y(2)	2						ACTGCTCTGCGCCTGACACGG	0.463													A	112184870	G	A	112184870	2	1	158	1	0	0	0	0	0	0	0	1	108	1074	38	1		1	ACAD10	12	112184870	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	65406	112184870	21667025	1865	85646											
DTX1	1840	broad.mit.edu	37	chr12	113515249	113515249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatgcggcccgtgcggCgcaacttctacgacccgtcg	12	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:113515249C>T	uc001tuk.1	+	2	616	c.280C>T	c.(280-282)CGC>TGC	p.R94C		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	94	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			lung(2)|ovary(1)|central_nervous_system(1)	4						GCCCGTGCGGCGCAACTTCTA	0.672													T	113515249	C	T	113515249	3	4	158	1	0	0	0	0	1	0	0	0	4793	768	27	1	286	1	DTX1	12	113515249	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1330379	113515249	20336646	1866	85647											
DTX1	1840	broad.mit.edu	37	chr12	113515369	113515369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccatccagaacgcctacGagaagcagcacccgtggctc	9	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:113515369G>A	uc001tuk.1	+	2	736	c.400G>A	c.(400-402)GAG>AAG	p.E134K		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	134	WWE 2.				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			lung(2)|ovary(1)|central_nervous_system(1)	4						GAACGCCTACGAGAAGCAGCA	0.562													A	113515369	G	A	113515369	3	1	158	1	0	0	0	0	1	0	0	0	4793	1059	37	1	406	1	DTX1	12	113515369	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	120	113515369	20336526	1867	85648											
KSR2	283455	broad.mit.edu	37	chr12	117962864	117962864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagcggccctttccaatgAgctcgccgatctccagctgc	9	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:117962864A>G	uc001two.2	-	14	1980	c.1925T>C	c.(1924-1926)CTC>CCC	p.L642P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	671	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTCCAATGAGCTCGCCGAT	0.622													G	117962864	A	G	117962864	3	3	158	1	0	0	0	0	1	0	0	0	8582	304	11	3	868	3	KSR2	12	117962864	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	4447495	117962864	15889031	1868	85649											
KSR2	283455	broad.mit.edu	37	chr12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-													cggcgtggcactaggagggaGggggggtgctggcgaggagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:117977604_117977604AG>A	uc001two.2	-	9	1575	c.1520_1520CT>T	c.(1519-1521)ctcfs	p.L507fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	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)					ACTAGGAGGGAGGGGGGGTGC	0.637													-	117977605	G	-	117977605	7	5	158	1	0	1	0	1	0	0	0	0	8582	1000	35	0	1290	0	KSR2	12	117977605	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	14741	117977605	15874290	1869	85650											
SRRM4	84530	broad.mit.edu	37	chr12	119588945	119588945	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctatgccagcacccgatcCtccagtcactcgtcccgatc	6	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:119588945C>A	uc001txa.1	+	10	1492	c.1200C>A	c.(1198-1200)TCC>TCA	p.S400S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	400	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						GCACCCGATCCTCCAGTCACT	0.562													A	119588945	C	A	119588945	2	1	158	1	0	0	0	0	0	0	0	1	15170	668	24	5		5	SRRM4	12	119588945	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1611340	119588945	14262950	1870	85651											
SRRM4	84530	broad.mit.edu	37	chr12	119594401	119594401	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagtagccgctcggCcagccgcagctactcccgga	12	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:119594401C>G	uc001txa.1	+	13	1926	c.1634C>G	c.(1633-1635)GCC>GGC	p.A545G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	545	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						AGCCGCTCGGCCAGCCGCAGC	0.552													G	119594401	C	G	119594401	3	3	158	1	0	0	0	0	1	0	0	0	15170	739	26	5	1684	5	SRRM4	12	119594401	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5456	119594401	14257494	1871	85652											
CIT	11113	broad.mit.edu	37	chr12	120241186	120241186	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggtgggaacgaagggGggaggagctggttaaagaaa	20	2	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:120241186G>T	uc001txi.1	-	10	1172	c.1119C>A	c.(1117-1119)CCC>CCA	p.P373P	CIT_uc001txh.1_5'UTR|CIT_uc001txj.1_Silent_p.P373P	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	373	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAACGAAGGGGGGAGGAGCTG	0.502													T	120241186	G	T	120241186	2	4	158	1	0	0	0	0	0	0	0	1	3438	1219	43	5		5	CIT	12	120241186	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	646785	120241186	13610709	1872	85653											
GCN1L1	10985	broad.mit.edu	37	chr12	120568996	120568996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatgccttaccctgtccGccgtggcactgctcaggatc	10	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:120568996G>A	uc001txo.2	-	55	7569	c.7556C>T	c.(7555-7557)GCG>GTG	p.A2519V		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2519					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCCTGTCCGCCGTGGCACT	0.522													A	120568996	G	A	120568996	3	1	158	1	0	0	0	0	1	0	0	0	6299	1087	38	1	475	1	GCN1L1	12	120568996	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	327810	120568996	13282899	1873	85654											
GCN1L1	10985	broad.mit.edu	37	chr12	120582845	120582845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccatggccccaagggcCtttgcagatacggtccgcac	10	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:120582845C>A	uc001txo.2	-	40	5050	c.5037G>T	c.(5035-5037)AAG>AAT	p.K1679N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1679	HEAT 12.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCCAAGGGCCTTTGCAGATA	0.572													A	120582845	C	A	120582845	3	1	158	1	0	0	0	0	1	0	0	0	6299	680	24	5	3054	5	GCN1L1	12	120582845	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	13849	120582845	13269050	1874	85655											
KDM2B	84678	broad.mit.edu	37	chr12	121890960	121890960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcagctctgcttcatgCgcccggggcccccgaacttc	11	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:121890960C>T	uc001uat.2	-	13	2026	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	KDM2B_uc001uaq.2_Missense_Mutation_p.R81H|KDM2B_uc010szy.1_Missense_Mutation_p.R81H|KDM2B_uc001uar.2_Missense_Mutation_p.R232H|KDM2B_uc001uas.2_Missense_Mutation_p.R610H|KDM2B_uc001uau.2_Missense_Mutation_p.R524H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	641	CXXC-type.				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			ovary(1)|skin(1)	2						CTGCTTCATGCGCCCGGGGCC	0.706													T	121890960	C	T	121890960	3	4	158	1	0	0	0	0	1	0	0	0	8125	768	27	1	2184	1	KDM2B	12	121890960	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1308115	121890960	11960935	1875	85656											
TMEM120B	144404	broad.mit.edu	37	chr12	122181540	122181540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgttcttcaggagacGcacaggatctacaagcagaa	9	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:122181540G>A	uc001ubc.3	+	2	219	c.75G>A	c.(73-75)ACG>ACA	p.T25T	TMEM120B_uc009zxh.2_Silent_p.T25T	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	25	Potential.					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TTCAGGAGACGCACAGGATCT	0.438													A	122181540	G	A	122181540	2	1	158	1	0	0	0	0	0	0	0	1	16031	1074	38	1		1	TMEM120B	12	122181540	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	290580	122181540	11670355	1876	85657											
B3GNT4	79369	broad.mit.edu	37	chr12	122691036	122691037	+	Frame_Shift_Del	DEL	CA	CA	-													acagccggtgtccacccaacCacacagtgtctagcgcctct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:122691035_122691036CCA>C	uc001ubx.3	+	2	455_456	c.237_238CCA>C	c.(235-240)aaccacfs	p.N79fs	B3GNT4_uc001uby.3_Frame_Shift_Del_p.N54fs	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	79					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)		GTCCACCCAACCACACAGTGTC	0.614													-	122691037	CA	-	122691036	7	5	158	1	0	1	0	1	0	0	0	0	1259	594	21	0	244	0	B3GNT4	12	122691036	Frame_Shift_Del	DEL	CA	TCGA-CD-A4MG-01A-11D-A25D-08	509496	122691036	11160859	1877	85658											
KNTC1	9735	broad.mit.edu	37	chr12	123067402	123067402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatagctgctgaggtgaggAgcccaagcatggaatcaaag	13	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:123067402A>G	uc001ucv.2	+	34	3296	c.3133A>G	c.(3133-3135)AGC>GGC	p.S1045G	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1045					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		TGAGGTGAGGAGCCCAAGCAT	0.547													G	123067402	A	G	123067402	3	3	158	1	0	0	0	0	1	0	0	0	8428	304	11	3	3263	3	KNTC1	12	123067402	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	376366	123067402	10784493	1878	85659											
SBNO1	55206	broad.mit.edu	37	chr12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T													tcccatatcatatcttccatINStttttttggcattttgaaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		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)		CATATCTTCCATTTTTTTTGGC	0.386													T	123794284	-	T	123794283	7	5	158	1	0	1	1	0	0	0	0	0	13862	1493	52	0	793	0	SBNO1	12	123794283	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	726881	123794283	10057612	1879	85660											
RILPL1	353116	broad.mit.edu	37	chr12	123970350	123970350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctctcccaccggctcCgtctggaggaggcagagatg	12	15	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:123970350C>T	uc001ufe.2	-	5	1040	c.804G>A	c.(802-804)ACG>ACA	p.T268T	RILPL1_uc001ufd.2_Silent_p.T117T|RILPL1_uc010tas.1_Silent_p.T268T	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	268					neuroprotection	cytosol					0	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)		CCACCGGCTCCGTCTGGAGGA	0.627													T	123970350	C	T	123970350	2	4	158	1	0	0	0	0	0	0	0	1	13361	639	23	1		1	RILPL1	12	123970350	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	176067	123970350	9881545	1880	85661											
CCDC92	80212	broad.mit.edu	37	chr12	124421644	124421644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtgcttcctcaccacCttgcctccgttcacctggtc	7	18	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124421644C>A	uc001ufw.1	-	5	1104	c.957G>T	c.(955-957)AAG>AAT	p.K319N	CCDC92_uc001ufv.1_Missense_Mutation_p.K302N|CCDC92_uc001ufx.1_Missense_Mutation_p.K319N|CCDC92_uc001ufy.1_Missense_Mutation_p.K302N	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	319											0	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)		TCCTCACCACCTTGCCTCCGT	0.672													A	124421644	C	A	124421644	3	1	158	1	0	0	0	0	1	0	0	0	2871	680	24	5	42	5	CCDC92	12	124421644	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	451294	124421644	9430251	1881	85662											
NCOR2	9612	broad.mit.edu	37	chr12	124824929	124824929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtcccgctctcgatccCggtctcgctcccgctcggac	10	21	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124824929C>T	uc010tba.1	-	36	5540	c.5423G>A	c.(5422-5424)CGG>CAG	p.R1808Q	NCOR2_uc010tay.1_Missense_Mutation_p.R1807Q|NCOR2_uc010taz.1_Missense_Mutation_p.R1791Q|NCOR2_uc010tbb.1_Missense_Mutation_p.R1800Q|NCOR2_uc010tbc.1_Missense_Mutation_p.R1790Q|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1808					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			skin(3)|ovary(1)	4	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)		CTCTCGATCCCGGTCTCGCTC	0.627													T	124824929	C	T	124824929	3	4	158	1	0	0	0	0	1	0	0	0	10236	652	23	1	2193	1	NCOR2	12	124824929	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	403285	124824929	9026966	1882	85663											
NCOR2	9612	broad.mit.edu	37	chr12	124826546	124826546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgtcggggtagccgcGgatgaggtagggtgggtaca	20	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124826546G>A	uc010tba.1	-	34	5152	c.5035C>T	c.(5035-5037)CGC>TGC	p.R1679C	NCOR2_uc010tay.1_Missense_Mutation_p.R1678C|NCOR2_uc010taz.1_Missense_Mutation_p.R1662C|NCOR2_uc010tbb.1_Missense_Mutation_p.R1671C|NCOR2_uc010tbc.1_Missense_Mutation_p.R1661C|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1679					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			skin(3)|ovary(1)	4	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)		GGGTAGCCGCGGATGAGGTAG	0.667													A	124826546	G	A	124826546	3	1	158	1	0	0	0	0	1	0	0	0	10236	1116	39	1	2589	1	NCOR2	12	124826546	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1617	124826546	9025349	1883	85664											
NCOR2	9612	broad.mit.edu	37	chr12	124841289	124841289	+	Frame_Shift_Del	DEL	G	G	-													gcaggccggaagtccagcaaGgggggtccccaggcagcttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124841289delG	uc010tba.1	-	23	3281	c.3164delC	c.(3163-3165)CCTfs	p.P1055fs	NCOR2_uc010tay.1_Frame_Shift_Del_p.P1054fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.P1038fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.P1047fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.P1037fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.P1055fs	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1055					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			skin(3)|ovary(1)	4	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)		AGTCCAGCAAGGGGGGTCCCC	0.687													-	124841289	G	-	124841289	7	5	158	1	0	1	0	1	0	0	0	0	10236	1000	35	0	4504	0	NCOR2	12	124841289	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	14743	124841289	9010606	1884	85665											
DHX37	57647	broad.mit.edu	37	chr12	125460030	125460030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcggccactcggcggggCtccgtgacaccgatgatgct	15	14	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:125460030C>T	uc001ugy.2	-	6	1014	c.915G>A	c.(913-915)GAG>GAA	p.E305E		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	305	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	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)		CTCGGCGGGGCTCCGTGACAC	0.627													T	125460030	C	T	125460030	2	4	158	1	0	0	0	0	0	0	0	1	4510	796	28	2		2	DHX37	12	125460030	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	618741	125460030	8391865	1885	85666											
TMEM132B	114795	broad.mit.edu	37	chr12	125900199	125900199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccctcacctgcatggGccatcgcccggacacgcaga	11	18	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:125900199G>A	uc001uhe.1	+	3	1075	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	356	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	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)		ACCTGCATGGGCCATCGCCCG	0.577													A	125900199	G	A	125900199	3	1	158	1	0	0	0	0	1	0	0	0	16043	1203	42	2	1077	2	TMEM132B	12	125900199	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	440169	125900199	7951696	1886	85667											
RIMBP2	23504	broad.mit.edu	37	chr12	130892273	130892273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtgtttggctggtacctCgacatcgacgttgggcgagc	15	10	0	0	rs148542555	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:130892273C>T	uc001uil.2	-	16	3087	c.2923G>A	c.(2923-2925)GAG>AAG	p.E975K		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	975	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		GCTGGTACCTCGACATCGACG	0.567													T	130892273	C	T	130892273	3	4	158	1	0	0	0	0	1	0	0	0	13363	893	31	1	251	1	RIMBP2	12	130892273	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4992074	130892273	2959622	1887	85668											
ULK1	8408	broad.mit.edu	37	chr12	132399917	132399917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaggctggagcgggacGccctccccacagggagctga	16	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:132399917G>A	uc001uje.2	+	18	1828	c.1560G>A	c.(1558-1560)ACG>ACA	p.T520T		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	520					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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		GGAGCGGGACGCCCTCCCCAC	0.672													A	132399917	G	A	132399917	2	1	158	1	0	0	0	0	0	0	0	1	16972	1074	38	1		1	ULK1	12	132399917	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1507644	132399917	1451978	1888	85669											
NOC4L	79050	broad.mit.edu	37	chr12	132635801	132635801	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccttccccccggcccgcAgggagtaccctgacttctac	9	19	1	1	rs112537581		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:132635801A>G	uc001ujz.1	+	11	1004	c.963_splice	c.e11-2	p.L321_splice		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog						rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCCGGCCCGCAGGGAGTACCC	0.662													G	132635801	A	G	132635801	5	3	158	1	0	0	0	0	0	0	1	0	10515	202	7	3	1003	3	NOC4L	12	132635801	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	235884	132635801	1216094	1889	85670											
POLE	5426	broad.mit.edu	37	chr12	133210851	133210851	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttccagttgttttccagTaaatcctccacgttggattc	7	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:133210851T>C	uc001uks.1	-	43	5969	c.5925A>G	c.(5923-5925)TTA>TTG	p.L1975L	POLE_uc001ukq.1_Silent_p.L185L|POLE_uc001ukr.1_Silent_p.L779L|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1975					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		TGTTTTCCAGTAAATCCTCCA	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	133210851	T	C	133210851	2	2	158	1	0	0	0	0	0	0	0	1	12196	1635	57	3		3	POLE	12	133210851	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	575050	133210851	641044	1890	85671											
POLE	5426	broad.mit.edu	37	chr12	133214684	133214684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcggttgaagttggcgTagatgactgatgaccccagg	15	7	0	6			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:133214684T>C	uc001uks.1	-	41	5638	c.5594A>G	c.(5593-5595)TAC>TGC	p.Y1865C	POLE_uc001ukq.1_Missense_Mutation_p.Y75C|POLE_uc001ukr.1_Missense_Mutation_p.Y669C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1865					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		GAAGTTGGCGTAGATGACTGA	0.577								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	133214684	T	C	133214684	3	2	158	1	0	0	0	0	1	0	0	0	12196	1638	57	3	1302	3	POLE	12	133214684	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3833	133214684	637211	1891	85672											
PSPC1	55269	broad.mit.edu	37	chr13	20304380	20304380	+	Splice_Site	DEL	T	T	-													taactagtagtttacttacaTtttccatgtagtttggctta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:20304379_20304379AT>A	uc021rgx.1	-	7	1295	c.1158_splice	c.e7+1	p.N386_splice		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein 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)		GTTTACTTACATTTTCCATGT	0.373													-	20304380	T	-	20304380	8	5	158	1	0	1	0	1	0	0	1	0	12716	1507	52	0	430	0	PSPC1	13	20304380	Splice_Site	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08		20304380	94865498	1892	85673											
IL17D	53342	broad.mit.edu	37	chr13	21295977	21295977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctacgtcaccatccccGtgggctgcacctgcgtcccc	10	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:21295977G>A	uc001unm.2	+	3	601	c.493G>A	c.(493-495)GTG>ATG	p.V165M		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	interleukin 17D precursor	165					inflammatory response	extracellular space	cytokine activity				0		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)		CACCATCCCCGTGGGCTGCAC	0.701													A	21295977	G	A	21295977	3	1	158	1	0	0	0	0	1	0	0	0	7637	1145	40	1	499	1	IL17D	13	21295977	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	991597	21295977	93873901	1893	85674											
XPO4	64328	broad.mit.edu	37	chr13	21417087	21417087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattggcgagtgcaaggtaaCgctgaaatactgaagacatc	12	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:21417087C>T	uc001unq.3	-	6	710	c.674G>A	c.(673-675)CGT>CAT	p.R225H	XPO4_uc010tcr.1_Missense_Mutation_p.R151H	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	225					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		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)		TGCAAGGTAACGCTGAAATAC	0.403													T	21417087	C	T	21417087	3	4	158	1	0	0	0	0	1	0	0	0	17443	536	19	1	2853	1	XPO4	13	21417087	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	121110	21417087	93752791	1894	85675											
FGF9	2254	broad.mit.edu	37	chr13	22246178	22246178	+	Frame_Shift_Del	DEL	G	G	-													acctgggtcagtccgaagcaGgggggctccccaggggaccc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:22246177_22246177AG>A	uc001uog.2	+	0	963	c.126_126AG>A	c.(124-126)gcafs	p.A42fs		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	42					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		AGTCCGAAGCAGGGGGGCTCC	0.562													-	22246178	G	-	22246178	7	5	158	1	0	1	0	1	0	0	0	0	5859	1000	35	0	129	0	FGF9	13	22246178	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	829091	22246178	92923700	1895	85676											
SACS	26278	broad.mit.edu	37	chr13	23911721	23911721	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctccaaggaacaaggAatacatggagtaacacgaag	10	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:23911721A>C	uc001uon.2	-	10	6883	c.6294T>G	c.(6292-6294)ATT>ATG	p.I2098M	SACS_uc001uoo.2_Missense_Mutation_p.I1951M|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2098					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		AGGAACAAGGAATACATGGAG	0.393													C	23911721	A	C	23911721	3	2	158	1	0	0	0	0	1	0	0	0	13804	242	9	5	7449	5	SACS	13	23911721	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1665543	23911721	91258157	1896	85677											
TNFRSF19	55504	broad.mit.edu	37	chr13	24243247	24243247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccctccaggtaaggcagcGactgggttccctgtgaacac	12	13	0	1	rs145685720	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:24243247G>A	uc001uov.1	+	9	1320	c.1256G>A	c.(1255-1257)CGA>CAA	p.R419Q	TNFRSF19_uc001uot.2_Intron|TNFRSF19_uc010tcu.1_Intron|TNFRSF19_uc001uow.2_Intron	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	419	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTAAGGCAGCGACTGGGTTCC	0.493													A	24243247	G	A	24243247	3	1	158	1	0	0	0	0	1	0	0	0	16289	1058	37	1	1286	1	TNFRSF19	13	24243247	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	331526	24243247	90926631	1897	85678											
CENPJ	55835	broad.mit.edu	37	chr13	25484017	25484017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaataaattaggagacGcacgttttgaagttaagaca	9	5	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:25484017G>A	uc001upt.3	-	4	1029	c.776C>T	c.(775-777)GCG>GTG	p.A259V	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	259					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			ovary(2)	2		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)		ATTAGGAGACGCACGTTTTGA	0.393													A	25484017	G	A	25484017	3	1	158	1	0	0	0	0	1	0	0	0	3234	1087	38	1	3296	1	CENPJ	13	25484017	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1240770	25484017	89685861	1898	85679											
FAM123A	219287	broad.mit.edu	37	chr13	25745387	25745387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgctgtcgcccccgccgCgcggctcctccttcctgccg	11	23	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:25745387C>T	uc001uqb.2	-	1	471	c.371G>A	c.(370-372)CGC>CAC	p.R124H	FAM123A_uc001uqa.2_Missense_Mutation_p.R124H|FAM123A_uc001uqc.2_Missense_Mutation_p.R124H	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	124	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		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)		gcccccgccgcGCGGCTCCTC	0.597													T	25745387	C	T	25745387	3	4	158	1	0	0	0	0	1	0	0	0	5422	768	27	1	1648	1	FAM123A	13	25745387	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	261370	25745387	89424491	1899	85680											
RNF6	6049	broad.mit.edu	37	chr13	26788943	26788943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtatatgcagtacctctgCgttctcgttctctatcttgc	9	11	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:26788943C>T	uc001uqo.2	-	5	1367	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.R359H|RNF6_uc001uqp.2_Missense_Mutation_p.R359H|RNF6_uc001uqq.2_Missense_Mutation_p.R359H|RNF6_uc010tdk.1_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	359	Arg-rich.				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			ovary(1)|skin(1)	2	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)		AGTACCTCTGCGTTCTCGTTC	0.438													T	26788943	C	T	26788943	3	4	158	1	0	0	0	0	1	0	0	0	13498	768	27	1	985	1	RNF6	13	26788943	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1043556	26788943	88380935	1900	85681											
WASF3	10810	broad.mit.edu	37	chr13	27255387	27255388	+	Frame_Shift_Ins	INS	-	-	C													caacagacctcagcagccgcINScccccccgcctccccctcag					rs141429361		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:27255386_27255387G>GC	uc001uqv.3	+	7	1137_1138	c.912_913G>GC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678													C	27255388	-	C	27255387	7	5	158	1	0	1	1	0	0	0	0	0	17251	739	26	0	935	0	WASF3	13	27255387	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	466444	27255387	87914491	1901	85682											
USP12	219333	broad.mit.edu	37	chr13	27664270	27664270	+	Frame_Shift_Del	DEL	A	A	-													ccacgtcaacagaaaggtctAaaaaatcttcatctttgctg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:27664269_27664269TA>T	uc001uqy.3	-	4	857	c.600_600TA>A	c.(598-600)ttafs	p.L200fs		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	200					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)		CAGAAAGGTCTAAAAAATCTT	0.274													-	27664270	A	-	27664270	7	5	158	1	0	1	0	1	0	0	0	0	17040	372	13	0	533	0	USP12	13	27664270	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	408883	27664270	87505608	1902	85683											
USP12	219333	broad.mit.edu	37	chr13	27679880	27679880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattaccattttctttccGtaatcttgtgatgaacttct	5	8	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:27679880G>A	uc001uqy.2	-	3	584	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	111					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		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)		TTTTCTTTCCGTAATCTTGTG	0.343													A	27679880	G	A	27679880	3	1	158	1	0	0	0	0	1	0	0	0	17040	1144	40	1	809	1	USP12	13	27679880	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	15610	27679880	87489998	1903	85684											
MTUS2	23281	broad.mit.edu	37	chr13	29600552	29600552	+	Frame_Shift_Del	DEL	C	C	-													ggtcccccttggtagttccaCcccctactgatagtgcacgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:29600551_29600551AC>A	uc001usl.4	+	0	1804	c.1746_1746AC>A	c.(1744-1746)ccafs	p.P582fs		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	572						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						TGGTAGTTCCACCCCCTACTG	0.532													-	29600552	C	-	29600552	7	5	158	1	0	1	0	1	0	0	0	0	9966	507	18	0	1749	0	MTUS2	13	29600552	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1920672	29600552	85569326	1904	85685											
B3GALTL	145173	broad.mit.edu	37	chr13	31803392	31803393	+	Frame_Shift_Ins	INS	-	-	A													caaagagagcagagcagttaINSaaaaaaagcatcttaaagca					rs141154947		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:31803391_31803392T>TA	uc010aaz.3	+	3	340_341	c.230_231T>TA	c.(229-231)ttafs	p.L77fs		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	77					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)		GCAGAGCAGTTAAAAAAAAGCA	0.371													A	31803393	-	A	31803392	7	5	158	1	0	1	1	0	0	0	0	0	1252	359	13	0	245	0	B3GALTL	13	31803392	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	2202840	31803392	83366486	1905	85686											
RXFP2	122042	broad.mit.edu	37	chr13	32355837	32355837	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaatagaataaagtatcTcacaaattctacgtttctgt	6	7	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:32355837T>G	uc001utt.2	+	10	886	c.815T>G	c.(814-816)CTC>CGC	p.L272R	RXFP2_uc010aba.2_Missense_Mutation_p.L255R	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	272	Extracellular (Potential).|LRR 6.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATAAAGTATCTCACAAATTCT	0.333													G	32355837	T	G	32355837	3	3	158	1	0	0	0	0	1	0	0	0	13760	1551	54	5	853	5	RXFP2	13	32355837	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	552445	32355837	82814041	1906	85687											
BRCA2	675	broad.mit.edu	37	chr13	32906995	32906995	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagagaagccattaaaTgaggaaacagtggtaaataa	9	4	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:32906995T>C	uc001uub.1	+	10	1607	c.1380T>C	c.(1378-1380)AAT>AAC	p.N460N	BRCA2_uc001uua.1_Silent_p.N337N	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	460					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		AGCCATTAAATGAGGAAACAG	0.378			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32906995	T	C	32906995	2	2	158	1	0	0	0	0	0	0	0	1	1499	1461	51	3		3	BRCA2	13	32906995	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	551158	32906995	82262883	1907	85688											
BRCA2	675	broad.mit.edu	37	chr13	32911322	32911322	+	Frame_Shift_Del	DEL	A	A	-													aagcaacccaagtgtcaattAaaaaagatttggtttatgtt					rs80359356		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:32911321_32911321TA>T	uc001uub.1	+	10	3056	c.2829_2829TA>T	c.(2827-2829)attfs	p.I943fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	943	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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|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)		AAGTGTCAATTAAAAAAGATT	0.348			"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)			-	32911322	A	-	32911322	7	5	158	1	0	1	0	1	0	0	0	0	1499	363	13	0	2868	0	BRCA2	13	32911322	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	4327	32911322	82258556	1908	85689											
PDS5B	23047	broad.mit.edu	37	chr13	33306344	33306344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctagtaaagagacccagTttgcacagatatttgaggta	9	6	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:33306344T>C	uc010abf.2	+	20	2388	c.2230T>C	c.(2230-2232)TTT>CTT	p.F744L	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	744					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		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)		AGAGACCCAGTTTGCACAGAT	0.323													C	33306344	T	C	33306344	3	2	158	1	0	0	0	0	1	0	0	0	11692	1725	60	3	2304	3	PDS5B	13	33306344	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	395022	33306344	81863534	1909	85690											
STARD13	90627	broad.mit.edu	37	chr13	33704265	33704265	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgtgaggacgctctcActgctggtcgtgttcctcat	12	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:33704265A>G	uc001uuw.2	-	5	675	c.549T>C	c.(547-549)AGT>AGC	p.S183S	STARD13_uc001uuu.2_Silent_p.S175S|STARD13_uc001uuv.2_Silent_p.S65S|STARD13_uc001uux.2_Silent_p.S148S|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.S168S	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	183					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	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)		GGACGCTCTCACTGCTGGTCG	0.627													G	33704265	A	G	33704265	2	3	158	1	0	0	0	0	0	0	0	1	15255	156	6	3		3	STARD13	13	33704265	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	397921	33704265	81465613	1910	85691											
NBEA	26960	broad.mit.edu	37	chr13	35756615	35756615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagactacaagaactggaaGccaaccaggtagaaacatca	9	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:35756615G>T	uc001uvb.2	+	29	4987	c.4781G>T	c.(4780-4782)AGC>ATC	p.S1594I	NBEA_uc010abi.2_Missense_Mutation_p.S282I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1594						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AGAACTGGAAGCCAACCAGGT	0.378													T	35756615	G	T	35756615	3	4	158	1	0	0	0	0	1	0	0	0	10187	971	34	5	4895	5	NBEA	13	35756615	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2052350	35756615	79413263	1911	85692											
NBEA	26960	broad.mit.edu	37	chr13	35782966	35782966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgctactggagctacAccaaaaagtatgattaatac	7	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:35782966A>G	uc001uvb.2	+	32	5702	c.5496A>G	c.(5494-5496)ACA>ACG	p.T1832T	NBEA_uc010abi.2_Silent_p.T488T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1832						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CTGGAGCTACACCAAAAAGTA	0.378													G	35782966	A	G	35782966	2	3	158	1	0	0	0	0	0	0	0	1	10187	146	6	3		3	NBEA	13	35782966	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	26351	35782966	79386912	1912	85693											
MAB21L1	4081	broad.mit.edu	37	chr13	36049681	36049681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccttgacctccgccacccGgttgggtcccggccagggga	14	17	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36049681G>A	uc001uvc.2	-	1	1152	c.595C>T	c.(595-597)CGG>TGG	p.R199W	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	199					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		TCCGCCACCCGGTTGGGTCCC	0.647													A	36049681	G	A	36049681	3	1	158	1	0	0	0	0	1	0	0	0	9141	1115	39	1	488	1	MAB21L1	13	36049681	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	266715	36049681	79120197	1913	85694											
MAB21L1	4081	broad.mit.edu	37	chr13	36050268	36050268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccagcttggcctgggccGcaatcatgttggggcagaga	15	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36050268G>A	uc001uvc.2	-	1	565	c.8C>T	c.(7-9)GCG>GTG	p.A3V	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	3					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		GGCCTGGGCCGCAATCATGTT	0.522													A	36050268	G	A	36050268	3	1	158	1	0	0	0	0	1	0	0	0	9141	1087	38	1	1075	1	MAB21L1	13	36050268	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	587	36050268	79119610	1914	85695											
DCLK1	9201	broad.mit.edu	37	chr13	36700138	36700138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagctgagcgtctgcagcGtgcgggtgcggtagaagctg	19	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36700138G>A	uc001uvf.2	-	2	370	c.137C>T	c.(136-138)ACG>ATG	p.T46M		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	46			T -> M (in a gastric adenocarcinoma sample; somatic mutation).		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	p.T46M(1)		stomach(6)|ovary(2)|skin(1)	9		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)		CGTCTGCAGCGTGCGGGTGCG	0.597													A	36700138	G	A	36700138	3	1	158	1	0	0	0	0	1	0	0	0	4291	1145	40	1	2120	1	DCLK1	13	36700138	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	649870	36700138	78469740	1915	85696											
SOHLH2	54937	broad.mit.edu	37	chr13	36776224	36776224	+	Frame_Shift_Del	DEL	T	T	-													tccaactaataagatgtctaTttttgcctgaaagagaagga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36776224delT	uc001uvj.2	-	2	144	c.55delA	c.(55-57)ATAfs	p.I19fs	SOHLH2_uc010tei.1_Frame_Shift_Del_p.I96fs	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	19					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		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)		AAGATGTCTATTTTTGCCTGA	0.398													-	36776224	T	-	36776224	7	5	158	1	0	1	0	1	0	0	0	0	14924	1493	52	0	1262	0	SOHLH2	13	36776224	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	76086	36776224	78393654	1916	85697											
FAM48A	55578	broad.mit.edu	37	chr13	37605751	37605751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagggactccgtttccacaTatctacacactgaaaaatta	5	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:37605751T>C	uc001uwg.2	-	12	1122	c.874A>G	c.(874-876)ATG>GTG	p.M292V	FAM48A_uc010abt.2_Missense_Mutation_p.M293V|FAM48A_uc001uwh.2_Missense_Mutation_p.M293V|FAM48A_uc001uwi.2_Missense_Mutation_p.M292V|FAM48A_uc001uwj.2_Missense_Mutation_p.M293V|FAM48A_uc001uwk.2_Missense_Mutation_p.M292V|FAM48A_uc010tes.1_Missense_Mutation_p.M280V|FAM48A_uc001uwl.1_Missense_Mutation_p.M292V	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	292					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CGTTTCCACATATCTACACAC	0.289													C	37605751	T	C	37605751	3	2	158	1	0	0	0	0	1	0	0	0	5572	1406	49	3	1525	3	FAM48A	13	37605751	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	829527	37605751	77564127	1917	85698											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679211	37679211	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaatcgtgtagagtttGctctcatacagcaactgggg	12	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:37679211G>T	uc001uwm.1	-	1	591	c.183C>A	c.(181-183)AGC>AGA	p.S61R		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	61	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		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)		TGTAGAGTTTGCTCTCATACA	0.517													T	37679211	G	T	37679211	3	4	158	1	0	0	0	0	1	0	0	0	3951	1310	46	5	834	5	CSNK1A1L	13	37679211	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	73460	37679211	77490667	1918	85699											
FREM2	341640	broad.mit.edu	37	chr13	39262270	39262270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctttccaggaactaggCgtgcgctatcgccacacagc	10	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:39262270C>T	uc001uwv.2	+	1	1098	c.789C>T	c.(787-789)GGC>GGT	p.G263G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	263	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		AGGAACTAGGCGTGCGCTATC	0.632													T	39262270	C	T	39262270	2	4	158	1	0	0	0	0	0	0	0	1	6045	755	27	1		1	FREM2	13	39262270	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1583059	39262270	75907608	1919	85700											
COG6	57511	broad.mit.edu	37	chr13	40268775	40268775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacatattttaataggttcGaattgagcaagtaatagttg	8	4	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:40268775G>A	uc001uxh.2	+	12	1179	c.1079G>A	c.(1078-1080)CGA>CAA	p.R360Q	COG6_uc001uxi.2_Missense_Mutation_p.R308Q|COG6_uc010acb.2_Missense_Mutation_p.R360Q	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	360					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGGTTCGAATTGAGCAA	0.274													A	40268775	G	A	40268775	3	1	158	1	0	0	0	0	1	0	0	0	3662	1058	37	1	1125	1	COG6	13	40268775	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1006505	40268775	74901103	1920	85701											
KBTBD6	89890	broad.mit.edu	37	chr13	41704639	41704639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttcactgaggcgctacaCgcacccaaaaatcatcatca	5	14	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:41704639C>T	uc001uxu.1	-	1	2298	c.2009G>A	c.(2008-2010)CGT>CAT	p.R670H	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.R604H|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	670	Kelch 6.						protein binding			ovary(1)|skin(1)	2		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)		AGGCGCTACACGCACCCAAAA	0.408													T	41704639	C	T	41704639	3	4	158	1	0	0	0	0	1	0	0	0	7997	536	19	1	19	1	KBTBD6	13	41704639	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1435864	41704639	73465239	1921	85702											
DGKH	160851	broad.mit.edu	37	chr13	42830439	42830439	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcctttacagaaaactgCgtggtgggaatccaggccaa	11	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:42830439C>T	uc001uyp.2	+	32		c.4219C>T						Q86XP1	DGKH_HUMAN	Homo sapiens DGKH-1 mRNA for diacylglycerol kinase eta1, complete cds.						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			ovary(2)	2		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)		CAGAAAACTGCGTGGTGGGAA	0.433													T	42830439	C	T	42830439	1	4	158	0	1	0	0	0	0	0	0	0	4470	783	27	1		1	DGKH	13	42830439	RNA	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1125800	42830439	72339439	1922	85703											
EPSTI1	94240	broad.mit.edu	37	chr13	43537414	43537414	+	Frame_Shift_Del	DEL	T	T	-													ctctctctgaattgccttcaTtttttggagttcagcttctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:43537413_43537413AT>A	uc001uyw.1	-	4	543	c.467_467AT>T	c.(466-468)atgfs	p.M156fs	EPSTI1_uc001uyx.1_Frame_Shift_Del_p.M156fs	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	156										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)		AATTGCCTTCATTTTTTGGAG	0.328													-	43537414	T	-	43537414	7	5	158	1	0	1	0	1	0	0	0	0	5198	1493	52	0	802	0	EPSTI1	13	43537414	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	706975	43537414	71632464	1923	85704											
ZC3H13	23091	broad.mit.edu	37	chr13	46541687	46541687	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgtttcttcaaatccctGcacagatcccagatctttat	4	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46541687G>A	uc010tfw.1	-	14	4279	c.4273C>T	c.(4273-4275)CAG>TAG	p.Q1425*	ZC3H13_uc001vaq.2_Nonsense_Mutation_p.Q9*|ZC3H13_uc001vas.1_Nonsense_Mutation_p.Q1425*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1425							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TCAAATCCCTGCACAGATCCC	0.418													A	46541687	G	A	46541687	4	1	158	1	0	0	0	0	0	1	0	0	17562	1328	46	2	433	2	ZC3H13	13	46541687	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3004273	46541687	68628191	1924	85705											
ZC3H13	23091	broad.mit.edu	37	chr13	46541741	46541741	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaaggctagagagtctcGggaagtgctttctagatccc	11	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46541741G>A	uc010tfw.1	-	14	4225	c.4219C>T	c.(4219-4221)CGA>TGA	p.R1407*	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Nonsense_Mutation_p.R1407*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1407							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		AGAGAGTCTCGGGAAGTGCTT	0.393													A	46541741	G	A	46541741	4	1	158	1	0	0	0	0	0	1	0	0	17562	1124	39	1	487	1	ZC3H13	13	46541741	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	54	46541741	68628137	1925	85706											
ZC3H13	23091	broad.mit.edu	37	chr13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-													tcacctttggattttttacgTtttttttcaatgcttttctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46543660_46543660GT>G	uc010tfw.1	-	12	3025	c.3019_3019AC>C	c.(3019-3021)cgtfs	p.R1007fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.R1007fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.R1007fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1007	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		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)		GATTTTTTACGTTTTTTTTCA	0.373													-	46543661	T	-	46543661	7	5	158	1	0	1	0	1	0	0	0	0	17562	1722	60	0	1692	0	ZC3H13	13	46543661	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1920	46543661	68626217	1926	85707											
ZC3H13	23091	broad.mit.edu	37	chr13	46543882	46543882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctataatgtcctgtgcacGcattcttgagctttccagga	8	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46543882G>A	uc010tfw.1	-	13	2803	c.2797C>T	c.(2797-2799)CGT>TGT	p.R933C	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R933C|ZC3H13_uc001vat.1_Missense_Mutation_p.R933C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	933							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TCCTGTGCACGCATTCTTGAG	0.418													A	46543882	G	A	46543882	3	1	158	1	0	0	0	0	1	0	0	0	17562	1087	38	1	1913	1	ZC3H13	13	46543882	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	221	46543882	68625996	1927	85708											
ZC3H13	23091	broad.mit.edu	37	chr13	46544544	46544544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtccggagaatgttcaCgccggcgcttcggggactgt	14	12	1	1	rs144621814		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46544544C>T	uc010tfw.1	-	12	2531	c.2525G>A	c.(2524-2526)CGT>CAT	p.R842H	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	842	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		AGAATGTTCACGCCGGCGCTT	0.438													T	46544544	C	T	46544544	3	4	158	1	0	0	0	0	1	0	0	0	17562	536	19	1	2189	1	ZC3H13	13	46544544	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	662	46544544	68625334	1928	85709											
ZC3H13	23091	broad.mit.edu	37	chr13	46549584	46549584	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgttcccgttctcgctctcGctctctctcccgttctcgct	6	19	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46549584G>C	uc010tfw.1	-	11	2308	c.2302C>G	c.(2302-2304)CGA>GGA	p.R768G	ZC3H13_uc001vas.1_Missense_Mutation_p.R768G|ZC3H13_uc001vat.1_Missense_Mutation_p.R768G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	768	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		tctcgctctcgctctctctcc	0.149													C	46549584	G	C	46549584	3	2	158	1	0	0	0	0	1	0	0	0	17562	1095	38	5	2416	5	ZC3H13	13	46549584	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5040	46549584	68620294	1929	85710											
ZC3H13	23091	broad.mit.edu	37	chr13	46585643	46585643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacgcttcatttccaaTgacaattcatgaacataatc	4	10	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46585643T>C	uc010tfw.1	-	5	501	c.495A>G	c.(493-495)TCA>TCG	p.S165S	ZC3H13_uc001vas.1_Silent_p.S165S|ZC3H13_uc001vat.1_Silent_p.S165S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	165							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TCATTTCCAATGACAATTCAT	0.303													C	46585643	T	C	46585643	2	2	158	1	0	0	0	0	0	0	0	1	17562	1451	51	3		3	ZC3H13	13	46585643	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	36059	46585643	68584235	1930	85711											
RB1	5925	broad.mit.edu	37	chr13	48954327	48954327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatgacaacatttttcAtatgtctttattggcgtgcg	8	7	3	2	rs5803433		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:48954327A>G	uc001vcb.2	+	16	1614	c.1448A>G	c.(1447-1449)CAT>CGT	p.H483R		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	483	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.?(7)|p.H483fs*9(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		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)	AACATTTTTCATATGTCTTTA	0.204		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)			G	48954327	A	G	48954327	3	3	158	1	0	0	0	0	1	0	0	0	13098	217	8	3	1510	3	RB1	13	48954327	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2368684	48954327	66215551	1931	85712											
FNDC3A	22862	broad.mit.edu	37	chr13	49762768	49762768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgatggaggacagagtgCggtaatacttatatgtagat	13	4	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:49762768C>T	uc001vcm.2	+	17	2248	c.1943C>T	c.(1942-1944)GCG>GTG	p.A648V	FNDC3A_uc001vcn.2_Missense_Mutation_p.A648V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.A574V|FNDC3A_uc001vcq.2_Missense_Mutation_p.A592V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	648	Fibronectin type-III 4.					Golgi membrane|integral to membrane				lung(2)	2		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)		GGACAGAGTGCGGTAATACTT	0.403													T	49762768	C	T	49762768	3	4	158	1	0	0	0	0	1	0	0	0	5969	782	27	1	2016	1	FNDC3A	13	49762768	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	808441	49762768	65407110	1932	85713											
RCBTB1	55213	broad.mit.edu	37	chr13	50115896	50115896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgggtaagaaaactgatCgatttctatcacttccttca	6	10	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:50115896C>T	uc001vde.1	-	11	1501	c.1240G>A	c.(1240-1242)GAT>AAT	p.D414N		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	414	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GAAAACTGATCGATTTCTATC	0.428													T	50115896	C	T	50115896	3	4	158	1	0	0	0	0	1	0	0	0	13171	884	31	1	367	1	RCBTB1	13	50115896	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	353128	50115896	65053982	1933	85714											
TRIM13	10206	broad.mit.edu	37	chr13	50586282	50586282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctactggaattaatagccTgcaggttaattactccctga	8	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:50586282T>C	uc001vdq.1	+	3	519	c.206T>C	c.(205-207)CTG>CCG	p.L69P	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdp.1_Missense_Mutation_p.L72P|TRIM13_uc001vdr.1_Missense_Mutation_p.L69P|TRIM13_uc001vds.1_Missense_Mutation_p.L69P	NM_052811	NP_434698	O60858	TRI13_HUMAN	ret finger protein 2 isoform 1	69					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			ovary(2)	2		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)		ATTAATAGCCTGCAGGTTAAT	0.458													C	50586282	T	C	50586282	3	2	158	1	0	0	0	0	1	0	0	0	16485	1580	55	3	221	3	TRIM13	13	50586282	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	470386	50586282	64583596	1934	85715											
ATP7B	540	broad.mit.edu	37	chr13	52548156	52548156	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagggattataaagaacTgttgcagtcccttcggccaa	10	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52548156T>C	uc001vfw.2	-	2	1357	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	ATP7B_uc010adv.2_Silent_p.T400T|ATP7B_uc001vfx.2_Silent_p.T400T|ATP7B_uc001vfy.2_Silent_p.T289T|ATP7B_uc010tgt.1_Silent_p.T400T|ATP7B_uc010tgu.1_Silent_p.T400T|ATP7B_uc010tgv.1_Silent_p.T400T|ATP7B_uc010tgw.1_Silent_p.T368T	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	400	HMA 4.|Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		TATAAAGAACTGTTGCAGTCC	0.473									Wilson_disease				C	52548156	T	C	52548156	2	2	158	1	0	0	0	0	0	0	0	1	1191	1567	55	3		3	ATP7B	13	52548156	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1961874	52548156	62621722	1935	85716											
ATP7B	540	broad.mit.edu	37	chr13	52548764	52548764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtcatttacatggtcccTgaggtcttcgggctgaatga	11	9	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52548764T>C	uc001vfw.2	-	2	749	c.592A>G	c.(592-594)AGG>GGG	p.R198G	ATP7B_uc010adv.2_Missense_Mutation_p.R198G|ATP7B_uc001vfx.2_Missense_Mutation_p.R198G|ATP7B_uc001vfy.2_Missense_Mutation_p.R198G|ATP7B_uc010tgt.1_Missense_Mutation_p.R198G|ATP7B_uc010tgu.1_Missense_Mutation_p.R198G|ATP7B_uc010tgv.1_Missense_Mutation_p.R198G|ATP7B_uc010tgw.1_Missense_Mutation_p.R166G	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	198	HMA 2.|Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		ACATGGTCCCTGAGGTCTTCG	0.483									Wilson_disease				C	52548764	T	C	52548764	3	2	158	1	0	0	0	0	1	0	0	0	1191	1579	55	3	3885	3	ATP7B	13	52548764	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	608	52548764	62621114	1936	85717											
ATP7B	540	broad.mit.edu	37	chr13	52548993	52548993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttctgcaatgctggcctcGaagcccatgtccccaatttg	8	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52548993G>A	uc001vfw.2	-	2	520	c.363C>T	c.(361-363)TTC>TTT	p.F121F	ATP7B_uc010adv.2_Silent_p.F121F|ATP7B_uc001vfx.2_Silent_p.F121F|ATP7B_uc001vfy.2_Silent_p.F121F|ATP7B_uc010tgt.1_Silent_p.F121F|ATP7B_uc010tgu.1_Silent_p.F121F|ATP7B_uc010tgv.1_Silent_p.F121F|ATP7B_uc010tgw.1_Silent_p.F89F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	121	HMA 1.|Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		TGCTGGCCTCGAAGCCCATGT	0.582									Wilson_disease				A	52548993	G	A	52548993	2	1	158	1	0	0	0	0	0	0	0	1	1191	1049	37	1		1	ATP7B	13	52548993	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	229	52548993	62620885	1937	85718											
NEK5	341676	broad.mit.edu	37	chr13	52686485	52686485	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatattccattacaatAaacagcctgccattctctgt	3	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52686485A>G	uc001vge.2	-	5	371	c.231T>C	c.(229-231)TTT>TTC	p.F77F	NEK5_uc001vgf.2_Silent_p.F77F	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	77	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		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)		CCATTACAATAAACAGCCTGC	0.328													G	52686485	A	G	52686485	2	3	158	1	0	0	0	0	0	0	0	1	10327	359	13	3		3	NEK5	13	52686485	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	137492	52686485	62483393	1938	85719											
PCDH8	5100	broad.mit.edu	37	chr13	53420843	53420843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctagcttggatgcgaaCgtcgagttggcgcagcgtct	15	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:53420843C>T	uc001vhi.2	-	1	1932	c.1729G>A	c.(1729-1731)GTT>ATT	p.V577I	PCDH8_uc001vhj.2_Missense_Mutation_p.V577I	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	577	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		TGGATGCGAACGTCGAGTTGG	0.652													T	53420843	C	T	53420843	3	4	158	1	0	0	0	0	1	0	0	0	11517	536	19	1	1495	1	PCDH8	13	53420843	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	734358	53420843	61749035	1939	85720											
PCDH8	5100	broad.mit.edu	37	chr13	53420985	53420985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggtaggtgacctggccGttgcggcccaggtcccggtc	16	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:53420985G>A	uc001vhi.2	-	1	1790	c.1587C>T	c.(1585-1587)AAC>AAT	p.N529N	PCDH8_uc001vhj.2_Silent_p.N529N	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	529	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		TGACCTGGCCGTTGCGGCCCA	0.716													A	53420985	G	A	53420985	2	1	158	1	0	0	0	0	0	0	0	1	11517	1136	40	1		1	PCDH8	13	53420985	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	142	53420985	61748893	1940	85721											
OLFM4	10562	broad.mit.edu	37	chr13	53602983	53602983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacaagatgaggcccggCctctcatttctcctagccct	10	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:53602983C>T	uc001vhl.2	+	1	12	c.12C>T	c.(10-12)GGC>GGT	p.G4G	OLFM4_uc001vhk.1_Silent_p.G4G	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	4					cell adhesion	extracellular space				skin(1)	1		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)		TGAGGCCCGGCCTCTCATTTC	0.587													T	53602983	C	T	53602983	2	4	158	1	0	0	0	0	0	0	0	1	10855	726	26	2		2	OLFM4	13	53602983	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	181998	53602983	61566895	1941	85722											
PCDH17	27253	broad.mit.edu	37	chr13	58299028	58299028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaaacgtgccctgagccCtctcctccaagaggtcccct	8	18	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:58299028C>A	uc001vhq.1	+	4	3972	c.3080C>A	c.(3079-3081)CCT>CAT	p.P1027H	PCDH17_uc010aec.1_Missense_Mutation_p.P1026H|PCDH17_uc001vhr.1_Missense_Mutation_p.P116H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1027	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCCTGAGCCCTCTCCTCCAA	0.488													A	58299028	C	A	58299028	3	1	158	1	0	0	0	0	1	0	0	0	11512	681	24	5	3094	5	PCDH17	13	58299028	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4696045	58299028	56870850	1942	85723											
KLF12	11278	broad.mit.edu	37	chr13	74289591	74289591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacatctgtggatacgcCgttttctggagtctggggat	12	8	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:74289591C>T	uc001vjf.2	-	7	1163	c.941G>A	c.(940-942)CGG>CAG	p.R314Q	KLF12_uc010aeq.2_Missense_Mutation_p.R314Q	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	314					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GTGGATACGCCGTTTTCTGGA	0.468													T	74289591	C	T	74289591	3	4	158	1	0	0	0	0	1	0	0	0	8340	652	23	1	275	1	KLF12	13	74289591	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	15990563	74289591	40880287	1943	85724											
MYCBP2	23077	broad.mit.edu	37	chr13	77670608	77670608	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgtccaccagcatatcGgccacaaccttgaaacaata	5	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:77670608G>A	uc001vkf.2	-	58	9770	c.9679C>T	c.(9679-9681)CGA>TGA	p.R3227*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.R2631*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3227	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAGCATATCGGCCACAACCT	0.393													A	77670608	G	A	77670608	4	1	158	1	0	0	0	0	0	1	0	0	10018	1124	39	1	4351	1	MYCBP2	13	77670608	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3381017	77670608	37499270	1944	85725											
SCEL	8796	broad.mit.edu	37	chr13	78177256	78177256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaaatcccaaaggacaTgaaaataccactgggtaaaa	8	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:78177256T>C	uc001vki.2	+	18	1253	c.1083T>C	c.(1081-1083)CAT>CAC	p.H361H	SCEL_uc001vkj.2_Silent_p.H341H|SCEL_uc010thx.1_Silent_p.H339H	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	361	16 X approximate tandem repeats.|6.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.H361Y(1)		ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CCAAAGGACATGAAAATACCA	0.279													C	78177256	T	C	78177256	2	2	158	1	0	0	0	0	0	0	0	1	13888	1461	51	3		3	SCEL	13	78177256	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	506648	78177256	36992622	1945	85726											
EDNRB	1910	broad.mit.edu	37	chr13	78477378	78477378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgtaattatatcaaaaccTatggcttcagggacagccag	8	9	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:78477378T>C	uc001vko.2	-	3	972	c.714A>G	c.(712-714)ATA>ATG	p.I238M	EDNRB_uc001vkq.1_Missense_Mutation_p.I238M|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.I238M|EDNRB_uc001vkp.1_Missense_Mutation_p.I321M	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	238	Helical; Name=4; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TATCAAAACCTATGGCTTCAG	0.413													C	78477378	T	C	78477378	3	2	158	1	0	0	0	0	1	0	0	0	4920	1512	53	3	755	3	EDNRB	13	78477378	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	300122	78477378	36692500	1946	85727											
NDFIP2	54602	broad.mit.edu	37	chr13	80113872	80113872	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtgatgcagaccagctcaGagtggggaatgatggcattt	14	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:80113872G>T	uc001vlf.2	+	4	757	c.677G>T	c.(676-678)AGA>ATA	p.R226I	NDFIP2_uc010tib.1_Missense_Mutation_p.R226I|NDFIP2_uc001vlg.2_RNA	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2 isoform 1	226	Cytoplasmic (Potential).				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GACCAGCTCAGAGTGGGGAAT	0.368													T	80113872	G	T	80113872	3	4	158	1	0	0	0	0	1	0	0	0	10246	942	33	5	691	5	NDFIP2	13	80113872	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1636494	80113872	35056006	1947	85728											
SLITRK5	26050	broad.mit.edu	37	chr13	88329619	88329619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcgcaggcggaggggcgtCgtcggtgcccttgtctgtgt	20	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:88329619C>T	uc001vln.2	+	2	2195	c.1976C>T	c.(1975-1977)TCG>TTG	p.S659L	SLITRK5_uc010tic.1_Missense_Mutation_p.S418L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	659	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGAGGGGCGTCGTCGGTGCCC	0.647													T	88329619	C	T	88329619	3	4	158	1	0	0	0	0	1	0	0	0	14746	893	31	1	1978	1	SLITRK5	13	88329619	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	8215747	88329619	26840259	1948	85729											
SLITRK5	26050	broad.mit.edu	37	chr13	88329914	88329914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatcccccacccactgggCcacatgtgcaaaaaccccat	5	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:88329914C>T	uc001vln.2	+	2	2490	c.2271C>T	c.(2269-2271)GGC>GGT	p.G757G	SLITRK5_uc010tic.1_Silent_p.G516G	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	757	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCCACTGGGCCACATGTGCA	0.632													T	88329914	C	T	88329914	2	4	158	1	0	0	0	0	0	0	0	1	14746	726	26	2		2	SLITRK5	13	88329914	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	295	88329914	26839964	1949	85730											
GPC5	2262	broad.mit.edu	37	chr13	92051399	92051399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagacctgcgaagaagtTcggaaacttttccagtggcg	13	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:92051399T>C	uc010tif.1	+	1	465	c.99T>C	c.(97-99)GTT>GTC	p.V33V		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	33						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCGAAGAAGTTCGGAAACTTT	0.677													C	92051399	T	C	92051399	2	2	158	1	0	0	0	0	0	0	0	1	6601	1770	62	3		3	GPC5	13	92051399	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	3721485	92051399	23118479	1950	85731											
SLC15A1	6564	broad.mit.edu	37	chr13	99364825	99364826	+	Frame_Shift_Ins	INS	-	-	T													actccgatgcctaaatctatINSttttgatggcaaactgaagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:99364824_99364825A>AT	uc001vno.3	-	9	814_815	c.737_738T>AT	c.(736-738)aatfs	p.N246fs		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	246					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)	GCCTAAATCTATTTTTGATGGC	0.411													T	99364826	-	T	99364825	7	5	158	1	0	1	1	0	0	0	0	0	14398	1493	52	0	1445	0	SLC15A1	13	99364825	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	7313426	99364825	15805053	1951	85732											
SLC15A1	6564	broad.mit.edu	37	chr13	99368134	99368134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgagatacttacacCgatgcacttggccactttac	8	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:99368134C>T	uc001vno.2	-	9	798	c.721G>A	c.(721-723)GGT>AGT	p.G241S		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	241	Cytoplasmic (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATACTTACACCGATGCACTTG	0.403													T	99368134	C	T	99368134	3	4	158	1	0	0	0	0	1	0	0	0	14398	652	23	1	1465	1	SLC15A1	13	99368134	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3309	99368134	15801744	1952	85733											
CLYBL	171425	broad.mit.edu	37	chr13	100517133	100517134	+	Frame_Shift_Ins	INS	-	-	T													ctctttctagatgcagtcgtINSttttggaggagaagactttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:100517132_100517133G>GT	uc001vok.3	+	4	632_633	c.601_602G>GT	c.(601-603)gttfs	p.V201fs	CLYBL_uc010tix.2_Frame_Shift_Ins_p.V201fs|CLYBL_uc010tiy.2_Frame_Shift_Ins_p.V167fs	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	201					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGATGCAGTCGTTTTTGGAGGA	0.436													T	100517134	-	T	100517133	7	5	158	1	0	1	1	0	0	0	0	0	3573	1725	60	0	620	0	CLYBL	13	100517133	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1148999	100517133	14652745	1953	85734											
SLC10A2	6555	broad.mit.edu	37	chr13	103701701	103701701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcgggaaggtgaatAcgacattgagctcctcagga	14	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:103701701A>G	uc001vpy.3	-	5	1454	c.857T>C	c.(856-858)GTA>GCA	p.V286A		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	286	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGGTGAATACGACATTGAG	0.468													G	103701701	A	G	103701701	3	3	158	1	0	0	0	0	1	0	0	0	14374	391	14	3	197	3	SLC10A2	13	103701701	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3184568	103701701	11468177	1954	85735											
TNFSF13B	10673	broad.mit.edu	37	chr13	108959260	108959260	+	Frame_Shift_Del	DEL	T	T	-													cactggatggagatgtcacaTtttttggtgcattgaaactg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:108959260delT	uc001vqr.2	+	6	1099	c.832delT	c.(832-834)TTTfs	p.F278fs	TNFSF13B_uc010agj.2_Frame_Shift_Del_p.F259fs	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	278	Extracellular (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			AGATGTCACATTTTTTGGTGC	0.388													-	108959260	T	-	108959260	7	5	158	1	0	1	0	1	0	0	0	0	16303	1493	52	0	854	0	TNFSF13B	13	108959260	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	5257559	108959260	6210618	1955	85736											
IRS2	8660	broad.mit.edu	37	chr13	110434611	110434611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcggctggggtggcaGcccgggctcctccctcacgt	16	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110434611G>A	uc001vqv.2	-	1	4304	c.3790C>T	c.(3790-3792)CTG>TTG	p.L1264L		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1264					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			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	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)			tggggtggcagcCCGGGCTCC	0.498													A	110434611	G	A	110434611	2	1	158	1	0	0	0	0	0	0	0	1	7841	962	34	2		2	IRS2	13	110434611	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1475351	110434611	4735267	1956	85737											
IRS2	8660	broad.mit.edu	37	chr13	110434772	110434772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcggtgccaaagggggcGccggctgcaactgtcgtggg	18	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110434772G>A	uc001vqv.2	-	1	4143	c.3629C>T	c.(3628-3630)GCG>GTG	p.A1210V		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1210					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			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	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)			CAAAGGGGGCGCCGGCTGCAA	0.711													A	110434772	G	A	110434772	3	1	158	1	0	0	0	0	1	0	0	0	7841	1087	38	1	395	1	IRS2	13	110434772	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	161	110434772	4735106	1957	85738											
IRS2	8660	broad.mit.edu	37	chr13	110436686	110436686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggagtaggtcctcttgCgcagccctcggtccaggtcc	13	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110436686C>T	uc001vqv.2	-	1	2229	c.1715G>A	c.(1714-1716)CGC>CAC	p.R572H		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	572					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			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	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)			GGTCCTCTTGCGCAGCCCTCG	0.692													T	110436686	C	T	110436686	3	4	158	1	0	0	0	0	1	0	0	0	7841	768	27	1	2309	1	IRS2	13	110436686	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1914	110436686	4733192	1958	85739											
COL4A1	1282	broad.mit.edu	37	chr13	110831696	110831696	+	Frame_Shift_Del	DEL	C	C	-													taccccaatgctccccttctCcccgggtgtgccaggaatgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110831695_110831695TC>T	uc001vqw.4	-	29	2389	c.2267_2267GA>A	c.(2266-2268)gagfs	p.E756fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	756	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)			GCTCCCCTTCTCCCCGGGTGT	0.582													-	110831696	C	-	110831696	7	5	158	1	0	1	0	1	0	0	0	0	3689	864	30	0	2835	0	COL4A1	13	110831696	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	395010	110831696	4338182	1959	85740											
ATP11A	23250	broad.mit.edu	37	chr13	113516786	113516786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgccctgctgcgctggcGcgtgttcatctactggacgc	13	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:113516786G>A	uc001vsi.3	+	25	2976	c.2888G>A	c.(2887-2889)CGC>CAC	p.R963H	ATP11A_uc001vsj.3_Missense_Mutation_p.R963H|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	963	Cytoplasmic (Potential).				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			large_intestine(2)|ovary(2)	4	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)				CTGCGCTGGCGCGTGTTCATC	0.567													A	113516786	G	A	113516786	3	1	158	1	0	0	0	0	1	0	0	0	1119	1087	38	1	2986	1	ATP11A	13	113516786	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2685090	113516786	1653092	1960	85741											
CUL4A	8451	broad.mit.edu	37	chr13	113899329	113899329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccttgttgggaaaagtgCctcagtcgatgctgaaaagt	11	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:113899329C>T	uc010tjy.1	+	14	1411	c.1400C>T	c.(1399-1401)GCC>GTC	p.A467V	CUL4A_uc010tjx.1_Missense_Mutation_p.A367V|CUL4A_uc010agu.2_Missense_Mutation_p.A328V|CUL4A_uc010tjz.1_Missense_Mutation_p.A146V	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	467					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			central_nervous_system(2)|skin(1)	3	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)			GGGAAAAGTGCCTCAGTCGAT	0.433													T	113899329	C	T	113899329	3	4	158	1	0	0	0	0	1	0	0	0	4057	739	26	2	1450	2	CUL4A	13	113899329	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	382543	113899329	1270549	1961	85742											
CUL4A	8451	broad.mit.edu	37	chr13	113900350	113900350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctactggccaacatacacGcccatggaagtgcacttaac	9	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:113900350G>A	uc010tjy.1	+	16	1622	c.1611G>A	c.(1609-1611)ACG>ACA	p.T537T	CUL4A_uc010tjx.1_Silent_p.T437T|CUL4A_uc010agu.2_Silent_p.T398T|CUL4A_uc010tjz.1_Silent_p.T216T	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	537					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			central_nervous_system(2)|skin(1)	3	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)			CAACATACACGCCCATGGAAG	0.493													A	113900350	G	A	113900350	2	1	158	1	0	0	0	0	0	0	0	1	4057	1074	38	1		1	CUL4A	13	113900350	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1021	113900350	1269528	1962	85743											
DCUN1D2	55208	broad.mit.edu	37	chr13	114115385	114115385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccattaagaatgtgttcCagagatctaaaaatttaaac	5	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114115385C>A	uc001vtr.1	-	5	626	c.587G>T	c.(586-588)TGG>TTG	p.W196L	DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Missense_Mutation_p.W63L	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain	196	DCUN1.										0	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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GAATGTGTTCCAGAGATCTAA	0.418													A	114115385	C	A	114115385	3	1	158	1	0	0	0	0	1	0	0	0	4314	595	21	5	204	5	DCUN1D2	13	114115385	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	215035	114115385	1054493	1963	85744											
TFDP1	7027	broad.mit.edu	37	chr13	114287502	114287502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgaaggtctgcgagAaggtgcagaggaaagggacc	15	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114287502A>G	uc001vtw.2	+	6	588	c.376A>G	c.(376-378)AAG>GAG	p.K126E	TFDP1_uc010tkd.1_Missense_Mutation_p.K31E|TFDP1_uc010tke.1_Missense_Mutation_p.K31E|TFDP1_uc001vty.3_Missense_Mutation_p.K126E|TFDP1_uc001vtx.2_Missense_Mutation_p.K6E|TFDP1_uc010agx.2_Missense_Mutation_p.K126E	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	126	Potential.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGTCTGCGAGAAGGTGCAGAG	0.507										TSP Lung(29;0.18)			G	114287502	A	G	114287502	3	3	158	1	0	0	0	0	1	0	0	0	15794	247	9	3	394	3	TFDP1	13	114287502	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	172117	114287502	882376	1964	85745											
FAM70B	348013	broad.mit.edu	37	chr13	114469114	114469114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgaggaggaagaagacgTcgctctggtttgtggggtct	16	6	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114469114T>C	uc001vuh.2	+	2	100	c.73T>C	c.(73-75)TCG>CCG	p.S25P	FAM70B_uc010tkh.1_Missense_Mutation_p.S25P	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	25						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAAGAAGACGTCGCTCTGGTT	0.637													C	114469114	T	C	114469114	3	2	158	1	0	0	0	0	1	0	0	0	5606	1667	58	3	79	3	FAM70B	13	114469114	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	181612	114469114	700764	1965	85746											
GAS6	2621	broad.mit.edu	37	chr13	114542718	114542719	+	Frame_Shift_Ins	INS	-	-	C													acctttgtcgcagagccggcINSccccccagccagctttacac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114542717_114542718G>GC	uc001vud.3	-	4	602_603	c.449_450C>GC	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; 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	Golgi lumen|endoplasmic reticulum lumen|extracellular space|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)				CGCAGAGCCGGCCCCCCCAGCC	0.649													C	114542719	-	C	114542718	7	5	158	1	0	1	1	0	0	0	0	0	6249	739	26	0	1631	0	GAS6	13	114542718	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	73604	114542718	627160	1966	85747											
TTC5	91875	broad.mit.edu	37	chr14	20760198	20760198	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaggaatggctacagAgtctccaatgagcactcccc	11	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:20760198A>C	uc001vwt.2	-	9	1204	c.1147T>G	c.(1147-1149)TCT>GCT	p.S383A	TTC5_uc001vwu.2_Missense_Mutation_p.S240A	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	383					DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATGGCTACAGAGTCTCCAATG	0.473													C	20760198	A	C	20760198	3	2	158	1	0	0	0	0	1	0	0	0	16708	304	11	5	183	5	TTC5	14	20760198	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08		20760198	86589342	1967	85748											
TEP1	7011	broad.mit.edu	37	chr14	20859819	20859819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcagatagaccaagAcagtgcggcctggcagcagg	13	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:20859819A>C	uc001vxe.2	-	13	2076	c.2036T>G	c.(2035-2037)GTC>GGC	p.V679G	TEP1_uc010ahk.2_Missense_Mutation_p.V29G|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V571G	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	679					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		ATAGACCAAGACAGTGCGGCC	0.527													C	20859819	A	C	20859819	3	2	158	1	0	0	0	0	1	0	0	0	15756	275	10	5	6019	5	TEP1	14	20859819	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	99621	20859819	86489721	1968	85749											
RNASE9	390443	broad.mit.edu	37	chr14	21025106	21025106	+	Frame_Shift_Del	DEL	T	T	-													aaacactcttcaaattcttcTtttttatcttcttctgggaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:21025105_21025105CT>C	uc010ahp.3	-	4	394	c.139_139AG>G	c.(139-141)gaafs	p.E47fs	RNASE9_uc010aho.3_Frame_Shift_Del_p.E42fs|RNASE9_uc001vxq.4_Frame_Shift_Del_p.E47fs|RNASE9_uc010ahq.3_Frame_Shift_Del_p.E47fs|RNASE9_uc010ahr.3_Frame_Shift_Del_p.E47fs|RNASE9_uc010ahs.3_Frame_Shift_Del_p.E42fs|RNASE9_uc010aht.3_Frame_Shift_Del_p.E42fs|RNASE9_uc010ahu.3_Frame_Shift_Del_p.E42fs|RNASE9_uc021rnt.1_Frame_Shift_Del_p.E42fs	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	42						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)		TCAAATTCTTCTTTTTTATCT	0.438													-	21025106	T	-	21025106	7	5	158	1	0	1	0	1	0	0	0	0	13410	1606	56	0	498	0	RNASE9	14	21025106	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	165287	21025106	86324434	1969	85750											
TOX4	9878	broad.mit.edu	37	chr14	21957415	21957415	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaagaaagatcctaaTgaacctcagaaaccagtttc	6	8	1	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:21957415T>C	uc001waz.2	+	5	766	c.663T>C	c.(661-663)AAT>AAC	p.N221N	TOX4_uc001way.2_Silent_p.N91N|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.N198N|TOX4_uc010tlv.1_Silent_p.N91N	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	221						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AAGATCCTAATGAACCTCAGA	0.438													C	21957415	T	C	21957415	2	2	158	1	0	0	0	0	0	0	0	1	16377	1461	51	3		3	TOX4	14	21957415	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	932309	21957415	85392125	1970	85751											
SLC7A7	9056	broad.mit.edu	37	chr14	23243168	23243168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttcggaggtaaagcggtCgcttatgttctggcactctg	12	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23243168C>T	uc001wgr.3	-	9	1541	c.1403G>A	c.(1402-1404)CGA>CAA	p.R468Q	SLC7A7_uc001wgs.3_Missense_Mutation_p.R468Q|SLC7A7_uc001wgt.3_Missense_Mutation_p.R468Q|SLC7A7_uc001wgu.3_Missense_Mutation_p.R468Q|SLC7A7_uc001wgv.3_Missense_Mutation_p.R468Q	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	468					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			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GTAAAGCGGTCGCTTATGTTC	0.498													T	23243168	C	T	23243168	3	4	158	1	0	0	0	0	1	0	0	0	14703	884	31	1	140	1	SLC7A7	14	23243168	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1285753	23243168	84106372	1971	85752											
MMP14	4323	broad.mit.edu	37	chr14	23311783	23311783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacatcatgatcttctttgCcgagggcttccatggcgaca	10	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23311783C>T	uc001whc.2	+	4	779	c.545C>T	c.(544-546)GCC>GTC	p.A182V		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	182	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ATCTTCTTTGCCGAGGGCTTC	0.617													T	23311783	C	T	23311783	3	4	158	1	0	0	0	0	1	0	0	0	9653	739	26	2	559	2	MMP14	14	23311783	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	68615	23311783	84037757	1972	85753											
ACIN1	22985	broad.mit.edu	37	chr14	23528387	23528387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccggtcccgcacaggTgtgctccgactccggcttct	10	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23528387T>C	uc001wit.3	-	19	4324	c.3996A>G	c.(3994-3996)ACA>ACG	p.T1332T	CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.T574T|ACIN1_uc001wiq.3_Silent_p.T574T|ACIN1_uc001wir.3_Silent_p.T605T|ACIN1_uc001wis.3_Silent_p.T1013T|ACIN1_uc010akg.2_Silent_p.T1319T	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1332	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCCGCACAGGTGTGCTCCGAC	0.642											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	23528387	T	C	23528387	2	2	158	1	0	0	0	0	0	0	0	1	142	1683	59	3		3	ACIN1	14	23528387	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	216604	23528387	83821153	1973	85754											
NGDN	25983	broad.mit.edu	37	chr14	23944509	23944509	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagttttgagactggtggagAttcgcacggtatgaagcatt	13	6	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23944509A>T	uc001wjy.2	+	4	301	c.274A>T	c.(274-276)ATT>TTT	p.I92F	NGDN_uc001wjz.2_Missense_Mutation_p.I92F|NGDN_uc001wka.2_5'Flank	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	92	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ACTGGTGGAGATTCGCACGGT	0.453													T	23944509	A	T	23944509	3	4	158	1	0	0	0	0	1	0	0	0	10393	333	12	5	288	5	NGDN	14	23944509	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	416122	23944509	83405031	1974	85755											
DHRS4L1	728635	broad.mit.edu	37	chr14	24507062	24507062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgctgcagggggaggGgctgagcatgacgggcactg	20	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24507062G>T	uc010alc.2	+	2	239	c.239G>T	c.(238-240)GGG>GTG	p.G80V	DHRS4L1_uc010tnu.1_Intron	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	80							binding|oxidoreductase activity				0						CAGGGGGAGGGGCTGAGCATG	0.667													T	24507062	G	T	24507062	3	4	158	1	0	0	0	0	1	0	0	0	4493	1232	43	5	245	5	DHRS4L1	14	24507062	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	562553	24507062	82842478	1975	85756											
LRRC16B	90668	broad.mit.edu	37	chr14	24523933	24523933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaggtgtttgatccggCgtggaaacgcagacacccca	11	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24523933C>T	uc001wlj.2	+	6	533	c.376C>T	c.(376-378)CGT>TGT	p.R126C		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	126										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TTTGATCCGGCGTGGAAACGC	0.547													T	24523933	C	T	24523933	3	4	158	1	0	0	0	0	1	0	0	0	8972	768	27	1	398	1	LRRC16B	14	24523933	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	16871	24523933	82825607	1976	85757											
RNF31	55072	broad.mit.edu	37	chr14	24620458	24620458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtcctggagatggtggCtgagctggctggacagcagg	17	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24620458C>T	uc001wmn.1	+	9	1856	c.1607C>T	c.(1606-1608)GCT>GTT	p.A536V	RNF31_uc001wml.1_Missense_Mutation_p.A385V|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Intron|RNF31_uc001wmo.1_Missense_Mutation_p.A3V|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	536					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GAGATGGTGGCTGAGCTGGCT	0.617													T	24620458	C	T	24620458	3	4	158	1	0	0	0	0	1	0	0	0	13487	797	28	2	1641	2	RNF31	14	24620458	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	96525	24620458	82729082	1977	85758											
IRF9	10379	broad.mit.edu	37	chr14	24633858	24633858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttcatctacaacgggCgcgtggtgggcgaggcccag	14	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24633858C>T	uc001wmq.2	+	7	812	c.685C>T	c.(685-687)CGC>TGC	p.R229C	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Intron	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	229					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CTACAACGGGCGCGTGGTGGG	0.637													T	24633858	C	T	24633858	3	4	158	1	0	0	0	0	1	0	0	0	7837	768	27	1	707	1	IRF9	14	24633858	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	13400	24633858	82715682	1978	85759											
IPO4	79711	broad.mit.edu	37	chr14	24654689	24654689	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttttctgagaactggccCagggcaaacagcgcagcatt	12	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24654689C>A	uc001wmv.1	-	13	1385	c.1254G>T	c.(1252-1254)CTG>CTT	p.L418L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.L80L|IPO4_uc001wmx.1_Silent_p.L282L|IPO4_uc001wmy.1_Silent_p.L282L|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.L418L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	418	HEAT 2.				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		AGAACTGGCCCAGGGCAAACA	0.562													A	24654689	C	A	24654689	2	1	158	1	0	0	0	0	0	0	0	1	7795	581	21	5		5	IPO4	14	24654689	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	20831	24654689	82694851	1979	85760											
ADCY4	196883	broad.mit.edu	37	chr14	24800306	24800306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactcgctggccagccgcGtgaagcccacgatgtcagca	11	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24800306G>A	uc001wov.2	-	6	854	c.848C>T	c.(847-849)ACG>ATG	p.T283M	ADCY4_uc001wow.2_Missense_Mutation_p.T283M|ADCY4_uc010toh.1_Translation_Start_Site|ADCY4_uc001wox.2_Missense_Mutation_p.T283M|ADCY4_uc001woy.2_Missense_Mutation_p.T283M	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	283	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GGCCAGCCGCGTGAAGCCCAC	0.587													A	24800306	G	A	24800306	3	1	158	1	0	0	0	0	1	0	0	0	296	1145	40	1	2465	1	ADCY4	14	24800306	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	145617	24800306	82549234	1980	85761											
RIPK3	11035	broad.mit.edu	37	chr14	24808695	24808695	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccgccacatcgtagccCcacttcctatgttgcgcccg	8	17	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24808695C>T	uc001wpb.2	-	2	339	c.129G>A	c.(127-129)TGG>TGA	p.W43*	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Nonsense_Mutation_p.W43*	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	43	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		CATCGTAGCCCCACTTCCTAT	0.622													T	24808695	C	T	24808695	4	4	158	1	0	0	0	0	0	1	0	0	13382	624	22	4	1463	4	RIPK3	14	24808695	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	8389	24808695	82540845	1981	85762											
NYNRIN	57523	broad.mit.edu	37	chr14	24877215	24877215	+	Frame_Shift_Del	DEL	C	C	-													cttgcctacctggtgcctggCccccctggctccctgatggt					rs10148781	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24877215delC	uc001wpf.3	+	3	657	c.339delC	c.(337-339)GGCfs	p.G113fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	113					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGGTGCCTGGCCCCCCTGGCT	0.657													-	24877215	C	-	24877215	7	5	158	1	0	1	0	1	0	0	0	0	10796	726	26	0	345	0	NYNRIN	14	24877215	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	68520	24877215	82472325	1982	85763											
STRN3	29966	broad.mit.edu	37	chr14	31381213	31381213	+	Splice_Site	DEL	T	T	-													gctaacactaaaatacttgcTttttggcaggaactgttttt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:31381212_31381212CT>C	uc001wqu.2	-	11	1766	c.1550_splice	c.e11+1	p.K517_splice	STRN3_uc001wqv.2_Splice_Site_p.K433_splice|STRN3_uc010tpj.1_Splice_Site	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	517					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	Golgi apparatus|cytoplasm|dendrite|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)		AAAATACTTGCTTTTTGGCAG	0.378													-	31381213	T	-	31381213	8	5	158	1	0	1	0	1	0	0	1	0	15329	1623	56	0	875	0	STRN3	14	31381213	Splice_Site	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	6503998	31381213	75968327	1983	85764											
HECTD1	25831	broad.mit.edu	37	chr14	31604737	31604737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaaaatcatgctggtGccgaaatataaaattttgtc	6	7	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:31604737G>A	uc001wrc.1	-	21	3688	c.3199C>T	c.(3199-3201)CAC>TAC	p.H1067Y	HECTD1_uc001wrd.1_Missense_Mutation_p.H582Y	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1067					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		TCATGCTGGTGCCGAAATATA	0.323													A	31604737	G	A	31604737	3	1	158	1	0	0	0	0	1	0	0	0	7039	1319	46	2	4725	2	HECTD1	14	31604737	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	223524	31604737	75744803	1984	85765											
NUBPL	80224	broad.mit.edu	37	chr14	32295920	32295920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgcagagtccacgtgccCgtaagcgtttacagcttcac	9	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:32295920C>T	uc001wrk.3	+	8	748	c.693C>T	c.(691-693)CCC>CCT	p.P231P	NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Silent_p.P135P	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	231					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TCCACGTGCCCGTAAGCGTTT	0.423													T	32295920	C	T	32295920	2	4	158	1	0	0	0	0	0	0	0	1	10717	666	23	1		1	NUBPL	14	32295920	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	691183	32295920	75053620	1985	85766											
ARHGAP5	394	broad.mit.edu	37	chr14	32560445	32560445	+	Frame_Shift_Del	DEL	A	A	-													tttgtccagttatcaaaatcAaaaaaacctgtaataatagc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:32560444_32560444CA>C	uc001wrl.3	+	1	808	c.569_569CA>C	c.(568-570)tcafs	p.S190fs	ARHGAP5_uc001wrm.3_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wrn.3_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	190					Rho protein signal transduction|cell adhesion	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)		TTATCAAAATCAAAAAAACCT	0.308													-	32560445	A	-	32560445	7	5	158	1	0	1	0	1	0	0	0	0	886	117	5	0	572	0	ARHGAP5	14	32560445	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	264525	32560445	74789095	1986	85767											
SRP54	6729	broad.mit.edu	37	chr14	35497356	35497356	+	Frame_Shift_Del	DEL	A	A	-													aattgaaccaacaaatggccAaaatgatggatcctagggtt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:35497355_35497355CA>C	uc001wso.3	+	14	1740	c.1389_1389CA>C	c.(1387-1389)gccfs	p.A463fs	SRP54_uc010tpp.2_Frame_Shift_Del_p.A414fs|SRP54_uc010tpq.2_Frame_Shift_Del_p.A399fs	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	463	M-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AACAAATGGCCAAAATGATGG	0.388													-	35497356	A	-	35497356	7	5	158	1	0	1	0	1	0	0	0	0	15154	131	5	0	1444	0	SRP54	14	35497356	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2936911	35497356	71852184	1987	85768											
INSM2	84684	broad.mit.edu	37	chr14	36004421	36004421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgtcctgcggctgcaaaCgccgccacagtctcctccgc	10	20	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:36004421C>T	uc001wth.1	+	1	1174	c.963C>T	c.(961-963)AAC>AAT	p.N321N		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	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)		CGGCTGCAAACGCCGCCACAG	0.652													T	36004421	C	T	36004421	2	4	158	1	0	0	0	0	0	0	0	1	7772	535	19	1		1	INSM2	14	36004421	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	507065	36004421	71345119	1988	85769											
PAX9	5083	broad.mit.edu	37	chr14	37132287	37132287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcgatacaacgagacgGgctcgatcttgccaggagcc	14	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:37132287G>A	uc001wty.3	+	3	907	c.190G>A	c.(190-192)GGC>AGC	p.G64S	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	64	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		CAACGAGACGGGCTCGATCTT	0.642													A	37132287	G	A	37132287	3	1	158	1	0	0	0	0	1	0	0	0	11486	1232	43	4	196	4	PAX9	14	37132287	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1127866	37132287	70217253	1989	85770											
CLEC14A	161198	broad.mit.edu	37	chr14	38724473	38724473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcgcatttgccagcaCggaggtacctcccggggcag	14	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:38724473C>T	uc001wum.1	-	1	1102	c.755G>A	c.(754-756)CGT>CAT	p.R252H		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	252	Extracellular (Potential).|EGF-like.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTTGCCAGCACGGAGGTACCT	0.617													T	38724473	C	T	38724473	3	4	158	1	0	0	0	0	1	0	0	0	3499	536	19	1	721	1	CLEC14A	14	38724473	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1592186	38724473	68625067	1990	85771											
FSCB	84075	broad.mit.edu	37	chr14	44975176	44975176	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctacagaaggagactcttCagctgatggaggctgaattt	11	8	3	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:44975176C>T	uc001wvn.2	-	1	1324	c.1015G>A	c.(1015-1017)GAA>AAA	p.E339K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	339	Pro-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517													T	44975176	C	T	44975176	3	4	158	1	0	0	0	0	1	0	0	0	6066	835	29	4	1466	4	FSCB	14	44975176	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6250703	44975176	62374364	1991	85772											
FSCB	84075	broad.mit.edu	37	chr14	44975348	44975348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagcaggtctgggctcCgctttagcagtggcctcttc	11	13	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:44975348C>T	uc001wvn.2	-	1	1152	c.843G>A	c.(841-843)GCG>GCA	p.A281A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GTCTGGGCTCCGCTTTAGCAG	0.478													T	44975348	C	T	44975348	2	4	158	1	0	0	0	0	0	0	0	1	6066	639	23	1		1	FSCB	14	44975348	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	172	44975348	62374192	1992	85773											
C14orf106	55320	broad.mit.edu	37	chr14	45693302	45693302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagctttcttttgtttgaTataaaattcattttcacttt	3	6	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:45693302T>C	uc001wwf.2	-	11	2947	c.2488A>G	c.(2488-2490)ATC>GTC	p.I830V		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	830					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TTTTGTTTGATATAAAATTCA	0.373													C	45693302	T	C	45693302	3	2	158	1	0	0	0	0	1	0	0	0	1738	1406	49	3	938	3	C14orf106	14	45693302	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	717954	45693302	61656238	1993	85774											
TXNDC16	57544	broad.mit.edu	37	chr14	52907344	52907344	+	Frame_Shift_Del	DEL	T	T	-													tttaccagtgtcaatattgcTtttttatactgaggatttac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:52907344delT	uc001wzs.2	-	19	2390	c.1941delA	c.(1939-1941)AAAfs	p.K647fs	TXNDC16_uc010tqu.1_Frame_Shift_Del_p.K642fs|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	647					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TCAATATTGCTTTTTTATACT	0.328													-	52907344	T	-	52907344	7	5	158	1	0	1	0	1	0	0	0	0	16792	1606	56	0	548	0	TXNDC16	14	52907344	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	7214042	52907344	54442196	1994	85775											
DDHD1	80821	broad.mit.edu	37	chr14	53513591	53513591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaccaataggcagtatgCgacgtgacagctgaccaata	11	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:53513591C>T	uc001xai.2	-	13	2828	c.2598G>A	c.(2596-2598)TCG>TCA	p.S866S	DDHD1_uc001xaj.2_Silent_p.S845S|DDHD1_uc001xah.2_Silent_p.S838S|DDHD1_uc001xag.2_Silent_p.S420S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	866	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					AGGCAGTATGCGACGTGACAG	0.408													T	53513591	C	T	53513591	2	4	158	1	0	0	0	0	0	0	0	1	4326	755	27	1		1	DDHD1	14	53513591	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	606247	53513591	53835949	1995	85776											
OTX2	5015	broad.mit.edu	37	chr14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-													cctctcccggcgctgtttccGgggggtggctgcgggacaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632													-	57271049	G	-	57271049	7	5	158	1	0	1	0	1	0	0	0	0	11321	1115	39	0	771	0	OTX2	14	57271049	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	3757458	57271049	50078491	1996	85777											
KIAA0586	9786	broad.mit.edu	37	chr14	58955434	58955434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttatgccatttcctgCcggcaccaaggccccttccc	6	19	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:58955434C>T	uc001xdv.3	+	23	3668	c.3395C>T	c.(3394-3396)GCC>GTC	p.A1132V	KIAA0586_uc010trr.1_Missense_Mutation_p.A1249V|KIAA0586_uc001xdt.3_Missense_Mutation_p.A1164V|KIAA0586_uc001xdu.3_Missense_Mutation_p.A1193V|KIAA0586_uc010trs.1_Missense_Mutation_p.A1123V|KIAA0586_uc010trt.1_Missense_Mutation_p.A1068V	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1132										ovary(1)	1						CCATTTCCTGCCGGCACCAAG	0.493													T	58955434	C	T	58955434	3	4	158	1	0	0	0	0	1	0	0	0	8186	739	26	2	3485	2	KIAA0586	14	58955434	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1684385	58955434	48394106	1997	85778											
DACT1	51339	broad.mit.edu	37	chr14	59113370	59113370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaagcgaactgactacCggcggtggaagtcctcggcc	13	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:59113370C>T	uc001xdw.2	+	4	2193	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W	DACT1_uc010trv.1_Missense_Mutation_p.R396W|DACT1_uc001xdx.2_Missense_Mutation_p.R640W|DACT1_uc010trw.1_Missense_Mutation_p.R396W	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	677					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						AACTGACTACCGGCGGTGGAA	0.721													T	59113370	C	T	59113370	3	4	158	1	0	0	0	0	1	0	0	0	4222	643	23	1	2043	1	DACT1	14	59113370	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	157936	59113370	48236170	1998	85779											
DACT1	51339	broad.mit.edu	37	chr14	59113705	59113705	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaatttggtcccagtttgtCcagactctgcccattcaaac	6	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:59113705C>T	uc001xdw.2	+	4	2528	c.2364C>T	c.(2362-2364)GTC>GTT	p.V788V	DACT1_uc010trv.1_Silent_p.V507V|DACT1_uc001xdx.2_Silent_p.V751V|DACT1_uc010trw.1_Silent_p.V507V	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	788					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCCAGTTTGTCCAGACTCTGC	0.537													T	59113705	C	T	59113705	2	4	158	1	0	0	0	0	0	0	0	1	4222	842	30	4		4	DACT1	14	59113705	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	335	59113705	48235835	1999	85780											
SLC38A6	145389	broad.mit.edu	37	chr14	61518564	61518564	+	Frame_Shift_Del	DEL	T	T	-													ccattctcatggattcgccaTtttttgatcactctagcact							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:61518563_61518563AT>A	uc001xfh.2	+	13	1273	c.1109_1109AT>A	c.(1108-1110)catfs	p.H370fs	SLC38A6_uc001xfg.2_Frame_Shift_Del_p.H370fs|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Frame_Shift_Del_p.H347fs	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	370					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGGATTCGCCATTTTTTGATC	0.328													-	61518564	T	-	61518564	7	5	158	1	0	1	0	1	0	0	0	0	14608	1490	52	0	1164	0	SLC38A6	14	61518564	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	2404859	61518564	45830976	2000	85781											
KCNH5	27133	broad.mit.edu	37	chr14	63417226	63417226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtttcctagccacacggcCcagtcgtaagagacgcacca	9	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:63417226C>A	uc001xfx.2	-	7	1045	c.994G>T	c.(994-996)GGC>TGC	p.G332C	KCNH5_uc001xfy.2_Missense_Mutation_p.G332C|KCNH5_uc001xfz.1_Missense_Mutation_p.G274C|KCNH5_uc001xga.2_Missense_Mutation_p.G274C	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	332	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCACACGGCCCAGTCGTAAG	0.458													A	63417226	C	A	63417226	3	1	158	1	0	0	0	0	1	0	0	0	8035	623	22	5	2026	5	KCNH5	14	63417226	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1898662	63417226	43932314	2001	85782											
PPP2R5E	5529	broad.mit.edu	37	chr14	63881885	63881885	+	Frame_Shift_Del	DEL	T	T	-													acaaatttctgatctatataTtttttggcaatgctgggttg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:63881884_63881884AT>A	uc001xgd.1	-	4	1113	c.523_523AT>T	c.(523-525)tatfs	p.Y175fs	PPP2R5E_uc010tsf.1_Frame_Shift_Del_p.Y99fs|PPP2R5E_uc010tsg.1_Frame_Shift_Del_p.Y99fs|PPP2R5E_uc010tsh.1_Frame_Shift_Del_p.Y175fs|PPP2R5E_uc001xge.2_Frame_Shift_Del_p.Y175fs|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	175					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)		TGATCTATATATTTTTTGGCA	0.289													-	63881885	T	-	63881885	7	5	158	1	0	1	0	1	0	0	0	0	12396	1490	52	0	921	0	PPP2R5E	14	63881885	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	464659	63881885	43467655	2002	85783											
SYNE2	23224	broad.mit.edu	37	chr14	64586330	64586330	+	Splice_Site	DEL	A	A	-													aagcacagtgaagatcaggtAaaaaatgactatctatggac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64586329_64586329TA>T	uc001xgl.3	+	67	13253	c.13023_splice	c.e67+2	p.Q4341_splice	SYNE2_uc001xgm.3_Splice_Site_p.Q4341_splice|SYNE2_uc021ruh.1_Splice_Site_p.Q4356_splice|SYNE2_uc010apy.3_Splice_Site_p.Q726_splice|SYNE2_uc010apz.1_Splice_Site_p.Q233_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		GAAGATCAGGTAAAAAATGAC	0.423													-	64586330	A	-	64586330	8	5	158	1	0	1	0	1	0	0	1	0	15443	377	13	0		0	SYNE2	14	64586330	Splice_Site	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	704445	64586330	42763210	2003	85784											
SYNE2	23224	broad.mit.edu	37	chr14	64604578	64604578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggcaaacagttggtggCgtctgtgagctgtcctgaat	14	8	1	2	rs144804554	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64604578C>T	uc001xgm.2	+	79	14950	c.14720C>T	c.(14719-14721)GCG>GTG	p.A4907V	SYNE2_uc001xgl.2_Missense_Mutation_p.A4907V|SYNE2_uc010apy.2_Missense_Mutation_p.A1292V|SYNE2_uc001xgn.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4907	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGTTGGTGGCGTCTGTGAGC	0.443													T	64604578	C	T	64604578	3	4	158	1	0	0	0	0	1	0	0	0	15443	768	27	1	15030	1	SYNE2	14	64604578	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	18248	64604578	42744962	2004	85785											
SYNE2	23224	broad.mit.edu	37	chr14	64608081	64608082	+	Frame_Shift_Ins	INS	-	-	A													ttttcaaaagaagttgatgaINSaaaatcctccttgaagactg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64608080_64608081G>GA	uc001xgl.3	+	80	15228_15229	c.14998_14999G>GA	c.(14998-15000)gaafs	p.E5000fs	SYNE2_uc001xgm.3_Frame_Shift_Ins_p.E5000fs|SYNE2_uc010apy.3_Frame_Shift_Ins_p.E1385fs|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5000					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		AGAAGTTGATGAAAAATCCTCC	0.361													A	64608082	-	A	64608081	7	5	158	1	0	1	1	0	0	0	0	0	15443	246	9	0	15317	0	SYNE2	14	64608081	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	3503	64608081	42741459	2005	85786											
SYNE2	23224	broad.mit.edu	37	chr14	64630228	64630228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacccacatgctcctcccgGgccccctgcactctctccag	7	22	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64630228G>T	uc001xgm.2	+	89	16638	c.16408G>T	c.(16408-16410)GGC>TGC	p.G5470C	SYNE2_uc001xgl.2_Missense_Mutation_p.G5470C|SYNE2_uc010apy.2_Missense_Mutation_p.G1855C|SYNE2_uc001xgn.2_Missense_Mutation_p.G432C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5470	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTCCTCCCGGGCCCCCTGCA	0.478													T	64630228	G	T	64630228	3	4	158	1	0	0	0	0	1	0	0	0	15443	1232	43	5	16758	5	SYNE2	14	64630228	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	22147	64630228	42719312	2006	85787											
SYNE2	23224	broad.mit.edu	37	chr14	64690024	64690024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagctgaagaaaaggtgCatgttattgagaagaaactc	11	4	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64690024C>T	uc001xgm.2	+	112	20469	c.20239C>T	c.(20239-20241)CAT>TAT	p.H6747Y	SYNE2_uc001xgl.2_Missense_Mutation_p.H6770Y|SYNE2_uc010apy.2_Missense_Mutation_p.H3132Y|SYNE2_uc001xgn.2_Missense_Mutation_p.H1709Y|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.H717Y|SYNE2_uc001xgq.2_Missense_Mutation_p.H1126Y|SYNE2_uc001xgr.2_Missense_Mutation_p.H530Y|SYNE2_uc010tsi.1_Missense_Mutation_p.H404Y|SYNE2_uc001xgs.2_Missense_Mutation_p.H418Y|SYNE2_uc001xgt.2_Missense_Mutation_p.H292Y	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6747	Potential.|Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAAAGGTGCATGTTATTGA	0.433													T	64690024	C	T	64690024	3	4	158	1	0	0	0	0	1	0	0	0	15443	710	25	2	20796	2	SYNE2	14	64690024	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	59796	64690024	42659516	2007	85788											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197815	65197815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggtggaggatgccatTgacaccatgacctgtgtggc	16	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:65197815T>C	uc001xho.1	+	7	1046	c.777T>C	c.(775-777)ATT>ATC	p.I259I	PLEKHG3_uc001xhn.1_Silent_p.I203I|PLEKHG3_uc001xhp.2_Silent_p.I259I|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	259	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGATGCCATTGACACCATGA	0.577													C	65197815	T	C	65197815	2	2	158	1	0	0	0	0	0	0	0	1	12070	1800	63	3		3	PLEKHG3	14	65197815	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	507791	65197815	42151725	2008	85789											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208145	65208145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccgcggctggtcagccGgagcagcagcgtgctcagcc	16	15	2	0	rs141823128		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:65208145G>A	uc001xho.1	+	16	2179	c.1910G>A	c.(1909-1911)CGG>CAG	p.R637Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R581Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R758Q|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R179Q|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R142Q	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	637					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGTCAGCCGGAGCAGCAGC	0.657													A	65208145	G	A	65208145	3	1	158	1	0	0	0	0	1	0	0	0	12070	1116	39	1	1792	1	PLEKHG3	14	65208145	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	10330	65208145	42141395	2009	85790											
SPTB	6710	broad.mit.edu	37	chr14	65239533	65239533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacatctcgttcagcccgTccttccactcggcgatggtg	9	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:65239533T>C	uc001xht.2	-	25	5372	c.5318A>G	c.(5317-5319)GAC>GGC	p.D1773G	SPTB_uc001xhr.2_Missense_Mutation_p.D1773G|SPTB_uc001xhs.2_Missense_Mutation_p.D1773G|SPTB_uc001xhu.2_Missense_Mutation_p.D1773G|SPTB_uc010aqi.2_Missense_Mutation_p.D434G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1773	Spectrin 15.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		GTTCAGCCCGTCCTTCCACTC	0.637													C	65239533	T	C	65239533	3	2	158	1	0	0	0	0	1	0	0	0	15117	1667	58	3	1781	3	SPTB	14	65239533	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	31388	65239533	42110007	2010	85791											
RDH12	145226	broad.mit.edu	37	chr14	68193827	68193827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacctccagagcgagaagcGctacagcaggggttttgcct	13	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:68193827G>A	uc001xjz.3	+	7	902	c.578G>A	c.(577-579)CGC>CAC	p.R193H		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	193			R -> C (in retinal dystrophy; uncertain pathogenicity).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AGCGAGAAGCGCTACAGCAGG	0.557													A	68193827	G	A	68193827	3	1	158	1	0	0	0	0	1	0	0	0	13191	1087	38	1	596	1	RDH12	14	68193827	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2954294	68193827	39155713	2011	85792											
ZFYVE26	23503	broad.mit.edu	37	chr14	68217772	68217772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacaattccgctcaccttGttgtcatcattgtgtattgc	8	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:68217772G>A	uc001xka.2	-	41	7552	c.7413C>T	c.(7411-7413)AAC>AAT	p.N2471N	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.N317N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2471					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CGCTCACCTTGTTGTCATCAT	0.517													A	68217772	G	A	68217772	2	1	158	1	0	0	0	0	0	0	0	1	17665	1368	48	4		4	ZFYVE26	14	68217772	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	23945	68217772	39131768	2012	85793											
ADAM21	8747	broad.mit.edu	37	chr14	70924617	70924617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgttttgggggctttcgagGagtattaaaaataagtggcc	13	4	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:70924617G>T	uc001xmd.2	+	1	401	c.401G>T	c.(400-402)GGA>GTA	p.G134V		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	134					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGCTTTCGAGGAGTATTAAAA	0.438													T	70924617	G	T	70924617	3	4	158	1	0	0	0	0	1	0	0	0	243	1174	41	5	403	5	ADAM21	14	70924617	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2706845	70924617	36424923	2013	85794											
ADAM21	8747	broad.mit.edu	37	chr14	70925702	70925702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcaggacgggatccccTgtagtgacagtgcctactgc	13	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:70925702T>C	uc001xmd.2	+	1	1486	c.1486T>C	c.(1486-1488)TGT>CGT	p.C496R		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	496	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGATCCCCTGTAGTGACAG	0.438													C	70925702	T	C	70925702	3	2	158	1	0	0	0	0	1	0	0	0	243	1580	55	3	1488	3	ADAM21	14	70925702	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1085	70925702	36423838	2014	85795											
MAP3K9	4293	broad.mit.edu	37	chr14	71199959	71199959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcactggaggggccatcGccatcctctccacgagggaa	11	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:71199959G>A	uc001xmm.2	-	11	2127	c.2127C>T	c.(2125-2127)GGC>GGT	p.G709G	MAP3K9_uc010ttk.1_Silent_p.G437G|MAP3K9_uc001xmk.2_Silent_p.G442G|MAP3K9_uc001xml.2_Silent_p.G723G	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	709					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGGGCCATCGCCATCCTCTC	0.428													A	71199959	G	A	71199959	2	1	158	1	0	0	0	0	0	0	0	1	9257	1074	38	1		1	MAP3K9	14	71199959	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	274257	71199959	36149581	2015	85796											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055061	72055061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatttctcatgcctgaaGcctaccccagctcccccaga	6	18	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:72055061G>A	uc001xms.2	+	2	820	c.472G>A	c.(472-474)GCC>ACC	p.A158T	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A158T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A158T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A158T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	158					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATGCCTGAAGCCTACCCCAG	0.468													A	72055061	G	A	72055061	3	1	158	1	0	0	0	0	1	0	0	0	14329	971	34	2	474	2	SIPA1L1	14	72055061	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	855102	72055061	35294479	2016	85797											
SIPA1L1	26037	broad.mit.edu	37	chr14	72117190	72117190	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagcgagttcggctcaaaGgatttgagaagtatcgagca	14	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:72117190G>T	uc001xms.2	+	5	2305	c.1957G>T	c.(1957-1959)GGA>TGA	p.G653*	SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.G653*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.G653*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.G653*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.G128*	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	653	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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGGCTCAAAGGATTTGAGAA	0.453													T	72117190	G	T	72117190	4	4	158	1	0	0	0	0	0	1	0	0	14329	1001	35	5	1971	5	SIPA1L1	14	72117190	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	62129	72117190	35232350	2017	85798											
ZFYVE1	53349	broad.mit.edu	37	chr14	73491079	73491079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccgatggagctcctcCtcgcagcggagacactgcag	12	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:73491079C>T	uc001xnm.2	-	2	778	c.138G>A	c.(136-138)GAG>GAA	p.E46E	ZFYVE1_uc010arj.2_Silent_p.E46E	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	46						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			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGAGCTCCTCCTCGCAGCGGA	0.567													T	73491079	C	T	73491079	2	4	158	1	0	0	0	0	0	0	0	1	17660	680	24	4		4	ZFYVE1	14	73491079	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1373889	73491079	33858461	2018	85799											
RBM25	58517	broad.mit.edu	37	chr14	73563627	73563627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttttgtttaagaatgCaaggccagaaactgtcacta	9	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:73563627C>T	uc001xno.2	+	7	756	c.548C>T	c.(547-549)GCA>GTA	p.A183V	RBM25_uc001xnn.3_Missense_Mutation_p.A183V|RBM25_uc010ttu.1_Missense_Mutation_p.A183V|RBM25_uc001xnp.2_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	183					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TTTAAGAATGCAAGGCCAGAA	0.343													T	73563627	C	T	73563627	3	4	158	1	0	0	0	0	1	0	0	0	13125	710	25	2	570	2	RBM25	14	73563627	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	72548	73563627	33785913	2019	85800											
PAPLN	89932	broad.mit.edu	37	chr14	73729212	73729212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctcggagcaagagtgCatgagcagctgccagggatc	14	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:73729212C>T	uc010ttx.1	+	18	2563	c.2400C>T	c.(2398-2400)TGC>TGT	p.C800C	PAPLN_uc001xnw.3_Silent_p.C773C|PAPLN_uc010arl.2_Intron|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.C784C|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'UTR	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	800	BPTI/Kunitz inhibitor.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCAAGAGTGCATGAGCAGCT	0.622													T	73729212	C	T	73729212	2	4	158	1	0	0	0	0	0	0	0	1	11428	718	25	2		2	PAPLN	14	73729212	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	165585	73729212	33620328	2020	85801											
C14orf115	55237	broad.mit.edu	37	chr14	74824125	74824125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccccgccgctgcgaccaCgtgccctccacgctgcacat	10	21	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:74824125C>T	uc001xpw.3	+	2	830	c.639C>T	c.(637-639)CAC>CAT	p.H213H		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	213					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCTGCGACCACGTGCCCTCCA	0.637													T	74824125	C	T	74824125	2	4	158	1	0	0	0	0	0	0	0	1	1740	535	19	1		1	C14orf115	14	74824125	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1094913	74824125	32525415	2021	85802											
C14orf115	55237	broad.mit.edu	37	chr14	74824348	74824348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactctcacctctgtgagCgctacagcgtcaccaaaagc	8	15	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:74824348C>T	uc001xpw.3	+	2	1053	c.862C>T	c.(862-864)CGC>TGC	p.R288C		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	288					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CCTCTGTGAGCGCTACAGCGT	0.647													T	74824348	C	T	74824348	3	4	158	1	0	0	0	0	1	0	0	0	1740	768	27	1	864	1	C14orf115	14	74824348	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	223	74824348	32525192	2022	85803											
RPS6KL1	83694	broad.mit.edu	37	chr14	75373751	75373751	+	Frame_Shift_Del	DEL	A	A	-													tgctccattggatggtactgAaaaagggatgggacttgagt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:75373750_75373750GA>G	uc010tux.2	-	10	2145	c.1617_1617TC>C	c.(1615-1617)ttcfs	p.F539fs	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc021rwp.1_Frame_Shift_Del_p.F508fs	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	539	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGATGGTACTGAAAAAGGGAT	0.612													-	75373751	A	-	75373751	7	5	158	1	0	1	0	1	0	0	0	0	13659	246	9	0	110	0	RPS6KL1	14	75373751	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	549403	75373751	31975789	2023	85804											
MLH3	27030	broad.mit.edu	37	chr14	75515217	75515217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctcatcggaagtcacaCgcttctgaagagtagcatca	8	12	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:75515217C>T	uc001xrd.1	-	2	1358	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H	MLH3_uc001xre.1_Missense_Mutation_p.R381H|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	381					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGAAGTCACACGCTTCTGAAG	0.318								MMR					T	75515217	C	T	75515217	3	4	158	1	0	0	0	0	1	0	0	0	9618	536	19	1	3267	1	MLH3	14	75515217	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	141466	75515217	31834323	2024	85805											
FAM164C	79696	broad.mit.edu	37	chr14	75537318	75537318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcacatctgcctgtgggCgttatgctcccacataatac	9	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:75537318C>T	uc001xri.2	+	2	215	c.42C>T	c.(40-42)GGC>GGT	p.G14G	FAM164C_uc001xrh.2_Silent_p.G14G	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	14										ovary(1)	1						TGCCTGTGGGCGTTATGCTCC	0.557													T	75537318	C	T	75537318	2	4	158	1	0	0	0	0	0	0	0	1	5479	755	27	1		1	FAM164C	14	75537318	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	22101	75537318	31812222	2025	85806											
TGFB3	7043	broad.mit.edu	37	chr14	76437518	76437518	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgacatcaaaggacagCcactcggcagtgccccgtgt	11	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:76437518C>T	uc001xsc.2	-	3	1453	c.597G>A	c.(595-597)TGG>TGA	p.W199*	TGFB3_uc001xsd.2_Nonsense_Mutation_p.W197*	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	199					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			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAAAGGACAGCCACTCGGCAG	0.532													T	76437518	C	T	76437518	4	4	158	1	0	0	0	0	0	1	0	0	15816	740	26	2	661	2	TGFB3	14	76437518	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	900200	76437518	30912022	2026	85807											
AHSA1	10598	broad.mit.edu	37	chr14	77929018	77929018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaagatgagcctgacAcaaatctcgtggccttaatg	9	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:77929018A>G	uc001xtw.2	+	4	548	c.388A>G	c.(388-390)ACA>GCA	p.T130A	AHSA1_uc010tvk.1_Missense_Mutation_p.T130A	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	130					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGAGCCTGACACAAATCTCGT	0.458													G	77929018	A	G	77929018	3	3	158	1	0	0	0	0	1	0	0	0	418	159	6	3	402	3	AHSA1	14	77929018	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1491500	77929018	29420522	2027	85808											
AHSA1	10598	broad.mit.edu	37	chr14	77934510	77934510	+	Frame_Shift_Del	DEL	G	G	-													tggtagatggcaacgtctctGgggaatttactgatctggtg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:77934510delG	uc001xtw.2	+	7	935	c.775delG	c.(775-777)GGGfs	p.G259fs	AHSA1_uc010tvk.1_Frame_Shift_Del_p.G259fs	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	259					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAACGTCTCTGGGGAATTTAC	0.473													-	77934510	G	-	77934510	7	5	158	1	0	1	0	1	0	0	0	0	418	1348	47	0	801	0	AHSA1	14	77934510	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	5492	77934510	29415030	2028	85809											
C14orf145	145508	broad.mit.edu	37	chr14	81251764	81251764	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacgtaatttctcctccttGgagtgaagctcctcctcctg	7	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:81251764G>T	uc001xux.2	-	14	1857	c.1686C>A	c.(1684-1686)TCC>TCA	p.S562S	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	562	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TCTCCTCCTTGGAGTGAAGCT	0.423													T	81251764	G	T	81251764	2	4	158	1	0	0	0	0	0	0	0	1	1749	1335	47	5		5	C14orf145	14	81251764	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3317254	81251764	26097776	2029	85810											
C14orf145	145508	broad.mit.edu	37	chr14	81382809	81382809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtaggaagacttcgagttCccctgtgcgttgatctggca	12	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:81382809C>T	uc001xux.2	-	2	254	c.83G>A	c.(82-84)GGA>GAA	p.G28E	C14orf145_uc001xuz.2_Missense_Mutation_p.G28E|C14orf145_uc001xva.1_Missense_Mutation_p.G28E|C14orf145_uc010ata.1_Missense_Mutation_p.G28E	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	28						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		ACTTCGAGTTCCCCTGTGCGT	0.423													T	81382809	C	T	81382809	3	4	158	1	0	0	0	0	1	0	0	0	1749	855	30	4	3293	4	C14orf145	14	81382809	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	131045	81382809	25966731	2030	85811											
KCNK10	54207	broad.mit.edu	37	chr14	88658749	88658749	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcttggtctgactcacttgCtttttctaggaagagcaaag	9	8	4	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:88658749C>G	uc001xwo.2	-	5	1129	c.672G>C	c.(670-672)AAG>AAC	p.K224N	KCNK10_uc001xwm.2_Missense_Mutation_p.K229N|KCNK10_uc001xwn.2_Missense_Mutation_p.K229N	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	224	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						GACTCACTTGCTTTTTCTAGG	0.448													G	88658749	C	G	88658749	3	3	158	1	0	0	0	0	1	0	0	0	8059	796	28	5	956	5	KCNK10	14	88658749	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7275940	88658749	18690791	2031	85812											
FOXN3	1112	broad.mit.edu	37	chr14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-													tgtcagagtgggcaggggatGggggggtgtcatcgtccagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|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	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587													-	89878534	G	-	89878534	7	5	158	1	0	1	0	1	0	0	0	0	6021	1348	47	0	1209	0	FOXN3	14	89878534	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1219785	89878534	17471006	2032	85813											
C14orf102	55051	broad.mit.edu	37	chr14	90770560	90770560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgagggaggttcagtttTactgctaatggcaactccat	11	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:90770560T>C	uc001xyi.1	-	5	755	c.724A>G	c.(724-726)AAA>GAA	p.K242E	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.K11E	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	242	Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GGTTCAGTTTTACTGCTAATG	0.453													C	90770560	T	C	90770560	3	2	158	1	0	0	0	0	1	0	0	0	1735	1763	61	3	2810	3	C14orf102	14	90770560	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	892026	90770560	16578980	2033	85814											
C14orf159	80017	broad.mit.edu	37	chr14	91666132	91666132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggccatagagcgtgccGgaagagctgctgatggcaat	16	8	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:91666132G>A	uc001xzb.2	+	13	2080	c.1312G>A	c.(1312-1314)GGA>AGA	p.G438R	C14orf159_uc001xyx.2_Missense_Mutation_p.G426R|C14orf159_uc001xyw.2_Missense_Mutation_p.G443R|C14orf159_uc001xzc.2_Missense_Mutation_p.G438R|C14orf159_uc001xza.2_Missense_Mutation_p.G443R|C14orf159_uc001xyv.2_Missense_Mutation_p.G443R|C14orf159_uc001xyz.2_Missense_Mutation_p.G314R|C14orf159_uc001xze.2_Missense_Mutation_p.G438R	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	438						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGAGCGTGCCGGAAGAGCTGC	0.517													A	91666132	G	A	91666132	3	1	158	1	0	0	0	0	1	0	0	0	1755	1117	39	1	1361	1	C14orf159	14	91666132	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	895572	91666132	15683408	2034	85815											
RIN3	79890	broad.mit.edu	37	chr14	93119308	93119308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgccagacctccagcacGgagatgctgcaggagattcg	14	13	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:93119308G>A	uc001yap.2	+	6	2066	c.1914G>A	c.(1912-1914)ACG>ACA	p.T638T	RIN3_uc010auk.2_Silent_p.T300T|RIN3_uc001yaq.2_Silent_p.T563T|RIN3_uc001yar.1_Silent_p.T300T|RIN3_uc001yas.1_Silent_p.T300T	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	638	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCTCCAGCACGGAGATGCTGC	0.627													A	93119308	G	A	93119308	2	1	158	1	0	0	0	0	0	0	0	1	13373	1103	39	1		1	RIN3	14	93119308	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1453176	93119308	14230232	2035	85816											
RIN3	79890	broad.mit.edu	37	chr14	93125675	93125675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctaggtgtgaccaccagCgtgccggaggtgcccatgat	14	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:93125675C>T	uc001yap.2	+	7	2348	c.2196C>T	c.(2194-2196)AGC>AGT	p.S732S	RIN3_uc010auk.2_Silent_p.S394S|RIN3_uc001yaq.2_Silent_p.S657S|RIN3_uc001yar.1_Silent_p.S394S|RIN3_uc001yas.1_Silent_p.S394S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	732	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TGACCACCAGCGTGCCGGAGG	0.552													T	93125675	C	T	93125675	2	4	158	1	0	0	0	0	0	0	0	1	13373	767	27	1		1	RIN3	14	93125675	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6367	93125675	14223865	2036	85817											
GOLGA5	9950	broad.mit.edu	37	chr14	93263965	93263965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactggacctaaatctacGtatatttcatcagcagctga	7	10	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:93263965G>A	uc001yaz.1	+	2	365	c.183G>A	c.(181-183)ACG>ACA	p.T61T		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	61	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTAAATCTACGTATATTTCAT	0.393			T	RET	papillary thyroid								A	93263965	G	A	93263965	2	1	158	1	0	0	0	0	0	0	0	1	6556	1132	40	1		1	GOLGA5	14	93263965	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	138290	93263965	14085575	2037	85818											
KIAA1409	57578	broad.mit.edu	37	chr14	94149032	94149032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcagatgatagcctctGtacctggagtaagtcctgac	11	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:94149032G>A	uc001ybv.1	+	41	6546	c.6463G>A	c.(6463-6465)GTA>ATA	p.V2155I	KIAA1409_uc001ybs.1_Missense_Mutation_p.V2133I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2310						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GATAGCCTCTGTACCTGGAGT	0.269													A	94149032	G	A	94149032	3	1	158	1	0	0	0	0	1	0	0	0	8230	1377	48	4	6555	4	KIAA1409	14	94149032	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	885067	94149032	13200508	2038	85819											
SERPINA10	51156	broad.mit.edu	37	chr14	94754760	94754760	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggcagtttgaggacatgAcaacgaaaattcttgtcaaa	10	6	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:94754760A>G	uc001yct.2	-	3	1321	c.855T>C	c.(853-855)TGT>TGC	p.C285C	SERPINA10_uc001ycu.3_Silent_p.C285C	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	285					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAGGACATGACAACGAAAAT	0.502													G	94754760	A	G	94754760	2	3	158	1	0	0	0	0	0	0	0	1	14087	273	10	3		3	SERPINA10	14	94754760	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	605728	94754760	12594780	2039	85820											
SERPINA5	5104	broad.mit.edu	37	chr14	95056471	95056471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtacccatgatgagccGcgaggatcagtatcactacc	12	12	2	2	rs141881639		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:95056471G>A	uc001ydm.2	+	4	923	c.713G>A	c.(712-714)CGC>CAC	p.R238H	SERPINA5_uc010ave.2_Missense_Mutation_p.R238H|SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	238					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			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATGATGAGCCGCGAGGATCAG	0.562													A	95056471	G	A	95056471	3	1	158	1	0	0	0	0	1	0	0	0	14092	1087	38	1	719	1	SERPINA5	14	95056471	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	301711	95056471	12293069	2040	85821											
DICER1	23405	broad.mit.edu	37	chr14	95590984	95590984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccagaactaccaataCggcacgacagtctgatagta	10	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:95590984C>T	uc001ydw.2	-	9	1107	c.925G>A	c.(925-927)GTA>ATA	p.V309I	DICER1_uc001ydv.2_Missense_Mutation_p.V299I|DICER1_uc001ydx.2_Missense_Mutation_p.V309I	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	309	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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACTACCAATACGGCACGACAG	0.383			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95590984	C	T	95590984	3	4	158	1	0	0	0	0	1	0	0	0	4521	536	19	1	4923	1	DICER1	14	95590984	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	534513	95590984	11758556	2041	85822											
BDKRB2	624	broad.mit.edu	37	chr14	96707293	96707293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagggccacaacgtcaccGcttgtgtcatcagctaccca	9	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:96707293G>A	uc010avm.1	+	3	824	c.628G>A	c.(628-630)GCT>ACT	p.A210T	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.A183T|BDKRB2_uc001yfg.2_Missense_Mutation_p.A210T	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	210	Extracellular (Potential).				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			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CAACGTCACCGCTTGTGTCAT	0.567													A	96707293	G	A	96707293	3	1	158	1	0	0	0	0	1	0	0	0	1393	1087	38	1	634	1	BDKRB2	14	96707293	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1116309	96707293	10642247	2042	85823											
ATG2B	55102	broad.mit.edu	37	chr14	96756052	96756052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtctactggctggtgggCtaaccggtgatgaggaaacc	15	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:96756052C>T	uc001yfi.2	-	41	6312	c.5947G>A	c.(5947-5949)GCC>ACC	p.A1983T		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1983										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTGGTGGGCTAACCGGTGA	0.507													T	96756052	C	T	96756052	3	4	158	1	0	0	0	0	1	0	0	0	1094	797	28	2	297	2	ATG2B	14	96756052	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	48759	96756052	10593488	2043	85824											
DLK1	8788	broad.mit.edu	37	chr14	101193447	101193447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgtcctcttgctcctGctggctttcggccacagcac	10	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:101193447G>A	uc001yhs.3	+	1	195	c.42G>A	c.(40-42)CTG>CTA	p.L14L	DLK1_uc001yhu.3_Silent_p.L14L	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	14					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				TCTTGCTCCTGCTGGCTTTCG	0.657													A	101193447	G	A	101193447	2	1	158	1	0	0	0	0	0	0	0	1	4564	1306	46	2		2	DLK1	14	101193447	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4437395	101193447	6156093	2044	85825											
XRCC3	7517	broad.mit.edu	37	chr14	104174899	104174899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagtgtaaggaggccgtTctcagcaagtgccagacctc	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:104174899T>C	uc001yny.3	-	5	533	c.153A>G	c.(151-153)AGA>AGG	p.R51R	XRCC3_uc001ynx.3_Silent_p.R51R|XRCC3_uc001ynz.3_Silent_p.R51R|XRCC3_uc001yoa.3_Silent_p.R51R|XRCC3_uc001yob.1_RNA	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	51					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGGAGGCCGTTCTCAGCAAGT	0.557								Direct_reversal_of_damage|Homologous_recombination					C	104174899	T	C	104174899	2	2	158	1	0	0	0	0	0	0	0	1	17451	1780	62	3		3	XRCC3	14	104174899	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2981452	104174899	3174641	2045	85826											
AHNAK2	113146	broad.mit.edu	37	chr14	105416436	105416436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccacgctgggcagagaCacctccacgtcgggggccat	12	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:105416436C>T	uc010axc.1	-	7	5472	c.5352G>A	c.(5350-5352)GTG>GTA	p.V1784V	AHNAK2_uc001ypx.2_Silent_p.V1684V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1784						nucleus				ovary(1)	1		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)			TGGGCAGAGACACCTCCACGT	0.662													T	105416436	C	T	105416436	2	4	158	1	0	0	0	0	0	0	0	1	415	465	17	4		4	AHNAK2	14	105416436	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1241537	105416436	1933104	2046	85827											
AHNAK2	113146	broad.mit.edu	37	chr14	105418901	105418901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacatccacctccatgcTgggcagagacacctcgccat	9	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:105418901T>C	uc010axc.1	-	7	3007	c.2887A>G	c.(2887-2889)AGC>GGC	p.S963G	AHNAK2_uc001ypx.2_Missense_Mutation_p.S863G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	963						nucleus				ovary(1)	1		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)			ACCTCCATGCTGGGCAGAGAC	0.637													C	105418901	T	C	105418901	3	2	158	1	0	0	0	0	1	0	0	0	415	1580	55	3	14504	3	AHNAK2	14	105418901	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2465	105418901	1930639	2047	85828											
CRIP1	1396	broad.mit.edu	37	chr14	105954714	105954714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctacgcagccatgtTtgggcctaaaggtatgctcc	10	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:105954714T>C	uc001yri.3	+	4	296	c.182T>C	c.(181-183)TTT>TCT	p.F61S	C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank|C14orf80_uc001yrn.2_5'Flank|C14orf80_uc001yro.2_5'Flank|C14orf80_uc001yrm.2_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	61	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCAGCCATGTTTGGGCCTAAA	0.537													C	105954714	T	C	105954714	3	2	158	1	0	0	0	0	1	0	0	0	3874	1841	64	3	192	3	CRIP1	14	105954714	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	535813	105954714	1394826	2048	85829											
OR4M2	390538	broad.mit.edu	37	chr15	22369024	22369025	+	Frame_Shift_Ins	INS	-	-	G													ctggtggctctctcctggagINSggggggcttcattcattcta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:22369023_22369024A>AG	uc010tzu.2	+	0	546_547	c.448_449A>AG	c.(448-450)aggfs	p.R150fs	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(4)|p.R150W(2)		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)		TCTCTCCTGGAGGGGGGGCTTC	0.5													G	22369025	-	G	22369024	7	5	158	1	0	1	1	0	0	0	0	0	11076	1000	35	0	451	0	OR4M2	15	22369024	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08		22369024	80162368	2049	85830											
MAGEL2	54551	broad.mit.edu	37	chr15	23890497	23890497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaggcattcagagaggcaGgctgaaactgggaggtagct	15	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:23890497G>T	uc001ywj.3	-	1	679	c.584C>A	c.(583-585)CCT>CAT	p.P195H		NM_019066	NP_061939			MAGE-like protein 2												0		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)		CAGAGAGGCAGGCTGAAACTG	0.587													T	23890497	G	T	23890497	3	4	158	1	0	0	0	0	1	0	0	0	9189	1000	35	5	1360	5	MAGEL2	15	23890497	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1521473	23890497	78640895	2050	85831											
C15orf2	23742	broad.mit.edu	37	chr15	24921102	24921102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccccgctcccctgtccCgggacgcctccccgcccggt	11	24	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:24921102C>T	uc001ywo.2	+	1	562	c.88C>T	c.(88-90)CGG>TGG	p.R30W		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	30					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCCCTGTCCCGGGACGCCTC	0.706													T	24921102	C	T	24921102	3	4	158	1	0	0	0	0	1	0	0	0	1784	643	23	1	90	1	C15orf2	15	24921102	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1030605	24921102	77610290	2051	85832											
C15orf2	23742	broad.mit.edu	37	chr15	24922701	24922701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacaacaaacgcatctGcccacctaacctcacagact	4	17	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:24922701G>A	uc001ywo.2	+	1	2161	c.1687G>A	c.(1687-1689)GCC>ACC	p.A563T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	563					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAACGCATCTGCCCACCTAAC	0.488													A	24922701	G	A	24922701	3	1	158	1	0	0	0	0	1	0	0	0	1784	1319	46	2	1689	2	C15orf2	15	24922701	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1599	24922701	77608691	2052	85833											
C15orf2	23742	broad.mit.edu	37	chr15	24923732	24923732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacttggggccactgatggGcagcagaagtctgacagttc	13	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:24923732G>A	uc001ywo.2	+	1	3192	c.2718G>A	c.(2716-2718)GGG>GGA	p.G906G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	906					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCACTGATGGGCAGCAGAAGT	0.502													A	24923732	G	A	24923732	2	1	158	1	0	0	0	0	0	0	0	1	1784	1190	42	2		2	C15orf2	15	24923732	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1031	24923732	77607660	2053	85834											
ATP10A	57194	broad.mit.edu	37	chr15	25925976	25925976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggttttggtttcaatgCccaggtggagcaggaaagtg	14	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:25925976C>T	uc010ayu.2	-	19	3765	c.3659G>A	c.(3658-3660)GGC>GAC	p.G1220D		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1220	Helical; (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		GGTTTCAATGCCCAGGTGGAG	0.557													T	25925976	C	T	25925976	3	4	158	1	0	0	0	0	1	0	0	0	1116	739	26	2	852	2	ATP10A	15	25925976	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1002244	25925976	76605416	2054	85835											
GABRG3	2567	broad.mit.edu	37	chr15	27571974	27571974	+	Frame_Shift_Del	DEL	T	T	-													aggaataccaaattgacataTtttttgctcagacctggaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:27571973_27571973AT>A	uc001zbg.2	+	3	542	c.288_288AT>A	c.(286-288)atafs	p.I96fs	GABRG3_uc001zbf.3_Frame_Shift_Del_p.I96fs	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	96					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)		AAATTGACATATTTTTTGCTC	0.388													-	27571974	T	-	27571974	7	5	158	1	0	1	0	1	0	0	0	0	6173	1493	52	0	303	0	GABRG3	15	27571974	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1645998	27571974	74959418	2055	85836											
HERC2	8924	broad.mit.edu	37	chr15	28389353	28389353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatggacaggagaggacGcagcggtcagagaggagttc	18	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:28389353G>A	uc001zbj.2	-	73	11275	c.11169C>T	c.(11167-11169)TGC>TGT	p.C3723C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3723					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		AGGAGAGGACGCAGCGGTCAG	0.547													A	28389353	G	A	28389353	2	1	158	1	0	0	0	0	0	0	0	1	7058	1079	38	1		1	HERC2	15	28389353	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	817379	28389353	74142039	2056	85837											
HERC2	8924	broad.mit.edu	37	chr15	28408275	28408275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatgccggaaagcaccgCggagagcacatccctgcccc	10	19	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:28408275C>T	uc001zbj.2	-	69	10817	c.10711G>A	c.(10711-10713)GCG>ACG	p.A3571T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		GAAAGCACCGCGGAGAGCACA	0.652													T	28408275	C	T	28408275	3	4	158	1	0	0	0	0	1	0	0	0	7058	768	27	1	3893	1	HERC2	15	28408275	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	18922	28408275	74123117	2057	85838											
HERC2	8924	broad.mit.edu	37	chr15	28501287	28501287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgctcctccgcggtgggCagcagcacggaccagccact	13	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:28501287C>T	uc001zbj.2	-	18	2800	c.2694G>A	c.(2692-2694)CTG>CTA	p.L898L	HERC2_uc001zbl.1_Silent_p.L593L	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	898					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CCGCGGTGGGCAGCAGCACGG	0.706													T	28501287	C	T	28501287	2	4	158	1	0	0	0	0	0	0	0	1	7058	697	25	2		2	HERC2	15	28501287	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	93012	28501287	74030105	2058	85839											
TJP1	7082	broad.mit.edu	37	chr15	29997794	29997794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccttgaaatagatttccTgctcaactccttcgggaatg	8	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:29997794T>C	uc001zcr.2	-	26	5481	c.5006A>G	c.(5005-5007)CAG>CGG	p.Q1669R	TJP1_uc010azl.2_Missense_Mutation_p.Q1657R|TJP1_uc001zcq.2_Missense_Mutation_p.Q1593R|TJP1_uc001zcs.2_Missense_Mutation_p.Q1589R	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1669	ZU5.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		ATAGATTTCCTGCTCAACTCC	0.423													C	29997794	T	C	29997794	3	2	158	1	0	0	0	0	1	0	0	0	15926	1580	55	3	252	3	TJP1	15	29997794	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1496507	29997794	72533598	2059	85840											
MTMR15	22909	broad.mit.edu	37	chr15	31206262	31206262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaccatcaatcggaaaacCcacatcttccaagacagaga	5	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:31206262C>T	uc001zff.2	+	5	2070	c.1779C>T	c.(1777-1779)ACC>ACT	p.T593T	MTMR15_uc001zfe.2_Silent_p.T198T	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	593					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		ATCGGAAAACCCACATCTTCC	0.413								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	31206262	C	T	31206262	2	4	158	1	0	0	0	0	0	0	0	1	9943	610	22	4		4	MTMR15	15	31206262	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1208468	31206262	71325130	2060	85841											
MTMR10	54893	broad.mit.edu	37	chr15	31239334	31239334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagggttgcttaccGtgctttgcttcactcgctgg	11	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:31239334G>A	uc001zfh.1	-	14	1645	c.1547C>T	c.(1546-1548)ACG>ATG	p.T516M	MTMR10_uc010ubk.1_Translation_Start_Site|MTMR10_uc001zfg.1_Missense_Mutation_p.T97M|MTMR10_uc010azx.1_Missense_Mutation_p.T268M|MTMR10_uc001zfi.1_Missense_Mutation_p.T268M|MTMR10_uc001zfj.2_Missense_Mutation_p.T434M|MTMR10_uc001zfk.2_Missense_Mutation_p.T268M	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	516	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		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)		GTTGCTTACCGTGCTTTGCTT	0.453													A	31239334	G	A	31239334	3	1	158	1	0	0	0	0	1	0	0	0	9939	1159	40	1	798	1	MTMR10	15	31239334	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	33072	31239334	71292058	2061	85842											
CHRNA7	1139	broad.mit.edu	37	chr15	32460211	32460211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggggaggacaaggtgcGcccggcctgccagcacaagc	16	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:32460211G>A	uc001zft.2	+	10	1133	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R173H|CHRNA7_uc010bak.2_Missense_Mutation_p.R269H	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	354	Cytoplasmic (Potential).				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			ovary(1)	1		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)	GACAAGGTGCGCCCGGCCTGC	0.652													A	32460211	G	A	32460211	3	1	158	1	0	0	0	0	1	0	0	0	3388	1087	38	1	1099	1	CHRNA7	15	32460211	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1220877	32460211	70071181	2062	85843											
RYR3	6263	broad.mit.edu	37	chr15	33938573	33938573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaggattgatggcaccAtggacagccctccgtgtctc	11	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:33938573A>G	uc001zhi.2	+	29	3857	c.3787A>G	c.(3787-3789)ATG>GTG	p.M1263V	RYR3_uc010bar.2_Missense_Mutation_p.M1263V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1263	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TGATGGCACCATGGACAGCCC	0.522													G	33938573	A	G	33938573	3	3	158	1	0	0	0	0	1	0	0	0	13770	217	8	3	3901	3	RYR3	15	33938573	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1478362	33938573	68592819	2063	85844											
RYR3	6263	broad.mit.edu	37	chr15	34014936	34014936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagagtgtggaagaaaacGccagcgttgtggtcaagctg	16	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:34014936G>A	uc001zhi.2	+	44	6710	c.6640G>A	c.(6640-6642)GCC>ACC	p.A2214T	RYR3_uc010bar.2_Missense_Mutation_p.A2214T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2214	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GGAAGAAAACGCCAGCGTTGT	0.562													A	34014936	G	A	34014936	3	1	158	1	0	0	0	0	1	0	0	0	13770	1087	38	1	6814	1	RYR3	15	34014936	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	76363	34014936	68516456	2064	85845											
SLC12A6	9990	broad.mit.edu	37	chr15	34528946	34528946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggatagccgcatgtgcCggagcatctgggacctttgt	13	9	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:34528946C>T	uc001zhw.2	-	22	3169	c.3005G>A	c.(3004-3006)CGG>CAG	p.R1002Q	SLC12A6_uc001zhv.2_Missense_Mutation_p.R951Q|SLC12A6_uc001zhx.2_Missense_Mutation_p.R987Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R943Q|SLC12A6_uc001zib.2_Missense_Mutation_p.R993Q|SLC12A6_uc001zic.2_Missense_Mutation_p.R1002Q|SLC12A6_uc010bau.2_Missense_Mutation_p.R1002Q|SLC12A6_uc001zid.2_Missense_Mutation_p.R943Q|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.R814Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	1002	Cytoplasmic (Potential).				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)|ovary(1)|skin(1)	7		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)	CCGCATGTGCCGGAGCATCTG	0.458													T	34528946	C	T	34528946	3	4	158	1	0	0	0	0	1	0	0	0	14387	652	23	1	463	1	SLC12A6	15	34528946	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	514010	34528946	68002446	2065	85846											
AQR	9716	broad.mit.edu	37	chr15	35210478	35210478	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccagaatagtactcAgttgggacaatattttcatc	6	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35210478A>G	uc001ziv.2	-	15	1504	c.1323T>C	c.(1321-1323)ACT>ACC	p.T441T		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	441						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		AATAGTACTCAGTTGGGACAA	0.353													G	35210478	A	G	35210478	2	3	158	1	0	0	0	0	0	0	0	1	835	175	7	3		3	AQR	15	35210478	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	681532	35210478	67320914	2066	85847											
AQR	9716	broad.mit.edu	37	chr15	35224524	35224524	+	Frame_Shift_Del	DEL	A	A	-													tacatcaatattcacctgggAaaaaagatggccatcctctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35224523_35224523GA>G	uc001ziv.3	-	10	1077	c.896_896TC>C	c.(895-897)tccfs	p.S299fs		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	299						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)		ATTCACCTGGGAAAAAAGATG	0.398													-	35224524	A	-	35224524	7	5	158	1	0	1	0	1	0	0	0	0	835	246	9	0	3662	0	AQR	15	35224524	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	14046	35224524	67306868	2067	85848											
AQR	9716	broad.mit.edu	37	chr15	35240588	35240588	+	Splice_Site	DEL	G	G	-													taattttcaagatactggctGtaaagagtaaaaagcataga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35240587_35240587TG>T	uc001ziv.3	-	5	391	c.210_splice	c.e5-1	p.S70_splice		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	70						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)		AGATACTGGCTGTAAAGAGTA	0.333													-	35240588	G	-	35240588	8	5	158	1	0	1	0	1	0	0	1	0	835	1392	48	0		0	AQR	15	35240588	Splice_Site	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	16064	35240588	67290804	2068	85849											
ZNF770	54989	broad.mit.edu	37	chr15	35274383	35274384	+	Frame_Shift_Ins	INS	-	-	T													cgtaaggatgcctttcaaatINStttttcccatattttgccaa					rs148617355		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35274382_35274383A>AT	uc001ziw.3	-	2	1607_1608	c.1253_1254T>AT	c.(1252-1254)aatfs	p.N418fs	ZNF770_uc021siy.1_Frame_Shift_Ins_p.N418fs	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	418					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)		TGCCTTTCAAATTTTTTCCCAT	0.332													T	35274384	-	T	35274383	7	5	158	1	0	1	1	0	0	0	0	0	18140	1493	52	0	826	0	ZNF770	15	35274383	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	33795	35274383	67257009	2069	85850											
MEIS2	4212	broad.mit.edu	37	chr15	37390309	37390309	+	Frame_Shift_Del	DEL	G	G	-													cgtggttcaggtggtgaaccGgggggatcggccgcggcgcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:37390308_37390308CG>C	uc001zjr.3	-	1	1179	c.105_105CG>G	c.(103-105)ccgfs	p.P35fs	MEIS2_uc001zjl.3_Frame_Shift_Del_p.P22fs|MEIS2_uc010ucj.2_Frame_Shift_Del_p.P22fs|MEIS2_uc001zjm.3_5'UTR|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Frame_Shift_Del_p.P35fs|MEIS2_uc001zjp.3_Frame_Shift_Del_p.P35fs|MEIS2_uc001zjs.3_Frame_Shift_Del_p.P35fs|MEIS2_uc001zju.3_Frame_Shift_Del_p.P22fs|MEIS2_uc001zjt.3_Frame_Shift_Del_p.P35fs	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	35					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)		GGTGGTGAACCGGGGGGATCG	0.677													-	37390309	G	-	37390309	7	5	158	1	0	1	0	1	0	0	0	0	9468	1116	39	0	1436	0	MEIS2	15	37390309	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	2115926	37390309	65141083	2070	85851											
RASGRP1	10125	broad.mit.edu	37	chr15	38811574	38811574	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaagcatccttataggTagggctgtggttaagggaaa	13	6	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:38811574T>C	uc001zke.3	-	4	505	c.327_splice	c.e4-1	p.L109_splice	RASGRP1_uc010bbe.2_Splice_Site|RASGRP1_uc010bbf.2_Splice_Site|RASGRP1_uc010bbg.2_Splice_Site|RASGRP1_uc001zkd.3_Splice_Site_p.L109_splice	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a						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			large_intestine(1)|ovary(1)	2		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)		TCCTTATAGGTAGGGCTGTGG	0.373													C	38811574	T	C	38811574	5	2	158	1	0	0	0	0	0	0	1	0	13074	1652	57	3	2124	3	RASGRP1	15	38811574	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1421265	38811574	63719818	2071	85852											
FSIP1	161835	broad.mit.edu	37	chr15	40030381	40030381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcaaccataaccactgGgtttcttgattccttggcca	7	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40030381G>T	uc001zki.2	-	8	1020	c.802C>A	c.(802-804)CCA>ACA	p.P268T		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	268										ovary(2)|skin(1)	3		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)		ATAACCACTGGGTTTCTTGAT	0.388													T	40030381	G	T	40030381	3	4	158	1	0	0	0	0	1	0	0	0	6074	1232	43	5	963	5	FSIP1	15	40030381	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1218807	40030381	62501011	2072	85853											
BMF	90427	broad.mit.edu	37	chr15	40396520	40396520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaaactggcagggagaGgaagccgatagccagcattg	16	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40396520G>T	uc001zkv.2	-	3	400	c.314C>A	c.(313-315)CCT>CAT	p.P105H	BMF_uc001zkt.2_Missense_Mutation_p.P105H|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Missense_Mutation_p.P105H	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	105					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			ovary(1)	1		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)		GGCAGGGAGAGGAAGCCGATA	0.572													T	40396520	G	T	40396520	3	4	158	1	0	0	0	0	1	0	0	0	1454	1000	35	5	248	5	BMF	15	40396520	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	366139	40396520	62134872	2073	85854											
PLCB2	5330	broad.mit.edu	37	chr15	40581489	40581489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgcttttccatctccCgtatctgttccaggcaagcc	6	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40581489C>T	uc001zld.2	-	31	3639	c.3338G>A	c.(3337-3339)CGG>CAG	p.R1113Q	PLCB2_uc001zlc.2_Missense_Mutation_p.R97Q|PLCB2_uc010bbo.2_Missense_Mutation_p.R1109Q|PLCB2_uc010ucm.1_Missense_Mutation_p.R1098Q	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1113	Potential.				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			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		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)		TTCCATCTCCCGTATCTGTTC	0.582													T	40581489	C	T	40581489	3	4	158	1	0	0	0	0	1	0	0	0	12028	652	23	1	227	1	PLCB2	15	40581489	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	184969	40581489	61949903	2074	85855											
C15orf52	388115	broad.mit.edu	37	chr15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-													gctggtgtggtcacagccatCcccccctgctctgcctgccg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40631781_40631781TC>T	uc001zlh.4	-	2	311	c.295_295GA>A	c.(295-297)atgfs	p.M99fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	99								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGC	0.647													-	40631782	C	-	40631782	7	5	158	1	0	1	0	1	0	0	0	0	1800	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	50293	40631782	61899610	2075	85856											
DISP2	85455	broad.mit.edu	37	chr15	40656439	40656439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaggcaggaacgagcCttccagatgccaaagaggta	11	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40656439C>A	uc001zlk.1	+	3	551	c.462C>A	c.(460-462)GCC>GCA	p.A154A		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	154					smoothened signaling pathway	integral to membrane				ovary(2)	2		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)		AGGAACGAGCCTTCCAGATGC	0.597													A	40656439	C	A	40656439	2	1	158	1	0	0	0	0	0	0	0	1	4540	668	24	5		5	DISP2	15	40656439	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	24657	40656439	61874953	2076	85857											
FAM82A2	55177	broad.mit.edu	37	chr15	41043668	41043668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtggctcccgaggaggcCgtgaagtagacagagctgga	16	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41043668C>T	uc001zmo.1	-	4	624	c.480G>A	c.(478-480)ACG>ACA	p.T160T	FAM82A2_uc001zmp.1_Silent_p.T160T|FAM82A2_uc001zmq.1_Silent_p.T160T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	160					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						CCGAGGAGGCCGTGAAGTAGA	0.557													T	41043668	C	T	41043668	2	4	158	1	0	0	0	0	0	0	0	1	5631	639	23	1		1	FAM82A2	15	41043668	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	387229	41043668	61487724	2077	85858											
ZFYVE19	84936	broad.mit.edu	37	chr15	41105094	41105095	+	Frame_Shift_Del	DEL	GA	GA	-													tgctgcggggacaggaccccGagagaggtgaaggctgggga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41105093_41105094CGA>C	uc001zmt.1	+	6	1537_1538	c.1023_1024CGA>C	c.(1021-1026)cccgagfs	p.P341fs	ZFYVE19_uc001zmu.1_Intron|ZFYVE19_uc001zmv.1_Frame_Shift_Del_p.P166fs	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	341							zinc ion binding	p.P341P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GACAGGACCCCGAGAGAGGTGA	0.634													-	41105095	GA	-	41105094	7	5	158	1	0	1	0	1	0	0	0	0	17662	1059	37	0	1050	0	ZFYVE19	15	41105094	Frame_Shift_Del	DEL	GA	TCGA-CD-A4MG-01A-11D-A25D-08	61426	41105094	61426298	2078	85859											
RHOV	171177	broad.mit.edu	37	chr15	41165524	41165524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttagtacgttgacatcgtccCtcaggtcggcctgggtgccc	12	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41165524C>A	uc001znd.2	-	3	593	c.443G>T	c.(442-444)AGG>ATG	p.R148M		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	ras homolog gene family, member V	148					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding				0		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)		GACATCGTCCCTCAGGTCGGC	0.652													A	41165524	C	A	41165524	3	1	158	1	0	0	0	0	1	0	0	0	13346	681	24	5	271	5	RHOV	15	41165524	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	60430	41165524	61365868	2079	85860											
VPS18	57617	broad.mit.edu	37	chr15	41192775	41192775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggccctggccgtgctcGcccgccaccgtgacccccag	13	19	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41192775G>A	uc001zne.2	+	4	2098	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	587					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		GGCCGTGCTCGCCCGCCACCG	0.597													A	41192775	G	A	41192775	3	1	158	1	0	0	0	0	1	0	0	0	17191	1087	38	1	1773	1	VPS18	15	41192775	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	27251	41192775	61338617	2080	85861											
CHAC1	79094	broad.mit.edu	37	chr15	41245901	41245901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattttcgggtacggctcCctggtgtggaggcccgactt	15	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41245901C>T	uc001znh.2	+	1	266	c.246C>T	c.(244-246)TCC>TCT	p.S82S	CHAC1_uc010uct.1_Silent_p.S82S	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	82					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		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)		GGTACGGCTCCCTGGTGTGGA	0.677													T	41245901	C	T	41245901	2	4	158	1	0	0	0	0	0	0	0	1	3308	610	22	4		4	CHAC1	15	41245901	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	53126	41245901	61285491	2081	85862											
NUSAP1	51203	broad.mit.edu	37	chr15	41650447	41650447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacacaattccatgaaTgaactgaaggtatgtagata	9	5	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41650447T>C	uc001zns.3	+	6	881	c.651T>C	c.(649-651)AAT>AAC	p.N217N	NUSAP1_uc001znq.3_Silent_p.N22N|NUSAP1_uc001znr.3_Silent_p.N217N|NUSAP1_uc010bce.2_Silent_p.N217N|NUSAP1_uc001znt.3_Silent_p.N202N|NUSAP1_uc001znv.3_Silent_p.N216N|NUSAP1_uc001znu.3_Silent_p.N216N|NUSAP1_uc010ucw.1_Silent_p.N194N|NUSAP1_uc001znw.3_Silent_p.N22N	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	217					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		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)		ATTCCATGAATGAACTGAAGG	0.299													C	41650447	T	C	41650447	2	2	158	1	0	0	0	0	0	0	0	1	10778	1461	51	3		3	NUSAP1	15	41650447	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	404546	41650447	60880945	2082	85863											
ITPKA	3706	broad.mit.edu	37	chr15	41795299	41795299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgggaggagggcaaccgcGaggacggctatttgctgggg	19	9	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41795299G>A	uc001znz.2	+	7	1332	c.1321G>A	c.(1321-1323)GAG>AAG	p.E441K		NM_002220	NP_002211	P23677	IP3KA_HUMAN	1D-myo-inositol-trisphosphate 3-kinase A	441					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0		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;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGGCAACCGCGAGGACGGCTA	0.677													A	41795299	G	A	41795299	3	1	158	1	0	0	0	0	1	0	0	0	7917	1059	37	1	1347	1	ITPKA	15	41795299	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	144852	41795299	60736093	2083	85864											
RPAP1	26015	broad.mit.edu	37	chr15	41813935	41813935	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccaaccaagcacttaCgggaggaactccagccggaa	10	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41813935C>T	uc001zod.2	-	21	3162	c.3038_splice	c.e21+1	p.P1013_splice	RPAP1_uc001zoc.2_Splice_Site_p.P32_splice	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1							nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAAGCACTTACGGGAGGAACT	0.423													T	41813935	C	T	41813935	5	4	158	1	0	0	0	0	0	0	1	0	13541	550	19	1	1162	1	RPAP1	15	41813935	Splice_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	18636	41813935	60717457	2084	85865											
RPAP1	26015	broad.mit.edu	37	chr15	41819247	41819247	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaactatagtctctatcAgccgagggcactccaggacc	9	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41819247A>G	uc001zod.2	-	14	1890	c.1766T>C	c.(1765-1767)CTG>CCG	p.L589P		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	589						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGTCTCTATCAGCCGAGGGCA	0.557													G	41819247	A	G	41819247	3	3	158	1	0	0	0	0	1	0	0	0	13541	188	7	3	2463	3	RPAP1	15	41819247	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5312	41819247	60712145	2085	85866											
TYRO3	7301	broad.mit.edu	37	chr15	41859581	41859581	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggccccaggaggctgGgaagtcctggctgttgtggt	16	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41859581G>A	uc001zof.1	+	7	1031	c.807G>A	c.(805-807)TGG>TGA	p.W269*		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	269	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		CAGGAGGCTGGGAAGTCCTGG	0.572													A	41859581	G	A	41859581	4	1	158	1	0	0	0	0	0	1	0	0	16811	1241	43	4	833	4	TYRO3	15	41859581	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	40334	41859581	60671811	2086	85867											
MGA	23269	broad.mit.edu	37	chr15	42058413	42058413	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaacagagatggcagagtGacgttgggtccaacgcaggt	16	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42058413G>A	uc010ucy.1	+	24	8314	c.8133G>A	c.(8131-8133)GTG>GTA	p.V2711V	MGA_uc010ucz.1_Silent_p.V2502V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2672						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		ATGGCAGAGTGACGTTGGGTC	0.433													A	42058413	G	A	42058413	2	1	158	1	0	0	0	0	0	0	0	1	9540	1277	45	4		4	MGA	15	42058413	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	198832	42058413	60472979	2087	85868											
SPTBN5	51332	broad.mit.edu	37	chr15	42144453	42144453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctccactgaaaggatgtcAgcgagctgccagctctcccg	11	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42144453A>G	uc001zos.2	-	62	10739	c.10406T>C	c.(10405-10407)CTG>CCG	p.L3469P		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3504					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		AAAGGATGTCAGCGAGCTGCC	0.647													G	42144453	A	G	42144453	3	3	158	1	0	0	0	0	1	0	0	0	15121	188	7	3	541	3	SPTBN5	15	42144453	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	86040	42144453	60386939	2088	85869											
SPTBN5	51332	broad.mit.edu	37	chr15	42147121	42147121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggcatacaccttggcCtggcccaggctctgcacttc	10	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42147121C>A	uc001zos.2	-	56	9705	c.9372G>T	c.(9370-9372)CAG>CAT	p.Q3124H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3159	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		ACACCTTGGCCTGGCCCAGGC	0.582													A	42147121	C	A	42147121	3	1	158	1	0	0	0	0	1	0	0	0	15121	680	24	5	1599	5	SPTBN5	15	42147121	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2668	42147121	60384271	2089	85870											
SPTBN5	51332	broad.mit.edu	37	chr15	42158575	42158575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgacctcctcatgggcCtggacttcagcctcaaaggc	10	14	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42158575C>A	uc001zos.2	-	37	6825	c.6492G>T	c.(6490-6492)CAG>CAT	p.Q2164H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2199	Spectrin 18.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		CCTCATGGGCCTGGACTTCAG	0.617													A	42158575	C	A	42158575	3	1	158	1	0	0	0	0	1	0	0	0	15121	680	24	5	4555	5	SPTBN5	15	42158575	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	11454	42158575	60372817	2090	85871											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364557	42364557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgaccccgttccagggCggctctctgtcctgacagct	11	15	2	2	rs148579768		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42364557C>T	uc001zox.2	-	14	1446	c.1351G>A	c.(1351-1353)GCC>ACC	p.A451T		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	451	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		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)		CGTTCCAGGGCGGCTCTCTGT	0.582													T	42364557	C	T	42364557	3	4	158	1	0	0	0	0	1	0	0	0	12004	768	27	1	1133	1	PLA2G4D	15	42364557	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	205982	42364557	60166835	2091	85872											
ZFP106	64397	broad.mit.edu	37	chr15	42743622	42743622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcttgttccatagcataGtcatgtcttccatttgacag	6	9	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42743622G>A	uc001zpw.2	-	2	1114	c.779C>T	c.(778-780)ACT>ATT	p.T260I	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.T43I|ZFP106_uc001zpy.1_Missense_Mutation_p.T283I	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	260						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CCATAGCATAGTCATGTCTTC	0.383													A	42743622	G	A	42743622	3	1	158	1	0	0	0	0	1	0	0	0	17634	1029	36	4	4944	4	ZFP106	15	42743622	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	379065	42743622	59787770	2092	85873											
LCMT2	9836	broad.mit.edu	37	chr15	43621423	43621423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactctctgagagtcttgtcAtggtgtgataaaggcgtcca	12	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:43621423A>G	uc001zrg.2	-	1	1469	c.1265T>C	c.(1264-1266)ATG>ACG	p.M422T	LCMT2_uc010udn.1_Missense_Mutation_p.M1T|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	422					tRNA processing		methyltransferase activity|protein binding				0		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)	GAGTCTTGTCATGGTGTGATA	0.498													G	43621423	A	G	43621423	3	3	158	1	0	0	0	0	1	0	0	0	8679	217	8	3	799	3	LCMT2	15	43621423	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	877801	43621423	58909969	2093	85874											
MAP1A	4130	broad.mit.edu	37	chr15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-													ccaactgaaaccagccctaaCcccccaggccctgccccagc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:43820774_43820774AC>A	uc001zrt.3	+	3	7570	c.7103_7103AC>A	c.(7102-7104)aacfs	p.N2368fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2368						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)	ACCAGCCCTAACCCCCCAGGC	0.637													-	43820775	C	-	43820775	7	5	158	1	0	1	0	1	0	0	0	0	9227	506	18	0	7106	0	MAP1A	15	43820775	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	199352	43820775	58710617	2094	85875											
FRMD5	84978	broad.mit.edu	37	chr15	44166387	44166387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagggcctccacctctGtagcagttggggtgctggct	13	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:44166387G>A	uc001ztl.2	-	14	1586	c.1409C>T	c.(1408-1410)ACA>ATA	p.T470I	FRMD5_uc001ztj.1_Missense_Mutation_p.T143I|FRMD5_uc001ztk.1_Missense_Mutation_p.T376I|FRMD5_uc010uef.1_Missense_Mutation_p.T143I|FRMD5_uc001ztm.2_Missense_Mutation_p.T143I|FRMD5_uc001ztn.2_Missense_Mutation_p.T236I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	470						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		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)		CTCCACCTCTGTAGCAGTTGG	0.587													A	44166387	G	A	44166387	3	1	158	1	0	0	0	0	1	0	0	0	6053	1377	48	4	307	4	FRMD5	15	44166387	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	345612	44166387	58365005	2095	85876											
SPG11	80208	broad.mit.edu	37	chr15	44944338	44944338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttctgtacctatcaatttgGaaggaaaacttggccagttt	8	7	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:44944338G>T	uc001ztx.2	-	5	1027	c.996C>A	c.(994-996)TTC>TTA	p.F332L	SPG11_uc010ueh.1_Missense_Mutation_p.F332L|SPG11_uc010uei.1_Missense_Mutation_p.F332L|SPG11_uc001zua.1_Missense_Mutation_p.F332L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	332	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		TATCAATTTGGAAGGAAAACT	0.353													T	44944338	G	T	44944338	3	4	158	1	0	0	0	0	1	0	0	0	15040	1165	41	5	6479	5	SPG11	15	44944338	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	777951	44944338	57587054	2096	85877											
SLC12A1	6557	broad.mit.edu	37	chr15	48499975	48499975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcccagtaataccaatcGctttcaagttagtgtcataa	7	9	2	0	rs34661166	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:48499975G>A	uc001zwn.3	+	2	275	c.59G>A	c.(58-60)CGC>CAC	p.R20H	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.R20H|SLC12A1_uc010uex.1_Missense_Mutation_p.R20H	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	20	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		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)	AATACCAATCGCTTTCAAGTT	0.393													A	48499975	G	A	48499975	3	1	158	1	0	0	0	0	1	0	0	0	14382	1087	38	1	61	1	SLC12A1	15	48499975	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3555637	48499975	54031417	2097	85878											
FBN1	2200	broad.mit.edu	37	chr15	48797314	48797314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgcaacgcccattcatgCagatcccaggggtttcacac	9	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:48797314C>T	uc001zwx.1	-	16	2196	c.1868G>A	c.(1867-1869)TGC>TAC	p.C623Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	623	EGF-like 10; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCATTCATGCAGATCCCAGG	0.438													T	48797314	C	T	48797314	3	4	158	1	0	0	0	0	1	0	0	0	5702	710	25	2	6951	2	FBN1	15	48797314	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	297339	48797314	53734078	2098	85879											
CEP152	22995	broad.mit.edu	37	chr15	49033864	49033864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaattttgccattgtagCaagtttgctagcagcattca	8	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:49033864C>T	uc001zwy.2	-	25	3893	c.3859G>A	c.(3859-3861)GCT>ACT	p.A1287T	CEP152_uc001zwz.2_Missense_Mutation_p.A1343T|CEP152_uc001zxa.1_Missense_Mutation_p.A1250T	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1287					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCATTGTAGCAAGTTTGCTA	0.373													T	49033864	C	T	49033864	3	4	158	1	0	0	0	0	1	0	0	0	3248	710	25	2	1113	2	CEP152	15	49033864	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	236550	49033864	53497528	2099	85880											
SLC27A2	11001	broad.mit.edu	37	chr15	50494701	50494701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcttccaaaagcagccAtgatcactcatcagcgcata	7	12	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:50494701A>G	uc001zxw.2	+	3	938	c.706A>G	c.(706-708)ATG>GTG	p.M236V	SLC27A2_uc010bes.2_Intron|SLC27A2_uc001zxx.2_Missense_Mutation_p.M1V	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	236	Lumenal (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAAGCAGCCATGATCACTCA	0.428													G	50494701	A	G	50494701	3	3	158	1	0	0	0	0	1	0	0	0	14526	217	8	3	716	3	SLC27A2	15	50494701	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1460837	50494701	52036691	2100	85881											
TRPM7	54822	broad.mit.edu	37	chr15	50884195	50884195	+	Frame_Shift_Del	DEL	T	T	-													ggttccagtttccaagtggcTtttgcaacttggctgagatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:50884195delT	uc001zyt.3	-	26	4501	c.4237delA	c.(4237-4239)AGCfs	p.S1413fs	TRPM7_uc010bew.1_Frame_Shift_Del_p.S1413fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1413	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCAAGTGGCTTTTGCAACTT	0.373													-	50884195	T	-	50884195	7	5	158	1	0	1	0	1	0	0	0	0	16588	1609	56	0	1416	0	TRPM7	15	50884195	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	389494	50884195	51647197	2101	85882											
CYP19A1	1588	broad.mit.edu	37	chr15	51504602	51504602	+	Frame_Shift_Del	DEL	T	T	-													ttccaatattcaggataatgTttgtcccctttttcactggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:51504602delT	uc001zyz.3	-	10	1429	c.1178delA	c.(1177-1179)AACfs	p.N393fs	CYP19A1_uc001zza.3_Frame_Shift_Del_p.N393fs|CYP19A1_uc001zzb.2_Frame_Shift_Del_p.N393fs	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	393					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				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)	CAGGATAATGTTTGTCCCCTT	0.428													-	51504602	T	-	51504602	7	5	158	1	0	1	0	1	0	0	0	0	4148	1725	60	0	341	0	CYP19A1	15	51504602	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	620407	51504602	51026790	2102	85883											
MYO5A	4644	broad.mit.edu	37	chr15	52615583	52615583	+	Frame_Shift_Del	DEL	A	A	-													tgtactgtttcaagcagtgcAaaaatcggcatgtgttagag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:52615583delA	uc002aby.2	-	36	4938	c.4694delT	c.(4693-4695)TTGfs	p.L1565fs	MYO5A_uc002abx.3_Frame_Shift_Del_p.L1538fs|MYO5A_uc010ugd.1_Frame_Shift_Del_p.L287fs	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1565	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAAGCAGTGCAAAAATCGGCA	0.383													-	52615583	A	-	52615583	7	5	158	1	0	1	0	1	0	0	0	0	10078	131	5	0	897	0	MYO5A	15	52615583	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1110981	52615583	49915809	2103	85884											
TCF12	6938	broad.mit.edu	37	chr15	57574703	57574703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaagaaaaagtttctgCcgtatcggcagagccgccaa	12	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:57574703C>T	uc002aec.2	+	19	2251	c.1967C>T	c.(1966-1968)GCC>GTC	p.A656V	TCF12_uc010ugm.1_Intron|TCF12_uc010ugn.1_Missense_Mutation_p.A676V|TCF12_uc002aea.2_Missense_Mutation_p.A680V|TCF12_uc010bfs.2_Missense_Mutation_p.A77V|TCF12_uc002aeb.2_Missense_Mutation_p.A680V|TCF12_uc002aed.2_Missense_Mutation_p.A656V|TCF12_uc002aee.2_Missense_Mutation_p.A486V|TCF12_uc010bft.2_Missense_Mutation_p.A510V|TCF12_uc010ugo.1_Missense_Mutation_p.A420V|TCF12_uc010ugp.1_Missense_Mutation_p.A313V|TCF12_uc010ugq.1_Missense_Mutation_p.A290V	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	656					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			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AAAGTTTCTGCCGTATCGGCA	0.458			T	TEC	extraskeletal myxoid chondrosarcoma								T	57574703	C	T	57574703	3	4	158	1	0	0	0	0	1	0	0	0	15684	739	26	2	2186	2	TCF12	15	57574703	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4959120	57574703	44956689	2104	85885											
AQP9	366	broad.mit.edu	37	chr15	58465365	58465365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggagcccagttcttgggaGcctttgtgggggctgcaacc	16	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:58465365G>T	uc002aez.2	+	3	694	c.337G>T	c.(337-339)GCC>TCC	p.A113S	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.A48S	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	113	Helical; (Potential).				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			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		GTTCTTGGGAGCCTTTGTGGG	0.463													T	58465365	G	T	58465365	3	4	158	1	0	0	0	0	1	0	0	0	833	971	34	5	347	5	AQP9	15	58465365	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	890662	58465365	44066027	2105	85886											
GCNT3	9245	broad.mit.edu	37	chr15	59911535	59911535	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgccaggctggtcaagtgGcagggtcatgagggagacat	16	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:59911535G>A	uc002age.2	+	3	1547	c.1098G>A	c.(1096-1098)TGG>TGA	p.W366*	GCNT3_uc002agd.2_Nonsense_Mutation_p.W366*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	366	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						TGGTCAAGTGGCAGGGTCATG	0.567													A	59911535	G	A	59911535	4	1	158	1	0	0	0	0	0	1	0	0	6302	1212	42	2	1100	2	GCNT3	15	59911535	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1446170	59911535	42619857	2106	85887											
TLN2	83660	broad.mit.edu	37	chr15	63047787	63047787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccttgtgcaatgcctgCcgcatcgcctcatccaagac	8	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:63047787C>T	uc002alb.3	+	34	4533	c.4533C>T	c.(4531-4533)TGC>TGT	p.C1511C	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1511					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCAATGCCTGCCGCATCGCCT	0.577													T	63047787	C	T	63047787	2	4	158	1	0	0	0	0	0	0	0	1	15945	747	26	2		2	TLN2	15	63047787	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3136252	63047787	39483605	2107	85888											
SNX1	6642	broad.mit.edu	37	chr15	64424071	64424071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctcctgagtgactacattCgcctcctggccatagtccgc	9	15	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:64424071C>T	uc002amv.2	+	11	1237	c.1201C>T	c.(1201-1203)CGC>TGC	p.R401C	SNX1_uc010bgv.2_Missense_Mutation_p.R115C|SNX1_uc010uio.1_Missense_Mutation_p.R401C|SNX1_uc002amw.2_Missense_Mutation_p.R401C|SNX1_uc002amx.2_Missense_Mutation_p.R336C|SNX1_uc002amy.2_Missense_Mutation_p.R330C|SNX1_uc010bgw.2_Missense_Mutation_p.R303C	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	401	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						TGACTACATTCGCCTCCTGGC	0.498													T	64424071	C	T	64424071	3	4	158	1	0	0	0	0	1	0	0	0	14880	884	31	1	1243	1	SNX1	15	64424071	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1376284	64424071	38107321	2108	85889											
RASL12	51285	broad.mit.edu	37	chr15	65350892	65350892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctctggcggctgtcgaCgctgtacaccaccaggaagg	13	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65350892C>T	uc002aoi.1	-	4	513	c.298G>A	c.(298-300)GTC>ATC	p.V100I	RASL12_uc002aoj.1_Missense_Mutation_p.V81I|RASL12_uc010uir.1_Missense_Mutation_p.V89I	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	100					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						CGGCTGTCGACGCTGTACACC	0.652													T	65350892	C	T	65350892	3	4	158	1	0	0	0	0	1	0	0	0	13083	536	19	1	510	1	RASL12	15	65350892	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	926821	65350892	37180500	2109	85890											
KBTBD13	390594	broad.mit.edu	37	chr15	65369317	65369317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctgggcgttctgagcgCgggaggtttccgcgccacgc	17	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65369317C>T	uc010uis.1	+	1	164	c.164C>T	c.(163-165)GCG>GTG	p.A55V	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	hypothetical protein LOC390594	55	BTB.					cytoplasm					0						GTTCTGAGCGCGGGAGGTTTC	0.741													T	65369317	C	T	65369317	3	4	158	1	0	0	0	0	1	0	0	0	7992	768	27	1	166	1	KBTBD13	15	65369317	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	18425	65369317	37162075	2110	85891											
KBTBD13	390594	broad.mit.edu	37	chr15	65370228	65370228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctatgtggtgcgcaacGgaccttccgacgacttcctg	11	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65370228G>A	uc010uis.1	+	1	1075	c.1075G>A	c.(1075-1077)GGA>AGA	p.G359R	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	hypothetical protein LOC390594	359	Kelch 5.					cytoplasm					0						GGTGCGCAACGGACCTTCCGA	0.682													A	65370228	G	A	65370228	3	1	158	1	0	0	0	0	1	0	0	0	7992	1117	39	1	1077	1	KBTBD13	15	65370228	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	911	65370228	37161164	2111	85892											
PTPLAD1	51495	broad.mit.edu	37	chr15	65856652	65856652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaattggagtcactaCgtcaccggtgctgccttctc	10	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65856652C>T	uc002apc.2	+	7	780	c.632C>T	c.(631-633)ACG>ATG	p.T211M	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.T156M	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	211	Cytoplasmic (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						GGAGTCACTACGTCACCGGTG	0.433													T	65856652	C	T	65856652	3	4	158	1	0	0	0	0	1	0	0	0	12775	536	19	1	658	1	PTPLAD1	15	65856652	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	486424	65856652	36674740	2112	85893											
SLC24A1	9187	broad.mit.edu	37	chr15	65918027	65918027	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctctgctgtgttcaacattCtctttgtcattggcacttgt	8	10	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65918027C>A	uc010ujf.1	+	2	1896	c.1609C>A	c.(1609-1611)CTC>ATC	p.L537I	SLC24A1_uc010ujd.1_Missense_Mutation_p.L537I|SLC24A1_uc010uje.1_Missense_Mutation_p.L537I|SLC24A1_uc010ujg.1_Missense_Mutation_p.L537I|SLC24A1_uc010ujh.1_Missense_Mutation_p.L537I	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	537	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						GTTCAACATTCTCTTTGTCAT	0.517													A	65918027	C	A	65918027	3	1	158	1	0	0	0	0	1	0	0	0	14465	913	32	5		5	SLC24A1	15	65918027	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	61375	65918027	36613365	2113	85894											
DENND4A	10260	broad.mit.edu	37	chr15	65983682	65983682	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctattgagcataaatcccaTcagtacccctccactaagat	4	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65983682T>G	uc002aph.2	-	22	3496	c.3118A>C	c.(3118-3120)ATG>CTG	p.M1040L	DENND4A_uc002api.2_Missense_Mutation_p.M1083L|DENND4A_uc002apj.3_Missense_Mutation_p.M1040L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						ATAAATCCCATCAGTACCCCT	0.378													G	65983682	T	G	65983682	3	3	158	1	0	0	0	0	1	0	0	0	4433	1435	50	5	2517	5	DENND4A	15	65983682	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	65655	65983682	36547710	2114	85895											
DENND4A	10260	broad.mit.edu	37	chr15	65993442	65993442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttaaagctcttttgaacTgtgttactcctaaaacaaca	4	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65993442T>C	uc002aph.2	-	19	3026	c.2648A>G	c.(2647-2649)CAG>CGG	p.Q883R	DENND4A_uc002api.2_Missense_Mutation_p.Q883R|DENND4A_uc002apj.3_Missense_Mutation_p.Q883R	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TCTTTTGAACTGTGTTACTCC	0.348													C	65993442	T	C	65993442	3	2	158	1	0	0	0	0	1	0	0	0	4433	1580	55	3	3132	3	DENND4A	15	65993442	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	9760	65993442	36537950	2115	85896											
DIS3L	115752	broad.mit.edu	37	chr15	66587407	66587407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattatcttgagatccttgAgtttcctgagttgaagggaa	11	5	1	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:66587407A>G	uc010ujm.1	+	2	236	c.221A>G	c.(220-222)GAG>GGG	p.E74G	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Missense_Mutation_p.E74G|DIS3L_uc010bho.2_5'UTR	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	74					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						GAGATCCTTGAGTTTCCTGAG	0.383													G	66587407	A	G	66587407	3	3	158	1	0	0	0	0	1	0	0	0	4536	304	11	3	227	3	DIS3L	15	66587407	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	593965	66587407	35943985	2116	85897											
RPL4	6124	broad.mit.edu	37	chr15	66795088	66795088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcggcctccacgacacaTctatttttccagtcaagaat	5	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:66795088T>C	uc002apv.2	-	4	339	c.283A>G	c.(283-285)ATG>GTG	p.M95V	RPL4_uc010bhr.2_Missense_Mutation_p.M1V|RPL4_uc002apw.2_Missense_Mutation_p.M1V|RPL4_uc002apx.2_Missense_Mutation_p.M1V|RPL4_uc010ujq.1_Missense_Mutation_p.M95V|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CCACGACACATCTATTTTTCC	0.423													C	66795088	T	C	66795088	3	2	158	1	0	0	0	0	1	0	0	0	13595	1449	50	3	1028	3	RPL4	15	66795088	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	207681	66795088	35736304	2117	85898											
CLN6	54982	broad.mit.edu	37	chr15	68500514	68500514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgaagggtgtagaaagcCcagggctcagggacgtagat	16	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:68500514C>A	uc002arf.2	-	7	1058	c.900G>T	c.(898-900)TGG>TGT	p.W300C	CALML4_uc002arb.2_5'Flank|CALML4_uc002arc.2_5'Flank|CALML4_uc002ard.2_5'Flank|CALML4_uc002are.2_5'Flank|CALML4_uc010bhz.2_5'Flank|CLN6_uc010ujy.1_Missense_Mutation_p.W171C|CLN6_uc010ujz.1_Missense_Mutation_p.W332C	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	300			W -> R (in CLN6).		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				0						TGTAGAAAGCCCAGGGCTCAG	0.617													A	68500514	C	A	68500514	3	1	158	1	0	0	0	0	1	0	0	0	3545	624	22	5	39	5	CLN6	15	68500514	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1705426	68500514	34030878	2118	85899											
ITGA11	22801	broad.mit.edu	37	chr15	68599709	68599709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctgggatcctcctcacGgaagatgaaggggctgtgga	17	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:68599709G>A	uc002ari.2	-	28	3445	c.3358C>T	c.(3358-3360)CGT>TGT	p.R1120C	ITGA11_uc010bib.2_Missense_Mutation_p.R1121C	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1120	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	TCCTCCTCACGGAAGATGAAG	0.577											OREG0023219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	68599709	G	A	68599709	3	1	158	1	0	0	0	0	1	0	0	0	7874	1116	39	1	220	1	ITGA11	15	68599709	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	99195	68599709	33931683	2119	85900											
UACA	55075	broad.mit.edu	37	chr15	70976697	70976697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactatcatggccaagcgCatccagcaagcttatatcag	8	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:70976697C>T	uc002asr.2	-	8	795	c.691G>A	c.(691-693)GCG>ACG	p.A231T	UACA_uc010uke.1_Intron|UACA_uc002asq.2_Missense_Mutation_p.A218T|UACA_uc010bin.1_Missense_Mutation_p.A217T	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	231						cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TGGCCAAGCGCATCCAGCAAG	0.403													T	70976697	C	T	70976697	3	4	158	1	0	0	0	0	1	0	0	0	16821	710	25	2	3607	2	UACA	15	70976697	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2376988	70976697	31554695	2120	85901											
SENP8	123228	broad.mit.edu	37	chr15	72432223	72432223	+	Frame_Shift_Del	DEL	T	T	-													tccccaacaagagagttgtaTttttagccatcaatgataac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:72432223delT	uc002atp.2	+	2	358	c.259delT	c.(259-261)TTTfs	p.F87fs		NM_145204	NP_660205	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	87	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			ovary(1)|skin(1)	2						GAGAGTTGTATTTTTAGCCAT	0.448													-	72432223	T	-	72432223	7	5	158	1	0	1	0	1	0	0	0	0	14052	1493	52	0	261	0	SENP8	15	72432223	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1455526	72432223	30099169	2121	85902											
ADPGK	83440	broad.mit.edu	37	chr15	73048721	73048721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcatattcatggccccGttggagaggtcgtgagagaa	13	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:73048721G>A	uc002avg.3	-	5	805	c.711C>T	c.(709-711)AAC>AAT	p.N237N	ADPGK_uc002ave.3_Translation_Start_Site|ADPGK_uc010ukw.1_Silent_p.N179N|ADPGK_uc002avf.3_Silent_p.N237N|ADPGK_uc002avi.3_Silent_p.N115N|ADPGK_uc002avh.3_Translation_Start_Site	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	237	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding				0						TCATGGCCCCGTTGGAGAGGT	0.527													A	73048721	G	A	73048721	2	1	158	1	0	0	0	0	0	0	0	1	330	1136	40	1		1	ADPGK	15	73048721	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	616498	73048721	29482671	2122	85903											
NPTN	27020	broad.mit.edu	37	chr15	73884433	73884433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggtgacagggagaacaGggctgtctcgaataatgacc	15	8	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:73884433G>T	uc002avs.2	-	3	682	c.485C>A	c.(484-486)CCT>CAT	p.P162H	NPTN_uc010bjc.2_Missense_Mutation_p.P162H|NPTN_uc002avt.2_Missense_Mutation_p.P46H|NPTN_uc002avr.2_Missense_Mutation_p.P46H|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	162	Ig-like 2.|Extracellular (Potential).				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				0						AGGGAGAACAGGGCTGTCTCG	0.512													T	73884433	G	T	73884433	3	4	158	1	0	0	0	0	1	0	0	0	10601	1000	35	5	735	5	NPTN	15	73884433	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	835712	73884433	28646959	2123	85904											
CD276	80381	broad.mit.edu	37	chr15	73996289	73996289	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggcagcttcacctgcttCgtgagcatccgggatttcgg	14	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:73996289C>T	uc002avv.1	+	5	1257	c.1023C>T	c.(1021-1023)TTC>TTT	p.F341F	CD276_uc010bjd.1_Silent_p.F195F|CD276_uc002avu.1_Silent_p.F341F|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.F287F|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	341	Ig-like V-type 2.|Extracellular (Potential).				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			skin(1)	1						TCACCTGCTTCGTGAGCATCC	0.672													T	73996289	C	T	73996289	2	4	158	1	0	0	0	0	0	0	0	1	2992	883	31	1		1	CD276	15	73996289	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	111856	73996289	28535103	2124	85905											
ISLR2	57611	broad.mit.edu	37	chr15	74426790	74426790	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccgggtaccaactactcCgtgtgcctggcgctggcggg	16	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:74426790C>A	uc002axd.2	+	4	2464	c.1695C>A	c.(1693-1695)TCC>TCA	p.S565S	ISLR2_uc002axe.2_Silent_p.S565S|ISLR2_uc010bjg.2_Silent_p.S565S|ISLR2_uc010bjf.2_Silent_p.S565S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	565	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCAACTACTCCGTGTGCCTGG	0.657													A	74426790	C	A	74426790	2	1	158	1	0	0	0	0	0	0	0	1	7859	639	23	5		5	ISLR2	15	74426790	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	430501	74426790	28104602	2125	85906											
ISLR	3671	broad.mit.edu	37	chr15	74467758	74467758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccttcgactgcacctgcGgcatcgtgtggctcaagaca	10	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:74467758G>A	uc002axg.1	+	2	841	c.559G>A	c.(559-561)GGC>AGC	p.G187S	ISLR_uc002axh.1_Missense_Mutation_p.G187S	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	187	LRRCT.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CTGCACCTGCGGCATCGTGTG	0.637													A	74467758	G	A	74467758	3	1	158	1	0	0	0	0	1	0	0	0	7858	1116	39	1	561	1	ISLR	15	74467758	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	40968	74467758	28063634	2126	85907											
CLK3	1198	broad.mit.edu	37	chr15	74921020	74921020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacacatgatccaccgtAccaggtaaggaccccagtag	8	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:74921020A>G	uc010uln.1	+	11	2106	c.1645A>G	c.(1645-1647)ACC>GCC	p.T549A	CLK3_uc002ayg.3_Missense_Mutation_p.T401A|CLK3_uc002ayh.3_Missense_Mutation_p.T180A|CLK3_uc002ayj.3_Missense_Mutation_p.T378A|CLK3_uc002ayk.3_Missense_Mutation_p.T328A|CLK3_uc002ayl.3_Missense_Mutation_p.T234A	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	549	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						GATCCACCGTACCAGGTAAGG	0.547													G	74921020	A	G	74921020	3	3	158	1	0	0	0	0	1	0	0	0	3538	391	14	3	1687	3	CLK3	15	74921020	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	453262	74921020	27610372	2127	85908											
LMAN1L	79748	broad.mit.edu	37	chr15	75117939	75117939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctccctgccagcatgcCtgcctgacccacctcagagc	8	20	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75117939C>T	uc002ayt.1	+	14	1576	c.1574C>T	c.(1573-1575)CCT>CTT	p.P525L	LMAN1L_uc010bke.1_Missense_Mutation_p.P513L|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	525	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GCCAGCATGCCTGCCTGACCC	0.642													T	75117939	C	T	75117939	3	4	158	1	0	0	0	0	1	0	0	0	8837	681	24	4	1628	4	LMAN1L	15	75117939	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	196919	75117939	27413453	2128	85909											
RPP25	54913	broad.mit.edu	37	chr15	75248399	75248399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagccttctccagctgcggGttcccctaggctcctcttgg	12	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75248399G>T	uc002azj.1	-	1	1377	c.526C>A	c.(526-528)CCC>ACC	p.P176T		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	ribonuclease P 25kDa subunit	176					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding				0						CCAGCTGCGGGTTCCCCTAGG	0.692													T	75248399	G	T	75248399	3	4	158	1	0	0	0	0	1	0	0	0	13611	1261	44	5	77	5	RPP25	15	75248399	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	130460	75248399	27282993	2129	85910											
MAN2C1	4123	broad.mit.edu	37	chr15	75650805	75650805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctaccccccgactacctCggtgtggaagcggacatagg	11	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75650805C>T	uc002baf.2	-	20	2418	c.2401G>A	c.(2401-2403)GAG>AAG	p.E801K	MAN2C1_uc002bag.2_Missense_Mutation_p.E801K|MAN2C1_uc002bah.2_Missense_Mutation_p.E818K|MAN2C1_uc010bkk.2_Missense_Mutation_p.E702K	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	801					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						CCGACTACCTCGGTGTGGAAG	0.627													T	75650805	C	T	75650805	3	4	158	1	0	0	0	0	1	0	0	0	9218	893	31	1	749	1	MAN2C1	15	75650805	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	402406	75650805	26880587	2130	85911											
CSPG4	1464	broad.mit.edu	37	chr15	75968881	75968881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgaggtgggccgcccGcccaccaggagatgcccata	14	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75968881G>A	uc002baw.2	-	10	6072	c.5979C>T	c.(5977-5979)GGC>GGT	p.G1993G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1993	Extracellular (Potential).|CSPG 14.|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			ovary(2)|pancreas(1)	3						TGGGCCGCCCGCCCACCAGGA	0.617													A	75968881	G	A	75968881	2	1	158	1	0	0	0	0	0	0	0	1	3960	1074	38	1		1	CSPG4	15	75968881	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	318076	75968881	26562511	2131	85912											
SH2D7	646892	broad.mit.edu	37	chr15	78384986	78384986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagggggcaggggacagCcaggccctggctgagctcca	17	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:78384986C>T	uc010blb.1	+	1	60	c.60C>T	c.(58-60)AGC>AGT	p.S20S		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	20											0						CAGGGGACAGCCAGGCCCTGG	0.627													T	78384986	C	T	78384986	2	4	158	1	0	0	0	0	0	0	0	1	14239	738	26	2		2	SH2D7	15	78384986	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2416105	78384986	24146406	2132	85913											
SH2D7	646892	broad.mit.edu	37	chr15	78390335	78390335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcgttacatcatctcaGgagacacccagagccacagc	9	15	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:78390335G>A	uc010blb.1	+	3	331	c.331G>A	c.(331-333)GGA>AGA	p.G111R		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	111	SH2.										0						CATCATCTCAGGAGACACCCA	0.582													A	78390335	G	A	78390335	3	1	158	1	0	0	0	0	1	0	0	0	14239	1001	35	4	341	4	SH2D7	15	78390335	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5349	78390335	24141057	2133	85914											
ADAMTS7	11173	broad.mit.edu	37	chr15	79066978	79066978	+	Frame_Shift_Del	DEL	C	C	-													gcactcaccgtcattgaccaCgggcacccatgtgtgcagct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:79066977_79066977AC>A	uc002bej.4	-	11	2076	c.1865_1865GT>T	c.(1864-1866)gtgfs	p.V622fs	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Frame_Shift_Del_p.V622fs	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	622	Cys-rich.				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						GTCATTGACCACGGGCACCCA	0.642													-	79066978	C	-	79066978	7	5	158	1	0	1	0	1	0	0	0	0	271	536	19	0	3248	0	ADAMTS7	15	79066978	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	676643	79066978	23464414	2134	85915											
RASGRF1	5923	broad.mit.edu	37	chr15	79323808	79323808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaacgtgctcatgaggcGtgtgggccaggagctcatgg	16	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:79323808G>A	uc002beq.2	-	8	1571	c.1196C>T	c.(1195-1197)ACG>ATG	p.T399M	RASGRF1_uc002bep.2_Missense_Mutation_p.T399M|RASGRF1_uc010blm.1_Missense_Mutation_p.T321M|RASGRF1_uc002ber.3_Missense_Mutation_p.T399M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	399	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			skin(4)|ovary(1)|central_nervous_system(1)	6						CTCATGAGGCGTGTGGGCCAG	0.627													A	79323808	G	A	79323808	3	1	158	1	0	0	0	0	1	0	0	0	13072	1145	40	1	2709	1	RASGRF1	15	79323808	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	256830	79323808	23207584	2135	85916											
KIAA1024	23251	broad.mit.edu	37	chr15	79755409	79755409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttgtgcccctctgcagGcagacaggcagtacgacatt	10	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:79755409G>A	uc002bew.1	+	3	2374	c.2299G>A	c.(2299-2301)GCA>ACA	p.A767T	KIAA1024_uc010unk.1_Missense_Mutation_p.A767T	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	767						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CCCTCTGCAGGCAGACAGGCA	0.567													A	79755409	G	A	79755409	3	1	158	1	0	0	0	0	1	0	0	0	8205	1217	42	2	2305	2	KIAA1024	15	79755409	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	431601	79755409	22775983	2136	85917											
MTHFS	10588	broad.mit.edu	37	chr15	80181594	80181594	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagcagattttgcctcGttggaaaatgtccttgatga	11	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:80181594G>A	uc002bex.3	-	2	260	c.220C>T	c.(220-222)CGA>TGA	p.R74*		NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	74					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		ATTTTGCCTCGTTGGAAAATG	0.413													A	80181594	G	A	80181594	4	1	158	1	0	0	0	0	0	1	0	0	9932	1153	40	1	399	1	MTHFS	15	80181594	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	426185	80181594	22349798	2137	85918											
KIAA1199	57214	broad.mit.edu	37	chr15	81181894	81181894	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcagacctctggaaagcTcacccaggaaaaatatgcaa	7	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:81181894T>G	uc002bfw.1	+	9	1307	c.1047T>G	c.(1045-1047)GCT>GCG	p.A349A	KIAA1199_uc010unn.1_Silent_p.A349A	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	349										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TCTGGAAAGCTCACCCAGGAA	0.403													G	81181894	T	G	81181894	2	3	158	1	0	0	0	0	0	0	0	1	8213	1538	54	5		5	KIAA1199	15	81181894	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1000300	81181894	21349498	2138	85919											
MESDC1	59274	broad.mit.edu	37	chr15	81295628	81295628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtctgaaggctgcacccTgctatctcaggctttaaggg	12	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:81295628T>C	uc002bfz.2	+	1	2334	c.1016T>C	c.(1015-1017)CTG>CCG	p.L339P		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	339											0						GGCTGCACCCTGCTATCTCAG	0.602													C	81295628	T	C	81295628	3	2	158	1	0	0	0	0	1	0	0	0	9480	1580	55	3	1018	3	MESDC1	15	81295628	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	113734	81295628	21235764	2139	85920											
IL16	3603	broad.mit.edu	37	chr15	81572089	81572089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccaagcccaattacagaaTcatggtggaggtttctctgc	10	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:81572089T>C	uc002bgh.3	+	8	1431	c.1055T>C	c.(1054-1056)ATC>ACC	p.I352T	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.I352T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.I394T|IL16_uc002bgg.2_Missense_Mutation_p.I352T|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	352	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						AATTACAGAATCATGGTGGAG	0.587													C	81572089	T	C	81572089	3	2	158	1	0	0	0	0	1	0	0	0	7633	1435	50	3	1081	3	IL16	15	81572089	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	276461	81572089	20959303	2140	85921											
MEX3B	84206	broad.mit.edu	37	chr15	82336383	82336383	+	Frame_Shift_Del	DEL	G	G	-													ctagagaaaggcttgcggccGggggtgggcgtgatgctggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:82336382_82336382CG>C	uc002bgq.1	-	1	1144	c.829_829CG>G	c.(829-831)ggcfs	p.G277fs		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	277					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGCTTGCGGCCGGGGGTGGGC	0.662													-	82336383	G	-	82336383	7	5	158	1	0	1	0	1	0	0	0	0	9510	1103	39	0	885	0	MEX3B	15	82336383	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	764294	82336383	20195009	2141	85922											
EFTUD1	79631	broad.mit.edu	37	chr15	82443856	82443856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacatagctgccatcAggcgctgaggtttcacttgc	11	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:82443856A>G	uc002bgt.1	-	18	3108	c.2939T>C	c.(2938-2940)CTG>CCG	p.L980P	EFTUD1_uc002bgs.1_Missense_Mutation_p.L351P|EFTUD1_uc002bgu.1_Missense_Mutation_p.L929P	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	980					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						AGCTGCCATCAGGCGCTGAGG	0.463													G	82443856	A	G	82443856	3	3	158	1	0	0	0	0	1	0	0	0	4960	188	7	3	435	3	EFTUD1	15	82443856	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	107473	82443856	20087536	2142	85923											
CPEB1	64506	broad.mit.edu	37	chr15	83218385	83218385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggacaaagttactgtcggcTaatacccaggggatcacctg	11	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:83218385T>G	uc002bit.2	-	9	1556	c.1419A>C	c.(1417-1419)TTA>TTC	p.L473F	CPEB1_uc002biq.2_Missense_Mutation_p.L333F|CPEB1_uc002bir.2_Missense_Mutation_p.L338F|CPEB1_uc002bis.2_Missense_Mutation_p.L333F|CPEB1_uc010uod.1_Missense_Mutation_p.L182F|CPEB1_uc010uoe.1_Missense_Mutation_p.L411F|CPEB1_uc002biu.2_Missense_Mutation_p.L435F|CPEB1_uc010uof.1_Missense_Mutation_p.L333F|CPEB1_uc002biv.2_Missense_Mutation_p.L408F|CPEB1_uc002bip.2_Missense_Mutation_p.L182F	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	413	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			TACTGTCGGCTAATACCCAGG	0.572													G	83218385	T	G	83218385	3	3	158	1	0	0	0	0	1	0	0	0	3800	1519	53	5	477	5	CPEB1	15	83218385	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	774529	83218385	19313007	2143	85924											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84700152	84700152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagcttgtcaacacaaCagctctgactccaactgtga	6	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:84700152C>T	uc002bjz.3	+	28	4946	c.4722C>T	c.(4720-4722)AAC>AAT	p.N1574N	ADAMTSL3_uc010bmu.1_Silent_p.N1574N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1574						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTCAACACAACAGCTCTGACT	0.522													T	84700152	C	T	84700152	2	4	158	1	0	0	0	0	0	0	0	1	276	477	17	4		4	ADAMTSL3	15	84700152	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1481767	84700152	17831240	2144	85925											
ALPK3	57538	broad.mit.edu	37	chr15	85383099	85383099	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cggcaaagctgcgcgagatcGagcagagctggaagcacgag	16	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:85383099G>T	uc002ble.2	+	5	1362	c.1195G>T	c.(1195-1197)GAG>TAG	p.E399*		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	399					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCGCGAGATCGAGCAGAGCTG	0.642													T	85383099	G	T	85383099	4	4	158	1	0	0	0	0	0	1	0	0	546	1059	37	5	1213	5	ALPK3	15	85383099	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	682947	85383099	17148293	2145	85926											
ALPK3	57538	broad.mit.edu	37	chr15	85407851	85407851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagaccttccaacactggCtgtatcagtggacaaatggc	10	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:85407851C>T	uc002ble.2	+	12	5451	c.5284C>T	c.(5284-5286)CTG>TTG	p.L1762L	ALPK3_uc010upc.1_Silent_p.L63L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1762	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAACACTGGCTGTATCAGTG	0.557													T	85407851	C	T	85407851	2	4	158	1	0	0	0	0	0	0	0	1	546	796	28	2		2	ALPK3	15	85407851	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	24752	85407851	17123541	2146	85927											
SLC28A1	9154	broad.mit.edu	37	chr15	85438268	85438268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcaccttcctgggccaCcgcctgctgaaacggcttct	9	17	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:85438268C>T	uc002blg.2	+	6	577	c.375C>T	c.(373-375)CAC>CAT	p.H125H	SLC28A1_uc010upd.1_Silent_p.H47H|SLC28A1_uc010bnb.2_Silent_p.H125H|SLC28A1_uc010upe.1_Silent_p.H125H|SLC28A1_uc010upf.1_Silent_p.H125H|SLC28A1_uc010upg.1_Silent_p.H125H|SLC28A1_uc002blf.2_Silent_p.H125H	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	125	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCTGGGCCACCGCCTGCTGA	0.617													T	85438268	C	T	85438268	2	4	158	1	0	0	0	0	0	0	0	1	14531	506	18	4		4	SLC28A1	15	85438268	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	30417	85438268	17093124	2147	85928											
AKAP13	11214	broad.mit.edu	37	chr15	86262364	86262364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagatcatgagtggtgtgtAcagccaggggatgatggcgg	17	6	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:86262364A>G	uc002blv.1	+	23	6229	c.6059A>G	c.(6058-6060)TAC>TGC	p.Y2020C	AKAP13_uc002blu.1_Missense_Mutation_p.Y2024C|AKAP13_uc010bnf.1_Missense_Mutation_p.Y641C|AKAP13_uc002blw.1_Missense_Mutation_p.Y485C|AKAP13_uc002blx.1_Missense_Mutation_p.Y265C	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2020	Interaction with ESR1.|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	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AGTGGTGTGTACAGCCAGGGG	0.448													G	86262364	A	G	86262364	3	3	158	1	0	0	0	0	1	0	0	0	449	391	14	3	6215	3	AKAP13	15	86262364	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	824096	86262364	16269028	2148	85929											
NTRK3	4916	broad.mit.edu	37	chr15	88576217	88576217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagggcgtggtgatgccgtGgttgatgtggtgcagtgggc	21	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:88576217G>T	uc002bme.1	-	13	1618	c.1456C>A	c.(1456-1458)CAC>AAC	p.H486N	NTRK3_uc002bmh.2_Missense_Mutation_p.H478N|NTRK3_uc002bmf.1_Missense_Mutation_p.H486N|NTRK3_uc010upl.1_Missense_Mutation_p.H388N|NTRK3_uc010bnh.1_Missense_Mutation_p.H478N|NTRK3_uc002bmg.2_Missense_Mutation_p.H486N|NTRK3_uc010bni.2_RNA	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	486	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGATGCCGTGGTTGATGTGG	0.602			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			T	88576217	G	T	88576217	3	4	158	1	0	0	0	0	1	0	0	0	10708	1348	47	5	1353	5	NTRK3	15	88576217	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2313853	88576217	13955175	2149	85930											
ACAN	176	broad.mit.edu	37	chr15	89398379	89398379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagctggactgagctgCccagctctggggaggaatct	14	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:89398379C>T	uc010upo.1	+	12	2937	c.2563C>T	c.(2563-2565)CCC>TCC	p.P855S	ACAN_uc010upp.1_Missense_Mutation_p.P855S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	855					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACTGAGCTGCCCAGCTCTGG	0.607													T	89398379	C	T	89398379	3	4	158	1	0	0	0	0	1	0	0	0	117	739	26	2	2605	2	ACAN	15	89398379	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	822162	89398379	13133013	2150	85931											
FANCI	55215	broad.mit.edu	37	chr15	89858575	89858575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaagatcaaaggaaacatCctagacatggttcttcgaga	8	8	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:89858575C>T	uc010bnp.1	+	37	3969	c.3879C>T	c.(3877-3879)ATC>ATT	p.I1293I	FANCI_uc002bnm.1_Silent_p.I1233I|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.I1053I|FANCI_uc002bnq.1_Silent_p.I706I	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1293					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAGGAAACATCCTAGACATGG	0.493								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	89858575	C	T	89858575	2	4	158	1	0	0	0	0	0	0	0	1	5669	845	30	4		4	FANCI	15	89858575	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	460196	89858575	12672817	2151	85932											
C15orf42	90381	broad.mit.edu	37	chr15	90137717	90137717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaattaatacattgccttgCcgagctctaccagagaaaat	7	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90137717C>T	uc002boe.2	+	6	1613	c.1613C>T	c.(1612-1614)GCC>GTC	p.A538V		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	538					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CATTGCCTTGCCGAGCTCTAC	0.408													T	90137717	C	T	90137717	3	4	158	1	0	0	0	0	1	0	0	0	1796	739	26	2	1635	2	C15orf42	15	90137717	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	279142	90137717	12393675	2152	85933											
C15orf42	90381	broad.mit.edu	37	chr15	90167738	90167738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcatcgtggagtgtcaGcctgatgcctccgctactcc	12	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90167738G>A	uc002boe.2	+	20	4197	c.4197G>A	c.(4195-4197)CAG>CAA	p.Q1399Q	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1399					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGAGTGTCAGCCTGATGCCT	0.572													A	90167738	G	A	90167738	2	1	158	1	0	0	0	0	0	0	0	1	1796	962	34	2		2	C15orf42	15	90167738	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	30021	90167738	12363654	2153	85934											
KIF7	374654	broad.mit.edu	37	chr15	90177089	90177089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgacaccagccgctccGtagcctgcttcttctccttc	7	17	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90177089G>A	uc002bof.2	-	12	2497	c.2420C>T	c.(2419-2421)ACG>ATG	p.T807M	KIF7_uc010upw.1_Missense_Mutation_p.T293M	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	807	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGCCGCTCCGTAGCCTGCTT	0.632													A	90177089	G	A	90177089	3	1	158	1	0	0	0	0	1	0	0	0	8309	1145	40	1	1643	1	KIF7	15	90177089	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	9351	90177089	12354303	2154	85935											
ANPEP	290	broad.mit.edu	37	chr15	90348617	90348617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcgtgatgttgaactcgGccttcatggccggctcatcg	12	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90348617G>A	uc002bop.3	-	3	984	c.692C>T	c.(691-693)GCC>GTC	p.A231V		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	231	Extracellular.|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			ovary(3)|skin(1)	4	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)	GTTGAACTCGGCCTTCATGGC	0.612													A	90348617	G	A	90348617	3	1	158	1	0	0	0	0	1	0	0	0	710	1203	42	2	2287	2	ANPEP	15	90348617	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	171528	90348617	12182775	2155	85936											
FES	2242	broad.mit.edu	37	chr15	91436921	91436921	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcctggtgacagagaagAatgtcctgaagatcagtgac	12	8	1	6			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:91436921A>C	uc002bpv.2	+	17	2179	c.2083A>C	c.(2083-2085)AAT>CAT	p.N695H	FES_uc010uqj.1_Missense_Mutation_p.N567H|FES_uc010uqk.1_Missense_Mutation_p.N677H|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.N554H|FES_uc002bpx.2_Missense_Mutation_p.N625H|FES_uc002bpy.2_Missense_Mutation_p.N637H	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	695	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GACAGAGAAGAATGTCCTGAA	0.612													C	91436921	A	C	91436921	3	2	158	1	0	0	0	0	1	0	0	0	5820	246	9	5	2145	5	FES	15	91436921	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1088304	91436921	11094471	2156	85937											
PRC1	9055	broad.mit.edu	37	chr15	91517829	91517829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttactctttcctgcttggCtctctctttctccaatcgat	4	14	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:91517829C>T	uc002bqm.2	-	10	1493	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	PRC1_uc002bqn.2_Missense_Mutation_p.A446T|PRC1_uc002bqo.2_Missense_Mutation_p.A446T|PRC1_uc010uqs.1_Missense_Mutation_p.A405T	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	446	Potential.|Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCCTGCTTGGCTCTCTCTTTC	0.468													T	91517829	C	T	91517829	3	4	158	1	0	0	0	0	1	0	0	0	12446	797	28	2	550	2	PRC1	15	91517829	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	80908	91517829	11013563	2157	85938											
VPS33B	26276	broad.mit.edu	37	chr15	91543776	91543776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaccgaagacgtaagccaTgtctcggggcactttcagat	10	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:91543776T>G	uc002bqp.1	-	20	1879	c.1525A>C	c.(1525-1527)ATG>CTG	p.M509L	VPS33B_uc002bqq.1_Missense_Mutation_p.M418L|VPS33B_uc010uqu.1_Missense_Mutation_p.M482L	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	509					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			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACGTAAGCCATGTCTCGGGGC	0.498													G	91543776	T	G	91543776	3	3	158	1	0	0	0	0	1	0	0	0	17199	1464	51	5	344	5	VPS33B	15	91543776	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	25947	91543776	10987616	2158	85939											
MEF2A	4205	broad.mit.edu	37	chr15	100214625	100214625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctcagaacttttcaAtgtctgtcacagttccagtg	7	12	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:100214625A>T	uc010urw.1	+	5	783	c.424A>T	c.(424-426)ATG>TTG	p.M142L	MEF2A_uc010urv.1_Missense_Mutation_p.M72L|MEF2A_uc010bos.2_Missense_Mutation_p.M140L|MEF2A_uc002bvf.2_Missense_Mutation_p.M142L|MEF2A_uc002bve.2_Missense_Mutation_p.M140L|MEF2A_uc002bvg.2_Missense_Mutation_p.M140L|MEF2A_uc002bvi.2_Missense_Mutation_p.M140L|MEF2A_uc010bot.2_Missense_Mutation_p.M72L	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	142	Ser/Thr-rich.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|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|positive regulation of muscle cell differentiation|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GAACTTTTCAATGTCTGTCAC	0.428													T	100214625	A	T	100214625	3	4	158	1	0	0	0	0	1	0	0	0	9455	101	4	5	574	5	MEF2A	15	100214625	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	8670849	100214625	2316767	2159	85940											
ADAMTS17	170691	broad.mit.edu	37	chr15	100649211	100649211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggcacttgccgtgcaCgcagagatcagtctcgtagg	12	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:100649211C>T	uc002bvv.1	-	14	2078	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ADAMTS17_uc002bvx.1_Missense_Mutation_p.V424M	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	667	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTGCCGTGCACGCAGAGATCA	0.627													T	100649211	C	T	100649211	3	4	158	1	0	0	0	0	1	0	0	0	262	536	19	1	1324	1	ADAMTS17	15	100649211	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	434586	100649211	1882181	2160	85941											
TMEM8A	58986	broad.mit.edu	37	chr16	425374	425374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgagcgaagtattgaagCcaaggaagggcgaggcagca	16	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:425374C>T	uc002cgu.3	-	7	1415	c.1286G>A	c.(1285-1287)GGC>GAC	p.G429D	TMEM8A_uc002cgv.3_Missense_Mutation_p.G236D	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	429	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						AGTATTGAAGCCAAGGAAGGG	0.667													T	425374	C	T	425374	3	4	158	1	0	0	0	0	1	0	0	0	16211	739	26	2	1057	2	TMEM8A	16	425374	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08		425374	89929379	2161	85942											
NME4	4833	broad.mit.edu	37	chr16	449051	449051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccgatggcgtgcaacgGcggctcgttggggacgtgat	17	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:449051G>A	uc002cgz.2	+	2	184	c.153G>A	c.(151-153)CGG>CGA	p.R51R	NME4_uc002cgy.2_5'UTR|NME4_uc002cha.2_RNA|DECR2_uc002chb.2_5'Flank|DECR2_uc002chc.2_5'Flank|DECR2_uc010bqv.2_5'Flank|DECR2_uc002chd.2_5'Flank	NM_005009	NP_005000	O00746	NDKM_HUMAN	nucleoside diphosphate kinase 4 precursor	51					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				0		Hepatocellular(16;0.00015)				GCGTGCAACGGCGGCTCGTTG	0.652													A	449051	G	A	449051	2	1	158	1	0	0	0	0	0	0	0	1	10493	1190	42	2		2	NME4	16	449051	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	23677	449051	89905702	2162	85943											
PIGQ	9091	broad.mit.edu	37	chr16	624400	624400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgttctggagctgcgaggCcacccaccggcaagcgccca	12	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:624400C>T	uc002cho.2	+	2	428	c.326C>T	c.(325-327)GCC>GTC	p.A109V	PIGQ_uc010bqw.2_Missense_Mutation_p.A109V|PIGQ_uc002chm.2_Missense_Mutation_p.A109V|PIGQ_uc002chn.2_Missense_Mutation_p.A109V|PIGQ_uc010uui.1_Missense_Mutation_p.A123V	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	109					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)	1		Hepatocellular(780;0.00335)				AGCTGCGAGGCCACCCACCGG	0.672													T	624400	C	T	624400	3	4	158	1	0	0	0	0	1	0	0	0	11896	739	26	2	328	2	PIGQ	16	624400	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	175349	624400	89730353	2163	85944											
CCDC78	124093	broad.mit.edu	37	chr16	774503	774503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttggcctgcaccatctgCgtgctcctggaggcggcggg	16	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:774503C>T	uc002cjg.2	-	9	878	c.772G>A	c.(772-774)GCA>ACA	p.A258T	CCDC78_uc002cjf.2_Missense_Mutation_p.A107T|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Missense_Mutation_p.A17T|CCDC78_uc010uuo.1_3'UTR|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	258										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				GCACCATCTGCGTGCTCCTGG	0.711													T	774503	C	T	774503	3	4	158	1	0	0	0	0	1	0	0	0	2852	768	27	1	568	1	CCDC78	16	774503	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	150103	774503	89580250	2164	85945											
NARFL	64428	broad.mit.edu	37	chr16	780637	780637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctggggcctggagctggCccccgccgttcaggcagcct	15	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:780637C>T	uc002cjr.2	-	11	1223	c.1211G>A	c.(1210-1212)GGC>GAC	p.G404D	NARFL_uc002cjp.2_Missense_Mutation_p.G302D|NARFL_uc002cjq.2_Missense_Mutation_p.G302D|NARFL_uc002cjs.2_Missense_Mutation_p.G186D	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	404					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				CTGGAGCTGGCCCCCGCCGTT	0.701													T	780637	C	T	780637	3	4	158	1	0	0	0	0	1	0	0	0	10168	739	26	2	223	2	NARFL	16	780637	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6134	780637	89574116	2165	85946											
CACNA1H	8912	broad.mit.edu	37	chr16	1250471	1250471	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaacgcctgcatcaactGgaaccagtactacaacgtgt	8	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1250471G>A	uc002cks.2	+	7	1267	c.1019G>A	c.(1018-1020)TGG>TAG	p.W340*	CACNA1H_uc002ckt.2_Nonsense_Mutation_p.W340*	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	340	Extracellular (Potential).|I.				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCATCAACTGGAACCAGTAC	0.657													A	1250471	G	A	1250471	4	1	158	1	0	0	0	0	0	1	0	0	2545	1357	47	4	1041	4	CACNA1H	16	1250471	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	469834	1250471	89104282	2166	85947											
TPSG1	25823	broad.mit.edu	37	chr16	1273479	1273479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgagcagtgacccgccGcacacgtgcaccctccgcag	13	17	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1273479G>A	uc002ckw.2	-	3	191	c.189C>T	c.(187-189)TGC>TGT	p.C63C		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein	63	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GTGACCCGCCGCACACGTGCA	0.716													A	1273479	G	A	1273479	2	1	158	1	0	0	0	0	0	0	0	1	16423	1079	38	1		1	TPSG1	16	1273479	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	23008	1273479	89081274	2167	85948											
BAIAP3	8938	broad.mit.edu	37	chr16	1392602	1392602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgcgtgtgcagggacaCtgccacctggttctcaagct	12	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1392602C>T	uc002clk.1	+	12	1137	c.1137C>T	c.(1135-1137)CAC>CAT	p.H379H	BAIAP3_uc002clj.2_Silent_p.H361H|BAIAP3_uc010uuz.1_Silent_p.H344H|BAIAP3_uc010uva.1_Silent_p.H316H|BAIAP3_uc010uvc.1_Intron	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	379					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TGCAGGGACACTGCCACCTGG	0.682													T	1392602	C	T	1392602	2	4	158	1	0	0	0	0	0	0	0	1	1304	564	20	4		4	BAIAP3	16	1392602	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	119123	1392602	88962151	2168	85949											
BAIAP3	8938	broad.mit.edu	37	chr16	1395287	1395287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggctggcatccacgccCccttcctgcctgctgtgaag	10	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1395287C>A	uc002clk.1	+	22	2083	c.2083C>A	c.(2083-2085)CCC>ACC	p.P695T	BAIAP3_uc002clj.2_Missense_Mutation_p.P677T|BAIAP3_uc010uuz.1_Missense_Mutation_p.P660T|BAIAP3_uc010uva.1_Missense_Mutation_p.P632T|BAIAP3_uc010uvc.1_Missense_Mutation_p.P624T	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	695	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CATCCACGCCCCCTTCCTGCC	0.642													A	1395287	C	A	1395287	3	1	158	1	0	0	0	0	1	0	0	0	1304	623	22	5	2169	5	BAIAP3	16	1395287	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2685	1395287	88959466	2169	85950											
CLCN7	1186	broad.mit.edu	37	chr16	1498368	1498368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtacctgggtgtcatcGgcatgctccaccacggggaa	13	14	1	0	rs147848788		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1498368G>A	uc002clv.2	-	21	2111	c.2001C>T	c.(1999-2001)GCC>GCT	p.A667A	CLCN7_uc010brq.1_Silent_p.A37A|CLCN7_uc002clu.2_Silent_p.A115A|CLCN7_uc002clw.2_Silent_p.A643A	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	667	Cytoplasmic (By similarity).|CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GGGTGTCATCGGCATGCTCCA	0.617													A	1498368	G	A	1498368	2	1	158	1	0	0	0	0	0	0	0	1	3468	1103	39	1		1	CLCN7	16	1498368	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	103081	1498368	88856385	2170	85951											
PTX4	390667	broad.mit.edu	37	chr16	1536392	1536392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagggagtctcggcCgtgcagcaccagcttgttgt	16	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1536392C>A	uc010uvf.1	-	3	970	c.970G>T	c.(970-972)GGC>TGC	p.G324C		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	329	Pentaxin.					extracellular region	metal ion binding				0						GAGTCTCGGCCGTGCAGCACC	0.677													A	1536392	C	A	1536392	3	1	158	1	0	0	0	0	1	0	0	0	12823	652	23	5	454	5	PTX4	16	1536392	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	38024	1536392	88818361	2171	85952											
EME2	197342	broad.mit.edu	37	chr16	1826089	1826089	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggaggcctgcagcacGgagcgggagcgcatgggcct	19	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1826089G>T	uc002cmq.1	+	8	1185	c.1185G>T	c.(1183-1185)ACG>ACT	p.T395T	MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.T330T	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	344					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CCTGCAGCACGGAGCGGGAGC	0.726								Direct_reversal_of_damage|Homologous_recombination					T	1826089	G	T	1826089	2	4	158	1	0	0	0	0	0	0	0	1	5089	1103	39	5		5	EME2	16	1826089	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	289697	1826089	88528664	2172	85953											
NUBP2	10101	broad.mit.edu	37	chr16	1836584	1836584	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatcctggtcctctcAggaaaggggggcgttgggaa	14	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1836584A>G	uc002cmw.3	+	2	152	c.63A>G	c.(61-63)TCA>TCG	p.S21S	NUBP2_uc002cmx.3_5'UTR|NUBP2_uc010brx.2_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	21						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						TGGTCCTCTCAGGAAAGGGGG	0.647													G	1836584	A	G	1836584	2	3	158	1	0	0	0	0	0	0	0	1	10716	175	7	3		3	NUBP2	16	1836584	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	10495	1836584	88518169	2173	85954											
TBL3	10607	broad.mit.edu	37	chr16	2024398	2024398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaccaggaggacatcactGcctttgacctcagccctgac	10	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2024398G>T	uc002cnu.1	+	4	313	c.211G>T	c.(211-213)GCC>TCC	p.A71S	TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'Flank|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	71	WD 1.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GGACATCACTGCCTTTGACCT	0.647													T	2024398	G	T	2024398	3	4	158	1	0	0	0	0	1	0	0	0	15640	1319	46	5	225	5	TBL3	16	2024398	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	187814	2024398	88330355	2174	85955											
NTHL1	4913	broad.mit.edu	37	chr16	2096133	2096133	+	Frame_Shift_Del	DEL	G	G	-													tggggcccctgcctacctttGggggggcactggagtcatag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2096132_2096132TG>T	uc002col.1	-	1	394	c.375_375CA>A	c.(373-375)ccafs	p.P125fs	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	125					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						TGCCTACCTTTGGGGGGGCAC	0.582								Base excision repair (BER), DNA glycosylases					-	2096133	G	-	2096133	7	5	158	1	0	1	0	1	0	0	0	0	10698	1348	47	0	584	0	NTHL1	16	2096133	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	71735	2096133	88258620	2175	85956											
TSC2	7249	broad.mit.edu	37	chr16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgaggccttccggtgccGcagcatcagtgtgtctgaac	13	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2127694G>A	uc002con.2	+	26	3039	c.2933G>A	c.(2932-2934)CGC>CAC	p.R978H	TSC2_uc010bsd.2_Missense_Mutation_p.R978H|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	978					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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2127694	G	A	2127694	3	1	158	1	0	0	0	0	1	0	0	0	16603	1087	38	1	3031	1	TSC2	16	2127694	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	31561	2127694	88227059	2176	85957											
PKD1	5310	broad.mit.edu	37	chr16	2155908	2155908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacgagtactcgatgacGtgctggggatcggcctgccg	15	12	0	1	rs78726010		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2155908G>A	uc002cos.1	-	20	8030	c.7821C>T	c.(7819-7821)CAC>CAT	p.H2607H	PKD1_uc002cot.1_Silent_p.H2607H|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2607	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACTCGATGACGTGCTGGGGAT	0.657													A	2155908	G	A	2155908	2	1	158	1	0	0	0	0	0	0	0	1	11963	1136	40	1		1	PKD1	16	2155908	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	28214	2155908	88198845	2177	85958											
PKD1	5310	broad.mit.edu	37	chr16	2164302	2164302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccaccacgtccaccaCgtgctccccctcactgagcc	5	22	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2164302C>T	uc002cos.1	-	11	2931	c.2722G>A	c.(2722-2724)GTG>ATG	p.V908M	PKD1_uc002cot.1_Missense_Mutation_p.V908M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	908	Extracellular (Potential).|PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACGTCCACCACGTGCTCCCCC	0.697													T	2164302	C	T	2164302	3	4	158	1	0	0	0	0	1	0	0	0	11963	536	19	1	10333	1	PKD1	16	2164302	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	8394	2164302	88190451	2178	85959											
ABCA3	21	broad.mit.edu	37	chr16	2349473	2349473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggacggtgatctgtccctCgtacaggttgaggttcaggt	14	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2349473C>T	uc002cpy.1	-	14	2384	c.1672G>A	c.(1672-1674)GAG>AAG	p.E558K	ABCA3_uc010bsk.1_Missense_Mutation_p.E500K|ABCA3_uc010bsl.1_Missense_Mutation_p.E558K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	558	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(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				ATCTGTCCCTCGTACAGGTTG	0.647													T	2349473	C	T	2349473	3	4	158	1	0	0	0	0	1	0	0	0	33	893	31	1	3522	1	ABCA3	16	2349473	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	185171	2349473	88005280	2179	85960											
CCNF	899	broad.mit.edu	37	chr16	2503500	2503500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcacaggggagatccaCgccttcctcagctctccctc	8	18	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2503500C>T	uc002cqd.1	+	15	1765	c.1677C>T	c.(1675-1677)CAC>CAT	p.H559H	CCNF_uc002cqe.1_Silent_p.H251H	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	559					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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				GGGAGATCCACGCCTTCCTCA	0.607													T	2503500	C	T	2503500	2	4	158	1	0	0	0	0	0	0	0	1	2922	535	19	1		1	CCNF	16	2503500	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	154027	2503500	87851253	2180	85961											
AMDHD2	51005	broad.mit.edu	37	chr16	2578060	2578060	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaatccaggtcccgcaGggcactcagtggctgacctg	13	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2578060G>T	uc002cqq.2	+	6	726	c.629_splice	c.e6-1	p.G210_splice	AMDHD2_uc002cqp.2_Splice_Site_p.G210_splice|AMDHD2_uc010uwc.1_Splice_Site_p.G210_splice|AMDHD2_uc010uwd.1_Splice_Site	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1						N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						AGGTCCCGCAGGGCACTCAGT	0.662													T	2578060	G	T	2578060	5	4	158	1	0	0	0	0	0	0	1	0	568	1014	35	5	650	5	AMDHD2	16	2578060	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	74560	2578060	87776693	2181	85962											
SRRM2	23524	broad.mit.edu	37	chr16	2816741	2816743	+	In_Frame_Del	DEL	CTC	CTC	-													taaacggtccttaacaagatCtcctccagccatccgcaggc					rs34563620		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2816741_2816743delCTC	uc002crk.2	+	11	6761_6763	c.6212_6214delCTC	c.(6211-6216)TCTCCT>TCT	p.P2073del	SRRM2_uc002crj.1_In_Frame_Del_p.P1977del|SRRM2_uc002crl.1_In_Frame_Del_p.P2073del|SRRM2_uc010bsu.1_In_Frame_Del_p.P1977del	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2073	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TTAACAAGATCTCCTCCAGCCAT	0.547													-	2816743	CTC	-	2816741	7	5	158	1	0	1	0	1	0	0	0	0	15168	913	32	0	6250	0	SRRM2	16	2816741	In_Frame_Del	DEL	CTC	TCGA-CD-A4MG-01A-11D-A25D-08	238681	2816741	87538012	2182	85963											
FLYWCH1	84256	broad.mit.edu	37	chr16	2988286	2988286	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaaggcggctggggagaagGtgtactggatgtgccgggac	20	6	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2988286G>C	uc002csd.2	+	8	2242	c.1879G>C	c.(1879-1881)GTG>CTG	p.V627L	FLYWCH1_uc002csb.2_Missense_Mutation_p.V626L|FLYWCH1_uc002csc.2_Missense_Mutation_p.V626L|FLYWCH1_uc010bsv.2_Missense_Mutation_p.V351L|FLYWCH1_uc002cse.2_Missense_Mutation_p.V82L	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	627	FLYWCH-type 5.					nucleus	DNA binding|metal ion binding				0						TGGGGAGAAGGTGTACTGGAT	0.662													C	2988286	G	C	2988286	3	2	158	1	0	0	0	0	1	0	0	0	5947	1261	44	5	1898	5	FLYWCH1	16	2988286	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	171545	2988286	87366467	2183	85964											
CLDN9	9080	broad.mit.edu	37	chr16	3063378	3063378	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagatggcttcgaccggCttagaactgctgggcatgac	14	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3063378C>A	uc010uwo.1	+	1	922	c.15C>A	c.(13-15)GGC>GGA	p.G5G		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	5	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CTTCGACCGGCTTAGAACTGC	0.647													A	3063378	C	A	3063378	2	1	158	1	0	0	0	0	0	0	0	1	3492	784	28	5		5	CLDN9	16	3063378	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	75092	3063378	87291375	2184	85965											
CLDN9	9080	broad.mit.edu	37	chr16	3063462	3063462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccctgtggaaggtgacCgccttcatcggcaacagcat	11	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3063462C>T	uc010uwo.1	+	1	1006	c.99C>T	c.(97-99)ACC>ACT	p.T33T		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	33	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGAAGGTGACCGCCTTCATCG	0.652													T	3063462	C	T	3063462	2	4	158	1	0	0	0	0	0	0	0	1	3492	639	23	1		1	CLDN9	16	3063462	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	84	3063462	87291291	2185	85966											
TIGD7	91151	broad.mit.edu	37	chr16	3350247	3350247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatctaaaaagccaaccaGtgctagctttgaaatctgtt	7	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3350247G>A	uc002cus.2	-	1	1154	c.368C>T	c.(367-369)ACT>ATT	p.T123I	ZNF263_uc002cur.2_3'UTR|TIGD7_uc010btj.1_RNA	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	123	HTH CENPB-type.|H-T-H motif (By similarity).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AAGCCAACCAGTGCTAGCTTT	0.478													A	3350247	G	A	3350247	3	1	158	1	0	0	0	0	1	0	0	0	15898	1029	36	4	1285	4	TIGD7	16	3350247	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	286785	3350247	87004506	2186	85967											
ZNF597	146434	broad.mit.edu	37	chr16	3493136	3493136	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacctgggcctcgggcgtCgggggcatggacgccatttg	16	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3493136C>T	uc002cvd.2	-	2	202	c.18G>A	c.(16-18)CCG>CCA	p.P6P	NAT15_uc002cvh.3_5'Flank|NAT15_uc010uxb.1_5'Flank	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTCGGGCGTCGGGGGCATGG	0.582													T	3493136	C	T	3493136	2	4	158	1	0	0	0	0	0	0	0	1	18024	871	31	1		1	ZNF597	16	3493136	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	142889	3493136	86861617	2187	85968											
BTBD12	84464	broad.mit.edu	37	chr16	3656674	3656674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaacaggaaggaggaggCtgggagtcgctgttgggcac	18	7	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3656674C>A	uc002cvp.2	-	3	1188	c.561G>T	c.(559-561)CAG>CAT	p.Q187H	BTBD12_uc002cvq.1_Missense_Mutation_p.Q187H	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	187	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AAGGAGGAGGCTGGGAGTCGC	0.493								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3656674	C	A	3656674	3	1	158	1	0	0	0	0	1	0	0	0	1540	796	28	5	4995	5	BTBD12	16	3656674	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	163538	3656674	86698079	2188	85969											
TRAP1	10131	broad.mit.edu	37	chr16	3726065	3726065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcctcgctggaaaactcCttgcagtcggatttcaggtg	13	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3726065C>A	uc002cvt.3	-	7	875	c.786G>T	c.(784-786)AAG>AAT	p.K262N	TRAP1_uc002cvs.2_Missense_Mutation_p.K53N|TRAP1_uc010uxf.1_Missense_Mutation_p.K209N	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	262					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TGGAAAACTCCTTGCAGTCGG	0.582													A	3726065	C	A	3726065	3	1	158	1	0	0	0	0	1	0	0	0	16452	680	24	5	1376	5	TRAP1	16	3726065	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	69391	3726065	86628688	2189	85970											
CREBBP	1387	broad.mit.edu	37	chr16	3795299	3795299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggccaaatgatgtcaTagtgcagaacgcaaatctga	10	8	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3795299T>C	uc002cvv.2	-	22	4097	c.3893A>G	c.(3892-3894)TAT>TGT	p.Y1298C	CREBBP_uc002cvw.2_Missense_Mutation_p.Y1260C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1298	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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AATGATGTCATAGTGCAGAAC	0.537			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				C	3795299	T	C	3795299	3	2	158	1	0	0	0	0	1	0	0	0	3861	1406	49	3	3475	3	CREBBP	16	3795299	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	69234	3795299	86559454	2190	85971											
CREBBP	1387	broad.mit.edu	37	chr16	3799628	3799628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaatagctatatacttacGgttcggggtctaaggtatca	10	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3799628G>A	uc002cvv.2	-	21	4040	c.3836C>T	c.(3835-3837)CCT>CTT	p.P1279L	CREBBP_uc002cvw.2_Missense_Mutation_p.P1241L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1279	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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATATACTTACGGTTCGGGGTC	0.294			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3799628	G	A	3799628	3	1	158	1	0	0	0	0	1	0	0	0	3861	1130	39	1	3536	1	CREBBP	16	3799628	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4329	3799628	86555125	2191	85972											
CREBBP	1387	broad.mit.edu	37	chr16	3820945	3820945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctggcctgaggccccaGcatgttgagagggttaggaa	16	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3820945G>T	uc002cvv.2	-	14	2710	c.2506C>A	c.(2506-2508)CTG>ATG	p.L836M	CREBBP_uc002cvw.2_Missense_Mutation_p.L798M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	836					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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGGCCCCAGCATGTTGAGA	0.547			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3820945	G	T	3820945	3	4	158	1	0	0	0	0	1	0	0	0	3861	962	34	5	4894	5	CREBBP	16	3820945	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	21317	3820945	86533808	2192	85973											
CREBBP	1387	broad.mit.edu	37	chr16	3824574	3824574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagaacacttacccctGgcactgagcccatgctgttc	9	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3824574G>T	uc002cvv.2	-	12	2483	c.2279C>A	c.(2278-2280)CCA>CAA	p.P760Q	CREBBP_uc002cvw.2_Missense_Mutation_p.P722Q	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	760					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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTACCCCTGGCACTGAGCC	0.527			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3824574	G	T	3824574	3	4	158	1	0	0	0	0	1	0	0	0	3861	1348	47	5	5129	5	CREBBP	16	3824574	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3629	3824574	86530179	2193	85974											
ADCY9	115	broad.mit.edu	37	chr16	4027532	4027532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcggcccggcccccaCgacggtggcgagggaggacc	18	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4027532C>T	uc002cvx.2	-	9	3318	c.2779G>A	c.(2779-2781)GTG>ATG	p.V927M		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	927	Helical; (Potential).				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			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CCGGCCCCCACGACGGTGGCG	0.672													T	4027532	C	T	4027532	3	4	158	1	0	0	0	0	1	0	0	0	301	536	19	1	1294	1	ADCY9	16	4027532	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	202958	4027532	86327221	2194	85975											
CORO7	79585	broad.mit.edu	37	chr16	4412678	4412678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactggtgctggagagtgagGgccccaggctggagggcgtg	20	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4412678G>T	uc002cwh.3	-	15	1457	c.1337C>A	c.(1336-1338)CCC>CAC	p.P446H	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.P446H|CORO7_uc002cwg.3_Missense_Mutation_p.P226H|CORO7_uc010uxh.1_Missense_Mutation_p.P428H|CORO7_uc010uxi.1_Missense_Mutation_p.P361H|CORO7_uc002cwi.1_Missense_Mutation_p.P226H|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.P226H	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	446						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GGAGAGTGAGGGCCCCAGGCT	0.677													T	4412678	G	T	4412678	3	4	158	1	0	0	0	0	1	0	0	0	3759	1232	43	5	1496	5	CORO7	16	4412678	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	385146	4412678	85942075	2195	85976											
MGRN1	23295	broad.mit.edu	37	chr16	4731615	4731615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcgctcaacggcctccGggctgtctccccggccatcc	12	19	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4731615G>A	uc002cwz.2	+	13	1332	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	MGRN1_uc002cxa.2_Missense_Mutation_p.R399Q|MGRN1_uc010btx.2_Missense_Mutation_p.R378Q|MGRN1_uc010btw.2_Missense_Mutation_p.R378Q|MGRN1_uc002cxb.2_Missense_Mutation_p.R438Q|MGRN1_uc010uxo.1_Missense_Mutation_p.R377Q|MGRN1_uc010uxp.1_Missense_Mutation_p.R377Q|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	399					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|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						AACGGCCTCCGGGCTGTCTCC	0.652													A	4731615	G	A	4731615	3	1	158	1	0	0	0	0	1	0	0	0	9559	1116	39	1	1249	1	MGRN1	16	4731615	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	318937	4731615	85623138	2196	85977											
PPL	5493	broad.mit.edu	37	chr16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-													gccagggcctcagggtctgtGggggggatcacaaaacacac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4944499_4944499TG>T	uc002cyd.1	-	11	1453	c.1363_1363CA>A	c.(1363-1365)acafs	p.T455fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	455					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(2)		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						TCAGGGTCTGTGGGGGGGATC	0.612													-	4944500	G	-	4944500	7	5	158	1	0	1	0	1	0	0	0	0	12334	1335	47	0	3952	0	PPL	16	4944500	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	212885	4944500	85410253	2197	85978											
SEC14L5	9717	broad.mit.edu	37	chr16	5064915	5064915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcccagctcagcgccGccacctcgtcctcctcctcc	6	23	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:5064915G>A	uc002cye.2	+	16	2215	c.2035G>A	c.(2035-2037)GCC>ACC	p.A679T		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	679	Ser-rich.					integral to membrane|intracellular	transporter activity				0						GCTCAGCGCCGCCACCTCGTC	0.657													A	5064915	G	A	5064915	3	1	158	1	0	0	0	0	1	0	0	0	13985	1087	38	1	2093	1	SEC14L5	16	5064915	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	120415	5064915	85289838	2198	85979											
USP7	7874	broad.mit.edu	37	chr16	8998333	8998333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcctgccgctccttccGcttctgagcctcgatccttt	8	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:8998333G>A	uc002czl.2	-	15	1862	c.1663C>T	c.(1663-1665)CGG>TGG	p.R555W	USP7_uc010uyk.1_Missense_Mutation_p.R456W|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.R456W|USP7_uc002czk.2_Missense_Mutation_p.R539W|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	555					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			ovary(3)	3						CGCTCCTTCCGCTTCTGAGCC	0.557													A	8998333	G	A	8998333	3	1	158	1	0	0	0	0	1	0	0	0	17085	1086	38	1	1713	1	USP7	16	8998333	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3933418	8998333	81356420	2199	85980											
GRIN2A	2903	broad.mit.edu	37	chr16	9858573	9858573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggacctgttgtctgagTacatcaaattccccttatct	7	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:9858573T>C	uc002czo.3	-	13	3376	c.2828A>G	c.(2827-2829)TAC>TGC	p.Y943C	GRIN2A_uc010uym.1_Missense_Mutation_p.Y943C|GRIN2A_uc010uyn.1_Missense_Mutation_p.Y786C|GRIN2A_uc002czr.3_Missense_Mutation_p.Y943C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	943	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCTGAGTACATCAAATT	0.448													C	9858573	T	C	9858573	3	2	158	1	0	0	0	0	1	0	0	0	6779	1638	57	3	1570	3	GRIN2A	16	9858573	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	860240	9858573	80496180	2200	85981											
NUBP1	4682	broad.mit.edu	37	chr16	10850599	10850599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcctgctcagcagtcCtgatgatgctgttatctgga	12	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:10850599C>A	uc002daa.1	+	6	436	c.413C>A	c.(412-414)CCT>CAT	p.P138H	NUBP1_uc010bum.1_Intron|NUBP1_uc002dab.1_Missense_Mutation_p.P127H	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	138					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						CTCAGCAGTCCTGATGATGCT	0.522													A	10850599	C	A	10850599	3	1	158	1	0	0	0	0	1	0	0	0	10715	681	24	5	435	5	NUBP1	16	10850599	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	992026	10850599	79504154	2201	85982											
CIITA	4261	broad.mit.edu	37	chr16	11000930	11000930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctgctccctccggggGctgctggccggccttttcca	13	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:11000930G>A	uc002dai.3	+	11	1714	c.1581G>A	c.(1579-1581)GGG>GGA	p.G527G	CIITA_uc002daj.3_Silent_p.G528G|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.G527G|CIITA_uc002dah.2_Silent_p.G479G|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	527	NACHT.				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)	1						CCCTCCGGGGGCTGCTGGCCG	0.687			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								A	11000930	G	A	11000930	2	1	158	1	0	0	0	0	0	0	0	1	3428	1190	42	2		2	CIITA	16	11000930	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	150331	11000930	79353823	2202	85983											
CLEC16A	23274	broad.mit.edu	37	chr16	11214578	11214578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttggtggagcctgatgtGtccaggcttggctggggagt	18	6	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:11214578G>A	uc002dao.2	+	20	2453	c.2223G>A	c.(2221-2223)GTG>GTA	p.V741V	CLEC16A_uc002dan.3_Silent_p.V723V	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	741										ovary(1)|central_nervous_system(1)	2						AGCCTGATGTGTCCAGGCTTG	0.498													A	11214578	G	A	11214578	2	1	158	1	0	0	0	0	0	0	0	1	3500	1364	48	4		4	CLEC16A	16	11214578	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	213648	11214578	79140175	2203	85984											
RSL1D1	26156	broad.mit.edu	37	chr16	11940598	11940598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagtgagggtaagagccGcctaattctggcatcagtaa	12	7	2	3	rs145073718		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:11940598G>A	uc002dbp.1	-	4	560	c.487C>T	c.(487-489)CGG>TGG	p.R163W	RSL1D1_uc010buv.1_Missense_Mutation_p.R163W|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	163					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						GGTAAGAGCCGCCTAATTCTG	0.408													A	11940598	G	A	11940598	3	1	158	1	0	0	0	0	1	0	0	0	13700	1086	38	1	1009	1	RSL1D1	16	11940598	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	726020	11940598	78414155	2204	85985											
ERCC4	2072	broad.mit.edu	37	chr16	14020477	14020477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagaagcattcatcttgCgcctctttcgccagaaaaac	7	12	4	2	rs145402255		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:14020477C>T	uc002dce.2	+	3	457	c.448C>T	c.(448-450)CGC>TGC	p.R150C	ERCC4_uc010bva.2_Missense_Mutation_p.R150C	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	150					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			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						ATTCATCTTGCGCCTCTTTCG	0.413			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	14020477	C	T	14020477	3	4	158	1	0	0	0	0	1	0	0	0	5215	768	27	1	458	1	ERCC4	16	14020477	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2079879	14020477	76334276	2205	85986											
ERCC4	2072	broad.mit.edu	37	chr16	14029286	14029286	+	Frame_Shift_Del	DEL	A	A	-													accttaactcaaatggtaggAaaacctgaagaactggaaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:14029286delA	uc002dce.2	+	8	1506	c.1497delA	c.(1495-1497)GGAfs	p.G499fs	ERCC4_uc010uyz.1_Frame_Shift_Del_p.G49fs	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	499					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			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						AAATGGTAGGAAAACCTGAAG	0.428			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				-	14029286	A	-	14029286	7	5	158	1	0	1	0	1	0	0	0	0	5215	233	9	0	1527	0	ERCC4	16	14029286	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	8809	14029286	76325467	2206	85987											
MYH11	4629	broad.mit.edu	37	chr16	15814019	15814019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacccacctgcagtttgcGtagctgcttgatggcttcct	10	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:15814019G>A	uc002ddy.2	-	34	5049	c.4942C>T	c.(4942-4944)CGC>TGC	p.R1648C	MYH11_uc002ddv.2_Missense_Mutation_p.R1655C|MYH11_uc002ddw.2_Missense_Mutation_p.R1648C|MYH11_uc002ddx.2_Missense_Mutation_p.R1655C|MYH11_uc010bvg.2_Missense_Mutation_p.R1480C|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.R354C|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1648	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TGCAGTTTGCGTAGCTGCTTG	0.612			T	CBFB	AML								A	15814019	G	A	15814019	3	1	158	1	0	0	0	0	1	0	0	0	10031	1145	40	1	1043	1	MYH11	16	15814019	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1784733	15814019	74540734	2207	85988											
MYH11	4629	broad.mit.edu	37	chr16	15818530	15818530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgagagtggagatgtggcGctccaggttctgcttggcct	16	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:15818530G>A	uc002ddy.2	-	30	4197	c.4090C>T	c.(4090-4092)CGC>TGC	p.R1364C	MYH11_uc002ddv.2_Missense_Mutation_p.R1371C|MYH11_uc002ddw.2_Missense_Mutation_p.R1364C|MYH11_uc002ddx.2_Missense_Mutation_p.R1371C|MYH11_uc010bvg.2_Missense_Mutation_p.R1196C|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.R70C|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1364	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GAGATGTGGCGCTCCAGGTTC	0.602			T	CBFB	AML								A	15818530	G	A	15818530	3	1	158	1	0	0	0	0	1	0	0	0	10031	1087	38	1	1911	1	MYH11	16	15818530	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4511	15818530	74536223	2208	85989											
ABCC1	4363	broad.mit.edu	37	chr16	16208889	16208889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccacgcccatcgccGccatcatcatcccgcccctt	7	21	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:16208889G>A	uc010bvi.2	+	23	3521	c.3346G>A	c.(3346-3348)GCC>ACC	p.A1116T	ABCC1_uc010bvj.2_Missense_Mutation_p.A1057T|ABCC1_uc010bvk.2_Missense_Mutation_p.A1060T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1116T|ABCC1_uc010bvm.2_Missense_Mutation_p.A1001T|ABCC1_uc002del.3_Missense_Mutation_p.A1010T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1116	Helical; Name=15.|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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCCATCGCCGCCATCATCAT	0.547													A	16208889	G	A	16208889	3	1	158	1	0	0	0	0	1	0	0	0	49	1087	38	1	3436	1	ABCC1	16	16208889	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	390359	16208889	74145864	2209	85990											
XYLT1	64131	broad.mit.edu	37	chr16	17211773	17211773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacccaccggctcatccaTgggccccagaagacccccaa	7	19	1	2	rs145121977		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:17211773T>C	uc002dfa.2	-	11	2372	c.2287A>G	c.(2287-2289)ATG>GTG	p.M763V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	763	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GGCTCATCCATGGGCCCCAGA	0.572													C	17211773	T	C	17211773	3	2	158	1	0	0	0	0	1	0	0	0	17460	1464	51	3	600	3	XYLT1	16	17211773	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1002884	17211773	73142980	2210	85991											
SMG1	23049	broad.mit.edu	37	chr16	18890990	18890990	+	Frame_Shift_Del	DEL	A	A	-													agctgtcaacacagcctcagAaaaaaacacctggtttgcag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:18890990delA	uc002dfm.2	-	11	1708	c.1345delT	c.(1345-1347)TCTfs	p.S449fs	SMG1_uc010bwb.2_Frame_Shift_Del_p.S309fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	449	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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ACAGCCTCAGAAAAAAACACC	0.428													-	18890990	A	-	18890990	7	5	158	1	0	1	0	1	0	0	0	0	14795	246	9	0	9852	0	SMG1	16	18890990	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1679217	18890990	71463763	2211	85992											
CP110	9738	broad.mit.edu	37	chr16	19548632	19548632	+	Frame_Shift_Del	DEL	A	A	-													ctgaataagtcttatgatgtAaaaaacccttctcctttatt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:19548632delA	uc002dgl.3	+	4	1888	c.1641delA	c.(1639-1641)GTAfs	p.V547fs	CP110_uc002dgk.3_Frame_Shift_Del_p.V547fs			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	547	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						CTTATGATGTAAAAAACCCTT	0.393													-	19548632	A	-	19548632	7	5	158	1	0	1	0	1	0	0	0	0	3788	349	13	0	1651	0	CP110	16	19548632	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	657642	19548632	70806121	2212	85993											
C16orf88	400506	broad.mit.edu	37	chr16	19725742	19725742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttcccattgtgttctcTggggctcttccgcttccgtt	8	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:19725742T>C	uc002dgq.2	-	2	631	c.616A>G	c.(616-618)AGA>GGA	p.R206G	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	206	Lys-rich.					nucleolus					0						TTGTGTTCTCTGGGGCTCTTC	0.582													C	19725742	T	C	19725742	3	2	158	1	0	0	0	0	1	0	0	0	1841	1588	55	3	776	3	C16orf88	16	19725742	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	177110	19725742	70629011	2213	85994											
UMOD	7369	broad.mit.edu	37	chr16	20360287	20360287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctaagcccaggctcagcGcactcatccacgtctgtgca	10	15	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20360287G>A	uc002dgz.2	-	3	465	c.336C>T	c.(334-336)TGC>TGT	p.C112C	UMOD_uc002dha.2_Silent_p.C112C|UMOD_uc002dhb.2_Silent_p.C145C	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	112	EGF-like 3; calcium-binding (Potential).				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			ovary(1)|skin(1)	2						CAGGCTCAGCGCACTCATCCA	0.652													A	20360287	G	A	20360287	2	1	158	1	0	0	0	0	0	0	0	1	16976	1079	38	1		1	UMOD	16	20360287	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	634545	20360287	69994466	2214	85995											
PDILT	204474	broad.mit.edu	37	chr16	20410548	20410548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgctggaaacaccggcGttaacctctggtgagctgtg	14	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20410548G>A	uc002dhc.1	-	2	298	c.75C>T	c.(73-75)AAC>AAT	p.N25N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	25					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AAACACCGGCGTTAACCTCTG	0.607													A	20410548	G	A	20410548	2	1	158	1	0	0	0	0	0	0	0	1	11674	1136	40	1		1	PDILT	16	20410548	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	50261	20410548	69944205	2215	85996											
ACSM2A	123876	broad.mit.edu	37	chr16	20477014	20477014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgccccgagtgcctgAgtggtggctggtgatcctgg	18	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20477014A>G	uc010bwe.2	+	4	592	c.353A>G	c.(352-354)GAG>GGG	p.E118G	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.E39G|ACSM2A_uc002dhf.3_Missense_Mutation_p.E118G|ACSM2A_uc002dhg.3_Missense_Mutation_p.E118G|ACSM2A_uc010vay.1_Missense_Mutation_p.E39G	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	118					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CGAGTGCCTGAGTGGTGGCTG	0.567													G	20477014	A	G	20477014	3	3	158	1	0	0	0	0	1	0	0	0	183	304	11	3	359	3	ACSM2A	16	20477014	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	66466	20477014	69877739	2216	85997											
THUMPD1	55623	broad.mit.edu	37	chr16	20752923	20752923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcatattgcaggtgatgaGgatgccctgtagcccgggct	14	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20752923G>T	uc002dho.2	-	1	277	c.139C>A	c.(139-141)CTC>ATC	p.L47I	THUMPD1_uc002dhp.2_Missense_Mutation_p.L47I	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	47											0						CAGGTGATGAGGATGCCCTGT	0.627													T	20752923	G	T	20752923	3	4	158	1	0	0	0	0	1	0	0	0	15879	1000	35	5	938	5	THUMPD1	16	20752923	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	275909	20752923	69601830	2217	85998											
DNAH3	55567	broad.mit.edu	37	chr16	20944658	20944658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgatgcagaaacattgCgctctccccaggtttcagcc	9	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20944658C>T	uc010vbe.1	-	62	12169	c.12169G>A	c.(12169-12171)GCA>ACA	p.A4057T	DNAH3_uc010vbd.1_Missense_Mutation_p.A1492T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4057					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGAAACATTGCGCTCTCCCCA	0.522													T	20944658	C	T	20944658	3	4	158	1	0	0	0	0	1	0	0	0	4603	768	27	1	184	1	DNAH3	16	20944658	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	191735	20944658	69410095	2218	85999											
DNAH3	55567	broad.mit.edu	37	chr16	21049197	21049197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcttcaggtttcctgcGgcagtaagcacagacttgac	11	10	1	3	rs147624987		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:21049197G>A	uc010vbe.1	-	34	4836	c.4836C>T	c.(4834-4836)GCC>GCT	p.A1612A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1612	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GGTTTCCTGCGGCAGTAAGCA	0.527													A	21049197	G	A	21049197	2	1	158	1	0	0	0	0	0	0	0	1	4603	1103	39	1		1	DNAH3	16	21049197	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	104539	21049197	69305556	2219	86000											
OTOA	146183	broad.mit.edu	37	chr16	21716605	21716605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggggcttccaggctggcGtccagaaggtacagctgggg	18	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:21716605G>A	uc002djh.2	+	11	1097	c.1096G>A	c.(1096-1098)GTC>ATC	p.V366I	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.V287I|OTOA_uc002dji.2_Missense_Mutation_p.V42I|OTOA_uc010vbk.1_Missense_Mutation_p.V14I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	380					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CCAGGCTGGCGTCCAGAAGGT	0.547													A	21716605	G	A	21716605	3	1	158	1	0	0	0	0	1	0	0	0	11302	1145	40	1	1184	1	OTOA	16	21716605	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	667408	21716605	68638148	2220	86001											
USP31	57478	broad.mit.edu	37	chr16	23079695	23079695	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaggctgtcttgccaAgatccgtcgagcgccgggtt	14	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:23079695A>C	uc002dll.2	-	16	3731	c.3731T>G	c.(3730-3732)CTT>CGT	p.L1244R	USP31_uc002dlk.2_Missense_Mutation_p.L516R|USP31_uc010vca.1_Missense_Mutation_p.L547R|USP31_uc010bxm.2_Missense_Mutation_p.L532R	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGTCTTGCCAAGATCCGTCGA	0.542													C	23079695	A	C	23079695	3	2	158	1	0	0	0	0	1	0	0	0	17059	72	3	5	331	5	USP31	16	23079695	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1363090	23079695	67275058	2221	86002											
PALB2	79728	broad.mit.edu	37	chr16	23641270	23641270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccttgagggccaaaggcTggagtagtacctaagatggg	16	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:23641270T>C	uc002dlx.1	-	5	2405	c.2205A>G	c.(2203-2205)CCA>CCG	p.P735P		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	735					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GGCCAAAGGCTGGAGTAGTAC	0.458			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				C	23641270	T	C	23641270	2	2	158	1	0	0	0	0	0	0	0	1	11406	1567	55	3		3	PALB2	16	23641270	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	561575	23641270	66713483	2222	86003											
RBBP6	5930	broad.mit.edu	37	chr16	24582804	24582804	+	Frame_Shift_Del	DEL	A	A	-													acttcactcccaatagagacAaaaaaactgactatgacacc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:24582803_24582803CA>C	uc002dmh.3	+	17	5456	c.4416_4416CA>C	c.(4414-4416)gacfs	p.D1472fs	RBBP6_uc002dmi.3_Frame_Shift_Del_p.D1438fs|RBBP6_uc010bxr.3_Frame_Shift_Del_p.D632fs|RBBP6_uc002dmk.3_Frame_Shift_Del_p.D1305fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1472	Interaction with p53 (By similarity).				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)		CCAATAGAGACAAAAAAACTG	0.368													-	24582804	A	-	24582804	7	5	158	1	0	1	0	1	0	0	0	0	13103	131	5	0	4541	0	RBBP6	16	24582804	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	941534	24582804	65771949	2223	86004											
TNRC6A	27327	broad.mit.edu	37	chr16	24788440	24788440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagccacagccgcagcCgcagcagcagcagccacagc	12	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:24788440C>A	uc002dmm.2	+	5	464	c.350C>A	c.(349-351)CCG>CAG	p.P117Q	TNRC6A_uc010bxs.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	117	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		cagccgcagccgcagcagcag	0.244													A	24788440	C	A	24788440	3	1	158	1	0	0	0	0	1	0	0	0	16337	652	23	5	368	5	TNRC6A	16	24788440	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	205636	24788440	65566313	2224	86005											
TNRC6A	27327	broad.mit.edu	37	chr16	24805922	24805922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgccattgcctggaaatcGccccactggctgggaagagg	13	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:24805922G>T	uc002dmm.2	+	8	3524	c.3410G>T	c.(3409-3411)CGC>CTC	p.R1137L	TNRC6A_uc010bxs.2_Missense_Mutation_p.R884L|TNRC6A_uc010vcc.1_Missense_Mutation_p.R884L|TNRC6A_uc002dmn.2_Missense_Mutation_p.R884L|TNRC6A_uc002dmo.2_Missense_Mutation_p.R825L	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1137	Sufficient for interaction with EIF2C1 and EIF2C4.|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			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCTGGAAATCGCCCCACTGGC	0.408													T	24805922	G	T	24805922	3	4	158	1	0	0	0	0	1	0	0	0	16337	1087	38	5	3440	5	TNRC6A	16	24805922	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	17482	24805922	65548831	2225	86006											
IL4R	3566	broad.mit.edu	37	chr16	27374237	27374237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacccactgctggccagaCacctggaggaagtagaaccc	11	14	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:27374237C>T	uc002don.2	+	11	1806	c.1564C>T	c.(1564-1566)CAC>TAC	p.H522Y	IL4R_uc002dop.3_Missense_Mutation_p.H507Y|IL4R_uc010bxy.2_Missense_Mutation_p.H522Y|IL4R_uc002doo.2_Missense_Mutation_p.H362Y	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	522	Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.				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			ovary(1)|skin(1)	2						GCTGGCCAGACACCTGGAGGA	0.622													T	27374237	C	T	27374237	3	4	158	1	0	0	0	0	1	0	0	0	7698	478	17	4	1616	4	IL4R	16	27374237	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2568315	27374237	62980516	2226	86007											
GTF3C1	2975	broad.mit.edu	37	chr16	27476039	27476039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttctctctggatgtcgGcgtcttctctgtctttcagc	10	12	7	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:27476039G>A	uc002dov.1	-	34	5514	c.5474C>T	c.(5473-5475)GCC>GTC	p.A1825V	GTF3C1_uc002dou.2_Missense_Mutation_p.A1825V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1825						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTGGATGTCGGCGTCTTCTCT	0.672													A	27476039	G	A	27476039	3	1	158	1	0	0	0	0	1	0	0	0	6872	1203	42	2	871	2	GTF3C1	16	27476039	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	101802	27476039	62878714	2227	86008											
SH2B1	25970	broad.mit.edu	37	chr16	28878287	28878287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagtggcagaagtgtcGcctgctgcttcgaagtgaag	14	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28878287G>A	uc002dri.2	+	4	1311	c.872G>A	c.(871-873)CGC>CAC	p.R291H	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.R291H|SH2B1_uc002drk.2_Missense_Mutation_p.R291H|SH2B1_uc002drl.2_Missense_Mutation_p.R291H|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.R291H|SH2B1_uc002drm.2_Missense_Mutation_p.R291H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	291	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						CAGAAGTGTCGCCTGCTGCTT	0.657													A	28878287	G	A	28878287	3	1	158	1	0	0	0	0	1	0	0	0	14227	1087	38	1	874	1	SH2B1	16	28878287	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1402248	28878287	61476466	2228	86009											
ATP2A1	487	broad.mit.edu	37	chr16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C													acctggacatcatggaccgcINScccccccggagccccaagga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|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	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|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						ATCATGGACCGCCCCCCCCGGA	0.658													C	28913641	-	C	28913640	7	5	158	1	0	1	1	0	0	0	0	0	1136	726	26	0	2523	0	ATP2A1	16	28913640	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	35353	28913640	61441113	2229	86010											
CD19	930	broad.mit.edu	37	chr16	28944726	28944726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatgtgggtaatggagaCgggtctgttgttgccccggg	17	6	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28944726C>T	uc002drs.2	+	4	793	c.731C>T	c.(730-732)ACG>ATG	p.T244M	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.T244M	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	244	Extracellular (Potential).|Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						GTAATGGAGACGGGTCTGTTG	0.577													T	28944726	C	T	28944726	3	4	158	1	0	0	0	0	1	0	0	0	2973	536	19	1	745	1	CD19	16	28944726	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	31086	28944726	61410027	2230	86011											
SPNS1	83985	broad.mit.edu	37	chr16	28993318	28993318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcctgctgcgttcccgCgtggtccttggggagacccc	13	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28993318C>T	uc010vdi.1	+	8	1046	c.906C>T	c.(904-906)CGC>CGT	p.R302R	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.R229R|SPNS1_uc002dsa.2_Silent_p.R302R|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|SPNS1_uc010byq.1_Silent_p.R234R|LAT_uc010vdj.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	302					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						TGCGTTCCCGCGTGGTCCTTG	0.657											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28993318	C	T	28993318	2	4	158	1	0	0	0	0	0	0	0	1	15073	755	27	1		1	SPNS1	16	28993318	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	48592	28993318	61361435	2231	86012											
SPNS1	83985	broad.mit.edu	37	chr16	28995158	28995158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttcttgtccgagttcCgggctctgcagttctcgctc	9	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28995158C>T	uc010vdi.1	+	12	1512	c.1372C>T	c.(1372-1374)CGG>TGG	p.R458W	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R385W|SPNS1_uc002dsa.2_Missense_Mutation_p.R458W|SPNS1_uc002drz.2_Missense_Mutation_p.R406W|SPNS1_uc010byp.2_Missense_Mutation_p.R384W|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	458					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GTCCGAGTTCCGGGCTCTGCA	0.652													T	28995158	C	T	28995158	3	4	158	1	0	0	0	0	1	0	0	0	15073	643	23	1	1414	1	SPNS1	16	28995158	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1840	28995158	61359595	2232	86013											
MVP	9961	broad.mit.edu	37	chr16	29845333	29845333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcagaaccaggctctgCggctcagggcccgcaaggag	15	13	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:29845333C>T	uc002dui.2	+	5	607	c.523C>T	c.(523-525)CGG>TGG	p.R175W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R175W|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	175	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CCAGGCTCTGCGGCTCAGGGC	0.647													T	29845333	C	T	29845333	3	4	158	1	0	0	0	0	1	0	0	0	9996	759	27	1	537	1	MVP	16	29845333	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	850175	29845333	60509420	2233	86014											
MVP	9961	broad.mit.edu	37	chr16	29847044	29847044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagaatggctggtcacCacagtaggggcgtacctccc	15	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:29847044C>T	uc002dui.2	+	6	681	c.597C>T	c.(595-597)ACC>ACT	p.T199T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Silent_p.T199T|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	199	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GGCTGGTCACCACAGTAGGGG	0.612													T	29847044	C	T	29847044	2	4	158	1	0	0	0	0	0	0	0	1	9996	581	21	4		4	MVP	16	29847044	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1711	29847044	60507709	2234	86015											
KCTD13	253980	broad.mit.edu	37	chr16	29923364	29923364	+	Frame_Shift_Del	DEL	T	T	-													cagcggggacagcgtctcccTtttttgctggggaagaagcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:29923364delT	uc002duv.2	-	3	612	c.421delA	c.(421-423)AGGfs	p.R141fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	141					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				0						AGCGTCTCCCTTTTTTGCTGG	0.448													-	29923364	T	-	29923364	7	5	158	1	0	1	0	1	0	0	0	0	8100	1608	56	0	584	0	KCTD13	16	29923364	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	76320	29923364	60431389	2235	86016											
ITGAL	3683	broad.mit.edu	37	chr16	30486631	30486631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagatttctcaccagggtcAtcgtgggagctccaggggag	15	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30486631A>G	uc002dyi.3	+	3	345	c.169A>G	c.(169-171)ATC>GTC	p.I57V	ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Missense_Mutation_p.I57V|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	57	FG-GAP 1.|Extracellular (Potential).				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			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CACCAGGGTCATCGTGGGAGC	0.567													G	30486631	A	G	30486631	3	3	158	1	0	0	0	0	1	0	0	0	7886	217	8	3	179	3	ITGAL	16	30486631	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	563267	30486631	59868122	2236	86017											
ZNF785	146540	broad.mit.edu	37	chr16	30594513	30594513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagaagggccgctcccCggagtggacccgctggtggc	18	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30594513C>T	uc002dyw.1	-	3	664	c.586G>A	c.(586-588)GGG>AGG	p.G196R	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.G181R|ZNF785_uc010vez.1_Missense_Mutation_p.G161R	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCCGCTCCCCGGAGTGGACC	0.652													T	30594513	C	T	30594513	3	4	158	1	0	0	0	0	1	0	0	0	18154	652	23	1	635	1	ZNF785	16	30594513	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	107882	30594513	59760240	2237	86018											
SRCAP	10847	broad.mit.edu	37	chr16	30723043	30723043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggaagagcctcctcaGgaggatagtagcagtcagtc	14	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30723043G>T	uc002dze.1	+	11	1855	c.1470G>T	c.(1468-1470)CAG>CAT	p.Q490H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Q347H|SRCAP_uc010bzz.1_Missense_Mutation_p.Q60H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	490	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGCCTCCTCAGGAGGATAGTA	0.537													T	30723043	G	T	30723043	3	4	158	1	0	0	0	0	1	0	0	0	15134	991	35	5	1504	5	SRCAP	16	30723043	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	128530	30723043	59631710	2238	86019											
SRCAP	10847	broad.mit.edu	37	chr16	30727671	30727671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcaacattttgatgcaGctgagaaaagtttgcaatca	8	7	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30727671G>A	uc002dze.1	+	18	3073	c.2688G>A	c.(2686-2688)CAG>CAA	p.Q896Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.Q753Q|SRCAP_uc010bzz.1_Silent_p.Q466Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	896					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TTTTGATGCAGCTGAGAAAAG	0.498													A	30727671	G	A	30727671	2	1	158	1	0	0	0	0	0	0	0	1	15134	962	34	2		2	SRCAP	16	30727671	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4628	30727671	59627082	2239	86020											
RNF40	9810	broad.mit.edu	37	chr16	30779269	30779269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcttcaaaaccacaaccAccagctaaaaggggacgccc	7	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30779269A>G	uc002dzq.2	+	12	1607	c.1484A>G	c.(1483-1485)CAC>CGC	p.H495R	RNF40_uc010caa.2_Missense_Mutation_p.H495R|RNF40_uc010cab.2_Missense_Mutation_p.H395R|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.H495R|RNF40_uc010vfb.1_Missense_Mutation_p.H187R|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	495	Potential.				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(1)	1			Colorectal(24;0.198)			AACCACAACCACCAGCTAAAA	0.537													G	30779269	A	G	30779269	3	3	158	1	0	0	0	0	1	0	0	0	13493	159	6	3	1526	3	RNF40	16	30779269	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	51598	30779269	59575484	2240	86021											
ZNF629	23361	broad.mit.edu	37	chr16	30795244	30795244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccctgcaccagctcccgCaggctgggctcgttggcggg	16	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30795244C>T	uc002dzs.1	-	3	613	c.405G>A	c.(403-405)CTG>CTA	p.L135L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CCAGCTCCCGCAGGCTGGGCT	0.697													T	30795244	C	T	30795244	2	4	158	1	0	0	0	0	0	0	0	1	18050	697	25	2		2	ZNF629	16	30795244	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	15975	30795244	59559509	2241	86022											
FBXL19	54620	broad.mit.edu	37	chr16	30941444	30941444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcggtgccgtccccGtccccgcagagggagaagct	15	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30941444G>A	uc002eab.2	+	7	1058	c.900G>A	c.(898-900)CCG>CCA	p.P300P	FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Silent_p.P199P	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	300	Pro-rich.						DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						TGCCGTCCCCGTCCCCGCAGA	0.612													A	30941444	G	A	30941444	2	1	158	1	0	0	0	0	0	0	0	1	5715	1132	40	1		1	FBXL19	16	30941444	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	146200	30941444	59413309	2242	86023											
ZNF646	9726	broad.mit.edu	37	chr16	31089161	31089161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtaccccaatctcatgGccctgcgcaaccacgtgcgg	10	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31089161G>A	uc002eap.2	+	2	1805	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	506	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CAATCTCATGGCCCTGCGCAA	0.637													A	31089161	G	A	31089161	3	1	158	1	0	0	0	0	1	0	0	0	18059	1203	42	2	1518	2	ZNF646	16	31089161	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	147717	31089161	59265592	2243	86024											
ZNF646	9726	broad.mit.edu	37	chr16	31091608	31091608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaccaccggcgcagccaCgagacgggccagtacagctg	13	15	0	2	rs137989174	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31091608C>T	uc002eap.2	+	2	4252	c.3963C>T	c.(3961-3963)CAC>CAT	p.H1321H		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1321	C2H2-type 23.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGCGCAGCCACGAGACGGGCC	0.682													T	31091608	C	T	31091608	2	4	158	1	0	0	0	0	0	0	0	1	18059	535	19	1		1	ZNF646	16	31091608	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2447	31091608	59263145	2244	86025											
ZNF646	9726	broad.mit.edu	37	chr16	31092372	31092372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccacaaagagccacaGccacaaccacatagacgccc	8	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31092372G>A	uc002eap.2	+	2	5016	c.4727G>A	c.(4726-4728)AGC>AAC	p.S1576N		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1576	C2H2-type 26.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						AAGAGCCACAGCCACAACCAC	0.562													A	31092372	G	A	31092372	3	1	158	1	0	0	0	0	1	0	0	0	18059	971	34	2	4729	2	ZNF646	16	31092372	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	764	31092372	59262381	2245	86026											
ZNF646	9726	broad.mit.edu	37	chr16	31092982	31092982	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgaatcagcttcgtgcagcaCcagcagcagcaccaggagga	12	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31092982C>G	uc002eap.2	+	2	5626	c.5337C>G	c.(5335-5337)CAC>CAG	p.H1779Q		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1779	C2H2-type 31.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TCGTGCAGCACCAGCAGCAGC	0.701													G	31092982	C	G	31092982	3	3	158	1	0	0	0	0	1	0	0	0	18059	506	18	5	5339	5	ZNF646	16	31092982	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	610	31092982	59261771	2246	86027											
PRSS36	146547	broad.mit.edu	37	chr16	31152924	31152924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagcctccagccgcagGccacaggctagggagaggag	17	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31152924G>A	uc002ebd.2	-	12	1826	c.1767C>T	c.(1765-1767)GGC>GGT	p.G589G	PRSS36_uc010vff.1_Silent_p.G364G|PRSS36_uc010vfg.1_Silent_p.G584G|PRSS36_uc010vfh.1_Silent_p.G589G	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	589					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						CCAGCCGCAGGCCACAGGCTA	0.687													A	31152924	G	A	31152924	2	1	158	1	0	0	0	0	0	0	0	1	12625	1190	42	2		2	PRSS36	16	31152924	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	59942	31152924	59201829	2247	86028											
ITGAM	3684	broad.mit.edu	37	chr16	31343009	31343009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagtgaagggggtccccCgggggccgaaccccagtagc	17	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31343009C>T	uc002ebq.2	+	30	3538	c.3440C>T	c.(3439-3441)CCG>CTG	p.P1147L	ITGAM_uc002ebr.2_Missense_Mutation_p.P1148L|ITGAM_uc010can.2_Missense_Mutation_p.P553L	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1147	Cytoplasmic (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GGGGGTCCCCCGGGGGCCGAA	0.662													T	31343009	C	T	31343009	3	4	158	1	0	0	0	0	1	0	0	0	7887	652	23	1	3561	1	ITGAM	16	31343009	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	190085	31343009	59011744	2248	86029											
GPT2	84706	broad.mit.edu	37	chr16	46943701	46943701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatctctgagctcgacGccatccaggtgaattactac	8	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:46943701G>A	uc002eel.2	+	6	776	c.682G>A	c.(682-684)GCC>ACC	p.A228T	GPT2_uc002eem.2_Missense_Mutation_p.A128T	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	228					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGAGCTCGACGCCATCCAGGT	0.582													A	46943701	G	A	46943701	3	1	158	1	0	0	0	0	1	0	0	0	6738	1087	38	1	700	1	GPT2	16	46943701	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	15600692	46943701	43411052	2249	86030											
PHKB	5257	broad.mit.edu	37	chr16	47630429	47630429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaagcactttatatcatCgcaaaactcctgggtaagtg	9	9	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:47630429C>T	uc002eev.3	+	13	1402	c.1350C>T	c.(1348-1350)ATC>ATT	p.I450I	PHKB_uc002eeu.3_Silent_p.I443I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	450					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTATATCATCGCAAAACTCC	0.363													T	47630429	C	T	47630429	2	4	158	1	0	0	0	0	0	0	0	1	11845	874	31	1		1	PHKB	16	47630429	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	686728	47630429	42724324	2250	86031											
PHKB	5257	broad.mit.edu	37	chr16	47684785	47684785	+	Frame_Shift_Del	DEL	A	A	-													tagatatgctggcagcccttAaaaaaggaataattggagga					rs35494330		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:47684784_47684784TA>T	uc002eev.4	+	19	1975	c.1923_1923TA>T	c.(1921-1923)cttfs	p.L641fs	PHKB_uc002eeu.4_Frame_Shift_Del_p.L634fs	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	641					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)				TGGCAGCCCTTAAAAAAGGAA	0.338													-	47684785	A	-	47684785	7	5	158	1	0	1	0	1	0	0	0	0	11845	363	13	0	2061	0	PHKB	16	47684785	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	54356	47684785	42669968	2251	86032											
ZNF423	23090	broad.mit.edu	37	chr16	49671548	49671548	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggggttggcgttgggGccgcagtgggagacgcggat	21	7	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:49671548G>T	uc002efs.2	-	5	1813	c.1515C>A	c.(1513-1515)GGC>GGA	p.G505G	ZNF423_uc010vgn.1_Silent_p.G388G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	505					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGGCGTTGGGGCCGCAGTGGG	0.567													T	49671548	G	T	49671548	2	4	158	1	0	0	0	0	0	0	0	1	17895	1190	42	5		5	ZNF423	16	49671548	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1986763	49671548	40683205	2252	86033											
ZNF423	23090	broad.mit.edu	37	chr16	49764730	49764730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcaggtctgccagagactCgaagtcctgctgacagtgat	12	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:49764730C>T	uc002efs.2	-	4	527	c.229G>A	c.(229-231)GAG>AAG	p.E77K		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	77	C2H2-type 1; degenerate.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCCAGAGACTCGAAGTCCTGC	0.527													T	49764730	C	T	49764730	3	4	158	1	0	0	0	0	1	0	0	0	17895	893	31	1	3649	1	ZNF423	16	49764730	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	93182	49764730	40590023	2253	86034											
ZNF423	23090	broad.mit.edu	37	chr16	49823441	49823441	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggccagcgagaagtctgaGgcctccccctcttcaactga	10	15	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:49823441G>T	uc002efs.2	-	3	331	c.33C>A	c.(31-33)GCC>GCA	p.A11A		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	11					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				AGAAGTCTGAGGCCTCCCCCT	0.582													T	49823441	G	T	49823441	2	4	158	1	0	0	0	0	0	0	0	1	17895	987	35	5		5	ZNF423	16	49823441	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	58711	49823441	40531312	2254	86035											
PAPD5	64282	broad.mit.edu	37	chr16	50259111	50259111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatgtagaagtaaaacctCggaatctcttagtaaacact	6	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:50259111C>T	uc010vgo.1	+	11	1705	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Intron|PAPD5_uc002ega.2_Missense_Mutation_p.S348L	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGTAAAACCTCGGAATCTCTT	0.383													T	50259111	C	T	50259111	3	4	158	1	0	0	0	0	1	0	0	0	11425	893	31	1	1712	1	PAPD5	16	50259111	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	435670	50259111	40095642	2255	86036											
SALL1	6299	broad.mit.edu	37	chr16	51175621	51175621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagagaggttgtgatcGctgaggtacctgtggaggag	19	4	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:51175621G>A	uc010vgs.1	-	2	543	c.512C>T	c.(511-513)GCG>GTG	p.A171V	SALL1_uc010vgr.1_Missense_Mutation_p.A74V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	171					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTTGTGATCGCTGAGGTACC	0.443													A	51175621	G	A	51175621	3	1	158	1	0	0	0	0	1	0	0	0	13810	1087	38	1	3470	1	SALL1	16	51175621	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	916510	51175621	39179132	2256	86037											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53692705	53692705	+	Frame_Shift_Del	DEL	T	T	-													tggttgtacaattttatgcgTtttttaagttcatcaagttg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:53692705delT	uc002ehp.2	-	11	1393	c.1329delA	c.(1327-1329)AAAfs	p.K443fs	RPGRIP1L_uc002eho.3_Frame_Shift_Del_p.K443fs|RPGRIP1L_uc010vgy.1_Frame_Shift_Del_p.K443fs|RPGRIP1L_uc010cbx.2_Frame_Shift_Del_p.K443fs|RPGRIP1L_uc010vgz.1_Frame_Shift_Del_p.K443fs	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	443	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				ATTTTATGCGTTTTTTAAGTT	0.274													-	53692705	T	-	53692705	7	5	158	1	0	1	0	1	0	0	0	0	13550	1722	60	0	2686	0	RPGRIP1L	16	53692705	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	2517084	53692705	36662048	2257	86038											
IRX5	10265	broad.mit.edu	37	chr16	54965339	54965339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccgcggccgccgccgccGccgccttctcctcgtacgtg	11	22	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:54965339G>A	uc002ehv.2	+	1	229	c.229G>A	c.(229-231)GCC>ACC	p.A77T	uc010vhb.1_5'Flank|uc010vhc.1_5'Flank|uc002ehu.1_5'Flank|IRX5_uc010cca.1_Missense_Mutation_p.A77T|IRX5_uc002ehw.2_5'Flank	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	77	Poly-Ala.			YGADPAAAAAAAFSSYV -> MAVETTVHTHLSASPPQ (in Ref. 2; AAB50002).	response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						cgccgccgccgccgccTTCTC	0.612													A	54965339	G	A	54965339	3	1	158	1	0	0	0	0	1	0	0	0	7847	1087	38	1	231	1	IRX5	16	54965339	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1272634	54965339	35389414	2258	86039											
IRX6	79190	broad.mit.edu	37	chr16	55360397	55360397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcgcgaccggagctgggCgccgccttgggcatctatgg	17	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55360397C>T	uc002ehy.2	+	2	728	c.195C>T	c.(193-195)GGC>GGT	p.G65G	IRX6_uc002ehx.2_Silent_p.G65G|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	65						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CGGAGCTGGGCGCCGCCTTGG	0.662													T	55360397	C	T	55360397	2	4	158	1	0	0	0	0	0	0	0	1	7848	755	27	1		1	IRX6	16	55360397	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	395058	55360397	34994356	2259	86040											
MMP2	4313	broad.mit.edu	37	chr16	55519616	55519616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgataccggccgcagCgatggcttcctctggtgctc	12	14	1	1	rs148801200	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55519616C>T	uc002ehz.3	+	5	1070	c.759C>T	c.(757-759)AGC>AGT	p.S253S	MMP2_uc010vhd.1_Silent_p.S177S|MMP2_uc010ccc.2_Silent_p.S203S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	253	Fibronectin type-II 1.|Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		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)	CCGGCCGCAGCGATGGCTTCC	0.547													T	55519616	C	T	55519616	2	4	158	1	0	0	0	0	0	0	0	1	9658	767	27	1		1	MMP2	16	55519616	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	159219	55519616	34835137	2260	86041											
MMP2	4313	broad.mit.edu	37	chr16	55523700	55523700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcgaccacagccaactacGatgatgaccgcaagtggggc	13	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55523700G>A	uc002ehz.3	+	7	1455	c.1144G>A	c.(1144-1146)GAT>AAT	p.D382N	MMP2_uc010vhd.1_Missense_Mutation_p.D306N|MMP2_uc010ccc.2_Missense_Mutation_p.D332N	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	382	Fibronectin type-II 3.|Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		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)	AGCCAACTACGATGATGACCG	0.572													A	55523700	G	A	55523700	3	1	158	1	0	0	0	0	1	0	0	0	9658	1058	37	1	1177	1	MMP2	16	55523700	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4084	55523700	34831053	2261	86042											
SLC6A2	6530	broad.mit.edu	37	chr16	55719063	55719063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgggcaggcgtggtgTcctgcaccttcacgagagca	13	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55719063T>C	uc002eif.2	+	5	764	c.653T>C	c.(652-654)GTC>GCC	p.V218A	SLC6A2_uc010ccd.2_Missense_Mutation_p.V218A|SLC6A2_uc002eig.2_Missense_Mutation_p.V218A|SLC6A2_uc002eih.2_Missense_Mutation_p.V218A|SLC6A2_uc002eii.2_Missense_Mutation_p.V113A|SLC6A2_uc002eij.2_5'UTR	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	218	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				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)	AGGCGTGGTGTCCTGCACCTT	0.592													C	55719063	T	C	55719063	3	2	158	1	0	0	0	0	1	0	0	0	14683	1667	58	3	758	3	SLC6A2	16	55719063	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	195363	55719063	34635690	2262	86043											
CES1	1066	broad.mit.edu	37	chr16	55866923	55866923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggactcaccccaagcCgcggaagcagagagagtggc	14	12	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55866923C>T	uc002eim.2	-	1	153	c.45G>A	c.(43-45)GCG>GCA	p.A15A	CES1_uc002eil.2_Silent_p.A15A|CES1_uc002ein.2_Silent_p.A15A	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	15					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CACCCCAAGCCGCGGAAGCAG	0.567													T	55866923	C	T	55866923	2	4	158	1	0	0	0	0	0	0	0	1	3269	639	23	1		1	CES1	16	55866923	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	147860	55866923	34487830	2263	86044											
NUP93	9688	broad.mit.edu	37	chr16	56782280	56782280	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggagatccagcaggcgggaGagcgcctgcgttcccgtacc	15	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:56782280G>T	uc002eka.2	+	2	242	c.121G>T	c.(121-123)GAG>TAG	p.E41*		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	41					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						GCAGGCGGGAGAGCGCCTGCG	0.577													T	56782280	G	T	56782280	4	4	158	1	0	0	0	0	0	1	0	0	10772	943	33	5	123	5	NUP93	16	56782280	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	915357	56782280	33572473	2264	86045											
CETP	1071	broad.mit.edu	37	chr16	57004961	57004961	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcctgggtggatcaagCagctgttcacaaatttcatc	10	10	4	0	rs142750310		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57004961C>T	uc002eki.2	+	6	601	c.544C>T	c.(544-546)CAG>TAG	p.Q182*	CETP_uc002ekj.2_Nonsense_Mutation_p.Q182*	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	182					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			central_nervous_system(1)|skin(1)	2						GTGGATCAAGCAGCTGTTCAC	0.468													T	57004961	C	T	57004961	4	4	158	1	0	0	0	0	0	1	0	0	3277	711	25	2	566	2	CETP	16	57004961	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	222681	57004961	33349792	2265	86046											
NLRC5	84166	broad.mit.edu	37	chr16	57059400	57059400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtccctccaatcctgcGccgggccacagcatccttag	8	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57059400G>A	uc002ekk.1	+	6	770	c.545G>A	c.(544-546)CGC>CAC	p.R182H	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_5'UTR|NLRC5_uc002ekl.2_5'UTR|NLRC5_uc002ekm.2_5'UTR|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	182					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CCAATCCTGCGCCGGGCCACA	0.627													A	57059400	G	A	57059400	3	1	158	1	0	0	0	0	1	0	0	0	10470	1087	38	1	559	1	NLRC5	16	57059400	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	54439	57059400	33295353	2266	86047											
RSPRY1	89970	broad.mit.edu	37	chr16	57255240	57255240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccttttgtgtggatgcCggggtatggtactatgaagt	14	6	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57255240C>T	uc002elb.2	+	10	1352	c.1074C>T	c.(1072-1074)GCC>GCT	p.A358A	RSPRY1_uc002elc.2_Silent_p.A358A|RSPRY1_uc002eld.2_Silent_p.A358A	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	358	B30.2/SPRY.					extracellular region	zinc ion binding			ovary(1)	1						GTGTGGATGCCGGGGTATGGT	0.488													T	57255240	C	T	57255240	2	4	158	1	0	0	0	0	0	0	0	1	13713	639	23	1		1	RSPRY1	16	57255240	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	195840	57255240	33099513	2267	86048											
ARL2BP	23568	broad.mit.edu	37	chr16	57282448	57282448	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attttccccactgtggttcaGatgacgagttccagttatta	8	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57282448G>A	uc002elf.1	+	3	343	c.101_splice	c.e3-1	p.D34_splice	ARL2BP_uc010ccy.1_Splice_Site|ARL2BP_uc010vhl.1_Splice_Site_p.D34_splice	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN	binder of Arl Two						maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity				0						CTGTGGTTCAGATGACGAGTT	0.353													A	57282448	G	A	57282448	5	1	158	1	0	0	0	0	0	0	1	0	934	956	33	4	110	4	ARL2BP	16	57282448	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	27208	57282448	33072305	2268	86049											
CCDC102A	92922	broad.mit.edu	37	chr16	57549292	57549292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcacttgcaggttctcgCtctgctccgtctgctcgtcc	10	15	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57549292C>A	uc002elw.2	-	8	1697	c.1484G>T	c.(1483-1485)AGC>ATC	p.S495I		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	495	Potential.									ovary(1)	1						CAGGTTCTCGCTCTGCTCCGT	0.652													A	57549292	C	A	57549292	3	1	158	1	0	0	0	0	1	0	0	0	2736	797	28	5	176	5	CCDC102A	16	57549292	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	266844	57549292	32805461	2269	86050											
KIFC3	3801	broad.mit.edu	37	chr16	57803606	57803606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgagggtccgcagtgcCggctgcaaggtcagcaagtt	16	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57803606C>T	uc002emp.2	-	9	1316	c.1119G>A	c.(1117-1119)CCG>CCA	p.P373P	KIFC3_uc010vhw.1_Silent_p.P271P|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Silent_p.P234P|KIFC3_uc010vhx.1_Silent_p.P234P|KIFC3_uc010cdf.2_Silent_p.P234P|KIFC3_uc002emo.3_Silent_p.P234P|KIFC3_uc010vhy.1_Silent_p.P315P|KIFC3_uc002emq.2_Silent_p.P373P|KIFC3_uc010vhz.1_Silent_p.P395P|KIFC3_uc002emr.1_Silent_p.P150P	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	373					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			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				TCCGCAGTGCCGGCTGCAAGG	0.687													T	57803606	C	T	57803606	2	4	158	1	0	0	0	0	0	0	0	1	8314	639	23	1		1	KIFC3	16	57803606	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	254314	57803606	32551147	2270	86051											
CNGB1	1258	broad.mit.edu	37	chr16	57918077	57918077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccccaccttactccgcCttctcctccctttcctccgg	3	23	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57918077C>A	uc002emt.2	-	33	3812	c.3747G>T	c.(3745-3747)AAG>AAT	p.K1249N	CNGB1_uc010cdh.2_Missense_Mutation_p.K1243N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1249	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CTTACTCCGCCTTCTCCTCCC	0.701													A	57918077	C	A	57918077	3	1	158	1	0	0	0	0	1	0	0	0	3600	680	24	5	12	5	CNGB1	16	57918077	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	114471	57918077	32436676	2271	86052											
CNGB1	1258	broad.mit.edu	37	chr16	57951309	57951309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaggggaaggcccagcGcacgggaatcagccaacagt	15	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57951309G>A	uc002emt.2	-	21	2094	c.2029C>T	c.(2029-2031)CGC>TGC	p.R677C	CNGB1_uc010cdh.2_Missense_Mutation_p.R671C	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	677	Extracellular (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						AAGGCCCAGCGCACGGGAATC	0.557													A	57951309	G	A	57951309	3	1	158	1	0	0	0	0	1	0	0	0	3600	1087	38	1	1778	1	CNGB1	16	57951309	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	33232	57951309	32403444	2272	86053											
ZNF319	57567	broad.mit.edu	37	chr16	58030907	58030907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggccgctcggccgcgccGggcaggcacttgtgccgcag	17	15	0	0	rs150126886		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58030907G>A	uc002emx.1	-	2	1886	c.1263C>T	c.(1261-1263)CCC>CCT	p.P421P		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	421	C2H2-type 11; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGCCGCGCCGGGCAGGCACT	0.662													A	58030907	G	A	58030907	2	1	158	1	0	0	0	0	0	0	0	1	17834	1103	39	1		1	ZNF319	16	58030907	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	79598	58030907	32323846	2273	86054											
GINS3	64785	broad.mit.edu	37	chr16	58438451	58438451	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggactcctcacagaatgctTacaacgaagacacttcagcc	7	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58438451T>A	uc002enh.3	+	3	677	c.469T>A	c.(469-471)TAC>AAC	p.Y157N	GINS3_uc010cdj.2_Missense_Mutation_p.Y196N|GINS3_uc002enj.3_Missense_Mutation_p.Y79N|GINS3_uc002eni.3_Nonsense_Mutation_p.L158*	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	157					DNA replication	nucleus					0						ACAGAATGCTTACAACGAAGA	0.498													A	58438451	T	A	58438451	3	1	158	1	0	0	0	0	1	0	0	0	6389	1754	61	5	600	5	GINS3	16	58438451	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	407544	58438451	31916302	2274	86055											
CNOT1	23019	broad.mit.edu	37	chr16	58594174	58594174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgtccttttggcataActccaggtggtggttgtctg	14	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58594174A>G	uc002env.2	-	17	2365	c.2072T>C	c.(2071-2073)GTT>GCT	p.V691A	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.V691A|CNOT1_uc002enx.2_Missense_Mutation_p.V691A|CNOT1_uc002enz.1_Missense_Mutation_p.V120A|SNORA50_uc002eoa.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	691					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTTGGCATAACTCCAGGTGG	0.423													G	58594174	A	G	58594174	3	3	158	1	0	0	0	0	1	0	0	0	3617	43	2	3	5412	3	CNOT1	16	58594174	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	155723	58594174	31760579	2275	86056											
CNOT1	23019	broad.mit.edu	37	chr16	58620474	58620474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcgtcttaagaaaagcGtctatctgttcttgtccaac	8	11	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58620474G>A	uc002env.2	-	7	905	c.612C>T	c.(610-612)GAC>GAT	p.D204D	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.D204D|CNOT1_uc002enx.2_Silent_p.D204D|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	204					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAAGAAAAGCGTCTATCTGTT	0.478													A	58620474	G	A	58620474	2	1	158	1	0	0	0	0	0	0	0	1	3617	1136	40	1		1	CNOT1	16	58620474	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	26300	58620474	31734279	2276	86057											
SLC38A7	55238	broad.mit.edu	37	chr16	58713974	58713974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgagcccgctccccGgcatccgtgctcaagtccca	10	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58713974G>A	uc002eod.1	-	3	450	c.57C>T	c.(55-57)GCC>GCT	p.A19A	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Silent_p.A19A|SLC38A7_uc010vil.1_Intron|SLC38A7_uc002eoe.1_Silent_p.A19A	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	19					amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						CCCGCTCCCCGGCATCCGTGC	0.622													A	58713974	G	A	58713974	2	1	158	1	0	0	0	0	0	0	0	1	14609	1103	39	1		1	SLC38A7	16	58713974	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	93500	58713974	31640779	2277	86058											
CBFB	865	broad.mit.edu	37	chr16	67070635	67070635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctagccgagagtatgtcGacttagaaagagaagcaggc	12	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67070635G>A	uc002era.2	+	3	520	c.259G>A	c.(259-261)GAC>AAC	p.D87N	CBFB_uc002erb.2_Missense_Mutation_p.D87N|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2	87					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGAGTATGTCGACTTAGAAAG	0.413			T	MYH11	AML								A	67070635	G	A	67070635	3	1	158	1	0	0	0	0	1	0	0	0	2699	1058	37	1	269	1	CBFB	16	67070635	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	8356661	67070635	23284118	2278	86059											
FHOD1	29109	broad.mit.edu	37	chr16	67271633	67271633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagtattctacaaacacCaacagcagcttcagggctgt	9	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67271633C>T	uc002esl.2	-	7	793	c.681G>A	c.(679-681)TTG>TTA	p.L227L	FHOD1_uc010ced.2_Silent_p.L34L|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	227	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTACAAACACCAACAGCAGCT	0.562													T	67271633	C	T	67271633	2	4	158	1	0	0	0	0	0	0	0	1	5882	593	21	4		4	FHOD1	16	67271633	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	200998	67271633	23083120	2279	86060											
SLC9A5	6553	broad.mit.edu	37	chr16	67286519	67286519	+	Frame_Shift_Del	DEL	G	G	-													ttttgctgggcctggtgctaGggggaattgttttggctgtg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67286518_67286518AG>A	uc002esm.3	+	1	324	c.261_261AG>A	c.(259-261)ctafs	p.L87fs	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	87					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)		GCCTGGTGCTAGGGGGAATTG	0.532													-	67286519	G	-	67286519	7	5	158	1	0	1	0	1	0	0	0	0	14717	1000	35	0	268	0	SLC9A5	16	67286519	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	14886	67286519	23068234	2280	86061											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477019	67477019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttgtagagggtgttgcGgatgatctcgatgttcatct	12	7	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67477019G>A	uc002ete.1	-	4	644	c.544C>T	c.(544-546)CGC>TGC	p.R182C	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.R223C|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.R105C	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	182					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					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AGGGTGTTGCGGATGATCTCG	0.562													A	67477019	G	A	67477019	3	1	158	1	0	0	0	0	1	0	0	0	1173	1116	39	1	531	1	ATP6V0D1	16	67477019	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	190500	67477019	22877734	2281	86062											
FAM65A	79567	broad.mit.edu	37	chr16	67576573	67576573	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacccatacccccacaagTcccacccacaaaaccagtat	2	21	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67576573T>C	uc010vjp.1	+	13	2040	c.1944T>C	c.(1942-1944)AGT>AGC	p.S648S	FAM65A_uc010cei.1_Silent_p.S470S|FAM65A_uc002eth.2_Silent_p.S628S|FAM65A_uc010cej.2_Silent_p.S631S|FAM65A_uc002eti.1_Silent_p.S591S|FAM65A_uc010vjq.1_Silent_p.S642S|FAM65A_uc002etj.1_Silent_p.S627S|FAM65A_uc002etk.2_Silent_p.S627S	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	632	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		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)		CCCCCACAAGTCCCACCCACA	0.572													C	67576573	T	C	67576573	2	2	158	1	0	0	0	0	0	0	0	1	5599	1664	58	3		3	FAM65A	16	67576573	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	99554	67576573	22778180	2282	86063											
RLTPR	146206	broad.mit.edu	37	chr16	67683419	67683419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcctactccgggccctaGccaccaatcctaacctgacc	7	19	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67683419G>A	uc002etn.2	+	20	1936	c.1816G>A	c.(1816-1818)GCC>ACC	p.A606T	RLTPR_uc010cel.1_Missense_Mutation_p.A599T|RLTPR_uc010vjr.1_Missense_Mutation_p.A570T	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	606	Tropomodulin-like.									breast(1)	1		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)		CCGGGCCCTAGCCACCAATCC	0.632													A	67683419	G	A	67683419	3	1	158	1	0	0	0	0	1	0	0	0	13394	971	34	2	1894	2	RLTPR	16	67683419	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	106846	67683419	22671334	2283	86064											
PARD6A	50855	broad.mit.edu	37	chr16	67695812	67695812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagaagctgactccagCggcctggcttttgcctccaa	11	14	0	2	rs144160135		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67695812C>T	uc002ett.2	+	3	394	c.303C>T	c.(301-303)AGC>AGT	p.S101S	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.S100S|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	101	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		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)		CTGACTCCAGCGGCCTGGCTT	0.612													T	67695812	C	T	67695812	2	4	158	1	0	0	0	0	0	0	0	1	11445	767	27	1		1	PARD6A	16	67695812	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	12393	67695812	22658941	2284	86065											
EDC4	23644	broad.mit.edu	37	chr16	67912273	67912273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacctgcaggtgtctgcacGagtggaaacctcatgatggg	13	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67912273G>A	uc002eur.2	+	9	1181	c.1015G>A	c.(1015-1017)GAG>AAG	p.E339K	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.E271K|EDC4_uc010ces.1_Missense_Mutation_p.E182K|EDC4_uc002eus.2_Missense_Mutation_p.E69K	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	339					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGTCTGCACGAGTGGAAACC	0.607													A	67912273	G	A	67912273	3	1	158	1	0	0	0	0	1	0	0	0	4908	1059	37	1	1049	1	EDC4	16	67912273	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	216461	67912273	22442480	2285	86066											
SLC12A4	6560	broad.mit.edu	37	chr16	67979106	67979106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacagcagtgtgcatgcgcCgcacattggattggtcccta	11	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67979106C>A	uc002euz.2	-	23	3191	c.3050G>T	c.(3049-3051)CGG>CTG	p.R1017L	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.R1011L|SLC12A4_uc010vkh.1_Missense_Mutation_p.R986L|SLC12A4_uc010vki.1_Missense_Mutation_p.R1011L|SLC12A4_uc010vkj.1_Missense_Mutation_p.R1019L|SLC12A4_uc002eva.2_Missense_Mutation_p.R1017L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	1017	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		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)	GTGCATGCGCCGCACATTGGA	0.582													A	67979106	C	A	67979106	3	1	158	1	0	0	0	0	1	0	0	0	14385	652	23	5	215	5	SLC12A4	16	67979106	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	66833	67979106	22375647	2286	86067											
PRMT7	54496	broad.mit.edu	37	chr16	68371434	68371434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgatcggggagggggCgctgccctcctatgagcacg	17	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68371434C>T	uc002evy.1	+	7	740	c.464C>T	c.(463-465)GCG>GTG	p.A155V	PRMT7_uc002evx.1_Missense_Mutation_p.A155V|PRMT7_uc010vlg.1_Missense_Mutation_p.A105V|PRMT7_uc002evz.1_Intron	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	155					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				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GGGGAGGGGGCGCTGCCCTCC	0.562													T	68371434	C	T	68371434	3	4	158	1	0	0	0	0	1	0	0	0	12541	768	27	1	482	1	PRMT7	16	68371434	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	392328	68371434	21983319	2287	86068											
CDH1	999	broad.mit.edu	37	chr16	68853293	68853293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgagcacgtgaagaacaGcacgtacacagccctaatca	8	11	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68853293G>A	uc002ewg.1	+	11	1800	c.1676G>A	c.(1675-1677)AGC>AAC	p.S559N	CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Missense_Mutation_p.S498N	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	559	Extracellular (Potential).|Cadherin 4.				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	p.S559N(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		GTGAAGAACAGCACGTACACA	0.542			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68853293	G	A	68853293	3	1	158	1	0	0	0	0	1	0	0	0	3095	971	34	2	1718	2	CDH1	16	68853293	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	481859	68853293	21501460	2288	86069											
TMCO7	79613	broad.mit.edu	37	chr16	68877538	68877538	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcatggcggcccgacaggcCgtgggcagcggggctcagga	19	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68877538C>A	uc002ewi.3	+	1	30	c.18C>A	c.(16-18)GCC>GCA	p.A6A	TMCO7_uc002ewh.2_Silent_p.A6A	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	6						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CCCGACAGGCCGTGGGCAGCG	0.677													A	68877538	C	A	68877538	2	1	158	1	0	0	0	0	0	0	0	1	15998	639	23	5		5	TMCO7	16	68877538	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	24245	68877538	21477215	2289	86070											
TMCO7	79613	broad.mit.edu	37	chr16	68936256	68936256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccaagaaatcttattaTggattctggggaagctggaa	11	5	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68936256T>C	uc002ewi.3	+	9	1528	c.1516T>C	c.(1516-1518)TGG>CGG	p.W506R		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	506						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AATCTTATTATGGATTCTGGG	0.423													C	68936256	T	C	68936256	3	2	158	1	0	0	0	0	1	0	0	0	15998	1464	51	3	1550	3	TMCO7	16	68936256	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	58718	68936256	21418497	2290	86071											
TERF2	7014	broad.mit.edu	37	chr16	69402283	69402283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcatctttttaccttgCgggttctctgggtggctttt	12	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:69402283C>T	uc002exd.2	-	6	942	c.817G>A	c.(817-819)GCA>ACA	p.A273T		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	273					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			lung(1)	1		Ovarian(137;0.101)				TTTTACCTTGCGGGTTCTCTG	0.522													T	69402283	C	T	69402283	3	4	158	1	0	0	0	0	1	0	0	0	15759	768	27	1	705	1	TERF2	16	69402283	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	466027	69402283	20952470	2291	86072											
CYB5B	80777	broad.mit.edu	37	chr16	69458545	69458545	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagcgcgggctctcaaGgaaagtagtcgcggaatctc	15	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:69458545G>T	uc002exg.1	+	1	48	c.-41G>T	c.(-43--39)AAGGA>AATGA		CYB5B_uc002exf.2_Translation_Start_Site|CYB5B_uc010cfl.1_Translation_Start_Site	NM_030579	NP_085056	O43169	CYB5B_HUMAN	cytochrome b5 outer mitochondrial membrane						electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding				0		Ovarian(137;0.101)				GGGCTCTCAAGGAAAGTAGTC	0.572													T	69458545	G	T	69458545	1	4	158	1	0	0	0	0	0	0	0	0	4123	1015	35	5		5	CYB5B	16	69458545	Translation_Start_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	56262	69458545	20896208	2292	86073											
NQO1	1728	broad.mit.edu	37	chr16	69752129	69752129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagactcggcaggatacTgaaagttcgcagggtccttc	12	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:69752129T>G	uc002exp.2	-	3	391	c.200A>C	c.(199-201)CAG>CCG	p.Q67P	NQO1_uc010cfm.2_Missense_Mutation_p.Q46P|NQO1_uc002exq.2_Missense_Mutation_p.Q67P|NQO1_uc002exr.2_Missense_Mutation_p.Q67P|NQO1_uc010vll.1_Missense_Mutation_p.Q67P	NM_000903	NP_000894	P15559	NQO1_HUMAN	NAD(P)H menadione oxidoreductase 1,	67		FAD.			nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity				0					Dicumarol(DB00266)|Menadione(DB00170)	GGCAGGATACTGAAAGTTCGC	0.522													G	69752129	T	G	69752129	3	3	158	1	0	0	0	0	1	0	0	0	10611	1580	55	5	640	5	NQO1	16	69752129	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	293584	69752129	20602624	2293	86074											
CLEC18A	348174	broad.mit.edu	37	chr16	70219849	70219850	+	Frame_Shift_Ins	INS	-	-	A													ctggaacaaccagcgctgcaINSaaacccgaaaccgttacatc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70219848_70219849C>CA	uc002exy.3	+	11	1392_1393	c.1272_1273C>CA	c.(1270-1275)tgcaaafs	p.C424fs	CLEC18A_uc002eyk.3_Frame_Shift_Ins_p.C424fs	NM_182619	NP_872425	A5D8T8	CL18A_HUMAN	Homo sapiens C-type lectin domain family 18, member A (CLEC18A), transcript variant 1, mRNA.	424	C-type lectin.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						ACCAGCGCTGCAAAACCCGAAA	0.589													A	70219850	-	A	70219849	7	5	158	1	0	1	1	0	0	0	0	0	3502	131	5	0		0	CLEC18A	16	70219849	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	467720	70219849	20134904	2294	86075											
AARS	16	broad.mit.edu	37	chr16	70294991	70294991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccccactttcaggtcacCgtagatggttccaatgtgta	8	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70294991C>T	uc002eyn.1	-	13	1851	c.1741G>A	c.(1741-1743)GGT>AGT	p.G581S	AARS_uc010vlu.1_Missense_Mutation_p.G411S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	581					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTCAGGTCACCGTAGATGGTT	0.463													T	70294991	C	T	70294991	3	4	158	1	0	0	0	0	1	0	0	0	19	652	23	1	1201	1	AARS	16	70294991	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	75142	70294991	20059762	2295	86076											
ST3GAL2	6483	broad.mit.edu	37	chr16	70428933	70428933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccatagccagagcccCgcaggttgcccgagttcccc	10	19	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70428933C>T	uc002eyw.2	-	2	2593	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	ST3GAL2_uc002eyx.2_Missense_Mutation_p.R162Q	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	162	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GCCAGAGCCCCGCAGGTTGCC	0.667													T	70428933	C	T	70428933	3	4	158	1	0	0	0	0	1	0	0	0	15214	652	23	1	587	1	ST3GAL2	16	70428933	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	133942	70428933	19925820	2296	86077											
MTSS1L	92154	broad.mit.edu	37	chr16	70698263	70698263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagttctgggcgatgttgcTgttgcgcgggatggtggatg	19	5	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70698263T>C	uc002ezj.2	-	15	1821	c.1561A>G	c.(1561-1563)AGC>GGC	p.S521G		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	521					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GCGATGTTGCTGTTGCGCGGG	0.682													C	70698263	T	C	70698263	3	2	158	1	0	0	0	0	1	0	0	0	9963	1580	55	3	686	3	MTSS1L	16	70698263	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	269330	70698263	19656490	2297	86078											
ZNF821	55565	broad.mit.edu	37	chr16	71898146	71898146	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattcaaattccctgtgacCtgtgattcaacaaataggca	7	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:71898146C>A	uc010vmj.1	-	5	689	c.313_splice	c.e5-1	p.V105_splice	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Splice_Site|ZNF821_uc002fbf.2_Splice_Site_p.V63_splice|ZNF821_uc002fbg.3_Splice_Site|ZNF821_uc002fbh.3_Splice_Site_p.V63_splice|ZNF821_uc002fbi.3_Intron	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCCCTGTGACCTGTGATTCAA	0.493													A	71898146	C	A	71898146	5	1	158	1	0	0	0	0	0	0	1	0	18175	695	24	5	938	5	ZNF821	16	71898146	Splice_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1199883	71898146	18456607	2298	86079											
ZFHX3	463	broad.mit.edu	37	chr16	72821566	72821566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcctccccacagagcgCgctctcgcacgccaggcagt	10	18	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72821566C>T	uc002fck.2	-	10	11282	c.10609G>A	c.(10609-10611)GCG>ACG	p.A3537T	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.A2623T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3537	C2H2-type 22.				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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CCACAGAGCGCGCTCTCGCAC	0.398													T	72821566	C	T	72821566	3	4	158	1	0	0	0	0	1	0	0	0	17631	768	27	1	506	1	ZFHX3	16	72821566	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	923420	72821566	17533187	2299	86080											
ZFHX3	463	broad.mit.edu	37	chr16	72829504	72829504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattttggctgtcgtcctgCccctcctcatcctcatcctt	5	17	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72829504C>T	uc002fck.2	-	9	7750	c.7077G>A	c.(7075-7077)GGG>GGA	p.G2359G	ZFHX3_uc002fcl.2_Silent_p.G1445G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2359					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGTCGTCCTGCCCCTCCTCAT	0.512													T	72829504	C	T	72829504	2	4	158	1	0	0	0	0	0	0	0	1	17631	726	26	2		2	ZFHX3	16	72829504	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	7938	72829504	17525249	2300	86081											
ZFHX3	463	broad.mit.edu	37	chr16	72831385	72831385	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttgttgttgttgTtgctgttgctgctgctgttg	14	4	0	0	rs76691369		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72831385T>C	uc002fck.2	-	9	5869	c.5196A>G	c.(5194-5196)CAA>CAG	p.Q1732Q	ZFHX3_uc002fcl.2_Silent_p.Q818Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1732	Poly-Gln.				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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				gttgttgttgttgctgttgct	0.413													C	72831385	T	C	72831385	2	2	158	1	0	0	0	0	0	0	0	1	17631	1722	60	3		3	ZFHX3	16	72831385	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1881	72831385	17523368	2301	86082											
ZFHX3	463	broad.mit.edu	37	chr16	72831705	72831705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctccagcttggctgCccgggccttggtttgatgta	13	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72831705C>T	uc002fck.2	-	9	5549	c.4876G>A	c.(4876-4878)GCA>ACA	p.A1626T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A712T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1626					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AGCTTGGCTGCCCGGGCCTTG	0.527													T	72831705	C	T	72831705	3	4	158	1	0	0	0	0	1	0	0	0	17631	739	26	2	6243	2	ZFHX3	16	72831705	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	320	72831705	17523048	2302	86083											
LDHD	197257	broad.mit.edu	37	chr16	75149237	75149237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcatcaggaggttcgcaCctagaaccagaccctcagcg	10	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:75149237C>T	uc002fdm.2	-	3	233	c.186G>A	c.(184-186)AGG>AGA	p.R62R	LDHD_uc002fdn.2_Silent_p.R62R	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	62	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						GAGGTTCGCACCTAGAACCAG	0.627													T	75149237	C	T	75149237	2	4	158	1	0	0	0	0	0	0	0	1	8703	521	18	4		4	LDHD	16	75149237	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2317532	75149237	15205516	2303	86084											
ZFP1	162239	broad.mit.edu	37	chr16	75203207	75203207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaaacccagacgagcagGcgaggcaatttttaattctt	9	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:75203207G>A	uc002fdo.2	+	4	363	c.199G>A	c.(199-201)GCG>ACG	p.A67T	ZFP1_uc002fdp.2_Missense_Mutation_p.A12T|ZFP1_uc010cgt.2_Missense_Mutation_p.A34T|ZFP1_uc010cgs.2_Missense_Mutation_p.A12T|ZFP1_uc002fdq.2_Missense_Mutation_p.A67T	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGACGAGCAGGCGAGGCAATT	0.433													A	75203207	G	A	75203207	3	1	158	1	0	0	0	0	1	0	0	0	17633	1203	42	2	209	2	ZFP1	16	75203207	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	53970	75203207	15151546	2304	86085											
CHST6	4166	broad.mit.edu	37	chr16	75512651	75512651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctcagagtacacaggcCggtagcccagcagctgcagc	12	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:75512651C>T	uc002fef.2	-	3	1256	c.1076G>A	c.(1075-1077)CGG>CAG	p.R359Q	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R359Q	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	359	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GTACACAGGCCGGTAGCCCAG	0.662													T	75512651	C	T	75512651	3	4	158	1	0	0	0	0	1	0	0	0	3408	652	23	1	115	1	CHST6	16	75512651	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	309444	75512651	14842102	2305	86086											
WWOX	51741	broad.mit.edu	37	chr16	78198170	78198170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgagtgaagcagtgtcacGcattttagaagaatgggtaa	14	5	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:78198170G>A	uc002ffk.2	+	5	625	c.500G>A	c.(499-501)CGC>CAC	p.R167H	WWOX_uc010vnk.1_Missense_Mutation_p.R54H|WWOX_uc002ffl.2_Missense_Mutation_p.R167H|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.R167H	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	167	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				0		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)		GCAGTGTCACGCATTTTAGAA	0.453													A	78198170	G	A	78198170	3	1	158	1	0	0	0	0	1	0	0	0	17411	1087	38	1	522	1	WWOX	16	78198170	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2685519	78198170	12156583	2306	86087											
ATMIN	23300	broad.mit.edu	37	chr16	81075942	81075942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtaagtgcagcaattcGtacggtacagaatgggacct	12	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:81075942G>A	uc002ffz.1	+	3	537	c.519G>A	c.(517-519)TCG>TCA	p.S173S	ATMIN_uc002fga.2_Silent_p.S15S|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Silent_p.S15S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	173	C2H2-type 2; degenerate.				response to DNA damage stimulus	nucleus	zinc ion binding				0						GCAGCAATTCGTACGGTACAG	0.493													A	81075942	G	A	81075942	2	1	158	1	0	0	0	0	0	0	0	1	1110	1132	40	1		1	ATMIN	16	81075942	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2877772	81075942	9278811	2307	86088											
GAN	8139	broad.mit.edu	37	chr16	81388220	81388220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactcatttccgagacgtcAgcagcacggaagaattctta	9	10	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:81388220A>G	uc002fgo.2	+	3	641	c.493A>G	c.(493-495)AGC>GGC	p.S165G		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	165	BACK.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				CCGAGACGTCAGCAGCACGGA	0.423													G	81388220	A	G	81388220	3	3	158	1	0	0	0	0	1	0	0	0	6232	188	7	3	503	3	GAN	16	81388220	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	312278	81388220	8966533	2308	86089											
MBTPS1	8720	broad.mit.edu	37	chr16	84103636	84103636	+	Frame_Shift_Del	DEL	T	T	-													ttgaagtctgttctgcaccaTtttttgactaaaaaaaaaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:84103635_84103635AT>A	uc002fhi.3	-	13	2293	c.1791_1791AT>T	c.(1789-1791)aatfs	p.N597fs	MBTPS1_uc002fhh.3_Frame_Shift_Del_p.N101fs	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	597					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum 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						GTTCTGCACCATTTTTTGACT	0.388													-	84103636	T	-	84103636	7	5	158	1	0	1	0	1	0	0	0	0	9361	1493	52	0	1408	0	MBTPS1	16	84103636	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	2715416	84103636	6251117	2309	86090											
IRF8	3394	broad.mit.edu	37	chr16	85946833	85946833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagactggtgggcgcagcagCccagcacaggtgagggtggg	19	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:85946833C>T	uc002fjh.2	+	5	601	c.544C>T	c.(544-546)CCC>TCC	p.P182S	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	182					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)|ovary(1)	3		Prostate(104;0.0771)				GGCGCAGCAGCCCAGCACAGG	0.617													T	85946833	C	T	85946833	3	4	158	1	0	0	0	0	1	0	0	0	7836	739	26	2	558	2	IRF8	16	85946833	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1843197	85946833	4407920	2310	86091											
CA5A	763	broad.mit.edu	37	chr16	87969966	87969966	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgctgagaacaccatcgccCtggcctcatcgaacgactcc	8	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:87969966C>G	uc002fkn.1	-	1	147	c.91G>C	c.(91-93)GGG>CGG	p.G31R		NM_001739	NP_001730	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial precursor	31					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CACCATCGCCCTGGCCTCATC	0.512													G	87969966	C	G	87969966	3	3	158	1	0	0	0	0	1	0	0	0	2519	681	24	5	854	5	CA5A	16	87969966	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2023133	87969966	2384787	2311	86092											
ZC3H18	124245	broad.mit.edu	37	chr16	88675395	88675395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaattgagcggttttggcGtggcggacagtatgagaatt	15	4	0	3	rs140943631	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:88675395G>A	uc002fky.2	+	7	1342	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H	ZC3H18_uc010voy.1_Missense_Mutation_p.R264H|ZC3H18_uc010voz.1_Missense_Mutation_p.R405H|ZC3H18_uc010chw.2_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	381						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTTTTGGCGTGGCGGACAG	0.423													A	88675395	G	A	88675395	3	1	158	1	0	0	0	0	1	0	0	0	17565	1145	40	1	1164	1	ZC3H18	16	88675395	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	705429	88675395	1679358	2312	86093											
CDT1	81620	broad.mit.edu	37	chr16	88871997	88871997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccacaaccgctccgagaCgcccacctttgccaaggtcc	8	19	0	1	rs146872515		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:88871997C>T	uc002flu.2	+	4	692	c.638C>T	c.(637-639)ACG>ATG	p.T213M		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	213					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGCTCCGAGACGCCCACCTTT	0.672													T	88871997	C	T	88871997	3	4	158	1	0	0	0	0	1	0	0	0	3180	536	19	1	652	1	CDT1	16	88871997	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	196602	88871997	1482756	2313	86094											
ZNF778	197320	broad.mit.edu	37	chr16	89293211	89293211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaaaatacaggagacaGttgtgtgtctaatcattatg	8	6	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89293211G>A	uc002fmv.2	+	6	770	c.431G>A	c.(430-432)AGT>AAT	p.S144N	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.S102N|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACAGGAGACAGTTGTGTGTCT	0.458													A	89293211	G	A	89293211	3	1	158	1	0	0	0	0	1	0	0	0	18148	1029	36	4	449	4	ZNF778	16	89293211	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	421214	89293211	1061542	2314	86095											
ZNF778	197320	broad.mit.edu	37	chr16	89293704	89293704	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcatgctgcagagaaaccCtgtgaatgtaaagaatgcgg	11	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89293704C>A	uc002fmv.2	+	6	1263	c.924C>A	c.(922-924)CCC>CCA	p.P308P	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.P266P|ZNF778_uc010vpg.1_Silent_p.P71P	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CAGAGAAACCCTGTGAATGTA	0.463													A	89293704	C	A	89293704	2	1	158	1	0	0	0	0	0	0	0	1	18148	668	24	5		5	ZNF778	16	89293704	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	493	89293704	1061049	2315	86096											
ANKRD11	29123	broad.mit.edu	37	chr16	89348269	89348269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgtctttcttgcctgGgtctttggatggcgctacct	12	12	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89348269G>T	uc002fmx.1	-	9	5142	c.4681C>A	c.(4681-4683)CCA>ACA	p.P1561T	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1561T|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1561T|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1518T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1561	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TTCTTGCCTGGGTCTTTGGAT	0.552													T	89348269	G	T	89348269	3	4	158	1	0	0	0	0	1	0	0	0	639	1232	43	5	3330	5	ANKRD11	16	89348269	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	54565	89348269	1006484	2316	86097											
ANKRD11	29123	broad.mit.edu	37	chr16	89350090	89350090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgcagctctccagggCgtcctttctgtcccgcccgg	10	18	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89350090C>T	uc002fmx.1	-	9	3321	c.2860G>A	c.(2860-2862)GCC>ACC	p.A954T	ANKRD11_uc002fmy.1_Missense_Mutation_p.A954T|ANKRD11_uc002fnc.1_Missense_Mutation_p.A954T|ANKRD11_uc002fnb.1_Missense_Mutation_p.A911T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	954	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		CTCTCCAGGGCGTCCTTTCTG	0.612													T	89350090	C	T	89350090	3	4	158	1	0	0	0	0	1	0	0	0	639	768	27	1	5151	1	ANKRD11	16	89350090	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1821	89350090	1004663	2317	86098											
ANKRD11	29123	broad.mit.edu	37	chr16	89357036	89357036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacagggtgcccacctgCgaagtccttgacgttgacgt	13	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89357036C>T	uc002fmx.1	-	6	1059	c.598G>A	c.(598-600)GCA>ACA	p.A200T	ANKRD11_uc002fmy.1_Missense_Mutation_p.A200T|ANKRD11_uc002fnc.1_Missense_Mutation_p.A200T|ANKRD11_uc002fnd.2_Missense_Mutation_p.A166T|ANKRD11_uc002fne.2_Missense_Mutation_p.A166T|ANKRD11_uc002fnb.1_Missense_Mutation_p.A157T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	200	ANK 2.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TGCCCACCTGCGAAGTCCTTG	0.692													T	89357036	C	T	89357036	3	4	158	1	0	0	0	0	1	0	0	0	639	768	27	1	7425	1	ANKRD11	16	89357036	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6946	89357036	997717	2318	86099											
CPNE7	27132	broad.mit.edu	37	chr16	89644102	89644102	+	Frame_Shift_Del	DEL	G	G	-													tgtcaggaggacgatttcctGgggggcatggagtgcaccct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89644102delG	uc002fnp.2	+	2	460	c.330delG	c.(328-330)CTGfs	p.L110fs	CPNE7_uc002fnq.2_Frame_Shift_Del_p.L110fs	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	110	C2 1.				lipid metabolic process		transporter activity				0		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)		ACGATTTCCTGGGGGGCATGG	0.647													-	89644102	G	-	89644102	7	5	158	1	0	1	0	1	0	0	0	0	3817	1335	47	0	336	0	CPNE7	16	89644102	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	287066	89644102	710651	2319	86100											
DPEP1	1800	broad.mit.edu	37	chr16	89703696	89703696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaaggccaccctgcagCtgtccagagccccggtcatc	10	17	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89703696C>T	uc010cin.2	+	7	879	c.676C>T	c.(676-678)CTG>TTG	p.L226L	DPEP1_uc002fnr.3_Silent_p.L226L|DPEP1_uc002fns.3_Silent_p.L226L	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	226					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CACCCTGCAGCTGTCCAGAGC	0.647													T	89703696	C	T	89703696	2	4	158	1	0	0	0	0	0	0	0	1	4713	796	28	2		2	DPEP1	16	89703696	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	59594	89703696	651057	2320	86101											
C16orf55	124045	broad.mit.edu	37	chr16	89735849	89735849	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggaggactggggcccctacCggcggcacaggaaccccagt	15	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89735849C>A	uc002fnw.1	+	3	364	c.364C>A	c.(364-366)CGG>AGG	p.R122R	C16orf55_uc010vpk.1_Silent_p.R123R|C16orf55_uc002fny.1_RNA	NM_153025	NP_694570	Q96N06	CP055_HUMAN	hypothetical protein LOC124045	122											0		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGGCCCCTACCGGCGGCACAG	0.567													A	89735849	C	A	89735849	2	1	158	1	0	0	0	0	0	0	0	1	1820	643	23	5		5	C16orf55	16	89735849	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	32153	89735849	618904	2321	86102											
SPATA2L	124044	broad.mit.edu	37	chr16	89764597	89764597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggcggggggcagggcGgtcaccatgagccgatggct	20	10	1	1	rs146721452	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89764597G>A	uc002foj.2	-	3	485	c.420C>T	c.(418-420)ACC>ACT	p.T140T	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	140											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGGCAGGGCGGTCACCATGA	0.657													A	89764597	G	A	89764597	2	1	158	1	0	0	0	0	0	0	0	1	15008	1103	39	1		1	SPATA2L	16	89764597	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	28748	89764597	590156	2322	86103											
ZNF276	92822	broad.mit.edu	37	chr16	89804288	89804288	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttctcgtccaccaaatgCgacattcgggagccaagcct	8	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89804288C>T	uc002fos.3	+	10	1646	c.1549C>T	c.(1549-1551)CGA>TGA	p.R517*	ZNF276_uc010ciq.2_Nonsense_Mutation_p.R303*|ZNF276_uc002fop.2_Nonsense_Mutation_p.R425*|ZNF276_uc002foq.3_Nonsense_Mutation_p.R442*|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Nonsense_Mutation_p.R303*|ZNF276_uc010cis.2_Nonsense_Mutation_p.R276*|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Nonsense_Mutation_p.R355*|ZNF276_uc010cit.1_Nonsense_Mutation_p.R276*|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	517	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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													T	89804288	C	T	89804288	4	4	158	1	0	0	0	0	0	1	0	0	17808	760	27	1	1587	1	ZNF276	16	89804288	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	39691	89804288	550465	2323	86104											
TCF25	22980	broad.mit.edu	37	chr16	89977610	89977610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgacctggaggcgccgcaCgaggacgacgctgaggggga	18	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89977610C>T	uc002fpb.2	+	18	2077	c.1995C>T	c.(1993-1995)CAC>CAT	p.H665H	TCF25_uc002fpc.2_Nonsense_Mutation_p.R470*|uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	665					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		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)		AGGCGCCGCACGAGGACGACG	0.622													T	89977610	C	T	89977610	2	4	158	1	0	0	0	0	0	0	0	1	15690	535	19	1		1	TCF25	16	89977610	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	173322	89977610	377143	2324	86105											
VPS53	55275	broad.mit.edu	37	chr17	530427	530428	+	Frame_Shift_Ins	INS	-	-	A													atctaccttgtcacatggcaINSaaattccaccgcaatcctct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:530426_530427C>CA	uc010cjo.2	-	9	1108_1109	c.961_962G>TG	c.(961-963)tgcfs	p.C321fs	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Frame_Shift_Ins_p.C292fs|VPS53_uc002frn.2_Frame_Shift_Ins_p.C321fs|VPS53_uc002fro.2_Frame_Shift_Ins_p.C123fs|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	321					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGTCACATGGCAAAATTCCACC	0.485													A	530428	-	A	530427	7	5	158	1	0	1	1	0	0	0	0	0	17212	130	5	0	1604	0	VPS53	17	530427	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08		530427	80664783	2325	86106											
NXN	64359	broad.mit.edu	37	chr17	708348	708348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctcgttaagctgcgcGgcgttggagtcggagagctc	17	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:708348G>A	uc002fsa.2	-	6	1052	c.960C>T	c.(958-960)GCC>GCT	p.A320A	NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Silent_p.A71A|NXN_uc010vqe.1_Silent_p.A212A	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	320	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TAAGCTGCGCGGCGTTGGAGT	0.692													A	708348	G	A	708348	2	1	158	1	0	0	0	0	0	0	0	1	10787	1103	39	1		1	NXN	17	708348	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	177921	708348	80486862	2326	86107											
NXN	64359	broad.mit.edu	37	chr17	722696	722696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttggattccgtacagcCggttgaggcgcgaccgccgg	14	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:722696C>T	uc002fsa.2	-	5	895	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.1_Missense_Mutation_p.R19Q|NXN_uc002frz.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.1_Missense_Mutation_p.R160Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	268	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGTACAGCCGGTTGAGGCG	0.607													T	722696	C	T	722696	3	4	158	1	0	0	0	0	1	0	0	0	10787	652	23	1	520	1	NXN	17	722696	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	14348	722696	80472514	2327	86108											
SERPINF1	5176	broad.mit.edu	37	chr17	1674431	1674432	+	Frame_Shift_Ins	INS	-	-	CC													ctccttgacacggtcactgcINScccccagaagaacctcaaga					rs148005190		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:1674430_1674431G>GCC	uc002ftl.3	+	3	548_549	c.391_392G>GCC	c.(391-393)gccfs	p.A131fs		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	131					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						CACGGTCACTGCCCCCCAGAAG	0.55													CC	1674432	-	CC	1674431	7	5	158	1	0	1	1	0	0	0	0	0	14114	739	26	0	402	0	SERPINF1	17	1674431	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	951735	1674431	79520779	2328	86109											
SMYD4	114826	broad.mit.edu	37	chr17	1686367	1686367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatttgaagagctcatgGcccatttcaacactggacgg	10	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:1686367G>A	uc002ftm.3	-	10	2391	c.2223C>T	c.(2221-2223)GGC>GGT	p.G741G	SMYD4_uc002ftn.1_Silent_p.G596G	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	741							zinc ion binding			skin(3)|kidney(2)	5						AGAGCTCATGGCCCATTTCAA	0.522													A	1686367	G	A	1686367	2	1	158	1	0	0	0	0	0	0	0	1	14824	1190	42	2		2	SMYD4	17	1686367	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	11936	1686367	79508843	2329	86110											
SMG6	23293	broad.mit.edu	37	chr17	1985165	1985165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagagccagcttcttgGcccgaagctccctgatgtca	11	14	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:1985165G>A	uc002fub.1	-	15	3675	c.3620C>T	c.(3619-3621)GCC>GTC	p.A1207V	SMG6_uc010vqv.1_Missense_Mutation_p.A299V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	1207	Potential.				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			central_nervous_system(2)|lung(1)|kidney(1)	4						CAGCTTCTTGGCCCGAAGCTC	0.587													A	1985165	G	A	1985165	3	1	158	1	0	0	0	0	1	0	0	0	14797	1203	42	2	659	2	SMG6	17	1985165	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	298798	1985165	79210045	2330	86111											
SMG6	23293	broad.mit.edu	37	chr17	2186003	2186003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttcccagactcagtgcCctgggaagaccgtggatggg	13	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2186003C>A	uc002fub.1	-	8	2654	c.2599G>T	c.(2599-2601)GGC>TGC	p.G867C		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	867					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			central_nervous_system(2)|lung(1)|kidney(1)	4						GACTCAGTGCCCTGGGAAGAC	0.527													A	2186003	C	A	2186003	3	1	158	1	0	0	0	0	1	0	0	0	14797	623	22	5	1708	5	SMG6	17	2186003	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	200838	2186003	79009207	2331	86112											
SGSM2	9905	broad.mit.edu	37	chr17	2280072	2280072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctatgtgcagggcatgtgCgatctgctggcgcctctcct	14	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2280072C>T	uc002fun.3	+	19	2695	c.2520C>T	c.(2518-2520)TGC>TGT	p.C840C	SGSM2_uc002fum.3_Silent_p.C885C|SGSM2_uc010vqw.1_Silent_p.C840C|SGSM2_uc002fup.1_Silent_p.C18C|SGSM2_uc002fuq.2_Silent_p.C2C	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	840	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGGCATGTGCGATCTGCTGG	0.632													T	2280072	C	T	2280072	2	4	158	1	0	0	0	0	0	0	0	1	14223	776	27	1		1	SGSM2	17	2280072	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	94069	2280072	78915138	2332	86113											
KIAA0664	23277	broad.mit.edu	37	chr17	2601713	2601713	+	Frame_Shift_Del	DEL	C	C	-													cgccacgtaggccgccacgtCccccccgaagtccttgtagt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2601712_2601712TC>T	uc002fuy.1	-	9	1411	c.1325_1325GA>A	c.(1324-1326)gacfs	p.D442fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.D374fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	442							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGCCGCCACGTCCCCCCCGAA	0.622													-	2601713	C	-	2601713	7	5	158	1	0	1	0	1	0	0	0	0	8189	855	30	0	2673	0	KIAA0664	17	2601713	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	321641	2601713	78593497	2333	86114											
KIAA0664	23277	broad.mit.edu	37	chr17	2601770	2601770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggctgaagaagatgtTgttccagatgaacatctgca	11	9	1	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2601770T>C	uc002fuy.1	-	10	1353	c.1267A>G	c.(1267-1269)AAC>GAC	p.N423D	KIAA0664_uc002fux.1_Missense_Mutation_p.N355D	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	423							binding			breast(2)	2						AAGAAGATGTTGTTCCAGATG	0.622													C	2601770	T	C	2601770	3	2	158	1	0	0	0	0	1	0	0	0	8189	1812	63	3	2730	3	KIAA0664	17	2601770	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	57	2601770	78593440	2334	86115											
OR1A1	8383	broad.mit.edu	37	chr17	3119158	3119158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtaaccatccctaagatgCtggccaaccatctcttgggc	9	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:3119158C>T	uc010vrc.1	+	1	244	c.244C>T	c.(244-246)CTG>TTG	p.L82L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CCCTAAGATGCTGGCCAACCA	0.458													T	3119158	C	T	3119158	2	4	158	1	0	0	0	0	0	0	0	1	10949	796	28	2		2	OR1A1	17	3119158	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	517388	3119158	78076052	2335	86116											
ATP2A3	489	broad.mit.edu	37	chr17	3844376	3844376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctggcgctgctgctcGgggctgaggtcatcaaactc	14	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:3844376G>A	uc002fxb.1	-	14	2140	c.1989C>T	c.(1987-1989)CCC>CCT	p.P663P	ATP2A3_uc002fwx.1_Silent_p.P663P|ATP2A3_uc002fwy.1_Silent_p.P663P|ATP2A3_uc002fwz.1_Silent_p.P663P|ATP2A3_uc002fxa.1_Silent_p.P663P|ATP2A3_uc002fxc.1_Silent_p.P663P|ATP2A3_uc002fxd.1_Silent_p.P663P	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	663	Cytoplasmic (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTGCTGCTCGGGGCTGAGGT	0.672													A	3844376	G	A	3844376	2	1	158	1	0	0	0	0	0	0	0	1	1138	1103	39	1		1	ATP2A3	17	3844376	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	725218	3844376	77350834	2336	86117											
SPNS3	201305	broad.mit.edu	37	chr17	4351594	4351594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacgtcagatacctggggAaaaagtgagtatccctgcta	12	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4351594A>G	uc002fxt.2	+	6	810	c.766A>G	c.(766-768)AAA>GAA	p.K256E	SPNS3_uc002fxu.2_Missense_Mutation_p.K129E	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	256					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						ATACCTGGGGAAAAAGTGAGT	0.637													G	4351594	A	G	4351594	3	3	158	1	0	0	0	0	1	0	0	0	15075	247	9	3	788	3	SPNS3	17	4351594	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	507218	4351594	76843616	2337	86118											
GGT6	124975	broad.mit.edu	37	chr17	4461360	4461360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacactggagacatgggCgtgctctgtgtgggctgcca	18	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4461360C>T	uc002fyd.3	-	4	1492	c.1432G>A	c.(1432-1434)GCC>ACC	p.A478T	MYBBP1A_uc002fxz.3_5'Flank|MYBBP1A_uc002fyb.3_5'Flank|GGT6_uc010vsb.1_Missense_Mutation_p.A330T|GGT6_uc002fyc.3_Missense_Mutation_p.A446T|GGT6_uc010vsc.1_Missense_Mutation_p.A484T	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	478	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						GAGACATGGGCGTGCTCTGTG	0.622													T	4461360	C	T	4461360	3	4	158	1	0	0	0	0	1	0	0	0	6363	768	27	1	53	1	GGT6	17	4461360	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	109766	4461360	76733850	2338	86119											
TM4SF5	9032	broad.mit.edu	37	chr17	4686165	4686165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggggagcttacttgctcAaccgcactctatgggatcgg	12	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4686165A>G	uc002fyw.1	+	4	443	c.412A>G	c.(412-414)AAC>GAC	p.N138D		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	138	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1						TTACTTGCTCAACCGCACTCT	0.662													G	4686165	A	G	4686165	3	3	158	1	0	0	0	0	1	0	0	0	15968	130	5	3	426	3	TM4SF5	17	4686165	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	224805	4686165	76509045	2339	86120											
PLD2	5338	broad.mit.edu	37	chr17	4713005	4713005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggggatgatccggaagCgctcaggtggccaccgtgtt	18	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4713005C>T	uc002fzc.2	+	8	735	c.634C>T	c.(634-636)CGC>TGC	p.R212C	PLD2_uc010vsj.1_Missense_Mutation_p.R69C|PLD2_uc002fzd.2_Missense_Mutation_p.R212C	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	212	PH.			R -> C (in Ref. 3; AAB96656).	cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	GATCCGGAAGCGCTCAGGTGG	0.627													T	4713005	C	T	4713005	3	4	158	1	0	0	0	0	1	0	0	0	12046	768	27	1	660	1	PLD2	17	4713005	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26840	4713005	76482205	2340	86121											
CHRNE	1145	broad.mit.edu	37	chr17	4802326	4802326	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctcctgatctctcgtgctCtcggccacgaagttcacggc	10	16	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4802326C>A	uc002fzk.1	-	11	1307	c.1296G>T	c.(1294-1296)GAG>GAT	p.E432D	C17orf107_uc010ckr.2_5'Flank|C17orf107_uc002fzl.3_5'Flank	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	432	Cytoplasmic (Potential).				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				0						CTCTCGTGCTCTCGGCCACGA	0.701													A	4802326	C	A	4802326	3	1	158	1	0	0	0	0	1	0	0	0	3395	912	32	5	193	5	CHRNE	17	4802326	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	89321	4802326	76392884	2341	86122											
RNF167	26001	broad.mit.edu	37	chr17	4846214	4846214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctccgagtacctgcgtGccctctttgtctacgagaag	11	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4846214G>A	uc002fzq.2	+	7	864	c.448G>A	c.(448-450)GCC>ACC	p.A150T	SLC25A11_uc002fzo.1_5'Flank|SLC25A11_uc002fzp.1_5'Flank|RNF167_uc002fzr.2_Missense_Mutation_p.A150T|RNF167_uc002fzs.2_Missense_Mutation_p.A150T|RNF167_uc002fzt.2_Missense_Mutation_p.A150T|RNF167_uc002fzu.2_Missense_Mutation_p.A150T|RNF167_uc002fzv.2_Missense_Mutation_p.A115T|RNF167_uc002fzw.1_Missense_Mutation_p.A115T|RNF167_uc002fzx.2_Missense_Mutation_p.A115T|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	150	PA.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GTACCTGCGTGCCCTCTTTGT	0.542													A	4846214	G	A	4846214	3	1	158	1	0	0	0	0	1	0	0	0	13458	1319	46	2	466	2	RNF167	17	4846214	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	43888	4846214	76348996	2342	86123											
KIF1C	10749	broad.mit.edu	37	chr17	4908175	4908175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccgcaccaagcaaatcCgctgcaatgccatcatcaac	6	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4908175C>T	uc002gan.1	+	13	1371	c.1045C>T	c.(1045-1047)CGC>TGC	p.R349C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	349					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						CAAGCAAATCCGCTGCAATGC	0.612													T	4908175	C	T	4908175	3	4	158	1	0	0	0	0	1	0	0	0	8285	652	23	1	1087	1	KIF1C	17	4908175	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	61961	4908175	76287035	2343	86124											
PITPNM3	83394	broad.mit.edu	37	chr17	6377759	6377759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatccctaccgtccagCccaggcagcaccgtcctccg	7	21	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6377759C>T	uc002gdd.3	-	10	1402	c.1251G>A	c.(1249-1251)GGG>GGA	p.G417G	PITPNM3_uc010cln.2_Silent_p.G381G|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_Silent_p.G8G	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	417	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TACCGTCCAGCCCAGGCAGCA	0.647													T	6377759	C	T	6377759	2	4	158	1	0	0	0	0	0	0	0	1	11952	726	26	2		2	PITPNM3	17	6377759	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1469584	6377759	74817451	2344	86125											
PITPNM3	83394	broad.mit.edu	37	chr17	6381891	6381891	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaagccaatcccatcAgaggacttcaggaactctct	7	14	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6381891A>C	uc002gdd.3	-	7	904	c.753T>G	c.(751-753)TCT>TCG	p.S251S	PITPNM3_uc010cln.2_Silent_p.S215S|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	251					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAATCCCATCAGAGGACTTCA	0.627													C	6381891	A	C	6381891	2	2	158	1	0	0	0	0	0	0	0	1	11952	175	7	5		5	PITPNM3	17	6381891	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	4132	6381891	74813319	2345	86126											
BCL6B	255877	broad.mit.edu	37	chr17	6927479	6927479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcccgggggtcccgaagCgagaggcttcgcccctctat	13	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6927479C>T	uc002geg.2	+	3	314	c.257C>T	c.(256-258)GCG>GTG	p.A86V	BCL6B_uc010clt.1_Missense_Mutation_p.A86V	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	86	BTB.					nucleus	zinc ion binding			skin(1)	1						GGTCCCGAAGCGAGAGGCTTC	0.607													T	6927479	C	T	6927479	3	4	158	1	0	0	0	0	1	0	0	0	1377	768	27	1	263	1	BCL6B	17	6927479	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	545588	6927479	74267731	2346	86127											
BCL6B	255877	broad.mit.edu	37	chr17	6929846	6929846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggggctggactccttggtTcctggggacgaagacaaacc	14	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6929846T>C	uc002geg.2	+	6	1017	c.960T>C	c.(958-960)GTT>GTC	p.V320V	BCL6B_uc010clt.1_Silent_p.V321V	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	320						nucleus	zinc ion binding			skin(1)	1						ACTCCTTGGTTCCTGGGGACG	0.562													C	6929846	T	C	6929846	2	2	158	1	0	0	0	0	0	0	0	1	1377	1770	62	3		3	BCL6B	17	6929846	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2367	6929846	74265364	2347	86128											
ASGR1	432	broad.mit.edu	37	chr17	7077550	7077550	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcccggagcgagagaaCcagtagcagctgcgctcgtg	14	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7077550C>T	uc002ges.3	-	7	911	c.501G>A	c.(499-501)TGG>TGA	p.W167*	ASGR1_uc010clx.1_Nonsense_Mutation_p.W66*	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	167	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						AGCGAGAGAACCAGTAGCAGC	0.672													T	7077550	C	T	7077550	4	4	158	1	0	0	0	0	0	1	0	0	1039	508	18	4	386	4	ASGR1	17	7077550	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	147704	7077550	74117660	2348	86129											
NEURL4	84461	broad.mit.edu	37	chr17	7225044	7225044	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccatctcccccggtgcTagtgtggtcagccccagccg	12	17	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7225044T>C	uc002gga.1	-	18	2941	c.2934A>G	c.(2932-2934)CTA>CTG	p.L978L	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Silent_p.L976L|NEURL4_uc002ggc.1_Silent_p.L324L	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	978	NHR 5.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCCCCGGTGCTAGTGTGGTCA	0.617													C	7225044	T	C	7225044	2	2	158	1	0	0	0	0	0	0	0	1	10347	1509	53	3		3	NEURL4	17	7225044	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	147494	7225044	73970166	2349	86130											
NEURL4	84461	broad.mit.edu	37	chr17	7228685	7228685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggcgttgtttcggcGgagacggtcactgtggttgt	17	7	1	1	rs146105515	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7228685G>A	uc002gga.1	-	8	1481	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	NEURL4_uc002ggb.1_Missense_Mutation_p.R492C|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	492							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TTGTTTCGGCGGAGACGGTCA	0.642													A	7228685	G	A	7228685	3	1	158	1	0	0	0	0	1	0	0	0	10347	1116	39	1	3302	1	NEURL4	17	7228685	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3641	7228685	73966525	2350	86131											
NLGN2	57555	broad.mit.edu	37	chr17	7320492	7320492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcctccctacgccacgCgctggccgcctcgtcccccc	9	24	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7320492C>T	uc002ggt.1	+	7	1955	c.1882C>T	c.(1882-1884)CGC>TGC	p.R628C	FGF11_uc010vtw.1_5'Flank	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	628	Extracellular (Potential).				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)	1		Prostate(122;0.157)				CTACGCCACGCGCTGGCCGCC	0.761													T	7320492	C	T	7320492	3	4	158	1	0	0	0	0	1	0	0	0	10462	768	27	1	1908	1	NLGN2	17	7320492	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	91807	7320492	73874718	2351	86132											
POLR2A	5430	broad.mit.edu	37	chr17	7412441	7412441	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctggctgttgcgggtggAgctggatcggaagcacatga	16	10	0	1	rs79819463		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7412441A>C	uc002ghf.3	+	21	3878	c.3644A>C	c.(3643-3645)GAG>GCG	p.E1215A		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1215					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			pancreas(1)	1		Prostate(122;0.173)				TTGCGGGTGGAGCTGGATCGG	0.557													C	7412441	A	C	7412441	3	2	158	1	0	0	0	0	1	0	0	0	12214	304	11	5	3726	5	POLR2A	17	7412441	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	91949	7412441	73782769	2352	86133											
SENP3	26168	broad.mit.edu	37	chr17	7473750	7473750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcatctctgttgatgTgaggcgacgcaccatcacct	9	14	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7473750T>C	uc002ghm.2	+	9	1691	c.1418T>C	c.(1417-1419)GTG>GCG	p.V473A	EIF4A1_uc002gho.1_5'UTR|EIF4A1_uc002ghr.1_5'Flank|EIF4A1_uc002ghq.1_5'Flank|EIF4A1_uc002ghp.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	473	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				TCTGTTGATGTGAGGCGACGC	0.532													C	7473750	T	C	7473750	3	2	158	1	0	0	0	0	1	0	0	0	14048	1696	59	3	1445	3	SENP3	17	7473750	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	61309	7473750	73721460	2353	86134											
ATP1B2	482	broad.mit.edu	37	chr17	7557199	7557199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgagaaccttgatgtcatTgtcaatgtcagtgacactga	9	8	3	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7557199T>C	uc002gif.1	+	3	865	c.282T>C	c.(280-282)ATT>ATC	p.I94I		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	94	Extracellular (Potential).				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)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TTGATGTCATTGTCAATGTCA	0.488													C	7557199	T	C	7557199	2	2	158	1	0	0	0	0	0	0	0	1	1133	1800	63	3		3	ATP1B2	17	7557199	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	83449	7557199	73638011	2354	86135											
WRAP53	55135	broad.mit.edu	37	chr17	7592173	7592173	+	Frame_Shift_Del	DEL	G	G	-													gtgtcccaggagctacgggaGggggacccagtttctctctc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7592172_7592172AG>A	uc010vuh.2	+	1	361	c.206_206AG>A	c.(205-207)gagfs	p.E69fs	WRAP53_uc010vui.2_Frame_Shift_Del_p.E69fs|WRAP53_uc002gip.3_Frame_Shift_Del_p.E69fs|WRAP53_uc002gir.3_Frame_Shift_Del_p.E69fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Del_p.E69fs|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	69					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GAGCTACGGGAGGGGGACCCA	0.582													-	7592173	G	-	7592173	7	5	158	1	0	1	0	1	0	0	0	0	17397	991	35	0	209	0	WRAP53	17	7592173	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	34974	7592173	73603037	2355	86136											
DNAH2	146754	broad.mit.edu	37	chr17	7626991	7626991	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagagtgaagaatcagtggAgcccgaggcagatgtggtag	16	6	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7626991A>T	uc002giu.1	+	2	226	c.212A>T	c.(211-213)GAG>GTG	p.E71V	DNAH2_uc002git.2_Missense_Mutation_p.E71V|DNAH2_uc010vuk.1_Missense_Mutation_p.E71V	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	71	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAATCAGTGGAGCCCGAGGCA	0.478													T	7626991	A	T	7626991	3	4	158	1	0	0	0	0	1	0	0	0	4602	304	11	5	218	5	DNAH2	17	7626991	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	34818	7626991	73568219	2356	86137											
DNAH2	146754	broad.mit.edu	37	chr17	7663182	7663183	+	Frame_Shift_Del	DEL	TC	TC	-													caaccacctcttttccaccaTctctgtcttctgccacctcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7663181_7663182ATC>A	uc002giu.1	+	15	2724_2725	c.2710_2711ATC>A	c.(2710-2712)atcfs	p.I904fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	904	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)				CTTTTCCACCATCTCTGTCTTC	0.535													-	7663183	TC	-	7663182	7	5	158	1	0	1	0	1	0	0	0	0	4602	1435	50	0	2773	0	DNAH2	17	7663182	Frame_Shift_Del	DEL	TC	TCGA-CD-A4MG-01A-11D-A25D-08	36191	7663182	73532028	2357	86138											
DNAH2	146754	broad.mit.edu	37	chr17	7710878	7710878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaagcaagccgcgctcGctgaggcccaggagaagctg	17	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7710878G>A	uc002giu.1	+	62	9717	c.9703G>A	c.(9703-9705)GCT>ACT	p.A3235T	DNAH2_uc010cnm.1_Missense_Mutation_p.A173T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3235	Potential.|Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCGCGCTCGCTGAGGCCCA	0.587													A	7710878	G	A	7710878	3	1	158	1	0	0	0	0	1	0	0	0	4602	1087	38	1	9949	1	DNAH2	17	7710878	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	47696	7710878	73484332	2358	86139											
CHD3	1107	broad.mit.edu	37	chr17	7797857	7797857	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacacctgccctcgtgcCtaccacctcgtctgccttga	8	17	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7797857C>A	uc002gje.2	+	8	1350	c.1200C>A	c.(1198-1200)GCC>GCA	p.A400A	CHD3_uc002gjd.2_Silent_p.A459A|CHD3_uc002gjf.2_Silent_p.A400A|CHD3_uc002gjg.1_Silent_p.A228A	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	400	PHD-type 1.				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(1)	1		Prostate(122;0.202)				GCCCTCGTGCCTACCACCTCG	0.577													A	7797857	C	A	7797857	2	1	158	1	0	0	0	0	0	0	0	1	3326	668	24	5		5	CHD3	17	7797857	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	86979	7797857	73397353	2359	86140											
AURKB	9212	broad.mit.edu	37	chr17	8108544	8108544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcccaccttgacgatgCggcgataggtctcgttgtgt	12	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:8108544C>T	uc002gkm.2	-	8	912	c.851G>A	c.(850-852)CGC>CAC	p.R284H	AURKB_uc010cnu.2_Missense_Mutation_p.R104H|AURKB_uc002gkn.2_Missense_Mutation_p.R285H|AURKB_uc010vuu.1_Missense_Mutation_p.R243H|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	284	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			lung(2)|breast(1)|central_nervous_system(1)	4						CTTGACGATGCGGCGATAGGT	0.592													T	8108544	C	T	8108544	3	4	158	1	0	0	0	0	1	0	0	0	1223	768	27	1	191	1	AURKB	17	8108544	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	310687	8108544	73086666	2360	86141											
MYH10	4628	broad.mit.edu	37	chr17	8379141	8379141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttactctgactggggtggcTgcgtctcgttgacatcactg	12	10	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:8379141T>C	uc002gll.2	-	41	6008	c.5912A>G	c.(5911-5913)CAG>CGG	p.Q1971R	MYH10_uc002glm.2_Missense_Mutation_p.Q2002R|MYH10_uc010cnx.2_Missense_Mutation_p.Q1980R	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1971	Potential.				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			ovary(2)	2						CTGGGGTGGCTGCGTCTCGTT	0.572													C	8379141	T	C	8379141	3	2	158	1	0	0	0	0	1	0	0	0	10030	1580	55	3	22	3	MYH10	17	8379141	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	270597	8379141	72816069	2361	86142											
STX8	9482	broad.mit.edu	37	chr17	9460769	9460769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctgatgtgttgacacaGctcttagcaataagtccttc	7	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:9460769G>A	uc002glx.2	-	3	344	c.194C>T	c.(193-195)GCT>GTT	p.A65V		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	65	Cytoplasmic (Potential).|Potential.				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						TGTTGACACAGCTCTTAGCAA	0.413													A	9460769	G	A	9460769	3	1	158	1	0	0	0	0	1	0	0	0	15350	971	34	2	540	2	STX8	17	9460769	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1081628	9460769	71734441	2362	86143											
USP43	124739	broad.mit.edu	37	chr17	9631302	9631302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcgtttggtacggggCgtgaaaggcagaagcattag	16	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:9631302C>T	uc010cod.2	+	15	2367	c.2367C>T	c.(2365-2367)GGC>GGT	p.G789G	USP43_uc002gma.3_Silent_p.G478G|USP43_uc010vva.1_Silent_p.G784G|USP43_uc010coe.2_Silent_p.G586G|USP43_uc002gmc.3_Silent_p.G301G	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	789					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R789R(1)		ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TGGTACGGGGCGTGAAAGGCA	0.517													T	9631302	C	T	9631302	2	4	158	1	0	0	0	0	0	0	0	1	17071	755	27	1		1	USP43	17	9631302	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	170533	9631302	71563908	2363	86144											
GAS7	8522	broad.mit.edu	37	chr17	9850287	9850287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtctgggtgagggaacGtcacacagtttatctgtagg	14	7	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:9850287G>A	uc002gmg.1	-	6	700	c.539C>T	c.(538-540)ACG>ATG	p.T180M	GAS7_uc010vvc.1_Translation_Start_Site|GAS7_uc002gmh.1_Missense_Mutation_p.T40M|GAS7_uc010vvd.1_Missense_Mutation_p.T132M|GAS7_uc002gmi.2_Missense_Mutation_p.T116M|GAS7_uc002gmj.1_Missense_Mutation_p.T120M|GAS7_uc010coh.1_Missense_Mutation_p.T120M	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	180					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTGAGGGAACGTCACACAGTT	0.572			T	MLL	AML*								A	9850287	G	A	9850287	3	1	158	1	0	0	0	0	1	0	0	0	6250	1145	40	1	927	1	GAS7	17	9850287	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	218985	9850287	71344923	2364	86145											
MYH8	4626	broad.mit.edu	37	chr17	10299956	10299956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttgaacagctcagtgCtaagagaacgtgactccttc	8	12	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10299956C>T	uc002gmm.2	-	32	4537	c.4442G>A	c.(4441-4443)AGC>AAC	p.S1481N	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1481	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CAGCTCAGTGCTAAGAGAACG	0.443									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10299956	C	T	10299956	3	4	158	1	0	0	0	0	1	0	0	0	10041	797	28	2	1407	2	MYH8	17	10299956	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	449669	10299956	70895254	2365	86146											
MYH4	4622	broad.mit.edu	37	chr17	10355562	10355562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgatctcctccagctccCgggagaggtcagagcgctgc	12	15	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10355562C>T	uc002gmn.2	-	27	3545	c.3434G>A	c.(3433-3435)CGG>CAG	p.R1145Q	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1145	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTCCAGCTCCCGGGAGAGGTC	0.592													T	10355562	C	T	10355562	3	4	158	1	0	0	0	0	1	0	0	0	10037	652	23	1	2441	1	MYH4	17	10355562	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	55606	10355562	70839648	2366	86147											
MYH4	4622	broad.mit.edu	37	chr17	10363367	10363367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgcgggtgaccatccacaGgaacatcttctcgtagatgg	12	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10363367G>T	uc002gmn.2	-	14	1429	c.1318C>A	c.(1318-1320)CTG>ATG	p.L440M	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	440	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			ovary(10)|skin(2)|central_nervous_system(1)	13						ACCATCCACAGGAACATCTTC	0.468													T	10363367	G	T	10363367	3	4	158	1	0	0	0	0	1	0	0	0	10037	991	35	5	4609	5	MYH4	17	10363367	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7805	10363367	70831843	2367	86148											
MYH3	4621	broad.mit.edu	37	chr17	10546157	10546157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggataccttctcgatgagctCgatgcaggcagccaggtcca	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10546157C>T	uc002gmq.1	-	14	1644	c.1567G>A	c.(1567-1569)GAG>AAG	p.E523K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	523	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCGATGAGCTCGATGCAGGCA	0.507													T	10546157	C	T	10546157	3	4	158	1	0	0	0	0	1	0	0	0	10036	893	31	1	4363	1	MYH3	17	10546157	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	182790	10546157	70649053	2368	86149											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14205042	14205042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgggctctgggtcccgCgccgcacacgacccgccagc	12	20	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:14205042C>T	uc002goh.1	+	1	537	c.207C>T	c.(205-207)CGC>CGT	p.R69R	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	69	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CTGGGTCCCGCGCCGCACACG	0.731													T	14205042	C	T	14205042	2	4	158	1	0	0	0	0	0	0	0	1	7366	755	27	1		1	HS3ST3B1	17	14205042	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3658885	14205042	66990168	2369	86150											
PIGL	9487	broad.mit.edu	37	chr17	16120706	16120706	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accctgacgatgaagccatgTtttttgctcccacagtgcta	8	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:16120706T>A	uc002gpv.2	+	1	198	c.166T>A	c.(166-168)TTT>ATT	p.F56I	NCOR1_uc002gpo.2_5'Flank|PIGL_uc010vwd.1_Missense_Mutation_p.F56I|NCOR1_uc002gps.1_5'Flank|NCOR1_uc010coz.1_5'Flank|NCOR1_uc010cpb.1_5'Flank|NCOR1_uc010cpa.1_5'Flank|NCOR1_uc002gpu.2_5'Flank	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	56	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TGAAGCCATGTTTTTTGCTCC	0.607													A	16120706	T	A	16120706	3	1	158	1	0	0	0	0	1	0	0	0	11891	1725	60	5	168	5	PIGL	17	16120706	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1915664	16120706	65074504	2370	86151											
MPRIP	23164	broad.mit.edu	37	chr17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-													acaggacttcaccaatgaagCccccccagctcctctcccag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17046886delC	uc002gqu.1	+	9	1108	c.1052delC	c.(1051-1053)GCCfs	p.A351fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding				0						ACCAATGAAGCCCCCCCAGCT	0.652													-	17046886	C	-	17046886	7	5	158	1	0	1	0	1	0	0	0	0	9743	739	26	0	1086	0	MPRIP	17	17046886	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	926180	17046886	64148324	2371	86152											
MPRIP	23164	broad.mit.edu	37	chr17	17061916	17061916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgactgggctgagttccGtcccatccagcaggccctgg	12	14	0	2	rs149009201	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17061916G>A	uc002gqu.1	+	14	1702	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	MPRIP_uc002gqv.1_Missense_Mutation_p.R549H|MPRIP_uc002gqw.1_Missense_Mutation_p.R304H	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	549	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GCTGAGTTCCGTCCCATCCAG	0.721													A	17061916	G	A	17061916	3	1	158	1	0	0	0	0	1	0	0	0	9743	1145	40	1	1700	1	MPRIP	17	17061916	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	15030	17061916	64133294	2372	86153											
RAI1	10743	broad.mit.edu	37	chr17	17698232	17698232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactctgtggccaagagtgCgtggccccggcctggggagc	18	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17698232C>T	uc002grm.2	+	3	2439	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V	RAI1_uc002grn.1_Missense_Mutation_p.A657V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	657						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCCAAGAGTGCGTGGCCCCGG	0.647													T	17698232	C	T	17698232	3	4	158	1	0	0	0	0	1	0	0	0	13007	768	27	1	1972	1	RAI1	17	17698232	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	636316	17698232	63496978	2373	86154											
RAI1	10743	broad.mit.edu	37	chr17	17698653	17698653	+	Frame_Shift_Del	DEL	C	C	-													ctgggcttccaggaggaggaCccccctggggagaaggtggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17698652_17698652AC>A	uc002grm.3	+	2	2859	c.2390_2390AC>A	c.(2389-2391)gacfs	p.D797fs	RAI1_uc002grn.1_Frame_Shift_Del_p.D797fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	797						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)		CAGGAGGAGGACCCCCCTGGG	0.667													-	17698653	C	-	17698653	7	5	158	1	0	1	0	1	0	0	0	0	13007	506	18	0	2393	0	RAI1	17	17698653	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	421	17698653	63496557	2374	86155											
SREBF1	6720	broad.mit.edu	37	chr17	17722388	17722388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcattgatggaggagCggtagcgcttctcaatggcg	14	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17722388C>T	uc002gru.1	-	5	1201	c.1007G>A	c.(1006-1008)CGC>CAC	p.R336H	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.R82H|SREBF1_uc002grs.1_Missense_Mutation_p.R312H|SREBF1_uc002grt.1_Missense_Mutation_p.R366H|SREBF1_uc010cpp.1_Missense_Mutation_p.R312H|SREBF1_uc010cpq.1_Missense_Mutation_p.R336H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	336	Cytoplasmic (Potential).|Basic motif.|Interaction with LMNA (By similarity).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GATGGAGGAGCGGTAGCGCTT	0.622													T	17722388	C	T	17722388	3	4	158	1	0	0	0	0	1	0	0	0	15140	768	27	1	2496	1	SREBF1	17	17722388	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	23735	17722388	63472822	2375	86156											
SREBF1	6720	broad.mit.edu	37	chr17	17723598	17723598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcgggcatggacgggTacatcttcaatggagtgggt	16	6	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17723598T>C	uc002gru.1	-	2	523	c.329A>G	c.(328-330)TAC>TGC	p.Y110C	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.Y86C|SREBF1_uc002grt.1_Missense_Mutation_p.Y140C|SREBF1_uc010cpp.1_Missense_Mutation_p.Y86C|SREBF1_uc010cpq.1_Missense_Mutation_p.Y110C	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	110	Pro/Ser-rich.|Cytoplasmic (Potential).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CATGGACGGGTACATCTTCAA	0.652													C	17723598	T	C	17723598	3	2	158	1	0	0	0	0	1	0	0	0	15140	1638	57	3	3186	3	SREBF1	17	17723598	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1210	17723598	63471612	2376	86157											
MYO15A	51168	broad.mit.edu	37	chr17	18043861	18043861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcttctccagccatgccCcacaggctgcccctcagcgc	7	21	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:18043861C>A	uc010vxh.1	+	19	5580	c.5242C>A	c.(5242-5244)CCA>ACA	p.P1748T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1748	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAGCCATGCCCCACAGGCTGC	0.637											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18043861	C	A	18043861	3	1	158	1	0	0	0	0	1	0	0	0	10063	623	22	5	5312	5	MYO15A	17	18043861	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	320263	18043861	63151349	2377	86158											
FLII	2314	broad.mit.edu	37	chr17	18156768	18156768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctcagcttgcaaatgGctgactggagggggaacggg	17	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:18156768G>A	uc002gsr.1	-	9	911	c.860C>T	c.(859-861)GCC>GTC	p.A287V	FLII_uc002gsq.1_Missense_Mutation_p.A159V|FLII_uc010cpy.1_Missense_Mutation_p.A276V|FLII_uc010vxn.1_Missense_Mutation_p.A256V|FLII_uc010vxo.1_Missense_Mutation_p.A233V|FLII_uc002gss.1_Missense_Mutation_p.A287V	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	287	LRR 12.|Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					CTTGCAAATGGCTGACTGGAG	0.612													A	18156768	G	A	18156768	3	1	158	1	0	0	0	0	1	0	0	0	5925	1203	42	2	3037	2	FLII	17	18156768	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	112907	18156768	63038442	2378	86159											
PRPSAP2	5636	broad.mit.edu	37	chr17	18832189	18832189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgaaggaaagaggtgcAtataagatctttgtgatggc	12	6	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:18832189A>G	uc002gup.1	+	11	1081	c.870A>G	c.(868-870)GCA>GCG	p.A290A	PRPSAP2_uc002guo.1_Silent_p.A204A|PRPSAP2_uc010vyi.1_Silent_p.A238A|PRPSAP2_uc010vyj.1_Silent_p.A204A|PRPSAP2_uc010vyk.1_Intron|PRPSAP2_uc002guq.1_Silent_p.A77A	NM_002767	NP_002758	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate	290					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			skin(1)	1						AAAGAGGTGCATATAAGATCT	0.478													G	18832189	A	G	18832189	2	3	158	1	0	0	0	0	0	0	0	1	12582	204	8	3		3	PRPSAP2	17	18832189	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	675421	18832189	62363021	2379	86160											
ALDH3A1	218	broad.mit.edu	37	chr17	19645402	19645402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacaggggtcaggtgctTggcagcagccgtcatgatga	16	9	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:19645402T>C	uc010cqu.2	-	4	934	c.604A>G	c.(604-606)AAG>GAG	p.K202E	ALDH3A1_uc010vzd.1_Missense_Mutation_p.K202E|ALDH3A1_uc002gwj.2_Missense_Mutation_p.K202E|ALDH3A1_uc010cqv.2_Missense_Mutation_p.K202E|ALDH3A1_uc002gwk.2_Missense_Mutation_p.K319E|ALDH3A1_uc002gwl.1_Missense_Mutation_p.K129E	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	202					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTCAGGTGCTTGGCAGCAGCC	0.632													C	19645402	T	C	19645402	3	2	158	1	0	0	0	0	1	0	0	0	497	1821	63	3	785	3	ALDH3A1	17	19645402	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	813213	19645402	61549808	2380	86161											
KSR1	8844	broad.mit.edu	37	chr17	25909933	25909933	+	Frame_Shift_Del	DEL	C	C	-													gcacgccagcggccggctgaCcccccgtgccctgcacagct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:25909933delC	uc010crg.2	+	5	816	c.371delC	c.(370-372)ACCfs	p.T124fs	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	259				FSEGLSDTCIPLHASGRLTPRAL -> EFRHTSALTQHTAH TQHTSAHTQ (in Ref. 3).	Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCCGGCTGACCCCCCGTGCC	0.697													-	25909933	C	-	25909933	7	5	158	1	0	1	0	1	0	0	0	0	8581	507	18	0	377	0	KSR1	17	25909933	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	6264531	25909933	55285277	2381	86162											
NLK	51701	broad.mit.edu	37	chr17	26370248	26370248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcaggtacaggctgccGcagctgctacagttaaggcg	13	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26370248G>A	uc010crj.2	+	1	561	c.349G>A	c.(349-351)GCA>ACA	p.A117T	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	117	Poly-Ala.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAGGCTGCCGCAGCTGCTAC	0.572													A	26370248	G	A	26370248	3	1	158	1	0	0	0	0	1	0	0	0	10466	1087	38	1	351	1	NLK	17	26370248	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	460315	26370248	54824962	2382	86163											
SPAG5	10615	broad.mit.edu	37	chr17	26906497	26906497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctctcctccatgcctGgggtctctgaaagagaaagt	11	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26906497G>T	uc002hbq.2	-	18	2983	c.2891C>A	c.(2890-2892)CCA>CAA	p.P964Q	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	964					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					CTCCATGCCTGGGGTCTCTGA	0.483													T	26906497	G	T	26906497	3	4	158	1	0	0	0	0	1	0	0	0	14981	1348	47	5	718	5	SPAG5	17	26906497	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	536249	26906497	54288713	2383	86164											
KIAA0100	9703	broad.mit.edu	37	chr17	26959181	26959181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagataggccttgtgacActtgtccaagttgcccagaa	10	11	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26959181A>G	uc002hbu.2	-	21	3981	c.3882T>C	c.(3880-3882)AGT>AGC	p.S1294S		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1294						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCCTTGTGACACTTGTCCAAG	0.463													G	26959181	A	G	26959181	2	3	158	1	0	0	0	0	0	0	0	1	8154	156	6	3		3	KIAA0100	17	26959181	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	52684	26959181	54236029	2384	86165											
KIAA0100	9703	broad.mit.edu	37	chr17	26966334	26966334	+	Splice_Site	DEL	T	T	-													tgaaaaagatcagactgaccTttttttcctttgctttagaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						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)					TCAGACTGACCTTTTTTTCCT	0.433													-	26966334	T	-	26966334	8	5	158	1	0	1	0	1	0	0	1	0	8154	1623	56	0	5595	0	KIAA0100	17	26966334	Splice_Site	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	7153	26966334	54228876	2385	86166											
SUPT6H	6830	broad.mit.edu	37	chr17	27013703	27013703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgattgaagatgtgaagCgcattgtacatgagctggac	13	5	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27013703C>T	uc002hby.2	+	21	2686	c.2596C>T	c.(2596-2598)CGC>TGC	p.R866C	SUPT6H_uc010crt.2_Missense_Mutation_p.R866C|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	866					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AGATGTGAAGCGCATTGTACA	0.493													T	27013703	C	T	27013703	3	4	158	1	0	0	0	0	1	0	0	0	15397	768	27	1	2674	1	SUPT6H	17	27013703	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	47369	27013703	54181507	2386	86167											
RAB34	83871	broad.mit.edu	37	chr17	27043061	27043061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcccccaccacaatgacCttggagatcttaaatctgct	7	13	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27043061C>A	uc002hce.2	-	3	786	c.162G>T	c.(160-162)AAG>AAT	p.K54N	RAB34_uc002hcg.2_Missense_Mutation_p.K54N|RAB34_uc002hcf.2_Missense_Mutation_p.K55N|RAB34_uc010was.1_Missense_Mutation_p.K111N|RAB34_uc010wat.1_Missense_Mutation_p.K111N|RAB34_uc002hch.2_Missense_Mutation_p.K54N|RAB34_uc010wau.1_Intron|RAB34_uc010wav.1_Missense_Mutation_p.K112N	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	54					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CCACAATGACCTTGGAGATCT	0.572													A	27043061	C	A	27043061	3	1	158	1	0	0	0	0	1	0	0	0	12924	680	24	5	713	5	RAB34	17	27043061	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	29358	27043061	54152149	2387	86168											
PHF12	57649	broad.mit.edu	37	chr17	27234620	27234620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcacctcatcgtagaaTatgcaggcatgtttcccgga	9	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27234620T>C	uc002hdg.1	-	13	3059	c.2529A>G	c.(2527-2529)ATA>ATG	p.I843M	PHF12_uc010wbb.1_Missense_Mutation_p.I825M	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	843	FHA.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	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)			CATCGTAGAATATGCAGGCAT	0.547													C	27234620	T	C	27234620	3	2	158	1	0	0	0	0	1	0	0	0	11823	1396	49	3	497	3	PHF12	17	27234620	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	191559	27234620	53960590	2388	86169											
PIPOX	51268	broad.mit.edu	37	chr17	27380463	27380463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctaggaggcatagtgcgTgacggagagaaggtggtgga	19	5	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27380463T>C	uc002hdr.1	+	4	836	c.510T>C	c.(508-510)CGT>CGC	p.R170R		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	170					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCATAGTGCGTGACGGAGAGA	0.532													C	27380463	T	C	27380463	2	2	158	1	0	0	0	0	0	0	0	1	11943	1683	59	3		3	PIPOX	17	27380463	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	145843	27380463	53814747	2389	86170											
SSH2	85464	broad.mit.edu	37	chr17	27957940	27957940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaagggggtgagttctgccGtgttgctgacggggtgccac	17	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27957940G>A	uc002heo.1	-	15	4191	c.4191C>T	c.(4189-4191)CAC>CAT	p.H1397H	SSH2_uc010wbh.1_Silent_p.H1424H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1397					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			skin(2)	2						GAGTTCTGCCGTGTTGCTGAC	0.532													A	27957940	G	A	27957940	2	1	158	1	0	0	0	0	0	0	0	1	15184	1136	40	1		1	SSH2	17	27957940	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	577477	27957940	53237270	2390	86171											
SSH2	85464	broad.mit.edu	37	chr17	27963136	27963136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccttcctccacccagttcCtccatccttgaatgggaaaa	5	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27963136C>A	uc002heo.1	-	14	2031	c.2031G>T	c.(2029-2031)GAG>GAT	p.E677D	SSH2_uc010wbh.1_Missense_Mutation_p.E704D	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	677					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			skin(2)	2						CACCCAGTTCCTCCATCCTTG	0.478													A	27963136	C	A	27963136	3	1	158	1	0	0	0	0	1	0	0	0	15184	680	24	5	2248	5	SSH2	17	27963136	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5196	27963136	53232074	2391	86172											
EFCAB5	374786	broad.mit.edu	37	chr17	28382913	28382913	+	Frame_Shift_Del	DEL	A	A	-													ttgcaccttttagaaactacAaaaaaggaagttcagaaaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28382912_28382912CA>C	uc002het.3	+	10	2393	c.2201_2201CA>C	c.(2200-2202)acafs	p.T734fs	EFCAB5_uc010wbi.1_Frame_Shift_Del_p.T477fs|EFCAB5_uc010wbj.2_Frame_Shift_Del_p.T678fs|EFCAB5_uc010wbk.2_Frame_Shift_Del_p.T391fs|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Frame_Shift_Del_p.T613fs|EFCAB5_uc010csf.3_Frame_Shift_Del_p.T613fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	734							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						TTAGAAACTACAAAAAAGGAA	0.328													-	28382913	A	-	28382913	7	5	158	1	0	1	0	1	0	0	0	0	4938	117	5	0	2244	0	EFCAB5	17	28382913	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	419777	28382913	52812297	2392	86173											
BLMH	642	broad.mit.edu	37	chr17	28601209	28601209	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacagatgcacaccactcGgaatatctggaagagaggag	11	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28601209G>A	uc002hez.1	-	7	889	c.652C>T	c.(652-654)CGA>TGA	p.R218*	BLMH_uc010wbn.1_Nonsense_Mutation_p.R131*	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	218					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						CACACCACTCGGAATATCTGG	0.413													A	28601209	G	A	28601209	4	1	158	1	0	0	0	0	0	1	0	0	1446	1124	39	1	739	1	BLMH	17	28601209	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	218296	28601209	52594001	2393	86174											
CPD	1362	broad.mit.edu	37	chr17	28772965	28772965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctggctctttatcgatacCattcctacaaagacttatca	4	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28772965C>A	uc002hfb.1	+	12	2815	c.2800C>A	c.(2800-2802)CAT>AAT	p.H934N	CPD_uc010wbo.1_Missense_Mutation_p.H687N|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	934	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TTATCGATACCATTCCTACAA	0.373													A	28772965	C	A	28772965	3	1	158	1	0	0	0	0	1	0	0	0	3798	594	21	5	2846	5	CPD	17	28772965	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	171756	28772965	52422245	2394	86175											
CPD	1362	broad.mit.edu	37	chr17	28791832	28791832	+	Frame_Shift_Del	DEL	A	A	-													ttatattctagcaaacattgAaaaacacattttgcatatct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28791831_28791831GA>G	uc002hfb.2	+	20	4199	c.4142_4142GA>G	c.(4141-4143)tgafs	p.*1381fs	CPD_uc010wbo.2_Frame_Shift_Del_p.*1134fs|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	0					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGCAAACATTGAAAAACACAT	0.413													-	28791832	A	-	28791832	7	5	158	1	0	1	0	1	0	0	0	0	3798	259	9	0	4225	0	CPD	17	28791832	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	18867	28791832	52403378	2395	86176											
ATAD5	79915	broad.mit.edu	37	chr17	29161690	29161690	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatcctaaacaagggacCacaaaaaatgacttcaaaaa	5	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:29161690C>A	uc002hfs.1	+	2	937	c.591C>A	c.(589-591)ACC>ACA	p.T197T	ATAD5_uc002hft.1_Silent_p.T94T	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	197					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AACAAGGGACCACAAAAAATG	0.338													A	29161690	C	A	29161690	2	1	158	1	0	0	0	0	0	0	0	1	1076	581	21	5		5	ATAD5	17	29161690	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	369858	29161690	52033520	2396	86177											
NF1	4763	broad.mit.edu	37	chr17	29592336	29592337	+	Frame_Shift_Ins	INS	-	-	T													tccaaagctgggaatcctatINStttttattatgttgcacgga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:29592335_29592336A>AT	uc002hgg.3	+	35	5196_5197	c.4813_4814A>AT	c.(4813-4815)attfs	p.I1605fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.I1584fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.I617fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1605	CRAL-TRIO.		I -> V (in NF1).		MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.I1605fs*17(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)		TGGGAATCCTATTTTTTATTAT	0.327			"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)			T	29592337	-	T	29592336	7	5	158	1	0	1	1	0	0	0	0	0	10356	1493	52	0	5017	0	NF1	17	29592336	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	430646	29592336	51602874	2397	86178											
NF1	4763	broad.mit.edu	37	chr17	29654857	29654857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttctgacccgagtttacGgtaggttttttaaaattctc	8	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:29654857G>A	uc002hgg.2	+	38	5942	c.5609G>A	c.(5608-5610)CGG>CAG	p.R1870Q	NF1_uc002hgh.2_Missense_Mutation_p.R1849Q|NF1_uc002hgi.1_Missense_Mutation_p.R882Q|NF1_uc010cso.2_Missense_Mutation_p.R58Q	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1870					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.S1871fs*13(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		CCGAGTTTACGGTAGGTTTTT	0.378			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)			A	29654857	G	A	29654857	3	1	158	1	0	0	0	0	1	0	0	0	10356	1130	39	1	5820	1	NF1	17	29654857	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	62521	29654857	51540353	2398	86179											
MYO1D	4642	broad.mit.edu	37	chr17	30980865	30980865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaagcttgccttaccttaCggacgtgacaggaaaagagg	11	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:30980865C>T	uc002hho.1	-	19	2603	c.2591G>A	c.(2590-2592)CGT>CAT	p.R864H	MYO1D_uc002hhp.1_Missense_Mutation_p.R864H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	864						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTTACCTTACGGACGTGACA	0.413													T	30980865	C	T	30980865	3	4	158	1	0	0	0	0	1	0	0	0	10071	536	19	1	445	1	MYO1D	17	30980865	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1326008	30980865	50214345	2399	86180											
C17orf102	400591	broad.mit.edu	37	chr17	32905984	32905984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccccggacccatcccgCacgaagctgagccccagagc	11	19	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:32905984C>T	uc002hie.1	-	1	405	c.316G>A	c.(316-318)GCG>ACG	p.A106T	TMEM132E_uc002hif.2_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	hypothetical protein LOC400591	106										ovary(1)	1						ACCCATCCCGCACGAAGCTGA	0.632													T	32905984	C	T	32905984	3	4	158	1	0	0	0	0	1	0	0	0	1849	710	25	2	195	2	C17orf102	17	32905984	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1925119	32905984	48289226	2400	86181											
TMEM132E	124842	broad.mit.edu	37	chr17	32955600	32955600	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtgaaggccaagaagggTgtgacccttttaggtaccaa	14	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:32955600T>C	uc002hif.2	+	4	1075	c.747T>C	c.(745-747)GGT>GGC	p.G249G		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	249	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCAAGAAGGGTGTGACCCTTT	0.587													C	32955600	T	C	32955600	2	2	158	1	0	0	0	0	0	0	0	1	16045	1683	59	3		3	TMEM132E	17	32955600	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	49616	32955600	48239610	2401	86182											
NLE1	54475	broad.mit.edu	37	chr17	33460365	33460365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttggccctacctcatccGcgtggccgggcaggtccatg	15	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33460365G>A	uc002hiy.1	-	11	1395	c.1367C>T	c.(1366-1368)GCG>GTG	p.A456V	NLE1_uc010ctn.1_Missense_Mutation_p.A164V|NLE1_uc002hiz.1_Missense_Mutation_p.A164V	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	456	WD 8.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				TACCTCATCCGCGTGGCCGGG	0.642													A	33460365	G	A	33460365	3	1	158	1	0	0	0	0	1	0	0	0	10460	1087	38	1	102	1	NLE1	17	33460365	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	504765	33460365	47734845	2402	86183											
UNC45B	146862	broad.mit.edu	37	chr17	33496901	33496901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacagactacggtctcAggcagtttgcggaagggtcg	16	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33496901A>G	uc002hja.2	+	11	1595	c.1498A>G	c.(1498-1500)AGG>GGG	p.R500G	UNC45B_uc002hjb.2_Missense_Mutation_p.R500G|UNC45B_uc002hjc.2_Missense_Mutation_p.R500G|UNC45B_uc010cto.2_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	500					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				CTACGGTCTCAGGCAGTTTGC	0.582													G	33496901	A	G	33496901	3	3	158	1	0	0	0	0	1	0	0	0	16986	179	7	3	1536	3	UNC45B	17	33496901	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	36536	33496901	47698309	2403	86184											
SLFN13	146857	broad.mit.edu	37	chr17	33767971	33767971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagtaaagtttttaatAatctttgtgttgcctggaac	7	6	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33767971A>G	uc002hjk.1	-	4	2667	c.2337T>C	c.(2335-2337)ATT>ATC	p.I779I	SLFN13_uc010wch.1_Silent_p.I779I|SLFN13_uc002hjl.2_Silent_p.I779I|SLFN13_uc010ctt.2_Silent_p.I461I|SLFN13_uc002hjm.2_Silent_p.I448I	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	779						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGTTTTTAATAATCTTTGTGT	0.413													G	33767971	A	G	33767971	2	3	158	1	0	0	0	0	0	0	0	1	14736	358	13	3		3	SLFN13	17	33767971	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	271070	33767971	47427239	2404	86185											
AP2B1	163	broad.mit.edu	37	chr17	33998845	33998845	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacacctgctgtggtcagcAgtggactgaatgacctgttt	11	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33998845A>C	uc002hjr.2	+	15	2251	c.2062A>C	c.(2062-2064)AGT>CGT	p.S688R	AP2B1_uc002hjq.2_Missense_Mutation_p.S702R|AP2B1_uc010wci.1_Missense_Mutation_p.S664R|AP2B1_uc002hjs.2_Missense_Mutation_p.S631R|AP2B1_uc002hjt.2_Missense_Mutation_p.S702R|AP2B1_uc010ctv.2_Missense_Mutation_p.S702R|AP2B1_uc010wcj.1_Missense_Mutation_p.S439R	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	688	Pro-rich (stalk region).				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			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGTGGTCAGCAGTGGACTGAA	0.493													C	33998845	A	C	33998845	3	2	158	1	0	0	0	0	1	0	0	0	741	188	7	5	2162	5	AP2B1	17	33998845	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	230874	33998845	47196365	2405	86186											
RASL10B	91608	broad.mit.edu	37	chr17	34068074	34068074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatcggaacctcagagaCgcccatcatcatcgtgggca	12	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:34068074C>T	uc002hju.2	+	4	728	c.362C>T	c.(361-363)ACG>ATG	p.T121M		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	121	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCAGAGACGCCCATCATC	0.657													T	34068074	C	T	34068074	3	4	158	1	0	0	0	0	1	0	0	0	13080	536	19	1	372	1	RASL10B	17	34068074	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	69229	34068074	47127136	2406	86187											
MMP28	79148	broad.mit.edu	37	chr17	34095247	34095247	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaccagtgggaccttcttAcctacagtgatggcatcgaa	10	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:34095247A>G	uc002hjy.1	-	8	1259	c.1000_splice	c.e8+1	p.D334_splice	MMP28_uc002hjw.1_Splice_Site|MMP28_uc002hjz.1_Splice_Site	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1						proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGACCTTCTTACCTACAGTGA	0.527													G	34095247	A	G	34095247	5	3	158	1	0	0	0	0	0	0	1	0	9665	405	14	3	572	3	MMP28	17	34095247	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	27173	34095247	47099963	2407	86188											
MYO19	80179	broad.mit.edu	37	chr17	34871799	34871799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtgaggtggccaccacaGcatagaacttcattaggcag	12	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:34871799G>T	uc010wcy.1	-	8	1441	c.449C>A	c.(448-450)GCT>GAT	p.A150D	MYO19_uc002hmw.2_Missense_Mutation_p.A150D|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Missense_Mutation_p.A16D|MYO19_uc002hmx.2_Missense_Mutation_p.A150D	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	150	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCCACCACAGCATAGAACTT	0.537													T	34871799	G	T	34871799	3	4	158	1	0	0	0	0	1	0	0	0	10067	971	34	5	2603	5	MYO19	17	34871799	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	776552	34871799	46323411	2408	86189											
AATF	26574	broad.mit.edu	37	chr17	35307639	35307639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggacaaaaggtattgcGgcaaaaccacctctagaaaa	8	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:35307639G>A	uc002hni.2	+	2	468	c.217G>A	c.(217-219)GGC>AGC	p.G73S	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	73					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				0		Breast(25;0.00607)				AAGGTATTGCGGCAAAACCAC	0.468													A	35307639	G	A	35307639	3	1	158	1	0	0	0	0	1	0	0	0	25	1116	39	1	223	1	AATF	17	35307639	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	435840	35307639	45887571	2409	86190											
ACACA	31	broad.mit.edu	37	chr17	35620760	35620760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagattgtttggctagtctcAtcacaaatatgggagatcca	10	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:35620760A>G	uc002hnm.2	-	11	1237	c.1046T>C	c.(1045-1047)ATG>ACG	p.M349T	ACACA_uc002hnk.2_Missense_Mutation_p.M271T|ACACA_uc002hnl.2_Missense_Mutation_p.M291T|ACACA_uc002hnn.2_Missense_Mutation_p.M349T|ACACA_uc002hno.2_Missense_Mutation_p.M386T|ACACA_uc010cuz.2_Missense_Mutation_p.M349T	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	349	Biotin carboxylation.|ATP-grasp.				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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCTAGTCTCATCACAAATAT	0.388													G	35620760	A	G	35620760	3	3	158	1	0	0	0	0	1	0	0	0	106	217	8	3	6178	3	ACACA	17	35620760	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	313121	35620760	45574450	2410	86191											
HNF1B	6928	broad.mit.edu	37	chr17	36059174	36059174	+	Frame_Shift_Del	DEL	G	G	-													ccgggaggtgtgggaatactGggggggttcctgcttgtgtg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36059173_36059173TG>T	uc002hok.4	-	7	1783	c.1562_1562CA>A	c.(1561-1563)cagfs	p.Q521fs	HNF1B_uc021tvu.1_Frame_Shift_Del_p.Q226fs|HNF1B_uc010wdi.2_Frame_Shift_Del_p.Q495fs|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	521					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)			GTGGGAATACTGGGGGGGTTC	0.512													-	36059174	G	-	36059174	7	5	158	1	0	1	0	1	0	0	0	0	7252	1357	47	0	120	0	HNF1B	17	36059174	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	438414	36059174	45136036	2411	86192											
GPR179	440435	broad.mit.edu	37	chr17	36485586	36485586	+	Frame_Shift_Del	DEL	T	T	-													ttccccgggcctcccctctcTttttttgggagtcacctggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36485585_36485585CT>C	uc002hpz.3	-	10	3888	c.3867_3867AG>G	c.(3865-3867)aagfs	p.K1289fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1289						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)				CCTCCCCTCTCTTTTTTTGGG	0.572													-	36485586	T	-	36485586	7	5	158	1	0	1	0	1	0	0	0	0	6674	1609	56	0	3241	0	GPR179	17	36485586	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	426412	36485586	44709624	2412	86193											
GPR179	440435	broad.mit.edu	37	chr17	36499264	36499264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggtccccctcggccaCgctgcggaccagtgcctggt	13	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36499264C>T	uc002hpz.2	-	1	430	c.409G>A	c.(409-411)GTG>ATG	p.V137M		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	137	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCTCGGCCACGCTGCGGACC	0.622													T	36499264	C	T	36499264	3	4	158	1	0	0	0	0	1	0	0	0	6674	536	19	1	6738	1	GPR179	17	36499264	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	13678	36499264	44695946	2413	86194											
SRCIN1	80725	broad.mit.edu	37	chr17	36705305	36705305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtaccttgatgaaggccGagtccttcttgctggtgacc	13	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36705305G>A	uc002hqd.2	-	16	3329	c.3104C>T	c.(3103-3105)TCG>TTG	p.S1035L	SRCIN1_uc002hqf.1_Missense_Mutation_p.S907L|SRCIN1_uc002hqe.2_Missense_Mutation_p.S889L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	907					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GATGAAGGCCGAGTCCTTCTT	0.632													A	36705305	G	A	36705305	3	1	158	1	0	0	0	0	1	0	0	0	15135	1059	37	1	463	1	SRCIN1	17	36705305	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	206041	36705305	44489905	2414	86195											
RPL23	9349	broad.mit.edu	37	chr17	37009328	37009328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaagacccaaggaaatcCggaatttcgcaccagaggac	11	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37009328C>T	uc002hqx.1	-	2	134	c.44G>A	c.(43-45)CGG>CAG	p.R15Q	RPL23_uc002hqw.1_5'UTR|RPL23_uc002hqy.1_Missense_Mutation_p.R15Q|SNORA21_uc002hqz.1_5'Flank	NM_000978	NP_000969	P62829	RL23_HUMAN	ribosomal protein L23	15					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome				0						CAAGGAAATCCGGAATTTCGC	0.483													T	37009328	C	T	37009328	3	4	158	1	0	0	0	0	1	0	0	0	13570	652	23	1	394	1	RPL23	17	37009328	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	304023	37009328	44185882	2415	86196											
CACNB1	782	broad.mit.edu	37	chr17	37341052	37341052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctcgtagcccttgagCgacggtcccaccaggatgat	10	15	0	2	rs141549614		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37341052C>T	uc002hrm.1	-	8	867	c.714G>A	c.(712-714)TCG>TCA	p.S238S	CACNB1_uc002hrl.1_Silent_p.S10S|CACNB1_uc002hrn.2_Silent_p.S238S|CACNB1_uc002hro.2_Silent_p.S283S|CACNB1_uc002hrp.1_3'UTR	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	238					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	AGCCCTTGAGCGACGGTCCCA	0.607													T	37341052	C	T	37341052	2	4	158	1	0	0	0	0	0	0	0	1	2552	755	27	1		1	CACNB1	17	37341052	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	331724	37341052	43854158	2416	86197											
NEUROD2	4761	broad.mit.edu	37	chr17	37762007	37762007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggctcgcgccgccaccGcctgccgccgcatacagcgt	12	20	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37762007G>A	uc002hry.2	-	2	1046	c.846C>T	c.(844-846)GGC>GGT	p.G282G		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	282	Poly-Gly.				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				0	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)			CGCCGCCACCGCCTGCCGCCG	0.567													A	37762007	G	A	37762007	2	1	158	1	0	0	0	0	0	0	0	1	10349	1074	38	1		1	NEUROD2	17	37762007	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	420955	37762007	43433203	2417	86198											
GRB7	2886	broad.mit.edu	37	chr17	37900454	37900454	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattactccaccaagggcacCtctaaggtaaggtcttgagg	10	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37900454C>A	uc002hsr.2	+	7	1045	c.795C>A	c.(793-795)ACC>ACA	p.T265T	GRB7_uc002hss.2_Silent_p.T265T|GRB7_uc010cwc.2_Silent_p.T265T|GRB7_uc002hst.2_Silent_p.T265T	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	265	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)			CCAAGGGCACCTCTAAGGTAA	0.572													A	37900454	C	A	37900454	2	1	158	1	0	0	0	0	0	0	0	1	6759	668	24	5		5	GRB7	17	37900454	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	138447	37900454	43294756	2418	86199											
IKZF3	22806	broad.mit.edu	37	chr17	37922387	37922387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatagatgtgattctggcGttcttcatggttgctgtcag	12	7	4	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37922387G>A	uc002hsu.2	-	8	1248	c.1186C>T	c.(1186-1188)CGC>TGC	p.R396C	IKZF3_uc002htd.2_Missense_Mutation_p.R362C|IKZF3_uc010cwd.2_Missense_Mutation_p.R253C|IKZF3_uc002hsv.2_Missense_Mutation_p.R323C|IKZF3_uc010cwe.2_Missense_Mutation_p.R262C|IKZF3_uc010cwf.2_Missense_Mutation_p.R214C|IKZF3_uc010cwg.2_Missense_Mutation_p.R175C|IKZF3_uc002hsw.2_Missense_Mutation_p.R357C|IKZF3_uc002hsx.2_Missense_Mutation_p.R340C|IKZF3_uc002hsy.2_Missense_Mutation_p.R357C|IKZF3_uc002hsz.2_Missense_Mutation_p.R301C|IKZF3_uc002hta.2_Missense_Mutation_p.R318C|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R309C|IKZF3_uc002htc.2_Missense_Mutation_p.R149C|IKZF3_uc010wel.1_Missense_Mutation_p.R149C	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	396					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			lung(2)|kidney(2)|skin(2)	6	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)			TGATTCTGGCGTTCTTCATGG	0.537													A	37922387	G	A	37922387	3	1	158	1	0	0	0	0	1	0	0	0	7616	1145	40	1	347	1	IKZF3	17	37922387	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	21933	37922387	43272823	2419	86200											
GSDMB	55876	broad.mit.edu	37	chr17	38062138	38062138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccagaatggcttttgcaCgcgcttctaccaagacccca	8	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:38062138C>T	uc010cwj.2	-	8	994	c.989G>A	c.(988-990)CGT>CAT	p.R330H	GSDMB_uc010cwi.2_Missense_Mutation_p.R77H|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.R308H|GSDMB_uc002hth.2_Missense_Mutation_p.R317H|GSDMB_uc010wem.1_Missense_Mutation_p.R321H	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	325						cytoplasm				breast(1)|pancreas(1)	2						GGCTTTTGCACGCGCTTCTAC	0.567													T	38062138	C	T	38062138	3	4	158	1	0	0	0	0	1	0	0	0	6817	536	19	1	273	1	GSDMB	17	38062138	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	139751	38062138	43133072	2420	86201											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305582	39305582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccacagactggacgcacGcagcagcaggggcggcagca	16	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:39305582G>A	uc002hwb.2	-	1	473	c.438C>T	c.(436-438)TGC>TGT	p.C146C		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	151	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|27.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGACGCACgcagcagcagg	0.378													A	39305582	G	A	39305582	2	1	158	1	0	0	0	0	0	0	0	1	8554	1079	38	1		1	KRTAP4-5	17	39305582	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1243444	39305582	41889628	2421	86202											
ACLY	47	broad.mit.edu	37	chr17	40054009	40054009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggagttaccttgtggCatggcaggcttggccttctt	13	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:40054009C>T	uc002hyg.2	-	13	1585	c.1422G>A	c.(1420-1422)ATG>ATA	p.M474I	ACLY_uc002hyh.2_Missense_Mutation_p.M474I|ACLY_uc002hyi.2_Missense_Mutation_p.M528I|ACLY_uc010wfx.1_Missense_Mutation_p.M528I|ACLY_uc010wfy.1_Missense_Mutation_p.M213I	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	474					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			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				TACCTTGTGGCATGGCAGGCT	0.602													T	40054009	C	T	40054009	3	4	158	1	0	0	0	0	1	0	0	0	143	710	25	2	1951	2	ACLY	17	40054009	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	748427	40054009	41141201	2422	86203											
KCNH4	23415	broad.mit.edu	37	chr17	40327731	40327731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggactgggacacataggTggtgcggaagttcaggatga	17	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:40327731T>C	uc002hzb.2	-	6	1186	c.853A>G	c.(853-855)ACC>GCC	p.T285A		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	285	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACACATAGGTGGTGCGGAAG	0.552													C	40327731	T	C	40327731	3	2	158	1	0	0	0	0	1	0	0	0	8034	1696	59	3	2244	3	KCNH4	17	40327731	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	273722	40327731	40867479	2423	86204											
RAMP2	10266	broad.mit.edu	37	chr17	40914762	40914762	+	Frame_Shift_Del	DEL	C	C	-													gtgcagcccaccttctctgaCcccccagaggatgtactcct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:40914761_40914761AC>A	uc002ibg.3	+	3	487	c.419_419AC>A	c.(418-420)gacfs	p.D140fs	LOC100190938_uc002ibe.4_5'Flank|LOC100190938_uc002ibf.4_5'Flank|RAMP2_uc010cyt.3_Frame_Shift_Del_p.D145fs|RAMP2_uc021txv.1_Non-coding_Transcript	NM_005854	NP_005845	O60895	RAMP2_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 2 (RAMP2), mRNA.	140					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	ACCTTCTCTGACCCCCCAGAG	0.547													-	40914762	C	-	40914762	7	5	158	1	0	1	0	1	0	0	0	0	13022	506	18	0	434	0	RAMP2	17	40914762	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	587031	40914762	40280448	2424	86205											
AOC2	314	broad.mit.edu	37	chr17	41001152	41001152	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtttaaacctgtggcTgccccctggaacccggagca	13	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:41001152T>G	uc002ibu.2	+	2	1673	c.1638T>G	c.(1636-1638)GCT>GCG	p.A546A	AOC2_uc002ibt.2_Silent_p.A546A|AOC3_uc002ibv.2_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	546					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			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AACCTGTGGCTGCCCCCTGGA	0.592													G	41001152	T	G	41001152	2	3	158	1	0	0	0	0	0	0	0	1	727	1567	55	5		5	AOC2	17	41001152	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	86390	41001152	40194058	2425	86206											
BRCA1	672	broad.mit.edu	37	chr17	41219626	41219626	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggttcttggtataccTgttttcataacaacatgagt	8	6	2	1	rs80356853		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:41219626T>G	uc002icq.2	-	16	5305	c.5073A>C	c.(5071-5073)ACA>ACC	p.T1691T	BRCA1_uc010whp.1_Silent_p.T540T|BRCA1_uc010whl.1_Silent_p.T587T|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.T1620T|BRCA1_uc002icu.2_Silent_p.T587T|BRCA1_uc010cyx.2_Silent_p.T1644T|BRCA1_uc002ict.2_Silent_p.T1712T|BRCA1_uc010whn.1_Silent_p.T182T|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.T420T|BRCA1_uc002idc.1_Silent_p.T587T|BRCA1_uc010whr.1_Silent_p.T541T	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1691	BRCT 1.				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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGTATACCTGTTTTCATAA	0.274			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			G	41219626	T	G	41219626	2	3	158	1	0	0	0	0	0	0	0	1	1498	1594	55	5		5	BRCA1	17	41219626	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	218474	41219626	39975584	2426	86207											
DHX8	1659	broad.mit.edu	37	chr17	41570312	41570312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggataagcatgtggaccGccctcctccagaagagccca	12	14	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:41570312G>A	uc002idu.1	+	6	840	c.767G>A	c.(766-768)CGC>CAC	p.R256H	DHX8_uc010wif.1_Missense_Mutation_p.R165H|DHX8_uc010wig.1_Missense_Mutation_p.R256H	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	256						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CATGTGGACCGCCCTCCTCCA	0.527													A	41570312	G	A	41570312	3	1	158	1	0	0	0	0	1	0	0	0	4515	1087	38	1	789	1	DHX8	17	41570312	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	350686	41570312	39624898	2427	86208											
ATXN7L3	56970	broad.mit.edu	37	chr17	42275016	42275016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaagaagaagtagccaCacttgacagcccggtgtacc	10	13	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42275016C>T	uc002iga.2	-	2	225	c.134G>A	c.(133-135)TGT>TAT	p.C45Y	ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Missense_Mutation_p.C45Y	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	45					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				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAAGTAGCCACACTTGACAGC	0.567													T	42275016	C	T	42275016	3	4	158	1	0	0	0	0	1	0	0	0	1218	478	17	4	974	4	ATXN7L3	17	42275016	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	704704	42275016	38920194	2428	86209											
ITGA2B	3674	broad.mit.edu	37	chr17	42453086	42453087	+	Splice_Site	INS	-	-	G													gggcagcccccagtccacctINSgggggggcaaaggagtggtc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42453086_42453087insG	uc002igt.1	-	26	2634	c.2602_splice	c.e26-1	p.V868_splice	ITGA2B_uc002igu.1_Intron	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein						axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCAGTCCACCTGGGGGGGCAAA	0.688													G	42453087	-	G	42453086	8	5	158	1	0	1	1	0	0	0	1	0	7876	1594	55	0	539	0	ITGA2B	17	42453086	Splice_Site	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	178070	42453086	38742124	2429	86210											
EFTUD2	9343	broad.mit.edu	37	chr17	42928721	42928721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaatttgctgatgctcAcatcttcactgaggccctgc	9	12	3	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42928721A>G	uc002ihn.2	-	28	3101	c.2840T>C	c.(2839-2841)GTG>GCG	p.V947A	EFTUD2_uc010wje.1_Missense_Mutation_p.V912A|EFTUD2_uc010wjf.1_Missense_Mutation_p.V937A	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	947						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				GCTGATGCTCACATCTTCACT	0.507													G	42928721	A	G	42928721	3	3	158	1	0	0	0	0	1	0	0	0	4961	159	6	3	82	3	EFTUD2	17	42928721	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	475635	42928721	38266489	2430	86211											
EFTUD2	9343	broad.mit.edu	37	chr17	42942396	42942396	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatgccaagctcgtctAgggtccgtgggaggctggtg	19	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42942396A>C	uc002ihn.2	-	14	1448	c.1187T>G	c.(1186-1188)CTA>CGA	p.L396R	EFTUD2_uc010wje.1_Missense_Mutation_p.L361R|EFTUD2_uc010wjf.1_Missense_Mutation_p.L386R	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	396						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				AAGCTCGTCTAGGGTCCGTGG	0.562											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	42942396	A	C	42942396	3	2	158	1	0	0	0	0	1	0	0	0	4961	420	15	5	1791	5	EFTUD2	17	42942396	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	13675	42942396	38252814	2431	86212											
FMNL1	752	broad.mit.edu	37	chr17	43318961	43318961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactccgagcggcggtgaTgctccgactccgggggtgcc	16	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:43318961T>C	uc002iin.2	+	14	1745	c.1545T>C	c.(1543-1545)GAT>GAC	p.D515D	FMNL1_uc002iiq.2_Silent_p.D93D|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	515	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GCGGCGGTGATGCTCCGACTC	0.701													C	43318961	T	C	43318961	2	2	158	1	0	0	0	0	0	0	0	1	5951	1461	51	3		3	FMNL1	17	43318961	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	376565	43318961	37876249	2432	86213											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531269	43531269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaggcagccctggggcGcctcggggggttcctcaggc	19	12	1	1	rs148973891		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:43531269G>A	uc002ija.2	-	7	2119	c.1949C>T	c.(1948-1950)GCG>GTG	p.A650V	PLEKHM1_uc010wjm.1_Missense_Mutation_p.A622V|PLEKHM1_uc002ijb.2_Missense_Mutation_p.A125V|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A599V|PLEKHM1_uc002ijc.2_Missense_Mutation_p.A104V	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	650					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GCCCTGGGGCGCCTCGGGGGG	0.682													A	43531269	G	A	43531269	3	1	158	1	0	0	0	0	1	0	0	0	12080	1087	38	1	1245	1	PLEKHM1	17	43531269	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	212308	43531269	37663941	2433	86214											
OSBPL7	114881	broad.mit.edu	37	chr17	45890696	45890696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtaggtctcccccaggacaGggttgaagggcttgcagccg	15	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:45890696G>T	uc002ilx.1	-	16	1876	c.1673C>A	c.(1672-1674)CCT>CAT	p.P558H	OSBPL7_uc002ilw.1_Missense_Mutation_p.P120H	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	558					lipid transport		lipid binding				0						CCCCAGGACAGGGTTGAAGGG	0.622													T	45890696	G	T	45890696	3	4	158	1	0	0	0	0	1	0	0	0	11282	1000	35	5	887	5	OSBPL7	17	45890696	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2359427	45890696	35304514	2434	86215											
HOXB3	3213	broad.mit.edu	37	chr17	46629396	46629396	+	Frame_Shift_Del	DEL	G	G	-													agagaactggtacctgtgccGggggagttgtttttcagctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:46629395_46629395CG>C	uc002inn.3	-	0	842	c.442_442CG>G	c.(442-444)ggcfs	p.G148fs	HOXB3_uc010wlm.2_Frame_Shift_Del_p.G75fs|HOXB3_uc010dbf.3_Frame_Shift_Del_p.G148fs|HOXB3_uc010dbg.3_Frame_Shift_Del_p.G148fs|HOXB3_uc002ino.3_Frame_Shift_Del_p.G148fs|HOXB3_uc010wlk.2_Frame_Shift_Del_p.G16fs|HOXB3_uc010wll.2_Frame_Shift_Del_p.G75fs	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	148					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GTACCTGTGCCGGGGGAGTTG	0.567													-	46629396	G	-	46629396	7	5	158	1	0	1	0	1	0	0	0	0	7302	1103	39	0	862	0	HOXB3	17	46629396	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	738700	46629396	34565814	2435	86216											
HOXB3	3213	broad.mit.edu	37	chr17	46629737	46629738	+	Frame_Shift_Ins	INS	-	-	G													gcggcctgaaatgggggttgINSgggggggacatcgaagccga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:46629736_46629737T>TG	uc002inn.3	-	0	500_501	c.100_101A>CA	c.(100-102)caafs	p.Q34fs	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010dbg.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc002ino.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010wlk.2_Intron|HOXB3_uc010wll.2_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	34					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						AAATGGGGGTTGGGGGGGGACA	0.634													G	46629738	-	G	46629737	7	5	158	1	0	1	1	0	0	0	0	0	7302	1357	47	0	1203	0	HOXB3	17	46629737	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	341	46629737	34565473	2436	86217											
IGF2BP1	10642	broad.mit.edu	37	chr17	47075284	47075284	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgaaactttctccggTaagaacacagccacctcccg	7	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:47075284T>C	uc002iom.2	+	1	509	c.175_splice	c.e1+2	p.G59_splice	IGF2BP1_uc010dbj.2_Splice_Site_p.G59_splice	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding						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			kidney(1)	1						CTTTCTCCGGTAAGAACACAG	0.607													C	47075284	T	C	47075284	5	2	158	1	0	0	0	0	0	0	1	0	7573	1652	57	3	179	3	IGF2BP1	17	47075284	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	445547	47075284	34119926	2437	86218											
ZNF652	22834	broad.mit.edu	37	chr17	47394555	47394555	+	Frame_Shift_Del	DEL	T	T	-													ctttctctactatcttctccTttttcttctgcttttcattc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:47394554_47394554CT>C	uc002iov.4	-	1	998	c.534_534AG>G	c.(532-534)aagfs	p.K178fs	ZNF652_uc002iow.3_Frame_Shift_Del_p.K178fs|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	178	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTATCTTCTCCTTTTTCTTCT	0.478													-	47394555	T	-	47394555	7	5	158	1	0	1	0	1	0	0	0	0	18062	1609	56	0	1307	0	ZNF652	17	47394555	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	319271	47394555	33800655	2438	86219											
NXPH3	11248	broad.mit.edu	37	chr17	47656635	47656635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagattacaactaccatagTgataccccctactacccatc	3	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:47656635T>C	uc002ipa.2	+	2	1016	c.732T>C	c.(730-732)AGT>AGC	p.S244S	NXPH3_uc010wlw.1_Intron	NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3 precursor	244	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				pancreas(1)|skin(1)	2	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ACTACCATAGTGATACCCCCT	0.597													C	47656635	T	C	47656635	2	2	158	1	0	0	0	0	0	0	0	1	10792	1693	59	3		3	NXPH3	17	47656635	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	262080	47656635	33538575	2439	86220											
COL1A1	1277	broad.mit.edu	37	chr17	48272975	48272975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggggccaggctcaccacGcacaccctggggaccttcag	14	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48272975G>A	uc002iqm.2	-	17	1234	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	370	Triple-helical region.			R -> L (in Ref. 6; AAB59373).	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(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGCTCACCACGCACACCCTGG	0.612			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48272975	G	A	48272975	3	1	158	1	0	0	0	0	1	0	0	0	3677	1087	38	1	3426	1	COL1A1	17	48272975	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	616340	48272975	32922235	2440	86221											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	158	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	160992	48433967	32761243	2441	86222											
LRRC59	55379	broad.mit.edu	37	chr17	48474629	48474629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaggtccagttcgttgCcgtccagcttgtcgcggagg	15	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48474629C>T	uc002iqt.2	-	1	204	c.50G>A	c.(49-51)GGC>GAC	p.G17D		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	17	Cytoplasmic (Potential).|LRR 1.					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGTTCGTTGCCGTCCAGCTT	0.692											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48474629	C	T	48474629	3	4	158	1	0	0	0	0	1	0	0	0	9015	739	26	2	901	2	LRRC59	17	48474629	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	40662	48474629	32720581	2442	86223											
RSAD1	55316	broad.mit.edu	37	chr17	48561838	48561838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccccagctgaccctgtgGgatgtgtttggagcgaacaa	14	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48561838G>T	uc002iqw.1	+	8	1199	c.1143G>T	c.(1141-1143)TGG>TGT	p.W381C	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	381					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGACCCTGTGGGATGTGTTTG	0.647													T	48561838	G	T	48561838	3	4	158	1	0	0	0	0	1	0	0	0	13694	1241	43	5	1173	5	RSAD1	17	48561838	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	87209	48561838	32633372	2443	86224											
MYCBPAP	84073	broad.mit.edu	37	chr17	48603347	48603347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggggacaaggagcacGtcagccccatagccacagag	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48603347G>A	uc010wmr.1	+	14	2179	c.2017G>A	c.(2017-2019)GTC>ATC	p.V673I	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	636					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGGAGCACGTCAGCCCCAT	0.597													A	48603347	G	A	48603347	3	1	158	1	0	0	0	0	1	0	0	0	10019	1145	40	1	2071	1	MYCBPAP	17	48603347	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	41509	48603347	32591863	2444	86225											
SPATA20	64847	broad.mit.edu	37	chr17	48628211	48628211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgggtgccaccgagccgcTgacctcaggccagctcctca	12	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48628211T>C	uc002irf.2	+	10	1409	c.1268T>C	c.(1267-1269)CTG>CCG	p.L423P	SPATA20_uc002irc.2_Missense_Mutation_p.L90P|SPATA20_uc002ire.2_Missense_Mutation_p.L379P|SPATA20_uc002ird.2_Missense_Mutation_p.L439P|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	423					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACCGAGCCGCTGACCTCAGGC	0.642											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	48628211	T	C	48628211	3	2	158	1	0	0	0	0	1	0	0	0	15005	1580	55	3	1358	3	SPATA20	17	48628211	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	24864	48628211	32566999	2445	86226											
CACNA1G	8913	broad.mit.edu	37	chr17	48696047	48696047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtgaccaggagtccaCctgctacaacacggtcatct	10	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48696047C>T	uc002irk.1	+	33	5831	c.5459C>T	c.(5458-5460)ACC>ATC	p.T1820I	CACNA1G_uc002irj.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irl.1_Missense_Mutation_p.T1797I|CACNA1G_uc002irm.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irn.1_Missense_Mutation_p.T1779I|CACNA1G_uc002iro.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irp.1_Missense_Mutation_p.T1820I|CACNA1G_uc002irq.1_Missense_Mutation_p.T1797I|CACNA1G_uc002irr.1_Missense_Mutation_p.T1820I|CACNA1G_uc002irs.1_Missense_Mutation_p.T1809I|CACNA1G_uc002irt.1_Missense_Mutation_p.T1802I|CACNA1G_uc002irv.1_Missense_Mutation_p.T1809I|CACNA1G_uc002irw.1_Missense_Mutation_p.T1797I|CACNA1G_uc002iru.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irx.1_Missense_Mutation_p.T1733I|CACNA1G_uc002iry.1_Missense_Mutation_p.T1722I|CACNA1G_uc002irz.1_Missense_Mutation_p.T1726I|CACNA1G_uc002isa.1_Missense_Mutation_p.T1699I|CACNA1G_uc002isb.1_Missense_Mutation_p.T1740I|CACNA1G_uc002isc.1_Missense_Mutation_p.T1722I|CACNA1G_uc002isd.1_Missense_Mutation_p.T1708I|CACNA1G_uc002ise.1_Missense_Mutation_p.T1688I|CACNA1G_uc002isf.1_Missense_Mutation_p.T1715I|CACNA1G_uc002isg.1_Missense_Mutation_p.T1681I|CACNA1G_uc002ish.1_Missense_Mutation_p.T1688I|CACNA1G_uc002isi.1_Missense_Mutation_p.T1676I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1820	IV.|Extracellular (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	CAGGAGTCCACCTGCTACAAC	0.572													T	48696047	C	T	48696047	3	4	158	1	0	0	0	0	1	0	0	0	2544	507	18	4	5856	4	CACNA1G	17	48696047	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	67836	48696047	32499163	2446	86227											
CACNA1G	8913	broad.mit.edu	37	chr17	48697164	48697164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcccttctgcccccAgcctgggaggctccgaccca	9	20	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48697164A>G	uc002irk.1	+	34	6274	c.5902A>G	c.(5902-5904)AGC>GGC	p.S1968G	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Missense_Mutation_p.S1934G|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1968G|CACNA1G_uc002irq.1_Missense_Mutation_p.S1945G|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Missense_Mutation_p.S1957G|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Missense_Mutation_p.S1934G|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.S1870G|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Missense_Mutation_p.S1836G|CACNA1G_uc002isf.1_Missense_Mutation_p.S1863G|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1968	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	TTCTGCCCCCAGCCTGGGAGG	0.667													G	48697164	A	G	48697164	3	3	158	1	0	0	0	0	1	0	0	0	2544	188	7	3	6303	3	CACNA1G	17	48697164	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1117	48697164	32498046	2447	86228											
CACNA1G	8913	broad.mit.edu	37	chr17	48704019	48704019	+	Frame_Shift_Del	DEL	C	C	-													aaggatcccttggcctctggCccccctgacagcatggctgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48704018_48704018GC>G	uc002irk.1	+	37	7412	c.7040_7040GC>G	c.(7039-7041)ggcfs	p.G2347fs	CACNA1G_uc002irj.1_Frame_Shift_Del_p.G2141fs|CACNA1G_uc002irl.1_Frame_Shift_Del_p.G2231fs|CACNA1G_uc002irm.1_Frame_Shift_Del_p.G2268fs|CACNA1G_uc002irn.1_Frame_Shift_Del_p.G2213fs|CACNA1G_uc002iro.1_Frame_Shift_Del_p.G2220fs|CACNA1G_uc002irp.1_Frame_Shift_Del_p.G2302fs|CACNA1G_uc002irq.1_Frame_Shift_Del_p.G2324fs|CACNA1G_uc002irr.1_Frame_Shift_Del_p.G2254fs|CACNA1G_uc002irs.1_Frame_Shift_Del_p.G2291fs|CACNA1G_uc002irt.1_Frame_Shift_Del_p.G2236fs|CACNA1G_uc002iru.1_Frame_Shift_Del_p.G2313fs|CACNA1G_uc002irv.1_Frame_Shift_Del_p.G2243fs|CACNA1G_uc002irw.1_Frame_Shift_Del_p.G2276fs|CACNA1G_uc002irx.1_Frame_Shift_Del_p.G2088fs|CACNA1G_uc002iry.1_Frame_Shift_Del_p.G2077fs|CACNA1G_uc002isg.1_Frame_Shift_Del_p.G2115fs|CACNA1G_uc002ish.1_Frame_Shift_Del_p.G2122fs|CACNA1G_uc002isi.1_Frame_Shift_Del_p.G2110fs|CACNA1G_uc002irz.1_Frame_Shift_Del_p.G2160fs|CACNA1G_uc002isa.1_Frame_Shift_Del_p.G2133fs|CACNA1G_uc002isd.1_Frame_Shift_Del_p.G2142fs|CACNA1G_uc002isb.1_Frame_Shift_Del_p.G2174fs|CACNA1G_uc002isc.1_Frame_Shift_Del_p.G2249fs|CACNA1G_uc002ise.1_Frame_Shift_Del_p.G2170fs|CACNA1G_uc002isf.1_Frame_Shift_Del_p.G2197fs	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2347					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)	TTGGCCTCTGGCCCCCCTGAC	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	48704019	C	-	48704019	7	5	158	1	0	1	0	1	0	0	0	0	2544	726	26	0	7458	0	CACNA1G	17	48704019	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	6855	48704019	32491191	2448	86229											
KIF2B	84643	broad.mit.edu	37	chr17	51902014	51902014	+	Frame_Shift_Del	DEL	A	A	-													ttaagatatgcaaacagagtAaaaaaattaaatgtagatgt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:51902013_51902013TA>T	uc002iua.2	+	0	1775	c.1619_1619TA>T	c.(1618-1620)gtafs	p.V540fs	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	540					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R539R(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAAACAGAGTAAAAAAATTA	0.418													-	51902014	A	-	51902014	7	5	158	1	0	1	0	1	0	0	0	0	8298	349	13	0	1622	0	KIF2B	17	51902014	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	3197995	51902014	29293196	2449	86230											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	158	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	4533147	56435161	24760049	2450	86231											
TEX14	56155	broad.mit.edu	37	chr17	56663224	56663224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcacagtcattgttgcccGtcttgtcaaacttgccattt	7	11	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:56663224G>A	uc010dcz.1	-	18	3144	c.3026C>T	c.(3025-3027)ACG>ATG	p.T1009M	TEX14_uc002iwr.1_Missense_Mutation_p.T1003M|TEX14_uc002iws.1_Missense_Mutation_p.T1003M|TEX14_uc010dda.1_Missense_Mutation_p.T783M	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1009						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTGTTGCCCGTCTTGTCAAA	0.502													A	56663224	G	A	56663224	3	1	158	1	0	0	0	0	1	0	0	0	15775	1145	40	1	1531	1	TEX14	17	56663224	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	228063	56663224	24531986	2451	86232											
TEX14	56155	broad.mit.edu	37	chr17	56699126	56699126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcatgtgtgaggcacAgcgctgcatgaactccacta	12	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:56699126A>G	uc010dcz.1	-	5	557	c.439T>C	c.(439-441)TGT>CGT	p.C147R	TEX14_uc002iwr.1_Missense_Mutation_p.C147R|TEX14_uc002iws.1_Missense_Mutation_p.C147R|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	147						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGAGGCACAGCGCTGCATG	0.552													G	56699126	A	G	56699126	3	3	158	1	0	0	0	0	1	0	0	0	15775	188	7	3	4152	3	TEX14	17	56699126	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	35902	56699126	24496084	2452	86233											
C17orf71	55181	broad.mit.edu	37	chr17	57292310	57292310	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccctaaggaaaatgtgCagttaatgagctacaaggtg	10	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:57292310C>T	uc002ixi.2	+	4	2965	c.2923C>T	c.(2923-2925)CAG>TAG	p.Q975*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	975					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GGAAAATGTGCAGTTAATGAG	0.433													T	57292310	C	T	57292310	4	4	158	1	0	0	0	0	0	1	0	0	1878	711	25	2	2937	2	C17orf71	17	57292310	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	593184	57292310	23902900	2453	86234											
BCAS3	54828	broad.mit.edu	37	chr17	58756883	58756883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactggtggagttgtggTtcgcccccaggctgtcacgt	14	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:58756883T>C	uc002iyv.3	+	2	174	c.65T>C	c.(64-66)GTT>GCT	p.V22A	BCAS3_uc010wow.1_Missense_Mutation_p.V18A|BCAS3_uc002iyu.3_Missense_Mutation_p.V22A|BCAS3_uc002iyw.3_Missense_Mutation_p.V18A	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	22						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGAGTTGTGGTTCGCCCCCAG	0.378													C	58756883	T	C	58756883	3	2	158	1	0	0	0	0	1	0	0	0	1352	1725	60	3	67	3	BCAS3	17	58756883	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1464573	58756883	22438327	2454	86235											
NACA2	342538	broad.mit.edu	37	chr17	59668209	59668209	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccgaagcagggctcttgtaGacgtccagttttgtgatgac	12	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:59668209G>A	uc002izj.2	-	1	359	c.333C>T	c.(331-333)GTC>GTT	p.V111V		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	nascent-polypeptide-associated complex alpha	111	NAC-A/B.				protein transport	cytoplasm|nucleus				ovary(1)	1	all_epithelial(1;3.12e-14)					GGCTCTTGTAGACGTCCAGTT	0.443													A	59668209	G	A	59668209	2	1	158	1	0	0	0	0	0	0	0	1	10134	929	33	4		4	NACA2	17	59668209	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	911326	59668209	21527001	2455	86236											
INTS2	57508	broad.mit.edu	37	chr17	59949820	59949820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatccatcagtggggggcAtctaaacaaggaaagcagaa	11	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:59949820A>G	uc002izn.2	-	20	2684	c.2608T>C	c.(2608-2610)TGC>CGC	p.C870R	INTS2_uc002izm.2_Missense_Mutation_p.C862R	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	870					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						AGTGGGGGGCATCTAAACAAG	0.343													G	59949820	A	G	59949820	3	3	158	1	0	0	0	0	1	0	0	0	7778	231	8	3	1030	3	INTS2	17	59949820	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	281611	59949820	21245390	2456	86237											
MED13	9969	broad.mit.edu	37	chr17	60060188	60060188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggaagggacagttgcaGgttcaacagaattaaggggt	16	4	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:60060188G>T	uc002izo.2	-	16	3253	c.3176C>A	c.(3175-3177)CCT>CAT	p.P1059H		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1059					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			large_intestine(1)|ovary(1)	2						GACAGTTGCAGGTTCAACAGA	0.403													T	60060188	G	T	60060188	3	4	158	1	0	0	0	0	1	0	0	0	9430	1000	35	5	3408	5	MED13	17	60060188	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	110368	60060188	21135022	2457	86238											
MED13	9969	broad.mit.edu	37	chr17	60087992	60087992	+	Frame_Shift_Del	DEL	A	A	-													cacttggaagttgaggtggtAaaaactctacatcttttttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:60087992delA	uc002izo.2	-	9	1963	c.1886delT	c.(1885-1887)TTAfs	p.L629fs	MED13_uc002izp.2_Frame_Shift_Del_p.L245fs	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	629					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			large_intestine(1)|ovary(1)	2						TTGAGGTGGTAAAAACTCTAC	0.353													-	60087992	A	-	60087992	7	5	158	1	0	1	0	1	0	0	0	0	9430	372	13	0	4726	0	MED13	17	60087992	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	27804	60087992	21107218	2458	86239											
MRC2	9902	broad.mit.edu	37	chr17	60757801	60757801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggacgtgcgggagcccgaCgacagccctcaaggtgagca	15	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:60757801C>T	uc002jad.2	+	16	2862	c.2460C>T	c.(2458-2460)GAC>GAT	p.D820D	MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	820	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGGAGCCCGACGACAGCCCTC	0.627													T	60757801	C	T	60757801	2	4	158	1	0	0	0	0	0	0	0	1	9758	535	19	1		1	MRC2	17	60757801	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	669809	60757801	20437409	2459	86240											
TANC2	26115	broad.mit.edu	37	chr17	61499114	61499114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattattacagcccccatgGgatgctggctaacgggtctc	11	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61499114G>A	uc002jal.3	+	25	5794	c.5771G>A	c.(5770-5772)GGG>GAG	p.G1924E	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.G1035E	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1924							binding			ovary(2)	2						AGCCCCCATGGGATGCTGGCT	0.527													A	61499114	G	A	61499114	3	1	158	1	0	0	0	0	1	0	0	0	15542	1232	43	4	5869	4	TANC2	17	61499114	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	741313	61499114	19696096	2460	86241											
KCNH6	81033	broad.mit.edu	37	chr17	61622452	61622452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaggctggagtcccgcGtgtcctcagacctcagccgc	13	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61622452G>A	uc002jay.2	+	13	2598	c.2518G>A	c.(2518-2520)GTG>ATG	p.V840M	KCNH6_uc010wpl.1_Missense_Mutation_p.V681M|KCNH6_uc010wpm.1_Missense_Mutation_p.V804M|KCNH6_uc002jaz.1_Missense_Mutation_p.V751M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	840	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GGAGTCCCGCGTGTCCTCAGA	0.612													A	61622452	G	A	61622452	3	1	158	1	0	0	0	0	1	0	0	0	8036	1145	40	1	2568	1	KCNH6	17	61622452	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	123338	61622452	19572758	2461	86242											
MAP3K3	4215	broad.mit.edu	37	chr17	61767711	61767711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgctatgacgtggacaCgggacgtgaacttgcttcca	12	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61767711C>T	uc002jbg.2	+	12	1470	c.1151C>T	c.(1150-1152)ACG>ATG	p.T384M	MAP3K3_uc002jbe.2_Missense_Mutation_p.T415M|MAP3K3_uc002jbf.2_Missense_Mutation_p.T415M|MAP3K3_uc002jbh.2_Missense_Mutation_p.T411M|MAP3K3_uc010wpo.1_Missense_Mutation_p.T299M|MAP3K3_uc010wpp.1_Missense_Mutation_p.T380M	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	384	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			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						GACGTGGACACGGGACGTGAA	0.562													T	61767711	C	T	61767711	3	4	158	1	0	0	0	0	1	0	0	0	9251	536	19	1	1294	1	MAP3K3	17	61767711	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	145259	61767711	19427499	2462	86243											
FTSJ3	117246	broad.mit.edu	37	chr17	61899142	61899142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttttcctccagtggtaCcagcagtggattctcctcct	8	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61899142C>T	uc002jbz.2	-	14	1615	c.1537G>A	c.(1537-1539)GTA>ATA	p.V513I	FTSJ3_uc002jca.2_Missense_Mutation_p.V513I	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	513					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TCCAGTGGTACCAGCAGTGGA	0.532													T	61899142	C	T	61899142	3	4	158	1	0	0	0	0	1	0	0	0	6089	507	18	4	1034	4	FTSJ3	17	61899142	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	131431	61899142	19296068	2463	86244											
TEX2	55852	broad.mit.edu	37	chr17	62290153	62290153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattataaagaagcccaaCgtcttcactggcaattccgg	7	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:62290153C>T	uc002jec.2	-	2	1598	c.1425G>A	c.(1423-1425)ACG>ACA	p.T475T	TEX2_uc002jed.2_Silent_p.T475T|TEX2_uc002jee.2_Silent_p.T475T	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	475	Helical; (Potential).				signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGAAGCCCAACGTCTTCACTG	0.542													T	62290153	C	T	62290153	2	4	158	1	0	0	0	0	0	0	0	1	15778	523	19	1		1	TEX2	17	62290153	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	391011	62290153	18905057	2464	86245											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856352	62856353	+	Frame_Shift_Ins	INS	-	-	T													gagttttgtgaaagcggtatINSttttttctggaatgtacgat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:62856351_62856352A>AT	uc002jey.2	-	10	4528_4529	c.3912_3913T>AT	c.(3910-3915)aaatacfs	p.K1304fs	LRRC37A3_uc010wqg.1_Frame_Shift_Ins_p.K422fs|LRRC37A3_uc002jex.1_Frame_Shift_Ins_p.K281fs|LRRC37A3_uc010wqf.1_Frame_Shift_Ins_p.K342fs|LRRC37A3_uc010dek.1_Frame_Shift_Ins_p.K310fs|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1304						integral to membrane		p.K1304fs*11(2)		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						TGAAAGCGGTATTTTTTTCTGG	0.406													T	62856353	-	T	62856352	7	5	158	1	0	1	1	0	0	0	0	0	8993	1490	52	0	1008	0	LRRC37A3	17	62856352	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	566199	62856352	18338858	2465	86246											
AXIN2	8313	broad.mit.edu	37	chr17	63554128	63554128	+	Frame_Shift_Del	DEL	C	C	-													tcatgtaagctgtgttttctCccccactcctcacatattcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:63554127_63554127TC>T	uc002jfi.3	-	1	901	c.612_612GA>A	c.(610-612)ggafs	p.G204fs	AXIN2_uc010den.1_Frame_Shift_Del_p.G204fs|AXIN2_uc002jfh.3_Frame_Shift_Del_p.G204fs|AXIN2_uc002jfj.1_Frame_Shift_Del_p.G204fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	204					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTGTGTTTTCTCCCCCACTCC	0.502									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				-	63554128	C	-	63554128	7	5	158	1	0	1	0	1	0	0	0	0	1237	855	30	0	1960	0	AXIN2	17	63554128	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	697776	63554128	17641082	2466	86247											
AMZ2	51321	broad.mit.edu	37	chr17	66246996	66246996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggctcacgggctactgTaaagcatatttctatggctt	9	8	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:66246996T>C	uc002jgs.1	+	4	462	c.345T>C	c.(343-345)TGT>TGC	p.C115C	AMZ2_uc002jgr.1_Silent_p.C115C|AMZ2_uc002jgt.1_Silent_p.C115C|AMZ2_uc002jgu.1_Silent_p.C115C|AMZ2_uc002jgv.1_Silent_p.C115C|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Silent_p.C115C	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1	115							metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGGGCTACTGTAAAGCATATT	0.363													C	66246996	T	C	66246996	2	2	158	1	0	0	0	0	0	0	0	1	597	1644	57	3		3	AMZ2	17	66246996	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2692868	66246996	14948214	2467	86248											
ABCA8	10351	broad.mit.edu	37	chr17	66880477	66880477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtgttcttacaattaGgaataccagaaatggctgta	9	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:66880477G>A	uc002jhp.2	-	26	3669	c.3490C>T	c.(3490-3492)CTA>TTA	p.L1164L	ABCA8_uc002jhq.2_Silent_p.L1204L|ABCA8_uc010wqq.1_Silent_p.L1204L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1164	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CTTACAATTAGGAATACCAGA	0.303													A	66880477	G	A	66880477	2	1	158	1	0	0	0	0	0	0	0	1	38	991	35	4		4	ABCA8	17	66880477	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	633481	66880477	14314733	2468	86249											
DNAI2	64446	broad.mit.edu	37	chr17	72308264	72308264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgatgaggagctggccgtAgacctggaggcgctggtcag	17	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72308264A>G	uc002jkf.2	+	12	1716	c.1617A>G	c.(1615-1617)GTA>GTG	p.V539V	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	539					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AGCTGGCCGTAGACCTGGAGG	0.607									Kartagener_syndrome				G	72308264	A	G	72308264	2	3	158	1	0	0	0	0	0	0	0	1	4610	407	15	3		3	DNAI2	17	72308264	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5427787	72308264	8886946	2469	86250											
NAT9	26151	broad.mit.edu	37	chr17	72769713	72769713	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgggggggcactcctcActgtctgcatcttcctgcca	12	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72769713A>G	uc002jlq.2	-	3	264	c.190_splice	c.e3+1	p.K64_splice	NAT9_uc002jlr.2_Splice_Site_p.K63_splice|TMEM104_uc010wrf.1_5'Flank|TMEM104_uc010wrg.1_5'Flank|TMEM104_uc002jls.3_5'Flank|TMEM104_uc010dfx.2_5'Flank	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9							protein complex	N-acetyltransferase activity				0						GGCACTCCTCACTGTCTGCAT	0.612													G	72769713	A	G	72769713	5	3	158	1	0	0	0	0	0	0	1	0	10182	173	6	3	451	3	NAT9	17	72769713	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	461449	72769713	8425497	2470	86251											
TMEM104	54868	broad.mit.edu	37	chr17	72832269	72832269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtgttcctggactacGtgctgatcctggccttctac	12	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72832269G>A	uc002jls.3	+	10	1096	c.934G>A	c.(934-936)GTG>ATG	p.V312M	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V312M	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	312	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					CCTGGACTACGTGCTGATCCT	0.602													A	72832269	G	A	72832269	3	1	158	1	0	0	0	0	1	0	0	0	16015	1145	40	1	968	1	TMEM104	17	72832269	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	62556	72832269	8362941	2471	86252											
FADS6	283985	broad.mit.edu	37	chr17	72888695	72888695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccagcgtttggactcGgtgagggccccatgagtggc	15	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72888695G>A	uc002jmd.1	-	2	324	c.312C>T	c.(310-312)ACC>ACT	p.T104T		NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	110					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)					GTTTGGACTCGGTGAGGGCCC	0.592													A	72888695	G	A	72888695	2	1	158	1	0	0	0	0	0	0	0	1	5368	1103	39	1		1	FADS6	17	72888695	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	56426	72888695	8306515	2472	86253											
C17orf28	283987	broad.mit.edu	37	chr17	72956180	72956180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggggctggcactgcTggcactgtcgtggtccaaag	15	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72956180T>C	uc002jmj.3	-	7	1041	c.892A>G	c.(892-894)AGC>GGC	p.S298G	C17orf28_uc010wrs.1_Missense_Mutation_p.S97G|C17orf28_uc002jmk.2_Missense_Mutation_p.S297G	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	298						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGGCACTGCTGGCACTGTCG	0.632													C	72956180	T	C	72956180	3	2	158	1	0	0	0	0	1	0	0	0	1853	1580	55	3	1526	3	C17orf28	17	72956180	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	67485	72956180	8239030	2473	86254											
SLC16A5	9121	broad.mit.edu	37	chr17	73089898	73089898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagacctcttggttccCctccatcctcacggctgtgc	9	17	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73089898C>A	uc002jmr.2	+	3	539	c.167C>A	c.(166-168)CCC>CAC	p.P56H	SLC16A5_uc002jms.1_Missense_Mutation_p.P56H|SLC16A5_uc002jmt.2_Missense_Mutation_p.P56H|SLC16A5_uc002jmu.2_Missense_Mutation_p.P56H|SLC16A5_uc010wrt.1_Missense_Mutation_p.P96H	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	56	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCTTGGTTCCCCTCCATCCTC	0.617													A	73089898	C	A	73089898	3	1	158	1	0	0	0	0	1	0	0	0	14411	623	22	5	169	5	SLC16A5	17	73089898	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	133718	73089898	8105312	2474	86255											
KIAA0195	9772	broad.mit.edu	37	chr17	73484878	73484879	+	Frame_Shift_Ins	INS	-	-	CC													tggagccgggagacctcttcINSccccccttctcccctccacc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73484877_73484878T>TCC	uc010wsa.2	+	5	872_873	c.680_681T>TCC	c.(679-681)ttcfs	p.F227fs	KIAA0195_uc002jnz.4_Frame_Shift_Ins_p.F217fs|KIAA0195_uc010wsb.2_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	217					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)			GGAGACCTCTTCCCCCCCTTCT	0.644													CC	73484879	-	CC	73484878	7	5	158	1	0	1	1	0	0	0	0	0	8160	854	30	0	673	0	KIAA0195	17	73484878	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	394980	73484878	7710332	2475	86256											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					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)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	158	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	6185	73491063	7704147	2476	86257											
GALK1	2584	broad.mit.edu	37	chr17	73754633	73754633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgaatctcccccaccaCgtgccgggcccgccggaagc	12	20	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73754633C>T	uc010wsi.1	-	6	904	c.841G>A	c.(841-843)GTG>ATG	p.V281M	GALK1_uc002jpk.2_Missense_Mutation_p.V281M	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	281					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	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)			TCCCCCACCACGTGCCGGGCC	0.697													T	73754633	C	T	73754633	3	4	158	1	0	0	0	0	1	0	0	0	6203	536	19	1	349	1	GALK1	17	73754633	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	263570	73754633	7440577	2477	86258											
ACOX1	51	broad.mit.edu	37	chr17	73952007	73952007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgggcaagaactattGcatgatttgaagtctttcca	10	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73952007G>A	uc002jqf.2	-	5	850	c.560C>T	c.(559-561)GCA>GTA	p.A187V	ACOX1_uc010wsq.1_Missense_Mutation_p.A149V|ACOX1_uc002jqe.2_Missense_Mutation_p.A187V|ACOX1_uc010wsr.1_Missense_Mutation_p.A119V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	187					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			ovary(1)	1						AAGAACTATTGCATGATTTGA	0.403													A	73952007	G	A	73952007	3	1	158	1	0	0	0	0	1	0	0	0	158	1319	46	2	1462	2	ACOX1	17	73952007	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	197374	73952007	7243203	2478	86259											
EVPL	2125	broad.mit.edu	37	chr17	74005049	74005049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctccacgccggcccGcagctgctgcacctcaagct	9	20	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:74005049G>A	uc002jqi.2	-	22	4465	c.4237C>T	c.(4237-4239)CGG>TGG	p.R1413W	EVPL_uc010wss.1_Missense_Mutation_p.R1435W|EVPL_uc010wst.1_Missense_Mutation_p.R883W	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1413	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						ACGCCGGCCCGCAGCTGCTGC	0.692													A	74005049	G	A	74005049	3	1	158	1	0	0	0	0	1	0	0	0	5292	1086	38	1	1868	1	EVPL	17	74005049	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	53042	74005049	7190161	2479	86260											
EVPL	2125	broad.mit.edu	37	chr17	74005310	74005310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctctgcttctttctccaGcaccgggtccttctcgtggc	9	17	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:74005310G>A	uc002jqi.2	-	22	4204	c.3976C>T	c.(3976-3978)CTG>TTG	p.L1326L	EVPL_uc010wss.1_Silent_p.L1348L|EVPL_uc010wst.1_Silent_p.L796L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1326	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCTTTCTCCAGCACCGGGTCC	0.701													A	74005310	G	A	74005310	2	1	158	1	0	0	0	0	0	0	0	1	5292	962	34	2		2	EVPL	17	74005310	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	261	74005310	7189900	2480	86261											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625401	74625401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaccgtcctggaggccGtcagcttcctggtctggccc	12	16	2	1	rs138569950		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:74625401G>A	uc002jsh.2	-	2	698	c.524C>T	c.(523-525)ACG>ATG	p.T175M	ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.T43M|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	175	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						CCTGGAGGCCGTCAGCTTCCT	0.582													A	74625401	G	A	74625401	3	1	158	1	0	0	0	0	1	0	0	0	15222	1145	40	1	1310	1	ST6GALNAC1	17	74625401	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	620091	74625401	6569809	2481	86262											
SEC14L1	6397	broad.mit.edu	37	chr17	75189626	75189627	+	Frame_Shift_Ins	INS	-	-	A													acaatataccagcaacattaINSaaaaagtgagtgtatcttgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:75189625_75189626T>TA	uc010dhc.3	+	5	788_789	c.468_469T>TA	c.(466-471)attaaafs	p.I156fs	SEC14L1_uc021udv.1_Frame_Shift_Ins_p.I156fs|SEC14L1_uc021udw.1_Frame_Shift_Ins_p.I156fs|SEC14L1_uc021udx.1_Frame_Shift_Ins_p.I156fs|SEC14L1_uc002jto.3_Frame_Shift_Ins_p.I156fs|SEC14L1_uc010wth.2_Frame_Shift_Ins_p.I156fs|SEC14L1_uc002jtm.3_Frame_Shift_Ins_p.I156fs|SEC14L1_uc010wti.2_Frame_Shift_Ins_p.I122fs	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	156	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding	p.K157N(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCAGCAACATTAAAAAAGTGAG	0.396													A	75189627	-	A	75189626	7	5	158	1	0	1	1	0	0	0	0	0	13981	363	13	0	483	0	SEC14L1	17	75189626	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	564225	75189626	6005584	2482	86263											
TMC6	11322	broad.mit.edu	37	chr17	76122898	76122898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacatcgaggatgaaggCcagtggctgggccatgtctc	16	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:76122898C>T	uc002juj.1	-	1	142	c.16G>A	c.(16-18)GCC>ACC	p.A6T	TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Missense_Mutation_p.A6T|TMC6_uc010dhg.1_Missense_Mutation_p.A6T|TMC6_uc002jul.1_Missense_Mutation_p.A6T|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Missense_Mutation_p.A6T|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Missense_Mutation_p.A6T	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	6	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGATGAAGGCCAGTGGCTGG	0.652									Epidermodysplasia_Verruciformis_Familial_Clustering_of				T	76122898	C	T	76122898	3	4	158	1	0	0	0	0	1	0	0	0	15986	739	26	2	2477	2	TMC6	17	76122898	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	933272	76122898	5072312	2483	86264											
PGS1	9489	broad.mit.edu	37	chr17	76388607	76388607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccccagctgttccccaggTcacctccccaccttgctgcc	7	21	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:76388607T>C	uc002jvm.2	+	2	206	c.194T>C	c.(193-195)GTC>GCC	p.V65A	PGS1_uc010wtt.1_RNA	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	65					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GTTCCCCAGGTCACCTCCCCA	0.522													C	76388607	T	C	76388607	3	2	158	1	0	0	0	0	1	0	0	0	11808	1667	58	3	200	3	PGS1	17	76388607	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	265709	76388607	4806603	2484	86265											
DNAH17	8632	broad.mit.edu	37	chr17	76420019	76420019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcgccacggctgccaGgatccacttcgctgccttct	11	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:76420019G>A	uc010dhp.1	-	26	4579	c.4357C>T	c.(4357-4359)CTG>TTG	p.L1453L	PGS1_uc002jvm.2_Intron|PGS1_uc010wtt.1_Intron|PGS1_uc010dho.2_Intron|PGS1_uc002jvn.2_Intron|PGS1_uc002jvo.2_Intron|DNAH17_uc002jvq.2_Silent_p.L738L|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			acggctgccagGATCCACTTC	0.254													A	76420019	G	A	76420019	2	1	158	1	0	0	0	0	0	0	0	1	4601	991	35	4		4	DNAH17	17	76420019	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	31412	76420019	4775191	2485	86266											
CBX4	8535	broad.mit.edu	37	chr17	77808735	77808735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacagcctctttgggggCcggcatcattccgttggggg	15	12	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:77808735C>T	uc002jxe.2	-	5	869	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	236	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTTTGGGGGCCGGCATCATT	0.617											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77808735	C	T	77808735	3	4	158	1	0	0	0	0	1	0	0	0	2720	739	26	2	980	2	CBX4	17	77808735	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1388716	77808735	3386475	2486	86267											
C17orf70	80233	broad.mit.edu	37	chr17	79514605	79514605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatgggtctggggccCgtgccgcttgacagcagtgc	17	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79514605C>T	uc002kaq.2	-	5	1558	c.1503G>A	c.(1501-1503)ACG>ACA	p.T501T	C17orf70_uc002kao.1_Silent_p.T150T|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.T350T	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	501					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCTGGGGCCCGTGCCGCTTG	0.597													T	79514605	C	T	79514605	2	4	158	1	0	0	0	0	0	0	0	1	1877	639	23	1		1	C17orf70	17	79514605	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1705870	79514605	1680605	2487	86268											
ASPSCR1	79058	broad.mit.edu	37	chr17	79954545	79954545	+	Frame_Shift_Del	DEL	G	G	-													tcgggtgggggacagagactGgggggccctcctgggcccac					rs8074498	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79954544_79954544TG>T	uc002kcy.3	+	6	852	c.755_755TG>T	c.(754-756)ctgfs	p.L252fs	ASPSCR1_uc002kcx.3_Frame_Shift_Del_p.L252fs|ASPSCR1_uc021ufj.1_Frame_Shift_Del_p.L175fs|ASPSCR1_uc002kda.3_Frame_Shift_Del_p.L175fs|ASPSCR1_uc002kdb.1_Frame_Shift_Del_p.L175fs	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	252			L -> Q (in dbSNP:rs8074498).				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)			GGACAGAGACTGGGGGGCCCT	0.637			T	TFE3	alveolar soft part sarcoma								-	79954545	G	-	79954545	7	5	158	1	0	1	0	1	0	0	0	0	1059	1335	47	0	782	0	ASPSCR1	17	79954545	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	439940	79954545	1240665	2488	86269											
ASPSCR1	79058	broad.mit.edu	37	chr17	79954570	79954570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcctgggcccacgaggCctctgacatcatcttcagct	9	17	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79954570C>T	uc002kcx.2	+	7	878	c.781C>T	c.(781-783)CCT>TCT	p.P261S	ASPSCR1_uc002kcw.1_Missense_Mutation_p.P261S|ASPSCR1_uc002kcy.2_Missense_Mutation_p.P261S|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Missense_Mutation_p.P184S|ASPSCR1_uc002kdb.1_Missense_Mutation_p.P184S	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	261							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	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)			GCCCACGAGGCCTCTGACATC	0.612			T	TFE3	alveolar soft part sarcoma								T	79954570	C	T	79954570	3	4	158	1	0	0	0	0	1	0	0	0	1059	739	26	2	807	2	ASPSCR1	17	79954570	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	25	79954570	1240640	2489	86270											
LRRC45	201255	broad.mit.edu	37	chr17	79985901	79985901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggctgcagatgacagAggccgccctggctctgtcgg	15	13	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79985901A>C	uc002kde.2	+	9	1166	c.926A>C	c.(925-927)GAG>GCG	p.E309A		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	309	Potential.					centrosome				pancreas(1)	1	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)			CAGATGACAGAGGCCGCCCTG	0.642													C	79985901	A	C	79985901	3	2	158	1	0	0	0	0	1	0	0	0	9002	304	11	5	960	5	LRRC45	17	79985901	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	31331	79985901	1209309	2490	86271											
FASN	2194	broad.mit.edu	37	chr17	80037033	80037033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcctagccctcccgcaCgctcacgcgtggctcagcca	11	19	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80037033C>T	uc002kdu.2	-	43	7639	c.7522G>A	c.(7522-7524)GTG>ATG	p.V2508M	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2508	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(1)	1	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)	CCCTCCCGCACGCTCACGCGT	0.597													T	80037033	C	T	80037033	3	4	158	1	0	0	0	0	1	0	0	0	5683	536	19	1	17	1	FASN	17	80037033	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	51132	80037033	1158177	2491	86272											
FASN	2194	broad.mit.edu	37	chr17	80045016	80045016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaaacttctccaggaTgggcacctgctgctcctgct	10	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80045016T>C	uc002kdu.2	-	21	3454	c.3337A>G	c.(3337-3339)ATC>GTC	p.I1113V	FASN_uc002kdw.1_Missense_Mutation_p.I329V	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1113					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(1)	1	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)	TTCTCCAGGATGGGCACCTGC	0.672													C	80045016	T	C	80045016	3	2	158	1	0	0	0	0	1	0	0	0	5683	1464	51	3	4290	3	FASN	17	80045016	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	7983	80045016	1150194	2492	86273											
FASN	2194	broad.mit.edu	37	chr17	80051506	80051506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaaggagagccggttgGccatcatcgctcgctggcag	15	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80051506G>A	uc002kdu.2	-	4	539	c.422C>T	c.(421-423)GCC>GTC	p.A141V		NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	141	Beta-ketoacyl synthase (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(1)	1	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)	GAGCCGGTTGGCCATCATCGC	0.652													A	80051506	G	A	80051506	3	1	158	1	0	0	0	0	1	0	0	0	5683	1203	42	2	7273	2	FASN	17	80051506	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6490	80051506	1143704	2493	86274											
UTS2R	2837	broad.mit.edu	37	chr17	80332577	80332577	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgggctgccgcgtgcTcttcggcctggacttcctga	15	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80332577T>G	uc010wvl.1	+	1	377	c.377T>G	c.(376-378)CTC>CGC	p.L126R		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	126	Helical; Name=3; (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGCCGCGTGCTCTTCGGCCTG	0.662													G	80332577	T	G	80332577	3	3	158	1	0	0	0	0	1	0	0	0	17103	1551	54	5	379	5	UTS2R	17	80332577	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	281071	80332577	862633	2494	86275											
HEXDC	284004	broad.mit.edu	37	chr17	80400119	80400119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctggctttctacccGgatgccgtggaggagtggct	15	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80400119G>A	uc002kew.2	+	12	1371	c.1320G>A	c.(1318-1320)CCG>CCA	p.P440P	HEXDC_uc002kev.3_Missense_Mutation_p.R470Q|HEXDC_uc010diq.2_Missense_Mutation_p.G443R|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	440					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTTTCTACCCGGATGCCGTGG	0.672													A	80400119	G	A	80400119	2	1	158	1	0	0	0	0	0	0	0	1	7075	1116	39	1		1	HEXDC	17	80400119	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	67542	80400119	795091	2495	86276											
C17orf62	79415	broad.mit.edu	37	chr17	80402342	80402342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcggtggcccatgactgCactctgcgtgagggggtggg	18	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80402342C>T	uc002kez.2	-	5	472	c.424G>A	c.(424-426)GCA>ACA	p.A142T	C17orf62_uc002kex.2_5'UTR|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.A142T|C17orf62_uc010dir.2_Missense_Mutation_p.A142T|C17orf62_uc002kfb.3_Missense_Mutation_p.A142T|C17orf62_uc002kfc.3_Missense_Mutation_p.A128T|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	142						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCATGACTGCACTCTGCGTG	0.627													T	80402342	C	T	80402342	3	4	158	1	0	0	0	0	1	0	0	0	1870	710	25	2	147	2	C17orf62	17	80402342	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2223	80402342	792868	2496	86277											
TBCD	6904	broad.mit.edu	37	chr17	80882895	80882895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcgttggccttgggcGcccttccaggcttccttctg	11	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80882895G>A	uc002kfz.2	+	27	2471	c.2341G>A	c.(2341-2343)GCC>ACC	p.A781T	TBCD_uc002kfy.1_Missense_Mutation_p.A781T|TBCD_uc002kgb.1_Missense_Mutation_p.A106T|TBCD_uc002kgc.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	781					'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				0	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)			GGCCTTGGGCGCCCTTCCAGG	0.637													A	80882895	G	A	80882895	3	1	158	1	0	0	0	0	1	0	0	0	15630	1087	38	1	2447	1	TBCD	17	80882895	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	480553	80882895	312315	2497	86278											
TBCD	6904	broad.mit.edu	37	chr17	80885161	80885161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgctgggctgcatggaCgactacaccacggacagcag	14	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80885161C>T	uc002kfz.2	+	29	2701	c.2571C>T	c.(2569-2571)GAC>GAT	p.D857D	TBCD_uc002kfy.1_Silent_p.D857D|TBCD_uc002kgb.1_Silent_p.D182D|TBCD_uc002kgc.2_Silent_p.D2D|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	857					'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				0	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)			GCTGCATGGACGACTACACCA	0.567													T	80885161	C	T	80885161	2	4	158	1	0	0	0	0	0	0	0	1	15630	535	19	1		1	TBCD	17	80885161	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2266	80885161	310049	2498	86279											
SMCHD1	23347	broad.mit.edu	37	chr18	2688392	2688392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattaatgttttattttagTgatcattcaggatatgttcg	8	4	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:2688392T>C	uc002klm.3	+	6	828	c.639T>C	c.(637-639)AGT>AGC	p.S213S		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	213					chromosome organization		ATP binding				0						TTTATTTTAGTGATCATTCAG	0.358													C	2688392	T	C	2688392	2	2	158	1	0	0	0	0	0	0	0	1	14788	1710	59	3		3	SMCHD1	18	2688392	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08		2688392	75388856	2499	86280											
DLGAP1	9229	broad.mit.edu	37	chr18	3729292	3729292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcatgggcaggtccagCgcttccacggcctgcgactc	14	16	0	0	rs142690410		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:3729292C>T	uc002kmf.2	-	4	1501	c.1434G>A	c.(1432-1434)GCG>GCA	p.A478A	DLGAP1_uc010wyz.1_Silent_p.A478A|DLGAP1_uc002kme.1_Silent_p.A176A|DLGAP1_uc010dkn.2_Silent_p.A176A|DLGAP1_uc010wyw.1_Silent_p.A184A|DLGAP1_uc010wyx.1_Silent_p.A190A|DLGAP1_uc010wyy.1_Silent_p.A190A|DLGAP1_uc002kmg.2_Silent_p.A176A|DLGAP1_uc002kmk.2_Silent_p.A478A	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	478					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GCAGGTCCAGCGCTTCCACGG	0.647													T	3729292	C	T	3729292	2	4	158	1	0	0	0	0	0	0	0	1	4559	755	27	1		1	DLGAP1	18	3729292	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1040900	3729292	74347956	2500	86281											
LAMA1	284217	broad.mit.edu	37	chr18	6947161	6947161	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggagaggaagcacccaCcttgccgtccacaagctcta	9	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:6947161C>T	uc002knm.2	-	61	8938	c.8844_splice	c.e61+1	p.K2948_splice	LAMA1_uc002knk.2_Splice_Site_p.K278_splice|LAMA1_uc002knl.2_Splice_Site_p.K401_splice|LAMA1_uc010wzj.1_Splice_Site_p.K2424_splice	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor						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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGCACCCACCTTGCCGTCC	0.512													T	6947161	C	T	6947161	5	4	158	1	0	0	0	0	0	0	1	0	8605	521	18	4	394	4	LAMA1	18	6947161	Splice_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3217869	6947161	71130087	2501	86282											
LAMA1	284217	broad.mit.edu	37	chr18	7016544	7016544	+	Frame_Shift_Del	DEL	T	T	-													atgggcacacctgtcacaccTtttccctgccacacctggga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:7016543_7016543CT>C	uc002knm.3	-	20	3030	c.2936_2936AG>G	c.(2935-2937)aggfs	p.R979fs	LAMA1_uc010wzj.2_Frame_Shift_Del_p.R455fs	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	979	Laminin EGF-like 10.				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)	CCTGTCACACCTTTTCCCTGC	0.567													-	7016544	T	-	7016544	7	5	158	1	0	1	0	1	0	0	0	0	8605	1608	56	0	6464	0	LAMA1	18	7016544	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	69383	7016544	71060704	2502	86283											
ANKRD12	23253	broad.mit.edu	37	chr18	9254421	9254421	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattcttaggaaagaacaaCgaaaagaaaatgaacctgaa	7	5	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:9254421C>T	uc002knv.2	+	9	1413	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	ANKRD12_uc002knw.2_Nonsense_Mutation_p.R363*|ANKRD12_uc002knx.2_Nonsense_Mutation_p.R363*|ANKRD12_uc010dkx.1_Nonsense_Mutation_p.R93*	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	386						nucleus				ovary(2)|central_nervous_system(1)	3						GAAAGAACAACGAAAAGAAAA	0.323													T	9254421	C	T	9254421	4	4	158	1	0	0	0	0	0	1	0	0	640	528	19	1	1186	1	ANKRD12	18	9254421	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2237877	9254421	68822827	2503	86284											
PPP4R1	9989	broad.mit.edu	37	chr18	9562041	9562041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgctcaagtctgaatcGctgtgaatatagtgaagagt	11	5	2	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:9562041G>A	uc002koe.1	-	13	1897	c.1779C>T	c.(1777-1779)AGC>AGT	p.S593S	PPP4R1_uc002kof.2_Silent_p.S10S|PPP4R1_uc010wzo.1_Silent_p.S439S|PPP4R1_uc002kod.1_Silent_p.S576S|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	593	HEAT 11.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						AGTCTGAATCGCTGTGAATAT	0.368													A	9562041	G	A	9562041	2	1	158	1	0	0	0	0	0	0	0	1	12403	1078	38	1		1	PPP4R1	18	9562041	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	307620	9562041	68515207	2504	86285											
APCDD1	147495	broad.mit.edu	37	chr18	10487648	10487648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgctcaacgtcttcaaCgggaatgagtgcggggccga	13	11	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:10487648C>T	uc002kom.3	+	5	1512	c.1158C>T	c.(1156-1158)AAC>AAT	p.N386N		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	386	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		ACGTCTTCAACGGGAATGAGT	0.587													T	10487648	C	T	10487648	2	4	158	1	0	0	0	0	0	0	0	1	765	535	19	1		1	APCDD1	18	10487648	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	925607	10487648	67589600	2505	86286											
FAM38B	63895	broad.mit.edu	37	chr18	10696429	10696429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacaatgatgatgaagtcCacagtgtcagccaggaacat	10	8	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:10696429C>A	uc002kor.3	-	4	608	c.468G>T	c.(466-468)GTG>GTT	p.V156V	FAM38B_uc002koq.2_Silent_p.V54V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2199	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1						TGATGAAGTCCACAGTGTCAG	0.537													A	10696429	C	A	10696429	2	1	158	1	0	0	0	0	0	0	0	1	5555	581	21	5		5	FAM38B	18	10696429	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	208781	10696429	67380819	2506	86287											
SPIRE1	56907	broad.mit.edu	37	chr18	12479767	12479767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccgctgtgcaggcacCtgctgtgaggtacttaaccc	10	13	1	1	rs145288118		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:12479767C>A	uc002kre.2	-	10	1382	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.Q311H|SPIRE1_uc010wzx.1_Missense_Mutation_p.Q234H|SPIRE1_uc010wzy.1_Missense_Mutation_p.Q431H	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	445						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						GTGCAGGCACCTGCTGTGAGG	0.517													A	12479767	C	A	12479767	3	1	158	1	0	0	0	0	1	0	0	0	15070	680	24	5	967	5	SPIRE1	18	12479767	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1783338	12479767	65597481	2507	86288											
SPIRE1	56907	broad.mit.edu	37	chr18	12493099	12493099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtctaatctcctctggTgatacaggccgcagctttct	8	13	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:12493099T>C	uc002kre.2	-	8	1208	c.1161A>G	c.(1159-1161)TCA>TCG	p.S387S	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.S267S|SPIRE1_uc010wzx.1_Silent_p.S190S|SPIRE1_uc010wzy.1_Silent_p.S387S	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	387						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						TCTCCTCTGGTGATACAGGCC	0.478													C	12493099	T	C	12493099	2	2	158	1	0	0	0	0	0	0	0	1	15070	1683	59	3		3	SPIRE1	18	12493099	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	13332	12493099	65584149	2508	86289											
RNMT	8731	broad.mit.edu	37	chr18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-													acaatatgaaactagtctacAaaaaaacatttctggaattc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:13746253delA	uc002ksk.1	+	8	1241	c.1174delA	c.(1174-1176)AAAfs	p.K392fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.K392fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.K392fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.K392fs|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	392					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						ACTAGTCTACAAAAAAACATT	0.308													-	13746253	A	-	13746253	7	5	158	1	0	1	0	1	0	0	0	0	13506	131	5	0	1200	0	RNMT	18	13746253	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1253154	13746253	64330995	2509	86290											
ABHD3	171586	broad.mit.edu	37	chr18	19231607	19231607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaaattgcttgaagacaCgatccatgtaagtggactgt	10	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:19231607C>T	uc002ktl.2	-	9	1315	c.1175G>A	c.(1174-1176)CGT>CAT	p.R392H	ABHD3_uc002ktm.2_Missense_Mutation_p.R339H|ABHD3_uc002ktk.2_Missense_Mutation_p.R197H	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	392						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						CTTGAAGACACGATCCATGTA	0.428													T	19231607	C	T	19231607	3	4	158	1	0	0	0	0	1	0	0	0	83	536	19	1	58	1	ABHD3	18	19231607	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5485354	19231607	58845641	2510	86291											
LAMA3	3909	broad.mit.edu	37	chr18	21364090	21364090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgatgtgatacctgccgCtctggtttctactcattccc	7	15	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:21364090C>T	uc002kuq.2	+	12	1658	c.1572C>T	c.(1570-1572)CGC>CGT	p.R524R	LAMA3_uc010dlv.1_Silent_p.R524R|LAMA3_uc002kur.2_Silent_p.R524R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	524	Domain V.|Laminin EGF-like 4.				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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	ATACCTGCCGCTCTGGTTTCT	0.498													T	21364090	C	T	21364090	2	4	158	1	0	0	0	0	0	0	0	1	8607	784	28	2		2	LAMA3	18	21364090	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2132483	21364090	56713158	2511	86292											
LAMA3	3909	broad.mit.edu	37	chr18	21390463	21390463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatgatttcccccactgCcaaggtaggaaagtcagcag	10	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:21390463C>T	uc002kuq.2	+	13	1823	c.1737C>T	c.(1735-1737)TGC>TGT	p.C579C	LAMA3_uc002kur.2_Silent_p.C579C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	579	Domain V.|Laminin EGF-like 5.				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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	TCCCCCACTGCCAAGGTAGGA	0.562													T	21390463	C	T	21390463	2	4	158	1	0	0	0	0	0	0	0	1	8607	747	26	2		2	LAMA3	18	21390463	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26373	21390463	56686785	2512	86293											
CDH2	1000	broad.mit.edu	37	chr18	25565659	25565659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgaggtaacacttgaGgggcattgtcattaatatca	9	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:25565659G>T	uc002kwg.2	-	12	2267	c.1808C>A	c.(1807-1809)CCT>CAT	p.P603H	CDH2_uc010xbn.1_Missense_Mutation_p.P572H	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	603	Extracellular (Potential).|Cadherin 4.				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			ovary(3)|lung(1)	4						TAACACTTGAGGGGCATTGTC	0.398													T	25565659	G	T	25565659	3	4	158	1	0	0	0	0	1	0	0	0	3105	1000	35	5	932	5	CDH2	18	25565659	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4175196	25565659	52511589	2513	86294											
DSC2	1824	broad.mit.edu	37	chr18	28654858	28654858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtataatgcccagtgtccccGtacatgttctccctcctaga	7	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:28654858G>A	uc002kwl.3	-	12	2133	c.1679C>T	c.(1678-1680)ACG>ATG	p.T560M	DSC2_uc002kwk.3_Missense_Mutation_p.T560M	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	560	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAGTGTCCCCGTACATGTTCT	0.358													A	28654858	G	A	28654858	3	1	158	1	0	0	0	0	1	0	0	0	4766	1145	40	1	1086	1	DSC2	18	28654858	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3089199	28654858	49422390	2514	86295											
B4GALT6	9331	broad.mit.edu	37	chr18	29207063	29207063	+	Frame_Shift_Del	DEL	A	A	-													gtcagcccacttacaccaccAaaaaattctttatatggaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:29207063delA	uc002kwz.3	-	7	1095	c.798delT	c.(796-798)TTTfs	p.F266fs	B4GALT6_uc010dma.2_Frame_Shift_Del_p.F227fs|B4GALT6_uc010dmb.2_Frame_Shift_Del_p.F227fs|B4GALT6_uc002kwy.3_5'Flank	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	266	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TTACACCACCAAAAAATTCTT	0.358													-	29207063	A	-	29207063	7	5	158	1	0	1	0	1	0	0	0	0	1275	127	5	0	362	0	B4GALT6	18	29207063	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	552205	29207063	48870185	2515	86296											
MCART2	147407	broad.mit.edu	37	chr18	29340605	29340605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattggtggcctcttttcaTgagcttctgaatctatcatg	9	8	5	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:29340605T>C	uc002kxa.2	-	1	239	c.20A>G	c.(19-21)CAT>CGT	p.H7R		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	7					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			CCTCTTTTCATGAGCTTCTGA	0.388													C	29340605	T	C	29340605	3	2	158	1	0	0	0	0	1	0	0	0	9370	1464	51	3	877	3	MCART2	18	29340605	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	133542	29340605	48736643	2516	86297											
MEP1B	4225	broad.mit.edu	37	chr18	29790531	29790531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcagtgctggaaagTagaacgctgtaccctaaaag	11	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:29790531T>C	uc002kxj.3	+	10	1034	c.987T>C	c.(985-987)AGT>AGC	p.S329S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	329	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						TGCTGGAAAGTAGAACGCTGT	0.403													C	29790531	T	C	29790531	2	2	158	1	0	0	0	0	0	0	0	1	9476	1635	57	3		3	MEP1B	18	29790531	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	449926	29790531	48286717	2517	86298											
C18orf21	83608	broad.mit.edu	37	chr18	33554884	33554884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcacttttgaagaaacGtgtccatactgtttccagct	8	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:33554884G>A	uc002kzc.2	+	3	230	c.126G>A	c.(124-126)ACG>ACA	p.T42T	C18orf21_uc002kzd.2_Translation_Start_Site	NM_031446	NP_113634	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	42											0						TTGAAGAAACGTGTCCATACT	0.363													A	33554884	G	A	33554884	2	1	158	1	0	0	0	0	0	0	0	1	1897	1132	40	1		1	C18orf21	18	33554884	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3764353	33554884	44522364	2518	86299											
MOCOS	55034	broad.mit.edu	37	chr18	33779931	33779931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccagactgccagctgccGcatctcttctgctacccagc	7	18	2	1	rs3744902		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:33779931G>A	uc002kzq.3	+	4	608	c.585G>A	c.(583-585)CCG>CCA	p.P195P		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	195					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GCCAGCTGCCGCATCTCTTCT	0.557													A	33779931	G	A	33779931	2	1	158	1	0	0	0	0	0	0	0	1	9689	1074	38	1		1	MOCOS	18	33779931	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	225047	33779931	44297317	2519	86300											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				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)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	158	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	425585	34205516	43871732	2520	86301											
FHOD3	80206	broad.mit.edu	37	chr18	34327049	34327049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagttcctgaaagactgtGcagagcgaattataatttta	9	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:34327049G>A	uc002kzt.1	+	20	3704	c.3607G>A	c.(3607-3609)GCA>ACA	p.A1203T	FHOD3_uc002kzs.1_Missense_Mutation_p.A1220T|FHOD3_uc010dmz.1_Missense_Mutation_p.A935T|FHOD3_uc010dnb.1_Missense_Mutation_p.A199T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1203	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAAAGACTGTGCAGAGCGAAT	0.358													A	34327049	G	A	34327049	3	1	158	1	0	0	0	0	1	0	0	0	5883	1319	46	2	3740	2	FHOD3	18	34327049	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	121533	34327049	43750199	2521	86302											
CELF4	56853	broad.mit.edu	37	chr18	34833874	34833874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatggcggtctgcgcgCtggccgggttgtcgaagctc	17	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:34833874C>T	uc002lae.2	-	12	1757	c.1361G>A	c.(1360-1362)AGC>AAC	p.S454N	CELF4_uc010dnd.1_Missense_Mutation_p.S452N|CELF4_uc002lag.2_Missense_Mutation_p.S416N|CELF4_uc002laf.2_Missense_Mutation_p.S448N	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	454	RRM 3.				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			ovary(2)	2						GGTCTGCGCGCTGGCCGGGTT	0.517													T	34833874	C	T	34833874	3	4	158	1	0	0	0	0	1	0	0	0	3218	797	28	2	103	2	CELF4	18	34833874	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	506825	34833874	43243374	2522	86303											
SETBP1	26040	broad.mit.edu	37	chr18	42532291	42532291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgatcactattacccgGtgccatatatccagtatgac	6	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:42532291G>A	uc010dni.2	+	4	3282	c.2986G>A	c.(2986-2988)GTG>ATG	p.V996M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	996						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTATTACCCGGTGCCATATAT	0.443									Schinzel-Giedion_syndrome				A	42532291	G	A	42532291	3	1	158	1	0	0	0	0	1	0	0	0	14129	1261	44	4	3189	4	SETBP1	18	42532291	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7698417	42532291	35544957	2523	86304											
SETBP1	26040	broad.mit.edu	37	chr18	42643099	42643099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcgaagccatccagtgCgaagtgcggaagatgtgcaa	14	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:42643099C>T	uc010dni.2	+	6	4523	c.4227C>T	c.(4225-4227)TGC>TGT	p.C1409C		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1409						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCATCCAGTGCGAAGTGCGGA	0.542									Schinzel-Giedion_syndrome				T	42643099	C	T	42643099	2	4	158	1	0	0	0	0	0	0	0	1	14129	776	27	1		1	SETBP1	18	42643099	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	110808	42643099	35434149	2524	86305											
KIAA1632	57724	broad.mit.edu	37	chr18	43496007	43496007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagtaatttctgtatgcaGtcttcctgcatcagctgaaa	8	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:43496007G>A	uc002lbm.2	-	19	3649	c.3549C>T	c.(3547-3549)GAC>GAT	p.D1183D	KIAA1632_uc002lbo.1_Silent_p.D1183D|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.D58D	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1183					autophagy						0						TCTGTATGCAGTCTTCCTGCA	0.393													A	43496007	G	A	43496007	2	1	158	1	0	0	0	0	0	0	0	1	8249	1020	36	4		4	KIAA1632	18	43496007	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	852908	43496007	34581241	2525	86306											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260090	44260090	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatctcagagggcatgGcgtggaagccgggacgcggc	18	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:44260090G>C	uc002lcj.1	-	7	1614	c.1046C>G	c.(1045-1047)GCC>GGC	p.A349G	ST8SIA5_uc002lci.1_Missense_Mutation_p.A196G|ST8SIA5_uc010xcy.1_Missense_Mutation_p.A385G|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A318G	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	349	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGAGGGCATGGCGTGGAAGCC	0.617													C	44260090	G	C	44260090	3	2	158	1	0	0	0	0	1	0	0	0	15234	1203	42	5	88	5	ST8SIA5	18	44260090	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	764083	44260090	33817158	2526	86307											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260313	44260313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactgcggatggaagtagtAgacagcttgcggcgattcga	15	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:44260313A>G	uc002lcj.1	-	7	1391	c.823T>C	c.(823-825)TAC>CAC	p.Y275H	ST8SIA5_uc002lci.1_Missense_Mutation_p.Y122H|ST8SIA5_uc010xcy.1_Missense_Mutation_p.Y311H|ST8SIA5_uc010xcz.1_Missense_Mutation_p.Y244H	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	275	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TGGAAGTAGTAGACAGCTTGC	0.622													G	44260313	A	G	44260313	3	3	158	1	0	0	0	0	1	0	0	0	15234	420	15	3	311	3	ST8SIA5	18	44260313	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	223	44260313	33816935	2527	86308											
TCEB3B	51224	broad.mit.edu	37	chr18	44559729	44559729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcatctttgcctctctgCcgttggggttgtttccacgt	10	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:44559729C>T	uc002lcr.1	-	1	2260	c.1907G>A	c.(1906-1908)GGC>GAC	p.G636D	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	636	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGCCTCTCTGCCGTTGGGGTT	0.532													T	44559729	C	T	44559729	3	4	158	1	0	0	0	0	1	0	0	0	15679	739	26	2	358	2	TCEB3B	18	44559729	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	299416	44559729	33517519	2528	86309											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566744	45566744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatggagacaaggagggTctcctgtcggggatgttggc	18	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:45566744T>C	uc002lda.2	-	1	751	c.735A>G	c.(733-735)AGA>AGG	p.R245R	ZBTB7C_uc002ldb.2_Silent_p.R245R|ZBTB7C_uc010dnu.2_Silent_p.R254R|ZBTB7C_uc010dnv.2_Silent_p.R267R|ZBTB7C_uc010dnw.2_Silent_p.R245R|ZBTB7C_uc010dnx.1_Silent_p.R245R|ZBTB7C_uc010dny.1_Silent_p.R245R|ZBTB7C_uc010dnz.1_Silent_p.R267R|ZBTB7C_uc010dob.1_Silent_p.R245R|ZBTB7C_uc010doc.1_Silent_p.R254R|ZBTB7C_uc010dod.1_Silent_p.R267R|ZBTB7C_uc010doe.1_Silent_p.R245R|ZBTB7C_uc010dof.1_Silent_p.R245R|ZBTB7C_uc010dog.1_Silent_p.R245R|ZBTB7C_uc010doh.1_Silent_p.R254R|ZBTB7C_uc010doi.1_Silent_p.R245R|ZBTB7C_uc010doj.1_Silent_p.R254R|ZBTB7C_uc010dok.1_Silent_p.R294R|ZBTB7C_uc010dol.1_Silent_p.R254R|ZBTB7C_uc010doa.1_Silent_p.R267R|ZBTB7C_uc010don.1_Silent_p.R253R|ZBTB7C_uc010doo.1_Silent_p.R245R|ZBTB7C_uc010dop.1_Silent_p.R245R|ZBTB7C_uc010doq.1_Silent_p.R254R|ZBTB7C_uc010dor.1_Silent_p.R267R|ZBTB7C_uc010dos.1_Silent_p.R245R|ZBTB7C_uc010dot.1_Silent_p.R245R|ZBTB7C_uc010dou.1_Silent_p.R254R|ZBTB7C_uc010dom.1_Silent_p.R254R	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	245						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						ACAAGGAGGGTCTCCTGTCGG	0.617													C	45566744	T	C	45566744	2	2	158	1	0	0	0	0	0	0	0	1	17552	1664	58	3		3	ZBTB7C	18	45566744	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1007015	45566744	32510504	2529	86310											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567049	45567049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatcatcatcttcgtcgtCgtcatcgtcctccttgtcat	5	14	6	0	rs148618880		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:45567049C>T	uc002lda.2	-	1	446	c.430G>A	c.(430-432)GAC>AAC	p.D144N	ZBTB7C_uc002ldb.2_Missense_Mutation_p.D144N|ZBTB7C_uc010dnu.2_Missense_Mutation_p.D153N|ZBTB7C_uc010dnv.2_Missense_Mutation_p.D166N|ZBTB7C_uc010dnw.2_Missense_Mutation_p.D144N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D166N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D166N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D153N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D193N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D153N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D166N|ZBTB7C_uc010don.1_Missense_Mutation_p.D152N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D166N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D153N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	144	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcttcgtcgtcgtcatcgtcc	0.269													T	45567049	C	T	45567049	3	4	158	1	0	0	0	0	1	0	0	0	17552	884	31	1	1437	1	ZBTB7C	18	45567049	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	305	45567049	32510199	2530	86311											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-													gtcctccttgtcatcctcctCccccccgtcccccccaggct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:45567076delC	uc002lda.2	-	1	419	c.403delG	c.(403-405)GAGfs	p.E135fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcatcctcctcccccccgtcc	0.279													-	45567076	C	-	45567076	7	5	158	1	0	1	0	1	0	0	0	0	17552	864	30	0	1464	0	ZBTB7C	18	45567076	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	27	45567076	32510172	2531	86312											
ACAA2	10449	broad.mit.edu	37	chr18	47311636	47311636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgacccaaagcaatgGctcctccattcacattggtt	10	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:47311636G>A	uc002ldw.3	-	9	1437	c.1040C>T	c.(1039-1041)GCC>GTC	p.A347V	ACAA2_uc002ldx.3_Missense_Mutation_p.A344V	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	347					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						CAAAGCAATGGCTCCTCCATT	0.413													A	47311636	G	A	47311636	3	1	158	1	0	0	0	0	1	0	0	0	105	1203	42	2	161	2	ACAA2	18	47311636	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1744560	47311636	30765612	2532	86313											
MBD1	4152	broad.mit.edu	37	chr18	47800077	47800077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgttggagcctgggTatggtctggttgggctgtgc	17	8	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:47800077T>C	uc010dow.1	-	12	1740	c.1303A>G	c.(1303-1305)ACC>GCC	p.T435A	MBD1_uc002lef.2_Missense_Mutation_p.T186A|MBD1_uc002leg.2_Missense_Mutation_p.T385A|MBD1_uc010xdi.1_Missense_Mutation_p.T486A|MBD1_uc002leh.3_Missense_Mutation_p.T379A|MBD1_uc002len.2_Missense_Mutation_p.T435A|MBD1_uc002lei.3_Missense_Mutation_p.T435A|MBD1_uc002lej.3_Missense_Mutation_p.T379A|MBD1_uc002lek.3_Missense_Mutation_p.T386A|MBD1_uc002lel.3_Missense_Mutation_p.T412A|MBD1_uc002lem.3_Missense_Mutation_p.T435A|MBD1_uc010xdj.1_Missense_Mutation_p.T379A|MBD1_uc010xdk.1_Missense_Mutation_p.T460A|MBD1_uc010dox.1_Missense_Mutation_p.T412A|MBD1_uc002leo.2_Missense_Mutation_p.T435A	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	435					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGAGCCTGGGTATGGTCTGGT	0.607													C	47800077	T	C	47800077	3	2	158	1	0	0	0	0	1	0	0	0	9342	1638	57	3	728	3	MBD1	18	47800077	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	488441	47800077	30277171	2533	86314											
ATP8B1	5205	broad.mit.edu	37	chr18	55319825	55319825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagataagctccaagaGgtatgaagaagaggatcatc	11	6	1	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:55319825G>T	uc002lgw.2	-	24	3152	c.3152C>A	c.(3151-3153)CCT>CAT	p.P1051H	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1051	Helical; (Potential).				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(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				AGCTCCAAGAGGTATGAAGAA	0.443									Byler_disease				T	55319825	G	T	55319825	3	4	158	1	0	0	0	0	1	0	0	0	1194	1000	35	5	619	5	ATP8B1	18	55319825	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7519748	55319825	22757423	2534	86315											
ALPK2	115701	broad.mit.edu	37	chr18	56246569	56246569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagcagattgtcactgGcaaattcctctcttgcttgg	10	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:56246569G>A	uc002lhj.3	-	4	1653	c.1439C>T	c.(1438-1440)GCC>GTC	p.A480V		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	480							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ATTGTCACTGGCAAATTCCTC	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	56246569	G	A	56246569	3	1	158	1	0	0	0	0	1	0	0	0	545	1203	42	2	5113	2	ALPK2	18	56246569	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	926744	56246569	21830679	2535	86316											
ZNF532	55205	broad.mit.edu	37	chr18	56586759	56586759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtctccagcatcagccGccgtcctttcctctcccccc	6	21	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:56586759G>A	uc002lho.2	+	4	1787	c.1240G>A	c.(1240-1242)GCC>ACC	p.A414T	ZNF532_uc002lhp.2_Missense_Mutation_p.A412T|ZNF532_uc010xeg.1_Missense_Mutation_p.A412T|ZNF532_uc002lhr.2_Missense_Mutation_p.A412T|ZNF532_uc002lhs.2_Missense_Mutation_p.A412T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGCATCAGCCGCCGTCCTTTC	0.582													A	56586759	G	A	56586759	3	1	158	1	0	0	0	0	1	0	0	0	17969	1087	38	1	1242	1	ZNF532	18	56586759	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	340190	56586759	21490489	2536	86317											
CDH20	28316	broad.mit.edu	37	chr18	59157849	59157849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttggcatgtccttgtaCttctgggggctgatggacct	14	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:59157849C>T	uc010dps.1	+	1	75	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	CDH20_uc002lif.2_Silent_p.Y15Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	21					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TGTCCTTGTACTTCTGGGGGC	0.488													T	59157849	C	T	59157849	2	4	158	1	0	0	0	0	0	0	0	1	3106	576	20	4		4	CDH20	18	59157849	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2571090	59157849	18919399	2537	86318											
SERPINB10	5273	broad.mit.edu	37	chr18	61585320	61585320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgatatatggagagaaaaCgtatgcatttcacaatgtaa	9	5	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:61585320C>T	uc010xev.1	+	4	446	c.356C>T	c.(355-357)ACG>ATG	p.T119M	SERPINB10_uc010xew.1_Missense_Mutation_p.T119M	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	119						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	p.T119T(1)		lung(1)|kidney(1)|skin(1)	3		Esophageal squamous(42;0.131)				GGAGAGAAAACGTATGCATTT	0.348													T	61585320	C	T	61585320	3	4	158	1	0	0	0	0	1	0	0	0	14097	536	19	1	366	1	SERPINB10	18	61585320	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2427471	61585320	16491928	2538	86319											
DSEL	92126	broad.mit.edu	37	chr18	65180259	65180259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaccaacctcctcgccAgtccacttaagccactgcgc	6	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:65180259A>G	uc002lke.1	-	2	2841	c.1617T>C	c.(1615-1617)ACT>ACC	p.T539T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	529						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CCTCCTCGCCAGTCCACTTAA	0.498													G	65180259	A	G	65180259	2	3	158	1	0	0	0	0	0	0	0	1	4775	175	7	3		3	DSEL	18	65180259	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3594939	65180259	12896989	2539	86320											
DSEL	92126	broad.mit.edu	37	chr18	65181045	65181045	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagaaccatcaacaatAtgattcaatagaaacattgt	4	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:65181045A>C	uc002lke.1	-	2	2055	c.831T>G	c.(829-831)CAT>CAG	p.H277Q		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	267						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CATCAACAATATGATTCAATA	0.413													C	65181045	A	C	65181045	3	2	158	1	0	0	0	0	1	0	0	0	4775	446	16	5	2841	5	DSEL	18	65181045	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	786	65181045	12896203	2540	86321											
DSEL	92126	broad.mit.edu	37	chr18	65181751	65181751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcatctgtgaaaactgccCattcggaataattgctcaca	6	10	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:65181751C>A	uc002lke.1	-	2	1349	c.125G>T	c.(124-126)TGG>TTG	p.W42L		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	32						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GAAAACTGCCCATTCGGAATA	0.353													A	65181751	C	A	65181751	3	1	158	1	0	0	0	0	1	0	0	0	4775	595	21	5	3547	5	DSEL	18	65181751	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	706	65181751	12895497	2541	86322											
DOK6	220164	broad.mit.edu	37	chr18	67231778	67231778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctagcaaaggacccagaaGgttagaaaaatttccagatg	9	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:67231778G>T	uc002lkl.2	+	2	312	c.122G>T	c.(121-123)AGG>ATG	p.R41M		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	41	PH.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGACCCAGAAGGTTAGAAAAA	0.408													T	67231778	G	T	67231778	3	4	158	1	0	0	0	0	1	0	0	0	4701	1000	35	5	128	5	DOK6	18	67231778	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2050027	67231778	10845470	2542	86323											
RTTN	25914	broad.mit.edu	37	chr18	67817853	67817853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgtcatacctcactttcGggctcttgaatgccaaatac	6	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:67817853G>A	uc002lkp.2	-	15	2114	c.2046C>T	c.(2044-2046)CCC>CCT	p.P682P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	682							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CCTCACTTTCGGGCTCTTGAA	0.333													A	67817853	G	A	67817853	2	1	158	1	0	0	0	0	0	0	0	1	13737	1103	39	1		1	RTTN	18	67817853	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	586075	67817853	10259395	2543	86324											
CBLN2	147381	broad.mit.edu	37	chr18	70209282	70209282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcagtagcagcaacagCagggccagcgccacccccag	14	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:70209282C>T	uc002lku.2	-	2	349	c.114G>A	c.(112-114)CTG>CTA	p.L38L	CBLN2_uc002lkv.2_Silent_p.L38L	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	38	Helical; (Potential).					integral to membrane					0		Esophageal squamous(42;0.131)				GCAGCAACAGCAGGGCCAGCG	0.582													T	70209282	C	T	70209282	2	4	158	1	0	0	0	0	0	0	0	1	2705	697	25	2		2	CBLN2	18	70209282	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2391429	70209282	7867966	2544	86325											
CNDP1	84735	broad.mit.edu	37	chr18	72228205	72228205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacgtgcagcctgctgacCggggcgatgggtggctcacg	18	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:72228205C>T	uc002llq.2	+	4	629	c.418C>T	c.(418-420)CGG>TGG	p.R140W	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	140					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCCTGCTGACCGGGGCGATGG	0.622													T	72228205	C	T	72228205	3	4	158	1	0	0	0	0	1	0	0	0	3593	643	23	1	432	1	CNDP1	18	72228205	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2018923	72228205	5849043	2545	86326											
ZNF407	55628	broad.mit.edu	37	chr18	72343120	72343120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccctgagaattctatgGgcaaaagaggtttttcagaa	10	6	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:72343120G>A	uc002llw.2	+	1	202	c.145G>A	c.(145-147)GGC>AGC	p.G49S	ZNF407_uc010xfc.1_Missense_Mutation_p.G49S|ZNF407_uc010dqu.1_Missense_Mutation_p.G49S|ZNF407_uc002llu.2_Missense_Mutation_p.G48S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATTCTATGGGCAAAAGAGG	0.398													A	72343120	G	A	72343120	3	1	158	1	0	0	0	0	1	0	0	0	17884	1232	43	4	147	4	ZNF407	18	72343120	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	114915	72343120	5734128	2546	86327											
ZNF407	55628	broad.mit.edu	37	chr18	72344625	72344625	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccatgtgaaaaggtgCcatgccagagagatgaaatt	11	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:72344625C>A	uc002llw.2	+	1	1707	c.1650C>A	c.(1648-1650)TGC>TGA	p.C550*	ZNF407_uc010xfc.1_Nonsense_Mutation_p.C550*|ZNF407_uc010dqu.1_Nonsense_Mutation_p.C550*|ZNF407_uc002llu.2_Nonsense_Mutation_p.C549*	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	550	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGAAAAGGTGCCATGCCAGAG	0.443													A	72344625	C	A	72344625	4	1	158	1	0	0	0	0	0	1	0	0	17884	747	26	5	1652	5	ZNF407	18	72344625	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1505	72344625	5732623	2547	86328											
SALL3	27164	broad.mit.edu	37	chr18	76753102	76753102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagacttccgccagcggcGtcatcttccccaacccgctg	8	19	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:76753102G>A	uc002lmt.2	+	2	1111	c.1111G>A	c.(1111-1113)GTC>ATC	p.V371I	SALL3_uc010dra.2_5'UTR	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		CGCCAGCGGCGTCATCTTCCC	0.706													A	76753102	G	A	76753102	3	1	158	1	0	0	0	0	1	0	0	0	13812	1145	40	1	1117	1	SALL3	18	76753102	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4408477	76753102	1324146	2548	86329											
ATP9B	374868	broad.mit.edu	37	chr18	77133945	77133945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttcgagtctgagttcGtccacgtggtggccatctcc	11	13	3	1	rs147249454	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77133945G>A	uc002lmx.2	+	28	3132	c.3118G>A	c.(3118-3120)GTC>ATC	p.V1040I	ATP9B_uc002lmw.1_Missense_Mutation_p.V1040I|ATP9B_uc002lna.2_Missense_Mutation_p.V66I|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1040	Helical; (Potential).				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			ovary(3)	3		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)		GTCTGAGTTCGTCCACGTGGT	0.602													A	77133945	G	A	77133945	3	1	158	1	0	0	0	0	1	0	0	0	1199	1145	40	1	3228	1	ATP9B	18	77133945	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	380843	77133945	943303	2549	86330											
KCNG2	26251	broad.mit.edu	37	chr18	77659290	77659290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgcggctgctgcgtgCgctgcgcgtgctctacgtga	17	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77659290C>T	uc010xfl.1	+	2	875	c.875C>T	c.(874-876)GCG>GTG	p.A292V		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	292	Helical; Voltage-sensor; Name=Segment S4; (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCTGCGTGCGCTGCGCGTG	0.746													T	77659290	C	T	77659290	3	4	158	1	0	0	0	0	1	0	0	0	8028	768	27	1	881	1	KCNG2	18	77659290	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	525345	77659290	417958	2550	86331											
KCNG2	26251	broad.mit.edu	37	chr18	77659487	77659487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacttctccagcgtgcccGccagctattggtgggccgtc	13	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77659487G>A	uc010xfl.1	+	2	1072	c.1072G>A	c.(1072-1074)GCC>ACC	p.A358T		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	358					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CAGCGTGCCCGCCAGCTATTG	0.706													A	77659487	G	A	77659487	3	1	158	1	0	0	0	0	1	0	0	0	8028	1087	38	1	1078	1	KCNG2	18	77659487	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	197	77659487	417761	2551	86332											
KCNG2	26251	broad.mit.edu	37	chr18	77659546	77659546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacggcgacatggtcccGcgcagcctgcccgggcaggt	16	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77659546G>A	uc010xfl.1	+	2	1131	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	377					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ACATGGTCCCGCGCAGCCTGC	0.682													A	77659546	G	A	77659546	2	1	158	1	0	0	0	0	0	0	0	1	8028	1074	38	1		1	KCNG2	18	77659546	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	59	77659546	417702	2552	86333											
PARD6G	84552	broad.mit.edu	37	chr18	77917915	77917915	+	Frame_Shift_Del	DEL	G	G	-													tcatcgctctccgcctcgtcGgggtggaagttctgcaggac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77917915delG	uc002lny.2	-	3	1036	c.870delC	c.(868-870)CCCfs	p.P290fs	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	290					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		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)		CCGCCTCGTCGGGGTGGAAGT	0.751													-	77917915	G	-	77917915	7	5	158	1	0	1	0	1	0	0	0	0	11447	1103	39	0	264	0	PARD6G	18	77917915	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	258369	77917915	159333	2553	86334											
BSG	682	broad.mit.edu	37	chr19	577839	577839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtgtggagctgcactgcGaggccgtgggcagcccggtg	19	11	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:577839G>A	uc002loz.2	+	2	231	c.133G>A	c.(133-135)GAG>AAG	p.E45K	BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Intron|BSG_uc002lpb.2_Intron|BSG_uc010drr.2_Intron|BSG_uc002lpc.2_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	basigin isoform 1 precursor	45					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		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)		GCTGCACTGCGAGGCCGTGGG	0.701													A	577839	G	A	577839	3	1	158	1	0	0	0	0	1	0	0	0	1529	1059	37	1	175	1	BSG	19	577839	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		577839	58551144	2554	86335											
PRSSL1	400668	broad.mit.edu	37	chr19	694846	694846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggcggccgagaccacCcagcgggctcgcagcaggaa	16	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:694846C>A	uc002lpl.1	-	2	235	c.204G>T	c.(202-204)TGG>TGT	p.W68C	PRSSL1_uc010xfs.1_Missense_Mutation_p.W67C	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	68	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|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)		CCGAGACCACCCAGCGGGCTC	0.677													A	694846	C	A	694846	3	1	158	1	0	0	0	0	1	0	0	0	12636	624	22	5	663	5	PRSSL1	19	694846	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	117007	694846	58434137	2555	86336											
C19orf21	126353	broad.mit.edu	37	chr19	757730	757730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggaagagaacaaggtgCgtgctgtgcccacctgggcc	15	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:757730C>T	uc002lpo.2	+	2	867	c.784C>T	c.(784-786)CGT>TGT	p.R262C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	262										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|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)		GAACAAGGTGCGTGCTGTGCC	0.657													T	757730	C	T	757730	3	4	158	1	0	0	0	0	1	0	0	0	1913	768	27	1	786	1	C19orf21	19	757730	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	62884	757730	58371253	2556	86337											
ABCA7	10347	broad.mit.edu	37	chr19	1041564	1041564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcttcatcctggtggCtgttcgccactcccacccgc	7	19	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1041564C>T	uc002lqw.3	+	3	353	c.122C>T	c.(121-123)GCT>GTT	p.A41V	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Missense_Mutation_p.A41V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	41	Helical; (Potential).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		ATCCTGGTGGCTGTTCGCCAC	0.632													T	1041564	C	T	1041564	3	4	158	1	0	0	0	0	1	0	0	0	37	797	28	2	128	2	ABCA7	19	1041564	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	283834	1041564	58087419	2557	86338											
ABCA7	10347	broad.mit.edu	37	chr19	1053818	1053818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggaggagtgtgctgCggacacagatatggagggtg	21	4	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1053818C>T	uc002lqw.3	+	25	3686	c.3455C>T	c.(3454-3456)GCG>GTG	p.A1152V	ABCA7_uc010dsb.1_Missense_Mutation_p.A1014V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1152					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		GAGTGTGCTGCGGACACAGAT	0.642													T	1053818	C	T	1053818	3	4	158	1	0	0	0	0	1	0	0	0	37	768	27	1	3549	1	ABCA7	19	1053818	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	12254	1053818	58075165	2558	86339											
SBNO2	22904	broad.mit.edu	37	chr19	1123586	1123586	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccccagctcctccgccTcctcctcctcagcctcgtcc	6	23	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1123586T>G	uc002lrk.3	-	7	813	c.575A>C	c.(574-576)GAG>GCG	p.E192A	SBNO2_uc002lrj.3_Missense_Mutation_p.E135A|SBNO2_uc010dse.2_Missense_Mutation_p.E185A|SBNO2_uc010xgj.1_Missense_Mutation_p.E135A|SBNO2_uc010dsf.2_Missense_Mutation_p.E135A	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	192	Poly-Glu.				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		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)		ctcctccgcctcctcctcctc	0.537													G	1123586	T	G	1123586	3	3	158	1	0	0	0	0	1	0	0	0	13863	1551	54	5	3629	5	SBNO2	19	1123586	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	69768	1123586	58005397	2559	86340											
APC2	10297	broad.mit.edu	37	chr19	1465619	1465619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccaagactatgcttcCgattcgggctgctttgacga	11	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1465619C>T	uc002lsr.1	+	15	2527	c.2319C>T	c.(2317-2319)TCC>TCT	p.S773S	APC2_uc002lss.1_Silent_p.S355S|APC2_uc002lst.1_Silent_p.S773S|APC2_uc002lsu.1_Silent_p.S772S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	773					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)|pancreas(1)	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)		ACTATGCTTCCGATTCGGGCT	0.706													T	1465619	C	T	1465619	2	4	158	1	0	0	0	0	0	0	0	1	764	639	23	1		1	APC2	19	1465619	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	342033	1465619	57663364	2560	86341											
APC2	10297	broad.mit.edu	37	chr19	1468460	1468460	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgactccatcctgtccttCgtatccgggctgtcagtggg	11	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1468460C>T	uc002lsr.1	+	15	5368	c.5160C>T	c.(5158-5160)TTC>TTT	p.F1720F	APC2_uc002lss.1_Silent_p.F1302F|APC2_uc002lst.1_Silent_p.F1720F|APC2_uc002lsu.1_Silent_p.F1719F|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1720					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)|pancreas(1)	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)		TCCTGTCCTTCGTATCCGGGC	0.647													T	1468460	C	T	1468460	2	4	158	1	0	0	0	0	0	0	0	1	764	883	31	1		1	APC2	19	1468460	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2841	1468460	57660523	2561	86342											
MBD3	53615	broad.mit.edu	37	chr19	1578404	1578404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcctcgtcttcctcgtCgtcgtcctcagcgcaggcct	8	19	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1578404C>T	uc002ltl.1	-	6	833	c.811G>A	c.(811-813)GAC>AAC	p.D271N	uc002lti.1_5'Flank|MBD3_uc002ltj.2_Missense_Mutation_p.D271N|MBD3_uc002ltk.2_Missense_Mutation_p.D239N	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	271					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)		tcttcctcgtcgtcgtcctcA	0.587													T	1578404	C	T	1578404	3	4	158	1	0	0	0	0	1	0	0	0	9344	884	31	1	68	1	MBD3	19	1578404	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	109944	1578404	57550579	2562	86343											
CSNK1G2	1455	broad.mit.edu	37	chr19	1969934	1969934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggcaagaagatcggctgcGgcaacttcggggagctccgc	15	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1969934G>T	uc002lul.3	+	3	686	c.163G>T	c.(163-165)GGC>TGC	p.G55C	CSNK1G2_uc010dsu.2_5'UTR	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	55	Protein kinase.|ATP (By similarity).				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		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)		GATCGGCTGCGGCAACTTCGG	0.726													T	1969934	G	T	1969934	3	4	158	1	0	0	0	0	1	0	0	0	3955	1116	39	5	165	5	CSNK1G2	19	1969934	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	391530	1969934	57159049	2563	86344											
MKNK2	2872	broad.mit.edu	37	chr19	2046621	2046621	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcgggctgagcactGcaggccaaagtcagagtctc	14	12	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2046621G>A	uc002lus.2	-	3	366	c.121C>T	c.(121-123)CAG>TAG	p.Q41*	MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Nonsense_Mutation_p.Q41*	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	41					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		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)		GCTGAGCACTGCAGGCCAAAG	0.697													A	2046621	G	A	2046621	4	1	158	1	0	0	0	0	0	1	0	0	9605	1328	46	2	1419	2	MKNK2	19	2046621	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	76687	2046621	57082362	2564	86345											
DOT1L	84444	broad.mit.edu	37	chr19	2191017	2191017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgtccgcagtggaagGgcaccacgcagcccatgaag	12	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2191017G>T	uc002lvb.3	+	5	307	c.271G>T	c.(271-273)GGC>TGC	p.G91C		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	91						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	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)		GCAGTGGAAGGGCACCACGCA	0.652													T	2191017	G	T	2191017	3	4	158	1	0	0	0	0	1	0	0	0	4709	1232	43	5	289	5	DOT1L	19	2191017	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	144396	2191017	56937966	2565	86346											
SF3A2	8175	broad.mit.edu	37	chr19	2247960	2247960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccccccacagggcctgcGccctcagggcccccgggacc	12	21	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2247960G>A	uc002lvg.2	+	9	932	c.810G>A	c.(808-810)GCG>GCA	p.A270A	AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	270	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				0		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)		CAGGGCCTGCGCCCTCAGGGC	0.741													A	2247960	G	A	2247960	2	1	158	1	0	0	0	0	0	0	0	1	14147	1074	38	1		1	SF3A2	19	2247960	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	56943	2247960	56881023	2566	86347											
JSRP1	126306	broad.mit.edu	37	chr19	2252760	2252760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcggcccggggcgcaggCggcgctgatggaggcgcctg	20	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2252760C>T	uc002lvi.1	-	6	599	c.564G>A	c.(562-564)CCG>CCA	p.P188P	JSRP1_uc002lvj.1_Silent_p.P188P	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	188	Pro-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1				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)		GGGGCGCAGGCGGCGCTGATG	0.697													T	2252760	C	T	2252760	2	4	158	1	0	0	0	0	0	0	0	1	7966	755	27	1		1	JSRP1	19	2252760	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4800	2252760	56876223	2567	86348											
SPPL2B	56928	broad.mit.edu	37	chr19	2337508	2337508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccgacctccccgcccgtGgcttcagcaaccagatcccg	9	20	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2337508G>T	uc002lvs.2	+	3	333	c.253G>T	c.(253-255)GGC>TGC	p.G85C	SPPL2B_uc010dsw.1_Missense_Mutation_p.G57C|SPPL2B_uc010dsy.1_Missense_Mutation_p.G57C|SPPL2B_uc010dsz.1_Missense_Mutation_p.G85C|SPPL2B_uc002lvr.2_Missense_Mutation_p.G85C|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	85	Cytoplasmic (Potential).|PA.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		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)		CCCCGCCCGTGGCTTCAGCAA	0.657													T	2337508	G	T	2337508	3	4	158	1	0	0	0	0	1	0	0	0	15088	1348	47	5	263	5	SPPL2B	19	2337508	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	84748	2337508	56791475	2568	86349											
SLC39A3	29985	broad.mit.edu	37	chr19	2733026	2733026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcccgcaggggcatgGcactccgggccatgctgatg	15	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2733026G>A	uc002lwg.2	-	3	922	c.668C>T	c.(667-669)GCC>GTC	p.A223V	SLC39A3_uc010xgy.1_Missense_Mutation_p.A223V	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	223	Cytoplasmic (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		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)		CAGGGGCATGGCACTCCGGGC	0.701													A	2733026	G	A	2733026	3	1	158	1	0	0	0	0	1	0	0	0	14619	1203	42	2	280	2	SLC39A3	19	2733026	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	395518	2733026	56395957	2569	86350											
ZNF77	58492	broad.mit.edu	37	chr19	2934350	2934350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctgtgtgagttcttaCgtgccgtgtaaggtaggagt	13	8	2	1	rs146262812		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2934350C>T	uc002lws.3	-	4	906	c.775G>A	c.(775-777)GTA>ATA	p.V259I		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	259	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGTTCTTACGTGCCGTGTA	0.453													T	2934350	C	T	2934350	3	4	158	1	0	0	0	0	1	0	0	0	18139	536	19	1	866	1	ZNF77	19	2934350	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	201324	2934350	56194633	2570	86351											
TLE2	7089	broad.mit.edu	37	chr19	3005872	3005872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacggggggtgggcgccgccAggtcccaaatggacaaggtg	18	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3005872A>G	uc002lww.2	-	16	1858	c.1595T>C	c.(1594-1596)CTG>CCG	p.L532P	TLE2_uc010xhb.1_Missense_Mutation_p.L199P|TLE2_uc010dth.2_Missense_Mutation_p.L533P|TLE2_uc010xhc.1_Missense_Mutation_p.L410P|TLE2_uc010dti.2_Missense_Mutation_p.L546P	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	532	WD 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		GGGCGCCGCCAGGTCCCAAAT	0.647													G	3005872	A	G	3005872	3	3	158	1	0	0	0	0	1	0	0	0	15936	188	7	3	656	3	TLE2	19	3005872	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	71522	3005872	56123111	2571	86352											
S1PR4	8698	broad.mit.edu	37	chr19	3179875	3179875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaagggacagctttcGcggctcccgctcgctcagct	13	15	1	0	rs141031634	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3179875G>A	uc002lxg.2	+	1	1110	c.1085G>A	c.(1084-1086)CGC>CAC	p.R362H		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	362	Cytoplasmic (By similarity).				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			lung(1)|skin(1)	2						GACAGCTTTCGCGGCTCCCGC	0.672													A	3179875	G	A	3179875	3	1	158	1	0	0	0	0	1	0	0	0	13796	1087	38	1	1087	1	S1PR4	19	3179875	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	174003	3179875	55949108	2572	86353											
TBXA2R	6915	broad.mit.edu	37	chr19	3600080	3600080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcggcgcccagcgtcaGgaagcaccaggaccccgggt	15	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3600080G>A	uc002lyg.1	-	2	767	c.553C>T	c.(553-555)CTG>TTG	p.L185L	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	185	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CCCAGCGTCAGGAAGCACCAG	0.716													A	3600080	G	A	3600080	2	1	158	1	0	0	0	0	0	0	0	1	15660	991	35	4		4	TBXA2R	19	3600080	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	420205	3600080	55528903	2573	86354											
ZFR2	23217	broad.mit.edu	37	chr19	3819150	3819150	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacggccctctgcacggcCaggagctcctgctccgtggg	14	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3819150C>A	uc002lyw.2	-	12	1836	c.1824G>T	c.(1822-1824)CTG>CTT	p.L608L		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	608						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTGCACGGCCAGGAGCTCCT	0.721													A	3819150	C	A	3819150	2	1	158	1	0	0	0	0	0	0	0	1	17657	581	21	5		5	ZFR2	19	3819150	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	219070	3819150	55309833	2574	86355											
PIAS4	51588	broad.mit.edu	37	chr19	4037483	4037483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcagctgcagcccgcaGggcgccatcctcgtgctggg	16	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4037483G>T	uc002lzg.2	+	10	1264	c.1254G>T	c.(1252-1254)CAG>CAT	p.Q418H		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	418					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			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCCCGCAGGGCGCCATCC	0.652													T	4037483	G	T	4037483	3	4	158	1	0	0	0	0	1	0	0	0	11878	991	35	5	1292	5	PIAS4	19	4037483	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	218333	4037483	55091500	2575	86356											
CCDC94	55702	broad.mit.edu	37	chr19	4249260	4249261	+	Frame_Shift_Ins	INS	-	-	C													actttgacccatcaaagatcINScccaaactcaagctccccaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4249259_4249260T>TC	uc002lzv.4	+	1	92_93	c.59_60T>TC	c.(58-60)atcfs	p.I20fs		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	20										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCATCAAAGATCCCCAAACTCA	0.579													C	4249261	-	C	4249260	7	5	158	1	0	1	1	0	0	0	0	0	2873	845	30	0	66	0	CCDC94	19	4249260	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	211777	4249260	54879723	2576	86357											
TMIGD2	126259	broad.mit.edu	37	chr19	4298154	4298154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctggggcccgcagacccCcaggctgaggctgccgttgg	15	16	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4298154C>A	uc002lzx.1	-	2	281	c.235G>T	c.(235-237)GGG>TGG	p.G79W	TMIGD2_uc010dtv.1_Missense_Mutation_p.G79W	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	79	Extracellular (Potential).|Ig-like.					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCAGACCCCCAGGCTGAGG	0.657													A	4298154	C	A	4298154	3	1	158	1	0	0	0	0	1	0	0	0	16228	623	22	5	629	5	TMIGD2	19	4298154	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	48894	4298154	54830829	2577	86358											
UBXN6	80700	broad.mit.edu	37	chr19	4446367	4446367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctccttctcccgcaTggccttggtccgcagcacgc	9	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4446367T>C	uc002man.1	-	9	1060	c.964A>G	c.(964-966)ATG>GTG	p.M322V	UBXN6_uc010dty.1_Missense_Mutation_p.M226V|UBXN6_uc002mam.1_Missense_Mutation_p.M269V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	322						microtubule organizing center|nucleus	protein binding				0						TTCTCCCGCATGGCCTTGGTC	0.721													C	4446367	T	C	4446367	3	2	158	1	0	0	0	0	1	0	0	0	16914	1464	51	3	373	3	UBXN6	19	4446367	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	148213	4446367	54682616	2578	86359											
DPP9	91039	broad.mit.edu	37	chr19	4683643	4683643	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgatctccacctggcccTgagggatgaagccgggcacc	12	16	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4683643T>C	uc002mba.2	-	19	2437	c.2179_splice	c.e19-1	p.G727_splice		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9						proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CACCTGGCCCTGAGGGATGAA	0.627													C	4683643	T	C	4683643	5	2	158	1	0	0	0	0	0	0	1	0	4733	1594	55	3	517	3	DPP9	19	4683643	Splice_Site	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	237276	4683643	54445340	2579	86360											
PLIN3	10226	broad.mit.edu	37	chr19	4847789	4847789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcgagtgctcataggCgtgctgccgcagcctctccg	13	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4847789C>T	uc002mbj.2	-	6	925	c.748G>A	c.(748-750)GCC>ACC	p.A250T	PLIN3_uc002mbk.2_Missense_Mutation_p.A238T|PLIN3_uc002mbl.3_Missense_Mutation_p.A250T	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	250					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	TGCTCATAGGCGTGCTGCCGC	0.637													T	4847789	C	T	4847789	3	4	158	1	0	0	0	0	1	0	0	0	12091	768	27	1	568	1	PLIN3	19	4847789	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	164146	4847789	54281194	2580	86361											
UHRF1	29128	broad.mit.edu	37	chr19	4932904	4932904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggggcttctggtacgacGcggagatctccaggaagcgc	16	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4932904G>A	uc002mbo.2	+	5	889	c.721G>A	c.(721-723)GCG>ACG	p.A241T	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.A254T	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	241					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			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CTGGTACGACGCGGAGATCTC	0.657													A	4932904	G	A	4932904	3	1	158	1	0	0	0	0	1	0	0	0	16964	1087	38	1	774	1	UHRF1	19	4932904	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	85115	4932904	54196079	2581	86362											
C19orf70	125988	broad.mit.edu	37	chr19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-													tggctgaactggtacatggcGggggggaccacctccccagc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:5679653_5679653CG>C	uc002mch.1	-	1	565	c.151_151CG>G	c.(151-153)gccfs	p.A51fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	51							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACC	0.667													-	5679654	G	-	5679654	7	5	158	1	0	1	0	1	0	0	0	0	1947	1103	39	0	218	0	C19orf70	19	5679654	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	746750	5679654	53449329	2582	86363											
CAPS	828	broad.mit.edu	37	chr19	5915019	5915019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggaccgcagtggggaCggcgtcgtgacggtggacga	19	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:5915019C>T	uc002mdt.2	+	4	480	c.330C>T	c.(328-330)GAC>GAT	p.D110D	CAPS_uc002mdu.2_Silent_p.D110D	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	calcyphosine isoform a	110	EF-hand 3.|3.				intracellular signal transduction	cytoplasm	calcium ion binding				0						GCAGTGGGGACGGCGTCGTGA	0.701													T	5915019	C	T	5915019	2	4	158	1	0	0	0	0	0	0	0	1	2637	535	19	1		1	CAPS	19	5915019	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	235365	5915019	53213964	2583	86364											
RANBP3	8498	broad.mit.edu	37	chr19	5941834	5941834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccttcaggactggagcCgccagctgacctctgaaaca	10	15	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:5941834C>T	uc002mdw.2	-	4	522	c.295G>A	c.(295-297)GGC>AGC	p.G99S	RANBP3_uc002mdx.2_Missense_Mutation_p.G99S|RANBP3_uc002mdy.2_Missense_Mutation_p.G31S|RANBP3_uc002mdz.2_Missense_Mutation_p.G31S|RANBP3_uc010duq.2_5'UTR|RANBP3_uc002mea.2_Intron|RANBP3_uc010xix.1_Intron	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	99					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGACTGGAGCCGCCAGCTGAC	0.532													T	5941834	C	T	5941834	3	4	158	1	0	0	0	0	1	0	0	0	13029	652	23	1	1464	1	RANBP3	19	5941834	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26815	5941834	53187149	2584	86365											
RFX2	5990	broad.mit.edu	37	chr19	6047472	6047472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggacgcagagccacggaCgctggcgaatccgctccacc	14	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:6047472C>T	uc002meb.2	-	2	305	c.36G>A	c.(34-36)GCG>GCA	p.A12A	RFX2_uc002mec.2_Silent_p.A12A|RFX2_uc010xiy.1_Intron	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GAGCCACGGACGCTGGCGAAT	0.637											OREG0025192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6047472	C	T	6047472	2	4	158	1	0	0	0	0	0	0	0	1	13263	523	19	1		1	RFX2	19	6047472	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	105638	6047472	53081511	2585	86366											
TUBB4	10382	broad.mit.edu	37	chr19	6501365	6501365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacagagtccatggtgccGggttccaggtccaccagcac	13	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:6501365G>A	uc002mfg.1	-	3	317	c.210C>T	c.(208-210)CCC>CCT	p.P70P	TUBB4_uc002mff.1_5'UTR	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	70					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CCATGGTGCCGGGTTCCAGGT	0.617													A	6501365	G	A	6501365	2	1	158	1	0	0	0	0	0	0	0	1	16755	1103	39	1		1	TUBB4	19	6501365	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	453893	6501365	52627618	2586	86367											
TNFSF14	8740	broad.mit.edu	37	chr19	6665335	6665335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccataacagcggcccccCgctgccggtcaagctggagt	11	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:6665335C>T	uc002mfk.1	-	5	707	c.325G>A	c.(325-327)GGG>AGG	p.G109R	TNFSF14_uc002mfj.1_Missense_Mutation_p.G73R	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	109	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						AGCGGCCCCCCGCTGCCGGTC	0.562													T	6665335	C	T	6665335	3	4	158	1	0	0	0	0	1	0	0	0	16304	652	23	1	401	1	TNFSF14	19	6665335	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	163970	6665335	52463648	2587	86368											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509263	7509263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgctcggctcaaggagCgccgccaggagtccctggag	14	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:7509263C>T	uc002mgi.2	+	4	1223	c.970C>T	c.(970-972)CGC>TGC	p.R324C	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R166C|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R166C|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	324	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			ovary(1)	1		Renal(5;0.0902)				GCTCAAGGAGCGCCGCCAGGA	0.622													T	7509263	C	T	7509263	3	4	158	1	0	0	0	0	1	0	0	0	901	768	27	1	984	1	ARHGEF18	19	7509263	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	843928	7509263	51619720	2588	86369											
PNPLA6	10908	broad.mit.edu	37	chr19	7619468	7619468	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttccggctgtcagggtgGctggcccagcaggaggatgc	18	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:7619468G>A	uc010xjq.1	+	23	2718	c.2523G>A	c.(2521-2523)TGG>TGA	p.W841*	PNPLA6_uc002mgq.1_Nonsense_Mutation_p.W793*|PNPLA6_uc010xjp.1_Nonsense_Mutation_p.W766*|PNPLA6_uc002mgr.1_Nonsense_Mutation_p.W793*|PNPLA6_uc002mgs.2_Nonsense_Mutation_p.W831*|PNPLA6_uc002mgt.1_5'Flank	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	832	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						TGTCAGGGTGGCTGGCCCAGC	0.657													A	7619468	G	A	7619468	4	1	158	1	0	0	0	0	0	1	0	0	12169	1212	42	2	2609	2	PNPLA6	19	7619468	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	110205	7619468	51509515	2589	86370											
LRRC8E	80131	broad.mit.edu	37	chr19	7965099	7965099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacctgcagaggctcagCctgcacaacgatggggcccg	14	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:7965099C>T	uc002mir.2	+	3	1793	c.1692C>T	c.(1690-1692)AGC>AGT	p.S564S		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	564	LRR 3.					integral to membrane				lung(1)|pancreas(1)	2						AGAGGCTCAGCCTGCACAACG	0.662													T	7965099	C	T	7965099	2	4	158	1	0	0	0	0	0	0	0	1	9025	738	26	2		2	LRRC8E	19	7965099	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	345631	7965099	51163884	2590	86371											
FBN3	84467	broad.mit.edu	37	chr19	8156411	8156411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaggcactggaagctcCcagggctgttggtacaggtg	17	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8156411C>A	uc002mjf.2	-	47	5990	c.5969G>T	c.(5968-5970)GGG>GTG	p.G1990V	FBN3_uc002mje.2_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1990	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTGGAAGCTCCCAGGGCTGTT	0.592													A	8156411	C	A	8156411	3	1	158	1	0	0	0	0	1	0	0	0	5704	623	22	5	2528	5	FBN3	19	8156411	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	191312	8156411	50972572	2591	86372											
FBN3	84467	broad.mit.edu	37	chr19	8186207	8186207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacactcgcactcaaagctgCccggcgtgttgacacaggtg	11	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8186207C>T	uc002mjf.2	-	24	3167	c.3146G>A	c.(3145-3147)GGC>GAC	p.G1049D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1049	EGF-like 13; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTCAAAGCTGCCCGGCGTGTT	0.637													T	8186207	C	T	8186207	3	4	158	1	0	0	0	0	1	0	0	0	5704	739	26	2	5443	2	FBN3	19	8186207	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	29796	8186207	50942776	2592	86373											
FBN3	84467	broad.mit.edu	37	chr19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-													ccatccgtgcctaccgccagCccccccaggcactggcagcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8196624_8196624GC>G	uc002mjf.3	-	13	1821	c.1804_1804GC>C	c.(1804-1806)ctgfs	p.L602fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	602	EGF-like 7; 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						CCTACCGCCAGCCCCCCCAGG	0.677													-	8196625	C	-	8196625	7	5	158	1	0	1	0	1	0	0	0	0	5704	726	26	0	6826	0	FBN3	19	8196625	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	10418	8196625	50932358	2593	86374											
FBN3	84467	broad.mit.edu	37	chr19	8201336	8201336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagcggtagctggaaggCgtgggcaggcagcggccatt	18	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8201336C>T	uc002mjf.2	-	10	1302	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	427	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						AGCTGGAAGGCGTGGGCAGGC	0.652													T	8201336	C	T	8201336	2	4	158	1	0	0	0	0	0	0	0	1	5704	755	27	1		1	FBN3	19	8201336	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4711	8201336	50927647	2594	86375											
CD320	51293	broad.mit.edu	37	chr19	8368790	8368790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggtggccgtcgcagcGccacgtgagtggaatgcagt	17	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8368790G>A	uc002mjj.1	-	3	516	c.451C>T	c.(451-453)CGC>TGC	p.R151C	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.R109C	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	151	Extracellular (Potential).|LDL-receptor class A 2.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						CCGTCGCAGCGCCACGTGAGT	0.657													A	8368790	G	A	8368790	3	1	158	1	0	0	0	0	1	0	0	0	3004	1087	38	1	409	1	CD320	19	8368790	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	167454	8368790	50760193	2595	86376											
KANK3	256949	broad.mit.edu	37	chr19	8387793	8387793	+	Frame_Shift_Del	DEL	G	G	-													gtgtggctgtctgggagccaGggggtgactcgctctggaga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8387792_8387792AG>A	uc010dwa.3	-	10	2463	c.2397_2397CT>T	c.(2395-2397)cctfs	p.P799fs	NDUFA7_uc002mjm.2_5'Flank	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	423										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TCTGGGAGCCAGGGGGTGACT	0.592													-	8387793	G	-	8387793	7	5	158	1	0	1	0	1	0	0	0	0	7978	1000	35	0	73	0	KANK3	19	8387793	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	19003	8387793	50741190	2596	86377											
MYO1F	4542	broad.mit.edu	37	chr19	8609306	8609306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccgtggcgtgcatggTggcgcacacgtcgtccaaga	14	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8609306T>C	uc002mkg.2	-	14	1513	c.1399A>G	c.(1399-1401)ACC>GCC	p.T467A		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	467	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GCGTGCATGGTGGCGCACACG	0.677													C	8609306	T	C	8609306	3	2	158	1	0	0	0	0	1	0	0	0	10073	1696	59	3	1957	3	MYO1F	19	8609306	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	221513	8609306	50519677	2597	86378											
ADAMTS10	81794	broad.mit.edu	37	chr19	8654234	8654234	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcggagcccaggactcGgtcgcagcccacgtgctgcg	15	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8654234G>A	uc002mkj.1	-	18	2324	c.2050C>T	c.(2050-2052)CGA>TGA	p.R684*	ADAMTS10_uc002mki.1_Nonsense_Mutation_p.R171*|ADAMTS10_uc002mkk.1_Nonsense_Mutation_p.R316*	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	684	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CCCAGGACTCGGTCGCAGCCC	0.692													A	8654234	G	A	8654234	4	1	158	1	0	0	0	0	0	1	0	0	256	1124	39	1	1297	1	ADAMTS10	19	8654234	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	44928	8654234	50474749	2598	86379											
MUC16	94025	broad.mit.edu	37	chr19	9057577	9057577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagaacttttttgggtggTgatggtcatttgtgttgatt	14	2	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:9057577T>C	uc002mkp.2	-	3	30073	c.29869A>G	c.(29869-29871)ACC>GCC	p.T9957A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9959	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTTGGGTGGTGATGGTCATT	0.498													C	9057577	T	C	9057577	3	2	158	1	0	0	0	0	1	0	0	0	9973	1696	59	3	13982	3	MUC16	19	9057577	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	403343	9057577	50071406	2599	86380											
MUC16	94025	broad.mit.edu	37	chr19	9072308	9072308	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtggtcattgcaggTgaggacagaaaggaagaggg	19	3	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:9072308T>C	uc002mkp.2	-	3	15342	c.15138A>G	c.(15136-15138)TCA>TCG	p.S5046S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5048	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCATTGCAGGTGAGGACAGAA	0.478													C	9072308	T	C	9072308	2	2	158	1	0	0	0	0	0	0	0	1	9973	1683	59	3		3	MUC16	19	9072308	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	14731	9072308	50056675	2600	86381											
MUC16	94025	broad.mit.edu	37	chr19	9090342	9090342	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtgctggaactctgcctCccagaggtgctgcctgtggt	14	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:9090342C>T	uc002mkp.2	-	1	1677	c.1473G>A	c.(1471-1473)GGG>GGA	p.G491G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	491	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AACTCTGCCTCCCAGAGGTGC	0.532													T	9090342	C	T	9090342	2	4	158	1	0	0	0	0	0	0	0	1	9973	842	30	4		4	MUC16	19	9090342	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	18034	9090342	50038641	2601	86382											
COL5A3	50509	broad.mit.edu	37	chr19	10116619	10116619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgattggctggctgtcccCgcaaggtgatcagcaaggag	14	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10116619C>T	uc002mmq.1	-	3	376	c.290G>A	c.(289-291)CGG>CAG	p.R97Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	97	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TGGCTGTCCCCGCAAGGTGAT	0.622													T	10116619	C	T	10116619	3	4	158	1	0	0	0	0	1	0	0	0	3698	652	23	1	5207	1	COL5A3	19	10116619	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1026277	10116619	49012364	2602	86383											
ICAM5	7087	broad.mit.edu	37	chr19	10403761	10403761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgctgcgaggcccgcgGgaacccagaaccctcagtgc	14	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10403761G>A	uc002mnu.3	+	6	1369	c.1304G>A	c.(1303-1305)GGG>GAG	p.G435E	ICAM5_uc002mnv.3_Missense_Mutation_p.G310E	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	435	Extracellular (Potential).|Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGGCCCGCGGGAACCCAGAA	0.716													A	10403761	G	A	10403761	3	1	158	1	0	0	0	0	1	0	0	0	7483	1232	43	4	1326	4	ICAM5	19	10403761	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	287142	10403761	48725222	2603	86384											
ICAM5	7087	broad.mit.edu	37	chr19	10403790	10403790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctcagtgcactgtgcgCgctccgacggcggggccgtg	15	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10403790C>T	uc002mnu.3	+	6	1398	c.1333C>T	c.(1333-1335)CGC>TGC	p.R445C	ICAM5_uc002mnv.3_Missense_Mutation_p.R320C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	445	Extracellular (Potential).|Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCACTGTGCGCGCTCCGACGG	0.697													T	10403790	C	T	10403790	3	4	158	1	0	0	0	0	1	0	0	0	7483	768	27	1	1355	1	ICAM5	19	10403790	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	29	10403790	48725193	2604	86385											
ICAM5	7087	broad.mit.edu	37	chr19	10405119	10405119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgcccaagtcaccagaCgtggctggaaggggctgagg	15	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10405119C>T	uc002mnu.3	+	9	2098	c.2033C>T	c.(2032-2034)ACG>ATG	p.T678M	ICAM5_uc002mnv.3_Missense_Mutation_p.T553M	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	678	Extracellular (Potential).|Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGTCACCAGACGTGGCTGGAA	0.682													T	10405119	C	T	10405119	3	4	158	1	0	0	0	0	1	0	0	0	7483	536	19	1	2067	1	ICAM5	19	10405119	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1329	10405119	48723864	2605	86386											
RAVER1	125950	broad.mit.edu	37	chr19	10434093	10434093	+	Frame_Shift_Del	DEL	G	G	-													gcggccagcatactgcggccGgggggcccaggggcgcagaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10434093delG	uc002moa.2	-	4	1037	c.957delC	c.(955-957)CCCfs	p.P319fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	302						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACTGCGGCCGGGGGGCCCAG	0.716													-	10434093	G	-	10434093	7	5	158	1	0	1	0	1	0	0	0	0	13094	1103	39	0	1353	0	RAVER1	19	10434093	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	28974	10434093	48694890	2606	86387											
TYK2	7297	broad.mit.edu	37	chr19	10467270	10467270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagccgggtgaggtcaCgcaggatggtgcggaatgat	18	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10467270C>T	uc002moc.3	-	18	2969	c.2591G>A	c.(2590-2592)CGT>CAT	p.R864H	TYK2_uc010dxe.2_Missense_Mutation_p.R679H	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	864	Protein kinase 1.				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			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGTGAGGTCACGCAGGATGGT	0.657													T	10467270	C	T	10467270	3	4	158	1	0	0	0	0	1	0	0	0	16807	536	19	1	1004	1	TYK2	19	10467270	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	33177	10467270	48661713	2607	86388											
CDC37	11140	broad.mit.edu	37	chr19	10506876	10506876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccatgcgttccacccGggcctgcgggcagggacggc	15	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10506876G>A	uc002mof.1	-	2	222	c.106C>T	c.(106-108)CGG>TGG	p.R36W	CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.R36W|CDC37_uc002moh.2_Missense_Mutation_p.R36W	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	36					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				0			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)		CGTTCCACCCGGGCCTGCGGG	0.632													A	10506876	G	A	10506876	3	1	158	1	0	0	0	0	1	0	0	0	3068	1115	39	1	1058	1	CDC37	19	10506876	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	39606	10506876	48622107	2608	86389											
KEAP1	9817	broad.mit.edu	37	chr19	10602938	10602938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcctcttgcttggccaCctgcagagggcgacagtggg	14	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10602938C>T	uc002moq.1	-	3	796	c.640G>A	c.(640-642)GTG>ATG	p.V214M	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.V214M	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	214	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGCTTGGCCACCTGCAGAGGG	0.522													T	10602938	C	T	10602938	3	4	158	1	0	0	0	0	1	0	0	0	8141	521	18	4	1250	4	KEAP1	19	10602938	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	96062	10602938	48526045	2609	86390											
KRI1	65095	broad.mit.edu	37	chr19	10670333	10670333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctcttctcctttctgcGctcatccttacggcgcacgg	7	17	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10670333G>A	uc002moy.1	-	11	1006	c.997C>T	c.(997-999)CGC>TGC	p.R333C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R329C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	333	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTTTCTGCGCTCATCCTTA	0.617													A	10670333	G	A	10670333	3	1	158	1	0	0	0	0	1	0	0	0	8444	1087	38	1	1168	1	KRI1	19	10670333	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	67395	10670333	48458650	2610	86391											
QTRT1	81890	broad.mit.edu	37	chr19	10818220	10818220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgcagcccatcagcggcCggacaagcagaacctcttcg	10	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10818220C>A	uc002mpr.2	+	5	600	c.575C>A	c.(574-576)CCG>CAG	p.P192Q		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	192					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CATCAGCGGCCGGACAAGCAG	0.652													A	10818220	C	A	10818220	3	1	158	1	0	0	0	0	1	0	0	0	12885	652	23	5	593	5	QTRT1	19	10818220	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	147887	10818220	48310763	2611	86392											
YIPF2	78992	broad.mit.edu	37	chr19	11034678	11034678	+	Splice_Site	DEL	G	G	-													tgatgcctgccacggtcactGgggggggcaaggtgagcagt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11034677_11034677TG>T	uc002mqc.3	-	7	612	c.485_splice	c.e7-1	p.V162_splice	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Splice_Site_p.V162_splice	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	162						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCACGGTCACTGGGGGGGGCA	0.672													-	11034678	G	-	11034678	8	5	158	1	0	1	0	1	0	0	1	0	17475	1363	47	0		0	YIPF2	19	11034678	Splice_Site	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	216458	11034678	48094305	2612	86393											
SMARCA4	6597	broad.mit.edu	37	chr19	11132481	11132481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacgcaggtgctcaacacGcactatgtggcaccccgccg	11	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11132481G>A	uc002mqf.3	+	19	2981	c.2697G>A	c.(2695-2697)ACG>ACA	p.T899T	SMARCA4_uc010dxp.2_Silent_p.T899T|SMARCA4_uc010dxo.2_Silent_p.T899T|SMARCA4_uc002mqg.1_Silent_p.T899T|SMARCA4_uc010dxq.2_Silent_p.T899T|SMARCA4_uc010dxr.2_Silent_p.T899T|SMARCA4_uc002mqj.3_Silent_p.T899T|SMARCA4_uc010dxs.2_Silent_p.T899T|SMARCA4_uc010dxt.1_Silent_p.T119T|SMARCA4_uc002mqh.3_Silent_p.T22T|SMARCA4_uc002mqi.1_Silent_p.T102T	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	899	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.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCTCAACACGCACTATGTGG	0.617			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11132481	G	A	11132481	2	1	158	1	0	0	0	0	0	0	0	1	14770	1074	38	1		1	SMARCA4	19	11132481	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	97803	11132481	47996502	2613	86394											
KANK2	25959	broad.mit.edu	37	chr19	11304231	11304231	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactgggaggcaccggtgtGgacagtcctgaactccgtgg	16	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11304231G>T	uc010dxv.2	-	6	1083	c.525C>A	c.(523-525)TCC>TCA	p.S175S	KANK2_uc002mqm.2_Silent_p.S175S|KANK2_uc002mqo.3_Silent_p.S175S|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Silent_p.S175S	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	175											0						GCACCGGTGTGGACAGTCCTG	0.721													T	11304231	G	T	11304231	2	4	158	1	0	0	0	0	0	0	0	1	7977	1335	47	5		5	KANK2	19	11304231	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	171750	11304231	47824752	2614	86395											
DOCK6	57572	broad.mit.edu	37	chr19	11352750	11352750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatggggggcatagacttcGcgggcggggaactccagaat	17	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11352750G>A	uc002mqs.3	-	14	1655	c.1614C>T	c.(1612-1614)CGC>CGT	p.R538R		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	538					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CATAGACTTCGCGGGCGGGGA	0.612													A	11352750	G	A	11352750	2	1	158	1	0	0	0	0	0	0	0	1	4691	1074	38	1		1	DOCK6	19	11352750	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	48519	11352750	47776233	2615	86396											
RGL3	57139	broad.mit.edu	37	chr19	11505147	11505147	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatgaagtctctgggggcGactggactcatggcatagaa	14	8	2	2	rs149567445	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11505147G>A	uc002mrp.2	-	19	2128	c.2064C>T	c.(2062-2064)GTC>GTT	p.V688V	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mro.2_Silent_p.V694V	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	688	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CTCTGGGGGCGACTGGACTCA	0.567													A	11505147	G	A	11505147	2	1	158	1	0	0	0	0	0	0	0	1	13278	1045	37	1		1	RGL3	19	11505147	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	152397	11505147	47623836	2616	86397											
CCDC151	115948	broad.mit.edu	37	chr19	11541563	11541563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcttctcccacttccattCgcgaatcactgcctggacca	7	16	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11541563C>T	uc002mrs.2	-	3	543	c.400G>A	c.(400-402)GAA>AAA	p.E134K	CCDC151_uc002mrr.2_Missense_Mutation_p.E69K|CCDC151_uc010dxz.2_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	134	Potential.									ovary(1)	1						CACTTCCATTCGCGAATCACT	0.572													T	11541563	C	T	11541563	3	4	158	1	0	0	0	0	1	0	0	0	2786	893	31	1	1431	1	CCDC151	19	11541563	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	36416	11541563	47587420	2617	86398											
ZNF791	163049	broad.mit.edu	37	chr19	12739502	12739503	+	Frame_Shift_Ins	INS	-	-	A													agagaaaccctacgaatgtaINSaaaaatgtgggaaaactttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12739501_12739502T>TA	uc002mua.2	+	3	1320_1321	c.1158_1159T>TA	c.(1156-1161)tgtaaafs	p.C386fs	ZNF791_uc010xml.1_Frame_Shift_Ins_p.C354fs|ZNF791_uc010dyu.1_Frame_Shift_Ins_p.C277fs|ZNF791_uc010xmm.1_Frame_Shift_Ins_p.C277fs	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K388fs*10(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CCTACGAATGTAAAAAATGTGG	0.361													A	12739503	-	A	12739502	7	5	158	1	0	1	1	0	0	0	0	0	18160	363	13	0	1173	0	ZNF791	19	12739502	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1197939	12739502	46389481	2618	86399											
FBXW9	84261	broad.mit.edu	37	chr19	12800974	12800975	+	Frame_Shift_Ins	INS	-	-	C													tatcagagcccctcgaaggcINScccccccagcccatgagagc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12800973_12800974G>GC	uc010dyx.2	-	5	894_895	c.894_895C>GC	c.(892-897)gggcctfs	p.G298fs	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	308							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624													C	12800975	-	C	12800974	7	5	158	1	0	1	1	0	0	0	0	0	5771	754	26	0		0	FBXW9	19	12800974	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	61472	12800974	46328009	2619	86400											
HOOK2	29911	broad.mit.edu	37	chr19	12876754	12876754	+	Frame_Shift_Del	DEL	C	C	-													cactcacatcttcagtcttgCccccctgctcctgcagggct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12876753_12876753GC>G	uc002muy.2	-	15	1758	c.1587_1587GC>C	c.(1585-1587)ggcfs	p.G529fs	HOOK2_uc002muz.2_Frame_Shift_Del_p.G529fs	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	529	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	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTTCAGTCTTGCCCCCCTGCT	0.652											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	12876754	C	-	12876754	7	5	158	1	0	1	0	1	0	0	0	0	7283	739	26	0	605	0	HOOK2	19	12876754	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	75780	12876754	46252229	2620	86401											
DNASE2	1777	broad.mit.edu	37	chr19	12989513	12989513	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaactgagcgaagggaaaaGacacacagagcagggtctgc	14	8	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12989513G>T	uc002mvn.1	-	4	628	c.482C>A	c.(481-483)TCT>TAT	p.S161Y	DNASE2_uc010xmr.1_Intron	NM_001375	NP_001366	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal precursor	161				Missing (in Ref. 8; AAB51172).	apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding				0						GAAGGGAAAAGACACACAGAG	0.552								Direct_reversal_of_damage					T	12989513	G	T	12989513	3	4	158	1	0	0	0	0	1	0	0	0	4664	942	33	5	612	5	DNASE2	19	12989513	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	112759	12989513	46139470	2621	86402											
NACC1	112939	broad.mit.edu	37	chr19	13249171	13249171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagcatggcttcgagaCcgccagccacgagggcgagg	17	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:13249171C>T	uc002mwm.2	+	6	1703	c.1535C>T	c.(1534-1536)ACC>ATC	p.T512I		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	512					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						GGCTTCGAGACCGCCAGCCAC	0.637													T	13249171	C	T	13249171	3	4	158	1	0	0	0	0	1	0	0	0	10135	507	18	4	1553	4	NACC1	19	13249171	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	259658	13249171	45879812	2622	86403											
CACNA1A	773	broad.mit.edu	37	chr19	13616881	13616881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtccgcgctctctgcGccattgactgcttgtacatc	9	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:13616881G>A	uc010dze.2	-	1	394	c.158C>T	c.(157-159)GCG>GTG	p.A53V	CACNA1A_uc002mwy.3_Missense_Mutation_p.A53V	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	53	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTCTCTGCGCCATTGACTG	0.677													A	13616881	G	A	13616881	3	1	158	1	0	0	0	0	1	0	0	0	2538	1087	38	1	7664	1	CACNA1A	19	13616881	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	367710	13616881	45512102	2623	86404											
PKN1	5585	broad.mit.edu	37	chr19	14574686	14574686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacatcgatgtcgccacGtgggtgcggctgctccggag	15	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:14574686G>A	uc002myp.2	+	11	1710	c.1542G>A	c.(1540-1542)ACG>ACA	p.T514T	PKN1_uc002myq.2_Silent_p.T520T	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	514					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			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						ATGTCGCCACGTGGGTGCGGC	0.672													A	14574686	G	A	14574686	2	1	158	1	0	0	0	0	0	0	0	1	11979	1132	40	1		1	PKN1	19	14574686	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	957805	14574686	44554297	2624	86405											
CASP14	23581	broad.mit.edu	37	chr19	15164693	15164693	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaagctggagaatctcttCgaggccctgaacaacaagaa	10	10	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15164693C>T	uc010dzv.1	+	4	635	c.327C>T	c.(325-327)TTC>TTT	p.F109F	CASP14_uc002naf.2_Silent_p.F109F	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	109					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						AGAATCTCTTCGAGGCCCTGA	0.562													T	15164693	C	T	15164693	2	4	158	1	0	0	0	0	0	0	0	1	2670	883	31	1		1	CASP14	19	15164693	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	590007	15164693	43964290	2625	86406											
ILVBL	10994	broad.mit.edu	37	chr19	15234194	15234194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgccctcaccggacaggCgggccatagcatcagcagca	11	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15234194C>T	uc002nam.2	-	3	450	c.329G>A	c.(328-330)CGC>CAC	p.R110H	ILVBL_uc010dzw.2_Missense_Mutation_p.R3H|ILVBL_uc010dzx.1_Missense_Mutation_p.R110H	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	110						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						ACCGGACAGGCGGGCCATAGC	0.602													T	15234194	C	T	15234194	3	4	158	1	0	0	0	0	1	0	0	0	7715	768	27	1	1625	1	ILVBL	19	15234194	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	69501	15234194	43894789	2626	86407											
NOTCH3	4854	broad.mit.edu	37	chr19	15291822	15291822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcagcggaagccagGgtgggcggcgctgcagacgc	20	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15291822G>A	uc002nan.2	-	18	3020	c.2944C>T	c.(2944-2946)CCT>TCT	p.P982S	NOTCH3_uc002nao.1_Missense_Mutation_p.P930S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	982	Extracellular (Potential).|EGF-like 25.				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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGAAGCCAGGGTGGGCGGCG	0.637													A	15291822	G	A	15291822	3	1	158	1	0	0	0	0	1	0	0	0	10550	1232	43	4	4085	4	NOTCH3	19	15291822	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	57628	15291822	43837161	2627	86408											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580722	15580722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccctcgtacacgtagccGtccgagcccaccacgaaact	8	18	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15580722G>A	uc002nbf.3	-	4	1495	c.1362C>T	c.(1360-1362)GAC>GAT	p.D454D	PGLYRP2_uc002nbg.3_Silent_p.D454D	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	454					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			ovary(3)	3						ACACGTAGCCGTCCGAGCCCA	0.682													A	15580722	G	A	15580722	2	1	158	1	0	0	0	0	0	0	0	1	11794	1136	40	1		1	PGLYRP2	19	15580722	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	288900	15580722	43548261	2628	86409											
CYP4F3	4051	broad.mit.edu	37	chr19	15752234	15752234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcaggatgccacaGctgagcctgtcctcgctggg	13	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15752234G>A	uc002nbj.2	+	2	59	c.9G>A	c.(7-9)CAG>CAA	p.Q3Q	CYP4F3_uc010xok.1_Silent_p.Q3Q|CYP4F3_uc010xol.1_Silent_p.Q3Q|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Silent_p.Q3Q	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	3					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			ovary(3)	3						GGATGCCACAGCTGAGCCTGT	0.682													A	15752234	G	A	15752234	2	1	158	1	0	0	0	0	0	0	0	1	4190	962	34	2		2	CYP4F3	19	15752234	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	171512	15752234	43376749	2629	86410											
OR10H3	26532	broad.mit.edu	37	chr19	15852474	15852474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgctcttcacccatcGttccatcacctttgtggctt	6	14	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15852474G>A	uc010xoq.1	+	1	272	c.272G>A	c.(271-273)CGT>CAT	p.R91H		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCACCCATCGTTCCATCACC	0.498													A	15852474	G	A	15852474	3	1	158	1	0	0	0	0	1	0	0	0	10907	1145	40	1	274	1	OR10H3	19	15852474	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	100240	15852474	43276509	2630	86411											
AP1M1	8907	broad.mit.edu	37	chr19	16314384	16314384	+	Frame_Shift_Del	DEL	G	G	-													tgtcgcccatcctggcccacGggggggtccgtttcatgtgg					rs146546344	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16314383_16314383CG>C	uc002ndv.2	+	1	329	c.156_156CG>C	c.(154-156)cacfs	p.H52fs	AP1M1_uc002ndu.2_Frame_Shift_Del_p.H52fs|AP1M1_uc010xpd.1_Frame_Shift_Del_p.H52fs	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	52					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCC	0.592													-	16314384	G	-	16314384	7	5	158	1	0	1	0	1	0	0	0	0	734	1116	39	0	163	0	AP1M1	19	16314384	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	461910	16314384	42814599	2631	86412											
MED26	9441	broad.mit.edu	37	chr19	16689204	16689204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgacttccagcaccGccaccatgttccggatctgt	10	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16689204G>A	uc002nen.1	-	2	350	c.89C>T	c.(88-90)GCG>GTG	p.A30V	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	30	TFIIS N-terminal.				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			ovary(2)	2						TTCCAGCACCGCCACCATGTT	0.557													A	16689204	G	A	16689204	3	1	158	1	0	0	0	0	1	0	0	0	9444	1087	38	1	1721	1	MED26	19	16689204	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	374820	16689204	42439779	2632	86413											
NWD1	284434	broad.mit.edu	37	chr19	16860051	16860051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacctccacaaacacatcCttgaagactgcgcccttagg	7	14	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16860051C>A	uc002neu.3	+	6	1020	c.598C>A	c.(598-600)CTT>ATT	p.L200I	NWD1_uc002net.3_Missense_Mutation_p.L65I|NWD1_uc002nev.3_5'UTR			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	200							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CAAACACATCCTTGAAGACTG	0.572													A	16860051	C	A	16860051	3	1	158	1	0	0	0	0	1	0	0	0	10781	681	24	5	199	5	NWD1	19	16860051	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	170847	16860051	42268932	2633	86414											
SIN3B	23309	broad.mit.edu	37	chr19	16980660	16980660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgccgcccccagccccGcacaagcccctggacgatgt	9	22	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16980660G>A	uc002ney.1	+	14	2306	c.2292G>A	c.(2290-2292)CCG>CCA	p.P764P	SIN3B_uc002nez.1_Silent_p.P732P|SIN3B_uc010xpi.1_Silent_p.P322P	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	764					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CCCCAGCCCCGCACAAGCCCC	0.647													A	16980660	G	A	16980660	2	1	158	1	0	0	0	0	0	0	0	1	14326	1074	38	1		1	SIN3B	19	16980660	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	120609	16980660	42148323	2634	86415											
F2RL3	9002	broad.mit.edu	37	chr19	17000890	17000890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttggctcatggcggccGccctggcactgcccctgaca	12	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:17000890G>A	uc002nfa.2	+	2	791	c.616G>A	c.(616-618)GCC>ACC	p.A206T		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	206	Helical; Name=4; (Potential).				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				0						CATGGCGGCCGCCCTGGCACT	0.736													A	17000890	G	A	17000890	3	1	158	1	0	0	0	0	1	0	0	0	5346	1087	38	1	622	1	F2RL3	19	17000890	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	20230	17000890	42128093	2635	86416											
ARRDC2	27106	broad.mit.edu	37	chr19	18120690	18120690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagacgttcatggcccgaGgcgcccgaaagcagaaacgg	13	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:18120690G>T	uc002nhv.2	+	5	834	c.691G>T	c.(691-693)GGC>TGC	p.G231C	ARRDC2_uc002nhu.2_Missense_Mutation_p.G226C	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	231										pancreas(1)	1						CATGGCCCGAGGCGCCCGAAA	0.701													T	18120690	G	T	18120690	3	4	158	1	0	0	0	0	1	0	0	0	983	1000	35	5	972	5	ARRDC2	19	18120690	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1119800	18120690	41008293	2636	86417											
PIK3R2	5296	broad.mit.edu	37	chr19	18280056	18280056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcaccgtcaccctggcGcacccagtgcgcgccccggg	13	20	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:18280056G>A	uc002nia.1	+	16	2651	c.2139G>A	c.(2137-2139)GCG>GCA	p.A713A	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	713	SH2 2.				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			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						TCACCCTGGCGCACCCAGTgc	0.567													A	18280056	G	A	18280056	2	1	158	1	0	0	0	0	0	0	0	1	11919	1074	38	1		1	PIK3R2	19	18280056	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	159366	18280056	40848927	2637	86418											
ISYNA1	51477	broad.mit.edu	37	chr19	18547246	18547246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgactttgtccagccccGcgctagaccggaagtctcgg	11	14	1	2	rs138096546		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:18547246G>A	uc002njd.1	-	6	703	c.653C>T	c.(652-654)GCG>GTG	p.A218V	ISYNA1_uc002nja.1_Missense_Mutation_p.A90V|ISYNA1_uc002njb.1_Missense_Mutation_p.A136V|ISYNA1_uc002njc.1_Missense_Mutation_p.A68V|ISYNA1_uc010xqh.1_Missense_Mutation_p.A16V|ISYNA1_uc002nje.1_Missense_Mutation_p.A164V|ISYNA1_uc002njf.1_Missense_Mutation_p.A68V	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	218					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						GTCCAGCCCCGCGCTAGACCG	0.607													A	18547246	G	A	18547246	3	1	158	1	0	0	0	0	1	0	0	0	7867	1087	38	1	1047	1	ISYNA1	19	18547246	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	267190	18547246	40581737	2638	86419											
NCAN	1463	broad.mit.edu	37	chr19	19349146	19349146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagggcatgggaagatgCcgagaaggactgccgccgcc	17	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19349146C>T	uc002nlz.2	+	11	3434	c.3335C>T	c.(3334-3336)GCC>GTC	p.A1112V	NCAN_uc010ecc.1_Missense_Mutation_p.A676V|NCAN_uc002nma.2_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1112	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TGGGAAGATGCCGAGAAGGAC	0.632													T	19349146	C	T	19349146	3	4	158	1	0	0	0	0	1	0	0	0	10204	739	26	2	3373	2	NCAN	19	19349146	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	801900	19349146	39779837	2639	86420											
TM6SF2	53345	broad.mit.edu	37	chr19	19379477	19379477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttagcgcccggggctggcTgaagaccttcatgccagccc	14	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19379477T>C	uc002nmd.1	-	6	621	c.571A>G	c.(571-573)AGC>GGC	p.S191G	HAPLN4_uc002nmc.2_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	191						integral to membrane					0			Epithelial(12;0.0151)			CGGGGCTGGCTGAAGACCTTC	0.597													C	19379477	T	C	19379477	3	2	158	1	0	0	0	0	1	0	0	0	15970	1580	55	3	582	3	TM6SF2	19	19379477	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	30331	19379477	39749506	2640	86421											
GATAD2A	54815	broad.mit.edu	37	chr19	19612199	19612199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaggccgagcccaccGctgccccacaccccgtgctg	11	20	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19612199G>A	uc010xqt.1	+	9	1786	c.1474G>A	c.(1474-1476)GCT>ACT	p.A492T	GATAD2A_uc010xqu.1_Missense_Mutation_p.A121T|GATAD2A_uc010xqv.1_Missense_Mutation_p.A512T|GATAD2A_uc010xqw.1_Missense_Mutation_p.A320T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	492					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGAGCCCACCGCTGCCCCACA	0.701													A	19612199	G	A	19612199	3	1	158	1	0	0	0	0	1	0	0	0	6260	1087	38	1	1504	1	GATAD2A	19	19612199	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	232722	19612199	39516784	2641	86422											
TSSK6	83983	broad.mit.edu	37	chr19	19625898	19625898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctgcgcaaagaggtcGcgcgcctgaactccggggat	15	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19625898G>A	uc002nmr.2	-	1	572	c.339C>T	c.(337-339)CGC>CGT	p.R113R	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	113	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						CAAAGAGGTCGCGCGCCTGAA	0.657													A	19625898	G	A	19625898	2	1	158	1	0	0	0	0	0	0	0	1	16669	1074	38	1		1	TSSK6	19	19625898	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	13699	19625898	39503085	2642	86423											
CILP2	148113	broad.mit.edu	37	chr19	19652013	19652013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggatgcgtgtcccgggCgtcctctggaggcgcagaag	18	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19652013C>T	uc002nmv.3	+	4	635	c.550C>T	c.(550-552)CGT>TGT	p.R184C	CILP2_uc002nmw.3_Missense_Mutation_p.R190C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	184	TSP type-1.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GTGTCCCGGGCGTCCTCTGGA	0.731													T	19652013	C	T	19652013	3	4	158	1	0	0	0	0	1	0	0	0	3430	768	27	1	564	1	CILP2	19	19652013	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	26115	19652013	39476970	2643	86424											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					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)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	158	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	2340074	21992087	37136896	2644	86425											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002027	+	Splice_Site	DEL	AA	AA	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:22002025_22002026TAA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(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)		CAATGGTCCCTAAAAAAAACAA	0.386													-	22002027	AA	-	22002026	8	5	158	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	AA	TCGA-CD-A4MG-01A-11D-A25D-08	9939	22002026	37126957	2645	86426											
ZNF208	7757	broad.mit.edu	37	chr19	22154770	22154770	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgtctctccagtgtgAattttcttatgttccataag	9	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:22154770A>C	uc002nqp.2	-	6	2831	c.2682T>G	c.(2680-2682)ATT>ATG	p.I894M	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTGTGAATTTTCTTAT	0.408													C	22154770	A	C	22154770	3	2	158	1	0	0	0	0	1	0	0	0	17763	242	9	5	780	5	ZNF208	19	22154770	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	152744	22154770	36974213	2646	86427											
ZNF208	7757	broad.mit.edu	37	chr19	22155401	22155401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaccttactaaaggttTtgccacattcttcacatttg	6	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:22155401T>G	uc002nqp.2	-	5	2284	c.2135A>C	c.(2134-2136)AAA>ACA	p.K712T	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.373													G	22155401	T	G	22155401	3	3	158	1	0	0	0	0	1	0	0	0	17763	1841	64	5	1411	5	ZNF208	19	22155401	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	631	22155401	36973582	2647	86428											
ZNF536	9745	broad.mit.edu	37	chr19	30935465	30935465	+	Frame_Shift_Del	DEL	G	G	-													gccgagtcggcccagggccaGggccccaacggcggtggcga							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:30935464_30935464AG>A	uc002nsu.1	+	1	1133	c.995_995AG>A	c.(994-996)cagfs	p.Q332fs	ZNF536_uc010edd.1_Frame_Shift_Del_p.Q332fs	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	332					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)					GCCCAGGGCCAGGGCCCCAAC	0.662													-	30935465	G	-	30935465	7	5	158	1	0	1	0	1	0	0	0	0	17971	991	35	0	998	0	ZNF536	19	30935465	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	8780064	30935465	28193518	2648	86429											
ZNF536	9745	broad.mit.edu	37	chr19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggagaagcgggagtacGtgttagtgggagcagatggc	18	4	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:30936168G>A	uc002nsu.1	+	2	1837	c.1699G>A	c.(1699-1701)GTG>ATG	p.V567M	ZNF536_uc010edd.1_Missense_Mutation_p.V567M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCGGGAGTACGTGTTAGTGGG	0.532													A	30936168	G	A	30936168	3	1	158	1	0	0	0	0	1	0	0	0	17971	1145	40	1	1701	1	ZNF536	19	30936168	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	703	30936168	28192815	2649	86430											
TSHZ3	57616	broad.mit.edu	37	chr19	31769062	31769062	+	Frame_Shift_Del	DEL	C	C	-													cggcatggatgctgggatagCccccccagctaggagtgccg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:31769061_31769061GC>G	uc002nsy.4	-	1	1703	c.1638_1638GC>C	c.(1636-1638)ggcfs	p.G546fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	546					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)					TGCTGGGATAGCCCCCCCAGC	0.557													-	31769062	C	-	31769062	7	5	158	1	0	1	0	1	0	0	0	0	16622	739	26	0	1612	0	TSHZ3	19	31769062	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	832894	31769062	27359921	2650	86431											
ANKRD27	84079	broad.mit.edu	37	chr19	33089060	33089060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcattcctgttaggaccgGgaagcactaacctcttgggg	11	12	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:33089060G>A	uc002ntn.1	-	29	3300	c.3144C>T	c.(3142-3144)TCC>TCT	p.S1048S		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1048					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GTTAGGACCGGGAAGCACTAA	0.562													A	33089060	G	A	33089060	2	1	158	1	0	0	0	0	0	0	0	1	655	1219	43	4		4	ANKRD27	19	33089060	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1319998	33089060	26039923	2651	86432											
LRP3	4037	broad.mit.edu	37	chr19	33697631	33697631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactttcctgtctacagtGcgtcccaggtgagcccccgg	12	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:33697631G>A	uc010edh.2	+	6	1810	c.1717G>A	c.(1717-1719)GCG>ACG	p.A573T	LRP3_uc010xrp.1_3'UTR|LRP3_uc002nuk.3_Missense_Mutation_p.A447T	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	573	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					TGTCTACAGTGCGTCCCAGGT	0.677													A	33697631	G	A	33697631	3	1	158	1	0	0	0	0	1	0	0	0	8958	1319	46	2	1739	2	LRP3	19	33697631	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	608571	33697631	25431352	2652	86433											
KIAA0355	9710	broad.mit.edu	37	chr19	34830835	34830835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttgatcctgagaagacCctgggtctagtggacgtgct	13	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:34830835C>T	uc002nvd.3	+	9	2284	c.1425C>T	c.(1423-1425)ACC>ACT	p.T475T		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	475										ovary(1)	1	Esophageal squamous(110;0.162)					CTGAGAAGACCCTGGGTCTAG	0.537													T	34830835	C	T	34830835	2	4	158	1	0	0	0	0	0	0	0	1	8170	610	22	4		4	KIAA0355	19	34830835	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1133204	34830835	24298148	2653	86434											
UBA2	10054	broad.mit.edu	37	chr19	34929578	34929578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagtgttatgagtgtcatcCtaagccgacccagagaacct	10	11	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:34929578C>A	uc002nvk.2	+	6	558	c.488C>A	c.(487-489)CCT>CAT	p.P163H	UBA2_uc010xrx.1_Missense_Mutation_p.P36H|UBA2_uc002nvl.2_Missense_Mutation_p.P67H	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	163					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGTGTCATCCTAAGCCGACC	0.403													A	34929578	C	A	34929578	3	1	158	1	0	0	0	0	1	0	0	0	16825	681	24	5	510	5	UBA2	19	34929578	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	98743	34929578	24199405	2654	86435											
GRAMD1A	57655	broad.mit.edu	37	chr19	35504472	35504472	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaagtgggagatgtgatCgccctgagcgacatcacctc	13	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:35504472C>T	uc010xse.1	+	9	884	c.747C>T	c.(745-747)ATC>ATT	p.I249I	GRAMD1A_uc002nxi.1_Silent_p.I336I|GRAMD1A_uc002nxk.2_Silent_p.I242I|GRAMD1A_uc002nxl.2_Silent_p.I15I|GRAMD1A_uc010xsf.1_Silent_p.I254I|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	249						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGATGTGATCGCCCTGAGCG	0.637													T	35504472	C	T	35504472	2	4	158	1	0	0	0	0	0	0	0	1	6747	874	31	1		1	GRAMD1A	19	35504472	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	574894	35504472	23624511	2655	86436											
SCN1B	6324	broad.mit.edu	37	chr19	35524610	35524610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagcacaacaccagcgtcGtcaagaagatccacattgag	9	12	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:35524610G>A	uc002nxp.2	+	3	606	c.415G>A	c.(415-417)GTC>ATC	p.V139I	SCN1B_uc002nxo.1_Missense_Mutation_p.V139I|SCN1B_uc010xsg.1_Intron	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	139	Extracellular (Potential).|Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCAGCGTCGTCAAGAAGAT	0.552													A	35524610	G	A	35524610	3	1	158	1	0	0	0	0	1	0	0	0	13915	1145	40	1	425	1	SCN1B	19	35524610	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	20138	35524610	23604373	2656	86437											
FAM187B	148109	broad.mit.edu	37	chr19	35716084	35716084	+	Frame_Shift_Del	DEL	G	G	-													gagctggctctcccacgtcaGgggggtgtcgttggcacgcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:35716084delG	uc002nyk.1	-	2	799	c.754delC	c.(754-756)CTGfs	p.L252fs		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	252	Extracellular (Potential).					integral to membrane				ovary(2)	2						TCCCACGTCAGGGGGGTGTCG	0.657													-	35716084	G	-	35716084	7	5	158	1	0	1	0	1	0	0	0	0	5513	991	35	0	359	0	FAM187B	19	35716084	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	191474	35716084	23412899	2657	86438											
DMKN	93099	broad.mit.edu	37	chr19	36003673	36003673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgagagccaaagatgCcatggcctccagaagtttcc	9	13	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36003673C>T	uc002nzm.3	-	2	629	c.446G>A	c.(445-447)GGC>GAC	p.G149D	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.G149D|DMKN_uc002nzn.3_Missense_Mutation_p.G149D|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.G149D|DMKN_uc010eeb.2_Missense_Mutation_p.G149D|DMKN_uc002oaa.3_Missense_Mutation_p.G149D|DMKN_uc002oab.3_Missense_Mutation_p.G149D	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	149	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	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)			GCCAAAGATGCCATGGCCTCC	0.572													T	36003673	C	T	36003673	3	4	158	1	0	0	0	0	1	0	0	0	4582	739	26	2	1361	2	DMKN	19	36003673	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	287589	36003673	23125310	2658	86439											
ATP4A	495	broad.mit.edu	37	chr19	36047927	36047927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctagatggaaagttcatgGcctctacgtcgaaggcatag	12	9	2	1	rs61742920		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36047927G>A	uc002oal.1	-	12	1786	c.1757C>T	c.(1756-1758)GCC>GTC	p.A586V	ATP4A_uc010eee.1_Intron	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	586	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	AAAGTTCATGGCCTCTACGTC	0.592													A	36047927	G	A	36047927	3	1	158	1	0	0	0	0	1	0	0	0	1145	1203	42	2	1394	2	ATP4A	19	36047927	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	44254	36047927	23081056	2659	86440											
HAUS5	23354	broad.mit.edu	37	chr19	36113615	36113615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcgaatccctgagctGcaggggatcgtgggggactg	18	9	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36113615G>A	uc002oam.1	+	18	1815	c.1764G>A	c.(1762-1764)CTG>CTA	p.L588L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	588	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						TCCCTGAGCTGCAGGGGATCG	0.582													A	36113615	G	A	36113615	2	1	158	1	0	0	0	0	0	0	0	1	6969	1306	46	2		2	HAUS5	19	36113615	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	65688	36113615	23015368	2660	86441											
MLL4	9757	broad.mit.edu	37	chr19	36216189	36216189	+	Frame_Shift_Del	DEL	C	C	-													ctcacctctgtgccagggggCcccccgatggtgtgcttgct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36216189delC	uc010eei.2	+	12	3597	c.3597delC	c.(3595-3597)GGCfs	p.G1199fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1199					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCAGGGGGCCCCCCGATGG	0.602													-	36216189	C	-	36216189	7	5	158	1	0	1	0	1	0	0	0	0	9623	726	26	0	3639	0	MLL4	19	36216189	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	102574	36216189	22912794	2661	86442											
MLL4	9757	broad.mit.edu	37	chr19	36221296	36221296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccgagtctatgtggacttCgagggcatcaacttcaagcg	12	11	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36221296C>T	uc010eei.2	+	25	5130	c.5130C>T	c.(5128-5130)TTC>TTT	p.F1710F		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1710					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGTGGACTTCGAGGGCATCA	0.562													T	36221296	C	T	36221296	2	4	158	1	0	0	0	0	0	0	0	1	9623	883	31	1		1	MLL4	19	36221296	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5107	36221296	22907687	2662	86443											
PRODH2	58510	broad.mit.edu	37	chr19	36303305	36303305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcagtgggcactgCcagcagtggtcggaggctga	14	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36303305C>T	uc002obx.1	-	3	574	c.556G>A	c.(556-558)GCA>ACA	p.A186T		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	186					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGGCACTGCCAGCAGTGGT	0.657													T	36303305	C	T	36303305	3	4	158	1	0	0	0	0	1	0	0	0	12549	739	26	2	1090	2	PRODH2	19	36303305	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	82009	36303305	22825678	2663	86444											
KIRREL2	84063	broad.mit.edu	37	chr19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-													aacccacacctgggcatggtCcccccctgcagactttacag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627													-	36357214	C	-	36357214	7	5	158	1	0	1	0	1	0	0	0	0	8325	842	30	0	2005	0	KIRREL2	19	36357214	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	53909	36357214	22771769	2664	86445											
LRFN3	79414	broad.mit.edu	37	chr19	36431360	36431360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaactcaagccgtgcccgcGccttccccaatgggacgctg	11	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36431360G>A	uc002oco.2	+	2	1485	c.1033G>A	c.(1033-1035)GCC>ACC	p.A345T		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	345	Extracellular (Potential).|Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			CCGTGCCCGCGCCTTCCCCAA	0.701													A	36431360	G	A	36431360	3	1	158	1	0	0	0	0	1	0	0	0	8939	1087	38	1	1035	1	LRFN3	19	36431360	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	74146	36431360	22697623	2665	86446											
WDR62	284403	broad.mit.edu	37	chr19	36564323	36564323	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accccatccaccagtggctgTcctgcgtgtataaggaccac	9	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36564323T>A	uc002odc.2	+	9	1214	c.1123T>A	c.(1123-1125)TCC>ACC	p.S375T	WDR62_uc002odd.2_Missense_Mutation_p.S375T|WDR62_uc002odb.2_Missense_Mutation_p.S375T	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	375	WD 5.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGTGGCTGTCCTGCGTGTA	0.537													A	36564323	T	A	36564323	3	1	158	1	0	0	0	0	1	0	0	0	17310	1667	58	5	1157	5	WDR62	19	36564323	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	132963	36564323	22564660	2666	86447											
WDR62	284403	broad.mit.edu	37	chr19	36595902	36595902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagctgctggtgcaggCcgtgcggaggaaggcacggg	20	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36595902C>T	uc002odc.2	+	32	4620	c.4529C>T	c.(4528-4530)GCC>GTC	p.A1510V	WDR62_uc002odd.2_Missense_Mutation_p.A1515V	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1510					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGTGCAGGCCGTGCGGAGG	0.657													T	36595902	C	T	36595902	3	4	158	1	0	0	0	0	1	0	0	0	17310	739	26	2	4670	2	WDR62	19	36595902	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	31579	36595902	22533081	2667	86448											
ZNF585B	92285	broad.mit.edu	37	chr19	37677527	37677527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggaaatgaaggatttGccacagttattgcattcata	9	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:37677527G>A	uc002ofq.2	-	5	1166	c.912C>T	c.(910-912)GGC>GGT	p.G304G	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.G118G	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	304	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAAGGATTTGCCACAGTTAT	0.408													A	37677527	G	A	37677527	2	1	158	1	0	0	0	0	0	0	0	1	18015	1306	46	2		2	ZNF585B	19	37677527	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1081625	37677527	21451456	2668	86449											
ZNF540	163255	broad.mit.edu	37	chr19	38104037	38104037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaggcctttagacttaAttcacaccttactgaacatc	7	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38104037A>C	uc002ogq.2	+	5	2188	c.1856A>C	c.(1855-1857)AAT>ACT	p.N619T	ZNF540_uc002ogu.2_Missense_Mutation_p.N619T|ZNF540_uc010efq.2_Missense_Mutation_p.N587T	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	619	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGACTTAATTCACACCTT	0.378													C	38104037	A	C	38104037	3	2	158	1	0	0	0	0	1	0	0	0	17972	101	4	5	1870	5	ZNF540	19	38104037	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	426510	38104037	21024946	2669	86450											
DPF1	8193	broad.mit.edu	37	chr19	38704344	38704344	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgcactgccagcggtaGgtccgcacggctgccgtcat	13	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38704344G>T	uc002ohl.2	-	9	927	c.900C>A	c.(898-900)ACC>ACA	p.T300T	DPF1_uc002ohm.2_Silent_p.T344T|DPF1_uc002ohn.2_Silent_p.T262T|DPF1_uc010xtu.1_Silent_p.T318T|DPF1_uc010xtv.1_Silent_p.T318T	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	300	PHD-type 1.				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCAGCGGTAGGTCCGCACGG	0.672													T	38704344	G	T	38704344	2	4	158	1	0	0	0	0	0	0	0	1	4716	987	35	5		5	DPF1	19	38704344	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	600307	38704344	20424639	2670	86451											
PPP1R14A	94274	broad.mit.edu	37	chr19	38742041	38742041	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggcggaggccgggctGcctgtggaggccttgaagct	19	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38742041G>A	uc002ohq.2	-	4	554	c.361C>T	c.(361-363)CAG>TAG	p.Q121*	PPP1R14A_uc010efv.2_Nonsense_Mutation_p.Q94*	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	121					regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGCCGGGCTGCCTGTGGAGG	0.682													A	38742041	G	A	38742041	4	1	158	1	0	0	0	0	0	1	0	0	12359	1328	46	2	86	2	PPP1R14A	19	38742041	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	37697	38742041	20386942	2671	86452											
GGN	199720	broad.mit.edu	37	chr19	38876775	38876775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggccgcacgccgtcgcGgcgccccgatgcctccgcca	14	20	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38876775G>A	uc002oij.1	-	3	1262	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P293L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	376	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACGCCGTCGCGGCGCCCCGAT	0.711													A	38876775	G	A	38876775	3	1	158	1	0	0	0	0	1	0	0	0	6358	1116	39	1	839	1	GGN	19	38876775	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	134734	38876775	20252208	2672	86453											
SPRED3	399473	broad.mit.edu	37	chr19	38882863	38882863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccaggctcactcaccCcctcctcctcctcctcctcc	3	26	2	0	rs151129136	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38882863C>T	uc002oim.2	+	3	362	c.358C>T	c.(358-360)CCC>TCC	p.P120S	SPRED3_uc002oil.1_Missense_Mutation_p.P120S	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCACTCAccccctcctcctc	0.542													T	38882863	C	T	38882863	3	4	158	1	0	0	0	0	1	0	0	0	15093	623	22	4	368	4	SPRED3	19	38882863	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6088	38882863	20246120	2673	86454											
RYR1	6261	broad.mit.edu	37	chr19	38959605	38959605	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctctggctgtcctcacaGggccagcgctggcacttggg	13	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38959605G>T	uc002oit.2	+	26	3512	c.3382_splice	c.e26-1	p.G1128_splice	RYR1_uc002oiu.2_Splice_Site_p.G1128_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1						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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCCTCACAGGGCCAGCGCT	0.542													T	38959605	G	T	38959605	5	4	158	1	0	0	0	0	0	0	1	0	13768	1014	35	5	3483	5	RYR1	19	38959605	Splice_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	76742	38959605	20169378	2674	86455											
RYR1	6261	broad.mit.edu	37	chr19	38985019	38985021	+	In_Frame_Del	DEL	TGG	TGG	-													gcaggagctggtgtcccacaTggtggtgcgctgggcccaag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38985018_38985020ATGG>A	uc002oit.3	+	38	6431_6433	c.6301_6303ATGG>A	c.(6301-6303)atg>A	p.M2101del	RYR1_uc002oiu.3_In_Frame_Del_p.M2101del|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2101	6 X approximate repeats.		M -> K.		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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.H2100Y(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)	GGTGTCCCACATGGTGGTGCGCT	0.65													-	38985021	TGG	-	38985019	7	5	158	1	0	1	0	1	0	0	0	0	13768	1464	51	0	6456	0	RYR1	19	38985019	In_Frame_Del	DEL	TGG	TCGA-CD-A4MG-01A-11D-A25D-08	25414	38985019	20143964	2675	86456											
RYR1	6261	broad.mit.edu	37	chr19	38985048	38985048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcccaagaggacttcGtgcagagccccgagctggtg	16	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38985048G>A	uc002oit.2	+	39	6461	c.6331G>A	c.(6331-6333)GTG>ATG	p.V2111M	RYR1_uc002oiu.2_Missense_Mutation_p.V2111M|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2111	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGGACTTCGTGCAGAGCCC	0.667													A	38985048	G	A	38985048	3	1	158	1	0	0	0	0	1	0	0	0	13768	1145	40	1	6485	1	RYR1	19	38985048	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	29	38985048	20143935	2676	86457											
RYR1	6261	broad.mit.edu	37	chr19	38987086	38987086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgacaagctgctgccGcttcctctgctatttctgcc	10	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38987086G>A	uc002oit.2	+	41	6831	c.6701G>A	c.(6700-6702)CGC>CAC	p.R2234H	RYR1_uc002oiu.2_Missense_Mutation_p.R2234H|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2234	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCTGCTGCCGCTTCCTCTGC	0.627													A	38987086	G	A	38987086	3	1	158	1	0	0	0	0	1	0	0	0	13768	1087	38	1	6863	1	RYR1	19	38987086	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2038	38987086	20141897	2677	86458											
CAPN12	147968	broad.mit.edu	37	chr19	39230725	39230725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgagggactccttggccAgggcatggcgcagggcagag	17	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39230725A>C	uc002ojd.1	-	5	1004	c.695T>G	c.(694-696)CTG>CGG	p.L232R		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	232	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCCTTGGCCAGGGCATGGCG	0.617													C	39230725	A	C	39230725	3	2	158	1	0	0	0	0	1	0	0	0	2625	188	7	5	1532	5	CAPN12	19	39230725	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	243639	39230725	19898258	2678	86459											
LGALS4	3960	broad.mit.edu	37	chr19	39303125	39303125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacagacattcccacgttgAgcccgcccgggatgggctgg	13	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39303125A>G	uc002ojg.2	-	2	294	c.80T>C	c.(79-81)CTC>CCC	p.L27P	LGALS4_uc010xuj.1_Missense_Mutation_p.L27P	NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	27	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCCACGTTGAGCCCGCCCGG	0.617													G	39303125	A	G	39303125	3	3	158	1	0	0	0	0	1	0	0	0	8745	304	11	3	927	3	LGALS4	19	39303125	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	72400	39303125	19825858	2679	86460											
RINL	126432	broad.mit.edu	37	chr19	39359891	39359891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagatgggcagtcacctggGctctgggatgatcctttctg	13	11	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39359891G>T	uc002ojq.2	-	11	1680	c.1292C>A	c.(1291-1293)GCC>GAC	p.A431D	RINL_uc002ojr.1_Missense_Mutation_p.A66D|RINL_uc010xuo.1_Missense_Mutation_p.A545D	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	431							GTPase activator activity			pancreas(1)	1						AGTCACCTGGGCTCTGGGATG	0.662													T	39359891	G	T	39359891	3	4	158	1	0	0	0	0	1	0	0	0	13375	1203	42	5	74	5	RINL	19	39359891	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	56766	39359891	19769092	2680	86461											
SIRT2	22933	broad.mit.edu	37	chr19	39374291	39374291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccagcttagcgggtattCgtgccggcagctggcgctga	14	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39374291C>T	uc002ojt.1	-	9	807	c.607G>A	c.(607-609)GAA>AAA	p.E203K	SIRT2_uc010egh.1_Missense_Mutation_p.E166K|SIRT2_uc010egi.1_Missense_Mutation_p.E166K|SIRT2_uc002ojs.1_Missense_Mutation_p.E183K|SIRT2_uc002oju.1_Missense_Mutation_p.E166K|SIRT2_uc010egj.1_Missense_Mutation_p.E166K|SIRT2_uc002ojv.1_Missense_Mutation_p.E201K	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	203	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			AGCGGGTATTCGTGCCGGCAG	0.617													T	39374291	C	T	39374291	3	4	158	1	0	0	0	0	1	0	0	0	14338	893	31	1	594	1	SIRT2	19	39374291	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	14400	39374291	19754692	2681	86462											
SIRT2	22933	broad.mit.edu	37	chr19	39380364	39380364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagagttccttggcgagggCgaagaagggttccggatgtt	16	6	0	2	rs150309258	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39380364C>T	uc002ojt.1	-	7	597	c.397G>A	c.(397-399)GCC>ACC	p.A133T	SIRT2_uc010egh.1_Missense_Mutation_p.A96T|SIRT2_uc010egi.1_Missense_Mutation_p.A96T|SIRT2_uc002ojs.1_Missense_Mutation_p.A113T|SIRT2_uc002oju.1_Missense_Mutation_p.A96T|SIRT2_uc010egj.1_Missense_Mutation_p.A96T|SIRT2_uc002ojv.1_Missense_Mutation_p.A131T	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	133	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TTGGCGAGGGCGAAGAAGGGT	0.602													T	39380364	C	T	39380364	3	4	158	1	0	0	0	0	1	0	0	0	14338	768	27	1	812	1	SIRT2	19	39380364	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6073	39380364	19748619	2682	86463											
SAMD4B	55095	broad.mit.edu	37	chr19	39860748	39860748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagccatcaacagtattgGgagcaatgcaaacacaggta	10	10	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39860748G>T	uc002olb.2	+	6	1685	c.650G>T	c.(649-651)GGG>GTG	p.G217V	SAMD4B_uc002ola.2_Missense_Mutation_p.G217V	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	217							protein binding				0	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)			AACAGTATTGGGAGCAATGCA	0.597													T	39860748	G	T	39860748	3	4	158	1	0	0	0	0	1	0	0	0	13822	1232	43	5	656	5	SAMD4B	19	39860748	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	480384	39860748	19268235	2683	86464											
SAMD4B	55095	broad.mit.edu	37	chr19	39871333	39871333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgggccctcccacccGgccggatgggcctcctgagc	12	21	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39871333G>A	uc002olb.2	+	13	2791	c.1756G>A	c.(1756-1758)GGC>AGC	p.G586S	SAMD4B_uc002ola.2_Missense_Mutation_p.G586S	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	586							protein binding				0	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)			CCTCCCACCCGGCCGGATGGG	0.697													A	39871333	G	A	39871333	3	1	158	1	0	0	0	0	1	0	0	0	13822	1116	39	1	1790	1	SAMD4B	19	39871333	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	10585	39871333	19257650	2684	86465											
TIMM50	92609	broad.mit.edu	37	chr19	39978787	39978787	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcagccctataacggCgttgccctgcggccctggga	13	16	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39978787C>A	uc002olu.1	+	9	1225	c.1092C>A	c.(1090-1092)GGC>GGA	p.G364G	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_Silent_p.G63G	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	261	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	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)			CCTATAACGGCGTTGCCCTGC	0.562													A	39978787	C	A	39978787	2	1	158	1	0	0	0	0	0	0	0	1	15910	755	27	5		5	TIMM50	19	39978787	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	107454	39978787	19150196	2685	86466											
DLL3	10683	broad.mit.edu	37	chr19	39998572	39998572	+	Frame_Shift_Del	DEL	C	C	-													gaggtagcgacgccccttttCcccccgctacacactgggcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39998571_39998571TC>T	uc002olx.2	+	7	1833	c.1775_1775TC>T	c.(1774-1776)ttcfs	p.F592fs	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	592					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)			ACGCCCCTTTTCCCCCCGCTA	0.552													-	39998572	C	-	39998572	7	5	158	1	0	1	0	1	0	0	0	0	4567	854	30	0	1806	0	DLL3	19	39998572	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	19785	39998572	19130411	2686	86467											
DYRK1B	9149	broad.mit.edu	37	chr19	40317948	40317948	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagttctttcgtccttcGtagggtccagccacccccag	9	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:40317948G>A	uc002omj.2	-	8	1352	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*	DYRK1B_uc002omi.2_Nonsense_Mutation_p.R358*|DYRK1B_uc002omk.2_Nonsense_Mutation_p.R358*	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	358	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			TTCGTCCTTCGTAGGGTCCAG	0.602													A	40317948	G	A	40317948	4	1	158	1	0	0	0	0	0	1	0	0	4855	1153	40	1	833	1	DYRK1B	19	40317948	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	319376	40317948	18811035	2687	86468											
PSMC4	5704	broad.mit.edu	37	chr19	40478408	40478408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcatcccgctggtcatcGgacaatttctggaggctgtg	12	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:40478408G>A	uc002omq.2	+	3	305	c.268G>A	c.(268-270)GGA>AGA	p.G90R	PSMC4_uc002omr.2_Missense_Mutation_p.G59R	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	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|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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTGGTCATCGGACAATTTCT	0.478													A	40478408	G	A	40478408	3	1	158	1	0	0	0	0	1	0	0	0	12689	1117	39	1	278	1	PSMC4	19	40478408	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	160460	40478408	18650575	2688	86469											
PSMC4	5704	broad.mit.edu	37	chr19	40480240	40480240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgagcaccatcgatcGggagctgctcaagcccaacg	10	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:40480240G>A	uc002omq.2	+	4	399	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	PSMC4_uc002omr.2_Missense_Mutation_p.R90Q	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	121					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCATCGATCGGGAGCTGCTC	0.592													A	40480240	G	A	40480240	3	1	158	1	0	0	0	0	1	0	0	0	12689	1116	39	1	376	1	PSMC4	19	40480240	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1832	40480240	18648743	2689	86470											
SPTBN4	57731	broad.mit.edu	37	chr19	41078036	41078036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaccgctgctcagcctGcacaaggccaccagcgaggt	14	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:41078036G>A	uc002ony.2	+	34	7517	c.7431G>A	c.(7429-7431)CTG>CTA	p.L2477L	SPTBN4_uc002onz.2_Silent_p.L2477L|SPTBN4_uc010egx.2_Silent_p.L1220L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2477	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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTCAGCCTGCACAAGGCCA	0.597													A	41078036	G	A	41078036	2	1	158	1	0	0	0	0	0	0	0	1	15120	1306	46	2		2	SPTBN4	19	41078036	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	597796	41078036	18050947	2690	86471											
EGLN2	112398	broad.mit.edu	37	chr19	41306843	41306843	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccccaaacggaaatgggcCgaggatggtggggatgcccc	16	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:41306843C>A	uc010ehd.2	+	8	1367	c.366C>A	c.(364-366)GCC>GCA	p.A122A	EGLN2_uc002opg.3_Silent_p.A122A|EGLN2_uc002oph.2_Silent_p.A122A|EGLN2_uc002opi.2_Silent_p.A122A	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	122					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			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGAAATGGGCCGAGGATGGTG	0.682													A	41306843	C	A	41306843	2	1	158	1	0	0	0	0	0	0	0	1	4969	639	23	5		5	EGLN2	19	41306843	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	228807	41306843	17822140	2691	86472											
CYP2A7	1549	broad.mit.edu	37	chr19	41387591	41387591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctgacggcatcatgtccAcacagcaccacgacccgccg	8	19	1	1	rs146515750		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:41387591A>G	uc002opm.2	-	2	788	c.246T>C	c.(244-246)TGT>TGC	p.C82C	CYP2A7_uc002opo.2_Silent_p.C82C|CYP2A7_uc002opn.2_Intron	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	82						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CATCATGTCCACACAGCACCA	0.617													G	41387591	A	G	41387591	2	3	158	1	0	0	0	0	0	0	0	1	4163	157	6	3		3	CYP2A7	19	41387591	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	80748	41387591	17741392	2692	86473											
CEACAM3	1084	broad.mit.edu	37	chr19	42312872	42312872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatgccccaggccttcCtgtgggggccgtcgccggca	14	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42312872C>A	uc002orn.1	+	3	522	c.446C>A	c.(445-447)CCT>CAT	p.P149H	CEACAM3_uc010eia.1_Missense_Mutation_p.P149H|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	149	Extracellular (Potential).					integral to membrane				skin(1)	1						CCAGGCCTTCCTGTGGGGGCC	0.612													A	42312872	C	A	42312872	3	1	158	1	0	0	0	0	1	0	0	0	3193	681	24	5	456	5	CEACAM3	19	42312872	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	925281	42312872	16816111	2693	86474											
ATP1A3	478	broad.mit.edu	37	chr19	42471893	42471893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccgtctcctcaaacaGcccgaagatcaggatcttgt	10	13	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42471893G>A	uc002osg.2	-	21	2996	c.2842C>T	c.(2842-2844)CTG>TTG	p.L948L	ATP1A3_uc010xwf.1_Silent_p.L959L|ATP1A3_uc010xwg.1_Silent_p.L918L|ATP1A3_uc010xwh.1_Silent_p.L961L|ATP1A3_uc002osh.2_Silent_p.L948L	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	948	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TCCTCAAACAGCCCGAAGATC	0.667													A	42471893	G	A	42471893	2	1	158	1	0	0	0	0	0	0	0	1	1130	962	34	2		2	ATP1A3	19	42471893	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	159021	42471893	16657090	2694	86475											
ZNF574	64763	broad.mit.edu	37	chr19	42584754	42584754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcccaggccccacggCgctttgagtgtggcacctgt	13	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42584754C>T	uc002osm.3	+	2	2165	c.1996C>T	c.(1996-1998)CGC>TGC	p.R666C	ZNF574_uc002osk.3_Missense_Mutation_p.R756C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	666	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GGCCCCACGGCGCTTTGAGTG	0.706													T	42584754	C	T	42584754	3	4	158	1	0	0	0	0	1	0	0	0	18003	768	27	1	1998	1	ZNF574	19	42584754	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	112861	42584754	16544229	2695	86476											
ZNF574	64763	broad.mit.edu	37	chr19	42585195	42585195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatgcgcctggcagaacatCgccgcatccacacaggcgaa	10	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42585195C>T	uc002osm.3	+	2	2606	c.2437C>T	c.(2437-2439)CGC>TGC	p.R813C	ZNF574_uc002osk.3_Missense_Mutation_p.R903C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	813	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GGCAGAACATCGCCGCATCCA	0.612													T	42585195	C	T	42585195	3	4	158	1	0	0	0	0	1	0	0	0	18003	884	31	1	2439	1	ZNF574	19	42585195	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	441	42585195	16543788	2696	86477											
CIC	23152	broad.mit.edu	37	chr19	42799154	42799154	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactggcaccgctgctgcCcctgcccccactcccagccc	7	25	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42799154C>A	uc002otf.1	+	20	4678	c.4638C>A	c.(4636-4638)GCC>GCA	p.A1546A		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1546	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				ccgctgctgcccctgccccca	0.244			T	DUX4	soft tissue sarcoma								A	42799154	C	A	42799154	2	1	158	1	0	0	0	0	0	0	0	1	3424	610	22	5		5	CIC	19	42799154	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	213959	42799154	16329829	2697	86478											
TMEM145	284339	broad.mit.edu	37	chr19	42827893	42827894	+	Frame_Shift_Ins	INS	-	-	G													tgacgtttatcagcgactcgINSgtgcccaacttcacggagct					rs149140216		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42827892_42827893C>CG	uc002otk.1	+	13	1404_1405	c.1352_1353C>CG	c.(1351-1353)tcgfs	p.S451fs	MEGF8_uc002otl.4_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	451						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)				ATCAGCGACTCGGTGCCCAACT	0.678													G	42827894	-	G	42827893	7	5	158	1	0	1	1	0	0	0	0	0	16056	1103	39	0	1407	0	TMEM145	19	42827893	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	28739	42827893	16301090	2698	86479											
MEGF8	1954	broad.mit.edu	37	chr19	42855624	42855624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaactctagccagtgcGcctggtgccagtccacccac	10	17	1	0	rs143160271		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42855624G>A	uc002otl.3	+	16	3333	c.2698G>A	c.(2698-2700)GCC>ACC	p.A900T	MEGF8_uc002otm.3_Missense_Mutation_p.A508T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	967	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TAGCCAGTGCGCCTGGTGCCA	0.662													A	42855624	G	A	42855624	3	1	158	1	0	0	0	0	1	0	0	0	9463	1087	38	1	2760	1	MEGF8	19	42855624	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	27731	42855624	16273359	2699	86480											
LIPE	3991	broad.mit.edu	37	chr19	42907075	42907075	+	Frame_Shift_Del	DEL	T	T	-													tgtccgacgacgtctcggagTttcccctcaggctcaagtcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42907074_42907074GT>G	uc002otr.3	-	8	2929	c.2652_2652AC>C	c.(2650-2652)aacfs	p.N884fs	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	884					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.G883R(1)|p.N884fs*16(1)		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)				ACGTCTCGGAGTTTCCCCTCA	0.607													-	42907075	T	-	42907075	7	5	158	1	0	1	0	1	0	0	0	0	8821	1725	60	0	587	0	LIPE	19	42907075	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	51451	42907075	16221908	2700	86481											
CEACAM1	634	broad.mit.edu	37	chr19	43026264	43026264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacaggtaggttgtgtccTgagtctcaggttcacaggtg	13	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43026264T>C	uc002otv.2	-	3	628	c.515A>G	c.(514-516)CAG>CGG	p.Q172R	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.Q172R|CEACAM1_uc010eij.2_Missense_Mutation_p.Q172R|CEACAM1_uc002otx.2_Missense_Mutation_p.Q172R|CEACAM1_uc002oty.2_Missense_Mutation_p.Q172R|CEACAM1_uc002otz.2_Missense_Mutation_p.Q172R|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.Q172R|CEACAM1_uc002oub.2_Missense_Mutation_p.Q172R|CEACAM1_uc002ouc.2_Missense_Mutation_p.Q172R	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	172	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGTTGTGTCCTGAGTCTCAGG	0.562													C	43026264	T	C	43026264	3	2	158	1	0	0	0	0	1	0	0	0	3187	1580	55	3	1190	3	CEACAM1	19	43026264	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	119189	43026264	16102719	2701	86482											
CEACAM1	634	broad.mit.edu	37	chr19	43032516	43032516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgaagtggggctgagAggtgccccatggtgtctcct	15	10	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43032516A>C	uc002otv.2	-	1	124	c.11T>G	c.(10-12)CTC>CGC	p.L4R	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc002otw.2_Missense_Mutation_p.L4R|CEACAM1_uc010eij.2_Missense_Mutation_p.L4R|CEACAM1_uc002otx.2_Missense_Mutation_p.L4R|CEACAM1_uc002oty.2_Missense_Mutation_p.L4R|CEACAM1_uc002otz.2_Missense_Mutation_p.L4R|CEACAM1_uc010eik.2_Missense_Mutation_p.L4R|CEACAM1_uc002oua.2_Missense_Mutation_p.L4R|CEACAM1_uc002oub.2_Missense_Mutation_p.L4R|CEACAM1_uc002ouc.2_Missense_Mutation_p.L4R	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	4					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGGGGCTGAGAGGTGCCCCAT	0.637													C	43032516	A	C	43032516	3	2	158	1	0	0	0	0	1	0	0	0	3187	304	11	5	1702	5	CEACAM1	19	43032516	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	6252	43032516	16096467	2702	86483											
PSG3	5671	broad.mit.edu	37	chr19	43237119	43237119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaccacaggtagcttgCgtccggagtctcaggatcac	10	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43237119C>T	uc002oue.2	-	3	658	c.526G>A	c.(526-528)GCA>ACA	p.A176T	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.A198T	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	176	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				AGGTAGCTTGCGTCCGGAGTC	0.517													T	43237119	C	T	43237119	3	4	158	1	0	0	0	0	1	0	0	0	12656	768	27	1	776	1	PSG3	19	43237119	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	204603	43237119	15891864	2703	86484											
PSG1	5669	broad.mit.edu	37	chr19	43372430	43372430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggtgggttagagtccgCagaacaggacaagtagagga	16	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43372430C>T	uc002ovb.2	-	5	1204	c.1066G>A	c.(1066-1068)GCG>ACG	p.A356T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.A356T|PSG1_uc010eio.1_Missense_Mutation_p.A356T|PSG1_uc002oux.1_Missense_Mutation_p.A285T|PSG1_uc002ouy.1_Missense_Mutation_p.A263T|PSG1_uc002ouz.1_Missense_Mutation_p.A356T|PSG1_uc002ova.1_Missense_Mutation_p.A263T|PSG1_uc002ovc.2_Missense_Mutation_p.A263T|PSG1_uc002ovd.1_Missense_Mutation_p.A356T	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	356	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				TTAGAGTCCGCAGAACAGGAC	0.443													T	43372430	C	T	43372430	3	4	158	1	0	0	0	0	1	0	0	0	12653	710	25	2	254	2	PSG1	19	43372430	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	135311	43372430	15756553	2704	86485											
PSG1	5669	broad.mit.edu	37	chr19	43383721	43383721	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgcagggaggggctgAgagggttcccatggtctctg	18	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43383721A>T	uc002ovb.2	-	1	151	c.13T>A	c.(13-15)TCA>ACA	p.S5T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.S5T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.S5T|PSG1_uc010eio.1_Missense_Mutation_p.S5T|PSG1_uc002oux.1_5'Flank|PSG1_uc002ouy.1_Missense_Mutation_p.S5T|PSG1_uc002ouz.1_Missense_Mutation_p.S5T|PSG1_uc002ova.1_Missense_Mutation_p.S5T|PSG1_uc002ovc.2_Missense_Mutation_p.S5T|PSG1_uc002ovd.1_Missense_Mutation_p.S5T	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	5					female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GGAGGGGCTGAGAGGGTTCCC	0.567													T	43383721	A	T	43383721	3	4	158	1	0	0	0	0	1	0	0	0	12653	304	11	5	1323	5	PSG1	19	43383721	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	11291	43383721	15745262	2705	86486											
PSG5	5673	broad.mit.edu	37	chr19	43674287	43674287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgtcctattcctgaaGgagctgtcatggaaagaaaa	11	7	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43674287G>A	uc002ovu.2	-	5	1099	c.968C>T	c.(967-969)CCT>CTT	p.P323L	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.P198L|PSG5_uc002ovx.2_Missense_Mutation_p.P323L|PSG5_uc002ovv.2_Missense_Mutation_p.P416L|PSG5_uc002ovw.2_Missense_Mutation_p.P145L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	323					female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				TATTCCTGAAGGAGCTGTCAT	0.423													A	43674287	G	A	43674287	3	1	158	1	0	0	0	0	1	0	0	0	12658	1000	35	4	43	4	PSG5	19	43674287	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	290566	43674287	15454696	2706	86487											
CADM4	199731	broad.mit.edu	37	chr19	44131874	44131874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcatactggtgcagacGgcaggtgatctcagccaccc	10	15	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:44131874G>A	uc002oxc.1	-	2	182	c.133C>T	c.(133-135)CGT>TGT	p.R45C		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	45	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				TGGTGCAGACGGCAGGTGATC	0.567													A	44131874	G	A	44131874	3	1	158	1	0	0	0	0	1	0	0	0	2569	1116	39	1	1065	1	CADM4	19	44131874	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	457587	44131874	14997109	2707	86488											
ZNF283	284349	broad.mit.edu	37	chr19	44341288	44341288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcagagggacttgtaCgtggatgtaatgttggagaa	14	6	1	2	rs145411708	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:44341288C>T	uc002oxr.3	+	6	562	c.294C>T	c.(292-294)TAC>TAT	p.Y98Y	ZNF283_uc002oxp.3_Intron	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GGGACTTGTACGTGGATGTAA	0.468													T	44341288	C	T	44341288	2	4	158	1	0	0	0	0	0	0	0	1	17817	547	19	1		1	ZNF283	19	44341288	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	209414	44341288	14787695	2708	86489											
BCAM	4059	broad.mit.edu	37	chr19	45315607	45315607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtggtgagggcaggggCggcaggcactgctgaggcca	21	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45315607C>T	uc002ozu.2	+	3	436	c.392C>T	c.(391-393)GCG>GTG	p.A131V	BCAM_uc002ozt.1_Missense_Mutation_p.A131V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	131	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGGGCAGGGGCGGCAGGCACT	0.706													T	45315607	C	T	45315607	3	4	158	1	0	0	0	0	1	0	0	0	1344	768	27	1	402	1	BCAM	19	45315607	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	974319	45315607	13813376	2709	86490											
PVRL2	5819	broad.mit.edu	37	chr19	45375403	45375403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtgaccctctctgtaCgctgtgagtgtatcgggggt	13	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45375403C>T	uc002ozw.1	+	3	1162	c.772C>T	c.(772-774)CGC>TGC	p.R258C	PVRL2_uc002ozv.2_Missense_Mutation_p.R258C	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	258	Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|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|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTCTCTGTACGCTGTGAGTG	0.557													T	45375403	C	T	45375403	3	4	158	1	0	0	0	0	1	0	0	0	12840	536	19	1	782	1	PVRL2	19	45375403	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	59796	45375403	13753580	2710	86491											
APOE	348	broad.mit.edu	37	chr19	45411901	45411901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggctgtccaaggagctgcaGgcggcgcaggcccggctggg	19	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45411901G>T	uc002pab.2	+	4	431	c.348G>T	c.(346-348)CAG>CAT	p.Q116H		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	116	8 X 22 AA approximate tandem repeats.|2.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGAGCTGCAGGCGGCGCAGG	0.682													T	45411901	G	T	45411901	3	4	158	1	0	0	0	0	1	0	0	0	802	991	35	5	358	5	APOE	19	45411901	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	36498	45411901	13717082	2711	86492											
APOC4	346	broad.mit.edu	37	chr19	45448424	45448424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccttccggggcttcatGcagacctactatgacgacca	9	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45448424G>A	uc002pag.1	+	3	286	c.246G>A	c.(244-246)ATG>ATA	p.M82I	APOC2_uc002pah.2_5'Flank	NM_001646	NP_001637	P55056	APOC4_HUMAN	apolipoprotein C-IV precursor	82					lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GGGGCTTCATGCAGACCTACT	0.592													A	45448424	G	A	45448424	3	1	158	1	0	0	0	0	1	0	0	0	800	1319	46	2	256	2	APOC4	19	45448424	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	36523	45448424	13680559	2712	86493											
NKPD1	284353	broad.mit.edu	37	chr19	45655437	45655437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcggatgagacccatgCgccggcggatggagtggtcc	17	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45655437C>T	uc010xxi.1	-	4	2258	c.2258G>A	c.(2257-2259)CGC>CAC	p.R753H		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GAGACCCATGCGCCGGCGGAT	0.716													T	45655437	C	T	45655437	3	4	158	1	0	0	0	0	1	0	0	0	10446	768	27	1	244	1	NKPD1	19	45655437	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	207013	45655437	13473546	2713	86494											
NKPD1	284353	broad.mit.edu	37	chr19	45655898	45655898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgaaggcagaagagcgcCtcctggattcgccgcgccgc	14	14	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45655898C>A	uc010xxi.1	-	4	1797	c.1797G>T	c.(1795-1797)GAG>GAT	p.E599D		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGAAGAGCGCCTCCTGGATTC	0.716													A	45655898	C	A	45655898	3	1	158	1	0	0	0	0	1	0	0	0	10446	680	24	5	705	5	NKPD1	19	45655898	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	461	45655898	13473085	2714	86495											
RTN2	6253	broad.mit.edu	37	chr19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-													gaacccggaggacaggagtaGggggggtggggcccctttgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572													-	45996513	G	-	45996513	7	5	158	1	0	1	0	1	0	0	0	0	13726	1000	35	0	727	0	RTN2	19	45996513	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	340615	45996513	13132470	2715	86496											
PPM1N	147699	broad.mit.edu	37	chr19	46002505	46002505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggagccagaggtggccGcactggcacgccaggctgag	17	13	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46002505G>A	uc002pce.2	+	1	775	c.775G>A	c.(775-777)GCA>ACA	p.A259T	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	259	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0						AGAGGTGGCCGCACTGGCACG	0.662													A	46002505	G	A	46002505	3	1	158	1	0	0	0	0	1	0	0	0	12346	1087	38	1	777	1	PPM1N	19	46002505	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5992	46002505	13126478	2716	86497											
DMPK	1760	broad.mit.edu	37	chr19	46274916	46274916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccgagcctctgcctcgcGtagttgactgtggggaggta	15	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46274916G>A	uc002pdd.1	-	11	2084	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C	SIX5_uc002pdb.2_5'Flank|SIX5_uc002pdc.2_5'Flank|DMPK_uc010xxs.1_Missense_Mutation_p.R415C|DMPK_uc002pde.1_Missense_Mutation_p.R509C|DMPK_uc002pdf.1_Missense_Mutation_p.R504C|DMPK_uc002pdg.1_Missense_Mutation_p.R499C|DMPK_uc002pdh.1_Missense_Mutation_p.R499C|DMPK_uc002pdi.1_Missense_Mutation_p.R530C|DMPK_uc010xxt.1_Missense_Mutation_p.R499C	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	514					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTGCCTCGCGTAGTTGACTG	0.602													A	46274916	G	A	46274916	3	1	158	1	0	0	0	0	1	0	0	0	4584	1145	40	1	402	1	DMPK	19	46274916	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	272411	46274916	12854067	2717	86498											
NANOS2	339345	broad.mit.edu	37	chr19	46417622	46417622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagcgggcagtacttgagCgtatgggcctggtcaccggt	15	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46417622C>T	uc002pdu.2	-	1	415	c.330G>A	c.(328-330)ACG>ACA	p.T110T		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	110	Nanos-type.|C2HC 2.				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTACTTGAGCGTATGGGCCT	0.657													T	46417622	C	T	46417622	2	4	158	1	0	0	0	0	0	0	0	1	10152	755	27	1		1	NANOS2	19	46417622	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	142706	46417622	12711361	2718	86499											
HIF3A	64344	broad.mit.edu	37	chr19	46832549	46832549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacgccagcgagcagctacCcagggcctaccacagacctc	9	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46832549C>A	uc002peh.2	+	12	1555	c.1526C>A	c.(1525-1527)CCC>CAC	p.P509H	HIF3A_uc002peg.3_Missense_Mutation_p.P509H|HIF3A_uc002pei.3_Missense_Mutation_p.P453H|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.P453H|HIF3A_uc010xxy.1_Missense_Mutation_p.P440H|HIF3A_uc002pel.2_Missense_Mutation_p.P507H|HIF3A_uc010xxz.1_Missense_Mutation_p.P458H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	509	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		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)		GAGCAGCTACCCAGGGCCTAC	0.647													A	46832549	C	A	46832549	3	1	158	1	0	0	0	0	1	0	0	0	7105	623	22	5	1596	5	HIF3A	19	46832549	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	414927	46832549	12296434	2719	86500											
STRN4	29888	broad.mit.edu	37	chr19	47228903	47228903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcatctttgctgtcagaCagctggggttggggggagct	16	7	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:47228903C>T	uc002pfl.2	-	10	1284	c.1251G>A	c.(1249-1251)CTG>CTA	p.L417L	STRN4_uc002pfm.2_Silent_p.L424L|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	417						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		TGCTGTCAGACAGCTGGGGTT	0.597													T	47228903	C	T	47228903	2	4	158	1	0	0	0	0	0	0	0	1	15330	465	17	4		4	STRN4	19	47228903	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	396354	47228903	11900080	2720	86501											
NPAS1	4861	broad.mit.edu	37	chr19	47548495	47548495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgccccagcggagaaCgaggccccccagacccaggg	14	17	0	2	rs147026903		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:47548495C>T	uc002pfw.2	+	12	1555	c.1359C>T	c.(1357-1359)AAC>AAT	p.N453N	NPAS1_uc002pfx.2_Silent_p.N278N|NPAS1_uc002pfy.2_Silent_p.N453N|NPAS1_uc010xyj.1_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	453					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		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)		CAGCGGAGAACGAGGCCCCCC	0.662													T	47548495	C	T	47548495	2	4	158	1	0	0	0	0	0	0	0	1	10562	535	19	1		1	NPAS1	19	47548495	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	319592	47548495	11580488	2721	86502											
ZC3H4	23211	broad.mit.edu	37	chr19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcgctctctcctcctcctCctgctgcttctgctggatcc	6	20	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		TCCTCCTCCTCCTGCTGCTTC	0.701													G	47572412	C	G	47572412	3	3	158	1	0	0	0	0	1	0	0	0	17567	864	30	5	1584	5	ZC3H4	19	47572412	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	23917	47572412	11556571	2722	86503											
GRWD1	83743	broad.mit.edu	37	chr19	48954305	48954305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggtgtttgcctcctgCtcagctgacgcctccatccg	9	18	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:48954305C>T	uc002pjd.2	+	6	1073	c.840C>T	c.(838-840)TGC>TGT	p.C280C		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	280	WD 2.					nucleolus				ovary(1)	1		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)		TTGCCTCCTGCTCAGCTGACG	0.647													T	48954305	C	T	48954305	2	4	158	1	0	0	0	0	0	0	0	1	6811	805	28	2		2	GRWD1	19	48954305	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1381893	48954305	10174678	2723	86504											
CYTH2	9266	broad.mit.edu	37	chr19	48982465	48982465	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagcaggagcagcccTgaccccctgcccccaactcc	9	18	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:48982465T>C	uc002pjj.3	+	13	1501	c.1201T>C	c.(1201-1203)TGA>CGA	p.*401R	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	401					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			ovary(1)	1						GGAGCAGCCCTGACCCCCTGC	0.607													C	48982465	T	C	48982465	4	2	158	1	0	0	0	0	0	0	0	0	4204	1593	55	3	1247	3	CYTH2	19	48982465	Nonstop_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	28160	48982465	10146518	2724	86505											
SPACA4	171169	broad.mit.edu	37	chr19	49110512	49110512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaccaactgctgcaccGgccgcctgtgtaacagagcc	9	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49110512G>A	uc002pjo.2	+	1	513	c.277G>A	c.(277-279)GGC>AGC	p.G93S	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	sperm acrosomal membrane protein 14 precursor	93	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(1)	1		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)		CTGCTGCACCGGCCGCCTGTG	0.647													A	49110512	G	A	49110512	3	1	158	1	0	0	0	0	1	0	0	0	14974	1116	39	1	279	1	SPACA4	19	49110512	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	128047	49110512	10018471	2725	86506											
CA11	770	broad.mit.edu	37	chr19	49142188	49142188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcgcctctcggggtgCcgggggtccctgttgcccct	16	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49142188C>T	uc002pjz.1	-	8	1480	c.918G>A	c.(916-918)CGG>CGA	p.R306R	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	carbonic anhydrase XI precursor	306						extracellular region					0		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)		TCTCGGGGTGCCGGGGGTCCC	0.632													T	49142188	C	T	49142188	2	4	158	1	0	0	0	0	0	0	0	1	2512	726	26	2		2	CA11	19	49142188	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	31676	49142188	9986795	2726	86507											
LHB	3972	broad.mit.edu	37	chr19	49519339	49519339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtctttagaggaagaggaGgcctgagagttgggggtggt	21	3	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49519339G>T	uc002plt.2	-	3	421	c.412C>A	c.(412-414)CTC>ATC	p.L138I		NM_000894	NP_000885	P01229	LSHB_HUMAN	luteinizing hormone beta subunit precursor	138					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGAAGAGGAGGCCTGAGAGT	0.622													T	49519339	G	T	49519339	3	4	158	1	0	0	0	0	1	0	0	0	8761	1000	35	5	17	5	LHB	19	49519339	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	377151	49519339	9609644	2727	86508											
HRC	3270	broad.mit.edu	37	chr19	49657098	49657098	+	Frame_Shift_Del	DEL	G	G	-													ccttgaccactgtgtgtcctGgggggtgatggctcatctct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49657097_49657097TG>T	uc002pmv.3	-	0	1585	c.1398_1398CA>A	c.(1396-1398)ccafs	p.P466fs		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	466					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.P466S(1)		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)		CTGTGTGTCCTGGGGGGTGAT	0.547													-	49657098	G	-	49657098	7	5	158	1	0	1	0	1	0	0	0	0	7352	1348	47	0	726	0	HRC	19	49657098	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	137759	49657098	9471885	2728	86509											
SLC17A7	57030	broad.mit.edu	37	chr19	49933845	49933845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggccccataggagggCgggggtgcagggggtgcccc	21	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49933845C>T	uc002pnp.2	-	12	1786	c.1614G>A	c.(1612-1614)CCG>CCA	p.P538P	SLC17A7_uc002pno.2_Silent_p.P200P	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	538	Cytoplasmic (Potential).|Pro-rich.				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			ovary(1)|pancreas(1)|skin(1)	3		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)		CATAGGAGGGCGGGGGTGCAG	0.647													T	49933845	C	T	49933845	2	4	158	1	0	0	0	0	0	0	0	1	14422	755	27	1		1	SLC17A7	19	49933845	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	276747	49933845	9195138	2729	86510											
RPL13A	23521	broad.mit.edu	37	chr19	49993780	49993780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgaacaccaacccttcccGaggcccctaccacttccggg	8	18	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49993780G>A	uc002pny.2	+	4	225	c.203G>A	c.(202-204)CGA>CAA	p.R68Q	RPL13A_uc002pnz.2_Missense_Mutation_p.R7Q|RPL13A_uc002poa.2_Missense_Mutation_p.R58Q|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	68					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		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)		AACCCTTCCCGAGGCCCCTAC	0.657													A	49993780	G	A	49993780	3	1	158	1	0	0	0	0	1	0	0	0	13560	1058	37	1	217	1	RPL13A	19	49993780	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	59935	49993780	9135203	2730	86511											
FCGRT	2217	broad.mit.edu	37	chr19	50017697	50017697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattctcctgcccgcaccgCctgcgggagcacctggagag	12	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50017697C>T	uc002poe.2	+	4	1041	c.555C>T	c.(553-555)CGC>CGT	p.R185R	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.R185R|FCGRT_uc002pof.1_Silent_p.R90R|FCGRT_uc010yax.1_Silent_p.R185R|FCGRT_uc002poh.1_Silent_p.R45R	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	185	Extracellular (Potential).|Alpha-2.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GCCCGCACCGCCTGCGGGAGC	0.667													T	50017697	C	T	50017697	2	4	158	1	0	0	0	0	0	0	0	1	5786	726	26	2		2	FCGRT	19	50017697	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	23917	50017697	9111286	2731	86512											
NOSIP	51070	broad.mit.edu	37	chr19	50063289	50063289	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgggtcccatagccCgaggccgctggggacagaga	15	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50063289C>A	uc002pok.2	-	4	230	c.78G>T	c.(76-78)TCG>TCT	p.S26S	NOSIP_uc002pol.2_Silent_p.S26S|NOSIP_uc010yay.1_RNA	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	26					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TCCCATAGCCCGAGGCCGCTG	0.607													A	50063289	C	A	50063289	2	1	158	1	0	0	0	0	0	0	0	1	10545	639	23	5		5	NOSIP	19	50063289	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	45592	50063289	9065694	2732	86513											
IRF3	3661	broad.mit.edu	37	chr19	50166731	50166731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttggcaggtctggcttaTccctcccgggaacatatgca	12	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50166731T>C	uc010end.1	-	3	588	c.206A>G	c.(205-207)GAT>GGT	p.D69G	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Missense_Mutation_p.D69G|IRF3_uc002pox.1_Missense_Mutation_p.D69G|IRF3_uc002poy.1_Missense_Mutation_p.D69G|IRF3_uc002pou.2_Missense_Mutation_p.D69G|IRF3_uc002pov.2_5'UTR|IRF3_uc002pow.2_Missense_Mutation_p.D69G|IRF3_uc002poz.1_Missense_Mutation_p.D69G|IRF3_uc010ene.1_Intron|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	69	IRF tryptophan pentad repeat.				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			ovary(2)	2		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)		GTCTGGCTTATCCCTCCCGGG	0.612													C	50166731	T	C	50166731	3	2	158	1	0	0	0	0	1	0	0	0	7831	1435	50	3	1101	3	IRF3	19	50166731	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	103442	50166731	8962252	2733	86514											
NAPSA	9476	broad.mit.edu	37	chr19	50862846	50862846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgagggacgtgcccgTatccaggatggcagcacagc	15	10	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50862846T>C	uc002prx.2	-	7	903	c.850A>G	c.(850-852)ACG>GCG	p.T284A	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	284					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GACGTGCCCGTATCCAGGATG	0.637													C	50862846	T	C	50862846	3	2	158	1	0	0	0	0	1	0	0	0	10166	1638	57	3	424	3	NAPSA	19	50862846	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	696115	50862846	8266137	2734	86515											
ASPDH	554235	broad.mit.edu	37	chr19	51015393	51015393	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggggcctggccgcacCcaggaggctctgccagaagg	18	12	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51015393C>A	uc010enz.2	-	6	870	c.808G>T	c.(808-810)GCC>TCC	p.A270S	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_Missense_Mutation_p.A165S	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	aspartate dehydrogenase isoform 1	270					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding				0						CTGGCCGCACCCAGGAGGCTC	0.672													A	51015393	C	A	51015393	3	1	158	1	0	0	0	0	1	0	0	0	1051	637	22	5	51	5	ASPDH	19	51015393	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	152547	51015393	8113590	2735	86516											
ASPDH	554235	broad.mit.edu	37	chr19	51015680	51015682	+	In_Frame_Del	DEL	GCC	GCC	-													ggctgggggcagccagggcaGccgccgccatggtgttggaa					rs138962881	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51015680_51015682delGCC	uc010enz.2	-	5	650_652	c.588_590delGGC	c.(586-591)GCGGCT>GCT	p.196_197AA>A	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_In_Frame_Del_p.91_92AA>A	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	aspartate dehydrogenase isoform 1	196_197					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding				0						AGCCAGGGCAGCCGCCGCCATGG	0.655													-	51015682	GCC	-	51015680	7	5	158	1	0	1	0	1	0	0	0	0	1051	971	34	0	273	0	ASPDH	19	51015680	In_Frame_Del	DEL	GCC	TCGA-CD-A4MG-01A-11D-A25D-08	287	51015680	8113303	2736	86517											
SHANK1	50944	broad.mit.edu	37	chr19	51191207	51191207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgcactgcctcatccatgtCcgggtgcctggtgaccatca	11	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51191207C>A	uc002psx.1	-	17	2300	c.2281G>T	c.(2281-2283)GAC>TAC	p.D761Y	SHANK1_uc002psw.1_Missense_Mutation_p.D145Y	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	761					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCATCCATGTCCGGGTGCCTG	0.637													A	51191207	C	A	51191207	3	1	158	1	0	0	0	0	1	0	0	0	14264	855	30	5	4232	5	SHANK1	19	51191207	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	175527	51191207	7937776	2737	86518											
KLK15	55554	broad.mit.edu	37	chr19	51330242	51330242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacgcgtgggtagcaccgCggggcgcacctgggggttca	18	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51330242C>T	uc002ptl.2	-	3	404	c.373G>A	c.(373-375)GCG>ACG	p.A125T	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.A125T|KLK15_uc002pto.2_Missense_Mutation_p.A124T|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.A124T|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	125	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGTAGCACCGCGGGGCGCACC	0.711													T	51330242	C	T	51330242	3	4	158	1	0	0	0	0	1	0	0	0	8403	768	27	1	409	1	KLK15	19	51330242	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	139035	51330242	7798741	2738	86519											
KLK8	11202	broad.mit.edu	37	chr19	51503766	51503766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggccctggaacaaggcCgcctgccaaggctgcgaatg	14	13	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51503766C>T	uc002pur.1	-	3	323	c.144G>A	c.(142-144)GCG>GCA	p.A48A	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Silent_p.A93A|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.A48A|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	48	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGAACAAGGCCGCCTGCCAAG	0.597													T	51503766	C	T	51503766	2	4	158	1	0	0	0	0	0	0	0	1	8410	639	23	1		1	KLK8	19	51503766	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	173524	51503766	7625217	2739	86520											
KLK9	284366	broad.mit.edu	37	chr19	51507070	51507070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggatgctgatgttggCacactgcagtgtgactggaa	13	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51507070C>T	uc002pux.1	-	4	580	c.493G>A	c.(493-495)GCC>ACC	p.A165T	KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.A136T|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK9_uc002puv.1_RNA	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	165	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGATGTTGGCACACTGCAGT	0.582													T	51507070	C	T	51507070	3	4	158	1	0	0	0	0	1	0	0	0	8411	710	25	2	267	2	KLK9	19	51507070	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3304	51507070	7621913	2740	86521											
IGLON5	402665	broad.mit.edu	37	chr19	51830340	51830340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccctcgccagatcctcCgaccatcacggacgtgacca	8	18	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51830340C>T	uc002pwc.2	+	6	653	c.653C>T	c.(652-654)CCG>CTG	p.P218L		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	218	Ig-like C2-type 3.					extracellular region					0						CCAGATCCTCCGACCATCACG	0.716													T	51830340	C	T	51830340	3	4	158	1	0	0	0	0	1	0	0	0	7595	652	23	1	675	1	IGLON5	19	51830340	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	323270	51830340	7298643	2741	86522											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919372	51919372	+	Frame_Shift_Del	DEL	T	T	-													aggagccgcaggaactggccTttttgggcttccaggtatgg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51919372delT	uc002pwo.2	-	5	1420	c.804delA	c.(802-804)AAAfs	p.K268fs	SIGLEC10_uc002pwp.2_Frame_Shift_Del_p.K210fs|SIGLEC10_uc002pwq.2_Frame_Shift_Del_p.K210fs|SIGLEC10_uc002pwr.2_Frame_Shift_Del_p.K268fs|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Frame_Shift_Del_p.K220fs|SIGLEC10_uc010eow.2_Frame_Shift_Del_p.K80fs|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	268	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAACTGGCCTTTTTGGGCTT	0.483													-	51919372	T	-	51919372	7	5	158	1	0	1	0	1	0	0	0	0	14306	1606	56	0	1317	0	SIGLEC10	19	51919372	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	89032	51919372	7209611	2742	86523											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960986	51960986	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaggatgtcaggcctatgGgtcagggctggtgaagatgg	18	5	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51960986G>T	uc002pwt.2	-	2	529	c.462C>A	c.(460-462)ACC>ACA	p.T154T	SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	154	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGCCTATGGGTCAGGGCTG	0.617													T	51960986	G	T	51960986	2	4	158	1	0	0	0	0	0	0	0	1	14314	1219	43	5		5	SIGLEC8	19	51960986	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	41614	51960986	7167997	2743	86524											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130901	52130901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcttctcctcaagccGccagcacagggagggggccg	15	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52130901G>A	uc002pxe.2	-	6	1235	c.1096C>T	c.(1096-1098)CGG>TGG	p.R366W		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	366	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCTCAAGCCGCCAGCACAGG	0.667													A	52130901	G	A	52130901	3	1	158	1	0	0	0	0	1	0	0	0	14311	1086	38	1	575	1	SIGLEC5	19	52130901	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	169915	52130901	6998082	2744	86525											
ZNF649	65251	broad.mit.edu	37	chr19	52394014	52394014	+	Frame_Shift_Del	DEL	C	C	-													attttccaccttcactgaatCcccccgtttctcccttgagt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52394013_52394013TC>T	uc002pxy.3	-	4	1702	c.1376_1376GA>A	c.(1375-1377)gatfs	p.D459fs	ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.4_5'Flank|ZNF577_uc002pxv.3_5'Flank|ZNF577_uc002pxw.3_5'Flank|ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_Intron	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	459					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)		CTTCACTGAATCCCCCCGTTT	0.448													-	52394014	C	-	52394014	7	5	158	1	0	1	0	1	0	0	0	0	18061	855	30	0	146	0	ZNF649	19	52394014	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	263113	52394014	6734969	2745	86526											
ZNF616	90317	broad.mit.edu	37	chr19	52620074	52620075	+	Frame_Shift_Ins	INS	-	-	G													ccagtaagattgttttcatgINSgggcactggcacttctttat							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52620073_52620074T>TG	uc002pym.3	-	3	626_627	c.343_344A>CA	c.(343-345)catfs	p.H115fs	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	115					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)		ATTGTTTTCATGGGGCACTGGC	0.347													G	52620075	-	G	52620074	7	5	158	1	0	1	1	0	0	0	0	0	18038	1348	47	0	2006	0	ZNF616	19	52620074	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	226060	52620074	6508909	2746	86527											
ZNF766	90321	broad.mit.edu	37	chr19	52794336	52794336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaccttgcaaatcatcagaGaatccacactggagagaaac	7	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52794336G>A	uc002pyr.1	+	4	1335	c.1292G>A	c.(1291-1293)AGA>AAA	p.R431K	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Missense_Mutation_p.R446K	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	431	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AATCATCAGAGAATCCACACT	0.418													A	52794336	G	A	52794336	3	1	158	1	0	0	0	0	1	0	0	0	18137	942	33	4	1306	4	ZNF766	19	52794336	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	174262	52794336	6334647	2747	86528											
CACNG7	59284	broad.mit.edu	37	chr19	54444820	54444820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagtattttcattatcGctacgggtggtcttttgcct	10	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54444820G>A	uc002qcr.1	+	4	536	c.521G>A	c.(520-522)CGC>CAC	p.R174H	CACNG7_uc010era.1_Missense_Mutation_p.R174H	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	174					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			ovary(1)	1	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)		TTTCATTATCGCTACGGGTGG	0.527													A	54444820	G	A	54444820	3	1	158	1	0	0	0	0	1	0	0	0	2562	1087	38	1	535	1	CACNG7	19	54444820	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1650484	54444820	4684163	2748	86529											
CACNG7	59284	broad.mit.edu	37	chr19	54444845	54444845	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtggtcttttgccttcgcCgcttcctccttcctactcaa	8	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54444845C>A	uc002qcr.1	+	4	561	c.546C>A	c.(544-546)GCC>GCA	p.A182A	CACNG7_uc010era.1_Silent_p.A182A	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	182	Helical; (Potential).				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			ovary(1)	1	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)		TTGCCTTCGCCGCTTCCTCCT	0.488													A	54444845	C	A	54444845	2	1	158	1	0	0	0	0	0	0	0	1	2562	639	23	5		5	CACNG7	19	54444845	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	25	54444845	4684138	2749	86530											
CACNG7	59284	broad.mit.edu	37	chr19	54445522	54445522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaagtacccggaccaccTgcacatctccacctcgccct	5	20	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54445522T>C	uc002qcr.1	+	5	818	c.803T>C	c.(802-804)CTG>CCG	p.L268P		NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	268				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	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			ovary(1)	1	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)		CCGGACCACCTGCACATCTCC	0.687													C	54445522	T	C	54445522	3	2	158	1	0	0	0	0	1	0	0	0	2562	1580	55	3	821	3	CACNG7	19	54445522	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	677	54445522	4683461	2750	86531											
CACNG8	59283	broad.mit.edu	37	chr19	54483177	54483177	+	Frame_Shift_Del	DEL	G	G	-													gcgccatcctgctgctgctcGggggtgtgtgcgtggcggcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54483177delG	uc002qcs.1	+	3	527	c.421delG	c.(421-423)GGGfs	p.G141fs	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	142	Helical; (Potential).				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				0	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)		GCTGCTGCTCGGGGGTGTGTG	0.637													-	54483177	G	-	54483177	7	5	158	1	0	1	0	1	0	0	0	0	2563	1116	39	0	434	0	CACNG8	19	54483177	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	37655	54483177	4645806	2751	86532											
TFPT	29844	broad.mit.edu	37	chr19	54611662	54611662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtgaactggctggcccGgtagtcatccccgtaggagt	14	10	1	1	rs148303725	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54611662G>A	uc010yej.1	-	4	800	c.394C>T	c.(394-396)CGG>TGG	p.R132W		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner	132					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding				0	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)					TGGCTGGCCCGGTAGTCATCC	0.602			T	TCF3	pre-B ALL								A	54611662	G	A	54611662	3	1	158	1	0	0	0	0	1	0	0	0	15807	1115	39	1	379	1	TFPT	19	54611662	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	128485	54611662	4517321	2752	86533											
TMC4	147798	broad.mit.edu	37	chr19	54664875	54664875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgcacttacaggaagatGctgtaaagcaggggaacgct	12	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54664875G>A	uc010erf.2	-	12	1959	c.1827C>T	c.(1825-1827)AGC>AGT	p.S609S	LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.S323S|TMC4_uc002qdo.2_Silent_p.S603S	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	609	Helical; (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGGAAGATGCTGTAAAGCA	0.607													A	54664875	G	A	54664875	2	1	158	1	0	0	0	0	0	0	0	1	15984	1310	46	2		2	TMC4	19	54664875	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	53213	54664875	4464108	2753	86534											
LILRB2	10288	broad.mit.edu	37	chr19	54782342	54782342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgccatgactgacacaGcagggtcacgttctctcctg	10	15	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54782342G>A	uc002qfb.2	-	7	1296	c.1030C>T	c.(1030-1032)CTG>TTG	p.L344L	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.L344L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.L344L|LILRB2_uc010yet.1_Silent_p.L228L|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	344	Extracellular (Potential).|Ig-like C2-type 4.				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			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTGACACAGCAGGGTCACG	0.562													A	54782342	G	A	54782342	2	1	158	1	0	0	0	0	0	0	0	1	8791	962	34	2		2	LILRB2	19	54782342	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	117467	54782342	4346641	2754	86535											
LENG8	114823	broad.mit.edu	37	chr19	54966171	54966171	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagttcaacatccagaagCgaccctttgctgttaccacc	6	14	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54966171C>T	uc002qfv.1	+	6	754	c.610C>T	c.(610-612)CGA>TGA	p.R204*	LENG8_uc002qfw.2_Nonsense_Mutation_p.R241*			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	204							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CATCCAGAAGCGACCCTTTGC	0.602													T	54966171	C	T	54966171	4	4	158	1	0	0	0	0	0	1	0	0	8724	760	27	1	743	1	LENG8	19	54966171	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	183829	54966171	4162812	2755	86536											
LILRA1	11024	broad.mit.edu	37	chr19	55107196	55107196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtttctgatgtcagcTacgacagatttgttctgtat	10	6	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55107196T>C	uc002qgh.1	+	6	936	c.754T>C	c.(754-756)TAC>CAC	p.Y252H	LILRA2_uc010yfg.1_Missense_Mutation_p.Y250H|LILRA1_uc010yfh.1_Missense_Mutation_p.Y252H	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	252	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGATGTCAGCTACGACAGATT	0.572													C	55107196	T	C	55107196	3	2	158	1	0	0	0	0	1	0	0	0	8784	1522	53	3	772	3	LILRA1	19	55107196	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	141025	55107196	4021787	2756	86537											
LILRB1	10859	broad.mit.edu	37	chr19	55144181	55144181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcctccgagtggtcggccCccagcgaccccctggacatc	10	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55144181C>A	uc002qgj.2	+	7	1268	c.928C>A	c.(928-930)CCC>ACC	p.P310T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P310T|LILRB1_uc002qgk.2_Missense_Mutation_p.P310T|LILRB1_uc002qgm.2_Missense_Mutation_p.P310T|LILRB1_uc010erq.2_Missense_Mutation_p.P310T|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	310	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		GTGGTCGGCCCCCAGCGACCC	0.677										HNSCC(37;0.09)			A	55144181	C	A	55144181	3	1	158	1	0	0	0	0	1	0	0	0	8790	623	22	5	946	5	LILRB1	19	55144181	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	36985	55144181	3984802	2757	86538											
KIR2DS4	3809	broad.mit.edu	37	chr19	55351096	55351096	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacagatgcttcggctctttCcgtgacgctccctacgagtg	10	13	1	2	rs140185602		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55351096C>T	uc002qhm.1	+	5	652	c.606C>T	c.(604-606)TTC>TTT	p.F202F	KIR2DS4_uc010yfj.1_Missense_Mutation_p.S188F|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.S195F|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	202	Extracellular (Potential).|Ig-like C2-type 2.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		TCGGCTCTTTCCGTGACGCTC	0.567													T	55351096	C	T	55351096	2	4	158	1	0	0	0	0	0	0	0	1	8319	855	30	4		4	KIR2DS4	19	55351096	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	206915	55351096	3777887	2758	86539											
RDH13	112724	broad.mit.edu	37	chr19	55559833	55559833	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcaacatgggccagGgacgagaggttgatgatccg	15	10	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55559833G>T	uc002qio.3	-	5	707	c.522C>A	c.(520-522)TCC>TCA	p.S174S	RDH13_uc002qip.2_Silent_p.S103S|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	174		Substrate (By similarity).					binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CATGGGCCAGGGACGAGAGGT	0.522													T	55559833	G	T	55559833	2	4	158	1	0	0	0	0	0	0	0	1	13192	1219	43	5		5	RDH13	19	55559833	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	208737	55559833	3569150	2759	86540											
PTPRH	5794	broad.mit.edu	37	chr19	55718172	55718172	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggtgacgttggtggctgtTgtgtttcgagtctctgttgt	15	6	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55718172T>C	uc002qjq.2	-	3	310	c.237A>G	c.(235-237)ACA>ACG	p.T79T	PTPRH_uc010esv.2_Silent_p.T79T|PTPRH_uc002qjs.2_Silent_p.T86T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	79	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGTGGCTGTTGTGTTTCGAG	0.557													C	55718172	T	C	55718172	2	2	158	1	0	0	0	0	0	0	0	1	12803	1799	63	3		3	PTPRH	19	55718172	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	158339	55718172	3410811	2760	86541											
TMEM86B	255043	broad.mit.edu	37	chr19	55738637	55738637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcatgatcaccaggtggGcatggggcaggggctgggcg	20	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55738637G>A	uc002qju.2	-	3	1116	c.593C>T	c.(592-594)GCC>GTC	p.A198V	TMEM86B_uc002qjt.2_Missense_Mutation_p.A197V	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	transmembrane protein 86B	198	Helical; (Potential).				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CACCAGGTGGGCATGGGGCAG	0.667													A	55738637	G	A	55738637	3	1	158	1	0	0	0	0	1	0	0	0	16206	1203	42	2	91	2	TMEM86B	19	55738637	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	20465	55738637	3390346	2761	86542											
ZNF628	89887	broad.mit.edu	37	chr19	55993937	55993937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaaatgtgccgagtgCggcaagtccttcaagggctc	11	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55993937C>T	uc002qld.2	+	3	1930	c.1365C>T	c.(1363-1365)TGC>TGT	p.C455C	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	455	C2H2-type 10.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGCCGAGTGCGGCAAGTCCT	0.726													T	55993937	C	T	55993937	2	4	158	1	0	0	0	0	0	0	0	1	18049	776	27	1		1	ZNF628	19	55993937	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	255300	55993937	3135046	2762	86543											
ZNF628	89887	broad.mit.edu	37	chr19	55995122	55995122	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcacaggaagtaaccacggtCcagctccagccagcacagga	11	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55995122C>A	uc002qld.2	+	3	3115	c.2550C>A	c.(2548-2550)GTC>GTA	p.V850V	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	850	4.|4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TAACCACGGTCCAGCTCCAGC	0.657													A	55995122	C	A	55995122	2	1	158	1	0	0	0	0	0	0	0	1	18049	842	30	5		5	ZNF628	19	55995122	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1185	55995122	3133861	2763	86544											
ZNF579	163033	broad.mit.edu	37	chr19	56090214	56090214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtcgcttggggcgtggCgggggccccccttccccttc	16	15	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56090214C>T	uc002qlh.2	-	2	845	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TGGGGCGTGGCGGGGGCCCCC	0.711													T	56090214	C	T	56090214	2	4	158	1	0	0	0	0	0	0	0	1	18008	755	27	1		1	ZNF579	19	56090214	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	95092	56090214	3038769	2764	86545											
ZNF581	51545	broad.mit.edu	37	chr19	56155974	56155974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgccctcagcctctgGcattttcctccgttgagacc	7	19	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56155974G>A	uc002qln.2	+	2	753	c.37G>A	c.(37-39)GCA>ACA	p.A13T	ZNF581_uc002qlq.2_Missense_Mutation_p.A13T|CCDC106_uc002qlr.2_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	zinc finger protein 581	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCAGCCTCTGGCATTTTCCTC	0.612													A	56155974	G	A	56155974	3	1	158	1	0	0	0	0	1	0	0	0	18010	1203	42	2	39	2	ZNF581	19	56155974	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	65760	56155974	2973009	2765	86546											
U2AF2	11338	broad.mit.edu	37	chr19	56173906	56173906	+	Frame_Shift_Del	DEL	G	G	-													ttcaacgcccagatgcgcctGggggggctgacccaggcccc					rs149491308		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56173906delG	uc002qlu.2	+	6	1580	c.525delG	c.(523-525)CTGfs	p.L175fs	U2AF2_uc002qlt.2_Frame_Shift_Del_p.L175fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	175	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGATGCGCCTGGGGGGGCTGA	0.453													-	56173906	G	-	56173906	7	5	158	1	0	1	0	1	0	0	0	0	16820	1335	47	0	547	0	U2AF2	19	56173906	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	17932	56173906	2955077	2766	86547											
NLRP8	126205	broad.mit.edu	37	chr19	56466553	56466553	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggacacacagaggagggaGaccaagtcttgagtttcgcc	13	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56466553G>C	uc002qmh.2	+	3	1200	c.1129G>C	c.(1129-1131)GAC>CAC	p.D377H	NLRP8_uc010etg.2_Missense_Mutation_p.D377H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	377	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGGAGGGAGACCAAGTCTT	0.478													C	56466553	G	C	56466553	3	2	158	1	0	0	0	0	1	0	0	0	10483	942	33	5	1139	5	NLRP8	19	56466553	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	292647	56466553	2662430	2767	86548											
NLRP8	126205	broad.mit.edu	37	chr19	56482022	56482022	+	Frame_Shift_Del	DEL	G	G	-													aaaactccctggagaactgtGgggcgtattacctgtctgtg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56482021_56482021TG>T	uc002qmh.3	+	5	2564	c.2493_2493TG>T	c.(2491-2493)tgtfs	p.C831fs	NLRP8_uc010etg.3_Frame_Shift_Del_p.C831fs	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	831						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)		TGGAGAACTGTGGGGCGTATT	0.488													-	56482022	G	-	56482022	7	5	158	1	0	1	0	1	0	0	0	0	10483	1348	47	0	2516	0	NLRP8	19	56482022	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	15469	56482022	2646961	2768	86549											
ZNF835	90485	broad.mit.edu	37	chr19	57175886	57175886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttgcggaacgccttggcGcactgggcgcacgcgtaggg	18	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:57175886G>A	uc010ygo.1	-	2	747	c.747C>T	c.(745-747)TGC>TGT	p.C249C	ZNF835_uc010ygn.1_Silent_p.C227C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						ACGCCTTGGCGCACTGGGCGC	0.706													A	57175886	G	A	57175886	2	1	158	1	0	0	0	0	0	0	0	1	18183	1079	38	1		1	ZNF835	19	57175886	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	693864	57175886	1953097	2769	86550											
ZNF549	256051	broad.mit.edu	37	chr19	58049967	58049967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacaactttgtgagtgcaAtgaatgtggaaaagtcttca	10	5	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:58049967A>G	uc002qpb.1	+	4	1844	c.1595A>G	c.(1594-1596)AAT>AGT	p.N532S	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.N519S	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(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)		TGTGAGTGCAATGAATGTGGA	0.433													G	58049967	A	G	58049967	3	3	158	1	0	0	0	0	1	0	0	0	17978	101	4	3	1566	3	ZNF549	19	58049967	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	874081	58049967	1079016	2770	86551											
ZNF324B	388569	broad.mit.edu	37	chr19	58966986	58966986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggatcgcagaatgggCgcagcttggcaggagcctca	17	10	1	1	rs138131580		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:58966986C>T	uc002qsv.1	+	4	782	c.675C>T	c.(673-675)GGC>GGT	p.G225G	ZNF324B_uc002qsu.1_Silent_p.G215G|ZNF324B_uc010euq.1_Silent_p.G225G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		GCAGAATGGGCGCAGCTTGGC	0.647													T	58966986	C	T	58966986	2	4	158	1	0	0	0	0	0	0	0	1	17842	755	27	1		1	ZNF324B	19	58966986	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	917019	58966986	161997	2771	86552											
TRIM28	10155	broad.mit.edu	37	chr19	59060528	59060528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattgaacgtggcgctgccgCtgcagctaccggccagccag	13	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:59060528C>A	uc002qtg.1	+	12	1872	c.1583C>A	c.(1582-1584)GCT>GAT	p.A528D	TRIM28_uc010eut.1_Missense_Mutation_p.A446D|TRIM28_uc002qth.1_Missense_Mutation_p.A143D	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	528	Poly-Ala.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		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)		GGCGCTGCCGCTGCAGCTACC	0.607													A	59060528	C	A	59060528	3	1	158	1	0	0	0	0	1	0	0	0	16499	797	28	5	1629	5	TRIM28	19	59060528	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	93542	59060528	68455	2772	86553											
RBCK1	10616	broad.mit.edu	37	chr20	409696	409696	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcaccgtctgccacacCgagatctgctgggtcaccaa	10	16	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:409696C>A	uc002wdp.3	+	11	2103	c.1410C>A	c.(1408-1410)ACC>ACA	p.T470T	RBCK1_uc002wdq.3_Silent_p.T428T|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.T300T	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	470	IBR-type 2.				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				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCTGCCACACCGAGATCTGCT	0.647													A	409696	C	A	409696	2	1	158	1	0	0	0	0	0	0	0	1	13107	639	23	5		5	RBCK1	20	409696	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08		409696	62615824	2773	86554											
SNPH	9751	broad.mit.edu	37	chr20	1285934	1285934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctctgctgaggatgggGcagacagtggctttgcagca	17	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:1285934G>A	uc002wes.2	+	6	957	c.721G>A	c.(721-723)GCA>ACA	p.A241T	SNPH_uc002wet.2_Missense_Mutation_p.A285T	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	241					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						TGAGGATGGGGCAGACAGTGG	0.667													A	1285934	G	A	1285934	3	1	158	1	0	0	0	0	1	0	0	0	14850	1203	42	2	735	2	SNPH	20	1285934	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	876238	1285934	61739586	2774	86555											
ZNF343	79175	broad.mit.edu	37	chr20	2474218	2474218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcagtatcattagaagGcaagcctagggaaagaaaaa	11	6	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:2474218G>A	uc002wge.1	-	4	612	c.124C>T	c.(124-126)CCT>TCT	p.P42S	ZNF343_uc010gao.1_Missense_Mutation_p.P42S|ZNF343_uc002wgd.1_5'Flank	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCATTAGAAGGCAAGCCTAGG	0.502													A	2474218	G	A	2474218	3	1	158	1	0	0	0	0	1	0	0	0	17855	1203	42	2	1687	2	ZNF343	20	2474218	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1188284	2474218	60551302	2775	86556											
C20orf141	128653	broad.mit.edu	37	chr20	2796244	2796244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccagagtcagggggcCggtgaaggtcctggacagca	19	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:2796244C>T	uc010gat.2	+	3	404	c.321C>T	c.(319-321)GCC>GCT	p.A107A	C20orf141_uc002wgv.1_Intron|C20orf141_uc002wgw.2_Silent_p.A107A|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN	hypothetical protein LOC128653	107	Leu-rich.					integral to membrane					0						GTCAGGGGGCCGGTGAAGGTC	0.612													T	2796244	C	T	2796244	2	4	158	1	0	0	0	0	0	0	0	1	2089	639	23	1		1	C20orf141	20	2796244	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	322026	2796244	60229276	2776	86557											
PTPRA	5786	broad.mit.edu	37	chr20	3016331	3016331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgagagctacaccgtccGagacctcctggtcaccaaca	9	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3016331G>A	uc010zqd.1	+	20	2371	c.2054G>A	c.(2053-2055)CGA>CAA	p.R685Q	PTPRA_uc002whj.2_Missense_Mutation_p.R674Q|PTPRA_uc002whk.2_Missense_Mutation_p.R665Q|PTPRA_uc002whl.2_Missense_Mutation_p.R665Q|PTPRA_uc002whm.2_Missense_Mutation_p.R441Q|PTPRA_uc002whn.2_Missense_Mutation_p.R665Q|PTPRA_uc002who.2_Missense_Mutation_p.R337Q	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	674	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						TACACCGTCCGAGACCTCCTG	0.547													A	3016331	G	A	3016331	3	1	158	1	0	0	0	0	1	0	0	0	12795	1058	37	1	2091	1	PTPRA	20	3016331	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	220087	3016331	60009189	2777	86558											
PTPRA	5786	broad.mit.edu	37	chr20	3017888	3017888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattttggatgtcttccagActgtcaagagcctgcggcta	12	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3017888A>G	uc010zqd.1	+	22	2637	c.2320A>G	c.(2320-2322)ACT>GCT	p.T774A	PTPRA_uc002whj.2_Missense_Mutation_p.T763A|PTPRA_uc002whk.2_Missense_Mutation_p.T754A|PTPRA_uc002whl.2_Missense_Mutation_p.T754A|PTPRA_uc002whm.2_Missense_Mutation_p.T530A|PTPRA_uc002whn.2_Missense_Mutation_p.T754A|PTPRA_uc002who.2_Missense_Mutation_p.T426A	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	763	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						TGTCTTCCAGACTGTCAAGAG	0.597													G	3017888	A	G	3017888	3	3	158	1	0	0	0	0	1	0	0	0	12795	275	10	3	2365	3	PTPRA	20	3017888	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1557	3017888	60007632	2778	86559											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3147499	3147499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcggtgtggtcactgcccCgcagctcaccattgaggtag	12	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3147499C>T	uc002wia.1	-	1	1709	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R104Q	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	104						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						GTCACTGCCCCGCAGCTCACC	0.657													T	3147499	C	T	3147499	3	4	158	1	0	0	0	0	1	0	0	0	12870	652	23	1	1722	1	ProSAPiP1	20	3147499	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	129611	3147499	59878021	2779	86560											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3147675	3147675	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcaaactcctgggcatgGgccaccccactgcccacgct	10	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3147675G>T	uc002wia.1	-	1	1533	c.135C>A	c.(133-135)GCC>GCA	p.A45A	ProSAPiP1_uc002wib.1_Silent_p.A45A	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	45						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CCTGGGCATGGGCCACCCCAC	0.721													T	3147675	G	T	3147675	2	4	158	1	0	0	0	0	0	0	0	1	12870	1219	43	5		5	ProSAPiP1	20	3147675	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	176	3147675	59877845	2780	86561											
C20orf27	54976	broad.mit.edu	37	chr20	3739308	3739308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcaaagcggatactccGgactctgggcttgttgccta	12	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3739308G>A	uc002wji.1	-	3	266	c.37C>T	c.(37-39)CGG>TGG	p.R13W	C20orf27_uc002wjf.1_Missense_Mutation_p.R38W|C20orf27_uc002wjh.1_Missense_Mutation_p.R38W	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	13											0						CGGATACTCCGGACTCTGGGC	0.602													A	3739308	G	A	3739308	3	1	158	1	0	0	0	0	1	0	0	0	2107	1115	39	1	503	1	C20orf27	20	3739308	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	591633	3739308	59286212	2781	86562											
PANK2	80025	broad.mit.edu	37	chr20	3869793	3869793	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacgcgtccattgggcggcgCcgccatcactctcttctggg	12	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3869793C>G	uc002wkc.2	+	1	52	c.46C>G	c.(46-48)CCG>GCG	p.P16A	uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	16					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						TTGGGCGGCGCCGCCATCACT	0.706													G	3869793	C	G	3869793	3	3	158	1	0	0	0	0	1	0	0	0	11417	739	26	5	48	5	PANK2	20	3869793	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	130485	3869793	59155727	2782	86563											
SMOX	54498	broad.mit.edu	37	chr20	4158114	4158114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccgatggggaacgcagcGtgggccgcatcagcctctat	13	13	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:4158114G>A	uc002wkm.1	+	3	526	c.325G>A	c.(325-327)GTG>ATG	p.V109M	SMOX_uc002wkk.1_Missense_Mutation_p.V109M|SMOX_uc002wkl.1_Missense_Mutation_p.V109M|SMOX_uc002wkn.1_Missense_Mutation_p.V109M|SMOX_uc002wkp.2_Missense_Mutation_p.V109M|SMOX_uc010zqo.1_Missense_Mutation_p.V86M|SMOX_uc002wko.1_Missense_Mutation_p.V109M	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	109					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	GGAACGCAGCGTGGGCCGCAT	0.582													A	4158114	G	A	4158114	3	1	158	1	0	0	0	0	1	0	0	0	14803	1145	40	1	331	1	SMOX	20	4158114	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	288321	4158114	58867406	2783	86564											
PRND	23627	broad.mit.edu	37	chr20	4705598	4705598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagcaggtgctctggcGgctggtccaggagctctgct	14	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:4705598G>A	uc002wkz.2	+	2	472	c.401G>A	c.(400-402)CGG>CAG	p.R134Q		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	134	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0						GTGCTCTGGCGGCTGGTCCAG	0.612													A	4705598	G	A	4705598	3	1	158	1	0	0	0	0	1	0	0	0	12543	1116	39	1	403	1	PRND	20	4705598	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	547484	4705598	58319922	2784	86565											
PROKR2	128674	broad.mit.edu	37	chr20	5283252	5283252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctcttgacaataaagaGgaccgtttctgttgcaaagt	10	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:5283252G>T	uc010zqw.1	-	2	589	c.589C>A	c.(589-591)CTC>ATC	p.L197I	PROKR2_uc010zqx.1_Missense_Mutation_p.L197I|PROKR2_uc010zqy.1_Missense_Mutation_p.L197I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	197	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ACAATAAAGAGGACCGTTTCT	0.488										HNSCC(71;0.22)			T	5283252	G	T	5283252	3	4	158	1	0	0	0	0	1	0	0	0	12553	1000	35	5	568	5	PROKR2	20	5283252	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	577654	5283252	57742268	2785	86566											
MCM8	84515	broad.mit.edu	37	chr20	5966645	5966645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatgctcggcagtatgtGtacccaaggctatccacaga	11	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:5966645G>A	uc002wmi.2	+	16	2408	c.2031G>A	c.(2029-2031)GTG>GTA	p.V677V	MCM8_uc002wmj.2_Silent_p.V661V|MCM8_uc002wmk.2_Silent_p.V717V|MCM8_uc002wml.2_Silent_p.V677V|MCM8_uc010gbp.2_Silent_p.V630V|MCM8_uc002wmm.2_Silent_p.V215V	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	677					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			skin(1)	1						GGCAGTATGTGTACCCAAGGC	0.463													A	5966645	G	A	5966645	2	1	158	1	0	0	0	0	0	0	0	1	9393	1364	48	4		4	MCM8	20	5966645	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	683393	5966645	57058875	2786	86567											
PLCB1	23236	broad.mit.edu	37	chr20	8609002	8609002	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggagcagcgcatgaTcacagtggtgtatgggcctg	16	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:8609002T>A	uc002wnb.2	+	4	311	c.308T>A	c.(307-309)ATC>AAC	p.I103N	PLCB1_uc010zrb.1_Missense_Mutation_p.I2N|PLCB1_uc010gbv.1_Missense_Mutation_p.I103N|PLCB1_uc002wmz.1_Missense_Mutation_p.I103N|PLCB1_uc002wna.2_Missense_Mutation_p.I103N|PLCB1_uc002wnc.1_Missense_Mutation_p.I2N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	103					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CAGCGCATGATCACAGTGGTG	0.453													A	8609002	T	A	8609002	3	1	158	1	0	0	0	0	1	0	0	0	12027	1435	50	5	322	5	PLCB1	20	8609002	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2642357	8609002	54416518	2787	86568											
RRBP1	6238	broad.mit.edu	37	chr20	17617291	17617291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgcgtgcctgcacagcCgtgatctcctgctcccgggc	12	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:17617291C>T	uc002wpv.1	-	7	1323	c.969G>A	c.(967-969)ACG>ACA	p.T323T	RRBP1_uc002wpu.2_Silent_p.T97T|RRBP1_uc002wpw.1_Silent_p.T323T|RRBP1_uc010gcl.1_Silent_p.T97T|RRBP1_uc010gcm.1_5'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	756	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCTGCACAGCCGTGATCTCCT	0.637													T	17617291	C	T	17617291	2	4	158	1	0	0	0	0	0	0	0	1	13678	639	23	1		1	RRBP1	20	17617291	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	9008289	17617291	45408229	2788	86569											
SLC24A3	57419	broad.mit.edu	37	chr20	19665750	19665750	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctttccagagacaaAgattgataaacagcagggct	8	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:19665750A>T	uc002wrl.2	+	12	1266	c.1069A>T	c.(1069-1071)AGA>TGA	p.R357*		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CCAGAGACAAAGATTGATAAA	0.502													T	19665750	A	T	19665750	4	4	158	1	0	0	0	0	0	1	0	0	14467	64	3	5	1115	5	SLC24A3	20	19665750	Nonsense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2048459	19665750	43359770	2789	86570											
RIN2	54453	broad.mit.edu	37	chr20	19981514	19981514	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttccactttgtctacaaAcgcatcaagaacgatcctta	4	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:19981514A>G	uc002wro.1	+	11	2658	c.2622A>G	c.(2620-2622)AAA>AAG	p.K874K	RIN2_uc010gcu.1_Silent_p.K441K|RIN2_uc010gcv.1_Silent_p.K668K	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	874	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						TTGTCTACAAACGCATCAAGA	0.527													G	19981514	A	G	19981514	2	3	158	1	0	0	0	0	0	0	0	1	13372	40	2	3		3	RIN2	20	19981514	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	315764	19981514	43044006	2790	86571											
RALGAPA2	57186	broad.mit.edu	37	chr20	20453589	20453589	+	Frame_Shift_Del	DEL	A	A	-													gctccatcaaacagaggcccAaaaaatggaacctgttgatt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:20453588_20453588CA>C	uc002wrz.3	-	36	5523	c.5380_5380TG>G	c.(5380-5382)gggfs	p.G1794fs	RALGAPA2_uc002wry.3_Frame_Shift_Del_p.G1409fs|RALGAPA2_uc010zsg.2_Frame_Shift_Del_p.G1242fs|RALGAPA2_uc002wsa.1_Frame_Shift_Del_p.G566fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1794	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization 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						AACAGAGGCCCAAAAAATGGA	0.448													-	20453589	A	-	20453589	7	5	158	1	0	1	0	1	0	0	0	0	13014	127	5	0	254	0	RALGAPA2	20	20453589	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	472075	20453589	42571931	2791	86572											
XRN2	22803	broad.mit.edu	37	chr20	21307218	21307218	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaagaccaagaagacttctCtacatggcaatagatggagt	10	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:21307218C>A	uc002wsf.1	+	3	389	c.294C>A	c.(292-294)CTC>CTA	p.L98L	XRN2_uc002wsg.1_Silent_p.L22L|XRN2_uc010zsk.1_Silent_p.L44L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	98					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			skin(1)	1						GAAGACTTCTCTACATGGCAA	0.348													A	21307218	C	A	21307218	2	1	158	1	0	0	0	0	0	0	0	1	17457	900	32	5		5	XRN2	20	21307218	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	853629	21307218	41718302	2792	86573											
PAX1	5075	broad.mit.edu	37	chr20	21687127	21687127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgtgttcgtcaacggccGccccctgcccaacgccatcc	10	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:21687127G>A	uc002wsj.2	+	2	392	c.338G>A	c.(337-339)CGC>CAC	p.R113H	PAX1_uc010zsl.1_Missense_Mutation_p.R113H|PAX1_uc010zsm.1_Missense_Mutation_p.R89H	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	113	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GTCAACGGCCGCCCCCTGCCC	0.662													A	21687127	G	A	21687127	3	1	158	1	0	0	0	0	1	0	0	0	11478	1087	38	1	344	1	PAX1	20	21687127	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	379909	21687127	41338393	2793	86574											
PAX1	5075	broad.mit.edu	37	chr20	21689942	21689942	+	Frame_Shift_Del	DEL	C	C	-													ccagcacggcgtgtacagcgCcccgggcggcggctacctcg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:21689941_21689941GC>G	uc002wsj.2	+	3	1195	c.1141_1141GC>G	c.(1141-1143)gccfs	p.A381fs	PAX1_uc010zsl.2_Frame_Shift_Del_p.A381fs|PAX1_uc010zsm.2_Frame_Shift_Del_p.A357fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	381					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						CGTGTACAGCGCCCCGGGCGG	0.756													-	21689942	C	-	21689942	7	5	158	1	0	1	0	1	0	0	0	0	11478	739	26	0	1156	0	PAX1	20	21689942	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	2815	21689942	41335578	2794	86575											
FOXA2	3170	broad.mit.edu	37	chr20	22563630	22563630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccgggggacatccccgCcagggacgggctcatgccag	16	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:22563630C>A	uc002wsn.2	-	3	422	c.232G>T	c.(232-234)GCG>TCG	p.A78S	FOXA2_uc002wsm.2_Missense_Mutation_p.A84S	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	78	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			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					GACATCCCCGCCAGGGACGGG	0.751													A	22563630	C	A	22563630	3	1	158	1	0	0	0	0	1	0	0	0	5990	739	26	5	1145	5	FOXA2	20	22563630	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	873688	22563630	40461890	2795	86576											
ENTPD6	955	broad.mit.edu	37	chr20	25187205	25187205	+	Frame_Shift_Del	DEL	A	A	-													atccgttatgaaacttccagAaaaacgagctacatttttca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:25187204_25187204GA>G	uc002wuj.2	+	1	212	c.32_32GA>G	c.(31-33)agafs	p.R11fs	ENTPD6_uc010zsy.1_Frame_Shift_Del_p.R11fs|ENTPD6_uc010gdj.1_Intron|ENTPD6_uc002wum.2_Intron|ENTPD6_uc010zta.1_Frame_Shift_Del_p.R11fs|ENTPD6_uc002wuk.2_Frame_Shift_Del_p.R11fs|ENTPD6_uc002wul.2_Frame_Shift_Del_p.R11fs|ENTPD6_uc010ztb.1_Intron|ENTPD6_uc010ztc.1_Intron|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	11						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GAAACTTCCAGAAAAACGAGC	0.393													-	25187205	A	-	25187205	7	5	158	1	0	1	0	1	0	0	0	0	5143	243	9	0	42	0	ENTPD6	20	25187205	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	2623575	25187205	37838315	2796	86577											
NINL	22981	broad.mit.edu	37	chr20	25462724	25462724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgcagctcatcgttgcGgtcctgcaggtcctgtgggg	15	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:25462724G>A	uc002wux.1	-	14	1764	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C	NINL_uc010gdn.1_Missense_Mutation_p.R564C|NINL_uc010gdo.1_Missense_Mutation_p.R347C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	564	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCATCGTTGCGGTCCTGCAGG	0.682													A	25462724	G	A	25462724	3	1	158	1	0	0	0	0	1	0	0	0	10420	1116	39	1	2502	1	NINL	20	25462724	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	275519	25462724	37562796	2797	86578											
TM9SF4	9777	broad.mit.edu	37	chr20	30729426	30729426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgacagtggagcagagccGactcgtggccgagcggatca	15	12	1	2	rs139891092		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:30729426G>A	uc002wxj.2	+	4	591	c.356G>A	c.(355-357)CGA>CAA	p.R119Q	TM9SF4_uc010ztr.1_Missense_Mutation_p.R45Q|TM9SF4_uc010zts.1_Missense_Mutation_p.R26Q|TM9SF4_uc002wxk.2_Missense_Mutation_p.R102Q|TM9SF4_uc010gdz.2_Missense_Mutation_p.R26Q	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	119						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCAGAGCCGACTCGTGGCC	0.577													A	30729426	G	A	30729426	3	1	158	1	0	0	0	0	1	0	0	0	15977	1058	37	1	370	1	TM9SF4	20	30729426	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	5266702	30729426	32296094	2798	86579											
KIF3B	9371	broad.mit.edu	37	chr20	30904370	30904370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcaacagatggaaagtcGagatgaggagaccttggaac	13	8	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:30904370G>A	uc002wxq.2	+	4	1714	c.1547G>A	c.(1546-1548)CGA>CAA	p.R516Q	KIF3B_uc010ztw.1_Missense_Mutation_p.R454Q	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	516	Potential.				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			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGGAAAGTCGAGATGAGGAG	0.443													A	30904370	G	A	30904370	3	1	158	1	0	0	0	0	1	0	0	0	8301	1058	37	1	1557	1	KIF3B	20	30904370	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	174944	30904370	32121150	2799	86580											
DNMT3B	1789	broad.mit.edu	37	chr20	31376725	31376725	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggcttctcctggtggccCgccatggtggtgtcttggaa	15	10	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:31376725C>A	uc002wyc.2	+	7	1041	c.720C>A	c.(718-720)CCC>CCA	p.P240P	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.P240P|DNMT3B_uc002wye.2_Silent_p.P240P|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.P198P|DNMT3B_uc010zua.1_Silent_p.P164P|DNMT3B_uc002wyf.2_Silent_p.P252P|DNMT3B_uc002wyg.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	240	PWWP.|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			lung(3)|ovary(2)	5						CCTGGTGGCCCGCCATGGTGG	0.567													A	31376725	C	A	31376725	2	1	158	1	0	0	0	0	0	0	0	1	4677	639	23	5		5	DNMT3B	20	31376725	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	472355	31376725	31648795	2800	86581											
C20orf185	359710	broad.mit.edu	37	chr20	31643231	31643231	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgctccttataggcaTgcagccagtcatgctggccc	9	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:31643231T>C	uc002wym.1	+	1	2	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	1					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						CTTATAGGCATGCAGCCAGTC	0.602													C	31643231	T	C	31643231	3	2	158	1	0	0	0	0	1	0	0	0	2097	1478	51	3	4	3	C20orf185	20	31643231	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	266506	31643231	31382289	2801	86582											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31980017	31980017	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggctttaagctgatgtaAacggttccagatggtctgct	11	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:31980017A>G	uc010gek.2	-	5	599	c.475T>C	c.(475-477)TTA>CTA	p.L159L	CDK5RAP1_uc002wyy.2_Silent_p.L69L|CDK5RAP1_uc002wyz.2_Silent_p.L159L|CDK5RAP1_uc002wza.2_Silent_p.L159L|CDK5RAP1_uc010gel.2_Silent_p.L68L|CDK5RAP1_uc010gem.2_Silent_p.L159L|CDK5RAP1_uc002wzc.1_Silent_p.L159L|CDK5RAP1_uc010gen.2_Silent_p.L159L	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	159	MTTase N-terminal.				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			ovary(2)|skin(2)|lung(1)	5						AGCTGATGTAAACGGTTCCAG	0.473													G	31980017	A	G	31980017	2	3	158	1	0	0	0	0	0	0	0	1	3145	11	1	3		3	CDK5RAP1	20	31980017	Silent	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	336786	31980017	31045503	2802	86583											
E2F1	1869	broad.mit.edu	37	chr20	32265335	32265335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgaaggtcctgacacgtcAcgtaggccagggttggcaga	14	10	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:32265335A>G	uc002wzu.3	-	5	877	c.737T>C	c.(736-738)GTG>GCG	p.V246A		NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	246	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				0						CTGACACGTCACGTAGGCCAG	0.567													G	32265335	A	G	32265335	3	3	158	1	0	0	0	0	1	0	0	0	4866	159	6	3	588	3	E2F1	20	32265335	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	285318	32265335	30760185	2803	86584											
ITCH	83737	broad.mit.edu	37	chr20	33030037	33030037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagagagtggaccagcaCgggcgagtttactatgtaga	15	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:33030037C>T	uc010geu.1	+	11	1209	c.1017C>T	c.(1015-1017)CAC>CAT	p.H339H	ITCH_uc002xak.2_Silent_p.H298H|ITCH_uc010zuj.1_Silent_p.H188H	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	339	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TGGACCAGCACGGGCGAGTTT	0.378													T	33030037	C	T	33030037	2	4	158	1	0	0	0	0	0	0	0	1	7868	535	19	1		1	ITCH	20	33030037	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	764702	33030037	29995483	2804	86585											
NCOA6	23054	broad.mit.edu	37	chr20	33345723	33345723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgttgttgCtgctgctgctgctgctgctg	14	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:33345723C>T	uc002xav.2	-	8	3399	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	NCOA6_uc002xaw.2_Silent_p.Q276Q|NCOA6_uc010gew.1_Silent_p.Q233Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						gctgttgttgctgctgctgct	0.313													T	33345723	C	T	33345723	2	4	158	1	0	0	0	0	0	0	0	1	10233	796	28	2		2	NCOA6	20	33345723	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	315686	33345723	29679797	2805	86586											
CEP250	11190	broad.mit.edu	37	chr20	34084485	34084485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattcgacaacaagagctgAgtgccctgcgccaggacatg	11	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34084485A>G	uc002xcm.2	+	26	3918	c.3247A>G	c.(3247-3249)AGT>GGT	p.S1083G	CEP250_uc010zve.1_Missense_Mutation_p.S451G	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1083	Gln/Glu-rich.|Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACAAGAGCTGAGTGCCCTGCG	0.517													G	34084485	A	G	34084485	3	3	158	1	0	0	0	0	1	0	0	0	3252	304	11	3	3333	3	CEP250	20	34084485	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	738762	34084485	28941035	2806	86587											
SPAG4	6676	broad.mit.edu	37	chr20	34208807	34208807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccccagaatgaccccCcagctgcctttcccaaggtg	8	17	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34208807C>T	uc002xdb.1	+	12	1294	c.1177C>T	c.(1177-1179)CCA>TCA	p.P393S	SPAG4_uc010zvi.1_Missense_Mutation_p.P316S	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	393	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GAATGACCCCCCAGCTGCCTT	0.582													T	34208807	C	T	34208807	3	4	158	1	0	0	0	0	1	0	0	0	14980	623	22	4	1223	4	SPAG4	20	34208807	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	124322	34208807	28816713	2807	86588											
RBM12	10137	broad.mit.edu	37	chr20	34241803	34241803	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagccttatagtcagccTcatttctgaactctacaaag	7	11	4	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34241803T>G	uc002xdq.2	-	3	1674	c.1442A>C	c.(1441-1443)GAG>GCG	p.E481A	CPNE1_uc010zvj.1_5'UTR|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.E481A|RBM12_uc002xds.2_Missense_Mutation_p.E481A	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	481	RRM 2.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATAGTCAGCCTCATTTCTGAA	0.373											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	34241803	T	G	34241803	3	3	158	1	0	0	0	0	1	0	0	0	13113	1551	54	5	1360	5	RBM12	20	34241803	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	32996	34241803	28783717	2808	86589											
PHF20	51230	broad.mit.edu	37	chr20	34435307	34435307	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggtccttgcttgctgGtctgattgtcgtttttaccc	11	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34435307G>A	uc002xek.1	+	4	402	c.291G>A	c.(289-291)TGG>TGA	p.W97*	PHF20_uc002xei.1_Nonsense_Mutation_p.W97*|PHF20_uc010gfo.1_Nonsense_Mutation_p.W97*|PHF20_uc002xej.1_Missense_Mutation_p.G8D|PHF20_uc002xel.1_5'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TTGCTTGCTGGTCTGATTGTC	0.388													A	34435307	G	A	34435307	4	1	158	1	0	0	0	0	0	1	0	0	11831	1270	44	4	301	4	PHF20	20	34435307	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	193504	34435307	28590213	2809	86590											
DLGAP4	22839	broad.mit.edu	37	chr20	35075283	35075283	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggacagtgtctccctgCagtccctctccccaccgccc	9	19	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35075283C>T	uc002xff.2	+	7	2026	c.1591C>T	c.(1591-1593)CAG>TAG	p.Q531*	DLGAP4_uc010zvp.1_Nonsense_Mutation_p.Q531*	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	531					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGTCTCCCTGCAGTCCCTCTC	0.602													T	35075283	C	T	35075283	4	4	158	1	0	0	0	0	0	1	0	0	4562	711	25	2	1609	2	DLGAP4	20	35075283	Nonsense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	639976	35075283	27950237	2810	86591											
C20orf117	140710	broad.mit.edu	37	chr20	35444037	35444037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggaggcgaggtcacagCgctggaggttggagaggagc	21	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35444037C>T	uc002xgd.1	-	5	1421	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	365											0		Myeloproliferative disorder(115;0.00874)				GAGGTCACAGCGCTGGAGGTT	0.677													T	35444037	C	T	35444037	3	4	158	1	0	0	0	0	1	0	0	0	2083	768	27	1	3283	1	C20orf117	20	35444037	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	368754	35444037	27581483	2811	86592											
C20orf117	140710	broad.mit.edu	37	chr20	35467741	35467741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcggcaggtcttgctgGcctggtccagctgctgtcgc	16	12	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35467741G>A	uc002xgd.1	-	2	404	c.77C>T	c.(76-78)GCC>GTC	p.A26V		NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	26											0		Myeloproliferative disorder(115;0.00874)				GGTCTTGCTGGCCTGGTCCAG	0.652													A	35467741	G	A	35467741	3	1	158	1	0	0	0	0	1	0	0	0	2083	1203	42	2	4312	2	C20orf117	20	35467741	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	23704	35467741	27557779	2812	86593											
RBL1	5933	broad.mit.edu	37	chr20	35627182	35627182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgatttgctctttcacTgacaacatcctgtagtcgtt	6	9	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35627182T>G	uc002xgi.2	-	22	3266	c.3187A>C	c.(3187-3189)AGT>CGT	p.S1063R	RBL1_uc010zvt.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	1063					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GCTCTTTCACTGACAACATCC	0.403													G	35627182	T	G	35627182	3	3	158	1	0	0	0	0	1	0	0	0	13109	1580	55	5	23	5	RBL1	20	35627182	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	159441	35627182	27398338	2813	86594											
RBL1	5933	broad.mit.edu	37	chr20	35717480	35717480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggaataatgcttttgcGgcatgcaacatataatgaac	10	7	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35717480G>A	uc002xgi.2	-	2	281	c.202C>T	c.(202-204)CGC>TGC	p.R68C	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.R68C|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	68					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ATGCTTTTGCGGCATGCAACA	0.383													A	35717480	G	A	35717480	3	1	158	1	0	0	0	0	1	0	0	0	13109	1116	39	1	3097	1	RBL1	20	35717480	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	90298	35717480	27308040	2814	86595											
C20orf132	140699	broad.mit.edu	37	chr20	35800369	35800369	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatcagtttctcaacaatGgcctcactgagcgggtcctg	11	11	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35800369G>T	uc010zvu.1	-	6	592	c.501C>A	c.(499-501)GCC>GCA	p.A167A	C20orf132_uc002xgm.2_Silent_p.A167A|C20orf132_uc002xgn.2_Silent_p.A167A	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	77											0		Myeloproliferative disorder(115;0.00878)				TCTCAACAATGGCCTCACTGA	0.473													T	35800369	G	T	35800369	2	4	158	1	0	0	0	0	0	0	0	1	2086	1335	47	5		5	C20orf132	20	35800369	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	82889	35800369	27225151	2815	86596											
KIAA0406	9675	broad.mit.edu	37	chr20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-													gaaggctctaagcactgccaGgggggcgtcccgtgtgagtc					rs149568606		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:36627613delG	uc002xhl.2	-	6	2979	c.2770delC	c.(2770-2772)CTGfs	p.L924fs	KIAA0406_uc002xhm.2_Frame_Shift_Del_p.L924fs	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	924							binding				0		Myeloproliferative disorder(115;0.00874)				AGCACTGCCAGGGGGGCGTCC	0.577													-	36627613	G	-	36627613	7	5	158	1	0	1	0	1	0	0	0	0	8173	991	35	0	515	0	KIAA0406	20	36627613	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	827244	36627613	26397907	2816	86597											
TGM2	7052	broad.mit.edu	37	chr20	36767984	36767984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacctccgcaaagacaaagGgcgcatcgtacttggtgctc	11	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:36767984G>T	uc002xhr.2	-	9	1272	c.1172C>A	c.(1171-1173)CCC>CAC	p.P391H	TGM2_uc010zvx.1_Missense_Mutation_p.P310H|TGM2_uc010zvy.1_Missense_Mutation_p.P331H|TGM2_uc002xhs.1_Missense_Mutation_p.P367H|TGM2_uc002xht.2_Missense_Mutation_p.P391H	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	391					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AAAGACAAAGGGCGCATCGTA	0.577													T	36767984	G	T	36767984	3	4	158	1	0	0	0	0	1	0	0	0	15827	1232	43	5	943	5	TGM2	20	36767984	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	140371	36767984	26257536	2817	86598											
ACTR5	79913	broad.mit.edu	37	chr20	37378728	37378728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcaaatgatgtctgagCttctttttgagtgctacggg	12	8	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:37378728C>T	uc002xjd.2	+	2	476	c.451C>T	c.(451-453)CTT>TTT	p.L151F		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	151					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				0		Myeloproliferative disorder(115;0.00878)				GATGTCTGAGCTTCTTTTTGA	0.453													T	37378728	C	T	37378728	3	4	158	1	0	0	0	0	1	0	0	0	215	797	28	2	457	2	ACTR5	20	37378728	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	610744	37378728	25646792	2818	86599											
PLCG1	5335	broad.mit.edu	37	chr20	39791294	39791294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcaggacctggagcagCgcagcggggacatcacctac	13	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:39791294C>T	uc002xjp.1	+	6	731	c.610C>T	c.(610-612)CGC>TGC	p.R204C	PLCG1_uc002xjo.1_Missense_Mutation_p.R204C|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	204					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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CCTGGAGCAGCGCAGCGGGGA	0.627													T	39791294	C	T	39791294	3	4	158	1	0	0	0	0	1	0	0	0	12035	768	27	1	632	1	PLCG1	20	39791294	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2412566	39791294	23234226	2819	86600											
LPIN3	64900	broad.mit.edu	37	chr20	39987432	39987432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccccagcacagacctgGccaaccctgaatacagtaac	9	15	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:39987432G>A	uc002xjx.2	+	20	2573	c.2482G>A	c.(2482-2484)GCC>ACC	p.A828T	LPIN3_uc010ggh.2_Missense_Mutation_p.A829T|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	828					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				CACAGACCTGGCCAACCCTGA	0.627													A	39987432	G	A	39987432	3	1	158	1	0	0	0	0	1	0	0	0	8920	1203	42	2	2556	2	LPIN3	20	39987432	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	196138	39987432	23038088	2820	86601											
PTPRT	11122	broad.mit.edu	37	chr20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-													ccactatgggcccagcttccGgggggttgaggaacttgacc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:40739003delG	uc002xkg.2	-	23	3408	c.3224delC	c.(3223-3225)CCGfs	p.P1075fs	PTPRT_uc010ggj.2_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.2_Frame_Shift_Del_p.P278fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1075	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCAGCTTCCGGGGGGTTGAG	0.453													-	40739003	G	-	40739003	7	5	158	1	0	1	0	1	0	0	0	0	12812	1116	39	0	1137	0	PTPRT	20	40739003	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	751571	40739003	22286517	2821	86602											
L3MBTL	26013	broad.mit.edu	37	chr20	42159475	42159476	+	Missense_Mutation	DNP	GC	GC	AA													ttcagctggagccagtacctGcgcagcacaagagctcaggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42159475_42159476GC>AA	uc010zwh.1	+	11	1210_1211	c.1164_1165GC>AA	c.(1162-1167)CTGCGC>CTAAGC	p.R389S	L3MBTL_uc002xkl.2_Missense_Mutation_p.R321S|L3MBTL_uc002xkm.2_Missense_Mutation_p.R321S|L3MBTL_uc010ggl.2_Missense_Mutation_p.R321S|L3MBTL_uc002xkn.1_Missense_Mutation_p.R80S|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	321	MBT 2.			LR -> MC (in Ref. 1; AAC69438).	chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCAGTACCTGCGCAGCACAAG	0.624													AA	42159476	GC	AA	42159475	3	1	158	1	0	0	0	0	1	0	0	0	8591	1306	46	2	990	2	L3MBTL	20	42159475	Missense_Mutation	DNP	GC	TCGA-CD-A4MG-01A-11D-A25D-08	1420472	42159475	20866045	2822	86603											
MYBL2	4605	broad.mit.edu	37	chr20	42311496	42311496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatccagaccttgtcaaGgggccatggaccaaagagga	12	9	1	3	rs67565959		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42311496G>T	uc002xlb.1	+	4	464	c.249G>T	c.(247-249)AAG>AAT	p.K83N	MYBL2_uc010zwj.1_Missense_Mutation_p.K59N|MYBL2_uc002xla.1_Missense_Mutation_p.K83N	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	83	HTH myb-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTTGTCAAGGGGCCATGGA	0.502													T	42311496	G	T	42311496	3	4	158	1	0	0	0	0	1	0	0	0	10010	991	35	5	263	5	MYBL2	20	42311496	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	152021	42311496	20714024	2823	86604											
MYBL2	4605	broad.mit.edu	37	chr20	42315578	42315578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctggggaagcagtgccgTgaacgctggcacaaccacct	14	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42315578T>C	uc002xlb.1	+	5	581	c.366T>C	c.(364-366)CGT>CGC	p.R122R	MYBL2_uc010zwj.1_Silent_p.R98R|MYBL2_uc002xla.1_Silent_p.R122R	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	122	H-T-H motif (By similarity).|HTH myb-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGCAGTGCCGTGAACGCTGGC	0.572													C	42315578	T	C	42315578	2	2	158	1	0	0	0	0	0	0	0	1	10010	1683	59	3		3	MYBL2	20	42315578	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4082	42315578	20709942	2824	86605											
MYBL2	4605	broad.mit.edu	37	chr20	42320926	42320926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagctcgaggacaaggaCggcctccagagtgcccagcc	14	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42320926C>T	uc002xlb.1	+	6	845	c.630C>T	c.(628-630)GAC>GAT	p.D210D	MYBL2_uc010zwj.1_Silent_p.D186D|MYBL2_uc002xla.1_Silent_p.D210D	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGGACAAGGACGGCCTCCAGA	0.542													T	42320926	C	T	42320926	2	4	158	1	0	0	0	0	0	0	0	1	10010	535	19	1		1	MYBL2	20	42320926	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5348	42320926	20704594	2825	86606											
WISP2	8839	broad.mit.edu	37	chr20	43355771	43355771	+	Frame_Shift_Del	DEL	C	C	-													tcttccctgccccctggtgtCccctgcccagaatggagcac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:43355771delC	uc002xmn.2	+	5	929	c.576delC	c.(574-576)GTCfs	p.V192fs	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Frame_Shift_Del_p.V192fs|WISP2_uc002xmq.2_Frame_Shift_Del_p.S110fs	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	192					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCTGGTGTCCCCTGCCCAG	0.502													-	43355771	C	-	43355771	7	5	158	1	0	1	0	1	0	0	0	0	17370	842	30	0	590	0	WISP2	20	43355771	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1034845	43355771	19669749	2826	86607											
WFDC5	149708	broad.mit.edu	37	chr20	43739149	43739149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatggggctgaggcagcGcagttggtcctctgggcagc	17	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:43739149G>A	uc002xne.1	-	3	338	c.259C>T	c.(259-261)CGC>TGC	p.R87C		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5 precursor	87	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTGAGGCAGCGCAGTTGGTCC	0.632													A	43739149	G	A	43739149	3	1	158	1	0	0	0	0	1	0	0	0	17351	1087	38	1	120	1	WFDC5	20	43739149	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	383378	43739149	19286371	2827	86608											
PI3	5266	broad.mit.edu	37	chr20	43804672	43804672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattatcttgatccggtgcGccatgttgaatccccctaac	7	14	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:43804672G>A	uc002xng.2	+	2	274	c.250G>A	c.(250-252)GCC>ACC	p.A84T		NM_002638	NP_002629	P19957	ELAF_HUMAN	elafin preproprotein	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512													A	43804672	G	A	43804672	3	1	158	1	0	0	0	0	1	0	0	0	11870	1087	38	1	256	1	PI3	20	43804672	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	65523	43804672	19220848	2828	86609											
PIGT	51604	broad.mit.edu	37	chr20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-													gatatttctttacacagaggCccccccagtgcccttcctgc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44050025_44050025GC>G	uc002xoh.2	+	8	1126	c.1036_1036GC>G	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Del_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Del_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Del_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Del_p.A22fs	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	346					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	p.A346A(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGT	0.572													-	44050026	C	-	44050026	7	5	158	1	0	1	0	1	0	0	0	0	11899	739	26	0	1071	0	PIGT	20	44050026	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	245354	44050026	18975494	2829	86610											
WFDC10A	140832	broad.mit.edu	37	chr20	44258522	44258522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggcccagggaggatacCgtgacaagaagaggatgcag	16	8	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44258522C>T	uc002xoz.2	+	1	138	c.70C>T	c.(70-72)CGT>TGT	p.R24C	WFDC9_uc002xoy.2_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A precursor	24						extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				GGGAGGATACCGTGACAAGAA	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44258522	C	T	44258522	3	4	158	1	0	0	0	0	1	0	0	0	17344	652	23	1	72	1	WFDC10A	20	44258522	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	208496	44258522	18766998	2830	86611											
ZSWIM1	90204	broad.mit.edu	37	chr20	44511611	44511611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacactgaaggcctggcccAgatgttccaagtattcaaga	11	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44511611A>G	uc010ghi.2	+	2	493	c.380A>G	c.(379-381)CAG>CGG	p.Q127R	ZSWIM1_uc010zxh.1_5'UTR	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	127							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				GGCCTGGCCCAGATGTTCCAA	0.537													G	44511611	A	G	44511611	3	3	158	1	0	0	0	0	1	0	0	0	18237	188	7	3	382	3	ZSWIM1	20	44511611	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	253089	44511611	18513909	2831	86612											
ZNF335	63925	broad.mit.edu	37	chr20	44596969	44596969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaccgtgtggtctcggcccCgccatcctcagcactggtca	11	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44596969C>A	uc002xqw.2	-	4	598	c.475G>T	c.(475-477)GGG>TGG	p.G159W	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.G127W|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GTCTCGGCCCCGCCATCCTCA	0.647													A	44596969	C	A	44596969	3	1	158	1	0	0	0	0	1	0	0	0	17849	652	23	5	3653	5	ZNF335	20	44596969	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	85358	44596969	18428551	2832	86613											
CDH22	64405	broad.mit.edu	37	chr20	44839080	44839080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgtccacgtcggtcacGgccacgcgcacgatcgcctg	13	17	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44839080G>A	uc002xrm.2	-	6	1553	c.1152C>T	c.(1150-1152)GCC>GCT	p.A384A	CDH22_uc010ghk.1_Silent_p.A384A|CDH22_uc002xrn.1_Silent_p.A135A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	384	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CGTCGGTCACGGCCACGCGCA	0.721													A	44839080	G	A	44839080	2	1	158	1	0	0	0	0	0	0	0	1	3107	1103	39	1		1	CDH22	20	44839080	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	242111	44839080	18186440	2833	86614											
CDH22	64405	broad.mit.edu	37	chr20	44879758	44879758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacccagccgcgtttgacgCggccggctcccagcgcgccg	13	19	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44879758C>T	uc002xrm.2	-	1	577	c.176G>A	c.(175-177)CGC>CAC	p.R59H	CDH22_uc010ghk.1_Missense_Mutation_p.R59H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	59	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCGTTTGACGCGGCCGGCTCC	0.622													T	44879758	C	T	44879758	3	4	158	1	0	0	0	0	1	0	0	0	3107	768	27	1	2354	1	CDH22	20	44879758	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	40678	44879758	18145762	2834	86615											
SLC13A3	64849	broad.mit.edu	37	chr20	45239100	45239100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgtgttctcttcacTctcctggctggggtcctttc	8	15	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:45239100T>G	uc002xsf.1	-	3	564	c.526A>C	c.(526-528)AGT>CGT	p.S176R	SLC13A3_uc010ghn.1_Missense_Mutation_p.S145R|SLC13A3_uc010zxw.1_Missense_Mutation_p.S176R|SLC13A3_uc002xsg.1_Missense_Mutation_p.S129R|SLC13A3_uc010gho.1_Missense_Mutation_p.S129R|SLC13A3_uc010zxx.1_Missense_Mutation_p.S78R|SLC13A3_uc002xsi.3_Missense_Mutation_p.S129R	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	176	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTCTCTTCACTCTCCTGGCTG	0.537													G	45239100	T	G	45239100	3	3	158	1	0	0	0	0	1	0	0	0	14393	1551	54	5	1326	5	SLC13A3	20	45239100	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	359342	45239100	17786420	2835	86616											
NCOA3	8202	broad.mit.edu	37	chr20	46265203	46265203	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacaagttgctgcagaaTgggaattcaccagctgaggt	12	8	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:46265203T>C	uc002xtk.2	+	12	2278	c.2073T>C	c.(2071-2073)AAT>AAC	p.N691N	NCOA3_uc010ght.1_Silent_p.N701N|NCOA3_uc002xtl.2_Silent_p.N691N|NCOA3_uc002xtm.2_Silent_p.N691N|NCOA3_uc002xtn.2_Silent_p.N691N|NCOA3_uc010zyc.1_Silent_p.N486N	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	691					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			ovary(3)|lung(1)|skin(1)	5						TGCTGCAGAATGGGAATTCAC	0.483													C	46265203	T	C	46265203	2	2	158	1	0	0	0	0	0	0	0	1	10230	1461	51	3		3	NCOA3	20	46265203	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1026103	46265203	16760317	2836	86617											
FAM65C	140876	broad.mit.edu	37	chr20	49209604	49209604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtgaagtgcttctccAggtcagagacgctctgcctc	13	12	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:49209604A>G	uc002xvm.2	-	18	2648	c.2330T>C	c.(2329-2331)CTG>CCG	p.L777P	FAM65C_uc010zyt.1_Missense_Mutation_p.L781P|FAM65C_uc010zyu.1_RNA	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	777										ovary(2)	2						GTGCTTCTCCAGGTCAGAGAC	0.567													G	49209604	A	G	49209604	3	3	158	1	0	0	0	0	1	0	0	0	5601	188	7	3	530	3	FAM65C	20	49209604	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	2944401	49209604	13815916	2837	86618											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400984	+	Frame_Shift_Ins	INS	-	-	C													gaaaccgggagggtaggaacINSccccccactctggatcacag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:50400982_50400983A>AC	uc002xwh.4	-	3	3084_3085	c.2983_2984T>GT	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Ins_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Ins_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					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						GAGGGTAGGAACCCCCCCACTC	0.559													C	50400984	-	C	50400983	7	5	158	1	0	1	1	0	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	1191379	50400983	12624537	2838	86619											
SALL4	57167	broad.mit.edu	37	chr20	50407921	50407921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtttgacatccaccgcGgagatgttcggtggcttccc	13	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:50407921G>A	uc002xwh.3	-	2	1202	c.1101C>T	c.(1099-1101)TCC>TCT	p.S367S	SALL4_uc010gii.2_Silent_p.S367S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	367					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CATCCACCGCGGAGATGTTCG	0.562													A	50407921	G	A	50407921	2	1	158	1	0	0	0	0	0	0	0	1	13813	1103	39	1		1	SALL4	20	50407921	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6938	50407921	12617599	2839	86620											
MC3R	4159	broad.mit.edu	37	chr20	54824308	54824308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatctgcaacctcctgGccatcgccgtcgacaggtac	8	18	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:54824308G>A	uc002xxb.2	+	1	521	c.409G>A	c.(409-411)GCC>ACC	p.A137T		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	174	Helical; Name=3; (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CAACCTCCTGGCCATCGCCGT	0.567													A	54824308	G	A	54824308	3	1	158	1	0	0	0	0	1	0	0	0	9365	1203	42	2	411	2	MC3R	20	54824308	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4416387	54824308	8201212	2840	86621											
MC3R	4159	broad.mit.edu	37	chr20	54824600	54824600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacggggtggccccacagcAacactcatgcatgaaggggg	15	12	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:54824600A>G	uc002xxb.2	+	1	813	c.701A>G	c.(700-702)CAA>CGA	p.Q234R		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	271	Cytoplasmic (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			GCCCCACAGCAACACTCATGC	0.607													G	54824600	A	G	54824600	3	3	158	1	0	0	0	0	1	0	0	0	9365	130	5	3	703	3	MC3R	20	54824600	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	292	54824600	8200920	2841	86622											
CSTF1	1477	broad.mit.edu	37	chr20	54978601	54978601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggactatgtgttgctgcccGacgagaggacgatcagtctt	13	9	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:54978601G>A	uc002xxl.1	+	6	1314	c.1114G>A	c.(1114-1116)GAC>AAC	p.D372N	CSTF1_uc002xxm.1_Missense_Mutation_p.D372N|CSTF1_uc002xxn.1_Missense_Mutation_p.D372N|CSTF1_uc002xxo.1_Missense_Mutation_p.D315N	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	372					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			GTTGCTGCCCGACGAGAGGAC	0.572													A	54978601	G	A	54978601	3	1	158	1	0	0	0	0	1	0	0	0	3983	1058	37	1	1132	1	CSTF1	20	54978601	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	154001	54978601	8046919	2842	86623											
APCDD1L	164284	broad.mit.edu	37	chr20	57042694	57042694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgcgggtcaggaactccGgtcctgggcgcacctcgcag	16	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57042694G>T	uc002xze.1	-	3	395	c.209C>A	c.(208-210)CCG>CAG	p.P70Q	APCDD1L_uc010zzp.1_Missense_Mutation_p.P81Q	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	70						integral to membrane				ovary(1)	1	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)			CAGGAACTCCGGTCCTGGGCG	0.682													T	57042694	G	T	57042694	3	4	158	1	0	0	0	0	1	0	0	0	766	1116	39	5	1304	5	APCDD1L	20	57042694	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2064093	57042694	5982826	2843	86624											
GNAS	2778	broad.mit.edu	37	chr20	57429596	57429596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgactccggggcattcGcagccgatcccgactccggg	12	16	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57429596G>A	uc002xzw.2	+	1	1561	c.1276G>A	c.(1276-1278)GCA>ACA	p.A426T	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGGGGCATTCGCAGCCGATCC	0.751			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57429596	G	A	57429596	3	1	158	1	0	0	0	0	1	0	0	0	6510	1087	38	1	2020	1	GNAS	20	57429596	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	386902	57429596	5595924	2844	86625											
ZNF831	128611	broad.mit.edu	37	chr20	57766741	57766741	+	Frame_Shift_Del	DEL	C	C	-													aaggggacaaggccggagagCcccccagaccagagggcagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57766740_57766740GC>G	uc002yan.3	+	0	666	c.666_666GC>G	c.(664-666)gagfs	p.E222fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	222						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)					AGGCCGGAGAGCCCCCCAGAC	0.701													-	57766741	C	-	57766741	7	5	158	1	0	1	0	1	0	0	0	0	18182	739	26	0	669	0	ZNF831	20	57766741	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	337145	57766741	5258779	2845	86626											
ZNF831	128611	broad.mit.edu	37	chr20	57768027	57768027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggaggtgggaatgggCagtggggcagaactgggctt	21	6	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57768027C>T	uc002yan.2	+	1	1953	c.1953C>T	c.(1951-1953)GGC>GGT	p.G651G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	651						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TGGGAATGGGCAGTGGGGCAG	0.562													T	57768027	C	T	57768027	2	4	158	1	0	0	0	0	0	0	0	1	18182	697	25	2		2	ZNF831	20	57768027	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1286	57768027	5257493	2846	86627											
ZNF831	128611	broad.mit.edu	37	chr20	57829279	57829279	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaacagatcacatagcCcaggaaattcacagtgctga	10	9	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57829279C>A	uc002yan.2	+	5	4515	c.4515C>A	c.(4513-4515)GCC>GCA	p.A1505A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1505						intracellular	nucleic acid binding|zinc ion binding	p.A1505V(1)		skin(13)|ovary(1)	14	all_lung(29;0.0085)					ATCACATAGCCCAGGAAATTC	0.512													A	57829279	C	A	57829279	2	1	158	1	0	0	0	0	0	0	0	1	18182	610	22	5		5	ZNF831	20	57829279	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	61252	57829279	5196241	2847	86628											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514123	58514123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctcttcgcactccccGcgaggcatgtgcagcgcgtg	12	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:58514123G>A	uc002ybb.2	-	1	1230	c.864C>T	c.(862-864)CGC>CGT	p.R288R	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	288					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGCACTCCCCGCGAGGCATGT	0.642													A	58514123	G	A	58514123	2	1	158	1	0	0	0	0	0	0	0	1	12374	1074	38	1		1	PPP1R3D	20	58514123	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	684844	58514123	4511397	2848	86629											
CDH26	60437	broad.mit.edu	37	chr20	58564020	58564020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtggagaatgaggagaGgctcgtcttctgtgagagag	17	5	2	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:58564020G>T	uc002ybe.2	+	9	1385	c.1085G>T	c.(1084-1086)AGG>ATG	p.R362M	CDH26_uc002ybf.1_Translation_Start_Site|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	362	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATGAGGAGAGGCTCGTCTTC	0.572													T	58564020	G	T	58564020	3	4	158	1	0	0	0	0	1	0	0	0	3110	1000	35	5	1119	5	CDH26	20	58564020	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	49897	58564020	4461500	2849	86630											
CDH4	1002	broad.mit.edu	37	chr20	60499482	60499482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgctggaccgtgagtcCctctacaccaaaaacaacgt	9	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:60499482C>T	uc002ybn.1	+	11	1733	c.1719C>T	c.(1717-1719)TCC>TCT	p.S573S	CDH4_uc002ybp.1_Silent_p.S499S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	573	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGTGAGTCCCTCTACACCA	0.622													T	60499482	C	T	60499482	2	4	158	1	0	0	0	0	0	0	0	1	3112	610	22	4		4	CDH4	20	60499482	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1935462	60499482	2526038	2850	86631											
SLCO4A1	28231	broad.mit.edu	37	chr20	61299422	61299422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggttttggccatgccaCtgcagggaaatgcacttcaa	10	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61299422C>T	uc002ydb.1	+	9	1902	c.1697C>T	c.(1696-1698)ACT>ATT	p.T566I	SLCO4A1_uc002ydc.1_Intron|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Intron	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	566	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GGCCATGCCACTGCAGGGAAA	0.473											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	61299422	C	T	61299422	3	4	158	1	0	0	0	0	1	0	0	0	14729	565	20	4	1727	4	SLCO4A1	20	61299422	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	799940	61299422	1726098	2851	86632											
OGFR	11054	broad.mit.edu	37	chr20	61444531	61444531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagcccatcggagaccCcaggccccagcccagcagga	13	17	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61444531C>A	uc002ydj.2	+	7	1599	c.1564C>A	c.(1564-1566)CCA>ACA	p.P522T	OGFR_uc002ydk.2_Missense_Mutation_p.P505T|OGFR_uc002ydl.2_Missense_Mutation_p.P470T|uc011aam.1_Missense_Mutation_p.G38W	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	522	1.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					ATCGGAGACCCCAGGCCCCAG	0.697													A	61444531	C	A	61444531	3	1	158	1	0	0	0	0	1	0	0	0	10843	623	22	5	1590	5	OGFR	20	61444531	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	145109	61444531	1580989	2852	86633											
COL9A3	1299	broad.mit.edu	37	chr20	61452877	61452878	+	Frame_Shift_Ins	INS	-	-	C													gggcaaaggcctccctggacINScccccgtgagtactgacaac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61452876_61452877A>AC	uc002ydm.3	+	6	366_367	c.363_364A>AC	c.(361-366)ggacccfs	p.G121fs		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	121	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)					GCCTCCCTGGACCCCCCGTGAG	0.649													C	61452878	-	C	61452877	7	5	158	1	0	1	1	0	0	0	0	0	3709	507	18	0	390	0	COL9A3	20	61452877	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	8346	61452877	1572643	2853	86634											
DIDO1	11083	broad.mit.edu	37	chr20	61512878	61512878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagctcttctagcatcTtctgttgctccaccagggag	9	12	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61512878T>G	uc002ydr.1	-	16	4694	c.4430A>C	c.(4429-4431)AAG>ACG	p.K1477T	DIDO1_uc002yds.1_Missense_Mutation_p.K1477T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1477					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TTCTAGCATCTTCTGTTGCTC	0.627													G	61512878	T	G	61512878	3	3	158	1	0	0	0	0	1	0	0	0	4522	1609	56	5	2296	5	DIDO1	20	61512878	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	60001	61512878	1512642	2854	86635											
SLC17A9	63910	broad.mit.edu	37	chr20	61595602	61595602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggatcttcaacgtggttcCttggttggtggcgattccgg	14	9	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61595602C>A	uc002yea.3	+	8	1029	c.845C>A	c.(844-846)CCT>CAT	p.P282H	SLC17A9_uc002ydz.3_Missense_Mutation_p.P276H|SLC17A9_uc011aap.1_Missense_Mutation_p.P302H	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	282	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						AACGTGGTTCCTTGGTTGGTG	0.607													A	61595602	C	A	61595602	3	1	158	1	0	0	0	0	1	0	0	0	14424	681	24	5	875	5	SLC17A9	20	61595602	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	82724	61595602	1429918	2855	86636											
COL20A1	57642	broad.mit.edu	37	chr20	61958164	61958164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaggacctccagggaccGtggggcccacagtaagtgca	15	12	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61958164G>A	uc011aau.1	+	31	3617	c.3517G>A	c.(3517-3519)GTG>ATG	p.V1173M	COL20A1_uc011aav.1_Missense_Mutation_p.V994M	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1173	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TCCAGGGACCGTGGGGCCCAC	0.622													A	61958164	G	A	61958164	3	1	158	1	0	0	0	0	1	0	0	0	3679	1145	40	1	3577	1	COL20A1	20	61958164	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	362562	61958164	1067356	2856	86637											
PPDPF	79144	broad.mit.edu	37	chr20	62153073	62153073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttctttttcgggaaGtccaccctcccgttcatggc	9	15	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62153073G>A	uc002yff.2	+	4	326	c.186G>A	c.(184-186)AAG>AAA	p.K62K		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and	62					cell differentiation|multicellular organismal development						0						TTTTCGGGAAGTCCACCCTCC	0.642													A	62153073	G	A	62153073	2	1	158	1	0	0	0	0	0	0	0	1	12306	1020	36	4		4	PPDPF	20	62153073	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	194909	62153073	872447	2857	86638											
ZBTB46	140685	broad.mit.edu	37	chr20	62421703	62421703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaagctcatctgaggcGtccgacttgatgctgatgtc	11	12	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62421703G>A	uc002ygv.1	-	2	609	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CATCTGAGGCGTCCGACTTGA	0.617													A	62421703	G	A	62421703	2	1	158	1	0	0	0	0	0	0	0	1	17544	1136	40	1		1	ZBTB46	20	62421703	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	268630	62421703	603817	2858	86639											
DNAJC5	80331	broad.mit.edu	37	chr20	62560749	62560749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagatcaacaacgcgcaCgccatcctcacggacgccac	9	16	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62560749C>T	uc002yhf.2	+	3	362	c.192C>T	c.(190-192)CAC>CAT	p.H64H	DNAJC5_uc002yhg.1_Silent_p.H64H|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	64	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACAACGCGCACGCCATCCTCA	0.547													T	62560749	C	T	62560749	2	4	158	1	0	0	0	0	0	0	0	1	4650	535	19	1		1	DNAJC5	20	62560749	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	139046	62560749	464771	2859	86640											
PRPF6	24148	broad.mit.edu	37	chr20	62631096	62631096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttatcatgaaggggaCggagatgtgccccaaggtga	14	8	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62631096C>T	uc002yho.2	+	8	1175	c.1007C>T	c.(1006-1008)ACG>ATG	p.T336M	PRPF6_uc002yhp.2_Missense_Mutation_p.T336M	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	336					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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGAAGGGGACGGAGATGTGC	0.552													T	62631096	C	T	62631096	3	4	158	1	0	0	0	0	1	0	0	0	12574	536	19	1	1037	1	PRPF6	20	62631096	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	70347	62631096	394424	2860	86641											
OPRL1	4987	broad.mit.edu	37	chr20	62729757	62729757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctacagcctcatgatcCggcggctccgtggagtccgc	12	15	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62729757C>T	uc002yic.2	+	5	1120	c.718C>T	c.(718-720)CGG>TGG	p.R240W	OPRL1_uc002yid.2_Missense_Mutation_p.R240W|OPRL1_uc002yif.3_Missense_Mutation_p.R235W	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	240	Cytoplasmic (Potential).				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)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCTCATGATCCGGCGGCTCCG	0.622													T	62729757	C	T	62729757	3	4	158	1	0	0	0	0	1	0	0	0	10886	643	23	1	728	1	OPRL1	20	62729757	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	98661	62729757	295763	2861	86642											
PCMTD2	55251	broad.mit.edu	37	chr20	62891437	62891437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagctatcgatcgtgcagActattatcttgaagaattta	8	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62891437A>G	uc002yil.3	+	2	319	c.119A>G	c.(118-120)GAC>GGC	p.D40G	PCMTD2_uc002yim.3_Missense_Mutation_p.D40G	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	40						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GATCGTGCAGACTATTATCTT	0.433													G	62891437	A	G	62891437	3	3	158	1	0	0	0	0	1	0	0	0	11587	275	10	3	121	3	PCMTD2	20	62891437	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	161680	62891437	134083	2862	86643											
BAGE2	85319	broad.mit.edu	37	chr21	11097627	11097627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcttggagcagctggGcagacaatgccagaaaaacc	13	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:11097627G>A	uc002yit.1	-	2	243	c.35C>T	c.(34-36)GCC>GTC	p.A12V	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			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)		gagcagctgggcagacaatgc	0.259													A	11097627	G	A	11097627	3	1	158	1	0	0	0	0	1	0	0	0	1292	1203	42	2	306	2	BAGE2	21	11097627	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		11097627	37032268	2863	86644											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653414	19653414	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcgttgtcctttcttcGcctattgtaatgagggttta	9	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:19653414G>A	uc002ykw.2	-	22	2642	c.2611C>T	c.(2611-2613)CGA>TGA	p.R871*		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	871	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TCCTTTCTTCGCCTATTGTAA	0.368													A	19653414	G	A	19653414	4	1	158	1	0	0	0	0	0	1	0	0	16243	1095	38	1	464	1	TMPRSS15	21	19653414	Nonsense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	8555787	19653414	28476481	2864	86645											
RNF160	26046	broad.mit.edu	37	chr21	30338713	30338713	+	Frame_Shift_Del	DEL	T	T	-													ttggttagatcatccaagacTttttttctttccatatcatt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:30338713delT	uc002ymr.2	-	10	2251	c.2238delA	c.(2236-2238)AAAfs	p.K746fs	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	700							ligase activity|zinc ion binding				0						CATCCAAGACTTTTTTTCTTT	0.363													-	30338713	T	-	30338713	7	5	158	1	0	1	0	1	0	0	0	0	13455	1606	56	0	3284	0	RNF160	21	30338713	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	10685299	30338713	17791182	2865	86646											
USP16	10600	broad.mit.edu	37	chr21	30419571	30419571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacccgtaatgagaaacttcGagatgcgaataaactgcttt	8	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:30419571G>A	uc002ymy.2	+	14	2142	c.1940G>A	c.(1939-1941)CGA>CAA	p.R647Q	USP16_uc002ymx.2_Missense_Mutation_p.R646Q|USP16_uc002ymw.2_Missense_Mutation_p.R647Q|USP16_uc011acm.1_Missense_Mutation_p.R632Q|USP16_uc011acn.1_Missense_Mutation_p.R313Q|USP16_uc011aco.1_Missense_Mutation_p.R337Q	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	647					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			ovary(2)|breast(1)|pancreas(1)	4						GAGAAACTTCGAGATGCGAAT	0.368													A	30419571	G	A	30419571	3	1	158	1	0	0	0	0	1	0	0	0	17044	1058	37	1	1990	1	USP16	21	30419571	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	80858	30419571	17710324	2866	86647											
BACH1	571	broad.mit.edu	37	chr21	30699050	30699050	+	Frame_Shift_Del	DEL	A	A	-													tgcttctcagtgcccaactgAaaaatcagaagtgactcctt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:30699049_30699049GA>G	uc002ynk.3	+	2	1147	c.904_904GA>G	c.(904-906)gaafs	p.E302fs	BACH1_uc002ynj.3_Frame_Shift_Del_p.E302fs|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	302						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GTGCCCAACTGAAAAATCAGA	0.398													-	30699050	A	-	30699050	7	5	158	1	0	1	0	1	0	0	0	0	1283	246	9	0	911	0	BACH1	21	30699050	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	279479	30699050	17430845	2867	86648											
KRTAP22-1	337979	broad.mit.edu	37	chr21	31973469	31973469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataacaactaccatggtggCcagggctatgccaaaggagg	13	9	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:31973469C>T	uc011add.1	+	1	30	c.30C>T	c.(28-30)GGC>GGT	p.G10G	KRTAP6-2_uc011adc.1_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	10						intermediate filament					0						ACCATGGTGGCCAGGGCTATG	0.438													T	31973469	C	T	31973469	2	4	158	1	0	0	0	0	0	0	0	1	8540	726	26	2		2	KRTAP22-1	21	31973469	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1274419	31973469	16156426	2868	86649											
MORC3	23515	broad.mit.edu	37	chr21	37741774	37741774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagaactgagaaaccagcTactccttgtcactgaggaaa	8	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:37741774T>C	uc002yvi.2	+	15	2184	c.2108T>C	c.(2107-2109)CTA>CCA	p.L703P		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	703	Potential.				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			ovary(2)	2						AGAAACCAGCTACTCCTTGTC	0.388													C	37741774	T	C	37741774	3	2	158	1	0	0	0	0	1	0	0	0	9703	1522	53	3	2166	3	MORC3	21	37741774	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	5768305	37741774	10388121	2869	86650											
SIM2	6493	broad.mit.edu	37	chr21	38114120	38114120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtggtgcacaacagccGctcgtcccggccccactgca	10	19	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:38114120G>A	uc002yvr.2	+	8	1009	c.953G>A	c.(952-954)CGC>CAC	p.R318H	SIM2_uc002yvq.2_Missense_Mutation_p.R318H	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	318	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1						CACAACAGCCGCTCGTCCCGG	0.483													A	38114120	G	A	38114120	3	1	158	1	0	0	0	0	1	0	0	0	14324	1087	38	1	983	1	SIM2	21	38114120	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	372346	38114120	10015775	2870	86651											
BRWD1	54014	broad.mit.edu	37	chr21	40670383	40670383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacgtagcaaagactgCcttcctgcaccaagtaaaga	9	11	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:40670383C>T	uc002yxk.1	-	5	463	c.324G>A	c.(322-324)AGG>AGA	p.R108R	BRWD1_uc002yxl.2_Silent_p.R108R|BRWD1_uc002yxm.2_Silent_p.R108R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCAAAGACTGCCTTCCTGCAC	0.373													T	40670383	C	T	40670383	2	4	158	1	0	0	0	0	0	0	0	1	1525	738	26	2		2	BRWD1	21	40670383	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	2556263	40670383	7459512	2871	86652											
B3GALT5	10317	broad.mit.edu	37	chr21	41032852	41032852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggggacattatccagaaGgatttcctagacgtctatta	9	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:41032852G>A	uc002yyb.1	+	5	958	c.366G>A	c.(364-366)AAG>AAA	p.K122K	B3GALT5_uc002yye.2_Silent_p.K122K|B3GALT5_uc002yyi.1_Silent_p.K122K|B3GALT5_uc002yyj.1_Silent_p.K122K|B3GALT5_uc002yyk.1_Silent_p.K122K|B3GALT5_uc002yyl.1_Silent_p.K122K|B3GALT5_uc002yym.1_Silent_p.K122K	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	122	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				TTATCCAGAAGGATTTCCTAG	0.522													A	41032852	G	A	41032852	2	1	158	1	0	0	0	0	0	0	0	1	1250	991	35	4		4	B3GALT5	21	41032852	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	362469	41032852	7097043	2872	86653											
IGSF5	150084	broad.mit.edu	37	chr21	41137483	41137483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggtctggtaatgaagTcatagaaggcccccaaaatg	11	8	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:41137483T>C	uc002yyo.2	+	3	225	c.122T>C	c.(121-123)GTC>GCC	p.V41A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	41	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				GGTAATGAAGTCATAGAAGGC	0.478													C	41137483	T	C	41137483	3	2	158	1	0	0	0	0	1	0	0	0	7602	1667	58	3	132	3	IGSF5	21	41137483	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	104631	41137483	6992412	2873	86654											
DSCAM	1826	broad.mit.edu	37	chr21	41516473	41516473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccccgtgccggcccgGttacaggcctgcaccaccag	13	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:41516473G>A	uc002yyq.1	-	17	3656	c.3204C>T	c.(3202-3204)AAC>AAT	p.N1068N	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1068	Fibronectin type-III 2.|Extracellular (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCGGCCCGGTTACAGGCCT	0.582													A	41516473	G	A	41516473	2	1	158	1	0	0	0	0	0	0	0	1	4768	1252	44	4		4	DSCAM	21	41516473	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	378990	41516473	6613422	2874	86655											
BACE2	25825	broad.mit.edu	37	chr21	42615331	42615331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaattgaaccaagtttgtAtaaaggagacatctggtata	10	4	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:42615331A>G	uc002yyw.2	+	5	1239	c.776A>G	c.(775-777)TAT>TGT	p.Y259C	BACE2_uc002yyx.2_Missense_Mutation_p.Y259C|BACE2_uc002yyy.2_Missense_Mutation_p.Y259C|BACE2_uc010goo.2_5'Flank	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	259	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCAAGTTTGTATAAAGGAGAC	0.393													G	42615331	A	G	42615331	3	3	158	1	0	0	0	0	1	0	0	0	1282	449	16	3	794	3	BACE2	21	42615331	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1098858	42615331	5514564	2875	86656											
C2CD2	25966	broad.mit.edu	37	chr21	43325851	43325851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgtctgaagaagagaGtgttttgctgacgggggcgc	16	7	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:43325851G>T	uc002yzw.2	-	11	1656	c.1414C>A	c.(1414-1416)CTC>ATC	p.L472I	C2CD2_uc002yzt.2_Missense_Mutation_p.L88I|C2CD2_uc002yzu.2_Missense_Mutation_p.L304I|C2CD2_uc002yzv.2_Missense_Mutation_p.L317I|C2CD2_uc002yzx.1_Missense_Mutation_p.L317I	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	472						cytosol|extracellular region|nucleus				ovary(1)	1						GAAGAAGAGAGTGTTTTGCTG	0.537													T	43325851	G	T	43325851	3	4	158	1	0	0	0	0	1	0	0	0	2152	1029	36	5	692	5	C2CD2	21	43325851	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	710520	43325851	4804044	2876	86657											
RRP1	8568	broad.mit.edu	37	chr21	45223630	45223632	+	In_Frame_Del	DEL	AGA	AGA	-													ggccaatgtccaggagccggAgaagaagaagaaacgcaggg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45223630_45223632delAGA	uc002zds.2	+	13	1454_1456	c.1361_1363delAGA	c.(1360-1365)GAGAAG>GAG	p.K458del	RRP1_uc010gpk.1_In_Frame_Del_p.K308del|RRP1_uc010gpl.1_In_Frame_Del_p.K356del|RRP1_uc010gpm.1_In_Frame_Del_p.K325del	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	458					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CAGGAGCCGGAGAAGAAGAAGAA	0.685													-	45223632	AGA	-	45223630	7	5	158	1	0	1	0	1	0	0	0	0	13685	304	11	0	1411	0	RRP1	21	45223630	In_Frame_Del	DEL	AGA	TCGA-CD-A4MG-01A-11D-A25D-08	1897779	45223630	2906265	2877	86658											
TRAPPC10	7109	broad.mit.edu	37	chr21	45507599	45507599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagtcttctgaggccgcGctccggattcagtcctccga	11	14	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45507599G>A	uc002zea.2	+	17	2728	c.2559G>A	c.(2557-2559)GCG>GCA	p.A853A	TRAPPC10_uc010gpo.2_Silent_p.A564A|TRAPPC10_uc011afa.1_Intron|TRAPPC10_uc011afb.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	853					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CTGAGGCCGCGCTCCGGATTC	0.512													A	45507599	G	A	45507599	2	1	158	1	0	0	0	0	0	0	0	1	16454	1074	38	1		1	TRAPPC10	21	45507599	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	283969	45507599	2622296	2878	86659											
TRPM2	7226	broad.mit.edu	37	chr21	45821688	45821688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgcctgttcgcctacGtgctcatggtggacttccag	10	14	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45821688G>A	uc002zet.1	+	17	2659	c.2446G>A	c.(2446-2448)GTG>ATG	p.V816M	TRPM2_uc002zeu.1_Missense_Mutation_p.V816M|TRPM2_uc002zew.1_Missense_Mutation_p.V816M|TRPM2_uc010gpt.1_Missense_Mutation_p.V816M|TRPM2_uc002zex.1_Missense_Mutation_p.V602M|TRPM2_uc002zey.1_Missense_Mutation_p.V329M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	816	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTCGCCTACGTGCTCATGGT	0.637													A	45821688	G	A	45821688	3	1	158	1	0	0	0	0	1	0	0	0	16583	1145	40	1	2508	1	TRPM2	21	45821688	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	314089	45821688	2308207	2879	86660											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994758	45994758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggcccgcctgctgcGtgcccgtcccttcctgctgt	12	17	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45994758G>A	uc002zfk.1	+	1	1153	c.1123G>A	c.(1123-1125)GTG>ATG	p.V375M	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	375	36 X 5 AA repeats of C-C-X(3).|35.					keratin filament					0						CGCCTGCTGCGTGCCCGTCCC	0.701													A	45994758	G	A	45994758	3	1	158	1	0	0	0	0	1	0	0	0	8511	1145	40	1	1125	1	KRTAP10-4	21	45994758	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	173070	45994758	2135137	2880	86661											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46012220	46012221	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG													caggctcaggcagggggccgINSgggcgcagcaggggggctca					rs71199613		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:46012219_46012220C>CGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147G>CAGCTGCTGCGCCCCG	c.(145-147)ccg>cCAGCTGCTGCGCCCCG	p.49_49P>PAAAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													GGGGCGCAGCAGCTG	46012221	-	GGGGCGCAGCAGCTG	46012220	7	5	158	1	0	1	1	0	0	0	0	0	8513	1116	39	0	955	0	KRTAP10-6	21	46012220	In_Frame_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	17462	46012220	2117675	2881	86662											
ADARB1	104	broad.mit.edu	37	chr21	46640907	46640907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcacgcgttgtactgtcGctggatgcgtgtgcacggca	14	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:46640907G>A	uc002zgy.2	+	11	2459	c.2024G>A	c.(2023-2025)CGC>CAC	p.R675H	ADARB1_uc002zgr.2_Missense_Mutation_p.R675H|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.R635H|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.R635H|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	675	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TTGTACTGTCGCTGGATGCGT	0.612													A	46640907	G	A	46640907	3	1	158	1	0	0	0	0	1	0	0	0	282	1087	38	1	2058	1	ADARB1	21	46640907	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	628687	46640907	1488988	2882	86663											
SLC19A1	6573	broad.mit.edu	37	chr21	46945824	46945824	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaagaacgtgttgaccccGaagaccagggcacagagctc	12	12	0	4	rs149270420	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:46945824G>A	uc002zhl.1	-	5	1319	c.1200C>T	c.(1198-1200)TTC>TTT	p.F400F	SLC19A1_uc010gpy.1_Silent_p.F400F|SLC19A1_uc011aft.1_Silent_p.F360F|SLC19A1_uc002zhm.1_Silent_p.F400F|SLC19A1_uc010gpz.1_Silent_p.F279F	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	400	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGTTGACCCCGAAGACCAGGG	0.577													A	46945824	G	A	46945824	2	1	158	1	0	0	0	0	0	0	0	1	14428	1049	37	1		1	SLC19A1	21	46945824	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	304917	46945824	1184071	2883	86664											
COL6A2	1292	broad.mit.edu	37	chr21	47533969	47533969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggccctctggccccaaGggctaccgtggacagaaggt	14	14	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47533969G>T	uc002zia.1	+	5	865	c.783G>T	c.(781-783)AAG>AAT	p.K261N	COL6A2_uc002zhy.1_Missense_Mutation_p.K261N|COL6A2_uc002zhz.1_Missense_Mutation_p.K261N|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	261	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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGCCCCAAGGGCTACCGTG	0.517													T	47533969	G	T	47533969	3	4	158	1	0	0	0	0	1	0	0	0	3700	991	35	5	797	5	COL6A2	21	47533969	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	588145	47533969	595926	2884	86665											
LSS	4047	broad.mit.edu	37	chr21	47647501	47647501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccaccataatcacccGtccagtgcccatcctcagcc	8	18	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47647501G>A	uc002zij.2	-	3	363	c.284C>T	c.(283-285)ACG>ATG	p.T95M	LSS_uc011afv.1_Missense_Mutation_p.T95M|LSS_uc002zil.2_Missense_Mutation_p.T95M|LSS_uc002zik.2_Missense_Mutation_p.T15M|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	95					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					ATAATCACCCGTCCAGTGCCC	0.577													A	47647501	G	A	47647501	3	1	158	1	0	0	0	0	1	0	0	0	9065	1145	40	1	1994	1	LSS	21	47647501	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	113532	47647501	482394	2885	86666											
PCNT	5116	broad.mit.edu	37	chr21	47808673	47808673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggggccctccaggacGccctgcgcaggctgctgggt	16	14	1	1	rs150279909	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47808673G>A	uc002zji.3	+	18	3588	c.3481G>A	c.(3481-3483)GCC>ACC	p.A1161T	PCNT_uc002zjj.2_Missense_Mutation_p.A1043T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1161					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCTCCAGGACGCCCTGCGCAG	0.672													A	47808673	G	A	47808673	3	1	158	1	0	0	0	0	1	0	0	0	11590	1087	38	1	3551	1	PCNT	21	47808673	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	161172	47808673	321222	2886	86667											
PCNT	5116	broad.mit.edu	37	chr21	47863742	47863742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccgagcacgacagccGcagtctccacccagaaccag	11	18	1	1	rs141991283	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47863742G>A	uc002zji.3	+	45	9827	c.9720G>A	c.(9718-9720)CCG>CCA	p.P3240P	PCNT_uc002zjj.2_Silent_p.P3043P	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3240	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CACGACAGCCGCAGTCTCCAC	0.547													A	47863742	G	A	47863742	2	1	158	1	0	0	0	0	0	0	0	1	11590	1074	38	1		1	PCNT	21	47863742	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	55069	47863742	266153	2887	86668											
PRMT2	3275	broad.mit.edu	37	chr21	48081770	48081770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccctgcacggcttcaCggcctggtttagcgtccact	13	14	1	0	rs149476373		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:48081770C>T	uc002zjx.2	+	10	1333	c.1019C>T	c.(1018-1020)ACG>ATG	p.T340M	PRMT2_uc002zjy.2_Missense_Mutation_p.T340M|PRMT2_uc010gqm.2_Missense_Mutation_p.T238M|PRMT2_uc011aga.1_Intron|PRMT2_uc011agb.1_Intron|PRMT2_uc011agc.1_Intron|PRMT2_uc002zjz.1_3'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	340					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			ovary(1)	1	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)		CACGGCTTCACGGCCTGGTTT	0.632													T	48081770	C	T	48081770	3	4	158	1	0	0	0	0	1	0	0	0	12537	536	19	1	1049	1	PRMT2	21	48081770	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	218028	48081770	48125	2888	86669											
CECR6	27439	broad.mit.edu	37	chr22	17600853	17600853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccggccgcgcggtgccGctggggctgcagcagcaggg	19	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:17600853G>A	uc002zmb.2	-	1	1361	c.1165C>T	c.(1165-1167)CGG>TGG	p.R389W	CECR6_uc002zma.2_Missense_Mutation_p.R34W|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	389											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCGCGGTGCCGCTGGGGCTGC	0.731													A	17600853	G	A	17600853	3	1	158	1	0	0	0	0	1	0	0	0	3208	1086	38	1	575	1	CECR6	22	17600853	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		17600853	33703713	2889	86670											
TUBA8	51807	broad.mit.edu	37	chr22	18604278	18604278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtccacgtgggccaagcGggagttcagattggcaatgc	14	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:18604278G>A	uc002znv.1	+	2	109	c.36G>A	c.(34-36)GCG>GCA	p.A12A	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Silent_p.A36A|TUBA8_uc002znu.1_Silent_p.A12A	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	12					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						TGGGCCAAGCGGGAGTTCAGA	0.582													A	18604278	G	A	18604278	2	1	158	1	0	0	0	0	0	0	0	1	16747	1103	39	1		1	TUBA8	22	18604278	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1003425	18604278	32700288	2890	86671											
CLTCL1	8218	broad.mit.edu	37	chr22	19211489	19211489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccacctccttgatctgCcctgtcttacaggcagcctg	7	17	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:19211489C>T	uc002zpb.2	-	14	2292	c.2217G>A	c.(2215-2217)GGG>GGA	p.G739G	CLTCL1_uc011agv.1_Silent_p.G739G|CLTCL1_uc011agw.1_Silent_p.G739G	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	739	Proximal segment.|Heavy chain arm.				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			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CCTTGATCTGCCCTGTCTTAC	0.522			T	?	ALCL								T	19211489	C	T	19211489	2	4	158	1	0	0	0	0	0	0	0	1	3567	726	26	2		2	CLTCL1	22	19211489	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	607211	19211489	32093077	2891	86672											
DGCR8	54487	broad.mit.edu	37	chr22	20096520	20096520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatgaagaggctagctgaGgaaagggtgagtgccaccct	16	7	0	5			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:20096520G>T	uc002zri.2	+	13	2582	c.2232G>T	c.(2230-2232)GAG>GAT	p.E744D	DGCR8_uc010grz.2_Missense_Mutation_p.E711D|DGCR8_uc002zrj.2_Missense_Mutation_p.E387D	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	744	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGCTAGCTGAGGAAAGGGTGA	0.607													T	20096520	G	T	20096520	3	4	158	1	0	0	0	0	1	0	0	0	4464	991	35	5	2278	5	DGCR8	22	20096520	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	885031	20096520	31208046	2892	86673											
PI4KA	5297	broad.mit.edu	37	chr22	21101908	21101908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttgtagccagcaaagTgaaggatgctctcagtggcc	13	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21101908T>C	uc002zsz.3	-	29	3383	c.3152A>G	c.(3151-3153)CAC>CGC	p.H1051R		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1051					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			GCCAGCAAAGTGAAGGATGCT	0.517													C	21101908	T	C	21101908	3	2	158	1	0	0	0	0	1	0	0	0	11873	1696	59	3	3090	3	PI4KA	22	21101908	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1005388	21101908	30202658	2893	86674											
CRKL	1399	broad.mit.edu	37	chr22	21272475	21272475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccatttgccggccctgCtggagttttacaagatccac	9	12	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21272475C>T	uc002ztf.2	+	1	762	c.253C>T	c.(253-255)CTG>TTG	p.L85L	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	85	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	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)			GCCGGCCCTGCTGGAGTTTTA	0.602													T	21272475	C	T	21272475	2	4	158	1	0	0	0	0	0	0	0	1	3885	796	28	2		2	CRKL	22	21272475	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	170567	21272475	30032091	2894	86675											
P2RX6	9127	broad.mit.edu	37	chr22	21377608	21377608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacctattttaagcactGccgctatgaaccacaattca	4	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21377608G>A	uc010gsu.1	+	7	683	c.683G>A	c.(682-684)TGC>TAC	p.C228Y	P2RX6_uc002ztz.2_Missense_Mutation_p.C202Y|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	228	Extracellular (Potential).				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				0						TTTAAGCACTGCCGCTATGAA	0.597													A	21377608	G	A	21377608	3	1	158	1	0	0	0	0	1	0	0	0	11344	1319	46	2	709	2	P2RX6	22	21377608	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	105133	21377608	29926958	2895	86676											
HIC2	23119	broad.mit.edu	37	chr22	21800745	21800745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggacccagccacgctgCggcagcacgagaagacgcac	12	15	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21800745C>T	uc002zur.3	+	3	1791	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	HIC2_uc002zus.3_Missense_Mutation_p.R521W	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	521	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AGCCACGCTGCGGCAGCACGA	0.642													T	21800745	C	T	21800745	3	4	158	1	0	0	0	0	1	0	0	0	7102	759	27	1	1567	1	HIC2	22	21800745	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	423137	21800745	29503821	2896	86677											
BCR	613	broad.mit.edu	37	chr22	23523868	23523868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcggagagcagctgcGgcgtcgacggcgactacgag	16	13	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:23523868G>A	uc002zww.2	+	1	1317	c.721G>A	c.(721-723)GGC>AGC	p.G241S	BCR_uc002zwx.2_Missense_Mutation_p.G241S	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	241	Kinase.|Binding to ABL SH2-domain.				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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GAGCAGCTGCGGCGTCGACGG	0.677			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								A	23523868	G	A	23523868	3	1	158	1	0	0	0	0	1	0	0	0	1388	1116	39	1	723	1	BCR	22	23523868	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1723123	23523868	27780698	2897	86678											
CABIN1	23523	broad.mit.edu	37	chr22	24480975	24480975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaccctgcctcccagAgggggctgacccctcccctc	10	20	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:24480975A>G	uc002zzi.1	+	22	3261	c.3134A>G	c.(3133-3135)GAG>GGG	p.E1045G	CABIN1_uc002zzj.1_Missense_Mutation_p.E995G|CABIN1_uc002zzl.1_Missense_Mutation_p.E1045G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1045					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TGCCTCCCAGAGGGGGCTGAC	0.527													G	24480975	A	G	24480975	3	3	158	1	0	0	0	0	1	0	0	0	2528	304	11	3	3216	3	CABIN1	22	24480975	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	957107	24480975	26823591	2898	86679											
SGSM1	129049	broad.mit.edu	37	chr22	25270530	25270530	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctccccacgccaagcccGaaggagcagccccccagtaa	8	19	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:25270530G>A	uc003abg.2	+	13	1597	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P	SGSM1_uc003abh.2_Silent_p.P480P|SGSM1_uc010guu.1_Intron|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	480						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						CGCCAAGCCCGAAGGAGCAGC	0.632													A	25270530	G	A	25270530	2	1	158	1	0	0	0	0	0	0	0	1	14222	1045	37	1		1	SGSM1	22	25270530	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	789555	25270530	26034036	2899	86680											
MN1	4330	broad.mit.edu	37	chr22	28194198	28194198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcacccccgccaccgccGccaccagagctgccaccgcc	9	23	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:28194198G>A	uc003adj.2	-	1	3289	c.2334C>T	c.(2332-2334)GGC>GGT	p.G778G		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	778							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGCCACCGCCGCCACCAGAGC	0.716			T	ETV6	AML|meningioma								A	28194198	G	A	28194198	2	1	158	1	0	0	0	0	0	0	0	1	9673	1074	38	1		1	MN1	22	28194198	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2923668	28194198	23110368	2900	86681											
GAS2L1	10634	broad.mit.edu	37	chr22	29707852	29707852	+	Frame_Shift_Del	DEL	C	C	-													tgggggctcgggcaggagcaCcccccagactccccgtgccc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:29707852delC	uc003afa.1	+	7	1611	c.1412delC	c.(1411-1413)ACCfs	p.T471fs	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Frame_Shift_Del_p.T471fs|GAS2L1_uc003afd.1_Frame_Shift_Del_p.P471fs|GAS2L1_uc003afe.1_Frame_Shift_Del_p.P471fs	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	471					cell cycle arrest	cytoplasm|cytoskeleton					0						GGCAGGAGCACCCCCCAGACT	0.711													-	29707852	C	-	29707852	7	5	158	1	0	1	0	1	0	0	0	0	6246	507	18	0	1433	0	GAS2L1	22	29707852	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1513654	29707852	21596714	2901	86682											
ZMAT5	55954	broad.mit.edu	37	chr22	30134378	30134378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccagtcctccagatgGccctcggggagctcaggagc	13	15	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:30134378G>A	uc003agm.2	-	6	575	c.324C>T	c.(322-324)GGC>GGT	p.G108G	ZMAT5_uc003agn.2_Silent_p.G108G	NM_019103	NP_061976	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin type 5	108					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CCTCCAGATGGCCCTCGGGGA	0.647													A	30134378	G	A	30134378	2	1	158	1	0	0	0	0	0	0	0	1	17692	1190	42	2		2	ZMAT5	22	30134378	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	426526	30134378	21170188	2902	86683											
CCDC157	550631	broad.mit.edu	37	chr22	30769736	30769736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagcaggggcaatgcCagctcagggcccagcaggtg	18	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:30769736C>A	uc011aku.1	+	8	2146	c.1486C>A	c.(1486-1488)CAG>AAG	p.Q496K	CCDC157_uc011akv.1_Missense_Mutation_p.Q496K	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	496	Potential.									central_nervous_system(1)	1						GGGGCAATGCCAGCTCAGGGC	0.667													A	30769736	C	A	30769736	3	1	158	1	0	0	0	0	1	0	0	0	2789	595	21	5	1508	5	CCDC157	22	30769736	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	635358	30769736	20534830	2903	86684											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951876	30951876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggtagtcgaagtcattGcggccgttagggaaggcgaa	17	7	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:30951876G>A	uc003aig.1	-	4	476	c.336C>T	c.(334-336)CGC>CGT	p.R112R	GAL3ST1_uc003aih.1_Silent_p.R112R|GAL3ST1_uc003aii.1_Silent_p.R112R|GAL3ST1_uc010gvz.1_Silent_p.R112R	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	112	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CGAAGTCATTGCGGCCGTTAG	0.597													A	30951876	G	A	30951876	2	1	158	1	0	0	0	0	0	0	0	1	6197	1306	46	2		2	GAL3ST1	22	30951876	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	182140	30951876	20352690	2904	86685											
SMTN	6525	broad.mit.edu	37	chr22	31487369	31487370	+	Frame_Shift_Ins	INS	-	-	G													cgtcggcactgccgagccagINSggggcagtatgaagaccaca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:31487368_31487369A>AG	uc003ajl.2	+	9	1600_1601	c.1359_1360A>AG	c.(1357-1362)ccagggfs	p.P453fs	SMTN_uc003ajk.2_Frame_Shift_Ins_p.P453fs|SMTN_uc003ajm.2_Frame_Shift_Ins_p.P453fs|SMTN_uc011ale.2_Frame_Shift_Ins_p.P507fs|SMTN_uc011alf.2_Frame_Shift_Ins_p.P509fs|SMTN_uc003ajn.2_Frame_Shift_Ins_p.P445fs|SMTN_uc011alg.2_5'UTR|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	453					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						CTGCCGAGCCAGGGGGCAGTAT	0.673													G	31487370	-	G	31487369	7	5	158	1	0	1	1	0	0	0	0	0	14814	1000	35	0	1394	0	SMTN	22	31487369	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	535493	31487369	19817197	2905	86686											
DEPDC5	9681	broad.mit.edu	37	chr22	32269303	32269303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgacagagatcctggaagCcatgaagcacccctcgtaag	10	13	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:32269303C>T	uc003als.2	+	34	3597	c.3455C>T	c.(3454-3456)GCC>GTC	p.A1152V	DEPDC5_uc011als.1_Missense_Mutation_p.A1083V|DEPDC5_uc011alu.1_Missense_Mutation_p.A1183V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.A1174V|DEPDC5_uc003alu.2_Missense_Mutation_p.A601V|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_3'UTR|DEPDC5_uc003alw.2_Missense_Mutation_p.A450V|DEPDC5_uc011alx.1_5'UTR|DEPDC5_uc010gwk.2_Missense_Mutation_p.A178V|DEPDC5_uc011aly.1_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1152					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ATCCTGGAAGCCATGAAGCAC	0.542													T	32269303	C	T	32269303	3	4	158	1	0	0	0	0	1	0	0	0	4442	739	26	2	3673	2	DEPDC5	22	32269303	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	781934	32269303	19035263	2906	86687											
SLC5A1	6523	broad.mit.edu	37	chr22	32495184	32495184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggttgtttatcctggTgctgattggcatcagcatcg	11	8	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:32495184T>C	uc003amc.2	+	12	1527	c.1295T>C	c.(1294-1296)GTG>GCG	p.V432A	SLC5A1_uc011alz.1_Missense_Mutation_p.V305A	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	432	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TTTATCCTGGTGCTGATTGGC	0.393													C	32495184	T	C	32495184	3	2	158	1	0	0	0	0	1	0	0	0	14661	1696	59	3	1341	3	SLC5A1	22	32495184	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	225881	32495184	18809382	2907	86688											
MYH9	4627	broad.mit.edu	37	chr22	36681702	36681702	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaagtcctggcacccAcctgcaggttggccttcttc	12	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:36681702A>G	uc003apg.2	-	37	5505	c.5274_splice	c.e37+1	p.Q1758_splice		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCTGGCACCCACCTGCAGGTT	0.577			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				G	36681702	A	G	36681702	5	3	158	1	0	0	0	0	0	0	1	0	10042	173	6	3	626	3	MYH9	22	36681702	Splice_Site	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	4186518	36681702	14622864	2908	86689											
MYH9	4627	broad.mit.edu	37	chr22	36708245	36708245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactcctcgtccagcaggGccagaatgcccggggggcct	14	15	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:36708245G>A	uc003apg.2	-	14	1808	c.1577C>T	c.(1576-1578)GCC>GTC	p.A526V	MYH9_uc003aph.1_Missense_Mutation_p.A390V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	526	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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GTCCAGCAGGGCCAGAATGCC	0.647			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36708245	G	A	36708245	3	1	158	1	0	0	0	0	1	0	0	0	10042	1203	42	2	4417	2	MYH9	22	36708245	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	26543	36708245	14596321	2909	86690											
MYH9	4627	broad.mit.edu	37	chr22	36714268	36714268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctgctctttagtctgcGccttctggacgtaatcccgt	8	13	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:36714268G>A	uc003apg.2	-	11	1442	c.1211C>T	c.(1210-1212)GCG>GTG	p.A404V	MYH9_uc003aph.1_Missense_Mutation_p.A268V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	404	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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTTAGTCTGCGCCTTCTGGAC	0.582			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36714268	G	A	36714268	3	1	158	1	0	0	0	0	1	0	0	0	10042	1087	38	1	4795	1	MYH9	22	36714268	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	6023	36714268	14590298	2910	86691											
TRIOBP	11078	broad.mit.edu	37	chr22	38121772	38121772	+	Frame_Shift_Del	DEL	C	C	-													gtgcattggacaccgagatgCcccccgggcgtcctcgcccc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38121771_38121771GC>G	uc003atr.3	+	6	3479	c.3208_3208GC>G	c.(3208-3210)gccfs	p.A1070fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.A898fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.A1070fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.A898fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1070					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin 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)					ACACCGAGATGCCCCCCGGGC	0.647													-	38121772	C	-	38121772	7	5	158	1	0	1	0	1	0	0	0	0	16550	739	26	0	3227	0	TRIOBP	22	38121772	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	1407504	38121772	13182794	2911	86692											
TRIOBP	11078	broad.mit.edu	37	chr22	38154010	38154010	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccggcttagtgaggagatCgagaagaagtggcaggagct	16	6	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38154010C>T	uc003atr.2	+	16	6349	c.6078C>T	c.(6076-6078)ATC>ATT	p.I2026I	TRIOBP_uc003atu.2_Silent_p.I1854I|TRIOBP_uc003atv.2_Silent_p.I313I|TRIOBP_uc003atw.2_Silent_p.I313I|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2026					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)	1	Melanoma(58;0.0574)					GTGAGGAGATCGAGAAGAAGT	0.672													T	38154010	C	T	38154010	2	4	158	1	0	0	0	0	0	0	0	1	16550	874	31	1		1	TRIOBP	22	38154010	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	32238	38154010	13150556	2912	86693											
C22orf23	84645	broad.mit.edu	37	chr22	38341135	38341135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctccatgtccttccctGtggcaaagatattttggagt	9	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38341135G>A	uc003auj.1	-	5	486	c.395C>T	c.(394-396)ACA>ATA	p.T132I	C22orf23_uc003auk.1_Missense_Mutation_p.T132M	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	hypothetical protein LOC84645	132											0	Melanoma(58;0.045)					GTCCTTCCCTGTGGCAAAGAT	0.502													A	38341135	G	A	38341135	3	1	158	1	0	0	0	0	1	0	0	0	2137	1377	48	4	270	4	C22orf23	22	38341135	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	187125	38341135	12963431	2913	86694											
PLA2G6	8398	broad.mit.edu	37	chr22	38512189	38512189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagttcagccggctgcCggtcagacagtgtccctgtc	15	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38512189C>T	uc003auy.1	-	13	1908	c.1772G>A	c.(1771-1773)CGG>CAG	p.R591Q	PLA2G6_uc003auz.1_Missense_Mutation_p.R537Q|PLA2G6_uc003ava.1_Missense_Mutation_p.R591Q|PLA2G6_uc003avb.2_Missense_Mutation_p.R537Q|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc003aux.1_5'Flank	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	591					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCCGGCTGCCGGTCAGACAG	0.587													T	38512189	C	T	38512189	3	4	158	1	0	0	0	0	1	0	0	0	12008	652	23	1	668	1	PLA2G6	22	38512189	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	171054	38512189	12792377	2914	86695											
KCNJ4	3761	broad.mit.edu	37	chr22	38823565	38823565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgcgcaccgaaatgacCgcgtggtggctgaacagcaa	13	13	0	2	rs150693544		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38823565C>T	uc003avs.1	-	2	670	c.573G>A	c.(571-573)GCG>GCA	p.A191A	KCNJ4_uc003avt.1_Silent_p.A191A	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	191	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					CCGAAATGACCGCGTGGTGGC	0.637													T	38823565	C	T	38823565	2	4	158	1	0	0	0	0	0	0	0	1	8053	639	23	1		1	KCNJ4	22	38823565	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	311376	38823565	12481001	2915	86696											
CBX6	23466	broad.mit.edu	37	chr22	39263009	39263009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagaagggcgaaatgggCgggcgcagtccggggctgcc	19	11	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:39263009C>T	uc003awl.2	-	5	507	c.444G>A	c.(442-444)CCG>CCA	p.P148P		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	148					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GCGAAATGGGCGGGCGCAGTC	0.692													T	39263009	C	T	39263009	2	4	158	1	0	0	0	0	0	0	0	1	2722	755	27	1		1	CBX6	22	39263009	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	439444	39263009	12041557	2916	86697											
MGAT3	4248	broad.mit.edu	37	chr22	39883971	39883971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagggaggtgccgcgcCgcgtcatcaacgccatcaac	12	16	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:39883971C>A	uc003axv.3	+	2	858	c.619C>A	c.(619-621)CGC>AGC	p.R207S	MGAT3_uc010gxy.2_Missense_Mutation_p.R207S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	207	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					GGTGCCGCGCCGCGTCATCAA	0.677													A	39883971	C	A	39883971	3	1	158	1	0	0	0	0	1	0	0	0	9544	652	23	5	621	5	MGAT3	22	39883971	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	620962	39883971	11420595	2917	86698											
TNRC6B	23112	broad.mit.edu	37	chr22	40660971	40660971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagggagccagtgccAgtctgcaagttctgggaacg	15	8	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:40660971A>G	uc011aor.1	+	5	948	c.737A>G	c.(736-738)CAG>CGG	p.Q246R	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.Q246R|TNRC6B_uc003ayo.2_Missense_Mutation_p.Q50R	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	246					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						AGCCAGTGCCAGTCTGCAAGT	0.473													G	40660971	A	G	40660971	3	3	158	1	0	0	0	0	1	0	0	0	16338	188	7	3	876	3	TNRC6B	22	40660971	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	777000	40660971	10643595	2918	86699											
SLC25A17	10478	broad.mit.edu	37	chr22	41195058	41195058	+	Frame_Shift_Del	DEL	A	A	-													agtctagctgtatccaggggAaaaaacactgtcattgctgt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41195058delA	uc003azc.2	-	2	224	c.84delT	c.(82-84)TTTfs	p.F28fs	SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_5'UTR|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Frame_Shift_Del_p.F28fs	NM_006358	NP_006349	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier;	28	Solcar 1.|Helical; Name=1; (Potential).				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding				0						TATCCAGGGGAAAAAACACTG	0.348													-	41195058	A	-	41195058	7	5	158	1	0	1	0	1	0	0	0	0	14479	243	9	0	871	0	SLC25A17	22	41195058	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	534087	41195058	10109508	2919	86700											
ST13	6767	broad.mit.edu	37	chr22	41222549	41222549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcagaaggacattacgctTgacctccaaatttggctgac	8	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41222549T>C	uc003aze.2	-	12	1246	c.1103A>G	c.(1102-1104)CAA>CGA	p.Q368R	ST13_uc011aow.1_Missense_Mutation_p.Q358R	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	368							protein binding, bridging				0						ACATTACGCTTGACCTCCAAA	0.418													C	41222549	T	C	41222549	3	2	158	1	0	0	0	0	1	0	0	0	15209	1812	63	3	10	3	ST13	22	41222549	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	27491	41222549	10082017	2920	86701											
RANGAP1	5905	broad.mit.edu	37	chr22	41650405	41650405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcTtcttcctcctcttcctcatc	0	22	5	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41650405T>C	uc003azs.2	-	10	2637	c.1167A>G	c.(1165-1167)GAA>GAG	p.E389E	RANGAP1_uc003azt.2_Silent_p.E389E|RANGAP1_uc003azu.2_Silent_p.E389E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_Silent_p.E334E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	389	Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						cctcctcctcttcttcctcct	0.264													C	41650405	T	C	41650405	2	2	158	1	0	0	0	0	0	0	0	1	13033	1606	56	3		3	RANGAP1	22	41650405	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	427856	41650405	9654161	2921	86702											
RANGAP1	5905	broad.mit.edu	37	chr22	41670616	41670618	+	In_Frame_Del	DEL	CTT	CTT	-													ctgctcaccttcaactccgaCttcttctctaaggccttggc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41670615_41670617ACTT>A	uc003azs.3	-	1	1697_1699	c.227_229AAGT>T	c.(226-231)aagtcg>aTcg	p.76_77KS>I	RANGAP1_uc003azt.3_In_Frame_Del_p.76_77KS>I|RANGAP1_uc003azu.3_In_Frame_Del_p.76_77KS>I|RANGAP1_uc011aoz.2_In_Frame_Del_p.66_67KS>I	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	76					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			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						TTCAACTCCGACTTCTTCTCTAA	0.552													-	41670618	CTT	-	41670616	7	5	158	1	0	1	0	1	0	0	0	0	13033	564	20	0	1591	0	RANGAP1	22	41670616	In_Frame_Del	DEL	CTT	TCGA-CD-A4MG-01A-11D-A25D-08	20211	41670616	9633950	2922	86703											
ACO2	50	broad.mit.edu	37	chr22	41920923	41920923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgacgggcacggatgGcaagaagttcaggctggagg	16	9	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41920923G>A	uc003bac.2	+	13	1578	c.1556G>A	c.(1555-1557)GGC>GAC	p.G519D	ACO2_uc003bad.2_Missense_Mutation_p.G544D	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	519					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(2)|ovary(1)|lung(1)	4						GGCACGGATGGCAAGAAGTTC	0.597													A	41920923	G	A	41920923	3	1	158	1	0	0	0	0	1	0	0	0	147	1203	42	2	1606	2	ACO2	22	41920923	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	250307	41920923	9383643	2923	86704											
ACO2	50	broad.mit.edu	37	chr22	41923953	41923953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgaccttcgctgaccCggctgactacaacaagattc	8	15	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41923953C>T	uc003bac.2	+	17	2157	c.2135C>T	c.(2134-2136)CCG>CTG	p.P712L	ACO2_uc003bad.2_Missense_Mutation_p.P737L|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	712					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(2)|ovary(1)|lung(1)	4						TTCGCTGACCCGGCTGACTAC	0.607													T	41923953	C	T	41923953	3	4	158	1	0	0	0	0	1	0	0	0	147	652	23	1	2201	1	ACO2	22	41923953	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3030	41923953	9380613	2924	86705											
PACSIN2	11252	broad.mit.edu	37	chr22	43287156	43287156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcggacatgaaggccaTccaggccttctccacggtcc	10	16	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:43287156T>C	uc010gzg.2	-	4	472	c.250A>G	c.(250-252)ATG>GTG	p.M84V	PACSIN2_uc003bdg.3_Missense_Mutation_p.M84V|PACSIN2_uc003bde.3_Missense_Mutation_p.M84V|PACSIN2_uc003bdf.3_Missense_Mutation_p.M84V	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	84					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				ATGAAGGCCATCCAGGCCTTC	0.612													C	43287156	T	C	43287156	3	2	158	1	0	0	0	0	1	0	0	0	11375	1435	50	3	1242	3	PACSIN2	22	43287156	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1363203	43287156	8017410	2925	86706											
PHF21B	112885	broad.mit.edu	37	chr22	45309721	45309721	+	Frame_Shift_Del	DEL	G	G	-													cctcggggttctcctgggtcGggggccggtcttccttcttc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:45309720_45309720CG>C	uc003bfn.3	-	4	964	c.813_813CG>G	c.(811-813)ccgfs	p.P271fs	PHF21B_uc011aqk.2_Frame_Shift_Del_p.P217fs|PHF21B_uc003bfm.3_Frame_Shift_Del_p.P67fs|PHF21B_uc011aql.2_Frame_Shift_Del_p.P229fs|PHF21B_uc011aqm.1_Frame_Shift_Del_p.P217fs	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	271							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)		TCTCCTGGGTCGGGGGCCGGT	0.667													-	45309721	G	-	45309721	7	5	158	1	0	1	0	1	0	0	0	0	11834	1116	39	0	819	0	PHF21B	22	45309721	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	2022565	45309721	5994845	2926	86707											
CELSR1	9620	broad.mit.edu	37	chr22	46765084	46765084	+	Frame_Shift_Del	DEL	T	T	-													agccccacttacacgatcccTtttttcccataataatggtg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:46765083_46765083CT>C	uc003bhw.1	-	26	7945	c.7945_7945AG>G	c.(7945-7947)gggfs	p.G2649fs	CELSR1_uc011arc.1_Frame_Shift_Del_p.R1114fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2649					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		TACACGATCCCTTTTTTCCCA	0.537													-	46765084	T	-	46765084	7	5	158	1	0	1	0	1	0	0	0	0	3221	1606	56	0	1136	0	CELSR1	22	46765084	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	1455363	46765084	4539482	2927	86708											
CELSR1	9620	broad.mit.edu	37	chr22	46859850	46859850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgcacttcatgtagttctCgcagggctcgcgcaggcaga	12	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:46859850C>T	uc003bhw.1	-	2	3937	c.3937G>A	c.(3937-3939)GAG>AAG	p.E1313K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1313	Extracellular (Potential).|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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		ATGTAGTTCTCGCAGGGCTCG	0.627													T	46859850	C	T	46859850	3	4	158	1	0	0	0	0	1	0	0	0	3221	893	31	1	5243	1	CELSR1	22	46859850	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	94766	46859850	4444716	2928	86709											
MLC1	23209	broad.mit.edu	37	chr22	50515292	50515292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaagatttcaggacccgaGcaggaaatggcacttcgtcc	11	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50515292G>A	uc003bjg.1	-	7	848	c.575C>T	c.(574-576)GCT>GTT	p.A192V	MLC1_uc011arl.1_Missense_Mutation_p.A140V|MLC1_uc003bjh.1_Missense_Mutation_p.A192V|MLC1_uc011arm.1_Missense_Mutation_p.A162V|MLC1_uc011arn.1_Missense_Mutation_p.A113V|MLC1_uc011aro.1_Missense_Mutation_p.A158V	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	192						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		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)		CAGGACCCGAGCAGGAAATGG	0.517													A	50515292	G	A	50515292	3	1	158	1	0	0	0	0	1	0	0	0	9612	971	34	2	582	2	MLC1	22	50515292	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3655442	50515292	789274	2929	86710											
SELO	83642	broad.mit.edu	37	chr22	50647129	50647129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcgtgcagagaaatgCtgccttcttccgggaggtca	13	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50647129C>T	uc011arr.1	+	3	981	c.923C>T	c.(922-924)GCT>GTT	p.A308V	SELO_uc010hap.2_Missense_Mutation_p.A119V|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	308											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAGAGAAATGCTGCCTTCTTC	0.612													T	50647129	C	T	50647129	3	4	158	1	0	0	0	0	1	0	0	0	14018	797	28	2	933	2	SELO	22	50647129	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	131837	50647129	657437	2930	86711											
TUBGCP6	85378	broad.mit.edu	37	chr22	50657858	50657858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccggggaagcacggggCgcaaaagatgagcaatgggc	18	9	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50657858C>T	uc003bkb.1	-	19	4855	c.4343G>A	c.(4342-4344)CGC>CAC	p.R1448H	TUBGCP6_uc003bka.1_Missense_Mutation_p.R535H|TUBGCP6_uc010har.1_Missense_Mutation_p.R1440H|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1448					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		AAGCACGGGGCGCAAAAGATG	0.682													T	50657858	C	T	50657858	3	4	158	1	0	0	0	0	1	0	0	0	16767	768	27	1	1144	1	TUBGCP6	22	50657858	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	10729	50657858	646708	2931	86712											
HDAC10	83933	broad.mit.edu	37	chr22	50686696	50686696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggggcctgggcagcacGggcactctggatggactcta	17	11	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50686696G>A	uc003bkg.2	-	12	1412	c.1039C>T	c.(1039-1041)CGT>TGT	p.R347C	HDAC10_uc003bke.2_Missense_Mutation_p.R73C|HDAC10_uc003bkf.2_Missense_Mutation_p.R73C|HDAC10_uc010hav.2_Missense_Mutation_p.R327C|HDAC10_uc003bkh.2_Missense_Mutation_p.R140C|HDAC10_uc003bki.2_Missense_Mutation_p.R297C|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	347					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)				0		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)		TGGGCAGCACGGGCACTCTGG	0.667													A	50686696	G	A	50686696	3	1	158	1	0	0	0	0	1	0	0	0	7005	1116	39	1	1006	1	HDAC10	22	50686696	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	28838	50686696	617870	2932	86713											
PLXNB2	23654	broad.mit.edu	37	chr22	50728801	50728801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcttgttgtccagggcCgggcccgtggccacctgctg	13	15	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50728801C>T	uc003bkv.3	-	3	319	c.213G>A	c.(211-213)CCG>CCA	p.P71P		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	71	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		TGTCCAGGGCCGGGCCCGTGG	0.642													T	50728801	C	T	50728801	2	4	158	1	0	0	0	0	0	0	0	1	12124	639	23	1		1	PLXNB2	22	50728801	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	42105	50728801	575765	2933	86714											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987889	50987889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgcctggaccccacgcGcgccactccccgcaggcacc	10	22	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50987889G>A	uc003bmi.2	+	1	1428	c.1294G>A	c.(1294-1296)GCG>ACG	p.A432T		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432	Kelch 3.									central_nervous_system(1)	1		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)		GACCCCACGCGCGCCACTCCC	0.672													A	50987889	G	A	50987889	3	1	158	1	0	0	0	0	1	0	0	0	8361	1087	38	1	1296	1	KLHDC7B	22	50987889	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	259088	50987889	316677	2934	86715											
ASMTL	8623	broad.mit.edu	37	chrX	1546685	1546685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgggaacggaggcaggGtctcccgagtcctgtgacac	16	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:1546685G>A	uc004cpx.1	-	7	950	c.839C>T	c.(838-840)ACC>ATC	p.T280I	ASMTL_uc011mhe.1_Missense_Mutation_p.T204I|ASMTL_uc004cpy.1_Missense_Mutation_p.T264I|ASMTL_uc011mhf.1_Missense_Mutation_p.T222I	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	280	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		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)				CGGAGGCAGGGTCTCCCGAGT	0.537													A	1546685	G	A	1546685	3	1	158	1	0	0	0	0	1	0	0	0	1046	1261	44	4	1054	4	ASMTL	23	1546685	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08		1546685	153723875	2935	86716											
SFRS17A	8227	broad.mit.edu	37	chrX	1720111	1720111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatgtctccagaaaggAcacccggtcagaacaggaca	11	11	2	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:1720111A>G	uc004cqa.2	+	5	1908	c.1712A>G	c.(1711-1713)GAC>GGC	p.D571G	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	571					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		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)				TCCAGAAAGGACACCCGGTCA	0.657													G	1720111	A	G	1720111	3	3	158	1	0	0	0	0	1	0	0	0	14173	275	10	3	1726	3	SFRS17A	23	1720111	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	173426	1720111	153550449	2936	86717											
ZBED1	9189	broad.mit.edu	37	chrX	2406791	2406791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctggtcctcgggttccGcctctgccccactccgggcg	12	19	1	0	rs142634106		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:2406791G>A	uc004cqg.2	-	2	2171	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.A657V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	657						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				CTCGGGTTCCGCCTCTGCCCC	0.662													A	2406791	G	A	2406791	3	1	158	1	0	0	0	0	1	0	0	0	17514	1087	38	1	118	1	ZBED1	23	2406791	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	686680	2406791	152863769	2937	86718											
TBL1X	6907	broad.mit.edu	37	chrX	9679787	9679787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttggccagtggatccttcGacaagtgcgtccatatctgg	11	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:9679787G>A	uc010ndq.2	+	16	1944	c.1576G>A	c.(1576-1578)GAC>AAC	p.D526N	TBL1X_uc004csq.3_Missense_Mutation_p.D475N|TBL1X_uc010ndr.2_Missense_Mutation_p.D475N|TBL1X_uc004csr.2_Missense_Mutation_p.D526N|TBL1X_uc004css.2_Missense_Mutation_p.D477N	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	526	WD 7.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				TGGATCCTTCGACAAGTGCGT	0.532													A	9679787	G	A	9679787	3	1	158	1	0	0	0	0	1	0	0	0	15636	1058	37	1	1626	1	TBL1X	23	9679787	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7272996	9679787	145590773	2938	86719											
WWC3	55841	broad.mit.edu	37	chrX	10090659	10090659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtcccttacttacagCagtgactcttcgagaagaca	9	10	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:10090659C>A	uc004csx.3	+	12	1829	c.1631C>A	c.(1630-1632)ACA>AAA	p.T544K	WWC3_uc010nds.2_Missense_Mutation_p.T208K|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	544										ovary(4)	4						TTACTTACAGCAGTGACTCTT	0.567													A	10090659	C	A	10090659	3	1	158	1	0	0	0	0	1	0	0	0	17410	724	25	5	1673	5	WWC3	23	10090659	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	410872	10090659	145179901	2939	86720											
MOSPD2	158747	broad.mit.edu	37	chrX	14927024	14927024	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttggtccagaagcagTgagcttgttgaagtttacaa	12	7	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:14927024T>A	uc004cwi.2	+	8	708	c.620T>A	c.(619-621)GTG>GAG	p.V207E	MOSPD2_uc004cwj.2_Missense_Mutation_p.V144E	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	207	CRAL-TRIO.					integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)					CCAGAAGCAGTGAGCTTGTTG	0.388													A	14927024	T	A	14927024	3	1	158	1	0	0	0	0	1	0	0	0	9716	1696	59	5	650	5	MOSPD2	23	14927024	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4836365	14927024	140343536	2940	86721											
TXLNG	55787	broad.mit.edu	37	chrX	16847845	16847845	+	Frame_Shift_Del	DEL	G	G	-													cgacaggaaaacattgagctGggggagaagctaaagaagct							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:16847845delG	uc004cxq.1	+	5	867	c.816delG	c.(814-816)CTGfs	p.L272fs	TXLNG_uc010ney.1_Frame_Shift_Del_p.L140fs	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	272	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						ACATTGAGCTGGGGGAGAAGC	0.443													-	16847845	G	-	16847845	7	5	158	1	0	1	0	1	0	0	0	0	16786	1335	47	0	834	0	TXLNG	23	16847845	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1920821	16847845	138422715	2941	86722											
RBBP7	5931	broad.mit.edu	37	chrX	16876853	16876853	+	Frame_Shift_Del	DEL	T	T	-													caacacatcagaagatggtgTttttgtagcaatgatgtgag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:16876853delT	uc004cxt.2	-	4	785	c.427delA	c.(427-429)ACAfs	p.T143fs	RBBP7_uc004cxs.1_Frame_Shift_Del_p.T187fs|RBBP7_uc004cxu.2_Frame_Shift_Del_p.T134fs|RBBP7_uc010nez.2_Frame_Shift_Del_p.T12fs	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	143	WD 2.				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			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					GAAGATGGTGTTTTTGTAGCA	0.363													-	16876853	T	-	16876853	7	5	158	1	0	1	0	1	0	0	0	0	13104	1725	60	0	886	0	RBBP7	23	16876853	Frame_Shift_Del	DEL	T	TCGA-CD-A4MG-01A-11D-A25D-08	29008	16876853	138393707	2942	86723											
ZNF645	158506	broad.mit.edu	37	chrX	22291685	22291685	+	Frame_Shift_Del	DEL	G	G	-													ccatggtgtcactaccgtctGtgcaacatatgctacaagag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:22291685delG	uc004dai.1	+	1	626	c.577delG	c.(577-579)GTGfs	p.V193fs		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	193						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						ACTACCGTCTGTGCAACATAT	0.473													-	22291685	G	-	22291685	7	5	158	1	0	1	0	1	0	0	0	0	18058	1377	48	0	579	0	ZNF645	23	22291685	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	5414832	22291685	132978875	2943	86724											
MAGEB6	158809	broad.mit.edu	37	chrX	26212500	26212500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgaggaaagtgtaagCgcctcacagaaagccatcat	11	8	2	3	rs148547775	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:26212500C>T	uc004dbr.2	+	2	686	c.537C>T	c.(535-537)AGC>AGT	p.S179S	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	179										ovary(3)	3						AAAGTGTAAGCGCCTCACAGA	0.493													T	26212500	C	T	26212500	2	4	158	1	0	0	0	0	0	0	0	1	9179	767	27	1		1	MAGEB6	23	26212500	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3920815	26212500	129058060	2944	86725											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998107	27998107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacgacaaactcactccGggggccatagaaattaacac	8	13	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:27998107G>A	uc004dbx.1	-	1	1460	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449	WD 6.									ovary(3)|skin(1)	4						AACTCACTCCGGGGGCCATAG	0.468													A	27998107	G	A	27998107	3	1	158	1	0	0	0	0	1	0	0	0	4277	1115	39	1	461	1	DCAF8L1	23	27998107	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1785607	27998107	127272453	2945	86726											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973751	29973751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtacgacgtacctcctacCggcaccctgcctcttacctc	7	18	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:29973751C>T	uc004dby.2	+	11	2413	c.1905C>T	c.(1903-1905)ACC>ACT	p.T635T		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	635	Cytoplasmic (Potential).|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			ovary(3)|lung(1)|pancreas(1)	5						TACCTCCTACCGGCACCCTGC	0.512													T	29973751	C	T	29973751	2	4	158	1	0	0	0	0	0	0	0	1	7661	639	23	1		1	IL1RAPL1	23	29973751	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1975644	29973751	125296809	2946	86727											
GPR34	2857	broad.mit.edu	37	chrX	41554898	41554898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagacaatgagaagtcaTaccataacaatgacgacaac	7	9	1	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:41554898T>C	uc004dfp.3	+	3	296	c.12T>C	c.(10-12)CAT>CAC	p.H4H	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Silent_p.H4H|GPR34_uc010nhg.2_Silent_p.H4H|GPR34_uc004dfr.3_Silent_p.H4H	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	4	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						TGAGAAGTCATACCATAACAA	0.413													C	41554898	T	C	41554898	2	2	158	1	0	0	0	0	0	0	0	1	6689	1403	49	3		3	GPR34	23	41554898	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	11581147	41554898	113715662	2947	86728											
GPR82	27197	broad.mit.edu	37	chrX	41586527	41586530	+	Frame_Shift_Del	DEL	ATCA	ATCA	-													gaaaggtttccaatgggaatAtcaatctgctcaatgcagag							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:41586527_41586530delATCA	uc004dfs.1	+	3	488_491	c.248_251delATCA	c.(247-252)TATCAAfs	p.Y83fs	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Frame_Shift_Del_p.Y83fs|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	83_84	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CAATGGGAATATCAATCTGCTCAA	0.422													-	41586530	ATCA	-	41586527	7	5	158	1	0	1	0	1	0	0	0	0	6712	449	16	0	250	0	GPR82	23	41586527	Frame_Shift_Del	DEL	ATCA	TCGA-CD-A4MG-01A-11D-A25D-08	31629	41586527	113684033	2948	86729											
SLC9A7	84679	broad.mit.edu	37	chrX	46521972	46521972	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaacactgctacttaCgaggacagtacaatggcaac	9	10	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:46521972C>T	uc004dgu.1	-	6	907	c.899_splice	c.e6+1	p.S300_splice	SLC9A7_uc004dgv.1_Splice_Site_p.S300_splice	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7						regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						CTGCTACTTACGAGGACAGTA	0.418													T	46521972	C	T	46521972	5	4	158	1	0	0	0	0	0	0	1	0	14719	550	19	1	1325	1	SLC9A7	23	46521972	Splice_Site	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4935445	46521972	108748588	2949	86730											
UBA1	7317	broad.mit.edu	37	chrX	47062550	47062550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgccagaaccgttatgaCgggcaagtggctgtgtttgg	15	8	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:47062550C>T	uc004dhj.3	+	13	1507	c.1356C>T	c.(1354-1356)GAC>GAT	p.D452D	UBA1_uc004dhk.3_Silent_p.D452D|INE1_uc004dhl.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	452	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						ACCGTTATGACGGGCAAGTGG	0.557													T	47062550	C	T	47062550	2	4	158	1	0	0	0	0	0	0	0	1	16824	535	19	1		1	UBA1	23	47062550	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	540578	47062550	108208010	2950	86731											
ARAF	369	broad.mit.edu	37	chrX	47426415	47426415	+	Frame_Shift_Del	DEL	C	C	-													tagaggaggtagtgatggaaCcccccgggggagccccagcc							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:47426415delC	uc011mlq.1	+	9	891	c.758delC	c.(757-759)ACCfs	p.T253fs	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Frame_Shift_Del_p.T119fs|ARAF_uc011mlp.1_Frame_Shift_Del_p.T253fs|ARAF_uc004dic.1_Frame_Shift_Del_p.T34fs	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	253					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGTGATGGAACCCCCCGGGGG	0.652													-	47426415	C	-	47426415	7	5	158	1	0	1	0	1	0	0	0	0	837	507	18	0	788	0	ARAF	23	47426415	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	363865	47426415	107844145	2951	86732											
ARAF	369	broad.mit.edu	37	chrX	47426715	47426715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggatcgggacgggctcGtttggcaccgtgtttcgagg	17	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:47426715G>A	uc011mlq.1	+	10	1093	c.960G>A	c.(958-960)TCG>TCA	p.S320S	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Silent_p.S186S|ARAF_uc011mlp.1_Silent_p.S320S|ARAF_uc004dic.1_Silent_p.S101S	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	320	ATP (By similarity).|Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	GGACGGGCTCGTTTGGCACCG	0.612													A	47426715	G	A	47426715	2	1	158	1	0	0	0	0	0	0	0	1	837	1132	40	1		1	ARAF	23	47426715	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	300	47426715	107843845	2952	86733											
SSX1	6756	broad.mit.edu	37	chrX	48123236	48123236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatgcccaagaagccagCagaggacgaaaatgattcga	11	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:48123236C>T	uc004djb.1	+	6	441	c.350C>T	c.(349-351)GCA>GTA	p.A117V		NM_005635	NP_005626	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)	soft_tissue(1169)	1169						AAGAAGCCAGCAGAGGACGAA	0.348													T	48123236	C	T	48123236	3	4	158	1	0	0	0	0	1	0	0	0	15202	710	25	2	368	2	SSX1	23	48123236	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	696521	48123236	107147324	2953	86734											
GPKOW	27238	broad.mit.edu	37	chrX	48979945	48979945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaaatccttctcctccGgagatggccccgcgccgtct	9	16	3	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:48979945G>T	uc004dmr.2	-	1	135	c.128C>A	c.(127-129)CCG>CAG	p.P43Q		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	43						nucleus	nucleic acid binding			ovary(2)	2						CTTCTCCTCCGGAGATGGCCC	0.642													T	48979945	G	T	48979945	3	4	158	1	0	0	0	0	1	0	0	0	6613	1116	39	5	1346	5	GPKOW	23	48979945	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	856709	48979945	106290615	2954	86735											
MAGED1	9500	broad.mit.edu	37	chrX	51639617	51639617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccactcagaacccacctgGcgcaccccccaatgtgctct	7	19	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:51639617G>A	uc004dpm.2	+	4	961	c.866G>A	c.(865-867)GGC>GAC	p.G289D	MAGED1_uc004dpn.2_Missense_Mutation_p.G345D|MAGED1_uc004dpo.2_Missense_Mutation_p.G289D	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	289	Pro-rich.				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			ovary(3)	3	Ovarian(276;0.236)					AACCCACCTGGCGCACCCCCC	0.622										Multiple Myeloma(10;0.10)			A	51639617	G	A	51639617	3	1	158	1	0	0	0	0	1	0	0	0	9183	1203	42	2	1048	2	MAGED1	23	51639617	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2659672	51639617	103630943	2955	86736											
IQSEC2	23096	broad.mit.edu	37	chrX	53280145	53280145	+	Frame_Shift_Del	DEL	G	G	-													actcgggccggccctggggtGggggttctgtgctgggcagt							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:53280145delG	uc004dsd.2	-	5	1814	c.1613delC	c.(1612-1614)CCAfs	p.P538fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P333fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	528	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						GCCCTGGGGTGGGGGTTCTGT	0.637													-	53280145	G	-	53280145	7	5	158	1	0	1	0	1	0	0	0	0	7818	1348	47	0	2897	0	IQSEC2	23	53280145	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	1640528	53280145	101990415	2956	86737											
HUWE1	10075	broad.mit.edu	37	chrX	53575080	53575080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttccggctgacattcatgTtgtccagttttaccaataag	7	10	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:53575080T>C	uc004dsp.2	-	68	10592	c.10190A>G	c.(10189-10191)AAC>AGC	p.N3397S	HUWE1_uc004dsn.2_Missense_Mutation_p.N2205S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3397					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GACATTCATGTTGTCCAGTTT	0.552													C	53575080	T	C	53575080	3	2	158	1	0	0	0	0	1	0	0	0	7461	1725	60	3	3002	3	HUWE1	23	53575080	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	294935	53575080	101695480	2957	86738											
TRO	7216	broad.mit.edu	37	chrX	54957418	54957418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctttggcagtggagccGccagtcttggtgcctgtggc	16	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:54957418G>A	uc004dtq.2	+	12	4368	c.4261G>A	c.(4261-4263)GCC>ACC	p.A1421T	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.A952T|TRO_uc004dtw.2_Missense_Mutation_p.A1024T|TRO_uc004dtx.2_Missense_Mutation_p.A804T	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1421	62; approximate.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CAGTGGAGCCGCCAGTCTTGG	0.592													A	54957418	G	A	54957418	3	1	158	1	0	0	0	0	1	0	0	0	16571	1087	38	1	4303	1	TRO	23	54957418	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1382338	54957418	100313142	2958	86739											
APEX2	27301	broad.mit.edu	37	chrX	55028042	55028042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctatttcagcttcagccGcaaccgtagcggctattctg	8	14	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:55028042G>A	uc004dtz.2	+	2	297	c.221G>A	c.(220-222)CGC>CAC	p.R74H	APEX2_uc011mom.1_5'UTR	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	74					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)	1						AGCTTCAGCCGCAACCGTAGC	0.448								Other_BER_factors					A	55028042	G	A	55028042	3	1	158	1	0	0	0	0	1	0	0	0	770	1087	38	1	227	1	APEX2	23	55028042	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	70624	55028042	100242518	2959	86740											
FAAH2	158584	broad.mit.edu	37	chrX	57313352	57313352	+	Frame_Shift_Del	DEL	G	G	-													gccgagcagctttagtcttaGggggtccaaagtttgcctca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:57313352delG	uc004dvc.2	+	1	243	c.94delG	c.(94-96)GGGfs	p.G32fs		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	32						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						TTTAGTCTTAGGGGGTCCAAA	0.557										HNSCC(52;0.14)			-	57313352	G	-	57313352	7	5	158	1	0	1	0	1	0	0	0	0	5354	1000	35	0	96	0	FAAH2	23	57313352	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	2285310	57313352	97957208	2960	86741											
ZXDA	7789	broad.mit.edu	37	chrX	57935808	57935808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatggcccttcatgtgCgccttgaggttgtacacggt	12	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:57935808C>T	uc004dve.2	-	1	1260	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	349	C2H2-type 3.|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			ovary(1)	1						CCTTCATGTGCGCCTTGAGGT	0.617													T	57935808	C	T	57935808	2	4	158	1	0	0	0	0	0	0	0	1	18247	755	27	1		1	ZXDA	23	57935808	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	622456	57935808	97334752	2961	86742											
HEPH	9843	broad.mit.edu	37	chrX	65412069	65412069	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtacttcattgaggcccaTgagattcaatgggactatgg	11	8	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:65412069T>C	uc011moz.1	+	7	1230	c.1170T>C	c.(1168-1170)CAT>CAC	p.H390H	HEPH_uc004dwn.2_Silent_p.H390H|HEPH_uc004dwo.2_Silent_p.H120H|HEPH_uc010nkr.2_Silent_p.H390H|HEPH_uc011mpa.1_Silent_p.H390H	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	387	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						TTGAGGCCCATGAGATTCAAT	0.532													C	65412069	T	C	65412069	2	2	158	1	0	0	0	0	0	0	0	1	7054	1461	51	3		3	HEPH	23	65412069	Silent	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	7476261	65412069	89858491	2962	86743											
PJA1	64219	broad.mit.edu	37	chrX	68382235	68382235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagtactgtgtggcaTatcgtcatcatcatcagtat	9	9	4	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:68382235T>C	uc004dxh.2	-	2	1133	c.847A>G	c.(847-849)ATG>GTG	p.M283V	PJA1_uc011mpi.1_Missense_Mutation_p.M1V|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.M228V	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	283							zinc ion binding				0						CTGTGTGGCATATCGTCATCA	0.498													C	68382235	T	C	68382235	3	2	158	1	0	0	0	0	1	0	0	0	11961	1406	49	3	1088	3	PJA1	23	68382235	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2970166	68382235	86888325	2963	86744											
FAM155B	27112	broad.mit.edu	37	chrX	68725856	68725856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcctgggaggcgtgtaGcaactgtatcgaggcgtacc	17	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:68725856G>A	uc004dxk.2	+	1	779	c.731G>A	c.(730-732)AGC>AAC	p.S244N		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	244						integral to membrane				ovary(1)|breast(1)	2						GAGGCGTGTAGCAACTGTATC	0.622													A	68725856	G	A	68725856	3	1	158	1	0	0	0	0	1	0	0	0	5466	971	34	2	733	2	FAM155B	23	68725856	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	343621	68725856	86544704	2964	86745											
NHSL2	340527	broad.mit.edu	37	chrX	71359622	71359622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccccctccaagcagcagtGtccgggtacgtccagtggta	11	14	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:71359622G>A	uc011mqa.1	+	6	2224	c.2224G>A	c.(2224-2226)GTC>ATC	p.V742I	NHSL2_uc004eak.1_Missense_Mutation_p.V376I|NHSL2_uc010nli.2_Missense_Mutation_p.V511I	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	742											0	Renal(35;0.156)					AAGCAGCAGTGTCCGGGTACG	0.557													A	71359622	G	A	71359622	3	1	158	1	0	0	0	0	1	0	0	0	10412	1377	48	4	2246	4	NHSL2	23	71359622	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	2633766	71359622	83910938	2965	86746											
NHSL2	340527	broad.mit.edu	37	chrX	71360413	71360414	+	Frame_Shift_Ins	INS	-	-	A													agattccacctcccgtaccaINSaaaaaacccagcgtgctgta							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:71360412_71360413C>CA	uc011mqa.2	+	5	3014_3015	c.3014_3015C>CA	c.(3013-3015)ccafs	p.P1005fs	NHSL2_uc004eak.1_Frame_Shift_Ins_p.P639fs|NHSL2_uc010nli.2_Frame_Shift_Ins_p.P774fs	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1005										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTCCCGTACCAAAAAAACCCA	0.55													A	71360414	-	A	71360413	7	5	158	1	0	1	1	0	0	0	0	0	10412	117	5	0	3037	0	NHSL2	23	71360413	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	791	71360413	83910147	2966	86747											
CITED1	4435	broad.mit.edu	37	chrX	71522039	71522039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaatggccactgctttgCgatctttcaccgcaaggttg	11	11	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:71522039C>T	uc011mqd.1	-	3	271	c.116G>A	c.(115-117)CGC>CAC	p.R39H	CITED1_uc011mqc.1_Missense_Mutation_p.R65H|CITED1_uc004eas.2_Missense_Mutation_p.R39H|CITED1_uc004eat.2_Missense_Mutation_p.R39H	NM_001144887	NP_001138359	Q99966	CITE1_HUMAN	melanocyte-specific gene 1 isoform 1	39					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding				0	Renal(35;0.156)					CACTGCTTTGCGATCTTTCAC	0.547													T	71522039	C	T	71522039	3	4	158	1	0	0	0	0	1	0	0	0	3439	768	27	1	469	1	CITED1	23	71522039	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	161626	71522039	83748521	2967	86748											
ATRX	546	broad.mit.edu	37	chrX	76938181	76938181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattatccattccttttttgCtgtgtttctcatcttcagaa	5	9	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:76938181C>T	uc004ecp.3	-	9	2799	c.2567G>A	c.(2566-2568)AGC>AAC	p.S856N	ATRX_uc004ecq.3_Missense_Mutation_p.S818N|ATRX_uc004eco.3_Missense_Mutation_p.S641N|ATRX_uc004ecr.2_Missense_Mutation_p.S788N|ATRX_uc010nlx.1_Missense_Mutation_p.S827N|ATRX_uc010nly.1_Missense_Mutation_p.S801N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	856					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TCCTTTTTTGCTGTGTTTCTC	0.299			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76938181	C	T	76938181	3	4	158	1	0	0	0	0	1	0	0	0	1208	797	28	2	5019	2	ATRX	23	76938181	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	5416142	76938181	78332379	2968	86749											
P2RY10	27334	broad.mit.edu	37	chrX	78216846	78216846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaccatcattagcagtTgtcccgttgtccgaatcgca	9	11	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:78216846T>C	uc004ede.2	+	4	1198	c.829T>C	c.(829-831)TGT>CGT	p.C277R	P2RY10_uc004edf.2_Missense_Mutation_p.C277R	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	277	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CATTAGCAGTTGTCCCGTTGT	0.418													C	78216846	T	C	78216846	3	2	158	1	0	0	0	0	1	0	0	0	11347	1812	63	3	831	3	P2RY10	23	78216846	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	1278665	78216846	77053714	2969	86750											
FAM46D	169966	broad.mit.edu	37	chrX	79698606	79698606	+	Frame_Shift_Del	DEL	A	A	-													tgttagacttctacagtgacAaaaatgccaagctaaccaaa							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:79698606delA	uc004edl.1	+	5	902	c.568delA	c.(568-570)AAAfs	p.K190fs	FAM46D_uc004edm.1_Frame_Shift_Del_p.K190fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	190										lung(2)	2						CTACAGTGACAAAAATGCCAA	0.383													-	79698606	A	-	79698606	7	5	158	1	0	1	0	1	0	0	0	0	5568	131	5	0	570	0	FAM46D	23	79698606	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	1481760	79698606	75571954	2970	86751											
CHM	1121	broad.mit.edu	37	chrX	85213976	85213976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattagtaatcctcgagaatAcagcagctgtacaaagaaaa	7	7	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:85213976A>G	uc004eet.2	-	6	739	c.709T>C	c.(709-711)TAT>CAT	p.Y237H	CHM_uc011mqz.1_Missense_Mutation_p.Y89H	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	237					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				CCTCGAGAATACAGCAGCTGT	0.269													G	85213976	A	G	85213976	3	3	158	1	0	0	0	0	1	0	0	0	3350	391	14	3	1292	3	CHM	23	85213976	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	5515370	85213976	70056584	2971	86752											
FAM133A	286499	broad.mit.edu	37	chrX	92964950	92964950	+	Frame_Shift_Del	DEL	A	A	-													aggatgtaagaagcctcagcAaaaaaagaaagaaaagttac							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:92964950delA	uc004efr.1	+	4	845	c.532delA	c.(532-534)AAAfs	p.K178fs		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	178	Ser-rich.|Lys-rich.										0						AAGCCTCAGCAAAAAAAGAAA	0.363													-	92964950	A	-	92964950	7	5	158	1	0	1	0	1	0	0	0	0	5443	131	5	0	534	0	FAM133A	23	92964950	Frame_Shift_Del	DEL	A	TCGA-CD-A4MG-01A-11D-A25D-08	7750974	92964950	62305610	2972	86753											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667961	100667961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgatggcagagttaccGgtgaggcagatgttgaattt	14	7	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:100667961G>A	uc004ehm.2	+	2	1155	c.985G>A	c.(985-987)GGT>AGT	p.G329S	HNRNPH2_uc004ehn.2_Missense_Mutation_p.G329S	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	329	RRM 3.|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				0						CAGAGTTACCGGTGAGGCAGA	0.403													A	100667961	G	A	100667961	3	1	158	1	0	0	0	0	1	0	0	0	7267	1116	39	1	987	1	HNRNPH2	23	100667961	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	7703011	100667961	54602599	2973	86754											
ARMCX2	9823	broad.mit.edu	37	chrX	100911457	100911457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttcataaggaaaggggCgcttctgcatggcaacgggt	13	8	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:100911457C>T	uc004eid.2	-	3	1473	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	ARMCX2_uc004eie.3_Missense_Mutation_p.R373H|ARMCX2_uc004eif.3_Missense_Mutation_p.R373H|ARMCX2_uc004eig.3_Missense_Mutation_p.R373H|ARMCX2_uc010nnt.2_Missense_Mutation_p.R373H	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	373						integral to membrane	binding			ovary(6)	6						AGGAAAGGGGCGCTTCTGCAT	0.537													T	100911457	C	T	100911457	3	4	158	1	0	0	0	0	1	0	0	0	960	768	27	1	784	1	ARMCX2	23	100911457	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	243496	100911457	54359103	2974	86755											
ARMCX2	9823	broad.mit.edu	37	chrX	100912607	100912607	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttattcactgatccagggcGtggaactggattgcttaagg	13	7	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:100912607G>A	uc004eid.2	-	3	323	c.-32C>T	c.(-34--30)CACGC>CATGC		ARMCX2_uc004eie.3_Translation_Start_Site|ARMCX2_uc004eif.3_Translation_Start_Site|ARMCX2_uc004eig.3_Translation_Start_Site|ARMCX2_uc010nnt.2_Translation_Start_Site	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein							integral to membrane	binding			ovary(6)	6						GATCCAGGGCGTGGAACTGGA	0.582													A	100912607	G	A	100912607	1	1	158	1	0	0	0	0	0	0	0	0	960	1160	40	1		1	ARMCX2	23	100912607	Translation_Start_Site	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1150	100912607	54357953	2975	86756											
TCEAL3	85012	broad.mit.edu	37	chrX	102864035	102864035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaaggaaacctggaaaacGagggaaagccagaagatgaa	13	5	0	4			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:102864035G>A	uc004ekq.2	+	3	305	c.43G>A	c.(43-45)GAG>AAG	p.E15K	TCEAL3_uc004ekr.2_Missense_Mutation_p.E15K	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	15	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CCTGGAAAACgagggaaagcc	0.234													A	102864035	G	A	102864035	3	1	158	1	0	0	0	0	1	0	0	0	15669	1059	37	1	45	1	TCEAL3	23	102864035	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	1951428	102864035	52406525	2976	86757											
PRPS1	5631	broad.mit.edu	37	chrX	106888571	106888571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggcacaatctgccatgCagctgacaagtaagtgtgga	12	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:106888571C>T	uc004ene.3	+	5	900	c.695C>T	c.(694-696)GCA>GTA	p.A232V	PRPS1_uc010npg.2_Missense_Mutation_p.A199V|PRPS1_uc011msj.1_Missense_Mutation_p.A28V	NM_002764	NP_002755	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	232					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)|large_intestine(1)	4						ATCTGCCATGCAGCTGACAAG	0.502													T	106888571	C	T	106888571	3	4	158	1	0	0	0	0	1	0	0	0	12578	710	25	2	713	2	PRPS1	23	106888571	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	4024536	106888571	48381989	2977	86758											
COL4A5	1287	broad.mit.edu	37	chrX	107783022	107783022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgactgcagtggcaTaaaaggggaaaaggtgaggt	16	3	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:107783022T>C	uc004enz.1	+	2	330	c.128T>C	c.(127-129)ATA>ACA	p.I43T	COL4A5_uc011mso.1_Missense_Mutation_p.I43T	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	43	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						TGCAGTGGCATAAAAGGGGAA	0.338									Alport_syndrome_with_Diffuse_Leiomyomatosis				C	107783022	T	C	107783022	3	2	158	1	0	0	0	0	1	0	0	0	3694	1406	49	3	134	3	COL4A5	23	107783022	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	894451	107783022	47487538	2978	86759											
COL4A5	1287	broad.mit.edu	37	chrX	107834414	107834414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacggacagcctggggctcCtgggcttccagggcctcctg	15	14	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:107834414C>T	uc004enz.1	+	20	1494	c.1292C>T	c.(1291-1293)CCT>CTT	p.P431L	COL4A5_uc011mso.1_Missense_Mutation_p.P431L|COL4A5_uc004eob.1_Missense_Mutation_p.P39L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	431	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CCTGGGGCTCCTGGGCTTCCA	0.493									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107834414	C	T	107834414	3	4	158	1	0	0	0	0	1	0	0	0	3694	681	24	4	1370	4	COL4A5	23	107834414	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	51392	107834414	47436146	2979	86760											
LUZP4	51213	broad.mit.edu	37	chrX	114524366	114524366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgctttctgaaaaagtgcCgccaaatcatcccagtcgga	8	12	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:114524366C>T	uc004eqa.2	+	1	75	c.41C>T	c.(40-42)CCG>CTG	p.P14L	LUZP4_uc004eqb.2_5'UTR	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	14						nucleus				ovary(2)	2						GAAAAAGTGCCGCCAAATCAT	0.522													T	114524366	C	T	114524366	3	4	158	1	0	0	0	0	1	0	0	0	9088	652	23	1	43	1	LUZP4	23	114524366	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	6689952	114524366	40746194	2980	86761											
FAM70A	55026	broad.mit.edu	37	chrX	119394878	119394878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggatggaaagacaccGgaatgctgtgtgataaaaag	16	4	0	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:119394878G>A	uc004eso.3	-	10	1124	c.897C>T	c.(895-897)TCC>TCT	p.S299S	FAM70A_uc004esp.3_Silent_p.S275S|FAM70A_uc010nqo.2_Silent_p.S191S	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	299	Pro-rich.					integral to membrane				lung(1)|breast(1)	2						GAAAGACACCGGAATGCTGTG	0.473													A	119394878	G	A	119394878	2	1	158	1	0	0	0	0	0	0	0	1	5605	1103	39	1		1	FAM70A	23	119394878	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	4870512	119394878	35875682	2981	86762											
ODZ1	10178	broad.mit.edu	37	chrX	123839039	123839039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtattggatgtcagagggTagttctgactggctgcactg	15	7	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:123839039T>C	uc004euj.2	-	5	903	c.839A>G	c.(838-840)TAC>TGC	p.Y280C	ODZ1_uc011muj.1_Missense_Mutation_p.Y280C|ODZ1_uc010nqy.2_Missense_Mutation_p.Y280C	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	280	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGTCAGAGGGTAGTTCTGACT	0.493													C	123839039	T	C	123839039	3	2	158	1	0	0	0	0	1	0	0	0	10834	1638	57	3	7471	3	ODZ1	23	123839039	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	4444161	123839039	31431521	2982	86763											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298773	125298773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaggaacttctgggCgcggatgtcatagaagagca	12	11	2	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:125298773C>T	uc004euk.1	-	1	1162	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	379	WD 4.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						AACTTCTGGGCGCGGATGTCA	0.637													T	125298773	C	T	125298773	3	4	158	1	0	0	0	0	1	0	0	0	4265	768	27	1	260	1	DCAF12L2	23	125298773	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1459734	125298773	29971787	2983	86764											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299138	125299138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggttgctggggttggtgCtggccctggggatggcctcc	19	10	0	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:125299138C>T	uc004euk.1	-	1	797	c.770G>A	c.(769-771)AGC>AAC	p.S257N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	257										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGGGTTGGTGCTGGCCCTGGG	0.617													T	125299138	C	T	125299138	3	4	158	1	0	0	0	0	1	0	0	0	4265	797	28	2	625	2	DCAF12L2	23	125299138	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	365	125299138	29971422	2984	86765											
ELF4	2000	broad.mit.edu	37	chrX	129205114	129205114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaccagtttgaagatgCctttctctcgctgggtccac	9	13	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:129205114C>T	uc004evd.3	-	7	1095	c.710G>A	c.(709-711)GGC>GAC	p.G237D	ELF4_uc004eve.3_Missense_Mutation_p.G237D	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	237	ETS.				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			ovary(1)	1						TTTGAAGATGCCTTTCTCTCG	0.522			T	ERG	AML								T	129205114	C	T	129205114	3	4	158	1	0	0	0	0	1	0	0	0	5056	739	26	2	1293	2	ELF4	23	129205114	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3905976	129205114	26065446	2985	86766											
IGSF1	3547	broad.mit.edu	37	chrX	130411032	130411032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattagaaagtgagctgcaCtggcccccggacttgcccag	12	12	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:130411032C>T	uc004ewd.2	-	14	2727	c.2489G>A	c.(2488-2490)AGT>AAT	p.S830N	IGSF1_uc004ewe.3_Missense_Mutation_p.S824N|IGSF1_uc004ewf.2_Missense_Mutation_p.S810N	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	830	Extracellular (Potential).|Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GTGAGCTGCACTGGCCCCCGG	0.493													T	130411032	C	T	130411032	3	4	158	1	0	0	0	0	1	0	0	0	7596	565	20	4	1549	4	IGSF1	23	130411032	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	1205918	130411032	24859528	2986	86767											
IGSF1	3547	broad.mit.edu	37	chrX	130411957	130411957	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtaaagaaggcttcTcttccaacagcaccaagttg	9	9	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:130411957T>G	uc004ewd.2	-	13	2431	c.2193A>C	c.(2191-2193)AGA>AGC	p.R731S	IGSF1_uc004ewe.3_Missense_Mutation_p.R725S|IGSF1_uc004ewf.2_Missense_Mutation_p.R711S	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	731	Extracellular (Potential).|Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						AGAAGGCTTCTCTTCCAACAG	0.507													G	130411957	T	G	130411957	3	3	158	1	0	0	0	0	1	0	0	0	7596	1548	54	5	1849	5	IGSF1	23	130411957	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	925	130411957	24858603	2987	86768											
PHF6	84295	broad.mit.edu	37	chrX	133547614	133547614	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggccaagaaaaactaAttttaaagggctgtcagaag	11	5	1	2			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:133547614A>T	uc004exj.2	+	6	714	c.512A>T	c.(511-513)AAT>ATT	p.N171I	PHF6_uc004exk.2_Missense_Mutation_p.N171I|PHF6_uc011mvk.1_Missense_Mutation_p.N137I|PHF6_uc004exh.2_Missense_Mutation_p.N172I|PHF6_uc010nrr.2_Missense_Mutation_p.N171I|PHF6_uc004exi.2_Missense_Mutation_p.N172I	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGAAAAACTAATTTTAAAGGG	0.368													T	133547614	A	T	133547614	3	4	158	1	0	0	0	0	1	0	0	0	11838	101	4	5	533	5	PHF6	23	133547614	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	3135657	133547614	21722946	2988	86769											
SAGE1	55511	broad.mit.edu	37	chrX	134983781	134983781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaaagaaacattccAgaaaatccaagagacactct	5	9	1	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:134983781A>G	uc004ezh.2	+	3	318	c.151A>G	c.(151-153)AGA>GGA	p.R51G	SAGE1_uc010nry.1_Missense_Mutation_p.R51G|SAGE1_uc011mvv.1_Missense_Mutation_p.R51G	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	51										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GAAACATTCCAGAAAATCCAA	0.408													G	134983781	A	G	134983781	3	3	158	1	0	0	0	0	1	0	0	0	13809	180	7	3	157	3	SAGE1	23	134983781	Missense_Mutation	SNP	A	TCGA-CD-A4MG-01A-11D-A25D-08	1436167	134983781	20286779	2989	86770											
SLC9A6	10479	broad.mit.edu	37	chrX	135080303	135080303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtatttttcaacatattaCttcctcctatcatattttat	1	8	2	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:135080303C>T	uc004ezj.2	+	3	542	c.466C>T	c.(466-468)CTT>TTT	p.L156F	SLC9A6_uc004ezk.2_Missense_Mutation_p.L188F|SLC9A6_uc011mvx.1_Missense_Mutation_p.L136F	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	156	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CAACATATTACTTCCTCCTAT	0.303													T	135080303	C	T	135080303	3	4	158	1	0	0	0	0	1	0	0	0	14718	565	20	4	572	4	SLC9A6	23	135080303	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	96522	135080303	20190257	2990	86771											
MAP7D3	79649	broad.mit.edu	37	chrX	135313015	135313015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttagtgctgatgggagaCggcagaccacaagcattttc	11	9	0	3			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:135313015C>T	uc004ezt.2	-	9	1615	c.1524G>A	c.(1522-1524)CCG>CCA	p.P508P	MAP7D3_uc004ezs.2_Silent_p.P472P|MAP7D3_uc011mwc.1_Silent_p.P490P|MAP7D3_uc010nsa.1_Silent_p.P466P	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	508						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGATGGGAGACGGCAGACCAC	0.403													T	135313015	C	T	135313015	2	4	158	1	0	0	0	0	0	0	0	1	9269	523	19	1		1	MAP7D3	23	135313015	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	232712	135313015	19957545	2991	86772											
GPR112	139378	broad.mit.edu	37	chrX	135429585	135429585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgccacatatcgtgtacaCacaccagtgtccatccagtt	6	14	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:135429585C>A	uc004ezu.1	+	6	4011	c.3720C>A	c.(3718-3720)CAC>CAA	p.H1240Q	GPR112_uc010nsb.1_Missense_Mutation_p.H1035Q|GPR112_uc010nsc.1_Missense_Mutation_p.H1007Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1240	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATCGTGTACACACACCAGTGT	0.463													A	135429585	C	A	135429585	3	1	158	1	0	0	0	0	1	0	0	0	6629	477	17	5	3730	5	GPR112	23	135429585	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	116570	135429585	19840975	2992	86773											
AFF2	2334	broad.mit.edu	37	chrX	147744112	147744112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaagccaactgcataCgtcagacccatggatggcca	9	13	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:147744112C>T	uc004fcp.2	+	3	1343	c.864C>T	c.(862-864)TAC>TAT	p.Y288Y	AFF2_uc004fco.2_Silent_p.Y284Y|AFF2_uc004fcq.2_Silent_p.Y284Y|AFF2_uc004fcr.2_Silent_p.Y284Y|AFF2_uc011mxb.1_Silent_p.Y288Y|AFF2_uc004fcs.2_Silent_p.Y284Y	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	288					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGCATACGTCAGACCCA	0.478													T	147744112	C	T	147744112	2	4	158	1	0	0	0	0	0	0	0	1	357	547	19	1		1	AFF2	23	147744112	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	12314527	147744112	7526448	2993	86774											
MAGEA5	4104	broad.mit.edu	37	chrX	151283859	151283859	+	Frame_Shift_Del	DEL	C	C	-													tgacccagcagcaggcacctCccccagggtgcctgggacca							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:151283859delC	uc004ffj.2	-	3	359	c.154delG	c.(154-156)GAGfs	p.E52fs		NM_021049	NP_066387	P43359	MAGA5_HUMAN	melanoma antigen family A, 5	52	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGCACCTCCCCCAGGGTG	0.622													-	151283859	C	-	151283859	7	5	158	1	0	1	0	1	0	0	0	0	9169	864	30	0	224	0	MAGEA5	23	151283859	Frame_Shift_Del	DEL	C	TCGA-CD-A4MG-01A-11D-A25D-08	3539747	151283859	3986701	2994	86775											
GABRQ	55879	broad.mit.edu	37	chrX	151821168	151821168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttctctctcaggccaGgcccccctggccactggaga	9	18	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:151821168G>T	uc004ffp.1	+	9	1343	c.1323G>T	c.(1321-1323)CAG>CAT	p.Q441H		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	441						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			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAGGCCAGGCCCCCCTGG	0.622													T	151821168	G	T	151821168	3	4	158	1	0	0	0	0	1	0	0	0	6175	991	35	5	1357	5	GABRQ	23	151821168	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	537309	151821168	3449392	2995	86776											
MAGEA3	4102	broad.mit.edu	37	chrX	151935274	151935274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggtgggtaggaaatgTgaggtcctccactgatcttt	15	7	1	2	rs35987457	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:151935274T>C	uc004fgp.2	-	3	1102	c.893A>G	c.(892-894)CAC>CGC	p.H298R		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	298	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GTAGGAAATGTGAGGTCCTCC	0.552													C	151935274	T	C	151935274	3	2	158	1	0	0	0	0	1	0	0	0	9167	1696	59	3	55	3	MAGEA3	23	151935274	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	114106	151935274	3335286	2996	86777											
PNMA5	114824	broad.mit.edu	37	chrX	152159092	152159093	+	Frame_Shift_Ins	INS	-	-	C													cttgcctgtctaccggaggcINScccccggcctctccctgatg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:152159091_152159092G>GC	uc022chn.1	-	0	1051_1052	c.1051_1052C>GC	c.(1051-1053)gccfs	p.A351fs	PNMA5_uc010ntx.3_Frame_Shift_Ins_p.A351fs|PNMA5_uc010ntw.3_Frame_Shift_Ins_p.A351fs|PNMA5_uc004fgy.4_Frame_Shift_Ins_p.A351fs|PNMA5_uc022chm.1_Frame_Shift_Ins_p.A351fs	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	351					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)					TCTACCGGAGGCCCCCCGGCCT	0.55													C	152159093	-	C	152159092	7	5	158	1	0	1	1	0	0	0	0	0	12156	739	26	0	299	0	PNMA5	23	152159092	Frame_Shift_Ins	INS	-	TCGA-CD-A4MG-01A-11D-A25D-08	223818	152159092	3111468	2997	86778											
ATP2B3	492	broad.mit.edu	37	chrX	152821867	152821867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaccgacaagcacacaCtggtcaaaggtagccgagcc	9	16	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:152821867C>T	uc004fht.1	+	13	2443	c.2317C>T	c.(2317-2319)CTG>TTG	p.L773L	ATP2B3_uc004fhs.1_Silent_p.L773L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	773	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCACACACTGGTCAAAGG	0.627													T	152821867	C	T	152821867	2	4	158	1	0	0	0	0	0	0	0	1	1141	564	20	4		4	ATP2B3	23	152821867	Silent	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	662775	152821867	2448693	2998	86779											
ATP2B3	492	broad.mit.edu	37	chrX	152825264	152825264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctctggccctggcgacGgagccacccacagagtcgct	12	17	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:152825264G>A	uc004fht.1	+	16	2829	c.2703G>A	c.(2701-2703)ACG>ACA	p.T901T	ATP2B3_uc004fhs.1_Silent_p.T901T|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	901	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGCGACGGAGCCACCCA	0.597													A	152825264	G	A	152825264	2	1	158	1	0	0	0	0	0	0	0	1	1141	1103	39	1		1	ATP2B3	23	152825264	Silent	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	3397	152825264	2445296	2999	86780											
SSR4	6748	broad.mit.edu	37	chrX	153063257	153063257	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgacgaggagtcctacagCctcctcaggaaggtgaggac	13	11	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153063257C>G	uc004fiw.2	+	4	388	c.339C>G	c.(337-339)AGC>AGG	p.S113R	SSR4_uc004fiv.2_Missense_Mutation_p.S124R	NM_006280	NP_006271	P51571	SSRD_HUMAN	signal sequence receptor, delta precursor	113	Lumenal (Potential).				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding				0	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)					AGTCCTACAGCCTCCTCAGGA	0.612													G	153063257	C	G	153063257	3	3	158	1	0	0	0	0	1	0	0	0	15192	738	26	5	353	5	SSR4	23	153063257	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	237993	153063257	2207303	3000	86781											
HCFC1	3054	broad.mit.edu	37	chrX	153221775	153221775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaaggtggtgatgggcGtggccagggaagcactagtg	18	8	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153221775G>A	uc004fjp.2	-	16	3251	c.2723C>T	c.(2722-2724)ACG>ATG	p.T908M		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	908	Interaction with GABP2.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGATGGGCGTGGCCAGGGA	0.642													A	153221775	G	A	153221775	3	1	158	1	0	0	0	0	1	0	0	0	6991	1145	40	1	3428	1	HCFC1	23	153221775	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	158518	153221775	2048785	3001	86782											
HCFC1	3054	broad.mit.edu	37	chrX	153228738	153228738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgccgtagatcaccagcTtggacttcttattgtctttt	7	12	3	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153228738T>C	uc004fjp.2	-	4	1178	c.650A>G	c.(649-651)AAG>AGG	p.K217R		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	217	Kelch 4.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCACCAGCTTGGACTTCTT	0.577													C	153228738	T	C	153228738	3	2	158	1	0	0	0	0	1	0	0	0	6991	1609	56	3	5549	3	HCFC1	23	153228738	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	6963	153228738	2041822	3002	86783											
MECP2	4204	broad.mit.edu	37	chrX	153295823	153295823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccgtgtaaagtcagcTaactctctcggtcacgggcg	11	14	3	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153295823T>G	uc004fjv.2	-	4	1682	c.1456A>C	c.(1456-1458)AGC>CGC	p.S486R	MECP2_uc004fjw.2_Missense_Mutation_p.S498R	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	486					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				0	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)					TAAAGTCAGCTAACTCTCTCG	0.537													G	153295823	T	G	153295823	3	3	158	1	0	0	0	0	1	0	0	0	9423	1522	53	5	8	5	MECP2	23	153295823	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	67085	153295823	1974737	3003	86784											
FLNA	2316	broad.mit.edu	37	chrX	153589691	153589691	+	Frame_Shift_Del	DEL	G	G	-													attaccttgctaggcttggtGggggccacagcttccagagg							TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153589691delG	uc004fkk.2	-	21	3441	c.3192delC	c.(3190-3192)CCCfs	p.P1064fs	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Frame_Shift_Del_p.P1064fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1064	Filamin 9.				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)					TAGGCTTGGTGGGGGCCACAG	0.622													-	153589691	G	-	153589691	7	5	158	1	0	1	0	1	0	0	0	0	5933	1335	47	0	4863	0	FLNA	23	153589691	Frame_Shift_Del	DEL	G	TCGA-CD-A4MG-01A-11D-A25D-08	293868	153589691	1680869	3004	86785											
FLNA	2316	broad.mit.edu	37	chrX	153592413	153592413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgttggggatgcTgacgcctccccaggacacca	15	12	0	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153592413T>C	uc004fkk.2	-	15	2506	c.2257A>G	c.(2257-2259)AGC>GGC	p.S753G	FLNA_uc010nuu.1_Missense_Mutation_p.S753G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	753	Filamin 5.				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)					TTGGGGATGCTGACGCCTCCC	0.577													C	153592413	T	C	153592413	3	2	158	1	0	0	0	0	1	0	0	0	5933	1580	55	3	5822	3	FLNA	23	153592413	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08	2722	153592413	1678147	3005	86786											
FLNA	2316	broad.mit.edu	37	chrX	153596065	153596065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctcgcgcattggtaaCgggcttgctggcgtcccaag	14	13	1	0			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153596065C>T	uc004fkk.2	-	4	913	c.664G>A	c.(664-666)GTT>ATT	p.V222I	FLNA_uc010nuu.1_Missense_Mutation_p.V222I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	222	CH 2.|Actin-binding.				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)					GCATTGGTAACGGGCTTGCTG	0.677													T	153596065	C	T	153596065	3	4	158	1	0	0	0	0	1	0	0	0	5933	536	19	1	7459	1	FLNA	23	153596065	Missense_Mutation	SNP	C	TCGA-CD-A4MG-01A-11D-A25D-08	3652	153596065	1674495	3006	86787											
SRY	6736	broad.mit.edu	37	chrY	2655595	2655595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgcacagctggactgTaatcatcgctgttgaatacg	9	10	2	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrY:2655595T>C	uc004fqg.1	-	1	198	c.50A>G	c.(49-51)TAC>TGC	p.Y17C		NM_003140	NP_003131	Q05066	SRY_HUMAN	sex determining region Y	17					cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0						AGCTGGACTGTAATCATCGCT	0.433									Swyer_syndrome				C	2655595	T	C	2655595	3	2	158	1	0	0	0	0	1	0	0	0	15173	1638	57	3	568	3	SRY	24	2655595	Missense_Mutation	SNP	T	TCGA-CD-A4MG-01A-11D-A25D-08		2655595	56717971	3007	86788											
USP9Y	8287	broad.mit.edu	37	chrY	14837085	14837085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatgccaacgtttttttcGagatggactaacaatatctt	7	8	1	1			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrY:14837085G>A	uc004fst.1	+	6	1310	c.365G>A	c.(364-366)CGA>CAA	p.R122Q	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	122					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				0						CGTTTTTTTCGAGATGGACTA	0.338													A	14837085	G	A	14837085	3	1	158	1	0	0	0	0	1	0	0	0	17088	1058	37	1	379	1	USP9Y	24	14837085	Missense_Mutation	SNP	G	TCGA-CD-A4MG-01A-11D-A25D-08	12181490	14837085	44536481	3008	86789											
PGM1	5236	broad.mit.edu	37	chr1	64089203	64089203	+	Frame_Shift_Del	DEL	T	T	-													ggtcctctccctctgttgacTtttgctacagctccctacca							TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:64089202_64089202CT>C	uc010ooz.2	+	0	316	c.71_71CT>C	c.(70-72)actfs	p.T24fs	PGM1_uc001dbh.3_Intron|PGM1_uc010ooy.2_Intron	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	6					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						CCTCTGTTGACTTTTGCTACA	0.433													-	64089203	T	-	64089203	7	5	159	1	0	1	0	1	0	0	0	0	11797	1596	56	0	324	0	PGM1	1	64089203	Frame_Shift_Del	DEL	T	TCGA-CD-A4MH-01A-11D-A25D-08		64089203	185161418	1	86790											
SPAG17	200162	broad.mit.edu	37	chr1	118584644	118584644	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgctcctcttctgctaatcGatgttgctcttctttccatg	7	13	4	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:118584644G>A	uc001ehk.2	-	21	2904	c.2836C>T	c.(2836-2838)CGA>TGA	p.R946*		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	946	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TCTGCTAATCGATGTTGCTCT	0.368													A	118584644	G	A	118584644	4	1	159	1	0	0	0	0	0	1	0	0	14979	1066	37	1	3947	1	SPAG17	1	118584644	Nonsense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	54495441	118584644	130665977	2	86791											
PLEKHA6	22874	broad.mit.edu	37	chr1	204197879	204197879	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatttggcaatgagtgtcttGatcctctccaccttcttctg	8	11	4	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:204197879G>A	uc001hau.2	-	20	3179	c.2862C>T	c.(2860-2862)ATC>ATT	p.I954I		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	954										ovary(3)|pancreas(1)	4	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)			TGAGTGTCTTGATCCTCTCCA	0.552													A	204197879	G	A	204197879	2	1	159	1	0	0	0	0	0	0	0	1	12060	1280	45	4		4	PLEKHA6	1	204197879	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	85613235	204197879	45052742	3	86792											
TMCC2	9911	broad.mit.edu	37	chr1	205210967	205210967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcgggagcagcagccGgcgcaccaagagtagctccc	14	15	0	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:205210967G>A	uc001hbz.1	+	3	986	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	TMCC2_uc010prf.1_Missense_Mutation_p.R103Q	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	181						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			agcagcagccggcgcaccaag	0.517													A	205210967	G	A	205210967	3	1	159	1	0	0	0	0	1	0	0	0	15990	1116	39	1	548	1	TMCC2	1	205210967	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	1013088	205210967	44039654	4	86793											
KIAA1383	54627	broad.mit.edu	37	chr1	232941162	232941162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcagcttctcgtttgcGgagcccgcggcggcgtttcc	14	14	2	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr1:232941162G>A	uc001hvh.2	+	1	525	c.393G>A	c.(391-393)GCG>GCA	p.A131A		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	Error:Variant_position_missing_in_Q9P2G4_after_alignment										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TCTCGTTTGCGGAGCCCGCGG	0.647													A	232941162	G	A	232941162	2	1	159	1	0	0	0	0	0	0	0	1	8228	1103	39	1		1	KIAA1383	1	232941162	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	27730195	232941162	16309459	5	86794											
NRXN1	9378	broad.mit.edu	37	chr2	50779727	50779727	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaaaatgataagattacctGaccgtccgtctctctggaag	9	9	2	3			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:50779727G>T	uc010fbq.2	-	9	3354	c.1877C>A	c.(1876-1878)TCA>TAA	p.S626*	NRXN1_uc002rxb.3_Nonsense_Mutation_p.S258*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.S586*|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGATTACCTGACCGTCCGTC	0.428													T	50779727	G	T	50779727	4	4	159	1	0	0	0	0	0	1	0	0	10665	1294	45	5	3089	5	NRXN1	2	50779727	Nonsense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08		50779727	192419646	6	86795											
ANKRD23	200539	broad.mit.edu	37	chr2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-													ggtgcgcactgccacgtgcaGgggggtgctcccgatctgag							TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:97505817delG	uc002sxa.2	-	7	669	c.640delC	c.(640-642)CTGfs	p.L214fs	ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Frame_Shift_Del_p.L172fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	diabetes related ankyrin repeat protein	214	ANK 3.					nucleus				ovary(1)	1						GCCACGTGCAGGGGGGTGCTC	0.637													-	97505817	G	-	97505817	7	5	159	1	0	1	0	1	0	0	0	0	652	991	35	0	289	0	ANKRD23	2	97505817	Frame_Shift_Del	DEL	G	TCGA-CD-A4MH-01A-11D-A25D-08	46726090	97505817	145693556	7	86796											
ST6GAL2	84620	broad.mit.edu	37	chr2	107446537	107446537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaccaatgaaaccagaagAtggtgggtttggttgaatct	11	7	1	4			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:107446537A>G	uc002tdq.2	-	5	1422	c.1303T>C	c.(1303-1305)TCT>CCT	p.S435P	ST6GAL2_uc002tdr.2_Missense_Mutation_p.S435P|ST6GAL2_uc002tds.3_Missense_Mutation_p.S435P	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	435	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						AAACCAGAAGATGGTGGGTTT	0.358													G	107446537	A	G	107446537	3	3	159	1	0	0	0	0	1	0	0	0	15221	333	12	3	381	3	ST6GAL2	2	107446537	Missense_Mutation	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08	9940720	107446537	135752836	8	86797											
KIF5C	3800	broad.mit.edu	37	chr2	149847638	149847638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaaacagctcgagagcGcccagatggactccaacagg	12	13	0	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:149847638G>A	uc010zbu.1	+	16	2199	c.1831G>A	c.(1831-1833)GCC>ACC	p.A611T	KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.A163T	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	611					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTCGAGAGCGCCCAGATGGA	0.582													A	149847638	G	A	149847638	3	1	159	1	0	0	0	0	1	0	0	0	8307	1087	38	1	1815	1	KIF5C	2	149847638	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	42401101	149847638	93351735	9	86798											
RAPGEF4	11069	broad.mit.edu	37	chr2	173855568	173855568	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaatacagtcagacttaaaGaacatgaccaagatgtcttg	8	8	2	4			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:173855568G>A	uc002uhv.3	+	15	1592	c.1405G>A	c.(1405-1407)GAA>AAA	p.E469K	RAPGEF4_uc002uhw.3_Missense_Mutation_p.E325K|RAPGEF4_uc010zec.1_Missense_Mutation_p.E316K|RAPGEF4_uc010zed.1_Missense_Mutation_p.E298K|RAPGEF4_uc010zee.1_Missense_Mutation_p.E316K|RAPGEF4_uc010fqo.2_Missense_Mutation_p.E298K|RAPGEF4_uc010zef.1_Missense_Mutation_p.E249K|RAPGEF4_uc010zeg.1_Missense_Mutation_p.E296K|RAPGEF4_uc010zeh.1_Missense_Mutation_p.E249K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	469	cAMP 2.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGACTTAAAGAACATGACCA	0.433													A	173855568	G	A	173855568	3	1	159	1	0	0	0	0	1	0	0	0	13046	943	33	4	1479	4	RAPGEF4	2	173855568	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	24007930	173855568	69343805	10	86799											
ABCA12	26154	broad.mit.edu	37	chr2	215891623	215891623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggactatttgctgatatAtttaagagggcatcttcaaa	8	5	2	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr2:215891623A>G	uc002vew.2	-	10	1321	c.1101T>C	c.(1099-1101)AAT>AAC	p.N367N	ABCA12_uc002vev.2_Silent_p.N49N|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	367					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TTGCTGATATATTTAAGAGGG	0.358													G	215891623	A	G	215891623	2	3	159	1	0	0	0	0	0	0	0	1	30	446	16	3		3	ABCA12	2	215891623	Silent	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08	42036055	215891623	27307750	11	86800											
CACNA1D	776	broad.mit.edu	37	chr3	53752408	53752408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaccgaggctgctgtggaAgtctctggtgagtgtgggga	18	6	1	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:53752408A>T	uc003dgv.3	+	10	1634	c.1471A>T	c.(1471-1473)AGT>TGT	p.S491C	CACNA1D_uc003dgu.3_Missense_Mutation_p.S491C|CACNA1D_uc003dgy.3_Missense_Mutation_p.S491C|CACNA1D_uc003dgw.3_Missense_Mutation_p.S138C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	491	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	CTGCTGTGGAAGTCTCTGGTG	0.612													T	53752408	A	T	53752408	3	4	159	1	0	0	0	0	1	0	0	0	2541	72	3	5	1617	5	CACNA1D	3	53752408	Missense_Mutation	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08		53752408	144270022	12	86801											
KIAA1407	57577	broad.mit.edu	37	chr3	113699559	113699559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctagaccttttttccttaGcaagaccctttcataatgtt	4	11	2	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:113699559G>A	uc003eax.2	-	14	2392	c.2245C>T	c.(2245-2247)CTA>TTA	p.L749L	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	749										ovary(2)	2						TTTTTCCTTAGCAAGACCCTT	0.403													A	113699559	G	A	113699559	2	1	159	1	0	0	0	0	0	0	0	1	8229	962	34	2		2	KIAA1407	3	113699559	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	59947151	113699559	84322871	13	86802											
MYLK	4638	broad.mit.edu	37	chr3	123471320	123471320	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaatccagcaggaagcgGcccccgctggtgatgggttg	15	13	0	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:123471320G>T	uc003ego.2	-	5	513	c.231C>A	c.(229-231)GGC>GGA	p.G77G	MYLK_uc011bjw.1_Silent_p.G77G|MYLK_uc003egp.2_Silent_p.G77G|MYLK_uc003egq.2_Silent_p.G77G|MYLK_uc003egr.2_Silent_p.G77G|MYLK_uc003egs.2_Intron|MYLK_uc010hrs.1_Silent_p.G77G|MYLK_uc003egu.1_Silent_p.G87G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	77	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			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGAAGCGGCCCCCGCTGG	0.532													T	123471320	G	T	123471320	2	4	159	1	0	0	0	0	0	0	0	1	10056	1190	42	5		5	MYLK	3	123471320	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	9771761	123471320	74551110	14	86803											
KALRN	8997	broad.mit.edu	37	chr3	124210189	124210189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcagagctgggtgtgaCcgagcacgtggagggcgatc	17	10	1	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:124210189C>T	uc003ehg.2	+	31	4728	c.4601C>T	c.(4600-4602)ACC>ATC	p.T1534I	KALRN_uc010hrv.1_Missense_Mutation_p.T1525I|KALRN_uc003ehf.1_Missense_Mutation_p.T1534I|KALRN_uc011bjy.1_Missense_Mutation_p.T1525I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1534	PH 1.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTGGGTGTGACCGAGCACGTG	0.577													T	124210189	C	T	124210189	3	4	159	1	0	0	0	0	1	0	0	0	7975	507	18	4	4723	4	KALRN	3	124210189	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	738869	124210189	73812241	15	86804											
COPG	22820	broad.mit.edu	37	chr3	128973560	128973560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaactaccggggcccggccGtgcgagccctctgccagatc	12	17	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:128973560G>A	uc003els.2	+	6	473	c.373G>A	c.(373-375)GTG>ATG	p.V125M	COPG_uc010htb.2_Missense_Mutation_p.V31M	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	125					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						GGGCCCGGCCGTGCGAGCCCT	0.557													A	128973560	G	A	128973560	3	1	159	1	0	0	0	0	1	0	0	0	3731	1145	40	1	395	1	COPG	3	128973560	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	4763371	128973560	69048870	16	86805											
NCEH1	57552	broad.mit.edu	37	chr3	172365747	172365747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtggctcttcgggcttcGgagggccttcaaacactctg	12	12	4	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr3:172365747G>A	uc011bpx.1	-	2	530	c.392C>T	c.(391-393)CCG>CTG	p.P131L	NCEH1_uc003fig.2_Missense_Mutation_p.P131L|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	99	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						TTCGGGCTTCGGAGGGCCTTC	0.527													A	172365747	G	A	172365747	3	1	159	1	0	0	0	0	1	0	0	0	10215	1116	39	1	970	1	NCEH1	3	172365747	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	43392187	172365747	25656683	17	86806											
LETM1	3954	broad.mit.edu	37	chr4	1843232	1843232	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggacttcttcaccaccacctCtgcgggggggctgtacaccg	12	15	3	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:1843232C>G	uc003gdv.2	-	3	733	c.436G>C	c.(436-438)GAG>CAG	p.E146Q	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Missense_Mutation_p.E146Q	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	146	Mitochondrial intermembrane (Potential).				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCACCTCTGCGGGGGGG	0.602													G	1843232	C	G	1843232	3	3	159	1	0	0	0	0	1	0	0	0	8734	922	32	5	1831	5	LETM1	4	1843232	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		1843232	189311044	18	86807											
FAM193A	8603	broad.mit.edu	37	chr4	2701681	2701681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactctggaaacatccacaAtggctcactagagcaaactg	7	11	2	1	rs146890120		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:2701681A>G	uc010icl.2	+	17	3260	c.2909A>G	c.(2908-2910)AAT>AGT	p.N970S	FAM193A_uc010ick.2_Missense_Mutation_p.N1170S|FAM193A_uc003gfd.2_Missense_Mutation_p.N970S|FAM193A_uc011bvm.1_Missense_Mutation_p.N992S|FAM193A_uc011bvn.1_Missense_Mutation_p.N970S|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.N824S	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	970										ovary(3)	3						AACATCCACAATGGCTCACTA	0.512													G	2701681	A	G	2701681	3	3	159	1	0	0	0	0	1	0	0	0	5524	101	4	3	2967	3	FAM193A	4	2701681	Missense_Mutation	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08	858449	2701681	188452595	19	86808											
NSUN7	79730	broad.mit.edu	37	chr4	40753002	40753002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagctggctttcagtgccCtgaaatgtgagttgtgccag	13	8	1	3			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:40753002C>T	uc003gvj.3	+	2	787	c.292C>T	c.(292-294)CTG>TTG	p.L98L	NSUN7_uc003gvh.2_Silent_p.L98L|NSUN7_uc003gvi.3_Silent_p.L98L	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TTTCAGTGCCCTGAAATGTGA	0.473													T	40753002	C	T	40753002	2	4	159	1	0	0	0	0	0	0	0	1	10683	680	24	4		4	NSUN7	4	40753002	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	38051321	40753002	150401274	20	86809											
DCHS2	54798	broad.mit.edu	37	chr4	155163809	155163809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttctgtaatttccaCtgcttcagaggggagaaaag	9	9	2	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr4:155163809C>A	uc003inw.2	-	22	5692	c.5692G>T	c.(5692-5694)GTG>TTG	p.V1898L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1898	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAATTTCCACTGCTTCAGAG	0.323													A	155163809	C	A	155163809	3	1	159	1	0	0	0	0	1	0	0	0	4288	565	20	5	3074	5	DCHS2	4	155163809	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	114410807	155163809	35990467	21	86810											
TRIO	7204	broad.mit.edu	37	chr5	14406052	14406052	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagggagccctgaaggagccCattcacatccctaagaccgc	10	14	1	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:14406052C>G	uc003jff.2	+	32	4818	c.4812C>G	c.(4810-4812)CCC>CCG	p.P1604P	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.P1253P	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1604					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGAAGGAGCCCATTCACATCC	0.582													G	14406052	C	G	14406052	2	3	159	1	0	0	0	0	0	0	0	1	16549	581	21	5		5	TRIO	5	14406052	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		14406052	166509208	22	86811											
CDH18	1016	broad.mit.edu	37	chr5	19747086	19747086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcacagtaacaatgtatGgtccatctgtgaattttgga	10	7	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:19747086G>T	uc003jgc.2	-	3	865	c.488C>A	c.(487-489)CCA>CAA	p.P163Q	CDH18_uc003jgd.2_Missense_Mutation_p.P163Q|CDH18_uc011cnm.1_Missense_Mutation_p.P163Q	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	163	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACAATGTATGGTCCATCTGT	0.348													T	19747086	G	T	19747086	3	4	159	1	0	0	0	0	1	0	0	0	3103	1348	47	5	1924	5	CDH18	5	19747086	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	5341034	19747086	161168174	23	86812											
ZFR	51663	broad.mit.edu	37	chr5	32397359	32397359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttcgcccttttaagTgcatctccttagcattggga	9	10	2	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:32397359T>C	uc003jhr.1	-	10	1879	c.1799A>G	c.(1798-1800)CAC>CGC	p.H600R	MIR579_hsa-mir-579|MI0003586_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	600					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		CCCTTTTAAGTGCATCTCCTT	0.348													C	32397359	T	C	32397359	3	2	159	1	0	0	0	0	1	0	0	0	17656	1696	59	3	1469	3	ZFR	5	32397359	Missense_Mutation	SNP	T	TCGA-CD-A4MH-01A-11D-A25D-08	12650273	32397359	148517901	24	86813											
GHR	2690	broad.mit.edu	37	chr5	42700016	42700016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccaagtgagatgggaagCaccacgcaatgcagatattc	10	9	0	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:42700016C>A	uc003jmt.2	+	6	573	c.530C>A	c.(529-531)GCA>GAA	p.A177E	GHR_uc011cpq.1_5'UTR	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	177	Extracellular (Potential).|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			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGATGGGAAGCACCACGCAAT	0.413													A	42700016	C	A	42700016	3	1	159	1	0	0	0	0	1	0	0	0	6371	710	25	5	548	5	GHR	5	42700016	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	10302657	42700016	138215244	25	86814											
PCDHB7	56129	broad.mit.edu	37	chr5	140554232	140554232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctggctgtcgtaccagCtgctcaaggccacggagccc	12	16	1	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:140554232C>T	uc003lit.2	+	1	1990	c.1816C>T	c.(1816-1818)CTG>TTG	p.L606L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	606	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGTACCAGCTGCTCAAGGC	0.711													T	140554232	C	T	140554232	2	4	159	1	0	0	0	0	0	0	0	1	11547	796	28	2		2	PCDHB7	5	140554232	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	97854216	140554232	40361028	26	86815											
PCDHB12	56124	broad.mit.edu	37	chr5	140588662	140588662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgagtgagctgtcttcGcggggggctcgggtggtttc	20	7	1	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:140588662G>A	uc003liz.2	+	1	372	c.183G>A	c.(181-183)TCG>TCA	p.S61S	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	61	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGTCTTCGCGGGGGGCTC	0.512													A	140588662	G	A	140588662	2	1	159	1	0	0	0	0	0	0	0	1	11537	1074	38	1		1	PCDHB12	5	140588662	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	34430	140588662	40326598	27	86816											
IL12B	3593	broad.mit.edu	37	chr5	158750330	158750330	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggataccaatccaattctacGacataaactggaatgcacat	6	10	1	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:158750330G>C	uc003lxr.1	-	3	138	c.96C>G	c.(94-96)GTC>GTG	p.V32V		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	32	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAATTCTACGACATAAACTG	0.323													C	158750330	G	C	158750330	2	2	159	1	0	0	0	0	0	0	0	1	7625	1045	37	5		5	IL12B	5	158750330	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	18161668	158750330	22164930	28	86817											
SLC34A1	6569	broad.mit.edu	37	chr5	176815004	176815004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcccagggccttcgcGggggccacggtgcatgactg	15	15	0	1	rs150592440	byFrequency	TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr5:176815004G>A	uc003mgk.3	+	7	755	c.654G>A	c.(652-654)GCG>GCA	p.A218A		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	218	Extracellular (Potential).				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			ovary(1)	1	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)			GGGCCTTCGCGGGGGCCACGG	0.657													A	176815004	G	A	176815004	2	1	159	1	0	0	0	0	0	0	0	1	14567	1103	39	1		1	SLC34A1	5	176815004	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	18064674	176815004	4100256	29	86818											
TRIM38	10475	broad.mit.edu	37	chr6	25969609	25969609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagacagatgtacggaGcagaagctgtccacagcaat	11	9	0	4			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:25969609G>A	uc003nfm.2	+	4	903	c.468G>A	c.(466-468)GAG>GAA	p.E156E	TRIM38_uc003nfn.2_Silent_p.E156E	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	156					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						GATGTACGGAGCAGAAGCTGT	0.393													A	25969609	G	A	25969609	2	1	159	1	0	0	0	0	0	0	0	1	16509	962	34	2		2	TRIM38	6	25969609	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08		25969609	145145458	30	86819											
ZNF311	282890	broad.mit.edu	37	chr6	28967286	28967286	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgataccatgttcccataAttttccaacatcacatcctt	3	12	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:28967286A>T	uc003nlu.2	-	5	801	c.288T>A	c.(286-288)AAT>AAA	p.N96K	ZNF311_uc011dlk.1_Missense_Mutation_p.N4K|ZNF311_uc003nlv.2_Missense_Mutation_p.N4K	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TGTTCCCATAATTTTCCAACA	0.358													T	28967286	A	T	28967286	3	4	159	1	0	0	0	0	1	0	0	0	17831	98	4	5	1724	5	ZNF311	6	28967286	Missense_Mutation	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08	2997677	28967286	142147781	31	86820											
TUBB	203068	broad.mit.edu	37	chr6	30691661	30691661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctttgcccctctcacCagccgtggaagccagcagta	10	16	1	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:30691661C>T	uc003nrl.2	+	4	949	c.822C>T	c.(820-822)ACC>ACT	p.T274T	TUBB_uc003nrk.1_Silent_p.T274T|TUBB_uc011dmq.1_Silent_p.T202T	NM_178014	NP_821133	P07437	TBB5_HUMAN	tubulin, beta	274					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			ovary(1)	1					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CCCCTCTCACCAGCCGTGGAA	0.587													T	30691661	C	T	30691661	2	4	159	1	0	0	0	0	0	0	0	1	16749	581	21	4		4	TUBB	6	30691661	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	1724375	30691661	140423406	32	86821											
MAP3K7	6885	broad.mit.edu	37	chr6	91257851	91257851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgctccatattagtgTcacttttgttactcgtattt	6	8	1	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:91257851T>G	uc003pnz.1	-	10	1157	c.995A>C	c.(994-996)GAC>GCC	p.D332A	MAP3K7_uc003poa.1_Missense_Mutation_p.D332A|MAP3K7_uc003pob.1_Missense_Mutation_p.D332A|MAP3K7_uc003poc.1_Missense_Mutation_p.D332A	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	332					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|protein binding	p.D332N(1)		ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		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)		CATATTAGTGTCACTTTTGTT	0.343													G	91257851	T	G	91257851	3	3	159	1	0	0	0	0	1	0	0	0	9255	1667	58	5	857	5	MAP3K7	6	91257851	Missense_Mutation	SNP	T	TCGA-CD-A4MH-01A-11D-A25D-08	60566190	91257851	79857216	33	86822											
LAMA2	3908	broad.mit.edu	37	chr6	129634005	129634005	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttttatctcctctataGgcttgtaactgcagcacagt	7	10	2	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:129634005G>A	uc003qbn.2	+	23	3280	c.3175_splice	c.e23-1	p.A1059_splice	LAMA2_uc003qbo.2_Splice_Site_p.A1059_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor						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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCCTCTATAGGCTTGTAACT	0.323													A	129634005	G	A	129634005	5	1	159	1	0	0	0	0	0	0	1	0	8606	1014	35	4	3264	4	LAMA2	6	129634005	Splice_Site	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	38376154	129634005	41481062	34	86823											
UTRN	7402	broad.mit.edu	37	chr6	144837465	144837465	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaattagaaaatgacaTagaaaatatgttaaaatttg	7	1	0	3			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:144837465T>A	uc003qkt.2	+	37	5437	c.5345T>A	c.(5344-5346)ATA>AAA	p.I1782K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1782					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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATGACATAGAAAATATG	0.348													A	144837465	T	A	144837465	3	1	159	1	0	0	0	0	1	0	0	0	17100	1406	49	5	5491	5	UTRN	6	144837465	Missense_Mutation	SNP	T	TCGA-CD-A4MH-01A-11D-A25D-08	15203460	144837465	26277602	35	86824											
TULP4	56995	broad.mit.edu	37	chr6	158735187	158735187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgaggaaggctggctgGccacgggcaacgggcgagga	18	9	0	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr6:158735187G>A	uc003qrf.2	+	1	1496	c.139G>A	c.(139-141)GCC>ACC	p.A47T	TULP4_uc011efo.1_Missense_Mutation_p.A47T|TULP4_uc003qrg.2_Missense_Mutation_p.A47T	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	47					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		AGGCTGGCTGGCCACGGGCAA	0.582													A	158735187	G	A	158735187	3	1	159	1	0	0	0	0	1	0	0	0	16773	1203	42	2	141	2	TULP4	6	158735187	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	13897722	158735187	12379880	36	86825											
SUN1	23353	broad.mit.edu	37	chr7	891106	891106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcggccctttggctggcCgtggttgctccaggtggcta	16	11	0	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:891106C>T	uc011jvp.1	+	7	823	c.744C>T	c.(742-744)GCC>GCT	p.A248A	GET4_uc003sjj.1_5'Flank|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Silent_p.A153A|SUN1_uc011jvr.1_Intron|SUN1_uc003sji.2_Silent_p.A86A|SUN1_uc003sjk.2_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	275	SYNE2-binding.|Nuclear.|EMD-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						TTTGGCTGGCCGTGGTTGCTC	0.557													T	891106	C	T	891106	2	4	159	1	0	0	0	0	0	0	0	1	15388	639	23	1		1	SUN1	7	891106	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		891106	158247557	37	86826											
CYP2W1	54905	broad.mit.edu	37	chr7	1028295	1028295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgtctgtgttggggagcGcctggccaggaccgagctct	16	13	2	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:1028295G>A	uc003sjq.1	+	9	1323	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	CYP2W1_uc003sjr.1_3'UTR	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	437					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				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTTGGGGAGCGCCTGGCCAGG	0.721													A	1028295	G	A	1028295	3	1	159	1	0	0	0	0	1	0	0	0	4176	1087	38	1	1344	1	CYP2W1	7	1028295	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	137189	1028295	158110368	38	86827											
FBXL18	80028	broad.mit.edu	37	chr7	5521541	5521541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagatgacgacgtttaaCgcgggccgctcggcctggaa	16	10	0	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:5521541C>T	uc003son.3	-	5	2116	c.2022G>A	c.(2020-2022)GCG>GCA	p.A674A		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	Error:Variant_position_missing_in_Q96ME1_after_alignment										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CGACGTTTAACGCGGGCCGCT	0.637													T	5521541	C	T	5521541	2	4	159	1	0	0	0	0	0	0	0	1	5714	523	19	1		1	FBXL18	7	5521541	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	4493246	5521541	153617122	39	86828											
AEBP1	165	broad.mit.edu	37	chr7	44153426	44153426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccctatgaccccccaaCagcgacgcctgcagcagcga	10	19	0	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:44153426C>A	uc003tkb.2	+	21	3348	c.3043C>A	c.(3043-3045)CAG>AAG	p.Q1015K	AEBP1_uc003tkc.3_Missense_Mutation_p.Q590K|AEBP1_uc003tkd.2_Missense_Mutation_p.Q265K	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1015	Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (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				0						GACCCCCCAACAGCGACGCCT	0.667													A	44153426	C	A	44153426	3	1	159	1	0	0	0	0	1	0	0	0	349	479	17	5	3125	5	AEBP1	7	44153426	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	38631885	44153426	114985237	40	86829											
PKD1L1	168507	broad.mit.edu	37	chr7	47944049	47944049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtcccacaggtaggcaacAtctgtgccgaagttgatcca	10	11	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:47944049A>T	uc003tny.1	-	12	1857	c.1857T>A	c.(1855-1857)GAT>GAA	p.D619E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	619	Extracellular (Potential).|PKD 2.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGTAGGCAACATCTGTGCCGA	0.587													T	47944049	A	T	47944049	3	4	159	1	0	0	0	0	1	0	0	0	11964	214	8	5	6876	5	PKD1L1	7	47944049	Missense_Mutation	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08	3790623	47944049	111194614	41	86830											
CACNA2D1	781	broad.mit.edu	37	chr7	81579730	81579730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataacaggcggtgtgtgctgCcagataccagccaaagtagt	12	9	0	1	rs138331326		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:81579730C>T	uc003uhr.1	-	39	3510	c.3254G>A	c.(3253-3255)GGC>GAC	p.G1085D	uc003uhq.1_5'Flank|CACNA2D1_uc011kgy.1_Missense_Mutation_p.G297D	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	1097	Cytoplasmic (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTGTGTGCTGCCAGATACCAG	0.448													T	81579730	C	T	81579730	3	4	159	1	0	0	0	0	1	0	0	0	2548	739	26	2	25	2	CACNA2D1	7	81579730	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	33635681	81579730	77558933	42	86831											
FBXO24	26261	broad.mit.edu	37	chr7	100198354	100198354	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcgaggagtacctcagccaGatccacagttgccaaacgtt	10	12	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:100198354G>T	uc003uvm.1	+	10	1868	c.1575G>T	c.(1573-1575)CAG>CAT	p.Q525H	FBXO24_uc003uvn.1_Missense_Mutation_p.Q163H|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.Q563H|FBXO24_uc011kka.1_Missense_Mutation_p.Q513H|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	525						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTCAGCCAGATCCACAGTT	0.652													T	100198354	G	T	100198354	3	4	159	1	0	0	0	0	1	0	0	0	5735	933	33	5	1770	5	FBXO24	7	100198354	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	18618624	100198354	58940309	43	86832											
SLC26A3	1811	broad.mit.edu	37	chr7	107408041	107408041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcatatacccgattacGtaatcctccatttgtattta	3	11	1	0	rs144817916		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:107408041G>A	uc003ver.2	-	20	2465	c.2254C>T	c.(2254-2256)CGT>TGT	p.R752C	SLC26A3_uc003ves.2_Missense_Mutation_p.R639C	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	752					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			ovary(3)|skin(1)	4						ACCCGATTACGTAATCCTCCA	0.343													A	107408041	G	A	107408041	3	1	159	1	0	0	0	0	1	0	0	0	14518	1145	40	1	48	1	SLC26A3	7	107408041	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	7209687	107408041	51730622	44	86833											
DLD	1738	broad.mit.edu	37	chr7	107558368	107558368	+	Splice_Site	DEL	G	G	-													ctttttttctgactgtcacaGggtattgagtacaaagttgg							TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr7:107558368delG	uc003vet.2	+	12	1347	c.1237_splice	c.e12-1	p.G413_splice	DLD_uc011kmg.1_Splice_Site_p.G365_splice|DLD_uc011kmh.1_Splice_Site_p.G390_splice|DLD_uc011kmi.1_Splice_Site_p.G314_splice	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor						branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GACTGTCACAGGGTATTGAGT	0.388													-	107558368	G	-	107558368	8	5	159	1	0	1	0	1	0	0	1	0	4551	1014	35	0	1282	0	DLD	7	107558368	Splice_Site	DEL	G	TCGA-CD-A4MH-01A-11D-A25D-08	150327	107558368	51580295	45	86834											
LZTS1	11178	broad.mit.edu	37	chr8	20110844	20110844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacggcttgtgggtcccaCgggtgtgaccagcgggtcca	15	11	0	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr8:20110844C>T	uc003wzr.2	-	2	709	c.598G>A	c.(598-600)GTG>ATG	p.V200M	LZTS1_uc010ltg.1_Missense_Mutation_p.V200M	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	200					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GTGGGTCCCACGGGTGTGACC	0.637													T	20110844	C	T	20110844	3	4	159	1	0	0	0	0	1	0	0	0	9138	536	19	1	1200	1	LZTS1	8	20110844	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		20110844	126253178	46	86835											
TSTA3	7264	broad.mit.edu	37	chr8	144696589	144696589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttggtggggatgacagCggtgaaggtgcagccgtact	18	7	0	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr8:144696589C>T	uc003yza.2	-	6	535	c.499G>A	c.(499-501)GCT>ACT	p.A167T	TSTA3_uc003yzb.2_Missense_Mutation_p.A167T	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	167					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GGGATGACAGCGGTGAAGGTG	0.662													T	144696589	C	T	144696589	3	4	159	1	0	0	0	0	1	0	0	0	16671	768	27	1	490	1	TSTA3	8	144696589	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	124585745	144696589	1667433	47	86836											
TTC39B	158219	broad.mit.edu	37	chr9	15185355	15185355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcctcacagcaaacttctCagtagggatagatttcccgg	8	12	2	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr9:15185355C>T	uc003zlr.1	-	16	1460	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	TTC39B_uc003zlq.1_Missense_Mutation_p.E416K|TTC39B_uc011lmp.1_Missense_Mutation_p.E348K|TTC39B_uc010mie.1_Missense_Mutation_p.E445K|TTC39B_uc011lmq.1_Missense_Mutation_p.E434K|TTC39B_uc011lmr.1_Missense_Mutation_p.E378K|TTC39B_uc003zlp.1_Missense_Mutation_p.E30K	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	447							binding			ovary(1)	1						GCAAACTTCTCAGTAGGGATA	0.507													T	15185355	C	T	15185355	3	4	159	1	0	0	0	0	1	0	0	0	16705	835	29	4	531	4	TTC39B	9	15185355	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		15185355	126028076	48	86837											
RAB14	51552	broad.mit.edu	37	chr9	123945660	123945660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctccaaatctgctttatttCctatgagaattattacctaa	3	10	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr9:123945660C>G	uc004blc.2	-	6	824	c.368G>C	c.(367-369)GGA>GCA	p.G123A		NM_016322	NP_057406	P61106	RAB14_HUMAN	GTPase Rab14	123					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity				0						TGCTTTATTTCCTATGAGAAT	0.328													G	123945660	C	G	123945660	3	3	159	1	0	0	0	0	1	0	0	0	12900	855	30	5	291	5	RAB14	9	123945660	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	108760305	123945660	17267771	49	86838											
FPGS	2356	broad.mit.edu	37	chr9	130566591	130566591	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcatgctcaataccctgCagaccaatgccggctacctg	9	15	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr9:130566591C>T	uc004bsg.1	+	2	216	c.166C>T	c.(166-168)CAG>TAG	p.Q56*	FPGS_uc004bsf.1_RNA|FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Nonsense_Mutation_p.Q56*|FPGS_uc004bsi.1_Nonsense_Mutation_p.Q6*	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	56					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	CAATACCCTGCAGACCAATGC	0.602													T	130566591	C	T	130566591	4	4	159	1	0	0	0	0	0	1	0	0	6036	711	25	2	172	2	FPGS	9	130566591	Nonsense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	6620931	130566591	10646840	50	86839											
FAM188A	80013	broad.mit.edu	37	chr10	15879259	15879259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatttatttccccacaTtgaatactggtccaagacag	5	11	0	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:15879259T>C	uc001iod.1	-	6	741	c.520A>G	c.(520-522)ATG>GTG	p.M174V	FAM188A_uc001ioe.1_Missense_Mutation_p.M1V|FAM188A_uc001iof.1_Missense_Mutation_p.M174V	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	174					apoptosis	nucleus	calcium ion binding			ovary(1)	1						TTTCCCCACATTGAATACTGG	0.328													C	15879259	T	C	15879259	3	2	159	1	0	0	0	0	1	0	0	0	5514	1493	52	3	857	3	FAM188A	10	15879259	Missense_Mutation	SNP	T	TCGA-CD-A4MH-01A-11D-A25D-08		15879259	119655488	51	86840											
VIM	7431	broad.mit.edu	37	chr10	17276730	17276730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccaaccggaacaatgaCgccctgcgccaggcaaagca	11	15	0	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:17276730C>T	uc001iou.2	+	6	1334	c.921C>T	c.(919-921)GAC>GAT	p.D307D	VIM_uc001iov.1_Silent_p.D307D|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.D307D|VIM_uc001ioy.1_Silent_p.D307D|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Silent_p.D307D	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	307	Rod.|Coil 2.				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			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGAACAATGACGCCCTGCGCC	0.507													T	17276730	C	T	17276730	2	4	159	1	0	0	0	0	0	0	0	1	17163	535	19	1		1	VIM	10	17276730	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	1397471	17276730	118258017	52	86841											
NSUN6	221078	broad.mit.edu	37	chr10	18840880	18840880	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaattcggtcaaaggattCtggtagaaatggaggttctc	12	5	3	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:18840880C>T	uc010qcp.1	-	9	1361	c.943G>A	c.(943-945)GAA>AAA	p.E315K		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	315							methyltransferase activity|RNA binding			ovary(2)	2						TCAAAGGATTCTGGTAGAAAT	0.398													T	18840880	C	T	18840880	3	4	159	1	0	0	0	0	1	0	0	0	10682	922	32	4	478	4	NSUN6	10	18840880	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	1564150	18840880	116693867	53	86842											
ZMYND17	118490	broad.mit.edu	37	chr10	75186022	75186022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacagcatgactaactaGcacagcatccaatgtagcat	8	11	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr10:75186022G>T	uc001jud.2	-	5	682	c.616C>A	c.(616-618)CTA>ATA	p.L206I	ZMYND17_uc001juc.2_Missense_Mutation_p.L206I|ZMYND17_uc009xrh.2_Missense_Mutation_p.L229I|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	206							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					TGACTAACTAGCACAGCATCC	0.547													T	75186022	G	T	75186022	3	4	159	1	0	0	0	0	1	0	0	0	17706	962	34	5	778	5	ZMYND17	10	75186022	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	56345142	75186022	60348725	54	86843											
MUC6	4588	broad.mit.edu	37	chr11	1016750	1016760	+	Frame_Shift_Del	DEL	CACCAAGGAGG	CACCAAGGAGG	-													actgtgtgagtacttggagtCaccaaggaggtggagaaagg							TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:1016749_1016759TCACCAAGGAGG>T	uc001lsw.2	-	30	6093_6103	c.6042_6052CCTCCTTGGTGA>A	c.(6040-6054)acctccttggtgactfs	p.T2014fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2014	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)		GTACTTGGAGTCACCAAGGAGGTGGAGAAAG	0.54													-	1016760	CACCAAGGAGG	-	1016750	7	5	159	1	0	1	0	1	0	0	0	0	9980	813	29	0	1280	0	MUC6	11	1016750	Frame_Shift_Del	DEL	CACCAAGGAGG	TCGA-CD-A4MH-01A-11D-A25D-08		1016750	133989766	55	86844											
OR51B5	282763	broad.mit.edu	37	chr11	5364062	5364062	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaatgagagccttggccctCtcctctctggaggcaatgct	11	12	2	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:5364062C>T	uc001map.1	-	1	693	c.693G>A	c.(691-693)GAG>GAA	p.E231E	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		CCTTGGCCCTCTCCTCTCTGG	0.433													T	5364062	C	T	5364062	2	4	159	1	0	0	0	0	0	0	0	1	11091	912	32	4		4	OR51B5	11	5364062	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	4347312	5364062	129642454	56	86845											
SCUBE2	57758	broad.mit.edu	37	chr11	9069049	9069049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggcctttctgagcgtgCggatggctttacggagccgc	16	11	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:9069049C>T	uc001mhh.1	-	15	1849	c.1769G>A	c.(1768-1770)CGC>CAC	p.R590H	SCUBE2_uc001mhi.1_Missense_Mutation_p.R619H|SCUBE2_uc001mhj.1_Missense_Mutation_p.R464H	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	590						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCTGAGCGTGCGGATGGCTTT	0.562													T	9069049	C	T	9069049	3	4	159	1	0	0	0	0	1	0	0	0	13945	768	27	1	1262	1	SCUBE2	11	9069049	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	3704987	9069049	125937467	57	86846			1	44		2	2	19	C		5.639972e-05
SCUBE2	57758	broad.mit.edu	37	chr11	9069067	9069067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggatggctttacggagcCgcttctcggttcgctttacg	13	11	1	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:9069067C>A	uc001mhh.1	-	15	1831	c.1751G>T	c.(1750-1752)CGG>CTG	p.R584L	SCUBE2_uc001mhi.1_Missense_Mutation_p.R613L|SCUBE2_uc001mhj.1_Missense_Mutation_p.R458L	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	584						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTTACGGAGCCGCTTCTCGGT	0.567													A	9069067	C	A	9069067	3	1	159	1	0	0	0	0	1	0	0	0	13945	652	23	5	1280	5	SCUBE2	11	9069067	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	18	9069067	125937449	58	86847			1	44		2	2	19	C		5.639972e-05
ZBTB3	79842	broad.mit.edu	37	chr11	62519821	62519821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgtgcaccgtggcatgtCgccgtagtgtgtaagagcat	15	8	0	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:62519821C>T	uc001nuz.2	-	2	1588	c.1466G>A	c.(1465-1467)CGA>CAA	p.R489Q		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	489	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						CGTGGCATGTCGCCGTAGTGT	0.572													T	62519821	C	T	62519821	3	4	159	1	0	0	0	0	1	0	0	0	17531	884	31	1	262	1	ZBTB3	11	62519821	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	53450754	62519821	72486695	59	86848											
LRP5	4041	broad.mit.edu	37	chr11	68153890	68153890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggacgacatccggcaCgccattgccatcgactacga	11	14	0	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr11:68153890C>T	uc001ont.2	+	6	1197	c.1122C>T	c.(1120-1122)CAC>CAT	p.H374H	LRP5_uc009ysg.2_Translation_Start_Site	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	374	Beta-propeller 2.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ACATCCGGCACGCCATTGCCA	0.662													T	68153890	C	T	68153890	2	4	159	1	0	0	0	0	0	0	0	1	8960	535	19	1		1	LRP5	11	68153890	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	5634069	68153890	66852626	60	86849											
PPP1R12A	4659	broad.mit.edu	37	chr12	80214567	80214567	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttacctgtttcagcttcTgattccgagtcatcttcctc	5	12	4	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr12:80214567T>A	uc001syz.2	-	8	1368	c.1101A>T	c.(1099-1101)TCA>TCT	p.S367S	PPP1R12A_uc010suc.1_Silent_p.S280S|PPP1R12A_uc001sza.2_Silent_p.S367S|PPP1R12A_uc010sud.1_Silent_p.S367S|PPP1R12A_uc001szb.2_Silent_p.S367S|PPP1R12A_uc001szc.2_Silent_p.S367S	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	367						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TTTCAGCTTCTGATTCCGAGT	0.343													A	80214567	T	A	80214567	2	1	159	1	0	0	0	0	0	0	0	1	12354	1567	55	5		5	PPP1R12A	12	80214567	Silent	SNP	T	TCGA-CD-A4MH-01A-11D-A25D-08		80214567	53637328	61	86850											
SLITRK5	26050	broad.mit.edu	37	chr13	88327806	88327806	+	Frame_Shift_Del	DEL	G	G	-													gtgacaatgcatgtccttgtGaggaaaaggacggcatttta							TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr13:88327805_88327805TG>T	uc001vln.3	+	1	381	c.162_162TG>T	c.(160-162)tgtfs	p.C54fs	SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_Frame_Shift_Del_p.C54fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	54						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)					CATGTCCTTGTGAGGAAAAGG	0.473													-	88327806	G	-	88327806	7	5	159	1	0	1	0	1	0	0	0	0	14746	1291	45	0	165	0	SLITRK5	13	88327806	Frame_Shift_Del	DEL	G	TCGA-CD-A4MH-01A-11D-A25D-08		88327806	26842072	62	86851											
CARS2	79587	broad.mit.edu	37	chr13	111315858	111315858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttgcctttggcgtgCaaatgccctgaaacaaaaac	7	11	2	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr13:111315858C>T	uc001vrd.2	-	9	967	c.927G>A	c.(925-927)TTG>TTA	p.L309L	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	309					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	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;0.163)		L-Cysteine(DB00151)	CTTTGGCGTGCAAATGCCCTG	0.438													T	111315858	C	T	111315858	2	4	159	1	0	0	0	0	0	0	0	1	2658	709	25	2		2	CARS2	13	111315858	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	22988052	111315858	3854020	63	86852											
PSME1	5720	broad.mit.edu	37	chr14	24607984	24607984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagaacttcgagaagCtcaagaagcccaggggagaa	12	9	1	5			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr14:24607984C>T	uc001wmg.2	+	11	803	c.709C>T	c.(709-711)CTC>TTC	p.L237F	PSME1_uc001wmh.2_3'UTR	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	237					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				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		CTTCGAGAAGCTCAAGAAGCC	0.507													T	24607984	C	T	24607984	3	4	159	1	0	0	0	0	1	0	0	0	12706	797	28	2	835	2	PSME1	14	24607984	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		24607984	82741556	64	86853											
ADCY4	196883	broad.mit.edu	37	chr14	24798738	24798738	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccctgtgatgtgcactcGcctggaaggagggaggcagt	16	10	0	1	rs140912494	byFrequency	TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr14:24798738G>A	uc001wov.2	-	9	1225	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*	ADCY4_uc001wow.2_Nonsense_Mutation_p.R407*|ADCY4_uc010toh.1_Nonsense_Mutation_p.R93*|ADCY4_uc001wox.2_Nonsense_Mutation_p.R407*|ADCY4_uc001woy.2_Nonsense_Mutation_p.R407*	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	407	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		ATGTGCACTCGCCTGGAAGGA	0.612													A	24798738	G	A	24798738	4	1	159	1	0	0	0	0	0	1	0	0	296	1101	38	1	2082	1	ADCY4	14	24798738	Nonsense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	190754	24798738	82550802	65	86854											
PNN	5411	broad.mit.edu	37	chr14	39650001	39650001	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacaaaaacaggaaatggAggttaagatggaggaggaaa	14	2	0	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr14:39650001A>C	uc001wuw.3	+	9	1185	c.1088A>C	c.(1087-1089)GAG>GCG	p.E363A		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	363	Potential.|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			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		caggaaatggaggttaagatg	0.104													C	39650001	A	C	39650001	3	2	159	1	0	0	0	0	1	0	0	0	12160	304	11	5	1122	5	PNN	14	39650001	Missense_Mutation	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08	14851263	39650001	67699539	66	86855											
BLM	641	broad.mit.edu	37	chr15	91312405	91312406	+	Frame_Shift_Del	DEL	TA	TA	-													tttctactctggagaatctcTatgagaggaagctcttggca							TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr15:91312404_91312405CTA>C	uc002bpr.3	+	10	2446_2447	c.2349_2350CTA>C	c.(2347-2352)ctctatfs	p.L783fs	BLM_uc010uqh.2_Frame_Shift_Del_p.L783fs|BLM_uc010uqi.2_Frame_Shift_Del_p.L408fs|BLM_uc010bnx.3_Frame_Shift_Del_p.L783fs	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	783	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|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	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding	p.Y784C(1)		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)			TGGAGAATCTCTATGAGAGGAA	0.371			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				-	91312406	TA	-	91312405	7	5	159	1	0	1	0	1	0	0	0	0	1445	1522	53	0	2388	0	BLM	15	91312405	Frame_Shift_Del	DEL	TA	TCGA-CD-A4MH-01A-11D-A25D-08		91312405	11218987	67	86856											
SRRM2	23524	broad.mit.edu	37	chr16	2817757	2817757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagctaggtccagaacaCcaccgtctgccccaagccaa	8	17	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:2817757C>T	uc002crk.2	+	11	7777	c.7228C>T	c.(7228-7230)CCA>TCA	p.P2410S	SRRM2_uc002crj.1_Missense_Mutation_p.P2314S|SRRM2_uc002crl.1_Missense_Mutation_p.P2410S|SRRM2_uc010bsu.1_Missense_Mutation_p.P2314S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2410	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTCCAGAACACCACCGTCTGC	0.607													T	2817757	C	T	2817757	3	4	159	1	0	0	0	0	1	0	0	0	15168	507	18	4	7266	4	SRRM2	16	2817757	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		2817757	87536996	68	86857											
MEFV	4210	broad.mit.edu	37	chr16	3299631	3299631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgggagtcctggcaccGggggcagccaggtgagcggc	18	11	1	1	rs104895116		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:3299631G>A	uc002cun.1	-	3	1100	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	354					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	TCCTGGCACCGGGGGCAGCCA	0.647													A	3299631	G	A	3299631	3	1	159	1	0	0	0	0	1	0	0	0	9459	1115	39	1	1317	1	MEFV	16	3299631	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	481874	3299631	87055122	69	86858											
ARMC5	79798	broad.mit.edu	37	chr16	31476013	31476013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctgacctatgtgaccGgcgcaccgggcccgcccagc	13	18	0	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:31476013G>A	uc002ecc.2	+	4	2198	c.1669G>A	c.(1669-1671)GGC>AGC	p.G557S	ARMC5_uc010vfn.1_Missense_Mutation_p.G652S|ARMC5_uc010vfo.1_Missense_Mutation_p.G589S|ARMC5_uc002eca.3_Missense_Mutation_p.G557S|ARMC5_uc010vfp.1_Missense_Mutation_p.G365S|ARMC5_uc002ecb.2_Missense_Mutation_p.G557S	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	557							binding			pancreas(1)	1						CTATGTGACCGGCGCACCGGG	0.701													A	31476013	G	A	31476013	3	1	159	1	0	0	0	0	1	0	0	0	954	1116	39	1	1683	1	ARMC5	16	31476013	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	28176382	31476013	58878740	70	86859											
ZC3H18	124245	broad.mit.edu	37	chr16	88688687	88688687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtggaaggacccttggCgccgatccaagtctcccaag	12	12	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr16:88688687C>T	uc002fky.2	+	9	1758	c.1558C>T	c.(1558-1560)CGC>TGC	p.R520C	ZC3H18_uc010voz.1_Missense_Mutation_p.R544C|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	520						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGACCCTTGGCGCCGATCCAA	0.602													T	88688687	C	T	88688687	3	4	159	1	0	0	0	0	1	0	0	0	17565	768	27	1	1588	1	ZC3H18	16	88688687	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	57212674	88688687	1666066	71	86860											
ATP2A3	489	broad.mit.edu	37	chr17	3854675	3854675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgatggcactctcggcGttgcgttcctgcagaataga	12	12	1	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:3854675G>A	uc002fxb.1	-	5	484	c.333C>T	c.(331-333)AAC>AAT	p.N111N	ATP2A3_uc002fwx.1_Silent_p.N111N|ATP2A3_uc002fwy.1_Silent_p.N111N|ATP2A3_uc002fwz.1_Silent_p.N111N|ATP2A3_uc002fxa.1_Silent_p.N111N|ATP2A3_uc002fxc.1_Silent_p.N111N|ATP2A3_uc002fxd.1_Silent_p.N111N	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	111	Cytoplasmic (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CACTCTCGGCGTTGCGTTCCT	0.652													A	3854675	G	A	3854675	2	1	159	1	0	0	0	0	0	0	0	1	1138	1136	40	1		1	ATP2A3	17	3854675	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08		3854675	77340535	72	86861											
TP53	7157	broad.mit.edu	37	chr17	7574012	7574012	+	Frame_Shift_Del	DEL	C	C	-													attcagctctcggaacatctCgaagcgctcacgcccacgga					rs17882252		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:7574012delC	uc002gim.2	-	10	1209	c.1015delG	c.(1015-1017)GAGfs	p.E339fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.E207fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.E339fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	339	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E339*(10)|p.0?(7)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CGGAACATCTCGAAGCGCTCA	0.468		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7574012	C	-	7574012	7	5	159	1	0	1	0	1	0	0	0	0	16378	893	31	0	174	0	TP53	17	7574012	Frame_Shift_Del	DEL	C	TCGA-CD-A4MH-01A-11D-A25D-08	3719337	7574012	73621198	73	86862											
PLD6	201164	broad.mit.edu	37	chr17	17106107	17106107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctttcgctggaggtgcCgcaagttctgtgccatgaaa	13	9	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:17106107C>T	uc002gqz.2	-	2	765	c.733G>A	c.(733-735)GGC>AGC	p.G245S	PLD6_uc010cpn.2_RNA	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN	phospholipase D6	245	Cytoplasmic (Potential).				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				0						CTGGAGGTGCCGCAAGTTCTG	0.542													T	17106107	C	T	17106107	3	4	159	1	0	0	0	0	1	0	0	0	12050	652	23	1	29	1	PLD6	17	17106107	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	9532095	17106107	64089103	74	86863											
TRIM16L	147166	broad.mit.edu	37	chr17	18631020	18631020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagatggagaagagtaaGcaggagctggagacgatggc	18	6	0	4			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:18631020G>A	uc002gug.1	+	7	837	c.150G>A	c.(148-150)AAG>AAA	p.K50K	TRIM16L_uc010vyf.1_Silent_p.K104K|TRIM16L_uc002guh.1_Silent_p.K50K|TRIM16L_uc010cqg.1_Silent_p.K152K|TRIM16L_uc002gui.1_Silent_p.K50K|TRIM16L_uc010vyg.1_Silent_p.K50K|TRIM16L_uc010vyh.1_Silent_p.K50K	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	50						cytoplasm					0						AGAAGAGTAAGCAGGAGCTGG	0.577													A	18631020	G	A	18631020	2	1	159	1	0	0	0	0	0	0	0	1	16489	962	34	2		2	TRIM16L	17	18631020	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	1524913	18631020	62564190	75	86864											
TNS4	84951	broad.mit.edu	37	chr17	38652509	38652509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggccccatgcagggcaCgggggccatcagggcctggg	20	12	1	0	rs147274319	byFrequency	TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:38652509C>T	uc010cxb.2	-	2	333	c.169G>A	c.(169-171)GTG>ATG	p.V57M		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	57					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ATGCAGGGCACGGGGGCCATC	0.697													T	38652509	C	T	38652509	3	4	159	1	0	0	0	0	1	0	0	0	16342	536	19	1	2026	1	TNS4	17	38652509	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	20021489	38652509	42542701	76	86865											
CACNA1G	8913	broad.mit.edu	37	chr17	48674155	48674155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctctcatcatccacacGgccgccacacccatgtcgct	6	21	2	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:48674155G>A	uc002irk.1	+	16	3501	c.3129G>A	c.(3127-3129)ACG>ACA	p.T1043T	CACNA1G_uc002iri.1_Silent_p.T1043T|CACNA1G_uc002irj.1_Silent_p.T1020T|CACNA1G_uc002irl.1_Silent_p.T1020T|CACNA1G_uc002irm.1_Silent_p.T1020T|CACNA1G_uc002irn.1_Silent_p.T1020T|CACNA1G_uc002iro.1_Silent_p.T1020T|CACNA1G_uc002irp.1_Silent_p.T1043T|CACNA1G_uc002irq.1_Silent_p.T1020T|CACNA1G_uc002irr.1_Silent_p.T1043T|CACNA1G_uc002irs.1_Silent_p.T1043T|CACNA1G_uc002irt.1_Silent_p.T1043T|CACNA1G_uc002irv.1_Silent_p.T1043T|CACNA1G_uc002irw.1_Silent_p.T1020T|CACNA1G_uc002iru.1_Silent_p.T1020T|CACNA1G_uc002irx.1_Silent_p.T956T|CACNA1G_uc002iry.1_Silent_p.T956T|CACNA1G_uc002irz.1_Silent_p.T956T|CACNA1G_uc002isa.1_Silent_p.T956T|CACNA1G_uc002isb.1_Silent_p.T956T|CACNA1G_uc002isc.1_Silent_p.T956T|CACNA1G_uc002isd.1_Silent_p.T956T|CACNA1G_uc002ise.1_Silent_p.T956T|CACNA1G_uc002isf.1_Silent_p.T956T|CACNA1G_uc002isg.1_Silent_p.T956T|CACNA1G_uc002ish.1_Silent_p.T956T|CACNA1G_uc002isi.1_Silent_p.T933T|CACNA1G_uc002isj.2_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1043	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	TCATCCACACGGCCGCCACAC	0.706													A	48674155	G	A	48674155	2	1	159	1	0	0	0	0	0	0	0	1	2544	1103	39	1		1	CACNA1G	17	48674155	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	10021646	48674155	32521055	77	86866											
RGS9	8787	broad.mit.edu	37	chr17	63156397	63156397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggtatggctacatttaCcccctgcaagaccccaagaa	8	13	1	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:63156397C>T	uc002jfe.2	+	4	362	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	RGS9_uc010dem.2_Silent_p.Y84Y|RGS9_uc002jfd.2_Silent_p.Y84Y|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	84	DEP.				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			ovary(2)|skin(2)	4						GCTACATTTACCCCCTGCAAG	0.502													T	63156397	C	T	63156397	2	4	159	1	0	0	0	0	0	0	0	1	13313	518	18	4		4	RGS9	17	63156397	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	14482242	63156397	18038813	78	86867											
ABCA5	23461	broad.mit.edu	37	chr17	67273963	67273963	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcttcctccagtggctGctgagtaaatacactataat	6	10	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:67273963G>A	uc002jif.2	-	18	3631	c.2413C>T	c.(2413-2415)CAG>TAG	p.Q805*	ABCA5_uc002jic.2_Nonsense_Mutation_p.Q28*|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.Q805*|ABCA5_uc002jih.2_Nonsense_Mutation_p.Q805*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.Q805*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	805					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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TCCAGTGGCTGCTGAGTAAAT	0.343													A	67273963	G	A	67273963	4	1	159	1	0	0	0	0	0	1	0	0	35	1328	46	2	2599	2	ABCA5	17	67273963	Nonsense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	4117566	67273963	13921247	79	86868											
CARD14	79092	broad.mit.edu	37	chr17	78163619	78163619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacaggagctggtggagcGcatccactcgctgcgggagc	16	13	0	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr17:78163619G>A	uc002jxw.1	+	6	1106	c.911G>A	c.(910-912)CGC>CAC	p.R304H	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R304H|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.R67H|CARD14_uc010dhu.1_Missense_Mutation_p.R102H	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	304	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTGGAGCGCATCCACTCG	0.687													A	78163619	G	A	78163619	3	1	159	1	0	0	0	0	1	0	0	0	2646	1087	38	1	929	1	CARD14	17	78163619	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	10889656	78163619	3031591	80	86869											
AQP4	361	broad.mit.edu	37	chr18	24436277	24436277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttttagaatcaggtcAtccgtctctacctgactcct	7	13	3	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr18:24436277A>G	uc002kwa.2	-	5	933	c.870T>C	c.(868-870)GAT>GAC	p.D290D	AQP4_uc002kvz.2_Silent_p.D268D	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	290	Cytoplasmic (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAATCAGGTCATCCGTCTCTA	0.473													G	24436277	A	G	24436277	2	3	159	1	0	0	0	0	0	0	0	1	828	214	8	3		3	AQP4	18	24436277	Silent	SNP	A	TCGA-CD-A4MH-01A-11D-A25D-08		24436277	53640971	81	86870											
EVI5L	115704	broad.mit.edu	37	chr19	7916351	7916351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctcaacacccacttccGttcccaaagcttccacacat	3	18	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:7916351G>A	uc002min.2	+	7	939	c.785G>A	c.(784-786)CGT>CAT	p.R262H	EVI5L_uc010xjz.1_Missense_Mutation_p.R262H|EVI5L_uc002mio.1_5'UTR	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	262	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						ACCCACTTCCGTTCCCAAAGC	0.637													A	7916351	G	A	7916351	3	1	159	1	0	0	0	0	1	0	0	0	5290	1145	40	1	807	1	EVI5L	19	7916351	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08		7916351	51212632	82	86871											
ELL	8178	broad.mit.edu	37	chr19	18576690	18576690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaaggagaacgtccgCgcctctgcggggcagtcagg	17	10	2	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:18576690C>T	uc002njh.2	-	3	294	c.222G>A	c.(220-222)GCG>GCA	p.A74A	ELL_uc010ebq.2_Silent_p.A17A|ELL_uc002njg.2_5'UTR	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	74					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGAACGTCCGCGCCTCTGCGG	0.672			T	MLL	AL								T	18576690	C	T	18576690	2	4	159	1	0	0	0	0	0	0	0	1	5062	755	27	1		1	ELL	19	18576690	Silent	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	10660339	18576690	40552293	83	86872											
UPF1	5976	broad.mit.edu	37	chr19	18963058	18963058	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accagaacatattcgggcccCtggtcaagctggaggccgac	12	13	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:18963058C>G	uc002nkg.2	+	6	1200	c.925C>G	c.(925-927)CTG>GTG	p.L309V	UPF1_uc002nkf.2_Missense_Mutation_p.L309V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	309	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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATTCGGGCCCCTGGTCAAGCT	0.632													G	18963058	C	G	18963058	3	3	159	1	0	0	0	0	1	0	0	0	17000	680	24	5	947	5	UPF1	19	18963058	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	386368	18963058	40165925	84	86873											
ZNF780B	163131	broad.mit.edu	37	chr19	40540586	40540586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctttccgcattctttaCattcaaagggtttctcacca	6	12	3	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:40540586C>T	uc002omu.2	-	5	2245	c.2180G>A	c.(2179-2181)TGT>TAT	p.C727Y	ZNF780B_uc002omv.2_Missense_Mutation_p.C579Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	727	C2H2-type 21.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCATTCTTTACATTCAAAGGG	0.413													T	40540586	C	T	40540586	3	4	159	1	0	0	0	0	1	0	0	0	18150	478	17	4	325	4	ZNF780B	19	40540586	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	21577528	40540586	18588397	85	86874											
KPTN	11133	broad.mit.edu	37	chr19	47984033	47984033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacctactggtcaggttcgTcagctctgggaagaggtttt	12	9	3	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:47984033T>C	uc002pgy.2	-	6	687	c.583A>G	c.(583-585)ACG>GCG	p.T195A	KPTN_uc010xys.1_RNA	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	195					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			ovary(1)	1		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)		GTCAGGTTCGTCAGCTCTGGG	0.587													C	47984033	T	C	47984033	3	2	159	1	0	0	0	0	1	0	0	0	8437	1667	58	3	755	3	KPTN	19	47984033	Missense_Mutation	SNP	T	TCGA-CD-A4MH-01A-11D-A25D-08	7443447	47984033	11144950	86	86875											
HRC	3270	broad.mit.edu	37	chr19	49657413	49657413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggggaccctggtgccaaCgttcagtggacacatcctca	12	12	2	0	rs139367000		TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:49657413C>T	uc002pmv.2	-	1	1269	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	361	1-4.|4 X tandem repeats, acidic.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		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)		CTGGTGCCAACGTTCAGTGGA	0.547													T	49657413	C	T	49657413	3	4	159	1	0	0	0	0	1	0	0	0	7352	536	19	1	1041	1	HRC	19	49657413	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	1673380	49657413	9471570	87	86876											
ZNF582	147948	broad.mit.edu	37	chr19	56895714	56895714	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaccggtatgaattctctGatgtcgtataagagttgagc	10	8	2	4			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr19:56895714G>A	uc002qmz.1	-	5	1231	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	ZNF582_uc002qmy.2_Nonsense_Mutation_p.Q389*	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	358	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q358H(1)		ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGAATTCTCTGATGTCGTATA	0.418													A	56895714	G	A	56895714	4	1	159	1	0	0	0	0	0	1	0	0	18011	1299	45	4	485	4	ZNF582	19	56895714	Nonsense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	7238301	56895714	2233269	88	86877											
PROKR2	128674	broad.mit.edu	37	chr20	5294595	5294595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaggcattggtggagaCgtagagggagacggtgcgca	18	7	0	3			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr20:5294595C>T	uc010zqw.1	-	1	421	c.421G>A	c.(421-423)GTC>ATC	p.V141I	PROKR2_uc010zqx.1_Missense_Mutation_p.V141I|PROKR2_uc010zqy.1_Missense_Mutation_p.V141I|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	141	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTGGTGGAGACGTAGAGGGAG	0.607										HNSCC(71;0.22)			T	5294595	C	T	5294595	3	4	159	1	0	0	0	0	1	0	0	0	12553	536	19	1	740	1	PROKR2	20	5294595	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08		5294595	57730925	89	86878											
EP300	2033	broad.mit.edu	37	chr22	41573763	41573763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaaggccagccatgatGtcagtggcccagcatggtca	12	12	2	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr22:41573763G>A	uc003azl.3	+	31	6443	c.6048G>A	c.(6046-6048)ATG>ATA	p.M2016I		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2016	Interaction with HTLV-1 Tax.				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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAGCCATGATGTCAGTGGCCC	0.577			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41573763	G	A	41573763	3	1	159	1	0	0	0	0	1	0	0	0	5148	1377	48	4	6170	4	EP300	22	41573763	Missense_Mutation	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08		41573763	9730803	90	86879											
CERK	64781	broad.mit.edu	37	chr22	47089393	47089394	+	Frame_Shift_Ins	INS	-	-	CAAAG													tgcttgctttgcctgcaaacINSaaagcatctgaaagacaaga							TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chr22:47089392_47089393A>ACAAAG	uc003bia.3	-	9	1164_1165	c.1057_1058T>CTTTGT	c.(1057-1059)gttfs	p.V353fs	CERK_uc010hae.3_Frame_Shift_Ins_p.V155fs	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	353					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	p.F352V(1)		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)		TTGCCTGCAAACAAAGCATCTG	0.436													CAAAG	47089394	-	CAAAG	47089393	7	5	159	1	0	1	1	0	0	0	0	0	3267	478	17	0	572	0	CERK	22	47089393	Frame_Shift_Ins	INS	-	TCGA-CD-A4MH-01A-11D-A25D-08	5515630	47089393	4215173	91	86880											
MSL3	10943	broad.mit.edu	37	chrX	11778528	11778528	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcaattagctgggaTagatgggcagcagaagatca	12	5	2	3			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:11778528T>C	uc004cuw.2	+	3	297	c.192T>C	c.(190-192)GAT>GAC	p.D64D	MSL3_uc004cuv.1_Silent_p.D64D|MSL3_uc004cux.2_Silent_p.D5D|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Silent_p.D52D|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	64	Chromo.				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			ovary(1)	1						TTAGCTGGGATAGATGGGCAG	0.378													C	11778528	T	C	11778528	2	2	159	1	0	0	0	0	0	0	0	1	9879	1403	49	3		3	MSL3	23	11778528	Silent	SNP	T	TCGA-CD-A4MH-01A-11D-A25D-08		11778528	143492032	92	86881											
FAM47A	158724	broad.mit.edu	37	chrX	34149084	34149084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatcccatacgtccttcaGcgtcctcccagaatccagca	6	17	1	1			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:34149084G>A	uc004ddg.2	-	1	1345	c.1312C>T	c.(1312-1314)CTG>TTG	p.L438L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	438										ovary(4)|central_nervous_system(1)	5						ACGTCCTTCAGCGTCCTCCCA	0.552													A	34149084	G	A	34149084	2	1	159	1	0	0	0	0	0	0	0	1	5569	962	34	2		2	FAM47A	23	34149084	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	22370556	34149084	121121476	93	86882											
FOXR2	139628	broad.mit.edu	37	chrX	55650539	55650539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagtggtagagtctctgcCatcttcctccagtgagcagt	10	11	2	2			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:55650539C>A	uc004duo.2	+	1	707	c.395C>A	c.(394-396)CCA>CAA	p.P132Q		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	132					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			lung(2)|central_nervous_system(1)	3						GAGTCTCTGCCATCTTCCTCC	0.502													A	55650539	C	A	55650539	3	1	159	1	0	0	0	0	1	0	0	0	6032	594	21	5	397	5	FOXR2	23	55650539	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	21501455	55650539	99620021	94	86883											
NAP1L2	4674	broad.mit.edu	37	chrX	72433489	72433489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgaaactgaggggctcGccaggatctgaaagcttaac	13	8	1	3			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:72433489G>A	uc004ebi.2	-	1	1196	c.840C>T	c.(838-840)GGC>GGT	p.G280G	NAP1L2_uc011mqj.1_Silent_p.G138G	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	280					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					TGAGGGGCTCGCCAGGATCTG	0.363													A	72433489	G	A	72433489	2	1	159	1	0	0	0	0	0	0	0	1	10157	1074	38	1		1	NAP1L2	23	72433489	Silent	SNP	G	TCGA-CD-A4MH-01A-11D-A25D-08	16782950	72433489	82837071	95	86884											
RGAG1	57529	broad.mit.edu	37	chrX	109697186	109697186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcacattaacatcacagCctctggatcaaagcccacat	4	15	4	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:109697186C>T	uc004eor.1	+	3	3587	c.3341C>T	c.(3340-3342)GCC>GTC	p.A1114V	RGAG1_uc011msr.1_Missense_Mutation_p.A1114V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1114										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AACATCACAGCCTCTGGATCA	0.517													T	109697186	C	T	109697186	3	4	159	1	0	0	0	0	1	0	0	0	13274	739	26	2	3343	2	RGAG1	23	109697186	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	37263697	109697186	45573374	96	86885											
PNCK	139728	broad.mit.edu	37	chrX	152937033	152937033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtcccacaggcggtgCctagcatgttcccagcctgg	14	14	0	0			TCGA-CD-A4MH-01A-11D-A25D-08	TCGA-CD-A4MH-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1490fffe-b92e-4616-bc91-f194f45239d2	f30b0ef5-362d-499f-82cb-d46b13803639	g.chrX:152937033C>T	uc011myu.1	-	6	944	c.758G>A	c.(757-759)GGC>GAC	p.G253D	PNCK_uc011myt.1_Missense_Mutation_p.G187D|PNCK_uc004fia.2_Missense_Mutation_p.G182D|PNCK_uc004fhz.3_Missense_Mutation_p.G68D|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.G197D|PNCK_uc011myw.1_Missense_Mutation_p.G197D	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	170	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGCGGTGCCTAGCATGTT	0.602													T	152937033	C	T	152937033	3	4	159	1	0	0	0	0	1	0	0	0	12145	739	26	2	546	2	PNCK	23	152937033	Missense_Mutation	SNP	C	TCGA-CD-A4MH-01A-11D-A25D-08	43239847	152937033	2333527	97	86886											
ACAP3	116983	broad.mit.edu	37	chr1	1229825	1229825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcttgccctcatcctccGcgtccgcccagttgacctcg	9	19	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1229825G>A	uc001aeb.2	-	21	2170	c.2096C>T	c.(2095-2097)GCG>GTG	p.A699V	ACAP3_uc001ady.2_Missense_Mutation_p.A429V|ACAP3_uc001aea.2_Missense_Mutation_p.A624V	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	699					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CTCATCCTCCGCGTCCGCCCA	0.736													A	1229825	G	A	1229825	3	1	160	1	0	0	0	0	1	0	0	0	120	1087	38	1	424	1	ACAP3	1	1229825	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		1229825	248020796	1	86887											
CPSF3L	54973	broad.mit.edu	37	chr1	1248918	1248918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtttccggcccatttccGgaagatctgcagggactgcc	11	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1248918G>A	uc001aee.1	-	10	1070	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.R344W|CPSF3L_uc009vjz.1_Missense_Mutation_p.R316W|CPSF3L_uc010nyj.1_Missense_Mutation_p.R309W|CPSF3L_uc001aeg.1_Missense_Mutation_p.R214W|CPSF3L_uc001aeh.1_Missense_Mutation_p.R237W|CPSF3L_uc001aei.1_Missense_Mutation_p.R240W|CPSF3L_uc001aej.1_Missense_Mutation_p.R165W|CPSF3L_uc001aek.1_Missense_Mutation_p.R80W	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	338						Golgi apparatus|nucleus	hydrolase activity				0	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)		GCCCATTTCCGGAAGATCTGC	0.602													A	1248918	G	A	1248918	3	1	160	1	0	0	0	0	1	0	0	0	3827	1115	39	1	822	1	CPSF3L	1	1248918	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	19093	1248918	248001703	2	86888											
TAS1R3	83756	broad.mit.edu	37	chr1	1268468	1268468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacggcagcctcaggacagaGcgcctgaagatccgctggca	13	13	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1268468G>T	uc010nyk.1	+	4	1443	c.1443G>T	c.(1441-1443)GAG>GAT	p.E481D		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	481	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	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)	TCAGGACAGAGCGCCTGAAGA	0.667													T	1268468	G	T	1268468	3	4	160	1	0	0	0	0	1	0	0	0	15561	962	34	5	1457	5	TAS1R3	1	1268468	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	19550	1268468	247982153	3	86889											
TMEM52	339456	broad.mit.edu	37	chr1	1849798	1849798	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcctgtgcctgcttccgGaggcagcagaaccggacaca	14	13	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1849798G>A	uc001aij.2	-	4	279	c.243C>T	c.(241-243)CTC>CTT	p.L81L	TMEM52_uc001aii.2_Silent_p.L66L	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	transmembrane protein 52 precursor	81						integral to membrane					0	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCTTCCGGAGGCAGCAGA	0.622													A	1849798	G	A	1849798	2	1	160	1	0	0	0	0	0	0	0	1	16175	1161	41	4		4	TMEM52	1	1849798	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	581330	1849798	247400823	4	86890											
HES3	390992	broad.mit.edu	37	chr1	6304439	6304439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgatggagaaaaagcGccgggcacgcatcaatgtgt	14	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:6304439G>A	uc009vly.1	+	2	69	c.14G>A	c.(13-15)CGC>CAC	p.R5H		NM_001024598	NP_001019769	Q5TGS1	HES3_HUMAN	hairy and enhancer of split 3	5	Basic motif.				transcription, DNA-dependent	nucleus	DNA binding				0	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-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;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|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;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		GAGAAAAAGCGCCGGGCACGC	0.622													A	6304439	G	A	6304439	3	1	160	1	0	0	0	0	1	0	0	0	7067	1087	38	1	16	1	HES3	1	6304439	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4454641	6304439	242946182	5	86891											
ZBTB48	3104	broad.mit.edu	37	chr1	6640765	6640765	+	Frame_Shift_Del	DEL	G	G	-													tgcgacgccactctggacgtGgggggcctggtgtttaaggc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:6640764_6640764TG>T	uc009vmc.2	+	1	218	c.95_95TG>T	c.(94-96)gtgfs	p.V32fs	ZBTB48_uc001anx.3_Frame_Shift_Del_p.V32fs|ZBTB48_uc009vmd.2_Frame_Shift_Del_p.V32fs	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	32	BTB.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	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;1.35e-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(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCTGGACGTGGGGGGCCTG	0.612													-	6640765	G	-	6640765	7	5	160	1	0	1	0	1	0	0	0	0	17546	1335	47	0	98	0	ZBTB48	1	6640765	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	336326	6640765	242609856	6	86892											
CAMTA1	23261	broad.mit.edu	37	chr1	7797391	7797391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgggccatctcgattcCcgactctctaggaaggctgc	11	15	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:7797391C>A	uc001aoi.2	+	15	3626	c.3419C>A	c.(3418-3420)CCC>CAC	p.P1140H	CAMTA1_uc010nzv.1_Missense_Mutation_p.P227H|CAMTA1_uc001aok.3_Missense_Mutation_p.P183H|CAMTA1_uc001aoj.2_Missense_Mutation_p.P96H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		ATCTCGATTCCCGACTCTCTA	0.572													A	7797391	C	A	7797391	3	1	160	1	0	0	0	0	1	0	0	0	2613	623	22	5	3477	5	CAMTA1	1	7797391	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1156626	7797391	241453230	7	86893											
UTS2	10911	broad.mit.edu	37	chr1	7910965	7910965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcctccggagttaagcGcgcgtcttcatgaggtgcta	12	11	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:7910965G>A	uc001aor.2	-	2	162	c.121C>T	c.(121-123)CGC>TGC	p.R41C	UTS2_uc001aoq.2_Missense_Mutation_p.R41C|UTS2_uc001aos.2_Missense_Mutation_p.R56C	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	41					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;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;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GGAGTTAAGCGCGCGTCTTCA	0.458													A	7910965	G	A	7910965	3	1	160	1	0	0	0	0	1	0	0	0	17101	1087	38	1	265	1	UTS2	1	7910965	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	113574	7910965	241339656	8	86894											
H6PD	9563	broad.mit.edu	37	chr1	9305527	9305527	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaaaccctttggccaTgaccacttctcagcccagca	7	15	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:9305527T>C	uc001apt.2	+	2	807	c.534T>C	c.(532-534)CAT>CAC	p.H178H		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	178	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	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)	CCTTTGGCCATGACCACTTCT	0.592													C	9305527	T	C	9305527	2	2	160	1	0	0	0	0	0	0	0	1	6936	1461	51	3		3	H6PD	1	9305527	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1394562	9305527	239945094	9	86895											
CORT	1325	broad.mit.edu	37	chr1	10510133	10510133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatccaggcgttagacatGtatagacacaaaaacagctg	10	8	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:10510133G>A	uc001ari.2	+	1	163	c.3G>A	c.(1-3)ATG>ATA	p.M1I	APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron	NM_001302	NP_001293	O00230	CORT_HUMAN	cortistatin preproprotein	Error:Variant_position_missing_in_O00230_after_alignment					inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission	extracellular region|soluble fraction	G-protein-coupled receptor binding|neuropeptide hormone activity				0	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;3.12e-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)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CGTTAGACATGTATAGACACA	0.512													A	10510133	G	A	10510133	3	1	160	1	0	0	0	0	1	0	0	0	3760	1377	48	4	5	4	CORT	1	10510133	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1204606	10510133	238740488	10	86896											
VPS13D	55187	broad.mit.edu	37	chr1	12337668	12337668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtatagcgagatggtatcGctctttgaaactccaaggaa	11	7	1	2	rs137909177		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:12337668G>A	uc001atv.2	+	19	4164	c.4023G>A	c.(4021-4023)TCG>TCA	p.S1341S	VPS13D_uc001atw.2_Silent_p.S1341S|VPS13D_uc001atx.2_Silent_p.S529S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1341					protein localization					ovary(4)|pancreas(1)	5	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)		AGATGGTATCGCTCTTTGAAA	0.438													A	12337668	G	A	12337668	2	1	160	1	0	0	0	0	0	0	0	1	17189	1074	38	1		1	VPS13D	1	12337668	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1827535	12337668	236912953	11	86897											
FBLIM1	54751	broad.mit.edu	37	chr1	16093879	16093879	+	Frame_Shift_Del	DEL	C	C	-													cccccattgcaggatgcccaCcccctcctcctgtcctggat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:16093878_16093878AC>A	uc001axd.1	+	4	701	c.258_258AC>A	c.(256-258)ccafs	p.P86fs	FBLIM1_uc001axe.1_Frame_Shift_Del_p.P86fs|FBLIM1_uc001axg.1_Frame_Shift_Del_p.P86fs|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	86	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGGATGCCCACCCCCTCCTC	0.622													-	16093879	C	-	16093879	7	5	160	1	0	1	0	1	0	0	0	0	5697	507	18	0	265	0	FBLIM1	1	16093879	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	3756211	16093879	233156742	12	86898											
SPEN	23013	broad.mit.edu	37	chr1	16262530	16262530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcctgcccctcatggTgaggcccgtatcctcacagt	9	17	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:16262530T>C	uc001axk.1	+	11	9999	c.9795T>C	c.(9793-9795)GGT>GGC	p.G3265G	SPEN_uc010obp.1_Silent_p.G3224G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3265	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		ccccTCATGGTGAGGCCCGTA	0.393													C	16262530	T	C	16262530	2	2	160	1	0	0	0	0	0	0	0	1	15037	1683	59	3		3	SPEN	1	16262530	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	168651	16262530	232988091	13	86899											
ZBTB17	7709	broad.mit.edu	37	chr1	16268477	16268477	+	Frame_Shift_Del	DEL	G	G	-													cgccagctcactcggcaggcGggggacattcaggagctgta							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:16268476_16268476CG>C	uc001axl.4	-	15	2639	c.2400_2400CG>G	c.(2398-2400)ccgfs	p.P800fs	ZBTB17_uc010obs.2_Frame_Shift_Del_p.P724fs|ZBTB17_uc010obq.2_Frame_Shift_Del_p.P718fs|ZBTB17_uc010obr.2_Frame_Shift_Del_p.P807fs	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	800	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)		ACTCGGCAGGCGGGGGACATT	0.627													-	16268477	G	-	16268477	7	5	160	1	0	1	0	1	0	0	0	0	17524	1116	39	0	16	0	ZBTB17	1	16268477	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	5947	16268477	232982144	14	86900											
PADI3	51702	broad.mit.edu	37	chr1	17597615	17597615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagctggccaggaaggCcggctgcaagctgaccatct	15	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:17597615C>T	uc001bai.2	+	9	1029	c.989C>T	c.(988-990)GCC>GTC	p.A330V		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	330					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		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)	GCCAGGAAGGCCGGCTGCAAG	0.642													T	17597615	C	T	17597615	3	4	160	1	0	0	0	0	1	0	0	0	11379	739	26	2	1023	2	PADI3	1	17597615	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1329138	17597615	231653006	15	86901											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17975156	17975156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctgccttctcctcccggGcactcagcctgcaggtgagt	10	17	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:17975156G>T	uc001ban.2	+	22	2539	c.2380G>T	c.(2380-2382)GCA>TCA	p.A794S	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A755S|ARHGEF10L_uc001bao.2_Missense_Mutation_p.A755S|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A750S|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A555S|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A567S|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A497S|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	794					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		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)		CTCCTCCCGGGCACTCAGCCT	0.647													T	17975156	G	T	17975156	3	4	160	1	0	0	0	0	1	0	0	0	895	1203	42	5	2462	5	ARHGEF10L	1	17975156	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	377541	17975156	231275465	16	86902											
AKR7A2	8574	broad.mit.edu	37	chr1	19632540	19632540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtggtggtacatccacCggagggcagccgaggtcaca	16	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:19632540C>T	uc001bbw.2	-	6	912	c.890G>A	c.(889-891)CGG>CAG	p.R297Q	AKR7A2_uc001bbx.2_Missense_Mutation_p.R262Q	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	297					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		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;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACATCCACCGGAGGGCAGC	0.627													T	19632540	C	T	19632540	3	4	160	1	0	0	0	0	1	0	0	0	475	652	23	1	197	1	AKR7A2	1	19632540	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1657384	19632540	229618081	17	86903											
ECE1	1889	broad.mit.edu	37	chr1	21562343	21562343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcagcagctactcacGtcattaaacactttgtccag	9	12	2	0	rs28368018	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:21562343G>A	uc001bek.2	-	13	1641	c.1566C>T	c.(1564-1566)GAC>GAT	p.D522D	ECE1_uc001bem.2_Silent_p.D506D|ECE1_uc001bej.2_Silent_p.D510D|ECE1_uc001bei.2_Silent_p.D519D|ECE1_uc010odl.1_Silent_p.D522D|ECE1_uc009vqa.1_Silent_p.D522D	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	522	Extracellular (Potential).				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			ovary(2)|skin(1)	3		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)		AGCTACTCACGTCATTAAACA	0.552													A	21562343	G	A	21562343	2	1	160	1	0	0	0	0	0	0	0	1	4889	1159	40	1		1	ECE1	1	21562343	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1929803	21562343	227688278	18	86904											
RAP1GAP	5909	broad.mit.edu	37	chr1	21926004	21926004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaggcctgtgtcctctcCgtccacaccctccgtctcct	6	21	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:21926004C>T	uc001bex.2	-	21	2017	c.1759G>A	c.(1759-1761)GGA>AGA	p.G587R	RAP1GAP_uc001bev.2_Missense_Mutation_p.G672R|RAP1GAP_uc001bew.2_Missense_Mutation_p.G651R|RAP1GAP_uc001bey.2_Missense_Mutation_p.G613R	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	587					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)|ovary(1)	3		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)		GTGTCCTCTCCGTCCACACCC	0.657													T	21926004	C	T	21926004	3	4	160	1	0	0	0	0	1	0	0	0	13037	661	23	1	248	1	RAP1GAP	1	21926004	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	363661	21926004	227324617	19	86905											
HSPG2	3339	broad.mit.edu	37	chr1	22173013	22173013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgcccggggaccacGcagttcagatccagggtctc	14	14	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:22173013G>A	uc001bfj.2	-	63	8284	c.8244C>T	c.(8242-8244)TGC>TGT	p.C2748C	HSPG2_uc009vqd.2_Silent_p.C2749C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2748	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CGGGGACCACGCAGTTCAGAT	0.627													A	22173013	G	A	22173013	2	1	160	1	0	0	0	0	0	0	0	1	7430	1079	38	1		1	HSPG2	1	22173013	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	247009	22173013	227077608	20	86906											
LYPLA2	11313	broad.mit.edu	37	chr1	24119502	24119502	+	Frame_Shift_Del	DEL	T	T	-													tcccatccttttccaggttaTttttttacatggacttggag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:24119501_24119501AT>A	uc001bht.3	+	2	203	c.82_82AT>A	c.(82-84)attfs	p.I28fs		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	28					fatty acid metabolic process	cytoplasm	hydrolase activity			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)		TTTCCAGGTTATTTTTTTACA	0.582													-	24119502	T	-	24119502	7	5	160	1	0	1	0	1	0	0	0	0	9117	1493	52	0	89	0	LYPLA2	1	24119502	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	1946489	24119502	225131119	21	86907											
FAM54B	56181	broad.mit.edu	37	chr1	26152890	26152890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggatgaagaggagacatAtgcccgggtcaggtagttga	16	6	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:26152890A>G	uc001bkq.3	+	4	437	c.227A>G	c.(226-228)TAT>TGT	p.Y76C	FAM54B_uc001bkr.3_Missense_Mutation_p.Y76C|FAM54B_uc010oet.1_Missense_Mutation_p.Y109C|FAM54B_uc009vrz.2_Missense_Mutation_p.Y73C|LOC646471_uc010oeu.1_5'Flank|FAM54B_uc001bks.3_Missense_Mutation_p.Y76C|FAM54B_uc001bkt.3_Missense_Mutation_p.Y76C|FAM54B_uc001bku.3_Missense_Mutation_p.Y73C|FAM54B_uc001bkv.3_Translation_Start_Site	NM_001099625	NP_001093095	Q9H019	FA54B_HUMAN	hypothetical protein LOC56181 isoform a	76										pancreas(1)	1		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|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;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGACATATGCCCGGGTC	0.552													G	26152890	A	G	26152890	3	3	160	1	0	0	0	0	1	0	0	0	5583	449	16	3	237	3	FAM54B	1	26152890	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2033388	26152890	223097731	22	86908											
PAQR7	164091	broad.mit.edu	37	chr1	26189692	26189692	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactaatgtccagtgcgtaGgccaggacggagggcacctc	15	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:26189692G>T	uc001bkx.2	-	2	1306	c.639C>A	c.(637-639)GCC>GCA	p.A213A		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	213	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		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)		CCAGTGCGTAGGCCAGGACGG	0.577													T	26189692	G	T	26189692	2	4	160	1	0	0	0	0	0	0	0	1	11440	987	35	5		5	PAQR7	1	26189692	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	36802	26189692	223060929	23	86909											
PIGV	55650	broad.mit.edu	37	chr1	27117357	27117357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaggtttgcagtcagCtgccgtatcctgactctgat	12	10	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:27117357C>T	uc001bmz.2	+	2	382	c.51C>T	c.(49-51)AGC>AGT	p.S17S	PIGV_uc001bmy.2_5'UTR|PIGV_uc009vso.2_Silent_p.S17S|PIGV_uc010ofg.1_5'UTR|PIGV_uc001bna.2_Silent_p.S17S	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	17	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		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)		TTGCAGTCAGCTGCCGTATCC	0.542													T	27117357	C	T	27117357	2	4	160	1	0	0	0	0	0	0	0	1	11901	796	28	2		2	PIGV	1	27117357	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	927665	27117357	222133264	24	86910											
NR0B2	8431	broad.mit.edu	37	chr1	27240396	27240396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggcggcttgcagctccCtggcatgggcaggcccctgg	18	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:27240396C>T	uc001bnf.2	-	1	172	c.36G>A	c.(34-36)CAG>CAA	p.Q12Q		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	12					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		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)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|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)		TTGCAGCTCCCTGGCATGGGC	0.622													T	27240396	C	T	27240396	2	4	160	1	0	0	0	0	0	0	0	1	10614	680	24	4		4	NR0B2	1	27240396	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	123039	27240396	222010225	25	86911											
C1orf172	126695	broad.mit.edu	37	chr1	27277975	27277975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactaatgcgaatgatgccGcgtaccaggcggccctcagc	12	13	1	1	rs142079202		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:27277975G>A	uc001bni.1	-	2	986	c.897C>T	c.(895-897)CGC>CGT	p.R299R		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	299										large_intestine(1)|ovary(1)	2		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)		GAATGATGCCGCGTACCAGGC	0.602													A	27277975	G	A	27277975	2	1	160	1	0	0	0	0	0	0	0	1	2013	1074	38	1		1	C1orf172	1	27277975	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	37579	27277975	221972646	26	86912											
MECR	51102	broad.mit.edu	37	chr1	29522757	29522757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccccccataggttaccaTggttcctccacgcctgaaaa	6	16	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:29522757T>C	uc001brq.1	-	8	880	c.844A>G	c.(844-846)ATG>GTG	p.M282V	MECR_uc001brp.1_Missense_Mutation_p.M206V|MECR_uc001brr.1_Missense_Mutation_p.M206V|MECR_uc001brs.1_RNA	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	282					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TAGGTTACCATGGTTCCTCCA	0.592													C	29522757	T	C	29522757	3	2	160	1	0	0	0	0	1	0	0	0	9424	1464	51	3	289	3	MECR	1	29522757	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2244782	29522757	219727864	27	86913											
CSMD2	114784	broad.mit.edu	37	chr1	34011768	34011768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaagctgtcccccaaaCggatgccatgagccgggatc	11	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:34011768C>T	uc001bxn.1	-	56	8566	c.8537G>A	c.(8536-8538)CGT>CAT	p.R2846H	CSMD2_uc001bxm.1_Missense_Mutation_p.R2990H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2846	Extracellular (Potential).|Sushi 20.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCCCAAACGGATGCCATG	0.567													T	34011768	C	T	34011768	3	4	160	1	0	0	0	0	1	0	0	0	3945	536	19	1	1982	1	CSMD2	1	34011768	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4489011	34011768	215238853	28	86914											
EIF2C1	26523	broad.mit.edu	37	chr1	36359342	36359342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacccgctggggggtgggCgcgaggtctggttcggcttt	18	11	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:36359342C>T	uc001bzl.2	+	5	793	c.580C>T	c.(580-582)CGC>TGC	p.R194C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R119C|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	194					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGGGGTGGGCGCGAGGTCTG	0.632													T	36359342	C	T	36359342	3	4	160	1	0	0	0	0	1	0	0	0	5005	768	27	1	598	1	EIF2C1	1	36359342	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2347574	36359342	212891279	29	86915											
NDUFS5	4725	broad.mit.edu	37	chr1	39500070	39500070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctttgacagatgagaCgtgcaggtaccatcaggaag	11	8	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:39500070C>T	uc001ccx.2	+	3	294	c.223C>T	c.(223-225)CGT>TGT	p.R75C	NDUFS5_uc001ccy.2_Missense_Mutation_p.R75C	NM_004552	NP_004543	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5,	75					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				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	ACAGATGAGACGTGCAGGTAC	0.453													T	39500070	C	T	39500070	3	4	160	1	0	0	0	0	1	0	0	0	10295	536	19	1	229	1	NDUFS5	1	39500070	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3140728	39500070	209750551	30	86916											
MACF1	23499	broad.mit.edu	37	chr1	39753194	39753194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagatgaaggcaatctccGatttgtgtatgaactactgt	10	6	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:39753194G>A	uc010ois.1	+	16	1965	c.1760G>A	c.(1759-1761)CGA>CAA	p.R587Q	MACF1_uc001cda.1_Missense_Mutation_p.R495Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	587					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GGCAATCTCCGATTTGTGTAT	0.468													A	39753194	G	A	39753194	3	1	160	1	0	0	0	0	1	0	0	0	9144	1058	37	1	1814	1	MACF1	1	39753194	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	253124	39753194	209497427	31	86917											
SMAP2	64744	broad.mit.edu	37	chr1	40881993	40881993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcactgtatggatcccagaCgcctcaaatgcctactcaag	7	13	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:40881993C>T	uc001cfj.2	+	8	892	c.827C>T	c.(826-828)ACG>ATG	p.T276M	SMAP2_uc010ojh.1_Missense_Mutation_p.T276M|SMAP2_uc001cfk.2_Missense_Mutation_p.T246M|SMAP2_uc010oji.1_Missense_Mutation_p.T193M|SMAP2_uc010ojj.1_Missense_Mutation_p.T92M	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	276					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|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;1.04e-17)			GGATCCCAGACGCCTCAAATG	0.458													T	40881993	C	T	40881993	3	4	160	1	0	0	0	0	1	0	0	0	14767	536	19	1	857	1	SMAP2	1	40881993	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1128799	40881993	208368628	32	86918											
TIE1	7075	broad.mit.edu	37	chr1	43773592	43773592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagtgcactgtgagaagTcaggtataagcactatgacc	12	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:43773592T>C	uc001ciu.2	+	7	1118	c.1039T>C	c.(1039-1041)TCA>CCA	p.S347P	TIE1_uc010okd.1_Missense_Mutation_p.S347P|TIE1_uc010oke.1_Missense_Mutation_p.S302P|TIE1_uc009vwq.2_Missense_Mutation_p.S303P|TIE1_uc010okf.1_Intron|TIE1_uc010okg.1_Intron|TIE1_uc010okc.1_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	347	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTGAGAAGTCAGGTATAAG	0.547													C	43773592	T	C	43773592	3	2	160	1	0	0	0	0	1	0	0	0	15890	1667	58	3	1065	3	TIE1	1	43773592	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2891599	43773592	205477029	33	86919											
KDM4A	9682	broad.mit.edu	37	chr1	44118953	44118953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atacattgcctacattgaatCccaaggagctcatcgggcag	9	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:44118953C>T	uc001cjx.2	+	2	273	c.107C>T	c.(106-108)TCC>TTC	p.S36F	KDM4A_uc010oki.1_Missense_Mutation_p.S36F	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	36	JmjN.				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			skin(1)	1						TACATTGAATCCCAAGGAGCT	0.433													T	44118953	C	T	44118953	3	4	160	1	0	0	0	0	1	0	0	0	8128	855	30	4	109	4	KDM4A	1	44118953	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	345361	44118953	205131668	34	86920											
TOE1	114034	broad.mit.edu	37	chr1	45808537	45808537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgggaaaatgggaagcagCgggcagctggcagcccacac	15	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:45808537C>T	uc009vxq.2	+	7	1358	c.775C>T	c.(775-777)CGG>TGG	p.R259W	MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R179W|TOE1_uc010oln.1_3'UTR|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	259						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGGGAAGCAGCGGGCAGCTGG	0.423													T	45808537	C	T	45808537	3	4	160	1	0	0	0	0	1	0	0	0	16346	759	27	1	801	1	TOE1	1	45808537	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1689584	45808537	203442084	35	86921											
RAD54L	8438	broad.mit.edu	37	chr1	46739833	46739833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatacgtccgcctggatgGcacgatgtccattaagaagc	10	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:46739833G>A	uc009vye.2	+	16	1748	c.1634G>A	c.(1633-1635)GGC>GAC	p.G545D	RAD54L_uc001cpl.2_Missense_Mutation_p.G545D|RAD54L_uc001cpm.1_Missense_Mutation_p.G328D	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	545	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CGCCTGGATGGCACGATGTCC	0.423								Direct_reversal_of_damage|Homologous_recombination					A	46739833	G	A	46739833	3	1	160	1	0	0	0	0	1	0	0	0	12993	1203	42	2	1692	2	RAD54L	1	46739833	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	931296	46739833	202510788	36	86922											
RAD54L	8438	broad.mit.edu	37	chr1	46740228	46740228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccctgactttgtcttcAtgctgagcagcaaagctggg	12	10	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:46740228A>G	uc009vye.2	+	17	1822	c.1708A>G	c.(1708-1710)ATG>GTG	p.M570V	RAD54L_uc001cpl.2_Missense_Mutation_p.M570V|RAD54L_uc001cpm.1_Missense_Mutation_p.M353V	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	570	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTTTGTCTTCATGCTGAGCAG	0.527								Direct_reversal_of_damage|Homologous_recombination					G	46740228	A	G	46740228	3	3	160	1	0	0	0	0	1	0	0	0	12993	217	8	3	1770	3	RAD54L	1	46740228	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	395	46740228	202510393	37	86923											
STIL	6491	broad.mit.edu	37	chr1	47717309	47717309	+	Frame_Shift_Del	DEL	T	T	-													agtccatatctcttcatataTtttttggttgcaaatgacat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:47717308_47717308AT>A	uc001crd.1	-	16	3522	c.3367_3367AT>T	c.(3367-3369)tatfs	p.Y1123fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.Y1076fs|STIL_uc010omo.1_Frame_Shift_Del_p.Y1105fs|STIL_uc001crc.1_Frame_Shift_Del_p.Y1122fs|STIL_uc001cre.1_Frame_Shift_Del_p.Y1122fs	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1122					cell proliferation|multicellular organismal development	centrosome|cytosol				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)				CTCTTCATATATTTTTTGGTT	0.373													-	47717309	T	-	47717309	7	5	160	1	0	1	0	1	0	0	0	0	15281	1490	52	0	504	0	STIL	1	47717309	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	977081	47717309	201533312	38	86924											
NRD1	4898	broad.mit.edu	37	chr1	52254957	52254957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgagtgttgttgtgaaaGccctgatatcagtaatgggg	15	4	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:52254957G>A	uc001ctc.3	-	33	3933	c.3611C>T	c.(3610-3612)GCT>GTT	p.A1204V	NRD1_uc009vzb.2_Missense_Mutation_p.A899V|NRD1_uc001ctd.3_Missense_Mutation_p.A1136V	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	1135				DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1).	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				0						TGTTGTGAAAGCCCTGATATC	0.413													A	52254957	G	A	52254957	3	1	160	1	0	0	0	0	1	0	0	0	10645	971	34	2	52	2	NRD1	1	52254957	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4537648	52254957	196995664	39	86925											
KTI12	112970	broad.mit.edu	37	chr1	52498938	52498938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtacgtcggcctgggCacttccatttactacagagt	11	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:52498938C>T	uc001ctj.1	-	1	535	c.496G>A	c.(496-498)GCC>ACC	p.A166T	TXNDC12_uc001cti.2_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated	166							ATP binding			central_nervous_system(2)	2						TCGGCCTGGGCACTTCCATTT	0.612													T	52498938	C	T	52498938	3	4	160	1	0	0	0	0	1	0	0	0	8584	710	25	2	572	2	KTI12	1	52498938	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	243981	52498938	196751683	40	86926											
LRP8	7804	broad.mit.edu	37	chr1	53715091	53715091	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctcggaaagagggttcttCgggagttggtgcagctgtga	17	6	1	2	rs145707126		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:53715091C>T	uc001cvi.1	-	18	2956	c.2814G>A	c.(2812-2814)CCG>CCA	p.P938P	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Silent_p.P768P|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	938	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						GAGGGTTCTTCGGGAGTTGGT	0.363													T	53715091	C	T	53715091	2	4	160	1	0	0	0	0	0	0	0	1	8963	871	31	1		1	LRP8	1	53715091	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1216153	53715091	195535530	41	86927											
LRRC42	115353	broad.mit.edu	37	chr1	54428072	54428072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taactgcaagacagagggctGggctgaccaggtactccaga	13	10	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:54428072G>T	uc001cwj.1	+	6	1117	c.917G>T	c.(916-918)TGG>TTG	p.W306L	LRRC42_uc001cwl.1_Missense_Mutation_p.W306L|LRRC42_uc001cwk.1_Missense_Mutation_p.W306L|LRRC42_uc009vzm.1_Missense_Mutation_p.W306L	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	306											0						ACAGAGGGCTGGGCTGACCAG	0.433													T	54428072	G	T	54428072	3	4	160	1	0	0	0	0	1	0	0	0	9000	1357	47	5	935	5	LRRC42	1	54428072	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	712981	54428072	194822549	42	86928											
ROR1	4919	broad.mit.edu	37	chr1	64516359	64516359	+	Splice_Site	DEL	C	C	-													ttttctttcatttcttcaggCccccctcccactgcaagtcc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:64516358_64516358GC>G	uc001dbj.2	+	4	851	c.452_splice	c.e4-1	p.G151_splice	ROR1_uc001dbi.4_Splice_Site_p.G151_splice	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			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						ATTTCTTCAGGCCCCCCTCCC	0.398													-	64516359	C	-	64516359	8	5	160	1	0	1	0	1	0	0	1	0	13526	753	26	0	467	0	ROR1	1	64516359	Splice_Site	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	10088287	64516359	184734262	43	86929											
ROR1	4919	broad.mit.edu	37	chr1	64608186	64608187	+	Frame_Shift_Ins	INS	-	-	CA													atggaattcccagtatccccINSacacacacactttcaccgcc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:64608185_64608186C>CCA	uc001dbj.2	+	6	1425_1426	c.1026_1027C>CCA	c.(1024-1029)ccccacfs	p.P342fs	ROR1_uc001dbi.4_Frame_Shift_Ins_p.P342fs|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	342	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			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						CCCAGTATCCCCACACACACAC	0.554													CA	64608187	-	CA	64608186	7	5	160	1	0	1	1	0	0	0	0	0	13526	594	21	0	1053	0	ROR1	1	64608186	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	91827	64608186	184642435	44	86930											
DEPDC1	55635	broad.mit.edu	37	chr1	68947796	68947796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagttctattgtacttttGcagagtcttttattgattgt	8	4	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:68947796G>A	uc001dem.3	-	8	1812	c.1695C>T	c.(1693-1695)TGC>TGT	p.C565C	DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	565					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTGTACTTTTGCAGAGTCTTT	0.383													A	68947796	G	A	68947796	2	1	160	1	0	0	0	0	0	0	0	1	4439	1311	46	2		2	DEPDC1	1	68947796	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4339610	68947796	180302825	45	86931											
C1orf173	127254	broad.mit.edu	37	chr1	75055401	75055401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttactcttatccttttccTtttcttctgcagaaacatgt	4	11	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:75055401T>G	uc001dgg.2	-	12	2309	c.2090A>C	c.(2089-2091)AAG>ACG	p.K697T	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.K491T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	697	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						ATCCTTTTCCTTTTCTTCTGC	0.458													G	75055401	T	G	75055401	3	3	160	1	0	0	0	0	1	0	0	0	2014	1609	56	5	2514	5	C1orf173	1	75055401	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	6107605	75055401	174195220	46	86932											
PIGK	10026	broad.mit.edu	37	chr1	77635038	77635038	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctggtttgggatttctAggattacaggccatatcatc	11	7	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:77635038A>G	uc001dhk.2	-	4	327	c.282T>C	c.(280-282)CCT>CCC	p.P94P	PIGK_uc010orj.1_Intron|PIGK_uc009wbx.2_Intron|PIGK_uc001dhl.1_Silent_p.P94P	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	94	Lumenal (Potential).				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			ovary(2)|pancreas(1)	3						TGGGATTTCTAGGATTACAGG	0.333													G	77635038	A	G	77635038	2	3	160	1	0	0	0	0	0	0	0	1	11890	407	15	3		3	PIGK	1	77635038	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2579637	77635038	171615583	47	86933											
LPHN2	23266	broad.mit.edu	37	chr1	82447518	82447519	+	Frame_Shift_Ins	INS	-	-	T													gtgcttggcgctttcgctctINStctgtgtcttcttggcctca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:82447517_82447518C>CT	uc001dit.4	+	17	3269_3270	c.3088_3089C>CT	c.(3088-3090)cttfs	p.L1030fs	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc001div.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc009wcd.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc001diw.3_Frame_Shift_Ins_p.L614fs|LPHN2_uc009wce.1_Frame_Shift_Ins_p.L131fs	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1043					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A1029T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTTTCGCTCTTCTGTGTCTT	0.386													T	82447519	-	T	82447518	7	5	160	1	0	1	1	0	0	0	0	0	8916	1609	56	0	3151	0	LPHN2	1	82447518	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	4812480	82447518	166803103	48	86934											
C1orf52	148423	broad.mit.edu	37	chr1	85725277	85725277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctgctgctcccgtatgCcgcaaaatagctcagagggt	12	11	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:85725277C>T	uc001dkv.2	-	1	79	c.40G>A	c.(40-42)GCA>ACA	p.A14T	C1orf52_uc001dkw.2_RNA|C1orf52_uc001dkx.3_RNA|C1orf52_uc009wcn.2_Missense_Mutation_p.A14T	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN	hypothetical protein LOC148423	14										ovary(1)	1				all cancers(265;0.0105)|Epithelial(280;0.0293)		CTCCCGTATGCCGCAAAATAG	0.652											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	85725277	C	T	85725277	3	4	160	1	0	0	0	0	1	0	0	0	2044	739	26	2	520	2	C1orf52	1	85725277	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3277759	85725277	163525344	49	86935											
GTF2B	2959	broad.mit.edu	37	chr1	89325946	89325946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttagaattgccaaattcGtcaaaacttgcagctcctgt	6	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:89325946G>A	uc001dmo.3	-	4	401	c.282C>T	c.(280-282)GAC>GAT	p.D94D	GTF2B_uc009wcw.1_RNA	NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	94					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	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TGCCAAATTCGTCAAAACTTG	0.353													A	89325946	G	A	89325946	2	1	160	1	0	0	0	0	0	0	0	1	6855	1136	40	1		1	GTF2B	1	89325946	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3600669	89325946	159924675	50	86936											
CCBL2	56267	broad.mit.edu	37	chr1	89408751	89408751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgagttacagaatgcTgaaacggggatggctgatag	14	6	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:89408751T>C	uc001dmp.2	-	13	1616	c.1239A>G	c.(1237-1239)TCA>TCG	p.S413S	CCBL2_uc001dmq.2_Silent_p.S379S|CCBL2_uc001dmr.2_Silent_p.S249S	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	413					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			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TACAGAATGCTGAAACGGGGA	0.308													C	89408751	T	C	89408751	2	2	160	1	0	0	0	0	0	0	0	1	2733	1567	55	3		3	CCBL2	1	89408751	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	82805	89408751	159841870	51	86937											
GBP7	388646	broad.mit.edu	37	chr1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C													cttctaagtagatattgtgcINSccccccggaacaaagaaagt					rs138127555		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						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)		TAGATATTGTGCCCCCCCGGAA	0.436													C	89613323	-	C	89613322	7	5	160	1	0	1	1	0	0	0	0	0	6279	726	26	0	639	0	GBP7	1	89613322	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	204571	89613322	159637299	52	86938											
TGFBR3	7049	broad.mit.edu	37	chr1	92161320	92161320	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatcacggttagggtgtcCagaccatggaaaattgctat	10	10	1	1	rs142345668		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:92161320C>A	uc001doh.2	-	16	2812	c.2346G>T	c.(2344-2346)CTG>CTT	p.L782L	TGFBR3_uc009wde.2_Silent_p.L477L|TGFBR3_uc010osy.1_Silent_p.L740L|TGFBR3_uc001doi.2_Silent_p.L781L|TGFBR3_uc001doj.2_Silent_p.L781L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	782	Extracellular (Potential).				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			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTAGGGTGTCCAGACCATGGA	0.448													A	92161320	C	A	92161320	2	1	160	1	0	0	0	0	0	0	0	1	15820	581	21	5		5	TGFBR3	1	92161320	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2547998	92161320	157089301	53	86939											
MTF2	22823	broad.mit.edu	37	chr1	93583921	93583921	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtatttgaagatgctaCagtgctgcaaatgtaagcag	12	6	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:93583921C>T	uc009wdj.2	+	7	944	c.652C>T	c.(652-654)CAG>TAG	p.Q218*	MTF2_uc001dph.2_Nonsense_Mutation_p.Q116*|MTF2_uc010oth.1_Nonsense_Mutation_p.Q116*|MTF2_uc009wdk.2_Nonsense_Mutation_p.Q218*|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Nonsense_Mutation_p.Q116*|MTF2_uc001dpj.3_Nonsense_Mutation_p.Q116*|MTF2_uc001dpl.3_Nonsense_Mutation_p.Q116*	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	218	PHD-type 2.					nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		GAAGATGCTACAGTGCTGCAA	0.338													T	93583921	C	T	93583921	4	4	160	1	0	0	0	0	0	1	0	0	9923	479	17	4	678	4	MTF2	1	93583921	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1422601	93583921	155666700	54	86940											
CCDC18	343099	broad.mit.edu	37	chr1	93659237	93659237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaggaacagagtttgcagGagtccaaagaggaatgtata	12	4	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:93659237G>A	uc001dpq.2	+	6	1156	c.988G>A	c.(988-990)GAG>AAG	p.E330K		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	212	Potential.									ovary(2)|breast(2)|pancreas(1)	5		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)		GAGTTTGCAGGAGTCCAAAGA	0.323													A	93659237	G	A	93659237	3	1	160	1	0	0	0	0	1	0	0	0	2794	1175	41	4	1010	4	CCDC18	1	93659237	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	75316	93659237	155591384	55	86941											
ABCA4	24	broad.mit.edu	37	chr1	94466610	94466610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgatgctcacgatgaCgttccacagcatgcggcgtg	12	11	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:94466610C>T	uc001dqh.2	-	46	6438	c.6334G>A	c.(6334-6336)GTC>ATC	p.V2112I		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2112	ABC transporter 2.|Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		CTCACGATGACGTTCCACAGC	0.637													T	94466610	C	T	94466610	3	4	160	1	0	0	0	0	1	0	0	0	34	536	19	1	507	1	ABCA4	1	94466610	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	807373	94466610	154784011	56	86942											
SLC35A3	23443	broad.mit.edu	37	chr1	100480964	100480964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccgactgacctggatagtAgttgttcttcaggtaaagca	10	8	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:100480964A>G	uc001dsp.1	+	6	938	c.741A>G	c.(739-741)GTA>GTG	p.V247V	SLC35A3_uc001dsq.1_Silent_p.V247V|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Silent_p.V289V|SLC35A3_uc001dss.1_Silent_p.V166V	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	247	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CCTGGATAGTAGTTGTTCTTC	0.318													G	100480964	A	G	100480964	2	3	160	1	0	0	0	0	0	0	0	1	14572	407	15	3		3	SLC35A3	1	100480964	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	6014354	100480964	148769657	57	86943											
SARS	6301	broad.mit.edu	37	chr1	109756660	109756660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtggataaaggaggggacCcagccctcatccgagagacg	16	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:109756660C>A	uc001dwu.1	+	1	121	c.46C>A	c.(46-48)CCA>ACA	p.P16T	SARS_uc001dwt.1_Missense_Mutation_p.P16T|SARS_uc001dwv.1_Missense_Mutation_p.P16T|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.P16T|SARS_uc009wfa.1_Missense_Mutation_p.P16T|SARS_uc001dwy.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	16					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGGAGGGGACCCAGCCCTCAT	0.597													A	109756660	C	A	109756660	3	1	160	1	0	0	0	0	1	0	0	0	13844	623	22	5	48	5	SARS	1	109756660	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9275696	109756660	139493961	58	86944											
AMPD2	271	broad.mit.edu	37	chr1	110173646	110173646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggaccaatgtgccagacAtccgcgtgggctaccgctac	12	15	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110173646A>G	uc009wfh.1	+	19	3054	c.2512A>G	c.(2512-2514)ATC>GTC	p.I838V	AMPD2_uc001dyb.1_Missense_Mutation_p.I757V|AMPD2_uc001dyc.1_Missense_Mutation_p.I838V|AMPD2_uc010ovr.1_Missense_Mutation_p.I763V|AMPD2_uc001dyd.1_Missense_Mutation_p.I719V|AMPD2_uc001dye.1_Missense_Mutation_p.I107V	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	838					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		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)		TGTGCCAGACATCCGCGTGGG	0.617													G	110173646	A	G	110173646	3	3	160	1	0	0	0	0	1	0	0	0	586	217	8	3	2623	3	AMPD2	1	110173646	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	416986	110173646	139076975	59	86945											
CSF1	1435	broad.mit.edu	37	chr1	110459942	110459942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgctaccttaagaagGcatttctcctggtacaagac	9	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110459942G>A	uc001dyu.2	+	4	666	c.253G>A	c.(253-255)GCA>ACA	p.A85T	CSF1_uc001dyt.2_Missense_Mutation_p.A85T|CSF1_uc001dyv.3_Missense_Mutation_p.A85T|CSF1_uc001dyw.3_Missense_Mutation_p.A85T	NM_172212	NP_757351	P09603	CSF1_HUMAN	colony stimulating factor 1 isoform a precursor	85	Lumenal (Potential).				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTTAAGAAGGCATTTCTCCT	0.522													A	110459942	G	A	110459942	3	1	160	1	0	0	0	0	1	0	0	0	3931	1203	42	2	267	2	CSF1	1	110459942	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	286296	110459942	138790679	60	86946											
AHCYL1	10768	broad.mit.edu	37	chr1	110561200	110561200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcactccggagctgacGtgggagcgagtacgttctca	13	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110561200G>A	uc001dyx.2	+	13	1612	c.1245G>A	c.(1243-1245)ACG>ACA	p.T415T	AHCYL1_uc010ovw.1_Silent_p.T368T|AHCYL1_uc001dyy.2_Silent_p.T368T|AHCYL1_uc010ovx.1_Silent_p.T368T	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	415	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CGGAGCTGACGTGGGAGCGAG	0.512													A	110561200	G	A	110561200	2	1	160	1	0	0	0	0	0	0	0	1	410	1132	40	1		1	AHCYL1	1	110561200	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	101258	110561200	138689421	61	86947											
RBM15	64783	broad.mit.edu	37	chr1	110882873	110882873	+	Frame_Shift_Del	DEL	C	C	-													tctgtaggtggtcaccggcaCccccctggaggtggtggagg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110882872_110882872AC>A	uc001dzl.1	+	0	928	c.845_845AC>A	c.(844-846)cacfs	p.H282fs	RBM15_uc001dzm.1_Frame_Shift_Del_p.H282fs|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Frame_Shift_Del_p.H282fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	282					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein 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)		GGTCACCGGCACCCCCCTGGA	0.622			T	MKL1	acute megakaryocytic leukemia								-	110882873	C	-	110882873	7	5	160	1	0	1	0	1	0	0	0	0	13116	506	18	0	848	0	RBM15	1	110882873	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	321673	110882873	138367748	62	86948											
KCNA10	3744	broad.mit.edu	37	chr1	111060821	111060821	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagaactgacggtggatgtCattggtgggtagcagtgttt	15	6	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:111060821C>A	uc001dzt.1	-	1	977	c.589G>T	c.(589-591)GAC>TAC	p.D197Y		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	197						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		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)		CGGTGGATGTCATTGGTGGGT	0.537													A	111060821	C	A	111060821	3	1	160	1	0	0	0	0	1	0	0	0	8002	826	29	5	950	5	KCNA10	1	111060821	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	177948	111060821	138189800	63	86949											
KCND3	3752	broad.mit.edu	37	chr1	112525054	112525054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgcagcttccccgtgcGgtagaagttgagcacgcagc	14	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:112525054G>A	uc001ebu.1	-	2	775	c.295C>T	c.(295-297)CGC>TGC	p.R99C	KCND3_uc001ebv.1_Missense_Mutation_p.R99C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	99	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		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)		TTCCCCGTGCGGTAGAAGTTG	0.612													A	112525054	G	A	112525054	3	1	160	1	0	0	0	0	1	0	0	0	8020	1116	39	1	1700	1	KCND3	1	112525054	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1464233	112525054	136725567	64	86950											
PTGFRN	5738	broad.mit.edu	37	chr1	117487714	117487714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgatccagccatcaGgtgagctggaaacgatgcgt	14	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:117487714G>T	uc001egv.1	+	3	969	c.832G>T	c.(832-834)GTT>TTT	p.V278F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	278	Ig-like C2-type 3.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	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)		CCAGCCATCAGGTGAGCTGGA	0.522													T	117487714	G	T	117487714	3	4	160	1	0	0	0	0	1	0	0	0	12750	1014	35	5	842	5	PTGFRN	1	117487714	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4962660	117487714	131762907	65	86951											
MAN1A2	10905	broad.mit.edu	37	chr1	117910865	117910865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccacctctgaacctgggGccgccttccttcccacatca	6	18	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:117910865G>A	uc001ehd.1	+	1	781	c.60G>A	c.(58-60)GGG>GGA	p.G20G	MAN1A2_uc009whg.1_5'UTR	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	20	Cytoplasmic (Potential).				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				0	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)		TGAACCTGGGGCCGCCTTCCT	0.493													A	117910865	G	A	117910865	2	1	160	1	0	0	0	0	0	0	0	1	9211	1190	42	2		2	MAN1A2	1	117910865	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	423151	117910865	131339756	66	86952											
HMGCS2	3158	broad.mit.edu	37	chr1	120301892	120301892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatacacattctccatatgGgttcccctcagccctggaaa	6	14	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:120301892G>A	uc001eid.2	-	4	750	c.699C>T	c.(697-699)ACC>ACT	p.T233T	HMGCS2_uc010oxj.1_Silent_p.T191T|HMGCS2_uc001eie.2_Silent_p.T141T	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	233					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	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)		TCTCCATATGGGTTCCCCTCA	0.473													A	120301892	G	A	120301892	2	1	160	1	0	0	0	0	0	0	0	1	7233	1219	43	4		4	HMGCS2	1	120301892	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2391027	120301892	128948729	67	86953											
NOTCH2	4853	broad.mit.edu	37	chr1	120458270	120458270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcccgtcctgctgggGcatcatggcagtggggaaag	15	11	1	0	rs75831573	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:120458270G>A	uc001eik.2	-	34	7331	c.7075C>T	c.(7075-7077)CCC>TCC	p.P2359S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2359	Cytoplasmic (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TCCTGCTGGGGCATCATGGCA	0.607			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120458270	G	A	120458270	3	1	160	1	0	0	0	0	1	0	0	0	10548	1203	42	2	344	2	NOTCH2	1	120458270	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	156378	120458270	128792351	68	86954											
NOTCH2	4853	broad.mit.edu	37	chr1	120461946	120461946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctttacctggaagacacCttgggcatcagctgccactg	10	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:120461946C>A	uc001eik.2	-	31	6026	c.5770G>T	c.(5770-5772)GGT>TGT	p.G1924C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1924	ANK 3.|Cytoplasmic (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TGGAAGACACCTTGGGCATCA	0.383			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120461946	C	A	120461946	3	1	160	1	0	0	0	0	1	0	0	0	10548	681	24	5	1661	5	NOTCH2	1	120461946	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3676	120461946	128788675	69	86955											
SV2A	9900	broad.mit.edu	37	chr1	149885019	149885020	+	Frame_Shift_Ins	INS	-	-	C													accctccccatcactcaagcINSccccccttactccagccagg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:149885018_149885019G>GC	uc001etg.3	-	1	865_866	c.374_375C>GC	c.(373-375)ggcfs	p.G125fs	SV2A_uc001eth.2_Frame_Shift_Ins_p.G125fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	125					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)	CATCACTCAAGCCCCCCCTTAC	0.629													C	149885020	-	C	149885019	7	5	160	1	0	1	1	0	0	0	0	0	15414	739	26	0	1902	0	SV2A	1	149885019	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	29423073	149885019	99365602	70	86956											
ECM1	1893	broad.mit.edu	37	chr1	150483519	150483519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaatctgccttcctaacCgtcagcatgtggtatatggt	8	11	2	0	rs150625690		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:150483519C>T	uc001eus.2	+	6	752	c.553C>T	c.(553-555)CGT>TGT	p.R185C	ECM1_uc010pce.1_Missense_Mutation_p.R114C|ECM1_uc010pcf.1_Missense_Mutation_p.R107C|ECM1_uc001eut.2_Missense_Mutation_p.R185C|ECM1_uc001euu.2_Missense_Mutation_p.R214C|ECM1_uc001euv.2_Missense_Mutation_p.R212C|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	185	2 X approximate repeats.|1.				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			ovary(2)|central_nervous_system(1)	3	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)			CCTTCCTAACCGTCAGCATGT	0.587													T	150483519	C	T	150483519	3	4	160	1	0	0	0	0	1	0	0	0	4897	652	23	1	575	1	ECM1	1	150483519	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	598500	150483519	98767102	71	86957											
SETDB1	9869	broad.mit.edu	37	chr1	150936529	150936529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggatacccatgatcttcGcttcccctgggtggccttct	10	14	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:150936529G>A	uc001evu.2	+	21	3918	c.3728G>A	c.(3727-3729)CGC>CAC	p.R1243H	SETDB1_uc001evv.2_Missense_Mutation_p.R1243H	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1243	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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			CATGATCTTCGCTTCCCCTGG	0.527													A	150936529	G	A	150936529	3	1	160	1	0	0	0	0	1	0	0	0	14138	1087	38	1	3806	1	SETDB1	1	150936529	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	453010	150936529	98314092	72	86958											
PIP5K1A	8394	broad.mit.edu	37	chr1	151210663	151210663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgccttttccagtatggGtggcatccctgcccggaata	10	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:151210663G>A	uc001exj.2	+	10	1603	c.1151G>A	c.(1150-1152)GGT>GAT	p.G384D	PIP5K1A_uc001exi.2_Missense_Mutation_p.G371D|PIP5K1A_uc010pcu.1_Intron|PIP5K1A_uc001exk.2_Missense_Mutation_p.G371D|PIP5K1A_uc010pcv.1_Missense_Mutation_p.G141D	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	384	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	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;0.181)			TCCAGTATGGGTGGCATCCCT	0.453													A	151210663	G	A	151210663	3	1	160	1	0	0	0	0	1	0	0	0	11939	1261	44	4	1189	4	PIP5K1A	1	151210663	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	274134	151210663	98039958	73	86959											
TUFT1	7286	broad.mit.edu	37	chr1	151546755	151546755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttttaggtcacactcAgccggtaccagagggaagca	12	11	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:151546755A>G	uc001eyl.2	+	8	666	c.604A>G	c.(604-606)AGC>GGC	p.S202G	TUFT1_uc001eym.2_Missense_Mutation_p.S177G|TUFT1_uc010pdf.1_Missense_Mutation_p.S221G|TUFT1_uc010pdg.1_Missense_Mutation_p.S150G	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	202	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	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)			GGTCACACTCAGCCGGTACCA	0.498											OREG0003906	type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	151546755	A	G	151546755	3	3	160	1	0	0	0	0	1	0	0	0	16769	188	7	3	634	3	TUFT1	1	151546755	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	336092	151546755	97703866	74	86960											
HRNR	388697	broad.mit.edu	37	chr1	152187511	152187511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagacccatgttggccGtggctggaggagtgccccga	16	12	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:152187511G>A	uc001ezt.1	-	3	6670	c.6594C>T	c.(6592-6594)CAC>CAT	p.H2198H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2198	24.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGTGGCTGGAGG	0.632													A	152187511	G	A	152187511	2	1	160	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152187511	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	640756	152187511	97063110	75	86961											
KPRP	448834	broad.mit.edu	37	chr1	152733782	152733782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctggagtgaaaggggAagcaaagagtgcttattttt	13	4	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:152733782A>G	uc001fal.1	+	2	1776	c.1718A>G	c.(1717-1719)GAA>GGA	p.E573G		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	573						cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAAAGGGGAAGCAAAGAGT	0.502													G	152733782	A	G	152733782	3	3	160	1	0	0	0	0	1	0	0	0	8436	246	9	3	1720	3	KPRP	1	152733782	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	546271	152733782	96516839	76	86962											
NUP210L	91181	broad.mit.edu	37	chr1	154127427	154127427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttggccagggtcccacGcaaaaccagaaacaacaaca	8	12	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:154127427G>A	uc001fdw.2	-	1	166	c.94C>T	c.(94-96)CGT>TGT	p.R32C	NUP210L_uc010peh.1_Missense_Mutation_p.R32C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	32						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	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)			AGGGTCCCACGCAAAACCAGA	0.607													A	154127427	G	A	154127427	3	1	160	1	0	0	0	0	1	0	0	0	10761	1087	38	1	5732	1	NUP210L	1	154127427	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1393645	154127427	95123194	77	86963											
AQP10	89872	broad.mit.edu	37	chr1	154295464	154295464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgatacttgaaggggcccAcctgaatccagccttctccc	8	15	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:154295464A>G	uc001feu.2	+	3	279	c.239A>G	c.(238-240)CAC>CGC	p.H80R	AQP10_uc001fev.2_Missense_Mutation_p.H80R|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	80	Cytoplasmic (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAGGGGCCCACCTGAATCCA	0.353													G	154295464	A	G	154295464	3	3	160	1	0	0	0	0	1	0	0	0	822	159	6	3	249	3	AQP10	1	154295464	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	168037	154295464	94955157	78	86964											
PBXIP1	57326	broad.mit.edu	37	chr1	154918618	154918618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccttcctgctggctccCtgtcctcctgacctccccag	6	21	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:154918618C>T	uc001ffr.2	-	10	1591	c.1532G>A	c.(1531-1533)AGG>AAG	p.R511K	PBXIP1_uc001ffs.2_Missense_Mutation_p.R482K|PBXIP1_uc010pep.1_Missense_Mutation_p.R356K	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	511					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	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)			TGCTGGCTCCCTGTCCTCCTG	0.602													T	154918618	C	T	154918618	3	4	160	1	0	0	0	0	1	0	0	0	11496	681	24	4	671	4	PBXIP1	1	154918618	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	623154	154918618	94332003	79	86965											
DCST2	127579	broad.mit.edu	37	chr1	155005160	155005160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctatgtgtttcacaccaTccatgattgaccgaaagaac	6	11	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155005160T>C	uc001fgm.2	-	3	604	c.524A>G	c.(523-525)GAT>GGT	p.D175G	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	175	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	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)			TTTCACACCATCCATGATTGA	0.428													C	155005160	T	C	155005160	3	2	160	1	0	0	0	0	1	0	0	0	4303	1435	50	3	1849	3	DCST2	1	155005160	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	86542	155005160	94245461	80	86966											
GBA	2629	broad.mit.edu	37	chr1	155208382	155208382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgtctgcataggtgtAggtgcggatggagaagtcac	18	5	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155208382A>G	uc001fjh.2	-	5	664	c.514T>C	c.(514-516)TAC>CAC	p.Y172H	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.Y59H|GBA_uc010pfx.1_Missense_Mutation_p.Y123H|GBA_uc001fji.2_Missense_Mutation_p.Y172H|GBA_uc001fjj.2_Missense_Mutation_p.Y172H|GBA_uc001fjk.2_Missense_Mutation_p.Y172H|GBA_uc001fjl.2_Missense_Mutation_p.Y172H|GBA_uc010pfy.1_Missense_Mutation_p.Y85H|GBA_uc009wqk.1_Missense_Mutation_p.Y85H	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	172					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			ovary(1)|skin(1)	2	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)	GCATAGGTGTAGGTGCGGATG	0.488									Gaucher_disease_type_I				G	155208382	A	G	155208382	3	3	160	1	0	0	0	0	1	0	0	0	6266	420	15	3	1124	3	GBA	1	155208382	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	203222	155208382	94042239	81	86967											
PKLR	5313	broad.mit.edu	37	chr1	155263028	155263028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaggcagcctccacaGcaccaatggcggtgacctca	10	14	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155263028G>A	uc001fkb.3	-	9	1415	c.1376C>T	c.(1375-1377)GCT>GTT	p.A459V	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.A428V	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	459			A -> V (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGCCTCCACAGCACCAATGGC	0.607													A	155263028	G	A	155263028	3	1	160	1	0	0	0	0	1	0	0	0	11976	971	34	2	360	2	PKLR	1	155263028	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	54646	155263028	93987593	82	86968											
GON4L	54856	broad.mit.edu	37	chr1	155736194	155736194	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctgaatgagttgatcGggctggtgttttcccagggt	15	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155736194G>A	uc001flz.2	-	21	3167	c.3070C>T	c.(3070-3072)CGA>TGA	p.R1024*	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Nonsense_Mutation_p.R1024*|GON4L_uc009wrh.1_Nonsense_Mutation_p.R1024*|GON4L_uc001fma.1_Nonsense_Mutation_p.R1024*|GON4L_uc001fmb.3_Nonsense_Mutation_p.R220*|GON4L_uc001fmc.2_Nonsense_Mutation_p.R1024*|GON4L_uc001fmd.3_Nonsense_Mutation_p.R1024*|GON4L_uc009wri.2_Nonsense_Mutation_p.R610*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1024					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTTGATCGGGCTGGTGTT	0.557													A	155736194	G	A	155736194	4	1	160	1	0	0	0	0	0	1	0	0	6572	1124	39	1	3817	1	GON4L	1	155736194	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	473166	155736194	93514427	83	86969											
GON4L	54856	broad.mit.edu	37	chr1	155823103	155823103	+	Frame_Shift_Del	DEL	A	A	-													ttcttcactaggctctcctgAaaaaggctcctttagggtaa							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155823102_155823102GA>G	uc001flz.2	-	1	567	c.470_470TC>C	c.(469-471)tcafs	p.S157fs	GON4L_uc001fly.1_Frame_Shift_Del_p.S157fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.S157fs|GON4L_uc001fma.1_Frame_Shift_Del_p.S157fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.S157fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.S157fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	157					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)					AGGCTCTCCTGAAAAAGGCTC	0.448													-	155823103	A	-	155823103	7	5	160	1	0	1	0	1	0	0	0	0	6572	246	9	0	6494	0	GON4L	1	155823103	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	86909	155823103	93427518	84	86970											
MEX3A	92312	broad.mit.edu	37	chr1	156046402	156046402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgcgtggctgtgatgTggcagacgggacactctggg	18	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156046402T>C	uc001fnd.3	-	2	1526	c.1526A>G	c.(1525-1527)CAC>CGC	p.H509R		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	509	RING-type.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGCTGTGATGTGGCAGACGGG	0.617													C	156046402	T	C	156046402	3	2	160	1	0	0	0	0	1	0	0	0	9509	1696	59	3	40	3	MEX3A	1	156046402	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	223299	156046402	93204219	85	86971											
SMG5	23381	broad.mit.edu	37	chr1	156233269	156233269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcagaccttcggccaTcaggacctgaagcttctcct	10	13	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156233269T>C	uc001foc.3	-	13	2097	c.1948A>G	c.(1948-1950)ATG>GTG	p.M650V	SMG5_uc009wrv.2_Missense_Mutation_p.M135V	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	650					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					CCTTCGGCCATCAGGACCTGA	0.612													C	156233269	T	C	156233269	3	2	160	1	0	0	0	0	1	0	0	0	14796	1435	50	3	1142	3	SMG5	1	156233269	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	186867	156233269	93017352	86	86972											
HAPLN2	60484	broad.mit.edu	37	chr1	156593317	156593317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctccccacactctgccGcttccttctttgggccttca	5	20	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156593317G>A	uc001fpn.1	+	3	442	c.35G>A	c.(34-36)CGC>CAC	p.R12H	HAPLN2_uc010phq.1_Missense_Mutation_p.R12H	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	12					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACACTCTGCCGCTTCCTTCTT	0.622													A	156593317	G	A	156593317	3	1	160	1	0	0	0	0	1	0	0	0	6955	1087	38	1	37	1	HAPLN2	1	156593317	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	360048	156593317	92657304	87	86973											
BCAN	63827	broad.mit.edu	37	chr1	156616930	156616930	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgaggtccagcacggcatCgatgacagcagcgacgctgt	14	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156616930C>T	uc001fpp.2	+	3	765	c.429C>T	c.(427-429)ATC>ATT	p.I143I	BCAN_uc001fpo.2_Silent_p.I143I	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	143	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCACGGCATCGATGACAGCA	0.532													T	156616930	C	T	156616930	2	4	160	1	0	0	0	0	0	0	0	1	1345	874	31	1		1	BCAN	1	156616930	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	23613	156616930	92633691	88	86974											
FCRL5	83416	broad.mit.edu	37	chr1	157490846	157490846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcactgcgctgggcccCgaggccattgtcggcctcac	12	16	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:157490846C>T	uc001fqu.2	-	11	2634	c.2476G>A	c.(2476-2478)GGG>AGG	p.G826R	FCRL5_uc009wsm.2_Missense_Mutation_p.G826R	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	826	Extracellular (Potential).|Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTGGGCCCCGAGGCCATTG	0.567													T	157490846	C	T	157490846	3	4	160	1	0	0	0	0	1	0	0	0	5798	652	23	1	485	1	FCRL5	1	157490846	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	873916	157490846	91759775	89	86975											
IGSF9	57549	broad.mit.edu	37	chr1	159900506	159900506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggagcagacaagacgatttCgctgaagggaccactcccca	11	13	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:159900506C>T	uc001fur.2	-	14	1987	c.1789G>A	c.(1789-1791)GAA>AAA	p.E597K	IGSF9_uc001fuq.2_Missense_Mutation_p.E581K|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	597	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGACGATTTCGCTGAAGGGA	0.602													T	159900506	C	T	159900506	3	4	160	1	0	0	0	0	1	0	0	0	7605	893	31	1	1782	1	IGSF9	1	159900506	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2409660	159900506	89350115	90	86976											
ATP1A2	477	broad.mit.edu	37	chr1	160106432	160106432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacggtttcctgccatcacGgctactgggaatccgcctcg	11	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:160106432G>A	uc001fvc.2	+	19	2768	c.2636G>A	c.(2635-2637)CGG>CAG	p.R879Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R879Q|ATP1A2_uc001fvd.2_Missense_Mutation_p.R598Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	879	Extracellular (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			CTGCCATCACGGCTACTGGGA	0.577													A	160106432	G	A	160106432	3	1	160	1	0	0	0	0	1	0	0	0	1129	1116	39	1	2710	1	ATP1A2	1	160106432	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	205926	160106432	89144189	91	86977											
NHLH1	4807	broad.mit.edu	37	chr1	160340584	160340584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccactcagagactgagtcGggcttcagtgactgtggggg	15	10	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:160340584G>A	uc001fwa.2	+	2	505	c.63G>A	c.(61-63)TCG>TCA	p.S21S		NM_005598	NP_005589	Q02575	HEN1_HUMAN	nescient helix loop helix 1	21					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGACTGAGTCGGGCTTCAGTG	0.697													A	160340584	G	A	160340584	2	1	160	1	0	0	0	0	0	0	0	1	10403	1103	39	1		1	NHLH1	1	160340584	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	234152	160340584	88910037	92	86978											
B4GALT3	8703	broad.mit.edu	37	chr1	161144895	161144895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgaggcacaatgatgGctgttcgggagcggggctca	16	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:161144895G>A	uc001fyq.1	-	4	639	c.377C>T	c.(376-378)GCC>GTC	p.A126V	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_5'Flank|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.A126V|B4GALT3_uc001fys.1_Missense_Mutation_p.A126V|B4GALT3_uc009wud.1_Missense_Mutation_p.A126V	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	126	Lumenal (Potential).				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				0	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)	CACAATGATGGCTGTTCGGGA	0.632													A	161144895	G	A	161144895	3	1	160	1	0	0	0	0	1	0	0	0	1272	1203	42	2	824	2	B4GALT3	1	161144895	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	804311	161144895	88105726	93	86979											
HSPA6	3310	broad.mit.edu	37	chr1	161495457	161495457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccagattcatgacgtcGtcctggtggggggctccaca	14	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:161495457G>A	uc001gap.2	+	2	1669	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	HSPA6_uc001gaq.2_Missense_Mutation_p.V337I	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	337					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATGACGTCGTCCTGGTGGG	0.597													A	161495457	G	A	161495457	3	1	160	1	0	0	0	0	1	0	0	0	7415	1145	40	1	1011	1	HSPA6	1	161495457	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	350562	161495457	87755164	94	86980											
FCRLA	84824	broad.mit.edu	37	chr1	161681172	161681172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaccgtggtacaaaaggCagacagcgggcactaccact	10	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:161681172C>A	uc001gbe.2	+	4	718	c.476C>A	c.(475-477)GCA>GAA	p.A159E	FCRLA_uc001gbd.2_Missense_Mutation_p.A153E|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	136	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GTACAAAAGGCAGACAGCGGG	0.577													A	161681172	C	A	161681172	3	1	160	1	0	0	0	0	1	0	0	0	5800	710	25	5	490	5	FCRLA	1	161681172	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	185715	161681172	87569449	95	86981											
F5	2153	broad.mit.edu	37	chr1	169510827	169510828	+	Frame_Shift_Ins	INS	-	-	G													acatttgacttatatctgtgINSgggaaggacttgtgacttcg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:169510826_169510827T>TG	uc001ggg.1	-	12	3646_3647	c.3501_3502A>CA	c.(3499-3504)cccacafs	p.P1167fs		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1167	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P1167T(1)		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)	CTTATATCTGTGGGGAAGGACT	0.5													G	169510828	-	G	169510827	7	5	160	1	0	1	1	0	0	0	0	0	5348	1335	47	0	3225	0	F5	1	169510827	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	7829655	169510827	79739794	96	86982											
C1orf49	84066	broad.mit.edu	37	chr1	178489957	178489957	+	Frame_Shift_Del	DEL	A	A	-													caagaagacgatggcaccacAaaaaacaaaacagggctcac							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:178489956_178489956CA>C	uc001glt.2	+	6	602	c.490_490CA>C	c.(490-492)caafs	p.Q164fs	C1orf49_uc021pfd.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc001glu.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc021pfe.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc001glw.2_Frame_Shift_Del_p.Q172fs|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	164						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						GATGGCACCACAAAAAACAAA	0.552													-	178489957	A	-	178489957	7	5	160	1	0	1	0	1	0	0	0	0	2041	130	5	0	541	0	C1orf49	1	178489957	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	8979130	178489957	70760664	97	86983											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815697	179815697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtggctcaggcacttcaGggtctctcttccctcccgag	11	14	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:179815697G>T	uc001gnk.2	-	6	1310	c.922C>A	c.(922-924)CTG>ATG	p.L308M	TOR1AIP2_uc001gnl.2_Missense_Mutation_p.L308M	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	308						endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1						AGGCACTTCAGGGTCTCTCTT	0.547													T	179815697	G	T	179815697	3	4	160	1	0	0	0	0	1	0	0	0	16370	991	35	5	494	5	TOR1AIP2	1	179815697	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1325740	179815697	69434924	98	86984											
PRG4	10216	broad.mit.edu	37	chr1	186269238	186269238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagatttatcaagctgtgCagggagatgtggggaagggt	16	3	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:186269238C>T	uc001gru.3	+	3	143	c.92C>T	c.(91-93)GCA>GTA	p.A31V	PRG4_uc001grt.3_Intron|PRG4_uc009wyl.2_Missense_Mutation_p.A31V|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	31	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TCAAGCTGTGCAGGGAGATGT	0.443													T	186269238	C	T	186269238	3	4	160	1	0	0	0	0	1	0	0	0	12481	710	25	2	98	2	PRG4	1	186269238	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	6453541	186269238	62981383	99	86985											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200730172	200730172	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggtctttatgtcacTgaccaggaaaaattggtaac	9	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:200730172T>C	uc001gvl.2	+	2	615	c.345T>C	c.(343-345)ACT>ACC	p.T115T	CAMSAP1L1_uc001gvk.2_Silent_p.T115T|CAMSAP1L1_uc001gvm.2_Silent_p.T115T	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	115						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTTATGTCACTGACCAGGAAA	0.423													C	200730172	T	C	200730172	2	2	160	1	0	0	0	0	0	0	0	1	2612	1567	55	3		3	CAMSAP1L1	1	200730172	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	14460934	200730172	48520449	100	86986											
NAV1	89796	broad.mit.edu	37	chr1	201778663	201778663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgttttccaagtgttcAaggtaaagggatacctgtac	10	7	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:201778663A>G	uc001gwu.2	+	21	4737	c.4390A>G	c.(4390-4392)AAG>GAG	p.K1464E	NAV1_uc001gwx.2_Missense_Mutation_p.K1073E	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1467					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCAAGTGTTCAAGGTAAAGGG	0.343													G	201778663	A	G	201778663	3	3	160	1	0	0	0	0	1	0	0	0	10183	131	5	3	4542	3	NAV1	1	201778663	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1048491	201778663	47471958	101	86987											
ADIPOR1	51094	broad.mit.edu	37	chr1	202914151	202914151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgaatgacaatagaCggtgtgaaagagccaggaga	12	6	1	6			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:202914151C>T	uc001gyq.3	-	5	844	c.577G>A	c.(577-579)GTC>ATC	p.V193I	ADIPOR1_uc010pqd.1_Missense_Mutation_p.V117I|ADIPOR1_uc001gyr.3_Intron|ADIPOR1_uc001gys.3_Missense_Mutation_p.V193I	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	193	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGACAATAGACGGTGTGAAAG	0.443													T	202914151	C	T	202914151	3	4	160	1	0	0	0	0	1	0	0	0	318	536	19	1	566	1	ADIPOR1	1	202914151	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1135488	202914151	46336470	102	86988											
ADIPOR1	51094	broad.mit.edu	37	chr1	202917467	202917467	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcttctccatggcgtGgtgggcttgcaggggaagtg	15	9	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:202917467G>C	uc001gyq.3	-	3	490	c.223C>G	c.(223-225)CAC>GAC	p.H75D	ADIPOR1_uc010pqd.1_5'UTR|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.H75D	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	75	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			TCCATGGCGTGGTGGGCTTGC	0.567													C	202917467	G	C	202917467	3	2	160	1	0	0	0	0	1	0	0	0	318	1348	47	5	928	5	ADIPOR1	1	202917467	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3316	202917467	46333154	103	86989											
CHIT1	1118	broad.mit.edu	37	chr1	203186140	203186140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgaggattgggatagagCccatcagctttgccctggca	12	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:203186140C>T	uc001gzn.2	-	11	1374	c.1278G>A	c.(1276-1278)GGG>GGA	p.G426G	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Silent_p.G188G|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.G417G	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	426	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						TGGGATAGAGCCCATCAGCTT	0.602											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	203186140	C	T	203186140	2	4	160	1	0	0	0	0	0	0	0	1	3346	726	26	2		2	CHIT1	1	203186140	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	268673	203186140	46064481	104	86990											
DSTYK	25778	broad.mit.edu	37	chr1	205128728	205128728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccataatgaggagcacagCaatgctggagccaccaccat	9	13	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:205128728C>T	uc001hbw.2	-	9	2249	c.2185G>A	c.(2185-2187)GCT>ACT	p.A729T	DSTYK_uc001hbx.2_Missense_Mutation_p.A729T	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	729	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						AGGAGCACAGCAATGCTGGAG	0.542													T	205128728	C	T	205128728	3	4	160	1	0	0	0	0	1	0	0	0	4785	710	25	2	624	2	DSTYK	1	205128728	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1942588	205128728	44121893	105	86991											
LEMD1	93273	broad.mit.edu	37	chr1	205350918	205350918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatagtctggtcttccgcGcagtagtctctctctttggt	10	11	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:205350918G>A	uc001hcj.1	-	6	516	c.414C>T	c.(412-414)TGC>TGT	p.C138C	LEMD1_uc001hci.1_Missense_Mutation_p.A91V|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Silent_p.C97C|LEMD1_uc001hcm.1_RNA|LEMD1_uc001hcn.1_RNA|uc001hch.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	138						integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			GGTCTTCCGCGCAGTAGTCTC	0.488													A	205350918	G	A	205350918	2	1	160	1	0	0	0	0	0	0	0	1	8719	1087	38	1		1	LEMD1	1	205350918	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	222190	205350918	43899703	106	86992											
CR1L	1379	broad.mit.edu	37	chr1	207850873	207850873	+	Frame_Shift_Del	DEL	A	A	-													ccgttttctatcatctgcctAaaaaactcagtctggacaag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:207850872_207850872TA>T	uc001hga.4	+	1	357	c.236_236TA>T	c.(235-237)ctafs	p.L79fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	79	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCATCTGCCTAAAAAACTCA	0.438													-	207850873	A	-	207850873	7	5	160	1	0	1	0	1	0	0	0	0	3841	349	13	0	243	0	CR1L	1	207850873	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	2499955	207850873	41399748	107	86993											
CENPF	1063	broad.mit.edu	37	chr1	214813825	214813825	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctcagatcagaaacatcAgaaggaaatagaaaatatgt	8	5	3	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:214813825A>G	uc001hkm.2	+	12	2318	c.2144A>G	c.(2143-2145)CAG>CGG	p.Q715R		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	715	Potential.				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGAAACATCAGAAGGAAATA	0.398													G	214813825	A	G	214813825	3	3	160	1	0	0	0	0	1	0	0	0	3231	188	7	3	2186	3	CENPF	1	214813825	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	6962952	214813825	34436796	108	86994											
MOSC2	54996	broad.mit.edu	37	chr1	220953575	220953575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagccactggacacccTgaagaggtagaataccacca	9	12	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:220953575T>C	uc001hmq.2	+	6	1076	c.878T>C	c.(877-879)CTG>CCG	p.L293P	MOSC2_uc001hmr.2_Missense_Mutation_p.L293P|MOSC2_uc009xdx.2_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	293	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		CTGGACACCCTGAAGAGGTAG	0.448													C	220953575	T	C	220953575	3	2	160	1	0	0	0	0	1	0	0	0	9714	1580	55	3	900	3	MOSC2	1	220953575	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	6139750	220953575	28297046	109	86995											
DISP1	84976	broad.mit.edu	37	chr1	223177842	223177842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgggctgggagctcAatgtgttggaatctgtcacc	13	10	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:223177842A>G	uc001hnu.1	+	8	3250	c.3103A>G	c.(3103-3105)AAT>GAT	p.N1035D		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1035					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CTGGGAGCTCAATGTGTTGGA	0.498													G	223177842	A	G	223177842	3	3	160	1	0	0	0	0	1	0	0	0	4539	130	5	3	3129	3	DISP1	1	223177842	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2224267	223177842	26072779	110	86996											
DISP1	84976	broad.mit.edu	37	chr1	223177922	223177922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatggggttgcctaccgCttggctccagatcccgaccg	11	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:223177922C>T	uc001hnu.1	+	8	3330	c.3183C>T	c.(3181-3183)CGC>CGT	p.R1061R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1061					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTGCCTACCGCTTGGCTCCAG	0.587													T	223177922	C	T	223177922	2	4	160	1	0	0	0	0	0	0	0	1	4539	784	28	2		2	DISP1	1	223177922	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	80	223177922	26072699	111	86997											
PARP1	142	broad.mit.edu	37	chr1	226568810	226568810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccttgttggccgtccccGtcaacttccccccgagtttc	8	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:226568810G>A	uc001hqd.3	-	9	1430	c.1259C>T	c.(1258-1260)ACG>ATG	p.T420M		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	420	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			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCCGTCCCCGTCAACTTCCC	0.478								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					A	226568810	G	A	226568810	3	1	160	1	0	0	0	0	1	0	0	0	11454	1145	40	1	1845	1	PARP1	1	226568810	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3390888	226568810	22681811	112	86998											
ITPKB	3707	broad.mit.edu	37	chr1	226924476	226924476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattcctttcttcacctgCgaggagcataggctgggccc	12	13	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:226924476C>T	uc010pvo.1	-	2	1024	c.684G>A	c.(682-684)TCG>TCA	p.S228S	ITPKB_uc001hqh.2_Silent_p.S228S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	228							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				TCTTCACCTGCGAGGAGCATA	0.607													T	226924476	C	T	226924476	2	4	160	1	0	0	0	0	0	0	0	1	7918	755	27	1		1	ITPKB	1	226924476	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	355666	226924476	22326145	113	86999											
CABC1	56997	broad.mit.edu	37	chr1	227152742	227152742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttgctgagaacttcggCggcccagaaggggagttcca	13	9	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:227152742C>T	uc001hqm.1	+	8	3638	c.219C>T	c.(217-219)GGC>GGT	p.G73G	CABC1_uc010pvp.1_Silent_p.G36G|CABC1_uc001hqn.1_Silent_p.G73G|CABC1_uc009xeq.1_Silent_p.G21G|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	73					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				AGAACTTCGGCGGCCCAGAAG	0.597													T	227152742	C	T	227152742	2	4	160	1	0	0	0	0	0	0	0	1	2527	755	27	1		1	CABC1	1	227152742	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	228266	227152742	22097879	114	87000											
WNT9A	7483	broad.mit.edu	37	chr1	228111954	228111954	+	Frame_Shift_Del	DEL	C	C	-													acttaaggttgtctccgcagCccccccactgccaggcctca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:228111953_228111953GC>G	uc001hri.2	-	2	589	c.501_501GC>C	c.(499-501)ggcfs	p.G167fs		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	167					Wnt receptor signaling pathway, calcium modulating pathway|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	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.G167fs*38(1)|p.C168fs*6(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)				TGTCTCCGCAGCCCCCCCACT	0.632													-	228111954	C	-	228111954	7	5	160	1	0	1	0	1	0	0	0	0	17395	739	26	0	605	0	WNT9A	1	228111954	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	959212	228111954	21138667	115	87001											
OBSCN	84033	broad.mit.edu	37	chr1	228470812	228470812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctgtcacgggcgggaaCgcccgtgcactggctgaagg	17	11	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:228470812C>T	uc009xez.1	+	32	8608	c.8564C>T	c.(8563-8565)ACG>ATG	p.T2855M	OBSCN_uc001hsn.2_Missense_Mutation_p.T2855M|OBSCN_uc001hsp.1_Missense_Mutation_p.T554M|OBSCN_uc001hsq.1_Missense_Mutation_p.T111M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2855	Ig-like 28.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGGGCGGGAACGCCCGTGCAC	0.662													T	228470812	C	T	228470812	3	4	160	1	0	0	0	0	1	0	0	0	10812	536	19	1	8686	1	OBSCN	1	228470812	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	358858	228470812	20779809	116	87002											
URB2	9816	broad.mit.edu	37	chr1	229787056	229787056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttatgcgggaagggcgGcagaaggacaaaggtaattt	15	5	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:229787056G>A	uc001hts.1	+	8	4360	c.4224G>A	c.(4222-4224)CGG>CGA	p.R1408R	URB2_uc009xfd.1_Silent_p.R1408R	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1408						nucleolus				central_nervous_system(2)|ovary(1)	3						GGGAAGGGCGGCAGAAGGACA	0.388													A	229787056	G	A	229787056	2	1	160	1	0	0	0	0	0	0	0	1	17022	1190	42	2		2	URB2	1	229787056	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1316244	229787056	19463565	117	87003											
C1orf124	83932	broad.mit.edu	37	chr1	231474173	231474173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcggcttcaggaggagtGgaacttgcaggaggcggagc	18	8	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:231474173G>T	uc001hur.2	+	1	492	c.44G>T	c.(43-45)TGG>TTG	p.W15L	EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Missense_Mutation_p.W15L|C1orf124_uc001hut.2_Missense_Mutation_p.W15L	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	15					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAGGAGGAGTGGAACTTGCAG	0.642													T	231474173	G	T	231474173	3	4	160	1	0	0	0	0	1	0	0	0	1992	1357	47	5	46	5	C1orf124	1	231474173	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1687117	231474173	17776448	118	87004											
PCNXL2	80003	broad.mit.edu	37	chr1	233397843	233397843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccctctggagctgcagCggaggggaggcgtggagagg	20	8	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:233397843C>T	uc001hvl.2	-	3	663	c.428G>A	c.(427-429)CGC>CAC	p.R143H	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	143						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAGCTGCAGCGGAGGGGAGG	0.488													T	233397843	C	T	233397843	3	4	160	1	0	0	0	0	1	0	0	0	11592	768	27	1	6113	1	PCNXL2	1	233397843	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1923670	233397843	15852778	119	87005											
SLC35F3	148641	broad.mit.edu	37	chr1	234444860	234444860	+	Frame_Shift_Del	DEL	T	T	-													gttttagggaatgctgtcgaTtttttggagacaatggcttg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:234444859_234444859AT>A	uc001hvy.1	+	3	766	c.621_621AT>A	c.(619-621)cgafs	p.R207fs	SLC35F3_uc001hwa.1_Frame_Shift_Del_p.R138fs	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	138					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)			AATGCTGTCGATTTTTTGGAG	0.378													-	234444860	T	-	234444860	7	5	160	1	0	1	0	1	0	0	0	0	14590	1493	52	0	636	0	SLC35F3	1	234444860	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	1047017	234444860	14805761	120	87006											
ARID4B	51742	broad.mit.edu	37	chr1	235377281	235377281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctcttcttcttcttcCtcctcctcctcctcttctgc	1	20	7	0	rs113894806		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:235377281C>T	uc001hwq.2	-	17	2142	c.1644G>A	c.(1642-1644)GAG>GAA	p.E548E	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.E229E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	548	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	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)			cttcttcttcctcctcctcct	0.249													T	235377281	C	T	235377281	2	4	160	1	0	0	0	0	0	0	0	1	920	680	24	4		4	ARID4B	1	235377281	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	932421	235377281	13873340	121	87007											
LYST	1130	broad.mit.edu	37	chr1	235866168	235866168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtctgctcacatggGccatgtggaacagctgacgg	13	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:235866168G>A	uc001hxj.2	-	45	10428	c.10253C>T	c.(10252-10254)GCC>GTC	p.A3418V	LYST_uc001hxi.2_Missense_Mutation_p.A642V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3418	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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GCTCACATGGGCCATGTGGAA	0.527									Chediak-Higashi_syndrome				A	235866168	G	A	235866168	3	1	160	1	0	0	0	0	1	0	0	0	9128	1203	42	2	1188	2	LYST	1	235866168	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	488887	235866168	13384453	122	87008											
LYST	1130	broad.mit.edu	37	chr1	235969716	235969716	+	Frame_Shift_Del	DEL	A	A	-													ctgcttctttacttacgcatAaaaaagccacacagaggaat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:235969715_235969715TA>T	uc001hxj.2	-	5	2896	c.2721_2721TA>A	c.(2719-2721)ttafs	p.L907fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Frame_Shift_Del_p.L907fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	907					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)			TACTTACGCATAAAAAAGCCA	0.433													-	235969716	A	-	235969716	7	5	160	1	0	1	0	1	0	0	0	0	9128	372	13	0	8877	0	LYST	1	235969716	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	103548	235969716	13280905	123	87009											
RYR2	6262	broad.mit.edu	37	chr1	237777706	237777706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcacctccctcaggccaCggatgcagttttcctccccc	7	19	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:237777706C>T	uc001hyl.1	+	37	5398	c.5278C>T	c.(5278-5280)CGG>TGG	p.R1760W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1760	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CCTCAGGCCACGGATGCAGTT	0.512													T	237777706	C	T	237777706	3	4	160	1	0	0	0	0	1	0	0	0	13769	527	19	1	5424	1	RYR2	1	237777706	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1807990	237777706	11472915	124	87010											
CHRM3	1131	broad.mit.edu	37	chr1	240071274	240071274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccatcacgaggccgctcAcgtaccgagccaaacgaaca	8	15	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:240071274A>G	uc001hyp.2	+	5	1302	c.523A>G	c.(523-525)ACG>GCG	p.T175A		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	175	Cytoplasmic (By similarity).				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			ovary(4)|skin(1)	5	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)	GAGGCCGCTCACGTACCGAGC	0.512													G	240071274	A	G	240071274	3	3	160	1	0	0	0	0	1	0	0	0	3378	159	6	3	525	3	CHRM3	1	240071274	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2293568	240071274	9179347	125	87011											
FMN2	56776	broad.mit.edu	37	chr1	240256612	240256612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccctgcccggcagcccCgcgcctagccagcgctgttt	11	19	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:240256612C>T	uc010pyd.1	+	1	1428	c.1203C>T	c.(1201-1203)CCC>CCT	p.P401P	FMN2_uc010pye.1_Silent_p.P401P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	401					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGGCAGCCCCGCGCCTAGCC	0.706													T	240256612	C	T	240256612	2	4	160	1	0	0	0	0	0	0	0	1	5950	639	23	1		1	FMN2	1	240256612	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	185338	240256612	8994009	126	87012											
NLRP3	114548	broad.mit.edu	37	chr1	247588581	247588581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgctgaaatggatTgaagtgaaagccaaagctaa	12	6	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:247588581T>C	uc001icr.2	+	5	1974	c.1836T>C	c.(1834-1836)ATT>ATC	p.I612I	NLRP3_uc001ics.2_Silent_p.I612I|NLRP3_uc001icu.2_Silent_p.I612I|NLRP3_uc001icw.2_Silent_p.I612I|NLRP3_uc001icv.2_Silent_p.I612I|NLRP3_uc010pyw.1_Silent_p.I610I|NLRP3_uc001ict.1_Silent_p.I610I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	612					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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			TGAAATGGATTGAAGTGAAAG	0.483													C	247588581	T	C	247588581	2	2	160	1	0	0	0	0	0	0	0	1	10478	1800	63	3		3	NLRP3	1	247588581	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	7331969	247588581	1662040	127	87013											
OR2C3	81472	broad.mit.edu	37	chr1	247695193	247695194	+	Frame_Shift_Ins	INS	-	-	A													gccccagaggcaggacaacaINSaagacaaagctggccaggta							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:247695192_247695193C>CA	uc021pmb.1	-	0	621_622	c.621_622G>TG	c.(619-624)tttgttfs	p.F207fs	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Frame_Shift_Ins_p.F207fs	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	207					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)			GGCAGGACAACAAAGACAAAGC	0.54													A	247695194	-	A	247695193	7	5	160	1	0	1	1	0	0	0	0	0	10993	127	5	0	345	0	OR2C3	1	247695193	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	106612	247695193	1555428	128	87014											
OR2T34	127068	broad.mit.edu	37	chr1	248737350	248737350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggccttcctgcggccggCggcagaattcatcctgtgga	13	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:248737350C>T	uc001iep.1	-	1	709	c.709G>A	c.(709-711)GCC>ACC	p.A237T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	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)			CTGCGGCCGGCGGCAGAATTC	0.562													T	248737350	C	T	248737350	3	4	160	1	0	0	0	0	1	0	0	0	11025	768	27	1	251	1	OR2T34	1	248737350	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1042157	248737350	513271	129	87015											
SH3YL1	26751	broad.mit.edu	37	chr2	231124	231124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaatttcataaagatcttCggcttgagcaggccgcggtg	12	8	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:231124C>T	uc002qvx.2	-	7	685	c.601G>A	c.(601-603)GAA>AAA	p.E201K	SH3YL1_uc002qvy.2_Missense_Mutation_p.E201K|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.E105K|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.E105K|SH3YL1_uc002qvw.2_RNA	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1 isoform 1	201										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TAAAGATCTTCGGCTTGAGCA	0.343													T	231124	C	T	231124	3	4	160	1	0	0	0	0	1	0	0	0	14263	893	31	1	443	1	SH3YL1	2	231124	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		231124	242968249	130	87016											
SH3YL1	26751	broad.mit.edu	37	chr2	234203	234203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagttccctccgagggTcagatttccgccttttgcaa	9	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:234203T>C	uc002qvx.2	-	5	445	c.361A>G	c.(361-363)ACC>GCC	p.T121A	SH3YL1_uc002qvy.2_Missense_Mutation_p.T121A|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.T25A|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.T25A|SH3YL1_uc002qvw.2_RNA	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1 isoform 1	121										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		CCTCCGAGGGTCAGATTTCCG	0.398													C	234203	T	C	234203	3	2	160	1	0	0	0	0	1	0	0	0	14263	1667	58	3	691	3	SH3YL1	2	234203	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	3079	234203	242965170	131	87017											
TMEM18	129787	broad.mit.edu	37	chr2	669841	669841	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtcgaaatactggtatttCgaaaataatctgtttaaaaa	7	4	1	0	rs145340899		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:669841C>T	uc002qwl.2	-	4	337	c.243G>A	c.(241-243)TCG>TCA	p.S81S	TMEM18_uc002qwk.2_RNA	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	81					cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		ACTGGTATTTCGAAAATAATC	0.368													T	669841	C	T	669841	2	4	160	1	0	0	0	0	0	0	0	1	16095	871	31	1		1	TMEM18	2	669841	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	435638	669841	242529532	132	87018											
TPO	7173	broad.mit.edu	37	chr2	1491615	1491615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggacccactaatacgAggccttcttgcaagaccagc	10	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:1491615A>G	uc002qww.2	+	10	1711	c.1620A>G	c.(1618-1620)CGA>CGG	p.R540R	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Silent_p.R540R|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Silent_p.R367R|TPO_uc010yip.1_Silent_p.R540R|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	540	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	CACTAATACGAGGCCTTCTTG	0.473													G	1491615	A	G	1491615	2	3	160	1	0	0	0	0	0	0	0	1	16407	291	11	3		3	TPO	2	1491615	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	821774	1491615	241707758	133	87019											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9547005	9547005	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagtcaaaagcggtggaTaaaaccttgcaaatggcttg	11	7	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:9547005T>C	uc002qzj.2	-	7	738	c.561A>G	c.(559-561)TTA>TTG	p.L187L	ITGB1BP1_uc002qzk.2_Silent_p.L137L|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Silent_p.L143L|ITGB1BP1_uc002qzn.1_3'UTR	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	187	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AAGCGGTGGATAAAACCTTGC	0.388													C	9547005	T	C	9547005	2	2	160	1	0	0	0	0	0	0	0	1	7891	1403	49	3		3	ITGB1BP1	2	9547005	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	8055390	9547005	233652368	134	87020											
GREB1	9687	broad.mit.edu	37	chr2	11706632	11706632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccgggaaggacctgCgccttgtctccatttccaac	11	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:11706632C>T	uc002rbk.1	+	4	604	c.304C>T	c.(304-306)CGC>TGC	p.R102C	GREB1_uc002rbl.2_Missense_Mutation_p.R102C|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.R102C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	102						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAAGGACCTGCGCCTTGTCTC	0.647													T	11706632	C	T	11706632	3	4	160	1	0	0	0	0	1	0	0	0	6760	768	27	1	314	1	GREB1	2	11706632	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2159627	11706632	231492741	135	87021											
GREB1	9687	broad.mit.edu	37	chr2	11733023	11733023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccttcccgcccgcGcccagcgccgcggcacccgt	11	24	0	0	rs148777088	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:11733023G>A	uc002rbk.1	+	11	1767	c.1467G>A	c.(1465-1467)GCG>GCA	p.A489A	GREB1_uc002rbo.1_Silent_p.A123A	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	489						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCCGCCCGCGCCCAGCGCCG	0.711													A	11733023	G	A	11733023	2	1	160	1	0	0	0	0	0	0	0	1	6760	1074	38	1		1	GREB1	2	11733023	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	26391	11733023	231466350	136	87022											
NTSR2	23620	broad.mit.edu	37	chr2	11802192	11802192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaaggtcttcttccataCgatgaagctgaggagaccct	10	9	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:11802192C>T	uc002rbq.3	-	2	873	c.799G>A	c.(799-801)GTA>ATA	p.V267I		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	267	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TTCTTCCATACGATGAAGCTG	0.632													T	11802192	C	T	11802192	3	4	160	1	0	0	0	0	1	0	0	0	10711	536	19	1	445	1	NTSR2	2	11802192	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	69169	11802192	231397181	137	87023											
DNAJC27	51277	broad.mit.edu	37	chr2	25180758	25180758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcatttctgccagccacGcatcaagggcgtcaaaggag	11	12	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:25180758G>A	uc002rft.1	-	4	377	c.326C>T	c.(325-327)GCG>GTG	p.A109V	DNAJC27_uc010ykn.1_Missense_Mutation_p.A38V|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.A109V	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	109					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						TGCCAGCCACGCATCAAGGGC	0.433													A	25180758	G	A	25180758	3	1	160	1	0	0	0	0	1	0	0	0	4645	1087	38	1	511	1	DNAJC27	2	25180758	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13378566	25180758	218018615	138	87024											
KHK	3795	broad.mit.edu	37	chr2	27322109	27322109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacttggggttccagtcaGcagaggaagccttgaggggc	16	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:27322109G>A	uc002ril.2	+	6	1127	c.610G>A	c.(610-612)GCA>ACA	p.A204T	KHK_uc002rim.2_Missense_Mutation_p.A204T|KHK_uc002rin.2_Missense_Mutation_p.A205T|KHK_uc002rio.2_Missense_Mutation_p.A120T|CGREF1_uc010ylf.1_3'UTR|CGREF1_uc002rip.1_3'UTR	NM_000221	NP_000212	P50053	KHK_HUMAN	ketohexokinase isoform a	204					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCCAGTCAGCAGAGGAAGC	0.547													A	27322109	G	A	27322109	3	1	160	1	0	0	0	0	1	0	0	0	8149	971	34	2	771	2	KHK	2	27322109	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2141351	27322109	215877264	139	87025											
FOSL2	2355	broad.mit.edu	37	chr2	28627104	28627104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtccaacccataccctcGctcgcacccctacagccccc	4	23	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:28627104G>A	uc002rma.2	+	2	1042	c.233G>A	c.(232-234)CGC>CAC	p.R78H	FOSL2_uc010ymi.1_Missense_Mutation_p.R39H	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	78					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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CCATACCCTCGCTCGCACCCC	0.632													A	28627104	G	A	28627104	3	1	160	1	0	0	0	0	1	0	0	0	5988	1087	38	1	239	1	FOSL2	2	28627104	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1304995	28627104	214572269	140	87026											
YIPF4	84272	broad.mit.edu	37	chr2	32517418	32517418	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattatatggacagtttaggGtaagtatatcttattttata	7	3	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:32517418G>A	uc002rok.2	+	3	672	c.405_splice	c.e3+1	p.R135_splice		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)					ACAGTTTAGGGTAAGTATATC	0.279													A	32517418	G	A	32517418	5	1	160	1	0	0	0	0	0	0	1	0	17477	1275	44	4	416	4	YIPF4	2	32517418	Splice_Site	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3890314	32517418	210681955	141	87027											
LTBP1	4052	broad.mit.edu	37	chr2	33487839	33487839	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgagcctggtcaaccCcagctgtctccaggcatttc	8	14	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:33487839C>A	uc002ros.2	+	14	2469	c.2469C>A	c.(2467-2469)CCC>CCA	p.P823P	LTBP1_uc002rot.2_Silent_p.P497P|LTBP1_uc002rou.2_Silent_p.P497P|LTBP1_uc002rov.2_Silent_p.P444P|LTBP1_uc010ymz.1_Silent_p.P497P|LTBP1_uc010yna.1_Silent_p.P444P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	823					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGGTCAACCCCAGCTGTCTC	0.383													A	33487839	C	A	33487839	2	1	160	1	0	0	0	0	0	0	0	1	9073	610	22	5		5	LTBP1	2	33487839	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	970421	33487839	209711534	142	87028											
HEATR5B	54497	broad.mit.edu	37	chr2	37310522	37310522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgatttgagccaaagcTtcttcatttagcaataaact	7	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:37310522T>C	uc002rpp.1	-	2	132	c.36A>G	c.(34-36)GAA>GAG	p.E12E	CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	12							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GAGCCAAAGCTTCTTCATTTA	0.338													C	37310522	T	C	37310522	2	2	160	1	0	0	0	0	0	0	0	1	7032	1606	56	3		3	HEATR5B	2	37310522	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	3822683	37310522	205888851	143	87029											
THUMPD2	80745	broad.mit.edu	37	chr2	39988502	39988502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagatgccattgcccacGctattgtagatcgcagtcca	9	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:39988502G>A	uc002rru.2	-	6	897	c.860C>T	c.(859-861)GCG>GTG	p.A287V	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.A178V|THUMPD2_uc010ynu.1_3'UTR	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	287							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				CATTGCCCACGCTATTGTAGA	0.373													A	39988502	G	A	39988502	3	1	160	1	0	0	0	0	1	0	0	0	15880	1087	38	1	671	1	THUMPD2	2	39988502	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2677980	39988502	203210871	144	87030											
SLC8A1	6546	broad.mit.edu	37	chr2	40656816	40656816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtcacaaagaagacaCgcaaatgcttaatcttcctt	6	11	2	2	rs150791349		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:40656816C>T	uc002rrx.2	-	1	629	c.605G>A	c.(604-606)CGT>CAT	p.R202H	SLC8A1_uc002rry.2_Missense_Mutation_p.R202H|SLC8A1_uc002rrz.2_Missense_Mutation_p.R202H|SLC8A1_uc002rsa.2_Missense_Mutation_p.R202H|SLC8A1_uc002rsd.3_Missense_Mutation_p.R202H|SLC8A1_uc002rsb.1_Missense_Mutation_p.R202H|SLC8A1_uc010fan.1_Missense_Mutation_p.R202H|SLC8A1_uc002rsc.1_Missense_Mutation_p.R202H	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	202	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAAGAAGACACGCAAATGCTT	0.458													T	40656816	C	T	40656816	3	4	160	1	0	0	0	0	1	0	0	0	14706	536	19	1	2464	1	SLC8A1	2	40656816	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	668314	40656816	202542557	145	87031											
EML4	27436	broad.mit.edu	37	chr2	42490379	42490379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaattcagatgatagcCgtaataaattgtcgaaaata	9	4	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:42490379C>T	uc002rsi.2	+	5	836	c.574C>T	c.(574-576)CGT>TGT	p.R192C	EML4_uc010fap.2_Missense_Mutation_p.R134C	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	192					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						AGATGATAGCCGTAATAAATT	0.323			T	ALK	NSCLC								T	42490379	C	T	42490379	3	4	160	1	0	0	0	0	1	0	0	0	5099	652	23	1	592	1	EML4	2	42490379	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1833563	42490379	200708994	146	87032											
SRBD1	55133	broad.mit.edu	37	chr2	45826872	45826872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaactgtatgtggctgcgCtgcacatttctgttttgtct	10	9	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:45826872C>T	uc002rus.2	-	4	440	c.364G>A	c.(364-366)GCG>ACG	p.A122T		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	122					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGTGGCTGCGCTGCACATTTC	0.413													T	45826872	C	T	45826872	3	4	160	1	0	0	0	0	1	0	0	0	15132	797	28	2	2695	2	SRBD1	2	45826872	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3336493	45826872	197372501	147	87033											
PRKCE	5581	broad.mit.edu	37	chr2	46378289	46378289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccgacaatgaggacgAcctatttgagtccatcctcc	10	12	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:46378289A>G	uc002rut.2	+	13	2038	c.1841A>G	c.(1840-1842)GAC>GGC	p.D614G		NM_005400	NP_005391	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			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AATGAGGACGACCTATTTGAG	0.587													G	46378289	A	G	46378289	3	3	160	1	0	0	0	0	1	0	0	0	12511	275	10	3	1891	3	PRKCE	2	46378289	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	551417	46378289	196821084	148	87034											
FOXN2	3344	broad.mit.edu	37	chr2	48602066	48602066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattttccacaggtgagaaGcctcttcctcttaaaacagc	6	11	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:48602066G>T	uc002rwh.1	+	7	1095	c.780G>T	c.(778-780)AAG>AAT	p.K260N		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	260					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				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CAGGTGAGAAGCCTCTTCCTC	0.373													T	48602066	G	T	48602066	3	4	160	1	0	0	0	0	1	0	0	0	6020	962	34	5	798	5	FOXN2	2	48602066	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2223777	48602066	194597307	149	87035											
ASB3	51130	broad.mit.edu	37	chr2	53927512	53927512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcatgatttacaaattcAtatatatggttccatggtcc	6	7	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:53927512A>G	uc002rxg.1	-	8	1269	c.1134T>C	c.(1132-1134)TAT>TAC	p.Y378Y	ASB3_uc002rxh.1_Silent_p.Y305Y|ASB3_uc002rxi.3_Silent_p.Y416Y|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	378					intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTACAAATTCATATATATGGT	0.383													G	53927512	A	G	53927512	2	3	160	1	0	0	0	0	0	0	0	1	1024	224	8	3		3	ASB3	2	53927512	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	5325446	53927512	189271861	150	87036											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	160	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	239628	54167140	189032233	151	87037											
MTIF2	4528	broad.mit.edu	37	chr2	55467153	55467153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatcactcacctactgGgtgctcttccacagcacagg	9	14	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:55467153G>T	uc002ryn.2	-	15	2601	c.1864C>A	c.(1864-1866)CCA>ACA	p.P622T	MTIF2_uc010yox.1_Missense_Mutation_p.P291T|MTIF2_uc002ryo.2_Missense_Mutation_p.P622T	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	622					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TCACCTACTGGGTGCTCTTCC	0.353													T	55467153	G	T	55467153	3	4	160	1	0	0	0	0	1	0	0	0	9934	1232	43	5	331	5	MTIF2	2	55467153	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1300013	55467153	187732220	152	87038											
MTIF2	4528	broad.mit.edu	37	chr2	55470699	55470699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgggctttctgatgtgCttctttgtgttcctttcgct	9	11	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:55470699C>T	uc002ryn.2	-	13	2154	c.1417G>A	c.(1417-1419)GCA>ACA	p.A473T	MTIF2_uc010yox.1_Missense_Mutation_p.A142T|MTIF2_uc002ryo.2_Missense_Mutation_p.A473T	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	473					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTCTGATGTGCTTCTTTGTGT	0.398													T	55470699	C	T	55470699	3	4	160	1	0	0	0	0	1	0	0	0	9934	797	28	2	786	2	MTIF2	2	55470699	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3546	55470699	187728674	153	87039											
BMP10	27302	broad.mit.edu	37	chr2	69092787	69092787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagccacattcggagacGgccatgccttcgtatttaaa	8	12	0	1	rs146375788		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:69092787G>A	uc002sez.1	-	2	1410	c.1251C>T	c.(1249-1251)GCC>GCT	p.A417A		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	417					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			ovary(2)	2						ATTCGGAGACGGCCATGCCTT	0.403													A	69092787	G	A	69092787	2	1	160	1	0	0	0	0	0	0	0	1	1457	1103	39	1		1	BMP10	2	69092787	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13622088	69092787	174106586	154	87040											
C2orf42	54980	broad.mit.edu	37	chr2	70402811	70402812	+	Frame_Shift_Ins	INS	-	-	T													aagggaaacttaccctgcctINSttttaacgaggaagcaacca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:70402810_70402811C>CT	uc002sgh.3	-	4	1361_1362	c.1033_1034G>AG	c.(1033-1035)aggfs	p.R345fs		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	345										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTACCCTGCCTTTTTAACGAG	0.45													T	70402812	-	T	70402811	7	5	160	1	0	1	1	0	0	0	0	0	2166	1608	56	0	715	0	C2orf42	2	70402811	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	1310024	70402811	172796562	155	87041											
ALMS1	7840	broad.mit.edu	37	chr2	73675218	73675218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggacctgtctcagttgGctgtaagttctctagaaact	10	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:73675218G>A	uc002sje.1	+	9	1675	c.1564G>A	c.(1564-1566)GCT>ACT	p.A522T	ALMS1_uc002sjf.1_Missense_Mutation_p.A479T|ALMS1_uc002sjg.2_5'UTR|ALMS1_uc002sjh.1_5'UTR	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	521					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GTCTCAGTTGGCTGTAAGTTC	0.418													A	73675218	G	A	73675218	3	1	160	1	0	0	0	0	1	0	0	0	535	1203	42	2	1591	2	ALMS1	2	73675218	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3272407	73675218	169524155	156	87042											
MOGS	7841	broad.mit.edu	37	chr2	74689115	74689115	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagtgccacccaacatcGcaggtccaggtgccgctcgg	11	17	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:74689115G>A	uc010ffj.2	-	4	1964	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	MOGS_uc010ffh.2_Nonsense_Mutation_p.R326*|MOGS_uc010yrt.1_Nonsense_Mutation_p.R482*|MOGS_uc010ffi.2_Nonsense_Mutation_p.R495*	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	601	Lumenal (Potential).				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				0						ACCCAACATCGCAGGTCCAGG	0.632													A	74689115	G	A	74689115	4	1	160	1	0	0	0	0	0	1	0	0	9697	1095	38	1	716	1	MOGS	2	74689115	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1013897	74689115	168510258	157	87043											
TLX2	3196	broad.mit.edu	37	chr2	74742968	74742968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgacgcacaggtcaaaacGtggttccagaaccgacgcac	10	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:74742968G>A	uc002smb.1	+	2	932	c.609G>A	c.(607-609)ACG>ACA	p.T203T	TLX2_uc002sma.1_Missense_Mutation_p.V74M	NM_016170	NP_057254	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	203	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGGTCAAAACGTGGTTCCAGA	0.701													A	74742968	G	A	74742968	2	1	160	1	0	0	0	0	0	0	0	1	15958	1132	40	1		1	TLX2	2	74742968	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	53853	74742968	168456405	158	87044											
C2orf3	6936	broad.mit.edu	37	chr2	75929496	75929496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtcatcttgggccctggCcaattcacgttttctgcggg	11	11	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:75929496C>T	uc002sno.2	-	3	578	c.448G>A	c.(448-450)GCC>ACC	p.A150T	C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_5'UTR|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Missense_Mutation_p.A150T	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	150					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TGGGCCCTGGCCAATTCACGT	0.453													T	75929496	C	T	75929496	3	4	160	1	0	0	0	0	1	0	0	0	2162	739	26	2	1957	2	C2orf3	2	75929496	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1186528	75929496	167269877	159	87045											
GNLY	10578	broad.mit.edu	37	chr2	85924730	85924730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtatcagtctagagttacCcagggcctcgtggccggaga	14	10	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:85924730C>T	uc002sql.3	+	4	485	c.357C>T	c.(355-357)ACC>ACT	p.T119T	GNLY_uc010fgp.2_Silent_p.T104T|GNLY_uc010ysx.1_Silent_p.T146T	NM_006433	NP_006424	P22749	GNLY_HUMAN	granulysin isoform NKG5	119	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0						CTAGAGTTACCCAGGGCCTCG	0.557													T	85924730	C	T	85924730	2	4	160	1	0	0	0	0	0	0	0	1	6539	610	22	4		4	GNLY	2	85924730	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9995234	85924730	157274643	160	87046											
REV1	51455	broad.mit.edu	37	chr2	100079006	100079006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccactaaaaattgtagatgAagtcccatccttctgcatag	6	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:100079006A>G	uc002tad.2	-	3	345	c.133T>C	c.(133-135)TCA>CCA	p.S45P	REV1_uc002tac.2_Missense_Mutation_p.S45P|REV1_uc002tae.1_Missense_Mutation_p.S24P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	45	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						ATTGTAGATGAAGTCCCATCC	0.378								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	100079006	A	G	100079006	3	3	160	1	0	0	0	0	1	0	0	0	13239	246	9	3	3706	3	REV1	2	100079006	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	14154276	100079006	143120367	161	87047											
MALL	7851	broad.mit.edu	37	chr2	110849314	110849314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtatactatgtgggtggCggctaccatggtccagacca	15	9	0	1	rs141817647		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:110849314C>T	uc002tfk.2	-	2	913	c.139G>A	c.(139-141)GCC>ACC	p.A47T	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	47	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		ATGTGGGTGGCGGCTACCATG	0.468													T	110849314	C	T	110849314	3	4	160	1	0	0	0	0	1	0	0	0	9201	768	27	1	334	1	MALL	2	110849314	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	10770308	110849314	132350059	162	87048											
FBLN7	129804	broad.mit.edu	37	chr2	112940399	112940399	+	Frame_Shift_Del	DEL	G	G	-													tgtgagctctacgggcaggaGgggcgcccccggctctgcat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:112940398_112940398AG>A	uc002tho.1	+	5	972	c.701_701AG>A	c.(700-702)gagfs	p.E234fs	FBLN7_uc010fki.1_Frame_Shift_Del_p.E188fs|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	234	EGF-like 2; calcium-binding (Potential).				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						TACGGGCAGGAGGGGCGCCCC	0.617													-	112940399	G	-	112940399	7	5	160	1	0	1	0	1	0	0	0	0	5701	991	35	0	724	0	FBLN7	2	112940399	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	2091085	112940399	130258974	163	87049											
FBLN7	129804	broad.mit.edu	37	chr2	112940452	112940452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaccccgggctcttaccGttgcacctgccccggtggat	11	16	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:112940452G>A	uc002tho.1	+	6	1026	c.755G>A	c.(754-756)CGT>CAT	p.R252H	FBLN7_uc002thn.2_Missense_Mutation_p.R252H|FBLN7_uc010fki.1_Missense_Mutation_p.R206H|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	252	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						GGCTCTTACCGTTGCACCTGC	0.642													A	112940452	G	A	112940452	3	1	160	1	0	0	0	0	1	0	0	0	5701	1145	40	1	777	1	FBLN7	2	112940452	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	53	112940452	130258921	164	87050											
RGPD5	84220	broad.mit.edu	37	chr2	113147664	113147664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacggcccttcttccggCccctaatatcctgagcctgt	7	18	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:113147664C>T	uc002ths.1	-	20	2935	c.2858G>A	c.(2857-2859)GGC>GAC	p.G953D	RGPD8_uc010fkk.1_Missense_Mutation_p.G813D|RGPD5_uc002tht.1_Missense_Mutation_p.G204D	NM_005054	NP_005045	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5 isoform	953					intracellular transport	cytoplasm	binding				0						CTTCTTCCGGCCCCTAATATC	0.418													T	113147664	C	T	113147664	3	4	160	1	0	0	0	0	1	0	0	0	13289	739	26	2	13469	2	RGPD5	2	113147664	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	207212	113147664	130051709	165	87051											
INSIG2	51141	broad.mit.edu	37	chr2	118854319	118854319	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctctttccacctgatgtgAttgcaagcatcttttcttct	6	12	4	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:118854319A>T	uc002tlk.2	+	2	393	c.187A>T	c.(187-189)ATT>TTT	p.I63F	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	63					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2						ACCTGATGTGATTGCAAGCAT	0.413													T	118854319	A	T	118854319	3	4	160	1	0	0	0	0	1	0	0	0	7766	333	12	5	189	5	INSIG2	2	118854319	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	5706655	118854319	124345054	166	87052											
RALB	5899	broad.mit.edu	37	chr2	121036293	121036293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggccctccacaaggtgaTcatggttggcagcggaggcg	15	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:121036293T>C	uc002tmk.2	+	2	243	c.53T>C	c.(52-54)ATC>ACC	p.I18T	RALB_uc010yys.1_Missense_Mutation_p.I40T|RALB_uc002tml.2_Missense_Mutation_p.I18T|RALB_uc002tmm.2_Intron|RALB_uc010yyt.1_RNA	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	18					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			lung(3)	3		Prostate(154;0.122)				CACAAGGTGATCATGGTTGGC	0.562													C	121036293	T	C	121036293	3	2	160	1	0	0	0	0	1	0	0	0	13011	1435	50	3	55	3	RALB	2	121036293	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2181974	121036293	122163080	167	87053											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631753	128631753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgggcttcttgaccccaCaacagcctgctgccaacttg	8	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:128631753C>T	uc002tpl.2	-	3	307	c.56G>A	c.(55-57)TGT>TAT	p.C19Y	AMMECR1L_uc002tpm.2_Missense_Mutation_p.C19Y	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	19										central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTTGACCCCACAACAGCCTGC	0.522													T	128631753	C	T	128631753	3	4	160	1	0	0	0	0	1	0	0	0	579	478	17	4	900	4	AMMECR1L	2	128631753	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	7595460	128631753	114567620	168	87054											
TUBA3E	112714	broad.mit.edu	37	chr2	130951399	130951399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacaaactggatagtgCgcttggtcttgatggtggcg	13	8	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:130951399C>T	uc002tqv.2	-	4	1117	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	339					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					CTGGATAGTGCGCTTGGTCTT	0.547													T	130951399	C	T	130951399	3	4	160	1	0	0	0	0	1	0	0	0	16745	768	27	1	344	1	TUBA3E	2	130951399	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2319646	130951399	112247974	169	87055											
NCKAP5	344148	broad.mit.edu	37	chr2	133540780	133540780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatttctttcacccgctgTgatctccatgcttgctggat	7	13	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:133540780T>C	uc002ttp.2	-	14	3978	c.3604A>G	c.(3604-3606)ACA>GCA	p.T1202A	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1202							protein binding				0						TCACCCGCTGTGATCTCCATG	0.478													C	133540780	T	C	133540780	3	2	160	1	0	0	0	0	1	0	0	0	10223	1696	59	3	2153	3	NCKAP5	2	133540780	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2589381	133540780	109658593	170	87056											
NCKAP5	344148	broad.mit.edu	37	chr2	133541060	133541060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgagatgatggtgactcAtttacccctaagaaggaagg	11	8	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:133541060A>G	uc002ttp.2	-	14	3698	c.3324T>C	c.(3322-3324)AAT>AAC	p.N1108N	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1108	Ser-rich.						protein binding				0						ATGGTGACTCATTTACCCCTA	0.493													G	133541060	A	G	133541060	2	3	160	1	0	0	0	0	0	0	0	1	10223	214	8	3		3	NCKAP5	2	133541060	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	280	133541060	109658313	171	87057											
NCKAP5	344148	broad.mit.edu	37	chr2	133542959	133542959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatcgtccgcatcaacGtgggaatctagatcataaac	10	10	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:133542959G>A	uc002ttp.2	-	14	1799	c.1425C>T	c.(1423-1425)CAC>CAT	p.H475H	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	475							protein binding				0						CCGCATCAACGTGGGAATCTA	0.517													A	133542959	G	A	133542959	2	1	160	1	0	0	0	0	0	0	0	1	10223	1136	40	1		1	NCKAP5	2	133542959	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1899	133542959	109656414	172	87058											
R3HDM1	23518	broad.mit.edu	37	chr2	136399316	136399316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgcttcccttggaagCggcaggcataccacctggca	10	13	0	0	rs147536237		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:136399316C>T	uc002tuo.2	+	15	1800	c.1430C>T	c.(1429-1431)GCG>GTG	p.A477V	R3HDM1_uc010fni.2_Missense_Mutation_p.A475V|R3HDM1_uc002tup.2_Missense_Mutation_p.A421V|R3HDM1_uc010zbh.1_Intron	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	477							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCCTTGGAAGCGGCAGGCATA	0.433													T	136399316	C	T	136399316	3	4	160	1	0	0	0	0	1	0	0	0	12887	768	27	1	1480	1	R3HDM1	2	136399316	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2856357	136399316	106800057	173	87059											
LRP1B	53353	broad.mit.edu	37	chr2	141232708	141232708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatgttactggaccaaccTttgtgtctatgagatccatc	7	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:141232708T>G	uc002tvj.1	-	60	10596	c.9624A>C	c.(9622-9624)AAA>AAC	p.K3208N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3208	Extracellular (Potential).|LDL-receptor class B 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TGGACCAACCTTTGTGTCTAT	0.294										TSP Lung(27;0.18)			G	141232708	T	G	141232708	3	3	160	1	0	0	0	0	1	0	0	0	8955	1623	56	5	4303	5	LRP1B	2	141232708	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4833392	141232708	101966665	174	87060											
ACVR2A	92	broad.mit.edu	37	chr2	148684693	148684693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaagaatgttgggatcaCgacgcagaagccaggttatc	12	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:148684693C>T	uc002twg.2	+	12	1661	c.1392C>T	c.(1390-1392)CAC>CAT	p.H464H	ACVR2A_uc010zbn.1_Silent_p.H356H|ACVR2A_uc002twh.2_Silent_p.H464H	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	464	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTTGGGATCACGACGCAGAAG	0.408													T	148684693	C	T	148684693	2	4	160	1	0	0	0	0	0	0	0	1	223	535	19	1		1	ACVR2A	2	148684693	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	7451985	148684693	94514680	175	87061											
MBD5	55777	broad.mit.edu	37	chr2	149216410	149216410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgggttggcagcgtcGtgtggatcaaaatggagtgc	16	7	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:149216410G>A	uc002twm.3	+	6	1071	c.83G>A	c.(82-84)CGT>CAT	p.R28H	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.R28H	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	28	MBD.					chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGCAGCGTCGTGTGGATCAA	0.468													A	149216410	G	A	149216410	3	1	160	1	0	0	0	0	1	0	0	0	9347	1145	40	1	85	1	MBD5	2	149216410	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	531717	149216410	93982963	176	87062											
EVX2	344191	broad.mit.edu	37	chr2	176948411	176948411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagcacagcattgccagCcgagttggacaaattggaga	12	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:176948411C>T	uc010zeu.1	-	1	280	c.94G>A	c.(94-96)GCT>ACT	p.A32T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCATTGCCAGCCGAGTTGGAC	0.577													T	176948411	C	T	176948411	3	4	160	1	0	0	0	0	1	0	0	0	5295	739	26	2	1346	2	EVX2	2	176948411	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	27732001	176948411	66250962	177	87063											
HOXD3	3232	broad.mit.edu	37	chr2	177036309	177036309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggtacgcacggcatacacGagcgcgcagctggtggaatt	15	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:177036309G>A	uc002ukt.1	+	3	782	c.606G>A	c.(604-606)ACG>ACA	p.T202T		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	202	Homeobox.				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				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGCATACACGAGCGCGCAGC	0.637													A	177036309	G	A	177036309	2	1	160	1	0	0	0	0	0	0	0	1	7323	1045	37	1		1	HOXD3	2	177036309	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	87898	177036309	66163064	178	87064											
TTN	7273	broad.mit.edu	37	chr2	179419291	179419291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgataattttggtggTtgtaatgatgcactcttcca	8	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179419291T>C	uc010zfg.1	-	281	81303	c.81079A>G	c.(81079-81081)ACC>GCC	p.T27027A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T20722A|TTN_uc010zfi.1_Missense_Mutation_p.T20655A|TTN_uc010zfj.1_Missense_Mutation_p.T20530A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27954							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTGGTGGTTGTAATGATG	0.448													C	179419291	T	C	179419291	3	2	160	1	0	0	0	0	1	0	0	0	16732	1725	60	3	19320	3	TTN	2	179419291	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2382982	179419291	63780082	179	87065											
TTN	7273	broad.mit.edu	37	chr2	179458930	179458930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcttcaccaactcgaatcGtgagcttatctctgaagtcg	8	11	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179458930G>A	uc010zfg.1	-	246	50710	c.50486C>T	c.(50485-50487)ACG>ATG	p.T16829M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T10524M|TTN_uc010zfi.1_Missense_Mutation_p.T10457M|TTN_uc010zfj.1_Missense_Mutation_p.T10332M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17756							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCGAATCGTGAGCTTATC	0.413													A	179458930	G	A	179458930	3	1	160	1	0	0	0	0	1	0	0	0	16732	1145	40	1	50053	1	TTN	2	179458930	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	39639	179458930	63740443	180	87066											
TTN	7273	broad.mit.edu	37	chr2	179466064	179466064	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaaacggttttctgctcGcacacggaagaaatattgct	8	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179466064G>A	uc010zfg.1	-	236	48180	c.47956C>T	c.(47956-47958)CGA>TGA	p.R15986*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R9681*|TTN_uc010zfi.1_Nonsense_Mutation_p.R9614*|TTN_uc010zfj.1_Nonsense_Mutation_p.R9489*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16913							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGCTCGCACACGGAAG	0.428													A	179466064	G	A	179466064	4	1	160	1	0	0	0	0	0	1	0	0	16732	1095	38	1	52337	1	TTN	2	179466064	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	7134	179466064	63733309	181	87067											
TTN	7273	broad.mit.edu	37	chr2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgcatcaagccaatgaCgcctggcacaattcggccag	10	15	1	1	rs149059189	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179500810C>T	uc010zfg.1	-	175	34008	c.33784G>A	c.(33784-33786)GTC>ATC	p.V11262I	TTN_uc010zfh.1_Missense_Mutation_p.V4957I|TTN_uc010zfi.1_Missense_Mutation_p.V4890I|TTN_uc010zfj.1_Missense_Mutation_p.V4765I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12189							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCAATGACGCCTGGCACA	0.512													T	179500810	C	T	179500810	3	4	160	1	0	0	0	0	1	0	0	0	16732	536	19	1	66753	1	TTN	2	179500810	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	34746	179500810	63698563	182	87068											
TTN	7273	broad.mit.edu	37	chr2	179585805	179585805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaactttcatgaagttcGctgtcatttcggaaccatga	7	10	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179585805G>A	uc010zfg.1	-	76	19433	c.19209C>T	c.(19207-19209)AGC>AGT	p.S6403S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3064S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7330							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGAAGTTCGCTGTCATTTC	0.398													A	179585805	G	A	179585805	2	1	160	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179585805	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	84995	179585805	63613568	183	87069											
TTN	7273	broad.mit.edu	37	chr2	179586853	179586853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaaagaagggagattTcttgggttctggaggatgag	16	3	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179586853T>C	uc010zfg.1	-	75	19029	c.18805A>G	c.(18805-18807)AAA>GAA	p.K6269E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K2930E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7196							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGGAGATTTCTTGGGTTCT	0.388													C	179586853	T	C	179586853	3	2	160	1	0	0	0	0	1	0	0	0	16732	1792	62	3	82132	3	TTN	2	179586853	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1048	179586853	63612520	184	87070											
NAB1	4664	broad.mit.edu	37	chr2	191554976	191554976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatttttatgtagagagcCttgggattttaaaagactac	8	6	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:191554976C>A	uc002usb.2	+	10	1953	c.1381C>A	c.(1381-1383)CTT>ATT	p.L461I	NAB1_uc010fsc.2_Missense_Mutation_p.L461I|NAB1_uc010fsd.2_Missense_Mutation_p.L460I|NAB1_uc002usc.2_Missense_Mutation_p.L460I|NAB1_uc010zgh.1_Missense_Mutation_p.L431I	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	461					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGTAGAGAGCCTTGGGATTTT	0.338													A	191554976	C	A	191554976	3	1	160	1	0	0	0	0	1	0	0	0	10131	681	24	5	1407	5	NAB1	2	191554976	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	11968123	191554976	51644397	185	87071											
SDPR	8436	broad.mit.edu	37	chr2	192700903	192700903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccagagcgctggcgaGggacgcttcggaatgaccct	13	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:192700903G>A	uc002utb.2	-	2	1354	c.1024C>T	c.(1024-1026)CTC>TTC	p.L342F		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	342						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCGCTGGCGAGGGACGCTTCG	0.562													A	192700903	G	A	192700903	3	1	160	1	0	0	0	0	1	0	0	0	13970	1000	35	4	257	4	SDPR	2	192700903	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1145927	192700903	50498470	186	87072											
PLCL1	5334	broad.mit.edu	37	chr2	198949135	198949135	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaaactaaccacccgcgtGaccgaagaggaattttgtga	10	9	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:198949135G>A	uc010fsp.2	+	2	1185	c.894G>A	c.(892-894)GTG>GTA	p.V298V	PLCL1_uc002uuv.3_Silent_p.V219V	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	298					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CCACCCGCGTGACCGAAGAGG	0.373													A	198949135	G	A	198949135	2	1	160	1	0	0	0	0	0	0	0	1	12039	1277	45	4		4	PLCL1	2	198949135	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	6248232	198949135	44250238	187	87073											
CASP8	841	broad.mit.edu	37	chr2	202131490	202131490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggaacttcagacaccagGcagggctcaaatttctgcct	10	11	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:202131490G>A	uc002uxr.1	+	3	490	c.281G>A	c.(280-282)GGC>GAC	p.G94D	CASP8_uc010ftc.1_Missense_Mutation_p.G94D|CASP8_uc002uxo.1_Missense_Mutation_p.G94D|CASP8_uc002uxp.1_Missense_Mutation_p.G94D|CASP8_uc002uxq.1_Missense_Mutation_p.G94D|CASP8_uc002uxs.1_Missense_Mutation_p.G94D|CASP8_uc002uxt.1_Missense_Mutation_p.G153D|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.G94D|CASP8_uc002uxw.1_Missense_Mutation_p.G94D|CASP8_uc002uxy.1_Missense_Mutation_p.G94D|CASP8_uc002uxx.1_Missense_Mutation_p.G94D|CASP8_uc010ftf.2_Missense_Mutation_p.G94D	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	94					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|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CAGACACCAGGCAGGGCTCAA	0.488										HNSCC(4;0.00038)			A	202131490	G	A	202131490	3	1	160	1	0	0	0	0	1	0	0	0	2677	1203	42	2	464	2	CASP8	2	202131490	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3182355	202131490	41067883	188	87074											
RAPH1	65059	broad.mit.edu	37	chr2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtagataccagatgctcGcaagagaaaataacgctttt	8	7	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:204320201G>A	uc002vad.2	-	9	1486	c.1261C>T	c.(1261-1263)CGA>TGA	p.R421*	RAPH1_uc002vae.2_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.2_Nonsense_Mutation_p.R473*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	421	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						CCAGATGCTCGCAAGAGAAAA	0.383													A	204320201	G	A	204320201	4	1	160	1	0	0	0	0	0	1	0	0	13050	1095	38	1	2522	1	RAPH1	2	204320201	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2188711	204320201	38879172	189	87075											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	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)		TGGCATCTGCACCCCCCCAGT	0.527													-	209025577	C	-	209025577	7	5	160	1	0	1	0	1	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	4705376	209025577	34173796	190	87076											
ERBB4	2066	broad.mit.edu	37	chr2	212530068	212530068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggtgcagtttggatgGcatgggtggcactcccgatc	15	10	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:212530068G>A	uc002veg.1	-	15	1949	c.1851C>T	c.(1849-1851)TGC>TGT	p.C617C	ERBB4_uc002veh.1_Silent_p.C617C|ERBB4_uc010zji.1_Silent_p.C617C|ERBB4_uc010zjj.1_Silent_p.C617C|ERBB4_uc010fut.1_Silent_p.C617C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	617	Extracellular (Potential).|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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		AGTTTGGATGGCATGGGTGGC	0.478										TSP Lung(8;0.080)			A	212530068	G	A	212530068	2	1	160	1	0	0	0	0	0	0	0	1	5209	1195	42	2		2	ERBB4	2	212530068	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3504491	212530068	30669305	191	87077											
ABCA12	26154	broad.mit.edu	37	chr2	215855743	215855743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggagttcacacccaTcatcttcatgtactgtaaga	8	11	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:215855743T>C	uc002vew.2	-	24	3527	c.3307A>G	c.(3307-3309)ATG>GTG	p.M1103V	ABCA12_uc002vev.2_Missense_Mutation_p.M785V|ABCA12_uc010zjn.1_Missense_Mutation_p.M30V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1103					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TTCACACCCATCATCTTCATG	0.368													C	215855743	T	C	215855743	3	2	160	1	0	0	0	0	1	0	0	0	30	1435	50	3	4600	3	ABCA12	2	215855743	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	3325675	215855743	27343630	192	87078											
IGFBP5	3488	broad.mit.edu	37	chr2	217542917	217542917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgggctggctttgagcTcctgcagggaagcctccatg	15	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:217542917T>G	uc002vgj.3	-	3	1379	c.605A>C	c.(604-606)GAG>GCG	p.E202A		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	202	Thyroglobulin type-1.				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				0		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)		GGCTTTGAGCTCCTGCAGGGA	0.617													G	217542917	T	G	217542917	3	3	160	1	0	0	0	0	1	0	0	0	7582	1551	54	5	221	5	IGFBP5	2	217542917	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1687174	217542917	25656456	193	87079											
TNS1	7145	broad.mit.edu	37	chr2	218712867	218712867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtgggctctttcctgCtggcgtggaggtgggcgagg	18	9	1	0	rs149540382	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:218712867C>T	uc002vgt.2	-	17	2396	c.1998G>A	c.(1996-1998)CAG>CAA	p.Q666Q	TNS1_uc002vgr.2_Silent_p.Q666Q|TNS1_uc002vgs.2_Silent_p.Q666Q|TNS1_uc010zjv.1_Silent_p.Q666Q|TNS1_uc010fvj.1_Silent_p.Q734Q|TNS1_uc010fvk.1_Silent_p.Q791Q|TNS1_uc010fvi.1_Silent_p.Q353Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	666	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		CTCTTTCCTGCTGGCGTGGAG	0.557													T	218712867	C	T	218712867	2	4	160	1	0	0	0	0	0	0	0	1	16340	796	28	2		2	TNS1	2	218712867	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1169950	218712867	24486506	194	87080											
TNS1	7145	broad.mit.edu	37	chr2	218713028	218713028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcggaacataccgctggGgtcatgggcatagtgggagg	18	7	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:218713028G>T	uc002vgt.2	-	17	2235	c.1837C>A	c.(1837-1839)CCC>ACC	p.P613T	TNS1_uc002vgr.2_Missense_Mutation_p.P613T|TNS1_uc002vgs.2_Missense_Mutation_p.P613T|TNS1_uc010zjv.1_Missense_Mutation_p.P613T|TNS1_uc010fvj.1_Missense_Mutation_p.P681T|TNS1_uc010fvk.1_Missense_Mutation_p.P738T|TNS1_uc010fvi.1_Missense_Mutation_p.P300T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	613						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		ATACCGCTGGGGTCATGGGCA	0.652													T	218713028	G	T	218713028	3	4	160	1	0	0	0	0	1	0	0	0	16340	1232	43	5	3438	5	TNS1	2	218713028	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	161	218713028	24486345	195	87081											
CXCR1	3577	broad.mit.edu	37	chr2	219029293	219029293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacagcatgacaaacagCggcacgatgaagccaaaggt	11	10	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:219029293C>T	uc002vhc.2	-	2	761	c.642G>A	c.(640-642)CCG>CCA	p.P214P		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	214	Helical; Name=5; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						TGACAAACAGCGGCACGATGA	0.527													T	219029293	C	T	219029293	2	4	160	1	0	0	0	0	0	0	0	1	4090	755	27	1		1	CXCR1	2	219029293	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	316265	219029293	24170080	196	87082											
USP37	57695	broad.mit.edu	37	chr2	219339558	219339558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcattctgtcaaatccTgagttttccaattcagactt	5	11	4	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:219339558T>C	uc002vie.2	-	20	2547	c.2094A>G	c.(2092-2094)TCA>TCG	p.S698S	USP37_uc010fvs.1_Silent_p.S698S|USP37_uc010zkf.1_Silent_p.S698S|USP37_uc002vif.2_Silent_p.S698S|USP37_uc002vig.2_Silent_p.S604S	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	698					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		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)		TGTCAAATCCTGAGTTTTCCA	0.388													C	219339558	T	C	219339558	2	2	160	1	0	0	0	0	0	0	0	1	17065	1567	55	3		3	USP37	2	219339558	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	310265	219339558	23859815	197	87083											
SPEG	10290	broad.mit.edu	37	chr2	220349218	220349218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgcagccgcgagtcgcccCtgtcgctggggctgcggctg	17	15	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:220349218C>A	uc010fwg.2	+	30	7033	c.7033C>A	c.(7033-7035)CTG>ATG	p.L2345M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2345	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		CGAGTCGCCCCTGTCGCTGGG	0.697													A	220349218	C	A	220349218	3	1	160	1	0	0	0	0	1	0	0	0	15035	680	24	5	7163	5	SPEG	2	220349218	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1009660	220349218	22850155	198	87084											
OBSL1	23363	broad.mit.edu	37	chr2	220419260	220419260	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagacacagcctgagtcGgccaggcccaggccattgag	14	12	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:220419260G>T	uc010fwk.2	-	15	4869	c.4812C>A	c.(4810-4812)GCC>GCA	p.A1604A		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1604					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		AGCCTGAGTCGGCCAGGCCCA	0.632													T	220419260	G	T	220419260	2	4	160	1	0	0	0	0	0	0	0	1	10813	1103	39	5		5	OBSL1	2	220419260	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	70042	220419260	22780113	199	87085											
SLC4A3	6508	broad.mit.edu	37	chr2	220504357	220504357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtcacccatgtcaatgcGttgacagtgatgcgtactgc	10	12	2	2	rs138004203		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:220504357G>A	uc002vmp.3	+	20	3446	c.3177G>A	c.(3175-3177)GCG>GCA	p.A1059A	SLC4A3_uc002vmo.3_Silent_p.A1086A|SLC4A3_uc010fwm.2_Silent_p.A609A	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1059	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		ATGTCAATGCGTTGACAGTGA	0.652													A	220504357	G	A	220504357	2	1	160	1	0	0	0	0	0	0	0	1	14655	1132	40	1		1	SLC4A3	2	220504357	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	85097	220504357	22695016	200	87086											
EPHA4	2043	broad.mit.edu	37	chr2	222365753	222365753	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacgggtgcagggcatagaGgcagcatcgttgtcagctct	14	9	2	1	rs145141867	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:222365753G>T	uc002vmq.2	-	4	1005	c.963C>A	c.(961-963)GCC>GCA	p.A321A	EPHA4_uc002vmr.2_Silent_p.A321A|EPHA4_uc010zlm.1_Silent_p.A262A|EPHA4_uc010zln.1_Silent_p.A321A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	321	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		AGGGCATAGAGGCAGCATCGT	0.557													T	222365753	G	T	222365753	2	4	160	1	0	0	0	0	0	0	0	1	5169	987	35	5		5	EPHA4	2	222365753	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1861396	222365753	20833620	201	87087											
COL4A4	1286	broad.mit.edu	37	chr2	227914822	227914822	+	Frame_Shift_Del	DEL	G	G	-													catcaattcctgaaaatccaGggggacctggagaacctggc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:227914821_227914821AG>A	uc021vxr.1	-	32	3278	c.3177_3177CT>T	c.(3175-3177)cctfs	p.P1059fs	COL4A4_uc021vxs.1_Frame_Shift_Del_p.P1059fs	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1059	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)		CTGAAAATCCAGGGGGACCTG	0.423													-	227914822	G	-	227914822	7	5	160	1	0	1	0	1	0	0	0	0	3693	1000	35	0	1956	0	COL4A4	2	227914822	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	5549069	227914822	15284551	202	87088											
TRIP12	9320	broad.mit.edu	37	chr2	230654380	230654380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtaaaactcttaaaagaaGgatcacatctaatgacgggt	8	6	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:230654380G>T	uc002vpw.1	-	30	4526	c.4417C>A	c.(4417-4419)CTT>ATT	p.L1473I	TRIP12_uc002vpx.1_Missense_Mutation_p.L1521I|TRIP12_uc002vpy.1_Missense_Mutation_p.L1203I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1473					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		CTTAAAAGAAGGATCACATCT	0.363													T	230654380	G	T	230654380	3	4	160	1	0	0	0	0	1	0	0	0	16553	1000	35	5	1609	5	TRIP12	2	230654380	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2739558	230654380	12544993	203	87089											
CHRND	1144	broad.mit.edu	37	chr2	233393579	233393579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctccccagttccctcAagtatacggccaaagagatc	7	15	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:233393579A>G	uc002vsw.2	+	6	521	c.517A>G	c.(517-519)AAG>GAG	p.K173E	CHRND_uc010zmg.1_Missense_Mutation_p.K158E|CHRND_uc010fyc.2_Intron|CHRND_uc010zmh.1_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	173	Extracellular (Potential).				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			ovary(1)|breast(1)|skin(1)	3		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)		CAGTTCCCTCAAGTATACGGC	0.587													G	233393579	A	G	233393579	3	3	160	1	0	0	0	0	1	0	0	0	3394	131	5	3	539	3	CHRND	2	233393579	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2739199	233393579	9805794	204	87090											
UGT1A5	54579	broad.mit.edu	37	chr2	234622039	234622039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggagctactgcataaTgaggccctgatcaggcacct	12	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:234622039T>C	uc002vuw.2	+	1	402	c.402T>C	c.(400-402)AAT>AAC	p.N134N	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.N134N	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	134					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		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)		TACTGCATAATGAGGCCCTGA	0.443													C	234622039	T	C	234622039	2	2	160	1	0	0	0	0	0	0	0	1	16945	1461	51	3		3	UGT1A5	2	234622039	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1228460	234622039	8577334	205	87091											
UGT1A5	54579	broad.mit.edu	37	chr2	234681161	234681161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaccggaaatgcttggggAaaaaagggcgagttaagaaa	14	5	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:234681161A>G	uc002vuw.2	+	5	1561	c.1561A>G	c.(1561-1563)AAA>GAA	p.K521E	UGT1A8_uc002vup.2_Missense_Mutation_p.K517E|UGT1A10_uc002vur.2_Missense_Mutation_p.K517E|UGT1A9_uc002vus.2_Missense_Mutation_p.K517E|UGT1A7_uc002vut.2_Missense_Mutation_p.K517E|UGT1A6_uc002vuu.2_Missense_Mutation_p.K252E|UGT1A6_uc002vuv.3_Missense_Mutation_p.K519E|UGT1A4_uc002vux.2_Missense_Mutation_p.K521E|UGT1A3_uc002vuy.2_Missense_Mutation_p.K521E|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.K520E	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	521					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		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)		ATGCTTGGGGAAAAAAGGGCG	0.453													G	234681161	A	G	234681161	3	3	160	1	0	0	0	0	1	0	0	0	16945	247	9	3	1579	3	UGT1A5	2	234681161	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	59122	234681161	8518212	206	87092											
GBX2	2637	broad.mit.edu	37	chr2	237074893	237074893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagacgtggtgctgcccgcGgcgccgctgctcggcggggt	19	13	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:237074893G>A	uc002vvw.1	-	2	749	c.711C>T	c.(709-711)GCC>GCT	p.A237A	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	237				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TGCTGCCCGCGGCGCCGCTGC	0.647													A	237074893	G	A	237074893	2	1	160	1	0	0	0	0	0	0	0	1	6281	1103	39	1		1	GBX2	2	237074893	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2393732	237074893	6124480	207	87093											
IQCA1	79781	broad.mit.edu	37	chr2	237246962	237246962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccccacaatcagaatccGgtcatctggtttcaggagtt	10	11	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:237246962G>A	uc002vvz.1	-	17	2202	c.2020C>T	c.(2020-2022)CGG>TGG	p.R674W	IQCA1_uc002vwb.2_Missense_Mutation_p.R682W|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R633W	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	674							ATP binding			ovary(1)	1						ATCAGAATCCGGTCATCTGGT	0.438													A	237246962	G	A	237246962	3	1	160	1	0	0	0	0	1	0	0	0	7802	1115	39	1	460	1	IQCA1	2	237246962	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	172069	237246962	5952411	208	87094											
ANKMY1	51281	broad.mit.edu	37	chr2	241439490	241439490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcgccaggaacgtctcGcgctctgctggcatcagcgt	12	15	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:241439490G>A	uc002vyz.1	-	14	2653	c.2424C>T	c.(2422-2424)CGC>CGT	p.R808R	ANKMY1_uc002vza.1_Silent_p.R584R|ANKMY1_uc010fzd.1_Silent_p.R897R|ANKMY1_uc002vzb.1_Silent_p.R569R|ANKMY1_uc002vzc.1_Silent_p.R587R|ANKMY1_uc002vzd.1_Silent_p.R631R	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	808							zinc ion binding			central_nervous_system(1)	1		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)		GGAACGTCTCGCGCTCTGCTG	0.677													A	241439490	G	A	241439490	2	1	160	1	0	0	0	0	0	0	0	1	634	1074	38	1		1	ANKMY1	2	241439490	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4192528	241439490	1759883	209	87095											
AGXT	189	broad.mit.edu	37	chr2	241808357	241808357	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatccccaaccagctcctGctggggcctggtccttccaa	8	18	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:241808357G>T	uc002waa.3	+	1	196	c.75G>T	c.(73-75)CTG>CTT	p.L25L	AGXT_uc010zoi.1_Silent_p.L25L	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	25					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				0		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)	ACCAGCTCCTGCTGGGGCCTG	0.652													T	241808357	G	T	241808357	2	4	160	1	0	0	0	0	0	0	0	1	404	1306	46	5		5	AGXT	2	241808357	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	368867	241808357	1391016	210	87096											
CHL1	10752	broad.mit.edu	37	chr3	402043	402043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccaaatcatactgctgtGtaccagtgtgaagcctcaaa	7	11	2	1	rs144449707		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:402043G>A	uc003bou.2	+	11	1465	c.1194G>A	c.(1192-1194)GTG>GTA	p.V398V	CHL1_uc003bot.2_Silent_p.V414V|CHL1_uc003bow.1_Silent_p.V398V|CHL1_uc011asi.1_Silent_p.V414V	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	398	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		ATACTGCTGTGTACCAGTGTG	0.428													A	402043	G	A	402043	2	1	160	1	0	0	0	0	0	0	0	1	3349	1364	48	4		4	CHL1	3	402043	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		402043	197620387	211	87097											
IL5RA	3568	broad.mit.edu	37	chr3	3139598	3139598	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatcaaagggcctgatagcaGagtgcttgctggagccgtta	14	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:3139598G>T	uc011ask.1	-	8	1309	c.665C>A	c.(664-666)TCT>TAT	p.S222Y	IL5RA_uc010hbq.2_Missense_Mutation_p.S222Y|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.S222Y|IL5RA_uc011asl.1_Missense_Mutation_p.S222Y|IL5RA_uc011asm.1_Missense_Mutation_p.S222Y|IL5RA_uc010hbt.2_Missense_Mutation_p.S222Y|IL5RA_uc011asn.1_Missense_Mutation_p.S222Y|IL5RA_uc010hbu.2_Missense_Mutation_p.S222Y	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	222	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCTGATAGCAGAGTGCTTGCT	0.448													T	3139598	G	T	3139598	3	4	160	1	0	0	0	0	1	0	0	0	7700	942	33	5	647	5	IL5RA	3	3139598	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2737555	3139598	194882832	212	87098											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115637	15115637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgccactgcttcctcctcCtcgtcctcttcctcgaaagg	6	19	1	0	rs139954695		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:15115637C>G	uc003bzm.1	-	14	2621	c.2007G>C	c.(2005-2007)GAG>GAC	p.E669D	ZFYVE20_uc010hek.1_Missense_Mutation_p.E669D	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	669	Poly-Glu.|Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						CTTCCTCCTCCTCGTCCTCTT	0.557													G	15115637	C	G	15115637	3	3	160	1	0	0	0	0	1	0	0	0	17663	680	24	5	351	5	ZFYVE20	3	15115637	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	11976039	15115637	182906793	213	87099											
ZFYVE20	64145	broad.mit.edu	37	chr3	15127396	15127396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgattattagtttattgActtccacaacatagtggtca	6	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:15127396A>G	uc003bzm.1	-	6	976	c.362T>C	c.(361-363)GTC>GCC	p.V121A	ZFYVE20_uc010hek.1_Missense_Mutation_p.V121A|ZFYVE20_uc011avn.1_Missense_Mutation_p.V121A	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	121	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TAGTTTATTGACTTCCACAAC	0.358													G	15127396	A	G	15127396	3	3	160	1	0	0	0	0	1	0	0	0	17663	275	10	3	2028	3	ZFYVE20	3	15127396	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	11759	15127396	182895034	214	87100											
RFTN1	23180	broad.mit.edu	37	chr3	16535299	16535299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatcttggtttccacctgAggcctcttcaaagttgaata	7	10	4	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:16535299A>G	uc003cay.2	-	2	360	c.78T>C	c.(76-78)CCT>CCC	p.P26P		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	26						plasma membrane				ovary(3)|central_nervous_system(1)	4						TTTCCACCTGAGGCCTCTTCA	0.488													G	16535299	A	G	16535299	2	3	160	1	0	0	0	0	0	0	0	1	13258	291	11	3		3	RFTN1	3	16535299	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1407903	16535299	181487131	215	87101											
KCNH8	131096	broad.mit.edu	37	chr3	19479672	19479672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttggcttcatgagttGggaaagagactggaatctcc	14	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:19479672G>A	uc003cbk.1	+	8	1389	c.1194G>A	c.(1192-1194)TTG>TTA	p.L398L	KCNH8_uc011awe.1_Silent_p.L398L|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.L29L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	398	Extracellular (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TTCATGAGTTGGGAAAGAGAC	0.443													A	19479672	G	A	19479672	2	1	160	1	0	0	0	0	0	0	0	1	8038	1339	47	4		4	KCNH8	3	19479672	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2944373	19479672	178542758	216	87102											
KAT2B	8850	broad.mit.edu	37	chr3	20181816	20181816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctaaatccacggatccCgtacacagaattttctgtca	7	11	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:20181816C>T	uc003cbq.2	+	13	2410	c.1964C>T	c.(1963-1965)CCG>CTG	p.P655L		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	655					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			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCACGGATCCCGTACACAGAA	0.418													T	20181816	C	T	20181816	3	4	160	1	0	0	0	0	1	0	0	0	7982	652	23	1	2014	1	KAT2B	3	20181816	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	702144	20181816	177840614	217	87103											
EOMES	8320	broad.mit.edu	37	chr3	27761703	27761703	+	Frame_Shift_Del	DEL	C	C	-													tgccacaggtcacccatttgCccccctggaagcgccagtgg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:27761702_27761702GC>G	uc003cdy.3	-	1	996	c.996_996GC>C	c.(994-996)ggcfs	p.G332fs	EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	332					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						TCACCCATTTGCCCCCCTGGA	0.577													-	27761703	C	-	27761703	7	5	160	1	0	1	0	1	0	0	0	0	5147	739	26	0	1085	0	EOMES	3	27761703	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	7579887	27761703	170260727	218	87104											
SCN5A	6331	broad.mit.edu	37	chr3	38601732	38601732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcaagttcaaggactcaCactggctcttgttgttcacg	10	11	5	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:38601732C>T	uc003cio.2	-	23	4345	c.4151G>A	c.(4150-4152)TGT>TAT	p.C1384Y	SCN5A_uc003cin.2_Missense_Mutation_p.C1383Y|SCN5A_uc003cil.3_Missense_Mutation_p.C1384Y|SCN5A_uc010hhi.2_Missense_Mutation_p.C1384Y|SCN5A_uc010hhk.2_Missense_Mutation_p.C1383Y|SCN5A_uc011ayr.1_Missense_Mutation_p.C1330Y|SCN5A_uc010hhj.1_Missense_Mutation_p.C994Y	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1384					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CAAGGACTCACACTGGCTCTT	0.527													T	38601732	C	T	38601732	3	4	160	1	0	0	0	0	1	0	0	0	13922	478	17	4	1923	4	SCN5A	3	38601732	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	10840029	38601732	159420698	219	87105											
CCR3	1232	broad.mit.edu	37	chr3	46307472	46307472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttggaaatgactgtgagCggagcaagcatctggacctg	13	7	1	2	rs41276535		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:46307472C>T	uc003cpg.1	+	4	1366	c.823C>T	c.(823-825)CGG>TGG	p.R275W	CCR3_uc003cpi.1_Missense_Mutation_p.R275W|CCR3_uc003cpj.1_Missense_Mutation_p.R275W|CCR3_uc003cpk.1_Missense_Mutation_p.R296W|CCR3_uc010hjb.1_Missense_Mutation_p.R293W|CCR3_uc003cpl.1_Missense_Mutation_p.R308W	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	275	Extracellular (Potential).				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				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGACTGTGAGCGGAGCAAGCA	0.483													T	46307472	C	T	46307472	3	4	160	1	0	0	0	0	1	0	0	0	2942	759	27	1	892	1	CCR3	3	46307472	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	7705740	46307472	151714958	220	87106											
MYL3	4634	broad.mit.edu	37	chr3	46902256	46902256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatccccacactgcccgtAggtgatcttcatctcacact	6	16	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:46902256A>G	uc003cql.1	-	3	310	c.217T>C	c.(217-219)TAC>CAC	p.Y73H		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	73	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CACTGCCCGTAGGTGATCTTC	0.607													G	46902256	A	G	46902256	3	3	160	1	0	0	0	0	1	0	0	0	10048	420	15	3	386	3	MYL3	3	46902256	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	594784	46902256	151120174	221	87107											
NBEAL2	23218	broad.mit.edu	37	chr3	47037020	47037020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccccctgtacagcgatggCcagggcctggcttcaccttt	10	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:47037020C>T	uc003cqp.2	+	13	1974	c.1795C>T	c.(1795-1797)CCA>TCA	p.P599S	NBEAL2_uc003cqq.1_Missense_Mutation_p.P565S|NBEAL2_uc010hjm.1_Missense_Mutation_p.P160S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	599							binding			ovary(1)	1		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)		ACAGCGATGGCCAGGGCCTGG	0.622													T	47037020	C	T	47037020	3	4	160	1	0	0	0	0	1	0	0	0	10189	739	26	2	1845	2	NBEAL2	3	47037020	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	134764	47037020	150985410	222	87108											
C3orf75	54859	broad.mit.edu	37	chr3	47545907	47545907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaaggaacacaagctgcCcacgctcccgcgccatggtc	9	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:47545907C>T	uc003crk.2	-	4	355	c.236G>A	c.(235-237)GGG>GAG	p.G79E	C3orf75_uc003crj.2_Missense_Mutation_p.G6E|C3orf75_uc011bba.1_Missense_Mutation_p.G30E|C3orf75_uc003crl.1_Missense_Mutation_p.G79E	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	79											0						CACAAGCTGCCCACGCTCCCG	0.547													T	47545907	C	T	47545907	3	4	160	1	0	0	0	0	1	0	0	0	2245	623	22	4	580	4	C3orf75	3	47545907	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	508887	47545907	150476523	223	87109											
PFKFB4	5210	broad.mit.edu	37	chr3	48559432	48559432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctacctgaggcctgtccCggtgcgtgttcacagcagcc	12	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:48559432C>T	uc003ctv.2	-	13	1354	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	PFKFB4_uc003ctw.2_Missense_Mutation_p.R255Q|PFKFB4_uc010hkc.2_Missense_Mutation_p.R411Q|PFKFB4_uc003ctx.2_Missense_Mutation_p.R403Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R439Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R435Q	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	446	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			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AGGCCTGTCCCGGTGCGTGTT	0.587													T	48559432	C	T	48559432	3	4	160	1	0	0	0	0	1	0	0	0	11763	652	23	1	80	1	PFKFB4	3	48559432	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1013525	48559432	149462998	224	87110											
COL7A1	1294	broad.mit.edu	37	chr3	48631879	48631879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagaaaggcagcaccagcCcttcgagaaagctgcggacc	12	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:48631879C>A	uc003ctz.2	-	2	189	c.188G>T	c.(187-189)GGG>GTG	p.G63V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	63	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCACCAGCCCTTCGAGAAA	0.607													A	48631879	C	A	48631879	3	1	160	1	0	0	0	0	1	0	0	0	3704	623	22	5	9114	5	COL7A1	3	48631879	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	72447	48631879	149390551	225	87111											
CELSR3	1951	broad.mit.edu	37	chr3	48698723	48698723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcaggatagggtagcCctcctccacattctcgcgaa	10	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:48698723C>A	uc003cul.2	-	1	1626	c.1345G>T	c.(1345-1347)GGC>TGC	p.G449C	CELSR3_uc003cuf.1_Missense_Mutation_p.G519C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	449	Extracellular (Potential).|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			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGGGTAGCCCTCCTCCACA	0.677													A	48698723	C	A	48698723	3	1	160	1	0	0	0	0	1	0	0	0	3223	623	22	5	8733	5	CELSR3	3	48698723	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	66844	48698723	149323707	226	87112											
NDUFAF3	25915	broad.mit.edu	37	chr3	49059586	49059586	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttggtcagccatggccacCgctctcgcgctacgtagctt	11	15	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49059586C>A	uc003cvq.2	+	1	513	c.9C>A	c.(7-9)ACC>ACA	p.T3T	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Intron|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Intron|NDUFAF3_uc003cvr.2_Intron|NDUFAF3_uc003cvs.2_5'UTR	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	3					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding				0						CCATGGCCACCGCTCTCGCGC	0.706											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49059586	C	A	49059586	2	1	160	1	0	0	0	0	0	0	0	1	10276	639	23	5		5	NDUFAF3	3	49059586	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	360863	49059586	148962844	227	87113											
USP19	10869	broad.mit.edu	37	chr3	49152674	49152674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatcaccttcaacttggaaGgctggaaggcatggtgggtg	15	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49152674G>T	uc003cwd.1	-	12	1861	c.1700C>A	c.(1699-1701)CCT>CAT	p.P567H	USP19_uc003cwa.2_Missense_Mutation_p.P375H|USP19_uc003cvz.3_Missense_Mutation_p.P670H|USP19_uc011bcg.1_Missense_Mutation_p.P658H|USP19_uc003cwb.2_Missense_Mutation_p.P653H|USP19_uc003cwc.1_Missense_Mutation_p.P325H|USP19_uc011bch.1_Missense_Mutation_p.P668H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	567	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAACTTGGAAGGCTGGAAGGC	0.612													T	49152674	G	T	49152674	3	4	160	1	0	0	0	0	1	0	0	0	17047	1000	35	5	2316	5	USP19	3	49152674	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	93088	49152674	148869756	228	87114											
LAMB2	3913	broad.mit.edu	37	chr3	49160626	49160626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagagcttgccaagtgccCgctggttggccatgtgtttg	14	10	0	1	rs146522641	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49160626C>T	uc003cwe.2	-	26	4462	c.4163G>A	c.(4162-4164)CGG>CAG	p.R1388Q	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1388	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAAGTGCCCGCTGGTTGGC	0.567													T	49160626	C	T	49160626	3	4	160	1	0	0	0	0	1	0	0	0	8611	652	23	1	1261	1	LAMB2	3	49160626	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	7952	49160626	148861804	229	87115											
KLHDC8B	200942	broad.mit.edu	37	chr3	49211691	49211691	+	Frame_Shift_Del	DEL	G	G	-													gatggtatggtgtatgctctGgggggaatgggccctgacac							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49211690_49211690TG>T	uc003cwh.3	+	2	630	c.395_395TG>T	c.(394-396)ctgfs	p.L132fs	KLHDC8B_uc003cwi.1_Frame_Shift_Del_p.L5fs	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	132						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)		GTGTATGCTCTGGGGGGAATG	0.612													-	49211691	G	-	49211691	7	5	160	1	0	1	0	1	0	0	0	0	8363	1335	47	0	402	0	KLHDC8B	3	49211691	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	51065	49211691	148810739	230	87116											
CCDC36	339834	broad.mit.edu	37	chr3	49294312	49294312	+	Frame_Shift_Del	DEL	A	A	-													caggctcatagccagcaagcAaaaacaaatcccaatccaga							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49294311_49294311CA>C	uc003cwk.2	+	9	1768	c.1381_1381CA>C	c.(1381-1383)caafs	p.Q461fs	CCDC36_uc011bck.1_Frame_Shift_Del_p.Q461fs	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	461										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGCCAGCAAGCAAAAACAAAT	0.512													-	49294312	A	-	49294312	7	5	160	1	0	1	0	1	0	0	0	0	2808	130	5	0	1408	0	CCDC36	3	49294312	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	82621	49294312	148728118	231	87117											
BSN	8927	broad.mit.edu	37	chr3	49688112	49688112	+	Frame_Shift_Del	DEL	C	C	-													gggcagcctaggagagccgaCccccctgccgccgcccacct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49688111_49688111AC>A	uc003cxe.4	+	3	1699	c.1585_1585AC>A	c.(1585-1587)accfs	p.T529fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	529					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)		AGGAGAGCCGACCCCCCTGCC	0.617													-	49688112	C	-	49688112	7	5	160	1	0	1	0	1	0	0	0	0	1530	507	18	0	1600	0	BSN	3	49688112	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	393800	49688112	148334318	232	87118											
BSN	8927	broad.mit.edu	37	chr3	49689123	49689123	+	Frame_Shift_Del	DEL	G	G	-													tggaacagctggacagtgcaGgggtgacagggccacatcca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49689122_49689122AG>A	uc003cxe.4	+	4	2247	c.2133_2133AG>A	c.(2131-2133)gcafs	p.A711fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	711					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)		TGGACAGTGCAGGGGTGACAG	0.627													-	49689123	G	-	49689123	7	5	160	1	0	1	0	1	0	0	0	0	1530	1000	35	0	2152	0	BSN	3	49689123	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	1011	49689123	148333307	233	87119											
GMPPB	29925	broad.mit.edu	37	chr3	49760036	49760036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctacacacctggatgCgctgcagcactgcagggctc	11	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49760036C>T	uc003cxk.1	-	5	779	c.554G>A	c.(553-555)CGC>CAC	p.R185H	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.R185H	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	185					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACCTGGATGCGCTGCAGCAC	0.607													T	49760036	C	T	49760036	3	4	160	1	0	0	0	0	1	0	0	0	6495	768	27	1	625	1	GMPPB	3	49760036	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	70913	49760036	148262394	234	87120											
HYAL3	8372	broad.mit.edu	37	chr3	50330720	50330720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggctcctggcaggtgGggccagcccagccccagtaa	15	15	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:50330720G>A	uc003czd.1	-	4	1484	c.1211C>T	c.(1210-1212)CCC>CTC	p.P404L	HYAL3_uc003czc.1_Missense_Mutation_p.P374L|HYAL3_uc003cze.1_Missense_Mutation_p.P155L|HYAL3_uc003czf.1_Missense_Mutation_p.P125L|HYAL3_uc003czg.1_Missense_Mutation_p.P374L|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	404	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGCAGGTGGGGCCAGCCCA	0.597													A	50330720	G	A	50330720	3	1	160	1	0	0	0	0	1	0	0	0	7465	1232	43	4	46	4	HYAL3	3	50330720	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	570684	50330720	147691710	235	87121											
HYAL1	3373	broad.mit.edu	37	chr3	50340041	50340041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtcaggagcaggtatgGcagccaggatgtcctggaat	15	7	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:50340041G>A	uc003czp.2	-	2	479	c.347C>T	c.(346-348)GCC>GTC	p.A116V	HYAL1_uc003czm.2_5'UTR|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.A116V|HYAL1_uc003czr.2_Missense_Mutation_p.A116V|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.A116V|HYAL1_uc003czt.2_Missense_Mutation_p.A116V	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	116						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	AGCAGGTATGGCAGCCAGGAT	0.622													A	50340041	G	A	50340041	3	1	160	1	0	0	0	0	1	0	0	0	7463	1203	42	2	972	2	HYAL1	3	50340041	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	9321	50340041	147682389	236	87122											
DOCK3	1795	broad.mit.edu	37	chr3	51395471	51395471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcataagaagctaaTtgatcagttccagatgatgc	9	9	2	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:51395471T>C	uc011bds.1	+	46	4870	c.4847T>C	c.(4846-4848)ATT>ACT	p.I1616T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1616	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGAAGCTAATTGATCAGTTC	0.502													C	51395471	T	C	51395471	3	2	160	1	0	0	0	0	1	0	0	0	4688	1493	52	3	5029	3	DOCK3	3	51395471	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1055430	51395471	146626959	237	87123											
NISCH	11188	broad.mit.edu	37	chr3	52522247	52522247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctactggctgttgctcacGccccagcacctcaacgtcat	7	18	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:52522247G>A	uc011beg.1	+	17	2811	c.2739G>A	c.(2737-2739)ACG>ACA	p.T913T	NISCH_uc003ded.3_Silent_p.T913T|NISCH_uc003dee.3_Silent_p.T402T|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	913					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				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)		TGTTGCTCACGCCCCAGCACC	0.647													A	52522247	G	A	52522247	2	1	160	1	0	0	0	0	0	0	0	1	10432	1074	38	1		1	NISCH	3	52522247	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1126776	52522247	145500183	238	87124											
STAB1	23166	broad.mit.edu	37	chr3	52537421	52537421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctcggtgagccccaaGgggcaggctcagtgtcactg	15	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:52537421G>A	uc003dej.2	+	8	830	c.756G>A	c.(754-756)AAG>AAA	p.K252K	STAB1_uc003dei.1_Silent_p.K252K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	252	EGF-like 4.|Extracellular (Potential).				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		TGAGCCCCAAGGGGCAGGCTC	0.642													A	52537421	G	A	52537421	2	1	160	1	0	0	0	0	0	0	0	1	15236	991	35	4		4	STAB1	3	52537421	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	15174	52537421	145485009	239	87125											
STAB1	23166	broad.mit.edu	37	chr3	52556205	52556205	+	Frame_Shift_Del	DEL	G	G	-													cctgcacagatggccaccgcGggggctgcagcgagcacgcc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:52556204_52556204CG>C	uc003dej.3	+	58	6497	c.6423_6423CG>C	c.(6421-6423)cgcfs	p.R2141fs	STAB1_uc003dek.1_Frame_Shift_Del_p.R156fs|STAB1_uc003del.3_Frame_Shift_Del_p.R28fs	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2141	EGF-like 16.				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)		ATGGCCACCGCGGGGGCTGCA	0.667													-	52556205	G	-	52556205	7	5	160	1	0	1	0	1	0	0	0	0	15236	1116	39	0	6658	0	STAB1	3	52556205	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	18784	52556205	145466225	240	87126											
ACTR8	93973	broad.mit.edu	37	chr3	53911737	53911737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttatttcccgaacagtgAtctaaaattgcaggtcgcat	7	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:53911737A>G	uc003dhd.2	-	4	506	c.447T>C	c.(445-447)GAT>GAC	p.D149D	ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_Silent_p.D38D	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	149					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				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)		CCGAACAGTGATCTAAAATTG	0.393													G	53911737	A	G	53911737	2	3	160	1	0	0	0	0	0	0	0	1	217	330	12	3		3	ACTR8	3	53911737	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1355532	53911737	144110693	241	87127											
ERC2	26059	broad.mit.edu	37	chr3	56114958	56114958	+	Frame_Shift_Del	DEL	T	T	-													gaggtcctgtagctgttttgTttttttattgaggaaagatt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:56114957_56114957GT>G	uc021wzo.1	-	5	1669	c.1529_1529AC>C	c.(1528-1530)acafs	p.T510fs	ERC2_uc003dhr.1_Frame_Shift_Del_p.T510fs|ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	510						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)		TAGCTGTTTTGTTTTTTTATT	0.388													-	56114958	T	-	56114958	7	5	160	1	0	1	0	1	0	0	0	0	5211	1725	60	0	1379	0	ERC2	3	56114958	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	2203221	56114958	141907472	242	87128											
C3orf63	23272	broad.mit.edu	37	chr3	56667826	56667826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacacactgctcctccAcctgacctgtcaacacgtca	6	18	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:56667826A>G	uc003did.3	-	17	2911	c.2810T>C	c.(2809-2811)GTG>GCG	p.V937A	C3orf63_uc003dib.3_Missense_Mutation_p.V56A|C3orf63_uc003dic.3_Missense_Mutation_p.V561A|C3orf63_uc003die.3_Missense_Mutation_p.V998A	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CTGCTCCTCCACCTGACCTGT	0.493													G	56667826	A	G	56667826	3	3	160	1	0	0	0	0	1	0	0	0	2239	159	6	3	2107	3	C3orf63	3	56667826	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	552868	56667826	141354604	243	87129											
FAM116A	201627	broad.mit.edu	37	chr3	57619023	57619023	+	Frame_Shift_Del	DEL	A	A	-													tgaaactttgtgtcagttccAaaaaatagcgtcgaagaata							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:57619022_57619022CA>C	uc003dja.3	-	14	1394	c.1323_1323TG>G	c.(1321-1323)ttgfs	p.L441fs		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	441								p.L441fs*3(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GTGTCAGTTCCAAAAAATAGC	0.333													-	57619023	A	-	57619023	7	5	160	1	0	1	0	1	0	0	0	0	5407	131	5	0	528	0	FAM116A	3	57619023	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	951197	57619023	140403407	244	87130											
FLNB	2317	broad.mit.edu	37	chr3	58107205	58107205	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcccctacacagtggaggCctcgctgccaccagatccca	10	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:58107205C>A	uc003djj.2	+	20	3266	c.3101C>A	c.(3100-3102)GCC>GAC	p.A1034D	FLNB_uc010hne.2_Missense_Mutation_p.A1034D|FLNB_uc003djk.2_Missense_Mutation_p.A1034D|FLNB_uc010hnf.2_Missense_Mutation_p.A1034D|FLNB_uc003djl.2_Missense_Mutation_p.A865D|FLNB_uc003djm.2_Missense_Mutation_p.A865D	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1034	Filamin 8.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACAGTGGAGGCCTCGCTGCCA	0.562													A	58107205	C	A	58107205	3	1	160	1	0	0	0	0	1	0	0	0	5934	739	26	5	3179	5	FLNB	3	58107205	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	488182	58107205	139915225	245	87131											
ACOX2	8309	broad.mit.edu	37	chr3	58512309	58512309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagccatgtccgccacaggcCctgcggcacatctcagctcc	9	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:58512309C>A	uc003dkl.2	-	10	1405	c.1230G>T	c.(1228-1230)AGG>AGT	p.R410S		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	410					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				0				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)		CGCCACAGGCCCTGCGGCACA	0.587													A	58512309	C	A	58512309	3	1	160	1	0	0	0	0	1	0	0	0	159	622	22	5	839	5	ACOX2	3	58512309	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	405104	58512309	139510121	246	87132											
FEZF2	55079	broad.mit.edu	37	chr3	62357249	62357249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagagcgtgctggcctGgcgaaagcctttgccgcaga	14	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:62357249G>T	uc003dlh.2	-	2	1153	c.946C>A	c.(946-948)CAG>AAG	p.Q316K	FEZF2_uc003dli.2_Missense_Mutation_p.Q316K	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	316	C2H2-type 2.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		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)		GTGCTGGCCTGGCGAAAGCCT	0.592													T	62357249	G	T	62357249	3	4	160	1	0	0	0	0	1	0	0	0	5826	1357	47	5	445	5	FEZF2	3	62357249	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3844940	62357249	135665181	247	87133											
CNTN3	5067	broad.mit.edu	37	chr3	74474046	74474046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaactccctggccttcaCgcacagacactgtactcctc	6	18	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:74474046C>T	uc003dpm.1	-	4	484	c.404G>A	c.(403-405)CGT>CAT	p.R135H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	135	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		CTGGCCTTCACGCACAGACAC	0.398													T	74474046	C	T	74474046	3	4	160	1	0	0	0	0	1	0	0	0	3642	536	19	1	2758	1	CNTN3	3	74474046	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	12116797	74474046	123548384	248	87134											
ROBO1	6091	broad.mit.edu	37	chr3	78655965	78655965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgtcattttgctgttcCtgtgcttctctgggatcacc	8	13	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:78655965C>A	uc003dqe.2	-	29	4870	c.4662G>T	c.(4660-4662)CAG>CAT	p.Q1554H	ROBO1_uc003dqb.2_Missense_Mutation_p.Q1515H|ROBO1_uc003dqc.2_Missense_Mutation_p.Q1454H|ROBO1_uc003dqd.2_Missense_Mutation_p.Q1509H|ROBO1_uc010hoh.2_Missense_Mutation_p.Q746H|ROBO1_uc011bgl.1_Missense_Mutation_p.Q1126H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1554	Cytoplasmic (Potential).				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			large_intestine(2)	2		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)		TTTGCTGTTCCTGTGCTTCTC	0.478													A	78655965	C	A	78655965	3	1	160	1	0	0	0	0	1	0	0	0	13513	680	24	5	305	5	ROBO1	3	78655965	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4181919	78655965	119366465	249	87135											
PROS1	5627	broad.mit.edu	37	chr3	93605341	93605341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgttctaattcttccaCagacacctacaattaaaaag	3	10	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:93605341C>T	uc003drb.3	-	11	1503	c.1162G>A	c.(1162-1164)GTG>ATG	p.V388M	PROS1_uc010hoo.2_Missense_Mutation_p.V257M|PROS1_uc003dqz.3_Missense_Mutation_p.V257M	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	388	Laminin G-like 1.				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			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AATTCTTCCACAGACACCTAC	0.299													T	93605341	C	T	93605341	3	4	160	1	0	0	0	0	1	0	0	0	12558	478	17	4	888	4	PROS1	3	93605341	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	14949376	93605341	104417089	250	87136											
ATP6V1A	523	broad.mit.edu	37	chr3	113503220	113503220	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcatctacatccccagaGgagtaaacgtgtctgctctt	8	11	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:113503220G>T	uc003eao.2	+	4	427	c.361G>T	c.(361-363)GGA>TGA	p.G121*	ATP6V1A_uc011bik.1_Nonsense_Mutation_p.G88*	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	121					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			ovary(2)|skin(1)	3						CATCCCCAGAGGAGTAAACGT	0.428													T	113503220	G	T	113503220	4	4	160	1	0	0	0	0	0	1	0	0	1177	1001	35	5	371	5	ATP6V1A	3	113503220	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	19897879	113503220	84519210	251	87137											
KIAA1407	57577	broad.mit.edu	37	chr3	113761605	113761605	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggcataatagtgacactTgacacagtgtttttagcatc	8	9	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:113761605T>C	uc003eax.2	-	4	507	c.360A>G	c.(358-360)TCA>TCG	p.S120S	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.S98S|KIAA1407_uc011bip.1_Silent_p.S107S	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	120										ovary(2)	2						TAGTGACACTTGACACAGTGT	0.378													C	113761605	T	C	113761605	2	2	160	1	0	0	0	0	0	0	0	1	8229	1799	63	3		3	KIAA1407	3	113761605	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	258385	113761605	84260825	252	87138											
DRD3	1814	broad.mit.edu	37	chr3	113866314	113866314	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacagcaaaggccagtacCcagacggccgtgatcatgag	12	12	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:113866314C>T	uc003ebd.2	-	5	897	c.474G>A	c.(472-474)TGG>TGA	p.W158*	DRD3_uc010hqn.1_Nonsense_Mutation_p.W158*|DRD3_uc003ebb.1_Nonsense_Mutation_p.W158*|DRD3_uc003ebc.1_Nonsense_Mutation_p.W158*	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	158	Helical; Name=4.				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			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGGCCAGTACCCAGACGGCCG	0.542													T	113866314	C	T	113866314	4	4	160	1	0	0	0	0	0	1	0	0	4758	624	22	4	744	4	DRD3	3	113866314	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	104709	113866314	84156116	253	87139											
STXBP5L	9515	broad.mit.edu	37	chr3	120976118	120976118	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccttcttcaaggagtctTtctgggagcactaacactgt	8	11	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:120976118T>G	uc003eec.3	+	17	1910	c.1770T>G	c.(1768-1770)CTT>CTG	p.L590L	STXBP5L_uc011bji.1_Silent_p.L590L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	590	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		CAAGGAGTCTTTCTGGGAGCA	0.403													G	120976118	T	G	120976118	2	3	160	1	0	0	0	0	0	0	0	1	15356	1828	64	5		5	STXBP5L	3	120976118	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	7109804	120976118	77046312	254	87140											
FBXO40	51725	broad.mit.edu	37	chr3	121345701	121345701	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccccgtgagcaggccCgagagagcttagtctccacc	12	15	2	2	rs146248987	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:121345701C>T	uc003eeg.2	+	4	2284	c.2074C>T	c.(2074-2076)CGA>TGA	p.R692*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	692					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		TGAGCAGGCCCGAGAGAGCTT	0.488													T	121345701	C	T	121345701	4	4	160	1	0	0	0	0	0	1	0	0	5749	644	23	1	2084	1	FBXO40	3	121345701	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	369583	121345701	76676729	255	87141											
ADCY5	111	broad.mit.edu	37	chr3	123010154	123010154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcggccacgtccttggGcaggatgttgtgcagcagcc	16	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:123010154G>A	uc003egh.1	-	18	3133	c.3133C>T	c.(3133-3135)CCC>TCC	p.P1045S	ADCY5_uc003egg.1_Missense_Mutation_p.P703S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1045	Cytoplasmic (Potential).				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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		ACGTCCTTGGGCAGGATGTTG	0.592													A	123010154	G	A	123010154	3	1	160	1	0	0	0	0	1	0	0	0	297	1203	42	2	668	2	ADCY5	3	123010154	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1664453	123010154	75012276	256	87142											
MYLK	4638	broad.mit.edu	37	chr3	123356957	123356957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctccacatgtctgtgGcgtagccgatgggctcatag	13	11	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:123356957G>A	uc003ego.2	-	29	5204	c.4922C>T	c.(4921-4923)GCC>GTC	p.A1641V	MYLK_uc010hrr.2_Missense_Mutation_p.A76V|MYLK_uc011bjv.1_Missense_Mutation_p.A441V|MYLK_uc011bjw.1_Missense_Mutation_p.A1641V|MYLK_uc003egp.2_Missense_Mutation_p.A1572V|MYLK_uc003egq.2_Missense_Mutation_p.A1641V|MYLK_uc003egr.2_Missense_Mutation_p.A1572V|MYLK_uc003egs.2_Missense_Mutation_p.A1465V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1641	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATGTCTGTGGCGTAGCCGAT	0.572													A	123356957	G	A	123356957	3	1	160	1	0	0	0	0	1	0	0	0	10056	1203	42	2	846	2	MYLK	3	123356957	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	346803	123356957	74665473	257	87143											
MCM2	4171	broad.mit.edu	37	chr3	127327751	127327751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccctgtctttgccactgTcatcctagccaaccacgtgg	7	16	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:127327751T>A	uc003ejp.2	+	8	1370	c.1313T>A	c.(1312-1314)GTC>GAC	p.V438D	MCM2_uc011bkm.1_Missense_Mutation_p.V308D|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.V322D	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	438					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(1)	4						TTTGCCACTGTCATCCTAGCC	0.522													A	127327751	T	A	127327751	3	1	160	1	0	0	0	0	1	0	0	0	9386	1667	58	5	1343	5	MCM2	3	127327751	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	3970794	127327751	70694679	258	87144											
GP9	2815	broad.mit.edu	37	chr3	128780678	128780678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcgccctggaaaccatGgggctgtgggtggactgcag	17	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:128780678G>T	uc003elm.2	+	3	283	c.96G>T	c.(94-96)ATG>ATT	p.M32I		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	32	Extracellular (Potential).|LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)	TGGAAACCATGGGGCTGTGGG	0.697													T	128780678	G	T	128780678	3	4	160	1	0	0	0	0	1	0	0	0	6585	1348	47	5	98	5	GP9	3	128780678	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1452927	128780678	69241752	259	87145											
PLXND1	23129	broad.mit.edu	37	chr3	129324661	129324661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgaagcccagcttgtgCtgctccttggcgccctgctt	10	16	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:129324661C>T	uc003emx.2	-	1	922	c.822G>A	c.(820-822)CAG>CAA	p.Q274Q		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	274	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CCAGCTTGTGCTGCTCCTTGG	0.677													T	129324661	C	T	129324661	2	4	160	1	0	0	0	0	0	0	0	1	12127	796	28	2		2	PLXND1	3	129324661	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	543983	129324661	68697769	260	87146											
COL6A6	131873	broad.mit.edu	37	chr3	130290188	130290188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacttttggaggtctgaaGggaatattttcagatgtgac	13	4	2	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:130290188G>A	uc010htl.2	+	6	2959	c.2928G>A	c.(2926-2928)AAG>AAA	p.K976K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	976	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GAGGTCTGAAGGGAATATTTT	0.453													A	130290188	G	A	130290188	2	1	160	1	0	0	0	0	0	0	0	1	3703	991	35	4		4	COL6A6	3	130290188	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	965527	130290188	67732242	261	87147											
PPP2R3A	5523	broad.mit.edu	37	chr3	135720391	135720391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgaaccactacagcagCgtggtgatagaccggcgttt	12	10	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:135720391C>T	uc003eqv.1	+	2	616	c.51C>T	c.(49-51)AGC>AGT	p.S17S	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	17					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						ACTACAGCAGCGTGGTGATAG	0.438													T	135720391	C	T	135720391	2	4	160	1	0	0	0	0	0	0	0	1	12388	767	27	1		1	PPP2R3A	3	135720391	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5430203	135720391	62302039	262	87148											
MSL2	55167	broad.mit.edu	37	chr3	135870603	135870603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttgctctcccgtttcaCtgtcacaggagcagatgccc	8	13	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:135870603C>T	uc003eqx.1	-	2	1853	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	MSL2_uc011bmb.1_Missense_Mutation_p.V300M	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	374					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TCCCGTTTCACTGTCACAGGA	0.438													T	135870603	C	T	135870603	3	4	160	1	0	0	0	0	1	0	0	0	9878	565	20	4	617	4	MSL2	3	135870603	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	150212	135870603	62151827	263	87149											
STAG1	10274	broad.mit.edu	37	chr3	136323166	136323167	+	Frame_Shift_Ins	INS	-	-	C													ttacctgcattgcacttttcINScccagtttcaccacctcaaa							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:136323165_136323166T>TC	uc003era.1	-	3	574_575	c.282_283A>GA	c.(280-285)gggaaafs	p.G94fs	STAG1_uc003erb.1_Frame_Shift_Ins_p.G94fs|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Frame_Shift_Ins_p.G94fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	94					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						ATTGCACTTTTCCCCAGTTTCA	0.411													C	136323167	-	C	136323166	7	5	160	1	0	1	1	0	0	0	0	0	15241	842	30	0	3618	0	STAG1	3	136323166	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	452563	136323166	61699264	264	87150											
ATR	545	broad.mit.edu	37	chr3	142242921	142242922	+	Frame_Shift_Ins	INS	-	-	C													cccaattcccctaaacattcINScccacagagcaaccgagctt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:142242920_142242921T>TC	uc003eux.4	-	21	4188_4189	c.4066_4067A>GA	c.(4066-4068)gaafs	p.E1356fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1356					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|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						CCCTAAACATTCCCCACAGAGC	0.416								Other conserved DNA damage response genes					C	142242922	-	C	142242921	7	5	160	1	0	1	1	0	0	0	0	0	1204	864	30	0	3972	0	ATR	3	142242921	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	5919755	142242921	55779509	265	87151											
PAQR9	344838	broad.mit.edu	37	chr3	142681687	142681687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccgtgctgccgaagccGtagtagctgatggacgcgta	14	12	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:142681687G>A	uc003evg.2	-	1	492	c.492C>T	c.(490-492)TAC>TAT	p.Y164Y	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	164	Helical; (Potential).					integral to membrane	receptor activity				0						TGCCGAAGCCGTAGTAGCTGA	0.612													A	142681687	G	A	142681687	2	1	160	1	0	0	0	0	0	0	0	1	11442	1140	40	1		1	PAQR9	3	142681687	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	438766	142681687	55340743	266	87152											
ZIC1	7545	broad.mit.edu	37	chr3	147128165	147128165	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgggccacgtcggctcctAttccagcgcagccttcaact	9	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:147128165A>C	uc003ewe.2	+	1	985	c.266A>C	c.(265-267)TAT>TCT	p.Y89S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	89					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			ovary(1)|central_nervous_system(1)	2						GTCGGCTCCTATTCCAGCGCA	0.692													C	147128165	A	C	147128165	3	2	160	1	0	0	0	0	1	0	0	0	17675	449	16	5	268	5	ZIC1	3	147128165	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	4446478	147128165	50894265	267	87153											
IGSF10	285313	broad.mit.edu	37	chr3	151165673	151165673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccatcagagcagatgtaCggagttgtgcacctggtggc	13	11	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:151165673C>T	uc011bod.1	-	4	2096	c.2096G>A	c.(2095-2097)CGT>CAT	p.R699H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	699					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGATGTACGGAGTTGTGC	0.498													T	151165673	C	T	151165673	3	4	160	1	0	0	0	0	1	0	0	0	7597	536	19	1	5835	1	IGSF10	3	151165673	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4037508	151165673	46856757	268	87154											
NMD3	51068	broad.mit.edu	37	chr3	160942804	160942805	+	Frame_Shift_Ins	INS	-	-	A													agtaaagtggacatcagccaINSaggtattccgaaacaagtct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:160942803_160942804C>CA	uc003feb.1	+	2	249_250	c.130_131C>CA	c.(130-132)caafs	p.Q44fs	NMD3_uc003fec.3_Frame_Shift_Ins_p.Q44fs|NMD3_uc003fed.1_Frame_Shift_Ins_p.Q44fs	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	44					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)			GGACATCAGCCAAGGTATTCCG	0.391													A	160942805	-	A	160942804	7	5	160	1	0	1	1	0	0	0	0	0	10488	130	5	0	137	0	NMD3	3	160942804	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	9777131	160942804	37079626	269	87155											
SLC7A14	57709	broad.mit.edu	37	chr3	170244705	170244705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacccgccgggggtccagCgaggtgaagaagccactcat	14	13	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:170244705C>T	uc003fgz.2	-	2	337	c.21G>A	c.(19-21)TCG>TCA	p.S7S	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	7						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			GGGGGTCCAGCGAGGTGAAGA	0.572													T	170244705	C	T	170244705	2	4	160	1	0	0	0	0	0	0	0	1	14696	755	27	1		1	SLC7A14	3	170244705	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9301901	170244705	27777725	270	87156											
ZMAT3	64393	broad.mit.edu	37	chr3	178785312	178785312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcagagttcaaggtgaCattgcagagtttgcagtaca	12	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:178785312C>T	uc003fjg.2	-	2	488	c.229G>A	c.(229-231)GTC>ATC	p.V77I	ZMAT3_uc010hxa.2_Missense_Mutation_p.V77I|ZMAT3_uc003fji.2_Missense_Mutation_p.V77I	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	77	Matrin-type 1.				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCAAGGTGACATTGCAGAGT	0.507													T	178785312	C	T	178785312	3	4	160	1	0	0	0	0	1	0	0	0	17690	478	17	4	660	4	ZMAT3	3	178785312	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	8540607	178785312	19237118	271	87157											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	160	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	166773	178952085	19070345	272	87158											
CHRD	8646	broad.mit.edu	37	chr3	184104636	184104636	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcctctctgcagagaCgaacggtgatctgtgacccg	11	13	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:184104636C>T	uc003fov.2	+	17	2446	c.2200C>T	c.(2200-2202)CGA>TGA	p.R734*	CHRD_uc003fow.2_Nonsense_Mutation_p.R364*|CHRD_uc003fox.2_Nonsense_Mutation_p.R734*|CHRD_uc003foy.2_Nonsense_Mutation_p.R364*|CHRD_uc010hyc.2_Nonsense_Mutation_p.R324*|CHRD_uc011brr.1_Nonsense_Mutation_p.R276*	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	734	VWFC 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			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCAGAGACGAACGGTGAT	0.657													T	184104636	C	T	184104636	4	4	160	1	0	0	0	0	0	1	0	0	3372	528	19	1	2266	1	CHRD	3	184104636	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5152551	184104636	13917794	273	87159											
TMEM41A	90407	broad.mit.edu	37	chr3	185212518	185212518	+	Frame_Shift_Del	DEL	A	A	-													aaagtctcaaaaacaataagAaaaaaaacaagctgtttctg					rs150885877	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:185212517_185212517GA>G	uc003fpj.2	-	3	564	c.468_468TC>C	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACA	0.443													-	185212518	A	-	185212518	7	5	160	1	0	1	0	1	0	0	0	0	16161	246	9	0	335	0	TMEM41A	3	185212518	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	1107882	185212518	12809912	274	87160											
IGF2BP2	10644	broad.mit.edu	37	chr3	185367313	185367313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtttcccaaagatccGtccctgggcctgagagagca	10	12	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:185367313G>A	uc003fpo.2	-	14	1550	c.1471C>T	c.(1471-1473)CGG>TGG	p.R491W	IGF2BP2_uc010hyi.2_Missense_Mutation_p.R434W|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R428W|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R355W|IGF2BP2_uc010hyl.2_Missense_Mutation_p.R385W|IGF2BP2_uc003fpp.2_Missense_Mutation_p.R448W|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R496W	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	491	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCAAAGATCCGTCCCTGGGCC	0.532													A	185367313	G	A	185367313	3	1	160	1	0	0	0	0	1	0	0	0	7574	1144	40	1	340	1	IGF2BP2	3	185367313	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	154795	185367313	12655117	275	87161											
RTP1	132112	broad.mit.edu	37	chr3	186915332	186915332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagaccgtggagactgcGctgccctgccctgcacctac	10	15	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:186915332G>A	uc003frg.2	+	1	59	c.29G>A	c.(28-30)CGC>CAC	p.R10H		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	10	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGGAGACTGCGCTGCCCTGCC	0.552													A	186915332	G	A	186915332	3	1	160	1	0	0	0	0	1	0	0	0	13733	1087	38	1	31	1	RTP1	3	186915332	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1548019	186915332	11107098	276	87162											
CLDN1	9076	broad.mit.edu	37	chr3	190030735	190030735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcttccaagcacttcAtacacttcatgccaacggtg	6	14	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:190030735A>G	uc003fsh.2	-	2	534	c.314T>C	c.(313-315)ATG>ACG	p.M105T		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	105	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CAAGCACTTCATACACTTCAT	0.517													G	190030735	A	G	190030735	3	3	160	1	0	0	0	0	1	0	0	0	3471	217	8	3	333	3	CLDN1	3	190030735	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	3115403	190030735	7991695	277	87163											
RNF168	165918	broad.mit.edu	37	chr3	196198765	196198765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagggagtgagcacttttGgataccttacagtgatctct	11	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:196198765G>A	uc003fwq.2	-	6	2179	c.1641C>T	c.(1639-1641)TCC>TCT	p.S547S	RNF168_uc010iah.2_Silent_p.S380S|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	547					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)		GAGCACTTTTGGATACCTTAC	0.403													A	196198765	G	A	196198765	2	1	160	1	0	0	0	0	0	0	0	1	13459	1335	47	4		4	RNF168	3	196198765	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	6168030	196198765	1823665	278	87164											
PIGG	54872	broad.mit.edu	37	chr4	524250	524251	+	Frame_Shift_Del	DEL	TA	TA	-													ttattgaagctcgttttgttTatgtctttgtccttggcatt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:524249_524250TTA>T	uc003gak.4	+	10	2422_2423	c.2286_2287TTA>T	c.(2284-2289)gtttatfs	p.V762fs	PIGG_uc003gaj.4_Frame_Shift_Del_p.V754fs|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Frame_Shift_Del_p.V629fs|PIGG_uc003gal.4_Frame_Shift_Del_p.V673fs	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	762					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						CTCGTTTTGTTTATGTCTTTGT	0.366													-	524251	TA	-	524250	7	5	160	1	0	1	0	1	0	0	0	0	11888	1754	61	0	2329	0	PIGG	4	524250	Frame_Shift_Del	DEL	TA	TCGA-CD-A4MI-01A-21D-A25D-08		524250	190630026	279	87165											
KIAA1530	57654	broad.mit.edu	37	chr4	1345607	1345607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaaagagccagccaggcGgagagggagatgcaaggcaa	16	8	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:1345607G>A	uc003gde.3	+	4	981	c.534G>A	c.(532-534)GCG>GCA	p.A178A		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	178	Potential.										0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CCAGCCAGGCGGAGAGGGAGA	0.562											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1345607	G	A	1345607	2	1	160	1	0	0	0	0	0	0	0	1	8241	1103	39	1		1	KIAA1530	4	1345607	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	821357	1345607	189808669	280	87166											
LETM1	3954	broad.mit.edu	37	chr4	1843476	1843476	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggtgatcgcctctggaGgatgtgtacacagggtggat	16	8	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:1843476G>T	uc003gdv.2	-	3	489	c.192C>A	c.(190-192)TCC>TCA	p.S64S	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Silent_p.S64S	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	64					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CGCCTCTGGAGGATGTGTACA	0.547													T	1843476	G	T	1843476	2	4	160	1	0	0	0	0	0	0	0	1	8734	987	35	5		5	LETM1	4	1843476	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	497869	1843476	189310800	281	87167											
RGS12	6002	broad.mit.edu	37	chr4	3424244	3424244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtccggactctgtgagCggcatggcatcaacggggcg	15	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:3424244C>T	uc003ggw.2	+	11	3884	c.2980C>T	c.(2980-2982)CGG>TGG	p.R994W	RGS12_uc003ggv.2_Missense_Mutation_p.R994W|RGS12_uc003ggy.1_Missense_Mutation_p.R392W|RGS12_uc003ggz.2_Missense_Mutation_p.R346W|RGS12_uc010icu.1_Missense_Mutation_p.R193W|RGS12_uc011bvs.1_Missense_Mutation_p.R336W|RGS12_uc003gha.2_Missense_Mutation_p.R336W|RGS12_uc010icv.2_Missense_Mutation_p.R193W|RGS12_uc003ghb.2_Missense_Mutation_p.R193W	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	994	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTCTGTGAGCGGCATGGCAT	0.647													T	3424244	C	T	3424244	3	4	160	1	0	0	0	0	1	0	0	0	13295	759	27	1	3076	1	RGS12	4	3424244	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1580768	3424244	187730032	282	87168											
EVC2	132884	broad.mit.edu	37	chr4	5667369	5667369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtggaggccgtggtgcGgcagaacctgtggagacaag	18	9	0	2	rs138882677		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:5667369G>T	uc003gij.2	-	8	932	c.878C>A	c.(877-879)CCG>CAG	p.P293Q	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.P213Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	293						integral to membrane				large_intestine(3)|ovary(2)	5						GCCGTGGTGCGGCAGAACCTG	0.507													T	5667369	G	T	5667369	3	4	160	1	0	0	0	0	1	0	0	0	5286	1116	39	5	3108	5	EVC2	4	5667369	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2243125	5667369	185486907	283	87169											
MAN2B2	23324	broad.mit.edu	37	chr4	6580170	6580170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgtcatcggaggccaGgtcatgcatgacgaggctgt	14	8	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:6580170G>A	uc003gjf.1	+	3	372	c.336G>A	c.(334-336)CAG>CAA	p.Q112Q	MAN2B2_uc003gje.1_Silent_p.Q112Q|MAN2B2_uc011bwf.1_Silent_p.Q112Q	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	112					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TCGGAGGCCAGGTCATGCATG	0.592													A	6580170	G	A	6580170	2	1	160	1	0	0	0	0	0	0	0	1	9217	991	35	4		4	MAN2B2	4	6580170	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	912801	6580170	184574106	284	87170											
C4orf23	152992	broad.mit.edu	37	chr4	8465746	8465746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccaatgataagaccctttTccctgatgttgattggttaa	7	9	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:8465746T>C	uc003glg.1	+	7	739	c.551T>C	c.(550-552)TTC>TCC	p.F184S	C4orf23_uc003glf.1_Missense_Mutation_p.F172S|C4orf23_uc003glh.1_Missense_Mutation_p.F21S	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	413					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0						AAGACCCTTTTCCCTGATGTT	0.423													C	8465746	T	C	8465746	3	2	160	1	0	0	0	0	1	0	0	0	2256	1783	62	3	1264	3	C4orf23	4	8465746	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1885576	8465746	182688530	285	87171											
NCAPG	64151	broad.mit.edu	37	chr4	17827008	17827008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatatcttcccttagatgGctgaaataaaagttaagctt	6	6	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:17827008G>A	uc003gpp.2	+	11	1653	c.1477G>A	c.(1477-1479)GCT>ACT	p.A493T	NCAPG_uc011bxj.1_Missense_Mutation_p.A2T	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	493					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		CCCTTAGATGGCTGAAATAAA	0.313													A	17827008	G	A	17827008	3	1	160	1	0	0	0	0	1	0	0	0	10207	1203	42	2	1519	2	NCAPG	4	17827008	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	9361262	17827008	173327268	286	87172											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830112	23830112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgttctctgtgggtttgGtgtgaggagggtcatcgttt	15	5	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:23830112G>A	uc003gqs.2	-	5	788	c.668C>T	c.(667-669)ACC>ATC	p.T223I	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	223					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			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TGTGGGTTTGGTGTGAGGAGG	0.483													A	23830112	G	A	23830112	3	1	160	1	0	0	0	0	1	0	0	0	12300	1261	44	4	1764	4	PPARGC1A	4	23830112	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	6003104	23830112	167324164	287	87173											
LGI2	55203	broad.mit.edu	37	chr4	25020788	25020788	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactaaatttcattacttaCagttcaatcagagagtctaa	4	7	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:25020788C>T	uc003grf.2	-	5	584	c.485_splice	c.e5+1	p.L162_splice		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2							extracellular region					0		Breast(46;0.173)				TCATTACTTACAGTTCAATCA	0.363													T	25020788	C	T	25020788	5	4	160	1	0	0	0	0	0	0	1	0	8752	492	17	4	1167	4	LGI2	4	25020788	Splice_Site	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1190676	25020788	166133488	288	87174											
SLC34A2	10568	broad.mit.edu	37	chr4	25677886	25677886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtatcgctggttcgccGtcttctacctgatcatcttc	7	14	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:25677886G>A	uc003grr.2	+	13	1669	c.1588G>A	c.(1588-1590)GTC>ATC	p.V530I	SLC34A2_uc003grs.2_Missense_Mutation_p.V529I|SLC34A2_uc010iev.2_Missense_Mutation_p.V529I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	530	Helical; Name=M7; (Potential).				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			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CTGGTTCGCCGTCTTCTACCT	0.622													A	25677886	G	A	25677886	3	1	160	1	0	0	0	0	1	0	0	0	14568	1145	40	1	1634	1	SLC34A2	4	25677886	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	657098	25677886	165476390	289	87175											
PCDH7	5099	broad.mit.edu	37	chr4	30724462	30724462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttccagctcaagccagCcagcgacaccgagggcgacc	11	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:30724462C>T	uc003gsk.1	+	1	2426	c.1418C>T	c.(1417-1419)GCC>GTC	p.A473V	PCDH7_uc011bxw.1_Missense_Mutation_p.A426V|PCDH7_uc011bxx.1_Missense_Mutation_p.A473V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	473	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CTCAAGCCAGCCAGCGACACC	0.622													T	30724462	C	T	30724462	3	4	160	1	0	0	0	0	1	0	0	0	11516	739	26	2	1420	2	PCDH7	4	30724462	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5046576	30724462	160429814	290	87176											
LIMCH1	22998	broad.mit.edu	37	chr4	41621327	41621327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgccttttaaccagTacctcccgaacaaaagcaat	6	13	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:41621327T>C	uc003gvu.3	+	8	859	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	LIMCH1_uc003gvt.1_Missense_Mutation_p.Y110H|LIMCH1_uc003gvv.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvw.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvx.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gwe.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvy.3_Missense_Mutation_p.Y110H|LIMCH1_uc003gwa.3_Missense_Mutation_p.Y110H|LIMCH1_uc003gvz.3_Missense_Mutation_p.Y110H|LIMCH1_uc011byu.1_Missense_Mutation_p.Y115H|LIMCH1_uc003gwc.3_Missense_Mutation_p.Y115H|LIMCH1_uc003gwd.3_Missense_Mutation_p.Y115H|LIMCH1_uc011byv.1_Missense_Mutation_p.Y20H|LIMCH1_uc003gwb.1_Missense_Mutation_p.Y117H	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	269					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TTTTAACCAGTACCTCCCGAA	0.547													C	41621327	T	C	41621327	3	2	160	1	0	0	0	0	1	0	0	0	8797	1638	57	3	863	3	LIMCH1	4	41621327	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	10896865	41621327	149532949	291	87177											
RASL11B	65997	broad.mit.edu	37	chr4	53728795	53728795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagatcgccgtggtgggcGccagcggcgtgggcaagacc	17	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:53728795G>A	uc003gzt.2	+	1	301	c.121G>A	c.(121-123)GCC>ACC	p.A41T		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	41	Small GTPase-like.|GTP (By similarity).				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			CGTGGTGGGCGCCAGCGGCGT	0.721													A	53728795	G	A	53728795	3	1	160	1	0	0	0	0	1	0	0	0	13082	1087	38	1	123	1	RASL11B	4	53728795	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	12107468	53728795	137425481	292	87178											
LPHN3	23284	broad.mit.edu	37	chr4	62453016	62453016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagctatcctatagagCttcgctgtccaggaacagac	11	10	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:62453016C>A	uc010ihh.2	+	2	300	c.127C>A	c.(127-129)CTT>ATT	p.L43I	LPHN3_uc003hcq.3_Missense_Mutation_p.L43I|LPHN3_uc010ihg.1_Missense_Mutation_p.L111I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	43	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TCCTATAGAGCTTCGCTGTCC	0.478													A	62453016	C	A	62453016	3	1	160	1	0	0	0	0	1	0	0	0	8917	797	28	5	133	5	LPHN3	4	62453016	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	8724221	62453016	128701260	293	87179											
AFP	174	broad.mit.edu	37	chr4	74308075	74308075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacaattcttctttgggCtgctcgctatgacaaaataa	6	10	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:74308075C>T	uc003hgz.1	+	5	592	c.545C>T	c.(544-546)GCT>GTT	p.A182V	AFP_uc003hha.1_Missense_Mutation_p.A182V|AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	182	Albumin 1.				transport		metal ion binding			ovary(1)	1	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)			CTTCTTTGGGCTGCTCGCTAT	0.378									Alpha-Fetoprotein_Hereditary_Persistence_of				T	74308075	C	T	74308075	3	4	160	1	0	0	0	0	1	0	0	0	363	797	28	2	563	2	AFP	4	74308075	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	11855059	74308075	116846201	294	87180											
PRDM8	56978	broad.mit.edu	37	chr4	81123123	81123123	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtttccagtttgagttcccCtatgtggcgcatctgcgttt	10	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:81123123C>A	uc010ijo.2	+	8	1346	c.507C>A	c.(505-507)CCC>CCA	p.P169P	PRDM8_uc003hmb.3_Silent_p.P169P|PRDM8_uc003hmc.3_Silent_p.P169P	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	169	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTGAGTTCCCCTATGTGGCGC	0.388											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	81123123	C	A	81123123	2	1	160	1	0	0	0	0	0	0	0	1	12462	668	24	5		5	PRDM8	4	81123123	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	6815048	81123123	110031153	295	87181											
SMARCAD1	56916	broad.mit.edu	37	chr4	95185970	95185970	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgaacaaatgtgaagacaTttcaaataaattgaccaaac	5	6	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:95185970T>A	uc003htc.3	+	10	1649	c.1394T>A	c.(1393-1395)ATT>AAT	p.I465N	SMARCAD1_uc003htb.3_Missense_Mutation_p.I465N|SMARCAD1_uc003htd.3_Missense_Mutation_p.I465N|SMARCAD1_uc010ila.2_Missense_Mutation_p.I328N|SMARCAD1_uc011cdw.1_Missense_Mutation_p.I35N	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	465					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			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGTGAAGACATTTCAAATAAA	0.348													A	95185970	T	A	95185970	3	1	160	1	0	0	0	0	1	0	0	0	14772	1493	52	5	1428	5	SMARCAD1	4	95185970	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	14062847	95185970	95968306	296	87182											
ADH5	128	broad.mit.edu	37	chr4	100003128	100003128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtattctccttacccGccttcagcttagtaactccc	4	15	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:100003128G>A	uc003hui.2	-	3	334	c.254C>T	c.(253-255)GCG>GTG	p.A85V	ADH5_uc003huk.1_Missense_Mutation_p.A85V|ADH5_uc003huj.2_5'UTR	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	85					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			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CTCCTTACCCGCCTTCAGCTT	0.408													A	100003128	G	A	100003128	3	1	160	1	0	0	0	0	1	0	0	0	311	1087	38	1	898	1	ADH5	4	100003128	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4817158	100003128	91151148	297	87183											
KIAA1109	84162	broad.mit.edu	37	chr4	123277081	123277081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagactatctttgcattAccaaggatgcagcttgactt	8	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:123277081A>G	uc003ieh.2	+	81	14481	c.14436A>G	c.(14434-14436)TTA>TTG	p.L4812L	KIAA1109_uc003iem.2_Silent_p.L1168L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4812					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCTTTGCATTACCAAGGATGC	0.363													G	123277081	A	G	123277081	2	3	160	1	0	0	0	0	0	0	0	1	8208	388	14	3		3	KIAA1109	4	123277081	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	23273953	123277081	67877195	298	87184											
BBS12	166379	broad.mit.edu	37	chr4	123664512	123664512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagataggaacaacagaatcGcaatcttattaaaaacagaa	6	6	1	3	rs145489987	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:123664512G>A	uc003ieu.2	+	2	1658	c.1465G>A	c.(1465-1467)GCA>ACA	p.A489T		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	489					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						CAACAGAATCGCAATCTTATT	0.438									Bardet-Biedl_syndrome				A	123664512	G	A	123664512	3	1	160	1	0	0	0	0	1	0	0	0	1337	1087	38	1	1467	1	BBS12	4	123664512	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	387431	123664512	67489764	299	87185											
FAT4	79633	broad.mit.edu	37	chr4	126241924	126241924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgatgcagacattaatgGtcaactatcctacacaatca	5	12	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:126241924G>A	uc003ifj.3	+	1	4358	c.4358G>A	c.(4357-4359)GGT>GAT	p.G1453D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1453	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G1453G(1)		ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACATTAATGGTCAACTATCC	0.398													A	126241924	G	A	126241924	3	1	160	1	0	0	0	0	1	0	0	0	5692	1261	44	4	4360	4	FAT4	4	126241924	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2577412	126241924	64912352	300	87186											
FAT4	79633	broad.mit.edu	37	chr4	126370814	126370814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctattatttagattgCcctgaacttactgagattgg	7	8	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:126370814C>T	uc003ifj.3	+	9	8643	c.8643C>T	c.(8641-8643)TGC>TGT	p.C2881C	FAT4_uc011cgp.1_Silent_p.C1179C|FAT4_uc003ifi.1_Silent_p.C359C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2881	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATTTAGATTGCCCTGAACTTA	0.373													T	126370814	C	T	126370814	2	4	160	1	0	0	0	0	0	0	0	1	5692	747	26	2		2	FAT4	4	126370814	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	128890	126370814	64783462	301	87187											
PLK4	10733	broad.mit.edu	37	chr4	128808580	128808580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtccaggaaaaactcCttttccatttgcagacccga	6	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:128808580C>T	uc003ifo.2	+	6	1633	c.1388C>T	c.(1387-1389)CCT>CTT	p.P463L	PLK4_uc011cgs.1_Missense_Mutation_p.P431L|PLK4_uc011cgt.1_Missense_Mutation_p.P422L	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	463					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				0						GGAAAAACTCCTTTTCCATTT	0.328													T	128808580	C	T	128808580	3	4	160	1	0	0	0	0	1	0	0	0	12098	681	24	4	1410	4	PLK4	4	128808580	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2437766	128808580	62345696	302	87188											
LARP1B	55132	broad.mit.edu	37	chr4	129127627	129127628	+	Frame_Shift_Ins	INS	-	-	A													ttttatagttatggactggaINSaaaaaaattcaggcgagaaa							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:129127626_129127627G>GA	uc003iga.3	+	17	2484_2485	c.2353_2354G>GA	c.(2353-2355)gaafs	p.E785fs	LARP1B_uc003igc.3_Frame_Shift_Ins_p.E204fs|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Intron|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_Intron	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	785							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTATGGACTGGAAAAAAAATTC	0.292													A	129127628	-	A	129127627	7	5	160	1	0	1	1	0	0	0	0	0	8629	246	9	0	2550	0	LARP1B	4	129127627	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	319047	129127627	62026649	303	87189											
PHF17	79960	broad.mit.edu	37	chr4	129773269	129773269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctagaggaatttgagcagcGatgctacgacaatatgaatc	10	8	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:129773269G>A	uc003igk.2	+	6	822	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	PHF17_uc003igj.2_Missense_Mutation_p.R181Q|PHF17_uc003igl.2_Missense_Mutation_p.R169Q|PHF17_uc011cgy.1_Missense_Mutation_p.R181Q|PHF17_uc003igm.2_Missense_Mutation_p.R181Q	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	181					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						TTTGAGCAGCGATGCTACGAC	0.428													A	129773269	G	A	129773269	3	1	160	1	0	0	0	0	1	0	0	0	11828	1058	37	1	560	1	PHF17	4	129773269	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	645642	129773269	61381007	304	87190											
PCDH10	57575	broad.mit.edu	37	chr4	134072703	134072703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagccggtctacgacGtgtatgtgactgaaaacaac	10	11	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:134072703G>A	uc003iha.2	+	1	2234	c.1408G>A	c.(1408-1410)GTG>ATG	p.V470M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V470M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	470	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTCTACGACGTGTATGTGAC	0.617													A	134072703	G	A	134072703	3	1	160	1	0	0	0	0	1	0	0	0	11507	1145	40	1	1410	1	PCDH10	4	134072703	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4299434	134072703	57081573	305	87191											
CLGN	1047	broad.mit.edu	37	chr4	141321549	141321549	+	Frame_Shift_Del	DEL	T	T	-													tcttcctgtctgtaaagaacTttttaaggtctacatctgga							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:141321548_141321548CT>C	uc011chi.2	-	7	875	c.657_657AG>G	c.(655-657)aagfs	p.K219fs	CLGN_uc003iii.3_Frame_Shift_Del_p.K219fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	219					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.K218E(1)		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)					CTGTAAAGAACTTTTTAAGGT	0.333													-	141321549	T	-	141321549	7	5	160	1	0	1	0	1	0	0	0	0	3524	1609	56	0	1212	0	CLGN	4	141321549	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	7248846	141321549	49832727	306	87192											
SLC10A7	84068	broad.mit.edu	37	chr4	147363969	147363969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgaattaaatattgcaGctgcctatgaagaaaataaa	8	5	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:147363969G>A	uc010ioz.2	-	5	655	c.401C>T	c.(400-402)GCT>GTT	p.A134V	SLC10A7_uc003ikr.2_Missense_Mutation_p.A134V|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.A134V	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	134	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)					AAATATTGCAGCTGCCTATGA	0.299													A	147363969	G	A	147363969	3	1	160	1	0	0	0	0	1	0	0	0	14379	971	34	2	698	2	SLC10A7	4	147363969	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	6042420	147363969	43790307	307	87193											
NR3C2	4306	broad.mit.edu	37	chr4	149357499	149357499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgacgccaccattcaCggagctcccagagtcagaca	10	15	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:149357499C>T	uc003ilj.3	-	2	848	c.514G>A	c.(514-516)GTG>ATG	p.V172M	NR3C2_uc003ilk.3_Missense_Mutation_p.V172M|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	172	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCACCATTCACGGAGCTCCCA	0.483													T	149357499	C	T	149357499	3	4	160	1	0	0	0	0	1	0	0	0	10631	536	19	1	2472	1	NR3C2	4	149357499	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1993530	149357499	41796777	308	87194											
FGA	2243	broad.mit.edu	37	chr4	155505317	155505317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattttcatgcgaacagcccTgagggaataatctgcccctc	8	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:155505317T>C	uc003iod.1	-	6	2618	c.2560A>G	c.(2560-2562)AGG>GGG	p.R854G		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	854	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			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGAACAGCCCTGAGGGAATAA	0.483													C	155505317	T	C	155505317	3	2	160	1	0	0	0	0	1	0	0	0	5830	1579	55	3	44	3	FGA	4	155505317	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	6147818	155505317	35648959	309	87195											
GRIA2	2891	broad.mit.edu	37	chr4	158281222	158281222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgagcaaaggaagccttgcGacaccatgaaagttggtgga	13	7	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:158281222G>A	uc003ipm.3	+	13	2677	c.2218G>A	c.(2218-2220)GAC>AAC	p.D740N	GRIA2_uc011cit.1_Missense_Mutation_p.D693N|GRIA2_uc003ipl.3_Missense_Mutation_p.D740N|GRIA2_uc003ipk.3_Missense_Mutation_p.D693N|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.D50N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.D50N|GRIA2_uc011ciy.1_Missense_Mutation_p.D50N|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	740	Extracellular (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAGCCTTGCGACACCATGAA	0.478													A	158281222	G	A	158281222	3	1	160	1	0	0	0	0	1	0	0	0	6768	1058	37	1	2268	1	GRIA2	4	158281222	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2775905	158281222	32873054	310	87196											
TMEM144	55314	broad.mit.edu	37	chr4	159140505	159140505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagaagtatcaaatccgCtgctaaattacattggagct	8	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:159140505C>T	uc003ipx.2	+	6	896	c.376C>T	c.(376-378)CTG>TTG	p.L126L	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	126	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		ATCAAATCCGCTGCTAAATTA	0.353													T	159140505	C	T	159140505	2	4	160	1	0	0	0	0	0	0	0	1	16055	796	28	2		2	TMEM144	4	159140505	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	859283	159140505	32013771	311	87197											
TKTL2	84076	broad.mit.edu	37	chr4	164394290	164394290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattctggtagatgtctgcGccatgctcaaggggtgcagg	14	9	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:164394290G>A	uc003iqp.3	-	1	758	c.597C>T	c.(595-597)GGC>GGT	p.G199G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	199						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGATGTCTGCGCCATGCTCAA	0.517													A	164394290	G	A	164394290	2	1	160	1	0	0	0	0	0	0	0	1	15933	1074	38	1		1	TKTL2	4	164394290	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5253785	164394290	26759986	312	87198											
TLL1	7092	broad.mit.edu	37	chr4	166915567	166915567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacagttaagggaaaagtAcctctacaattctcagggca	8	9	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:166915567A>G	uc003irh.1	+	4	1043	c.396A>G	c.(394-396)GTA>GTG	p.V132V	TLL1_uc011cjn.1_Silent_p.V132V|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	132					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGGAAAAGTACCTCTACAAT	0.408													G	166915567	A	G	166915567	2	3	160	1	0	0	0	0	0	0	0	1	15942	378	14	3		3	TLL1	4	166915567	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2521277	166915567	24238709	313	87199											
GALNTL6	442117	broad.mit.edu	37	chr4	172735857	172735857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgaagtcagcggagccCggggagcagcaggtaagtgc	18	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:172735857C>T	uc003isv.2	+	2	862	c.126C>T	c.(124-126)CCC>CCT	p.P42P		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	42	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CAGCGGAGCCCGGGGAGCAGC	0.547													T	172735857	C	T	172735857	2	4	160	1	0	0	0	0	0	0	0	1	6225	639	23	1		1	GALNTL6	4	172735857	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5820290	172735857	18418419	314	87200											
KLKB1	3818	broad.mit.edu	37	chr4	187155141	187155141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagatagtgttacaggaaCcctgccaaaagtacatcgaa	9	8	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187155141C>T	uc003iyy.2	+	4	328	c.257C>T	c.(256-258)ACC>ATC	p.T86I	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.T48I	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	86	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			ovary(1)	1		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)		GTTACAGGAACCCTGCCAAAA	0.358													T	187155141	C	T	187155141	3	4	160	1	0	0	0	0	1	0	0	0	8412	507	18	4	267	4	KLKB1	4	187155141	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	14419284	187155141	3999135	315	87201											
MTNR1A	4543	broad.mit.edu	37	chr4	187455439	187455439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggccgccagcgtcaggaGccatatgaggagcacgtagc	15	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187455439G>A	uc003izd.1	-	2	475	c.457C>T	c.(457-459)CTC>TTC	p.L153F		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	153	Helical; Name=4; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		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)	AGCGTCAGGAGCCATATGAGG	0.602													A	187455439	G	A	187455439	3	1	160	1	0	0	0	0	1	0	0	0	9951	971	34	2	599	2	MTNR1A	4	187455439	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	300298	187455439	3698837	316	87202											
FAT1	2195	broad.mit.edu	37	chr4	187530381	187530381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgacttctcccctgaCggggtcaattgtgaacgagc	10	12	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187530381C>T	uc003izf.2	-	16	10350	c.10162G>A	c.(10162-10164)GTC>ATC	p.V3388I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3388	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCTCCCCTGACGGGGTCAATT	0.443										HNSCC(5;0.00058)			T	187530381	C	T	187530381	3	4	160	1	0	0	0	0	1	0	0	0	5689	536	19	1	3652	1	FAT1	4	187530381	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	74942	187530381	3623895	317	87203											
FAT1	2195	broad.mit.edu	37	chr4	187557246	187557246	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccaatcatgtgagcaacGgggtcactttccatcacagt	8	12	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187557246G>T	uc003izf.2	-	6	4304	c.4116C>A	c.(4114-4116)CCC>CCA	p.P1372P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1372	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGTGAGCAACGGGGTCACTTT	0.458										HNSCC(5;0.00058)			T	187557246	G	T	187557246	2	4	160	1	0	0	0	0	0	0	0	1	5689	1103	39	5		5	FAT1	4	187557246	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	26865	187557246	3597030	318	87204											
FAT1	2195	broad.mit.edu	37	chr4	187557926	187557926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgtctggcatttctttctCggtctggcttttcccgctca	8	15	5	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187557926C>T	uc003izf.2	-	5	3973	c.3785G>A	c.(3784-3786)CGA>CAA	p.R1262Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1262	Extracellular (Potential).|Cadherin 11.				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATTTCTTTCTCGGTCTGGCTT	0.478										HNSCC(5;0.00058)			T	187557926	C	T	187557926	3	4	160	1	0	0	0	0	1	0	0	0	5689	884	31	1	10073	1	FAT1	4	187557926	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	680	187557926	3596350	319	87205											
SLC9A3	6550	broad.mit.edu	37	chr5	485314	485314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacgttgtcacctcccagCgccacgaaagattcaaacac	7	15	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:485314C>T	uc003jbe.2	-	4	820	c.708G>A	c.(706-708)GCG>GCA	p.A236A	SLC9A3_uc011clx.1_Silent_p.A236A	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	236	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACCTCCCAGCGCCACGAAAG	0.632													T	485314	C	T	485314	2	4	160	1	0	0	0	0	0	0	0	1	14713	755	27	1		1	SLC9A3	5	485314	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		485314	180429946	320	87206											
TPPP	11076	broad.mit.edu	37	chr5	666085	666085	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatccccgccctgctcacCgtcacccctgagatgatggg	9	18	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:666085C>A	uc003jbg.3	-	2	1183	c.465G>T	c.(463-465)ACG>ACT	p.T155T	TPPP_uc003jbh.3_Silent_p.T155T	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	155					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		cccTGCTCACCGTCACCCCTG	0.373													A	666085	C	A	666085	2	1	160	1	0	0	0	0	0	0	0	1	16410	666	23	5		5	TPPP	5	666085	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	180771	666085	180249175	321	87207											
IRX2	153572	broad.mit.edu	37	chr5	2749036	2749036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcgtcgtcctccagGtcgtcatacttgtccttgca	8	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:2749036G>A	uc003jda.2	-	3	1028	c.786C>T	c.(784-786)GAC>GAT	p.D262D	IRX2_uc003jdb.2_Silent_p.D262D	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGTCCTCCAGGTCGTCATACT	0.706													A	2749036	G	A	2749036	2	1	160	1	0	0	0	0	0	0	0	1	7844	1252	44	4		4	IRX2	5	2749036	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2082951	2749036	178166224	322	87208											
IRX2	153572	broad.mit.edu	37	chr5	2749798	2749798	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtcccgcgtggcgttcttgCggtacgcggggtcgttgagc	17	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:2749798C>G	uc003jda.2	-	2	595	c.353G>C	c.(352-354)CGC>CCC	p.R118P	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.R118P	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	118	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GGCGTTCTTGCGGTACGCGGG	0.672													G	2749798	C	G	2749798	3	3	160	1	0	0	0	0	1	0	0	0	7844	768	27	5	1074	5	IRX2	5	2749798	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	762	2749798	178165462	323	87209											
ADCY2	108	broad.mit.edu	37	chr5	7727281	7727281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctccccctcagtaccGggccacggcactgccagcgt	9	19	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:7727281G>A	uc003jdz.1	+	14	1845	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q	ADCY2_uc011cmo.1_Missense_Mutation_p.R413Q	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	593	Cytoplasmic (Potential).				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			ovary(5)|pancreas(1)|skin(1)	7						CCTCAGTACCGGGCCACGGCA	0.507													A	7727281	G	A	7727281	3	1	160	1	0	0	0	0	1	0	0	0	294	1116	39	1	1832	1	ADCY2	5	7727281	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4977483	7727281	173187979	324	87210											
TRIO	7204	broad.mit.edu	37	chr5	14488156	14488156	+	Frame_Shift_Del	DEL	C	C	-													tctctcggcaaggagcccttCccccccagcagccccctgca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:14488156delC	uc003jff.2	+	48	7425	c.7419delC	c.(7417-7419)TTCfs	p.F2473fs	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Frame_Shift_Del_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2473					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGGAGCCCTTCCCCCCCAGCA	0.746													-	14488156	C	-	14488156	7	5	160	1	0	1	0	1	0	0	0	0	16549	854	30	0	7609	0	TRIO	5	14488156	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	6760875	14488156	166427104	325	87211											
FAM105B	90268	broad.mit.edu	37	chr5	14693056	14693056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaattcatcacagtctacCccaccgacccacccaaggac	5	17	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:14693056C>T	uc003jfk.2	+	7	1110	c.958C>T	c.(958-960)CCC>TCC	p.P320S		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	320										ovary(2)	2	Lung NSC(4;0.00696)					CACAGTCTACCCCACCGACCC	0.537													T	14693056	C	T	14693056	3	4	160	1	0	0	0	0	1	0	0	0	5388	623	22	4	984	4	FAM105B	5	14693056	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	204900	14693056	166222204	326	87212											
PDZD2	23037	broad.mit.edu	37	chr5	32073990	32073990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcgtgactcttgggagCcatcgggcttctgggctctt	13	12	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:32073990C>T	uc003jhl.2	+	18	3166	c.2778C>T	c.(2776-2778)AGC>AGT	p.S926S	PDZD2_uc003jhm.2_Silent_p.S926S|PDZD2_uc011cnx.1_Silent_p.S752S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	926					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCTTGGGAGCCATCGGGCTT	0.587													T	32073990	C	T	32073990	2	4	160	1	0	0	0	0	0	0	0	1	11701	738	26	2		2	PDZD2	5	32073990	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	17380934	32073990	148841270	327	87213											
GOLPH3	64083	broad.mit.edu	37	chr5	32126337	32126337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacttggtgaacgccgccAccaccgcccacagaacctca	8	17	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:32126337A>G	uc003jhp.1	-	4	1163	c.878T>C	c.(877-879)GTG>GCG	p.V293A		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3	293					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			ovary(1)	1						GAACGCCGCCACCACCGCCCA	0.483													G	32126337	A	G	32126337	3	3	160	1	0	0	0	0	1	0	0	0	6568	159	6	3	22	3	GOLPH3	5	32126337	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	52347	32126337	148788923	328	87214											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:32407029A>T	uc003jhr.1	-	6	962	c.882T>A	c.(880-882)GCT>GCA	p.A294A	ZFR_uc010iun.1_Silent_p.A294A	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.294													T	32407029	A	T	32407029	2	4	160	1	0	0	0	0	0	0	0	1	17656	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	280692	32407029	148508231	329	87215											
LIFR	3977	broad.mit.edu	37	chr5	38504084	38504084	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagagaatcttacctgctcTtgtactgaattagatttctt	6	7	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:38504084T>G	uc010ive.1	-	10	1763	c.1431A>C	c.(1429-1431)CAA>CAC	p.Q477H	LIFR_uc003jli.2_Missense_Mutation_p.Q477H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	477	Extracellular (Potential).|Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TTACCTGCTCTTGTACTGAAT	0.284			T	PLAG1	salivary adenoma								G	38504084	T	G	38504084	3	3	160	1	0	0	0	0	1	0	0	0	8780	1606	56	5	1906	5	LIFR	5	38504084	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	6097055	38504084	142411176	330	87216											
HEATR7B2	133558	broad.mit.edu	37	chr5	41000384	41000384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcctgatcaaggagacGgtctaataccccatagagct	9	10	2	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:41000384G>A	uc003jmj.3	-	39	4910	c.4420C>T	c.(4420-4422)CGT>TGT	p.R1474C	HEATR7B2_uc003jmi.3_Missense_Mutation_p.R1029C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1474							binding			ovary(6)|central_nervous_system(2)	8						TCAAGGAGACGGTCTAATACC	0.502													A	41000384	G	A	41000384	3	1	160	1	0	0	0	0	1	0	0	0	7035	1116	39	1	353	1	HEATR7B2	5	41000384	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2496300	41000384	139914876	331	87217											
C5orf39	389289	broad.mit.edu	37	chr5	43039978	43039978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgccagcaagggctggaAagcagtcccaaatcacagct	11	13	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:43039978A>G	uc003jnf.2	-	1	470	c.171T>C	c.(169-171)CTT>CTC	p.L57L	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	annexin II receptor	57							receptor activity				0						AAGGGCTGGAAAGCAGTCCCA	0.552											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	43039978	A	G	43039978	2	3	160	1	0	0	0	0	0	0	0	1	2297	1	1	3		3	C5orf39	5	43039978	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2039594	43039978	137875282	332	87218											
MAP3K1	4214	broad.mit.edu	37	chr5	56170909	56170910	+	Frame_Shift_Del	DEL	GA	GA	-													ttttctagaaactggaatgtGagagagatggccctcaggcg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:56170908_56170909TGA>T	uc003jqw.4	+	9	2237_2238	c.1736_1737TGA>T	c.(1735-1737)gtgfs	p.V579fs		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	579					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|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)		AACTGGAATGTGAGAGAGATGG	0.485													-	56170910	GA	-	56170909	7	5	160	1	0	1	0	1	0	0	0	0	9243	1277	45	0	1775	0	MAP3K1	5	56170909	Frame_Shift_Del	DEL	GA	TCGA-CD-A4MI-01A-21D-A25D-08	13130931	56170909	124744351	333	87219											
KIF2A	3796	broad.mit.edu	37	chr5	61669536	61669536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaaagaattgactgtagatCcaactgctgctggtgatgtt	10	7	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:61669536C>A	uc003jsy.3	+	17	1980	c.1669C>A	c.(1669-1671)CCA>ACA	p.P557T	KIF2A_uc003jsz.3_Missense_Mutation_p.P595T|KIF2A_uc010iwp.2_Missense_Mutation_p.P538T|KIF2A_uc003jsx.3_Missense_Mutation_p.P537T|KIF2A_uc010iwq.2_Missense_Mutation_p.P360T	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	557					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GACTGTAGATCCAACTGCTGC	0.423													A	61669536	C	A	61669536	3	1	160	1	0	0	0	0	1	0	0	0	8297	855	30	5	1853	5	KIF2A	5	61669536	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5498627	61669536	119245724	334	87220											
IPO11	51194	broad.mit.edu	37	chr5	61821993	61821993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggagcagacagcaagaacCtgtaccctttcctgctccca	8	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:61821993C>A	uc003jtc.2	+	21	2111	c.1921C>A	c.(1921-1923)CTG>ATG	p.L641M	IPO11_uc011cqr.1_Missense_Mutation_p.L681M|IPO11_uc003jtd.1_RNA|IPO11_uc010iwr.2_Intron	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	641	HEAT 9.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAGCAAGAACCTGTACCCTTT	0.393													A	61821993	C	A	61821993	3	1	160	1	0	0	0	0	1	0	0	0	7793	680	24	5	2123	5	IPO11	5	61821993	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	152457	61821993	119093267	335	87221											
CWC27	10283	broad.mit.edu	37	chr5	64267563	64267563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagatggtgctgttgccgAatacagaagagaaaagcaaa	11	7	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:64267563A>G	uc003jtn.1	+	12	1295	c.1076A>G	c.(1075-1077)GAA>GGA	p.E359G	CWC27_uc010iwt.1_Missense_Mutation_p.E359G	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	359	Potential.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						GCTGTTGCCGAATACAGAAGA	0.388													G	64267563	A	G	64267563	3	3	160	1	0	0	0	0	1	0	0	0	4070	246	9	3	1122	3	CWC27	5	64267563	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2445570	64267563	116647697	336	87222											
CENPH	64946	broad.mit.edu	37	chr5	68487667	68487667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttagaatataaatcaatGgttgatgcaagtaagtattt	7	4	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:68487667G>A	uc003jvp.2	+	2	267	c.180G>A	c.(178-180)ATG>ATA	p.M60I	uc003jvn.1_5'Flank|uc003jvo.3_5'Flank|CENPH_uc010ixc.2_Missense_Mutation_p.M60I	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	centromere protein H	60	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			large_intestine(1)	1		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATAAATCAATGGTTGATGCAA	0.199													A	68487667	G	A	68487667	3	1	160	1	0	0	0	0	1	0	0	0	3232	1348	47	4	186	4	CENPH	5	68487667	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4220104	68487667	112427593	337	87223											
GFM2	84340	broad.mit.edu	37	chr5	74041649	74041649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcattactacatccaccaCtcctttgaaagttttggctt	4	11	1	1	rs146259893	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:74041649C>T	uc003kdh.1	-	10	1007	c.703G>A	c.(703-705)GTG>ATG	p.V235M	GFM2_uc003kdi.1_Missense_Mutation_p.V235M|GFM2_uc010izj.1_Missense_Mutation_p.V267M|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.V235M|GFM2_uc010izl.1_Missense_Mutation_p.V193M	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	235					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		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)		ACATCCACCACTCCTTTGAAA	0.358													T	74041649	C	T	74041649	3	4	160	1	0	0	0	0	1	0	0	0	6342	565	20	4	1716	4	GFM2	5	74041649	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5553982	74041649	106873611	338	87224											
VCAN	1462	broad.mit.edu	37	chr5	82815900	82815900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaagacaccatccacaCtcatttagaagacttggagt	7	10	2	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:82815900C>T	uc003kii.3	+	7	2131	c.1775C>T	c.(1774-1776)ACT>ATT	p.T592I	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T592I|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	592	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		ACCATCCACACTCATTTAGAA	0.423													T	82815900	C	T	82815900	3	4	160	1	0	0	0	0	1	0	0	0	17135	565	20	4	1797	4	VCAN	5	82815900	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	8774251	82815900	98099360	339	87225											
VCAN	1462	broad.mit.edu	37	chr5	82832916	82832916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaacagatccagtgcAtgatctaatggctgaaattt	9	6	1	5			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:82832916A>G	uc003kii.3	+	8	4450	c.4094A>G	c.(4093-4095)CAT>CGT	p.H1365R	VCAN_uc003kij.3_Missense_Mutation_p.H378R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.H29R	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1365	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GATCCAGTGCATGATCTAATG	0.308													G	82832916	A	G	82832916	3	3	160	1	0	0	0	0	1	0	0	0	17135	217	8	3	4120	3	VCAN	5	82832916	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	17016	82832916	98082344	340	87226											
ELL2	22936	broad.mit.edu	37	chr5	95236414	95236414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgaggagaagatacagCgtctctactagaacatacag	9	9	1	4	rs150945042	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:95236414C>T	uc003klr.3	-	7	1287	c.937G>A	c.(937-939)GCT>ACT	p.A313T		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	313					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		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)		GAAGATACAGCGTCTCTACTA	0.269													T	95236414	C	T	95236414	3	4	160	1	0	0	0	0	1	0	0	0	5063	768	27	1	1009	1	ELL2	5	95236414	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	12403498	95236414	85678846	341	87227											
ERAP1	51752	broad.mit.edu	37	chr5	96126301	96126301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaataccacttttaaatgCgtcagcactaagatactccc	4	12	1	1	rs150674566		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:96126301C>T	uc003kmm.2	-	9	1713	c.1366G>A	c.(1366-1368)GCA>ACA	p.A456T	ERAP1_uc003kml.2_Missense_Mutation_p.A456T|ERAP1_uc010jbm.1_Missense_Mutation_p.A268T|ERAP1_uc003kmn.2_Missense_Mutation_p.A456T	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	456	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2		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)		CTTTTAAATGCGTCAGCACTA	0.348													T	96126301	C	T	96126301	3	4	160	1	0	0	0	0	1	0	0	0	5203	768	27	1	1536	1	ERAP1	5	96126301	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	889887	96126301	84788959	342	87228											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191819	100191819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttaccctctgacagcaTgaataagtctcaatgacgga	7	11	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:100191819T>C	uc003knk.2	-	4	1113	c.785A>G	c.(784-786)CAT>CGT	p.H262R		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	262	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTGACAGCATGAATAAGTCT	0.413													C	100191819	T	C	100191819	3	2	160	1	0	0	0	0	1	0	0	0	15233	1464	51	3	302	3	ST8SIA4	5	100191819	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4065518	100191819	80723441	343	87229											
ST8SIA4	7903	broad.mit.edu	37	chr5	100238656	100238656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcttcctaatggagcGcatcttgggtgcccgagaaa	10	13	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:100238656G>A	uc003knk.2	-	1	332	c.4C>T	c.(4-6)CGC>TGC	p.R2C	ST8SIA4_uc003knl.2_Missense_Mutation_p.R2C	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	2	Cytoplasmic (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTAATGGAGCGCATCTTGGGT	0.507													A	100238656	G	A	100238656	3	1	160	1	0	0	0	0	1	0	0	0	15233	1087	38	1	1099	1	ST8SIA4	5	100238656	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	46837	100238656	80676604	344	87230											
KCNN2	3781	broad.mit.edu	37	chr5	113822861	113822861	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcaacgaaaattcctgCaagctattcatcagtaagta	5	9	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:113822861C>T	uc003kqo.2	+	6	1826	c.1369C>T	c.(1369-1371)CAA>TAA	p.Q457*	KCNN2_uc003kqp.2_Nonsense_Mutation_p.Q109*|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	457	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		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)		AAAATTCCTGCAAGCTATTCA	0.323													T	113822861	C	T	113822861	4	4	160	1	0	0	0	0	0	1	0	0	8079	711	25	2	1391	2	KCNN2	5	113822861	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	13584205	113822861	67092399	345	87231											
GDF9	2661	broad.mit.edu	37	chr5	132198189	132198189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagactgacttgagtaAgtgttcaacggtagtaatgc	11	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:132198189A>C	uc003kxz.1	-	2	709	c.457T>G	c.(457-459)TTA>GTA	p.L153V	GDF9_uc011cxj.1_Missense_Mutation_p.L65V	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	153					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTTGAGTAAGTGTTCAACG	0.383													C	132198189	A	C	132198189	3	2	160	1	0	0	0	0	1	0	0	0	6319	69	3	5	911	5	GDF9	5	132198189	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	18375328	132198189	48717071	346	87232											
C5orf15	56951	broad.mit.edu	37	chr5	133295584	133295584	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtactcgtcgtgggAgggagggtggtgctgatttg	18	5	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:133295584A>T	uc003kyo.2	-	2	398	c.267T>A	c.(265-267)CCT>CCA	p.P89P		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	89	Extracellular (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TCGTCGTGGGAGGGAGGGTGG	0.463													T	133295584	A	T	133295584	2	4	160	1	0	0	0	0	0	0	0	1	2283	291	11	5		5	C5orf15	5	133295584	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1097395	133295584	47619676	347	87233											
CAMLG	819	broad.mit.edu	37	chr5	134077026	134077026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtccagaggggttcccGccatggcctagagcagtacc	13	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:134077026G>A	uc003kzt.2	+	2	551	c.446G>A	c.(445-447)CGC>CAC	p.R149H	CAMLG_uc003kzu.2_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	149	Cytoplasmic (Potential).				defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AGGGGTTCCCGCCATGGCCTA	0.507													A	134077026	G	A	134077026	3	1	160	1	0	0	0	0	1	0	0	0	2609	1087	38	1	452	1	CAMLG	5	134077026	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	781442	134077026	46838234	348	87234											
SPOCK1	6695	broad.mit.edu	37	chr5	136834106	136834106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggtcgtactgggagaCggtgctcagccactggtcat	14	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:136834106C>T	uc003lbo.2	-	1	333	c.142G>A	c.(142-144)GTC>ATC	p.V48I	SPOCK1_uc003lbp.2_Missense_Mutation_p.V48I	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	48					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACTGGGAGACGGTGCTCAGC	0.682													T	136834106	C	T	136834106	3	4	160	1	0	0	0	0	1	0	0	0	15078	536	19	1	1217	1	SPOCK1	5	136834106	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2757080	136834106	44081154	349	87235											
SLC4A9	83697	broad.mit.edu	37	chr5	139747324	139747324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggagctggcttccaccTggacctcttctgtgtggctg	14	11	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:139747324T>C	uc003lfm.2	+	16	2302	c.2267T>C	c.(2266-2268)CTG>CCG	p.L756P	SLC4A9_uc003lfj.2_Missense_Mutation_p.L732P|SLC4A9_uc011czg.1_Missense_Mutation_p.L669P|SLC4A9_uc003lfl.2_Missense_Mutation_p.L732P|SLC4A9_uc003lfk.2_Missense_Mutation_p.L718P	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	756	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTCCACCTGGACCTCTTC	0.587													C	139747324	T	C	139747324	3	2	160	1	0	0	0	0	1	0	0	0	14660	1580	55	3	2257	3	SLC4A9	5	139747324	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2913218	139747324	41167936	350	87236											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139887548	139887548	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaagtagtgagtttgcttCtggaccgaaaagccaatgtt	11	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:139887548C>A	uc003lfs.1	+	20	3854	c.3730C>A	c.(3730-3732)CTG>ATG	p.L1244M	ANKHD1_uc003lfq.1_Missense_Mutation_p.L1263M|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1244M|ANKHD1_uc003lft.1_Missense_Mutation_p.L455M|ANKHD1_uc003lfu.1_Missense_Mutation_p.L724M|ANKHD1_uc003lfv.1_Missense_Mutation_p.L321M|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank|ANKHD1_uc003lfw.2_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1244						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTTTGCTTCTGGACCGAAA	0.433													A	139887548	C	A	139887548	3	1	160	1	0	0	0	0	1	0	0	0	629	912	32	5	3808	5	ANKHD1-EIF4EBP3	5	139887548	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	140224	139887548	41027712	351	87237											
PCDHA3	56145	broad.mit.edu	37	chr5	140182444	140182444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgtgacgctgcaggtgttCgtgctggacgagaacgacaa	14	9	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140182444C>T	uc003lhf.2	+	1	1662	c.1662C>T	c.(1660-1662)TTC>TTT	p.F554F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.F554F	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	554	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.687													T	140182444	C	T	140182444	2	4	160	1	0	0	0	0	0	0	0	1	11525	883	31	1		1	PCDHA3	5	140182444	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	294896	140182444	40732816	352	87238											
PCDHAC2	56134	broad.mit.edu	37	chr5	140250189	140250190	+	Frame_Shift_Del	DEL	CG	CG	-													tggagcggcggttgggcgacCgcgcgctgtcgagctacgtg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140250188_140250189CCG>C	uc003lia.2	+	0	2358_2359	c.1500_1501CCG>C	c.(1498-1503)gaccgcfs	p.D500fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Frame_Shift_Del_p.D500fs	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	515	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.K499K(1)		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)			GGTTGGGCGACCGCGCGCTGTC	0.678													-	140250190	CG	-	140250189	7	5	160	1	0	1	0	1	0	0	0	0	11533	652	23	0		0	PCDHAC2	5	140250189	Frame_Shift_Del	DEL	CG	TCGA-CD-A4MI-01A-21D-A25D-08	67745	140250189	40665071	353	87239											
PCDHA12	56137	broad.mit.edu	37	chr5	140255709	140255709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatggtaatcgatggcGgtaaaccagaactaacaggg	13	7	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140255709G>A	uc003lic.2	+	1	779	c.652G>A	c.(652-654)GGT>AGT	p.G218S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G218S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCGATGGCGGTAAACCAGA	0.398													A	140255709	G	A	140255709	3	1	160	1	0	0	0	0	1	0	0	0	11522	1116	39	1	654	1	PCDHA12	5	140255709	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5520	140255709	40659551	354	87240											
PCDHAC2	56134	broad.mit.edu	37	chr5	140389267	140389267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtgtcaacagcaacagCtggacctttaaatacggacc	11	11	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140389267C>A	uc003lii.2	+	4	3009	c.2769C>A	c.(2767-2769)AGC>AGA	p.S923R	PCDHA1_uc003lha.2_Missense_Mutation_p.S602R|PCDHA1_uc003lhb.2_Missense_Mutation_p.S866R|PCDHA2_uc003lhd.2_Missense_Mutation_p.S864R|PCDHA3_uc003lhf.2_Missense_Mutation_p.S866R|PCDHA4_uc003lhi.2_Missense_Mutation_p.S863R|PCDHA4_uc003lhh.1_Missense_Mutation_p.S863R|PCDHA5_uc003lhk.1_Missense_Mutation_p.S852R|PCDHA5_uc003lhl.2_Missense_Mutation_p.S852R|PCDHA6_uc003lhn.2_Missense_Mutation_p.S602R|PCDHA6_uc003lho.2_Missense_Mutation_p.S866R|PCDHA7_uc003lhq.2_Missense_Mutation_p.S853R|PCDHA8_uc003lhs.2_Missense_Mutation_p.S866R|PCDHA9_uc003lhu.2_Missense_Mutation_p.S866R|PCDHA10_uc003lhw.2_Missense_Mutation_p.S601R|PCDHA10_uc003lhx.2_Missense_Mutation_p.S864R|PCDHA11_uc003lia.2_Missense_Mutation_p.S865R|PCDHA12_uc003lic.2_Missense_Mutation_p.S857R|PCDHA13_uc003lie.1_Missense_Mutation_p.S866R|PCDHA13_uc003lif.2_Missense_Mutation_p.S866R|PCDHAC1_uc003lih.2_Missense_Mutation_p.S879R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	923	4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAACAGCTGGACCTTTA	0.502													A	140389267	C	A	140389267	3	1	160	1	0	0	0	0	1	0	0	0	11533	796	28	5	2871	5	PCDHAC2	5	140389267	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	133558	140389267	40525993	355	87241											
PCDHB9	56127	broad.mit.edu	37	chr5	140569061	140569061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggcggcctcggtgggtCgctgctcggtgcccgagggt	20	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140569061C>T	uc003liw.1	+	3	2170	c.2170C>T	c.(2170-2172)CGC>TGC	p.R724C	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGGGTCGCTGCTCGGT	0.667													T	140569061	C	T	140569061	3	4	160	1	0	0	0	0	1	0	0	0	11549	871	31	1	2171	1	PCDHB9	5	140569061	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	179794	140569061	40346199	356	87242											
PCDHB12	56124	broad.mit.edu	37	chr5	140589598	140589598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttcaggatacgagacagAgactctggggacaacggaaa	13	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140589598A>C	uc003liz.2	+	1	1308	c.1119A>C	c.(1117-1119)AGA>AGC	p.R373S	PCDHB12_uc011dak.1_Missense_Mutation_p.R36S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	373	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACGAGACAGAGACTCTGGGG	0.433													C	140589598	A	C	140589598	3	2	160	1	0	0	0	0	1	0	0	0	11537	301	11	5	1121	5	PCDHB12	5	140589598	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	20537	140589598	40325662	357	87243											
PCDHB13	56123	broad.mit.edu	37	chr5	140594909	140594909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttttacaccctactaaCggagagaccactagacagag	7	11	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140594909C>T	uc003lja.1	+	1	1401	c.1214C>T	c.(1213-1215)ACG>ATG	p.T405M		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	405	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTACTAACGGAGAGACCA	0.453													T	140594909	C	T	140594909	3	4	160	1	0	0	0	0	1	0	0	0	11538	536	19	1	1216	1	PCDHB13	5	140594909	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5311	140594909	40320351	358	87244											
PCDHGC5	56097	broad.mit.edu	37	chr5	140725098	140725098	+	Frame_Shift_Del	DEL	C	C	-													aggacactctccagggggcgCccctgtcctccttcgtctct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140725097_140725097GC>G	uc003ljm.2	+	0	1497	c.1497_1497GC>G	c.(1495-1497)gcgfs	p.A499fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Frame_Shift_Del_p.A499fs	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	501	Cadherin 5.				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)			TCCAGGGGGCGCCCCTGTCCT	0.542													-	140725098	C	-	140725098	7	5	160	1	0	1	0	1	0	0	0	0	11571	739	26	0		0	PCDHGC5	5	140725098	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	130189	140725098	40190162	359	87245											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764513	140764513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccttgagccctccgacGgtccttacaactatgacctc	8	16	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140764513G>A	uc003lka.1	+	1	2047	c.2047G>A	c.(2047-2049)GGT>AGT	p.G683S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.G683S|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	683	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTCCGACGGTCCTTACAA	0.627													A	140764513	G	A	140764513	3	1	160	1	0	0	0	0	1	0	0	0	11559	1116	39	1	2049	1	PCDHGA7	5	140764513	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	39415	140764513	40150747	360	87246											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764701	140764701	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactttgtgggcatggacggGgtgcaggctttcctgcagac	15	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140764701G>T	uc003lka.1	+	1	2235	c.2235G>T	c.(2233-2235)GGG>GGT	p.G745G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.G745G|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	745	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGACGGGGTGCAGGCTT	0.617													T	140764701	G	T	140764701	2	4	160	1	0	0	0	0	0	0	0	1	11559	1219	43	5		5	PCDHGA7	5	140764701	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	188	140764701	40150559	361	87247											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctcggccactgtcacgCtcacagtagccatagctgac	8	16	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140784497C>T	uc003lkh.1	+	1	1978	c.1978C>T	c.(1978-1980)CTC>TTC	p.L660F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.L660F	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	660	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACAGTAGC	0.602													T	140784497	C	T	140784497	3	4	160	1	0	0	0	0	1	0	0	0	11561	797	28	2	1980	2	PCDHGA9	5	140784497	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	19796	140784497	40130763	362	87248											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802769	140802769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccctctctcggccaccGtcacgctcaccgtggctgtg	10	19	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140802769G>A	uc003lkq.1	+	1	2233	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.V659I|PCDHGA11_uc003lkp.1_Intron	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	659	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGCCACCGTCACGCTCAC	0.672													A	140802769	G	A	140802769	3	1	160	1	0	0	0	0	1	0	0	0	11552	1145	40	1	1977	1	PCDHGA11	5	140802769	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	18272	140802769	40112491	363	87249											
ARAP3	64411	broad.mit.edu	37	chr5	141050954	141050954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttgggtcttgccacaGctgcacacagtgcctgcagg	14	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:141050954G>T	uc003llm.2	-	13	1946	c.1868C>A	c.(1867-1869)GCT>GAT	p.A623D	ARAP3_uc011dbe.1_Missense_Mutation_p.A285D|ARAP3_uc003lln.2_Missense_Mutation_p.A545D	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	623					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			breast(5)|ovary(1)|large_intestine(1)	7						TCTTGCCACAGCTGCACACAG	0.587													T	141050954	G	T	141050954	3	4	160	1	0	0	0	0	1	0	0	0	840	971	34	5	2850	5	ARAP3	5	141050954	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	248185	141050954	39864306	364	87250											
SH3RF2	153769	broad.mit.edu	37	chr5	145439617	145439617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcacgggggagcccgccCtcacgtgcatcagcaggggc	14	17	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:145439617C>A	uc003lnt.2	+	9	1982	c.1744C>A	c.(1744-1746)CTC>ATC	p.L582I	SH3RF2_uc011dbl.1_Missense_Mutation_p.L582I|SH3RF2_uc011dbm.1_Missense_Mutation_p.L67I|SH3RF2_uc003lnu.2_Missense_Mutation_p.L73I|SH3RF2_uc011dbn.1_Missense_Mutation_p.L73I|SH3RF2_uc011dbo.1_Missense_Mutation_p.L39I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	582							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGCCCGCCCTCACGTGCAT	0.627													A	145439617	C	A	145439617	3	1	160	1	0	0	0	0	1	0	0	0	14259	681	24	5	1774	5	SH3RF2	5	145439617	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4388663	145439617	35475643	365	87251											
SH3TC2	79628	broad.mit.edu	37	chr5	148386498	148386498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatacaccttggcatagtaCagggcctccttgggactctg	10	11	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:148386498C>T	uc003lpu.2	-	16	3773	c.3621G>A	c.(3619-3621)CTG>CTA	p.L1207L	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.L851L|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.L754L|SH3TC2_uc010jgx.2_Silent_p.L1200L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1207							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCATAGTACAGGGCCTCCT	0.552													T	148386498	C	T	148386498	2	4	160	1	0	0	0	0	0	0	0	1	14262	465	17	4		4	SH3TC2	5	148386498	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2946881	148386498	32528762	366	87252											
CAMK2A	815	broad.mit.edu	37	chr5	149602570	149602570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggggcaggacggagggcGccccagatctgtggaagtgg	19	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:149602570G>A	uc003lru.2	-	17	1630	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	CAMK2A_uc003lrs.2_Missense_Mutation_p.A183V|CAMK2A_uc003lrt.2_Missense_Mutation_p.A483V	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	472					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			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGAGGGCGCCCCAGATCT	0.642													A	149602570	G	A	149602570	3	1	160	1	0	0	0	0	1	0	0	0	2599	1087	38	1	29	1	CAMK2A	5	149602570	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1216072	149602570	31312690	367	87253											
GALNT10	55568	broad.mit.edu	37	chr5	153789220	153789220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagaaaaagctccgcagCtcccttaactgcaagagttt	8	12	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:153789220C>T	uc003lvh.2	+	9	1416	c.1284C>T	c.(1282-1284)AGC>AGT	p.S428S	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.S269S|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.S99S	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	428	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	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)			agctccgcagctcccttaact	0.328													T	153789220	C	T	153789220	2	4	160	1	0	0	0	0	0	0	0	1	6208	796	28	2		2	GALNT10	5	153789220	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4186650	153789220	27126040	368	87254											
NIPAL4	348938	broad.mit.edu	37	chr5	156899454	156899454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcatctgctctgtgaTcggggccttctctgtggctg	11	12	5	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:156899454T>C	uc003lwx.3	+	6	1003	c.887T>C	c.(886-888)ATC>ACC	p.I296T	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.I277T	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	296	Helical; (Potential).					integral to membrane	receptor activity				0						TGCTCTGTGATCGGGGCCTTC	0.557											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	156899454	T	C	156899454	3	2	160	1	0	0	0	0	1	0	0	0	10427	1435	50	3	909	3	NIPAL4	5	156899454	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	3110234	156899454	24015806	369	87255											
EBF1	1879	broad.mit.edu	37	chr5	158524021	158524021	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacaaacgctgtcctctcGatctccacgggctggccctg	9	18	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:158524021G>A	uc010jip.2	-	2	554	c.252C>T	c.(250-252)ATC>ATT	p.I84I	EBF1_uc011ddw.1_5'Flank|EBF1_uc011ddx.1_Silent_p.I84I|EBF1_uc003lxl.3_Silent_p.I84I	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	84					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	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)			CTGTCCTCTCGATCTCCACGG	0.627			T	HMGA2	lipoma								A	158524021	G	A	158524021	2	1	160	1	0	0	0	0	0	0	0	1	4880	1048	37	1		1	EBF1	5	158524021	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1624567	158524021	22391239	370	87256											
RNF145	153830	broad.mit.edu	37	chr5	158601022	158601022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaaaagaagcctctcacGtgatgcaggctgatctcgag	12	9	2	3	rs139327325		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:158601022G>A	uc003lxp.2	-	6	1079	c.766C>T	c.(766-768)CGT>TGT	p.R256C	RNF145_uc011ddy.1_Missense_Mutation_p.R270C|RNF145_uc003lxo.1_Missense_Mutation_p.R284C|RNF145_uc011ddz.1_Missense_Mutation_p.R273C|RNF145_uc010jiq.1_Missense_Mutation_p.R286C|RNF145_uc011dea.1_Missense_Mutation_p.R272C	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	256						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCTCTCACGTGATGCAGGC	0.368													A	158601022	G	A	158601022	3	1	160	1	0	0	0	0	1	0	0	0	13447	1145	40	1	1249	1	RNF145	5	158601022	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	77001	158601022	22314238	371	87257											
IL12B	3593	broad.mit.edu	37	chr5	158743807	158743807	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtggctgaggtcttgtcCgtgaagactctatctttctg	11	10	4	3	rs144356274		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:158743807C>A	uc003lxr.1	-	7	915	c.873G>T	c.(871-873)ACG>ACT	p.T291T		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	291	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTCTTGTCCGTGAAGACTC	0.517											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	158743807	C	A	158743807	2	1	160	1	0	0	0	0	0	0	0	1	7625	639	23	5		5	IL12B	5	158743807	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	142785	158743807	22171453	372	87258											
SLIT3	6586	broad.mit.edu	37	chr5	168187941	168187941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcattgtcattcagtcgCctgtgtaggaagcaagatga	10	9	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:168187941C>T	uc003mab.2	-	16	2031	c.1611G>A	c.(1609-1611)CTG>CTA	p.L537L	SLIT3_uc010jjg.2_Silent_p.L537L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	537	LRR 12.				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			ovary(3)|skin(1)	4	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)			CATTCAGTCGCCTGTGTAGGA	0.532													T	168187941	C	T	168187941	2	4	160	1	0	0	0	0	0	0	0	1	14741	753	26	2		2	SLIT3	5	168187941	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9444134	168187941	12727319	373	87259											
GABRP	2568	broad.mit.edu	37	chr5	170215633	170215633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcaacatgaactacagccTccacttggccttcgtgtgtc	7	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:170215633T>A	uc003mau.2	+	2	212	c.14T>A	c.(13-15)CTC>CAC	p.L5H	GABRP_uc011dev.1_Missense_Mutation_p.L5H	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	5						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	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)			AACTACAGCCTCCACTTGGCC	0.547													A	170215633	T	A	170215633	3	1	160	1	0	0	0	0	1	0	0	0	6174	1551	54	5	16	5	GABRP	5	170215633	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2027692	170215633	10699627	374	87260											
NSD1	64324	broad.mit.edu	37	chr5	176673788	176673788	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcgtcaaaagagattccAggctcagaggtattactcag	10	9	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:176673788A>G	uc003mfr.3	+	10	4626	c.4488A>G	c.(4486-4488)CCA>CCG	p.P1496P	NSD1_uc003mft.3_Silent_p.P1227P|NSD1_uc003mfs.1_Silent_p.P1393P|NSD1_uc011dfx.1_Silent_p.P1144P	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1496					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			ovary(2)|kidney(1)	3	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)		AAGAGATTCCAGGCTCAGAGG	0.428			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			G	176673788	A	G	176673788	2	3	160	1	0	0	0	0	0	0	0	1	10669	175	7	3		3	NSD1	5	176673788	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	6458155	176673788	4241472	375	87261											
RGS14	10636	broad.mit.edu	37	chr5	176793200	176793200	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcagcacgacggggccCcagggccagggcgagggccg	19	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:176793200C>A	uc003mgf.2	+	3	272	c.90C>A	c.(88-90)CCC>CCA	p.P30P	RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	30					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	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)			CGACGGGGCCCCAGGGCCAGG	0.692													A	176793200	C	A	176793200	2	1	160	1	0	0	0	0	0	0	0	1	13297	610	22	5		5	RGS14	5	176793200	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	119412	176793200	4122060	376	87262											
ADAMTS2	9509	broad.mit.edu	37	chr5	178557097	178557097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtctccaggttcttgaCggctgagaatggcaagacca	12	11	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:178557097C>T	uc003mjw.2	-	16	2293	c.2293G>A	c.(2293-2295)GTC>ATC	p.V765I		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	765	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		AGGTTCTTGACGGCTGAGAAT	0.567													T	178557097	C	T	178557097	3	4	160	1	0	0	0	0	1	0	0	0	265	536	19	1	1370	1	ADAMTS2	5	178557097	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1763897	178557097	2358163	377	87263											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290809	179290810	+	Frame_Shift_Ins	INS	-	-	C													gccctgtccctcgccgctgcINSccccctccaccaccacctgg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:179290808_179290809G>GC	uc003mlh.3	-	21	3427_3428	c.3392_3393C>GC	c.(3391-3393)ggcfs	p.G1131fs	TBC1D9B_uc003mli.3_Frame_Shift_Ins_p.G1114fs|TBC1D9B_uc003mlj.3_Frame_Shift_Ins_p.G1113fs|TBC1D9B_uc003mlf.3_Frame_Shift_Ins_p.G205fs|TBC1D9B_uc003mlg.3_Frame_Shift_Ins_p.G290fs|TBC1D9B_uc011dgv.2_Frame_Shift_Ins_p.G290fs	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	1131						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			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)			CCTCGCCGCTGCCCCCCTCCAC	0.644													C	179290810	-	C	179290809	7	5	160	1	0	1	1	0	0	0	0	0	15625	739	26	0	364	0	TBC1D9B	5	179290809	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	733712	179290809	1624451	378	87264											
FLT4	2324	broad.mit.edu	37	chr5	180043407	180043407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtctttgtagatgtccCgggcaaggccaaagtcacag	14	10	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:180043407C>T	uc003mma.3	-	23	3258	c.3179G>A	c.(3178-3180)CGG>CAG	p.R1060Q	FLT4_uc003mlz.3_Missense_Mutation_p.R1060Q	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1060	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	GTAGATGTCCCGGGCAAGGCC	0.612									Congenital_Hereditary_Lymphedema				T	180043407	C	T	180043407	3	4	160	1	0	0	0	0	1	0	0	0	5944	652	23	1	952	1	FLT4	5	180043407	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	752598	180043407	871853	379	87265											
TRIM41	90933	broad.mit.edu	37	chr5	180661483	180661483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcgccatcaccatcgccGccgccggctccacctgcccc	8	24	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:180661483G>A	uc003mne.1	+	6	2295	c.1601G>A	c.(1600-1602)CGC>CAC	p.R534H	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_Missense_Mutation_p.R114H	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	534	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|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)			CACCATCGCCGCCGCCGGCTC	0.667													A	180661483	G	A	180661483	3	1	160	1	0	0	0	0	1	0	0	0	16513	1087	38	1	1623	1	TRIM41	5	180661483	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	618076	180661483	253777	380	87266											
HUS1B	135458	broad.mit.edu	37	chr6	656464	656464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcagcgtcctccagcGcggcaggcggatgctcgcgt	14	16	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:656464G>A	uc003mtg.2	-	1	501	c.481C>T	c.(481-483)CGC>TGC	p.R161C	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	161											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GTCCTCCAGCGCGGCAGGCGG	0.667													A	656464	G	A	656464	3	1	160	1	0	0	0	0	1	0	0	0	7460	1087	38	1	359	1	HUS1B	6	656464	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		656464	170458603	381	87267											
C6orf146	222826	broad.mit.edu	37	chr6	4069468	4069468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagttttggctgtctcActtttggtgtagctttggag	12	7	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:4069468A>G	uc003mvx.2	-	7	1329	c.989T>C	c.(988-990)GTG>GCG	p.V330A	C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.V267A	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826	330										ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGGCTGTCTCACTTTTGGTGT	0.393													G	4069468	A	G	4069468	3	3	160	1	0	0	0	0	1	0	0	0	2335	159	6	3	541	3	C6orf146	6	4069468	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	3413004	4069468	167045599	382	87268											
RIOK1	83732	broad.mit.edu	37	chr6	7393491	7393491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgggatgaaggagttggAaaactcgccaagggttatgt	15	5	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:7393491A>G	uc003mxn.2	+	2	405	c.231A>G	c.(229-231)GGA>GGG	p.G77G	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	77							ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					AAGGAGTTGGAAAACTCGCCA	0.289													G	7393491	A	G	7393491	2	3	160	1	0	0	0	0	0	0	0	1	13377	233	9	3		3	RIOK1	6	7393491	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	3324023	7393491	163721576	383	87269											
DSP	1832	broad.mit.edu	37	chr6	7583718	7583718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtcgacagtgccatagctCgggacctcattgacttcgat	10	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:7583718C>T	uc003mxp.1	+	24	6502	c.6223C>T	c.(6223-6225)CGG>TGG	p.R2075W	DSP_uc003mxq.1_Missense_Mutation_p.R1476W	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2075	Plectin 2.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCATAGCTCGGGACCTCAT	0.483													T	7583718	C	T	7583718	3	4	160	1	0	0	0	0	1	0	0	0	4781	875	31	1	6317	1	DSP	6	7583718	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	190227	7583718	163531349	384	87270											
DSP	1832	broad.mit.edu	37	chr6	7585144	7585144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgatcagtaccgatccgGcagcctcagcctcactcaat	7	15	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:7585144G>T	uc003mxp.1	+	24	7928	c.7649G>T	c.(7648-7650)GGC>GTC	p.G2550V	DSP_uc003mxq.1_Missense_Mutation_p.G1951V	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2550	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGATCCGGCAGCCTCAGC	0.483													T	7585144	G	T	7585144	3	4	160	1	0	0	0	0	1	0	0	0	4781	1203	42	5	7743	5	DSP	6	7585144	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1426	7585144	163529923	385	87271											
MAK	4117	broad.mit.edu	37	chr6	10764752	10764752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggaatgggctgtgcaCggttcacaatatttaggttt	13	6	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:10764752C>T	uc003mzl.2	-	13	2034	c.1805G>A	c.(1804-1806)CGT>CAT	p.R602H	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.R602H	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	602					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GGGCTGTGCACGGTTCACAAT	0.478													T	10764752	C	T	10764752	3	4	160	1	0	0	0	0	1	0	0	0	9197	536	19	1	70	1	MAK	6	10764752	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3179608	10764752	160350315	386	87272											
MAK	4117	broad.mit.edu	37	chr6	10796273	10796273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggaatagcgtttgtggCggtttctcctgactctgttg	13	9	2	1	rs141174473	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:10796273C>T	uc003mzl.2	-	8	1330	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.P367P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	367	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCGTTTGTGGCGGTTTCTCCT	0.498													T	10796273	C	T	10796273	2	4	160	1	0	0	0	0	0	0	0	1	9197	755	27	1		1	MAK	6	10796273	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	31521	10796273	160318794	387	87273											
ERVFRDE1	405754	broad.mit.edu	37	chr6	11105044	11105044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaatcttggttgatggCggaattggttgtgggtgtat	18	2	1	1	rs140934168		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:11105044C>T	uc003mzt.2	-	2	870	c.500G>A	c.(499-501)CGC>CAC	p.R167H	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFRD1_HUMAN	syncytin 2	167	Extracellular (Potential).					integral to membrane|plasma membrane|virion					0						TGGTTGATGGCGGAATTGGTT	0.443													T	11105044	C	T	11105044	3	4	160	1	0	0	0	0	1	0	0	0	5246	768	27	1	1120	1	ERVFRDE1	6	11105044	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	308771	11105044	160010023	388	87274											
CD83	9308	broad.mit.edu	37	chr6	14133942	14133942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggagattgtcctgctgCtggctctggttattttctac	12	9	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:14133942C>T	uc003nbi.2	+	4	623	c.445C>T	c.(445-447)CTG>TTG	p.L149L	CD83_uc003nbh.2_Silent_p.L149L	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	149	Helical; (Potential).				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TGTCCTGCTGCTGGCTCTGGT	0.378													T	14133942	C	T	14133942	2	4	160	1	0	0	0	0	0	0	0	1	3041	796	28	2		2	CD83	6	14133942	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3028898	14133942	156981125	389	87275											
DTNBP1	84062	broad.mit.edu	37	chr6	15638038	15638038	+	Splice_Site	DEL	A	A	-													gcccatgtatcctcatacctAaaaaaaagcaaaaaataatt					rs140124163		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome				-	15638038	A	-	15638038	8	5	160	1	0	1	0	1	0	0	1	0	4790	377	13	0		0	DTNBP1	6	15638038	Splice_Site	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	1504096	15638038	155477029	390	87276											
ATXN1	6310	broad.mit.edu	37	chr6	16328505	16328505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcgcgcttcttgggagGcaggcattcgttgctccgct	13	12	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:16328505G>A	uc003nbt.2	-	8	1008	c.37C>T	c.(37-39)CCT>TCT	p.P13S	ATXN1_uc010jpi.2_Missense_Mutation_p.P13S|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	13					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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCTTGGGAGGCAGGCATTCG	0.602													A	16328505	G	A	16328505	3	1	160	1	0	0	0	0	1	0	0	0	1209	1203	42	2	2418	2	ATXN1	6	16328505	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	690467	16328505	154786562	391	87277											
ZNF165	7718	broad.mit.edu	37	chr6	28056560	28056560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgaaggttttggtaAaatcctcacccacaaaaata	7	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:28056560A>G	uc003nkg.2	+	5	1854	c.770A>G	c.(769-771)AAA>AGA	p.K257R	ZNF165_uc003nkh.2_Missense_Mutation_p.K257R|ZNF165_uc003nki.3_Missense_Mutation_p.K257R|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	257					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGTTTTGGTAAAATCCTCACC	0.428													G	28056560	A	G	28056560	3	3	160	1	0	0	0	0	1	0	0	0	17737	14	1	3	780	3	ZNF165	6	28056560	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	11728055	28056560	143058507	392	87278											
TRIM26	7726	broad.mit.edu	37	chr6	30166872	30166872	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctccgtagtggggctgaCgtggccatggtatccttagt	15	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:30166872C>A	uc003npr.2	-	3	218	c.9G>T	c.(7-9)ACG>ACT	p.T3T	TRIM26_uc003nps.2_Silent_p.T3T|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Silent_p.T3T|TRIM26_uc003npu.1_Silent_p.T3T	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	3							DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GTGGGGCTGACGTGGCCATGG	0.557													A	30166872	C	A	30166872	2	1	160	1	0	0	0	0	0	0	0	1	16497	523	19	5		5	TRIM26	6	30166872	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2110312	30166872	140948195	393	87279											
PPP1R10	5514	broad.mit.edu	37	chr6	30570240	30570240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggggtcctcctccagagCgacctcctctggcgcctcgg	13	16	1	1	rs142321584		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:30570240C>T	uc003nqn.1	-	19	2738	c.2186G>A	c.(2185-2187)CGC>CAC	p.R729H	PPP1R10_uc010jsc.1_Missense_Mutation_p.R383H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	729	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TCCTCCAGAGCGACCTCCTCT	0.597													T	30570240	C	T	30570240	3	4	160	1	0	0	0	0	1	0	0	0	12352	768	27	1	644	1	PPP1R10	6	30570240	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	403368	30570240	140544827	394	87280											
DDR1	780	broad.mit.edu	37	chr6	30863251	30863251	+	Frame_Shift_Del	DEL	C	C	-													cgtccccctcgaggcccgggCccccccacacccgcctgggc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:30863250_30863250GC>G	uc003nrv.3	+	10	1625	c.1583_1583GC>G	c.(1582-1584)ggcfs	p.G528fs	DDR1_uc010jse.3_Intron|DDR1_uc003nrq.3_Intron|DDR1_uc003nrr.3_Frame_Shift_Del_p.G528fs|DDR1_uc003nrs.3_Frame_Shift_Del_p.G528fs|DDR1_uc003nrt.3_Intron|DDR1_uc011dms.2_Intron|DDR1_uc003nru.3_Intron|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Frame_Shift_Del_p.A300fs	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	528	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)	CGAGGCCCGGGCCCCCCCACA	0.687													-	30863251	C	-	30863251	7	5	160	1	0	1	0	1	0	0	0	0	4336	726	26	0	1626	0	DDR1	6	30863251	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	293011	30863251	140251816	395	87281											
HSPA1L	3305	broad.mit.edu	37	chr6	31779132	31779132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaattgacacatcaaaTgtgcctccacccagatcaaa	6	12	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:31779132T>C	uc003nxh.2	-	2	801	c.618A>G	c.(616-618)ACA>ACG	p.T206T	HSPA1L_uc010jte.2_Silent_p.T206T	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	206					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						ACACATCAAATGTGCCTCCAC	0.488													C	31779132	T	C	31779132	2	2	160	1	0	0	0	0	0	0	0	1	7410	1451	51	3		3	HSPA1L	6	31779132	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	915881	31779132	139335935	396	87282											
HSPA1L	3305	broad.mit.edu	37	chr6	31779627	31779627	+	Frame_Shift_Del	DEL	G	G	-													tctgtgaaggccacgtagctGggggtggtgcggttgccctg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:31779626_31779626TG>T	uc003nxh.3	-	1	307	c.124_124CA>A	c.(124-126)agcfs	p.S42fs	HSPA1L_uc010jte.3_Frame_Shift_Del_p.S42fs|HSPA1L_uc021yuz.1_Frame_Shift_Del_p.S42fs	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	42					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						GCCACGTAGCTGGGGGTGGTG	0.582													-	31779627	G	-	31779627	7	5	160	1	0	1	0	1	0	0	0	0	7410	1335	47	0	1806	0	HSPA1L	6	31779627	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	495	31779627	139335440	397	87283											
CYP21A2	1589	broad.mit.edu	37	chr6	31975180	31975180	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcagtggacctcctgatCggtggcactgagaccacagc	13	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:31975180C>T	uc010jtp.2	+	8	991	c.873C>T	c.(871-873)ATC>ATT	p.I291I	CYP21A2_uc011dpb.1_Silent_p.I261I			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	290					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						ACCTCCTGATCGGTGGCACTG	0.597													T	31975180	C	T	31975180	2	4	160	1	0	0	0	0	0	0	0	1	4153	874	31	1		1	CYP21A2	6	31975180	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	195553	31975180	139139887	398	87284											
CYP21A2	1589	broad.mit.edu	37	chr6	32007916	32007916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcagtggacctcctgatCggtggcactgagaccacagc	13	13	0	2	rs143877763	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:32007916C>T	uc003nze.1	+	7	991	c.873C>T	c.(871-873)ATC>ATT	p.I291I	CYP21A2_uc003nzf.1_Silent_p.I261I	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	290					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						ACCTCCTGATCGGTGGCACTG	0.607													T	32007916	C	T	32007916	2	4	160	1	0	0	0	0	0	0	0	1	4153	874	31	1		1	CYP21A2	6	32007916	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	32736	32007916	139107151	399	87285											
PBX2	5089	broad.mit.edu	37	chr6	32155040	32155040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaggaagggggtgtcgGggagctggtgcggctgtggc	23	6	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:32155040G>T	uc003oav.1	-	6	1274	c.1003C>A	c.(1003-1005)CCG>ACG	p.P335T	PBX2_uc003oaw.2_Missense_Mutation_p.P335T	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	335							transcription factor binding			ovary(1)	1						GGGGGTGTCGGGGAGCTGGTG	0.552													T	32155040	G	T	32155040	3	4	160	1	0	0	0	0	1	0	0	0	11493	1232	43	5	305	5	PBX2	6	32155040	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	147124	32155040	138960027	400	87286											
BTNL2	56244	broad.mit.edu	37	chr6	32364033	32364033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgcacagcagggtaAcggtgggatcggtcccacct	12	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:32364033A>G	uc003obg.1	-	5	861	c.861T>C	c.(859-861)CGT>CGC	p.R287R	BTNL2_uc010jty.1_Silent_p.R10R|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.R77R	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2	287	Extracellular (Potential).|Ig-like V-type 3.					integral to membrane				central_nervous_system(1)	1						CAGCAGGGTAACGGTGGGATC	0.557													G	32364033	A	G	32364033	2	3	160	1	0	0	0	0	0	0	0	1	1565	30	2	3		3	BTNL2	6	32364033	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	208993	32364033	138751034	401	87287											
GRM4	2914	broad.mit.edu	37	chr6	34003601	34003601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgcacgtgaccatgagCagcatgctgtagcccagcag	13	12	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:34003601C>T	uc003oir.3	-	8	2456	c.2286G>A	c.(2284-2286)CTG>CTA	p.L762L	GRM4_uc011dsn.1_Silent_p.L715L|GRM4_uc010jvh.2_Silent_p.L762L|GRM4_uc010jvi.2_Silent_p.L454L|GRM4_uc003oio.2_Silent_p.L454L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L622L|GRM4_uc003oiq.2_Silent_p.L629L|GRM4_uc011dsm.1_Silent_p.L593L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	762	Helical; Name=5; (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TGACCATGAGCAGCATGCTGT	0.602													T	34003601	C	T	34003601	2	4	160	1	0	0	0	0	0	0	0	1	6799	697	25	2		2	GRM4	6	34003601	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1639568	34003601	137111466	402	87288											
ETV7	51513	broad.mit.edu	37	chr6	36339255	36339255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggtcatccaggtgGccgaagttgctggtaagccc	15	11	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:36339255G>A	uc003omb.2	-	5	665	c.516C>T	c.(514-516)GGC>GGT	p.G172G	ETV7_uc003olz.1_Silent_p.G172G|ETV7_uc003oma.1_Silent_p.G117G|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Silent_p.G117G|ETV7_uc010jwj.2_Silent_p.G113G|ETV7_uc010jwh.2_Silent_p.G91G|ETV7_uc010jwi.2_Intron|ETV7_uc011dtl.1_Silent_p.G21G	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	172					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CATCCAGGTGGCCGAAGTTGC	0.632													A	36339255	G	A	36339255	2	1	160	1	0	0	0	0	0	0	0	1	5284	1190	42	2		2	ETV7	6	36339255	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2335654	36339255	134775812	403	87289											
DNAH8	1769	broad.mit.edu	37	chr6	38800181	38800181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagtttttcgtgaggaCgtgataaactttgcagaagc	13	5	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:38800181C>T	uc003ooe.1	+	29	4221	c.3621C>T	c.(3619-3621)GAC>GAT	p.D1207D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTCGTGAGGACGTGATAAACT	0.333													T	38800181	C	T	38800181	2	4	160	1	0	0	0	0	0	0	0	1	4607	535	19	1		1	DNAH8	6	38800181	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2460926	38800181	132314886	404	87290											
KIF6	221458	broad.mit.edu	37	chr6	39688506	39688506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctttctcgcttattatTcacaaacccatctgccaaat	4	12	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:39688506T>C	uc003oot.2	-	2	243	c.148A>G	c.(148-150)AAT>GAT	p.N50D	KIF6_uc011dua.1_Missense_Mutation_p.N50D|KIF6_uc010jxb.1_Missense_Mutation_p.N50D	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	50	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						CGCTTATTATTCACAAACCCA	0.308													C	39688506	T	C	39688506	3	2	160	1	0	0	0	0	1	0	0	0	8308	1783	62	3	2384	3	KIF6	6	39688506	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	888325	39688506	131426561	405	87291											
MOCS1	4337	broad.mit.edu	37	chr6	39877589	39877589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacttacctgcatgctgCcgcttcttcctgcccacagc	7	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:39877589C>T	uc003opb.2	-	8	1230	c.1092G>A	c.(1090-1092)CGG>CGA	p.R364R	MOCS1_uc003opa.2_Silent_p.R364R|MOCS1_uc003opc.2_Silent_p.R364R|MOCS1_uc003opd.2_Silent_p.R364R|MOCS1_uc003ope.2_Silent_p.R277R	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	364	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGCATGCTGCCGCTTCTTCC	0.617													T	39877589	C	T	39877589	2	4	160	1	0	0	0	0	0	0	0	1	9690	726	26	2		2	MOCS1	6	39877589	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	189083	39877589	131237478	406	87292											
MED20	9477	broad.mit.edu	37	chr6	41884548	41884548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaagggtagaggcggcCgtatggtaagtctcacagtc	14	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:41884548C>T	uc003ork.2	-	2	265	c.144G>A	c.(142-144)ACG>ACA	p.T48T	MED20_uc003orj.2_5'UTR|MED20_uc011duh.1_Silent_p.T48T|MED20_uc011dui.1_RNA|MED20_uc011duj.1_Intron	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Trf (TATA binding protein-related	48					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding				0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGAGGCGGCCGTATGGTAAG	0.493													T	41884548	C	T	41884548	2	4	160	1	0	0	0	0	0	0	0	1	9438	639	23	1		1	MED20	6	41884548	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2006959	41884548	129230519	407	87293											
CUL7	9820	broad.mit.edu	37	chr6	43018788	43018788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcataatcatccagcatcCgcactcgcatccccggctgc	6	19	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:43018788C>T	uc003otq.2	-	4	1454	c.1151G>A	c.(1150-1152)CGG>CAG	p.R384Q	CUL7_uc011dvb.1_Missense_Mutation_p.R468Q|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	384	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			ATCCAGCATCCGCACTCGCAT	0.567													T	43018788	C	T	43018788	3	4	160	1	0	0	0	0	1	0	0	0	4060	652	23	1	4037	1	CUL7	6	43018788	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1134240	43018788	128096279	408	87294											
TTBK1	84630	broad.mit.edu	37	chr6	43250532	43250532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctctgagtctgccctAccaggacttcaaaagagacc	9	13	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:43250532A>G	uc003ouq.1	+	14	2333	c.2054A>G	c.(2053-2055)TAC>TGC	p.Y685C		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	685	Potential.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGTCTGCCCTACCAGGACTTC	0.617													G	43250532	A	G	43250532	3	3	160	1	0	0	0	0	1	0	0	0	16673	391	14	3	2104	3	TTBK1	6	43250532	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	231744	43250532	127864535	409	87295											
ZNF318	24149	broad.mit.edu	37	chr6	43305046	43305046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaccaaattcagagggtcGccactgtcatcatctacttg	7	11	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:43305046G>A	uc003oux.2	-	10	6768	c.6690C>T	c.(6688-6690)GGC>GGT	p.G2230G	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2230					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAGAGGGTCGCCACTGTCAT	0.478													A	43305046	G	A	43305046	2	1	160	1	0	0	0	0	0	0	0	1	17833	1074	38	1		1	ZNF318	6	43305046	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	54514	43305046	127810021	410	87296											
AARS2	57505	broad.mit.edu	37	chr6	44271116	44271116	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccccacggcctcctgCacagtgttctccactgcccg	8	20	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44271116C>A	uc010jza.1	-	15	2055	c.2052G>T	c.(2050-2052)GTG>GTT	p.V684V	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	684					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	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)	CGGCCTCCTGCACAGTGTTCT	0.627													A	44271116	C	A	44271116	2	1	160	1	0	0	0	0	0	0	0	1	20	697	25	5		5	AARS2	6	44271116	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	966070	44271116	126843951	411	87297											
SPATS1	221409	broad.mit.edu	37	chr6	44336141	44336142	+	Frame_Shift_Ins	INS	-	-	A													atcccaggaatggaatcccaINSaagttaactccaggcgacaa							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44336140_44336141C>CA	uc021yzz.1	+	5	700_701	c.599_600C>CA	c.(598-600)ccafs	p.P200fs	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Frame_Shift_Ins_p.P85fs|SPATS1_uc003oxk.3_Frame_Shift_Ins_p.P200fs	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	200										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)			AATGGAATCCCAAAGTTAACTC	0.411													A	44336142	-	A	44336141	7	5	160	1	0	1	1	0	0	0	0	0	15017	117	5	0	618	0	SPATS1	6	44336141	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	65025	44336141	126778926	412	87298											
CDC5L	988	broad.mit.edu	37	chr6	44371656	44371656	+	Frame_Shift_Del	DEL	A	A	-													taatgccgaaatcccatttgAaaaaaagcctgcccttggtt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44371655_44371655GA>G	uc003oxl.3	+	5	959	c.649_649GA>G	c.(649-651)gaafs	p.E217fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	217					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)			AATCCCATTTGAAAAAAAGCC	0.398													-	44371656	A	-	44371656	7	5	160	1	0	1	0	1	0	0	0	0	3082	246	9	0	672	0	CDC5L	6	44371656	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	35515	44371656	126743411	413	87299											
CDC5L	988	broad.mit.edu	37	chr6	44376246	44376246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaattgcacgtcaaacTgccgaggaatctggcataac	10	9	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44376246T>C	uc003oxl.2	+	8	1228	c.969T>C	c.(967-969)ACT>ACC	p.T323T		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	323	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			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGTCAAACTGCCGAGGAAT	0.418													C	44376246	T	C	44376246	2	2	160	1	0	0	0	0	0	0	0	1	3082	1567	55	3		3	CDC5L	6	44376246	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4590	44376246	126738821	414	87300											
PLA2G7	7941	broad.mit.edu	37	chr6	46677119	46677119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgctccaccaaaagaatGtccaattactgctatttttt	5	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:46677119G>A	uc010jzf.2	-	9	1083	c.814C>T	c.(814-816)CAT>TAT	p.H272Y	PLA2G7_uc010jzg.1_Missense_Mutation_p.H272Y	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	272					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			CCAAAAGAATGTCCAATTACT	0.313													A	46677119	G	A	46677119	3	1	160	1	0	0	0	0	1	0	0	0	12009	1377	48	4	527	4	PLA2G7	6	46677119	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2300873	46677119	124437948	415	87301											
TFAP2D	83741	broad.mit.edu	37	chr6	50683193	50683193	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagaggcgggagctggGctgcctcgatgcctaccgcc	16	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:50683193G>C	uc003paf.2	+	2	916	c.404G>C	c.(403-405)GGC>GCC	p.G135A	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	135							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CGGGAGCTGGGCTGCCTCGAT	0.622													C	50683193	G	C	50683193	3	2	160	1	0	0	0	0	1	0	0	0	15787	1203	42	5	410	5	TFAP2D	6	50683193	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4006074	50683193	120431874	416	87302											
PKHD1	5314	broad.mit.edu	37	chr6	51613339	51613339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgcatgaatgcccccGccacagctctggtgcagagt	12	14	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:51613339G>A	uc003pah.1	-	58	9351	c.9075C>T	c.(9073-9075)GGC>GGT	p.G3025G	PKHD1_uc010jzn.1_Silent_p.G1008G|PKHD1_uc003pai.2_Silent_p.G3025G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3025	Extracellular (Potential).|PbH1 7.				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GAATGCCCCCGCCACAGCTCT	0.458													A	51613339	G	A	51613339	2	1	160	1	0	0	0	0	0	0	0	1	11971	1074	38	1		1	PKHD1	6	51613339	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	930146	51613339	119501728	417	87303											
COL12A1	1303	broad.mit.edu	37	chr6	75799878	75799878	+	Frame_Shift_Del	DEL	C	C	-													gtgcccgggaagcctggccgCcccccaggcccaggttctcc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:75799877_75799877GC>G	uc021zbv.1	-	61	8925	c.8890_8890GC>C	c.(8890-8892)cggfs	p.R2964fs	COL12A1_uc021zbw.1_Frame_Shift_Del_p.R1800fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.R2964fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.R1800fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2964	Triple-helical region (COL1) with 2 imperfections.				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						AAGCCTGGCCGCCCCCCAGGC	0.617													-	75799878	C	-	75799878	7	5	160	1	0	1	0	1	0	0	0	0	3669	726	26	0	318	0	COL12A1	6	75799878	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	24186539	75799878	95315189	418	87304											
MYO6	4646	broad.mit.edu	37	chr6	76564979	76564979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctaacaacagcaggggGcaccaaaggaacagttataa	10	9	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:76564979G>A	uc003pih.1	+	12	1481	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D	MYO6_uc003pig.1_Missense_Mutation_p.G401D|MYO6_uc003pii.1_Missense_Mutation_p.G401D	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	401	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			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACAGCAGGGGGCACCAAAGGA	0.383													A	76564979	G	A	76564979	3	1	160	1	0	0	0	0	1	0	0	0	10081	1203	42	2	1244	2	MYO6	6	76564979	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	765101	76564979	94550088	419	87305											
MYO6	4646	broad.mit.edu	37	chr6	76623846	76623846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatgaaccgacagcaacGcttcttccgcatcccattca	6	14	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:76623846G>A	uc003pih.1	+	34	3785	c.3506G>A	c.(3505-3507)CGC>CAC	p.R1169H	MYO6_uc003pii.1_Missense_Mutation_p.R1146H|MYO6_uc003pij.1_Missense_Mutation_p.R117H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1178					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			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CGACAGCAACGCTTCTTCCGC	0.498													A	76623846	G	A	76623846	3	1	160	1	0	0	0	0	1	0	0	0	10081	1087	38	1	3636	1	MYO6	6	76623846	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	58867	76623846	94491221	420	87306											
LCA5	167691	broad.mit.edu	37	chr6	80196842	80196843	+	Frame_Shift_Ins	INS	-	-	A													acttcttccttcactgaggaINSaaaagccttcatcttcatca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:80196841_80196842G>GA	uc003piy.3	-	8	2585_2586	c.1973_1974C>TC	c.(1972-1974)ttcfs	p.F658fs	LCA5_uc003pix.3_Frame_Shift_Ins_p.F658fs	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	658					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)		CTTCACTGAGGAAAAAGCCTTC	0.396													A	80196843	-	A	80196842	7	5	160	1	0	1	1	0	0	0	0	0	8656	246	9	0	124	0	LCA5	6	80196842	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	3572996	80196842	90918225	421	87307											
IBTK	25998	broad.mit.edu	37	chr6	82911177	82911177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagatccttcaaaacacCatcgcttaaaacatcaagag	5	10	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:82911177C>T	uc003pjl.1	-	19	3279	c.2752G>A	c.(2752-2754)GGT>AGT	p.G918S	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.G918S|IBTK_uc011dyw.1_Missense_Mutation_p.G717S|IBTK_uc010kbi.1_Missense_Mutation_p.G612S|IBTK_uc003pjm.2_Missense_Mutation_p.G918S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	918					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		TTCAAAACACCATCGCTTAAA	0.318													T	82911177	C	T	82911177	3	4	160	1	0	0	0	0	1	0	0	0	7476	594	21	4	1353	4	IBTK	6	82911177	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2714335	82911177	88203890	422	87308											
ZNF292	23036	broad.mit.edu	37	chr6	87964573	87964573	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtattatgctgtggaaatgtTgtataatcagccagaccaga	10	6	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:87964573T>A	uc003plm.3	+	8	1267	c.1226T>A	c.(1225-1227)TTG>TAG	p.L409*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		GTGGAAATGTTGTATAATCAG	0.378													A	87964573	T	A	87964573	4	1	160	1	0	0	0	0	0	1	0	0	17823	1821	63	5	1256	5	ZNF292	6	87964573	Nonsense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	5053396	87964573	83150494	423	87309											
MDN1	23195	broad.mit.edu	37	chr6	90366466	90366466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccaactgggcaatgaAattcgattcatggccttctg	12	9	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:90366466A>C	uc003pnn.1	-	91	15354	c.15238T>G	c.(15238-15240)TTC>GTC	p.F5080V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5080					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		TGGGCAATGAAATTCGATTCA	0.458													C	90366466	A	C	90366466	3	2	160	1	0	0	0	0	1	0	0	0	9415	14	1	5	1600	5	MDN1	6	90366466	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2401893	90366466	80748601	424	87310											
MANEA	79694	broad.mit.edu	37	chr6	96034484	96034484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgaactattcatttggggAaaaattttgatttccaaaag	7	5	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:96034484A>G	uc003poo.1	+	2	309	c.169A>G	c.(169-171)AAA>GAA	p.K57E	MANEA_uc003pon.2_Missense_Mutation_p.K57E	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	57	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		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)		TCATTTGGGGAAAAATTTTGA	0.358													G	96034484	A	G	96034484	3	3	160	1	0	0	0	0	1	0	0	0	9221	247	9	3	171	3	MANEA	6	96034484	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	5668018	96034484	75080583	425	87311											
KLHL32	114792	broad.mit.edu	37	chr6	97562303	97562303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatattgccccaagaagaaCaaatggacttttgttcagtc	8	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:97562303C>A	uc010kcm.1	+	7	1744	c.1272C>A	c.(1270-1272)AAC>AAA	p.N424K	KLHL32_uc003poy.2_Missense_Mutation_p.N424K|KLHL32_uc011ead.1_Missense_Mutation_p.N388K|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.N355K|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	424	Kelch 3.									ovary(3)|skin(1)	4		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)		CCAAGAAGAACAAATGGACTT	0.473													A	97562303	C	A	97562303	3	1	160	1	0	0	0	0	1	0	0	0	8386	477	17	5	1294	5	KLHL32	6	97562303	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1527819	97562303	73552764	426	87312											
ASCC3	10973	broad.mit.edu	37	chr6	101086686	101086686	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtgattggtaaaggctgaaGatccagtaattctgaaaaga	11	4	1	5			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:101086686G>C	uc003pqk.2	-	25	4242	c.3913C>G	c.(3913-3915)CTT>GTT	p.L1305V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		AAAGGCTGAAGATCCAGTAAT	0.348													C	101086686	G	C	101086686	3	2	160	1	0	0	0	0	1	0	0	0	1033	942	33	5	2767	5	ASCC3	6	101086686	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3524383	101086686	70028381	427	87313											
PRDM1	639	broad.mit.edu	37	chr6	106555298	106555298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgaagttgcctcccagCaacccactacctctggtacc	6	17	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:106555298C>T	uc003prd.2	+	7	2649	c.2415C>T	c.(2413-2415)AGC>AGT	p.S805S	PRDM1_uc003pre.2_Silent_p.S671S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	805					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	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)		TGCCTCCCAGCAACCCACTAC	0.418			D|N|Mis|F|S		DLBCL								T	106555298	C	T	106555298	2	4	160	1	0	0	0	0	0	0	0	1	12450	709	25	2		2	PRDM1	6	106555298	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5468612	106555298	64559769	428	87314											
BEND3	57673	broad.mit.edu	37	chr6	107390934	107390934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtcgccttcactgccCgcgtccagccccaggccctc	13	19	1	0	rs143332621		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:107390934C>T	uc003prs.2	-	5	2111	c.1461G>A	c.(1459-1461)GCG>GCA	p.A487A		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	487	BEN 2.									ovary(3)	3						CTTCACTGCCCGCGTCCAGCC	0.647													T	107390934	C	T	107390934	2	4	160	1	0	0	0	0	0	0	0	1	1399	639	23	1		1	BEND3	6	107390934	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	835636	107390934	63724133	429	87315											
SOBP	55084	broad.mit.edu	37	chr6	107955346	107955346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaccccatgcttcccgGcatcgggcccccgcccggtg	11	20	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:107955346G>A	uc003prx.2	+	6	1802	c.1298G>A	c.(1297-1299)GGC>GAC	p.G433D		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	433	Pro-rich.						metal ion binding			ovary(1)	1		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)		ATGCTTCCCGGCATCGGGCCC	0.706													A	107955346	G	A	107955346	3	1	160	1	0	0	0	0	1	0	0	0	14912	1203	42	2	1320	2	SOBP	6	107955346	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	564412	107955346	63159721	430	87316											
FYN	2534	broad.mit.edu	37	chr6	111995713	111995713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttacctgggtatggcActcttcctttggtgaccagc	10	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:111995713A>G	uc003pvj.2	-	12	1734	c.1394T>C	c.(1393-1395)GTG>GCG	p.V465A	FYN_uc003pvi.2_Missense_Mutation_p.V410A|FYN_uc003pvk.2_Missense_Mutation_p.V465A|FYN_uc003pvh.2_Missense_Mutation_p.V462A	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	465	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			lung(5)|central_nervous_system(1)|skin(1)	7		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)	TGGGTATGGCACTCTTCCTTT	0.517													G	111995713	A	G	111995713	3	3	160	1	0	0	0	0	1	0	0	0	6126	159	6	3	227	3	FYN	6	111995713	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	4040367	111995713	59119354	431	87317											
GOPC	57120	broad.mit.edu	37	chr6	117884447	117884447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttatgatacagagtgtgCagatcatctaattttgaagc	8	5	2	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:117884447C>T	uc003pxu.2	-	9	1589	c.1359G>A	c.(1357-1359)CTG>CTA	p.L453L	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxs.2_Intron|GOPC_uc003pxv.2_Silent_p.L445L	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	453					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		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)		ACAGAGTGTGCAGATCATCTA	0.393			O	ROS1	glioblastoma								T	117884447	C	T	117884447	2	4	160	1	0	0	0	0	0	0	0	1	6573	697	25	2		2	GOPC	6	117884447	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5888734	117884447	53230620	432	87318											
GJA1	2697	broad.mit.edu	37	chr6	121768598	121768598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggactgtttcctctctcGccccacggagaaaaccatct	9	14	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:121768598G>A	uc003pyr.2	+	2	855	c.605G>A	c.(604-606)CGC>CAC	p.R202H	GJA1_uc011ebo.1_Missense_Mutation_p.R103H|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	202	Extracellular (Potential).		R -> H (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTCCTCTCTCGCCCCACGGAG	0.473													A	121768598	G	A	121768598	3	1	160	1	0	0	0	0	1	0	0	0	6400	1087	38	1	607	1	GJA1	6	121768598	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3884151	121768598	49346469	433	87319											
NKAIN2	154215	broad.mit.edu	37	chr6	124979412	124979412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggatgtacggtgacGtcagtgacacctgccccaga	13	12	1	3	rs142736368	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:124979412G>A	uc003pzo.2	+	4	631	c.354G>A	c.(352-354)ACG>ACA	p.T118T	NKAIN2_uc003pzn.1_Silent_p.T118T|NKAIN2_uc003pzp.2_Silent_p.T117T|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Silent_p.T28T	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	118						integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		GTACGGTGACGTCAGTGACAC	0.488													A	124979412	G	A	124979412	2	1	160	1	0	0	0	0	0	0	0	1	10436	1132	40	1		1	NKAIN2	6	124979412	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3210814	124979412	46135655	434	87320											
LAMA2	3908	broad.mit.edu	37	chr6	129759816	129759816	+	Frame_Shift_Del	DEL	A	A	-													gaagaccatctaaatggcttAaaaaccaggatagaaaatgc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:129759815_129759815TA>T	uc021zfb.1	+	41	6098	c.5993_5993TA>T	c.(5992-5994)ttafs	p.L1998fs	LAMA2_uc003qbn.3_Frame_Shift_Del_p.L1998fs|LAMA2_uc003qbo.3_Frame_Shift_Del_p.L1998fs|U6_uc021zfc.1_5'Flank	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1998	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)		CTAAATGGCTTAAAAACCAGG	0.338													-	129759816	A	-	129759816	7	5	160	1	0	1	0	1	0	0	0	0	8606	359	13	0	6160	0	LAMA2	6	129759816	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	4780404	129759816	41355251	435	87321											
TCF21	6943	broad.mit.edu	37	chr6	134210757	134210757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctgagcggggtcagccaGgaggggaagcaggtccagcg	18	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:134210757G>T	uc003qei.3	+	1	498	c.222G>T	c.(220-222)CAG>CAT	p.Q74H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Q74H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	74					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				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGGTCAGCCAGGAGGGGAAGC	0.687													T	134210757	G	T	134210757	3	4	160	1	0	0	0	0	1	0	0	0	15688	991	35	5	224	5	TCF21	6	134210757	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4450941	134210757	36904310	436	87322											
SLC35D3	340146	broad.mit.edu	37	chr6	137245685	137245685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtcaggggcagccccCgaggagtcccgctggtggct	17	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:137245685C>T	uc003qhe.2	+	2	1267	c.1102C>T	c.(1102-1104)CGA>TGA	p.R368*		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	368					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGGCAGCCCCCGAGGAGTCCC	0.637													T	137245685	C	T	137245685	4	4	160	1	0	0	0	0	0	1	0	0	14583	644	23	1	1108	1	SLC35D3	6	137245685	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3034928	137245685	33869382	437	87323											
NMBR	4829	broad.mit.edu	37	chr6	142409452	142409452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagggatcagtttgcagCccaccttgccaaacatccac	8	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:142409452C>T	uc003qiu.2	-	1	485	c.344G>A	c.(343-345)GGC>GAC	p.G115D		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	115	Extracellular (Potential).				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			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGTTTGCAGCCCACCTTGCC	0.602													T	142409452	C	T	142409452	3	4	160	1	0	0	0	0	1	0	0	0	10487	739	26	2	840	2	NMBR	6	142409452	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5163767	142409452	28705615	438	87324											
GRM1	2911	broad.mit.edu	37	chr6	146755425	146755425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaaccccctccacaGcagaaatcgctgatggacca	8	16	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:146755425G>T	uc010khw.1	+	9	3548	c.3078G>T	c.(3076-3078)CAG>CAT	p.Q1026H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1026	Gln/Pro-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCCTCCACAGCAGAAATCGC	0.662													T	146755425	G	T	146755425	3	4	160	1	0	0	0	0	1	0	0	0	6796	962	34	5	3173	5	GRM1	6	146755425	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4345973	146755425	24359642	439	87325											
LATS1	9113	broad.mit.edu	37	chr6	150016224	150016224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcacctggtttcatgctgGcattaataggtctggcagct	10	9	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:150016224G>A	uc003qmu.1	-	3	1030	c.482C>T	c.(481-483)GCC>GTC	p.A161V	LATS1_uc010kif.1_Missense_Mutation_p.A56V|LATS1_uc003qmv.1_Missense_Mutation_p.A161V|LATS1_uc003qmw.2_Missense_Mutation_p.A161V|LATS1_uc010kig.1_Missense_Mutation_p.A56V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	161					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTCATGCTGGCATTAATAGG	0.358													A	150016224	G	A	150016224	3	1	160	1	0	0	0	0	1	0	0	0	8646	1203	42	2	2934	2	LATS1	6	150016224	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3260799	150016224	21098843	440	87326											
MTHFD1L	25902	broad.mit.edu	37	chr6	151336756	151336756	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtccgttggtggaaaaggatCggtggacttggctcgggctg	18	7	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:151336756C>A	uc003qob.2	+	24	2781	c.2513C>A	c.(2512-2514)TCG>TAG	p.S838*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.S839*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.S786*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	838	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			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGAAAAGGATCGGTGGACTTG	0.522													A	151336756	C	A	151336756	4	1	160	1	0	0	0	0	0	1	0	0	9928	893	31	5	2607	5	MTHFD1L	6	151336756	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1320532	151336756	19778311	441	87327											
AKAP12	9590	broad.mit.edu	37	chr6	151672365	151672365	+	Frame_Shift_Del	DEL	C	C	-													aagtaattgcagaagaagaaCcccccacggttactgaacct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:151672364_151672364AC>A	uc011eep.2	+	3	3078	c.2838_2838AC>A	c.(2836-2838)gaafs	p.E946fs	AKAP12_uc003qoe.3_Frame_Shift_Del_p.E946fs|AKAP12_uc003qof.3_Frame_Shift_Del_p.E848fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Del_p.E841fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	946				E -> G (in Ref. 4; CAH18338).	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)		CAGAAGAAGAACCCCCCACGG	0.527													-	151672365	C	-	151672365	7	5	160	1	0	1	0	1	0	0	0	0	448	507	18	0	2878	0	AKAP12	6	151672365	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	335609	151672365	19442702	442	87328											
SYNE1	23345	broad.mit.edu	37	chr6	152708428	152708428	+	Frame_Shift_Del	DEL	T	T	-													tggttgtaagggatgttctaTtttttgatccactgattcca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:152708427_152708427AT>A	uc021zhb.1	-	51	8490	c.8267_8267AT>T	c.(8266-8268)atafs	p.I2756fs	SYNE1_uc003qot.4_Frame_Shift_Del_p.I2763fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.I2756fs|SYNE1_uc010kjb.1_Frame_Shift_Del_p.I2739fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2756					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.K2755*(1)		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)		GGGATGTTCTATTTTTTGATC	0.453										HNSCC(10;0.0054)			-	152708428	T	-	152708428	7	5	160	1	0	1	0	1	0	0	0	0	15442	1493	52	0	18572	0	SYNE1	6	152708428	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	1036063	152708428	18406639	443	87329											
IGF2R	3482	broad.mit.edu	37	chr6	160501183	160501183	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgatgacggcgtcccctgTgtcttccccttcatattcaa	7	15	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:160501183T>C	uc003qta.2	+	39	5857	c.5709T>C	c.(5707-5709)TGT>TGC	p.C1903C		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1903	13.|Lumenal (Potential).|Fibronectin type-II.				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGTCCCCTGTGTCTTCCCCT	0.537													C	160501183	T	C	160501183	2	2	160	1	0	0	0	0	0	0	0	1	7576	1702	59	3		3	IGF2R	6	160501183	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	7792755	160501183	10613884	444	87330											
MAP3K4	4216	broad.mit.edu	37	chr6	161470592	161470592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggccagtgtttgaaatcCcttcccctcgaccatccaaa	7	15	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:161470592C>A	uc003qtn.2	+	3	1430	c.1288C>A	c.(1288-1290)CCT>ACT	p.P430T	MAP3K4_uc010kkc.1_Missense_Mutation_p.P430T|MAP3K4_uc003qto.2_Missense_Mutation_p.P430T|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	430					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			ovary(3)|lung(3)|skin(2)|stomach(1)	9		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)		GTTTGAAATCCCTTCCCCTCG	0.418													A	161470592	C	A	161470592	3	1	160	1	0	0	0	0	1	0	0	0	9252	623	22	5	1298	5	MAP3K4	6	161470592	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	969409	161470592	9644475	445	87331											
MAP3K4	4216	broad.mit.edu	37	chr6	161514015	161514015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcgtgtaccaggtgggCgactcaaggatttgattttc	11	7	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:161514015C>T	uc003qtn.2	+	14	3417	c.3275C>T	c.(3274-3276)GCG>GTG	p.A1092V	MAP3K4_uc010kkc.1_Missense_Mutation_p.A1092V|MAP3K4_uc003qto.2_Missense_Mutation_p.A1092V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A545V|MAP3K4_uc003qtp.2_Missense_Mutation_p.A82V	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1092					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			ovary(3)|lung(3)|skin(2)|stomach(1)	9		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)		ACCAGGTGGGCGACTCAAGGA	0.338													T	161514015	C	T	161514015	3	4	160	1	0	0	0	0	1	0	0	0	9252	768	27	1	3329	1	MAP3K4	6	161514015	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	43423	161514015	9601052	446	87332											
PDE10A	10846	broad.mit.edu	37	chr6	165846548	165846548	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaattgcagtgacaaTtggtaagcaaagaacagact	9	8	1	3	rs139733232		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:165846548T>A	uc003qun.2	-	8	818	c.577A>T	c.(577-579)ATT>TTT	p.I193F	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I123F|PDE10A_uc003quo.2_Missense_Mutation_p.I203F	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	193	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		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)	GCAGTGACAATTGGTAAGCAA	0.428													A	165846548	T	A	165846548	3	1	160	1	0	0	0	0	1	0	0	0	11630	1493	52	5	1826	5	PDE10A	6	165846548	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4332533	165846548	5268519	447	87333											
WDR27	253769	broad.mit.edu	37	chr6	170059238	170059238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctgagccctgactagCgcggccgggttgatctccaa	12	14	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:170059238C>T	uc003qwx.2	-	12	1783	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Silent_p.A421A|WDR27_uc003qwy.2_Silent_p.A294A|WDR27_uc003qwz.1_Silent_p.A154A			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	391										pancreas(1)	1		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)		CCCTGACTAGCGCGGCCGGGT	0.597													T	170059238	C	T	170059238	2	4	160	1	0	0	0	0	0	0	0	1	17281	755	27	1		1	WDR27	6	170059238	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4212690	170059238	1055829	448	87334											
COL28A1	340267	broad.mit.edu	37	chr7	7495740	7495740	+	Frame_Shift_Del	DEL	C	C	-													gggtcccacaggtcctatatCcccctgcacagaaaataagc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:7495739_7495739TC>T	uc003src.1	-	15	1424	c.1307_1307GA>A	c.(1306-1308)gatfs	p.D436fs	COL28A1_uc011jxe.1_Frame_Shift_Del_p.D119fs|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	436					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)		AGGTCCTATATCCCCCTGCAC	0.408													-	7495740	C	-	7495740	7	5	160	1	0	1	0	1	0	0	0	0	3686	855	30	0	2151	0	COL28A1	7	7495740	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08		7495740	151642923	449	87335											
MIOS	54468	broad.mit.edu	37	chr7	7612108	7612108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcacatcagtaaacaTgagcggtaccaaacctgata	7	9	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:7612108T>C	uc003srf.2	+	4	310	c.2T>C	c.(1-3)ATG>ACG	p.M1T	MIOS_uc010ktp.1_Missense_Mutation_p.M1T	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	1											0						TCAGTAAACATGAGCGGTACC	0.348													C	7612108	T	C	7612108	3	2	160	1	0	0	0	0	1	0	0	0	9589	1464	51	3	4	3	MIOS	7	7612108	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	116368	7612108	151526555	450	87336											
NXPH1	30010	broad.mit.edu	37	chr7	8475382	8475382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgcttttcctcctgcaGcccaccgtctacttggtaag	8	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:8475382G>A	uc003srv.2	+	2	950	c.39G>A	c.(37-39)CAG>CAA	p.Q13Q	NXPH1_uc011jxh.1_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	13						extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCCTCCTGCAGCCCACCGTCT	0.557													A	8475382	G	A	8475382	2	1	160	1	0	0	0	0	0	0	0	1	10790	962	34	2		2	NXPH1	7	8475382	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	863274	8475382	150663281	451	87337											
THSD7A	221981	broad.mit.edu	37	chr7	11485856	11485856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtctgaccagttccccaCaggttgtgcattatatttgt	8	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:11485856C>T	uc003ssf.3	-	13	3148	c.2896G>A	c.(2896-2898)GTG>ATG	p.V966M		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	966	TSP type-1 10.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGTTCCCCACAGGTTGTGCA	0.403										HNSCC(18;0.044)			T	11485856	C	T	11485856	3	4	160	1	0	0	0	0	1	0	0	0	15876	478	17	4	2137	4	THSD7A	7	11485856	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3010474	11485856	147652807	452	87338											
MEOX2	4223	broad.mit.edu	37	chr7	15725591	15725591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcggccgtagtcccccGgcgcgcacgcggccccagtc	14	20	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:15725591G>A	uc003stc.2	-	1	718	c.437C>T	c.(436-438)CCG>CTG	p.P146L	MEOX2_uc011jxw.1_Missense_Mutation_p.P146L	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	146					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GTAGTCCCCCGGCGCGCACGC	0.706													A	15725591	G	A	15725591	3	1	160	1	0	0	0	0	1	0	0	0	9474	1116	39	1	489	1	MEOX2	7	15725591	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4239735	15725591	143413072	453	87339											
HOXA4	3201	broad.mit.edu	37	chr7	27170241	27170241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggtagccggggccccCgcccgggccgccgtctgcgc	16	19	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:27170241C>T	uc003sym.3	-	1	159	c.112G>A	c.(112-114)GGG>AGG	p.G38R		NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	38	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						ccggggcccccgcccgggccg	0.597													T	27170241	C	T	27170241	3	4	160	1	0	0	0	0	1	0	0	0	7294	652	23	1	858	1	HOXA4	7	27170241	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	11444650	27170241	131968422	454	87340											
HOXA9	3205	broad.mit.edu	37	chr7	27204787	27204787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgccgccgccgccacgGgcgcctgggggtgcacgtag	18	17	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:27204787G>A	uc003syt.2	-	1	363	c.290C>T	c.(289-291)CCC>CTC	p.P97L		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	97							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						CGCCGCCACGGGCGCCTGGGG	0.736			T	NUP98|MSI2	AML*								A	27204787	G	A	27204787	3	1	160	1	0	0	0	0	1	0	0	0	7298	1232	43	4	536	4	HOXA9	7	27204787	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	34546	27204787	131933876	455	87341											
TAX1BP1	8887	broad.mit.edu	37	chr7	27839705	27839705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagtacaggacaattAtaaagtaagtttggtactcc	9	6	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:27839705A>T	uc003szl.2	+	13	1918	c.1760A>T	c.(1759-1761)TAT>TTT	p.Y587F	TAX1BP1_uc011jzo.1_Missense_Mutation_p.Y587F|TAX1BP1_uc003szk.2_Missense_Mutation_p.Y587F|TAX1BP1_uc011jzp.1_Missense_Mutation_p.Y430F	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	587	Potential.				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)	1			GBM - Glioblastoma multiforme(3;0.0823)			CAGGACAATTATAAAGTAAGT	0.279													T	27839705	A	T	27839705	3	4	160	1	0	0	0	0	1	0	0	0	15591	449	16	5	1806	5	TAX1BP1	7	27839705	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	634918	27839705	131298958	456	87342											
CREB5	9586	broad.mit.edu	37	chr7	28763860	28763860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagcgacaaatgtcagtgAactccagcatcatggggatg	13	8	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:28763860A>G	uc003szq.2	+	7	1003	c.613A>G	c.(613-615)AAC>GAC	p.N205D	CREB5_uc003szo.2_Missense_Mutation_p.N172D|CREB5_uc003szr.2_Missense_Mutation_p.N198D|CREB5_uc003szs.2_Missense_Mutation_p.N66D|CREB5_uc011jzr.1_Missense_Mutation_p.N54D	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	205					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			skin(2)	2						AATGTCAGTGAACTCCAGCAT	0.458													G	28763860	A	G	28763860	3	3	160	1	0	0	0	0	1	0	0	0	3860	246	9	3	690	3	CREB5	7	28763860	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	924155	28763860	130374803	457	87343											
NOD1	10392	broad.mit.edu	37	chr7	30494838	30494838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaggcctgaggtccacGtaggcatctgcgagttgctg	14	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:30494838G>A	uc003tav.2	-	5	814	c.291C>T	c.(289-291)TAC>TAT	p.Y97Y	NOD1_uc010kvs.2_Silent_p.Y97Y	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	97	CARD.				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			ovary(1)|skin(1)	2						TGAGGTCCACGTAGGCATCTG	0.587													A	30494838	G	A	30494838	2	1	160	1	0	0	0	0	0	0	0	1	10516	1140	40	1		1	NOD1	7	30494838	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1730978	30494838	128643825	458	87344											
TBX20	57057	broad.mit.edu	37	chr7	35244126	35244126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccccaagacatcttctTctcctccgtaggtacggatg	7	15	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:35244126T>C	uc011kas.1	-	7	970	c.959A>G	c.(958-960)GAA>GGA	p.E320G		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	320						nucleus	DNA binding			central_nervous_system(1)	1						GACATCTTCTTCTCCTCCGTA	0.488													C	35244126	T	C	35244126	3	2	160	1	0	0	0	0	1	0	0	0	15653	1783	62	3	391	3	TBX20	7	35244126	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4749288	35244126	123894537	459	87345											
HERPUD2	64224	broad.mit.edu	37	chr7	35674970	35674970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtttggagctggtgggGgttcttctccaggaacatgt	15	7	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:35674970G>A	uc003tet.2	-	6	1521	c.716C>T	c.(715-717)CCC>CTC	p.P239L	HERPUD2_uc003tes.3_Missense_Mutation_p.P239L	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	239					response to unfolded protein	integral to membrane				ovary(3)	3						AGCTGGTGGGGGTTCTTCTCC	0.473													A	35674970	G	A	35674970	3	1	160	1	0	0	0	0	1	0	0	0	7064	1232	43	4	516	4	HERPUD2	7	35674970	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	430844	35674970	123463693	460	87346											
EPDR1	54749	broad.mit.edu	37	chr7	37988614	37988614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcaggagcagatcaccGtccaggagtggtcggacaga	15	11	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:37988614G>A	uc003tfp.2	+	2	821	c.802G>A	c.(802-804)GTC>ATC	p.V268I	EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.V87I	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	148					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						GCAGATCACCGTCCAGGAGTG	0.493													A	37988614	G	A	37988614	3	1	160	1	0	0	0	0	1	0	0	0	5163	1145	40	1	808	1	EPDR1	7	37988614	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2313644	37988614	121150049	461	87347											
GLI3	2737	broad.mit.edu	37	chr7	42005509	42005509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagtttcgggactggccGccctcgggccgcgtgtaatt	15	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:42005509G>A	uc011kbh.1	-	15	3253	c.3162C>T	c.(3160-3162)GGC>GGT	p.G1054G	GLI3_uc011kbg.1_Silent_p.G995G	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1054					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGGACTGGCCGCCCTCGGGCC	0.652									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005509	G	A	42005509	2	1	160	1	0	0	0	0	0	0	0	1	6439	1074	38	1		1	GLI3	7	42005509	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4016895	42005509	117133154	462	87348											
HECW1	23072	broad.mit.edu	37	chr7	43477737	43477737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagactcctggagagacacGccatagggtaaacctgtgac	11	10	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:43477737G>A	uc003tid.1	+	9	1542	c.937G>A	c.(937-939)GCC>ACC	p.A313T	HECW1_uc011kbi.1_Missense_Mutation_p.A313T|HECW1_uc003tie.1_Missense_Mutation_p.A345T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	313					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGAGAGACACGCCATAGGGTA	0.512													A	43477737	G	A	43477737	3	1	160	1	0	0	0	0	1	0	0	0	7042	1087	38	1	963	1	HECW1	7	43477737	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1472228	43477737	115660926	463	87349											
PKD1L1	168507	broad.mit.edu	37	chr7	47851635	47851635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagtcgggacagggctGtgtgggcttcagtcctgtaa	15	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:47851635G>A	uc003tny.1	-	50	7361	c.7361C>T	c.(7360-7362)ACA>ATA	p.T2454I	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.T181I	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2454	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGACAGGGCTGTGTGGGCTTC	0.582													A	47851635	G	A	47851635	3	1	160	1	0	0	0	0	1	0	0	0	11964	1377	48	4	1220	4	PKD1L1	7	47851635	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4373898	47851635	111287028	464	87350											
POM121L12	285877	broad.mit.edu	37	chr7	53103493	53103493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcacgccccagaccacGccatctccccagggtcgcca	8	22	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:53103493G>A	uc003tpz.2	+	1	145	c.129G>A	c.(127-129)ACG>ACA	p.T43T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	43											0						CCCAGACCACGCCATCTCCCC	0.682													A	53103493	G	A	53103493	2	1	160	1	0	0	0	0	0	0	0	1	12241	1074	38	1		1	POM121L12	7	53103493	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5251858	53103493	106035170	465	87351											
EGFR	1956	broad.mit.edu	37	chr7	55224270	55224270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttaaagactcactctccAtaaatgctacgaatattaaa	3	8	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:55224270A>G	uc003tqk.2	+	9	1297	c.1051A>G	c.(1051-1053)ATA>GTA	p.I351V	EGFR_uc003tqh.2_Missense_Mutation_p.I351V|EGFR_uc003tqi.2_Missense_Mutation_p.I351V|EGFR_uc003tqj.2_Missense_Mutation_p.I351V|EGFR_uc010kzg.1_Missense_Mutation_p.I306V|EGFR_uc011kco.1_Missense_Mutation_p.I298V|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	351	Extracellular (Potential).				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			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	CTCACTCTCCATAAATGCTAC	0.428		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55224270	A	G	55224270	3	3	160	1	0	0	0	0	1	0	0	0	4967	217	8	3	1085	3	EGFR	7	55224270	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2120777	55224270	103914393	466	87352											
GUSB	2990	broad.mit.edu	37	chr7	65432725	65432725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacactgcttacctggtgaAaccctgcaatcgtttctgct	7	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:65432725A>G	uc003tun.2	-	10	1722	c.1646T>C	c.(1645-1647)TTT>TCT	p.F549S	GUSB_uc011kdt.1_Missense_Mutation_p.F403S	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	549					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TACCTGGTGAAACCCTGCAAT	0.517													G	65432725	A	G	65432725	3	3	160	1	0	0	0	0	1	0	0	0	6902	14	1	3	321	3	GUSB	7	65432725	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	10208455	65432725	93705938	467	87353											
AUTS2	26053	broad.mit.edu	37	chr7	69364323	69364323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagaaacgccagacgcccCtgaccaagaagaaacgagaa	11	11	0	6			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:69364323C>A	uc003tvw.3	+	2	1104	c.361C>A	c.(361-363)CTG>ATG	p.L121M	AUTS2_uc003tvv.3_Missense_Mutation_p.L121M|AUTS2_uc003tvx.3_Missense_Mutation_p.L121M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	121										ovary(2)|central_nervous_system(1)	3		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)		CCAGACGCCCCTGACCAAGAA	0.468													A	69364323	C	A	69364323	3	1	160	1	0	0	0	0	1	0	0	0	1225	680	24	5	367	5	AUTS2	7	69364323	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3931598	69364323	89774340	468	87354											
AUTS2	26053	broad.mit.edu	37	chr7	69583138	69583138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagccaggacagaacagCtgcagggacagtgacagtga	13	10	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:69583138C>A	uc003tvw.3	+	3	1286	c.543C>A	c.(541-543)AGC>AGA	p.S181R	AUTS2_uc003tvv.3_Missense_Mutation_p.S181R|AUTS2_uc003tvx.3_Missense_Mutation_p.S181R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	181										ovary(2)|central_nervous_system(1)	3		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)		GACAGAACAGCTGCAGGGACA	0.443													A	69583138	C	A	69583138	3	1	160	1	0	0	0	0	1	0	0	0	1225	796	28	5	553	5	AUTS2	7	69583138	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	218815	69583138	89555525	469	87355											
AUTS2	26053	broad.mit.edu	37	chr7	70255474	70255474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccggagagacccgctggGcagggacttcctgctaagga	14	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:70255474G>C	uc003tvw.3	+	19	4015	c.3272G>C	c.(3271-3273)GGC>GCC	p.G1091A	AUTS2_uc003tvx.3_Missense_Mutation_p.G1067A|AUTS2_uc011keg.1_Missense_Mutation_p.G543A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1091										ovary(2)|central_nervous_system(1)	3		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)		GACCCGCTGGGCAGGGACTTC	0.637													C	70255474	G	C	70255474	3	2	160	1	0	0	0	0	1	0	0	0	1225	1203	42	5	3491	5	AUTS2	7	70255474	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	672336	70255474	88883189	470	87356											
WBSCR28	135886	broad.mit.edu	37	chr7	73279655	73279655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgtttttgtcatgtctGcacggcctgatgttggtggc	13	8	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:73279655G>A	uc003tzk.2	+	2	441	c.405G>A	c.(403-405)CTG>CTA	p.L135L	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Silent_p.L34L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	135	Helical; (Potential).					integral to membrane				breast(1)	1		Lung NSC(55;0.159)				TGTCATGTCTGCACGGCCTGA	0.607													A	73279655	G	A	73279655	2	1	160	1	0	0	0	0	0	0	0	1	17264	1306	46	2		2	WBSCR28	7	73279655	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3024181	73279655	85859008	471	87357											
LAT2	7462	broad.mit.edu	37	chr7	73635972	73635972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttcttggccagagaccCcattgccatggagtattaca	9	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:73635972C>A	uc003uag.2	+	10	888	c.338C>A	c.(337-339)CCC>CAC	p.P113H	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.P113H|LAT2_uc003uai.2_Missense_Mutation_p.P113H|LAT2_uc010lbo.2_Intron	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	113	Cytoplasmic (Potential).				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				0						GCCAGAGACCCCATTGCCATG	0.597													A	73635972	C	A	73635972	3	1	160	1	0	0	0	0	1	0	0	0	8645	623	22	5	368	5	LAT2	7	73635972	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	356317	73635972	85502691	472	87358											
SEMA3C	10512	broad.mit.edu	37	chr7	80387683	80387683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctggaacaggaatggCcatcccaggcgcaataaggg	13	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:80387683C>T	uc003uhj.2	-	15	2169	c.1607G>A	c.(1606-1608)GGC>GAC	p.G536D	SEMA3C_uc011kgw.1_Missense_Mutation_p.G554D	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	536					immune response|response to drug	membrane	receptor activity			ovary(1)	1						ACAGGAATGGCCATCCCAGGC	0.527													T	80387683	C	T	80387683	3	4	160	1	0	0	0	0	1	0	0	0	14026	739	26	2	664	2	SEMA3C	7	80387683	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	6751711	80387683	78750980	473	87359											
PCLO	27445	broad.mit.edu	37	chr7	82764463	82764464	+	Frame_Shift_Ins	INS	-	-	T													gtggaaaactctgtgagggtINSttggcagagtctgtttttag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:82764462_82764463G>GT	uc003uhx.2	-	2	2692_2693	c.2403_2404C>AC	c.(2401-2406)aaacccfs	p.K801fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K801fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	747	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCTGTGAGGGTTTGGCAGAGT	0.426													T	82764464	-	T	82764463	7	5	160	1	0	1	1	0	0	0	0	0	11583	1722	60	0	13134	0	PCLO	7	82764463	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	2376780	82764463	76374200	474	87360											
SEMA3A	10371	broad.mit.edu	37	chr7	83591011	83591011	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtcaatgacttccagGgttaccttaagaagagtttg	10	7	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:83591011G>T	uc003uhz.2	-	17	2307	c.1992C>A	c.(1990-1992)ACC>ACA	p.T664T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	664	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TGACTTCCAGGGTTACCTTAA	0.428													T	83591011	G	T	83591011	2	4	160	1	0	0	0	0	0	0	0	1	14024	1219	43	5		5	SEMA3A	7	83591011	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	826548	83591011	75547652	475	87361											
ABCB4	5244	broad.mit.edu	37	chr7	87035769	87035769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccgagttgagctctgagCcactggacattgagtttctt	10	9	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:87035769C>T	uc003uiv.1	-	26	3418	c.3342G>A	c.(3340-3342)TGG>TGA	p.W1114*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.W1107*|ABCB4_uc003uix.1_Nonsense_Mutation_p.W1060*	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1114	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAGCTCTGAGCCACTGGACAT	0.418													T	87035769	C	T	87035769	4	4	160	1	0	0	0	0	0	1	0	0	43	740	26	2	530	2	ABCB4	7	87035769	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3444758	87035769	72102894	476	87362											
ZNF804B	219578	broad.mit.edu	37	chr7	88847469	88847469	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttatgtattttttcttaaagGattttgcagaaaagaagtcc	7	4	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:88847469G>C	uc011khi.1	+	2	647	c.109G>C	c.(109-111)GAT>CAT	p.D37H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	37						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTTAAAGGATTTTGCAGA	0.348										HNSCC(36;0.09)			C	88847469	G	C	88847469	3	2	160	1	0	0	0	0	1	0	0	0	18168	1188	41	5	115	5	ZNF804B	7	88847469	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1811700	88847469	70291194	477	87363											
FZD1	8321	broad.mit.edu	37	chr7	90895674	90895674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtggcttcgtgctggcGcccctcttcgtgtacctgtt	12	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:90895674G>A	uc003ula.2	+	1	1892	c.1479G>A	c.(1477-1479)GCG>GCA	p.A493A		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	493	Helical; Name=5; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TCGTGCTGGCGCCCCTCTTCG	0.617													A	90895674	G	A	90895674	2	1	160	1	0	0	0	0	0	0	0	1	6128	1074	38	1		1	FZD1	7	90895674	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2048205	90895674	68242989	478	87364											
PPP1R9A	55607	broad.mit.edu	37	chr7	94740588	94740588	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggttttcaacacatactcCaatgaagactatgacaggag	8	9	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:94740588C>A	uc003unp.2	+	3	1695	c.1413C>A	c.(1411-1413)TCC>TCA	p.S471S	PPP1R9A_uc010lfj.2_Silent_p.S471S|PPP1R9A_uc011kif.1_Silent_p.S471S|PPP1R9A_uc003unq.2_Silent_p.S471S|PPP1R9A_uc011kig.1_Silent_p.S471S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	471	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACACATACTCCAATGAAGACT	0.378										HNSCC(28;0.073)			A	94740588	C	A	94740588	2	1	160	1	0	0	0	0	0	0	0	1	12378	581	21	5		5	PPP1R9A	7	94740588	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3844914	94740588	64398075	479	87365											
OR2AE1	81392	broad.mit.edu	37	chr7	99474544	99474544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggtgttgccactcaccGcaataaggaagaccaccatg	11	11	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:99474544G>A	uc003usc.1	-	1	113	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCACTCACCGCAATAAGGAA	0.507													A	99474544	G	A	99474544	3	1	160	1	0	0	0	0	1	0	0	0	10983	1087	38	1	862	1	OR2AE1	7	99474544	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4733956	99474544	59664119	480	87366											
TRIM4	89122	broad.mit.edu	37	chr7	99490019	99490019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaagggccaatagccagCagcactccaataaatcgccc	7	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:99490019C>T	uc003usd.2	-	7	1400	c.1270G>A	c.(1270-1272)GCT>ACT	p.A424T	TRIM4_uc003use.2_Missense_Mutation_p.A398T|TRIM4_uc011kjc.1_Missense_Mutation_p.A254T	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	tripartite motif protein TRIM4 isoform alpha	424	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			ovary(1)|kidney(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAATAGCCAGCAGCACTCCAA	0.557													T	99490019	C	T	99490019	3	4	160	1	0	0	0	0	1	0	0	0	16511	710	25	2	236	2	TRIM4	7	99490019	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	15475	99490019	59648644	481	87367											
ZAN	7455	broad.mit.edu	37	chr7	100349935	100349936	+	Frame_Shift_Ins	INS	-	-	A													aaatccaccatctccccagaINSaaaacccaccacccccacag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100349934_100349935G>GA	uc003uwj.3	+	13	2371_2372	c.2206_2207G>GA	c.(2206-2208)gaafs	p.E736fs	ZAN_uc003uwk.3_Frame_Shift_Ins_p.E736fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	736	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			CATCTCCCCAGAAAAACCCACC	0.52													A	100349936	-	A	100349935	7	5	160	1	0	1	1	0	0	0	0	0	17510	246	9	0	2257	0	ZAN	7	100349935	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	859916	100349935	58788728	482	87368											
SRRT	51593	broad.mit.edu	37	chr7	100483916	100483916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagggacctgacccggCgcgttcgcaacatcaacggc	12	14	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100483916C>T	uc003uwy.2	+	14	1775	c.1507C>T	c.(1507-1509)CGC>TGC	p.R503C	SRRT_uc010lhl.1_Missense_Mutation_p.R502C|SRRT_uc003uxa.2_Missense_Mutation_p.R502C|SRRT_uc003uwz.2_Missense_Mutation_p.R503C	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	503					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						CCTGACCCGGCGCGTTCGCAA	0.602													T	100483916	C	T	100483916	3	4	160	1	0	0	0	0	1	0	0	0	15171	768	27	1	1553	1	SRRT	7	100483916	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	133981	100483916	58654747	483	87369											
TRIM56	81844	broad.mit.edu	37	chr7	100732461	100732461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcagcctggccacccGgttcattcctggaggcaagg	15	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100732461G>A	uc003uxq.2	+	3	2099	c.1868G>A	c.(1867-1869)CGG>CAG	p.R623Q	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	623					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGGCCACCCGGTTCATTCCT	0.687													A	100732461	G	A	100732461	3	1	160	1	0	0	0	0	1	0	0	0	16527	1116	39	1	1870	1	TRIM56	7	100732461	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	248545	100732461	58406202	484	87370											
PLOD3	8985	broad.mit.edu	37	chr7	100849621	100849621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggtcgttggcagcccctCgtggtagtgggtgaggcggc	18	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100849621C>T	uc003uyd.2	-	19	2614	c.2158G>A	c.(2158-2160)GAG>AAG	p.E720K	PLOD3_uc010lhs.2_Missense_Mutation_p.E285K	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	720	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGCAGCCCCTCGTGGTAGTGG	0.642													T	100849621	C	T	100849621	3	4	160	1	0	0	0	0	1	0	0	0	12103	893	31	1	62	1	PLOD3	7	100849621	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	117160	100849621	58289042	485	87371											
ORAI2	80228	broad.mit.edu	37	chr7	102087428	102087428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacggagcgccacaacCgcgagatcgaggagctccac	11	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:102087428C>T	uc010lhz.1	+	4	929	c.694C>T	c.(694-696)CGC>TGC	p.R232C	ORAI2_uc003uzj.2_Missense_Mutation_p.R232C|ORAI2_uc003uzk.2_Missense_Mutation_p.R232C|ORAI2_uc011kks.1_Missense_Mutation_p.R155C	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	232						integral to membrane	protein binding			ovary(1)|kidney(1)	2						GCGCCACAACCGCGAGATCGA	0.652													T	102087428	C	T	102087428	3	4	160	1	0	0	0	0	1	0	0	0	11258	652	23	1	700	1	ORAI2	7	102087428	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1237807	102087428	57051235	486	87372											
SLC26A5	375611	broad.mit.edu	37	chr7	103014994	103014994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcagctcccatagggcaGgattttcaaaaaatctattc	7	10	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:103014994G>T	uc003vbz.2	-	20	2323	c.2087C>A	c.(2086-2088)CCT>CAT	p.P696H	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.P664H|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	696	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CCATAGGGCAGGATTTTCAAA	0.443													T	103014994	G	T	103014994	3	4	160	1	0	0	0	0	1	0	0	0	14520	1000	35	5	192	5	SLC26A5	7	103014994	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	927566	103014994	56123669	487	87373											
RELN	5649	broad.mit.edu	37	chr7	103236957	103236958	+	Frame_Shift_Ins	INS	-	-	C													tagcaggtgccactggatgcINSccccattgttgctgtactga							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:103236956_103236957G>GC	uc022ajr.1	-	24	3645_3646	c.3485_3486C>GC	c.(3484-3486)ggcfs	p.G1162fs	RELN_uc022ajq.1_Frame_Shift_Ins_p.G1162fs|RELN_uc010liz.3_Frame_Shift_Ins_p.G1162fs	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1162					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)		GCCACTGGATGCCCCCATTGTT	0.51													C	103236958	-	C	103236957	7	5	160	1	0	1	1	0	0	0	0	0	13220	739	26	0	7061	0	RELN	7	103236957	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	221963	103236957	55901706	488	87374											
TSPAN12	23554	broad.mit.edu	37	chr7	120496814	120496814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacggaatcttctctggCcattgtgagccccgtaaggg	11	12	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:120496814C>T	uc003vjk.2	-	2	378	c.4G>A	c.(4-6)GCC>ACC	p.A2T		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	2	Cytoplasmic (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					TCTTCTCTGGCCATTGTGAGC	0.567											OREG0018280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120496814	C	T	120496814	3	4	160	1	0	0	0	0	1	0	0	0	16633	739	26	2	941	2	TSPAN12	7	120496814	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	17259857	120496814	38641849	489	87375											
AASS	10157	broad.mit.edu	37	chr7	121716636	121716636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcctttgaaaagggcccCattaggcctttggctccaat	8	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:121716636C>A	uc003vka.2	-	23	2784	c.2688G>T	c.(2686-2688)ATG>ATT	p.M896I	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.M896I|AASS_uc011knw.1_Missense_Mutation_p.M384I	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	896	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAAAGGGCCCCATTAGGCCTT	0.383													A	121716636	C	A	121716636	3	1	160	1	0	0	0	0	1	0	0	0	24	594	21	5	96	5	AASS	7	121716636	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1219822	121716636	37422027	490	87376											
GCC1	79571	broad.mit.edu	37	chr7	127222690	127222690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaagtccagctggcacCgctccagctcctgccggtgg	12	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:127222690C>T	uc003vma.2	-	2	2124	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	569	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CAGCTGGCACCGCTCCAGCTC	0.637													T	127222690	C	T	127222690	3	4	160	1	0	0	0	0	1	0	0	0	6285	652	23	1	625	1	GCC1	7	127222690	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5506054	127222690	31915973	491	87377											
FSCN3	29999	broad.mit.edu	37	chr7	127235972	127235972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgggctgcaaccccatgagGggtgaggagtggttcatcct	15	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:127235972G>T	uc003vmd.1	+	2	975	c.756G>T	c.(754-756)AGG>AGT	p.R252S	FSCN3_uc003vmc.1_Missense_Mutation_p.R207S|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R118S|FSCN3_uc010llc.1_Missense_Mutation_p.R252S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	252						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						ACCCCATGAGGGGTGAGGAGT	0.587													T	127235972	G	T	127235972	3	4	160	1	0	0	0	0	1	0	0	0	6069	1223	43	5	762	5	FSCN3	7	127235972	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13282	127235972	31902691	492	87378											
SLC13A4	26266	broad.mit.edu	37	chr7	135368918	135368918	+	Frame_Shift_Del	DEL	G	G	-													agctgaagacgatggcattaGggggattgcccacaggcagc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:135368917_135368917AG>A	uc003vtb.3	-	14	2390	c.1701_1701CT>T	c.(1699-1701)cctfs	p.P567fs	SLC13A4_uc003vta.3_Frame_Shift_Del_p.P566fs|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	566						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGATGGCATTAGGGGGATTGC	0.552													-	135368918	G	-	135368918	7	5	160	1	0	1	0	1	0	0	0	0	14394	1000	35	0	191	0	SLC13A4	7	135368918	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	8132946	135368918	23769745	493	87379											
SLC13A4	26266	broad.mit.edu	37	chr7	135384171	135384171	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgatggtggtcaggccGccaatggtagcggagtagga	17	8	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:135384171G>T	uc003vta.2	-	8	1526	c.837C>A	c.(835-837)GGC>GGA	p.G279G	SLC13A4_uc003vtb.2_Silent_p.G280G	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	279	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0						TGGTCAGGCCGCCAATGGTAG	0.453													T	135384171	G	T	135384171	2	4	160	1	0	0	0	0	0	0	0	1	14394	1074	38	5		5	SLC13A4	7	135384171	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	15253	135384171	23754492	494	87380											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138711299	138711299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcttctttacttctcGcaagacactgtgaggtagat	7	10	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:138711299G>A	uc003vum.1	-	5	906	c.894C>T	c.(892-894)TGC>TGT	p.C298C		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	298											0						TTTACTTCTCGCAAGACACTG	0.378													A	138711299	G	A	138711299	2	1	160	1	0	0	0	0	0	0	0	1	17573	1079	38	1		1	ZC3HAV1L	7	138711299	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3327128	138711299	20427364	495	87381											
OR2A1	346528	broad.mit.edu	37	chr7	144015504	144015504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatctcctttgctggctGcatgacgcagacctttctct	8	15	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:144015504G>A	uc011kud.1	+	1	269	c.269G>A	c.(268-270)TGC>TAC	p.C90Y	OR2A9P_uc003wec.1_Intron	NM_001001802	NP_001001802	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.14)					TTTGCTGGCTGCATGACGCAG	0.577													A	144015504	G	A	144015504	3	1	160	1	0	0	0	0	1	0	0	0	10974	1319	46	2	289	2	OR2A1	7	144015504	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5304205	144015504	15123159	496	87382											
NOBOX	135935	broad.mit.edu	37	chr7	144098459	144098459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtctggggcctggagCgggctagagttctgtctttg	16	9	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:144098459C>T	uc011kue.1	-	4	524	c.524G>A	c.(523-525)CGC>CAC	p.R175H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	175					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					GGGCCTGGAGCGGGCTAGAGT	0.622													T	144098459	C	T	144098459	3	4	160	1	0	0	0	0	1	0	0	0	10512	768	27	1	1483	1	NOBOX	7	144098459	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	82955	144098459	15040204	497	87383											
SSPO	23145	broad.mit.edu	37	chr7	149493767	149493767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagggggcccttgtgacGgtgttctggactgcgaggat	18	7	1	2	rs118118675	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:149493767G>A	uc010lpk.2	+	46	6763	c.6763G>A	c.(6763-6765)GGT>AGT	p.G2255S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2255	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTTGTGACGGTGTTCTGGA	0.647													A	149493767	G	A	149493767	3	1	160	1	0	0	0	0	1	0	0	0	15188	1116	39	1	6937	1	SSPO	7	149493767	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5395308	149493767	9644896	498	87384											
GIMAP6	474344	broad.mit.edu	37	chr7	150325347	150325347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggataagacgatggcttgGcagatagcgtctgccacctc	13	11	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:150325347G>A	uc003whn.2	-	3	763	c.339C>T	c.(337-339)TGC>TGT	p.C113C	GIMAP6_uc003whm.2_Silent_p.C33C	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	113							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGATGGCTTGGCAGATAGCGT	0.632													A	150325347	G	A	150325347	2	1	160	1	0	0	0	0	0	0	0	1	6383	1195	42	2		2	GIMAP6	7	150325347	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	831580	150325347	8813316	499	87385											
SLC4A2	6522	broad.mit.edu	37	chr7	150768521	150768521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggggcagctgaagatgatCcccttcggcggacggggcgg	18	11	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:150768521C>T	uc003wit.3	+	14	2276	c.2020C>T	c.(2020-2022)CCC>TCC	p.P674S	SLC4A2_uc011kve.1_Missense_Mutation_p.P665S|SLC4A2_uc003wiu.3_Missense_Mutation_p.P660S|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	674	Cytoplasmic (Potential).			AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGATGATCCCCTTCGGCG	0.672													T	150768521	C	T	150768521	3	4	160	1	0	0	0	0	1	0	0	0	14654	855	30	4	2070	4	SLC4A2	7	150768521	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	443174	150768521	8370142	500	87386											
GBX1	2636	broad.mit.edu	37	chr7	150864251	150864251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcgggcggcagtggcggCggcggcggcagcggcggcgg	24	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:150864251C>T	uc011kvg.1	-	1	617	c.385G>A	c.(385-387)GCC>ACC	p.A129T		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	129	Ala-rich.|Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gcagtggcggcggcggcggca	0.577													T	150864251	C	T	150864251	3	4	160	1	0	0	0	0	1	0	0	0	6280	768	27	1	713	1	GBX1	7	150864251	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	95730	150864251	8274412	501	87387											
MLL3	58508	broad.mit.edu	37	chr7	151853315	151853315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcactaacactccggcTtttccagcaagttcttcagt	7	13	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:151853315T>G	uc003wla.2	-	45	12006	c.11787A>C	c.(11785-11787)AAA>AAC	p.K3929N	MLL3_uc003wkz.2_Missense_Mutation_p.K3047N|MLL3_uc003wkx.2_Missense_Mutation_p.K87N|MLL3_uc003wky.2_Missense_Mutation_p.K1493N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3929					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACACTCCGGCTTTTCCAGCAA	0.473			N		medulloblastoma								G	151853315	T	G	151853315	3	3	160	1	0	0	0	0	1	0	0	0	9622	1606	56	5	3008	5	MLL3	7	151853315	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	989064	151853315	7285348	502	87388											
MNX1	3110	broad.mit.edu	37	chr7	156798390	156798390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgcaggcggcgtccgcTgcccttgtctccgggcgctg	15	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:156798390T>C	uc003wnd.1	-	3	1333	c.1030A>G	c.(1030-1032)AGC>GGC	p.S344G	MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.S137G|MNX1_uc003wnc.1_Missense_Mutation_p.S132G|MNX1_uc010lqr.1_RNA	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	344					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCGTCCGCTGCCCTTGTCT	0.622									Currarino_syndrome				C	156798390	T	C	156798390	3	2	160	1	0	0	0	0	1	0	0	0	9679	1580	55	3	179	3	MNX1	7	156798390	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4945075	156798390	2340273	503	87389											
CSMD1	64478	broad.mit.edu	37	chr8	3046481	3046481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccgtatggctcagggtaGccgggggacaggattgtacc	15	9	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:3046481G>A	uc011kwk.1	-	35	5844	c.5454C>T	c.(5452-5454)GGC>GGT	p.G1818G	CSMD1_uc011kwj.1_Silent_p.G1210G|CSMD1_uc003wqe.2_Silent_p.G974G|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1818	Extracellular (Potential).|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)		GCTCAGGGTAGCCGGGGGACA	0.468													A	3046481	G	A	3046481	2	1	160	1	0	0	0	0	0	0	0	1	3944	958	34	2		2	CSMD1	8	3046481	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		3046481	143317541	504	87390											
TNKS	8658	broad.mit.edu	37	chr8	9565940	9565940	+	Frame_Shift_Del	DEL	A	A	-													aagcagacttagctaaagttAaaaaaacactcgctctggaa					rs56411177	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:9565939_9565939TA>T	uc003wss.3	+	8	1520	c.1515_1515TA>T	c.(1513-1515)gttfs	p.V505fs	TNKS_uc011kwv.1_Frame_Shift_Del_p.V505fs|TNKS_uc011kww.2_Frame_Shift_Del_p.V268fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	505					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|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	Golgi membrane|chromosome, centromeric region|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)		TAGCTAAAGTTAAAAAAACAC	0.328													-	9565940	A	-	9565940	7	5	160	1	0	1	0	1	0	0	0	0	16316	363	13	0	1550	0	TNKS	8	9565940	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	6519459	9565940	136798082	505	87391											
RP1L1	94137	broad.mit.edu	37	chr8	10467926	10467926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcaggggcagctctgTcccctgtgtcaccagggtgc	14	12	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:10467926T>C	uc003wtc.2	-	4	3911	c.3682A>G	c.(3682-3684)ACA>GCA	p.T1228A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1228					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGCAGCTCTGTCCCCTGTGTC	0.577													C	10467926	T	C	10467926	3	2	160	1	0	0	0	0	1	0	0	0	13533	1667	58	3	3524	3	RP1L1	8	10467926	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	901986	10467926	135896096	506	87392											
RP1L1	94137	broad.mit.edu	37	chr8	10468442	10468442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctgctccggcctctgCaggggcctcggaaactccct	11	16	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:10468442C>T	uc003wtc.2	-	4	3395	c.3166G>A	c.(3166-3168)GCA>ACA	p.A1056T		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1056					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCGGCCTCTGCAGGGGCCTCG	0.672													T	10468442	C	T	10468442	3	4	160	1	0	0	0	0	1	0	0	0	13533	710	25	2	4040	2	RP1L1	8	10468442	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	516	10468442	135895580	507	87393											
FAM160B2	64760	broad.mit.edu	37	chr8	21958382	21958382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagacccctacttcacCgacagcttcctggattccgg	10	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:21958382C>T	uc011kyx.1	+	12	1566	c.1515C>T	c.(1513-1515)ACC>ACT	p.T505T	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	505											0						CCTACTTCACCGACAGCTTCC	0.567													T	21958382	C	T	21958382	2	4	160	1	0	0	0	0	0	0	0	1	5471	639	23	1		1	FAM160B2	8	21958382	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	11489940	21958382	124405640	508	87394											
LGI3	203190	broad.mit.edu	37	chr8	22012138	22012138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgtaaacttgttggagttGagtaacctgcagagacaaag	12	5	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:22012138G>A	uc003xav.2	-	3	574	c.285C>T	c.(283-285)CTC>CTT	p.L95L	LGI3_uc010ltu.2_Silent_p.L95L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	95	LRR 1.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGTTGGAGTTGAGTAACCTGC	0.562													A	22012138	G	A	22012138	2	1	160	1	0	0	0	0	0	0	0	1	8753	1277	45	4		4	LGI3	8	22012138	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	53756	22012138	124351884	509	87395											
KIAA1967	57805	broad.mit.edu	37	chr8	22473261	22473261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacttctagacggaacGcagaaactccagaggccacc	9	14	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:22473261G>A	uc003xch.2	+	13	1581	c.1444G>A	c.(1444-1446)GCA>ACA	p.A482T	KIAA1967_uc003xci.2_Missense_Mutation_p.A482T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A151T	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	482					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TAGACGGAACGCAGAAACTCC	0.587													A	22473261	G	A	22473261	3	1	160	1	0	0	0	0	1	0	0	0	8265	1087	38	1	1490	1	KIAA1967	8	22473261	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	461123	22473261	123890761	510	87396											
TRIM35	23087	broad.mit.edu	37	chr8	27146721	27146721	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttccagacgcggtactGcagggagcccaggtacttgc	12	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:27146721G>A	uc003xfl.1	-	5	944	c.862C>T	c.(862-864)CAG>TAG	p.Q288*	TRIM35_uc010lup.1_Missense_Mutation_p.A248V	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	288	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACGCGGTACTGCAGGGAGCCC	0.562													A	27146721	G	A	27146721	4	1	160	1	0	0	0	0	0	1	0	0	16506	1328	46	2	627	2	TRIM35	8	27146721	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4673460	27146721	119217301	511	87397											
CHRNA2	1135	broad.mit.edu	37	chr8	27327344	27327344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgaagtgttgggcacCgggcgcgcccagcggttgta	16	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:27327344C>T	uc010lur.2	-	3	837	c.228G>A	c.(226-228)CCG>CCA	p.P76P	CHRNA2_uc011lal.1_Silent_p.P76P|CHRNA2_uc010lus.2_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	76	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		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(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGTTGGGCACCGGGCGCGCCC	0.637													T	27327344	C	T	27327344	2	4	160	1	0	0	0	0	0	0	0	1	3383	639	23	1		1	CHRNA2	8	27327344	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	180623	27327344	119036678	512	87398											
TEX15	56154	broad.mit.edu	37	chr8	30695230	30695230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttctgcaaaagcgtcCcatggtctggtgaaaatgtg	11	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:30695230C>A	uc003xil.2	-	3	7421	c.7421G>T	c.(7420-7422)GGG>GTG	p.G2474V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2474										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGCGTCCCATGGTCTGG	0.393													A	30695230	C	A	30695230	3	1	160	1	0	0	0	0	1	0	0	0	15776	623	22	5	956	5	TEX15	8	30695230	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3367886	30695230	115668792	513	87399											
WRN	7486	broad.mit.edu	37	chr8	30945390	30945390	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctactaaagaagaagaagaAgatgatgaaaatgaagctaa	9	4	0	8	rs149565907	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:30945390A>T	uc003xio.3	+	12	2318	c.1530A>T	c.(1528-1530)GAA>GAT	p.E510D	WRN_uc011lbe.1_Missense_Mutation_p.E38D|WRN_uc010lvk.2_Translation_Start_Site	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	510	Poly-Glu.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		aagaagaagaagatgatgaaa	0.279			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				T	30945390	A	T	30945390	3	4	160	1	0	0	0	0	1	0	0	0	17399	69	3	5	1572	5	WRN	8	30945390	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	250160	30945390	115418632	514	87400											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730383	37730383	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcagaagaaccagaaTttggaaccggtgttaaactc	11	9	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:37730383T>G	uc003xkm.1	-	4	1981	c.1937A>C	c.(1936-1938)AAT>ACT	p.N646T	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	646					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGAACCAGAATTTGGAACCGG	0.522													G	37730383	T	G	37730383	3	3	160	1	0	0	0	0	1	0	0	0	12893	1493	52	5	1926	5	RAB11FIP1	8	37730383	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	6784993	37730383	108633639	515	87401											
MYST3	7994	broad.mit.edu	37	chr8	41836271	41836271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtccttttttcctaggtCgacatatttgacatatccac	5	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:41836271C>T	uc010lxb.2	-	7	1476	c.932G>A	c.(931-933)CGA>CAA	p.R311Q	MYST3_uc010lxc.2_Missense_Mutation_p.R311Q|MYST3_uc003xon.3_Missense_Mutation_p.R311Q|MYST3_uc010lxd.2_Missense_Mutation_p.R311Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	311	PHD-type 2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TTTCCTAGGTCGACATATTTG	0.348													T	41836271	C	T	41836271	3	4	160	1	0	0	0	0	1	0	0	0	10104	884	31	1	5130	1	MYST3	8	41836271	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4105888	41836271	104527751	516	87402											
PRKDC	5591	broad.mit.edu	37	chr8	48701529	48701529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcacccaaggctgcatAcattctttcatacatttttt	6	10	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:48701529A>G	uc003xqi.2	-	77	10897	c.10840T>C	c.(10840-10842)TAT>CAT	p.Y3614H	PRKDC_uc003xqj.2_Missense_Mutation_p.Y3614H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3614					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAGGCTGCATACATTCTTTCA	0.418								NHEJ					G	48701529	A	G	48701529	3	3	160	1	0	0	0	0	1	0	0	0	12521	391	14	3	1590	3	PRKDC	8	48701529	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	6865258	48701529	97662493	517	87403											
GGH	8836	broad.mit.edu	37	chr8	63939790	63939790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttagcataatctgagcGtctgaggtcaacacttcctc	7	12	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:63939790G>A	uc003xuw.2	-	4	593	c.310C>T	c.(310-312)CGC>TGC	p.R104C		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	104	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	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)	TAATCTGAGCGTCTGAGGTCA	0.378													A	63939790	G	A	63939790	3	1	160	1	0	0	0	0	1	0	0	0	6357	1145	40	1	670	1	GGH	8	63939790	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	15238261	63939790	82424232	518	87404											
C8orf46	254778	broad.mit.edu	37	chr8	67405953	67405953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtgattccttccaagGgtgagtgaaattgcccttga	10	11	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:67405953G>A	uc003xwg.2	+	1	463	c.70G>A	c.(70-72)GTA>ATA	p.V24I	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.V24I	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	24										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCCTTCCAAGGGTGAGTGAAA	0.498													A	67405953	G	A	67405953	3	1	160	1	0	0	0	0	1	0	0	0	2431	1246	43	4	72	4	C8orf46	8	67405953	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3466163	67405953	78958069	519	87405											
PREX2	80243	broad.mit.edu	37	chr8	69069574	69069574	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcactagagagcatggaaGgatattattacagagacaat	10	6	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:69069574G>T	uc003xxv.1	+	35	4276	c.4249G>T	c.(4249-4251)GGA>TGA	p.G1417*		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1417					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAGCATGGAAGGATATTATTA	0.343													T	69069574	G	T	69069574	4	4	160	1	0	0	0	0	0	1	0	0	12477	1001	35	5	4616	5	PREX2	8	69069574	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1663621	69069574	77294448	520	87406											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744535	70744535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaagcaacgggaatccGtgaggaccacgtagaggcac	14	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:70744535G>A	uc003xyl.2	-	2	1081	c.374C>T	c.(373-375)ACG>ATG	p.T125M	SLCO5A1_uc010lzb.2_Missense_Mutation_p.T125M|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.T125M|SLCO5A1_uc010lzc.2_Missense_Mutation_p.T125M	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	125	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACGGGAATCCGTGAGGACCAC	0.557											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70744535	G	A	70744535	3	1	160	1	0	0	0	0	1	0	0	0	14731	1145	40	1	2208	1	SLCO5A1	8	70744535	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1674961	70744535	75619487	521	87407											
EYA1	2138	broad.mit.edu	37	chr8	72123392	72123392	+	Splice_Site	DEL	T	T	-													accatctaggaatgctcaccTtttttgctccttgttcttct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:72123391_72123391CT>C	uc003xyu.3	-	17	2338	c.1698_splice	c.e17+1	p.K566_splice	EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	566					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)			GAATGCTCACCTTTTTTGCTC	0.358													-	72123392	T	-	72123392	8	5	160	1	0	1	0	1	0	0	1	0	5328	1623	56	0	89	0	EYA1	8	72123392	Splice_Site	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	1378857	72123392	74240630	522	87408											
SLC7A13	157724	broad.mit.edu	37	chr8	87230057	87230057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccatgtgatagctacaGcatctgcagaaaaacaaaaa	7	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:87230057G>A	uc003ydq.1	-	3	919	c.821C>T	c.(820-822)GCT>GTT	p.A274V	SLC7A13_uc003ydr.1_Missense_Mutation_p.A265V	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	274	Extracellular (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						GATAGCTACAGCATCTGCAGA	0.303													A	87230057	G	A	87230057	3	1	160	1	0	0	0	0	1	0	0	0	14695	971	34	2	599	2	SLC7A13	8	87230057	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	15106665	87230057	59133965	523	87409											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885021	88885021	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctgaagaattaaccgtaGgagaaacaataaaggtcctc	8	8	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:88885021G>T	uc003ydz.2	-	1	1276	c.1179C>A	c.(1177-1179)TCC>TCA	p.S393S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	393										ovary(1)	1						ATTAACCGTAGGAGAAACAAT	0.502													T	88885021	G	T	88885021	2	4	160	1	0	0	0	0	0	0	0	1	4272	987	35	5		5	DCAF4L2	8	88885021	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1654964	88885021	57479001	524	87410											
TMEM55A	55529	broad.mit.edu	37	chr8	92020972	92020972	+	Splice_Site	DEL	T	T	-													ccaatggtagggaacttacaTttttttgcagtgtgggcatt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:92020971_92020971AT>A	uc003yes.3	-	5	765	c.539_splice	c.e5+1	p.I180_splice		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	180						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCA	0.318													-	92020972	T	-	92020972	8	5	160	1	0	1	0	1	0	0	1	0	16178	1507	52	0	247	0	TMEM55A	8	92020972	Splice_Site	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	3135951	92020972	54343050	525	87411											
KIAA0196	9897	broad.mit.edu	37	chr8	126061300	126061300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgttgtaatttatgataCgagatacttcttcctgccaa	6	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:126061300C>T	uc003yrt.2	-	19	2656	c.2327G>A	c.(2326-2328)CGT>CAT	p.R776H	KIAA0196_uc011lir.1_Missense_Mutation_p.R628H|KIAA0196_uc003yru.1_Missense_Mutation_p.R350H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	776					cell death	WASH complex				ovary(2)	2	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)			ATTTATGATACGAGATACTTC	0.343													T	126061300	C	T	126061300	3	4	160	1	0	0	0	0	1	0	0	0	8161	536	19	1	1196	1	KIAA0196	8	126061300	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	34040328	126061300	20302722	526	87412											
ASAP1	50807	broad.mit.edu	37	chr8	131140189	131140189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctgatgagccacaatcGcagcaaatgtcattccctgg	8	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:131140189G>A	uc003yta.1	-	15	1393	c.1365C>T	c.(1363-1365)TGC>TGT	p.C455C	ASAP1_uc003ysz.1_Silent_p.C266C|ASAP1_uc011liw.1_Silent_p.C448C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	455	Arf-GAP.|C4-type.				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			ovary(4)	4						AGCCACAATCGCAGCAAATGT	0.458													A	131140189	G	A	131140189	2	1	160	1	0	0	0	0	0	0	0	1	1010	1079	38	1		1	ASAP1	8	131140189	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5078889	131140189	15223833	527	87413											
ASAP1	50807	broad.mit.edu	37	chr8	131172126	131172126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacccgtcacttttctttaGcaggtaccccttcttttcac	4	14	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:131172126G>A	uc003yta.1	-	11	1022	c.994C>T	c.(994-996)CTA>TTA	p.L332L	ASAP1_uc003ysz.1_Silent_p.L143L|ASAP1_uc011liw.1_Silent_p.L325L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	332	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			ovary(4)	4						CTTTTCTTTAGCAGGTACCCC	0.448													A	131172126	G	A	131172126	2	1	160	1	0	0	0	0	0	0	0	1	1010	962	34	2		2	ASAP1	8	131172126	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	31937	131172126	15191896	528	87414											
TG	7038	broad.mit.edu	37	chr8	133906122	133906122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccccgggaggctttcgcGgagcagtttctgcgtgggag	17	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:133906122G>A	uc003ytw.2	+	11	2990	c.2949G>A	c.(2947-2949)GCG>GCA	p.A983A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	983	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		AGGCTTTCGCGGAGCAGTTTC	0.602													A	133906122	G	A	133906122	2	1	160	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TG	8	133906122	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2733996	133906122	12457900	529	87415											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488254	134488254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactttcagggtcctcttcCgcagggtcaccatcttcgca	9	15	4	0	rs145602093		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:134488254C>T	uc003yuk.2	-	5	843	c.14G>A	c.(13-15)CGG>CAG	p.R5Q	ST3GAL1_uc003yum.2_Missense_Mutation_p.R5Q	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	5	Cytoplasmic (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	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)			GGTCCTCTTCCGCAGGGTCAC	0.547													T	134488254	C	T	134488254	3	4	160	1	0	0	0	0	1	0	0	0	15213	652	23	1	1032	1	ST3GAL1	8	134488254	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	582132	134488254	11875768	530	87416											
BAI1	575	broad.mit.edu	37	chr8	143614778	143614778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcttcgctgtcttcgactCgctggagggcttcgtcatcg	11	14	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:143614778C>T	uc003ywm.2	+	24	3704	c.3521C>T	c.(3520-3522)TCG>TTG	p.S1174L		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1174	Helical; Name=7; (Potential).				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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					GTCTTCGACTCGCTGGAGGGC	0.672													T	143614778	C	T	143614778	3	4	160	1	0	0	0	0	1	0	0	0	1298	893	31	1	3615	1	BAI1	8	143614778	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9126524	143614778	2749244	531	87417											
ZNF623	9831	broad.mit.edu	37	chr8	144733545	144733545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttaactcaactacaaaCgttaaaaataatcaaagggt	5	6	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144733545C>T	uc003yzd.2	+	1	1592	c.1503C>T	c.(1501-1503)AAC>AAT	p.N501N	ZNF623_uc011lkp.1_Silent_p.N461N|ZNF623_uc003yzc.2_Silent_p.N461N	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			CAACTACAAACGTTAAAAATA	0.408													T	144733545	C	T	144733545	2	4	160	1	0	0	0	0	0	0	0	1	18044	535	19	1		1	ZNF623	8	144733545	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1118767	144733545	1630477	532	87418											
PLEC	5339	broad.mit.edu	37	chr8	144991091	144991091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttatccaccaggttccGgtgcatggcctcggtgatgg	14	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144991091G>A	uc003zaf.1	-	32	13479	c.13309C>T	c.(13309-13311)CGG>TGG	p.R4437W	PLEC_uc003zab.1_Missense_Mutation_p.R4300W|PLEC_uc003zac.1_Missense_Mutation_p.R4304W|PLEC_uc003zad.2_Missense_Mutation_p.R4300W|PLEC_uc003zae.1_Missense_Mutation_p.R4268W|PLEC_uc003zag.1_Missense_Mutation_p.R4278W|PLEC_uc003zah.2_Missense_Mutation_p.R4286W|PLEC_uc003zaj.2_Missense_Mutation_p.R4327W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4437	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACCAGGTTCCGGTGCATGGCC	0.677													A	144991091	G	A	144991091	3	1	160	1	0	0	0	0	1	0	0	0	12052	1115	39	1	749	1	PLEC	8	144991091	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	257546	144991091	1372931	533	87419											
PLEC	5339	broad.mit.edu	37	chr8	144991208	144991208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgggtcctggagacggCggggctgatggggtaggagg	22	7	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144991208C>T	uc003zaf.1	-	32	13362	c.13192G>A	c.(13192-13194)GCC>ACC	p.A4398T	PLEC_uc003zab.1_Missense_Mutation_p.A4261T|PLEC_uc003zac.1_Missense_Mutation_p.A4265T|PLEC_uc003zad.2_Missense_Mutation_p.A4261T|PLEC_uc003zae.1_Missense_Mutation_p.A4229T|PLEC_uc003zag.1_Missense_Mutation_p.A4239T|PLEC_uc003zah.2_Missense_Mutation_p.A4247T|PLEC_uc003zaj.2_Missense_Mutation_p.A4288T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4398	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTGGAGACGGCGGGGCTGATG	0.667													T	144991208	C	T	144991208	3	4	160	1	0	0	0	0	1	0	0	0	12052	768	27	1	866	1	PLEC	8	144991208	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	117	144991208	1372814	534	87420											
PLEC	5339	broad.mit.edu	37	chr8	144992277	144992277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagcgccgtggcctcGtccatgacctgcgagcgcac	13	16	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144992277G>A	uc003zaf.1	-	32	12293	c.12123C>T	c.(12121-12123)GAC>GAT	p.D4041D	PLEC_uc003zab.1_Silent_p.D3904D|PLEC_uc003zac.1_Silent_p.D3908D|PLEC_uc003zad.2_Silent_p.D3904D|PLEC_uc003zae.1_Silent_p.D3872D|PLEC_uc003zag.1_Silent_p.D3882D|PLEC_uc003zah.2_Silent_p.D3890D|PLEC_uc003zaj.2_Silent_p.D3931D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4041	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCGTGGCCTCGTCCATGACCT	0.652													A	144992277	G	A	144992277	2	1	160	1	0	0	0	0	0	0	0	1	12052	1136	40	1		1	PLEC	8	144992277	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1069	144992277	1371745	535	87421											
KIFC2	90990	broad.mit.edu	37	chr8	145692675	145692675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggggaggcaggccctGctccaggggactcagccagc	16	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:145692675G>A	uc003zcz.2	+	4	485	c.420G>A	c.(418-420)CTG>CTA	p.L140L	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	140					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)			GGCAGGCCCTGCTCCAGGGGA	0.622											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	145692675	G	A	145692675	2	1	160	1	0	0	0	0	0	0	0	1	8313	1306	46	2		2	KIFC2	8	145692675	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	700398	145692675	671347	536	87422											
ZNF16	7564	broad.mit.edu	37	chr8	146156815	146156815	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttttctccagtgtgaattCtccgatgctgaataaggctg	10	9	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:146156815C>A	uc003zet.2	-	4	1545	c.1358G>T	c.(1357-1359)AGA>ATA	p.R453I	ZNF16_uc003zeu.2_Missense_Mutation_p.R453I	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	453	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	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)		AGTGTGAATTCTCCGATGCTG	0.478													A	146156815	C	A	146156815	3	1	160	1	0	0	0	0	1	0	0	0	17735	913	32	5	694	5	ZNF16	8	146156815	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	464140	146156815	207207	537	87423											
C8orf33	65265	broad.mit.edu	37	chr8	146278795	146278795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagggctcagatggaagcCgaatggcgtgaggccctgcg	16	9	1	2	rs149041357	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:146278795C>T	uc003zfc.3	+	4	570	c.516C>T	c.(514-516)GCC>GCT	p.A172A	C8orf33_uc003zfd.2_RNA	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	172											0	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)		AGATGGAAGCCGAATGGCGTG	0.567													T	146278795	C	T	146278795	2	4	160	1	0	0	0	0	0	0	0	1	2421	639	23	1		1	C8orf33	8	146278795	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	121980	146278795	85227	538	87424											
FOXD4	2298	broad.mit.edu	37	chr9	117579	117579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtcctgggaggcggggtCcaggctccagtagttgccct	15	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:117579C>T	uc003zfz.2	-	1	839	c.541G>A	c.(541-543)GAC>AAC	p.D181N		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	181	Fork-head.				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			skin(1)	1	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)		GAGGCGGGGTCCAGGCTCCAG	0.662													T	117579	C	T	117579	3	4	160	1	0	0	0	0	1	0	0	0	5999	855	30	4	782	4	FOXD4	9	117579	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		117579	141095852	539	87425											
DMRT3	58524	broad.mit.edu	37	chr9	990066	990066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaagaacgacttggagaCggcaagtcggcagacaatac	12	9	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:990066C>T	uc003zgw.1	+	2	518	c.480C>T	c.(478-480)GAC>GAT	p.D160D		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	160					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GACTTGGAGACGGCAAGTCGG	0.488													T	990066	C	T	990066	2	4	160	1	0	0	0	0	0	0	0	1	4587	535	19	1		1	DMRT3	9	990066	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	872487	990066	140223365	540	87426											
MPDZ	8777	broad.mit.edu	37	chr9	13190239	13190239	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgacccgcatcagtcatCgccagcactggatcctctgt	8	16	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:13190239C>T	uc010mia.1	-	15	2085	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A	MPDZ_uc010mhy.2_Silent_p.A676A|MPDZ_uc010mhz.2_Silent_p.A676A|MPDZ_uc011lmn.1_Silent_p.A676A|MPDZ_uc003zlb.3_Silent_p.A676A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	676					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CATCAGTCATCGCCAGCACTG	0.507													T	13190239	C	T	13190239	2	4	160	1	0	0	0	0	0	0	0	1	9722	871	31	1		1	MPDZ	9	13190239	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	12200173	13190239	128023192	541	87427											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504847	18504847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttccaggaccgcacgctcCgaggaggaccgggacggcct	15	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:18504847C>T	uc003zne.3	+	2	211	c.84C>T	c.(82-84)TCC>TCT	p.S28S	ADAMTSL1_uc003znb.2_Silent_p.S28S|ADAMTSL1_uc003znc.3_Silent_p.S28S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	28						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CCGCACGCTCCGAGGAGGACC	0.582													T	18504847	C	T	18504847	2	4	160	1	0	0	0	0	0	0	0	1	274	639	23	1		1	ADAMTSL1	9	18504847	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5314608	18504847	122708584	542	87428											
SLC24A2	25769	broad.mit.edu	37	chr9	19622274	19622274	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaccggtagagttggttcAtccttgtccctggctgcaga	11	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:19622274A>C	uc003zoa.1	-	2	1016	c.954T>G	c.(952-954)GAT>GAG	p.D318E	SLC24A2_uc003zob.1_Missense_Mutation_p.D318E	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	318	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAGTTGGTTCATCCTTGTCCC	0.463													C	19622274	A	C	19622274	3	2	160	1	0	0	0	0	1	0	0	0	14466	214	8	5	1067	5	SLC24A2	9	19622274	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1117427	19622274	121591157	543	87429											
TAF1L	138474	broad.mit.edu	37	chr9	32630586	32630586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcatacatatcaggaggCtgagatgtgtagggccctgg	14	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:32630586C>T	uc003zrg.1	-	1	5082	c.4992G>A	c.(4990-4992)CAG>CAA	p.Q1664Q	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1664					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATCAGGAGGCTGAGATGTGT	0.453													T	32630586	C	T	32630586	2	4	160	1	0	0	0	0	0	0	0	1	15520	796	28	2		2	TAF1L	9	32630586	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	13008312	32630586	108582845	544	87430											
APTX	54840	broad.mit.edu	37	chr9	32987827	32987827	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attacgactgagtcaatgctGgtgggattgactcctaccta	10	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:32987827G>T	uc003zrm.2	-	3	395	c.198C>A	c.(196-198)ACC>ACA	p.T66T	APTX_uc010mjm.2_Intron|APTX_uc003zrj.2_5'UTR|APTX_uc011lns.1_Intron|APTX_uc003zrl.2_Intron|APTX_uc003zrn.2_5'UTR|APTX_uc003zro.2_Silent_p.T66T|APTX_uc003zrp.2_5'UTR|APTX_uc003zrq.2_5'UTR|APTX_uc003zrr.2_Intron|APTX_uc003zrs.2_Silent_p.T66T|APTX_uc003zrt.2_5'UTR|APTX_uc003zru.2_Intron|APTX_uc003zrv.2_Silent_p.T80T|APTX_uc003zrw.2_Silent_p.T66T|APTX_uc003zrx.2_Silent_p.T66T|APTX_uc003zry.2_Silent_p.T66T|APTX_uc003zrz.2_Intron|APTX_uc003zsa.1_Intron|APTX_uc003zsb.1_Intron|APTX_uc003zsc.1_Intron	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	80	Interactions with ADPRT and NCL.|FHA-like.				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			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		AGTCAATGCTGGTGGGATTGA	0.408								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	32987827	G	T	32987827	2	4	160	1	0	0	0	0	0	0	0	1	820	1335	47	5		5	APTX	9	32987827	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	357241	32987827	108225604	545	87431											
NFX1	4799	broad.mit.edu	37	chr9	33294992	33294992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgaacaactccaaaaccGgaggatgctggacccgaaag	10	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:33294992G>A	uc003zsq.2	+	2	661	c.600G>A	c.(598-600)CCG>CCA	p.P200P	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Silent_p.P200P|NFX1_uc003zso.2_Silent_p.P200P|NFX1_uc003zsp.1_Silent_p.P200P|NFX1_uc010mjr.1_Silent_p.P200P|NFX1_uc003zsr.2_Silent_p.P200P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	200					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTCCAAAACCGGAGGATGCTG	0.468													A	33294992	G	A	33294992	2	1	160	1	0	0	0	0	0	0	0	1	10387	1103	39	1		1	NFX1	9	33294992	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	307165	33294992	107918439	546	87432											
KIAA1161	57462	broad.mit.edu	37	chr9	34371970	34371970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtccacggcgcgcccGtacagcgcccatgtggacca	12	17	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:34371970G>A	uc003zue.3	-	3	1139	c.972C>T	c.(970-972)TAC>TAT	p.Y324Y		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	324	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGGCGCGCCCGTACAGCGCCC	0.597													A	34371970	G	A	34371970	2	1	160	1	0	0	0	0	0	0	0	1	8211	1140	40	1		1	KIAA1161	9	34371970	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1076978	34371970	106841461	547	87433											
ENHO	375704	broad.mit.edu	37	chr9	34521556	34521556	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctggagttgggactggaTtcagagagagagtcaacgtc	17	6	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:34521556T>C	uc003zun.1	-	2	562	c.138A>G	c.(136-138)GAA>GAG	p.E46E	ENHO_uc003zuo.2_RNA	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN	adropin precursor	46						extracellular region					0						TGGGACTGGATTCAGAGAGAG	0.632													C	34521556	T	C	34521556	2	2	160	1	0	0	0	0	0	0	0	1	5119	1490	52	3		3	ENHO	9	34521556	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	149586	34521556	106691875	548	87434											
KIAA1045	23349	broad.mit.edu	37	chr9	34976565	34976565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggaggactttctgcgttAccgccaccaagcagccaagc	10	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:34976565A>G	uc003zvq.2	+	5	855	c.677A>G	c.(676-678)TAC>TGC	p.Y226C	KIAA1045_uc003zvr.2_Missense_Mutation_p.Y226C	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	226							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTTCTGCGTTACCGCCACCAA	0.637													G	34976565	A	G	34976565	3	3	160	1	0	0	0	0	1	0	0	0	8207	391	14	3	691	3	KIAA1045	9	34976565	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	455009	34976565	106236866	549	87435											
PIGO	84720	broad.mit.edu	37	chr9	35091523	35091523	+	Frame_Shift_Del	DEL	G	G	-													tccaagtcagcttgagaagtGggggggcctgagaagggagt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35091522_35091522TG>T	uc003zwd.3	-	6	2758	c.2362_2362CA>A	c.(2362-2364)actfs	p.T788fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.T351fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCT	0.602													-	35091523	G	-	35091523	7	5	160	1	0	1	0	1	0	0	0	0	11894	1335	47	0	928	0	PIGO	9	35091523	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	114958	35091523	106121908	550	87436											
RUSC2	9853	broad.mit.edu	37	chr9	35547473	35547473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccactcagaccctggcGccttctatctggatctgcag	10	15	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35547473G>A	uc003zww.2	+	2	1210	c.955G>A	c.(955-957)GCC>ACC	p.A319T	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A319T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	319						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCCTGGCGCCTTCTATCT	0.567													A	35547473	G	A	35547473	3	1	160	1	0	0	0	0	1	0	0	0	13751	1087	38	1	957	1	RUSC2	9	35547473	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	455950	35547473	105665958	551	87437											
GBA2	57704	broad.mit.edu	37	chr9	35737772	35737772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggtagctgccagcccGtagaccacacccacccagac	8	17	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35737772G>A	uc003zxw.2	-	16	3002	c.2478C>T	c.(2476-2478)TAC>TAT	p.Y826Y	GBA2_uc003zxx.1_Silent_p.Y121Y|GBA2_uc011lpb.1_Silent_p.Y826Y|GBA2_uc011lpc.1_Silent_p.Y826Y|GBA2_uc011lpd.1_Silent_p.Y832Y	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	826	Cytoplasmic (Potential).				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			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCCAGCCCGTAGACCACAC	0.537													A	35737772	G	A	35737772	2	1	160	1	0	0	0	0	0	0	0	1	6267	1140	40	1		1	GBA2	9	35737772	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	190299	35737772	105475659	552	87438											
RGP1	9827	broad.mit.edu	37	chr9	35751682	35751682	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtttggcatcttcaaatcTgtgtacagacttggcgagga	11	8	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35751682T>C	uc011lpf.1	+	7	834	c.693T>C	c.(691-693)TCT>TCC	p.S231S	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Silent_p.S271S	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	231										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTCAAATCTGTGTACAGAC	0.488													C	35751682	T	C	35751682	2	2	160	1	0	0	0	0	0	0	0	1	13284	1567	55	3		3	RGP1	9	35751682	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	13910	35751682	105461749	553	87439											
GNE	10020	broad.mit.edu	37	chr9	36246267	36246267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggattcggatgttcAtcaaggcagcagatgtggcc	14	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:36246267A>G	uc010mlh.2	-	3	592	c.377T>C	c.(376-378)ATG>ACG	p.M126T	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M126T|GNE_uc011lpl.1_Missense_Mutation_p.M67T|GNE_uc010mli.2_Missense_Mutation_p.M157T|GNE_uc010mlj.2_Missense_Mutation_p.M121T	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	126	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			TCGGATGTTCATCAAGGCAGC	0.478													G	36246267	A	G	36246267	3	3	160	1	0	0	0	0	1	0	0	0	6522	217	8	3	1831	3	GNE	9	36246267	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	494585	36246267	104967164	554	87440											
MCART1	92014	broad.mit.edu	37	chr9	37888456	37888456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccacacaagtaatgcttcAtctcaccaacatttgtaata	4	11	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:37888456A>G	uc004aau.2	-	3	836	c.92T>C	c.(91-93)ATG>ACG	p.M31T	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.M31T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	31	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)		GTAATGCTTCATCTCACCAAC	0.408													G	37888456	A	G	37888456	3	3	160	1	0	0	0	0	1	0	0	0	9369	217	8	3	805	3	MCART1	9	37888456	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1642189	37888456	103324975	555	87441											
CNTNAP3	79937	broad.mit.edu	37	chr9	39176052	39176052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttttacgtctgaatgccCgcgatcttccgggtgtcgga	12	11	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:39176052C>T	uc004abi.2	-	7	1204	c.965G>A	c.(964-966)CGG>CAG	p.R322Q	CNTNAP3_uc004abj.2_Missense_Mutation_p.R322Q|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.R322Q|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R322Q|CNTNAP3_uc004abl.1_Missense_Mutation_p.R234Q	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	322	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGAATGCCCGCGATCTTCC	0.383													T	39176052	C	T	39176052	3	4	160	1	0	0	0	0	1	0	0	0	3648	652	23	1	2973	1	CNTNAP3	9	39176052	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1287596	39176052	102037379	556	87442											
C9orf135	138255	broad.mit.edu	37	chr9	72435828	72435828	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagatcctgccaggactgGtgcgacaggaagcaacactg	13	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:72435828G>A	uc004ahl.2	+	1	98	c.33G>A	c.(31-33)TGG>TGA	p.W11*	C9orf135_uc011lrw.1_Translation_Start_Site|C9orf135_uc010moq.2_Translation_Start_Site|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Nonsense_Mutation_p.W11*|uc004ahk.2_5'Flank	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	11	Extracellular (Potential).					integral to membrane				ovary(1)	1						GCCAGGACTGGTGCGACAGGA	0.592													A	72435828	G	A	72435828	4	1	160	1	0	0	0	0	0	1	0	0	2458	1270	44	4	35	4	C9orf135	9	72435828	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	33259776	72435828	68777603	557	87443											
TRPM6	140803	broad.mit.edu	37	chr9	77354736	77354736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatgaaaacttgtcccGgcttgagaatgtcatcctca	8	10	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:77354736G>A	uc004ajl.1	-	34	5628	c.5390C>T	c.(5389-5391)CCG>CTG	p.P1797L	TRPM6_uc004ajk.1_Missense_Mutation_p.P1792L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.P748L|TRPM6_uc010mpd.1_Missense_Mutation_p.P630L|TRPM6_uc010mpe.1_Missense_Mutation_p.P344L|TRPM6_uc004ajj.1_Missense_Mutation_p.P753L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1797	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AACTTGTCCCGGCTTGAGAAT	0.507													A	77354736	G	A	77354736	3	1	160	1	0	0	0	0	1	0	0	0	16587	1116	39	1	702	1	TRPM6	9	77354736	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4918908	77354736	63858695	558	87444											
PRUNE2	158471	broad.mit.edu	37	chr9	79267433	79267433	+	Frame_Shift_Del	DEL	G	G	-													tcaaaagaatctgcttcatcGggggtatcaagttcatccac							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:79267432_79267432CG>C	uc010mpk.3	-	10	8648	c.8524_8524CG>G	c.(8524-8526)gatfs	p.D2842fs	PRUNE2_uc011lsk.2_Frame_Shift_Del_p.D91fs|PRUNE2_uc011lsl.2_Frame_Shift_Del_p.D106fs|PRUNE2_uc011lsm.2_Frame_Shift_Del_p.D106fs|PRUNE2_uc004akj.4_Frame_Shift_Del_p.D295fs|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Frame_Shift_Del_p.D295fs	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2842					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCTTCATCGGGGGTATCA	0.393													-	79267433	G	-	79267433	7	5	160	1	0	1	0	1	0	0	0	0	12641	1103	39	0	779	0	PRUNE2	9	79267433	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	1912697	79267433	61945998	559	87445											
PRUNE2	158471	broad.mit.edu	37	chr9	79469112	79469112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatggaccttctccaagcGtttgcttcgattctgaaaca	7	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:79469112G>A	uc010mpk.2	-	2	173	c.49C>T	c.(49-51)CGC>TGC	p.R17C	PRUNE2_uc004akn.2_Missense_Mutation_p.R17C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	17					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTCTCCAAGCGTTTGCTTCGA	0.338													A	79469112	G	A	79469112	3	1	160	1	0	0	0	0	1	0	0	0	12641	1145	40	1	9289	1	PRUNE2	9	79469112	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	201679	79469112	61744319	560	87446											
TLE1	7088	broad.mit.edu	37	chr9	84205815	84205815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggctgatggccagggcGtagcaggcgggggccgagga	22	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:84205815G>A	uc004aly.2	-	16	2175	c.1734C>T	c.(1732-1734)TAC>TAT	p.Y578Y	TLE1_uc004alz.2_Silent_p.Y588Y|TLE1_uc011lsr.1_Silent_p.Y563Y|TLE1_uc004ama.1_Silent_p.Y577Y	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	578	WD 3.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TGGCCAGGGCGTAGCAGGCGG	0.617													A	84205815	G	A	84205815	2	1	160	1	0	0	0	0	0	0	0	1	15935	1140	40	1		1	TLE1	9	84205815	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4736703	84205815	57007616	561	87447											
FLJ46321	389763	broad.mit.edu	37	chr9	84605984	84605984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaccccccttaattcTctcacctgacctgatcacca	2	20	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:84605984T>C	uc004amn.2	+	4	646	c.599T>C	c.(598-600)CTC>CCC	p.L200P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	200	Pro-rich.					integral to membrane					0						CCCTTAATTCTCTCACCTGAC	0.552													C	84605984	T	C	84605984	3	2	160	1	0	0	0	0	1	0	0	0	5932	1551	54	3	613	3	FLJ46321	9	84605984	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	400169	84605984	56607447	562	87448											
AUH	549	broad.mit.edu	37	chr9	94060317	94060317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaccaccacctaaagCgagtccatctattgctgcaa	6	13	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:94060317C>T	uc004arf.3	-	5	582	c.547G>A	c.(547-549)GCT>ACT	p.A183T	AUH_uc004arg.3_Missense_Mutation_p.A154T|AUH_uc011ltu.1_Missense_Mutation_p.A183T	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	183					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						CCACCTAAAGCGAGTCCATCT	0.343													T	94060317	C	T	94060317	3	4	160	1	0	0	0	0	1	0	0	0	1219	768	27	1	496	1	AUH	9	94060317	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9454333	94060317	47153114	563	87449											
IPPK	64768	broad.mit.edu	37	chr9	95410357	95410357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgaggtgctggtgcAtgcagtatcgacagacctta	11	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:95410357A>G	uc004asl.1	-	6	765	c.488T>C	c.(487-489)ATG>ACG	p.M163T		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	163					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						GTGCTGGTGCATGCAGTATCG	0.483													G	95410357	A	G	95410357	3	3	160	1	0	0	0	0	1	0	0	0	7801	217	8	3	1019	3	IPPK	9	95410357	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1350040	95410357	45803074	564	87450											
ZNF367	195828	broad.mit.edu	37	chr9	99160514	99160514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctattacagatgttacaaCggattctgctggatgaatgc	9	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:99160514C>T	uc004awf.2	-	2	858	c.503G>A	c.(502-504)CGT>CAT	p.R168H	ZNF367_uc004awg.2_Missense_Mutation_p.R168H	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	168	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				GATGTTACAACGGATTCTGCT	0.433													T	99160514	C	T	99160514	3	4	160	1	0	0	0	0	1	0	0	0	17868	536	19	1	565	1	ZNF367	9	99160514	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3750157	99160514	42052917	565	87451											
TSTD2	158427	broad.mit.edu	37	chr9	100380087	100380087	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagctgtctgccaggcacaGatccattggggatcctccag	12	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:100380087G>T	uc004axn.2	-	4	1043	c.555C>A	c.(553-555)ATC>ATA	p.I185I	TSTD2_uc004axo.2_Translation_Start_Site|TSTD2_uc004axp.1_Translation_Start_Site	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	185										ovary(2)	2						GCCAGGCACAGATCCATTGGG	0.512													T	100380087	G	T	100380087	2	4	160	1	0	0	0	0	0	0	0	1	16672	932	33	5		5	TSTD2	9	100380087	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1219573	100380087	40833344	566	87452											
HEMGN	55363	broad.mit.edu	37	chr9	100693288	100693288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttcagaaaagtgttccTcaggcacaactttttgcggg	9	8	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:100693288T>C	uc004axy.2	-	3	497	c.389A>G	c.(388-390)GAG>GGG	p.E130G	HEMGN_uc004axz.2_Missense_Mutation_p.E130G	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	130					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				AAAGTGTTCCTCAGGCACAAC	0.403													C	100693288	T	C	100693288	3	2	160	1	0	0	0	0	1	0	0	0	7050	1551	54	3	1073	3	HEMGN	9	100693288	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	313201	100693288	40520143	567	87453											
CORO2A	7464	broad.mit.edu	37	chr9	100895424	100895424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggacatggagaggatcaCatcttggtgacagctaatcg	13	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:100895424C>T	uc004ayl.2	-	5	810	c.544G>A	c.(544-546)GTG>ATG	p.V182M	CORO2A_uc004aym.2_Missense_Mutation_p.V182M	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	182	WD 3.				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				GAGAGGATCACATCTTGGTGA	0.542													T	100895424	C	T	100895424	3	4	160	1	0	0	0	0	1	0	0	0	3756	478	17	4	1065	4	CORO2A	9	100895424	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	202136	100895424	40318007	568	87454											
TBC1D2	55357	broad.mit.edu	37	chr9	101014085	101014085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagctcgaggtgcaggaCgggcccattcccagccaggg	14	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:101014085C>T	uc011lvb.1	-	2	673	c.493G>A	c.(493-495)GTC>ATC	p.V165I	TBC1D2_uc004ayq.2_Missense_Mutation_p.V165I|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.V165I	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	165	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGCAGGACGGGCCCATTC	0.637													T	101014085	C	T	101014085	3	4	160	1	0	0	0	0	1	0	0	0	15605	536	19	1	2308	1	TBC1D2	9	101014085	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	118661	101014085	40199346	569	87455											
PPP3R2	5535	broad.mit.edu	37	chr9	104357023	104357023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccgtcggtgtcgaagaCgtcgatcactcgccgcacca	10	15	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:104357023C>T	uc004bbr.2	-	1	261	c.190G>A	c.(190-192)GTC>ATC	p.V64I	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	61	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GTGTCGAAGACGTCGATCACT	0.567													T	104357023	C	T	104357023	3	4	160	1	0	0	0	0	1	0	0	0	12401	536	19	1	335	1	PPP3R2	9	104357023	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3342938	104357023	36856408	570	87456											
SLC44A1	23446	broad.mit.edu	37	chr9	108126852	108126852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaggcagtcctgttcagaaTgagcaaggctttgtggagtt	13	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:108126852T>C	uc004bcn.2	+	10	1325	c.1104T>C	c.(1102-1104)AAT>AAC	p.N368N	SLC44A1_uc010mtk.1_Silent_p.N368N|SLC44A1_uc004bco.1_Silent_p.N160N	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	368	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	CTGTTCAGAATGAGCAAGGCT	0.428													C	108126852	T	C	108126852	2	2	160	1	0	0	0	0	0	0	0	1	14635	1461	51	3		3	SLC44A1	9	108126852	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	3769829	108126852	33086579	571	87457											
ZNF483	158399	broad.mit.edu	37	chr9	114304716	114304716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaaatgtgatgactgtGggaaaggtttcaccctaagt	10	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:114304716G>T	uc004bff.2	+	6	1725	c.1501G>T	c.(1501-1503)GGG>TGG	p.G501W	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	501	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						TGATGACTGTGGGAAAGGTTT	0.388													T	114304716	G	T	114304716	3	4	160	1	0	0	0	0	1	0	0	0	17933	1348	47	5	1519	5	ZNF483	9	114304716	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	6177864	114304716	26908715	572	87458											
C9orf84	158401	broad.mit.edu	37	chr9	114453877	114453877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatgaagattcatggtgCcttttctgtcctaaactttt	6	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:114453877C>T	uc004bfr.2	-	25	4323	c.4188G>A	c.(4186-4188)AGG>AGA	p.R1396R	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.R1357R|C9orf84_uc010mug.2_Silent_p.R1307R	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1396										ovary(2)	2						ATTCATGGTGCCTTTTCTGTC	0.313													T	114453877	C	T	114453877	2	4	160	1	0	0	0	0	0	0	0	1	2500	738	26	2		2	C9orf84	9	114453877	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	149161	114453877	26759554	573	87459											
ZFP37	7539	broad.mit.edu	37	chr9	115805249	115805249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggctaaaggctttcccaCattcattacactcatacggt	6	11	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:115805249C>T	uc004bgm.1	-	4	1677	c.1649G>A	c.(1648-1650)TGT>TAT	p.C550Y	ZFP37_uc011lwz.1_Missense_Mutation_p.C565Y|ZFP37_uc011lxa.1_Missense_Mutation_p.C551Y	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	550	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGCTTTCCCACATTCATTACA	0.378													T	115805249	C	T	115805249	3	4	160	1	0	0	0	0	1	0	0	0	17645	478	17	4	247	4	ZFP37	9	115805249	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1351372	115805249	25408182	574	87460											
CEP110	11064	broad.mit.edu	37	chr9	123903687	123903687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcagatgtcttagggAaaagtcttgctgatttacag	10	7	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:123903687A>G	uc004bkx.1	+	16	2543	c.2512A>G	c.(2512-2514)AAA>GAA	p.K838E	CEP110_uc004bky.1_Missense_Mutation_p.K442E|CEP110_uc004bkz.1_Missense_Mutation_p.K286E|CEP110_uc004bla.1_Missense_Mutation_p.K286E|CEP110_uc010mvo.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	838					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						TGTCTTAGGGAAAAGTCTTGC	0.383													G	123903687	A	G	123903687	3	3	160	1	0	0	0	0	1	0	0	0	3245	247	9	3	2574	3	CEP110	9	123903687	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	8098438	123903687	17309744	575	87461											
OR1L8	138881	broad.mit.edu	37	chr9	125330410	125330410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaggccatgactgccAgaaggcagctgtcactgttg	13	10	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:125330410A>G	uc004bmp.1	-	1	347	c.347T>C	c.(346-348)CTG>CCG	p.L116P		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3						CATGACTGCCAGAAGGCAGCT	0.527													G	125330410	A	G	125330410	3	3	160	1	0	0	0	0	1	0	0	0	10967	188	7	3	586	3	OR1L8	9	125330410	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1426723	125330410	15883021	576	87462											
OR1K1	392392	broad.mit.edu	37	chr9	125562752	125562752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatagctgtcttctggcGgccatggcctatgactgcta	11	11	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:125562752G>A	uc011lze.1	+	1	351	c.351G>A	c.(349-351)GCG>GCA	p.A117A		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTCTTCTGGCGGCCATGGCCT	0.612													A	125562752	G	A	125562752	2	1	160	1	0	0	0	0	0	0	0	1	10962	1103	39	1		1	OR1K1	9	125562752	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	232342	125562752	15650679	577	87463											
NR5A1	2516	broad.mit.edu	37	chr9	127262453	127262453	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccattctgcacaggaggccGaaggccgccggctggtcggg	17	13	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:127262453G>A	uc004boo.1	-	4	973	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	262	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						ACAGGAGGCCGAAGGCCGCCG	0.662													A	127262453	G	A	127262453	2	1	160	1	0	0	0	0	0	0	0	1	10635	1049	37	1		1	NR5A1	9	127262453	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1699701	127262453	13950978	578	87464											
RABEPK	10244	broad.mit.edu	37	chr9	127965332	127965332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaacctggagacaagcccAggaaagcaacatggtctgta	12	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:127965332A>G	uc004bpi.2	+	3	213	c.40A>G	c.(40-42)AGG>GGG	p.R14G	RABEPK_uc004bph.1_Missense_Mutation_p.R14G|RABEPK_uc004bpj.2_Missense_Mutation_p.R14G|RABEPK_uc004bpk.2_Missense_Mutation_p.R14G|RABEPK_uc004bpl.1_Missense_Mutation_p.R14G|RABEPK_uc004bpm.2_Missense_Mutation_p.R14G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	14					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						AGACAAGCCCAGGAAAGCAAC	0.363													G	127965332	A	G	127965332	3	3	160	1	0	0	0	0	1	0	0	0	12963	179	7	3	42	3	RABEPK	9	127965332	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	702879	127965332	13248099	579	87465											
SPTAN1	6709	broad.mit.edu	37	chr9	131346761	131346761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttgaggatgaggagacGtggattcgagagaaagagcc	17	4	0	5			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131346761G>A	uc004bvl.3	+	17	2507	c.2394G>A	c.(2392-2394)ACG>ACA	p.T798T	SPTAN1_uc011mbg.1_Silent_p.T798T|SPTAN1_uc011mbh.1_Silent_p.T810T|SPTAN1_uc004bvm.3_Silent_p.T798T|SPTAN1_uc004bvn.3_Silent_p.T798T	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	798	Spectrin 9.				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			breast(5)|ovary(4)|pancreas(1)	10						ATGAGGAGACGTGGATTCGAG	0.547													A	131346761	G	A	131346761	2	1	160	1	0	0	0	0	0	0	0	1	15116	1132	40	1		1	SPTAN1	9	131346761	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3381429	131346761	9866670	580	87466											
ZER1	10444	broad.mit.edu	37	chr9	131503159	131503159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgcagttcctgcttctctGggaattcctgggaaaaggag	12	8	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131503159G>T	uc004bwa.1	-	12	2178	c.1745C>A	c.(1744-1746)CCA>CAA	p.P582Q		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	582	ARM 3.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						CTGCTTCTCTGGGAATTCCTG	0.463													T	131503159	G	T	131503159	3	4	160	1	0	0	0	0	1	0	0	0	17622	1348	47	5	575	5	ZER1	9	131503159	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	156398	131503159	9710272	581	87467											
LRRC8A	56262	broad.mit.edu	37	chr9	131671140	131671140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtggtcacagatgtggGcgtgcacctgcagaagctgt	15	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131671140G>A	uc004bwl.3	+	3	1951	c.1697G>A	c.(1696-1698)GGC>GAC	p.G566D	LRRC8A_uc010myp.2_Missense_Mutation_p.G566D|LRRC8A_uc010myq.2_Missense_Mutation_p.G566D	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	566	LRR 8.				pre-B cell differentiation	integral to membrane					0						ACAGATGTGGGCGTGCACCTG	0.577													A	131671140	G	A	131671140	3	1	160	1	0	0	0	0	1	0	0	0	9021	1203	42	2	1699	2	LRRC8A	9	131671140	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	167981	131671140	9542291	582	87468											
NUP188	23511	broad.mit.edu	37	chr9	131764178	131764178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggagccacagcagtgGctggagctggcatcacccag	14	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131764178G>A	uc004bws.1	+	36	4082	c.4060G>A	c.(4060-4062)GCT>ACT	p.A1354T	NUP188_uc004bwu.2_Missense_Mutation_p.A697T	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1354					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CACAGCAGTGGCTGGAGCTGG	0.597													A	131764178	G	A	131764178	3	1	160	1	0	0	0	0	1	0	0	0	10758	1203	42	2	4202	2	NUP188	9	131764178	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	93038	131764178	9449253	583	87469											
TOR1A	1861	broad.mit.edu	37	chr9	132576463	132576463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaacaaaataatcaaTgaggttccggtcaattaagc	10	6	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:132576463T>C	uc004byl.2	-	5	864	c.787A>G	c.(787-789)ATT>GTT	p.I263V	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	263					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				AAATAATCAATGAGGTTCCGG	0.478													C	132576463	T	C	132576463	3	2	160	1	0	0	0	0	1	0	0	0	16368	1464	51	3	215	3	TOR1A	9	132576463	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	812285	132576463	8636968	584	87470											
MED27	9442	broad.mit.edu	37	chr9	134955187	134955187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggcactaatggcctgGgaaaaggcctccaggttcac	13	10	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:134955187G>A	uc004cbe.1	-	1	67	c.45C>T	c.(43-45)TCC>TCT	p.S15S	MED27_uc004cbf.1_Silent_p.S15S|MED27_uc011mco.1_Silent_p.S15S|MED27_uc004cbg.3_Silent_p.S15S	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	15					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TAATGGCCTGGGAAAAGGCCT	0.617													A	134955187	G	A	134955187	2	1	160	1	0	0	0	0	0	0	0	1	9445	1219	43	4		4	MED27	9	134955187	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2378724	134955187	6258244	585	87471											
RALGDS	5900	broad.mit.edu	37	chr9	135976954	135976954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacgtccaggctgacgcGgatgatacagcagtcgccca	12	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:135976954G>A	uc004cco.2	-	16	2427	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C	RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'UTR|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.R791C|RALGDS_uc004ccr.2_Missense_Mutation_p.R802C|RALGDS_uc011mcv.1_Missense_Mutation_p.R774C|RALGDS_uc004ccs.2_Missense_Mutation_p.R748C|RALGDS_uc011mcw.1_Missense_Mutation_p.R874C|RALGDS_uc004ccv.1_Missense_Mutation_p.P630L|RALGDS_uc004ccu.1_Missense_Mutation_p.R572C	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	803	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCTGACGCGGATGATACAG	0.642			T	CIITA	PMBL|Hodgkin Lymphona|								A	135976954	G	A	135976954	3	1	160	1	0	0	0	0	1	0	0	0	13016	1116	39	1	349	1	RALGDS	9	135976954	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1021767	135976954	5236477	586	87472											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714882	138714882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctaacaatagccacaAgctcctcttcctcatcctca	3	17	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:138714882A>C	uc004cgr.3	-	11	1625	c.1625T>G	c.(1624-1626)CTT>CGT	p.L542R	CAMSAP1_uc004cgq.3_Missense_Mutation_p.L432R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.L264R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	542						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AATAGCCACAAGCTCCTCTTC	0.592													C	138714882	A	C	138714882	3	2	160	1	0	0	0	0	1	0	0	0	2611	72	3	5	3211	5	CAMSAP1	9	138714882	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2737928	138714882	2498549	587	87473											
LHX3	8022	broad.mit.edu	37	chr9	139091594	139091594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgaggtagaactcgtcGcccgtggccagctgccgctt	12	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139091594G>A	uc004cha.2	-	3	481	c.384C>T	c.(382-384)GGC>GGT	p.G128G	LHX3_uc004cgz.2_Silent_p.G133G	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	128	LIM zinc-binding 2.				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			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		AGAACTCGTCGCCCGTGGCCA	0.667													A	139091594	G	A	139091594	2	1	160	1	0	0	0	0	0	0	0	1	8772	1074	38	1		1	LHX3	9	139091594	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	376712	139091594	2121837	588	87474											
PTGDS	5730	broad.mit.edu	37	chr9	139873455	139873455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccgcagttcctggggcGctggttcagcgcgggcctcg	16	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139873455G>A	uc004cke.2	+	2	200	c.125G>A	c.(124-126)CGC>CAC	p.R42H	PTGDS_uc004ckd.2_RNA|PTGDS_uc004ckf.2_RNA	NM_000954	NP_000945	P41222	PTGDS_HUMAN	prostaglandin D2 synthase, brain	42					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			ovary(1)	1	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)		TTCCTGGGGCGCTGGTTCAGC	0.711													A	139873455	G	A	139873455	3	1	160	1	0	0	0	0	1	0	0	0	12742	1087	38	1	131	1	PTGDS	9	139873455	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	781861	139873455	1339976	589	87475											
ABCA2	20	broad.mit.edu	37	chr9	139905912	139905912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacggtggcggtgatgcCgatgaagagattgatgacaa	16	7	0	5			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139905912C>T	uc011mem.1	-	36	5891	c.5743G>A	c.(5743-5745)GGC>AGC	p.G1915S	ABCA2_uc011mel.1_Missense_Mutation_p.G1916S|ABCA2_uc004ckl.1_Missense_Mutation_p.G1846S|ABCA2_uc004ckm.1_Missense_Mutation_p.G1946S	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1915	Helical; (Potential).				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				0	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)		GCGGTGATGCCGATGAAGAGA	0.632													T	139905912	C	T	139905912	3	4	160	1	0	0	0	0	1	0	0	0	32	652	23	1	1616	1	ABCA2	9	139905912	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	32457	139905912	1307519	590	87476											
MAN1B1	11253	broad.mit.edu	37	chr9	139983450	139983450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagaacttacctgagatttCgtcacaggtactttgagcaa	9	8	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139983450C>T	uc004cld.2	+	3	493	c.458C>T	c.(457-459)TCG>TTG	p.S153L	MAN1B1_uc004clc.2_Missense_Mutation_p.S54L|MAN1B1_uc011meo.1_Missense_Mutation_p.S54L|MAN1B1_uc011mep.1_Missense_Mutation_p.S153L|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	153	Lumenal (Potential).				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			ovary(1)|central_nervous_system(1)	2	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)		CCTGAGATTTCGTCACAGGTA	0.458													T	139983450	C	T	139983450	3	4	160	1	0	0	0	0	1	0	0	0	9212	893	31	1	468	1	MAN1B1	9	139983450	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	77538	139983450	1229981	591	87477											
FAM166A	401565	broad.mit.edu	37	chr9	140139864	140139864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccttcctgcctggtggGcacggagggtgcggggtgtc	17	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:140139864G>A	uc004cmi.1	-	3	472	c.417C>T	c.(415-417)TGC>TGT	p.C139C		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	139										ovary(1)	1						TGCCTGGTGGGCACGGAGGGT	0.652													A	140139864	G	A	140139864	2	1	160	1	0	0	0	0	0	0	0	1	5481	1195	42	2		2	FAM166A	9	140139864	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	156414	140139864	1073567	592	87478											
PNPLA7	375775	broad.mit.edu	37	chr9	140437937	140437937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgagaattcttcacGtcaaactccgtgaggtcggc	13	10	3	2	rs139510260	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:140437937G>A	uc004cnf.2	-	5	715	c.378C>T	c.(376-378)GAC>GAT	p.D126D	PNPLA7_uc010ncj.1_Silent_p.D151D	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AATTCTTCACGTCAAACTCCG	0.602													A	140437937	G	A	140437937	2	1	160	1	0	0	0	0	0	0	0	1	12170	1136	40	1		1	PNPLA7	9	140437937	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	298073	140437937	775494	593	87479											
DIP2C	22982	broad.mit.edu	37	chr10	433709	433709	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatgccatgccagagcccGacgtccttcttgaaatccag	10	13	1	2	rs143826852	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:433709G>A	uc001ifp.2	-	14	1728	c.1638C>T	c.(1636-1638)GTC>GTT	p.V546V	DIP2C_uc009xhj.1_Silent_p.V242V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	546						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		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)		GCCAGAGCCCGACGTCCTTCT	0.552													A	433709	G	A	433709	2	1	160	1	0	0	0	0	0	0	0	1	4529	1045	37	1		1	DIP2C	10	433709	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		433709	135101038	594	87480											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		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						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	160	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	457230	890939	134643808	595	87481											
SFMBT2	57713	broad.mit.edu	37	chr10	7290596	7290596	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgaagaaatggcttcGcaaatctgcgtgatcctgca	10	9	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:7290596G>T	uc009xio.1	-	8	977	c.886C>A	c.(886-888)CGA>AGA	p.R296R	SFMBT2_uc001ijn.1_Silent_p.R296R|SFMBT2_uc010qay.1_Silent_p.R296R	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	296	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						AAATGGCTTCGCAAATCTGCG	0.483													T	7290596	G	T	7290596	2	4	160	1	0	0	0	0	0	0	0	1	14158	1095	38	5		5	SFMBT2	10	7290596	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	6399657	7290596	128244151	596	87482											
UPF2	26019	broad.mit.edu	37	chr10	11990443	11990443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccttcttcttcttcTtcatcctcttcaagattttc	2	16	7	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:11990443T>A	uc001ila.2	-	15	3573	c.3099A>T	c.(3097-3099)GAA>GAT	p.E1033D	UPF2_uc001ilb.2_Missense_Mutation_p.E1033D|UPF2_uc001ilc.2_Missense_Mutation_p.E1033D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1033	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				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			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				cttcttcttcttcatcctctt	0.154													A	11990443	T	A	11990443	3	1	160	1	0	0	0	0	1	0	0	0	17001	1606	56	5	747	5	UPF2	10	11990443	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4699847	11990443	123544304	597	87483											
CUBN	8029	broad.mit.edu	37	chr10	16967360	16967360	+	Frame_Shift_Del	DEL	A	A	-													tgatgaagcatgactgccacAaaaatgaccatttcctccag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:16967359_16967359CA>C	uc001ioo.3	-	42	6579	c.6527_6527TG>G	c.(6526-6528)tgtfs	p.C2176fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2176	CUB 15.				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)	ATGACTGCCACAAAAATGACC	0.383													-	16967360	A	-	16967360	7	5	160	1	0	1	0	1	0	0	0	0	4051	130	5	0	4445	0	CUBN	10	16967360	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	4976917	16967360	118567387	598	87484											
DNAJC1	64215	broad.mit.edu	37	chr10	22208818	22208818	+	Frame_Shift_Del	DEL	T	T	-													ccacactcttgctgccagtcTtttttttcttttctctcttt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:22208817_22208817CT>C	uc001irc.3	-	4	866	c.579_579AG>G	c.(577-579)aagfs	p.K193fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	193					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)				TGCTGCCAGTCTTTTTTTTCT	0.303													-	22208818	T	-	22208818	7	5	160	1	0	1	0	1	0	0	0	0	4628	1609	56	0	1118	0	DNAJC1	10	22208818	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	5241458	22208818	113325929	599	87485											
SPAG6	9576	broad.mit.edu	37	chr10	22676794	22676794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggtttcaaaacattccGtggatctggcagaaatggtt	11	7	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:22676794G>A	uc001iri.2	+	6	863	c.721G>A	c.(721-723)GTG>ATG	p.V241M	SPAG6_uc001irj.2_Missense_Mutation_p.V241M|SPAG6_uc010qct.1_Missense_Mutation_p.V211M|SPAG6_uc009xkh.2_Missense_Mutation_p.V219M	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	241	ARM 6.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						AAAACATTCCGTGGATCTGGC	0.383													A	22676794	G	A	22676794	3	1	160	1	0	0	0	0	1	0	0	0	14982	1145	40	1	743	1	SPAG6	10	22676794	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	467976	22676794	112857953	600	87486											
KIAA1217	56243	broad.mit.edu	37	chr10	24832910	24832910	+	Frame_Shift_Del	DEL	A	A	-													accagtttgaaagccccaagAaaaagtttaaattcaaattc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:24832909_24832909GA>G	uc001iru.4	+	18	5113	c.4710_4710GA>G	c.(4708-4710)aagfs	p.K1570fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Del_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Del_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1570					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						AAAGCCCCAAGAAAAAGTTTA	0.468													-	24832910	A	-	24832910	7	5	160	1	0	1	0	1	0	0	0	0	8216	247	9	0	4785	0	KIAA1217	10	24832910	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	2156116	24832910	110701837	601	87487											
APBB1IP	54518	broad.mit.edu	37	chr10	26800783	26800783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttcgagaaaactcattgTgactgcaatgtagactggtg	10	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:26800783T>C	uc001iss.2	+	7	960	c.639T>C	c.(637-639)TGT>TGC	p.C213C	APBB1IP_uc009xks.1_Silent_p.C213C	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	213	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						AAACTCATTGTGACTGCAATG	0.468													C	26800783	T	C	26800783	2	2	160	1	0	0	0	0	0	0	0	1	760	1702	59	3		3	APBB1IP	10	26800783	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1967873	26800783	108733964	602	87488											
MASTL	84930	broad.mit.edu	37	chr10	27459730	27459730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttattgtaacaccagattgCcaagaaaagacctcaccaaa	5	11	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:27459730C>T	uc001itm.2	+	8	2481	c.1842C>T	c.(1840-1842)TGC>TGT	p.C614C	MASTL_uc001itl.2_Silent_p.C614C|MASTL_uc009xkw.1_Silent_p.C614C|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	614	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CACCAGATTGCCAAGAAAAGA	0.403													T	27459730	C	T	27459730	2	4	160	1	0	0	0	0	0	0	0	1	9328	747	26	2		2	MASTL	10	27459730	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	658947	27459730	108075017	603	87489											
SVIL	6840	broad.mit.edu	37	chr10	29839919	29839919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccccgcttctcgacaGcatcaggctccttcctggac	7	18	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:29839919G>T	uc001iut.1	-	6	1187	c.434C>A	c.(433-435)GCT>GAT	p.A145D	SVIL_uc001iuu.1_Missense_Mutation_p.A145D|SVIL_uc009xld.1_Missense_Mutation_p.A145D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	145	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CTTCTCGACAGCATCAGGCTC	0.557													T	29839919	G	T	29839919	3	4	160	1	0	0	0	0	1	0	0	0	15418	971	34	5	6342	5	SVIL	10	29839919	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2380189	29839919	105694828	604	87490											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	6	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:37486356G>T	uc001iza.1	+	29	2595	c.2496G>T	c.(2494-2496)AAG>AAT	p.K832N		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAATGCAAAAGTCTGTTCCAA	0.308													T	37486356	G	T	37486356	3	4	160	1	0	0	0	0	1	0	0	0	658	1020	36	5	2610	5	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	7646437	37486356	98048391	605	87491											
BMS1	9790	broad.mit.edu	37	chr10	43292147	43292147	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttaagggcatcaaacgAcggaaacttgagttggaaga	13	6	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:43292147A>G	uc001jaj.2	+	10	1813	c.1455A>G	c.(1453-1455)CGA>CGG	p.R485R		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	485					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GCATCAAACGACGGAAACTTG	0.483													G	43292147	A	G	43292147	2	3	160	1	0	0	0	0	0	0	0	1	1472	262	10	3		3	BMS1	10	43292147	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	5805791	43292147	92242600	606	87492											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43662530	43662530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaccaggaagtgccaccacCtgtggagcagcagctggtga	13	12	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:43662530C>A	uc001jan.2	+	6	1573	c.1238C>A	c.(1237-1239)CCT>CAT	p.P413H		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	413	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						GTGCCACCACCTGTGGAGCAG	0.378													A	43662530	C	A	43662530	3	1	160	1	0	0	0	0	1	0	0	0	3939	681	24	5	1256	5	CSGALNACT2	10	43662530	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	370383	43662530	91872217	607	87493											
GDF2	2658	broad.mit.edu	37	chr10	48413645	48413645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgggcacccccatgTcatccttgtagaggacggag	15	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:48413645T>C	uc001jfa.1	-	2	1386	c.1223A>G	c.(1222-1224)GAC>GGC	p.D408G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	408					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			ovary(2)|skin(1)	3						CACCCCCATGTCATCCTTGTA	0.602													C	48413645	T	C	48413645	3	2	160	1	0	0	0	0	1	0	0	0	6314	1667	58	3	70	3	GDF2	10	48413645	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4751115	48413645	87121102	608	87494											
FRMPD2	143162	broad.mit.edu	37	chr10	49448448	49448448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgtgccgctgggctctCgctgcttgtcccacgcagcc	13	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:49448448C>T	uc001jgi.2	-	6	762	c.655G>A	c.(655-657)GAG>AAG	p.E219K	FRMPD2_uc001jgh.2_Missense_Mutation_p.E188K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E197K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	219					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		GCTGGGCTCTCGCTGCTTGTC	0.582													T	49448448	C	T	49448448	3	4	160	1	0	0	0	0	1	0	0	0	6058	893	31	1	3370	1	FRMPD2	10	49448448	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1034803	49448448	86086299	609	87495											
BICC1	80114	broad.mit.edu	37	chr10	60272971	60272971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccaacagcgagcgcaGcaccgactccccagtgcccg	11	19	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:60272971G>A	uc001jki.1	+	1	68	c.68G>A	c.(67-69)AGC>AAC	p.S23N		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	23					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AGCGAGCGCAGCACCGACTCC	0.751													A	60272971	G	A	60272971	3	1	160	1	0	0	0	0	1	0	0	0	1427	971	34	2	70	2	BICC1	10	60272971	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	10824523	60272971	75261776	610	87496											
PPA1	5464	broad.mit.edu	37	chr10	71964629	71964629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggaatagaaatcttacCgtctgttggtactgtgcagg	11	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:71964629C>T	uc001jqv.1	-	10	945	c.838G>A	c.(838-840)GTG>ATG	p.V280M		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	280					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1						GAAATCTTACCGTCTGTTGGT	0.229													T	71964629	C	T	71964629	3	4	160	1	0	0	0	0	1	0	0	0	12286	666	23	1	39	1	PPA1	10	71964629	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	11691658	71964629	63570118	611	87497											
POLR3A	11128	broad.mit.edu	37	chr10	79769344	79769344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacagtactgcttgccCttggttcgcaggttggccct	11	13	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:79769344C>A	uc001jzn.2	-	14	1954	c.1860G>T	c.(1858-1860)AAG>AAT	p.K620N		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	620					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				0	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)			ACTGCTTGCCCTTGGTTCGCA	0.567													A	79769344	C	A	79769344	3	1	160	1	0	0	0	0	1	0	0	0	12228	680	24	5	2384	5	POLR3A	10	79769344	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	7804715	79769344	55765403	612	87498											
POLR3A	11128	broad.mit.edu	37	chr10	79769644	79769644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggattgtaggcggtgggAggcgaactttaattttctca	13	5	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:79769644A>C	uc001jzn.2	-	13	1842	c.1748T>G	c.(1747-1749)CTC>CGC	p.L583R		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	583					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				0	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)			AGGCGGTGGGAGGCGAACTTT	0.478													C	79769644	A	C	79769644	3	2	160	1	0	0	0	0	1	0	0	0	12228	304	11	5	2500	5	POLR3A	10	79769644	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	300	79769644	55765103	613	87499											
ZMIZ1	57178	broad.mit.edu	37	chr10	81067262	81067263	+	Frame_Shift_Ins	INS	-	-	C													ggcccccccagctctcccacINScccccggacatgcccaacaa							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:81067261_81067262A>AC	uc001kaf.2	+	22	3340_3341	c.2768_2769A>AC	c.(2767-2769)cacfs	p.H923fs	ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.H799fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.H76fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	923	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)			CAGCTCTCCCACCCCCCGGACA	0.609													C	81067263	-	C	81067262	7	5	160	1	0	1	1	0	0	0	0	0	17693	506	18	0	2843	0	ZMIZ1	10	81067262	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	1297618	81067262	54467485	614	87500											
NRG3	10718	broad.mit.edu	37	chr10	84498345	84498345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcaggtgcaaagaaggCtaccaaggagtccgttgtga	12	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:84498345C>T	uc001kco.2	+	3	993	c.966C>T	c.(964-966)GGC>GGT	p.G322G	NRG3_uc010qlz.1_Silent_p.G322G|NRG3_uc001kcp.2_Silent_p.G101G|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	322	EGF-like.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCAAAGAAGGCTACCAAGGAG	0.368													T	84498345	C	T	84498345	2	4	160	1	0	0	0	0	0	0	0	1	10649	784	28	2		2	NRG3	10	84498345	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3431083	84498345	51036402	615	87501											
LRIT1	26103	broad.mit.edu	37	chr10	86001138	86001138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagaggggcagaagccccGggcctgggggggccacgcaa	19	11	0	2	rs149315483		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:86001138G>A	uc001kcz.1	-	1	80	c.58C>T	c.(58-60)CGG>TGG	p.R20W		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	20						integral to endoplasmic reticulum membrane					0						CAGAAGCCCCGGGCCTGGGGG	0.677													A	86001138	G	A	86001138	3	1	160	1	0	0	0	0	1	0	0	0	8947	1115	39	1	1829	1	LRIT1	10	86001138	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1502793	86001138	49533609	616	87502											
GRID1	2894	broad.mit.edu	37	chr10	87615817	87615817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccagcatggacctcccaCcattccatggcttagtggat	8	13	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:87615817C>T	uc001kdl.1	-	7	1183	c.1082G>A	c.(1081-1083)GGT>GAT	p.G361D	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	361	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GGACCTCCCACCATTCCATGG	0.562										Multiple Myeloma(13;0.14)			T	87615817	C	T	87615817	3	4	160	1	0	0	0	0	1	0	0	0	6771	507	18	4	1987	4	GRID1	10	87615817	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1614679	87615817	47918930	617	87503											
WAPAL	23063	broad.mit.edu	37	chr10	88259918	88259918	+	Frame_Shift_Del	DEL	A	A	-													ctgacaagcaagatggatgtAaaacagtgtaatctctagtc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:88259917_88259917TA>T	uc001kdn.3	-	3	1221	c.1212_1212TA>A	c.(1210-1212)ttafs	p.L404fs	WAPAL_uc001kdo.3_Frame_Shift_Del_p.L361fs|WAPAL_uc009xsw.3_Frame_Shift_Del_p.L361fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	361	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|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						AAGATGGATGTAAAACAGTGT	0.448													-	88259918	A	-	88259918	7	5	160	1	0	1	0	1	0	0	0	0	17245	372	13	0	2558	0	WAPAL	10	88259918	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	644101	88259918	47274829	618	87504											
ACTA2	59	broad.mit.edu	37	chr10	90708624	90708624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcgtccccagcaaagcCggccttacagagcccagagc	10	16	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:90708624C>T	uc001kfp.2	-	2	180	c.64G>A	c.(64-66)GGC>AGC	p.G22S	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.G22S|ACTA2_uc010qmz.1_Missense_Mutation_p.G22S	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	22					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CCAGCAAAGCCGGCCTTACAG	0.512													T	90708624	C	T	90708624	3	4	160	1	0	0	0	0	1	0	0	0	192	652	23	1	1101	1	ACTA2	10	90708624	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2448706	90708624	44826123	619	87505											
TNKS2	80351	broad.mit.edu	37	chr10	93590876	93590876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagattcttgactcctctgCacgtggcatctgagaaagct	9	10	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:93590876C>T	uc001khp.2	+	11	1510	c.1213C>T	c.(1213-1215)CAC>TAC	p.H405Y		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	405	ANK 8.				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			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				GACTCCTCTGCACGTGGCATC	0.333													T	93590876	C	T	93590876	3	4	160	1	0	0	0	0	1	0	0	0	16318	710	25	2	1255	2	TNKS2	10	93590876	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2882252	93590876	41943871	620	87506											
PLCE1	51196	broad.mit.edu	37	chr10	95791856	95791856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcaattgtgagaactctGccttctggccacattgggct	11	10	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:95791856G>A	uc001kjk.2	+	2	1687	c.1053G>A	c.(1051-1053)CTG>CTA	p.L351L	PLCE1_uc010qnx.1_Silent_p.L351L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	351					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			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGAGAACTCTGCCTTCTGGCC	0.443													A	95791856	G	A	95791856	2	1	160	1	0	0	0	0	0	0	0	1	12034	1306	46	2		2	PLCE1	10	95791856	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2200980	95791856	39742891	621	87507											
NOC3L	64318	broad.mit.edu	37	chr10	96094000	96094000	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtagcaacttcactggaGtatcttttgattagctgatt	8	7	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:96094000G>T	uc001kjq.1	-	21	2425	c.2337C>A	c.(2335-2337)TAC>TAA	p.Y779*		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	779						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				CTTCACTGGAGTATCTTTTGA	0.318													T	96094000	G	T	96094000	4	4	160	1	0	0	0	0	0	1	0	0	10514	1024	36	5	69	5	NOC3L	10	96094000	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	302144	96094000	39440747	622	87508											
PI4K2A	55361	broad.mit.edu	37	chr10	99344577	99344577	+	Frame_Shift_Del	DEL	C	C	-													gtggacattgcgggtatctaCccccctgtgaccaccccctt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:99344576_99344576AC>A	uc010qoy.1	+	0	475	c.116_116AC>A	c.(115-117)tacfs	p.Y39fs	PI4K2A_uc001knx.2_Frame_Shift_Del_p.Y39fs|PI4K2A_uc001kny.3_Frame_Shift_Del_p.Y39fs|PI4K2A_uc001knz.3_Frame_Shift_Del_p.Y39fs	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	0	Poly-Ala.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GCGGGTATCTACCCCCCTGTG	0.592													-	99344577	C	-	99344577	7	5	160	1	0	1	0	1	0	0	0	0	11871	518	18	0		0	PI4K2A	10	99344577	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	3250577	99344577	36190170	623	87509											
DNMBP	23268	broad.mit.edu	37	chr10	101715833	101715833	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaagagtttttagctgGgaatacattcttttgggagg	12	4	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:101715833G>T	uc001kqj.2	-	4	1490	c.1398C>A	c.(1396-1398)TCC>TCA	p.S466S	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	466					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTTTTAGCTGGGAATACATTC	0.517													T	101715833	G	T	101715833	2	4	160	1	0	0	0	0	0	0	0	1	4674	1219	43	5		5	DNMBP	10	101715833	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2371256	101715833	33818914	624	87510											
DNMBP	23268	broad.mit.edu	37	chr10	101716831	101716831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacagggcgctctgggagtGccactgccggctctgtgagg	16	11	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:101716831G>T	uc001kqj.2	-	4	492	c.400C>A	c.(400-402)CAC>AAC	p.H134N	NCRNA00093_uc001kqk.1_RNA	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	134					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTCTGGGAGTGCCACTGCCGG	0.617													T	101716831	G	T	101716831	3	4	160	1	0	0	0	0	1	0	0	0	4674	1319	46	5	4389	5	DNMBP	10	101716831	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	998	101716831	33817916	625	87511											
LBX1	10660	broad.mit.edu	37	chr10	102987321	102987321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggccttcatctcctcCaggtcccgcttgagcttagc	9	16	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:102987321C>A	uc001ksx.2	-	2	697	c.552G>T	c.(550-552)CTG>CTT	p.L184L	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	184	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TCATCTCCTCCAGGTCCCGCT	0.647													A	102987321	C	A	102987321	2	1	160	1	0	0	0	0	0	0	0	1	8653	581	21	5		5	LBX1	10	102987321	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1270490	102987321	32547426	626	87512											
SORCS3	22986	broad.mit.edu	37	chr10	106865237	106865237	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctccattgacatcagTtccctggttgtccaggatga	10	13	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:106865237T>C	uc001kyi.1	+	7	1403	c.1176T>C	c.(1174-1176)AGT>AGC	p.S392S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	392	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		TTGACATCAGTTCCCTGGTTG	0.502													C	106865237	T	C	106865237	2	2	160	1	0	0	0	0	0	0	0	1	14932	1722	60	3		3	SORCS3	10	106865237	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	3877916	106865237	28669510	627	87513											
ABLIM1	3983	broad.mit.edu	37	chr10	116247739	116247739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcttttcctcggtcttcGtagattgcttacagtcggga	11	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:116247739G>A	uc010qsg.1	-	8	1118	c.1019C>T	c.(1018-1020)ACG>ATG	p.T340M	ABLIM1_uc010qsh.1_Missense_Mutation_p.T280M|ABLIM1_uc010qsi.1_Missense_Mutation_p.T280M|ABLIM1_uc010qsk.1_Missense_Mutation_p.T264M|ABLIM1_uc009xyp.2_Missense_Mutation_p.T274M|ABLIM1_uc010qsf.1_Missense_Mutation_p.T24M|ABLIM1_uc009xyn.2_Missense_Mutation_p.T17M|ABLIM1_uc010qsj.1_Missense_Mutation_p.T17M|ABLIM1_uc009xyo.2_Missense_Mutation_p.T188M	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	340	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTCGGTCTTCGTAGATTGCTT	0.483													A	116247739	G	A	116247739	3	1	160	1	0	0	0	0	1	0	0	0	94	1145	40	1	1465	1	ABLIM1	10	116247739	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	9382502	116247739	19287008	628	87514											
FGFR2	2263	broad.mit.edu	37	chr10	123325059	123325059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccctttatctgcaagtacTccccaataagcactgtccta	5	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:123325059T>G	uc010qtk.1	-	3	916	c.269A>C	c.(268-270)GAG>GCG	p.E90A	FGFR2_uc010qtg.1_Missense_Mutation_p.E90A|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.E90A|FGFR2_uc010qtl.1_Missense_Mutation_p.E90A|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.E90A|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.E109A|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.E109A|FGFR2_uc010qtp.1_Missense_Mutation_p.E109A|FGFR2_uc010qtq.1_Missense_Mutation_p.E109A	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	90	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGCAAGTACTCCCCAATAAG	0.527		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				G	123325059	T	G	123325059	3	3	160	1	0	0	0	0	1	0	0	0	5866	1551	54	5	2516	5	FGFR2	10	123325059	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	7077320	123325059	12209688	629	87515											
MMP21	118856	broad.mit.edu	37	chr10	127462527	127462527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgccgctggtcggccacGgacagttggctgctcagggc	16	13	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:127462527G>A	uc001liu.2	-	2	570	c.570C>T	c.(568-570)TCC>TCT	p.S190S		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	190					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTCGGCCACGGACAGTTGGC	0.741													A	127462527	G	A	127462527	2	1	160	1	0	0	0	0	0	0	0	1	9660	1103	39	1		1	MMP21	10	127462527	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4137468	127462527	8072220	630	87516											
EBF3	253738	broad.mit.edu	37	chr10	131757223	131757223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatctcgtgggtcagcaGcacacggcacatctccgggt	12	13	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:131757223G>A	uc001lki.1	-	5	519	c.460C>T	c.(460-462)CTG>TTG	p.L154L		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	154	C5-type (Potential).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		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)		TGGGTCAGCAGCACACGGCAC	0.562													A	131757223	G	A	131757223	2	1	160	1	0	0	0	0	0	0	0	1	4882	962	34	2		2	EBF3	10	131757223	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4294696	131757223	3777524	631	87517											
PPP2R2D	55844	broad.mit.edu	37	chr10	133753565	133753565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcattctaggggagaaTataatgtttacagcaccttt	8	9	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:133753565T>C	uc001lks.2	+	2	373	c.130T>C	c.(130-132)TAT>CAT	p.Y44H	PPP2R2D_uc001lkr.2_5'UTR|PPP2R2D_uc001lkt.2_5'UTR|PPP2R2D_uc009yay.2_5'UTR	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	77					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TAGGGGAGAATATAATGTTTA	0.338													C	133753565	T	C	133753565	3	2	160	1	0	0	0	0	1	0	0	0	12387	1406	49	3	137	3	PPP2R2D	10	133753565	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1996342	133753565	1781182	632	87518											
INPP5A	3632	broad.mit.edu	37	chr10	134563059	134563059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgcagacggtccgggcCgccgacaccaatgaagtggt	13	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:134563059C>T	uc001llp.2	+	10	1019	c.771C>T	c.(769-771)GCC>GCT	p.A257A	INPP5A_uc001llo.1_Silent_p.A257A|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	257					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			skin(1)	1		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)		CGGTCCGGGCCGCCGACACCA	0.627													T	134563059	C	T	134563059	2	4	160	1	0	0	0	0	0	0	0	1	7754	639	23	1		1	INPP5A	10	134563059	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	809494	134563059	971688	633	87519											
ADAM8	101	broad.mit.edu	37	chr10	135084567	135084567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggcacagctcaccagccGgcttcacctggcccagcaga	11	17	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:135084567G>A	uc010qva.1	-	13	1316	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L	ADAM8_uc010quz.1_Missense_Mutation_p.P461L|ADAM8_uc009ybi.2_Missense_Mutation_p.P461L			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	422					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		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)		CTCACCAGCCGGCTTCACCTG	0.647													A	135084567	G	A	135084567	3	1	160	1	0	0	0	0	1	0	0	0	252	1116	39	1	1050	1	ADAM8	10	135084567	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	521508	135084567	450180	634	87520											
PSMD13	5719	broad.mit.edu	37	chr11	252595	252595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggcccatgacatcctcAcctagggccccctggttccc	8	19	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:252595A>G	uc001lol.2	+	13	1368	c.1126A>G	c.(1126-1128)ACC>GCC	p.T376A	PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Missense_Mutation_p.T378A|PSMD13_uc001lon.2_Missense_Mutation_p.T311A|PSMD13_uc001lom.2_Missense_Mutation_p.T351A|PSMD13_uc001lop.2_Missense_Mutation_p.T159A	NM_002817	NP_002808	Q9UNM6	PSD13_HUMAN	proteasome 26S non-ATPase subunit 13 isoform 1	376					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			ovary(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TGACATCCTCACCTAGGGCCC	0.557													G	252595	A	G	252595	3	3	160	1	0	0	0	0	1	0	0	0	12696	159	6	3	1257	3	PSMD13	11	252595	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08		252595	134753921	635	87521											
MUC6	4588	broad.mit.edu	37	chr11	1018569	1018569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggacgggactccccgccGtaggcggggagtgtgtggtg	20	9	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:1018569G>T	uc001lsw.2	-	31	4283	c.4232C>A	c.(4231-4233)ACG>AAG	p.T1411K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1411	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		ACTCCCCGCCGTAGGCGGGGA	0.582													T	1018569	G	T	1018569	3	4	160	1	0	0	0	0	1	0	0	0	9980	1145	40	5	3099	5	MUC6	11	1018569	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	765974	1018569	133987947	636	87522											
MUC2	4583	broad.mit.edu	37	chr11	1085752	1085752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcccccaggactactgCggccagaactcctcactggg	11	17	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:1085752C>T	uc001lsx.1	+	21	2700	c.2673C>T	c.(2671-2673)TGC>TGT	p.C891C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	891	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	AGGACTACTGCGGCCAGAACT	0.637													T	1085752	C	T	1085752	2	4	160	1	0	0	0	0	0	0	0	1	9975	776	27	1		1	MUC2	11	1085752	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	67183	1085752	133920764	637	87523											
INS-IGF2	723961	broad.mit.edu	37	chr11	2170546	2170546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctctggccaggttgAcgtggaggaggagagggaca	17	9	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:2170546A>G	uc001lvm.2	-	3	276	c.217T>C	c.(217-219)TCA>CCA	p.S73P	IGF2_uc001lvh.2_5'UTR|INS-IGF2_uc001lvi.2_RNA	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	73					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|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;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGCCAGGTTGACGTGGAGGAG	0.582													G	2170546	A	G	2170546	3	3	160	1	0	0	0	0	1	0	0	0	7763	275	10	3	393	3	INS-IGF2	11	2170546	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1084794	2170546	132835970	638	87524											
CARS	833	broad.mit.edu	37	chr11	3022438	3022438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttcttggcttgccctTtgctgagctctttgccctcc	8	15	3	1	rs143403960		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:3022438T>C	uc001lxh.2	-	22	2227	c.2153A>G	c.(2152-2154)AAA>AGA	p.K718R	CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Missense_Mutation_p.K708R|CARS_uc001lxf.2_Missense_Mutation_p.K801R|CARS_uc001lxg.2_Missense_Mutation_p.K721E|CARS_uc010qxo.1_Missense_Mutation_p.K804E|CARS_uc010qxp.1_Missense_Mutation_p.K734E	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	718					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		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)	GGCTTGCCCTTTGCTGAGCTC	0.557			T	ALK	ALCL								C	3022438	T	C	3022438	3	2	160	1	0	0	0	0	1	0	0	0	2657	1850	64	3	97	3	CARS	11	3022438	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	851892	3022438	131984078	639	87525											
TRIM68	55128	broad.mit.edu	37	chr11	4621712	4621712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacccggcgaggagggaCcggcaaggacaggattgggt	17	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:4621712C>A	uc001lzf.1	-	7	1490	c.1252G>T	c.(1252-1254)GTC>TTC	p.V418F	TRIM68_uc001lzg.1_Missense_Mutation_p.V195F|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	418	B30.2/SPRY.				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			ovary(1)	1		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)		CGAGGAGGGACCGGCAAGGAC	0.537													A	4621712	C	A	4621712	3	1	160	1	0	0	0	0	1	0	0	0	16538	507	18	5	209	5	TRIM68	11	4621712	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1599274	4621712	130384804	640	87526											
OR51B4	79339	broad.mit.edu	37	chr11	5322281	5322281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaataggcgaataatgCttctttgaatctgcttggtc	9	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:5322281C>A	uc010qza.1	-	1	896	c.896G>T	c.(895-897)AGC>ATC	p.S299I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		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)		GCGAATAATGCTTCTTTGAAT	0.428													A	5322281	C	A	5322281	3	1	160	1	0	0	0	0	1	0	0	0	11090	797	28	5	39	5	OR51B4	11	5322281	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	700569	5322281	129684235	641	87527											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340498	6340498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccagcgtgggctccagCgcaggctgggcttccggctg	17	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6340498C>T	uc001mcu.1	-	2	715	c.681G>A	c.(679-681)GCG>GCA	p.A227A		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	227											0		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)		TGGGCTCCAGCGCAGGCTGGG	0.706													T	6340498	C	T	6340498	2	4	160	1	0	0	0	0	0	0	0	1	12510	755	27	1		1	PRKCDBP	11	6340498	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1018217	6340498	128666018	642	87528											
SMPD1	6609	broad.mit.edu	37	chr11	6412941	6412941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgggatcatgactacCtggagggcacggaccctgac	13	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6412941C>T	uc001mcw.2	+	2	820	c.646C>T	c.(646-648)CTG>TTG	p.L216L	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Silent_p.L216L|SMPD1_uc009yew.2_Silent_p.L215L	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	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				0		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)	TCATGACTACCTGGAGGGCAC	0.682													T	6412941	C	T	6412941	2	4	160	1	0	0	0	0	0	0	0	1	14804	680	24	4		4	SMPD1	11	6412941	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	72443	6412941	128593575	643	87529											
HPX	3263	broad.mit.edu	37	chr11	6461427	6461427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactgttgtgaccttgacGgaatgcagcatccacagggc	12	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6461427G>A	uc001mdg.2	-	4	365	c.304C>T	c.(304-306)CGT>TGT	p.R102C	HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.R102C	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	102	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGACCTTGACGGAATGCAGCA	0.527													A	6461427	G	A	6461427	3	1	160	1	0	0	0	0	1	0	0	0	7346	1116	39	1	1112	1	HPX	11	6461427	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	48486	6461427	128545089	644	87530											
OR10A5	144124	broad.mit.edu	37	chr11	6867802	6867802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctacagcttgagaaatagcGaggtgaagaatgccctcagc	11	9	2	3	rs146897268		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6867802G>A	uc001met.1	+	1	889	c.889G>A	c.(889-891)GAG>AAG	p.E297K		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E297K(1)		skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGAAATAGCGAGGTGAAGAA	0.418													A	6867802	G	A	6867802	3	1	160	1	0	0	0	0	1	0	0	0	10893	1059	37	1	891	1	OR10A5	11	6867802	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	406375	6867802	128138714	645	87531											
ST5	6764	broad.mit.edu	37	chr11	8732756	8732756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctttcctctgcctctcgcAtctgcttggtgggtcggtcc	11	15	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:8732756A>G	uc001mgt.2	-	10	2381	c.2195T>C	c.(2194-2196)ATG>ACG	p.M732T	ST5_uc009yfr.2_Missense_Mutation_p.M312T|ST5_uc001mgu.2_Missense_Mutation_p.M312T|ST5_uc001mgv.2_Missense_Mutation_p.M732T|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.M245T|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	732	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGCCTCTCGCATCTGCTTGGT	0.597													G	8732756	A	G	8732756	3	3	160	1	0	0	0	0	1	0	0	0	15219	217	8	3	1262	3	ST5	11	8732756	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1864954	8732756	126273760	646	87532											
IPO7	10527	broad.mit.edu	37	chr11	9444593	9444593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtacaaggagaagcaatAtatggctcctcgagttttac	9	8	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:9444593A>G	uc001mho.2	+	9	1089	c.947A>G	c.(946-948)TAT>TGT	p.Y316C		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	316					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GAGAAGCAATATATGGCTCCT	0.323													G	9444593	A	G	9444593	3	3	160	1	0	0	0	0	1	0	0	0	7797	449	16	3	981	3	IPO7	11	9444593	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	711837	9444593	125561923	647	87533											
AMPD3	272	broad.mit.edu	37	chr11	10517233	10517233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggttcatccagcacaaGgtctactctcccaacatgcg	7	14	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:10517233G>A	uc001mio.1	+	9	1718	c.1383G>A	c.(1381-1383)AAG>AAA	p.K461K	AMPD3_uc010rbz.1_Silent_p.K302K|AMPD3_uc001min.1_Silent_p.K470K|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.K468K|AMPD3_uc009yfy.2_Silent_p.K461K	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	461					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TCCAGCACAAGGTCTACTCTC	0.577													A	10517233	G	A	10517233	2	1	160	1	0	0	0	0	0	0	0	1	587	991	35	4		4	AMPD3	11	10517233	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1072640	10517233	124489283	648	87534											
PTPN5	84867	broad.mit.edu	37	chr11	18765665	18765665	+	Frame_Shift_Del	DEL	G	G	-													ctgagggcggcgagggaggaGggggtggcggcatctctctc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:18765664_18765664AG>A	uc001mpd.3	-	3	611	c.180_180CT>T	c.(178-180)cctfs	p.P60fs	PTPN5_uc001mpb.3_Frame_Shift_Del_p.P60fs|PTPN5_uc001mpc.3_Frame_Shift_Del_p.P60fs|PTPN5_uc010rdj.2_Frame_Shift_Del_p.P36fs|PTPN5_uc001mpf.3_Frame_Shift_Del_p.P36fs|PTPN5_uc001mpe.3_Frame_Shift_Del_p.P60fs|PTPN5_uc010rdk.2_Frame_Shift_Del_p.P5fs	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	60						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCGAGGGAGGAGGGGGTGGCG	0.647													-	18765665	G	-	18765665	7	5	160	1	0	1	0	1	0	0	0	0	12791	1000	35	0	1566	0	PTPN5	11	18765665	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	8248432	18765665	116240851	649	87535											
NAV2	89797	broad.mit.edu	37	chr11	19954794	19954794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttccttggagagcggcaGcagctccacccctactaatt	9	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:19954794G>A	uc010rdm.1	+	8	1434	c.1073G>A	c.(1072-1074)AGC>AAC	p.S358N	NAV2_uc001mpp.2_Missense_Mutation_p.S271N|NAV2_uc001mpr.3_Missense_Mutation_p.S335N	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	358						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GAGAGCGGCAGCAGCTCCACC	0.602													A	19954794	G	A	19954794	3	1	160	1	0	0	0	0	1	0	0	0	10184	971	34	2	1109	2	NAV2	11	19954794	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1189129	19954794	115051722	650	87536											
SVIP	258010	broad.mit.edu	37	chr11	22848803	22848803	+	Frame_Shift_Del	DEL	T	T	-													tgtagcaatttgtttttctaTtttttcctttttctttctct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:22848802_22848802AT>A	uc001mqp.4	-	2	258	c.170_170AT>T	c.(169-171)atafs	p.I57fs		NM_148893	NP_683691	Q8NHG7	SVIP_HUMAN	Homo sapiens small VCP/p97-interacting protein (SVIP), mRNA.	57						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TTGTTTTTCTATTTTTTCCTT	0.338													-	22848803	T	-	22848803	7	5	160	1	0	1	0	1	0	0	0	0	15419	1493	52	0	72	0	SVIP	11	22848803	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	2894009	22848803	112157713	651	87537											
ANO3	63982	broad.mit.edu	37	chr11	26620415	26620415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcataggaaacacttcGtccccagtttgaagccaagt	7	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:26620415G>A	uc001mqt.3	+	16	1686	c.1541G>A	c.(1540-1542)CGT>CAT	p.R514H	ANO3_uc010rdr.1_Missense_Mutation_p.R498H|ANO3_uc010rds.1_Missense_Mutation_p.R353H|ANO3_uc010rdt.1_Missense_Mutation_p.R368H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	514	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAAACACTTCGTCCCCAGTTT	0.393													A	26620415	G	A	26620415	3	1	160	1	0	0	0	0	1	0	0	0	698	1145	40	1	1603	1	ANO3	11	26620415	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3771612	26620415	108386101	652	87538											
ANO3	63982	broad.mit.edu	37	chr11	26677939	26677939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtacagagactacagaGgcccgccctggagttccaaa	11	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:26677939G>T	uc001mqt.3	+	26	2819	c.2674G>T	c.(2674-2676)GGC>TGC	p.G892C	ANO3_uc010rdr.1_Missense_Mutation_p.G876C|ANO3_uc010rds.1_Missense_Mutation_p.G731C|ANO3_uc010rdt.1_Missense_Mutation_p.G746C	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	892	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGACTACAGAGGCCCGCCCTG	0.408													T	26677939	G	T	26677939	3	4	160	1	0	0	0	0	1	0	0	0	698	1000	35	5	2776	5	ANO3	11	26677939	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	57524	26677939	108328577	653	87539											
EHF	26298	broad.mit.edu	37	chr11	34680408	34680408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagagaaattctggagcGtgtggatggacgaagactgg	15	5	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:34680408G>A	uc001mvr.1	+	9	944	c.833G>A	c.(832-834)CGT>CAT	p.R278H	EHF_uc009yke.1_Missense_Mutation_p.R255H|EHF_uc009ykf.1_Missense_Mutation_p.R281H	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	278	ETS.				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				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATTCTGGAGCGTGTGGATGGA	0.408													A	34680408	G	A	34680408	3	1	160	1	0	0	0	0	1	0	0	0	4981	1145	40	1	863	1	EHF	11	34680408	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	8002469	34680408	100326108	654	87540											
PAMR1	25891	broad.mit.edu	37	chr11	35457486	35457486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccgcccactccacttcCcagtcctcagacatgtcctc	6	20	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:35457486C>A	uc001mwg.2	-	9	1341	c.1298G>T	c.(1297-1299)GGG>GTG	p.G433V	PAMR1_uc001mwf.2_Missense_Mutation_p.G450V|PAMR1_uc010rew.1_Missense_Mutation_p.G322V|PAMR1_uc010rex.1_Missense_Mutation_p.G393V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	433	Sushi 2.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ACTCCACTTCCCAGTCCTCAG	0.552													A	35457486	C	A	35457486	3	1	160	1	0	0	0	0	1	0	0	0	11413	623	22	5	876	5	PAMR1	11	35457486	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	777078	35457486	99549030	655	87541											
DGKZ	8525	broad.mit.edu	37	chr11	46400607	46400607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagtcgcacgctcctgCaccacgcagtcagcactggc	11	16	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:46400607C>T	uc001ncn.1	+	29	3174	c.3049C>T	c.(3049-3051)CAC>TAC	p.H1017Y	DGKZ_uc001nch.1_Missense_Mutation_p.H845Y|DGKZ_uc010rgq.1_3'UTR|DGKZ_uc001ncj.1_Missense_Mutation_p.H795Y|DGKZ_uc010rgr.1_Missense_Mutation_p.H794Y|DGKZ_uc001nck.1_Missense_Mutation_p.H607Y|DGKZ_uc001ncl.2_Missense_Mutation_p.H829Y|DGKZ_uc001ncm.2_Missense_Mutation_p.H828Y|DGKZ_uc009yky.1_Missense_Mutation_p.H829Y|DGKZ_uc010rgs.1_Missense_Mutation_p.H806Y|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank|MDK_uc001ncp.2_5'Flank|MDK_uc009yla.2_5'Flank|MDK_uc009ylb.2_5'Flank|MDK_uc001ncq.2_5'Flank|MDK_uc001ncr.2_5'Flank|MDK_uc001ncs.2_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	1017	ANK 1.				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|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CACGCTCCTGCACCACGCAGT	0.687													T	46400607	C	T	46400607	3	4	160	1	0	0	0	0	1	0	0	0	4474	710	25	2	3606	2	DGKZ	11	46400607	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	10943121	46400607	88605909	656	87542											
AMBRA1	55626	broad.mit.edu	37	chr11	46529844	46529844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggttctgttggtagcgcaTggagcgctggcgaatactgt	15	8	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:46529844T>C	uc010rgu.1	-	9	2596	c.2236A>G	c.(2236-2238)ATG>GTG	p.M746V	AMBRA1_uc010rgt.1_Missense_Mutation_p.M312V|AMBRA1_uc009ylc.1_Missense_Mutation_p.M717V|AMBRA1_uc001ncu.1_Missense_Mutation_p.M656V|AMBRA1_uc001ncv.2_Missense_Mutation_p.M749V|AMBRA1_uc001ncw.2_Missense_Mutation_p.M627V|AMBRA1_uc001ncx.2_Intron	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	746					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGGTAGCGCATGGAGCGCTGG	0.517													C	46529844	T	C	46529844	3	2	160	1	0	0	0	0	1	0	0	0	565	1464	51	3	1700	3	AMBRA1	11	46529844	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	129237	46529844	88476672	657	87543											
MADD	8567	broad.mit.edu	37	chr11	47307995	47307995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgataggcagcctctatCggaaccacagtaccagcttc	8	14	1	1	rs144471266		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:47307995C>T	uc001ner.1	+	15	2754	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W	MADD_uc001neq.2_Missense_Mutation_p.R855W|MADD_uc001nev.1_Missense_Mutation_p.R812W|MADD_uc001nes.1_Missense_Mutation_p.R812W|MADD_uc001net.1_Missense_Mutation_p.R855W|MADD_uc009yln.1_Missense_Mutation_p.R812W|MADD_uc001neu.1_Missense_Mutation_p.R812W|MADD_uc001nex.2_Missense_Mutation_p.R855W|MADD_uc001nez.2_Missense_Mutation_p.R812W|MADD_uc001new.2_Missense_Mutation_p.R855W	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	855					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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CAGCCTCTATCGGAACCACAG	0.522													T	47307995	C	T	47307995	3	4	160	1	0	0	0	0	1	0	0	0	9152	875	31	1	2617	1	MADD	11	47307995	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	778151	47307995	87698521	658	87544											
OR4C46	119749	broad.mit.edu	37	chr11	51515609	51515609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcttcggaggtgcagagGgcatcctacttactgtgatg	12	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:51515609G>T	uc010ric.1	+	1	328	c.328G>T	c.(328-330)GGC>TGC	p.G110C		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGGTGCAGAGGGCATCCTACT	0.468													T	51515609	G	T	51515609	3	4	160	1	0	0	0	0	1	0	0	0	11051	1232	43	5	330	5	OR4C46	11	51515609	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4207614	51515609	83490907	659	87545											
OR5D13	390142	broad.mit.edu	37	chr11	55541473	55541473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaccactctgtaattgTttctgcctcctactcagacc	6	14	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:55541473T>C	uc010ril.1	+	1	560	c.560T>C	c.(559-561)GTT>GCT	p.V187A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TCTGTAATTGTTTCTGCCTCC	0.378													C	55541473	T	C	55541473	3	2	160	1	0	0	0	0	1	0	0	0	11154	1725	60	3	562	3	OR5D13	11	55541473	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	4025864	55541473	79465043	660	87546											
OR5A1	219982	broad.mit.edu	37	chr11	59211096	59211096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcatggtggttggggcatAtgttggtggcttcctgagct	16	7	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:59211096A>G	uc001nnx.1	+	1	455	c.455A>G	c.(454-456)TAT>TGT	p.Y152C		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GTTGGGGCATATGTTGGTGGC	0.547													G	59211096	A	G	59211096	3	3	160	1	0	0	0	0	1	0	0	0	11139	449	16	3	457	3	OR5A1	11	59211096	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	3669623	59211096	75795420	661	87547											
DAK	26007	broad.mit.edu	37	chr11	61110054	61110054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctgacagatggcaacCgccgatgagattgtgaaact	10	11	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:61110054C>T	uc001nre.2	+	9	956	c.699C>T	c.(697-699)ACC>ACT	p.T233T	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.T163T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	233	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						AGATGGCAACCGCCGATGAGA	0.617													T	61110054	C	T	61110054	2	4	160	1	0	0	0	0	0	0	0	1	4228	639	23	1		1	DAK	11	61110054	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1898958	61110054	73896462	662	87548											
RAB3IL1	5866	broad.mit.edu	37	chr11	61672063	61672063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttcactgtgggcagcGtctgcgaagccaccggctca	11	16	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:61672063G>A	uc001nso.2	-	7	1012	c.854C>T	c.(853-855)ACG>ATG	p.T285M	RAB3IL1_uc001nsp.2_Missense_Mutation_p.T259M	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	285							protein binding			skin(2)|central_nervous_system(1)	3						TGTGGGCAGCGTCTGCGAAGC	0.637													A	61672063	G	A	61672063	3	1	160	1	0	0	0	0	1	0	0	0	12937	1145	40	1	310	1	RAB3IL1	11	61672063	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	562009	61672063	73334453	663	87549											
INCENP	3619	broad.mit.edu	37	chr11	61897874	61897874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccggataacttctccaCgcccacgggctctcgcacgg	10	18	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:61897874C>T	uc001nsw.1	+	4	1077	c.875C>T	c.(874-876)ACG>ATG	p.T292M	INCENP_uc009ynv.2_Missense_Mutation_p.T292M|INCENP_uc009ynw.1_Missense_Mutation_p.T292M|INCENP_uc001nsx.1_Missense_Mutation_p.T292M	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	292					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						AACTTCTCCACGCCCACGGGC	0.647													T	61897874	C	T	61897874	3	4	160	1	0	0	0	0	1	0	0	0	7733	536	19	1	885	1	INCENP	11	61897874	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	225811	61897874	73108642	664	87550											
AHNAK	79026	broad.mit.edu	37	chr11	62286120	62286120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagagagggtagctgggCatggacctcggctcccccac	13	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62286120C>T	uc001ntl.2	-	5	16069	c.15769G>A	c.(15769-15771)GCC>ACC	p.A5257T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5257					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGTAGCTGGGCATGGACCTCG	0.527													T	62286120	C	T	62286120	3	4	160	1	0	0	0	0	1	0	0	0	414	710	25	2	2023	2	AHNAK	11	62286120	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	388246	62286120	72720396	665	87551											
AHNAK	79026	broad.mit.edu	37	chr11	62299988	62299988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggagtgctgaacgtgGgcattttcatcttgggcatt	12	9	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62299988G>T	uc001ntl.2	-	5	2201	c.1901C>A	c.(1900-1902)CCC>CAC	p.P634H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	634					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCTGAACGTGGGCATTTTCAT	0.507													T	62299988	G	T	62299988	3	4	160	1	0	0	0	0	1	0	0	0	414	1232	43	5	15891	5	AHNAK	11	62299988	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13868	62299988	72706528	666	87552											
GANAB	23193	broad.mit.edu	37	chr11	62407174	62407174	+	Frame_Shift_Del	DEL	A	A	-													taatccccaggcagacccctAaaaaagccagtaccaaagac							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62407173_62407173TA>T	uc001nua.3	-	1	102	c.69_69TA>A	c.(67-69)ttafs	p.L23fs	GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	23					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|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						GGCAGACCCCTAAAAAAGCCA	0.478													-	62407174	A	-	62407174	7	5	160	1	0	1	0	1	0	0	0	0	6233	372	13	0	2928	0	GANAB	11	62407174	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	107186	62407174	72599342	667	87553											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62491094	62491094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttttccctttgtcactcCgtaagtactccttgccccag	6	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62491094C>T	uc001nuw.2	-	4	1049	c.856G>A	c.(856-858)GGA>AGA	p.G286R	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	286	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding				0						TTTGTCACTCCGTAAGTACTC	0.438													T	62491094	C	T	62491094	3	4	160	1	0	0	0	0	1	0	0	0	7275	661	23	1	1431	1	HNRNPUL2	11	62491094	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	83920	62491094	72515422	668	87554											
PLA2G16	11145	broad.mit.edu	37	chr11	63357621	63357621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcattcacaaagtgctcgCagttctcactggtcagcttg	9	12	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:63357621C>T	uc001nxh.2	-	3	761	c.338G>A	c.(337-339)TGC>TAC	p.C113Y	PLA2G16_uc001nxi.2_Missense_Mutation_p.C125Y|PLA2G16_uc009you.1_Missense_Mutation_p.C113Y	NM_007069	NP_009000	P53816	PAG16_HUMAN	HRAS-like suppressor 3	113				C->S: No effect on PPP2R1A-binding.	lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			ovary(1)	1						AAAGTGCTCGCAGTTCTCACT	0.602													T	63357621	C	T	63357621	3	4	160	1	0	0	0	0	1	0	0	0	11993	710	25	2	158	2	PLA2G16	11	63357621	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	866527	63357621	71648895	669	87555											
MARK2	2011	broad.mit.edu	37	chr11	63667452	63667452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaccttctgtggcagtcCcccttatgctgccccagaac	9	16	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:63667452C>T	uc001nxw.2	+	8	1217	c.638C>T	c.(637-639)CCC>CTC	p.P213L	MARK2_uc001nxx.2_Missense_Mutation_p.P213L|MARK2_uc001nxy.2_Missense_Mutation_p.P213L|MARK2_uc001nxv.3_Missense_Mutation_p.P213L|MARK2_uc001nxz.3_Missense_Mutation_p.P180L|MARK2_uc009yoy.2_Missense_Mutation_p.P180L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	213	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			stomach(1)|ovary(1)|lung(1)	3						TGTGGCAGTCCCCCTTATGCT	0.493													T	63667452	C	T	63667452	3	4	160	1	0	0	0	0	1	0	0	0	9313	623	22	4	668	4	MARK2	11	63667452	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	309831	63667452	71339064	670	87556											
SCYL1	57410	broad.mit.edu	37	chr11	65294590	65294590	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggaggagattcaggTgagcccccaacccaccctgg	11	15	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65294590T>C	uc001oea.1	+	6	926	c.849_splice	c.e6+2	p.Q283_splice	SCYL1_uc009yqk.2_Splice_Site_p.Q283_splice|SCYL1_uc001oeb.1_Splice_Site_p.Q283_splice|SCYL1_uc001oec.1_Splice_Site_p.Q283_splice|SCYL1_uc001oed.1_Splice_Site_p.Q140_splice	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A						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			skin(1)	1						GAGATTCAGGTGAGCCCCCAA	0.527													C	65294590	T	C	65294590	5	2	160	1	0	0	0	0	0	0	1	0	13947	1710	59	3	873	3	SCYL1	11	65294590	Splice_Site	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1627138	65294590	69711926	671	87557											
LTBP3	4054	broad.mit.edu	37	chr11	65319752	65319752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagcgctgacaccgcgCgccccaggccttgccgacac	13	18	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65319752C>T	uc001oej.2	-	7	1581	c.1312G>A	c.(1312-1314)GCG>ACG	p.A438T	LTBP3_uc010roi.1_Missense_Mutation_p.A321T|LTBP3_uc001oei.2_Missense_Mutation_p.A438T|LTBP3_uc010roj.1_Missense_Mutation_p.A139T|LTBP3_uc010rok.1_Missense_Mutation_p.A349T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	438	TB 2.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TGACACCGCGCGCCCCAGGCC	0.642											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65319752	C	T	65319752	3	4	160	1	0	0	0	0	1	0	0	0	9075	768	27	1	2687	1	LTBP3	11	65319752	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	25162	65319752	69686764	672	87558											
SIPA1	6494	broad.mit.edu	37	chr11	65409996	65409996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggcccccacggggtctGtccccaaggaaacttctgga	13	15	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65409996G>A	uc001ofb.2	+	4	1037	c.870G>A	c.(868-870)CTG>CTA	p.L290L	SIPA1_uc010rom.1_Silent_p.L290L|SIPA1_uc001ofd.2_Silent_p.L290L	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	290					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				0						CACGGGGTCTGTCCCCAAGGA	0.667													A	65409996	G	A	65409996	2	1	160	1	0	0	0	0	0	0	0	1	14328	1364	48	4		4	SIPA1	11	65409996	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	90244	65409996	69596520	673	87559											
SIPA1	6494	broad.mit.edu	37	chr11	65417935	65417935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgctcaggaagctgcaGgaggacctgcagaaggtgag	15	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65417935G>A	uc001ofb.2	+	15	3134	c.2967G>A	c.(2965-2967)CAG>CAA	p.Q989Q	SIPA1_uc010rom.1_Silent_p.Q887Q|SIPA1_uc001ofd.2_Silent_p.Q989Q	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	989	Potential.				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				0						GGAAGCTGCAGGAGGACCTGC	0.632													A	65417935	G	A	65417935	2	1	160	1	0	0	0	0	0	0	0	1	14328	991	35	4		4	SIPA1	11	65417935	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	7939	65417935	69588581	674	87560											
CTSW	1521	broad.mit.edu	37	chr11	65650127	65650127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctgccacggtggcttcGtctgggacgcgttcataact	13	11	2	0	rs150421438		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65650127G>A	uc001ogc.1	+	6	628	c.586G>A	c.(586-588)GTC>ATC	p.V196I	CTSW_uc001ogb.1_Missense_Mutation_p.V196I	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	196					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		CGGTGGCTTCGTCTGGGACGC	0.637													A	65650127	G	A	65650127	3	1	160	1	0	0	0	0	1	0	0	0	4042	1145	40	1	608	1	CTSW	11	65650127	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	232192	65650127	69356389	675	87561											
TSGA10IP	254187	broad.mit.edu	37	chr11	65721060	65721060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctgcaggcctgggagCggcagcggcaggaggagcgg	21	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65721060C>T	uc001ogk.1	+	7	1206	c.1174C>T	c.(1174-1176)CGG>TGG	p.R392W	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	392	Potential.										0						GGCCTGGGAGCGGCAGCGGCA	0.697													T	65721060	C	T	65721060	3	4	160	1	0	0	0	0	1	0	0	0	16615	759	27	1	1192	1	TSGA10IP	11	65721060	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	70933	65721060	69285456	676	87562											
CATSPER1	117144	broad.mit.edu	37	chr11	65792833	65792833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgagaagcagcagggcCgggggcatcgtgaatcaggc	17	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65792833C>T	uc001ogt.2	-	1	1156	c.1018G>A	c.(1018-1020)GGC>AGC	p.G340S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	340	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GCAGCAGGGCCGGGGGCATCG	0.597													T	65792833	C	T	65792833	3	4	160	1	0	0	0	0	1	0	0	0	2687	652	23	1	1372	1	CATSPER1	11	65792833	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	71773	65792833	69213683	677	87563											
NPAS4	266743	broad.mit.edu	37	chr11	66188741	66188741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagctgctgccgctggccGaagcggacaaggtccggctg	17	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:66188741G>A	uc001ohx.1	+	1	267	c.91G>A	c.(91-93)GAA>AAA	p.E31K	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	31	Potential.|Helix-loop-helix motif.				transcription, DNA-dependent		DNA binding|signal transducer activity				0						GCCGCTGGCCGAAGCGGACAA	0.657													A	66188741	G	A	66188741	3	1	160	1	0	0	0	0	1	0	0	0	10565	1059	37	1	93	1	NPAS4	11	66188741	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	395908	66188741	68817775	678	87564											
SPTBN2	6712	broad.mit.edu	37	chr11	66460509	66460509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggatggtctgcgcgtaGtcggccagggcttgctccag	17	10	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:66460509G>T	uc001ojd.2	-	24	4989	c.4917C>A	c.(4915-4917)GAC>GAA	p.D1639E		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1639	Spectrin 13.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCTGCGCGTAGTCGGCCAGGG	0.662													T	66460509	G	T	66460509	3	4	160	1	0	0	0	0	1	0	0	0	15119	1020	36	5	2311	5	SPTBN2	11	66460509	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	271768	66460509	68546007	679	87565											
LRFN4	78999	broad.mit.edu	37	chr11	66625483	66625483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacccgcattggggccCgcgcctttggggacctcgag	13	16	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:66625483C>T	uc001ojr.2	+	1	608	c.268C>T	c.(268-270)CGC>TGC	p.R90C	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.R90C|LRFN4_uc001ojs.2_Missense_Mutation_p.R90C	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	90	Extracellular (Potential).|LRR 2.					integral to membrane					0						CATTGGGGCCCGCGCCTTTGG	0.657													T	66625483	C	T	66625483	3	4	160	1	0	0	0	0	1	0	0	0	8940	652	23	1	270	1	LRFN4	11	66625483	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	164974	66625483	68381033	680	87566											
KDM2A	22992	broad.mit.edu	37	chr11	67021875	67021875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcgctactctctcacagAgctcaatatggcaggtatgc	8	13	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:67021875A>G	uc001ojw.2	+	20	4157	c.3293A>G	c.(3292-3294)GAG>GGG	p.E1098G	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.E792G|KDM2A_uc001ojz.1_Missense_Mutation_p.E556G|KDM2A_uc001oka.2_Missense_Mutation_p.E222G	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1098	LRR 4.				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			ovary(4)|lung(3)|breast(1)|skin(1)	9						TCTCTCACAGAGCTCAATATG	0.537													G	67021875	A	G	67021875	3	3	160	1	0	0	0	0	1	0	0	0	8124	304	11	3	3367	3	KDM2A	11	67021875	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	396392	67021875	67984641	681	87567											
SHANK2	22941	broad.mit.edu	37	chr11	70332482	70332482	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccagccgacttctgctgggAcgtgtccatgatgtcgatca	12	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:70332482A>T	uc001oqc.2	-	21	3994	c.3916T>A	c.(3916-3918)TCC>ACC	p.S1306T	SHANK2_uc010rqn.1_Missense_Mutation_p.S718T|SHANK2_uc001opz.2_Missense_Mutation_p.S711T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	927					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTCTGCTGGGACGTGTCCATG	0.597													T	70332482	A	T	70332482	3	4	160	1	0	0	0	0	1	0	0	0	14265	275	10	5	1641	5	SHANK2	11	70332482	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	3310607	70332482	64674034	682	87568											
ARHGEF17	9828	broad.mit.edu	37	chr11	73074493	73074493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtgtggctgggcactgagGatggctggtagggacagggg	21	7	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:73074493G>A	uc001otu.2	+	15	5260	c.5239G>A	c.(5239-5241)GAT>AAT	p.D1747N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1747					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				0						GGGCACTGAGGATGGCTGGTA	0.647													A	73074493	G	A	73074493	3	1	160	1	0	0	0	0	1	0	0	0	900	1174	41	4	5297	4	ARHGEF17	11	73074493	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2742011	73074493	61932023	683	87569											
P4HA3	283208	broad.mit.edu	37	chr11	74015430	74015430	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggggttgttgaatcctcAtgcaaagaaagtaccttgtc	10	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:74015430A>G	uc001ouz.2	-	2	271	c.228T>C	c.(226-228)CAT>CAC	p.H76H	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.H76H	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	76						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TTGAATCCTCATGCAAAGAAA	0.478													G	74015430	A	G	74015430	2	3	160	1	0	0	0	0	0	0	0	1	11358	214	8	3		3	P4HA3	11	74015430	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	940937	74015430	60991086	684	87570											
CAPN5	726	broad.mit.edu	37	chr11	76825449	76825449	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatgttaaaggtgcacaGccggggcggcctcatcagtg	15	11	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:76825449G>C	uc001oxx.2	+	5	853	c.668G>C	c.(667-669)AGC>ACC	p.S223T	CAPN5_uc009yup.2_Missense_Mutation_p.S263T|CAPN5_uc009yuq.2_Missense_Mutation_p.S259T|CAPN5_uc001oxy.2_Missense_Mutation_p.S263T	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	223	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						AAGGTGCACAGCCGGGGCGGC	0.587											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	76825449	G	C	76825449	3	2	160	1	0	0	0	0	1	0	0	0	2629	971	34	5	682	5	CAPN5	11	76825449	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2810019	76825449	58181067	685	87571											
MYO7A	4647	broad.mit.edu	37	chr11	76873961	76873962	+	Frame_Shift_Ins	INS	-	-	C													agctcaacgccaactacatcINSccccccaagaacaaccatga							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:76873960_76873961T>TC	uc001oyb.2	+	13	1888_1889	c.1616_1617T>TC	c.(1615-1617)atcfs	p.I539fs	MYO7A_uc010rsl.2_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	539	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	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													C	76873962	-	C	76873961	7	5	160	1	0	1	1	0	0	0	0	0	10082	845	30	0	1667	0	MYO7A	11	76873961	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	48512	76873961	58132555	686	87572											
PCF11	51585	broad.mit.edu	37	chr11	82877707	82877707	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtagaaaactggcaaAgttccaagtctgccaaaaga	9	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:82877707A>C	uc001ozx.3	+	5	2113	c.1768A>C	c.(1768-1770)AGT>CGT	p.S590R	PCF11_uc010rsu.1_Missense_Mutation_p.S590R	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	590					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AAACTGGCAAAGTTCCAAGTC	0.373													C	82877707	A	C	82877707	3	2	160	1	0	0	0	0	1	0	0	0	11573	72	3	5	1786	5	PCF11	11	82877707	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	6003746	82877707	52128809	687	87573											
CTSC	1075	broad.mit.edu	37	chr11	88045562	88045562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagcaactcacttttccTgagaattcttaaggtgtgct	8	8	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:88045562T>C	uc001pck.3	-	3	580	c.479A>G	c.(478-480)CAG>CGG	p.Q160R	CTSC_uc001pcl.3_Intron	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	160					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACTTTTCCTGAGAATTCTT	0.368													C	88045562	T	C	88045562	3	2	160	1	0	0	0	0	1	0	0	0	4031	1580	55	3	932	3	CTSC	11	88045562	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	5167855	88045562	46960954	688	87574											
GRM5	2915	broad.mit.edu	37	chr11	88300827	88300827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagatcttcttcttgctgCcagccaggatccttgcaata	7	12	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:88300827C>A	uc001pcq.2	-	7	2224	c.2024G>T	c.(2023-2025)GGC>GTC	p.G675V	GRM5_uc009yvm.2_Missense_Mutation_p.G675V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	675	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTCTTGCTGCCAGCCAGGAT	0.478													A	88300827	C	A	88300827	3	1	160	1	0	0	0	0	1	0	0	0	6800	739	26	5	1626	5	GRM5	11	88300827	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	255265	88300827	46705689	689	87575											
GRM5	2915	broad.mit.edu	37	chr11	88780392	88780392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttaccttctgtgtgcaCggctgatacataggtccagt	9	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:88780392C>T	uc001pcq.2	-	1	849	c.649G>A	c.(649-651)GTG>ATG	p.V217M	GRM5_uc009yvm.2_Missense_Mutation_p.V217M|GRM5_uc009yvn.1_Missense_Mutation_p.V217M	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	217	Extracellular (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGTGTGCACGGCTGATACA	0.413													T	88780392	C	T	88780392	3	4	160	1	0	0	0	0	1	0	0	0	6800	536	19	1	3025	1	GRM5	11	88780392	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	479565	88780392	46226124	690	87576											
SLC36A4	120103	broad.mit.edu	37	chr11	92918940	92918940	+	Frame_Shift_Del	DEL	A	A	-													tcttcatctgatgtcccatcAaaattctgctcatttatcaa							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:92918939_92918939CA>C	uc001pdn.3	-	1	194	c.97_97TG>G	c.(97-99)gatfs	p.D33fs	SLC36A4_uc001pdm.3_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	33					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATGTCCCATCAAAATTCTGC	0.358													-	92918940	A	-	92918940	7	5	160	1	0	1	0	1	0	0	0	0	14596	127	5	0	1458	0	SLC36A4	11	92918940	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	4138548	92918940	42087576	691	87577											
CASP4	837	broad.mit.edu	37	chr11	104825505	104825505	+	Frame_Shift_Del	DEL	A	A	-													ggggatatttggtctatgttAaaaaaggtttgaagaagcat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:104825504_104825504TA>T	uc001pid.1	-	1	305	c.232_232TA>A	c.(232-234)aacfs	p.N78fs	CASP4_uc001pib.1_Frame_Shift_Del_p.N22fs|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Frame_Shift_Del_p.N78fs|CASP4_uc010ruy.1_Frame_Shift_Del_p.N78fs	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	78	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGGTCTATGTTAAAAAAGGTT	0.373													-	104825505	A	-	104825505	7	5	160	1	0	1	0	1	0	0	0	0	2673	359	13	0	930	0	CASP4	11	104825505	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	11906565	104825505	30181011	692	87578											
GUCY1A2	2977	broad.mit.edu	37	chr11	106579331	106579331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttccaaacaggcaataaCgtggcattcgcaccccaaca	6	13	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:106579331C>T	uc001pjg.1	-	7	2288	c.1898G>A	c.(1897-1899)CGT>CAT	p.R633H	GUCY1A2_uc010rvo.1_Missense_Mutation_p.R654H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R664H	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	633	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		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)		CAGGCAATAACGTGGCATTCG	0.468													T	106579331	C	T	106579331	3	4	160	1	0	0	0	0	1	0	0	0	6893	536	19	1	308	1	GUCY1A2	11	106579331	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1753826	106579331	28427185	693	87579											
ATM	472	broad.mit.edu	37	chr11	108114793	108114793	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgttctcagactgacGgattaaattccaaatttttg	8	7	1	2	rs147915571		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:108114793G>T	uc001pkb.1	+	6	995	c.610G>T	c.(610-612)GGA>TGA	p.G204*	ATM_uc009yxr.1_Nonsense_Mutation_p.G204*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	204					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		TCAGACTGACGGATTAAATTC	0.348			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)			T	108114793	G	T	108114793	4	4	160	1	0	0	0	0	0	1	0	0	1109	1117	39	5	628	5	ATM	11	108114793	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1535462	108114793	26891723	694	87580											
ATM	472	broad.mit.edu	37	chr11	108155113	108155113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattttgcctatgagggTaccagagacagtgggatggc	13	8	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:108155113T>C	uc001pkb.1	+	26	4291	c.3906T>C	c.(3904-3906)GGT>GGC	p.G1302G	ATM_uc009yxr.1_Silent_p.G1302G	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1302					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	p.V1292_Q1331del(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		CCTATGAGGGTACCAGAGACA	0.393			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)			C	108155113	T	C	108155113	2	2	160	1	0	0	0	0	0	0	0	1	1109	1625	57	3		3	ATM	11	108155113	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	40320	108155113	26851403	695	87581											
DDX10	1662	broad.mit.edu	37	chr11	108709179	108709179	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgttctcacacagaagaaaGaaccttctaaatccagcatc	5	11	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:108709179G>T	uc001pkm.2	+	14	2037	c.1972G>T	c.(1972-1974)GAA>TAA	p.E658*	DDX10_uc001pkl.1_Nonsense_Mutation_p.E658*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	658				E -> D (in Ref. 1; AAC50823).			ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		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)		ACAGAAGAAAGAACCTTCTAA	0.308			T	NUP98	AML*								T	108709179	G	T	108709179	4	4	160	1	0	0	0	0	0	1	0	0	4342	943	33	5	2026	5	DDX10	11	108709179	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	554066	108709179	26297337	696	87582											
BCO2	83875	broad.mit.edu	37	chr11	112071463	112071463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaccccagtgtaatacGcggtttcatgtggtggaaaa	13	7	1	0	rs139911945	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:112071463G>A	uc001pnf.2	+	7	1110	c.993G>A	c.(991-993)ACG>ACA	p.T331T	BCO2_uc001pne.1_Silent_p.T158T|BCO2_uc001png.2_Silent_p.T258T|BCO2_uc001pnh.2_Silent_p.T297T|BCO2_uc010rwt.1_Silent_p.T226T|BCO2_uc009yyn.2_Silent_p.T297T|BCO2_uc001pni.2_Silent_p.T297T	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	331					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				0						AGTGTAATACGCGGTTTCATG	0.398													A	112071463	G	A	112071463	2	1	160	1	0	0	0	0	0	0	0	1	1385	1074	38	1		1	BCO2	11	112071463	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3362284	112071463	22935053	697	87583											
SIK3	23387	broad.mit.edu	37	chr11	116733011	116733012	+	Frame_Shift_Ins	INS	-	-	C													gggttctttcatcaatctgcINScccccgtacatcttctgcag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:116733010_116733011G>GC	uc001ppy.3	-	15	1854_1855	c.1818_1819C>GC	c.(1816-1821)gggcagfs	p.G606fs	SIK3_uc001ppz.3_Frame_Shift_Ins_p.G505fs|SIK3_uc001pqa.3_Frame_Shift_Ins_p.G606fs|SIK3_uc001ppw.3_Frame_Shift_Ins_p.G23fs|SIK3_uc001ppx.3_Frame_Shift_Ins_p.G81fs|SIK3_uc001pqb.3_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	606	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5													C	116733012	-	C	116733011	7	5	160	1	0	1	1	0	0	0	0	0	14319	726	26	0	2005	0	SIK3	11	116733011	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	4661548	116733011	18273505	698	87584											
DSCAML1	57453	broad.mit.edu	37	chr11	117375668	117375668	+	Frame_Shift_Del	DEL	G	G	-													gcttccacatgaccttgggtGgggggtagccgtccaccgag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:117375667_117375667TG>T	uc001prh.1	-	9	2336	c.2334_2334CA>A	c.(2332-2334)ccafs	p.P778fs		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	718	Ig-like C2-type 8.				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)		TGACCTTGGGTGGGGGGTAGC	0.592													-	117375668	G	-	117375668	7	5	160	1	0	1	0	1	0	0	0	0	4769	1348	47	0	4104	0	DSCAML1	11	117375668	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	642657	117375668	17630848	699	87585											
ATP5L	10632	broad.mit.edu	37	chr11	118272414	118272414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgtaaccttgtggagaagAccccggcgctggtgaacggt	14	11	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:118272414A>G	uc001psx.2	+	1	311	c.34A>G	c.(34-36)ACC>GCC	p.T12A		NM_006476	NP_006467	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	12					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding				0	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;3.07e-05)		TGTGGAGAAGACCCCGGCGCT	0.667													G	118272414	A	G	118272414	3	3	160	1	0	0	0	0	1	0	0	0	1160	275	10	3	36	3	ATP5L	11	118272414	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	896746	118272414	16734102	700	87586											
MLL	4297	broad.mit.edu	37	chr11	118343133	118343133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgctatctcctcgcGgatcattaagacccctcggc	9	14	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:118343133G>A	uc001pta.2	+	3	1282	c.1259G>A	c.(1258-1260)CGG>CAG	p.R420Q	MLL_uc001ptb.2_Missense_Mutation_p.R420Q|MLL_uc001psz.1_Missense_Mutation_p.R453Q|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	420					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATCTCCTCGCGGATCATTAAG	0.448			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118343133	G	A	118343133	3	1	160	1	0	0	0	0	1	0	0	0	9620	1116	39	1	1269	1	MLL	11	118343133	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	70719	118343133	16663383	701	87587											
ABCG4	64137	broad.mit.edu	37	chr11	119025561	119025561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctggcgggcagaggaagCgtctggccatcgccctggag	16	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119025561C>T	uc001pvs.2	+	6	958	c.622C>T	c.(622-624)CGT>TGT	p.R208C	ABCG4_uc009zar.2_Missense_Mutation_p.R208C	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	208	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	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)		GCAGAGGAAGCGTCTGGCCAT	0.622													T	119025561	C	T	119025561	3	4	160	1	0	0	0	0	1	0	0	0	70	768	27	1	640	1	ABCG4	11	119025561	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	682428	119025561	15980955	702	87588											
NLRX1	79671	broad.mit.edu	37	chr11	119052945	119052945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggctgcccagctggacCgcaaccggcagctgcaggag	15	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119052945C>A	uc001pvu.2	+	9	2712	c.2497C>A	c.(2497-2499)CGC>AGC	p.R833S	NLRX1_uc001pvv.2_Missense_Mutation_p.R833S|NLRX1_uc001pvw.2_Missense_Mutation_p.R833S|NLRX1_uc001pvx.2_Missense_Mutation_p.R833S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	833	LRR 5.|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			ovary(1)|skin(1)	2	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)		CCAGCTGGACCGCAACCGGCA	0.677													A	119052945	C	A	119052945	3	1	160	1	0	0	0	0	1	0	0	0	10485	652	23	5	2527	5	NLRX1	11	119052945	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	27384	119052945	15953571	703	87589											
CCDC153	283152	broad.mit.edu	37	chr11	119061043	119061043	+	Frame_Shift_Del	DEL	G	G	-													ctggtggcctcaaagatccaGggggggtgagtccaaactgg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119061042_119061042AG>A	uc010rze.2	-	6	814	c.600_600CT>T	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGA	0.572													-	119061043	G	-	119061043	7	5	160	1	0	1	0	1	0	0	0	0	2787	1000	35	0	37	0	CCDC153	11	119061043	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	8098	119061043	15945473	704	87590											
THY1	7070	broad.mit.edu	37	chr11	119290951	119290951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagtgccaaagagcacGtgcttctttgtctcacgggt	10	13	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119290951G>A	uc001pwq.2	-	2	217	c.183C>T	c.(181-183)CAC>CAT	p.H61H	uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Silent_p.H61H|THY1_uc001pws.2_RNA	NM_006288	NP_006279	P04216	THY1_HUMAN	Thy-1 cell surface antigen preproprotein	61	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				0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CAAAGAGCACGTGCTTCTTTG	0.547													A	119290951	G	A	119290951	2	1	160	1	0	0	0	0	0	0	0	1	15882	1136	40	1		1	THY1	11	119290951	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	229908	119290951	15715565	705	87591											
TBCEL	219899	broad.mit.edu	37	chr11	120930727	120930727	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttgttactgatggtgaaCgagaagattctgagagattt	13	4	1	6			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:120930727C>T	uc009zay.2	+	7	967	c.889C>T	c.(889-891)CGA>TGA	p.R297*	TBCEL_uc001pxo.2_Nonsense_Mutation_p.R297*|TBCEL_uc001pxp.2_Nonsense_Mutation_p.R153*|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	297	LRRCT.					cytoplasm|cytoskeleton				skin(1)	1		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)		TGATGGTGAACGAGAAGATTC	0.333													T	120930727	C	T	120930727	4	4	160	1	0	0	0	0	0	1	0	0	15632	528	19	1	911	1	TBCEL	11	120930727	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1639776	120930727	14075789	706	87592											
SCN3B	55800	broad.mit.edu	37	chr11	123513213	123513213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaagggccgatgcgccTcaaactcaaactcccgggac	9	15	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:123513213T>C	uc001pza.1	-	4	793	c.386A>G	c.(385-387)GAG>GGG	p.E129G	SCN3B_uc001pzb.1_Missense_Mutation_p.E129G	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	129	Ig-like C2-type.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		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)		CCGATGCGCCTCAAACTCAAA	0.597													C	123513213	T	C	123513213	3	2	160	1	0	0	0	0	1	0	0	0	13919	1551	54	3	273	3	SCN3B	11	123513213	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2582486	123513213	11493303	707	87593											
OR8G2	26492	broad.mit.edu	37	chr11	124095415	124095415	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatggtttttctttcctcCgtagaaactgaccaaaggaa	7	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:124095415C>A	uc010saf.1	+	1	18	c.18C>A	c.(16-18)TCC>TCA	p.S6S		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	6						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTCTTTCCTCCGTAGAAACTG	0.473													A	124095415	C	A	124095415	2	1	160	1	0	0	0	0	0	0	0	1	11235	639	23	5		5	OR8G2	11	124095415	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	582202	124095415	10911101	708	87594											
OR8B3	390271	broad.mit.edu	37	chr11	124266650	124266650	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attaatacccacaacaatgaGaacaaccacctcgttgacat	4	12	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:124266650G>A	uc010saj.1	-	1	598	c.598C>T	c.(598-600)CTC>TTC	p.L200F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		ACAACAATGAGAACAACCACC	0.428													A	124266650	G	A	124266650	3	1	160	1	0	0	0	0	1	0	0	0	11228	942	33	4	345	4	OR8B3	11	124266650	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	171235	124266650	10739866	709	87595											
FEZ1	9638	broad.mit.edu	37	chr11	125324074	125324074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcggatgccactctgCagaatgttggagatgccttc	13	10	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:125324074C>T	uc001qbx.2	-	7	1124	c.972G>A	c.(970-972)CTG>CTA	p.L324L	FEZ1_uc001qbw.2_Silent_p.L114L	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	324					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	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)		TGCCACTCTGCAGAATGTTGG	0.557													T	125324074	C	T	125324074	2	4	160	1	0	0	0	0	0	0	0	1	5823	697	25	2		2	FEZ1	11	125324074	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1057424	125324074	9682442	710	87596											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840449	128840449	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagatgcgtttcttcctggGgccacatatgtgttataacg	10	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:128840449G>T	uc009zcp.2	-	22	4617	c.4617C>A	c.(4615-4617)GCC>GCA	p.A1539A	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.A498A|ARHGAP32_uc001qez.2_Silent_p.A1190A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1539	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			lung(3)|ovary(2)	5						TTCTTCCTGGGGCCACATATG	0.527													T	128840449	G	T	128840449	2	4	160	1	0	0	0	0	0	0	0	1	881	1219	43	5		5	ARHGAP32	11	128840449	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3516375	128840449	6166067	711	87597											
ARHGAP32	9743	broad.mit.edu	37	chr11	129062071	129062071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcatcccctaaagtgCtactctcactttcagtctcc	4	16	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:129062071C>T	uc009zcp.2	-	1	23	c.23G>A	c.(22-24)AGC>AAC	p.S8N		NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	8					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			lung(3)|ovary(2)	5						CCCTAAAGTGCTACTCTCACT	0.403													T	129062071	C	T	129062071	3	4	160	1	0	0	0	0	1	0	0	0	881	797	28	2	6328	2	ARHGAP32	11	129062071	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	221622	129062071	5944445	712	87598											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281444	130281444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactcctcctccacaggtccGagaacattctccccagggtc	7	17	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:130281444G>A	uc001qgg.3	-	6	1976	c.1618C>T	c.(1618-1620)CGG>TGG	p.R540W	ADAMTS8_uc001qgf.2_Missense_Mutation_p.R21W	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	540	TSP type-1 1.				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)	1	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)		CCACAGGTCCGAGAACATTCT	0.582													A	130281444	G	A	130281444	3	1	160	1	0	0	0	0	1	0	0	0	272	1057	37	1	1067	1	ADAMTS8	11	130281444	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1219373	130281444	4725072	713	87599											
GLB1L3	112937	broad.mit.edu	37	chr11	134153716	134153716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtattttgaccacctgAttcccagagtgattcctctc	7	11	1	5			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:134153716A>G	uc009zdf.2	+	6	973	c.613A>G	c.(613-615)ATT>GTT	p.I205V	GLB1L3_uc010scs.1_Missense_Mutation_p.I205V|GLB1L3_uc010sct.1_Missense_Mutation_p.I57V	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	205					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGACCACCTGATTCCCAGAGT	0.493													G	134153716	A	G	134153716	3	3	160	1	0	0	0	0	1	0	0	0	6430	333	12	3	635	3	GLB1L3	11	134153716	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	3872272	134153716	852800	714	87600											
IQSEC3	440073	broad.mit.edu	37	chr12	248455	248455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccagccagctgcaagtcGcccacgctctccaccgacac	7	20	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:248455G>A	uc001qhw.1	+	1	1023	c.1017G>A	c.(1015-1017)TCG>TCA	p.S339S	IQSEC3_uc001qhu.1_Silent_p.S339S|IQSEC3_uc001qht.1_Silent_p.S424S|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	642					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	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)		GCTGCAAGTCGCCCACGCTCT	0.682													A	248455	G	A	248455	2	1	160	1	0	0	0	0	0	0	0	1	7819	1074	38	1		1	IQSEC3	12	248455	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		248455	133603440	715	87601											
ANO2	57101	broad.mit.edu	37	chr12	5963246	5963246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcaagaattctgccTctctggccagcacctgccac	7	15	4	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:5963246T>C	uc001qnm.2	-	4	656	c.584A>G	c.(583-585)GAG>GGG	p.E195G		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	199	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GAATTCTGCCTCTCTGGCCAG	0.473													C	5963246	T	C	5963246	3	2	160	1	0	0	0	0	1	0	0	0	697	1551	54	3	2504	3	ANO2	12	5963246	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	5714791	5963246	127888649	716	87602											
NOP2	4839	broad.mit.edu	37	chr12	6669713	6669713	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccttctggaggtgagcaCagcgcaggatgtccttctca	11	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:6669713C>T	uc001qpj.1	-	4	284	c.-265G>A	c.(-267--263)CTGTG>CTATG		NOP2_uc009zeq.1_Missense_Mutation_p.C199Y|NOP2_uc001qph.1_Missense_Mutation_p.C483Y|NOP2_uc001qpi.1_Missense_Mutation_p.C483Y			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.						positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						GAGGTGAGCACAGCGCAGGAT	0.547													T	6669713	C	T	6669713	1	4	160	1	0	0	0	0	0	0	0	0	10538	478	17	4		4	NOP2	12	6669713	Translation_Start_Site	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	706467	6669713	127182182	717	87603											
CD4	920	broad.mit.edu	37	chr12	6925423	6925423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgggttacccaggaccCtaagctccagatgggcaaga	11	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:6925423C>A	uc001qqv.1	+	6	1054	c.809C>A	c.(808-810)CCT>CAT	p.P270H	CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.P91H|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	270	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				ACCCAGGACCCTAAGCTCCAG	0.587													A	6925423	C	A	6925423	3	1	160	1	0	0	0	0	1	0	0	0	3014	681	24	5	827	5	CD4	12	6925423	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	255710	6925423	126926472	718	87604											
SLC2A3	6515	broad.mit.edu	37	chr12	8083159	8083159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaagggctgcactttgtAggatagcaggaaggatggta	16	4	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:8083159A>G	uc001qtr.2	-	5	852	c.590T>C	c.(589-591)CTA>CCA	p.L197P	SLC2A3_uc001qts.2_Missense_Mutation_p.L197P	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	197	Helical; Name=6; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TGCACTTTGTAGGATAGCAGG	0.443													G	8083159	A	G	8083159	3	3	160	1	0	0	0	0	1	0	0	0	14545	420	15	3	924	3	SLC2A3	12	8083159	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1157736	8083159	125768736	719	87605											
CLEC4A	50856	broad.mit.edu	37	chr12	8288248	8288248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgctactttatttctacTgaatcagcatcttggcaaga	6	9	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:8288248T>C	uc001qtz.1	+	4	613	c.366T>C	c.(364-366)ACT>ACC	p.T122T	CLEC4A_uc009zga.1_Silent_p.T83T|CLEC4A_uc001qub.1_Silent_p.T89T|CLEC4A_uc001quc.1_Silent_p.T50T|CLEC4A_uc009zgb.1_Intron|uc010sgi.1_5'Flank	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	122	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		TTATTTCTACTGAATCAGCAT	0.443													C	8288248	T	C	8288248	2	2	160	1	0	0	0	0	0	0	0	1	3512	1567	55	3		3	CLEC4A	12	8288248	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	205089	8288248	125563647	720	87606											
FAM90A1	55138	broad.mit.edu	37	chr12	8375189	8375189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagtctgagggatgtcGgccgcagcccctgtctgtct	13	13	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:8375189G>A	uc001qui.2	-	7	1183	c.624C>T	c.(622-624)GCC>GCT	p.A208A	FAM90A1_uc001quh.2_Silent_p.A208A	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	208							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		GAGGGATGTCGGCCGCAGCCC	0.617													A	8375189	G	A	8375189	2	1	160	1	0	0	0	0	0	0	0	1	5650	1103	39	1		1	FAM90A1	12	8375189	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	86941	8375189	125476706	721	87607											
A2M	2	broad.mit.edu	37	chr12	9251308	9251308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgactcgcaggtgggcGtgtgaggctgggagactttg	19	7	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:9251308G>A	uc001qvk.1	-	15	1859	c.1746C>T	c.(1744-1746)CAC>CAT	p.H582H	A2M_uc009zgk.1_Silent_p.H432H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	582					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCAGGTGGGCGTGTGAGGCTG	0.547													A	9251308	G	A	9251308	2	1	160	1	0	0	0	0	0	0	0	1	4	1136	40	1		1	A2M	12	9251308	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	876119	9251308	124600587	722	87608											
KLRD1	3824	broad.mit.edu	37	chr12	10460612	10460612	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcttcaacaattcaaCgctgttctttctgaaaaagt	6	10	5	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:10460612C>T	uc001qxw.3	+	2	133	c.-64C>T	c.(-66--62)AACGC>AATGC		KLRD1_uc001qxx.3_Translation_Start_Site|KLRD1_uc001qxy.3_Translation_Start_Site|KLRD1_uc009zhh.2_Translation_Start_Site|KLRD1_uc009zhi.2_Translation_Start_Site|KLRD1_uc001qxz.3_Translation_Start_Site	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,						cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						AACAATTCAACGCTGTTCTTT	0.333													T	10460612	C	T	10460612	1	4	160	1	0	0	0	0	0	0	0	0	8419	551	19	1		1	KLRD1	12	10460612	Translation_Start_Site	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1209304	10460612	123391283	723	87609											
PRB2	653247	broad.mit.edu	37	chr12	11546301	11546301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggctttcctggaggAgatcgggcactttgggactt	14	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:11546301A>G	uc010shk.1	-	3	746	c.711T>C	c.(709-711)TCT>TCC	p.S237S		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		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)			TTCCTGGAGGAGATCGGGCAC	0.612													G	11546301	A	G	11546301	2	3	160	1	0	0	0	0	0	0	0	1	12443	291	11	3		3	PRB2	12	11546301	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1085689	11546301	122305594	724	87610											
DUSP16	80824	broad.mit.edu	37	chr12	12630318	12630318	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgaccgaatgcaatcGcttgctctggctgtctgaag	12	10	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:12630318G>A	uc001rao.1	-	7	2079	c.1447C>T	c.(1447-1449)CGA>TGA	p.R483*	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Nonsense_Mutation_p.R335*	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	483					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				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GAATGCAATCGCTTGCTCTGG	0.572													A	12630318	G	A	12630318	4	1	160	1	0	0	0	0	0	1	0	0	4816	1095	38	1	554	1	DUSP16	12	12630318	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1084017	12630318	121221577	725	87611											
GRIN2B	2904	broad.mit.edu	37	chr12	13716856	13716856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggcgacggtaggccagctCgatctcgtcaaactccctgc	11	15	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:13716856C>T	uc001rbt.2	-	13	3495	c.3316G>A	c.(3316-3318)GAG>AAG	p.E1106K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1106	Cytoplasmic (Potential).				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.E1106K(1)		central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGCCAGCTCGATCTCGTCA	0.617													T	13716856	C	T	13716856	3	4	160	1	0	0	0	0	1	0	0	0	6780	893	31	1	1142	1	GRIN2B	12	13716856	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1086538	13716856	120135039	726	87612											
PLBD1	79887	broad.mit.edu	37	chr12	14659149	14659149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgagttcaggtcctcacGgcagcagatggtattacagg	14	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:14659149G>A	uc001rcc.1	-	10	1587	c.1426C>T	c.(1426-1428)CGT>TGT	p.R476C		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	476					lipid catabolic process	extracellular region	hydrolase activity				0						AGGTCCTCACGGCAGCAGATG	0.443													A	14659149	G	A	14659149	3	1	160	1	0	0	0	0	1	0	0	0	12025	1116	39	1	243	1	PLBD1	12	14659149	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	942293	14659149	119192746	727	87613											
GUCY2C	2984	broad.mit.edu	37	chr12	14794043	14794045	+	In_Frame_Del	DEL	AGA	AGA	-													gtcccgacagctcaaagtgtAgaaggtttctttccgcagga							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:14794042_14794044TAGA>T	uc001rcd.3	-	17	2177_2179	c.2040_2042TCTA>A	c.(2038-2043)ttctac>ttAc	p.680_681FY>L		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	680	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						GCTCAAAGTGTAGAAGGTTTCTT	0.512													-	14794045	AGA	-	14794043	7	5	160	1	0	1	0	1	0	0	0	0	6896	420	15	0	1220	0	GUCY2C	12	14794043	In_Frame_Del	DEL	AGA	TCGA-CD-A4MI-01A-21D-A25D-08	134894	14794043	119057852	728	87614											
ABCC9	10060	broad.mit.edu	37	chr12	21968783	21968783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacacagatcatgtatctTgatctccccttcttgtggcc	7	13	4	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:21968783T>C	uc001rfi.1	-	32	3957	c.3937A>G	c.(3937-3939)AAG>GAG	p.K1313E	ABCC9_uc001rfh.2_Missense_Mutation_p.K1313E|ABCC9_uc001rfj.1_Missense_Mutation_p.K1277E	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1313	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATGTATCTTGATCTCCCCT	0.408													C	21968783	T	C	21968783	3	2	160	1	0	0	0	0	1	0	0	0	59	1821	63	3	882	3	ABCC9	12	21968783	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	7174740	21968783	111883112	729	87615											
ABCC9	10060	broad.mit.edu	37	chr12	22068751	22068751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtatgttgcttttgacaGcaaattcacaaatggttgaa	8	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:22068751G>T	uc001rfi.1	-	5	687	c.667C>A	c.(667-669)CTG>ATG	p.L223M	ABCC9_uc001rfh.2_Missense_Mutation_p.L223M|ABCC9_uc001rfj.1_Missense_Mutation_p.L223M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	223	Cytoplasmic (Potential).				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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTTTTGACAGCAAATTCACA	0.393													T	22068751	G	T	22068751	3	4	160	1	0	0	0	0	1	0	0	0	59	962	34	5	4260	5	ABCC9	12	22068751	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	99968	22068751	111783144	730	87616											
ITPR2	3709	broad.mit.edu	37	chr12	26580933	26580933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacaagaaacggccgaatAcccacaggcttggagaagaa	11	9	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:26580933A>G	uc001rhg.2	-	49	7275	c.6858T>C	c.(6856-6858)GGT>GGC	p.G2286G	ITPR2_uc009zjg.1_Silent_p.G437G	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2286	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ACGGCCGAATACCCACAGGCT	0.398													G	26580933	A	G	26580933	2	3	160	1	0	0	0	0	0	0	0	1	7921	378	14	3		3	ITPR2	12	26580933	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	4512182	26580933	107270962	731	87617											
ALG10	84920	broad.mit.edu	37	chr12	34177054	34177054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttggcaacttctattTactatatttgcttttctgca	6	8	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:34177054T>C	uc001rlm.2	+	2	648	c.329T>C	c.(328-330)TTA>TCA	p.L110S		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	110	Helical; (Potential).				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			skin(1)	1	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)				AACTTCTATTTACTATATTTG	0.363													C	34177054	T	C	34177054	3	2	160	1	0	0	0	0	1	0	0	0	511	1764	61	3	335	3	ALG10	12	34177054	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	7596121	34177054	99674841	732	87618											
GXYLT1	283464	broad.mit.edu	37	chr12	42491723	42491723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataattacctggattatgaAaaaacacgatattcaataga	5	5	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:42491723A>G	uc001rms.3	-	6	1202	c.977T>C	c.(976-978)TTT>TCT	p.F326S	GXYLT1_uc001rmt.3_Missense_Mutation_p.F295S	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	326	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						TGGATTATGAAAAAACACGAT	0.299													G	42491723	A	G	42491723	3	3	160	1	0	0	0	0	1	0	0	0	6903	14	1	3	357	3	GXYLT1	12	42491723	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	8314669	42491723	91360172	733	87619											
HDAC7	51564	broad.mit.edu	37	chr12	48189994	48189994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggcaaggccttacctccGagcccaggatgggattgggg	15	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:48189994G>A	uc009zkv.1	-	6	889	c.674C>T	c.(673-675)TCG>TTG	p.S225L	HDAC7_uc001rqe.2_5'Flank|HDAC7_uc010slo.1_Missense_Mutation_p.S264L|HDAC7_uc001rqj.3_Missense_Mutation_p.S264L|HDAC7_uc001rqk.3_Missense_Mutation_p.S247L			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	225	Transcription repression 1 (By similarity).|Transcription repression 2 (By similarity).			Missing (in Ref. 1; AAF63491).	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			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CCTTACCTCCGAGCCCAGGAT	0.662													A	48189994	G	A	48189994	3	1	160	1	0	0	0	0	1	0	0	0	7012	1059	37	1	2260	1	HDAC7	12	48189994	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5698271	48189994	85661901	734	87620											
COL2A1	1280	broad.mit.edu	37	chr12	48391985	48391985	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttctcctttctgtccCtgaaacatgaaacattcaca	5	13	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:48391985C>A	uc001rqu.2	-	4	491	c.310_splice	c.e4-1	p.G104_splice	COL2A1_uc001rqv.2_Splice_Site_p.G35_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor						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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTTCTGTCCCTGAAACATGA	0.478													A	48391985	C	A	48391985	5	1	160	1	0	0	0	0	0	0	1	0	3687	695	24	5	4358	5	COL2A1	12	48391985	Splice_Site	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	201991	48391985	85459910	735	87621											
ADCY6	112	broad.mit.edu	37	chr12	49177093	49177093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaggcagctcatatagCggggcgtgcagaagccacct	14	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49177093C>T	uc001rsh.3	-	1	785	c.125G>A	c.(124-126)CGC>CAC	p.R42H	ADCY6_uc001rsj.3_Missense_Mutation_p.R42H|ADCY6_uc001rsi.3_Missense_Mutation_p.R42H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	42	Cytoplasmic (Potential).				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	ATP binding|metal ion binding				0						GCTCATATAGCGGGGCGTGCA	0.682													T	49177093	C	T	49177093	3	4	160	1	0	0	0	0	1	0	0	0	298	768	27	1	3465	1	ADCY6	12	49177093	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	785108	49177093	84674802	736	87622											
DDX23	9416	broad.mit.edu	37	chr12	49230000	49230000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccacaccaatgatgtcaCgattctgtagcccaatggga	9	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49230000C>T	uc001rsm.2	-	11	1377	c.1286G>A	c.(1285-1287)CGT>CAT	p.R429H		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	429	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						AATGATGTCACGATTCTGTAG	0.507													T	49230000	C	T	49230000	3	4	160	1	0	0	0	0	1	0	0	0	4350	536	19	1	1204	1	DDX23	12	49230000	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	52907	49230000	84621895	737	87623											
MLL2	8085	broad.mit.edu	37	chr12	49440558	49440559	+	Missense_Mutation	DNP	GC	GC	AT													acaacgccagcccttgagcaGcatcaccttggtgatctggg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49440558_49440559GC>AT	uc001rta.3	-	15	4251_4252	c.4251_4252GC>AT	c.(4249-4254)ATGCTG>ATATTG	p.M1417I		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1417	Cys-rich.|PHD-type 3.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCTTGAGCAGCATCACCTTGG	0.46			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			AT	49440559	GC	AT	49440558	3	1	160	1	0	0	0	0	1	0	0	0	9621	962	34	2	12521	2	MLL2	12	49440558	Missense_Mutation	DNP	GC	TCGA-CD-A4MI-01A-21D-A25D-08	210558	49440558	84411337	738	87624											
PRPH	5630	broad.mit.edu	37	chr12	49691041	49691041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctaacgtgcgaggtggaCgggctgcgcggcacggtgag	19	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49691041C>T	uc001rtu.2	+	5	1056	c.981C>T	c.(979-981)GAC>GAT	p.D327D		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	327	Coil 2.|Rod.						structural molecule activity				0						GCGAGGTGGACGGGCTGCGCG	0.652											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	49691041	C	T	49691041	2	4	160	1	0	0	0	0	0	0	0	1	12576	535	19	1		1	PRPH	12	49691041	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	250483	49691041	84160854	739	87625											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-													agtcagagaccaccagctatCccccccatgccacctggcat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	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						CCACCAGCTATCCCCCCCATG	0.607													-	50025258	C	-	50025258	7	5	160	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	334217	50025258	83826637	740	87626											
KRT84	3890	broad.mit.edu	37	chr12	52774338	52774338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgccctgctgctcggcCtcggccactgcagcctccaa	10	20	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:52774338C>T	uc001sah.1	-	7	1281	c.1233G>A	c.(1231-1233)GAG>GAA	p.E411E		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	411	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTCGGCCTCGGCCACTG	0.642											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	52774338	C	T	52774338	2	4	160	1	0	0	0	0	0	0	0	1	8498	680	24	4		4	KRT84	12	52774338	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2749080	52774338	81077557	741	87627											
KRT77	374454	broad.mit.edu	37	chr12	53097189	53097189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgctcattgaactaaaCgcggactgagaactaaattg	9	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:53097189C>T	uc001saw.2	-	1	59	c.30G>A	c.(28-30)GCG>GCA	p.A10A	KRT77_uc009zmi.2_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	10	Head.					keratin filament	structural molecule activity			ovary(1)	1						TTGAACTAAACGCGGACTGAG	0.542													T	53097189	C	T	53097189	2	4	160	1	0	0	0	0	0	0	0	1	8490	523	19	1		1	KRT77	12	53097189	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	322851	53097189	80754706	742	87628											
HOXC8	3224	broad.mit.edu	37	chr12	54403113	54403113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttctccaaatacaaagcCggcgagtccctggaaccggc	10	14	1	0	rs142847294	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:54403113C>T	uc001ser.2	+	1	224	c.45C>T	c.(43-45)GCC>GCT	p.A15A		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	15						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AATACAAAGCCGGCGAGTCCC	0.662													T	54403113	C	T	54403113	2	4	160	1	0	0	0	0	0	0	0	1	7316	639	23	1		1	HOXC8	12	54403113	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1305924	54403113	79448782	743	87629											
SMUG1	23583	broad.mit.edu	37	chr12	54577528	54577528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagcgagtcacgtagttgCgatgtggctcccatgcatac	12	10	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:54577528C>T	uc001sff.1	-	3	326	c.197G>A	c.(196-198)CGC>CAC	p.R66H	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_Missense_Mutation_p.R66H|SMUG1_uc001sfg.1_Missense_Mutation_p.R66H|SMUG1_uc009znf.1_Missense_Mutation_p.R66H|SMUG1_uc001sfb.3_Missense_Mutation_p.R66H|SMUG1_uc001sfc.3_Missense_Mutation_p.R66H|SMUG1_uc001sfd.3_Missense_Mutation_p.R66H	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	66				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						CACGTAGTTGCGATGTGGCTC	0.572								BER_DNA_glycosylases					T	54577528	C	T	54577528	3	4	160	1	0	0	0	0	1	0	0	0	14818	768	27	1	623	1	SMUG1	12	54577528	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	174415	54577528	79274367	744	87630											
ITGA5	3678	broad.mit.edu	37	chr12	54812875	54812875	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcccccgaccctgggTggcggcggcagcagcagcaa	15	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:54812875T>C	uc001sga.2	-	1	176	c.108A>G	c.(106-108)CCA>CCG	p.P36P	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	36					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			ovary(2)	2						CGACCCTGGGTGgcggcggca	0.592													C	54812875	T	C	54812875	2	2	160	1	0	0	0	0	0	0	0	1	7879	1683	59	3		3	ITGA5	12	54812875	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	235347	54812875	79039020	745	87631											
DCD	117159	broad.mit.edu	37	chr12	55039032	55039032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacagctttttttgctcCgtctaggcctttttctaggg	8	13	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:55039032C>T	uc001sgj.2	-	4	276	c.214G>A	c.(214-216)GGA>AGA	p.G72R	DCD_uc009znt.2_Missense_Mutation_p.G72R|DCD_uc009znu.2_RNA	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein	72					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)				TTTTTTGCTCCGTCTAGGCCT	0.483													T	55039032	C	T	55039032	3	4	160	1	0	0	0	0	1	0	0	0	4283	661	23	1	126	1	DCD	12	55039032	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	226157	55039032	78812863	746	87632											
SUOX	6821	broad.mit.edu	37	chr12	56397746	56397746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaaggtcaacagccaGcggccctttaatgcagagcc	11	14	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:56397746G>A	uc001six.2	+	6	899	c.573G>A	c.(571-573)CAG>CAA	p.Q191Q	SUOX_uc001siy.2_Silent_p.Q191Q|SUOX_uc001siz.2_Silent_p.Q191Q|SUOX_uc001sja.2_Silent_p.Q191Q	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	191	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCAACAGCCAGCGGCCCTTTA	0.557													A	56397746	G	A	56397746	2	1	160	1	0	0	0	0	0	0	0	1	15392	962	34	2		2	SUOX	12	56397746	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1358714	56397746	77454149	747	87633											
MIP	4284	broad.mit.edu	37	chr12	56847487	56847487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagcacgaactggagcGtcaggaagatctccactgtg	13	10	2	2	rs121917867		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:56847487G>A	uc001slh.2	-	2	445	c.413C>T	c.(412-414)ACG>ATG	p.T138M		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	138	Helical; (By similarity).		T -> R (in ADC; progressive polymorphic and lamellar cataract; loss of activity).		response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						GAACTGGAGCGTCAGGAAGAT	0.612													A	56847487	G	A	56847487	3	1	160	1	0	0	0	0	1	0	0	0	9591	1145	40	1	390	1	MIP	12	56847487	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	449741	56847487	77004408	748	87634											
LGR5	8549	broad.mit.edu	37	chr12	71978276	71978276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaatcctcactttaaggAggatctggtgagcctgagaa	11	8	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:71978276A>G	uc001swl.2	+	18	2534	c.2486A>G	c.(2485-2487)GAG>GGG	p.E829G	LGR5_uc001swm.2_Missense_Mutation_p.E805G|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	829	Cytoplasmic (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CACTTTAAGGAGGATCTGGTG	0.428													G	71978276	A	G	71978276	3	3	160	1	0	0	0	0	1	0	0	0	8757	304	11	3	2556	3	LGR5	12	71978276	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	15130789	71978276	61873619	749	87635											
LRRIQ1	84125	broad.mit.edu	37	chr12	85554467	85554467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcaccaaagatggtacaGcccagaagagatggttactt	9	8	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:85554467G>A	uc001tac.2	+	24	4908	c.4797G>A	c.(4795-4797)CAG>CAA	p.Q1599Q		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1599										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AGATGGTACAGCCCAGAAGAG	0.299													A	85554467	G	A	85554467	2	1	160	1	0	0	0	0	0	0	0	1	9029	962	34	2		2	LRRIQ1	12	85554467	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13576191	85554467	48297428	750	87636											
C12orf50	160419	broad.mit.edu	37	chr12	88390245	88390245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaatatctggaggagtAtgaaatctgtagtattcccc	9	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:88390245A>G	uc001tam.1	-	6	555	c.387T>C	c.(385-387)CAT>CAC	p.H129H	C12orf50_uc001tan.2_Silent_p.H183H	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	129										skin(2)|ovary(1)	3						CTGGAGGAGTATGAAATCTGT	0.318													G	88390245	A	G	88390245	2	3	160	1	0	0	0	0	0	0	0	1	1695	446	16	3		3	C12orf50	12	88390245	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2835778	88390245	45461650	751	87637											
ATP2B1	490	broad.mit.edu	37	chr12	89992959	89992959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgccgcaactccctttcagCgtgatcaatctcttcaacat	5	15	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:89992959C>A	uc001tbh.2	-	19	3467	c.3286G>T	c.(3286-3288)GCT>TCT	p.A1096S	ATP2B1_uc001tbg.2_Missense_Mutation_p.A1096S|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_Missense_Mutation_p.A730S	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1096	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TCCCTTTCAGCGTGATCAATC	0.458													A	89992959	C	A	89992959	3	1	160	1	0	0	0	0	1	0	0	0	1139	768	27	5	542	5	ATP2B1	12	89992959	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1602714	89992959	43858936	752	87638											
EPYC	1833	broad.mit.edu	37	chr12	91365683	91365683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccttattttgttgtcaCgcaggacaagctctcgaagt	10	10	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:91365683C>T	uc001tbk.2	-	5	689	c.596G>A	c.(595-597)CGT>CAT	p.R199H		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	199	LRR 3.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TTTGTTGTCACGCAGGACAAG	0.383													T	91365683	C	T	91365683	3	4	160	1	0	0	0	0	1	0	0	0	5201	536	19	1	384	1	EPYC	12	91365683	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1372724	91365683	42486212	753	87639											
ELK3	2004	broad.mit.edu	37	chr12	96640801	96640801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatggatcctcacgcGgtggagatcagccgggagag	16	9	2	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:96640801G>A	uc001teo.1	+	3	570	c.291G>A	c.(289-291)GCG>GCA	p.A97A		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	97					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			ovary(1)	1	all_cancers(2;0.00173)					ATCCTCACGCGGTGGAGATCA	0.562													A	96640801	G	A	96640801	2	1	160	1	0	0	0	0	0	0	0	1	5060	1103	39	1		1	ELK3	12	96640801	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	5275118	96640801	37211094	754	87640											
C12orf42	374470	broad.mit.edu	37	chr12	103696165	103696165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgacgggatttccggaCgcgcccaggagtctgctttg	13	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:103696165C>T	uc001tjt.2	-	6	892	c.804G>A	c.(802-804)GCG>GCA	p.A268A	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Silent_p.A268A|C12orf42_uc001tju.2_Silent_p.A173A	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	268										ovary(1)|central_nervous_system(1)	2						GATTTCCGGACGCGCCCAGGA	0.667													T	103696165	C	T	103696165	2	4	160	1	0	0	0	0	0	0	0	1	1688	523	19	1		1	C12orf42	12	103696165	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	7055364	103696165	30155730	755	87641											
APPL2	55198	broad.mit.edu	37	chr12	105600917	105600917	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgttgagggcacagtaGtactgaagggaggagaggtg	19	5	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:105600917G>T	uc001tlf.1	-	8	761	c.543C>A	c.(541-543)TAC>TAA	p.Y181*	APPL2_uc010swt.1_Nonsense_Mutation_p.Y138*|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Nonsense_Mutation_p.Y187*|APPL2_uc009zuq.2_Nonsense_Mutation_p.Y138*	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	181	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						GGGCACAGTAGTACTGAAGGG	0.557													T	105600917	G	T	105600917	4	4	160	1	0	0	0	0	0	1	0	0	818	1024	36	5	1507	5	APPL2	12	105600917	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1904752	105600917	28250978	756	87642											
WSCD2	9671	broad.mit.edu	37	chr12	108641980	108641980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggatggcaacttcaagCgctcagggctccggaagctc	13	11	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:108641980C>T	uc001tms.2	+	9	2302	c.1558C>T	c.(1558-1560)CGC>TGC	p.R520C	WSCD2_uc001tmt.2_Missense_Mutation_p.R520C|WSCD2_uc001tmu.2_Missense_Mutation_p.R288C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	520						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CAACTTCAAGCGCTCAGGGCT	0.602													T	108641980	C	T	108641980	3	4	160	1	0	0	0	0	1	0	0	0	17404	768	27	1	1588	1	WSCD2	12	108641980	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3041063	108641980	25209915	757	87643											
KCTD10	83892	broad.mit.edu	37	chr12	109889606	109889606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcataaatccgggcttCgggaaactccacctgtgttc	8	14	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:109889606C>T	uc001toi.1	-	7	824	c.736G>A	c.(736-738)GAA>AAA	p.E246K	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E220K|KCTD10_uc001toj.1_Missense_Mutation_p.E255K|KCTD10_uc001tok.1_Missense_Mutation_p.E65K	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	246					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						ATCCGGGCTTCGGGAAACTCC	0.592													T	109889606	C	T	109889606	3	4	160	1	0	0	0	0	1	0	0	0	8097	893	31	1	209	1	KCTD10	12	109889606	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1247626	109889606	23962289	758	87644											
MVK	4598	broad.mit.edu	37	chr12	110017685	110017685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcttgcctgacgactgtgCtgtcaccgagcgcctggctg	14	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:110017685C>A	uc001toy.3	+	4	489	c.305C>A	c.(304-306)GCT>GAT	p.A102D	MVK_uc009zvk.2_Missense_Mutation_p.A102D|MVK_uc010sxr.1_Missense_Mutation_p.A102D|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	102					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GACGACTGTGCTGTCACCGAG	0.552													A	110017685	C	A	110017685	3	1	160	1	0	0	0	0	1	0	0	0	9995	797	28	5	315	5	MVK	12	110017685	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	128079	110017685	23834210	759	87645											
NAA25	80018	broad.mit.edu	37	chr12	112481496	112481496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgttgaaggagcaaaCgaagaatatcaatccgggag	12	8	1	2	rs116838734	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:112481496C>T	uc001ttm.2	-	18	2203	c.2183G>A	c.(2182-2184)CGT>CAT	p.R728H	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.R700H|NAA25_uc009zwa.1_Missense_Mutation_p.R728H	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	728						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AAGGAGCAAACGAAGAATATC	0.468													T	112481496	C	T	112481496	3	4	160	1	0	0	0	0	1	0	0	0	10121	536	19	1	763	1	NAA25	12	112481496	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2463811	112481496	21370399	760	87646											
NAA25	80018	broad.mit.edu	37	chr12	112485541	112485543	+	In_Frame_Del	DEL	TCT	TCT	-													aatcttcccatggaatgtcaTcttcttctggcctaaggttc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:112485540_112485542ATCT>A	uc001ttm.3	-	16	1991_1993	c.1933_1935AGAT>T	c.(1933-1935)gat>T	p.D646del	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_In_Frame_Del_p.D618del|NAA25_uc009zwa.2_In_Frame_Del_p.D646del	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	646						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						ATGGAATGTCATCTTCTTCTGGC	0.355													-	112485543	TCT	-	112485541	7	5	160	1	0	1	0	1	0	0	0	0	10121	1435	50	0	1016	0	NAA25	12	112485541	In_Frame_Del	DEL	TCT	TCGA-CD-A4MI-01A-21D-A25D-08	4045	112485541	21366354	761	87647											
C12orf51	283450	broad.mit.edu	37	chr12	112717172	112717172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagcatttttagaggcAgcccacagctagtatttgct	9	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:112717172A>G	uc009zwc.2	-	3	383	c.365T>C	c.(364-366)CTG>CCG	p.L122P		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTTTAGAGGCAGCCCACAGCT	0.443													G	112717172	A	G	112717172	3	3	160	1	0	0	0	0	1	0	0	0	1696	188	7	3	11893	3	C12orf51	12	112717172	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	231631	112717172	21134723	762	87648											
DDX54	79039	broad.mit.edu	37	chr12	113603710	113603710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacatactgctgctgggcGttatcagcaacgcgggccag	13	13	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:113603710G>A	uc001tup.2	-	13	1570	c.1542C>T	c.(1540-1542)AAC>AAT	p.N514N	DDX54_uc001tuq.3_Silent_p.N514N	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	514					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			skin(2)|central_nervous_system(1)	3						GCTGCTGGGCGTTATCAGCAA	0.667													A	113603710	G	A	113603710	2	1	160	1	0	0	0	0	0	0	0	1	4372	1136	40	1		1	DDX54	12	113603710	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	886538	113603710	20248185	763	87649											
LHX5	64211	broad.mit.edu	37	chr12	113906065	113906065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtggtgcgggggccgCgccgcttggtgcccgagttc	19	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:113906065C>A	uc001tvj.1	-	3	1116	c.542G>T	c.(541-543)CGC>CTC	p.R181L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	181	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCGGGGGCCGCGCCGCTTGGT	0.672													A	113906065	C	A	113906065	3	1	160	1	0	0	0	0	1	0	0	0	8774	768	27	5	678	5	LHX5	12	113906065	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	302355	113906065	19945830	764	87650											
TBX5	6910	broad.mit.edu	37	chr12	114841585	114841585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaggcggcctgcggggacGacggggacttgctgggggcc	21	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:114841585G>A	uc001tvo.2	-	2	614	c.119C>T	c.(118-120)TCG>TTG	p.S40L	TBX5_uc001tvp.2_Missense_Mutation_p.S40L|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.S40L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	40				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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGCGGGGACGACGGGGACTT	0.647													A	114841585	G	A	114841585	3	1	160	1	0	0	0	0	1	0	0	0	15658	1059	37	1	1536	1	TBX5	12	114841585	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	935520	114841585	19010310	765	87651											
RNF34	80196	broad.mit.edu	37	chr12	121854119	121854119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctacccaccagcagctaCggaagggcccaacatagttt	8	15	0	0	rs61760895		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:121854119C>T	uc001ual.1	+	2	278	c.164C>T	c.(163-165)ACG>ATG	p.T55M	RNF34_uc010szw.1_Missense_Mutation_p.T56M|RNF34_uc001uak.1_Missense_Mutation_p.T56M|RNF34_uc001uam.1_Missense_Mutation_p.T55M	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	55					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCAGCAGCTACGGAAGGGCCC	0.483													T	121854119	C	T	121854119	3	4	160	1	0	0	0	0	1	0	0	0	13489	536	19	1	183	1	RNF34	12	121854119	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	7012534	121854119	11997776	766	87652											
LRRC43	254050	broad.mit.edu	37	chr12	122677438	122677438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagtcaggagagtcGgagctgtctgtcatctcggg	18	7	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:122677438G>A	uc009zxm.2	+	7	1261	c.1236G>A	c.(1234-1236)TCG>TCA	p.S412S	LRRC43_uc001ubw.3_Silent_p.S227S|LRRC43_uc009zxn.2_Silent_p.S173S	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	412	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CAGGAGAGTCGGAGCTGTCTG	0.562													A	122677438	G	A	122677438	2	1	160	1	0	0	0	0	0	0	0	1	9001	1103	39	1		1	LRRC43	12	122677438	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	823319	122677438	11174457	767	87653											
B3GNT4	79369	broad.mit.edu	37	chr12	122691022	122691022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacaccccgtcacagccGgtgtccacccaaccacacag	6	21	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:122691022G>A	uc001ubx.2	+	3	442	c.224G>A	c.(223-225)CGG>CAG	p.R75Q	B3GNT4_uc001uby.2_Missense_Mutation_p.R50Q	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	75	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	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)		CGTCACAGCCGGTGTCCACCC	0.617													A	122691022	G	A	122691022	3	1	160	1	0	0	0	0	1	0	0	0	1259	1116	39	1	230	1	B3GNT4	12	122691022	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13584	122691022	11160873	768	87654											
GPR109A	338442	broad.mit.edu	37	chr12	123187448	123187448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtggggatggaccaccCggaaatacctgtctaccgcc	13	13	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:123187448C>T	uc001ucx.1	-	1	457	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	128	Cytoplasmic (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	ATGGACCACCCGGAAATACCT	0.567													T	123187448	C	T	123187448	3	4	160	1	0	0	0	0	1	0	0	0	6625	652	23	1	712	1	GPR109A	12	123187448	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	496426	123187448	10664447	769	87655											
DNAH10	196385	broad.mit.edu	37	chr12	124343781	124343781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagagggggcaagtccGtcgtcattaacactctgtgt	11	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:124343781G>A	uc001uft.3	+	37	6386	c.6361G>A	c.(6361-6363)GTC>ATC	p.V2121I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2121	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		GGGCAAGTCCGTCGTCATTAA	0.562													A	124343781	G	A	124343781	3	1	160	1	0	0	0	0	1	0	0	0	4598	1145	40	1	6507	1	DNAH10	12	124343781	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1156333	124343781	9508114	770	87656											
AACS	65985	broad.mit.edu	37	chr12	125591695	125591695	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatgactttcttgccaccGgcaccagtgagcaggccccg	12	14	1	2	rs139116253		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:125591695G>T	uc001uhc.2	+	8	1002	c.796G>T	c.(796-798)GGC>TGC	p.G266C	AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.G266C|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	266					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCTTGCCACCGGCACCAGTGA	0.607													T	125591695	G	T	125591695	3	4	160	1	0	0	0	0	1	0	0	0	9	1116	39	5	826	5	AACS	12	125591695	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1247914	125591695	8260200	771	87657											
TMEM132D	121256	broad.mit.edu	37	chr12	129566363	129566363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccgccttgcagcttggCgatcctgggctcctccacct	10	17	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:129566363C>T	uc009zyl.1	-	7	2192	c.1864G>A	c.(1864-1866)GCC>ACC	p.A622T	TMEM132D_uc001uia.2_Missense_Mutation_p.A160T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	622	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		TGCAGCTTGGCGATCCTGGGC	0.542													T	129566363	C	T	129566363	3	4	160	1	0	0	0	0	1	0	0	0	16044	768	27	1	1447	1	TMEM132D	12	129566363	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3974668	129566363	4285532	772	87658											
SFRS8	6433	broad.mit.edu	37	chr12	132241151	132241151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcgggaagaaggaggcatCgtccagtaagaccgtcccgg	16	10	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:132241151C>T	uc001uja.1	+	11	1822	c.1682C>T	c.(1681-1683)TCG>TTG	p.S561L	SFRS8_uc010tbn.1_Missense_Mutation_p.S561L|SFRS8_uc001ujb.1_Missense_Mutation_p.S354L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	561					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AAGGAGGCATCGTCCAGTAAG	0.607													T	132241151	C	T	132241151	3	4	160	1	0	0	0	0	1	0	0	0	14183	893	31	1	1724	1	SFRS8	12	132241151	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2674788	132241151	1610744	773	87659											
XPO4	64328	broad.mit.edu	37	chr13	21429828	21429828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgcttttgcagtcaaTtgatttatctaatgatcctc	5	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:21429828T>C	uc001unq.3	-	4	430	c.394A>G	c.(394-396)ATT>GTT	p.I132V	XPO4_uc010tcr.1_Missense_Mutation_p.I58V	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	132					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		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)		TTGCAGTCAATTGATTTATCT	0.318													C	21429828	T	C	21429828	3	2	160	1	0	0	0	0	1	0	0	0	17443	1493	52	3	3141	3	XPO4	13	21429828	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08		21429828	93740050	774	87660											
RNF17	56163	broad.mit.edu	37	chr13	25367209	25367209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaaaatgaaattagacAgaatgttcaaaagaaatata	6	4	1	5			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:25367209A>G	uc001upr.2	+	10	1006	c.965A>G	c.(964-966)CAG>CGG	p.Q322R	RNF17_uc010tdd.1_Missense_Mutation_p.Q181R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Q322R|RNF17_uc001ups.2_Missense_Mutation_p.Q261R|RNF17_uc001upq.1_Missense_Mutation_p.Q322R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	322					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q322Q(1)		ovary(1)|skin(1)	2		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)		GAAATTAGACAGAATGTTCAA	0.308													G	25367209	A	G	25367209	3	3	160	1	0	0	0	0	1	0	0	0	13461	188	7	3	1003	3	RNF17	13	25367209	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	3937381	25367209	89802669	775	87661											
NUPL1	9818	broad.mit.edu	37	chr13	25914139	25914139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatctgggtttaacttcaGcaatcctggcatcacggcat	8	11	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:25914139G>T	uc001uqi.2	+	16	1913	c.1667G>T	c.(1666-1668)AGC>ATC	p.S556I	NUPL1_uc001uqj.2_Missense_Mutation_p.S544I	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	556	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					0		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)		TTTAACTTCAGCAATCCTGGC	0.408													T	25914139	G	T	25914139	3	4	160	1	0	0	0	0	1	0	0	0	10774	971	34	5	1729	5	NUPL1	13	25914139	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	546930	25914139	89255739	776	87662											
FLT1	2321	broad.mit.edu	37	chr13	28913392	28913392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccaaaggaacttcatctgGgtccattataattgataggt	8	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:28913392G>T	uc001usb.3	-	17	2686	c.2401C>A	c.(2401-2403)CCA>ACA	p.P801T	FLT1_uc001usa.3_Missense_Mutation_p.P19T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	801	Cytoplasmic (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	ACTTCATCTGGGTCCATTATA	0.408													T	28913392	G	T	28913392	3	4	160	1	0	0	0	0	1	0	0	0	5941	1232	43	5	1671	5	FLT1	13	28913392	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2999253	28913392	86256486	777	87663											
FRY	10129	broad.mit.edu	37	chr13	32747633	32747633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccacacgcaaactgtccGttttaatactcaaggaaatt	7	10	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:32747633G>A	uc001utx.2	+	19	2777	c.2281G>A	c.(2281-2283)GTT>ATT	p.V761I	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		CAAACTGTCCGTTTTAATACT	0.463													A	32747633	G	A	32747633	3	1	160	1	0	0	0	0	1	0	0	0	6063	1145	40	1	2355	1	FRY	13	32747633	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3834241	32747633	82422245	778	87664											
NBEA	26960	broad.mit.edu	37	chr13	35685067	35685067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccttaaaatattactacTgggttattaatcctgctgac	5	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:35685067T>C	uc001uvb.2	+	14	2160	c.1954T>C	c.(1954-1956)TGG>CGG	p.W652R		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	652						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		ATATTACTACTGGGTTATTAA	0.363													C	35685067	T	C	35685067	3	2	160	1	0	0	0	0	1	0	0	0	10187	1580	55	3	2004	3	NBEA	13	35685067	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	2937434	35685067	79484811	779	87665											
DNAJC15	29103	broad.mit.edu	37	chr13	43659911	43659911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttacagcccatctGctggcaaggctaagattaga	8	9	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:43659911G>A	uc001uyy.2	+	5	720	c.319G>A	c.(319-321)GCT>ACT	p.A107T		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	107	J.					integral to membrane	heat shock protein binding				0		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)		CAGCCCATCTGCTGGCAAGGC	0.308													A	43659911	G	A	43659911	3	1	160	1	0	0	0	0	1	0	0	0	4634	1319	46	2	337	2	DNAJC15	13	43659911	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	7974844	43659911	71509967	780	87666											
SERP2	387923	broad.mit.edu	37	chr13	44948177	44948177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccatggtggccaaacagCggatccggatggctaacgag	14	10	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:44948177C>T	uc001uzj.2	+	1	200	c.16C>T	c.(16-18)CGG>TGG	p.R6W	SERP2_uc001uzk.2_RNA	NM_001010897	NP_001010897	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein	6	Cytoplasmic (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane					0		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		GGCCAAACAGCGGATCCGGAT	0.637													T	44948177	C	T	44948177	3	4	160	1	0	0	0	0	1	0	0	0	14085	759	27	1	18	1	SERP2	13	44948177	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1288266	44948177	70221701	781	87667											
SPERT	220082	broad.mit.edu	37	chr13	46287535	46287535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgggtgcagctcagcgaCgagatgttcgtgttccagga	15	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:46287535C>T	uc001van.1	+	3	455	c.375C>T	c.(373-375)GAC>GAT	p.D125D	SPERT_uc001vao.2_Silent_p.D89D	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	125						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		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)		AGCTCAGCGACGAGATGTTCG	0.632													T	46287535	C	T	46287535	2	4	160	1	0	0	0	0	0	0	0	1	15038	535	19	1		1	SPERT	13	46287535	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1339358	46287535	68882343	782	87668											
SIAH3	283514	broad.mit.edu	37	chr13	46425671	46425671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgacacagacaagttgccCggcagcggagaaaacccgtt	12	12	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:46425671C>T	uc001vap.2	-	1	176	c.94G>A	c.(94-96)GGG>AGG	p.G32R		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	32					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						ACAAGTTGCCCGGCAGCGGAG	0.498													T	46425671	C	T	46425671	3	4	160	1	0	0	0	0	1	0	0	0	14301	652	23	1	723	1	SIAH3	13	46425671	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	138136	46425671	68744207	783	87669											
PHF11	51131	broad.mit.edu	37	chr13	50097316	50097316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttctctcctagccaccCgaaacaatgaaatgtaatac	5	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:50097316C>T	uc001vdb.2	+	7	913	c.576C>T	c.(574-576)CCC>CCT	p.P192P	PHF11_uc001vdc.2_Silent_p.P153P|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-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;2.38e-09)		CCTAGCCACCCGAAACAATGA	0.358													T	50097316	C	T	50097316	2	4	160	1	0	0	0	0	0	0	0	1	11822	639	23	1		1	PHF11	13	50097316	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3671645	50097316	65072562	784	87670											
PCDH8	5100	broad.mit.edu	37	chr13	53420216	53420216	+	Frame_Shift_Del	DEL	C	C	-													gggccgctcttcccggagggCcccccctttgcgcacctcct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:53420215_53420215GC>G	uc001vhi.3	-	0	2561	c.2357_2357GC>C	c.(2356-2358)gccfs	p.A786fs	PCDH8_uc001vhj.3_Intron	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	786					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)		TTCCCGGAGGGCCCCCCCTTT	0.751													-	53420216	C	-	53420216	7	5	160	1	0	1	0	1	0	0	0	0	11517	739	26	0	868	0	PCDH8	13	53420216	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	3322900	53420216	61749662	785	87671											
LMO7	4008	broad.mit.edu	37	chr13	76407186	76407186	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtttcatgttttgttttcaGgatcagttcagtgatatgag	10	5	4	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:76407186G>T	uc001vjv.2	+	13	3011	c.2251_splice	c.e13-1	p.D751_splice	LMO7_uc010thv.1_Splice_Site_p.D702_splice|LMO7_uc001vjt.1_Splice_Site_p.D650_splice|LMO7_uc010thw.1_Splice_Site_p.D601_splice|LMO7_uc001vjw.1_Splice_Site_p.D657_splice	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2							cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTGTTTTCAGGATCAGTTCA	0.463													T	76407186	G	T	76407186	5	4	160	1	0	0	0	0	0	0	1	0	8855	1014	35	5	3171	5	LMO7	13	76407186	Splice_Site	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	22986970	76407186	38762692	786	87672											
MYCBP2	23077	broad.mit.edu	37	chr13	77672621	77672621	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaccgtcctctcaaaggttCtgtgaggggcattttcttct	10	10	4	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:77672621C>A	uc001vkf.2	-	57	8645	c.8554G>T	c.(8554-8556)GAA>TAA	p.E2852*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.E2256*|MYCBP2_uc001vkg.1_Nonsense_Mutation_p.E375*|MYCBP2_uc010aew.2_Nonsense_Mutation_p.E238*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCAAAGGTTCTGTGAGGGGC	0.463													A	77672621	C	A	77672621	4	1	160	1	0	0	0	0	0	1	0	0	10018	922	32	5	5480	5	MYCBP2	13	77672621	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1265435	77672621	37497257	787	87673											
OXGR1	27199	broad.mit.edu	37	chr13	97639036	97639036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactaattttctttgcttgCtcaaggttcccgcttacttt	5	10	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:97639036C>T	uc001vmx.1	-	4	1222	c.978G>A	c.(976-978)GAG>GAA	p.E326E	OXGR1_uc010afr.1_Silent_p.E326E	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	326	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TCTTTGCTTGCTCAAGGTTCC	0.388													T	97639036	C	T	97639036	2	4	160	1	0	0	0	0	0	0	0	1	11332	796	28	2		2	OXGR1	13	97639036	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	19966415	97639036	17530842	788	87674											
ZIC2	7546	broad.mit.edu	37	chr13	100634965	100634965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccacaaccagtacggccCcatgaatatgaacatgggta	8	12	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:100634965C>A	uc001von.2	+	1	647	c.647C>A	c.(646-648)CCC>CAC	p.P216H		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	216	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				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTACGGCCCCATGAATATG	0.557													A	100634965	C	A	100634965	3	1	160	1	0	0	0	0	1	0	0	0	17676	623	22	5	649	5	ZIC2	13	100634965	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2995929	100634965	14534913	789	87675											
TPP2	7174	broad.mit.edu	37	chr13	103328732	103328732	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actaaacttgtggaagaaaaAccaacaaaagaaaactggaa	7	6	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:103328732A>C	uc001vpi.3	+	28	3730	c.3627A>C	c.(3625-3627)AAA>AAC	p.K1209N		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1209					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGAAGAAAAACCAACAAAAG	0.294													C	103328732	A	C	103328732	3	2	160	1	0	0	0	0	1	0	0	0	16409	40	2	5	3737	5	TPP2	13	103328732	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2693767	103328732	11841146	790	87676											
ING1	3621	broad.mit.edu	37	chr13	111371952	111371952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacgaccacgacgacggCgcctcgggcacacccaagga	11	17	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:111371952C>T	uc001vri.2	+	2	1374	c.942C>T	c.(940-942)GGC>GGT	p.G314G	ING1_uc001vrf.2_Silent_p.G127G|ING1_uc001vrg.2_Silent_p.G102G|ING1_uc001vrh.2_Silent_p.G171G	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	314					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	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)			ACGACGACGGCGCCTCGGGCA	0.657													T	111371952	C	T	111371952	2	4	160	1	0	0	0	0	0	0	0	1	7735	755	27	1		1	ING1	13	111371952	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	8043220	111371952	3797926	791	87677											
ATP11A	23250	broad.mit.edu	37	chr13	113508592	113508592	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttggttttgcctccctcaGgctgcaggagaaagctgcag	13	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:113508592G>T	uc001vsi.3	+	19	2080	c.1992_splice	c.e19-1	p.R664_splice	ATP11A_uc001vsj.3_Splice_Site_p.R664_splice|ATP11A_uc001vsm.1_Splice_Site_p.R540_splice|ATP11A_uc010ago.2_Splice_Site	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a						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			large_intestine(2)|ovary(2)	4	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)				GCCTCCCTCAGGCTGCAGGAG	0.532													T	113508592	G	T	113508592	5	4	160	1	0	0	0	0	0	0	1	0	1119	1014	35	5	2065	5	ATP11A	13	113508592	Splice_Site	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2136640	113508592	1661286	792	87678											
ATP4B	496	broad.mit.edu	37	chr13	114304805	114304805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgacctgcagcggctggccGagctcgcggggctggtcctg	17	13	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:114304805G>A	uc001vtz.2	-	6	672	c.630C>T	c.(628-630)CTC>CTT	p.L210L		NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	210	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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;0.171)		Rabeprazole(DB01129)	GCGGCTGGCCGAGCTCGCGGG	0.612													A	114304805	G	A	114304805	2	1	160	1	0	0	0	0	0	0	0	1	1146	1045	37	1		1	ATP4B	13	114304805	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	796213	114304805	865073	793	87679											
RPGRIP1	57096	broad.mit.edu	37	chr14	21811292	21811292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaggtgtatgtggagtAcaaattctacgacctaccct	8	9	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:21811292A>G	uc001wag.2	+	21	3437	c.3437A>G	c.(3436-3438)TAC>TGC	p.Y1146C	RPGRIP1_uc001wah.2_Missense_Mutation_p.Y788C|RPGRIP1_uc001wai.2_Missense_Mutation_p.Y472C|RPGRIP1_uc001wak.2_Missense_Mutation_p.Y621C|RPGRIP1_uc010aim.2_Missense_Mutation_p.Y529C|RPGRIP1_uc001wal.2_Missense_Mutation_p.Y505C|RPGRIP1_uc001wam.2_Missense_Mutation_p.Y463C	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	1146	Interaction with RPGR.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	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)		TATGTGGAGTACAAATTCTAC	0.473													G	21811292	A	G	21811292	3	3	160	1	0	0	0	0	1	0	0	0	13549	391	14	3	3519	3	RPGRIP1	14	21811292	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08		21811292	85538248	794	87680											
LRP10	26020	broad.mit.edu	37	chr14	23342624	23342624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaactgcacctggctcatcCtgggcagcaaggaacagact	10	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23342624C>A	uc001whd.2	+	3	737	c.184C>A	c.(184-186)CTG>ATG	p.L62M	LRP10_uc001whe.2_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	62	CUB 1.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTGGCTCATCCTGGGCAGCAA	0.592													A	23342624	C	A	23342624	3	1	160	1	0	0	0	0	1	0	0	0	8952	680	24	5	194	5	LRP10	14	23342624	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1531332	23342624	84006916	795	87681											
PRMT5	10419	broad.mit.edu	37	chr14	23393383	23393383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattcttcaaactgccaGttctctagcctgaaacagag	6	14	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23393383G>A	uc001whm.1	-	12	1300	c.1209C>T	c.(1207-1209)AAC>AAT	p.N403N	PRMT5_uc001whl.1_Silent_p.N386N|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Silent_p.N297N|PRMT5_uc010tng.1_Silent_p.N342N|PRMT5_uc010tnh.1_Silent_p.N359N|PRMT5_uc001whn.1_Silent_p.N232N	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	403					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			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CAAACTGCCAGTTCTCTAGCC	0.473													A	23393383	G	A	23393383	2	1	160	1	0	0	0	0	0	0	0	1	12539	1020	36	4		4	PRMT5	14	23393383	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	50759	23393383	83956157	796	87682											
MYH6	4624	broad.mit.edu	37	chr14	23853688	23853688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcgccgctcgctcttcCtcatgcccttcaccgactct	7	18	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23853688C>A	uc001wjv.2	-	36	5595	c.5528G>T	c.(5527-5529)AGG>ATG	p.R1843M		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1843	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCGCTCTTCCTCATGCCCTT	0.642													A	23853688	C	A	23853688	3	1	160	1	0	0	0	0	1	0	0	0	10038	681	24	5	307	5	MYH6	14	23853688	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	460305	23853688	83495852	797	87683											
MYH6	4624	broad.mit.edu	37	chr14	23862141	23862141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaagcttttcttccagCtgcagtttatcattttccag	5	10	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23862141C>T	uc001wjv.2	-	24	3298	c.3231G>A	c.(3229-3231)CAG>CAA	p.Q1077Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1077	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTTCTTCCAGCTGCAGTTTAT	0.557													T	23862141	C	T	23862141	2	4	160	1	0	0	0	0	0	0	0	1	10038	796	28	2		2	MYH6	14	23862141	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	8453	23862141	83487399	798	87684											
TM9SF1	10548	broad.mit.edu	37	chr14	24664130	24664130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccttgtagtgtgtcacGccttccacccctggcccatg	10	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:24664130G>A	uc001wnb.1	-	2	444	c.96C>T	c.(94-96)GGC>GGT	p.G32G	TM9SF1_uc010toa.1_Intron|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Silent_p.G267G|TM9SF1_uc001wnc.2_Silent_p.G32G|TM9SF1_uc001wnd.2_5'Flank	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	32					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		AGTGTGTCACGCCTTCCACCC	0.537													A	24664130	G	A	24664130	2	1	160	1	0	0	0	0	0	0	0	1	15974	1074	38	1		1	TM9SF1	14	24664130	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	801989	24664130	82685410	799	87685											
ADCY4	196883	broad.mit.edu	37	chr14	24795334	24795334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacttggcatccccggTgtccagttcatcatctagtc	9	12	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:24795334T>C	uc001wov.2	-	12	1612	c.1606A>G	c.(1606-1608)ACC>GCC	p.T536A	ADCY4_uc001wow.2_Missense_Mutation_p.T536A|ADCY4_uc010toh.1_Missense_Mutation_p.T222A|ADCY4_uc001wox.2_Missense_Mutation_p.T536A|ADCY4_uc001woy.2_Missense_Mutation_p.T536A	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	536	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GCATCCCCGGTGTCCAGTTCA	0.597													C	24795334	T	C	24795334	3	2	160	1	0	0	0	0	1	0	0	0	296	1696	59	3	1683	3	ADCY4	14	24795334	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	131204	24795334	82554206	800	87686											
NFATC4	4776	broad.mit.edu	37	chr14	24846034	24846034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatccaggggtggctacaGcagcggcttccgagacagtg	15	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:24846034G>A	uc001wpc.2	+	9	2912	c.2591G>A	c.(2590-2592)AGC>AAC	p.S864N	NFATC4_uc010tok.1_Missense_Mutation_p.S927N|NFATC4_uc010tol.1_Missense_Mutation_p.S927N|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.S877N|NFATC4_uc010ton.1_Missense_Mutation_p.S877N|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.S896N|NFATC4_uc010top.1_Missense_Mutation_p.S896N|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.S794N|NFATC4_uc010tot.1_Missense_Mutation_p.S852N|NFATC4_uc010tou.1_Missense_Mutation_p.S794N|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.S852N|NFATC4_uc010tox.1_Missense_Mutation_p.S794N|NFATC4_uc001wpd.2_Missense_Mutation_p.S399N|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.S399N|NFATC4_uc010tpa.1_Missense_Mutation_p.S152N|NFATC4_uc010tpb.1_Missense_Mutation_p.S152N	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	864					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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGTGGCTACAGCAGCGGCTTC	0.602													A	24846034	G	A	24846034	3	1	160	1	0	0	0	0	1	0	0	0	10365	971	34	2	2818	2	NFATC4	14	24846034	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	50700	24846034	82503506	801	87687											
NID2	22795	broad.mit.edu	37	chr14	52496277	52496277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttacccacacagttccGtccatctccctggtacccag	6	18	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:52496277G>A	uc001wzo.2	-	10	2623	c.2389C>T	c.(2389-2391)CGG>TGG	p.R797W	NID2_uc010tqs.1_Missense_Mutation_p.R797W|NID2_uc010tqt.1_Missense_Mutation_p.R797W|NID2_uc001wzp.2_Missense_Mutation_p.R797W	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	797	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACAGTTCCGTCCATCTCCC	0.522													A	52496277	G	A	52496277	3	1	160	1	0	0	0	0	1	0	0	0	10415	1144	40	1	1790	1	NID2	14	52496277	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	27650243	52496277	54853263	802	87688											
RHOJ	57381	broad.mit.edu	37	chr14	63749933	63749933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtgaagctcgcaaaagCggtacagtcagatttgaatt	12	6	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:63749933C>T	uc001xgb.1	+	4	940	c.497C>T	c.(496-498)GCG>GTG	p.A166V		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	166					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CTCGCAAAAGCGGTACAGTCA	0.423													T	63749933	C	T	63749933	3	4	160	1	0	0	0	0	1	0	0	0	13341	782	27	1	511	1	RHOJ	14	63749933	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	11253656	63749933	43599607	803	87689											
SYNE2	23224	broad.mit.edu	37	chr14	64681100	64681100	+	Frame_Shift_Del	DEL	C	C	-													cctgtcagcgtggactccatCcccctggagtgggaccacac							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:64681099_64681099TC>T	uc001xgl.3	+	105	19474	c.19244_19244TC>T	c.(19243-19245)atcfs	p.I6415fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.I6415fs|SYNE2_uc010apy.3_Frame_Shift_Del_p.I2800fs|SYNE2_uc001xgn.3_Frame_Shift_Del_p.I1377fs|SYNE2_uc021rui.1_Frame_Shift_Del_p.I1402fs|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Frame_Shift_Del_p.I385fs|SYNE2_uc001xgq.3_Frame_Shift_Del_p.I780fs|SYNE2_uc001xgr.3_Frame_Shift_Del_p.I198fs|SYNE2_uc010tsi.2_Frame_Shift_Del_p.I49fs|SYNE2_uc001xgs.3_Frame_Shift_Del_p.I49fs|SYNE2_uc001xgt.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6415					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		GTGGACTCCATCCCCCTGGAG	0.642													-	64681100	C	-	64681100	7	5	160	1	0	1	0	1	0	0	0	0	15443	845	30	0	19663	0	SYNE2	14	64681100	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	931167	64681100	42668440	804	87690											
ZFP36L1	677	broad.mit.edu	37	chr14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-													ggaaggtggtcggggagccaCccccgggcagccccatgcta							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69256454_69256454AC>A	uc021rve.1	-	2	1114	c.1020_1020GT>T	c.(1018-1020)ggtfs	p.G340fs	ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G271fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G271fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	271					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)		TCGGGGAGCCACCCCCGGGCA	0.637											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	69256455	C	-	69256455	7	5	160	1	0	1	0	1	0	0	0	0	17643	507	18	0	208	0	ZFP36L1	14	69256455	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	4575355	69256455	38093085	805	87691											
ACTN1	87	broad.mit.edu	37	chr14	69341670	69341670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgtagggggccatccgcGcgatgcagtactcagcctgg	16	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69341670G>A	uc001xkl.2	-	21	2895	c.2585C>T	c.(2584-2586)GCG>GTG	p.A862V	ACTN1_uc001xkk.2_Missense_Mutation_p.A458V|ACTN1_uc010ttb.1_Missense_Mutation_p.A792V|ACTN1_uc001xkm.2_Missense_Mutation_p.A884V|ACTN1_uc001xkn.2_Missense_Mutation_p.A857V	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	862					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			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCCATCCGCGCGATGCAGTA	0.632													A	69341670	G	A	69341670	3	1	160	1	0	0	0	0	1	0	0	0	204	1087	38	1	97	1	ACTN1	14	69341670	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	85215	69341670	38007870	806	87692											
ACTN1	87	broad.mit.edu	37	chr14	69358971	69358971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacccggttctccagccaCgggattgtgcggcggatcca	14	14	1	0	rs139710798		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69358971C>T	uc001xkl.2	-	10	1195	c.885G>A	c.(883-885)CCG>CCA	p.P295P	ACTN1_uc010ttb.1_Silent_p.P230P|ACTN1_uc001xkm.2_Silent_p.P295P|ACTN1_uc001xkn.2_Silent_p.P295P|ACTN1_uc001xko.1_Silent_p.P230P|ACTN1_uc010ttd.1_Silent_p.P274P	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	295	Spectrin 1.|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			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTCCAGCCACGGGATTGTGC	0.662													T	69358971	C	T	69358971	2	4	160	1	0	0	0	0	0	0	0	1	204	523	19	1		1	ACTN1	14	69358971	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	17301	69358971	37990569	807	87693											
GALNTL1	57452	broad.mit.edu	37	chr14	69806298	69806298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatacaagcaatactactaTgaggcccggccctcggccat	9	13	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69806298T>C	uc010aqu.1	+	11	1242	c.1149T>C	c.(1147-1149)TAT>TAC	p.Y383Y	GALNTL1_uc001xla.1_Silent_p.Y383Y|GALNTL1_uc001xlb.1_Silent_p.Y383Y	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	383	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		AATACTACTATGAGGCCCGGC	0.537													C	69806298	T	C	69806298	2	2	160	1	0	0	0	0	0	0	0	1	6221	1471	51	3		3	GALNTL1	14	69806298	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	447327	69806298	37543242	808	87694											
TTC9	23508	broad.mit.edu	37	chr14	71109099	71109099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaataccaccgggcgttgCtggagctgaaggggctgctg	16	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:71109099C>T	uc001xmi.2	+	1	596	c.253C>T	c.(253-255)CTG>TTG	p.L85L	uc001xmh.1_5'Flank	NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	85	TPR 1.						binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		CCGGGCGTTGCTGGAGCTGAA	0.677													T	71109099	C	T	71109099	2	4	160	1	0	0	0	0	0	0	0	1	16712	796	28	2		2	TTC9	14	71109099	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1302801	71109099	36240441	809	87695											
SIPA1L1	26037	broad.mit.edu	37	chr14	72128161	72128161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtcagggtgcacaatccGtgctctgacagtgtctgtta	11	10	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:72128161G>A	uc001xms.2	+	7	2580	c.2232G>A	c.(2230-2232)CCG>CCA	p.P744P	SIPA1L1_uc001xmt.2_Silent_p.P744P|SIPA1L1_uc001xmu.2_Silent_p.P744P|SIPA1L1_uc001xmv.2_Silent_p.P744P|SIPA1L1_uc010ttm.1_Silent_p.P219P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	744	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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCACAATCCGTGCTCTGACA	0.507													A	72128161	G	A	72128161	2	1	160	1	0	0	0	0	0	0	0	1	14329	1132	40	1		1	SIPA1L1	14	72128161	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1019062	72128161	35221379	810	87696											
HEATR4	399671	broad.mit.edu	37	chr14	73989730	73989730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccataggcacactggagaCagaggcacactcctccttgc	10	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:73989730C>T	uc010tub.1	-	3	449	c.127G>A	c.(127-129)GTC>ATC	p.V43I	HEATR4_uc010tua.1_5'UTR	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ACACTGGAGACAGAGGCACAC	0.488													T	73989730	C	T	73989730	3	4	160	1	0	0	0	0	1	0	0	0	7030	493	17	4		4	HEATR4	14	73989730	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1861569	73989730	33359810	811	87697											
C14orf43	91748	broad.mit.edu	37	chr14	74196362	74196362	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtccggagcagcgtgcgAtgggcactcttaggcgtgat	15	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:74196362A>C	uc001xot.2	-	4	2859	c.2076T>G	c.(2074-2076)CAT>CAG	p.H692Q	C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.H692Q|C14orf43_uc010tud.1_Missense_Mutation_p.H692Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCAGCGTGCGATGGGCACTCT	0.647													C	74196362	A	C	74196362	3	2	160	1	0	0	0	0	1	0	0	0	1774	330	12	5	1097	5	C14orf43	14	74196362	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	206632	74196362	33153178	812	87698											
TGFB3	7043	broad.mit.edu	37	chr14	76427265	76427265	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatgagcctgctccataCcgtgctgtgggttgtgtctg	14	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:76427265C>T	uc001xsc.2	-	6	1936	c.1080_splice	c.e6+1	p.T360_splice		NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor						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			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CTGCTCCATACCGTGCTGTGG	0.527													T	76427265	C	T	76427265	5	4	160	1	0	0	0	0	0	0	1	0	15816	521	18	4	165	4	TGFB3	14	76427265	Splice_Site	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2230903	76427265	30922275	813	87699											
C14orf174	161394	broad.mit.edu	37	chr14	77844529	77844529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaaaaggacagagccAcccgagcaggctagactgga	14	9	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:77844529A>G	uc001xtq.1	+	1	768	c.768A>G	c.(766-768)CCA>CCG	p.P256P	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	256											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		GGACAGAGCCACCCGAGCAGG	0.493													G	77844529	A	G	77844529	2	3	160	1	0	0	0	0	0	0	0	1	1759	146	6	3		3	C14orf174	14	77844529	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1417264	77844529	29505011	814	87700											
NRXN3	9369	broad.mit.edu	37	chr14	79181293	79181293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacctattcattgatgggCgcagcaagaacattcgacag	11	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:79181293C>T	uc001xun.2	+	5	1227	c.736C>T	c.(736-738)CGC>TGC	p.R246C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R380C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	619	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATTGATGGGCGCAGCAAGAA	0.577													T	79181293	C	T	79181293	3	4	160	1	0	0	0	0	1	0	0	0	10667	768	27	1	746	1	NRXN3	14	79181293	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1336764	79181293	28168247	815	87701											
PTPN21	11099	broad.mit.edu	37	chr14	88945851	88945851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggccgtggctgagccCggccacctcgatgctgttcc	12	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:88945851C>T	uc001xwv.3	-	13	2255	c.1924G>A	c.(1924-1926)GGG>AGG	p.G642R	PTPN21_uc010twc.1_Missense_Mutation_p.G438R	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	642						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TGGCTGAGCCCGGCCACCTCG	0.741													T	88945851	C	T	88945851	3	4	160	1	0	0	0	0	1	0	0	0	12786	652	23	1	1628	1	PTPN21	14	88945851	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9764558	88945851	18403689	816	87702											
KCNK13	56659	broad.mit.edu	37	chr14	90528604	90528604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgaacgaggacaacgcgCgctttctgctgctggccgcg	13	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:90528604C>T	uc001xye.1	+	1	497	c.55C>T	c.(55-57)CGC>TGC	p.R19C		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	19	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GGACAACGCGCGCTTTCTGCT	0.756													T	90528604	C	T	90528604	3	4	160	1	0	0	0	0	1	0	0	0	8061	768	27	1	57	1	KCNK13	14	90528604	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1582753	90528604	16820936	817	87703											
CPSF2	53981	broad.mit.edu	37	chr14	92601758	92601758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccagctggtcatatgAtaggtggaacaatatggaaa	11	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:92601758A>G	uc001yah.1	+	6	700	c.463A>G	c.(463-465)ATA>GTA	p.I155V		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	155					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			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGTCATATGATAGGTGGAAC	0.383													G	92601758	A	G	92601758	3	3	160	1	0	0	0	0	1	0	0	0	3825	333	12	3	477	3	CPSF2	14	92601758	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2073154	92601758	14747782	818	87704											
BTBD7	55727	broad.mit.edu	37	chr14	93709015	93709015	+	Frame_Shift_Del	DEL	T	T	-													tctctcctagcttcttcctgTtttttaggagacgtctgacc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:93709014_93709014GT>G	uc001ybo.3	-	10	3330	c.3004_3004AC>C	c.(3004-3006)cagfs	p.Q1002fs	BTBD7_uc010aur.3_Frame_Shift_Del_p.Q527fs|BTBD7_uc010two.2_Frame_Shift_Del_p.Q822fs|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Q651fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1002										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)		GCTTCTTCCTGTTTTTTAGGA	0.488													-	93709015	T	-	93709015	7	5	160	1	0	1	0	1	0	0	0	0	1546	1722	60	0	399	0	BTBD7	14	93709015	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	1107257	93709015	13640525	819	87705											
DICER1	23405	broad.mit.edu	37	chr14	95562465	95562465	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcacagggccttttcccgatCagtccttttaattaccggga	9	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:95562465C>T	uc001ydw.2	-	24	4974	c.4792G>A	c.(4792-4794)GAT>AAT	p.D1598N	DICER1_uc010avh.1_Missense_Mutation_p.D496N|DICER1_uc001ydv.2_Missense_Mutation_p.D1588N|DICER1_uc001ydx.2_Missense_Mutation_p.D1598N|DICER1_uc001ydy.1_Missense_Mutation_p.D450N	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1598					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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTTTCCCGATCAGTCCTTTTA	0.542			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95562465	C	T	95562465	3	4	160	1	0	0	0	0	1	0	0	0	4521	826	29	4	996	4	DICER1	14	95562465	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1853450	95562465	11787075	820	87706											
EIF5	1983	broad.mit.edu	37	chr14	103807325	103807325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattcgaaggctgccagtgTaccgaaagttgagactgtaa	12	7	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:103807325T>C	uc001ymq.2	+	12	1754	c.1232T>C	c.(1231-1233)GTA>GCA	p.V411A	EIF5_uc001ymr.2_Missense_Mutation_p.V411A|EIF5_uc001yms.2_Missense_Mutation_p.V411A|EIF5_uc001ymt.2_Missense_Mutation_p.V411A|EIF5_uc001ymu.2_Missense_Mutation_p.V411A	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	411					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			GCTGCCAGTGTACCGAAAGTT	0.368													C	103807325	T	C	103807325	3	2	160	1	0	0	0	0	1	0	0	0	5040	1638	57	3	1270	3	EIF5	14	103807325	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	8244860	103807325	3542215	821	87707											
KIAA0284	283638	broad.mit.edu	37	chr14	105353595	105353595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagtgcccgtgagcagTcctcagagaggcagcatcac	13	12	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:105353595T>C	uc010axb.2	+	12	3243	c.3019T>C	c.(3019-3021)TCC>CCC	p.S1007P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.S937P|KIAA0284_uc001yps.2_Missense_Mutation_p.S913P|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1007						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCGTGAGCAGTCCTCAGAGAG	0.692													C	105353595	T	C	105353595	3	2	160	1	0	0	0	0	1	0	0	0	8166	1667	58	3	3061	3	KIAA0284	14	105353595	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1546270	105353595	1995945	822	87708											
AHNAK2	113146	broad.mit.edu	37	chr14	105416224	105416224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggggaggctcacttcgGcctccaccttcggcgcagac	14	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:105416224G>A	uc010axc.1	-	7	5684	c.5564C>T	c.(5563-5565)GCC>GTC	p.A1855V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A1755V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1855						nucleus				ovary(1)	1		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)			GCTCACTTCGGCCTCCACCTT	0.617													A	105416224	G	A	105416224	3	1	160	1	0	0	0	0	1	0	0	0	415	1203	42	2	11827	2	AHNAK2	14	105416224	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	62629	105416224	1933316	823	87709											
CYFIP1	23191	broad.mit.edu	37	chr15	22954217	22954217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcccccgcaggtgatcgCcatgatcaaaggcctgcagg	13	13	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:22954217C>T	uc001yus.2	+	14	1471	c.1367C>T	c.(1366-1368)GCC>GTC	p.A456V	CYFIP1_uc001yut.2_Missense_Mutation_p.A456V|CYFIP1_uc010aya.1_Missense_Mutation_p.A484V|CYFIP1_uc001yuu.2_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	456					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			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		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)		CAGGTGATCGCCATGATCAAA	0.642													T	22954217	C	T	22954217	3	4	160	1	0	0	0	0	1	0	0	0	4137	739	26	2	1417	2	CYFIP1	15	22954217	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		22954217	79577175	824	87710											
MAGEL2	54551	broad.mit.edu	37	chr15	23890196	23890196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctagcgtgtggccacgGctgtcctcttgggcttccag	14	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:23890196G>A	uc001ywj.3	-	1	980	c.885C>T	c.(883-885)AGC>AGT	p.S295S		NM_019066	NP_061939			MAGE-like protein 2												0		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)		TGTGGCCACGGCTGTCCTCTT	0.622													A	23890196	G	A	23890196	2	1	160	1	0	0	0	0	0	0	0	1	9189	1194	42	2		2	MAGEL2	15	23890196	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	935979	23890196	78641196	825	87711											
ATP10A	57194	broad.mit.edu	37	chr15	25958904	25958904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcggtaagcgggtgcCggatcaccactgacatcctc	10	14	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:25958904C>A	uc010ayu.2	-	10	2367	c.2261G>T	c.(2260-2262)CGG>CTG	p.R754L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	754	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		AAGCGGGTGCCGGATCACCAC	0.607													A	25958904	C	A	25958904	3	1	160	1	0	0	0	0	1	0	0	0	1116	652	23	5	2286	5	ATP10A	15	25958904	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2068708	25958904	76572488	826	87712											
OCA2	4948	broad.mit.edu	37	chr15	28202854	28202854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcgctgagcagtcaggCgccagacgtgaatctcgtgc	14	11	2	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:28202854C>T	uc001zbh.3	-	16	1774	c.1664G>A	c.(1663-1665)CGC>CAC	p.R555H	OCA2_uc010ayv.2_Missense_Mutation_p.R531H	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	555	Cytoplasmic (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		AGCAGTCAGGCGCCAGACGTG	0.632									Oculocutaneous_Albinism				T	28202854	C	T	28202854	3	4	160	1	0	0	0	0	1	0	0	0	10815	768	27	1	888	1	OCA2	15	28202854	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2243950	28202854	74328538	827	87713											
TRPM1	4308	broad.mit.edu	37	chr15	31294572	31294572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtttcatcggggaaatagCgtgtaattttggtttcttcc	10	7	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:31294572C>T	uc001zfm.2	-	27	4393	c.4265G>A	c.(4264-4266)CGC>CAC	p.R1422H	TRPM1_uc010azy.2_Missense_Mutation_p.R1329H|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1422	Cytoplasmic (Potential).		R -> W.		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		GGGGAAATAGCGTGTAATTTT	0.438													T	31294572	C	T	31294572	3	4	160	1	0	0	0	0	1	0	0	0	16582	768	27	1	550	1	TRPM1	15	31294572	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3091718	31294572	71236820	828	87714											
RYR3	6263	broad.mit.edu	37	chr15	33954456	33954456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccctgggaaacagccgCgtggcctacgccctgtgcag	14	15	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:33954456C>T	uc001zhi.2	+	35	4795	c.4725C>T	c.(4723-4725)CGC>CGT	p.R1575R	RYR3_uc010bar.2_Silent_p.R1575R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1575	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GAAACAGCCGCGTGGCCTACG	0.597													T	33954456	C	T	33954456	2	4	160	1	0	0	0	0	0	0	0	1	13770	755	27	1		1	RYR3	15	33954456	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2659884	33954456	68576936	829	87715											
RYR3	6263	broad.mit.edu	37	chr15	33999249	33999249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaggtttgctgtcttcGtgaacagtgagtcccacatt	10	10	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:33999249G>A	uc001zhi.2	+	43	6683	c.6613G>A	c.(6613-6615)GTG>ATG	p.V2205M	RYR3_uc010bar.2_Missense_Mutation_p.V2205M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2205	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TGCTGTCTTCGTGAACAGTGA	0.483													A	33999249	G	A	33999249	3	1	160	1	0	0	0	0	1	0	0	0	13770	1145	40	1	6783	1	RYR3	15	33999249	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	44793	33999249	68532143	830	87716											
RYR3	6263	broad.mit.edu	37	chr15	34030748	34030748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaagagctgcacctaaCggagaagcttttctggggga	15	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:34030748C>T	uc001zhi.2	+	50	7683	c.7613C>T	c.(7612-7614)ACG>ATG	p.T2538M	RYR3_uc010bar.2_Missense_Mutation_p.T2538M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2538	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CTGCACCTAACGGAGAAGCTT	0.483											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34030748	C	T	34030748	3	4	160	1	0	0	0	0	1	0	0	0	13770	536	19	1	7811	1	RYR3	15	34030748	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	31499	34030748	68500644	831	87717											
THBS1	7057	broad.mit.edu	37	chr15	39874866	39874866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaatgctgagttggaCgtccccatccaaagcgtctt	11	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:39874866C>T	uc001zkh.2	+	3	719	c.540C>T	c.(538-540)GAC>GAT	p.D180D		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	180	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		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)	CTGAGTTGGACGTCCCCATCC	0.562													T	39874866	C	T	39874866	2	4	160	1	0	0	0	0	0	0	0	1	15850	535	19	1		1	THBS1	15	39874866	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5844118	39874866	62656526	832	87718											
BAHD1	22893	broad.mit.edu	37	chr15	40751366	40751366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcagaagtagatgggCgctccactgagcccccagca	11	15	0	3	rs140194867		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:40751366C>T	uc001zlu.2	+	2	774	c.703C>T	c.(703-705)CGC>TGC	p.R235C	BAHD1_uc001zlt.2_Missense_Mutation_p.R235C|BAHD1_uc010bbp.1_Missense_Mutation_p.R235C|BAHD1_uc001zlv.2_Missense_Mutation_p.R235C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	235					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AGTAGATGGGCGCTCCACTGA	0.627													T	40751366	C	T	40751366	3	4	160	1	0	0	0	0	1	0	0	0	1297	768	27	1	705	1	BAHD1	15	40751366	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	876500	40751366	61780026	833	87719											
DLL4	54567	broad.mit.edu	37	chr15	41228765	41228765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcttgccgcccagctTcccctgggtggccgtctcgc	14	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:41228765T>C	uc001zng.1	+	9	1900	c.1580T>C	c.(1579-1581)TTC>TCC	p.F527S		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	527	Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		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)		CCGCCCAGCTTCCCCTGGGTG	0.667													C	41228765	T	C	41228765	3	2	160	1	0	0	0	0	1	0	0	0	4568	1783	62	3	1614	3	DLL4	15	41228765	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	477399	41228765	61302627	834	87720											
TGM7	116179	broad.mit.edu	37	chr15	43579478	43579478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgatctttcgctcacCggtgcacataacagaggcga	12	10	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:43579478C>T	uc001zrf.1	-	6	870	c.865G>A	c.(865-867)GTA>ATA	p.V289I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	289					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTTCGCTCACCGGTGCACATA	0.373													T	43579478	C	T	43579478	3	4	160	1	0	0	0	0	1	0	0	0	15832	666	23	1	1299	1	TGM7	15	43579478	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2350713	43579478	58951914	835	87721											
MAP1A	4130	broad.mit.edu	37	chr15	43814151	43814151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagcattgaggaggcctgCctcactctgcagcacttaaa	10	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:43814151C>T	uc001zrt.2	+	4	947	c.480C>T	c.(478-480)TGC>TGT	p.C160C		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	160						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	AGGAGGCCTGCCTCACTCTGC	0.537													T	43814151	C	T	43814151	2	4	160	1	0	0	0	0	0	0	0	1	9227	747	26	2		2	MAP1A	15	43814151	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	234673	43814151	58717241	836	87722											
MAP1A	4130	broad.mit.edu	37	chr15	43818213	43818213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataaggctccggaggacacGgtcgctgaaatgaaggacag	14	9	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:43818213G>A	uc001zrt.2	+	4	5009	c.4542G>A	c.(4540-4542)ACG>ACA	p.T1514T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1514						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	CGGAGGACACGGTCGCTGAAA	0.468													A	43818213	G	A	43818213	2	1	160	1	0	0	0	0	0	0	0	1	9227	1103	39	1		1	MAP1A	15	43818213	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4062	43818213	58713179	837	87723											
B2M	567	broad.mit.edu	37	chr15	45003779	45003779	+	Missense_Mutation	SNP	T	T	A													ggccttagctgtgctcgcgcTactctctctttctggcctgg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:45003779T>A	uc001zuc.2	+	1	95	c.35T>A	c.(34-36)CTA>CAA	p.L12Q	B2M_uc010uek.1_Missense_Mutation_p.L12Q|B2M_uc010bdx.1_Missense_Mutation_p.L12Q	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	12					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			ovary(2)|skin(1)	3		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)		GTGCTCGCGCTACTCTCTCTT	0.617													A	45003779	T	A	45003779	3	1	160	1	0	0	0	0	1	0	0	0	1244	1522	53	5	37	5	B2M	15	45003779	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1185566	45003779	57527613	838	87724	427	2									
B2M	567	broad.mit.edu	37	chr15	45003786	45003789	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													gctgtgctcgcgctactctcTctttctggcctggaggctat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:45003785_45003788CTCTT>C	uc001zuc.3	+	0	101_104	c.41_44CTCTT>C	c.(40-45)tctcttfs	p.S14fs	B2M_uc010uek.1_Frame_Shift_Del_p.S14fs|B2M_uc010bdx.1_Frame_Shift_Del_p.S14fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	14					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	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(6)|p.A11fs*42(1)|p.L13F(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)		GCGCTACTCTCTCTTTCTGGCCTG	0.618													-	45003789	TCTT	-	45003786	7	5	160	1	0	1	0	1	0	0	0	0	1244	1538	54	0	44	0	B2M	15	45003786	Frame_Shift_Del	DEL	TCTT	TCGA-CD-A4MI-01A-21D-A25D-08	7	45003786	57527606	839	87725	427	2									
SEMA6D	80031	broad.mit.edu	37	chr15	48052500	48052500	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagcccatttttacttgcaGattcaaggcaatatccggtt	7	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:48052500G>A	uc010bek.2	+	3	470	c.110_splice	c.e3-1	p.Y37_splice	SEMA6D_uc001zvw.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zvx.1_Splice_Site_p.Y37_splice|SEMA6D_uc001zvy.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zvz.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwa.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwb.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwc.2_Splice_Site_p.Y37_splice	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		TTTACTTGCAGATTCAAGGCA	0.408													A	48052500	G	A	48052500	5	1	160	1	0	0	0	0	0	0	1	0	14042	956	33	4	115	4	SEMA6D	15	48052500	Splice_Site	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3048714	48052500	54478892	840	87726											
FBN1	2200	broad.mit.edu	37	chr15	48730036	48730036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcacagcagcattccTgcttggagtgatttctggat	11	9	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:48730036T>C	uc001zwx.1	-	51	6570	c.6242A>G	c.(6241-6243)CAG>CGG	p.Q2081R	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2081	TB 8.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGCATTCCTGCTTGGAGTG	0.493													C	48730036	T	C	48730036	3	2	160	1	0	0	0	0	1	0	0	0	5702	1580	55	3	2437	3	FBN1	15	48730036	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	677536	48730036	53801356	841	87727											
DMXL2	23312	broad.mit.edu	37	chr15	51828804	51828804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatcagcaaaagtgactgCccactgatttaaagaaccat	6	10	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:51828804C>T	uc002abf.2	-	12	2098	c.1873G>A	c.(1873-1875)GCA>ACA	p.A625T	DMXL2_uc010ufy.1_Missense_Mutation_p.A625T|DMXL2_uc010bfa.2_Missense_Mutation_p.A625T	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	625	WD 5.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AAAGTGACTGCCCACTGATTT	0.408													T	51828804	C	T	51828804	3	4	160	1	0	0	0	0	1	0	0	0	4595	739	26	2	7368	2	DMXL2	15	51828804	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3098768	51828804	50702588	842	87728											
UNC13C	440279	broad.mit.edu	37	chr15	54542453	54542453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaagaagaccttgcagGcactgatctaccctatgtct	7	12	4	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:54542453G>A	uc002ack.2	+	6	3259	c.3259G>A	c.(3259-3261)GCA>ACA	p.A1087T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1087					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACCTTGCAGGCACTGATCTA	0.458													A	54542453	G	A	54542453	3	1	160	1	0	0	0	0	1	0	0	0	16983	1203	42	2	3281	2	UNC13C	15	54542453	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2713649	54542453	47988939	843	87729											
HERC1	8925	broad.mit.edu	37	chr15	63970208	63970208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccagcacgggccacacCtctatgcaaagagtcctcag	9	15	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:63970208C>T	uc002amp.2	-	37	7054	c.6906G>A	c.(6904-6906)GAG>GAA	p.E2302E		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2302					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CGGGCCACACCTCTATGCAAA	0.547													T	63970208	C	T	63970208	2	4	160	1	0	0	0	0	0	0	0	1	7057	680	24	4		4	HERC1	15	63970208	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9427755	63970208	38561184	844	87730											
SNX22	79856	broad.mit.edu	37	chr15	64446187	64446187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtggatccctatgtttGcaacccctccccaggtgagg	10	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:64446187G>A	uc002anc.1	+	6	505	c.446G>A	c.(445-447)TGC>TAC	p.C149Y	SNX22_uc002amz.1_Missense_Mutation_p.C121Y|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	149					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CCCTATGTTTGCAACCCCTCC	0.612											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	64446187	G	A	64446187	3	1	160	1	0	0	0	0	1	0	0	0	14894	1319	46	2	468	2	SNX22	15	64446187	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	475979	64446187	38085205	845	87731											
BBS4	585	broad.mit.edu	37	chr15	73007688	73007688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctagaactcttccagacaTgtgcagttcttagtcctcag	7	13	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:73007688T>C	uc002avb.2	+	5	320	c.277T>C	c.(277-279)TGT>CGT	p.C93R	BBS4_uc010ukv.1_Missense_Mutation_p.C81R|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Missense_Mutation_p.C101R	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	93	TPR 1.				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				0						CTTCCAGACATGTGCAGTTCT	0.433									Bardet-Biedl_syndrome				C	73007688	T	C	73007688	3	2	160	1	0	0	0	0	1	0	0	0	1339	1464	51	3	295	3	BBS4	15	73007688	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	8561501	73007688	29523704	846	87732											
CCDC33	80125	broad.mit.edu	37	chr15	74623544	74623544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgctctgctctccagGtgatcgagaagatggagcgg	14	11	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:74623544G>T	uc002axo.2	+	15	2072	c.1678G>T	c.(1678-1680)GTG>TTG	p.V560L	CCDC33_uc002axp.2_Missense_Mutation_p.V382L|CCDC33_uc002axq.2_Missense_Mutation_p.V153L|CCDC33_uc002axr.2_Missense_Mutation_p.V153L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	763	Potential.						protein binding			ovary(3)|skin(2)	5						TGCTCTCCAGGTGATCGAGAA	0.652													T	74623544	G	T	74623544	3	4	160	1	0	0	0	0	1	0	0	0	2806	1275	44	5	1809	5	CCDC33	15	74623544	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1615856	74623544	27907848	847	87733											
LMAN1L	79748	broad.mit.edu	37	chr15	75105256	75105256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctgctcctggaccccCacagccctgagacggggtgt	11	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:75105256C>A	uc002ayt.1	+	1	63	c.61C>A	c.(61-63)CAC>AAC	p.H21N	LMAN1L_uc010bkd.2_Intron|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.H21N	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	21						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CCTGGACCCCCACAGCCCTGA	0.607													A	75105256	C	A	75105256	3	1	160	1	0	0	0	0	1	0	0	0	8837	594	21	5	63	5	LMAN1L	15	75105256	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	481712	75105256	27426136	848	87734											
ODF3L1	161753	broad.mit.edu	37	chr15	76019508	76019508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccggcgcccatacagagTgatggacctcaacccggctc	10	16	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:76019508T>C	uc002bax.1	+	4	674	c.452T>C	c.(451-453)GTG>GCG	p.V151A		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	151											0						CCATACAGAGTGATGGACCTC	0.627													C	76019508	T	C	76019508	3	2	160	1	0	0	0	0	1	0	0	0	10831	1696	59	3	466	3	ODF3L1	15	76019508	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	914252	76019508	26511884	849	87735											
TSPAN3	10099	broad.mit.edu	37	chr15	77348191	77348191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgacaaaaaccaagagCaggatgatgacaaactgtaa	9	7	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:77348191C>T	uc002bcj.2	-	3	487	c.270G>A	c.(268-270)CTG>CTA	p.L90L	TSPAN3_uc002bck.2_Intron|TSPAN3_uc010ump.1_Silent_p.L26L|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	90	Helical; (Potential).					integral to membrane					0				all cancers(203;1.14e-19)		AAACCAAGAGCAGGATGATGA	0.294													T	77348191	C	T	77348191	2	4	160	1	0	0	0	0	0	0	0	1	16642	697	25	2		2	TSPAN3	15	77348191	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1328683	77348191	25183201	850	87736											
MORF4L1	10933	broad.mit.edu	37	chr15	79189365	79189365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caactttgttcagtgccagcGattatgaagtggctcctcct	9	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:79189365G>A	uc002bel.2	+	13	1233	c.1045G>A	c.(1045-1047)GAT>AAT	p.D349N	MORF4L1_uc002bem.2_Missense_Mutation_p.D310N|MORF4L1_uc010une.1_Missense_Mutation_p.D222N	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	349					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				0						CAGTGCCAGCGATTATGAAGT	0.373													A	79189365	G	A	79189365	3	1	160	1	0	0	0	0	1	0	0	0	9706	1058	37	1	1095	1	MORF4L1	15	79189365	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1841174	79189365	23342027	851	87737											
ARNT2	9915	broad.mit.edu	37	chr15	80866507	80866507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcaacttcagcaacagcaGgcagaattggaagtgcacca	11	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:80866507G>T	uc002bfr.2	+	13	1501	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	ARNT2_uc010unm.1_Missense_Mutation_p.Q434H|ARNT2_uc002bfs.2_Missense_Mutation_p.Q434H	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	445	Poly-Gln.				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			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGCAACAGCAGGCAGAATTGG	0.483													T	80866507	G	T	80866507	3	4	160	1	0	0	0	0	1	0	0	0	966	991	35	5	1385	5	ARNT2	15	80866507	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1677142	80866507	21664885	852	87738											
IL16	3603	broad.mit.edu	37	chr15	81601118	81601118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccagtccaaggaaacCacagctgctggagactccta	9	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:81601118C>T	uc002bgh.3	+	19	4354	c.3978C>T	c.(3976-3978)ACC>ACT	p.T1326T	IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1367T|IL16_uc002bgg.2_Silent_p.T1325T|IL16_uc002bgj.2_Silent_p.T819T|IL16_uc002bgk.2_Silent_p.T625T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1326					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CCAAGGAAACCACAGCTGCTG	0.527													T	81601118	C	T	81601118	2	4	160	1	0	0	0	0	0	0	0	1	7633	581	21	4		4	IL16	15	81601118	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	734611	81601118	20930274	853	87739											
MEX3B	84206	broad.mit.edu	37	chr15	82336174	82336174	+	Frame_Shift_Del	DEL	C	C	-													gggatggcactgaggcttctCcccccgctgtgtaggtgtac							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:82336173_82336173TC>T	uc002bgq.1	-	1	1353	c.1038_1038GA>A	c.(1036-1038)ggafs	p.G346fs		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	346					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTGAGGCTTCTCCCCCCGCTG	0.647													-	82336174	C	-	82336174	7	5	160	1	0	1	0	1	0	0	0	0	9510	855	30	0	676	0	MEX3B	15	82336174	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	735056	82336174	20195218	854	87740											
ZSCAN2	54993	broad.mit.edu	37	chr15	85147384	85147384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaggggaccacagggtGcactcggccgcctccgagag	15	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:85147384G>A	uc002bkr.2	+	2	452	c.226G>A	c.(226-228)GCA>ACA	p.A76T	ZSCAN2_uc002bkp.2_Missense_Mutation_p.A76T|ZSCAN2_uc002bkq.2_Missense_Mutation_p.A76T|ZSCAN2_uc010bmz.1_Missense_Mutation_p.A75T|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.A75T|ZSCAN2_uc010uoy.1_Missense_Mutation_p.A75T|ZSCAN2_uc010uoz.1_Missense_Mutation_p.A75T	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	76	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCACAGGGTGCACTCGGCCG	0.627													A	85147384	G	A	85147384	3	1	160	1	0	0	0	0	1	0	0	0	18228	1319	46	2	228	2	ZSCAN2	15	85147384	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2811210	85147384	17384008	855	87741											
SEMA4B	10509	broad.mit.edu	37	chr15	90768580	90768582	+	In_Frame_Del	DEL	TCT	TCT	-													catcattgaggagctgcagaTcttctcatcgggacagcccg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:90768580_90768582delTCT	uc002boy.2	+	12	1755_1757	c.1472_1474delTCT	c.(1471-1476)ATCTTC>ATC	p.F492del	SEMA4B_uc002boz.2_In_Frame_Del_p.F492del|SEMA4B_uc010uqd.1_In_Frame_Del_p.F330del|SEMA4B_uc002bpa.2_In_Frame_Del_p.F330del|SEMA4B_uc010bnv.1_In_Frame_Del_p.F130del	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	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)			GAGCTGCAGATCTTCTCATCGGG	0.64													-	90768582	TCT	-	90768580	7	5	160	1	0	1	0	1	0	0	0	0	14032	1435	50	0	1514	0	SEMA4B	15	90768580	In_Frame_Del	DEL	TCT	TCGA-CD-A4MI-01A-21D-A25D-08	5621196	90768580	11762812	856	87742											
MPG	4350	broad.mit.edu	37	chr16	135514	135514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgtgtcctcaaggaccGcgagctctgcagtggcccct	12	16	2	0	rs142373562		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:135514G>A	uc002cfn.2	+	5	953	c.635G>A	c.(634-636)CGC>CAC	p.R212H	MPG_uc002cfm.2_Missense_Mutation_p.R195H|MPG_uc002cfo.2_Missense_Mutation_p.R207H|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	212					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCAAGGACCGCGAGCTCTGC	0.632								BER_DNA_glycosylases					A	135514	G	A	135514	3	1	160	1	0	0	0	0	1	0	0	0	9724	1087	38	1	677	1	MPG	16	135514	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		135514	90219239	857	87743											
CASKIN1	57524	broad.mit.edu	37	chr16	2237063	2237063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcccggacctgcagggcCgctgaggcctctggggatac	16	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:2237063C>T	uc010bsg.1	-	9	878	c.846G>A	c.(844-846)GCG>GCA	p.A282A		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	282	SH3.				signal transduction	cytoplasm				skin(2)	2						CCTGCAGGGCCGCTGAGGCCT	0.657													T	2237063	C	T	2237063	2	4	160	1	0	0	0	0	0	0	0	1	2666	639	23	1		1	CASKIN1	16	2237063	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2101549	2237063	88117690	858	87744											
ABCA3	21	broad.mit.edu	37	chr16	2329104	2329104	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcaaggcatcaaactGcgggcagtagccgatccgct	12	13	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:2329104G>A	uc002cpy.1	-	29	5099	c.4387C>T	c.(4387-4389)CAG>TAG	p.Q1463*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.Q1405*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1463	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCATCAAACTGCGGGCAGTAG	0.677													A	2329104	G	A	2329104	4	1	160	1	0	0	0	0	0	1	0	0	33	1328	46	2	747	2	ABCA3	16	2329104	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	92041	2329104	88025649	859	87745											
SRRM2	23524	broad.mit.edu	37	chr16	2815886	2815886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaaaacaagaacaacccGacgtcgagataggtctggat	11	8	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:2815886G>A	uc002crk.2	+	11	5906	c.5357G>A	c.(5356-5358)CGA>CAA	p.R1786Q	SRRM2_uc002crj.1_Missense_Mutation_p.R1690Q|SRRM2_uc002crl.1_Missense_Mutation_p.R1786Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R1690Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1786	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGAACAACCCGACGTCGAGAT	0.597													A	2815886	G	A	2815886	3	1	160	1	0	0	0	0	1	0	0	0	15168	1058	37	1	5395	1	SRRM2	16	2815886	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	486782	2815886	87538867	860	87746											
ZNF434	54925	broad.mit.edu	37	chr16	3434841	3434841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggccctgtagatctgGctgttctgctgacaggtctg	13	11	3	2	rs34249904		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:3434841G>A	uc002cuz.2	-	5	1018	c.216C>T	c.(214-216)AGC>AGT	p.S72S	ZNF434_uc002cux.3_Silent_p.S283S|ZNF434_uc010uwx.1_5'UTR|ZNF434_uc002cuy.3_5'UTR|ZNF434_uc010uwy.1_5'UTR|ZNF434_uc010uwz.1_Silent_p.S283S|ZNF434_uc010uxa.1_Silent_p.S72S	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTAGATCTGGCTGTTCTGCT	0.517													A	3434841	G	A	3434841	2	1	160	1	0	0	0	0	0	0	0	1	17905	1194	42	2		2	ZNF434	16	3434841	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	618955	3434841	86919912	861	87747											
ADCY9	115	broad.mit.edu	37	chr16	4016604	4016604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacccggtagcactccttGccgccctcgtagttctcctc	9	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:4016604G>A	uc002cvx.2	-	11	3773	c.3234C>T	c.(3232-3234)GGC>GGT	p.G1078G		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1078	Guanylate cyclase 2.|Cytoplasmic (Potential).				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			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AGCACTCCTTGCCGCCCTCGT	0.567													A	4016604	G	A	4016604	2	1	160	1	0	0	0	0	0	0	0	1	301	1306	46	2		2	ADCY9	16	4016604	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	581763	4016604	86338149	862	87748											
ROGDI	79641	broad.mit.edu	37	chr16	4848176	4848176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggacggcagggcaggggCgaacatccgctgcgggaggc	20	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:4848176C>T	uc002cxv.2	-	8	643	c.541G>A	c.(541-543)GCC>ACC	p.A181T	ROGDI_uc002cxu.2_Missense_Mutation_p.A91T|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.A91T	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	181						intracellular				ovary(1)|skin(1)	2						AGGGCAGGGGCGAACATCCGC	0.652													T	4848176	C	T	4848176	3	4	160	1	0	0	0	0	1	0	0	0	13520	768	27	1	338	1	ROGDI	16	4848176	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	831572	4848176	85506577	863	87749											
USP7	7874	broad.mit.edu	37	chr16	8987861	8987861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagcttggaaatcagttAtggattttaatggccttttc	8	8	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:8987861A>G	uc002czl.2	-	31	3502	c.3303T>C	c.(3301-3303)CAT>CAC	p.H1101H	USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.H1002H|USP7_uc002czk.2_Silent_p.H1085H	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	1101					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			ovary(3)	3						GAAATCAGTTATGGATTTTAA	0.512													G	8987861	A	G	8987861	2	3	160	1	0	0	0	0	0	0	0	1	17085	446	16	3		3	USP7	16	8987861	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	4139685	8987861	81366892	864	87750											
USP7	7874	broad.mit.edu	37	chr16	8993506	8993508	+	In_Frame_Del	DEL	ATC	ATC	-													aacgtaaccacaaatccaggAtcattagggattgttttatc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:8993505_8993507GATC>G	uc002czl.2	-	21	2616_2618	c.2417_2419GATC>C	c.(2416-2421)gatcct>gCct	p.806_807DP>A	USP7_uc010uyk.1_In_Frame_Del_p.707_708DP>A|USP7_uc010uyj.1_In_Frame_Del_p.707_708DP>A|USP7_uc002czk.2_In_Frame_Del_p.790_791DP>A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	806					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D806Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACAAATCCAGGATCATTAGGGAT	0.369													-	8993508	ATC	-	8993506	7	5	160	1	0	1	0	1	0	0	0	0	17085	330	12	0	930	0	USP7	16	8993506	In_Frame_Del	DEL	ATC	TCGA-CD-A4MI-01A-21D-A25D-08	5645	8993506	81361247	865	87751											
CIITA	4261	broad.mit.edu	37	chr16	11012339	11012339	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctgggtgcctacaaactCgccgaggccctgccttcgct	11	16	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:11012339C>T	uc002dai.3	+	16	3238	c.3105C>T	c.(3103-3105)CTC>CTT	p.L1035L	CIITA_uc002daj.3_Silent_p.L1036L|CIITA_uc002dak.3_Silent_p.L451L	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	1035	LRR 2.				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)	1						CCTACAAACTCGCCGAGGCCC	0.632			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11012339	C	T	11012339	2	4	160	1	0	0	0	0	0	0	0	1	3428	871	31	1		1	CIITA	16	11012339	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2018833	11012339	79342414	866	87752											
RSL1D1	26156	broad.mit.edu	37	chr16	11931680	11931680	+	Frame_Shift_Del	DEL	T	T	-													actttgggttttttgggccaTtttttgggggtgtgggaagc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:11931679_11931679AT>A	uc002dbp.1	-	8	1511	c.1438_1438AT>T	c.(1438-1440)tggfs	p.W480fs	RSL1D1_uc010buv.1_Frame_Shift_Del_p.W479fs|RSL1D1_uc010uyw.1_Frame_Shift_Del_p.W260fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	480					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTTGGGCCATTTTTTGGGG	0.453													-	11931680	T	-	11931680	7	5	160	1	0	1	0	1	0	0	0	0	13700	1490	52	0	39	0	RSL1D1	16	11931680	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	919341	11931680	78423073	867	87753											
ABCC1	4363	broad.mit.edu	37	chr16	16101774	16101774	+	Frame_Shift_Del	DEL	C	C	-													ttttacctctgggcctgtttCcccttctacttcctctatct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:16101773_16101773TC>T	uc010bvi.3	+	1	324	c.149_149TC>T	c.(148-150)ttcfs	p.F50fs	ABCC1_uc010bvj.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvk.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvl.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvm.3_Frame_Shift_Del_p.F50fs|ABCC1_uc002del.4_5'Flank	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	50					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)	TGGGCCTGTTTCCCCTTCTAC	0.507													-	16101774	C	-	16101774	7	5	160	1	0	1	0	1	0	0	0	0	49	854	30	0	156	0	ABCC1	16	16101774	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	4170094	16101774	74252979	868	87754											
TMC5	79838	broad.mit.edu	37	chr16	19451656	19451656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctctagaacaagccCagaccatcctacctctctac	5	17	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:19451656C>A	uc002dgc.3	+	3	1045	c.296C>A	c.(295-297)CCA>CAA	p.P99Q	TMC5_uc010vaq.1_Missense_Mutation_p.P99Q|TMC5_uc002dgb.3_Missense_Mutation_p.P99Q|TMC5_uc010var.1_Missense_Mutation_p.P99Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	99	Extracellular (Potential).					integral to membrane				skin(1)	1						AGAACAAGCCCAGACCATCCT	0.483													A	19451656	C	A	19451656	3	1	160	1	0	0	0	0	1	0	0	0	15985	594	21	5	298	5	TMC5	16	19451656	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3349882	19451656	70903097	869	87755											
ACSM3	6296	broad.mit.edu	37	chr16	20796371	20796371	+	Frame_Shift_Del	DEL	A	A	-													aattacccctgacgtgactgAaaaatggagaaacaagacgg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:20796370_20796370GA>G	uc010vba.2	+	7	1246	c.1171_1171GA>G	c.(1171-1173)gaafs	p.E391fs	ACSM3_uc002dhq.3_Frame_Shift_Del_p.E362fs|ACSM3_uc002dhr.3_Frame_Shift_Del_p.E362fs|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	362					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						TGACGTGACTGAAAAATGGAG	0.423													-	20796371	A	-	20796371	7	5	160	1	0	1	0	1	0	0	0	0	185	246	9	0	1111	0	ACSM3	16	20796371	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	1344715	20796371	69558382	870	87756											
CDR2	1039	broad.mit.edu	37	chr16	22359005	22359005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctccatagtcacccGcttctgccgctccaggctca	6	19	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:22359005G>A	uc002dkn.2	-	5	954	c.646C>T	c.(646-648)CGG>TGG	p.R216W		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	216	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		ATAGTCACCCGCTTCTGCCGC	0.557													A	22359005	G	A	22359005	3	1	160	1	0	0	0	0	1	0	0	0	3172	1086	38	1	722	1	CDR2	16	22359005	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1562634	22359005	67995748	871	87757											
PLK1	5347	broad.mit.edu	37	chr16	23698897	23698898	+	Frame_Shift_Del	DEL	CA	CA	-													gtgacatgctgcagcagctgCacagtgtcaatgcctccaag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:23698896_23698897GCA>G	uc002dlz.1	+	5	1196_1197	c.1143_1144GCA>G	c.(1141-1146)ctgcacfs	p.L381fs		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	381					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|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	ATP binding|anaphase-promoting complex 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)		TGCAGCAGCTGCACAGTGTCAA	0.624													-	23698898	CA	-	23698897	7	5	160	1	0	1	0	1	0	0	0	0	12094	710	25	0	1166	0	PLK1	16	23698897	Frame_Shift_Del	DEL	CA	TCGA-CD-A4MI-01A-21D-A25D-08	1339892	23698897	66655856	872	87758											
ERN2	10595	broad.mit.edu	37	chr16	23703645	23703645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagagaagatgtccacaGcgctggtctggagccagaga	14	10	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:23703645G>A	uc002dma.3	-	18	2421	c.2252C>T	c.(2251-2253)GCT>GTT	p.A751V	ERN2_uc010bxp.2_Missense_Mutation_p.A699V	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	703	Protein kinase.|Cytoplasmic (Potential).				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)		GATGTCCACAGCGCTGGTCTG	0.547													A	23703645	G	A	23703645	3	1	160	1	0	0	0	0	1	0	0	0	5238	971	34	2	692	2	ERN2	16	23703645	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4748	23703645	66651108	873	87759											
GTF3C1	2975	broad.mit.edu	37	chr16	27499732	27499732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaatattcaacctgctGttgcctagacataatcacag	5	13	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:27499732G>A	uc002dov.1	-	23	3556	c.3516C>T	c.(3514-3516)AAC>AAT	p.N1172N	GTF3C1_uc002dou.2_Silent_p.N1172N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1172						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCAACCTGCTGTTGCCTAGAC	0.537													A	27499732	G	A	27499732	2	1	160	1	0	0	0	0	0	0	0	1	6872	1368	48	4		4	GTF3C1	16	27499732	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3796087	27499732	62855021	874	87760											
ATXN2L	11273	broad.mit.edu	37	chr16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-													tgcacccaccccagagtcatGgggggcccccccaaggcgcg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687													-	28847350	G	-	28847350	7	5	160	1	0	1	0	1	0	0	0	0	1212	1348	47	0	3078	0	ATXN2L	16	28847350	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	1347618	28847350	61507403	875	87761											
PRRT2	112476	broad.mit.edu	37	chr16	29824719	29824719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtccaaaccagaagtgaGcaaagaggccactgcagacc	11	11	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:29824719G>A	uc002due.3	+	2	645	c.344G>A	c.(343-345)AGC>AAC	p.S115N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.S115N|PRRT2_uc002duf.1_Missense_Mutation_p.S115N|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	115	Extracellular (Potential).				response to biotic stimulus	integral to membrane					0						CCAGAAGTGAGCAAAGAGGCC	0.622													A	29824719	G	A	29824719	3	1	160	1	0	0	0	0	1	0	0	0	12610	971	34	2	346	2	PRRT2	16	29824719	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	977369	29824719	60530034	876	87762											
ZNF689	115509	broad.mit.edu	37	chr16	30616285	30616285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggggtaggcgaagcgaCgtccacagctagggcactgg	19	9	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:30616285C>T	uc002dyx.2	-	3	1123	c.803G>A	c.(802-804)CGT>CAT	p.R268H	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	268	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GGCGAAGCGACGTCCACAGCT	0.637													T	30616285	C	T	30616285	3	4	160	1	0	0	0	0	1	0	0	0	18091	536	19	1	703	1	ZNF689	16	30616285	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	791566	30616285	59738468	877	87763											
SRCAP	10847	broad.mit.edu	37	chr16	30735944	30735944	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actccagcccagacactgtcTttggcaccaggaccaccact	7	17	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:30735944T>G	uc002dze.1	+	25	5584	c.5199T>G	c.(5197-5199)TCT>TCG	p.S1733S	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.S1528S|SRCAP_uc010bzz.1_Silent_p.S1303S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1733	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGACACTGTCTTTGGCACCAG	0.532													G	30735944	T	G	30735944	2	3	160	1	0	0	0	0	0	0	0	1	15134	1596	56	5		5	SRCAP	16	30735944	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	119659	30735944	59618809	878	87764											
PHKG2	5261	broad.mit.edu	37	chr16	30762564	30762564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccacacggcgagagaCacacatccttcgccaggtcg	12	14	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:30762564C>G	uc002dzk.1	+	3	326	c.233C>G	c.(232-234)ACA>AGA	p.T78R	PHKG2_uc002dzi.1_Missense_Mutation_p.T78R|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.T78R	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	78	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CGGCGAGAGACACACATCCTT	0.627													G	30762564	C	G	30762564	3	3	160	1	0	0	0	0	1	0	0	0	11847	478	17	5	239	5	PHKG2	16	30762564	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	26620	30762564	59592189	879	87765											
ITGAX	3687	broad.mit.edu	37	chr16	31374534	31374534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacggggagcagggccacCcctggggtcgctttggggcg	18	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:31374534C>T	uc002ebu.1	+	14	1616	c.1549C>T	c.(1549-1551)CCC>TCC	p.P517S	ITGAX_uc002ebt.2_Missense_Mutation_p.P517S|ITGAX_uc010vfk.1_Missense_Mutation_p.P167S	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	517	Extracellular (Potential).|FG-GAP 6.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAGGGCCACCCCTGGGGTCG	0.632													T	31374534	C	T	31374534	3	4	160	1	0	0	0	0	1	0	0	0	7889	623	22	4	1603	4	ITGAX	16	31374534	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	611970	31374534	58980219	880	87766											
SLC5A2	6524	broad.mit.edu	37	chr16	31497187	31497187	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtctgtgctctccctTttcctgtacatcttcaccaa	4	15	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:31497187T>G	uc002ecf.3	+	4	460	c.441T>G	c.(439-441)CTT>CTG	p.L147L	SLC5A2_uc010car.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	147	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						TGCTCTCCCTTTTCCTGTACA	0.597													G	31497187	T	G	31497187	2	3	160	1	0	0	0	0	0	0	0	1	14665	1828	64	5		5	SLC5A2	16	31497187	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	122653	31497187	58857566	881	87767											
ZNF423	23090	broad.mit.edu	37	chr16	49670025	49670025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccgtgagtgagttgcgcAggtcagggtgcatctggcag	17	9	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:49670025A>G	uc002efs.2	-	5	3336	c.3038T>C	c.(3037-3039)CTG>CCG	p.L1013P	ZNF423_uc010vgn.1_Missense_Mutation_p.L896P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1013					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGAGTTGCGCAGGTCAGGGTG	0.582													G	49670025	A	G	49670025	3	3	160	1	0	0	0	0	1	0	0	0	17895	188	7	3	836	3	ZNF423	16	49670025	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	18172838	49670025	40684728	882	87768											
SALL1	6299	broad.mit.edu	37	chr16	51171374	51171374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggaacttgacgggattGcctcctagaaatgtcatggg	13	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:51171374G>A	uc010vgs.1	-	3	3655	c.3624C>T	c.(3622-3624)GGC>GGT	p.G1208G	SALL1_uc010vgr.1_Silent_p.G1111G|SALL1_uc010cbv.2_Silent_p.G60G	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1208					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGACGGGATTGCCTCCTAGAA	0.547													A	51171374	G	A	51171374	2	1	160	1	0	0	0	0	0	0	0	1	13810	1306	46	2		2	SALL1	16	51171374	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1501349	51171374	39183379	883	87769											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730177	53730177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacgtgacactgcctggCgagacttcattgtccgtgtt	11	11	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:53730177C>T	uc002ehp.2	-	3	180	c.116G>A	c.(115-117)CGC>CAC	p.R39H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.R39H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R39H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R39H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R39H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R39H|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R39H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	39					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				CACTGCCTGGCGAGACTTCAT	0.398													T	53730177	C	T	53730177	3	4	160	1	0	0	0	0	1	0	0	0	13550	768	27	1	3931	1	RPGRIP1L	16	53730177	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2558803	53730177	36624576	884	87770											
CAPNS2	84290	broad.mit.edu	37	chr16	55601280	55601280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaatgaagatggagatatGgattttaacaatttcatcag	9	4	2	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:55601280G>A	uc002eid.1	+	1	697	c.612G>A	c.(610-612)ATG>ATA	p.M204I	LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	calpain small subunit 2	204	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding				0						ATGGAGATATGGATTTTAACA	0.478													A	55601280	G	A	55601280	3	1	160	1	0	0	0	0	1	0	0	0	2634	1348	47	4	614	4	CAPNS2	16	55601280	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1871103	55601280	34753473	885	87771											
CNGB1	1258	broad.mit.edu	37	chr16	57918087	57918087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttactccgccttctcctccCtttcctccggcatcttcacc	3	21	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:57918087C>A	uc002emt.2	-	33	3802	c.3737G>T	c.(3736-3738)AGG>ATG	p.R1246M	CNGB1_uc010cdh.2_Missense_Mutation_p.R1240M	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1246	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CTTCTCCTCCCTTTCCTCCGG	0.711													A	57918087	C	A	57918087	3	1	160	1	0	0	0	0	1	0	0	0	3600	681	24	5	22	5	CNGB1	16	57918087	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2316807	57918087	32436666	886	87772											
PRSS54	221191	broad.mit.edu	37	chr16	58324917	58324917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactcgctcaggatgcagCcgaaagccaggtgtgtgtac	13	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:58324917C>T	uc002enf.2	-	4	604	c.209G>A	c.(208-210)GGC>GAC	p.G70D	PRSS54_uc002eng.2_Missense_Mutation_p.G70D|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	70	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGGATGCAGCCGAAAGCCAG	0.627													T	58324917	C	T	58324917	3	4	160	1	0	0	0	0	1	0	0	0	12633	739	26	2	994	2	PRSS54	16	58324917	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	406830	58324917	32029836	887	87773											
CA7	766	broad.mit.edu	37	chr16	66886682	66886682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagccggcactactggaCctacccgggctctctgacga	11	16	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:66886682C>T	uc002eqi.2	+	6	693	c.584C>T	c.(583-585)ACC>ATC	p.T195I	uc002eqh.2_Intron|CA7_uc002eqj.2_Missense_Mutation_p.T139I	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	195					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CACTACTGGACCTACCCGGGC	0.602													T	66886682	C	T	66886682	3	4	160	1	0	0	0	0	1	0	0	0	2522	507	18	4	606	4	CA7	16	66886682	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	8561765	66886682	23468071	888	87774											
EXOC3L	283849	broad.mit.edu	37	chr16	67221487	67221487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtccagtctccacctcCgccacacgcacagcagccac	7	20	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:67221487C>T	uc002erx.1	-	5	922	c.681G>A	c.(679-681)GCG>GCA	p.A227A	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Silent_p.A171A|EXOC3L_uc010vje.1_Silent_p.A166A	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	227	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		TCTCCACCTCCGCCACACGCA	0.692													T	67221487	C	T	67221487	2	4	160	1	0	0	0	0	0	0	0	1	5304	639	23	1		1	EXOC3L	16	67221487	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	334805	67221487	23133266	889	87775											
TMEM208	29100	broad.mit.edu	37	chr16	67262461	67262461	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctatgagctcgatggcaCgagcagcgttctctgaggat	12	10	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:67262461C>T	uc002esi.2	+	4	332	c.226C>T	c.(226-228)CGA>TGA	p.R76*	LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	HSPC171 protein	76						integral to membrane					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CTCGATGGCACGAGCAGCGTT	0.602													T	67262461	C	T	67262461	4	4	160	1	0	0	0	0	0	1	0	0	16130	528	19	1	240	1	TMEM208	16	67262461	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	40974	67262461	23092292	890	87776											
DPEP2	64174	broad.mit.edu	37	chr16	68026099	68026100	+	Splice_Site	INS	-	-	G													acataggctgaccagaactgINSgggggaaggccagggtttgg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:68026098_68026099T>TG	uc010cey.3	-	3	555	c.391_splice	c.e3-1	p.F131_splice	DPEP2_uc002eve.3_Splice_Site_p.F131_splice|DPEP2_uc002evf.3_Splice_Site|DPEP2_uc002evg.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	131					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGACCAGAACTGGGGGGAAGGC	0.634													G	68026100	-	G	68026099	8	5	160	1	0	1	1	0	0	0	1	0	4714	1363	47	0		0	DPEP2	16	68026099	Splice_Site	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	763638	68026099	22328654	891	87777											
SLC7A6	9057	broad.mit.edu	37	chr16	68330529	68330529	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaccccctctatttcaGctgagcgtgtttttccccat	5	16	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:68330529G>A	uc002evt.1	+	11	1579	c.1270_splice	c.e11-1	p.L424_splice	SLC7A6_uc002evu.1_Splice_Site_p.L424_splice|SLC7A6_uc002evv.1_Splice_Site|SLC7A6_uc010cfc.1_Splice_Site	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid						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			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTCTATTTCAGCTGAGCGTGT	0.527													A	68330529	G	A	68330529	5	1	160	1	0	0	0	0	0	0	1	0	14701	985	34	2	1299	2	SLC7A6	16	68330529	Splice_Site	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	304430	68330529	22024224	892	87778											
NFAT5	10725	broad.mit.edu	37	chr16	69660331	69660331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctatgatcttctcccaaaGgagttacagttacctccatc	6	12	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:69660331G>T	uc002exm.1	+	2	1307	c.99G>T	c.(97-99)AAG>AAT	p.K33N	NFAT5_uc002exh.1_Translation_Start_Site|NFAT5_uc002exi.2_Translation_Start_Site|NFAT5_uc002exj.1_Translation_Start_Site|NFAT5_uc002exk.1_Translation_Start_Site|NFAT5_uc002exl.1_Missense_Mutation_p.K51N|NFAT5_uc002exn.1_Missense_Mutation_p.K51N	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	33					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCTCCCAAAGGAGTTACAGT	0.443													T	69660331	G	T	69660331	3	4	160	1	0	0	0	0	1	0	0	0	10360	991	35	5	163	5	NFAT5	16	69660331	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1329802	69660331	20694422	893	87779											
NFAT5	10725	broad.mit.edu	37	chr16	69727103	69727103	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtcagacttctacaacCtcctctgaacaaatgcagcc	5	15	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:69727103C>A	uc002exm.1	+	12	4529	c.3321C>A	c.(3319-3321)ACC>ACA	p.T1107T	NFAT5_uc002exi.2_Silent_p.T1031T|NFAT5_uc002exj.1_Silent_p.T1031T|NFAT5_uc002exk.1_Silent_p.T1031T|NFAT5_uc002exl.1_Silent_p.T1125T|NFAT5_uc002exn.1_Silent_p.T1124T|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1107					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTCTACAACCTCCTCTGAAC	0.443													A	69727103	C	A	69727103	2	1	160	1	0	0	0	0	0	0	0	1	10360	668	24	5		5	NFAT5	16	69727103	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	66772	69727103	20627650	894	87780											
NFAT5	10725	broad.mit.edu	37	chr16	69727684	69727684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatccaatggctaatcAggagcaacagaaccagtcaa	7	10	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:69727684A>G	uc002exm.1	+	12	5110	c.3902A>G	c.(3901-3903)CAG>CGG	p.Q1301R	NFAT5_uc002exi.2_Missense_Mutation_p.Q1225R|NFAT5_uc002exj.1_Missense_Mutation_p.Q1225R|NFAT5_uc002exk.1_Missense_Mutation_p.Q1225R|NFAT5_uc002exl.1_Missense_Mutation_p.Q1319R|NFAT5_uc002exn.1_Missense_Mutation_p.Q1318R|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1301					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						ATGGCTAATCAGGAGCAACAG	0.413													G	69727684	A	G	69727684	3	3	160	1	0	0	0	0	1	0	0	0	10360	188	7	3	4006	3	NFAT5	16	69727684	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	581	69727684	20627069	895	87781											
AARS	16	broad.mit.edu	37	chr16	70305734	70305734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccagcacattagggtcGtcctggttgacaagatgtgc	11	10	1	2	rs147424208	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:70305734G>A	uc002eyn.1	-	5	731	c.621C>T	c.(619-621)GAC>GAT	p.D207D	AARS_uc010vlu.1_Silent_p.D37D	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	207					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CATTAGGGTCGTCCTGGTTGA	0.557													A	70305734	G	A	70305734	2	1	160	1	0	0	0	0	0	0	0	1	19	1136	40	1		1	AARS	16	70305734	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	578050	70305734	20049019	896	87782											
ZFHX3	463	broad.mit.edu	37	chr16	72822269	72822269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggaactggcttgtgagCaatgctgtggggtccgaagt	17	6	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:72822269C>T	uc002fck.2	-	10	10579	c.9906G>A	c.(9904-9906)TTG>TTA	p.L3302L	ZFHX3_uc002fcl.2_Silent_p.L2388L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3302					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCTTGTGAGCAATGCTGTGG	0.597													T	72822269	C	T	72822269	2	4	160	1	0	0	0	0	0	0	0	1	17631	709	25	2		2	ZFHX3	16	72822269	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2516535	72822269	17532484	897	87783											
ZFHX3	463	broad.mit.edu	37	chr16	72992505	72992505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgctactacctgctgCggccccaggctcctcatggg	11	15	1	0	rs150708008		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:72992505C>T	uc002fck.2	-	2	2213	c.1540G>A	c.(1540-1542)GCA>ACA	p.A514T	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	514					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTACCTGCTGCGGCCCCAGGC	0.473													T	72992505	C	T	72992505	3	4	160	1	0	0	0	0	1	0	0	0	17631	768	27	1	9607	1	ZFHX3	16	72992505	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	170236	72992505	17362248	898	87784											
WDR59	79726	broad.mit.edu	37	chr16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-													tggtggcaaggcagttagcaTtttttttattccatttgacc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:74976690_74976690AT>A	uc002fdh.1	-	6	582	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAGTTAGCATTTTTTTTAT	0.498													-	74976691	T	-	74976691	7	5	160	1	0	1	0	1	0	0	0	0	17305	1493	52	0	2525	0	WDR59	16	74976691	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	1984186	74976691	15378062	899	87785											
BCAR1	9564	broad.mit.edu	37	chr16	75263732	75263732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacggcggtaaagaaggCgtccacggcgttggtcagtg	17	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:75263732C>T	uc002fdv.2	-	7	2413	c.2290G>A	c.(2290-2292)GCC>ACC	p.A764T	BCAR1_uc002fdt.2_Missense_Mutation_p.A217T|BCAR1_uc002fdu.2_Missense_Mutation_p.A554T|BCAR1_uc010cgu.2_Missense_Mutation_p.A753T|BCAR1_uc010vna.1_Missense_Mutation_p.A762T|BCAR1_uc010vnb.1_Missense_Mutation_p.A810T|BCAR1_uc002fdw.2_Missense_Mutation_p.A764T|BCAR1_uc010vnc.1_Missense_Mutation_p.A616T|BCAR1_uc010vnd.1_Missense_Mutation_p.A782T|BCAR1_uc002fdx.2_Missense_Mutation_p.A782T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	764	Divergent helix-loop-helix motif.				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			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTAAAGAAGGCGTCCACGGCG	0.642													T	75263732	C	T	75263732	3	4	160	1	0	0	0	0	1	0	0	0	1348	768	27	1	326	1	BCAR1	16	75263732	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	287041	75263732	15091021	900	87786											
ADAMTS18	170692	broad.mit.edu	37	chr16	77465453	77465453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgttgtgcaaaatgtcGtgtgaaatatatgacccggc	11	9	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:77465453G>A	uc002ffc.3	-	3	653	c.234C>T	c.(232-234)CAC>CAT	p.H78H	ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCAAAATGTCGTGTGAAATAT	0.488													A	77465453	G	A	77465453	2	1	160	1	0	0	0	0	0	0	0	1	263	1136	40	1		1	ADAMTS18	16	77465453	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2201721	77465453	12889300	901	87787											
CMIP	80790	broad.mit.edu	37	chr16	81730231	81730231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagctctacagccccggaGgggtggcctgcgacgatgac	14	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:81730231G>T	uc002fgp.2	+	14	1669	c.1597G>T	c.(1597-1599)GGG>TGG	p.G533W	CMIP_uc002fgq.1_Missense_Mutation_p.G439W|CMIP_uc010vnq.1_Missense_Mutation_p.G346W|CMIP_uc002fgr.1_Missense_Mutation_p.G380W|CMIP_uc010vnr.1_Missense_Mutation_p.G99W	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	499						cytoplasm|nucleus					0						CAGCCCCGGAGGGGTGGCCTG	0.647													T	81730231	G	T	81730231	3	4	160	1	0	0	0	0	1	0	0	0	3578	1000	35	5	1673	5	CMIP	16	81730231	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4264778	81730231	8624522	902	87788											
HSD17B2	3294	broad.mit.edu	37	chr16	82104706	82104706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttagaaaatccaaagggaGgctggtgaatgtcagcagca	12	7	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:82104706G>T	uc002fgv.2	+	3	810	c.638G>T	c.(637-639)AGG>ATG	p.R213M		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	213					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			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	TCCAAAGGGAGGCTGGTGAAT	0.478													T	82104706	G	T	82104706	3	4	160	1	0	0	0	0	1	0	0	0	7384	1000	35	5	648	5	HSD17B2	16	82104706	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	374475	82104706	8250047	903	87789											
ZDHHC7	55625	broad.mit.edu	37	chr16	85009967	85009967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacactgagaactccggGccaccttttctgggtctcgt	9	15	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:85009967G>A	uc002fiq.2	-	8	1262	c.909C>T	c.(907-909)GGC>GGT	p.G303G	ZDHHC7_uc010voi.1_Silent_p.G340G|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	303						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						AGAACTCCGGGCCACCTTTTC	0.532													A	85009967	G	A	85009967	2	1	160	1	0	0	0	0	0	0	0	1	17617	1190	42	2		2	ZDHHC7	16	85009967	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2905261	85009967	5344786	904	87790											
ZCCHC14	23174	broad.mit.edu	37	chr16	87493704	87493704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctccaaactattactgaCactgctgacaggggcctcag	8	12	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:87493704C>T	uc002fjz.1	-	2	220	c.193G>A	c.(193-195)GTC>ATC	p.V65I	ZCCHC14_uc002fka.1_RNA	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	65					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CTATTACTGACACTGCTGACA	0.478													T	87493704	C	T	87493704	3	4	160	1	0	0	0	0	1	0	0	0	17580	478	17	4	2704	4	ZCCHC14	16	87493704	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2483737	87493704	2861049	905	87791											
ZNF778	197320	broad.mit.edu	37	chr16	89293323	89293323	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaaagccttcagctcTactccaaatgttgtttccca	7	11	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:89293323T>C	uc002fmv.2	+	6	882	c.543T>C	c.(541-543)TCT>TCC	p.S181S	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.S139S|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTTCAGCTCTACTCCAAATG	0.448													C	89293323	T	C	89293323	2	2	160	1	0	0	0	0	0	0	0	1	18148	1509	53	3		3	ZNF778	16	89293323	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1799619	89293323	1061430	906	87792											
SCARF1	8578	broad.mit.edu	37	chr17	1538704	1538704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagagcctcttgggctttCggagcgggctggagagctcc	18	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:1538704C>T	uc002fsz.1	-	11	1891	c.1841G>A	c.(1840-1842)CGA>CAA	p.R614Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	614	Pro/Ser-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGGCTTTCGGAGCGGGCT	0.662													T	1538704	C	T	1538704	3	4	160	1	0	0	0	0	1	0	0	0	13883	884	31	1	655	1	SCARF1	17	1538704	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		1538704	79656506	907	87793											
RTN4RL1	146760	broad.mit.edu	37	chr17	1841018	1841018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaccgtcatgggcgccGggtagcacacacagtcccgt	13	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:1841018G>A	uc002ftp.2	-	2	117	c.98C>T	c.(97-99)CCG>CTG	p.P33L		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	33	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity				0						CATGGGCGCCGGGTAGCACAC	0.657													A	1841018	G	A	1841018	3	1	160	1	0	0	0	0	1	0	0	0	13731	1116	39	1	1231	1	RTN4RL1	17	1841018	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	302314	1841018	79354192	908	87794											
SMG6	23293	broad.mit.edu	37	chr17	2186096	2186096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagacttctttcctttccGccactggtcagggctcaggt	10	12	3	1	rs149940409		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:2186096G>A	uc002fub.1	-	8	2561	c.2506C>T	c.(2506-2508)CGG>TGG	p.R836W		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	836					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			central_nervous_system(2)|lung(1)|kidney(1)	4						TTTCCTTTCCGCCACTGGTCA	0.448													A	2186096	G	A	2186096	3	1	160	1	0	0	0	0	1	0	0	0	14797	1086	38	1	1801	1	SMG6	17	2186096	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	345078	2186096	79009114	909	87795											
OR1E2	8388	broad.mit.edu	37	chr17	3336588	3336588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcacagaaaaagtgggggAtcacattgtctgcacaaaaa	9	7	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:3336588A>G	uc010vre.1	-	1	548	c.548T>C	c.(547-549)ATC>ACC	p.I183T		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	183	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						AAAGTGGGGGATCACATTGTC	0.493													G	3336588	A	G	3336588	3	3	160	1	0	0	0	0	1	0	0	0	10955	333	12	3	426	3	OR1E2	17	3336588	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1150492	3336588	77858622	910	87796											
ANKFY1	51479	broad.mit.edu	37	chr17	4145690	4145690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcttcttctgcagctTgacatactcctgccgcagaa	8	15	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4145690T>C	uc002fxq.1	-	2	102	c.64A>G	c.(64-66)AAG>GAG	p.K22E	ANKFY1_uc002fxn.2_Missense_Mutation_p.K64E|ANKFY1_uc002fxo.2_Missense_Mutation_p.K22E|ANKFY1_uc002fxp.2_Missense_Mutation_p.K22E|ANKFY1_uc010ckp.2_Silent_p.S2S|ANKFY1_uc002fxr.2_Missense_Mutation_p.K22E|ANKFY1_uc010vrz.1_Missense_Mutation_p.K22E	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	22						endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TTCTGCAGCTTGACATACTCC	0.557													C	4145690	T	C	4145690	3	2	160	1	0	0	0	0	1	0	0	0	626	1821	63	3	3636	3	ANKFY1	17	4145690	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	809102	4145690	77049520	911	87797											
ALOX15	246	broad.mit.edu	37	chr17	4539052	4539052	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggggataaggagttAccttgaagataggatgtatc	14	3	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4539052A>G	uc002fyh.2	-	8	1175	c.1161_splice	c.e8+1	p.K387_splice	ALOX15_uc010vsd.1_Splice_Site_p.K348_splice|ALOX15_uc010vse.1_Splice_Site_p.K409_splice	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase						inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ATAAGGAGTTACCTTGAAGAT	0.562													G	4539052	A	G	4539052	5	3	160	1	0	0	0	0	0	0	1	0	538	405	14	3	853	3	ALOX15	17	4539052	Splice_Site	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	393362	4539052	76656158	912	87798											
PSMB6	5694	broad.mit.edu	37	chr17	4700797	4700797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgaccgcattttctgctgtCgctcaggctcagctgctgat	10	13	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4700797C>T	uc002fzb.2	+	3	268	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	79					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			ovary(2)	2						TTTCTGCTGTCGCTCAGGCTC	0.557													T	4700797	C	T	4700797	3	4	160	1	0	0	0	0	1	0	0	0	12681	884	31	1	245	1	PSMB6	17	4700797	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	161745	4700797	76494413	913	87799											
CAMTA2	23125	broad.mit.edu	37	chr17	4883429	4883429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggggaagtctgggctTactccctgcccccctccata	10	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4883429T>C	uc002gah.1	-	9	1296	c.1188A>G	c.(1186-1188)GTA>GTG	p.V396V	CAMTA2_uc010cku.1_Silent_p.V419V|CAMTA2_uc002gag.1_Silent_p.V395V|CAMTA2_uc002gai.1_Silent_p.V398V|CAMTA2_uc010ckv.1_Silent_p.V43V|CAMTA2_uc010vsu.1_Silent_p.V209V	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	396					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						AGTCTGGGCTTACTCCCTGCC	0.657													C	4883429	T	C	4883429	2	2	160	1	0	0	0	0	0	0	0	1	2614	1741	61	3		3	CAMTA2	17	4883429	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	182632	4883429	76311781	914	87800											
PITPNM3	83394	broad.mit.edu	37	chr17	6376136	6376136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctggctgcaggcaggacGcacctggaagcctggggtga	17	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:6376136G>A	uc002gdd.3	-	11	1421	c.1270C>T	c.(1270-1272)CGT>TGT	p.R424C	PITPNM3_uc010cln.2_Missense_Mutation_p.R388C|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Missense_Mutation_p.R15C	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	424	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAGGCAGGACGCACCTGGAAG	0.632											OREG0024122	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6376136	G	A	6376136	3	1	160	1	0	0	0	0	1	0	0	0	11952	1087	38	1	1694	1	PITPNM3	17	6376136	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1492707	6376136	74819074	915	87801											
SLC13A5	284111	broad.mit.edu	37	chr17	6606371	6606371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctggccgcgtagcagaTgcacagggtcatggccttac	14	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:6606371T>C	uc002gdj.2	-	5	722	c.634A>G	c.(634-636)ATC>GTC	p.I212V	SLC13A5_uc010vtf.1_Missense_Mutation_p.I212V|SLC13A5_uc010clq.2_Missense_Mutation_p.I169V|SLC13A5_uc002gdk.2_Missense_Mutation_p.I195V|SLC13A5_uc002gdl.1_Missense_Mutation_p.I194V	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	212						integral to membrane	citrate transmembrane transporter activity				0						GCGTAGCAGATGCACAGGGTC	0.622													C	6606371	T	C	6606371	3	2	160	1	0	0	0	0	1	0	0	0	14395	1464	51	3	1104	3	SLC13A5	17	6606371	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	230235	6606371	74588839	916	87802											
ACAP1	9744	broad.mit.edu	37	chr17	7250431	7250431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggagcctgggggagtcGggcacgtggtggcccaggtc	21	9	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:7250431G>A	uc002ggd.2	+	14	1419	c.1213G>A	c.(1213-1215)GGG>AGG	p.G405R		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	405	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						TGGGGGAGTCGGGCACGTGGT	0.677													A	7250431	G	A	7250431	3	1	160	1	0	0	0	0	1	0	0	0	118	1116	39	1	1267	1	ACAP1	17	7250431	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	644060	7250431	73944779	917	87803											
WRAP53	55135	broad.mit.edu	37	chr17	7606715	7606715	+	Frame_Shift_Del	DEL	G	G	-													ggcttcagctctggtggtgtGggggggcgccagactccagc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:7606714_7606714TG>T	uc010vuh.2	+	10	1712	c.1557_1557TG>T	c.(1555-1557)tgtfs	p.C519fs	WRAP53_uc010vui.2_Frame_Shift_Del_p.C519fs|WRAP53_uc002gip.3_Frame_Shift_Del_p.C519fs|WRAP53_uc002gir.3_Frame_Shift_Del_p.C519fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Del_p.C486fs|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	519					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGC	0.602													-	7606715	G	-	7606715	7	5	160	1	0	1	0	1	0	0	0	0	17397	1348	47	0	1596	0	WRAP53	17	7606715	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	356284	7606715	73588495	918	87804											
PFAS	5198	broad.mit.edu	37	chr17	8170707	8170707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtcccagcccccgaGtcgccatcttgcgagaggag	14	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:8170707G>C	uc002gkr.2	+	25	3334	c.3193G>C	c.(3193-3195)GTC>CTC	p.V1065L	PFAS_uc010vuv.1_Missense_Mutation_p.V641L|PFAS_uc002gks.2_Missense_Mutation_p.V144L	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1065	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCCCCCGAGTCGCCATCTT	0.617													C	8170707	G	C	8170707	3	2	160	1	0	0	0	0	1	0	0	0	11754	1029	36	5	3287	5	PFAS	17	8170707	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	563992	8170707	73024503	919	87805											
ARHGEF15	22899	broad.mit.edu	37	chr17	8224225	8224225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaagtcacaggggaacacGaaaggaggaggcaccttcgc	15	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:8224225G>A	uc002glc.2	+	16	2561	c.2440G>A	c.(2440-2442)GAA>AAA	p.E814K	ARHGEF15_uc002gld.2_Missense_Mutation_p.E814K|ARHGEF15_uc010vuw.1_Missense_Mutation_p.E703K	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	814					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						AGGGGAACACGAAAGGAGGAG	0.612													A	8224225	G	A	8224225	3	1	160	1	0	0	0	0	1	0	0	0	898	1059	37	1	2498	1	ARHGEF15	17	8224225	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	53518	8224225	72970985	920	87806											
NTN1	9423	broad.mit.edu	37	chr17	9066226	9066226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtctgcctcaactgtcGccacaacaccgccggccgcc	10	18	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:9066226G>A	uc002glw.3	+	3	1222	c.1115G>A	c.(1114-1116)CGC>CAC	p.R372H		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	372	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding				0						CTCAACTGTCGCCACAACACC	0.627													A	9066226	G	A	9066226	3	1	160	1	0	0	0	0	1	0	0	0	10700	1087	38	1	1121	1	NTN1	17	9066226	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	842001	9066226	72128984	921	87807											
DNAH9	1770	broad.mit.edu	37	chr17	11556249	11556249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctttctctggatgatcGgcatgatcgaatggaaaaat	9	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:11556249G>A	uc002gne.2	+	14	2593	c.2525G>A	c.(2524-2526)CGG>CAG	p.R842Q	DNAH9_uc010coo.2_Missense_Mutation_p.R136Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	842	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		CTGGATGATCGGCATGATCGA	0.418													A	11556249	G	A	11556249	3	1	160	1	0	0	0	0	1	0	0	0	4608	1116	39	1	2579	1	DNAH9	17	11556249	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2490023	11556249	69638961	922	87808											
RAI1	10743	broad.mit.edu	37	chr17	17696894	17696894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtacccactttcctcAgcattcccagtccttcccca	5	19	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:17696894A>G	uc002grm.2	+	3	1101	c.632A>G	c.(631-633)CAG>CGG	p.Q211R	RAI1_uc002grn.1_Missense_Mutation_p.Q211R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	211	Gln-rich.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CACTTTCCTCAGCATTCCCAG	0.632													G	17696894	A	G	17696894	3	3	160	1	0	0	0	0	1	0	0	0	13007	188	7	3	634	3	RAI1	17	17696894	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	6140645	17696894	63498316	923	87809											
TOP3A	7156	broad.mit.edu	37	chr17	18188830	18188830	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctccgcatgagtggcatcCgtacctggaagccacttgct	11	13	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:18188830C>A	uc002gsx.1	-	14	1831	c.1602G>T	c.(1600-1602)ACG>ACT	p.T534T	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Silent_p.T64T|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.T432T	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	534					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GAGTGGCATCCGTACCTGGAA	0.607													A	18188830	C	A	18188830	2	1	160	1	0	0	0	0	0	0	0	1	16364	639	23	5		5	TOP3A	17	18188830	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	491936	18188830	63006380	924	87810											
MAPK7	5598	broad.mit.edu	37	chr17	19284070	19284070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcatccaccgtgaccTgaagccctccaacctattgg	8	15	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:19284070T>C	uc002gvn.2	+	4	934	c.548T>C	c.(547-549)CTG>CCG	p.L183P	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.L44P|MAPK7_uc002gvq.2_Missense_Mutation_p.L183P|MAPK7_uc002gvp.2_Missense_Mutation_p.L183P	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	183	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			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CACCGTGACCTGAAGCCCTCC	0.562													C	19284070	T	C	19284070	3	2	160	1	0	0	0	0	1	0	0	0	9282	1580	55	3	558	3	MAPK7	17	19284070	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1095240	19284070	61911140	925	87811											
SLC47A2	146802	broad.mit.edu	37	chr17	19582127	19582127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtaggagctgaaagggCgtgggcctcctctggagtcc	17	10	1	1	rs113234335		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:19582127C>T	uc002gwe.3	-	17	1856	c.1681G>A	c.(1681-1683)GCC>ACC	p.A561T	SLC47A2_uc002gwg.3_Missense_Mutation_p.A525T|SLC47A2_uc002gwf.3_Missense_Mutation_p.A539T|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	561	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCTGAAAGGGCGTGGGCCTCC	0.597													T	19582127	C	T	19582127	3	4	160	1	0	0	0	0	1	0	0	0	14648	768	27	1	131	1	SLC47A2	17	19582127	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	298057	19582127	61613083	926	87812											
TMEM11	8834	broad.mit.edu	37	chr17	21101950	21101950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaagaggcaggcggtgCccgccagcacggccgtcttg	18	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:21101950C>T	uc002gyp.2	-	2	709	c.266G>A	c.(265-267)GGC>GAC	p.G89D	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	89	Helical; (Potential).				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						GCAGGCGGTGCCCGCCAGCAC	0.612													T	21101950	C	T	21101950	3	4	160	1	0	0	0	0	1	0	0	0	16023	739	26	2	316	2	TMEM11	17	21101950	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1519823	21101950	60093260	927	87813											
KCNJ12	3768	broad.mit.edu	37	chr17	21319207	21319207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccatcatggccaagatgGcaaggcccaagaagcgggca	14	11	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:21319207G>A	uc002gyv.1	+	3	1258	c.553G>A	c.(553-555)GCA>ACA	p.A185T		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	185	Cytoplasmic (By similarity).			A -> V (in Ref. 2; AAC50615).	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GGCCAAGATGGCAAGGCCCAA	0.622										Prostate(3;0.18)			A	21319207	G	A	21319207	3	1	160	1	0	0	0	0	1	0	0	0	8046	1203	42	2	555	2	KCNJ12	17	21319207	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	217257	21319207	59876003	928	87814											
SEZ6	124925	broad.mit.edu	37	chr17	27296914	27296914	+	Frame_Shift_Del	DEL	C	C	-													gccaggggcagtgggtcaggCccccccaggccttccacagt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:27296913_27296913GC>G	uc002hdp.2	-	3	1110	c.916_916GC>C	c.(916-918)cctfs	p.P306fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Del_p.P306fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.P181fs|SEZ6_uc010crz.1_Frame_Shift_Del_p.P306fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	306						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)			AGTGGGTCAGGCCCCCCCAGG	0.617													-	27296914	C	-	27296914	7	5	160	1	0	1	0	1	0	0	0	0	14142	726	26	0	2138	0	SEZ6	17	27296914	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	5977707	27296914	53898296	929	87815											
CCL1	6346	broad.mit.edu	37	chr17	32688803	32688803	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgagcaggtgatcacttaCattaagccctcattggagca	9	9	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:32688803C>T	uc002hid.1	-	2	260	c.188_splice	c.e2+1	p.I63_splice		NM_002981	NP_002972	P22362	CCL1_HUMAN	small inducible cytokine A1 precursor						cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				0		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		TGATCACTTACATTAAGCCCT	0.463											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	32688803	C	T	32688803	5	4	160	1	0	0	0	0	0	0	1	0	2882	492	17	4	109	4	CCL1	17	32688803	Splice_Site	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5391889	32688803	48506407	930	87816											
SLFN12	55106	broad.mit.edu	37	chr17	33749957	33749957	+	Frame_Shift_Del	DEL	T	T	-													tctcagtttacaatccttcaTttttttcctactgttctctc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:33749956_33749956AT>A	uc002hji.4	-	1	469	c.92_92AT>T	c.(91-93)atgfs	p.M31fs	SLFN12_uc002hjj.4_Frame_Shift_Del_p.M31fs|SLFN12_uc010cts.3_Frame_Shift_Del_p.M31fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	31							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAATCCTTCATTTTTTTCCT	0.423													-	33749957	T	-	33749957	7	5	160	1	0	1	0	1	0	0	0	0	14734	1493	52	0	1657	0	SLFN12	17	33749957	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	1061154	33749957	47445253	931	87817											
GPR179	440435	broad.mit.edu	37	chr17	36499065	36499065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggctccctaggtcattgGtcaacactcgcttcttcagg	10	13	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:36499065G>A	uc002hpz.2	-	1	629	c.608C>T	c.(607-609)ACC>ATC	p.T203I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	203	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGGTCATTGGTCAACACTCG	0.617													A	36499065	G	A	36499065	3	1	160	1	0	0	0	0	1	0	0	0	6674	1261	44	4	6539	4	GPR179	17	36499065	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2749108	36499065	44696145	932	87818											
IKZF3	22806	broad.mit.edu	37	chr17	37922216	37922216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgcggcagtggtcacaccGatacacatccatcacctccc	8	17	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:37922216G>A	uc002hsu.2	-	8	1419	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	IKZF3_uc002htd.2_Missense_Mutation_p.R419W|IKZF3_uc010cwd.2_Missense_Mutation_p.R310W|IKZF3_uc002hsv.2_Missense_Mutation_p.R380W|IKZF3_uc010cwe.2_Missense_Mutation_p.R319W|IKZF3_uc010cwf.2_Missense_Mutation_p.R271W|IKZF3_uc010cwg.2_Missense_Mutation_p.R232W|IKZF3_uc002hsw.2_Missense_Mutation_p.R414W|IKZF3_uc002hsx.2_Missense_Mutation_p.R397W|IKZF3_uc002hsy.2_Missense_Mutation_p.R414W|IKZF3_uc002hsz.2_Missense_Mutation_p.R358W|IKZF3_uc002hta.2_Missense_Mutation_p.R375W|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R366W|IKZF3_uc002htc.2_Missense_Mutation_p.R206W|IKZF3_uc010wel.1_Missense_Mutation_p.R206W	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	453	C2H2-type 5.				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			lung(2)|kidney(2)|skin(2)	6	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)			TGGTCACACCGATACACATCC	0.562													A	37922216	G	A	37922216	3	1	160	1	0	0	0	0	1	0	0	0	7616	1057	37	1	176	1	IKZF3	17	37922216	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1423151	37922216	43272994	933	87819											
TNS4	84951	broad.mit.edu	37	chr17	38641181	38641181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttccttttaccttgctctCgggtgatgtttggcttaaac	9	10	1	1	rs143122913		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:38641181C>T	uc010cxb.2	-	5	1531	c.1367G>A	c.(1366-1368)CGA>CAA	p.R456Q		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	456	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCTTGCTCTCGGGTGATGTT	0.522													T	38641181	C	T	38641181	3	4	160	1	0	0	0	0	1	0	0	0	16342	884	31	1	816	1	TNS4	17	38641181	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	718965	38641181	42554029	934	87820											
KRT25	147183	broad.mit.edu	37	chr17	38910657	38910657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgagtctgaaatcatcagCtgtaagcctggcattatcga	9	9	3	2	rs142825612	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:38910657C>A	uc002hve.2	-	2	554	c.493G>T	c.(493-495)GCT>TCT	p.A165S		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	165	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				AAATCATCAGCTGTAAGCCTG	0.388													A	38910657	C	A	38910657	3	1	160	1	0	0	0	0	1	0	0	0	8462	797	28	5	887	5	KRT25	17	38910657	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	269476	38910657	42284553	935	87821											
KRT27	342574	broad.mit.edu	37	chr17	38936051	38936051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccgtgaggtctaccccGggggccgcgttcatctccac	12	15	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:38936051G>A	uc002hvg.2	-	4	788	c.747C>T	c.(745-747)CCC>CCT	p.P249P		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	249	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				GGTCTACCCCGGGGGCCGCGT	0.537													A	38936051	G	A	38936051	2	1	160	1	0	0	0	0	0	0	0	1	8464	1103	39	1		1	KRT27	17	38936051	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	25394	38936051	42259159	936	87822											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305733	39305733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacacagcagctggggcagCagcaggtggtcctgcagcag	15	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:39305733C>T	uc002hwb.2	-	1	322	c.287G>A	c.(286-288)TGC>TAC	p.C96Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	101	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|17.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gctggggcagcagcaggtggt	0.124													T	39305733	C	T	39305733	3	4	160	1	0	0	0	0	1	0	0	0	8554	710	25	2	262	2	KRTAP4-5	17	39305733	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	369682	39305733	41889477	937	87823											
DHX58	79132	broad.mit.edu	37	chr17	40255749	40255749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccactgggaactgctgcCgctggttctcccgctgggct	13	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40255749C>A	uc002hyw.3	-	12	1854	c.1631G>T	c.(1630-1632)CGG>CTG	p.R544L	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.R537L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	544	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAACTGCTGCCGCTGGTTCTC	0.667													A	40255749	C	A	40255749	3	1	160	1	0	0	0	0	1	0	0	0	4514	652	23	5	417	5	DHX58	17	40255749	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	950016	40255749	40939461	938	87824											
KAT2A	2648	broad.mit.edu	37	chr17	40271369	40271369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaacggtgaaaatggaccGgagaaggcttcgcccaaaga	14	8	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40271369G>A	uc002hyx.2	-	6	1027	c.967C>T	c.(967-969)CGG>TGG	p.R323W		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	323					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			upper_aerodigestive_tract(1)|lung(1)	2						AAAATGGACCGGAGAAGGCTT	0.572													A	40271369	G	A	40271369	3	1	160	1	0	0	0	0	1	0	0	0	7981	1115	39	1	1598	1	KAT2A	17	40271369	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	15620	40271369	40923841	939	87825											
NAGLU	4669	broad.mit.edu	37	chr17	40695344	40695344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaactccaccatggtaggCacgggcatggcccccgaggg	13	16	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40695344C>T	uc002hzv.2	+	6	1660	c.1320C>T	c.(1318-1320)GGC>GGT	p.G440G		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	440						lysosome	alpha-N-acetylglucosaminidase activity				0		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)	CCATGGTAGGCACGGGCATGG	0.602													T	40695344	C	T	40695344	2	4	160	1	0	0	0	0	0	0	0	1	10143	697	25	2		2	NAGLU	17	40695344	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	423975	40695344	40499866	940	87826											
PSMC3IP	29893	broad.mit.edu	37	chr17	40725006	40725006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggtctgggagtgtgaCgttgtaatcttcatccgtct	13	8	5	1	rs149230650		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40725006C>T	uc002iai.2	-	8	677	c.634G>A	c.(634-636)GTC>ATC	p.V212I	MLX_uc002iaf.2_3'UTR|MLX_uc002iag.2_3'UTR|MLX_uc002iah.2_3'UTR|PSMC3IP_uc002iaj.2_Missense_Mutation_p.V149I|PSMC3IP_uc002iak.2_Missense_Mutation_p.V200I|PSMC3IP_uc010wgn.1_Missense_Mutation_p.V133I|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	212					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GGGAGTGTGACGTTGTAATCT	0.522													T	40725006	C	T	40725006	3	4	160	1	0	0	0	0	1	0	0	0	12688	536	19	1	23	1	PSMC3IP	17	40725006	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	29662	40725006	40470204	941	87827											
EZH1	2145	broad.mit.edu	37	chr17	40874914	40874914	+	Frame_Shift_Del	DEL	A	A	-													ccatgtagggaatattgcacAaaaccgtctcatcttctacc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40874913_40874913CA>C	uc010wgu.2	-	4	441	c.405_405TG>G	c.(403-405)ttgfs	p.L135fs	EZH1_uc002iaz.3_Frame_Shift_Del_p.L129fs|EZH1_uc002iba.3_Frame_Shift_Del_p.L120fs|EZH1_uc010wgt.2_Frame_Shift_Del_p.L59fs|EZH1_uc010wgv.2_Frame_Shift_Del_p.L89fs|EZH1_uc010wgw.2_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Frame_Shift_Del_p.L46fs|EZH1_uc010cys.2_Frame_Shift_Del_p.L80fs|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'Flank	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	129					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GAATATTGCACAAAACCGTCT	0.398													-	40874914	A	-	40874914	7	5	160	1	0	1	0	1	0	0	0	0	5333	131	5	0	1921	0	EZH1	17	40874914	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	149908	40874914	40320296	942	87828											
DHX8	1659	broad.mit.edu	37	chr17	41582101	41582101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcatgcctttgggggcAacaaagcctcttacggaaaa	11	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:41582101A>G	uc002idu.1	+	12	1709	c.1636A>G	c.(1636-1638)AAC>GAC	p.N546D	DHX8_uc010wif.1_Missense_Mutation_p.N455D|DHX8_uc010wig.1_Missense_Mutation_p.N546D	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	546						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTTTGGGGGCAACAAAGCCTC	0.502													G	41582101	A	G	41582101	3	3	160	1	0	0	0	0	1	0	0	0	4515	130	5	3	1682	3	DHX8	17	41582101	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	707187	41582101	39613109	943	87829											
G6PC3	92579	broad.mit.edu	37	chr17	42152386	42152386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattgcaccttccttttgGcggttggcttgtcgcgaatc	10	11	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:42152386G>A	uc002iex.2	+	4	682	c.466G>A	c.(466-468)GCG>ACG	p.A156T	G6PC3_uc002iey.2_Missense_Mutation_p.A31T|G6PC3_uc010czo.2_Missense_Mutation_p.A12T|G6PC3_uc002iez.2_Missense_Mutation_p.A31T|G6PC3_uc002ifb.2_Missense_Mutation_p.A31T|G6PC3_uc002ifc.2_Intron	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN	glucose-6-phosphatase catalytic subunit 3	156	Helical; (Potential).				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			skin(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTCCTTTTGGCGGTTGGCTT	0.552													A	42152386	G	A	42152386	3	1	160	1	0	0	0	0	1	0	0	0	6145	1203	42	2	480	2	G6PC3	17	42152386	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	570285	42152386	39042824	944	87830											
SP2	6668	broad.mit.edu	37	chr17	45993940	45993940	+	Frame_Shift_Del	DEL	C	C	-													caccaaccaagccatcatcaCcccctcaccgtccagtcaca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:45993939_45993939AC>A	uc002imk.3	+	2	639	c.502_502AC>A	c.(502-504)accfs	p.T168fs	SP2_uc002iml.3_Frame_Shift_Del_p.T161fs|BC038442_uc002imm.3_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	168					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						AGCCATCATCACCCCCTCACC	0.582													-	45993940	C	-	45993940	7	5	160	1	0	1	0	1	0	0	0	0	14964	507	18	0	513	0	SP2	17	45993940	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	3841554	45993940	35201270	945	87831											
SP2	6668	broad.mit.edu	37	chr17	45993964	45993964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgtccagtcacaagcCtgtccccatcaagccagccc	6	20	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:45993964C>A	uc002imk.2	+	3	664	c.527C>A	c.(526-528)CCT>CAT	p.P176H	SP2_uc002iml.2_Missense_Mutation_p.P169H|uc002imm.2_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	176					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						AGTCACAAGCCTGTCCCCATC	0.597													A	45993964	C	A	45993964	3	1	160	1	0	0	0	0	1	0	0	0	14964	681	24	5	537	5	SP2	17	45993964	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	24	45993964	35201246	946	87832											
HOXB3	3213	broad.mit.edu	37	chr17	46628308	46628308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcttgatctgccgctcGctgaggttcagcaggttggc	13	11	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:46628308G>A	uc002inn.2	-	2	1084	c.684C>T	c.(682-684)AGC>AGT	p.S228S	HOXB3_uc010wlm.1_Silent_p.S155S|HOXB3_uc010dbf.2_Silent_p.S228S|HOXB3_uc010dbg.2_Silent_p.S228S|HOXB3_uc002ino.2_Silent_p.S228S|HOXB3_uc010wlk.1_Silent_p.S96S|HOXB3_uc010wll.1_Silent_p.S155S	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	228	Homeobox.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCTGCCGCTCGCTGAGGTTCA	0.602													A	46628308	G	A	46628308	2	1	160	1	0	0	0	0	0	0	0	1	7302	1078	38	1		1	HOXB3	17	46628308	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	634344	46628308	34566902	947	87833											
ZNF652	22834	broad.mit.edu	37	chr17	47389292	47389292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcacattccttacctcGcatctaaagggcttctctcc	7	14	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:47389292G>A	uc002iov.3	-	4	1625	c.1161C>T	c.(1159-1161)TGC>TGT	p.C387C	ZNF652_uc002iow.2_Silent_p.C387C|ZNF652_uc002iou.3_RNA	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	387	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCCTTACCTCGCATCTAAAGG	0.512													A	47389292	G	A	47389292	2	1	160	1	0	0	0	0	0	0	0	1	18062	1079	38	1		1	ZNF652	17	47389292	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	760984	47389292	33805918	948	87834											
SPOP	8405	broad.mit.edu	37	chr17	47679303	47679303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgagaatttctgcagCgttctccacggacaggttac	11	10	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:47679303C>T	uc010dbk.2	-	10	1536	c.904G>A	c.(904-906)GCT>ACT	p.A302T	SPOP_uc002ipb.2_Missense_Mutation_p.A302T|SPOP_uc002ipc.2_Missense_Mutation_p.A302T|SPOP_uc002ipd.2_Missense_Mutation_p.A302T|SPOP_uc002ipe.2_Missense_Mutation_p.A302T|SPOP_uc002ipf.2_Missense_Mutation_p.A302T|SPOP_uc002ipg.2_Missense_Mutation_p.A302T	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	302	Homodimerization.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						ATTTCTGCAGCGTTCTCCACG	0.493										Prostate(2;0.17)			T	47679303	C	T	47679303	3	4	160	1	0	0	0	0	1	0	0	0	15083	768	27	1	228	1	SPOP	17	47679303	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	290011	47679303	33515907	949	87835											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	160	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	754664	48433967	32761243	950	87836											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917397	48917397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagaagcagttggaggatCgggagaatgtggtcatgcgg	20	4	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:48917397C>T	uc002isv.3	+	2	1442	c.748C>T	c.(748-750)CGG>TGG	p.R250W	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R157W	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	250	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTTGGAGGATCGGGAGAATGT	0.602													T	48917397	C	T	48917397	3	4	160	1	0	0	0	0	1	0	0	0	17356	875	31	1	754	1	WFIKKN2	17	48917397	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	483430	48917397	32277813	951	87837											
STXBP4	252983	broad.mit.edu	37	chr17	53076712	53076712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtttttgttaggatggtCgtttgaagccaggagatcaa	12	5	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:53076712C>T	uc002iuf.1	+	5	394	c.187C>T	c.(187-189)CGT>TGT	p.R63C	STXBP4_uc010dcc.1_5'UTR|STXBP4_uc010dcd.1_Missense_Mutation_p.R63C	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	63	PDZ.					cytoplasm	calcium ion binding			ovary(1)	1						TTAGGATGGTCGTTTGAAGCC	0.323													T	53076712	C	T	53076712	3	4	160	1	0	0	0	0	1	0	0	0	15354	884	31	1	197	1	STXBP4	17	53076712	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4159315	53076712	28118498	952	87838											
CLTC	1213	broad.mit.edu	37	chr17	57697508	57697508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccatggcccagattctgCcaattcgttttcaggagcat	10	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:57697508C>T	uc002ixq.1	+	1	459	c.16C>T	c.(16-18)CCA>TCA	p.P6S	CLTC_uc002ixp.2_Missense_Mutation_p.P6S|CLTC_uc002ixr.1_Missense_Mutation_p.P6S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	6	Globular terminal domain.				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)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAGATTCTGCCAATTCGTTT	0.453			T	ALK|TFE3	ALCL|renal 								T	57697508	C	T	57697508	3	4	160	1	0	0	0	0	1	0	0	0	3566	739	26	2	18	2	CLTC	17	57697508	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4620796	57697508	23497702	953	87839											
BRIP1	83990	broad.mit.edu	37	chr17	59878681	59878681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcagcatcttgtattAgttctcgggctgtgtaatat	10	6	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:59878681A>G	uc002izk.1	-	8	1214	c.1073T>C	c.(1072-1074)CTA>CCA	p.L358P		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	358	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			ovary(1)	1						ATCTTGTATTAGTTCTCGGGC	0.403			F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	59878681	A	G	59878681	3	3	160	1	0	0	0	0	1	0	0	0	1514	420	15	3	2728	3	BRIP1	17	59878681	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	2181173	59878681	21316529	954	87840											
FTSJ3	117246	broad.mit.edu	37	chr17	61898199	61898199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtttatggcccctttacCggttgaaggagttatctatg	11	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:61898199C>T	uc002jbz.2	-	17	2150	c.2072G>A	c.(2071-2073)CGG>CAG	p.R691Q	FTSJ3_uc002jca.2_Missense_Mutation_p.R691Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	691					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						GCCCCTTTACCGGTTGAAGGA	0.393													T	61898199	C	T	61898199	3	4	160	1	0	0	0	0	1	0	0	0	6089	666	23	1	487	1	FTSJ3	17	61898199	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2019518	61898199	19297011	955	87841											
RGS9	8787	broad.mit.edu	37	chr17	63206652	63206652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgcgctccagcccaagcCctgtcatcctgagacagctg	9	17	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:63206652C>A	uc002jfe.2	+	17	1446	c.1336C>A	c.(1336-1338)CCT>ACT	p.P446T	RGS9_uc010dem.2_Missense_Mutation_p.P443T|RGS9_uc002jfd.2_Missense_Mutation_p.P443T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P217T	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	446					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			ovary(2)|skin(2)	4						CAGCCCAAGCCCTGTCATCCT	0.582													A	63206652	C	A	63206652	3	1	160	1	0	0	0	0	1	0	0	0	13313	623	22	5	1402	5	RGS9	17	63206652	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1308453	63206652	17988558	956	87842											
ABCA10	10349	broad.mit.edu	37	chr17	67178331	67178331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatttgaataagctccGtgaagttaaaaattcccata	5	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:67178331G>A	uc010dfa.1	-	23	3611	c.2732C>T	c.(2731-2733)ACG>ATG	p.T911M	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T512M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	911					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AATAAGCTCCGTGAAGTTAAA	0.294													A	67178331	G	A	67178331	3	1	160	1	0	0	0	0	1	0	0	0	29	1145	40	1	1971	1	ABCA10	17	67178331	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3971679	67178331	14016879	957	87843											
TTYH2	94015	broad.mit.edu	37	chr17	72240133	72240133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggatgctgtgctgtggggCactgagcctgctcctcagtt	14	10	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:72240133C>T	uc002jkc.2	+	6	780	c.749C>T	c.(748-750)GCA>GTA	p.A250V	TTYH2_uc010wqw.1_Missense_Mutation_p.A229V	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	250	Helical; Name=4; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						TGCTGTGGGGCACTGAGCCTG	0.672													T	72240133	C	T	72240133	3	4	160	1	0	0	0	0	1	0	0	0	16737	710	25	2	771	2	TTYH2	17	72240133	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5061802	72240133	8955077	958	87844											
UNK	85451	broad.mit.edu	37	chr17	73819409	73819409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccagtgcggcgggcgccGagtgcgagctggcccgggag	22	12	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:73819409G>A	uc002jpm.2	+	16	2311	c.2311G>A	c.(2311-2313)GAG>AAG	p.E771K		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	695	Potential.						nucleic acid binding|zinc ion binding				0			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)			GGCGGGCGCCGAGTGCGAGCT	0.677													A	73819409	G	A	73819409	3	1	160	1	0	0	0	0	1	0	0	0	16997	1059	37	1	2373	1	UNK	17	73819409	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1579276	73819409	7375801	959	87845											
SEPT9	10801	broad.mit.edu	37	chr17	75484906	75484906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcatcccggacacccgcGtccactgctgcctctacttc	8	19	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:75484906G>A	uc002jts.3	+	7	1348	c.1222G>A	c.(1222-1224)GTC>ATC	p.V408I	SEPT9_uc010wtk.1_Missense_Mutation_p.V389I|SEPT9_uc002jtt.3_Missense_Mutation_p.V244I|SEPT9_uc002jtu.3_Missense_Mutation_p.V390I|SEPT9_uc002jtv.2_Missense_Mutation_p.V401I|SEPT9_uc002jtw.2_Missense_Mutation_p.V244I|SEPT9_uc010wtl.1_Missense_Mutation_p.V184I|SEPT9_uc002jty.3_Missense_Mutation_p.V157I|SEPT9_uc010wtm.1_Missense_Mutation_p.V157I|SEPT9_uc010wtn.1_Missense_Mutation_p.V157I|SEPT9_uc010dhd.2_Missense_Mutation_p.V296I	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	408					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGACACCCGCGTCCACTGCTG	0.612													A	75484906	G	A	75484906	3	1	160	1	0	0	0	0	1	0	0	0	14071	1145	40	1	1722	1	SEPT9	17	75484906	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1665497	75484906	5710304	960	87846											
PGS1	9489	broad.mit.edu	37	chr17	76415691	76415691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcgagcagccgagtcGccaggtgaagctgtgggtga	15	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:76415691G>A	uc002jvm.2	+	9	1628	c.1616G>A	c.(1615-1617)CGC>CAC	p.R539H	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.R252H|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.R252H	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	539					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CAGCCGAGTCGCCAGGTGAAG	0.537													A	76415691	G	A	76415691	3	1	160	1	0	0	0	0	1	0	0	0	11808	1087	38	1	1650	1	PGS1	17	76415691	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	930785	76415691	4779519	961	87847											
TBC1D16	125058	broad.mit.edu	37	chr17	77926499	77926499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtggcccaggtccacgcGgaacacgccgcaaatctgct	11	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:77926499G>A	uc002jxj.2	-	4	1014	c.898C>T	c.(898-900)CGC>TGC	p.R300C	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	300						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGGTCCACGCGGAACACGCCG	0.672													A	77926499	G	A	77926499	3	1	160	1	0	0	0	0	1	0	0	0	15602	1116	39	1	1441	1	TBC1D16	17	77926499	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1510808	77926499	3268711	962	87848											
SLC26A11	284129	broad.mit.edu	37	chr17	78195522	78195522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatggatttcgtcgccGgcctctcagttggcctcact	11	12	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:78195522G>A	uc002jyb.1	+	3	432	c.163G>A	c.(163-165)GGC>AGC	p.G55S	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.G55S|SLC26A11_uc002jyd.1_Missense_Mutation_p.G55S|SLC26A11_uc010dhv.1_Missense_Mutation_p.G55S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	55	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTCGTCGCCGGCCTCTCAGT	0.672													A	78195522	G	A	78195522	3	1	160	1	0	0	0	0	1	0	0	0	14516	1116	39	1	165	1	SLC26A11	17	78195522	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	269023	78195522	2999688	963	87849											
AATK	9625	broad.mit.edu	37	chr17	79094232	79094232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcgtcagactcgtcGctgtcctcactgtcctcctc	7	18	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:79094232G>A	uc010dia.2	-	11	3584	c.3504C>T	c.(3502-3504)AGC>AGT	p.S1168S	AATK_uc010dhz.2_Intron	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1168						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGACTCGTCGCTGTCCTCAC	0.721													A	79094232	G	A	79094232	2	1	160	1	0	0	0	0	0	0	0	1	26	1078	38	1		1	AATK	17	79094232	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	898710	79094232	2100978	964	87850											
ARHGDIA	396	broad.mit.edu	37	chr17	79826767	79826769	+	In_Frame_Del	DEL	CTT	CTT	-													tgggctcagtccttccagtcCttcttgatggtgagattcca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:79826766_79826768CCTT>C	uc021uff.1	-	5	905_907	c.599_601AAGG>G	c.(598-603)aaggac>aGac	p.200_201KD>R	AK293147_uc021ufe.1_5'UTR|ARHGDIA_uc002kbq.3_In_Frame_Del_p.200_201KD>R|ARHGDIA_uc021ufg.1_In_Frame_Del_p.156_157KD>R|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	200					Rho protein signal transduction|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	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			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)			TCCTTCCAGTCCTTCTTGATGGT	0.64													-	79826769	CTT	-	79826767	7	5	160	1	0	1	0	1	0	0	0	0	890	680	24	0	18	0	ARHGDIA	17	79826767	In_Frame_Del	DEL	CTT	TCGA-CD-A4MI-01A-21D-A25D-08	732535	79826767	1368443	965	87851											
NOTUM	147111	broad.mit.edu	37	chr17	79910971	79910971	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccgtgaactggtctcGgacggtggggcatgaggggt	18	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:79910971G>A	uc010wvg.1	-	11	1629	c.1357C>T	c.(1357-1359)CGA>TGA	p.R453*		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	453						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AACTGGTCTCGGACGGTGGGG	0.662													A	79910971	G	A	79910971	4	1	160	1	0	0	0	0	0	1	0	0	10552	1124	39	1	137	1	NOTUM	17	79910971	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	84204	79910971	1284239	966	87852											
HEXDC	284004	broad.mit.edu	37	chr17	80399708	80399708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcagcccctaccaccGccagcggaagctcatccacc	8	19	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:80399708G>A	uc002kew.2	+	11	1247	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	HEXDC_uc002kev.3_Missense_Mutation_p.A429T|HEXDC_uc010diq.2_Silent_p.P401P|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	399					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCTACCACCGCCAGCGGAAG	0.637													A	80399708	G	A	80399708	3	1	160	1	0	0	0	0	1	0	0	0	7075	1087	38	1	1323	1	HEXDC	17	80399708	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	488737	80399708	795502	967	87853											
EPB41L3	23136	broad.mit.edu	37	chr18	5434086	5434086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcagccttccggacaCgatgtcatctcgcaactgca	11	14	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:5434086C>T	uc002kmt.1	-	7	726	c.640G>A	c.(640-642)GTG>ATG	p.V214M	EPB41L3_uc010wzh.1_Missense_Mutation_p.V214M|EPB41L3_uc002kmu.1_Missense_Mutation_p.V214M|EPB41L3_uc010dkq.1_Missense_Mutation_p.V105M|EPB41L3_uc010dks.1_Missense_Mutation_p.V236M|EPB41L3_uc002kmv.1_Missense_Mutation_p.V105M	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	214	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CTTCCGGACACGATGTCATCT	0.542													T	5434086	C	T	5434086	3	4	160	1	0	0	0	0	1	0	0	0	5154	536	19	1	2687	1	EPB41L3	18	5434086	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		5434086	72643162	968	87854											
TMEM200C	645369	broad.mit.edu	37	chr18	5890353	5890353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccggcgagctctgctcCgcacccagaacgggggcggc	14	18	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:5890353C>T	uc002kmx.1	-	1	1751	c.1710G>A	c.(1708-1710)GCG>GCA	p.A570A		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	570						integral to membrane					0						AGCTCTGCTCCGCACCCAGAA	0.647													T	5890353	C	T	5890353	2	4	160	1	0	0	0	0	0	0	0	1	16122	639	23	1		1	TMEM200C	18	5890353	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	456267	5890353	72186895	969	87855											
LAMA1	284217	broad.mit.edu	37	chr18	6942091	6942091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagttcaggactcggtcCcaggacaggaatgaaggaaa	13	7	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:6942091C>T	uc002knm.2	-	63	9309	c.9215G>A	c.(9214-9216)GGG>GAG	p.G3072E	LAMA1_uc002knk.2_Missense_Mutation_p.G402E|LAMA1_uc002knl.2_Missense_Mutation_p.G525E|LAMA1_uc010wzj.1_Missense_Mutation_p.G2548E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	3072					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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACTCGGTCCCAGGACAGGA	0.443													T	6942091	C	T	6942091	3	4	160	1	0	0	0	0	1	0	0	0	8605	623	22	4	16	4	LAMA1	18	6942091	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1051738	6942091	71135157	970	87856											
KIAA0802	23255	broad.mit.edu	37	chr18	8825987	8825987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaattcccgaggaaggtcGcctagccccattggggtggg	14	12	0	0	rs145849851		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:8825987G>A	uc002knr.2	+	15	4621	c.4479G>A	c.(4477-4479)TCG>TCA	p.S1493S	KIAA0802_uc002knq.2_Silent_p.S1452S|KIAA0802_uc002kns.2_Silent_p.S833S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1803											0						GAGGAAGGTCGCCTAGCCCCA	0.657													A	8825987	G	A	8825987	2	1	160	1	0	0	0	0	0	0	0	1	8194	1074	38	1		1	KIAA0802	18	8825987	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1883896	8825987	69251261	971	87857											
MC2R	4158	broad.mit.edu	37	chr18	13885437	13885437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgaaaaatatctcctcCggcaaaaccacacgaggaca	7	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:13885437C>T	uc002ksp.1	-	2	258	c.81G>A	c.(79-81)CCG>CCA	p.P27P		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	27	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATATCTCCTCCGGCAAAACCA	0.418													T	13885437	C	T	13885437	2	4	160	1	0	0	0	0	0	0	0	1	9364	639	23	1		1	MC2R	18	13885437	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5059450	13885437	64191811	972	87858											
CABLES1	91768	broad.mit.edu	37	chr18	20833000	20833000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggagaagtttcctcAcattaagctgacactcagca	7	11	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:20833000A>G	uc002kuc.2	+	8	1523	c.1523A>G	c.(1522-1524)CAC>CGC	p.H508R	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Missense_Mutation_p.H11R|CABLES1_uc002kud.2_Missense_Mutation_p.H243R	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	508					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTTCCTCACATTAAGCTG	0.498													G	20833000	A	G	20833000	3	3	160	1	0	0	0	0	1	0	0	0	2529	159	6	3	1607	3	CABLES1	18	20833000	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	6947563	20833000	57244248	973	87859											
LAMA3	3909	broad.mit.edu	37	chr18	21500978	21500978	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcagagctaccaaaagagaGaggagttggagacgccataa	12	7	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:21500978G>C	uc002kuq.2	+	61	8089	c.8003G>C	c.(8002-8004)AGA>ACA	p.R2668T	LAMA3_uc002kur.2_Missense_Mutation_p.R2612T|LAMA3_uc002kus.3_Missense_Mutation_p.R1059T|LAMA3_uc002kut.3_Missense_Mutation_p.R1003T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2668	Laminin G-like 2.				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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	CCAAAAGAGAGAGGAGTTGGA	0.403													C	21500978	G	C	21500978	3	2	160	1	0	0	0	0	1	0	0	0	8607	942	33	5	8420	5	LAMA3	18	21500978	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	667978	21500978	56576270	974	87860											
DSG3	1830	broad.mit.edu	37	chr18	29040826	29040826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctatcgtctggttgtgagtGgtgcagacaaagatggagaa	15	5	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:29040826G>T	uc002kws.2	+	7	824	c.715G>T	c.(715-717)GGT>TGT	p.G239C		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	239	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTTGTGAGTGGTGCAGACAA	0.338													T	29040826	G	T	29040826	3	4	160	1	0	0	0	0	1	0	0	0	4778	1348	47	5	741	5	DSG3	18	29040826	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	7539848	29040826	49036422	975	87861											
SETBP1	26040	broad.mit.edu	37	chr18	42531485	42531485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctacattggcaagaagcGgggcaggaagccaagagcag	14	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:42531485G>A	uc010dni.2	+	4	2476	c.2180G>A	c.(2179-2181)CGG>CAG	p.R727Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	727						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGCAAGAAGCGGGGCAGGAAG	0.582									Schinzel-Giedion_syndrome				A	42531485	G	A	42531485	3	1	160	1	0	0	0	0	1	0	0	0	14129	1116	39	1	2383	1	SETBP1	18	42531485	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13490659	42531485	35545763	976	87862											
SLC14A1	6563	broad.mit.edu	37	chr18	43319189	43319189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgataatccatggacagGgggcattttcctgggagcca	13	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:43319189G>T	uc010xcn.1	+	8	1044	c.725G>T	c.(724-726)GGG>GTG	p.G242V	SLC14A1_uc010dnk.2_Missense_Mutation_p.G298V|SLC14A1_uc002lbf.3_Missense_Mutation_p.G242V|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.G137V|SLC14A1_uc002lbh.3_Missense_Mutation_p.G134V|SLC14A1_uc002lbi.3_Missense_Mutation_p.G110V|SLC14A1_uc002lbj.3_Missense_Mutation_p.G298V|SLC14A1_uc002lbk.3_Missense_Mutation_p.G242V	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	242						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CCATGGACAGGGGGCATTTTC	0.483													T	43319189	G	T	43319189	3	4	160	1	0	0	0	0	1	0	0	0	14396	1232	43	5	915	5	SLC14A1	18	43319189	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	787704	43319189	34758059	977	87863											
KIAA1632	57724	broad.mit.edu	37	chr18	43464743	43464743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatggtttcaagtacttTtctgcactctgatttaatgc	7	8	3	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:43464743T>C	uc002lbm.2	-	30	5243	c.5143A>G	c.(5143-5145)AAA>GAA	p.K1715E	KIAA1632_uc010xcq.1_Missense_Mutation_p.K269E|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K590E	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1715					autophagy						0						TCAAGTACTTTTCTGCACTCT	0.408													C	43464743	T	C	43464743	3	2	160	1	0	0	0	0	1	0	0	0	8249	1850	64	3	2656	3	KIAA1632	18	43464743	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	145554	43464743	34612505	978	87864											
MBD2	8932	broad.mit.edu	37	chr18	51731402	51731405	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													gaggatcgtttcgcagtctcTgtttgttcttctgtaattta							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:51731401_51731404CTGTT>C	uc002lfg.2	-	1	895_898	c.666_669AACAG>G	c.(664-669)aaacagfs	p.K222fs	MBD2_uc002lfh.2_Frame_Shift_Del_p.K222fs	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	222					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TTCGCAGTCTCTGTTTGTTCTTCT	0.387													-	51731405	TGTT	-	51731402	7	5	160	1	0	1	0	1	0	0	0	0	9343	1580	55	0	798	0	MBD2	18	51731402	Frame_Shift_Del	DEL	TGTT	TCGA-CD-A4MI-01A-21D-A25D-08	8266659	51731402	26345846	979	87865											
WDR7	23335	broad.mit.edu	37	chr18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-													aaaatggacagacatggaccGggggggactttgtctcatca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		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)		AGACATGGACCGGGGGGGACT	0.418													-	54358513	G	-	54358513	7	5	160	1	0	1	0	1	0	0	0	0	17317	1116	39	0	810	0	WDR7	18	54358513	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	2627111	54358513	23718735	980	87866											
MALT1	10892	broad.mit.edu	37	chr18	56363666	56363666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgtgaaactgtgttgcCgggcaactggacatcctttt	11	8	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:56363666C>T	uc002lhm.1	+	3	703	c.445C>T	c.(445-447)CGG>TGG	p.R149W	MALT1_uc002lhn.1_Missense_Mutation_p.R149W	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	149	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						ACTGTGTTGCCGGGCAACTGG	0.308			T	BIRC3	MALT								T	56363666	C	T	56363666	3	4	160	1	0	0	0	0	1	0	0	0	9202	643	23	1	455	1	MALT1	18	56363666	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2005153	56363666	21713582	981	87867											
SALL3	27164	broad.mit.edu	37	chr18	76755286	76755286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgggcccgggcctgGcgcccatgctggccccccca	14	18	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:76755286G>T	uc002lmt.2	+	2	3295	c.3295G>T	c.(3295-3297)GCG>TCG	p.A1099S	SALL3_uc010dra.2_Missense_Mutation_p.A634S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		CCCGGGCCTGGCGCCCATGCT	0.736													T	76755286	G	T	76755286	3	4	160	1	0	0	0	0	1	0	0	0	13812	1203	42	5	3301	5	SALL3	18	76755286	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	20391620	76755286	1321962	982	87868											
CTDP1	9150	broad.mit.edu	37	chr18	77477647	77477647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagcagctcttcccGctcagggacgatcacaccaa	12	13	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:77477647G>A	uc002lnh.1	+	9	2328	c.2181G>A	c.(2179-2181)CCG>CCA	p.P727P	CTDP1_uc002lni.1_Silent_p.P727P|CTDP1_uc010drd.1_Silent_p.P727P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	727	BRCT.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGCTCTTCCCGCTCAGGGACG	0.642													A	77477647	G	A	77477647	2	1	160	1	0	0	0	0	0	0	0	1	4002	1074	38	1		1	CTDP1	18	77477647	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	722361	77477647	599601	983	87869											
PQLC1	80148	broad.mit.edu	37	chr18	77664150	77664150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaggccgtcttgaaggcGtcaccactggtccacatgag	12	11	2	2	rs142557456	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:77664150G>A	uc002lnl.2	-	6	814	c.642C>T	c.(640-642)GAC>GAT	p.D214D	PQLC1_uc010dre.2_Silent_p.D131D|PQLC1_uc002lnk.2_Silent_p.D196D|PQLC1_uc010xfm.1_Missense_Mutation_p.T124M	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	214	PQ-loop 2.					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TCTTGAAGGCGTCACCACTGG	0.652													A	77664150	G	A	77664150	2	1	160	1	0	0	0	0	0	0	0	1	12418	1145	40	1		1	PQLC1	18	77664150	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	186503	77664150	413098	984	87870											
AMH	268	broad.mit.edu	37	chr19	2249675	2249676	+	Frame_Shift_Del	DEL	TA	TA	-													gcaggctgccttgccctctcTacggcggctgggggcctggc							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:2249675_2249676delTA	uc002lvh.2	+	1	563_564	c.344_345delTA	c.(343-345)CTAfs	p.L115fs	hsa-mir-4321|MI0015852_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone precursor	115					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity				0		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)		TTGCCCTCTCTACGGCGGCTGG	0.728									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				-	2249676	TA	-	2249675	7	5	160	1	0	1	0	1	0	0	0	0	572	1522	53	0	346	0	AMH	19	2249675	Frame_Shift_Del	DEL	TA	TCGA-CD-A4MI-01A-21D-A25D-08		2249675	56879308	985	87871											
ZNF555	148254	broad.mit.edu	37	chr19	2853027	2853027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgtggggaggccttcAgttattcttcggcttttcga	12	7	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:2853027A>G	uc002lwo.2	+	4	1053	c.964A>G	c.(964-966)AGT>GGT	p.S322G	ZNF555_uc002lwn.3_Missense_Mutation_p.S321G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	322	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				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)		GGAGGCCTTCAGTTATTCTTC	0.413													G	2853027	A	G	2853027	3	3	160	1	0	0	0	0	1	0	0	0	17983	188	7	3	978	3	ZNF555	19	2853027	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	603352	2853027	56275956	986	87872											
NCLN	56926	broad.mit.edu	37	chr19	3204636	3204636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcggatcaacctggcggaGgacgtgctggcctgggagca	17	10	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:3204636G>T	uc002lxi.2	+	9	1249	c.1095G>T	c.(1093-1095)GAG>GAT	p.E365D	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Missense_Mutation_p.E10D	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	365	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		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)		ACCTGGCGGAGGACGTGCTGG	0.687													T	3204636	G	T	3204636	3	4	160	1	0	0	0	0	1	0	0	0	10227	991	35	5	1129	5	NCLN	19	3204636	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	351609	3204636	55924347	987	87873											
GIPC3	126326	broad.mit.edu	37	chr19	3586647	3586647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggggctgaccatcaCggacaacggggctggctacg	15	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:3586647C>T	uc002lyd.3	+	2	407	c.380C>T	c.(379-381)ACG>ATG	p.T127M		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	127	PDZ.									breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCATCACGGACAACGGG	0.647											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3586647	C	T	3586647	3	4	160	1	0	0	0	0	1	0	0	0	6394	536	19	1	386	1	GIPC3	19	3586647	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	382011	3586647	55542336	988	87874											
TJP3	27134	broad.mit.edu	37	chr19	3747982	3747982	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtggatgatgagccccCggctccagccctggcccggt	15	14	0	2	rs149440570	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:3747982C>G	uc010xhv.1	+	18	2612	c.2612C>G	c.(2611-2613)CCG>CGG	p.P871R	TJP3_uc010xhs.1_Missense_Mutation_p.P838R|TJP3_uc010xht.1_Missense_Mutation_p.P802R|TJP3_uc010xhu.1_Missense_Mutation_p.P847R|TJP3_uc010xhw.1_Missense_Mutation_p.P857R	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	852						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGAGCCCCCGGCTCCAGCC	0.697													G	3747982	C	G	3747982	3	3	160	1	0	0	0	0	1	0	0	0	15928	652	23	5	2682	5	TJP3	19	3747982	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	161335	3747982	55381001	989	87875											
MPND	84954	broad.mit.edu	37	chr19	4345956	4345956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgcaccagctgcacaCgcctgccacggctgctgatg	12	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:4345956C>T	uc002mae.2	+	3	576	c.509C>T	c.(508-510)ACG>ATG	p.T170M	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.T170M|MPND_uc002maf.2_Missense_Mutation_p.T170M|MPND_uc002mah.2_Missense_Mutation_p.T58M|MPND_uc002mai.2_Missense_Mutation_p.T58M	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	170							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGCACACGCCTGCCACG	0.632													T	4345956	C	T	4345956	3	4	160	1	0	0	0	0	1	0	0	0	9731	536	19	1	519	1	MPND	19	4345956	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	597974	4345956	54783027	990	87876											
TICAM1	148022	broad.mit.edu	37	chr19	4816266	4816266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggtcattctgcctcctgCgtcttgtcctcgggcgcctg	12	16	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:4816266C>T	uc002mbi.2	-	2	2375	c.2124G>A	c.(2122-2124)ACG>ACA	p.T708T		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	708	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTGCCTCCTGCGTCTTGTCCT	0.637													T	4816266	C	T	4816266	2	4	160	1	0	0	0	0	0	0	0	1	15889	755	27	1		1	TICAM1	19	4816266	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	470310	4816266	54312717	991	87877											
TICAM1	148022	broad.mit.edu	37	chr19	4818055	4818055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtaggccacgtcccgcagcGaggcggggcacagcttctcc	15	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:4818055G>A	uc002mbi.2	-	2	586	c.335C>T	c.(334-336)TCG>TTG	p.S112L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	112					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTCCCGCAGCGAGGCGGGGCA	0.687													A	4818055	G	A	4818055	3	1	160	1	0	0	0	0	1	0	0	0	15889	1059	37	1	1807	1	TICAM1	19	4818055	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1789	4818055	54310928	992	87878											
ZNF358	140467	broad.mit.edu	37	chr19	7584517	7584517	+	Frame_Shift_Del	DEL	C	C	-													ctcctctggcctcactgccaCcccccaggtcttggccacca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:7584516_7584516AC>A	uc002mgn.2	+	1	558	c.388_388AC>A	c.(388-390)accfs	p.T130fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.T130fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	130					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						CCTCACTGCCACCCCCCAGGT	0.697													-	7584517	C	-	7584517	7	5	160	1	0	1	0	1	0	0	0	0	17864	507	18	0	391	0	ZNF358	19	7584517	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	2766462	7584517	51544466	993	87879											
MAP2K7	5609	broad.mit.edu	37	chr19	7975353	7975353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaaatgcggcgctccGggaacaaggaggagaacaag	15	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:7975353G>A	uc002mit.2	+	5	528	c.463G>A	c.(463-465)GGG>AGG	p.G155R	MAP2K7_uc002miv.2_Missense_Mutation_p.G155R|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G155R|MAP2K7_uc010dvv.2_Missense_Mutation_p.G30R	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	155	Protein kinase.				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCGGCGCTCCGGGAACAAGGA	0.632													A	7975353	G	A	7975353	3	1	160	1	0	0	0	0	1	0	0	0	9242	1116	39	1	481	1	MAP2K7	19	7975353	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	390836	7975353	51153630	994	87880											
FBN3	84467	broad.mit.edu	37	chr19	8153044	8153044	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgcccacaggggtggccGacagagcactcgtctgtgtc	13	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8153044G>A	uc002mjf.2	-	51	6417	c.6396C>T	c.(6394-6396)GTC>GTT	p.V2132V	FBN3_uc002mje.2_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2132	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						AGGGGTGGCCGACAGAGCACT	0.612													A	8153044	G	A	8153044	2	1	160	1	0	0	0	0	0	0	0	1	5704	1045	37	1		1	FBN3	19	8153044	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	177691	8153044	50975939	995	87881											
CD320	51293	broad.mit.edu	37	chr19	8367417	8367417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagtaaccccagtgggCggaggcgctcctgggctcgg	15	15	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8367417C>T	uc002mjj.1	-	5	844	c.779G>A	c.(778-780)CGC>CAC	p.R260H	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.R218H	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	260	Cytoplasmic (Potential).				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						CCCCAGTGGGCGGAGGCGCTC	0.622													T	8367417	C	T	8367417	3	4	160	1	0	0	0	0	1	0	0	0	3004	768	27	1	73	1	CD320	19	8367417	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	214373	8367417	50761566	996	87882											
MYO1F	4542	broad.mit.edu	37	chr19	8609255	8609255	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtccccacagccgcctGcagcttctgcagcagtgtct	12	15	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8609255G>A	uc002mkg.2	-	14	1564	c.1450C>T	c.(1450-1452)CAG>TAG	p.Q484*		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	484	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ACAGCCGCCTGCAGCTTCTGC	0.677													A	8609255	G	A	8609255	4	1	160	1	0	0	0	0	0	1	0	0	10073	1328	46	2	1906	2	MYO1F	19	8609255	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	241838	8609255	50519728	997	87883											
MYO1F	4542	broad.mit.edu	37	chr19	8619539	8619539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagccccagcctcaccGcgccctgatagaggtcgatc	9	19	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8619539G>A	uc002mkg.2	-	3	344	c.230C>T	c.(229-231)GCG>GTG	p.A77V	MYO1F_uc002mkh.2_Missense_Mutation_p.A77V|MYO1F_uc010xkf.1_Missense_Mutation_p.A77V	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	77	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CAGCCTCACCGCGCCCTGATA	0.627													A	8619539	G	A	8619539	3	1	160	1	0	0	0	0	1	0	0	0	10073	1101	38	1	3170	1	MYO1F	19	8619539	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	10284	8619539	50509444	998	87884											
MUC16	94025	broad.mit.edu	37	chr19	9071218	9071218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcggcttctgtgtgtgCagtgtctttgtaagtggccg	15	8	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:9071218C>T	uc002mkp.2	-	3	16432	c.16228G>A	c.(16228-16230)GCA>ACA	p.A5410T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5412	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTGTGTGTGCAGTGTCTTTG	0.502													T	9071218	C	T	9071218	3	4	160	1	0	0	0	0	1	0	0	0	9973	710	25	2	27623	2	MUC16	19	9071218	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	451679	9071218	50057765	999	87885											
PDE4A	5141	broad.mit.edu	37	chr19	10574506	10574506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgccgacctcagcaAccccaccaagccgctggagc	10	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:10574506A>G	uc002moj.2	+	14	1889	c.1781A>G	c.(1780-1782)AAC>AGC	p.N594S	PDE4A_uc002mok.2_Missense_Mutation_p.N568S|PDE4A_uc002mol.2_Missense_Mutation_p.N533S|PDE4A_uc002mom.2_Missense_Mutation_p.N355S|PDE4A_uc002mon.2_Missense_Mutation_p.N49S|PDE4A_uc002moo.2_Missense_Mutation_p.N260S	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	594	Catalytic.	Binds AMP, but not cAMP (By similarity).			signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			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)	GACCTCAGCAACCCCACCAAG	0.617													G	10574506	A	G	10574506	3	3	160	1	0	0	0	0	1	0	0	0	11639	43	2	3	2292	3	PDE4A	19	10574506	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1503288	10574506	48554477	1000	87886											
ILF3	3609	broad.mit.edu	37	chr19	10787915	10787915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gataaaaaacacaaaagagcCtccattgtccctgaccatcc	5	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:10787915C>A	uc002mpn.2	+	5	805	c.488C>A	c.(487-489)CCT>CAT	p.P163H	ILF3_uc002mpm.2_Missense_Mutation_p.P163H|ILF3_uc002mpl.2_Missense_Mutation_p.P163H|ILF3_uc002mpk.2_Missense_Mutation_p.P163H|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.P163H|ILF3_uc002mpp.2_5'UTR	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	163	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|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAAAAGAGCCTCCATTGTCC	0.458													A	10787915	C	A	10787915	3	1	160	1	0	0	0	0	1	0	0	0	7712	681	24	5	502	5	ILF3	19	10787915	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	213409	10787915	48341068	1001	87887											
DNM2	1785	broad.mit.edu	37	chr19	10883278	10883278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcatctccccagtgcccaTcaaccttcgagtctactcgc	7	17	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:10883278T>C	uc002mps.1	+	3	523	c.359T>C	c.(358-360)ATC>ACC	p.I120T	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I120T|DNM2_uc002mpv.1_Missense_Mutation_p.I120T|DNM2_uc002mpu.1_Missense_Mutation_p.I120T|DNM2_uc010dxl.1_Missense_Mutation_p.I120T	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAGTGCCCATCAACCTTCGA	0.552													C	10883278	T	C	10883278	3	2	160	1	0	0	0	0	1	0	0	0	4672	1435	50	3	369	3	DNM2	19	10883278	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	95363	10883278	48245705	1002	87888											
LDLR	3949	broad.mit.edu	37	chr19	11216248	11216248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatggtggccccgactgCaaggacaaatctgacgagga	14	9	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:11216248C>T	uc002mqk.3	+	4	834	c.666C>T	c.(664-666)TGC>TGT	p.C222C	LDLR_uc010xlk.1_Silent_p.C222C|LDLR_uc010xll.1_Silent_p.C181C|LDLR_uc010xlm.1_Silent_p.C75C|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	222	LDL-receptor class A 5.|Extracellular (Potential).		C -> Y (in FH).		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			ovary(2)|skin(2)	4		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)	GCCCCGACTGCAAGGACAAAT	0.642													T	11216248	C	T	11216248	2	4	160	1	0	0	0	0	0	0	0	1	8704	718	25	2		2	LDLR	19	11216248	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	332970	11216248	47912735	1003	87889											
DOCK6	57572	broad.mit.edu	37	chr19	11361640	11361640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtccacatcttctggggcCgcccgctctagcagagaggg	14	14	3	1	rs114634227	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:11361640C>T	uc002mqs.3	-	6	671	c.630G>A	c.(628-630)GCG>GCA	p.A210A		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	210					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTCTGGGGCCGCCCGCTCTA	0.662													T	11361640	C	T	11361640	2	4	160	1	0	0	0	0	0	0	0	1	4691	639	23	1		1	DOCK6	19	11361640	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	145392	11361640	47767343	1004	87890											
ZNF136	7695	broad.mit.edu	37	chr19	12298640	12298640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgtaagcgatgtggtAaagcctttagatcttctagt	10	5	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:12298640A>G	uc002mti.2	+	4	1547	c.1447A>G	c.(1447-1449)AAA>GAA	p.K483E	ZNF136_uc010xmh.1_Missense_Mutation_p.K417E	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	483	C2H2-type 13.				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			ovary(1)|pancreas(1)	2						GCGATGTGGTAAAGCCTTTAG	0.428													G	12298640	A	G	12298640	3	3	160	1	0	0	0	0	1	0	0	0	17723	363	13	3	1461	3	ZNF136	19	12298640	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	937000	12298640	46830343	1005	87891											
TNPO2	30000	broad.mit.edu	37	chr19	12822392	12822392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggatgatgtcaatttccGagtacttcatcccattcacc	7	12	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:12822392G>A	uc002muo.2	-	10	1111	c.926C>T	c.(925-927)TCG>TTG	p.S309L	TNPO2_uc002mup.2_Missense_Mutation_p.S401L|TNPO2_uc002muq.2_Missense_Mutation_p.S309L|TNPO2_uc002mur.2_Missense_Mutation_p.S309L	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	309	HEAT 5.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GTCAATTTCCGAGTACTTCAT	0.582													A	12822392	G	A	12822392	3	1	160	1	0	0	0	0	1	0	0	0	16333	1059	37	1	1827	1	TNPO2	19	12822392	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	523752	12822392	46306591	1006	87892											
IL27RA	9466	broad.mit.edu	37	chr19	14161650	14161650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacagcatctaccatcGctggacagggccctcctggt	13	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:14161650G>A	uc002mxx.2	+	11	1906	c.1483G>A	c.(1483-1485)GCT>ACT	p.A495T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	495	Extracellular (Potential).|Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						ATCTACCATCGCTGGACAGGG	0.592													A	14161650	G	A	14161650	3	1	160	1	0	0	0	0	1	0	0	0	7681	1087	38	1	1525	1	IL27RA	19	14161650	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1339258	14161650	44967333	1007	87893											
SLC1A6	6511	broad.mit.edu	37	chr19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgaagctccagctccCgctgagacaagtgctcgatg	10	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:15061128C>T	uc002naa.1	-	9	1582	c.1574G>A	c.(1573-1575)CGG>CAG	p.R525Q	SLC1A6_uc010dzu.1_Missense_Mutation_p.R447Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R461Q	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	525					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CTCCAGCTCCCGCTGAGACAA	0.612													T	15061128	C	T	15061128	3	4	160	1	0	0	0	0	1	0	0	0	14436	652	23	1	124	1	SLC1A6	19	15061128	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	899478	15061128	44067855	1008	87894											
NOTCH3	4854	broad.mit.edu	37	chr19	15290896	15290896	+	Frame_Shift_Del	DEL	C	C	-													cccttacctcacacatgtagCcccccatatagccacggcag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:15290895_15290895GC>G	uc002nan.3	-	19	3391	c.3315_3315GC>C	c.(3313-3315)ggcfs	p.G1105fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.G1053fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1105	EGF-like 28.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G1104W(1)		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)			CACACATGTAGCCCCCCATAT	0.642													-	15290896	C	-	15290896	7	5	160	1	0	1	0	1	0	0	0	0	10550	739	26	0	3707	0	NOTCH3	19	15290896	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	229768	15290896	43838087	1009	87895											
MED26	9441	broad.mit.edu	37	chr19	16687986	16687986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttgacggggatcttgcCactgtgcttgtcattctcgt	13	10	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:16687986C>A	uc002nen.1	-	3	916	c.655G>T	c.(655-657)GGC>TGC	p.G219C	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	219					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			ovary(2)	2						GGGATCTTGCCACTGTGCTTG	0.667													A	16687986	C	A	16687986	3	1	160	1	0	0	0	0	1	0	0	0	9444	594	21	5	1151	5	MED26	19	16687986	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1397090	16687986	42440997	1010	87896											
KIAA1683	80726	broad.mit.edu	37	chr19	18368002	18368002	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtcctagatgccaggCcaatgcatgtgccgtgagct	13	12	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:18368002C>T	uc002nin.2	-	4	3747	c.3531G>A	c.(3529-3531)TGG>TGA	p.W1177*	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Nonsense_Mutation_p.W1364*|KIAA1683_uc010xqe.1_Nonsense_Mutation_p.W1131*|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	1177						mitochondrion				ovary(2)	2						AGATGCCAGGCCAATGCATGT	0.597													T	18368002	C	T	18368002	4	4	160	1	0	0	0	0	0	1	0	0	8251	740	26	2	15	2	KIAA1683	19	18368002	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1680016	18368002	40760981	1011	87897											
GATAD2A	54815	broad.mit.edu	37	chr19	19609358	19609358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgagtctccagcaagccGacaggcggccgccaagctgg	14	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:19609358G>A	uc010xqt.1	+	8	1343	c.1031G>A	c.(1030-1032)CGA>CAA	p.R344Q	GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Missense_Mutation_p.R363Q|GATAD2A_uc010xqw.1_Missense_Mutation_p.R171Q	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	344					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCAGCAAGCCGACAGGCGGCC	0.647													A	19609358	G	A	19609358	3	1	160	1	0	0	0	0	1	0	0	0	6260	1058	37	1	1057	1	GATAD2A	19	19609358	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1241356	19609358	39519625	1012	87898											
GMIP	51291	broad.mit.edu	37	chr19	19747534	19747534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgggctggaagtgggtgAgtccagggaccgagactcgc	17	10	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:19747534A>C	uc002nnd.2	-	13	1426	c.1309T>G	c.(1309-1311)TCA>GCA	p.S437A	GMIP_uc010xrb.1_Missense_Mutation_p.S437A|GMIP_uc010xrc.1_Missense_Mutation_p.S434A	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	437					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GAAGTGGGTGAGTCCAGGGAC	0.627													C	19747534	A	C	19747534	3	2	160	1	0	0	0	0	1	0	0	0	6491	304	11	5	1639	5	GMIP	19	19747534	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	138176	19747534	39381449	1013	87899											
ZNF254	9534	broad.mit.edu	37	chr19	24289419	24289419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagccctggaatatgaagcGacatgagatggtggatgaac	14	6	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:24289419G>A	uc002nru.2	+	3	361	c.227G>A	c.(226-228)CGA>CAA	p.R76Q	ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_RNA	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	76	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATATGAAGCGACATGAGATG	0.423													A	24289419	G	A	24289419	3	1	160	1	0	0	0	0	1	0	0	0	17795	1058	37	1	237	1	ZNF254	19	24289419	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4541885	24289419	34839564	1014	87900											
CHST8	64377	broad.mit.edu	37	chr19	34263835	34263835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccggcactcgcaggaggCgcggaccacagcgaggatcg	17	13	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:34263835C>T	uc002nus.3	+	5	1647	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	CHST8_uc002nut.3_Missense_Mutation_p.A381V|CHST8_uc002nuu.2_Missense_Mutation_p.A381V	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	381	Lumenal (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TCGCAGGAGGCGCGGACCACA	0.612													T	34263835	C	T	34263835	3	4	160	1	0	0	0	0	1	0	0	0	3410	768	27	1	1152	1	CHST8	19	34263835	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9974416	34263835	24865148	1015	87901											
DMKN	93099	broad.mit.edu	37	chr19	35989795	35989795	+	Frame_Shift_Del	DEL	C	C	-													ccgaggaagaaggtgagactCccccctgcaaaaagatcaaa							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:35989794_35989794TC>T	uc002nzm.4	-	13	1548	c.1365_1365GA>A	c.(1363-1365)ggafs	p.G455fs	DMKN_uc002nzi.4_Frame_Shift_Del_p.G69fs|DMKN_uc002nzj.3_Frame_Shift_Del_p.G143fs|DMKN_uc002nzl.4_Frame_Shift_Del_p.G168fs|DMKN_uc002nzk.4_Frame_Shift_Del_p.G116fs|DMKN_uc002nzo.4_Frame_Shift_Del_p.G444fs|DMKN_uc002nzn.4_Frame_Shift_Del_p.G428fs|DMKN_uc002nzu.2_Frame_Shift_Del_p.G116fs|DMKN_uc002nzv.2_Frame_Shift_Del_p.G102fs|DMKN_uc002nzw.2_Frame_Shift_Del_p.G125fs|DMKN_uc002nzq.2_Frame_Shift_Del_p.G131fs|DMKN_uc002nzp.2_Frame_Shift_Del_p.G149fs|DMKN_uc002nzr.2_Frame_Shift_Del_p.G111fs|DMKN_uc002nzs.2_Frame_Shift_Del_p.G102fs|DMKN_uc002nzt.2_Frame_Shift_Del_p.G102fs	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	455						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)			AAGGTGAGACTCCCCCCTGCA	0.592													-	35989795	C	-	35989795	7	5	160	1	0	1	0	1	0	0	0	0	4582	855	30	0	74	0	DMKN	19	35989795	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	1725960	35989795	23139188	1016	87902											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	160	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	220969	36210764	22918219	1017	87903											
ARHGAP33	115703	broad.mit.edu	37	chr19	36279044	36279044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcccctcctgcccacCcccgaagccgttcagatccc	5	23	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:36279044C>A	uc002obs.1	+	21	3179	c.3094C>A	c.(3094-3096)CCC>ACC	p.P1032T	ARHGAP33_uc002obt.1_Missense_Mutation_p.P1029T|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.P781T	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1193					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TCCTGCCCACCCCCGAAGCCG	0.687													A	36279044	C	A	36279044	3	1	160	1	0	0	0	0	1	0	0	0	882	623	22	5	3659	5	ARHGAP33	19	36279044	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	68280	36279044	22849939	1018	87904											
LRFN3	79414	broad.mit.edu	37	chr19	36430878	36430878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgggcaacgtcaacaCgttgggcctcgaccacaacc	10	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:36430878C>T	uc002oco.2	+	2	1003	c.551C>T	c.(550-552)ACG>ATG	p.T184M		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	184	Extracellular (Potential).|LRR 6.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			AACGTCAACACGTTGGGCCTC	0.652													T	36430878	C	T	36430878	3	4	160	1	0	0	0	0	1	0	0	0	8939	536	19	1	553	1	LRFN3	19	36430878	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	151834	36430878	22698105	1019	87905											
SIPA1L3	23094	broad.mit.edu	37	chr19	38573489	38573489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgctgctcagctgcccGcacttccgcaatgagatcgg	11	15	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:38573489G>A	uc002ohk.2	+	3	1793	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	428					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCAGCTGCCCGCACTTCCGCA	0.647													A	38573489	G	A	38573489	2	1	160	1	0	0	0	0	0	0	0	1	14331	1074	38	1		1	SIPA1L3	19	38573489	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2142611	38573489	20555494	1020	87906											
IL28B	282617	broad.mit.edu	37	chr19	39734753	39734753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctccagaaccttcagCgtcagggccagctcagcctc	11	16	3	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:39734753C>T	uc010xut.1	-	3	307	c.303G>A	c.(301-303)ACG>ACA	p.T101T	IL28B_uc010xuu.1_Silent_p.T101T	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	101					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAACCTTCAGCGTCAGGGCCA	0.488													T	39734753	C	T	39734753	2	4	160	1	0	0	0	0	0	0	0	1	7683	755	27	1		1	IL28B	19	39734753	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1161264	39734753	19394230	1021	87907											
SAMD4B	55095	broad.mit.edu	37	chr19	39847579	39847579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgctggctggttcaaaGgctggaatgagtgtgagcag	15	8	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:39847579G>T	uc002olb.2	+	5	1081	c.46G>T	c.(46-48)GGC>TGC	p.G16C	SAMD4B_uc002ola.2_Missense_Mutation_p.G16C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	16							protein binding				0	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)			CTGGTTCAAAGGCTGGAATGA	0.662													T	39847579	G	T	39847579	3	4	160	1	0	0	0	0	1	0	0	0	13822	1000	35	5	48	5	SAMD4B	19	39847579	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	112826	39847579	19281404	1022	87908											
SAMD4B	55095	broad.mit.edu	37	chr19	39868230	39868230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggccaccgtggctgccGccaccaccacccctactgcc	8	22	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:39868230G>A	uc002olb.2	+	10	2245	c.1210G>A	c.(1210-1212)GCC>ACC	p.A404T	SAMD4B_uc002ola.2_Missense_Mutation_p.A404T	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	404							protein binding				0	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)			CGTGGCTGCCGCCACCACCAC	0.657													A	39868230	G	A	39868230	3	1	160	1	0	0	0	0	1	0	0	0	13822	1087	38	1	1232	1	SAMD4B	19	39868230	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	20651	39868230	19260753	1023	87909											
PRX	57716	broad.mit.edu	37	chr19	40900053	40900053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtgacttctctctgacGggggacttgggggctgcatc	16	9	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:40900053G>A	uc002onr.2	-	7	4475	c.4206C>T	c.(4204-4206)CCC>CCT	p.P1402P	PRX_uc002onq.2_Silent_p.P1263P|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1402					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTCTCTGACGGGGGACTTGG	0.692													A	40900053	G	A	40900053	2	1	160	1	0	0	0	0	0	0	0	1	12642	1103	39	1		1	PRX	19	40900053	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1031823	40900053	18228930	1024	87910											
PRX	57716	broad.mit.edu	37	chr19	40901223	40901223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttgaacttgaggtcGgcccctgccacctctacctt	9	17	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:40901223G>A	uc002onr.2	-	7	3305	c.3036C>T	c.(3034-3036)GCC>GCT	p.A1012A	PRX_uc002onq.2_Silent_p.A873A|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1012					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTGAGGTCGGCCCCTGCCA	0.652													A	40901223	G	A	40901223	2	1	160	1	0	0	0	0	0	0	0	1	12642	1103	39	1		1	PRX	19	40901223	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1170	40901223	18227760	1025	87911											
SPTBN4	57731	broad.mit.edu	37	chr19	41066148	41066148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgctagccgggagcaGgaggtgctgcagggttggaa	18	9	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:41066148G>T	uc002ony.2	+	27	5840	c.5754G>T	c.(5752-5754)CAG>CAT	p.Q1918H	SPTBN4_uc002onx.2_Missense_Mutation_p.Q1918H|SPTBN4_uc002onz.2_Missense_Mutation_p.Q1918H|SPTBN4_uc010egx.2_Missense_Mutation_p.Q661H|SPTBN4_uc002ooa.2_Missense_Mutation_p.Q594H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1918	Spectrin 16.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCGGGAGCAGGAGGTGCTGC	0.667													T	41066148	G	T	41066148	3	4	160	1	0	0	0	0	1	0	0	0	15120	991	35	5	5856	5	SPTBN4	19	41066148	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	164925	41066148	18062835	1026	87912											
CCDC97	90324	broad.mit.edu	37	chr19	41822576	41822576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttcctggagcgcttcCgcacaggcctccgtgaggag	15	12	0	1	rs142783394		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:41822576C>T	uc002oqg.2	+	2	456	c.334C>T	c.(334-336)CGC>TGC	p.R112C	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	112											0						GGAGCGCTTCCGCACAGGCCT	0.637													T	41822576	C	T	41822576	3	4	160	1	0	0	0	0	1	0	0	0	2875	652	23	1	340	1	CCDC97	19	41822576	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	756428	41822576	17306407	1027	87913											
ZNF574	64763	broad.mit.edu	37	chr19	42584249	42584249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcggcgccataaatgCagcatttgtggcaagatgtt	13	8	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42584249C>T	uc002osm.3	+	2	1660	c.1491C>T	c.(1489-1491)TGC>TGT	p.C497C	ZNF574_uc002osk.3_Silent_p.C587C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	497	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GCCATAAATGCAGCATTTGTG	0.592													T	42584249	C	T	42584249	2	4	160	1	0	0	0	0	0	0	0	1	18003	718	25	2		2	ZNF574	19	42584249	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	761673	42584249	16544734	1028	87914											
ZNF574	64763	broad.mit.edu	37	chr19	42584642	42584642	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggtgcaccagctcgtGgtccatgccgggcgccagcc	15	15	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42584642G>T	uc002osm.3	+	2	2053	c.1884G>T	c.(1882-1884)GTG>GTT	p.V628V	ZNF574_uc002osk.3_Silent_p.V718V	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	628	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				ACCAGCTCGTGGTCCATGCCG	0.682													T	42584642	G	T	42584642	2	4	160	1	0	0	0	0	0	0	0	1	18003	1335	47	5		5	ZNF574	19	42584642	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	393	42584642	16544341	1029	87915											
ZNF526	116115	broad.mit.edu	37	chr19	42729572	42729572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtacaacctgctccaaGgtcttcaagaaagcagcatc	9	11	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42729572G>T	uc002osz.1	+	3	1173	c.1017G>T	c.(1015-1017)AAG>AAT	p.K339N		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	339	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				CCTGCTCCAAGGTCTTCAAGA	0.607													T	42729572	G	T	42729572	3	4	160	1	0	0	0	0	1	0	0	0	17964	991	35	5	1019	5	ZNF526	19	42729572	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	144930	42729572	16399411	1030	87916											
CIC	23152	broad.mit.edu	37	chr19	42794850	42794850	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagcaagagggcggcGgagccagagtgccctccgcc	18	12	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42794850G>T	uc002otf.1	+	10	1970	c.1930G>T	c.(1930-1932)GGA>TGA	p.G644*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	644	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AGAGGGCGGCGGAGCCAGAGT	0.692			T	DUX4	soft tissue sarcoma								T	42794850	G	T	42794850	4	4	160	1	0	0	0	0	0	1	0	0	3424	1117	39	5	1968	5	CIC	19	42794850	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	65278	42794850	16334133	1031	87917											
CIC	23152	broad.mit.edu	37	chr19	42795222	42795222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaacctactggtgggcaccCcggggtatggggcccctgcg	15	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42795222C>A	uc002otf.1	+	10	2342	c.2302C>A	c.(2302-2304)CCG>ACG	p.P768T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	768	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GGTGGGCACCCCGGGGTATGG	0.697			T	DUX4	soft tissue sarcoma								A	42795222	C	A	42795222	3	1	160	1	0	0	0	0	1	0	0	0	3424	623	22	5	2340	5	CIC	19	42795222	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	372	42795222	16333761	1032	87918											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42801471	42801471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcgttcacctgtcggTtcttctcccgaagtgggttg	11	13	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42801471T>C	uc002otg.2	-	5	790	c.455A>G	c.(454-456)AAC>AGC	p.N152S	PAFAH1B3_uc010xwi.1_Missense_Mutation_p.N152S|PAFAH1B3_uc010xwj.1_Missense_Mutation_p.N152S	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase,	152					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding				0		Prostate(69;0.0704)				CACCTGTCGGTTCTTCTCCCG	0.587													C	42801471	T	C	42801471	3	2	160	1	0	0	0	0	1	0	0	0	11386	1725	60	3	244	3	PAFAH1B3	19	42801471	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	6249	42801471	16327512	1033	87919											
LIPE	3991	broad.mit.edu	37	chr19	42910455	42910455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggcacccgcaccccGtaggctgctgcccgaagagc	11	18	1	1	rs141921519	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42910455G>A	uc002otr.2	-	7	2500	c.2223C>T	c.(2221-2223)TAC>TAT	p.Y741Y	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	741					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CCCGCACCCCGTAGGCTGCTG	0.662													A	42910455	G	A	42910455	2	1	160	1	0	0	0	0	0	0	0	1	8821	1140	40	1		1	LIPE	19	42910455	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	108984	42910455	16218528	1034	87920											
CXCL17	284340	broad.mit.edu	37	chr19	42938009	42938009	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggcctctggcgacccCtgtcggaaggaaacaggtca	13	13	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42938009C>A	uc002otu.2	-	2	232	c.80_splice	c.e2-1	p.G27_splice	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_198477	NP_940879	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17 precursor						angiogenesis|cell differentiation|chemotaxis	extracellular region					0		Prostate(69;0.00899)				CTGGCGACCCCTGTCGGAAGG	0.527											OREG0025504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	42938009	C	A	42938009	5	1	160	1	0	0	0	0	0	0	1	0	4084	695	24	5	292	5	CXCL17	19	42938009	Splice_Site	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	27554	42938009	16190974	1035	87921											
ZNF296	162979	broad.mit.edu	37	chr19	45575370	45575370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcagcatggacagccGgctccggaggggctgcagag	19	11	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:45575370G>A	uc002pao.2	-	3	974	c.917C>T	c.(916-918)CCG>CTG	p.P306L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	306					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGGACAGCCGGCTCCGGAGG	0.706													A	45575370	G	A	45575370	3	1	160	1	0	0	0	0	1	0	0	0	17825	1116	39	1	514	1	ZNF296	19	45575370	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2637361	45575370	13553613	1036	87922											
PPP1R13L	10848	broad.mit.edu	37	chr19	45899679	45899679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctttcggaggccgccggCgcagcgtcaggtcgtctggg	18	12	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:45899679C>T	uc002pbn.2	-	5	805	c.728G>A	c.(727-729)CGC>CAC	p.R243H	PPP1R13L_uc002pbo.2_Missense_Mutation_p.R243H|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R243H	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	243	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGCCGCCGGCGCAGCGTCAG	0.652													T	45899679	C	T	45899679	3	4	160	1	0	0	0	0	1	0	0	0	12358	768	27	1	1794	1	PPP1R13L	19	45899679	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	324309	45899679	13229304	1037	87923											
OPA3	80207	broad.mit.edu	37	chr19	46088007	46088007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcttcgccatagggaAcgcgcccaccaccatcttgg	10	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:46088007A>C	uc002pck.3	-	1	116	c.16T>G	c.(16-18)TTC>GTC	p.F6V	OPA3_uc002pcj.3_Missense_Mutation_p.F6V|OPA3_uc010xxk.1_Intron	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	6					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCCATAGGGAACGCGCCCACC	0.642													C	46088007	A	C	46088007	3	2	160	1	0	0	0	0	1	0	0	0	10872	43	2	5	936	5	OPA3	19	46088007	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	188328	46088007	13040976	1038	87924											
QPCTL	54814	broad.mit.edu	37	chr19	46205129	46205129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttccaacccggggagccCtttggctctgtggaagacga	12	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:46205129C>T	uc010xxr.1	+	6	1181	c.960C>T	c.(958-960)CCC>CCT	p.P320P	QPCTL_uc010ekn.2_Silent_p.P226P	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	320					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			skin(1)	1		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)		CCGGGGAGCCCTTTGGCTCTG	0.577													T	46205129	C	T	46205129	2	4	160	1	0	0	0	0	0	0	0	1	12875	668	24	4		4	QPCTL	19	46205129	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	117122	46205129	12923854	1039	87925											
DMWD	1762	broad.mit.edu	37	chr19	46289676	46289676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcctcgagccaccaCgcggccctcggtgaaggacc	13	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:46289676C>T	uc002pdj.1	-	3	1124	c.1078G>A	c.(1078-1080)GTG>ATG	p.V360M	DMWD_uc002pdk.1_Missense_Mutation_p.V360M|DMWD_uc010eko.1_Missense_Mutation_p.V45M	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	360	WD 3.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGAGCCACCACGCGGCCCTCG	0.667													T	46289676	C	T	46289676	3	4	160	1	0	0	0	0	1	0	0	0	4593	536	19	1	958	1	DMWD	19	46289676	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	84547	46289676	12839307	1040	87926											
STRN4	29888	broad.mit.edu	37	chr19	47242056	47242056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacctttcctgcttcagCgcatactctagcatcttgat	6	14	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:47242056C>T	uc002pfl.2	-	2	405	c.372G>A	c.(370-372)GCG>GCA	p.A124A	STRN4_uc002pfm.2_Silent_p.A124A|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	124	Potential.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		CCTGCTTCAGCGCATACTCTA	0.607													T	47242056	C	T	47242056	2	4	160	1	0	0	0	0	0	0	0	1	15330	755	27	1		1	STRN4	19	47242056	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	952380	47242056	11886927	1041	87927											
EHD2	30846	broad.mit.edu	37	chr19	48239678	48239678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgccctctgtgtttgGgaaggagaacaagaagaagc	15	6	1	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:48239678G>T	uc002phj.3	+	5	1218	c.968G>T	c.(967-969)GGG>GTG	p.G323V	EHD2_uc010xyu.1_Missense_Mutation_p.G187V|EHD2_uc010xyv.1_Missense_Mutation_p.G6V	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	323					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		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)		TCTGTGTTTGGGAAGGAGAAC	0.408													T	48239678	G	T	48239678	3	4	160	1	0	0	0	0	1	0	0	0	4978	1232	43	5	982	5	EHD2	19	48239678	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	997622	48239678	10889305	1042	87928											
TULP2	7288	broad.mit.edu	37	chr19	49391480	49391480	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggagttcgtccctgtAgactcagaggcctctctctt	11	12	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:49391480A>G	uc002pkz.2	-	8	826	c.675T>C	c.(673-675)TCT>TCC	p.S225S		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	225					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCGTCCCTGTAGACTCAGAGG	0.552													G	49391480	A	G	49391480	2	3	160	1	0	0	0	0	0	0	0	1	16771	407	15	3		3	TULP2	19	49391480	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	1151802	49391480	9737503	1043	87929											
PRMT1	3276	broad.mit.edu	37	chr19	50191485	50191485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgagctgtcctgctccaccGactaccggatgcgctgaggc	13	15	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:50191485G>A	uc010enf.1	+	11	1141	c.1099G>A	c.(1099-1101)GAC>AAC	p.D367N	CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.D343N|PRMT1_uc002ppe.2_Missense_Mutation_p.D349N|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.D314N|PRMT1_uc010ybb.1_RNA|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	348						cytoplasm	protein methyltransferase activity			ovary(1)	1		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CTGCTCCACCGACTACCGGAT	0.687													A	50191485	G	A	50191485	3	1	160	1	0	0	0	0	1	0	0	0	12535	1058	37	1	1141	1	PRMT1	19	50191485	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	800005	50191485	8937498	1044	87930											
SPIB	6689	broad.mit.edu	37	chr19	50926143	50926143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctatgaagccttcgaccCggcagcagccgcttttagcc	9	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:50926143C>T	uc002psd.2	+	4	213	c.188C>T	c.(187-189)CCG>CTG	p.P63L	SPIB_uc002pse.2_Missense_Mutation_p.P63L|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	63					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCTTCGACCCGGCAGCAGCC	0.657													T	50926143	C	T	50926143	3	4	160	1	0	0	0	0	1	0	0	0	15049	652	23	1	202	1	SPIB	19	50926143	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	734658	50926143	8202840	1045	87931											
LRRC4B	94030	broad.mit.edu	37	chr19	51021443	51021443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggcggttccttctcCgtcccccgcggctgcagggc	14	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:51021443C>T	uc002pss.2	-	3	1664	c.1527G>A	c.(1525-1527)ACG>ACA	p.T509T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	509	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTTCCTTCTCCGTCCCCCGCG	0.642													T	51021443	C	T	51021443	2	4	160	1	0	0	0	0	0	0	0	1	9007	639	23	1		1	LRRC4B	19	51021443	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	95300	51021443	8107540	1046	87932											
SYT3	84258	broad.mit.edu	37	chr19	51129177	51129177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagccagtgaggtccatcGctttgaggttagaggctttg	14	7	0	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:51129177G>A	uc002pst.2	-	5	2013	c.1379C>T	c.(1378-1380)GCG>GTG	p.A460V	SYT3_uc002psv.2_Missense_Mutation_p.A460V|SYT3_uc010ycd.1_Missense_Mutation_p.A460V	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	460	C2 2.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTCCATCGCTTTGAGGTT	0.373													A	51129177	G	A	51129177	3	1	160	1	0	0	0	0	1	0	0	0	15472	1087	38	1	409	1	SYT3	19	51129177	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	107734	51129177	7999806	1047	87933											
ZNF175	7728	broad.mit.edu	37	chr19	52091581	52091581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcatcagcgaattcacaCgggagaaagaccttatgtgt	12	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:52091581C>T	uc002pxb.2	+	5	2375	c.1997C>T	c.(1996-1998)ACG>ATG	p.T666M	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	666					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CGAATTCACACGGGAGAAAGA	0.423													T	52091581	C	T	52091581	3	4	160	1	0	0	0	0	1	0	0	0	17742	536	19	1	2011	1	ZNF175	19	52091581	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	962404	52091581	7037402	1048	87934											
FPR3	2359	broad.mit.edu	37	chr19	52327888	52327888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccttttttaacagctGcctcaacccaattctctacg	5	14	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:52327888G>A	uc002pxt.1	+	2	1071	c.887G>A	c.(886-888)TGC>TAC	p.C296Y		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	296	Helical; Name=7; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						TTTAACAGCTGCCTCAACCCA	0.448													A	52327888	G	A	52327888	3	1	160	1	0	0	0	0	1	0	0	0	6040	1319	46	2	889	2	FPR3	19	52327888	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	236307	52327888	6801095	1049	87935											
ZNF701	55762	broad.mit.edu	37	chr19	53086002	53086002	+	Frame_Shift_Del	DEL	A	A	-													tttaatggtagctcactcttAaaaaaacatcagataatcca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:53086001_53086001TA>T	uc010ydn.2	+	4	950	c.887_887TA>T	c.(886-888)ttafs	p.L296fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.L230fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.L296fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTCACTCTTAAAAAAACAT	0.388													-	53086002	A	-	53086002	7	5	160	1	0	1	0	1	0	0	0	0	18102	359	13	0	902	0	ZNF701	19	53086002	Frame_Shift_Del	DEL	A	TCGA-CD-A4MI-01A-21D-A25D-08	758114	53086002	6042981	1050	87936											
VSTM1	284415	broad.mit.edu	37	chr19	54545207	54545207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtttggaatggctggtTctgaaagagagagacacacg	15	5	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:54545207T>C	uc002qcw.3	-	7	692	c.516A>G	c.(514-516)AGA>AGG	p.R172R	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.R141R	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	172						integral to membrane					0	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)		AATGGCTGGTTCTGAAAGAGA	0.368													C	54545207	T	C	54545207	2	2	160	1	0	0	0	0	0	0	0	1	17225	1797	62	3		3	VSTM1	19	54545207	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	1459205	54545207	4583776	1051	87937											
VSTM1	284415	broad.mit.edu	37	chr19	54561722	54561722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctgcttgtacccagagtCgttcaccttgcgcagcacaa	8	14	1	1	rs144159930		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:54561722C>T	uc002qcw.3	-	3	369	c.193G>A	c.(193-195)GAC>AAC	p.D65N	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.D65N	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	65	Ig-like V-type.					integral to membrane					0	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)		TACCCAGAGTCGTTCACCTTG	0.547													T	54561722	C	T	54561722	3	4	160	1	0	0	0	0	1	0	0	0	17225	884	31	1	545	1	VSTM1	19	54561722	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	16515	54561722	4567261	1052	87938											
OSCAR	126014	broad.mit.edu	37	chr19	54600445	54600445	+	Frame_Shift_Del	DEL	G	G	-													gcttagggtggtatgaagctGgggggactgaataaacgggg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:54600444_54600444TG>T	uc002qdd.3	-	3	270	c.153_153CA>A	c.(151-153)ccafs	p.P51fs	OSCAR_uc002qcy.3_Frame_Shift_Del_p.P30fs|OSCAR_uc002qcz.3_Frame_Shift_Del_p.P26fs|OSCAR_uc002qda.3_Frame_Shift_Del_p.P30fs|OSCAR_uc002qdb.3_Frame_Shift_Del_p.P15fs|OSCAR_uc010erc.3_5'UTR|OSCAR_uc002qdc.3_Frame_Shift_Del_p.P40fs|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	26	Ig-like 1.					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)					GGTATGAAGCTGGGGGGACTG	0.602													-	54600445	G	-	54600445	7	5	160	1	0	1	0	1	0	0	0	0	11285	1348	47	0	920	0	OSCAR	19	54600445	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	38723	54600445	4528538	1053	87939											
BRSK1	84446	broad.mit.edu	37	chr19	55816953	55816953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgtccatgcctttctgtCggtgaggggcctgggtcccc	13	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:55816953C>T	uc002qkg.2	+	16	2166	c.1889C>T	c.(1888-1890)TCG>TTG	p.S630L	BRSK1_uc002qkf.2_Missense_Mutation_p.S646L|BRSK1_uc002qkh.2_Missense_Mutation_p.S325L	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	630					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			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCTTTCTGTCGGTGAGGGGC	0.557													T	55816953	C	T	55816953	3	4	160	1	0	0	0	0	1	0	0	0	1523	898	31	1	1951	1	BRSK1	19	55816953	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1216508	55816953	3312030	1054	87940											
FIZ1	84922	broad.mit.edu	37	chr19	56109101	56109101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttgagcgctgtgtgcCgggcaaagtggcgccgcagg	20	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:56109101C>T	uc002qli.3	-	2	221	c.131G>A	c.(130-132)CGG>CAG	p.R44Q	FIZ1_uc002qlj.3_Missense_Mutation_p.R44Q|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	44	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGCTGTGTGCCGGGCAAAGTG	0.677													T	56109101	C	T	56109101	3	4	160	1	0	0	0	0	1	0	0	0	5900	652	23	1	1367	1	FIZ1	19	56109101	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	292148	56109101	3019882	1055	87941											
ZNF835	90485	broad.mit.edu	37	chr19	57176405	57176405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggattcggctgaattcatcGcgttcctgcatgctgtcccc	11	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:57176405G>A	uc010ygo.1	-	2	228	c.228C>T	c.(226-228)CGC>CGT	p.R76R	ZNF835_uc010ygn.1_Silent_p.R54R	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TGAATTCATCGCGTTCCTGCA	0.627													A	57176405	G	A	57176405	2	1	160	1	0	0	0	0	0	0	0	1	18183	1074	38	1		1	ZNF835	19	57176405	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1067304	57176405	1952578	1056	87942											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565232	58565232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccacctgctggagccacCgaggaagaaagccccccgga	12	15	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58565232C>A	uc002qrc.1	+	6	1287	c.1040C>A	c.(1039-1041)CCG>CAG	p.P347Q		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	347					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGGAGCCACCGAGGAAGAAA	0.667													A	58565232	C	A	58565232	3	1	160	1	0	0	0	0	1	0	0	0	18223	652	23	5	1054	5	ZSCAN1	19	58565232	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1388827	58565232	563751	1057	87943											
ZNF135	7694	broad.mit.edu	37	chr19	58574899	58574899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtctagacttccccaaggCgtgtacccaggtgagatggg	14	10	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58574899C>T	uc010yhq.1	+	4	342	c.246C>T	c.(244-246)GGC>GGT	p.G82G	ZNF135_uc002qre.2_Silent_p.G82G|ZNF135_uc002qrd.1_Silent_p.G40G|ZNF135_uc002qrf.2_Silent_p.G40G|ZNF135_uc002qrg.2_Silent_p.G40G|ZNF135_uc010yhr.1_5'UTR	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	82					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		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)		TTCCCCAAGGCGTGTACCCAG	0.567													T	58574899	C	T	58574899	2	4	160	1	0	0	0	0	0	0	0	1	17722	755	27	1		1	ZNF135	19	58574899	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	9667	58574899	554084	1058	87944											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846408	58846408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtcagtggctgcagccCgaggcgcactccaaggagca	14	13	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58846408C>T	uc002qsc.2	+	2	387	c.240C>T	c.(238-240)CCC>CCT	p.P80P	ZSCAN22_uc010yhz.1_Silent_p.P80P	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	80	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		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)		GGCTGCAGCCCGAGGCGCACT	0.667													T	58846408	C	T	58846408	2	4	160	1	0	0	0	0	0	0	0	1	18231	639	23	1		1	ZSCAN22	19	58846408	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	271509	58846408	282575	1059	87945											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846467	58846467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagcagttcctgggtgCgctgcccccagagatccaag	14	13	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58846467C>T	uc002qsc.2	+	2	446	c.299C>T	c.(298-300)GCG>GTG	p.A100V	ZSCAN22_uc010yhz.1_Missense_Mutation_p.A100V	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		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)		TTCCTGGGTGCGCTGCCCCCA	0.652													T	58846467	C	T	58846467	3	4	160	1	0	0	0	0	1	0	0	0	18231	768	27	1	301	1	ZSCAN22	19	58846467	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	59	58846467	282516	1060	87946											
ZNF132	7691	broad.mit.edu	37	chr19	58945306	58945306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactttctggtgctggatgAgggtggagctattactgaag	15	5	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58945306A>G	uc002qst.3	-	3	1906	c.1505T>C	c.(1504-1506)CTC>CCC	p.L502P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	502	C2H2-type 11.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		GTGCTGGATGAGGGTGGAGCT	0.498													G	58945306	A	G	58945306	3	3	160	1	0	0	0	0	1	0	0	0	17719	304	11	3	619	3	ZNF132	19	58945306	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	98839	58945306	183677	1061	87947											
SIRPG	55423	broad.mit.edu	37	chr20	1615967	1615967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgtgacctctagggcaaGgcgtttgctgaccgccagct	13	12	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:1615967G>T	uc002wfm.1	-	4	1092	c.1027C>A	c.(1027-1029)CTT>ATT	p.L343I	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	343	Extracellular (Potential).				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			ovary(1)	1						TCTAGGGCAAGGCGTTTGCTG	0.493													T	1615967	G	T	1615967	3	4	160	1	0	0	0	0	1	0	0	0	14336	1000	35	5	144	5	SIRPG	20	1615967	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		1615967	61409553	1062	87948											
ADAM33	80332	broad.mit.edu	37	chr20	3652954	3652954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacccatggcctggcggCacagcgctccagccggcttc	12	17	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:3652954C>T	uc002wit.2	-	14	1511	c.1424G>A	c.(1423-1425)TGC>TAC	p.C475Y	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.C475Y|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.C475Y|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	475	Extracellular (Potential).|Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GGCCTGGCGGCACAGCGCTCC	0.667													T	3652954	C	T	3652954	3	4	160	1	0	0	0	0	1	0	0	0	250	710	25	2	1053	2	ADAM33	20	3652954	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2036987	3652954	59372566	1063	87949											
SNAP25	6616	broad.mit.edu	37	chr20	10280034	10280034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagatcgatacacagaatCgccagatcgacaggatcatg	10	9	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:10280034C>T	uc002wnq.1	+	7	738	c.526C>T	c.(526-528)CGC>TGC	p.R176C	SNAP25_uc002wnr.1_Missense_Mutation_p.R176C|SNAP25_uc002wns.1_Missense_Mutation_p.R113C|SNAP25_uc010gca.1_Missense_Mutation_p.R176C|SNAP25_uc010gcb.1_Missense_Mutation_p.R113C|SNAP25_uc010gcc.1_Missense_Mutation_p.R70C	NM_130811	NP_570824	P60880	SNP25_HUMAN	synaptosomal-associated protein 25 isoform	176	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				skin(2)	2					Botulinum Toxin Type A(DB00083)	TACACAGAATCGCCAGATCGA	0.507													T	10280034	C	T	10280034	3	4	160	1	0	0	0	0	1	0	0	0	14830	884	31	1	670	1	SNAP25	20	10280034	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	6627080	10280034	52745486	1064	87950											
XRN2	22803	broad.mit.edu	37	chr20	21328891	21328891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaagggtacgaaaccGgtaagcttaattacttaaag	10	5	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:21328891G>A	uc002wsf.1	+	18	1868	c.1773G>A	c.(1771-1773)CCG>CCA	p.P591P	XRN2_uc002wsg.1_Silent_p.P515P|XRN2_uc010zsk.1_Silent_p.P537P	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	591					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			skin(1)	1						GTACGAAACCGGTAAGCTTAA	0.338													A	21328891	G	A	21328891	2	1	160	1	0	0	0	0	0	0	0	1	17457	1130	39	1		1	XRN2	20	21328891	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	11048857	21328891	41696629	1065	87951											
NKX2-2	4821	broad.mit.edu	37	chr20	21494212	21494212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctcgttctcttcctcCggaccttcggccacagagcc	9	19	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:21494212C>T	uc002wsi.2	-	1	453	c.96G>A	c.(94-96)CCG>CCA	p.P32P		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	32					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						TCTCTTCCTCCGGACCTTCGG	0.647													T	21494212	C	T	21494212	2	4	160	1	0	0	0	0	0	0	0	1	10450	639	23	1		1	NKX2-2	20	21494212	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	165321	21494212	41531308	1066	87952											
ZNF341	84905	broad.mit.edu	37	chr20	32349702	32349702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccttccagtgcattgcaTgtggccgtgcctttgcccag	11	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:32349702T>C	uc002wzy.2	+	8	1083	c.1063T>C	c.(1063-1065)TGT>CGT	p.C355R	ZNF341_uc002wzx.2_Missense_Mutation_p.C348R|ZNF341_uc010geq.2_Missense_Mutation_p.C265R|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	355	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GTGCATTGCATGTGGCCGTGC	0.582													C	32349702	T	C	32349702	3	2	160	1	0	0	0	0	1	0	0	0	17854	1464	51	3	1072	3	ZNF341	20	32349702	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	10855490	32349702	30675818	1067	87953											
NCOA6	23054	broad.mit.edu	37	chr20	33345657	33345657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcgaattccctgtggCtgttgctgctgatgttgctg	15	8	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:33345657C>T	uc002xav.2	-	8	3465	c.894G>A	c.(892-894)CAG>CAA	p.Q298Q	NCOA6_uc002xaw.2_Silent_p.Q298Q|NCOA6_uc010gew.1_Silent_p.Q255Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	298	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						TTCCCTGTGGCTGTTGCTGCT	0.413													T	33345657	C	T	33345657	2	4	160	1	0	0	0	0	0	0	0	1	10233	796	28	2		2	NCOA6	20	33345657	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	995955	33345657	29679863	1068	87954											
GGT7	2686	broad.mit.edu	37	chr20	33450619	33450619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccactgctccttacccGcccaggccagaactgtgtgg	9	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:33450619G>A	uc002xay.2	-	3	598	c.555C>T	c.(553-555)GGC>GGT	p.G185G	GGT7_uc002xaz.1_Silent_p.G202G|GGT7_uc002xba.1_Silent_p.G185G	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	185	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						CTCCTTACCCGCCCAGGCCAG	0.597													A	33450619	G	A	33450619	2	1	160	1	0	0	0	0	0	0	0	1	6364	1074	38	1		1	GGT7	20	33450619	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	104962	33450619	29574901	1069	87955											
ACSS2	55902	broad.mit.edu	37	chr20	33509227	33509227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggtggtaggtgcccagCgctgccccatcgtggacacc	14	15	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:33509227C>T	uc002xbd.2	+	11	1493	c.1372C>T	c.(1372-1374)CGC>TGC	p.R458C	ACSS2_uc002xbc.2_Missense_Mutation_p.R363C|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.R471C|ACSS2_uc002xbe.2_Missense_Mutation_p.R166C|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	458					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTGCCCAGCGCTGCCCCAT	0.587													T	33509227	C	T	33509227	3	4	160	1	0	0	0	0	1	0	0	0	189	768	27	1	1457	1	ACSS2	20	33509227	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	58608	33509227	29516293	1070	87956											
GDF5	8200	broad.mit.edu	37	chr20	34025642	34025642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggcacccaacacagtgcAgatgaattccaggtccagcc	11	13	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:34025642A>G	uc002xck.1	-	1	386	c.67T>C	c.(67-69)TGC>CGC	p.C23R	GDF5_uc010gfc.1_Missense_Mutation_p.C23R|GDF5_uc010zvc.1_Missense_Mutation_p.C23R	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	23					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			AACACAGTGCAGATGAATTCC	0.597													G	34025642	A	G	34025642	3	3	160	1	0	0	0	0	1	0	0	0	6316	188	7	3	1446	3	GDF5	20	34025642	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	516415	34025642	28999878	1071	87957											
EPB41L1	2036	broad.mit.edu	37	chr20	34785881	34785881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaactcatccaccgggAtcgagactgggaacgggagc	13	12	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:34785881A>T	uc002xfb.2	+	14	1757	c.1586A>T	c.(1585-1587)GAT>GTT	p.D529V	EPB41L1_uc002xeu.2_Missense_Mutation_p.D455V|EPB41L1_uc010zvo.1_Missense_Mutation_p.D529V|EPB41L1_uc002xev.2_Missense_Mutation_p.D529V|EPB41L1_uc002xew.2_Missense_Mutation_p.D420V|EPB41L1_uc002xex.2_Missense_Mutation_p.D486V|EPB41L1_uc002xey.2_Missense_Mutation_p.D444V|EPB41L1_uc002xez.2_Missense_Mutation_p.D455V|EPB41L1_uc010gfq.2_5'UTR	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	529	Spectrin--actin-binding.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ATCCACCGGGATCGAGACTGG	0.597													T	34785881	A	T	34785881	3	4	160	1	0	0	0	0	1	0	0	0	5152	333	12	5	1636	5	EPB41L1	20	34785881	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	760239	34785881	28239639	1072	87958											
DLGAP4	22839	broad.mit.edu	37	chr20	35064573	35064573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacgcgagacggatgccgCggccgagggccctatcccgt	14	17	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:35064573C>T	uc002xff.2	+	4	1496	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	DLGAP4_uc010zvp.1_Missense_Mutation_p.A354V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	354					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACGGATGCCGCGGCCGAGGGC	0.736													T	35064573	C	T	35064573	3	4	160	1	0	0	0	0	1	0	0	0	4562	768	27	1	1067	1	DLGAP4	20	35064573	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	278692	35064573	27960947	1073	87959											
RBL1	5933	broad.mit.edu	37	chr20	35632262	35632262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaggagagagtggtggaGcatccatctaaaataaccca	11	7	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:35632262G>T	uc002xgi.2	-	21	2958	c.2879C>A	c.(2878-2880)GCT>GAT	p.A960D	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A960D	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	960					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GAGTGGTGGAGCATCCATCTA	0.378													T	35632262	G	T	35632262	3	4	160	1	0	0	0	0	1	0	0	0	13109	971	34	5	344	5	RBL1	20	35632262	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	567689	35632262	27393258	1074	87960											
MAFB	9935	broad.mit.edu	37	chr20	39317104	39317104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtggtggtggtgagcGccgcgaaagctgtcgaagct	18	7	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:39317104G>A	uc002xji.2	-	1	773	c.387C>T	c.(385-387)GGC>GGT	p.G129G		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	129					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				ggtggtgAGCGCCGCGAAAGC	0.587			T	IGH@	MM								A	39317104	G	A	39317104	2	1	160	1	0	0	0	0	0	0	0	1	9158	1074	38	1		1	MAFB	20	39317104	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3684842	39317104	23708416	1075	87961											
EMILIN3	90187	broad.mit.edu	37	chr20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-													ccaaagccgcccactccccaCccccccatgtccaacctcag							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:39990828_39990828AC>A	uc002xjy.1	-	3	1605	c.1381_1381GT>T	c.(1381-1383)tggfs	p.W461fs		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	461						proteinaceous extracellular matrix		p.W461fs*31(2)		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)				CCCACTCCCCACCCCCCCATG	0.642													-	39990829	C	-	39990829	7	5	160	1	0	1	0	1	0	0	0	0	5095	494	18	0	924	0	EMILIN3	20	39990829	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	673725	39990829	23034691	1076	87962											
L3MBTL	26013	broad.mit.edu	37	chr20	42161464	42161464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagctggaggctgttgacCgcatgaacccgtcccttgtc	12	12	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:42161464C>T	uc010zwh.1	+	12	1316	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C	L3MBTL_uc002xkl.2_Missense_Mutation_p.R356C|L3MBTL_uc002xkm.2_Missense_Mutation_p.R356C|L3MBTL_uc010ggl.2_Missense_Mutation_p.R356C|L3MBTL_uc002xkn.1_Missense_Mutation_p.R115C|L3MBTL_uc002xko.2_Missense_Mutation_p.R8C	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	356	MBT 2.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTGTTGACCGCATGAACCC	0.587													T	42161464	C	T	42161464	3	4	160	1	0	0	0	0	1	0	0	0	8591	652	23	1	1100	1	L3MBTL	20	42161464	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2170635	42161464	20864056	1077	87963											
MYBL2	4605	broad.mit.edu	37	chr20	42328520	42328520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcggtacagatctggacGcagtgcgaacaccagagccc	11	14	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:42328520G>A	uc002xlb.1	+	7	1002	c.787G>A	c.(787-789)GCA>ACA	p.A263T	MYBL2_uc010zwj.1_Missense_Mutation_p.A239T|MYBL2_uc002xla.1_Missense_Mutation_p.A263T	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGATCTGGACGCAGTGCGAAC	0.582													A	42328520	G	A	42328520	3	1	160	1	0	0	0	0	1	0	0	0	10010	1087	38	1	813	1	MYBL2	20	42328520	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	167056	42328520	20697000	1078	87964											
KCNK15	60598	broad.mit.edu	37	chr20	43378878	43378878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccagagcctgggcgaacGgctgaacgcggtggtgcggc	17	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:43378878G>A	uc002xmr.2	+	2	456	c.392G>A	c.(391-393)CGG>CAG	p.R131Q		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	131	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CTGGGCGAACGGCTGAACGCG	0.692													A	43378878	G	A	43378878	3	1	160	1	0	0	0	0	1	0	0	0	8062	1116	39	1	398	1	KCNK15	20	43378878	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1050358	43378878	19646642	1079	87965											
MATN4	8785	broad.mit.edu	37	chr20	43927136	43927136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccacaatctggttcacgAagcgcttcactagctcgaag	9	12	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:43927136A>G	uc002xnn.2	-	7	1287	c.1100T>C	c.(1099-1101)TTC>TCC	p.F367S	MATN4_uc002xno.2_Missense_Mutation_p.F326S|MATN4_uc002xnp.2_Missense_Mutation_p.F285S|MATN4_uc010zwr.1_Missense_Mutation_p.F315S|MATN4_uc002xnr.1_Missense_Mutation_p.F367S	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	408	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTGGTTCACGAAGCGCTTCAC	0.617													G	43927136	A	G	43927136	3	3	160	1	0	0	0	0	1	0	0	0	9336	246	9	3	661	3	MATN4	20	43927136	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	548258	43927136	19098384	1080	87966											
CDH22	64405	broad.mit.edu	37	chr20	44845508	44845508	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcattgacgtcggtgactacGatggtgacggtagtggagcc	15	8	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:44845508G>A	uc002xrm.2	-	4	1196	c.795C>T	c.(793-795)ATC>ATT	p.I265I	CDH22_uc010ghk.1_Silent_p.I265I|CDH22_uc002xrn.1_Silent_p.I16I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	265	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CGGTGACTACGATGGTGACGG	0.627													A	44845508	G	A	44845508	2	1	160	1	0	0	0	0	0	0	0	1	3107	1048	37	1		1	CDH22	20	44845508	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	918372	44845508	18180012	1081	87967											
DDX27	55661	broad.mit.edu	37	chr20	47850160	47850160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccggatatttgtgaacaGcaacacagatgtggctccct	10	10	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:47850160G>A	uc002xuh.2	+	11	1341	c.1280G>A	c.(1279-1281)AGC>AAC	p.S427N		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	427						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTGTGAACAGCAACACAGAT	0.557													A	47850160	G	A	47850160	3	1	160	1	0	0	0	0	1	0	0	0	4354	971	34	2	1322	2	DDX27	20	47850160	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3004652	47850160	15175360	1082	87968											
ADNP	23394	broad.mit.edu	37	chr20	49508535	49508535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacatgttcctctgggttatCgttagagattttaggttcaa	9	6	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:49508535C>T	uc002xvt.1	-	5	3061	c.2716G>A	c.(2716-2718)GAT>AAT	p.D906N	ADNP_uc002xvu.1_Missense_Mutation_p.D906N	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	906						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TCTGGGTTATCGTTAGAGATT	0.388													T	49508535	C	T	49508535	3	4	160	1	0	0	0	0	1	0	0	0	323	884	31	1	596	1	ADNP	20	49508535	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1658375	49508535	13516985	1083	87969											
SALL4	57167	broad.mit.edu	37	chr20	50418891	50418891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgcggctgctgctcGccctggtcctcctccgagtt	12	16	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:50418891G>A	uc002xwh.3	-	1	158	c.57C>T	c.(55-57)GGC>GGT	p.G19G	SALL4_uc010gii.2_Silent_p.G19G|SALL4_uc002xwi.3_Silent_p.G19G	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	19					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GCTGCTGCTCGCCCTGGTCCT	0.587													A	50418891	G	A	50418891	2	1	160	1	0	0	0	0	0	0	0	1	13813	1074	38	1		1	SALL4	20	50418891	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	910356	50418891	12606629	1084	87970											
CTCFL	140690	broad.mit.edu	37	chr20	56099127	56099127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacgctcggcctccaactcActagggctccgatggtcttt	10	14	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:56099127A>C	uc010gix.1	-	1	797	c.135T>G	c.(133-135)AGT>AGG	p.S45R	CTCFL_uc010giw.1_Missense_Mutation_p.S45R|CTCFL_uc002xym.2_Missense_Mutation_p.S45R|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.S45R|CTCFL_uc010gjb.1_Missense_Mutation_p.S45R|CTCFL_uc010gjc.1_Missense_Mutation_p.S45R|CTCFL_uc010gjd.1_Missense_Mutation_p.S45R|CTCFL_uc010gje.2_Missense_Mutation_p.S45R|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.S45R|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.S45R|CTCFL_uc010gjk.1_Missense_Mutation_p.S45R|CTCFL_uc010gjl.1_Missense_Mutation_p.S45R	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	45					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			ovary(2)|large_intestine(1)|skin(1)	4	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)			CCTCCAACTCACTAGGGCTCC	0.562													C	56099127	A	C	56099127	3	2	160	1	0	0	0	0	1	0	0	0	4001	156	6	5	1896	5	CTCFL	20	56099127	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	5680236	56099127	6926393	1085	87971											
ZNF831	128611	broad.mit.edu	37	chr20	57768587	57768587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctggaagcaaccagagcCtgtgagcgcagagaccccag	13	13	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:57768587C>A	uc002yan.2	+	1	2513	c.2513C>A	c.(2512-2514)CCT>CAT	p.P838H		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	838						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CAACCAGAGCCTGTGAGCGCA	0.637													A	57768587	C	A	57768587	3	1	160	1	0	0	0	0	1	0	0	0	18182	681	24	5	2515	5	ZNF831	20	57768587	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1669460	57768587	5256933	1086	87972											
LAMA5	3911	broad.mit.edu	37	chr20	60886128	60886128	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgggagcttcgcgggaGgacgtgcatggagagactgg	19	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:60886128G>T	uc002ycq.2	-	74	10178	c.10111C>A	c.(10111-10113)CTC>ATC	p.L3371I		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3371	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCGCGGGAGGACGTGCATG	0.682													T	60886128	G	T	60886128	3	4	160	1	0	0	0	0	1	0	0	0	8609	1000	35	5	1004	5	LAMA5	20	60886128	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	3117541	60886128	2139392	1087	87973											
COL20A1	57642	broad.mit.edu	37	chr20	61950424	61950424	+	Frame_Shift_Del	DEL	C	C	-													ccacagtgacgtctacccagCccccctacctccagagcaca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:61950423_61950423GC>G	uc011aau.2	+	21	2777	c.2677_2677GC>G	c.(2677-2679)gccfs	p.A893fs	COL20A1_uc011aav.2_Frame_Shift_Del_p.A714fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	893	TSP N-terminal.				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)					CGTCTACCCAGCCCCCCTACC	0.647													-	61950424	C	-	61950424	7	5	160	1	0	1	0	1	0	0	0	0	3679	739	26	0	2760	0	COL20A1	20	61950424	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	1064296	61950424	1075096	1088	87974											
CHRNA4	1137	broad.mit.edu	37	chr20	61981147	61981147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtggcgctcggggacaccGaagagggctccttcttgcat	14	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:61981147G>A	uc002yes.2	-	5	1794	c.1616C>T	c.(1615-1617)TCG>TTG	p.S539L	CHRNA4_uc002yet.1_Missense_Mutation_p.S363L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.S468L|CHRNA4_uc002yev.1_Missense_Mutation_p.S363L|CHRNA4_uc010gkf.1_Missense_Mutation_p.S363L	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	539	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGGGGACACCGAAGAGGGCTC	0.716													A	61981147	G	A	61981147	3	1	160	1	0	0	0	0	1	0	0	0	3385	1059	37	1	275	1	CHRNA4	20	61981147	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	30723	61981147	1044373	1089	87975											
SOX18	54345	broad.mit.edu	37	chr20	62679699	62679699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtactggtcgaactcGgtgaggtccacgtcggccca	14	11	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:62679699G>A	uc002yhs.2	-	2	1085	c.975C>T	c.(973-975)ACC>ACT	p.T325T		NM_018419	NP_060889	P35713	SOX18_HUMAN	SRY-box 18	325	Sox C-terminal.				angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGTCGAACTCGGTGAGGTCCA	0.756													A	62679699	G	A	62679699	2	1	160	1	0	0	0	0	0	0	0	1	14948	1103	39	1		1	SOX18	20	62679699	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	698552	62679699	345821	1090	87976											
SAMSN1	64092	broad.mit.edu	37	chr21	15889305	15889305	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttttacccaaaccgcctcCattatttgaagttttacttt	3	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:15889305C>A	uc002yju.1	-	3	269	c.187G>T	c.(187-189)GGA>TGA	p.G63*	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.G131*	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	63					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		AAACCGCCTCCATTATTTGAA	0.333													A	15889305	C	A	15889305	4	1	160	1	0	0	0	0	0	1	0	0	13830	603	21	5	958	5	SAMSN1	21	15889305	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		15889305	32240590	1091	87977											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210316	28210316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaggtcgaagggcattgCccacagtaagaacctggatg	12	8	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:28210316C>T	uc002ymf.2	-	9	2941	c.2486G>A	c.(2485-2487)GGC>GAC	p.G829D		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		AAGGGCATTGCCCACAGTAAG	0.463													T	28210316	C	T	28210316	3	4	160	1	0	0	0	0	1	0	0	0	255	739	26	2	421	2	ADAMTS1	21	28210316	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	12321011	28210316	19919579	1092	87978											
TIAM1	7074	broad.mit.edu	37	chr21	32492843	32492843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgactatccagggttttcCggcctctttcccgctgactg	10	14	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:32492843C>T	uc002yow.1	-	29	5091	c.4619G>A	c.(4618-4620)CGG>CAG	p.R1540Q	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1480Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1540					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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CAGGGTTTTCCGGCCTCTTTC	0.602													T	32492843	C	T	32492843	3	4	160	1	0	0	0	0	1	0	0	0	15887	652	23	1	160	1	TIAM1	21	32492843	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4282527	32492843	15637052	1093	87979											
HUNK	30811	broad.mit.edu	37	chr21	33340634	33340634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatattcagcaggcactggCgaatcgctggcttaatgaga	11	8	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:33340634C>T	uc002yph.2	+	6	1307	c.947C>T	c.(946-948)GCG>GTG	p.A316V		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	316	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CAGGCACTGGCGAATCGCTGG	0.522													T	33340634	C	T	33340634	3	4	160	1	0	0	0	0	1	0	0	0	7458	768	27	1	969	1	HUNK	21	33340634	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	847791	33340634	14789261	1094	87980											
SLC5A3	6526	broad.mit.edu	37	chr21	35467872	35467872	+	Frame_Shift_Del	DEL	T	T	-													ggccataggattcaggtctaTtttgcagccttgtctctgat							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:35467871_35467871AT>A	uc021wir.1	+	0	374	c.374_374AT>A	c.(373-375)tatfs	p.Y125fs	SLC5A3_uc002yto.3_Frame_Shift_Del_p.Y125fs|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	125						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						ATTCAGGTCTATTTTGCAGCC	0.453													-	35467872	T	-	35467872	7	5	160	1	0	1	0	1	0	0	0	0	14666	1500	52	0	377	0	SLC5A3	21	35467872	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	2127238	35467872	12662023	1095	87981											
ETS2	2114	broad.mit.edu	37	chr21	40186743	40186743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacaggtatgccagtggCttctctgggccaccaatgag	12	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:40186743C>T	uc002yxg.2	+	5	539	c.343C>T	c.(343-345)CTT>TTT	p.L115F	ETS2_uc002yxf.2_Missense_Mutation_p.L255F	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	115	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGCCAGTGGCTTCTCTGGGC	0.502													T	40186743	C	T	40186743	3	4	160	1	0	0	0	0	1	0	0	0	5276	797	28	2	357	2	ETS2	21	40186743	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4718871	40186743	7943152	1096	87982											
DSCAM	1826	broad.mit.edu	37	chr21	41385177	41385177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgggatgggctccaggacCgtggggcgcttcagggtccg	18	11	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:41385177C>T	uc002yyq.1	-	33	6275	c.5823G>A	c.(5821-5823)ACG>ACA	p.T1941T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1941	Cytoplasmic (Potential).			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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCCAGGACCGTGGGGCGCT	0.627													T	41385177	C	T	41385177	2	4	160	1	0	0	0	0	0	0	0	1	4768	639	23	1		1	DSCAM	21	41385177	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1198434	41385177	6744718	1097	87983											
DSCAM	1826	broad.mit.edu	37	chr21	41414420	41414420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaggtcagactgtccGtgtactcatttgtccctgcc	11	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:41414420G>A	uc002yyq.1	-	32	6016	c.5564C>T	c.(5563-5565)ACG>ATG	p.T1855M	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1855	Cytoplasmic (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGACTGTCCGTGTACTCATT	0.527													A	41414420	G	A	41414420	3	1	160	1	0	0	0	0	1	0	0	0	4768	1145	40	1	482	1	DSCAM	21	41414420	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	29243	41414420	6715475	1098	87984											
RIPK4	54101	broad.mit.edu	37	chr21	43161767	43161767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagtccacctcgttgaccGaggcgttcttctccaacagc	8	15	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:43161767G>A	uc002yzn.1	-	8	1634	c.1586C>T	c.(1585-1587)TCG>TTG	p.S529L		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	529						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CTCGTTGACCGAGGCGTTCTT	0.632													A	43161767	G	A	43161767	3	1	160	1	0	0	0	0	1	0	0	0	13383	1059	37	1	772	1	RIPK4	21	43161767	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1747347	43161767	4968128	1099	87985											
ZNF295	49854	broad.mit.edu	37	chr21	43412134	43412134	+	Frame_Shift_Del	DEL	T	T	-													gggtttttctcctggatgcaTttttatatgctgcttaaatt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:43412133_43412133AT>A	uc021wjo.1	-	0	2072	c.2072_2072AT>T	c.(2071-2073)atgfs	p.M691fs	ZNF295_uc002yzz.4_Intron|ZNF295_uc002zab.4_Frame_Shift_Del_p.M691fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.M691fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.M691fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	691					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TCCTGGATGCATTTTTATATG	0.418													-	43412134	T	-	43412134	7	5	160	1	0	1	0	1	0	0	0	0	17824	1493	52	0	1133	0	ZNF295	21	43412134	Frame_Shift_Del	DEL	T	TCGA-CD-A4MI-01A-21D-A25D-08	250367	43412134	4717761	1100	87986											
ZNF295	49854	broad.mit.edu	37	chr21	43412172	43412172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgagagagaaagcggtacGcttttccgcagtaagtacaa	11	7	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:43412172G>A	uc002zab.3	-	3	2247	c.2033C>T	c.(2032-2034)GCG>GTG	p.A678V	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.A678V|ZNF295_uc002zaa.3_Missense_Mutation_p.A678V	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	678	C2H2-type 3.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AAAGCGGTACGCTTTTCCGCA	0.433													A	43412172	G	A	43412172	3	1	160	1	0	0	0	0	1	0	0	0	17824	1087	38	1	1171	1	ZNF295	21	43412172	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	38	43412172	4717723	1101	87987											
TRPM2	7226	broad.mit.edu	37	chr21	45811232	45811232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagctcttcctggagaaCggggtgcagctgaaggagtt	16	7	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:45811232C>T	uc002zet.1	+	12	1731	c.1518C>T	c.(1516-1518)AAC>AAT	p.N506N	TRPM2_uc002zeu.1_Silent_p.N506N|TRPM2_uc002zew.1_Silent_p.N506N|TRPM2_uc010gpt.1_Silent_p.N506N|TRPM2_uc002zex.1_Silent_p.N292N|TRPM2_uc002zey.1_Silent_p.N19N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	506	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCCTGGAGAACGGGGTGCAGC	0.557													T	45811232	C	T	45811232	2	4	160	1	0	0	0	0	0	0	0	1	16583	535	19	1		1	TRPM2	21	45811232	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2399060	45811232	2318663	1102	87988											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047482	46047482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaccagccagcttgctgtGcctcttcctcctgccagccg	9	18	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:46047482G>A	uc002zfp.3	+	1	443	c.394G>A	c.(394-396)GCC>ACC	p.A132T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	132	25 X 5 AA repeats of C-C-X(3).|11.					keratin filament					0						agcttgctgtgcctcttcctc	0.159													A	46047482	G	A	46047482	3	1	160	1	0	0	0	0	1	0	0	0	8516	1319	46	2	396	2	KRTAP10-9	21	46047482	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	236250	46047482	2082413	1103	87989											
COL6A1	1291	broad.mit.edu	37	chr21	47401840	47401840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggatgagccggagaccCcgagggccgtggccttccag	16	14	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:47401840C>A	uc002zhu.1	+	1	178	c.76C>A	c.(76-78)CCG>ACG	p.P26T		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	26	N-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCGGAGACCCCGAGGGCCGT	0.721													A	47401840	C	A	47401840	3	1	160	1	0	0	0	0	1	0	0	0	3699	623	22	5	78	5	COL6A1	21	47401840	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1354358	47401840	728055	1104	87990											
COL6A2	1292	broad.mit.edu	37	chr21	47531946	47531946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggacacctcggagagcGtcaccatgcagtcccccacg	11	16	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:47531946G>A	uc002zia.1	+	3	251	c.169G>A	c.(169-171)GTC>ATC	p.V57I	COL6A2_uc002zhy.1_Missense_Mutation_p.V57I|COL6A2_uc002zhz.1_Missense_Mutation_p.V57I|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	57	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTCGGAGAGCGTCACCATGCA	0.602													A	47531946	G	A	47531946	3	1	160	1	0	0	0	0	1	0	0	0	3700	1145	40	1	175	1	COL6A2	21	47531946	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	130106	47531946	597949	1105	87991											
DIP2A	23181	broad.mit.edu	37	chr21	47987341	47987341	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctggatgggctagagCaggatgccctggacctggtg	18	8	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:47987341C>T	uc002zjo.2	+	38	4705	c.4522C>T	c.(4522-4524)CAG>TAG	p.Q1508*	DIP2A_uc011afz.1_Nonsense_Mutation_p.Q1504*|DIP2A_uc002zjs.2_Nonsense_Mutation_p.Q188*|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1508					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		TGGGCTAGAGCAGGATGCCCT	0.612													T	47987341	C	T	47987341	4	4	160	1	0	0	0	0	0	1	0	0	4527	711	25	2	4785	2	DIP2A	21	47987341	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	455395	47987341	142554	1106	87992											
CECR6	27439	broad.mit.edu	37	chr22	17601107	17601107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgcccgctgccgcggccGcccccaggccgccccccgcg	12	25	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:17601107G>A	uc002zmb.2	-	1	1107	c.911C>T	c.(910-912)GCG>GTG	p.A304V	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	304	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		tgccgcggccgcccccaggcc	0.478													A	17601107	G	A	17601107	3	1	160	1	0	0	0	0	1	0	0	0	3208	1087	38	1	829	1	CECR6	22	17601107	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		17601107	33703459	1107	87993											
TSSK2	23617	broad.mit.edu	37	chr22	19119328	19119328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccaccgggacctcaagtGcgagaaccttctcctcgaca	9	16	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19119328G>A	uc002zow.2	+	1	1008	c.416G>A	c.(415-417)TGC>TAC	p.C139Y	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	139	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					GACCTCAAGTGCGAGAACCTT	0.592													A	19119328	G	A	19119328	3	1	160	1	0	0	0	0	1	0	0	0	16666	1319	46	2	418	2	TSSK2	22	19119328	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	1518221	19119328	32185238	1108	87994											
HIRA	7290	broad.mit.edu	37	chr22	19340920	19340920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagacgaggagccaatggCggtactcgtggctggactgc	16	10	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19340920C>T	uc002zpf.1	-	23	3027	c.2807G>A	c.(2806-2808)CGC>CAC	p.R936H	HIRA_uc011agx.1_Missense_Mutation_p.R802H|HIRA_uc010grn.1_Missense_Mutation_p.R729H|HIRA_uc010gro.1_Missense_Mutation_p.R892H|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	936	Interaction with histone H4.				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			ovary(1)	1	Colorectal(54;0.0993)					GAGCCAATGGCGGTACTCGTG	0.622													T	19340920	C	T	19340920	3	4	160	1	0	0	0	0	1	0	0	0	7120	768	27	1	258	1	HIRA	22	19340920	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	221592	19340920	31963646	1109	87995											
CDC45	8318	broad.mit.edu	37	chr22	19492925	19492925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtcctgcagcgccacGtttcccgccacaaccaccgg	10	17	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19492925G>A	uc002zpr.2	+	10	821	c.745G>A	c.(745-747)GTT>ATT	p.V249I	CDC45_uc011agz.1_Missense_Mutation_p.V244I|CDC45_uc011aha.1_Missense_Mutation_p.V281I|CDC45_uc002zps.2_Missense_Mutation_p.V249I|CDC45_uc002zpt.2_Missense_Mutation_p.V203I	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	249					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			lung(1)	1						GCAGCGCCACGTTTCCCGCCA	0.542													A	19492925	G	A	19492925	3	1	160	1	0	0	0	0	1	0	0	0	3081	1145	40	1	883	1	CDC45	22	19492925	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	152005	19492925	31811641	1110	87996											
GNB1L	54584	broad.mit.edu	37	chr22	19808148	19808148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcccctggggcagcGtctgcagccaggtcacacac	14	16	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19808148G>A	uc002zqe.1	-	3	621	c.227C>T	c.(226-228)ACG>ATG	p.T76M	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.T76M	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	76	WD 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CTGGGGCAGCGTCTGCAGCCA	0.652													A	19808148	G	A	19808148	3	1	160	1	0	0	0	0	1	0	0	0	6516	1145	40	1	776	1	GNB1L	22	19808148	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	315223	19808148	31496418	1111	87997											
COMT	1312	broad.mit.edu	37	chr22	19956195	19956195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcgttcctggaatacaGggaggtggtggacggcctgg	16	9	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19956195G>T	uc002zqu.2	+	6	1001	c.752G>T	c.(751-753)AGG>ATG	p.R251M	COMT_uc002zqv.2_Missense_Mutation_p.R251M|COMT_uc002zqw.2_Missense_Mutation_p.R251M|COMT_uc011ahd.1_Missense_Mutation_p.R251M|COMT_uc002zqx.2_Missense_Mutation_p.R251M	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	251					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTGGAATACAGGGAGGTGGTG	0.647													T	19956195	G	T	19956195	3	4	160	1	0	0	0	0	1	0	0	0	3725	1000	35	5	766	5	COMT	22	19956195	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	148047	19956195	31348371	1112	87998											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127121	20127121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttctaccgcccgccgcGctgctcccactgcagcgtct	8	21	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:20127121G>A	uc002zrq.2	+	3	453	c.347G>A	c.(346-348)CGC>CAC	p.R116H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R116H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R14H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	116	Cytoplasmic (Potential).|DHHC-type.					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CGCCCGCCGCGCTGCTCCCAC	0.657													A	20127121	G	A	20127121	3	1	160	1	0	0	0	0	1	0	0	0	17618	1087	38	1	357	1	ZDHHC8	22	20127121	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	170926	20127121	31177445	1113	87999											
MED15	51586	broad.mit.edu	37	chr22	20920849	20920849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGgctttgcaggcccagccacc	12	16	0	0	rs361923		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:20920849G>T	uc002zsp.2	+	7	866	c.786G>T	c.(784-786)CAG>CAT	p.Q262H	MED15_uc002zso.2_Missense_Mutation_p.Q191H|MED15_uc002zsq.2_Missense_Mutation_p.Q262H|MED15_uc010gso.2_Missense_Mutation_p.Q262H|MED15_uc002zsr.2_Missense_Mutation_p.Q236H|MED15_uc011ahs.1_Missense_Mutation_p.Q236H|MED15_uc002zss.2_Missense_Mutation_p.Q181H|MED15_uc011ahu.1_Translation_Start_Site	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			agcagcagcagGCTTTGCAGG	0.333													T	20920849	G	T	20920849	3	4	160	1	0	0	0	0	1	0	0	0	9433	991	35	5	812	5	MED15	22	20920849	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	793728	20920849	30383717	1114	88000											
HIC2	23119	broad.mit.edu	37	chr22	21799216	21799216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttgcccacaggtggtGcgcgtgggcagggcgcgggg	20	10	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:21799216G>A	uc002zur.3	+	3	262	c.32G>A	c.(31-33)TGC>TAC	p.C11Y	HIC2_uc002zus.3_Missense_Mutation_p.C11Y	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	11					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CACAGGTGGTGCGCGTGGGCA	0.672													A	21799216	G	A	21799216	3	1	160	1	0	0	0	0	1	0	0	0	7102	1319	46	2	38	2	HIC2	22	21799216	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	878367	21799216	29505350	1115	88001											
SMARCB1	6598	broad.mit.edu	37	chr22	24167550	24167550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtttgtcaccaccatcGcatacagcatccggggacag	12	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:24167550G>A	uc002zyb.2	+	7	1141	c.934G>A	c.(934-936)GCA>ACA	p.A312T	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.A303T|SMARCB1_uc002zyd.2_Missense_Mutation_p.A321T	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	312	Interaction with PPP1R15A.|2.|2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.L266_*386del(1)|p.A312fs*9(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CACCACCATCGCATACAGCAT	0.557			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				A	24167550	G	A	24167550	3	1	160	1	0	0	0	0	1	0	0	0	14774	1087	38	1	960	1	SMARCB1	22	24167550	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	2368334	24167550	27137016	1116	88002											
ZNRF3	84133	broad.mit.edu	37	chr22	29440829	29440829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtcgtggtctccttggTctgcctcatcctccttgtca	8	15	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:29440829T>C	uc003aeg.2	+	5	560	c.395T>C	c.(394-396)GTC>GCC	p.V132A	ZNRF3_uc003aeh.1_Missense_Mutation_p.V132A	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	232	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						GTCTCCTTGGTCTGCCTCATC	0.532													C	29440829	T	C	29440829	3	2	160	1	0	0	0	0	1	0	0	0	18210	1667	58	3	409	3	ZNRF3	22	29440829	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	5273279	29440829	21863737	1117	88003											
EMID1	129080	broad.mit.edu	37	chr22	29621187	29621187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatgcggcggatggcgcttCggcccacagccttctcaggt	13	15	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:29621187C>T	uc003aen.2	+	4	454	c.379C>T	c.(379-381)CGG>TGG	p.R127W	EMID1_uc003aem.2_Missense_Mutation_p.R129W|EMID1_uc003aeo.2_Missense_Mutation_p.R129W|EMID1_uc003aep.2_Missense_Mutation_p.R129W	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	127						collagen					0						GATGGCGCTTCGGCCCACAGC	0.632													T	29621187	C	T	29621187	3	4	160	1	0	0	0	0	1	0	0	0	5091	875	31	1	399	1	EMID1	22	29621187	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	180358	29621187	21683379	1118	88004											
GAS2L1	10634	broad.mit.edu	37	chr22	29706822	29706822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctctccccgcagctcatCgcccaccccagccgagggtc	8	22	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:29706822C>T	uc003afa.1	+	5	1043	c.844C>T	c.(844-846)CGC>TGC	p.R282C	GAS2L1_uc010gvm.1_Missense_Mutation_p.R282C|GAS2L1_uc003afb.1_Missense_Mutation_p.R282C|GAS2L1_uc003afc.1_Missense_Mutation_p.R282C|GAS2L1_uc003afd.1_Missense_Mutation_p.R282C|GAS2L1_uc003afe.1_Missense_Mutation_p.R282C	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	282					cell cycle arrest	cytoplasm|cytoskeleton					0						CGCAGCTCATCGCCCACCCCA	0.687													T	29706822	C	T	29706822	3	4	160	1	0	0	0	0	1	0	0	0	6246	884	31	1	858	1	GAS2L1	22	29706822	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	85635	29706822	21597744	1119	88005											
CCDC157	550631	broad.mit.edu	37	chr22	30766894	30766894	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggcggaggaggatgagCagtgcctgtctgagtgggag	20	6	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:30766894C>T	uc011aku.1	+	5	1660	c.1000C>T	c.(1000-1002)CAG>TAG	p.Q334*	CCDC157_uc011akv.1_Nonsense_Mutation_p.Q334*	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	334	Potential.									central_nervous_system(1)	1						GGAGGATGAGCAGTGCCTGTC	0.657													T	30766894	C	T	30766894	4	4	160	1	0	0	0	0	0	1	0	0	2789	711	25	2	1010	2	CCDC157	22	30766894	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1060072	30766894	20537672	1120	88006											
SEC14L3	266629	broad.mit.edu	37	chr22	30857641	30857641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgagtcttcacctggtccCgcacgtacatggacttgggg	12	12	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:30857641C>T	uc003ahy.2	-	10	901	c.812G>A	c.(811-813)CGG>CAG	p.R271Q	SEC14L3_uc003ahz.2_Missense_Mutation_p.R194Q|SEC14L3_uc003aia.2_Missense_Mutation_p.R212Q|SEC14L3_uc003aib.2_Missense_Mutation_p.R212Q	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	271						integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	CACCTGGTCCCGCACGTACAT	0.443													T	30857641	C	T	30857641	3	4	160	1	0	0	0	0	1	0	0	0	13983	652	23	1	402	1	SEC14L3	22	30857641	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	90747	30857641	20446925	1121	88007											
DUSP18	150290	broad.mit.edu	37	chr22	31059662	31059662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcacagggcagctgagCggctcacaccagcagcacag	14	14	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:31059662C>T	uc003aiu.2	-	2	830	c.329G>A	c.(328-330)CGC>CAC	p.R110H	SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.R110H	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	110	Tyrosine-protein phosphatase.			R->K: Abolishes most of in vitro phosphatase activity.		cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						GGCAGCTGAGCGGCTCACACC	0.592													T	31059662	C	T	31059662	3	4	160	1	0	0	0	0	1	0	0	0	4817	768	27	1	241	1	DUSP18	22	31059662	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	202021	31059662	20244904	1122	88008											
MORC2	22880	broad.mit.edu	37	chr22	31324132	31324132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcccgggagtcagcAcggctctggtaggaattgca	15	11	2	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:31324132A>G	uc003aje.1	-	26	4082	c.2718T>C	c.(2716-2718)CGT>CGC	p.R906R		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	968	Potential.						ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						GGGAGTCAGCACGGCTCTGGT	0.567													G	31324132	A	G	31324132	2	3	160	1	0	0	0	0	0	0	0	1	9702	146	6	3		3	MORC2	22	31324132	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	264470	31324132	19980434	1123	88009											
SFI1	9814	broad.mit.edu	37	chr22	32000924	32000924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccagcacaacaggcagCtgctgcggtgagtctcccgg	14	13	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:32000924C>T	uc003ale.2	+	20	2440	c.2047C>T	c.(2047-2049)CTG>TTG	p.L683L	SFI1_uc003ald.1_Silent_p.L659L|SFI1_uc003alf.2_Silent_p.L652L|SFI1_uc003alg.2_Silent_p.L601L|SFI1_uc011alp.1_Silent_p.L601L|SFI1_uc011alq.1_Silent_p.L628L|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	683					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CAACAGGCAGCTGCTGCGGTG	0.637													T	32000924	C	T	32000924	2	4	160	1	0	0	0	0	0	0	0	1	14156	796	28	2		2	SFI1	22	32000924	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	676792	32000924	19303642	1124	88010											
SLC5A4	6527	broad.mit.edu	37	chr22	32628914	32628914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgcggctgatcatcccCggcatcaccatgaggaacat	11	12	2	2	rs143604627		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:32628914C>T	uc003ami.2	-	9	995	c.993G>A	c.(991-993)CCG>CCA	p.P331P		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	331	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						TGATCATCCCCGGCATCACCA	0.473													T	32628914	C	T	32628914	2	4	160	1	0	0	0	0	0	0	0	1	14667	639	23	1		1	SLC5A4	22	32628914	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	627990	32628914	18675652	1125	88011											
TOM1	10043	broad.mit.edu	37	chr22	35743188	35743188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaagatgatgacatgCtgtttgccttatgagtgtgg	14	4	0	5			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:35743188C>T	uc003ann.2	+	15	1590	c.1465C>T	c.(1465-1467)CTG>TTG	p.L489L	TOM1_uc011ami.1_Silent_p.L457L|TOM1_uc011amj.1_Silent_p.L332L|TOM1_uc003ans.2_Silent_p.L332L|TOM1_uc011amk.1_Silent_p.L451L|TOM1_uc003anp.2_Silent_p.L490L|TOM1_uc011aml.1_Silent_p.L444L|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.L483L|TOM1_uc003anr.2_Silent_p.L332L	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	489					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						TGATGACATGCTGTTTGCCTT	0.637													T	35743188	C	T	35743188	2	4	160	1	0	0	0	0	0	0	0	1	16348	796	28	2		2	TOM1	22	35743188	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3114274	35743188	15561378	1126	88012											
MYH9	4627	broad.mit.edu	37	chr22	36700098	36700098	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgacgtcggtgatcTtcaggtctcgctcctcctcc	9	14	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:36700098T>G	uc003apg.2	-	19	2564	c.2333A>C	c.(2332-2334)AAG>ACG	p.K778T	MYH9_uc003aph.1_Missense_Mutation_p.K642T	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	778	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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GTCGGTGATCTTCAGGTCTCG	0.617			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				G	36700098	T	G	36700098	3	3	160	1	0	0	0	0	1	0	0	0	10042	1609	56	5	3641	5	MYH9	22	36700098	Missense_Mutation	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	956910	36700098	14604468	1127	88013											
APOBEC3D	140564	broad.mit.edu	37	chr22	39418942	39418942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaaaataaagaggggcCgctcaaatctcctttgggac	11	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:39418942C>T	uc011aoe.1	+	2	187	c.133C>T	c.(133-135)CGC>TGC	p.R45C	APOBEC3D_uc011aod.1_Missense_Mutation_p.R45C|APOBEC3D_uc011aof.1_Missense_Mutation_p.R45C|APOBEC3D_uc003awu.3_Missense_Mutation_p.R45C|APOBEC3D_uc003awt.3_Missense_Mutation_p.R45C|APOBEC3D_uc010gxu.2_5'UTR	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	45					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					AAAGAGGGGCCGCTCAAATCT	0.498													T	39418942	C	T	39418942	3	4	160	1	0	0	0	0	1	0	0	0	792	652	23	1	139	1	APOBEC3D	22	39418942	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	2718844	39418942	11885624	1128	88014											
SMCR7L	54471	broad.mit.edu	37	chr22	39909948	39909948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtatgacaacctgtggCggctgagcctgcgtcccgcg	13	15	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:39909948C>T	uc003axx.2	+	6	1510	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	SMCR7L_uc003axw.2_Missense_Mutation_p.R338W|SMCR7L_uc010gxz.1_Missense_Mutation_p.R160W|SMCR7L_uc003axy.2_Missense_Mutation_p.R160W	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	338						integral to membrane|mitochondrion		p.R338Q(1)		central_nervous_system(1)	1	Melanoma(58;0.04)					CAACCTGTGGCGGCTGAGCCT	0.602											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	39909948	C	T	39909948	3	4	160	1	0	0	0	0	1	0	0	0	14791	759	27	1	1026	1	SMCR7L	22	39909948	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	491006	39909948	11394618	1129	88015											
SGSM3	27352	broad.mit.edu	37	chr22	40801789	40801789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgaccagcgggtcctgcGccacctcattgtccagtacc	10	16	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:40801789G>A	uc003ayu.1	+	8	964	c.755G>A	c.(754-756)CGC>CAC	p.R252H	SGSM3_uc010gyc.1_Missense_Mutation_p.R252H|SGSM3_uc011aos.1_Missense_Mutation_p.R185H|SGSM3_uc011aot.1_Missense_Mutation_p.R189H|SGSM3_uc010gyd.1_Missense_Mutation_p.R252H	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	252	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						CGGGTCCTGCGCCACCTCATT	0.617													A	40801789	G	A	40801789	3	1	160	1	0	0	0	0	1	0	0	0	14224	1087	38	1	781	1	SGSM3	22	40801789	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	891841	40801789	10502777	1130	88016											
RBX1	9978	broad.mit.edu	37	chr22	41360110	41360110	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagtgtactgtcgcatggGgagtctgtaacgtaaggaag	15	5	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:41360110G>T	uc003azk.2	+	3	235	c.217G>T	c.(217-219)GGA>TGA	p.G73*	XPNPEP3_uc011aoy.1_RNA	NM_014248	NP_055063	P62877	RBX1_HUMAN	ring-box 1	73	RING-type.				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			skin(1)	1						TGTCGCATGGGGAGTCTGTAA	0.458													T	41360110	G	T	41360110	4	4	160	1	0	0	0	0	0	1	0	0	13165	1233	43	5	227	5	RBX1	22	41360110	Nonsense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	558321	41360110	9944456	1131	88017											
L3MBTL2	83746	broad.mit.edu	37	chr22	41625570	41625570	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcccgcccactaagacgCgacccctcagacaggggtcc	10	17	1	2	rs151099443		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:41625570C>T	uc003azo.2	+	16	1969	c.1915C>T	c.(1915-1917)CGA>TGA	p.R639*	L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_3'UTR|CHADL_uc010gyj.2_3'UTR	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	639					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						CACTAAGACGCGACCCCTCAG	0.532													T	41625570	C	T	41625570	4	4	160	1	0	0	0	0	0	1	0	0	8592	760	27	1	1977	1	L3MBTL2	22	41625570	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	265460	41625570	9678996	1132	88018											
PMM1	5372	broad.mit.edu	37	chr22	41982188	41982188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaggcggccacctcagGgtcaattttctatgggggga	15	9	3	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:41982188G>A	uc003bal.2	-	2	159	c.97C>T	c.(97-99)CCT>TCT	p.P33S		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	33					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			ovary(1)	1						GCCACCTCAGGGTCAATTTTC	0.557													A	41982188	G	A	41982188	3	1	160	1	0	0	0	0	1	0	0	0	12136	1232	43	4	719	4	PMM1	22	41982188	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	356618	41982188	9322378	1133	88019											
SREBF2	6721	broad.mit.edu	37	chr22	42289201	42289201	+	Frame_Shift_Del	DEL	C	C	-													tccctgcgctggctctgccaCcccctgggccagaagttttt							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:42289200_42289200AC>A	uc003bbi.3	+	11	2457	c.2288_2288AC>A	c.(2287-2289)cacfs	p.H763fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	763					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	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						TGGCTCTGCCACCCCCTGGGC	0.597													-	42289201	C	-	42289201	7	5	160	1	0	1	0	1	0	0	0	0	15141	506	18	0	2335	0	SREBF2	22	42289201	Frame_Shift_Del	DEL	C	TCGA-CD-A4MI-01A-21D-A25D-08	307013	42289201	9015365	1134	88020											
SEPT3	55964	broad.mit.edu	37	chr22	42383721	42383721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgcatccctgacactcGtgtccactgctgcctttact	7	15	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:42383721G>A	uc003bbr.3	+	5	647	c.509G>A	c.(508-510)CGT>CAT	p.R170H	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.R170H|SEPT3_uc010gyr.2_Missense_Mutation_p.R106H|SEPT3_uc011apj.1_Missense_Mutation_p.R106H|SEPT3_uc010gys.2_Translation_Start_Site	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	170					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						CCTGACACTCGTGTCCACTGC	0.517													A	42383721	G	A	42383721	3	1	160	1	0	0	0	0	1	0	0	0	14065	1145	40	1	527	1	SEPT3	22	42383721	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	94520	42383721	8920845	1135	88021											
FBLN1	2192	broad.mit.edu	37	chr22	45923783	45923783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccagggccagagctgCgagtacagcctcatggttgg	15	12	1	1	rs144410933	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:45923783C>T	uc003bgj.1	+	4	525	c.378C>T	c.(376-378)TGC>TGT	p.C126C	FBLN1_uc003bgg.1_Silent_p.C126C|FBLN1_uc003bgh.2_Silent_p.C126C|FBLN1_uc010gzz.2_Silent_p.C164C|FBLN1_uc003bgi.1_Silent_p.C126C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	126	Anaphylatoxin-like 3.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCAGAGCTGCGAGTACAGCC	0.622													T	45923783	C	T	45923783	2	4	160	1	0	0	0	0	0	0	0	1	5698	776	27	1		1	FBLN1	22	45923783	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3540062	45923783	5380783	1136	88022											
PKDREJ	10343	broad.mit.edu	37	chr22	46657387	46657387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtgttctcttttacTgaactgatttcaccaacact	6	12	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:46657387T>C	uc003bhh.2	-	1	1833	c.1833A>G	c.(1831-1833)TCA>TCG	p.S611S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	611	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTCTTTTACTGAACTGATTT	0.428													C	46657387	T	C	46657387	2	2	160	1	0	0	0	0	0	0	0	1	11970	1567	55	3		3	PKDREJ	22	46657387	Silent	SNP	T	TCGA-CD-A4MI-01A-21D-A25D-08	733604	46657387	4647179	1137	88023											
TTC38	55020	broad.mit.edu	37	chr22	46681140	46681140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactttattcttccagggCgaatatgaggccgcgctgac	11	10	1	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:46681140C>T	uc003bhi.2	+	9	874	c.798C>T	c.(796-798)GGC>GGT	p.G266G	TTC38_uc011aqx.1_Silent_p.G208G	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	266	TPR 3.						binding			ovary(1)	1						TCTTCCAGGGCGAATATGAGG	0.493													T	46681140	C	T	46681140	2	4	160	1	0	0	0	0	0	0	0	1	16703	755	27	1		1	TTC38	22	46681140	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	23753	46681140	4623426	1138	88024											
CELSR1	9620	broad.mit.edu	37	chr22	46773080	46773080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaccaggctcaggaggaCgaaggccaccagcagggctg	17	12	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:46773080C>T	uc003bhw.1	-	24	7462	c.7462G>A	c.(7462-7464)GTC>ATC	p.V2488I	CELSR1_uc011arc.1_Missense_Mutation_p.V809I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2488	Helical; Name=1; (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		CTCAGGAGGACGAAGGCCACC	0.602													T	46773080	C	T	46773080	3	4	160	1	0	0	0	0	1	0	0	0	3221	536	19	1	1630	1	CELSR1	22	46773080	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	91940	46773080	4531486	1139	88025											
BRD1	23774	broad.mit.edu	37	chr22	50217527	50217527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttgtccagttcctcggCcgacttctcgatgaacttgt	9	13	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50217527C>T	uc003biv.2	-	1	926	c.439G>A	c.(439-441)GCC>ACC	p.A147T	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.A147T|BRD1_uc011arh.1_Missense_Mutation_p.A147T|BRD1_uc003biu.3_Missense_Mutation_p.A147T	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	147					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTTCCTCGGCCGACTTCTCG	0.627													T	50217527	C	T	50217527	3	4	160	1	0	0	0	0	1	0	0	0	1501	739	26	2	2785	2	BRD1	22	50217527	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3444447	50217527	1087039	1140	88026											
MOV10L1	54456	broad.mit.edu	37	chr22	50553620	50553621	+	Frame_Shift_Ins	INS	-	-	G													gatgacagagcctgagcctgINSgggggcttgtccctccaggg							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50553619_50553620T>TG	uc003bjj.3	+	7	1286_1287	c.1203_1204T>TG	c.(1201-1206)cctgggfs	p.P401fs	MOV10L1_uc003bjk.4_Frame_Shift_Ins_p.P401fs|MOV10L1_uc011arp.2_Frame_Shift_Ins_p.P381fs|MOV10L1_uc011arq.1_Frame_Shift_Ins_p.P162fs|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	401					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion 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)		AGCCTGAGCCTGGGGGGCTTGT	0.46													G	50553621	-	G	50553620	7	5	160	1	0	1	1	0	0	0	0	0	9719	1348	47	0	1275	0	MOV10L1	22	50553620	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	336093	50553620	750946	1141	88027											
PLXNB2	23654	broad.mit.edu	37	chr22	50728599	50728599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgaaagacttctcccCgctgccgtcctcgtagaaca	9	16	1	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50728599C>T	uc003bkv.3	-	3	521	c.415G>A	c.(415-417)GGG>AGG	p.G139R		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	139	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		GACTTCTCCCCGCTGCCGTCC	0.647													T	50728599	C	T	50728599	3	4	160	1	0	0	0	0	1	0	0	0	12124	652	23	1	5241	1	PLXNB2	22	50728599	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	174979	50728599	575967	1142	88028											
FAM116B	414918	broad.mit.edu	37	chr22	50755772	50755772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcacctgcctgaagtAcacgtagccgaagtagtgtg	11	11	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50755772A>G	uc011aru.1	-	6	475	c.403T>C	c.(403-405)TAC>CAC	p.Y135H	FAM116B_uc011arv.1_Missense_Mutation_p.Y135H	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	135											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|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)		TGCCTGAAGTACACGTAGCCG	0.642													G	50755772	A	G	50755772	3	3	160	1	0	0	0	0	1	0	0	0	5408	391	14	3	1418	3	FAM116B	22	50755772	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	27173	50755772	548794	1143	88029											
MIOX	55586	broad.mit.edu	37	chr22	50928041	50928041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtgcagccagcaggaCctggccatgctgccctgggt	14	14	0	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50928041C>T	uc003bll.1	+	9	831	c.717C>T	c.(715-717)GAC>GAT	p.D239D	MIOX_uc003blm.1_Silent_p.D239D|MIOX_uc003bln.1_Intron	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	239					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		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)		GCCAGCAGGACCTGGCCATGC	0.672													T	50928041	C	T	50928041	2	4	160	1	0	0	0	0	0	0	0	1	9590	506	18	4		4	MIOX	22	50928041	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	172269	50928041	376525	1144	88030											
CSF2RA	1438	broad.mit.edu	37	chrX	1413254	1413254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcaatgtcaccgtacGttgcaacacgacgcactgcc	8	16	1	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:1413254G>A	uc010nct.2	+	9	1002	c.680G>A	c.(679-681)CGT>CAT	p.R227H	CSF2RA_uc011mhb.1_Missense_Mutation_p.R227H|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R227H|CSF2RA_uc004cpo.2_Missense_Mutation_p.R227H|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.R94H|CSF2RA_uc004cpp.2_Missense_Mutation_p.R227H|CSF2RA_uc010ncv.2_Missense_Mutation_p.R227H|CSF2RA_uc004cpr.2_Missense_Mutation_p.R227H	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	227	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		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)	GTCACCGTACGTTGCAACACG	0.572													A	1413254	G	A	1413254	3	1	160	1	0	0	0	0	1	0	0	0	3934	1145	40	1	702	1	CSF2RA	23	1413254	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08		1413254	153857306	1145	88031											
SLC25A6	293	broad.mit.edu	37	chrX	1508411	1508411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagtacctccagaactgCgtgtgcttgtccacgccccc	9	16	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:1508411C>T	uc004cpt.2	-	2	417	c.321G>A	c.(319-321)ACG>ACA	p.T107T	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	107				KHTQ -> RHA (in Ref. 5; AAA36750).	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				0		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)	TCCAGAACTGCGTGTGCTTGT	0.612													T	1508411	C	T	1508411	2	4	160	1	0	0	0	0	0	0	0	1	14513	755	27	1		1	SLC25A6	23	1508411	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	95157	1508411	153762149	1146	88032											
SHROOM2	357	broad.mit.edu	37	chrX	9864465	9864465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcacatgtgagggcacGgagccctggtcgcgcaccac	15	15	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:9864465G>A	uc004csu.1	+	4	2607	c.2517G>A	c.(2515-2517)ACG>ACA	p.T839T		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	839					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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GTGAGGGCACGGAGCCCTGGT	0.667													A	9864465	G	A	9864465	2	1	160	1	0	0	0	0	0	0	0	1	14294	1103	39	1		1	SHROOM2	23	9864465	Silent	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	8356054	9864465	145406095	1147	88033											
DMD	1756	broad.mit.edu	37	chrX	31196799	31196800	+	Frame_Shift_Ins	INS	-	-	C													actcacgtttccatgttgtcINScccctctaagacagtctgca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:31196798_31196799T>TC	uc004dda.1	-	69	10454_10455	c.10210_10211A>GA	c.(10210-10212)gacfs	p.D3404fs	DMD_uc004dcq.1_Frame_Shift_Ins_p.D675fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dct.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.D2060fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.D2063fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.D3281fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.D3400fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.D3396fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.D336fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dco.1_Frame_Shift_Ins_p.D336fs|DMD_uc010ngm.3_Frame_Shift_Ins_p.D336fs	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3404	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)				TTCCATGTTGTCCCCCTCTAAG	0.446													C	31196800	-	C	31196799	7	5	160	1	0	1	1	0	0	0	0	0	4580	855	30	0	977	0	DMD	23	31196799	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	21332334	31196799	124073761	1148	88034											
MED14	9282	broad.mit.edu	37	chrX	40572274	40572274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaaattctccttcaacacGaaacttcacccggccatttg	4	14	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:40572274G>A	uc004dex.3	-	6	813	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MED14_uc010nhe.1_Missense_Mutation_p.R109C	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	225	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			breast(2)|kidney(1)|skin(1)	4						CCTTCAACACGAAACTTCACC	0.408													A	40572274	G	A	40572274	3	1	160	1	0	0	0	0	1	0	0	0	9432	1058	37	1	3795	1	MED14	23	40572274	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	9375475	40572274	114698286	1149	88035											
PORCN	64840	broad.mit.edu	37	chrX	48374500	48374500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgtcttgtcaaagcGgtgcccgccagactgttcgc	12	13	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:48374500G>A	uc010nie.1	+	13	1297	c.1139G>A	c.(1138-1140)CGG>CAG	p.R380Q	PORCN_uc004djr.1_Missense_Mutation_p.R375Q|PORCN_uc004djs.1_Missense_Mutation_p.R369Q|PORCN_uc004djt.1_Missense_Mutation_p.R298Q|PORCN_uc011mlx.1_Missense_Mutation_p.R298Q|PORCN_uc004dju.1_Missense_Mutation_p.R238Q|PORCN_uc004djv.1_Missense_Mutation_p.R380Q|PORCN_uc004djw.1_Missense_Mutation_p.R374Q	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	380	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						TTGTCAAAGCGGTGCCCGCCA	0.592													A	48374500	G	A	48374500	3	1	160	1	0	0	0	0	1	0	0	0	12258	1116	39	1	1185	1	PORCN	23	48374500	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	7802226	48374500	106896060	1150	88036											
KDM5C	8242	broad.mit.edu	37	chrX	53225096	53225096	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagtggcagggtcctcActtggatctcatcaacatca	12	10	4	0			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:53225096A>G	uc004drz.2	-	20	3653	c.3120_splice	c.e20+1	p.Q1040_splice	KDM5C_uc011moc.1_Splice_Site|KDM5C_uc011mod.1_Splice_Site_p.Q973_splice|KDM5C_uc004dsa.2_Splice_Site_p.Q1039_splice	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform						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			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CAGGGTCCTCACTTGGATCTC	0.577			N|F|S		clear cell renal carcinoma								G	53225096	A	G	53225096	5	3	160	1	0	0	0	0	0	0	1	0	8135	173	6	3	1686	3	KDM5C	23	53225096	Splice_Site	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	4850596	53225096	102045464	1151	88037											
AR	367	broad.mit.edu	37	chrX	66905888	66905888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgccagcagaaatgattGcactattgataaattccgaa	9	8	0	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:66905888G>A	uc004dwu.1	+	3	2920	c.1805G>A	c.(1804-1806)TGC>TAC	p.C602Y	AR_uc011mpd.1_Missense_Mutation_p.C602Y|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.C602Y|AR_uc004dwv.1_Missense_Mutation_p.C70Y	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	601	NR C4-type.|Interaction with HIPK3 (By similarity).|Nuclear receptor.		C -> F (in AIS).		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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	AGAAATGATTGCACTATTGAT	0.398									Androgen_Insensitivity_Syndrome				A	66905888	G	A	66905888	3	1	160	1	0	0	0	0	1	0	0	0	836	1319	46	2	1839	2	AR	23	66905888	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	13680792	66905888	88364672	1152	88038											
CDX4	1046	broad.mit.edu	37	chrX	72667289	72667289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatggatcctcactggcCgtctctgggagtctggggct	14	12	3	0	rs145092385	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:72667289C>T	uc011mqk.1	+	1	200	c.200C>T	c.(199-201)CCG>CTG	p.P67L		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					CCTCACTGGCCGTCTCTGGGA	0.612													T	72667289	C	T	72667289	3	4	160	1	0	0	0	0	1	0	0	0	3184	652	23	1	202	1	CDX4	23	72667289	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5761401	72667289	82603271	1153	88039											
MAGEE2	139599	broad.mit.edu	37	chrX	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-													gattggcgcctgagggcactGgggggcatcaacgactagca					rs61732441	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:75004754delG	uc004ecj.1	-	1	318	c.133delC	c.(133-135)CAGfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	45										ovary(1)|skin(1)	2						TGAGGGCACTGGGGGGCATCA	0.587													-	75004754	G	-	75004754	7	5	160	1	0	1	0	1	0	0	0	0	9186	1357	47	0	1442	0	MAGEE2	23	75004754	Frame_Shift_Del	DEL	G	TCGA-CD-A4MI-01A-21D-A25D-08	2337465	75004754	80265806	1154	88040											
BRWD3	254065	broad.mit.edu	37	chrX	79978130	79978130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgtcctggtaccaaccGttggaattttgtgggatgag	12	9	0	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:79978130G>A	uc004edt.2	-	17	2070	c.1807C>T	c.(1807-1809)CGG>TGG	p.R603W	BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.R199W|BRWD3_uc004edp.2_Missense_Mutation_p.R432W|BRWD3_uc004edq.2_Missense_Mutation_p.R199W|BRWD3_uc010nmj.1_Missense_Mutation_p.R199W|BRWD3_uc004edr.2_Missense_Mutation_p.R273W|BRWD3_uc004eds.2_Missense_Mutation_p.R199W|BRWD3_uc004edu.2_Missense_Mutation_p.R273W|BRWD3_uc004edv.2_Missense_Mutation_p.R199W|BRWD3_uc004edw.2_Missense_Mutation_p.R199W|BRWD3_uc004edx.2_Missense_Mutation_p.R199W|BRWD3_uc004edy.2_Missense_Mutation_p.R199W|BRWD3_uc004edz.2_Missense_Mutation_p.R273W|BRWD3_uc004eea.2_Missense_Mutation_p.R273W|BRWD3_uc004eeb.2_Missense_Mutation_p.R199W	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	603										ovary(4)	4						GGTACCAACCGTTGGAATTTT	0.398													A	79978130	G	A	79978130	3	1	160	1	0	0	0	0	1	0	0	0	1526	1144	40	1	3701	1	BRWD3	23	79978130	Missense_Mutation	SNP	G	TCGA-CD-A4MI-01A-21D-A25D-08	4973376	79978130	75292430	1155	88041											
RPS6KA6	27330	broad.mit.edu	37	chrX	83352808	83352808	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgtgtaaaaaaggactcCtaaactccagatatcacaag	6	9	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:83352808C>A	uc004eej.1	-	19	1902	c.1825G>T	c.(1825-1827)GGA>TGA	p.G609*	RPS6KA6_uc011mqt.1_Nonsense_Mutation_p.G609*|RPS6KA6_uc011mqu.1_Nonsense_Mutation_p.G506*	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	609	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						AAAAGGACTCCTAAACTCCAG	0.313													A	83352808	C	A	83352808	4	1	160	1	0	0	0	0	0	1	0	0	13655	690	24	5	428	5	RPS6KA6	23	83352808	Nonsense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	3374678	83352808	71917752	1156	88042											
BHLHB9	80823	broad.mit.edu	37	chrX	102005402	102005402	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggcagcattaaaactcatCtttaaccagaaagaggcaaa	7	8	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:102005402C>T	uc010nog.2	+	4	2050	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I	BHLHB9_uc011mrq.1_Silent_p.I493I|BHLHB9_uc011mrr.1_Silent_p.I493I|BHLHB9_uc011mrs.1_Silent_p.I493I|BHLHB9_uc011mrt.1_Silent_p.I493I|BHLHB9_uc004ejo.2_Silent_p.I493I|BHLHB9_uc011mru.1_Silent_p.I493I|BHLHB9_uc011mrv.1_Silent_p.I493I	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	493						cytoplasm|nucleus	binding			ovary(2)	2						TAAAACTCATCTTTAACCAGA	0.358													T	102005402	C	T	102005402	2	4	160	1	0	0	0	0	0	0	0	1	1420	903	32	4		4	BHLHB9	23	102005402	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	18652594	102005402	53265158	1157	88043											
PLP1	5354	broad.mit.edu	37	chrX	103041549	103041549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcaagggcctgagcgcaaCggtaacagggggccagaagg	18	10	0	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:103041549C>T	uc010nov.2	+	4	627	c.347C>T	c.(346-348)ACG>ATG	p.T116M	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.T116M|PLP1_uc004elj.2_Missense_Mutation_p.T116M|PLP1_uc011msf.1_Missense_Mutation_p.T61M|PLP1_uc010now.1_Missense_Mutation_p.T120M|PLP1_uc010nox.2_Missense_Mutation_p.T70M	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	116	Cytoplasmic (Probable).		T -> K (in HLD1).		cell death|synaptic transmission	integral to membrane				ovary(1)	1						CTGAGCGCAACGGTAACAGGG	0.597													T	103041549	C	T	103041549	3	4	160	1	0	0	0	0	1	0	0	0	12104	550	19	1	357	1	PLP1	23	103041549	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1036147	103041549	52229011	1158	88044											
H2BFWT	158983	broad.mit.edu	37	chrX	103267317	103267317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtatggcatacagtgaAgttctggaaaattccaccat	9	8	1	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:103267317A>G	uc004elr.2	-	2	519	c.495T>C	c.(493-495)ACT>ACC	p.T165T		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	165					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						catacagtgaagttctggaaa	0.194													G	103267317	A	G	103267317	2	3	160	1	0	0	0	0	0	0	0	1	6932	59	3	3		3	H2BFWT	23	103267317	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	225768	103267317	52003243	1159	88045											
NRK	203447	broad.mit.edu	37	chrX	105189887	105189887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattgatcaatcagcagaCtctgaaggagactacatgtc	9	9	3	4			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:105189887C>T	uc004emd.2	+	25	4386	c.4083C>T	c.(4081-4083)GAC>GAT	p.D1361D	NRK_uc011msi.1_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1361	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						AATCAGCAGACTCTGAAGGAG	0.438										HNSCC(51;0.14)			T	105189887	C	T	105189887	2	4	160	1	0	0	0	0	0	0	0	1	10655	564	20	4		4	NRK	23	105189887	Silent	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	1922570	105189887	50080673	1160	88046											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|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													C	107977804	-	C	107977803	7	5	160	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-CD-A4MI-01A-21D-A25D-08	2787916	107977803	47292757	1161	88047											
RBMX	27316	broad.mit.edu	37	chrX	135958813	135958813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggaatatccaccgtcAtctgcatcaaaaatagaaaa	5	9	4	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:135958813A>G	uc004fae.1	-	5	600	c.390T>C	c.(388-390)GAT>GAC	p.D130D	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Silent_p.D130D|RBMX_uc011mwg.1_Silent_p.D91D|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Silent_p.D91D|RBMX_uc004fag.1_Silent_p.D2D	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	130						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ATCCACCGTCATCTGCATCAA	0.318													G	135958813	A	G	135958813	2	3	160	1	0	0	0	0	0	0	0	1	13151	231	8	3		3	RBMX	23	135958813	Silent	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	27981010	135958813	19311747	1162	88048											
MAGEC1	9947	broad.mit.edu	37	chrX	140994236	140994236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcctccttctcctctaCtttattgagtattttccaga	4	13	2	2			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:140994236C>T	uc004fbt.2	+	4	1332	c.1046C>T	c.(1045-1047)ACT>ATT	p.T349I	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	349							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCTACTTTATTGAGT	0.478										HNSCC(15;0.026)			T	140994236	C	T	140994236	3	4	160	1	0	0	0	0	1	0	0	0	9180	565	20	4	1052	4	MAGEC1	23	140994236	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	5035423	140994236	14276324	1163	88049											
RPS4Y1	6192	broad.mit.edu	37	chrY	2713761	2713761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccgttttgctgttcacCgcatcacagtggaagaggca	13	10	2	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrY:2713761C>T	uc004fqi.2	+	4	380	c.337C>T	c.(337-339)CGC>TGC	p.R113C		NM_001008	NP_000999	P22090	RS4Y1_HUMAN	ribosomal protein S4, Y-linked 1 Y isoform	113					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0						TGCTGTTCACCGCATCACAGT	0.458													T	2713761	C	T	2713761	3	4	160	1	0	0	0	0	1	0	0	0	13646	652	23	1	351	1	RPS4Y1	24	2713761	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08		2713761	56659805	1164	88050											
TBL1Y	90665	broad.mit.edu	37	chrY	6954381	6954381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgatcttcaggctcacagCaaagagatctacaccatcaa	6	13	5	1			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrY:6954381C>A	uc004frb.2	+	16	1850	c.1203C>A	c.(1201-1203)AGC>AGA	p.S401R	TBL1Y_uc004frc.2_Missense_Mutation_p.S401R|TBL1Y_uc004frd.2_Missense_Mutation_p.S401R|TBL1Y_uc011nap.1_Missense_Mutation_p.S243R	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y	401	WD 6.				transcription, DNA-dependent						0						AGGCTCACAGCAAAGAGATCT	0.562													A	6954381	C	A	6954381	3	1	160	1	0	0	0	0	1	0	0	0	15638	709	25	5	1245	5	TBL1Y	24	6954381	Missense_Mutation	SNP	C	TCGA-CD-A4MI-01A-21D-A25D-08	4240620	6954381	52419185	1165	88051											
KDM5D	8284	broad.mit.edu	37	chrY	21869171	21869171	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgcaacagagcagtcacAtcttcagaggccagagcctt	10	12	3	3			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrY:21869171A>T	uc004fug.2	-	24	4149	c.3861T>A	c.(3859-3861)GAT>GAA	p.D1287E	KDM5D_uc011naz.1_Missense_Mutation_p.D1318E|KDM5D_uc010nwy.2_Missense_Mutation_p.D1230E|KDM5D_uc004fuf.2_Missense_Mutation_p.D462E	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	jumonji, AT rich interactive domain 1D isoform	1287					chromatin modification|spermatogenesis	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			skin(1)	1					Vitamin C(DB00126)	GAGCAGTCACATCTTCAGAGG	0.612													T	21869171	A	T	21869171	3	4	160	1	0	0	0	0	1	0	0	0	8136	214	8	5	774	5	KDM5D	24	21869171	Missense_Mutation	SNP	A	TCGA-CD-A4MI-01A-21D-A25D-08	14914790	21869171	37504395	1166	88052											
AGRN	375790	broad.mit.edu	37	chr1	981861	981862	+	Frame_Shift_Ins	INS	-	-	C													ctgagccaggcactgccggcINScccccccggcgccctccccc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:981860_981861G>GC	uc001ack.2	+	17	3045_3046	c.2995_2996G>GC	c.(2995-2997)gccfs	p.A999fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	999	Ser/Thr-rich.				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)		GGCACTGCCGGCCCCCCCCGGC	0.703													C	981862	-	C	981861	7	5	161	1	0	1	1	0	0	0	0	0	397	739	26	0	3066	0	AGRN	1	981861	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08		981861	248268760	1	88053											
TNFRSF4	7293	broad.mit.edu	37	chr1	1147466	1147466	+	Missense_Mutation	SNP	C	C	T													gtccctgtcctcacagattgCgtccgagctattgctggccg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:1147466C>T	uc001ade.2	-	5	495	c.490G>A	c.(490-492)GCA>ACA	p.A164T	TNFRSF4_uc001adf.2_Missense_Mutation_p.A168T	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	164	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCACAGATTGCGTCCGAGCTA	0.677													T	1147466	C	T	1147466	3	4	161	1	0	0	0	0	1	0	0	0	16294	768	27	1	355	1	TNFRSF4	1	1147466	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	165605	1147466	248103155	2	88054	428	2									
TNFRSF4	7293	broad.mit.edu	37	chr1	1147469	1147469	+	Missense_Mutation	SNP	C	C	T													cctgtcctcacagattgcgtCcgagctattgctggccggct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:1147469C>T	uc001ade.2	-	5	492	c.487G>A	c.(487-489)GAC>AAC	p.D163N	TNFRSF4_uc001adf.2_Missense_Mutation_p.D167N	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	163	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGATTGCGTCCGAGCTATTG	0.682													T	1147469	C	T	1147469	3	4	161	1	0	0	0	0	1	0	0	0	16294	855	30	4	358	4	TNFRSF4	1	1147469	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3	1147469	248103152	3	88055	428	2									
TP73	7161	broad.mit.edu	37	chr1	3624162	3624162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagatgagcagccgcgCggcctcggccagcccctaca	13	17	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:3624162C>T	uc001akp.2	+	4	346	c.236C>T	c.(235-237)GCG>GTG	p.A79V	TP73_uc001akq.2_Missense_Mutation_p.A79V|TP73_uc010nzj.1_Missense_Mutation_p.A30V|TP73_uc001akr.2_Missense_Mutation_p.A30V|TP73_uc009vlk.1_Missense_Mutation_p.A30V|TP73_uc001aks.2_Missense_Mutation_p.A30V|TP73_uc009vll.2_Missense_Mutation_p.A8V|TP73_uc010nzk.1_Missense_Mutation_p.A8V	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	79					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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGCAGCCGCGCGGCCTCGGCC	0.677													T	3624162	C	T	3624162	3	4	161	1	0	0	0	0	1	0	0	0	16390	768	27	1	289	1	TP73	1	3624162	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2476693	3624162	245626459	4	88056											
TP73	7161	broad.mit.edu	37	chr1	3638722	3638722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcggagcacgtgaccgaCgtcgtgaaacgctgccccaa	12	13	0	2	rs142165895	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:3638722C>T	uc001akp.2	+	5	677	c.567C>T	c.(565-567)GAC>GAT	p.D189D	TP73_uc001akq.2_Silent_p.D189D|TP73_uc010nzj.1_Silent_p.D140D|TP73_uc001akr.2_Silent_p.D140D|TP73_uc009vlk.1_Silent_p.D140D|TP73_uc001aks.2_Silent_p.D140D|TP73_uc010nzk.1_Silent_p.D118D	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	189	DNA-binding (Potential).				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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACGTGACCGACGTCGTGAAAC	0.647													T	3638722	C	T	3638722	2	4	161	1	0	0	0	0	0	0	0	1	16390	535	19	1		1	TP73	1	3638722	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	14560	3638722	245611899	5	88057											
CLSTN1	22883	broad.mit.edu	37	chr1	9804682	9804682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggatggcagcagctcGgcagtgcccgcggccgcacc	16	16	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:9804682G>A	uc001aqh.2	-	8	1764	c.1005C>T	c.(1003-1005)GCC>GCT	p.A335A	CLSTN1_uc001aqi.2_Silent_p.A325A|CLSTN1_uc010oag.1_Silent_p.A335A	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	335	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCAGCTCGGCAGTGCCCG	0.647													A	9804682	G	A	9804682	2	1	161	1	0	0	0	0	0	0	0	1	3561	1103	39	1		1	CLSTN1	1	9804682	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6165960	9804682	239445939	6	88058											
MTOR	2475	broad.mit.edu	37	chr1	11303205	11303205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggggcagggccgctcGgatgatgtccagcacgcgag	17	11	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:11303205G>A	uc001asd.2	-	9	1499	c.1378C>T	c.(1378-1380)CGA>TGA	p.R460*		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	460					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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						AGGGCCGCTCGGATGATGTCC	0.537													A	11303205	G	A	11303205	4	1	161	1	0	0	0	0	0	1	0	0	9954	1124	39	1	6471	1	MTOR	1	11303205	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1498523	11303205	237947416	7	88059											
SPEN	23013	broad.mit.edu	37	chr1	16258616	16258616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagacacgccggcgagccGatgaagaggaggagaacgag	16	9	0	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:16258616G>A	uc001axk.1	+	11	6085	c.5881G>A	c.(5881-5883)GAT>AAT	p.D1961N	SPEN_uc010obp.1_Missense_Mutation_p.D1920N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1961					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		CCGGCGAGCCGATGAAGAGGA	0.607													A	16258616	G	A	16258616	3	1	161	1	0	0	0	0	1	0	0	0	15037	1058	37	1	5923	1	SPEN	1	16258616	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4955411	16258616	232992005	8	88060											
ZBTB17	7709	broad.mit.edu	37	chr1	16272679	16272679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgggcctgaccgccgcGctcctccttgaggtccctgc	11	18	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:16272679G>A	uc001axl.3	-	5	744	c.505C>T	c.(505-507)CGC>TGC	p.R169C	ZBTB17_uc010obq.1_Missense_Mutation_p.R86C|ZBTB17_uc010obr.1_Missense_Mutation_p.R169C|ZBTB17_uc010obs.1_Missense_Mutation_p.R93C|ZBTB17_uc010obt.1_Missense_Mutation_p.R106C|ZBTB17_uc010obu.1_Missense_Mutation_p.R93C|ZBTB17_uc009vom.1_Missense_Mutation_p.R112C|ZBTB17_uc010obv.1_Missense_Mutation_p.R169C	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	169					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		TGACCGCCGCGCTCCTCCTTG	0.672													A	16272679	G	A	16272679	3	1	161	1	0	0	0	0	1	0	0	0	17524	1087	38	1	1954	1	ZBTB17	1	16272679	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	14063	16272679	232977942	9	88061											
DDOST	1650	broad.mit.edu	37	chr1	20987823	20987823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagagggcccaagcccgGgccgcggtgctgggctccat	15	14	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:20987823G>A	uc001bdo.1	-	1	215	c.72C>T	c.(70-72)GCC>GCT	p.A24A	DDOST_uc009vpw.1_Silent_p.A24A|DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Silent_p.A24A	NM_005216	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide-protein	24					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				0		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)		CCCAAGCCCGGGCCGCGGTGC	0.667											OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	20987823	G	A	20987823	2	1	161	1	0	0	0	0	0	0	0	1	4335	1219	43	4		4	DDOST	1	20987823	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4715144	20987823	228262798	10	88062											
HSPG2	3339	broad.mit.edu	37	chr1	22170713	22170713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgcccgggcaccacGcacttcagatccagggtctg	13	15	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:22170713G>A	uc001bfj.2	-	65	8584	c.8544C>T	c.(8542-8544)TGC>TGT	p.C2848C	HSPG2_uc009vqd.2_Silent_p.C2849C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2848	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CGGGCACCACGCACTTCAGAT	0.672													A	22170713	G	A	22170713	2	1	161	1	0	0	0	0	0	0	0	1	7430	1079	38	1		1	HSPG2	1	22170713	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1182890	22170713	227079908	11	88063											
EPHB2	2048	broad.mit.edu	37	chr1	23191384	23191385	+	Frame_Shift_Ins	INS	-	-	C													cccagccatcccctccgcgcINScccaggctgtgatttccagt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:23191383_23191384G>GC	uc009vqj.1	+	4	1126_1127	c.981_982G>GC	c.(979-984)gcgcccfs	p.A327fs	EPHB2_uc001bge.3_Frame_Shift_Ins_p.A327fs|EPHB2_uc001bgf.3_Frame_Shift_Ins_p.A327fs|EPHB2_uc010odu.2_Frame_Shift_Ins_p.A327fs|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	327	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.A327V(1)		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)		TCCCCTCCGCGCCCCAGGCTGT	0.639													C	23191385	-	C	23191384	7	5	161	1	0	1	1	0	0	0	0	0	5175	739	26	0	1000	0	EPHB2	1	23191384	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1020671	23191384	226059237	12	88064											
ARID1A	8289	broad.mit.edu	37	chr1	27106973	27106973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcagtatcggcaaccTcctgggcttcctagaggaca	13	11	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:27106973T>C	uc001bmv.1	+	20	6957	c.6584T>C	c.(6583-6585)CTC>CCC	p.L2195P	ARID1A_uc001bmu.1_Missense_Mutation_p.L1978P|ARID1A_uc001bmx.1_Missense_Mutation_p.L1041P|ARID1A_uc009vsm.1_Missense_Mutation_p.L523P|ARID1A_uc009vsn.1_Missense_Mutation_p.L437P	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2195					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		ATCGGCAACCTCCTGGGCTTC	0.622			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								C	27106973	T	C	27106973	3	2	161	1	0	0	0	0	1	0	0	0	913	1551	54	3	6662	3	ARID1A	1	27106973	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	3915589	27106973	222143648	13	88065											
SLC9A1	6548	broad.mit.edu	37	chr1	27429016	27429016	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgccagctatcagacaCttcttcacatatttcttatt	4	13	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:27429016C>G	uc001bnm.2	-	8	2306	c.1680G>C	c.(1678-1680)AAG>AAC	p.K560N	SLC9A1_uc001bnl.2_Missense_Mutation_p.K64N|SLC9A1_uc010ofk.1_Missense_Mutation_p.K221N	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	560	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				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)	CTATCAGACACTTCTTCACAT	0.587											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	27429016	C	G	27429016	3	3	161	1	0	0	0	0	1	0	0	0	14709	564	20	5	787	5	SLC9A1	1	27429016	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	322043	27429016	221821605	14	88066											
WDTC1	23038	broad.mit.edu	37	chr1	27621108	27621109	+	Frame_Shift_Ins	INS	-	-	G													cagagctactagtcaacatgINSgggggggaacaggtatgtac					rs145339479		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:27621107_27621108T>TG	uc009vst.2	+	8	1395_1396	c.860_861T>TG	c.(859-861)atgfs	p.M287fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.M287fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	287							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)		CTAGTCAACATGGGGGGGGAAC	0.54													G	27621109	-	G	27621108	7	5	161	1	0	1	1	0	0	0	0	0	17339	1348	47	0	891	0	WDTC1	1	27621108	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	192092	27621108	221629513	15	88067											
LAPTM5	7805	broad.mit.edu	37	chr1	31208028	31208028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccacactcaccttctggaGcatcttggagtttctcttct	7	13	5	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:31208028G>T	uc001bsc.2	-	7	782	c.691C>A	c.(691-693)CTC>ATC	p.L231I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	231					transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTCTGGAGCATCTTGGAG	0.338													T	31208028	G	T	31208028	3	4	161	1	0	0	0	0	1	0	0	0	8626	971	34	5	105	5	LAPTM5	1	31208028	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3586920	31208028	218042593	16	88068											
ZCCHC17	51538	broad.mit.edu	37	chr1	31836880	31836882	+	In_Frame_Del	DEL	AGA	AGA	-													tttaaaattttcttttcaggAgaagaagaaaaagaaacata							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:31836879_31836881GAGA>G	uc001bsp.1	+	7	701_703	c.565_567GAGA>G	c.(565-567)gag>G	p.E189del	ZCCHC17_uc001bsq.1_In_Frame_Del_p.E181del|ZCCHC17_uc010ogf.1_In_Frame_Del_p.E191del|ZCCHC17_uc009vtu.1_In_Frame_Del_p.E165del|ZCCHC17_uc001bsr.1_In_Frame_Del_p.E189del|ZCCHC17_uc009vtv.1_In_Frame_Del_p.E165del	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	189	Lys-rich.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TTCTTTTCAGGAGAAGAAGAAAA	0.394													-	31836882	AGA	-	31836880	7	5	161	1	0	1	0	1	0	0	0	0	17582	318	11	0	592	0	ZCCHC17	1	31836880	In_Frame_Del	DEL	AGA	TCGA-CD-A4MJ-01A-11D-A25D-08	628852	31836880	217413741	17	88069											
COL16A1	1307	broad.mit.edu	37	chr1	32119209	32119209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatttcctacctggggggcCgggaagaccattttctcctg	12	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:32119209C>T	uc001btk.1	-	70	4968	c.4603G>A	c.(4603-4605)GGC>AGC	p.G1535S	COL16A1_uc001bti.1_Missense_Mutation_p.G149S|COL16A1_uc001btj.1_Missense_Mutation_p.G1333S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	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			ovary(8)	8		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													T	32119209	C	T	32119209	3	4	161	1	0	0	0	0	1	0	0	0	3673	652	23	1	219	1	COL16A1	1	32119209	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	282329	32119209	217131412	18	88070											
MAP7D1	55700	broad.mit.edu	37	chr1	36643530	36643530	+	Frame_Shift_Del	DEL	C	C	-													atcctggcacaggcctgcctCcccctgccccagcccagggc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:36643530delC	uc001bzz.2	+	9	1652	c.1436delC	c.(1435-1437)TCCfs	p.S479fs	MAP7D1_uc001caa.2_Frame_Shift_Del_p.S447fs|MAP7D1_uc001cab.2_Frame_Shift_Del_p.S442fs|MAP7D1_uc001cac.2_Frame_Shift_Del_p.S179fs|MAP7D1_uc001cad.2_Frame_Shift_Del_p.S25fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	479	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				AGGCCTGCCTCCCCCTGCCCC	0.647													-	36643530	C	-	36643530	7	5	161	1	0	1	0	1	0	0	0	0	9267	855	30	0	1470	0	MAP7D1	1	36643530	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4524321	36643530	212607091	19	88071											
MACF1	23499	broad.mit.edu	37	chr1	39927669	39927669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatcccaacaaggatgCgtatcgaccaacaaccgatg	7	13	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:39927669C>T	uc010oiu.1	+	58	17098	c.16967C>T	c.(16966-16968)GCG>GTG	p.A5656V	MACF1_uc010ois.1_Missense_Mutation_p.A5154V|MACF1_uc001cde.1_Missense_Mutation_p.A31V|MACF1_uc001cdf.1_Missense_Mutation_p.A31V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7112	EF-hand 2.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			AACAAGGATGCGTATCGACCA	0.398													T	39927669	C	T	39927669	3	4	161	1	0	0	0	0	1	0	0	0	9144	768	27	1	21966	1	MACF1	1	39927669	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3284139	39927669	209322952	20	88072											
MFSD2A	84879	broad.mit.edu	37	chr1	40433330	40433330	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaaccattcccatctggCagtggttcttgacccggttt	8	12	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:40433330C>T	uc001cev.2	+	10	1262	c.1081C>T	c.(1081-1083)CAG>TAG	p.Q361*	MFSD2A_uc010ojb.1_Nonsense_Mutation_p.Q309*|MFSD2A_uc001ceu.2_Nonsense_Mutation_p.Q348*|MFSD2A_uc010ojc.1_Nonsense_Mutation_p.Q192*|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Nonsense_Mutation_p.Q12*	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	361	Helical; (Potential).				transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						TCCCATCTGGCAGTGGTTCTT	0.542													T	40433330	C	T	40433330	4	4	161	1	0	0	0	0	0	1	0	0	9530	711	25	2	1119	2	MFSD2A	1	40433330	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	505661	40433330	208817291	21	88073											
TMEM125	128218	broad.mit.edu	37	chr1	43738892	43738892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctgctgggcctgctgCtgtatcaagtgggtgtgagc	15	8	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43738892C>T	uc001cir.2	+	4	1069	c.499C>T	c.(499-501)CTG>TTG	p.L167L	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.L167L	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	167	Helical; (Potential).					integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCCTGCTGCTGTATCAAGT	0.662													T	43738892	C	T	43738892	2	4	161	1	0	0	0	0	0	0	0	1	16034	796	28	2		2	TMEM125	1	43738892	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3305562	43738892	205511729	22	88074											
KIAA0467	23334	broad.mit.edu	37	chr1	43885552	43885552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtctgactgtctaccacCgggcatttctcctctattcc	8	14	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43885552C>T	uc009vws.1	+	8	1111	c.1027C>T	c.(1027-1029)CGG>TGG	p.R343W				Q5T011	SZT2_HUMAN	Homo sapiens mRNA for KIAA0467 protein, partial cds.	343						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTCTACCACCGGGCATTTCT	0.542													T	43885552	C	T	43885552	3	4	161	1	0	0	0	0	1	0	0	0	8178	667	23	1		1	KIAA0467	1	43885552	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	146660	43885552	205365069	23	88075											
KIAA0467	23334	broad.mit.edu	37	chr1	43895376	43895376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaccccaaccattcagcaTagagaccgaggacctaagcg	8	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43895376T>C	uc001cjk.1	+	14	1934	c.1472T>C	c.(1471-1473)ATA>ACA	p.I491T		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1390						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATTCAGCATAGAGACCGAG	0.537													C	43895376	T	C	43895376	3	2	161	1	0	0	0	0	1	0	0	0	8178	1406	49	3	1518	3	KIAA0467	1	43895376	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	9824	43895376	205355245	24	88076											
KIAA0467	23334	broad.mit.edu	37	chr1	43916076	43916076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgagagcccccctgcccaActggtctccacctaccacca	7	20	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43916076A>G	uc001cjk.1	+	57	7989	c.7527A>G	c.(7525-7527)CAA>CAG	p.Q2509Q	KIAA0467_uc001cjl.1_Silent_p.Q497Q	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3408						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCTGCCCAACTGGTCTCCA	0.602													G	43916076	A	G	43916076	2	3	161	1	0	0	0	0	0	0	0	1	8178	40	2	3		3	KIAA0467	1	43916076	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	20700	43916076	205334545	25	88077											
CCDC24	149473	broad.mit.edu	37	chr1	44461462	44461464	+	In_Frame_Del	DEL	AGA	AGA	-													tccttcagagctaaaggaacAgaagaaggccatggagcagg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:44461461_44461463CAGA>C	uc001clj.3	+	7	805_807	c.634_636CAGA>C	c.(634-636)cag>C	p.Q212del	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_In_Frame_Del_p.Q176del	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	212										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCTAAAGGAACAGAAGAAGGCCA	0.571													-	44461464	AGA	-	44461462	7	5	161	1	0	1	0	1	0	0	0	0	2799	188	7	0	661	0	CCDC24	1	44461462	In_Frame_Del	DEL	AGA	TCGA-CD-A4MJ-01A-11D-A25D-08	545386	44461462	204789159	26	88078											
LRRC41	10489	broad.mit.edu	37	chr1	46768845	46768845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgctcaccgcccgcccGcacagctcgaacagggcggg	15	17	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:46768845G>A	uc001cpn.2	-	1	194	c.150C>T	c.(148-150)TGC>TGT	p.C50C	LRRC41_uc010omb.1_Silent_p.C50C|LRRC41_uc001cpo.1_Silent_p.C50C|UQCRH_uc001cpp.2_5'Flank|UQCRH_uc001cpq.2_5'Flank	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	50	Interaction with Elongin BC complex (By similarity).									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCGCCCGCCCGCACAGCTCGA	0.672													A	46768845	G	A	46768845	2	1	161	1	0	0	0	0	0	0	0	1	8999	1079	38	1		1	LRRC41	1	46768845	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2307383	46768845	202481776	27	88079											
NRD1	4898	broad.mit.edu	37	chr1	52257768	52257768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaggttcttccatgtgCatctgtaattcaacatactg	6	9	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:52257768C>T	uc001ctc.3	-	28	3352	c.3030G>A	c.(3028-3030)ATG>ATA	p.M1010I	NRD1_uc009vzb.2_Missense_Mutation_p.M705I|NRD1_uc001ctd.3_Missense_Mutation_p.M942I|NRD1_uc001cte.2_Missense_Mutation_p.M878I|NRD1_uc001ctf.2_Missense_Mutation_p.M942I	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	941					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				0						CTTCCATGTGCATCTGTAATT	0.512													T	52257768	C	T	52257768	3	4	161	1	0	0	0	0	1	0	0	0	10645	710	25	2	653	2	NRD1	1	52257768	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5488923	52257768	196992853	28	88080											
BSND	7809	broad.mit.edu	37	chr1	55472890	55472890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaggctgccgtggtcatcCacaagggctcagacgagagt	15	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:55472890C>A	uc001cye.2	+	3	736	c.493C>A	c.(493-495)CAC>AAC	p.H165N		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	165	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2						CGTGGTCATCCACAAGGGCTC	0.632													A	55472890	C	A	55472890	3	1	161	1	0	0	0	0	1	0	0	0	1531	594	21	5	503	5	BSND	1	55472890	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3215122	55472890	193777731	29	88081											
ATG4C	84938	broad.mit.edu	37	chr1	63299738	63299738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctggaatattgtgtgggTattattggtggcaaacctaa	12	5	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:63299738T>C	uc001dat.2	+	8	1125	c.963T>C	c.(961-963)GGT>GGC	p.G321G	ATG4C_uc001dau.2_Silent_p.G321G	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	321					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						ATTGTGTGGGTATTATTGGTG	0.299													C	63299738	T	C	63299738	2	2	161	1	0	0	0	0	0	0	0	1	1098	1625	57	3		3	ATG4C	1	63299738	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	7826848	63299738	185950883	30	88082											
CACHD1	57685	broad.mit.edu	37	chr1	65107593	65107593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgactctccaagtcatcaAtgaagaaaatagctttctaa	6	9	4	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:65107593A>G	uc001dbo.1	+	8	1049	c.944A>G	c.(943-945)AAT>AGT	p.N315S	CACHD1_uc001dbp.1_Missense_Mutation_p.N70S|CACHD1_uc001dbq.1_Missense_Mutation_p.N70S	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	366	Extracellular (Potential).|VWFA.				calcium ion transport	integral to membrane				ovary(2)	2						CAAGTCATCAATGAAGAAAAT	0.378													G	65107593	A	G	65107593	3	3	161	1	0	0	0	0	1	0	0	0	2537	101	4	3	974	3	CACHD1	1	65107593	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1807855	65107593	184143028	31	88083											
SGIP1	84251	broad.mit.edu	37	chr1	67147853	67147853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcgcaatgtactatcGccgctcaatttagaagaagt	7	12	1	2	rs139355833		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:67147853G>A	uc001dcr.2	+	15	1333	c.1116G>A	c.(1114-1116)TCG>TCA	p.S372S	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Silent_p.S139S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	372	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			ovary(3)	3						ATGTACTATCGCCGCTCAATT	0.542													A	67147853	G	A	67147853	2	1	161	1	0	0	0	0	0	0	0	1	14206	1074	38	1		1	SGIP1	1	67147853	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2040260	67147853	182102768	32	88084											
IL12RB2	3595	broad.mit.edu	37	chr1	67838168	67838168	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccgtgtgtatgcactctcAggggatcaaggaggatgcag	14	8	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:67838168A>G	uc001ddu.2	+	11	2149	c.1509A>G	c.(1507-1509)TCA>TCG	p.S503S	IL12RB2_uc010oqi.1_Silent_p.S503S|IL12RB2_uc010oqj.1_Silent_p.S503S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Intron|IL12RB2_uc010oqm.1_Silent_p.S503S|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	503	Fibronectin type-III 4.|Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						ATGCACTCTCAGGGGATCAAG	0.428													G	67838168	A	G	67838168	2	3	161	1	0	0	0	0	0	0	0	1	7627	175	7	3		3	IL12RB2	1	67838168	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	690315	67838168	181412453	33	88085											
LRRC7	57554	broad.mit.edu	37	chr1	70501850	70501850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggattggggaacttcAcccttcattagctgagaccc	10	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:70501850A>G	uc001dep.2	+	17	1958	c.1928A>G	c.(1927-1929)CAC>CGC	p.H643R	LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'Flank	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	643						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GGGGAACTTCACCCTTCATTA	0.393													G	70501850	A	G	70501850	3	3	161	1	0	0	0	0	1	0	0	0	9020	159	6	3	1994	3	LRRC7	1	70501850	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2663682	70501850	178748771	34	88086											
ZRANB2	9406	broad.mit.edu	37	chr1	71534974	71534974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccttgatttcgacccaCgagatctcgaacgttctctg	7	13	3	2	rs144217678		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:71534974C>T	uc001dft.2	-	8	822	c.755G>A	c.(754-756)CGT>CAT	p.R252H	ZRANB2_uc001dfs.2_Missense_Mutation_p.R252H|uc010oqr.1_5'Flank|MIR186_hsa-mir-186|MI0000483_5'Flank	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	252	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			ovary(2)	2						TTTCGACCCACGAGATCTCGA	0.423													T	71534974	C	T	71534974	3	4	161	1	0	0	0	0	1	0	0	0	18220	536	19	1	287	1	ZRANB2	1	71534974	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1033124	71534974	177715647	35	88087											
AK5	26289	broad.mit.edu	37	chr1	77883388	77883388	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcattgatacaggatctgaTtatgaagatcaggtaattaa	8	4	3	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:77883388T>C	uc001dhn.2	+	8	1304	c.1047T>C	c.(1045-1047)GAT>GAC	p.D349D	AK5_uc001dho.2_Silent_p.D323D	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	349					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			skin(1)	1						CAGGATCTGATTATGAAGATC	0.299													C	77883388	T	C	77883388	2	2	161	1	0	0	0	0	0	0	0	1	443	1490	52	3		3	AK5	1	77883388	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	6348414	77883388	171367233	36	88088											
WDR63	126820	broad.mit.edu	37	chr1	85551643	85551643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagataaaaattttacccttAaacaacttgaaaaagatgtt	4	6	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:85551643A>G	uc001dkt.2	+	7	861	c.670A>G	c.(670-672)AAA>GAA	p.K224E	WDR63_uc009wcl.2_Missense_Mutation_p.K224E	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	224										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTACCCTTAAACAACTTGA	0.358													G	85551643	A	G	85551643	3	3	161	1	0	0	0	0	1	0	0	0	17311	363	13	3	692	3	WDR63	1	85551643	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	7668255	85551643	163698978	37	88089											
CLCA1	1179	broad.mit.edu	37	chr1	86939531	86939532	+	Frame_Shift_Ins	INS	-	-	A													ctcctgatttcattgcaggaINSaaaaagttagctgaatatgg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:86939530_86939531G>GA	uc001dlt.3	+	2	682_683	c.422_423G>GA	c.(421-423)ggafs	p.G141fs	CLCA1_uc001dls.1_Frame_Shift_Ins_p.G80fs	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	141					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTCATTGCAGGAAAAAAGTTAG	0.396													A	86939532	-	A	86939531	7	5	161	1	0	1	1	0	0	0	0	0	3457	233	9	0	433	0	CLCA1	1	86939531	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1387888	86939531	162311090	38	88090											
GBP6	163351	broad.mit.edu	37	chr1	89849839	89849839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatgatgttggagcacacGcagaaggtaagtctgccctt	11	8	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:89849839G>A	uc001dnf.2	+	10	1930	c.1656G>A	c.(1654-1656)ACG>ACA	p.T552T	GBP6_uc010ost.1_Silent_p.T422T	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	552							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGGAGCACACGCAGAAGGTAA	0.512													A	89849839	G	A	89849839	2	1	161	1	0	0	0	0	0	0	0	1	6278	1074	38	1		1	GBP6	1	89849839	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2910308	89849839	159400782	39	88091											
LRRC8B	23507	broad.mit.edu	37	chr1	90058390	90058391	+	Frame_Shift_Ins	INS	-	-	A													gcagtgtttacttttggggaINSaaaatagcttgatgaatttg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:90058389_90058390G>GA	uc001dni.3	+	7	2706_2707	c.2199_2200G>GA	c.(2197-2202)gggaaafs	p.G733fs	LRRC8B_uc001dnh.3_Frame_Shift_Ins_p.G733fs|LRRC8B_uc001dnj.3_Frame_Shift_Ins_p.G733fs	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	733						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TACTTTTGGGGAAAAATAGCTT	0.416													A	90058391	-	A	90058390	7	5	161	1	0	1	1	0	0	0	0	0	9022	247	9	0	2206	0	LRRC8B	1	90058390	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	208551	90058390	159192231	40	88092											
LRRC8D	55144	broad.mit.edu	37	chr1	90399383	90399383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccccagtgccagtacaccAatgatcaataaaactggctt	7	12	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:90399383A>G	uc001dnm.2	+	3	1181	c.756A>G	c.(754-756)CCA>CCG	p.P252P	LRRC8D_uc001dnn.2_Silent_p.P252P	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	252						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCAGTACACCAATGATCAATA	0.453													G	90399383	A	G	90399383	2	3	161	1	0	0	0	0	0	0	0	1	9024	117	5	3		3	LRRC8D	1	90399383	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	340993	90399383	158851238	41	88093											
KIAA1324	57535	broad.mit.edu	37	chr1	109735346	109735346	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagaagcctctgatgtgggCtcctcctgcacctcttgtcc	9	15	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:109735346C>A	uc001dwq.2	+	15	1933	c.1797C>A	c.(1795-1797)GGC>GGA	p.G599G	KIAA1324_uc009wex.1_Silent_p.G549G|KIAA1324_uc009wey.2_Silent_p.G512G|KIAA1324_uc010ovg.1_Silent_p.G497G|KIAA1324_uc001dwr.2_Silent_p.G249G	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	599	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		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)		CTGATGTGGGCTCCTCCTGCA	0.522													A	109735346	C	A	109735346	2	1	161	1	0	0	0	0	0	0	0	1	8223	784	28	5		5	KIAA1324	1	109735346	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	19335963	109735346	139515275	42	88094											
CHIA	27159	broad.mit.edu	37	chr1	111862019	111862019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctggatgacttcactgGcactttctgcaaccagggca	10	11	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:111862019G>A	uc001eas.2	+	11	1209	c.1106G>A	c.(1105-1107)GGC>GAC	p.G369D	CHIA_uc001ear.2_Missense_Mutation_p.G261D|CHIA_uc001eaq.2_Missense_Mutation_p.G261D|CHIA_uc009wgc.2_Missense_Mutation_p.G261D|CHIA_uc001eat.2_Missense_Mutation_p.G208D|CHIA_uc001eav.2_Missense_Mutation_p.G208D|CHIA_uc001eau.2_Missense_Mutation_p.G208D|CHIA_uc009wgd.2_Missense_Mutation_p.G208D	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	369					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			ovary(1)	1		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)		GACTTCACTGGCACTTTCTGC	0.512													A	111862019	G	A	111862019	3	1	161	1	0	0	0	0	1	0	0	0	3342	1203	42	2	1144	2	CHIA	1	111862019	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2126673	111862019	137388602	43	88095											
RSBN1	54665	broad.mit.edu	37	chr1	114354357	114354357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggggctttgatcagaggCacccctccagtcctctcgcc	11	15	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:114354357C>T	uc001edq.2	-	1	714	c.678G>A	c.(676-678)GTG>GTA	p.V226V	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	226						nucleus				ovary(1)	1	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)		TGATCAGAGGCACCCCTCCAG	0.582													T	114354357	C	T	114354357	2	4	161	1	0	0	0	0	0	0	0	1	13696	697	25	2		2	RSBN1	1	114354357	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2492338	114354357	134896264	44	88096											
VANGL1	81839	broad.mit.edu	37	chr1	116226580	116226580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggccccagtaacaatgCcactggccagtcccgggcca	10	16	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:116226580C>T	uc001efv.1	+	6	1233	c.962C>T	c.(961-963)GCC>GTC	p.A321V	VANGL1_uc009wgy.1_Missense_Mutation_p.A319V	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	321	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	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)		AGTAACAATGCCACTGGCCAG	0.522													T	116226580	C	T	116226580	3	4	161	1	0	0	0	0	1	0	0	0	17116	739	26	2	980	2	VANGL1	1	116226580	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1872223	116226580	133024041	45	88097											
ADAM30	11085	broad.mit.edu	37	chr1	120438726	120438726	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacagaagtctcttgggCcacaaatggaggacgtgctt	13	9	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:120438726C>T	uc001eij.2	-	1	388	c.234G>A	c.(232-234)TGG>TGA	p.W78*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	78					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	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)		GTCTCTTGGGCCACAAATGGA	0.532													T	120438726	C	T	120438726	4	4	161	1	0	0	0	0	0	1	0	0	248	740	26	2	2142	2	ADAM30	1	120438726	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4212146	120438726	128811895	46	88098											
RBM8A	9939	broad.mit.edu	37	chr1	145509207	145509207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccagaccggagacgtcGctgacaggtcctctgttgtc	12	12	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:145509207G>A	uc001ent.1	+	6	550	c.521G>A	c.(520-522)CGC>CAC	p.R174H	NBPF10_uc001emp.3_Intron|RBM8A_uc001enu.1_Missense_Mutation_p.R173H|RBM8A_uc001enw.1_5'Flank	NM_005105	NP_005096	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	174					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				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGAGACGTCGCTGACAGGTC	0.493													A	145509207	G	A	145509207	3	1	161	1	0	0	0	0	1	0	0	0	13146	1087	38	1	543	1	RBM8A	1	145509207	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	25070481	145509207	103741414	47	88099											
HORMAD1	84072	broad.mit.edu	37	chr1	150676776	150676776	+	Frame_Shift_Del	DEL	T	T	-													caagttcagaagatgcagggTttttttcctgttcttccatt					rs45439605		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:150676776delT	uc001evk.1	-	11	954	c.848delA	c.(847-849)AACfs	p.N283fs	HORMAD1_uc001evl.1_Frame_Shift_Del_p.N276fs|HORMAD1_uc001evm.1_Frame_Shift_Del_p.N203fs	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	283					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				ovary(2)|central_nervous_system(1)	3	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)			AGATGCAGGGTTTTTTTCCTG	0.289													-	150676776	T	-	150676776	7	5	161	1	0	1	0	1	0	0	0	0	7286	1725	60	0	356	0	HORMAD1	1	150676776	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	5167569	150676776	98573845	48	88100											
LCE2B	26239	broad.mit.edu	37	chr1	152659551	152659551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctgagccaccacaggCcccgtctcttccaccggcgc	10	20	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:152659551C>T	uc001fai.2	+	2	286	c.232C>T	c.(232-234)CCC>TCC	p.P78S		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	78	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACAGGCCCCGTCTCTT	0.677													T	152659551	C	T	152659551	3	4	161	1	0	0	0	0	1	0	0	0	8666	739	26	2	234	2	LCE2B	1	152659551	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1982775	152659551	96591070	49	88101											
LCE2B	26239	broad.mit.edu	37	chr1	152659570	152659570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgtctcttccaccggcGccggcaccagagccccgact	10	21	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:152659570G>A	uc001fai.2	+	2	305	c.251G>A	c.(250-252)CGC>CAC	p.R84H		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	84	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCACCGGCGCCGGCACCAG	0.667													A	152659570	G	A	152659570	3	1	161	1	0	0	0	0	1	0	0	0	8666	1087	38	1	253	1	LCE2B	1	152659570	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	19	152659570	96591051	50	88102											
IL6R	3570	broad.mit.edu	37	chr1	154408561	154408561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggagcgagtggagcccGgaggccatgggcacgccttg	19	10	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:154408561G>A	uc001fez.1	+	6	1361	c.924G>A	c.(922-924)CCG>CCA	p.P308P	IL6R_uc001ffa.1_Silent_p.P308P	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	308	Fibronectin type-III.|Extracellular (Potential).				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 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			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGGAGCCCGGAGGCCATGG	0.532													A	154408561	G	A	154408561	2	1	161	1	0	0	0	0	0	0	0	1	7702	1103	39	1		1	IL6R	1	154408561	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1748991	154408561	94842060	51	88103											
GON4L	54856	broad.mit.edu	37	chr1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-													tggcccaggcctgagtgtcaTttttttccctctctttgagc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:155823171_155823171AT>A	uc001flz.2	-	1	498	c.401_401AT>T	c.(400-402)atgfs	p.M134fs	GON4L_uc001fly.1_Frame_Shift_Del_p.M134fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fma.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.M134fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.M134fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K133K(1)		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)					CCTGAGTGTCATTTTTTTCCC	0.458													-	155823172	T	-	155823172	7	5	161	1	0	1	0	1	0	0	0	0	6572	1493	52	0	6563	0	GON4L	1	155823172	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1414611	155823172	93427449	52	88104											
SMG5	23381	broad.mit.edu	37	chr1	156235910	156235910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttcagcatcaaaggccGttcccccaccttcaagactc	6	16	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:156235910G>A	uc001foc.3	-	12	1666	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	SMG5_uc009wrv.2_Translation_Start_Site	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	506					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ATCAAAGGCCGTTCCCCCACC	0.552													A	156235910	G	A	156235910	3	1	161	1	0	0	0	0	1	0	0	0	14796	1145	40	1	1577	1	SMG5	1	156235910	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	412738	156235910	93014711	53	88105											
TMEM79	84283	broad.mit.edu	37	chr1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C													cgagtgccgaaccttcatgcINSccccccgggtcacccacccc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:156255497_156255498G>GC	uc010phi.2	+	1	676_677	c.480_481G>GC	c.(478-483)atgcccfs	p.M160fs	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_Frame_Shift_Ins_p.M1fs|TMEM79_uc009wrw.3_Frame_Shift_Ins_p.M160fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	160						integral to membrane		p.R163fs*17(1)		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)					GAACCTTCATGCCCCCCCGGGT	0.658													C	156255499	-	C	156255498	7	5	161	1	0	1	1	0	0	0	0	0	16200	739	26	0	483	0	TMEM79	1	156255498	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	19588	156255498	92995123	54	88106											
FCRL3	115352	broad.mit.edu	37	chr1	157666009	157666010	+	Frame_Shift_Del	DEL	AC	AC	-													ctttgtgccaggagaatgtgAcagtccctgaaccctgggct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:157666009_157666010delAC	uc001frb.2	-	7	1244_1245	c.952_953delGT	c.(952-954)GTCfs	p.V318fs	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Frame_Shift_Del_p.V318fs|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Frame_Shift_Del_p.V44fs|FCRL3_uc001frc.1_Frame_Shift_Del_p.V318fs	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	318	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GGAGAATGTGACAGTCCCTGAA	0.51													-	157666010	AC	-	157666009	7	5	161	1	0	1	0	1	0	0	0	0	5796	275	10	0	1287	0	FCRL3	1	157666009	Frame_Shift_Del	DEL	AC	TCGA-CD-A4MJ-01A-11D-A25D-08	1410511	157666009	91584612	55	88107											
OR6Y1	391112	broad.mit.edu	37	chr1	158517185	158517185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaatgccttttggcggccCtgagcagaagggatcctgag	15	9	0	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:158517185C>A	uc010pil.1	-	1	711	c.711G>T	c.(709-711)CAG>CAT	p.Q237H		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TTTGGCGGCCCTGAGCAGAAG	0.517													A	158517185	C	A	158517185	3	1	161	1	0	0	0	0	1	0	0	0	11213	680	24	5	268	5	OR6Y1	1	158517185	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	851176	158517185	90733436	56	88108											
FCGR2B	2213	broad.mit.edu	37	chr1	161641299	161641299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagagcgactccattcagtGgttccacaatgggaatctca	10	10	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:161641299G>T	uc001gaz.1	+	3	343	c.251G>T	c.(250-252)TGG>TTG	p.W84L	FCGR2B_uc009wum.1_Missense_Mutation_p.W84L|FCGR2B_uc001gay.1_Missense_Mutation_p.W83L|FCGR2B_uc001gba.1_Missense_Mutation_p.W83L|FCGR2B_uc001gbb.1_Missense_Mutation_p.W84L|FCGR2B_uc009wun.1_Missense_Mutation_p.W77L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	84	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	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)	TCCATTCAGTGGTTCCACAAT	0.582			T	?	ALL								T	161641299	G	T	161641299	3	4	161	1	0	0	0	0	1	0	0	0	5782	1357	47	5	261	5	FCGR2B	1	161641299	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3124114	161641299	87609322	57	88109											
FMO1	2326	broad.mit.edu	37	chr1	171251310	171251310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttccccttccttgatgagTctgtagtgaaagttgaagat	9	8	1	5			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:171251310T>C	uc009wvz.2	+	7	1157	c.1021T>C	c.(1021-1023)TCT>CCT	p.S341P	FMO1_uc010pme.1_Missense_Mutation_p.S278P|FMO1_uc001ghl.2_Missense_Mutation_p.S341P|FMO1_uc001ghm.2_Missense_Mutation_p.S341P|FMO1_uc001ghn.2_Missense_Mutation_p.S341P	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	341					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			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTTGATGAGTCTGTAGTGAA	0.433													C	171251310	T	C	171251310	3	2	161	1	0	0	0	0	1	0	0	0	5954	1667	58	3	1043	3	FMO1	1	171251310	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	9610011	171251310	77999311	58	88110											
MYOC	4653	broad.mit.edu	37	chr1	171605749	171605749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctgggtgtaggggtaGgtgggcttggggtctcgcat	19	7	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:171605749G>A	uc001ghu.2	-	3	853	c.831C>T	c.(829-831)ACC>ACT	p.T277T	MYOC_uc010pmk.1_Silent_p.T219T	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	277	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTAGGGGTAGGTGGGCTTGG	0.532													A	171605749	G	A	171605749	2	1	161	1	0	0	0	0	0	0	0	1	10086	987	35	4		4	MYOC	1	171605749	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	354439	171605749	77644872	59	88111											
GPR52	9293	broad.mit.edu	37	chr1	174417890	174417890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgtttactttatgctcCtgctgcctttgttgtctgct	8	9	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:174417890C>A	uc001gka.1	+	1	679	c.641C>A	c.(640-642)CCT>CAT	p.P214H	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	214	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						CTTTATGCTCCTGCTGCCTTT	0.438													A	174417890	C	A	174417890	3	1	161	1	0	0	0	0	1	0	0	0	6698	681	24	5	643	5	GPR52	1	174417890	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2812141	174417890	74832731	60	88112											
LAMC1	3915	broad.mit.edu	37	chr1	183097844	183097844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagactaaaggaagcagagaGggaagttatggacctccttc	12	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:183097844G>T	uc001gpy.3	+	18	3496	c.3239G>T	c.(3238-3240)AGG>ATG	p.R1080M		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1080	Potential.|Domain II and I.				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			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGCAGAGAGGGAAGTTATG	0.478													T	183097844	G	T	183097844	3	4	161	1	0	0	0	0	1	0	0	0	8614	1000	35	5	3309	5	LAMC1	1	183097844	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	8679954	183097844	66152777	61	88113											
HMCN1	83872	broad.mit.edu	37	chr1	185969176	185969176	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactttaatttcttatttaGgtacccctaaaccaaccatc	3	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:185969176G>A	uc001grq.1	+	26	4104	c.3875_splice	c.e26-1	p.G1292_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTCTTATTTAGGTACCCCTAA	0.313													A	185969176	G	A	185969176	5	1	161	1	0	0	0	0	0	0	1	0	7220	1014	35	4	3976	4	HMCN1	1	185969176	Splice_Site	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2871332	185969176	63281445	62	88114											
CDC73	79577	broad.mit.edu	37	chr1	193205394	193205394	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttgtagggaccgcgTtgtagccgtttttgtgcagg	13	8	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:193205394T>G	uc001gtb.2	+	15	1568	c.1325T>G	c.(1324-1326)GTT>GGT	p.V442G		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	442					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						AGGGACCGCGTTGTAGCCGTT	0.458									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				G	193205394	T	G	193205394	3	3	161	1	0	0	0	0	1	0	0	0	3085	1725	60	5	1383	5	CDC73	1	193205394	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	7236218	193205394	56045227	63	88115											
ASPM	259266	broad.mit.edu	37	chr1	197069949	197069949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccctactttgagaatgaTactctgcttcctgtgaacaa	7	11	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:197069949T>C	uc001gtu.2	-	18	8689	c.8432A>G	c.(8431-8433)TAT>TGT	p.Y2811C	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Y659C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2811					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTGAGAATGATACTCTGCTTC	0.398													C	197069949	T	C	197069949	3	2	161	1	0	0	0	0	1	0	0	0	1056	1406	49	3	2045	3	ASPM	1	197069949	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	3864555	197069949	52180672	64	88116											
ASPM	259266	broad.mit.edu	37	chr1	197111558	197111558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaacagctgatgttttaggCtctgagggagaaaaatggat	12	4	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:197111558C>T	uc001gtu.2	-	3	2081	c.1824G>A	c.(1822-1824)GAG>GAA	p.E608E	ASPM_uc001gtv.2_Silent_p.E608E|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	608					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ATGTTTTAGGCTCTGAGGGAG	0.378													T	197111558	C	T	197111558	2	4	161	1	0	0	0	0	0	0	0	1	1056	796	28	2		2	ASPM	1	197111558	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	41609	197111558	52139063	65	88117											
IPO9	55705	broad.mit.edu	37	chr1	201842024	201842024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacggctacaggatatccGtgtgaagggagaggagatct	14	7	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:201842024G>A	uc001gwz.2	+	20	2695	c.2645G>A	c.(2644-2646)CGT>CAT	p.R882H		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	882					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CAGGATATCCGTGTGAAGGGA	0.517													A	201842024	G	A	201842024	3	1	161	1	0	0	0	0	1	0	0	0	7799	1145	40	1	2723	1	IPO9	1	201842024	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4730466	201842024	47408597	66	88118											
SHISA4	149345	broad.mit.edu	37	chr1	201859594	201859594	+	Frame_Shift_Del	DEL	A	A	-													gtctaaagccccaagaccatAgcaggcatcgcctcagctgt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:201859593_201859593TA>T	uc001gxa.3	+	2	575	c.257_257TA>T	c.(256-258)atafs	p.I86fs	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	86						integral to membrane				kidney(1)|lung(4)	5						CCCAAGACCATAGCAGGCATC	0.567													-	201859594	A	-	201859594	7	5	161	1	0	1	0	1	0	0	0	0	14282	410	15	0	268	0	SHISA4	1	201859594	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	17570	201859594	47391027	67	88119											
NFASC	23114	broad.mit.edu	37	chr1	204945820	204945820	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaaggaagacgactcCctgaccatctttggggtggc	13	9	1	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:204945820C>A	uc001hbj.2	+	16	2056	c.1728C>A	c.(1726-1728)TCC>TCA	p.S576S	NFASC_uc001hbh.2_Silent_p.S576S|NFASC_uc010pqz.1_Silent_p.S570S|NFASC_uc010pra.1_Silent_p.S587S|NFASC_uc001hbi.2_Silent_p.S587S|NFASC_uc010prb.1_Silent_p.S587S|NFASC_uc010prc.1_Silent_p.S143S|NFASC_uc001hbk.1_Silent_p.S397S	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	576	Extracellular (Potential).|Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			AAGACGACTCCCTGACCATCT	0.607													A	204945820	C	A	204945820	2	1	161	1	0	0	0	0	0	0	0	1	10359	610	22	5		5	NFASC	1	204945820	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3086226	204945820	44304801	68	88120											
RAB7L1	8934	broad.mit.edu	37	chr1	205744039	205744039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgtcttgcccactgcggCgtcccccaccaccagcactt	8	20	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:205744039C>T	uc001hdf.3	-	2	386	c.46G>A	c.(46-48)GCC>ACC	p.A16T	RAB7L1_uc009xbp.2_Intron|RAB7L1_uc001hde.3_Missense_Mutation_p.A16T|RAB7L1_uc010prr.1_Missense_Mutation_p.A16T|RAB7L1_uc009xbq.2_RNA	NM_003929	NP_003920	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1 isoform	16	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCACTGCGGCGTCCCCCACC	0.622													T	205744039	C	T	205744039	3	4	161	1	0	0	0	0	1	0	0	0	12955	768	27	1	585	1	RAB7L1	1	205744039	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	798219	205744039	43506582	69	88121											
CR1	1378	broad.mit.edu	37	chr1	207696973	207696973	+	Frame_Shift_Del	DEL	C	C	-													caggaattccttgtgggctaCcccccaccatcaccaatgga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:207696973delC	uc001hfy.2	+	5	645	c.505delC	c.(505-507)CCCfs	p.P169fs	CR1_uc009xcl.1_Frame_Shift_Del_p.P169fs|CR1_uc001hfx.2_Frame_Shift_Del_p.P169fs|CR1_uc009xcj.1_Frame_Shift_Del_p.P169fs|CR1_uc009xck.1_Frame_Shift_Del_p.P169fs	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	169	Extracellular (Potential).|Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TTGTGGGCTACCCCCCACCAT	0.433													-	207696973	C	-	207696973	7	5	161	1	0	1	0	1	0	0	0	0	3840	507	18	0	523	0	CR1	1	207696973	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1952934	207696973	41553648	70	88122											
CAMK1G	57172	broad.mit.edu	37	chr1	209778891	209778891	+	Frame_Shift_Del	DEL	G	G	-													atgcccacagtgtttctggtGgggagctctttgaccggatc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:209778890_209778890TG>T	uc001hhd.3	+	4	408	c.306_306TG>T	c.(304-306)ggtfs	p.G102fs	CAMK1G_uc001hhf.4_Frame_Shift_Del_p.G102fs|CAMK1G_uc001hhe.3_Frame_Shift_Del_p.G102fs	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	102	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)		GTGTTTCTGGTGGGGAGCTCT	0.502													-	209778891	G	-	209778891	7	5	161	1	0	1	0	1	0	0	0	0	2598	1348	47	0	321	0	CAMK1G	1	209778891	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2081918	209778891	39471730	71	88123											
RPS6KC1	26750	broad.mit.edu	37	chr1	213445891	213445891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttcaatcctctggaaCgacttggtgctggagttgct	12	9	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:213445891C>T	uc010ptr.1	+	15	3274	c.3115C>T	c.(3115-3117)CGA>TGA	p.R1039*	RPS6KC1_uc001hkd.2_Nonsense_Mutation_p.R1027*|RPS6KC1_uc010pts.1_Nonsense_Mutation_p.R827*|RPS6KC1_uc010ptt.1_Nonsense_Mutation_p.R827*|RPS6KC1_uc010ptu.1_Nonsense_Mutation_p.R858*|RPS6KC1_uc010ptv.1_Nonsense_Mutation_p.R574*|RPS6KC1_uc001hke.2_Nonsense_Mutation_p.R858*	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	1039	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCCTCTGGAACGACTTGGTGC	0.413													T	213445891	C	T	213445891	4	4	161	1	0	0	0	0	0	1	0	0	13658	528	19	1	3173	1	RPS6KC1	1	213445891	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3667000	213445891	35804730	72	88124											
DISP1	84976	broad.mit.edu	37	chr1	223177746	223177746	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagcgtgatgctgctgacaActtggaacatcatcataagc	9	9	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:223177746A>C	uc001hnu.1	+	8	3154	c.3007A>C	c.(3007-3009)ACT>CCT	p.T1003P		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1003	Helical; (Potential).				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		GCTGCTGACAACTTGGAACAT	0.483													C	223177746	A	C	223177746	3	2	161	1	0	0	0	0	1	0	0	0	4539	43	2	5	3033	5	DISP1	1	223177746	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	9731855	223177746	26072875	73	88125											
TRIM17	51127	broad.mit.edu	37	chr1	228598740	228598740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggtccaggcaggccacGctctcccggagcctgctggc	14	17	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:228598740G>A	uc001hsu.2	-	4	1048	c.663C>T	c.(661-663)AGC>AGT	p.S221S	TRIM17_uc001hsv.2_Silent_p.S221S|TRIM17_uc001hsw.2_Silent_p.S194S|TRIM17_uc009xfb.2_Silent_p.S221S	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	221	Potential.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				GGCAGGCCACGCTCTCCCGGA	0.632													A	228598740	G	A	228598740	2	1	161	1	0	0	0	0	0	0	0	1	16490	1078	38	1		1	TRIM17	1	228598740	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5420994	228598740	20651881	74	88126											
ARV1	64801	broad.mit.edu	37	chr1	231126011	231126011	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgattgctgctttaggTaaggagatgccatgctttcc	11	8	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:231126011T>C	uc009xfl.1	+	3	477	c.448_splice	c.e3+2	p.E150_splice	ARV1_uc001huh.2_Splice_Site_p.E150_splice	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	ARV1 homolog						sphingolipid metabolic process	integral to membrane				breast(2)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CTGCTTTAGGTAAGGAGATGC	0.378													C	231126011	T	C	231126011	5	2	161	1	0	0	0	0	0	0	1	0	1002	1652	57	3	460	3	ARV1	1	231126011	Splice_Site	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2527271	231126011	18124610	75	88127											
SIPA1L2	57568	broad.mit.edu	37	chr1	232561478	232561478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaaggaggaccccctcCtgttgctgcagatgctctcg	11	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:232561478C>A	uc001hvg.2	-	16	4645	c.4487G>T	c.(4486-4488)AGG>ATG	p.R1496M	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R570M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1496					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACCCCCTCCTGTTGCTGCA	0.577													A	232561478	C	A	232561478	3	1	161	1	0	0	0	0	1	0	0	0	14330	681	24	5	705	5	SIPA1L2	1	232561478	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1435467	232561478	16689143	76	88128											
ACTN2	88	broad.mit.edu	37	chr1	236917337	236917337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaggcgccagtttgctGcccaagccaatgccattggg	13	12	1	1	rs146164600	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:236917337G>A	uc001hyf.2	+	16	2134	c.1930G>A	c.(1930-1932)GCC>ACC	p.A644T	ACTN2_uc001hyg.2_Missense_Mutation_p.A436T|ACTN2_uc009xgi.1_Missense_Mutation_p.A644T|ACTN2_uc010pxu.1_Missense_Mutation_p.A333T|ACTN2_uc001hyh.2_Missense_Mutation_p.A332T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	644	Spectrin 4.				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			ovary(4)|skin(1)	5	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)			CCAGTTTGCTGCCCAAGCCAA	0.602													A	236917337	G	A	236917337	3	1	161	1	0	0	0	0	1	0	0	0	205	1319	46	2	1992	2	ACTN2	1	236917337	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4355859	236917337	12333284	77	88129											
KMO	8564	broad.mit.edu	37	chr1	241725514	241725514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgacctcattgtaggatGtgatggagcctattcaactg	11	7	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:241725514G>A	uc009xgp.2	+	7	562	c.497G>A	c.(496-498)TGT>TAT	p.C166Y	KMO_uc001hyy.2_Missense_Mutation_p.C166Y|KMO_uc009xgo.1_Missense_Mutation_p.C166Y	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	166					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATTGTAGGATGTGATGGAGCC	0.388													A	241725514	G	A	241725514	3	1	161	1	0	0	0	0	1	0	0	0	8424	1377	48	4	523	4	KMO	1	241725514	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4808177	241725514	7525107	78	88130											
OR2AK2	391191	broad.mit.edu	37	chr1	248129247	248129247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctactatcattggtgtgtcAggacacctcccagtatgagt	9	10	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:248129247A>C	uc010pzd.1	+	1	614	c.614A>C	c.(613-615)CAG>CCG	p.Q205P	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	205	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)			TTGGTGTGTCAGGACACCTCC	0.428													C	248129247	A	C	248129247	3	2	161	1	0	0	0	0	1	0	0	0	10986	188	7	5	616	5	OR2AK2	1	248129247	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	6403733	248129247	1121374	79	88131											
KCNF1	3754	broad.mit.edu	37	chr2	11052800	11052800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctactttgacagggaccCggacgccttcaagtgtgtca	11	11	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:11052800C>T	uc002rax.2	+	1	738	c.248C>T	c.(247-249)CCG>CTG	p.P83L		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	83	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GACAGGGACCCGGACGCCTTC	0.572													T	11052800	C	T	11052800	3	4	161	1	0	0	0	0	1	0	0	0	8026	652	23	1	250	1	KCNF1	2	11052800	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08		11052800	232146573	80	88132											
ROCK2	9475	broad.mit.edu	37	chr2	11332397	11332397	+	Frame_Shift_Del	DEL	T	T	-													ctgggggctttttaggtatcTttttcaccaaccgactaacc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:11332397delT	uc002rbd.1	-	32	4489	c.4040delA	c.(4039-4041)AAGfs	p.K1347fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1347	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTAGGTATCTTTTTCACCAA	0.403													-	11332397	T	-	11332397	7	5	161	1	0	1	0	1	0	0	0	0	13518	1609	56	0	134	0	ROCK2	2	11332397	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	279597	11332397	231866976	81	88133											
MATN3	4148	broad.mit.edu	37	chr2	20200211	20200211	+	Frame_Shift_Del	DEL	T	T	-													gtggatcttacctgaacatgTttttttatctgcattcagag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:20200211delT	uc002rdl.2	-	5	1222	c.1159delA	c.(1159-1161)ACAfs	p.T387fs	MATN3_uc010exu.1_Frame_Shift_Del_p.T345fs	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	387	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAACATGTTTTTTTATCT	0.403													-	20200211	T	-	20200211	7	5	161	1	0	1	0	1	0	0	0	0	9335	1725	60	0	317	0	MATN3	2	20200211	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	8867814	20200211	222999162	82	88134											
APOB	338	broad.mit.edu	37	chr2	21230763	21230763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggcccacatgctgggaatCgacttgtgattgaatttcaa	11	8	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:21230763C>T	uc002red.2	-	26	9105	c.8977G>A	c.(8977-8979)GAT>AAT	p.D2993N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2993					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGGGAATCGACTTGTGAT	0.418													T	21230763	C	T	21230763	3	4	161	1	0	0	0	0	1	0	0	0	785	884	31	1	4730	1	APOB	2	21230763	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1030552	21230763	221968610	83	88135											
ASXL2	55252	broad.mit.edu	37	chr2	25966139	25966139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcttactttgcaaggTtttgcccagctgctgctgcg	12	11	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:25966139T>C	uc002rgs.2	-	12	3288	c.3067A>G	c.(3067-3069)ACC>GCC	p.T1023A	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1023					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGCAAGGTTTTGCCCAGC	0.522													C	25966139	T	C	25966139	3	2	161	1	0	0	0	0	1	0	0	0	1067	1725	60	3	1244	3	ASXL2	2	25966139	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	4735376	25966139	217233234	84	88136											
OTOF	9381	broad.mit.edu	37	chr2	26684692	26684692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgacgatcttctcctccGccgccaggtagtcgaagggg	13	12	2	2	rs144562626		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:26684692G>T	uc002rhk.2	-	43	5532	c.5405C>A	c.(5404-5406)GCG>GAG	p.A1802E	OTOF_uc010yla.1_Missense_Mutation_p.A532E|OTOF_uc002rhh.2_Missense_Mutation_p.A1035E|OTOF_uc002rhi.2_Missense_Mutation_p.A1112E|OTOF_uc002rhj.2_Missense_Mutation_p.A1035E	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1802	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTCCTCCGCCGCCAGGTA	0.602													T	26684692	G	T	26684692	3	4	161	1	0	0	0	0	1	0	0	0	11303	1087	38	5	789	5	OTOF	2	26684692	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	718553	26684692	216514681	85	88137											
OTOF	9381	broad.mit.edu	37	chr2	26684950	26684950	+	Splice_Site	DEL	C	C	-													atgcagggactgctcacccaCcccctcacgaagatgtcact							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:26684949_26684949AC>A	uc002rhk.3	-	42	5418	c.5291_splice	c.e42+1	p.G1764_splice	OTOF_uc010yla.2_Splice_Site_p.G494_splice|OTOF_uc002rhh.3_Splice_Site_p.G997_splice|OTOF_uc002rhi.3_Splice_Site_p.G1074_splice|OTOF_uc002rhj.3_Splice_Site_p.G997_splice	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1764					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)					CTGCTCACCCACCCCCTCACG	0.622													-	26684950	C	-	26684950	8	5	161	1	0	1	0	1	0	0	1	0	11303	521	18	0	906	0	OTOF	2	26684950	Splice_Site	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	258	26684950	216514423	86	88138											
CRIM1	51232	broad.mit.edu	37	chr2	36771544	36771544	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcccagaaccaaccaaTatacccattgagaagacaaa	5	11	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:36771544T>G	uc002rpd.2	+	15	2688	c.2649T>G	c.(2647-2649)AAT>AAG	p.N883K		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	883	Extracellular (Potential).				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			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AACCAACCAATATACCCATTG	0.433													G	36771544	T	G	36771544	3	3	161	1	0	0	0	0	1	0	0	0	3873	1403	49	5	2707	5	CRIM1	2	36771544	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	10086594	36771544	206427829	87	88139											
NRXN1	9378	broad.mit.edu	37	chr2	51254969	51254969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaaaggccgctgaacaccGtcatgtccctgcgcttggac	11	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:51254969G>A	uc010fbq.2	-	2	1920	c.443C>T	c.(442-444)ACG>ATG	p.T148M	NRXN1_uc002rxe.3_Missense_Mutation_p.T148M|NRXN1_uc002rxd.1_Missense_Mutation_p.T148M	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	209	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGAACACCGTCATGTCCCT	0.677													A	51254969	G	A	51254969	3	1	161	1	0	0	0	0	1	0	0	0	10665	1145	40	1	4555	1	NRXN1	2	51254969	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	14483425	51254969	191944404	88	88140											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	161	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2912171	54167140	189032233	89	88141											
FBXO41	150726	broad.mit.edu	37	chr2	73493775	73493775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggcctcccgcgccgccGtctccttcaggaactggtcg	12	18	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:73493775G>A	uc002sjb.1	-	3	1124	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	314	Potential.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCGCGCCGCCGTCTCCTTCAG	0.672													A	73493775	G	A	73493775	3	1	161	1	0	0	0	0	1	0	0	0	5750	1145	40	1	1730	1	FBXO41	2	73493775	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	19326635	73493775	169705598	90	88142											
TET3	200424	broad.mit.edu	37	chr2	74317154	74317154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcgcaagttccgcctcGcaggggacaatcccaaagag	10	15	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:74317154G>A	uc002skb.3	+	5	2614	c.2614G>A	c.(2614-2616)GCA>ACA	p.A872T		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	872							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTTCCGCCTCGCAGGGGACAA	0.592													A	74317154	G	A	74317154	3	1	161	1	0	0	0	0	1	0	0	0	15768	1087	38	1	2632	1	TET3	2	74317154	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	823379	74317154	168882219	91	88143											
DOK1	1796	broad.mit.edu	37	chr2	74783466	74783467	+	Frame_Shift_Ins	INS	-	-	C													ttcgaggccggccgccgctgINScccctcaggccctggaacct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:74783466_74783467insC	uc002sms.2	+	5	693_694	c.671_672insC	c.(670-672)TGCfs	p.C224fs	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Frame_Shift_Ins_p.C85fs|DOK1_uc010ffo.2_Frame_Shift_Ins_p.C85fs|DOK1_uc002smt.2_Frame_Shift_Ins_p.C10fs|DOK1_uc002smu.2_Frame_Shift_Ins_p.C10fs|DOK1_uc010yrz.1_Frame_Shift_Ins_p.C213fs|DOK1_uc002smv.2_Frame_Shift_Ins_p.C85fs|DOK1_uc002smw.1_Frame_Shift_Ins_p.C10fs	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	224	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						GGCCGCCGCTGCCCCTCAGGCC	0.589													C	74783467	-	C	74783466	7	5	161	1	0	1	1	0	0	0	0	0	4696	1319	46	0	689	0	DOK1	2	74783466	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	466312	74783466	168415907	92	88144	429	2									
DOK1	1796	broad.mit.edu	37	chr2	74783467	74783468	+	Frame_Shift_Ins	INS	-	-	C													tcgaggccggccgccgctgcINSccctcaggccctggaacctt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:74783466_74783467G>GC	uc002sms.3	+	4	1041_1042	c.671_672G>GC	c.(670-672)tgcfs	p.C224fs	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Frame_Shift_Ins_p.C85fs|DOK1_uc010ffo.3_Frame_Shift_Ins_p.C85fs|DOK1_uc002smt.3_Frame_Shift_Ins_p.C10fs|DOK1_uc002smu.3_Frame_Shift_Ins_p.C10fs|DOK1_uc010yrz.2_Frame_Shift_Ins_p.C213fs|DOK1_uc002smw.1_Frame_Shift_Ins_p.C10fs	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	224	IRS-type PTB.				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						GGCCGCCGCTGCCCCTCAGGCC	0.589													C	74783468	-	C	74783467	7	5	161	1	0	1	1	0	0	0	0	0	4696	747	26	0	690	0	DOK1	2	74783467	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	74783467	168415906	93	88145	429	2									
HK2	3099	broad.mit.edu	37	chr2	75101065	75101065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactgtgagattggtctcaTtgtgggtgagtgaacaccgt	13	7	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:75101065T>C	uc002snd.2	+	6	2612	c.686T>C	c.(685-687)ATT>ACT	p.I229T		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	229	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						ATTGGTCTCATTGTGGGTGAG	0.547													C	75101065	T	C	75101065	3	2	161	1	0	0	0	0	1	0	0	0	7191	1493	52	3	708	3	HK2	2	75101065	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	317598	75101065	168098308	94	88146											
POLR1A	25885	broad.mit.edu	37	chr2	86276318	86276318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggattcttcaatgatacGttgcctcttgacatctgcct	9	10	4	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:86276318G>A	uc002sqs.2	-	17	2819	c.2440C>T	c.(2440-2442)CGT>TGT	p.R814C	POLR1A_uc010ytb.1_Missense_Mutation_p.R180C	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	814					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			ovary(2)|skin(1)	3						TCAATGATACGTTGCCTCTTG	0.547													A	86276318	G	A	86276318	3	1	161	1	0	0	0	0	1	0	0	0	12209	1145	40	1	2794	1	POLR1A	2	86276318	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	11175253	86276318	156923055	95	88147											
FAHD2B	151313	broad.mit.edu	37	chr2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-													tcctgaatacaccgacacctGggggggtcccagttaggatg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:97749725delG	uc002sxm.2	-	7	993	c.842delC	c.(841-843)CCAfs	p.P281fs		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	281							hydrolase activity|metal ion binding				0						ACCGACACCTGGGGGGGTCCC	0.552													-	97749725	G	-	97749725	7	5	161	1	0	1	0	1	0	0	0	0	5374	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	11473407	97749725	145449648	96	88148											
TMEM131	23505	broad.mit.edu	37	chr2	98504533	98504533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgttcatggaaatccagcAttggtggctcaaatcgtatg	10	8	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:98504533A>G	uc002syh.3	-	4	570	c.341T>C	c.(340-342)ATG>ACG	p.M114T	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	114						integral to membrane				ovary(4)|central_nervous_system(2)	6						GAAATCCAGCATTGGTGGCTC	0.333													G	98504533	A	G	98504533	3	3	161	1	0	0	0	0	1	0	0	0	16041	217	8	3	5462	3	TMEM131	2	98504533	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	754808	98504533	144694840	97	88149											
MRPS9	64965	broad.mit.edu	37	chr2	105708963	105708963	+	Frame_Shift_Del	DEL	A	A	-													agaagtgtaactcttgaatcAaaaaaacagctgattgaacc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:105708962_105708962CA>C	uc002tcn.4	+	7	823	c.755_755CA>C	c.(754-756)tcafs	p.S252fs		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	252					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						ACTCTTGAATCAAAAAAACAG	0.398													-	105708963	A	-	105708963	7	5	161	1	0	1	0	1	0	0	0	0	9849	117	5	0	786	0	MRPS9	2	105708963	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	7204430	105708963	137490410	98	88150											
AMMECR1L	83607	broad.mit.edu	37	chr2	128622689	128622689	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggagtaatgattgtagagGggcggggcatgaagagtgcc	18	5	0	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:128622689G>T	uc002tpl.2	-	8	1163	c.912C>A	c.(910-912)CCC>CCA	p.P304P	AMMECR1L_uc002tpm.2_Silent_p.P304P	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	304										central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GATTGTAGAGGGGCGGGGCAT	0.542													T	128622689	G	T	128622689	2	4	161	1	0	0	0	0	0	0	0	1	579	1219	43	5		5	AMMECR1L	2	128622689	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	22913726	128622689	114576684	99	88151											
LCT	3938	broad.mit.edu	37	chr2	136566597	136566597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtatttctcatcgtacGtgtgatagactctggcatgg	11	9	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:136566597G>A	uc002tuu.1	-	8	3331	c.3320C>T	c.(3319-3321)ACG>ATG	p.T1107M		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1107	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCATCGTACGTGTGATAGAC	0.577													A	136566597	G	A	136566597	3	1	161	1	0	0	0	0	1	0	0	0	8693	1145	40	1	2503	1	LCT	2	136566597	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7943908	136566597	106632776	100	88152											
LRP1B	53353	broad.mit.edu	37	chr2	141130642	141130642	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccatcacatttccattttGctggtatacactgaccattg	7	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:141130642G>T	uc002tvj.1	-	69	11675	c.10703C>A	c.(10702-10704)GCA>GAA	p.A3568E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3568	Extracellular (Potential).|LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TTTCCATTTTGCTGGTATACA	0.353										TSP Lung(27;0.18)			T	141130642	G	T	141130642	3	4	161	1	0	0	0	0	1	0	0	0	8955	1319	46	5	3188	5	LRP1B	2	141130642	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4564045	141130642	102068731	101	88153											
KYNU	8942	broad.mit.edu	37	chr2	143799645	143799645	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaatccaaatggcattcgAgtggctccagttcctctcta	9	12	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:143799645A>G	uc002tvl.2	+	14	1432	c.1302A>G	c.(1300-1302)CGA>CGG	p.R434R	KYNU_uc010fnm.2_Silent_p.R434R	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	434					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			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATGGCATTCGagtggctccag	0.279													G	143799645	A	G	143799645	2	3	161	1	0	0	0	0	0	0	0	1	8587	291	11	3		3	KYNU	2	143799645	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2669003	143799645	99399728	102	88154											
ZEB2	9839	broad.mit.edu	37	chr2	145156048	145156048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagcagggggaaatgcGctttgaggtggaagagctgt	17	4	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:145156048G>A	uc002tvu.2	-	8	3186	c.2706C>T	c.(2704-2706)AGC>AGT	p.S902S	ZEB2_uc002tvv.2_Silent_p.S896S|ZEB2_uc010zbm.1_Silent_p.S873S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.S931S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	902						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGGAAATGCGCTTTGAGGTG	0.463													A	145156048	G	A	145156048	2	1	161	1	0	0	0	0	0	0	0	1	17621	1078	38	1		1	ZEB2	2	145156048	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1356403	145156048	98043325	103	88155											
NEB	4703	broad.mit.edu	37	chr2	152470941	152470941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccagcatgtccactgggCtgctgaacttggtcttccac	9	16	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:152470941C>T	uc010fnx.2	-	73	10912	c.10721G>A	c.(10720-10722)AGC>AAC	p.S3574N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3574	Nebulin 98.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCCACTGGGCTGCTGAACTT	0.527													T	152470941	C	T	152470941	3	4	161	1	0	0	0	0	1	0	0	0	10302	797	28	2	14660	2	NEB	2	152470941	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	7314893	152470941	90728432	104	88156											
SCN7A	6332	broad.mit.edu	37	chr2	167269610	167269610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgctgaattcataatagTgatccatccattaaatgttg	6	6	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:167269610T>C	uc002udu.1	-	21	3563	c.3436A>G	c.(3436-3438)ACT>GCT	p.T1146A	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1146					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TTCATAATAGTGATCCATCCA	0.303													C	167269610	T	C	167269610	3	2	161	1	0	0	0	0	1	0	0	0	13923	1696	59	3	1632	3	SCN7A	2	167269610	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	14798669	167269610	75929763	105	88157											
EVX2	344191	broad.mit.edu	37	chr2	176945405	176945405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgacgcccacgtgcggGtagtagtgcagcggcacgtg	17	12	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:176945405G>A	uc010zeu.1	-	3	1047	c.861C>T	c.(859-861)TAC>TAT	p.Y287Y		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	287						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCACGTGCGGGTAGTAGTGCA	0.502													A	176945405	G	A	176945405	2	1	161	1	0	0	0	0	0	0	0	1	5295	1256	44	4		4	EVX2	2	176945405	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	9675795	176945405	66253968	106	88158											
TTN	7273	broad.mit.edu	37	chr2	179391762	179391762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggatcgaatatgtatatTcacagtggcagagtcagatc	10	6	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:179391762T>C	uc010zfg.1	-	312	100473	c.100249A>G	c.(100249-100251)AAT>GAT	p.N33417D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N27112D|TTN_uc010zfi.1_Missense_Mutation_p.N27045D|TTN_uc010zfj.1_Missense_Mutation_p.N26920D|TTN_uc002umq.2_Missense_Mutation_p.N333D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34344							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGTATATTCACAGTGGCA	0.413													C	179391762	T	C	179391762	3	2	161	1	0	0	0	0	1	0	0	0	16732	1783	62	3	26	3	TTN	2	179391762	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2446357	179391762	63807611	107	88159											
TTN	7273	broad.mit.edu	37	chr2	179611264	179611264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactccatgacatgctgaTgtgttactggaggtggtagt	12	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:179611264T>C	uc002unb.2	-	46	16087	c.15863A>G	c.(15862-15864)CAT>CGT	p.H5288R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGCTGATGTGTTACTGG	0.423													C	179611264	T	C	179611264	3	2	161	1	0	0	0	0	1	0	0	0	16732	1464	51	3	94434	3	TTN	2	179611264	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	219502	179611264	63588109	108	88160											
TTN	7273	broad.mit.edu	37	chr2	179638310	179638310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctttcacaatggcctgTacacggtcatcaggcttgat	9	11	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:179638310T>C	uc010zfg.1	-	32	7697	c.7473A>G	c.(7471-7473)GTA>GTG	p.V2491V	TTN_uc010zfh.1_Silent_p.V2445V|TTN_uc010zfi.1_Silent_p.V2445V|TTN_uc010zfj.1_Silent_p.V2445V|TTN_uc002unb.2_Silent_p.V2491V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2491							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGGCCTGTACACGGTCAT	0.443													C	179638310	T	C	179638310	2	2	161	1	0	0	0	0	0	0	0	1	16732	1625	57	3		3	TTN	2	179638310	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	27046	179638310	63561063	109	88161											
COL3A1	1281	broad.mit.edu	37	chr2	189852825	189852825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggccccccaggccctcccGgtccccctggtacatctggt	11	19	1	0	rs121912926		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:189852825G>T	uc002uqj.1	+	6	664	c.547G>T	c.(547-549)GGT>TGT	p.G183C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	183	Triple-helical region.		G -> S (in EDS4).|G -> D (in EDS4).|G -> C (in EDS4).		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			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGCCCTCCCGGTCCCCCTGG	0.403													T	189852825	G	T	189852825	3	4	161	1	0	0	0	0	1	0	0	0	3688	1116	39	5	569	5	COL3A1	2	189852825	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	10214515	189852825	53346548	110	88162											
DNAH7	56171	broad.mit.edu	37	chr2	196722321	196722321	+	Frame_Shift_Del	DEL	T	T	-													tgggccccagaaatcctcaaTttttttccctgaacctgttg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:196722320_196722320AT>A	uc002utj.4	-	43	8296	c.8195_8195AT>T	c.(8194-8196)attfs	p.I2732fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2732	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I2732fs*15(1)		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						GAAATCCTCAATTTTTTTCCC	0.433													-	196722321	T	-	196722321	7	5	161	1	0	1	0	1	0	0	0	0	4606	1493	52	0	3968	0	DNAH7	2	196722321	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	6869496	196722321	46477052	111	88163											
BMPR2	659	broad.mit.edu	37	chr2	203395573	203395573	+	Frame_Shift_Del	DEL	A	A	-													acagcagaaatgtcctagtgAaaaatgatggaacctgtgtt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:203395572_203395572GA>G	uc002uzf.4	+	7	2171	c.1023_1023GA>G	c.(1021-1023)gtgfs	p.V341fs	BMPR2_uc010ftr.3_Frame_Shift_Del_p.V341fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	341	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|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						ATGTCCTAGTGAAAAATGATG	0.383													-	203395573	A	-	203395573	7	5	161	1	0	1	0	1	0	0	0	0	1471	247	9	0	1054	0	BMPR2	2	203395573	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	6673252	203395573	39803800	112	88164											
ICA1L	130026	broad.mit.edu	37	chr2	203693622	203693622	+	Frame_Shift_Del	DEL	T	T	-													gccaccaagtgctcatcctcTttttttcctgttgctttgat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:203693621_203693621CT>C	uc002uzh.1	-	2	276	c.112_112AG>G	c.(112-114)gagfs	p.E38fs	ICA1L_uc002uzi.1_Frame_Shift_Del_p.E38fs|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Frame_Shift_Del_p.E38fs|ICA1L_uc002uzk.1_Frame_Shift_Del_p.E38fs	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	38										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCATCCTCTTTTTTTCCT	0.403													-	203693622	T	-	203693622	7	5	161	1	0	1	0	1	0	0	0	0	7478	1606	56	0	1399	0	ICA1L	2	203693622	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	298049	203693622	39505751	113	88165											
DYTN	391475	broad.mit.edu	37	chr2	207572065	207572065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggctcagagtgagttccGgagctctgggatgcacttgt	15	8	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:207572065G>A	uc002vbr.1	-	3	374	c.257C>T	c.(256-258)CCG>CTG	p.P86L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	86						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGTGAGTTCCGGAGCTCTGGG	0.527													A	207572065	G	A	207572065	3	1	161	1	0	0	0	0	1	0	0	0	4861	1116	39	1	1519	1	DYTN	2	207572065	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3878443	207572065	35627308	114	88166											
PIKFYVE	200576	broad.mit.edu	37	chr2	209217472	209217472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttagatctccttgtcaTggaaaatcttttctacggga	9	7	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:209217472T>C	uc002vcz.2	+	39	5968	c.5810T>C	c.(5809-5811)ATG>ACG	p.M1937T		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1937	Catalytic.|PIPK.				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			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CTCCTTGTCATGGAAAATCTT	0.403													C	209217472	T	C	209217472	3	2	161	1	0	0	0	0	1	0	0	0	11924	1464	51	3	5971	3	PIKFYVE	2	209217472	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1645407	209217472	33981901	115	88167											
RUFY4	285180	broad.mit.edu	37	chr2	218947958	218947958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggtccaggccatgaagaGgcgggtgttggaactgatcc	15	9	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:218947958G>T	uc002vgw.2	+	12	2806	c.962G>T	c.(961-963)AGG>ATG	p.R321M	RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.R321M	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	494	FYVE-type.						metal ion binding			pancreas(1)	1		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCATGAAGAGGCGGGTGTTG	0.587													T	218947958	G	T	218947958	3	4	161	1	0	0	0	0	1	0	0	0	13741	1000	35	5	1515	5	RUFY4	2	218947958	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	9730486	218947958	24251415	116	88168											
ATG9A	79065	broad.mit.edu	37	chr2	220090164	220090164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgagcaggcaaaaaggCgtctggcagagtgaccttga	14	8	1	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:220090164C>T	uc002vke.1	-	6	529	c.343G>A	c.(343-345)GCC>ACC	p.A115T	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A115T	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	115	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAAAAAGGCGTCTGGCAGA	0.517													T	220090164	C	T	220090164	3	4	161	1	0	0	0	0	1	0	0	0	1102	768	27	1	2220	1	ATG9A	2	220090164	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1142206	220090164	23109209	117	88169											
SPEG	10290	broad.mit.edu	37	chr2	220315865	220315865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtccggcagagtcttcGgatgactcctacgtgtccgc	12	13	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:220315865G>A	uc010fwg.2	+	5	2121	c.2121G>A	c.(2119-2121)TCG>TCA	p.S707S	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	707					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		CAGAGTCTTCGGATGACTCCT	0.602													A	220315865	G	A	220315865	2	1	161	1	0	0	0	0	0	0	0	1	15035	1103	39	1		1	SPEG	2	220315865	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	225701	220315865	22883508	118	88170											
DOCK10	55619	broad.mit.edu	37	chr2	225710332	225710332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatatggtgtttctcatGgagttgtgttggtagctcaa	11	5	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:225710332G>A	uc010fwz.1	-	20	2502	c.2263C>T	c.(2263-2265)CAT>TAT	p.H755Y	DOCK10_uc002vob.2_Missense_Mutation_p.H749Y	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	755	DHR-1.						GTP binding			ovary(2)	2		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)		TGTTTCTCATGGAGTTGTGTT	0.388													A	225710332	G	A	225710332	3	1	161	1	0	0	0	0	1	0	0	0	4685	1348	47	4	4445	4	DOCK10	2	225710332	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5394467	225710332	17489041	119	88171											
WDR69	164781	broad.mit.edu	37	chr2	228786191	228786191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaatctgggatgctcagaCtggccagtgcctccaggttc	12	11	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:228786191C>T	uc002vpn.1	+	12	1206	c.1127C>T	c.(1126-1128)ACT>ATT	p.T376I	WDR69_uc010zlw.1_Missense_Mutation_p.T361I|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	376	WD 7.									breast(1)	1		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GATGCTCAGACTGGCCAGTGC	0.433													T	228786191	C	T	228786191	3	4	161	1	0	0	0	0	1	0	0	0	17316	565	20	4	1173	4	WDR69	2	228786191	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3075859	228786191	14413182	120	88172											
ANKMY1	51281	broad.mit.edu	37	chr2	241447085	241447085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggttggggtcagctccCtgggtcaggagctccttcac	15	12	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:241447085C>A	uc002vyz.1	-	12	2380	c.2151G>T	c.(2149-2151)CAG>CAT	p.Q717H	ANKMY1_uc002vza.1_Missense_Mutation_p.Q493H|ANKMY1_uc010fzd.1_Missense_Mutation_p.Q806H|ANKMY1_uc002vzb.1_Missense_Mutation_p.Q478H|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Missense_Mutation_p.Q540H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	717	ANK 6.						zinc ion binding			central_nervous_system(1)	1		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)		GGTCAGCTCCCTGGGTCAGGA	0.602													A	241447085	C	A	241447085	3	1	161	1	0	0	0	0	1	0	0	0	634	680	24	5	698	5	ANKMY1	2	241447085	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	12660894	241447085	1752288	121	88173											
SNED1	25992	broad.mit.edu	37	chr2	241973177	241973177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacattccagactgtgctcaTcacagacggcaagctctcct	7	15	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:241973177T>C	uc002wah.1	+	3	527	c.527T>C	c.(526-528)ATC>ACC	p.I176T		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	176	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		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)		ACTGTGCTCATCACAGACGGC	0.632													C	241973177	T	C	241973177	3	2	161	1	0	0	0	0	1	0	0	0	14845	1435	50	3	537	3	SNED1	2	241973177	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	526092	241973177	1226196	122	88174											
NEU4	129807	broad.mit.edu	37	chr2	242755772	242755773	+	Frame_Shift_Ins	INS	-	-	C													gccctcgctgctccccgtgcINScccccgggcccaccctgctg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:242755771_242755772G>GC	uc002wcp.2	+	1	623_624	c.129_130G>GC	c.(127-132)gtgcccfs	p.V43fs	NEU4_uc010fzr.3_Frame_Shift_Ins_p.V30fs|NEU4_uc002wcm.3_Frame_Shift_Ins_p.V30fs|NEU4_uc002wco.2_Frame_Shift_Ins_p.V30fs|NEU4_uc002wcn.2_Frame_Shift_Ins_p.V42fs	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	30						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)		TGCTCCCCGTGCCCCCCGGGCC	0.723													C	242755773	-	C	242755772	7	5	161	1	0	1	1	0	0	0	0	0	10344	739	26	0	136	0	NEU4	2	242755772	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	782595	242755772	443601	123	88175											
PDCD1	5133	broad.mit.edu	37	chr2	242795104	242795104	+	Frame_Shift_Del	DEL	G	G	-													agcagggctggggagaaggtGggggggttccagggcctgtc					rs41444844	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:242795104delG	uc002wcq.3	-	2	173	c.105delC	c.(103-105)CCCfs	p.P35fs	PDCD1_uc010fzs.2_5'UTR|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	35	Ig-like V-type.|Extracellular (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		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)		GGGAGAAGGTGGGGGGGTTCC	0.632													-	242795104	G	-	242795104	7	5	161	1	0	1	0	1	0	0	0	0	11615	1335	47	0	777	0	PDCD1	2	242795104	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	39332	242795104	404269	124	88176											
IL5RA	3568	broad.mit.edu	37	chr3	3134038	3134038	+	Frame_Shift_Del	DEL	T	T	-													atgaatgcattggtcatcaaTttttctatctaagtggggaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:3134038delT	uc011ask.1	-	10	1508	c.864delA	c.(862-864)AAAfs	p.K288fs	IL5RA_uc010hbq.2_Intron|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Frame_Shift_Del_p.K288fs|IL5RA_uc011asl.1_Frame_Shift_Del_p.K288fs|IL5RA_uc011asm.1_Frame_Shift_Del_p.K288fs|IL5RA_uc010hbt.2_Frame_Shift_Del_p.K288fs|IL5RA_uc011asn.1_Frame_Shift_Del_p.K288fs|IL5RA_uc010hbu.2_Frame_Shift_Del_p.K288fs|IL5RA_uc010hbp.2_5'UTR	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	288	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGGTCATCAATTTTTCTATCT	0.408													-	3134038	T	-	3134038	7	5	161	1	0	1	0	1	0	0	0	0	7700	1490	52	0	440	0	IL5RA	3	3134038	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08		3134038	194888392	125	88177											
SRGAP3	9901	broad.mit.edu	37	chr3	9057396	9057396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctcgttcattttgatcGtccacaagggggtcttcacc	8	11	4	1	rs141284390	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:9057396G>A	uc003brf.1	-	15	2374	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	SRGAP3_uc003brg.1_Silent_p.D542D|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	566	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CATTTTGATCGTCCACAAGGG	0.448			T	RAF1	pilocytic astrocytoma								A	9057396	G	A	9057396	2	1	161	1	0	0	0	0	0	0	0	1	15146	1136	40	1		1	SRGAP3	3	9057396	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5923358	9057396	188965034	126	88178											
C3orf20	84077	broad.mit.edu	37	chr3	14724444	14724444	+	Frame_Shift_Del	DEL	C	C	-													cctggaggtcagctttggagCccccctggtggtgctcatgg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:14724443_14724443GC>G	uc003byy.3	+	2	675	c.223_223GC>G	c.(223-225)gccfs	p.A75fs	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Frame_Shift_Del_p.A75fs	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	75						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGCTTTGGAGCCCCCCTGGT	0.577													-	14724444	C	-	14724444	7	5	161	1	0	1	0	1	0	0	0	0	2213	739	26	0	226	0	C3orf20	3	14724444	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5667048	14724444	183297986	127	88179											
TTC21A	199223	broad.mit.edu	37	chr3	39166987	39166987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccgtacttcctggtctgCattgctaaggagtacttgct	10	11	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:39166987C>T	uc003cjc.2	+	11	1557	c.1380C>T	c.(1378-1380)TGC>TGT	p.C460C	TTC21A_uc003cje.2_Silent_p.C460C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.C411C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	460							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCTGGTCTGCATTGCTAAGG	0.552													T	39166987	C	T	39166987	2	4	161	1	0	0	0	0	0	0	0	1	16684	718	25	2		2	TTC21A	3	39166987	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	24442543	39166987	158855443	128	88180											
TRAK1	22906	broad.mit.edu	37	chr3	42244155	42244155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgggcacgcactcccGcttctccgagttcaccggct	10	18	2	0	rs149693845		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:42244155G>A	uc003cky.2	+	13	1871	c.1655G>A	c.(1654-1656)CGC>CAC	p.R552H	TRAK1_uc011azh.1_Missense_Mutation_p.R552H|TRAK1_uc011azi.1_Missense_Mutation_p.R552H|TRAK1_uc003ckz.3_Missense_Mutation_p.R478H|TRAK1_uc011azj.1_Missense_Mutation_p.R478H|TRAK1_uc003cla.2_Missense_Mutation_p.R494H	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	552					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ACGCACTCCCGCTTCTCCGAG	0.632													A	42244155	G	A	42244155	3	1	161	1	0	0	0	0	1	0	0	0	16446	1087	38	1	1821	1	TRAK1	3	42244155	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3077168	42244155	155778275	129	88181											
SETD2	29072	broad.mit.edu	37	chr3	47161907	47161908	+	Frame_Shift_Ins	INS	-	-	T													ctctctatttcctgcctcctINSttttttaagaggccctctat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47161906_47161907C>CT	uc003cqv.3	-	2	4272_4273	c.4186_4187G>AG	c.(4186-4188)aggfs	p.R1396fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.R1407fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1407					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)		TTCCTGCCTCCTTTTTTTAAGA	0.391			"N, F, S, Mis"		clear cell renal carcinoma								T	47161908	-	T	47161907	7	5	161	1	0	1	1	0	0	0	0	0	14131	1608	56	0	3551	0	SETD2	3	47161907	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	4917752	47161907	150860523	130	88182											
KLHL18	23276	broad.mit.edu	37	chr3	47385423	47385423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgcatccctctcctcAccatctaaggcagaggatgg	11	13	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47385423A>G	uc003crd.2	+	10	1843	c.1717A>G	c.(1717-1719)ACC>GCC	p.T573A	KLHL18_uc011bav.1_Missense_Mutation_p.T461A	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	573											0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCCTCTCCTCACCATCTAAGG	0.592													G	47385423	A	G	47385423	3	3	161	1	0	0	0	0	1	0	0	0	8373	159	6	3	1755	3	KLHL18	3	47385423	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	223516	47385423	150637007	131	88183											
PTPN23	25930	broad.mit.edu	37	chr3	47453351	47453351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctggcattgagcagcGtccgcagcaccgaaacccat	11	14	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47453351G>A	uc003crf.1	+	21	4063	c.3967G>A	c.(3967-3969)GTC>ATC	p.V1323I	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.V1193I|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1323	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTGAGCAGCGTCCGCAGCAC	0.622													A	47453351	G	A	47453351	3	1	161	1	0	0	0	0	1	0	0	0	12788	1145	40	1	4049	1	PTPN23	3	47453351	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	67928	47453351	150569079	132	88184											
SMARCC1	6599	broad.mit.edu	37	chr3	47651742	47651742	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatttgctgtcgtgctcGtaattcagcatacttcagct	7	11	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47651742G>A	uc003crq.2	-	26	2975	c.2857C>T	c.(2857-2859)CGA>TGA	p.R953*	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Nonsense_Mutation_p.R844*	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	953					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			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGTCGTGCTCGTAATTCAGCA	0.532													A	47651742	G	A	47651742	4	1	161	1	0	0	0	0	0	1	0	0	14775	1153	40	1	472	1	SMARCC1	3	47651742	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	198391	47651742	150370688	133	88185											
PLXNB1	5364	broad.mit.edu	37	chr3	48465485	48465485	+	Frame_Shift_Del	DEL	C	C	-													ttgtgatgggtggaatgccaCcccccacacccctgctggtg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:48465485delC	uc003csw.2	-	3	806	c.536delG	c.(535-537)GGTfs	p.G179fs	PLXNB1_uc003csu.2_Frame_Shift_Del_p.G179fs|PLXNB1_uc003csx.2_Frame_Shift_Del_p.G179fs|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	179	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAATGCCACCCCCCACACC	0.672													-	48465485	C	-	48465485	7	5	161	1	0	1	0	1	0	0	0	0	12123	507	18	0	6015	0	PLXNB1	3	48465485	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	813743	48465485	149556945	134	88186											
IP6K1	9807	broad.mit.edu	37	chr3	49775738	49775738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcgggagtgtttgcgcCgaggttgctcccgttctgtt	15	11	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:49775738C>T	uc003cxm.1	-	3	656	c.341G>A	c.(340-342)CGG>CAG	p.R114Q	IP6K1_uc003cxn.1_5'UTR|IP6K1_uc011bcv.1_5'UTR|IP6K1_uc003cxo.2_Missense_Mutation_p.R114Q	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	114					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GTGTTTGCGCCGAGGTTGCTC	0.552													T	49775738	C	T	49775738	3	4	161	1	0	0	0	0	1	0	0	0	7788	652	23	1	1000	1	IP6K1	3	49775738	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1310253	49775738	148246692	135	88187											
GNAT1	2779	broad.mit.edu	37	chr3	50231585	50231585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatccactgcttcgagggCgtgacctgcatcatcttcat	10	12	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:50231585C>T	uc003cym.2	+	6	755	c.639C>T	c.(637-639)GGC>GGT	p.G213G	GNAT1_uc003cyl.2_Silent_p.G213G	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	213					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTTCGAGGGCGTGACCTGCA	0.682													T	50231585	C	T	50231585	2	4	161	1	0	0	0	0	0	0	0	1	6511	755	27	1		1	GNAT1	3	50231585	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	455847	50231585	147790845	136	88188											
DNAH1	25981	broad.mit.edu	37	chr3	52426908	52426908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgcgcatggagtacatAcccgtggccatccgcaccca	10	16	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:52426908A>G	uc011bef.1	+	65	10602	c.10341A>G	c.(10339-10341)ATA>ATG	p.I3447M	DNAH1_uc003ddv.2_Missense_Mutation_p.I305M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3512					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			large_intestine(3)	3				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)		TGGAGTACATACCCGTGGCCA	0.572													G	52426908	A	G	52426908	3	3	161	1	0	0	0	0	1	0	0	0	4597	381	14	3	10595	3	DNAH1	3	52426908	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2195323	52426908	145595522	137	88189											
NISCH	11188	broad.mit.edu	37	chr3	52512141	52512141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaccttgtgcatctggaccTgtcctacaacaagctctcct	6	14	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:52512141T>C	uc011beg.1	+	11	1088	c.1016T>C	c.(1015-1017)CTG>CCG	p.L339P	NISCH_uc003ded.3_Missense_Mutation_p.L339P|NISCH_uc003dec.1_Missense_Mutation_p.L339P	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	339	LRR 3.|Necessary for homooligomerization and targeting to endosomes.|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				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)		CATCTGGACCTGTCCTACAAC	0.537													C	52512141	T	C	52512141	3	2	161	1	0	0	0	0	1	0	0	0	10432	1580	55	3	1054	3	NISCH	3	52512141	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	85233	52512141	145510289	138	88190											
STAB1	23166	broad.mit.edu	37	chr3	52551354	52551354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaattaacagctgtctcaTccaccacgggggctgccaca	9	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:52551354T>C	uc003dej.2	+	43	4582	c.4508T>C	c.(4507-4509)ATC>ACC	p.I1503T	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1503	EGF-like 12.|Extracellular (Potential).				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		AGCTGTCTCATCCACCACGGG	0.612													C	52551354	T	C	52551354	3	2	161	1	0	0	0	0	1	0	0	0	15236	1435	50	3	4678	3	STAB1	3	52551354	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	39213	52551354	145471076	139	88191											
CACNA1D	776	broad.mit.edu	37	chr3	53785815	53785815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaaagcacgtcccttgCggagatacatccccaaaaac	7	14	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:53785815C>T	uc003dgv.3	+	28	3719	c.3556C>T	c.(3556-3558)CGG>TGG	p.R1186W	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1206W|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1186W|CACNA1D_uc003dgw.3_Missense_Mutation_p.R853W|CACNA1D_uc003dgx.1_Missense_Mutation_p.R334W	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1186	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	ACGTCCCTTGCGGAGATACAT	0.512													T	53785815	C	T	53785815	3	4	161	1	0	0	0	0	1	0	0	0	2541	759	27	1	3838	1	CACNA1D	3	53785815	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1234461	53785815	144236615	140	88192											
LRIG1	26018	broad.mit.edu	37	chr3	66434487	66434487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacagctgtaaacccctgCgtcatctattttcacatcag	6	12	4	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:66434487C>T	uc003dmx.2	-	14	2013	c.1999G>A	c.(1999-2001)GCA>ACA	p.A667T	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A287T|LRIG1_uc003dmw.2_Missense_Mutation_p.A333T|LRIG1_uc010hnz.2_Missense_Mutation_p.A383T|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	667	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TAAACCCCTGCGTCATCTATT	0.493													T	66434487	C	T	66434487	3	4	161	1	0	0	0	0	1	0	0	0	8944	768	27	1	1306	1	LRIG1	3	66434487	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	12648672	66434487	131587943	141	88193											
LRIG1	26018	broad.mit.edu	37	chr3	66465353	66465353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtactcacagttgtgtcAgcctgggtagcttgaatgct	11	9	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:66465353A>G	uc003dmx.2	-	5	652	c.638T>C	c.(637-639)CTG>CCG	p.L213P	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.L213P	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	213	Extracellular (Potential).|LRR 7.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CAGTTGTGTCAGCCTGGGTAG	0.488													G	66465353	A	G	66465353	3	3	161	1	0	0	0	0	1	0	0	0	8944	188	7	3	2703	3	LRIG1	3	66465353	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	30866	66465353	131557077	142	88194											
PPP4R2	151987	broad.mit.edu	37	chr3	73047240	73047240	+	Frame_Shift_Del	DEL	G	G	-													tcatctagattttgagaagaGggggaaaaaggaagtttgtc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:73047239_73047239AG>A	uc003dph.1	+	1	116	c.46_46AG>A	c.(46-48)aggfs	p.R16fs	PPP4R2_uc003dpi.1_Frame_Shift_Del_p.R16fs	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	16					RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TTTTGAGAAGAGGGGGAAAAA	0.358													-	73047240	G	-	73047240	7	5	161	1	0	1	0	1	0	0	0	0	12404	1000	35	0	53	0	PPP4R2	3	73047240	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6581887	73047240	124975190	143	88195											
PDZRN3	23024	broad.mit.edu	37	chr3	73433871	73433871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgctgaagggcaggtcgcCgctgcccaaggtgtcctggc	16	12	0	1	rs139110477		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:73433871C>T	uc003dpl.1	-	10	1942	c.1846G>A	c.(1846-1848)GGC>AGC	p.G616S	PDZRN3_uc011bgh.1_Missense_Mutation_p.G273S|PDZRN3_uc010hoe.1_Missense_Mutation_p.G314S|PDZRN3_uc011bgf.1_Missense_Mutation_p.G333S|PDZRN3_uc011bgg.1_Missense_Mutation_p.G336S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	616							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)		GGCAGGTCGCCGCTGCCCAAG	0.657													T	73433871	C	T	73433871	3	4	161	1	0	0	0	0	1	0	0	0	11709	652	23	1	1358	1	PDZRN3	3	73433871	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	386631	73433871	124588559	144	88196											
ROBO2	6092	broad.mit.edu	37	chr3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C													ggccaatgtccctctacctcINScccccccagtccagcccctt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					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	p.V1079fs*22(2)|p.V1095fs*22(1)		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)		TCCCTCTACCTCCCCCCCCAGT	0.431													C	77657039	-	C	77657038	7	5	161	1	0	1	1	0	0	0	0	0	13514	855	30	0	3310	0	ROBO2	3	77657038	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	4223167	77657038	120365392	145	88197											
CRYBG3	131544	broad.mit.edu	37	chr3	97595968	97595968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgacaagaggagagagaCagattatagtgacaaaggat	12	3	0	6			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:97595968C>T	uc003drx.2	+	1	150	c.86C>T	c.(85-87)ACA>ATA	p.T29I		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						AGGAGAGAGACAGATTATAGT	0.383													T	97595968	C	T	97595968	3	4	161	1	0	0	0	0	1	0	0	0	3913	478	17	4	88	4	CRYBG3	3	97595968	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	19938930	97595968	100426462	146	88198											
GABRR3	200959	broad.mit.edu	37	chr3	97731387	97731387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtctttccagtaatgccTgagataaaaagtcattgtaa	7	8	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:97731387T>C	uc011bgr.1	-	4	331	c.331A>G	c.(331-333)AGG>GGG	p.R111G		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	111	Extracellular (Potential).				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				0						CAGTAATGCCTGAGATAAAAA	0.413													C	97731387	T	C	97731387	3	2	161	1	0	0	0	0	1	0	0	0	6178	1579	55	3	1095	3	GABRR3	3	97731387	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	135419	97731387	100291043	147	88199											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					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)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	161	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	16326616	114058003	83964427	148	88200											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368045	+	Splice_Site	INS	-	-	G													cacttcatccttcggctctgINSgggggggcacaaggaaggac					rs138786404		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin 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)		CCTTCGGCTCTGGGGGGGGCAC	0.624													G	123368045	-	G	123368044	8	5	161	1	0	1	1	0	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	9310041	123368044	74654386	149	88201											
CCDC14	64770	broad.mit.edu	37	chr3	123633732	123633732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcacgagaagtgaacGttgaaaacgaagagatgctc	11	7	2	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:123633732G>A	uc011bjx.1	-	13	2847	c.2756C>T	c.(2755-2757)ACG>ATG	p.T919M	CCDC14_uc003egv.3_Missense_Mutation_p.T560M|CCDC14_uc003egx.3_Missense_Mutation_p.T719M|CCDC14_uc010hrt.2_Missense_Mutation_p.T878M|CCDC14_uc003egy.3_Missense_Mutation_p.T719M|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	919						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGAAGTGAACGTTGAAAACGA	0.443													A	123633732	G	A	123633732	3	1	161	1	0	0	0	0	1	0	0	0	2773	1145	40	1	109	1	CCDC14	3	123633732	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	265688	123633732	74388698	150	88202											
SEC61A1	29927	broad.mit.edu	37	chr3	127783746	127783746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttgaaggtgctatcatcGcacttttccatctgctggcc	8	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:127783746G>A	uc003ekb.2	+	8	827	c.643G>A	c.(643-645)GCA>ACA	p.A215T	RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Missense_Mutation_p.A162T|SEC61A1_uc003ekd.2_Missense_Mutation_p.A95T|SEC61A1_uc003ekg.2_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	215	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TGCTATCATCGCACTTTTCCA	0.507													A	127783746	G	A	127783746	3	1	161	1	0	0	0	0	1	0	0	0	14000	1087	38	1	673	1	SEC61A1	3	127783746	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4150014	127783746	70238684	151	88203											
NPHP3	27031	broad.mit.edu	37	chr3	132337509	132337509	+	Frame_Shift_Del	DEL	A	A	-													cagttaaagacatctggagcAaaaaagcattttcctgtttc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:132337508_132337508CA>C	uc003eov.4	-	10	1764	c.1384_1384TG>G	c.(1384-1386)gctfs	p.A462fs	NPHP3_uc011blr.1_Frame_Shift_Del_p.A73fs	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|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	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						ACATCTGGAGCAAAAAAGCAT	0.373													-	132337509	A	-	132337509	7	5	161	1	0	1	0	1	0	0	0	0	10580	127	5	0		0	NPHP3	3	132337509	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	4553763	132337509	65684921	152	88204											
CLSTN2	64084	broad.mit.edu	37	chr3	140122508	140122508	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatccatggccaggagctGccctttgaggctgtggtgct	14	10	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:140122508G>T	uc003etn.2	+	3	460	c.270G>T	c.(268-270)CTG>CTT	p.L90L	CLSTN2_uc003etm.2_Silent_p.L90L	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	90	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						GCCAGGAGCTGCCCTTTGAGG	0.527										HNSCC(16;0.037)			T	140122508	G	T	140122508	2	4	161	1	0	0	0	0	0	0	0	1	3562	1306	46	5		5	CLSTN2	3	140122508	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7784999	140122508	57899922	153	88205											
TRIM42	287015	broad.mit.edu	37	chr3	140407105	140407105	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttcagcacccacagcctCggcaaccagcacatatacca	5	17	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:140407105C>T	uc003eto.1	+	3	1772	c.1581C>T	c.(1579-1581)CTC>CTT	p.L527L		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	527						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CCCACAGCCTCGGCAACCAGC	0.582													T	140407105	C	T	140407105	2	4	161	1	0	0	0	0	0	0	0	1	16514	871	31	1		1	TRIM42	3	140407105	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	284597	140407105	57615325	154	88206											
RASA2	5922	broad.mit.edu	37	chr3	141326548	141326548	+	Frame_Shift_Del	DEL	A	A	-													gcaatctacacaatcccagtAaaaaacattcttgctgtgga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:141326547_141326547TA>T	uc010huq.1	+	20	1973	c.1973_1973TA>T	c.(1972-1974)gtafs	p.V658fs	RASA2_uc003etz.1_Frame_Shift_Del_p.V654fs|RASA2_uc003eua.1_Frame_Shift_Del_p.V655fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	654	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	Ras GTPase activator activity|metal ion binding			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						ACAATCCCAGTAAAAAACATT	0.274													-	141326548	A	-	141326548	7	5	161	1	0	1	0	1	0	0	0	0	13061	349	13	0	2040	0	RASA2	3	141326548	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	919443	141326548	56695882	155	88207											
SR140	23350	broad.mit.edu	37	chr3	142775212	142775212	+	Frame_Shift_Del	DEL	A	A	-													gatcacggtctagatctcctAaaaaatcaggaaagaagtcc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:142775212delA	uc003evh.1	+	28	3109	c.3010delA	c.(3010-3012)AAAfs	p.K1004fs	SR140_uc003evi.1_Frame_Shift_Del_p.K595fs|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Frame_Shift_Del_p.K1003fs	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	1004					RNA processing	nucleus	nucleotide binding|RNA binding				0						TAGATCTCCTAAAAAATCAGG	0.383													-	142775212	A	-	142775212	7	5	161	1	0	1	0	1	0	0	0	0	15130	363	13	0	3120	0	SR140	3	142775212	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1448664	142775212	55247218	156	88208											
SIAH2	6478	broad.mit.edu	37	chr3	150460067	150460067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatgaatcgaacggggcGtggcctcccaggtcaatctc	12	13	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:150460067G>A	uc003eyi.2	-	2	1463	c.836C>T	c.(835-837)ACG>ATG	p.T279M		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	279	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			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGAACGGGGCGTGGCCTCCCA	0.547													A	150460067	G	A	150460067	3	1	161	1	0	0	0	0	1	0	0	0	14300	1145	40	1	142	1	SIAH2	3	150460067	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7684855	150460067	47562363	157	88209											
IGSF10	285313	broad.mit.edu	37	chr3	151176381	151176381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaatgtgcagtgtacctcCgtaggcatataacaggcaca	10	10	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:151176381C>T	uc011bod.1	-	1	117	c.117G>A	c.(115-117)ACG>ACA	p.T39T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	39	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGTACCTCCGTAGGCATAT	0.562													T	151176381	C	T	151176381	2	4	161	1	0	0	0	0	0	0	0	1	7597	639	23	1		1	IGSF10	3	151176381	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	716314	151176381	46846049	158	88210											
ZBBX	79740	broad.mit.edu	37	chr3	167016150	167016150	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaacgatgagaaggaagtaAgttgagtctttcatttgtat	10	3	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:167016150A>C	uc003fep.2	-	18	2145	c.1822T>G	c.(1822-1824)TTA>GTA	p.L608V	ZBBX_uc011bpc.1_Missense_Mutation_p.L608V|ZBBX_uc003feq.2_Missense_Mutation_p.L579V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	608						intracellular	zinc ion binding			ovary(2)	2						GAAGGAAGTAAGTTGAGTCTT	0.328													C	167016150	A	C	167016150	3	2	161	1	0	0	0	0	1	0	0	0	17513	69	3	5	596	5	ZBBX	3	167016150	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	15839769	167016150	31006280	159	88211											
KNG1	3827	broad.mit.edu	37	chr3	186459703	186459704	+	Frame_Shift_Ins	INS	-	-	A													gtcatggccacggaaaacatINSaaaaataaaggcaaaaagaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:186459703_186459704insA	uc011bsa.1	+	10	1730_1731	c.1518_1519insA	c.(1516-1521)CATAAAfs	p.H506fs	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	506_507	|His-rich.				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			skin(1)	1	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)	ACGGAAAACATAAAAATAAAGG	0.421													A	186459704	-	A	186459703	7	5	161	1	0	1	1	0	0	0	0	0	8427	1403	49	0	1556	0	KNG1	3	186459703	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	19443553	186459703	11562727	160	88212	430	2									
KNG1	3827	broad.mit.edu	37	chr3	186459704	186459705	+	Frame_Shift_Ins	INS	-	-	A													tcatggccacggaaaacataINSaaaataaaggcaaaaagaat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:186459703_186459704T>TA	uc011bsa.2	+	9	1752_1753	c.1518_1519T>TA	c.(1516-1521)cataaafs	p.H506fs	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	506	His-rich.				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)	ACGGAAAACATAAAAATAAAGG	0.421													A	186459705	-	A	186459704	7	5	161	1	0	1	1	0	0	0	0	0	8427	363	13	0	1557	0	KNG1	3	186459704	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	186459704	11562726	161	88213	430	2									
EIF4A2	1974	broad.mit.edu	37	chr3	186502807	186502807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagacagccacatttgctAtttccatcctgcaacagttg	7	12	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:186502807A>G	uc003fqs.2	+	4	304	c.265A>G	c.(265-267)ATT>GTT	p.I89V	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.I90V|EIF4A2_uc003fqv.2_Intron|EIF4A2_uc003fqw.2_Intron|EIF4A2_uc011bsb.1_5'Flank|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	89	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			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CACATTTGCTATTTCCATCCT	0.443			T	BCL6	NHL								G	186502807	A	G	186502807	3	3	161	1	0	0	0	0	1	0	0	0	5025	449	16	3	279	3	EIF4A2	3	186502807	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	43103	186502807	11519623	162	88214											
TM4SF19	116211	broad.mit.edu	37	chr3	196050848	196050848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagacggagttccagagcGaacggtcatacagataattc	12	9	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:196050848G>A	uc003fwl.1	-	5	595	c.470C>T	c.(469-471)TCG>TTG	p.S157L	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.R38Q|TM4SF19_uc010iad.1_Missense_Mutation_p.R156C|TM4SF19_uc011btv.1_Missense_Mutation_p.S131L	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	157	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GTTCCAGAGCGAACGGTCATA	0.542													A	196050848	G	A	196050848	3	1	161	1	0	0	0	0	1	0	0	0	15965	1059	37	1	163	1	TM4SF19	3	196050848	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	9548041	196050848	1971582	163	88215											
MFSD7	84179	broad.mit.edu	37	chr4	680446	680446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaccaagtcctcagcaaTgacgtcagccacaggtgcaa	10	13	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:680446T>C	uc003gay.2	-	2	226	c.169A>G	c.(169-171)ATT>GTT	p.I57V	MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.I57V|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Missense_Mutation_p.I57V|MFSD7_uc003gbb.1_5'UTR	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	57					transmembrane transport	integral to membrane					0						TCCTCAGCAATGACGTCAGCC	0.627													C	680446	T	C	680446	3	2	161	1	0	0	0	0	1	0	0	0	9537	1464	51	3	1546	3	MFSD7	4	680446	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08		680446	190473830	164	88216											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661594	+	Frame_Shift_Ins	INS	-	-	C													tcacgtgtggtatcatggacINSccccccgtcactgatgacat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:2661592_2661593A>AC	uc010ick.3	+	8	1284_1285	c.1283_1284A>AC	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										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						GGTATCATGGACCCCCCCGTCA	0.525													C	2661594	-	C	2661593	7	5	161	1	0	1	1	0	0	0	0	0	5524	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1981147	2661593	188492683	165	88217											
LIAS	11019	broad.mit.edu	37	chr4	39471655	39471655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtaaggttcgtgatcctCgggccaattttgatcagtcc	10	11	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:39471655C>T	uc003guf.2	+	8	827	c.754C>T	c.(754-756)CGG>TGG	p.R252W	LIAS_uc003gug.2_Missense_Mutation_p.R252W|LIAS_uc003guh.2_Missense_Mutation_p.R209W	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor	252					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TCGTGATCCTCGGGCCAATTT	0.418													T	39471655	C	T	39471655	3	4	161	1	0	0	0	0	1	0	0	0	8778	875	31	1	784	1	LIAS	4	39471655	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	36810062	39471655	151682621	166	88218											
PHOX2B	8929	broad.mit.edu	37	chr4	41748277	41748277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgttcttggccgcggcCgctgcggctgccgctgcgcg	17	16	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:41748277C>T	uc003gwf.3	-	3	852	c.492G>A	c.(490-492)GCG>GCA	p.A164A		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	164	Poly-Ala.				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)|lung(2)|ovary(2)|central_nervous_system(1)	12						TGGCCGCGGCCGCTGCGGCTG	0.662			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	41748277	C	T	41748277	2	4	161	1	0	0	0	0	0	0	0	1	11859	639	23	1		1	PHOX2B	4	41748277	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2276622	41748277	149405999	167	88219											
GRXCR1	389207	broad.mit.edu	37	chr4	43032468	43032468	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagcaagatgtccatgtttCgaaactgcttcacagactct	9	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:43032468C>T	uc003gwt.2	+	4	784	c.784C>T	c.(784-786)CGA>TGA	p.R262*		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	262					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			ovary(1)	1						GTCCATGTTTCGAAACTGCTT	0.473													T	43032468	C	T	43032468	4	4	161	1	0	0	0	0	0	1	0	0	6812	876	31	1	798	1	GRXCR1	4	43032468	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1284191	43032468	148121808	168	88220											
KCTD8	386617	broad.mit.edu	37	chr4	44450458	44450458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggcggcggcggccgacGcgccgggcgagctggacgag	22	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:44450458G>A	uc003gwu.2	-	1	367	c.83C>T	c.(82-84)GCG>GTG	p.A28V		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	28						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						ggcggccgacgcgccgggcgA	0.527										HNSCC(17;0.042)			A	44450458	G	A	44450458	3	1	161	1	0	0	0	0	1	0	0	0	8115	1087	38	1	1346	1	KCTD8	4	44450458	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1417990	44450458	146703818	169	88221											
GABRA2	2555	broad.mit.edu	37	chr4	46314590	46314590	+	Frame_Shift_Del	DEL	T	T	-													gtcatattatgagctactgaTtttttcccattgtgaaaaaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:46314590delT	uc003gxc.3	-	4	1072	c.399delA	c.(397-399)AAAfs	p.K133fs	GABRA2_uc010igc.2_Frame_Shift_Del_p.K133fs|GABRA2_uc011bzc.1_Frame_Shift_Del_p.K78fs|GABRA2_uc003gxe.2_Frame_Shift_Del_p.K133fs	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	133	Extracellular (Probable).				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			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGCTACTGATTTTTTCCCAT	0.348													-	46314590	T	-	46314590	7	5	161	1	0	1	0	1	0	0	0	0	6161	1490	52	0	980	0	GABRA2	4	46314590	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1864132	46314590	144839686	170	88222											
UGT2A1	10941	broad.mit.edu	37	chr4	70460308	70460308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgagcaatgttatcaggCtgatcagcaaacatgggaac	11	7	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:70460308C>T	uc003hem.3	-	5	1254	c.1191G>A	c.(1189-1191)CAG>CAA	p.Q397Q	UGT2A1_uc011caq.1_Silent_p.Q563Q|UGT2A1_uc010ihu.2_Silent_p.Q397Q|UGT2A1_uc010iht.2_Silent_p.Q353Q|UGT2A1_uc010ihs.2_Silent_p.Q398Q	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	397	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						TGTTATCAGGCTGATCAGCAA	0.453													T	70460308	C	T	70460308	2	4	161	1	0	0	0	0	0	0	0	1	16950	796	28	2		2	UGT2A1	4	70460308	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	24145718	70460308	120693968	171	88223											
AMBN	258	broad.mit.edu	37	chr4	71472057	71472057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaaaggccctgagaaCgaagaaggaggtgcacaagg	14	10	0	2	rs145240720		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:71472057C>T	uc003hfl.2	+	13	1029	c.954C>T	c.(952-954)AAC>AAT	p.N318N		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	318					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			GCCCTGAGAACGAAGAAGGAG	0.577													T	71472057	C	T	71472057	2	4	161	1	0	0	0	0	0	0	0	1	563	535	19	1		1	AMBN	4	71472057	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1011749	71472057	119682219	172	88224											
ANKRD17	26057	broad.mit.edu	37	chr4	74005813	74005813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttggtaagttggtcAgcatgagccagttccaagga	11	9	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:74005813A>G	uc003hgp.2	-	15	2637	c.2520T>C	c.(2518-2520)GCT>GCC	p.A840A	ANKRD17_uc003hgo.2_Silent_p.A727A|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Silent_p.A840A|ANKRD17_uc011cbd.1_Silent_p.A405A	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	840					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			TAAGTTGGTCAGCATGAGCCA	0.423													G	74005813	A	G	74005813	2	3	161	1	0	0	0	0	0	0	0	1	646	175	7	3		3	ANKRD17	4	74005813	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2533756	74005813	117148463	173	88225											
SDAD1	55153	broad.mit.edu	37	chr4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-													acacctctggttttttcttcTttttttgtttctgaaaggga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:76891520_76891520CT>C	uc003hje.4	-	9	944	c.825_825AG>G	c.(823-825)aagfs	p.K275fs	SDAD1_uc003hjf.4_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.2_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	275					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)			GTTTTTTCTTCTTTTTTTGTT	0.378													-	76891521	T	-	76891521	7	5	161	1	0	1	0	1	0	0	0	0	13950	1609	56	0	1291	0	SDAD1	4	76891521	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2885708	76891521	114262755	174	88226											
NAA11	84779	broad.mit.edu	37	chr4	80246788	80246788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaggccgaggcgccGgtgtgaacgcttcacggcca	16	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:80246788G>A	uc003hlt.3	-	1	384	c.244C>T	c.(244-246)CGG>TGG	p.R82W		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	82	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						CCGAGGCGCCGGTGTGAACGC	0.562													A	80246788	G	A	80246788	3	1	161	1	0	0	0	0	1	0	0	0	10117	1115	39	1	449	1	NAA11	4	80246788	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3355267	80246788	110907488	175	88227											
DNAJB14	79982	broad.mit.edu	37	chr4	100851702	100851702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattaggcttgctttgatcGccactacctgatggttttcg	9	10	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:100851702G>A	uc003hvl.2	-	2	361	c.210C>T	c.(208-210)GGC>GGT	p.G70G	DNAJB14_uc003hvk.2_5'UTR|DNAJB14_uc010ili.2_Intron|DNAJB14_uc003hvm.2_Silent_p.G70G	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	70					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TGCTTTGATCGCCACTACCTG	0.428													A	100851702	G	A	100851702	2	1	161	1	0	0	0	0	0	0	0	1	4619	1074	38	1		1	DNAJB14	4	100851702	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	20604914	100851702	90302574	176	88228											
PPA2	27068	broad.mit.edu	37	chr4	106367549	106367549	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgttacctgagggagGgtaccataattccatatata	8	6	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:106367549G>C	uc003hxl.2	-	5	452	c.432C>G	c.(430-432)ACC>ACG	p.T144T	PPA2_uc003hxm.2_Silent_p.T126T|PPA2_uc003hxn.2_Silent_p.T144T|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.T51T|PPA2_uc003hxr.2_Silent_p.T51T|PPA2_uc011cfa.1_Silent_p.T51T	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	144					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CCTGAGGGAGGGTACCATAAT	0.358													C	106367549	G	C	106367549	2	2	161	1	0	0	0	0	0	0	0	1	12287	1219	43	5		5	PPA2	4	106367549	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5515847	106367549	84786727	177	88229											
PPA2	27068	broad.mit.edu	37	chr4	106367570	106367570	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccataattccatatataAcccttgtaagggaagatatt	6	7	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:106367570A>G	uc003hxl.2	-	5	431	c.411T>C	c.(409-411)GGT>GGC	p.G137G	PPA2_uc003hxm.2_Silent_p.G119G|PPA2_uc003hxn.2_Silent_p.G137G|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.G44G|PPA2_uc003hxr.2_Silent_p.G44G|PPA2_uc011cfa.1_Silent_p.G44G	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	137					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCCATATATAACCCTTGTAAG	0.373													G	106367570	A	G	106367570	2	3	161	1	0	0	0	0	0	0	0	1	12287	30	2	3		3	PPA2	4	106367570	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	21	106367570	84786706	178	88230											
ARHGEF38	54848	broad.mit.edu	37	chr4	106510452	106510452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagctgagaccttaaccCcagaggaagagcatcatatg	10	10	1	3	rs145953652	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:106510452C>A	uc003hxu.2	+	2	390	c.244C>A	c.(244-246)CCA>ACA	p.P82T		NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN	hypothetical protein LOC54848	82					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|breast(1)	3						GACCTTAACCCCAGAGGAAGA	0.418													A	106510452	C	A	106510452	3	1	161	1	0	0	0	0	1	0	0	0	907	623	22	5	250	5	ARHGEF38	4	106510452	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	142882	106510452	84643824	179	88231											
DKK2	27123	broad.mit.edu	37	chr4	107845238	107845238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgagaacccttcttgCgttgtttggtacagacttcc	9	12	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:107845238C>T	uc003hyi.2	-	4	1358	c.653G>A	c.(652-654)CGC>CAC	p.R218H	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	218	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACCCTTCTTGCGTTGTTTGGT	0.502													T	107845238	C	T	107845238	3	4	161	1	0	0	0	0	1	0	0	0	4545	768	27	1	130	1	DKK2	4	107845238	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1334786	107845238	83309038	180	88232											
EGF	1950	broad.mit.edu	37	chr4	110865126	110865126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggatgtgcttgataagcGgctgttttggattcagtaca	12	5	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:110865126G>A	uc003hzy.3	+	4	1090	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	EGF_uc011cfu.1_Missense_Mutation_p.R213Q|EGF_uc011cfv.1_Missense_Mutation_p.R213Q	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	213	LDL-receptor class B 4.|Extracellular (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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTTGATAAGCGGCTGTTTTGG	0.433													A	110865126	G	A	110865126	3	1	161	1	0	0	0	0	1	0	0	0	4962	1116	39	1	652	1	EGF	4	110865126	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3019888	110865126	80289150	181	88233											
KIAA1109	84162	broad.mit.edu	37	chr4	123207740	123207740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccaaatcacagattgCgttttacttcaaaagtttct	6	9	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:123207740C>T	uc003ieh.2	+	51	9127	c.9082C>T	c.(9082-9084)CGT>TGT	p.R3028C	KIAA1109_uc003iel.1_Missense_Mutation_p.R963C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3028					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCACAGATTGCGTTTTACTTC	0.388													T	123207740	C	T	123207740	3	4	161	1	0	0	0	0	1	0	0	0	8208	768	27	1	9284	1	KIAA1109	4	123207740	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	12342614	123207740	67946536	182	88234											
FAT4	79633	broad.mit.edu	37	chr4	126242500	126242500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaggagaacccattgGcacaaacgtgatatcaatag	11	7	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:126242500G>A	uc003ifj.3	+	1	4934	c.4934G>A	c.(4933-4935)GGC>GAC	p.G1645D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1645	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAACCCATTGGCACAAACGTG	0.413													A	126242500	G	A	126242500	3	1	161	1	0	0	0	0	1	0	0	0	5692	1203	42	2	4936	2	FAT4	4	126242500	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3034760	126242500	64911776	183	88235											
HSPA4L	22824	broad.mit.edu	37	chr4	128716934	128716934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacagatagtcacgaaCgtaagaaatacaattcatgg	8	8	2	2	rs75776460	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:128716934C>T	uc003ifm.2	+	3	430	c.177C>T	c.(175-177)AAC>AAT	p.N59N	HSPA4L_uc010iny.1_Silent_p.N59N|HSPA4L_uc011cgr.1_Silent_p.N26N	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	59					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TAGTCACGAACGTAAGAAATA	0.373													T	128716934	C	T	128716934	2	4	161	1	0	0	0	0	0	0	0	1	7413	535	19	1		1	HSPA4L	4	128716934	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2474434	128716934	62437342	184	88236											
HSPA4L	22824	broad.mit.edu	37	chr4	128725223	128725223	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggttgaaccacctttaaaAgcagtaatggaacaagctag	10	7	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:128725223A>G	uc003ifm.2	+	8	1219	c.966A>G	c.(964-966)AAA>AAG	p.K322K	HSPA4L_uc010iny.1_Silent_p.K281K|HSPA4L_uc011cgr.1_Silent_p.K289K	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	322					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CACCTTTAAAAGCAGTAATGG	0.358													G	128725223	A	G	128725223	2	3	161	1	0	0	0	0	0	0	0	1	7413	69	3	3		3	HSPA4L	4	128725223	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	8289	128725223	62429053	185	88237											
NAA15	80155	broad.mit.edu	37	chr4	140270718	140270718	+	Frame_Shift_Del	DEL	A	A	-													ggcctattacaaaggcttggAaaaagcactcaagccaggta							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140270718delA	uc003ihu.1	+	7	1050	c.794delA	c.(793-795)GAAfs	p.E265fs		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	265					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						AAAGGCTTGGAAAAAGCACTC	0.333													-	140270718	A	-	140270718	7	5	161	1	0	1	0	1	0	0	0	0	10118	246	9	0	820	0	NAA15	4	140270718	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	11545495	140270718	50883558	186	88238											
RAB33B	83452	broad.mit.edu	37	chr4	140394191	140394191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctcataagcttaagAgccacaaaccattaatgctt	6	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140394191A>G	uc003ihv.2	+	2	990	c.601A>G	c.(601-603)AGC>GGC	p.S201G		NM_031296	NP_112586	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	201					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0	all_hematologic(180;0.162)					TAAGCTTAAGAGCCACAAACC	0.418													G	140394191	A	G	140394191	3	3	161	1	0	0	0	0	1	0	0	0	12923	304	11	3	607	3	RAB33B	4	140394191	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	123473	140394191	50760085	187	88239											
MGST2	4258	broad.mit.edu	37	chr4	140624683	140624683	+	Frame_Shift_Del	DEL	A	A	-													ggggatattcagaagctgctAaaaaacggtaaggagaaccc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140624682_140624682TA>T	uc003ihy.3	+	3	555	c.303_303TA>T	c.(301-303)gctfs	p.A101fs	MGST2_uc021xsf.1_Frame_Shift_Del_p.A101fs|MGST2_uc010ioi.1_Frame_Shift_Del_p.A33fs|MGST2_uc021xse.1_Frame_Shift_Del_p.*78fs	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	101			A -> V (in dbSNP:rs8192111).		glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	CAGAAGCTGCTAAAAAACGGT	0.408													-	140624683	A	-	140624683	7	5	161	1	0	1	0	1	0	0	0	0	9561	363	13	0	318	0	MGST2	4	140624683	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	230492	140624683	50529593	188	88240											
MAML3	55534	broad.mit.edu	37	chr4	140810638	140810638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggagctgtggaggtggcGgctgctgctgctgctgctgc	18	11	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140810638G>T	uc003ihz.1	-	3	2692	c.1940C>A	c.(1939-1941)CCG>CAG	p.P647Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	647	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					TGGAGGTGGCGgctgctgctg	0.418													T	140810638	G	T	140810638	3	4	161	1	0	0	0	0	1	0	0	0	9207	1116	39	5	1480	5	MAML3	4	140810638	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	185955	140810638	50343638	189	88241											
LRBA	987	broad.mit.edu	37	chr4	151199022	151199022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctggtcgtaagacagCgccatggcccggattccagc	11	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:151199022C>T	uc010ipj.2	-	57	8958	c.8484G>A	c.(8482-8484)GCG>GCA	p.A2828A	LRBA_uc010ipi.2_Silent_p.A350A|LRBA_uc003ils.3_Silent_p.A723A|LRBA_uc003ilt.3_Silent_p.A1476A|LRBA_uc003ilu.3_Silent_p.A2816A|LRBA_uc003ilr.3_Silent_p.A248A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2828	WD 6.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CGTAAGACAGCGCCATGGCCC	0.468													T	151199022	C	T	151199022	2	4	161	1	0	0	0	0	0	0	0	1	8931	755	27	1		1	LRBA	4	151199022	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	10388384	151199022	39955254	190	88242											
LRBA	987	broad.mit.edu	37	chr4	151770620	151770620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcagtatacccccacaaGccatgaccatattgtccatc	6	14	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:151770620G>T	uc010ipj.2	-	25	4586	c.4112C>A	c.(4111-4113)GCT>GAT	p.A1371D	LRBA_uc003ilt.3_Missense_Mutation_p.A30D|LRBA_uc003ilu.3_Missense_Mutation_p.A1371D	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1371						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACCCCCACAAGCCATGACCAT	0.393													T	151770620	G	T	151770620	3	4	161	1	0	0	0	0	1	0	0	0	8931	971	34	5	4615	5	LRBA	4	151770620	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	571598	151770620	39383656	191	88243											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia 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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	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								A	153249385	G	A	153249385	3	1	161	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1478765	153249385	37904891	192	88244											
MAP9	79884	broad.mit.edu	37	chr4	156273869	156273869	+	Frame_Shift_Del	DEL	T	T	-													tttgcttgaaaaaagcttccTttttttcattcctatagagc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:156273869delT	uc003ios.2	-	13	1964	c.1700delA	c.(1699-1701)AAGfs	p.K567fs	MAP9_uc011cin.1_Frame_Shift_Del_p.K542fs|MAP9_uc010iqa.1_RNA	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	567	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAAGCTTCCTTTTTTTCATT	0.189													-	156273869	T	-	156273869	7	5	161	1	0	1	0	1	0	0	0	0	9270	1609	56	0	251	0	MAP9	4	156273869	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	3024484	156273869	34880407	193	88245											
FAM198B	51313	broad.mit.edu	37	chr4	159091773	159091773	+	Frame_Shift_Del	DEL	C	C	-													ggagcacagcgccaggtgcgCccccctccagcaccagcaaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:159091773delC	uc003ipp.3	-	2	1207	c.755delG	c.(754-756)GGCfs	p.G252fs	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Frame_Shift_Del_p.G252fs|FAM198B_uc003ipr.3_Frame_Shift_Del_p.G252fs|FAM198B_uc003ips.2_Frame_Shift_Del_p.G252fs|uc003ipt.1_5'Flank	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	252	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GCCAGGTGCGCCCCCCTCCAG	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	159091773	C	-	159091773	7	5	161	1	0	1	0	1	0	0	0	0	5529	739	26	0	925	0	FAM198B	4	159091773	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2817904	159091773	32062503	194	88246											
TLL1	7092	broad.mit.edu	37	chr4	166935638	166935638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgatgataatggcatacGtcctgcaattggtcagcgaa	11	9	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:166935638G>A	uc003irh.1	+	8	1615	c.968G>A	c.(967-969)CGT>CAT	p.R323H	TLL1_uc011cjn.1_Missense_Mutation_p.R323H|TLL1_uc011cjo.1_Missense_Mutation_p.R147H	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	323	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATGGCATACGTCCTGCAATT	0.458													A	166935638	G	A	166935638	3	1	161	1	0	0	0	0	1	0	0	0	15942	1145	40	1	998	1	TLL1	4	166935638	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7843865	166935638	24218638	195	88247											
HPGD	3248	broad.mit.edu	37	chr4	175416735	175416735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaactatgccatgcttTgaagcacaataaaccggctg	7	11	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:175416735T>C	uc003itu.2	-	5	652	c.462A>G	c.(460-462)TCA>TCG	p.S154S	HPGD_uc003itt.2_Silent_p.S21S|HPGD_uc003itv.2_Silent_p.S154S|HPGD_uc011ckf.1_Silent_p.S33S|HPGD_uc010irp.2_Silent_p.S33S|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Silent_p.S86S|HPGD_uc011ckh.1_Silent_p.S33S|HPGD_uc003itw.2_Silent_p.S154S	NM_000860	NP_000851	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	154	NAD.				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity				0		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TGCCATGCTTTGAAGCACAAT	0.388													C	175416735	T	C	175416735	2	2	161	1	0	0	0	0	0	0	0	1	7334	1799	63	3		3	HPGD	4	175416735	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	8481097	175416735	15737541	196	88248											
ODZ3	55714	broad.mit.edu	37	chr4	183694720	183694720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggctatcacagtggacaTtgagtcatctagccgagaag	11	9	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:183694720T>C	uc003ivd.1	+	22	5025	c.4988T>C	c.(4987-4989)ATT>ACT	p.I1663T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1663	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACAGTGGACATTGAGTCATCT	0.443													C	183694720	T	C	183694720	3	2	161	1	0	0	0	0	1	0	0	0	10836	1493	52	3	5074	3	ODZ3	4	183694720	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	8277985	183694720	7459556	197	88249											
C4orf41	60684	broad.mit.edu	37	chr4	184614224	184614224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaagccttacaggcagctCggtctttcaaaaggcgacct	10	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:184614224C>T	uc003ivx.2	+	20	2337	c.2161C>T	c.(2161-2163)CGG>TGG	p.R721W	C4orf41_uc003ivw.2_Missense_Mutation_p.R721W|C4orf41_uc010isc.2_Missense_Mutation_p.R65W|C4orf41_uc003ivy.2_Missense_Mutation_p.R327W	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	721											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		ACAGGCAGCTCGGTCTTTCAA	0.483													T	184614224	C	T	184614224	3	4	161	1	0	0	0	0	1	0	0	0	2270	875	31	1	2235	1	C4orf41	4	184614224	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	919504	184614224	6540052	198	88250											
TLR3	7098	broad.mit.edu	37	chr4	187000149	187000149	+	Frame_Shift_Del	DEL	A	A	-													atctttgccaattcatctttAaaaaaattagagttgtcatc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:187000149delA	uc003iyq.2	+	3	698	c.597delA	c.(595-597)TTAfs	p.L199fs	TLR3_uc011ckz.1_5'Flank	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	199	LRR 7.|Lumenal (Potential).				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			ovary(2)|prostate(1)|lung(1)|breast(1)	5		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)		ATTCATCTTTAAAAAAATTAG	0.333													-	187000149	A	-	187000149	7	5	161	1	0	1	0	1	0	0	0	0	15949	359	13	0	603	0	TLR3	4	187000149	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2385925	187000149	4154127	199	88251											
SLC6A3	6531	broad.mit.edu	37	chr5	1432617	1432617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggtcccaaaagtgtcGttgaggcccgagctgtctcc	14	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:1432617G>A	uc003jck.2	-	4	736	c.615C>T	c.(613-615)AAC>AAT	p.N205N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	205	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			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)	CAAAAGTGTCGTTGAGGCCCG	0.617													A	1432617	G	A	1432617	2	1	161	1	0	0	0	0	0	0	0	1	14685	1136	40	1		1	SLC6A3	5	1432617	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		1432617	179482643	200	88252											
KIAA0947	23379	broad.mit.edu	37	chr5	5441312	5441312	+	Frame_Shift_Del	DEL	A	A	-													caggaagaactgggatctttAaaagcagagctagaagagaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:5441312delA	uc003jdm.3	+	5	507	c.285delA	c.(283-285)TTAfs	p.L95fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	95	Potential.									ovary(1)|central_nervous_system(1)	2						TGGGATCTTTAAAAGCAGAGC	0.353													-	5441312	A	-	5441312	7	5	161	1	0	1	0	1	0	0	0	0	8202	359	13	0	303	0	KIAA0947	5	5441312	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	4008695	5441312	175473948	201	88253											
SEMA5A	9037	broad.mit.edu	37	chr5	9063142	9063142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacggctgcactgtgaccacGacgtccaggctgaccaagcc	11	16	0	2	rs2290734		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:9063142G>A	uc003jek.2	-	18	3087	c.2375C>T	c.(2374-2376)TCG>TTG	p.S792L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	792	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CTGTGACCACGACGTCCAGGC	0.597													A	9063142	G	A	9063142	3	1	161	1	0	0	0	0	1	0	0	0	14037	1059	37	1	873	1	SEMA5A	5	9063142	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3621830	9063142	171852118	202	88254											
SEMA5A	9037	broad.mit.edu	37	chr5	9154749	9154749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagctcaatctcttccagCaaacagctgcttgaggtctg	9	11	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:9154749C>A	uc003jek.2	-	12	2044	c.1332G>T	c.(1330-1332)TTG>TTT	p.L444F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	444	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TCTCTTCCAGCAAACAGCTGC	0.547													A	9154749	C	A	9154749	3	1	161	1	0	0	0	0	1	0	0	0	14037	709	25	5	1940	5	SEMA5A	5	9154749	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	91607	9154749	171760511	203	88255											
MARCH6	10299	broad.mit.edu	37	chr5	10411586	10411586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagcccaccaagccatActccagcagggagggcctgt	11	15	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:10411586A>G	uc003jet.1	+	19	2016	c.1833A>G	c.(1831-1833)ATA>ATG	p.I611M	MARCH6_uc011cmu.1_Missense_Mutation_p.I563M|MARCH6_uc003jeu.1_Missense_Mutation_p.I309M|MARCH6_uc011cmv.1_Missense_Mutation_p.I506M	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	611	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						ACCAAGCCATACTCCAGCAGG	0.458													G	10411586	A	G	10411586	3	3	161	1	0	0	0	0	1	0	0	0	9305	381	14	3	1907	3	MARCH6	5	10411586	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1256837	10411586	170503674	204	88256											
ROPN1L	83853	broad.mit.edu	37	chr5	10450112	10450112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatcttgagcagaagtggAagaacttgtgcctgccgaag	13	8	1	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:10450112A>G	uc003jex.3	+	3	575	c.304A>G	c.(304-306)AAG>GAG	p.K102E		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	102					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						GCAGAAGTGGAAGAACTTGTG	0.398													G	10450112	A	G	10450112	3	3	161	1	0	0	0	0	1	0	0	0	13525	247	9	3	314	3	ROPN1L	5	10450112	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	38526	10450112	170465148	205	88257											
DNAH5	1767	broad.mit.edu	37	chr5	13922340	13922340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgccccagccatggctcGtggctctgagagcaggaatg	14	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:13922340G>A	uc003jfd.2	-	5	578	c.536C>T	c.(535-537)ACG>ATG	p.T179M	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	179	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCCATGGCTCGTGGCTCTGAG	0.562									Kartagener_syndrome				A	13922340	G	A	13922340	3	1	161	1	0	0	0	0	1	0	0	0	4604	1145	40	1	13638	1	DNAH5	5	13922340	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3472228	13922340	166992920	206	88258											
CDH10	1008	broad.mit.edu	37	chr5	24488219	24488219	+	Frame_Shift_Del	DEL	T	T	-													tttgacaagatcagaggctcTttttttcgctgtcttttcag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:24488218_24488218CT>C	uc003jgr.2	-	11	2427	c.1921_1921AG>G	c.(1921-1923)gagfs	p.E641fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	641					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)		ATCAGAGGCTCTTTTTTTCGC	0.408										HNSCC(23;0.051)			-	24488219	T	-	24488219	7	5	161	1	0	1	0	1	0	0	0	0	3096	1606	56	0	450	0	CDH10	5	24488219	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	10565879	24488219	156427041	207	88259											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596124	33596124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtagctttcaccatccCgcggcccttctttatgcaat	7	13	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:33596124C>T	uc003jia.1	-	17	2732	c.2569G>A	c.(2569-2571)GGG>AGG	p.G857R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G772R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	857	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTCACCATCCCGCGGCCCTTC	0.517										HNSCC(64;0.19)			T	33596124	C	T	33596124	3	4	161	1	0	0	0	0	1	0	0	0	257	652	23	1	2247	1	ADAMTS12	5	33596124	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	9107905	33596124	147319136	208	88260											
RANBP3L	202151	broad.mit.edu	37	chr5	36251559	36251559	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaagtgcaacaagacgatGatgtattgctgcatacaaat	9	6	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:36251559G>T	uc003jkh.2	-	13	1703	c.1210C>A	c.(1210-1212)CAT>AAT	p.H404N	RANBP3L_uc011cow.1_Missense_Mutation_p.H429N	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	404	RanBD1.				intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAAGACGATGATGTATTGCT	0.383													T	36251559	G	T	36251559	3	4	161	1	0	0	0	0	1	0	0	0	13030	1290	45	5	195	5	RANBP3L	5	36251559	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2655435	36251559	144663701	209	88261											
DDX4	54514	broad.mit.edu	37	chr5	55110957	55110957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttttttgatcttgaatcGgataaccatttagcacagcc	6	10	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:55110957G>A	uc003jqg.3	+	20	2018	c.1944G>A	c.(1942-1944)TCG>TCA	p.S648S	DDX4_uc010ivz.2_Silent_p.S628S|DDX4_uc003jqh.3_Silent_p.S614S|DDX4_uc003jqj.2_Silent_p.S499S	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	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			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCTTGAATCGGATAACCATT	0.358													A	55110957	G	A	55110957	2	1	161	1	0	0	0	0	0	0	0	1	4360	1103	39	1		1	DDX4	5	55110957	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	18859398	55110957	125804303	210	88262											
TRIM23	373	broad.mit.edu	37	chr5	64910016	64910016	+	Frame_Shift_Del	DEL	T	T	-													aaagctccaataaagcaaaaTtttttttcaatccccagaca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:64910015_64910015AT>A	uc003jty.3	-	2	362	c.276_276AT>T	c.(274-276)aatfs	p.N92fs	TRIM23_uc003jtw.3_Frame_Shift_Del_p.N92fs|TRIM23_uc003jtx.3_Frame_Shift_Del_p.N92fs	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	92					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N92K(2)|p.N92I(1)|p.N92H(1)		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)		ATAAAGCAAAATTTTTTTTCA	0.358													-	64910016	T	-	64910016	7	5	161	1	0	1	0	1	0	0	0	0	16494	1493	52	0	1552	0	TRIM23	5	64910016	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	9799059	64910016	116005244	211	88263											
ARSB	411	broad.mit.edu	37	chr5	78280984	78280984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcggcgccaacaacaGcagcagcagcagcgggagga	16	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:78280984G>A	uc003kfq.2	-	1	1374	c.88C>T	c.(88-90)CTG>TTG	p.L30L	ARSB_uc003kfr.3_Silent_p.L30L	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	30					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		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)		gccAACAACAGCAGCAGCAGC	0.557													A	78280984	G	A	78280984	2	1	161	1	0	0	0	0	0	0	0	1	988	962	34	2		2	ARSB	5	78280984	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	13370968	78280984	102634276	212	88264											
THBS4	7060	broad.mit.edu	37	chr5	79366961	79366961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagaaagacaccgatgggGatggaagaggagatgcctgt	15	7	0	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:79366961G>A	uc003kgh.2	+	14	2001	c.1678G>A	c.(1678-1680)GAT>AAT	p.D560N	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	560	TSP type-3 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACCGATGGGGATGGAAGAGG	0.413													A	79366961	G	A	79366961	3	1	161	1	0	0	0	0	1	0	0	0	15853	1174	41	4	1728	4	THBS4	5	79366961	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1085977	79366961	101548299	213	88265											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855037	79855037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtgtaatatcctggaGctcctcttgcaatgaagcca	9	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:79855037G>A	uc010jam.2	-	4	1152	c.802C>T	c.(802-804)CTC>TTC	p.L268F	ANKRD34B_uc003kgw.2_Missense_Mutation_p.L268F|ANKRD34B_uc010jan.2_Missense_Mutation_p.L268F	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	268						cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ATATCCTGGAGCTCCTCTTGC	0.502													A	79855037	G	A	79855037	3	1	161	1	0	0	0	0	1	0	0	0	663	971	34	2	746	2	ANKRD34B	5	79855037	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	488076	79855037	101060223	214	88266											
MSH3	4437	broad.mit.edu	37	chr5	80064741	80064741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattcaaggtgttattgaCgagatccgaatgcatttgca	10	6	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:80064741C>T	uc003kgz.2	+	15	2425	c.2172C>T	c.(2170-2172)GAC>GAT	p.D724D		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	724					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			lung(2)|ovary(1)|breast(1)	4		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)		GTGTTATTGACGAGATCCGAA	0.328								MMR					T	80064741	C	T	80064741	2	4	161	1	0	0	0	0	0	0	0	1	9871	535	19	1		1	MSH3	5	80064741	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	209704	80064741	100850519	215	88267											
RASGRF2	5924	broad.mit.edu	37	chr5	80513294	80513294	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaaaatgagaatggTaggtataatttcataattag	7	4	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:80513294T>C	uc003kha.1	+	25	3552	c.3552_splice	c.e25+2	p.M1184_splice	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Splice_Site	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine						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			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		ATGAGAATGGTAGGTATAATT	0.338													C	80513294	T	C	80513294	5	2	161	1	0	0	0	0	0	0	1	0	13073	1652	57	3	3652	3	RASGRF2	5	80513294	Splice_Site	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	448553	80513294	100401966	216	88268											
GPR98	84059	broad.mit.edu	37	chr5	89923187	89923187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttcctgaggaagaccacAtactcataattccagtagtt	8	9	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:89923187A>G	uc003kju.2	+	7	928	c.832A>G	c.(832-834)ATA>GTA	p.I278V	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	278	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		GGAAGACCACATACTCATAAT	0.378													G	89923187	A	G	89923187	3	3	161	1	0	0	0	0	1	0	0	0	6721	217	8	3	858	3	GPR98	5	89923187	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	9409893	89923187	90992073	217	88269											
FAM174A	345757	broad.mit.edu	37	chr5	99871435	99871435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgcccagcagccgggCcgtggtctggctgaagctgc	14	16	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:99871435C>T	uc003knj.1	+	1	321	c.201C>T	c.(199-201)GGC>GGT	p.G67G	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	67	Extracellular (Potential).					integral to membrane					0						AGCAGCCGGGCCGTGGTCTGG	0.721													T	99871435	C	T	99871435	2	4	161	1	0	0	0	0	0	0	0	1	5495	726	26	2		2	FAM174A	5	99871435	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	9948248	99871435	81043825	218	88270											
FER	2241	broad.mit.edu	37	chr5	108168618	108168618	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagttacataggtgttcatCagcagatagaggcagagatg	12	5	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:108168618C>T	uc003kop.1	+	4	739	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	FER_uc011cve.1_Nonsense_Mutation_p.Q59*|FER_uc011cvf.1_RNA|FER_uc003koq.2_Nonsense_Mutation_p.Q119*|FER_uc011cvg.1_Intron	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		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)		AGGTGTTCATCAGCAGATAGA	0.388													T	108168618	C	T	108168618	4	4	161	1	0	0	0	0	0	1	0	0	5813	827	29	4	361	4	FER	5	108168618	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	8297183	108168618	72746642	219	88271											
APC	324	broad.mit.edu	37	chr5	112116587	112116587	+	Frame_Shift_Del	DEL	A	A	-													aggtacctgccaggatatggAaaaacgagcacaggtaagtt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:112116587delA	uc010jby.2	+	6	1012	c.632delA	c.(631-633)GAAfs	p.E211fs	APC_uc011cvt.1_Frame_Shift_Del_p.E221fs|APC_uc003kpz.3_Frame_Shift_Del_p.E211fs|APC_uc003kpy.3_Frame_Shift_Del_p.E211fs|APC_uc010jbz.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	211	Leu-rich.|Potential.				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			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		CAGGATATGGAAAAACGAGCA	0.353		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			-	112116587	A	-	112116587	7	5	161	1	0	1	0	1	0	0	0	0	763	246	9	0	650	0	APC	5	112116587	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3947969	112116587	68798673	220	88272											
APC	324	broad.mit.edu	37	chr5	112175676	112175677	+	Frame_Shift_Del	DEL	AG	AG	-													taaagcacctactgctgaaaAgagagagagtggacctaagc					rs121913334		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:112175675_112175676AAG>A	uc003kpz.4	+	16	4577_4578	c.4384_4385AAG>A	c.(4384-4386)aagfs	p.K1462fs	APC_uc011cvt.2_Frame_Shift_Del_p.K1444fs|APC_uc003kpy.4_Frame_Shift_Del_p.K1462fs|APC_uc010jbz.3_Frame_Shift_Del_p.K1179fs|APC_uc010jca.3_Frame_Shift_Del_p.K762fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1462	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.S1465fs*3(16)|p.K1462fs*6(5)|p.E1461*(3)|p.K1462fs*5(2)|p.K1462fs*10(2)|p.?(1)|p.K1454fs*3(1)|p.K1192fs*3(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)		TACTGCTGAAAAGAGAGAGAGT	0.45		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)			-	112175677	AG	-	112175676	7	5	161	1	0	1	0	1	0	0	0	0	763	72	3	0	4443	0	APC	5	112175676	Frame_Shift_Del	DEL	AG	TCGA-CD-A4MJ-01A-11D-A25D-08	59089	112175676	68739584	221	88273											
SEMA6A	57556	broad.mit.edu	37	chr5	115813609	115813609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacaatatgggtctctggAggcaatacaggttctgcagg	12	9	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:115813609A>G	uc010jck.2	-	15	2291	c.1582T>C	c.(1582-1584)TCC>CCC	p.S528P	SEMA6A_uc003krx.3_Missense_Mutation_p.S528P|SEMA6A_uc003krw.3_Missense_Mutation_p.S60P|SEMA6A_uc010jcj.2_Missense_Mutation_p.S72P	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	528	Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		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)		GGGTCTCTGGAGGCAATACAG	0.493													G	115813609	A	G	115813609	3	3	161	1	0	0	0	0	1	0	0	0	14039	304	11	3	1530	3	SEMA6A	5	115813609	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3637933	115813609	65101651	222	88274											
SLC27A6	28965	broad.mit.edu	37	chr5	128359397	128359397	+	Frame_Shift_Del	DEL	A	A	-													agggttggtgtattcatgtgAaaaaaggtaagacttctatt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:128359396_128359396GA>G	uc003kuy.3	+	6	1644	c.1248_1248GA>G	c.(1246-1248)gtgfs	p.V416fs	SLC27A6_uc003kuz.3_Frame_Shift_Del_p.V416fs	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	416					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)		GTATTCATGTGAAAAAAGGTA	0.383													-	128359397	A	-	128359397	7	5	161	1	0	1	0	1	0	0	0	0	14530	247	9	0	1271	0	SLC27A6	5	128359397	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	12545788	128359397	52555863	223	88275											
SMAD5	4090	broad.mit.edu	37	chr5	135496657	135496657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgccacaaaatgccacGtttccagattctttccacca	4	15	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:135496657G>A	uc003lbj.1	+	5	960	c.516G>A	c.(514-516)ACG>ACA	p.T172T	SMAD5_uc003lbk.1_Silent_p.T172T|SMAD5_uc003lbl.1_Silent_p.T172T	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	172					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				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAATGCCACGTTTCCAGATT	0.473													A	135496657	G	A	135496657	2	1	161	1	0	0	0	0	0	0	0	1	14761	1132	40	1		1	SMAD5	5	135496657	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7137260	135496657	45418603	224	88276											
KDM3B	51780	broad.mit.edu	37	chr5	137735690	137735690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccggctcaggaaaagccGgccacgcagtggtaagtaaa	12	10	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:137735690G>A	uc003lcy.1	+	11	3388	c.3188G>A	c.(3187-3189)CGG>CAG	p.R1063Q	KDM3B_uc010jew.1_Missense_Mutation_p.R719Q|KDM3B_uc011cys.1_Missense_Mutation_p.R95Q	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1063					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			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						AGGAAAAGCCGGCCACGCAGT	0.478													A	137735690	G	A	137735690	3	1	161	1	0	0	0	0	1	0	0	0	8127	1116	39	1	3230	1	KDM3B	5	137735690	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2239033	137735690	43179570	225	88277											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139866640	139866640	+	Frame_Shift_Del	DEL	A	A	-													tcctgcccttttaggagtgcAaaaaggttagttattgaatt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:139866640delA	uc003lfs.1	+	14	2364	c.2240delA	c.(2239-2241)CAAfs	p.Q747fs	ANKHD1_uc003lfq.1_Frame_Shift_Del_p.Q766fs|ANKHD1_uc003lfr.2_Frame_Shift_Del_p.Q747fs|ANKHD1_uc003lft.1_Frame_Shift_Del_p.Q211fs|ANKHD1_uc003lfu.1_Frame_Shift_Del_p.Q227fs|ANKHD1_uc003lfv.1_Frame_Shift_Del_p.Q77fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	747						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGGAGTGCAAAAAGGTTAG	0.398													-	139866640	A	-	139866640	7	5	161	1	0	1	0	1	0	0	0	0	629	130	5	0	2294	0	ANKHD1-EIF4EBP3	5	139866640	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2130950	139866640	41048620	226	88278											
PCDHB1	29930	broad.mit.edu	37	chr5	140431403	140431403	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggagccgctgcagtcCttccgggccgaggtcagggt	17	12	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140431403C>A	uc003lik.1	+	1	425	c.348C>A	c.(346-348)TCC>TCA	p.S116S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	116	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCAGTCCTTCCGGGCCG	0.502													A	140431403	C	A	140431403	2	1	161	1	0	0	0	0	0	0	0	1	11534	668	24	5		5	PCDHB1	5	140431403	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	564763	140431403	40483857	227	88279											
PCDHB5	26167	broad.mit.edu	37	chr5	140517344	140517344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcctaaccttttgccccaGggcgctggtgaagaaatagg	11	10	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140517344G>T	uc003liq.2	+	1	2545	c.2328G>T	c.(2326-2328)CAG>CAT	p.Q776H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	776	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGCCCCAGGGCGCTGGTG	0.502													T	140517344	G	T	140517344	3	4	161	1	0	0	0	0	1	0	0	0	11545	991	35	5	2330	5	PCDHB5	5	140517344	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	85941	140517344	40397916	228	88280											
PCDHB7	56129	broad.mit.edu	37	chr5	140553130	140553130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctagacgtaaatgacaaCgcccctgattttgtgcggtc	10	10	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140553130C>T	uc003lit.2	+	1	888	c.714C>T	c.(712-714)AAC>AAT	p.N238N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	238	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542													T	140553130	C	T	140553130	2	4	161	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140553130	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	35786	140553130	40362130	229	88281											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718560	140718560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggctctgcaaaagttgCcacactgcagaaagctggtc	12	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140718560C>T	uc003ljk.1	+	1	207	c.22C>T	c.(22-24)CCA>TCA	p.P8S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.P8S	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	8					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAAGTTGCCACACTGCAG	0.552											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140718560	C	T	140718560	3	4	161	1	0	0	0	0	1	0	0	0	11554	739	26	2	24	2	PCDHGA2	5	140718560	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	165430	140718560	40196700	230	88282											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740955	140740955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaggagatcccagaatAcaatctcaccatcacagcca	8	14	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140740955A>G	uc003ljs.1	+	1	1253	c.1253A>G	c.(1252-1254)TAC>TGC	p.Y418C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.Y418C|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	418	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCAGAATACAATCTCACC	0.507													G	140740955	A	G	140740955	3	3	161	1	0	0	0	0	1	0	0	0	11563	391	14	3	1255	3	PCDHGB2	5	140740955	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	22395	140740955	40174305	231	88283											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782828	140782828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagagcccgcggtgtctGgtgaactttaaagtcctggt	13	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140782828G>A	uc003lkh.1	+	1	309	c.309G>A	c.(307-309)CTG>CTA	p.L103L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.L103L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	103	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTGAACTTTA	0.532													A	140782828	G	A	140782828	2	1	161	1	0	0	0	0	0	0	0	1	11561	1335	47	4		4	PCDHGA9	5	140782828	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	41873	140782828	40132432	232	88284											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869039	140869039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggcgctatttttccctgAgcttgatgagtggtgccctg	13	9	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140869039A>C	uc003lla.1	+	1	232	c.232A>C	c.(232-234)AGC>CGC	p.S78R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S78R	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	78	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTCCCTGAGCTTGATGAG	0.547													C	140869039	A	C	140869039	3	2	161	1	0	0	0	0	1	0	0	0	11571	304	11	5	234	5	PCDHGC5	5	140869039	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	86211	140869039	40046221	233	88285											
FBXO38	81545	broad.mit.edu	37	chr5	147793698	147793698	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaattgattgctctttttaGgcagaatggctaatgcggat	10	5	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:147793698G>T	uc003lpf.1	+	10	1214	c.1094_splice	c.e10-1	p.S365_splice	FBXO38_uc003lpg.1_Splice_Site_p.S365_splice|FBXO38_uc003lph.2_Splice_Site_p.S365_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTTTTTAGGCAGAATGGC	0.358													T	147793698	G	T	147793698	5	4	161	1	0	0	0	0	0	0	1	0	5746	1014	35	5	1127	5	FBXO38	5	147793698	Splice_Site	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6924659	147793698	33121562	234	88286											
HTR4	3360	broad.mit.edu	37	chr5	147830828	147830828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtcccctgtgcagaaCggtgtacctagaaaggaagg	13	8	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:147830828C>T	uc003lpj.1	-	7	1248	c.1084G>A	c.(1084-1086)GTT>ATT	p.V362I	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform a	362	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTGTGCAGAACGGTGTACCTA	0.483													T	147830828	C	T	147830828	3	4	161	1	0	0	0	0	1	0	0	0	7449	536	19	1	83	1	HTR4	5	147830828	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	37130	147830828	33084432	235	88287											
CDX1	1044	broad.mit.edu	37	chr5	149546485	149546485	+	Missense_Mutation	SNP	G	G	A													aggattcgcccgtgtaccccGgcccagccaggccagccagc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:149546485G>A	uc003lrq.2	+	1	142	c.46G>A	c.(46-48)GGC>AGC	p.G16S		NM_001804	NP_001795	P47902	CDX1_HUMAN	caudal type homeobox 1	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGTACCCCGGCCCAGCCAG	0.597													A	149546485	G	A	149546485	3	1	161	1	0	0	0	0	1	0	0	0	3182	1116	39	1	48	1	CDX1	5	149546485	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1715657	149546485	31368775	236	88288	431	2									
CDX1	1044	broad.mit.edu	37	chr5	149546487	149546487	+	Silent	SNP	C	C	G													gattcgcccgtgtaccccggCccagccaggccagccagcct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:149546487C>G	uc003lrq.2	+	1	144	c.48C>G	c.(46-48)GGC>GGG	p.G16G		NM_001804	NP_001795	P47902	CDX1_HUMAN	caudal type homeobox 1	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTACCCCGGCCCAGCCAGGC	0.592													G	149546487	C	G	149546487	2	3	161	1	0	0	0	0	0	0	0	1	3182	726	26	5		5	CDX1	5	149546487	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2	149546487	31368773	237	88289	431	2									
CCDC69	26112	broad.mit.edu	37	chr5	150566955	150566955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccctctcacctgctgggTagaactggcctcccggaaag	11	15	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:150566955T>C	uc003ltq.2	-	5	508	c.385A>G	c.(385-387)ACC>GCC	p.T129A	CCDC69_uc010jhu.2_5'UTR|CCDC69_uc011dcq.1_RNA	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	129	Potential.									ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCTGGGTAGAACTGGCC	0.537													C	150566955	T	C	150566955	3	2	161	1	0	0	0	0	1	0	0	0	2841	1638	57	3	525	3	CCDC69	5	150566955	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1020468	150566955	30348305	238	88290											
CYFIP2	26999	broad.mit.edu	37	chr5	156816383	156816383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccaccggctgtggagcGccatgcagttcgtgtactgc	13	12	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:156816383G>A	uc003lwq.2	+	31	3532	c.3394G>A	c.(3394-3396)GCC>ACC	p.A1132T	CYFIP2_uc011ddn.1_Missense_Mutation_p.A1106T|CYFIP2_uc011ddo.1_Missense_Mutation_p.A936T|CYFIP2_uc003lwr.2_Missense_Mutation_p.A1132T|CYFIP2_uc003lws.2_Missense_Mutation_p.A1132T|CYFIP2_uc003lwt.2_Missense_Mutation_p.A1035T|CYFIP2_uc011ddp.1_Missense_Mutation_p.A866T|CYFIP2_uc003lwv.2_Missense_Mutation_p.A87T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1157					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			GCTGTGGAGCGCCATGCAGTT	0.617													A	156816383	G	A	156816383	3	1	161	1	0	0	0	0	1	0	0	0	4138	1087	38	1	3504	1	CYFIP2	5	156816383	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6249428	156816383	24098877	239	88291											
THG1L	54974	broad.mit.edu	37	chr5	157166440	157166440	+	Frame_Shift_Del	DEL	G	G	-													ccttgcactgcgatatcatcGgggatgctttctggaaggaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:157166439_157166439CG>C	uc003lxd.3	+	5	972	c.846_846CG>C	c.(844-846)atcfs	p.I282fs	THG1L_uc011ddu.2_Frame_Shift_Del_p.I150fs|AK000953_uc021ygr.1_5'Flank	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	282					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGATATCATCGGGGATGCTT	0.488													-	157166440	G	-	157166440	7	5	161	1	0	1	0	1	0	0	0	0	15858	1116	39	0	869	0	THG1L	5	157166440	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	350057	157166440	23748820	240	88292											
DOCK2	1794	broad.mit.edu	37	chr5	169111316	169111316	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggaagatgctgagctcttCatgtctctctacgaccccaa	10	12	4	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:169111316C>T	uc003maf.2	+	8	803	c.723C>T	c.(721-723)TTC>TTT	p.F241F	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	241					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			ovary(5)|pancreas(2)	7	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)			CTGAGCTCTTCATGTCTCTCT	0.483													T	169111316	C	T	169111316	2	4	161	1	0	0	0	0	0	0	0	1	4687	825	29	4		4	DOCK2	5	169111316	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	11944876	169111316	11803944	241	88293											
TLX3	30012	broad.mit.edu	37	chr5	170736463	170736463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcccggaccaggacagcGcacccgccccgcggggcccc	13	21	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:170736463G>A	uc003mbf.2	+	1	176	c.94G>A	c.(94-96)GCA>ACA	p.A32T	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGACAGCGCACCCGCCCC	0.756			T	BCL11B	T-ALL								A	170736463	G	A	170736463	3	1	161	1	0	0	0	0	1	0	0	0	15959	1087	38	1	96	1	TLX3	5	170736463	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1625147	170736463	10178797	242	88294											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766016	171766016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctcctgggaggaagcttCggctgaaggccacgtcttgg	14	12	2	1	rs144659619	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:171766016C>T	uc003mbr.2	-	13	2264	c.2093G>A	c.(2092-2094)CGA>CAA	p.R698Q		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	698					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			ovary(3)|skin(1)	4	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)			GAGGAAGCTTCGGCTGAAGGC	0.632													T	171766016	C	T	171766016	3	4	161	1	0	0	0	0	1	0	0	0	14257	884	31	1	646	1	SH3PXD2B	5	171766016	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1029553	171766016	9149244	243	88295											
HRH2	3274	broad.mit.edu	37	chr5	175111278	175111278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccaggtgtggagtgggAcagaagtcacggccccccag	15	12	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:175111278A>G	uc003mdd.2	+	1	2815	c.1042A>G	c.(1042-1044)ACA>GCA	p.T348A	HRH2_uc003mdc.3_Missense_Mutation_p.T348A	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	348	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	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)	GTGGAGTGGGACAGAAGTCAC	0.582													G	175111278	A	G	175111278	3	3	161	1	0	0	0	0	1	0	0	0	7356	275	10	3	1044	3	HRH2	5	175111278	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3345262	175111278	5803982	244	88296											
SNCB	6620	broad.mit.edu	37	chr5	176053506	176053507	+	Frame_Shift_Ins	INS	-	-	T													tgtgaggcctgttccttggtINStttttcagccactggagcag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176053505_176053506G>GT	uc010jke.1	-	1	772_773	c.378_379C>AC	c.(376-381)aaaccafs	p.K126fs	SNCB_uc021yij.1_Frame_Shift_Ins_p.T59fs|SNCB_uc003mep.3_Frame_Shift_Ins_p.T59fs|SNCB_uc003meq.3_Frame_Shift_Ins_p.T59fs|SNCB_uc021yig.1_Frame_Shift_Ins_p.T45fs|SNCB_uc021yih.1_Frame_Shift_Ins_p.T59fs|SNCB_uc021yii.1_Frame_Shift_Ins_p.T45fs			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity	p.T59N(1)		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)			CTGTTCCTTGGTTTTTTCAGCC	0.594													T	176053507	-	T	176053506	7	5	161	1	0	1	1	0	0	0	0	0	14842	1725	60	0	241	0	SNCB	5	176053506	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	942228	176053506	4861754	245	88297											
SNCB	6620	broad.mit.edu	37	chr5	176056614	176056614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgcggctgccacaacGccctccttggccatggacag	10	17	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176056614G>A	uc003mep.2	-	3	485	c.42C>T	c.(40-42)GGC>GGT	p.G14G	SNCB_uc003meq.2_Silent_p.G14G|SNCB_uc010jke.1_Silent_p.G14G|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	14							calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	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)			CTGCCACAACGCCCTCCTTGG	0.672													A	176056614	G	A	176056614	2	1	161	1	0	0	0	0	0	0	0	1	14842	1074	38	1		1	SNCB	5	176056614	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3108	176056614	4858646	246	88298											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070736	176070736	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtggaggacttctgggcGtgagtgtctgtccccagtgg	16	9	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176070736G>A	uc010jkf.1	+	5	880	c.296_splice	c.e5+1	p.A99_splice		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E						regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|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)			ACTTCTGGGCGTGAGTGTCTG	0.632													A	176070736	G	A	176070736	5	1	161	1	0	0	0	0	0	0	1	0	5029	1159	40	1	307	1	EIF4E1B	5	176070736	Splice_Site	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	14122	176070736	4844524	247	88299											
PDLIM7	9260	broad.mit.edu	37	chr5	176917892	176917892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttcttcaggtgctccTcatccgggtcttgcactgag	10	11	4	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176917892T>G	uc003mhc.1	-	7	636	c.551A>C	c.(550-552)GAG>GCG	p.E184A	PDLIM7_uc003mha.1_5'UTR|PDLIM7_uc003mhb.1_Missense_Mutation_p.E150A|PDLIM7_uc003mhd.1_Missense_Mutation_p.E36A|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.E184A|PDLIM7_uc003mhg.1_Missense_Mutation_p.E184A	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	184					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	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)			CAGGTGCTCCTCATCCGGGTC	0.602													G	176917892	T	G	176917892	3	3	161	1	0	0	0	0	1	0	0	0	11684	1551	54	5	951	5	PDLIM7	5	176917892	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	847156	176917892	3997368	248	88300											
WRNIP1	56897	broad.mit.edu	37	chr6	2785352	2785352	+	Frame_Shift_Del	DEL	C	C	-													ggaaccaccaggggccactgCcccccgtgcccctgcacctg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:2785351_2785351GC>G	uc003mtz.3	+	6	2024	c.1833_1833GC>G	c.(1831-1833)ctgfs	p.L611fs	WRNIP1_uc003mua.3_Frame_Shift_Del_p.L586fs	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	611					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGGGGCCACTGCCCCCCGTGC	0.587													-	2785352	C	-	2785352	7	5	161	1	0	1	0	1	0	0	0	0	17400	739	26	0	1860	0	WRNIP1	6	2785352	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08		2785352	168329715	249	88301											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:15496722delG	uc003nbj.2	+	7	1510	c.1266delG	c.(1264-1266)GTGfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.1_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	422					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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTAAGGAGGTGGGGGGGCGGC	0.667													-	15496722	G	-	15496722	7	5	161	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	12711370	15496722	155618345	250	88302											
KIF13A	63971	broad.mit.edu	37	chr6	17837800	17837800	+	Frame_Shift_Del	DEL	A	A	-													gtgatgatataaccaaccccAaggttgtaagcgatctgtca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:17837800delA	uc003ncg.3	-	10	950	c.845delT	c.(844-846)TTGfs	p.L282fs	KIF13A_uc003ncf.2_Frame_Shift_Del_p.L282fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.L282fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.L282fs|KIF13A_uc003ncj.2_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	282					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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AACCAACCCCAAGGTTGTAAG	0.378													-	17837800	A	-	17837800	7	5	161	1	0	1	0	1	0	0	0	0	8274	131	5	0	4717	0	KIF13A	6	17837800	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2341078	17837800	153277267	251	88303											
DCDC2	51473	broad.mit.edu	37	chr6	24289078	24289078	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaagcatctgatacttAcactccctttagactttctg	7	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:24289078A>G	uc003ndx.2	-	6	1061	c.759_splice	c.e6+1	p.S253_splice	DCDC2_uc003ndy.2_Splice_Site_p.S253_splice	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2						cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				TCTGATACTTACACTCCCTTT	0.353													G	24289078	A	G	24289078	5	3	161	1	0	0	0	0	0	0	1	0	4285	405	14	3	689	3	DCDC2	6	24289078	Splice_Site	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	6451278	24289078	146825989	252	88304											
PGBD1	84547	broad.mit.edu	37	chr6	28269709	28269709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgttggtatggggatgGcattatcagtctgtgctcca	14	7	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28269709G>A	uc003nky.2	+	7	2448	c.2078G>A	c.(2077-2079)GGC>GAC	p.G693D	PGBD1_uc003nkz.2_Missense_Mutation_p.G693D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	693					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						TATGGGGATGGCATTATCAGT	0.383													A	28269709	G	A	28269709	3	1	161	1	0	0	0	0	1	0	0	0	11780	1203	42	2	2100	2	PGBD1	6	28269709	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3980631	28269709	142845358	253	88305											
PGBD1	84547	broad.mit.edu	37	chr6	28269912	28269913	+	Frame_Shift_Ins	INS	-	-	T													aagcaagaaatggtactcaaINSttttggtgagctacatgatt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28269912_28269913insT	uc003nky.2	+	7	2651_2652	c.2281_2282insT	c.(2281-2283)ATTfs	p.I761fs	PGBD1_uc003nkz.2_Frame_Shift_Ins_p.I761fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	761					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						ATGGTACTCAATTTTGGTGAGC	0.406													T	28269913	-	T	28269912	7	5	161	1	0	1	1	0	0	0	0	0	11780	101	4	0	2303	0	PGBD1	6	28269912	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	203	28269912	142845155	254	88306	432	2									
PGBD1	84547	broad.mit.edu	37	chr6	28269913	28269914	+	Frame_Shift_Ins	INS	-	-	T													agcaagaaatggtactcaatINStttggtgagctacatgattg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28269912_28269913A>AT	uc003nky.3	+	6	2701_2702	c.2281_2282A>AT	c.(2281-2283)attfs	p.I761fs	PGBD1_uc003nkz.3_Frame_Shift_Ins_p.I761fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	761					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						ATGGTACTCAATTTTGGTGAGC	0.406													T	28269914	-	T	28269913	7	5	161	1	0	1	1	0	0	0	0	0	11780	1493	52	0	2304	0	PGBD1	6	28269913	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	28269913	142845154	255	88307	432	2									
ZNF311	282890	broad.mit.edu	37	chr6	28963905	28963905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggattatccggtgcaTagaaagctgatttctggtct	12	6	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28963905T>C	uc003nlu.2	-	7	1387	c.874A>G	c.(874-876)ATG>GTG	p.M292V	ZNF311_uc011dlk.1_Missense_Mutation_p.M200V|ZNF311_uc003nlv.2_Missense_Mutation_p.M200V	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	292	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ATCCGGTGCATAGAAAGCTGA	0.438													C	28963905	T	C	28963905	3	2	161	1	0	0	0	0	1	0	0	0	17831	1406	49	3	1130	3	ZNF311	6	28963905	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	693992	28963905	142151162	256	88308											
PRR3	80742	broad.mit.edu	37	chr6	30529885	30529885	+	Frame_Shift_Del	DEL	C	C	-													acctgcccgcccaaggatgaCccccaggttatggaaggtga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:30529885delC	uc003nqi.1	+	3	810	c.444delC	c.(442-444)GACfs	p.D148fs	PRR3_uc003nqj.1_Frame_Shift_Del_p.D127fs	NM_025263	NP_079539	P79522	PRR3_HUMAN	proline-rich protein 3 isoform a	148							nucleic acid binding|zinc ion binding				0						CCAAGGATGACCCCCAGGTTA	0.488													-	30529885	C	-	30529885	7	5	161	1	0	1	0	1	0	0	0	0	12598	506	18	0	454	0	PRR3	6	30529885	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1565980	30529885	140585182	257	88309											
VARS2	57176	broad.mit.edu	37	chr6	30890885	30890885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcttcccttccagcgggCgacttgcacctgtcagtctc	9	15	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:30890885C>T	uc003nsc.1	+	23	2822	c.2190C>T	c.(2188-2190)GGC>GGT	p.G730G	VARS2_uc011dmx.1_Silent_p.G730G|VARS2_uc011dmy.1_Silent_p.G590G|VARS2_uc011dmz.1_Silent_p.G760G|VARS2_uc011dna.1_Silent_p.G728G|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.G168G|VARS2_uc010jsg.1_Silent_p.G102G|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	730					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TTCCAGCGGGCGACTTGCACC	0.567													T	30890885	C	T	30890885	2	4	161	1	0	0	0	0	0	0	0	1	17121	755	27	1		1	VARS2	6	30890885	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	361000	30890885	140224182	258	88310											
HLA-B	3106	broad.mit.edu	37	chr6	31323192	31323192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacagctgcccacttcTggaaggttctatctcctgct	7	16	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:31323192T>C	uc003nth.2	-	4	851	c.797A>G	c.(796-798)CAG>CGG	p.Q266R	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.Q145R|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	266	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).			Q -> E (in Ref. 16; AA sequence).	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				0						TGCCCACTTCTGGAAGGTTCT	0.582									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				C	31323192	T	C	31323192	3	2	161	1	0	0	0	0	1	0	0	0	7196	1580	55	3	307	3	HLA-B	6	31323192	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	432307	31323192	139791875	259	88311											
SLC39A7	7922	broad.mit.edu	37	chr6	33169042	33169042	+	Frame_Shift_Del	DEL	C	C	-													gatggccagaggcctgggggCcccccactgggtggccgtgg					rs2975298		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:33169042delC	uc003odf.2	+	2	137	c.20delC	c.(19-21)GCCfs	p.A7fs	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Frame_Shift_Del_p.A7fs|SLC39A7_uc011dqv.1_5'UTR|SLC39A7_uc003odh.2_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	7				A -> G (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						GGCCTGGGGGCCCCCCACTGG	0.627													-	33169042	C	-	33169042	7	5	161	1	0	1	0	1	0	0	0	0	14623	739	26	0	22	0	SLC39A7	6	33169042	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1845850	33169042	137946025	260	88312											
RGL2	5863	broad.mit.edu	37	chr6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C													gcggatgaggtcagcgctgcINScccccccaacacccttccct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	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						GGTCAGCGCTGCCCCCCCCAAC	0.653													C	33263966	-	C	33263965	7	5	161	1	0	1	1	0	0	0	0	0	13277	739	26	0	1777	0	RGL2	6	33263965	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	94923	33263965	137851102	261	88313											
SYNGAP1	8831	broad.mit.edu	37	chr6	33419549	33419549	+	Frame_Shift_Del	DEL	C	C	-													tcttgcaggagaggcagcttCcccccttgggtccaacaaac							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:33419549delC	uc011dri.1	+	19	4093	c.3898delC	c.(3898-3900)CCCfs	p.P1300fs	ZBTB9_uc003oeq.2_5'Flank|SYNGAP1_uc010juy.2_Frame_Shift_Del_p.P1269fs|SYNGAP1_uc010juz.2_3'UTR	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1300					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GAGGCAGCTTCCCCCCTTGGG	0.647													-	33419549	C	-	33419549	7	5	161	1	0	1	0	1	0	0	0	0	15444	855	30	0	3972	0	SYNGAP1	6	33419549	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	155584	33419549	137695518	262	88314											
SNRPC	6631	broad.mit.edu	37	chr6	34735762	34735763	+	Frame_Shift_Ins	INS	-	-	C													aggggcgatgataccacctcINScccccagccttcgtaagttt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:34735761_34735762T>TC	uc003ojt.2	+	3	687_688	c.237_238T>TC	c.(235-240)cctcccfs	p.P79fs	SNRPC_uc021yyv.1_Frame_Shift_Ins_p.P38fs|SNRPC_uc021yyw.1_Frame_Shift_Ins_p.P100fs	NM_003093	NP_003084	P09234	RU1C_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA.	79					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGATACCACCTCCCCCCAGCCT	0.47													C	34735763	-	C	34735762	7	5	161	1	0	1	1	0	0	0	0	0	14863	855	30	0	252	0	SNRPC	6	34735762	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1316213	34735762	136379305	263	88315											
CPNE5	57699	broad.mit.edu	37	chr6	36710206	36710206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacgtctcgggccaggcGggccatgctcagcacgtggt	15	14	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:36710206G>A	uc003omr.1	-	21	1688	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	CPNE5_uc003omp.1_Missense_Mutation_p.R249C|CPNE5_uc010jwn.1_Missense_Mutation_p.R191C|CPNE5_uc003omq.1_Missense_Mutation_p.R191C	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	541	VWFA.									skin(1)	1						CGGGCCAGGCGGGCCATGCTC	0.652													A	36710206	G	A	36710206	3	1	161	1	0	0	0	0	1	0	0	0	3815	1116	39	1	164	1	CPNE5	6	36710206	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1974444	36710206	134404861	264	88316											
PIM1	5292	broad.mit.edu	37	chr6	37140777	37140777	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttggctcacagggaccCgagtgtatagccctccagag	11	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:37140777C>T	uc003onk.2	+	5	1043	c.613C>T	c.(613-615)CGA>TGA	p.R205*	PIM1_uc011dtw.1_Silent_p.P73P	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	296	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 binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CACAGGGACCCGAGTGTATAG	0.478			T	BCL6	NHL								T	37140777	C	T	37140777	4	4	161	1	0	0	0	0	0	1	0	0	11927	644	23	1	631	1	PIM1	6	37140777	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	430571	37140777	133974290	265	88317											
BTBD9	114781	broad.mit.edu	37	chr6	38560397	38560397	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catatcccggctctcagatcGcactttaatggcatccagga	8	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:38560397G>T	uc003ooa.3	-	5	1345	c.769C>A	c.(769-771)CGA>AGA	p.R257R	BTBD9_uc003ony.3_Silent_p.R189R|BTBD9_uc010jwv.2_Silent_p.R189R|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.R257R	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	257					cell adhesion						0						CTCTCAGATCGCACTTTAATG	0.498													T	38560397	G	T	38560397	2	4	161	1	0	0	0	0	0	0	0	1	1548	1095	38	5		5	BTBD9	6	38560397	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1419620	38560397	132554670	266	88318											
DNAH8	1769	broad.mit.edu	37	chr6	38791409	38791409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactatgctacttttgaacaGgagattgatgagttgaagcc	10	7	0	5			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:38791409G>T	uc003ooe.1	+	26	3741	c.3141G>T	c.(3139-3141)CAG>CAT	p.Q1047H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CTTTTGAACAGGAGATTGATG	0.313													T	38791409	G	T	38791409	3	4	161	1	0	0	0	0	1	0	0	0	4607	991	35	5	3235	5	DNAH8	6	38791409	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	231012	38791409	132323658	267	88319											
DNAH8	1769	broad.mit.edu	37	chr6	38997965	38997965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggaatccacccccaagGtactcttcacgcagttaccc	6	16	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:38997965G>A	uc003ooe.1	+	91	13870	c.13270G>A	c.(13270-13272)GTA>ATA	p.V4424I		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CACCCCCAAGGTACTCTTCAC	0.512											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	38997965	G	A	38997965	3	1	161	1	0	0	0	0	1	0	0	0	4607	1261	44	4	13624	4	DNAH8	6	38997965	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	206556	38997965	132117102	268	88320											
ABCC10	89845	broad.mit.edu	37	chr6	43400360	43400360	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagaacctgaggtggcTgaagatggggagagttggct	17	5	1	5	rs141145411		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:43400360T>C	uc003ouy.1	+	3	857	c.642T>C	c.(640-642)GCT>GCC	p.A214A	ABCC10_uc003ouz.1_Silent_p.A171A	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	214						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(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)			CTGAGGTGGCTGAAGATGGGG	0.632													C	43400360	T	C	43400360	2	2	161	1	0	0	0	0	0	0	0	1	50	1567	55	3		3	ABCC10	6	43400360	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	4402395	43400360	127714707	269	88321											
PRIM2	5558	broad.mit.edu	37	chr6	57372344	57372344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaagacttcagcctctgctCaatcacctcaggtaatctaa	6	12	6	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:57372344C>T	uc003pdx.2	+	8	837	c.750C>T	c.(748-750)CTC>CTT	p.L250L		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	250					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	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGCCTCTGCTCAATCACCTCA	0.408													T	57372344	C	T	57372344	2	4	161	1	0	0	0	0	0	0	0	1	12491	813	29	4		4	PRIM2	6	57372344	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	13971984	57372344	113742723	270	88322											
EYS	346007	broad.mit.edu	37	chr6	66054010	66054010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggttgcatcttcagtgCagtttgcagccagaaagaaa	10	8	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:66054010C>T	uc011dxu.1	-	10	2058	c.1520G>A	c.(1519-1521)TGC>TAC	p.C507Y	EYS_uc003peq.2_Missense_Mutation_p.C507Y|EYS_uc003per.1_Missense_Mutation_p.C507Y	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	507					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						ATCTTCAGTGCAGTTTGCAGC	0.353													T	66054010	C	T	66054010	3	4	161	1	0	0	0	0	1	0	0	0	5332	710	25	2	8012	2	EYS	6	66054010	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	8681666	66054010	105061057	271	88323											
COL9A1	1297	broad.mit.edu	37	chr6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-													catcgatgcctggaactccaGgggggcccggaggcccggga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:70991120_70991120AG>A	uc003pfg.4	-	7	1008	c.849_849CT>T	c.(847-849)cctfs	p.P283fs	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Frame_Shift_Del_p.P40fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGGAACTCCAGGGGGGCCCG	0.597													-	70991121	G	-	70991121	7	5	161	1	0	1	0	1	0	0	0	0	3707	1000	35	0	2041	0	COL9A1	6	70991121	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4937111	70991121	100123946	272	88324											
MYO6	4646	broad.mit.edu	37	chr6	76591511	76591511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctggaagaaagttcagTggtgctcactctcagtcatc	11	10	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:76591511T>C	uc003pih.1	+	23	2671	c.2392T>C	c.(2392-2394)TGG>CGG	p.W798R	MYO6_uc003pig.1_Missense_Mutation_p.W798R|MYO6_uc003pii.1_Missense_Mutation_p.W798R	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	798	Required for binding calmodulin (By similarity).				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			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAAGTTCAGTGGTGCTCACT	0.418													C	76591511	T	C	76591511	3	2	161	1	0	0	0	0	1	0	0	0	10081	1696	59	3	2478	3	MYO6	6	76591511	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	5600390	76591511	94523556	273	88325											
SNAP91	9892	broad.mit.edu	37	chr6	84265953	84265953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgactggcaggtgtaggGcttggagaaagctaatggga	16	6	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:84265953G>A	uc011dze.1	-	28	2960	c.2643C>T	c.(2641-2643)AGC>AGT	p.S881S	SNAP91_uc011dzd.1_Silent_p.S379S|SNAP91_uc003pkb.2_Silent_p.S790S|SNAP91_uc003pkc.2_Silent_p.S851S|SNAP91_uc003pkd.2_Silent_p.S574S|SNAP91_uc003pka.2_Silent_p.S879S	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	881	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		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)		CAGGTGTAGGGCTTGGAGAAA	0.438													A	84265953	G	A	84265953	2	1	161	1	0	0	0	0	0	0	0	1	14833	1194	42	2		2	SNAP91	6	84265953	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7674442	84265953	86849114	274	88326											
NT5E	4907	broad.mit.edu	37	chr6	86197150	86197150	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtctatctggatggctcCtctcaatcatgccgctttag	8	11	4	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:86197150C>A	uc003pko.3	+	5	1603	c.1047C>A	c.(1045-1047)TCC>TCA	p.S349S	NT5E_uc010kbr.2_Silent_p.S349S	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	349					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			ovary(3)|central_nervous_system(1)	4		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)	TGGATGGCTCCTCTCAATCAT	0.373													A	86197150	C	A	86197150	2	1	161	1	0	0	0	0	0	0	0	1	10693	668	24	5		5	NT5E	6	86197150	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1931197	86197150	84917917	275	88327											
PRDM13	59336	broad.mit.edu	37	chr6	100062523	100062523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccgggtgccgagcccgGctatcccccggagcctgggg	17	17	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:100062523G>A	uc003pqg.1	+	4	2273	c.2012G>A	c.(2011-2013)GGC>GAC	p.G671D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GCCGAGCCCGGCTATCCCCCG	0.701													A	100062523	G	A	100062523	3	1	161	1	0	0	0	0	1	0	0	0	12454	1203	42	2	2026	2	PRDM13	6	100062523	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	13865373	100062523	71052544	276	88328											
ATG5	9474	broad.mit.edu	37	chr6	106634539	106634539	+	Frame_Shift_Del	DEL	T	T	-													catgaatcatcacttgattcTttttttccccatctattcca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:106634539delT	uc003prf.2	-	8	1057	c.704delA	c.(703-705)AAGfs	p.K235fs	ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Frame_Shift_Del_p.K157fs|ATG5_uc010kdc.2_3'UTR	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	APG5 autophagy 5-like	235					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			large_intestine(1)	1	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACTTGATTCTTTTTTTCCCC	0.368													-	106634539	T	-	106634539	7	5	161	1	0	1	0	1	0	0	0	0	1100	1609	56	0	127	0	ATG5	6	106634539	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	6572016	106634539	64480528	277	88329											
CDC40	51362	broad.mit.edu	37	chr6	110534291	110534291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatacctttttatagggCgtcagtgcagtcagattgtt	10	6	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:110534291C>T	uc003pua.2	+	8	894	c.870C>T	c.(868-870)GGC>GGT	p.G290G		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	290	WD 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		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)		TTTTATAGGGCGTCAGTGCAG	0.378													T	110534291	C	T	110534291	2	4	161	1	0	0	0	0	0	0	0	1	3070	755	27	1		1	CDC40	6	110534291	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3899752	110534291	60580776	278	88330											
SLC22A16	85413	broad.mit.edu	37	chr6	110778069	110778069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgtcctccaaactccAattagagtgattatggaaaa	8	10	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:110778069A>G	uc003puf.2	-	2	272	c.205T>C	c.(205-207)TGG>CGG	p.W69R	SLC22A16_uc003pue.2_Intron|SLC22A16_uc003pug.2_Missense_Mutation_p.W69R	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	69					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		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)		TCCAAACTCCAATTAGAGTGA	0.498													G	110778069	A	G	110778069	3	3	161	1	0	0	0	0	1	0	0	0	14447	130	5	3	1556	3	SLC22A16	6	110778069	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	243778	110778069	60336998	279	88331											
TSPYL4	23270	broad.mit.edu	37	chr6	116574135	116574135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggatagtgttcccttccCggtttctgtggatatgagcc	12	9	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:116574135C>T	uc003pwn.2	-	1	1127	c.1037G>A	c.(1036-1038)CGG>CAG	p.R346Q	DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Missense_Mutation_p.R174Q|uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	346					nucleosome assembly	nucleus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GTTCCCTTCCCGGTTTCTGTG	0.512													T	116574135	C	T	116574135	3	4	161	1	0	0	0	0	1	0	0	0	16658	652	23	1	211	1	TSPYL4	6	116574135	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5796066	116574135	54540932	280	88332											
ZUFSP	221302	broad.mit.edu	37	chr6	116966910	116966910	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagagcaccctctacTgccaatatctggtattgctt	8	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:116966910T>C	uc003pxf.1	-	9	1902	c.1656A>G	c.(1654-1656)GCA>GCG	p.A552A	ZUFSP_uc010kef.1_Silent_p.A356A	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	552						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CACCCTCTACTGCCAATATCT	0.318													C	116966910	T	C	116966910	2	2	161	1	0	0	0	0	0	0	0	1	18243	1567	55	3		3	ZUFSP	6	116966910	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	392775	116966910	54148157	281	88333											
HBS1L	10767	broad.mit.edu	37	chr6	135300363	135300363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtaagactaacatgatcGcctgctgccgcccagtcgac	9	13	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:135300363G>A	uc003qez.2	-	14	1848	c.1641C>T	c.(1639-1641)GGC>GGT	p.G547G	HBS1L_uc003qey.2_Silent_p.G383G|HBS1L_uc011ecy.1_Silent_p.G271G|HBS1L_uc011ecz.1_Silent_p.G383G|HBS1L_uc011eda.1_Silent_p.G505G	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	547					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TAACATGATCGCCTGCTGCCG	0.428													A	135300363	G	A	135300363	2	1	161	1	0	0	0	0	0	0	0	1	6987	1074	38	1		1	HBS1L	6	135300363	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	18333453	135300363	35814704	282	88334											
IFNGR1	3459	broad.mit.edu	37	chr6	137519585	137519585	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcaccacttctgttatActagaaagttcttctgtatg	7	8	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:137519585A>G	uc003qho.2	-	7	1156	c.1053T>C	c.(1051-1053)AGT>AGC	p.S351S	IFNGR1_uc011edm.1_Silent_p.S323S	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	351	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTTCTGTTATACTAGAAAGTT	0.458													G	137519585	A	G	137519585	2	3	161	1	0	0	0	0	0	0	0	1	7549	388	14	3		3	IFNGR1	6	137519585	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2219222	137519585	33595482	283	88335											
HECA	51696	broad.mit.edu	37	chr6	139488308	139488308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaagttcattctggccGcgctcagtgccagccacaga	12	13	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:139488308G>A	uc003qin.2	+	2	1444	c.1159G>A	c.(1159-1161)GCG>ACG	p.A387T		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	387					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATTCTGGCCGCGCTCAGTGC	0.582													A	139488308	G	A	139488308	3	1	161	1	0	0	0	0	1	0	0	0	7038	1087	38	1	1165	1	HECA	6	139488308	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1968723	139488308	31626759	284	88336											
CITED2	10370	broad.mit.edu	37	chr6	139694554	139694554	+	Frame_Shift_Del	DEL	G	G	-													gagctgctgccagagccgccGggggtgctgctgccgcccga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:139694554delG	uc003qip.1	-	2	772	c.528delC	c.(526-528)CCCfs	p.P176fs		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	176	Gly-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGAGCCGCCGGGGGTGCTGC	0.542													-	139694554	G	-	139694554	7	5	161	1	0	1	0	1	0	0	0	0	3440	1103	39	0	288	0	CITED2	6	139694554	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	206246	139694554	31420513	285	88337											
PHACTR2	9749	broad.mit.edu	37	chr6	144095279	144095279	+	Frame_Shift_Del	DEL	A	A	-													ctaagaaagaactagaggacAaaaacatcttgcagcgtaca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:144095279delA	uc003qjq.3	+	8	1613	c.1483delA	c.(1483-1485)AAAfs	p.K495fs	PHACTR2_uc010khh.2_Frame_Shift_Del_p.K415fs|PHACTR2_uc010khi.2_Frame_Shift_Del_p.K506fs|PHACTR2_uc003qjr.3_Frame_Shift_Del_p.K426fs	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	495	RPEL 2.						actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACTAGAGGACAAAAACATCTT	0.413													-	144095279	A	-	144095279	7	5	161	1	0	1	0	1	0	0	0	0	11810	131	5	0	1563	0	PHACTR2	6	144095279	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	4400725	144095279	27019788	286	88338											
UTRN	7402	broad.mit.edu	37	chr6	144843173	144843175	+	In_Frame_Del	DEL	CTT	CTT	-													cttctggaattagatcatcaCttcttcctacagattatctg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:144843172_144843174ACTT>A	uc003qkt.3	+	38	5690_5692	c.5598_5600ACTT>A	c.(5596-5601)tcactt>tcAt	p.L1868del		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1868					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	p.L1868F(1)		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)		TTAGATCATCACTTCTTCCTACA	0.31													-	144843175	CTT	-	144843173	7	5	161	1	0	1	0	1	0	0	0	0	17100	565	20	0	5753	0	UTRN	6	144843173	In_Frame_Del	DEL	CTT	TCGA-CD-A4MJ-01A-11D-A25D-08	747894	144843173	26271894	287	88339											
UTRN	7402	broad.mit.edu	37	chr6	145161969	145161969	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtttccatcttgctgccGtgagtatgaaagattgcagc	10	10	1	3	rs141700678		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:145161969G>A	uc003qkt.2	+	72	10362	c.10270_splice	c.e72+1	p.P3424_splice		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin						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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTGCTGCCGTGAGTATGAA	0.542													A	145161969	G	A	145161969	5	1	161	1	0	0	0	0	0	0	1	0	17100	1159	40	1	10557	1	UTRN	6	145161969	Splice_Site	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	318796	145161969	25953098	288	88340											
LATS1	9113	broad.mit.edu	37	chr6	150004778	150004778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcagtgactgttgtagCagaaggctgagaattagcag	13	5	0	3	rs147658805	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:150004778C>T	uc003qmu.1	-	4	1995	c.1447G>A	c.(1447-1449)GCT>ACT	p.A483T	LATS1_uc010kif.1_Missense_Mutation_p.A378T|LATS1_uc003qmv.1_Missense_Mutation_p.A483T|LATS1_uc003qmw.2_Missense_Mutation_p.A483T|LATS1_uc010kig.1_Missense_Mutation_p.A378T	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	483					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTGTTGTAGCAGAAGGCTGA	0.413													T	150004778	C	T	150004778	3	4	161	1	0	0	0	0	1	0	0	0	8646	710	25	2	1965	2	LATS1	6	150004778	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4842809	150004778	21110289	289	88341											
LRP11	84918	broad.mit.edu	37	chr6	150164195	150164195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggcagtgtccgtcacGgtcagctggaaggtgtaggt	16	10	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:150164195G>A	uc003qng.2	-	3	1161	c.837C>T	c.(835-837)ACC>ACT	p.T279T	LRP11_uc003qnh.1_Silent_p.T279T	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	279	PKD.|Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TGTCCGTCACGGTCAGCTGGA	0.587													A	150164195	G	A	150164195	2	1	161	1	0	0	0	0	0	0	0	1	8953	1103	39	1		1	LRP11	6	150164195	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	159417	150164195	20950872	290	88342											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153343	151153343	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggagggcccgccattggTatgtgcaccctgcccttctt	11	14	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:151153343T>C	uc003qny.1	+	16	3406	c.3094_splice	c.e16+2	p.G1032_splice	PLEKHG1_uc011eem.1_Splice_Site_p.G1091_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGCCATTGGTATGTGCACCC	0.532													C	151153343	T	C	151153343	5	2	161	1	0	0	0	0	0	0	1	0	12068	1652	57	3	3150	3	PLEKHG1	6	151153343	Splice_Site	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	989148	151153343	19961724	291	88343											
AKAP12	9590	broad.mit.edu	37	chr6	151672365	151672365	+	Frame_Shift_Del	DEL	C	C	-													aagtaattgcagaagaagaaCcccccacggttactgaacct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:151672364_151672364AC>A	uc011eep.2	+	3	3078	c.2838_2838AC>A	c.(2836-2838)gaafs	p.E946fs	AKAP12_uc003qoe.3_Frame_Shift_Del_p.E946fs|AKAP12_uc003qof.3_Frame_Shift_Del_p.E848fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Del_p.E841fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	946				E -> G (in Ref. 4; CAH18338).	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)		CAGAAGAAGAACCCCCCACGG	0.527													-	151672365	C	-	151672365	7	5	161	1	0	1	0	1	0	0	0	0	448	507	18	0	2878	0	AKAP12	6	151672365	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	519022	151672365	19442702	292	88344											
SYNE1	23345	broad.mit.edu	37	chr6	152737985	152737985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggacagggcaagctgccGcctctccacaacctggctgg	13	14	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:152737985G>A	uc010kiw.2	-	41	6189	c.5587C>T	c.(5587-5589)CGG>TGG	p.R1863W	SYNE1_uc003qot.3_Missense_Mutation_p.R1870W|SYNE1_uc003qou.3_Missense_Mutation_p.R1863W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1846W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1863	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAAGCTGCCGCCTCTCCACA	0.602										HNSCC(10;0.0054)			A	152737985	G	A	152737985	3	1	161	1	0	0	0	0	1	0	0	0	15442	1086	38	1	21303	1	SYNE1	6	152737985	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1065620	152737985	18377082	293	88345											
RNASET2	8635	broad.mit.edu	37	chr6	167352430	167352432	+	In_Frame_Del	DEL	CTT	CTT	-													tccaggcttctgccaaagtaCttcttctgggagttgagcgc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:167352429_167352431ACTT>A	uc003qve.3	-	5	805_807	c.398_400AAGT>T	c.(397-402)aagtac>aTac	p.133_134KY>I	RNASET2_uc003qvf.3_In_Frame_Del_p.41_42KY>I|RNASET2_uc003qvi.1_In_Frame_Del_p.S21del	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	133					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			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)		CTGCCAAAGTACTTCTTCTGGGA	0.567													-	167352432	CTT	-	167352430	7	5	161	1	0	1	0	1	0	0	0	0	13418	564	20	0	387	0	RNASET2	6	167352430	In_Frame_Del	DEL	CTT	TCGA-CD-A4MJ-01A-11D-A25D-08	14614445	167352430	3762637	294	88346											
UNC93A	54346	broad.mit.edu	37	chr6	167728874	167728874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgtggagtccaagaacccGatcagaccccacgctccagg	11	15	1	2	rs147514798		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:167728874G>A	uc003qvq.2	+	8	1483	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P	UNC93A_uc003qvr.2_Silent_p.P394P	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	436						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAAGAACCCGATCAGACCCC	0.532													A	167728874	G	A	167728874	2	1	161	1	0	0	0	0	0	0	0	1	16993	1045	37	1		1	UNC93A	6	167728874	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	376444	167728874	3386193	295	88347											
SMOC2	64094	broad.mit.edu	37	chr6	168999624	168999624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagtgccacccctccaCggggtactgctggtgcgtcc	13	15	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:168999624C>T	uc003qws.1	+	8	784	c.764C>T	c.(763-765)ACG>ATG	p.T255M	SMOC2_uc003qwr.1_Missense_Mutation_p.T266M	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	255	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CACCCCTCCACGGGGTACTGC	0.652													T	168999624	C	T	168999624	3	4	161	1	0	0	0	0	1	0	0	0	14802	536	19	1	827	1	SMOC2	6	168999624	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1270750	168999624	2115443	296	88348											
AIMP2	7965	broad.mit.edu	37	chr7	6063167	6063167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggaagagcccttggctcGctgggaatgaactcaccgta	13	10	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:6063167G>A	uc003spo.2	+	4	921	c.808G>A	c.(808-810)GCT>ACT	p.A270T	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	270	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CCCTTGGCTCGCTGGGAATGA	0.517													A	6063167	G	A	6063167	3	1	161	1	0	0	0	0	1	0	0	0	434	1087	38	1	822	1	AIMP2	7	6063167	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		6063167	153075496	297	88349											
INMT	11185	broad.mit.edu	37	chr7	30795206	30795206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagccttgatgcctaccgCgctgccctgtgcaaccttgc	10	15	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:30795206C>T	uc003tbs.1	+	3	547	c.531C>T	c.(529-531)CGC>CGT	p.R177R	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.R176R	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	177						cytoplasm	amine N-methyltransferase activity				0						ATGCCTACCGCGCTGCCCTGT	0.647													T	30795206	C	T	30795206	2	4	161	1	0	0	0	0	0	0	0	1	7745	755	27	1		1	INMT	7	30795206	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	24732039	30795206	128343457	298	88350											
GLI3	2737	broad.mit.edu	37	chr7	42187878	42187878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggcaaacaccgtcccgCggtacggcacagagggctcc	12	16	0	1	rs78749834		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:42187878C>T	uc011kbh.1	-	3	405	c.314G>A	c.(313-315)CGC>CAC	p.R105H	GLI3_uc011kbg.1_Missense_Mutation_p.R46H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	105					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CACCGTCCCGCGGTACGGCAC	0.587									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42187878	C	T	42187878	3	4	161	1	0	0	0	0	1	0	0	0	6439	768	27	1	4480	1	GLI3	7	42187878	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	11392672	42187878	116950785	299	88351											
PGAM2	5224	broad.mit.edu	37	chr7	44102368	44102368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagcccacccctcactTggccttgccctgggcagcca	9	20	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:44102368T>C	uc003tjs.2	-	3	792	c.757A>G	c.(757-759)AAG>GAG	p.K253E		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	253					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						ACCCCTCACTTGGCCTTGCCC	0.637													C	44102368	T	C	44102368	3	2	161	1	0	0	0	0	1	0	0	0	11774	1821	63	3	8	3	PGAM2	7	44102368	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1914490	44102368	115036295	300	88352											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-													agcttatgtccagcagagctGggggggtgcaacccggggga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)					-	44120414	G	-	44120414	7	5	161	1	0	1	0	1	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	18046	44120414	115018249	301	88353											
AEBP1	165	broad.mit.edu	37	chr7	44144334	44144334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccctgtgccctggagggCgcccgcagacggtgctgacc	16	15	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:44144334C>T	uc003tkb.2	+	1	375	c.70C>T	c.(70-72)CGC>TGC	p.R24C		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	24					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				0						CCCTGGAGGGCGCCCGCAGAC	0.493													T	44144334	C	T	44144334	3	4	161	1	0	0	0	0	1	0	0	0	349	768	27	1	72	1	AEBP1	7	44144334	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	23920	44144334	114994329	302	88354											
GRB10	2887	broad.mit.edu	37	chr7	50771608	50771608	+	Splice_Site	DEL	A	A	-													tgtctgctccaccttgtcctAaaaaaacaggaccgcagcag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			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)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome				-	50771608	A	-	50771608	8	5	161	1	0	1	0	1	0	0	1	0	6756	377	13	0		0	GRB10	7	50771608	Splice_Site	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	6627274	50771608	108367055	303	88355											
COBL	23242	broad.mit.edu	37	chr7	51287562	51287563	+	Frame_Shift_Ins	INS	-	-	G													gacccgagggccccatcgtgINSggggggcttctggtcactgt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:51287561_51287562T>TG	uc003tps.3	-	1	306_307	c.121_122A>CA	c.(121-123)cacfs	p.H41fs	COBL_uc003tpr.4_Frame_Shift_Ins_p.H41fs|COBL_uc011kcl.2_Frame_Shift_Ins_p.H41fs|COBL_uc010kzc.3_Frame_Shift_Ins_p.H41fs|COBL_uc003tpt.3_Frame_Shift_Ins_p.H41fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	41										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)					GGCCCCATCGTGGGGGGGCTTC	0.604													G	51287563	-	G	51287562	7	5	161	1	0	1	1	0	0	0	0	0	3653	1348	47	0	3712	0	COBL	7	51287562	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	515954	51287562	107851101	304	88356											
AUTS2	26053	broad.mit.edu	37	chr7	70255656	70255656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggccacctggacgagCgggagcgcttgcacatgctc	17	12	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:70255656C>T	uc003tvw.3	+	19	4197	c.3454C>T	c.(3454-3456)CGG>TGG	p.R1152W	AUTS2_uc003tvx.3_Missense_Mutation_p.R1128W|AUTS2_uc011keg.1_Missense_Mutation_p.R604W	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1152	His-rich.									ovary(2)|central_nervous_system(1)	3		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)		CCTGGACGAGCGGGAGCGCTT	0.602													T	70255656	C	T	70255656	3	4	161	1	0	0	0	0	1	0	0	0	1225	759	27	1	3673	1	AUTS2	7	70255656	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	18968094	70255656	88883007	305	88357											
SRCRB4D	136853	broad.mit.edu	37	chr7	76019509	76019509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtccaggagaatggggcctCggcctgggccaaagtgagcc	16	11	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:76019509C>T	uc003ufb.2	-	11	1943	c.1595G>A	c.(1594-1596)CGA>CAA	p.R532Q	SRCRB4D_uc003ufa.2_Missense_Mutation_p.E34K	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	532	SRCR 4.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						AATGGGGCCTCGGCCTGGGCC	0.647													T	76019509	C	T	76019509	3	4	161	1	0	0	0	0	1	0	0	0	15136	884	31	1	136	1	SRCRB4D	7	76019509	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5763853	76019509	83119154	306	88358											
DTX2	113878	broad.mit.edu	37	chr7	76121562	76121562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcagagtccagcaggCgctcgcaggtaggtgcctga	15	13	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:76121562C>A	uc003uff.3	+	6	1557	c.1001C>A	c.(1000-1002)GCG>GAG	p.A334E	DTX2_uc011kgk.1_Missense_Mutation_p.A243E|DTX2_uc003ufg.3_Missense_Mutation_p.A334E|DTX2_uc003ufh.3_Missense_Mutation_p.A334E|DTX2_uc003ufj.3_Missense_Mutation_p.A334E|DTX2_uc003ufk.3_Missense_Mutation_p.A12E	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	334					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTCCAGCAGGCGCTCGCAGGT	0.652													A	76121562	C	A	76121562	3	1	161	1	0	0	0	0	1	0	0	0	4794	768	27	5	1011	5	DTX2	7	76121562	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	102053	76121562	83017101	307	88359											
SEMA3D	223117	broad.mit.edu	37	chr7	84647590	84647590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagagacaattccatgTtcaagatgattgatgagtgc	10	7	2	5			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:84647590T>G	uc003uic.2	-	13	1563	c.1523A>C	c.(1522-1524)AAC>ACC	p.N508T	SEMA3D_uc010led.2_Missense_Mutation_p.N508T|SEMA3D_uc003uib.2_Missense_Mutation_p.N147T	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	508	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CAATTCCATGTTCAAGATGAT	0.284													G	84647590	T	G	84647590	3	3	161	1	0	0	0	0	1	0	0	0	14027	1725	60	5	830	5	SEMA3D	7	84647590	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	8526028	84647590	74491073	308	88360											
RUNDC3B	154661	broad.mit.edu	37	chr7	87407118	87407118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactggatttccagggttAccttgaagaactcttacgac	9	9	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:87407118A>G	uc003ujb.2	+	9	1265	c.854A>G	c.(853-855)TAC>TGC	p.Y285C	RUNDC3B_uc011khd.1_Missense_Mutation_p.Y268C|RUNDC3B_uc011khe.1_Missense_Mutation_p.Y268C|RUNDC3B_uc003ujc.2_Missense_Mutation_p.Y268C|RUNDC3B_uc003ujd.2_Missense_Mutation_p.Y190C	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	285										skin(1)	1	Esophageal squamous(14;0.00164)					TTCCAGGGTTACCTTGAAGAA	0.353													G	87407118	A	G	87407118	3	3	161	1	0	0	0	0	1	0	0	0	13745	391	14	3	888	3	RUNDC3B	7	87407118	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2759528	87407118	71731545	309	88361											
C7orf64	84060	broad.mit.edu	37	chr7	92158224	92158224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatcgagagggacgacggCctcgtgctgtgaaggtaaag	15	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:92158224C>T	uc003ulz.2	+	1	138	c.97C>T	c.(97-99)CCT>TCT	p.P33S	PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Missense_Mutation_p.P33S|C7orf64_uc003uma.2_Missense_Mutation_p.P33S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	33							nucleotide binding			ovary(2)	2						GGGACGACGGCCTCGTGCTGT	0.537													T	92158224	C	T	92158224	3	4	161	1	0	0	0	0	1	0	0	0	2410	739	26	2	99	2	C7orf64	7	92158224	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4751106	92158224	66980439	310	88362											
SAMD9L	219285	broad.mit.edu	37	chr7	92761615	92761615	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaccatatgttttttggAtaattcattttctttgtgga	7	5	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:92761615A>T	uc003umh.1	-	5	4886	c.3670T>A	c.(3670-3672)TCC>ACC	p.S1224T	SAMD9L_uc003umj.1_Missense_Mutation_p.S1224T|SAMD9L_uc003umi.1_Missense_Mutation_p.S1224T|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1224T|SAMD9L_uc003umk.1_Missense_Mutation_p.S1224T|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1224T|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1224T|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1224										ovary(4)	4	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)			TGTTTTTTGGATAATTCATTT	0.378													T	92761615	A	T	92761615	3	4	161	1	0	0	0	0	1	0	0	0	13827	333	12	5	1088	5	SAMD9L	7	92761615	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	603391	92761615	66377048	311	88363											
PDK4	5166	broad.mit.edu	37	chr7	95216783	95216783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttggtgcagtggagtatgTataactaaagaggcggtcaa	14	5	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:95216783T>G	uc003uoa.2	-	9	1248	c.928A>C	c.(928-930)ACA>CCA	p.T310P	PDK4_uc003unz.2_Missense_Mutation_p.T98P	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4 precursor	310	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				0	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)			GTGGAGTATGTATAACTAAAG	0.398													G	95216783	T	G	95216783	3	3	161	1	0	0	0	0	1	0	0	0	11678	1638	57	5	319	5	PDK4	7	95216783	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2455168	95216783	63921880	312	88364											
NPTX2	4885	broad.mit.edu	37	chr7	98256498	98256498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcagctgcccctgtttGtcagtgacggcaagtggcac	13	12	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:98256498G>A	uc003upl.2	+	4	1087	c.910G>A	c.(910-912)GTC>ATC	p.V304I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	304	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	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)			GCCCCTGTTTGTCAGTGACGG	0.622													A	98256498	G	A	98256498	3	1	161	1	0	0	0	0	1	0	0	0	10603	1377	48	4	924	4	NPTX2	7	98256498	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3039715	98256498	60882165	313	88365											
TRRAP	8295	broad.mit.edu	37	chr7	98569562	98569562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctggacactctccgagaGgtgaaggtctgtacgcagct	12	10	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:98569562G>T	uc003upp.2	+	52	8021	c.7812G>T	c.(7810-7812)GAG>GAT	p.E2604D	TRRAP_uc011kis.1_Missense_Mutation_p.E2586D|TRRAP_uc003upr.2_Missense_Mutation_p.E2303D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2604					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			CTCTCCGAGAGGTGAAGGTCT	0.468													T	98569562	G	T	98569562	3	4	161	1	0	0	0	0	1	0	0	0	16598	991	35	5	7956	5	TRRAP	7	98569562	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	313064	98569562	60569101	314	88366											
SLC12A9	56996	broad.mit.edu	37	chr7	100452360	100452361	+	Frame_Shift_Ins	INS	-	-	G													ccaccaatggagccgtgcagINSgggggcggagcctactgtat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:100452359_100452360A>AG	uc003uwp.3	+	2	441_442	c.299_300A>AG	c.(298-300)cagfs	p.Q100fs	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.3_Intron|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	100						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)					GGAGCCGTGCAGGGGGGCGGAG	0.614													G	100452361	-	G	100452360	7	5	161	1	0	1	1	0	0	0	0	0	14390	991	35	0	306	0	SLC12A9	7	100452360	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1882798	100452360	58686303	315	88367											
CDHR3	222256	broad.mit.edu	37	chr7	105673129	105673129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggcttaccccaaaccaCacccaggaaagtaaacgggg	10	13	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:105673129C>T	uc003vdl.3	+	19	2752	c.2644C>T	c.(2644-2646)CAC>TAC	p.H882Y	CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Missense_Mutation_p.H869Y|CDHR3_uc011klt.1_Missense_Mutation_p.H794Y|CDHR3_uc003vdn.2_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	882	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCCCAAACCACACCCAGGAAA	0.547													T	105673129	C	T	105673129	3	4	161	1	0	0	0	0	1	0	0	0	3120	478	17	4	2718	4	CDHR3	7	105673129	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5220769	105673129	53465534	316	88368											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs149757187		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:114269973A>G	uc003vhb.2	+	5	884	c.510A>G	c.(508-510)CAA>CAG	p.Q170Q	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q195Q|FOXP2_uc003vha.2_Silent_p.Q78Q|FOXP2_uc011kmu.1_Silent_p.Q187Q|FOXP2_uc011kmv.1_Silent_p.Q170Q|FOXP2_uc010ljz.1_Silent_p.Q78Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q170Q|FOXP2_uc003vgx.2_Silent_p.Q170Q|FOXP2_uc003vhd.2_Silent_p.Q170Q|FOXP2_uc003vhc.2_Silent_p.Q195Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	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			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						agcagcagcaacaacaacaac	0.164													G	114269973	A	G	114269973	2	3	161	1	0	0	0	0	0	0	0	1	6027	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	8596844	114269973	44868690	317	88369											
FOXP2	93986	broad.mit.edu	37	chr7	114303520	114303521	+	Frame_Shift_Ins	INS	-	-	A													tcagaagtccaaccttagtaINSaaaaatatacctaccagttt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:114303519_114303520T>TA	uc003vhb.3	+	14	2158_2159	c.1784_1785T>TA	c.(1783-1785)gtafs	p.V595fs	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Frame_Shift_Ins_p.V620fs|FOXP2_uc003vha.3_Frame_Shift_Ins_p.V503fs|FOXP2_uc011kmv.2_Frame_Shift_Ins_p.V594fs|FOXP2_uc011kmu.2_Frame_Shift_Ins_p.V612fs|FOXP2_uc010ljz.2_Frame_Shift_Ins_p.V410fs|FOXP2_uc003vhe.1_Frame_Shift_Ins_p.V165fs	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	595					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	DNA bending activity|chromatin binding|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			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						CCAACCTTAGTAAAAAATATAC	0.322													A	114303521	-	A	114303520	7	5	161	1	0	1	1	0	0	0	0	0	6027	349	13	0	2006	0	FOXP2	7	114303520	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	33547	114303520	44835143	318	88370											
WNT16	51384	broad.mit.edu	37	chr7	120979292	120979292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggccgaggttacaacAcccatgtggtcaggcacgtg	14	11	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:120979292A>G	uc003vjw.2	+	4	1248	c.991A>G	c.(991-993)ACC>GCC	p.T331A	WNT16_uc003vjv.2_Missense_Mutation_p.T321A|WNT16_uc010lkl.2_Missense_Mutation_p.T115A	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	331					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			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					AGGTTACAACACCCATGTGGT	0.532													G	120979292	A	G	120979292	3	3	161	1	0	0	0	0	1	0	0	0	17382	159	6	3	1074	3	WNT16	7	120979292	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	6675772	120979292	38159371	319	88371											
GPR37	2861	broad.mit.edu	37	chr7	124404474	124404474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaccctggagtttcccgGctctccttggccagtaaaaa	11	12	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:124404474G>A	uc003vli.2	-	1	1208	c.557C>T	c.(556-558)GCC>GTC	p.A186V		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	186	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGTTTCCCGGCTCTCCTTGG	0.637													A	124404474	G	A	124404474	3	1	161	1	0	0	0	0	1	0	0	0	6691	1203	42	2	1292	2	GPR37	7	124404474	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3425182	124404474	34734189	320	88372											
PAX4	5078	broad.mit.edu	37	chr7	127251170	127251170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagagcagggcctgagagCcactaagactggccaggtga	15	11	0	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:127251170C>T	uc010lld.1	-	9	1186	c.980G>A	c.(979-981)GGC>GAC	p.G327D	PAX4_uc003vmf.2_Missense_Mutation_p.G325D|PAX4_uc003vmg.1_Intron	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	339	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCCTGAGAGCCACTAAGACT	0.582													T	127251170	C	T	127251170	3	4	161	1	0	0	0	0	1	0	0	0	11481	739	26	2	55	2	PAX4	7	127251170	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2846696	127251170	31887493	321	88373											
CPA4	51200	broad.mit.edu	37	chr7	129950677	129950677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtaccatggaccccacGccaattcggaagtggaggtg	13	10	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:129950677G>A	uc003vpr.2	+	9	891	c.844G>A	c.(844-846)GCC>ACC	p.A282T	CPA4_uc011kpd.1_Missense_Mutation_p.A249T|CPA4_uc011kpe.1_Missense_Mutation_p.A178T	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	282					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TGGACCCCACGCCAATTCGGA	0.493													A	129950677	G	A	129950677	3	1	161	1	0	0	0	0	1	0	0	0	3792	1087	38	1	878	1	CPA4	7	129950677	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2699507	129950677	29187986	322	88374											
C7orf49	78996	broad.mit.edu	37	chr7	134851370	134851370	+	Frame_Shift_Del	DEL	A	A	-													cacagtttatgccctagctgAaaaagatctcccggacgtat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:134851370delA	uc003vsl.2	-	4	734	c.467delT	c.(466-468)TTCfs	p.F156fs	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Frame_Shift_Del_p.F127fs|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Frame_Shift_Del_p.F155fs|C7orf49_uc003vso.2_Frame_Shift_Del_p.F101fs	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	156						cytoplasm				large_intestine(1)|ovary(1)	2						GCCCTAGCTGAAAAAGATCTC	0.607													-	134851370	A	-	134851370	7	5	161	1	0	1	0	1	0	0	0	0	2398	246	9	0	10	0	C7orf49	7	134851370	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	4900693	134851370	24287293	323	88375											
ARHGEF5	7984	broad.mit.edu	37	chr7	144075858	144075858	+	Frame_Shift_Del	DEL	C	C	-													actcttctcttccaaagactCcccccaggtacagtgccttc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:144075857_144075857TC>T	uc003wel.3	+	13	4652	c.4534_4534TC>T	c.(4534-4536)tccfs	p.S1512fs	ARHGEF5_uc003wem.3_Frame_Shift_Del_p.S313fs	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1512					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAAAGACTCCCCCCAGGT	0.557													-	144075858	C	-	144075858	7	5	161	1	0	1	0	1	0	0	0	0	909	855	30	0	4585	0	ARHGEF5	7	144075858	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	9224488	144075858	15062805	324	88376											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092837	147092837	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaagccgggaagtttcgcGaatgtcagcattgacatgtg	14	7	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:147092837G>A	uc003weu.1	+	10	2151	c.1635G>A	c.(1633-1635)GCG>GCA	p.A545A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	545	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			GAAGTTTCGCGAATGTCAGCA	0.438										HNSCC(39;0.1)			A	147092837	G	A	147092837	2	1	161	1	0	0	0	0	0	0	0	1	3647	1045	37	1		1	CNTNAP2	7	147092837	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3016979	147092837	12045826	325	88377											
ZNF786	136051	broad.mit.edu	37	chr7	148768490	148768490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgacggaagttcctgccAcacttggcacaccggaaagg	11	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:148768490A>C	uc003wfh.2	-	4	1511	c.1374T>G	c.(1372-1374)TGT>TGG	p.C458W	ZNF786_uc011kuk.1_Missense_Mutation_p.C421W|ZNF786_uc003wfi.2_Missense_Mutation_p.C372W	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	458	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGTTCCTGCCACACTTGGCAC	0.612													C	148768490	A	C	148768490	3	2	161	1	0	0	0	0	1	0	0	0	18155	157	6	5	978	5	ZNF786	7	148768490	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1675653	148768490	10370173	326	88378											
KRBA1	84626	broad.mit.edu	37	chr7	149430566	149430566	+	Frame_Shift_Del	DEL	C	C	-													gtgaatcggctggggaggcgCccccaaggccctgggccaat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:149430566delC	uc003wfz.2	+	18	2922	c.2523delC	c.(2521-2523)CGCfs	p.R841fs	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Frame_Shift_Del_p.R448fs	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	841										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGGAGGCGCCCCCAAGGCC	0.672													-	149430566	C	-	149430566	7	5	161	1	0	1	0	1	0	0	0	0	8439	726	26	0	2584	0	KRBA1	7	149430566	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	662076	149430566	9708097	327	88379											
SSPO	23145	broad.mit.edu	37	chr7	149490473	149490473	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggaacgctggcatgggggCccctgcagggtgtgccagtg	20	10	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:149490473C>G	uc010lpk.2	+	40	5949	c.5949C>G	c.(5947-5949)GGC>GGG	p.G1983G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1983	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATGGGGGCCCCTGCAGGG	0.677													G	149490473	C	G	149490473	2	3	161	1	0	0	0	0	0	0	0	1	15188	726	26	5		5	SSPO	7	149490473	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	59907	149490473	9648190	328	88380											
REPIN1	29803	broad.mit.edu	37	chr7	150069144	150069144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccccgagtgcgggaagCgctttaccaataagccctat	11	12	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:150069144C>T	uc010lpq.1	+	4	1303	c.814C>T	c.(814-816)CGC>TGC	p.R272C	REPIN1_uc003whd.2_Missense_Mutation_p.R261C|REPIN1_uc010lpr.1_Missense_Mutation_p.R329C|REPIN1_uc003whc.2_Missense_Mutation_p.R272C|REPIN1_uc003whe.2_Missense_Mutation_p.R272C	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	272	C2H2-type 7.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GTGCGGGAAGCGCTTTACCAA	0.657													T	150069144	C	T	150069144	3	4	161	1	0	0	0	0	1	0	0	0	13227	768	27	1	991	1	REPIN1	7	150069144	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	578671	150069144	9069519	329	88381											
MLL3	58508	broad.mit.edu	37	chr7	151845190	151845190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgacaaacactgggcGcccatccttctcctcaatgg	8	15	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:151845190G>A	uc003wla.2	-	52	14041	c.13822C>T	c.(13822-13824)CGC>TGC	p.R4608C	MLL3_uc003wkz.2_Missense_Mutation_p.R3726C|MLL3_uc003wkx.2_Missense_Mutation_p.R766C|MLL3_uc003wky.2_Missense_Mutation_p.R2172C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4608	FYR C-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AACACTGGGCGCCCATCCTTC	0.542			N		medulloblastoma								A	151845190	G	A	151845190	3	1	161	1	0	0	0	0	1	0	0	0	9622	1087	38	1	945	1	MLL3	7	151845190	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1776046	151845190	7293473	330	88382											
MLL3	58508	broad.mit.edu	37	chr7	151874092	151874093	+	Frame_Shift_Ins	INS	-	-	T													acctcattggtaacagtggaINSttttttctgtggtgaatgtt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:151874092_151874093insT	uc003wla.2	-	38	8664_8665	c.8445_8446insA	c.(8443-8448)AAATCCfs	p.K2815fs	MLL3_uc003wkz.2_Frame_Shift_Ins_p.K1876fs|MLL3_uc003wky.2_Frame_Shift_Ins_p.K324fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2815_2816					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTAACAGTGGATTTTTTCTGTG	0.322			N		medulloblastoma								T	151874093	-	T	151874092	7	5	161	1	0	1	1	0	0	0	0	0	9622	333	12	0	6377	0	MLL3	7	151874092	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	28902	151874092	7264571	331	88383	433	2									
MLL3	58508	broad.mit.edu	37	chr7	151874093	151874094	+	Frame_Shift_Ins	INS	-	-	T													cctcattggtaacagtggatINStttttctgtggtgaatgttt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:151874092_151874093A>AT	uc003wla.3	-	37	8664_8665	c.8445_8446T>AT	c.(8443-8448)aaatccfs	p.K2815fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.K1876fs|MLL3_uc003wky.3_Frame_Shift_Ins_p.K324fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2815					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTAACAGTGGATTTTTTCTGTG	0.322			N		medulloblastoma								T	151874094	-	T	151874093	7	5	161	1	0	1	1	0	0	0	0	0	9622	1490	52	0	6378	0	MLL3	7	151874093	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	151874093	7264570	332	88384	433	2									
MYOM2	9172	broad.mit.edu	37	chr8	2026941	2026941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggcagtgaacagtgcGggcatcagccgaccctccag	15	12	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:2026941G>A	uc003wpx.3	+	12	1527	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	463	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		TGAACAGTGCGGGCATCAGCC	0.537													A	2026941	G	A	2026941	2	1	161	1	0	0	0	0	0	0	0	1	10092	1103	39	1		1	MYOM2	8	2026941	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		2026941	144337081	333	88385											
MSR1	4481	broad.mit.edu	37	chr8	16012628	16012628	+	Frame_Shift_Del	DEL	T	T	-													ccagtgggacctcgatctccTttttcacccgggggtccagg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:16012627_16012627CT>C	uc010lsu.3	-	5	962	c.898_898AG>G	c.(898-900)ggafs	p.G300fs	MSR1_uc003wwz.3_Frame_Shift_Del_p.G282fs|MSR1_uc003wxa.3_Frame_Shift_Del_p.G282fs|MSR1_uc003wxb.3_Frame_Shift_Del_p.G282fs|MSR1_uc011kxz.2_Frame_Shift_Del_p.G56fs	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	282	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G300C(1)		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)		CCTCGATCTCCTTTTTCACCC	0.403													-	16012628	T	-	16012628	7	5	161	1	0	1	0	1	0	0	0	0	9886	1606	56	0	580	0	MSR1	8	16012628	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	13985687	16012628	130351394	334	88386											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19362752	19362752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaaggacggtgattgggGctgttctctgcaggactgtt	16	6	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:19362752G>A	uc011kyn.1	-	4	1658	c.594C>T	c.(592-594)AGC>AGT	p.S198S	CSGALNACT1_uc011kyo.1_Silent_p.S198S|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.S197S|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	198	Lumenal (Potential).				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			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		GGTGATTGGGGCTGTTCTCTG	0.532													A	19362752	G	A	19362752	2	1	161	1	0	0	0	0	0	0	0	1	3938	1194	42	2		2	CSGALNACT1	8	19362752	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3350124	19362752	127001270	335	88387											
FAM160B2	64760	broad.mit.edu	37	chr8	21959324	21959324	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgagggccacttcctcCgagtgctgtttgaccgcatg	11	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:21959324C>T	uc011kyx.1	+	14	1864	c.1813C>T	c.(1813-1815)CGA>TGA	p.R605*	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	605											0						CCACTTCCTCCGAGTGCTGTT	0.642													T	21959324	C	T	21959324	4	4	161	1	0	0	0	0	0	1	0	0	5471	644	23	1	1666	1	FAM160B2	8	21959324	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2596572	21959324	124404698	336	88388											
LGI3	203190	broad.mit.edu	37	chr8	22006416	22006416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggtaaatgtaagagcCgccaaacagctgggccacga	12	11	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:22006416C>T	uc003xav.2	-	8	1193	c.904G>A	c.(904-906)GGC>AGC	p.G302S	LGI3_uc010ltu.2_Missense_Mutation_p.G278S	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	302	EAR 2.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ATGTAAGAGCCGCCAAACAGC	0.607													T	22006416	C	T	22006416	3	4	161	1	0	0	0	0	1	0	0	0	8753	652	23	1	746	1	LGI3	8	22006416	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	47092	22006416	124357606	337	88389											
ENTPD4	9583	broad.mit.edu	37	chr8	23301979	23301979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatcacctttcggggaGgattctcattccagccgtgc	13	11	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:23301979G>T	uc003xdl.2	-	5	717	c.553C>A	c.(553-555)CTC>ATC	p.L185I	ENTPD4_uc011kzu.1_Missense_Mutation_p.L185I|ENTPD4_uc003xdm.2_Missense_Mutation_p.L185I|ENTPD4_uc011kzv.1_Missense_Mutation_p.L185I|ENTPD4_uc011kzw.1_Missense_Mutation_p.L151I	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	185	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTTTCGGGGAGGATTCTCATT	0.537													T	23301979	G	T	23301979	3	4	161	1	0	0	0	0	1	0	0	0	5141	1000	35	5	1333	5	ENTPD4	8	23301979	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1295563	23301979	123062043	338	88390											
EBF2	64641	broad.mit.edu	37	chr8	25899691	25899691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcatagagcgccaggaCgaagtgaaagaagttggatt	13	7	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:25899691C>T	uc003xes.1	-	2	225	c.208G>A	c.(208-210)GTC>ATC	p.V70I	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.V70I	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	70					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		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)		AGCGCCAGGACGAAGTGAAAG	0.582													T	25899691	C	T	25899691	3	4	161	1	0	0	0	0	1	0	0	0	4881	536	19	1	1579	1	EBF2	8	25899691	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2597712	25899691	120464331	339	88391											
STMN4	81551	broad.mit.edu	37	chr8	27094411	27094411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttccgcacctcctcGgcgtgcttgtcctggaaagg	11	12	0	0	rs73563904	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:27094411G>A	uc003xfk.2	-	6	636	c.522C>T	c.(520-522)GCC>GCT	p.A174A	STMN4_uc003xfj.2_Silent_p.A201A|STMN4_uc011lai.1_3'UTR|STMN4_uc011laj.1_3'UTR			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	174	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GCACCTCCTCGGCGTGCTTGT	0.572													A	27094411	G	A	27094411	2	1	161	1	0	0	0	0	0	0	0	1	15310	1103	39	1		1	STMN4	8	27094411	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1194720	27094411	119269611	340	88392											
SCARA5	286133	broad.mit.edu	37	chr8	27824038	27824038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtacagcagatgcttGcccgccgtttgtgacatgga	14	10	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:27824038G>C	uc003xgj.2	-	3	574	c.134C>G	c.(133-135)GCA>GGA	p.A45G	SCARA5_uc010luz.2_Missense_Mutation_p.A45G|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Missense_Mutation_p.A45G	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	45	Cytoplasmic (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCAGATGCTTGCCCGCCGTTT	0.512													C	27824038	G	C	27824038	3	2	161	1	0	0	0	0	1	0	0	0	13880	1319	46	5	1381	5	SCARA5	8	27824038	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	729627	27824038	118539984	341	88393											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205208	38205209	+	Frame_Shift_Del	DEL	AT	AT	-													acaattccctgccattctggAtagttttggttatttttagt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:38205207_38205208GAT>G	uc003xli.3	-	1	1000_1001	c.482_483ATC>C	c.(481-483)atcfs	p.I161fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.I161fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.I161fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.I161fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	161					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)			TGCCATTCTGGATAGTTTTGGT	0.436			T	NUP98	AML								-	38205209	AT	-	38205208	7	5	161	1	0	1	0	1	0	0	0	0	17360	333	12	0	4010	0	WHSC1L1	8	38205208	Frame_Shift_Del	DEL	AT	TCGA-CD-A4MJ-01A-11D-A25D-08	10381170	38205208	108158814	342	88394											
FAM110B	90362	broad.mit.edu	37	chr8	59058957	59058957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggagaggctggaggcCgacaaggccaagtacgtcaa	16	10	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:59058957C>T	uc003xtj.1	+	5	1048	c.168C>T	c.(166-168)GCC>GCT	p.A56A		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	56						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGCTGGAGGCCGACAAGGCCA	0.677													T	59058957	C	T	59058957	2	4	161	1	0	0	0	0	0	0	0	1	5397	639	23	1		1	FAM110B	8	59058957	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	20853749	59058957	87305065	343	88395											
BHLHE22	27319	broad.mit.edu	37	chr8	65493706	65493706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctagcctaagcagcctgcCggccggggccgccctttgcc	12	19	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:65493706C>T	uc003xvi.2	+	1	893	c.359C>T	c.(358-360)CCG>CTG	p.P120L	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	120	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGCAGCCTGCCGGCCGGGGCC	0.612													T	65493706	C	T	65493706	3	4	161	1	0	0	0	0	1	0	0	0	1421	652	23	1	361	1	BHLHE22	8	65493706	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6434749	65493706	80870316	344	88396											
PRDM14	63978	broad.mit.edu	37	chr8	70970930	70970930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggatccgaagccggtccCgcttctcaaaggatcgtttg	12	11	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:70970930C>T	uc003xym.2	-	6	1533	c.1331G>A	c.(1330-1332)CGG>CAG	p.R444Q		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	444	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AAGCCGGTCCCGCTTCTCAAA	0.493													T	70970930	C	T	70970930	3	4	161	1	0	0	0	0	1	0	0	0	12455	652	23	1	396	1	PRDM14	8	70970930	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5477224	70970930	75393092	345	88397											
NCOA2	10499	broad.mit.edu	37	chr8	71033565	71033565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccctcctgcttaatcAtatccattccaggcagctgg	7	14	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:71033565A>C	uc003xyn.1	-	22	4517	c.4355T>G	c.(4354-4356)ATG>AGG	p.M1452R	NCOA2_uc011lfb.1_Missense_Mutation_p.M540R	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1452					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGCTTAATCATATCCATTCC	0.448			T	RUNXBP2	AML								C	71033565	A	C	71033565	3	2	161	1	0	0	0	0	1	0	0	0	10229	217	8	5	47	5	NCOA2	8	71033565	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	62635	71033565	75330457	346	88398											
NCOA2	10499	broad.mit.edu	37	chr8	71057031	71057031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgatgtcaagtggtaaAttctggtttggcaataacct	10	5	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:71057031A>G	uc003xyn.1	-	13	2820	c.2658T>C	c.(2656-2658)AAT>AAC	p.N886N	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	886					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAAGTGGTAAATTCTGGTTTG	0.428			T	RUNXBP2	AML								G	71057031	A	G	71057031	2	3	161	1	0	0	0	0	0	0	0	1	10229	98	4	3		3	NCOA2	8	71057031	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	23466	71057031	75306991	347	88399											
LACTB2	51110	broad.mit.edu	37	chr8	71556377	71556377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagaggtcttcaaataccGttgttccttcccctaggatg	8	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:71556377G>A	uc011lfd.1	-	4	607	c.515C>T	c.(514-516)ACG>ATG	p.T172M	LACTB2_uc003xyp.2_Missense_Mutation_p.T172M	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	lactamase, beta 2	172							hydrolase activity|metal ion binding			ovary(1)	1	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)			TTCAAATACCGTTGTTCCTTC	0.348													A	71556377	G	A	71556377	3	1	161	1	0	0	0	0	1	0	0	0	8598	1145	40	1	367	1	LACTB2	8	71556377	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	499346	71556377	74807645	348	88400											
KCNB2	9312	broad.mit.edu	37	chr8	73480329	73480329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtgcactttcgtttggCcaagaacttgattactgggg	12	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:73480329C>T	uc003xzb.2	+	2	948	c.360C>T	c.(358-360)GGC>GGT	p.G120G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	120	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTTCGTTTGGCCAAGAACTTG	0.433													T	73480329	C	T	73480329	2	4	161	1	0	0	0	0	0	0	0	1	8013	726	26	2		2	KCNB2	8	73480329	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1923952	73480329	72883693	349	88401											
ZFHX4	79776	broad.mit.edu	37	chr8	77764978	77764978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcaaaagtggtgaaggcGaaaacactgacaaactagaa	12	6	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:77764978G>A	uc003yav.2	+	10	6073	c.5686G>A	c.(5686-5688)GAA>AAA	p.E1896K	ZFHX4_uc003yau.1_Missense_Mutation_p.E1941K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1896K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1896						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGTGAAGGCGAAAACACTGA	0.383										HNSCC(33;0.089)			A	77764978	G	A	77764978	3	1	161	1	0	0	0	0	1	0	0	0	17632	1059	37	1	5855	1	ZFHX4	8	77764978	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4284649	77764978	68599044	350	88402											
ZFHX4	79776	broad.mit.edu	37	chr8	77767090	77767091	+	Frame_Shift_Ins	INS	-	-	A													tgcccgcgaagtcgggctgaINSaaaaaagggtcgtgcaagtc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:77767089_77767090G>GA	uc003yau.2	+	9	8319_8320	c.7932_7933G>GA	c.(7930-7935)ctgaaafs	p.L2644fs	ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L2599fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2645G(1)|p.R2643R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTCGGGCTGAAAAAAAGGGT	0.515										HNSCC(33;0.089)			A	77767091	-	A	77767090	7	5	161	1	0	1	1	0	0	0	0	0	17632	247	9	0	7967	0	ZFHX4	8	77767090	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	2112	77767090	68596932	351	88403											
SLC7A13	157724	broad.mit.edu	37	chr8	87226664	87226664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcctcagacacatcagggAggcaaatattaaatagtaat	7	7	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:87226664A>G	uc003ydq.1	-	4	1489	c.1391T>C	c.(1390-1392)CTC>CCC	p.L464P	SLC7A13_uc003ydr.1_3'UTR	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	464	Cytoplasmic (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						CACATCAGGGAGGCAAATATT	0.308													G	87226664	A	G	87226664	3	3	161	1	0	0	0	0	1	0	0	0	14695	304	11	3	25	3	SLC7A13	8	87226664	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	9459574	87226664	59137358	352	88404											
WWP1	11059	broad.mit.edu	37	chr8	87454932	87454932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaacaactattgtctGcagataaatccagcatcaac	7	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:87454932G>A	uc003ydt.2	+	18	2203	c.1923G>A	c.(1921-1923)CTG>CTA	p.L641L	WWP1_uc010mai.2_Silent_p.L417L	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	641	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			lung(1)|liver(1)	2						ACTATTGTCTGCAGATAAATC	0.343													A	87454932	G	A	87454932	2	1	161	1	0	0	0	0	0	0	0	1	17412	1306	46	2		2	WWP1	8	87454932	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	228268	87454932	58909090	353	88405											
RUNX1T1	862	broad.mit.edu	37	chr8	92983013	92983013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtgggctttccgctccGcctcagacacggccttctgc	11	16	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:92983013G>A	uc003yfd.2	-	10	1496	c.1412C>T	c.(1411-1413)GCG>GTG	p.A471V	RUNX1T1_uc003yfc.1_Missense_Mutation_p.A444V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A434V|RUNX1T1_uc010mao.2_Missense_Mutation_p.A444V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.A482V|RUNX1T1_uc010man.1_Missense_Mutation_p.A96V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A434V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	471			A -> V (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.A434V(1)		lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTTCCGCTCCGCCTCAGACAC	0.622													A	92983013	G	A	92983013	3	1	161	1	0	0	0	0	1	0	0	0	13747	1087	38	1	410	1	RUNX1T1	8	92983013	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5528081	92983013	53381009	354	88406											
UBR5	51366	broad.mit.edu	37	chr8	103358483	103358483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggcaaataagattcGctggctgtatcatccccatc	7	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:103358483G>A	uc003ykr.1	-	7	750	c.717C>T	c.(715-717)AGC>AGT	p.S239S	UBR5_uc003yks.1_Silent_p.S239S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	239					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			AATAAGATTCGCTGGCTGTAT	0.423													A	103358483	G	A	103358483	2	1	161	1	0	0	0	0	0	0	0	1	16902	1078	38	1		1	UBR5	8	103358483	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	10375470	103358483	43005539	355	88407											
DCAF13	25879	broad.mit.edu	37	chr8	104453816	104453816	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatagccagattcaggaacAgcgcatcatgaaagaagctc	9	10	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:104453816A>C	uc003yln.2	+	10	1953	c.1676A>C	c.(1675-1677)CAG>CCG	p.Q559P	DCAF13_uc003ylo.2_Missense_Mutation_p.Q270P	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	407					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						ATTCAGGAACAGCGCATCATG	0.383													C	104453816	A	C	104453816	3	2	161	1	0	0	0	0	1	0	0	0	4266	188	7	5	1714	5	DCAF13	8	104453816	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1095333	104453816	41910206	356	88408											
RIMS2	9699	broad.mit.edu	37	chr8	104513161	104513161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctggctcccatcccggCggcctctcagccgcctctgc	10	22	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:104513161C>T	uc003ylp.2	+	1	186	c.47C>T	c.(46-48)GCG>GTG	p.A16V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	16					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCATCCCGGCGGCCTCTCAG	0.657										HNSCC(12;0.0054)			T	104513161	C	T	104513161	3	4	161	1	0	0	0	0	1	0	0	0	13368	768	27	1	49	1	RIMS2	8	104513161	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	59345	104513161	41850861	357	88409											
LRP12	29967	broad.mit.edu	37	chr8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgtaaaacgtacccagcGtagcccctgagtcatacgac	8	12	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:105503269G>A	uc003yma.2	-	7	2307	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	LRP12_uc003ymb.2_Missense_Mutation_p.R719C|LRP12_uc003ylz.2_Missense_Mutation_p.R144C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	738	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478													A	105503269	G	A	105503269	3	1	161	1	0	0	0	0	1	0	0	0	8954	1145	40	1	371	1	LRP12	8	105503269	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	990108	105503269	40860753	358	88410											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457588	110457589	+	Frame_Shift_Ins	INS	-	-	C													gaaacctgactgtcagcagcINScccccagtagcatctctatc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:110457587_110457588G>GC	uc003yne.3	+	37	5593_5594	c.5489_5490G>GC	c.(5488-5490)agcfs	p.S1830fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1830					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)			ACTGTCAGCAGCCCCCCAGTAG	0.495										HNSCC(38;0.096)			C	110457589	-	C	110457588	7	5	161	1	0	1	1	0	0	0	0	0	11972	738	26	0	5640	0	PKHD1L1	8	110457588	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	4954319	110457588	35906434	359	88411											
SYBU	55638	broad.mit.edu	37	chr8	110631179	110631179	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgaagccttcatcacTtccagggcaaaagccaatgg	10	11	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:110631179T>G	uc003ynj.3	-	3	482	c.319A>C	c.(319-321)AGT>CGT	p.S107R	SYBU_uc003yni.3_Missense_Mutation_p.S104R|SYBU_uc003ynk.3_5'UTR|SYBU_uc010mco.2_Missense_Mutation_p.S106R|SYBU_uc003ynl.3_Missense_Mutation_p.S106R|SYBU_uc010mcp.2_Missense_Mutation_p.S107R|SYBU_uc010mcq.2_Missense_Mutation_p.S107R|SYBU_uc003yno.3_5'UTR|SYBU_uc010mcr.2_Missense_Mutation_p.S107R|SYBU_uc003ynm.3_Missense_Mutation_p.S106R|SYBU_uc003ynn.3_Missense_Mutation_p.S106R|SYBU_uc010mcs.2_5'UTR|SYBU_uc010mct.2_Missense_Mutation_p.S107R|SYBU_uc010mcu.2_Missense_Mutation_p.S106R|SYBU_uc003ynp.3_Missense_Mutation_p.S39R|SYBU_uc010mcv.2_Missense_Mutation_p.S107R	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	107	Sufficient for interaction with KIF5B.|Ser-rich.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCTTCATCACTTCCAGGGCAA	0.488													G	110631179	T	G	110631179	3	3	161	1	0	0	0	0	1	0	0	0	15424	1609	56	5	1692	5	SYBU	8	110631179	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	173591	110631179	35732843	360	88412											
CSMD3	114788	broad.mit.edu	37	chr8	113332152	113332152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcaaattcatcatcttcCgtcaaaatttcagcattggg	5	9	6	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:113332152C>T	uc003ynu.2	-	46	7383	c.7224G>A	c.(7222-7224)ACG>ACA	p.T2408T	CSMD3_uc003yns.2_Silent_p.T1610T|CSMD3_uc003ynt.2_Silent_p.T2368T|CSMD3_uc011lhx.1_Silent_p.T2304T|CSMD3_uc003ynw.1_Silent_p.T119T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2408	Extracellular (Potential).|Sushi 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CATCATCTTCCGTCAAAATTT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113332152	C	T	113332152	2	4	161	1	0	0	0	0	0	0	0	1	3946	639	23	1		1	CSMD3	8	113332152	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2700973	113332152	33031870	361	88413											
SNTB1	6641	broad.mit.edu	37	chr8	121706031	121706032	+	Frame_Shift_Ins	INS	-	-	G													ggagaaggactgcgatgacgINSgggggtctgaggtgctgccc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:121706030_121706031C>CG	uc010mdg.3	-	1	915_916	c.689_690G>CG	c.(688-690)ccgfs	p.P230fs	SNTB1_uc003ype.3_Frame_Shift_Ins_p.P230fs	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	230	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)			ACTGCGATGACGGGGGGTCTGA	0.584													G	121706032	-	G	121706031	7	5	161	1	0	1	1	0	0	0	0	0	14872	1116	39	0	951	0	SNTB1	8	121706031	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	8373879	121706031	24657991	362	88414											
ZHX2	22882	broad.mit.edu	37	chr8	123964522	123964522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcaaccttgtgcccaagGtccctgtcccactaaatact	5	14	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:123964522G>A	uc003ypk.1	+	3	1339	c.772G>A	c.(772-774)GTC>ATC	p.V258I		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	258	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTGCCCAAGGTCCCTGTCCC	0.507													A	123964522	G	A	123964522	3	1	161	1	0	0	0	0	1	0	0	0	17673	1261	44	4	774	4	ZHX2	8	123964522	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2258491	123964522	22399500	363	88415											
FER1L6	654463	broad.mit.edu	37	chr8	125074167	125074167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagagcttttgggaggagTacccttgtgggcacctacac	14	9	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:125074167T>C	uc003yqw.2	+	25	3428	c.3222T>C	c.(3220-3222)AGT>AGC	p.S1074S	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1074	Cytoplasmic (Potential).|C2 4.					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGGGAGGAGTACCCTTGTGG	0.542													C	125074167	T	C	125074167	2	2	161	1	0	0	0	0	0	0	0	1	5815	1635	57	3		3	FER1L6	8	125074167	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1109645	125074167	21289855	364	88416											
ZFAT	57623	broad.mit.edu	37	chr8	135614974	135614974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggtgaacgagcaatAgtcgcaggcgaacttctctc	12	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:135614974A>G	uc003yup.2	-	6	1163	c.988T>C	c.(988-990)TAT>CAT	p.Y330H	ZFAT_uc003yun.2_Missense_Mutation_p.Y318H|ZFAT_uc003yuo.2_Missense_Mutation_p.Y318H|ZFAT_uc010meh.2_Missense_Mutation_p.Y318H|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.Y318H|ZFAT_uc010mej.2_Missense_Mutation_p.Y268H|ZFAT_uc003yur.2_Missense_Mutation_p.Y318H	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	330	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			AACGAGCAATAGTCGCAGGCG	0.552													G	135614974	A	G	135614974	3	3	161	1	0	0	0	0	1	0	0	0	17629	420	15	3	2787	3	ZFAT	8	135614974	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	10540807	135614974	10749048	365	88417											
FAM135B	51059	broad.mit.edu	37	chr8	139380191	139380191	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttataaaatttatgtagctcTaccgaaaactcaaccgttcc	4	10	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:139380191T>C	uc003yuy.2	-	2	207	c.36A>G	c.(34-36)GTA>GTG	p.V12V	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	12								p.V12L(1)		ovary(7)|skin(2)	9	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)			TATGTAGCTCTACCGAAAACT	0.299										HNSCC(54;0.14)			C	139380191	T	C	139380191	2	2	161	1	0	0	0	0	0	0	0	1	5449	1509	53	3		3	FAM135B	8	139380191	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	3765217	139380191	6983831	366	88418											
SLC45A4	57210	broad.mit.edu	37	chr8	142228357	142228357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgctgccgcttctgcAtgtcgtacaggtcgctcatg	12	14	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:142228357A>G	uc003ywd.1	-	4	1537	c.1229T>C	c.(1228-1230)ATG>ACG	p.M410T	SLC45A4_uc003ywc.1_Missense_Mutation_p.M410T|SLC45A4_uc010meq.1_Missense_Mutation_p.M408T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	461					transport	integral to membrane				ovary(2)	2	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)			CCGCTTCTGCATGTCGTACAG	0.682													G	142228357	A	G	142228357	3	3	161	1	0	0	0	0	1	0	0	0	14643	217	8	3	1187	3	SLC45A4	8	142228357	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2848166	142228357	4135665	367	88419											
PTP4A3	11156	broad.mit.edu	37	chr8	142437061	142437061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgtttgacgatggggCgcccccgcccggcaaggtag	16	14	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:142437061C>T	uc003ywg.1	+	3	555	c.221C>T	c.(220-222)GCG>GTG	p.A74V	PTP4A3_uc003ywh.1_Missense_Mutation_p.A74V|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	74						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	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)			GACGATGGGGCGCCCCCGCCC	0.682													T	142437061	C	T	142437061	3	4	161	1	0	0	0	0	1	0	0	0	12772	768	27	1	231	1	PTP4A3	8	142437061	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	208704	142437061	3926961	368	88420											
ARC	23237	broad.mit.edu	37	chr8	143694938	143694938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtactcctcagagccgCccacctgccgcaagtactcc	8	19	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:143694938C>T	uc003ywn.1	-	1	896	c.695G>A	c.(694-696)GGC>GAC	p.G232D		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	232					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CTCAGAGCCGCCCACCTGCCG	0.637													T	143694938	C	T	143694938	3	4	161	1	0	0	0	0	1	0	0	0	841	739	26	2	499	2	ARC	8	143694938	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1257877	143694938	2669084	369	88421											
LYNX1	66004	broad.mit.edu	37	chr8	143846058	143846058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggtctggcagcaagCgatggatacgtaggggccca	17	9	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:143846058C>T	uc003yxb.2	-	5	988	c.361G>A	c.(361-363)GCT>ACT	p.A121T	LYNX1_uc003yxa.2_Missense_Mutation_p.A87T	NM_023946	NP_076435	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform a	Error:Variant_position_missing_in_Q9BZG9_after_alignment						anchored to membrane|plasma membrane					0	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)					TGGCAGCAAGCGATGGATACG	0.667													T	143846058	C	T	143846058	3	4	161	1	0	0	0	0	1	0	0	0	9108	768	27	1	38	1	LYNX1	8	143846058	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	151120	143846058	2517964	370	88422											
EPPK1	83481	broad.mit.edu	37	chr8	144941539	144941539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctctcccgcagctcctcGttcaccaggcccacatccac	6	21	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:144941539G>A	uc003zaa.1	-	1	5896	c.5883C>T	c.(5881-5883)AAC>AAT	p.N1961N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1961	Plectin 32.|Potential.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			GCAGCTCCTCGTTCACCAGGC	0.657													A	144941539	G	A	144941539	2	1	161	1	0	0	0	0	0	0	0	1	5190	1136	40	1		1	EPPK1	8	144941539	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1095481	144941539	1422483	371	88423											
PLEC	5339	broad.mit.edu	37	chr8	144993140	144993140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgatgatgatcatgcGttccttggtcacccggccgg	13	10	2	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:144993140G>A	uc003zaf.1	-	32	11430	c.11260C>T	c.(11260-11262)CGC>TGC	p.R3754C	PLEC_uc003zab.1_Missense_Mutation_p.R3617C|PLEC_uc003zac.1_Missense_Mutation_p.R3621C|PLEC_uc003zad.2_Missense_Mutation_p.R3617C|PLEC_uc003zae.1_Missense_Mutation_p.R3585C|PLEC_uc003zag.1_Missense_Mutation_p.R3595C|PLEC_uc003zah.2_Missense_Mutation_p.R3603C|PLEC_uc003zaj.2_Missense_Mutation_p.R3644C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3754	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ATGATCATGCGTTCCTTGGTC	0.617													A	144993140	G	A	144993140	3	1	161	1	0	0	0	0	1	0	0	0	12052	1145	40	1	2798	1	PLEC	8	144993140	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	51601	144993140	1370882	372	88424											
OPLAH	26873	broad.mit.edu	37	chr8	145106642	145106642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttaccccggggtacacGgtcaccgacgtcttgccgcc	11	18	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:145106642G>A	uc003zar.3	-	27	3790	c.3708C>T	c.(3706-3708)ACC>ACT	p.T1236T		NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1236							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	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)	CGGGGTACACGGTCACCGACG	0.612													A	145106642	G	A	145106642	2	1	161	1	0	0	0	0	0	0	0	1	10876	1103	39	1		1	OPLAH	8	145106642	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	113502	145106642	1257380	373	88425											
VPS28	51160	broad.mit.edu	37	chr8	145649609	145649609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccgcacctcatccatggCgcggatctccaggcgcagct	10	17	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:145649609C>T	uc003zcr.1	-	7	498	c.445G>A	c.(445-447)GCC>ACC	p.A149T	VPS28_uc003zcs.1_Missense_Mutation_p.A149T|VPS28_uc003zct.1_Missense_Mutation_p.A149T	NM_016208	NP_057292	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 isoform 1	149	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCATCCATGGCGCGGATCTCC	0.682													T	145649609	C	T	145649609	3	4	161	1	0	0	0	0	1	0	0	0	17196	768	27	1	346	1	VPS28	8	145649609	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	542967	145649609	714413	374	88426											
KANK1	23189	broad.mit.edu	37	chr9	730125	730125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagctcccagacatcccagCctgagcaagaagtggggacc	11	13	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:730125C>T	uc003zgl.1	+	8	3422	c.2773C>T	c.(2773-2775)CCT>TCT	p.P925S	KANK1_uc003zgm.2_Missense_Mutation_p.P925S|KANK1_uc003zgn.1_Missense_Mutation_p.P925S|KANK1_uc003zgs.1_Missense_Mutation_p.P767S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	925					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		GACATCCCAGCCTGAGCAAGA	0.517													T	730125	C	T	730125	3	4	161	1	0	0	0	0	1	0	0	0	7976	739	26	2	2783	2	KANK1	9	730125	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08		730125	140483306	375	88427											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18770611	18770611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccccagtgttccagaacGtgtggcgggggtgttcagaa	14	9	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:18770611G>A	uc003zne.3	+	17	2356	c.2229G>A	c.(2227-2229)ACG>ACA	p.T743T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	743						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTCCAGAACGTGTGGCGGGG	0.473													A	18770611	G	A	18770611	2	1	161	1	0	0	0	0	0	0	0	1	274	1132	40	1		1	ADAMTSL1	9	18770611	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	18040486	18770611	122442820	376	88428											
C9orf11	54586	broad.mit.edu	37	chr9	27294316	27294316	+	Frame_Shift_Del	DEL	T	T	-													gtgcctttcacttcttaccgTtttttagagcaaaattcagg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:27294316delT	uc003zql.2	-	3	371	c.287delA	c.(286-288)AACfs	p.N96fs	C9orf11_uc011lnq.1_Frame_Shift_Del_p.N96fs|C9orf11_uc003zqm.2_Frame_Shift_Del_p.N96fs	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Acr formation associated factor isoform 1	96	Vesicular (Potential).					acrosomal membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		CTTCTTACCGTTTTTTAGAGC	0.388													-	27294316	T	-	27294316	7	5	161	1	0	1	0	1	0	0	0	0	2448	1725	60	0	621	0	C9orf11	9	27294316	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	8523705	27294316	113919115	377	88429											
KIAA1161	57462	broad.mit.edu	37	chr9	34372397	34372397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaccataccagtgggccGccgcgtcgcccaagaacatg	11	17	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:34372397G>A	uc003zue.3	-	3	712	c.545C>T	c.(544-546)GCG>GTG	p.A182V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	182	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCAGTGGGCCGCCGCGTCGCC	0.692													A	34372397	G	A	34372397	3	1	161	1	0	0	0	0	1	0	0	0	8211	1087	38	1	1603	1	KIAA1161	9	34372397	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7078081	34372397	106841034	378	88430											
FRMPD1	22844	broad.mit.edu	37	chr9	37729812	37729812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagcagtacagcatctccCggctgcacctgctgcacgaa	10	14	1	1	rs142379512		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:37729812C>T	uc004aag.1	+	8	744	c.700C>T	c.(700-702)CGG>TGG	p.R234W	FRMPD1_uc004aah.1_Missense_Mutation_p.R234W|FRMPD1_uc011lqm.1_Missense_Mutation_p.R56W|FRMPD1_uc011lqn.1_Missense_Mutation_p.R103W	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	234	FERM.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CAGCATCTCCCGGCTGCACCT	0.592													T	37729812	C	T	37729812	3	4	161	1	0	0	0	0	1	0	0	0	6057	643	23	1	726	1	FRMPD1	9	37729812	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3357415	37729812	103483619	379	88431											
TRPM3	80036	broad.mit.edu	37	chr9	73250128	73250128	+	Frame_Shift_Del	DEL	T	T	-													cagtcgagagggttcttaccTttttgacatccctgaccaag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:73250128delT	uc004aid.2	-	12	1875	c.1631delA	c.(1630-1632)AAGfs	p.K544fs	TRPM3_uc004ahu.2_Frame_Shift_Del_p.K374fs|TRPM3_uc004ahv.2_Frame_Shift_Del_p.K356fs|TRPM3_uc004ahw.2_Frame_Shift_Del_p.K416fs|TRPM3_uc004ahx.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004ahy.2_Frame_Shift_Del_p.K416fs|TRPM3_uc004ahz.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004aia.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004aib.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004aic.2_Frame_Shift_Del_p.K544fs	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	569	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGTTCTTACCTTTTTGACATC	0.473													-	73250128	T	-	73250128	7	5	161	1	0	1	0	1	0	0	0	0	16584	1623	56	0	3588	0	TRPM3	9	73250128	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	35520316	73250128	67963303	380	88432											
TMC1	117531	broad.mit.edu	37	chr9	75407203	75407203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgaaaatagcactggaCcacccttttttgttcaccct	5	13	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:75407203C>T	uc004aiz.1	+	17	2041	c.1501C>T	c.(1501-1503)CCA>TCA	p.P501S	TMC1_uc010moz.1_Missense_Mutation_p.P459S|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.P355S|TMC1_uc010mpa.1_Missense_Mutation_p.P355S	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	501	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						TAGCACTGGACCACCCTTTTT	0.448													T	75407203	C	T	75407203	3	4	161	1	0	0	0	0	1	0	0	0	15981	507	18	4	1551	4	TMC1	9	75407203	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2157075	75407203	65806228	381	88433											
VPS13A	23230	broad.mit.edu	37	chr9	79852980	79852980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataattcagaaaaaccccGcctcctgtcttcattggatg	7	11	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:79852980G>A	uc004akr.2	+	18	1918	c.1658G>A	c.(1657-1659)CGC>CAC	p.R553H	VPS13A_uc004akp.3_Missense_Mutation_p.R553H|VPS13A_uc004akq.3_Missense_Mutation_p.R553H|VPS13A_uc004aks.2_Missense_Mutation_p.R553H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	553	TPR 3.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GAAAAACCCCGCCTCCTGTCT	0.328													A	79852980	G	A	79852980	3	1	161	1	0	0	0	0	1	0	0	0	17186	1087	38	1	1728	1	VPS13A	9	79852980	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4445777	79852980	61360451	382	88434											
RASEF	158158	broad.mit.edu	37	chr9	85637257	85637257	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccagaaactcacgtctttCcgtgtcttatgttctgcagc	7	13	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:85637257C>T	uc004amo.1	-	3	924	c.663G>A	c.(661-663)CGG>CGA	p.R221R		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	221	Potential.				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						TCACGTCTTTCCGTGTCTTAT	0.299													T	85637257	C	T	85637257	2	4	161	1	0	0	0	0	0	0	0	1	13068	842	30	4		4	RASEF	9	85637257	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5784277	85637257	55576174	383	88435											
FKTN	2218	broad.mit.edu	37	chr9	108370221	108370221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtataaagaagctcgaGcattctttcaggttagagac	11	6	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:108370221G>T	uc004bcr.2	+	7	985	c.769G>T	c.(769-771)GCA>TCA	p.A257S	FKTN_uc011lvx.1_Missense_Mutation_p.A257S|FKTN_uc004bcs.2_Missense_Mutation_p.A257S|FKTN_uc011lvy.1_Missense_Mutation_p.A257S|FKTN_uc010mtm.2_Missense_Mutation_p.A125S	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	257	Lumenal (Potential).				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(2)|ovary(1)	3						AGAAGCTCGAGCATTCTTTCA	0.358													T	108370221	G	T	108370221	3	4	161	1	0	0	0	0	1	0	0	0	5919	971	34	5	787	5	FKTN	9	108370221	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	22732964	108370221	32843210	384	88436											
CTNNAL1	8727	broad.mit.edu	37	chr9	111753119	111753119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctagtctttccatagttgCgagaacctgcaaaacagata	7	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:111753119C>T	uc004bdo.1	-	4	568	c.526G>A	c.(526-528)GCA>ACA	p.A176T	CTNNAL1_uc010mtt.1_Missense_Mutation_p.A176T|CTNNAL1_uc004bdp.1_Missense_Mutation_p.A176T	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	176					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		TCCATAGTTGCGAGAACCTGC	0.373													T	111753119	C	T	111753119	3	4	161	1	0	0	0	0	1	0	0	0	4015	768	27	1	1742	1	CTNNAL1	9	111753119	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3382898	111753119	29460312	385	88437											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112705051	112705051	+	Frame_Shift_Del	DEL	G	G	-													acatctaccattggcccagaGggggtccatcagaaaggagt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:112705051delG	uc004bei.2	+	7	774	c.582delG	c.(580-582)GAGfs	p.E194fs	PALM2_uc004bef.2_Frame_Shift_Del_p.E196fs|PALM2_uc004beg.2_Frame_Shift_Del_p.E162fs|PALM2_uc004beh.3_Frame_Shift_Del_p.E194fs|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TTGGCCCAGAGGGGGTCCATC	0.443													-	112705051	G	-	112705051	7	5	161	1	0	1	0	1	0	0	0	0	11410	991	35	0		0	PALM2-AKAP2	9	112705051	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	951932	112705051	28508380	386	88438											
DFNB31	25861	broad.mit.edu	37	chr9	117266506	117266506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgggccagggatttgtcGttgacgcgcagaatctggtc	14	11	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:117266506G>A	uc004biz.3	-	1	1225	c.576C>T	c.(574-576)AAC>AAT	p.N192N	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.N192N|DFNB31_uc004bjb.2_Silent_p.N192N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	192	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGGATTTGTCGTTGACGCGCA	0.478													A	117266506	G	A	117266506	2	1	161	1	0	0	0	0	0	0	0	1	4455	1136	40	1		1	DFNB31	9	117266506	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4561455	117266506	23946925	387	88439											
TNC	3371	broad.mit.edu	37	chr9	117826201	117826201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtcctcctgggacggTgaggttctgggctgcctcta	13	13	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:117826201T>C	uc004bjj.3	-	12	3996	c.3634A>G	c.(3634-3636)ACC>GCC	p.T1212A	TNC_uc010mvf.2_Missense_Mutation_p.T1212A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1212	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CCTGGGACGGTGAGGTTCTGG	0.562													C	117826201	T	C	117826201	3	2	161	1	0	0	0	0	1	0	0	0	16267	1696	59	3	3039	3	TNC	9	117826201	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	559695	117826201	23387230	388	88440											
TLR4	7099	broad.mit.edu	37	chr9	120475243	120475243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaatctgctctagagggCctgtgcaatttgaccattga	10	9	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:120475243C>T	uc004bjz.2	+	3	1128	c.837C>T	c.(835-837)GGC>GGT	p.G279G	TLR4_uc004bka.2_Silent_p.G239G|TLR4_uc004bkb.2_Silent_p.G79G	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	279	Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						CTCTAGAGGGCCTGTGCAATT	0.363													T	120475243	C	T	120475243	2	4	161	1	0	0	0	0	0	0	0	1	15950	726	26	2		2	TLR4	9	120475243	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2649042	120475243	20738188	389	88441											
DBC1	1620	broad.mit.edu	37	chr9	122000973	122000973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgctttgcagaaggacGgaactcacagagtccagatt	11	10	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:122000973G>A	uc004bkc.2	-	5	1101	c.645C>T	c.(643-645)TCC>TCT	p.S215S	DBC1_uc004bkd.2_Silent_p.S215S	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	215	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GCAGAAGGACGGAACTCACAG	0.493													A	122000973	G	A	122000973	2	1	161	1	0	0	0	0	0	0	0	1	4247	1103	39	1		1	DBC1	9	122000973	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1525730	122000973	19212458	390	88442											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861043	+	Frame_Shift_Ins	INS	-	-	A													caaggcagaatctgagattaINSaaaaaaacagttctatcatt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:125861041_125861042T>TA	uc011lzh.2	+	22	2915_2916	c.2781_2782T>TA	c.(2779-2784)attaaafs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Ins_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					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						AATCTGAGATTAAAAAAAACAG	0.396													A	125861043	-	A	125861042	7	5	161	1	0	1	1	0	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	3860069	125861042	15352389	391	88443											
PPP2R4	5524	broad.mit.edu	37	chr9	131885404	131885404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagctgaccttcgagtAcagagtctccgaggtaggcc	13	10	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:131885404A>G	uc004bxm.1	+	3	470	c.203A>G	c.(202-204)TAC>TGC	p.Y68C	PPP2R4_uc004bxl.1_Missense_Mutation_p.Y68C|PPP2R4_uc011mbo.1_Missense_Mutation_p.Y68C|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.Y68C|PPP2R4_uc004bxo.1_Missense_Mutation_p.Y68C|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Missense_Mutation_p.Y68C|PPP2R4_uc010mys.1_Missense_Mutation_p.Y33C	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	68					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ACCTTCGAGTACAGAGTCTCC	0.438													G	131885404	A	G	131885404	3	3	161	1	0	0	0	0	1	0	0	0	12391	391	14	3	213	3	PPP2R4	9	131885404	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	6024362	131885404	9328027	392	88444											
ASS1	445	broad.mit.edu	37	chr9	133339541	133339542	+	Frame_Shift_Ins	INS	-	-	C													ctcagctgctactcactggcINScccccagataaaggtaggat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:133339540_133339541G>GC	uc010mza.3	+	5	1142_1143	c.634_635G>GC	c.(634-636)gccfs	p.A212fs	ASS1_uc004bzm.3_Frame_Shift_Ins_p.A136fs|ASS1_uc004bzn.3_Frame_Shift_Ins_p.A136fs	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	136					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|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)	CTACTCACTGGCCCCCCAGATA	0.594													C	133339542	-	C	133339541	7	5	161	1	0	1	1	0	0	0	0	0	1061	739	26	0	421	0	ASS1	9	133339541	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1454137	133339541	7873890	393	88445											
COL5A1	1289	broad.mit.edu	37	chr9	137694781	137694781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagcgtggccaccctggGccccctggaccccccggtga	15	17	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:137694781G>A	uc004cfe.2	+	39	3436	c.3054G>A	c.(3052-3054)GGG>GGA	p.G1018G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1018	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GCCACCCTGGGCCCCCTGGAC	0.617													A	137694781	G	A	137694781	2	1	161	1	0	0	0	0	0	0	0	1	3696	1190	42	2		2	COL5A1	9	137694781	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4355240	137694781	3518650	394	88446											
FCN1	2219	broad.mit.edu	37	chr9	137808227	137808227	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacacctgcctctccctttgGccctggggccccgggcagcc	12	19	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:137808227G>C	uc004cfi.2	-	2	276	c.184C>G	c.(184-186)CCA>GCA	p.P62A		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	62	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCTCCCTTTGGCCCTGGGGCC	0.647													C	137808227	G	C	137808227	3	2	161	1	0	0	0	0	1	0	0	0	5791	1203	42	5	828	5	FCN1	9	137808227	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	113446	137808227	3405204	395	88447											
SEC16A	9919	broad.mit.edu	37	chr9	139350543	139350543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaggtgaaccagccAcgtgggtgcggccaaggact	15	12	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:139350543A>G	uc004chx.2	-	19	5935	c.5626T>C	c.(5626-5628)TGG>CGG	p.W1876R	SEC16A_uc004chs.2_5'Flank|SEC16A_uc004cht.2_5'Flank|SEC16A_uc004chu.2_Missense_Mutation_p.W61R|SEC16A_uc004chv.3_Missense_Mutation_p.W1266R|SEC16A_uc004chw.2_Missense_Mutation_p.W1876R|SEC16A_uc010nbn.2_Missense_Mutation_p.W1876R	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1698					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAACCAGCCACGTGGGTGCG	0.572													G	139350543	A	G	139350543	3	3	161	1	0	0	0	0	1	0	0	0	13986	159	6	3	1503	3	SEC16A	9	139350543	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1542316	139350543	1862888	396	88448											
NPDC1	56654	broad.mit.edu	37	chr9	139935551	139935551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggtccttgggtaggggCggagttgagtgtccagactc	17	8	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:139935551C>T	uc004ckt.2	-	3	583	c.348G>A	c.(346-348)CCG>CCA	p.P116P	NPDC1_uc004ckr.2_Silent_p.P116P|NPDC1_uc004cks.2_Silent_p.P194P|NPDC1_uc004cku.2_Silent_p.P116P	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and	116						integral to membrane					0	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)		TGGGTAGGGGCGGAGTTGAGT	0.672													T	139935551	C	T	139935551	2	4	161	1	0	0	0	0	0	0	0	1	10573	755	27	1		1	NPDC1	9	139935551	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	585008	139935551	1277880	397	88449											
CELF2	10659	broad.mit.edu	37	chr10	11207585	11207585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaactttttgagccttacGgagccgtctaccagatcaac	8	11	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:11207585G>A	uc001iki.3	+	2	282	c.190G>A	c.(190-192)GGA>AGA	p.G64R	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.G64R|CELF2_uc001ikk.2_Missense_Mutation_p.G71R|CELF2_uc001ikl.3_Missense_Mutation_p.G71R|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.G40R|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Missense_Mutation_p.G40R|CELF2_uc001ikp.3_Missense_Mutation_p.G40R|CELF2_uc010qbn.1_Missense_Mutation_p.G48R|CELF2_uc009xiw.1_Missense_Mutation_p.G40R|CELF2_uc010qbo.1_5'UTR|CELF2_uc010qbp.1_5'UTR	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	64	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TGAGCCTTACGGAGCCGTCTA	0.582													A	11207585	G	A	11207585	3	1	161	1	0	0	0	0	1	0	0	0	3216	1117	39	1	274	1	CELF2	10	11207585	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		11207585	124327162	398	88450											
FAM107B	83641	broad.mit.edu	37	chr10	14816403	14816403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattccgattcgcactgCcatttctctctgcatgggtg	9	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:14816403C>T	uc001ina.1	-	1	494	c.260G>A	c.(259-261)GGC>GAC	p.G87D	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						ATTCGCACTGCCATTTCTCTC	0.602													T	14816403	C	T	14816403	3	4	161	1	0	0	0	0	1	0	0	0	5390	739	26	2	680	2	FAM107B	10	14816403	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3608818	14816403	120718344	399	88451											
FXYD4	53828	broad.mit.edu	37	chr10	43869133	43869133	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagcctggagcagatccGtgggctgcagacccccgccc	14	15	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:43869133G>A	uc001jaq.1	+	3	271	c.-61G>A	c.(-63--59)CCGTG>CCATG			NM_173160	NP_775183	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4							integral to membrane					0						GAGCAGATCCGTGGGCTGCAG	0.642													A	43869133	G	A	43869133	1	1	161	1	0	0	0	0	0	0	0	0	6120	1160	40	1		1	FXYD4	10	43869133	Translation_Start_Site	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	29052730	43869133	91665614	400	88452											
EGR2	1959	broad.mit.edu	37	chr10	64573203	64573203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggccacagtagtcacaggCgaagggcttctcaccggtgt	13	12	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:64573203C>T	uc010qim.1	-	3	1349	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	EGR2_uc010qin.1_Missense_Mutation_p.A349T|EGR2_uc001jmi.2_Missense_Mutation_p.A399T|EGR2_uc010qio.1_Missense_Mutation_p.A412T|EGR2_uc009xph.2_Missense_Mutation_p.A399T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	399	C2H2-type 3.				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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGTCACAGGCGAAGGGCTTC	0.587													T	64573203	C	T	64573203	3	4	161	1	0	0	0	0	1	0	0	0	4972	768	27	1	239	1	EGR2	10	64573203	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	20704070	64573203	70961544	401	88453											
EGR2	1959	broad.mit.edu	37	chr10	64573574	64573574	+	Frame_Shift_Del	DEL	C	C	-													cggtcaccccagcactggggCcccccagggtaaagttacgg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:64573574delC	uc010qim.1	-	3	978	c.824delG	c.(823-825)GGCfs	p.G275fs	EGR2_uc010qin.1_Frame_Shift_Del_p.G225fs|EGR2_uc001jmi.2_Frame_Shift_Del_p.G275fs|EGR2_uc010qio.1_Frame_Shift_Del_p.G288fs|EGR2_uc009xph.2_Frame_Shift_Del_p.G275fs	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	275					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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCACTGGGGCCCCCCAGGGT	0.697													-	64573574	C	-	64573574	7	5	161	1	0	1	0	1	0	0	0	0	4972	739	26	0	610	0	EGR2	10	64573574	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	371	64573574	70961173	402	88454											
COL13A1	1305	broad.mit.edu	37	chr10	71690277	71690277	+	Frame_Shift_Del	DEL	A	A	-													gagcccaggagagaagggggAaaaaggggagacaggacaag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:71690277delA	uc001jpr.1	+	28	2155	c.1619delA	c.(1618-1620)GAAfs	p.E540fs	COL13A1_uc001jqj.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jps.1_Frame_Shift_Del_p.E511fs|COL13A1_uc001jpt.1_Frame_Shift_Del_p.E499fs|COL13A1_uc001jpu.1_Frame_Shift_Del_p.E521fs|COL13A1_uc001jpv.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jpx.1_Frame_Shift_Del_p.E518fs|COL13A1_uc001jpw.1_Frame_Shift_Del_p.E487fs|COL13A1_uc001jpy.1_Frame_Shift_Del_p.E478fs|COL13A1_uc001jpz.1_Frame_Shift_Del_p.E483fs|COL13A1_uc001jqa.1_Frame_Shift_Del_p.E480fs|COL13A1_uc001jqc.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jqb.1_Frame_Shift_Del_p.E489fs|COL13A1_uc001jql.2_Frame_Shift_Del_p.E540fs|COL13A1_uc001jqd.1_Frame_Shift_Del_p.E528fs|COL13A1_uc001jqe.1_Frame_Shift_Del_p.E523fs|COL13A1_uc001jqf.1_Frame_Shift_Del_p.E521fs|COL13A1_uc001jqg.1_Frame_Shift_Del_p.E518fs|COL13A1_uc001jqh.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jqi.1_Frame_Shift_Del_p.E540fs|COL13A1_uc010qjf.1_Frame_Shift_Del_p.E330fs	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	540	Extracellular (Potential).|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			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAGAAGGGGGAAAAAGGGGAG	0.637													-	71690277	A	-	71690277	7	5	161	1	0	1	0	1	0	0	0	0	3670	246	9	0	1733	0	COL13A1	10	71690277	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	7116703	71690277	63844470	403	88455											
KIAA1274	27143	broad.mit.edu	37	chr10	72297653	72297653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtttaactactacctTcatgagcaggtggggcctgg	11	10	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:72297653T>C	uc001jrd.3	+	11	1595	c.1314T>C	c.(1312-1314)CTT>CTC	p.L438L	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	438										ovary(2)|central_nervous_system(1)	3						ACTACTACCTTCATGAGCAGG	0.632													C	72297653	T	C	72297653	2	2	161	1	0	0	0	0	0	0	0	1	8220	1770	62	3		3	KIAA1274	10	72297653	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	607376	72297653	63237094	404	88456											
GRID1	2894	broad.mit.edu	37	chr10	87966288	87966288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgaccctcccgggttgCgctggacaaagaggtgtggg	18	10	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:87966288C>T	uc001kdl.1	-	3	454	c.353G>A	c.(352-354)CGC>CAC	p.R118H	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	118	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TCCCGGGTTGCGCTGGACAAA	0.627										Multiple Myeloma(13;0.14)			T	87966288	C	T	87966288	3	4	161	1	0	0	0	0	1	0	0	0	6771	768	27	1	2732	1	GRID1	10	87966288	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	15668635	87966288	47568459	405	88457											
WAPAL	23063	broad.mit.edu	37	chr10	88259565	88259565	+	Frame_Shift_Del	DEL	T	T	-													tgatggagctgttttagttcTttttttgcttgtctttcttt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:88259565delT	uc001kdo.2	-	3	1877	c.1435delA	c.(1435-1437)AGAfs	p.R479fs	WAPAL_uc001kdn.2_Frame_Shift_Del_p.R522fs|WAPAL_uc009xsw.2_Frame_Shift_Del_p.R479fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	479	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			ovary(1)	1						GTTTTAGTTCTTTTTTTGCTT	0.383													-	88259565	T	-	88259565	7	5	161	1	0	1	0	1	0	0	0	0	17245	1617	56	0	2205	0	WAPAL	10	88259565	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	293277	88259565	47275182	406	88458											
PAPSS2	9060	broad.mit.edu	37	chr10	89487102	89487102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagaggataagacacgGctggaagggtgcagcaagtt	15	7	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:89487102G>A	uc001kex.2	+	8	1190	c.927G>A	c.(925-927)CGG>CGA	p.R309R	PAPSS2_uc001kew.2_Silent_p.R314R|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	309	Adenylyl-sulfate kinase.				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)|skin(1)	2		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)		ATAAGACACGGCTGGAAGGGT	0.493													A	89487102	G	A	89487102	2	1	161	1	0	0	0	0	0	0	0	1	11435	1190	42	2		2	PAPSS2	10	89487102	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1227537	89487102	46047645	407	88459											
KIF20B	9585	broad.mit.edu	37	chr10	91503648	91503648	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaccagtgttctcaggaAttagatatgaaacagcgaac	8	7	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:91503648A>T	uc001kgs.1	+	22	4071	c.3999A>T	c.(3997-3999)GAA>GAT	p.E1333D	KIF20B_uc001kgr.1_Missense_Mutation_p.E1293D|KIF20B_uc001kgt.1_Missense_Mutation_p.E544D|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1333					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			ovary(1)|pancreas(1)|skin(1)	3						GTTCTCAGGAATTAGATATGA	0.299													T	91503648	A	T	91503648	3	4	161	1	0	0	0	0	1	0	0	0	8287	98	4	5	3961	5	KIF20B	10	91503648	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	2016546	91503648	44031099	408	88460											
PAX2	5076	broad.mit.edu	37	chr10	102587338	102587338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgccccccggggctccGcccctgccgctgctgccgct	13	22	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:102587338G>A	uc001krk.3	+	12	1744	c.1194G>A	c.(1192-1194)CCG>CCA	p.P398P	PAX2_uc001krl.3_3'UTR|PAX2_uc001krm.3_Missense_Mutation_p.A405T|PAX2_uc001kro.3_Missense_Mutation_p.A382T|PAX2_uc001krn.3_Silent_p.P375P|PAX2_uc010qps.1_Missense_Mutation_p.A382T	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	Error:Variant_position_missing_in_Q02962_after_alignment					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				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCGGGGCTCCGCCCCTGCCGC	0.592													A	102587338	G	A	102587338	2	1	161	1	0	0	0	0	0	0	0	1	11479	1087	38	1		1	PAX2	10	102587338	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	11083690	102587338	32947409	409	88461											
SEMA4G	57715	broad.mit.edu	37	chr10	102743278	102743278	+	Frame_Shift_Del	DEL	A	A	-													ctatggctgctatgccgaggAaaatggcctccgcaccctgc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:102743278delA	uc001krw.1	+	14	2306	c.1922delA	c.(1921-1923)GAAfs	p.E641fs	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	636	Extracellular (Potential).|Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TATGCCGAGGAAAATGGCCTC	0.637													-	102743278	A	-	102743278	7	5	161	1	0	1	0	1	0	0	0	0	14036	246	9	0	1976	0	SEMA4G	10	102743278	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	155940	102743278	32791469	410	88462											
BTRC	8945	broad.mit.edu	37	chr10	103190192	103190192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtataacccagggactggcGcactcacagctttccaggta	10	12	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:103190192G>A	uc001kta.2	+	2	252	c.139G>A	c.(139-141)GCA>ACA	p.A47T	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Missense_Mutation_p.A47T	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGGGACTGGCGCACTCACAGC	0.537													A	103190192	G	A	103190192	3	1	161	1	0	0	0	0	1	0	0	0	1569	1087	38	1	145	1	BTRC	10	103190192	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	446914	103190192	32344555	411	88463											
TRIM8	81603	broad.mit.edu	37	chr10	104414459	104414459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagcgagagcaggacaTtgaggaccagctgtacaaac	15	8	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:104414459T>C	uc001kvz.2	+	2	743	c.620T>C	c.(619-621)ATT>ACT	p.I207T		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	207	Potential.					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAGCAGGACATTGAGGACCAG	0.602													C	104414459	T	C	104414459	3	2	161	1	0	0	0	0	1	0	0	0	16545	1493	52	3	626	3	TRIM8	10	104414459	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1224267	104414459	31120288	412	88464											
XPNPEP1	7511	broad.mit.edu	37	chr10	111667488	111667488	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatgatgtaggcctggatCggttcggtcacatactcaga	14	8	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:111667488C>T	uc001kyp.1	-	3	218	c.78G>A	c.(76-78)CCG>CCA	p.P26P	XPNPEP1_uc009xxt.1_Silent_p.P69P|XPNPEP1_uc001kyq.1_5'UTR|XPNPEP1_uc010qrb.1_Silent_p.P69P	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	26					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AGGCCTGGATCGGTTCGGTCA	0.522													T	111667488	C	T	111667488	2	4	161	1	0	0	0	0	0	0	0	1	17439	871	31	1		1	XPNPEP1	10	111667488	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	7253029	111667488	23867259	413	88465											
TECTB	6975	broad.mit.edu	37	chr10	114046093	114046093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagtggccactgttcacGtgaagaacgggagcatgggc	15	9	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:114046093G>A	uc001kzr.1	+	4	427	c.427G>A	c.(427-429)GTG>ATG	p.V143M		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	143	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CACTGTTCACGTGAAGAACGG	0.502													A	114046093	G	A	114046093	3	1	161	1	0	0	0	0	1	0	0	0	15745	1145	40	1	441	1	TECTB	10	114046093	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2378605	114046093	21488654	414	88466											
ACSL5	51703	broad.mit.edu	37	chr10	114181725	114181725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgttggggtgcccctgGcttgcaattacgtgaagctg	14	10	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:114181725G>A	uc001kzs.2	+	16	1549	c.1408G>A	c.(1408-1410)GCT>ACT	p.A470T	ACSL5_uc001kzt.2_Missense_Mutation_p.A470T|ACSL5_uc001kzu.2_Missense_Mutation_p.A526T|ACSL5_uc009xxz.2_Missense_Mutation_p.A470T|ACSL5_uc010qrj.1_Missense_Mutation_p.A252T	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	470	Cytoplasmic (Potential).				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			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGTGCCCCTGGCTTGCAATTA	0.453													A	114181725	G	A	114181725	3	1	161	1	0	0	0	0	1	0	0	0	180	1203	42	2	1638	2	ACSL5	10	114181725	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	135632	114181725	21353022	415	88467											
FAM160B1	57700	broad.mit.edu	37	chr10	116595908	116595908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattagactctgtggtgaagTcctagcaacaccaacagaaa	8	9	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:116595908T>C	uc001lcb.2	+	5	760	c.425T>C	c.(424-426)GTC>GCC	p.V142A	FAM160B1_uc001lcc.2_Missense_Mutation_p.V142A	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	142										lung(1)	1						TGTGGTGAAGTCCTAGCAACA	0.338													C	116595908	T	C	116595908	3	2	161	1	0	0	0	0	1	0	0	0	5470	1667	58	3	443	3	FAM160B1	10	116595908	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2414183	116595908	18938839	416	88468											
VAX1	11023	broad.mit.edu	37	chr10	118896070	118896070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaactccatctccagCcgatagagctgctccgcggt	11	15	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:118896070C>T	uc009xyx.2	-	2	587	c.342G>A	c.(340-342)CGG>CGA	p.R114R	VAX1_uc001ldb.1_Silent_p.R114R	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	114	Homeobox.					nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		CCATCTCCAGCCGATAGAGCT	0.657													T	118896070	C	T	118896070	2	4	161	1	0	0	0	0	0	0	0	1	17131	726	26	2		2	VAX1	10	118896070	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2300162	118896070	16638677	417	88469											
MKI67	4288	broad.mit.edu	37	chr10	129901088	129901088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcttggttcccgtgaCgcttccatctttgccacctc	7	17	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:129901088C>T	uc001lke.2	-	13	9211	c.9016G>A	c.(9016-9018)GTC>ATC	p.V3006I	MKI67_uc001lkf.2_Missense_Mutation_p.V2646I|MKI67_uc009yav.1_Missense_Mutation_p.V2581I|MKI67_uc009yaw.1_Missense_Mutation_p.V2156I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3006					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				GTTCCCGTGACGCTTCCATCT	0.572													T	129901088	C	T	129901088	3	4	161	1	0	0	0	0	1	0	0	0	9598	536	19	1	766	1	MKI67	10	129901088	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	11005018	129901088	5633659	418	88470											
EBF3	253738	broad.mit.edu	37	chr10	131639224	131639224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgctgactgtgttgtaaTtggactgctggggagtactg	15	5	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:131639224T>C	uc001lki.1	-	14	1477	c.1418A>G	c.(1417-1419)AAT>AGT	p.N473S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	482	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		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)		TGTGTTGTAATTGGACTGCTG	0.572													C	131639224	T	C	131639224	3	2	161	1	0	0	0	0	1	0	0	0	4882	1493	52	3	249	3	EBF3	10	131639224	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1738136	131639224	3895523	419	88471											
LRRC27	80313	broad.mit.edu	37	chr10	134147117	134147117	+	Frame_Shift_Del	DEL	C	C	-													gactaggagcttgcctgccaCcccctccaaagatgttcaca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:134147116_134147116AC>A	uc010quw.1	+	1	283	c.88_88AC>A	c.(88-90)accfs	p.T30fs	STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Frame_Shift_Del_p.T30fs|LRRC27_uc010quv.1_Frame_Shift_Del_p.T30fs|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Frame_Shift_Del_p.T30fs|LRRC27_uc001llj.2_5'Flank	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	30										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)		CTTGCCTGCCACCCCCTCCAA	0.542													-	134147117	C	-	134147117	7	5	161	1	0	1	0	1	0	0	0	0	8981	507	18	0	91	0	LRRC27	10	134147117	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2507893	134147117	1387630	420	88472											
ADAM8	101	broad.mit.edu	37	chr10	135084401	135084401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctggcccccagaaggcCtggcactgctgggccagtgt	13	15	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:135084401C>A	uc010qva.1	-	13	1482	c.1431G>T	c.(1429-1431)CAG>CAT	p.Q477H	ADAM8_uc010quz.1_Missense_Mutation_p.Q516H|ADAM8_uc009ybi.2_Missense_Mutation_p.Q516H			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	477					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		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)		CCCAGAAGGCCTGGCACTGCT	0.687													A	135084401	C	A	135084401	3	1	161	1	0	0	0	0	1	0	0	0	252	680	24	5	884	5	ADAM8	10	135084401	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	937284	135084401	450346	421	88473											
NLRP6	171389	broad.mit.edu	37	chr11	280967	280967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgggacctgtcgcgcacGtccaagaccaccacgtcagt	12	15	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:280967G>A	uc010qvs.1	+	4	1233	c.1233G>A	c.(1231-1233)ACG>ACA	p.T411T	NLRP6_uc010qvt.1_Silent_p.T411T	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	411	NACHT.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		TGTCGCGCACGTCCAAGACCA	0.652													A	280967	G	A	280967	2	1	161	1	0	0	0	0	0	0	0	1	10481	1132	40	1		1	NLRP6	11	280967	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		280967	134725549	422	88474											
OR51B5	282763	broad.mit.edu	37	chr11	5364645	5364645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtgccattgccaaaaAggatggatatatacatgaac	12	6	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:5364645A>G	uc001map.1	-	1	110	c.110T>C	c.(109-111)CTT>CCT	p.L37P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.L37P	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		ATTGCCAAAAAGGATGGATAT	0.478													G	5364645	A	G	5364645	3	3	161	1	0	0	0	0	1	0	0	0	11091	72	3	3	832	3	OR51B5	11	5364645	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	5083678	5364645	129641871	423	88475											
OR56A3	390083	broad.mit.edu	37	chr11	5968969	5968969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgttatgtagccatctgCcacccactgagatatccatc	7	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:5968969C>T	uc010qzt.1	+	1	393	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		TAGCCATCTGCCACCCACTGA	0.458													T	5968969	C	T	5968969	2	4	161	1	0	0	0	0	0	0	0	1	11134	747	26	2		2	OR56A3	11	5968969	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	604324	5968969	129037547	424	88476											
OR56B4	196335	broad.mit.edu	37	chr11	6129639	6129639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaactgatgctagcatggGtcttggttgggagtgatatg	14	6	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:6129639G>T	uc010qzx.1	+	1	631	c.631G>T	c.(631-633)GTC>TTC	p.V211F		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		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)		GCTAGCATGGGTCTTGGTTGG	0.468													T	6129639	G	T	6129639	3	4	161	1	0	0	0	0	1	0	0	0	11138	1261	44	5	633	5	OR56B4	11	6129639	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	160670	6129639	128876877	425	88477											
OR52B2	255725	broad.mit.edu	37	chr11	6190659	6190659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctacaccctcacgtatctGcttagtcttcacaccataga	6	14	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:6190659G>T	uc010qzy.1	-	1	898	c.898C>A	c.(898-900)CAG>AAG	p.Q300K		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACGTATCTGCTTAGTCTTC	0.493													T	6190659	G	T	6190659	3	4	161	1	0	0	0	0	1	0	0	0	11111	1328	46	5	76	5	OR52B2	11	6190659	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	61020	6190659	128815857	426	88478											
DCHS1	8642	broad.mit.edu	37	chr11	6647176	6647176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcagcccagatctcacggtCcaggatggctgtggtagtga	13	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:6647176C>A	uc001mem.1	-	17	7116	c.6706G>T	c.(6706-6708)GAC>TAC	p.D2236Y		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2236	Extracellular (Potential).|Cadherin 21.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCACGGTCCAGGATGGCT	0.577													A	6647176	C	A	6647176	3	1	161	1	0	0	0	0	1	0	0	0	4287	855	30	5	3210	5	DCHS1	11	6647176	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	456517	6647176	128359340	427	88479											
ZNF214	7761	broad.mit.edu	37	chr11	7022420	7022420	+	Frame_Shift_Del	DEL	C	C	-													atatgccaagacggtatctgCccccttgaaaaccatgtgaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:7022419_7022419GC>G	uc009yfh.1	-	2	794	c.495_495GC>C	c.(493-495)ggcfs	p.G165fs	ZNF214_uc001mfa.2_Frame_Shift_Del_p.G165fs|ZNF214_uc010ray.1_Frame_Shift_Del_p.G165fs	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	165					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)		GACGGTATCTGCCCCCTTGAA	0.413													-	7022420	C	-	7022420	7	5	161	1	0	1	0	1	0	0	0	0	17767	739	26	0	1330	0	ZNF214	11	7022420	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	375244	7022420	127984096	428	88480											
AMPD3	272	broad.mit.edu	37	chr11	10523119	10523119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgacaacatttcccaCgggctgctcctcaagaaggt	9	13	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:10523119C>T	uc001mio.1	+	12	2159	c.1824C>T	c.(1822-1824)CAC>CAT	p.H608H	AMPD3_uc010rbz.1_Silent_p.H449H|AMPD3_uc001min.1_Silent_p.H617H|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.H615H|AMPD3_uc009yfy.2_Silent_p.H608H	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	608		Proton acceptor (By similarity).			AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACATTTCCCACGGGCTGCTCC	0.637													T	10523119	C	T	10523119	2	4	161	1	0	0	0	0	0	0	0	1	587	535	19	1		1	AMPD3	11	10523119	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3500699	10523119	124483397	429	88481											
SPON1	10418	broad.mit.edu	37	chr11	13984526	13984526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgctgcccctggccgcGgcgctggccttctccgacga	14	18	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:13984526G>A	uc001mle.2	+	1	613	c.75G>A	c.(73-75)GCG>GCA	p.A25A		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	25					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CCCTGGCCGCGGCGCTGGCCT	0.711													A	13984526	G	A	13984526	2	1	161	1	0	0	0	0	0	0	0	1	15081	1103	39	1		1	SPON1	11	13984526	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3461407	13984526	121021990	430	88482											
COPB1	1315	broad.mit.edu	37	chr11	14510133	14510133	+	Splice_Site	DEL	A	A	-													gtaatccaaagctcgatcctAaaaaaaataagaatatattt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					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|ER-Golgi intermediate compartment|cytosol|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						AGCTCGATCCTAAAAAAAATA	0.294													-	14510133	A	-	14510133	8	5	161	1	0	1	0	1	0	0	1	0	3728	377	13	0		0	COPB1	11	14510133	Splice_Site	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	525607	14510133	120496383	431	88483											
KCNC1	3746	broad.mit.edu	37	chr11	17793218	17793218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatccccacagtatgtgGccttcgcttccctcttcttc	5	16	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:17793218G>A	uc001mnk.3	+	2	632	c.577G>A	c.(577-579)GCC>ACC	p.A193T	KCNC1_uc009yhc.1_Missense_Mutation_p.A193T	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	193	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						ACAGTATGTGGCCTTCGCTTC	0.597													A	17793218	G	A	17793218	3	1	161	1	0	0	0	0	1	0	0	0	8014	1203	42	2	583	2	KCNC1	11	17793218	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3283085	17793218	117213298	432	88484											
CRY2	1408	broad.mit.edu	37	chr11	45869014	45869014	+	Frame_Shift_Del	DEL	G	G	-													gtcgcctaccggggcggagcGggggtggctggagcagtctg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:45869014delG	uc010rgn.1	+	1	58	c.36delG	c.(34-36)GCGfs	p.A12fs	CRY2_uc009ykw.2_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	Error:Variant_position_missing_in_Q49AN0_after_alignment					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			central_nervous_system(1)	1						GGGGCGGAGCGGGGGTGGCTG	0.547													-	45869014	G	-	45869014	7	5	161	1	0	1	0	1	0	0	0	0	3904	1103	39	0	74	0	CRY2	11	45869014	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	28075796	45869014	89137502	433	88485											
CRY2	1408	broad.mit.edu	37	chr11	45877621	45877621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggacagccagccgacGtgttcccaaggctgttcaag	13	13	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:45877621G>A	uc010rgn.1	+	2	389	c.367G>A	c.(367-369)GTG>ATG	p.V123M	CRY2_uc009ykw.2_Missense_Mutation_p.V41M	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	102	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			central_nervous_system(1)	1						GCCAGCCGACGTGTTCCCAAG	0.522													A	45877621	G	A	45877621	3	1	161	1	0	0	0	0	1	0	0	0	3904	1145	40	1	409	1	CRY2	11	45877621	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	8607	45877621	89128895	434	88486											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949132	45949132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgcctattctctctAcgactacctcaggtgggcct	8	16	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:45949132A>G	uc001nbv.1	+	11	1703	c.1592A>G	c.(1591-1593)TAC>TGC	p.Y531C	GYLTL1B_uc001nbw.1_Missense_Mutation_p.Y500C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.Y531C|GYLTL1B_uc001nby.1_Missense_Mutation_p.Y214C|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	531	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		TATTCTCTCTACGACTACCTC	0.602													G	45949132	A	G	45949132	3	3	161	1	0	0	0	0	1	0	0	0	6907	391	14	3	1630	3	GYLTL1B	11	45949132	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	71511	45949132	89057384	435	88487											
MADD	8567	broad.mit.edu	37	chr11	47296226	47296226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtgttcttctgccagcccGagggctgcctgagcgtgcgg	15	12	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:47296226G>A	uc001ner.1	+	3	366	c.175G>A	c.(175-177)GAG>AAG	p.E59K	MADD_uc001neq.2_Missense_Mutation_p.E59K|MADD_uc001nev.1_Missense_Mutation_p.E59K|MADD_uc001nes.1_Missense_Mutation_p.E59K|MADD_uc001net.1_Missense_Mutation_p.E59K|MADD_uc009yln.1_Missense_Mutation_p.E59K|MADD_uc001neu.1_Missense_Mutation_p.E59K|MADD_uc001nex.2_Missense_Mutation_p.E59K|MADD_uc001nez.2_Missense_Mutation_p.E59K|MADD_uc001new.2_Missense_Mutation_p.E59K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	59	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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTGCCAGCCCGAGGGCTGCCT	0.582													A	47296226	G	A	47296226	3	1	161	1	0	0	0	0	1	0	0	0	9152	1059	37	1	181	1	MADD	11	47296226	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1347094	47296226	87710290	436	88488											
OR8I2	120586	broad.mit.edu	37	chr11	55861386	55861386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggtgagctttgtcttAgctggattcactcttcttag	10	7	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:55861386A>G	uc010rix.1	+	1	603	c.603A>G	c.(601-603)TTA>TTG	p.L201L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GCTTTGTCTTAGCTGGATTCA	0.443													G	55861386	A	G	55861386	2	3	161	1	0	0	0	0	0	0	0	1	11240	417	15	3		3	OR8I2	11	55861386	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	8565160	55861386	79145130	437	88489											
OR5M9	390162	broad.mit.edu	37	chr11	56230421	56230421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtgcatattaggctgaCagagaatccatagacataag	10	6	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:56230421C>A	uc010rjj.1	-	1	457	c.457G>T	c.(457-459)GTC>TTC	p.V153F		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATTAGGCTGACAGAGAATCCA	0.453													A	56230421	C	A	56230421	3	1	161	1	0	0	0	0	1	0	0	0	11177	478	17	5	477	5	OR5M9	11	56230421	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	369035	56230421	78776095	438	88490											
SERPING1	710	broad.mit.edu	37	chr11	57367850	57367850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttacccaggtcctgctcGgtaagaccctgcttgaattc	8	14	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:57367850G>A	uc001nkp.1	+	3	741	c.550G>A	c.(550-552)GGG>AGG	p.G184R	SERPING1_uc001nkq.1_Missense_Mutation_p.G184R|SERPING1_uc010rju.1_Missense_Mutation_p.G132R|SERPING1_uc010rjv.1_Missense_Mutation_p.G189R|SERPING1_uc001nkr.1_Missense_Mutation_p.G184R|SERPING1_uc009ymi.1_Missense_Mutation_p.G184R|SERPING1_uc009ymj.1_Missense_Mutation_p.G184R|SERPING1_uc001nks.1_Intron	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	184					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)	1						GGTCCTGCTCGGTAAGACCCT	0.522									Hereditary_Angioedema				A	57367850	G	A	57367850	3	1	161	1	0	0	0	0	1	0	0	0	14116	1130	39	1	556	1	SERPING1	11	57367850	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1137429	57367850	77638666	439	88491											
OR5A2	219981	broad.mit.edu	37	chr11	59189571	59189571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagatgatgggattcaCcacggggatcaccaaggcat	12	9	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:59189571C>T	uc010rkt.1	-	1	856	c.856G>A	c.(856-858)GTG>ATG	p.V286M		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGGGATTCACCACGGGGATC	0.473													T	59189571	C	T	59189571	3	4	161	1	0	0	0	0	1	0	0	0	11140	507	18	4	120	4	OR5A2	11	59189571	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1821721	59189571	75816945	440	88492											
GIF	2694	broad.mit.edu	37	chr11	59599272	59599272	+	Splice_Site	DEL	A	A	-													gtcattgtggtttcaaatctAaaaaaaagtttatatatgat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:59599271_59599271TA>T	uc001noi.3	-	8	1122	c.1074_splice	c.e8-1	p.K358_splice		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	358					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						GTTTCAAATCTAAAAAAAAGT	0.338													-	59599272	A	-	59599272	8	5	161	1	0	1	0	1	0	0	1	0	6376	377	13	0		0	GIF	11	59599272	Splice_Site	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	409701	59599272	75407244	441	88493											
MS4A15	219995	broad.mit.edu	37	chr11	60540898	60540898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaccaacatcctcagcGtcatggcggcctttgctggg	13	13	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:60540898G>A	uc009ynf.1	+	5	659	c.439G>A	c.(439-441)GTC>ATC	p.V147I	MS4A15_uc001npx.2_Missense_Mutation_p.V54I|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.V106I	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	147	Helical; (Potential).					integral to membrane	receptor activity			lung(1)	1						CATCCTCAGCGTCATGGCGGC	0.567													A	60540898	G	A	60540898	3	1	161	1	0	0	0	0	1	0	0	0	9859	1145	40	1	453	1	MS4A15	11	60540898	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	941626	60540898	74465618	442	88494											
GPR44	11251	broad.mit.edu	37	chr11	60620602	60620602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctgccgcgagttgcaCgtggcatcgcggtcaggccc	14	16	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:60620602C>T	uc001nqc.2	-	2	706	c.594G>A	c.(592-594)ACG>ACA	p.T198T		NM_004778	NP_004769	Q9Y5Y4	GPR44_HUMAN	G protein-coupled receptor 44	198	Extracellular (Potential).				immune response	integral to plasma membrane	N-formyl peptide receptor activity			ovary(1)	1						GCGAGTTGCACGTGGCATCGC	0.657													T	60620602	C	T	60620602	2	4	161	1	0	0	0	0	0	0	0	1	6695	523	19	1		1	GPR44	11	60620602	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	79704	60620602	74385914	443	88495											
DAGLA	747	broad.mit.edu	37	chr11	61511088	61511088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcggcggcggcccgccaGgacccggtggagctgctgct	18	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:61511088G>T	uc001nsa.2	+	20	2367	c.2256G>T	c.(2254-2256)CAG>CAT	p.Q752H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	752	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CGGCCCGCCAGGACCCGGTGG	0.706													T	61511088	G	T	61511088	3	4	161	1	0	0	0	0	1	0	0	0	4226	991	35	5	2330	5	DAGLA	11	61511088	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	890486	61511088	73495428	444	88496											
AHNAK	79026	broad.mit.edu	37	chr11	62289177	62289177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagggccctttagtttcgCatctggaccttcgatattca	8	10	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:62289177C>T	uc001ntl.2	-	5	13012	c.12712G>A	c.(12712-12714)GCG>ACG	p.A4238T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4238					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTTAGTTTCGCATCTGGACCT	0.498													T	62289177	C	T	62289177	3	4	161	1	0	0	0	0	1	0	0	0	414	710	25	2	5080	2	AHNAK	11	62289177	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	778089	62289177	72717339	445	88497											
ROM1	6094	broad.mit.edu	37	chr11	62380758	62380758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagagatgggagatggCgccggtgttgcccctggtgc	19	9	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:62380758C>T	uc001ntv.2	+	1	546	c.5C>T	c.(4-6)GCG>GTG	p.A2V	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	2	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TGGGAGATGGCGCCGGTGTTG	0.677													T	62380758	C	T	62380758	3	4	161	1	0	0	0	0	1	0	0	0	13521	768	27	1	7	1	ROM1	11	62380758	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	91581	62380758	72625758	446	88498											
RARRES3	5920	broad.mit.edu	37	chr11	63313709	63313710	+	Frame_Shift_Ins	INS	-	-	A													tttgcgattaggagataccaINSaaaaaaagcgacagcctgaa					rs74932327		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:63313708_63313709C>CA	uc001nxf.4	+	3	543_544	c.475_476C>CA	c.(475-477)caafs	p.Q159fs		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	159					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TAGGAGATACCAAAAAAAAGCG	0.54													A	63313710	-	A	63313709	7	5	161	1	0	1	1	0	0	0	0	0	13057	130	5	0	490	0	RARRES3	11	63313709	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	932951	63313709	71692807	447	88499											
C11orf84	144097	broad.mit.edu	37	chr11	63594575	63594575	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagaatccagcaccacTgtggcagggaagccggaaaa	12	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:63594575T>C	uc001nxt.2	+	6	1346	c.1110T>C	c.(1108-1110)ACT>ACC	p.T370T	C11orf84_uc001nxu.1_RNA	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	370											0						CCAGCACCACTGTGGCAGGGA	0.592													C	63594575	T	C	63594575	2	2	161	1	0	0	0	0	0	0	0	1	1667	1567	55	3		3	C11orf84	11	63594575	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	280866	63594575	71411941	448	88500											
PLCB3	5331	broad.mit.edu	37	chr11	64031188	64031188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactacgtctgcctgcggaaCgaggccaaccaaccgctgtg	11	15	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:64031188C>T	uc001nzb.2	+	21	2481	c.2481C>T	c.(2479-2481)AAC>AAT	p.N827N	PLCB3_uc009ypg.1_Silent_p.N827N|PLCB3_uc009yph.1_Silent_p.N760N|PLCB3_uc009ypi.2_Silent_p.N827N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	827					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GCCTGCGGAACGAGGCCAACC	0.667													T	64031188	C	T	64031188	2	4	161	1	0	0	0	0	0	0	0	1	12029	535	19	1		1	PLCB3	11	64031188	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	436613	64031188	70975328	449	88501											
EFEMP2	30008	broad.mit.edu	37	chr11	65634501	65634501	+	Frame_Shift_Del	DEL	C	C	-													ccagcacgtactcccgggggCccgtcaccggccgggcgagg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:65634500_65634500GC>G	uc001ofy.4	-	10	1480	c.1221_1221GC>C	c.(1219-1221)ggcfs	p.G407fs	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	407					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		ACTCCCGGGGGCCCGTCACCG	0.607													-	65634501	C	-	65634501	7	5	161	1	0	1	0	1	0	0	0	0	4942	739	26	0	115	0	EFEMP2	11	65634501	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1603313	65634501	69372015	450	88502											
SPTBN2	6712	broad.mit.edu	37	chr11	66466164	66466164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagctcggccatgaatgcCtggtgcttctgccacttagt	11	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:66466164C>A	uc001ojd.2	-	19	4032	c.3960G>T	c.(3958-3960)CAG>CAT	p.Q1320H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1320	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCATGAATGCCTGGTGCTTCT	0.597													A	66466164	C	A	66466164	3	1	161	1	0	0	0	0	1	0	0	0	15119	680	24	5	3288	5	SPTBN2	11	66466164	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	831663	66466164	68540352	451	88503											
GPR152	390212	broad.mit.edu	37	chr11	67219919	67219919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggccagtgtcccccatGccggatctctaggatctgga	12	14	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:67219919G>A	uc001olm.2	-	1	282	c.277C>T	c.(277-279)CAT>TAT	p.H93Y	uc009yrw.1_RNA|CABP4_uc001oln.2_5'UTR|CABP4_uc001olo.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	93	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGTCCCCCATGCCGGATCTCT	0.652													A	67219919	G	A	67219919	3	1	161	1	0	0	0	0	1	0	0	0	6658	1319	46	2	1139	2	GPR152	11	67219919	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	753755	67219919	67786597	452	88504											
MRGPRD	116512	broad.mit.edu	37	chr11	68747599	68747599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggacctggtgggcagcCtgtggctcctccggctgccc	15	16	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:68747599C>A	uc010rqf.1	-	1	857	c.857G>T	c.(856-858)AGG>ATG	p.R286M		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	286	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTGGGCAGCCTGTGGCTCCT	0.652													A	68747599	C	A	68747599	3	1	161	1	0	0	0	0	1	0	0	0	9763	681	24	5	111	5	MRGPRD	11	68747599	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1527680	68747599	66258917	453	88505											
FADD	8772	broad.mit.edu	37	chr11	70052405	70052406	+	Frame_Shift_Del	DEL	AG	AG	-													ctgagaatctggaagaacacAgagaaggagaacgcaacagt					rs150178083		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:70052404_70052405CAG>C	uc001opm.2	+	1	749_750	c.452_453CAG>C	c.(451-453)acafs	p.T151fs		NM_003824	NP_003815	Q13158	FADD_HUMAN	Homo sapiens Fas (TNFRSF6)-associated via death domain (FADD), mRNA.	151	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)			TGGAAGAACACAGAGAAGGAGA	0.579													-	70052406	AG	-	70052405	7	5	161	1	0	1	0	1	0	0	0	0	5364	175	7	0	459	0	FADD	11	70052405	Frame_Shift_Del	DEL	AG	TCGA-CD-A4MJ-01A-11D-A25D-08	1304806	70052405	64954111	454	88506											
SHANK2	22941	broad.mit.edu	37	chr11	70333046	70333046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggccgcgtcctgggggCgggtggccccaggcccacat	19	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:70333046C>T	uc001oqc.2	-	21	3430	c.3352G>A	c.(3352-3354)GCC>ACC	p.A1118T	SHANK2_uc010rqn.1_Missense_Mutation_p.A530T|SHANK2_uc001opz.2_Missense_Mutation_p.A523T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	739					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCCTGGGGGCGGGTGGCCCC	0.687													T	70333046	C	T	70333046	3	4	161	1	0	0	0	0	1	0	0	0	14265	768	27	1	2205	1	SHANK2	11	70333046	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	280641	70333046	64673470	455	88507											
P4HA3	283208	broad.mit.edu	37	chr11	74009285	74009285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaggccaagtgatccAaggcatcttctagacttgcc	9	11	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:74009285A>G	uc001ouz.2	-	4	732	c.689T>C	c.(688-690)TTG>TCG	p.L230S	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.L230S	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	230	TPR.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					CAAGTGATCCAAGGCATCTTC	0.413													G	74009285	A	G	74009285	3	3	161	1	0	0	0	0	1	0	0	0	11358	131	5	3	985	3	P4HA3	11	74009285	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3676239	74009285	60997231	456	88508											
PRKRIR	5612	broad.mit.edu	37	chr11	76062943	76062943	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagatttccttcagttcTttacccctttctttactgtt	5	11	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:76062943T>G	uc001oxh.1	-	5	1251	c.1251A>C	c.(1249-1251)AAA>AAC	p.K417N	PRKRIR_uc010rrz.1_Missense_Mutation_p.K242N	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	417					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CCTTCAGTTCTTTACCCCTTT	0.378													G	76062943	T	G	76062943	3	3	161	1	0	0	0	0	1	0	0	0	12526	1606	56	5	1038	5	PRKRIR	11	76062943	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2053658	76062943	58943573	457	88509											
ODZ4	26011	broad.mit.edu	37	chr11	78433794	78433794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccacatagaggctcccgTcagagccacaggtgagggcc	12	15	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:78433794T>C	uc001ozl.3	-	24	4182	c.3719A>G	c.(3718-3720)GAC>GGC	p.D1240G		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1240	Extracellular (Potential).|NHL 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GAGGCTCCCGTCAGAGCCACA	0.557													C	78433794	T	C	78433794	3	2	161	1	0	0	0	0	1	0	0	0	10837	1667	58	3	4634	3	ODZ4	11	78433794	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2370851	78433794	56572722	458	88510											
GRM5	2915	broad.mit.edu	37	chr11	88300371	88300371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtttctctctggtttgGccaggatgatgtacaccttc	10	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:88300371G>T	uc001pcq.2	-	7	2680	c.2480C>A	c.(2479-2481)GCC>GAC	p.A827D	GRM5_uc009yvm.2_Missense_Mutation_p.A827D	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	827	Helical; Name=7; (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCTGGTTTGGCCAGGATGAT	0.562													T	88300371	G	T	88300371	3	4	161	1	0	0	0	0	1	0	0	0	6800	1203	42	5	1170	5	GRM5	11	88300371	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	9866577	88300371	46706145	459	88511											
FAT3	120114	broad.mit.edu	37	chr11	92624149	92624149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagaggcacctcatcctCggatgtgtctgccaactgcg	10	14	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:92624149C>T	uc001pdj.3	+	25	13561	c.13544C>T	c.(13543-13545)TCG>TTG	p.S4515L	FAT3_uc001pdi.3_Missense_Mutation_p.S987L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4547	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCTCATCCTCGGATGTGTCT	0.552										TCGA Ovarian(4;0.039)			T	92624149	C	T	92624149	3	4	161	1	0	0	0	0	1	0	0	0	5691	893	31	1	13642	1	FAT3	11	92624149	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4323778	92624149	42382367	460	88512											
GPR83	10888	broad.mit.edu	37	chr11	94113840	94113840	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagatgatgaggaggggcagGatgtagagcaggatgaaggt	20	2	0	5			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:94113840G>C	uc001pet.2	-	4	919	c.747C>G	c.(745-747)ATC>ATG	p.I249M		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	249	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAGGGGCAGGATGTAGAGCA	0.557													C	94113840	G	C	94113840	3	2	161	1	0	0	0	0	1	0	0	0	6713	1164	41	5	528	5	GPR83	11	94113840	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1489691	94113840	40892676	461	88513											
AMOTL1	154810	broad.mit.edu	37	chr11	94602566	94602566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccttcccagccgcggcCggctgagcacgacccctgct	10	21	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:94602566C>T	uc001pfb.2	+	12	2862	c.2692C>T	c.(2692-2694)CGG>TGG	p.R898W	AMOTL1_uc001pfc.2_Missense_Mutation_p.R848W	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	898						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCGCGGCCGGCTGAGCAC	0.647													T	94602566	C	T	94602566	3	4	161	1	0	0	0	0	1	0	0	0	583	643	23	1	2738	1	AMOTL1	11	94602566	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	488726	94602566	40403950	462	88514											
GRIA4	2893	broad.mit.edu	37	chr11	105845045	105845045	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcccccctaggacaagacGagtgccttgagcctgagcaa	10	13	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:105845045G>A	uc001pix.2	+	16	2864	c.2418G>A	c.(2416-2418)ACG>ACA	p.T806T	GRIA4_uc001piw.2_Silent_p.T806T|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	806	Extracellular (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	AGGACAAGACGAGTGCCTTGA	0.448													A	105845045	G	A	105845045	2	1	161	1	0	0	0	0	0	0	0	1	6770	1045	37	1		1	GRIA4	11	105845045	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	11242479	105845045	29161471	463	88515											
C11orf57	55216	broad.mit.edu	37	chr11	111953628	111953631	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													acaatgaaatacaggagaggAcaaacaaacgcacaaattgg					rs143693721		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:111953627_111953630GACAA>G	uc001pmw.4	+	5	936_939	c.813_816GACAA>G	c.(811-816)aggacafs	p.R271fs	C11orf57_uc001pmr.4_Frame_Shift_Del_p.R270fs|C11orf57_uc001pmt.4_Frame_Shift_Del_p.R271fs|C11orf57_uc001pmv.4_Frame_Shift_Del_p.R270fs|C11orf57_uc001pms.4_Frame_Shift_Del_p.R242fs	NM_001082969	NP_060665	Q6ZUT1	CK057_HUMAN	Homo sapiens chromosome 11 open reading frame 57 (C11orf57), transcript variant 2, mRNA.	270										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		TACAGGAGAGGACAAACAAACGCA	0.412													-	111953631	ACAA	-	111953628	7	5	161	1	0	1	0	1	0	0	0	0	1650	275	10	0	832	0	C11orf57	11	111953628	Frame_Shift_Del	DEL	ACAA	TCGA-CD-A4MJ-01A-11D-A25D-08	6108583	111953628	23052888	464	88516											
BUD13	84811	broad.mit.edu	37	chr11	116627916	116627916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattaaatctgttgggaggaGgtgctggaccactgtagcga	14	6	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:116627916G>T	uc001ppn.2	-	9	1746	c.1712C>A	c.(1711-1713)CCT>CAT	p.P571H	BUD13_uc001ppo.2_Missense_Mutation_p.P437H	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	571										large_intestine(1)|pancreas(1)	2	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)		GTTGGGAGGAGGTGCTGGACC	0.443													T	116627916	G	T	116627916	3	4	161	1	0	0	0	0	1	0	0	0	1573	1000	35	5	155	5	BUD13	11	116627916	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4674288	116627916	18378600	465	88517											
SCN4B	6330	broad.mit.edu	37	chr11	118014578	118014578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttggaggaagatggtggCgtggtgctggagattattct	17	4	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:118014578C>T	uc001pse.2	-	3	675	c.433G>A	c.(433-435)GCC>ACC	p.A145T	SCN4B_uc010rxu.1_Missense_Mutation_p.A35T|SCN4B_uc010rxv.1_Intron	NM_174934	NP_777594	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta	145	Ig-like C2-type.|Extracellular (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AAGATGGTGGCGTGGTGCTGG	0.547													T	118014578	C	T	118014578	3	4	161	1	0	0	0	0	1	0	0	0	13921	768	27	1	265	1	SCN4B	11	118014578	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1386662	118014578	16991938	466	88518											
BCL9L	283149	broad.mit.edu	37	chr11	118773106	118773106	+	Frame_Shift_Del	DEL	G	G	-													tgggtggctgctgggggggaGggggggcttgtgctggtggg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:118773106delG	uc001pug.2	-	6	2311	c.1346delC	c.(1345-1347)CCTfs	p.P449fs	BCL9L_uc009zal.2_Frame_Shift_Del_p.P444fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	449	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				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			ovary(1)|pancreas(1)	2	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)		CTGGGGGGGAGGGGGGGCTTG	0.667													-	118773106	G	-	118773106	7	5	161	1	0	1	0	1	0	0	0	0	1382	1000	35	0	3165	0	BCL9L	11	118773106	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	758528	118773106	16233410	467	88519											
HYOU1	10525	broad.mit.edu	37	chr11	118919812	118919812	+	Frame_Shift_Del	DEL	G	G	-													ctcccttaggttcagggggtGggggctgagagccatcctcc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:118919812delG	uc001puu.2	-	17	2103	c.1910delC	c.(1909-1911)CCAfs	p.P637fs	HYOU1_uc001put.2_Frame_Shift_Del_p.P602fs|HYOU1_uc010ryu.1_Intron|HYOU1_uc010ryv.1_Frame_Shift_Del_p.P526fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.P637fs|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Frame_Shift_Del_p.P637fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	637	Poly-Pro.					endoplasmic reticulum lumen	ATP binding|protein binding				0	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)		TTCAGGGGGTGGGGGCTGAGA	0.607													-	118919812	G	-	118919812	7	5	161	1	0	1	0	1	0	0	0	0	7470	1348	47	0	1129	0	HYOU1	11	118919812	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	146706	118919812	16086704	468	88520											
C1QTNF5	114902	broad.mit.edu	37	chr11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C													ggctccagcctcaccatggcINScccccccgagagcgaggctg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													C	119210191	-	C	119210190	7	5	161	1	0	1	1	0	0	0	0	0	1966	739	26	0	152	0	C1QTNF5	11	119210190	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	290378	119210190	15796326	469	88521											
TRIM29	23650	broad.mit.edu	37	chr11	119998088	119998088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctatgcagctgctcccGggtctgcttgtcctcatgca	11	13	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:119998088G>A	uc001pwz.2	-	3	1214	c.1090C>T	c.(1090-1092)CGG>TGG	p.R364W	TRIM29_uc010rzi.1_Missense_Mutation_p.R103W|TRIM29_uc010rzj.1_Missense_Mutation_p.R97W|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	364					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGCTGCTCCCGGGTCTGCTTG	0.542													A	119998088	G	A	119998088	3	1	161	1	0	0	0	0	1	0	0	0	16500	1115	39	1	704	1	TRIM29	11	119998088	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	787898	119998088	15008428	470	88522											
OR4D5	219875	broad.mit.edu	37	chr11	123811011	123811011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgctccgaagccactcaCgggagggccgcagcaaggcc	13	15	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:123811011C>T	uc001pzk.1	+	1	688	c.688C>T	c.(688-690)CGG>TGG	p.R230W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		AAGCCACTCACGGGAGGGCCG	0.522													T	123811011	C	T	123811011	3	4	161	1	0	0	0	0	1	0	0	0	11057	527	19	1	690	1	OR4D5	11	123811011	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3812923	123811011	11195505	471	88523											
OR8B2	26595	broad.mit.edu	37	chr11	124252647	124252647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccacaacaatgagaacaAccacctcgttgacataggtg	7	12	0	2	rs141277809		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:124252647A>G	uc010sai.1	-	1	593	c.593T>C	c.(592-594)GTT>GCT	p.V198A		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		AATGAGAACAACCACCTCGTT	0.433													G	124252647	A	G	124252647	3	3	161	1	0	0	0	0	1	0	0	0	11227	43	2	3	351	3	OR8B2	11	124252647	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	441636	124252647	10753869	472	88524											
SRPR	6734	broad.mit.edu	37	chr11	126137087	126137088	+	Frame_Shift_Ins	INS	-	-	T													gccttccttcttggccccctINStttttttgctattctttgct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:126137086_126137087C>CT	uc001qdh.3	-	3	687_688	c.509_510G>AG	c.(508-510)aagfs	p.K170fs	SRPR_uc010sbm.2_Frame_Shift_Ins_p.K142fs|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	170					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.K170fs*33(4)|p.K170K(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCTTGGCCCCCTTTTTTTTGCT	0.436													T	126137088	-	T	126137087	7	5	161	1	0	1	1	0	0	0	0	0	15161	1609	56	0	1451	0	SRPR	11	126137087	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1884440	126137087	8869429	473	88525											
CACNA1C	775	broad.mit.edu	37	chr12	2675632	2675632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgcagaaggaagtgccGcgccgcagtcaagtctaatg	13	10	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:2675632G>A	uc009zdu.1	+	12	1866	c.1553G>A	c.(1552-1554)CGC>CAC	p.R518H	CACNA1C_uc009zdv.1_Missense_Mutation_p.R515H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R518H|CACNA1C_uc001qke.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518H|CACNA1C_uc001qko.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518H|CACNA1C_uc001qku.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518H|CACNA1C_uc001qks.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518H|CACNA1C_uc001qka.1_Missense_Mutation_p.R53H|CACNA1C_uc001qki.1_Missense_Mutation_p.R254H|CACNA1C_uc001qkj.1_Missense_Mutation_p.R254H|CACNA1C_uc001qkk.1_Missense_Mutation_p.R254H|CACNA1C_uc001qkm.1_Missense_Mutation_p.R254H|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183H|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	518	II.|Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	AGGAAGTGCCGCGCCGCAGTC	0.567													A	2675632	G	A	2675632	3	1	161	1	0	0	0	0	1	0	0	0	2540	1087	38	1	1707	1	CACNA1C	12	2675632	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		2675632	131176263	474	88526											
CHD4	1108	broad.mit.edu	37	chr12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggtcaatggcctcttgcCgcatgttcccagtgattcca	10	13	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:6700658C>T	uc001qpo.2	-	22	3478	c.3314G>A	c.(3313-3315)CGG>CAG	p.R1105Q	CHD4_uc001qpn.2_Missense_Mutation_p.R1098Q|CHD4_uc001qpp.2_Missense_Mutation_p.R1102Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal.				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						GGCCTCTTGCCGCATGTTCCC	0.433													T	6700658	C	T	6700658	3	4	161	1	0	0	0	0	1	0	0	0	3327	652	23	1	2500	1	CHD4	12	6700658	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4025026	6700658	127151237	475	88527											
C3AR1	719	broad.mit.edu	37	chr12	8212438	8212438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgatccaggctaatgGcagtaagcaggaagacactg	13	9	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:8212438G>A	uc001qtv.1	-	2	436	c.344C>T	c.(343-345)GCC>GTC	p.A115V		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	115	Helical; Name=3; (Potential).				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			ovary(1)	1				Kidney(36;0.0893)		CAGGCTAATGGCAGTAAGCAG	0.517													A	8212438	G	A	8212438	3	1	161	1	0	0	0	0	1	0	0	0	2205	1203	42	2	1108	2	C3AR1	12	8212438	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1511780	8212438	125639457	476	88528											
PLEKHA5	54477	broad.mit.edu	37	chr12	19475256	19475256	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacctaggccaagttaagcCgattatgtgaacaagataaa	8	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:19475256C>T	uc001reb.2	+	14	2007	c.1921C>T	c.(1921-1923)CGA>TGA	p.R641*	PLEKHA5_uc010sie.1_Nonsense_Mutation_p.R744*|PLEKHA5_uc001rea.2_Nonsense_Mutation_p.R699*|PLEKHA5_uc009zin.2_Nonsense_Mutation_p.R399*|PLEKHA5_uc010sif.1_Nonsense_Mutation_p.R572*|PLEKHA5_uc010sig.1_Nonsense_Mutation_p.R560*|PLEKHA5_uc010sih.1_Nonsense_Mutation_p.R533*|PLEKHA5_uc001rec.1_Nonsense_Mutation_p.R387*|PLEKHA5_uc009zio.2_5'Flank	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	641							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAAGTTAAGCCGATTATGTGA	0.348													T	19475256	C	T	19475256	4	4	161	1	0	0	0	0	0	1	0	0	12059	644	23	1	2100	1	PLEKHA5	12	19475256	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	11262818	19475256	114376639	477	88529											
RECQL	5965	broad.mit.edu	37	chr12	21630862	21630862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcccaattagtgatgCgttagggaactgccgcttta	11	9	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:21630862C>T	uc001rex.2	-	8	1090	c.742G>A	c.(742-744)GCA>ACA	p.A248T	RECQL_uc001rey.2_Missense_Mutation_p.A248T	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	248	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						ATTAGTGATGCGTTAGGGAAC	0.358								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	21630862	C	T	21630862	3	4	161	1	0	0	0	0	1	0	0	0	13201	768	27	1	1243	1	RECQL	12	21630862	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2155606	21630862	112221033	478	88530											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	161	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3767422	25398284	108453611	479	88531											
GXYLT1	283464	broad.mit.edu	37	chr12	42481685	42481686	+	Frame_Shift_Ins	INS	-	-	T													tccacagtatgtatgcactgINSttttttgtagttccagttct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:42481685_42481686insT	uc001rms.3	-	8	1450_1451	c.1225_1226insA	c.(1225-1227)ACAfs	p.T409fs	GXYLT1_uc001rmt.3_Frame_Shift_Ins_p.T378fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	409	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						TGTATGCACTGTTTTTTGTAGT	0.282													T	42481686	-	T	42481685	7	5	161	1	0	1	1	0	0	0	0	0	6903	1377	48	0	100	0	GXYLT1	12	42481685	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	17083401	42481685	91370210	480	88532	434	2									
GXYLT1	283464	broad.mit.edu	37	chr12	42481686	42481687	+	Frame_Shift_Ins	INS	-	-	T													ccacagtatgtatgcactgtINStttttgtagttccagttcta							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:42481685_42481686G>GT	uc001rms.4	-	7	1450_1451	c.1225_1226C>AC	c.(1225-1227)acafs	p.T409fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.T378fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	409					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.T409fs*17(2)|p.K408I(1)|p.T378fs*17(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGTATGCACTGTTTTTTGTAGT	0.282													T	42481687	-	T	42481686	7	5	161	1	0	1	1	0	0	0	0	0	6903	1725	60	0	101	0	GXYLT1	12	42481686	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	42481686	91370209	481	88533	434	2									
NELL2	4753	broad.mit.edu	37	chr12	45168556	45168556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccttacagcatttgccaTccacatacgcaagagccgac	6	14	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:45168556T>C	uc001rog.2	-	9	1563	c.968A>G	c.(967-969)GAT>GGT	p.D323G	NELL2_uc001rof.3_Missense_Mutation_p.D322G|NELL2_uc001roh.2_Missense_Mutation_p.D323G|NELL2_uc009zkd.2_Missense_Mutation_p.D322G|NELL2_uc010skz.1_Missense_Mutation_p.D373G|NELL2_uc010sla.1_Missense_Mutation_p.D346G|NELL2_uc001roi.1_Missense_Mutation_p.D323G|NELL2_uc010slb.1_Missense_Mutation_p.D322G|NELL2_uc001roj.2_Missense_Mutation_p.D323G	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	323	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCATTTGCCATCCACATACGC	0.368											OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	45168556	T	C	45168556	3	2	161	1	0	0	0	0	1	0	0	0	10334	1435	50	3	1530	3	NELL2	12	45168556	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2686870	45168556	88683339	482	88534											
DDN	23109	broad.mit.edu	37	chr12	49391874	49391874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccctccgtctgtcctgGctggagtcgcagctggggct	15	14	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:49391874G>A	uc001rsv.1	-	2	803	c.785C>T	c.(784-786)GCC>GTC	p.A262V	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	262						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						GTCTGTCCTGGCTGGAGTCGC	0.637													A	49391874	G	A	49391874	3	1	161	1	0	0	0	0	1	0	0	0	4333	1203	42	2	1354	2	DDN	12	49391874	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4223318	49391874	84460021	483	88535											
MLL2	8085	broad.mit.edu	37	chr12	49435457	49435457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgcaccttgttgatgCggtgagctgcccggttatct	11	12	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:49435457C>T	uc001rta.3	-	30	6215	c.6215G>A	c.(6214-6216)CGC>CAC	p.R2072H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2072					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTTGTTGATGCGGTGAGCTGC	0.607			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49435457	C	T	49435457	3	4	161	1	0	0	0	0	1	0	0	0	9621	768	27	1	10498	1	MLL2	12	49435457	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	43583	49435457	84416438	484	88536											
KCNH3	23416	broad.mit.edu	37	chr12	49948320	49948320	+	Frame_Shift_Del	DEL	G	G	-													tcagctacaacctgggtgctGggggaggctctgcagaggtg					rs143761616		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:49948320delG	uc001ruh.1	+	11	2379	c.2119delG	c.(2119-2121)GGGfs	p.G707fs	KCNH3_uc010smj.1_Frame_Shift_Del_p.G647fs	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	707	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CCTGGGTGCTGGGGGAGGCTC	0.657													-	49948320	G	-	49948320	7	5	161	1	0	1	0	1	0	0	0	0	8033	1348	47	0	2161	0	KCNH3	12	49948320	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	512863	49948320	83903575	485	88537											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-													agtcagagaccaccagctatCccccccatgccacctggcat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	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						CCACCAGCTATCCCCCCCATG	0.607													-	50025258	C	-	50025258	7	5	161	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	76938	50025258	83826637	486	88538											
ACCN2	41	broad.mit.edu	37	chr12	50472315	50472315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcatcgactgtgagacgCgctacctggtggagaactgc	14	12	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:50472315C>T	uc001rvw.2	+	6	1178	c.949C>T	c.(949-951)CGC>TGC	p.R317C	ACCN2_uc001rvv.2_Missense_Mutation_p.R317C|ACCN2_uc009zln.2_Missense_Mutation_p.R108C|ACCN2_uc009zlo.2_Missense_Mutation_p.R317C	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	317	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	CTGTGAGACGCGCTACCTGGT	0.612													T	50472315	C	T	50472315	3	4	161	1	0	0	0	0	1	0	0	0	129	768	27	1	967	1	ACCN2	12	50472315	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	447057	50472315	83379580	487	88539											
KRT83	3889	broad.mit.edu	37	chr12	52714736	52714736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatccaggacgacacccacCttgtcgatgaaggccgcgaa	11	13	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:52714736C>A	uc001saf.2	-	1	447	c.384G>T	c.(382-384)AAG>AAT	p.K128N		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	128	Rod.|Coil 1A.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGACACCCACCTTGTCGATGA	0.562													A	52714736	C	A	52714736	3	1	161	1	0	0	0	0	1	0	0	0	8497	695	24	5	1133	5	KRT83	12	52714736	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2242421	52714736	81137159	488	88540											
KRT4	3851	broad.mit.edu	37	chr12	53207948	53207948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcctggagcagcagggCttggttgcaggggcataaag	16	7	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:53207948C>T	uc001saz.2	-	1	388	c.117G>A	c.(115-117)AAG>AAA	p.K39K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	Error:Variant_position_missing_in_B4DRS2_after_alignment						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						AGCAGCAGGGCTTGGTTGCAG	0.567													T	53207948	C	T	53207948	2	4	161	1	0	0	0	0	0	0	0	1	8477	796	28	2		2	KRT4	12	53207948	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	493212	53207948	80643947	489	88541											
NCKAP1L	3071	broad.mit.edu	37	chr12	54911711	54911711	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatgctcttgtgctcagtGacatcattcaggtatgatat	9	7	4	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:54911711G>A	uc001sgc.3	+	13	1406	c.1327G>A	c.(1327-1329)GAC>AAC	p.D443N	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.D393N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	443					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			ovary(3)|central_nervous_system(1)	4						TGTGCTCAGTGACATCATTCA	0.403													A	54911711	G	A	54911711	3	1	161	1	0	0	0	0	1	0	0	0	10222	1290	45	4	1377	4	NCKAP1L	12	54911711	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1703763	54911711	78940184	490	88542											
ZC3H10	84872	broad.mit.edu	37	chr12	56514888	56514888	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctcaacaggctcagTcctcccaggacgacgtcatg	13	13	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:56514888T>C	uc001sjp.1	+	3	731	c.542T>C	c.(541-543)GTC>GCC	p.V181A		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	181							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ACAGGCTCAGTCCTCCCAGGA	0.572													C	56514888	T	C	56514888	3	2	161	1	0	0	0	0	1	0	0	0	17556	1667	58	3	544	3	ZC3H10	12	56514888	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1603177	56514888	77337007	491	88543											
TIMELESS	8914	broad.mit.edu	37	chr12	56817448	56817448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctcctcctcCtcttcttcttcctctgcccc	1	23	5	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:56817448C>T	uc001slf.2	-	17	2178	c.2010G>A	c.(2008-2010)GAG>GAA	p.E670E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	670	Glu-rich.				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				ovary(5)|breast(2)|pancreas(1)	8						cctcctcctcctcttcttctt	0.418													T	56817448	C	T	56817448	2	4	161	1	0	0	0	0	0	0	0	1	15901	680	24	4		4	TIMELESS	12	56817448	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	302560	56817448	77034447	492	88544											
NAB2	4665	broad.mit.edu	37	chr12	57485177	57485177	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcagtcaaccagtgcCtgctgttcccgtctccagca	8	16	4	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:57485177C>A	uc001smz.2	+	2	731	c.353C>A	c.(352-354)CCT>CAT	p.P118H		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	118					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CAACCAGTGCCTGCTGTTCCC	0.612													A	57485177	C	A	57485177	3	1	161	1	0	0	0	0	1	0	0	0	10132	681	24	5	359	5	NAB2	12	57485177	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	667729	57485177	76366718	493	88545											
SHMT2	6472	broad.mit.edu	37	chr12	57627591	57627591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaagggcctggatggagctCgggctgagcgggtgctagag	19	9	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:57627591C>T	uc001snf.1	+	10	1193	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	SHMT2_uc001sng.1_Missense_Mutation_p.R291W|SHMT2_uc001snh.1_Missense_Mutation_p.R234W|SHMT2_uc009zpk.1_Missense_Mutation_p.R385W|SHMT2_uc001sni.1_Missense_Mutation_p.R374W|SHMT2_uc010srg.1_Missense_Mutation_p.R404W|SHMT2_uc001snj.1_Missense_Mutation_p.R299W|SHMT2_uc010srh.1_Missense_Mutation_p.R374W|SHMT2_uc001snk.1_Missense_Mutation_p.R299W|SHMT2_uc010sri.1_Missense_Mutation_p.R374W|SHMT2_uc001snl.2_Missense_Mutation_p.R299W|SHMT2_uc010srj.1_Missense_Mutation_p.R50W	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	395						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGATGGAGCTCGGGCTGAGCG	0.612													T	57627591	C	T	57627591	3	4	161	1	0	0	0	0	1	0	0	0	14286	875	31	1	1221	1	SHMT2	12	57627591	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	142414	57627591	76224304	494	88546											
MBD6	114785	broad.mit.edu	37	chr12	57919678	57919678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgggaggggcccccacGgtggaggggcctggggcacc	19	15	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:57919678G>A	uc001soj.1	+	6	1151	c.927G>A	c.(925-927)ACG>ACA	p.T309T	MBD6_uc001sok.1_Silent_p.T176T|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	309	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						GGGCCCCCACGGTGGAGGGGC	0.672													A	57919678	G	A	57919678	2	1	161	1	0	0	0	0	0	0	0	1	9348	1103	39	1		1	MBD6	12	57919678	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	292087	57919678	75932217	495	88547											
C12orf56	115749	broad.mit.edu	37	chr12	64664463	64664463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaaagacccctcaccActtgtttcacaatactggcc	6	14	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:64664463A>G	uc001ssa.3	-	10	1136	c.1136T>C	c.(1135-1137)GTG>GCG	p.V379A	uc001srx.2_Intron|C12orf56_uc001sry.2_Missense_Mutation_p.V121A|C12orf56_uc001srz.2_Missense_Mutation_p.V21A	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	542											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACCCCTCACCACTTGTTTCAC	0.463													G	64664463	A	G	64664463	3	3	161	1	0	0	0	0	1	0	0	0	1700	159	6	3	260	3	C12orf56	12	64664463	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	6744785	64664463	69187432	496	88548											
FGD6	55785	broad.mit.edu	37	chr12	95486597	95486599	+	In_Frame_Del	DEL	CTT	CTT	-													cttcgatccaagaggactaaCttcttctttattttctgagt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:95486597_95486599delCTT	uc001tdp.3	-	16	3847_3849	c.3623_3625delAAG	c.(3622-3627)GAAGTT>GTT	p.E1208del	FGD6_uc009zsx.2_In_Frame_Del_p.E341del|FGD6_uc001tdq.1_In_Frame_Del_p.E244del	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1208					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			ovary(2)|breast(1)	3						AGAGGACTAACTTCTTCTTTATT	0.463													-	95486599	CTT	-	95486597	7	5	161	1	0	1	0	1	0	0	0	0	5837	565	20	0	691	0	FGD6	12	95486597	In_Frame_Del	DEL	CTT	TCGA-CD-A4MJ-01A-11D-A25D-08	30822134	95486597	38365298	497	88549											
PAH	5053	broad.mit.edu	37	chr12	103249064	103249064	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaacactgtgccccatgTtttcttttcttcctccatgt	5	13	2	1	rs62507328		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:103249064T>G	uc001tjq.1	-	7	1028	c.556A>C	c.(556-558)ACA>CCA	p.T186P	PAH_uc010swc.1_Missense_Mutation_p.T186P	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	186					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGCCCCATGTTTTCTTTTCT	0.458													G	103249064	T	G	103249064	3	3	161	1	0	0	0	0	1	0	0	0	11394	1725	60	5	834	5	PAH	12	103249064	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	7762467	103249064	30602831	498	88550											
CRY1	1407	broad.mit.edu	37	chr12	107393531	107393531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgaacacagatagggTttccttccattttatcaaag	7	8	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:107393531T>G	uc001tmi.3	-	7	1794	c.935A>C	c.(934-936)AAC>ACC	p.N312T		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	312	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						ACAGATAGGGTTTCCTTCCAT	0.448													G	107393531	T	G	107393531	3	3	161	1	0	0	0	0	1	0	0	0	3903	1725	60	5	849	5	CRY1	12	107393531	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	4144467	107393531	26458364	499	88551											
WSCD2	9671	broad.mit.edu	37	chr12	108626520	108626520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttcagacaaccgttgcaTggacagaaggttcctgccag	10	11	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:108626520T>C	uc001tms.2	+	7	1736	c.992T>C	c.(991-993)ATG>ACG	p.M331T	WSCD2_uc001tmt.2_Missense_Mutation_p.M331T|WSCD2_uc001tmu.2_Missense_Mutation_p.M79T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	331						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AACCGTTGCATGGACAGAAGG	0.333													C	108626520	T	C	108626520	3	2	161	1	0	0	0	0	1	0	0	0	17404	1464	51	3	1014	3	WSCD2	12	108626520	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1232989	108626520	25225375	500	88552											
SSH1	54434	broad.mit.edu	37	chr12	109182492	109182492	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatggactcctggtgctGcatcaggtagctgttggttg	14	7	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:109182492G>A	uc001tnm.2	-	15	2509	c.2422C>T	c.(2422-2424)CAG>TAG	p.Q808*	SSH1_uc001tnl.2_Nonsense_Mutation_p.Q496*	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	808					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			ovary(4)	4						TCCTGGTGCTGCATCAGGTAG	0.542													A	109182492	G	A	109182492	4	1	161	1	0	0	0	0	0	1	0	0	15183	1328	46	2	731	2	SSH1	12	109182492	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	555972	109182492	24669403	501	88553											
UNG	7374	broad.mit.edu	37	chr12	109539760	109539760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggacctaatcaagctcaCgggctctgctttagtgttca	9	11	4	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:109539760C>A	uc001tnz.1	+	4	559	c.489C>A	c.(487-489)CAC>CAA	p.H163Q	UNG_uc001toa.1_Missense_Mutation_p.H154Q	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	163					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			lung(1)|central_nervous_system(1)	2						ATCAAGCTCACGGGCTCTGCT	0.488								BER_DNA_glycosylases	Immune_Deficiency_with_Hyper-IgM				A	109539760	C	A	109539760	3	1	161	1	0	0	0	0	1	0	0	0	16996	535	19	5	608	5	UNG	12	109539760	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	357268	109539760	24312135	502	88554											
IFT81	28981	broad.mit.edu	37	chr12	110600774	110600774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagctgaggaacttcaggaGgccaaggagaagttagccag	14	7	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:110600774G>T	uc001tqi.2	+	11	1222	c.1092G>T	c.(1090-1092)GAG>GAT	p.E364D	IFT81_uc001tqh.2_Missense_Mutation_p.E364D|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.E364D	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	364	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						AACTTCAGGAGGCCAAGGAGA	0.388													T	110600774	G	T	110600774	3	4	161	1	0	0	0	0	1	0	0	0	7565	991	35	5	1130	5	IFT81	12	110600774	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1061014	110600774	23251121	503	88555											
SRRM4	84530	broad.mit.edu	37	chr12	119592154	119592154	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaagcgccggagagacTccccgagccacctggaggcc	14	14	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:119592154T>A	uc001txa.1	+	12	1790	c.1498T>A	c.(1498-1500)TCC>ACC	p.S500T		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	500	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CCGGAGAGACTCCCCGAGCCA	0.627													A	119592154	T	A	119592154	3	1	161	1	0	0	0	0	1	0	0	0	15170	1551	54	5	1544	5	SRRM4	12	119592154	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	8991380	119592154	14259741	504	88556											
COQ5	84274	broad.mit.edu	37	chr12	120954554	120954554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgttttctctgatgctgGgactgaacataattaaggaa	9	6	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:120954554G>A	uc001tyn.2	-	3	410	c.390C>T	c.(388-390)TCC>TCT	p.S130S	COQ5_uc001tyo.2_Silent_p.S49S|COQ5_uc010szj.1_Intron	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	130					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGATGCTGGGACTGAACAT	0.418													A	120954554	G	A	120954554	2	1	161	1	0	0	0	0	0	0	0	1	3748	1219	43	4		4	COQ5	12	120954554	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1362400	120954554	12897341	505	88557											
IL31	386653	broad.mit.edu	37	chr12	122657233	122657233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcggctgggcgtcagggCtgagacacggcagcgtgtaa	18	9	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:122657233C>A	uc001ubv.2	-	3	248	c.221G>T	c.(220-222)AGC>ATC	p.S74I	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	74						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCGTCAGGGCTGAGACACGG	0.522													A	122657233	C	A	122657233	3	1	161	1	0	0	0	0	1	0	0	0	7690	797	28	5	277	5	IL31	12	122657233	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1702679	122657233	11194662	506	88558											
GPR81	27198	broad.mit.edu	37	chr12	123214864	123214864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggtgtccccctcgatgCggcagcacgacccgttgtac	12	14	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:123214864C>T	uc001ucz.2	-	1	266	c.23G>A	c.(22-24)CGC>CAC	p.R8H	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	8	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCCCTCGATGCGGCAGCACGA	0.622													T	123214864	C	T	123214864	3	4	161	1	0	0	0	0	1	0	0	0	6711	768	27	1	1021	1	GPR81	12	123214864	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	557631	123214864	10637031	507	88559											
VPS37B	79720	broad.mit.edu	37	chr12	123351918	123351918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgcgccgaggtgcaacGgcaggaggcccactggcctc	17	13	0	0	rs138907975	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:123351918G>A	uc001udl.2	-	4	706	c.603C>T	c.(601-603)GCC>GCT	p.A201A		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	201	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	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)		GAGGTGCAACGGCAGGAGGCC	0.731													A	123351918	G	A	123351918	2	1	161	1	0	0	0	0	0	0	0	1	17203	1103	39	1		1	VPS37B	12	123351918	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	137054	123351918	10499977	508	88560											
SETD8	387893	broad.mit.edu	37	chr12	123875278	123875278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaactcagttacacaTcacgaagtcaaatgccaggg	10	9	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:123875278T>C	uc001uew.2	+	3	276	c.234T>C	c.(232-234)CAT>CAC	p.H78H	SETD8_uc001uex.2_Silent_p.H13H	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CAGTTACACATCACGAAGTCA	0.478													C	123875278	T	C	123875278	2	2	161	1	0	0	0	0	0	0	0	1	14137	1432	50	3		3	SETD8	12	123875278	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	523360	123875278	9976617	509	88561											
DHX37	57647	broad.mit.edu	37	chr12	125451349	125451349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgtacctcagcccgcGccttcttggccctggccctt	8	21	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:125451349G>A	uc001ugy.2	-	12	1679	c.1580C>T	c.(1579-1581)GCG>GTG	p.A527V		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	527	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	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)		CTCAGCCCGCGCCTTCTTGGC	0.443													A	125451349	G	A	125451349	3	1	161	1	0	0	0	0	1	0	0	0	4510	1087	38	1	1957	1	DHX37	12	125451349	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1576071	125451349	8400546	510	88562											
AACS	65985	broad.mit.edu	37	chr12	125603191	125603191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgtctttgcaggtcgGctggatgatgtggaactgga	14	9	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:125603191G>A	uc001uhc.2	+	10	1207	c.1001G>A	c.(1000-1002)GGC>GAC	p.G334D	AACS_uc001uhd.2_Missense_Mutation_p.G334D|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	334					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTGCAGGTCGGCTGGATGATG	0.642													A	125603191	G	A	125603191	3	1	161	1	0	0	0	0	1	0	0	0	9	1203	42	2	1039	2	AACS	12	125603191	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	151842	125603191	8248704	511	88563											
TMEM132D	121256	broad.mit.edu	37	chr12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-													ctcctcccggcaaccaccgtGggggggctgaaccagctgga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:130184704_130184704TG>T	uc009zyl.1	-	1	947	c.619_619CA>A	c.(619-621)acgfs	p.T207fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	207						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)		GCAACCACCGTGGGGGGGCTG	0.711													-	130184705	G	-	130184705	7	5	161	1	0	1	0	1	0	0	0	0	16044	1335	47	0	2713	0	TMEM132D	12	130184705	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4581514	130184705	3667190	512	88564											
RIMBP2	23504	broad.mit.edu	37	chr12	130929709	130929709	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttccaacagagaccttcAtagaacccatcctcatccat	4	14	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:130929709A>T	uc001uil.2	-	7	800	c.636T>A	c.(634-636)TAT>TAA	p.Y212*	RIMBP2_uc001uim.2_Nonsense_Mutation_p.Y120*|RIMBP2_uc001uin.1_5'Flank	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	212	SH3 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		AGAGACCTTCATAGAACCCAT	0.592													T	130929709	A	T	130929709	4	4	161	1	0	0	0	0	0	1	0	0	13363	224	8	5	2574	5	RIMBP2	12	130929709	Nonsense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	745004	130929709	2922186	513	88565											
MMP17	4326	broad.mit.edu	37	chr12	132334532	132334532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgaggcacatggaccccGgctaccccgcccagagcccc	10	20	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:132334532G>A	uc001ujc.1	+	9	1489	c.1390G>A	c.(1390-1392)GGC>AGC	p.G464S	MMP17_uc001ujd.1_Missense_Mutation_p.G380S	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	464	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CATGGACCCCGGCTACCCCGC	0.647													A	132334532	G	A	132334532	3	1	161	1	0	0	0	0	1	0	0	0	9656	1116	39	1	1424	1	MMP17	12	132334532	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1404823	132334532	1517363	514	88566											
NOC4L	79050	broad.mit.edu	37	chr12	132636060	132636060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctggtggccgccttcGccaagcggctggcccgcctg	13	18	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:132636060G>A	uc001ujz.1	+	12	1146	c.1105G>A	c.(1105-1107)GCC>ACC	p.A369T		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	369					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GGCCGCCTTCGCCAAGCGGCT	0.721													A	132636060	G	A	132636060	3	1	161	1	0	0	0	0	1	0	0	0	10515	1087	38	1	1151	1	NOC4L	12	132636060	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	301528	132636060	1215835	515	88567											
GOLGA3	2802	broad.mit.edu	37	chr12	133372463	133372463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggatttgatagctaattctTctcttaacttctctaaagtt	5	8	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:133372463T>C	uc001ukz.1	-	11	3003	c.2444A>G	c.(2443-2445)GAA>GGA	p.E815G	GOLGA3_uc001ula.1_Missense_Mutation_p.E815G|GOLGA3_uc001ulb.2_Missense_Mutation_p.E815G	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	815	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		AGCTAATTCTTCTCTTAACTT	0.438													C	133372463	T	C	133372463	3	2	161	1	0	0	0	0	1	0	0	0	6554	1783	62	3	2246	3	GOLGA3	12	133372463	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	736403	133372463	479432	516	88568											
XPO4	64328	broad.mit.edu	37	chr13	21371027	21371027	+	Frame_Shift_Del	DEL	A	A	-													aattggtaaggaagtccattAaaaaattaaacaggattgct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:21371026_21371026TA>T	uc001unq.4	-	16	2529	c.2493_2493TA>A	c.(2491-2493)ttafs	p.L831fs		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	831					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)		GGAAGTCCATTAAAAAATTAA	0.408													-	21371027	A	-	21371027	7	5	161	1	0	1	0	1	0	0	0	0	17443	372	13	0	991	0	XPO4	13	21371027	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08		21371027	93798851	517	88569											
RNF17	56163	broad.mit.edu	37	chr13	25425604	25425604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactacaggaaaacaacaCaacatggccattacctgtga	6	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:25425604C>T	uc001upr.2	+	24	3256	c.3215C>T	c.(3214-3216)ACA>ATA	p.T1072I	RNF17_uc010tdd.1_Missense_Mutation_p.T931I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.T1068I|RNF17_uc001ups.2_Missense_Mutation_p.T1011I|RNF17_uc010aac.2_Missense_Mutation_p.T270I|RNF17_uc010aad.2_Missense_Mutation_p.T124I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1072					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		GAAAACAACACAACATGGCCA	0.338													T	25425604	C	T	25425604	3	4	161	1	0	0	0	0	1	0	0	0	13461	478	17	4	3309	4	RNF17	13	25425604	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4054577	25425604	89744274	518	88570											
RNF17	56163	broad.mit.edu	37	chr13	25444862	25444862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaggcgcttcctcctctgAcggattttagaacaggtata	10	9	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:25444862A>G	uc001upr.2	+	32	4473	c.4432A>G	c.(4432-4434)ACG>GCG	p.T1478A	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.T1474A|RNF17_uc001ups.2_Missense_Mutation_p.T1417A|RNF17_uc010aac.2_Missense_Mutation_p.T670A|RNF17_uc010aad.2_Missense_Mutation_p.T488A	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1478					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		TCCTCCTCTGACGGATTTTAG	0.423													G	25444862	A	G	25444862	3	3	161	1	0	0	0	0	1	0	0	0	13461	275	10	3	4558	3	RNF17	13	25444862	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	19258	25444862	89725016	519	88571											
BRCA2	675	broad.mit.edu	37	chr13	32937540	32937540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttaaggcccagttagatcCtcccctcttagctgtcttaa	7	12	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:32937540C>A	uc001uub.1	+	18	8428	c.8201C>A	c.(8200-8202)CCT>CAT	p.P2734H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2734					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		CAGTTAGATCCTCCCCTCTTA	0.443			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32937540	C	A	32937540	3	1	161	1	0	0	0	0	1	0	0	0	1499	681	24	5	8267	5	BRCA2	13	32937540	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	7492678	32937540	82232338	520	88572											
NBEA	26960	broad.mit.edu	37	chr13	35738543	35738543	+	Frame_Shift_Del	DEL	T	T	-													caatagcaatgaaaatattaTttttgtacataacacaattc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:35738543delT	uc001uvb.2	+	25	4336	c.4130delT	c.(4129-4131)ATTfs	p.I1377fs	NBEA_uc010abi.2_Frame_Shift_Del_p.I68fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1377						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		GAAAATATTATTTTTGTACAT	0.328													-	35738543	T	-	35738543	7	5	161	1	0	1	0	1	0	0	0	0	10187	1493	52	0	4224	0	NBEA	13	35738543	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2801003	35738543	79431335	521	88573											
ALG5	29880	broad.mit.edu	37	chr13	37567776	37567776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttactgccatcatcaactaCtatcacttcataagtgaacg	4	11	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:37567776C>T	uc001uvy.2	-	4	386	c.319G>A	c.(319-321)GTA>ATA	p.V107I	ALG5_uc010teq.1_Intron|ALG5_uc010ter.1_RNA	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	dolichyl-phosphate beta-glucosyltransferase	107	Lumenal (Potential).				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				0		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)		TCATCAACTACTATCACTTCA	0.318													T	37567776	C	T	37567776	3	4	161	1	0	0	0	0	1	0	0	0	521	565	20	4	683	4	ALG5	13	37567776	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1829233	37567776	77602102	522	88574											
ZC3H13	23091	broad.mit.edu	37	chr13	46543969	46543969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcctgttcttcgtagcGccttgaactctctttccttt	7	12	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:46543969G>A	uc010tfw.1	-	13	2716	c.2710C>T	c.(2710-2712)CGC>TGC	p.R904C	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R904C|ZC3H13_uc001vat.1_Missense_Mutation_p.R904C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	904							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TCTTCGTAGCGCCTTGAACTC	0.453													A	46543969	G	A	46543969	3	1	161	1	0	0	0	0	1	0	0	0	17562	1087	38	1	2000	1	ZC3H13	13	46543969	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	8976193	46543969	68625909	523	88575											
WDFY2	115825	broad.mit.edu	37	chr13	52332350	52332350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacccacagccaccttcCatgacagtaaacataacatt	5	14	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:52332350C>T	uc001vfp.2	+	11	1427	c.1087C>T	c.(1087-1089)CAT>TAT	p.H363Y		NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	363							metal ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGCCACCTTCCATGACAGTAA	0.443													T	52332350	C	T	52332350	3	4	161	1	0	0	0	0	1	0	0	0	17266	594	21	4	1129	4	WDFY2	13	52332350	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5788381	52332350	62837528	524	88576											
NEK5	341676	broad.mit.edu	37	chr13	52686430	52686430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactaaataacacaccccGttgtctattgatccttttca	3	12	3	1	rs147607303	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:52686430G>A	uc001vge.2	-	5	426	c.286C>T	c.(286-288)CGG>TGG	p.R96W	NEK5_uc001vgf.2_Missense_Mutation_p.R96W	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	96	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		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)		AACACACCCCGTTGTCTATTG	0.353													A	52686430	G	A	52686430	3	1	161	1	0	0	0	0	1	0	0	0	10327	1144	40	1	1912	1	NEK5	13	52686430	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	354080	52686430	62483448	525	88577											
SLITRK1	114798	broad.mit.edu	37	chr13	84455330	84455331	+	Frame_Shift_Ins	INS	-	-	C													agccttttcaccagctgcagINSccccagaaaagcccccggaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:84455330_84455331insC	uc001vlk.2	-	1	1198_1199	c.312_313insG	c.(310-315)GGGCTGfs	p.G104fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	104_105	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCAGCTGCAGCCCCAGAAAAG	0.46													C	84455331	-	C	84455330	7	5	161	1	0	1	1	0	0	0	0	0	14742	962	34	0	1781	0	SLITRK1	13	84455330	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	31768900	84455330	30714548	526	88578	435	2									
SLITRK1	114798	broad.mit.edu	37	chr13	84455331	84455332	+	Frame_Shift_Ins	INS	-	-	C													gccttttcaccagctgcagcINScccagaaaagcccccggaac							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:84455330_84455331G>GC	uc001vlk.3	-	0	1198_1199	c.312_313C>GC	c.(310-315)gggctgfs	p.G104fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	104						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)		ACCAGCTGCAGCCCCAGAAAAG	0.46													C	84455332	-	C	84455331	7	5	161	1	0	1	1	0	0	0	0	0	14742	726	26	0	1782	0	SLITRK1	13	84455331	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	84455331	30714547	527	88579	435	2									
SLITRK6	84189	broad.mit.edu	37	chr13	86368589	86368589	+	Frame_Shift_Del	DEL	G	G	-													cttctatagacatgaaccatGgggctcaccatgtgctgttc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:86368589delG	uc001vll.1	-	2	2514	c.2055delC	c.(2053-2055)CCCfs	p.P685fs	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	685	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CATGAACCATGGGGCTCACCA	0.453													-	86368589	G	-	86368589	7	5	161	1	0	1	0	1	0	0	0	0	14747	1335	47	0	474	0	SLITRK6	13	86368589	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1913258	86368589	28801289	528	88580											
UGGT2	55757	broad.mit.edu	37	chr13	96536889	96536889	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaagagaagaaacgtcAttagcccctgacatcagttc	9	11	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:96536889A>T	uc001vmt.2	-	27	3254	c.3084T>A	c.(3082-3084)AAT>AAA	p.N1028K	UGGT2_uc001vmu.1_Missense_Mutation_p.N115K	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1028					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AAGAAACGTCATTAGCCCCTG	0.373													T	96536889	A	T	96536889	3	4	161	1	0	0	0	0	1	0	0	0	16939	214	8	5	1518	5	UGGT2	13	96536889	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	10168300	96536889	18632989	529	88581											
C13orf27	93081	broad.mit.edu	37	chr13	103419821	103419821	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgctcttgagcccatTgaacgacctaaaatcaatta	7	11	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:103419821T>C	uc001vpo.2	-	5	484	c.306A>G	c.(304-306)TCA>TCG	p.S102S	C13orf27_uc001vpn.2_Silent_p.S61S|C13orf27_uc001vpp.2_Silent_p.S61S	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	102											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGAGCCCATTGAACGACCTA	0.378													C	103419821	T	C	103419821	2	2	161	1	0	0	0	0	0	0	0	1	1723	1799	63	3		3	C13orf27	13	103419821	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	6882932	103419821	11750057	530	88582											
RASA3	22821	broad.mit.edu	37	chr13	114762186	114762186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttggcctggatgtacagCgcacgctctggctggatgac	14	10	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:114762186C>T	uc001vui.2	-	21	2093	c.1962G>A	c.(1960-1962)GCG>GCA	p.A654A	RASA3_uc010tkk.1_Silent_p.A622A|RASA3_uc001vuj.2_Silent_p.A271A	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	654	PH.				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			lung(3)|skin(1)	4	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)			GGATGTACAGCGCACGCTCTG	0.592													T	114762186	C	T	114762186	2	4	161	1	0	0	0	0	0	0	0	1	13062	755	27	1		1	RASA3	13	114762186	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	11342365	114762186	407692	531	88583											
POTEG	404785	broad.mit.edu	37	chr14	19553819	19553819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggagccgaggtaccacGtccgtcgagaagatctggac	13	11	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:19553819G>A	uc001vuz.1	+	1	455	c.403G>A	c.(403-405)GTC>ATC	p.V135I	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	135										ovary(1)	1						GAGGTACCACGTCCGTCGAGA	0.582													A	19553819	G	A	19553819	3	1	161	1	0	0	0	0	1	0	0	0	12266	1145	40	1	405	1	POTEG	14	19553819	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		19553819	87795721	532	88584											
FLJ10357	55701	broad.mit.edu	37	chr14	21543327	21543327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggaggggccaggcctgCtgtgtatggcaggtgagatg	19	7	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:21543327C>T	uc001vzp.2	+	3	1467	c.1438C>T	c.(1438-1440)CTG>TTG	p.L480L	FLJ10357_uc001vzn.1_Silent_p.L480L|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Intron	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	480					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GCCAGGCCTGCTGTGTATGGC	0.627													T	21543327	C	T	21543327	2	4	161	1	0	0	0	0	0	0	0	1	5926	796	28	2		2	FLJ10357	14	21543327	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1989508	21543327	85806213	533	88585											
CHD8	57680	broad.mit.edu	37	chr14	21876597	21876597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagttagtaattgtggaCagtggggcaatgaccaagaa	12	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:21876597C>T	uc001was.1	-	13	1861	c.1767G>A	c.(1765-1767)CTG>CTA	p.L589L	CHD8_uc001war.1_Silent_p.L485L|CHD8_uc001wav.1_Silent_p.L31L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	868	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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TAATTGTGGACAGTGGGGCAA	0.453													T	21876597	C	T	21876597	2	4	161	1	0	0	0	0	0	0	0	1	3331	465	17	4		4	CHD8	14	21876597	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	333270	21876597	85472943	534	88586											
MYH6	4624	broad.mit.edu	37	chr14	23855225	23855225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtctgctccaccacgGcacgcagctcctccagctca	8	19	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:23855225G>A	uc001wjv.2	-	34	5142	c.5075C>T	c.(5074-5076)GCC>GTC	p.A1692V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1692	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCACCACGGCACGCAGCTC	0.652													A	23855225	G	A	23855225	3	1	161	1	0	0	0	0	1	0	0	0	10038	1203	42	2	768	2	MYH6	14	23855225	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1978628	23855225	83494315	535	88587											
REC8	9985	broad.mit.edu	37	chr14	24647332	24647332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccacctcctcgccgccgCcgtcgtcgccggttactgtt	9	21	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:24647332C>T	uc001wmr.2	+	14	1327	c.900C>T	c.(898-900)CGC>CGT	p.R300R	REC8_uc001wms.2_Silent_p.R300R	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	300	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		CTCGCCGCCGCCGTCGTCGCC	0.602													T	24647332	C	T	24647332	2	4	161	1	0	0	0	0	0	0	0	1	13199	726	26	2		2	REC8	14	24647332	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	792107	24647332	82702208	536	88588											
HECTD1	25831	broad.mit.edu	37	chr14	31590658	31590658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaggtaacagcatgatgCgttacatcagagcgggagcc	14	9	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:31590658C>T	uc001wrc.1	-	28	5658	c.5169G>A	c.(5167-5169)ACG>ACA	p.T1723T	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.T1191T	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1723					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		CAGCATGATGCGTTACATCAG	0.483													T	31590658	C	T	31590658	2	4	161	1	0	0	0	0	0	0	0	1	7039	755	27	1		1	HECTD1	14	31590658	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6943326	31590658	75758882	537	88589											
NKX2-1	7080	broad.mit.edu	37	chr14	36988386	36988386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgacggcgccgtggtgCcccacggcgtgctgctgcat	17	14	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:36988386C>T	uc001wtt.2	-	1	518	c.177G>A	c.(175-177)GGG>GGA	p.G59G	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.G89G|NKX2-1_uc001wtv.2_Silent_p.G59G|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	59					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CGCCGTGGTGCCCCACGGCGT	0.751			A		NSCLC								T	36988386	C	T	36988386	2	4	161	1	0	0	0	0	0	0	0	1	10449	726	26	2		2	NKX2-1	14	36988386	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5397728	36988386	70361154	538	88590											
FOXA1	3169	broad.mit.edu	37	chr14	38061194	38061194	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcttctcgcacttgaaGcgcttctggcggcgcaagta	13	12	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:38061194G>T	uc001wuf.2	-	2	1107	c.795C>A	c.(793-795)CGC>CGA	p.R265R	FOXA1_uc010tpz.1_Silent_p.R232R	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	265					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				0	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)		CGCACTTGAAGCGCTTCTGGC	0.517													T	38061194	G	T	38061194	2	4	161	1	0	0	0	0	0	0	0	1	5989	958	34	5		5	FOXA1	14	38061194	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1072808	38061194	69288346	539	88591											
PNN	5411	broad.mit.edu	37	chr14	39650346	39650346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtggctcaacctcagcCtcagtctcagccccagcttc	8	18	4	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:39650346C>A	uc001wuw.3	+	9	1530	c.1433C>A	c.(1432-1434)CCT>CAT	p.P478H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	478	Gln-rich.			P -> A (in Ref. 1; AAB48304).	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			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		caacctcagcctcagtctcag	0.348													A	39650346	C	A	39650346	3	1	161	1	0	0	0	0	1	0	0	0	12160	681	24	5	1467	5	PNN	14	39650346	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1589152	39650346	67699194	540	88592											
NIN	51199	broad.mit.edu	37	chr14	51224807	51224807	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcttggacatcatttcctGcctttcctggtcatgttcca	7	12	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:51224807G>A	uc001wym.2	-	18	3132	c.2941C>T	c.(2941-2943)CAG>TAG	p.Q981*	NIN_uc001wyi.2_Nonsense_Mutation_p.Q981*|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Nonsense_Mutation_p.Q987*|NIN_uc001wyo.2_Nonsense_Mutation_p.Q981*	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	981	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCATTTCCTGCCTTTCCTGG	0.547			T	PDGFRB	MPD								A	51224807	G	A	51224807	4	1	161	1	0	0	0	0	0	1	0	0	10417	1328	46	2	3664	2	NIN	14	51224807	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	11574461	51224807	56124733	541	88593											
TRIM9	114088	broad.mit.edu	37	chr14	51561516	51561516	+	Frame_Shift_Del	DEL	G	G	-													gcccgcggcccgatggctctGgggggattcagactctgggg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:51561515_51561515TG>T	uc001wyx.4	-	0	908	c.143_143CA>A	c.(142-144)cagfs	p.Q48fs	TRIM9_uc001wyy.2_Frame_Shift_Del_p.Q48fs|TRIM9_uc001wyz.4_Frame_Shift_Del_p.Q48fs	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	48					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)					CCGATGGCTCTGGGGGGATTC	0.612													-	51561516	G	-	51561516	7	5	161	1	0	1	0	1	0	0	0	0	16546	1357	47	0	2080	0	TRIM9	14	51561516	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	336709	51561516	55788024	542	88594											
NID2	22795	broad.mit.edu	37	chr14	52507378	52507378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatacatactggagtcggAgtagtggtacagctccttgt	12	7	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:52507378A>G	uc001wzo.2	-	8	2251	c.2017T>C	c.(2017-2019)TCC>CCC	p.S673P	NID2_uc010tqs.1_Missense_Mutation_p.S673P|NID2_uc010tqt.1_Missense_Mutation_p.S673P|NID2_uc001wzp.2_Missense_Mutation_p.S673P	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	673	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGAGTCGGAGTAGTGGTAC	0.289													G	52507378	A	G	52507378	3	3	161	1	0	0	0	0	1	0	0	0	10415	304	11	3	2170	3	NID2	14	52507378	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	945862	52507378	54842162	543	88595											
DACT1	51339	broad.mit.edu	37	chr14	59112582	59112582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctgaacaatgggacattctCcccaccgaagcagtggtcga	10	12	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:59112582C>A	uc001xdw.2	+	4	1405	c.1241C>A	c.(1240-1242)TCC>TAC	p.S414Y	DACT1_uc010trv.1_Missense_Mutation_p.S133Y|DACT1_uc001xdx.2_Missense_Mutation_p.S377Y|DACT1_uc010trw.1_Missense_Mutation_p.S133Y	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	414					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GGGACATTCTCCCCACCGAAG	0.587													A	59112582	C	A	59112582	3	1	161	1	0	0	0	0	1	0	0	0	4222	855	30	5	1255	5	DACT1	14	59112582	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6605204	59112582	48236958	544	88596											
SYNE2	23224	broad.mit.edu	37	chr14	64692209	64692209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccggtccttttaccccAtgctgaggtacaccaatggg	10	13	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:64692209A>G	uc001xgm.2	+	115	20853	c.20623A>G	c.(20623-20625)ATG>GTG	p.M6875V	SYNE2_uc001xgl.2_Missense_Mutation_p.M6897V|SYNE2_uc010apy.2_Missense_Mutation_p.M3260V|SYNE2_uc001xgn.2_Missense_Mutation_p.M1836V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M845V|SYNE2_uc001xgq.2_Missense_Mutation_p.M1254V|SYNE2_uc001xgr.2_Missense_Mutation_p.M658V|SYNE2_uc010tsi.1_Missense_Mutation_p.M532V|SYNE2_uc001xgs.2_Missense_Mutation_p.M546V|SYNE2_uc001xgt.2_Missense_Mutation_p.M419V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6875	Perinuclear space (Potential).|KASH.				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTTTACCCCATGCTGAGGTA	0.488													G	64692209	A	G	64692209	3	3	161	1	0	0	0	0	1	0	0	0	15443	217	8	3	21192	3	SYNE2	14	64692209	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	5579627	64692209	42657331	545	88597											
ESR2	2100	broad.mit.edu	37	chr14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacttcgtaacacttcCgaagtcggcaggcctggcag	10	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:64735545C>T	uc001xha.1	-	4	1088	c.620G>A	c.(619-621)CGG>CAG	p.R207Q	ESR2_uc001xgu.2_Missense_Mutation_p.R207Q|ESR2_uc001xgv.2_Missense_Mutation_p.R207Q|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.R207Q|ESR2_uc001xgy.1_Missense_Mutation_p.R207Q|ESR2_uc001xgz.1_Missense_Mutation_p.R207Q|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R207Q	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	207	NR C4-type.|Nuclear receptor.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.448													T	64735545	C	T	64735545	3	4	161	1	0	0	0	0	1	0	0	0	5257	652	23	1	1082	1	ESR2	14	64735545	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	43336	64735545	42613995	546	88598											
C14orf169	79697	broad.mit.edu	37	chr14	73958571	73958571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccggccgcgcgctgcccGccgccgcgtggtccctgtac	13	21	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:73958571G>A	uc001xok.1	+	3	929	c.850G>A	c.(850-852)GCC>ACC	p.A284T	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	284					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		CGCGCTGCCCGCCGCCGCGTG	0.652													A	73958571	G	A	73958571	3	1	161	1	0	0	0	0	1	0	0	0	1758	1074	38	1	851	1	C14orf169	14	73958571	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	9223026	73958571	33390969	547	88599											
C14orf169	79697	broad.mit.edu	37	chr14	73958594	73958594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgtggtccctgtaccaGgccggctgctccctgcgtct	13	17	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:73958594G>T	uc001xok.1	+	3	952	c.873G>T	c.(871-873)CAG>CAT	p.Q291H	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	291					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		CCCTGTACCAGGCCGGCTGCT	0.642													T	73958594	G	T	73958594	3	4	161	1	0	0	0	0	1	0	0	0	1758	1000	35	5	874	5	C14orf169	14	73958594	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	23	73958594	33390946	548	88600											
PNMA1	9240	broad.mit.edu	37	chr14	74179511	74179512	+	Frame_Shift_Del	DEL	TC	TC	-													atctttatcaatggccccctTctctaccaccttctgtagca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:74179510_74179511TTC>T	uc001xor.1	-	0	1618_1619	c.832_833GAA>A	c.(832-834)aagfs	p.K278fs		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA.	278					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)		aatggcccccttctctaccacc	0.53													-	74179512	TC	-	74179511	7	5	161	1	0	1	0	1	0	0	0	0	12153	1792	62	0	233	0	PNMA1	14	74179511	Frame_Shift_Del	DEL	TC	TCGA-CD-A4MJ-01A-11D-A25D-08	220917	74179511	33170029	549	88601											
C14orf45	80127	broad.mit.edu	37	chr14	74489628	74489628	+	Frame_Shift_Del	DEL	A	A	-													ttcccatgcaggaagttaatAaaaacagatgaatctgtggt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:74489628delA	uc010tup.1	+	2	189	c.66delA	c.(64-66)ATAfs	p.I22fs		NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	22											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		GGAAGTTAATAAAAACAGATG	0.368													-	74489628	A	-	74489628	7	5	161	1	0	1	0	1	0	0	0	0	1775	352	13	0	72	0	C14orf45	14	74489628	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	310117	74489628	32859912	550	88602											
ESRRB	2103	broad.mit.edu	37	chr14	76905939	76905939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctacgaggactgtgccagCggcatcatggaggactcggc	15	11	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:76905939C>T	uc001xsq.1	+	2	310	c.243C>T	c.(241-243)AGC>AGT	p.S81S	ESRRB_uc001xsr.2_Silent_p.S81S|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	81						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACTGTGCCAGCGGCATCATGG	0.652													T	76905939	C	T	76905939	2	4	161	1	0	0	0	0	0	0	0	1	5261	767	27	1		1	ESRRB	14	76905939	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2416311	76905939	30443601	551	88603											
VASH1	22846	broad.mit.edu	37	chr14	77229171	77229171	+	Frame_Shift_Del	DEL	G	G	-													tcgaagatttagggatgccaGgggggaagaaggtggctggg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:77229171delG	uc001xst.2	+	1	937	c.7delG	c.(7-9)GGGfs	p.G3fs	VASH1_uc001xss.2_Frame_Shift_Del_p.G3fs	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					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					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647													-	77229171	G	-	77229171	7	5	161	1	0	1	0	1	0	0	0	0	17122	1000	35	0	9	0	VASH1	14	77229171	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	323232	77229171	30120369	552	88604											
CCDC88C	440193	broad.mit.edu	37	chr14	91806315	91806315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagctcctccggagccacGtcgggcagctccagccactg	11	18	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:91806315G>A	uc010aty.2	-	7	636	c.537C>T	c.(535-537)GAC>GAT	p.D179D	CCDC88C_uc010twk.1_Silent_p.D143D	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	179					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			ovary(3)	3		all_cancers(154;0.0468)				CCGGAGCCACGTCGGGCAGCT	0.677													A	91806315	G	A	91806315	2	1	161	1	0	0	0	0	0	0	0	1	2865	1136	40	1		1	CCDC88C	14	91806315	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	14577144	91806315	15543225	553	88605											
CKB	1152	broad.mit.edu	37	chr14	103988703	103988703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcggcgtgctcttggcgCgcagctccgcgtacagctcg	14	16	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:103988703C>T	uc001ynf.1	-	2	208	c.128G>A	c.(127-129)CGC>CAC	p.R43H	CKB_uc001yne.1_5'Flank|CKB_uc010awr.1_Intron	NM_001823	NP_001814	P12277	KCRB_HUMAN	brain creatine kinase	43	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity				0		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCTCTTGGCGCGCAGCTCCGC	0.602													T	103988703	C	T	103988703	3	4	161	1	0	0	0	0	1	0	0	0	3446	768	27	1	1045	1	CKB	14	103988703	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	12182388	103988703	3360837	554	88606											
AHNAK2	113146	broad.mit.edu	37	chr14	105411498	105411498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagacacctccacatcAgggactgtcacttccgcctt	9	15	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:105411498A>G	uc010axc.1	-	7	10410	c.10290T>C	c.(10288-10290)CCT>CCC	p.P3430P	AHNAK2_uc001ypx.2_Silent_p.P3330P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3430						nucleus				ovary(1)	1		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)			CCTCCACATCAGGGACTGTCA	0.622													G	105411498	A	G	105411498	2	3	161	1	0	0	0	0	0	0	0	1	415	175	7	3		3	AHNAK2	14	105411498	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1422795	105411498	1938042	555	88607											
JAG2	3714	broad.mit.edu	37	chr14	105617714	105617714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccggccgcacacgggttCgaagcacactcatcgatgtc	10	16	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:105617714C>T	uc001yqg.2	-	9	1577	c.1173G>A	c.(1171-1173)TCG>TCA	p.S391S	JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Silent_p.S391S	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	391	EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).				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			lung(3)|breast(2)	5		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)		CACACGGGTTCGAAGCACACT	0.652													T	105617714	C	T	105617714	2	4	161	1	0	0	0	0	0	0	0	1	7935	871	31	1		1	JAG2	14	105617714	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	206216	105617714	1731826	556	88608											
C15orf2	23742	broad.mit.edu	37	chr15	24922567	24922567	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaagggagtccccaatatCtatgtgtgtggattcccctc	9	12	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:24922567C>A	uc001ywo.2	+	1	2027	c.1553C>A	c.(1552-1554)TCT>TAT	p.S518Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	518	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCCCAATATCTATGTGTGTG	0.547													A	24922567	C	A	24922567	3	1	161	1	0	0	0	0	1	0	0	0	1784	913	32	5	1555	5	C15orf2	15	24922567	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08		24922567	77608825	557	88609											
TRPM1	4308	broad.mit.edu	37	chr15	31332426	31332426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggtgtttggctgccacGgccagtttgaggcaggtcga	15	11	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:31332426G>A	uc001zfm.2	-	17	2273	c.2145C>T	c.(2143-2145)GCC>GCT	p.A715A	TRPM1_uc010azy.2_Silent_p.A622A|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	715	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		TGGCTGCCACGGCCAGTTTGA	0.542													A	31332426	G	A	31332426	2	1	161	1	0	0	0	0	0	0	0	1	16582	1103	39	1		1	TRPM1	15	31332426	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6409859	31332426	71198966	558	88610											
RYR3	6263	broad.mit.edu	37	chr15	34014966	34014966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaagctgctcatcagaCgcccagagtgcttcggcccg	12	14	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:34014966C>T	uc001zhi.2	+	44	6740	c.6670C>T	c.(6670-6672)CGC>TGC	p.R2224C	RYR3_uc010bar.2_Missense_Mutation_p.R2224C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2224	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GCTCATCAGACGCCCAGAGTG	0.582													T	34014966	C	T	34014966	3	4	161	1	0	0	0	0	1	0	0	0	13770	536	19	1	6844	1	RYR3	15	34014966	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2682540	34014966	68516426	559	88611											
RASGRP1	10125	broad.mit.edu	37	chr15	38786599	38786599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgttccagttcttggTaggtaggcagtctgaggtga	14	7	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:38786599T>C	uc001zke.3	-	16	2421	c.2243A>G	c.(2242-2244)TAC>TGC	p.Y748C	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Missense_Mutation_p.Y713C	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	748	Potential.|PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				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			large_intestine(1)|ovary(1)	2		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)		CAGTTCTTGGTAGGTAGGCAG	0.458													C	38786599	T	C	38786599	3	2	161	1	0	0	0	0	1	0	0	0	13074	1638	57	3	158	3	RASGRP1	15	38786599	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	4771633	38786599	63744793	560	88612											
DISP2	85455	broad.mit.edu	37	chr15	40659315	40659315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacagcagccaaccagtgCtgccccagctggtccctggg	13	16	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:40659315C>T	uc001zlk.1	+	8	1091	c.1002C>T	c.(1000-1002)TGC>TGT	p.C334C		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	334					smoothened signaling pathway	integral to membrane				ovary(2)	2		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)		CCAACCAGTGCTGCCCCAGCT	0.657													T	40659315	C	T	40659315	2	4	161	1	0	0	0	0	0	0	0	1	4540	805	28	2		2	DISP2	15	40659315	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1872716	40659315	61872077	561	88613											
DISP2	85455	broad.mit.edu	37	chr15	40660038	40660039	+	Frame_Shift_Ins	INS	-	-	G													gcaagagccagctgccgtcgINSggggggctggcgcagcgcgt					rs75662097	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:40660037_40660038C>CG	uc001zlk.1	+	7	1813_1814	c.1724_1725C>CG	c.(1723-1725)tcgfs	p.S575fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	575	SSD.				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)		CAGCTGCCGTCGGGGGGGCTGG	0.663													G	40660039	-	G	40660038	7	5	161	1	0	1	1	0	0	0	0	0	4540	1103	39	0	1755	0	DISP2	15	40660038	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	723	40660038	61871354	562	88614											
VPS18	57617	broad.mit.edu	37	chr15	41191837	41191837	+	Frame_Shift_Del	DEL	C	C	-													cagtgagttggccttctacaCccccaagctgcgctccgcac							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:41191837delC	uc001zne.2	+	4	1160	c.821delC	c.(820-822)ACCfs	p.T274fs		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	274					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		GCCTTCTACACCCCCAAGCTG	0.622													-	41191837	C	-	41191837	7	5	161	1	0	1	0	1	0	0	0	0	17191	507	18	0	835	0	VPS18	15	41191837	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	531799	41191837	61339555	563	88615											
DLL4	54567	broad.mit.edu	37	chr15	41228465	41228465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccaagccgcatgtgccGctgccgtcctggattcacgg	13	14	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:41228465G>A	uc001zng.1	+	9	1600	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	427	EGF-like 6.|Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		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)		CGCATGTGCCGCTGCCGTCCT	0.627													A	41228465	G	A	41228465	3	1	161	1	0	0	0	0	1	0	0	0	4568	1087	38	1	1314	1	DLL4	15	41228465	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	36628	41228465	61302927	564	88616											
TTBK2	146057	broad.mit.edu	37	chr15	43044962	43044962	+	Frame_Shift_Del	DEL	T	T	-													caccacactaaaagtctgtgTttttgtcacatcaagaggtt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:43044961_43044961GT>G	uc001zqo.2	-	13	2922	c.2483_2483AC>C	c.(2482-2484)acafs	p.T828fs	TTBK2_uc010bcy.2_Frame_Shift_Del_p.T759fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	828					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)		AAAAGTCTGTGTTTTTGTCAC	0.403													-	43044962	T	-	43044962	7	5	161	1	0	1	0	1	0	0	0	0	16674	1725	60	0	1260	0	TTBK2	15	43044962	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1816497	43044962	59486430	565	88617											
CKMT1A	548596	broad.mit.edu	37	chr15	43990261	43990261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcatgtggaatgagcGtttgggatacatcttgacct	13	6	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:43990261G>A	uc001zsn.2	+	8	1318	c.926G>A	c.(925-927)CGT>CAT	p.R309H	CKMT1A_uc010uea.1_Missense_Mutation_p.R340H|CKMT1A_uc001zso.3_Missense_Mutation_p.R309H	NM_001015001	NP_001015001	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	309	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		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)	Creatine(DB00148)	TGGAATGAGCGTTTGGGATAC	0.458													A	43990261	G	A	43990261	3	1	161	1	0	0	0	0	1	0	0	0	3449	1145	40	1	952	1	CKMT1A	15	43990261	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	945299	43990261	58541131	566	88618											
DUOX2	50506	broad.mit.edu	37	chr15	45401049	45401049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtccagcccaaaggccaGcagggcctggctatagctgg	14	12	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:45401049G>A	uc010bea.2	-	12	1539	c.1336C>T	c.(1336-1338)CTG>TTG	p.L446L	DUOX2_uc001zun.2_Silent_p.L446L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	446	Extracellular (Potential).|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			ovary(2)|skin(2)|pancreas(1)	5		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)		CCAAAGGCCAGCAGGGCCTGG	0.507													A	45401049	G	A	45401049	2	1	161	1	0	0	0	0	0	0	0	1	4801	962	34	2		2	DUOX2	15	45401049	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1410788	45401049	57130343	567	88619											
MYO5A	4644	broad.mit.edu	37	chr15	52689609	52689609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagagccagtgacacatctCctcatagtccacacccatga	7	15	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:52689609C>T	uc002aby.2	-	10	1352	c.1108G>A	c.(1108-1110)GAG>AAG	p.E370K	MYO5A_uc002abx.3_Missense_Mutation_p.E370K|MYO5A_uc010uge.1_Missense_Mutation_p.E239K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	370	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGACACATCTCCTCATAGTCC	0.483													T	52689609	C	T	52689609	3	4	161	1	0	0	0	0	1	0	0	0	10078	864	30	4	4587	4	MYO5A	15	52689609	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	7288560	52689609	49841783	568	88620											
CCPG1	9236	broad.mit.edu	37	chr15	55651780	55651781	+	Frame_Shift_Ins	INS	-	-	TA													gtgtgaccaaagaagtgtctINSatatatatattcatccaact							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:55651779_55651780C>CTA	uc010bfk.2	-	7	2490_2491	c.2191_2192G>TAG	c.(2191-2193)agafs	p.R731fs	CCPG1_uc002acy.3_Frame_Shift_Ins_p.R731fs|CCPG1_uc002acu.2_Frame_Shift_Ins_p.R587fs|CCPG1_uc002acz.2_Frame_Shift_Ins_p.R731fs|CCPG1_uc002acw.2_Frame_Shift_Ins_p.R456fs|CCPG1_uc002acx.3_Frame_Shift_Ins_p.R348fs|CCPG1_uc002acv.2_Frame_Shift_Ins_p.R731fs|CCPG1_uc021smu.1_Frame_Shift_Ins_p.R351fs	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	731					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)		AAAGAAGTGTCTATATATATAT	0.337													TA	55651781	-	TA	55651780	7	5	161	1	0	1	1	0	0	0	0	0	2938	1530	53	0	86	0	CCPG1	15	55651780	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	2962171	55651780	46879612	569	88621											
NEDD4	4734	broad.mit.edu	37	chr15	56125274	56125275	+	Frame_Shift_Ins	INS	-	-	T													aaactgaagtaatcttattcINSttttttctgaatccatcatt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:56125274_56125275insT	uc002adj.2	-	23	4015_4016	c.3715_3716insA	c.(3715-3717)AGAfs	p.R1239fs	NEDD4_uc002adl.2_Frame_Shift_Ins_p.R820fs|NEDD4_uc002adi.2_Frame_Shift_Ins_p.R1167fs|NEDD4_uc010ugj.1_Frame_Shift_Ins_p.R1223fs|NEDD4_uc010bfm.2_Frame_Shift_Ins_p.R1222fs|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1239	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			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCTTATTCTTTTTTCTGAA	0.347													T	56125275	-	T	56125274	7	5	161	1	0	1	1	0	0	0	0	0	10310	913	32	0	255	0	NEDD4	15	56125274	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	473494	56125274	46406118	570	88622	436	2									
NEDD4	4734	broad.mit.edu	37	chr15	56125275	56125276	+	Frame_Shift_Ins	INS	-	-	T													aactgaagtaatcttattctINStttttctgaatccatcatta							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:56125274_56125275C>CT	uc002adj.3	-	22	4015_4016	c.3715_3716G>AG	c.(3715-3717)agafs	p.R1239fs	NEDD4_uc002adl.3_Frame_Shift_Ins_p.R820fs|NEDD4_uc002adi.3_Frame_Shift_Ins_p.R1167fs|NEDD4_uc010ugj.2_Frame_Shift_Ins_p.R1223fs|NEDD4_uc010bfm.3_Frame_Shift_Ins_p.R1222fs|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1239	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	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific 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)		TAATCTTATTCTTTTTTCTGAA	0.347													T	56125276	-	T	56125275	7	5	161	1	0	1	1	0	0	0	0	0	10310	1617	56	0	256	0	NEDD4	15	56125275	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	56125275	46406117	571	88623	436	2									
SLTM	79811	broad.mit.edu	37	chr15	59191666	59191666	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactgacatagaaaaacaaAcctctttgcttgaccagagg	8	9	1	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:59191666A>G	uc002afp.2	-	7	1146	c.1058_splice	c.e7+1	p.S353_splice	SLTM_uc002afo.2_Splice_Site_p.S335_splice|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.F253L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						AGAAAAACAAACCTCTTTGCT	0.408													G	59191666	A	G	59191666	5	3	161	1	0	0	0	0	0	0	1	0	14754	57	2	3	2104	3	SLTM	15	59191666	Splice_Site	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3066391	59191666	43339726	572	88624											
NARG2	79664	broad.mit.edu	37	chr15	60760424	60760424	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagaaccattccaaTtgtggttttaactttttcct	7	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:60760424T>G	uc002agp.2	-	4	479	c.244A>C	c.(244-246)ATT>CTT	p.I82L	NARG2_uc002ago.2_Intron|NARG2_uc010bgk.2_Missense_Mutation_p.I82L|NARG2_uc002agr.1_Missense_Mutation_p.I82L	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	82						nucleus				ovary(1)|lung(1)	2						ACCATTCCAATTGTGGTTTTA	0.403													G	60760424	T	G	60760424	3	3	161	1	0	0	0	0	1	0	0	0	10169	1493	52	5	2756	5	NARG2	15	60760424	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1568758	60760424	41770968	573	88625											
SMAD6	4091	broad.mit.edu	37	chr15	67073530	67073530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagtcggtgcggcgaaCgcgcagcaagatcggcttcg	16	12	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:67073530C>T	uc002aqf.2	+	4	2071	c.1148C>T	c.(1147-1149)ACG>ATG	p.T383M	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.T122M	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	383	MH2.				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			skin(1)	1						GTGCGGCGAACGCGCAGCAAG	0.662													T	67073530	C	T	67073530	3	4	161	1	0	0	0	0	1	0	0	0	14762	536	19	1	1200	1	SMAD6	15	67073530	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6313106	67073530	35457862	574	88626											
NPTN	27020	broad.mit.edu	37	chr15	73889460	73889460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgctggccctgcactcGtaagtcccagagtcctccaa	9	15	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:73889460G>A	uc002avs.2	-	2	539	c.342C>T	c.(340-342)TAC>TAT	p.Y114Y	NPTN_uc010bjc.2_Silent_p.Y114Y|NPTN_uc002avt.2_Intron|NPTN_uc002avr.2_Intron|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	114	Ig-like 1.|Extracellular (Potential).				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				0						CCCTGCACTCGTAAGTCCCAG	0.577													A	73889460	G	A	73889460	2	1	161	1	0	0	0	0	0	0	0	1	10601	1140	40	1		1	NPTN	15	73889460	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6815930	73889460	28641932	575	88627											
CHRNB4	1143	broad.mit.edu	37	chr15	78921565	78921565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgcatgacttgctgggcGggaaggctctggccgggctg	17	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:78921565G>A	uc002bed.1	-	5	1194	c.1082C>T	c.(1081-1083)CCG>CTG	p.P361L	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.P179L	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	361	Cytoplasmic (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						CTTGCTGGGCGGGAAGGCTCT	0.632													A	78921565	G	A	78921565	3	1	161	1	0	0	0	0	1	0	0	0	3393	1116	39	1	422	1	CHRNB4	15	78921565	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5032105	78921565	23609827	576	88628											
MORF4L1	10933	broad.mit.edu	37	chr15	79186547	79186547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtcccaggtgtatggAgcgccacatctcctgagatt	10	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:79186547A>G	uc002bel.2	+	11	1082	c.894A>G	c.(892-894)GGA>GGG	p.G298G	MORF4L1_uc002bem.2_Silent_p.G259G|MORF4L1_uc010une.1_Silent_p.G171G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	298	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				0						AGGTGTATGGAGCGCCACATC	0.398													G	79186547	A	G	79186547	2	3	161	1	0	0	0	0	0	0	0	1	9706	291	11	3		3	MORF4L1	15	79186547	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	264982	79186547	23344845	577	88629											
KIAA1024	23251	broad.mit.edu	37	chr15	79749633	79749633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttcctgactttgaacggTcctttttcaatagaaatccc	6	10	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:79749633T>C	uc002bew.1	+	2	1219	c.1144T>C	c.(1144-1146)TCC>CCC	p.S382P	KIAA1024_uc010unk.1_Missense_Mutation_p.S382P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	382						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CTTTGAACGGTCCTTTTTCAA	0.532													C	79749633	T	C	79749633	3	2	161	1	0	0	0	0	1	0	0	0	8205	1667	58	3	1146	3	KIAA1024	15	79749633	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	563086	79749633	22781759	578	88630											
TM6SF1	53346	broad.mit.edu	37	chr15	83795547	83795547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctctgccgattatataCgcaatttcaagagccctatc	7	11	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:83795547C>T	uc002bjp.2	+	8	858	c.749C>T	c.(748-750)ACG>ATG	p.T250M	TM6SF1_uc010bmq.2_Intron|TM6SF1_uc002bjq.2_Intron|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Missense_Mutation_p.T102M	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	250						integral to membrane				ovary(1)	1						CGATTATATACGCAATTTCAA	0.338													T	83795547	C	T	83795547	3	4	161	1	0	0	0	0	1	0	0	0	15969	536	19	1	779	1	TM6SF1	15	83795547	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4045914	83795547	18735845	579	88631											
HDGFRP3	50810	broad.mit.edu	37	chr15	83820028	83820028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgttgcccgcatctccaCcctcagagctgcttttgttt	8	14	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:83820028C>A	uc002bjs.1	-	5	700	c.545G>T	c.(544-546)GGT>GTT	p.G182V		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	182					cell proliferation	nucleus	growth factor activity				0						CGCATCTCCACCCTCAGAGCT	0.418													A	83820028	C	A	83820028	3	1	161	1	0	0	0	0	1	0	0	0	7021	507	18	5	74	5	HDGFRP3	15	83820028	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	24481	83820028	18711364	580	88632											
ALPK3	57538	broad.mit.edu	37	chr15	85383910	85383910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctcctggccagcccaCacactccttgaccccccagc	8	21	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:85383910C>T	uc002ble.2	+	5	2173	c.2006C>T	c.(2005-2007)ACA>ATA	p.T669I		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	669					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGCCAGCCCACACACTCCTTG	0.637													T	85383910	C	T	85383910	3	4	161	1	0	0	0	0	1	0	0	0	546	478	17	4	2024	4	ALPK3	15	85383910	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1563882	85383910	17147482	581	88633											
FURIN	5045	broad.mit.edu	37	chr15	91420789	91420789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcgggggaagtggctgCggtggccaacaacggtgtct	19	8	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:91420789C>T	uc002bpu.1	+	7	827	c.611C>T	c.(610-612)GCG>GTG	p.A204V		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	204					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			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAAGTGGCTGCGGTGGCCAAC	0.637													T	91420789	C	T	91420789	3	4	161	1	0	0	0	0	1	0	0	0	6099	768	27	1	633	1	FURIN	15	91420789	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6036879	91420789	11110603	582	88634											
FES	2242	broad.mit.edu	37	chr15	91433451	91433451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggagcacctgggcccCggcgagcccccgcctgtgct	14	17	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:91433451C>T	uc002bpv.2	+	9	1275	c.1179C>T	c.(1177-1179)CCC>CCT	p.P393P	FES_uc010uqj.1_Silent_p.P335P|FES_uc010uqk.1_Silent_p.P375P|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.P335P|FES_uc002bpx.2_Silent_p.P393P|FES_uc002bpy.2_Silent_p.P335P	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	393					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTGGGCCCCGGCGAGCCCC	0.711													T	91433451	C	T	91433451	2	4	161	1	0	0	0	0	0	0	0	1	5820	639	23	1		1	FES	15	91433451	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	12662	91433451	11097941	583	88635											
MCTP2	55784	broad.mit.edu	37	chr15	94945156	94945156	+	Frame_Shift_Del	DEL	A	A	-													caagagatgtggaccgtgtgAaaagaatcactatggcaata							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:94945155_94945155GA>G	uc002btj.3	+	15	2057	c.1992_1992GA>G	c.(1990-1992)gtgfs	p.V664fs	MCTP2_uc010boj.3_Frame_Shift_Del_p.V393fs|MCTP2_uc010bok.3_Frame_Shift_Del_p.V664fs|MCTP2_uc002btk.4_Frame_Shift_Del_p.V252fs|MCTP2_uc002btl.3_Frame_Shift_Del_p.V252fs	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	664					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)			TGGACCGTGTGAAAAGAATCA	0.363													-	94945156	A	-	94945156	7	5	161	1	0	1	0	1	0	0	0	0	9401	247	9	0	2055	0	MCTP2	15	94945156	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3511705	94945156	7586236	584	88636											
FAM169B	283777	broad.mit.edu	37	chr15	98982885	98982885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactggaccttgtaagcttgCctggtggctgccctgccagc	13	13	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:98982885C>A	uc002buk.1	-	7	804	c.554G>T	c.(553-555)GGC>GTC	p.G185V		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	185											0						TGTAAGCTTGCCTGGTGGCTG	0.597													A	98982885	C	A	98982885	3	1	161	1	0	0	0	0	1	0	0	0	5488	739	26	5	28	5	FAM169B	15	98982885	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4037729	98982885	3548507	585	88637											
FAM169B	283777	broad.mit.edu	37	chr15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcttccaaaaataatggCgtttagaatgaaaagcacaa	6	7	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:99023964C>T	uc002buk.1	-	4	299	c.49G>A	c.(49-51)GCC>ACC	p.A17T		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	17											0						AAAATAATGGCGTTTAGAATG	0.383													T	99023964	C	T	99023964	3	4	161	1	0	0	0	0	1	0	0	0	5488	768	27	1	545	1	FAM169B	15	99023964	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	41079	99023964	3507428	586	88638											
MPG	4350	broad.mit.edu	37	chr16	129486	129486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcagccacacagctcGtccgacgcagcccaggcacc	12	18	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:129486G>A	uc002cfn.2	+	3	420	c.102G>A	c.(100-102)TCG>TCA	p.S34S	MPG_uc002cfm.2_Silent_p.S17S|MPG_uc010bqp.2_Silent_p.S17S|MPG_uc002cfo.2_Silent_p.S29S	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	34					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CACACAGCTCGTCCGACGCAG	0.597								BER_DNA_glycosylases					A	129486	G	A	129486	2	1	161	1	0	0	0	0	0	0	0	1	9724	1132	40	1		1	MPG	16	129486	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		129486	90225267	587	88639											
TMEM8A	58986	broad.mit.edu	37	chr16	426666	426666	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcggcagggccaggggGcaccggtgcaggtgagcacc	20	12	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:426666G>C	uc002cgu.3	-	5	911	c.782C>G	c.(781-783)GCC>GGC	p.A261G	TMEM8A_uc002cgv.3_Missense_Mutation_p.A68G	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	261	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						GGGCCAGGGGGCACCGGTGCA	0.697													C	426666	G	C	426666	3	2	161	1	0	0	0	0	1	0	0	0	16211	1203	42	5	1569	5	TMEM8A	16	426666	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	297180	426666	89928087	588	88640											
TMEM8A	58986	broad.mit.edu	37	chr16	427749	427749	+	Frame_Shift_Del	DEL	G	G	-													agcgtagaagcacagcatctGggggcacgcggaagcggaag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:427749delG	uc002cgu.3	-	2	350	c.221delC	c.(220-222)CCAfs	p.P74fs	TMEM8A_uc002cgv.3_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	74	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CACAGCATCTGGGGGCACGCG	0.687													-	427749	G	-	427749	7	5	161	1	0	1	0	1	0	0	0	0	16211	1348	47	0	2142	0	TMEM8A	16	427749	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1083	427749	89927004	589	88641											
C16orf11	146325	broad.mit.edu	37	chr16	614093	614093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccccccgcctgtactacCcgctgcttctggagcacact	9	19	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:614093C>T	uc002chk.2	+	2	1078	c.799C>T	c.(799-801)CCG>TCG	p.P267S	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	267	Pro-rich.									central_nervous_system(1)	1						CCTGTACTACCCGCTGCTTCT	0.741													T	614093	C	T	614093	3	4	161	1	0	0	0	0	1	0	0	0	1810	623	22	4	801	4	C16orf11	16	614093	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	186344	614093	89740660	590	88642											
PIGQ	9091	broad.mit.edu	37	chr16	632963	632963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccaagcactcctggggCgccctgtgccgcaagctgtt	11	17	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:632963C>T	uc002cho.2	+	10	1714	c.1612C>T	c.(1612-1614)CGC>TGC	p.R538C	PIGQ_uc010bqw.2_Silent_p.G558G|PIGQ_uc002chn.2_Silent_p.G558G|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Missense_Mutation_p.R108C|uc010uuj.1_3'UTR	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	538					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)	1		Hepatocellular(780;0.00335)				ACTCCTGGGGCGCCCTGTGCC	0.657													T	632963	C	T	632963	3	4	161	1	0	0	0	0	1	0	0	0	11896	768	27	1	1712	1	PIGQ	16	632963	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	18870	632963	89721790	591	88643											
RAB40C	57799	broad.mit.edu	37	chr16	677527	677527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggggccgggggcggcGgcagcaagggcaacagcctc	19	14	0	0	rs145997805		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:677527G>A	uc002chr.2	+	6	867	c.751G>A	c.(751-753)GGC>AGC	p.G251S	RAB40C_uc002chq.2_Missense_Mutation_p.G232S|WFIKKN1_uc002chs.1_5'Flank	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	251					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				CGGGGGCGGCGGCAGCAAGGG	0.647													A	677527	G	A	677527	3	1	161	1	0	0	0	0	1	0	0	0	12942	1116	39	1	773	1	RAB40C	16	677527	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	44564	677527	89677226	592	88644											
WDR90	197335	broad.mit.edu	37	chr16	701719	701719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcggttcagtgtgtctcCagtggtccagacgcccagcc	13	13	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:701719C>A	uc002cii.1	+	8	866	c.812C>A	c.(811-813)CCA>CAA	p.P271Q	WDR90_uc002cig.1_Missense_Mutation_p.P271Q|WDR90_uc002cih.1_Missense_Mutation_p.P271Q|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	271										ovary(1)	1		Hepatocellular(780;0.0218)				AGTGTGTCTCCAGTGGTCCAG	0.642													A	701719	C	A	701719	3	1	161	1	0	0	0	0	1	0	0	0	17334	594	21	5	842	5	WDR90	16	701719	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	24192	701719	89653034	593	88645											
MSLN	10232	broad.mit.edu	37	chr16	815536	815536	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctgcacagccccccgtcGacatggtctgtctccacgat	9	16	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:815536G>A	uc002cjw.1	+	9	765	c.714G>A	c.(712-714)TCG>TCA	p.S238S	MSLN_uc002cjt.1_Silent_p.S238S|MSLN_uc002cju.1_Silent_p.S238S|MSLN_uc010brd.1_Silent_p.S237S|MSLN_uc002cjv.1_Silent_p.S238S|MSLN_uc002cjx.1_Silent_p.S238S|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	238					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				GCCCCCCGTCGACATGGTCTG	0.692													A	815536	G	A	815536	2	1	161	1	0	0	0	0	0	0	0	1	9881	1045	37	1		1	MSLN	16	815536	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	113817	815536	89539217	594	88646											
GNG13	51764	broad.mit.edu	37	chr16	849007	849007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttggacgccatctccCgctggaaggccagctggtac	13	13	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:849007C>T	uc002ckh.3	-	2	173	c.71G>A	c.(70-72)CGG>CAG	p.R24Q		NM_016541	NP_057625	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein),	24					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity				0		Hepatocellular(780;0.00335)				CGCCATCTCCCGCTGGAAGGC	0.597													T	849007	C	T	849007	3	4	161	1	0	0	0	0	1	0	0	0	6526	652	23	1	140	1	GNG13	16	849007	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	33471	849007	89505746	595	88647											
GNPTG	84572	broad.mit.edu	37	chr16	1412689	1412689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaaatgaacccacccaGctggagggaggtcctgacag	13	10	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:1412689G>A	uc002clm.2	+	9	722	c.687G>A	c.(685-687)CAG>CAA	p.Q229Q		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	229						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				AACCCACCCAGCTGGAGGGAG	0.567													A	1412689	G	A	1412689	2	1	161	1	0	0	0	0	0	0	0	1	6546	962	34	2		2	GNPTG	16	1412689	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	563682	1412689	88942064	596	88648											
TRAF7	84231	broad.mit.edu	37	chr16	2223817	2223817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccacatcaacgcgcggcTgaacatgggcatcctaggct	11	14	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2223817T>C	uc002cow.2	+	12	1214	c.1115T>C	c.(1114-1116)CTG>CCG	p.L372P		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	372					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						AACGCGCGGCTGAACATGGGC	0.697													C	2223817	T	C	2223817	3	2	161	1	0	0	0	0	1	0	0	0	16443	1580	55	3	1157	3	TRAF7	16	2223817	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	811128	2223817	88130936	597	88649											
CASKIN1	57524	broad.mit.edu	37	chr16	2239256	2239256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccccaacgcggccgaactCgcaggccaggtccaggggcg	14	17	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2239256C>T	uc010bsg.1	-	5	501	c.469G>A	c.(469-471)GAG>AAG	p.E157K		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	157	ANK 4.				signal transduction	cytoplasm				skin(2)	2						CGGCCGAACTCGCAGGCCAGG	0.662													T	2239256	C	T	2239256	3	4	161	1	0	0	0	0	1	0	0	0	2666	893	31	1	3890	1	CASKIN1	16	2239256	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	15439	2239256	88115497	598	88650											
AMDHD2	51005	broad.mit.edu	37	chr16	2578619	2578620	+	Frame_Shift_Ins	INS	-	-	C													catgccaggtggcccacgacINSccccccagagcctgccctct					rs142686134		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2578618_2578619A>AC	uc010uwc.2	+	7	1125_1126	c.1028_1029A>AC	c.(1027-1029)gacfs	p.D343fs	AMDHD2_uc002cqp.3_Frame_Shift_Ins_p.D343fs|AMDHD2_uc002cqq.3_Intron|AMDHD2_uc010uwd.2_Frame_Shift_Ins_p.D107fs	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	323					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						GTGGCCCACGACCCCCCCAGAG	0.663													C	2578620	-	C	2578619	7	5	161	1	0	1	1	0	0	0	0	0	568	506	18	0	1059	0	AMDHD2	16	2578619	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	339363	2578619	87776134	599	88651											
PRSS33	260429	broad.mit.edu	37	chr16	2835834	2835834	+	Frame_Shift_Del	DEL	G	G	-													cgccgctgtcagcacccactGgggggcgatgagcgaccccc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2835834delG	uc002cro.1	-	3	368	c.208delC	c.(208-210)CAGfs	p.Q70fs	PRSS33_uc002crp.1_Frame_Shift_Del_p.Q70fs|PRSS33_uc010uwh.1_Frame_Shift_Del_p.Q70fs	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	protease, serine, 33 precursor	70	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						AGCACCCACTGGGGGGCGATG	0.721													-	2835834	G	-	2835834	7	5	161	1	0	1	0	1	0	0	0	0	12623	1357	47	0	650	0	PRSS33	16	2835834	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	257215	2835834	87518919	600	88652											
BTBD12	84464	broad.mit.edu	37	chr16	3656526	3656526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggacattttcttcccGcgcagcctcgagggagcact	11	13	1	0	rs142739533	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:3656526G>A	uc002cvp.2	-	3	1336	c.709C>T	c.(709-711)CGG>TGG	p.R237W	BTBD12_uc002cvq.1_Missense_Mutation_p.R237W	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	237	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TTTTCTTCCCGCGCAGCCTCG	0.512								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3656526	G	A	3656526	3	1	161	1	0	0	0	0	1	0	0	0	1540	1086	38	1	4847	1	BTBD12	16	3656526	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	820692	3656526	86698227	601	88653											
CREBBP	1387	broad.mit.edu	37	chr16	3778387	3778387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccatgcccccagccaTgccggcactcccttgctgct	8	22	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:3778387T>C	uc002cvv.2	-	31	6865	c.6661A>G	c.(6661-6663)ATG>GTG	p.M2221V	CREBBP_uc002cvw.2_Missense_Mutation_p.M2183V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2221					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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCCCAGCCATGCCGGCACTC	0.448			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				C	3778387	T	C	3778387	3	2	161	1	0	0	0	0	1	0	0	0	3861	1464	51	3	671	3	CREBBP	16	3778387	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	121861	3778387	86576366	602	88654											
SEC14L5	9717	broad.mit.edu	37	chr16	5038171	5038171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggtgttgagcacgtgGtcttcgtgcagacaaacatc	12	10	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:5038171G>A	uc002cye.2	+	4	415	c.235G>A	c.(235-237)GTC>ATC	p.V79I		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	79	PRELI/MSF1.					integral to membrane|intracellular	transporter activity				0						TGAGCACGTGGTCTTCGTGCA	0.627													A	5038171	G	A	5038171	3	1	161	1	0	0	0	0	1	0	0	0	13985	1261	44	4	245	4	SEC14L5	16	5038171	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1259784	5038171	85316582	603	88655											
GRIN2A	2903	broad.mit.edu	37	chr16	9934526	9934526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaagcagaaggtgagacGgtgccattacttcttgaaac	11	7	1	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:9934526G>A	uc002czo.3	-	7	2177	c.1629C>T	c.(1627-1629)ACC>ACT	p.T543T	GRIN2A_uc010uym.1_Silent_p.T543T|GRIN2A_uc010uyn.1_Silent_p.T386T|GRIN2A_uc002czr.3_Silent_p.T543T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	543	Extracellular (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGTGAGACGGTGCCATTAC	0.453													A	9934526	G	A	9934526	2	1	161	1	0	0	0	0	0	0	0	1	6779	1103	39	1		1	GRIN2A	16	9934526	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4896355	9934526	80420227	604	88656											
EMP2	2013	broad.mit.edu	37	chr16	10631802	10631802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgacattagctggatgAtggaggttaggacaaacctc	11	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:10631802A>G	uc002czx.2	-	4	493	c.299T>C	c.(298-300)ATC>ACC	p.I100T		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	100	Helical; (Potential).				cell proliferation	integral to membrane					0						TAGCTGGATGATGGAGGTTAG	0.537													G	10631802	A	G	10631802	3	3	161	1	0	0	0	0	1	0	0	0	5102	333	12	3	212	3	EMP2	16	10631802	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	697276	10631802	79722951	605	88657											
SMG1	23049	broad.mit.edu	37	chr16	18865138	18865138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagctttcacagacttgCagaaagatatggcacaagaa	8	8	2	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:18865138C>T	uc002dfm.2	-	31	4898	c.4535G>A	c.(4534-4536)TGC>TAC	p.C1512Y	SMG1_uc010bwb.2_Missense_Mutation_p.C1372Y|SMG1_uc010bwa.2_Missense_Mutation_p.C243Y	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1512	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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CACAGACTTGCAGAAAGATAT	0.398													T	18865138	C	T	18865138	3	4	161	1	0	0	0	0	1	0	0	0	14795	710	25	2	6582	2	SMG1	16	18865138	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	8233336	18865138	71489615	606	88658											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126606	19126606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagcctggaggggcgctgtCgggtcaccttgaccccaggt	15	13	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:19126606C>T	uc002dfu.3	+	1	1353	c.823C>T	c.(823-825)CGG>TGG	p.R275W	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	275	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						GGGGCGCTGTCGGGTCACCTT	0.652											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	19126606	C	T	19126606	3	4	161	1	0	0	0	0	1	0	0	0	7925	875	31	1	825	1	ITPRIPL2	16	19126606	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	261468	19126606	71228147	607	88659											
ACSM2B	348158	broad.mit.edu	37	chr16	20559759	20559759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccggtaaacaataggggCacccatcatactcttgattg	8	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:20559759C>T	uc002dhj.3	-	8	1141	c.931G>A	c.(931-933)GCC>ACC	p.A311T	ACSM2B_uc002dhk.3_Missense_Mutation_p.A311T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A311T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	311					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						ACAATAGGGGCACCCATCATA	0.507													T	20559759	C	T	20559759	3	4	161	1	0	0	0	0	1	0	0	0	184	710	25	2	834	2	ACSM2B	16	20559759	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1433153	20559759	69794994	608	88660											
DNAH3	55567	broad.mit.edu	37	chr16	21080738	21080738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagggtataaaaacttaccgCttgggacataagtgatttcc	9	7	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:21080738C>A	uc010vbe.1	-	23	3379	c.3379G>T	c.(3379-3381)GCG>TCG	p.A1127S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1127	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AAACTTACCGCTTGGGACATA	0.393													A	21080738	C	A	21080738	3	1	161	1	0	0	0	0	1	0	0	0	4603	797	28	5	9130	5	DNAH3	16	21080738	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	520979	21080738	69274015	609	88661											
HS3ST2	9956	broad.mit.edu	37	chr16	22926629	22926629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcactgacccggccggcGagatggggcgagtccaggac	15	13	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:22926629G>A	uc002dli.2	+	2	922	c.850G>A	c.(850-852)GAG>AAG	p.E284K	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	284	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CCCGGCCGGCGAGATGGGGCG	0.537													A	22926629	G	A	22926629	3	1	161	1	0	0	0	0	1	0	0	0	7364	1059	37	1	856	1	HS3ST2	16	22926629	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1845891	22926629	67428124	610	88662											
KIAA0556	23247	broad.mit.edu	37	chr16	27788937	27788937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtccctgcagctcctgGtggacgacctgcttgtgtac	12	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:27788937G>A	uc002dow.2	+	26	4582	c.4558G>A	c.(4558-4560)GTG>ATG	p.V1520M	KIAA0556_uc010vco.1_Missense_Mutation_p.V22M	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1520								p.V1520V(1)		ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GCAGCTCCTGGTGGACGACCT	0.507													A	27788937	G	A	27788937	3	1	161	1	0	0	0	0	1	0	0	0	8183	1261	44	4	4660	4	KIAA0556	16	27788937	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4862308	27788937	62565816	611	88663											
SBK1	388228	broad.mit.edu	37	chr16	28331595	28331595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgtcaagcgcgtgagcGgcaccatcccttacacggcg	13	16	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:28331595G>A	uc002dpd.2	+	4	1417	c.628G>A	c.(628-630)GGC>AGC	p.G210S		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	210	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GCGCGTGAGCGGCACCATCCC	0.721													A	28331595	G	A	28331595	3	1	161	1	0	0	0	0	1	0	0	0	13860	1116	39	1	638	1	SBK1	16	28331595	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	542658	28331595	62023158	612	88664											
ATXN2L	11273	broad.mit.edu	37	chr16	28846491	28846491	+	Frame_Shift_Del	DEL	C	C	-													cccttctgcagagcagcctaCcccccaagccctttatggtg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:28846490_28846490AC>A	uc002dqy.3	+	18	2712	c.2545_2545AC>A	c.(2545-2547)accfs	p.T849fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.T855fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.T258fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.T131fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	849						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGAGCAGCCTACCCCCCAAGC	0.627													-	28846491	C	-	28846491	7	5	161	1	0	1	0	1	0	0	0	0	1212	507	18	0	2620	0	ATXN2L	16	28846491	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	514896	28846491	61508262	613	88665											
SPNS1	83985	broad.mit.edu	37	chr16	28993747	28993747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtggagatcagccgcCggctccgccactccaacccc	12	17	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:28993747C>T	uc010vdi.1	+	9	1176	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R273W|SPNS1_uc002dsa.2_Missense_Mutation_p.R346W|SPNS1_uc002drz.2_Missense_Mutation_p.R294W|SPNS1_uc010byp.2_Missense_Mutation_p.R272W|SPNS1_uc010byq.1_Missense_Mutation_p.R278W|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	346					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GATCAGCCGCCGGCTCCGCCA	0.657													T	28993747	C	T	28993747	3	4	161	1	0	0	0	0	1	0	0	0	15073	643	23	1	1066	1	SPNS1	16	28993747	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	147256	28993747	61361006	614	88666											
MVP	9961	broad.mit.edu	37	chr16	29841900	29841900	+	Frame_Shift_Del	DEL	C	C	-													gaagagttcatcatccgcatCcccccataccactatatcca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:29841899_29841899TC>T	uc002dui.3	+	1	181	c.29_29TC>T	c.(28-30)atcfs	p.I10fs	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Frame_Shift_Del_p.I10fs|MVP_uc010vea.2_5'Flank	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	10					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						ATCATCCGCATCCCCCCATAC	0.562													-	29841900	C	-	29841900	7	5	161	1	0	1	0	1	0	0	0	0	9996	845	30	0	32	0	MVP	16	29841900	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	848153	29841900	60512853	615	88667											
TAOK2	9344	broad.mit.edu	37	chr16	29998848	29998848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcatatctcgactctgGttgcgggttctgctgcgcct	14	12	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:29998848G>A	uc002dva.1	+	16	4038	c.3255G>A	c.(3253-3255)TGG>TGA	p.W1085*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Nonsense_Mutation_p.W1092*|TAOK2_uc002dvd.1_Nonsense_Mutation_p.W912*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1085					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			ovary(1)	1						CTCGACTCTGGTTGCGGGTTC	0.682													A	29998848	G	A	29998848	4	1	161	1	0	0	0	0	0	1	0	0	15545	1270	44	4	3313	4	TAOK2	16	29998848	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	156948	29998848	60355905	616	88668											
ZNF629	23361	broad.mit.edu	37	chr16	30794491	30794491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccgcagcaacgtggcGctcagggtgaaggtcttgcc	16	11	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:30794491G>A	uc002dzs.1	-	3	1366	c.1158C>T	c.(1156-1158)AGC>AGT	p.S386S		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	386	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GCAACGTGGCGCTCAGGGTGA	0.647													A	30794491	G	A	30794491	2	1	161	1	0	0	0	0	0	0	0	1	18050	1078	38	1		1	ZNF629	16	30794491	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	795643	30794491	59560262	617	88669											
PRSS53	339105	broad.mit.edu	37	chr16	31097488	31097488	+	Frame_Shift_Del	DEL	G	G	-													caggctcgaggcacagcacaGggcccccggaatctccctgg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:31097487_31097487AG>A	uc002eaq.3	-	5	681	c.681_681CT>T	c.(679-681)cctfs	p.P227fs	PRSS53_uc002ear.3_Frame_Shift_Del_p.P21fs	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	227	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						GGCACAGCACAGGGCCCCCGG	0.602													-	31097488	G	-	31097488	7	5	161	1	0	1	0	1	0	0	0	0	12632	1000	35	0	1005	0	PRSS53	16	31097488	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	302997	31097488	59257265	618	88670											
ARMC5	79798	broad.mit.edu	37	chr16	31473647	31473647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaccttagccctcgtccGtgccctcctggaactcagcc	8	18	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:31473647G>A	uc002ecc.2	+	3	1308	c.779G>A	c.(778-780)CGT>CAT	p.R260H	ARMC5_uc010vfn.1_Missense_Mutation_p.R355H|ARMC5_uc010vfo.1_Missense_Mutation_p.R292H|ARMC5_uc002eca.3_Missense_Mutation_p.R260H|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R260H	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	260	ARM 3.						binding			pancreas(1)	1						GCCCTCGTCCGTGCCCTCCTG	0.692													A	31473647	G	A	31473647	3	1	161	1	0	0	0	0	1	0	0	0	954	1145	40	1	789	1	ARMC5	16	31473647	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	376159	31473647	58881106	619	88671											
ADCY7	113	broad.mit.edu	37	chr16	50338447	50338447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagacccacgtccccaaCgggcggaggcctaaggtagg	16	12	0	1	rs144290211		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:50338447C>T	uc002egd.1	+	10	1813	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	ADCY7_uc002egb.1_Silent_p.N515N|ADCY7_uc002egc.1_Silent_p.N515N	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	515	Cytoplasmic (Potential).				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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACGTCCCCAACGGGCGGAGGC	0.632													T	50338447	C	T	50338447	2	4	161	1	0	0	0	0	0	0	0	1	299	535	19	1		1	ADCY7	16	50338447	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	18864800	50338447	40016306	620	88672											
CHD9	80205	broad.mit.edu	37	chr16	53243458	53243458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagaatacccaggtgaGggtcatgtctgagaagaagc	14	7	2	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:53243458G>T	uc002ehb.2	+	2	1681	c.1517G>T	c.(1516-1518)AGG>ATG	p.R506M	CHD9_uc002egy.2_Missense_Mutation_p.R506M|CHD9_uc002egz.1_Missense_Mutation_p.R506M|CHD9_uc002eha.1_Missense_Mutation_p.R506M|CHD9_uc002ehc.2_Missense_Mutation_p.R506M|CHD9_uc002ehd.2_Missense_Mutation_p.R32M	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	506					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACCCAGGTGAGGGTCATGTCT	0.393													T	53243458	G	T	53243458	3	4	161	1	0	0	0	0	1	0	0	0	3332	1000	35	5	1523	5	CHD9	16	53243458	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2905011	53243458	37111295	621	88673											
PLA2G15	23659	broad.mit.edu	37	chr16	68289217	68289217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccatggtggagagccttGtgggctggggctacacacgg	16	10	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:68289217G>A	uc002evr.2	+	4	519	c.436G>A	c.(436-438)GTG>ATG	p.V146M	PLA2G15_uc010vld.1_Missense_Mutation_p.V146M|PLA2G15_uc010vle.1_Silent_p.L93L|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_Translation_Start_Site	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	146					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GGAGAGCCTTGTGGGCTGGGG	0.562													A	68289217	G	A	68289217	3	1	161	1	0	0	0	0	1	0	0	0	11992	1377	48	4	450	4	PLA2G15	16	68289217	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	15045759	68289217	22065536	622	88674											
ADAMTS18	170692	broad.mit.edu	37	chr16	77326974	77326974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgacttctaatccataccTcgctccacgaagaagcgacc	7	14	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:77326974T>C	uc002ffc.3	-	20	3607	c.3188A>G	c.(3187-3189)GAG>GGG	p.E1063G	ADAMTS18_uc010chc.1_Missense_Mutation_p.E651G	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1063	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AATCCATACCTCGCTCCACGA	0.363													C	77326974	T	C	77326974	3	2	161	1	0	0	0	0	1	0	0	0	263	1565	54	3	493	3	ADAMTS18	16	77326974	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	9037757	77326974	13027779	623	88675											
LRRC50	123872	broad.mit.edu	37	chr16	84183889	84183889	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcaaaaactctgcaaGcagcacaagctttatattac	5	12	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:84183889G>C	uc002fhl.3	+	3	475	c.294G>C	c.(292-294)AAG>AAC	p.K98N	LRRC50_uc010chi.1_RNA	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	98			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						AACTCTGCAAGCAGCACAAGC	0.368									Kartagener_syndrome				C	84183889	G	C	84183889	3	2	161	1	0	0	0	0	1	0	0	0	9009	962	34	5	304	5	LRRC50	16	84183889	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6856915	84183889	6170864	624	88676											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	CC													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:85682289_85682290A>ACC	uc002fix.3	+	2	432_433	c.358_359A>ACC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													CC	85682291	-	CC	85682290	7	5	161	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1498401	85682290	4672463	625	88677											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445525	87445525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcaggccactcgagccGcagctgccgctgcagccaca	11	17	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:87445525G>A	uc002fjz.1	-	12	2418	c.2391C>T	c.(2389-2391)TGC>TGT	p.C797C	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.C573C	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	797					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTCGAGCCGCAGCTGCCGC	0.612													A	87445525	G	A	87445525	2	1	161	1	0	0	0	0	0	0	0	1	17580	1079	38	1		1	ZCCHC14	16	87445525	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1763235	87445525	2909228	626	88678											
SPG7	6687	broad.mit.edu	37	chr16	89598886	89598886	+	Frame_Shift_Del	DEL	G	G	-													ctcaggcctcggcgctgcccGtgtgcggagcctctttaagg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:89598886delG	uc002fnj.2	+	9	1187	c.1166delG	c.(1165-1167)CGTfs	p.R389fs	SPG7_uc002fni.2_Frame_Shift_Del_p.R389fs	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	389	Mitochondrial matrix (Potential).				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				0		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)		GGCGCTGCCCGTGTGCGGAGC	0.582													-	89598886	G	-	89598886	7	5	161	1	0	1	0	1	0	0	0	0	15043	1145	40	0	1200	0	SPG7	16	89598886	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2153361	89598886	755867	627	88679											
PITPNA	5306	broad.mit.edu	37	chr17	1442213	1442213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatatatacggcttccaCgtgtttccacgcctcaggct	8	13	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:1442213C>T	uc002fst.3	-	6	662	c.406G>A	c.(406-408)GTG>ATG	p.V136M	PITPNA_uc010cjt.2_Missense_Mutation_p.V20M|PITPNA_uc010cju.2_Missense_Mutation_p.V34M	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	136					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	p.V136M(1)		ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		ACGGCTTCCACGTGTTTCCAC	0.473													T	1442213	C	T	1442213	3	4	161	1	0	0	0	0	1	0	0	0	11947	536	19	1	426	1	PITPNA	17	1442213	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08		1442213	79752997	628	88680											
KIAA0664	23277	broad.mit.edu	37	chr17	2594035	2594035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggagctggtgccgccgCgccacctcggctttcagatt	12	15	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:2594035C>T	uc002fuy.1	-	26	3869	c.3783G>A	c.(3781-3783)GCG>GCA	p.A1261A	KIAA0664_uc002fux.1_Silent_p.A1194A|KIAA0664_uc010ckc.1_3'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1261							binding			breast(2)	2						GGTGCCGCCGCGCCACCTCGG	0.672													T	2594035	C	T	2594035	2	4	161	1	0	0	0	0	0	0	0	1	8189	755	27	1		1	KIAA0664	17	2594035	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1151822	2594035	78601175	629	88681											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219155	8219155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcatgcccacgctgtgGggcctttctcggtgtatgtg	15	10	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:8219155G>T	uc002glc.2	+	8	1625	c.1504G>T	c.(1504-1506)GGG>TGG	p.G502W	ARHGEF15_uc002gld.2_Missense_Mutation_p.G502W|ARHGEF15_uc010vuw.1_Missense_Mutation_p.G391W	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	502	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCACGCTGTGGGGCCTTTCTC	0.582													T	8219155	G	T	8219155	3	4	161	1	0	0	0	0	1	0	0	0	898	1232	43	5	1530	5	ARHGEF15	17	8219155	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5625120	8219155	72976055	630	88682											
ODF4	146852	broad.mit.edu	37	chr17	8243654	8243654	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgcctttatcctactAttggtcgtggccttctccaa	8	12	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:8243654A>T	uc002gle.1	+	1	467	c.285A>T	c.(283-285)CTA>CTT	p.L95L		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	95	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1						TTATCCTACTATTGGTCGTGG	0.557													T	8243654	A	T	8243654	2	4	161	1	0	0	0	0	0	0	0	1	10833	436	16	5		5	ODF4	17	8243654	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	24499	8243654	72951556	631	88683											
MYH4	4622	broad.mit.edu	37	chr17	10346710	10346710	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattactcttcacttatgacTtttgtgtgaacctcccgact	5	11	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:10346710T>A	uc002gmn.2	-	40	5913	c.5802A>T	c.(5800-5802)AAA>AAT	p.K1934N	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1934	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CACTTATGACTTTTGTGTGAA	0.443													A	10346710	T	A	10346710	3	1	161	1	0	0	0	0	1	0	0	0	10037	1606	56	5	21	5	MYH4	17	10346710	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2103056	10346710	70848500	632	88684											
MYH3	4621	broad.mit.edu	37	chr17	10532982	10532982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattctgcgatatccgcacGttcctcggcctcctccagct	8	16	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:10532982G>A	uc002gmq.1	-	39	5805	c.5728C>T	c.(5728-5730)CGT>TGT	p.R1910C		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1910	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ATATCCGCACGTTCCTCGGCC	0.557													A	10532982	G	A	10532982	3	1	161	1	0	0	0	0	1	0	0	0	10036	1145	40	1	102	1	MYH3	17	10532982	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	186272	10532982	70662228	633	88685											
ZNF287	57336	broad.mit.edu	37	chr17	16467045	16467045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccaatagttctgtaacGtcacagtcttgtataattcc	6	9	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:16467045G>A	uc002gqi.2	-	4	1049	c.596C>T	c.(595-597)ACG>ATG	p.T199M		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	192	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTCTGTAACGTCACAGTCTT	0.458													A	16467045	G	A	16467045	3	1	161	1	0	0	0	0	1	0	0	0	17822	1145	40	1	1701	1	ZNF287	17	16467045	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5934063	16467045	64728165	634	88686											
CYTSB	92521	broad.mit.edu	37	chr17	19999968	19999968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccacgaagtcaagcatgCggagtgcagccaagccctgg	13	13	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:19999968C>T	uc002gwq.2	+	2	149	c.4C>T	c.(4-6)CGG>TGG	p.R2W	CYTSB_uc010cqx.2_Missense_Mutation_p.R2W|CYTSB_uc002gwr.2_Missense_Mutation_p.R2W|CYTSB_uc002gws.2_Missense_Mutation_p.R2W	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	2						nucleus					0						GTCAAGCATGCGGAGTGCAGC	0.572													T	19999968	C	T	19999968	3	4	161	1	0	0	0	0	1	0	0	0	4210	759	27	1	6	1	CYTSB	17	19999968	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3532923	19999968	61195242	635	88687											
CYTSB	92521	broad.mit.edu	37	chr17	20013849	20013849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagccatctcggagctcaCggagagccgcctgaggagcg	16	13	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:20013849C>T	uc002gwq.2	+	3	402	c.257C>T	c.(256-258)ACG>ATG	p.T86M	CYTSB_uc010cqx.2_Missense_Mutation_p.T86M|CYTSB_uc002gwr.2_Missense_Mutation_p.T86M|CYTSB_uc002gws.2_Missense_Mutation_p.T86M	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	86						nucleus					0						TCGGAGCTCACGGAGAGCCGC	0.652													T	20013849	C	T	20013849	3	4	161	1	0	0	0	0	1	0	0	0	4210	536	19	1	263	1	CYTSB	17	20013849	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	13881	20013849	61181361	636	88688											
MAP2K3	5606	broad.mit.edu	37	chr17	21203933	21203933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatggggtggtagagaaggTgcggcacgcccagagcggca	18	9	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:21203933T>C	uc002gys.2	+	4	507	c.242T>C	c.(241-243)GTG>GCG	p.V81A	MAP2K3_uc002gyt.2_Missense_Mutation_p.V52A|MAP2K3_uc002gyu.2_Missense_Mutation_p.V52A	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	81	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GTAGAGAAGGTGCGGCACGCC	0.612													C	21203933	T	C	21203933	3	2	161	1	0	0	0	0	1	0	0	0	9238	1696	59	3	256	3	MAP2K3	17	21203933	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1190084	21203933	59991277	637	88689											
VTN	7448	broad.mit.edu	37	chr17	26696773	26696773	+	Frame_Shift_Del	DEL	C	C	-													ggtcagaggtcagggaggggCcccccacctgttcatggaca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:26696772_26696772GC>G	uc002hbc.3	-	2	434	c.285_285GC>C	c.(283-285)ggcfs	p.G95fs	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	95					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCAGGGAGGGGCCCCCCACCT	0.592													-	26696773	C	-	26696773	7	5	161	1	0	1	0	1	0	0	0	0	17234	739	26	0	1176	0	VTN	17	26696773	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5492840	26696773	54498437	638	88690											
SUPT6H	6830	broad.mit.edu	37	chr17	27028588	27028588	+	Frame_Shift_Del	DEL	C	C	-													cagccccatgatcgaaagcaCccccatgtccattgctggcg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:27028587_27028587AC>A	uc010crt.3	+	37	5317	c.5125_5125AC>A	c.(5125-5127)accfs	p.T1709fs	SUPT6H_uc002hby.3_Frame_Shift_Del_p.T1709fs	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1709					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCGAAAGCACCCCCATGTC	0.617													-	27028588	C	-	27028588	7	5	161	1	0	1	0	1	0	0	0	0	15397	507	18	0	5268	0	SUPT6H	17	27028588	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	331815	27028588	54166622	639	88691											
ZNF207	7756	broad.mit.edu	37	chr17	30687623	30687623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttaacagaaagtcAaaaaaagaagcaacaagatg	6	4	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:30687623A>G	uc002hhh.3	+	4	462	c.314A>G	c.(313-315)CAA>CGA	p.Q105R	ZNF207_uc002hhj.3_Missense_Mutation_p.Q105R|ZNF207_uc002hhi.3_Missense_Mutation_p.Q105R|ZNF207_uc010csz.2_Missense_Mutation_p.Q108R|ZNF207_uc002hhk.1_Missense_Mutation_p.Q105R|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAGAAAGTCAAAAAAAGAAG	0.294													G	30687623	A	G	30687623	3	3	161	1	0	0	0	0	1	0	0	0	17762	130	5	3	328	3	ZNF207	17	30687623	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3659035	30687623	50507587	640	88692											
MYO1D	4642	broad.mit.edu	37	chr17	31048195	31048195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgggtttgatgcaacgaaCgtaatatggttcctaaagaa	10	5	0	2	rs143604215		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:31048195C>T	uc002hho.1	-	15	1771	c.1759G>A	c.(1759-1761)GTT>ATT	p.V587I	MYO1D_uc002hhp.1_Missense_Mutation_p.V587I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	587	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATGCAACGAACGTAATATGGT	0.383													T	31048195	C	T	31048195	3	4	161	1	0	0	0	0	1	0	0	0	10071	536	19	1	1293	1	MYO1D	17	31048195	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	360572	31048195	50147015	641	88693											
SLFN5	162394	broad.mit.edu	37	chr17	33591296	33591296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttaataaatacagaaatGcgccctttctctcaaggaat	6	9	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:33591296G>A	uc002hjf.3	+	4	1350	c.1233G>A	c.(1231-1233)ATG>ATA	p.M411I	SLFN5_uc010wcg.1_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	411					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATACAGAAATGCGCCCTTTCT	0.398													A	33591296	G	A	33591296	3	1	161	1	0	0	0	0	1	0	0	0	14737	1319	46	2	1243	2	SLFN5	17	33591296	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2543101	33591296	47603914	642	88694											
GPR179	440435	broad.mit.edu	37	chr17	36482500	36482500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagctggtccttggctcaaGccctgaaggtccttgtagtt	11	10	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:36482500G>T	uc002hpz.2	-	11	6973	c.6952C>A	c.(6952-6954)CTT>ATT	p.L2318I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2318	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGGCTCAAGCCCTGAAGGT	0.517													T	36482500	G	T	36482500	3	4	161	1	0	0	0	0	1	0	0	0	6674	971	34	5	155	5	GPR179	17	36482500	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2891204	36482500	44712710	643	88695											
GPR179	440435	broad.mit.edu	37	chr17	36484966	36484966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagattctctacctgtccCcagactcagcatttcctgcc	6	15	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:36484966C>A	uc002hpz.2	-	11	4507	c.4486G>T	c.(4486-4488)GGG>TGG	p.G1496W		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1496	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTACCTGTCCCCAGACTCAGC	0.493													A	36484966	C	A	36484966	3	1	161	1	0	0	0	0	1	0	0	0	6674	623	22	5	2621	5	GPR179	17	36484966	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2466	36484966	44710244	644	88696											
GRB7	2886	broad.mit.edu	37	chr17	37898611	37898611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccggaagacctttgcccAgcccctgggacccctcctgg	10	18	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:37898611A>G	uc002hsr.2	+	2	307	c.57A>G	c.(55-57)CCA>CCG	p.P19P	GRB7_uc002hss.2_Silent_p.P19P|GRB7_uc010cwc.2_Silent_p.P19P|GRB7_uc002hst.2_Silent_p.P19P	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	19					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)			ACCTTTGCCCAGCCCCTGGGA	0.622													G	37898611	A	G	37898611	2	3	161	1	0	0	0	0	0	0	0	1	6759	175	7	3		3	GRB7	17	37898611	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1413645	37898611	43296599	645	88697											
KRT23	25984	broad.mit.edu	37	chr17	39092584	39092584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcctcctccagggcgCgaaccttctccaggtaggag	13	13	1	0	rs148131200	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:39092584C>T	uc002hvm.1	-	2	861	c.272G>A	c.(271-273)CGC>CAC	p.R91H	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.R91H|KRT23_uc002hvn.1_Missense_Mutation_p.R91H	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	91	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CTCCAGGGCGCGAACCTTCTC	0.552													T	39092584	C	T	39092584	3	4	161	1	0	0	0	0	1	0	0	0	8460	768	27	1	1028	1	KRT23	17	39092584	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1193973	39092584	42102626	646	88698											
PLCD3	113026	broad.mit.edu	37	chr17	43196353	43196353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcttcagcagccgccGcaggaactcctcgatctcag	11	17	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:43196353G>A	uc002iib.2	-	5	856	c.742C>T	c.(742-744)CGG>TGG	p.R248W		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	248	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	AGCAGCCGCCGCAGGAACTCC	0.632													A	43196353	G	A	43196353	3	1	161	1	0	0	0	0	1	0	0	0	12032	1086	38	1	1670	1	PLCD3	17	43196353	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4103769	43196353	37998857	647	88699											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	161	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5237614	48433967	32761243	648	88700											
MBTD1	54799	broad.mit.edu	37	chr17	49270274	49270274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaatgtatcctcaagagaCgatgaataattcgagttact	7	7	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:49270274C>T	uc002itr.3	-	15	1903	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	MBTD1_uc002itp.3_Missense_Mutation_p.R356H|MBTD1_uc002itq.3_3'UTR	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	520	MBT 4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCTCAAGAGACGATGAATAAT	0.423													T	49270274	C	T	49270274	3	4	161	1	0	0	0	0	1	0	0	0	9360	536	19	1	339	1	MBTD1	17	49270274	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	836307	49270274	31924936	649	88701											
TRIM37	4591	broad.mit.edu	37	chr17	57165734	57165734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttacttcttctgcccaacGacaatttactagttctcgta	5	11	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:57165734G>A	uc002iwy.3	-	4	643	c.199C>T	c.(199-201)CGT>TGT	p.R67C	TRIM37_uc002iwz.3_Missense_Mutation_p.R67C|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Missense_Mutation_p.R33C	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	67						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCTGCCCAACGACAATTTACT	0.368									Mulibrey_Nanism				A	57165734	G	A	57165734	3	1	161	1	0	0	0	0	1	0	0	0	16508	1058	37	1	2787	1	TRIM37	17	57165734	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7895460	57165734	24029476	650	88702											
SKA2	348235	broad.mit.edu	37	chr17	57189649	57189649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatttcttcataaatctgGcatgtgaaatttgaattgct	6	7	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:57189649G>A	uc002ixd.2	-	4	631	c.355C>T	c.(355-357)CCA>TCA	p.P119S	uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_3'UTR|SKA2_uc002ixe.2_RNA	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	119					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						CATAAATCTGGCATGTGAAAT	0.338													A	57189649	G	A	57189649	3	1	161	1	0	0	0	0	1	0	0	0	14353	1203	42	2	14	2	SKA2	17	57189649	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	23915	57189649	24005561	651	88703											
C17orf71	55181	broad.mit.edu	37	chr17	57290392	57290392	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgagaagaggccaaacttCgttgatcgacaggcatccac	10	11	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:57290392C>T	uc002ixi.2	+	3	2250	c.2208C>T	c.(2206-2208)TTC>TTT	p.F736F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	736					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GGCCAAACTTCGTTGATCGAC	0.458													T	57290392	C	T	57290392	2	4	161	1	0	0	0	0	0	0	0	1	1878	883	31	1		1	C17orf71	17	57290392	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	100743	57290392	23904818	652	88704											
APPBP2	10513	broad.mit.edu	37	chr17	58539239	58539239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacccataatctagcagtgTatcagaatattttgggtgtt	9	6	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:58539239T>C	uc002iys.1	-	8	1156	c.868A>G	c.(868-870)ACA>GCA	p.T290A	APPBP2_uc010ddl.1_Missense_Mutation_p.T219A	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	290	TPR 4.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TCTAGCAGTGTATCAGAATAT	0.289													C	58539239	T	C	58539239	3	2	161	1	0	0	0	0	1	0	0	0	816	1638	57	3	913	3	APPBP2	17	58539239	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	1248847	58539239	22655971	653	88705											
BCAS3	54828	broad.mit.edu	37	chr17	59155774	59155774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaccatccatccctcAggccaaaccacagttatctc	3	16	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:59155774A>G	uc002iyv.3	+	22	2365	c.2256A>G	c.(2254-2256)TCA>TCG	p.S752S	BCAS3_uc002iyu.3_Silent_p.S737S|BCAS3_uc002iyw.3_Silent_p.S733S|BCAS3_uc002iyy.3_Silent_p.S508S|BCAS3_uc002iyz.3_Silent_p.S306S|BCAS3_uc002iza.3_Silent_p.S291S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	752						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCCATCCCTCAGGCCAAACCA	0.473													G	59155774	A	G	59155774	2	3	161	1	0	0	0	0	0	0	0	1	1352	175	7	3		3	BCAS3	17	59155774	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	616535	59155774	22039436	654	88706											
TBX4	9496	broad.mit.edu	37	chr17	59560530	59560530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtacaccagctatagcGtgcagacgatggagactgtg	13	11	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:59560530G>A	uc002izi.2	+	8	1336	c.1291G>A	c.(1291-1293)GTG>ATG	p.V431M	TBX4_uc010ddo.2_Missense_Mutation_p.V432M|TBX4_uc010woy.1_Missense_Mutation_p.V432M	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	431					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGCTATAGCGTGCAGACGAT	0.647													A	59560530	G	A	59560530	3	1	161	1	0	0	0	0	1	0	0	0	15657	1145	40	1	1321	1	TBX4	17	59560530	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	404756	59560530	21634680	655	88707											
PSMC5	5705	broad.mit.edu	37	chr17	61907223	61907223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctagttcgcctattgCgggaggagctacagctgctg	13	11	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:61907223C>T	uc002jcb.2	+	4	219	c.178C>T	c.(178-180)CGG>TGG	p.R60W	FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.R37W|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.R52W|PSMC5_uc002jcd.2_Missense_Mutation_p.R52W	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	60			R -> Q (in a colorectal cancer sample; somatic mutation).		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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	p.R60Q(1)		large_intestine(1)	1						TCGCCTATTGCGGGAGGAGCT	0.522													T	61907223	C	T	61907223	3	4	161	1	0	0	0	0	1	0	0	0	12690	759	27	1	192	1	PSMC5	17	61907223	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2346693	61907223	19287987	656	88708											
BPTF	2186	broad.mit.edu	37	chr17	65940454	65940455	+	In_Frame_Ins	INS	-	-	CAC													caacagccaccacagccagcINSaccaccaccaccactgtttc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:65940453_65940454G>GCAC	uc002jgf.3	+	19	6726_6727	c.6665_6666G>GCAC	c.(6664-6666)agc>aGCAC	p.S2222S	BPTF_uc002jge.3_In_Frame_Ins_p.S2348S|BPTF_uc021uca.1_In_Frame_Ins_p.S22S|BPTF_uc002jgg.3_In_Frame_Ins_p.S22S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2348					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	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)			ACCACAGCCAGCACCACCACCA	0.55													CAC	65940455	-	CAC	65940454	7	5	161	1	0	1	1	0	0	0	0	0	1495	709	25	0	7130	0	BPTF	17	65940454	In_Frame_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	4033231	65940454	15254756	657	88709											
ABCA9	10350	broad.mit.edu	37	chr17	67013900	67013900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctatgttctgtcgcctcAgtgaatgtaaaaagttatca	8	7	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:67013900A>C	uc002jhu.2	-	21	2941	c.2798T>G	c.(2797-2799)CTG>CGG	p.L933R	ABCA9_uc010dez.2_Missense_Mutation_p.L933R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	933					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CTGTCGCCTCAGTGAATGTAA	0.353													C	67013900	A	C	67013900	3	2	161	1	0	0	0	0	1	0	0	0	39	188	7	5	2152	5	ABCA9	17	67013900	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1073446	67013900	14181310	658	88710											
C17orf80	55028	broad.mit.edu	37	chr17	71232728	71232728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagtttcattctgtatcGcagtcaagtagtcaaagtct	7	9	5	0	rs35997714	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:71232728G>A	uc002jjm.3	+	3	1301	c.1107G>A	c.(1105-1107)TCG>TCA	p.S369S	C17orf80_uc010wqu.1_Silent_p.S369S|C17orf80_uc010dfj.2_Silent_p.S369S|C17orf80_uc002jjk.1_Silent_p.S369S|C17orf80_uc002jjl.3_Silent_p.S369S	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	369	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			ATTCTGTATCGCAGTCAAGTA	0.433													A	71232728	G	A	71232728	2	1	161	1	0	0	0	0	0	0	0	1	1885	1074	38	1		1	C17orf80	17	71232728	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4218828	71232728	9962482	659	88711											
GGA3	23163	broad.mit.edu	37	chr17	73239175	73239175	+	Frame_Shift_Del	DEL	T	T	-													cctcatcatcaaaaacagggTttttgggacgaggtggtgga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:73239174_73239174GT>G	uc002jni.2	-	5	537	c.498_498AC>C	c.(496-498)aacfs	p.N166fs	GGA3_uc002jnk.2_Frame_Shift_Del_p.N94fs|GGA3_uc002jnj.2_Frame_Shift_Del_p.N133fs|GGA3_uc010wry.2_Frame_Shift_Del_p.N94fs|GGA3_uc010wrw.2_Frame_Shift_Del_p.N44fs|GGA3_uc010wrx.2_Frame_Shift_Del_p.N44fs|GGA3_uc010wrz.2_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	166	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAAAAACAGGGTTTTTGGGAC	0.542													-	73239175	T	-	73239175	7	5	161	1	0	1	0	1	0	0	0	0	6354	1725	60	0	1810	0	GGA3	17	73239175	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2006447	73239175	7956035	660	88712											
GALR2	8811	broad.mit.edu	37	chr17	74072932	74072932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgcaccttcgtcttcaGctacctgcttcctgtgctgg	8	15	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:74072932G>A	uc002jqm.1	+	2	665	c.584G>A	c.(583-585)AGC>AAC	p.S195N	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	195	Helical; Name=5; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						TTCGTCTTCAGCTACCTGCTT	0.701													A	74072932	G	A	74072932	3	1	161	1	0	0	0	0	1	0	0	0	6228	971	34	2	590	2	GALR2	17	74072932	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	833757	74072932	7122278	661	88713											
RHBDF2	79651	broad.mit.edu	37	chr17	74473082	74473082	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgccgcgccggggcccgggGactggggctcggccatactc	17	15	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:74473082G>A	uc002jrq.1	-	9	1325	c.1032C>T	c.(1030-1032)GTC>GTT	p.V344V	RHBDF2_uc002jrp.1_Silent_p.V315V|RHBDF2_uc002jrr.1_Silent_p.V196V|RHBDF2_uc010wtf.1_Silent_p.V315V|RHBDF2_uc002jrs.1_Silent_p.V339V	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	344	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						GGGGCCCGGGGACTGGGGCTC	0.647													A	74473082	G	A	74473082	2	1	161	1	0	0	0	0	0	0	0	1	13320	1161	41	4		4	RHBDF2	17	74473082	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	400150	74473082	6722128	662	88714											
SYNGR2	9144	broad.mit.edu	37	chr17	76167919	76167919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaccccaacactgcctacGcctcctacccaggtgcatct	7	19	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:76167919G>A	uc002juu.1	+	4	604	c.577G>A	c.(577-579)GCC>ACC	p.A193T	SYNGR2_uc002jut.2_Silent_p.T222T|SYNGR2_uc002juv.1_3'UTR|SYNGR2_uc010dhi.1_RNA	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	193						integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CACTGCCTACGCCTCCTACCC	0.627													A	76167919	G	A	76167919	3	1	161	1	0	0	0	0	1	0	0	0	15446	1087	38	1	591	1	SYNGR2	17	76167919	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1694837	76167919	5027291	663	88715											
USP36	57602	broad.mit.edu	37	chr17	76831482	76831482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtcctgcgcccacgcGgaagacccgctcccacctca	11	18	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:76831482G>A	uc002jvz.1	-	4	680	c.355C>T	c.(355-357)CGC>TGC	p.R119C	USP36_uc002jwa.1_Missense_Mutation_p.R119C|USP36_uc002jwd.1_Missense_Mutation_p.R119C	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	119					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCGCCCACGCGGAAGACCCGC	0.592													A	76831482	G	A	76831482	3	1	161	1	0	0	0	0	1	0	0	0	17064	1116	39	1	3084	1	USP36	17	76831482	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	663563	76831482	4363728	664	88716											
CCDC40	55036	broad.mit.edu	37	chr17	78055376	78055376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagccaaatccaccgacGgcgagattgaggcctataag	10	11	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:78055376G>A	uc010dht.2	+	11	1621	c.1594G>A	c.(1594-1596)GGC>AGC	p.G532S	CCDC40_uc002jxm.3_Missense_Mutation_p.G315S|CCDC40_uc002jxn.3_5'UTR	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	532	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCCACCGACGGCGAGATTGA	0.542													A	78055376	G	A	78055376	3	1	161	1	0	0	0	0	1	0	0	0	2812	1116	39	1	1636	1	CCDC40	17	78055376	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1223894	78055376	3139834	665	88717											
AATK	9625	broad.mit.edu	37	chr17	79108177	79108177	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggcctcaccttgaacccGataccgcccttcttacagca	6	18	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:79108177G>A	uc010dia.2	-	2	260	c.180C>T	c.(178-180)ATC>ATT	p.I60I	MIR1250_hsa-mir-1250|MI0006385_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	60				MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2).		integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTTGAACCCGATACCGCCCT	0.657													A	79108177	G	A	79108177	2	1	161	1	0	0	0	0	0	0	0	1	26	1048	37	1		1	AATK	17	79108177	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1052801	79108177	2087033	666	88718											
LRRC45	201255	broad.mit.edu	37	chr17	79983283	79983283	+	Frame_Shift_Del	DEL	G	G	-													tggaataacgttggcctcctGgggggccgggccctcatgaa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:79983282_79983282TG>T	uc002kde.3	+	4	800	c.560_560TG>T	c.(559-561)ctgfs	p.L187fs	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	187						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)			GTTGGCCTCCTGGGGGGCCGG	0.627													-	79983283	G	-	79983283	7	5	161	1	0	1	0	1	0	0	0	0	9002	1335	47	0	579	0	LRRC45	17	79983283	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	875106	79983283	1211927	667	88719											
SLC16A3	9123	broad.mit.edu	37	chr17	80195528	80195528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggtgcggccctactcCgtctacctcttcagcttctc	10	15	4	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:80195528C>T	uc002kea.2	+	4	1021	c.882C>T	c.(880-882)TCC>TCT	p.S294S	SLC16A3_uc002kee.2_Silent_p.S294S|SLC16A3_uc002keb.2_Silent_p.S294S|SLC16A3_uc002kec.2_Silent_p.S294S|SLC16A3_uc002ked.2_Silent_p.S294S	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	294	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GGCCCTACTCCGTCTACCTCT	0.652													T	80195528	C	T	80195528	2	4	161	1	0	0	0	0	0	0	0	1	14409	639	23	1		1	SLC16A3	17	80195528	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	212245	80195528	999682	668	88720											
ENOSF1	55556	broad.mit.edu	37	chr18	683370	683370	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacatcccagcgctggttgGcatccatcatctgcaaaaag	9	13	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:683370G>C	uc002kku.3	-	11	827	c.752C>G	c.(751-753)GCC>GGC	p.A251G	ENOSF1_uc002kkt.3_Missense_Mutation_p.A169G|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.A272G|ENOSF1_uc002kkv.3_Missense_Mutation_p.A238G|ENOSF1_uc002kkw.3_Missense_Mutation_p.A70G|ENOSF1_uc002kkx.3_Missense_Mutation_p.A175G	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	251					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						GCGCTGGTTGGCATCCATCAT	0.572													C	683370	G	C	683370	3	2	161	1	0	0	0	0	1	0	0	0	5125	1203	42	5	603	5	ENOSF1	18	683370	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		683370	77393878	669	88721											
TGIF1	7050	broad.mit.edu	37	chr18	3452124	3452124	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacggcttttctggcgtcCccccgactctcccgcggcac	9	20	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:3452124C>A	uc002klz.2	+	1	534	c.147C>A	c.(145-147)TCC>TCA	p.S49S	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	49					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TTCTGGCGTCCCCCCGACTCT	0.701													A	3452124	C	A	3452124	2	1	161	1	0	0	0	0	0	0	0	1	15822	610	22	5		5	TGIF1	18	3452124	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2768754	3452124	74625124	670	88722											
ZNF519	162655	broad.mit.edu	37	chr18	14106215	14106215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagttaaatgtttgttatgActagttgtcaaatattggct	8	4	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:14106215A>G	uc002kst.1	-	3	477	c.324T>C	c.(322-324)AGT>AGC	p.S108S	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTGTTATGACTAGTTGTCA	0.348													G	14106215	A	G	14106215	2	3	161	1	0	0	0	0	0	0	0	1	17961	272	10	3		3	ZNF519	18	14106215	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	10654091	14106215	63971033	671	88723											
RIOK3	8780	broad.mit.edu	37	chr18	21053585	21053585	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaaagaaatgcacaatctCgcaaggtaaagaaaatattg	8	5	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:21053585C>T	uc002kui.3	+	8	1625	c.1008C>T	c.(1006-1008)CTC>CTT	p.L336L	RIOK3_uc010dls.2_Silent_p.L336L|RIOK3_uc010xas.1_Silent_p.L320L|RIOK3_uc010xat.1_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	336	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	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)					TGCACAATCTCGCAAGGTAAA	0.318													T	21053585	C	T	21053585	2	4	161	1	0	0	0	0	0	0	0	1	13379	871	31	1		1	RIOK3	18	21053585	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6947370	21053585	57023663	672	88724											
LAMA3	3909	broad.mit.edu	37	chr18	21426421	21426421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcccaacgtcatcgggCggcagtgcacccgctgtgca	13	16	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:21426421C>T	uc002kuq.2	+	31	3966	c.3880C>T	c.(3880-3882)CGG>TGG	p.R1294W	LAMA3_uc002kur.2_Missense_Mutation_p.R1294W	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1294	Laminin EGF-like 9.|Domain III 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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	CGTCATCGGGCGGCAGTGCAC	0.657													T	21426421	C	T	21426421	3	4	161	1	0	0	0	0	1	0	0	0	8607	759	27	1	4002	1	LAMA3	18	21426421	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	372836	21426421	56650827	673	88725											
DSG2	1829	broad.mit.edu	37	chr18	29101199	29101199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgttgaagagttgagTgcagcacgtaagagtctttt	14	5	2	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:29101199T>C	uc002kwu.3	+	5	704	c.516T>C	c.(514-516)AGT>AGC	p.S172S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	172	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AAGAGTTGAGTGCAGCACGTA	0.328													C	29101199	T	C	29101199	2	2	161	1	0	0	0	0	0	0	0	1	4777	1693	59	3		3	DSG2	18	29101199	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	7674778	29101199	48976049	674	88726											
MEP1B	4225	broad.mit.edu	37	chr18	29784177	29784177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaggaaataggcgggttgGgaagcaagaactttccatcg	14	6	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:29784177G>A	uc002kxj.3	+	7	448	c.401G>A	c.(400-402)GGG>GAG	p.G134E		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	134	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AGGCGGGTTGGGAAGCAAGAA	0.507													A	29784177	G	A	29784177	3	1	161	1	0	0	0	0	1	0	0	0	9476	1232	43	4	427	4	MEP1B	18	29784177	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	682978	29784177	48293071	675	88727											
PIK3C3	5289	broad.mit.edu	37	chr18	39629562	39629562	+	Frame_Shift_Del	DEL	A	A	-													ctggataaccttttgctaacAaaaacaggtaacaattaatg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:39629562delA	uc002lap.2	+	21	2314	c.2256delA	c.(2254-2256)ACAfs	p.T752fs	PIK3C3_uc010xcl.1_Frame_Shift_Del_p.T689fs|PIK3C3_uc002laq.2_Frame_Shift_Del_p.T237fs|PIK3C3_uc002lar.1_Frame_Shift_Del_p.T136fs	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	752	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			lung(8)|ovary(1)|breast(1)	10						TTTTGCTAACAAAAACAGGTA	0.353										TSP Lung(28;0.18)			-	39629562	A	-	39629562	7	5	161	1	0	1	0	1	0	0	0	0	11912	117	5	0	2338	0	PIK3C3	18	39629562	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	9845385	39629562	38447686	676	88728											
ST8SIA5	29906	broad.mit.edu	37	chr18	44272146	44272146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatacttgaactggttggcCtcagagatgttcatcgccca	10	10	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:44272146C>T	uc002lcj.1	-	3	865	c.297G>A	c.(295-297)GAG>GAA	p.E99E	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc010xcy.1_Silent_p.E135E|ST8SIA5_uc010xcz.1_Silent_p.E68E|ST8SIA5_uc010dno.1_Silent_p.E135E	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	99	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						ACTGGTTGGCCTCAGAGATGT	0.512													T	44272146	C	T	44272146	2	4	161	1	0	0	0	0	0	0	0	1	15234	680	24	4		4	ST8SIA5	18	44272146	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4642584	44272146	33805102	677	88729											
MBD1	4152	broad.mit.edu	37	chr18	47803200	47803200	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttagaccaacactcAcccaggagcagggaatgaag	9	13	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:47803200A>G	uc010dow.1	-	4	829	c.392_splice	c.e4+1	p.G131_splice	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Splice_Site_p.G131_splice|MBD1_uc010xdi.1_Splice_Site_p.G157_splice|MBD1_uc002leh.3_Splice_Site_p.G131_splice|MBD1_uc002len.2_Splice_Site_p.G131_splice|MBD1_uc002lei.3_Splice_Site_p.G131_splice|MBD1_uc002lej.3_Splice_Site_p.G131_splice|MBD1_uc002lek.3_Splice_Site_p.G131_splice|MBD1_uc002lel.3_Splice_Site_p.G131_splice|MBD1_uc002lem.3_Splice_Site_p.G131_splice|MBD1_uc010xdj.1_Splice_Site_p.G131_splice|MBD1_uc010xdk.1_Splice_Site_p.G131_splice|MBD1_uc010dox.1_Splice_Site_p.G131_splice|MBD1_uc002leo.2_Splice_Site_p.G131_splice	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACCAACACTCACCCAGGAGCA	0.597													G	47803200	A	G	47803200	5	3	161	1	0	0	0	0	0	0	1	0	9342	173	6	3	1669	3	MBD1	18	47803200	Splice_Site	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	3531054	47803200	30274048	678	88730											
ONECUT2	9480	broad.mit.edu	37	chr18	55103659	55103659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgggcaacgggctaggCggcctccacaacgcgcagca	14	16	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:55103659C>T	uc002lgo.2	+	1	743	c.711C>T	c.(709-711)GGC>GGT	p.G237G		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	237					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACGGGCTAGGCGGCCTCCACA	0.657													T	55103659	C	T	55103659	2	4	161	1	0	0	0	0	0	0	0	1	10869	755	27	1		1	ONECUT2	18	55103659	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	7300459	55103659	22973589	679	88731											
FBXO15	201456	broad.mit.edu	37	chr18	71796740	71796740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatggccattttttgccatAccatataacagtaactgatg	7	9	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:71796740A>G	uc002lle.2	-	5	793	c.457T>C	c.(457-459)TAT>CAT	p.Y153H	FBXO15_uc002llf.2_Missense_Mutation_p.Y229H	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	153										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTTTTGCCATACCATATAACA	0.368													G	71796740	A	G	71796740	3	3	161	1	0	0	0	0	1	0	0	0	5728	391	14	3	871	3	FBXO15	18	71796740	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	16693081	71796740	6280508	680	88732											
UQCR11	10975	broad.mit.edu	37	chr19	1599523	1599523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccacaccagccccacGgcgcccacagcgccccatgt	10	21	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:1599523G>A	uc002ltm.2	-	2	110	c.87C>T	c.(85-87)GCC>GCT	p.A29A		NM_006830	NP_006821	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, 6.4kDa	29	Helical; (Potential).				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			ovary(1)|breast(1)	2						CCAGCCCCACGGCGCCCACAG	0.587													A	1599523	G	A	1599523	2	1	161	1	0	0	0	0	0	0	0	1	17014	1103	39	1		1	UQCR11	19	1599523	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		1599523	57529460	681	88733											
GNA11	2767	broad.mit.edu	37	chr19	3110205	3110205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgcatcatccacggcgcCggctactcggaggaggacaa	13	13	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:3110205C>T	uc002lxd.2	+	2	437	c.195C>T	c.(193-195)GCC>GCT	p.A65A		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	65					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			eye(70)|skin(16)	86		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)		TCCACGGCGCCGGCTACTCGG	0.662			Mis		uveal melanoma								T	3110205	C	T	3110205	2	4	161	1	0	0	0	0	0	0	0	1	6499	639	23	1		1	GNA11	19	3110205	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1510682	3110205	56018778	682	88734											
C19orf29	58509	broad.mit.edu	37	chr19	3613305	3613305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtccacctcggcctccgCggggccgccctccgaggagg	15	19	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:3613305C>T	uc002lyh.2	-	9	1590	c.1537G>A	c.(1537-1539)GCG>ACG	p.A513T	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.A361T|C19orf29_uc002lyi.3_Missense_Mutation_p.A513T|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	513						catalytic step 2 spliceosome	protein binding				0		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)		TCGGCCTCCGCGGGGCCGCCC	0.781													T	3613305	C	T	3613305	3	4	161	1	0	0	0	0	1	0	0	0	1918	768	27	1	747	1	C19orf29	19	3613305	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	503100	3613305	55515678	683	88735											
UBXN6	80700	broad.mit.edu	37	chr19	4453490	4453490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcggggctcccgctgaCggtggcttcggcttgaagtt	16	12	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:4453490C>T	uc002man.1	-	3	373	c.277G>A	c.(277-279)GTC>ATC	p.V93I	UBXN6_uc010dty.1_Missense_Mutation_p.V40I|UBXN6_uc002mam.1_Missense_Mutation_p.V40I	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	93						microtubule organizing center|nucleus	protein binding				0						CTCCCGCTGACGGTGGCTTCG	0.632													T	4453490	C	T	4453490	3	4	161	1	0	0	0	0	1	0	0	0	16914	536	19	1	1084	1	UBXN6	19	4453490	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	840185	4453490	54675493	684	88736											
HDGFRP2	84717	broad.mit.edu	37	chr19	4488752	4488752	+	Frame_Shift_Del	DEL	G	G	-													tgacgaggacgatgaggaccGgggggtcatggccgtcacag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:4488752delG	uc002mao.2	+	4	461	c.368delG	c.(367-369)CGGfs	p.R123fs	HDGFRP2_uc002map.2_Frame_Shift_Del_p.R123fs|HDGFRP2_uc010dtz.1_RNA	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	123					transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						GATGAGGACCGGGGGGTCATG	0.657													-	4488752	G	-	4488752	7	5	161	1	0	1	0	1	0	0	0	0	7020	1116	39	0	382	0	HDGFRP2	19	4488752	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	35262	4488752	54640231	685	88737											
SLC25A23	79085	broad.mit.edu	37	chr19	6444302	6444304	+	In_Frame_Del	DEL	TTC	TTC	-													tgtactgctgaagccaccagTtcttcagagtctggagtgga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:6444302_6444304delTTC	uc002mex.1	-	9	1222_1224	c.1080_1082delGAA	c.(1078-1083)AAGAAC>AAC	p.K360del	SLC25A23_uc010duu.1_RNA|SLC25A23_uc002meu.2_RNA|SLC25A23_uc002mev.2_RNA|SLC25A23_uc002mew.1_RNA|SLC25A23_uc010xjd.1_In_Frame_Del_p.K121del	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	360	Solcar 2.|Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						AAGCCACCAGTTCTTCAGAGTCT	0.606													-	6444304	TTC	-	6444302	7	5	161	1	0	1	0	1	0	0	0	0	14486	1725	60	0	332	0	SLC25A23	19	6444302	In_Frame_Del	DEL	TTC	TCGA-CD-A4MJ-01A-11D-A25D-08	1955550	6444302	52684681	686	88738											
PNPLA6	10908	broad.mit.edu	37	chr19	7607930	7607930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagagtcttgctgcaccAcgccaaagctggcaccatca	9	15	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:7607930A>G	uc010xjq.1	+	15	1790	c.1595A>G	c.(1594-1596)CAC>CGC	p.H532R	PNPLA6_uc002mgq.1_Missense_Mutation_p.H484R|PNPLA6_uc010xjp.1_Intron|PNPLA6_uc002mgr.1_Missense_Mutation_p.H484R|PNPLA6_uc002mgs.2_Missense_Mutation_p.H523R	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	523	cNMP 2.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						TTGCTGCACCACGCCAAAGCT	0.627													G	7607930	A	G	7607930	3	3	161	1	0	0	0	0	1	0	0	0	12169	159	6	3	1649	3	PNPLA6	19	7607930	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1163628	7607930	51521053	687	88739											
HNRNPM	4670	broad.mit.edu	37	chr19	8530239	8530239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatgccaggagagcaaTgcaaaaggtgatggctacga	13	7	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:8530239T>C	uc010dwe.2	+	6	550	c.470T>C	c.(469-471)ATG>ACG	p.M157T	HNRNPM_uc010dwc.1_Missense_Mutation_p.M157T|HNRNPM_uc010xke.1_Missense_Mutation_p.M157T|HNRNPM_uc010dwd.2_Missense_Mutation_p.M157T|HNRNPM_uc002mka.2_Missense_Mutation_p.M37T	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	157					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				0						AGGAGAGCAATGCAAAAGGTG	0.473													C	8530239	T	C	8530239	3	2	161	1	0	0	0	0	1	0	0	0	7271	1464	51	3	492	3	HNRNPM	19	8530239	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	922309	8530239	50598744	688	88740											
PRAM1	84106	broad.mit.edu	37	chr19	8556025	8556025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctggcggcttgctgAactgagggcgcttcatctgg	15	12	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:8556025A>G	uc002mkd.2	-	5	1613	c.1593T>C	c.(1591-1593)GTT>GTC	p.V531V	PRAM1_uc002mkc.2_Silent_p.V530V	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	579							lipid binding|protein binding				0						CGGCTTGCTGAACTGAGGGCG	0.612													G	8556025	A	G	8556025	2	3	161	1	0	0	0	0	0	0	0	1	12423	233	9	3		3	PRAM1	19	8556025	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	25786	8556025	50572958	689	88741											
MUC16	94025	broad.mit.edu	37	chr19	8993492	8993492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagggcctgtggggtcaGggcggtgggtgcagatggca	21	9	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:8993492G>T	uc002mkp.2	-	66	41801	c.41597C>A	c.(41596-41598)CCT>CAT	p.P13866H	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.P683H|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTGGGGTCAGGGCGGTGGGT	0.592													T	8993492	G	T	8993492	3	4	161	1	0	0	0	0	1	0	0	0	9973	1000	35	5	2002	5	MUC16	19	8993492	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	437467	8993492	50135491	690	88742											
MUC16	94025	broad.mit.edu	37	chr19	9069762	9069762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgagtgtggaaatctcTgagtcacaggtgagtgagtc	13	8	3	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9069762T>C	uc002mkp.2	-	3	17888	c.17684A>G	c.(17683-17685)CAG>CGG	p.Q5895R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5897	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGAAATCTCTGAGTCACAGG	0.512													C	9069762	T	C	9069762	3	2	161	1	0	0	0	0	1	0	0	0	9973	1580	55	3	26167	3	MUC16	19	9069762	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	76270	9069762	50059221	691	88743											
ZNF699	374879	broad.mit.edu	37	chr19	9408627	9408627	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggtcctcctcttgtTcccactgggagatcagatgg	11	12	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9408627T>A	uc002mlc.1	-	3	215	c.215A>T	c.(214-216)GAA>GTA	p.E72V		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCCTCTTGTTCCCACTGGGA	0.488													A	9408627	T	A	9408627	3	1	161	1	0	0	0	0	1	0	0	0	18098	1783	62	5	1725	5	ZNF699	19	9408627	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	338865	9408627	49720356	692	88744											
ZNF562	54811	broad.mit.edu	37	chr19	9763836	9763836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtgtatagcaaggcccGtgtactgagtgaaggcttgg	15	6	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9763836G>A	uc010xks.1	-	6	1233	c.1070C>T	c.(1069-1071)ACG>ATG	p.T357M	ZNF562_uc002mly.2_Missense_Mutation_p.T357M|ZNF562_uc002mlx.2_Missense_Mutation_p.T285M|ZNF562_uc010xkt.1_Missense_Mutation_p.T320M|ZNF562_uc010xku.1_Missense_Mutation_p.T288M|ZNF562_uc010xkv.1_Missense_Mutation_p.T356M|ZNF562_uc010xkw.1_Missense_Mutation_p.T241M	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	357	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCAAGGCCCGTGTACTGAGT	0.428													A	9763836	G	A	9763836	3	1	161	1	0	0	0	0	1	0	0	0	17990	1145	40	1	214	1	ZNF562	19	9763836	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	355209	9763836	49365147	693	88745											
ZNF846	162993	broad.mit.edu	37	chr19	9868448	9868448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaatgggtactaaggccCgaggattgagtgaaagcttt	12	6	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9868448C>T	uc002mmb.1	-	6	1836	c.1305G>A	c.(1303-1305)TCG>TCA	p.S435S	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.S306S	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	435	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TACTAAGGCCCGAGGATTGAG	0.408													T	9868448	C	T	9868448	2	4	161	1	0	0	0	0	0	0	0	1	18189	639	23	1		1	ZNF846	19	9868448	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	104612	9868448	49260535	694	88746											
MRPL4	51073	broad.mit.edu	37	chr19	10368906	10368906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccccgcaggaggtgttGcccatggcccccggggcccc	14	18	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:10368906G>A	uc002mnm.2	+	7	608	c.454G>A	c.(454-456)GCC>ACC	p.A152T	MRPL4_uc002mnn.2_Missense_Mutation_p.A152T|MRPL4_uc002mno.2_Missense_Mutation_p.A152T	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4 isoform a	152					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		AGGAGGTGTTGCCCATGGCCC	0.637													A	10368906	G	A	10368906	3	1	161	1	0	0	0	0	1	0	0	0	9803	1319	46	2	476	2	MRPL4	19	10368906	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	500458	10368906	48760077	695	88747											
ILF3	3609	broad.mit.edu	37	chr19	10794602	10794602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctttccaggtgctgggtAtggaagctatgggtacggag	15	8	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:10794602A>G	uc002mpn.2	+	17	2332	c.2015A>G	c.(2014-2016)TAT>TGT	p.Y672C	ILF3_uc002mpm.2_Missense_Mutation_p.Y676C|ILF3_uc002mpl.2_Missense_Mutation_p.Y672C|ILF3_uc002mpk.2_Missense_Mutation_p.Y672C|ILF3_uc010xli.1_Missense_Mutation_p.Y270C|ILF3_uc002mpo.2_Missense_Mutation_p.Y676C|ILF3_uc002mpp.2_Missense_Mutation_p.Y497C|ILF3_uc002mpq.2_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	672	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|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGTGCTGGGTATGGAAGCTAT	0.592													G	10794602	A	G	10794602	3	3	161	1	0	0	0	0	1	0	0	0	7712	449	16	3	2089	3	ILF3	19	10794602	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	425696	10794602	48334381	696	88748											
RGL3	57139	broad.mit.edu	37	chr19	11505106	11505106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagacagacagagtgttcCgggtcccctctttccgccgc	13	14	1	3	rs142089258		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:11505106C>T	uc002mrp.2	-	19	2169	c.2105G>A	c.(2104-2106)CGG>CAG	p.R702Q	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mro.2_Missense_Mutation_p.R708Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	702	Interaction with HRAS, MRAS and RIT1 (By similarity).				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CAGAGTGTTCCGGGTCCCCTC	0.577													T	11505106	C	T	11505106	3	4	161	1	0	0	0	0	1	0	0	0	13278	652	23	1	31	1	RGL3	19	11505106	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	710504	11505106	47623877	697	88749											
MAST1	22983	broad.mit.edu	37	chr19	12978559	12978559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaagcgattctccgcGtccgaggccagtttcctgga	12	13	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:12978559G>A	uc002mvm.2	+	20	2462	c.2334G>A	c.(2332-2334)GCG>GCA	p.A778A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	778					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GATTCTCCGCGTCCGAGGCCA	0.687													A	12978559	G	A	12978559	2	1	161	1	0	0	0	0	0	0	0	1	9324	1132	40	1		1	MAST1	19	12978559	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1473453	12978559	46150424	698	88750											
MRI1	84245	broad.mit.edu	37	chr19	13882968	13882968	+	Frame_Shift_Del	DEL	C	C	-													gaatcctgccttcgatgtcaCcccccacgacctcatcactg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:13882967_13882967AC>A	uc002mxe.3	+	5	1048	c.982_982AC>A	c.(982-984)accfs	p.T328fs	MRI1_uc002mxf.3_Frame_Shift_Del_p.T281fs|C19orf53_uc002mxg.3_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	328					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTTCGATGTCACCCCCCACGA	0.557													-	13882968	C	-	13882968	7	5	161	1	0	1	0	1	0	0	0	0	9770	507	18	0	1098	0	MRI1	19	13882968	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	904409	13882968	45246015	699	88751											
LPHN1	22859	broad.mit.edu	37	chr19	14288489	14288489	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccggggcaccgcagctcGatggggtagccttcacacgc	14	15	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:14288489G>A	uc010xnn.1	-	3	434	c.138C>T	c.(136-138)ATC>ATT	p.I46I	LPHN1_uc010xno.1_Silent_p.I46I	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	46	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						ACCGCAGCTCGATGGGGTAGC	0.652													A	14288489	G	A	14288489	2	1	161	1	0	0	0	0	0	0	0	1	8915	1048	37	1		1	LPHN1	19	14288489	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	405521	14288489	44840494	700	88752											
PLVAP	83483	broad.mit.edu	37	chr19	17488022	17488022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaagaggaagaagtagcGcaggtaataccagcagcccc	13	10	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:17488022G>A	uc002ngk.1	-	1	126	c.76C>T	c.(76-78)CGC>TGC	p.R26C		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	26	Cytoplasmic (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						AAGAAGTAGCGCAGGTAATAC	0.607													A	17488022	G	A	17488022	3	1	161	1	0	0	0	0	1	0	0	0	12116	1087	38	1	1276	1	PLVAP	19	17488022	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3199533	17488022	41640961	701	88753											
FAM129C	199786	broad.mit.edu	37	chr19	17651282	17651282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgtgcagaccctgctgcGcaccgtggaagcctcgctcg	14	15	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:17651282G>A	uc010xpr.1	+	10	1292	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	FAM129C_uc010xpq.1_Missense_Mutation_p.R385H|FAM129C_uc002ngy.3_Missense_Mutation_p.R111H|FAM129C_uc010xpu.1_Missense_Mutation_p.R111H|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.R111H|FAM129C_uc002nhb.2_5'UTR	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	385											0						ACCCTGCTGCGCACCGTGGAA	0.711													A	17651282	G	A	17651282	3	1	161	1	0	0	0	0	1	0	0	0	5438	1087	38	1	1192	1	FAM129C	19	17651282	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	163260	17651282	41477701	702	88754											
SF4	57794	broad.mit.edu	37	chr19	19390193	19390193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatcatgtcgtacatctGctgcatctgcagggcacact	9	12	3	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:19390193G>A	uc002nmh.2	-	10	1359	c.1357C>T	c.(1357-1359)CAG>TAG	p.Q453*	SF4_uc002nmf.2_Nonsense_Mutation_p.Q3*|SF4_uc002nmg.2_Nonsense_Mutation_p.Q3*|SF4_uc002nmi.2_Nonsense_Mutation_p.Q243*|SF4_uc002nmj.2_Nonsense_Mutation_p.Q243*|SF4_uc002nme.2_Nonsense_Mutation_p.Q3*	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	453	Gln/Met-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						TCGTACATCTGCTGCATCTGC	0.647													A	19390193	G	A	19390193	4	1	161	1	0	0	0	0	0	1	0	0	14155	1328	46	2	600	2	SF4	19	19390193	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1738911	19390193	39738790	703	88755											
ZNF43	7594	broad.mit.edu	37	chr19	21991363	21991363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtaaggtttgaggaccgGctaaaagctttgccacattc	10	8	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:21991363G>A	uc002nqj.2	-	4	1606	c.1476C>T	c.(1474-1476)AGC>AGT	p.S492S	ZNF43_uc010ecv.2_Silent_p.S486S|ZNF43_uc002nql.2_Silent_p.S486S|ZNF43_uc002nqm.2_Silent_p.S486S|ZNF43_uc002nqk.2_Silent_p.S422S	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	492	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGAGGACCGGCTAAAAGCTT	0.373													A	21991363	G	A	21991363	2	1	161	1	0	0	0	0	0	0	0	1	17900	1194	42	2		2	ZNF43	19	21991363	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2601170	21991363	37137620	704	88756											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	161	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	10663	22002026	37126957	705	88757											
PLEKHF1	79156	broad.mit.edu	37	chr19	30164800	30164800	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccagcgcatcgcggcagtGgagagctgcttcggggcctc	16	13	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30164800G>T	uc002nsh.3	+	2	156	c.54G>T	c.(52-54)GTG>GTT	p.V18V	PLEKHF1_uc002nsi.3_Silent_p.V103V	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	18					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	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)			TCGCGGCAGTGGAGAGCTGCT	0.662													T	30164800	G	T	30164800	2	4	161	1	0	0	0	0	0	0	0	1	12066	1335	47	5		5	PLEKHF1	19	30164800	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	8162774	30164800	28964183	706	88758											
PLEKHF1	79156	broad.mit.edu	37	chr19	30165237	30165237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatgcgctgcacgcagaCgcgcttctctgccctcacga	10	17	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30165237C>T	uc002nsh.3	+	2	593	c.491C>T	c.(490-492)ACG>ATG	p.T164M	PLEKHF1_uc002nsi.3_Missense_Mutation_p.T249M	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	164	FYVE-type.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	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)			TGCACGCAGACGCGCTTCTCT	0.721													T	30165237	C	T	30165237	3	4	161	1	0	0	0	0	1	0	0	0	12066	536	19	1	493	1	PLEKHF1	19	30165237	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	437	30165237	28963746	707	88759											
C19orf2	8725	broad.mit.edu	37	chr19	30503219	30503219	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgttgtgaatggagaAtatgtccctcgcaaatccat	10	7	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30503219A>T	uc002nsr.2	+	10	1236	c.1206A>T	c.(1204-1206)GAA>GAT	p.E402D	C19orf2_uc002nsq.2_Missense_Mutation_p.E384D|C19orf2_uc002nss.2_Missense_Mutation_p.E362D|C19orf2_uc002nst.2_Missense_Mutation_p.E326D	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	402					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		TGAATGGAGAATATGTCCCTC	0.393													T	30503219	A	T	30503219	3	4	161	1	0	0	0	0	1	0	0	0	1911	98	4	5	1244	5	C19orf2	19	30503219	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	337982	30503219	28625764	708	88760											
ZNF536	9745	broad.mit.edu	37	chr19	30935268	30935268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagcgtgcaggaggacGcggtggccccggcggcgggc	20	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30935268G>A	uc002nsu.1	+	2	937	c.799G>A	c.(799-801)GCG>ACG	p.A267T	ZNF536_uc010edd.1_Missense_Mutation_p.A267T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAGGAGGACGCGGTGGCCCC	0.697													A	30935268	G	A	30935268	3	1	161	1	0	0	0	0	1	0	0	0	17971	1087	38	1	801	1	ZNF536	19	30935268	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	432049	30935268	28193715	709	88761											
MLL4	9757	broad.mit.edu	37	chr19	36211899	36211899	+	Frame_Shift_Del	DEL	C	C	-													cggcgatttatggatgaagaCccccccaaacccccaaaggt							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:36211899delC	uc010eei.2	+	3	1650	c.1650delC	c.(1648-1650)GACfs	p.D550fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	550	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGATGAAGACCCCCCCAAAC	0.592													-	36211899	C	-	36211899	7	5	161	1	0	1	0	1	0	0	0	0	9623	506	18	0	1660	0	MLL4	19	36211899	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5276631	36211899	22917084	710	88762											
NPHS1	4868	broad.mit.edu	37	chr19	36340035	36340035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccccacgctgtggaCaccggctggccattctggag	13	14	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:36340035C>T	uc002oby.2	-	8	855	c.855G>A	c.(853-855)GTG>GTA	p.V285V		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	285	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)			ACGCTGTGGACACCGGCTGGC	0.677													T	36340035	C	T	36340035	2	4	161	1	0	0	0	0	0	0	0	1	10582	465	17	4		4	NPHS1	19	36340035	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	128136	36340035	22788948	711	88763											
ARHGEF1	9138	broad.mit.edu	37	chr19	42410639	42410639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagcttctgtttccggCggaggaagacaatggggcgg	17	8	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:42410639C>T	uc002orx.2	+	27	2631	c.2522C>T	c.(2521-2523)GCG>GTG	p.A841V	ARHGEF1_uc002ory.2_Missense_Mutation_p.A808V|ARHGEF1_uc002orz.2_Missense_Mutation_p.A679V|ARHGEF1_uc002osa.2_Missense_Mutation_p.A856V|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.A500V|ARHGEF1_uc002ose.2_Missense_Mutation_p.A285V	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	841					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			ovary(3)|large_intestine(1)	4		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)		CTGTTTCCGGCGGAGGAAGAC	0.672													T	42410639	C	T	42410639	3	4	161	1	0	0	0	0	1	0	0	0	893	768	27	1	2673	1	ARHGEF1	19	42410639	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6070604	42410639	16718344	712	88764											
ERF	2077	broad.mit.edu	37	chr19	42754583	42754583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttgatgacgaattcccCgtagtccccctgccaggcaa	9	14	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:42754583C>T	uc002ote.3	-	2	315	c.157G>A	c.(157-159)GGG>AGG	p.G53R	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	53	ETS.				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			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				ACGAATTCCCCGTAGTCCCCC	0.617													T	42754583	C	T	42754583	3	4	161	1	0	0	0	0	1	0	0	0	5221	652	23	1	1501	1	ERF	19	42754583	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	343944	42754583	16374400	713	88765											
TMEM145	284339	broad.mit.edu	37	chr19	42819216	42819216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggacacgacacttctcCgctgatgagtttggtgagca	11	10	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:42819216C>T	uc002otk.1	+	6	544	c.492C>T	c.(490-492)TCC>TCT	p.S164S		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	164						integral to membrane					0		Prostate(69;0.00682)				GACACTTCTCCGCTGATGAGT	0.582													T	42819216	C	T	42819216	2	4	161	1	0	0	0	0	0	0	0	1	16056	639	23	1		1	TMEM145	19	42819216	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	64633	42819216	16309767	714	88766											
PSG8	440533	broad.mit.edu	37	chr19	43269833	43269833	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcctgcctccttctgcGctgagcttcttcccggggca	11	16	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:43269833G>A	uc002ouo.2	-	1	1	c.-97_splice	c.e1-1		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Splice_Site|PSG8_uc002ouh.2_Splice_Site|PSG8_uc010ein.2_Splice_Site|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform							extracellular region					0		Prostate(69;0.00899)				CTCCTTCTGCGCTGAGCTTCT	0.602													A	43269833	G	A	43269833	5	1	161	1	0	0	0	0	0	0	1	0	12661	1102	38	1		1	PSG8	19	43269833	Splice_Site	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	450617	43269833	15859150	715	88767											
PLAUR	5329	broad.mit.edu	37	chr19	44156377	44156377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcggagagggcctcacCgtgagtgccggtggctacca	15	13	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:44156377C>T	uc002oxf.1	-	6	984	c.754G>A	c.(754-756)GAA>AAA	p.E252K	PLAUR_uc002oxd.1_Missense_Mutation_p.E252K|PLAUR_uc002oxe.1_Missense_Mutation_p.E247K|PLAUR_uc002oxg.1_Missense_Mutation_p.E207K	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	252	UPAR/Ly6 3.			E -> G (in Ref. 12; AAF71751).	attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGGGCCTCACCGTGAGTGCCG	0.557											OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44156377	C	T	44156377	3	4	161	1	0	0	0	0	1	0	0	0	12023	666	23	1	357	1	PLAUR	19	44156377	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	886544	44156377	14972606	716	88768											
ZNF283	284349	broad.mit.edu	37	chr19	44352729	44352729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctacaaatataacgaatGtggggaagcctttctgtgga	10	8	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:44352729G>A	uc002oxr.3	+	7	2244	c.1976G>A	c.(1975-1977)TGT>TAT	p.C659Y	ZNF283_uc002oxp.3_Missense_Mutation_p.C520Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TATAACGAATGTGGGGAAGCC	0.343													A	44352729	G	A	44352729	3	1	161	1	0	0	0	0	1	0	0	0	17817	1377	48	4	1990	4	ZNF283	19	44352729	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	196352	44352729	14776254	717	88769											
PPP1R13L	10848	broad.mit.edu	37	chr19	45889359	45889361	+	In_Frame_Del	DEL	AGG	AGG	-													ccccggtcagcgccgcgtccAggaggagcaccagagggttg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:45889359_45889361delAGG	uc002pbn.2	-	9	1970_1972	c.1893_1895delCCT	c.(1891-1896)CTCCTG>CTG	p.631_632LL>L	PPP1R13L_uc002pbm.2_In_Frame_Del_p.210_211LL>L|PPP1R13L_uc002pbo.2_In_Frame_Del_p.631_632LL>L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	631_632					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCCGCGTCCAGGAGGAGCACCA	0.734													-	45889361	AGG	-	45889359	7	5	161	1	0	1	0	1	0	0	0	0	12358	188	7	0	611	0	PPP1R13L	19	45889359	In_Frame_Del	DEL	AGG	TCGA-CD-A4MJ-01A-11D-A25D-08	1536630	45889359	13239624	718	88770											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895249	45895249	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagatccctcagtgatGggggacagctctggctccgg	14	13	3	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:45895249G>T	uc002pbn.2	-	8	1781	c.1704C>A	c.(1702-1704)CCC>CCA	p.P568P	PPP1R13L_uc002pbm.2_Silent_p.P147P|PPP1R13L_uc002pbo.2_Silent_p.P568P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	568	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCAGTGATGGGGGACAGCT	0.692													T	45895249	G	T	45895249	2	4	161	1	0	0	0	0	0	0	0	1	12358	1335	47	5		5	PPP1R13L	19	45895249	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	5890	45895249	13233734	719	88771											
PPP1R13L	10848	broad.mit.edu	37	chr19	45900173	45900173	+	Frame_Shift_Del	DEL	G	G	-													ggcgacgacggccgtcccttGggggacagcgggctgtaggg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:45900172_45900172TG>T	uc002pbn.3	-	3	420	c.343_343CA>A	c.(343-345)aagfs	p.K115fs	PPP1R13L_uc002pbo.3_Frame_Shift_Del_p.K115fs|PPP1R13L_uc002pbp.2_Frame_Shift_Del_p.K115fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	115	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)		GGCCGTCCCTTGGGGGACAGC	0.746													-	45900173	G	-	45900173	7	5	161	1	0	1	0	1	0	0	0	0	12358	1335	47	0	2184	0	PPP1R13L	19	45900173	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	4924	45900173	13228810	720	88772											
PRKD2	25865	broad.mit.edu	37	chr19	47181830	47181830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctggttgagcagcacctCgggtgccaggtaggccggcg	17	13	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:47181830C>T	uc002pfh.2	-	17	2503	c.2161G>A	c.(2161-2163)GAG>AAG	p.E721K	PRKD2_uc002pfd.2_Missense_Mutation_p.E95K|PRKD2_uc010eks.2_Missense_Mutation_p.E124K|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.E241K|PRKD2_uc002pff.2_Missense_Mutation_p.E241K|PRKD2_uc002pfg.2_Missense_Mutation_p.E564K|PRKD2_uc002pfi.2_Missense_Mutation_p.E721K|PRKD2_uc002pfj.2_Missense_Mutation_p.E721K|PRKD2_uc010xye.1_Missense_Mutation_p.E721K|PRKD2_uc002pfk.2_Missense_Mutation_p.E564K	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	721	Protein kinase.				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			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		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)		AGCAGCACCTCGGGTGCCAGG	0.617													T	47181830	C	T	47181830	3	4	161	1	0	0	0	0	1	0	0	0	12519	893	31	1	487	1	PRKD2	19	47181830	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1281657	47181830	11947153	721	88773											
RASIP1	54922	broad.mit.edu	37	chr19	49238619	49238619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctccgctcctgctgcCgccgccgccgcccctgaagg	12	20	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49238619C>T	uc002pki.2	-	4	1210	c.1013G>A	c.(1012-1014)CGG>CAG	p.R338Q		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	338					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		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)		CTCCTGCTGCCGCCGCCGCCG	0.657													T	49238619	C	T	49238619	3	4	161	1	0	0	0	0	1	0	0	0	13078	652	23	1	1914	1	RASIP1	19	49238619	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2056789	49238619	9890364	722	88774											
BAX	581	broad.mit.edu	37	chr19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G													aggatcgagcagggcgaatgINSgggggggaggcacccgagct					rs141306106	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|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	p.E41fs*19(1)|p.R37*(1)		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)		GCAGGGCGAATGGGGGGGGAGG	0.594													G	49458972	-	G	49458971	7	5	161	1	0	1	1	0	0	0	0	0	1328	1348	47	0	124	0	BAX	19	49458971	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	220352	49458971	9670012	723	88775											
CCDC155	147872	broad.mit.edu	37	chr19	49897748	49897748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgtacctccgggagcGgcctgaggaggcaaggctgg	17	12	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49897748G>A	uc002pnm.1	+	3	233	c.59G>A	c.(58-60)CGG>CAG	p.R20Q	CCDC155_uc002pnl.1_Missense_Mutation_p.R20Q|CCDC155_uc010emx.1_5'UTR	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	20						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2						CTCCGGGAGCGGCCTGAGGAG	0.612													A	49897748	G	A	49897748	3	1	161	1	0	0	0	0	1	0	0	0	2788	1116	39	1	65	1	CCDC155	19	49897748	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	438777	49897748	9231235	724	88776											
SLC17A7	57030	broad.mit.edu	37	chr19	49934675	49934675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgcgagtagccgaccAccaacagcagcgtggcttcc	13	13	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49934675A>G	uc002pnp.2	-	10	1353	c.1181T>C	c.(1180-1182)GTG>GCG	p.V394A	SLC17A7_uc002pno.2_Intron	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	394	Helical; (Potential).				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			ovary(1)|pancreas(1)|skin(1)	3		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)		GTAGCCGACCACCAACAGCAG	0.587													G	49934675	A	G	49934675	3	3	161	1	0	0	0	0	1	0	0	0	14422	159	6	3	513	3	SLC17A7	19	49934675	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	36927	49934675	9194308	725	88777											
RCN3	57333	broad.mit.edu	37	chr19	50031965	50031965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggaaagccaggcccGtctggggtaagagagacatt	14	10	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50031965G>A	uc002poj.2	+	2	683	c.236G>A	c.(235-237)CGT>CAT	p.R79H		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	79	EF-hand 1.					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		AGCCAGGCCCGTCTGGGGTAA	0.602													A	50031965	G	A	50031965	3	1	161	1	0	0	0	0	1	0	0	0	13181	1145	40	1	238	1	RCN3	19	50031965	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	97290	50031965	9097018	726	88778											
PTOV1	53635	broad.mit.edu	37	chr19	50361173	50361173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaagcccaggcctgagCccaacagtcggtccaagagg	11	15	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50361173C>T	uc002pqf.1	+	8	987	c.817C>T	c.(817-819)CCC>TCC	p.P273S	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.P241S|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	273	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		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;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAGGCCTGAGCCCAACAGTCG	0.652													T	50361173	C	T	50361173	3	4	161	1	0	0	0	0	1	0	0	0	12769	739	26	2	847	2	PTOV1	19	50361173	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	329208	50361173	8767810	727	88779											
PTOV1	53635	broad.mit.edu	37	chr19	50363527	50363527	+	Frame_Shift_Del	DEL	G	G	-													tctgatttctcgccgtagatGggggggtagtggttaccccg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50363527delG	uc002pqf.1	+	12	1412	c.1242delG	c.(1240-1242)ATGfs	p.M414fs	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Frame_Shift_Del_p.W359fs|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		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;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCCGTAGATGGGGGGGTAGT	0.657													-	50363527	G	-	50363527	7	5	161	1	0	1	0	1	0	0	0	0	12769	1348	47	0	1288	0	PTOV1	19	50363527	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2354	50363527	8765456	728	88780											
NAPSA	9476	broad.mit.edu	37	chr19	50862331	50862331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaaggaaggagactgcGgggagctttgggatttccga	16	7	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50862331G>A	uc002prx.2	-	8	1025	c.972C>T	c.(970-972)CCC>CCT	p.P324P	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	324					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGGAGACTGCGGGGAGCTTTG	0.542													A	50862331	G	A	50862331	2	1	161	1	0	0	0	0	0	0	0	1	10166	1103	39	1		1	NAPSA	19	50862331	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	498804	50862331	8266652	729	88781											
ZNF614	80110	broad.mit.edu	37	chr19	52521663	52521663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccaccatcacatcccGgtacaggttcttctgagcag	8	14	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:52521663G>A	uc002pyj.2	-	3	502	c.100C>T	c.(100-102)CGG>TGG	p.R34W	ZNF614_uc002pyi.3_Missense_Mutation_p.R34W|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATCACATCCCGGTACAGGTTC	0.507													A	52521663	G	A	52521663	3	1	161	1	0	0	0	0	1	0	0	0	18036	1115	39	1	1669	1	ZNF614	19	52521663	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1659332	52521663	6607320	730	88782											
NLRP2	55655	broad.mit.edu	37	chr19	55493959	55493959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgggagccgcacctgGggcgctgatcgaggacatct	16	11	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:55493959G>T	uc002qij.2	+	6	979	c.893G>T	c.(892-894)GGG>GTG	p.G298V	NLRP2_uc010yfp.1_Missense_Mutation_p.G275V|NLRP2_uc010esn.2_Missense_Mutation_p.G274V|NLRP2_uc010eso.2_Missense_Mutation_p.G295V|NLRP2_uc010esp.2_Missense_Mutation_p.G276V	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	298	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCGCACCTGGGGCGCTGATC	0.582													T	55493959	G	T	55493959	3	4	161	1	0	0	0	0	1	0	0	0	10477	1232	43	5	911	5	NLRP2	19	55493959	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2972296	55493959	3635024	731	88783											
HSPBP1	23640	broad.mit.edu	37	chr19	55785969	55785969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggcccaccagcaggtgcAtgccagacagctggcagaag	13	14	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:55785969A>G	uc002qjx.2	-	3	685	c.575T>C	c.(574-576)ATG>ACG	p.M192T	HSPBP1_uc002qjy.2_Missense_Mutation_p.M146T|HSPBP1_uc002qkb.2_Missense_Mutation_p.M146T|HSPBP1_uc002qka.2_Missense_Mutation_p.M146T|HSPBP1_uc002qkd.2_Missense_Mutation_p.M146T|HSPBP1_uc002qkc.2_Missense_Mutation_p.M146T	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	149	ARM 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CAGCAGGTGCATGCCAGACAG	0.522													G	55785969	A	G	55785969	3	3	161	1	0	0	0	0	1	0	0	0	7426	217	8	3	662	3	HSPBP1	19	55785969	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	292010	55785969	3343014	732	88784											
ZNF579	163033	broad.mit.edu	37	chr19	56089951	56089951	+	Frame_Shift_Del	DEL	C	C	-													ccccgcactccgccccctcgCccccctccggccccttggct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:56089951delC	uc002qlh.2	-	2	1108	c.1055delG	c.(1054-1056)GGCfs	p.G352fs		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	352	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CGCCCCCTCGCCCCCCTCCGG	0.602													-	56089951	C	-	56089951	7	5	161	1	0	1	0	1	0	0	0	0	18008	739	26	0	637	0	ZNF579	19	56089951	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	303982	56089951	3039032	733	88785											
ZNF835	90485	broad.mit.edu	37	chr19	57175446	57175446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggaggaggtgggagCggttgctgaagcgcttgccg	21	7	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:57175446C>T	uc010ygo.1	-	2	1187	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H	ZNF835_uc010ygn.1_Missense_Mutation_p.R374H	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GAGGTGGGAGCGGTTGCTGAA	0.672													T	57175446	C	T	57175446	3	4	161	1	0	0	0	0	1	0	0	0	18183	768	27	1	494	1	ZNF835	19	57175446	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1085495	57175446	1953537	734	88786											
ZNF274	10782	broad.mit.edu	37	chr19	58718429	58718429	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcacgctccaaggagcagatCctggagctgctggtgctgga	15	11	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:58718429C>A	uc002qrq.1	+	7	1059	c.600C>A	c.(598-600)ATC>ATA	p.I200I	ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Silent_p.I168I|ZNF274_uc002qrs.1_Silent_p.I95I|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	200	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		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)		AGGAGCAGATCCTGGAGCTGC	0.602													A	58718429	C	A	58718429	2	1	161	1	0	0	0	0	0	0	0	1	17806	855	30	5		5	ZNF274	19	58718429	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1542983	58718429	410554	735	88787											
ZNF8	7554	broad.mit.edu	37	chr19	58806481	58806481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgatctttgagcagaCgccagctctcacaaagcatg	11	11	2	3	rs147485828		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:58806481C>T	uc002qry.1	+	4	1437	c.1307C>T	c.(1306-1308)ACG>ATG	p.T436M	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TTTGAGCAGACGCCAGCTCTC	0.587													T	58806481	C	T	58806481	3	4	161	1	0	0	0	0	1	0	0	0	18164	536	19	1	1321	1	ZNF8	19	58806481	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	88052	58806481	322502	736	88788											
DEFB127	140850	broad.mit.edu	37	chr20	139607	139608	+	Frame_Shift_Ins	INS	-	-	T													gcaacacttgcactgactctINStcaagactatgttacaataa							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:139606_139607C>CT	uc002wcy.1	+	1	241_242	c.241_242C>CT	c.(241-243)cttfs	p.L81fs		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	Homo sapiens defensin, beta 127 (DEFB127), mRNA.	81					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCACTGACTCTTCAAGACTAT	0.376													T	139608	-	T	139607	7	5	161	1	0	1	1	0	0	0	0	0	4413	1609	56	0	248	0	DEFB127	20	139607	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08		139607	62885913	737	88789											
ZNF343	79175	broad.mit.edu	37	chr20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttatgactaaagcctcGcccacactccctacaaacat	4	15	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:2463857G>A	uc002wge.1	-	6	2238	c.1750C>T	c.(1750-1752)CGA>TGA	p.R584*	ZNF343_uc010gao.1_Nonsense_Mutation_p.R584*|ZNF343_uc002wgd.1_Nonsense_Mutation_p.R494*	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	584	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTAAAGCCTCGCCCACACTCC	0.522													A	2463857	G	A	2463857	4	1	161	1	0	0	0	0	0	1	0	0	17855	1095	38	1	53	1	ZNF343	20	2463857	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2324250	2463857	60561663	738	88790											
KIF16B	55614	broad.mit.edu	37	chr20	16506751	16506751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atataccatttcttgtgaaaCgtaatctgggctttttgtat	7	6	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:16506751C>T	uc002wpg.1	-	3	375	c.217G>A	c.(217-219)GTT>ATT	p.V73I	KIF16B_uc010gch.1_Missense_Mutation_p.V73I|KIF16B_uc010gci.1_Missense_Mutation_p.V73I|KIF16B_uc010gcj.1_Missense_Mutation_p.V73I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	73	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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCTTGTGAAACGTAATCTGGG	0.343													T	16506751	C	T	16506751	3	4	161	1	0	0	0	0	1	0	0	0	8278	536	19	1	3832	1	KIF16B	20	16506751	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	14042894	16506751	46518769	739	88791											
RIN2	54453	broad.mit.edu	37	chr20	19955391	19955391	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtcctgcctccctgcGtcagctctgccttataaatg	8	14	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:19955391G>C	uc002wro.1	+	7	758	c.722G>C	c.(721-723)CGT>CCT	p.R241P	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.R35P	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	241					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GCCTCCCTGCGTCAGCTCTGC	0.557													C	19955391	G	C	19955391	3	2	161	1	0	0	0	0	1	0	0	0	13372	1145	40	5	748	5	RIN2	20	19955391	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	3448640	19955391	43070129	740	88792											
ACSS1	84532	broad.mit.edu	37	chr20	25004162	25004162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctgtcctgtgagccacCaggacatgctgcacggtggg	14	11	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:25004162C>T	uc002wub.2	-	4	1625	c.747G>A	c.(745-747)CTG>CTA	p.L249L	ACSS1_uc002wuc.2_Silent_p.L249L|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Silent_p.L166L	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	249					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGAGCCACCAGGACATGCT	0.577													T	25004162	C	T	25004162	2	4	161	1	0	0	0	0	0	0	0	1	188	581	21	4		4	ACSS1	20	25004162	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	5048771	25004162	38021358	741	88793											
NINL	22981	broad.mit.edu	37	chr20	25472073	25472073	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcgcggccctctgccTgtgggcctgctcccagaaca	11	18	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:25472073T>G	uc002wux.1	-	11	1473	c.1399A>C	c.(1399-1401)AGG>CGG	p.R467R	NINL_uc010gdn.1_Silent_p.R467R|NINL_uc010gdo.1_Silent_p.R250R|NINL_uc010ztf.1_Silent_p.R483R	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	467					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCCCTCTGCCTGTGGGCCTGC	0.682													G	25472073	T	G	25472073	2	3	161	1	0	0	0	0	0	0	0	1	10420	1579	55	5		5	NINL	20	25472073	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	467911	25472073	37553447	742	88794											
C20orf4	25980	broad.mit.edu	37	chr20	34828094	34828094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaggtagacctgtccCcagccccagagtctgaggtg	15	11	1	4			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:34828094C>A	uc002xfc.1	+	2	397	c.304C>A	c.(304-306)CCA>ACA	p.P102T	C20orf4_uc002xfd.1_Missense_Mutation_p.P102T|C20orf4_uc002xfe.1_Missense_Mutation_p.P102T	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	102											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AGACCTGTCCCCAGCCCCAGA	0.607													A	34828094	C	A	34828094	3	1	161	1	0	0	0	0	1	0	0	0	2111	623	22	5	306	5	C20orf4	20	34828094	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	9356021	34828094	28197426	743	88795											
MYL9	10398	broad.mit.edu	37	chr20	35177567	35177567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggacgagatgtaccgggAggcacccattgataagaaag	14	7	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:35177567A>G	uc002xfl.1	+	4	528	c.434A>G	c.(433-435)GAG>GGG	p.E145G	uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.E91G	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	145	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGTACCGGGAGGCACCCATT	0.582													G	35177567	A	G	35177567	3	3	161	1	0	0	0	0	1	0	0	0	10054	304	11	3	444	3	MYL9	20	35177567	Missense_Mutation	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	349473	35177567	27847953	744	88796											
DHX35	60625	broad.mit.edu	37	chr20	37634970	37634970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtggtggtcgtagtcGctcgggaaaatgttatcgcc	15	8	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:37634970G>A	uc002xjh.2	+	12	1204	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	DHX35_uc010zwa.1_Missense_Mutation_p.R243H|DHX35_uc010zwb.1_Missense_Mutation_p.R243H|DHX35_uc010zwc.1_Missense_Mutation_p.R367H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	398	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GGTCGTAGTCGCTCGGGAAAA	0.502													A	37634970	G	A	37634970	3	1	161	1	0	0	0	0	1	0	0	0	4508	1087	38	1	1239	1	DHX35	20	37634970	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2457403	37634970	25390550	745	88797											
PLCG1	5335	broad.mit.edu	37	chr20	39801247	39801247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgcccatgtggatctGtggcagtcagcttgtggccc	12	12	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:39801247G>A	uc002xjp.1	+	26	3213	c.3092G>A	c.(3091-3093)TGT>TAT	p.C1031Y	PLCG1_uc002xjo.1_Missense_Mutation_p.C1031Y|PLCG1_uc010zwe.1_Missense_Mutation_p.C657Y	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	1031	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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				ATGTGGATCTGTGGCAGTCAG	0.577													A	39801247	G	A	39801247	3	1	161	1	0	0	0	0	1	0	0	0	12035	1377	48	4	3194	4	PLCG1	20	39801247	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2166277	39801247	23224273	746	88798											
PTPRT	11122	broad.mit.edu	37	chr20	41306553	41306553	+	Frame_Shift_Del	DEL	C	C	-													gaggccctggcggtcccgtaCccccctcacctggtcgtgtg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:41306552_41306552AC>A	uc002xkg.3	-	6	1291	c.1107_1107GT>T	c.(1105-1107)ggtfs	p.G369fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.G369fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	369	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCGGTCCCGTACCCCCCTCAC	0.547													-	41306553	C	-	41306553	7	5	161	1	0	1	0	1	0	0	0	0	12812	507	18	0	3380	0	PTPRT	20	41306553	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1505306	41306553	21718967	747	88799											
SPATA2	9825	broad.mit.edu	37	chr20	48522803	48522803	+	Frame_Shift_Del	DEL	G	G	-													aagcacatccgggctgccgtGgggggagctggccatggtca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:48522803delG	uc010gie.2	-	3	1266	c.916delC	c.(916-918)CACfs	p.H306fs	SPATA2_uc002xuw.2_Frame_Shift_Del_p.H306fs|SPATA2_uc010zyn.1_Frame_Shift_Del_p.H169fs	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	306					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGGCTGCCGTGGGGGGAGCTG	0.647													-	48522803	G	-	48522803	7	5	161	1	0	1	0	1	0	0	0	0	15004	1348	47	0	650	0	SPATA2	20	48522803	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7216250	48522803	14502717	748	88800											
ZFP64	55734	broad.mit.edu	37	chr20	50701599	50701599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccaggaggtcagcccGgtcccggccctggaaggcac	15	15	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:50701599G>A	uc002xwk.2	-	9	1784	c.1435C>T	c.(1435-1437)CGG>TGG	p.R479W	ZFP64_uc002xwj.2_Missense_Mutation_p.R260W	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGTCAGCCCGGTCCCGGCCC	0.642													A	50701599	G	A	50701599	3	1	161	1	0	0	0	0	1	0	0	0	17649	1115	39	1	506	1	ZFP64	20	50701599	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2178796	50701599	12323921	749	88801											
TSHZ2	128553	broad.mit.edu	37	chr20	51871592	51871592	+	Frame_Shift_Del	DEL	A	A	-													cacagccatcaacaaagcccAaaacggggcccccagctgga							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:51871591_51871591CA>C	uc002xwo.3	+	1	2481	c.1594_1594CA>C	c.(1594-1596)caafs	p.Q532fs	TSHZ2_uc021wex.1_Frame_Shift_Del_p.Q529fs	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	532					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)			CAACAAAGCCCAAAACGGGGC	0.542													-	51871592	A	-	51871592	7	5	161	1	0	1	0	1	0	0	0	0	16621	130	5	0	1601	0	TSHZ2	20	51871592	Frame_Shift_Del	DEL	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1169993	51871592	11153928	750	88802											
CTCFL	140690	broad.mit.edu	37	chr20	56098123	56098123	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgagatgaactggcctaCcctttgtctttctttgattt	7	9	2	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:56098123C>T	uc010gix.1	-	2	1416	c.754_splice	c.e2+1	p.G252_splice	CTCFL_uc010giw.1_Splice_Site_p.G252_splice|CTCFL_uc002xym.2_Splice_Site_p.G252_splice|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Splice_Site_p.G252_splice|CTCFL_uc010gjb.1_Splice_Site_p.G252_splice|CTCFL_uc010gjc.1_Splice_Site_p.G252_splice|CTCFL_uc010gjd.1_Splice_Site_p.G252_splice|CTCFL_uc010gje.2_Splice_Site_p.G252_splice|CTCFL_uc010gjf.2_Splice_Site_p.G47_splice|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Splice_Site_p.G252_splice|CTCFL_uc010gji.1_Splice_Site_p.G47_splice|CTCFL_uc010gjj.1_Splice_Site_p.G252_splice|CTCFL_uc010gjk.1_Splice_Site_p.G252_splice|CTCFL_uc010gjl.1_Splice_Site_p.G252_splice	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein						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			ovary(2)|large_intestine(1)|skin(1)	4	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)			AACTGGCCTACCCTTTGTCTT	0.388													T	56098123	C	T	56098123	5	4	161	1	0	0	0	0	0	0	1	0	4001	521	18	4	1272	4	CTCFL	20	56098123	Splice_Site	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4226531	56098123	6927397	751	88803											
GNAS	2778	broad.mit.edu	37	chr20	57480479	57480479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtgggaggatgaaggAgtgcgtgcctgctacgaacg	17	8	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:57480479A>G	uc002xzw.2	+	6	2688	c.2403A>G	c.(2401-2403)GGA>GGG	p.G801G	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.G99G|GNAS_uc002xzx.2_Silent_p.G99G|GNAS_uc010gjr.2_Silent_p.G49G|GNAS_uc002xzy.2_Silent_p.G84G|GNAS_uc002yaa.2_Silent_p.G144G|GNAS_uc010zzt.1_Silent_p.G159G|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.G49G|GNAS_uc002yae.2_Silent_p.G83G	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	158					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGATGAAGGAGTGCGTGCCT	0.473			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			G	57480479	A	G	57480479	2	3	161	1	0	0	0	0	0	0	0	1	6510	291	11	3		3	GNAS	20	57480479	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	1382356	57480479	5545041	752	88804											
ZNF831	128611	broad.mit.edu	37	chr20	57829477	57829477	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcatcttgaaataccagcTtcaggaccaagttcagctag	7	11	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:57829477T>G	uc002yan.2	+	5	4713	c.4713T>G	c.(4711-4713)GCT>GCG	p.A1571A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1571						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					AAATACCAGCTTCAGGACCAA	0.483													G	57829477	T	G	57829477	2	3	161	1	0	0	0	0	0	0	0	1	18182	1596	56	5		5	ZNF831	20	57829477	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	348998	57829477	5196043	753	88805											
NTSR1	4923	broad.mit.edu	37	chr20	61386229	61386229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctgcggcacggcgtgCgcgtcctacgtacgtaacct	13	15	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:61386229C>T	uc002ydf.2	+	2	1278	c.907C>T	c.(907-909)CGC>TGC	p.R303C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	303	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGGCGTGCGCGTCCTACG	0.697													T	61386229	C	T	61386229	3	4	161	1	0	0	0	0	1	0	0	0	10710	768	27	1	913	1	NTSR1	20	61386229	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	3556752	61386229	1639291	754	88806											
GMEB2	26205	broad.mit.edu	37	chr20	62234425	62234425	+	Frame_Shift_Del	DEL	C	C	-													aatctcagcttccaggttctCcccctcttcagccatcttca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:62234424_62234424TC>T	uc002yfp.1	-	2	730	c.251_251GA>A	c.(250-252)gagfs	p.E84fs	GMEB2_uc002yfo.1_Frame_Shift_Del_p.E6fs|GMEB2_uc002yfq.1_Frame_Shift_Del_p.E84fs	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	84	SAND.				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)			TTCCAGGTTCTCCCCCTCTTC	0.483													-	62234425	C	-	62234425	7	5	161	1	0	1	0	1	0	0	0	0	6488	864	30	0	1370	0	GMEB2	20	62234425	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08	848196	62234425	791095	755	88807											
RTEL1	51750	broad.mit.edu	37	chr20	62319690	62319692	+	In_Frame_Del	DEL	TCT	TCT	-													ggtgccctatgggctcctgaTcttcttcccttcctatcctg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:62319689_62319691ATCT>A	uc021wge.1	+	18	1842_1844	c.1672_1674ATCT>A	c.(1672-1674)atc>A	p.I558del	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_In_Frame_Del_p.I558del|RTEL1_uc011abd.2_In_Frame_Del_p.I582del|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_In_Frame_Del_p.I335del|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	558					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)			TGGGCTCCTGATCTTCTTCCCTT	0.635													-	62319692	TCT	-	62319690	7	5	161	1	0	1	0	1	0	0	0	0	13720	1435	50	0	1747	0	RTEL1	20	62319690	In_Frame_Del	DEL	TCT	TCGA-CD-A4MJ-01A-11D-A25D-08	85265	62319690	705830	756	88808											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212301	28212301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtcacattccctcatcGtgtactggactcctccaccg	8	15	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:28212301G>A	uc002ymf.2	-	6	2200	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	582	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTCCCTCATCGTGTACTGGAC	0.517													A	28212301	G	A	28212301	3	1	161	1	0	0	0	0	1	0	0	0	255	1145	40	1	1174	1	ADAMTS1	21	28212301	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		28212301	19917594	757	88809											
TIAM1	7074	broad.mit.edu	37	chr21	32508291	32508291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttccacttgcccagCgaggccggcgggttcagcca	11	15	1	0	rs143123730		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:32508291C>T	uc002yow.1	-	24	4315	c.3843G>A	c.(3841-3843)TCG>TCA	p.S1281S	TIAM1_uc011adk.1_Silent_p.S1281S|TIAM1_uc011adl.1_Silent_p.S1221S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1281	PH 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	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACTTGCCCAGCGAGGCCGGCG	0.502													T	32508291	C	T	32508291	2	4	161	1	0	0	0	0	0	0	0	1	15887	755	27	1		1	TIAM1	21	32508291	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4295990	32508291	15621604	758	88810											
TIAM1	7074	broad.mit.edu	37	chr21	32582408	32582408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgtcgcctggccggaCgaccgtcagggcaggctgat	16	12	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:32582408C>T	uc002yow.1	-	12	2813	c.2341G>A	c.(2341-2343)GTC>ATC	p.V781I	TIAM1_uc011adk.1_Missense_Mutation_p.V781I|TIAM1_uc011adl.1_Missense_Mutation_p.V756I	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	781	RBD.				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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCTGGCCGGACGACCGTCAGG	0.547													T	32582408	C	T	32582408	3	4	161	1	0	0	0	0	1	0	0	0	15887	536	19	1	2506	1	TIAM1	21	32582408	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	74117	32582408	15547487	759	88811											
C21orf59	56683	broad.mit.edu	37	chr21	33949091	33949092	+	Frame_Shift_Ins	INS	-	-	C													acctttccatcttcagacacINSccccccgtctctctgcacag							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:33949090_33949091A>AC	uc002ypw.4	-	4	757_758	c.641_642T>GT	c.(640-642)ggtfs	p.G214fs		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ATCTTCAGACACCCCCCCGTCT	0.48													C	33949092	-	C	33949091	7	5	161	1	0	1	1	0	0	0	0	0	2130	507	18	0		0	C21orf59	21	33949091	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1366683	33949091	14180804	760	88812											
C21orf59	56683	broad.mit.edu	37	chr21	33982263	33982263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatctgatcatcggtcagTccttgcatattaggagggag	11	8	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:33982263T>C	uc002yqc.2	-	2	305	c.192A>G	c.(190-192)GGA>GGG	p.G64G	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypy.1_Silent_p.G64G|C21orf59_uc002ypz.1_Silent_p.G64G|C21orf59_uc010glx.2_5'UTR|C21orf59_uc002yqd.2_Silent_p.G64G|C21orf59_uc002yqb.3_Silent_p.G64G|C21orf59_uc011adr.1_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	64						cytosol|nucleus					0						CATCGGTCAGTCCTTGCATAT	0.378													C	33982263	T	C	33982263	2	2	161	1	0	0	0	0	0	0	0	1	2130	1654	58	3		3	C21orf59	21	33982263	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	33172	33982263	14147632	761	88813											
SON	6651	broad.mit.edu	37	chr21	34925015	34925015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccccaacaatgccaccgTtgccacctgaggagccacca	8	18	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:34925015T>C	uc002yse.1	+	3	3527	c.3478T>C	c.(3478-3480)TTG>CTG	p.L1160L	SON_uc002ysb.1_Silent_p.L1160L|SON_uc002ysc.2_Silent_p.L1160L|SON_uc002ysd.2_Silent_p.L151L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Silent_p.L151L	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1160	3 X 11 AA tandem repats of P-P-L-P-P-E-E- P-P-[TME]-[MTG].				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			ovary(4)|skin(2)	6						AATGCCACCGTTGCCACCTGA	0.517													C	34925015	T	C	34925015	2	2	161	1	0	0	0	0	0	0	0	1	14926	1722	60	3		3	SON	21	34925015	Silent	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	942752	34925015	13204880	762	88814											
CRYZL1	9946	broad.mit.edu	37	chr21	34974629	34974629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctatgatgtgctaacTgaatagctattgtaccaaat	6	9	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:34974629T>C	uc011adw.1	-	8	668	c.488A>G	c.(487-489)CAG>CGG	p.Q163R	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.Q187R|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	163					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						ATGTGCTAACTGAATAGCTAT	0.373													C	34974629	T	C	34974629	3	2	161	1	0	0	0	0	1	0	0	0	3923	1580	55	3	585	3	CRYZL1	21	34974629	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	49614	34974629	13155266	763	88815											
SUMO3	6612	broad.mit.edu	37	chr21	46226874	46226875	+	Frame_Shift_Del	DEL	TG	TG	-													gggacgggccctctagaaacTgtgccctgccaggctgctct							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:46226873_46226874CTG>C	uc002zfz.1	-	3	465_466	c.304_305CAG>G	c.(304-306)agtfs	p.S102fs	SUMO3_uc011afi.1_Frame_Shift_Del_p.S140fs	NM_006936	NP_008867	P55854	SUMO3_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) (SUMO3), mRNA.	102					protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		CCTCTAGAAACTGTGCCCTGCC	0.609													-	46226875	TG	-	46226874	7	5	161	1	0	1	0	1	0	0	0	0	15386	1580	55	0	11	0	SUMO3	21	46226874	Frame_Shift_Del	DEL	TG	TCGA-CD-A4MJ-01A-11D-A25D-08	11252245	46226874	1903021	764	88816											
DIP2A	23181	broad.mit.edu	37	chr21	47985656	47985656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccccacaatgccaccGggtactacaccgtttacggg	10	16	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:47985656G>A	uc002zjo.2	+	36	4378	c.4195G>A	c.(4195-4197)GGG>AGG	p.G1399R	DIP2A_uc011afz.1_Missense_Mutation_p.G1395R|DIP2A_uc002zjs.2_Missense_Mutation_p.G79R|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1399					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		CAATGCCACCGGGTACTACAC	0.567													A	47985656	G	A	47985656	3	1	161	1	0	0	0	0	1	0	0	0	4527	1116	39	1	4450	1	DIP2A	21	47985656	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1758782	47985656	144239	765	88817											
DGCR8	54487	broad.mit.edu	37	chr22	20073931	20073931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgacgtgcgggcggagtgcGgtctgctccttagccctgtc	16	13	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:20073931G>T	uc002zri.2	+	2	795	c.445G>T	c.(445-447)GGT>TGT	p.G149C	DGCR8_uc010grz.2_Missense_Mutation_p.G149C|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	149	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGCGGAGTGCGGTCTGCTCCT	0.572													T	20073931	G	T	20073931	3	4	161	1	0	0	0	0	1	0	0	0	4464	1116	39	5	447	5	DGCR8	22	20073931	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08		20073931	31230635	766	88818											
MYO18B	84700	broad.mit.edu	37	chr22	26351273	26351273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggaagagctgaaggcCgacatggaagagctggtgca	16	9	0	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:26351273C>T	uc003abz.1	+	39	6349	c.6099C>T	c.(6097-6099)GCC>GCT	p.A2033A	MYO18B_uc003aca.1_Silent_p.A1914A|MYO18B_uc010guy.1_Silent_p.A1915A|MYO18B_uc010guz.1_Silent_p.A1913A|MYO18B_uc011aka.1_Silent_p.A1187A|MYO18B_uc011akb.1_Silent_p.A1546A|MYO18B_uc010gva.1_Silent_p.A31A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2033	Tail.|Potential.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						AGCTGAAGGCCGACATGGAAG	0.637													T	26351273	C	T	26351273	2	4	161	1	0	0	0	0	0	0	0	1	10066	639	23	1		1	MYO18B	22	26351273	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6277342	26351273	24953293	767	88819											
SEC14L2	23541	broad.mit.edu	37	chr22	30802355	30802355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcttcgacctgcagaagtCggaggccatgctccggaagg	14	11	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:30802355C>T	uc003ahr.2	+	3	328	c.155C>T	c.(154-156)TCG>TTG	p.S52L	SEC14L2_uc003ahq.2_Missense_Mutation_p.S52L|SEC14L2_uc011akx.1_5'UTR|SEC14L2_uc003ahs.2_5'UTR|SEC14L2_uc011aky.1_Missense_Mutation_p.S52L|SEC14L2_uc003aht.2_5'Flank|SEC14L2_uc003ahu.3_5'Flank|SEC14L2_uc010gvv.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTP18_uc010gvx.1_5'Flank|MTP18_uc003ahv.1_5'Flank	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	52					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	CTGCAGAAGTCGGAGGCCATG	0.532													T	30802355	C	T	30802355	3	4	161	1	0	0	0	0	1	0	0	0	13982	893	31	1	165	1	SEC14L2	22	30802355	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	4451082	30802355	20502211	768	88820											
CYTH4	27128	broad.mit.edu	37	chr22	37705361	37705361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagggttggctgctcaagCtaggtgagagaccgacagac	17	8	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:37705361C>A	uc003arf.2	+	9	921	c.805C>A	c.(805-807)CTA>ATA	p.L269I	CYTH4_uc003are.2_3'UTR|CYTH4_uc011amw.1_Missense_Mutation_p.L212I|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	269	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GCTGCTCAAGCTAGGTGAGAG	0.592													A	37705361	C	A	37705361	3	1	161	1	0	0	0	0	1	0	0	0	4206	796	28	5	839	5	CYTH4	22	37705361	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	6903006	37705361	13599205	769	88821											
GTPBP1	9567	broad.mit.edu	37	chr22	39124048	39124048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggacaaggactgtctgcGcactggggacaaggccactg	14	11	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:39124048G>A	uc003awg.2	+	10	1752	c.1598G>A	c.(1597-1599)CGC>CAC	p.R533H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	533					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					GACTGTCTGCGCACTGGGGAC	0.592													A	39124048	G	A	39124048	3	1	161	1	0	0	0	0	1	0	0	0	6878	1087	38	1	1636	1	GTPBP1	22	39124048	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1418687	39124048	12180518	770	88822											
TNRC6B	23112	broad.mit.edu	37	chr22	40662751	40662751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccagaggcttctggttcGtggggaggcccacccccacc	12	16	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:40662751G>A	uc011aor.1	+	5	2728	c.2517G>A	c.(2515-2517)TCG>TCA	p.S839S	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Silent_p.S839S|TNRC6B_uc003ayo.2_Silent_p.S643S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	839	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CTTCTGGTTCGTGGGGAGGCC	0.617													A	40662751	G	A	40662751	2	1	161	1	0	0	0	0	0	0	0	1	16338	1132	40	1		1	TNRC6B	22	40662751	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	1538703	40662751	10641815	771	88823											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753257	41753257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagctcaacgagtggCtggaccggcgcgaggtgctg	19	9	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:41753257C>T	uc003azw.2	+	23	2974	c.2758C>T	c.(2758-2760)CTG>TTG	p.L920L	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	936	Potential.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CAACGAGTGGCTGGACCGGCG	0.622													T	41753257	C	T	41753257	2	4	161	1	0	0	0	0	0	0	0	1	17570	796	28	2		2	ZC3H7B	22	41753257	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1090506	41753257	9551309	772	88824											
ACO2	50	broad.mit.edu	37	chr22	41903881	41903881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaattgagcgaggcaagtCgtacctgcggctgcggccgg	17	10	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:41903881C>T	uc003bac.2	+	3	282	c.260C>T	c.(259-261)TCG>TTG	p.S87L	ACO2_uc003bad.2_Missense_Mutation_p.S87L	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	87					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(2)|ovary(1)|lung(1)	4						CGAGGCAAGTCGTACCTGCGG	0.622													T	41903881	C	T	41903881	3	4	161	1	0	0	0	0	1	0	0	0	147	893	31	1	270	1	ACO2	22	41903881	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	150624	41903881	9400685	773	88825											
MEI1	150365	broad.mit.edu	37	chr22	42126614	42126614	+	Frame_Shift_Del	DEL	T	T	-													tcctggtagaagagccactcTttttttccaagtgccacacg							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:42126613_42126613CT>C	uc003baz.1	+	8	1093	c.1068_1068CT>C	c.(1066-1068)ctcfs	p.L356fs	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Frame_Shift_Del_p.L356fs|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	356							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						AAGAGCCACTCTTTTTTTCCA	0.507													-	42126614	T	-	42126614	7	5	161	1	0	1	0	1	0	0	0	0	9465	1609	56	0	1103	0	MEI1	22	42126614	Frame_Shift_Del	DEL	T	TCGA-CD-A4MJ-01A-11D-A25D-08	222733	42126614	9177952	774	88826											
NFAM1	150372	broad.mit.edu	37	chr22	42807623	42807623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatcttcatgaaagtagcTgactgtgaaaaccttgaatt	9	6	2	5			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:42807623T>C	uc003bcn.3	-	2	279	c.241A>G	c.(241-243)AGC>GGC	p.S81G		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	81	Extracellular (Potential).|Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity				0						TGAAAGTAGCTGACTGTGAAA	0.552													C	42807623	T	C	42807623	3	2	161	1	0	0	0	0	1	0	0	0	10358	1580	55	3	591	3	NFAM1	22	42807623	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	681009	42807623	8496943	775	88827											
PHF21B	112885	broad.mit.edu	37	chr22	45312220	45312220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcactgaccacagacacGgcggtgctgggggccatggc	15	13	1	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:45312220G>A	uc003bfn.2	-	4	655	c.504C>T	c.(502-504)GCC>GCT	p.A168A	PHF21B_uc003bfm.2_Silent_p.A6A|PHF21B_uc011aqk.1_Silent_p.A156A|PHF21B_uc011aql.1_Silent_p.A168A|PHF21B_uc011aqm.1_Silent_p.A156A	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	168							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCACAGACACGGCGGTGCTGG	0.672													A	45312220	G	A	45312220	2	1	161	1	0	0	0	0	0	0	0	1	11834	1103	39	1		1	PHF21B	22	45312220	Silent	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	2504597	45312220	5992346	776	88828											
TBC1D22A	25771	broad.mit.edu	37	chr22	47433069	47433069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgcccctgcgttgtaCcatccgcctgtgggacacct	13	14	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:47433069C>T	uc003bib.2	+	11	1439	c.1304C>T	c.(1303-1305)ACC>ATC	p.T435I	TBC1D22A_uc010haf.2_Missense_Mutation_p.T405I|TBC1D22A_uc003bic.2_Missense_Mutation_p.T376I|TBC1D22A_uc003bie.2_Missense_Mutation_p.T357I|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T388I	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	435	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		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)		CTGCGTTGTACCATCCGCCTG	0.632													T	47433069	C	T	47433069	3	4	161	1	0	0	0	0	1	0	0	0	15608	507	18	4	1346	4	TBC1D22A	22	47433069	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2120849	47433069	3871497	777	88829											
ZBED4	9889	broad.mit.edu	37	chr22	50280399	50280399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacaaacaggatttaaTcagggaactcgaactcatga	9	8	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:50280399T>C	uc003bix.2	+	2	3559	c.3089T>C	c.(3088-3090)ATC>ACC	p.I1030T		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1030						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		CAGGATTTAATCAGGGAACTC	0.582													C	50280399	T	C	50280399	3	2	161	1	0	0	0	0	1	0	0	0	17517	1435	50	3	3091	3	ZBED4	22	50280399	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	2847330	50280399	1024167	778	88830											
SHOX	6473	broad.mit.edu	37	chrX	595491	595491	+	Frame_Shift_Del	DEL	C	C	-													cgagcgactcttcgacgagaCccattaccccgacgccttca							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:595491delC	uc004cph.1	+	3	1107	c.416delC	c.(415-417)ACCfs	p.T139fs	SHOX_uc004cpi.2_Frame_Shift_Del_p.T139fs	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	139	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)				TTCGACGAGACCCATTACCCC	0.577													-	595491	C	-	595491	7	5	161	1	0	1	0	1	0	0	0	0	14288	507	18	0	422	0	SHOX	23	595491	Frame_Shift_Del	DEL	C	TCGA-CD-A4MJ-01A-11D-A25D-08		595491	154675069	779	88831											
HDHD1A	8226	broad.mit.edu	37	chrX	6968351	6968351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctcactcataggaggGcaaaccaaacagctcgggct	9	14	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:6968351G>A	uc004crv.2	-	4	750	c.673C>T	c.(673-675)CCC>TCC	p.P225S	HDHD1A_uc011mhm.1_Missense_Mutation_p.P248S|HDHD1A_uc011mhn.1_Missense_Mutation_p.P182S|HDHD1A_uc010ndl.2_3'UTR	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain	225					nucleotide metabolic process		metal ion binding|phosphatase activity				0		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)				TCATAGGAGGGCAAACCAAAC	0.567													A	6968351	G	A	6968351	3	1	161	1	0	0	0	0	1	0	0	0	7022	1203	42	2	17	2	HDHD1A	23	6968351	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	6372860	6968351	148302209	780	88832											
KAL1	3730	broad.mit.edu	37	chrX	8522053	8522053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgatagaagggagctcCgacttccagcgggcgagtgg	15	10	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:8522053C>T	uc004csf.2	-	9	1444	c.1294G>A	c.(1294-1296)GGA>AGA	p.G432R		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	432	Fibronectin type-III 3.				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			ovary(3)|pancreas(1)	4						AAGGGAGCTCCGACTTCCAGC	0.413													T	8522053	C	T	8522053	3	4	161	1	0	0	0	0	1	0	0	0	7974	661	23	1	772	1	KAL1	23	8522053	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	1553702	8522053	146748507	781	88833											
PDHA1	5160	broad.mit.edu	37	chrX	19375832	19375832	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtatgagtgaccctggAgtcaggtacgctcatgggca	13	10	2	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:19375832A>C	uc004czg.3	+	9	1039	c.894A>C	c.(892-894)GGA>GGC	p.G298G	PDHA1_uc004czh.3_Silent_p.G333G|PDHA1_uc011mjc.1_Silent_p.G302G|PDHA1_uc011mjd.1_Silent_p.G264G|PDHA1_uc010nfk.2_Intron|PDHA1_uc010nfl.2_Silent_p.G89G	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	298					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)	GTGACCCTGGAGTCAGGTACG	0.493													C	19375832	A	C	19375832	2	2	161	1	0	0	0	0	0	0	0	1	11664	291	11	5		5	PDHA1	23	19375832	Silent	SNP	A	TCGA-CD-A4MJ-01A-11D-A25D-08	10853779	19375832	135894728	782	88834											
MBTPS2	51360	broad.mit.edu	37	chrX	21887618	21887618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttaccctcttcccaaggaCtctcctgccattggacccag	6	16	2	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:21887618C>A	uc004dae.2	+	7	989	c.792C>A	c.(790-792)GAC>GAA	p.D264E	MBTPS2_uc010nfr.2_5'UTR|MBTPS2_uc004dab.2_Missense_Mutation_p.D264E	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	264	Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1						TTCCCAAGGACTCTCCTGCCA	0.393													A	21887618	C	A	21887618	3	1	161	1	0	0	0	0	1	0	0	0	9362	564	20	5	818	5	MBTPS2	23	21887618	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2511786	21887618	133382942	783	88835											
GPR82	27197	broad.mit.edu	37	chrX	41586414	41586415	+	Frame_Shift_Ins	INS	-	-	A													tatttttaacaaaaataggtINSaaaaaaacatcaacgcacat							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:41586414_41586415insA	uc004dfs.1	+	3	375_376	c.135_136insA	c.(133-138)GGTAAAfs	p.G45fs	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Frame_Shift_Ins_p.G45fs|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	45_46	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CAAAAATAGGTAAAAAAACATC	0.371													A	41586415	-	A	41586414	7	5	161	1	0	1	1	0	0	0	0	0	6712	1625	57	0	137	0	GPR82	23	41586414	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	19698796	41586414	113684146	784	88836	437	2									
GPR82	27197	broad.mit.edu	37	chrX	41586415	41586416	+	Frame_Shift_Ins	INS	-	-	A													atttttaacaaaaataggtaINSaaaaaacatcaacgcacatc							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:41586414_41586415T>TA	uc022bvd.1	+	0	135_136	c.135_136T>TA	c.(133-138)ggtaaafs	p.G45fs	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Frame_Shift_Ins_p.G45fs	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CAAAAATAGGTAAAAAAACATC	0.371													A	41586416	-	A	41586415	7	5	161	1	0	1	1	0	0	0	0	0	6712	363	13	0	138	0	GPR82	23	41586415	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	1	41586415	113684145	785	88837	437	2									
SHROOM4	57477	broad.mit.edu	37	chrX	50377350	50377350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttggatcgagcggccccGggtccctccacttcgcctac	11	16	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:50377350G>A	uc004dpe.2	-	4	1749	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R459W	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	575					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GAGCGGCCCCGGGTCCCTCCA	0.577													A	50377350	G	A	50377350	3	1	161	1	0	0	0	0	1	0	0	0	14296	1115	39	1	2782	1	SHROOM4	23	50377350	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	8790935	50377350	104893210	786	88838											
AR	367	broad.mit.edu	37	chrX	66941796	66941796	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaagcactgctactcTtcagcattagtaagtgccta	8	10	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:66941796T>G	uc004dwu.1	+	6	3555	c.2440T>G	c.(2440-2442)TTC>GTC	p.F814V	AR_uc004dwv.1_Missense_Mutation_p.F282V	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	813	Ligand-binding.|Interaction with MYST2.				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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	ACTGCTACTCTTCAGCATTAG	0.488									Androgen_Insensitivity_Syndrome				G	66941796	T	G	66941796	3	3	161	1	0	0	0	0	1	0	0	0	836	1609	56	5	2486	5	AR	23	66941796	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	16564446	66941796	88328764	787	88839											
OTUD6A	139562	broad.mit.edu	37	chrX	69283211	69283211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccgctcgaggccggcgcCgccgggggcgtgctcccgcg	17	18	0	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:69283211C>T	uc004dxu.1	+	1	871	c.837C>T	c.(835-837)GCC>GCT	p.A279A		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	279										lung(1)|skin(1)	2						AGGCCGGCGCCGCCGGGGGCG	0.652													T	69283211	C	T	69283211	2	4	161	1	0	0	0	0	0	0	0	1	11316	639	23	1		1	OTUD6A	23	69283211	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	2341415	69283211	85987349	788	88840											
DLG3	1741	broad.mit.edu	37	chrX	69669655	69669655	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgattggtggtgcggaggCgacagcctccacccgagacc	15	13	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:69669655C>T	uc004dyi.1	+	4	977	c.649C>T	c.(649-651)CGA>TGA	p.R217*	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	217	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					GGTGCGGAGGCGACAGCCTCC	0.662													T	69669655	C	T	69669655	4	4	161	1	0	0	0	0	0	1	0	0	4556	760	27	1	663	1	DLG3	23	69669655	Nonsense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	386444	69669655	85600905	789	88841											
FOXO4	4303	broad.mit.edu	37	chrX	70320703	70320703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagctgctccggggccGcagtaaagcccccaagaaga	12	14	0	2			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:70320703G>A	uc004dys.1	+	2	976	c.623G>A	c.(622-624)CGC>CAC	p.R208H	FOXO4_uc010nkz.2_Missense_Mutation_p.R208H|FOXO4_uc004dyt.1_Missense_Mutation_p.R153H	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	208					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CTCCGGGGCCGCAGTAAAGCC	0.542											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70320703	G	A	70320703	3	1	161	1	0	0	0	0	1	0	0	0	6025	1087	38	1	629	1	FOXO4	23	70320703	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	651048	70320703	84949857	790	88842											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913206	77913206	+	Frame_Shift_Del	DEL	G	G	-													gaaggttaaagtgtattgcaGggggaaatctgtagcctcta							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:77913206delG	uc004edc.1	-	2	1008	c.712delC	c.(712-714)CTGfs	p.L238fs		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	238							nucleic acid binding|zinc ion binding			ovary(1)	1						GTGTATTGCAGGGGGAAATCT	0.507													-	77913206	G	-	77913206	7	5	161	1	0	1	0	1	0	0	0	0	17588	991	35	0	719	0	ZCCHC5	23	77913206	Frame_Shift_Del	DEL	G	TCGA-CD-A4MJ-01A-11D-A25D-08	7592503	77913206	77357354	791	88843											
FAM133A	286499	broad.mit.edu	37	chrX	92964587	92964587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaaaacaggttcaaaaGcattagctgaatttgaagaa	7	4	1	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:92964587G>A	uc004efr.1	+	4	482	c.169G>A	c.(169-171)GCA>ACA	p.A57T		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	57	Lys-rich.										0						AGGTTCAAAAGCATTAGCTGA	0.323													A	92964587	G	A	92964587	3	1	161	1	0	0	0	0	1	0	0	0	5443	971	34	2	171	2	FAM133A	23	92964587	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	15051381	92964587	62305973	792	88844											
TAF7L	54457	broad.mit.edu	37	chrX	100530217	100530218	+	Frame_Shift_Ins	INS	-	-	T													catacttcttaccttctcatINSttttttgtttttcctgtaac							TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:100530216_100530217A>AT	uc004ehb.3	-	11	1363_1364	c.1337_1338T>AT	c.(1336-1338)aatfs	p.N446fs	TAF7L_uc004eha.3_Frame_Shift_Ins_p.N286fs|TAF7L_uc004ehc.2_Frame_Shift_Ins_p.N360fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	446					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTACCTTCTCATTTTTTTGTTT	0.337													T	100530218	-	T	100530217	7	5	161	1	0	1	1	0	0	0	0	0	15530	1493	52	0	59	0	TAF7L	23	100530217	Frame_Shift_Ins	INS	-	TCGA-CD-A4MJ-01A-11D-A25D-08	7565630	100530217	54740343	793	88845											
CXorf56	63932	broad.mit.edu	37	chrX	118679451	118679451	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttcttcctgtactgtcGttcaatgccttcaggtctgc	7	12	4	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:118679451G>A	uc004erk.1	-	3	305	c.259C>T	c.(259-261)CGA>TGA	p.R87*	CXorf56_uc004erj.1_Nonsense_Mutation_p.R38*|CXorf56_uc011mtu.1_Intron	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	87							protein binding				0						CTGTACTGTCGTTCAATGCCT	0.353													A	118679451	G	A	118679451	4	1	161	1	0	0	0	0	0	1	0	0	4112	1153	40	1	429	1	CXorf56	23	118679451	Nonsense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	18149234	118679451	36591109	794	88846											
MAP7D3	79649	broad.mit.edu	37	chrX	135318405	135318405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttagaagtaactaaccaCgtggcttcctttcggcttgt	8	9	0	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:135318405C>T	uc004ezt.2	-	7	825	c.734G>A	c.(733-735)CGT>CAT	p.R245H	MAP7D3_uc004ezs.2_Missense_Mutation_p.R209H|MAP7D3_uc011mwc.1_Missense_Mutation_p.R227H|MAP7D3_uc010nsa.1_Missense_Mutation_p.R244H	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	245						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TAACTAACCACGTGGCTTCCT	0.333													T	135318405	C	T	135318405	3	4	161	1	0	0	0	0	1	0	0	0	9269	536	19	1	1944	1	MAP7D3	23	135318405	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	16638954	135318405	19952155	795	88847											
MAGEC3	139081	broad.mit.edu	37	chrX	140983061	140983061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgctgtcagccctggTcagccttggcagggttcgcg	14	14	3	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:140983061T>A	uc011mwp.1	+	5	916	c.916T>A	c.(916-918)TCA>ACA	p.S306T	MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	306	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCCTGGTCAGCCTTGGC	0.463													A	140983061	T	A	140983061	3	1	161	1	0	0	0	0	1	0	0	0	9182	1667	58	5	934	5	MAGEC3	23	140983061	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	5664656	140983061	14287499	796	88848											
FAM58A	92002	broad.mit.edu	37	chrX	152860068	152860068	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcatgagaagctcacactgCacgatgctgtcccggagttc	11	12	1	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:152860068C>G	uc010nug.2	-	2	283	c.180G>C	c.(178-180)GTG>GTC	p.V60V				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	122					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACACTGCACGATGCTGT	0.557													G	152860068	C	G	152860068	2	3	161	1	0	0	0	0	0	0	0	1	5590	697	25	5		5	FAM58A	23	152860068	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	11877007	152860068	2410492	797	88849											
PDZD4	57595	broad.mit.edu	37	chrX	153071526	153071526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctgcaagtgctcacCtggatgatgcggtctccctc	11	14	2	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:153071526C>A	uc004fiz.1	-	5	799	c.549G>T	c.(547-549)CAG>CAT	p.Q183H	PDZD4_uc004fiy.1_Missense_Mutation_p.Q108H|PDZD4_uc004fix.2_Missense_Mutation_p.Q87H|PDZD4_uc004fja.1_Missense_Mutation_p.Q189H|PDZD4_uc011mze.1_Missense_Mutation_p.Q74H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	183	PDZ.					cell cortex				breast(1)	1	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)					AAGTGCTCACCTGGATGATGC	0.617													A	153071526	C	A	153071526	3	1	161	1	0	0	0	0	1	0	0	0	11703	695	24	5	1776	5	PDZD4	23	153071526	Missense_Mutation	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08	211458	153071526	2199034	798	88850											
L1CAM	3897	broad.mit.edu	37	chrX	153129872	153129872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgcaggtcccactgcGtgtaggagctctggttgtag	15	10	1	0			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:153129872G>A	uc004fjb.2	-	24	3335	c.3227C>T	c.(3226-3228)ACG>ATG	p.T1076M	L1CAM_uc004fjc.2_Missense_Mutation_p.T1076M|L1CAM_uc010nuo.2_Missense_Mutation_p.T1071M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1076	Fibronectin type-III 5.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					GTCCCACTGCGTGTAGGAGCT	0.567													A	153129872	G	A	153129872	3	1	161	1	0	0	0	0	1	0	0	0	8588	1145	40	1	566	1	L1CAM	23	153129872	Missense_Mutation	SNP	G	TCGA-CD-A4MJ-01A-11D-A25D-08	58346	153129872	2140688	799	88851											
EMD	2010	broad.mit.edu	37	chrX	153609114	153609114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgactctcttctgcaggTgcatgatgacgatcttttgt	9	11	3	3			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:153609114T>C	uc004fkl.2	+	5	649	c.401T>C	c.(400-402)GTG>GCG	p.V134A		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin	134	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	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)					CTTCTGCAGGTGCATGATGAC	0.607													C	153609114	T	C	153609114	3	2	161	1	0	0	0	0	1	0	0	0	5087	1710	59	3	419	3	EMD	23	153609114	Missense_Mutation	SNP	T	TCGA-CD-A4MJ-01A-11D-A25D-08	479242	153609114	1661446	800	88852											
NLGN4Y	22829	broad.mit.edu	37	chrY	16734098	16734098	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggataactgctcttgcCatcaagttcaccctcattga	7	12	4	1			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrY:16734098C>A	uc004ftg.2	+	2	351	c.99C>A	c.(97-99)GCC>GCA	p.A33A	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc011nas.1_Silent_p.A33A|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.A33A|NLGN4Y_uc004fti.3_Silent_p.A33A	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	33					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CTGCTCTTGCCATCAAGTTCA	0.463													A	16734098	C	A	16734098	2	1	161	1	0	0	0	0	0	0	0	1	10465	581	21	5		5	NLGN4Y	24	16734098	Silent	SNP	C	TCGA-CD-A4MJ-01A-11D-A25D-08		16734098	42639468	801	88853											
PLCH2	9651	broad.mit.edu	37	chr1	2415915	2415915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggatgaccaccaagggaCgctgggttttgaagagttct	13	9	1	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:2415915C>T	uc001aji.1	+	5	948	c.674C>T	c.(673-675)ACG>ATG	p.T225M	PLCH2_uc010nyz.1_Missense_Mutation_p.T13M|PLCH2_uc009vle.1_Missense_Mutation_p.T13M|PLCH2_uc001ajj.1_Missense_Mutation_p.T13M|PLCH2_uc001ajk.1_Missense_Mutation_p.T13M	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	225	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	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)		CACCAAGGGACGCTGGGTTTT	0.592													T	2415915	C	T	2415915	3	4	162	1	0	0	0	0	1	0	0	0	12038	536	19	1	692	1	PLCH2	1	2415915	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		2415915	246834706	1	88854											
GPATCH3	63906	broad.mit.edu	37	chr1	27223867	27223867	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggggctggctggtatAtctgccaggtaggttccttg	14	10	1	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:27223867A>G	uc001bne.2	-	2	830	c.801T>C	c.(799-801)GAT>GAC	p.D267D	GPATCH3_uc009vsp.1_Silent_p.D78D	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	267	Glu-rich.					intracellular	nucleic acid binding				0		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)		TGGCTGGTATATCTGCCAGGT	0.517													G	27223867	A	G	27223867	2	3	162	1	0	0	0	0	0	0	0	1	6592	446	16	3		3	GPATCH3	1	27223867	Silent	SNP	A	TCGA-CG-4300-01A-01D-1158-08	24807952	27223867	222026754	2	88855											
PTPRU	10076	broad.mit.edu	37	chr1	29644433	29644433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaatgcagccctgactgaCgtgagagcttggggtggagt	15	7	0	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:29644433C>T	uc001bru.2	+	26	3827	c.3717C>T	c.(3715-3717)GAC>GAT	p.D1239D	PTPRU_uc001brv.2_Silent_p.D1235D|PTPRU_uc001brw.2_Silent_p.D1229D|PTPRU_uc009vtq.2_Silent_p.D1235D|PTPRU_uc009vtr.2_Silent_p.D1226D|PTPRU_uc001brx.2_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1239	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		CCCTGACTGACGTGAGAGCTT	0.622													T	29644433	C	T	29644433	2	4	162	1	0	0	0	0	0	0	0	1	12813	550	19	1		1	PTPRU	1	29644433	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	2420566	29644433	219606188	3	88856											
DIRAS3	9077	broad.mit.edu	37	chr1	68512741	68512741	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggaaagcacaccgtggctGcagcccagcaactggcagta	13	12	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:68512741G>T	uc001ded.2	-	2	535	c.240C>A	c.(238-240)TGC>TGA	p.C80*	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	80					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			skin(1)	1						CACCGTGGCTGCAGCCCAGCA	0.612													T	68512741	G	T	68512741	4	4	162	1	0	0	0	0	0	1	0	0	4532	1311	46	5	453	5	DIRAS3	1	68512741	Nonsense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	38868308	68512741	180737880	4	88857											
WDR47	22911	broad.mit.edu	37	chr1	109514146	109514146	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctgcactgaatcactttgTccttgtgctcccccaccacc	5	17	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:109514146T>A	uc001dwj.2	-	15	3042	c.2666A>T	c.(2665-2667)GAC>GTC	p.D889V	WDR47_uc001dwl.2_Missense_Mutation_p.D897V|WDR47_uc001dwi.2_Missense_Mutation_p.D890V|WDR47_uc010ovf.1_Missense_Mutation_p.D814V	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	889	WD 7.									ovary(1)	1		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)		AATCACTTTGTCCTTGTGCTC	0.448													A	109514146	T	A	109514146	3	1	162	1	0	0	0	0	1	0	0	0	17297	1667	58	5	97	5	WDR47	1	109514146	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	41001405	109514146	139736475	5	88858											
LCE2A	353139	broad.mit.edu	37	chr1	152671534	152671534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctctgggggctgctgcGgctccagctctgggggctgc	17	14	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:152671534G>A	uc001faj.2	+	2	208	c.157G>A	c.(157-159)GGC>AGC	p.G53S		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	53	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCTGCTGCGGCTCCAGCTC	0.692													A	152671534	G	A	152671534	3	1	162	1	0	0	0	0	1	0	0	0	8665	1116	39	1	159	1	LCE2A	1	152671534	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	43157388	152671534	96579087	6	88859											
TRIM46	80128	broad.mit.edu	37	chr1	155154567	155154567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggtcaaggtgggcgtcGggctggagagcaagcttcaa	16	8	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:155154567G>A	uc001fhs.1	+	9	1911	c.1828G>A	c.(1828-1830)GGG>AGG	p.G610R	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.G484R|TRIM46_uc001fhu.1_Missense_Mutation_p.G587R|TRIM46_uc009wpg.1_Missense_Mutation_p.G597R|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	610	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTGGGCGTCGGGCTGGAGAG	0.647													A	155154567	G	A	155154567	3	1	162	1	0	0	0	0	1	0	0	0	16518	1116	39	1	1862	1	TRIM46	1	155154567	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	2483033	155154567	94096054	7	88860											
KCNT2	343450	broad.mit.edu	37	chr1	196300297	196300297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacttaccttgtctaatcTtaagcagcaaaatggtactt	6	8	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:196300297T>C	uc001gtd.1	-	18	2152	c.2092A>G	c.(2092-2094)AGA>GGA	p.R698G	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R648G|KCNT2_uc001gtf.1_Missense_Mutation_p.R698G|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R698G|KCNT2_uc001gth.1_Missense_Mutation_p.R219G	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	698	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTGTCTAATCTTAAGCAGCAA	0.299													C	196300297	T	C	196300297	3	2	162	1	0	0	0	0	1	0	0	0	8092	1617	56	3	1359	3	KCNT2	1	196300297	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	41145730	196300297	52950324	8	88861											
ASPM	259266	broad.mit.edu	37	chr1	197072455	197072455	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctatagtatgactgtatgaTgatagcacatttatgttgcc	8	6	1	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:197072455T>A	uc001gtu.2	-	18	6183	c.5926A>T	c.(5926-5928)ATC>TTC	p.I1976F	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1976	IQ 13.|IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GACTGTATGATGATAGCACAT	0.378													A	197072455	T	A	197072455	3	1	162	1	0	0	0	0	1	0	0	0	1056	1464	51	5	4551	5	ASPM	1	197072455	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	772158	197072455	52178166	9	88862											
CRB1	23418	broad.mit.edu	37	chr1	197390846	197390846	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgttgctctgcttaacTtctataatatgccatccaca	6	10	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:197390846T>G	uc001gtz.2	+	6	2023	c.1888T>G	c.(1888-1890)TTC>GTC	p.F630V	CRB1_uc010poz.1_Missense_Mutation_p.F561V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F518V|CRB1_uc010ppb.1_Missense_Mutation_p.F630V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F111V|CRB1_uc001gub.1_Missense_Mutation_p.F279V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	630	Extracellular (Potential).|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			ovary(5)|skin(3)|large_intestine(1)	9						TCTGCTTAACTTCTATAATAT	0.418													G	197390846	T	G	197390846	3	3	162	1	0	0	0	0	1	0	0	0	3848	1609	56	5	1910	5	CRB1	1	197390846	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	318391	197390846	51859775	10	88863											
LGTN	1939	broad.mit.edu	37	chr1	206772957	206772957	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagggctcgggtatgacgaaAgatgtaatcctaaaacccag	12	8	0	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:206772957A>T	uc001heh.2	-	10	1271	c.1062T>A	c.(1060-1062)TCT>TCA	p.S354S	LGTN_uc009xbw.2_Silent_p.S230S	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	354					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTATGACGAAAGATGTAATCC	0.532													T	206772957	A	T	206772957	2	4	162	1	0	0	0	0	0	0	0	1	8760	59	3	5		5	LGTN	1	206772957	Silent	SNP	A	TCGA-CG-4300-01A-01D-1158-08	9382111	206772957	42477664	11	88864											
OBSCN	84033	broad.mit.edu	37	chr1	228404777	228404777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccgtggctgggggccCggcgcagtttgagtgtgaga	20	8	0	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:228404777C>T	uc009xez.1	+	8	2485	c.2441C>T	c.(2440-2442)CCG>CTG	p.P814L	OBSCN_uc001hsn.2_Missense_Mutation_p.P814L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	814	Ig-like 8.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTGGGGGCCCGGCGCAGTTT	0.657													T	228404777	C	T	228404777	3	4	162	1	0	0	0	0	1	0	0	0	10812	652	23	1	2467	1	OBSCN	1	228404777	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	21631820	228404777	20845844	12	88865											
C1orf101	257044	broad.mit.edu	37	chr1	244735822	244735822	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaatacaaatacaggactaTcccttacatctggaagcaca	5	11	1	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr1:244735822T>A	uc001iam.2	+	11	1757	c.1698T>A	c.(1696-1698)TAT>TAA	p.Y566*	C1orf101_uc001iak.1_Nonsense_Mutation_p.Y120*|C1orf101_uc001ial.2_Nonsense_Mutation_p.Y566*|C1orf101_uc010pym.1_Nonsense_Mutation_p.Y415*|C1orf101_uc010pyn.1_Nonsense_Mutation_p.Y499*	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	566	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	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)			TACAGGACTATCCCTTACATC	0.353													A	244735822	T	A	244735822	4	1	162	1	0	0	0	0	0	1	0	0	1976	1442	50	5	1740	5	C1orf101	1	244735822	Nonsense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	16331045	244735822	4514799	13	88866											
NCOA1	8648	broad.mit.edu	37	chr2	24964989	24964989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggcatgacaggaaacataGgaggacagtttggcactgga	15	6	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:24964989G>C	uc002rfk.2	+	17	3898	c.3640G>C	c.(3640-3642)GGA>CGA	p.G1214R	NCOA1_uc010eye.2_Missense_Mutation_p.G1214R|NCOA1_uc002rfi.2_Missense_Mutation_p.G1063R|NCOA1_uc002rfj.2_Missense_Mutation_p.G1214R|NCOA1_uc002rfl.2_Missense_Mutation_p.G1214R|NCOA1_uc010eyf.2_Missense_Mutation_p.G107R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1214									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAACATAGGAGGACAGTT	0.483			T	PAX3	alveolar rhadomyosarcoma								C	24964989	G	C	24964989	3	2	162	1	0	0	0	0	1	0	0	0	10228	1001	35	5	3698	5	NCOA1	2	24964989	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08		24964989	218234384	14	88867											
RAB10	10890	broad.mit.edu	37	chr2	26350778	26350778	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaaagcaaatataaacatCgaaaaggcgttcctcacgtt	7	9	1	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:26350778C>T	uc002rgv.2	+	5	1226	c.477C>T	c.(475-477)ATC>ATT	p.I159I		NM_016131	NP_057215	P61026	RAB10_HUMAN	ras-related GTP-binding protein RAB10	159					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATAAACATCGAAAAGGCGT	0.348													T	26350778	C	T	26350778	2	4	162	1	0	0	0	0	0	0	0	1	12890	874	31	1		1	RAB10	2	26350778	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	1385789	26350778	216848595	15	88868											
OTOF	9381	broad.mit.edu	37	chr2	26695389	26695389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccacccgccttaccgCgtccagcttcaccatggtct	7	19	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:26695389C>T	uc002rhk.2	-	30	3989	c.3862G>A	c.(3862-3864)GCG>ACG	p.A1288T	OTOF_uc010yla.1_Missense_Mutation_p.A18T|OTOF_uc002rhh.2_Missense_Mutation_p.A521T|OTOF_uc002rhi.2_Missense_Mutation_p.A598T|OTOF_uc002rhj.2_Missense_Mutation_p.A521T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1288	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCTTACCGCGTCCAGCTTC	0.582													T	26695389	C	T	26695389	3	4	162	1	0	0	0	0	1	0	0	0	11303	768	27	1	2384	1	OTOF	2	26695389	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	344611	26695389	216503984	16	88869											
EHD3	30845	broad.mit.edu	37	chr2	31483732	31483732	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacatccagagtctgcccCgaaatgctgccctgcgcaag	12	14	1	1	rs143059948		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:31483732C>T	uc002rnu.2	+	4	1467	c.859C>T	c.(859-861)CGA>TGA	p.R287*	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	287					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	p.R287*(1)		skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GAGTCTGCCCCGAAATGCTGC	0.627													T	31483732	C	T	31483732	4	4	162	1	0	0	0	0	0	1	0	0	4979	644	23	1	873	1	EHD3	2	31483732	Nonsense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	4788343	31483732	211715641	17	88870											
ALMS1	7840	broad.mit.edu	37	chr2	73680445	73680445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcttaaggaaattcggaCacttttgatggaggcagaaa	10	6	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:73680445C>T	uc002sje.1	+	10	6905	c.6794C>T	c.(6793-6795)ACA>ATA	p.T2265I	ALMS1_uc002sjf.1_Missense_Mutation_p.T2221I|ALMS1_uc002sjg.2_Missense_Mutation_p.T1651I|ALMS1_uc002sjh.1_Missense_Mutation_p.T1651I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2263					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAAATTCGGACACTTTTGATG	0.373													T	73680445	C	T	73680445	3	4	162	1	0	0	0	0	1	0	0	0	535	478	17	4	6818	4	ALMS1	2	73680445	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	42196713	73680445	169518928	18	88871											
MKI67IP	84365	broad.mit.edu	37	chr2	122494398	122494415	+	In_Frame_Del	DEL	GGCCCAGCCGGGCCAGAA	GGCCCAGCCGGGCCAGAA	-													gcggattaagcgacaggattGgcccagccgggccagaaaaa							TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:122494397_122494414TGGCCCAGCCGGGCCAGAA>T	uc002tnk.3	-	0	90_107	c.13_30TTCTGGCCCGGCTGGGCCA>A	c.(13-30)tctggcccggctgggcca>A	p.SGPAGP5del	MKI67IP_uc010fls.3_In_Frame_Del_p.SGPAGP5del	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA.	5					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GCGACAGGATTGGCCCAGCCGGGCCAGAAAAAGTCGCC	0.638													-	122494415	GGCCCAGCCGGGCCAGAA	-	122494398	7	5	162	1	0	1	0	1	0	0	0	0	9599	1348	47	0	880	0	MKI67IP	2	122494398	In_Frame_Del	DEL	GGCCCAGCCGGGCCAGAA	TCGA-CG-4300-01A-01D-1158-08	48813953	122494398	120704975	19	88872											
PTPN18	26469	broad.mit.edu	37	chr2	131128152	131128152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttgtgggcgaacaggcGtcctgtgcaccgtggattat	16	9	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:131128152G>A	uc002trc.2	+	9	813	c.712G>A	c.(712-714)GTC>ATC	p.V238I	PTPN18_uc002trd.2_Missense_Mutation_p.V217I|PTPN18_uc002trb.2_Missense_Mutation_p.V131I|PTPN18_uc002tre.2_5'Flank	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	238	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					GCGAACAGGCGTCCTGTGCAC	0.582													A	131128152	G	A	131128152	3	1	162	1	0	0	0	0	1	0	0	0	12784	1145	40	1	746	1	PTPN18	2	131128152	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	8633754	131128152	112071221	20	88873											
PLEKHB2	55041	broad.mit.edu	37	chr2	131904309	131904309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctggcaggagcagccaCgggcatggccttagggtctc	15	12	1	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:131904309C>T	uc002tsg.3	+	8	1192	c.632C>T	c.(631-633)ACG>ATG	p.T211M	PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsj.3_Missense_Mutation_p.T210M|PLEKHB2_uc002tsf.3_Missense_Mutation_p.T219M|PLEKHB2_uc010zao.1_Missense_Mutation_p.T161M|PLEKHB2_uc010zap.1_Missense_Mutation_p.R175W|PLEKHB2_uc010zaq.1_Missense_Mutation_p.R167W|PLEKHB2_uc002tsi.3_Missense_Mutation_p.T252M	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B	211						membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GGAGCAGCCACGGGCATGGCC	0.522													T	131904309	C	T	131904309	3	4	162	1	0	0	0	0	1	0	0	0	12065	536	19	1	658	1	PLEKHB2	2	131904309	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	776157	131904309	111295064	21	88874											
NR4A2	4929	broad.mit.edu	37	chr2	157185018	157185018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttttatttgctaaacacaCgtattttgcatttttttgca	5	6	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:157185018C>T	uc002tyz.3	-	4	1314	c.892G>A	c.(892-894)GTG>ATG	p.V298M	NR4A2_uc002tyx.3_Missense_Mutation_p.V235M|NR4A2_uc010zcf.1_Missense_Mutation_p.V298M|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	298	Nuclear receptor.				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			ovary(3)	3						GCTAAACACACGTATTTTGCA	0.423													T	157185018	C	T	157185018	3	4	162	1	0	0	0	0	1	0	0	0	10633	536	19	1	924	1	NR4A2	2	157185018	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	25280709	157185018	86014355	22	88875											
TTN	7273	broad.mit.edu	37	chr2	179440876	179440876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcaacatctggaatcaccGctggctccccaacacctgca	6	16	3	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:179440876G>T	uc010zfg.1	-	275	62503	c.62279C>A	c.(62278-62280)GCG>GAG	p.A20760E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A14455E|TTN_uc010zfi.1_Missense_Mutation_p.A14388E|TTN_uc010zfj.1_Missense_Mutation_p.A14263E|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21687							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAATCACCGCTGGCTCCCC	0.463													T	179440876	G	T	179440876	3	4	162	1	0	0	0	0	1	0	0	0	16732	1087	38	5	38144	5	TTN	2	179440876	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	22255858	179440876	63758497	23	88876											
FN1	2335	broad.mit.edu	37	chr2	216232683	216232683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcccactcatctccaacGgcataatgggaaactgtgta	8	12	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:216232683G>A	uc002vfa.2	-	42	7187	c.6921C>T	c.(6919-6921)GCC>GCT	p.A2307A	FN1_uc002vfb.2_Silent_p.A2095A|FN1_uc002vfc.2_Silent_p.A2070A|FN1_uc002vfd.2_Silent_p.A2251A|FN1_uc002vfe.2_Silent_p.A2185A|FN1_uc002vff.2_Silent_p.A2160A|FN1_uc002vfg.2_Silent_p.A2126A|FN1_uc002vfh.2_Silent_p.A2006A|FN1_uc002vfi.2_Silent_p.A2276A|FN1_uc002vfj.2_Silent_p.A2097A|FN1_uc002vez.2_Silent_p.A470A|FN1_uc010zjp.1_Silent_p.A844A|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2216	Fibronectin type-I 10.|Fibrin-binding 2.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CATCTCCAACGGCATAATGGG	0.438													A	216232683	G	A	216232683	2	1	162	1	0	0	0	0	0	0	0	1	5962	1103	39	1		1	FN1	2	216232683	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	36791807	216232683	26966690	24	88877											
ATG9A	79065	broad.mit.edu	37	chr2	220091655	220091655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctggtgcagattataaaCgtgtaattgttaagaaaaag	9	4	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:220091655C>T	uc002vke.1	-	5	334	c.148G>A	c.(148-150)GTT>ATT	p.V50I	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.V50I|ANKZF1_uc010zkv.1_5'Flank|ANKZF1_uc010zkw.1_5'Flank|ANKZF1_uc002vkg.2_5'Flank|ANKZF1_uc002vkh.2_5'Flank|ANKZF1_uc002vki.2_5'Flank	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	50	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATTATAAACGTGTAATTGT	0.239													T	220091655	C	T	220091655	3	4	162	1	0	0	0	0	1	0	0	0	1102	550	19	1	2419	1	ATG9A	2	220091655	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	3858972	220091655	23107718	25	88878											
KIAA1486	57624	broad.mit.edu	37	chr2	226447571	226447571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactcgacccccagacccGtgtcgcaagatggggccaag	11	16	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr2:226447571G>A	uc002voe.2	+	4	1613	c.1438G>A	c.(1438-1440)GTG>ATG	p.V480M	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V250M	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	480										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCCCAGACCCGTGTCGCAAGA	0.667													A	226447571	G	A	226447571	3	1	162	1	0	0	0	0	1	0	0	0	8237	1145	40	1	1448	1	KIAA1486	2	226447571	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	6355916	226447571	16751802	26	88879											
SCN11A	11280	broad.mit.edu	37	chr3	38888949	38888949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagacagagcatgctgctggCaaaagtcttgaagttgaata	12	6	1	4			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:38888949C>A	uc011ays.1	-	26	4811	c.4612G>T	c.(4612-4614)GCC>TCC	p.A1538S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1538	IV.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGCTGCTGGCAAAAGTCTTG	0.438													A	38888949	C	A	38888949	3	1	162	1	0	0	0	0	1	0	0	0	13913	710	25	5	767	5	SCN11A	3	38888949	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		38888949	159133481	27	88880											
ERC2	26059	broad.mit.edu	37	chr3	56114990	56114990	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagattctttttcttccAgtcgtaatctcagcgcatct	7	10	4	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:56114990A>C	uc003dhr.1	-	7	1752	c.1496T>G	c.(1495-1497)CTG>CGG	p.L499R	ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	499	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTTTTCTTCCAGTCGTAATCT	0.413													C	56114990	A	C	56114990	3	2	162	1	0	0	0	0	1	0	0	0	5211	188	7	5	1411	5	ERC2	3	56114990	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	17226041	56114990	141907440	28	88881											
B4GALT4	8702	broad.mit.edu	37	chr3	118948741	118948741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaagttctaccttcttcGtggatgcttcattagtcaga	8	9	5	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:118948741G>A	uc003ecg.2	-	3	847	c.206C>T	c.(205-207)ACG>ATG	p.T69M	B4GALT4_uc003ece.1_Missense_Mutation_p.T69M|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.T69M|B4GALT4_uc003eci.2_Missense_Mutation_p.T69M|B4GALT4_uc011biy.1_Intron	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	69	Lumenal (Potential).				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				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TACCTTCTTCGTGGATGCTTC	0.393													A	118948741	G	A	118948741	3	1	162	1	0	0	0	0	1	0	0	0	1273	1145	40	1	852	1	B4GALT4	3	118948741	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	62833751	118948741	79073689	29	88882											
ARGFX	503582	broad.mit.edu	37	chr3	121305435	121305435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctccaatatggtagacttGggatttctctgaccagagta	9	9	1	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:121305435G>T	uc003eef.2	+	5	1031	c.936G>T	c.(934-936)TTG>TTT	p.L312F		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(114;0.152)		TGGTAGACTTGGGATTTCTCT	0.398													T	121305435	G	T	121305435	3	4	162	1	0	0	0	0	1	0	0	0	859	1339	47	5	950	5	ARGFX	3	121305435	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	2356694	121305435	76716995	30	88883											
CCDC37	348807	broad.mit.edu	37	chr3	126139048	126139048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcagccagcccagcgAgtccagcggtggcgactcca	14	15	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:126139048A>G	uc003eiu.1	+	11	1157	c.1058A>G	c.(1057-1059)GAG>GGG	p.E353G	CCDC37_uc010hsg.1_Missense_Mutation_p.E354G	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	353										ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		CAGCCCAGCGAGTCCAGCGGT	0.667													G	126139048	A	G	126139048	3	3	162	1	0	0	0	0	1	0	0	0	2809	304	11	3	1096	3	CCDC37	3	126139048	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	4833613	126139048	71883382	31	88884											
CP	1356	broad.mit.edu	37	chr3	148927978	148927978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacagattattaaaggtcCgatgagtcctgaggcaatat	9	6	0	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:148927978C>T	uc003ewy.3	-	3	836	c.583G>A	c.(583-585)GGA>AGA	p.G195R	CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.G195R|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	195	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		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)	ATTAAAGGTCCGATGAGTCCT	0.408													T	148927978	C	T	148927978	3	4	162	1	0	0	0	0	1	0	0	0	3787	661	23	1	2682	1	CP	3	148927978	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	22788930	148927978	49094452	32	88885											
SERPINI2	5276	broad.mit.edu	37	chr3	167183334	167183334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatttttcttagtaaaAtttatcagctgtgtgtcctc	6	8	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:167183334A>C	uc003fer.1	-	3	664	c.606T>G	c.(604-606)AAT>AAG	p.N202K	SERPINI2_uc003fes.1_Missense_Mutation_p.N212K|SERPINI2_uc003fet.1_Missense_Mutation_p.N202K	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	202					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						TCTTAGTAAAATTTATCAGCT	0.368													C	167183334	A	C	167183334	3	2	162	1	0	0	0	0	1	0	0	0	14119	98	4	5	635	5	SERPINI2	3	167183334	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	18255356	167183334	30839096	33	88886											
TNFSF10	8743	broad.mit.edu	37	chr3	172241149	172241149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtctgtcccaggctgggtCccccctggacctccatcata	10	16	2	0	rs138912628		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr3:172241149C>T	uc003fid.2	-	1	121	c.26G>A	c.(25-27)GGA>GAA	p.G9E	TNFSF10_uc003fie.2_Missense_Mutation_p.G9E|TNFSF10_uc010hwu.1_RNA	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	9	Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGGCTGGGTCCCCCCTGGAC	0.537													T	172241149	C	T	172241149	3	4	162	1	0	0	0	0	1	0	0	0	16298	855	30	4	839	4	TNFSF10	3	172241149	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	5057815	172241149	25781281	34	88887											
CHRNA9	55584	broad.mit.edu	37	chr4	40356537	40356537	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatagcaagagcggattaGtcacagatattggctttgct	10	7	2	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr4:40356537G>T	uc003gva.1	+	5	1456	c.1440G>T	c.(1438-1440)TAG>TAT	p.*480Y		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	480					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	GAGCGGATTAGTCACAGATAT	0.358													T	40356537	G	T	40356537	4	4	162	1	0	0	0	0	0	0	0	0	3389	1024	36	5	1458	5	CHRNA9	4	40356537	Nonstop_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08		40356537	150797739	35	88888											
HPSE	10855	broad.mit.edu	37	chr4	84230609	84230609	+	Frame_Shift_Del	DEL	A	A	-													tccaatacatcagggtttagAaaatcttccttggtagcagt							TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr4:84230608_84230608GA>G	uc003hoj.4	-	6	1030	c.931_931TC>C	c.(931-933)ctafs	p.L311fs	HPSE_uc003hoi.3_Frame_Shift_Del_p.L253fs|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Frame_Shift_Del_p.L54fs|HPSE_uc003hok.4_Frame_Shift_Del_p.L311fs|HPSE_uc011cct.2_Frame_Shift_Del_p.L311fs	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	311					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)	TCAGGGTTTAGAAAATCTTCC	0.284													-	84230609	A	-	84230609	7	5	162	1	0	1	0	1	0	0	0	0	7344	243	9	0	725	0	HPSE	4	84230609	Frame_Shift_Del	DEL	A	TCGA-CG-4300-01A-01D-1158-08	43874072	84230609	106923667	36	88889											
BANK1	55024	broad.mit.edu	37	chr4	102783799	102783799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagccctttggaataagaaAgtctggtgcatgaaagcttt	10	8	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr4:102783799A>C	uc003hvy.3	+	4	1015	c.741A>C	c.(739-741)AAA>AAC	p.K247N	BANK1_uc003hvx.3_Missense_Mutation_p.K232N|BANK1_uc010ill.2_Missense_Mutation_p.K114N|BANK1_uc003hvz.3_Missense_Mutation_p.K217N	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	247	DBB.				B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGAATAAGAAAGTCTGGTGCA	0.323													C	102783799	A	C	102783799	3	2	162	1	0	0	0	0	1	0	0	0	1309	69	3	5	755	5	BANK1	4	102783799	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	18553190	102783799	88370477	37	88890											
WDR17	116966	broad.mit.edu	37	chr4	177084327	177084327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctatggcatacctgattcGcggaaatgaactggagttgg	13	7	0	2	rs144009080		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr4:177084327G>A	uc003iuj.2	+	23	3101	c.2945G>A	c.(2944-2946)CGC>CAC	p.R982H	WDR17_uc003iuk.2_Missense_Mutation_p.R958H|WDR17_uc003ium.3_Missense_Mutation_p.R958H|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.R201H	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	982										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		TACCTGATTCGCGGAAATGAA	0.468													A	177084327	G	A	177084327	3	1	162	1	0	0	0	0	1	0	0	0	17274	1087	38	1	3031	1	WDR17	4	177084327	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	74300528	177084327	14069949	38	88891											
IRX1	79192	broad.mit.edu	37	chr5	3600751	3600752	+	Missense_Mutation	DNP	GC	GC	TT													ctcgtccccaggccagattcGccggcacagcagttaaagtc							TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:3600751_3600752GC>TT	uc003jde.2	+	3	1393_1394	c.1341_1342GC>TT	c.(1339-1344)TCGCCG>TCTTCG	p.P448S		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	448						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGCCAGATTCGCCGGCACAGCA	0.624													TT	3600752	GC	TT	3600751	3	4	162	1	0	0	0	0	1	0	0	0	7843	1074	38	5	1351	5	IRX1	5	3600751	Missense_Mutation	DNP	GC	TCGA-CG-4300-01A-01D-1158-08		3600751	177314509	39	88892											
NSUN2	54888	broad.mit.edu	37	chr5	6616908	6616908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttagtgaacacgtggaaTacaccatccttccaccttca	7	12	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:6616908T>C	uc003jdu.2	-	9	1018	c.953A>G	c.(952-954)TAT>TGT	p.Y318C	NSUN2_uc003jdt.2_Missense_Mutation_p.Y82C|NSUN2_uc011cmk.1_Missense_Mutation_p.Y283C|NSUN2_uc003jdv.2_Missense_Mutation_p.Y82C	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	318						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						ACACGTGGAATACACCATCCT	0.458													C	6616908	T	C	6616908	3	2	162	1	0	0	0	0	1	0	0	0	10678	1406	49	3	1394	3	NSUN2	5	6616908	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	3016157	6616908	174298352	40	88893											
TRIO	7204	broad.mit.edu	37	chr5	14368883	14368883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctacaggccaaccactacGacatggacatgatccgggac	10	13	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:14368883G>A	uc003jff.2	+	17	2947	c.2941G>A	c.(2941-2943)GAC>AAC	p.D981N	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.D932N|TRIO_uc003jfh.1_Missense_Mutation_p.D630N	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	981	Spectrin 3.				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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CAACCACTACGACATGGACAT	0.542													A	14368883	G	A	14368883	3	1	162	1	0	0	0	0	1	0	0	0	16549	1058	37	1	3007	1	TRIO	5	14368883	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	7751975	14368883	166546377	41	88894											
COL4A3BP	10087	broad.mit.edu	37	chr5	74721289	74721289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtctctaaatgtttcCatttcagccaacttctcacg	5	11	3	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:74721289C>A	uc011csu.1	-	5	914	c.492G>T	c.(490-492)ATG>ATT	p.M164I	COL4A3BP_uc003kds.2_Missense_Mutation_p.M164I|COL4A3BP_uc003kdt.2_Missense_Mutation_p.M292I|COL4A3BP_uc003kdu.2_Missense_Mutation_p.M164I	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	164					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		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)		TAAATGTTTCCATTTCAGCCA	0.388													A	74721289	C	A	74721289	3	1	162	1	0	0	0	0	1	0	0	0	3692	594	21	5	1434	5	COL4A3BP	5	74721289	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	60352406	74721289	106193971	42	88895											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81605974	81605974	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgttgtttccttttcttAggttgtctttgaagcttggt	10	7	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:81605974A>G	uc003khv.2	+	8	1406	c.81_splice	c.e8-2	p.W27_splice	ATP6AP1L_uc003khw.2_Splice_Site_p.W27_splice	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory						ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						TCCTTTTCTTAGGTTGTCTTT	0.333													G	81605974	A	G	81605974	5	3	162	1	0	0	0	0	0	0	1	0	1166	434	15	3	85	3	ATP6AP1L	5	81605974	Splice_Site	SNP	A	TCGA-CG-4300-01A-01D-1158-08	6884685	81605974	99309286	43	88896											
SLCO4C1	353189	broad.mit.edu	37	chr5	101583042	101583042	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaggaatatgggcagtttCgcacaatgagtttcacattt	9	7	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:101583042C>T	uc003knm.2	-	10	2012	c.1725G>A	c.(1723-1725)GCG>GCA	p.A575A		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	575	Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		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)		TGGGCAGTTTCGCACAATGAG	0.353													T	101583042	C	T	101583042	2	4	162	1	0	0	0	0	0	0	0	1	14730	871	31	1		1	SLCO4C1	5	101583042	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	19977068	101583042	79332218	44	88897											
TSLP	85480	broad.mit.edu	37	chr5	110409342	110409342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctattcggaaactcAggtaagcccgaagcctcaga	10	13	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:110409342A>G	uc003kpb.2	+	3	549	c.350A>G	c.(349-351)CAG>CGG	p.Q117R	TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_Missense_Mutation_p.Q21R	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1	117						extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCGGAAACTCAGGTAAGCCCG	0.498													G	110409342	A	G	110409342	3	3	162	1	0	0	0	0	1	0	0	0	16625	202	7	3	360	3	TSLP	5	110409342	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	8826300	110409342	70505918	45	88898											
NME5	8382	broad.mit.edu	37	chr5	137454573	137454573	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagagttggcattatatgTaaatttaaatagtccttagc	8	5	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:137454573T>C	uc003lce.2	-	5	567	c.489A>G	c.(487-489)TTA>TTG	p.L163L	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	163					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCATTATATGTAAATTTAAAT	0.323													C	137454573	T	C	137454573	2	2	162	1	0	0	0	0	0	0	0	1	10494	1635	57	3		3	NME5	5	137454573	Silent	SNP	T	TCGA-CG-4300-01A-01D-1158-08	27045231	137454573	43460687	46	88899											
FAM53C	51307	broad.mit.edu	37	chr5	137680803	137680803	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccgccccctccaagctgtgGactcccataaagcaccgggg	10	18	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:137680803G>C	uc003lcv.2	+	4	896	c.426G>C	c.(424-426)TGG>TGC	p.W142C	FAM53C_uc003lcw.2_Missense_Mutation_p.W142C|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	142										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAAGCTGTGGACTCCCATAA	0.692													C	137680803	G	C	137680803	3	2	162	1	0	0	0	0	1	0	0	0	5581	1183	41	5	436	5	FAM53C	5	137680803	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	226230	137680803	43234457	47	88900											
HSPA9	3313	broad.mit.edu	37	chr5	137902355	137902355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacatttagccttttcagcaGcttcccgtaccctctgaagt	6	14	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:137902355G>C	uc003ldf.2	-	9	1040	c.932C>G	c.(931-933)GCT>GGT	p.A311G	HSPA9_uc011cyw.1_Missense_Mutation_p.A242G	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	311					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTTTTCAGCAGCTTCCCGTAC	0.433													C	137902355	G	C	137902355	3	2	162	1	0	0	0	0	1	0	0	0	7417	971	34	5	1143	5	HSPA9	5	137902355	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	221552	137902355	43012905	48	88901											
PCDHB13	56123	broad.mit.edu	37	chr5	140595078	140595078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacaccctgttcgtccgCgagaacaacagccccgccct	7	19	0	1	rs138445636		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:140595078C>T	uc003lja.1	+	1	1570	c.1383C>T	c.(1381-1383)CGC>CGT	p.R461R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	461	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.607													T	140595078	C	T	140595078	2	4	162	1	0	0	0	0	0	0	0	1	11538	755	27	1		1	PCDHB13	5	140595078	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	2692723	140595078	40320182	49	88902											
PCDHB13	56123	broad.mit.edu	37	chr5	140596015	140596015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccgattatccccaacTtccctccccagtgccctggg	8	17	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:140596015T>G	uc003lja.1	+	1	2507	c.2320T>G	c.(2320-2322)TTC>GTC	p.F774V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	774	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCCCCAACTTCCCTCCCCA	0.488													G	140596015	T	G	140596015	3	3	162	1	0	0	0	0	1	0	0	0	11538	1609	56	5	2322	5	PCDHB13	5	140596015	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	937	140596015	40319245	50	88903											
GABRG2	2566	broad.mit.edu	37	chr5	161530999	161530999	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattctcatttgttggtctaAgaaataccaccgaagtagtg	8	7	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr5:161530999A>C	uc003lyz.3	+	6	1094	c.736A>C	c.(736-738)AGA>CGA	p.R246R	GABRG2_uc010jjc.2_Silent_p.R286R|GABRG2_uc003lyy.3_Silent_p.R246R|GABRG2_uc011dej.1_Silent_p.R151R	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	246	Extracellular (Probable).				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			ovary(4)|skin(1)	5	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)		TGTTGGTCTAAGAAATACCAC	0.393													C	161530999	A	C	161530999	2	2	162	1	0	0	0	0	0	0	0	1	6172	64	3	5		5	GABRG2	5	161530999	Silent	SNP	A	TCGA-CG-4300-01A-01D-1158-08	20934984	161530999	19384261	51	88904											
C6orf201	404220	broad.mit.edu	37	chr6	4099426	4099426	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaatgtccaccatagTtgtcaggtagactctaattt	7	11	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr6:4099426T>A	uc003mwa.3	+	3	1046	c.278T>A	c.(277-279)GTT>GAT	p.V93D	C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_Missense_Mutation_p.V93D|C6orf201_uc003mwb.3_RNA	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	hypothetical protein LOC404220	93											0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCCACCATAGTTGTCAGGTAG	0.393													A	4099426	T	A	4099426	3	1	162	1	0	0	0	0	1	0	0	0	2351	1725	60	5	284	5	C6orf201	6	4099426	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08		4099426	167015641	52	88905											
ABT1	29777	broad.mit.edu	37	chr6	26598746	26598746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacggccagggggacGtgaacgggctcgcctggcaa	17	12	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr6:26598746G>A	uc003nii.2	+	3	723	c.692G>A	c.(691-693)CGT>CAT	p.R231H		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	231					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						CCAGGGGGACGTGAACGGGCT	0.657													A	26598746	G	A	26598746	3	1	162	1	0	0	0	0	1	0	0	0	101	1145	40	1	702	1	ABT1	6	26598746	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	22499320	26598746	144516321	53	88906											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834674	27834674	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgcagctttaggttTtgctgctttgggcttagcgg	14	8	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr6:27834674T>A	uc003njx.2	-	1	686	c.634A>T	c.(634-636)AAA>TAA	p.K212*		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	212					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						GCTTTAGGTTTTGCTGCTTTG	0.547													A	27834674	T	A	27834674	4	1	162	1	0	0	0	0	0	1	0	0	7123	1850	64	5	50	5	HIST1H1B	6	27834674	Nonsense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	1235928	27834674	143280393	54	88907											
LAMA4	3910	broad.mit.edu	37	chr6	112462655	112462655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttcccaaattatagacGtataccagattatcattttt	4	7	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr6:112462655G>A	uc003pvu.2	-	21	3027	c.2718C>T	c.(2716-2718)TAC>TAT	p.Y906Y	LAMA4_uc003pvv.2_Silent_p.Y899Y|LAMA4_uc003pvt.2_Silent_p.Y899Y	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	906	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			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		AATTATAGACGTATACCAGAT	0.368													A	112462655	G	A	112462655	2	1	162	1	0	0	0	0	0	0	0	1	8608	1140	40	1		1	LAMA4	6	112462655	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	84627981	112462655	58652412	55	88908											
REPS1	85021	broad.mit.edu	37	chr6	139251228	139251228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctcacctggctgatcCccaacatctgcaatttaaaa	4	15	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr6:139251228C>T	uc003qii.2	-	9	1722	c.1143G>A	c.(1141-1143)GGG>GGA	p.G381G	REPS1_uc003qig.3_Silent_p.G381G|REPS1_uc011edr.1_Silent_p.G381G|REPS1_uc003qij.2_Silent_p.G381G|REPS1_uc003qik.2_Silent_p.G14G	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	381						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CTGGCTGATCCCCAACATCTG	0.398													T	139251228	C	T	139251228	2	4	162	1	0	0	0	0	0	0	0	1	13228	610	22	4		4	REPS1	6	139251228	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	26788573	139251228	31863839	56	88909											
HIVEP2	3097	broad.mit.edu	37	chr6	143093784	143093784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctacgctcttctctttccGgcgtttcctgttttcacagg	7	15	3	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr6:143093784G>A	uc003qjd.2	-	5	2835	c.2092C>T	c.(2092-2094)CGG>TGG	p.R698W		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCTCTTTCCGGCGTTTCCTG	0.498													A	143093784	G	A	143093784	3	1	162	1	0	0	0	0	1	0	0	0	7187	1115	39	1	5272	1	HIVEP2	6	143093784	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	3842556	143093784	28021283	57	88910											
THSD7A	221981	broad.mit.edu	37	chr7	11514005	11514005	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgactcgcacacagatgacTtttcttgtctgcatgccgac	8	12	2	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:11514005T>G	uc003ssf.3	-	8	2460	c.2208A>C	c.(2206-2208)AAA>AAC	p.K736N		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	736	TSP type-1 7.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACAGATGACTTTTCTTGTCT	0.512										HNSCC(18;0.044)			G	11514005	T	G	11514005	3	3	162	1	0	0	0	0	1	0	0	0	15876	1606	56	5	2845	5	THSD7A	7	11514005	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08		11514005	147624658	58	88911											
SEMA3D	223117	broad.mit.edu	37	chr7	84628757	84628757	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaattaagtagaaaacTacgtggctacagctctaggg	9	7	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:84628757T>C	uc003uic.2	-	17	2373	c.2333A>G	c.(2332-2334)TAG>TGG	p.*778W	SEMA3D_uc010led.2_Nonstop_Mutation_p.*778W|SEMA3D_uc003uib.2_Nonstop_Mutation_p.*417W	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	778					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						AGTAGAAAACTACGTGGCTAC	0.398													C	84628757	T	C	84628757	4	2	162	1	0	0	0	0	0	0	0	0	14027	1535	53	3	4	3	SEMA3D	7	84628757	Nonstop_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	73114752	84628757	74509906	59	88912											
GNGT1	2792	broad.mit.edu	37	chr7	93540228	93540228	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggctgtgtgatttcaTaatacaaacaaaaagaaaaa	8	4	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:93540228T>C	uc003unc.1	+	3	371	c.223T>C	c.(223-225)TAA>CAA	p.*75Q	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	75					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGTGATTTCATAATACAAACA	0.343													C	93540228	T	C	93540228	4	2	162	1	0	0	0	0	0	0	0	0	6533	1419	49	3	229	3	GNGT1	7	93540228	Nonstop_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	8911471	93540228	65598435	60	88913											
RELN	5649	broad.mit.edu	37	chr7	103155636	103155636	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcataatttacctgaAgttttgtcttccataaacat	6	8	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:103155636A>C	uc003vca.2	-	50	8275	c.8115T>G	c.(8113-8115)ACT>ACG	p.T2705T	RELN_uc010liz.2_Silent_p.T2705T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2705					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTACCTGAAGTTTTGTCTT	0.483													C	103155636	A	C	103155636	2	2	162	1	0	0	0	0	0	0	0	1	13220	59	3	5		5	RELN	7	103155636	Silent	SNP	A	TCGA-CG-4300-01A-01D-1158-08	9615408	103155636	55983027	61	88914											
LRGUK	136332	broad.mit.edu	37	chr7	133884049	133884049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaaggaaaaatatgaGggatatttgcggagaaaagg	13	2	0	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:133884049G>T	uc003vrm.1	+	14	1639	c.1623G>T	c.(1621-1623)GAG>GAT	p.E541D		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	541	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						AAAAATATGAGGGATATTTGC	0.363													T	133884049	G	T	133884049	3	4	162	1	0	0	0	0	1	0	0	0	8943	991	35	5	1677	5	LRGUK	7	133884049	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	30728413	133884049	25254614	62	88915											
FAM131B	9715	broad.mit.edu	37	chr7	143053722	143053722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaccttccggctgagaGcggtagacatctcagggtct	12	12	2	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:143053722G>A	uc003wct.2	-	6	2626	c.920C>T	c.(919-921)GCT>GTT	p.A307V	FAM131B_uc010loz.2_Missense_Mutation_p.A275V|FAM131B_uc003wcu.3_Missense_Mutation_p.A307V|FAM131B_uc010lpa.2_Missense_Mutation_p.A335V	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	307											0	Melanoma(164;0.205)					CCGGCTGAGAGCGGTAGACAT	0.587													A	143053722	G	A	143053722	3	1	162	1	0	0	0	0	1	0	0	0	5440	971	34	2	82	2	FAM131B	7	143053722	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	9169673	143053722	16084941	63	88916											
OR2F1	26211	broad.mit.edu	37	chr7	143657150	143657150	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcgggtctccctgtttgtCctgttcttggtcatgtatgt	10	10	3	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:143657150C>T	uc003wds.1	+	1	131	c.87C>T	c.(85-87)GTC>GTT	p.V29V		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					CCCTGTTTGTCCTGTTCTTGG	0.488													T	143657150	C	T	143657150	2	4	162	1	0	0	0	0	0	0	0	1	10996	842	30	4		4	OR2F1	7	143657150	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	603428	143657150	15481513	64	88917											
KRBA1	84626	broad.mit.edu	37	chr7	149420837	149420837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttagtgaagaccgaggCggtttcaggggattgtcccc	13	10	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:149420837C>T	uc003wfz.2	+	8	1184	c.785C>T	c.(784-786)GCG>GTG	p.A262V	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'UTR	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	262										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGACCGAGGCGGTTTCAGGG	0.557													T	149420837	C	T	149420837	3	4	162	1	0	0	0	0	1	0	0	0	8439	768	27	1	811	1	KRBA1	7	149420837	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	5763687	149420837	9717826	65	88918											
DPP6	1804	broad.mit.edu	37	chr7	154667658	154667658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggctgagaagttcgaGgtgagctgggagacggtgat	19	4	0	4			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr7:154667658G>A	uc003wlk.2	+	20	2055	c.1926G>A	c.(1924-1926)GAG>GAA	p.E642E	DPP6_uc003wli.2_Silent_p.E578E|DPP6_uc003wlm.2_Silent_p.E580E|DPP6_uc011kvq.1_Silent_p.E535E	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	642	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			AGAAGTTCGAGGTGAGCTGGG	0.647													A	154667658	G	A	154667658	2	1	162	1	0	0	0	0	0	0	0	1	4730	991	35	4		4	DPP6	7	154667658	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	5246821	154667658	4471005	66	88919											
FNTA	2339	broad.mit.edu	37	chr8	42932461	42932462	+	Frame_Shift_Ins	INS	-	-	AACACCAC													aagatacttcgttatttctaINSacaccactggctacaatgat							TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:42932460_42932461T>TAACACCAC	uc003xps.3	+	5	783_784	c.735_736T>TAACACCAC	c.(733-738)tctaacfs	p.S245fs	FNTA_uc003xpt.3_Frame_Shift_Ins_p.S154fs|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	245					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	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)			TCGTTATTTCTAACACCACTGG	0.401													AACACCAC	42932462	-	AACACCAC	42932461	7	5	162	1	0	1	1	0	0	0	0	0	5977	362	13	0	758	0	FNTA	8	42932461	Frame_Shift_Ins	INS	-	TCGA-CG-4300-01A-01D-1158-08		42932461	103431561	67	88920											
PI15	51050	broad.mit.edu	37	chr8	75756215	75756215	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagatttttttcccctacaGgtttgggatgaaaatcttgc	9	7	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:75756215G>T	uc003yal.2	+	3	453	c.274_splice	c.e3-1	p.V92_splice	uc003yak.1_Intron|PI15_uc003yam.2_Splice_Site_p.V92_splice	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein							extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTCCCCTACAGGTTTGGGATG	0.393													T	75756215	G	T	75756215	5	4	162	1	0	0	0	0	0	0	1	0	11868	1014	35	5	279	5	PI15	8	75756215	Splice_Site	SNP	G	TCGA-CG-4300-01A-01D-1158-08	32823754	75756215	70607807	68	88921											
ZFHX4	79776	broad.mit.edu	37	chr8	77617116	77617116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtggacttgtccaaaTtcgatggttgtgttagcgat	11	6	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:77617116T>G	uc003yav.2	+	2	1180	c.793T>G	c.(793-795)TTC>GTC	p.F265V	ZFHX4_uc003yat.1_Missense_Mutation_p.F265V|ZFHX4_uc003yau.1_Missense_Mutation_p.F265V|ZFHX4_uc003yaw.1_Missense_Mutation_p.F265V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	265						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTGTCCAAATTCGATGGTTG	0.418										HNSCC(33;0.089)			G	77617116	T	G	77617116	3	3	162	1	0	0	0	0	1	0	0	0	17632	1493	52	5	795	5	ZFHX4	8	77617116	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	1860901	77617116	68746906	69	88922											
CA13	377677	broad.mit.edu	37	chr8	86193528	86193528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctggtgagcaatcacCgcccaccacagcctctaaag	7	15	3	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:86193528C>T	uc003ydg.2	+	7	1081	c.739C>T	c.(739-741)CGC>TGC	p.R247C	CA13_uc003ydf.1_Intron	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	247					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						GAGCAATCACCGCCCACCACA	0.498													T	86193528	C	T	86193528	3	4	162	1	0	0	0	0	1	0	0	0	2514	652	23	1	765	1	CA13	8	86193528	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	8576412	86193528	60170494	70	88923											
TMEM64	169200	broad.mit.edu	37	chr8	91657358	91657358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaaacactgcattctgaAgcccaaaaggtatgggtgtc	10	10	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:91657358A>G	uc003yen.2	-	1	776	c.776T>C	c.(775-777)CTT>CCT	p.L259P	TMEM64_uc003yeo.2_Intron|TMEM64_uc011lgf.1_Missense_Mutation_p.L259P|uc003yep.2_5'Flank	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	259						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TGCATTCTGAAGCCCAAAAGG	0.587											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	91657358	A	G	91657358	3	3	162	1	0	0	0	0	1	0	0	0	16190	72	3	3	378	3	TMEM64	8	91657358	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	5463830	91657358	54706664	71	88924											
POP1	10940	broad.mit.edu	37	chr8	99140731	99140731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagccacaacgtcaaacGccttcccagacggttacagg	9	14	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:99140731G>A	uc003yij.3	+	4	549	c.449G>A	c.(448-450)CGC>CAC	p.R150H	POP1_uc011lgv.1_Missense_Mutation_p.R150H|POP1_uc003yik.2_Missense_Mutation_p.R150H	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	150					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AACGTCAAACGCCTTCCCAGA	0.453													A	99140731	G	A	99140731	3	1	162	1	0	0	0	0	1	0	0	0	12251	1087	38	1	459	1	POP1	8	99140731	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	7483373	99140731	47223291	72	88925											
TRPS1	7227	broad.mit.edu	37	chr8	116616721	116616721	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatcattctgattaatgacaGagcccctggaaagcttatca	8	9	3	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:116616721G>A	uc003ynz.2	-	3	1895	c.1436C>T	c.(1435-1437)TCT>TTT	p.S479F	TRPS1_uc011lhy.1_Missense_Mutation_p.S483F|TRPS1_uc003yny.2_Missense_Mutation_p.S492F|TRPS1_uc010mcy.2_Missense_Mutation_p.S479F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	479					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			ATTAATGACAGAGCCCCTGGA	0.463									Langer-Giedion_syndrome				A	116616721	G	A	116616721	3	1	162	1	0	0	0	0	1	0	0	0	16590	942	33	4	2425	4	TRPS1	8	116616721	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	17475990	116616721	29747301	73	88926											
EXT1	2131	broad.mit.edu	37	chr8	118847770	118847770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcccatccattgctgagCatcacagggacgcaggcagc	10	14	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:118847770C>T	uc003yok.1	-	3	1850	c.1077G>A	c.(1075-1077)ATG>ATA	p.M359I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	359	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CATTGCTGAGCATCACAGGGA	0.483			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	118847770	C	T	118847770	3	4	162	1	0	0	0	0	1	0	0	0	5323	710	25	2	1199	2	EXT1	8	118847770	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	2231049	118847770	27516252	74	88927											
LYPD2	137797	broad.mit.edu	37	chr8	143832577	143832577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggacagacgtagcagcGcagggccggcgctggggaga	18	12	0	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:143832577G>A	uc003ywz.2	-	2	153	c.70C>T	c.(70-72)CGC>TGC	p.R24C		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	24						anchored to membrane|plasma membrane					0	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)					ACGTAGCAGCGCAGGGCCGGC	0.637													A	143832577	G	A	143832577	3	1	162	1	0	0	0	0	1	0	0	0	9110	1087	38	1	315	1	LYPD2	8	143832577	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	24984807	143832577	2531445	75	88928											
CPSF1	29894	broad.mit.edu	37	chr8	145623313	145623313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcactgcacgatgggggcGcccaggtccacggggatgaa	17	12	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr8:145623313G>A	uc003zcj.2	-	20	2004	c.1929C>T	c.(1927-1929)GGC>GGT	p.G643G		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	643					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			skin(1)	1	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)			CGATGGGGGCGCCCAGGTCCA	0.637													A	145623313	G	A	145623313	2	1	162	1	0	0	0	0	0	0	0	1	3824	1074	38	1		1	CPSF1	8	145623313	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	1790736	145623313	740709	76	88929											
IFNW1	3467	broad.mit.edu	37	chr9	21141013	21141013	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggtctctatctttacttCtcagtctttcttgcatgttt	5	11	5	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr9:21141013C>A	uc003zol.1	-	1	1132	c.557G>T	c.(556-558)AGA>ATA	p.R186I		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1 precursor	186					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCTTTACTTCTCAGTCTTTC	0.378													A	21141013	C	A	21141013	3	1	162	1	0	0	0	0	1	0	0	0	7552	913	32	5	34	5	IFNW1	9	21141013	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		21141013	120072418	77	88930											
IFNA14	3448	broad.mit.edu	37	chr9	21239632	21239632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttttctaggagggtctcAtcccaagcagcagatgagtt	10	8	2	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr9:21239632A>G	uc010mis.2	-	1	347	c.303T>C	c.(301-303)GAT>GAC	p.D101D	IFNA14_uc003zoo.1_RNA	NM_002172	NP_002163	P01570	IFN14_HUMAN	interferon, alpha 14 precursor	101					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				0				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGGGTCTCATCCCAAGCAG	0.478													G	21239632	A	G	21239632	2	3	162	1	0	0	0	0	0	0	0	1	7534	214	8	3		3	IFNA14	9	21239632	Silent	SNP	A	TCGA-CG-4300-01A-01D-1158-08	98619	21239632	119973799	78	88931											
ZNF462	58499	broad.mit.edu	37	chr9	109686646	109686646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggatccttaaattataaTatcatgatgcacgagggatt	9	7	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr9:109686646T>G	uc004bcz.2	+	3	742	c.453T>G	c.(451-453)AAT>AAG	p.N151K	ZNF462_uc010mto.2_5'UTR|ZNF462_uc004bda.2_5'UTR	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	151					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TAAATTATAATATCATGATGC	0.438													G	109686646	T	G	109686646	3	3	162	1	0	0	0	0	1	0	0	0	17923	1403	49	5	459	5	ZNF462	9	109686646	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	88447014	109686646	31526785	79	88932											
USP20	10868	broad.mit.edu	37	chr9	132637711	132637711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaagttcaacaccttcgCggagccaggccccatcacca	7	17	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr9:132637711C>T	uc004bys.2	+	20	2382	c.2171C>T	c.(2170-2172)GCG>GTG	p.A724V	USP20_uc004byr.2_Missense_Mutation_p.A724V|USP20_uc004byt.1_Missense_Mutation_p.A724V	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	724	DUSP 1.				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	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				AACACCTTCGCGGAGCCAGGC	0.682													T	132637711	C	T	132637711	3	4	162	1	0	0	0	0	1	0	0	0	17049	768	27	1	2241	1	USP20	9	132637711	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	22951065	132637711	8575720	80	88933											
PTCHD3	374308	broad.mit.edu	37	chr10	27687305	27687305	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggaagaaatgatttcatttGatgaagaaatattaatatca	8	2	2	5			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr10:27687305G>C	uc001itu.2	-	4	2340	c.2222C>G	c.(2221-2223)TCA>TGA	p.S741*		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	741					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GATTTCATTTGATGAAGAAAT	0.313													C	27687305	G	C	27687305	4	2	162	1	0	0	0	0	0	1	0	0	12734	1294	45	5	85	5	PTCHD3	10	27687305	Nonsense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08		27687305	107847442	81	88934											
C10orf71	118461	broad.mit.edu	37	chr10	50531052	50531052	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatctttcgacaggaccgaGagccaacgttgtgagagcag	12	9	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr10:50531052G>T	uc010qgp.1	+	3	801	c.462G>T	c.(460-462)GAG>GAT	p.E154D		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	154											0						ACAGGACCGAGAGCCAACGTT	0.512													T	50531052	G	T	50531052	3	4	162	1	0	0	0	0	1	0	0	0	1614	933	33	5	464	5	C10orf71	10	50531052	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	22843747	50531052	85003695	82	88935											
KIAA0913	23053	broad.mit.edu	37	chr10	75552483	75552483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggaggatgatgactAccaggcgtactatctgaatg	14	6	1	4			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr10:75552483A>G	uc009xrl.2	+	10	2218	c.2186A>G	c.(2185-2187)TAC>TGC	p.Y729C	KIAA0913_uc001jve.2_Missense_Mutation_p.Y729C|KIAA0913_uc001jvf.2_Missense_Mutation_p.Y729C|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.Y152C|KIAA0913_uc010qkr.1_Missense_Mutation_p.Y152C|KIAA0913_uc001jvj.2_Missense_Mutation_p.Y152C	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	729							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GATGATGACTACCAGGCGTAC	0.602													G	75552483	A	G	75552483	3	3	162	1	0	0	0	0	1	0	0	0	8200	391	14	3	2224	3	KIAA0913	10	75552483	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	25021431	75552483	59982264	83	88936											
PLCE1	51196	broad.mit.edu	37	chr10	96025643	96025643	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctctcatactattacatCgaatcttcgcacaataccta	2	15	2	0	rs145456568	by1000genomes	TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr10:96025643C>T	uc001kjk.2	+	16	4843	c.4209C>T	c.(4207-4209)ATC>ATT	p.I1403I	PLCE1_uc010qnx.1_Silent_p.I1387I|PLCE1_uc001kjm.2_Silent_p.I1095I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1403	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				ACTATTACATCGAATCTTCGC	0.443													T	96025643	C	T	96025643	2	4	162	1	0	0	0	0	0	0	0	1	12034	874	31	1		1	PLCE1	10	96025643	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	20473160	96025643	39509104	84	88937											
SORCS3	22986	broad.mit.edu	37	chr10	106959784	106959784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacttcagcctccgctcCgaatggcaattggtgaaagt	11	12	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr10:106959784C>T	uc001kyi.1	+	15	2264	c.2037C>T	c.(2035-2037)TCC>TCT	p.S679S	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	679	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		GCCTCCGCTCCGAATGGCAAT	0.502													T	106959784	C	T	106959784	2	4	162	1	0	0	0	0	0	0	0	1	14932	639	23	1		1	SORCS3	10	106959784	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	10934141	106959784	28574963	85	88938											
FGFR2	2263	broad.mit.edu	37	chr10	123274680	123274680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtcagcttgtgcacagccGgctggctgctgaagtctggc	15	11	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr10:123274680G>C	uc010qtk.1	-	9	1885	c.1238C>G	c.(1237-1239)CCG>CGG	p.P413R	FGFR2_uc010qtg.1_Missense_Mutation_p.P301R|FGFR2_uc010qth.1_Missense_Mutation_p.P298R|FGFR2_uc010qti.1_Missense_Mutation_p.P324R|FGFR2_uc010qtj.1_Missense_Mutation_p.P414R|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.P298R|FGFR2_uc001lfl.3_Missense_Mutation_p.P414R|FGFR2_uc001lfm.2_Missense_Mutation_p.P325R|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.P23R	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	413	Cytoplasmic (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGCACAGCCGGCTGGCTGCT	0.493		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				C	123274680	G	C	123274680	3	2	162	1	0	0	0	0	1	0	0	0	5866	1116	39	5	1371	5	FGFR2	10	123274680	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	16314896	123274680	12260067	86	88939											
ATHL1	80162	broad.mit.edu	37	chr11	290921	290921	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcacaggcctgggcccagctCtgggtagaatgtggcttgga	16	10	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:290921C>G	uc010qvu.1	+	4	829	c.714C>G	c.(712-714)CTC>CTG	p.L238L	ATHL1_uc001lor.3_Silent_p.L61L|ATHL1_uc001los.1_Silent_p.L238L|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	238					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGCCCAGCTCTGGGTAGAAT	0.692													G	290921	C	G	290921	2	3	162	1	0	0	0	0	0	0	0	1	1104	900	32	5		5	ATHL1	11	290921	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08		290921	134715595	87	88940											
MUC5B	727897	broad.mit.edu	37	chr11	1261524	1261524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaacggcaccatcatcAggaaggctgtggcatgtcct	12	11	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:1261524A>T	uc009ycr.1	+	46	6094	c.5968A>T	c.(5968-5970)AGG>TGG	p.R1990W	MUC5B_uc001ltb.2_Missense_Mutation_p.R1300W|MUC5B_uc001lta.2_Missense_Mutation_p.R965W	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1297					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CACCATCATCAGGAAGGCTGT	0.597													T	1261524	A	T	1261524	3	4	162	1	0	0	0	0	1	0	0	0	9979	179	7	5	4016	5	MUC5B	11	1261524	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	970603	1261524	133744992	88	88941											
COPB1	1315	broad.mit.edu	37	chr11	14515257	14515257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatgctccaaacatgcaCgaatagctggcattaaaggt	10	9	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:14515257C>T	uc001mli.2	-	4	729	c.422G>A	c.(421-423)CGT>CAT	p.R141H	COPB1_uc001mlg.2_Missense_Mutation_p.R141H|COPB1_uc001mlh.2_Missense_Mutation_p.R141H|PSMA1_uc010rcp.1_RNA	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	141	HEAT 2.				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			ovary(1)|central_nervous_system(1)	2						CAAACATGCACGAATAGCTGG	0.368													T	14515257	C	T	14515257	3	4	162	1	0	0	0	0	1	0	0	0	3728	536	19	1	2515	1	COPB1	11	14515257	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	13253733	14515257	120491259	89	88942											
PDE3B	5140	broad.mit.edu	37	chr11	14865418	14865418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgaattgcttatatttcttCgaagagctgctctaatcctg	8	9	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:14865418C>T	uc001mln.2	+	12	2719	c.2366C>T	c.(2365-2367)TCG>TTG	p.S789L	PDE3B_uc010rcr.1_Missense_Mutation_p.S738L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	789	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TATATTTCTTCGAAGAGCTGC	0.393													T	14865418	C	T	14865418	3	4	162	1	0	0	0	0	1	0	0	0	11638	893	31	1	2412	1	PDE3B	11	14865418	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	350161	14865418	120141098	90	88943											
OR5L2	26338	broad.mit.edu	37	chr11	55595391	55595391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatacactctgcagagAgcaggcacaaagctttctcc	9	11	2	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:55595391A>G	uc001nhy.1	+	1	697	c.697A>G	c.(697-699)AGC>GGC	p.S233G		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CTCTGCAGAGAGCAGGCACAA	0.493										HNSCC(27;0.073)			G	55595391	A	G	55595391	3	3	162	1	0	0	0	0	1	0	0	0	11171	304	11	3	699	3	OR5L2	11	55595391	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	40729973	55595391	79411125	91	88944			1	45		2	2	15	N	T_A	7.14521e-05
OR5L2	26338	broad.mit.edu	37	chr11	55595405	55595405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagagagcaggcacaaagcTttctccacctgtgcctccca	9	15	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:55595405T>C	uc001nhy.1	+	1	711	c.711T>C	c.(709-711)GCT>GCC	p.A237A		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				GGCACAAAGCTTTCTCCACCT	0.483										HNSCC(27;0.073)			C	55595405	T	C	55595405	2	2	162	1	0	0	0	0	0	0	0	1	11171	1596	56	3		3	OR5L2	11	55595405	Silent	SNP	T	TCGA-CG-4300-01A-01D-1158-08	14	55595405	79411111	92	88945			1	45		2	2	15	N	T_A	7.14521e-05
OR5T1	390155	broad.mit.edu	37	chr11	56043937	56043937	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgtatgtgagaccaAgttccagctacacttcggac	8	11	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:56043937A>C	uc001nio.1	+	1	823	c.823A>C	c.(823-825)AGT>CGT	p.S275R		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TGTGAGACCAAGTTCCAGCTA	0.423													C	56043937	A	C	56043937	3	2	162	1	0	0	0	0	1	0	0	0	11181	72	3	5	825	5	OR5T1	11	56043937	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	448532	56043937	78962579	93	88946											
OR5R1	219479	broad.mit.edu	37	chr11	56185581	56185581	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattaaagtaatcaacccaAgattgcccagcactgtgacc	7	11	1	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:56185581A>C	uc010rji.1	-	1	128	c.128T>G	c.(127-129)CTT>CGT	p.L43R		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AATCAACCCAAGATTGCCCAG	0.453													C	56185581	A	C	56185581	3	2	162	1	0	0	0	0	1	0	0	0	11180	72	3	5	848	5	OR5R1	11	56185581	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	141644	56185581	78820935	94	88947											
SLC22A12	116085	broad.mit.edu	37	chr11	64359339	64359339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttggaccccaatgccaCggccaccagctggagcgagg	13	15	1	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:64359339C>T	uc001oam.1	+	1	1058	c.311C>T	c.(310-312)ACG>ATG	p.T104M	SLC22A12_uc009ypr.1_Missense_Mutation_p.T104M|SLC22A12_uc001oal.1_Translation_Start_Site|SLC22A12_uc009yps.1_Missense_Mutation_p.T104M|SLC22A12_uc001oan.1_Missense_Mutation_p.T104M|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	104					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CCCAATGCCACGGCCACCAGC	0.667													T	64359339	C	T	64359339	3	4	162	1	0	0	0	0	1	0	0	0	14443	536	19	1	313	1	SLC22A12	11	64359339	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	8173758	64359339	70647177	95	88948											
FAT3	120114	broad.mit.edu	37	chr11	92086909	92086909	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctccccagaaatttacaGattcattgttagagcctctg	6	11	2	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:92086909G>A	uc001pdj.3	+	1	1648	c.1631G>A	c.(1630-1632)AGA>AAA	p.R544K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	544	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAATTTACAGATTCATTGTT	0.413										TCGA Ovarian(4;0.039)			A	92086909	G	A	92086909	3	1	162	1	0	0	0	0	1	0	0	0	5691	942	33	4	1633	4	FAT3	11	92086909	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	27727570	92086909	42919607	96	88949											
MED17	9440	broad.mit.edu	37	chr11	93527121	93527121	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgttgtcatataggtttCaatacaaaaacaggctccag	7	7	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr11:93527121C>T	uc001pem.3	+	5	1054	c.779C>T	c.(778-780)TCA>TTA	p.S260L		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	260					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			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATATAGGTTTCAATACAAAAA	0.328													T	93527121	C	T	93527121	3	4	162	1	0	0	0	0	1	0	0	0	9435	838	29	4	797	4	MED17	11	93527121	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	1440212	93527121	41479395	97	88950											
RASSF8	11228	broad.mit.edu	37	chr12	26217702	26217702	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaatcaaaaggagggaaccGaaaaggaaatcactgacatt	9	7	3	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:26217702G>T	uc001rgx.2	+	3	596	c.375G>T	c.(373-375)CCG>CCT	p.P125P	RASSF8_uc001rgy.2_Silent_p.P125P|RASSF8_uc001rgz.2_Silent_p.P125P|RASSF8_uc009zjd.1_Silent_p.P125P|RASSF8_uc009zje.1_Silent_p.P125P	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	125					signal transduction						0	Colorectal(261;0.0847)					GGAGGGAACCGAAAAGGAAAT	0.413													T	26217702	G	T	26217702	2	4	162	1	0	0	0	0	0	0	0	1	13092	1045	37	5		5	RASSF8	12	26217702	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08		26217702	107634193	98	88951											
FAR2	55711	broad.mit.edu	37	chr12	29423406	29423406	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacaattgcagctttctaTggcggcaagtccattctcat	7	12	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:29423406T>G	uc001ris.3	+	2	171	c.24T>G	c.(22-24)TAT>TAG	p.Y8*	FAR2_uc001rit.2_Nonsense_Mutation_p.Y8*|FAR2_uc009zjm.2_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	8					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				0						CAGCTTTCTATGGCGGCAAGT	0.458													G	29423406	T	G	29423406	4	3	162	1	0	0	0	0	0	1	0	0	5675	1471	51	5	26	5	FAR2	12	29423406	Nonsense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	3205704	29423406	104428489	99	88952											
CNTN1	1272	broad.mit.edu	37	chr12	41327301	41327301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatattgtagttcagTtcaaggatgtatatgcattg	10	5	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:41327301T>C	uc001rmm.1	+	8	855	c.742T>C	c.(742-744)TTC>CTC	p.F248L	CNTN1_uc009zjy.1_Missense_Mutation_p.F248L|CNTN1_uc001rmn.1_Missense_Mutation_p.F237L|CNTN1_uc001rmo.2_Missense_Mutation_p.F248L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	248	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	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)				TGTAGTTCAGTTCAAGGATGT	0.289													C	41327301	T	C	41327301	3	2	162	1	0	0	0	0	1	0	0	0	3640	1725	60	3	768	3	CNTN1	12	41327301	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	11903895	41327301	92524594	100	88953											
SLC38A1	81539	broad.mit.edu	37	chr12	46598091	46598091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaaacttacctttgaaTtgaaggtaacatattttggc	8	6	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:46598091T>G	uc001rpa.2	-	11	1073	c.815A>C	c.(814-816)AAT>ACT	p.N272T	SLC38A1_uc001rpb.2_Missense_Mutation_p.N272T|SLC38A1_uc001rpc.2_Missense_Mutation_p.N272T|SLC38A1_uc001rpd.2_Missense_Mutation_p.N272T|SLC38A1_uc001rpe.2_Missense_Mutation_p.N272T|SLC38A1_uc010slh.1_Missense_Mutation_p.N245T|SLC38A1_uc009zkj.1_Missense_Mutation_p.N272T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	272	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	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)			TACCTTTGAATTGAAGGTAAC	0.333													G	46598091	T	G	46598091	3	3	162	1	0	0	0	0	1	0	0	0	14601	1493	52	5	676	5	SLC38A1	12	46598091	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	5270790	46598091	87253804	101	88954											
ESPL1	9700	broad.mit.edu	37	chr12	53663425	53663425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgatcagagccttggtGggtgagagagggagctcttc	16	8	2	4			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:53663425G>A	uc001sck.2	+	3	790	c.699G>A	c.(697-699)GTG>GTA	p.V233V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	233					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			lung(1)|kidney(1)|skin(1)	3						GAGCCTTGGTGGGTGAGAGAG	0.567													A	53663425	G	A	53663425	2	1	162	1	0	0	0	0	0	0	0	1	5253	1335	47	4		4	ESPL1	12	53663425	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	7065334	53663425	80188470	102	88955											
BAZ2A	11176	broad.mit.edu	37	chr12	57005592	57005592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccttctccagtgatcTcttccacgtcagcagtggtt	9	12	3	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:57005592T>C	uc001slq.1	-	6	1774	c.1580A>G	c.(1579-1581)GAG>GGG	p.E527G	BAZ2A_uc001slp.1_Missense_Mutation_p.E525G|BAZ2A_uc009zow.1_Missense_Mutation_p.E495G	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	527					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				0						TCCAGTGATCTCTTCCACGTC	0.488													C	57005592	T	C	57005592	3	2	162	1	0	0	0	0	1	0	0	0	1331	1551	54	3	4233	3	BAZ2A	12	57005592	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	3342167	57005592	76846303	103	88956											
PLXNC1	10154	broad.mit.edu	37	chr12	94645229	94645229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaacctggagctctacGtcgagcaggagtcagttcct	13	10	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:94645229G>A	uc001tdc.2	+	15	3055	c.2806G>A	c.(2806-2808)GTC>ATC	p.V936I		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	936	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GGAGCTCTACGTCGAGCAGGA	0.428													A	94645229	G	A	94645229	3	1	162	1	0	0	0	0	1	0	0	0	12126	1145	40	1	2864	1	PLXNC1	12	94645229	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	37639637	94645229	39206666	104	88957											
CCDC38	120935	broad.mit.edu	37	chr12	96330276	96330276	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattcagtgttggcaataaAtttgaggacattttcttgcc	9	6	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr12:96330276A>G	uc001tek.1	-	2	246	c.12T>C	c.(10-12)AAT>AAC	p.N4N		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	4										skin(1)	1						TTGGCAATAAATTTGAGGACA	0.343													G	96330276	A	G	96330276	2	3	162	1	0	0	0	0	0	0	0	1	2810	98	4	3		3	CCDC38	12	96330276	Silent	SNP	A	TCGA-CG-4300-01A-01D-1158-08	1685047	96330276	37521619	105	88958											
C13orf1	57213	broad.mit.edu	37	chr13	50502102	50502102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctggcagcctattttTctcttcattgttgtggtaaa	9	7	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr13:50502102T>C	uc001vdl.2	-	3	605	c.343A>G	c.(343-345)AAA>GAA	p.K115E	C13orf1_uc001vdm.2_Missense_Mutation_p.K76E|C13orf1_uc010tgm.1_Intron|C13orf1_uc010adj.2_Missense_Mutation_p.K115E	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	chromosome 13 open reading frame 1 isoform 1	115	B30.2/SPRY.										0		Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117)		GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208)		AGCCTATTTTTCTCTTCATTG	0.448													C	50502102	T	C	50502102	3	2	162	1	0	0	0	0	1	0	0	0	1717	1792	62	3	259	3	C13orf1	13	50502102	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08		50502102	64667776	106	88959											
TBC1D4	9882	broad.mit.edu	37	chr13	75898422	75898422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgaattctggtaaaAgcttttcaggaaagaggggg	12	6	3	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr13:75898422A>G	uc001vjl.1	-	11	2496	c.2149T>C	c.(2149-2151)TTT>CTT	p.F717L	TBC1D4_uc010aer.2_Missense_Mutation_p.F717L|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	717	Ser-rich.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCTGGTAAAAGCTTTTCAGG	0.443													G	75898422	A	G	75898422	3	3	162	1	0	0	0	0	1	0	0	0	15619	72	3	3	1791	3	TBC1D4	13	75898422	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	25396320	75898422	39271456	107	88960											
SLITRK5	26050	broad.mit.edu	37	chr13	88330374	88330374	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggggcaggggacagcaggCtacgggaaccggtgctctac	18	11	1	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr13:88330374C>A	uc001vln.2	+	2	2950	c.2731C>A	c.(2731-2733)CTA>ATA	p.L911I	SLITRK5_uc010tic.1_Missense_Mutation_p.L670I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	911	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCAGGCTACGGGAACC	0.562													A	88330374	C	A	88330374	3	1	162	1	0	0	0	0	1	0	0	0	14746	796	28	5	2733	5	SLITRK5	13	88330374	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	12431952	88330374	26839504	108	88961											
TXNDC16	57544	broad.mit.edu	37	chr14	52981665	52981665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagtcccatacacaaaagCggcttccatgactgctctgt	8	12	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr14:52981665C>T	uc001wzs.2	-	8	987	c.538G>A	c.(538-540)GCT>ACT	p.A180T	TXNDC16_uc010tqu.1_Missense_Mutation_p.A175T|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	180				A -> G (in Ref. 1; BAA92582).	cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TACACAAAAGCGGCTTCCATG	0.358													T	52981665	C	T	52981665	3	4	162	1	0	0	0	0	1	0	0	0	16792	768	27	1	1995	1	TXNDC16	14	52981665	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		52981665	54367875	109	88962											
AKAP5	9495	broad.mit.edu	37	chr14	64935787	64935787	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcattctgctattcaaacGggaactctaatccttgaaga	9	9	3	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr14:64935787G>C	uc001xhd.3	+	2	1053	c.675G>C	c.(673-675)ACG>ACC	p.T225T	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	225					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				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTATTCAAACGGGAACTCTAA	0.403													C	64935787	G	C	64935787	2	2	162	1	0	0	0	0	0	0	0	1	454	1103	39	5		5	AKAP5	14	64935787	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	11954122	64935787	42413753	110	88963											
ADCK1	57143	broad.mit.edu	37	chr14	78353526	78353526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgcatgatgggcggacGgtggccgtgaaggtccagca	18	9	0	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr14:78353526G>A	uc001xui.2	+	5	615	c.516G>A	c.(514-516)ACG>ACA	p.T172T	ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.2_Silent_p.T104T|ADCK1_uc001xuk.1_Silent_p.T46T	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	179	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGGGCGGACGGTGGCCGTGA	0.612													A	78353526	G	A	78353526	2	1	162	1	0	0	0	0	0	0	0	1	288	1103	39	1		1	ADCK1	14	78353526	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	13417739	78353526	28996014	111	88964											
MEIS2	4212	broad.mit.edu	37	chr15	37184392	37184392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactattgggcatgaatgtcCataacctgtccgccaacatt	7	11	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr15:37184392C>T	uc001zjr.2	-	12	2453	c.1416G>A	c.(1414-1416)ATG>ATA	p.M472I	MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Missense_Mutation_p.M452I|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Missense_Mutation_p.M465I|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Missense_Mutation_p.M465I|MEIS2_uc001zjj.2_Missense_Mutation_p.M168I|MEIS2_uc001zjk.2_Missense_Mutation_p.M161I	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	472					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			ovary(2)	2		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)		CATGAATGTCCATAACCTGTC	0.443													T	37184392	C	T	37184392	3	4	162	1	0	0	0	0	1	0	0	0	9468	594	21	4	21	4	MEIS2	15	37184392	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		37184392	65347000	112	88965											
ISL2	64843	broad.mit.edu	37	chr15	76632641	76632641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcgggccggcagcccgCgttgcgcccgcacgtgcaca	16	16	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr15:76632641C>T	uc002bbw.1	+	4	614	c.536C>T	c.(535-537)GCG>GTG	p.A179V		NM_145805	NP_665804	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGGCAGCCCGCGTTGCGCCCG	0.716													T	76632641	C	T	76632641	3	4	162	1	0	0	0	0	1	0	0	0	7857	768	27	1	550	1	ISL2	15	76632641	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	39448249	76632641	25898751	113	88966											
SGK269	79834	broad.mit.edu	37	chr15	77473300	77473300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccataagagaccacagaAttttcctcataaccattcag	5	11	2	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr15:77473300A>G	uc002bcm.2	-	3	1277	c.969T>C	c.(967-969)AAT>AAC	p.N323N	SGK269_uc002bcn.2_Silent_p.N323N	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	323					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		AGACCACAGAATTTTCCTCAT	0.433													G	77473300	A	G	77473300	2	3	162	1	0	0	0	0	0	0	0	1	14211	98	4	3		3	SGK269	15	77473300	Silent	SNP	A	TCGA-CG-4300-01A-01D-1158-08	840659	77473300	25058092	114	88967											
TPSG1	25823	broad.mit.edu	37	chr16	1272676	1272676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgcgtatagccccagcCggtcacccagcaccggatcc	9	20	1	0	rs137977482	byFrequency	TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:1272676C>T	uc002ckw.2	-	4	489	c.487G>A	c.(487-489)GGC>AGC	p.G163S		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein	163	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				TAGCCCCAGCCGGTCACCCAG	0.677													T	1272676	C	T	1272676	3	4	162	1	0	0	0	0	1	0	0	0	16423	652	23	1	490	1	TPSG1	16	1272676	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		1272676	89082077	115	88968											
TELO2	9894	broad.mit.edu	37	chr16	1549288	1549288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagaacaagaaggcccAgtttgtgatgacccagaagc	13	8	0	6			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:1549288A>C	uc002cly.2	+	6	1178	c.887A>C	c.(886-888)CAG>CCG	p.Q296P	TELO2_uc010uvg.1_Missense_Mutation_p.Q296P	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	296						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				AAGAAGGCCCAGTTTGTGATG	0.602													C	1549288	A	C	1549288	3	2	162	1	0	0	0	0	1	0	0	0	15754	188	7	5	905	5	TELO2	16	1549288	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	276612	1549288	88805465	116	88969											
USP7	7874	broad.mit.edu	37	chr16	9017167	9017167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcaccataatcttccaTggcagatttcgcacaaaaca	6	12	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:9017167T>C	uc002czl.2	-	3	487	c.288A>G	c.(286-288)CCA>CCG	p.P96P	USP7_uc010uyk.1_5'UTR|USP7_uc010uyj.1_5'UTR|USP7_uc002czk.2_Silent_p.P80P|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	96	Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.|Interaction with TSPYL5.				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			ovary(3)	3						TAATCTTCCATGGCAGATTTC	0.502													C	9017167	T	C	9017167	2	2	162	1	0	0	0	0	0	0	0	1	17085	1451	51	3		3	USP7	16	9017167	Silent	SNP	T	TCGA-CG-4300-01A-01D-1158-08	7467879	9017167	81337586	117	88970											
C16orf75	116028	broad.mit.edu	37	chr16	11444592	11444592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacctttctgataatcccaTccatgaaagtatgtgggaac	8	9	1	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:11444592T>C	uc002daw.1	+	2	407	c.389T>C	c.(388-390)ATC>ACC	p.I130T	C16orf75_uc002daq.1_RNA	NM_152308	NP_689521	Q96E14	RMI2_HUMAN	RecQ-mediated genome instability protein 2	130					DNA replication	nucleus	DNA binding				0						GATAATCCCATCCATGAAAGT	0.448			T	CIITA	PMBL|Hodgkin Lymphona|								C	11444592	T	C	11444592	3	2	162	1	0	0	0	0	1	0	0	0	1834	1435	50	3	395	3	C16orf75	16	11444592	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	2427425	11444592	78910161	118	88971											
ATXN2L	11273	broad.mit.edu	37	chr16	28837136	28837136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatggtaccacttatgagGgtatcttcaagacgctaagc	9	8	2	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:28837136G>A	uc002drc.2	+	4	607	c.439G>A	c.(439-441)GGT>AGT	p.G147S	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G147S|ATXN2L_uc002drb.2_Missense_Mutation_p.G147S|ATXN2L_uc002dqy.2_Missense_Mutation_p.G147S|ATXN2L_uc002dra.2_Missense_Mutation_p.G147S|ATXN2L_uc002dqz.2_Missense_Mutation_p.G147S|ATXN2L_uc010vdb.1_Missense_Mutation_p.G147S|ATXN2L_uc002dre.2_Missense_Mutation_p.G147S|ATXN2L_uc002drf.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	147						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CACTTATGAGGGTATCTTCAA	0.403													A	28837136	G	A	28837136	3	1	162	1	0	0	0	0	1	0	0	0	1212	1232	43	4	453	4	ATXN2L	16	28837136	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	17392544	28837136	61517617	119	88972											
ATXN2L	11273	broad.mit.edu	37	chr16	28844195	28844195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgagaaagtttgGggcccagtttaaggtgagag	16	4	0	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:28844195G>A	uc002drc.2	+	13	1814	c.1646G>A	c.(1645-1647)GGG>GAG	p.G549E	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G525E|ATXN2L_uc002drb.2_Missense_Mutation_p.G549E|ATXN2L_uc002dqy.2_Missense_Mutation_p.G549E|ATXN2L_uc002dra.2_Missense_Mutation_p.G549E|ATXN2L_uc002dqz.2_Missense_Mutation_p.G549E|ATXN2L_uc010vdb.1_Missense_Mutation_p.G555E|ATXN2L_uc002dre.2_Missense_Mutation_p.G549E|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	549						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						AGAAAGTTTGGGGCCCAGTTT	0.423													A	28844195	G	A	28844195	3	1	162	1	0	0	0	0	1	0	0	0	1212	1232	43	4	1696	4	ATXN2L	16	28844195	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	7059	28844195	61510558	120	88973											
PRR14	78994	broad.mit.edu	37	chr16	30666245	30666245	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcgaactcaggaccacaaTaccccagcacttctccctaa	6	16	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:30666245T>A	uc002dyy.2	+	8	1212	c.954T>A	c.(952-954)AAT>AAA	p.N318K	PRR14_uc002dyz.2_Missense_Mutation_p.N163K|PRR14_uc002dza.2_Missense_Mutation_p.N318K|PRR14_uc002dzb.1_Missense_Mutation_p.N132K	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	318	Pro-rich.										0			Colorectal(24;0.103)			AGGACCACAATACCCCAGCAC	0.662													A	30666245	T	A	30666245	3	1	162	1	0	0	0	0	1	0	0	0	12586	1403	49	5	980	5	PRR14	16	30666245	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	1822050	30666245	59688508	121	88974											
ADCY7	113	broad.mit.edu	37	chr16	50345962	50345962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagattgactattactgcCgcttggactgcctatggaag	11	9	0	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr16:50345962C>T	uc002egd.1	+	20	2732	c.2464C>T	c.(2464-2466)CGC>TGC	p.R822C		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	822	Cytoplasmic (Potential).				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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTATTACTGCCGCTTGGACTG	0.552													T	50345962	C	T	50345962	3	4	162	1	0	0	0	0	1	0	0	0	299	652	23	1	2542	1	ADCY7	16	50345962	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	19679717	50345962	40008791	122	88975											
TP53	7157	broad.mit.edu	37	chr17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgatggtgaggatgggCctccggttcatgccgcccat	15	10	1	3	rs28934571		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:7577534C>A	uc002gim.2	-	7	941	c.747G>T	c.(745-747)AGG>AGT	p.R249S	TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TGAGGATGGGCCTCCGGTTCA	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577534	C	A	7577534	3	1	162	1	0	0	0	0	1	0	0	0	16378	738	26	5	543	5	TP53	17	7577534	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		7577534	73617676	123	88976											
WDR16	146845	broad.mit.edu	37	chr17	9503482	9503482	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgacagatgttgggcctgcGaaggacaaattcagtttggt	13	7	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:9503482G>A	uc002gly.2	+	6	804	c.735G>A	c.(733-735)GCG>GCA	p.A245A	WDR16_uc002glz.2_Silent_p.A177A|WDR16_uc010coc.2_Silent_p.A255A	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	245						cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TTGGGCCTGCGAAGGACAAAT	0.423													A	9503482	G	A	9503482	2	1	162	1	0	0	0	0	0	0	0	1	17273	1045	37	1		1	WDR16	17	9503482	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	1925948	9503482	71691728	124	88977											
FAM83G	644815	broad.mit.edu	37	chr17	18907189	18907189	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccgagaggaagtctcGgatgttctcccgcttgagca	12	12	2	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:18907189G>A	uc002guw.2	-	2	333	c.166C>T	c.(166-168)CGA>TGA	p.R56*	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	56										ovary(1)|central_nervous_system(1)	2						AGGAAGTCTCGGATGTTCTCC	0.677													A	18907189	G	A	18907189	4	1	162	1	0	0	0	0	0	1	0	0	5639	1124	39	1	2325	1	FAM83G	17	18907189	Nonsense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	9403707	18907189	62288021	125	88978											
PHF12	57649	broad.mit.edu	37	chr17	27277196	27277198	+	In_Frame_Del	DEL	CTT	CTT	-													ctgccgcttctccggggctcCttctcaggcttccgactgcg							TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:27277195_27277197CCTT>C	uc002hdg.1	-	1	664_666	c.134_136AAGG>G	c.(133-138)aaggag>aGag	p.45_46KE>R	PHF12_uc010wbb.1_In_Frame_Del_p.27_28KE>R|PHF12_uc002hdi.1_In_Frame_Del_p.41_42KE>R|PHF12_uc002hdj.1_In_Frame_Del_p.45_46KE>R|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_In_Frame_Del_p.41_42KE>R	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	45					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)			CTCCGGGGCTCCTTCTCAGGCTT	0.616													-	27277198	CTT	-	27277196	7	5	162	1	0	1	0	1	0	0	0	0	11823	680	24	0	2961	0	PHF12	17	27277196	In_Frame_Del	DEL	CTT	TCGA-CG-4300-01A-01D-1158-08	8370007	27277196	53918014	126	88979											
LASP1	3927	broad.mit.edu	37	chr17	37075007	37075007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgacacggggatgctgccGgccaactacgtggaggccat	16	12	0	0	rs140055048		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:37075007G>A	uc002hra.2	+	7	1093	c.762G>A	c.(760-762)CCG>CCA	p.P254P	LASP1_uc010cvq.2_Missense_Mutation_p.R132Q|LASP1_uc010wdz.1_Silent_p.P198P	NM_006148	NP_006139	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	254	SH3.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			lung(1)	1						GGATGCTGCCGGCCAACTACG	0.642			T	MLL	AML								A	37075007	G	A	37075007	2	1	162	1	0	0	0	0	0	0	0	1	8637	1103	39	1		1	LASP1	17	37075007	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	9797811	37075007	44120203	127	88980											
MED1	5469	broad.mit.edu	37	chr17	37565409	37565409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttagaagaactatgagatGgagactttccctcagtgtct	10	7	2	4			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:37565409G>T	uc002hrv.3	-	17	3277	c.3065C>A	c.(3064-3066)CCA>CAA	p.P1022Q	MED1_uc010wee.1_Missense_Mutation_p.P850Q|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1022	Interaction with ESR1.				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			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		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)		ACTATGAGATGGAGACTTTCC	0.507										HNSCC(31;0.082)			T	37565409	G	T	37565409	3	4	162	1	0	0	0	0	1	0	0	0	9425	1348	47	5	1684	5	MED1	17	37565409	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	490402	37565409	43629801	128	88981											
KRTAP4-1	85285	broad.mit.edu	37	chr17	39340975	39340975	+	Nonsense_Mutation	SNP	G	G	T													tgagagcaggatgggcggcaGcagctggatacaacacagct							TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:39340975G>T	uc002hwe.3	-	1	173	c.132C>A	c.(130-132)TGC>TGA	p.C44*	KRTAP4-1_uc010cxm.1_RNA	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	44	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].|5.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ATGGGCGGCAGCAGCTGGATA	0.642													T	39340975	G	T	39340975	4	4	162	1	0	0	0	0	0	1	0	0	8548	963	34	5	259	5	KRTAP4-1	17	39340975	Nonsense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	1775566	39340975	41854235	129	88982	438	2									
KRTAP4-1	85285	broad.mit.edu	37	chr17	39340982	39340982	+	Missense_Mutation	SNP	G	G	T													aggatgggcggcagcagctgGatacaacacagctggggcag							TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:39340982G>T	uc002hwe.3	-	1	166	c.125C>A	c.(124-126)TCC>TAC	p.S42Y	KRTAP4-1_uc010cxm.1_RNA	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	42	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCAGCTGGATACAACACA	0.637													T	39340982	G	T	39340982	3	4	162	1	0	0	0	0	1	0	0	0	8548	1174	41	5	266	5	KRTAP4-1	17	39340982	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	7	39340982	41854228	130	88983	438	2									
KRT38	8687	broad.mit.edu	37	chr17	39597030	39597030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggttggcatgtgccacGttggccaaaaggcacatggg	14	10	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:39597030G>A	uc002hwq.1	-	1	567	c.144C>T	c.(142-144)AAC>AAT	p.N48N		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	48	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				CATGTGCCACGTTGGCCAAAA	0.632													A	39597030	G	A	39597030	2	1	162	1	0	0	0	0	0	0	0	1	8475	1136	40	1		1	KRT38	17	39597030	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	256048	39597030	41598180	131	88984											
KRT13	3860	broad.mit.edu	37	chr17	39659306	39659306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggtggcatccatctcCacgttgacctggccgaccac	11	16	1	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr17:39659306C>T	uc002hwu.1	-	4	843	c.780G>A	c.(778-780)GTG>GTA	p.V260V	KRT13_uc002hwv.1_Silent_p.V260V|KRT13_uc002hww.2_Silent_p.V153V|KRT13_uc010wfr.1_Silent_p.V153V|KRT13_uc010cxo.2_Silent_p.V260V|KRT13_uc002hwx.1_Silent_p.V248V	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	260	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				CATCCATCTCCACGTTGACCT	0.592													T	39659306	C	T	39659306	2	4	162	1	0	0	0	0	0	0	0	1	8450	581	21	4		4	KRT13	17	39659306	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	62276	39659306	41535904	132	88985											
C18orf8	29919	broad.mit.edu	37	chr18	21098916	21098916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccaacagcacaggagCggaggtggtcctctatcatc	11	13	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr18:21098916C>T	uc010xax.1	+	8	837	c.716C>T	c.(715-717)GCG>GTG	p.A239V	C18orf8_uc010xau.1_Missense_Mutation_p.A82V|C18orf8_uc010xav.1_Missense_Mutation_p.A191V|C18orf8_uc010xaw.1_Missense_Mutation_p.A82V|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	239										ovary(1)	1	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)					AGCACAGGAGCGGAGGTGGTC	0.438													T	21098916	C	T	21098916	3	4	162	1	0	0	0	0	1	0	0	0	1907	768	27	1	746	1	C18orf8	18	21098916	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		21098916	56978332	133	88986											
POLRMT	5442	broad.mit.edu	37	chr19	621655	621655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggtttccagcagctcCtggtgctgcgtggcgccttc	15	13	0	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:621655C>T	uc002lpf.1	-	10	2099	c.2043G>A	c.(2041-2043)CAG>CAA	p.Q681Q		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	681					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		CCAGCAGCTCCTGGTGCTGCG	0.697													T	621655	C	T	621655	2	4	162	1	0	0	0	0	0	0	0	1	12238	680	24	4		4	POLRMT	19	621655	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08		621655	58507328	134	88987											
CHAF1A	10036	broad.mit.edu	37	chr19	4433127	4433127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagcaaggtcatcatccGggagttccaggagcactgcc	14	12	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:4433127G>A	uc002mal.2	+	13	2364	c.2264G>A	c.(2263-2265)CGG>CAG	p.R755Q		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	755	Binds to p60.				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			ovary(1)|skin(1)	2		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)		GTCATCATCCGGGAGTTCCAG	0.682								Chromatin_Structure					A	4433127	G	A	4433127	3	1	162	1	0	0	0	0	1	0	0	0	3311	1116	39	1	2314	1	CHAF1A	19	4433127	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	3811472	4433127	54695856	135	88988											
KEAP1	9817	broad.mit.edu	37	chr19	10610425	10610425	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggccagcaccaccttgtgGgccatgaactgggcggccgg	16	13	0	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:10610425G>T	uc002moq.1	-	2	441	c.285C>A	c.(283-285)GCC>GCA	p.A95A	KEAP1_uc002mor.1_Silent_p.A95A	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	95	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCACCTTGTGGGCCATGAACT	0.612													T	10610425	G	T	10610425	2	4	162	1	0	0	0	0	0	0	0	1	8141	1219	43	5		5	KEAP1	19	10610425	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	6177298	10610425	48518558	136	88989											
C19orf39	126074	broad.mit.edu	37	chr19	11485533	11485533	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagggccaaggcccagtcctCttcctgacacgaaggcctct	11	15	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:11485533C>T	uc002mrg.1	+	1	151	c.114C>T	c.(112-114)CTC>CTT	p.L38L		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	hypothetical protein LOC126074	38											0						GCCCAGTCCTCTTCCTGACAC	0.632													T	11485533	C	T	11485533	2	4	162	1	0	0	0	0	0	0	0	1	1922	900	32	4		4	C19orf39	19	11485533	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08	875108	11485533	47643450	137	88990											
ELL	8178	broad.mit.edu	37	chr19	18555639	18555639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcttgctgtgcaggtActcgcagcggtgcttctcct	13	13	1	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:18555639A>G	uc002njh.2	-	12	1861	c.1789T>C	c.(1789-1791)TAC>CAC	p.Y597H	ELL_uc010ebq.2_Missense_Mutation_p.Y540H|ELL_uc002njg.2_Missense_Mutation_p.Y464H	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	597					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTGTGCAGGTACTCGCAGCGG	0.642			T	MLL	AL								G	18555639	A	G	18555639	3	3	162	1	0	0	0	0	1	0	0	0	5062	391	14	3	80	3	ELL	19	18555639	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	7070106	18555639	40573344	138	88991											
ZNF611	81856	broad.mit.edu	37	chr19	53209635	53209635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagatttttctctcatgtGtacttcctgtttttgtggga	9	6	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:53209635G>A	uc002pzz.2	-	7	990	c.673C>T	c.(673-675)CAC>TAC	p.H225Y	ZNF611_uc010eqc.2_Missense_Mutation_p.H155Y|ZNF611_uc010ydo.1_Missense_Mutation_p.H155Y|ZNF611_uc010ydr.1_Missense_Mutation_p.H156Y|ZNF611_uc010ydp.1_Missense_Mutation_p.H225Y|ZNF611_uc010ydq.1_Missense_Mutation_p.H225Y|ZNF611_uc002qaa.3_Missense_Mutation_p.H155Y	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCTCATGTGTACTTCCTGT	0.378													A	53209635	G	A	53209635	3	1	162	1	0	0	0	0	1	0	0	0	18034	1377	48	4	1448	4	ZNF611	19	53209635	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	34653996	53209635	5919348	139	88992											
ZNF761	388561	broad.mit.edu	37	chr19	53958797	53958797	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatccttacacgccatcatCgacttcatactggagagaaa	6	12	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:53958797C>T	uc010eqp.2	+	7	1494	c.1036C>T	c.(1036-1038)CGA>TGA	p.R346*	ZNF761_uc010ydy.1_Nonsense_Mutation_p.R292*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.R292*	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	346	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACGCCATCATCGACTTCATAC	0.403													T	53958797	C	T	53958797	4	4	162	1	0	0	0	0	0	1	0	0	18133	876	31	1	1047	1	ZNF761	19	53958797	Nonsense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	749162	53958797	5170186	140	88993											
LAIR2	3904	broad.mit.edu	37	chr19	55019214	55019214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggttcaaacattccgccTggagagggaggatagagcca	15	8	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:55019214T>G	uc002qgc.2	+	3	301	c.179T>G	c.(178-180)CTG>CGG	p.L60R	LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Missense_Mutation_p.L60R|LAIR2_uc010erl.2_Missense_Mutation_p.L60R	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like	60	Ig-like C2-type.					extracellular region	receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACATTCCGCCTGGAGAGGGAG	0.537													G	55019214	T	G	55019214	3	3	162	1	0	0	0	0	1	0	0	0	8603	1580	55	5	189	5	LAIR2	19	55019214	Missense_Mutation	SNP	T	TCGA-CG-4300-01A-01D-1158-08	1060417	55019214	4109769	141	88994											
ZIK1	284307	broad.mit.edu	37	chr19	58101605	58101605	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaagcatcacagtgcaaaGaaatccttgaagagggacat	10	8	1	4			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr19:58101605G>T	uc002qpg.2	+	4	523	c.426G>T	c.(424-426)AAG>AAT	p.K142N	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.K87N|ZIK1_uc002qpi.2_Missense_Mutation_p.K129N|ZIK1_uc002qpj.2_Missense_Mutation_p.K39N	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		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)		ACAGTGCAAAGAAATCCTTGA	0.458													T	58101605	G	T	58101605	3	4	162	1	0	0	0	0	1	0	0	0	17680	933	33	5	440	5	ZIK1	19	58101605	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	3082391	58101605	1027378	142	88995											
SNPH	9751	broad.mit.edu	37	chr20	1281207	1281207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcgtccccttgcaggCgctccatgaaatacacgctg	12	13	0	1	rs139099290		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr20:1281207C>T	uc002wes.2	+	5	396	c.160C>T	c.(160-162)CGC>TGC	p.R54C	SNPH_uc002wet.2_Missense_Mutation_p.R98C	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	54					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						CCCTTGCAGGCGCTCCATGAA	0.622													T	1281207	C	T	1281207	3	4	162	1	0	0	0	0	1	0	0	0	14850	782	27	1	170	1	SNPH	20	1281207	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		1281207	61744313	143	88996											
TMC2	117532	broad.mit.edu	37	chr20	2592836	2592836	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctccatcttctgttctaGcttgctaatgaagagacaat	6	11	3	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr20:2592836G>A	uc002wgf.1	+	13	1609	c.1594_splice	c.e13-1	p.L532_splice	TMC2_uc002wgg.1_Splice_Site_p.L516_splice|TMC2_uc010zpw.1_Splice_Site_p.L364_splice|TMC2_uc010zpx.1_Splice_Site_p.L363_splice	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2							integral to membrane				ovary(3)	3						TTCTGTTCTAGCTTGCTAATG	0.478													A	2592836	G	A	2592836	5	1	162	1	0	0	0	0	0	0	1	0	15982	985	34	2	1643	2	TMC2	20	2592836	Splice_Site	SNP	G	TCGA-CG-4300-01A-01D-1158-08	1311629	2592836	60432684	144	88997											
HCK	3055	broad.mit.edu	37	chr20	30686829	30686829	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaagttccccatcaagtgGacagctcctgaagccatcaa	8	14	2	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr20:30686829G>A	uc002wxh.2	+	12	1440	c.1269G>A	c.(1267-1269)TGG>TGA	p.W423*	HCK_uc010gdy.2_Nonsense_Mutation_p.W402*|HCK_uc002wxi.2_Nonsense_Mutation_p.W401*	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	423	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCATCAAGTGGACAGCTCCTG	0.577													A	30686829	G	A	30686829	4	1	162	1	0	0	0	0	0	1	0	0	6994	1183	41	4	1321	4	HCK	20	30686829	Nonsense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	28093993	30686829	32338691	145	88998											
RBL1	5933	broad.mit.edu	37	chr20	35690621	35690621	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcccaaaaagatcctctcatCaaaatcaccaacagttagaa	3	12	3	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr20:35690621C>G	uc002xgi.2	-	8	1028	c.949G>C	c.(949-951)GAT>CAT	p.D317H	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.D317H|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	317					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ATCCTCTCATCAAAATCACCA	0.403													G	35690621	C	G	35690621	3	3	162	1	0	0	0	0	1	0	0	0	13109	826	29	5	2326	5	RBL1	20	35690621	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08	5003792	35690621	27334899	146	88999											
CHD6	84181	broad.mit.edu	37	chr20	40045389	40045389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggccacttcccctttaAcaccacgtggcagatattat	8	12	0	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr20:40045389A>C	uc002xka.1	-	33	6503	c.6325T>G	c.(6325-6327)TTA>GTA	p.L2109V	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2109					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTCCCCTTTAACACCACGTGG	0.488													C	40045389	A	C	40045389	3	2	162	1	0	0	0	0	1	0	0	0	3329	40	2	5	1842	5	CHD6	20	40045389	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	4354768	40045389	22980131	147	89000											
KCNQ2	3785	broad.mit.edu	37	chr20	62038567	62038567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatcttgacaatgcagccGtgcctgtcgacatgctcccg	10	14	1	1	rs150982653		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr20:62038567G>A	uc002yey.1	-	17	2226	c.2049C>T	c.(2047-2049)CAC>CAT	p.H683H	KCNQ2_uc002yez.1_Silent_p.H652H|KCNQ2_uc002yfa.1_Silent_p.H665H|KCNQ2_uc002yfb.1_Silent_p.H655H	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	683	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CAATGCAGCCGTGCCTGTCGA	0.582													A	62038567	G	A	62038567	2	1	162	1	0	0	0	0	0	0	0	1	8083	1136	40	1		1	KCNQ2	20	62038567	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	21993178	62038567	986953	148	89001											
PRPF6	24148	broad.mit.edu	37	chr20	62641640	62641640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctagaatcatgctgagccGagctgtggagtgctgcccca	13	11	1	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr20:62641640G>A	uc002yho.2	+	10	1442	c.1274G>A	c.(1273-1275)CGA>CAA	p.R425Q	PRPF6_uc002yhp.2_Missense_Mutation_p.R425Q	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	425	HAT 2.				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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGCTGAGCCGAGCTGTGGAG	0.592													A	62641640	G	A	62641640	3	1	162	1	0	0	0	0	1	0	0	0	12574	1058	37	1	1312	1	PRPF6	20	62641640	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	603073	62641640	383880	149	89002											
RBM11	54033	broad.mit.edu	37	chr21	15599341	15599341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcatataaatggactcaCcaacaaccaagtgactctga	6	11	3	2			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr21:15599341C>A	uc002yjo.3	+	5	615	c.573C>A	c.(571-573)CAC>CAA	p.H191Q	RBM11_uc002yjn.3_Missense_Mutation_p.H77Q|RBM11_uc002yjp.3_Missense_Mutation_p.H77Q	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	191							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AATGGACTCACCAACAACCAA	0.458													A	15599341	C	A	15599341	3	1	162	1	0	0	0	0	1	0	0	0	13112	506	18	5	591	5	RBM11	21	15599341	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		15599341	32530554	150	89003											
PRDM15	63977	broad.mit.edu	37	chr21	43277345	43277345	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctggactcaaagggaccGaactgtgtccgcttgacgag	12	12	1	1	rs112850683		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr21:43277345G>A	uc002yzq.1	-	11	1434	c.1323C>T	c.(1321-1323)TTC>TTT	p.F441F	PRDM15_uc002yzo.2_Silent_p.F112F|PRDM15_uc002yzp.2_Silent_p.F112F|PRDM15_uc002yzr.1_Silent_p.F112F	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	441	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAAAGGGACCGAACTGTGTCC	0.552													A	43277345	G	A	43277345	2	1	162	1	0	0	0	0	0	0	0	1	12456	1049	37	1		1	PRDM15	21	43277345	Silent	SNP	G	TCGA-CG-4300-01A-01D-1158-08	27678004	43277345	4852550	151	89004											
ATP6V1E1	529	broad.mit.edu	37	chr22	18082836	18082836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgcaacgaacaatcattCggggctccagcaactggtac	9	13	1	0	rs144829775	by1000genomes	TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr22:18082836C>T	uc002zmr.1	-	6	579	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	ATP6V1E1_uc002zms.1_Missense_Mutation_p.R101Q|ATP6V1E1_uc002zmt.1_Missense_Mutation_p.R109Q	NM_001696	NP_001687	P36543	VATE1_HUMAN	vacuolar H+ ATPase E1 isoform a	131					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			large_intestine(1)|central_nervous_system(1)	2		all_epithelial(15;0.206)		Lung(27;0.19)		AACAATCATTCGGGGCTCCAG	0.269													T	18082836	C	T	18082836	3	4	162	1	0	0	0	0	1	0	0	0	1183	884	31	1	304	1	ATP6V1E1	22	18082836	Missense_Mutation	SNP	C	TCGA-CG-4300-01A-01D-1158-08		18082836	33221730	152	89005											
H1F0	3005	broad.mit.edu	37	chr22	38201900	38201900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagaaggaaatcaagaagGtagccacgccaaagaaggca	11	9	1	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr22:38201900G>T	uc003aty.2	+	1	787	c.349G>T	c.(349-351)GTA>TTA	p.V117L	GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank	NM_005318	NP_005309	P07305	H10_HUMAN	H1 histone family, member 0	117					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding				0	Melanoma(58;0.045)					AATCAAGAAGGTAGCCACGCC	0.567													T	38201900	G	T	38201900	3	4	162	1	0	0	0	0	1	0	0	0	6920	1261	44	5	351	5	H1F0	22	38201900	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	20119064	38201900	13102666	153	89006											
RPL3	6122	broad.mit.edu	37	chr22	39714449	39714449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgatgtgagtcatgccaGccttgtatcccaggaaggct	12	11	1	1	rs11547980		TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr22:39714449G>A	uc003axi.2	-	2	220	c.152C>T	c.(151-153)GCT>GTT	p.A51V	RPL3_uc003axh.2_Missense_Mutation_p.A51V|RPL3_uc003axj.2_5'UTR|RPL3_uc011aoj.1_Missense_Mutation_p.A51V|RPL3_uc010gxx.2_5'UTR|RPL3_uc003axg.2_5'UTR|RPL3_uc003axk.1_5'UTR	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	51					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(1)	2	Melanoma(58;0.04)					AGTCATGCCAGCCTTGTATCC	0.577													A	39714449	G	A	39714449	3	1	162	1	0	0	0	0	1	0	0	0	13579	971	34	2	1095	2	RPL3	22	39714449	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	1512549	39714449	11590117	154	89007											
SBF1	6305	broad.mit.edu	37	chr22	50904409	50904409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctcagcacactgtgcGtctgactctgcagtggctct	10	14	4	1			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chr22:50904409G>A	uc003blh.2	-	9	1187	c.992C>T	c.(991-993)ACG>ATG	p.T331M	SBF1_uc011arx.1_Translation_Start_Site|SBF1_uc003bli.2_Missense_Mutation_p.T332M	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	331					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		CACACTGTGCGTCTGACTCTG	0.617													A	50904409	G	A	50904409	3	1	162	1	0	0	0	0	1	0	0	0	13858	1145	40	1	4821	1	SBF1	22	50904409	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	11189960	50904409	400157	155	89008											
ASMT	438	broad.mit.edu	37	chrX	1748789	1748789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgggagaagcgtgctgacCgcctttgacctgtcagtgtt	13	10	1	3			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chrX:1748789C>T	uc004cqd.2	+	6	664	c.519C>T	c.(517-519)ACC>ACT	p.T173T	ASMT_uc010ncy.2_Silent_p.T173T|ASMT_uc004cqe.2_Silent_p.T173T	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	173					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		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)				GCGTGCTGACCGCCTTTGACC	0.557													T	1748789	C	T	1748789	2	4	162	1	0	0	0	0	0	0	0	1	1045	639	23	1		1	ASMT	23	1748789	Silent	SNP	C	TCGA-CG-4300-01A-01D-1158-08		1748789	153521771	156	89009											
CD40LG	959	broad.mit.edu	37	chrX	135730447	135730447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttctccccgatctgcgGccactggactgcccatcagc	8	17	3	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chrX:135730447G>A	uc004faa.2	+	1	112	c.40G>A	c.(40-42)GCC>ACC	p.A14T	CD40LG_uc010nsd.2_Missense_Mutation_p.A14T|CD40LG_uc010nse.1_5'Flank	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	14	Cytoplasmic (Potential).				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			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CCGATCTGCGGCCACTGGACT	0.428									Immune_Deficiency_with_Hyper-IgM				A	135730447	G	A	135730447	3	1	162	1	0	0	0	0	1	0	0	0	3016	1203	42	2	42	2	CD40LG	23	135730447	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	133981658	135730447	19540113	157	89010											
ARHGEF6	9459	broad.mit.edu	37	chrX	135770113	135770113	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagttttgaatgctacgAttgctttcagaatatcctga	9	6	1	4			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chrX:135770113A>C	uc004fab.2	-	11	1685	c.1223T>G	c.(1222-1224)ATC>AGC	p.I408S	ARHGEF6_uc011mwd.1_Missense_Mutation_p.I281S|ARHGEF6_uc011mwe.1_Missense_Mutation_p.I254S	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	408	DH.				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				0	Acute lymphoblastic leukemia(192;0.000127)					GAATGCTACGATTGCTTTCAG	0.259													C	135770113	A	C	135770113	3	2	162	1	0	0	0	0	1	0	0	0	910	333	12	5	1155	5	ARHGEF6	23	135770113	Missense_Mutation	SNP	A	TCGA-CG-4300-01A-01D-1158-08	39666	135770113	19500447	158	89011											
MAGEA4	4103	broad.mit.edu	37	chrX	151092504	151092504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggctcattttctgctccGcaagtatcgagccaaggagc	11	11	2	0			TCGA-CG-4300-01A-01D-1158-08	TCGA-CG-4300-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8dfc292-64ca-4ad1-a80f-501cfe1087bf	01d85075-d33d-4289-bd05-a1f44d07bf3a	g.chrX:151092504G>A	uc004fez.2	+	3	524	c.368G>A	c.(367-369)CGC>CAC	p.R123H	MAGEA4_uc004ffa.2_Missense_Mutation_p.R123H|MAGEA4_uc004ffb.2_Missense_Mutation_p.R123H|MAGEA4_uc004ffc.2_Missense_Mutation_p.R123H|MAGEA4_uc004ffd.2_Missense_Mutation_p.R123H	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	123	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTGCTCCGCAAGTATCGA	0.522													A	151092504	G	A	151092504	3	1	162	1	0	0	0	0	1	0	0	0	9168	1087	38	1	370	1	MAGEA4	23	151092504	Missense_Mutation	SNP	G	TCGA-CG-4300-01A-01D-1158-08	15322391	151092504	4178056	159	89012											
SNIP1	79753	broad.mit.edu	37	chr1	38003386	38003386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcctcctcctcatccTcgtcatctttcctgtctatt	2	18	4	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr1:38003386T>A	uc001cbi.2	-	4	1227	c.1154A>T	c.(1153-1155)GAG>GTG	p.E385V	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	385	Poly-Glu.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				CTCCTCATCCTCGTCATCTTT	0.423													A	38003386	T	A	38003386	3	1	163	1	0	0	0	0	1	0	0	0	14848	1551	54	5	40	5	SNIP1	1	38003386	Missense_Mutation	SNP	T	TCGA-CG-4301-01A-01D-1158-08		38003386	211247235	1	89013											
FCRL3	115352	broad.mit.edu	37	chr1	157665941	157665941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagaacatgcagctctgCcaacagggaacgctgggtct	14	10	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr1:157665941C>T	uc001frb.2	-	7	1313	c.1021G>A	c.(1021-1023)GCA>ACA	p.A341T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.A341T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.A67T|FCRL3_uc001frc.1_Missense_Mutation_p.A341T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	341	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGCAGCTCTGCCAACAGGGAA	0.522													T	157665941	C	T	157665941	3	4	163	1	0	0	0	0	1	0	0	0	5796	739	26	2	1219	2	FCRL3	1	157665941	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	119662555	157665941	91584680	2	89014											
RABGAP1L	9910	broad.mit.edu	37	chr1	174926639	174926639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagaaagaatatcagacaAtgcgagagagtcagctgcaa	11	6	2	4			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr1:174926639A>G	uc001gjx.2	+	20	2581	c.2386A>G	c.(2386-2388)ATG>GTG	p.M796V	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_Missense_Mutation_p.M103V|RABGAP1L_uc001gkd.3_Missense_Mutation_p.M122V|RABGAP1L_uc001gke.3_Missense_Mutation_p.M115V|RABGAP1L_uc001gkf.2_Missense_Mutation_p.M53V|RABGAP1L_uc001gkg.2_Missense_Mutation_p.M53V|RABGAP1L_uc001gkh.3_Missense_Mutation_p.M53V	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	796					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						ATATCAGACAATGCGAGAGAG	0.353													G	174926639	A	G	174926639	3	3	163	1	0	0	0	0	1	0	0	0	12965	101	4	3	2575	3	RABGAP1L	1	174926639	Missense_Mutation	SNP	A	TCGA-CG-4301-01A-01D-1158-08	17260698	174926639	74323982	3	89015											
SMYD3	64754	broad.mit.edu	37	chr1	245927347	245927347	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcttggcacactcaccagtCtcagattcttcattgcttgg	7	12	5	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr1:245927347C>G	uc001ibl.2	-	11	1276	c.1181G>C	c.(1180-1182)AGA>ACA	p.R394T	SMYD3_uc001ibk.2_Missense_Mutation_p.R335T|SMYD3_uc001ibi.2_Missense_Mutation_p.E206D|SMYD3_uc001ibj.2_Missense_Mutation_p.R205T	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	394						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ACTCACCAGTCTCAGATTCTT	0.468													G	245927347	C	G	245927347	3	3	163	1	0	0	0	0	1	0	0	0	14823	913	32	5	113	5	SMYD3	1	245927347	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	71000708	245927347	3323274	4	89016											
TRIB2	28951	broad.mit.edu	37	chr2	12858617	12858617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcattgcgtttcttgtatcGggaaatacttattgttggaa	10	6	1	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr2:12858617G>A	uc002rbv.3	+	1	1620	c.184G>A	c.(184-186)GGG>AGG	p.G62R	TRIB2_uc010yjp.1_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	62	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			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTTGTATCGGGAAATACTT	0.577											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	12858617	G	A	12858617	3	1	163	1	0	0	0	0	1	0	0	0	16480	1116	39	1	186	1	TRIB2	2	12858617	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		12858617	230340756	5	89017											
ZNF513	130557	broad.mit.edu	37	chr2	27601052	27601052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatggcagctcccagccgaCtaccctcaccctcctccagc	6	21	1	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr2:27601052C>A	uc002rkk.2	-	4	1186	c.986G>T	c.(985-987)AGT>ATT	p.S329I	ZNF513_uc002rkj.2_Missense_Mutation_p.S267I	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	329					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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCAGCCGACTACCCTCACC	0.667													A	27601052	C	A	27601052	3	1	163	1	0	0	0	0	1	0	0	0	17955	565	20	5	643	5	ZNF513	2	27601052	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	14742435	27601052	215598321	6	89018											
LRP2	4036	broad.mit.edu	37	chr2	170028593	170028593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccaacgaagagggatgCagtggtgatttttacagcgg	14	7	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr2:170028593C>T	uc002ues.2	-	58	11408	c.11195G>A	c.(11194-11196)TGC>TAC	p.C3732Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3732	LDL-receptor class A 31.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	AAGAGGGATGCAGTGGTGATT	0.458													T	170028593	C	T	170028593	3	4	163	1	0	0	0	0	1	0	0	0	8956	710	25	2	2860	2	LRP2	2	170028593	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	142427541	170028593	73170780	7	89019											
SP3	6670	broad.mit.edu	37	chr2	174820642	174820642	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatctgaatttgactgctttCttgatttatacccccattat	5	9	2	3			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr2:174820642C>A	uc002uig.2	-	4	762	c.598G>T	c.(598-600)GAA>TAA	p.E200*	SP3_uc002uie.2_Nonsense_Mutation_p.E132*|SP3_uc002uif.2_Nonsense_Mutation_p.E147*|SP3_uc010zel.1_Nonsense_Mutation_p.E197*	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	200	Transactivation domain (Gln-rich).				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)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGACTGCTTTCTTGATTTATA	0.428													A	174820642	C	A	174820642	4	1	163	1	0	0	0	0	0	1	0	0	14965	922	32	5	1763	5	SP3	2	174820642	Nonsense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	4792049	174820642	68378731	8	89020											
GOLGA4	2803	broad.mit.edu	37	chr3	37370460	37370460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttatttattagataaggCccaggaggtggaggctgaac	12	5	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr3:37370460C>G	uc003cgv.2	+	16	6372	c.6068C>G	c.(6067-6069)GCC>GGC	p.A2023G	GOLGA4_uc003cgw.2_Missense_Mutation_p.A2045G|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.A1904G	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	2023	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TTAGATAAGGCCCAGGAGGTG	0.328													G	37370460	C	G	37370460	3	3	163	1	0	0	0	0	1	0	0	0	6555	739	26	5	6200	5	GOLGA4	3	37370460	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08		37370460	160651970	9	89021											
MYLK	4638	broad.mit.edu	37	chr3	123366073	123366073	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcagtgggccactcacatCtccaggaccatgacgatgtt	11	12	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr3:123366073C>T	uc003ego.2	-	27	4899	c.4617G>A	c.(4615-4617)GAG>GAA	p.E1539E	MYLK_uc010hrr.2_Intron|MYLK_uc011bjv.1_Silent_p.E339E|MYLK_uc011bjw.1_Silent_p.E1539E|MYLK_uc003egp.2_Silent_p.E1470E|MYLK_uc003egq.2_Silent_p.E1539E|MYLK_uc003egr.2_Silent_p.E1470E|MYLK_uc003egs.2_Silent_p.E1363E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1539	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCACTCACATCTCCAGGACCA	0.587													T	123366073	C	T	123366073	2	4	163	1	0	0	0	0	0	0	0	1	10056	912	32	4		4	MYLK	3	123366073	Silent	SNP	C	TCGA-CG-4301-01A-01D-1158-08	85995613	123366073	74656357	10	89022											
TERT	7015	broad.mit.edu	37	chr5	1272312	1272312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagacctgctcgatgacGacggcatccctcagcgggct	12	16	1	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr5:1272312G>A	uc003jcb.1	-	7	2428	c.2370C>T	c.(2368-2370)GTC>GTT	p.V790V	TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Silent_p.V778V|TERT_uc003jcc.1_Silent_p.V790V|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	790	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			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	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)			GCTCGATGACGACGGCATCCC	0.642									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				A	1272312	G	A	1272312	2	1	163	1	0	0	0	0	0	0	0	1	15761	1045	37	1		1	TERT	5	1272312	Silent	SNP	G	TCGA-CG-4301-01A-01D-1158-08		1272312	179642948	11	89023											
JMY	133746	broad.mit.edu	37	chr5	78595999	78595999	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagtttgcggggtggtacAgaagcgatagcacgattgga	16	6	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr5:78595999A>G	uc003kfx.3	+	5	2071	c.1551A>G	c.(1549-1551)ACA>ACG	p.T517T	JMY_uc003kfw.1_Silent_p.T163T	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	517	Interaction with p300/EP300 (By similarity).|Potential.				'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				0		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)		GGGGTGGTACAGAAGCGATAG	0.348													G	78595999	A	G	78595999	2	3	163	1	0	0	0	0	0	0	0	1	7957	175	7	3		3	JMY	5	78595999	Silent	SNP	A	TCGA-CG-4301-01A-01D-1158-08	77323687	78595999	102319261	12	89024											
RASA1	5921	broad.mit.edu	37	chr5	86670727	86670727	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagaaaagcaaagatcctGatatctgtaagttgatacag	8	6	1	4			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr5:86670727G>A	uc003kiw.2	+	15	2123	c.2005G>A	c.(2005-2007)GAT>AAT	p.D669N	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.D492N|RASA1_uc011ctv.1_Missense_Mutation_p.D502N|RASA1_uc011ctw.1_Missense_Mutation_p.D503N|RASA1_uc010jaw.2_Missense_Mutation_p.D491N	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	669	C2.				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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		CAAAGATCCTGATATCTGTAA	0.259													A	86670727	G	A	86670727	3	1	163	1	0	0	0	0	1	0	0	0	13060	1290	45	4	2075	4	RASA1	5	86670727	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	8074728	86670727	94244533	13	89025											
P4HA2	8974	broad.mit.edu	37	chr5	131539839	131539839	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcacgaacggtggctcGtgcaagctagaaggaaggag	17	7	1	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr5:131539839G>A	uc003kwh.2	-	9	1651	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*	P4HA2_uc003kwg.2_Nonsense_Mutation_p.R363*|P4HA2_uc003kwi.2_Nonsense_Mutation_p.R363*|P4HA2_uc003kwk.2_Nonsense_Mutation_p.R363*|P4HA2_uc003kwl.2_Nonsense_Mutation_p.R363*|P4HA2_uc003kwj.2_Nonsense_Mutation_p.R363*	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	363						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				0		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)	ACGGTGGCTCGTGCAAGCTAG	0.502													A	131539839	G	A	131539839	4	1	163	1	0	0	0	0	0	1	0	0	11357	1153	40	1	612	1	P4HA2	5	131539839	Nonsense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	44869112	131539839	49375421	14	89026											
SCUBE3	222663	broad.mit.edu	37	chr6	35209384	35209384	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctgcaaccggtctggCaagaaggacacctgtgccct	11	14	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr6:35209384C>A	uc003okf.1	+	11	1266	c.1260C>A	c.(1258-1260)GGC>GGA	p.G420G	SCUBE3_uc003okg.1_Silent_p.G419G|SCUBE3_uc003okh.1_Silent_p.G307G	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	420					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						ACCGGTCTGGCAAGAAGGACA	0.582											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35209384	C	A	35209384	2	1	163	1	0	0	0	0	0	0	0	1	13946	697	25	5		5	SCUBE3	6	35209384	Silent	SNP	C	TCGA-CG-4301-01A-01D-1158-08		35209384	135905683	15	89027											
ARMC2	84071	broad.mit.edu	37	chr6	109286202	109286202	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttagtggactgtttaagaGatttgggtcctactgattgg	14	4	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr6:109286202G>T	uc003pss.3	+	17	2479	c.2305G>T	c.(2305-2307)GAT>TAT	p.D769Y	ARMC2_uc011eao.1_Missense_Mutation_p.D604Y	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	769	ARM 12.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTGTTTAAGAGATTTGGGTCC	0.333													T	109286202	G	T	109286202	3	4	163	1	0	0	0	0	1	0	0	0	951	942	33	5	2367	5	ARMC2	6	109286202	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	74076818	109286202	61828865	16	89028											
LANCL2	55915	broad.mit.edu	37	chr7	55466150	55466150	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacctgcagttgtaccgggtCacatgtgaccaaacctacct	8	13	1	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr7:55466150C>G	uc003tqp.2	+	3	935	c.357C>G	c.(355-357)GTC>GTG	p.V119V		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	119					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			ovary(1)|skin(1)	2	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)			TGTACCGGGTCACATGTGACC	0.458													G	55466150	C	G	55466150	2	3	163	1	0	0	0	0	0	0	0	1	8621	813	29	5		5	LANCL2	7	55466150	Silent	SNP	C	TCGA-CG-4301-01A-01D-1158-08		55466150	103672513	17	89029											
HIP1	3092	broad.mit.edu	37	chr7	75186058	75186058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagaacctgaagctcccGttggcttgtggcaagttcct	11	11	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr7:75186058G>A	uc003uds.1	-	17	1680	c.1639C>T	c.(1639-1641)CGG>TGG	p.R547W	HIP1_uc011kfz.1_Missense_Mutation_p.R424W	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	547	Potential.				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			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TGAAGCTCCCGTTGGCTTGTG	0.353			T	PDGFRB	CMML								A	75186058	G	A	75186058	3	1	163	1	0	0	0	0	1	0	0	0	7114	1144	40	1	1534	1	HIP1	7	75186058	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	19719908	75186058	83952605	18	89030											
ZNF804B	219578	broad.mit.edu	37	chr7	88964359	88964359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagcatgaccagcaaggTttccggatgtggaaaccaaa	10	10	1	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr7:88964359T>C	uc011khi.1	+	4	2601	c.2063T>C	c.(2062-2064)GTT>GCT	p.V688A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	688						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCAGCAAGGTTTCCGGATGT	0.453										HNSCC(36;0.09)			C	88964359	T	C	88964359	3	2	163	1	0	0	0	0	1	0	0	0	18168	1725	60	3	2077	3	ZNF804B	7	88964359	Missense_Mutation	SNP	T	TCGA-CG-4301-01A-01D-1158-08	13778301	88964359	70174304	19	89031											
KIAA1429	25962	broad.mit.edu	37	chr8	95524295	95524295	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaggccaactccttctGgggtcatcaagttatcgata	10	9	3	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr8:95524295G>C	uc003ygo.1	-	12	2787	c.2774C>G	c.(2773-2775)CCA>CGA	p.P925R	KIAA1429_uc003ygp.2_Missense_Mutation_p.P925R|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	925					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACTCCTTCTGGGGTCATCAA	0.378													C	95524295	G	C	95524295	3	2	163	1	0	0	0	0	1	0	0	0	8231	1348	47	5	2770	5	KIAA1429	8	95524295	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		95524295	50839727	20	89032											
LY6K	54742	broad.mit.edu	37	chr8	143784759	143784759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcctcctgctgctggcCtccattgcagccggcctcag	10	18	1	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr8:143784759C>T	uc011ljv.1	+	3	885	c.468C>T	c.(466-468)GCC>GCT	p.A156A	LY6K_uc011ljw.1_3'UTR|LY6K_uc011ljx.1_3'UTR	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K isoform 1	156						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				central_nervous_system(1)	1	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)					TGCTGCTGGCCTCCATTGCAG	0.592													T	143784759	C	T	143784759	2	4	163	1	0	0	0	0	0	0	0	1	9098	668	24	4		4	LY6K	8	143784759	Silent	SNP	C	TCGA-CG-4301-01A-01D-1158-08	48260464	143784759	2579263	21	89033											
KIAA1045	23349	broad.mit.edu	37	chr9	34976209	34976209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcacggagacctttcagCggtgtaaagtcatccctggt	11	12	3	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr9:34976209C>T	uc003zvq.2	+	4	803	c.625C>T	c.(625-627)CGG>TGG	p.R209W	KIAA1045_uc003zvr.2_Missense_Mutation_p.R209W	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	209							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			GACCTTTCAGCGGTGTAAAGT	0.507													T	34976209	C	T	34976209	3	4	163	1	0	0	0	0	1	0	0	0	8207	759	27	1	635	1	KIAA1045	9	34976209	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08		34976209	106237222	22	89034											
DFNB31	25861	broad.mit.edu	37	chr9	117240980	117240980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggtgtagatgtggttGgtgacgtagcccccagggat	15	9	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr9:117240980G>A	uc004biz.3	-	2	1339	c.690C>T	c.(688-690)ACC>ACT	p.T230T	DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Silent_p.T230T|DFNB31_uc004bjb.2_Silent_p.T230T	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	230					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						AGATGTGGTTGGTGACGTAGC	0.647													A	117240980	G	A	117240980	2	1	163	1	0	0	0	0	0	0	0	1	4455	1335	47	4		4	DFNB31	9	117240980	Silent	SNP	G	TCGA-CG-4301-01A-01D-1158-08	82264771	117240980	23972451	23	89035											
FAM166A	401565	broad.mit.edu	37	chr9	140140109	140140109	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actggtgtagtgggggatgtAgggctccgtcaggtcttggc	18	7	2	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr9:140140109A>T	uc004cmi.1	-	2	308	c.253T>A	c.(253-255)TAC>AAC	p.Y85N		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	85										ovary(1)	1						TGGGGGATGTAGGGCTCCGTC	0.642													T	140140109	A	T	140140109	3	4	163	1	0	0	0	0	1	0	0	0	5481	420	15	5	724	5	FAM166A	9	140140109	Missense_Mutation	SNP	A	TCGA-CG-4301-01A-01D-1158-08	22899129	140140109	1073322	24	89036											
CUBN	8029	broad.mit.edu	37	chr10	17152954	17152954	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgggaagacccaggtgTattcacacactcaacgggtg	13	10	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr10:17152954T>A	uc001ioo.2	-	9	1031	c.979A>T	c.(979-981)ACA>TCA	p.T327S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	327	EGF-like 4; calcium-binding (Potential).				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACCCAGGTGTATTCACACAC	0.522													A	17152954	T	A	17152954	3	1	163	1	0	0	0	0	1	0	0	0	4051	1638	57	5	10128	5	CUBN	10	17152954	Missense_Mutation	SNP	T	TCGA-CG-4301-01A-01D-1158-08		17152954	118381793	25	89037											
GDF10	2662	broad.mit.edu	37	chr10	48438519	48438519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggggcccaacgtggcGgccgcgtccccagggtgccg	18	16	0	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr10:48438519G>A	uc001jfb.2	-	1	648	c.192C>T	c.(190-192)GCC>GCT	p.A64A	GDF10_uc009xnp.2_Silent_p.A64A|GDF10_uc009xnq.1_Silent_p.A64A	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	64					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						CCAACGTGGCGGCCGCGTCCC	0.746													A	48438519	G	A	48438519	2	1	163	1	0	0	0	0	0	0	0	1	6311	1103	39	1		1	GDF10	10	48438519	Silent	SNP	G	TCGA-CG-4301-01A-01D-1158-08	31285565	48438519	87096228	26	89038											
A1CF	29974	broad.mit.edu	37	chr10	52596017	52596017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggtttttgggatgccccCaacaaataatcggcagttgt	10	8	0	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr10:52596017C>A	uc001jjj.2	-	6	609	c.421G>T	c.(421-423)GGG>TGG	p.G141W	A1CF_uc010qhn.1_Missense_Mutation_p.G149W|A1CF_uc001jji.2_Missense_Mutation_p.G141W|A1CF_uc001jjh.2_Missense_Mutation_p.G149W|A1CF_uc010qho.1_Missense_Mutation_p.G149W|A1CF_uc009xov.2_Missense_Mutation_p.G141W	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	141	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			central_nervous_system(1)	1						GGGATGCCCCCAACAAATAAT	0.453													A	52596017	C	A	52596017	3	1	163	1	0	0	0	0	1	0	0	0	2	594	21	5	1395	5	A1CF	10	52596017	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	4157498	52596017	82938730	27	89039											
ALDH3B2	222	broad.mit.edu	37	chr11	67431918	67431918	+	Silent	SNP	G	G	A													aggggcttctcctgccggttGatgaacttgatggcctcgtc							TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr11:67431918G>A	uc001omr.2	-	8	1261	c.822C>T	c.(820-822)ATC>ATT	p.I274I	ALDH3B2_uc001oms.2_Silent_p.I274I|ALDH3B2_uc009ysa.1_Silent_p.I274I	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	274					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	CCTGCCGGTTGATGAACTTGA	0.642													A	67431918	G	A	67431918	2	1	163	1	0	0	0	0	0	0	0	1	500	1280	45	4		4	ALDH3B2	11	67431918	Silent	SNP	G	TCGA-CG-4301-01A-01D-1158-08		67431918	67574598	28	89040	439	2									
ALDH3B2	222	broad.mit.edu	37	chr11	67431927	67431927	+	Missense_Mutation	SNP	G	G	C													tcctgccggttgatgaacttGatggcctcgtccacgctctg							TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr11:67431927G>C	uc001omr.2	-	8	1252	c.813C>G	c.(811-813)ATC>ATG	p.I271M	ALDH3B2_uc001oms.2_Missense_Mutation_p.I271M|ALDH3B2_uc009ysa.1_Missense_Mutation_p.I271M	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	271					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	TGATGAACTTGATGGCCTCGT	0.647													C	67431927	G	C	67431927	3	2	163	1	0	0	0	0	1	0	0	0	500	1280	45	5	356	5	ALDH3B2	11	67431927	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	9	67431927	67574589	29	89041	439	2									
ALDH3B2	222	broad.mit.edu	37	chr11	67431978	67431978	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgggcaggatgggcccgaaGatctcctcctgcatcacagg	13	12	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr11:67431978G>C	uc001omr.2	-	8	1201	c.762C>G	c.(760-762)ATC>ATG	p.I254M	ALDH3B2_uc001oms.2_Missense_Mutation_p.I254M|ALDH3B2_uc009ysa.1_Missense_Mutation_p.I254M	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	254					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	TGGGCCCGAAGATCTCCTCCT	0.652													C	67431978	G	C	67431978	3	2	163	1	0	0	0	0	1	0	0	0	500	932	33	5	407	5	ALDH3B2	11	67431978	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	51	67431978	67574538	30	89042											
ATM	472	broad.mit.edu	37	chr11	108218089	108218089	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaacttgtacatatagatCtaggtaagtaataaaatcta	6	5	2	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr11:108218089C>G	uc001pkb.1	+	59	9053	c.8668C>G	c.(8668-8670)CTA>GTA	p.L2890V	ATM_uc009yxr.1_Missense_Mutation_p.L2890V|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.L1542V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2890	PI3K/PI4K.		L -> V (in T-prolymphocytic leukemia).		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	p.L2890V(2)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		ACATATAGATCTAGGTAAGTA	0.313			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)			G	108218089	C	G	108218089	3	3	163	1	0	0	0	0	1	0	0	0	1109	912	32	5	8898	5	ATM	11	108218089	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	40786111	108218089	26788427	31	89043											
PPP2R1B	5519	broad.mit.edu	37	chr11	111613304	111613304	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggccacattgaagcgaacaTttgctacttggtctcctgcc	9	12	1	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr11:111613304T>A	uc001plx.1	-	13	1724	c.1640A>T	c.(1639-1641)AAT>ATT	p.N547I	PPP2R1B_uc001plw.1_Missense_Mutation_p.N547I|PPP2R1B_uc010rwi.1_Missense_Mutation_p.N483I|PPP2R1B_uc010rwj.1_Missense_Mutation_p.N386I|PPP2R1B_uc010rwk.1_Missense_Mutation_p.N502I|PPP2R1B_uc010rwl.1_Missense_Mutation_p.N420I	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	547	HEAT 14.						protein binding				0		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)		GAAGCGAACATTTGCTACTTG	0.368													A	111613304	T	A	111613304	3	1	163	1	0	0	0	0	1	0	0	0	12383	1493	52	5	400	5	PPP2R1B	11	111613304	Missense_Mutation	SNP	T	TCGA-CG-4301-01A-01D-1158-08	3395215	111613304	23393212	32	89044											
NLRX1	79671	broad.mit.edu	37	chr11	119045756	119045756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttcctggccccatgtGtggagccagggcgtgcaggc	16	11	0	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr11:119045756G>A	uc001pvu.2	+	6	1659	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	NLRX1_uc010rzc.1_Missense_Mutation_p.V304M|NLRX1_uc001pvv.2_Missense_Mutation_p.V482M|NLRX1_uc001pvw.2_Missense_Mutation_p.V482M|NLRX1_uc001pvx.2_Missense_Mutation_p.V482M	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	482	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	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)		GGCCCCATGTGTGGAGCCAGG	0.612													A	119045756	G	A	119045756	3	1	163	1	0	0	0	0	1	0	0	0	10485	1377	48	4	1462	4	NLRX1	11	119045756	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	7432452	119045756	15960760	33	89045											
IL23A	51561	broad.mit.edu	37	chr12	56733273	56733273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatatccagtgtggagatGgctgtgacccccaaggactc	11	13	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr12:56733273G>A	uc001sla.2	+	2	392	c.226G>A	c.(226-228)GGC>AGC	p.G76S		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19 precursor	76					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity				0						GTGTGGAGATGGCTGTGACCC	0.502													A	56733273	G	A	56733273	3	1	163	1	0	0	0	0	1	0	0	0	7675	1348	47	4	232	4	IL23A	12	56733273	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		56733273	77118622	34	89046											
ATP5B	506	broad.mit.edu	37	chr12	57033084	57033084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgatatcctggagggatTtgtagtcctatgagaaaaaa	10	5	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr12:57033084T>C	uc001slr.2	-	9	1400	c.1295A>G	c.(1294-1296)AAA>AGA	p.K432R	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	432					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			ovary(1)	1						CTGGAGGGATTTGTAGTCCTA	0.428													C	57033084	T	C	57033084	3	2	163	1	0	0	0	0	1	0	0	0	1148	1841	64	3	302	3	ATP5B	12	57033084	Missense_Mutation	SNP	T	TCGA-CG-4301-01A-01D-1158-08	299811	57033084	76818811	35	89047											
UBC	7316	broad.mit.edu	37	chr12	125398003	125398003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgccttccttgtcctggatCtttgctttgacgttctcgat	8	11	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr12:125398003C>G	uc001ugs.3	-	2	763	c.315G>C	c.(313-315)AAG>AAC	p.K105N	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.K105N|UBC_uc001ugt.2_Missense_Mutation_p.K105N|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	105	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	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)		TGTCCTGGATCTTTGCTTTGA	0.532													G	125398003	C	G	125398003	3	3	163	1	0	0	0	0	1	0	0	0	16839	912	32	5	1746	5	UBC	12	125398003	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	68364919	125398003	8453892	36	89048											
TUBA3C	7278	broad.mit.edu	37	chr13	19751365	19751365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggttggtctggaattccGtcaagtccacattcagggcc	11	11	3	0	rs139914455		TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr13:19751365G>A	uc009zzj.2	-	4	807	c.758C>T	c.(757-759)ACG>ATG	p.T253M		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T253T(1)		ovary(3)|skin(2)	5		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)		CTGGAATTCCGTCAAGTCCAC	0.617													A	19751365	G	A	19751365	3	1	163	1	0	0	0	0	1	0	0	0	16743	1145	40	1	602	1	TUBA3C	13	19751365	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		19751365	95418513	37	89049											
NBEA	26960	broad.mit.edu	37	chr13	35770041	35770041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaccataaaagaaaaagaAacaccaactcctggtgaaga	7	9	0	4			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr13:35770041A>C	uc001uvb.2	+	31	5174	c.4968A>C	c.(4966-4968)GAA>GAC	p.E1656D	NBEA_uc010abi.2_Missense_Mutation_p.E312D	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1656						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AAGAAAAAGAAACACCAACTC	0.378													C	35770041	A	C	35770041	3	2	163	1	0	0	0	0	1	0	0	0	10187	11	1	5	5090	5	NBEA	13	35770041	Missense_Mutation	SNP	A	TCGA-CG-4301-01A-01D-1158-08	16018676	35770041	79399837	38	89050											
NALCN	259232	broad.mit.edu	37	chr13	101936302	101936302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggcaggctggggcGcgtccctggggcttgttgac	18	11	0	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr13:101936302G>A	uc001vox.1	-	10	1305	c.1116C>T	c.(1114-1116)CGC>CGT	p.R372R	NALCN_uc001voy.2_Silent_p.R87R|NALCN_uc001voz.2_Silent_p.R372R|NALCN_uc001vpa.2_Silent_p.R372R	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	372	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGCTGGGGCGCGTCCCTGGG	0.468													A	101936302	G	A	101936302	2	1	163	1	0	0	0	0	0	0	0	1	10148	1074	38	1		1	NALCN	13	101936302	Silent	SNP	G	TCGA-CG-4301-01A-01D-1158-08	66166261	101936302	13233576	39	89051											
HCN4	10021	broad.mit.edu	37	chr15	73635776	73635776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggagaggcgtaacaggcGtaagaggctgaggatcttcg	18	7	1	3			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr15:73635776G>A	uc002avp.2	-	2	2153	c.1159C>T	c.(1159-1161)CGC>TGC	p.R387C		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	387	Helical; Voltage-sensor; Name=Segment S4; (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CGTAACAGGCGTAAGAGGCTG	0.562													A	73635776	G	A	73635776	3	1	163	1	0	0	0	0	1	0	0	0	6999	1145	40	1	2480	1	HCN4	15	73635776	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		73635776	28895616	40	89052											
ABCC11	85320	broad.mit.edu	37	chr16	48201223	48201223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtggccatgagggctgCgaacaatgacccaggcttct	14	11	1	2	rs139034695	by1000genomes	TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr16:48201223C>T	uc002eff.1	-	29	4461	c.4111G>A	c.(4111-4113)GCA>ACA	p.A1371T	ABCC11_uc002efg.1_Missense_Mutation_p.A1371T|ABCC11_uc002efh.1_Missense_Mutation_p.A1333T|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1371	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGAGGGCTGCGAACAATGAC	0.567									Cerumen_Type				T	48201223	C	T	48201223	3	4	163	1	0	0	0	0	1	0	0	0	51	768	27	1	41	1	ABCC11	16	48201223	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08		48201223	42153530	41	89053											
KIF2B	84643	broad.mit.edu	37	chr17	51900727	51900727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcagggaccagcgtacCgccacgaaatgggttgcgat	13	12	1	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr17:51900727C>T	uc002iua.2	+	1	489	c.333C>T	c.(331-333)ACC>ACT	p.T111T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	111					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			ovary(5)|skin(3)	8						ACCAGCGTACCGCCACGAAAT	0.602													T	51900727	C	T	51900727	2	4	163	1	0	0	0	0	0	0	0	1	8298	639	23	1		1	KIF2B	17	51900727	Silent	SNP	C	TCGA-CG-4301-01A-01D-1158-08		51900727	29294483	42	89054											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043955	77043955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagacctacctgcacAtcatgaagaacgaggaggag	13	8	1	4			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr17:77043955A>G	uc002jwp.2	+	4	971	c.631A>G	c.(631-633)ATC>GTC	p.I211V	C1QTNF1_uc002jwq.2_Missense_Mutation_p.I129V|C1QTNF1_uc002jwr.3_Missense_Mutation_p.I221V|C1QTNF1_uc002jws.2_Missense_Mutation_p.I211V|C1QTNF1_uc002jwt.2_Missense_Mutation_p.I309V	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	211	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CTACCTGCACATCATGAAGAA	0.567													G	77043955	A	G	77043955	3	3	163	1	0	0	0	0	1	0	0	0	1962	217	8	3	641	3	C1QTNF1	17	77043955	Missense_Mutation	SNP	A	TCGA-CG-4301-01A-01D-1158-08	25143228	77043955	4151255	43	89055											
BAIAP2	10458	broad.mit.edu	37	chr17	79077849	79077849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagagcaagctcagcgactCctactccaacacactccccg	6	18	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr17:79077849C>T	uc002jzg.2	+	9	1115	c.1007C>T	c.(1006-1008)TCC>TTC	p.S336F	BAIAP2_uc002jyz.3_Missense_Mutation_p.S336F|BAIAP2_uc002jza.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzc.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzb.2_Missense_Mutation_p.S93F|BAIAP2_uc002jzd.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzf.2_Missense_Mutation_p.S336F|BAIAP2_uc002jze.2_Missense_Mutation_p.S369F|BAIAP2_uc010wuh.1_Missense_Mutation_p.S258F|BAIAP2_uc002jzh.2_Missense_Mutation_p.S337F|BAIAP2_uc010wui.1_Missense_Mutation_p.S199F	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	336					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				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCAGCGACTCCTACTCCAAC	0.637													T	79077849	C	T	79077849	3	4	163	1	0	0	0	0	1	0	0	0	1301	855	30	4	1041	4	BAIAP2	17	79077849	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	2033894	79077849	2117361	44	89056											
EPB41L3	23136	broad.mit.edu	37	chr18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaattctgttggttttcGcgcagactctaataaactga	8	7	2	3			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr18:5398076G>A	uc002kmt.1	-	17	2502	c.2416C>T	c.(2416-2418)CGA>TGA	p.R806*	EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R637*|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Nonsense_Mutation_p.R111*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.R103*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.R78*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.R198*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTTGGTTTTCGCGCAGACTCT	0.453													A	5398076	G	A	5398076	4	1	163	1	0	0	0	0	0	1	0	0	5154	1095	38	1	871	1	EPB41L3	18	5398076	Nonsense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		5398076	72679172	45	89057											
ROCK1	6093	broad.mit.edu	37	chr18	18546911	18546911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atcagtttcatcagcactagGaaaactagcaacacttgtag	7	9	3	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr18:18546911G>C	uc002kte.2	-	27	4260	c.3319C>G	c.(3319-3321)CCT>GCT	p.P1107A		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	1107					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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TCAGCACTAGGAAAACTAGCA	0.378													C	18546911	G	C	18546911	3	2	163	1	0	0	0	0	1	0	0	0	13517	1174	41	5	773	5	ROCK1	18	18546911	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	13148835	18546911	59530337	46	89058											
DCC	1630	broad.mit.edu	37	chr18	50734076	50734076	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttgatggactatcttatAaactggaaggcctgaaaaaa	10	5	1	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr18:50734076A>G	uc002lfe.1	+	11	2337	c.1750A>G	c.(1750-1752)AAA>GAA	p.K584E	DCC_uc010xdr.1_Missense_Mutation_p.K432E|DCC_uc010dpf.1_Missense_Mutation_p.K239E	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	584	Extracellular (Potential).|Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTATCTTATAAACTGGAAGG	0.378													G	50734076	A	G	50734076	3	3	163	1	0	0	0	0	1	0	0	0	4282	363	13	3	1792	3	DCC	18	50734076	Missense_Mutation	SNP	A	TCGA-CG-4301-01A-01D-1158-08	32187165	50734076	27343172	47	89059											
PNPLA6	10908	broad.mit.edu	37	chr19	7624011	7624011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgactgcttcaagaccatgGactttgggaagttcgaccag	11	10	1	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr19:7624011G>A	uc010xjq.1	+	30	3898	c.3703G>A	c.(3703-3705)GAC>AAC	p.D1235N	PNPLA6_uc002mgq.1_Missense_Mutation_p.D1187N|PNPLA6_uc010xjp.1_Missense_Mutation_p.D1160N|PNPLA6_uc002mgr.1_Missense_Mutation_p.D1187N|PNPLA6_uc002mgs.2_Missense_Mutation_p.D1225N|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1226	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CAAGACCATGGACTTTGGGAA	0.577													A	7624011	G	A	7624011	3	1	163	1	0	0	0	0	1	0	0	0	12169	1174	41	4	3817	4	PNPLA6	19	7624011	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		7624011	51504972	48	89060											
BRD4	23476	broad.mit.edu	37	chr19	15379809	15379809	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttccaagcgcttcttTattgttcccatatccatagg	6	10	1	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr19:15379809T>A	uc002nar.2	-	3	552	c.330A>T	c.(328-330)ATA>ATT	p.I110I	BRD4_uc002nas.2_Silent_p.I110I|BRD4_uc002nat.3_Silent_p.I110I|BRD4_uc002nau.3_Silent_p.I110I	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	110	Bromo 1.				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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGCGCTTCTTTATTGTTCCCA	0.413			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15379809	T	A	15379809	2	1	163	1	0	0	0	0	0	0	0	1	1504	1744	61	5		5	BRD4	19	15379809	Silent	SNP	T	TCGA-CG-4301-01A-01D-1158-08	7755798	15379809	43749174	49	89061											
DDA1	79016	broad.mit.edu	37	chr19	17424912	17424912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccgtgtgcaaagcctcGgtgagtgcgtgttcctggga	15	10	0	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr19:17424912G>A	uc002ngd.2	+	2	211	c.84G>A	c.(82-84)TCG>TCA	p.S28S	DDA1_uc002nge.2_5'UTR	NM_024050	NP_076955	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	28										ovary(1)	1						GCAAAGCCTCGGTGAGTGCGT	0.542													A	17424912	G	A	17424912	2	1	163	1	0	0	0	0	0	0	0	1	4320	1130	39	1		1	DDA1	19	17424912	Silent	SNP	G	TCGA-CG-4301-01A-01D-1158-08	2045103	17424912	41704071	50	89062											
FGF21	26291	broad.mit.edu	37	chr19	49260235	49260235	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttattcaaatcttgggagtCaagacatccaggttcctgtg	10	8	3	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr19:49260235C>A	uc002pkn.1	+	3	860	c.288C>A	c.(286-288)GTC>GTA	p.V96V	FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.V96V	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21 precursor	96					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTTGGGAGTCAAGACATCCA	0.567													A	49260235	C	A	49260235	2	1	163	1	0	0	0	0	0	0	0	1	5850	813	29	5		5	FGF21	19	49260235	Silent	SNP	C	TCGA-CG-4301-01A-01D-1158-08	31835323	49260235	9868748	51	89063											
C20orf85	128602	broad.mit.edu	37	chr20	56730598	56730598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgtttccgcatccggccGgtgaccccagtggagaagta	14	12	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr20:56730598G>A	uc002xyv.2	+	3	263	c.225G>A	c.(223-225)CCG>CCA	p.P75P		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	75										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GCATCCGGCCGGTGACCCCAG	0.438													A	56730598	G	A	56730598	2	1	163	1	0	0	0	0	0	0	0	1	2120	1103	39	1		1	C20orf85	20	56730598	Silent	SNP	G	TCGA-CG-4301-01A-01D-1158-08		56730598	6294922	52	89064											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253653	32253653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggttggctggcaagcaGtgggctcacagcaggtctct	14	10	2	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chr21:32253653G>A	uc002yov.2	-	1	222	c.191C>T	c.(190-192)ACT>ATT	p.T64I		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	64						keratin filament	structural molecule activity			pancreas(1)	1						CTGGCAAGCAGTGGGCTCACA	0.562													A	32253653	G	A	32253653	3	1	163	1	0	0	0	0	1	0	0	0	8517	1029	36	4	304	4	KRTAP11-1	21	32253653	Missense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08		32253653	15876242	53	89065											
UBA1	7317	broad.mit.edu	37	chrX	47061547	47061554	+	Splice_Site	DEL	CTCTGTAG	CTCTGTAG	-													ctgacagctctcttcctgccCtctgtaggtccttatacctt							TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chrX:47061546_47061553CCTCTGTAG>C	uc004dhj.4	+	9	963	c.812_splice	c.e9-2	p.G271_splice	UBA1_uc004dhk.4_Splice_Site_p.G271_splice|INE1_uc004dhl.3_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	271	2 approximate repeats.				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						CTCTTCCTGCCCTCTGTAGGTCCTTATA	0.5													-	47061554	CTCTGTAG	-	47061547	8	5	163	1	0	1	0	1	0	0	1	0	16824	696	24	0		0	UBA1	23	47061547	Splice_Site	DEL	CTCTGTAG	TCGA-CG-4301-01A-01D-1158-08		47061547	108209013	54	89066											
CCDC22	28952	broad.mit.edu	37	chrX	49104740	49104740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcggtggagctgctgcCcgatgggactgccaaccttg	15	14	0	0			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chrX:49104740C>T	uc004dnd.1	+	10	1337	c.1181C>T	c.(1180-1182)CCC>CTC	p.P394L	CCDC22_uc004dnc.1_RNA	NM_014008	NP_054727	O60826	CCD22_HUMAN	coiled-coil domain containing 22	394										central_nervous_system(1)	1						GAGCTGCTGCCCGATGGGACT	0.557													T	49104740	C	T	49104740	3	4	163	1	0	0	0	0	1	0	0	0	2797	623	22	4	1219	4	CCDC22	23	49104740	Missense_Mutation	SNP	C	TCGA-CG-4301-01A-01D-1158-08	2043193	49104740	106165820	55	89067											
GSPT2	23708	broad.mit.edu	37	chrX	51487601	51487601	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccctggccacaagagTtttgtcccaaatatgattgg	10	10	0	2			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chrX:51487601T>G	uc004dpl.2	+	1	1105	c.879T>G	c.(877-879)AGT>AGG	p.S293R		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	293				S -> G (in Ref. 2; BAA91612).	cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					GCCACAAGAGTTTTGTCCCAA	0.443													G	51487601	T	G	51487601	3	3	163	1	0	0	0	0	1	0	0	0	6827	1722	60	5	881	5	GSPT2	23	51487601	Missense_Mutation	SNP	T	TCGA-CG-4301-01A-01D-1158-08	2382861	51487601	103782959	56	89068											
ELF4	2000	broad.mit.edu	37	chrX	129206276	129206276	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagagaatgcccctcctGgtcactagtgtcacccgccc	8	18	2	1			TCGA-CG-4301-01A-01D-1158-08	TCGA-CG-4301-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2aaa578-47b2-4cba-8014-39c1f310c0bf	7a4e827f-75e1-4b82-b8e1-cc7077849fba	g.chrX:129206276G>A	uc004evd.3	-	5	842	c.457C>T	c.(457-459)CAG>TAG	p.Q153*	ELF4_uc004eve.3_Nonsense_Mutation_p.Q153*	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	153	RUNX1-binding.				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			ovary(1)	1						TGCCCCTCCTGGTCACTAGTG	0.562			T	ERG	AML								A	129206276	G	A	129206276	4	1	163	1	0	0	0	0	0	1	0	0	5056	1357	47	4	1554	4	ELF4	23	129206276	Nonsense_Mutation	SNP	G	TCGA-CG-4301-01A-01D-1158-08	77718675	129206276	26064284	57	89069											
ARHGEF16	27237	broad.mit.edu	37	chr1	3396111	3396112	+	Frame_Shift_Del	DEL	CA	CA	-													gcacggtggatcgtggcgctCacacacagtgagagacagtg							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:3396111_3396112delCA	uc001akg.3	+	13	2093_2094	c.1845_1846delCA	c.(1843-1848)CTCACAfs	p.L615fs	ARHGEF16_uc001aki.2_Frame_Shift_Del_p.L327fs|ARHGEF16_uc001akj.2_Frame_Shift_Del_p.L327fs|ARHGEF16_uc010nzh.1_Frame_Shift_Del_p.L319fs	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	615_616	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			ovary(1)	1	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)		TCGTGGCGCTCACACACAGTGA	0.653													-	3396112	CA	-	3396111	7	5	164	1	0	1	0	1	0	0	0	0	899	813	29	0	1891	0	ARHGEF16	1	3396111	Frame_Shift_Del	DEL	CA	TCGA-CG-4304-01A-01D-1158-08		3396111	245854510	1	89070											
PTCHD2	57540	broad.mit.edu	37	chr1	11579853	11579853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctccaacacgggcagcCgcggccatctcatcgtgcag	11	17	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:11579853C>T	uc001ash.3	+	9	2254	c.2116C>T	c.(2116-2118)CGC>TGC	p.R706C	PTCHD2_uc001asi.1_Missense_Mutation_p.R706C	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	706	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CACGGGCAGCCGCGGCCATCT	0.667													T	11579853	C	T	11579853	3	4	164	1	0	0	0	0	1	0	0	0	12733	652	23	1	2146	1	PTCHD2	1	11579853	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	8183742	11579853	237670768	2	89071											
USP48	84196	broad.mit.edu	37	chr1	22079022	22079022	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaaacagacttacacAgttacataggcatattctcc	6	9	1	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:22079022A>C	uc001bfb.2	-	5	901	c.663T>G	c.(661-663)ACT>ACG	p.T221T	USP48_uc010odq.1_Silent_p.T221T|USP48_uc009vqc.2_Silent_p.T221T|USP48_uc001bfc.2_Silent_p.T221T|USP48_uc001bfe.1_Silent_p.T221T|USP48_uc001bff.2_Silent_p.T221T	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	221					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		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)		AGACTTACACAGTTACATAGG	0.348													C	22079022	A	C	22079022	2	2	164	1	0	0	0	0	0	0	0	1	17076	175	7	5		5	USP48	1	22079022	Silent	SNP	A	TCGA-CG-4304-01A-01D-1158-08	10499169	22079022	227171599	3	89072											
ELTD1	64123	broad.mit.edu	37	chr1	79404873	79404873	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaactgttctacttacTtttgttaaagttttattaat	4	4	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:79404873T>A	uc001diq.3	-	4	552	c.396A>T	c.(394-396)AAA>AAT	p.K132N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	132	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTACTTACTTTTGTTAAAG	0.254													A	79404873	T	A	79404873	3	1	164	1	0	0	0	0	1	0	0	0	5084	1623	56	5	1724	5	ELTD1	1	79404873	Missense_Mutation	SNP	T	TCGA-CG-4304-01A-01D-1158-08	57325851	79404873	169845748	4	89073											
COL24A1	255631	broad.mit.edu	37	chr1	86591429	86591429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacacactattagaatcaAaggtctgaacttctggaata	6	7	3	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:86591429A>G	uc001dlj.2	-	3	632	c.590T>C	c.(589-591)TTT>TCT	p.F197S	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.F197S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	197	TSP N-terminal.|Laminin G-like.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAGAATCAAAGGTCTGAAC	0.323													G	86591429	A	G	86591429	3	3	164	1	0	0	0	0	1	0	0	0	3683	14	1	3	4786	3	COL24A1	1	86591429	Missense_Mutation	SNP	A	TCGA-CG-4304-01A-01D-1158-08	7186556	86591429	162659192	5	89074											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859408	149859408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaactggagaccagcgcggGacgagcgcgacttggcctta	16	11	0	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:149859408G>A	uc001ete.2	-	1	59	c.59C>T	c.(58-60)TCC>TTC	p.S20F	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	20					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACCAGCGCGGGACGAGCGCGA	0.637													A	149859408	G	A	149859408	3	1	164	1	0	0	0	0	1	0	0	0	7177	1174	41	4	337	4	HIST2H2AB	1	149859408	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	63267979	149859408	99391213	6	89075											
FCRL5	83416	broad.mit.edu	37	chr1	157508895	157508895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgacggagaggctcacCgccttactgcgctgggggcc	15	14	1	2	rs139032379	byFrequency	TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:157508895C>T	uc001fqu.2	-	7	1541	c.1383G>A	c.(1381-1383)GCG>GCA	p.A461A	FCRL5_uc009wsm.2_Silent_p.A461A|FCRL5_uc010phv.1_Silent_p.A461A|FCRL5_uc010phw.1_Silent_p.A376A|FCRL5_uc001fqv.1_Silent_p.A461A|FCRL5_uc010phx.1_Silent_p.A212A	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	461	Extracellular (Potential).|Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGGCTCACCGCCTTACTGC	0.582													T	157508895	C	T	157508895	2	4	164	1	0	0	0	0	0	0	0	1	5798	639	23	1		1	FCRL5	1	157508895	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	7649487	157508895	91741726	7	89076											
OR10J3	441911	broad.mit.edu	37	chr1	159284373	159284373	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacaacaaagaagacaAgtttgtgctgccgcctgaag	12	8	0	4			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:159284373A>C	uc010piu.1	-	1	77	c.77T>G	c.(76-78)CTT>CGT	p.L26R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	26	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					AAAGAAGACAAGTTTGTGCTG	0.448													C	159284373	A	C	159284373	3	2	164	1	0	0	0	0	1	0	0	0	10911	72	3	5	914	5	OR10J3	1	159284373	Missense_Mutation	SNP	A	TCGA-CG-4304-01A-01D-1158-08	1775478	159284373	89966248	8	89077											
ATP1A4	480	broad.mit.edu	37	chr1	160136448	160136448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccctcacccagaaccGcatgaccgtcgcccacatgt	9	18	1	2	rs139315814		TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:160136448G>A	uc001fve.3	+	8	1657	c.1178G>A	c.(1177-1179)CGC>CAC	p.R393H	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	393	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCAGAACCGCATGACCGTC	0.577													A	160136448	G	A	160136448	3	1	164	1	0	0	0	0	1	0	0	0	1131	1087	38	1	1208	1	ATP1A4	1	160136448	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	852075	160136448	89114173	9	89078											
TNN	63923	broad.mit.edu	37	chr1	175067562	175067562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccgccattgacaagtaCgtggtgcgctacacctctgc	11	14	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:175067562C>T	uc001gkl.1	+	9	2063	c.1950C>T	c.(1948-1950)TAC>TAT	p.Y650Y	TNN_uc010pmx.1_Silent_p.Y561Y	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	650	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTGACAAGTACGTGGTGCGCT	0.597													T	175067562	C	T	175067562	2	4	164	1	0	0	0	0	0	0	0	1	16320	547	19	1		1	TNN	1	175067562	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	14931114	175067562	74183059	10	89079											
LAMC1	3915	broad.mit.edu	37	chr1	183087207	183087207	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacccttggaggcctgctcTtaccccttttgaatttcaga	7	12	2	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:183087207T>A	uc001gpy.3	+	11	2173	c.1916T>A	c.(1915-1917)CTT>CAT	p.L639H		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	639	Laminin IV type A.				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			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCCTGCTCTTACCCCTTTT	0.423													A	183087207	T	A	183087207	3	1	164	1	0	0	0	0	1	0	0	0	8614	1609	56	5	1958	5	LAMC1	1	183087207	Missense_Mutation	SNP	T	TCGA-CG-4304-01A-01D-1158-08	8019645	183087207	66163414	11	89080											
EPRS	2058	broad.mit.edu	37	chr1	220153467	220153467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatataaatgcttctattGtagttgtatagtctcctcct	6	8	2	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:220153467G>A	uc001hly.1	-	26	3941	c.3671C>T	c.(3670-3672)ACA>ATA	p.T1224I		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1224	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			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGCTTCTATTGTAGTTGTATA	0.413													A	220153467	G	A	220153467	3	1	164	1	0	0	0	0	1	0	0	0	5191	1377	48	4	895	4	EPRS	1	220153467	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	37066260	220153467	29097154	12	89081											
URB2	9816	broad.mit.edu	37	chr1	229772123	229772123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgctggcccttctccCggacaccccaggcccagagc	10	21	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr1:229772123C>T	uc001hts.1	+	4	1899	c.1763C>T	c.(1762-1764)CCG>CTG	p.P588L	URB2_uc009xfd.1_Missense_Mutation_p.P588L	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	588						nucleolus				central_nervous_system(2)|ovary(1)	3						GCCCTTCTCCCGGACACCCCA	0.612													T	229772123	C	T	229772123	3	4	164	1	0	0	0	0	1	0	0	0	17022	652	23	1	1773	1	URB2	1	229772123	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	9618656	229772123	19478498	13	89082											
NRXN1	9378	broad.mit.edu	37	chr2	51255085	51255085	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaggcgccgtcgttAaccggcgtgtcggccaggag	16	13	0	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr2:51255085A>C	uc010fbq.2	-	2	1804	c.327T>G	c.(325-327)GTT>GTG	p.V109V	NRXN1_uc002rxe.3_Silent_p.V109V|NRXN1_uc002rxd.1_Silent_p.V109V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCCGTCGTTAACCGGCGTGT	0.662													C	51255085	A	C	51255085	2	2	164	1	0	0	0	0	0	0	0	1	10665	349	13	5		5	NRXN1	2	51255085	Silent	SNP	A	TCGA-CG-4304-01A-01D-1158-08		51255085	191944288	14	89083											
ANKRD53	79998	broad.mit.edu	37	chr2	71211788	71211788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatcagaaagtggctccaCggcaagctgcacccaggcca	11	14	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr2:71211788C>T	uc002shl.3	+	6	1152	c.951C>T	c.(949-951)CAC>CAT	p.H317H	ANKRD53_uc002shk.3_3'UTR|ANKRD53_uc002shm.3_3'UTR	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	317											0						AGTGGCTCCACGGCAAGCTGC	0.572											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	71211788	C	T	71211788	2	4	164	1	0	0	0	0	0	0	0	1	679	535	19	1		1	ANKRD53	2	71211788	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	19956703	71211788	171987585	15	89084											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcgccttctgcaggCgcgggttcagcattttggaa	11	12	3	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr2:107459775C>T	uc002tdq.2	-	2	778	c.659G>A	c.(658-660)CGC>CAC	p.R220H	ST6GAL2_uc002tdr.2_Missense_Mutation_p.R220H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R220H	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	220	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTTCTGCAGGCGCGGGTTCAG	0.647													T	107459775	C	T	107459775	3	4	164	1	0	0	0	0	1	0	0	0	15221	768	27	1	1037	1	ST6GAL2	2	107459775	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	36247987	107459775	135739598	16	89085											
ZNF385B	151126	broad.mit.edu	37	chr2	180309654	180309654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaagggctgtattttggCttcagtggtttccctgcaac	11	8	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr2:180309654C>T	uc002unn.3	-	9	1750	c.1146G>A	c.(1144-1146)AAG>AAA	p.K382K	ZNF385B_uc002unj.2_Silent_p.K280K|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.K279K|ZNF385B_uc002unm.2_Silent_p.K306K	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	382						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGTATTTTGGCTTCAGTGGTT	0.468													T	180309654	C	T	180309654	2	4	164	1	0	0	0	0	0	0	0	1	17874	796	28	2		2	ZNF385B	2	180309654	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	72849879	180309654	62889719	17	89086											
DNAH7	56171	broad.mit.edu	37	chr2	196749409	196749409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccactctgtaatttaaacGtatttcgagttcgatctgaa	6	8	2	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr2:196749409G>A	uc002utj.3	-	35	5764	c.5663C>T	c.(5662-5664)ACG>ATG	p.T1888M		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1888					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TAATTTAAACGTATTTCGAGT	0.363													A	196749409	G	A	196749409	3	1	164	1	0	0	0	0	1	0	0	0	4606	1145	40	1	6535	1	DNAH7	2	196749409	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	16439755	196749409	46449964	18	89087											
COL6A3	1293	broad.mit.edu	37	chr2	238249780	238249780	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaaatccacaggatgggtcGatgttgcagatgtctagaaa	11	8	1	2	rs144249704		TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr2:238249780G>C	uc002vwl.2	-	38	8064	c.7779C>G	c.(7777-7779)ATC>ATG	p.I2593M	COL6A3_uc002vwo.2_Missense_Mutation_p.I2387M|COL6A3_uc010znj.1_Missense_Mutation_p.I1986M|COL6A3_uc002vwj.2_Translation_Start_Site	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2593	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		AGGATGGGTCGATGTTGCAGA	0.527													C	238249780	G	C	238249780	3	2	164	1	0	0	0	0	1	0	0	0	3701	1048	37	5	1782	5	COL6A3	2	238249780	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	41500371	238249780	4949593	19	89088											
CNTN6	27255	broad.mit.edu	37	chr3	1337484	1337484	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actccattagtgcagcgcacTgatggtaagataatgagtta	10	7	0	3			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr3:1337484T>G	uc003boz.2	+	6	921	c.654T>G	c.(652-654)ACT>ACG	p.T218T	CNTN6_uc010hbo.2_Silent_p.T213T|CNTN6_uc011asj.1_Silent_p.T146T|CNTN6_uc003bpa.2_Silent_p.T218T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	218					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		TGCAGCGCACTGATGGTAAGA	0.438													G	1337484	T	G	1337484	2	3	164	1	0	0	0	0	0	0	0	1	3645	1567	55	5		5	CNTN6	3	1337484	Silent	SNP	T	TCGA-CG-4304-01A-01D-1158-08		1337484	196684946	20	89089											
CACNA2D3	55799	broad.mit.edu	37	chr3	54871251	54871251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtttagtaagcagaaCgaaaccgtgagtacagtcgc	11	9	0	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr3:54871251C>T	uc003dhf.2	+	15	1512	c.1464C>T	c.(1462-1464)AAC>AAT	p.N488N	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.N394N|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.N222N	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	488	Extracellular (Potential).|Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTAAGCAGAACGAAACCGTGA	0.517													T	54871251	C	T	54871251	2	4	164	1	0	0	0	0	0	0	0	1	2550	535	19	1		1	CACNA2D3	3	54871251	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	53533767	54871251	143151179	21	89090											
OR5H2	79310	broad.mit.edu	37	chr3	98001984	98001985	+	Frame_Shift_Ins	INS	-	-	A													atcttccacagtaactcccaINSaaatgttggttaatttcttg							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr3:98001983_98001984C>CA	uc003dsj.1	+	0	252_253	c.252_253C>CA	c.(250-255)cccaaafs	p.P84fs		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P84P(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGTAACTCCCAAAATGTTGGT	0.376													A	98001985	-	A	98001984	7	5	164	1	0	1	1	0	0	0	0	0	11162	131	5	0	255	0	OR5H2	3	98001984	Frame_Shift_Ins	INS	-	TCGA-CG-4304-01A-01D-1158-08	43130733	98001984	100020446	22	89091											
C3orf52	79669	broad.mit.edu	37	chr3	111828417	111828417	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacagtacatcgcccTctctgggtcgttattttact	8	10	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr3:111828417T>G	uc003dyq.3	+	4	497	c.424T>G	c.(424-426)TCT>GCT	p.S142A	C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_5'Flank	NM_024616	NP_078892	Q5BVD1	TTMP_HUMAN	TPA-induced transmembrane protein	142						endoplasmic reticulum membrane|integral to membrane					0						TACATCGCCCTCTCTGGGTCG	0.413													G	111828417	T	G	111828417	3	3	164	1	0	0	0	0	1	0	0	0	2232	1551	54	5	438	5	C3orf52	3	111828417	Missense_Mutation	SNP	T	TCGA-CG-4304-01A-01D-1158-08	13826433	111828417	86194013	23	89092											
PODXL2	50512	broad.mit.edu	37	chr3	127381088	127381088	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgcacaggtgatctgCaaggactggagcaatctggc	12	12	2	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr3:127381088C>A	uc003ejq.2	+	4	1164	c.1140C>A	c.(1138-1140)TGC>TGA	p.C380*		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	380	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						AGGTGATCTGCAAGGACTGGA	0.547													A	127381088	C	A	127381088	4	1	164	1	0	0	0	0	0	1	0	0	12181	718	25	5	1154	5	PODXL2	3	127381088	Nonsense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	15552671	127381088	70641342	24	89093											
RASGEF1B	153020	broad.mit.edu	37	chr4	82355019	82355019	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcactgaagactggtactgtGagcagatactgcaagatctt	10	8	2	5			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr4:82355019G>A	uc003hmi.1	-	12	1443	c.1299C>T	c.(1297-1299)CTC>CTT	p.L433L	RASGEF1B_uc003hmj.1_Silent_p.L432L|RASGEF1B_uc010ijq.1_Silent_p.L391L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	433	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						CTGGTACTGTGAGCAGATACT	0.423													A	82355019	G	A	82355019	2	1	164	1	0	0	0	0	0	0	0	1	13070	1277	45	4		4	RASGEF1B	4	82355019	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08		82355019	108799257	25	89094											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089636	137089636	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcgcttggtctggggattCaccaccaccacgcagtccgt	12	14	2	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr5:137089636C>T	uc003lbt.2	-	1	404	c.120G>A	c.(118-120)GTG>GTA	p.V40V	MYOT_uc011cye.1_Intron|HNRNPA0_uc010jeo.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	40	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGGGGATTCACCACCACCA	0.642													T	137089636	C	T	137089636	2	4	164	1	0	0	0	0	0	0	0	1	7256	813	29	4		4	HNRNPA0	5	137089636	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08		137089636	43825624	26	89095											
GRIA1	2890	broad.mit.edu	37	chr5	153030042	153030042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctggtggtggtggactgtGaatcagaacgcctcaatgct	15	8	2	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr5:153030042G>A	uc003lva.3	+	4	978	c.613G>A	c.(613-615)GAA>AAA	p.E205K	GRIA1_uc003luy.3_Missense_Mutation_p.E205K|GRIA1_uc003luz.3_Missense_Mutation_p.E110K|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E125K|GRIA1_uc011dcx.1_Missense_Mutation_p.E136K|GRIA1_uc011dcy.1_Missense_Mutation_p.E215K|GRIA1_uc011dcz.1_Missense_Mutation_p.E215K|GRIA1_uc010jia.1_Missense_Mutation_p.E185K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	205	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	GGTGGACTGTGAATCAGAACG	0.532													A	153030042	G	A	153030042	3	1	164	1	0	0	0	0	1	0	0	0	6767	1291	45	4	627	4	GRIA1	5	153030042	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	15940406	153030042	27885218	27	89096											
FLT4	2324	broad.mit.edu	37	chr5	180040051	180040051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggccctcatccttgtgcCgtctctcagccgctggcaga	12	16	3	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr5:180040051C>T	uc003mma.3	-	25	3470	c.3391G>A	c.(3391-3393)GGC>AGC	p.G1131S	FLT4_uc003mlz.3_Missense_Mutation_p.G1131S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1131	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	ATCCTTGTGCCGTCTCTCAGC	0.667									Congenital_Hereditary_Lymphedema				T	180040051	C	T	180040051	3	4	164	1	0	0	0	0	1	0	0	0	5944	652	23	1	732	1	FLT4	5	180040051	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	27010009	180040051	875209	28	89097											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124688	26124688	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcggctcgcgacaacaagaaGactcgcatcatcccgcgcca	10	16	1	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr6:26124688G>C	uc003ngm.2	+	1	316	c.228G>C	c.(226-228)AAG>AAC	p.K76N	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.K76N	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	76					nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACAACAAGAAGACTCGCATCA	0.657													C	26124688	G	C	26124688	3	2	164	1	0	0	0	0	1	0	0	0	7130	933	33	5	230	5	HIST1H2AC	6	26124688	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08		26124688	144990379	29	89098											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860703	27860703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggatgatgcgggtcttTttgttgtcgcgggctgcgtt	17	8	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr6:27860703T>C	uc003nkb.1	-	1	261	c.225A>G	c.(223-225)AAA>AAG	p.K75K	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	75					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						TGCGGGTCTTTTTGTTGTCGC	0.642													C	27860703	T	C	27860703	2	2	164	1	0	0	0	0	0	0	0	1	7139	1838	64	3		3	HIST1H2AM	6	27860703	Silent	SNP	T	TCGA-CG-4304-01A-01D-1158-08	1736015	27860703	143254364	30	89099											
LRFN2	57497	broad.mit.edu	37	chr6	40359893	40359893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcgaaggagtggctgCgtttggccttgccctccaac	12	13	0	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr6:40359893C>T	uc003oph.1	-	3	2624	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	720	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAGTGGCTGCGTTTGGCCTT	0.711													T	40359893	C	T	40359893	3	4	164	1	0	0	0	0	1	0	0	0	8938	768	27	1	214	1	LRFN2	6	40359893	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	12499190	40359893	130755174	31	89100											
AUTS2	26053	broad.mit.edu	37	chr7	70231198	70231198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccgccctacctgcggaccGagttccatcagcaccagcac	8	19	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr7:70231198G>A	uc003tvw.3	+	9	2310	c.1567G>A	c.(1567-1569)GAG>AAG	p.E523K	AUTS2_uc003tvx.3_Missense_Mutation_p.E523K|AUTS2_uc011keg.1_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	523										ovary(2)|central_nervous_system(1)	3		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)		CCTGCGGACCGAGTTCCATca	0.463													A	70231198	G	A	70231198	3	1	164	1	0	0	0	0	1	0	0	0	1225	1059	37	1	1746	1	AUTS2	7	70231198	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08		70231198	88907465	32	89101											
PCLO	27445	broad.mit.edu	37	chr7	82764926	82764926	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaactggagccagatccccgCctagagctcttttcatttga	9	12	2	3			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr7:82764926C>G	uc003uhx.2	-	3	2229	c.1940G>C	c.(1939-1941)GGC>GCC	p.G647A	PCLO_uc003uhv.2_Missense_Mutation_p.G647A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	593	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGATCCCCGCCTAGAGCTCT	0.448													G	82764926	C	G	82764926	3	3	164	1	0	0	0	0	1	0	0	0	11583	739	26	5	13597	5	PCLO	7	82764926	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	12533728	82764926	76373737	33	89102											
PTPRN2	5799	broad.mit.edu	37	chr7	157414082	157414082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccagggagcggttcttGggcacgttctcctccctctg	13	14	3	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr7:157414082G>A	uc003wno.2	-	15	2437	c.2316C>T	c.(2314-2316)CCC>CCT	p.P772P	PTPRN2_uc003wnp.2_Silent_p.P755P|PTPRN2_uc003wnq.2_Silent_p.P743P|PTPRN2_uc003wnr.2_Silent_p.P734P|PTPRN2_uc011kwa.1_Silent_p.P795P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	772	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	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)		AGCGGTTCTTGGGCACGTTCT	0.637													A	157414082	G	A	157414082	2	1	164	1	0	0	0	0	0	0	0	1	12808	1335	47	4		4	PTPRN2	7	157414082	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08	74649156	157414082	1724581	34	89103											
LZTS1	11178	broad.mit.edu	37	chr8	20110556	20110556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcgccgcggccgctcctCgtaggccaggctggaggcaa	16	15	0	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr8:20110556C>T	uc003wzr.2	-	2	997	c.886G>A	c.(886-888)GAG>AAG	p.E296K	LZTS1_uc010ltg.1_Missense_Mutation_p.E296K	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	296	Potential.				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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCCGCTCCTCGTAGGCCAGG	0.677													T	20110556	C	T	20110556	3	4	164	1	0	0	0	0	1	0	0	0	9138	893	31	1	912	1	LZTS1	8	20110556	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08		20110556	126253466	35	89104											
ASAP1	50807	broad.mit.edu	37	chr8	131088602	131088602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatagatcttacctttctgaGgtagtttaggaagaactctt	9	6	3	3			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr8:131088602G>T	uc003yta.1	-	26	2721	c.2693C>A	c.(2692-2694)CCT>CAT	p.P898H	ASAP1_uc003ysz.1_Missense_Mutation_p.P709H|ASAP1_uc011liw.1_Missense_Mutation_p.P891H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	898	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			ovary(4)	4						ACCTTTCTGAGGTAGTTTAGG	0.284													T	131088602	G	T	131088602	3	4	164	1	0	0	0	0	1	0	0	0	1010	1000	35	5	712	5	ASAP1	8	131088602	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	110978046	131088602	15275420	36	89105											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773557	145773557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggttcatagccatagcGcggggaggagggctgcgagt	20	8	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr8:145773557G>A	uc003zdt.1	-	6	1468	c.913C>T	c.(913-915)CGC>TGC	p.R305C	ARHGAP39_uc011llk.1_Missense_Mutation_p.R305C|ARHGAP39_uc003zds.1_Missense_Mutation_p.R305C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	305	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						TAGCCATAGCGCGGGGAGGAG	0.692													A	145773557	G	A	145773557	3	1	164	1	0	0	0	0	1	0	0	0	884	1087	38	1	2463	1	ARHGAP39	8	145773557	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	14684955	145773557	590465	37	89106											
PHF2	5253	broad.mit.edu	37	chr9	96438029	96438029	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtacacgggtggcttccatCgagaccgggctggcggctgc	17	12	0	1	rs148663364		TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr9:96438029C>T	uc004aub.2	+	20	2937	c.2790C>T	c.(2788-2790)ATC>ATT	p.I930I	PHF2_uc011lug.1_Silent_p.I813I|PHF2_uc004auc.2_Silent_p.I350I	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	930					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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGGCTTCCATCGAGACCGGGC	0.657													T	96438029	C	T	96438029	2	4	164	1	0	0	0	0	0	0	0	1	11830	874	31	1		1	PHF2	9	96438029	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08		96438029	44775402	38	89107											
OR5C1	392391	broad.mit.edu	37	chr9	125551994	125551994	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtacgggacactcattttCatgtacctgcgccccagctc	8	14	2	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr9:125551994C>A	uc011lzd.1	+	1	783	c.783C>A	c.(781-783)TTC>TTA	p.F261L		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	261	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						CACTCATTTTCATGTACCTGC	0.587													A	125551994	C	A	125551994	3	1	164	1	0	0	0	0	1	0	0	0	11153	825	29	5	785	5	OR5C1	9	125551994	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	29113965	125551994	15661437	39	89108											
ALOX5	240	broad.mit.edu	37	chr10	45938960	45938960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgatgtctacgtgtaCggcatgcggggccgcaagtc	15	10	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr10:45938960C>T	uc001jce.2	+	11	1647	c.1548C>T	c.(1546-1548)TAC>TAT	p.Y516Y	ALOX5_uc009xmt.2_Silent_p.Y484Y|ALOX5_uc010qfg.1_Silent_p.Y516Y	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	516	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			ovary(1)|pancreas(1)	2		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)	TCTACGTGTACGGCATGCGGG	0.692													T	45938960	C	T	45938960	2	4	164	1	0	0	0	0	0	0	0	1	540	547	19	1		1	ALOX5	10	45938960	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08		45938960	89595787	40	89109											
MYOF	26509	broad.mit.edu	37	chr10	95069867	95069867	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttaaagcggcgccacacGatgaacttcatggtcttgca	9	12	2	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr10:95069867G>A	uc001kin.2	-	53	6180	c.6057C>T	c.(6055-6057)ATC>ATT	p.I2019I	MYOF_uc001kio.2_Silent_p.I2006I|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	2019	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						GGCGCCACACGATGAACTTCA	0.542													A	95069867	G	A	95069867	2	1	164	1	0	0	0	0	0	0	0	1	10089	1048	37	1		1	MYOF	10	95069867	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08	49130907	95069867	40464880	41	89110											
GALNTL4	374378	broad.mit.edu	37	chr11	11400693	11400716	+	In_Frame_Del	DEL	GCCACTGACCCTGGAGCGGATGAG	GCCACTGACCCTGGAGCGGATGAG	-													ggggcagtggccgccctccaGccactgaccctggagcggat							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr11:11400692_11400715AGCCACTGACCCTGGAGCGGATGAG>A	uc001mjo.2	-	3	1113_1136	c.692_715CTCATCCGCTCCAGGGTCAGTGGCT>T	c.(691-717)ctcatccgctccagggtcagtggctgg>cTgg	p.IRSRVSGW232del		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	232	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GCCGCCCTCCAGCCACTGACCCTGGAGCGGATGAGGCCTTCCTG	0.585													-	11400716	GCCACTGACCCTGGAGCGGATGAG	-	11400693	7	5	164	1	0	1	0	1	0	0	0	0	6223	958	34	0	1141	0	GALNTL4	11	11400693	In_Frame_Del	DEL	GCCACTGACCCTGGAGCGGATGAG	TCGA-CG-4304-01A-01D-1158-08		11400693	123605823	42	89111											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956197	18956197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagccagagcacaactgcGtttcctgtcagcccgacaag	11	13	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr11:18956197G>A	uc001mpg.2	-	1	353	c.135C>T	c.(133-135)AAC>AAT	p.N45N		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	45	Helical; Name=1; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GCACAACTGCGTTTCCTGTCA	0.577													A	18956197	G	A	18956197	2	1	164	1	0	0	0	0	0	0	0	1	9766	1136	40	1		1	MRGPRX1	11	18956197	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08	7555504	18956197	116050319	43	89112											
MUC15	143662	broad.mit.edu	37	chr11	26587340	26587340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttgattttcttttccAtggctccccgatagaagtga	8	9	2	3			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr11:26587340A>G	uc001mqx.2	-	2	332	c.66T>C	c.(64-66)CAT>CAC	p.H22H	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.H49H|MUC15_uc001mqy.2_Silent_p.H49H	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	22						extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTTCTTTTCCATGGCTCCCCG	0.328													G	26587340	A	G	26587340	2	3	164	1	0	0	0	0	0	0	0	1	9972	214	8	3		3	MUC15	11	26587340	Silent	SNP	A	TCGA-CG-4304-01A-01D-1158-08	7631143	26587340	108419176	44	89113											
ZBTB44	29068	broad.mit.edu	37	chr11	130109742	130109742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagcattagtgctagaCgtgctttgaagtgtaggcaa	15	5	0	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr11:130109742C>T	uc001qga.2	-	3	1462	c.1068G>A	c.(1066-1068)ACG>ACA	p.T356T	ZBTB44_uc001qgb.3_Silent_p.T356T|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Silent_p.T356T|ZBTB44_uc001qfz.2_Silent_p.T356T	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		TAGTGCTAGACGTGCTTTGAA	0.438													T	130109742	C	T	130109742	2	4	164	1	0	0	0	0	0	0	0	1	17542	523	19	1		1	ZBTB44	11	130109742	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	103522402	130109742	4896774	45	89114											
SRGAP1	57522	broad.mit.edu	37	chr12	64488927	64488929	+	Missense_Mutation	TNP	TTC	TTC	AAA													gtcttcagcatcaggggattTtcagagtgtctggttcccag							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr12:64488927_64488929TTC>AAA	uc010ssp.1	+	14	1677_1679	c.1621_1623TTC>AAA	c.(1621-1623)TTC>AAA	p.F541K	SRGAP1_uc001srv.2_Missense_Mutation_p.F478K	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	541	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCAGGGGATTTTCAGAGTGTCTG	0.404													AAA	64488929	TTC	AAA	64488927	3	1	164	1	0	0	0	0	1	0	0	0	15144	1841	64	5	1675	5	SRGAP1	12	64488927	Missense_Mutation	TNP	TTC	TCGA-CG-4304-01A-01D-1158-08		64488927	69362968	46	89115											
NUP107	57122	broad.mit.edu	37	chr12	69096558	69096558	+	Frame_Shift_Del	DEL	A	A	-													gaagaggaaagtgtattcgcAgttactgtaagttttatatt							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr12:69096557_69096557CA>C	uc001suf.3	+	7	837	c.722_722CA>C	c.(721-723)gcafs	p.A241fs	NUP107_uc001sug.3_Frame_Shift_Del_p.A88fs|NUP107_uc010stj.2_Frame_Shift_Del_p.A212fs	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	241					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGTGTATTCGCAGTTACTGTA	0.274													-	69096558	A	-	69096558	7	5	164	1	0	1	0	1	0	0	0	0	10753	175	7	0	753	0	NUP107	12	69096558	Frame_Shift_Del	DEL	A	TCGA-CG-4304-01A-01D-1158-08	4607631	69096558	64755337	47	89116											
RSRC2	65117	broad.mit.edu	37	chr12	122995657	122995657	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatgaaaaaaattaccTgcagctatttcttgttgttt	6	5	1	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr12:122995657T>C	uc001ucr.2	-	7	950	c.804A>G	c.(802-804)GCA>GCG	p.A268A	RSRC2_uc001uco.2_Silent_p.A36A|RSRC2_uc001ucp.2_Silent_p.A209A|RSRC2_uc001ucq.2_Silent_p.A36A|RSRC2_uc001ucs.2_Silent_p.A36A|RSRC2_uc001uct.2_Silent_p.A220A|RSRC2_uc001ucu.2_Silent_p.A268A	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	268	Potential.									ovary(1)	1	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)		AAAAATTACCTGCAGCTATTT	0.244													C	122995657	T	C	122995657	2	2	164	1	0	0	0	0	0	0	0	1	13715	1594	55	3		3	RSRC2	12	122995657	Silent	SNP	T	TCGA-CG-4304-01A-01D-1158-08	53899099	122995657	10856238	48	89117											
NUPL1	9818	broad.mit.edu	37	chr13	25882042	25882042	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttttggaaccgggctctttgGatctaaacctgccactgggt	11	10	2	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr13:25882042G>C	uc001uqi.2	+	2	452	c.206G>C	c.(205-207)GGA>GCA	p.G69A	NUPL1_uc001uqg.1_Missense_Mutation_p.G69A|NUPL1_uc001uqj.2_Missense_Mutation_p.G69A	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	69	14 X 2 AA repeats of F-G.|5.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		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)		GGGCTCTTTGGATCTAAACCT	0.458													C	25882042	G	C	25882042	3	2	164	1	0	0	0	0	1	0	0	0	10774	1174	41	5	212	5	NUPL1	13	25882042	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08		25882042	89287836	49	89118											
DCLK1	9201	broad.mit.edu	37	chr13	36686282	36686282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgacgttcaccgaccaGttggggttcacattcttggt	11	10	4	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr13:36686282G>T	uc001uvf.2	-	3	680	c.447C>A	c.(445-447)AAC>AAA	p.N149K		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	149					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			stomach(6)|ovary(2)|skin(1)	9		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)		TCACCGACCAGTTGGGGTTCA	0.468													T	36686282	G	T	36686282	3	4	164	1	0	0	0	0	1	0	0	0	4291	1020	36	5	1806	5	DCLK1	13	36686282	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	10804240	36686282	78483596	50	89119											
GPC5	2262	broad.mit.edu	37	chr13	92345708	92345708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgcatccggatggctcGccgggatgtgagtccatttg	14	9	0	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr13:92345708G>A	uc010tif.1	+	3	959	c.593G>A	c.(592-594)CGC>CAC	p.R198H		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	198						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGATGGCTCGCCGGGATGTG	0.502													A	92345708	G	A	92345708	3	1	164	1	0	0	0	0	1	0	0	0	6601	1087	38	1	603	1	GPC5	13	92345708	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	55659426	92345708	22824170	51	89120											
ZNF219	51222	broad.mit.edu	37	chr14	21561022	21561022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcagtggcaggggtgGcctgcatgccccctgagctt	14	14	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr14:21561022G>T	uc001vzr.2	-	3	855	c.434C>A	c.(433-435)GCC>GAC	p.A145D	ZNF219_uc001vzs.2_Missense_Mutation_p.A145D|ZNF219_uc010aik.1_Missense_Mutation_p.A145D	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	145					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			central_nervous_system(1)	1	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)		GGCAGGGGTGGCCTGCATGCC	0.677											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	21561022	G	T	21561022	3	4	164	1	0	0	0	0	1	0	0	0	17770	1203	42	5	1746	5	ZNF219	14	21561022	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08		21561022	85788518	52	89121											
BAZ1A	11177	broad.mit.edu	37	chr14	35343708	35343708	+	Frame_Shift_Del	DEL	G	G	-													cggctcttactcgtagtggcGgaagatctcgttggtgactt							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr14:35343707_35343707CG>C	uc001wsk.3	-	1	672	c.104_104CG>G	c.(103-105)cgcfs	p.R35fs	BAZ1A_uc001wsl.3_Frame_Shift_Del_p.R35fs|BAZ1A_uc001wsm.1_Frame_Shift_Del_p.R35fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	35	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				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)		CTCGTAGTGGCGGAAGATCTC	0.637													-	35343708	G	-	35343708	7	5	164	1	0	1	0	1	0	0	0	0	1329	1116	39	0	4671	0	BAZ1A	14	35343708	Frame_Shift_Del	DEL	G	TCGA-CG-4304-01A-01D-1158-08	13782686	35343708	72005832	53	89122											
SSTR1	6751	broad.mit.edu	37	chr14	38678850	38678850	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatctacgtgatcctgcgcTatgccaagatgaagacggcc	10	12	2	4			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr14:38678850T>A	uc001wul.1	+	3	873	c.256T>A	c.(256-258)TAT>AAT	p.Y86N	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	86	Cytoplasmic (Potential).				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			central_nervous_system(3)|ovary(1)|lung(1)	5	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)	GATCCTGCGCTATGCCAAGAT	0.557													A	38678850	T	A	38678850	3	1	164	1	0	0	0	0	1	0	0	0	15196	1522	53	5	258	5	SSTR1	14	38678850	Missense_Mutation	SNP	T	TCGA-CG-4304-01A-01D-1158-08	3335142	38678850	68670690	54	89123											
C14orf182	283551	broad.mit.edu	37	chr14	50472506	50472506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttttccagggttgccatCcgacctgtcatttggtctgt	10	11	2	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr14:50472506C>T	uc001wxi.1	-	1	1733	c.12G>A	c.(10-12)CGG>CGA	p.R4R		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	hypothetical protein LOC283551	4											0						GGGTTGCCATCCGACCTGTCA	0.512													T	50472506	C	T	50472506	2	4	164	1	0	0	0	0	0	0	0	1	1765	842	30	4		4	C14orf182	14	50472506	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	11793656	50472506	56877034	55	89124											
KIAA0586	9786	broad.mit.edu	37	chr14	58934502	58934502	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccacctgctggagtgattgtCagcaagccacaccctgtaac	9	14	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr14:58934502C>G	uc001xdv.3	+	15	2349	c.2076C>G	c.(2074-2076)GTC>GTG	p.V692V	KIAA0586_uc010trr.1_Silent_p.V809V|KIAA0586_uc001xdt.3_Silent_p.V724V|KIAA0586_uc001xdu.3_Silent_p.V753V|KIAA0586_uc010trs.1_Silent_p.V683V|KIAA0586_uc010trt.1_Silent_p.V628V|KIAA0586_uc010tru.1_Silent_p.V628V	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	692										ovary(1)	1						GAGTGATTGTCAGCAAGCCAC	0.388													G	58934502	C	G	58934502	2	3	164	1	0	0	0	0	0	0	0	1	8186	813	29	5		5	KIAA0586	14	58934502	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	8461996	58934502	48415038	56	89125											
PPP1R13B	23368	broad.mit.edu	37	chr14	104251213	104251245	+	In_Frame_Del	DEL	GATGTTCGTACATCATATGATCAAAGGGTATGG	GATGTTCGTACATCATATGATCAAAGGGTATGG	-													ccgtggaccccatttctgaaGatgttcgtacatcatatgat							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr14:104251212_104251244AGATGTTCGTACATCATATGATCAAAGGGTATGG>A	uc001yof.1	-	2	448_480	c.165_197CCATACCCTTTGATCATATGATGTACGAACATCT>T	c.(163-198)cccataccctttgatcatatgatgtacgaacatctt>ccTt	p.IPFDHMMYEHL56del	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	56					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.E64*(2)|p.P57P(2)|p.M61I(2)		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)				CCATTTCTGAAGATGTTCGTACATCATATGATCAAAGGGTATGGGACGTTCTA	0.378													-	104251245	GATGTTCGTACATCATATGATCAAAGGGTATGG	-	104251213	7	5	164	1	0	1	0	1	0	0	0	0	12357	942	33	0	3136	0	PPP1R13B	14	104251213	In_Frame_Del	DEL	GATGTTCGTACATCATATGATCAAAGGGTATGG	TCGA-CG-4304-01A-01D-1158-08	45316711	104251213	3098327	57	89126											
AP4E1	23431	broad.mit.edu	37	chr15	51250862	51250862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaatacagttgagagattAatccatgaatttaccatatc	5	7	1	3			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr15:51250862A>C	uc001zyx.1	+	14	1752	c.1722A>C	c.(1720-1722)TTA>TTC	p.L574F		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	574					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTGAGAGATTAATCCATGAAT	0.363													C	51250862	A	C	51250862	3	2	164	1	0	0	0	0	1	0	0	0	752	359	13	5	1776	5	AP4E1	15	51250862	Missense_Mutation	SNP	A	TCGA-CG-4304-01A-01D-1158-08		51250862	51280530	58	89127											
IGDCC4	57722	broad.mit.edu	37	chr15	65678955	65678955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggcccaggcagacaCccacgatgatgcccgtgact	13	13	0	4			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr15:65678955C>T	uc002aou.1	-	17	3095	c.2885G>A	c.(2884-2886)GGT>GAT	p.G962D	IGDCC4_uc002aot.1_Missense_Mutation_p.G550D	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	962	Helical; (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CAGGCAGACACCCACGATGAT	0.642											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65678955	C	T	65678955	3	4	164	1	0	0	0	0	1	0	0	0	7569	507	18	4	883	4	IGDCC4	15	65678955	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	14428093	65678955	36852437	59	89128											
IQGAP1	8826	broad.mit.edu	37	chr15	90984881	90984881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggatatactttaccagGctaagcaggacaaaatgaca	8	9	0	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr15:90984881G>A	uc002bpl.1	+	8	894	c.793G>A	c.(793-795)GCT>ACT	p.A265T		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	265					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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			ACTTTACCAGGCTAAGCAGGA	0.373													A	90984881	G	A	90984881	3	1	164	1	0	0	0	0	1	0	0	0	7814	1203	42	2	823	2	IQGAP1	15	90984881	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	25305926	90984881	11546511	60	89129											
CHD2	1106	broad.mit.edu	37	chr15	93567880	93567880	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcataggtctcctttggagaGatcactagaacagaaaaaca	8	8	3	3			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr15:93567880G>A	uc002bsp.2	+	39	6007	c.5432G>A	c.(5431-5433)AGA>AAA	p.R1811K		NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1811					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTTTGGAGAGATCACTAGAA	0.478													A	93567880	G	A	93567880	3	1	164	1	0	0	0	0	1	0	0	0	3325	942	33	4	5586	4	CHD2	15	93567880	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	2582999	93567880	8963512	61	89130											
C16orf11	146325	broad.mit.edu	37	chr16	614731	614731	+	Frame_Shift_Del	DEL	T	T	-													gacggggatccaggcggcccTgagacccccggccctgaggg							TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr16:614731delT	uc002chk.2	+	3	1419	c.1140delT	c.(1138-1140)CCTfs	p.P380fs	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	380	Pro-rich.									central_nervous_system(1)	1						CAGGCGGCCCTGAGACCCCCG	0.731													-	614731	T	-	614731	7	5	164	1	0	1	0	1	0	0	0	0	1810	1567	55	0	1146	0	C16orf11	16	614731	Frame_Shift_Del	DEL	T	TCGA-CG-4304-01A-01D-1158-08		614731	89740022	62	89131											
DNAH3	55567	broad.mit.edu	37	chr16	21031006	21031006	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgggccttgggtggttatCatccatgcccatgatcaggt	12	9	2	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr16:21031006C>G	uc010vbe.1	-	41	5962	c.5962G>C	c.(5962-5964)GAT>CAT	p.D1988H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1988					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GGGTGGTTATCATCCATGCCC	0.423													G	21031006	C	G	21031006	3	3	164	1	0	0	0	0	1	0	0	0	4603	826	29	5	6475	5	DNAH3	16	21031006	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	20416275	21031006	69323747	63	89132											
SRCAP	10847	broad.mit.edu	37	chr16	30715408	30715408	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggacggcatgacaggCagcaatcctgtgtcccctgc	13	13	0	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr16:30715408C>G	uc002dze.1	+	4	463	c.78C>G	c.(76-78)GGC>GGG	p.G26G	SRCAP_uc002dzf.2_RNA	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	26					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GCATGACAGGCAGCAATCCTG	0.418													G	30715408	C	G	30715408	2	3	164	1	0	0	0	0	0	0	0	1	15134	697	25	5		5	SRCAP	16	30715408	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	9684402	30715408	59639345	64	89133											
CNTNAP4	85445	broad.mit.edu	37	chr16	76572099	76572099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaaactccagctcccacGctgcttcatttcatggtgat	7	12	2	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr16:76572099G>A	uc002feu.1	+	21	3467	c.3082G>A	c.(3082-3084)GCT>ACT	p.A1028T	CNTNAP4_uc002fev.1_Missense_Mutation_p.A892T|CNTNAP4_uc010chb.1_Missense_Mutation_p.A955T|CNTNAP4_uc002fex.1_Missense_Mutation_p.A1031T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1028	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						CAGCTCCCACGCTGCTTCATT	0.363													A	76572099	G	A	76572099	3	1	164	1	0	0	0	0	1	0	0	0	3649	1087	38	1	3169	1	CNTNAP4	16	76572099	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	45856691	76572099	13782654	65	89134											
SPATA22	84690	broad.mit.edu	37	chr17	3349846	3349846	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caataactgcagaaataattCttaaagaactagctttttcc	4	8	1	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr17:3349846C>G	uc002fvm.2	-	7	959	c.722G>C	c.(721-723)AGA>ACA	p.R241T	SPATA22_uc010vrg.1_Missense_Mutation_p.R225T|SPATA22_uc010vrf.1_Missense_Mutation_p.R241T|SPATA22_uc002fvn.2_Missense_Mutation_p.R241T|SPATA22_uc002fvo.2_Missense_Mutation_p.R241T|SPATA22_uc002fvp.2_Missense_Mutation_p.R241T|SPATA22_uc010ckf.2_Missense_Mutation_p.R198T	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	241											0						AGAAATAATTCTTAAAGAACT	0.269													G	3349846	C	G	3349846	3	3	164	1	0	0	0	0	1	0	0	0	15007	913	32	5	381	5	SPATA22	17	3349846	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08		3349846	77845364	66	89135											
PCGF2	7703	broad.mit.edu	37	chr17	36895901	36895901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatggggcagtatttgttGgtctccaggtagcgcacgat	13	9	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr17:36895901G>A	uc002hqp.1	-	4	390	c.147C>T	c.(145-147)ACC>ACT	p.T49T	PCGF2_uc002hqn.1_Silent_p.T49T|PCGF2_uc002hqo.1_Silent_p.T49T|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Silent_p.T49T	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	49	RING-type.				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)|skin(1)	2	Breast(7;9.07e-22)					AGTATTTGTTGGTCTCCAGGT	0.607													A	36895901	G	A	36895901	2	1	164	1	0	0	0	0	0	0	0	1	11575	1335	47	4		4	PCGF2	17	36895901	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08	33546055	36895901	44299309	67	89136											
CDK12	51755	broad.mit.edu	37	chr17	37649112	37649112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggagaaggaacctatggCcaagtatataaagccaagga	11	6	0	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr17:37649112C>T	uc010cvv.2	+	4	2803	c.2217C>T	c.(2215-2217)GGC>GGT	p.G739G	CDK12_uc010wef.1_Silent_p.G738G|CDK12_uc002hrw.3_Silent_p.G739G	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	739	ATP (By similarity).|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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GAACCTATGGCCAAGTATATA	0.378										TCGA Ovarian(9;0.13)			T	37649112	C	T	37649112	2	4	164	1	0	0	0	0	0	0	0	1	3128	726	26	2		2	CDK12	17	37649112	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	753211	37649112	43546098	68	89137											
TRIM37	4591	broad.mit.edu	37	chr17	57109276	57109276	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgggctgcagaagtgaAgcaggtgggcgaggctgtaa	18	7	0	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr17:57109276A>T	uc002iwy.3	-	18	2373	c.1929T>A	c.(1927-1929)GCT>GCA	p.A643A	TRIM37_uc002iwz.3_Silent_p.A643A|TRIM37_uc002ixa.3_Silent_p.A521A|TRIM37_uc010woc.1_Silent_p.A609A	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	643						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCAGAAGTGAAGCAGGTGGGC	0.368									Mulibrey_Nanism				T	57109276	A	T	57109276	2	4	164	1	0	0	0	0	0	0	0	1	16508	59	3	5		5	TRIM37	17	57109276	Silent	SNP	A	TCGA-CG-4304-01A-01D-1158-08	19460164	57109276	24085934	69	89138											
EVI5L	115704	broad.mit.edu	37	chr19	7914143	7914143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttgttcccttctaggCatactcgctggtagaccggg	12	11	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr19:7914143C>T	uc002min.2	+	5	708	c.554C>T	c.(553-555)GCA>GTA	p.A185V	EVI5L_uc010xjz.1_Missense_Mutation_p.A185V|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	185	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CCCTTCTAGGCATACTCGCTG	0.652													T	7914143	C	T	7914143	3	4	164	1	0	0	0	0	1	0	0	0	5290	724	25	2	568	2	EVI5L	19	7914143	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08		7914143	51214840	70	89139											
LDLR	3949	broad.mit.edu	37	chr19	11218184	11218184	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcagatgaacccatcaaaGagtgcggtgagtctcggtgc	14	9	3	4			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr19:11218184G>T	uc002mqk.3	+	6	1102	c.934G>T	c.(934-936)GAG>TAG	p.E312*	LDLR_uc010xlk.1_Nonsense_Mutation_p.E312*|LDLR_uc010xll.1_Nonsense_Mutation_p.E271*|LDLR_uc010xlm.1_Nonsense_Mutation_p.E165*|LDLR_uc010xln.1_Nonsense_Mutation_p.E185*|LDLR_uc010xlo.1_Nonsense_Mutation_p.E144*	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	312	Extracellular (Potential).|LDL-receptor class A 7.				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			ovary(2)|skin(2)	4		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)	ACCCATCAAAGAGTGCGGTGA	0.552													T	11218184	G	T	11218184	4	4	164	1	0	0	0	0	0	1	0	0	8704	943	33	5	956	5	LDLR	19	11218184	Nonsense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	3304041	11218184	47910799	71	89140											
PSG1	5669	broad.mit.edu	37	chr19	43372329	43372329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagcaaacatagagcccGctatgctttgtagtaatatg	9	8	0	2	rs142917150		TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr19:43372329G>A	uc002ovb.2	-	5	1305	c.1167C>T	c.(1165-1167)AGC>AGT	p.S389S	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Silent_p.S389S|PSG1_uc010eio.1_Silent_p.S389S|PSG1_uc002oux.1_Silent_p.S318S|PSG1_uc002ouy.1_Silent_p.S296S|PSG1_uc002ouz.1_Silent_p.S389S|PSG1_uc002ova.1_Silent_p.S296S|PSG1_uc002ovc.2_Silent_p.S296S|PSG1_uc002ovd.1_Silent_p.S389S	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	389	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				CATAGAGCCCGCTATGCTTTG	0.468													A	43372329	G	A	43372329	2	1	164	1	0	0	0	0	0	0	0	1	12653	1078	38	1		1	PSG1	19	43372329	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08	32154145	43372329	15756654	72	89141											
LRRC4B	94030	broad.mit.edu	37	chr19	51021716	51021716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgaagttaagcgtgccGtcatgcaggacggagatgcg	16	7	1	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr19:51021716G>A	uc002pss.2	-	3	1391	c.1254C>T	c.(1252-1254)GAC>GAT	p.D418D		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	418	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TAAGCGTGCCGTCATGCAGGA	0.652													A	51021716	G	A	51021716	2	1	164	1	0	0	0	0	0	0	0	1	9007	1136	40	1		1	LRRC4B	19	51021716	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08	7649387	51021716	8107267	73	89142											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52148732	52148732	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagagggtctttcctacctGtgcctgtgccatttctgaag	11	10	2	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr19:52148732G>C	uc002pxf.3	-	4	872	c.752C>G	c.(751-753)ACA>AGA	p.T251R		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	251	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTCCTACCTGTGCCTGTGCC	0.552													C	52148732	G	C	52148732	3	2	164	1	0	0	0	0	1	0	0	0	14309	1377	48	5	454	5	SIGLEC14	19	52148732	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	1127016	52148732	6980251	74	89143											
HAS1	3036	broad.mit.edu	37	chr19	52220238	52220238	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacctagaggaccgctgatgCaggatacacagtggaagtag	13	8	0	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr19:52220238C>G	uc002pxo.1	-	3	946	c.911G>C	c.(910-912)TGC>TCC	p.C304S	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.C269S|HAS1_uc002pxn.1_Missense_Mutation_p.C311S|HAS1_uc002pxp.1_Missense_Mutation_p.C303S	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	304	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACCGCTGATGCAGGATACACA	0.507													G	52220238	C	G	52220238	3	3	164	1	0	0	0	0	1	0	0	0	6961	710	25	5	837	5	HAS1	19	52220238	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	71506	52220238	6908745	75	89144											
OTOR	56914	broad.mit.edu	37	chr20	16730657	16730657	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggaagttcccaccacggTaagcatctcaaaagtgacta	8	11	1	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr20:16730657T>C	uc002wpj.2	+	3	407	c.363_splice	c.e3+2	p.T121_splice	OTOR_uc002wpk.2_Splice_Site	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor						sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						CCCACCACGGTAAGCATCTCA	0.483													C	16730657	T	C	16730657	5	2	164	1	0	0	0	0	0	0	1	0	11308	1652	57	3	375	3	OTOR	20	16730657	Splice_Site	SNP	T	TCGA-CG-4304-01A-01D-1158-08		16730657	46294863	76	89145											
CST8	10047	broad.mit.edu	37	chr20	23472436	23472436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatgcctcaaatgccaaCgtgaagcagtgtctgtggtt	11	9	3	1	rs150145986		TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr20:23472436C>T	uc002wth.1	+	2	489	c.132C>T	c.(130-132)AAC>AAT	p.N44N		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	44						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAAATGCCAACGTGAAGCAGT	0.507													T	23472436	C	T	23472436	2	4	164	1	0	0	0	0	0	0	0	1	3978	535	19	1		1	CST8	20	23472436	Silent	SNP	C	TCGA-CG-4304-01A-01D-1158-08	6741779	23472436	39553084	77	89146											
PTGIS	5740	broad.mit.edu	37	chr20	48124559	48124559	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggatctccacatctgcgttGatcagctccaagtccaagtg	10	12	3	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr20:48124559G>C	uc002xut.2	-	10	1455	c.1401C>G	c.(1399-1401)ATC>ATG	p.I467M	PTGIS_uc010zyi.1_Missense_Mutation_p.I328M	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	467					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			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CATCTGCGTTGATCAGCTCCA	0.577													C	48124559	G	C	48124559	3	2	164	1	0	0	0	0	1	0	0	0	12752	1280	45	5	105	5	PTGIS	20	48124559	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	24652123	48124559	14900961	78	89147											
KCNJ6	3763	broad.mit.edu	37	chr21	39086934	39086934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgacaatggaccccaacaCagattggattaagagaagaa	9	7	0	4			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr21:39086934C>T	uc011aej.1	-	3	579	c.526G>A	c.(526-528)GTG>ATG	p.V176M	KCNJ6_uc002ywo.2_Missense_Mutation_p.V176M	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	176	Helical; Name=M2; (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	GACCCCAACACAGATTGGATT	0.433													T	39086934	C	T	39086934	3	4	164	1	0	0	0	0	1	0	0	0	8055	478	17	4	753	4	KCNJ6	21	39086934	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08		39086934	9042961	79	89148											
MCM3AP	8888	broad.mit.edu	37	chr21	47664820	47664820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccagtgcaggtgaggaaGcagccggctgccccctgcct	13	14	0	1			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr21:47664820G>A	uc002zir.1	-	23	4975	c.4939C>T	c.(4939-4941)CTT>TTT	p.L1647F	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.L142F|MCM3AP_uc002zip.1_Missense_Mutation_p.L388F|MCM3AP_uc002ziq.1_Missense_Mutation_p.L574F|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1647					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AGGTGAGGAAGCAGCCGGCTG	0.632													A	47664820	G	A	47664820	3	1	164	1	0	0	0	0	1	0	0	0	9388	971	34	2	1027	2	MCM3AP	21	47664820	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08	8577886	47664820	465075	80	89149											
SUSD2	56241	broad.mit.edu	37	chr22	24583266	24583266	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcccgttcctgagtgTgtccgtcctgctgcctgaga	14	13	0	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr22:24583266T>G	uc002zzn.1	+	11	1783	c.1739T>G	c.(1738-1740)GTG>GGG	p.V580G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	580	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TTCCTGAGTGTGTCCGTCCTG	0.662													G	24583266	T	G	24583266	3	3	164	1	0	0	0	0	1	0	0	0	15405	1696	59	5	1781	5	SUSD2	22	24583266	Missense_Mutation	SNP	T	TCGA-CG-4304-01A-01D-1158-08		24583266	26721300	81	89150											
ACO2	50	broad.mit.edu	37	chr22	41923306	41923306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagaaacatggcatcagGtgggtggtgatcggagacga	16	6	1	4			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr22:41923306G>A	uc003bac.2	+	16	1990	c.1968G>A	c.(1966-1968)AGG>AGA	p.R656R	ACO2_uc003bad.2_Silent_p.R681R|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	656					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(2)|ovary(1)|lung(1)	4						ATGGCATCAGGTGGGTGGTGA	0.637											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	41923306	G	A	41923306	2	1	164	1	0	0	0	0	0	0	0	1	147	1252	44	4		4	ACO2	22	41923306	Silent	SNP	G	TCGA-CG-4304-01A-01D-1158-08	17340040	41923306	9381260	82	89151											
PKDREJ	10343	broad.mit.edu	37	chr22	46658193	46658193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attagctgttatgttggcatCgccaagcatcaccgcctgca	9	12	1	0			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chr22:46658193C>T	uc003bhh.2	-	1	1027	c.1027G>A	c.(1027-1029)GAT>AAT	p.D343N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	343	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGTTGGCATCGCCAAGCATC	0.572													T	46658193	C	T	46658193	3	4	164	1	0	0	0	0	1	0	0	0	11970	884	31	1	5738	1	PKDREJ	22	46658193	Missense_Mutation	SNP	C	TCGA-CG-4304-01A-01D-1158-08	4734887	46658193	4646373	83	89152											
CYLC1	1538	broad.mit.edu	37	chrX	83128123	83128123	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agattccaagaaaaaaggagGttcatatgcaacaaatccag	8	7	1	2			TCGA-CG-4304-01A-01D-1158-08	TCGA-CG-4304-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb2c02fb-8044-4ead-b526-a4967c300a77	515dd0bb-8739-48bb-bc81-b3d40f6992cb	g.chrX:83128123G>C	uc004eei.1	+	4	428	c.407G>C	c.(406-408)GGT>GCT	p.G136A	CYLC1_uc004eeh.1_Missense_Mutation_p.G135A	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	136					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						AAAAAAGGAGGTTCATATGCA	0.318													C	83128123	G	C	83128123	3	2	164	1	0	0	0	0	1	0	0	0	4141	1261	44	5	421	5	CYLC1	23	83128123	Missense_Mutation	SNP	G	TCGA-CG-4304-01A-01D-1158-08		83128123	72142437	84	89153											
FAM132A	388581	broad.mit.edu	37	chr1	1179802	1179802	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgcttccttaaggcgcCgtcgtccggccgccggacaa	12	17	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:1179802C>G	uc001adl.1	-	2	285	c.253G>C	c.(253-255)GGC>CGC	p.G85R		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	85						extracellular region					0	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)		CTTAAGGCGCCGTCGTCCGGC	0.677													G	1179802	C	G	1179802	3	3	165	1	0	0	0	0	1	0	0	0	5442	652	23	5	683	5	FAM132A	1	1179802	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08		1179802	248070819	1	89154											
UBE2J2	118424	broad.mit.edu	37	chr1	1190787	1190787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgaggtgcgtctccccGtctggaaccacgtctggcaa	13	13	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:1190787G>A	uc001adn.2	-	7	886	c.576C>T	c.(574-576)GAC>GAT	p.D192D	UBE2J2_uc001adm.2_Silent_p.D157D|UBE2J2_uc001ado.2_Silent_p.D208D|UBE2J2_uc001adp.2_Silent_p.D192D|UBE2J2_uc001adq.2_Silent_p.D140D|UBE2J2_uc001adr.2_Silent_p.D140D|UBE2J2_uc001ads.2_Silent_p.D140D	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	192	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GCGTCTCCCCGTCTGGAACCA	0.587													A	1190787	G	A	1190787	2	1	165	1	0	0	0	0	0	0	0	1	16858	1136	40	1		1	UBE2J2	1	1190787	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	10985	1190787	248059834	2	89155											
KIAA0562	9731	broad.mit.edu	37	chr1	3732035	3732035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggggatcttgcttccGgcctttgaccccaaggggcc	16	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:3732035G>A	uc001aky.2	-	22	3068	c.2709C>T	c.(2707-2709)GCC>GCT	p.A903A	KIAA0562_uc010nzm.1_RNA	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	903						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		TCTTGCTTCCGGCCTTTGACC	0.642													A	3732035	G	A	3732035	2	1	165	1	0	0	0	0	0	0	0	1	8184	1103	39	1		1	KIAA0562	1	3732035	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2541248	3732035	245518586	3	89156											
PLEKHG5	57449	broad.mit.edu	37	chr1	6537676	6537676	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcgcagaggttgagggGcccccggcggtgcagctgct	18	13	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:6537676G>C	uc001ano.1	-	3	225	c.124C>G	c.(124-126)CCC>GCC	p.P42A	PLEKHG5_uc001ann.1_Missense_Mutation_p.P23A|PLEKHG5_uc001anq.1_Missense_Mutation_p.P63A|PLEKHG5_uc001anp.1_Missense_Mutation_p.P63A|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P55A|PLEKHG5_uc001ank.1_5'UTR|PLEKHG5_uc009vmb.1_5'UTR|PLEKHG5_uc001anl.1_5'UTR|PLEKHG5_uc001anm.1_5'UTR	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	42					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)		AGGTTGAGGGGCCCCCGGCGG	0.632													C	6537676	G	C	6537676	3	2	165	1	0	0	0	0	1	0	0	0	12073	1203	42	5	3144	5	PLEKHG5	1	6537676	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2805641	6537676	242712945	4	89157											
ENO1	2023	broad.mit.edu	37	chr1	8922984	8922984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccaagcgctcagatcgGcaaggggcaccagtcttgat	13	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:8922984G>A	uc001apj.1	-	11	1348	c.1197C>T	c.(1195-1197)TGC>TGT	p.C399C	ENO1_uc001api.1_Silent_p.C303C|ENO1_uc001apk.1_Silent_p.C344C|ENO1_uc001apl.1_Intron|ENO1_uc009vmi.1_Silent_p.C356C|ENO1_uc009vmj.1_Intron|ENO1_uc009vmk.1_Silent_p.C273C	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	399					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			ovary(2)|kidney(1)|central_nervous_system(1)	4	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)		GCTCAGATCGGCAAGGGGCAC	0.562											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	8922984	G	A	8922984	2	1	165	1	0	0	0	0	0	0	0	1	5121	1195	42	2		2	ENO1	1	8922984	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2385308	8922984	240327637	5	89158											
SPEN	23013	broad.mit.edu	37	chr1	16256697	16256697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaggagagaacagatggCagatatggccaaaataaaac	11	6	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:16256697C>T	uc001axk.1	+	11	4166	c.3962C>T	c.(3961-3963)GCA>GTA	p.A1321V	SPEN_uc010obp.1_Missense_Mutation_p.A1280V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1321					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GAACAGATGGCAGATATGGCC	0.378													T	16256697	C	T	16256697	3	4	165	1	0	0	0	0	1	0	0	0	15037	710	25	2	4004	2	SPEN	1	16256697	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7333713	16256697	232993924	6	89159											
SPEN	23013	broad.mit.edu	37	chr1	16259137	16259137	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggaggatggtttatcAtcccagttgaaaagtgatcc	10	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:16259137A>G	uc001axk.1	+	11	6606	c.6402A>G	c.(6400-6402)TCA>TCG	p.S2134S	SPEN_uc010obp.1_Silent_p.S2093S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2134	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			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		ATGGTTTATCATCCCAGTTGA	0.567													G	16259137	A	G	16259137	2	3	165	1	0	0	0	0	0	0	0	1	15037	204	8	3		3	SPEN	1	16259137	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2440	16259137	232991484	7	89160											
CROCC	9696	broad.mit.edu	37	chr1	17250929	17250929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggcccagagccgtgcCgagcgcgatgagctcgccat	14	15	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:17250929C>T	uc001azt.2	+	3	375	c.306C>T	c.(304-306)GCC>GCT	p.A102A	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	102	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		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)		AGAGCCGTGCCGAGCGCGATG	0.662													T	17250929	C	T	17250929	2	4	165	1	0	0	0	0	0	0	0	1	3893	639	23	1		1	CROCC	1	17250929	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	991792	17250929	231999692	8	89161											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17958909	17958909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctaattaagtccaaggagCgtcgggtcttcctgctcaac	10	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:17958909C>A	uc001ban.2	+	16	1837	c.1678C>A	c.(1678-1680)CGT>AGT	p.R560S	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R521S|ARHGEF10L_uc001bao.2_Missense_Mutation_p.R521S|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R521S|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.R318S|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R326S|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R338S|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R268S|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	560					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		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)		GTCCAAGGAGCGTCGGGTCTT	0.597													A	17958909	C	A	17958909	3	1	165	1	0	0	0	0	1	0	0	0	895	768	27	5	1736	5	ARHGEF10L	1	17958909	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	707980	17958909	231291712	9	89162											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807675	18807675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggctcagggcagcctgCtgtacaggaggcttctcctg	15	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:18807675C>T	uc001bax.2	+	1	252	c.200C>T	c.(199-201)GCT>GTT	p.A67V	KLHDC7A_uc009vpg.2_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	67						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		GGGCAGCCTGCTGTACAGGAG	0.652													T	18807675	C	T	18807675	3	4	165	1	0	0	0	0	1	0	0	0	8360	797	28	2	202	2	KLHDC7A	1	18807675	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	848766	18807675	230442946	10	89163											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809031	18809031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgagcaggatgtctggcGcccgctggctcgcatgcccc	14	15	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:18809031G>A	uc001bax.2	+	1	1608	c.1556G>A	c.(1555-1557)CGC>CAC	p.R519H	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R301H	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	519	Kelch 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		GATGTCTGGCGCCCGCTGGCT	0.682													A	18809031	G	A	18809031	3	1	165	1	0	0	0	0	1	0	0	0	8360	1087	38	1	1558	1	KLHDC7A	1	18809031	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1356	18809031	230441590	11	89164											
HTR6	3362	broad.mit.edu	37	chr1	19992413	19992413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatctgcactcagcccgCgctgcgcaacacgtccaact	8	18	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:19992413C>T	uc001bcl.2	+	1	634	c.167C>T	c.(166-168)GCG>GTG	p.A56V		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	56	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		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)	ACTCAGCCCGCGCTGCGCAAC	0.547													T	19992413	C	T	19992413	3	4	165	1	0	0	0	0	1	0	0	0	7451	768	27	1	169	1	HTR6	1	19992413	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1183382	19992413	229258208	12	89165											
MUL1	79594	broad.mit.edu	37	chr1	20827514	20827514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagccaaaaaccagcgccAgcaccttccagagcctgacg	8	16	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:20827514A>G	uc001bdi.3	-	4	885	c.728T>C	c.(727-729)CTG>CCG	p.L243P		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	243	Helical; (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AACCAGCGCCAGCACCTTCCA	0.592													G	20827514	A	G	20827514	3	3	165	1	0	0	0	0	1	0	0	0	9984	188	7	3	334	3	MUL1	1	20827514	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	835101	20827514	228423107	13	89166											
SH2D5	400745	broad.mit.edu	37	chr1	21052443	21052443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcccacaaagaggtgGcagaagagcttgctggctgg	16	9	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:21052443G>A	uc001bdt.1	-	4	733	c.108C>T	c.(106-108)TGC>TGT	p.C36C	SH2D5_uc009vpy.1_Silent_p.C120C|SH2D5_uc001bdu.1_Intron	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	36											0		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)		CAAAGAGGTGGCAGAAGAGCT	0.652													A	21052443	G	A	21052443	2	1	165	1	0	0	0	0	0	0	0	1	14237	1195	42	2		2	SH2D5	1	21052443	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	224929	21052443	228198178	14	89167											
EPHB2	2048	broad.mit.edu	37	chr1	23208888	23208888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgcatcaggtgagccGcaccgtggacagcattaccc	10	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:23208888G>A	uc009vqj.1	+	6	1485	c.1340G>A	c.(1339-1341)CGC>CAC	p.R447H	EPHB2_uc001bge.2_Missense_Mutation_p.R447H|EPHB2_uc001bgf.2_Missense_Mutation_p.R447H|EPHB2_uc010odu.1_Missense_Mutation_p.R447H	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	447	Fibronectin type-III 2.|Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		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)		CAGGTGAGCCGCACCGTGGAC	0.592									Hereditary_Prostate_Cancer				A	23208888	G	A	23208888	3	1	165	1	0	0	0	0	1	0	0	0	5175	1087	38	1	1362	1	EPHB2	1	23208888	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2156445	23208888	226041733	15	89168											
TCEB3	6924	broad.mit.edu	37	chr1	24083458	24083458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggatcaagccagccccGtaccccatgggaagcagcca	11	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:24083458G>A	uc001bho.2	+	10	2238	c.2178G>A	c.(2176-2178)CCG>CCA	p.P726P		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	726					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			ovary(1)	1		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)		AGCCAGCCCCGTACCCCATGG	0.582													A	24083458	G	A	24083458	2	1	165	1	0	0	0	0	0	0	0	1	15678	1132	40	1		1	TCEB3	1	24083458	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	874570	24083458	225167163	16	89169											
SRRM1	10250	broad.mit.edu	37	chr1	24989225	24989225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatggtgaggttggcaggCggcggagacattccccttcc	15	10	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:24989225C>T	uc001bjm.2	+	12	1782	c.1558C>T	c.(1558-1560)CGG>TGG	p.R520W	SRRM1_uc010oel.1_Missense_Mutation_p.R518W|SRRM1_uc009vrh.1_Missense_Mutation_p.R479W|SRRM1_uc009vri.1_Missense_Mutation_p.R435W|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	520	Necessary for speckles and matrix localization.|Arg-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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		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)		GGTTGGCAGGCGGCGGAGACA	0.478													T	24989225	C	T	24989225	3	4	165	1	0	0	0	0	1	0	0	0	15167	759	27	1	1604	1	SRRM1	1	24989225	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	905767	24989225	224261396	17	89170											
LIN28A	79727	broad.mit.edu	37	chr1	26751934	26751934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattgggagtgagaggcgGccaaaaggaaagagcatgca	16	5	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:26751934G>A	uc001bmj.2	+	3	483	c.369G>A	c.(367-369)CGG>CGA	p.R123R	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	123					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)	1						GTGAGAGGCGGCCAAAAGGAA	0.512													A	26751934	G	A	26751934	2	1	165	1	0	0	0	0	0	0	0	1	8805	1190	42	2		2	LIN28A	1	26751934	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1762709	26751934	222498687	18	89171											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	165	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	353997	27105931	222144690	19	89172											
WASF2	10163	broad.mit.edu	37	chr1	27744891	27744891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatggtggaacttctgaAggcttttcgggtgttgattc	13	5	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27744891A>T	uc001bof.1	-	4	514	c.298T>A	c.(298-300)TTC>ATC	p.F100I	WASF2_uc010ofl.1_Missense_Mutation_p.F100I	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	100					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		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)		GAACTTCTGAAGGCTTTTCGG	0.463													T	27744891	A	T	27744891	3	4	165	1	0	0	0	0	1	0	0	0	17250	72	3	5	1222	5	WASF2	1	27744891	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	638960	27744891	221505730	20	89173											
AHDC1	27245	broad.mit.edu	37	chr1	27873977	27873977	+	Frame_Shift_Del	DEL	G	G	-													agcagcgagtccctcggcacGggggacagggtcaagtcact							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27873976_27873976CG>C	uc021ojw.1	-	0	4651	c.4651_4651CG>G	c.(4651-4653)gtgfs	p.V1551fs	AHDC1_uc009vsy.3_Frame_Shift_Del_p.V1551fs|AHDC1_uc009vsz.1_Frame_Shift_Del_p.V1551fs	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1551							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)		TCCCTCGGCACGGGGGACAGG	0.701													-	27873977	G	-	27873977	7	5	165	1	0	1	0	1	0	0	0	0	412	1103	39	0	165	0	AHDC1	1	27873977	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	129086	27873977	221376644	21	89174											
AHDC1	27245	broad.mit.edu	37	chr1	27875066	27875066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcactacttgaggcctcGctgttggcacgccgaaaccc	9	17	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:27875066G>A	uc009vsy.2	-	6	4530	c.3561C>T	c.(3559-3561)AGC>AGT	p.S1187S	AHDC1_uc009vsz.1_Silent_p.S1187S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1187							DNA binding			central_nervous_system(1)	1		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)		TTGAGGCCTCGCTGTTGGCAC	0.607													A	27875066	G	A	27875066	2	1	165	1	0	0	0	0	0	0	0	1	412	1078	38	1		1	AHDC1	1	27875066	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1089	27875066	221375555	22	89175											
RPA2	6118	broad.mit.edu	37	chr1	28218705	28218705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggatttaaaatggtcaTcatccacagtagaatagatg	9	6	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:28218705T>G	uc001bpe.1	-	9	1064	c.782A>C	c.(781-783)GAT>GCT	p.D261A	RPA2_uc001bpd.1_Missense_Mutation_p.D269A|RPA2_uc010ofp.1_Missense_Mutation_p.D165A	NM_002946	NP_002937	P15927	RFA2_HUMAN	replication protein A2, 32kDa	261	Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).				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			skin(1)	1		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)		AAAATGGTCATCATCCACAGT	0.403								Direct_reversal_of_damage|NER					G	28218705	T	G	28218705	3	3	165	1	0	0	0	0	1	0	0	0	13537	1435	50	5	34	5	RPA2	1	28218705	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	343639	28218705	221031916	23	89176											
YTHDF2	51441	broad.mit.edu	37	chr1	29069581	29069581	+	Frame_Shift_Del	DEL	C	C	-													cagggtcaagtcttccgccaCccccgataaagcataacatg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:29069580_29069580AC>A	uc021okf.1	+	4	1061	c.798_798AC>A	c.(796-798)ccafs	p.P266fs	YTHDF2_uc001brc.3_Frame_Shift_Del_p.P266fs|YTHDF2_uc010ofx.2_Frame_Shift_Del_p.P216fs|YTHDF2_uc001bre.3_Frame_Shift_Del_p.P216fs	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	266					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-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)		GTCTTCCGCCACCCCCGATAA	0.483													-	29069581	C	-	29069581	7	5	165	1	0	1	0	1	0	0	0	0	17496	507	18	0	813	0	YTHDF2	1	29069581	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	850876	29069581	220181040	24	89177											
PTPRU	10076	broad.mit.edu	37	chr1	29638251	29638251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggctgagtatgtcgtgCgcacttttgccctggagcgg	14	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:29638251C>T	uc001bru.2	+	22	3192	c.3082C>T	c.(3082-3084)CGC>TGC	p.R1028C	PTPRU_uc001brv.2_Missense_Mutation_p.R1024C|PTPRU_uc001brw.2_Missense_Mutation_p.R1018C|PTPRU_uc009vtq.2_Missense_Mutation_p.R1024C|PTPRU_uc009vtr.2_Missense_Mutation_p.R1015C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1028	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		GTATGTCGTGCGCACTTTTGC	0.602													T	29638251	C	T	29638251	3	4	165	1	0	0	0	0	1	0	0	0	12813	768	27	1	3190	1	PTPRU	1	29638251	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	568670	29638251	219612370	25	89178											
ZMYM4	9202	broad.mit.edu	37	chr1	35836080	35836081	+	Frame_Shift_Ins	INS	-	-	A													agtttcctgttctggttgtaINSaaaaaatcctccagaagggg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:35836079_35836080T>TA	uc001byt.3	+	6	1112_1113	c.1032_1033T>TA	c.(1030-1035)tgtaaafs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Ins_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Ins_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Ins_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCCT	0.48													A	35836081	-	A	35836080	7	5	165	1	0	1	1	0	0	0	0	0	17699	363	13	0	1059	0	ZMYM4	1	35836080	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	6197829	35836080	213414541	26	89179											
NCDN	23154	broad.mit.edu	37	chr1	36028856	36028856	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgggccccgggagaTcctgatcaaggaaggggccc	16	10	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:36028856T>A	uc001bza.2	+	6	1566	c.1439T>A	c.(1438-1440)ATC>AAC	p.I480N	NCDN_uc001bzb.2_Missense_Mutation_p.I480N|NCDN_uc001bzc.2_Missense_Mutation_p.I463N	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	480					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCGGGAGATCCTGATCAAG	0.612													A	36028856	T	A	36028856	3	1	165	1	0	0	0	0	1	0	0	0	10214	1435	50	5	1457	5	NCDN	1	36028856	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	192776	36028856	213221765	27	89180											
STK40	83931	broad.mit.edu	37	chr1	36823959	36823960	+	Frame_Shift_Ins	INS	-	-	C													tggctctctatgccttggtcINSccccctctcctccagggtca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:36823958_36823959T>TC	uc001cak.1	-	4	630_631	c.223_224A>GA	c.(223-225)gacfs	p.D75fs	STK40_uc001cal.1_Frame_Shift_Ins_p.D80fs|STK40_uc001cam.1_Frame_Shift_Ins_p.D75fs|STK40_uc001can.1_Frame_Shift_Ins_p.D75fs	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	75	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TATGCCTTGGTCCCCCCTCTCC	0.54													C	36823960	-	C	36823959	7	5	165	1	0	1	1	0	0	0	0	0	15306	855	30	0	1116	0	STK40	1	36823959	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	795103	36823959	212426662	28	89181											
CSF3R	1441	broad.mit.edu	37	chr1	36932116	36932116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggttctcataggactTggggctgggggtgaggcccg	18	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:36932116T>C	uc001caw.1	-	17	2531	c.2353A>G	c.(2353-2355)AAG>GAG	p.K785E	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Missense_Mutation_p.K347E|CSF3R_uc009vvc.1_Missense_Mutation_p.K314E|CSF3R_uc001cau.1_Missense_Mutation_p.K185E|CSF3R_uc001cav.1_Intron|CSF3R_uc001cax.1_Missense_Mutation_p.K812E|CSF3R_uc001cay.1_Silent_p.P753P	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	785	Cytoplasmic (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCATAGGACTTGGGGCTGGGG	0.647													C	36932116	T	C	36932116	3	2	165	1	0	0	0	0	1	0	0	0	3937	1821	63	3	270	3	CSF3R	1	36932116	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	108157	36932116	212318505	29	89182											
MTF1	4520	broad.mit.edu	37	chr1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttttcccctgtatgagttCgaatgtgcttcctcagatca	8	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:38304324C>T	uc001cce.1	-	4	893	c.752G>A	c.(751-753)CGA>CAA	p.R251Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251	C2H2-type 4.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTATGAGTTCGAATGTGCTT	0.438													T	38304324	C	T	38304324	3	4	165	1	0	0	0	0	1	0	0	0	9922	884	31	1	1541	1	MTF1	1	38304324	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1372208	38304324	210946297	30	89183											
RLF	6018	broad.mit.edu	37	chr1	40702626	40702626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctatagattgctatgCtaggtttggatcagtaaatg	10	4	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:40702626C>T	uc001cfc.3	+	8	2283	c.2252C>T	c.(2251-2253)GCT>GTT	p.A751V	RLF_uc001cfd.3_Missense_Mutation_p.A442V	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	751	C2H2-type 4.				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			ovary(2)|pancreas(1)	3	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)			GATTGCTATGCTAGGTTTGGA	0.383													T	40702626	C	T	40702626	3	4	165	1	0	0	0	0	1	0	0	0	13389	797	28	2	2282	2	RLF	1	40702626	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2398302	40702626	208547995	31	89184											
SMAP2	64744	broad.mit.edu	37	chr1	40880951	40880951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctttctagatgctccTgtggcctgctccattgcaaa	7	13	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:40880951T>C	uc001cfj.2	+	7	644	c.579T>C	c.(577-579)CCT>CCC	p.P193P	SMAP2_uc010ojh.1_Silent_p.P193P|SMAP2_uc001cfk.2_Silent_p.P163P|SMAP2_uc010oji.1_Silent_p.P110P|SMAP2_uc010ojj.1_Silent_p.P9P	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	193	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|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;1.04e-17)			TAGATGCTCCTGTGGCCTGCT	0.458													C	40880951	T	C	40880951	2	2	165	1	0	0	0	0	0	0	0	1	14767	1567	55	3		3	SMAP2	1	40880951	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	178325	40880951	208369670	32	89185											
ZNF642	339559	broad.mit.edu	37	chr1	40961306	40961306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaaccttttacttgcAatgaatgtgggaaaaccttt	9	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:40961306A>G	uc001cfo.2	+	6	1450	c.1156A>G	c.(1156-1158)AAT>GAT	p.N386D	ZNF642_uc009vwb.2_Missense_Mutation_p.N386D|ZNF642_uc010ojk.1_Missense_Mutation_p.N387D	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	386	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;8.81e-19)			TTTTACTTGCAATGAATGTGG	0.393													G	40961306	A	G	40961306	3	3	165	1	0	0	0	0	1	0	0	0	18055	130	5	3	1174	3	ZNF642	1	40961306	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	80355	40961306	208289315	33	89186											
RIMKLA	284716	broad.mit.edu	37	chr1	42880544	42880544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgaactgggagagatcCgggattcctcagcaagcaca	12	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:42880544C>T	uc001chi.2	+	5	1213	c.1075C>T	c.(1075-1077)CGG>TGG	p.R359W		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	359					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GGGAGAGATCCGGGATTCCTC	0.527													T	42880544	C	T	42880544	3	4	165	1	0	0	0	0	1	0	0	0	13365	643	23	1	1093	1	RIMKLA	1	42880544	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1919238	42880544	206370077	34	89187											
ZMYND12	84217	broad.mit.edu	37	chr1	42915622	42915622	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcaggccatgctgCcgttcttcctctgaattgta	10	12	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:42915622C>A	uc001chj.2	-	2	489	c.219G>T	c.(217-219)CGG>CGT	p.R73R	ZMYND12_uc010ojt.1_Missense_Mutation_p.A21S	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12 isoform 1	73						intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCATGCTGCCGTTCTTCCT	0.542													A	42915622	C	A	42915622	2	1	165	1	0	0	0	0	0	0	0	1	17704	739	26	5		5	ZMYND12	1	42915622	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	35078	42915622	206334999	35	89188											
CCDC30	728621	broad.mit.edu	37	chr1	43002166	43002166	+	Frame_Shift_Del	DEL	A	A	-													gatcctgaaaatgagccaagAaaaaaatgaaatgtttgaaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:43002165_43002165GA>G	uc009vwk.1	+	1	120	c.10_10GA>G	c.(10-12)gaafs	p.E4fs	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Frame_Shift_Del_p.E4fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	4										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AATGAGCCAAGAAAAAAATGA	0.333													-	43002166	A	-	43002166	7	5	165	1	0	1	0	1	0	0	0	0	2805	246	9	0	13	0	CCDC30	1	43002166	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	86544	43002166	206248455	36	89189											
CLDN19	149461	broad.mit.edu	37	chr1	43204130	43204130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccccggcgatggcaacaCggcccttggcaatggggttg	14	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:43204130C>T	uc001cht.1	-	2	541	c.350G>A	c.(349-351)CGT>CAT	p.R117H	CLDN19_uc001chu.2_Missense_Mutation_p.R117H|CLDN19_uc010ojv.1_Missense_Mutation_p.R117H	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	117	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGCAACACGGCCCTTGGC	0.642													T	43204130	C	T	43204130	3	4	165	1	0	0	0	0	1	0	0	0	3480	536	19	1	456	1	CLDN19	1	43204130	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	201964	43204130	206046491	37	89190											
ARTN	9048	broad.mit.edu	37	chr1	44401350	44401350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaacttggacttggaggcCtctccacgctgtcccactgc	11	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:44401350C>A	uc001cks.2	+	3	804	c.22C>A	c.(22-24)CTC>ATC	p.L8I	ARTN_uc001ckv.2_Missense_Mutation_p.L8I|ARTN_uc001ckt.2_Missense_Mutation_p.L8I|ARTN_uc001cku.2_Missense_Mutation_p.L8I|ARTN_uc001ckw.2_5'Flank	NM_057091	NP_476432	Q5T4W7	ARTN_HUMAN	neurotrophic factor artemin isoform 1 precursor	8					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTTGGAGGCCTCTCCACGCT	0.577													A	44401350	C	A	44401350	3	1	165	1	0	0	0	0	1	0	0	0	1001	681	24	5	24	5	ARTN	1	44401350	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1197220	44401350	204849271	38	89191											
IPO13	9670	broad.mit.edu	37	chr1	44433043	44433043	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctttgccgatatcctgttCgccctgaacaagcactgctt	8	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:44433043C>T	uc001ckx.2	+	19	3465	c.2670C>T	c.(2668-2670)TTC>TTT	p.F890F	IPO13_uc001cky.2_Silent_p.F108F	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	890					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATATCCTGTTCGCCCTGAACA	0.627													T	44433043	C	T	44433043	2	4	165	1	0	0	0	0	0	0	0	1	7794	883	31	1		1	IPO13	1	44433043	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	31693	44433043	204817578	39	89192											
HECTD3	79654	broad.mit.edu	37	chr1	45473119	45473119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattcttgcaggcagggtctCgagaggggcaggcacggtgt	17	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:45473119C>T	uc009vxk.2	-	10	1567	c.1469G>A	c.(1468-1470)CGA>CAA	p.R490Q	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.R100Q|HECTD3_uc010olh.1_Missense_Mutation_p.R206Q	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	490					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					GGCAGGGTCTCGAGAGGGGCA	0.602													T	45473119	C	T	45473119	3	4	165	1	0	0	0	0	1	0	0	0	7041	884	31	1	1164	1	HECTD3	1	45473119	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1040076	45473119	203777502	40	89193											
NSUN4	387338	broad.mit.edu	37	chr1	46826501	46826501	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaagtgcagcttcttgcGtgagtgacagatttttaaac	10	8	1	3	rs142333016	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:46826501G>A	uc001cpr.1	+	5	987	c.878_splice	c.e5+1	p.A293_splice	NSUN4_uc010omc.1_Splice_Site_p.A244_splice|NSUN4_uc009vyf.1_Splice_Site_p.A142_splice|NSUN4_uc009vyg.1_Splice_Site_p.A244_splice|NSUN4_uc001cpt.1_Splice_Site|NSUN4_uc001cps.1_Splice_Site	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	NOL1/NOP2/Sun domain family 4 protein								methyltransferase activity				0	Acute lymphoblastic leukemia(166;0.155)					AGCTTCTTGCGTGAGTGACAG	0.498													A	46826501	G	A	46826501	5	1	165	1	0	0	0	0	0	0	1	0	10680	1159	40	1	897	1	NSUN4	1	46826501	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1353382	46826501	202424120	41	89194											
CYP4Z1	199974	broad.mit.edu	37	chr1	47534426	47534426	+	Frame_Shift_Del	DEL	A	A	-													actatgccaagattctcctgAaaagacaaggtaaaaaccaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:47534425_47534425GA>G	uc001cqu.1	+	1	312	c.309_309GA>G	c.(307-309)ctgfs	p.L103fs		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	103						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						AGATTCTCCTGAAAAGACAAG	0.478													-	47534426	A	-	47534426	7	5	165	1	0	1	0	1	0	0	0	0	4194	247	9	0	316	0	CYP4Z1	1	47534426	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	707925	47534426	201716195	42	89195											
CYP4Z1	199974	broad.mit.edu	37	chr1	47564887	47564887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttactgcttggcaaagtAccctgagcatcagcagagat	9	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:47564887A>G	uc001cqu.1	+	8	1001	c.998A>G	c.(997-999)TAC>TGC	p.Y333C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	333	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						TTGGCAAAGTACCCTGAGCAT	0.468													G	47564887	A	G	47564887	3	3	165	1	0	0	0	0	1	0	0	0	4194	391	14	3	1028	3	CYP4Z1	1	47564887	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	30461	47564887	201685734	43	89196											
ORC1L	4998	broad.mit.edu	37	chr1	52849543	52849543	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcctgaggtgaccctcGggtgcagaattgctttgcca	13	10	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:52849543G>A	uc001ctt.2	-	12	2041	c.1822C>T	c.(1822-1824)CGA>TGA	p.R608*	ORC1L_uc010oni.1_Nonsense_Mutation_p.R603*|ORC1L_uc001ctu.2_Nonsense_Mutation_p.R608*|ORC1L_uc009vzd.2_Nonsense_Mutation_p.R362*	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	608	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|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	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GGTGACCCTCGGGTGCAGAAT	0.542													A	52849543	G	A	52849543	4	1	165	1	0	0	0	0	0	1	0	0	11261	1124	39	1	787	1	ORC1L	1	52849543	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5284656	52849543	196401078	44	89197											
DMRTB1	63948	broad.mit.edu	37	chr1	53925262	53925262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctacctgatctccgagCgccagaagatcatggccgcg	12	13	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:53925262C>T	uc001cvq.1	+	1	191	c.136C>T	c.(136-138)CGC>TGC	p.R46C		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	46	DM.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GATCTCCGAGCGCCAGAAGAT	0.662													T	53925262	C	T	53925262	3	4	165	1	0	0	0	0	1	0	0	0	4590	768	27	1	138	1	DMRTB1	1	53925262	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1075719	53925262	195325359	45	89198											
PRKAA2	5563	broad.mit.edu	37	chr1	57169933	57169933	+	Frame_Shift_Del	DEL	C	C	-													atgatagtgccatgcatattCccccaggcctgaaacctcat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:57169932_57169932TC>T	uc001cyk.4	+	6	1148	c.1077_1077TC>T	c.(1075-1077)attfs	p.I359fs		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	359					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						CCATGCATATTCCCCCAGGCC	0.468													-	57169933	C	-	57169933	7	5	165	1	0	1	0	1	0	0	0	0	12494	855	30	0	1104	0	PRKAA2	1	57169933	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	3244671	57169933	192080688	46	89199											
DNAJC6	9829	broad.mit.edu	37	chr1	65855087	65855087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtcaatcccagcatcCtcttctcttctcaccaggaa	5	14	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:65855087C>A	uc001dcd.1	+	10	1335	c.1171C>A	c.(1171-1173)CTC>ATC	p.L391I	DNAJC6_uc001dcc.1_Missense_Mutation_p.L422I|DNAJC6_uc010opc.1_Missense_Mutation_p.L378I|DNAJC6_uc001dce.1_Missense_Mutation_p.L448I	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	391					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						TCCCAGCATCCTCTTCTCTTC	0.433													A	65855087	C	A	65855087	3	1	165	1	0	0	0	0	1	0	0	0	4653	681	24	5	1209	5	DNAJC6	1	65855087	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8685154	65855087	183395534	47	89200											
SGIP1	84251	broad.mit.edu	37	chr1	67101641	67101641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcagcccagcccacaCgaaccaccctacaatagcaa	5	18	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:67101641C>T	uc001dcr.2	+	4	331	c.114C>T	c.(112-114)CAC>CAT	p.H38H		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	38					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			ovary(3)	3						CCAGCCCACACGAACCACCCT	0.378													T	67101641	C	T	67101641	2	4	165	1	0	0	0	0	0	0	0	1	14206	535	19	1		1	SGIP1	1	67101641	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1246554	67101641	182148980	48	89201											
C1orf141	400757	broad.mit.edu	37	chr1	67558859	67558859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattctttcaaattttccAgtttgggcactcatttcatg	5	9	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:67558859A>G	uc001ddl.1	-	7	1143	c.1032T>C	c.(1030-1032)ACT>ACC	p.T344T	C1orf141_uc001ddm.1_Silent_p.T344T|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	344										ovary(1)	1						CAAATTTTCCAGTTTGGGCAC	0.348													G	67558859	A	G	67558859	2	3	165	1	0	0	0	0	0	0	0	1	2001	175	7	3		3	C1orf141	1	67558859	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	457218	67558859	181691762	49	89202											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433													-	68171151	T	-	68171151	7	5	165	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	612292	68171151	181079470	50	89203											
SYDE2	84144	broad.mit.edu	37	chr1	85624662	85624662	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattttctccgatttttctaTcttctgaagggacatcatca	5	9	6	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:85624662T>A	uc009wcm.2	-	7	3405	c.3356A>T	c.(3355-3357)GAT>GTT	p.D1119V		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	1119					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		GATTTTTCTATCTTCTGAAGG	0.358													A	85624662	T	A	85624662	3	1	165	1	0	0	0	0	1	0	0	0	15433	1435	50	5	232	5	SYDE2	1	85624662	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	17453511	85624662	163625959	51	89204											
ZNF644	84146	broad.mit.edu	37	chr1	91404466	91404466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagaactttccttcttAgattccttaattactctctt	2	12	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:91404466A>G	uc001dnw.2	-	3	2587	c.2445T>C	c.(2443-2445)TCT>TCC	p.S815S	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.S815S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTCCTTCTTAGATTCCTTAA	0.378													G	91404466	A	G	91404466	2	3	165	1	0	0	0	0	0	0	0	1	18057	407	15	3		3	ZNF644	1	91404466	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5779804	91404466	157846155	52	89205											
CDC7	8317	broad.mit.edu	37	chr1	91985737	91985737	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttctttgcttagtggaCgatatccattttataaagca	6	7	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:91985737C>T	uc001doe.2	+	11	1396	c.1231C>T	c.(1231-1233)CGA>TGA	p.R411*	CDC7_uc001dof.2_Nonsense_Mutation_p.R411*|CDC7_uc010osw.1_Nonsense_Mutation_p.R383*|CDC7_uc009wdc.2_Nonsense_Mutation_p.R411*|CDC7_uc009wdd.2_Intron	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	411	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			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		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)		GCTTAGTGGACGATATCCATT	0.318													T	91985737	C	T	91985737	4	4	165	1	0	0	0	0	0	1	0	0	3084	528	19	1	1269	1	CDC7	1	91985737	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	581271	91985737	157264884	53	89206											
RPAP2	79871	broad.mit.edu	37	chr1	92767148	92767148	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagttcctaatggagtgtGtatgtgttaagttgacaaat	11	3	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:92767148G>A	uc001dot.2	+	3	343	c.234_splice	c.e3+1	p.C78_splice	RPAP2_uc009wdh.2_Splice_Site|GLMN_uc001dor.2_5'Flank|GLMN_uc009wdg.2_5'Flank|GLMN_uc001dos.2_5'Flank	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		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)		AATGGAGTGTGTATGTGTTAA	0.313													A	92767148	G	A	92767148	5	1	165	1	0	0	0	0	0	0	1	0	13542	1391	48	4	245	4	RPAP2	1	92767148	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	781411	92767148	156483473	54	89207											
RPAP2	79871	broad.mit.edu	37	chr1	92789302	92789302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcactgagcagttaggCgattgcaaattagatagtca	11	6	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:92789302C>T	uc001dot.2	+	8	934	c.825C>T	c.(823-825)GGC>GGT	p.G275G	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		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)		AGCAGTTAGGCGATTGCAAAT	0.373													T	92789302	C	T	92789302	2	4	165	1	0	0	0	0	0	0	0	1	13542	755	27	1		1	RPAP2	1	92789302	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	22154	92789302	156461319	55	89208											
EXTL2	2135	broad.mit.edu	37	chr1	101343423	101343423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcgaagcactcgaatcccCattactctcccaggaagttt	6	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:101343423C>A	uc001dtk.1	-	3	379	c.42G>T	c.(40-42)ATG>ATT	p.M14I	EXTL2_uc001dtl.1_Missense_Mutation_p.M14I|EXTL2_uc010ouk.1_Missense_Mutation_p.M1I|EXTL2_uc001dtm.1_Missense_Mutation_p.M14I	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	exostoses-like 2	14	Cytoplasmic (Potential).				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CTCGAATCCCCATTACTCTCC	0.428													A	101343423	C	A	101343423	3	1	165	1	0	0	0	0	1	0	0	0	5326	594	21	5	962	5	EXTL2	1	101343423	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8554121	101343423	147907198	56	89209											
COL11A1	1301	broad.mit.edu	37	chr1	103427746	103427746	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatacctgagctccaggaaGacctctttcccctgggaaac	8	13	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:103427746G>A	uc001dul.2	-	40	3418	c.3100C>T	c.(3100-3102)CTT>TTT	p.L1034F	COL11A1_uc001duk.2_Missense_Mutation_p.L230F|COL11A1_uc001dum.2_Missense_Mutation_p.L1046F|COL11A1_uc001dun.2_Missense_Mutation_p.L995F|COL11A1_uc009weh.2_Missense_Mutation_p.L918F	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1034	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		GCTCCAGGAAGACCTCTTTCC	0.383													A	103427746	G	A	103427746	3	1	165	1	0	0	0	0	1	0	0	0	3667	942	33	4	2432	4	COL11A1	1	103427746	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2084323	103427746	145822875	57	89210											
AMY1A	276	broad.mit.edu	37	chr1	104203067	104203067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatcaacgaggacatggcGctggaggagcctctatactt	11	10	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:104203067G>A	uc001duu.2	+	7	1178	c.964G>A	c.(964-966)GCT>ACT	p.A322T	AMY1A_uc001duv.2_Missense_Mutation_p.A322T	NM_001008221	NP_001008222	P04745	AMY1_HUMAN	salivary amylase alpha 1A precursor	322					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		AGGACATGGCGCTGGAGGAGC	0.408													A	104203067	G	A	104203067	3	1	165	1	0	0	0	0	1	0	0	0	591	1087	38	1	986	1	AMY1A	1	104203067	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	775321	104203067	145047554	58	89211											
VAV3	10451	broad.mit.edu	37	chr1	108307782	108307782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactccactgcagtactgCccgtaaataaccaatctgaa	5	14	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:108307782C>T	uc001dvk.1	-	9	891	c.837G>A	c.(835-837)GGG>GGA	p.G279G	VAV3_uc010ouw.1_Silent_p.G279G|VAV3_uc001dvl.1_Silent_p.G103G|VAV3_uc010oux.1_Silent_p.G279G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	279	DH.				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			ovary(5)|lung(2)|breast(2)	9		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)		TGCAGTACTGCCCGTAAATAA	0.373													T	108307782	C	T	108307782	2	4	165	1	0	0	0	0	0	0	0	1	17130	726	26	2		2	VAV3	1	108307782	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4104715	108307782	140942839	59	89212											
GPSM2	29899	broad.mit.edu	37	chr1	109440679	109440681	+	In_Frame_Del	DEL	AGA	AGA	-													caggatgtaggagaatttccAgaagaagtgagagatgctct					rs145997327	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:109440678_109440680CAGA>C	uc010ovc.2	+	4	1008_1010	c.512_514CAGA>C	c.(511-516)ccagaa>cCaa	p.E173del	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_In_Frame_Del_p.E173del|GPSM2_uc010ove.1_In_Frame_Del_p.E173del	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	173					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GGAGAATTTCCAGAAGAAGTGAG	0.493													-	109440681	AGA	-	109440679	7	5	165	1	0	1	0	1	0	0	0	0	6735	175	7	0	527	0	GPSM2	1	109440679	In_Frame_Del	DEL	AGA	TCGA-CG-4305-01A-01D-1158-08	1132897	109440679	139809942	60	89213											
CELSR2	1952	broad.mit.edu	37	chr1	109810580	109810580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctggctacttcggcagCgacgtcaaggtggcctacca	12	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:109810580C>T	uc001dxa.3	+	17	6277	c.6216C>T	c.(6214-6216)AGC>AGT	p.S2072S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2072	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		ACTTCGGCAGCGACGTCAAGG	0.662													T	109810580	C	T	109810580	2	4	165	1	0	0	0	0	0	0	0	1	3222	767	27	1		1	CELSR2	1	109810580	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	369901	109810580	139440041	61	89214											
GNAI3	2773	broad.mit.edu	37	chr1	110121917	110121917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgattaaacggttatggcGagatggtggggtacaagctt	15	4	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:110121917G>A	uc001dxz.2	+	4	552	c.395G>A	c.(394-396)CGA>CAA	p.R132Q		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	132					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		CGGTTATGGCGAGATGGTGGG	0.428													A	110121917	G	A	110121917	3	1	165	1	0	0	0	0	1	0	0	0	6506	1058	37	1	409	1	GNAI3	1	110121917	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	311337	110121917	139128704	62	89215											
TTF2	8458	broad.mit.edu	37	chr1	117637937	117637938	+	Frame_Shift_Del	DEL	TC	TC	-													taaccttttcccagatttcaTctctgttggcagaattggag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:117637936_117637937ATC>A	uc001egy.3	+	18	3002_3003	c.2982_2983ATC>A	c.(2980-2985)tcatctfs	p.S994fs		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	994					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|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)		CCCAGATTTCATCTCTGTTGGC	0.416													-	117637938	TC	-	117637937	7	5	165	1	0	1	0	1	0	0	0	0	16716	1435	50	0	3057	0	TTF2	1	117637937	Frame_Shift_Del	DEL	TC	TCGA-CG-4305-01A-01D-1158-08	7516020	117637937	131612684	63	89216											
HSD3B1	3283	broad.mit.edu	37	chr1	120054205	120054205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagagagcctgccaggaCgtctcggtcatcatccacac	10	14	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:120054205C>T	uc001ehv.1	+	3	370	c.225C>T	c.(223-225)GAC>GAT	p.D75D	HSD3B1_uc001ehw.2_Silent_p.D77D	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	75					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			ovary(2)	2	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)	CCTGCCAGGACGTCTCGGTCA	0.502													T	120054205	C	T	120054205	2	4	165	1	0	0	0	0	0	0	0	1	7390	535	19	1		1	HSD3B1	1	120054205	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2416268	120054205	129196416	64	89217											
ITGA10	8515	broad.mit.edu	37	chr1	145533915	145533915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaacaaggaaacaggaCgtgtttatgtgtatctggta	11	7	1	1	rs150141083		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:145533915C>T	uc001eoa.2	+	13	1637	c.1561C>T	c.(1561-1563)CGT>TGT	p.R521C	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R390C|ITGA10_uc009wiw.2_Missense_Mutation_p.R378C|ITGA10_uc010oyw.1_Missense_Mutation_p.R466C	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	521	FG-GAP 5.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R521H(1)		lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAAACAGGACGTGTTTATGT	0.552													T	145533915	C	T	145533915	3	4	165	1	0	0	0	0	1	0	0	0	7873	536	19	1	1611	1	ITGA10	1	145533915	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	25479710	145533915	103716706	65	89218											
PIAS3	10401	broad.mit.edu	37	chr1	145578385	145578385	+	Frame_Shift_Del	DEL	C	C	-													aagcgtgaggtggacatgcaCccccctctgccccagcctgt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:145578384_145578384AC>A	uc001eoc.1	+	1	438	c.347_347AC>A	c.(346-348)cacfs	p.H116fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.H107fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	116	PINIT.|Pro-rich.				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)					GTGGACATGCACCCCCCTCTG	0.627													-	145578385	C	-	145578385	7	5	165	1	0	1	0	1	0	0	0	0	11877	506	18	0	354	0	PIAS3	1	145578385	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	44470	145578385	103672236	66	89219											
PRKAB2	5565	broad.mit.edu	37	chr1	146634134	146634134	+	Frame_Shift_Del	DEL	G	G	-													tttcttgaccataaggccctGggggtgagctggaaaggtct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:146634133_146634133TG>T	uc001epe.3	-	5	703	c.558_558CA>A	c.(556-558)ccafs	p.P186fs	PRKAB2_uc010ozm.2_Frame_Shift_Del_p.P104fs|PRKAB2_uc010ozn.2_Frame_Shift_Del_p.Q64fs|PRKAB2_uc009wjf.1_Frame_Shift_Del_p.P186fs	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	186					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)	CATAAGGCCCTGGGGGTGAGC	0.403													-	146634134	G	-	146634134	7	5	165	1	0	1	0	1	0	0	0	0	12496	1348	47	0	273	0	PRKAB2	1	146634134	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1055749	146634134	102616487	67	89220											
GJA8	2703	broad.mit.edu	37	chr1	147380700	147380700	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggagaaaaccatcttcatCctgttcatgttgtctgtggc	9	10	4	1	rs148480116		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:147380700C>T	uc001epu.1	+	2	681	c.618C>T	c.(616-618)ATC>ATT	p.I206I		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	206	Helical; (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CCATCTTCATCCTGTTCATGT	0.607													T	147380700	C	T	147380700	2	4	165	1	0	0	0	0	0	0	0	1	6405	845	30	4		4	GJA8	1	147380700	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	746566	147380700	101869921	68	89221											
NBPF14	25832	broad.mit.edu	37	chr1	148009502	148009502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctctttctcatccaacAgctccccgctgagcctggaa	8	16	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:148009502A>C	uc001eqq.2	-	16	1822	c.1805T>G	c.(1804-1806)CTG>CGG	p.L602R	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Missense_Mutation_p.L175R|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	602	NBPF 7.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					CTCATCCAACAGCTCCCCGCT	0.478													C	148009502	A	C	148009502	3	2	165	1	0	0	0	0	1	0	0	0	10194	188	7	5	988	5	NBPF14	1	148009502	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	628802	148009502	101241119	69	89222											
TMOD4	29765	broad.mit.edu	37	chr1	151143428	151143428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagctcagtgagtgtggCattttcccgaactgccttca	11	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:151143428C>T	uc001exc.3	-	8	1028	c.838G>A	c.(838-840)GCC>ACC	p.A280T	TMOD4_uc001exb.2_Missense_Mutation_p.A108T|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.A211T	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	280					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	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)			GTGAGTGTGGCATTTTCCCGA	0.517													T	151143428	C	T	151143428	3	4	165	1	0	0	0	0	1	0	0	0	16233	710	25	2	211	2	TMOD4	1	151143428	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3133926	151143428	98107193	70	89223											
RORC	6097	broad.mit.edu	37	chr1	151785790	151785790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcagcattgtaggcccGgcacatcctaaccagcacca	9	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:151785790G>A	uc001ezh.2	-	8	1207	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	RORC_uc001ezg.2_Missense_Mutation_p.R346W|RORC_uc010pdo.1_Missense_Mutation_p.R421W|RORC_uc010pdp.1_Missense_Mutation_p.R367W	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	367	Ligand-binding.				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			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTAGGCCCGGCACATCCTA	0.567													A	151785790	G	A	151785790	3	1	165	1	0	0	0	0	1	0	0	0	13530	1115	39	1	473	1	RORC	1	151785790	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	642362	151785790	97464831	71	89224											
TCHH	7062	broad.mit.edu	37	chr1	152080509	152080509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttcttggcgcagctgttcCtcctcacggaattttctctc	8	13	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152080509C>A	uc001ezp.2	-	2	5184	c.5184G>T	c.(5182-5184)GAG>GAT	p.E1728D	TCHH_uc009wne.1_Missense_Mutation_p.E1728D	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1728	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCTGTTCCTCCTCACGGA	0.562													A	152080509	C	A	152080509	3	1	165	1	0	0	0	0	1	0	0	0	15697	680	24	5	651	5	TCHH	1	152080509	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	294719	152080509	97170112	72	89225											
TCHH	7062	broad.mit.edu	37	chr1	152083351	152083351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggccgacagcctctgaCggcccctctcgctcttttcc	9	19	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152083351C>T	uc001ezp.2	-	2	2342	c.2342G>A	c.(2341-2343)CGT>CAT	p.R781H	TCHH_uc009wne.1_Missense_Mutation_p.R781H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	781					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTCTGACGGCCCCTCTC	0.687													T	152083351	C	T	152083351	3	4	165	1	0	0	0	0	1	0	0	0	15697	536	19	1	3493	1	TCHH	1	152083351	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2842	152083351	97167270	73	89226											
FLG2	388698	broad.mit.edu	37	chr1	152324350	152324351	+	Frame_Shift_Ins	INS	-	-	TG													accgtgagtgtgtcctgaatINSgtgtgtgtgagacccctgag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152324349_152324350A>ATG	uc001ezw.4	-	2	5985_5986	c.5912_5913T>CAT	c.(5911-5913)catfs	p.H1971fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1971							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)			TGTGTCCTGAATGTGTGTGTGA	0.52													TG	152324351	-	TG	152324350	7	5	165	1	0	1	1	0	0	0	0	0	5923	1464	51	0	1267	0	FLG2	1	152324350	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	240999	152324350	96926271	74	89227											
CRNN	49860	broad.mit.edu	37	chr1	152382422	152382422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaccactgcctggctgcGtctgggtctgtccctgttct	11	13	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:152382422G>A	uc001ezx.2	-	3	1210	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	379	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGCTGCGTCTGGGTCTG	0.587													A	152382422	G	A	152382422	3	1	165	1	0	0	0	0	1	0	0	0	3892	1145	40	1	355	1	CRNN	1	152382422	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	58072	152382422	96868199	75	89228											
S100A14	57402	broad.mit.edu	37	chr1	153588392	153588392	+	Translation_Start_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtcctatagctggccccaGaggagctgatggctcatgat	12	10	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:153588392G>T	uc001fce.2	-	2	41	c.-57C>A	c.(-59--55)CTCTG>CTATG		S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14						calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding				0	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)			GCTGGCCCCAGAGGAGCTGAT	0.562													T	153588392	G	T	153588392	1	4	165	1	0	0	0	0	0	0	0	0	13776	957	33	5		5	S100A14	1	153588392	Translation_Start_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1205970	153588392	95662229	76	89229											
SLC39A1	27173	broad.mit.edu	37	chr1	153934781	153934781	+	Frame_Shift_Del	DEL	C	C	-													gacaagtggccaaaaagacgCcccccgcgaaacagcttact							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:153934780_153934780GC>G	uc001fdl.3	-	3	700	c.234_234GC>C	c.(232-234)ggcfs	p.G78fs	SLC39A1_uc001fdi.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc001fdj.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc001fdk.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc010pee.2_Intron	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	78						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)		CCAAAAAGACGCCCCCCGCGA	0.612													-	153934781	C	-	153934781	7	5	165	1	0	1	0	1	0	0	0	0	14612	739	26	0	749	0	SLC39A1	1	153934781	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	346389	153934781	95315840	77	89230											
DCST2	127579	broad.mit.edu	37	chr1	154999182	154999182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccacggttagagacaccAacacaggacctggcacaaag	9	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:154999182A>G	uc001fgm.2	-	9	1432	c.1352T>C	c.(1351-1353)TTG>TCG	p.L451S	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	451	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	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)			TAGAGACACCAACACAGGACC	0.498													G	154999182	A	G	154999182	3	3	165	1	0	0	0	0	1	0	0	0	4303	131	5	3	997	3	DCST2	1	154999182	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1064401	154999182	94251439	78	89231											
TRIM46	80128	broad.mit.edu	37	chr1	155148109	155148109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagccagaccgcctggaccGgctgcttaagtcaggtggga	14	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:155148109G>A	uc001fhs.1	+	2	394	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.R91Q|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R104Q|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.R81Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R91Q|TRIM46_uc009wpf.2_Missense_Mutation_p.R91Q|TRIM46_uc001fhv.3_Missense_Mutation_p.R91Q|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	104						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTGGACCGGCTGCTTAAG	0.642													A	155148109	G	A	155148109	3	1	165	1	0	0	0	0	1	0	0	0	16518	1116	39	1	317	1	TRIM46	1	155148109	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	148927	155148109	94102512	79	89232											
FDPS	2224	broad.mit.edu	37	chr1	155288502	155288502	+	Frame_Shift_Del	DEL	C	C	-													gaccctggacctcctcacagCcccccagggcaatgtggatc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:155288501_155288501GC>G	uc001fkc.2	+	6	949	c.730_730GC>G	c.(730-732)gccfs	p.A244fs	FDPS_uc021paw.1_Frame_Shift_Del_p.A178fs|FDPS_uc001fkd.2_Frame_Shift_Del_p.A178fs|FDPS_uc021pax.1_Frame_Shift_Del_p.A73fs|FDPS_uc001fke.2_Frame_Shift_Del_p.A244fs|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	244					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCTCCTCACAGCCCCCCAGGG	0.562													-	155288502	C	-	155288502	7	5	165	1	0	1	0	1	0	0	0	0	5803	739	26	0	753	0	FDPS	1	155288502	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	140393	155288502	93962119	80	89233											
RAB25	57111	broad.mit.edu	37	chr1	156040014	156040014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaatgccatcactctggGcagtgcccaggctggacagg	13	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156040014G>A	uc001fnc.2	+	5	804	c.578G>A	c.(577-579)GGC>GAC	p.G193D		NM_020387	NP_065120	P57735	RAB25_HUMAN	RAB25	193					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				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCACTCTGGGCAGTGCCCAG	0.597													A	156040014	G	A	156040014	3	1	165	1	0	0	0	0	1	0	0	0	12912	1203	42	2	596	2	RAB25	1	156040014	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	751512	156040014	93210607	81	89234											
SEMA4A	64218	broad.mit.edu	37	chr1	156146488	156146488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcccccgggagcatgtgaaGgtcccgttgaccagggtcag	14	12	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156146488G>T	uc001fnl.2	+	15	2090	c.1986G>T	c.(1984-1986)AAG>AAT	p.K662N	SEMA4A_uc009wrq.2_Missense_Mutation_p.K662N|SEMA4A_uc001fnm.2_Missense_Mutation_p.K662N|SEMA4A_uc001fnn.2_Missense_Mutation_p.K530N|SEMA4A_uc001fno.2_Missense_Mutation_p.K662N	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	662	Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					AGCATGTGAAGGTCCCGTTGA	0.602													T	156146488	G	T	156146488	3	4	165	1	0	0	0	0	1	0	0	0	14031	991	35	5	2040	5	SEMA4A	1	156146488	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	106474	156146488	93104133	82	89235											
SMG5	23381	broad.mit.edu	37	chr1	156230293	156230293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcaaagttaaagcgtctGtgggcagctcggagcggggg	18	7	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156230293G>A	uc001foc.3	-	15	2381	c.2232C>T	c.(2230-2232)CAC>CAT	p.H744H	SMG5_uc009wrv.2_Silent_p.H229H	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	744					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TAAAGCGTCTGTGGGCAGCTC	0.532													A	156230293	G	A	156230293	2	1	165	1	0	0	0	0	0	0	0	1	14796	1368	48	4		4	SMG5	1	156230293	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	83805	156230293	93020328	83	89236											
IQGAP3	128239	broad.mit.edu	37	chr1	156513774	156513774	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatcaggcagctcaccTaatatcctgtagtcatcttg	10	10	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156513774T>C	uc001fpf.2	-	22	2604	c.2529A>G	c.(2527-2529)TTA>TTG	p.L843L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	843	IQ 4.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGCTCACCTAATATCCTGT	0.532													C	156513774	T	C	156513774	2	2	165	1	0	0	0	0	0	0	0	1	7816	1536	53	3		3	IQGAP3	1	156513774	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	283481	156513774	92736847	84	89237											
BCAN	63827	broad.mit.edu	37	chr1	156618552	156618552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtcacacccagccagcGctgtggtgggggcttgcctg	14	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156618552G>A	uc001fpp.2	+	6	1298	c.962G>A	c.(961-963)CGC>CAC	p.R321H	BCAN_uc001fpo.2_Missense_Mutation_p.R321H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	321	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCAGCCAGCGCTGTGGTGGG	0.612													A	156618552	G	A	156618552	3	1	165	1	0	0	0	0	1	0	0	0	1345	1087	38	1	980	1	BCAN	1	156618552	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	104778	156618552	92632069	85	89238											
MRPL24	79590	broad.mit.edu	37	chr1	156708387	156708387	+	Frame_Shift_Del	DEL	G	G	-													ctgggcgccgcctgatccatGgggggttcttcctcttgtct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:156708386_156708386TG>T	uc001fpw.1	-	1	250	c.111_111CA>A	c.(109-111)ccafs	p.P37fs	MRPL24_uc001fpx.1_Frame_Shift_Del_p.P37fs	NM_024540	NP_663781	Q96A35	RM24_HUMAN	Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	37					translation	mitochondrion|ribosome	structural constituent of ribosome	p.P37T(1)		endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGATCCATGGGGGGTTCT	0.597													-	156708387	G	-	156708387	7	5	165	1	0	1	0	1	0	0	0	0	9790	1348	47	0	560	0	MRPL24	1	156708387	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	89835	156708387	92542234	86	89239											
FCRL3	115352	broad.mit.edu	37	chr1	157660081	157660081	+	Frame_Shift_Del	DEL	C	C	-													caccactttactgtgctgggCccccaggccattgtcagcct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:157660080_157660080GC>G	uc001fqz.4	-	8	1947	c.1655_1655GC>C	c.(1654-1656)gccfs	p.A552fs	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Frame_Shift_Del_p.A278fs|FCRL3_uc001frb.3_Frame_Shift_Del_p.A552fs|FCRL3_uc001frc.1_Frame_Shift_Del_p.A552fs	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	552	Ig-like C2-type 6.					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)					ACTGTGCTGGGCCCCCAGGCC	0.468													-	157660081	C	-	157660081	7	5	165	1	0	1	0	1	0	0	0	0	5796	739	26	0	578	0	FCRL3	1	157660081	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	951694	157660081	91590540	87	89240											
OR10Z1	128368	broad.mit.edu	37	chr1	158576272	158576272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagggattttgtcttccTgggcttctccagttctgggg	14	9	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:158576272T>C	uc010pio.1	+	1	44	c.44T>C	c.(43-45)CTG>CCG	p.L15P		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TTTGTCTTCCTGGGCTTCTCC	0.478													C	158576272	T	C	158576272	3	2	165	1	0	0	0	0	1	0	0	0	10923	1580	55	3	46	3	OR10Z1	1	158576272	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	916191	158576272	90674349	88	89241											
OR10J3	441911	broad.mit.edu	37	chr1	159284423	159284423	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccttcaaagaggaactcagtCacaaaagtggaatttagctt	8	8	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:159284423C>T	uc010piu.1	-	1	27	c.27G>A	c.(25-27)GTG>GTA	p.V9V		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					GGAACTCAGTCACAAAAGTGG	0.433													T	159284423	C	T	159284423	2	4	165	1	0	0	0	0	0	0	0	1	10911	813	29	4		4	OR10J3	1	159284423	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	708151	159284423	89966198	89	89242											
SLAMF9	89886	broad.mit.edu	37	chr1	159923100	159923100	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcccagcctaaactcacgGtagacacatatattgtactg	7	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:159923100G>C	uc001fus.2	-	2	507	c.390C>G	c.(388-390)TAC>TAG	p.Y130*	SLAMF9_uc009wtd.2_Nonsense_Mutation_p.Y130*|SLAMF9_uc001fut.2_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	SLAM family member 9 isoform 1	130	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAAACTCACGGTAGACACATA	0.498													C	159923100	G	C	159923100	4	2	165	1	0	0	0	0	0	1	0	0	14371	1275	44	5	491	5	SLAMF9	1	159923100	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	638677	159923100	89327521	90	89243											
PIGM	93183	broad.mit.edu	37	chr1	160001078	160001078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccatcaggaccagggagGcgacaatagagtccgcatta	13	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:160001078G>A	uc001fuv.1	-	1	706	c.452C>T	c.(451-453)GCC>GTC	p.A151V		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	151	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCAGGGAGGCGACAATAGA	0.537													A	160001078	G	A	160001078	3	1	165	1	0	0	0	0	1	0	0	0	11892	1203	42	2	823	2	PIGM	1	160001078	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	77978	160001078	89249543	91	89244											
ATP1A4	480	broad.mit.edu	37	chr1	160156137	160156137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaatcagaaaactccTcatccgtcagcacccggatg	8	12	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:160156137T>G	uc001fve.3	+	21	3520	c.3041T>G	c.(3040-3042)CTC>CGC	p.L1014R	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.L517R|ATP1A4_uc001fvh.2_Missense_Mutation_p.L150R	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	1014	Cytoplasmic (Potential).			ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAAAACTCCTCATCCGTCAG	0.562													G	160156137	T	G	160156137	3	3	165	1	0	0	0	0	1	0	0	0	1131	1551	54	5	3123	5	ATP1A4	1	160156137	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	155059	160156137	89094484	92	89245											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017718	161017719	+	Frame_Shift_Ins	INS	-	-	G													tgctacaaggggaggttctgINSgggatgaggcagtaatcccc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161017717_161017718T>TG	uc001fxl.3	-	11	3439_3440	c.3093_3094A>CA	c.(3091-3096)cccagafs	p.P1031fs	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Frame_Shift_Ins_p.P820fs|ARHGAP30_uc001fxm.3_Frame_Shift_Ins_p.P877fs|ARHGAP30_uc009wtx.3_Frame_Shift_Ins_p.P704fs	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	1031					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)			GGGGAGGTTCTGGGGATGAGGC	0.609													G	161017719	-	G	161017718	7	5	165	1	0	1	1	0	0	0	0	0	879	1335	47	0	216	0	ARHGAP30	1	161017718	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	861581	161017718	88232903	93	89246											
ARHGAP30	257106	broad.mit.edu	37	chr1	161019226	161019226	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccttacctgaggcccaacTcccaggagctcctccaggta	8	17	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161019226T>A	uc001fxl.2	-	11	2020	c.1674A>T	c.(1672-1674)GGA>GGT	p.G558G	ARHGAP30_uc001fxk.2_Silent_p.G558G|ARHGAP30_uc001fxm.2_Silent_p.G404G|ARHGAP30_uc009wtx.2_Silent_p.G231G|ARHGAP30_uc001fxn.1_Silent_p.G404G	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	558					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGGCCCAACTCCCAGGAGCT	0.647													A	161019226	T	A	161019226	2	1	165	1	0	0	0	0	0	0	0	1	879	1538	54	5		5	ARHGAP30	1	161019226	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1508	161019226	88231395	94	89247											
NR1I3	9970	broad.mit.edu	37	chr1	161203117	161203117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaatgccagggcttctgCcgacagtatcactgtgccag	11	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161203117C>T	uc001fzx.2	-	4	453	c.250G>A	c.(250-252)GCA>ACA	p.A84T	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A84T|NR1I3_uc001fzg.2_Missense_Mutation_p.A55T|NR1I3_uc001fzh.2_Missense_Mutation_p.A55T|NR1I3_uc001fzi.2_Missense_Mutation_p.A55T|NR1I3_uc001fzj.2_Missense_Mutation_p.A55T|NR1I3_uc001fzk.2_Missense_Mutation_p.A55T|NR1I3_uc001fzl.2_Missense_Mutation_p.A55T|NR1I3_uc001fzm.2_Missense_Mutation_p.A9T|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Missense_Mutation_p.A84T|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.A84T|NR1I3_uc001fzy.2_Missense_Mutation_p.A84T|NR1I3_uc001fzz.2_Missense_Mutation_p.A84T|NR1I3_uc001gaa.2_Missense_Mutation_p.A84T|NR1I3_uc001gab.2_Missense_Mutation_p.A84T|NR1I3_uc001gac.2_Missense_Mutation_p.A55T|NR1I3_uc010pkm.1_Missense_Mutation_p.A55T|NR1I3_uc010pkn.1_Missense_Mutation_p.A84T	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	84					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			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGCTTCTGCCGACAGTATC	0.582													T	161203117	C	T	161203117	3	4	165	1	0	0	0	0	1	0	0	0	10621	739	26	2	942	2	NR1I3	1	161203117	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	183891	161203117	88047504	95	89248											
MPZ	4359	broad.mit.edu	37	chr1	161276654	161276654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccctacccactggatgcGctctttgaaggtccccacct	8	17	1	1	rs121913590		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161276654G>A	uc001gaf.3	-	3	359	c.322C>T	c.(322-324)CGC>TGC	p.R108C	MPZ_uc010pko.1_RNA	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero	98	Ig-like V-type.|Extracellular (Potential).		R -> P (in CMT1B).|R -> C (in CMT1B; severe and DSS).|R -> H (in CMT1B).|R -> S (in CMT1B).		synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTGGATGCGCTCTTTGAAG	0.507													A	161276654	G	A	161276654	3	1	165	1	0	0	0	0	1	0	0	0	9748	1087	38	1	470	1	MPZ	1	161276654	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	73537	161276654	87973967	96	89249											
FCRLA	84824	broad.mit.edu	37	chr1	161681777	161681777	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagctgaaccccaagcaGgaagccccatgaccctgagt	9	16	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161681777G>T	uc001gbe.2	+	5	864	c.622G>T	c.(622-624)GGA>TGA	p.G208*	FCRLA_uc001gbd.2_Nonsense_Mutation_p.G202*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.G113*|FCRLA_uc001gbg.2_Nonsense_Mutation_p.G62*|FCRLA_uc009wuo.2_Nonsense_Mutation_p.G68*|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	185	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCCCAAGCAGGAAGCCCCAT	0.517													T	161681777	G	T	161681777	4	4	165	1	0	0	0	0	0	1	0	0	5800	1001	35	5	640	5	FCRLA	1	161681777	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	405123	161681777	87568844	97	89250											
OLFML2B	25903	broad.mit.edu	37	chr1	161989931	161989931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgcactgacagtccgaGccctcagacatagccttgac	8	15	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:161989931G>A	uc001gbu.2	-	2	640	c.216C>T	c.(214-216)GGC>GGT	p.G72G	OLFML2B_uc010pkq.1_Silent_p.G72G	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	72										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACAGTCCGAGCCCTCAGACA	0.572													A	161989931	G	A	161989931	2	1	165	1	0	0	0	0	0	0	0	1	10858	958	34	2		2	OLFML2B	1	161989931	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	308154	161989931	87260690	98	89251											
SLC9A11	284525	broad.mit.edu	37	chr1	173551081	173551081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatacactgaatgatttttGcacaccaatatccaaatatt	3	8	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:173551081G>A	uc001giz.2	-	7	1130	c.707C>T	c.(706-708)GCA>GTA	p.A236V	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	236	Helical; (Potential).				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AATGATTTTTGCACACCAATA	0.299													A	173551081	G	A	173551081	3	1	165	1	0	0	0	0	1	0	0	0	14711	1319	46	2	2755	2	SLC9A11	1	173551081	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	11561150	173551081	75699540	99	89252											
PAPPA2	60676	broad.mit.edu	37	chr1	176640157	176640157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcagctgaacagtacTcacttcctcaacatctactt	5	15	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:176640157T>C	uc001gkz.2	+	4	3207	c.2043T>C	c.(2041-2043)ACT>ACC	p.T681T	PAPPA2_uc001gky.1_Silent_p.T681T|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	681	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGAACAGTACTCACTTCCTCA	0.512													C	176640157	T	C	176640157	2	2	165	1	0	0	0	0	0	0	0	1	11433	1538	54	3		3	PAPPA2	1	176640157	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3089076	176640157	72610464	100	89253											
QSOX1	5768	broad.mit.edu	37	chr1	180165497	180165497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgtgcccgtgtgggaCgtggaagccaccctcaactt	13	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:180165497C>T	uc001gnz.2	+	12	1644	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	QSOX1_uc001gny.2_Silent_p.D523D|QSOX1_uc001goa.2_Silent_p.D523D|QSOX1_uc001goc.2_Silent_p.D65D|FLJ23867_uc001god.3_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	523					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CCGTGTGGGACGTGGAAGCCA	0.622													T	180165497	C	T	180165497	2	4	165	1	0	0	0	0	0	0	0	1	12883	535	19	1		1	QSOX1	1	180165497	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3525340	180165497	69085124	101	89254											
ACBD6	84320	broad.mit.edu	37	chr1	180471273	180471273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccttctcaaacagctcGgccaggcaactggtctcctc	9	16	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:180471273G>A	uc001gog.2	-	1	750	c.129C>T	c.(127-129)GCC>GCT	p.A43A		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	43	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1						CAAACAGCTCGGCCAGGCAAC	0.612													A	180471273	G	A	180471273	2	1	165	1	0	0	0	0	0	0	0	1	126	1103	39	1		1	ACBD6	1	180471273	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	305776	180471273	68779348	102	89255											
STX6	10228	broad.mit.edu	37	chr1	180945780	180945780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatggcacaccattggcgccGatctggaaggcaggacatgg	14	10	1	0	rs114031596	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:180945780G>A	uc010pnq.1	-	8	931	c.694C>T	c.(694-696)CGG>TGG	p.R232W	STX6_uc009wxo.1_5'Flank|STX6_uc001goo.2_Missense_Mutation_p.R232W|STX6_uc010pnr.1_Missense_Mutation_p.R131W	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	232	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						CATTGGCGCCGATCTGGAAGG	0.532													A	180945780	G	A	180945780	3	1	165	1	0	0	0	0	1	0	0	0	15348	1057	37	1	77	1	STX6	1	180945780	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	474507	180945780	68304841	103	89256											
CACNA1E	777	broad.mit.edu	37	chr1	181453073	181453073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcagaactgtttcaccGtcaacagatccctgttcatc	7	14	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:181453073G>A	uc001gow.2	+	1	358	c.193G>A	c.(193-195)GTC>ATC	p.V65I		NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	65	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CTGTTTCACCGTCAACAGATC	0.537													A	181453073	G	A	181453073	3	1	165	1	0	0	0	0	1	0	0	0	2542	1145	40	1	195	1	CACNA1E	1	181453073	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	507293	181453073	67797548	104	89257											
CACNA1E	777	broad.mit.edu	37	chr1	181767624	181767624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgctgacctcccaagCtctggagagcaacaatgctt	8	16	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:181767624C>A	uc001gow.2	+	47	6632	c.6467C>A	c.(6466-6468)GCT>GAT	p.A2156D	CACNA1E_uc009wxs.2_Missense_Mutation_p.A2044D|CACNA1E_uc009wxt.2_Missense_Mutation_p.A1425D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2199	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACCTCCCAAGCTCTGGAGAGC	0.632													A	181767624	C	A	181767624	3	1	165	1	0	0	0	0	1	0	0	0	2542	797	28	5	6653	5	CACNA1E	1	181767624	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	314551	181767624	67482997	105	89258											
ZNF648	127665	broad.mit.edu	37	chr1	182026561	182026561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggtcccagttgctcccCggcctggggaaacacaacag	13	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:182026561C>T	uc001goz.2	-	2	793	c.585G>A	c.(583-585)CCG>CCA	p.P195P		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTTGCTCCCCGGCCTGGGGA	0.612													T	182026561	C	T	182026561	2	4	165	1	0	0	0	0	0	0	0	1	18060	639	23	1		1	ZNF648	1	182026561	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	258937	182026561	67224060	106	89259											
RNASEL	6041	broad.mit.edu	37	chr1	182555115	182555115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcaacagcaagcagcagtGctgttttgccatcactgtct	9	11	3	0	rs145415894		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:182555115G>T	uc001gpj.1	-	1	994	c.827C>A	c.(826-828)GCA>GAA	p.A276E	RNASEL_uc009wxz.1_Missense_Mutation_p.A276E|RNASEL_uc001gpk.2_Missense_Mutation_p.A276E|RNASEL_uc009wya.1_Missense_Mutation_p.A276E	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	276	ANK 8.				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			ovary(4)|stomach(1)	5						AAGCAGCAGTGCTGTTTTGCC	0.493									Hereditary_Prostate_Cancer				T	182555115	G	T	182555115	3	4	165	1	0	0	0	0	1	0	0	0	13416	1319	46	5	1422	5	RNASEL	1	182555115	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	528554	182555115	66695506	107	89260											
EDEM3	80267	broad.mit.edu	37	chr1	184677410	184677410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgttctttttgttgCtgacttgacaattcaatcat	7	8	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:184677410C>T	uc010pok.1	-	17	2175	c.1914G>A	c.(1912-1914)CAG>CAA	p.Q638Q	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.Q638Q	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	638					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						CTTTTTGTTGCTGACTTGACA	0.443													T	184677410	C	T	184677410	2	4	165	1	0	0	0	0	0	0	0	1	4913	796	28	2		2	EDEM3	1	184677410	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2122295	184677410	64573211	108	89261											
HMCN1	83872	broad.mit.edu	37	chr1	186017945	186017946	+	Frame_Shift_Ins	INS	-	-	A													aatgttgctggaaaaactgaINSaaaaaactacaatgtcaaca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:186017944_186017945G>GA	uc001grq.1	+	41	6779_6780	c.6550_6551G>GA	c.(6550-6552)gaafs	p.E2184fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2184	Ig-like C2-type 19.			E -> EK (in Ref. 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						TGGAAAAACTGAAAAAAACTAC	0.361													A	186017946	-	A	186017945	7	5	165	1	0	1	1	0	0	0	0	0	7220	246	9	0	6717	0	HMCN1	1	186017945	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	1340535	186017945	63232676	109	89262											
F13B	2165	broad.mit.edu	37	chr1	197026436	197026436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcattttggaggttctGtccattttccatcttcacaa	6	10	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:197026436G>A	uc001gtt.1	-	6	1009	c.965C>T	c.(964-966)ACA>ATA	p.T322I		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	322	Sushi 5.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TGGAGGTTCTGTCCATTTTCC	0.368													A	197026436	G	A	197026436	3	1	165	1	0	0	0	0	1	0	0	0	5341	1377	48	4	1048	4	F13B	1	197026436	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	11008491	197026436	52224185	110	89263											
NR5A2	2494	broad.mit.edu	37	chr1	200008890	200008891	+	Frame_Shift_Ins	INS	-	-	G													gggactggctcgatcgcatgINSgggaacagggccagatgccg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:200008889_200008890T>TG	uc001gvb.3	+	1	374_375	c.168_169T>TG	c.(166-171)catgggfs	p.H56fs	NR5A2_uc001gvc.3_Intron|NR5A2_uc009wzh.3_Frame_Shift_Ins_p.H16fs|NR5A2_uc010pph.2_5'Flank|NR5A2_uc009wzg.1_Non-coding_Transcript	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	56					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)					CTCGATCGCATGGGGAACAGGG	0.698													G	200008891	-	G	200008890	7	5	165	1	0	1	1	0	0	0	0	0	10636	1348	47	0	175	0	NR5A2	1	200008890	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	2982454	200008890	49241731	111	89264											
KLHL12	59349	broad.mit.edu	37	chr1	202894140	202894140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatcactacaggcagccaGcacaatccgatgggcaggga	12	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:202894140G>A	uc001gyo.1	-	2	351	c.151C>T	c.(151-153)CTG>TTG	p.L51L	KLHL12_uc010pqc.1_Silent_p.L89L|KLHL12_uc009xah.1_Silent_p.L51L	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	51	BTB.				Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGGCAGCCAGCACAATCCGA	0.458													A	202894140	G	A	202894140	2	1	165	1	0	0	0	0	0	0	0	1	8368	962	34	2		2	KLHL12	1	202894140	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2885250	202894140	46356481	112	89265											
ADORA1	134	broad.mit.edu	37	chr1	203098114	203098114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaccttctgcttcatcGtgtcgctggcggtggctgat	12	12	2	1	rs2275349		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:203098114G>A	uc001gze.1	+	3	578	c.145G>A	c.(145-147)GTG>ATG	p.V49M	ADORA1_uc001gzf.1_Missense_Mutation_p.V49M|ADORA1_uc010pqg.1_Translation_Start_Site|ADORA1_uc009xak.1_Translation_Start_Site|ADORA1_uc010pqh.1_Missense_Mutation_p.V82M	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	49	Helical; Name=2; (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CTGCTTCATCGTGTCGCTGGC	0.632													A	203098114	G	A	203098114	3	1	165	1	0	0	0	0	1	0	0	0	326	1145	40	1	147	1	ADORA1	1	203098114	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	203974	203098114	46152507	113	89266											
FMOD	2331	broad.mit.edu	37	chr1	203316578	203316578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagactgttgtgggacagcCgcacatacagcagcttgggc	13	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:203316578C>T	uc001gzr.2	-	2	957	c.821G>A	c.(820-822)CGG>CAG	p.R274Q	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	274	LRR 8.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GTGGGACAGCCGCACATACAG	0.572													T	203316578	C	T	203316578	3	4	165	1	0	0	0	0	1	0	0	0	5959	652	23	1	317	1	FMOD	1	203316578	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	218464	203316578	45934043	114	89267											
REN	5972	broad.mit.edu	37	chr1	204131189	204131189	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggtggtgttgccaagtgtCagcctcttcatgggttggct	15	8	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:204131189C>T	uc001haq.2	-	2	245	c.201G>A	c.(199-201)CTG>CTA	p.L67L		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	67					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGCCAAGTGTCAGCCTCTTCA	0.577													T	204131189	C	T	204131189	2	4	165	1	0	0	0	0	0	0	0	1	13224	813	29	4		4	REN	1	204131189	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	814611	204131189	45119432	115	89268											
NFASC	23114	broad.mit.edu	37	chr1	204948583	204948583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttaactcagccgtcctccGgctgtccccgtatgtcaact	8	16	2	0	rs151110151	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:204948583G>A	uc001hbj.2	+	19	2400	c.2072G>A	c.(2071-2073)CGG>CAG	p.R691Q	NFASC_uc010pra.1_Missense_Mutation_p.R687Q|NFASC_uc001hbi.2_Missense_Mutation_p.R687Q|NFASC_uc010prb.1_Missense_Mutation_p.R702Q|NFASC_uc010prc.1_Missense_Mutation_p.R258Q|NFASC_uc001hbk.1_Missense_Mutation_p.R497Q|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	691	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GCCGTCCTCCGGCTGTCCCCG	0.582													A	204948583	G	A	204948583	3	1	165	1	0	0	0	0	1	0	0	0	10359	1116	39	1	2222	1	NFASC	1	204948583	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	817394	204948583	44302038	116	89269											
CNTN2	6900	broad.mit.edu	37	chr1	205034993	205034993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacacgtgcatggcccagaCggtggtggacagcgcgtcca	15	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:205034993C>T	uc001hbr.2	+	14	2041	c.1772C>T	c.(1771-1773)ACG>ATG	p.T591M	CNTN2_uc001hbq.1_Missense_Mutation_p.T482M|CNTN2_uc001hbs.2_Missense_Mutation_p.T379M	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	591	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	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)			ATGGCCCAGACGGTGGTGGAC	0.627													T	205034993	C	T	205034993	3	4	165	1	0	0	0	0	1	0	0	0	3641	536	19	1	1822	1	CNTN2	1	205034993	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	86410	205034993	44215628	117	89270											
RBBP5	5929	broad.mit.edu	37	chr1	205065950	205065950	+	Frame_Shift_Del	DEL	G	G	-													aggtttggactgcatccggtGgggggccgtaaggattttct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:205065949_205065949TG>T	uc010prd.2	-	10	1643	c.1362_1362CA>A	c.(1360-1362)ccafs	p.P454fs	RBBP5_uc010pre.2_Frame_Shift_Del_p.P292fs|RBBP5_uc001hbu.2_Frame_Shift_Del_p.P419fs|RBBP5_uc001hbv.2_Frame_Shift_Del_p.P419fs	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	419					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)			CTGCATCCGGTGGGGGGCCGT	0.502													-	205065950	G	-	205065950	7	5	165	1	0	1	0	1	0	0	0	0	13102	1348	47	0	372	0	RBBP5	1	205065950	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	30957	205065950	44184671	118	89271											
CR1	1378	broad.mit.edu	37	chr1	207753935	207753935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctccagcttggggcaaaGgtgtcctttgtctgtgatga	12	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:207753935G>T	uc001hfy.2	+	23	3983	c.3843G>T	c.(3841-3843)AAG>AAT	p.K1281N	CR1_uc009xcl.1_Missense_Mutation_p.K831N|CR1_uc001hfx.2_Missense_Mutation_p.K1731N	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1281	Sushi 20.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TTGGGGCAAAGGTGTCCTTTG	0.433													T	207753935	G	T	207753935	3	4	165	1	0	0	0	0	1	0	0	0	3840	991	35	5	5315	5	CR1	1	207753935	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2687985	207753935	41496686	119	89272											
CR1	1378	broad.mit.edu	37	chr1	207785031	207785031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttccacagtgtgtcagcCgcctccagaaatcctgcatg	8	15	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:207785031C>T	uc001hfy.2	+	30	5095	c.4955C>T	c.(4954-4956)CCG>CTG	p.P1652L	CR1_uc001hfx.2_Missense_Mutation_p.P2102L	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1652	Sushi 26.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						GTGTGTCAGCCGCCTCCAGAA	0.478													T	207785031	C	T	207785031	3	4	165	1	0	0	0	0	1	0	0	0	3840	652	23	1	6455	1	CR1	1	207785031	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	31096	207785031	41465590	120	89273											
LAMB3	3914	broad.mit.edu	37	chr1	209799235	209799235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaagggtggcaggccacGcacaccgggtagcgattaca	14	11	0	0	rs138710333		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:209799235G>A	uc001hhg.2	-	13	2124	c.1734C>T	c.(1732-1734)TGC>TGT	p.C578C	LAMB3_uc009xco.2_Silent_p.C578C|LAMB3_uc001hhh.2_Silent_p.C578C|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	578	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCAGGCCACGCACACCGGGT	0.667													A	209799235	G	A	209799235	2	1	165	1	0	0	0	0	0	0	0	1	8612	1079	38	1		1	LAMB3	1	209799235	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2014204	209799235	39451386	121	89274											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414588	213414588	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaacatcagattcccTcagtagatcaaaaaatagcc	5	11	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:213414588T>G	uc010ptr.1	+	11	1928	c.1769T>G	c.(1768-1770)CTC>CGC	p.L590R	RPS6KC1_uc001hkd.2_Missense_Mutation_p.L578R|RPS6KC1_uc010pts.1_Missense_Mutation_p.L378R|RPS6KC1_uc010ptt.1_Missense_Mutation_p.L378R|RPS6KC1_uc010ptu.1_Missense_Mutation_p.L409R|RPS6KC1_uc010ptv.1_Missense_Mutation_p.L125R|RPS6KC1_uc001hke.2_Missense_Mutation_p.L409R	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	590					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCAGATTCCCTCAGTAGATCA	0.458													G	213414588	T	G	213414588	3	3	165	1	0	0	0	0	1	0	0	0	13658	1551	54	5	1811	5	RPS6KC1	1	213414588	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3615353	213414588	35836033	122	89275											
USH2A	7399	broad.mit.edu	37	chr1	215990384	215990384	+	Frame_Shift_Del	DEL	T	T	-													tgtccacagatagattcaggTttttgacacctcactgcctt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:215990383_215990383GT>G	uc001hku.1	-	47	9913	c.9526_9526AC>C	c.(9526-9528)cctfs	p.P3176fs		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3176	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)		ATAGATTCAGGTTTTTGACAC	0.398										HNSCC(13;0.011)			-	215990384	T	-	215990384	7	5	165	1	0	1	0	1	0	0	0	0	17033	1722	60	0	6183	0	USH2A	1	215990384	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	2575796	215990384	33260237	123	89276											
EPRS	2058	broad.mit.edu	37	chr1	220145457	220145457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcttccattgtattagccAcaaccatatgagtcttaagg	7	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:220145457A>G	uc001hly.1	-	30	4547	c.4277T>C	c.(4276-4278)GTG>GCG	p.V1426A		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1426	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			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGTATTAGCCACAACCATATG	0.303													G	220145457	A	G	220145457	3	3	165	1	0	0	0	0	1	0	0	0	5191	159	6	3	273	3	EPRS	1	220145457	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4155073	220145457	29105164	124	89277											
BPNT1	10380	broad.mit.edu	37	chr1	220246279	220246279	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaatcagctcttgatcCacttcctcagaaggcagatc	6	13	5	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:220246279C>A	uc001hma.2	-	4	418	c.246G>T	c.(244-246)GTG>GTT	p.V82V	BPNT1_uc010pug.1_Silent_p.V27V|BPNT1_uc010puh.1_Intron|BPNT1_uc001hmb.3_Silent_p.V82V	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	82					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		GCTCTTGATCCACTTCCTCAG	0.403													A	220246279	C	A	220246279	2	1	165	1	0	0	0	0	0	0	0	1	1494	581	21	5		5	BPNT1	1	220246279	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	100822	220246279	29004342	125	89278											
TP53BP2	7159	broad.mit.edu	37	chr1	223986208	223986208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctcggctgctgccctgCtggttttggtttagttccca	10	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:223986208C>T	uc010pvb.1	-	12	1949	c.1657G>A	c.(1657-1659)GCA>ACA	p.A553T	TP53BP2_uc001hod.2_Missense_Mutation_p.A424T|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Missense_Mutation_p.A192T	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	547					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			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TGCTGCCCTGCTGGTTTTGGT	0.507													T	223986208	C	T	223986208	3	4	165	1	0	0	0	0	1	0	0	0	16381	797	28	2	1775	2	TP53BP2	1	223986208	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3739929	223986208	25264413	126	89279											
TMEM63A	9725	broad.mit.edu	37	chr1	226048598	226048598	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagcagcaaaggtgactgtCcacttggaggtatagagctc	12	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:226048598C>T	uc001hpm.1	-	14	1435	c.1185G>A	c.(1183-1185)TGG>TGA	p.W395*		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	395						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AGGTGACTGTCCACTTGGAGG	0.567													T	226048598	C	T	226048598	4	4	165	1	0	0	0	0	0	1	0	0	16187	856	30	4	1282	4	TMEM63A	1	226048598	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2062390	226048598	23202023	127	89280											
PSEN2	5664	broad.mit.edu	37	chr1	227079049	227079049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccctccagctcccctaCgacccggagatgggtgagta	13	14	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:227079049C>T	uc009xeo.1	+	10	1384	c.957C>T	c.(955-957)TAC>TAT	p.Y319Y	PSEN2_uc009xep.1_Silent_p.Y319Y|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	319	Cytoplasmic (Potential).				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			lung(2)	2		Prostate(94;0.0771)				AGCTCCCCTACGACCCGGAGA	0.627													T	227079049	C	T	227079049	2	4	165	1	0	0	0	0	0	0	0	1	12651	547	19	1		1	PSEN2	1	227079049	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1030451	227079049	22171572	128	89281											
OBSCN	84033	broad.mit.edu	37	chr1	228494756	228494756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccaagtaccagatggtGcaggatggtgcagctgcaga	15	8	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:228494756G>A	uc009xez.1	+	45	12125	c.12081G>A	c.(12079-12081)GTG>GTA	p.V4027V	OBSCN_uc001hsn.2_Silent_p.V4027V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4027	Ig-like 41.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACCAGATGGTGCAGGATGGTG	0.647													A	228494756	G	A	228494756	2	1	165	1	0	0	0	0	0	0	0	1	10812	1306	46	2		2	OBSCN	1	228494756	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1415707	228494756	20755865	129	89282											
URB2	9816	broad.mit.edu	37	chr1	229779326	229779326	+	Frame_Shift_Del	DEL	G	G	-													caggatattgagcctcatttGggagccttgttcacccaaat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:229779325_229779325TG>T	uc001hts.1	+	4	3816	c.3680_3680TG>T	c.(3679-3681)ttgfs	p.L1227fs	URB2_uc009xfd.1_Frame_Shift_Del_p.L1227fs	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1227						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						GAGCCTCATTTGGGAGCCTTG	0.453													-	229779326	G	-	229779326	7	5	165	1	0	1	0	1	0	0	0	0	17022	1339	47	0	3695	0	URB2	1	229779326	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1284570	229779326	19471295	130	89283											
TRIM67	440730	broad.mit.edu	37	chr1	231349596	231349596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaagggggccaccgtggGcgtgctgctggacctgaata	17	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:231349596G>A	uc009xfn.1	+	9	2201	c.2159G>A	c.(2158-2160)GGC>GAC	p.G720D		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	720	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCCACCGTGGGCGTGCTGCTG	0.612													A	231349596	G	A	231349596	3	1	165	1	0	0	0	0	1	0	0	0	16537	1203	42	2	2193	2	TRIM67	1	231349596	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1570270	231349596	17901025	131	89284											
PCNXL2	80003	broad.mit.edu	37	chr1	233134036	233134036	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaggatgacaccccgtgctGagcaccgccttttctgggct	11	14	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:233134036G>A	uc001hvl.2	-	32	5987	c.5752C>T	c.(5752-5754)CAG>TAG	p.Q1918*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.Q570*|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1918						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCCCGTGCTGAGCACCGCCT	0.607													A	233134036	G	A	233134036	4	1	165	1	0	0	0	0	0	1	0	0	11592	1299	45	4	673	4	PCNXL2	1	233134036	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1784440	233134036	16116585	132	89285											
TARBP1	6894	broad.mit.edu	37	chr1	234601428	234601428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagagagctctctgaaagCgcatccattaatggtccaat	8	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:234601428C>T	uc001hwd.2	-	5	1275	c.1275G>A	c.(1273-1275)GCG>GCA	p.A425A		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	425					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	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)			TCTCTGAAAGCGCATCCATTA	0.299													T	234601428	C	T	234601428	2	4	165	1	0	0	0	0	0	0	0	1	15552	755	27	1		1	TARBP1	1	234601428	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1467392	234601428	14649193	133	89286											
B3GALNT2	148789	broad.mit.edu	37	chr1	235634232	235634232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatttcttgacacaaggcCgtggaggtcttggctctccc	12	11	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:235634232C>T	uc001hxc.2	-	6	923	c.694G>A	c.(694-696)GGC>AGC	p.G232S	B3GALNT2_uc001hxd.1_Missense_Mutation_p.G273S	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	232	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GACACAAGGCCGTGGAGGTCT	0.393													T	235634232	C	T	235634232	3	4	165	1	0	0	0	0	1	0	0	0	1246	652	23	1	836	1	B3GALNT2	1	235634232	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1032804	235634232	13616389	134	89287											
RYR2	6262	broad.mit.edu	37	chr1	237729972	237729972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtattttgaatttgagaCggtcactgctggagacatga	13	5	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:237729972C>T	uc001hyl.1	+	28	3440	c.3320C>T	c.(3319-3321)ACG>ATG	p.T1107M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1107	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GAATTTGAGACGGTCACTGCT	0.552													T	237729972	C	T	237729972	3	4	165	1	0	0	0	0	1	0	0	0	13769	536	19	1	3430	1	RYR2	1	237729972	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2095740	237729972	11520649	135	89288											
FMN2	56776	broad.mit.edu	37	chr1	240370965	240370965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccccctctacccggagcGgcaataccccctccgccccc	7	25	1	0	rs146070457		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:240370965G>A	uc010pyd.1	+	5	3078	c.2853G>A	c.(2851-2853)GCG>GCA	p.A951A	FMN2_uc010pye.1_Silent_p.A955A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	951	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGCAATACCCC	0.697													A	240370965	G	A	240370965	2	1	165	1	0	0	0	0	0	0	0	1	5950	1103	39	1		1	FMN2	1	240370965	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2640993	240370965	8879656	136	89289											
ZNF669	79862	broad.mit.edu	37	chr1	247263838	247263838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttttctccagtatgAattctttcgtggaggtgaag	12	5	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr1:247263838A>G	uc001ice.2	-	4	1406	c.1233T>C	c.(1231-1233)ATT>ATC	p.I411I	ZNF669_uc001icf.2_Silent_p.I325I	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	411	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTCCAGTATGAATTCTTTCGT	0.413													G	247263838	A	G	247263838	2	3	165	1	0	0	0	0	0	0	0	1	18073	242	9	3		3	ZNF669	1	247263838	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	6892873	247263838	1986783	137	89290											
PXDN	7837	broad.mit.edu	37	chr2	1653138	1653138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgggtgtgacggtctccGtcccgatcagggtggtggac	17	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:1653138G>A	uc002qxa.2	-	17	2478	c.2414C>T	c.(2413-2415)ACG>ATG	p.T805M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	805					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			pancreas(6)|ovary(2)	8	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)		GACGGTCTCCGTCCCGATCAG	0.652													A	1653138	G	A	1653138	3	1	165	1	0	0	0	0	1	0	0	0	12847	1145	40	1	2053	1	PXDN	2	1653138	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		1653138	241546235	138	89291											
IAH1	285148	broad.mit.edu	37	chr2	9628458	9628458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagatggagaccattaGccaatcacaggagacccaaa	11	10	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:9628458G>A	uc002qzr.2	+	6	773	c.747G>A	c.(745-747)TAG>TAA	p.*249*	IAH1_uc002qzs.2_Silent_p.*136*|IAH1_uc002qzt.2_Silent_p.*136*|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	249					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGACCATTAGCCAATCACAG	0.443													A	9628458	G	A	9628458	2	1	165	1	0	0	0	0	0	0	0	1	7471	966	34	2		2	IAH1	2	9628458	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	7975320	9628458	233570915	139	89292											
WDR35	57539	broad.mit.edu	37	chr2	20173395	20173395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccttctggaagcctgCcacagctaacacgctgccca	10	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:20173395C>T	uc002rdi.2	-	8	919	c.811G>A	c.(811-813)GCA>ACA	p.A271T	WDR35_uc002rdj.2_Missense_Mutation_p.A271T|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	271										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAAGCCTGCCACAGCTAAC	0.458													T	20173395	C	T	20173395	3	4	165	1	0	0	0	0	1	0	0	0	17286	739	26	2	2818	2	WDR35	2	20173395	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	10544937	20173395	223025978	140	89293											
WDR35	57539	broad.mit.edu	37	chr2	20175418	20175418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtcttttccccaaataCgattgcctaaaacaaaacat	4	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:20175418C>T	uc002rdi.2	-	6	551	c.443G>A	c.(442-444)CGT>CAT	p.R148H	WDR35_uc002rdj.2_Missense_Mutation_p.R148H|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	148	WD 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCAAATACGATTGCCTAA	0.373													T	20175418	C	T	20175418	3	4	165	1	0	0	0	0	1	0	0	0	17286	536	19	1	3194	1	WDR35	2	20175418	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2023	20175418	223023955	141	89294											
RHOB	388	broad.mit.edu	37	chr2	20647251	20647251	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggccatccgcaagaagctgGtggtggtgggcgacggcgcg	19	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:20647251G>C	uc002rdv.2	+	1	417	c.25G>C	c.(25-27)GTG>CTG	p.V9L		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	9					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CAAGAAGCTGGTGGTGGTGGG	0.687													C	20647251	G	C	20647251	3	2	165	1	0	0	0	0	1	0	0	0	13332	1261	44	5	27	5	RHOB	2	20647251	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	471833	20647251	222552122	142	89295											
ASXL2	55252	broad.mit.edu	37	chr2	25966441	25966441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttttaaggctagaagctGctggcaaagtgctcgagggt	16	6	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:25966441G>A	uc002rgs.2	-	12	2986	c.2765C>T	c.(2764-2766)GCA>GTA	p.A922V	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAGAAGCTGCTGGCAAAGT	0.468													A	25966441	G	A	25966441	3	1	165	1	0	0	0	0	1	0	0	0	1067	1319	46	2	1546	2	ASXL2	2	25966441	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5319190	25966441	217232932	143	89296											
EIF2B4	8890	broad.mit.edu	37	chr2	27591927	27591927	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaggaggtggtcctccttGttccccttttcttgcctgtt	9	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:27591927G>A	uc002rkb.2	-	4	507	c.364C>T	c.(364-366)CAA>TAA	p.Q122*	EIF2B4_uc002rjz.2_Nonsense_Mutation_p.Q142*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.Q107*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.Q121*|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Nonsense_Mutation_p.Q91*|EIF2B4_uc002rkf.1_Nonsense_Mutation_p.Q91*|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	122					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCCTTGTTCCCCTTTT	0.562													A	27591927	G	A	27591927	4	1	165	1	0	0	0	0	0	1	0	0	5003	1386	48	4	1247	4	EIF2B4	2	27591927	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1625486	27591927	215607446	144	89297											
IFT172	26160	broad.mit.edu	37	chr2	27703942	27703942	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttcctagcacaacagactgGcccccaggacttgatacagc	8	15	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:27703942G>C	uc002rku.2	-	8	807	c.756C>G	c.(754-756)GGC>GGG	p.G252G	IFT172_uc002rkw.2_Silent_p.G252G|IFT172_uc010yls.1_Silent_p.G231G|IFT172_uc010ezc.2_Silent_p.G252G|IFT172_uc002rkv.2_Silent_p.G252G	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	252	WD 6.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAACAGACTGGCCCCCAGGAC	0.463													C	27703942	G	C	27703942	2	2	165	1	0	0	0	0	0	0	0	1	7557	1190	42	5		5	IFT172	2	27703942	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	112015	27703942	215495431	145	89298											
TRMT61B	55006	broad.mit.edu	37	chr2	29074131	29074131	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaagttcacaggtgcgAattccatctaaaagttcaat	8	8	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:29074131A>G	uc002rmm.2	-	5	1151	c.1119T>C	c.(1117-1119)ATT>ATC	p.I373I	TRMT61B_uc002rmn.2_Silent_p.I373I|TRMT61B_uc010ezk.2_Intron	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B	373							tRNA (adenine-N1-)-methyltransferase activity				0						CACAGGTGCGAATTCCATCTA	0.323													G	29074131	A	G	29074131	2	3	165	1	0	0	0	0	0	0	0	1	16567	242	9	3		3	TRMT61B	2	29074131	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1370189	29074131	214125242	146	89299											
GALNT14	79623	broad.mit.edu	37	chr2	31135133	31135133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacaagaaccactggggCgccagggaacaaggtgatga	15	8	0	3	rs149431826		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31135133C>T	uc002rnr.2	-	14	2075	c.1456G>A	c.(1456-1458)GCC>ACC	p.A486T	GALNT14_uc002rnq.2_Missense_Mutation_p.A466T|GALNT14_uc002rns.2_Missense_Mutation_p.A491T|GALNT14_uc010ymr.1_Missense_Mutation_p.A451T	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	486	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					ACCACTGGGGCGCCAGGGAAC	0.557													T	31135133	C	T	31135133	3	4	165	1	0	0	0	0	1	0	0	0	6212	768	27	1	210	1	GALNT14	2	31135133	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2061002	31135133	212064240	147	89300											
GALNT14	79623	broad.mit.edu	37	chr2	31152322	31152322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atagtattgcttgtattcatCcatccacacttcagctgtcc	5	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31152322C>A	uc002rnr.2	-	11	1709	c.1090G>T	c.(1090-1092)GAT>TAT	p.D364Y	GALNT14_uc002rnq.2_Missense_Mutation_p.D344Y|GALNT14_uc002rns.2_Missense_Mutation_p.D369Y|GALNT14_uc010ymr.1_Missense_Mutation_p.D329Y|GALNT14_uc010ezo.1_Missense_Mutation_p.D331Y	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	364	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TTGTATTCATCCATCCACACT	0.547													A	31152322	C	A	31152322	3	1	165	1	0	0	0	0	1	0	0	0	6212	855	30	5	588	5	GALNT14	2	31152322	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	17189	31152322	212047051	148	89301											
XDH	7498	broad.mit.edu	37	chr2	31560668	31560668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcagccaggaagagggGcggctctccaacagcctgaa	14	11	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31560668G>A	uc002rnv.1	-	35	3869	c.3790C>T	c.(3790-3792)CCC>TCC	p.P1264S		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1264					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	AGGAAGAGGGGCGGCTCTCCA	0.582													A	31560668	G	A	31560668	3	1	165	1	0	0	0	0	1	0	0	0	17423	1203	42	2	219	2	XDH	2	31560668	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	408346	31560668	211638705	149	89302											
XDH	7498	broad.mit.edu	37	chr2	31570415	31570415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtccattgaggtcagcGctgacagaggcagccgtggg	16	11	1	3	rs45562835		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:31570415G>A	uc002rnv.1	-	29	3328	c.3249C>T	c.(3247-3249)AGC>AGT	p.S1083S		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1083					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	TGAGGTCAGCGCTGACAGAGG	0.582													A	31570415	G	A	31570415	2	1	165	1	0	0	0	0	0	0	0	1	17423	1078	38	1		1	XDH	2	31570415	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	9747	31570415	211628958	150	89303											
BIRC6	57448	broad.mit.edu	37	chr2	32703728	32703728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgcattgcaaatgccaCgaggccaactattcatctgt	8	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:32703728C>T	uc010ezu.2	+	36	7228	c.7094C>T	c.(7093-7095)ACG>ATG	p.T2365M		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2365					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCAAATGCCACGAGGCCAACT	0.373													T	32703728	C	T	32703728	3	4	165	1	0	0	0	0	1	0	0	0	1438	536	19	1	7236	1	BIRC6	2	32703728	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1133313	32703728	210495645	151	89304											
CYP1B1	1545	broad.mit.edu	37	chr2	38298092	38298092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttcttcgccaatgcaccGccttttgcccactgaaaaaa	6	13	1	1	rs28936701		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:38298092G>A	uc002rqo.2	-	4	1808	c.1405C>T	c.(1405-1407)CGG>TGG	p.R469W		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	469					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	CCAATGCACCGCCTTTTGCCC	0.493													A	38298092	G	A	38298092	3	1	165	1	0	0	0	0	1	0	0	0	4151	1086	38	1	230	1	CYP1B1	2	38298092	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5594364	38298092	204901281	152	89305											
DHX57	90957	broad.mit.edu	37	chr2	39082231	39082231	+	Frame_Shift_Del	DEL	C	C	-													taaccgaatctggtatcccaCggtcagacccaccctctctg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:39082230_39082230AC>A	uc002rrf.3	-	7	1973	c.1874_1874GT>T	c.(1873-1875)gtgfs	p.V625fs	DHX57_uc002rrd.4_5'UTR|DHX57_uc002rre.3_Frame_Shift_Del_p.V58fs|DHX57_uc002rrg.3_Frame_Shift_Del_p.V625fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	625	Helicase ATP-binding.						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)				CTGGTATCCCACGGTCAGACC	0.443													-	39082231	C	-	39082231	7	5	165	1	0	1	0	1	0	0	0	0	4513	536	19	0	2355	0	DHX57	2	39082231	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	784139	39082231	204117142	153	89306											
THADA	63892	broad.mit.edu	37	chr2	43799004	43799004	+	Splice_Site	DEL	A	A	-													taatgtatctatccttacctAaaaaacatcaagcaataaaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:43799003_43799003TA>T	uc002rsw.4	-	13	2261	c.1909_splice	c.e13-1	p.V637_splice	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	637							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)				TATCCTTACCTAAAAAACATC	0.318													-	43799004	A	-	43799004	8	5	165	1	0	1	0	1	0	0	1	0	15837	377	13	0		0	THADA	2	43799004	Splice_Site	DEL	A	TCGA-CG-4305-01A-01D-1158-08	4716773	43799004	199400369	154	89307											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					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)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	165	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-CG-4305-01A-01D-1158-08	751549	44550553	198648820	155	89308											
EPCAM	4072	broad.mit.edu	37	chr2	47607055	47607055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtctaaaagctggtgttAttgctgttattgtggttgtg	14	3	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:47607055A>G	uc002rvx.2	+	7	1163	c.805A>G	c.(805-807)ATT>GTT	p.I269V	EPCAM_uc002rvw.2_Missense_Mutation_p.I297V	NM_002354	NP_002345	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule precursor	269	Helical; (Potential).				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding			skin(1)	1						Agctggtgttattgctgttat	0.239									Lynch_syndrome				G	47607055	A	G	47607055	3	3	165	1	0	0	0	0	1	0	0	0	5162	449	16	3	831	3	EPCAM	2	47607055	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	3056502	47607055	195592318	156	89309											
LHCGR	3973	broad.mit.edu	37	chr2	48925846	48925846	+	Frame_Shift_Del	DEL	T	T	-													aatgtttctcttgatggcaaTttttttagagaataggatga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:48925845_48925845AT>A	uc002rwu.4	-	8	845	c.775_775AT>T	c.(775-777)ttgfs	p.L259fs	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	259					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)	CTTGATGGCAATTTTTTTAGA	0.453													-	48925846	T	-	48925846	7	5	165	1	0	1	0	1	0	0	0	0	8762	1490	52	0	1337	0	LHCGR	2	48925846	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1318791	48925846	194273527	157	89310											
ASB3	51130	broad.mit.edu	37	chr2	53927628	53927628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttatctgggctccatAtttcaaaagaatgttcacaa	5	8	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:53927628A>G	uc002rxg.1	-	8	1153	c.1018T>C	c.(1018-1020)TAT>CAT	p.Y340H	ASB3_uc002rxh.1_Missense_Mutation_p.Y267H|ASB3_uc002rxi.3_Missense_Mutation_p.Y378H|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	340	ANK 10.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGGCTCCATATTTCAAAAGA	0.348													G	53927628	A	G	53927628	3	3	165	1	0	0	0	0	1	0	0	0	1024	449	16	3	550	3	ASB3	2	53927628	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5001782	53927628	189271745	158	89311											
CCDC85A	114800	broad.mit.edu	37	chr2	56603069	56603069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggtacattctcttaAggtaaccaatcgtgtgcaac	8	10	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:56603069A>G	uc002rzn.2	+	5	2073	c.1571A>G	c.(1570-1572)AAG>AGG	p.K524R		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	524										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATTCTCTTAAGGTAACCAAT	0.493													G	56603069	A	G	56603069	3	3	165	1	0	0	0	0	1	0	0	0	2859	86	3	3	1589	3	CCDC85A	2	56603069	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2675441	56603069	186596304	159	89312											
KIAA1841	84542	broad.mit.edu	37	chr2	61343153	61343153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcactagacaaccaaAaaagcaggtatcttcaccct	6	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:61343153A>G	uc002saw.3	+	17	2087	c.1784A>G	c.(1783-1785)AAA>AGA	p.K595R	KIAA1841_uc002sax.3_Missense_Mutation_p.K449R|KIAA1841_uc002say.2_Missense_Mutation_p.K595R	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	595											0			Epithelial(17;0.193)			AGACAACCAAAAAAGCAGGTA	0.378													G	61343153	A	G	61343153	3	3	165	1	0	0	0	0	1	0	0	0	8261	14	1	3	1842	3	KIAA1841	2	61343153	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4740084	61343153	181856220	160	89313											
USP34	9736	broad.mit.edu	37	chr2	61575028	61575028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggtggtggtgatggtgGtggtggtggtggtgatgctg	23	2	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:61575028G>A	uc002sbe.2	-	15	2284	c.2262C>T	c.(2260-2262)CAC>CAT	p.H754H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	754					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ggtgatggtggtggtggtggt	0.284													A	61575028	G	A	61575028	2	1	165	1	0	0	0	0	0	0	0	1	17062	1252	44	4		4	USP34	2	61575028	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	231875	61575028	181624345	161	89314											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		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)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	165	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-CG-4305-01A-01D-1158-08	2499	61577527	181621846	162	89315											
FAM161A	84140	broad.mit.edu	37	chr2	62067454	62067454	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggcacccattcttttcGtttcttccttcttttttcag	6	11	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:62067454G>A	uc010ypo.1	-	3	787	c.685C>T	c.(685-687)CGA>TGA	p.R229*	FAM161A_uc002sbm.3_Nonsense_Mutation_p.R229*|FAM161A_uc002sbn.3_Nonsense_Mutation_p.R39*|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Nonsense_Mutation_p.R120*	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	229					response to stimulus|visual perception	centrosome		p.R229W(1)		large_intestine(2)|ovary(1)	3						CATTCTTTTCGTTTCTTCCTT	0.373													A	62067454	G	A	62067454	4	1	165	1	0	0	0	0	0	1	0	0	5472	1153	40	1	1313	1	FAM161A	2	62067454	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	489927	62067454	181131919	163	89316											
GKN1	56287	broad.mit.edu	37	chr2	69204842	69204842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcaacaatgaacacaAtgtggccaatgttgacaata	9	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:69204842A>C	uc002sfc.2	+	3	245	c.182A>C	c.(181-183)AAT>ACT	p.N61T		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	18 kDa antrum mucosa protein precursor	61					digestion|positive regulation of cell division	extracellular region				breast(1)	1						AATGAACACAATGTGGCCAAT	0.398													C	69204842	A	C	69204842	3	2	165	1	0	0	0	0	1	0	0	0	6424	101	4	5	192	5	GKN1	2	69204842	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	7137388	69204842	173994531	164	89317											
PCYOX1	51449	broad.mit.edu	37	chr2	70486622	70486622	+	Frame_Shift_Del	DEL	G	G	-													ctggctaccatgatggtgcaGgggcaagaatacgaggcagg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:70486621_70486621AG>A	uc002sgn.4	+	1	308	c.242_242AG>A	c.(241-243)cagfs	p.Q81fs	PCYOX1_uc010fdo.3_Frame_Shift_Del_p.Q4fs|PCYOX1_uc010yqu.2_Frame_Shift_Del_p.Q81fs	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	81					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						ATGATGGTGCAGGGGCAAGAA	0.483													-	70486622	G	-	70486622	7	5	165	1	0	1	0	1	0	0	0	0	11608	991	35	0	249	0	PCYOX1	2	70486622	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1281780	70486622	172712751	165	89318											
CYP26B1	56603	broad.mit.edu	37	chr2	72371250	72371250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcttgcgcacgttctcCgcgccggtcacgcgtatcag	12	14	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:72371250C>T	uc002sih.1	-	2	297	c.297G>A	c.(295-297)GCG>GCA	p.A99A	CYP26B1_uc010yra.1_Silent_p.A82A|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	99					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			skin(2)	2						GCACGTTCTCCGCGCCGGTCA	0.632													T	72371250	C	T	72371250	2	4	165	1	0	0	0	0	0	0	0	1	4156	639	23	1		1	CYP26B1	2	72371250	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1884628	72371250	170828123	166	89319											
ALMS1	7840	broad.mit.edu	37	chr2	73677405	73677405	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggtattttctaccaaCaggtcttgccagataatcat	7	10	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:73677405C>T	uc002sje.1	+	10	3865	c.3754C>T	c.(3754-3756)CAG>TAG	p.Q1252*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1208*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.Q638*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q638*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1250	16.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTTCTACCAACAGGTCTTGCC	0.478													T	73677405	C	T	73677405	4	4	165	1	0	0	0	0	0	1	0	0	535	479	17	4	3778	4	ALMS1	2	73677405	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1306155	73677405	169521968	167	89320											
ALMS1	7840	broad.mit.edu	37	chr2	73784458	73784458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggctaaagaaaaagAatctttgcagaaagatactg	9	7	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:73784458A>G	uc002sje.1	+	16	10304	c.10193A>G	c.(10192-10194)GAA>GGA	p.E3398G	ALMS1_uc002sjf.1_Missense_Mutation_p.E3354G|ALMS1_uc002sjg.2_Missense_Mutation_p.E2784G|ALMS1_uc002sjh.1_Missense_Mutation_p.E2784G|ALMS1_uc010fev.1_Missense_Mutation_p.E156G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3396					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AAAGAAAAAGAATCTTTGCAG	0.413													G	73784458	A	G	73784458	3	3	165	1	0	0	0	0	1	0	0	0	535	246	9	3	10241	3	ALMS1	2	73784458	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	107053	73784458	169414915	168	89321											
AUP1	550	broad.mit.edu	37	chr2	74755993	74755993	+	Frame_Shift_Del	DEL	C	C	-													cttgagtgactccaccaactCcccccgcccattcatctcca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:74755992_74755992TC>T	uc002smh.3	-	2	824	c.137_137GA>A	c.(136-138)gagfs	p.E46fs	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Frame_Shift_Del_p.E137fs|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Frame_Shift_Del_p.E194fs|AUP1_uc021vjm.1_Frame_Shift_Del_p.E46fs|AUP1_uc010yry.2_3'UTR|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	203						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CTCCACCAACTCCCCCCGCCC	0.582													-	74755993	C	-	74755993	7	5	165	1	0	1	0	1	0	0	0	0	1220	864	30	0	859	0	AUP1	2	74755993	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	971535	74755993	168443380	169	89322											
HTRA2	27429	broad.mit.edu	37	chr2	74757166	74757166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcggggcggggtgcaggCtggagccttcgggcatggcg	23	9	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:74757166C>T	uc002smi.1	+	1	635	c.33C>T	c.(31-33)GGC>GGT	p.G11G	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.G11G|HTRA2_uc002smk.1_Silent_p.G11G|HTRA2_uc002sml.1_Silent_p.G11G|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	11					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GGGGTGCAGGCTGGAGCCTTC	0.716													T	74757166	C	T	74757166	2	4	165	1	0	0	0	0	0	0	0	1	7454	784	28	2		2	HTRA2	2	74757166	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1173	74757166	168442207	170	89323											
SUCLG1	8802	broad.mit.edu	37	chr2	84660507	84660507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgccccaatccaacttgCgttgtttggtgaactgcttc	9	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:84660507C>T	uc002son.2	-	6	835	c.642G>A	c.(640-642)ACG>ACA	p.T214T	SUCLG1_uc010ysk.1_Silent_p.T201T	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	214					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	ATCCAACTTGCGTTGTTTGGT	0.378													T	84660507	C	T	84660507	2	4	165	1	0	0	0	0	0	0	0	1	15363	755	27	1		1	SUCLG1	2	84660507	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	9903341	84660507	158538866	171	89324											
ST3GAL5	8869	broad.mit.edu	37	chr2	86075232	86075232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaagggagtaagtccacGctatacctgtgctcaaataa	8	9	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:86075232G>A	uc002sqq.1	-	4	543	c.414C>T	c.(412-414)AGC>AGT	p.S138S	ST3GAL5_uc010fgq.1_Silent_p.S10S|ST3GAL5_uc002sqp.1_Silent_p.S115S	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	138	Lumenal (Potential).				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				0						GTAAGTCCACGCTATACCTGT	0.488													A	86075232	G	A	86075232	2	1	165	1	0	0	0	0	0	0	0	1	15217	1078	38	1		1	ST3GAL5	2	86075232	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1414725	86075232	157124141	172	89325											
SMYD1	150572	broad.mit.edu	37	chr2	88390622	88390622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcctggtgaaccatgActgttggcccaactgtactg	12	12	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:88390622A>C	uc002ssr.2	+	4	622	c.620A>C	c.(619-621)GAC>GCC	p.D207A	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	207	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GTGAACCATGACTGTTGGCCC	0.512													C	88390622	A	C	88390622	3	2	165	1	0	0	0	0	1	0	0	0	14821	275	10	5	634	5	SMYD1	2	88390622	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2315390	88390622	154808751	173	89326											
FER1L5	90342	broad.mit.edu	37	chr2	97369018	97369020	+	In_Frame_Del	DEL	AAG	AAG	-													acaagcacttctccctctttAagaagaagactgtgactggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:97369017_97369019TAAG>T	uc010fia.3	+	48	5733_5735	c.5733_5735TAAG>T	c.(5731-5736)tttaag>ttTg	p.K1914del	FER1L5_uc002sws.4_In_Frame_Del_p.K623del|FER1L5_uc010yus.2_In_Frame_Del_p.K622del	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1914						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						TCTCCCTCTTTAAGAAGAAGACT	0.576													-	97369020	AAG	-	97369018	7	5	165	1	0	1	0	1	0	0	0	0	5814	363	13	0	5928	0	FER1L5	2	97369018	In_Frame_Del	DEL	AAG	TCGA-CG-4305-01A-01D-1158-08	8978396	97369018	145830355	174	89327											
PDCL3	79031	broad.mit.edu	37	chr2	101192940	101192940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcatgaagagggacagCgattccgagggtgactgagg	16	8	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:101192940C>T	uc002tao.2	+	6	814	c.702C>T	c.(700-702)AGC>AGT	p.S234S		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	234					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						AGAGGGACAGCGATTCCGAGG	0.463													T	101192940	C	T	101192940	2	4	165	1	0	0	0	0	0	0	0	1	11628	767	27	1		1	PDCL3	2	101192940	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3823922	101192940	142006433	175	89328											
MAP4K4	9448	broad.mit.edu	37	chr2	102499030	102499030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcaaaaaggataagttaCgtgtctactatttgtcctgg	10	6	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:102499030C>T	uc002tbg.2	+	25	3023	c.2968C>T	c.(2968-2970)CGT>TGT	p.R990C	MAP4K4_uc002tbc.2_Missense_Mutation_p.R1071C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R963C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R909C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R1024C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R986C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R908C|MAP4K4_uc002tbi.2_Missense_Mutation_p.R793C|MAP4K4_uc010yvz.1_Missense_Mutation_p.R1030C|MAP4K4_uc002tbk.2_Missense_Mutation_p.R445C|MAP4K4_uc002tbl.2_Missense_Mutation_p.R176C	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	990	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			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GGATAAGTTACGTGTCTACTA	0.338													T	102499030	C	T	102499030	3	4	165	1	0	0	0	0	1	0	0	0	9262	536	19	1	3317	1	MAP4K4	2	102499030	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1306090	102499030	140700343	176	89329											
GPR45	11250	broad.mit.edu	37	chr2	105858406	105858406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggtccacccagttgcccGcacccctcaggatctccttg	10	18	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:105858406G>A	uc002tco.1	+	1	207	c.91G>A	c.(91-93)GCA>ACA	p.A31T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	31	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CCAGTTGCCCGCACCCCTCAG	0.602													A	105858406	G	A	105858406	3	1	165	1	0	0	0	0	1	0	0	0	6696	1087	38	1	93	1	GPR45	2	105858406	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3359376	105858406	137340967	177	89330											
GCC2	9648	broad.mit.edu	37	chr2	109088059	109088059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttatttgttaaaactcaGttgtatggttttcttaaaga	7	3	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:109088059G>A	uc002tec.2	+	6	2428	c.2274G>A	c.(2272-2274)CAG>CAA	p.Q758Q	GCC2_uc002ted.2_Silent_p.Q657Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	758	Potential.				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			ovary(1)	1						TTAAAACTCAGTTGTATGGTT	0.338													A	109088059	G	A	109088059	2	1	165	1	0	0	0	0	0	0	0	1	6286	1020	36	4		4	GCC2	2	109088059	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3229653	109088059	134111314	178	89331											
ANKRD57	65124	broad.mit.edu	37	chr2	110373584	110373584	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggagtgggggaggaAcgacctgttaaaggccactc	18	7	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:110373584A>G	uc002tfb.2	+	1	1674	c.1518A>G	c.(1516-1518)GAA>GAG	p.E506E	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	506											0						TGGGGGAGGAACGACCTGTTA	0.498													G	110373584	A	G	110373584	2	3	165	1	0	0	0	0	0	0	0	1	683	40	2	3		3	ANKRD57	2	110373584	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1285525	110373584	132825789	179	89332											
ACOXL	55289	broad.mit.edu	37	chr2	111556607	111556607	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagggccccactgtttcatCgttcctgtccgggatgaaaa	10	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:111556607C>T	uc002tgr.3	+	7	701	c.477C>T	c.(475-477)ATC>ATT	p.I159I	ACOXL_uc010fkc.2_Silent_p.I159I|ACOXL_uc010yxk.1_Silent_p.I159I	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	159					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						ACTGTTTCATCGTTCCTGTCC	0.468													T	111556607	C	T	111556607	2	4	165	1	0	0	0	0	0	0	0	1	161	874	31	1		1	ACOXL	2	111556607	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1183023	111556607	131642766	180	89333											
IL1F8	27177	broad.mit.edu	37	chr2	113788675	113788675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattaaagaatttccactcAggacccacaccatctgtcga	5	13	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:113788675A>G	uc002tiq.1	-	3	175	c.71T>C	c.(70-72)CTG>CCG	p.L24P	IL1F8_uc002tir.1_Missense_Mutation_p.L24P	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	interleukin 1 family, member 8 isoform 1	24					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1						ATTTCCACTCAGGACCCACAC	0.468													G	113788675	A	G	113788675	3	3	165	1	0	0	0	0	1	0	0	0	7656	188	7	3	656	3	IL1F8	2	113788675	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2232068	113788675	129410698	181	89334											
TFCP2L1	29842	broad.mit.edu	37	chr2	121992863	121992863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatctggaccaaatcatctCgggacatcttcagcaagtca	8	11	6	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:121992863C>T	uc002tmx.2	-	11	1121	c.1028G>A	c.(1027-1029)CGA>CAA	p.R343Q	TFCP2L1_uc010flr.2_Missense_Mutation_p.R343Q|TFCP2L1_uc010flq.2_5'Flank	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	343					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					CAAATCATCTCGGGACATCTT	0.557													T	121992863	C	T	121992863	3	4	165	1	0	0	0	0	1	0	0	0	15793	884	31	1	431	1	TFCP2L1	2	121992863	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8204188	121992863	121206510	182	89335											
GPR17	2840	broad.mit.edu	37	chr2	128408876	128408876	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtaccgggagaaggcCtcccaccatgccctggtgtc	12	15	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:128408876C>A	uc010yzn.1	+	4	1262	c.651C>A	c.(649-651)GCC>GCA	p.A217A	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.A217A|GPR17_uc010yzo.1_Silent_p.A189A|GPR17_uc002tpd.2_Silent_p.A189A	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	217	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGGAGAAGGCCTCCCACCATG	0.667													A	128408876	C	A	128408876	2	1	165	1	0	0	0	0	0	0	0	1	6667	668	24	5		5	GPR17	2	128408876	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6416013	128408876	114790497	183	89336											
TUBA3D	113457	broad.mit.edu	37	chr2	132240222	132240222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacaccacggccattgCggaggcctgggcccgcctgg	15	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:132240222C>T	uc002tsu.3	+	5	1261	c.1154C>T	c.(1153-1155)GCG>GTG	p.A385V		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	385					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACGGCCATTGCGGAGGCCTGG	0.632													T	132240222	C	T	132240222	3	4	165	1	0	0	0	0	1	0	0	0	16744	768	27	1	1172	1	TUBA3D	2	132240222	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3831346	132240222	110959151	184	89337											
ZRANB3	84083	broad.mit.edu	37	chr2	136107605	136107605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagaagaatggctcgtctGgctttctgtactattggcaa	11	7	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:136107605G>A	uc002tum.2	-	5	657	c.540C>T	c.(538-540)GCC>GCT	p.A180A	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.A180A|ZRANB3_uc002tun.1_Silent_p.A120A	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	180	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGGCTCGTCTGGCTTTCTGTA	0.408													A	136107605	G	A	136107605	2	1	165	1	0	0	0	0	0	0	0	1	18221	1335	47	4		4	ZRANB3	2	136107605	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3867383	136107605	107091768	185	89338											
MCM6	4175	broad.mit.edu	37	chr2	136624231	136624231	+	Frame_Shift_Del	DEL	A	A	-													attccacagcttcagcccttAaaattacttctaaactgcgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:136624230_136624230TA>T	uc002tuw.3	-	4	760	c.684_684TA>A	c.(682-684)ttafs	p.L228fs		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	228					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|cell cycle checkpoint	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)	CTTCAGCCCTTAAAATTACTT	0.478													-	136624231	A	-	136624231	7	5	165	1	0	1	0	1	0	0	0	0	9391	372	13	0	1834	0	MCM6	2	136624231	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	516626	136624231	106575142	186	89339											
GTDC1	79712	broad.mit.edu	37	chr2	144966324	144966324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatgggagcctccatagaAtgcttcaatgatgaggatac	10	7	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:144966324A>G	uc002tvp.2	-	4	304	c.25T>C	c.(25-27)TTC>CTC	p.F9L	GTDC1_uc002tvo.2_Missense_Mutation_p.F9L|GTDC1_uc002tvq.2_Missense_Mutation_p.F9L|GTDC1_uc002tvr.2_Missense_Mutation_p.F9L|GTDC1_uc010fnn.2_Missense_Mutation_p.F9L|GTDC1_uc002tvs.2_5'UTR|GTDC1_uc010fno.2_Intron|GTDC1_uc002tvt.1_Missense_Mutation_p.F9L	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	9					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCTCCATAGAATGCTTCAATG	0.378													G	144966324	A	G	144966324	3	3	165	1	0	0	0	0	1	0	0	0	6851	101	4	3	1387	3	GTDC1	2	144966324	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	8342093	144966324	98233049	187	89340											
TNFAIP6	7130	broad.mit.edu	37	chr2	152220548	152220548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgtgtgaatttgaaggCggccatctcgcaacttacaa	12	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:152220548C>T	uc002txk.2	+	2	262	c.186C>T	c.(184-186)GGC>GGT	p.G62G		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	62	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		AATTTGAAGGCGGCCATCTCG	0.448													T	152220548	C	T	152220548	2	4	165	1	0	0	0	0	0	0	0	1	16272	755	27	1		1	TNFAIP6	2	152220548	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7254224	152220548	90978825	188	89341											
FAP	2191	broad.mit.edu	37	chr2	163030235	163030235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatggaaacacttacctTatagtgctcaagattatcat	5	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:163030235T>C	uc002ucd.2	-	23	2240	c.2032A>G	c.(2032-2034)AAG>GAG	p.K678E	FAP_uc010fpc.2_Missense_Mutation_p.K227E|FAP_uc010zct.1_Missense_Mutation_p.K653E|FAP_uc010fpd.2_Missense_Mutation_p.K157E	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	678	Extracellular (Potential).				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			ovary(3)	3						ACACTTACCTTATAGTGCTCA	0.318													C	163030235	T	C	163030235	3	2	165	1	0	0	0	0	1	0	0	0	5673	1763	61	3	266	3	FAP	2	163030235	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	10809687	163030235	80169138	189	89342											
IFIH1	64135	broad.mit.edu	37	chr2	163163274	163163274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgagttattctccatgccCcagacctccttctccagatt	6	14	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:163163274C>A	uc002uce.2	-	3	936	c.714G>T	c.(712-714)TGG>TGT	p.W238C		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	238					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			ovary(1)	1						TCTCCATGCCCCAGACCTCCT	0.388													A	163163274	C	A	163163274	3	1	165	1	0	0	0	0	1	0	0	0	7520	624	22	5	2419	5	IFIH1	2	163163274	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	133039	163163274	80036099	190	89343											
CSRNP3	80034	broad.mit.edu	37	chr2	166536038	166536038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttccgaaaatgatagCggtgtgccctgcaatagttt	9	10	1	1	rs144711438		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:166536038C>T	uc002udf.2	+	7	1909	c.1533C>T	c.(1531-1533)AGC>AGT	p.S511S	CSRNP3_uc002udg.2_Silent_p.S511S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	511					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						AAAATGATAGCGGTGTGCCCT	0.502													T	166536038	C	T	166536038	2	4	165	1	0	0	0	0	0	0	0	1	3965	767	27	1		1	CSRNP3	2	166536038	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3372764	166536038	76663335	191	89344											
SCN1A	6323	broad.mit.edu	37	chr2	166859173	166859173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaaacaaatttacgcCcatgatgctgaaaattagcc	7	11	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:166859173C>A	uc010zcz.1	-	21	4078	c.4060G>T	c.(4060-4062)GGC>TGC	p.G1354C	SCN1A_uc002udo.3_Missense_Mutation_p.G1234C|SCN1A_uc010fpk.2_Missense_Mutation_p.G1206C	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1365	III.|Helical; Name=S5 of repeat III; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAATTTACGCCCATGATGCTG	0.393													A	166859173	C	A	166859173	3	1	165	1	0	0	0	0	1	0	0	0	13914	623	22	5	1960	5	SCN1A	2	166859173	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	323135	166859173	76340200	192	89345											
SCN9A	6335	broad.mit.edu	37	chr2	167055359	167055359	+	Frame_Shift_Del	DEL	T	T	-													acattatcaaaagccatatcTtttttattgagtaaatcatc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:167055358_167055358CT>C	uc010fpl.3	-	26	6099	c.5758_5758AG>G	c.(5758-5760)gatfs	p.D1920fs	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1931						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)	AAAGCCATATCTTTTTTATTG	0.353													-	167055359	T	-	167055359	7	5	165	1	0	1	0	1	0	0	0	0	13925	1606	56	0	180	0	SCN9A	2	167055359	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	196186	167055359	76144014	193	89346											
NOSTRIN	115677	broad.mit.edu	37	chr2	169707788	169707788	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttccccttggcattgcaGtgccacacgcagattcactg	9	14	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:169707788G>A	uc002ueg.2	+	10	734	c.730_splice	c.e10-1	p.C244_splice	NOSTRIN_uc002uef.2_Splice_Site_p.C301_splice|NOSTRIN_uc002uei.2_Splice_Site_p.C127_splice|NOSTRIN_uc010fpu.2_Splice_Site_p.C216_splice|NOSTRIN_uc002ueh.2_Splice_Site_p.C166_splice|NOSTRIN_uc002uej.2_Splice_Site_p.C127_splice	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2						endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						TGGCATTGCAGTGCCACACGC	0.428													A	169707788	G	A	169707788	5	1	165	1	0	0	0	0	0	0	1	0	10546	1043	36	4	942	4	NOSTRIN	2	169707788	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2652429	169707788	73491585	194	89347											
TLK1	9874	broad.mit.edu	37	chr2	171850351	171850351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagcccagccatgtgtAggtttcctgaagaatttgat	10	9	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:171850351A>G	uc002ugn.2	-	21	2712	c.2240T>C	c.(2239-2241)CTA>CCA	p.L747P	TLK1_uc002ugo.2_Missense_Mutation_p.L768P|TLK1_uc002ugp.2_Missense_Mutation_p.L699P|TLK1_uc010zdn.1_Missense_Mutation_p.L651P	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	747					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			central_nervous_system(1)	1						AGCCATGTGTAGGTTTCCTGA	0.433													G	171850351	A	G	171850351	3	3	165	1	0	0	0	0	1	0	0	0	15940	420	15	3	64	3	TLK1	2	171850351	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2142563	171850351	71349022	195	89348											
DYNC1I2	1781	broad.mit.edu	37	chr2	172563057	172563058	+	Splice_Site	INS	-	-	T													ctttgtctgtacacttcagtINStttttctgaatactggggta							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:172563056_172563057G>GT	uc002uha.1	+	4	392	c.227_splice	c.e4-1	p.V76_splice	DYNC1I2_uc002uhb.1_Intron|DYNC1I2_uc010zds.1_Intron|DYNC1I2_uc002uhc.3_Intron|DYNC1I2_uc002uhd.1_Intron|DYNC1I2_uc002uhe.1_Splice_Site_p.V76_splice|DYNC1I2_uc002uhf.1_Intron|DYNC1I2_uc010zdt.1_Intron|DYNC1I2_uc002uhg.1_5'Flank	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	76					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GTACACTTCAGTTTTTTCTGAA	0.332													T	172563058	-	T	172563057	8	5	165	1	0	1	1	0	0	0	1	0	4843	1739	60	0	237	0	DYNC1I2	2	172563057	Splice_Site	INS	-	TCGA-CG-4305-01A-01D-1158-08	712706	172563057	70636316	196	89349											
KIAA1715	80856	broad.mit.edu	37	chr2	176857040	176857040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataccacaaatatacaattAagcatgtaaacagatagaga	6	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:176857040A>G	uc002ukc.1	-	4	369	c.176T>C	c.(175-177)TTA>TCA	p.L59S	KIAA1715_uc010zer.1_Missense_Mutation_p.L59S|KIAA1715_uc010fqw.1_Missense_Mutation_p.L125S|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	59	Helical; (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ATATACAATTAAGCATGTAAA	0.313													G	176857040	A	G	176857040	3	3	165	1	0	0	0	0	1	0	0	0	8254	372	13	3	1150	3	KIAA1715	2	176857040	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4293983	176857040	66342333	197	89350											
EVX2	344191	broad.mit.edu	37	chr2	176947015	176947015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgcgcgatctgctcgCgggtgaacgccgtacggtag	16	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:176947015C>T	uc010zeu.1	-	2	776	c.590G>A	c.(589-591)CGC>CAC	p.R197H		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	197	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GATCTGCTCGCGGGTGAACGC	0.711													T	176947015	C	T	176947015	3	4	165	1	0	0	0	0	1	0	0	0	5295	768	27	1	846	1	EVX2	2	176947015	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	89975	176947015	66252358	198	89351											
HOXD12	3238	broad.mit.edu	37	chr2	176964686	176964686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcgctgccctgggccGccacgcccgcctcctgcgcc	14	22	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:176964686G>A	uc010zev.1	+	1	157	c.157G>A	c.(157-159)GCC>ACC	p.A53T	HOXD12_uc010zew.1_Missense_Mutation_p.A53T	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	53						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GCCCTGGGCCGCCACGCCCGC	0.731													A	176964686	G	A	176964686	3	1	165	1	0	0	0	0	1	0	0	0	7321	1087	38	1	159	1	HOXD12	2	176964686	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	17671	176964686	66234687	199	89352											
RBM45	129831	broad.mit.edu	37	chr2	178982857	178982857	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaggtttgggctacgtaCgatacttaaaaccatcacaa	8	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:178982857C>T	uc002ulv.2	+	3	591	c.499C>T	c.(499-501)CGA>TGA	p.R167*		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	167	RRM 2.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GGGCTACGTACGATACTTAAA	0.333													T	178982857	C	T	178982857	4	4	165	1	0	0	0	0	0	1	0	0	13139	528	19	1	509	1	RBM45	2	178982857	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2018171	178982857	64216516	200	89353											
TTN	7273	broad.mit.edu	37	chr2	179408762	179408762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtcttccagatacagAcaccatcaagcgcaaggagg	12	10	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179408762A>G	uc010zfg.1	-	295	88629	c.88405T>C	c.(88405-88407)TCT>CCT	p.S29469P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S23164P|TTN_uc010zfi.1_Missense_Mutation_p.S23097P|TTN_uc010zfj.1_Missense_Mutation_p.S22972P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30396							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGATACAGACACCATCAAG	0.483													G	179408762	A	G	179408762	3	3	165	1	0	0	0	0	1	0	0	0	16732	275	10	3	11938	3	TTN	2	179408762	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	425905	179408762	63790611	201	89354											
TTN	7273	broad.mit.edu	37	chr2	179414547	179414547	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccacagagtcatcttctcCccagtaatattggtgaatct	6	12	4	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179414547C>A	uc010zfg.1	-	287	84422	c.84198G>T	c.(84196-84198)GGG>GGT	p.G28066G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G21761G|TTN_uc010zfi.1_Silent_p.G21694G|TTN_uc010zfj.1_Silent_p.G21569G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28993							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCTTCTCCCCAGTAATAT	0.423													A	179414547	C	A	179414547	2	1	165	1	0	0	0	0	0	0	0	1	16732	610	22	5		5	TTN	2	179414547	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5785	179414547	63784826	202	89355											
TTN	7273	broad.mit.edu	37	chr2	179422678	179422678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaccaggcctgtctaGcacaacaatgttaatgaaag	11	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179422678G>A	uc010zfg.1	-	277	79923	c.79699C>T	c.(79699-79701)CTA>TTA	p.L26567L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20262L|TTN_uc010zfi.1_Silent_p.L20195L|TTN_uc010zfj.1_Silent_p.L20070L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27494							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTCTAGCACAACAATG	0.448													A	179422678	G	A	179422678	2	1	165	1	0	0	0	0	0	0	0	1	16732	962	34	2		2	TTN	2	179422678	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	8131	179422678	63776695	203	89356											
TTN	7273	broad.mit.edu	37	chr2	179449206	179449206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaatcagataaccaataAtggggctccctccatcacta	6	12	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179449206A>G	uc010zfg.1	-	260	57592	c.57368T>C	c.(57367-57369)ATT>ACT	p.I19123T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I12818T|TTN_uc010zfi.1_Missense_Mutation_p.I12751T|TTN_uc010zfj.1_Missense_Mutation_p.I12626T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20050							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACCAATAATGGGGCTCCC	0.453													G	179449206	A	G	179449206	3	3	165	1	0	0	0	0	1	0	0	0	16732	101	4	3	43115	3	TTN	2	179449206	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	26528	179449206	63750167	204	89357											
TTN	7273	broad.mit.edu	37	chr2	179463686	179463686	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttccagccagtacccTgtcacaggagagcctccatc	7	15	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179463686T>C	uc010zfg.1	-	240	49271	c.49047A>G	c.(49045-49047)ACA>ACG	p.T16349T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T10044T|TTN_uc010zfi.1_Silent_p.T9977T|TTN_uc010zfj.1_Silent_p.T9852T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17276							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGTACCCTGTCACAGGAG	0.463													C	179463686	T	C	179463686	2	2	165	1	0	0	0	0	0	0	0	1	16732	1567	55	3		3	TTN	2	179463686	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	14480	179463686	63735687	205	89358											
TTN	7273	broad.mit.edu	37	chr2	179489284	179489285	+	Frame_Shift_Ins	INS	-	-	G													acagtcatgtataacaagttINSttctgaccctgccatcagca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179489283_179489284T>TG	uc021vsy.1	-	190	37244_37245	c.37019_37020A>CA	c.(37018-37020)aaafs	p.K12340fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.K6035fs|TTN_uc021vta.1_Frame_Shift_Ins_p.K5968fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.K5843fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13267							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)			GTATAACAAGTTTTCTGACCCT	0.381													G	179489285	-	G	179489284	7	5	165	1	0	1	1	0	0	0	0	0	16732	1841	64	0	63454	0	TTN	2	179489284	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	25598	179489284	63710089	206	89359											
TTN	7273	broad.mit.edu	37	chr2	179579734	179579734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgagagcgatggaaccaaCgcaagtgtcgcttcccacat	10	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179579734C>G	uc010zfg.1	-	87	22671	c.22447G>C	c.(22447-22449)GTT>CTT	p.V7483L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4144L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8410							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAACCAACGCAAGTGTCG	0.478													G	179579734	C	G	179579734	3	3	165	1	0	0	0	0	1	0	0	0	16732	536	19	5	78442	5	TTN	2	179579734	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	90450	179579734	63619639	207	89360											
TTN	7273	broad.mit.edu	37	chr2	179632855	179632855	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaccttaatgtccttaAtgtgtttcctaaattctata	4	9	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179632855A>T	uc010zfg.1	-	39	9415	c.9191T>A	c.(9190-9192)ATT>AAT	p.I3064N	TTN_uc010zfh.1_Missense_Mutation_p.I3018N|TTN_uc010zfi.1_Missense_Mutation_p.I3018N|TTN_uc010zfj.1_Missense_Mutation_p.I3018N|TTN_uc002unb.2_Missense_Mutation_p.I3064N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3064							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTCCTTAATGTGTTTCCT	0.299													T	179632855	A	T	179632855	3	4	165	1	0	0	0	0	1	0	0	0	16732	101	4	5	102093	5	TTN	2	179632855	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	53121	179632855	63566518	208	89361											
TTN	7273	broad.mit.edu	37	chr2	179641015	179641015	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgttaccctgcagcggaacCttgcagtctccccttcaagt	8	15	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:179641015C>A	uc010zfg.1	-	28	5800	c.5576G>T	c.(5575-5577)AGG>ATG	p.R1859M	TTN_uc010zfh.1_Missense_Mutation_p.R1813M|TTN_uc010zfi.1_Missense_Mutation_p.R1813M|TTN_uc010zfj.1_Missense_Mutation_p.R1813M|TTN_uc002unb.2_Missense_Mutation_p.R1859M|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1859							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGCGGAACCTTGCAGTCTC	0.483													A	179641015	C	A	179641015	3	1	165	1	0	0	0	0	1	0	0	0	16732	681	24	5	105752	5	TTN	2	179641015	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8160	179641015	63558358	209	89362											
PDE1A	5136	broad.mit.edu	37	chr2	183387016	183387016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcacattcctttcaggcGctgccacattttttcagtct	5	13	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:183387016G>A	uc002uos.2	-	2	172	c.88C>T	c.(88-90)CGC>TGC	p.R30C	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R30C|PDE1A_uc010zfq.1_Missense_Mutation_p.R30C|PDE1A_uc002uov.1_RNA	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	30	Calmodulin-binding (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			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCTTTCAGGCGCTGCCACATT	0.418													A	183387016	G	A	183387016	3	1	165	1	0	0	0	0	1	0	0	0	11633	1087	38	1	1653	1	PDE1A	2	183387016	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3746001	183387016	59812357	210	89363											
ZNF804A	91752	broad.mit.edu	37	chr2	185802311	185802311	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgttggaaaaccaaaatgTcaagctgtagtcaggatcac	10	7	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:185802311T>A	uc002uph.2	+	4	2782	c.2188T>A	c.(2188-2190)TCA>ACA	p.S730T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	730						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AACCAAAATGTCAAGCTGTAG	0.328													A	185802311	T	A	185802311	3	1	165	1	0	0	0	0	1	0	0	0	18167	1667	58	5	2202	5	ZNF804A	2	185802311	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2415295	185802311	57397062	211	89364											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-													caagaacatgactatttcaaGggggggactgatgcagtgtg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:187521084_187521084AG>A	uc002upq.3	+	16	1951	c.1675_1675AG>A	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Del_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Del_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|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|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)		GACTATTTCAAGGGGGGGACT	0.428													-	187521085	G	-	187521085	7	5	165	1	0	1	0	1	0	0	0	0	7888	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1718774	187521085	55678288	212	89365											
CALCRL	10203	broad.mit.edu	37	chr2	188225351	188225351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaataataccacattAaatgttgcttctctgcaaac	4	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:188225351A>G	uc002upv.3	-	10	1303	c.755T>C	c.(754-756)TTA>TCA	p.L252S	CALCRL_uc010frt.2_Missense_Mutation_p.L252S	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	252	Cytoplasmic (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATACCACATTAAATGTTGCTT	0.403													G	188225351	A	G	188225351	3	3	165	1	0	0	0	0	1	0	0	0	2580	372	13	3	654	3	CALCRL	2	188225351	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	704266	188225351	54974022	213	89366											
ANKAR	150709	broad.mit.edu	37	chr2	190554311	190554311	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctatgatgaagacgtgaaTgaagatccaacatatgatcc	8	7	1	7			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:190554311T>C	uc002uqw.1	+	2	447	c.447T>C	c.(445-447)AAT>AAC	p.N149N	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Silent_p.N220N	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	220						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGACGTGAATGAAGATCCAA	0.308													C	190554311	T	C	190554311	2	2	165	1	0	0	0	0	0	0	0	1	623	1461	51	3		3	ANKAR	2	190554311	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2328960	190554311	52645062	214	89367											
PMS1	5378	broad.mit.edu	37	chr2	190732552	190732552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggatctcattatttagaCgttttatataaaatgacagc	6	5	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:190732552C>T	uc002urh.3	+	11	2899	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	PMS1_uc002urk.3_Silent_p.D751D|PMS1_uc002uri.3_Silent_p.D628D|PMS1_uc010zgc.1_Silent_p.D614D|PMS1_uc010zgd.1_Silent_p.D614D|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.D413D|PMS1_uc002urm.2_RNA	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	790					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATTATTTAGACGTTTTATATA	0.328			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					T	190732552	C	T	190732552	2	4	165	1	0	0	0	0	0	0	0	1	12142	535	19	1		1	PMS1	2	190732552	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	178241	190732552	52466821	215	89368											
MYO1B	4430	broad.mit.edu	37	chr2	192265122	192265122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaggctcgaaaaattctGcgggaactgaagcatcaaaa	9	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:192265122G>A	uc010fsg.2	+	22	2565	c.2310G>A	c.(2308-2310)CTG>CTA	p.L770L	MYO1B_uc002usq.2_Silent_p.L770L|MYO1B_uc002usr.2_Silent_p.L770L|MYO1B_uc002usu.2_Silent_p.L44L|MYO1B_uc002usv.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	770	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAAAAATTCTGCGGGAACTGA	0.458													A	192265122	G	A	192265122	2	1	165	1	0	0	0	0	0	0	0	1	10069	1306	46	2		2	MYO1B	2	192265122	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1532570	192265122	50934251	216	89369											
DNAH7	56171	broad.mit.edu	37	chr2	196664111	196664111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagttactgtctccaAatgccttggctaaatcaaag	7	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:196664111A>G	uc002utj.3	-	55	10363	c.10262T>C	c.(10261-10263)TTT>TCT	p.F3421S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3421	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ACTGTCTCCAAATGCCTTGGC	0.453													G	196664111	A	G	196664111	3	3	165	1	0	0	0	0	1	0	0	0	4606	14	1	3	1856	3	DNAH7	2	196664111	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4398989	196664111	46535262	217	89370											
HECW2	57520	broad.mit.edu	37	chr2	197172692	197172692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccatttgctgtatggagTtagatctctgcagcacctgc	10	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:197172692T>G	uc002utm.1	-	11	2735	c.2552A>C	c.(2551-2553)AAC>ACC	p.N851T	HECW2_uc002utl.1_Missense_Mutation_p.N495T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	851	Interaction with TP73.|Potential.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CTGTATGGAGTTAGATCTCTG	0.527													G	197172692	T	G	197172692	3	3	165	1	0	0	0	0	1	0	0	0	7043	1725	60	5	2242	5	HECW2	2	197172692	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	508581	197172692	46026681	218	89371											
GTF3C3	9330	broad.mit.edu	37	chr2	197664327	197664327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgagttccggactgaaCcctgacatgtttacagggtc	11	10	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:197664327C>T	uc002uts.2	-	1	99	c.9G>A	c.(7-9)GGG>GGA	p.G3G	GTF3C3_uc010zgu.1_Silent_p.G3G|GTF3C3_uc002utu.2_Silent_p.G3G	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	3						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CCGGACTGAACCCTGACATGT	0.557													T	197664327	C	T	197664327	2	4	165	1	0	0	0	0	0	0	0	1	6874	494	18	4		4	GTF3C3	2	197664327	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	491635	197664327	45535046	219	89372											
C2orf69	205327	broad.mit.edu	37	chr2	200789806	200789806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attaccatgaaattatgactCgtcatcctgagaattatcaa	5	8	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:200789806C>T	uc010zhb.1	+	2	538	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	119						extracellular region				central_nervous_system(1)	1						AATTATGACTCGTCATCCTGA	0.308													T	200789806	C	T	200789806	3	4	165	1	0	0	0	0	1	0	0	0	2188	884	31	1	361	1	C2orf69	2	200789806	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3125479	200789806	42409567	220	89373											
TRAK2	66008	broad.mit.edu	37	chr2	202257733	202257733	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggattcatgtaacattcCtagacactccatattcctgt	6	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:202257733C>A	uc002uyb.3	-	10	1458	c.1012G>T	c.(1012-1014)GGA>TGA	p.G338*		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	338	Potential.			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0						TGTAACATTCCTAGACACTCC	0.403													A	202257733	C	A	202257733	4	1	165	1	0	0	0	0	0	1	0	0	16447	690	24	5	1760	5	TRAK2	2	202257733	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1467927	202257733	40941640	221	89374											
BMPR2	659	broad.mit.edu	37	chr2	203329559	203329559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcaagaacggctatgtgCgtttaaagatccgtatcagc	10	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:203329559C>T	uc002uzf.3	+	2	1252	c.104C>T	c.(103-105)GCG>GTG	p.A35V	BMPR2_uc010ftr.2_Missense_Mutation_p.A35V|BMPR2_uc002uze.2_Missense_Mutation_p.A35V	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	35	Extracellular (Potential).				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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						CGGCTATGTGCGTTTAAAGAT	0.333													T	203329559	C	T	203329559	3	4	165	1	0	0	0	0	1	0	0	0	1471	768	27	1	110	1	BMPR2	2	203329559	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1071826	203329559	39869814	222	89375											
PARD3B	117583	broad.mit.edu	37	chr2	205989106	205989106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcttccatacatggtccCggtcccatttttgtaaaaaa	6	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:205989106C>T	uc002var.1	+	9	1428	c.1221C>T	c.(1219-1221)CCC>CCT	p.P407P	PARD3B_uc010fub.1_Silent_p.P407P|PARD3B_uc002vao.1_Silent_p.P407P|PARD3B_uc002vap.1_Silent_p.P407P|PARD3B_uc002vaq.1_Silent_p.P407P	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	407	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TACATGGTCCCGGTCCCATTT	0.413													T	205989106	C	T	205989106	2	4	165	1	0	0	0	0	0	0	0	1	11444	639	23	1		1	PARD3B	2	205989106	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2659547	205989106	37210267	223	89376											
NDUFS1	4719	broad.mit.edu	37	chr2	207008772	207008772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcgagagagcgcatcctcCcaagaagtataggttaaaag	11	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:207008772C>A	uc002vbe.2	-	10	1084	c.957G>T	c.(955-957)TGG>TGT	p.W319C	NDUFS1_uc010ziq.1_Missense_Mutation_p.W333C|NDUFS1_uc010zir.1_Missense_Mutation_p.W283C|NDUFS1_uc010zis.1_Missense_Mutation_p.W262C|NDUFS1_uc010zit.1_Missense_Mutation_p.W208C|NDUFS1_uc010ziu.1_Missense_Mutation_p.W203C	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	319					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	GCGCATCCTCCCAAGAAGTAT	0.383													A	207008772	C	A	207008772	3	1	165	1	0	0	0	0	1	0	0	0	10291	624	22	5	1266	5	NDUFS1	2	207008772	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1019666	207008772	36190601	224	89377											
LANCL1	10314	broad.mit.edu	37	chr2	211305366	211305366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggccatgagcagcccCtacataatattcctggtacc	8	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:211305366C>T	uc010zjh.1	-	6	721	c.646G>A	c.(646-648)GGG>AGG	p.G216R	LANCL1_uc002ved.2_Missense_Mutation_p.G216R|LANCL1_uc010fuq.2_Missense_Mutation_p.G216R	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	216						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TGAGCAGCCCCTACATAATAT	0.408													T	211305366	C	T	211305366	3	4	165	1	0	0	0	0	1	0	0	0	8620	681	24	4	573	4	LANCL1	2	211305366	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4296594	211305366	31894007	225	89378											
SPAG16	79582	broad.mit.edu	37	chr2	214204980	214204980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaaaaacaaattaatTaatgacctcaaagggtaagc	7	6	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:214204980T>C	uc002veq.2	+	6	722	c.630T>C	c.(628-630)ATT>ATC	p.I210I	SPAG16_uc010fuz.1_Silent_p.I61I|SPAG16_uc002ver.2_Silent_p.I156I|SPAG16_uc010zjk.1_Silent_p.I116I|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.I179I	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	210	Potential.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		ACAAATTAATTAATGACCTCA	0.289													C	214204980	T	C	214204980	2	2	165	1	0	0	0	0	0	0	0	1	14978	1742	61	3		3	SPAG16	2	214204980	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2899614	214204980	28994393	226	89379											
IGFBP2	3485	broad.mit.edu	37	chr2	217528681	217528681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcaagatgtctctgaacGggcagcgtggggagtgctgg	18	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:217528681G>A	uc010zjt.1	+	6	961	c.811G>A	c.(811-813)GGG>AGG	p.G271R	IGFBP2_uc010zju.1_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	278	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				0		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)		GTCTCTGAACGGGCAGCGTGG	0.617													A	217528681	G	A	217528681	3	1	165	1	0	0	0	0	1	0	0	0	7579	1116	39	1	846	1	IGFBP2	2	217528681	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3323701	217528681	25670692	227	89380											
RUFY4	285180	broad.mit.edu	37	chr2	218940176	218940176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggtcacaggggttctgCtggttgcagagggtcagaga	17	7	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:218940176C>T	uc002vgw.2	+	10	2286	c.442C>T	c.(442-444)CTG>TTG	p.L148L	RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Silent_p.L148L	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	321							metal ion binding			pancreas(1)	1		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGGTTCTGCTGGTTGCAGA	0.602													T	218940176	C	T	218940176	2	4	165	1	0	0	0	0	0	0	0	1	13741	796	28	2		2	RUFY4	2	218940176	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1411495	218940176	24259197	228	89381											
CTDSP1	58190	broad.mit.edu	37	chr2	219268006	219268006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggggggccttccgggccCggctgtttcgagagtcctgc	16	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:219268006C>T	uc002vhy.2	+	6	859	c.523C>T	c.(523-525)CGG>TGG	p.R175W	CTDSP1_uc002vhx.2_Missense_Mutation_p.R174W|CTDSP1_uc002vhz.2_Missense_Mutation_p.R34W	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	175	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			ovary(1)	1		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCGGGCCCGGCTGTTTCG	0.642													T	219268006	C	T	219268006	3	4	165	1	0	0	0	0	1	0	0	0	4003	643	23	1	545	1	CTDSP1	2	219268006	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	327830	219268006	23931367	229	89382											
ZNF142	7701	broad.mit.edu	37	chr2	219508772	219508772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcactaccatctgcacccGcccctctagcaccaatgcct	5	19	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:219508772G>A	uc002vin.2	-	8	2903	c.2467C>T	c.(2467-2469)CGG>TGG	p.R823W	ZNF142_uc002vil.2_Missense_Mutation_p.R784W|ZNF142_uc010fvt.2_Missense_Mutation_p.R660W|ZNF142_uc002vim.2_Missense_Mutation_p.R660W	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		ATCTGCACCCGCCCCTCTAGC	0.577													A	219508772	G	A	219508772	3	1	165	1	0	0	0	0	1	0	0	0	17728	1086	38	1	2608	1	ZNF142	2	219508772	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	240766	219508772	23690601	230	89383											
RNF25	64320	broad.mit.edu	37	chr2	219529239	219529239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacatctacagctgactcaGgttccgcaggggcaggaggc	14	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:219529239G>T	uc002vit.2	-	10	909	c.821C>A	c.(820-822)CCT>CAT	p.P274H	RNF25_uc010fvw.2_Missense_Mutation_p.P162H	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	274					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGACTCAGGTTCCGCAGG	0.552													T	219529239	G	T	219529239	3	4	165	1	0	0	0	0	1	0	0	0	13485	1000	35	5	562	5	RNF25	2	219529239	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	20467	219529239	23670134	231	89384											
SPEG	10290	broad.mit.edu	37	chr2	220348728	220348728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccagccctgcacggccCagcgcccccaaacccagtac	7	22	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:220348728C>T	uc010fwg.2	+	30	6543	c.6543C>T	c.(6541-6543)CCC>CCT	p.P2181P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2181	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		CTGCACGGCCCAGCGCCCCCA	0.657													T	220348728	C	T	220348728	2	4	165	1	0	0	0	0	0	0	0	1	15035	581	21	4		4	SPEG	2	220348728	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	819489	220348728	22850645	232	89385											
PAX3	5077	broad.mit.edu	37	chr2	223158932	223158932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtttggccttcttctcGctttcctctgcctccttcct	6	16	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:223158932G>A	uc010fwo.2	-	4	906	c.540C>T	c.(538-540)AGC>AGT	p.S180S	PAX3_uc002vmt.1_Silent_p.S180S|PAX3_uc002vmy.1_Silent_p.S179S|PAX3_uc002vmv.1_Silent_p.S180S|PAX3_uc002vmw.1_Silent_p.S180S|PAX3_uc002vmx.1_Silent_p.S180S|PAX3_uc002vmz.1_Silent_p.S180S|PAX3_uc002vna.1_Silent_p.S180S	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	180					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/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		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)		CCTTCTTCTCGCTTTCCTCTG	0.607			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223158932	G	A	223158932	2	1	165	1	0	0	0	0	0	0	0	1	11480	1078	38	1		1	PAX3	2	223158932	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2810204	223158932	20040441	233	89386											
MOGAT1	116255	broad.mit.edu	37	chr2	223559161	223559161	+	Frame_Shift_Del	DEL	G	G	-													acatctctgtcattgtccttGggggtgcaaaagaatcactg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:223559160_223559160TG>T	uc010fws.1	+	3	606	c.558_558TG>T	c.(556-558)cttfs	p.L186fs	MOGAT1_uc010fwt.1_Frame_Shift_Del_p.L146fs	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	186					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)		TCATTGTCCTTGGGGGTGCAA	0.443													-	223559161	G	-	223559161	7	5	165	1	0	1	0	1	0	0	0	0	9694	1348	47	0	573	0	MOGAT1	2	223559161	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	400229	223559161	19640212	234	89387											
TRIP12	9320	broad.mit.edu	37	chr2	230638845	230638845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaaattgtggatagtgaCtggtatatccttccctcctt	7	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:230638845C>T	uc002vpw.1	-	37	5546	c.5437G>A	c.(5437-5439)GTC>ATC	p.V1813I	TRIP12_uc002vpx.1_Missense_Mutation_p.V1861I|TRIP12_uc002vpy.1_Missense_Mutation_p.V1543I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1813					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		TGGATAGTGACTGGTATATCC	0.453													T	230638845	C	T	230638845	3	4	165	1	0	0	0	0	1	0	0	0	16553	565	20	4	561	4	TRIP12	2	230638845	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7079684	230638845	12560528	235	89388											
ECEL1	9427	broad.mit.edu	37	chr2	233350722	233350722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggacgctcctccgcgccGcccaggtcccagcccccgca	10	24	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:233350722G>A	uc002vsv.2	-	2	847	c.642C>T	c.(640-642)GGC>GGT	p.G214G	ECEL1_uc010fya.1_Silent_p.G214G|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	214	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		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)		CCTCCGCGCCGCCCAGGTCCC	0.711													A	233350722	G	A	233350722	2	1	165	1	0	0	0	0	0	0	0	1	4891	1074	38	1		1	ECEL1	2	233350722	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2711877	233350722	9848651	236	89389											
AGAP1	116987	broad.mit.edu	37	chr2	236957834	236957834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggccagtcgagctcatcAaggtgatgtcatccatcggg	12	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:236957834A>G	uc002vvs.2	+	16	2618	c.2023A>G	c.(2023-2025)AAG>GAG	p.K675E	AGAP1_uc002vvt.2_Missense_Mutation_p.K622E	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	675	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CGAGCTCATCAAGGTGATGTC	0.572													G	236957834	A	G	236957834	3	3	165	1	0	0	0	0	1	0	0	0	366	131	5	3	2085	3	AGAP1	2	236957834	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	3607112	236957834	6241539	237	89390											
UBE2F	140739	broad.mit.edu	37	chr2	238944574	238944574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagaacatcatttgcGggacaaggtgagccagtaac	12	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:238944574G>A	uc002vxk.2	+	9	591	c.500G>A	c.(499-501)CGG>CAG	p.R167Q	UBE2F_uc010znn.1_Missense_Mutation_p.R135Q|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_3'UTR|SCLY_uc002vxm.3_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	167					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CATCATTTGCGGGACAAGGTG	0.368													A	238944574	G	A	238944574	3	1	165	1	0	0	0	0	1	0	0	0	16852	1116	39	1	530	1	UBE2F	2	238944574	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1986740	238944574	4254799	238	89391											
GPC1	2817	broad.mit.edu	37	chr2	241401875	241401875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcaagcaggccgaggCgctgcggcccttcggggagg	19	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:241401875C>T	uc002vyw.3	+	3	814	c.593C>T	c.(592-594)GCG>GTG	p.A198V		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	198					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		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)		CAGGCCGAGGCGCTGCGGCCC	0.711													T	241401875	C	T	241401875	3	4	165	1	0	0	0	0	1	0	0	0	6597	768	27	1	603	1	GPC1	2	241401875	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2457301	241401875	1797498	239	89392											
KIF1A	547	broad.mit.edu	37	chr2	241679772	241679772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtggtccaccacggcCgggatgtaactggaagagag	15	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:241679772C>T	uc002vzy.2	-	34	3602	c.3456G>A	c.(3454-3456)CCG>CCA	p.P1152P	KIF1A_uc010fzk.2_Silent_p.P1253P|KIF1A_uc002vzz.1_Silent_p.P1253P	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1152					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		CCACCACGGCCGGGATGTAAC	0.652													T	241679772	C	T	241679772	2	4	165	1	0	0	0	0	0	0	0	1	8283	639	23	1		1	KIF1A	2	241679772	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	277897	241679772	1519601	240	89393											
PPP1R7	5510	broad.mit.edu	37	chr2	242105795	242105795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgcagaacctggtgaAcctgcgggagctgtacctta	14	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:242105795A>G	uc002wat.1	+	8	773	c.758A>G	c.(757-759)AAC>AGC	p.N253S	PPP1R7_uc010fzm.1_Missense_Mutation_p.N237S|PPP1R7_uc002war.2_Missense_Mutation_p.N247S|PPP1R7_uc002was.2_Missense_Mutation_p.N253S|PPP1R7_uc002wau.1_Missense_Mutation_p.N210S|PPP1R7_uc002wav.1_Missense_Mutation_p.N179S	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	253	LRR 9.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		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)		AACCTGGTGAACCTGCGGGAG	0.552													G	242105795	A	G	242105795	3	3	165	1	0	0	0	0	1	0	0	0	12376	43	2	3	788	3	PPP1R7	2	242105795	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	426023	242105795	1093578	241	89394											
HDLBP	3069	broad.mit.edu	37	chr2	242179413	242179413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtccttgtcctcagccGcagggaagatgacacgtgct	12	13	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:242179413G>A	uc002waz.2	-	18	2522	c.2294C>T	c.(2293-2295)GCG>GTG	p.A765V	HDLBP_uc002wba.2_Missense_Mutation_p.A765V|HDLBP_uc002wbb.2_Missense_Mutation_p.A717V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	765	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		GTCCTCAGCCGCAGGGAAGAT	0.577													A	242179413	G	A	242179413	3	1	165	1	0	0	0	0	1	0	0	0	7025	1087	38	1	1556	1	HDLBP	2	242179413	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	73618	242179413	1019960	242	89395											
HDLBP	3069	broad.mit.edu	37	chr2	242203935	242203935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggttcctgggcactttcCaggcaagcagctttctcagg	13	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr2:242203935C>A	uc002waz.2	-	4	390	c.162G>T	c.(160-162)CTG>CTT	p.L54L	HDLBP_uc002wba.2_Silent_p.L54L|HDLBP_uc002wbb.2_Silent_p.L75L|HDLBP_uc010fzn.1_5'UTR|uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	54					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		GGGCACTTTCCAGGCAAGCAG	0.507													A	242203935	C	A	242203935	2	1	165	1	0	0	0	0	0	0	0	1	7025	581	21	5		5	HDLBP	2	242203935	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	24522	242203935	995438	243	89396											
GRM7	2917	broad.mit.edu	37	chr3	7456819	7456819	+	Frame_Shift_Del	DEL	A	A	-													aagttgacgattagtgggtcAaaaaaagaagacacagatcg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:7456818_7456818CA>C	uc003bqm.2	+	4	1416	c.1142_1142CA>C	c.(1141-1143)tcafs	p.S381fs	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bql.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	381					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	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.S381T(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)	ATTAGTGGGTCAAAAAAAGAA	0.423													-	7456819	A	-	7456819	7	5	165	1	0	1	0	1	0	0	0	0	6802	117	5	0	1161	0	GRM7	3	7456819	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08		7456819	190565611	244	89397											
BRPF1	7862	broad.mit.edu	37	chr3	9776150	9776150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcatggccgcgtccaccGcatcagcatctttgacaacc	8	16	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:9776150G>A	uc003bse.2	+	2	725	c.326G>A	c.(325-327)CGC>CAC	p.R109H	BRPF1_uc003bsf.2_Missense_Mutation_p.R109H|BRPF1_uc003bsg.2_Missense_Mutation_p.R109H|BRPF1_uc011ati.1_Missense_Mutation_p.R109H	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	109	Interaction with MYST3 and MYST4.				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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CGCGTCCACCGCATCAGCATC	0.602													A	9776150	G	A	9776150	3	1	165	1	0	0	0	0	1	0	0	0	1520	1087	38	1	328	1	BRPF1	3	9776150	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2319331	9776150	188246280	245	89398											
TTLL3	26140	broad.mit.edu	37	chr3	9876804	9876804	+	Frame_Shift_Del	DEL	C	C	-													gctctcctgtgcctccgaggCccccagctggaagtgccttg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:9876803_9876803GC>G	uc003btg.3	+	12	2425	c.1949_1949GC>G	c.(1948-1950)ggcfs	p.G650fs	TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	650					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)					TGCCTCCGAGGCCCCCAGCTG	0.577													-	9876804	C	-	9876804	7	5	165	1	0	1	0	1	0	0	0	0	16725	726	26	0	1996	0	TTLL3	3	9876804	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	100654	9876804	188145626	246	89399											
FANCD2	2177	broad.mit.edu	37	chr3	10130535	10130535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctggagcacacagagaGcattctgaaggccatagagg	12	10	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:10130535G>A	uc003buw.2	+	36	3662	c.3584G>A	c.(3583-3585)AGC>AAC	p.S1195N	FANCD2_uc003bux.1_Missense_Mutation_p.S1195N|FANCD2_uc003buy.1_Missense_Mutation_p.S1195N|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1195					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CACACAGAGAGCATTCTGAAG	0.433			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	10130535	G	A	10130535	3	1	165	1	0	0	0	0	1	0	0	0	5665	971	34	2	3722	2	FANCD2	3	10130535	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	253731	10130535	187891895	247	89400											
PPARG	5468	broad.mit.edu	37	chr3	12434182	12434182	+	Frame_Shift_Del	DEL	A	A	-													atcttaactgtcggatccacAaaaaaagtagaaataaatgt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:12434181_12434181CA>C	uc003bwx.3	+	3	640	c.549_549CA>C	c.(547-549)cacfs	p.H183fs	PPARG_uc003bwr.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bws.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwu.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwv.3_Frame_Shift_Del_p.H155fs|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Frame_Shift_Del_p.H155fs|PPARG_uc003bww.1_Frame_Shift_Del_p.H183fs	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	183					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)	GTCGGATCCACAAAAAAAGTA	0.363			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						-	12434182	A	-	12434182	7	5	165	1	0	1	0	1	0	0	0	0	12299	131	5	0	564	0	PPARG	3	12434182	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	2303647	12434182	185588248	248	89401											
CAPN7	23473	broad.mit.edu	37	chr3	15288865	15288865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggagtggtcagagtgctgGaggatgtggaaatttccaag	17	4	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:15288865G>A	uc003bzn.2	+	19	2375	c.2105G>A	c.(2104-2106)GGA>GAA	p.G702E		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	702	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						CAGAGTGCTGGAGGATGTGGA	0.368													A	15288865	G	A	15288865	3	1	165	1	0	0	0	0	1	0	0	0	2631	1174	41	4	2179	4	CAPN7	3	15288865	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2854683	15288865	182733565	249	89402											
GALNTL2	117248	broad.mit.edu	37	chr3	16217107	16217107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaagaagaggagttgaCcccgttcagcctggacccac	12	12	2	4	rs145670083	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:16217107C>T	uc003car.3	+	1	924	c.449C>T	c.(448-450)ACC>ATC	p.T150I	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	150	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GAGGAGTTGACCCCGTTCAGC	0.632													T	16217107	C	T	16217107	3	4	165	1	0	0	0	0	1	0	0	0	6222	507	18	4	451	4	GALNTL2	3	16217107	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	928242	16217107	181805323	250	89403											
TBC1D5	9779	broad.mit.edu	37	chr3	17202725	17202725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaattccctctatcagtGcaccctggcgtttctgaaga	9	12	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:17202725G>A	uc003cbf.2	-	22	3783	c.2118C>T	c.(2116-2118)TGC>TGT	p.C706C	TBC1D5_uc010heu.2_Silent_p.C293C|TBC1D5_uc010hev.2_Silent_p.C728C|TBC1D5_uc003cbe.2_Silent_p.C706C	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	706						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CTCTATCAGTGCACCCTGGCG	0.527													A	17202725	G	A	17202725	2	1	165	1	0	0	0	0	0	0	0	1	15620	1311	46	2		2	TBC1D5	3	17202725	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	985618	17202725	180819705	251	89404											
TBC1D5	9779	broad.mit.edu	37	chr3	17255753	17255753	+	Frame_Shift_Del	DEL	A	A	-													cgagaacgtgagatgttgctAaaaaaggaatcttttttagt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:17255752_17255752TA>T	uc010hev.3	-	19	2029	c.1765_1765TA>A	c.(1765-1767)agcfs	p.S589fs	TBC1D5_uc010heu.3_Frame_Shift_Del_p.S154fs|TBC1D5_uc003cbf.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc003cbe.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc010hew.1_Frame_Shift_Del_p.S541fs	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	567						intracellular	Rab GTPase activator activity|protein binding			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						GAGATGTTGCTAAAAAAGGAA	0.393													-	17255753	A	-	17255753	7	5	165	1	0	1	0	1	0	0	0	0	15620	359	13	0	709	0	TBC1D5	3	17255753	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	53028	17255753	180766677	252	89405											
SATB1	6304	broad.mit.edu	37	chr3	18457551	18457551	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atacacatcttgaagcatatCtgctactgtagcatcagggg	9	9	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:18457551C>G	uc003cbh.2	-	4	2198	c.463G>C	c.(463-465)GAT>CAT	p.D155H	SATB1_uc003cbi.2_Missense_Mutation_p.D155H|SATB1_uc003cbj.2_Missense_Mutation_p.D155H	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	155	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TGAAGCATATCTGCTACTGTA	0.418													G	18457551	C	G	18457551	3	3	165	1	0	0	0	0	1	0	0	0	13853	913	32	5	1860	5	SATB1	3	18457551	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1201798	18457551	179564879	253	89406											
CLASP2	23122	broad.mit.edu	37	chr3	33576740	33576740	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cataccgtcaggaaactggtCagcatcatcatcaaacatgg	8	11	5	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:33576740C>T	uc003cfu.2	-	33	4126	c.3772G>A	c.(3772-3774)GAC>AAC	p.D1258N	CLASP2_uc003cfs.2_Missense_Mutation_p.D465N|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.D858N	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	1267										ovary(3)|central_nervous_system(1)	4						GGAAACTGGTCAGCATCATCA	0.408													T	33576740	C	T	33576740	3	4	165	1	0	0	0	0	1	0	0	0	3455	826	29	4	772	4	CLASP2	3	33576740	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	15119189	33576740	164445690	254	89407											
LRRFIP2	9209	broad.mit.edu	37	chr3	37114286	37114287	+	Frame_Shift_Ins	INS	-	-	T													atttcatttcataccccaatINSttttttatctttccaaagaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:37114285_37114286A>AT	uc003cgp.2	-	21	1882_1883	c.1459_1460T>AT	c.(1459-1461)attfs	p.I487fs	LRRFIP2_uc011ayf.1_Frame_Shift_Ins_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	487					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						TCATACCCCAATTTTTTTATCT	0.396													T	37114287	-	T	37114286	7	5	165	1	0	1	1	0	0	0	0	0	9028	1493	52	0	738	0	LRRFIP2	3	37114286	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	3537546	37114286	160908144	255	89408											
LRRFIP2	9209	broad.mit.edu	37	chr3	37114363	37114363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctattttctgctgcatgCgctgcttctcctgcagagga	10	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:37114363C>T	uc003cgp.2	-	22	1805	c.1382G>A	c.(1381-1383)CGC>CAC	p.R461H	LRRFIP2_uc011ayf.1_Missense_Mutation_p.R277H|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	461	Potential.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						CTGCTGCATGCGCTGCTTCTC	0.418													T	37114363	C	T	37114363	3	4	165	1	0	0	0	0	1	0	0	0	9028	768	27	1	815	1	LRRFIP2	3	37114363	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	77	37114363	160908067	256	89409											
ACVR2B	93	broad.mit.edu	37	chr3	38524697	38524697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggctcgcttgtccgcGggctgtgtggaggagcgggt	20	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:38524697G>A	uc003cif.2	+	11	1437	c.1413G>A	c.(1411-1413)GCG>GCA	p.A471A	ACVR2B_uc003cig.2_Silent_p.A262A	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	471	Cytoplasmic (Potential).|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)		GCTTGTCCGCGGGCTGTGTGG	0.607													A	38524697	G	A	38524697	2	1	165	1	0	0	0	0	0	0	0	1	224	1103	39	1		1	ACVR2B	3	38524697	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1410334	38524697	159497733	257	89410											
MYRIP	25924	broad.mit.edu	37	chr3	40085641	40085641	+	Frame_Shift_Del	DEL	T	T	-													gcatgcgctgctgctcgcccTtcaccttcctcgtcaacacc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:40085640_40085640CT>C	uc003cka.3	+	2	345	c.210_210CT>C	c.(208-210)cccfs	p.P70fs	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Frame_Shift_Del_p.P70fs|MYRIP_uc010hhw.3_Frame_Shift_Del_p.P27fs|MYRIP_uc010hhx.1_Frame_Shift_Del_p.P70fs	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	70	RabBD.				intracellular protein transport		actin binding|zinc ion binding	p.S69S(1)		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)		GCTGCTCGCCCTTCACCTTCC	0.557													-	40085641	T	-	40085641	7	5	165	1	0	1	0	1	0	0	0	0	10100	1609	56	0	217	0	MYRIP	3	40085641	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1560944	40085641	157936789	258	89411											
KBTBD5	131377	broad.mit.edu	37	chr3	42728053	42728053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccctgcgcttcggcatgTtcctgcaggatctcatcttc	8	15	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:42728053T>C	uc003clv.1	+	1	1043	c.943T>C	c.(943-945)TTC>CTC	p.F315L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	315										ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTCGGCATGTTCCTGCAGGA	0.572													C	42728053	T	C	42728053	3	2	165	1	0	0	0	0	1	0	0	0	7996	1725	60	3	945	3	KBTBD5	3	42728053	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2642412	42728053	155294377	259	89412											
CCR3	1232	broad.mit.edu	37	chr3	46307386	46307386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatttttgtcatcatggCggtgtttttcattttctgga	9	7	5	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:46307386C>T	uc003cpg.1	+	4	1280	c.737C>T	c.(736-738)GCG>GTG	p.A246V	CCR3_uc003cpi.1_Missense_Mutation_p.A246V|CCR3_uc003cpj.1_Missense_Mutation_p.A246V|CCR3_uc003cpk.1_Missense_Mutation_p.A267V|CCR3_uc010hjb.1_Missense_Mutation_p.A264V|CCR3_uc003cpl.1_Missense_Mutation_p.A279V	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	246	Helical; Name=6; (Potential).				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				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTCATCATGGCGGTGTTTTTC	0.453													T	46307386	C	T	46307386	3	4	165	1	0	0	0	0	1	0	0	0	2942	768	27	1	806	1	CCR3	3	46307386	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3579333	46307386	151715044	260	89413											
LTF	4057	broad.mit.edu	37	chr3	46490404	46490404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgaggagcaggtcaCgctgccttcgctcaagccac	14	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:46490404C>T	uc003cpq.2	-	9	1200	c.1162G>A	c.(1162-1164)GTG>ATG	p.V388M	LTF_uc003fzr.2_Missense_Mutation_p.V344M|LTF_uc010hjh.2_Missense_Mutation_p.V388M|LTF_uc003cpr.2_Missense_Mutation_p.V375M	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	388	Transferrin-like 2.				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.V388E(1)		central_nervous_system(2)|ovary(1)|lung(1)	4				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)	GAGCAGGTCACGCTGCCTTCG	0.682													T	46490404	C	T	46490404	3	4	165	1	0	0	0	0	1	0	0	0	9079	536	19	1	1006	1	LTF	3	46490404	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	183018	46490404	151532026	261	89414											
RTP3	83597	broad.mit.edu	37	chr3	46539601	46539601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtttcaggagttaatgCgggaggtgaagccatggcac	14	6	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:46539601C>T	uc003cps.1	+	1	117	c.49C>T	c.(49-51)CGG>TGG	p.R17W		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	17	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GGAGTTAATGCGGGAGGTGAA	0.587													T	46539601	C	T	46539601	3	4	165	1	0	0	0	0	1	0	0	0	13735	759	27	1	51	1	RTP3	3	46539601	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	49197	46539601	151482829	262	89415											
TREX1	11277	broad.mit.edu	37	chr3	48508192	48508192	+	Frame_Shift_Del	DEL	C	C	-													cacagatgtgccctggagagCccccccacctctcaggggcc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48508191_48508191GC>G	uc003ctj.3	+	1	1559	c.302_302GC>G	c.(301-303)agcfs	p.S101fs	TREX1_uc010hjy.3_Frame_Shift_Del_p.S46fs|TREX1_uc010hjz.3_Frame_Shift_Del_p.S46fs|TREX1_uc003ctk.3_5'UTR|TREX1_uc010hka.3_Frame_Shift_Del_p.S101fs	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	101					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion 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)		GCCCTGGAGAGCCCCCCCACC	0.642													-	48508192	C	-	48508192	7	5	165	1	0	1	0	1	0	0	0	0	16473	738	26	0	305	0	TREX1	3	48508192	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	1968591	48508192	149514238	263	89416											
SHISA5	51246	broad.mit.edu	37	chr3	48510933	48510933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggctgaggataagggGcatgcaccacagtggtggat	17	6	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48510933G>T	uc003ctp.1	-	5	604	c.470C>A	c.(469-471)GCC>GAC	p.A157D	SHISA5_uc003ctn.1_Nonsense_Mutation_p.C25*|SHISA5_uc003ctm.1_Missense_Mutation_p.A54D|SHISA5_uc011bbk.1_Nonsense_Mutation_p.C65*|SHISA5_uc003cto.1_Missense_Mutation_p.A126D|SHISA5_uc003ctq.1_Missense_Mutation_p.A150D|SHISA5_uc003ctr.1_Missense_Mutation_p.A126D|SHISA5_uc003cts.1_Missense_Mutation_p.A126D|SHISA5_uc003ctt.2_Missense_Mutation_p.A54D|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Missense_Mutation_p.A55D	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	157	Cytoplasmic (Potential).				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						AGGATAAGGGGCATGCACCAC	0.612													T	48510933	G	T	48510933	3	4	165	1	0	0	0	0	1	0	0	0	14283	1203	42	5	260	5	SHISA5	3	48510933	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2741	48510933	149511497	264	89417											
COL7A1	1294	broad.mit.edu	37	chr3	48613062	48613062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccacttctgctcacctcCttgcctggggggccctgttc	11	16	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48613062C>A	uc003ctz.2	-	72	5977	c.5976G>T	c.(5974-5976)AAG>AAT	p.K1992N		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1992	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTCACCTCCTTGCCTGGGG	0.647													A	48613062	C	A	48613062	3	1	165	1	0	0	0	0	1	0	0	0	3704	680	24	5	3046	5	COL7A1	3	48613062	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	102129	48613062	149409368	265	89418											
CELSR3	1951	broad.mit.edu	37	chr3	48699181	48699181	+	Frame_Shift_Del	DEL	G	G	-													caggacgggccgggagtcccGggggacgcggcccggggcgc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48699180_48699180CG>C	uc003cuf.1	-	2	1098	c.1098_1098CG>G	c.(1096-1098)ccgfs	p.P366fs	CELSR3_uc003cul.3_Frame_Shift_Del_p.P296fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	296	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		CCGGGAGTCCCGGGGGACGCG	0.716													-	48699181	G	-	48699181	7	5	165	1	0	1	0	1	0	0	0	0	3223	1116	39	0	9191	0	CELSR3	3	48699181	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	86119	48699181	149323249	266	89419											
IP6K2	51447	broad.mit.edu	37	chr3	48725986	48725986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccttgccatcataaAtgaccagcagggagcttgag	11	12	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:48725986A>G	uc003cup.2	-	6	1245	c.1001T>C	c.(1000-1002)ATT>ACT	p.I334T	NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.I334T	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	334					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GCCATCATAAATGACCAGCAG	0.557													G	48725986	A	G	48725986	3	3	165	1	0	0	0	0	1	0	0	0	7789	101	4	3	283	3	IP6K2	3	48725986	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	26805	48725986	149296444	267	89420											
DAG1	1605	broad.mit.edu	37	chr3	49569667	49569667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacgtgggcaaacacgagTatttcatgcatgccacagac	10	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:49569667T>C	uc003cxc.3	+	3	2141	c.1723T>C	c.(1723-1725)TAT>CAT	p.Y575H		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	575	Peptidase S72.				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAAACACGAGTATTTCATGCA	0.602													C	49569667	T	C	49569667	3	2	165	1	0	0	0	0	1	0	0	0	4225	1638	57	3	1729	3	DAG1	3	49569667	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	843681	49569667	148452763	268	89421											
RBM6	10180	broad.mit.edu	37	chr3	50103840	50103840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaagaagacaaactcActgactggaataaactggct	9	7	1	5			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:50103840A>G	uc003cyc.2	+	17	2981	c.2848A>G	c.(2848-2850)ACT>GCT	p.T950A	RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.T428A|RBM6_uc003cye.2_Missense_Mutation_p.T428A|RBM6_uc011bdi.1_Missense_Mutation_p.T292A|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	950					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGACAAACTCACTGACTGGAA	0.507													G	50103840	A	G	50103840	3	3	165	1	0	0	0	0	1	0	0	0	13144	159	6	3	2910	3	RBM6	3	50103840	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	534173	50103840	147918590	269	89422											
VPRBP	9730	broad.mit.edu	37	chr3	51457615	51457615	+	Frame_Shift_Del	DEL	G	G	-													gggcagagctagcggaccctGggggggccgtggctgaggat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:51457614_51457614TG>T	uc003dbe.2	-	13	2836	c.2651_2651CA>A	c.(2650-2652)cagfs	p.Q884fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q883fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q213fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	937					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)		TAGCGGACCCTGGGGGGGCCG	0.592													-	51457615	G	-	51457615	7	5	165	1	0	1	0	1	0	0	0	0	17182	1357	47	0	1758	0	VPRBP	3	51457615	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1353775	51457615	146564815	270	89423											
FAM116A	201627	broad.mit.edu	37	chr3	57614584	57614584	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtctactgtttctacttctGtgtgtttctggatccagaga	10	8	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:57614584G>C	uc003dja.2	-	19	1720	c.1649C>G	c.(1648-1650)ACA>AGA	p.T550R		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	550										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TTCTACTTCTGTGTGTTTCTG	0.338													C	57614584	G	C	57614584	3	2	165	1	0	0	0	0	1	0	0	0	5407	1377	48	5	185	5	FAM116A	3	57614584	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	6156969	57614584	140407846	271	89424											
SLMAP	7871	broad.mit.edu	37	chr3	57743471	57743471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagcccatcaaaatcggCcgctcagtggcccgctgtcg	12	15	2	0	rs144914455	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:57743471C>T	uc003dje.1	+	1	298	c.93C>T	c.(91-93)GGC>GGT	p.G31G	SLMAP_uc003djc.1_Silent_p.G31G|SLMAP_uc003djd.1_Silent_p.G31G|SLMAP_uc003djf.1_Silent_p.G31G	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	31	Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).|FHA.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				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)		TCAAAATCGGCCGCTCAGTGG	0.557													T	57743471	C	T	57743471	2	4	165	1	0	0	0	0	0	0	0	1	14749	726	26	2		2	SLMAP	3	57743471	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	128887	57743471	140278959	272	89425											
SLMAP	7871	broad.mit.edu	37	chr3	57913085	57913085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacagccatcgtgctgtaCgtgccaggtctggccagagc	13	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:57913085C>T	uc003dje.1	+	22	2662	c.2457C>T	c.(2455-2457)TAC>TAT	p.Y819Y	SLMAP_uc003djd.1_Silent_p.Y802Y|SLMAP_uc003djf.1_Silent_p.Y781Y|SLMAP_uc003djg.1_3'UTR|SLMAP_uc011bez.1_Silent_p.Y287Y|SLMAP_uc011bfa.1_Silent_p.Y353Y|SLMAP_uc003dji.1_3'UTR|SLMAP_uc011bfb.1_Silent_p.Y353Y|SLMAP_uc011bfc.1_3'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	819	Helical; Anchor for type IV membrane protein; (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				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)		TCGTGCTGTACGTGCCAGGTC	0.542													T	57913085	C	T	57913085	2	4	165	1	0	0	0	0	0	0	0	1	14749	547	19	1		1	SLMAP	3	57913085	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	169614	57913085	140109345	273	89426											
MAGI1	9223	broad.mit.edu	37	chr3	65342204	65342204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccttttgtccagggacCgctctctcctgcgctcgggg	12	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:65342204C>A	uc003dmn.2	-	23	4764	c.4238G>T	c.(4237-4239)CGG>CTG	p.R1413L	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1442					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		GTCCAGGGACCGCTCTCTCCT	0.667													A	65342204	C	A	65342204	3	1	165	1	0	0	0	0	1	0	0	0	9190	652	23	5	154	5	MAGI1	3	65342204	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7429119	65342204	132680226	274	89427											
MAGI1	9223	broad.mit.edu	37	chr3	65342235	65342235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcgggggagcgtgcgcGcctccggtcggtggacttgg	20	12	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:65342235G>A	uc003dmn.2	-	23	4733	c.4207C>T	c.(4207-4209)CGC>TGC	p.R1403C	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1432					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		GAGCGTGCGCGCCTCCGGTCG	0.667													A	65342235	G	A	65342235	3	1	165	1	0	0	0	0	1	0	0	0	9190	1087	38	1	185	1	MAGI1	3	65342235	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	31	65342235	132680195	275	89428											
MAGI1	9223	broad.mit.edu	37	chr3	65456114	65456114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctactattcacaggtggtAatgctgtttcttggagagtg	12	6	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:65456114A>G	uc003dmn.2	-	5	1329	c.803T>C	c.(802-804)TTA>TCA	p.L268S	MAGI1_uc003dmm.2_Missense_Mutation_p.L268S|MAGI1_uc003dmo.2_Missense_Mutation_p.L268S|MAGI1_uc003dmp.2_Missense_Mutation_p.L268S|MAGI1_uc010hny.2_Missense_Mutation_p.L153S|MAGI1_uc003dmr.2_Missense_Mutation_p.L269S	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	268	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		CACAGGTGGTAATGCTGTTTC	0.448													G	65456114	A	G	65456114	3	3	165	1	0	0	0	0	1	0	0	0	9190	372	13	3	3895	3	MAGI1	3	65456114	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	113879	65456114	132566316	276	89429											
LRIG1	26018	broad.mit.edu	37	chr3	66434513	66434513	+	Frame_Shift_Del	DEL	A	A	-													ctattttcacatcagtgatgAaaaacacgtcgtcatccggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:66434512_66434512GA>G	uc003dmx.3	-	13	1988	c.1974_1974TC>C	c.(1972-1974)ttcfs	p.F658fs	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Frame_Shift_Del_p.F278fs|LRIG1_uc003dmw.3_Frame_Shift_Del_p.F324fs|LRIG1_uc010hnz.3_Frame_Shift_Del_p.F374fs|LRIG1_uc010hoa.3_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	658	Ig-like C2-type 2.					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)		CATCAGTGATGAAAAACACGT	0.527													-	66434513	A	-	66434513	7	5	165	1	0	1	0	1	0	0	0	0	8944	246	9	0	1332	0	LRIG1	3	66434513	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	978399	66434513	131587917	277	89430											
UBA3	9039	broad.mit.edu	37	chr3	69105035	69105035	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagatttggccttgttcGttcttcaatagaggttaccg	12	7	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:69105035G>A	uc003dno.2	-	17	1290	c.1270C>T	c.(1270-1272)CGA>TGA	p.R424*	UBA3_uc003dnq.2_Nonsense_Mutation_p.R410*|UBA3_uc011bfy.1_Nonsense_Mutation_p.R247*|UBA3_uc011bfz.1_Nonsense_Mutation_p.R247*	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	424	Interaction with UBE2M core domain.			R->A: No effect on NEDD8 transfer to UBE2M.	protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		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)		GGCCTTGTTCGTTCTTCAATA	0.264													A	69105035	G	A	69105035	4	1	165	1	0	0	0	0	0	1	0	0	16826	1153	40	1	129	1	UBA3	3	69105035	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2670522	69105035	128917395	278	89431											
FOXP1	27086	broad.mit.edu	37	chr3	71090486	71090486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggttcctacctttcccTtttgggagtgtggactgaga	13	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:71090486T>C	uc003dol.2	-	7	1185	c.862A>G	c.(862-864)AGG>GGG	p.R288G	FOXP1_uc003dom.2_Missense_Mutation_p.R212G|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.R288G|FOXP1_uc003dop.2_Missense_Mutation_p.R288G|FOXP1_uc003doq.1_Missense_Mutation_p.R287G|FOXP1_uc003doi.2_Missense_Mutation_p.R188G|FOXP1_uc003doj.2_Missense_Mutation_p.R188G|FOXP1_uc003dok.2_Missense_Mutation_p.R101G|FOXP1_uc003dor.1_Missense_Mutation_p.R66G	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	288					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TACCTTTCCCTTTTGGGAGTG	0.517			T	PAX5	ALL								C	71090486	T	C	71090486	3	2	165	1	0	0	0	0	1	0	0	0	6026	1608	56	3	1215	3	FOXP1	3	71090486	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1985451	71090486	126931944	279	89432											
ARL13B	200894	broad.mit.edu	37	chr3	93755579	93755579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagagctgaacgagtgCgaaaattacgagaagaaagg	13	4	0	5			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:93755579C>T	uc003drc.2	+	5	956	c.670C>T	c.(670-672)CGA>TGA	p.R224*	ARL13B_uc010hop.2_Nonsense_Mutation_p.R75*|ARL13B_uc003drd.2_Nonsense_Mutation_p.R117*|ARL13B_uc003dre.2_Nonsense_Mutation_p.R209*|ARL13B_uc003drf.2_Nonsense_Mutation_p.R224*|ARL13B_uc003drg.2_Nonsense_Mutation_p.R121*	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	224	Potential.						GTP binding				0						TGAACGAGTGCGAAAATTACG	0.363													T	93755579	C	T	93755579	4	4	165	1	0	0	0	0	0	1	0	0	929	760	27	1	688	1	ARL13B	3	93755579	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	22665093	93755579	104266851	280	89433											
OR5H14	403273	broad.mit.edu	37	chr3	97868368	97868368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaatcttggtctgattGctgtcatctggaaagaccct	12	8	4	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:97868368G>A	uc003dsg.1	+	1	139	c.139G>A	c.(139-141)GCT>ACT	p.A47T		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGGTCTGATTGCTGTCATCTG	0.408													A	97868368	G	A	97868368	3	1	165	1	0	0	0	0	1	0	0	0	11160	1319	46	2	141	2	OR5H14	3	97868368	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4112789	97868368	100154062	281	89434											
DCBLD2	131566	broad.mit.edu	37	chr3	98538128	98538129	+	Frame_Shift_Ins	INS	-	-	T													cagcccaaggcggtccaggtINStttttcagcctggctttttt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:98538127_98538128G>GT	uc003dte.3	-	7	1368_1369	c.1005_1006C>AC	c.(1003-1008)aaacctfs	p.K335fs	DCBLD2_uc003dtd.3_Frame_Shift_Ins_p.K335fs	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	335	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						GGCGGTCCAGGTTTTTTCAGCC	0.426													T	98538129	-	T	98538128	7	5	165	1	0	1	1	0	0	0	0	0	4281	1722	60	0	1358	0	DCBLD2	3	98538128	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	669760	98538128	99484302	282	89435											
CBLB	868	broad.mit.edu	37	chr3	105377982	105377982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgacattttccaatgcCgcctcaggcccatggggttt	10	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:105377982C>T	uc003dwc.2	-	19	3103	c.2781G>A	c.(2779-2781)GCG>GCA	p.A927A	CBLB_uc003dwa.2_Silent_p.A142A|CBLB_uc011bhi.1_Silent_p.A905A	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	927	Interaction with SH3KBP1.				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			lung(4)|ovary(3)|breast(1)|skin(1)	9						TTTCCAATGCCGCCTCAGGCC	0.507			Mis S		AML								T	105377982	C	T	105377982	2	4	165	1	0	0	0	0	0	0	0	1	2701	639	23	1		1	CBLB	3	105377982	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6839854	105377982	92644448	283	89436											
CCDC80	151887	broad.mit.edu	37	chr3	112357154	112357154	+	Frame_Shift_Del	DEL	T	T	-													tgctttttagactcctttgcTtttttaaggggaacattccc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:112357153_112357153CT>C	uc003dzf.3	-	1	1818	c.1600_1600AG>G	c.(1600-1602)gcafs	p.A534fs	CCDC80_uc011bhv.2_Frame_Shift_Del_p.A534fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.A534fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.A534fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	534	Lys-rich.									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						GACTCCTTTGCTTTTTTAAGG	0.423													-	112357154	T	-	112357154	7	5	165	1	0	1	0	1	0	0	0	0	2854	1606	56	0	1281	0	CCDC80	3	112357154	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	6979172	112357154	85665276	284	89437											
ZBTB20	26137	broad.mit.edu	37	chr3	114070106	114070106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcgcggggcaggccgagCgcagtctcgtggtggctgac	19	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:114070106C>T	uc003ebi.2	-	4	999	c.819G>A	c.(817-819)GCG>GCA	p.A273A	ZBTB20_uc003ebj.2_Silent_p.A200A|ZBTB20_uc010hqp.2_Silent_p.A200A|ZBTB20_uc003ebk.2_Silent_p.A200A|ZBTB20_uc003ebl.2_Silent_p.A200A|ZBTB20_uc003ebm.2_Silent_p.A200A|ZBTB20_uc003ebn.2_Silent_p.A200A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGGCCGAGCGCAGTCTCGT	0.642													T	114070106	C	T	114070106	2	4	165	1	0	0	0	0	0	0	0	1	17526	755	27	1		1	ZBTB20	3	114070106	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1712952	114070106	83952324	285	89438											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121138	119121138	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgccgtgcagaacacccccGaaggagctgcagtctctttc	10	15	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:119121138G>A	uc003ecj.3	+	10	2071	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	513					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GAACACCCCCGAAGGAGCTGC	0.582													A	119121138	G	A	119121138	2	1	165	1	0	0	0	0	0	0	0	1	880	1045	37	1		1	ARHGAP31	3	119121138	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5051032	119121138	78901292	286	89439											
GSK3B	2932	broad.mit.edu	37	chr3	119634950	119634950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaacaagaggttctgcggTttaatatcccgatggcagat	10	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:119634950T>C	uc003edo.2	-	5	1532	c.549A>G	c.(547-549)AAA>AAG	p.K183K	GSK3B_uc003edn.2_Silent_p.K183K	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	183	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			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GGTTCTGCGGTTTAATATCCC	0.413													C	119634950	T	C	119634950	2	2	165	1	0	0	0	0	0	0	0	1	6824	1722	60	3		3	GSK3B	3	119634950	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	513812	119634950	78387480	287	89440											
EAF2	55840	broad.mit.edu	37	chr3	121575886	121575886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagcagtaaaattcagtatCgtaaagaacaacagcaacaa	7	7	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:121575886C>T	uc003een.2	+	4	466	c.367C>T	c.(367-369)CGT>TGT	p.R123C	EAF2_uc003eeo.2_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	123					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		AATTCAGTATCGTAAAGAACA	0.348													T	121575886	C	T	121575886	3	4	165	1	0	0	0	0	1	0	0	0	4876	884	31	1	381	1	EAF2	3	121575886	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1940936	121575886	76446544	288	89441											
SLC15A2	6565	broad.mit.edu	37	chr3	121648151	121648151	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactttcctctgttgtaggtAaaggatacagaaagcagaac	9	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:121648151A>T	uc003eep.2	+	17	1662	c.1509A>T	c.(1507-1509)GTA>GTT	p.V503V	SLC15A2_uc011bjn.1_Silent_p.V472V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	503					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTTGTAGGTAAAGGATACAG	0.388													T	121648151	A	T	121648151	2	4	165	1	0	0	0	0	0	0	0	1	14399	349	13	5		5	SLC15A2	3	121648151	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	72265	121648151	76374279	289	89442											
ADCY5	111	broad.mit.edu	37	chr3	123166294	123166294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcctgggcgttggtgcGcagggcgatggccaggtgga	20	9	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:123166294G>A	uc003egh.1	-	1	1099	c.1099C>T	c.(1099-1101)CGC>TGC	p.R367C		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	367					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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGGTGCGCAGGGCGATG	0.677													A	123166294	G	A	123166294	3	1	165	1	0	0	0	0	1	0	0	0	297	1087	38	1	2770	1	ADCY5	3	123166294	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1518143	123166294	74856136	290	89443											
PLXNA1	5361	broad.mit.edu	37	chr3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-													gtgagatccggtgcctgacaCcccccgggcagagccctggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:126735390_126735390AC>A	uc003ejg.3	+	14	3045	c.3045_3045AC>A	c.(3043-3045)acafs	p.T1015fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1015	IPT/TIG 2.				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)		GGTGCCTGACACCCCCCGGGC	0.622													-	126735391	C	-	126735391	7	5	165	1	0	1	0	1	0	0	0	0	12119	507	18	0	3104	0	PLXNA1	3	126735391	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	3569097	126735391	71287039	291	89444											
RUVBL1	8607	broad.mit.edu	37	chr3	127816251	127816251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtccagcatgtggaccTcatcaacaaacagcacaccc	6	15	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:127816251T>C	uc003ekh.2	-	8	1012	c.908A>G	c.(907-909)GAG>GGG	p.E303G	RUVBL1_uc003eke.2_Missense_Mutation_p.E44G|RUVBL1_uc003ekf.2_Missense_Mutation_p.E243G|RUVBL1_uc010hss.2_Missense_Mutation_p.E303G	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	303					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CATGTGGACCTCATCAACAAA	0.527													C	127816251	T	C	127816251	3	2	165	1	0	0	0	0	1	0	0	0	13752	1551	54	3	478	3	RUVBL1	3	127816251	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1080860	127816251	70206179	292	89445											
H1FX	8971	broad.mit.edu	37	chr3	129034633	129034635	+	In_Frame_Del	DEL	TTC	TTC	-													gctggttcttcttcttgctaTtcttcctcttcttagatggg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:129034633_129034635delTTC	uc003elx.2	-	1	486_488	c.111_113delGAA	c.(109-114)AAGAAT>AAT	p.K37del	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	37					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTTCTTGCTATTCTTCCTCTTCT	0.621													-	129034635	TTC	-	129034633	7	5	165	1	0	1	0	1	0	0	0	0	6923	1493	52	0	532	0	H1FX	3	129034633	In_Frame_Del	DEL	TTC	TCGA-CG-4305-01A-01D-1158-08	1218382	129034633	68987797	293	89446											
IFT122	55764	broad.mit.edu	37	chr3	129211008	129211008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagagtacaagacctcCgatatttagagctcatcagc	7	11	4	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:129211008C>T	uc003emm.2	+	17	2223	c.2017C>T	c.(2017-2019)CGA>TGA	p.R673*	IFT122_uc003eml.2_Nonsense_Mutation_p.R724*|IFT122_uc003emn.2_Nonsense_Mutation_p.R614*|IFT122_uc003emo.2_Nonsense_Mutation_p.R562*|IFT122_uc003emp.2_Nonsense_Mutation_p.R523*|IFT122_uc010htc.2_Nonsense_Mutation_p.R665*|IFT122_uc011bky.1_Nonsense_Mutation_p.R464*|IFT122_uc003emq.2_Nonsense_Mutation_p.R513*|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Nonsense_Mutation_p.R53*|IFT122_uc003ems.2_Intron|IFT122_uc011bkx.1_Nonsense_Mutation_p.R513*|IFT122_uc010htd.1_Nonsense_Mutation_p.R152*	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	673					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						ACAAGACCTCCGATATTTAGA	0.443													T	129211008	C	T	129211008	4	4	165	1	0	0	0	0	0	1	0	0	7555	644	23	1	2240	1	IFT122	3	129211008	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	176375	129211008	68811422	294	89447											
ASTE1	28990	broad.mit.edu	37	chr3	130743090	130743090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgttttccacctgtgtgGgaagaatggtccgtcttagg	13	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:130743090G>A	uc003env.1	-	3	1503	c.1061C>T	c.(1060-1062)CCC>CTC	p.P354L	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.P354L|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	354				ILP -> FLH (in Ref. 4; AAF14876).	DNA repair		nuclease activity				0						CACCTGTGTGGGAAGAATGGT	0.448													A	130743090	G	A	130743090	3	1	165	1	0	0	0	0	1	0	0	0	1062	1232	43	4	994	4	ASTE1	3	130743090	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1532082	130743090	67279340	295	89448											
TOPBP1	11073	broad.mit.edu	37	chr3	133320111	133320111	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattagtgtactctaggtcGtttgattttatttttttctg	8	5	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:133320111G>A	uc003eps.2	-	28	4684	c.4552C>T	c.(4552-4554)CGA>TGA	p.R1518*		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1518	Nuclear localization signal (Potential).				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ACTCTAGGTCGTTTGATTTTA	0.333								Other_conserved_DNA_damage_response_genes					A	133320111	G	A	133320111	4	1	165	1	0	0	0	0	0	1	0	0	16366	1153	40	1	20	1	TOPBP1	3	133320111	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2577021	133320111	64702319	296	89449											
EPHB1	2047	broad.mit.edu	37	chr3	134851684	134851684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatctgcaaaaagtgcCgggcagaccgccggagctgc	12	13	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:134851684C>T	uc003eqt.2	+	5	1310	c.1090C>T	c.(1090-1092)CGG>TGG	p.R364W	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	364	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R364L(1)		lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CAAAAAGTGCCGGGCAGACCG	0.602													T	134851684	C	T	134851684	3	4	165	1	0	0	0	0	1	0	0	0	5174	643	23	1	1108	1	EPHB1	3	134851684	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1531573	134851684	63170746	297	89450											
FOXL2	668	broad.mit.edu	37	chr3	138664511	138664511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaatgcatcatggcgagctCgggctgccgggcacaagcga	15	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:138664511C>T	uc003esw.2	-	1	1472	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	352					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			ovary(266)|large_intestine(1)|skin(1)	268						ATGGCGAGCTCGGGCTGCCGG	0.478			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III						T	138664511	C	T	138664511	3	4	165	1	0	0	0	0	1	0	0	0	6017	893	31	1	80	1	FOXL2	3	138664511	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3812827	138664511	59357919	298	89451											
RASA2	5922	broad.mit.edu	37	chr3	141327450	141327450	+	Frame_Shift_Del	DEL	T	T	-													tgcaatcaaaacaggctcagTttttatcatccctctgtgta							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:141327449_141327449GT>G	uc010huq.1	+	21	2147	c.2147_2147GT>G	c.(2146-2148)agtfs	p.S716fs	RASA2_uc003etz.1_Frame_Shift_Del_p.S712fs|RASA2_uc003eua.1_Frame_Shift_Del_p.S713fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	712					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	Ras GTPase activator activity|metal ion binding			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						AACAGGCTCAGTTTTTATCAT	0.463													-	141327450	T	-	141327450	7	5	165	1	0	1	0	1	0	0	0	0	13061	1722	60	0	2218	0	RASA2	3	141327450	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	2662939	141327450	56694980	299	89452											
XRN1	54464	broad.mit.edu	37	chr3	142122607	142122608	+	Frame_Shift_Ins	INS	-	-	A													ttgaacaccacttttcttcaINSaaaaaaactttaaaagaatt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:142122606_142122607C>CA	uc003eus.3	-	17	2079_2080	c.2012_2013G>TG	c.(2011-2013)ttgfs	p.L671fs	XRN1_uc010huu.3_Frame_Shift_Ins_p.L137fs|XRN1_uc003eut.3_Frame_Shift_Ins_p.L671fs|XRN1_uc003euu.3_Frame_Shift_Ins_p.L671fs|XRN1_uc003euv.1_Frame_Shift_Ins_p.L532fs	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	671					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein 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						CACTTTTCTTCAAAAAAAACTT	0.292													A	142122608	-	A	142122607	7	5	165	1	0	1	1	0	0	0	0	0	17456	131	5	0	3208	0	XRN1	3	142122607	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	795157	142122607	55899823	300	89453											
ATR	545	broad.mit.edu	37	chr3	142278199	142278199	+	Frame_Shift_Del	DEL	T	T	-													cttctacagctcttaagcacTtttgtgtaaaaatccaatga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:142278198_142278198CT>C	uc003eux.4	-	6	1749	c.1627_1627AG>G	c.(1627-1629)gtgfs	p.V543fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	543					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|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						CTCTTAAGCACTTTTGTGTAA	0.363								Other conserved DNA damage response genes					-	142278199	T	-	142278199	7	5	165	1	0	1	0	1	0	0	0	0	1204	1606	56	0	6472	0	ATR	3	142278199	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	155592	142278199	55744231	301	89454											
PAQR9	344838	broad.mit.edu	37	chr3	142681359	142681359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggtagaagtgcacgaAgagtgtggggttctccccac	16	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:142681359A>C	uc003evg.2	-	1	820	c.820T>G	c.(820-822)TTC>GTC	p.F274V	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	274	Extracellular (Potential).					integral to membrane	receptor activity				0						AAGTGCACGAAGAGTGTGGGG	0.607													C	142681359	A	C	142681359	3	2	165	1	0	0	0	0	1	0	0	0	11442	72	3	5	317	5	PAQR9	3	142681359	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	403160	142681359	55341071	302	89455											
ZIC4	84107	broad.mit.edu	37	chr3	147114002	147114002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccaggaccgtggggcgCagcgaggttcaccgtcaggt	17	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:147114002C>T	uc003ewd.1	-	3	598	c.325G>A	c.(325-327)GCG>ACG	p.A109T	ZIC4_uc003ewc.1_Missense_Mutation_p.A39T|ZIC4_uc011bno.1_Missense_Mutation_p.A159T	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	109						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CCGTGGGGCGCAGCGAGGTTC	0.706													T	147114002	C	T	147114002	3	4	165	1	0	0	0	0	1	0	0	0	17678	710	25	2	691	2	ZIC4	3	147114002	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4432643	147114002	50908428	303	89456											
EIF2A	83939	broad.mit.edu	37	chr3	150289982	150289982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggatgtgaaaaactacaAacttatttctaaaccggtgg	10	6	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:150289982A>G	uc003eya.2	+	10	1065	c.1049A>G	c.(1048-1050)AAA>AGA	p.K350R	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.K223R|EIF2A_uc003eyc.2_Missense_Mutation_p.K223R|EIF2A_uc011bnv.1_Missense_Mutation_p.K325R|EIF2A_uc011bnw.1_Missense_Mutation_p.K289R|EIF2A_uc003eyd.2_Missense_Mutation_p.K125R|uc003eye.1_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	350					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAAAACTACAAACTTATTTCT	0.423													G	150289982	A	G	150289982	3	3	165	1	0	0	0	0	1	0	0	0	4995	14	1	3	1087	3	EIF2A	3	150289982	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	3175980	150289982	47732448	304	89457											
P2RY12	64805	broad.mit.edu	37	chr3	151056290	151056290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgatagttatcagtcccAggaatgaaatactgatatac	8	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:151056290A>G	uc003eyw.1	-	2	560	c.344T>C	c.(343-345)CTG>CCG	p.L115P	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Missense_Mutation_p.L115P	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	115	Helical; Name=3; (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TATCAGTCCCAGGAATGAAAT	0.418													G	151056290	A	G	151056290	3	3	165	1	0	0	0	0	1	0	0	0	11349	188	7	3	688	3	P2RY12	3	151056290	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	766308	151056290	46966140	305	89458											
DHX36	170506	broad.mit.edu	37	chr3	154017707	154017707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagaaagaccagtatcGcaccatcctatatgaagggg	11	10	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:154017707G>A	uc003ezy.3	-	12	1550	c.1469C>T	c.(1468-1470)GCG>GTG	p.A490V	DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	490	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACCAGTATCGCACCATCCTA	0.358													A	154017707	G	A	154017707	3	1	165	1	0	0	0	0	1	0	0	0	4509	1087	38	1	1613	1	DHX36	3	154017707	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2961417	154017707	44004723	306	89459											
RSRC1	51319	broad.mit.edu	37	chr3	157840089	157840089	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacattcttatgatagaaggTgatttttgtaatttttattt	6	3	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:157840089T>G	uc003fbt.2	+	2	305	c.194_splice	c.e2+2	p.R65_splice	RSRC1_uc011bou.1_Splice_Site_p.R65_splice|RSRC1_uc003fbu.1_Splice_Site_p.R65_splice|RSRC1_uc003fbv.2_Splice_Site_p.R65_splice	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGATAGAAGGTGATTTTTGTA	0.289													G	157840089	T	G	157840089	5	3	165	1	0	0	0	0	0	0	1	0	13714	1710	59	5	198	5	RSRC1	3	157840089	Splice_Site	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3822382	157840089	40182341	307	89460											
WDR49	151790	broad.mit.edu	37	chr3	167217963	167217963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaagtgacggggcctcCagaatttggggacgctcttc	12	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:167217963C>T	uc003fev.1	-	14	2259	c.1953G>A	c.(1951-1953)CTG>CTA	p.L651L	WDR49_uc003feu.1_Silent_p.L476L|WDR49_uc011bpd.1_Silent_p.L616L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	651										large_intestine(1)|ovary(1)|skin(1)	3						ACGGGGCCTCCAGAATTTGGG	0.428													T	167217963	C	T	167217963	2	4	165	1	0	0	0	0	0	0	0	1	17299	581	21	4		4	WDR49	3	167217963	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	9377874	167217963	30804467	308	89461											
PHC3	80012	broad.mit.edu	37	chr3	169890471	169890471	+	Frame_Shift_Del	DEL	G	G	-													aggtactgagcagctgagctGgggggccgatgcaatgcctg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:169890470_169890470TG>T	uc003fgl.2	-	2	245	c.211_211CA>A	c.(211-213)agcfs	p.S71fs	PHC3_uc010hws.1_Frame_Shift_Del_p.S59fs|PHC3_uc011bpq.1_Frame_Shift_Del_p.S71fs|PHC3_uc011bpr.1_Frame_Shift_Del_p.S71fs|PHC3_uc003fgm.2_Frame_Shift_Del_p.S71fs|PHC3_uc003fgo.1_Frame_Shift_Del_p.S55fs|PHC3_uc003fgp.3_Frame_Shift_Del_p.S67fs|PHC3_uc003fgq.3_Frame_Shift_Del_p.S71fs	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	59					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAGCTGAGCTGGGGGGCCGA	0.443													-	169890471	G	-	169890471	7	5	165	1	0	1	0	1	0	0	0	0	11818	1335	47	0	2829	0	PHC3	3	169890471	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	2672508	169890471	28131959	309	89462											
PRKCI	5584	broad.mit.edu	37	chr3	169998141	169998141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgattaaaaaaaacagatCgtatttatgcaatgaaagtt	6	4	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:169998141C>T	uc003fgs.2	+	9	1070	c.832C>T	c.(832-834)CGT>TGT	p.R278C		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	278	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAACAGATCGTATTTATGC	0.348													T	169998141	C	T	169998141	3	4	165	1	0	0	0	0	1	0	0	0	12514	884	31	1	866	1	PRKCI	3	169998141	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	107670	169998141	28024289	310	89463											
SKIL	6498	broad.mit.edu	37	chr3	170102467	170102468	+	Frame_Shift_Ins	INS	-	-	A													cacagtagtggtaaacttcaINSaaaaacagtgtcttatccag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:170102466_170102467C>CA	uc003fgu.3	+	3	2054_2055	c.1342_1343C>CA	c.(1342-1344)caafs	p.Q448fs	SKIL_uc011bps.2_Frame_Shift_Ins_p.Q428fs|SKIL_uc003fgv.3_Intron|SKIL_uc003fgw.3_Frame_Shift_Ins_p.Q448fs	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	448					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	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific 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)			TGGTAAACTTCAAAAAACAGTG	0.391													A	170102468	-	A	170102467	7	5	165	1	0	1	1	0	0	0	0	0	14358	130	5	0	1353	0	SKIL	3	170102467	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	104326	170102467	27919963	311	89464											
SLC7A14	57709	broad.mit.edu	37	chr3	170244713	170244713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggtccagcgaggtgaAgaagccactcatcttgagcg	15	11	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:170244713A>C	uc003fgz.2	-	2	329	c.13T>G	c.(13-15)TTC>GTC	p.F5V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	5						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			AGCGAGGTGAAGAAGCCACTC	0.567													C	170244713	A	C	170244713	3	2	165	1	0	0	0	0	1	0	0	0	14696	72	3	5	2330	5	SLC7A14	3	170244713	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	142246	170244713	27777717	312	89465											
KCNMB2	10242	broad.mit.edu	37	chr3	178546005	178546005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcaccttgctgaatgcGtccatcacggaaacatttaa	7	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:178546005G>A	uc003fjd.2	+	4	610	c.267G>A	c.(265-267)GCG>GCA	p.A89A	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.A89A|KCNMB2_uc003fjf.2_Silent_p.A89A|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	89	Extracellular (Potential).				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			ovary(1)	1	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)			TGCTGAATGCGTCCATCACGG	0.488													A	178546005	G	A	178546005	2	1	165	1	0	0	0	0	0	0	0	1	8075	1132	40	1		1	KCNMB2	3	178546005	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	8301292	178546005	19476425	313	89466											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	165	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	390086	178936091	19086339	314	89467											
MFN1	55669	broad.mit.edu	37	chr3	179069813	179069813	+	Frame_Shift_Del	DEL	T	T	-													ggagacacatgaaggtggcaTtttttggcaggtaattattt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:179069812_179069812AT>A	uc003fjt.3	+	1	328	c.321_321AT>A	c.(319-321)gcafs	p.A107fs	MFN1_uc003fjs.3_Frame_Shift_Del_p.A79fs|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.G106G(1)		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)			TGAAGGTGGCATTTTTTGGCA	0.383													-	179069813	T	-	179069813	7	5	165	1	0	1	0	1	0	0	0	0	9523	1493	52	0	244	0	MFN1	3	179069813	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	133722	179069813	18952617	315	89468											
USP13	8975	broad.mit.edu	37	chr3	179474842	179474842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcccttaatttccagatCgcctgatgaaccaattgata	5	12	1	4	rs149947980		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:179474842C>T	uc003fkh.2	+	16	2005	c.1924C>T	c.(1924-1926)CGC>TGC	p.R642C	USP13_uc003fkf.2_3'UTR	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	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			ovary(1)	1	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)			ATTTCCAGATCGCCTGATGAA	0.373													T	179474842	C	T	179474842	3	4	165	1	0	0	0	0	1	0	0	0	17041	884	31	1	1986	1	USP13	3	179474842	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	405029	179474842	18547588	316	89469											
ABCF3	55324	broad.mit.edu	37	chr3	183911390	183911390	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtgccgggagttgtgGgtatgcgaaggaggcggcgt	21	6	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:183911390G>A	uc003fmz.2	+	21	2167	c.2034G>A	c.(2032-2034)TGG>TGA	p.W678*	ABCF3_uc003fna.2_Nonsense_Mutation_p.W672*|ABCF3_uc003fnb.2_Nonsense_Mutation_p.W359*	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	678	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGAGTTGTGGGTATGCGAAG	0.622													A	183911390	G	A	183911390	4	1	165	1	0	0	0	0	0	1	0	0	67	1241	43	4	2116	4	ABCF3	3	183911390	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4436548	183911390	14111040	317	89470											
VPS8	23355	broad.mit.edu	37	chr3	184633161	184633161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtttttgaatttctaattCgcctgcattcagcagaggct	9	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:184633161C>T	uc003fpb.1	+	27	2446	c.2275C>T	c.(2275-2277)CGC>TGC	p.R759C	VPS8_uc010hyd.1_Missense_Mutation_p.R669C|VPS8_uc010hye.1_Missense_Mutation_p.R188C	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	761							zinc ion binding			ovary(1)	1	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)			ATTTCTAATTCGCCTGCATTC	0.363													T	184633161	C	T	184633161	3	4	165	1	0	0	0	0	1	0	0	0	17215	884	31	1	2383	1	VPS8	3	184633161	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	721771	184633161	13389269	318	89471											
FETUB	26998	broad.mit.edu	37	chr3	186360309	186360309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaacaacccaagtagagTtctctatttagctgcttata	6	8	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:186360309T>C	uc010hyq.2	+	4	647	c.386T>C	c.(385-387)GTT>GCT	p.V129A	FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.V129A|FETUB_uc003fqo.2_Missense_Mutation_p.V24A|FETUB_uc010hyr.2_Missense_Mutation_p.V92A|FETUB_uc010hys.2_Intron|FETUB_uc003fqp.3_Intron	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	129	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCAAGTAGAGTTCTCTATTTA	0.343													C	186360309	T	C	186360309	3	2	165	1	0	0	0	0	1	0	0	0	5821	1725	60	3	396	3	FETUB	3	186360309	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1727148	186360309	11662121	319	89472											
TP63	8626	broad.mit.edu	37	chr3	189526243	189526243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccatcccctccaacacCgactacccaggcccgcacag	6	23	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:189526243C>T	uc003fry.2	+	4	596	c.507C>T	c.(505-507)ACC>ACT	p.T169T	TP63_uc003frx.2_Silent_p.T169T|TP63_uc003frz.2_Silent_p.T169T|TP63_uc010hzc.1_Silent_p.T169T|TP63_uc003fsa.2_Silent_p.T75T|TP63_uc003fsb.2_Silent_p.T75T|TP63_uc003fsc.2_Silent_p.T75T|TP63_uc003fsd.2_Silent_p.T75T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.T50T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	169					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			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTCCAACACCGACTACCCAG	0.652									Hay-Wells_syndrome	HNSCC(45;0.13)			T	189526243	C	T	189526243	2	4	165	1	0	0	0	0	0	0	0	1	16389	639	23	1		1	TP63	3	189526243	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3165934	189526243	8496187	320	89473											
ACAP2	23527	broad.mit.edu	37	chr3	195022369	195022369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaaatgaaccccaaGgctcctaagtggaaaaaaga	8	7	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195022369G>T	uc003fun.3	-	15	1571	c.1330C>A	c.(1330-1332)CTT>ATT	p.L444I		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	444	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TGAACCCCAAGGCTCCTAAGT	0.348													T	195022369	G	T	195022369	3	4	165	1	0	0	0	0	1	0	0	0	119	1000	35	5	1042	5	ACAP2	3	195022369	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5496126	195022369	3000061	321	89474											
PPP1R2	5504	broad.mit.edu	37	chr3	195245831	195245831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccttgatttgattcttcCgtattcatgctttctccatc	4	11	3	2	rs144914044	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195245831C>T	uc003fup.2	-	5	931	c.555G>A	c.(553-555)ACG>ACA	p.T185T		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	185					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	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)		TTGATTCTTCCGTATTCATGC	0.338													T	195245831	C	T	195245831	2	4	165	1	0	0	0	0	0	0	0	1	12370	639	23	1		1	PPP1R2	3	195245831	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	223462	195245831	2776599	322	89475											
MUC4	4585	broad.mit.edu	37	chr3	195498524	195498524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctttgaaaggctcaccTgataaaatgtggtcccccga	10	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195498524T>C	uc011bto.1	-	6	13317	c.12857A>G	c.(12856-12858)CAG>CGG	p.Q4286R	MUC4_uc003fuz.2_Missense_Mutation_p.R94G|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.Q155R|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.Q155R|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.Q178R|MUC4_uc003fvp.2_Missense_Mutation_p.Q127R|MUC4_uc010hzu.1_Missense_Mutation_p.Q1026R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1171	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		AAGGCTCACCTGATAAAATGT	0.602													C	195498524	T	C	195498524	3	2	165	1	0	0	0	0	1	0	0	0	9978	1594	55	3	3081	3	MUC4	3	195498524	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	252693	195498524	2523906	323	89476											
MUC4	4585	broad.mit.edu	37	chr3	195515664	195515664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactgttgagaaggtgtcGgttgcctgggacgccaggct	18	8	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:195515664G>A	uc011bto.1	-	2	3247	c.2787C>T	c.(2785-2787)ACC>ACT	p.T929T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.T811T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	934	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		AGAAGGTGTCGGTTGCCTGGG	0.582													A	195515664	G	A	195515664	2	1	165	1	0	0	0	0	0	0	0	1	9978	1103	39	1		1	MUC4	3	195515664	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	17140	195515664	2506766	324	89477											
LRRC33	375387	broad.mit.edu	37	chr3	196386812	196386812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgcatcagccgcggcGccttccaggagcaaggtcac	14	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr3:196386812G>A	uc003fwv.2	+	3	402	c.298G>A	c.(298-300)GCC>ACC	p.A100T		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	100	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-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;0.00326)		CAGCCGCGGCGCCTTCCAGGA	0.657													A	196386812	G	A	196386812	3	1	165	1	0	0	0	0	1	0	0	0	8988	1087	38	1	304	1	LRRC33	3	196386812	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	871148	196386812	1635618	325	89478											
PIGG	54872	broad.mit.edu	37	chr4	515569	515569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatcctggttctttcgGccgttcacgtcattgtgtgc	12	10	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:515569G>A	uc003gak.3	+	8	1589	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	PIGG_uc003gaj.3_Missense_Mutation_p.A477T|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A352T|PIGG_uc003gal.3_Missense_Mutation_p.A396T|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.A396T	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	485	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GGTTCTTTCGGCCGTTCACGT	0.577													A	515569	G	A	515569	3	1	165	1	0	0	0	0	1	0	0	0	11888	1203	42	2	1483	2	PIGG	4	515569	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		515569	190638707	326	89479											
SPON2	10417	broad.mit.edu	37	chr4	1165663	1165664	+	Frame_Shift_Ins	INS	-	-	G													cagcgaagaccactgcgcagINSgggggcggaacagggggtac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:1165662_1165663A>AG	uc003gco.4	-	1	526_527	c.197_198T>CT	c.(196-198)cctfs	p.P66fs	SPON2_uc021xkj.1_Frame_Shift_Ins_p.P66fs|SPON2_uc010ibr.3_Frame_Shift_Ins_p.P66fs|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	66	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACCACTGCGCAGGGGGGCGGAA	0.678													G	1165664	-	G	1165663	7	5	165	1	0	1	1	0	0	0	0	0	15082	1000	35	0	818	0	SPON2	4	1165663	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	650094	1165663	189988613	327	89480											
NOP14	8602	broad.mit.edu	37	chr4	2944054	2944054	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgagttcttcccaagcgctCtgaaagggtgcaccagagtg	12	12	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:2944054C>A	uc003ggj.1	-	14	1988	c.1916G>T	c.(1915-1917)AGA>ATA	p.R639I	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.R385I|NOP14_uc003ggk.3_Missense_Mutation_p.R639I|NOP14_uc003ggl.2_Missense_Mutation_p.R639I	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	639					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			pancreas(1)	1						CCCAAGCGCTCTGAAAGGGTG	0.602													A	2944054	C	A	2944054	3	1	165	1	0	0	0	0	1	0	0	0	10536	913	32	5	677	5	NOP14	4	2944054	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1778391	2944054	188210222	328	89481											
OTOP1	133060	broad.mit.edu	37	chr4	4190572	4190572	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagagggaggcagctgcgtgCattcgatagaaaatagaaaa	13	5	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:4190572C>G	uc003ghp.1	-	6	1827	c.1797G>C	c.(1795-1797)ATG>ATC	p.M599I		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	599					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGCTGCGTGCATTCGATAGA	0.458													G	4190572	C	G	4190572	3	3	165	1	0	0	0	0	1	0	0	0	11305	710	25	5	45	5	OTOP1	4	4190572	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1246518	4190572	186963704	329	89482											
STK32B	55351	broad.mit.edu	37	chr4	5461854	5461854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaaggatcctgagagcCgcgtgtccagccttcatgac	11	13	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:5461854C>T	uc003gih.1	+	9	872	c.808C>T	c.(808-810)CGC>TGC	p.R270C	STK32B_uc010ida.1_Missense_Mutation_p.R223C	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	270	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						TCCTGAGAGCCGCGTGTCCAG	0.567											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	5461854	C	T	5461854	3	4	165	1	0	0	0	0	1	0	0	0	15297	652	23	1	842	1	STK32B	4	5461854	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1271282	5461854	185692422	330	89483											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107525	6107525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatcttggcggtgcgcGccgcctcctgctcgtgctgc	13	16	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:6107525G>A	uc003giu.3	-	3	575	c.299C>T	c.(298-300)GCG>GTG	p.A100V	JAKMIP1_uc010idb.1_Missense_Mutation_p.A100V|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A100V|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.A100V|JAKMIP1_uc010ide.2_Missense_Mutation_p.A100V	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	100	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GGCGGTGCGCGCCGCCTCCTG	0.682													A	6107525	G	A	6107525	3	1	165	1	0	0	0	0	1	0	0	0	7940	1087	38	1	2347	1	JAKMIP1	4	6107525	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	645671	6107525	185046751	331	89484											
KIAA0232	9778	broad.mit.edu	37	chr4	6863563	6863563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatattgacctcactgGgacctcattatgttctctac	8	10	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:6863563G>T	uc003gjr.3	+	7	1917	c.1454G>T	c.(1453-1455)GGG>GTG	p.G485V	KIAA0232_uc003gjq.3_Missense_Mutation_p.G485V	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	485							ATP binding			ovary(2)	2						GACCTCACTGGGACCTCATTA	0.363													T	6863563	G	T	6863563	3	4	165	1	0	0	0	0	1	0	0	0	8163	1232	43	5	1472	5	KIAA0232	4	6863563	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	756038	6863563	184290713	332	89485											
SH3TC1	54436	broad.mit.edu	37	chr4	8229894	8229894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccggagtccgtgccatcGtggaccacctggtggccctg	14	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:8229894G>A	uc003gkv.3	+	12	2574	c.2473G>A	c.(2473-2475)GTG>ATG	p.V825M	SH3TC1_uc003gkw.3_Missense_Mutation_p.V749M|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	825							binding			large_intestine(2)|pancreas(1)	3						CCGTGCCATCGTGGACCACCT	0.662													A	8229894	G	A	8229894	3	1	165	1	0	0	0	0	1	0	0	0	14261	1145	40	1	2515	1	SH3TC1	4	8229894	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1366331	8229894	182924382	333	89486											
GPR78	27201	broad.mit.edu	37	chr4	8582915	8582915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgctcggtgtgatgcGcgggcggacaccgtcggcgc	17	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:8582915G>A	uc003glk.2	+	1	625	c.206G>A	c.(205-207)CGC>CAC	p.R69H	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	69	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GGTGTGATGCGCGGGCGGACA	0.692													A	8582915	G	A	8582915	3	1	165	1	0	0	0	0	1	0	0	0	6710	1087	38	1	208	1	GPR78	4	8582915	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	353021	8582915	182571361	334	89487											
DRD5	1816	broad.mit.edu	37	chr4	9784426	9784426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcccaggtgcagatccgcaGgatttcctccctggagaggg	14	13	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:9784426G>T	uc003gmb.3	+	1	1169	c.773G>T	c.(772-774)AGG>ATG	p.R258M		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	258	Cytoplasmic (Potential).				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				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGATCCGCAGGATTTCCTCC	0.632													T	9784426	G	T	9784426	3	4	165	1	0	0	0	0	1	0	0	0	4760	1000	35	5	775	5	DRD5	4	9784426	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1201511	9784426	181369850	335	89488											
SLC2A9	56606	broad.mit.edu	37	chr4	9922008	9922008	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgggccccaggactcaCtgcattgaggccacagagct	11	16	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:9922008C>G	uc003gmc.2	-	7	1063	c.1002_splice	c.e7+1	p.A334_splice	SLC2A9_uc003gmd.2_Splice_Site_p.A305_splice	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein						glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						CCAGGACTCACTGCATTGAGG	0.512													G	9922008	C	G	9922008	5	3	165	1	0	0	0	0	0	0	1	0	14552	579	20	5	643	5	SLC2A9	4	9922008	Splice_Site	SNP	C	TCGA-CG-4305-01A-01D-1158-08	137582	9922008	181232268	336	89489											
CPEB2	132864	broad.mit.edu	37	chr4	15054158	15054158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggagagcgaatagaacGcttctctcgaaaagtttttg	10	6	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15054158G>A	uc003gni.1	+	6	1073	c.986G>A	c.(985-987)CGC>CAC	p.R329H	CPEB2_uc003gnj.1_Missense_Mutation_p.R299H|CPEB2_uc003gnk.1_Missense_Mutation_p.R337H|CPEB2_uc003gnl.1_Missense_Mutation_p.R310H|CPEB2_uc003gnm.1_Missense_Mutation_p.R307H|CPEB2_uc003gnn.1_Missense_Mutation_p.R302H	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	329					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						CGAATAGAACGCTTCTCTCGA	0.368													A	15054158	G	A	15054158	3	1	165	1	0	0	0	0	1	0	0	0	3801	1087	38	1	2356	1	CPEB2	4	15054158	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5132150	15054158	176100118	337	89490											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444376	15444376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgggtttctcttatacGttgacacagattacctagat	7	10	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15444376G>A	uc011bxb.1	+	3	1050	c.823G>A	c.(823-825)GTT>ATT	p.V275I	C1QTNF7_uc003gno.2_Missense_Mutation_p.V282I|C1QTNF7_uc003gnp.2_Missense_Mutation_p.V275I	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	275	C1q.					collagen					0						TCTCTTATACGTTGACACAGA	0.448													A	15444376	G	A	15444376	3	1	165	1	0	0	0	0	1	0	0	0	1968	1145	40	1	854	1	C1QTNF7	4	15444376	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	390218	15444376	175709900	338	89491											
CC2D2A	57545	broad.mit.edu	37	chr4	15529170	15529170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggttaatcttcactcAtcatccctgttttagccgag	7	11	5	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15529170A>G	uc010idv.2	+	13	1495	c.1250A>G	c.(1249-1251)CAT>CGT	p.H417R	CC2D2A_uc003gnx.2_Missense_Mutation_p.H368R|CC2D2A_uc003gnv.2_Missense_Mutation_p.H417R	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	417					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ATCTTCACTCATCATCCCTGT	0.443													G	15529170	A	G	15529170	3	3	165	1	0	0	0	0	1	0	0	0	2728	217	8	3	1495	3	CC2D2A	4	15529170	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	84794	15529170	175625106	339	89492											
CD38	952	broad.mit.edu	37	chr4	15780178	15780178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcgtcccgaggtggcgCcagcagtggagcggtccggg	20	11	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15780178C>T	uc011bxc.1	+	1	248	c.141C>T	c.(139-141)CGC>CGT	p.R47R	CD38_uc003goj.1_Silent_p.R47R|CD38_uc003gol.1_Silent_p.R47R	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	47	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						CGAGGTGGCGCCAGCAGTGGA	0.627													T	15780178	C	T	15780178	2	4	165	1	0	0	0	0	0	0	0	1	3009	726	26	2		2	CD38	4	15780178	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	251008	15780178	175374098	340	89493											
CD38	952	broad.mit.edu	37	chr4	15826541	15826541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaagatctggcccatcAgttcacacaggtccagcggg	10	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:15826541A>G	uc011bxc.1	+	3	508	c.401A>G	c.(400-402)CAG>CGG	p.Q134R	CD38_uc003goj.1_Missense_Mutation_p.Q134R|CD38_uc003gol.1_Missense_Mutation_p.Q134R	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	134	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						CTGGCCCATCAGTTCACACAG	0.378													G	15826541	A	G	15826541	3	3	165	1	0	0	0	0	1	0	0	0	3009	188	7	3	411	3	CD38	4	15826541	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	46363	15826541	175327735	341	89494											
SLIT2	9353	broad.mit.edu	37	chr4	20487859	20487859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattactagactttctgtGgcaagtttcaaccatatgcc	6	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:20487859G>A	uc003gpr.1	+	7	780	c.576G>A	c.(574-576)GTG>GTA	p.V192V	SLIT2_uc003gps.1_Silent_p.V192V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	192	LRR 6.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						GACTTTCTGTGGCAAGTTTCA	0.274													A	20487859	G	A	20487859	2	1	165	1	0	0	0	0	0	0	0	1	14740	1335	47	4		4	SLIT2	4	20487859	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4661318	20487859	170666417	342	89495											
DHX15	1665	broad.mit.edu	37	chr4	24541861	24541861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaattcagtcagatctccAtcatcatttaaagcagccag	5	13	5	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:24541861A>G	uc003gqx.2	-	10	1824	c.1656T>C	c.(1654-1656)GAT>GAC	p.D552D	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	552					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				TCAGATCTCCATCATCATTTA	0.418													G	24541861	A	G	24541861	2	3	165	1	0	0	0	0	0	0	0	1	4501	214	8	3		3	DHX15	4	24541861	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4054002	24541861	166612415	343	89496											
SEL1L3	23231	broad.mit.edu	37	chr4	25823650	25823650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactgcgaaggcgatagtActtcaggggtccaaaaaacc	11	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:25823650A>G	uc003gru.3	-	7	1410	c.1258T>C	c.(1258-1260)TAC>CAC	p.Y420H		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	420						integral to membrane	binding				0						AGGCGATAGTACTTCAGGGGT	0.552													G	25823650	A	G	25823650	3	3	165	1	0	0	0	0	1	0	0	0	14012	391	14	3	2212	3	SEL1L3	4	25823650	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1281789	25823650	165330626	344	89497											
TBC1D19	55296	broad.mit.edu	37	chr4	26675418	26675418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagcagaacaagatagtGctgctgctcaacagtacatc	8	10	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:26675418G>A	uc003gsf.3	+	11	994	c.724G>A	c.(724-726)GCT>ACT	p.A242T	TBC1D19_uc010iew.2_Missense_Mutation_p.A242T|TBC1D19_uc011bxu.1_Missense_Mutation_p.A177T	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	242						intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				ACAAGATAGTGCTGCTGCTCA	0.378													A	26675418	G	A	26675418	3	1	165	1	0	0	0	0	1	0	0	0	15604	1319	46	2	766	2	TBC1D19	4	26675418	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	851768	26675418	164478858	345	89498											
ARAP2	116984	broad.mit.edu	37	chr4	36081901	36081901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactatcacaacacaggtgCctgcaaaacgaggtttataa	8	9	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:36081901C>T	uc003gsq.1	-	31	4883	c.4545G>A	c.(4543-4545)TGG>TGA	p.W1515*		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1515	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AACACAGGTGCCTGCAAAACG	0.398													T	36081901	C	T	36081901	4	4	165	1	0	0	0	0	0	1	0	0	839	753	26	2	581	2	ARAP2	4	36081901	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	9406483	36081901	155072375	346	89499											
KLB	152831	broad.mit.edu	37	chr4	39409119	39409119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctggacgctctagtgCttagaaacattgaacctata	7	10	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:39409119C>T	uc003gua.2	+	1	647	c.550C>T	c.(550-552)CTT>TTT	p.L184F	KLB_uc011byj.1_Missense_Mutation_p.L184F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	184	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						CGCTCTAGTGCTTAGAAACAT	0.403													T	39409119	C	T	39409119	3	4	165	1	0	0	0	0	1	0	0	0	8332	797	28	2	552	2	KLB	4	39409119	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3327218	39409119	151745157	347	89500											
N4BP2	55728	broad.mit.edu	37	chr4	40122019	40122019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaaagagcaacagtaaCgaaaaaagcctttgggaaac	11	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:40122019C>T	uc003guy.3	+	9	2626	c.2288C>T	c.(2287-2289)ACG>ATG	p.T763M	N4BP2_uc010ifq.2_Missense_Mutation_p.T683M|N4BP2_uc010ifr.2_Missense_Mutation_p.T683M	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	763						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						GCAACAGTAACGAAAAAAGCC	0.373													T	40122019	C	T	40122019	3	4	165	1	0	0	0	0	1	0	0	0	10110	536	19	1	2314	1	N4BP2	4	40122019	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	712900	40122019	151032257	348	89501											
LIMCH1	22998	broad.mit.edu	37	chr4	41678464	41678464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggcaacaggaacaGgaacgtttgctccaggtagg	13	7	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:41678464G>A	uc003gvu.3	+	18	2406	c.2352G>A	c.(2350-2352)CAG>CAA	p.Q784Q	LIMCH1_uc003gvv.3_Silent_p.Q784Q|LIMCH1_uc003gvw.3_Silent_p.Q783Q|LIMCH1_uc003gvx.3_Silent_p.Q796Q|LIMCH1_uc003gwe.3_Intron|LIMCH1_uc003gvy.3_Silent_p.Q612Q|LIMCH1_uc003gwa.3_Silent_p.Q624Q|LIMCH1_uc003gvz.3_Silent_p.Q1168Q|LIMCH1_uc011byu.1_Silent_p.Q617Q|LIMCH1_uc003gwc.3_Silent_p.Q629Q|LIMCH1_uc003gwd.3_Silent_p.Q617Q|LIMCH1_uc011byv.1_Silent_p.Q534Q|LIMCH1_uc011byw.1_Silent_p.Q83Q	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	784	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AACAGGAACAGGAACGTTTGC	0.423													A	41678464	G	A	41678464	2	1	165	1	0	0	0	0	0	0	0	1	8797	991	35	4		4	LIMCH1	4	41678464	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1556445	41678464	149475812	349	89502											
PDGFRA	5156	broad.mit.edu	37	chr4	55133804	55133804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacattttgttgtagaggtGcgggcctacccacctcccag	10	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:55133804G>A	uc003han.3	+	7	1348	c.1017G>A	c.(1015-1017)GTG>GTA	p.V339V	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.V233V|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	339	Ig-like C2-type 4.|Extracellular (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	TTGTAGAGGTGCGGGCCTACC	0.448			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55133804	G	A	55133804	2	1	165	1	0	0	0	0	0	0	0	1	11661	1306	46	2		2	PDGFRA	4	55133804	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	13455340	55133804	136020472	350	89503											
TMEM165	55858	broad.mit.edu	37	chr4	56277913	56277913	+	Frame_Shift_Del	DEL	T	T	-													ctgaattgggtgataagacaTtttttatagcagccatcatg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:56277912_56277912AT>A	uc003hax.2	+	1	606	c.339_339AT>A	c.(337-339)acafs	p.T113fs	TMEM165_uc011bzy.1_Frame_Shift_Del_p.T50fs	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	Homo sapiens transmembrane protein 165 (TMEM165), mRNA.	113						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)			GTGATAAGACATTTTTTATAG	0.433													-	56277913	T	-	56277913	7	5	165	1	0	1	0	1	0	0	0	0	16077	1493	52	0	346	0	TMEM165	4	56277913	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1144109	56277913	134876363	351	89504											
KIAA1211	57482	broad.mit.edu	37	chr4	57179385	57179385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccgttaaaccgtctcGgccaaaaaggcacttctctt	7	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:57179385G>A	uc003hbk.2	+	7	768	c.377G>A	c.(376-378)CGG>CAG	p.R126Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R119Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R36Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R12Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	126										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AAACCGTCTCGGCCAAAAAGG	0.537													A	57179385	G	A	57179385	3	1	165	1	0	0	0	0	1	0	0	0	8215	1116	39	1	391	1	KIAA1211	4	57179385	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	901472	57179385	133974891	352	89505											
LPHN3	23284	broad.mit.edu	37	chr4	62453059	62453059	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatgatagaaagtgccaActatggcaggactgatgaca	10	8	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:62453059A>C	uc010ihh.2	+	2	343	c.170A>C	c.(169-171)AAC>ACC	p.N57T	LPHN3_uc003hcq.3_Missense_Mutation_p.N57T|LPHN3_uc010ihg.1_Missense_Mutation_p.N125T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	57	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GAAAGTGCCAACTATGGCAGG	0.463													C	62453059	A	C	62453059	3	2	165	1	0	0	0	0	1	0	0	0	8917	43	2	5	176	5	LPHN3	4	62453059	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5273674	62453059	128701217	353	89506											
EPHA5	2044	broad.mit.edu	37	chr4	66233108	66233108	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatgcatcttttcctcttCtggatcttgttttgctttgc	6	9	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:66233108C>A	uc003hcy.2	-	10	2084	c.1891G>T	c.(1891-1893)GAA>TAA	p.E631*	EPHA5_uc003hcx.2_Nonsense_Mutation_p.E563*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E609*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E632*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E610*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E632*	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	631	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)			A	66233108	C	A	66233108	4	1	165	1	0	0	0	0	0	1	0	0	5170	922	32	5	1258	5	EPHA5	4	66233108	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3780049	66233108	124921168	354	89507											
YTHDC1	91746	broad.mit.edu	37	chr4	69182138	69182138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatagtaaggatggtgtGgaggttgttccattcctggg	16	5	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:69182138G>A	uc003hdx.2	-	16	2206	c.1853C>T	c.(1852-1854)CCA>CTA	p.P618L	YTHDC1_uc003hdy.2_Missense_Mutation_p.P600L	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	618	Pro-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						AGGATGGTGTGGAGGTTGTTC	0.443													A	69182138	G	A	69182138	3	1	165	1	0	0	0	0	1	0	0	0	17493	1348	47	4	338	4	YTHDC1	4	69182138	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2949030	69182138	121972138	355	89508											
ADAMTS3	9508	broad.mit.edu	37	chr4	73184391	73184391	+	Frame_Shift_Del	DEL	A	A	-													agtttaggccaatcatgatcAaaagggtcatcaaggagaca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:73184390_73184390CA>C	uc003hgk.2	-	9	1421	c.1384_1384TG>G	c.(1384-1386)gatfs	p.D462fs		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	462					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)			CAATCATGATCAAAAGGGTCA	0.353													-	73184391	A	-	73184391	7	5	165	1	0	1	0	1	0	0	0	0	267	127	5	0	2286	0	ADAMTS3	4	73184391	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	4002253	73184391	117969885	356	89509											
NUP54	53371	broad.mit.edu	37	chr4	77053839	77053839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgaagtaccatttggCgaacgctcaacaacataaat	6	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:77053839C>T	uc003hjs.2	-	6	872	c.744G>A	c.(742-744)TCG>TCA	p.S248S	NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_Silent_p.S68S|NUP54_uc011cbt.1_Silent_p.S200S|NUP54_uc003hjt.2_Silent_p.S68S	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	248	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				ovary(1)|lung(1)	2						TACCATTTGGCGAACGCTCAA	0.373													T	77053839	C	T	77053839	2	4	165	1	0	0	0	0	0	0	0	1	10767	755	27	1		1	NUP54	4	77053839	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3869448	77053839	114100437	357	89510											
FRAS1	80144	broad.mit.edu	37	chr4	79400860	79400860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacggctttcactgtcAgtgaggacgcaggtaatgga	13	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:79400860A>C	uc003hlb.2	+	56	8871	c.8431A>C	c.(8431-8433)AGT>CGT	p.S2811R		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2806	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTTCACTGTCAGTGAGGACGC	0.522													C	79400860	A	C	79400860	3	2	165	1	0	0	0	0	1	0	0	0	6042	188	7	5	8728	5	FRAS1	4	79400860	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2347021	79400860	111753416	358	89511											
SEC31A	22872	broad.mit.edu	37	chr4	83748700	83748700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactggagctgaaggctgtTgctgcagcatttgtgactgg	15	7	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:83748700T>C	uc003hnf.2	-	24	3277	c.3113A>G	c.(3112-3114)CAA>CGA	p.Q1038R	SEC31A_uc003hnd.2_Missense_Mutation_p.Q207R|SEC31A_uc003hne.2_Missense_Mutation_p.Q787R|SEC31A_uc011ccl.1_Missense_Mutation_p.Q984R|SEC31A_uc003hnl.2_Missense_Mutation_p.Q885R|SEC31A_uc003hng.2_Missense_Mutation_p.Q1023R|SEC31A_uc003hnh.2_Missense_Mutation_p.Q1038R|SEC31A_uc003hni.2_Missense_Mutation_p.Q924R|SEC31A_uc003hnj.2_Missense_Mutation_p.Q999R|SEC31A_uc011ccm.1_Missense_Mutation_p.Q1018R|SEC31A_uc011ccn.1_Missense_Mutation_p.Q1023R|SEC31A_uc003hnk.2_Missense_Mutation_p.Q999R|SEC31A_uc003hnm.2_Missense_Mutation_p.Q1038R	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	1038	Interaction with PDCD6.|Pro-rich.				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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TGAAGGCTGTTGCTGCAGCAT	0.522													C	83748700	T	C	83748700	3	2	165	1	0	0	0	0	1	0	0	0	13998	1812	63	3	565	3	SEC31A	4	83748700	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	4347840	83748700	107405576	359	89512											
DMP1	1758	broad.mit.edu	37	chr4	88583610	88583611	+	Frame_Shift_Ins	INS	-	-	G													gagagcatcaggagtgaaagINSgggaaactccagaatgaaca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:88583609_88583610A>AG	uc003hqv.3	+	5	783_784	c.679_680A>AG	c.(679-681)aggfs	p.R227fs	DMP1_uc003hqw.3_Frame_Shift_Ins_p.R211fs	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	227					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)		CAGGAGTGAAAGGGGAAACTCC	0.52													G	88583611	-	G	88583610	7	5	165	1	0	1	1	0	0	0	0	0	4583	1000	35	0	698	0	DMP1	4	88583610	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	4834910	88583610	102570666	360	89513											
MEPE	56955	broad.mit.edu	37	chr4	88766899	88766899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaagtgaagctgagagTactcatcttgacacaaaaaa	9	9	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:88766899T>C	uc003hqy.2	+	4	918	c.879T>C	c.(877-879)AGT>AGC	p.S293S	MEPE_uc010ikn.2_Silent_p.S180S	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	293					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGCTGAGAGTACTCATCTTG	0.433													C	88766899	T	C	88766899	2	2	165	1	0	0	0	0	0	0	0	1	9478	1635	57	3		3	MEPE	4	88766899	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	183289	88766899	102387377	361	89514											
HERC5	51191	broad.mit.edu	37	chr4	89380524	89380524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaattaggaaaaaacatgAagatacattccgtggaccaa	7	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:89380524A>G	uc003hrt.2	+	2	445	c.292A>G	c.(292-294)AAG>GAG	p.K98E		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	98	RCC1 1.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAAAAACATGAAGATACATTC	0.353													G	89380524	A	G	89380524	3	3	165	1	0	0	0	0	1	0	0	0	7061	247	9	3	298	3	HERC5	4	89380524	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	613625	89380524	101773752	362	89515											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99363141	99363141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttatttttttgtcttccagAatgtctacacaaggaagtac	7	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:99363141A>C	uc003htx.3	+	15	1887	c.1697A>C	c.(1696-1698)GAA>GCA	p.E566A	RAP1GDS1_uc003htw.3_Missense_Mutation_p.E567A|RAP1GDS1_uc003htv.3_Missense_Mutation_p.E566A|RAP1GDS1_uc003htz.3_Missense_Mutation_p.E517A|RAP1GDS1_uc003hty.3_Missense_Mutation_p.E518A|RAP1GDS1_uc003hua.3_Missense_Mutation_p.E475A	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	566							binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGTCTTCCAGAATGTCTACAC	0.363			T	NUP98	T-ALL								C	99363141	A	C	99363141	3	2	165	1	0	0	0	0	1	0	0	0	13039	260	9	5	1758	5	RAP1GDS1	4	99363141	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	9982617	99363141	91791135	363	89516											
SEC24B	10427	broad.mit.edu	37	chr4	110437687	110437687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttattcctttcagctgCgtcctcctcaacctgcagtt	5	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:110437687C>T	uc003hzk.2	+	11	2072	c.2017C>T	c.(2017-2019)CGT>TGT	p.R673C	SEC24B_uc003hzl.2_Missense_Mutation_p.R638C|SEC24B_uc011cfp.1_Missense_Mutation_p.R703C|SEC24B_uc011cfq.1_Missense_Mutation_p.R672C|SEC24B_uc011cfr.1_Missense_Mutation_p.R637C	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	673					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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTTCAGCTGCGTCCTCCTCA	0.318													T	110437687	C	T	110437687	3	4	165	1	0	0	0	0	1	0	0	0	13995	768	27	1	2059	1	SEC24B	4	110437687	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	11074546	110437687	80716589	364	89517											
CFI	3426	broad.mit.edu	37	chr4	110662150	110662151	+	Frame_Shift_Del	DEL	CA	CA	-													acctgggaactctggttttcCacagttttccccccaactca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:110662149_110662150CCA>C	uc011cft.2	-	13	1883_1884	c.1675_1676TGG>G	c.(1675-1677)ggafs	p.G559fs	CFI_uc003hzq.3_Frame_Shift_Del_p.G348fs|CFI_uc003hzr.4_Frame_Shift_Del_p.G551fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	551	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)		CTCTGGTTTTCCACAGTTTTCC	0.45													-	110662151	CA	-	110662150	7	5	165	1	0	1	0	1	0	0	0	0	3289	603	21	0	104	0	CFI	4	110662150	Frame_Shift_Del	DEL	CA	TCGA-CG-4305-01A-01D-1158-08	224463	110662150	80492126	365	89518											
CFI	3426	broad.mit.edu	37	chr4	110682737	110682737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatagttcttctcttagtAaaagtacattcagccaaact	4	11	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:110682737A>G	uc003hzr.3	-	4	802	c.594T>C	c.(592-594)TTT>TTC	p.F198F	CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Silent_p.F198F|CFI_uc003hzs.3_Silent_p.F198F	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	198	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTCTCTTAGTAAAAGTACATT	0.398													G	110682737	A	G	110682737	2	3	165	1	0	0	0	0	0	0	0	1	3289	359	13	3		3	CFI	4	110682737	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	20587	110682737	80471539	366	89519											
C4orf21	55345	broad.mit.edu	37	chr4	113539186	113539186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagcaaaatcatagttaAttctgacttcttgaataggt	7	5	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:113539186A>T	uc003iau.2	-	6	2223	c.2012T>A	c.(2011-2013)ATT>AAT	p.I671N	C4orf21_uc003iaw.2_Missense_Mutation_p.I671N	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCATAGTTAATTCTGACTTC	0.303													T	113539186	A	T	113539186	3	4	165	1	0	0	0	0	1	0	0	0	2254	101	4	5	4394	5	C4orf21	4	113539186	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2856449	113539186	77615090	367	89520											
ANK2	287	broad.mit.edu	37	chr4	114290799	114290799	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacctccagaccccaacAtccagcgagcggggaggctc	11	16	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:114290799A>T	uc003ibe.3	+	43	11548	c.11448A>T	c.(11446-11448)ACA>ACT	p.T3816T	ANK2_uc003ibd.3_Silent_p.T1722T|ANK2_uc003ibf.3_Silent_p.T1731T|ANK2_uc011cgc.1_Silent_p.T907T|ANK2_uc003ibg.3_Silent_p.T715T|ANK2_uc003ibh.3_Silent_p.T405T|ANK2_uc011cgd.1_Silent_p.T1118T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3783					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGACCCCAACATCCAGCGAGC	0.567													T	114290799	A	T	114290799	2	4	165	1	0	0	0	0	0	0	0	1	621	204	8	5		5	ANK2	4	114290799	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	751613	114290799	76863477	368	89521											
NDST4	64579	broad.mit.edu	37	chr4	115997561	115997561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggaagagggcctttcTcaaccttgggggctttggta	13	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:115997561T>G	uc003ibu.2	-	2	1311	c.632A>C	c.(631-633)GAG>GCG	p.E211A	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	211	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGGGCCTTTCTCAACCTTGGG	0.408													G	115997561	T	G	115997561	3	3	165	1	0	0	0	0	1	0	0	0	10258	1551	54	5	2038	5	NDST4	4	115997561	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1706762	115997561	75156715	369	89522											
SYNPO2	171024	broad.mit.edu	37	chr4	119951913	119951913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcccagccagccttttaCgattcgtctgagcgaatagc	10	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:119951913C>T	uc003icm.3	+	4	2179	c.1983C>T	c.(1981-1983)TAC>TAT	p.Y661Y	SYNPO2_uc010ina.2_Silent_p.Y661Y|SYNPO2_uc010inb.2_Silent_p.Y661Y|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.Y589Y	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	661						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CAGCCTTTTACGATTCGTCTG	0.572													T	119951913	C	T	119951913	2	4	165	1	0	0	0	0	0	0	0	1	15454	547	19	1		1	SYNPO2	4	119951913	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3954352	119951913	71202363	370	89523											
PCDH10	57575	broad.mit.edu	37	chr4	134071388	134071388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggagcaggaacatggCactttcgtggggaatatcgc	15	8	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:134071388C>T	uc003iha.2	+	1	919	c.93C>T	c.(91-93)GGC>GGT	p.G31G	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.G31G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	31	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGAACATGGCACTTTCGTGG	0.493													T	134071388	C	T	134071388	2	4	165	1	0	0	0	0	0	0	0	1	11507	697	25	2		2	PCDH10	4	134071388	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	14119475	134071388	57082888	371	89524											
FBXW7	55294	broad.mit.edu	37	chr4	153245514	153245514	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacacggattgatgtatcAagagatccactcaccacatg	7	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:153245514A>G	uc003ims.2	-	11	1826	c.1677T>C	c.(1675-1677)CTT>CTC	p.L559L	FBXW7_uc011cii.1_Silent_p.L559L|FBXW7_uc003imt.2_Silent_p.L559L|FBXW7_uc011cih.1_Silent_p.L383L|FBXW7_uc003imq.2_Silent_p.L479L|FBXW7_uc003imr.2_Silent_p.L441L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	559	WD 5.				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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGATGTATCAAGAGATCCAC	0.398			Mis|N|D|F		colorectal|endometrial|T-ALL								G	153245514	A	G	153245514	2	3	165	1	0	0	0	0	0	0	0	1	5769	117	5	3		3	FBXW7	4	153245514	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	19174126	153245514	37908762	372	89525											
RNF175	285533	broad.mit.edu	37	chr4	154649450	154649450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacatagacagaaaccGccaccagtataattttatcg	5	14	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:154649450G>A	uc003int.2	-	4	683	c.310C>T	c.(310-312)CGG>TGG	p.R104W	RNF175_uc003inu.1_Intron	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	104	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GACAGAAACCGCCACCAGTAT	0.448													A	154649450	G	A	154649450	3	1	165	1	0	0	0	0	1	0	0	0	13463	1086	38	1	700	1	RNF175	4	154649450	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1403936	154649450	36504826	373	89526											
DCHS2	54798	broad.mit.edu	37	chr4	155163803	155163803	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacttaccttctgtaaTttccactgcttcagagggga	8	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:155163803T>C	uc003inw.2	-	22	5698	c.5698A>G	c.(5698-5700)ATT>GTT	p.I1900V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1900	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTTCTGTAATTTCCACTGCT	0.308													C	155163803	T	C	155163803	3	2	165	1	0	0	0	0	1	0	0	0	4288	1493	52	3	3068	3	DCHS2	4	155163803	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	514353	155163803	35990473	374	89527											
PLRG1	5356	broad.mit.edu	37	chr4	155463418	155463418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatcgaacccagccaagaTgcccactgataacctgtata	6	13	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:155463418T>C	uc003iny.2	-	8	671	c.608A>G	c.(607-609)CAT>CGT	p.H203R	PLRG1_uc003inz.2_Missense_Mutation_p.H194R|PLRG1_uc011cil.1_Missense_Mutation_p.H42R	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	203	WD 1.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				CCAGCCAAGATGCCCACTGAT	0.403													C	155463418	T	C	155463418	3	2	165	1	0	0	0	0	1	0	0	0	12106	1464	51	3	968	3	PLRG1	4	155463418	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	299615	155463418	35690858	375	89528											
TRIM60	166655	broad.mit.edu	37	chr4	165961252	165961252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgacagccctggtgaacCtccaagaggagtctagctgt	12	10	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:165961252C>A	uc003iqy.1	+	3	198	c.28C>A	c.(28-30)CTC>ATC	p.L10I	TRIM60_uc010iqx.1_Missense_Mutation_p.L10I	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	10						intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CCTGGTGAACCTCCAAGAGGA	0.522													A	165961252	C	A	165961252	3	1	165	1	0	0	0	0	1	0	0	0	16532	681	24	5	30	5	TRIM60	4	165961252	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	10497834	165961252	25193024	376	89529											
WDR17	116966	broad.mit.edu	37	chr4	177056319	177056319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgatcctaatcttttagcaAcagcttcatttgatggcact	6	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:177056319A>G	uc003iuj.2	+	9	1387	c.1231A>G	c.(1231-1233)ACA>GCA	p.T411A	WDR17_uc003iuk.2_Missense_Mutation_p.T387A|WDR17_uc003ium.3_Missense_Mutation_p.T387A|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	411	WD 6.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		TCTTTTAGCAACAGCTTCATT	0.363													G	177056319	A	G	177056319	3	3	165	1	0	0	0	0	1	0	0	0	17274	43	2	3	1261	3	WDR17	4	177056319	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	11095067	177056319	14097957	377	89530											
VEGFC	7424	broad.mit.edu	37	chr4	177649058	177649058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcgcgactccaaactcCttccccacatctatacacac	3	17	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:177649058C>T	uc003ius.1	-	3	856	c.426G>A	c.(424-426)AAG>AAA	p.K142K		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	142					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			lung(5)	5		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)		CTCCAAACTCCTTCCCCACAT	0.473													T	177649058	C	T	177649058	2	4	165	1	0	0	0	0	0	0	0	1	17149	680	24	4		4	VEGFC	4	177649058	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	592739	177649058	13505218	378	89531											
ODZ3	55714	broad.mit.edu	37	chr4	183574966	183574966	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctacagcagactgAaaatgacacatttgagaatg	10	8	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:183574966A>C	uc003ivd.1	+	5	1068	c.1031A>C	c.(1030-1032)GAA>GCA	p.E344A		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	344	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGCAGACTGAAAATGACACA	0.418													C	183574966	A	C	183574966	3	2	165	1	0	0	0	0	1	0	0	0	10836	246	9	5	1049	5	ODZ3	4	183574966	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5925908	183574966	7579310	379	89532											
ZFP42	132625	broad.mit.edu	37	chr4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaatgtgggaaagcgttcGttgagagctcaaaactaaag	13	6	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:188924640G>A	uc003izg.1	+	3	924	c.679G>A	c.(679-681)GTT>ATT	p.V227I	ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	227	C2H2-type 2.				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		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)		GAAAGCGTTCGTTGAGAGCTC	0.502													A	188924640	G	A	188924640	3	1	165	1	0	0	0	0	1	0	0	0	17647	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5349674	188924640	2229636	380	89533											
TRIML2	205860	broad.mit.edu	37	chr4	189012969	189012969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgcagccagcaccatgGcactgaaatccaatctttct	6	15	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:189012969G>A	uc003izl.2	-	7	758	c.722C>T	c.(721-723)GCC>GTC	p.A241V	TRIML2_uc003izj.1_Missense_Mutation_p.A69V|TRIML2_uc003izk.1_Missense_Mutation_p.A49V|TRIML2_uc011cle.1_Missense_Mutation_p.A316V	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	241	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		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)		CAGCACCATGGCACTGAAATC	0.567													A	189012969	G	A	189012969	3	1	165	1	0	0	0	0	1	0	0	0	16548	1203	42	2	445	2	TRIML2	4	189012969	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	88329	189012969	2141307	381	89534											
TRIML1	339976	broad.mit.edu	37	chr4	189060814	189060814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccgagtgtgggcacagCttttgtctggtgtgtctcct	12	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr4:189060814C>T	uc003izm.1	+	1	217	c.102C>T	c.(100-102)AGC>AGT	p.S34S		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	34	RING-type.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		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)		GTGGGCACAGCTTTTGTCTGG	0.522													T	189060814	C	T	189060814	2	4	165	1	0	0	0	0	0	0	0	1	16547	796	28	2		2	TRIML1	4	189060814	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	47845	189060814	2093462	382	89535											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182314	182314	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctgcccacagcccctGgtcatctgatatcagagcct	9	16	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:182314G>A	uc003jak.2	+	18	3742	c.3692G>A	c.(3691-3693)TGG>TAG	p.W1231*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1231	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACAGCCCCTGGTCATCTGAT	0.642													A	182314	G	A	182314	4	1	165	1	0	0	0	0	0	1	0	0	12072	1357	47	4	3762	4	PLEKHG4B	5	182314	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		182314	180732946	383	89536											
KIAA0947	23379	broad.mit.edu	37	chr5	5469044	5469044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgcagttagttgccagGcaacgtgctaaaggagaggt	14	7	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:5469044G>A	uc003jdm.3	+	15	6387	c.6165G>A	c.(6163-6165)AGG>AGA	p.R2055R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2055										ovary(1)|central_nervous_system(1)	2						TAGTTGCCAGGCAACGTGCTA	0.363													A	5469044	G	A	5469044	2	1	165	1	0	0	0	0	0	0	0	1	8202	1194	42	2		2	KIAA0947	5	5469044	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5286730	5469044	175446216	384	89537											
PAPD7	11044	broad.mit.edu	37	chr5	6746416	6746416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgggagaaattttaaTtacttgaaaaccggtattag	8	5	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:6746416T>C	uc003jdx.1	+	7	714	c.585T>C	c.(583-585)AAT>AAC	p.N195N	PAPD7_uc011cmn.1_Silent_p.N186N|PAPD7_uc010itl.1_Silent_p.N15N	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	195	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			ovary(1)	1						GAAATTTTAATTACTTGAAAA	0.418											OREG0016494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	6746416	T	C	6746416	2	2	165	1	0	0	0	0	0	0	0	1	11426	1490	52	3		3	PAPD7	5	6746416	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1277372	6746416	174168844	385	89538											
FASTKD3	79072	broad.mit.edu	37	chr5	7863113	7863113	+	Splice_Site	DEL	A	A	-													aggaaggagttttggaccctAaaaaatcataagtgcaaatg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:7863112_7863112TA>T	uc003jeb.3	-	4	1697	c.1525_splice	c.e4-1	p.G509_splice	FASTKD3_uc011cmp.2_Splice_Site_p.G211_splice|FASTKD3_uc003jec.3_Splice_Site	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	509					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						TTTTGGACCCTAAAAAATCAT	0.343													-	7863113	A	-	7863113	8	5	165	1	0	1	0	1	0	0	1	0	5687	377	13	0		0	FASTKD3	5	7863113	Splice_Site	DEL	A	TCGA-CG-4305-01A-01D-1158-08	1116697	7863113	173052147	386	89539											
DNAH5	1767	broad.mit.edu	37	chr5	13841161	13841161	+	Frame_Shift_Del	DEL	T	T	-													ctgattagttttctgcatgaTttttttatcaaacttggcat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:13841160_13841160AT>A	uc003jfd.2	-	33	5606	c.5564_5564AT>T	c.(5563-5565)atcfs	p.I1855fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1855	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1855M(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)					TTTCTGCATGATTTTTTTATC	0.398									Kartagener syndrome				-	13841161	T	-	13841161	7	5	165	1	0	1	0	1	0	0	0	0	4604	1493	52	0	8495	0	DNAH5	5	13841161	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	5978048	13841161	167074099	387	89540											
TRIO	7204	broad.mit.edu	37	chr5	14363893	14363893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcagcaaatgaatgActtcgacacagaagatctca	7	10	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:14363893A>G	uc003jff.2	+	14	2450	c.2444A>G	c.(2443-2445)GAC>GGC	p.D815G	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.D766G|TRIO_uc003jfh.1_Missense_Mutation_p.D464G	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	815					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CAAATGAATGACTTCGACACA	0.428													G	14363893	A	G	14363893	3	3	165	1	0	0	0	0	1	0	0	0	16549	275	10	3	2498	3	TRIO	5	14363893	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	522732	14363893	166551367	388	89541											
CDH12	1010	broad.mit.edu	37	chr5	21752243	21752243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcctccccacctcctTcatcatcgtaatggatgacg	5	15	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:21752243T>C	uc010iuc.2	-	12	2446	c.1988A>G	c.(1987-1989)GAA>GGA	p.E663G	CDH12_uc011cno.1_Missense_Mutation_p.E623G|CDH12_uc003jgk.2_Missense_Mutation_p.E663G|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	663	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCCACCTCCTTCATCATCGTA	0.453										HNSCC(59;0.17)			C	21752243	T	C	21752243	3	2	165	1	0	0	0	0	1	0	0	0	3098	1783	62	3	400	3	CDH12	5	21752243	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	7388350	21752243	159163017	389	89542											
CDH12	1010	broad.mit.edu	37	chr5	21755909	21755909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaactcttgctgcctgCggctgtatccatttcttcgg	8	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:21755909C>T	uc010iuc.2	-	11	2134	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	CDH12_uc011cno.1_Missense_Mutation_p.R519H|CDH12_uc003jgk.2_Missense_Mutation_p.R559H|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	559	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TTGCTGCCTGCGGCTGTATCC	0.428										HNSCC(59;0.17)			T	21755909	C	T	21755909	3	4	165	1	0	0	0	0	1	0	0	0	3098	768	27	1	716	1	CDH12	5	21755909	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3666	21755909	159159351	390	89543											
NPR3	4883	broad.mit.edu	37	chr5	32712163	32712163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgggaggcggcttctgcCgccgggcactcgcttccagg	16	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:32712163C>A	uc003jhv.2	+	1	499	c.281C>A	c.(280-282)CCG>CAG	p.P94Q	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.P94Q	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	94	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	CGGCTTCTGCCGCCGGGCACT	0.667													A	32712163	C	A	32712163	3	1	165	1	0	0	0	0	1	0	0	0	10596	652	23	5	283	5	NPR3	5	32712163	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	10956254	32712163	148203097	391	89544											
DNAJC21	134218	broad.mit.edu	37	chr5	34937566	34937566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaagaaaacaaaaagattCgggacaaagcaaggaaagag	10	4	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:34937566C>T	uc003jjc.2	+	5	801	c.574C>T	c.(574-576)CGG>TGG	p.R192W	DNAJC21_uc003jjb.2_Missense_Mutation_p.R192W|DNAJC21_uc010iuu.1_Missense_Mutation_p.R76W	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	192					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAAAAAGATTCGGGACAAAGC	0.423													T	34937566	C	T	34937566	3	4	165	1	0	0	0	0	1	0	0	0	4640	875	31	1	592	1	DNAJC21	5	34937566	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2225403	34937566	145977694	392	89545											
UGT3A1	133688	broad.mit.edu	37	chr5	35954433	35954433	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcaatgaggtactgctcAtgccaaggctgctggaaggc	12	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:35954433A>G	uc003jjv.1	-	7	1600	c.1443T>C	c.(1441-1443)CAT>CAC	p.H481H	UGT3A1_uc003jjw.1_RNA	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	481	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTACTGCTCATGCCAAGGCT	0.617													G	35954433	A	G	35954433	2	3	165	1	0	0	0	0	0	0	0	1	16960	214	8	3		3	UGT3A1	5	35954433	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1016867	35954433	144960827	393	89546											
NIPBL	25836	broad.mit.edu	37	chr5	37022159	37022159	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgcttggcagatcctaCgagttcttggtgaaaatgca	11	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:37022159C>T	uc003jkl.3	+	28	5834	c.5335C>T	c.(5335-5337)CGA>TGA	p.R1779*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1779*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1779	HEAT 1.				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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			GCAGATCCTACGAGTTCTTGG	0.323													T	37022159	C	T	37022159	4	4	165	1	0	0	0	0	0	1	0	0	10428	528	19	1	5441	1	NIPBL	5	37022159	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1067726	37022159	143893101	394	89547											
NUP155	9631	broad.mit.edu	37	chr5	37309279	37309279	+	Frame_Shift_Del	DEL	T	T	-													aaggtccacttgattgctaaTtttttgatattcctttaatg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:37309278_37309278AT>A	uc003jku.1	-	23	2838	c.2720_2720AT>T	c.(2719-2721)attfs	p.I907fs	NUP155_uc003jkt.1_Frame_Shift_Del_p.I848fs|NUP155_uc010iuz.1_Frame_Shift_Del_p.I843fs	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	907					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)			TTGATTGCTAATTTTTTGATA	0.338													-	37309279	T	-	37309279	7	5	165	1	0	1	0	1	0	0	0	0	10756	1493	52	0	1504	0	NUP155	5	37309279	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	287120	37309279	143605981	395	89548											
RICTOR	253260	broad.mit.edu	37	chr5	38946657	38946658	+	Splice_Site	INS	-	-	A													tagggaatatcctttacctaINSaaaaaagatataaaccatgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:38946656_38946657T>TA	uc003jlo.2	-	34	4409	c.4387_splice	c.e34-1	p.V1463_splice	RICTOR_uc003jlp.2_Splice_Site_p.V1439_splice|RICTOR_uc010ivf.2_Splice_Site_p.V1154_splice	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1439					T cell costimulation|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	TORC2 complex|cytosol	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)					ATCCTTTACCTAAAAAAAGATA	0.322													A	38946658	-	A	38946657	8	5	165	1	0	1	1	0	0	0	1	0	13358	377	13	0		0	RICTOR	5	38946657	Splice_Site	INS	-	TCGA-CG-4305-01A-01D-1158-08	1637378	38946657	141968603	396	89549											
DHX29	54505	broad.mit.edu	37	chr5	54586064	54586064	+	Frame_Shift_Del	DEL	T	T	-													acctctttgaaatttccttaTtttttcctgagcctcttttt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:54586063_54586063AT>A	uc003jpx.3	-	6	1010	c.890_890AT>T	c.(889-891)atafs	p.I297fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	297							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)				AAATTTCCTTATTTTTTCCTG	0.353													-	54586064	T	-	54586064	7	5	165	1	0	1	0	1	0	0	0	0	4503	1493	52	0	3304	0	DHX29	5	54586064	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	15639407	54586064	126329196	397	89550											
SGTB	54557	broad.mit.edu	37	chr5	65016588	65016588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatctgactttgttccCgtaagaaacgaataactgca	7	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:65016588C>T	uc003jud.2	-	2	267	c.47G>A	c.(46-48)CGG>CAG	p.R16Q	NLN_uc003jue.2_5'Flank|NLN_uc003juf.2_5'Flank	NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	16	TPR 1.						binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ACTTTGTTCCCGTAAGAAACG	0.338													T	65016588	C	T	65016588	3	4	165	1	0	0	0	0	1	0	0	0	14226	652	23	1	907	1	SGTB	5	65016588	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	10430524	65016588	115898672	398	89551											
CRHBP	1393	broad.mit.edu	37	chr5	76250013	76250013	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcgacttcctgaaggTgaggcgcccacggccagcca	16	14	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:76250013T>C	uc003ker.2	+	3	613	c.333_splice	c.e3+2	p.K111_splice	CRHBP_uc010izx.2_Splice_Site_p.K111_splice	NM_001882	NP_001873	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein						female pregnancy|learning or memory|signal transduction	soluble fraction					0		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)		TTCCTGAAGGTGAGGCGCCCA	0.657													C	76250013	T	C	76250013	5	2	165	1	0	0	0	0	0	0	1	0	3870	1710	59	3	345	3	CRHBP	5	76250013	Splice_Site	SNP	T	TCGA-CG-4305-01A-01D-1158-08	11233425	76250013	104665247	399	89552											
PAPD4	167153	broad.mit.edu	37	chr5	78981033	78981033	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccagtcatggcacagAttgaaaaacaagagagattt	8	9	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:78981033A>T	uc010jae.1	+	16	1810	c.1392A>T	c.(1390-1392)AGA>AGT	p.R464S	PAPD4_uc003kgb.2_Missense_Mutation_p.R464S|PAPD4_uc010jaf.1_Missense_Mutation_p.R464S|PAPD4_uc003kga.2_Missense_Mutation_p.R460S|PAPD4_uc003kfz.2_Missense_Mutation_p.R421S	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	464					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CATGGCACAGATTGAAAAACA	0.323													T	78981033	A	T	78981033	3	4	165	1	0	0	0	0	1	0	0	0	11424	330	12	5	1446	5	PAPD4	5	78981033	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2731020	78981033	101934227	400	89553											
RASA1	5921	broad.mit.edu	37	chr5	86629108	86629108	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagatagaaggcgtgtaCgagctattctaccttacaca	9	8	1	3	rs137853218		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:86629108C>T	uc003kiw.2	+	4	971	c.853C>T	c.(853-855)CGA>TGA	p.R285*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R108*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R118*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R119*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R108*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	285	SH3.				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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		AAGGCGTGTACGAGCTATTCT	0.313													T	86629108	C	T	86629108	4	4	165	1	0	0	0	0	0	1	0	0	13060	528	19	1	879	1	RASA1	5	86629108	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7648075	86629108	94286152	401	89554											
LIX1	167410	broad.mit.edu	37	chr5	96430680	96430680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatgatccagtccagGgccatgtggctgcgcatctt	10	13	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:96430680G>T	uc003kmy.3	-	6	861	c.621C>A	c.(619-621)GCC>GCA	p.A207A		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	limb expression 1	207										ovary(1)	1		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TCCAGTCCAGGGCCATGTGGC	0.507													T	96430680	G	T	96430680	2	4	165	1	0	0	0	0	0	0	0	1	8831	1219	43	5		5	LIX1	5	96430680	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	9801572	96430680	84484580	402	89555											
CHD1	1105	broad.mit.edu	37	chr5	98206409	98206409	+	Frame_Shift_Del	DEL	T	T	-													accgcaccagaaagagcttcTttttttgcaagatctctact							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:98206408_98206408CT>C	uc003knf.3	-	27	4109	c.3961_3961AG>G	c.(3961-3963)gaafs	p.E1321fs	CHD1_uc010jbn.3_Frame_Shift_Del_p.E47fs	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1321					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	p.E1321fs*22(1)		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)	GAAAGAGCTTCTTTTTTTGCA	0.383													-	98206409	T	-	98206409	7	5	165	1	0	1	0	1	0	0	0	0	3323	1606	56	0	1204	0	CHD1	5	98206409	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1775729	98206409	82708851	403	89556	440	2									
CHD1	1105	broad.mit.edu	37	chr5	98206418	98206418	+	Silent	SNP	A	A	C													gaaagagcttctttttttgcAagatctctactaagtaattt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:98206418A>C	uc003knf.2	-	28	4099	c.3951T>G	c.(3949-3951)CTT>CTG	p.L1317L	CHD1_uc010jbn.2_Silent_p.L43L	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1317					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			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		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)	CTTTTTTTGCAAGATCTCTAC	0.383													C	98206418	A	C	98206418	2	2	165	1	0	0	0	0	0	0	0	1	3323	117	5	5		5	CHD1	5	98206418	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	9	98206418	82708842	404	89557	440	2									
SLCO6A1	133482	broad.mit.edu	37	chr5	101735414	101735414	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctgcagttattaaTccttctttaatgcaagaaca	5	9	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:101735414T>A	uc003knn.2	-	10	1831	c.1659A>T	c.(1657-1659)GGA>GGT	p.G553G	SLCO6A1_uc003kno.2_Silent_p.G300G|SLCO6A1_uc003knp.2_Silent_p.G553G|SLCO6A1_uc003knq.2_Silent_p.G491G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	553	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		CAGTTATTAATCCTTCTTTAA	0.323													A	101735414	T	A	101735414	2	1	165	1	0	0	0	0	0	0	0	1	14732	1422	50	5		5	SLCO6A1	5	101735414	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3528996	101735414	79179846	405	89558											
EFNA5	1946	broad.mit.edu	37	chr5	106716966	106716966	+	Frame_Shift_Del	DEL	A	A	-													ggagactgtgctataatgtcAaaagcatcgccaggaggaac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:106716965_106716965CA>C	uc003kol.3	-	4	960	c.678_678TG>G	c.(676-678)ttgfs	p.L226fs		NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	226					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GCTATAATGTCAAAAGCATCG	0.522													-	106716966	A	-	106716966	7	5	165	1	0	1	0	1	0	0	0	0	4954	131	5	0	13	0	EFNA5	5	106716966	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	4981552	106716966	74198294	406	89559											
WDR36	134430	broad.mit.edu	37	chr5	110440035	110440035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcttgtcacaaatggcgCtgacaatgctcttagggtat	9	9	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:110440035C>A	uc003kpd.2	+	8	1175	c.1058C>A	c.(1057-1059)GCT>GAT	p.A353D	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	353	WD 4.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		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)		ACAAATGGCGCTGACAATGCT	0.378													A	110440035	C	A	110440035	3	1	165	1	0	0	0	0	1	0	0	0	17287	797	28	5	1088	5	WDR36	5	110440035	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3723069	110440035	70475225	407	89560											
EPB41L4A	64097	broad.mit.edu	37	chr5	111570349	111570349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagctggctgtgtttgtgCtattcgcttagggtaagtct	12	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:111570349C>A	uc003kpv.1	-	12	1343	c.1069G>T	c.(1069-1071)GCA>TCA	p.A357S		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	357						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		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)		TGTGTTTGTGCTATTCGCTTA	0.453													A	111570349	C	A	111570349	3	1	165	1	0	0	0	0	1	0	0	0	5155	797	28	5	1039	5	EPB41L4A	5	111570349	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1130314	111570349	69344911	408	89561											
MCC	4163	broad.mit.edu	37	chr5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-													ttggtgtgtggcctggagttCtcctcctctagcagagctat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:112363034_112363036TCTC>T	uc003kql.4	-	18	3439_3441	c.3023_3025GAGA>A	c.(3022-3027)gagaac>gAac	p.N1009del	MCC_uc003kqj.4_In_Frame_Del_p.N819del|MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	819					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	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)		GGCCTGGAGTTCTCCTCCTCTAG	0.507													-	112363037	CTC	-	112363035	7	5	165	1	0	1	0	1	0	0	0	0	9373	912	32	0	39	0	MCC	5	112363035	In_Frame_Del	DEL	CTC	TCGA-CG-4305-01A-01D-1158-08	792686	112363035	68552225	409	89562											
MCC	4163	broad.mit.edu	37	chr5	112364690	112364690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtcggatttcactGctcttggtgagtctctccaa	10	10	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:112364690G>A	uc003kqj.3	-	16	2780	c.2250C>T	c.(2248-2250)AGC>AGT	p.S750S	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.S940S	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	750					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			ovary(1)	1		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)		GGATTTCACTGCTCTTGGTGA	0.478													A	112364690	G	A	112364690	2	1	165	1	0	0	0	0	0	0	0	1	9373	1310	46	2		2	MCC	5	112364690	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1655	112364690	68550570	410	89563											
YTHDC2	64848	broad.mit.edu	37	chr5	112902884	112902884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattggtggcaggcatgTatcctaatttagtccacgtg	11	9	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:112902884T>C	uc003kqn.2	+	22	3121	c.2938T>C	c.(2938-2940)TAT>CAT	p.Y980H		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	980							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		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)		GGCAGGCATGTATCCTAATTT	0.463													C	112902884	T	C	112902884	3	2	165	1	0	0	0	0	1	0	0	0	17494	1638	57	3	3024	3	YTHDC2	5	112902884	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	538194	112902884	68012376	411	89564											
SRFBP1	153443	broad.mit.edu	37	chr5	121355909	121355909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatggaagtaatttacagcGtgaagcaactgtcatcagtg	10	6	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:121355909G>A	uc003kst.1	+	6	551	c.479G>A	c.(478-480)CGT>CAT	p.R160H		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		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)		AATTTACAGCGTGAAGCAACT	0.333													A	121355909	G	A	121355909	3	1	165	1	0	0	0	0	1	0	0	0	15143	1145	40	1	501	1	SRFBP1	5	121355909	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	8453025	121355909	59559351	412	89565											
ZNF608	57507	broad.mit.edu	37	chr5	123984684	123984685	+	Frame_Shift_Ins	INS	-	-	C													cgcctccctttcccattggcINScccccctctgttcttattct					rs151227213		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:123984683_123984684G>GC	uc003ktq.1	-	3	1576_1577	c.1393_1394C>GC	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Ins_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Ins_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						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)		TTTCCCATTGGCCCCCCCTCTG	0.629													C	123984685	-	C	123984684	7	5	165	1	0	1	1	0	0	0	0	0	18031	739	26	0	3169	0	ZNF608	5	123984684	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	2628775	123984684	56930576	413	89566											
FSTL4	23105	broad.mit.edu	37	chr5	132648366	132648366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggccatgtagaactcgCggagggtcagggagctgtca	17	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:132648366C>T	uc003kyn.1	-	6	925	c.707G>A	c.(706-708)CGC>CAC	p.R236H		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	236						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAGAACTCGCGGAGGGTCAG	0.532													T	132648366	C	T	132648366	3	4	165	1	0	0	0	0	1	0	0	0	6079	768	27	1	1865	1	FSTL4	5	132648366	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8663682	132648366	48266894	414	89567											
KDM3B	51780	broad.mit.edu	37	chr5	137729022	137729022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttaaggaacaggagcaagAtgattctactgtagcctgcc	11	8	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:137729022A>G	uc003lcy.1	+	9	2992	c.2792A>G	c.(2791-2793)GAT>GGT	p.D931G	KDM3B_uc010jew.1_Missense_Mutation_p.D587G|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	931					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			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CAGGAGCAAGATGATTCTACT	0.488													G	137729022	A	G	137729022	3	3	165	1	0	0	0	0	1	0	0	0	8127	333	12	3	2826	3	KDM3B	5	137729022	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5080656	137729022	43186238	415	89568											
EGR1	1958	broad.mit.edu	37	chr5	137802740	137802740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatccaacgacagcagtcCcatttactcagcggcaccca	7	17	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:137802740C>A	uc003ldb.1	+	2	872	c.602C>A	c.(601-603)CCC>CAC	p.P201H	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	201					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACAGCAGTCCCATTTACTCA	0.667													A	137802740	C	A	137802740	3	1	165	1	0	0	0	0	1	0	0	0	4971	623	22	5	608	5	EGR1	5	137802740	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	73718	137802740	43112520	416	89569											
PCDHA4	56144	broad.mit.edu	37	chr5	140187861	140187861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccaattagagaggacgcTccactgggtacagtcatcgc	10	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140187861T>C	uc003lhi.2	+	1	1190	c.1089T>C	c.(1087-1089)GCT>GCC	p.A363A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A363A|PCDHA4_uc011daa.1_Silent_p.A363A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	363	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGGACGCTCCACTGGGTA	0.488													C	140187861	T	C	140187861	2	2	165	1	0	0	0	0	0	0	0	1	11526	1538	54	3		3	PCDHA4	5	140187861	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2385121	140187861	40727399	417	89570											
PCDHA9	9752	broad.mit.edu	37	chr5	140228550	140228550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtttccactagagggcgCgtccgatgcagatatcgggg	15	10	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140228550C>T	uc003lhu.2	+	1	1194	c.470C>T	c.(469-471)GCG>GTG	p.A157V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A157V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGAGGGCGCGTCCGATGCA	0.532													T	140228550	C	T	140228550	3	4	165	1	0	0	0	0	1	0	0	0	11531	768	27	1	472	1	PCDHA9	5	140228550	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	40689	140228550	40686710	418	89571											
PCDHA10	56139	broad.mit.edu	37	chr5	140237067	140237067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcttcacggtgtctgcGtgggacgcggacgcgcagga	15	12	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140237067G>A	uc003lhx.2	+	1	1434	c.1434G>A	c.(1432-1434)GCG>GCA	p.A478A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.A478A|PCDHA10_uc011dad.1_Silent_p.A478A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	478	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTCTGCGTGGGACGCGG	0.662													A	140237067	G	A	140237067	2	1	165	1	0	0	0	0	0	0	0	1	11520	1132	40	1		1	PCDHA10	5	140237067	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	8517	140237067	40678193	419	89572											
PCDHA11	56138	broad.mit.edu	37	chr5	140250883	140250883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccactgagggcgcgtgcgCgccggggaagcccacgctgg	18	15	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140250883C>T	uc003lia.2	+	1	3053	c.2195C>T	c.(2194-2196)GCG>GTG	p.A732V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A732V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	732	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCGCGCCGGGGAAG	0.677													T	140250883	C	T	140250883	3	4	165	1	0	0	0	0	1	0	0	0	11521	768	27	1	2197	1	PCDHA11	5	140250883	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	13816	140250883	40664377	420	89573											
PCDHB6	56130	broad.mit.edu	37	chr5	140531449	140531449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagaccgcggctccccGgcgttgagcagcgaggcgct	15	16	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140531449G>A	uc003lir.2	+	1	1611	c.1611G>A	c.(1609-1611)CCG>CCA	p.P537P	PCDHB6_uc011dah.1_Silent_p.P401P	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	537	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTCCCCGGCGTTGAGCA	0.672													A	140531449	G	A	140531449	2	1	165	1	0	0	0	0	0	0	0	1	11546	1103	39	1		1	PCDHB6	5	140531449	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	280566	140531449	40383811	421	89574											
PCDHB10	56126	broad.mit.edu	37	chr5	140572181	140572182	+	Frame_Shift_Ins	INS	-	-	T													caagtcctgtttctttttctINStttttggggagtgtccttgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140572180_140572181C>CT	uc003lix.3	+	0	229_230	c.55_56C>CT	c.(55-57)cttfs	p.L19fs		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	19					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)			GTTTCTTTTTCTTTTTTGGGGA	0.475													T	140572182	-	T	140572181	7	5	165	1	0	1	1	0	0	0	0	0	11535	1609	56	0	58	0	PCDHB10	5	140572181	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	40732	140572181	40343079	422	89575											
PCDHB13	56123	broad.mit.edu	37	chr5	140594940	140594940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagacagagaaagcagagcGgaatacaacatcactatcac	8	10	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140594940G>A	uc003lja.1	+	1	1432	c.1245G>A	c.(1243-1245)GCG>GCA	p.A415A		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	415	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGCAGAGCGGAATACAACA	0.483													A	140594940	G	A	140594940	2	1	165	1	0	0	0	0	0	0	0	1	11538	1103	39	1		1	PCDHB13	5	140594940	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	22759	140594940	40320320	423	89576											
PCDHGB2	56103	broad.mit.edu	37	chr5	140739873	140739873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggatctggggctcagCgtccgggacttgccagcccg	15	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140739873C>T	uc003ljs.1	+	1	171	c.171C>T	c.(169-171)AGC>AGT	p.S57S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Silent_p.S57S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	57	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTCAGCGTCCGGGACT	0.557													T	140739873	C	T	140739873	2	4	165	1	0	0	0	0	0	0	0	1	11563	767	27	1		1	PCDHGB2	5	140739873	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	144933	140739873	40175387	424	89577											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769248	140769248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcagactcaggacacaaCgcctggctgtcctaccacgt	10	15	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140769248C>T	uc003lkc.1	+	1	1797	c.1797C>T	c.(1795-1797)AAC>AAT	p.N599N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.N599N	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	599	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGACACAACGCCTGGCTGT	0.662													T	140769248	C	T	140769248	2	4	165	1	0	0	0	0	0	0	0	1	11565	535	19	1		1	PCDHGB4	5	140769248	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	29375	140769248	40146012	425	89578											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772597	140772597	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtctccagaggtaggacgCagctctttgctctgaacccg	11	13	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140772597C>T	uc003lkd.1	+	1	1115	c.217C>T	c.(217-219)CAG>TAG	p.Q73*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Nonsense_Mutation_p.Q73*	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	73	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAGGACGCAGCTCTTTGC	0.607													T	140772597	C	T	140772597	4	4	165	1	0	0	0	0	0	1	0	0	11560	711	25	2	219	2	PCDHGA8	5	140772597	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3349	140772597	40142663	426	89579											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812558	140812558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcactttgtgggcgtggaCggggtgcaggctttcctgca	16	10	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:140812558C>T	uc003lkt.1	+	1	2401	c.2232C>T	c.(2230-2232)GAC>GAT	p.D744D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.D744D	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	744	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTGCAGG	0.642													T	140812558	C	T	140812558	2	4	165	1	0	0	0	0	0	0	0	1	11553	535	19	1		1	PCDHGA12	5	140812558	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	39961	140812558	40102702	427	89580											
FCHSD1	89848	broad.mit.edu	37	chr5	141028998	141028998	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttggcgctccgccctgtAccccctgctaggtcacggta	10	17	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:141028998A>G	uc003llk.2	-	5	390	c.339T>C	c.(337-339)GGT>GGC	p.G113G	FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	113									FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCCCTGTACCCCCTGCTA	0.627													G	141028998	A	G	141028998	2	3	165	1	0	0	0	0	0	0	0	1	5789	378	14	3		3	FCHSD1	5	141028998	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	216440	141028998	39886262	428	89581											
PCDH1	5097	broad.mit.edu	37	chr5	141233894	141233894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgctcttggtccggcGgctgggagatgactggccag	18	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:141233894G>T	uc003llp.2	-	5	3544	c.3427C>A	c.(3427-3429)CGC>AGC	p.R1143S		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		TTGGTCCGGCGGCTGGGAGAT	0.657													T	141233894	G	T	141233894	3	4	165	1	0	0	0	0	1	0	0	0	11506	1116	39	5	290	5	PCDH1	5	141233894	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	204896	141233894	39681366	429	89582											
KIAA0141	9812	broad.mit.edu	37	chr5	141312947	141312947	+	Frame_Shift_Del	DEL	C	C	-													tcatgagcatggcagaggcaCccccagggacattagcaagg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:141312946_141312946AC>A	uc003lls.3	+	7	999	c.877_877AC>A	c.(877-879)accfs	p.T293fs	KIAA0141_uc003llt.3_Frame_Shift_Del_p.T293fs	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	293					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGAGGCACCCCCAGGGA	0.577													-	141312947	C	-	141312947	7	5	165	1	0	1	0	1	0	0	0	0	8156	507	18	0	908	0	KIAA0141	5	141312947	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	79053	141312947	39602313	430	89583											
SPINK5	11005	broad.mit.edu	37	chr5	147499622	147499622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatggaaaactcatctgCactcgagaaagtgaccctgt	8	9	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:147499622C>T	uc003lox.2	+	25	2437	c.2364C>T	c.(2362-2364)TGC>TGT	p.C788C	SPINK5_uc010jgr.2_Silent_p.C769C|SPINK5_uc003low.2_Silent_p.C788C|SPINK5_uc003loy.2_Silent_p.C788C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	788	Kazal-like 12.				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			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCATCTGCACTCGAGAAA	0.378													T	147499622	C	T	147499622	2	4	165	1	0	0	0	0	0	0	0	1	15061	718	25	2		2	SPINK5	5	147499622	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6186675	147499622	33415638	431	89584											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747916	148747916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggaggcagctgtttggcGagtccagtcccccaagcccc	12	16	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:148747916G>A	uc003lqk.2	+	6	1246	c.1184G>A	c.(1183-1185)CGA>CAA	p.R395Q	PCYOX1L_uc003lql.2_Missense_Mutation_p.R378Q|PCYOX1L_uc010jgz.2_Missense_Mutation_p.R319Q|PCYOX1L_uc003lqm.2_Missense_Mutation_p.R277Q|PCYOX1L_uc003lqn.2_Missense_Mutation_p.R305Q	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like precursor	395					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTTTGGCGAGTCCAGTCC	0.572											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	148747916	G	A	148747916	3	1	165	1	0	0	0	0	1	0	0	0	11609	1058	37	1	1206	1	PCYOX1L	5	148747916	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1248294	148747916	32167344	432	89585											
PDE6A	5145	broad.mit.edu	37	chr5	149314176	149314176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccactttattcacagCcatgattatggccaccacat	4	14	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:149314176C>T	uc003lrg.3	-	2	700	c.580G>A	c.(580-582)GCT>ACT	p.A194T		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	194	GAF 1.				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			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTATTCACAGCCATGATTATG	0.458													T	149314176	C	T	149314176	3	4	165	1	0	0	0	0	1	0	0	0	11645	739	26	2	2086	2	PDE6A	5	149314176	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	566260	149314176	31601084	433	89586											
FAT2	2196	broad.mit.edu	37	chr5	150887067	150887067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatgataatgaacgccacGgccactgtgatgatcagtaa	9	9	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:150887067G>A	uc003lue.3	-	22	12178	c.12165C>T	c.(12163-12165)GCC>GCT	p.A4055A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.A662A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4055	Helical; (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACGCCACGGCCACTGTGA	0.572													A	150887067	G	A	150887067	2	1	165	1	0	0	0	0	0	0	0	1	5690	1103	39	1		1	FAT2	5	150887067	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1572891	150887067	30028193	434	89587											
ITK	3702	broad.mit.edu	37	chr5	156608073	156608073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcgaactttaaagtcCgcttctttgtgttaaccaaa	5	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:156608073C>T	uc003lwo.1	+	1	167	c.85C>T	c.(85-87)CGC>TGC	p.R29C		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	29	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTAAAGTCCGCTTCTTTGT	0.398			T	SYK	peripheral T-cell lymphoma								T	156608073	C	T	156608073	3	4	165	1	0	0	0	0	1	0	0	0	7909	652	23	1	87	1	ITK	5	156608073	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5721006	156608073	24307187	435	89588											
SOX30	11063	broad.mit.edu	37	chr5	157078490	157078490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgggcttttgcctgcCccgccttgcatcgagtctct	11	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:157078490C>T	uc003lxb.1	-	1	939	c.597G>A	c.(595-597)GGG>GGA	p.G199G	SOX30_uc003lxc.1_Silent_p.G199G|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	199					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			TTTTGCCTGCCCCGCCTTGCA	0.657													T	157078490	C	T	157078490	2	4	165	1	0	0	0	0	0	0	0	1	14952	610	22	4		4	SOX30	5	157078490	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	470417	157078490	23836770	436	89589											
RNF145	153830	broad.mit.edu	37	chr5	158588398	158588398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaccccagctgggccCgaagccacacgttatagtag	9	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:158588398C>T	uc003lxp.2	-	10	1815	c.1502G>A	c.(1501-1503)CGG>CAG	p.R501Q	RNF145_uc011ddy.1_Missense_Mutation_p.R515Q|RNF145_uc003lxo.1_Missense_Mutation_p.R529Q|RNF145_uc011ddz.1_Missense_Mutation_p.R518Q|RNF145_uc010jiq.1_Missense_Mutation_p.R531Q	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	501	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCTGGGCCCGAAGCCACAC	0.478													T	158588398	C	T	158588398	3	4	165	1	0	0	0	0	1	0	0	0	13447	652	23	1	497	1	RNF145	5	158588398	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1509908	158588398	22326862	437	89590											
FABP6	2172	broad.mit.edu	37	chr5	159661892	159661892	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aactatcaccagacctcagaGatcgtgggtgacaagctggt	11	10	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:159661892G>T	uc003lya.1	+	3	437	c.309G>T	c.(307-309)GAG>GAT	p.E103D	FABP6_uc003lxx.1_Missense_Mutation_p.E152D|FABP6_uc003lxz.1_Missense_Mutation_p.E152D	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	103					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	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)			AGACCTCAGAGATCGTGGGTG	0.522													T	159661892	G	T	159661892	3	4	165	1	0	0	0	0	1	0	0	0	5361	933	33	5	474	5	FABP6	5	159661892	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1073494	159661892	21253368	438	89591											
GABRP	2568	broad.mit.edu	37	chr5	170232795	170232795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggactggaacacctgcGgcttgctcagtacaccatag	12	12	1	0	rs150667747		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:170232795G>A	uc003mau.2	+	7	815	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	GABRP_uc011dev.1_Missense_Mutation_p.R206Q	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	206	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	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)			GAACACCTGCGGCTTGCTCAG	0.483													A	170232795	G	A	170232795	3	1	165	1	0	0	0	0	1	0	0	0	6174	1116	39	1	639	1	GABRP	5	170232795	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	10570903	170232795	10682465	439	89592											
NOP16	51491	broad.mit.edu	37	chr5	175811191	175811191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctccagcttcactggtcCgggggacgcctcagcctggg	15	14	2	0	rs140981968	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:175811191C>T	uc003mee.2	-	5	490	c.490G>A	c.(490-492)GGA>AGA	p.G164R	NOP16_uc003med.2_Missense_Mutation_p.G163R			Q9Y3C1	NOP16_HUMAN	SubName: Full=NOP16 protein; SubName: Full=Putative uncharacterized protein HSPC111;	Error:Variant_position_missing_in_Q9Y3C1_after_alignment						nucleolus				ovary(1)|central_nervous_system(1)	2						TTCACTGGTCCGGGGGACGCC	0.582													T	175811191	C	T	175811191	3	4	165	1	0	0	0	0	1	0	0	0	10537	667	23	1		1	NOP16	5	175811191	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5578396	175811191	5104069	440	89593											
DDX41	51428	broad.mit.edu	37	chr5	176940713	176940713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggagaagatggtacggatGtcaccctcgaagcccatgtc	12	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:176940713G>A	uc003mho.2	-	10	1092	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	DDX41_uc003mhm.2_Silent_p.D137D|DDX41_uc003mhn.2_Silent_p.D226D|DDX41_uc003mhp.2_Silent_p.D226D|DDX41_uc003mhq.1_Silent_p.D137D	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	357	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			TGGTACGGATGTCACCCTCGA	0.622													A	176940713	G	A	176940713	2	1	165	1	0	0	0	0	0	0	0	1	4361	1368	48	4		4	DDX41	5	176940713	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1129522	176940713	3974547	441	89594											
GRM6	2916	broad.mit.edu	37	chr5	178410138	178410138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgagcacccctctggcctGctcggggtccaccgtccgct	11	18	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:178410138G>T	uc003mjr.2	-	9	2388	c.2209C>A	c.(2209-2211)CAG>AAG	p.Q737K	GRM6_uc003mjq.2_Missense_Mutation_p.Q140K	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	737	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		CCTCTGGCCTGCTCGGGGTCC	0.627													T	178410138	G	T	178410138	3	4	165	1	0	0	0	0	1	0	0	0	6801	1328	46	5	432	5	GRM6	5	178410138	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1469425	178410138	2505122	442	89595											
GRM6	2916	broad.mit.edu	37	chr5	178415995	178415995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatcagtgggttccatcGccgggcacaggcctgtgtgc	14	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:178415995G>A	uc003mjr.2	-	6	1474	c.1295C>T	c.(1294-1296)GCG>GTG	p.A432V	GRM6_uc010jla.1_Missense_Mutation_p.A15V|GRM6_uc003mjs.1_Missense_Mutation_p.A52V	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	432	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		GGGTTCCATCGCCGGGCACAG	0.622													A	178415995	G	A	178415995	3	1	165	1	0	0	0	0	1	0	0	0	6801	1087	38	1	1358	1	GRM6	5	178415995	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5857	178415995	2499265	443	89596											
FLT4	2324	broad.mit.edu	37	chr5	180047711	180047711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgctgcccttatcctcGgagcctgcgtgggcagaaag	12	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:180047711G>A	uc003mma.3	-	16	2383	c.2304C>T	c.(2302-2304)TCC>TCT	p.S768S	FLT4_uc003mlz.3_Silent_p.S768S|FLT4_uc003mmb.1_Silent_p.S301S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	768	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	CCTTATCCTCGGAGCCTGCGT	0.597									Congenital_Hereditary_Lymphedema				A	180047711	G	A	180047711	2	1	165	1	0	0	0	0	0	0	0	1	5944	1103	39	1		1	FLT4	5	180047711	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1631716	180047711	867549	444	89597											
TRIM7	81786	broad.mit.edu	37	chr5	180626983	180626983	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacctcccgggacagttcCtccaggcggcctagcagccg	12	18	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr5:180626983C>A	uc003mmz.1	-	3	784	c.717G>T	c.(715-717)GAG>GAT	p.E239D	TRIM7_uc003mmv.1_Missense_Mutation_p.E57D|TRIM7_uc003mmw.1_Missense_Mutation_p.E31D|TRIM7_uc003mmx.1_Missense_Mutation_p.E31D|TRIM7_uc003mmy.1_Missense_Mutation_p.E31D	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	239	Potential.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	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)		GGGACAGTTCCTCCAGGCGGC	0.622													A	180626983	C	A	180626983	3	1	165	1	0	0	0	0	1	0	0	0	16540	680	24	5	838	5	TRIM7	5	180626983	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	579272	180626983	288277	445	89598											
F13A1	2162	broad.mit.edu	37	chr6	6318878	6318878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctgcctccaaaggcgGtcctggaagtttctgacatt	9	12	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:6318878G>A	uc003mwv.2	-	2	143	c.20C>T	c.(19-21)ACC>ATC	p.T7I	F13A1_uc011dib.1_Missense_Mutation_p.T7I	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	7					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCCAAAGGCGGTCCTGGAAGT	0.473													A	6318878	G	A	6318878	3	1	165	1	0	0	0	0	1	0	0	0	5340	1261	44	4	2234	4	F13A1	6	6318878	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		6318878	164796189	446	89599											
DSP	1832	broad.mit.edu	37	chr6	7585229	7585229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgggcagtggtgtcagCgatgatgtttttagcagctc	14	7	1	1	rs28763970	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:7585229C>T	uc003mxp.1	+	24	8013	c.7734C>T	c.(7732-7734)AGC>AGT	p.S2578S	DSP_uc003mxq.1_Silent_p.S1979S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2578	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGTGTCAGCGATGATGTTT	0.478													T	7585229	C	T	7585229	2	4	165	1	0	0	0	0	0	0	0	1	4781	767	27	1		1	DSP	6	7585229	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1266351	7585229	163529838	447	89600											
SYCP2L	221711	broad.mit.edu	37	chr6	10903158	10903158	+	Frame_Shift_Del	DEL	A	A	-													gctgtccctcgagaagagagAaaaaaattccctttgtcaga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:10903157_10903157GA>G	uc003mzo.3	+	7	898	c.602_602GA>G	c.(601-603)agafs	p.R201fs	SYCP2L_uc011din.1_Frame_Shift_Del_p.R42fs|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	201						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)			CGAGAAGAGAGAAAAAAATTC	0.388													-	10903158	A	-	10903158	7	5	165	1	0	1	0	1	0	0	0	0	15430	243	9	0	633	0	SYCP2L	6	10903158	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	3317929	10903158	160211909	448	89601											
PHACTR1	221692	broad.mit.edu	37	chr6	13228109	13228109	+	Frame_Shift_Del	DEL	G	G	-													ctgggttgcactcgggtgatGgggtcaccaaagcaggacct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:13228108_13228108TG>T	uc003nah.2	+	8	1420	c.1047_1047TG>T	c.(1045-1047)gatfs	p.D349fs	PHACTR1_uc011dir.2_Frame_Shift_Del_p.D418fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.D349fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.D349fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	349						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ACTCGGGTGATGGGGTCACCA	0.478													-	13228109	G	-	13228109	7	5	165	1	0	1	0	1	0	0	0	0	11809	1348	47	0	1074	0	PHACTR1	6	13228109	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	2324951	13228109	157886958	449	89602											
TBC1D7	51256	broad.mit.edu	37	chr6	13321315	13321315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcatgggactcgtggtgtGgaggcaagattcctagagag	17	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:13321315G>T	uc003naj.2	-	4	297	c.206C>A	c.(205-207)CCA>CAA	p.P69Q	TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nal.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nam.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nao.2_Missense_Mutation_p.P42Q|TBC1D7_uc010jpd.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nap.2_Missense_Mutation_p.P42Q|TBC1D7_uc003naq.2_Missense_Mutation_p.P42Q	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	69	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	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)			CTCGTGGTGTGGAGGCAAGAT	0.463													T	13321315	G	T	13321315	3	4	165	1	0	0	0	0	1	0	0	0	15621	1348	47	5	695	5	TBC1D7	6	13321315	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	93206	13321315	157793752	450	89603											
KIF13A	63971	broad.mit.edu	37	chr6	17826300	17826300	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatttccccataggattcGgtcaccatgccacagctggg	9	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:17826300G>A	uc003ncg.3	-	15	1693	c.1588C>T	c.(1588-1590)CGA>TGA	p.R530*	KIF13A_uc003ncf.2_Nonsense_Mutation_p.R530*|KIF13A_uc003nch.3_Nonsense_Mutation_p.R530*|KIF13A_uc003nci.3_Nonsense_Mutation_p.R530*|KIF13A_uc003ncj.2_Nonsense_Mutation_p.R206*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	530					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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATAGGATTCGGTCACCATGC	0.413													A	17826300	G	A	17826300	4	1	165	1	0	0	0	0	0	1	0	0	8274	1124	39	1	3954	1	KIF13A	6	17826300	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4504985	17826300	153288767	451	89604											
MBOAT1	154141	broad.mit.edu	37	chr6	20151475	20151475	+	Frame_Shift_Del	DEL	A	A	-													tagcacattaacaccagcacAaaaagatgcacagagtacct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:20151474_20151474CA>C	uc003ncx.1	-	2	470	c.265_265TG>G	c.(265-267)gtgfs	p.V89fs	MBOAT1_uc011dji.1_Intron	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	89					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)			AACACCAGCACAAAAAGATGC	0.373													-	20151475	A	-	20151475	7	5	165	1	0	1	0	1	0	0	0	0	9356	127	5	0	1267	0	MBOAT1	6	20151475	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	2325175	20151475	150963592	452	89605											
DCDC2	51473	broad.mit.edu	37	chr6	24175061	24175061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctttgagggtctacatcaGcctagaagaaaatagatcaa	9	7	4	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:24175061G>T	uc003ndx.2	-	10	1630	c.1328C>A	c.(1327-1329)GCT>GAT	p.A443D	DCDC2_uc003ndy.2_Missense_Mutation_p.A443D|DCDC2_uc003ndw.2_Missense_Mutation_p.A194D	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	443					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				GTCTACATCAGCCTAGAAGAA	0.348													T	24175061	G	T	24175061	3	4	165	1	0	0	0	0	1	0	0	0	4285	985	34	5	106	5	DCDC2	6	24175061	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4023586	24175061	146940006	453	89606											
ALDH5A1	7915	broad.mit.edu	37	chr6	24528248	24528248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaacaggtgaatgatgcCgtttctaaaggtgccaccgt	12	8	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:24528248C>T	uc003neg.2	+	8	1225	c.1197C>T	c.(1195-1197)GCC>GCT	p.A399A	ALDH5A1_uc003nef.2_Silent_p.A412A	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	399					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TGAATGATGCCGTTTCTAAAG	0.413													T	24528248	C	T	24528248	2	4	165	1	0	0	0	0	0	0	0	1	502	639	23	1		1	ALDH5A1	6	24528248	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	353187	24528248	146586819	454	89607											
LRRC16A	55604	broad.mit.edu	37	chr6	25540216	25540216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggtggtgcatcttgggcGggagccagtggcttactatc	16	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:25540216G>A	uc011djw.1	+	26	2614	c.2238G>A	c.(2236-2238)GCG>GCA	p.A746A	LRRC16A_uc010jpx.2_Silent_p.A746A|LRRC16A_uc010jpy.2_Silent_p.A746A|LRRC16A_uc003nfa.1_Silent_p.A100A	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	746					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CATCTTGGGCGGGAGCCAGTG	0.398													A	25540216	G	A	25540216	2	1	165	1	0	0	0	0	0	0	0	1	8971	1103	39	1		1	LRRC16A	6	25540216	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1011968	25540216	145574851	455	89608											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043776	26043776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacacatagatagaatagCtctccttgcggctgcgctta	9	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:26043776C>A	uc003nfu.2	-	1	110	c.110G>T	c.(109-111)AGC>ATC	p.S37I	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	37					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GATAGAATAGCTCTCCTTGCG	0.512													A	26043776	C	A	26043776	3	1	165	1	0	0	0	0	1	0	0	0	7141	797	28	5	274	5	HIST1H2BB	6	26043776	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	503560	26043776	145071291	456	89609											
BTN2A1	11120	broad.mit.edu	37	chr6	26468202	26468202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcctggatccagacaccGctcatcccgatctcttcctg	8	16	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:26468202G>A	uc003nib.1	+	8	1221	c.1009G>A	c.(1009-1011)GCT>ACT	p.A337T	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.A185T|BTN2A1_uc011dko.1_Missense_Mutation_p.A276T|BTN2A1_uc010jqk.1_Missense_Mutation_p.A97T	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	337	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TCCAGACACCGCTCATCCCGA	0.577													A	26468202	G	A	26468202	3	1	165	1	0	0	0	0	1	0	0	0	1560	1087	38	1	1062	1	BTN2A1	6	26468202	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	424426	26468202	144646865	457	89610											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28212908	28212908	+	Frame_Shift_Del	DEL	T	T	-													catgggtcactgtgaaagagTttttttccctacatggcttc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28212907_28212907GT>G	uc003nks.1	-	4	1869	c.1625_1625AC>C	c.(1624-1626)actfs	p.T542fs	ZKSCAN4_uc011dlb.1_Frame_Shift_Del_p.T387fs	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	542					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						CTGTGAAAGAGTTTTTTTCCC	0.443													-	28212908	T	-	28212908	7	5	165	1	0	1	0	1	0	0	0	0	17686	1725	60	0	17	0	ZKSCAN4	6	28212908	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1744706	28212908	142902159	458	89611											
PGBD1	84547	broad.mit.edu	37	chr6	28269790	28269790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgataacgaagaaaTccctcagataagtcaaccat	7	9	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28269790T>A	uc003nky.2	+	7	2529	c.2159T>A	c.(2158-2160)ATC>AAC	p.I720N	PGBD1_uc003nkz.2_Missense_Mutation_p.I720N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	720					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AACGAAGAAATCCCTCAGATA	0.413													A	28269790	T	A	28269790	3	1	165	1	0	0	0	0	1	0	0	0	11780	1435	50	5	2181	5	PGBD1	6	28269790	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	56882	28269790	142845277	459	89612											
SCAND3	114821	broad.mit.edu	37	chr6	28541299	28541299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagaattcttttggttgTgaacttatttctttatgttt	6	4	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28541299T>C	uc003nlo.2	-	4	2985	c.2367A>G	c.(2365-2367)TCA>TCG	p.S789S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	789					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						cttttggttgtgaacttattt	0													C	28541299	T	C	28541299	2	2	165	1	0	0	0	0	0	0	0	1	13876	1683	59	3		3	SCAND3	6	28541299	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	271509	28541299	142573768	460	89613											
TRIM27	5987	broad.mit.edu	37	chr6	28872041	28872043	+	In_Frame_Del	DEL	AGA	AGA	-													acacctctctgtcacgttgtAgaaggagacctcaccagcat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:28872040_28872042TAGA>T	uc003nlr.3	-	7	1706_1708	c.1347_1349TCTA>A	c.(1345-1350)ttctac>ttAc	p.449_450FY>L	TRIM27_uc003nls.3_In_Frame_Del_p.356_357ST>Y|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	449	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	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGTCACGTTGTAGAAGGAGACCT	0.542			T	RET	papillary thyroid								-	28872043	AGA	-	28872041	7	5	165	1	0	1	0	1	0	0	0	0	16498	420	15	0	197	0	TRIM27	6	28872041	In_Frame_Del	DEL	AGA	TCGA-CG-4305-01A-01D-1158-08	330742	28872041	142243026	461	89614											
OR2B3	442184	broad.mit.edu	37	chr6	29054462	29054462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggctttgtgtcagcacaTgacaacttgagaagtgcagg	12	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29054462T>C	uc003nlx.2	-	1	629	c.564A>G	c.(562-564)TCA>TCG	p.S188S		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1						TGTCAGCACATGACAACTTGA	0.458													C	29054462	T	C	29054462	2	2	165	1	0	0	0	0	0	0	0	1	10990	1451	51	3		3	OR2B3	6	29054462	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	182421	29054462	142060605	462	89615											
MAS1L	116511	broad.mit.edu	37	chr6	29455673	29455673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagcaaattttcccccAgaccatggggtgctgggacc	11	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29455673A>G	uc011dlq.1	-	1	7	c.7T>C	c.(7-9)TGG>CGG	p.W3R		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	3	Extracellular (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						ATTTTCCCCCAGACCATGGGG	0.547													G	29455673	A	G	29455673	3	3	165	1	0	0	0	0	1	0	0	0	9321	188	7	3	1131	3	MAS1L	6	29455673	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	401211	29455673	141659394	463	89616											
ZFP57	346171	broad.mit.edu	37	chr6	29641061	29641061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtgtatcttctggtggCgtttgagctcagactggtcc	13	8	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29641061C>T	uc011dlw.1	-	4	978	c.827G>A	c.(826-828)CGC>CAC	p.R276H	ZFP57_uc003nnl.3_Missense_Mutation_p.R256H	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	192	C2H2-type 4.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R276R(1)		ovary(3)|skin(2)	5						CTTCTGGTGGCGTTTGAGCTC	0.567													T	29641061	C	T	29641061	3	4	165	1	0	0	0	0	1	0	0	0	17648	768	27	1	787	1	ZFP57	6	29641061	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	185388	29641061	141474006	464	89617											
HLA-G	3135	broad.mit.edu	37	chr6	29795994	29795994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtggagcaggaggggccgGagtattgggaagaggagaca	22	4	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29795994G>A	uc003nnw.2	+	3	422	c.244G>A	c.(244-246)GAG>AAG	p.E82K	HLA-G_uc011dmb.1_Missense_Mutation_p.E54K|HLA-G_uc003raj.3_Missense_Mutation_p.E87K|HLA-G_uc003nnz.3_Missense_Mutation_p.E82K|HLA-G_uc010jrn.2_Missense_Mutation_p.E82K|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	82	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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			ovary(3)|central_nervous_system(1)	4						GGAGGGGCCGGAGTATTGGGA	0.647													A	29795994	G	A	29795994	3	1	165	1	0	0	0	0	1	0	0	0	7212	1175	41	4	250	4	HLA-G	6	29795994	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	154933	29795994	141319073	465	89618											
HLA-G	3135	broad.mit.edu	37	chr6	29797196	29797197	+	Splice_Site	INS	-	-	C													tctgactcttcctttcagacINSccccccaagacacacgtgac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:29797195_29797196A>AC	uc003nnw.2	+	5	798	c.620_splice	c.e5-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Splice_Site_p.D179_splice|HLA-G_uc003raj.3_Splice_Site_p.D212_splice|HLA-G_uc003nnz.3_Splice_Site_p.N115_splice|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Splice_Site|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCTTTCAGACCCCCCCAAGA	0.54													C	29797197	-	C	29797196	8	5	165	1	0	1	1	0	0	0	1	0	7212	521	18	0	635	0	HLA-G	6	29797196	Splice_Site	INS	-	TCGA-CG-4305-01A-01D-1158-08	1202	29797196	141317871	466	89619											
MDC1	9656	broad.mit.edu	37	chr6	30671881	30671881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcaggggtggtaggaacCggcatagctcttactgtgga	14	7	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:30671881C>T	uc003nrg.3	-	10	5519	c.5079G>A	c.(5077-5079)CCG>CCA	p.P1693P	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.P1300P	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1693					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)|ovary(1)|kidney(1)	4						TGGTAGGAACCGGCATAGCTC	0.542								Other_conserved_DNA_damage_response_genes					T	30671881	C	T	30671881	2	4	165	1	0	0	0	0	0	0	0	1	9403	639	23	1		1	MDC1	6	30671881	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	874685	30671881	140443186	467	89620											
VARS2	57176	broad.mit.edu	37	chr6	30890973	30890973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctttatcctcaatgctTtaggggagaaatttgtgcca	9	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:30890973T>C	uc003nsc.1	+	23	2910	c.2278T>C	c.(2278-2280)TTA>CTA	p.L760L	VARS2_uc011dmx.1_Silent_p.L760L|VARS2_uc011dmy.1_Silent_p.L620L|VARS2_uc011dmz.1_Silent_p.L790L|VARS2_uc011dna.1_Silent_p.L758L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.L198L|VARS2_uc010jsg.1_Silent_p.L132L|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	760					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CCTCAATGCTTTAGGGGAGAA	0.532													C	30890973	T	C	30890973	2	2	165	1	0	0	0	0	0	0	0	1	17121	1838	64	3		3	VARS2	6	30890973	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	219092	30890973	140224094	468	89621											
ATP6V1G2	534	broad.mit.edu	37	chr6	31513913	31513913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgctctggaattcgtgCtctcgctctctgcggtattg	11	11	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31513913C>A	uc003nua.2	-	2	447	c.156G>T	c.(154-156)GAG>GAT	p.E52D	BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Missense_Mutation_p.E11D|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank	NM_130463	NP_569730	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	52					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding				0						GGAATTCGTGCTCTCGCTCTC	0.582													A	31513913	C	A	31513913	3	1	165	1	0	0	0	0	1	0	0	0	1187	796	28	5	208	5	ATP6V1G2	6	31513913	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	622940	31513913	139601154	469	89622											
EHMT2	10919	broad.mit.edu	37	chr6	31855364	31855364	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcactcacacagcatcagGatcaccttctgcagctcgcc	8	16	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31855364G>A	uc003nxz.1	-	15	2011	c.2001C>T	c.(1999-2001)ATC>ATT	p.I667I	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.I458I|EHMT2_uc011don.1_Silent_p.I690I|EHMT2_uc003nya.1_Silent_p.I633I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	667	ANK 1.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						ACAGCATCAGGATCACCTTCT	0.383													A	31855364	G	A	31855364	2	1	165	1	0	0	0	0	0	0	0	1	4984	1164	41	4		4	EHMT2	6	31855364	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	341451	31855364	139259703	470	89623											
STK19	8859	broad.mit.edu	37	chr6	31939846	31939846	+	Frame_Shift_Del	DEL	G	G	-													gggcaaacccctcccggggcGggggaggtgtgagcttcacg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31939845_31939845CG>C	uc003nyv.3	+	0	200	c.72_72CG>C	c.(70-72)ggcfs	p.G24fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Del_p.G24fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Del_p.G24fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	24						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CCTCCCGGGGCGGGGGAGGTG	0.647													-	31939846	G	-	31939846	7	5	165	1	0	1	0	1	0	0	0	0	15291	1116	39	0	75	0	STK19	6	31939846	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	84482	31939846	139175221	471	89624											
C4A	720	broad.mit.edu	37	chr6	31994882	31994882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtcctctataactacCtggataaaaacctgactgtg	8	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:31994882C>T	uc011dpd.1	+	20	2626	c.2575C>T	c.(2575-2577)CTG>TTG	p.L859L	C4A_uc011dpe.1_Silent_p.L859L	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	859					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						CTATAACTACCTGGATAAAAA	0.637													T	31994882	C	T	31994882	2	4	165	1	0	0	0	0	0	0	0	1	2247	680	24	4		4	C4A	6	31994882	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	55036	31994882	139120185	472	89625											
NOTCH4	4855	broad.mit.edu	37	chr6	32164828	32164828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgagcgtccactgcagTttgtctgctacggagcagaa	13	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:32164828T>C	uc003obb.2	-	28	5213	c.5074A>G	c.(5074-5076)ACT>GCT	p.T1692A	GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Missense_Mutation_p.T101A|NOTCH4_uc003oba.2_Missense_Mutation_p.T352A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Missense_Mutation_p.T101A	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1692	Cytoplasmic (Potential).|ANK 2.				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TCCACTGCAGTTTGTCTGCTA	0.592													C	32164828	T	C	32164828	3	2	165	1	0	0	0	0	1	0	0	0	10551	1725	60	3	949	3	NOTCH4	6	32164828	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	169946	32164828	138950239	473	89626											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410443	32410443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggaaatcatgacaaagCgctccaactatactccgatc	6	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:32410443C>T	uc003obh.2	+	2	382	c.301C>T	c.(301-303)CGC>TGC	p.R101C	HLA-DRA_uc003obi.2_Missense_Mutation_p.R101C	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	101	Extracellular (Potential).|Alpha-1.				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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						CATGACAAAGCGCTCCAACTA	0.488									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				T	32410443	C	T	32410443	3	4	165	1	0	0	0	0	1	0	0	0	7207	768	27	1	307	1	HLA-DRA	6	32410443	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	245615	32410443	138704624	474	89627											
BRD2	6046	broad.mit.edu	37	chr6	32943277	32943277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttaataccatgttcacCaactgttacatttacaacaa	3	9	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:32943277C>T	uc003ocn.3	+	4	2151	c.450C>T	c.(448-450)ACC>ACT	p.T150T	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.T150T|BRD2_uc003ocp.3_Silent_p.T30T|BRD2_uc010juh.2_Silent_p.T150T	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	150	Bromo 1.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCATGTTCACCAACTGTTACA	0.353													T	32943277	C	T	32943277	2	4	165	1	0	0	0	0	0	0	0	1	1502	581	21	4		4	BRD2	6	32943277	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	532834	32943277	138171790	475	89628											
WDR46	9277	broad.mit.edu	37	chr6	33255222	33255222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctcaatgccctgattGtcatagatgtggagccagcg	13	9	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33255222G>A	uc003ods.2	-	8	833	c.789C>T	c.(787-789)GAC>GAT	p.D263D	WDR46_uc011dra.1_Silent_p.D209D|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	WD repeat domain 46 isoform 1	263	WD 2.										0						TGCCCTGATTGTCATAGATGT	0.552													A	33255222	G	A	33255222	2	1	165	1	0	0	0	0	0	0	0	1	17296	1368	48	4		4	WDR46	6	33255222	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	311945	33255222	137859845	476	89629											
RGL2	5863	broad.mit.edu	37	chr6	33263528	33263528	+	Frame_Shift_Del	DEL	A	A	-													tgagaggggatcaaattgagAaaaagttcctgcagggtaga					rs144150638		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33263527_33263527GA>G	uc003odv.3	-	6	1338	c.778_778TC>C	c.(778-780)ctcfs	p.L260fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Frame_Shift_Del_p.L178fs|RGL2_uc011drb.2_Frame_Shift_Del_p.L178fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	260	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						ATCAAATTGAGAAAAAGTTCC	0.527													-	33263528	A	-	33263528	7	5	165	1	0	1	0	1	0	0	0	0	13277	243	9	0	1604	0	RGL2	6	33263528	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	8306	33263528	137851539	477	89630											
PHF1	5252	broad.mit.edu	37	chr6	33380026	33380026	+	Splice_Site	DEL	C	C	-													ccatttcttttctggctaggCccccccaggatgcaatggcg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33380025_33380025GC>G	uc003oeh.3	+	2	221	c.-15_splice	c.e2-1		PHF1_uc011drh.2_Splice_Site|PHF1_uc003oei.3_Splice_Site|PHF1_uc010jux.3_Splice_Site	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.						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)				TTCTGGCTAGGCCCCCCCAGG	0.537													-	33380026	C	-	33380026	8	5	165	1	0	1	0	1	0	0	1	0	11820	753	26	0		0	PHF1	6	33380026	Splice_Site	DEL	C	TCGA-CG-4305-01A-01D-1158-08	116498	33380026	137735041	478	89631											
PHF1	5252	broad.mit.edu	37	chr6	33383747	33383747	+	Frame_Shift_Del	DEL	G	G	-													gtagtttgtctcctgggactGggggaggagtccgaggtggg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33383746_33383746TG>T	uc003oeh.3	+	14	1811	c.1575_1575TG>T	c.(1573-1575)actfs	p.T525fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_3'UTR|PHF1_uc010jux.3_Frame_Shift_Del_p.T325fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	525					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)				CTCCTGGGACTGGGGGAGGAG	0.617													-	33383747	G	-	33383747	7	5	165	1	0	1	0	1	0	0	0	0	11820	1348	47	0	1630	0	PHF1	6	33383747	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	3721	33383747	137731320	479	89632											
ITPR3	3710	broad.mit.edu	37	chr6	33658716	33658716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacctcatctaccgcgAggagacgctgttcaacgtca	9	13	4	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:33658716A>G	uc011drk.1	+	52	7274	c.7055A>G	c.(7054-7056)GAG>GGG	p.E2352G	ITPR3_uc003oey.2_Missense_Mutation_p.E439G	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2352	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						ATCTACCGCGAGGAGACGCTG	0.607													G	33658716	A	G	33658716	3	3	165	1	0	0	0	0	1	0	0	0	7922	304	11	3	7261	3	ITPR3	6	33658716	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	274969	33658716	137456351	480	89633											
SRPK1	6732	broad.mit.edu	37	chr6	35825051	35825051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattaccatgcatgccgtgCtccaaatgtcagcaggggta	10	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:35825051C>T	uc003olj.2	-	13	1730	c.1607G>A	c.(1606-1608)AGC>AAC	p.S536N	SRPK1_uc011dtg.1_Missense_Mutation_p.S520N|SRPK1_uc003olh.2_Missense_Mutation_p.S429N|SRPK1_uc003oli.2_Missense_Mutation_p.S429N	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1	536	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						GCATGCCGTGCTCCAAATGTC	0.398													T	35825051	C	T	35825051	3	4	165	1	0	0	0	0	1	0	0	0	15158	797	28	2	376	2	SRPK1	6	35825051	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2166335	35825051	135290016	481	89634											
PIM1	5292	broad.mit.edu	37	chr6	37139205	37139205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacctcaatcgcggcgagcTcaagctcatcgacttcgggt	11	14	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:37139205T>C	uc003onk.2	+	4	975	c.545T>C	c.(544-546)CTC>CCC	p.L182P	PIM1_uc011dtw.1_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	273	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 binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGCGGCGAGCTCAAGCTCATC	0.642			T	BCL6	NHL								C	37139205	T	C	37139205	3	2	165	1	0	0	0	0	1	0	0	0	11927	1551	54	3	559	3	PIM1	6	37139205	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1314154	37139205	133975862	482	89635											
FTSJD2	23070	broad.mit.edu	37	chr6	37445388	37445388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggaggtgtacagacTggaagagatggagaagattt	17	2	0	5			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:37445388T>C	uc003ons.2	+	21	2379	c.2126T>C	c.(2125-2127)CTG>CCG	p.L709P		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	709					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GTGTACAGACTGGAAGAGATG	0.557													C	37445388	T	C	37445388	3	2	165	1	0	0	0	0	1	0	0	0	6091	1580	55	3	2204	3	FTSJD2	6	37445388	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	306183	37445388	133669679	483	89636											
GLP1R	2740	broad.mit.edu	37	chr6	39041530	39041530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggatcttcaggctctacGtgagcataggctggggtaag	14	7	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:39041530G>A	uc003ooj.3	+	7	868	c.808G>A	c.(808-810)GTG>ATG	p.V270M	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	270	Helical; Name=4; (Potential).				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			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CAGGCTCTACGTGAGCATAGG	0.567													A	39041530	G	A	39041530	3	1	165	1	0	0	0	0	1	0	0	0	6452	1145	40	1	834	1	GLP1R	6	39041530	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1596142	39041530	132073537	484	89637											
FOXP4	116113	broad.mit.edu	37	chr6	41533642	41533642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcagggaagtgaccacGggtgcagacagcaatggtga	17	8	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:41533642G>A	uc003oql.2	+	2	602	c.144G>A	c.(142-144)ACG>ACA	p.T48T	FOXP4_uc003oqm.2_Silent_p.T48T|FOXP4_uc003oqn.2_Silent_p.T48T	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	48					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					AAGTGACCACGGGTGCAGACA	0.637													A	41533642	G	A	41533642	2	1	165	1	0	0	0	0	0	0	0	1	6029	1103	39	1		1	FOXP4	6	41533642	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2492112	41533642	129581425	485	89638											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753259	41753259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagttgctgcgcccgcGctgcccggcttgtgaccagg	15	14	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:41753259G>A	uc011duf.1	+	6	811	c.563G>A	c.(562-564)CGC>CAC	p.R188H	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	148	LIM zinc-binding 2.					nucleus	zinc ion binding				0	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)			CTGCGCCCGCGCTGCCCGGCT	0.612													A	41753259	G	A	41753259	3	1	165	1	0	0	0	0	1	0	0	0	12489	1087	38	1	577	1	PRICKLE4	6	41753259	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	219617	41753259	129361808	486	89639											
TRERF1	55809	broad.mit.edu	37	chr6	42231260	42231260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaggcggaggcggaggcGgcagtggtggctggggctga	25	7	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:42231260G>A	uc003osd.2	-	8	2245	c.1682C>T	c.(1681-1683)CCG>CTG	p.P561L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.P561L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	561	Pro-rich.|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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			aggcggaggcggcagtggtgg	0.378													A	42231260	G	A	42231260	3	1	165	1	0	0	0	0	1	0	0	0	16472	1116	39	1	1964	1	TRERF1	6	42231260	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	478001	42231260	128883807	487	89640											
GNMT	27232	broad.mit.edu	37	chr6	42930849	42930849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgctgaaaaacattgCgagcatggtgcgggcagggg	18	8	0	1	rs139815680		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:42930849C>T	uc003otd.2	+	4	497	c.491C>T	c.(490-492)GCG>GTG	p.A164V	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	164					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|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;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AAAAACATTGCGAGCATGGTG	0.597													T	42930849	C	T	42930849	3	4	165	1	0	0	0	0	1	0	0	0	6540	768	27	1	505	1	GNMT	6	42930849	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	699589	42930849	128184218	488	89641											
SLC22A7	10864	broad.mit.edu	37	chr6	43271811	43271811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgactgcactggtgggccGgctggggggctctttggccc	18	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:43271811G>A	uc003out.2	+	10	1520	c.1421G>A	c.(1420-1422)CGG>CAG	p.R474Q	SLC22A7_uc003ous.2_Missense_Mutation_p.R472Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	474	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTGGTGGGCCGGCTGGGGGGC	0.627													A	43271811	G	A	43271811	3	1	165	1	0	0	0	0	1	0	0	0	14459	1116	39	1	1455	1	SLC22A7	6	43271811	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	340962	43271811	127843256	489	89642											
CD2AP	23607	broad.mit.edu	37	chr6	47563667	47563667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccacccaagaaacctacTccacctaccaaagccagtaa	4	17	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:47563667T>C	uc003oyw.2	+	12	1635	c.1179T>C	c.(1177-1179)ACT>ACC	p.T393T		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	393	Pro-rich.|SH3-binding (Potential).				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			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGAAACCTACTCCACCTACCA	0.413													C	47563667	T	C	47563667	2	2	165	1	0	0	0	0	0	0	0	1	2994	1538	54	3		3	CD2AP	6	47563667	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	4291856	47563667	123551400	490	89643											
HMGCLL1	54511	broad.mit.edu	37	chr6	55300543	55300543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcaccagcttccatcaCtttgtatagattcacaccct	4	13	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:55300543C>T	uc003pcn.2	-	10	1189	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	HMGCLL1_uc003pco.2_Missense_Mutation_p.V314M|HMGCLL1_uc010jzx.2_Missense_Mutation_p.V215M|HMGCLL1_uc011dxc.1_Missense_Mutation_p.V282M|HMGCLL1_uc011dxd.1_Missense_Mutation_p.V211M|HMGCLL1_uc011dxe.1_Missense_Mutation_p.V148M	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	344							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCTTCCATCACTTTGTATAGA	0.358													T	55300543	C	T	55300543	3	4	165	1	0	0	0	0	1	0	0	0	7230	565	20	4	86	4	HMGCLL1	6	55300543	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7736876	55300543	115814524	491	89644											
BMP5	653	broad.mit.edu	37	chr6	55620338	55620338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattatttaatattagtggCagccacatgagcgtactacc	7	8	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:55620338C>A	uc003pcq.2	-	7	2070	c.1358G>T	c.(1357-1359)TGC>TTC	p.C453F	BMP5_uc011dxf.1_Missense_Mutation_p.C416F	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	453					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATATTAGTGGCAGCCACATGA	0.328													A	55620338	C	A	55620338	3	1	165	1	0	0	0	0	1	0	0	0	1463	710	25	5	10	5	BMP5	6	55620338	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	319795	55620338	115494729	492	89645											
DST	667	broad.mit.edu	37	chr6	56506814	56506814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatcaattacatgctggCgtaaaaggttctcacattca	7	9	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:56506814C>T	uc003pdf.2	-	16	1887	c.1859G>A	c.(1858-1860)CGC>CAC	p.R620H	DST_uc003pcz.3_Missense_Mutation_p.R442H|DST_uc011dxj.1_Missense_Mutation_p.R471H|DST_uc011dxk.1_Missense_Mutation_p.R482H|DST_uc011dxl.1_Missense_Mutation_p.R471H|DST_uc003pcy.3_Missense_Mutation_p.R116H|DST_uc003pdb.2_Missense_Mutation_p.R116H|DST_uc003pdc.3_Missense_Mutation_p.R116H|DST_uc003pdd.3_Missense_Mutation_p.R116H|DST_uc003pde.2_Missense_Mutation_p.R558H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	442					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACATGCTGGCGTAAAAGGTT	0.358													T	56506814	C	T	56506814	3	4	165	1	0	0	0	0	1	0	0	0	4783	768	27	1	20136	1	DST	6	56506814	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	886476	56506814	114608253	493	89646											
PHF3	23469	broad.mit.edu	37	chr6	64422545	64422545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctggcctgtcacacaaCaaggagcacttaacagaaca	8	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:64422545C>T	uc003pep.1	+	15	5087	c.5061C>T	c.(5059-5061)AAC>AAT	p.N1687N	PHF3_uc003pen.2_Silent_p.N1599N|PHF3_uc011dxs.1_Silent_p.N956N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1687					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			TGTCACACAACAAGGAGCACT	0.428													T	64422545	C	T	64422545	2	4	165	1	0	0	0	0	0	0	0	1	11836	477	17	4		4	PHF3	6	64422545	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7915731	64422545	106692522	494	89647											
EYS	346007	broad.mit.edu	37	chr6	66205020	66205020	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatttctggaaattgaagaGatggttcagaagaaattaca	9	3	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:66205020G>A	uc011dxu.1	-	4	822	c.284C>T	c.(283-285)TCT>TTT	p.S95F	EYS_uc003peq.2_Missense_Mutation_p.S95F|EYS_uc003per.1_Missense_Mutation_p.S95F|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	95					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AAATTGAAGAGATGGTTCAGA	0.363													A	66205020	G	A	66205020	3	1	165	1	0	0	0	0	1	0	0	0	5332	942	33	4	9272	4	EYS	6	66205020	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1782475	66205020	104910047	495	89648											
COL12A1	1303	broad.mit.edu	37	chr6	75893741	75893741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgctgtcggcttcctgCagtcattggtgtgaggatga	15	8	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:75893741C>T	uc003phs.2	-	9	1283	c.1117G>A	c.(1117-1119)GCA>ACA	p.A373T	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.A31T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	373	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CGGCTTCCTGCAGTCATTGGT	0.493													T	75893741	C	T	75893741	3	4	165	1	0	0	0	0	1	0	0	0	3669	710	25	2	8306	2	COL12A1	6	75893741	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	9688721	75893741	95221326	496	89649											
MYO6	4646	broad.mit.edu	37	chr6	76540214	76540214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaagcaataaagtcaTatcaaggaaaatctcttggg	8	7	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:76540214T>C	uc003pih.1	+	5	622	c.343T>C	c.(343-345)TAT>CAT	p.Y115H	MYO6_uc003pig.1_Missense_Mutation_p.Y115H|MYO6_uc003pii.1_Missense_Mutation_p.Y115H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	115	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			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AATAAAGTCATATCAAGGAAA	0.308													C	76540214	T	C	76540214	3	2	165	1	0	0	0	0	1	0	0	0	10081	1406	49	3	357	3	MYO6	6	76540214	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	646473	76540214	94574853	497	89650											
IMPG1	3617	broad.mit.edu	37	chr6	76660365	76660365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccatgttagcaacacGcagactgaagaacactacca	9	11	0	3	rs142123216		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:76660365G>A	uc003pik.1	-	13	1868	c.1738C>T	c.(1738-1740)CGT>TGT	p.R580C		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	580	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTAGCAACACGCAGACTGAAG	0.517													A	76660365	G	A	76660365	3	1	165	1	0	0	0	0	1	0	0	0	7728	1087	38	1	675	1	IMPG1	6	76660365	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	120151	76660365	94454702	498	89651											
TBX18	9096	broad.mit.edu	37	chr6	85446535	85446535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcaacatctgccgatcCgtcatggtcccactcggtga	13	13	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:85446535C>T	uc003pkl.1	-	8	1692	c.1692G>A	c.(1690-1692)ACG>ACA	p.T564T	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		TCTGCCGATCCGTCATGGTCC	0.522													T	85446535	C	T	85446535	2	4	165	1	0	0	0	0	0	0	0	1	15650	639	23	1		1	TBX18	6	85446535	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8786170	85446535	85668532	499	89652											
MDN1	23195	broad.mit.edu	37	chr6	90402760	90402760	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgacgtagtggtggAtctcctgaaccagggactcg	15	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:90402760A>T	uc003pnn.1	-	63	10105	c.9989T>A	c.(9988-9990)ATC>AAC	p.I3330N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3330					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		GTAGTGGTGGATCTCCTGAAC	0.572													T	90402760	A	T	90402760	3	4	165	1	0	0	0	0	1	0	0	0	9415	333	12	5	6961	5	MDN1	6	90402760	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4956225	90402760	80712307	500	89653											
FUT9	10690	broad.mit.edu	37	chr6	96651915	96651915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagattataactctcCcagtgagctagcaaagtatc	9	8	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:96651915C>A	uc003pop.3	+	3	1225	c.884C>A	c.(883-885)CCC>CAC	p.P295H		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	295	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		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)		TATAACTCTCCCAGTGAGCTA	0.393													A	96651915	C	A	96651915	3	1	165	1	0	0	0	0	1	0	0	0	6111	623	22	5	886	5	FUT9	6	96651915	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6249155	96651915	74463152	501	89654											
KLHL32	114792	broad.mit.edu	37	chr6	97562222	97562222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgctgggtgccatggaGgaatacctctatgcagttgg	14	7	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:97562222G>A	uc010kcm.1	+	7	1663	c.1191G>A	c.(1189-1191)GAG>GAA	p.E397E	KLHL32_uc003poy.2_Silent_p.E397E|KLHL32_uc011ead.1_Silent_p.E361E|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.E328E|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	397	Kelch 2.									ovary(3)|skin(1)	4		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)		GTGCCATGGAGGAATACCTCT	0.517													A	97562222	G	A	97562222	2	1	165	1	0	0	0	0	0	0	0	1	8386	991	35	4		4	KLHL32	6	97562222	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	910307	97562222	73552845	502	89655											
POU3F2	5454	broad.mit.edu	37	chr6	99283635	99283635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgtggggctggctctgGgcaccctgtatggcaacgtg	17	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:99283635G>A	uc003ppe.2	+	1	1056	c.886G>A	c.(886-888)GGC>AGC	p.G296S		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	296	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		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)		GCTGGCTCTGGGCACCCTGTA	0.582													A	99283635	G	A	99283635	3	1	165	1	0	0	0	0	1	0	0	0	12275	1232	43	4	888	4	POU3F2	6	99283635	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1721413	99283635	71831432	503	89656											
BVES	11149	broad.mit.edu	37	chr6	105577343	105577343	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattatatccaaggcacatcGgtagagagtggcccagacga	11	10	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:105577343G>A	uc003pqw.2	-	3	419	c.262C>T	c.(262-264)CGA>TGA	p.R88*	BVES_uc003pqx.2_Nonsense_Mutation_p.R88*|BVES_uc003pqy.2_Nonsense_Mutation_p.R88*	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	88	Helical; (Potential).				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				0		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)				AAGGCACATCGGTAGAGAGTG	0.393													A	105577343	G	A	105577343	4	1	165	1	0	0	0	0	0	1	0	0	1575	1124	39	1	844	1	BVES	6	105577343	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	6293708	105577343	65537724	504	89657											
ARMC2	84071	broad.mit.edu	37	chr6	109285402	109285402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacaggttcatgatggcGctgctggatgctcagcatca	12	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:109285402G>A	uc003pss.3	+	16	2346	c.2172G>A	c.(2170-2172)GCG>GCA	p.A724A	ARMC2_uc011eao.1_Silent_p.A559A	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	724	ARM 11.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATGATGGCGCTGCTGGATG	0.473													A	109285402	G	A	109285402	2	1	165	1	0	0	0	0	0	0	0	1	951	1074	38	1		1	ARMC2	6	109285402	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3708059	109285402	61829665	505	89658											
ZBTB24	9841	broad.mit.edu	37	chr6	109787338	109787338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctgaaagaattaaatTctgcagttgctctggctgct	10	7	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:109787338T>C	uc003ptl.1	-	7	1978	c.1810A>G	c.(1810-1812)AAT>GAT	p.N604D	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.N548D|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		AGAATTAAATTCTGCAGTTGC	0.493													C	109787338	T	C	109787338	3	2	165	1	0	0	0	0	1	0	0	0	17528	1783	62	3	287	3	ZBTB24	6	109787338	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	501936	109787338	61327729	506	89659											
AKD1	221264	broad.mit.edu	37	chr6	109815261	109815261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgggctttaagcatcccGctgcattcattgctttaatt	7	10	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:109815261G>A	uc003ptn.2	-	40	5533	c.5456C>T	c.(5455-5457)GCG>GTG	p.A1819V	AKD1_uc011eas.1_Missense_Mutation_p.A204V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1819					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TAAGCATCCCGCTGCATTCAT	0.368													A	109815261	G	A	109815261	3	1	165	1	0	0	0	0	1	0	0	0	460	1087	38	1	287	1	AKD1	6	109815261	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	27923	109815261	61299806	507	89660											
REV3L	5980	broad.mit.edu	37	chr6	111689017	111689018	+	Frame_Shift_Ins	INS	-	-	T													ttgcaaggcataatcacaatINSttttttatcttcaaccatct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:111689016_111689017A>AT	uc003puy.4	-	13	6315_6316	c.5974_5975T>AT	c.(5974-5976)attfs	p.I1992fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.I1914fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.I1914fs|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1992					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)		CATAATCACAATTTTTTTATCT	0.446								DNA polymerases (catalytic subunits)					T	111689018	-	T	111689017	7	5	165	1	0	1	1	0	0	0	0	0	13240	1493	52	0	3494	0	REV3L	6	111689017	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	1873756	111689017	59426050	508	89661											
DSE	29940	broad.mit.edu	37	chr6	116747964	116747964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgtatggctttgctcaCgggaagcctagtcctgatga	11	10	1	2	rs112379267	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:116747964C>T	uc003pws.2	+	3	838	c.644C>T	c.(643-645)ACG>ATG	p.T215M	DSE_uc011ebf.1_Missense_Mutation_p.T215M|DSE_uc011ebg.1_Missense_Mutation_p.T234M|DSE_uc003pwt.2_Missense_Mutation_p.T215M	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	215					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GCTTTGCTCACGGGAAGCCTA	0.488													T	116747964	C	T	116747964	3	4	165	1	0	0	0	0	1	0	0	0	4774	536	19	1	650	1	DSE	6	116747964	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5058947	116747964	54367103	509	89662											
RSPH4A	345895	broad.mit.edu	37	chr6	116938281	116938281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtgtggacgaagggaCgtgagctataacaacgctaa	12	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:116938281C>T	uc003pxe.2	+	1	640	c.495C>T	c.(493-495)GAC>GAT	p.D165D	RSPH4A_uc010kee.2_Silent_p.D165D	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	165					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						GACGAAGGGACGTGAGCTATA	0.478									Kartagener_syndrome				T	116938281	C	T	116938281	2	4	165	1	0	0	0	0	0	0	0	1	13706	535	19	1		1	RSPH4A	6	116938281	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	190317	116938281	54176786	510	89663											
NCOA7	135112	broad.mit.edu	37	chr6	126210800	126210800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactaagaacaaagaagggCcacaggtatctgaaaatttg	10	6	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:126210800C>A	uc010kes.2	+	11	2049	c.1600C>A	c.(1600-1602)CCA>ACA	p.P534T	NCOA7_uc003qae.3_Missense_Mutation_p.P534T|NCOA7_uc003qah.2_Missense_Mutation_p.P523T|NCOA7_uc003qai.2_Missense_Mutation_p.P534T|NCOA7_uc010ket.2_Missense_Mutation_p.P419T	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	534					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAAAGAAGGGCCACAGGTATC	0.378													A	126210800	C	A	126210800	3	1	165	1	0	0	0	0	1	0	0	0	10234	739	26	5	1630	5	NCOA7	6	126210800	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	9272519	126210800	44904267	511	89664											
TRMT11	60487	broad.mit.edu	37	chr6	126319758	126319758	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgcaacatgtattttcTgttttggaggattatggttt	9	5	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:126319758T>G	uc003qam.2	+	6	571	c.450T>G	c.(448-450)TCT>TCG	p.S150S	TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.S150S	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11	150					tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)		ATGTATTTTCTGTTTTGGAGG	0.338													G	126319758	T	G	126319758	2	3	165	1	0	0	0	0	0	0	0	1	16559	1567	55	5		5	TRMT11	6	126319758	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	108958	126319758	44795309	512	89665											
C6orf174	387104	broad.mit.edu	37	chr6	127797085	127797085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggcctcggtcttggCgttgtcgtggtgccgcgcgc	17	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:127797085C>T	uc003qbd.2	-	6	2951	c.2086G>A	c.(2086-2088)GCC>ACC	p.A696T	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	696	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TCGGTCTTGGCGTTGTCGTGG	0.647													T	127797085	C	T	127797085	3	4	165	1	0	0	0	0	1	0	0	0	2345	768	27	1	765	1	C6orf174	6	127797085	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1477327	127797085	43317982	513	89666											
MED23	9439	broad.mit.edu	37	chr6	131929129	131929130	+	Frame_Shift_Ins	INS	-	-	T													gagaaaatcagctagtgcatINSttttctgaatacttccagaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:131929128_131929129A>AT	uc003qcs.1	-	11	1334_1335	c.1160_1161T>AT	c.(1159-1161)aatfs	p.N387fs	MED23_uc003qcq.3_Frame_Shift_Ins_p.N393fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Ins_p.N393fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	387					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.K386fs*6(2)|p.K392fs*6(1)		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)		CAGCTAGTGCATTTTTCTGAAT	0.376													T	131929130	-	T	131929129	7	5	165	1	0	1	1	0	0	0	0	0	9441	1493	52	0	3025	0	MED23	6	131929129	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	4132044	131929129	39185938	514	89667											
MOXD1	26002	broad.mit.edu	37	chr6	132645229	132645229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctcagtccagaattatcTattaagcctagaacaaaagc	5	10	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:132645229T>C	uc003qdf.2	-	7	1053	c.954A>G	c.(952-954)ATA>ATG	p.I318M	MOXD1_uc003qde.2_Missense_Mutation_p.I250M	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	318	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348													C	132645229	T	C	132645229	3	2	165	1	0	0	0	0	1	0	0	0	9720	1512	53	3	911	3	MOXD1	6	132645229	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	716100	132645229	38469838	515	89668											
SLC35D3	340146	broad.mit.edu	37	chr6	137243812	137243812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccttcgcgggggtcgcGgtgctctccacgctgcagtc	14	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:137243812G>A	uc003qhe.2	+	1	411	c.246G>A	c.(244-246)GCG>GCA	p.A82A		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	82	Helical; (Potential).				carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CGGGGGTCGCGGTGCTCTCCA	0.721													A	137243812	G	A	137243812	2	1	165	1	0	0	0	0	0	0	0	1	14583	1103	39	1		1	SLC35D3	6	137243812	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4598583	137243812	33871255	516	89669											
AIG1	51390	broad.mit.edu	37	chr6	143605337	143605337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggacttaccgccatatgtAccttctctgttggctatata	8	11	1	0	rs114392595	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:143605337A>G	uc003qjh.2	+	4	530	c.490A>G	c.(490-492)ACC>GCC	p.T164A	AIG1_uc003qjf.2_Missense_Mutation_p.T154A|AIG1_uc003qji.2_Missense_Mutation_p.T102A	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	androgen-induced 1	164						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CGCCATATGTACCTTCTCTGT	0.428													G	143605337	A	G	143605337	3	3	165	1	0	0	0	0	1	0	0	0	429	391	14	3	504	3	AIG1	6	143605337	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	6361525	143605337	27509730	517	89670											
STX11	8676	broad.mit.edu	37	chr6	144508353	144508353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaacttgctggccgacGtgaagggcgcgcgggccgcc	17	14	0	2	rs141499372	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:144508353G>A	uc003qks.3	+	2	781	c.589G>A	c.(589-591)GTG>ATG	p.V197M		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	197					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGCCGACGTGAAGGGCGC	0.632									Familial_Hemophagocytic_Lymphohistiocytosis				A	144508353	G	A	144508353	3	1	165	1	0	0	0	0	1	0	0	0	15336	1145	40	1	591	1	STX11	6	144508353	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	903016	144508353	26606714	518	89671											
STXBP5	134957	broad.mit.edu	37	chr6	147612300	147612300	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggaattcaaaacgacTagatctgggtaagattttac	10	5	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:147612300T>C	uc003qlz.2	+	9	1070	c.909T>C	c.(907-909)ACT>ACC	p.T303T	STXBP5_uc010khz.1_Silent_p.T303T|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	303	WD 6.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCAAAACGACTAGATCTGGGT	0.333													C	147612300	T	C	147612300	2	2	165	1	0	0	0	0	0	0	0	1	15355	1509	53	3		3	STXBP5	6	147612300	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3103947	147612300	23502767	519	89672											
PLEKHG1	57480	broad.mit.edu	37	chr6	151130286	151130286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggccagacctgaccAgctacggggaactggtgctt	16	10	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:151130286A>G	uc003qny.1	+	9	1270	c.958A>G	c.(958-960)AGC>GGC	p.S320G	PLEKHG1_uc011eel.1_Missense_Mutation_p.S360G|PLEKHG1_uc011eem.1_Missense_Mutation_p.S379G|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S320G	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	320	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGACCTGACCAGCTACGGGGA	0.557													G	151130286	A	G	151130286	3	3	165	1	0	0	0	0	1	0	0	0	12068	188	7	3	984	3	PLEKHG1	6	151130286	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	3517986	151130286	19984781	520	89673											
SYNE1	23345	broad.mit.edu	37	chr6	152570298	152570298	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaggcagctataaatacctCtatttgttctgctacgggct	8	9	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:152570298C>G	uc010kiw.2	-	105	20172	c.19570G>C	c.(19570-19572)GAG>CAG	p.E6524Q	SYNE1_uc010kiv.2_Missense_Mutation_p.E1048Q|SYNE1_uc003qos.3_Missense_Mutation_p.E1048Q|SYNE1_uc003qot.3_Missense_Mutation_p.E6453Q|SYNE1_uc003qou.3_Missense_Mutation_p.E6524Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6524	Potential.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAAATACCTCTATTTGTTCT	0.358										HNSCC(10;0.0054)			G	152570298	C	G	152570298	3	3	165	1	0	0	0	0	1	0	0	0	15442	922	32	5	7064	5	SYNE1	6	152570298	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1440012	152570298	18544769	521	89674											
SYNE1	23345	broad.mit.edu	37	chr6	152765568	152765568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgaagaagtaactgcTgtgcttcaaacagattttca	10	6	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:152765568T>G	uc010kiw.2	-	30	4417	c.3815A>C	c.(3814-3816)CAG>CCG	p.Q1272P	SYNE1_uc003qot.3_Missense_Mutation_p.Q1279P|SYNE1_uc003qou.3_Missense_Mutation_p.Q1272P|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1255P|SYNE1_uc003qow.2_Missense_Mutation_p.Q567P|SYNE1_uc003qox.1_Missense_Mutation_p.Q788P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1272	Potential.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTAACTGCTGTGCTTCAAA	0.353										HNSCC(10;0.0054)			G	152765568	T	G	152765568	3	3	165	1	0	0	0	0	1	0	0	0	15442	1580	55	5	23119	5	SYNE1	6	152765568	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	195270	152765568	18349499	522	89675											
PARK2	5071	broad.mit.edu	37	chr6	161969941	161969941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctctggtcaggctccGgcagcagccccgctccacag	10	18	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:161969941G>A	uc003qtx.3	-	9	1162	c.1028C>T	c.(1027-1029)CCG>CTG	p.P343L	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.P152L|PARK2_uc003qtw.3_Missense_Mutation_p.P152L|PARK2_uc003qty.3_Missense_Mutation_p.P315L|PARK2_uc003qtz.3_Missense_Mutation_p.P194L|PARK2_uc010kke.1_Missense_Mutation_p.P362L|PARK2_uc011egf.1_Missense_Mutation_p.P17L	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	343	IBR-type.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCAGGCTCCGGCAGCAGCCC	0.637													A	161969941	G	A	161969941	3	1	165	1	0	0	0	0	1	0	0	0	11449	1116	39	1	385	1	PARK2	6	161969941	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	9204373	161969941	9145126	523	89676											
PDE10A	10846	broad.mit.edu	37	chr6	165832261	165832261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccaggttttttgcaTatatctaaagacaaatgaca	5	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr6:165832261T>C	uc003qun.2	-	12	1071	c.830A>G	c.(829-831)TAT>TGT	p.Y277C	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.Y207C|PDE10A_uc003quo.2_Missense_Mutation_p.Y287C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	277	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			ovary(3)|skin(2)	5		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)	GTTTTTTGCATATATCTAAAG	0.353													C	165832261	T	C	165832261	3	2	165	1	0	0	0	0	1	0	0	0	11630	1406	49	3	1557	3	PDE10A	6	165832261	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3862320	165832261	5282806	524	89677											
MAD1L1	8379	broad.mit.edu	37	chr7	2255914	2255914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcagggacagcttctgCtccagatcctgatggaggcc	12	12	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:2255914C>T	uc003slh.1	-	8	953	c.687G>A	c.(685-687)GAG>GAA	p.E229E	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.E229E|MAD1L1_uc003slg.1_Silent_p.E229E|MAD1L1_uc010ksh.1_Silent_p.E229E|MAD1L1_uc003sli.1_Silent_p.E137E|MAD1L1_uc010ksi.1_Silent_p.E182E|MAD1L1_uc010ksj.2_Silent_p.E229E	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	229	Potential.				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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACAGCTTCTGCTCCAGATCCT	0.343													T	2255914	C	T	2255914	2	4	165	1	0	0	0	0	0	0	0	1	9147	796	28	2		2	MAD1L1	7	2255914	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08		2255914	156882749	525	89678											
SDK1	221935	broad.mit.edu	37	chr7	4215451	4215451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcagctccacatcgacgAtgtgtgaactaacacgtaag	9	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:4215451A>C	uc003smx.2	+	34	5120	c.4981A>C	c.(4981-4983)ATG>CTG	p.M1661L	SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Missense_Mutation_p.M148L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1661	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CACATCGACGATGTGTGAACT	0.577													C	4215451	A	C	4215451	3	2	165	1	0	0	0	0	1	0	0	0	13968	333	12	5	5115	5	SDK1	7	4215451	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1959537	4215451	154923212	526	89679											
KIAA0415	9907	broad.mit.edu	37	chr7	4823986	4823986	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcggccccgagggcccGggcaccctggacacaggtgt	15	16	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:4823986G>T	uc003sne.2	+	6	857	c.774G>T	c.(772-774)CCG>CCT	p.P258P	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	258					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CCGAGGGCCCGGGCACCCTGG	0.697													T	4823986	G	T	4823986	2	4	165	1	0	0	0	0	0	0	0	1	8175	1103	39	5		5	KIAA0415	7	4823986	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	608535	4823986	154314677	527	89680											
RADIL	55698	broad.mit.edu	37	chr7	4917428	4917428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgccggcttggcccaccaCgtcacacagcacgtactggc	10	17	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:4917428C>T	uc003snj.1	-	2	516	c.343G>A	c.(343-345)GTG>ATG	p.V115M	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	115	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGGCCCACCACGTCACACAGC	0.672													T	4917428	C	T	4917428	3	4	165	1	0	0	0	0	1	0	0	0	12997	536	19	1	2940	1	RADIL	7	4917428	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	93442	4917428	154221235	528	89681											
DAGLB	221955	broad.mit.edu	37	chr7	6456270	6456270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcacctccacagccccCggggtggggagaaggcgtag	16	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:6456270C>T	uc003sqa.2	-	11	1585	c.1415G>A	c.(1414-1416)CGG>CAG	p.R472Q	DAGLB_uc003spy.2_Missense_Mutation_p.R18Q|DAGLB_uc003spz.2_Missense_Mutation_p.R169Q|DAGLB_uc011jwt.1_Missense_Mutation_p.R286Q|DAGLB_uc011jwu.1_Missense_Mutation_p.R343Q|DAGLB_uc003sqb.2_Missense_Mutation_p.R191Q|DAGLB_uc003sqc.2_Missense_Mutation_p.R191Q|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.R431Q|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	472	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R472R(1)		ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCACAGCCCCCGGGGTGGGGA	0.552													T	6456270	C	T	6456270	3	4	165	1	0	0	0	0	1	0	0	0	4227	652	23	1	623	1	DAGLB	7	6456270	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1538842	6456270	152682393	529	89682											
STK31	56164	broad.mit.edu	37	chr7	23826129	23826129	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctttctttggtacaagggCtattctgtggatgttgacac	10	8	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:23826129C>A	uc003sws.3	+	19	2344	c.2277C>A	c.(2275-2277)GGC>GGA	p.G759G	STK31_uc003swt.3_Silent_p.G736G|STK31_uc011jze.1_Silent_p.G759G|STK31_uc010kuq.2_Silent_p.G736G|STK31_uc003swv.1_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	759	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						GGTACAAGGGCTATTCTGTGG	0.368													A	23826129	C	A	23826129	2	1	165	1	0	0	0	0	0	0	0	1	15295	784	28	5		5	STK31	7	23826129	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	17369859	23826129	135312534	530	89683											
OSBPL3	26031	broad.mit.edu	37	chr7	24849497	24849497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgccatttcccaaacagcCgatgaaccgcttttccactc	5	16	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:24849497C>T	uc003sxf.2	-	20	2651	c.2246G>A	c.(2245-2247)CGG>CAG	p.R749Q	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.R713Q|OSBPL3_uc003sxh.2_Missense_Mutation_p.R718Q|OSBPL3_uc003sxi.2_Missense_Mutation_p.R682Q	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	749					lipid transport		lipid binding|protein binding			skin(1)	1						CCCAAACAGCCGATGAACCGC	0.502													T	24849497	C	T	24849497	3	4	165	1	0	0	0	0	1	0	0	0	11279	652	23	1	433	1	OSBPL3	7	24849497	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1023368	24849497	134289166	531	89684											
HOXA2	3199	broad.mit.edu	37	chr7	27140704	27140705	+	Frame_Shift_Del	DEL	GA	GA	-													tccattgggagcctgctgctGagagagggcattttgctgaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:27140703_27140704TGA>T	uc003syh.3	-	1	1047_1048	c.772_773TCA>A	c.(772-774)cagfs	p.Q258fs	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	258						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AGCCTGCTGCTGAGAGAGGGCA	0.515													-	27140705	GA	-	27140704	7	5	165	1	0	1	0	1	0	0	0	0	7292	1299	45	0	362	0	HOXA2	7	27140704	Frame_Shift_Del	DEL	GA	TCGA-CG-4305-01A-01D-1158-08	2291207	27140704	131997959	532	89685											
NOD1	10392	broad.mit.edu	37	chr7	30496526	30496526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttccatctcactgtggccCtgctcttccatagttaaagt	6	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:30496526C>A	uc003tav.2	-	4	535	c.12G>T	c.(10-12)CAG>CAT	p.Q4H	NOD1_uc010kvs.2_Missense_Mutation_p.Q4H|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	4					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			ovary(1)|skin(1)	2						CACTGTGGCCCTGCTCTTCCA	0.488													A	30496526	C	A	30496526	3	1	165	1	0	0	0	0	1	0	0	0	10516	680	24	5	2893	5	NOD1	7	30496526	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3355822	30496526	128642137	533	89686											
PDE1C	5137	broad.mit.edu	37	chr7	32209466	32209467	+	Frame_Shift_Ins	INS	-	-	G													atcagctaggatctcctctgINSggggtcgagggtcatggaca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:32209465_32209466T>TG	uc003tco.2	-	2	275_276	c.239_240A>CA	c.(238-240)ccafs	p.P80fs		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					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)			GGATCTCCTCTGGGGGTCGAGG	0.5													G	32209467	-	G	32209466	7	5	165	1	0	1	1	0	0	0	0	0	11635	1363	47	0		0	PDE1C	7	32209466	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	1712940	32209466	126929197	534	89687											
PGAM2	5224	broad.mit.edu	37	chr7	44105067	44105067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgaaccagccacagaaaCggttctcctggttccatgtg	9	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:44105067C>T	uc003tjs.2	-	1	97	c.62G>A	c.(61-63)CGT>CAT	p.R21H		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	21					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						GCCACAGAAACGGTTCTCCTG	0.612													T	44105067	C	T	44105067	3	4	165	1	0	0	0	0	1	0	0	0	11774	536	19	1	711	1	PGAM2	7	44105067	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	11895601	44105067	115033596	535	89688											
POLM	27434	broad.mit.edu	37	chr7	44112896	44112896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacaggcaggctcaggcGtttctctgctctggaggaag	15	10	3	0	rs146318307	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:44112896G>A	uc003tjt.2	-	11	1571	c.1479C>T	c.(1477-1479)AAC>AAT	p.N493N	POLM_uc003tjw.1_Missense_Mutation_p.T130M|POLM_uc003tju.2_Silent_p.N456N|POLM_uc003tjx.2_Missense_Mutation_p.T431M|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.T161M	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	493					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						AGGCTCAGGCGTTTCTCTGCT	0.562								DNA_polymerases_(catalytic_subunits)					A	44112896	G	A	44112896	2	1	165	1	0	0	0	0	0	0	0	1	12206	1136	40	1		1	POLM	7	44112896	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	7829	44112896	115025767	536	89689											
AEBP1	165	broad.mit.edu	37	chr7	44149841	44149841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgactactatgatggtgcGtggtgtgccgaggacgatgc	16	8	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:44149841G>A	uc003tkb.2	+	11	1601	c.1296G>A	c.(1294-1296)GCG>GCA	p.A432A	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	432	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (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				0						ATGATGGTGCGTGGTGTGCCG	0.627													A	44149841	G	A	44149841	2	1	165	1	0	0	0	0	0	0	0	1	349	1132	40	1		1	AEBP1	7	44149841	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	36945	44149841	114988822	537	89690											
PKD1L1	168507	broad.mit.edu	37	chr7	47925401	47925401	+	Frame_Shift_Del	DEL	C	C	-													tgaaccttcctctggagcctCccccaggactgcagagtccc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:47925400_47925400TC>T	uc003tny.2	-	17	3123	c.3089_3089GA>A	c.(3088-3090)gagfs	p.E1030fs		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1030	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCTGGAGCCTCCCCCAGGAC	0.617													-	47925401	C	-	47925401	7	5	165	1	0	1	0	1	0	0	0	0	11964	864	30	0	5621	0	PKD1L1	7	47925401	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	3775560	47925401	111213262	538	89691											
DDC	1644	broad.mit.edu	37	chr7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-													gtgacatggaaccaagtggaTttttttggcactgtttattc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					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)	AACCAAGTGGATTTTTTTGGC	0.507													-	50531075	T	-	50531075	7	5	165	1	0	1	0	1	0	0	0	0	4325	1493	52	0	149	0	DDC	7	50531075	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	2605674	50531075	108607588	539	89692											
GBAS	2631	broad.mit.edu	37	chr7	56051483	56051483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaagaatcagctcctGttggagttcagtttctggaa	11	8	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:56051483G>A	uc003tre.1	+	6	515	c.507G>A	c.(505-507)CTG>CTA	p.L169L	GBAS_uc003trf.1_Silent_p.L130L	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	169						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCAGCTCCTGTTGGAGTTCA	0.393													A	56051483	G	A	56051483	2	1	165	1	0	0	0	0	0	0	0	1	6269	1364	48	4		4	GBAS	7	56051483	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5520408	56051483	103087180	540	89693											
ZNF107	51427	broad.mit.edu	37	chr7	64166846	64166846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacatgtggatgagtgtaCggggcacaaaggaggtcata	14	5	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:64166846C>T	uc003ttd.2	+	7	950	c.164C>T	c.(163-165)ACG>ATG	p.T55M	ZNF107_uc003tte.2_Missense_Mutation_p.T55M	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GATGAGTGTACGGGGCACAAA	0.343													T	64166846	C	T	64166846	3	4	165	1	0	0	0	0	1	0	0	0	17712	536	19	1	170	1	ZNF107	7	64166846	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8115363	64166846	94971817	541	89694											
ZNF117	51351	broad.mit.edu	37	chr7	64438973	64438973	+	Frame_Shift_Del	DEL	T	T	-													gggtttctctccagtatgaaTttttttatggtcagtaagat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:64438972_64438972AT>A	uc003ttr.2	-	3	2262	c.977_977AT>T	c.(976-978)attfs	p.I326fs		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	326						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCCAGTATGAATTTTTTTATG	0.348													-	64438973	T	-	64438973	7	5	165	1	0	1	0	1	0	0	0	0	17714	1493	52	0	479	0	ZNF117	7	64438973	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	272127	64438973	94699690	542	89695											
AUTS2	26053	broad.mit.edu	37	chr7	70254882	70254883	+	Frame_Shift_Del	DEL	GA	GA	-													aggacaaacccaaagagaggGagagagaccactcggaatcc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:70254881_70254882GGA>G	uc003tvw.4	+	18	3414_3415	c.2679_2680GGA>G	c.(2677-2682)agggagfs	p.R893fs	AUTS2_uc003tvx.4_Frame_Shift_Del_p.R869fs|AUTS2_uc011keg.2_Frame_Shift_Del_p.R345fs	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	893										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)		CCAAAGAGAGGGAGAGAGACCA	0.639													-	70254883	GA	-	70254882	7	5	165	1	0	1	0	1	0	0	0	0	1225	1175	41	0	2899	0	AUTS2	7	70254882	Frame_Shift_Del	DEL	GA	TCGA-CG-4305-01A-01D-1158-08	5815909	70254882	88883781	543	89696											
MLXIPL	51085	broad.mit.edu	37	chr7	73010239	73010239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctgcaagcccgcacGctcctgctgtagcataagga	9	16	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:73010239G>A	uc003tyn.1	-	14	2167	c.2119C>T	c.(2119-2121)CGT>TGT	p.R707C	MLXIPL_uc003tyj.1_Missense_Mutation_p.R86C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R686C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R705C|MLXIPL_uc003tym.1_Missense_Mutation_p.R688C|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R613C	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	707	Leucine-zipper.				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			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGCCCGCACGCTCCTGCTGT	0.622													A	73010239	G	A	73010239	3	1	165	1	0	0	0	0	1	0	0	0	9637	1087	38	1	455	1	MLXIPL	7	73010239	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2755357	73010239	86128424	544	89697											
HIP1	3092	broad.mit.edu	37	chr7	75176318	75176318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcatgaggctggtacaGcaaccaaggatcctgccaaa	11	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:75176318G>A	uc003uds.1	-	25	2519	c.2478C>T	c.(2476-2478)TGC>TGT	p.C826C	HIP1_uc011kfz.1_Intron	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	826	I/LWEQ.				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			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GGCTGGTACAGCAACCAAGGA	0.532			T	PDGFRB	CMML								A	75176318	G	A	75176318	2	1	165	1	0	0	0	0	0	0	0	1	7114	963	34	2		2	HIP1	7	75176318	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2166079	75176318	83962345	545	89698											
STYXL1	51657	broad.mit.edu	37	chr7	75633122	75633122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggaagaatctgggcttcCggggaatcttctatccggat	13	8	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:75633122C>T	uc003uej.3	-	7	824	c.651G>A	c.(649-651)CCG>CCA	p.P217P	STYXL1_uc003uef.2_Silent_p.P23P|STYXL1_uc011kgf.1_Silent_p.P79P|STYXL1_uc011kgg.1_Silent_p.P69P|STYXL1_uc003ueh.2_Silent_p.P79P|STYXL1_uc003uek.3_Silent_p.P121P|STYXL1_uc003uel.2_Silent_p.P217P|STYXL1_uc003uem.2_Silent_p.P217P|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Silent_p.P217P|STYXL1_uc003uen.1_Silent_p.P217P	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	217	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TCTGGGCTTCCGGGGAATCTT	0.542													T	75633122	C	T	75633122	2	4	165	1	0	0	0	0	0	0	0	1	15360	639	23	1		1	STYXL1	7	75633122	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	456804	75633122	83505541	546	89699											
CACNA2D1	781	broad.mit.edu	37	chr7	81598254	81598254	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatttctacagctttgcttaCcataatgcccgattcatagg	6	10	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:81598254C>G	uc003uhr.1	-	29	2600	c.2344G>C	c.(2344-2346)GTA>CTA	p.V782L	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	794	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTTTGCTTACCATAATGCCC	0.274													G	81598254	C	G	81598254	3	3	165	1	0	0	0	0	1	0	0	0	2548	507	18	5	975	5	CACNA2D1	7	81598254	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5965132	81598254	77540409	547	89700											
CACNA2D1	781	broad.mit.edu	37	chr7	81964453	81964453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccaatttaaactcaccaCcagggctttagatctgttgc	7	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:81964453C>T	uc003uhr.1	-	3	548	c.292G>A	c.(292-294)GTG>ATG	p.V98M		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	98	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAACTCACCACCAGGGCTTTA	0.368													T	81964453	C	T	81964453	3	4	165	1	0	0	0	0	1	0	0	0	2548	507	18	4	3131	4	CACNA2D1	7	81964453	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	366199	81964453	77174210	548	89701											
PCLO	27445	broad.mit.edu	37	chr7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-													ttttgtcttcaggggttggcTttttttcttctaggagtggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:82595384_82595384CT>C	uc003uhx.2	-	3	4009	c.3720_3720AG>G	c.(3718-3720)aagfs	p.K1240fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1179					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						CAGGGGTTGGCTTTTTTTCTT	0.383													-	82595385	T	-	82595385	7	5	165	1	0	1	0	1	0	0	0	0	11583	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	630932	82595385	76543278	549	89702											
PCLO	27445	broad.mit.edu	37	chr7	82785291	82785291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatccctaccaggtccttgCtgcttaggaatcggcttggg	13	11	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:82785291C>A	uc003uhx.2	-	2	955	c.666G>T	c.(664-666)CAG>CAT	p.Q222H	PCLO_uc003uhv.2_Missense_Mutation_p.Q222H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	222	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGGTCCTTGCTGCTTAGGAA	0.448													A	82785291	C	A	82785291	3	1	165	1	0	0	0	0	1	0	0	0	11583	796	28	5	14875	5	PCLO	7	82785291	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	189906	82785291	76353372	550	89703											
SEMA3E	9723	broad.mit.edu	37	chr7	83119491	83119491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacaaggtccctgcctcccAcgaagagcctctcttgatat	7	14	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:83119491A>G	uc003uhy.1	-	2	681	c.215T>C	c.(214-216)GTG>GCG	p.V72A		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	72	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.V72L(1)		ovary(3)	3		Medulloblastoma(109;0.109)				CCTGCCTCCCACGAAGAGCCT	0.408													G	83119491	A	G	83119491	3	3	165	1	0	0	0	0	1	0	0	0	14028	159	6	3	2176	3	SEMA3E	7	83119491	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	334200	83119491	76019172	551	89704											
GRM3	2913	broad.mit.edu	37	chr7	86468787	86468787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggctggggagttccttcGctatctgttactcagccctg	12	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:86468787G>A	uc003uid.2	+	4	3056	c.1957G>A	c.(1957-1959)GCT>ACT	p.A653T	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.A525T|GRM3_uc010leh.2_Missense_Mutation_p.A245T	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	653	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGTTCCTTCGCTATCTGTTA	0.537													A	86468787	G	A	86468787	3	1	165	1	0	0	0	0	1	0	0	0	6798	1087	38	1	1967	1	GRM3	7	86468787	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3349296	86468787	72669876	552	89705											
ABCB4	5244	broad.mit.edu	37	chr7	87092221	87092221	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctgccaatcggagtatcGaaactaaaaaaaggaaataa	7	7	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:87092221G>A	uc003uiv.1	-	4	215	c.139C>T	c.(139-141)CGA>TGA	p.R47*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.R47*|ABCB4_uc003uix.1_Nonsense_Mutation_p.R47*|ABCB4_uc003uiy.2_Nonsense_Mutation_p.R47*	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	47	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCGGAGTATCGAAACTAAAAA	0.358													A	87092221	G	A	87092221	4	1	165	1	0	0	0	0	0	1	0	0	43	1066	37	1	3821	1	ABCB4	7	87092221	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	623434	87092221	72046442	553	89706											
ADAM22	53616	broad.mit.edu	37	chr7	87762257	87762257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgctgaaaggaggaggCgtgaatgaagtaggtgtgaa	17	3	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:87762257C>T	uc003ujn.2	+	12	1147	c.1068C>T	c.(1066-1068)GGC>GGT	p.G356G	ADAM22_uc003ujk.1_Silent_p.G356G|ADAM22_uc003ujl.1_Silent_p.G356G|ADAM22_uc003ujm.2_Silent_p.G356G|ADAM22_uc003ujo.2_Silent_p.G356G|ADAM22_uc003ujp.1_Silent_p.G408G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	356	Peptidase M12B.|Extracellular (Potential).				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			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGAGGAGGCGTGAATGAAG	0.403													T	87762257	C	T	87762257	2	4	165	1	0	0	0	0	0	0	0	1	244	755	27	1		1	ADAM22	7	87762257	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	670036	87762257	71376406	554	89707											
MGC26647	219557	broad.mit.edu	37	chr7	88423902	88423902	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatactgtttcatcttTgacatggccaatataatcta	4	7	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:88423902T>G	uc003ujv.2	-	2	537	c.355A>C	c.(355-357)AAA>CAA	p.K119Q	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	119											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)			GTTTCATCTTTGACATGGCCA	0.358													G	88423902	T	G	88423902	3	3	165	1	0	0	0	0	1	0	0	0	9550	1821	63	5	410	5	MGC26647	7	88423902	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	661645	88423902	70714761	555	89708											
ZNF804B	219578	broad.mit.edu	37	chr7	88965252	88965252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgaaaaaatacagtatGcaagtgagagcagaaatgat	10	4	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:88965252G>A	uc011khi.1	+	4	3494	c.2956G>A	c.(2956-2958)GCA>ACA	p.A986T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	986						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATACAGTATGCAAGTGAGAG	0.393										HNSCC(36;0.09)			A	88965252	G	A	88965252	3	1	165	1	0	0	0	0	1	0	0	0	18168	1319	46	2	2970	2	ZNF804B	7	88965252	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	541350	88965252	70173411	556	89709											
SAMD9	54809	broad.mit.edu	37	chr7	92730766	92730766	+	Frame_Shift_Del	DEL	T	T	-													gggagtgatgggtattgtgaTtttttcattgattccatatt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:92730765_92730765AT>A	uc003umf.3	-	2	4916	c.4646_4646AT>T	c.(4645-4647)atcfs	p.I1549fs	SAMD9_uc003umg.3_Frame_Shift_Del_p.I1549fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.I1549fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1549						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)			GGGTATTGTGATTTTTTCATT	0.388													-	92730766	T	-	92730766	7	5	165	1	0	1	0	1	0	0	0	0	13826	1493	52	0	128	0	SAMD9	7	92730766	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	3765514	92730766	66407897	557	89710											
SAMD9	54809	broad.mit.edu	37	chr7	92732152	92732152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaatgtcttgccaacgCttggcaaatgaatgcatttg	10	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:92732152C>A	uc003umf.2	-	3	3515	c.3259G>T	c.(3259-3261)GCG>TCG	p.A1087S	SAMD9_uc003umg.2_Missense_Mutation_p.A1087S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1087						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	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)			CTTGCCAACGCTTGGCAAATG	0.358													A	92732152	C	A	92732152	3	1	165	1	0	0	0	0	1	0	0	0	13826	797	28	5	1514	5	SAMD9	7	92732152	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1386	92732152	66406511	558	89711											
CASD1	64921	broad.mit.edu	37	chr7	94167072	94167072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaacttggcctgattAtggcatatttctatatgtgt	8	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:94167072A>G	uc003uni.3	+	9	1359	c.1132A>G	c.(1132-1134)ATG>GTG	p.M378V	CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.3_Missense_Mutation_p.M378V	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	378	Helical; (Potential).					integral to membrane				ovary(2)	2	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)			TGGCCTGATTATGGCATATTT	0.313													G	94167072	A	G	94167072	3	3	165	1	0	0	0	0	1	0	0	0	2664	449	16	3	1166	3	CASD1	7	94167072	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1434920	94167072	64971591	559	89712											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97937118	97937118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttggagcccgcagtgtgcGggaagatggtcttcactttc	14	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:97937118G>T	uc003upj.2	-	10	1309	c.1046C>A	c.(1045-1047)CCG>CAG	p.P349Q	uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	349	SH3.				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			ovary(1)	1	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)			CGCAGTGTGCGGGAAGATGGT	0.522													T	97937118	G	T	97937118	3	4	165	1	0	0	0	0	1	0	0	0	1302	1116	39	5	509	5	BAIAP2L1	7	97937118	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3770046	97937118	61201545	560	89713											
TRRAP	8295	broad.mit.edu	37	chr7	98573796	98573796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgctgctcagcgctttcGttcagctgtgccacatttcc	10	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:98573796G>A	uc003upp.2	+	53	8052	c.7843G>A	c.(7843-7845)GTT>ATT	p.V2615I	TRRAP_uc011kis.1_Missense_Mutation_p.V2597I|TRRAP_uc003upr.2_Missense_Mutation_p.V2314I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2615					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			CAGCGCTTTCGTTCAGCTGTG	0.572													A	98573796	G	A	98573796	3	1	165	1	0	0	0	0	1	0	0	0	16598	1145	40	1	7991	1	TRRAP	7	98573796	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	636678	98573796	60564867	561	89714											
AP4M1	9179	broad.mit.edu	37	chr7	99700543	99700543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgaggggaccatctcccGcaatgtggctctggtatacg	15	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:99700543G>A	uc003utb.3	+	4	519	c.311G>A	c.(310-312)CGC>CAC	p.R104H	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.R104H|AP4M1_uc010lgl.1_Missense_Mutation_p.R104H|AP4M1_uc003utc.3_Missense_Mutation_p.R111H|AP4M1_uc010lgm.2_Intron|AP4M1_uc003utd.2_Missense_Mutation_p.R104H|AP4M1_uc011kjh.1_Missense_Mutation_p.R56H|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	104					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCATCTCCCGCAATGTGGCT	0.547													A	99700543	G	A	99700543	3	1	165	1	0	0	0	0	1	0	0	0	753	1087	38	1	325	1	AP4M1	7	99700543	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1126747	99700543	59438120	562	89715											
AGFG2	3268	broad.mit.edu	37	chr7	100160278	100160278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgatgggcggcggcggcGgcagcagcacagggctggcc	19	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100160278G>A	uc003uvf.2	+	8	1196	c.1060G>A	c.(1060-1062)GGC>AGC	p.G354S	AGFG2_uc010lgy.2_Silent_p.A215A	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	354					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						CGGCGGCGGCGGCAGCAGCAC	0.657													A	100160278	G	A	100160278	3	1	165	1	0	0	0	0	1	0	0	0	381	1116	39	1	1090	1	AGFG2	7	100160278	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	459735	100160278	58978385	563	89716											
PCOLCE	5118	broad.mit.edu	37	chr7	100204175	100204175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagggcccggccccaaaCggggaactgagcctaaagtc	14	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100204175C>T	uc003uvo.2	+	6	1060	c.862C>T	c.(862-864)CGG>TGG	p.R288W	uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	288		Cleavage.|Cleavage.			multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGCCCCAAACGGGGAACTGA	0.602													T	100204175	C	T	100204175	3	4	165	1	0	0	0	0	1	0	0	0	11594	527	19	1	884	1	PCOLCE	7	100204175	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	43897	100204175	58934488	564	89717											
SLC12A9	56996	broad.mit.edu	37	chr7	100459447	100459447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctggtggggaacccccGgggcgccctgcctctgctgc	15	17	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100459447G>A	uc003uwp.2	+	12	1767	c.1625G>A	c.(1624-1626)CGG>CAG	p.R542Q	SLC12A9_uc003uwq.2_Missense_Mutation_p.R453Q|SLC12A9_uc011kki.1_Missense_Mutation_p.R73Q|SLC12A9_uc003uwr.2_Missense_Mutation_p.R278Q|SLC12A9_uc003uws.2_Missense_Mutation_p.R73Q|SLC12A9_uc003uwt.2_Missense_Mutation_p.R278Q|SLC12A9_uc003uwv.2_Missense_Mutation_p.R73Q	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	542	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGAACCCCCGGGGCGCCCTG	0.657													A	100459447	G	A	100459447	3	1	165	1	0	0	0	0	1	0	0	0	14390	1116	39	1	1667	1	SLC12A9	7	100459447	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	255272	100459447	58679216	565	89718											
MUC17	140453	broad.mit.edu	37	chr7	100685976	100685976	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggaccactattcttgTcagtaccacacctgttacga	7	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100685976T>A	uc003uxp.1	+	3	11332	c.11279T>A	c.(11278-11280)GTC>GAC	p.V3760D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3760	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTATTCTTGTCAGTACCACA	0.478													A	100685976	T	A	100685976	3	1	165	1	0	0	0	0	1	0	0	0	9974	1667	58	5	11289	5	MUC17	7	100685976	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	226529	100685976	58452687	566	89719											
RABL5	64792	broad.mit.edu	37	chr7	100958511	100958511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattccatccggatctcctcAgggtcatcttccaggtttga	8	12	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:100958511A>G	uc003uyl.2	-	5	565	c.462T>C	c.(460-462)CCT>CCC	p.P154P	RABL5_uc011kkk.1_Silent_p.P77P|RABL5_uc011kkl.1_Silent_p.P77P|RABL5_uc003uym.2_Silent_p.P124P|RABL5_uc010lhw.2_RNA	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5 isoform	154							GTP binding				0	Lung NSC(181;0.215)					GGATCTCCTCAGGGTCATCTT	0.438											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	100958511	A	G	100958511	2	3	165	1	0	0	0	0	0	0	0	1	12973	175	7	3		3	RABL5	7	100958511	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	272535	100958511	58180152	567	89720											
ORC5L	5001	broad.mit.edu	37	chr7	103835622	103835622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggaaatataagacaaaCggctcaaagcatccagtatt	8	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:103835622C>T	uc003vcb.2	-	5	633	c.522G>A	c.(520-522)CCG>CCA	p.P174P	ORC5L_uc011klp.1_Silent_p.P42P|ORC5L_uc003vcc.2_Silent_p.P174P|ORC5L_uc003vcd.2_Silent_p.P174P	NM_002553	NP_002544	O43913	ORC5_HUMAN	origin recognition complex subunit 5 isoform 1	174					cell cycle checkpoint|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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding				0						ATAAGACAAACGGCTCAAAGC	0.333													T	103835622	C	T	103835622	2	4	165	1	0	0	0	0	0	0	0	1	11265	523	19	1		1	ORC5L	7	103835622	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2877111	103835622	55303041	568	89721											
CBLL1	79872	broad.mit.edu	37	chr7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-													tgactgtgctattttacatgAaaaaaagggagataagatgt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:107395908_107395908GA>G	uc003veq.3	+	4	742	c.412_412GA>G	c.(412-414)gaafs	p.E138fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	138					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						TATTTTACATGAAAAAAAGGG	0.264													-	107395909	A	-	107395909	7	5	165	1	0	1	0	1	0	0	0	0	2703	246	9	0	431	0	CBLL1	7	107395909	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	3560287	107395909	51742754	569	89722											
LAMB1	3912	broad.mit.edu	37	chr7	107564774	107564774	+	Frame_Shift_Del	DEL	T	T	-													ggcatcagctgactcttcagTttttttggcaattaaatttt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:107564773_107564773GT>G	uc003vev.2	-	30	5359	c.5198_5198AC>C	c.(5197-5199)actfs	p.T1733fs	LAMB1_uc003vew.2_Frame_Shift_Del_p.T1709fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1709	Domain I.				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)	TGACTCTTCAGTTTTTTTGGC	0.348													-	107564774	T	-	107564774	7	5	165	1	0	1	0	1	0	0	0	0	8610	1725	60	0	243	0	LAMB1	7	107564774	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	168865	107564774	51573889	570	89723											
DOCK4	9732	broad.mit.edu	37	chr7	111517184	111517184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcccaaggaaaatgcccTtggaaaagggaagtttgagg	12	6	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:111517184T>C	uc003vfx.2	-	17	1915	c.1646A>G	c.(1645-1647)AAG>AGG	p.K549R	DOCK4_uc003vfw.2_5'UTR|DOCK4_uc003vfy.2_Missense_Mutation_p.K549R|DOCK4_uc003vga.1_Missense_Mutation_p.K154R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	549	DHR-1.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GAAAATGCCCTTGGAAAAGGG	0.373													C	111517184	T	C	111517184	3	2	165	1	0	0	0	0	1	0	0	0	4689	1609	56	3	4398	3	DOCK4	7	111517184	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3952410	111517184	47621479	571	89724											
MDFIC	29969	broad.mit.edu	37	chr7	114563029	114563029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagcccttcctccgtgCgccctgccgggcggcgagct	12	19	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:114563029C>T	uc003vhf.2	+	2	531	c.268C>T	c.(268-270)CGC>TGC	p.R90C	MDFIC_uc003vhg.2_RNA	NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	Error:Variant_position_missing_in_Q9P1T7_after_alignment					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|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding			ovary(1)	1						TTCCTCCGTGCGCCCTGCCGG	0.637													T	114563029	C	T	114563029	3	4	165	1	0	0	0	0	1	0	0	0	9405	768	27	1	274	1	MDFIC	7	114563029	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3045845	114563029	44575634	572	89725											
KCND2	3751	broad.mit.edu	37	chr7	119915437	119915437	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgcttcgcctggctgcaGcgcctagtcgttaccgtttt	10	12	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:119915437G>T	uc003vjj.1	+	1	1716	c.751G>T	c.(751-753)GCG>TCG	p.A251S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	251	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					CCTGGCTGCAGCGCCTAGTCG	0.527													T	119915437	G	T	119915437	3	4	165	1	0	0	0	0	1	0	0	0	8019	971	34	5	753	5	KCND2	7	119915437	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5352408	119915437	39223226	573	89726											
FAM3C	10447	broad.mit.edu	37	chr7	121023067	121023067	+	Splice_Site	DEL	A	A	-													cttttcattaatatgctcctAaaaaatcaaaacaaaaagca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:121023066_121023066TA>T	uc003vjx.3	-	2	208	c.-40_splice	c.e2-1		FAM3C_uc010lkm.3_Splice_Site	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA.						multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AATATGCTCCTAAAAAATCAA	0.299													-	121023067	A	-	121023067	8	5	165	1	0	1	0	1	0	0	1	0	5558	377	13	0		0	FAM3C	7	121023067	Splice_Site	DEL	A	TCGA-CG-4305-01A-01D-1158-08	1107630	121023067	38115596	574	89727											
PTPRZ1	5803	broad.mit.edu	37	chr7	121637988	121637988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttatgttcttcagatagtaGccatatgcactaatggctta	8	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:121637988G>T	uc003vjy.2	+	10	1563	c.1168G>T	c.(1168-1170)GCC>TCC	p.A390S	PTPRZ1_uc003vjz.2_Missense_Mutation_p.A390S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	390	Extracellular (Potential).|Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TCAGATAGTAGCCATATGCAC	0.348													T	121637988	G	T	121637988	3	4	165	1	0	0	0	0	1	0	0	0	12814	971	34	5	1206	5	PTPRZ1	7	121637988	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	614921	121637988	37500675	575	89728											
SLC13A1	6561	broad.mit.edu	37	chr7	122809297	122809297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatctgctgcactacaGcctccgcaatgggcatcacc	9	14	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:122809297G>A	uc003vkm.2	-	4	483	c.458C>T	c.(457-459)GCT>GTT	p.A153V	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	153						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.A153V(1)		ovary(2)	2					Succinic acid(DB00139)	CTGCACTACAGCCTCCGCAAT	0.527													A	122809297	G	A	122809297	3	1	165	1	0	0	0	0	1	0	0	0	14391	971	34	2	1377	2	SLC13A1	7	122809297	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1171309	122809297	36329366	576	89729											
SPAM1	6677	broad.mit.edu	37	chr7	123599661	123599661	+	Frame_Shift_Del	DEL	A	A	-													agcaaggagtgtgtataaggAaaaactggaattcaagtgac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:123599660_123599660GA>G	uc003vle.3	+	4	1606	c.1167_1167GA>G	c.(1165-1167)aggfs	p.R389fs	SPAM1_uc011koa.1_Frame_Shift_Del_p.R45fs|SPAM1_uc003vld.3_Frame_Shift_Del_p.R389fs|SPAM1_uc022aks.1_Frame_Shift_Del_p.R389fs|SPAM1_uc003vlf.4_Frame_Shift_Del_p.R389fs|SPAM1_uc010lku.3_Frame_Shift_Del_p.R389fs	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	389					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)	TGTGTATAAGGAAAAACTGGA	0.408													-	123599661	A	-	123599661	7	5	165	1	0	1	0	1	0	0	0	0	14986	247	9	0	1178	0	SPAM1	7	123599661	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	790364	123599661	35539002	577	89730											
GPR37	2861	broad.mit.edu	37	chr7	124404490	124404490	+	Frame_Shift_Del	DEL	A	A	-													cccggctctccttggccagtAaaaaagatcgctggctccgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:124404489_124404489TA>T	uc003vli.3	-	0	1193	c.542_542TA>A	c.(541-543)tacfs	p.Y181fs		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	181						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						CCTTGGCCAGTAAAAAAGATC	0.602													-	124404490	A	-	124404490	7	5	165	1	0	1	0	1	0	0	0	0	6691	362	13	0	1308	0	GPR37	7	124404490	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	804829	124404490	34734173	578	89731											
GRM8	2918	broad.mit.edu	37	chr7	126173175	126173175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatcaagaggatactgtatCcaagtgaacaaatgagtgag	10	7	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:126173175C>T	uc003vlr.2	-	8	2572	c.2261G>A	c.(2260-2262)GGA>GAA	p.G754E	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G754E|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	754	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GATACTGTATCCAAGTGAACA	0.438										HNSCC(24;0.065)			T	126173175	C	T	126173175	3	4	165	1	0	0	0	0	1	0	0	0	6803	855	30	4	527	4	GRM8	7	126173175	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1768685	126173175	32965488	579	89732											
ZNF800	168850	broad.mit.edu	37	chr7	127014068	127014068	+	Frame_Shift_Del	DEL	T	T	-													tctgtgctgccggtgtgttcTttttttcatttgaatgattt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:127014067_127014067CT>C	uc010lla.2	-	4	2035	c.1323_1323AG>G	c.(1321-1323)aagfs	p.K441fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K344fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K441fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K441fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	441					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						CCGGTGTGTTCTTTTTTTCAT	0.403													-	127014068	T	-	127014068	7	5	165	1	0	1	0	1	0	0	0	0	18166	1609	56	0	680	0	ZNF800	7	127014068	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	840893	127014068	32124595	580	89733											
IRF5	3663	broad.mit.edu	37	chr7	128582176	128582176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccaccccaccccgccGcgtgcggctgaagccctggc	12	21	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:128582176G>A	uc003vog.2	+	2	162	c.41G>A	c.(40-42)CGC>CAC	p.R14H	IRF5_uc010llr.1_Missense_Mutation_p.R14H|IRF5_uc011kot.1_Missense_Mutation_p.R14H|IRF5_uc011kou.1_Missense_Mutation_p.R14H|IRF5_uc010lls.1_Missense_Mutation_p.R14H|IRF5_uc003voh.2_Missense_Mutation_p.R14H|IRF5_uc010llt.2_Missense_Mutation_p.R14H|IRF5_uc003voi.2_Missense_Mutation_p.R14H|IRF5_uc010llu.1_Missense_Mutation_p.R14H|IRF5_uc003vok.2_Missense_Mutation_p.R14H|IRF5_uc003voj.3_Missense_Mutation_p.R14H|IRF5_uc010llv.1_Missense_Mutation_p.R14H|IRF5_uc010llw.1_Missense_Mutation_p.R14H	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	14	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CCACCCCGCCGCGTGCGGCTG	0.627													A	128582176	G	A	128582176	3	1	165	1	0	0	0	0	1	0	0	0	7833	1087	38	1	43	1	IRF5	7	128582176	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1568108	128582176	30556487	581	89734											
SMO	6608	broad.mit.edu	37	chr7	128849174	128849174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtgctcattaccttcAgctgccacttctacgacttc	6	14	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:128849174A>G	uc003vor.2	+	8	1682	c.1402A>G	c.(1402-1404)AGC>GGC	p.S468G	SMO_uc003vos.2_Missense_Mutation_p.S143G	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	468	Helical; Name=6; (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CATTACCTTCAGCTGCCACTT	0.592			Mis		skin basal cell 								G	128849174	A	G	128849174	3	3	165	1	0	0	0	0	1	0	0	0	14800	188	7	3	1432	3	SMO	7	128849174	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	266998	128849174	30289489	582	89735											
UBE2H	7328	broad.mit.edu	37	chr7	129479104	129479104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatggctgcagcgtcacCattgagaggatctatggggt	14	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:129479104C>T	uc003vpf.1	-	6	764	c.370G>A	c.(370-372)GGT>AGT	p.G124S	UBE2H_uc003vpg.1_Missense_Mutation_p.G93S	NM_003344	NP_003335	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H isoform 1	124					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			skin(1)	1	Melanoma(18;0.0435)					GCAGCGTCACCATTGAGAGGA	0.413													T	129479104	C	T	129479104	3	4	165	1	0	0	0	0	1	0	0	0	16855	594	21	4	189	4	UBE2H	7	129479104	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	629930	129479104	29659559	583	89736											
TRIM24	8805	broad.mit.edu	37	chr7	138189060	138189060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcgttgcccagtttgCagccaagaatgtgcagagag	12	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:138189060C>T	uc003vuc.2	+	2	605	c.390C>T	c.(388-390)TGC>TGT	p.C130C	TRIM24_uc003vub.2_Silent_p.C130C	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	130					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			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						GCCCAGTTTGCAGCCAAGAAT	0.368													T	138189060	C	T	138189060	2	4	165	1	0	0	0	0	0	0	0	1	16495	718	25	2		2	TRIM24	7	138189060	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8709956	138189060	20949603	584	89737											
UBN2	254048	broad.mit.edu	37	chr7	138944044	138944044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagatgatattgagaTgaagaagcggaagcggaaag	14	2	0	6			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:138944044T>C	uc011kqr.1	+	5	833	c.833T>C	c.(832-834)ATG>ACG	p.M278T	UBN2_uc003vuv.2_Missense_Mutation_p.M1T	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	278	Lys-rich.									ovary(1)|skin(1)	2						GATATTGAGATGAAGAAGCGG	0.368													C	138944044	T	C	138944044	3	2	165	1	0	0	0	0	1	0	0	0	16890	1464	51	3	851	3	UBN2	7	138944044	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	754984	138944044	20194619	585	89738											
TBXAS1	6916	broad.mit.edu	37	chr7	139706977	139706977	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgtacccgccagcTttcaggtgtgtggtagcccc	13	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:139706977T>G	uc011kqv.1	+	11	1526	c.1362T>G	c.(1360-1362)GCT>GCG	p.A454A	TBXAS1_uc003vvh.2_Silent_p.A408A|TBXAS1_uc010lne.2_Silent_p.A340A|TBXAS1_uc011kqu.1_Silent_p.A359A|TBXAS1_uc003vvi.2_Silent_p.A408A|TBXAS1_uc003vvj.2_Silent_p.A408A|TBXAS1_uc011kqw.1_Silent_p.A388A	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	407	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					ACCCGCCAGCTTTCAGGTGTG	0.637													G	139706977	T	G	139706977	2	3	165	1	0	0	0	0	0	0	0	1	15661	1596	56	5		5	TBXAS1	7	139706977	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	762933	139706977	19431686	586	89739											
JHDM1D	80853	broad.mit.edu	37	chr7	139791763	139791763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtttgaattctgcatatActttccattctgaaggcttg	8	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:139791763A>G	uc003vvm.2	-	19	2576	c.2572T>C	c.(2572-2574)TAT>CAT	p.Y858H	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	858					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TTCTGCATATACTTTCCATTC	0.473													G	139791763	A	G	139791763	3	3	165	1	0	0	0	0	1	0	0	0	7948	391	14	3	261	3	JHDM1D	7	139791763	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	84786	139791763	19346900	587	89740											
TRPV6	55503	broad.mit.edu	37	chr7	142571315	142571315	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatggcaaaggcagcataGgtgatgctgtacatgaaggg	15	5	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:142571315G>T	uc003wbx.1	-	13	1890	c.1674C>A	c.(1672-1674)ACC>ACA	p.T558T	TRPV6_uc003wbw.1_Silent_p.T344T|TRPV6_uc010lou.1_Silent_p.T429T	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	558	Helical; (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					AGGCAGCATAGGTGATGCTGT	0.567													T	142571315	G	T	142571315	2	4	165	1	0	0	0	0	0	0	0	1	16597	987	35	5		5	TRPV6	7	142571315	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2779552	142571315	16567348	588	89741											
KEL	3792	broad.mit.edu	37	chr7	142643391	142643391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccacgcacttcatccatCgtgggcgggcaggctatgga	12	14	1	0	rs61729041		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:142643391C>T	uc003wcb.2	-	11	1427	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	406	Extracellular (Potential).		R -> Q (in KEL26 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					CTTCATCCATCGTGGGCGGGC	0.562													T	142643391	C	T	142643391	3	4	165	1	0	0	0	0	1	0	0	0	8142	884	31	1	1017	1	KEL	7	142643391	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	72076	142643391	16495272	589	89742											
CLCN1	1180	broad.mit.edu	37	chr7	143013437	143013437	+	Frame_Shift_Del	DEL	C	C	-													gagaatgggggcctccagcaCaggctccggaaggatgcagg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:143013436_143013436AC>A	uc003wcr.1	+	0	218	c.131_131AC>A	c.(130-132)cacfs	p.H44fs	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	44					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)					GGCCTCCAGCACAGGCTCCGG	0.602													-	143013437	C	-	143013437	7	5	165	1	0	1	0	1	0	0	0	0	3462	477	17	0	134	0	CLCN1	7	143013437	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	370046	143013437	16125226	590	89743											
EPHA1	2041	broad.mit.edu	37	chr7	143095949	143095949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtatctgacatcctggcGtccccccgtatctgctgggg	11	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:143095949G>A	uc003wcz.2	-	6	1168	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	361	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACATCCTGGCGTCCCCCCGTA	0.662													A	143095949	G	A	143095949	3	1	165	1	0	0	0	0	1	0	0	0	5165	1145	40	1	1901	1	EPHA1	7	143095949	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	82512	143095949	16042714	591	89744											
CNTNAP2	26047	broad.mit.edu	37	chr7	146818164	146818164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactctgtggtcattgagcGccaggggcggagcattaacc	14	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:146818164G>A	uc003weu.1	+	6	1364	c.848G>A	c.(847-849)CGC>CAC	p.R283H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	283	Laminin G-like 1.|Extracellular (Potential).		R -> 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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			GTCATTGAGCGCCAGGGGCGG	0.532										HNSCC(39;0.1)			A	146818164	G	A	146818164	3	1	165	1	0	0	0	0	1	0	0	0	3647	1087	38	1	870	1	CNTNAP2	7	146818164	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3722215	146818164	12320499	592	89745											
EZH2	2146	broad.mit.edu	37	chr7	148507454	148507454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgaacagaaagctgcacAtgtatttatcatacactttc	6	8	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:148507454A>G	uc003wfd.1	-	17	2151	c.1985T>C	c.(1984-1986)ATG>ACG	p.M662T	EZH2_uc011kug.1_Missense_Mutation_p.M611T|EZH2_uc003wfb.1_Missense_Mutation_p.M667T|EZH2_uc003wfc.1_Missense_Mutation_p.M623T|EZH2_uc011kuh.1_Missense_Mutation_p.M653T	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	662	SET.				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	p.V662fs*13(1)		haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAAGCTGCACATGTATTTATC	0.418			Mis		DLBCL								G	148507454	A	G	148507454	3	3	165	1	0	0	0	0	1	0	0	0	5334	217	8	3	271	3	EZH2	7	148507454	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1689290	148507454	10631209	593	89746											
ZNF746	155061	broad.mit.edu	37	chr7	149174108	149174108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtttgccaggaggtgggcGggatggtggtggaaaagttg	20	5	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149174108G>A	uc003wfw.2	-	6	1014	c.743C>T	c.(742-744)CCG>CTG	p.P248L	ZNF746_uc010lpi.2_Missense_Mutation_p.P248L	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	248					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			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAGGTGGGCGGGATGGTGGT	0.617													A	149174108	G	A	149174108	3	1	165	1	0	0	0	0	1	0	0	0	18126	1116	39	1	1202	1	ZNF746	7	149174108	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	666654	149174108	9964555	594	89747											
ZNF746	155061	broad.mit.edu	37	chr7	149191572	149191572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatggcctgaatcgtgGctgccatcgtccacggagaa	11	13	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149191572G>A	uc003wfw.2	-	2	318	c.47C>T	c.(46-48)GCC>GTC	p.A16V	ZNF746_uc010lpi.2_Missense_Mutation_p.A16V	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	16	Potential.				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			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTGAATCGTGGCTGCCATCGT	0.537													A	149191572	G	A	149191572	3	1	165	1	0	0	0	0	1	0	0	0	18126	1203	42	2	1914	2	ZNF746	7	149191572	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	17464	149191572	9947091	595	89748											
ZNF862	643641	broad.mit.edu	37	chr7	149547315	149547315	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggagctgccggtggtgttCgaggatgtggcagtgtattt	18	5	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149547315C>T	uc010lpn.2	+	5	1197	c.1005C>T	c.(1003-1005)TTC>TTT	p.F335F	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	335	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CGGTGGTGTTCGAGGATGTGG	0.592													T	149547315	C	T	149547315	2	4	165	1	0	0	0	0	0	0	0	1	18192	883	31	1		1	ZNF862	7	149547315	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	355743	149547315	9591348	596	89749											
ZNF862	643641	broad.mit.edu	37	chr7	149557773	149557773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttagtcagaggttacacGgggccttttaaagtggagac	14	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:149557773G>A	uc010lpn.2	+	7	1716	c.1524G>A	c.(1522-1524)ACG>ACA	p.T508T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	508	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GAGGTTACACGGGGCCTTTTA	0.453													A	149557773	G	A	149557773	2	1	165	1	0	0	0	0	0	0	0	1	18192	1103	39	1		1	ZNF862	7	149557773	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	10458	149557773	9580890	597	89750											
LRRC61	65999	broad.mit.edu	37	chr7	150034580	150034580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgggagtcctggcccagCcggagcagctccatcctgga	13	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:150034580C>T	uc003wgv.2	+	3	1304	c.630C>T	c.(628-630)AGC>AGT	p.S210S	LRRC61_uc003wgx.2_Silent_p.S210S|LRRC61_uc003wgw.2_Silent_p.S210S|LRRC61_uc003wgz.3_Silent_p.S210S	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	210											0			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCTGGCCCAGCCGGAGCAGCT	0.701													T	150034580	C	T	150034580	2	4	165	1	0	0	0	0	0	0	0	1	9017	738	26	2		2	LRRC61	7	150034580	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	476807	150034580	9104083	598	89751											
ABP1	26	broad.mit.edu	37	chr7	150554121	150554121	+	Frame_Shift_Del	DEL	C	C	-													cctggccttcaccgatgtggCcccccggggtgtggcttctg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:150554120_150554120GC>G	uc003why.1	+	2	4780	c.562_562GC>G	c.(562-564)gccfs	p.A188fs	ABP1_uc003whz.1_Frame_Shift_Del_p.A188fs|ABP1_uc003wia.1_Frame_Shift_Del_p.A188fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	188					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACCGATGTGGCCCCCCGGGG	0.587													-	150554121	C	-	150554121	7	5	165	1	0	1	0	1	0	0	0	0	98	739	26	0	565	0	ABP1	7	150554121	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	519541	150554121	8584542	599	89752											
KCNH2	3757	broad.mit.edu	37	chr7	150656686	150656686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagccagctggtgggggggCcccggtggttggtgtcatga	19	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:150656686C>G	uc003wic.2	-	3	459	c.446G>C	c.(445-447)GGC>GCC	p.G149A	KCNH2_uc011kux.1_Missense_Mutation_p.G53A|KCNH2_uc003wie.2_Missense_Mutation_p.G149A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	149	Cytoplasmic (Potential).				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			skin(3)|ovary(1)	4	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)	GGTGGGGGGGCCCCGGTGGTT	0.582													G	150656686	C	G	150656686	3	3	165	1	0	0	0	0	1	0	0	0	8032	739	26	5	3466	5	KCNH2	7	150656686	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	102565	150656686	8481977	600	89753											
MLL3	58508	broad.mit.edu	37	chr7	151860314	151860314	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaactgtagaagggaatctGggacacagatgtcctactac	12	8	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:151860314G>A	uc003wla.2	-	43	10567	c.10348C>T	c.(10348-10350)CAG>TAG	p.Q3450*	MLL3_uc003wkz.2_Nonsense_Mutation_p.Q2511*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q959*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3450	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGGGAATCTGGGACACAGAT	0.483			N		medulloblastoma								A	151860314	G	A	151860314	4	1	165	1	0	0	0	0	0	1	0	0	9622	1357	47	4	4455	4	MLL3	7	151860314	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1203628	151860314	7278349	601	89754											
NCAPG2	54892	broad.mit.edu	37	chr7	158445158	158445158	+	Frame_Shift_Del	DEL	A	A	-													gtcaagaagtaatgaaacatAaaaaaatcccttcactagaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr7:158445157_158445157TA>T	uc011kwe.1	-	22	2907	c.2762_2762TA>A	c.(2761-2763)tatfs	p.Y921fs	NCAPG2_uc010lqu.1_Frame_Shift_Del_p.Y713fs|NCAPG2_uc003wnx.1_Frame_Shift_Del_p.Y921fs|NCAPG2_uc003wnv.1_Frame_Shift_Del_p.Y921fs|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Frame_Shift_Del_p.Y422fs|NCAPG2_uc011kwd.1_Frame_Shift_Del_p.Y364fs	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	921					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)		TAATGAAACATAAAAAAATCC	0.318													-	158445158	A	-	158445158	7	5	165	1	0	1	0	1	0	0	0	0	10208	362	13	0	694	0	NCAPG2	7	158445158	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	6584844	158445158	693505	602	89755											
ZNF596	169270	broad.mit.edu	37	chr8	196342	196342	+	Frame_Shift_Del	DEL	A	A	-													aacatgagagaactcacactAaaaaagcaatgaatatgtaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:196341_196341TA>T	uc003wot.3	+	5	1782	c.1494_1494TA>T	c.(1492-1494)actfs	p.T498fs	ZNF596_uc003wou.3_Frame_Shift_Del_p.T397fs|ZNF596_uc003wov.3_Frame_Shift_Del_p.T498fs|ZNF596_uc003wow.3_Frame_Shift_Del_p.T498fs	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GAACTCACACTAAAAAAGCAA	0.348													-	196342	A	-	196342	7	5	165	1	0	1	0	1	0	0	0	0	18023	363	13	0	1513	0	ZNF596	8	196342	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08		196342	146167680	603	89756											
ARHGEF10	9639	broad.mit.edu	37	chr8	1873491	1873491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgtgtggaagacgatgGgaatcacattaaaaaggaga	13	4	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:1873491G>A	uc003wpr.2	+	22	2709	c.2531G>A	c.(2530-2532)GGG>GAG	p.G844E	ARHGEF10_uc003wpq.1_Missense_Mutation_p.G868E|ARHGEF10_uc003wps.2_Missense_Mutation_p.G806E|ARHGEF10_uc003wpv.2_Missense_Mutation_p.G576E|ARHGEF10_uc010lre.2_Missense_Mutation_p.G524E	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	869					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			large_intestine(1)	1		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)		GAAGACGATGGGAATCACATT	0.507													A	1873491	G	A	1873491	3	1	165	1	0	0	0	0	1	0	0	0	894	1232	43	4	2613	4	ARHGEF10	8	1873491	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1677149	1873491	144490531	604	89757											
CSMD1	64478	broad.mit.edu	37	chr8	3165998	3165998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtagttagggatgcccGgatcctcacattttaccaga	10	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:3165998G>A	uc011kwk.1	-	24	4052	c.3662C>T	c.(3661-3663)CCG>CTG	p.P1221L	CSMD1_uc011kwj.1_Missense_Mutation_p.P613L|CSMD1_uc003wqe.2_Missense_Mutation_p.P377L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1221	Extracellular (Potential).|Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGGATGCCCGGATCCTCACA	0.483													A	3165998	G	A	3165998	3	1	165	1	0	0	0	0	1	0	0	0	3944	1116	39	1	7223	1	CSMD1	8	3165998	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1292507	3165998	143198024	605	89758											
CSMD1	64478	broad.mit.edu	37	chr8	3855550	3855550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtccaggtgcagtccgcGttgttctcgtactctgaagg	13	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:3855550G>A	uc011kwk.1	-	5	1083	c.693C>T	c.(691-693)AAC>AAT	p.N231N		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	231	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGTCCGCGTTGTTCTCGT	0.567													A	3855550	G	A	3855550	2	1	165	1	0	0	0	0	0	0	0	1	3944	1136	40	1		1	CSMD1	8	3855550	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	689552	3855550	142508472	606	89759											
XKR5	389610	broad.mit.edu	37	chr8	6690370	6690370	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggacagcaagggccagCcacccccacagaagccgtcc	12	16	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:6690370C>T	uc003wqp.2	-	2	133	c.111G>A	c.(109-111)TGG>TGA	p.W37*	XKR5_uc003wqq.2_5'UTR|XKR5_uc003wqr.1_RNA	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	XK-related protein 5a	37	Helical; (Potential).					integral to membrane					0			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CAAGGGCCAGCCACCCCCACA	0.602													T	6690370	C	T	6690370	4	4	165	1	0	0	0	0	0	1	0	0	17431	740	26	2	1974	2	XKR5	8	6690370	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2834820	6690370	139673652	607	89760											
PINX1	54984	broad.mit.edu	37	chr8	10623273	10623273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttcttcccccttttacGttccacctgcgtctcagaaa	4	15	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:10623273G>A	uc003wth.2	-	7	658	c.625C>T	c.(625-627)CGT>TGT	p.R209C	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	209					mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		CCCCTTTTACGTTCCACCTGC	0.522													A	10623273	G	A	10623273	3	1	165	1	0	0	0	0	1	0	0	0	11933	1145	40	1	365	1	PINX1	8	10623273	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3932903	10623273	135740749	608	89761											
DLC1	10395	broad.mit.edu	37	chr8	13357188	13357188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgatgttttctgcccTtgggtatttaaaacctgttt	9	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:13357188T>C	uc003wwm.2	-	2	837	c.393A>G	c.(391-393)CAA>CAG	p.Q131Q	DLC1_uc003wwn.2_Silent_p.Q131Q|DLC1_uc011kxy.1_Silent_p.Q131Q	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	131					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TTTTCTGCCCTTGGGTATTTA	0.423													C	13357188	T	C	13357188	2	2	165	1	0	0	0	0	0	0	0	1	4550	1606	56	3		3	DLC1	8	13357188	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2733915	13357188	133006834	609	89762											
MSR1	4481	broad.mit.edu	37	chr8	16021619	16021619	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtctgagaatgttcccaatCtttcagtctgagatcattag	9	8	5	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:16021619C>A	uc003wwz.2	-	5	970	c.772G>T	c.(772-774)GAT>TAT	p.D258Y	MSR1_uc010lsu.2_Missense_Mutation_p.D276Y|MSR1_uc003wxa.2_Missense_Mutation_p.D258Y|MSR1_uc003wxb.2_Missense_Mutation_p.D258Y|MSR1_uc011kxz.1_Missense_Mutation_p.D32Y	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	258	Extracellular (Potential).				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			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGTTCCCAATCTTTCAGTCTG	0.303													A	16021619	C	A	16021619	3	1	165	1	0	0	0	0	1	0	0	0	9886	913	32	5	655	5	MSR1	8	16021619	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2664431	16021619	130342403	610	89763											
ZDHHC2	51201	broad.mit.edu	37	chr8	17055134	17055134	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacttataaaaccagatcgCtgccatcactgctccgtctg	6	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:17055134C>A	uc003wxe.2	+	5	814	c.417C>A	c.(415-417)CGC>CGA	p.R139R		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	139	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AACCAGATCGCTGCCATCACT	0.378													A	17055134	C	A	17055134	2	1	165	1	0	0	0	0	0	0	0	1	17607	784	28	5		5	ZDHHC2	8	17055134	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1033515	17055134	129308888	611	89764											
PCM1	5108	broad.mit.edu	37	chr8	17867107	17867107	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaagactgtggagaagatCttcttgtagagatatctgaa	11	4	3	6			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:17867107C>T	uc003wyi.3	+	31	5436	c.5014C>T	c.(5014-5016)CTT>TTT	p.L1672F	PCM1_uc011kyh.1_Missense_Mutation_p.L1664F|PCM1_uc003wyj.3_Missense_Mutation_p.L1618F|PCM1_uc011kyi.1_Missense_Mutation_p.L471F|PCM1_uc011kyj.1_Missense_Mutation_p.L428F|PCM1_uc003wyk.3_Missense_Mutation_p.L354F|PCM1_uc011kyk.1_Missense_Mutation_p.L288F	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1672	Interaction with HAP1.				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)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		TGGAGAAGATCTTCTTGTAGA	0.308			T	RET|JAK2	papillary thyroid|CML|MPD								T	17867107	C	T	17867107	3	4	165	1	0	0	0	0	1	0	0	0	11584	913	32	4	5128	4	PCM1	8	17867107	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	811973	17867107	128496915	612	89765											
SH2D4A	63898	broad.mit.edu	37	chr8	19250969	19250969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctgtaaacatttcctcatcGatgcctctgcagacgcctac	7	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:19250969G>T	uc003wzb.2	+	9	1525	c.1189G>T	c.(1189-1191)GAT>TAT	p.D397Y	SH2D4A_uc011kym.1_Missense_Mutation_p.D352Y|SH2D4A_uc003wzc.2_Missense_Mutation_p.D397Y	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	397	SH2.					cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		TTTCCTCATCGATGCCTCTGC	0.527													T	19250969	G	T	19250969	3	4	165	1	0	0	0	0	1	0	0	0	14235	1058	37	5	1269	5	SH2D4A	8	19250969	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1383862	19250969	127113053	613	89766											
LZTS1	11178	broad.mit.edu	37	chr8	20107710	20107710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccttggtgcgcagggcGccctccaggtcctgggtcct	15	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:20107710G>A	uc003wzr.2	-	3	1425	c.1314C>T	c.(1312-1314)GGC>GGT	p.G438G	LZTS1_uc010ltg.1_Silent_p.G438G	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	438					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCGCAGGGCGCCCTCCAGGT	0.647													A	20107710	G	A	20107710	2	1	165	1	0	0	0	0	0	0	0	1	9138	1074	38	1		1	LZTS1	8	20107710	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	856741	20107710	126256312	614	89767											
FAM160B2	64760	broad.mit.edu	37	chr8	21959298	21959298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacccccatgagcccgagcGacctttcttcgagggccact	11	16	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:21959298G>A	uc011kyx.1	+	14	1838	c.1787G>A	c.(1786-1788)CGA>CAA	p.R596Q	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	596											0						GAGCCCGAGCGACCTTTCTTC	0.632													A	21959298	G	A	21959298	3	1	165	1	0	0	0	0	1	0	0	0	5471	1058	37	1	1640	1	FAM160B2	8	21959298	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1851588	21959298	124404724	615	89768											
LGI3	203190	broad.mit.edu	37	chr8	22005798	22005798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggagcctgcacagccaGctcctggaaccgtacaaact	10	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22005798G>A	uc003xav.2	-	8	1811	c.1522C>T	c.(1522-1524)CTG>TTG	p.L508L	LGI3_uc010ltu.2_Silent_p.L484L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	508	EAR 7.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGCACAGCCAGCTCCTGGAAC	0.607													A	22005798	G	A	22005798	2	1	165	1	0	0	0	0	0	0	0	1	8753	962	34	2		2	LGI3	8	22005798	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	46500	22005798	124358224	616	89769											
C8orf58	541565	broad.mit.edu	37	chr8	22459291	22459291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcgctatctggaacacCtgtgcctggtgctggagcag	13	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22459291C>A	uc003xce.2	+	3	695	c.583C>A	c.(583-585)CTG>ATG	p.L195M	C8orf58_uc011kzl.1_Missense_Mutation_p.L195M|C8orf58_uc003xcf.2_Missense_Mutation_p.L195M|KIAA1967_uc003xch.2_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	195										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTGGAACACCTGTGCCTGGT	0.652													A	22459291	C	A	22459291	3	1	165	1	0	0	0	0	1	0	0	0	2433	680	24	5	593	5	C8orf58	8	22459291	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	453493	22459291	123904731	617	89770											
KIAA1967	57805	broad.mit.edu	37	chr8	22464797	22464797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcagcctcagttgaTcttccagcctcaccggattc	10	14	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22464797T>C	uc003xch.2	+	6	583	c.446T>C	c.(445-447)ATC>ACC	p.I149T	KIAA1967_uc003xci.2_Missense_Mutation_p.I149T|KIAA1967_uc003xcj.1_5'UTR	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	149					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTCAGTTGATCTTCCAGCCT	0.557													C	22464797	T	C	22464797	3	2	165	1	0	0	0	0	1	0	0	0	8265	1435	50	3	464	3	KIAA1967	8	22464797	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	5506	22464797	123899225	618	89771											
KIAA1967	57805	broad.mit.edu	37	chr8	22476226	22476226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctggatggtggccttcccGaggaggtgctcttcggtatg	16	10	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:22476226G>A	uc003xch.2	+	18	2454	c.2317G>A	c.(2317-2319)GAG>AAG	p.E773K	KIAA1967_uc003xci.2_Missense_Mutation_p.E773K|KIAA1967_uc003xcj.1_Missense_Mutation_p.E442K	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	773					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGCCTTCCCGAGGAGGTGCT	0.627													A	22476226	G	A	22476226	3	1	165	1	0	0	0	0	1	0	0	0	8265	1059	37	1	2383	1	KIAA1967	8	22476226	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	11429	22476226	123887796	619	89772											
NEFL	4747	broad.mit.edu	37	chr8	24813259	24813259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcgcggatgtccttgagCgcggcggaaaggtcgggctt	18	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:24813259C>T	uc003xee.2	-	1	873	c.771G>A	c.(769-771)GCG>GCA	p.A257A		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	257	Rod.|Coil 2A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGTCCTTGAGCGCGGCGGAAA	0.607													T	24813259	C	T	24813259	2	4	165	1	0	0	0	0	0	0	0	1	10315	755	27	1		1	NEFL	8	24813259	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2337033	24813259	121550763	620	89773											
KCTD9	54793	broad.mit.edu	37	chr8	25290099	25290099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaggtagccactctcAggttaattcctgtcatctga	7	9	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:25290099A>G	uc003xeo.2	-	11	1132	c.974T>C	c.(973-975)CTG>CCG	p.L325P	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	325	Pentapeptide repeat 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGCCACTCTCAGGTTAATTCC	0.393													G	25290099	A	G	25290099	3	3	165	1	0	0	0	0	1	0	0	0	8116	188	7	3	203	3	KCTD9	8	25290099	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	476840	25290099	121073923	621	89774											
DPYSL2	1808	broad.mit.edu	37	chr8	26510813	26510813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgaagtgtctgtgacGcccaagacagtcactccagc	12	11	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:26510813G>A	uc003xfb.1	+	13	1877	c.1527G>A	c.(1525-1527)ACG>ACA	p.T509T	DPYSL2_uc003xfa.2_Silent_p.T614T|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.T473T	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	509				T->A: Greatly diminishes binding to 3F4 antibody.	axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		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)		TGTCTGTGACGCCCAAGACAG	0.602													A	26510813	G	A	26510813	2	1	165	1	0	0	0	0	0	0	0	1	4747	1074	38	1		1	DPYSL2	8	26510813	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1220714	26510813	119853209	622	89775											
ZNF395	55893	broad.mit.edu	37	chr8	28206306	28206306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtcccggtgctcgatgCcatacaccttgcggcacttc	10	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:28206306C>T	uc003xgq.2	-	10	1560	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	ZNF395_uc003xgt.2_Missense_Mutation_p.G491D|ZNF395_uc003xgr.2_Missense_Mutation_p.G491D|ZNF395_uc003xgs.2_Missense_Mutation_p.G491D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	491					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTGCTCGATGCCATACACCTT	0.612													T	28206306	C	T	28206306	3	4	165	1	0	0	0	0	1	0	0	0	17878	739	26	2	73	2	ZNF395	8	28206306	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1695493	28206306	118157716	623	89776											
UNC5D	137970	broad.mit.edu	37	chr8	35406866	35406866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagctcctgggacactgCctcatttcatagaggagcca	9	13	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:35406866C>T	uc003xjr.1	+	2	488	c.160C>T	c.(160-162)CCT>TCT	p.P54S	UNC5D_uc003xjs.1_Missense_Mutation_p.P49S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	54	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGGACACTGCCTCATTTCAT	0.463													T	35406866	C	T	35406866	3	4	165	1	0	0	0	0	1	0	0	0	16992	739	26	2	166	2	UNC5D	8	35406866	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7200560	35406866	110957156	624	89777											
WHSC1L1	54904	broad.mit.edu	37	chr8	38178634	38178635	+	Frame_Shift_Del	DEL	TC	TC	-													tggcacaacctcagtggattTctctgattcagaacgagttc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38178633_38178634TTC>T	uc003xli.3	-	7	2283_2284	c.1765_1766GAA>A	c.(1765-1767)aaafs	p.K589fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.K589fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.K589fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.K589fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	589					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)			CTCAGTGGATTTCTCTGATTCA	0.361			T	NUP98	AML								-	38178635	TC	-	38178634	7	5	165	1	0	1	0	1	0	0	0	0	17360	1792	62	0	2703	0	WHSC1L1	8	38178634	Frame_Shift_Del	DEL	TC	TCGA-CG-4305-01A-01D-1158-08	2771768	38178634	108185388	625	89778											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187222	38187222	+	Frame_Shift_Del	DEL	T	T	-													cacagatcttggtcgtcgggTttttttaacttcggttttgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38187221_38187221GT>G	uc003xli.3	-	5	1774	c.1256_1256AC>C	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					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)			TGGTCGTCGGGTTTTTTTAAC	0.433			T	NUP98	AML								-	38187222	T	-	38187222	7	5	165	1	0	1	0	1	0	0	0	0	17360	1725	60	0	3221	0	WHSC1L1	8	38187222	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	8588	38187222	108176800	626	89779											
FGFR1	2260	broad.mit.edu	37	chr8	38275768	38275768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccgaggcagctcccagcGagggtcttcgggaagctcat	14	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38275768G>A	uc003xlp.2	-	11	2350	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R468C|FGFR1_uc011lbp.1_Missense_Mutation_p.R381C|FGFR1_uc011lbq.1_Missense_Mutation_p.R379C|FGFR1_uc010lwk.2_Missense_Mutation_p.R460C	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	470	Cytoplasmic (Potential).				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			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	AGCTCCCAGCGAGGGTCTTCG	0.522		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38275768	G	A	38275768	3	1	165	1	0	0	0	0	1	0	0	0	5863	1058	37	1	1096	1	FGFR1	8	38275768	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	88546	38275768	108088254	627	89780											
FGFR1	2260	broad.mit.edu	37	chr8	38279341	38279341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacggtcaaccatgcagagTgatgggagagtccgatagag	15	7	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38279341T>C	uc003xlp.2	-	8	1997	c.1055A>G	c.(1054-1056)CAC>CGC	p.H352R	FGFR1_uc011lbo.1_Missense_Mutation_p.H350R|FGFR1_uc011lbp.1_Missense_Mutation_p.H263R|FGFR1_uc011lbq.1_Missense_Mutation_p.H261R|FGFR1_uc010lwk.2_Missense_Mutation_p.H344R|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.H192R|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.H383R|FGFR1_uc011lbv.1_Missense_Mutation_p.H350R|FGFR1_uc011lbw.1_Missense_Mutation_p.H263R|FGFR1_uc011lbx.1_Missense_Mutation_p.H263R	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	352	Ig-like C2-type 3.|Extracellular (Potential).				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			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	CCATGCAGAGTGATGGGAGAG	0.542		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						C	38279341	T	C	38279341	3	2	165	1	0	0	0	0	1	0	0	0	5863	1696	59	3	1457	3	FGFR1	8	38279341	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3573	38279341	108084681	628	89781											
TACC1	6867	broad.mit.edu	37	chr8	38705511	38705511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaaaaatctgtgatgaGctgattgcaaagctgggaaa	11	6	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:38705511G>T	uc010lwp.2	+	13	2767	c.2388G>T	c.(2386-2388)GAG>GAT	p.E796D	TACC1_uc003xma.2_Missense_Mutation_p.E234D|TACC1_uc003xlz.2_Missense_Mutation_p.E601D|TACC1_uc003xmc.3_Missense_Mutation_p.E600D|TACC1_uc011lbz.1_Missense_Mutation_p.E783D|TACC1_uc003xmb.3_Missense_Mutation_p.E722D|TACC1_uc003xmf.3_Missense_Mutation_p.E386D|TACC1_uc011lca.1_Missense_Mutation_p.E779D|TACC1_uc011lcb.1_Missense_Mutation_p.E572D|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.E613D|TACC1_uc010lwq.2_Missense_Mutation_p.E612D	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	796	|Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		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)			TCTGTGATGAGCTGATTGCAA	0.403													T	38705511	G	T	38705511	3	4	165	1	0	0	0	0	1	0	0	0	15498	962	34	5	2438	5	TACC1	8	38705511	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	426170	38705511	107658511	629	89782											
IDO2	169355	broad.mit.edu	37	chr8	39845406	39845406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaacctggagaccatcAtctcatttcctgggggagag	12	10	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:39845406A>G	uc010lwy.1	+	7	747	c.505A>G	c.(505-507)ATC>GTC	p.I169V	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	156					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						GGAGACCATCATCTCATTTCC	0.498													G	39845406	A	G	39845406	3	3	165	1	0	0	0	0	1	0	0	0	7502	217	8	3	531	3	IDO2	8	39845406	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1139895	39845406	106518616	630	89783											
ANK1	286	broad.mit.edu	37	chr8	41526075	41526075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagccgtctgcatcccagtCctgcagtctggggtccagaa	12	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:41526075C>T	uc003xok.2	-	39	5188	c.5104G>A	c.(5104-5106)GAC>AAC	p.D1702N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.D856N|ANK1_uc003xoi.2_Missense_Mutation_p.D1702N|ANK1_uc003xoj.2_Missense_Mutation_p.D1702N|ANK1_uc003xol.2_Missense_Mutation_p.D1540N|ANK1_uc003xom.2_Missense_Mutation_p.D1743N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1702	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			GCATCCCAGTCCTGCAGTCTG	0.562													T	41526075	C	T	41526075	3	4	165	1	0	0	0	0	1	0	0	0	620	855	30	4	883	4	ANK1	8	41526075	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1680669	41526075	104837947	631	89784											
ANK1	286	broad.mit.edu	37	chr8	41753904	41753904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgggagcggtttctcCgcttcctgttggattcctcc	12	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:41753904C>T	uc003xom.2	-	1	377	c.95G>A	c.(94-96)CGG>CAG	p.R32Q		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	Error:Variant_position_missing_in_P16157_after_alignment					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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			GCGGTTTCTCCGCTTCCTGTT	0.617													T	41753904	C	T	41753904	3	4	165	1	0	0	0	0	1	0	0	0	620	652	23	1	6202	1	ANK1	8	41753904	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	227829	41753904	104610118	632	89785											
AP3M2	10947	broad.mit.edu	37	chr8	42012427	42012427	+	Frame_Shift_Del	DEL	C	C	-													gccgtgatccagacggaggtCccccctctgtttgtcattga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:42012426_42012426TC>T	uc003xop.3	+	2	512	c.221_221TC>T	c.(220-222)gtcfs	p.V74fs	AP3M2_uc003xoo.3_Frame_Shift_Del_p.V74fs|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_5'UTR	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	74					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGACGGAGGTCCCCCCTCTG	0.468													-	42012427	C	-	42012427	7	5	165	1	0	1	0	1	0	0	0	0	748	842	30	0	224	0	AP3M2	8	42012427	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	258523	42012427	104351595	633	89786											
CHRNB3	1142	broad.mit.edu	37	chr8	42587519	42587519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatcatgtggatcgctacTcatccccagagaaagaggag	11	9	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:42587519T>C	uc003xpi.1	+	5	1197	c.1069T>C	c.(1069-1071)TCA>CCA	p.S357P		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	357	Cytoplasmic (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	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)			GGATCGCTACTCATCCCCAGA	0.443													C	42587519	T	C	42587519	3	2	165	1	0	0	0	0	1	0	0	0	3392	1551	54	3	1087	3	CHRNB3	8	42587519	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	575092	42587519	103776503	634	89787											
FNTA	2339	broad.mit.edu	37	chr8	42940306	42940306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttcattttcagttaTgtgaaatcctagctaaagaa	5	5	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:42940306T>C	uc003xps.2	+	9	1069	c.1021T>C	c.(1021-1023)TGT>CGT	p.C341R	FNTA_uc003xpt.2_Missense_Mutation_p.C250R|FNTA_uc003xpu.2_Missense_Mutation_p.C274R|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	341					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	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)			TTTTCAGTTATGTGAAATCCT	0.313													C	42940306	T	C	42940306	3	2	165	1	0	0	0	0	1	0	0	0	5977	1464	51	3	1055	3	FNTA	8	42940306	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	352787	42940306	103423716	635	89788											
PRKDC	5591	broad.mit.edu	37	chr8	48845642	48845642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcaacaatcttcaaaaCggattttacaaattcatcat	2	9	5	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:48845642C>T	uc003xqi.2	-	16	1771	c.1714G>A	c.(1714-1716)GTT>ATT	p.V572I	PRKDC_uc003xqj.2_Missense_Mutation_p.V572I|PRKDC_uc011ldh.1_Missense_Mutation_p.V572I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	572					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCTTCAAAACGGATTTTACA	0.294								NHEJ					T	48845642	C	T	48845642	3	4	165	1	0	0	0	0	1	0	0	0	12521	536	19	1	10955	1	PRKDC	8	48845642	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5905336	48845642	97518380	636	89789											
PRKDC	5591	broad.mit.edu	37	chr8	48852128	48852128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcctgcaaaaagtccatAtccacggatagcaatagata	6	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:48852128A>G	uc003xqi.2	-	11	1153	c.1096T>C	c.(1096-1098)TAT>CAT	p.Y366H	PRKDC_uc003xqj.2_Missense_Mutation_p.Y366H|PRKDC_uc011ldh.1_Missense_Mutation_p.Y366H	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	366					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAAGTCCATATCCACGGATA	0.333								NHEJ					G	48852128	A	G	48852128	3	3	165	1	0	0	0	0	1	0	0	0	12521	449	16	3	11593	3	PRKDC	8	48852128	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	6486	48852128	97511894	637	89790											
RB1CC1	9821	broad.mit.edu	37	chr8	53540632	53540632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcaggtagagactcTgaatgtagaaaatataaagt	11	5	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:53540632T>C	uc003xre.3	-	22	5154	c.4596A>G	c.(4594-4596)TCA>TCG	p.S1532S	RB1CC1_uc003xrf.3_Silent_p.S1532S	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1532					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTAGAGACTCTGAATGTAGAA	0.383													C	53540632	T	C	53540632	2	2	165	1	0	0	0	0	0	0	0	1	13099	1567	55	3		3	RB1CC1	8	53540632	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	4688504	53540632	92823390	638	89791											
RB1CC1	9821	broad.mit.edu	37	chr8	53573539	53573539	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcttcatataatctcTttccatctttgactaaagca	3	10	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:53573539T>G	uc003xre.3	-	11	2132	c.1574A>C	c.(1573-1575)AAG>ACG	p.K525T	RB1CC1_uc003xrf.3_Missense_Mutation_p.K525T	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	525					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATATAATCTCTTTCCATCTTT	0.284													G	53573539	T	G	53573539	3	3	165	1	0	0	0	0	1	0	0	0	13099	1609	56	5	3266	5	RB1CC1	8	53573539	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	32907	53573539	92790483	639	89792											
NPBWR1	2831	broad.mit.edu	37	chr8	53853024	53853024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgacgagcagggccggcGccagtgcgtgctagtctttc	15	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:53853024G>A	uc011ldu.1	+	1	557	c.557G>A	c.(556-558)CGC>CAC	p.R186H		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	186	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CAGGGCCGGCGCCAGTGCGTG	0.706													A	53853024	G	A	53853024	3	1	165	1	0	0	0	0	1	0	0	0	10568	1087	38	1	559	1	NPBWR1	8	53853024	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	279485	53853024	92510998	640	89793											
CHD7	55636	broad.mit.edu	37	chr8	61654300	61654300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcgcgtctccgcactcGcagtatcacacccctcccgt	8	19	2	0	rs115293759	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:61654300G>A	uc003xue.2	+	2	786	c.309G>A	c.(307-309)TCG>TCA	p.S103S		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	103					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			CTCCGCACTCGCAGTATCACA	0.542													A	61654300	G	A	61654300	2	1	165	1	0	0	0	0	0	0	0	1	3330	1074	38	1		1	CHD7	8	61654300	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	7801276	61654300	84709722	641	89794											
CHD7	55636	broad.mit.edu	37	chr8	61654770	61654770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagttccatcaccaccCctctactgctctccatggag	7	17	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:61654770C>T	uc003xue.2	+	2	1256	c.779C>T	c.(778-780)CCC>CTC	p.P260L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	260					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			CATCACCACCCCTCTACTGCT	0.582													T	61654770	C	T	61654770	3	4	165	1	0	0	0	0	1	0	0	0	3330	623	22	4	781	4	CHD7	8	61654770	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	470	61654770	84709252	642	89795											
CHD7	55636	broad.mit.edu	37	chr8	61764728	61764728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctaatgaagactgaccGgcgcagacggcggcctcgag	15	13	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:61764728G>A	uc003xue.2	+	29	6293	c.5816G>A	c.(5815-5817)CGG>CAG	p.R1939Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1939	Poly-Arg.				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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			AAGACTGACCGGCGCAGACGG	0.522													A	61764728	G	A	61764728	3	1	165	1	0	0	0	0	1	0	0	0	3330	1116	39	1	5926	1	CHD7	8	61764728	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	109958	61764728	84599294	643	89796											
PDE7A	5150	broad.mit.edu	37	chr8	66635840	66635840	+	Frame_Shift_Del	DEL	T	T	-													ggactcacacccaaatgataTtttttttctatatctcctat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:66635839_66635839AT>A	uc003xvq.3	-	11	1406	c.1180_1180AT>T	c.(1180-1182)tatfs	p.Y394fs	PDE7A_uc003xvr.3_Frame_Shift_Del_p.Y394fs|PDE7A_uc003xvp.3_Frame_Shift_Del_p.Y368fs	NM_001242318	NP_001229247	Q13946	PDE7A_HUMAN	Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA.	394	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)	CCCAAATGATATTTTTTTTCT	0.294													-	66635840	T	-	66635840	7	5	165	1	0	1	0	1	0	0	0	0	11651	1490	52	0	309	0	PDE7A	8	66635840	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	4871112	66635840	79728182	644	89797											
C8orf45	157777	broad.mit.edu	37	chr8	67793093	67793093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataattttagatgaatcagTgaataaaatgaatataggaa	7	1	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:67793093T>C	uc003xwz.3	+	8	890	c.719T>C	c.(718-720)GTG>GCG	p.V240A	C8orf45_uc003xwv.2_Missense_Mutation_p.V240A|C8orf45_uc011lev.1_Missense_Mutation_p.V240A|C8orf45_uc011lew.1_Missense_Mutation_p.V171A|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.V240A	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	240					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GATGAATCAGTGAATAAAATG	0.279													C	67793093	T	C	67793093	3	2	165	1	0	0	0	0	1	0	0	0	2430	1696	59	3	745	3	C8orf45	8	67793093	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1157253	67793093	78570929	645	89798											
COPS5	10987	broad.mit.edu	37	chr8	67963489	67963489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagctagaagaactcaaCgtattcacccagtatttatt	6	9	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:67963489C>T	uc003xxe.2	-	6	1078	c.747G>A	c.(745-747)ACG>ACA	p.T249T	COPS5_uc003xxd.2_Silent_p.T185T|COPS5_uc003xxf.2_Silent_p.T294T|COPS5_uc010lyu.1_RNA|COPS5_uc010lyv.1_Silent_p.T249T	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	249					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGAACTCAACGTATTCACCC	0.323													T	67963489	C	T	67963489	2	4	165	1	0	0	0	0	0	0	0	1	3736	523	19	1		1	COPS5	8	67963489	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	170396	67963489	78400533	646	89799											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744651	70744651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagccccgccgaagtggaCggggcagagggactgggggc	20	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:70744651C>T	uc003xyl.2	-	2	965	c.258G>A	c.(256-258)CCG>CCA	p.P86P	SLCO5A1_uc010lzb.2_Silent_p.P86P|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.P86P|SLCO5A1_uc010lzc.2_Silent_p.P86P	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	86	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCGAAGTGGACGGGGCAGAGG	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70744651	C	T	70744651	2	4	165	1	0	0	0	0	0	0	0	1	14731	523	19	1		1	SLCO5A1	8	70744651	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2781162	70744651	75619371	647	89800											
TMEM70	54968	broad.mit.edu	37	chr8	74893786	74893786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatatccatctaatgggttAtgacaaagaagaatttattt	6	5	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:74893786A>G	uc003yab.2	+	3	800	c.713A>G	c.(712-714)TAT>TGT	p.Y238C	TMEM70_uc003yac.2_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	transmembrane protein 70 isoform a	238					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				ovary(1)	1	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTAATGGGTTATGACAAAGAA	0.338													G	74893786	A	G	74893786	3	3	165	1	0	0	0	0	1	0	0	0	16196	449	16	3	731	3	TMEM70	8	74893786	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4149135	74893786	71470236	648	89801											
JPH1	56704	broad.mit.edu	37	chr8	75227418	75227418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgtggtggtggcgtccaCgtggtcttccaccgggcaaa	14	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:75227418C>T	uc003yae.2	-	2	857	c.817G>A	c.(817-819)GTG>ATG	p.V273M	JPH1_uc003yaf.2_Missense_Mutation_p.V273M|JPH1_uc003yag.1_Missense_Mutation_p.V137M	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	273	Cytoplasmic (Potential).				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				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGGCGTCCACGTGGTCTTCC	0.567													T	75227418	C	T	75227418	3	4	165	1	0	0	0	0	1	0	0	0	7960	536	19	1	1184	1	JPH1	8	75227418	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	333632	75227418	71136604	649	89802											
ZFHX4	79776	broad.mit.edu	37	chr8	77776241	77776241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgttatttcggtcagCctttgattgacccacaagag	8	11	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:77776241C>T	uc003yav.2	+	11	10543	c.10156C>T	c.(10156-10158)CCT>TCT	p.P3386S		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3382						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCGGTCAGCCTTTGATTGA	0.438										HNSCC(33;0.089)			T	77776241	C	T	77776241	3	4	165	1	0	0	0	0	1	0	0	0	17632	739	26	2	10329	2	ZFHX4	8	77776241	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2548823	77776241	68587781	650	89803											
CA3	761	broad.mit.edu	37	chr8	86358463	86358463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctcattcaccacgccGccctgcgaggaatgcattgt	11	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:86358463G>A	uc003ydj.2	+	6	683	c.600G>A	c.(598-600)CCG>CCA	p.P200P	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	200					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						TCACCACGCCGCCCTGCGAGG	0.597													A	86358463	G	A	86358463	2	1	165	1	0	0	0	0	0	0	0	1	2517	1074	38	1		1	CA3	8	86358463	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	8582222	86358463	60005559	651	89804											
RBM12B	389677	broad.mit.edu	37	chr8	94747516	94747516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctctctctagtgaccctgAtctcttcttttcataacgtg	5	12	5	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:94747516A>C	uc003yfz.2	-	3	1316	c.1123T>G	c.(1123-1125)TCA>GCA	p.S375A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	375							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTGACCCTGATCTCTTCTTT	0.368													C	94747516	A	C	94747516	3	2	165	1	0	0	0	0	1	0	0	0	13114	333	12	5	1886	5	RBM12B	8	94747516	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	8389053	94747516	51616506	652	89805											
CDH17	1015	broad.mit.edu	37	chr8	95174358	95174358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcattgatatcaataaCgttgatttgcacaaaacaaa	5	7	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:95174358C>T	uc003ygh.2	-	11	1440	c.1315G>A	c.(1315-1317)GTT>ATT	p.V439I	CDH17_uc011lgo.1_Missense_Mutation_p.V225I|CDH17_uc011lgp.1_Missense_Mutation_p.V439I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	439	Extracellular (Potential).|Cadherin 4.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATATCAATAACGTTGATTTGC	0.303													T	95174358	C	T	95174358	3	4	165	1	0	0	0	0	1	0	0	0	3102	536	19	1	1215	1	CDH17	8	95174358	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	426842	95174358	51189664	653	89806											
GEM	2669	broad.mit.edu	37	chr8	95272654	95272654	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatcagatgcctgccatcAgctgggatgctccagcgctg	11	14	2	1	rs151310883	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:95272654A>G	uc003ygj.2	-	2	327	c.78T>C	c.(76-78)GCT>GCC	p.A26A	GEM_uc003ygi.2_Silent_p.A26A	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	26					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			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCCTGCCATCAGCTGGGATGC	0.607													G	95272654	A	G	95272654	2	3	165	1	0	0	0	0	0	0	0	1	6329	175	7	3		3	GEM	8	95272654	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	98296	95272654	51091368	654	89807											
INTS8	55656	broad.mit.edu	37	chr8	95853732	95853733	+	Frame_Shift_Ins	INS	-	-	T													ttctaggaggtaatacagatINStttcattgaagacaacttaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:95853731_95853732A>AT	uc003yhb.3	+	8	1156_1157	c.1030_1031A>AT	c.(1030-1032)attfs	p.I344fs	INTS8_uc003yha.1_Frame_Shift_Ins_p.I344fs|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Frame_Shift_Ins_p.I171fs	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	344					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)					GGTAATACAGATTTTCATTGAA	0.347													T	95853733	-	T	95853732	7	5	165	1	0	1	1	0	0	0	0	0	7784	1493	52	0	1065	0	INTS8	8	95853732	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	581078	95853732	50510290	655	89808											
VPS13B	157680	broad.mit.edu	37	chr8	100836166	100836166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatatcaaatattttataAaccacagctatctgtctgca	3	10	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:100836166A>G	uc003yiv.2	+	51	9476	c.9365A>G	c.(9364-9366)AAA>AGA	p.K3122R	VPS13B_uc003yiw.2_Missense_Mutation_p.K3097R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3122					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATTTTATAAACCACAGCTA	0.328													G	100836166	A	G	100836166	3	3	165	1	0	0	0	0	1	0	0	0	17187	14	1	3	9757	3	VPS13B	8	100836166	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4982434	100836166	45527856	656	89809											
FBXO43	286151	broad.mit.edu	37	chr8	101154105	101154105	+	Frame_Shift_Del	DEL	T	T	-													ttctaggcaagatacatttcTttttttgagtgggagattct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:101154104_101154104CT>C	uc003yjd.3	-	1	1114	c.378_378AG>G	c.(376-378)aagfs	p.K126fs	FBXO43_uc003yje.3_Frame_Shift_Del_p.K92fs|FBXO43_uc010mbp.2_Frame_Shift_Del_p.K126fs	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	126					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGATACATTTCTTTTTTTGAG	0.393													-	101154105	T	-	101154105	7	5	165	1	0	1	0	1	0	0	0	0	5752	1609	56	0	1765	0	FBXO43	8	101154105	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	317939	101154105	45209917	657	89810											
SPAG1	6674	broad.mit.edu	37	chr8	101232551	101232551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaaacctcttctgaggcGggcgatggcctatgaaactc	11	10	2	3	rs150325048		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:101232551G>A	uc003yjh.1	+	13	1666	c.1580G>A	c.(1579-1581)CGG>CAG	p.R527Q	SPAG1_uc003yji.1_Missense_Mutation_p.R527Q	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	527	TPR 6.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	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)		CTTCTGAGGCGGGCGATGGCC	0.398													A	101232551	G	A	101232551	3	1	165	1	0	0	0	0	1	0	0	0	14975	1116	39	1	1626	1	SPAG1	8	101232551	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	78446	101232551	45131471	658	89811											
GRHL2	79977	broad.mit.edu	37	chr8	102571012	102571012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccggacagcacatacaGcgagagcttcaaggacgcag	11	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:102571012G>A	uc010mbu.2	+	4	980	c.650G>A	c.(649-651)AGC>AAC	p.S217N	GRHL2_uc011lhi.1_Missense_Mutation_p.S217N	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	217						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	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)			AGCACATACAGCGAGAGCTTC	0.547													A	102571012	G	A	102571012	3	1	165	1	0	0	0	0	1	0	0	0	6764	971	34	2	664	2	GRHL2	8	102571012	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1338461	102571012	43793010	659	89812											
FZD6	8323	broad.mit.edu	37	chr8	104312361	104312361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtttacatttttgttgaCgtgtatttttctacccctcc	5	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:104312361C>T	uc003ylh.2	+	2	310	c.26C>T	c.(25-27)ACG>ATG	p.T9M	FZD6_uc003yli.2_Missense_Mutation_p.T9M|FZD6_uc003ylj.2_Missense_Mutation_p.T9M|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Translation_Start_Site|FZD6_uc011lhp.1_Translation_Start_Site	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	9					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)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTTTGTTGACGTGTATTTTT	0.398													T	104312361	C	T	104312361	3	4	165	1	0	0	0	0	1	0	0	0	6134	536	19	1	28	1	FZD6	8	104312361	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1741349	104312361	42051661	660	89813											
RIMS2	9699	broad.mit.edu	37	chr8	105105763	105105763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactaaatcttcggacagtgAtgtaagtgatatatctgcgg	10	6	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:105105763A>G	uc003yls.2	+	21	3027	c.2786A>G	c.(2785-2787)GAT>GGT	p.D929G	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.D1002G|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCGGACAGTGATGTAAGTGAT	0.438										HNSCC(12;0.0054)			G	105105763	A	G	105105763	3	3	165	1	0	0	0	0	1	0	0	0	13368	348	12	3		3	RIMS2	8	105105763	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	793402	105105763	41258259	661	89814											
EIF3H	8667	broad.mit.edu	37	chr8	117671196	117671196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttacatggcgaaggctccGcatcatttccatctgatatt	8	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:117671196G>A	uc003yoa.2	-	3	339	c.313C>T	c.(313-315)CGG>TGG	p.R105W	EIF3H_uc003yob.2_Missense_Mutation_p.R119W|EIF3H_uc011lhz.1_Missense_Mutation_p.R105W	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	105	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CGAAGGCTCCGCATCATTTCC	0.428													A	117671196	G	A	117671196	3	1	165	1	0	0	0	0	1	0	0	0	5018	1086	38	1	769	1	EIF3H	8	117671196	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	12565433	117671196	28692826	662	89815											
SAMD12	401474	broad.mit.edu	37	chr8	119391937	119391937	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaagtctcagcagggctcGccctgcagggttttaagaaa	12	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:119391937G>A	uc003yom.2	-	4	454	c.325C>T	c.(325-327)CGA>TGA	p.R109*	SAMD12_uc010mda.1_Nonsense_Mutation_p.R109*|SAMD12_uc010mdb.1_RNA	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12 isoform	109	SAM.									ovary(1)	1	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGCAGGGCTCGCCCTGCAGGG	0.473													A	119391937	G	A	119391937	4	1	165	1	0	0	0	0	0	1	0	0	13817	1095	38	1	311	1	SAMD12	8	119391937	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1720741	119391937	26972085	663	89816											
ANXA13	312	broad.mit.edu	37	chr8	124714949	124714949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtcctgcccgataagAtttcaatgatggctgcttca	9	10	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:124714949A>G	uc003yqu.2	-	3	192	c.119T>C	c.(118-120)ATC>ACC	p.I40T	ANXA13_uc003yqt.2_Missense_Mutation_p.I81T	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	40	Annexin 1.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCCGATAAGATTTCAATGAT	0.453													G	124714949	A	G	124714949	3	3	165	1	0	0	0	0	1	0	0	0	717	333	12	3	867	3	ANXA13	8	124714949	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5323012	124714949	21649073	664	89817											
ASAP1	50807	broad.mit.edu	37	chr8	131149216	131149217	+	Frame_Shift_Ins	INS	-	-	T													gtgatatcaggtcaaaagatINStttttgtcttcggcattagg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:131149215_131149216A>AT	uc003yta.2	-	13	1377_1378	c.1149_1150T>AT	c.(1147-1152)aaatctfs	p.K383fs	ASAP1_uc003ysz.2_Frame_Shift_Ins_p.K194fs|ASAP1_uc011liw.2_Frame_Shift_Ins_p.K376fs	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	383	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|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						AGGTCAAAAGATTTTTTGTCTT	0.421													T	131149217	-	T	131149216	7	5	165	1	0	1	1	0	0	0	0	0	1010	1490	52	0	2308	0	ASAP1	8	131149216	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	6434267	131149216	15214806	665	89818											
EFR3A	23167	broad.mit.edu	37	chr8	132989340	132989340	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagatctttgcttatgGtaaggcatttaagacaaata	9	5	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:132989340G>T	uc003yte.2	+	12	1527	c.1326_splice	c.e12+1	p.M442_splice		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A							plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	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)			TTTGCTTATGGTAAGGCATTT	0.294													T	132989340	G	T	132989340	5	4	165	1	0	0	0	0	0	0	1	0	4958	1275	44	5	1373	5	EFR3A	8	132989340	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1840124	132989340	13374682	666	89819											
KCNQ3	3786	broad.mit.edu	37	chr8	133141583	133141583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgacagaggcatggagcCgctgggcgtgaaggggtccg	20	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:133141583C>T	uc003ytj.2	-	15	2770	c.2545G>A	c.(2545-2547)GGC>AGC	p.G849S	KCNQ3_uc010mdt.2_Missense_Mutation_p.G837S|uc003yti.2_5'Flank	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	849					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCATGGAGCCGCTGGGCGTG	0.582													T	133141583	C	T	133141583	3	4	165	1	0	0	0	0	1	0	0	0	8084	652	23	1	77	1	KCNQ3	8	133141583	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	152243	133141583	13222439	667	89820											
TG	7038	broad.mit.edu	37	chr8	133919026	133919026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaggctctgccatgcAgcagtgccaattgctgtgcc	10	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:133919026A>G	uc003ytw.2	+	17	3769	c.3728A>G	c.(3727-3729)CAG>CGG	p.Q1243R	TG_uc010mdw.2_Missense_Mutation_p.Q2R	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1243					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TCTGCCATGCAGCAGTGCCAA	0.627													G	133919026	A	G	133919026	3	3	165	1	0	0	0	0	1	0	0	0	15810	188	7	3	3794	3	TG	8	133919026	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	777443	133919026	12444996	668	89821											
TG	7038	broad.mit.edu	37	chr8	134144191	134144191	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccacttcatcagatcaggGtaattttggaccacttgttc	7	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:134144191G>T	uc003ytw.2	+	46	8038	c.7997_splice	c.e46+1	p.G2666_splice	TG_uc010mdw.2_Splice_Site_p.G1425_splice|TG_uc011ljb.1_Splice_Site_p.G1035_splice|TG_uc011ljc.1_Splice_Site_p.G799_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TCAGATCAGGGTAATTTTGGA	0.488													T	134144191	G	T	134144191	5	4	165	1	0	0	0	0	0	0	1	0	15810	1275	44	5	8180	5	TG	8	134144191	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	225165	134144191	12219831	669	89822											
WISP1	8840	broad.mit.edu	37	chr8	134232898	134232898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttccagcctaactgcaagTacaactgcacgtgcatcgac	7	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:134232898T>C	uc003yub.2	+	3	500	c.424T>C	c.(424-426)TAC>CAC	p.Y142H	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	142	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)|kidney(1)	2	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)			TAACTGCAAGTACAACTGCAC	0.672													C	134232898	T	C	134232898	3	2	165	1	0	0	0	0	1	0	0	0	17369	1638	57	3	434	3	WISP1	8	134232898	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	88707	134232898	12131124	670	89823											
WISP1	8840	broad.mit.edu	37	chr8	134233083	134233083	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgtgacacaggagccttCggtgggtgtgggcccgagtg	17	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:134233083C>T	uc003yub.2	+	3	685	c.609C>T	c.(607-609)TTC>TTT	p.F203F	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	203					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)|kidney(1)	2	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)			CAGGAGCCTTCGGTGGGTGTG	0.622													T	134233083	C	T	134233083	2	4	165	1	0	0	0	0	0	0	0	1	17369	898	31	1		1	WISP1	8	134233083	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	185	134233083	12130939	671	89824											
FAM135B	51059	broad.mit.edu	37	chr8	139190804	139190804	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgtggtgttcctgggtgaGataagtggtcacttgggagt	18	4	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:139190804G>T	uc003yuy.2	-	10	1174	c.1003C>A	c.(1003-1005)CTC>ATC	p.L335I	FAM135B_uc003yux.2_Missense_Mutation_p.L236I|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	335										ovary(7)|skin(2)	9	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)			TCCTGGGTGAGATAAGTGGTC	0.507										HNSCC(54;0.14)			T	139190804	G	T	139190804	3	4	165	1	0	0	0	0	1	0	0	0	5449	942	33	5	3261	5	FAM135B	8	139190804	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4957721	139190804	7173218	672	89825											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321391	141321391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccggtggcagggtgagGccgccagggagggcgatggg	23	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:141321391G>A	uc003yvj.2	-	10	1712	c.1578C>T	c.(1576-1578)GGC>GGT	p.G526G	TRAPPC9_uc003yvh.2_Silent_p.G624G|TRAPPC9_uc003yvi.1_Silent_p.G517G	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	526					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						GCAGGGTGAGGCCGCCAGGGA	0.582													A	141321391	G	A	141321391	2	1	165	1	0	0	0	0	0	0	0	1	16462	1190	42	2		2	TRAPPC9	8	141321391	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2130587	141321391	5042631	673	89826											
BAI1	575	broad.mit.edu	37	chr8	143602199	143602199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtacattcgctcagaGcgttctgtcatcctcatcaa	7	13	5	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:143602199G>A	uc003ywm.2	+	19	3120	c.2937G>A	c.(2935-2937)GAG>GAA	p.E979E		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	979	Cytoplasmic (Potential).				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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					TTCGCTCAGAGCGTTCTGTCA	0.582													A	143602199	G	A	143602199	2	1	165	1	0	0	0	0	0	0	0	1	1298	962	34	2		2	BAI1	8	143602199	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2280808	143602199	2761823	674	89827											
LY6D	8581	broad.mit.edu	37	chr8	143867013	143867013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctacccacctgtgttcGtggtcttgcagaagcgagag	13	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:143867013G>A	uc003yxf.1	-	2	219	c.143C>T	c.(142-144)ACG>ATG	p.T48M		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	48	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	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)					ACCTGTGTTCGTGGTCTTGCA	0.642													A	143867013	G	A	143867013	3	1	165	1	0	0	0	0	1	0	0	0	9090	1145	40	1	251	1	LY6D	8	143867013	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	264814	143867013	2497009	675	89828											
MAPK15	225689	broad.mit.edu	37	chr8	144803816	144803816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggccccctggggcgaaGgaagcgccccccttgacact	13	15	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144803816G>T	uc003yzj.2	+	12	1343	c.1302G>T	c.(1300-1302)AAG>AAT	p.K434N		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	434					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	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)			CTGGGGCGAAGGAAGCGCCCC	0.637													T	144803816	G	T	144803816	3	4	165	1	0	0	0	0	1	0	0	0	9277	991	35	5	1348	5	MAPK15	8	144803816	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	936803	144803816	1560206	676	89829											
FAM83H	286077	broad.mit.edu	37	chr8	144811445	144811445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccgcggcctccagcacttCgctgagcaggtccacatcag	12	16	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144811445C>T	uc003yzk.2	-	3	565	c.496G>A	c.(496-498)GAA>AAA	p.E166K	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	166					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			TCCAGCACTTCGCTGAGCAGG	0.637													T	144811445	C	T	144811445	3	4	165	1	0	0	0	0	1	0	0	0	5640	893	31	1	3055	1	FAM83H	8	144811445	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7629	144811445	1552577	677	89830											
NRBP2	340371	broad.mit.edu	37	chr8	144921062	144921062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggggcagtacctccagcGcacacatcccaaaggagaag	13	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144921062G>A	uc011lkt.1	-	9	877	c.737C>T	c.(736-738)GCG>GTG	p.A246V	NRBP2_uc003yzv.2_Missense_Mutation_p.A3V|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Missense_Mutation_p.A3V|NRBP2_uc011lks.1_Missense_Mutation_p.A3V|NRBP2_uc003yzy.2_Missense_Mutation_p.A3V	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	246	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	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)			TACCTCCAGCGCACACATCCC	0.622													A	144921062	G	A	144921062	3	1	165	1	0	0	0	0	1	0	0	0	10643	1087	38	1	808	1	NRBP2	8	144921062	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	109617	144921062	1442960	678	89831											
EPPK1	83481	broad.mit.edu	37	chr8	144944907	144944907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgctgaagtactcagAgttgatcagctcccacgcgg	11	14	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144944907A>C	uc003zaa.1	-	1	2528	c.2515T>G	c.(2515-2517)TCT>GCT	p.S839A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	839						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			AAGTACTCAGAGTTGATCAGC	0.652													C	144944907	A	C	144944907	3	2	165	1	0	0	0	0	1	0	0	0	5190	304	11	5	4751	5	EPPK1	8	144944907	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	23845	144944907	1419115	679	89832											
PLEC	5339	broad.mit.edu	37	chr8	144993950	144993950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcagcagcgtccgcaCggagcccagctccgaaaggt	13	16	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:144993950C>T	uc003zaf.1	-	32	10620	c.10450G>A	c.(10450-10452)GTG>ATG	p.V3484M	PLEC_uc003zab.1_Missense_Mutation_p.V3347M|PLEC_uc003zac.1_Missense_Mutation_p.V3351M|PLEC_uc003zad.2_Missense_Mutation_p.V3347M|PLEC_uc003zae.1_Missense_Mutation_p.V3315M|PLEC_uc003zag.1_Missense_Mutation_p.V3325M|PLEC_uc003zah.2_Missense_Mutation_p.V3333M|PLEC_uc003zaj.2_Missense_Mutation_p.V3374M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3484	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCGTCCGCACGGAGCCCAGC	0.657													T	144993950	C	T	144993950	3	4	165	1	0	0	0	0	1	0	0	0	12052	536	19	1	3608	1	PLEC	8	144993950	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	49043	144993950	1370072	680	89833											
HEATR7A	727957	broad.mit.edu	37	chr8	145278100	145278100	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcgatgatcgagtacatCgtgcagcagtgcgcgctgcc	15	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145278100C>T	uc003zbk.3	+	14	1542	c.1305C>T	c.(1303-1305)ATC>ATT	p.I435I	HEATR7A_uc011lla.1_Silent_p.I435I|HEATR7A_uc010mft.2_Silent_p.I435I	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	435							binding				0						TCGAGTACATCGTGCAGCAGT	0.662													T	145278100	C	T	145278100	2	4	165	1	0	0	0	0	0	0	0	1	7034	874	31	1		1	HEATR7A	8	145278100	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	284150	145278100	1085922	681	89834											
HSF1	3297	broad.mit.edu	37	chr8	145537675	145537675	+	Frame_Shift_Del	DEL	C	C	-													agctcctgtctccccaggagCcccccaggcctcccgaggca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145537674_145537674GC>G	uc003zbt.4	+	11	1511	c.1341_1341GC>G	c.(1339-1341)gagfs	p.E447fs	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	447	Transactivation 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)			CTCCCCAGGAGCCCCCCAGGC	0.682													-	145537675	C	-	145537675	7	5	165	1	0	1	0	1	0	0	0	0	7395	739	26	0	1388	0	HSF1	8	145537675	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	259575	145537675	826347	682	89835											
NFKBIL2	4796	broad.mit.edu	37	chr8	145667679	145667679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcttcctcatggtgtgcGcacactcccgggcaccctcc	9	19	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145667679G>A	uc011llg.1	-	6	710	c.695C>T	c.(694-696)GCG>GTG	p.A232V		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	232	TPR 5.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			CATGGTGTGCGCACACTCCCG	0.647													A	145667679	G	A	145667679	3	1	165	1	0	0	0	0	1	0	0	0	10382	1087	38	1	3525	1	NFKBIL2	8	145667679	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	130004	145667679	696343	683	89836											
PPP1R16A	84988	broad.mit.edu	37	chr8	145725483	145725483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtcttccctgcagtggcGccaatctcctggcggtcaac	10	16	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145725483G>A	uc003zdd.2	+	5	1394	c.481G>A	c.(481-483)GCC>ACC	p.A161T	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.A161T|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	161	ANK 3.					plasma membrane	protein binding				0	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)			CTGCAGTGGCGCCAATCTCCT	0.657													A	145725483	G	A	145725483	3	1	165	1	0	0	0	0	1	0	0	0	12365	1087	38	1	495	1	PPP1R16A	8	145725483	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	57804	145725483	638539	684	89837											
ARHGAP39	80728	broad.mit.edu	37	chr8	145830920	145830920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcggtcggctccttacCgagtgttcgaccctggaatc	12	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:145830920C>T	uc003zdt.1	-	3	635	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	ARHGAP39_uc011llk.1_Missense_Mutation_p.R27Q|ARHGAP39_uc003zds.1_Missense_Mutation_p.R27Q	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	27	WW 1.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGCTCCTTACCGAGTGTTCGA	0.602													T	145830920	C	T	145830920	3	4	165	1	0	0	0	0	1	0	0	0	884	666	23	1	3308	1	ARHGAP39	8	145830920	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	105437	145830920	533102	685	89838											
ZNF7	7553	broad.mit.edu	37	chr8	146067087	146067087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagggatgtcccagagatgcGaggagtgtggcaaaggcatc	16	7	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:146067087G>A	uc003zeg.3	+	5	732	c.595G>A	c.(595-597)GAG>AAG	p.E199K	ZNF7_uc010mge.2_Missense_Mutation_p.E210K|ZNF7_uc011lln.1_Missense_Mutation_p.E103K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.E103K|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	199					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	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)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	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)	GBM - Glioblastoma multiforme(99;2.11e-07)		CCAGAGATGCGAGGAGTGTGG	0.502													A	146067087	G	A	146067087	3	1	165	1	0	0	0	0	1	0	0	0	18099	1059	37	1	609	1	ZNF7	8	146067087	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	236167	146067087	296935	686	89839											
C8orf33	65265	broad.mit.edu	37	chr8	146278736	146278736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaaaagaacgcccttgCcccggaagaggcagctgatg	13	12	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr8:146278736C>T	uc003zfc.3	+	4	511	c.457C>T	c.(457-459)CCC>TCC	p.P153S	C8orf33_uc003zfd.2_RNA	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	153											0	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)		AACGCCCTTGCCCCGGAAGAG	0.537													T	146278736	C	T	146278736	3	4	165	1	0	0	0	0	1	0	0	0	2421	739	26	2	471	2	C8orf33	8	146278736	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	211649	146278736	85286	687	89840											
RFX3	5991	broad.mit.edu	37	chr9	3257056	3257056	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactgggtcttccttcataGggtttcagtgcttgcatcat	9	9	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:3257056G>T	uc003zhr.2	-	15	2061	c.1749C>A	c.(1747-1749)CCC>CCA	p.P583P	RFX3_uc010mhd.2_Silent_p.P583P|RFX3_uc003zhs.1_Silent_p.P583P	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	583					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			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCCTTCATAGGGTTTCAGTG	0.468													T	3257056	G	T	3257056	2	4	165	1	0	0	0	0	0	0	0	1	13264	987	35	5		5	RFX3	9	3257056	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08		3257056	137956375	688	89841											
GLIS3	169792	broad.mit.edu	37	chr9	3828391	3828391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagaggctcgaggaacTtgaaggtaaatcatacactg	10	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:3828391T>C	uc003zhw.1	-	10	2403	c.2209A>G	c.(2209-2211)AGT>GGT	p.S737G	GLIS3_uc003zhx.1_Missense_Mutation_p.S892G|GLIS3_uc010mhf.1_Missense_Mutation_p.S286G|GLIS3_uc003zhv.1_RNA	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	737					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			ovary(1)	1		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)		CTCGAGGAACTTGAAGGTAAA	0.537													C	3828391	T	C	3828391	3	2	165	1	0	0	0	0	1	0	0	0	6447	1609	56	3	122	3	GLIS3	9	3828391	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	571335	3828391	137385040	689	89842											
JAK2	3717	broad.mit.edu	37	chr9	5022214	5022214	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcttctaaagcttgtgGtaagtattaaaaaacagcat	8	6	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:5022214G>A	uc010mhm.2	+	2	339	c.226_splice	c.e2+1	p.G76_splice	JAK2_uc003ziw.2_Splice_Site_p.G76_splice	NM_004972	NP_004963	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		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	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)		AAAGCTTGTGGTAAGTATTAA	0.323		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5022214	G	A	5022214	5	1	165	1	0	0	0	0	0	0	1	0	7938	1275	44	4	229	4	JAK2	9	5022214	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1193823	5022214	136191217	690	89843											
FREM1	158326	broad.mit.edu	37	chr9	14851500	14851500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtagtcaaggaggtcaGgatgaactgatccacttcca	11	8	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:14851500G>T	uc003zlm.2	-	6	1524	c.934C>A	c.(934-936)CTG>ATG	p.L312M	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	312	CSPG 1.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGAGGTCAGGATGAACTGA	0.488													T	14851500	G	T	14851500	3	4	165	1	0	0	0	0	1	0	0	0	6044	991	35	5	5783	5	FREM1	9	14851500	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	9829286	14851500	126361931	691	89844											
KIAA1797	54914	broad.mit.edu	37	chr9	20789392	20789392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaccagtatgtatggtAcaatatttacagcctggagg	10	7	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:20789392A>G	uc003zog.1	+	13	1603	c.1240A>G	c.(1240-1242)ACA>GCA	p.T414A		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	414	Helical; (Potential).					integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TATGTATGGTACAATATTTAC	0.393													G	20789392	A	G	20789392	3	3	165	1	0	0	0	0	1	0	0	0	8258	391	14	3	1278	3	KIAA1797	9	20789392	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5937892	20789392	120424039	692	89845											
C9orf82	79886	broad.mit.edu	37	chr9	26842611	26842611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgtcataagcatctgcAtttatactgagtacatcact	6	10	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:26842611A>G	uc003zqc.2	-	6	786	c.774T>C	c.(772-774)AAT>AAC	p.N258N	C9orf82_uc003zqb.2_Silent_p.N113N	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	258											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AAGCATCTGCATTTATACTGA	0.433													G	26842611	A	G	26842611	2	3	165	1	0	0	0	0	0	0	0	1	2499	214	8	3		3	C9orf82	9	26842611	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	6053219	26842611	114370820	693	89846											
ACO1	48	broad.mit.edu	37	chr9	32418455	32418455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attattacccagacagcctcGtgggcacagactcgcacact	8	14	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32418455G>A	uc003zqw.3	+	6	759	c.604G>A	c.(604-606)GTG>ATG	p.V202M	ACO1_uc010mjh.1_Missense_Mutation_p.V36M|ACO1_uc003zqx.3_Missense_Mutation_p.V202M|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	202					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				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGACAGCCTCGTGGGCACAGA	0.458													A	32418455	G	A	32418455	3	1	165	1	0	0	0	0	1	0	0	0	146	1145	40	1	622	1	ACO1	9	32418455	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5575844	32418455	108794976	694	89847											
ACO1	48	broad.mit.edu	37	chr9	32436322	32436322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcacggggaacatttgCcaacattcgcttgttaaaca	9	10	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32436322C>T	uc003zqw.3	+	18	2329	c.2174C>T	c.(2173-2175)GCC>GTC	p.A725V	ACO1_uc010mjh.1_3'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.A725V|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	725					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				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGAACATTTGCCAACATTCGC	0.493													T	32436322	C	T	32436322	3	4	165	1	0	0	0	0	1	0	0	0	146	739	26	2	2240	2	ACO1	9	32436322	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	17867	32436322	108777109	695	89848											
TAF1L	138474	broad.mit.edu	37	chr9	32631546	32631546	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcaattagctgtttcccGaagacaattttggtcccttc	6	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32631546G>A	uc003zrg.1	-	1	4122	c.4032C>T	c.(4030-4032)TTC>TTT	p.F1344F	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1344					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTGTTTCCCGAAGACAATTT	0.428													A	32631546	G	A	32631546	2	1	165	1	0	0	0	0	0	0	0	1	15520	1049	37	1		1	TAF1L	9	32631546	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	195224	32631546	108581885	696	89849											
TAF1L	138474	broad.mit.edu	37	chr9	32632408	32632408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcccctctccagaaTgagcctgttctgttgacatt	9	12	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:32632408T>C	uc003zrg.1	-	1	3260	c.3170A>G	c.(3169-3171)CAT>CGT	p.H1057R	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1057					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCTCCAGAATGAGCCTGTTC	0.468													C	32632408	T	C	32632408	3	2	165	1	0	0	0	0	1	0	0	0	15520	1464	51	3	2314	3	TAF1L	9	32632408	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	862	32632408	108581023	697	89850											
RECK	8434	broad.mit.edu	37	chr9	36118810	36118810	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgagacctacagcagTgtgtgtgctgcctactcgga	13	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:36118810T>G	uc003zyv.2	+	18	2396	c.2310T>G	c.(2308-2310)AGT>AGG	p.S770R	RECK_uc003zyw.2_Missense_Mutation_p.S642R|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	770	Kazal-like 3.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CCTACAGCAGTGTGTGTGCTG	0.557													G	36118810	T	G	36118810	3	3	165	1	0	0	0	0	1	0	0	0	13200	1693	59	5	2380	5	RECK	9	36118810	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3486402	36118810	105094621	698	89851											
MELK	9833	broad.mit.edu	37	chr9	36589613	36589613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgtcaactctaccatgtGctagagacagccaacaaaat	6	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:36589613G>A	uc003zzn.2	+	4	363	c.225G>A	c.(223-225)GTG>GTA	p.V75V	MELK_uc011lpm.1_5'UTR|MELK_uc011lpn.1_Silent_p.V75V|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.V43V|MELK_uc011lpp.1_Silent_p.V75V|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.V75V|MELK_uc011lps.1_Silent_p.V43V	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	75	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TCTACCATGTGCTAGAGACAG	0.383													A	36589613	G	A	36589613	2	1	165	1	0	0	0	0	0	0	0	1	9470	1306	46	2		2	MELK	9	36589613	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	470803	36589613	104623818	699	89852											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	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			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	165	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	34403532	70993145	70220286	700	89853											
ANXA1	301	broad.mit.edu	37	chr9	75784009	75784009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgttctgaaattgacaTgaatgatatcaaagcattct	6	8	3	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:75784009T>C	uc004ajf.1	+	12	997	c.923T>C	c.(922-924)ATG>ACG	p.M308T	ANXA1_uc004aje.1_Missense_Mutation_p.M308T|ANXA1_uc004ajg.1_Missense_Mutation_p.M308T	NM_000700	NP_000691	P04083	ANXA1_HUMAN	annexin I	308	Annexin 4.				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)	2		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)	GAAATTGACATGAATGATATC	0.403													C	75784009	T	C	75784009	3	2	165	1	0	0	0	0	1	0	0	0	714	1464	51	3	965	3	ANXA1	9	75784009	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	4790864	75784009	65429422	701	89854											
TRPM6	140803	broad.mit.edu	37	chr9	77457094	77457094	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcaaaccttggcatgatgGgtgtgctctccatcttggaa	11	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:77457094G>T	uc004ajl.1	-	4	556	c.318C>A	c.(316-318)ACC>ACA	p.T106T	TRPM6_uc004ajk.1_Silent_p.T101T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.T106T|TRPM6_uc010mpd.1_Silent_p.T106T|TRPM6_uc010mpe.1_Silent_p.T106T|TRPM6_uc004ajn.1_Silent_p.T106T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	106	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TGGCATGATGGGTGTGCTCTC	0.299													T	77457094	G	T	77457094	2	4	165	1	0	0	0	0	0	0	0	1	16587	1219	43	5		5	TRPM6	9	77457094	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1673085	77457094	63756337	702	89855											
PRUNE2	158471	broad.mit.edu	37	chr9	79324209	79324209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttttgactcaaaacctTcctctttagcaaatggcttg	5	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:79324209T>C	uc010mpk.2	-	8	3105	c.2981A>G	c.(2980-2982)GAA>GGA	p.E994G		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	994					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTCAAAACCTTCCTCTTTAGC	0.448													C	79324209	T	C	79324209	3	2	165	1	0	0	0	0	1	0	0	0	12641	1783	62	3	6333	3	PRUNE2	9	79324209	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1867115	79324209	61889222	703	89856											
PRUNE2	158471	broad.mit.edu	37	chr9	79325181	79325181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcactggaactccacGcatctgcaatatttttggag	8	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:79325181G>A	uc010mpk.2	-	8	2133	c.2009C>T	c.(2008-2010)GCG>GTG	p.A670V		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	670					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GGAACTCCACGCATCTGCAAT	0.488													A	79325181	G	A	79325181	3	1	165	1	0	0	0	0	1	0	0	0	12641	1087	38	1	7305	1	PRUNE2	9	79325181	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	972	79325181	61888250	704	89857											
SEMA4D	10507	broad.mit.edu	37	chr9	92006308	92006308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggctttttcggatcacGtcagcaaacacgaaactagg	10	10	3	0	rs62638727	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:92006308G>A	uc004aqo.1	-	11	1217	c.645C>T	c.(643-645)GAC>GAT	p.D215D	SEMA4D_uc011ltm.1_Silent_p.D215D|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.D213D	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	215	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						TTCGGATCACGTCAGCAAACA	0.567													A	92006308	G	A	92006308	2	1	165	1	0	0	0	0	0	0	0	1	14034	1136	40	1		1	SEMA4D	9	92006308	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	12681127	92006308	49207123	705	89858											
NFIL3	4783	broad.mit.edu	37	chr9	94171822	94171822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactcagttctttttgatGccagtgctccgatttgagag	10	10	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:94171822G>A	uc004arh.2	-	2	1590	c.1195C>T	c.(1195-1197)CAT>TAT	p.H399Y		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	399					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				0						TCTTTTTGATGCCAGTGCTCC	0.408													A	94171822	G	A	94171822	3	1	165	1	0	0	0	0	1	0	0	0	10373	1319	46	2	197	2	NFIL3	9	94171822	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2165514	94171822	47041609	706	89859											
ROR2	4920	broad.mit.edu	37	chr9	94486449	94486449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcacattgctcactgggCtggtgctcagggagctggtc	14	11	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:94486449C>T	uc004arj.1	-	9	2526	c.2327G>A	c.(2326-2328)AGC>AAC	p.S776N	ROR2_uc004ari.1_Missense_Mutation_p.S636N	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	776	Ser/Thr-rich.|Cytoplasmic (Potential).				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GCTCACTGGGCTGGTGCTCAG	0.652													T	94486449	C	T	94486449	3	4	165	1	0	0	0	0	1	0	0	0	13527	797	28	2	508	2	ROR2	9	94486449	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	314627	94486449	46726982	707	89860											
FAM120A	23196	broad.mit.edu	37	chr9	96320140	96320140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaggtagagaagatgcGccagagcgtcctcgaggggc	16	10	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:96320140G>A	uc004atw.2	+	14	2541	c.2516G>A	c.(2515-2517)CGC>CAC	p.R839H	FAM120A_uc004aty.2_Missense_Mutation_p.R620H|FAM120A_uc004atz.2_Missense_Mutation_p.R488H|FAM120A_uc010mrg.2_Missense_Mutation_p.R152H	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	839	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						GAGAAGATGCGCCAGAGCGTC	0.577													A	96320140	G	A	96320140	3	1	165	1	0	0	0	0	1	0	0	0	5415	1087	38	1	2570	1	FAM120A	9	96320140	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1833691	96320140	44893291	708	89861											
SEC61B	10952	broad.mit.edu	37	chr9	101990194	101990194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaggaaaaatgccagcTgtgggacaaggagtgcaggc	14	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:101990194T>C	uc004azh.2	+	3	191	c.115T>C	c.(115-117)TGT>CGT	p.C39R		NM_006808	NP_006799	P60468	SC61B_HUMAN	Sec61 beta subunit	39	Cytoplasmic (Potential).			C->S: Abolishes S-acylation.	ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding				0		Acute lymphoblastic leukemia(62;0.0559)				AAATGCCAGCTGTGGGACAAG	0.448													C	101990194	T	C	101990194	3	2	165	1	0	0	0	0	1	0	0	0	14002	1580	55	3	125	3	SEC61B	9	101990194	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	5670054	101990194	39223237	709	89862											
OR13C3	138803	broad.mit.edu	37	chr9	107298417	107298417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgatatcaccatggtgatAatattgagggatatatcagc	9	5	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:107298417A>G	uc004bcb.1	-	1	678	c.678T>C	c.(676-678)ATT>ATC	p.I226I		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	226	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						CCATGGTGATAATATTGAGGG	0.388													G	107298417	A	G	107298417	2	3	165	1	0	0	0	0	0	0	0	1	10935	358	13	3		3	OR13C3	9	107298417	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5308223	107298417	33915014	710	89863											
TXNDC8	255220	broad.mit.edu	37	chr9	113091532	113091532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaattgttcacatccaCattagcaaaaaatacatttt	5	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:113091532C>T	uc004bes.2	-	3	218	c.169G>A	c.(169-171)GTG>ATG	p.V57M	TXNDC8_uc011lwl.1_Intron	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8	57	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity				0						TTCACATCCACATTAGCAAAA	0.299													T	113091532	C	T	113091532	3	4	165	1	0	0	0	0	1	0	0	0	16798	478	17	4	194	4	TXNDC8	9	113091532	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5793115	113091532	28121899	711	89864											
ZNF483	158399	broad.mit.edu	37	chr9	114305051	114305051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatatttgtgtaatgattgCggaatgacttttagccattt	8	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:114305051C>T	uc004bff.2	+	6	2060	c.1836C>T	c.(1834-1836)TGC>TGT	p.C612C	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	612	C2H2-type 7.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						GTAATGATTGCGGAATGACTT	0.393													T	114305051	C	T	114305051	2	4	165	1	0	0	0	0	0	0	0	1	17933	776	27	1		1	ZNF483	9	114305051	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1213519	114305051	26908380	712	89865											
ZNF883	169834	broad.mit.edu	37	chr9	115759723	115759723	+	Frame_Shift_Del	DEL	T	T	-													gtgtgtacttcgactgaaggTttttccacattctttacaaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:115759722_115759722GT>G	uc011lwy.2	-	4	2057	c.818_818AC>C	c.(817-819)accfs	p.T273fs		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCGACTGAAGGTTTTTCCACA	0.383													-	115759723	T	-	115759723	7	5	165	1	0	1	0	1	0	0	0	0	18195	1725	60	0	324	0	ZNF883	9	115759723	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1454672	115759723	25453708	713	89866											
SLC31A2	1318	broad.mit.edu	37	chr9	115925105	115925105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacttcatcatgctggccGtaatgtcctacaacacctgg	8	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:115925105G>A	uc004bgq.2	+	4	457	c.340G>A	c.(340-342)GTA>ATA	p.V114I		NM_001860	NP_001851	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporters),	114	Helical; (Potential).					integral to plasma membrane	copper ion transmembrane transporter activity				0						CATGCTGGCCGTAATGTCCTA	0.488													A	115925105	G	A	115925105	3	1	165	1	0	0	0	0	1	0	0	0	14564	1145	40	1	354	1	SLC31A2	9	115925105	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	165382	115925105	25288326	714	89867											
TRAF1	7185	broad.mit.edu	37	chr9	123675628	123675628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctccaagctcaggatgCgctcacggtccagctggctc	11	15	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:123675628C>T	uc004bku.1	-	5	1255	c.683G>A	c.(682-684)CGC>CAC	p.R228H	TRAF1_uc011lyg.1_Missense_Mutation_p.R106H|TRAF1_uc010mvl.1_Missense_Mutation_p.R228H	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	228					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						GCTCAGGATGCGCTCACGGTC	0.617													T	123675628	C	T	123675628	3	4	165	1	0	0	0	0	1	0	0	0	16434	768	27	1	583	1	TRAF1	9	123675628	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7750523	123675628	17537803	715	89868											
TTLL11	158135	broad.mit.edu	37	chr9	124752027	124752027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgggcttccaggaggggTcatcgtctttcaccatttga	12	9	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:124752027T>G	uc004blt.1	-	4	1174	c.986A>C	c.(985-987)GAC>GCC	p.D329A	TTLL11_uc011lyl.1_Missense_Mutation_p.D329A|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.D6A|TTLL11_uc004blu.1_Nonstop_Mutation_p.*284C	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	329	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						CCAGGAGGGGTCATCGTCTTT	0.358													G	124752027	T	G	124752027	3	3	165	1	0	0	0	0	1	0	0	0	16721	1667	58	5	1518	5	TTLL11	9	124752027	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1076399	124752027	16461404	716	89869											
OR1N1	138883	broad.mit.edu	37	chr9	125288709	125288709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtccttgttccttaggctAtagataaaggggttcaacat	9	7	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:125288709A>G	uc004bmn.1	-	1	864	c.864T>C	c.(862-864)TAT>TAC	p.Y288Y		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						TCCTTAGGCTATAGATAAAGG	0.438													G	125288709	A	G	125288709	2	3	165	1	0	0	0	0	0	0	0	1	10969	456	16	3		3	OR1N1	9	125288709	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	536682	125288709	15924722	717	89870											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					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						AATCTGAGATTAAAAAAAACA	0.398													-	125861042	A	-	125861042	7	5	165	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	572333	125861042	15352389	718	89871											
STRBP	55342	broad.mit.edu	37	chr9	125932264	125932264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgggctcttttgtattcCgaattataatagatgcctca	9	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:125932264C>T	uc004bns.2	-	6	882	c.452G>A	c.(451-453)CGG>CAG	p.R151Q	STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Missense_Mutation_p.R137Q|STRBP_uc004bnv.2_Missense_Mutation_p.R151Q	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	151	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						TTTTGTATTCCGAATTATAAT	0.348													T	125932264	C	T	125932264	3	4	165	1	0	0	0	0	1	0	0	0	15326	652	23	1	1622	1	STRBP	9	125932264	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	71222	125932264	15281167	719	89872											
PBX3	5090	broad.mit.edu	37	chr9	128692121	128692121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatcaaggttccttgatgCcaggtatgtgaagccataaa	10	7	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:128692121C>T	uc004bqb.2	+	4	820	c.704C>T	c.(703-705)GCC>GTC	p.A235V	PBX3_uc004bqc.2_Missense_Mutation_p.A54V|PBX3_uc004bqd.2_Missense_Mutation_p.A54V|PBX3_uc011lzw.1_Missense_Mutation_p.A160V|PBX3_uc011lzx.1_Missense_Mutation_p.A146V|PBX3_uc004bqe.2_Missense_Mutation_p.A122V	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	235	Homeobox; TALE-type.				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						TTCCTTGATGCCAGGTATGTG	0.398													T	128692121	C	T	128692121	3	4	165	1	0	0	0	0	1	0	0	0	11494	739	26	2	718	2	PBX3	9	128692121	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2759857	128692121	12521310	720	89873											
TOR2A	27433	broad.mit.edu	37	chr9	130496638	130496638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggagaaaagtggtgcacGcgggggctgcggaggccgcc	20	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:130496638G>A	uc004brs.3	-	2	412	c.357C>T	c.(355-357)CGC>CGT	p.R119R	TOR2A_uc004brt.3_Silent_p.R119R|TOR2A_uc004brw.3_Silent_p.R119R|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	119					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						AGTGGTGCACGCGGGGGCTGC	0.652											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	130496638	G	A	130496638	2	1	165	1	0	0	0	0	0	0	0	1	16372	1074	38	1		1	TOR2A	9	130496638	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1804517	130496638	10716793	721	89874											
GOLGA2	2801	broad.mit.edu	37	chr9	131019737	131019737	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgggcagctgccaggaatCtgccatgccactcgttgcgg	13	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131019737C>T	uc011maw.1	-	25	2718	c.2705G>A	c.(2704-2706)AGA>AAA	p.R902K	GOLGA2_uc010mxw.2_Missense_Mutation_p.R225K|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	902						Golgi cisterna membrane	protein binding			ovary(1)	1						TGCCAGGAATCTGCCATGCCA	0.642													T	131019737	C	T	131019737	3	4	165	1	0	0	0	0	1	0	0	0	6552	913	32	4	311	4	GOLGA2	9	131019737	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	523099	131019737	10193694	722	89875											
SPTAN1	6709	broad.mit.edu	37	chr9	131339690	131339690	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaccctctgagtgcaacAcagattcaagtgaagcgaga	9	12	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131339690A>G	uc004bvl.3	+	8	1103	c.990A>G	c.(988-990)ACA>ACG	p.T330T	SPTAN1_uc011mbg.1_Silent_p.T330T|SPTAN1_uc011mbh.1_Silent_p.T342T|SPTAN1_uc004bvm.3_Silent_p.T330T|SPTAN1_uc004bvn.3_Silent_p.T330T	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	330	Spectrin 4.				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			breast(5)|ovary(4)|pancreas(1)	10						TGAGTGCAACACAGATTCAAG	0.527													G	131339690	A	G	131339690	2	3	165	1	0	0	0	0	0	0	0	1	15116	146	6	3		3	SPTAN1	9	131339690	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	319953	131339690	9873741	723	89876											
SPTAN1	6709	broad.mit.edu	37	chr9	131375680	131375680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggccctgctggcatcCgaagattatggcaaagacct	13	10	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131375680C>T	uc004bvl.3	+	39	5162	c.5049C>T	c.(5047-5049)TCC>TCT	p.S1683S	SPTAN1_uc004bvm.3_Silent_p.S1688S|SPTAN1_uc004bvn.3_Silent_p.S1663S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1683	Spectrin 18.				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			breast(5)|ovary(4)|pancreas(1)	10						TGCTGGCATCCGAAGATTATG	0.483													T	131375680	C	T	131375680	2	4	165	1	0	0	0	0	0	0	0	1	15116	639	23	1		1	SPTAN1	9	131375680	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	35990	131375680	9837751	724	89877											
CRAT	1384	broad.mit.edu	37	chr9	131864220	131864220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggttggaggtgaggatGcccacaggctccttgttggt	17	8	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:131864220G>A	uc004bxh.2	-	6	1029	c.747C>T	c.(745-747)GGC>GGT	p.G249G	CRAT_uc004bxg.2_Silent_p.G228G|CRAT_uc004bxk.3_Silent_p.G228G	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	249					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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGGTGAGGATGCCCACAGGCT	0.592													A	131864220	G	A	131864220	2	1	165	1	0	0	0	0	0	0	0	1	3847	1306	46	2		2	CRAT	9	131864220	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	488540	131864220	9349211	725	89878											
TTF1	7270	broad.mit.edu	37	chr9	135277373	135277373	+	Frame_Shift_Del	DEL	T	T	-													ggtgattggactttttcttcTtttttttcttagactttttt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:135277372_135277372CT>C	uc004cbl.3	-	1	906	c.837_837AG>G	c.(835-837)aagfs	p.K279fs	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	279	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)		ACTTTTTCTTCTTTTTTTTCT	0.478													-	135277373	T	-	135277373	7	5	165	1	0	1	0	1	0	0	0	0	16715	1609	56	0	1921	0	TTF1	9	135277373	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	3413153	135277373	5936058	726	89879											
GTF3C4	9329	broad.mit.edu	37	chr9	135553705	135553705	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggccccggaaggaaatctCggggattttgctgagtttca	14	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:135553705C>T	uc010mzv.2	+	2	957	c.699C>T	c.(697-699)CTC>CTT	p.L233L	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	233					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AAGGAAATCTCGGGGATTTTG	0.517													T	135553705	C	T	135553705	2	4	165	1	0	0	0	0	0	0	0	1	6875	871	31	1		1	GTF3C4	9	135553705	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	276332	135553705	5659726	727	89880											
SLC2A6	11182	broad.mit.edu	37	chr9	136337261	136337261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaccaagcagatggccGcgaagaagaagaaaggcacc	13	11	1	4	rs146699447		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:136337261G>A	uc004cee.2	-	10	1501	c.1406C>T	c.(1405-1407)GCG>GTG	p.A469V	SLC2A6_uc004cef.2_Missense_Mutation_p.A407V|SLC2A6_uc004ceg.2_Missense_Mutation_p.A446V	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	469	Helical; Name=12; (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCAGATGGCCGCGAAGAAGAA	0.642													A	136337261	G	A	136337261	3	1	165	1	0	0	0	0	1	0	0	0	14549	1087	38	1	121	1	SLC2A6	9	136337261	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	783556	136337261	4876170	728	89881											
KIAA0649	9858	broad.mit.edu	37	chr9	138376423	138376423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcctttggcccgccaGggagctgtaggttccccagg	17	12	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:138376423G>A	uc004cfr.1	+	4	616	c.67G>A	c.(67-69)GGG>AGG	p.G23R		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	23						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TGGCCCGCCAGGGAGCTGTAG	0.637													A	138376423	G	A	138376423	3	1	165	1	0	0	0	0	1	0	0	0	8187	1000	35	4	69	4	KIAA0649	9	138376423	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2039162	138376423	2837008	729	89882											
QSOX2	169714	broad.mit.edu	37	chr9	139100732	139100732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaggaagggtgcggcccCgcccacctccttgtgggccc	14	18	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:139100732C>T	uc010nbi.2	-	12	1977	c.1939G>A	c.(1939-1941)GGG>AGG	p.G647R		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	647					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGTGCGGCCCCGCCCACCTCC	0.617													T	139100732	C	T	139100732	3	4	165	1	0	0	0	0	1	0	0	0	12884	652	23	1	161	1	QSOX2	9	139100732	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	724309	139100732	2112699	730	89883											
SEC16A	9919	broad.mit.edu	37	chr9	139368937	139368937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgggcatctttcgtgAcctgctgataaaaacggtca	11	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:139368937A>G	uc004chx.2	-	3	3440	c.3131T>C	c.(3130-3132)GTC>GCC	p.V1044A	SEC16A_uc004chv.3_Missense_Mutation_p.V434A|SEC16A_uc004chw.2_Missense_Mutation_p.V1044A|SEC16A_uc010nbn.2_Missense_Mutation_p.V1044A|SEC16A_uc010nbo.1_Missense_Mutation_p.V1044A	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	866					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCTTTCGTGACCTGCTGATA	0.592													G	139368937	A	G	139368937	3	3	165	1	0	0	0	0	1	0	0	0	13986	275	10	3	4062	3	SEC16A	9	139368937	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	268205	139368937	1844494	731	89884											
NOTCH1	4851	broad.mit.edu	37	chr9	139395218	139395218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtcggagatgacggccGgcgcgtcctcctcttcctcg	13	14	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:139395218G>A	uc004chz.2	-	31	5720	c.5720C>T	c.(5719-5721)CCG>CTG	p.P1907L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1907	Cytoplasmic (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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATGACGGCCGGCGCGTCCTC	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139395218	G	A	139395218	3	1	165	1	0	0	0	0	1	0	0	0	10547	1116	39	1	1963	1	NOTCH1	9	139395218	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	26281	139395218	1818213	732	89885											
NELF	26012	broad.mit.edu	37	chr9	140350863	140350863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtgggcacaagactcacGcttgcatagttgtggttgct	13	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:140350863G>A	uc004cna.2	-	4	936	c.704C>T	c.(703-705)GCC>GTC	p.A235V	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_Missense_Mutation_p.A3V|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A235V|NELF_uc004cmz.2_Missense_Mutation_p.A235V|NELF_uc004cnc.2_Missense_Mutation_p.A235V|NELF_uc004cnb.2_Missense_Mutation_p.A235V	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	235						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		CAAGACTCACGCTTGCATAGT	0.532													A	140350863	G	A	140350863	3	1	165	1	0	0	0	0	1	0	0	0	10332	1101	38	1	950	1	NELF	9	140350863	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	955645	140350863	862568	733	89886											
PNPLA7	375775	broad.mit.edu	37	chr9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-													agggtgctgtagctgtcgatGggggggcgcaggtactcgca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					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)		TAGCTGTCGATGGGGGGGCGC	0.652													-	140356679	G	-	140356679	7	5	165	1	0	1	0	1	0	0	0	0	12170	1335	47	0	451	0	PNPLA7	9	140356679	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	5816	140356679	856752	734	89887											
EHMT1	79813	broad.mit.edu	37	chr9	140672338	140672338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctcccctgaagtgctGccgggccaccactctcggag	10	16	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr9:140672338G>A	uc011mfc.1	+	13	2060	c.2023G>A	c.(2023-2025)GCC>ACC	p.A675T	EHMT1_uc004coa.2_Missense_Mutation_p.A675T|EHMT1_uc004cob.1_Missense_Mutation_p.A644T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	675					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)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGAAGTGCTGCCGGGCCACC	0.597													A	140672338	G	A	140672338	3	1	165	1	0	0	0	0	1	0	0	0	4983	1319	46	2	2073	2	EHMT1	9	140672338	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	315659	140672338	541093	735	89888											
PFKFB3	5209	broad.mit.edu	37	chr10	6262793	6262793	+	Frame_Shift_Del	DEL	G	G	-													acaacctccagggccgcatcGggggcgactcaggcctgtcc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:6262792_6262792CG>C	uc001ije.3	+	7	1179	c.795_795CG>C	c.(793-795)atcfs	p.I265fs	PFKFB3_uc001ijd.3_Frame_Shift_Del_p.I245fs|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Frame_Shift_Del_p.I279fs|PFKFB3_uc001ijf.3_Frame_Shift_Del_p.I265fs	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	265	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|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGGGCCGCATCGGGGGCGACT	0.652													-	6262793	G	-	6262793	7	5	165	1	0	1	0	1	0	0	0	0	11762	1116	39	0	846	0	PFKFB3	10	6262793	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08		6262793	129271954	736	89889											
MCM10	55388	broad.mit.edu	37	chr10	13239741	13239741	+	Frame_Shift_Del	DEL	A	A	-													ggaggtgaaggaacgtgtagAaaaaaacaccatgttttctt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:13239740_13239740GA>G	uc001ima.3	+	14	2223	c.2095_2095GA>G	c.(2095-2097)gaafs	p.E699fs	MCM10_uc001imb.3_Frame_Shift_Del_p.E698fs|MCM10_uc001imc.3_Frame_Shift_Del_p.E698fs	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	699					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAACGTGTAGAAAAAAACAC	0.398													-	13239741	A	-	13239741	7	5	165	1	0	1	0	1	0	0	0	0	9385	246	9	0	2150	0	MCM10	10	13239741	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	6976948	13239741	122295006	737	89890											
SLC39A12	221074	broad.mit.edu	37	chr10	18254554	18254555	+	Frame_Shift_Ins	INS	-	-	C													ggacaaggaaacttgccttcINScccagactactttacagaat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:18254553_18254554T>TC	uc001ipo.2	+	3	958_959	c.685_686T>TC	c.(685-687)tccfs	p.S229fs	SLC39A12_uc001ipn.2_Frame_Shift_Ins_p.S229fs|SLC39A12_uc001ipp.2_Frame_Shift_Ins_p.S229fs|SLC39A12_uc010qck.1_Frame_Shift_Ins_p.S95fs	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	229					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						AAACTTGCCTTCCCCAGACTAC	0.441													C	18254555	-	C	18254554	7	5	165	1	0	1	1	0	0	0	0	0	14615	855	30	0	696	0	SLC39A12	10	18254554	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	5014813	18254554	117280193	738	89891											
CACNB2	783	broad.mit.edu	37	chr10	18828201	18828201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgctccgctcctatcCgttctgcttcccaagctgaa	7	16	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:18828201C>T	uc001ipr.2	+	14	1591	c.1531C>T	c.(1531-1533)CGT>TGT	p.R511C	CACNB2_uc009xjz.1_Missense_Mutation_p.R261C|CACNB2_uc001ips.2_Missense_Mutation_p.R487C|CACNB2_uc001ipt.2_Missense_Mutation_p.R473C|CACNB2_uc001ipu.2_Missense_Mutation_p.R483C|CACNB2_uc001ipv.2_Missense_Mutation_p.R459C|CACNB2_uc009xka.1_Missense_Mutation_p.R445C|CACNB2_uc001ipw.2_Missense_Mutation_p.R418C|CACNB2_uc001ipx.2_Missense_Mutation_p.R456C|CACNB2_uc001ipz.2_Missense_Mutation_p.R433C|CACNB2_uc001ipy.2_Missense_Mutation_p.R457C|CACNB2_uc010qco.1_Missense_Mutation_p.R425C|CACNB2_uc001iqa.2_Missense_Mutation_p.R463C|NSUN6_uc001iqb.2_RNA	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	511					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGCTCCTATCCGTTCTGCTTC	0.542													T	18828201	C	T	18828201	3	4	165	1	0	0	0	0	1	0	0	0	2553	652	23	1	1895	1	CACNB2	10	18828201	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	573647	18828201	116706546	739	89892											
CACNB2	783	broad.mit.edu	37	chr10	18828645	18828645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagggatgtttacatcCgccaatgagttttgcccgtt	11	9	0	1	rs77141223	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:18828645C>T	uc001ipr.2	+	14	2035	c.1975C>T	c.(1975-1977)CGC>TGC	p.R659C	CACNB2_uc009xjz.1_Missense_Mutation_p.R409C|CACNB2_uc001ips.2_Missense_Mutation_p.R635C|CACNB2_uc001ipt.2_Missense_Mutation_p.R621C|CACNB2_uc001ipu.2_Missense_Mutation_p.R631C|CACNB2_uc001ipv.2_Missense_Mutation_p.R607C|CACNB2_uc009xka.1_Missense_Mutation_p.R593C|CACNB2_uc001ipw.2_Missense_Mutation_p.R566C|CACNB2_uc001ipx.2_Missense_Mutation_p.R604C|CACNB2_uc001ipz.2_Missense_Mutation_p.R581C|CACNB2_uc001ipy.2_Missense_Mutation_p.R605C|CACNB2_uc010qco.1_Missense_Mutation_p.R573C|CACNB2_uc001iqa.2_Missense_Mutation_p.R611C|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	659				R -> P (in Ref. 2; AAB53332, 5; AAG01473/ AAL16948/AAL16951/AAL16950 and 6; AAL73495).	axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTTTACATCCGCCAATGAGT	0.408													T	18828645	C	T	18828645	3	4	165	1	0	0	0	0	1	0	0	0	2553	652	23	1	2339	1	CACNB2	10	18828645	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	444	18828645	116706102	740	89893											
PIP4K2A	5305	broad.mit.edu	37	chr10	22830828	22830828	+	Frame_Shift_Del	DEL	G	G	-													gtgtattcccggggctatctGggggggttcccaccgggtgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:22830827_22830827TG>T	uc001irl.4	-	7	1190	c.942_942CA>A	c.(940-942)ccafs	p.P314fs	PIP4K2A_uc010qcu.2_Frame_Shift_Del_p.P174fs	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTC	0.582													-	22830828	G	-	22830828	7	5	165	1	0	1	0	1	0	0	0	0	11936	1348	47	0	291	0	PIP4K2A	10	22830828	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	4002183	22830828	112703919	741	89894											
GPR158	57512	broad.mit.edu	37	chr10	25887199	25887199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgcaagtcagcaagcGctcacaacctcagctcagag	11	12	4	1	rs141827771	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:25887199G>A	uc001isj.2	+	11	2704	c.2644G>A	c.(2644-2646)GCT>ACT	p.A882T	GPR158_uc001isk.2_Missense_Mutation_p.A257T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	882	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GTCAGCAAGCGCTCACAACCT	0.502													A	25887199	G	A	25887199	3	1	165	1	0	0	0	0	1	0	0	0	6663	1087	38	1	2686	1	GPR158	10	25887199	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3056371	25887199	109647548	742	89895											
ANKRD26	22852	broad.mit.edu	37	chr10	27332489	27332489	+	Frame_Shift_Del	DEL	T	T	-													catccatagactgtatttggTttttgacctatgaaataaat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:27332488_27332488GT>G	uc009xku.1	-	19	2200	c.2028_2028AC>C	c.(2026-2028)aacfs	p.N676fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.N362fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.N675fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	675						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						ACTGTATTTGGTTTTTGACCT	0.343													-	27332489	T	-	27332489	7	5	165	1	0	1	0	1	0	0	0	0	654	1725	60	0	3165	0	ANKRD26	10	27332489	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1445290	27332489	108202258	743	89896											
PTCHD3	374308	broad.mit.edu	37	chr10	27692254	27692254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaatcactccaaaggccGcaacacacattttgtttcgt	6	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:27692254G>A	uc001itu.2	-	3	1362	c.1244C>T	c.(1243-1245)GCG>GTG	p.A415V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	415	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TCCAAAGGCCGCAACACACAT	0.438													A	27692254	G	A	27692254	3	1	165	1	0	0	0	0	1	0	0	0	12734	1087	38	1	1067	1	PTCHD3	10	27692254	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	359765	27692254	107842493	744	89897											
PTCHD3	374308	broad.mit.edu	37	chr10	27702568	27702568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagacgaaattggcttcGgtgctcctcctggaggcgga	15	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:27702568G>A	uc001itu.2	-	1	730	c.612C>T	c.(610-612)ACC>ACT	p.T204T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	204					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AATTGGCTTCGGTGCTCCTCC	0.632													A	27702568	G	A	27702568	2	1	165	1	0	0	0	0	0	0	0	1	12734	1103	39	1		1	PTCHD3	10	27702568	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	10314	27702568	107832179	745	89898											
PARD3	56288	broad.mit.edu	37	chr10	34408562	34408562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagagagctgtactggCgctgggcctgctgggagctc	18	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:34408562C>T	uc010qej.1	-	24	3656	c.3656G>A	c.(3655-3657)CGC>CAC	p.R1219H	PARD3_uc010qek.1_Missense_Mutation_p.R1216H|PARD3_uc010qel.1_Missense_Mutation_p.R1182H|PARD3_uc010qem.1_Missense_Mutation_p.R1203H|PARD3_uc010qen.1_Missense_Mutation_p.R1173H|PARD3_uc010qeo.1_Missense_Mutation_p.R1136H|PARD3_uc010qep.1_Missense_Mutation_p.R1129H|PARD3_uc010qeq.1_Missense_Mutation_p.R1107H	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1219	Potential.				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			ovary(1)	1		Breast(68;0.0707)				GCTGTACTGGCGCTGGGCCTG	0.692													T	34408562	C	T	34408562	3	4	165	1	0	0	0	0	1	0	0	0	11443	768	27	1	422	1	PARD3	10	34408562	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6705994	34408562	101126185	746	89899											
FZD8	8325	broad.mit.edu	37	chr10	35929176	35929176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaccacggtgcacagCgcggggccggtggtctcgta	16	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:35929176C>T	uc001iyz.1	-	1	1187	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	394	Extracellular (Potential).				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				0						CGGTGCACAGCGCGGGGCCGG	0.502													T	35929176	C	T	35929176	2	4	165	1	0	0	0	0	0	0	0	1	6136	755	27	1		1	FZD8	10	35929176	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1520614	35929176	99605571	747	89900											
ZNF248	57209	broad.mit.edu	37	chr10	38121115	38121117	+	In_Frame_Del	DEL	AGA	AGA	-													agtgaggtttgacttctcccAgaaggttttcccacattcac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:38121114_38121116CAGA>C	uc001izd.1	-	5	1666_1668	c.1167_1169TCTG>G	c.(1165-1170)ttctgg>ttGg	p.389_390FW>L	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_In_Frame_Del_p.389_390FW>L	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	389					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						TGACTTCTCCCAGAAGGTTTTCC	0.448													-	38121117	AGA	-	38121115	7	5	165	1	0	1	0	1	0	0	0	0	17790	188	7	0	575	0	ZNF248	10	38121115	In_Frame_Del	DEL	AGA	TCGA-CG-4305-01A-01D-1158-08	2191939	38121115	97413632	748	89901											
RET	5979	broad.mit.edu	37	chr10	43598065	43598065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatcagcgtggcctacAggctcctggagggtgagtgc	14	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:43598065A>G	uc001jal.2	+	3	803	c.613A>G	c.(613-615)AGG>GGG	p.R205G	RET_uc001jak.1_Missense_Mutation_p.R205G|RET_uc010qez.1_5'Flank	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	205	Cadherin.|Extracellular (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGTGGCCTACAGGCTCCTGGA	0.627		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				G	43598065	A	G	43598065	3	3	165	1	0	0	0	0	1	0	0	0	13235	179	7	3	623	3	RET	10	43598065	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5476950	43598065	91936682	749	89902											
RET	5979	broad.mit.edu	37	chr10	43620416	43620416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagacctggagaagatgAtggttaagaggagagtgagt	16	3	0	7			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:43620416A>G	uc001jal.2	+	18	3215	c.3025A>G	c.(3025-3027)ATG>GTG	p.M1009V	RET_uc001jak.1_Missense_Mutation_p.M1009V|RET_uc010qez.1_Missense_Mutation_p.M755V	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1009	Protein kinase.|Cytoplasmic (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGAGAAGATGATGGTTAAGAG	0.562		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				G	43620416	A	G	43620416	3	3	165	1	0	0	0	0	1	0	0	0	13235	333	12	3	3095	3	RET	10	43620416	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	22351	43620416	91914331	750	89903											
ZNF32	7580	broad.mit.edu	37	chr10	44139887	44139887	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacagcgagactacctcGttgactgaagcttttcccac	10	12	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:44139887G>A	uc001jbb.2	-	3	622	c.433C>T	c.(433-435)CGA>TGA	p.R145*	uc001jba.2_Intron|ZNF32_uc001jbc.2_Nonsense_Mutation_p.R145*	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	145	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AGACTACCTCGTTGACTGAAG	0.483													A	44139887	G	A	44139887	4	1	165	1	0	0	0	0	0	1	0	0	17835	1153	40	1	392	1	ZNF32	10	44139887	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	519471	44139887	91394860	751	89904											
RASSF4	83937	broad.mit.edu	37	chr10	45478096	45478096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcatggatgcccagacGgcctagctgccctctgtgag	11	15	2	2	rs145855403	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:45478096G>A	uc001jbo.2	+	4	400	c.266G>A	c.(265-267)CGG>CAG	p.R89Q	RASSF4_uc001jbp.2_Missense_Mutation_p.R120Q|RASSF4_uc009xmn.2_Missense_Mutation_p.R19Q|RASSF4_uc001jbq.2_Missense_Mutation_p.G17S|RASSF4_uc001jbt.2_Missense_Mutation_p.R19Q	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	89					cell cycle|signal transduction		protein binding			large_intestine(1)	1						ATGCCCAGACGGCCTAGCTGC	0.657													A	45478096	G	A	45478096	3	1	165	1	0	0	0	0	1	0	0	0	13088	1116	39	1	276	1	RASSF4	10	45478096	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1338209	45478096	90056651	752	89905											
ZNF22	7570	broad.mit.edu	37	chr10	45499436	45499439	+	Frame_Shift_Del	DEL	ACTT	ACTT	-													aaatatcagggtgaagactcActtaccctcttggaaagctg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:45499435_45499438CACTT>C	uc001jbw.3	+	1	862_865	c.619_622CACTT>C	c.(619-624)cacttafs	p.H207fs	C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Frame_Shift_Del_p.H207fs	NM_006963	NP_008894	P17026	ZNF22_HUMAN	Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA.	207					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GGTGAAGACTCACTTACCCTCTTG	0.441													-	45499439	ACTT	-	45499436	7	5	165	1	0	1	0	1	0	0	0	0	17771	159	6	0	622	0	ZNF22	10	45499436	Frame_Shift_Del	DEL	ACTT	TCGA-CG-4305-01A-01D-1158-08	21340	45499436	90035311	753	89906											
OR13A1	79290	broad.mit.edu	37	chr10	45799648	45799648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagaaaaagtacataggagCgtggagcccagggttgaacg	14	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:45799648C>T	uc001jcc.1	-	4	532	c.223G>A	c.(223-225)GCT>ACT	p.A75T	OR13A1_uc001jcd.1_Missense_Mutation_p.A71T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TACATAGGAGCGTGGAGCCCA	0.522													T	45799648	C	T	45799648	3	4	165	1	0	0	0	0	1	0	0	0	10933	768	27	1	767	1	OR13A1	10	45799648	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	300212	45799648	89735099	754	89907											
ANK3	288	broad.mit.edu	37	chr10	61829489	61829489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttataggcgtgcgcaacTtggggtcaactttagaggtg	13	6	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:61829489T>G	uc001jky.2	-	37	11342	c.11150A>C	c.(11149-11151)AAG>ACG	p.K3717T	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3717					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CGTGCGCAACTTGGGGTCAAC	0.507													G	61829489	T	G	61829489	3	3	165	1	0	0	0	0	1	0	0	0	622	1609	56	5	2324	5	ANK3	10	61829489	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	16029841	61829489	73705258	755	89908											
ANK3	288	broad.mit.edu	37	chr10	61836200	61836200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgttgctcctgtactcCgttcaactgtttcttaaatt	5	10	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:61836200C>T	uc001jky.2	-	37	4631	c.4439G>A	c.(4438-4440)CGG>CAG	p.R1480Q	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1480					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCCTGTACTCCGTTCAACTGT	0.383													T	61836200	C	T	61836200	3	4	165	1	0	0	0	0	1	0	0	0	622	652	23	1	9035	1	ANK3	10	61836200	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6711	61836200	73698547	756	89909											
ARID5B	84159	broad.mit.edu	37	chr10	63850705	63850705	+	Frame_Shift_Del	DEL	A	A	-													tcccagcagcagacatgaagAaaaaaatagaagggtatcag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:63850704_63850704GA>G	uc001jlt.2	+	9	1938	c.1482_1482GA>G	c.(1480-1482)aagfs	p.K494fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K251fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	494					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)					CAGACATGAAGAAAAAAATAG	0.438													-	63850705	A	-	63850705	7	5	165	1	0	1	0	1	0	0	0	0	922	247	9	0	1521	0	ARID5B	10	63850705	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	2014505	63850705	71684042	757	89910											
ZNF365	22891	broad.mit.edu	37	chr10	64136336	64136336	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtcctatgtgcagacCtacactgccatggacctcca	8	15	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:64136336C>A	uc001jmc.2	+	2	699	c.384C>A	c.(382-384)ACC>ACA	p.T128T	ZNF365_uc001jly.3_Silent_p.T143T|ZNF365_uc001jmb.3_Silent_p.T128T|ZNF365_uc001jlz.3_Silent_p.T128T|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATGTGCAGACCTACACTGCCA	0.532													A	64136336	C	A	64136336	2	1	165	1	0	0	0	0	0	0	0	1	17866	668	24	5		5	ZNF365	10	64136336	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	285631	64136336	71398411	758	89911											
JMJD1C	221037	broad.mit.edu	37	chr10	64952810	64952810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacatcactctctgggctGctgccaccatttttctcaga	6	15	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:64952810G>A	uc001jmn.2	-	16	6264	c.5964C>T	c.(5962-5964)AGC>AGT	p.S1988S	JMJD1C_uc001jml.2_Silent_p.S1751S|JMJD1C_uc001jmm.2_Silent_p.S1700S|JMJD1C_uc010qiq.1_Silent_p.S1806S|JMJD1C_uc009xpi.2_Silent_p.S1806S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Silent_p.S886S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1988					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTCTGGGCTGCTGCCACCAT	0.443													A	64952810	G	A	64952810	2	1	165	1	0	0	0	0	0	0	0	1	7950	1310	46	2		2	JMJD1C	10	64952810	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	816474	64952810	70581937	759	89912											
JMJD1C	221037	broad.mit.edu	37	chr10	64954088	64954088	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcattaaatgtttgtgatCatgaggctgtcccttcacac	9	9	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:64954088C>T	uc001jmn.2	-	14	5992	c.5692G>A	c.(5692-5694)GAT>AAT	p.D1898N	JMJD1C_uc001jml.2_Missense_Mutation_p.D1679N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D1610N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D1716N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D1716N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.D796N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1898					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGTTTGTGATCATGAGGCTGT	0.333													T	64954088	C	T	64954088	3	4	165	1	0	0	0	0	1	0	0	0	7950	826	29	4	1982	4	JMJD1C	10	64954088	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1278	64954088	70580659	760	89913											
HK1	3098	broad.mit.edu	37	chr10	71158533	71158533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaacagaggactggaccGtctgaatgtgactgtgggag	16	7	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:71158533G>A	uc001jpl.3	+	17	2659	c.2558G>A	c.(2557-2559)CGT>CAT	p.R853H	HK1_uc001jpg.3_Missense_Mutation_p.R841H|HK1_uc001jph.3_Missense_Mutation_p.R857H|HK1_uc001jpi.3_Missense_Mutation_p.R857H|HK1_uc001jpj.3_Missense_Mutation_p.R888H|HK1_uc001jpk.3_Missense_Mutation_p.R852H	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	853	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GGACTGGACCGTCTGAATGTG	0.592													A	71158533	G	A	71158533	3	1	165	1	0	0	0	0	1	0	0	0	7190	1145	40	1	2802	1	HK1	10	71158533	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	6204445	71158533	64376214	761	89914											
C10orf27	219793	broad.mit.edu	37	chr10	72539371	72539371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagctgggggttccgAttagactgtgggtctccaat	14	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:72539371A>G	uc001jrj.1	-	5	795	c.405T>C	c.(403-405)AAT>AAC	p.N135N	C10orf27_uc010qjm.1_Silent_p.N135N|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Silent_p.N135N|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Silent_p.N124N|C10orf27_uc009xqj.1_Missense_Mutation_p.I130T|C10orf27_uc010qjp.1_Silent_p.N124N	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph	135					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				skin(1)	1						GGGGGTTCCGATTAGACTGTG	0.587													G	72539371	A	G	72539371	2	3	165	1	0	0	0	0	0	0	0	1	1600	330	12	3		3	C10orf27	10	72539371	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1380838	72539371	62995376	762	89915											
UNC5B	219699	broad.mit.edu	37	chr10	73050685	73050685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagtgctggaggcctcAggggatgcggcgctgtatgc	17	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:73050685A>G	uc001jro.2	+	9	1558	c.1113A>G	c.(1111-1113)TCA>TCG	p.S371S	UNC5B_uc001jrp.2_Silent_p.S360S	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	371	Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TGGAGGCCTCAGGGGATGCGG	0.637													G	73050685	A	G	73050685	2	3	165	1	0	0	0	0	0	0	0	1	16989	175	7	3		3	UNC5B	10	73050685	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	511314	73050685	62484062	763	89916											
USP54	159195	broad.mit.edu	37	chr10	75265090	75265090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacgcactgttctggcTtcatggagaccatgctccat	10	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:75265090T>G	uc001juo.2	-	19	4163	c.4146A>C	c.(4144-4146)GAA>GAC	p.E1382D	USP54_uc010qkk.1_Missense_Mutation_p.E564D|USP54_uc001juk.2_Missense_Mutation_p.E470D|USP54_uc001jul.2_Missense_Mutation_p.E470D|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1382					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CTGTTCTGGCTTCATGGAGAC	0.547													G	75265090	T	G	75265090	3	3	165	1	0	0	0	0	1	0	0	0	17082	1606	56	5	924	5	USP54	10	75265090	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2214405	75265090	60269657	764	89917											
NDST2	8509	broad.mit.edu	37	chr10	75567582	75567582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtttgagtgtaaaaaaaGgggaaagcccttgagctggg	14	5	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:75567582G>A	uc001jvk.2	-	3	1369	c.565C>T	c.(565-567)CTT>TTT	p.L189F	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.L66F|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.L66F	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	189	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					TGTAAAAAAAGGGGAAAGCCC	0.577													A	75567582	G	A	75567582	3	1	165	1	0	0	0	0	1	0	0	0	10256	1000	35	4	2138	4	NDST2	10	75567582	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	302492	75567582	59967165	765	89918											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058854	81058854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattccctgtgcgggatggcGtggtgctggagcccttccgc	15	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:81058854G>A	uc001kaf.2	+	16	2286	c.1714G>A	c.(1714-1716)GTG>ATG	p.V572M	ZMIZ1_uc001kag.2_Missense_Mutation_p.V448M	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	572					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	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)			GCGGGATGGCGTGGTGCTGGA	0.647													A	81058854	G	A	81058854	3	1	165	1	0	0	0	0	1	0	0	0	17693	1145	40	1	1760	1	ZMIZ1	10	81058854	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5491272	81058854	54475893	766	89919											
SFTPA2	729238	broad.mit.edu	37	chr10	81319123	81319123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccctgcctggcaggccGtgggatccaggagtgccggg	17	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:81319123G>A	uc001kal.3	-	3	214	c.117C>T	c.(115-117)CAC>CAT	p.H39H	SFTPA2_uc001kan.3_Silent_p.H39H|SFTPA2_uc001kam.2_RNA	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	39	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	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)			CTGGCAGGCCGTGGGATCCAG	0.632									Pulmonary_Fibrosis_Idiopathic				A	81319123	G	A	81319123	2	1	165	1	0	0	0	0	0	0	0	1	14190	1136	40	1		1	SFTPA2	10	81319123	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	260269	81319123	54215624	767	89920											
WAPAL	23063	broad.mit.edu	37	chr10	88260114	88260114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttttattggccctacagtAcgtcctacagttggttggcc	10	11	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:88260114A>G	uc001kdo.2	-	3	1328	c.886T>C	c.(886-888)TAC>CAC	p.Y296H	WAPAL_uc001kdn.2_Missense_Mutation_p.Y339H|WAPAL_uc009xsw.2_Missense_Mutation_p.Y296H	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	296	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			ovary(1)	1						GCCCTACAGTACGTCCTACAG	0.418													G	88260114	A	G	88260114	3	3	165	1	0	0	0	0	1	0	0	0	17245	391	14	3	2754	3	WAPAL	10	88260114	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	6940991	88260114	47274633	768	89921											
PAPSS2	9060	broad.mit.edu	37	chr10	89472990	89472990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagaggaaaatatccgcCggattgctgaggtggctaag	14	7	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:89472990C>T	uc001kex.2	+	3	567	c.304C>T	c.(304-306)CGG>TGG	p.R102W	PAPSS2_uc001kew.2_Missense_Mutation_p.R102W|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	102	Adenylyl-sulfate kinase.				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)|skin(1)	2		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)		AAATATCCGCCGGATTGCTGA	0.453													T	89472990	C	T	89472990	3	4	165	1	0	0	0	0	1	0	0	0	11435	643	23	1	314	1	PAPSS2	10	89472990	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1212876	89472990	46061757	769	89922											
PTEN	5728	broad.mit.edu	37	chr10	89720812	89720813	+	Frame_Shift_Ins	INS	-	-	A													atctagtacttactttaacaINSaaaaatgatcttgacaaagc					rs121913291		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:89720811_89720812C>CA	uc001kfb.3	+	7	1994_1995	c.962_963C>CA	c.(961-963)acafs	p.T321fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	321	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.T321fs*23(19)|p.T321fs*3(15)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T321fs*6(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(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)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	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)			A	89720813	-	A	89720812	7	5	165	1	0	1	1	0	0	0	0	0	12738	117	5	0	993	0	PTEN	10	89720812	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	247822	89720812	45813935	770	89923											
CYP26C1	340665	broad.mit.edu	37	chr10	94828126	94828126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtatagcatccgggacaCgcacgagacggctgcggtgt	15	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:94828126C>T	uc010qns.1	+	6	1241	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	414					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)	1		Colorectal(252;0.122)				ATCCGGGACACGCACGAGACG	0.667													T	94828126	C	T	94828126	3	4	165	1	0	0	0	0	1	0	0	0	4157	536	19	1	1263	1	CYP26C1	10	94828126	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5107314	94828126	40706621	771	89924											
BLNK	29760	broad.mit.edu	37	chr10	97969609	97969609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacccggcccgtggcaacGgggatggtgcagctggtgga	17	11	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:97969609G>A	uc001kls.3	-	9	909	c.731C>T	c.(730-732)CCG>CTG	p.P244L	BLNK_uc001kme.3_Missense_Mutation_p.P139L|BLNK_uc001klt.3_Missense_Mutation_p.P135L|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.P162L|BLNK_uc001klv.3_Missense_Mutation_p.P139L|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.P221L|BLNK_uc001kly.3_Missense_Mutation_p.P244L|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.P221L|BLNK_uc001kmb.3_Missense_Mutation_p.P40L|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.P162L|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	244	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			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCGTGGCAACGGGGATGGTGC	0.562													A	97969609	G	A	97969609	3	1	165	1	0	0	0	0	1	0	0	0	1447	1116	39	1	675	1	BLNK	10	97969609	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3141483	97969609	37565138	772	89925											
DHDPSL	112817	broad.mit.edu	37	chr10	99371285	99371285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgacccggcgctttgggAtcccagggctgaagaaaatc	14	10	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:99371285A>G	uc001kny.2	+	7	1212	c.853A>G	c.(853-855)ATC>GTC	p.I285V	DHDPSL_uc001knz.2_Missense_Mutation_p.I122V|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	285					glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0						GCGCTTTGGGATCCCAGGGCT	0.572													G	99371285	A	G	99371285	3	3	165	1	0	0	0	0	1	0	0	0	4480	333	12	3	879	3	DHDPSL	10	99371285	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1401676	99371285	36163462	773	89926											
CNNM1	26507	broad.mit.edu	37	chr10	101147615	101147615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgcactcactgcctgCcacatggacagctcacctca	7	17	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:101147615C>T	uc001kpp.3	+	8	2668	c.2379C>T	c.(2377-2379)TGC>TGT	p.C793C	CNNM1_uc010qpi.1_Silent_p.C814C|CNNM1_uc009xwf.2_Silent_p.C793C|CNNM1_uc009xwg.2_Silent_p.C193C	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	793					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCACTGCCTGCCACATGGACA	0.617													T	101147615	C	T	101147615	2	4	165	1	0	0	0	0	0	0	0	1	3612	747	26	2		2	CNNM1	10	101147615	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1776330	101147615	34387132	774	89927											
GOT1	2805	broad.mit.edu	37	chr10	101157324	101157324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactggattttggtgactgCttcatggatggaggtggcca	14	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:101157324C>T	uc001kpr.2	-	9	1430	c.1222G>A	c.(1222-1224)GCA>ACA	p.A408T	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_Missense_Mutation_p.A121T	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	408					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		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)	TTGGTGACTGCTTCATGGATG	0.448													T	101157324	C	T	101157324	3	4	165	1	0	0	0	0	1	0	0	0	6579	797	28	2	23	2	GOT1	10	101157324	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	9709	101157324	34377423	775	89928											
HPS6	79803	broad.mit.edu	37	chr10	103826348	103826348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagagctggagacccgaGggaatcttcgtctgctttca	13	9	3	2	rs140222296		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:103826348G>T	uc001kuj.2	+	1	1202	c.1117G>T	c.(1117-1119)GGG>TGG	p.G373W		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	373						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGACCCGAGGGAATCTTCG	0.572									Hermansky-Pudlak_syndrome				T	103826348	G	T	103826348	3	4	165	1	0	0	0	0	1	0	0	0	7343	1000	35	5	1119	5	HPS6	10	103826348	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2669024	103826348	31708399	776	89929											
PPRC1	23082	broad.mit.edu	37	chr10	103908180	103908180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctcttcctcttcttcGtcatcatcttcctcttcgtc	4	15	7	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:103908180G>A	uc001kum.2	+	10	4491	c.4452G>A	c.(4450-4452)TCG>TCA	p.S1484S	PPRC1_uc001kun.2_Silent_p.S1364S|PPRC1_uc010qqj.1_Silent_p.S1220S|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1484	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		cctcttcttcgtcatcatctt	0.433													A	103908180	G	A	103908180	2	1	165	1	0	0	0	0	0	0	0	1	12410	1132	40	1		1	PPRC1	10	103908180	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	81832	103908180	31626567	777	89930											
NOLC1	9221	broad.mit.edu	37	chr10	103919311	103919311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcaaaaaaaacccaTgaaaaataaaccaggtgact	8	7	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:103919311T>C	uc001kuo.2	+	7	1080	c.845T>C	c.(844-846)ATG>ACG	p.M282T	NOLC1_uc001kup.2_Missense_Mutation_p.M292T|NOLC1_uc001kuq.2_Missense_Mutation_p.M283T|NOLC1_uc009xxb.1_Missense_Mutation_p.M1T|NOLC1_uc001kur.2_Missense_Mutation_p.M1T	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	282	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			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAAAAACCCATGAAAAATAAA	0.318													C	103919311	T	C	103919311	3	2	165	1	0	0	0	0	1	0	0	0	10529	1464	51	3	871	3	NOLC1	10	103919311	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	11131	103919311	31615436	778	89931											
TCF7L2	6934	broad.mit.edu	37	chr10	114925566	114925566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccacccacaaggcctcCgccctctgtcccaacggggc	11	19	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:114925566C>T	uc001lae.3	+	14	2151	c.1644C>T	c.(1642-1644)TCC>TCT	p.S548S	TCF7L2_uc001lac.3_Silent_p.S542S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.S525S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.S525S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.S480S|TCF7L2_uc010qrs.1_Silent_p.S436S|TCF7L2_uc010qrt.1_Silent_p.S436S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	565					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACAAGGCCTCCGCCCTCTGTC	0.672													T	114925566	C	T	114925566	2	4	165	1	0	0	0	0	0	0	0	1	15695	639	23	1		1	TCF7L2	10	114925566	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	11006255	114925566	20609181	779	89932											
NRAP	4892	broad.mit.edu	37	chr10	115356939	115356939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggttttttacggtacTtggtctataagataaagaca	9	5	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:115356939T>C	uc001laj.2	-	37	4501	c.4337A>G	c.(4336-4338)AAG>AGG	p.K1446R	NRAP_uc009xyb.2_Missense_Mutation_p.K235R|NRAP_uc001lak.2_Missense_Mutation_p.K1411R|NRAP_uc001lal.3_Missense_Mutation_p.K1446R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1446	Nebulin 38.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTACGGTACTTGGTCTATAA	0.448													C	115356939	T	C	115356939	3	2	165	1	0	0	0	0	1	0	0	0	10638	1609	56	3	879	3	NRAP	10	115356939	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	431373	115356939	20177808	780	89933											
FAM160B1	57700	broad.mit.edu	37	chr10	116603678	116603678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgttagatattgaaaccgTggaagcaattaactgggggt	12	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:116603678T>C	uc001lcb.2	+	7	1330	c.995T>C	c.(994-996)GTG>GCG	p.V332A	FAM160B1_uc001lcc.2_Missense_Mutation_p.V332A	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	332										lung(1)	1						ATTGAAACCGTGGAAGCAATT	0.423													C	116603678	T	C	116603678	3	2	165	1	0	0	0	0	1	0	0	0	5470	1696	59	3	1021	3	FAM160B1	10	116603678	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1246739	116603678	18931069	781	89934											
TACC2	10579	broad.mit.edu	37	chr10	123844356	123844356	+	Frame_Shift_Del	DEL	C	C	-													ttcatgctggggtgccacatCccccccagggggagaacttg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:123844355_123844355TC>T	uc001lfv.3	+	3	2700	c.2340_2340TC>T	c.(2338-2340)catfs	p.H780fs	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Frame_Shift_Del_p.H780fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.H780fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	780						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)				GGGTGCCACATCCCCCCCAGG	0.642													-	123844356	C	-	123844356	7	5	165	1	0	1	0	1	0	0	0	0	15499	855	30	0	2351	0	TACC2	10	123844356	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	7240678	123844356	11690391	782	89935											
FOXI2	399823	broad.mit.edu	37	chr10	129536818	129536818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccctggaccccaactgCgagaagatgtttgacaacgg	12	11	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:129536818C>T	uc009yas.2	+	2	546	c.546C>T	c.(544-546)TGC>TGT	p.C182C	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	182	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				ACCCCAACTGCGAGAAGATGT	0.602													T	129536818	C	T	129536818	2	4	165	1	0	0	0	0	0	0	0	1	6010	776	27	1		1	FOXI2	10	129536818	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5692462	129536818	5997929	783	89936											
PWWP2B	170394	broad.mit.edu	37	chr10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-													gatgcagctggggtccagctCcccccctcctgcccgcgggg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:134218254_134218254TC>T	uc001lll.4	+	1	279	c.250_250TC>T	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										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)		GGGGTCCAGCTCCCCCCCTCC	0.746													-	134218255	C	-	134218255	7	5	165	1	0	1	0	1	0	0	0	0	12846	855	30	0	257	0	PWWP2B	10	134218255	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	4681437	134218255	1316492	784	89937											
GPR123	84435	broad.mit.edu	37	chr10	134942261	134942261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaccactgcgccaagcGtgaggacgtgtggcagtgct	13	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr10:134942261G>A	uc001llx.3	+	7	1365	c.929G>A	c.(928-930)CGT>CAT	p.R310H	GPR123_uc001llw.2_Missense_Mutation_p.R1029H	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		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)		TGCGCCAAGCGTGAGGACGTG	0.692													A	134942261	G	A	134942261	3	1	165	1	0	0	0	0	1	0	0	0	6637	1145	40	1	951	1	GPR123	10	134942261	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	724006	134942261	592486	785	89938											
MUC6	4588	broad.mit.edu	37	chr11	1031986	1031986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacgtccccgagaagtcGtacacgtggtggtcgaaggt	14	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1031986G>A	uc001lsw.2	-	3	234	c.183C>T	c.(181-183)TAC>TAT	p.Y61Y		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	61	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		CCGAGAAGTCGTACACGTGGT	0.632													A	1031986	G	A	1031986	2	1	165	1	0	0	0	0	0	0	0	1	9980	1140	40	1		1	MUC6	11	1031986	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08		1031986	133974530	786	89939											
MUC5B	727897	broad.mit.edu	37	chr11	1265996	1265996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagggacggcacgcaCgcttccagtgtggatcagca	13	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1265996C>T	uc009ycr.1	+	48	9926	c.9800C>T	c.(9799-9801)ACG>ATG	p.T3267M	MUC5B_uc001ltb.2_Missense_Mutation_p.T2632M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2629	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		ACGGCACGCACGCTTCCAGTG	0.642													T	1265996	C	T	1265996	3	4	165	1	0	0	0	0	1	0	0	0	9979	536	19	1	8017	1	MUC5B	11	1265996	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	234010	1265996	133740520	787	89940											
MUC5B	727897	broad.mit.edu	37	chr11	1275928	1275928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggattcccccagatccTgtttgaccaaattccggtga	8	14	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1275928T>C	uc009ycr.1	+	57	16619	c.16493T>C	c.(16492-16494)CTG>CCG	p.L5498P	MUC5B_uc001ltb.2_Missense_Mutation_p.L5164P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5161	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CCCCAGATCCTGTTTGACCAA	0.617													C	1275928	T	C	1275928	3	2	165	1	0	0	0	0	1	0	0	0	9979	1580	55	3	15629	3	MUC5B	11	1275928	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	9932	1275928	133730588	788	89941											
MOB2	81532	broad.mit.edu	37	chr11	1491656	1491656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtagatgtgtgccagcaCgtggaacaggtgtctgcaga	14	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:1491656C>T	uc010qwz.1	-	5	743	c.553G>A	c.(553-555)GTG>ATG	p.V185M	MOB2_uc001lto.1_Missense_Mutation_p.V69M|MOB2_uc001ltp.1_Translation_Start_Site|MOB2_uc001ltq.1_Missense_Mutation_p.V148M|MOB2_uc010qwy.1_Missense_Mutation_p.V69M	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN	HCCA2 protein	154						nucleus|perinuclear region of cytoplasm	metal ion binding				0						TGTGCCAGCACGTGGAACAGG	0.582													T	1491656	C	T	1491656	3	4	165	1	0	0	0	0	1	0	0	0	9681	536	19	1	257	1	MOB2	11	1491656	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	215728	1491656	133514860	789	89942											
OSBPL5	114879	broad.mit.edu	37	chr11	3115052	3115052	+	Frame_Shift_Del	DEL	C	C	-													tctggttgatgctggtgctaCccccgaagaagggctgcggg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:3115051_3115051AC>A	uc001lxk.2	-	15	1892	c.1734_1734GT>T	c.(1732-1734)ggtfs	p.G578fs	OSBPL5_uc010qxq.1_Frame_Shift_Del_p.G489fs|OSBPL5_uc009ydw.2_Frame_Shift_Del_p.G510fs|OSBPL5_uc001lxl.2_Frame_Shift_Del_p.G510fs|OSBPL5_uc009ydx.3_Frame_Shift_Del_p.G602fs|OSBPL5_uc001lxj.2_Frame_Shift_Del_p.G32fs	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	578					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol 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)		TGCTGGTGCTACCCCCGAAGA	0.637													-	3115052	C	-	3115052	7	5	165	1	0	1	0	1	0	0	0	0	11280	507	18	0	934	0	OSBPL5	11	3115052	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	1623396	3115052	131891464	790	89943											
OR51E1	143503	broad.mit.edu	37	chr11	4674677	4674677	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcgacagcgcatccttcgActtttccatgtggccacaca	7	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:4674677A>T	uc001lzi.3	+	2	1065	c.921A>T	c.(919-921)CGA>CGT	p.R307R		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCCTTCGACTTTTCCATG	0.453													T	4674677	A	T	4674677	2	4	165	1	0	0	0	0	0	0	0	1	11094	262	10	5		5	OR51E1	11	4674677	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1559625	4674677	130331839	791	89944											
OR51B5	282763	broad.mit.edu	37	chr11	5364052	5364052	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagacacaggtaatgagagCcttggccctctcctctctgg	12	12	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:5364052C>G	uc001map.1	-	1	703	c.703G>C	c.(703-705)GCT>CCT	p.A235P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		GTAATGAGAGCCTTGGCCCTC	0.433													G	5364052	C	G	5364052	3	3	165	1	0	0	0	0	1	0	0	0	11091	739	26	5	239	5	OR51B5	11	5364052	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	689375	5364052	129642464	792	89945											
OR52H1	390067	broad.mit.edu	37	chr11	5565865	5565865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcactccgtaaaccatggGgttgagtgcaggtgggataa	13	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:5565865G>T	uc010qzh.1	-	1	889	c.889C>A	c.(889-891)CCC>ACC	p.P297T	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	297	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAACCATGGGGTTGAGTGCA	0.428													T	5565865	G	T	5565865	3	4	165	1	0	0	0	0	1	0	0	0	11119	1232	43	5	76	5	OR52H1	11	5565865	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	201813	5565865	129440651	793	89946											
TRIM5	85363	broad.mit.edu	37	chr11	5701403	5701403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattaaccaggattccagaaGccatagtagctattccactg	7	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:5701403G>A	uc001mbm.1	-	2	262	c.5C>T	c.(4-6)GCT>GTT	p.A2V	TRIM5_uc001mbq.1_Missense_Mutation_p.A2V|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A2V|TRIM5_uc001mbo.2_Missense_Mutation_p.A2V|TRIM5_uc001mbp.2_Missense_Mutation_p.A2V	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	2					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		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)		GATTCCAGAAGCCATAGTAGC	0.537													A	5701403	G	A	5701403	3	1	165	1	0	0	0	0	1	0	0	0	16522	971	34	2	1743	2	TRIM5	11	5701403	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	135538	5701403	129305113	794	89947											
RRP8	23378	broad.mit.edu	37	chr11	6622259	6622259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggcaatccccacagccgAagtcagccaccactagggat	10	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:6622259A>G	uc001med.2	-	4	1023	c.944T>C	c.(943-945)TTC>TCC	p.F315S	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	315					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						CCCACAGCCGAAGTCAGCCAC	0.552													G	6622259	A	G	6622259	3	3	165	1	0	0	0	0	1	0	0	0	13690	246	9	3	442	3	RRP8	11	6622259	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	920856	6622259	128384257	795	89948											
NLRP14	338323	broad.mit.edu	37	chr11	7063895	7063895	+	Frame_Shift_Del	DEL	T	T	-													ccagcagaggtttaagtatgTtttttatctcaatgggagag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:7063894_7063894GT>G	uc001mfb.1	+	3	960	c.637_637GT>G	c.(637-639)gttfs	p.V213fs		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	213	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)		GTTTAAGTATGTTTTTTATCT	0.463													-	7063895	T	-	7063895	7	5	165	1	0	1	0	1	0	0	0	0	10476	1725	60	0	648	0	NLRP14	11	7063895	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	441636	7063895	127942621	796	89949											
RBMXL2	27288	broad.mit.edu	37	chr11	7110454	7110454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaagtatggccgcatcGtcgaggtgctcctgatgaaa	13	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:7110454G>A	uc001mfc.2	+	1	290	c.103G>A	c.(103-105)GTC>ATC	p.V35I		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	35	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGCCGCATCGTCGAGGTGCT	0.602													A	7110454	G	A	7110454	3	1	165	1	0	0	0	0	1	0	0	0	13154	1145	40	1	105	1	RBMXL2	11	7110454	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	46559	7110454	127896062	797	89950											
RBMXL2	27288	broad.mit.edu	37	chr11	7111029	7111029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcgagccgagactaccgCgaaccccggggttttgcccc	11	16	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:7111029C>T	uc001mfc.2	+	1	865	c.678C>T	c.(676-678)CGC>CGT	p.R226R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	226	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGACTACCGCGAACCCCGGG	0.706													T	7111029	C	T	7111029	2	4	165	1	0	0	0	0	0	0	0	1	13154	755	27	1		1	RBMXL2	11	7111029	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	575	7111029	127895487	798	89951											
SPON1	10418	broad.mit.edu	37	chr11	14284395	14284395	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccagagactgtgcagCgaaaaaagtgccgcatccga	11	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:14284395C>T	uc001mle.2	+	16	2672	c.2134C>T	c.(2134-2136)CGA>TGA	p.R712*		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	712	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		GACTGTGCAGCGAAAAAAGTG	0.552													T	14284395	C	T	14284395	4	4	165	1	0	0	0	0	0	1	0	0	15081	760	27	1	2191	1	SPON1	11	14284395	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7173366	14284395	120722121	799	89952											
PDE3B	5140	broad.mit.edu	37	chr11	14808053	14808053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatatggtgtcagatcttcTgactgatccaagccttccac	7	12	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:14808053T>C	uc001mln.2	+	3	1453	c.1100T>C	c.(1099-1101)CTG>CCG	p.L367P	PDE3B_uc010rcr.1_Missense_Mutation_p.L367P	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	367					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TCAGATCTTCTGACTGATCCA	0.408													C	14808053	T	C	14808053	3	2	165	1	0	0	0	0	1	0	0	0	11638	1580	55	3	1110	3	PDE3B	11	14808053	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	523658	14808053	120198463	800	89953											
MYOD1	4654	broad.mit.edu	37	chr11	17741405	17741405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgctcctttgccacaAcggacgacttctatgacgac	7	15	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:17741405A>G	uc001mni.2	+	1	296	c.76A>G	c.(76-78)ACG>GCG	p.T26A		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	26					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						CTTTGCCACAACGGACGACTT	0.657													G	17741405	A	G	17741405	3	3	165	1	0	0	0	0	1	0	0	0	10088	43	2	3	78	3	MYOD1	11	17741405	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2933352	17741405	117265111	801	89954											
ANO3	63982	broad.mit.edu	37	chr11	26563573	26563573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatatgagcgctgggcacGctggggaatgtggtataagc	15	6	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:26563573G>A	uc001mqt.3	+	11	1257	c.1112G>A	c.(1111-1113)CGC>CAC	p.R371H	ANO3_uc010rdr.1_Missense_Mutation_p.R355H|ANO3_uc010rds.1_Missense_Mutation_p.R210H|ANO3_uc010rdt.1_Missense_Mutation_p.R225H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	371	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CGCTGGGCACGCTGGGGAATG	0.408													A	26563573	G	A	26563573	3	1	165	1	0	0	0	0	1	0	0	0	698	1087	38	1	1154	1	ANO3	11	26563573	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	8822168	26563573	108442943	802	89955											
DCDC1	341019	broad.mit.edu	37	chr11	31327168	31327168	+	Frame_Shift_Del	DEL	T	T	-													tagatcttttttacctttaaTttttttgaatggatttaaaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:31327167_31327167AT>A	uc001msv.3	-	5	987	c.749_749AT>T	c.(748-750)attfs	p.I250fs	DCDC5_uc001msu.2_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	250	Doublecortin.				intracellular signal transduction			p.K249E(1)		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)					TTTACCTTTAATTTTTTTGAA	0.383													-	31327168	T	-	31327168	7	5	165	1	0	1	0	1	0	0	0	0	4284	1493	52	0	332	0	DCDC1	11	31327168	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	4763595	31327168	103679348	803	89956											
ELF5	2001	broad.mit.edu	37	chr11	34515034	34515034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacactgaccttgtgtgCggatgttctggaggatgaag	14	7	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:34515034C>T	uc001mvo.1	-	3	607	c.377G>A	c.(376-378)CGC>CAC	p.R126H	ELF5_uc001mvp.1_Missense_Mutation_p.R116H|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.R116H	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	126	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ACCTTGTGTGCGGATGTTCTG	0.552											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34515034	C	T	34515034	3	4	165	1	0	0	0	0	1	0	0	0	5057	768	27	1	440	1	ELF5	11	34515034	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3187866	34515034	100491482	804	89957											
ACCSL	390110	broad.mit.edu	37	chr11	44069845	44069845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcctacagtctggggccGcgagtggcctggagctccaa	13	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:44069845G>A	uc001mxw.1	+	1	315	c.259G>A	c.(259-261)GCG>ACG	p.A87T	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	87							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						GTCTGGGGCCGCGAGTGGCCT	0.577													A	44069845	G	A	44069845	3	1	165	1	0	0	0	0	1	0	0	0	134	1087	38	1	261	1	ACCSL	11	44069845	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	9554811	44069845	90936671	805	89958											
ALX4	60529	broad.mit.edu	37	chr11	44286624	44286624	+	Frame_Shift_Del	DEL	G	G	-													cgctgctggccccagagccaGgggggtgggcatgaggggac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:44286623_44286623AG>A	uc001myb.3	-	3	1121	c.1017_1017CT>T	c.(1015-1017)cctfs	p.P339fs		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	339					hair follicle development			p.P338L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCCAGAGCCAGGGGGGTGGG	0.692													-	44286624	G	-	44286624	7	5	165	1	0	1	0	1	0	0	0	0	558	1000	35	0	223	0	ALX4	11	44286624	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	216779	44286624	90719892	806	89959											
ALX4	60529	broad.mit.edu	37	chr11	44331611	44331611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgcaagtctcagcattcAtgcctggcttgcgcaggcgg	13	12	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:44331611A>G	uc001myb.2	-	1	106	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	1					hair follicle development						0						CTCAGCATTCATGCCTGGCTT	0.697													G	44331611	A	G	44331611	3	3	165	1	0	0	0	0	1	0	0	0	558	217	8	3	1249	3	ALX4	11	44331611	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	44987	44331611	90674905	807	89960											
SLC35C1	55343	broad.mit.edu	37	chr11	45832397	45832397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgggcaccgtcttcggCgtgctggctagcctctgtgt	15	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:45832397C>T	uc001nbp.2	+	2	1318	c.606C>T	c.(604-606)GGC>GGT	p.G202G	SLC35C1_uc001nbo.2_Silent_p.G189G|SLC35C1_uc010rgm.1_Silent_p.G189G	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	202	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		CCGTCTTCGGCGTGCTGGCTA	0.572													T	45832397	C	T	45832397	2	4	165	1	0	0	0	0	0	0	0	1	14579	755	27	1		1	SLC35C1	11	45832397	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1500786	45832397	89174119	808	89961											
MTCH2	23788	broad.mit.edu	37	chr11	47660521	47660521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatcaaaggcacttaccaTaactaaagagaccaggaagc	7	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:47660521T>C	uc010rho.1	-	2	359	c.170A>G	c.(169-171)TAT>TGT	p.Y57C	MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	57	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane					0						GCACTTACCATAACTAAAGAG	0.388													C	47660521	T	C	47660521	3	2	165	1	0	0	0	0	1	0	0	0	9914	1406	49	3	789	3	MTCH2	11	47660521	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1828124	47660521	87345995	809	89962											
OR4C15	81309	broad.mit.edu	37	chr11	55322161	55322161	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggatgcgtgcttcTcatctgtcatcaccccaaag	7	15	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:55322161T>A	uc010rig.1	+	1	379	c.379T>A	c.(379-381)TCA>ACA	p.S127T		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGCGTGCTTCTCATCTGTCAT	0.458										HNSCC(20;0.049)			A	55322161	T	A	55322161	3	1	165	1	0	0	0	0	1	0	0	0	11048	1551	54	5	381	5	OR4C15	11	55322161	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	7661640	55322161	79684355	810	89963											
OR5D16	390144	broad.mit.edu	37	chr11	55606335	55606335	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctttgtatttctggcagtCtacggcttcagtgtggtagg	12	7	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:55606335C>A	uc010rio.1	+	1	108	c.108C>A	c.(106-108)GTC>GTA	p.V36V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TTCTGGCAGTCTACGGCTTCA	0.438													A	55606335	C	A	55606335	2	1	165	1	0	0	0	0	0	0	0	1	11156	900	32	5		5	OR5D16	11	55606335	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	284174	55606335	79400181	811	89964											
OR5T2	219464	broad.mit.edu	37	chr11	56000059	56000059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggataggctaaatgtAgccactgtatgtatagtagc	11	6	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:56000059A>G	uc010rjc.1	-	1	603	c.603T>C	c.(601-603)GCT>GCC	p.A201A		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	201	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GGCTAAATGTAGCCACTGTAT	0.433													G	56000059	A	G	56000059	2	3	165	1	0	0	0	0	0	0	0	1	11182	407	15	3		3	OR5T2	11	56000059	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	393724	56000059	79006457	812	89965											
PRG2	5553	broad.mit.edu	37	chr11	57156097	57156097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgaccctggttgagcgCgctgacagaacactggattc	12	11	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:57156097C>T	uc001njz.2	-	3	478	c.451G>A	c.(451-453)GCG>ACG	p.A151T	PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.A151T|PRG2_uc001nkb.2_Missense_Mutation_p.A151T|PRG2_uc001nkd.2_Missense_Mutation_p.A140T|PRG2_uc001nkc.2_Missense_Mutation_p.A151T|PRG2_uc001nke.2_Missense_Mutation_p.A431T	NM_002728	NP_002719	P13727	PRG2_HUMAN	proteoglycan 2 preproprotein	151	C-type lectin.				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1				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)	Sargramostim(DB00020)	TGGTTGAGCGCGCTGACAGAA	0.507													T	57156097	C	T	57156097	3	4	165	1	0	0	0	0	1	0	0	0	12479	768	27	1	229	1	PRG2	11	57156097	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1156038	57156097	77850419	813	89966											
CTNND1	1500	broad.mit.edu	37	chr11	57569578	57569578	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggacgtgaccaggataacAagattgccataaaaaactgt	9	7	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:57569578A>T	uc001nmc.3	+	7	1901	c.1330A>T	c.(1330-1332)AAG>TAG	p.K444*	CTNND1_uc001nlh.1_Nonsense_Mutation_p.K444*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nls.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nme.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nll.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.K121*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.K121*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nly.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nma.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nln.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nli.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.K343*	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	444	ARM 3.				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(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				CCAGGATAACAAGATTGCCAT	0.468													T	57569578	A	T	57569578	4	4	165	1	0	0	0	0	0	1	0	0	4019	131	5	5	1348	5	CTNND1	11	57569578	Nonsense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	413481	57569578	77436938	814	89967											
FAM111A	63901	broad.mit.edu	37	chr11	58920618	58920618	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgatccctcagggtcagCgagcaaagaaatgtcaggaa	12	9	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:58920618C>T	uc010rkp.1	+	5	1704	c.1477C>T	c.(1477-1479)CGA>TGA	p.R493*	FAM111A_uc010rkq.1_Nonsense_Mutation_p.R493*|FAM111A_uc010rkr.1_Nonsense_Mutation_p.R493*|FAM111A_uc001nno.2_Nonsense_Mutation_p.R493*|FAM111A_uc001nnp.2_Nonsense_Mutation_p.R493*|FAM111A_uc001nnq.2_Nonsense_Mutation_p.R493*	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	493					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				TCAGGGTCAGCGAGCAAAGAA	0.398													T	58920618	C	T	58920618	4	4	165	1	0	0	0	0	0	1	0	0	5399	760	27	1	1483	1	FAM111A	11	58920618	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1351040	58920618	76085898	815	89968											
SLC22A6	9356	broad.mit.edu	37	chr11	62744860	62744860	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccattcccatgcctgtctgcCtgcagggcccgcagcagatg	11	16	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:62744860C>A	uc001nwk.2	-	9	1669	c.1362_splice	c.e9-1	p.R454_splice	SLC22A6_uc001nwl.2_Intron|SLC22A6_uc001nwj.2_Splice_Site_p.R454_splice|SLC22A6_uc001nwm.2_Intron	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a						alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						GCCTGTCTGCCTGCAGGGCCC	0.627													A	62744860	C	A	62744860	5	1	165	1	0	0	0	0	0	0	1	0	14458	695	24	5	338	5	SLC22A6	11	62744860	Splice_Site	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3824242	62744860	72261656	816	89969											
SLC22A10	387775	broad.mit.edu	37	chr11	63069976	63069976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatattgttcatgttcctgGtgggcctttccattttggcc	10	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:63069976G>A	uc009yor.2	+	7	1454	c.1246G>A	c.(1246-1248)GTG>ATG	p.V416M	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	416	Helical; (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CATGTTCCTGGTGGGCCTTTC	0.443													A	63069976	G	A	63069976	3	1	165	1	0	0	0	0	1	0	0	0	14441	1261	44	4	1272	4	SLC22A10	11	63069976	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	325116	63069976	71936540	817	89970											
GPR137	56834	broad.mit.edu	37	chr11	64055863	64055863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctacctggtatttggcctcAtcctcttcgtgtgggagcta	11	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:64055863A>G	uc001nzg.1	+	6	1143	c.835A>G	c.(835-837)ATC>GTC	p.I279V	GPR137_uc010rni.1_Missense_Mutation_p.I337V|GPR137_uc001nzf.2_Missense_Mutation_p.I229V|GPR137_uc001nzi.2_Missense_Mutation_p.I279V|GPR137_uc010rnj.1_Missense_Mutation_p.I279V|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	279	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						ATTTGGCCTCATCCTCTTCGT	0.627													G	64055863	A	G	64055863	3	3	165	1	0	0	0	0	1	0	0	0	6645	217	8	3	1035	3	GPR137	11	64055863	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	985887	64055863	70950653	818	89971											
CLCF1	23529	broad.mit.edu	37	chr11	67133087	67133087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctcgttgaaagggggGcccaggtagttcagctgtga	16	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:67133087G>A	uc001okq.2	-	3	394	c.198C>T	c.(196-198)GGC>GGT	p.G66G	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Silent_p.G56G	NM_013246	NP_037378	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1 precursor	66					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				0			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			TGAAAGGGGGGCCCAGGTAGT	0.592													A	67133087	G	A	67133087	2	1	165	1	0	0	0	0	0	0	0	1	3461	1190	42	2		2	CLCF1	11	67133087	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3077224	67133087	67873429	819	89972											
MTL5	9633	broad.mit.edu	37	chr11	68480770	68480770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaattcttcaggcagcCtgacctcctgcagttgcacc	9	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:68480770C>A	uc001ooc.2	-	8	1266	c.1126G>T	c.(1126-1128)GGC>TGC	p.G376C		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	376	CXC 2.				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TTCAGGCAGCCTGACCTCCTG	0.463													A	68480770	C	A	68480770	3	1	165	1	0	0	0	0	1	0	0	0	9936	681	24	5	412	5	MTL5	11	68480770	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1347683	68480770	66525746	820	89973											
CTTN	2017	broad.mit.edu	37	chr11	70277339	70277339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgccccctgtgtcgcccGcacctcagccaaccgaggag	10	18	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:70277339G>A	uc001opv.3	+	15	1425	c.1219G>A	c.(1219-1221)GCA>ACA	p.A407T	CTTN_uc001opu.2_Missense_Mutation_p.A370T|CTTN_uc001opw.3_Missense_Mutation_p.A370T|CTTN_uc010rqm.1_Missense_Mutation_p.A91T|CTTN_uc001opx.2_Missense_Mutation_p.A91T	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	407						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			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)		TGTGTCGCCCGCACCTCAGCC	0.562													A	70277339	G	A	70277339	3	1	165	1	0	0	0	0	1	0	0	0	4044	1087	38	1	1269	1	CTTN	11	70277339	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1796569	70277339	64729177	821	89974											
DHCR7	1717	broad.mit.edu	37	chr11	71146556	71146556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggccatgtagatgatgtaGaagtagggcagcaggtggcc	16	6	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71146556G>C	uc001oqk.2	-	9	1543	c.1293C>G	c.(1291-1293)TTC>TTG	p.F431L	DHCR7_uc001oql.2_Missense_Mutation_p.F431L	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	431	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	AGATGATGTAGAAGTAGGGCA	0.682									Smith-Lemli-Opitz_syndrome				C	71146556	G	C	71146556	3	2	165	1	0	0	0	0	1	0	0	0	4477	933	33	5	138	5	DHCR7	11	71146556	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	869217	71146556	63859960	822	89975											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238367	71238367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggctgctgtggctgttcCgaaggctgtggctccggctg	17	10	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71238367C>T	uc001oqq.1	+	1	55	c.21C>T	c.(19-21)TCC>TCT	p.S7S		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	7						keratin filament					0						GTGGCTGTTCCGAAGGCTGTG	0.677													T	71238367	C	T	71238367	2	4	165	1	0	0	0	0	0	0	0	1	8566	639	23	1		1	KRTAP5-7	11	71238367	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	91811	71238367	63768149	823	89976											
C11orf51	25906	broad.mit.edu	37	chr11	71821194	71821194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatctcgtccatgtcctgCatatcctcatcatcctctga	4	15	5	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71821194C>T	uc001orw.2	-	5	480	c.258G>A	c.(256-258)ATG>ATA	p.M86I	LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Missense_Mutation_p.M77I|C11orf51_uc001orv.2_Missense_Mutation_p.M86I	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	86	Asp-rich.					intracellular					0						CCATGTCCTGCATatcctcat	0.363													T	71821194	C	T	71821194	3	4	165	1	0	0	0	0	1	0	0	0	1646	710	25	2	115	2	C11orf51	11	71821194	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	582827	71821194	63185322	824	89977											
INPPL1	3636	broad.mit.edu	37	chr11	71939414	71939414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcagggtgtgcctgtgcGccgcttccagaccctgggtg	15	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:71939414G>A	uc001osf.2	+	3	416	c.269G>A	c.(268-270)CGC>CAC	p.R90H	INPPL1_uc001osg.2_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	90	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GTGCCTGTGCGCCGCTTCCAG	0.662													A	71939414	G	A	71939414	3	1	165	1	0	0	0	0	1	0	0	0	7761	1087	38	1	279	1	INPPL1	11	71939414	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	118220	71939414	63067102	825	89978											
P2RY6	5031	broad.mit.edu	37	chr11	73008445	73008445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttgccagtgccaacagCgtgctggaccccatcctctt	9	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:73008445C>T	uc001otm.2	+	4	1287	c.882C>T	c.(880-882)AGC>AGT	p.S294S	P2RY6_uc001otn.2_Silent_p.S294S|P2RY6_uc001oto.2_Silent_p.S294S|P2RY6_uc001otp.2_Silent_p.S294S|P2RY6_uc001otq.2_Silent_p.S294S|P2RY6_uc001otr.2_Silent_p.S294S|P2RY6_uc001ots.2_Silent_p.S294S	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	294	Helical; Name=7; (Potential).				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			ovary(1)	1						GTGCCAACAGCGTGCTGGACC	0.617													T	73008445	C	T	73008445	2	4	165	1	0	0	0	0	0	0	0	1	11354	767	27	1		1	P2RY6	11	73008445	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1069031	73008445	61998071	826	89979											
OMP	4975	broad.mit.edu	37	chr11	76814096	76814096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcgagcgctggaatgtcGtgctggacaagccgggcaag	16	9	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:76814096G>A	uc010rsk.1	+	1	211	c.211G>A	c.(211-213)GTG>ATG	p.V71M	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	71					sensory perception of smell|synaptic transmission						0						CTGGAATGTCGTGCTGGACAA	0.627													A	76814096	G	A	76814096	3	1	165	1	0	0	0	0	1	0	0	0	10867	1145	40	1	213	1	OMP	11	76814096	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3805651	76814096	58192420	827	89980											
RSF1	51773	broad.mit.edu	37	chr11	77386206	77386206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtgtcgcctcagtctaCggctacaaaagtcagtgtca	12	10	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:77386206C>T	uc001oyn.2	-	14	3557	c.3437G>A	c.(3436-3438)CGT>CAT	p.R1146H	RSF1_uc001oym.2_Missense_Mutation_p.R894H	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1146	Arg-rich.				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			ovary(2)|central_nervous_system(2)	4	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)			CCTCAGTCTACGGCTACAAAA	0.463													T	77386206	C	T	77386206	3	4	165	1	0	0	0	0	1	0	0	0	13699	536	19	1	900	1	RSF1	11	77386206	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	572110	77386206	57620310	828	89981											
RSF1	51773	broad.mit.edu	37	chr11	77389135	77389135	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgacaaacacatacctccTccatcggcttctttgatgtc	5	14	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:77389135T>C	uc001oyn.2	-	12	3249	c.3129A>G	c.(3127-3129)GGA>GGG	p.G1043G	RSF1_uc001oym.2_Silent_p.G791G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1043					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			ovary(2)|central_nervous_system(2)	4	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)			ACATACCTCCTCCATCGGCTT	0.378													C	77389135	T	C	77389135	2	2	165	1	0	0	0	0	0	0	0	1	13699	1538	54	3		3	RSF1	11	77389135	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2929	77389135	57617381	829	89982											
INTS4	92105	broad.mit.edu	37	chr11	77672098	77672098	+	Frame_Shift_Del	DEL	T	T	-													gcagctaggccttctgcatcTtttgtgacacttttctccaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:77672097_77672097CT>C	uc001oys.3	-	4	587	c.559_559AG>G	c.(559-561)gatfs	p.D187fs	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Frame_Shift_Del_p.D187fs	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	187					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)			CCTTCTGCATCTTTTGTGACA	0.428													-	77672098	T	-	77672098	7	5	165	1	0	1	0	1	0	0	0	0	7780	1606	56	0	2409	0	INTS4	11	77672098	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	282963	77672098	57334418	830	89983											
PCF11	51585	broad.mit.edu	37	chr11	82877337	82877337	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataacagaagagtcagaaaaAcaggggacaaaaccagggag	12	6	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:82877337A>C	uc001ozx.3	+	5	1743	c.1398A>C	c.(1396-1398)AAA>AAC	p.K466N	PCF11_uc010rsu.1_Missense_Mutation_p.K466N	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	466					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AGTCAGAAAAACAGGGGACAA	0.403													C	82877337	A	C	82877337	3	2	165	1	0	0	0	0	1	0	0	0	11573	40	2	5	1416	5	PCF11	11	82877337	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5205239	82877337	52129179	831	89984											
DLG2	1740	broad.mit.edu	37	chr11	83874553	83874553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaatttctgtcccattgAcctgtaaatagggaaaaaat	6	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:83874553A>G	uc001paj.2	-	4	563	c.260T>C	c.(259-261)GTC>GCC	p.V87A	DLG2_uc001pai.2_Missense_Mutation_p.V36A|DLG2_uc010rsy.1_Missense_Mutation_p.V54A|DLG2_uc010rsz.1_Missense_Mutation_p.V87A|DLG2_uc010rta.1_Missense_Mutation_p.V87A|DLG2_uc001pak.2_Missense_Mutation_p.V192A|DLG2_uc010rtb.1_Missense_Mutation_p.V54A|DLG2_uc001pal.1_Missense_Mutation_p.V87A|DLG2_uc001pam.1_Missense_Mutation_p.V126A	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	87						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTCCCATTGACCTGTAAATA	0.328													G	83874553	A	G	83874553	3	3	165	1	0	0	0	0	1	0	0	0	4555	289	10	3	2482	3	DLG2	11	83874553	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	997216	83874553	51131963	832	89985											
FZD4	8322	broad.mit.edu	37	chr11	86663160	86663160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaactccttggctgagCggctgtataagccagcatca	11	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:86663160C>T	uc001pce.2	-	2	944	c.638G>A	c.(637-639)CGC>CAC	p.R213H	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	213	Extracellular (Potential).				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			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTGGCTGAGCGGCTGTATAA	0.502													T	86663160	C	T	86663160	3	4	165	1	0	0	0	0	1	0	0	0	6132	768	27	1	979	1	FZD4	11	86663160	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2788607	86663160	48343356	833	89986											
FAT3	120114	broad.mit.edu	37	chr11	92086520	92086520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatacaaattatctcctggTgaggatgcagtgtactttaa	9	6	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:92086520T>C	uc001pdj.3	+	1	1259	c.1242T>C	c.(1240-1242)GGT>GGC	p.G414G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	414	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATCTCCTGGTGAGGATGCAG	0.418										TCGA Ovarian(4;0.039)			C	92086520	T	C	92086520	2	2	165	1	0	0	0	0	0	0	0	1	5691	1683	59	3		3	FAT3	11	92086520	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	5423360	92086520	42919996	834	89987											
DYNC2H1	79659	broad.mit.edu	37	chr11	103091455	103091455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtaattagagatattcTtgaaggagttttaaggttga	11	1	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:103091455T>G	uc001pho.2	+	57	9194	c.9050T>G	c.(9049-9051)CTT>CGT	p.L3017R	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3017R|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3017	Stalk (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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGATATTCTTGAAGGAGTT	0.353													G	103091455	T	G	103091455	3	3	165	1	0	0	0	0	1	0	0	0	4846	1609	56	5	9276	5	DYNC2H1	11	103091455	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	11004935	103091455	31915061	835	89988											
DDI1	414301	broad.mit.edu	37	chr11	103907607	103907607	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccgaggtcaccttctctctCcaggtcagccccgactttga	8	16	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:103907607C>G	uc001phr.2	+	1	300	c.57C>G	c.(55-57)CTC>CTG	p.L19L	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	19	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		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)		CCTTCTCTCTCCAGGTCAGCC	0.527													G	103907607	C	G	103907607	2	3	165	1	0	0	0	0	0	0	0	1	4328	842	30	5		5	DDI1	11	103907607	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	816152	103907607	31098909	836	89989											
EXPH5	23086	broad.mit.edu	37	chr11	108385274	108385274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctgtcaaaacacagCgaagtactgccaaaagtatt	8	10	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:108385274C>T	uc001pkk.2	-	6	1071	c.960G>A	c.(958-960)TCG>TCA	p.S320S	EXPH5_uc010rvy.1_Silent_p.S132S|EXPH5_uc010rvz.1_Silent_p.S164S|EXPH5_uc010rwa.1_Silent_p.S244S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	320					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		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)		CAAAACACAGCGAAGTACTGC	0.448													T	108385274	C	T	108385274	2	4	165	1	0	0	0	0	0	0	0	1	5322	755	27	1		1	EXPH5	11	108385274	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4477667	108385274	26621242	837	89990											
ARHGAP20	57569	broad.mit.edu	37	chr11	110494969	110494969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttctcccacttcatcCacacagcttgctgtccacat	4	17	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:110494969C>T	uc001pkz.1	-	5	705	c.420G>A	c.(418-420)GTG>GTA	p.V140V	ARHGAP20_uc001pky.1_Silent_p.V117V|ARHGAP20_uc009yyb.1_Silent_p.V104V|ARHGAP20_uc001pla.1_Silent_p.V104V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	140	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		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)		CCACTTCATCCACACAGCTTG	0.373													T	110494969	C	T	110494969	2	4	165	1	0	0	0	0	0	0	0	1	870	581	21	4		4	ARHGAP20	11	110494969	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2109695	110494969	24511547	838	89991											
TTC12	54970	broad.mit.edu	37	chr11	113187019	113187019	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagatttgcagaaatttcttAaaaatgtggatgaaatctgt	8	3	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:113187019A>T	uc001pnu.2	+	2	145	c.40A>T	c.(40-42)AAA>TAA	p.K14*	TTC12_uc001pnv.2_Nonsense_Mutation_p.K14*|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_5'UTR	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	14							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAATTTCTTAAAAATGTGGA	0.333													T	113187019	A	T	113187019	4	4	165	1	0	0	0	0	0	1	0	0	16676	363	13	5	42	5	TTC12	11	113187019	Nonsense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2692050	113187019	21819497	839	89992											
CADM1	23705	broad.mit.edu	37	chr11	115088652	115088652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatgttaactcaagcgcgtCcccttcccgggttaagcctt	8	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:115088652C>T	uc001ppi.3	-	6	910	c.781G>A	c.(781-783)GAC>AAC	p.D261N	CADM1_uc001ppf.3_Missense_Mutation_p.D261N|CADM1_uc001ppk.3_Missense_Mutation_p.D261N|CADM1_uc001ppj.3_Missense_Mutation_p.D261N|CADM1_uc001ppl.2_Missense_Mutation_p.D261N|CADM1_uc001pph.3_Missense_Mutation_p.D13N	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	261	Ig-like C2-type 2.|Extracellular (Potential).				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			ovary(2)	2	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)		TCAAGCGCGTCCCCTTCCCGG	0.458													T	115088652	C	T	115088652	3	4	165	1	0	0	0	0	1	0	0	0	2566	855	30	4	567	4	CADM1	11	115088652	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1901633	115088652	19917864	840	89993											
APOA5	116519	broad.mit.edu	37	chr11	116661524	116661524	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctgcacgcgcagggCcacctgctccatcagatcca	9	18	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:116661524C>G	uc001ppr.2	-	3	429	c.421G>C	c.(421-423)GCC>CCC	p.A141P	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.A141P|APOA5_uc009yzf.2_Missense_Mutation_p.A141P|APOA5_uc009yzg.2_Missense_Mutation_p.A167P	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	141	Potential.				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		ACGCGCAGGGCCACCTGCTCC	0.647													G	116661524	C	G	116661524	3	3	165	1	0	0	0	0	1	0	0	0	784	739	26	5	683	5	APOA5	11	116661524	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1572872	116661524	18344992	841	89994											
MLL	4297	broad.mit.edu	37	chr11	118344186	118344186	+	Frame_Shift_Del	DEL	C	C	-													ttctgagctctcacctctcaCccccccgtcttctgtctctt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:118344185_118344185AC>A	uc001pta.3	+	2	2334	c.2311_2311AC>A	c.(2311-2313)accfs	p.T771fs	MLL_uc001ptb.3_Frame_Shift_Del_p.T771fs|MLL_uc001psz.1_Frame_Shift_Del_p.T804fs|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	771					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCACCTCTCACCCCCCCGTC	0.453			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								-	118344186	C	-	118344186	7	5	165	1	0	1	0	1	0	0	0	0	9620	507	18	0	2322	0	MLL	11	118344186	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	1682662	118344186	16662330	842	89995											
PHLDB1	23187	broad.mit.edu	37	chr11	118495754	118495754	+	Frame_Shift_Del	DEL	C	C	-													cagggggccgagcccctgggCccccctacagccctgttcct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:118495753_118495753GC>G	uc001ptr.2	+	5	812	c.459_459GC>G	c.(457-459)gggfs	p.G153fs	PHLDB1_uc010ryh.1_Frame_Shift_Del_p.G153fs|PHLDB1_uc001pts.3_Frame_Shift_Del_p.G153fs|PHLDB1_uc001ptt.3_Frame_Shift_Del_p.G153fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	153										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)		GAGCCCCTGGGCCCCCCTACA	0.612													-	118495754	C	-	118495754	7	5	165	1	0	1	0	1	0	0	0	0	11851	739	26	0	474	0	PHLDB1	11	118495754	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	151568	118495754	16510762	843	89996											
FOXR1	283150	broad.mit.edu	37	chr11	118851219	118851219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcacttcccctttttcCggacggccccggaaggctgg	12	14	0	0	rs117450447	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:118851219C>T	uc001pui.2	+	5	856	c.631C>T	c.(631-633)CGG>TGG	p.R211W	FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Missense_Mutation_p.R42W	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	211	Fork-head.				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			skin(1)	1	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)		CCCCTTTTTCCGGACGGCCCC	0.557													T	118851219	C	T	118851219	3	4	165	1	0	0	0	0	1	0	0	0	6031	643	23	1	649	1	FOXR1	11	118851219	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	355465	118851219	16155297	844	89997											
TMEM136	219902	broad.mit.edu	37	chr11	120201050	120201050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaatggtctcccccacGcctaagtggtttgtgaaggc	12	10	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:120201050G>A	uc001pxh.1	+	3	627	c.564G>A	c.(562-564)ACG>ACA	p.T188T	TMEM136_uc001pxg.2_Intron|TMEM136_uc010rzm.1_Intron|TMEM136_uc001pxj.2_Silent_p.T210T|TMEM136_uc009zas.1_Silent_p.T74T|TMEM136_uc001pxi.1_Silent_p.T74T	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	188	TLC.					integral to membrane				ovary(1)	1		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)		TCTCCCCCACGCCTAAGTGGT	0.507													A	120201050	G	A	120201050	2	1	165	1	0	0	0	0	0	0	0	1	16049	1102	38	1		1	TMEM136	11	120201050	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1349831	120201050	14805466	845	89998											
TECTA	7007	broad.mit.edu	37	chr11	120998548	120998548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgacctgacggcctcgcGgaactgcgccacgccgtgca	12	18	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:120998548G>A	uc010rzo.1	+	8	1862	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	621	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		ACGGCCTCGCGGAACTGCGCC	0.657													A	120998548	G	A	120998548	3	1	165	1	0	0	0	0	1	0	0	0	15744	1116	39	1	1892	1	TECTA	11	120998548	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	797498	120998548	14007968	846	89999											
TECTA	7007	broad.mit.edu	37	chr11	121038922	121038922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctgttgtgaagcctatgCtaaggtaaggtgtctcctgg	12	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:121038922C>T	uc010rzo.1	+	18	5746	c.5746C>T	c.(5746-5748)CTA>TTA	p.L1916L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1916	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		GAAGCCTATGCTAAGGTAAGG	0.433													T	121038922	C	T	121038922	2	4	165	1	0	0	0	0	0	0	0	1	15744	796	28	2		2	TECTA	11	121038922	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	40374	121038922	13967594	847	90000											
TECTA	7007	broad.mit.edu	37	chr11	121060508	121060508	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaatggagggtgtgagCagatttgcacgagccgggtg	18	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:121060508C>T	uc010rzo.1	+	22	6286	c.6286C>T	c.(6286-6288)CAG>TAG	p.Q2096*		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	2096					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		AGGGTGTGAGCAGATTTGCAC	0.532													T	121060508	C	T	121060508	4	4	165	1	0	0	0	0	0	1	0	0	15744	711	25	2	6372	2	TECTA	11	121060508	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	21586	121060508	13946008	848	90001											
OR8B8	26493	broad.mit.edu	37	chr11	124310278	124310278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcaggtgctgaaggctttgGacctgccctccgtggaatca	13	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:124310278G>T	uc010sal.1	-	1	704	c.704C>A	c.(703-705)TCC>TAC	p.S235Y		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		GAAGGCTTTGGACCTGCCCTC	0.473													T	124310278	G	T	124310278	3	4	165	1	0	0	0	0	1	0	0	0	11230	1174	41	5	234	5	OR8B8	11	124310278	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3249770	124310278	10696238	849	90002											
CDON	50937	broad.mit.edu	37	chr11	125875734	125875735	+	Frame_Shift_Del	DEL	GT	GT	-													caccaggttgtacgtgtctgGtgtgtgggtctgtggggggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:125875733_125875734GGT>G	uc009zbw.3	-	8	1899_1900	c.1771_1772ACC>C	c.(1771-1773)ccafs	p.P591fs	CDON_uc001qdb.4_5'Flank|CDON_uc001qdc.4_Frame_Shift_Del_p.P591fs|CDON_uc001qdd.4_Non-coding_Transcript	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	591	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)		GTACGTGTCTGGTGTGTGGGTC	0.535													-	125875735	GT	-	125875734	7	5	165	1	0	1	0	1	0	0	0	0	3170	1261	44	0	2071	0	CDON	11	125875734	Frame_Shift_Del	DEL	GT	TCGA-CG-4305-01A-01D-1158-08	1565456	125875734	9130782	850	90003											
ST3GAL4	6484	broad.mit.edu	37	chr11	126279292	126279292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgccaatgcaacagccaCggaagattaagcaggtgatg	12	10	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:126279292C>T	uc001qds.2	+	9	976	c.757C>T	c.(757-759)CGG>TGG	p.R253W	ST3GAL4_uc001qdt.2_Missense_Mutation_p.R249W|ST3GAL4_uc009zcc.2_Missense_Mutation_p.R89W|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R242W|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R249W|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R253W|ST3GAL4_uc009zce.2_Missense_Mutation_p.R249W|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R242W|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R210W|ST3GAL4_uc001qdy.2_Missense_Mutation_p.R89W|ST3GAL4_uc001qdz.2_Missense_Mutation_p.R89W	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	253	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCAACAGCCACGGAAGATTAA	0.527													T	126279292	C	T	126279292	3	4	165	1	0	0	0	0	1	0	0	0	15216	527	19	1	775	1	ST3GAL4	11	126279292	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	403558	126279292	8727224	851	90004											
ARHGAP32	9743	broad.mit.edu	37	chr11	128838937	128838937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatacgtccccatgccGccccctccaaagactcctcg	7	20	0	1	rs144742823		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:128838937G>A	uc009zcp.2	-	22	6129	c.6129C>T	c.(6127-6129)GGC>GGT	p.G2043G	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.G1002G|ARHGAP32_uc001qez.2_Silent_p.G1694G	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	2043	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			lung(3)|ovary(2)	5						TCCCCATGCCGCCCCCTCCAA	0.597													A	128838937	G	A	128838937	2	1	165	1	0	0	0	0	0	0	0	1	881	1074	38	1		1	ARHGAP32	11	128838937	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2559645	128838937	6167579	852	90005											
GLB1L2	89944	broad.mit.edu	37	chr11	134244523	134244523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagggggttgtattcatcAatggccagaaccttggacgt	13	7	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr11:134244523A>C	uc001qhp.2	+	18	1923	c.1735A>C	c.(1735-1737)AAT>CAT	p.N579H	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	579					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		TGTATTCATCAATGGCCAGAA	0.547													C	134244523	A	C	134244523	3	2	165	1	0	0	0	0	1	0	0	0	6429	130	5	5	1805	5	GLB1L2	11	134244523	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5405586	134244523	761993	853	90006											
ERC1	23085	broad.mit.edu	37	chr12	1137182	1137182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtcgaaccaacagtaCgggagggagttcgggaagca	14	10	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:1137182C>T	uc001qjb.2	+	2	354	c.113C>T	c.(112-114)ACG>ATG	p.T38M	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.T38M|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.T38M	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	38					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACCAACAGTACGGGAGGGAGT	0.577													T	1137182	C	T	1137182	3	4	165	1	0	0	0	0	1	0	0	0	5210	536	19	1	115	1	ERC1	12	1137182	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08		1137182	132714713	854	90007											
FOXM1	2305	broad.mit.edu	37	chr12	2983600	2983600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaacaggaaggggcagCctccgtcttttgagaatcag	12	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:2983600C>T	uc001qlf.2	-	2	310	c.45G>A	c.(43-45)AGG>AGA	p.R15R	TULP3_uc010sef.1_5'Flank|FOXM1_uc001qle.2_Silent_p.R15R|FOXM1_uc001qlg.2_Silent_p.R15R|FOXM1_uc009zea.2_Silent_p.R15R|FOXM1_uc009zeb.2_Silent_p.R15R|C12orf32_uc001qlh.2_5'Flank|C12orf32_uc010see.1_5'Flank|C12orf32_uc001qli.2_5'Flank	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	15					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|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 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			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GAAGGGGCAGCCTCCGTCTTT	0.498													T	2983600	C	T	2983600	2	4	165	1	0	0	0	0	0	0	0	1	6018	738	26	2		2	FOXM1	12	2983600	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1846418	2983600	130868295	855	90008											
KCNA1	3736	broad.mit.edu	37	chr12	5020676	5020676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtggtgatcaacatctcCgggctgcgcttcgagacgca	13	13	2	2	rs139476802		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:5020676C>T	uc001qnh.2	+	2	1237	c.132C>T	c.(130-132)TCC>TCT	p.S44S		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	44					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAACATCTCCGGGCTGCGCT	0.672													T	5020676	C	T	5020676	2	4	165	1	0	0	0	0	0	0	0	1	8001	639	23	1		1	KCNA1	12	5020676	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2037076	5020676	128831219	856	90009											
KCNA5	3741	broad.mit.edu	37	chr12	5153669	5153669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcacggcgtccctgcaccAccagcgcgtccacatcaaca	10	18	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:5153669A>G	uc001qni.2	+	1	585	c.356A>G	c.(355-357)CAC>CGC	p.H119R		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	119						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TCCCTGCACCACCAGCGCGTC	0.706													G	5153669	A	G	5153669	3	3	165	1	0	0	0	0	1	0	0	0	8006	159	6	3	358	3	KCNA5	12	5153669	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	132993	5153669	128698226	857	90010											
VWF	7450	broad.mit.edu	37	chr12	6161823	6161823	+	Frame_Shift_Del	DEL	G	G	-													tctcatccatgtagagccctGgggggcagaagcagccctcc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:6161822_6161822TG>T	uc001qnn.1	-	15	2323	c.2073_2073CA>A	c.(2071-2073)ccafs	p.P691fs	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	691	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			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)	TGTAGAGCCCTGGGGGGCAGA	0.612													-	6161823	G	-	6161823	7	5	165	1	0	1	0	1	0	0	0	0	17243	1348	47	0	6517	0	VWF	12	6161823	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1008154	6161823	127690072	858	90011											
VWF	7450	broad.mit.edu	37	chr12	6161888	6161888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggtaagagagagagcgGcaggtcaggttgcagggggt	20	6	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:6161888G>A	uc001qnn.1	-	16	2257	c.2007C>T	c.(2005-2007)TGC>TGT	p.C669C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	669	TIL 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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGAGAGAGCGGCAGGTCAGGT	0.612													A	6161888	G	A	6161888	2	1	165	1	0	0	0	0	0	0	0	1	17243	1195	42	2		2	VWF	12	6161888	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	65	6161888	127690007	859	90012											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6439831	6439831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgaagaggagggataaAaggcaaagaccaaagaaaat	11	5	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:6439831A>G	uc001qnu.2	-	7	953	c.672T>C	c.(670-672)CTT>CTC	p.L224L	TNFRSF1A_uc001qnt.2_Silent_p.L116L|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Silent_p.L116L|TNFRSF1A_uc009zek.2_Silent_p.L181L	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	224	Helical; (Potential).				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			lung(2)|skin(1)	3						GGAGGGATAAAAGGCAAAGAC	0.547													G	6439831	A	G	6439831	2	3	165	1	0	0	0	0	0	0	0	1	16290	1	1	3		3	TNFRSF1A	12	6439831	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	277943	6439831	127412064	860	90013											
CLSTN3	9746	broad.mit.edu	37	chr12	7288865	7288865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgttccctggtatccGcctggagacctgtgatgaac	12	11	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:7288865G>A	uc001qsr.2	+	6	1084	c.806G>A	c.(805-807)CGC>CAC	p.R269H	CLSTN3_uc001qss.2_Missense_Mutation_p.R281H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	269	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CCTGGTATCCGCCTGGAGACC	0.557													A	7288865	G	A	7288865	3	1	165	1	0	0	0	0	1	0	0	0	3563	1087	38	1	828	1	CLSTN3	12	7288865	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	849034	7288865	126563030	861	90014											
SLC2A14	144195	broad.mit.edu	37	chr12	7967113	7967113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgaagataataaaaacGtaggctcctaaatagtacta	8	7	0	2	rs146444974	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:7967113G>A	uc001qtk.2	-	16	2155	c.1362C>T	c.(1360-1362)TAC>TAT	p.Y454Y	SLC2A14_uc001qtl.2_Silent_p.Y431Y|SLC2A14_uc001qtm.2_Silent_p.Y431Y|SLC2A14_uc010sgg.1_Silent_p.Y345Y|SLC2A14_uc001qtn.2_Silent_p.Y454Y|SLC2A14_uc001qto.2_Silent_p.Y89Y|SLC2A14_uc010sgh.1_Silent_p.Y469Y	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	454	Helical; Name=12; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		TAATAAAAACGTAGGCTCCTA	0.398													A	7967113	G	A	7967113	2	1	165	1	0	0	0	0	0	0	0	1	14543	1140	40	1		1	SLC2A14	12	7967113	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	678248	7967113	125884782	862	90015											
A2M	2	broad.mit.edu	37	chr12	9246106	9246106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtctcagggaagtactttCgtacggtctccgtgtgaggc	13	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:9246106C>T	uc001qvk.1	-	18	2308	c.2195G>A	c.(2194-2196)CGA>CAA	p.R732Q	A2M_uc009zgk.1_Missense_Mutation_p.R582Q	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	732	Inhibitory.				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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GAAGTACTTTCGTACGGTCTC	0.458													T	9246106	C	T	9246106	3	4	165	1	0	0	0	0	1	0	0	0	4	884	31	1	2305	1	A2M	12	9246106	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1278993	9246106	124605789	863	90016											
PZP	5858	broad.mit.edu	37	chr12	9309872	9309872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaatgccttggtgtagAcatggctcccatgggtcccc	11	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:9309872A>G	uc001qvl.2	-	28	3478	c.3449T>C	c.(3448-3450)GTC>GCC	p.V1150A	PZP_uc009zgl.2_Missense_Mutation_p.V936A	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CTTGGTGTAGACATGGCTCCC	0.463													G	9309872	A	G	9309872	3	3	165	1	0	0	0	0	1	0	0	0	12869	275	10	3	1035	3	PZP	12	9309872	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	63766	9309872	124542023	864	90017											
KLRD1	3824	broad.mit.edu	37	chr12	10462078	10462078	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaattttgttgaaaaaTtgtaagtttttctaagcaag	9	2	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:10462078T>A	uc001qxw.3	+	3	296	c.99T>A	c.(97-99)AAT>AAA	p.N33K	KLRD1_uc001qxx.3_Missense_Mutation_p.N33K|KLRD1_uc001qxy.3_Intron|KLRD1_uc009zhh.2_Missense_Mutation_p.N33K|KLRD1_uc009zhi.2_Missense_Mutation_p.N33K|KLRD1_uc001qxz.3_Missense_Mutation_p.N33K	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,	33	Extracellular (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						TGTTGAAAAATTGTAAGTTTT	0.323													A	10462078	T	A	10462078	3	1	165	1	0	0	0	0	1	0	0	0	8419	1507	52	5	105	5	KLRD1	12	10462078	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1152206	10462078	123389817	865	90018											
KLRC1	3821	broad.mit.edu	37	chr12	10603715	10603715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctctttgggtttgggGgcagattcaggtctgagtag	16	7	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:10603715G>A	uc001qyl.2	-	2	205	c.41C>T	c.(40-42)CCC>CTC	p.P14L	KLRC1_uc009zhm.1_Missense_Mutation_p.P14L|KLRC1_uc001qym.2_Missense_Mutation_p.P14L|KLRC1_uc001qyn.2_Missense_Mutation_p.P14L|KLRC1_uc001qyo.2_Missense_Mutation_p.P14L	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	14	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						TGGGTTTGGGGGCAGATTCAG	0.388													A	10603715	G	A	10603715	3	1	165	1	0	0	0	0	1	0	0	0	8415	1232	43	4	684	4	KLRC1	12	10603715	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	141637	10603715	123248180	866	90019											
ETV6	2120	broad.mit.edu	37	chr12	11992235	11992235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctatcgatctcctcatTcaggtgagagtctggactct	9	11	5	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:11992235T>G	uc001qzz.2	+	3	599	c.325T>G	c.(325-327)TCA>GCA	p.S109A		NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	109	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ATCTCCTCATTCAGGTGAGAG	0.468			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								G	11992235	T	G	11992235	3	3	165	1	0	0	0	0	1	0	0	0	5283	1783	62	5	335	5	ETV6	12	11992235	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1388520	11992235	121859660	867	90020											
MANSC1	54682	broad.mit.edu	37	chr12	12483888	12483888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatttctggtcaaagatggAaaatctgaaaatgtatggaa	9	3	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:12483888A>G	uc001rai.1	-	4	627	c.369T>C	c.(367-369)TTT>TTC	p.F123F	MANSC1_uc010shm.1_Silent_p.F57F|MANSC1_uc001raj.1_Silent_p.F89F|MANSC1_uc009zht.1_Silent_p.F42F	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	123	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TCAAAGATGGAAAATCTGAAA	0.393													G	12483888	A	G	12483888	2	3	165	1	0	0	0	0	0	0	0	1	9224	243	9	3		3	MANSC1	12	12483888	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	491653	12483888	121368007	868	90021											
DUSP16	80824	broad.mit.edu	37	chr12	12630143	12630143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggggggccaagatatccGagtgccagcccttaaggccc	13	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:12630143G>A	uc001rao.1	-	7	2254	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S393L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	541					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				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CAAGATATCCGAGTGCCAGCC	0.577													A	12630143	G	A	12630143	3	1	165	1	0	0	0	0	1	0	0	0	4816	1059	37	1	379	1	DUSP16	12	12630143	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	146255	12630143	121221752	869	90022											
PLEKHA5	54477	broad.mit.edu	37	chr12	19410381	19410381	+	Frame_Shift_Del	DEL	A	A	-													atttagacttcacgagcttcAaaaaaagttcataattttgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:19410380_19410380CA>C	uc001reb.3	+	5	554	c.446_446CA>C	c.(445-447)tcafs	p.S149fs	PLEKHA5_uc010sie.2_Frame_Shift_Del_p.S149fs|PLEKHA5_uc001rea.3_Frame_Shift_Del_p.S149fs|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Frame_Shift_Del_p.S41fs|PLEKHA5_uc010sih.1_Frame_Shift_Del_p.S41fs|PLEKHA5_uc021qvy.1_Frame_Shift_Del_p.S41fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	149							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)					TCACGAGCTTCAAAAAAAGTT	0.323													-	19410381	A	-	19410381	7	5	165	1	0	1	0	1	0	0	0	0	12059	117	5	0	469	0	PLEKHA5	12	19410381	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	6780238	19410381	114441514	870	90023											
PYROXD1	79912	broad.mit.edu	37	chr12	21605065	21605065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaataatgatcatagggaaCggtggtattgcacttgagtt	12	4	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:21605065C>T	uc001rew.2	+	5	592	c.465C>T	c.(463-465)AAC>AAT	p.N155N	PYROXD1_uc009ziq.2_Intron|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	155							oxidoreductase activity			ovary(1)	1						TCATAGGGAACGGTGGTATTG	0.224													T	21605065	C	T	21605065	2	4	165	1	0	0	0	0	0	0	0	1	12866	535	19	1		1	PYROXD1	12	21605065	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2194684	21605065	112246830	871	90024											
ABCC9	10060	broad.mit.edu	37	chr12	21954066	21954066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catattctaaaatatttcctCgcttcatcacaataaccagg	3	11	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:21954066C>T	uc001rfh.2	-	38	4582	c.4562G>A	c.(4561-4563)CGA>CAA	p.R1521Q	ABCC9_uc001rfg.2_Missense_Mutation_p.R50Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1521	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATATTTCCTCGCTTCATCAC	0.423													T	21954066	C	T	21954066	3	4	165	1	0	0	0	0	1	0	0	0	59	884	31	1	91	1	ABCC9	12	21954066	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	349001	21954066	111897829	872	90025											
ITPR2	3709	broad.mit.edu	37	chr12	26572089	26572089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgactgctcggtacccacGggtgaacgtgccacgatttc	12	12	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:26572089G>A	uc001rhg.2	-	50	7420	c.7003C>T	c.(7003-7005)CGT>TGT	p.R2335C	ITPR2_uc009zjg.1_Missense_Mutation_p.R486C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2335	Extracellular (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CGGTACCCACGGGTGAACGTG	0.433													A	26572089	G	A	26572089	3	1	165	1	0	0	0	0	1	0	0	0	7921	1116	39	1	1134	1	ITPR2	12	26572089	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4618023	26572089	107279806	873	90026											
FAR2	55711	broad.mit.edu	37	chr12	29469773	29469773	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttactttcttttttccccaGgagtccaagtcttggcaacc	6	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:29469773G>A	uc001ris.3	+	9	1103	c.956_splice	c.e9-1	p.G319_splice	FAR2_uc001rit.2_Splice_Site_p.G319_splice|FAR2_uc009zjm.2_Splice_Site_p.G222_splice|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						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				0						TTTTTCCCCAGGAGTCCAAGT	0.398													A	29469773	G	A	29469773	5	1	165	1	0	0	0	0	0	0	1	0	5675	1014	35	4	985	4	FAR2	12	29469773	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2897684	29469773	104382122	874	90027											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860085	42860085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtccttcatgatatacCtctgtcctcccaggaccgtt	8	15	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:42860085C>A	uc010skv.1	-	6	973	c.686G>T	c.(685-687)AGG>ATG	p.R229M	PRICKLE1_uc001rnl.2_Missense_Mutation_p.R229M|PRICKLE1_uc010skw.1_Missense_Mutation_p.R229M|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R229M	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	229	LIM zinc-binding 2.				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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATGATATACCTCTGTCCTCC	0.498													A	42860085	C	A	42860085	3	1	165	1	0	0	0	0	1	0	0	0	12486	681	24	5	1821	5	PRICKLE1	12	42860085	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	13390312	42860085	90991810	875	90028											
SLC38A1	81539	broad.mit.edu	37	chr12	46592455	46592455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcacagcaacaatgacagCcagccgcactgtcaggatga	10	12	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:46592455C>T	uc001rpa.2	-	14	1333	c.1075G>A	c.(1075-1077)GCT>ACT	p.A359T	SLC38A1_uc001rpb.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpc.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpd.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpe.2_Missense_Mutation_p.A359T|SLC38A1_uc009zkj.1_Missense_Mutation_p.A359T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	359	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	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)			ACAATGACAGCCAGCCGCACT	0.468													T	46592455	C	T	46592455	3	4	165	1	0	0	0	0	1	0	0	0	14601	739	26	2	404	2	SLC38A1	12	46592455	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3732370	46592455	87259440	876	90029											
MLL2	8085	broad.mit.edu	37	chr12	49443676	49443676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggagccacccccctccGggtctggagagcccaggagg	15	15	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:49443676G>A	uc001rta.3	-	11	3695	c.3695C>T	c.(3694-3696)CCG>CTG	p.P1232L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1232					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACCCCCCTCCGGGTCTGGAGA	0.587			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49443676	G	A	49443676	3	1	165	1	0	0	0	0	1	0	0	0	9621	1116	39	1	13094	1	MLL2	12	49443676	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2851221	49443676	84408219	877	90030											
TUBA1B	10376	broad.mit.edu	37	chr12	49523374	49523374	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgttgaaggagtcatcTcctcccccaatggtcttgtc	10	11	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:49523374T>G	uc001rtm.2	-	2	356	c.135A>C	c.(133-135)GGA>GGC	p.G45G	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Silent_p.G10G|TUBA1B_uc001rtl.2_Silent_p.G10G|TUBA1B_uc001rtn.2_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	45					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0						AGGAGTCATCTCCTCCCCCAA	0.572													G	49523374	T	G	49523374	2	3	165	1	0	0	0	0	0	0	0	1	16741	1538	54	5		5	TUBA1B	12	49523374	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	79698	49523374	84328521	878	90031											
SPATS2	65244	broad.mit.edu	37	chr12	49893963	49893963	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccattaagaaaatgaaaCaagcctttgctgaattggag	8	8	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:49893963C>T	uc001rud.2	+	9	1803	c.814C>T	c.(814-816)CAA>TAA	p.Q272*	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Nonsense_Mutation_p.Q272*|SPATS2_uc001ruf.2_Nonsense_Mutation_p.Q272*|SPATS2_uc001rug.2_Nonsense_Mutation_p.Q272*	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	272						cytoplasm				breast(1)	1						GAAAATGAAACAAGCCTTTGC	0.383													T	49893963	C	T	49893963	4	4	165	1	0	0	0	0	0	1	0	0	15018	479	17	4	840	4	SPATS2	12	49893963	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	370589	49893963	83957932	879	90032											
BIN2	51411	broad.mit.edu	37	chr12	51693477	51693477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcatagtccacgagtttccGaccccgcttggcaattctct	8	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:51693477G>A	uc001ryg.2	-	6	482	c.430C>T	c.(430-432)CGG>TGG	p.R144W	BIN2_uc009zlz.2_Missense_Mutation_p.R112W|BIN2_uc001ryh.2_Missense_Mutation_p.R20W|BIN2_uc010sng.1_Missense_Mutation_p.R118W	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	144	BAR.					cytoplasm	protein binding			ovary(1)	1						ACGAGTTTCCGACCCCGCTTG	0.493													A	51693477	G	A	51693477	3	1	165	1	0	0	0	0	1	0	0	0	1433	1057	37	1	1299	1	BIN2	12	51693477	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1799514	51693477	82158418	880	90033											
ACVR1B	91	broad.mit.edu	37	chr12	52369163	52369163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaccatgtgcgcacctGcatccccaaagtggagctgg	13	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:52369163G>A	uc001rzn.2	+	2	248	c.206G>A	c.(205-207)TGC>TAC	p.C69Y	ACVR1B_uc001rzl.2_Missense_Mutation_p.C69Y|ACVR1B_uc001rzm.2_Missense_Mutation_p.C69Y|ACVR1B_uc010snn.1_Missense_Mutation_p.C69Y	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	69	Extracellular (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GTGCGCACCTGCATCCCCAAA	0.587													A	52369163	G	A	52369163	3	1	165	1	0	0	0	0	1	0	0	0	221	1319	46	2	212	2	ACVR1B	12	52369163	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	675686	52369163	81482732	881	90034											
ACVR1B	91	broad.mit.edu	37	chr12	52387827	52387827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgccaacggcgcagcccGcctgacggccctgcgcatca	12	17	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:52387827G>A	uc001rzn.2	+	9	1493	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	ACVR1B_uc010snn.1_Missense_Mutation_p.R525H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	484	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGCGCAGCCCGCCTGACGGCC	0.622													A	52387827	G	A	52387827	3	1	165	1	0	0	0	0	1	0	0	0	221	1087	38	1	1612	1	ACVR1B	12	52387827	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	18664	52387827	81464068	882	90035											
EIF4B	1975	broad.mit.edu	37	chr12	53428436	53428436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaactcaggaacgggaaCggtcgaggacaggaagtgag	16	6	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:53428436C>T	uc001sbh.3	+	10	1455	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	EIF4B_uc010snu.1_Missense_Mutation_p.R417W|EIF4B_uc010snv.1_Missense_Mutation_p.R378W|EIF4B_uc001sbi.2_Missense_Mutation_p.R169W	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	417					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(1)|kidney(1)	2						GGAACGGGAACGGTCGAGGAC	0.502													T	53428436	C	T	53428436	3	4	165	1	0	0	0	0	1	0	0	0	5027	527	19	1	1287	1	EIF4B	12	53428436	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1040609	53428436	80423459	883	90036											
OR6C2	341416	broad.mit.edu	37	chr12	55846644	55846644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtgtgattctgtcctActtgtacatagtcagaacaa	8	7	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:55846644A>G	uc001sgz.1	+	1	647	c.647A>G	c.(646-648)TAC>TGC	p.Y216C		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						ATTCTGTCCTACTTGTACATA	0.398													G	55846644	A	G	55846644	3	3	165	1	0	0	0	0	1	0	0	0	11191	391	14	3	649	3	OR6C2	12	55846644	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2418208	55846644	78005251	884	90037											
ZC3H10	84872	broad.mit.edu	37	chr12	56514991	56514992	+	Frame_Shift_Ins	INS	-	-	C													gccggcgaggtggatgctgcINSccccctgatggccctcattt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:56514990_56514991G>GC	uc001sjp.1	+	2	833_834	c.644_645G>GC	c.(643-645)tgcfs	p.C215fs	ZC3H10_uc021qyw.1_Frame_Shift_Ins_p.C215fs	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	215							nucleic acid binding|zinc ion binding	p.C214C(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTGGATGCTGCCCCCCTGATG	0.554													C	56514992	-	C	56514991	7	5	165	1	0	1	1	0	0	0	0	0	17556	747	26	0	647	0	ZC3H10	12	56514991	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	668347	56514991	77336904	885	90038											
GLS2	27165	broad.mit.edu	37	chr12	56867049	56867049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccgtgggtctaacttcCgagcacagtgcctcaggttg	12	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:56867049C>T	uc001slj.2	-	14	1691	c.1412G>A	c.(1411-1413)CGG>CAG	p.R471Q	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.R206Q|GLS2_uc009zot.2_Missense_Mutation_p.R132Q	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	471					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTCTAACTTCCGAGCACAGTG	0.363													T	56867049	C	T	56867049	3	4	165	1	0	0	0	0	1	0	0	0	6464	652	23	1	416	1	GLS2	12	56867049	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	352058	56867049	76984846	886	90039											
BAZ2A	11176	broad.mit.edu	37	chr12	56995394	56995394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagaaactgcagggggcGgtgtgggggcagcattgcag	18	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:56995394G>A	uc001slq.1	-	20	4207	c.4013C>T	c.(4012-4014)CCG>CTG	p.P1338L	BAZ2A_uc001slp.1_Missense_Mutation_p.P1336L|BAZ2A_uc001slo.1_Missense_Mutation_p.P166L|BAZ2A_uc009zov.1_Missense_Mutation_p.P308L|BAZ2A_uc009zow.1_Missense_Mutation_p.P1306L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1338	Pro-rich.				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				0						TGCAGGGGGCGGTGTGGGGGC	0.567													A	56995394	G	A	56995394	3	1	165	1	0	0	0	0	1	0	0	0	1331	1116	39	1	1744	1	BAZ2A	12	56995394	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	128345	56995394	76856501	887	90040											
NXPH4	11247	broad.mit.edu	37	chr12	57619197	57619197	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggggatggcagcagcAgcggcggggcccgggcttgg	21	12	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:57619197A>G	uc010srf.1	+	2	769	c.594A>G	c.(592-594)GCA>GCG	p.A198A	NXPH4_uc009zpj.2_Silent_p.A4A	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4 precursor	198	IV (linker domain).				neuropeptide signaling pathway	extracellular region					0						TGGCAGCAGCAGCGGCGGGGC	0.751													G	57619197	A	G	57619197	2	3	165	1	0	0	0	0	0	0	0	1	10793	175	7	3		3	NXPH4	12	57619197	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	623803	57619197	76232698	888	90041											
DPY19L2	283417	broad.mit.edu	37	chr12	64062022	64062022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccggggaggacctccagGagccccttggcagtttcccg	13	16	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:64062022G>A	uc001srp.1	-	1	333	c.152C>T	c.(151-153)TCC>TTC	p.S51F	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	51					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGACCTCCAGGAGCCCCTTGG	0.642													A	64062022	G	A	64062022	3	1	165	1	0	0	0	0	1	0	0	0	4741	1174	41	4	2212	4	DPY19L2	12	64062022	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	6442825	64062022	69789873	889	90042											
GRIP1	23426	broad.mit.edu	37	chr12	66838485	66838485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgatggccatcactctGtctccaatctgtagcacccc	6	16	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:66838485G>A	uc001stk.2	-	12	1651	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	GRIP1_uc010sta.1_Silent_p.D414D|GRIP1_uc001stj.2_Silent_p.D252D|GRIP1_uc001stl.1_Silent_p.D362D|GRIP1_uc001stm.2_Silent_p.D470D	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	522	PDZ 4.				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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCATCACTCTGTCTCCAATCT	0.468													A	66838485	G	A	66838485	2	1	165	1	0	0	0	0	0	0	0	1	6787	1368	48	4		4	GRIP1	12	66838485	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2776463	66838485	67013410	890	90043											
NUP107	57122	broad.mit.edu	37	chr12	69085873	69085873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgttatgttacgtgaGgatgatcctggagaagctgg	15	5	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:69085873G>T	uc001suf.2	+	5	544	c.429G>T	c.(427-429)GAG>GAT	p.E143D	NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.E114D	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	143					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTTACGTGAGGATGATCCTG	0.443													T	69085873	G	T	69085873	3	4	165	1	0	0	0	0	1	0	0	0	10753	991	35	5	447	5	NUP107	12	69085873	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2247388	69085873	64766022	891	90044											
NUP107	57122	broad.mit.edu	37	chr12	69109462	69109462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatctggatagagaagAtgaagttagattactcaaat	10	3	2	6			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:69109462A>G	uc001suf.2	+	12	1140	c.1025A>G	c.(1024-1026)GAT>GGT	p.D342G	NUP107_uc001sug.2_Missense_Mutation_p.D189G|NUP107_uc010stj.1_Missense_Mutation_p.D313G	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	342					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GATAGAGAAGATGAAGTTAGA	0.358													G	69109462	A	G	69109462	3	3	165	1	0	0	0	0	1	0	0	0	10753	333	12	3	1071	3	NUP107	12	69109462	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	23589	69109462	64742433	892	90045											
FRS2	10818	broad.mit.edu	37	chr12	69967824	69967824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggtgtgcaagaagagCggaaaaaccgcacaagtgtg	13	8	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:69967824C>T	uc001suy.2	+	10	1126	c.616C>T	c.(616-618)CGG>TGG	p.R206W	FRS2_uc001suz.2_Missense_Mutation_p.R206W|FRS2_uc009zrj.2_Missense_Mutation_p.R206W|FRS2_uc009zrk.2_Missense_Mutation_p.R206W	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	206					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			prostate(1)|kidney(1)	2	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)			GCAAGAAGAGCGGAAAAACCG	0.398													T	69967824	C	T	69967824	3	4	165	1	0	0	0	0	1	0	0	0	6061	759	27	1	634	1	FRS2	12	69967824	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	858362	69967824	63884071	893	90046											
CAPS2	84698	broad.mit.edu	37	chr12	75687145	75687145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaaatgtcaaggttgcAccctaaacaaaagaacagat	6	9	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:75687145A>G	uc001sxk.3	-	13	1301	c.1104T>C	c.(1102-1104)GGT>GGC	p.G368G	CAPS2_uc001sxm.3_Silent_p.G136G|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.3_Silent_p.G104G|CAPS2_uc001sxj.3_Silent_p.G279G|CAPS2_uc001sxl.3_Silent_p.G349G	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	368							calcium ion binding			ovary(2)	2						TCAAGGTTGCACCCTAAACAA	0.308													G	75687145	A	G	75687145	2	3	165	1	0	0	0	0	0	0	0	1	2638	146	6	3		3	CAPS2	12	75687145	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5719321	75687145	58164750	894	90047											
KRR1	11103	broad.mit.edu	37	chr12	75900126	75900126	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactaaaaggtccaatggcTgaaactgtgtttccctgaac	8	11	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:75900126T>C	uc001sxt.2	-	5	614	c.573A>G	c.(571-573)TCA>TCG	p.S191S	KRR1_uc009zsc.2_Silent_p.S191S|KRR1_uc010stx.1_3'UTR	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	191	KH.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						GTCCAATGGCTGAAACTGTGT	0.308													C	75900126	T	C	75900126	2	2	165	1	0	0	0	0	0	0	0	1	8446	1567	55	3		3	KRR1	12	75900126	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	212981	75900126	57951769	895	90048											
MYF5	4617	broad.mit.edu	37	chr12	81112677	81112678	+	Frame_Shift_Ins	INS	-	-	T													actccttatccagcttggatINStgcttatccaacatagtgga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:81112676_81112677A>AT	uc001szg.2	+	2	749_750	c.614_615A>AT	c.(613-615)gatfs	p.D205fs		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	205					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCAGCTTGGATTGCTTATCCA	0.441													T	81112678	-	T	81112677	7	5	165	1	0	1	1	0	0	0	0	0	10027	1490	52	0	625	0	MYF5	12	81112677	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	5212551	81112677	52739218	896	90049											
LRRIQ1	84125	broad.mit.edu	37	chr12	85466854	85466854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcagattgtaatttcctTatctcccacttatactggaa	4	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:85466854T>C	uc001tac.2	+	11	2976	c.2865T>C	c.(2863-2865)CTT>CTC	p.L955L	LRRIQ1_uc001tab.1_Silent_p.L955L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	955										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GTAATTTCCTTATCTCCCACT	0.239													C	85466854	T	C	85466854	2	2	165	1	0	0	0	0	0	0	0	1	9029	1741	61	3		3	LRRIQ1	12	85466854	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	4354177	85466854	48385041	897	90050											
KITLG	4254	broad.mit.edu	37	chr12	88912617	88912617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctgacaattgtactaCcatctcgcttatccaacaat	5	12	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:88912617C>T	uc001tav.2	-	4	403	c.220G>A	c.(220-222)GTA>ATA	p.V74I	KITLG_uc009zsn.2_Missense_Mutation_p.V2I|KITLG_uc001taw.2_Missense_Mutation_p.V74I|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	74	Extracellular (Potential).				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			ovary(1)	1						AATTGTACTACCATCTCGCTT	0.348									Testicular_Cancer_Familial_Clustering_of				T	88912617	C	T	88912617	3	4	165	1	0	0	0	0	1	0	0	0	8330	507	18	4	625	4	KITLG	12	88912617	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3445763	88912617	44939278	898	90051											
BTBD11	121551	broad.mit.edu	37	chr12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-													caagcaccacggcaatggcaCccccctgcaccacaagcagg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:107937777_107937777AC>A	uc001tmk.1	+	2	1872	c.1351_1351AC>A	c.(1351-1353)accfs	p.T451fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T451fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGCAATGGCACCCCCCTGCA	0.577													-	107937778	C	-	107937778	7	5	165	1	0	1	0	1	0	0	0	0	1539	507	18	0	1362	0	BTBD11	12	107937778	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	19025161	107937778	25914117	899	90052											
ASCL4	121549	broad.mit.edu	37	chr12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-													cccggactcccgcggagggaCcccctcagggtcgccctgcg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:108169096_108169096AC>A	uc001tmr.3	+	0	935	c.104_104AC>A	c.(103-105)gacfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	Homo sapiens achaete-scute complex homolog 4 (Drosophila) (ASCL4), mRNA.	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGCGGAGGGACCCCCTCAGG	0.736													-	108169097	C	-	108169097	7	5	165	1	0	1	0	1	0	0	0	0	1036	506	18	0	107	0	ASCL4	12	108169097	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	231319	108169097	25682798	900	90053											
UBE3B	89910	broad.mit.edu	37	chr12	109935694	109935694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcatgtctgtgcctgCtctggtgactcatctcagca	8	14	5	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:109935694C>A	uc001top.2	+	10	1388	c.785C>A	c.(784-786)GCT>GAT	p.A262D	UBE3B_uc001toq.2_Missense_Mutation_p.A262D|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.A262D	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	262					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						TCTGTGCCTGCTCTGGTGACT	0.473													A	109935694	C	A	109935694	3	1	165	1	0	0	0	0	1	0	0	0	16877	797	28	5	815	5	UBE3B	12	109935694	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1766597	109935694	23916201	901	90054											
TRPV4	59341	broad.mit.edu	37	chr12	110226265	110226265	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactgtctcgcccatgagGgcaatgagcatgttgaggag	13	11	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:110226265G>T	uc001tpj.1	-	12	2243	c.2148C>A	c.(2146-2148)GCC>GCA	p.A716A	TRPV4_uc001tpg.1_Silent_p.A682A|TRPV4_uc001tph.1_Silent_p.A669A|TRPV4_uc001tpi.1_Silent_p.A609A|TRPV4_uc001tpk.1_Silent_p.A716A|TRPV4_uc001tpl.1_Silent_p.A656A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	716	Cytoplasmic (Potential).		A -> S (in SMDK).		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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CGCCCATGAGGGCAATGAGCA	0.597													T	110226265	G	T	110226265	2	4	165	1	0	0	0	0	0	0	0	1	16595	1219	43	5		5	TRPV4	12	110226265	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	290571	110226265	23625630	902	90055											
ACAD10	80724	broad.mit.edu	37	chr12	112191598	112191598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcccgcttggcttttgGgaagcccctggtggagcagg	16	10	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:112191598G>T	uc001tsq.2	+	19	3040	c.2840G>T	c.(2839-2841)GGG>GTG	p.G947V	ACAD10_uc009zvx.2_Missense_Mutation_p.G978V|ACAD10_uc001tss.1_Intron	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	947							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TTGGCTTTTGGGAAGCCCCTG	0.672											OREG0022130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	112191598	G	T	112191598	3	4	165	1	0	0	0	0	1	0	0	0	108	1232	43	5	3007	5	ACAD10	12	112191598	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1965333	112191598	21660297	903	90056											
C12orf51	283450	broad.mit.edu	37	chr12	112691953	112691953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgtttgtgttaggccccGcatatatcaccaacttcaaa	6	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:112691953G>A	uc009zwc.2	-	15	2063	c.2045C>T	c.(2044-2046)GCG>GTG	p.A682V	C12orf51_uc010syk.1_Missense_Mutation_p.A514V|C12orf51_uc001tts.2_Missense_Mutation_p.A505V|C12orf51_uc001ttt.3_Missense_Mutation_p.A503V	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTTAGGCCCCGCATATATCAC	0.388													A	112691953	G	A	112691953	3	1	165	1	0	0	0	0	1	0	0	0	1696	1087	38	1	10165	1	C12orf51	12	112691953	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	500355	112691953	21159942	904	90057											
RASAL1	8437	broad.mit.edu	37	chr12	113539773	113539773	+	Frame_Shift_Del	DEL	C	C	-													atccagtgggtcactccagtCccccagggtgacagctgagt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:113539772_113539772TC>T	uc001tun.2	-	19	2451	c.2150_2150GA>A	c.(2149-2151)gacfs	p.D717fs	RASAL1_uc010syp.2_Frame_Shift_Del_p.D716fs|RASAL1_uc001tul.3_Frame_Shift_Del_p.D687fs|RASAL1_uc001tum.2_Frame_Shift_Del_p.D715fs	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	715					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			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						GTCACTCCAGTCCCCCAGGGT	0.632													-	113539773	C	-	113539773	7	5	165	1	0	1	0	1	0	0	0	0	13063	855	30	0	283	0	RASAL1	12	113539773	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	847820	113539773	20312122	905	90058											
RBM19	9904	broad.mit.edu	37	chr12	114397939	114397939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggcatgtttgctccaGgctctgggtttggccgggtc	15	10	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:114397939G>A	uc009zwi.2	-	3	408	c.264C>T	c.(262-264)GCC>GCT	p.A88A	RBM19_uc001tvn.3_Silent_p.A88A|RBM19_uc001tvm.2_Silent_p.A88A	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	88					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GTTTGCTCCAGGCTCTGGGTT	0.532													A	114397939	G	A	114397939	2	1	165	1	0	0	0	0	0	0	0	1	13121	987	35	4		4	RBM19	12	114397939	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	858166	114397939	19453956	906	90059											
HNF1A	6927	broad.mit.edu	37	chr12	121426811	121426811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtacacctggtacgtcCgcaagcagcgagaggtggcg	14	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:121426811C>T	uc001tzg.2	+	2	525	c.502C>T	c.(502-504)CGC>TGC	p.R168C	HNF1A_uc001tze.1_Missense_Mutation_p.R168C|HNF1A_uc001tzf.2_Missense_Mutation_p.R168C|HNF1A_uc010szn.1_Missense_Mutation_p.R168C	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	168					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	p.R168C(1)		liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGTACGTCCGCAAGCAGCG	0.617									Hepatic_Adenoma_Familial_Clustering_of				T	121426811	C	T	121426811	3	4	165	1	0	0	0	0	1	0	0	0	7251	652	23	1	508	1	HNF1A	12	121426811	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	7028872	121426811	12425084	907	90060											
DHX37	57647	broad.mit.edu	37	chr12	125434766	125434766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaatccacctcgatggCggggagcggccagcccacgc	14	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:125434766C>T	uc001ugy.2	-	24	3244	c.3145G>A	c.(3145-3147)GCC>ACC	p.A1049T	DHX37_uc001ugz.1_Missense_Mutation_p.A136T	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1049							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	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)		ACCTCGATGGCGGGGAGCGGC	0.652													T	125434766	C	T	125434766	3	4	165	1	0	0	0	0	1	0	0	0	4510	768	27	1	344	1	DHX37	12	125434766	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4007955	125434766	8417129	908	90061											
SLC15A4	121260	broad.mit.edu	37	chr12	129283815	129283815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttaccaaagtctgtgTgactgctcatccatccgatg	9	12	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:129283815T>C	uc001uhu.2	-	7	1615	c.1562A>G	c.(1561-1563)CAC>CGC	p.H521R	SLC15A4_uc001uhv.2_RNA	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	521					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AAAGTCTGTGTGACTGCTCAT	0.532													C	129283815	T	C	129283815	3	2	165	1	0	0	0	0	1	0	0	0	14401	1696	59	3	179	3	SLC15A4	12	129283815	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3849049	129283815	4568080	909	90062											
TMEM132D	121256	broad.mit.edu	37	chr12	129559044	129559044	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccattgcttctggggaggtcCacctgggctgggaagctggt	16	10	1	0	rs143332531	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:129559044C>A	uc009zyl.1	-	9	3004	c.2676G>T	c.(2674-2676)GTG>GTT	p.V892V	TMEM132D_uc001uia.2_Silent_p.V430V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	892	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		TGGGGAGGTCCACCTGGGCTG	0.532													A	129559044	C	A	129559044	2	1	165	1	0	0	0	0	0	0	0	1	16044	581	21	5		5	TMEM132D	12	129559044	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	275229	129559044	4292851	910	90063											
TMEM132D	121256	broad.mit.edu	37	chr12	130184741	130184741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaggagctccagctcGgccacgcacagccccaggtc	12	17	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:130184741G>A	uc009zyl.1	-	2	910	c.582C>T	c.(580-582)GCC>GCT	p.A194A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	194	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		GCTCCAGCTCGGCCACGCACA	0.701													A	130184741	G	A	130184741	2	1	165	1	0	0	0	0	0	0	0	1	16044	1103	39	1		1	TMEM132D	12	130184741	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	625697	130184741	3667154	911	90064											
FZD10	11211	broad.mit.edu	37	chr12	130647661	130647661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgcccaacctgatgggccaCgagaaccagcgcgaggcagc	13	14	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:130647661C>G	uc001uii.2	+	1	630	c.174C>G	c.(172-174)CAC>CAG	p.H58Q	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	58	FZ.|Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		TGATGGGCCACGAGAACCAGC	0.632													G	130647661	C	G	130647661	3	3	165	1	0	0	0	0	1	0	0	0	6129	535	19	5	176	5	FZD10	12	130647661	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	462920	130647661	3204234	912	90065											
ZNF10	7556	broad.mit.edu	37	chr12	133732657	133732657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggaaaattcttcagCtggcgctctaatcttactag	9	8	4	0	rs11147260		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr12:133732657C>T	uc009zzb.2	+	5	1272	c.825C>T	c.(823-825)AGC>AGT	p.S275S	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.S275S	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	275	C2H2-type 2.			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)|skin(1)	3	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)		AATTCTTCAGCTGGCGCTCTA	0.398													T	133732657	C	T	133732657	2	4	165	1	0	0	0	0	0	0	0	1	17709	796	28	2		2	ZNF10	12	133732657	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3084996	133732657	119238	913	90066											
PARP4	143	broad.mit.edu	37	chr13	25030523	25030523	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaacccacattcttgggaGataggcagcagacaaaccga	9	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:25030523G>A	uc001upl.2	-	21	2624	c.2518C>T	c.(2518-2520)CTC>TTC	p.L840F	PARP4_uc010tdc.1_Missense_Mutation_p.L840F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	840					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			ovary(3)|skin(1)	4		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)		ATTCTTGGGAGATAGGCAGCA	0.423													A	25030523	G	A	25030523	3	1	165	1	0	0	0	0	1	0	0	0	11463	942	33	4	2712	4	PARP4	13	25030523	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		25030523	90139355	914	90067											
ATP12A	479	broad.mit.edu	37	chr13	25262564	25262565	+	Frame_Shift_Ins	INS	-	-	G													agttcctcaagcagatggtgINSggggggttctctatcctcct					rs35191129		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:25262563_25262564T>TG	uc010aaa.3	+	3	668_669	c.335_336T>TG	c.(334-336)gtgfs	p.V112fs	ATP12A_uc001upp.3_Frame_Shift_Ins_p.V112fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(2)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													G	25262565	-	G	25262564	7	5	165	1	0	1	1	0	0	0	0	0	1122	1335	47	0	350	0	ATP12A	13	25262564	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	232041	25262564	89907314	915	90068											
RNF17	56163	broad.mit.edu	37	chr13	25376644	25376644	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctgcaaaaaccaccaccGaataaaataagcagtgatat	6	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:25376644G>A	uc001upr.2	+	14	1925	c.1884G>A	c.(1882-1884)CCG>CCA	p.P628P	RNF17_uc010tdd.1_Silent_p.P487P|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.P628P|RNF17_uc001ups.2_Silent_p.P567P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	628					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		AACCACCACCGAATAAAATAA	0.323													A	25376644	G	A	25376644	2	1	165	1	0	0	0	0	0	0	0	1	13461	1045	37	1		1	RNF17	13	25376644	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	114080	25376644	89793234	916	90069											
PAN3	255967	broad.mit.edu	37	chr13	28841270	28841270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagtgcatggtgttggtcGacatgtggaagaaaattcaa	12	5	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:28841270G>A	uc001urz.2	+	10	1182	c.1174G>A	c.(1174-1176)GAC>AAC	p.D392N	PAN3_uc010tdo.1_Missense_Mutation_p.D538N|PAN3_uc001ury.2_Missense_Mutation_p.D226N|PAN3_uc001urx.2_Missense_Mutation_p.D338N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	538	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	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)		GGTGTTGGTCGACATGTGGAA	0.378													A	28841270	G	A	28841270	3	1	165	1	0	0	0	0	1	0	0	0	11415	1058	37	1	1654	1	PAN3	13	28841270	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3464626	28841270	86328608	917	90070											
FLT1	2321	broad.mit.edu	37	chr13	29001439	29001439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgatgacacggccttttcGtaaatctggggtttcactgg	11	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:29001439G>A	uc001usb.3	-	10	1578	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	FLT1_uc010aar.1_Silent_p.Y431Y|FLT1_uc001usc.3_Silent_p.Y431Y|FLT1_uc010tdp.1_Silent_p.Y431Y	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	431	Ig-like C2-type 5.|Extracellular (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	CGGCCTTTTCGTAAATCTGGG	0.493													A	29001439	G	A	29001439	2	1	165	1	0	0	0	0	0	0	0	1	5941	1140	40	1		1	FLT1	13	29001439	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	160169	29001439	86168439	918	90071											
SLC46A3	283537	broad.mit.edu	37	chr13	29286870	29286870	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatagccattcctgtcAtcgtggtaaaaatcccaatg	8	11	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:29286870A>C	uc001usi.2	-	2	1977	c.1007T>G	c.(1006-1008)ATG>AGG	p.M336R	SLC46A3_uc001usg.2_Missense_Mutation_p.M261R|SLC46A3_uc001usj.2_Missense_Mutation_p.M336R|SLC46A3_uc001ush.2_Missense_Mutation_p.M336R|SLC46A3_uc001usk.2_Missense_Mutation_p.M261R	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	336	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		CATTCCTGTCATCGTGGTAAA	0.373													C	29286870	A	C	29286870	3	2	165	1	0	0	0	0	1	0	0	0	14646	217	8	5	408	5	SLC46A3	13	29286870	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	285431	29286870	85883008	919	90072											
UBL3	5412	broad.mit.edu	37	chr13	30341767	30341767	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcttaccttgagagtttgGctctggtaatgtctctctgg	12	8	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:30341767G>C	uc001usp.2	-	4	1434	c.289C>G	c.(289-291)CCA>GCA	p.P97A		NM_007106	NP_009037	O95164	UBL3_HUMAN	ubiquitin-like 3 precursor	97						intracellular|plasma membrane					0		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TGAGAGTTTGGCTCTGGTAAT	0.398													C	30341767	G	C	30341767	3	2	165	1	0	0	0	0	1	0	0	0	16883	1203	42	5	72	5	UBL3	13	30341767	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1054897	30341767	84828111	920	90073											
USPL1	10208	broad.mit.edu	37	chr13	31211892	31211893	+	Frame_Shift_Ins	INS	-	-	A													tttcttagatggagattgtaINSaaaaacttacctcagaaata							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:31211891_31211892T>TA	uc001utc.2	+	4	1311_1312	c.879_880T>TA	c.(877-882)tgtaaafs	p.C293fs	USPL1_uc001utb.3_Frame_Shift_Ins_p.C112fs|USPL1_uc001utd.2_5'UTR|USPL1_uc001ute.1_5'UTR	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	293					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATGGAGATTGTAAAAAACTTAC	0.356													A	31211893	-	A	31211892	7	5	165	1	0	1	1	0	0	0	0	0	17089	363	13	0	894	0	USPL1	13	31211892	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	870125	31211892	83957986	921	90074											
FRY	10129	broad.mit.edu	37	chr13	32753081	32753081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttttggagttgcaaaaCccagtattatgagcccagga	10	7	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32753081C>T	uc001utx.2	+	22	3278	c.2782C>T	c.(2782-2784)CCC>TCC	p.P928S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		AGTTGCAAAACCCAGTATTAT	0.443													T	32753081	C	T	32753081	3	4	165	1	0	0	0	0	1	0	0	0	6063	507	18	4	2868	4	FRY	13	32753081	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1541189	32753081	82416797	922	90075											
FRY	10129	broad.mit.edu	37	chr13	32821607	32821607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaggaattacctgggAaaaccctggacttccacttc	7	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32821607A>G	uc001utx.2	+	48	7472	c.6976A>G	c.(6976-6978)AAA>GAA	p.K2326E	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		ATTACCTGGGAAAACCCTGGA	0.408													G	32821607	A	G	32821607	3	3	165	1	0	0	0	0	1	0	0	0	6063	247	9	3	7166	3	FRY	13	32821607	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	68526	32821607	82348271	923	90076											
FRY	10129	broad.mit.edu	37	chr13	32850638	32850638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggacaagctcaagttcaGtgtgttagaactgcaagaat	10	7	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32850638G>A	uc001utx.2	+	57	8820	c.8324G>A	c.(8323-8325)AGT>AAT	p.S2775N	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.S330N|FRY_uc001utz.2_Missense_Mutation_p.S300N|FRY_uc010tdx.1_Missense_Mutation_p.S145N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		CTCAAGTTCAGTGTGTTAGAA	0.388													A	32850638	G	A	32850638	3	1	165	1	0	0	0	0	1	0	0	0	6063	1029	36	4	8550	4	FRY	13	32850638	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	29031	32850638	82319240	924	90077											
BRCA2	675	broad.mit.edu	37	chr13	32929044	32929044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatccaaattttaccgcaCctggtcaagaatttctgtct	6	10	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:32929044C>T	uc001uub.1	+	14	7281	c.7054C>T	c.(7054-7056)CCT>TCT	p.P2352S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2352	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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		TTTTACCGCACCTGGTCAAGA	0.328			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			T	32929044	C	T	32929044	3	4	165	1	0	0	0	0	1	0	0	0	1499	507	18	4	7104	4	BRCA2	13	32929044	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	78406	32929044	82240834	925	90078											
NBEA	26960	broad.mit.edu	37	chr13	35517239	35517239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagggacatcgtggagacGgtgctcaacctggtaaggaa	14	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:35517239G>A	uc001uvb.2	+	2	488	c.282G>A	c.(280-282)ACG>ACA	p.T94T		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	94						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TCGTGGAGACGGTGCTCAACC	0.572													A	35517239	G	A	35517239	2	1	165	1	0	0	0	0	0	0	0	1	10187	1103	39	1		1	NBEA	13	35517239	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2588195	35517239	79652639	926	90079											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-													acctcccctgcaggatttacAaaaaaaatctgtactccatt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					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)		GCAGGATTTACAAAAAAAATC	0.438													-	36909272	A	-	36909272	7	5	165	1	0	1	0	1	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	1392033	36909272	78260606	927	90080											
FREM2	341640	broad.mit.edu	37	chr13	39424294	39424294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtgagatgctacaccCggcaggggtctgcacaggtg	14	11	2	1	rs114837786	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:39424294C>T	uc001uwv.2	+	9	6808	c.6499C>T	c.(6499-6501)CGG>TGG	p.R2167W	FREM2_uc001uww.2_Missense_Mutation_p.R253W	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2167	Extracellular (Potential).|Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		ATGCTACACCCGGCAGGGGTC	0.463													T	39424294	C	T	39424294	3	4	165	1	0	0	0	0	1	0	0	0	6045	643	23	1	6533	1	FREM2	13	39424294	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2515022	39424294	75745584	928	90081											
MRPS31	10240	broad.mit.edu	37	chr13	41323298	41323298	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcattgttaattgggaactCccatagtttcccctcttttg	6	10	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:41323298C>A	uc001uxm.3	-	6	1009	c.934G>T	c.(934-936)GAG>TAG	p.E312*		NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	312						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ATTGGGAACTCCCATAGTTTC	0.373													A	41323298	C	A	41323298	4	1	165	1	0	0	0	0	0	1	0	0	9841	864	30	5	261	5	MRPS31	13	41323298	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1899004	41323298	73846580	929	90082											
KIAA0564	23078	broad.mit.edu	37	chr13	42273343	42273343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagccacttttcccagtcAtattcataaagtacagggaa	7	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:42273343A>G	uc001uyj.2	-	29	3498	c.3428T>C	c.(3427-3429)ATG>ACG	p.M1143T		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1143						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTTCCCAGTCATATTCATAAA	0.423													G	42273343	A	G	42273343	3	3	165	1	0	0	0	0	1	0	0	0	8185	217	8	3	2357	3	KIAA0564	13	42273343	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	950045	42273343	72896535	930	90083											
EPSTI1	94240	broad.mit.edu	37	chr13	43543269	43543269	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaccggtttagctctgtTctgctccttccacttctcca	7	14	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:43543269T>A	uc001uyw.1	-	3	368	c.292A>T	c.(292-294)AAC>TAC	p.N98Y	EPSTI1_uc001uyx.1_Missense_Mutation_p.N98Y	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	98	Potential.									ovary(1)	1		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)		TTAGCTCTGTTCTGCTCCTTC	0.532													A	43543269	T	A	43543269	3	1	165	1	0	0	0	0	1	0	0	0	5198	1783	62	5	984	5	EPSTI1	13	43543269	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1269926	43543269	71626609	931	90084											
ENOX1	55068	broad.mit.edu	37	chr13	43900600	43900600	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttcttgcgctgggctttCgagaaatggtcccaagcttt	11	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:43900600C>T	uc001uza.3	-	10	1398	c.1098G>A	c.(1096-1098)TCG>TCA	p.S366S	ENOX1_uc001uzb.3_Silent_p.S366S|ENOX1_uc001uzc.3_Silent_p.S366S|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Silent_p.S179S	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	366					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		GCTGGGCTTTCGAGAAATGGT	0.418													T	43900600	C	T	43900600	2	4	165	1	0	0	0	0	0	0	0	1	5126	871	31	1		1	ENOX1	13	43900600	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	357331	43900600	71269278	932	90085											
SIAH3	283514	broad.mit.edu	37	chr13	46425655	46425655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtgtgtggggttgacgAcacagacaagttgcccggca	16	8	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:46425655A>G	uc001vap.2	-	1	192	c.110T>C	c.(109-111)GTC>GCC	p.V37A		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	37					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						GGGGTTGACGACACAGACAAG	0.532													G	46425655	A	G	46425655	3	3	165	1	0	0	0	0	1	0	0	0	14301	275	10	3	707	3	SIAH3	13	46425655	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2525055	46425655	68744223	933	90086											
C13orf18	80183	broad.mit.edu	37	chr13	46937325	46937325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgtgtttcagtcactgGgctgacctgtaacacagcac	10	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:46937325G>A	uc010acl.2	-	6	1455	c.850C>T	c.(850-852)CCA>TCA	p.P284S	C13orf18_uc001vbf.3_Missense_Mutation_p.P217S|C13orf18_uc001vbg.3_Missense_Mutation_p.P12S|C13orf18_uc010tfz.1_Missense_Mutation_p.P127S|C13orf18_uc010acm.2_Missense_Mutation_p.P149S|C13orf18_uc010acn.2_Missense_Mutation_p.P69S|C13orf18_uc001vbe.3_Missense_Mutation_p.P284S|C13orf18_uc001vbh.3_Missense_Mutation_p.P284S|C13orf18_uc001vbi.3_Missense_Mutation_p.P127S|C13orf18_uc010aco.1_Missense_Mutation_p.P284S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	284											0		Lung NSC(96;2.31e-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;2.19e-05)		TCAGTCACTGGGCTGACCTGT	0.373													A	46937325	G	A	46937325	3	1	165	1	0	0	0	0	1	0	0	0	1720	1232	43	4	1178	4	C13orf18	13	46937325	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	511670	46937325	68232553	934	90087											
HTR2A	3356	broad.mit.edu	37	chr13	47409099	47409100	+	Frame_Shift_Ins	INS	-	-	T													ggcatcttgctttgaattctINSttttttgtcccatttgaagt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:47409098_47409099C>CT	uc010acr.3	-	3	1978_1979	c.1289_1290G>AG	c.(1288-1290)aagfs	p.K430fs	HTR2A_uc001vbr.3_Frame_Shift_Ins_p.K346fs	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	430					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTTTGAATTCTTTTTTTGTCC	0.401													T	47409100	-	T	47409099	7	5	165	1	0	1	1	0	0	0	0	0	7441	1609	56	0	130	0	HTR2A	13	47409099	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	471774	47409099	67760779	935	90088											
SETDB2	83852	broad.mit.edu	37	chr13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-													tgtggggttaataaatgtagAaaaaaaatattataaatatg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:50065969_50065969GA>G	uc001vcz.3	+	14	3050	c.2144_2144GA>G	c.(2143-2145)agafs	p.R715fs	SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	715					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)		AATAAATGTAGAAAAAAAATA	0.373													-	50065970	A	-	50065970	7	5	165	1	0	1	0	1	0	0	0	0	14139	243	9	0	2199	0	SETDB2	13	50065970	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	2656871	50065970	65103908	936	90089											
ATP7B	540	broad.mit.edu	37	chr13	52532477	52532477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccagccaccggcccagGgcaatgaacacaaagagcat	10	13	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:52532477G>A	uc001vfw.2	-	8	2482	c.2325C>T	c.(2323-2325)GCC>GCT	p.A775A	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Silent_p.A664A|ATP7B_uc010tgt.1_Silent_p.A775A|ATP7B_uc010tgu.1_Silent_p.A727A|ATP7B_uc010tgv.1_Intron|ATP7B_uc001vfv.2_Silent_p.A47A|ATP7B_uc010tgs.1_Silent_p.A47A|ATP7B_uc010tgw.1_3'UTR	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	775	Helical; (Potential).				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		ACCGGCCCAGGGCAATGAACA	0.522									Wilson_disease				A	52532477	G	A	52532477	2	1	165	1	0	0	0	0	0	0	0	1	1191	1219	43	4		4	ATP7B	13	52532477	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2466507	52532477	62637401	937	90090											
THSD1	55901	broad.mit.edu	37	chr13	52971858	52971858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgaatttcttcttgccTcaggaagactgttggtgaag	11	7	4	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:52971858T>C	uc001vgo.2	-	3	1075	c.530A>G	c.(529-531)GAG>GGG	p.E177G	THSD1_uc001vgp.2_Missense_Mutation_p.E177G|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	177	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		TCTTCTTGCCTCAGGAAGACT	0.502													C	52971858	T	C	52971858	3	2	165	1	0	0	0	0	1	0	0	0	15874	1551	54	3	2040	3	THSD1	13	52971858	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	439381	52971858	62198020	938	90091											
VPS36	51028	broad.mit.edu	37	chr13	52989994	52989994	+	Frame_Shift_Del	DEL	A	A	-													tgtcataaataaatttgggtAaaaacgcaggccttccactg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:52989993_52989993TA>T	uc001vgs.3	-	13	1167	c.1133_1133TA>A	c.(1132-1134)tacfs	p.Y378fs	VPS36_uc001vgq.3_Frame_Shift_Del_p.Y320fs	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	378					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		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;3.14e-08)		TAAATTTGGGTAAAAACGCAG	0.393													-	52989994	A	-	52989994	7	5	165	1	0	1	0	1	0	0	0	0	17201	362	13	0	32	0	VPS36	13	52989994	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	18136	52989994	62179884	939	90092											
PCDH8	5100	broad.mit.edu	37	chr13	53418924	53418924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgcgcagaggatccCgaggcagtgacgtgctctta	13	12	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:53418924C>T	uc001vhi.2	-	3	3187	c.2984G>A	c.(2983-2985)CGG>CAG	p.R995Q	PCDH8_uc001vhj.2_Missense_Mutation_p.R898Q	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	995	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		CAGAGGATCCCGAGGCAGTGA	0.597													T	53418924	C	T	53418924	3	4	165	1	0	0	0	0	1	0	0	0	11517	652	23	1	232	1	PCDH8	13	53418924	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	428930	53418924	61750954	940	90093											
PCDH17	27253	broad.mit.edu	37	chr13	58206890	58206890	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccgggtgctggagaactcCgcaccgcacctgctggacgt	13	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:58206890C>A	uc001vhq.1	+	1	1102	c.210C>A	c.(208-210)TCC>TCA	p.S70S	PCDH17_uc010aec.1_Silent_p.S70S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	70	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGAGAACTCCGCACCGCACC	0.682													A	58206890	C	A	58206890	2	1	165	1	0	0	0	0	0	0	0	1	11512	639	23	5		5	PCDH17	13	58206890	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4787966	58206890	56962988	941	90094											
PCDH17	27253	broad.mit.edu	37	chr13	58208123	58208123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctacgtgcttcaggtGcacgagaacaacatcccggg	13	12	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:58208123G>A	uc001vhq.1	+	1	2335	c.1443G>A	c.(1441-1443)GTG>GTA	p.V481V	PCDH17_uc010aec.1_Silent_p.V481V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	481	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCTTCAGGTGCACGAGAACA	0.597													A	58208123	G	A	58208123	2	1	165	1	0	0	0	0	0	0	0	1	11512	1306	46	2		2	PCDH17	13	58208123	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1233	58208123	56961755	942	90095											
DIAPH3	81624	broad.mit.edu	37	chr13	60565331	60565331	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagcaaaagatgctgaAgaatagaaataaaatatccc	7	6	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:60565331A>C	uc001vht.2	-	12	1541	c.1322T>G	c.(1321-1323)CTT>CGT	p.L441R	DIAPH3_uc001vhu.2_Missense_Mutation_p.L178R|DIAPH3_uc001vhv.2_Missense_Mutation_p.L19R	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	441	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAGATGCTGAAGAATAGAAAT	0.294													C	60565331	A	C	60565331	3	2	165	1	0	0	0	0	1	0	0	0	4520	72	3	5	2347	5	DIAPH3	13	60565331	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2357208	60565331	54604547	943	90096											
DACH1	1602	broad.mit.edu	37	chr13	72134083	72134083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggggctatcaggaacaCgctcctgcaccagcaagaga	13	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:72134083C>T	uc010thn.1	-	6	1727	c.1304G>A	c.(1303-1305)CGT>CAT	p.R435H	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	487					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATCAGGAACACGCTCCTGCAC	0.498													T	72134083	C	T	72134083	3	4	165	1	0	0	0	0	1	0	0	0	4220	536	19	1	844	1	DACH1	13	72134083	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	11568752	72134083	43035795	944	90097											
SLITRK1	114798	broad.mit.edu	37	chr13	84454827	84454827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttgggcagggggcgcCgggagactagaatccactcg	15	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:84454827C>T	uc001vlk.2	-	1	1702	c.816G>A	c.(814-816)CCG>CCA	p.P272P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	272	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGGGGGCGCCGGGAGACTAG	0.552													T	84454827	C	T	84454827	2	4	165	1	0	0	0	0	0	0	0	1	14742	639	23	1		1	SLITRK1	13	84454827	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	12320744	84454827	30715051	945	90098											
SLITRK5	26050	broad.mit.edu	37	chr13	88327712	88327712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgcatagctggatgctGcagactctagcgtttgctgt	11	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:88327712G>A	uc001vln.2	+	2	288	c.69G>A	c.(67-69)CTG>CTA	p.L23L	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	23						integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCTGGATGCTGCAGACTCTAG	0.458													A	88327712	G	A	88327712	2	1	165	1	0	0	0	0	0	0	0	1	14746	1306	46	2		2	SLITRK5	13	88327712	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3872885	88327712	26842166	946	90099											
TGDS	23483	broad.mit.edu	37	chr13	95244550	95244550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaagattcttcaagcttGcacagtaatccagcttgaaa	6	9	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:95244550G>A	uc001vlw.2	-	3	288	c.167C>T	c.(166-168)GCA>GTA	p.A56V	TGDS_uc001vlx.2_RNA	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	56					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CTTCAAGCTTGCACAGTAATC	0.353													A	95244550	G	A	95244550	3	1	165	1	0	0	0	0	1	0	0	0	15811	1319	46	2	925	2	TGDS	13	95244550	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	6916838	95244550	19925328	947	90100											
ABCC4	10257	broad.mit.edu	37	chr13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-													tcacatctcttgacgtttccAaaaaatatcgccgaagaaaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:95735431_95735431CA>C	uc001vmd.4	-	20	2768	c.2649_2649TG>G	c.(2647-2649)ttgfs	p.L883fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	883	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)	TTGACGTTTCCAAAAAATATC	0.438													-	95735432	A	-	95735432	7	5	165	1	0	1	0	1	0	0	0	0	55	131	5	0	1373	0	ABCC4	13	95735432	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	490882	95735432	19434446	948	90101											
CLDN10	9071	broad.mit.edu	37	chr13	96086251	96086251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaactgcgcaggtaacgCgttgggttctttccattgcc	12	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:96086251C>T	uc001vmg.2	+	1	399	c.164C>T	c.(163-165)GCG>GTG	p.A55V	CLDN10_uc010tii.1_Intron	NM_182848	NP_878268	P78369	CLD10_HUMAN	claudin 10 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCAGGTAACGCGTTGGGTTCT	0.493													T	96086251	C	T	96086251	3	4	165	1	0	0	0	0	1	0	0	0	3472	768	27	1	166	1	CLDN10	13	96086251	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	350819	96086251	19083627	949	90102											
CLDN10	9071	broad.mit.edu	37	chr13	96205116	96205116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgtctaccatcgacGgcacggtcatcacaaccgcc	11	14	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:96205116G>A	uc001vmh.2	+	1	170	c.109G>A	c.(109-111)GGC>AGC	p.G37S	CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	37	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TACCATCGACGGCACGGTCAT	0.602													A	96205116	G	A	96205116	3	1	165	1	0	0	0	0	1	0	0	0	3472	1116	39	1	329	1	CLDN10	13	96205116	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	118865	96205116	18964762	950	90103											
RNF113B	140432	broad.mit.edu	37	chr13	98829457	98829457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatacctggtctgcttggtCggccgtccttcctggagaag	13	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:98829457C>T	uc001vnk.2	-	1	65	c.34G>A	c.(34-36)GAC>AAC	p.D12N	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	12							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTGCTTGGTCGGCCGTCCTT	0.542													T	98829457	C	T	98829457	3	4	165	1	0	0	0	0	1	0	0	0	13428	884	31	1	942	1	RNF113B	13	98829457	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2624341	98829457	16340421	951	90104											
STK24	8428	broad.mit.edu	37	chr13	99109475	99109475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggagatgccagggcaCgcctcctccgctaggtagat	14	12	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:99109475C>T	uc001vnm.1	-	10	1477	c.1242G>A	c.(1240-1242)GCG>GCA	p.A414A	STK24_uc001vnn.1_Silent_p.A402A|STK24_uc010tim.1_Silent_p.A383A	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	414					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.A414V(1)		ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCCAGGGCACGCCTCCTCCG	0.622													T	99109475	C	T	99109475	2	4	165	1	0	0	0	0	0	0	0	1	15292	523	19	1		1	STK24	13	99109475	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	280018	99109475	16060403	952	90105											
SLC15A1	6564	broad.mit.edu	37	chr13	99354751	99354751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgattccattttccccTttttctggcttctggttaag	6	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:99354751T>C	uc001vno.2	-	18	1526	c.1449A>G	c.(1447-1449)AAA>AAG	p.K483K		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	483	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATTTTCCCCTTTTTCTGGCT	0.254													C	99354751	T	C	99354751	2	2	165	1	0	0	0	0	0	0	0	1	14398	1606	56	3		3	SLC15A1	13	99354751	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	245276	99354751	15815127	953	90106											
NALCN	259232	broad.mit.edu	37	chr13	101759837	101759837	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaatgaagtgtacttaCgcgttgaagcgtgctcggac	13	8	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:101759837C>T	uc001vox.1	-	22	2768	c.2579_splice	c.e22+1	p.A860_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTGTACTTACGCGTTGAAGC	0.502													T	101759837	C	T	101759837	5	4	165	1	0	0	0	0	0	0	1	0	10148	550	19	1	2728	1	NALCN	13	101759837	Splice_Site	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2405086	101759837	13410041	954	90107											
KDELC1	79070	broad.mit.edu	37	chr13	103449310	103449310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctagtgaattgctcctctgGtgctgagactttcacctgga	10	10	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:103449310G>T	uc001vpq.3	-	2	616	c.232C>A	c.(232-234)CCA>ACA	p.P78T	KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	78	Filamin.					endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCTCCTCTGGTGCTGAGACT	0.418													T	103449310	G	T	103449310	3	4	165	1	0	0	0	0	1	0	0	0	8117	1261	44	5	1312	5	KDELC1	13	103449310	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1689473	103449310	11720568	955	90108											
MYO16	23026	broad.mit.edu	37	chr13	109779715	109779715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcctgggccagtgcctcGttggcccgtccatctggtct	13	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:109779715G>A	uc001vqt.1	+	31	3928	c.3802G>A	c.(3802-3804)GTT>ATT	p.V1268I	MYO16_uc010agk.1_Missense_Mutation_p.V1290I|MYO16_uc010tjh.1_Missense_Mutation_p.V780I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1268					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			CCAGTGCCTCGTTGGCCCGTC	0.617													A	109779715	G	A	109779715	3	1	165	1	0	0	0	0	1	0	0	0	10064	1145	40	1	3920	1	MYO16	13	109779715	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	6330405	109779715	5390163	956	90109											
MYO16	23026	broad.mit.edu	37	chr13	109792726	109792726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctcctacgaggagatatCggggtcccggcccggggacg	17	13	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr13:109792726C>T	uc001vqt.1	+	32	4226	c.4100C>T	c.(4099-4101)TCG>TTG	p.S1367L	MYO16_uc010agk.1_Missense_Mutation_p.S1389L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1367					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			GAGGAGATATCGGGGTcccgg	0.527													T	109792726	C	T	109792726	3	4	165	1	0	0	0	0	1	0	0	0	10064	893	31	1	4222	1	MYO16	13	109792726	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	13011	109792726	5377152	957	90110											
OR4Q3	441669	broad.mit.edu	37	chr14	20216007	20216007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagtcatgaacccccagCtatgcctttggttggttctt	8	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:20216007C>T	uc010tkt.1	+	1	421	c.421C>T	c.(421-423)CTA>TTA	p.L141L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACCCCCAGCTATGCCTTTG	0.498													T	20216007	C	T	20216007	2	4	165	1	0	0	0	0	0	0	0	1	11081	796	28	2		2	OR4Q3	14	20216007	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08		20216007	87133533	958	90111											
OR4K1	79544	broad.mit.edu	37	chr14	20403904	20403904	+	Frame_Shift_Del	DEL	T	T	-													cctggggacttcaacttttcTtttttgccatcttctctata							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:20403903_20403903CT>C	uc001vwj.2	+	0	137	c.78_78CT>C	c.(76-78)ttcfs	p.F26fs		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		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)		TTCAACTTTTCTTTTTTGCCA	0.368													-	20403904	T	-	20403904	7	5	165	1	0	1	0	1	0	0	0	0	11067	1609	56	0	81	0	OR4K1	14	20403904	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	187897	20403904	86945636	959	90112											
RNASE6	6039	broad.mit.edu	37	chr14	21250106	21250106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgatttgctcagcaTtgtctgcaaaaatcgtcggc	10	9	3	1	rs139946247		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:21250106T>G	uc001vye.3	+	2	541	c.248T>G	c.(247-249)ATT>AGT	p.I83S		NM_005615	NP_005606	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6 precursor	83					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TTGCTCAGCATTGTCTGCAAA	0.468													G	21250106	T	G	21250106	3	3	165	1	0	0	0	0	1	0	0	0	13407	1493	52	5	250	5	RNASE6	14	21250106	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	846202	21250106	86099434	960	90113											
ZNF219	51222	broad.mit.edu	37	chr14	21559656	21559656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccttgccggtggcgcccCggcccccttcaggccgggtc	13	18	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:21559656C>T	uc001vzr.2	-	4	1899	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	ZNF219_uc001vzs.2_Missense_Mutation_p.R493Q|ZNF219_uc010aik.1_Missense_Mutation_p.R493Q	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	493					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			central_nervous_system(1)	1	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)		GGTGGCGCCCCGGCCCCCTTC	0.602													T	21559656	C	T	21559656	3	4	165	1	0	0	0	0	1	0	0	0	17770	652	23	1	698	1	ZNF219	14	21559656	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	309550	21559656	85789884	961	90114											
CHD8	57680	broad.mit.edu	37	chr14	21860061	21860061	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatctcccattactccattCgccatcaacttgtgcttctg	4	16	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:21860061C>T	uc001was.1	-	35	6073	c.5979G>A	c.(5977-5979)GCG>GCA	p.A1993A	CHD8_uc001war.1_Silent_p.A1889A	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2272					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTACTCCATTCGCCATCAACT	0.428													T	21860061	C	T	21860061	2	4	165	1	0	0	0	0	0	0	0	1	3331	871	31	1		1	CHD8	14	21860061	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	300405	21860061	85489479	962	90115											
RNF31	55072	broad.mit.edu	37	chr14	24620009	24620009	+	Frame_Shift_Del	DEL	C	C	-													gcccccacgacgccttagtgCccccctgcccagttcctgtg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:24620008_24620008GC>G	uc001wmn.1	+	7	1648	c.1399_1399GC>G	c.(1399-1401)gccfs	p.A467fs	RNF31_uc001wml.1_Frame_Shift_Del_p.A316fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Del_p.A282fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	467	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACGCCTTAGTGCCCCCCTGCC	0.622													-	24620009	C	-	24620009	7	5	165	1	0	1	0	1	0	0	0	0	13487	739	26	0	1430	0	RNF31	14	24620009	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	2759948	24620009	82729531	963	90116											
RABGGTA	5875	broad.mit.edu	37	chr14	24737768	24737768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcctgctgtccaaatgaCgcgaaatgtatgttggggca	12	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:24737768C>T	uc001wof.2	-	9	1380	c.958G>A	c.(958-960)GTC>ATC	p.V320I	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.V320I|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	320					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		GTCCAAATGACGCGAAATGTA	0.542													T	24737768	C	T	24737768	3	4	165	1	0	0	0	0	1	0	0	0	12967	536	19	1	777	1	RABGGTA	14	24737768	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	117759	24737768	82611772	964	90117											
LTB4R	1241	broad.mit.edu	37	chr14	24784882	24784882	+	Frame_Shift_Del	DEL	C	C	-													acactacatcttctgcagcaCccccctcactaggtgtagag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:24784881_24784881AC>A	uc001wou.3	+	1	356	c.24_24AC>A	c.(22-24)gcafs	p.A8fs	LTB4R_uc001wos.3_Frame_Shift_Del_p.A8fs|LTB4R_uc010alp.3_Frame_Shift_Del_p.A8fs|LTB4R_uc021rrq.1_Frame_Shift_Del_p.A8fs	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	8					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)		CTTCTGCAGCACCCCCCTCAC	0.587													-	24784882	C	-	24784882	7	5	165	1	0	1	0	1	0	0	0	0	9071	507	18	0	27	0	LTB4R	14	24784882	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	47114	24784882	82564658	965	90118											
ARHGAP5	394	broad.mit.edu	37	chr14	32562687	32562687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttactctgttttttagtgatGttctagagaaaaaaaatatg	7	3	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:32562687G>T	uc001wrl.2	+	2	3051	c.2812G>T	c.(2812-2814)GTT>TTT	p.V938F	ARHGAP5_uc001wrm.2_Missense_Mutation_p.V938F|ARHGAP5_uc001wrn.2_Missense_Mutation_p.V938F|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	938					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		TTTTAGTGATGTTCTAGAGAA	0.338													T	32562687	G	T	32562687	3	4	165	1	0	0	0	0	1	0	0	0	886	1377	48	5	2814	5	ARHGAP5	14	32562687	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	7777805	32562687	74786853	966	90119											
BAZ1A	11177	broad.mit.edu	37	chr14	35222777	35222777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacattactgggtgtgacGtggagtccaagcttttgagc	12	9	0	2	rs114946696	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:35222777G>A	uc001wsk.2	-	27	5176	c.4608C>T	c.(4606-4608)CAC>CAT	p.H1536H	BAZ1A_uc001wsl.2_Silent_p.H1504H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1536					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		TGGGTGTGACGTGGAGTCCAA	0.423													A	35222777	G	A	35222777	2	1	165	1	0	0	0	0	0	0	0	1	1329	1136	40	1		1	BAZ1A	14	35222777	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2660090	35222777	72126763	967	90120											
MIA2	117153	broad.mit.edu	37	chr14	39716693	39716693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcacattcccaaacctcaAtccactggttggtttggtgg	10	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:39716693A>G	uc001wux.2	+	4	1109	c.915A>G	c.(913-915)CAA>CAG	p.Q305Q	MIA2_uc010amy.1_Silent_p.Q236Q	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	305						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CCAAACCTCAATCCACTGGTT	0.413													G	39716693	A	G	39716693	2	3	165	1	0	0	0	0	0	0	0	1	9564	98	4	3		3	MIA2	14	39716693	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4493916	39716693	67632847	968	90121											
POLE2	5427	broad.mit.edu	37	chr14	50121545	50121545	+	Frame_Shift_Del	DEL	T	T	-													acatattatatctgccaaagTttttagggaatctaaaattt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:50121544_50121544GT>G	uc001wwu.3	-	12	1208	c.1031_1031AC>C	c.(1030-1032)actfs	p.T344fs	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Frame_Shift_Del_p.T59fs|POLE2_uc021rsr.1_Frame_Shift_Del_p.T318fs|POLE2_uc010ano.3_Frame_Shift_Del_p.T344fs	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	344					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|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATCTGCCAAAGTTTTTAGGGA	0.234													-	50121545	T	-	50121545	7	5	165	1	0	1	0	1	0	0	0	0	12197	1725	60	0	581	0	POLE2	14	50121545	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	10404852	50121545	57227995	969	90122											
SOS2	6655	broad.mit.edu	37	chr14	50585067	50585068	+	Frame_Shift_Ins	INS	-	-	G													acatatggctaaggtcattgINSgggagtttctgcattttcta							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:50585066_50585067T>TG	uc001wxs.4	-	22	4092_4093	c.3994_3995A>CA	c.(3994-3996)caafs	p.Q1332fs	SOS2_uc010ans.3_Frame_Shift_Ins_p.Q167fs|SOS2_uc010tql.2_Frame_Shift_Ins_p.Q1299fs|METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_5'Flank|METTL21D_uc001wxq.1_5'Flank|METTL21D_uc001wxo.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	1332					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|Rho guanyl-nucleotide exchange factor activity|protein binding			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)					CTAAGGTCATTGGGGAGTTTCT	0.376													G	50585068	-	G	50585067	7	5	165	1	0	1	1	0	0	0	0	0	14937	1357	47	0	8	0	SOS2	14	50585067	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	463522	50585067	56764473	970	90123											
CDKL1	8814	broad.mit.edu	37	chr14	50824783	50824783	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaagggaccccctcCtccttttttctttttcttgg	7	13	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:50824783C>A	uc010anu.1	-	15	2185	c.2185G>T	c.(2185-2187)GGA>TGA	p.G729*	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGACCCCCTCCTCCTTTTTTC	0.532													A	50824783	C	A	50824783	4	1	165	1	0	0	0	0	0	1	0	0	3153	696	24	5		5	CDKL1	14	50824783	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	239716	50824783	56524757	971	90124											
PTGDR	5729	broad.mit.edu	37	chr14	52734770	52734770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcaagtgcctcctaAgcccggtggtgctggctgcc	15	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:52734770A>G	uc001wzq.2	+	1	340	c.238A>G	c.(238-240)AGC>GGC	p.S80G		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	80	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GTGCCTCCTAAGCCCGGTGGT	0.647													G	52734770	A	G	52734770	3	3	165	1	0	0	0	0	1	0	0	0	12741	72	3	3	240	3	PTGDR	14	52734770	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1909987	52734770	54614770	972	90125											
FERMT2	10979	broad.mit.edu	37	chr14	53386022	53386022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgtcttcagaagccaAgttctcttcttttcccacca	5	13	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:53386022A>G	uc001xad.2	-	3	265	c.210T>C	c.(208-210)ACT>ACC	p.T70T	FERMT2_uc001xac.2_Silent_p.T70T|FERMT2_uc001xae.2_Silent_p.T70T|FERMT2_uc001xaf.2_Silent_p.T70T	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	70					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					TCAGAAGCCAAGTTCTCTTCT	0.408													G	53386022	A	G	53386022	2	3	165	1	0	0	0	0	0	0	0	1	5818	59	3	3		3	FERMT2	14	53386022	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	651252	53386022	53963518	973	90126											
CGRRF1	10668	broad.mit.edu	37	chr14	54996827	54996827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttacatgctactgggggtGcagtgttcaaaaattatatg	10	7	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:54996827G>T	uc001xay.2	+	3	396	c.305G>T	c.(304-306)TGC>TTC	p.C102F	CGRRF1_uc010tra.1_Missense_Mutation_p.C102F|CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	102					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						TACTGGGGGTGCAGTGTTCAA	0.388													T	54996827	G	T	54996827	3	4	165	1	0	0	0	0	1	0	0	0	3306	1319	46	5	315	5	CGRRF1	14	54996827	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1610805	54996827	52352713	974	90127											
SOCS4	122809	broad.mit.edu	37	chr14	55510009	55510009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttagatcattcctgtgggCatcgatttttaggccgatct	9	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:55510009C>T	uc001xbo.2	+	3	815	c.250C>T	c.(250-252)CAT>TAT	p.H84Y	SOCS4_uc001xbp.2_Missense_Mutation_p.H84Y	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	84					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						TTCCTGTGGGCATCGATTTTT	0.443													T	55510009	C	T	55510009	3	4	165	1	0	0	0	0	1	0	0	0	14916	710	25	2	252	2	SOCS4	14	55510009	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	513182	55510009	51839531	975	90128											
GPR135	64582	broad.mit.edu	37	chr14	59930738	59930738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctagtccggtagccctcctCgcggttgcgccctaggagca	12	16	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:59930738C>T	uc010apj.2	-	1	1322	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	403	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TAGCCCTCCTCGCGGTTGCGC	0.627													T	59930738	C	T	59930738	3	4	165	1	0	0	0	0	1	0	0	0	6644	893	31	1	281	1	GPR135	14	59930738	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4420729	59930738	47418802	976	90129											
C14orf135	64430	broad.mit.edu	37	chr14	60582161	60582161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagattggtattgtcagaCggattttgctaactttaggt	11	4	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:60582161C>T	uc001xer.3	+	3	1159	c.637C>T	c.(637-639)CGG>TGG	p.R213W	C14orf135_uc001xeq.2_Missense_Mutation_p.R213W|C14orf135_uc010apm.2_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	447						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TATTGTCAGACGGATTTTGCT	0.348													T	60582161	C	T	60582161	3	4	165	1	0	0	0	0	1	0	0	0	1745	527	19	1	643	1	C14orf135	14	60582161	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	651423	60582161	46767379	977	90130											
KCNH5	27133	broad.mit.edu	37	chr14	63269270	63269270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgaacacagatatcagcTctcatgtccttgggacagat	9	9	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:63269270T>C	uc001xfx.2	-	9	1650	c.1599A>G	c.(1597-1599)AGA>AGG	p.R533R	KCNH5_uc001xfy.2_Silent_p.R533R|KCNH5_uc001xfz.1_Silent_p.R475R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	533	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGATATCAGCTCTCATGTCCT	0.448													C	63269270	T	C	63269270	2	2	165	1	0	0	0	0	0	0	0	1	8035	1548	54	3		3	KCNH5	14	63269270	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2687109	63269270	44080270	978	90131											
SYNE2	23224	broad.mit.edu	37	chr14	64681174	64681174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaggagggcccatactAcagcgcactgtcaggtaaca	13	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:64681174A>G	uc001xgm.2	+	106	19549	c.19319A>G	c.(19318-19320)TAC>TGC	p.Y6440C	SYNE2_uc001xgl.2_Missense_Mutation_p.Y6440C|SYNE2_uc010apy.2_Missense_Mutation_p.Y2825C|SYNE2_uc001xgn.2_Missense_Mutation_p.Y1402C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Y410C|SYNE2_uc001xgq.2_Missense_Mutation_p.Y805C|SYNE2_uc001xgr.2_Missense_Mutation_p.Y223C|SYNE2_uc010tsi.1_Missense_Mutation_p.Y74C|SYNE2_uc001xgs.2_Missense_Mutation_p.Y74C|SYNE2_uc001xgt.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6440	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCCCATACTACAGCGCACTG	0.602													G	64681174	A	G	64681174	3	3	165	1	0	0	0	0	1	0	0	0	15443	391	14	3	19737	3	SYNE2	14	64681174	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1411904	64681174	42668366	979	90132											
ESR2	2100	broad.mit.edu	37	chr14	64724058	64724058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccaagagccgcacttggTcgaacaggctgagctccaca	10	14	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:64724058T>C	uc001xha.1	-	6	1445	c.977A>G	c.(976-978)GAC>GGC	p.D326G	ESR2_uc001xgu.2_Missense_Mutation_p.D326G|ESR2_uc001xgv.2_Missense_Mutation_p.D326G|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.D326G|ESR2_uc001xgy.1_Missense_Mutation_p.D326G|ESR2_uc001xgz.1_Missense_Mutation_p.D326G|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	326	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACTTGGTCGAACAGGCT	0.572													C	64724058	T	C	64724058	3	2	165	1	0	0	0	0	1	0	0	0	5257	1667	58	3	717	3	ESR2	14	64724058	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	42884	64724058	42625482	980	90133											
SPTB	6710	broad.mit.edu	37	chr14	65234410	65234410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccagggcagcaaagcGctctgcccagctggccgtgg	13	15	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:65234410G>A	uc001xht.2	-	29	6244	c.6190C>T	c.(6190-6192)CGC>TGC	p.R2064C	SPTB_uc001xhr.2_Missense_Mutation_p.R2064C|SPTB_uc001xhs.2_Missense_Mutation_p.R2064C|SPTB_uc001xhu.2_Missense_Mutation_p.R2064C|SPTB_uc010aqi.2_Missense_Mutation_p.R725C	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	2064	Spectrin 17.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		GCAGCAAAGCGCTCTGCCCAG	0.607													A	65234410	G	A	65234410	3	1	165	1	0	0	0	0	1	0	0	0	15117	1087	38	1	893	1	SPTB	14	65234410	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	510352	65234410	42115130	981	90134											
SLC8A3	6547	broad.mit.edu	37	chr14	70634344	70634344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcggtgtttgtctgtgcGgtactttttgtgcatgtatt	11	7	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:70634344G>A	uc001xly.2	-	2	1550	c.796C>T	c.(796-798)CGC>TGC	p.R266C	SLC8A3_uc001xlw.2_Missense_Mutation_p.R266C|SLC8A3_uc001xlx.2_Missense_Mutation_p.R266C|SLC8A3_uc001xlz.2_Missense_Mutation_p.R266C|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	266	Calmodulin-binding (By similarity).|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGTCTGTGCGGTACTTTTTG	0.468													A	70634344	G	A	70634344	3	1	165	1	0	0	0	0	1	0	0	0	14708	1116	39	1	2126	1	SLC8A3	14	70634344	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5399934	70634344	36715196	982	90135											
PSEN1	5663	broad.mit.edu	37	chr14	73637541	73637541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggagcacaacgacagaCggagccttggccaccctgag	14	13	0	2	rs140189461		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:73637541C>T	uc001xnr.2	+	4	408	c.124C>T	c.(124-126)CGG>TGG	p.R42W	PSEN1_uc001xnv.2_Missense_Mutation_p.R38W|PSEN1_uc010ark.2_Missense_Mutation_p.R38W|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.R42W	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	42	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|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|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CAACGACAGACGGAGCCTTGG	0.478													T	73637541	C	T	73637541	3	4	165	1	0	0	0	0	1	0	0	0	12650	527	19	1	130	1	PSEN1	14	73637541	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3003197	73637541	33711999	983	90136											
HEATR4	399671	broad.mit.edu	37	chr14	73964917	73964917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaaggtgtccctgacccGgtccccttgaagtttcaggg	13	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:73964917G>A	uc010tub.1	-	14	2810	c.2488C>T	c.(2488-2490)CGG>TGG	p.R830W	HEATR4_uc010tua.1_Missense_Mutation_p.R783W	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCCCTGACCCGGTCCCCTTGA	0.542													A	73964917	G	A	73964917	3	1	165	1	0	0	0	0	1	0	0	0	7030	1115	39	1	612	1	HEATR4	14	73964917	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	327376	73964917	33384623	984	90137											
ABCD4	5826	broad.mit.edu	37	chr14	74757130	74757130	+	Frame_Shift_Del	DEL	G	G	-													attaggggtttgtcagaggaGggggcagagatggagacccg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:74757129_74757129AG>A	uc001xpr.2	-	11	1344	c.1192_1192CT>T	c.(1192-1194)tccfs	p.S398fs	ABCD4_uc001xps.2_Frame_Shift_Del_p.S239fs|ABCD4_uc010tur.2_Frame_Shift_Del_p.S294fs|ABCD4_uc001xpu.2_Frame_Shift_Del_p.S135fs	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	398	ABC transporter.					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)		TTGTCAGAGGAGGGGGCAGAG	0.592											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	74757130	G	-	74757130	7	5	165	1	0	1	0	1	0	0	0	0	63	987	35	0	661	0	ABCD4	14	74757130	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	792213	74757130	32592410	985	90138											
YLPM1	56252	broad.mit.edu	37	chr14	75230947	75230948	+	Frame_Shift_Ins	INS	-	-	C													gctccaccaccaccgtccgcINScccccctggaaataagacaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:75230946_75230947G>GC	uc001xqj.4	+	0	878_879	c.754_755G>GC	c.(754-756)gccfs	p.A252fs		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	92					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)		ACCACCGTCCGCCCCCCCTGGA	0.579													C	75230948	-	C	75230947	7	5	165	1	0	1	1	0	0	0	0	0	17483	739	26	0	757	0	YLPM1	14	75230947	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	473817	75230947	32118593	986	90139											
BATF	10538	broad.mit.edu	37	chr14	76012887	76012887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaactgaagtacttcacgtCggtgctgaacagccacgagc	12	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:76012887C>T	uc001xrr.2	+	3	493	c.251C>T	c.(250-252)TCG>TTG	p.S84L		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	84						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		TACTTCACGTCGGTGCTGAAC	0.617													T	76012887	C	T	76012887	3	4	165	1	0	0	0	0	1	0	0	0	1325	893	31	1	261	1	BATF	14	76012887	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	781940	76012887	31336653	987	90140											
VASH1	22846	broad.mit.edu	37	chr14	77229171	77229171	+	Frame_Shift_Del	DEL	G	G	-													tcgaagatttagggatgccaGgggggaagaaggtggctggg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:77229171delG	uc001xst.2	+	1	937	c.7delG	c.(7-9)GGGfs	p.G3fs	VASH1_uc001xss.2_Frame_Shift_Del_p.G3fs	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					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					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647													-	77229171	G	-	77229171	7	5	165	1	0	1	0	1	0	0	0	0	17122	1000	35	0	9	0	VASH1	14	77229171	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1216284	77229171	30120369	988	90141											
STON2	85439	broad.mit.edu	37	chr14	81744923	81744923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagaggtgactggtggTaaagggcagctgacttcatt	16	5	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:81744923T>C	uc010tvu.1	-	4	933	c.732A>G	c.(730-732)TTA>TTG	p.L244L	STON2_uc001xvk.1_Silent_p.L244L|STON2_uc010tvt.1_Silent_p.L41L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	244					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGACTGGTGGTAAAGGGCAGC	0.512													C	81744923	T	C	81744923	2	2	165	1	0	0	0	0	0	0	0	1	15317	1635	57	3		3	STON2	14	81744923	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	4515752	81744923	25604617	989	90142											
C14orf159	80017	broad.mit.edu	37	chr14	91691032	91691032	+	Frame_Shift_Del	DEL	A	A	-													ccctatttttttccaggaagAaaaaatgctgggcatcttgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:91691031_91691031GA>G	uc001xyw.2	+	13	2072	c.1720_1720GA>G	c.(1720-1722)gaafs	p.E574fs	C14orf159_uc001xyz.2_Frame_Shift_Del_p.E445fs|C14orf159_uc001xzb.2_Frame_Shift_Del_p.E569fs|C14orf159_uc001xyx.2_Frame_Shift_Del_p.E517fs|C14orf159_uc001xzc.2_Frame_Shift_Del_p.E569fs|C14orf159_uc001xza.2_Frame_Shift_Del_p.E574fs|C14orf159_uc001xyv.2_Frame_Shift_Del_p.E534fs|C14orf159_uc001xze.2_Frame_Shift_Del_p.E569fs	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	569						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTTCCAGGAAGAAAAAATGCT	0.488													-	91691032	A	-	91691032	7	5	165	1	0	1	0	1	0	0	0	0	1755	246	9	0	1767	0	C14orf159	14	91691032	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	9946109	91691032	15658508	990	90143											
ATXN3	4287	broad.mit.edu	37	chr14	92548751	92548751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatcctcctcatcttcgTctaacattcctgagccatca	4	15	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:92548751T>C	uc001yac.3	-	8	737	c.668A>G	c.(667-669)GAC>GGC	p.D223G	ATXN3_uc010aug.2_Missense_Mutation_p.D208G|ATXN3_uc001yad.3_Missense_Mutation_p.D168G|ATXN3_uc010auh.2_Missense_Mutation_p.D157G|ATXN3_uc001yae.3_Missense_Mutation_p.D125G|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	223					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				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CTCATCTTCGTCTAACATTCC	0.448													C	92548751	T	C	92548751	3	2	165	1	0	0	0	0	1	0	0	0	1213	1667	58	3	433	3	ATXN3	14	92548751	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	857719	92548751	14800789	991	90144											
DDX24	57062	broad.mit.edu	37	chr14	94528520	94528520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtcagaaccagtccaAgcagaggacgctttggatat	13	8	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:94528520A>C	uc001ycj.2	-	3	1265	c.1166T>G	c.(1165-1167)CTT>CGT	p.L389R	DDX24_uc010twq.1_Missense_Mutation_p.L346R|DDX24_uc010twr.1_Missense_Mutation_p.L139R	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	389	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AACCAGTCCAAGCAGAGGACG	0.458													C	94528520	A	C	94528520	3	2	165	1	0	0	0	0	1	0	0	0	4351	72	3	5	1441	5	DDX24	14	94528520	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1979769	94528520	12821020	992	90145											
SERPINA11	256394	broad.mit.edu	37	chr14	94912669	94912669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgctgtgacacttaccTgggcaggagcaattggcccc	11	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:94912669T>C	uc001ydd.1	-	3	976	c.916A>G	c.(916-918)AGT>GGT	p.S306G		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	306					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		GACACTTACCTGGGCAGGAGC	0.562													C	94912669	T	C	94912669	3	2	165	1	0	0	0	0	1	0	0	0	14088	1594	55	3	364	3	SERPINA11	14	94912669	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	384149	94912669	12436871	993	90146											
HSP90AA1	3320	broad.mit.edu	37	chr14	102568317	102568317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagggaatgcagagacGtggaagggctgtttccagag	17	6	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:102568317G>A	uc001ykv.3	-	2	606	c.261C>T	c.(259-261)CAC>CAT	p.H87H		NM_001017963	NP_001017963	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 1	Error:Variant_position_missing_in_P07900_after_alignment					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			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ATGCAGAGACGTGGAAGGGCT	0.522													A	102568317	G	A	102568317	2	1	165	1	0	0	0	0	0	0	0	1	7401	1136	40	1		1	HSP90AA1	14	102568317	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	7655648	102568317	4781223	994	90147											
AMN	81693	broad.mit.edu	37	chr14	103390157	103390157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcgccgttgagttcccGgcggacaaggtgcctgggag	19	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:103390157G>A	uc001ymg.3	+	2	186	c.153G>A	c.(151-153)CCG>CCA	p.P51P	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	51	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAGTTCCCGGCGGACAAGG	0.716													A	103390157	G	A	103390157	2	1	165	1	0	0	0	0	0	0	0	1	580	1103	39	1		1	AMN	14	103390157	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	821840	103390157	3959383	995	90148											
MARK3	4140	broad.mit.edu	37	chr14	103958244	103958244	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggccagccccgggaacggCgaaccgcaacatataatggc	12	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:103958244C>T	uc001ymz.3	+	15	2383	c.1717C>T	c.(1717-1719)CGA>TGA	p.R573*	MARK3_uc001ymx.3_Nonsense_Mutation_p.R573*|MARK3_uc001ymw.3_Nonsense_Mutation_p.R573*|MARK3_uc001yna.3_Nonsense_Mutation_p.R557*|MARK3_uc001ymy.3_Nonsense_Mutation_p.R494*|MARK3_uc010awp.2_Nonsense_Mutation_p.R596*|MARK3_uc010tyb.1_Nonsense_Mutation_p.R368*|MARK3_uc010awq.2_Nonsense_Mutation_p.R155*	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	573							ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			CCGGGAACGGCGAACCGCAAC	0.572													T	103958244	C	T	103958244	4	4	165	1	0	0	0	0	0	1	0	0	9314	760	27	1	1775	1	MARK3	14	103958244	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	568087	103958244	3391296	996	90149											
TMEM121	80757	broad.mit.edu	37	chr14	105995256	105995256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccgtcatggacgcgtacCtggtggagcagaaccagggc	16	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr14:105995256C>A	uc001yrp.1	+	2	236	c.85C>A	c.(85-87)CTG>ATG	p.L29M	ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	hole protein	29	Helical; (Potential).					integral to membrane					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GGACGCGTACCTGGTGGAGCA	0.632													A	105995256	C	A	105995256	3	1	165	1	0	0	0	0	1	0	0	0	16032	680	24	5	87	5	TMEM121	14	105995256	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2037012	105995256	1354284	997	90150											
NDN	4692	broad.mit.edu	37	chr15	23931631	23931631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggacgcgctggtacttcAggtaattcatttggacgaac	12	8	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:23931631A>G	uc001ywk.2	-	1	820	c.734T>C	c.(733-735)CTG>CCG	p.L245P		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	245	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		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)		CTGGTACTTCAGGTAATTCAT	0.582									Prader-Willi_syndrome				G	23931631	A	G	23931631	3	3	165	1	0	0	0	0	1	0	0	0	10247	188	7	3	235	3	NDN	15	23931631	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08		23931631	78599761	998	90151											
HERC2	8924	broad.mit.edu	37	chr15	28443796	28443796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaggtgccccctttctgCtgccagtcacactgcacatt	8	15	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:28443796C>T	uc001zbj.2	-	49	7942	c.7836G>A	c.(7834-7836)CAG>CAA	p.Q2612Q	HERC2_uc001zbk.1_Silent_p.Q147Q	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2612					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CCCCTTTCTGCTGCCAGTCAC	0.453													T	28443796	C	T	28443796	2	4	165	1	0	0	0	0	0	0	0	1	7058	796	28	2		2	HERC2	15	28443796	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4512165	28443796	74087596	999	90152											
MTMR15	22909	broad.mit.edu	37	chr15	31197145	31197145	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagatttaaccagtgttacCttagaagatgtaacacctaa	7	7	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:31197145C>A	uc001zff.2	+	2	570	c.279C>A	c.(277-279)ACC>ACA	p.T93T	MTMR15_uc001zfc.3_Silent_p.T93T|MTMR15_uc010azw.2_Silent_p.T93T|MTMR15_uc001zfd.3_Silent_p.T93T|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	93					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		CCAGTGTTACCTTAGAAGATG	0.398								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	31197145	C	A	31197145	2	1	165	1	0	0	0	0	0	0	0	1	9943	668	24	5		5	MTMR15	15	31197145	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2753349	31197145	71334247	1000	90153											
RYR3	6263	broad.mit.edu	37	chr15	34130387	34130387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatctaagcgacagttcaTttttgatgttgtcaatgaag	10	5	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:34130387T>C	uc001zhi.2	+	89	12276	c.12206T>C	c.(12205-12207)ATT>ACT	p.I4069T	RYR3_uc010bar.2_Missense_Mutation_p.I4064T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4069					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CGACAGTTCATTTTTGATGTT	0.463													C	34130387	T	C	34130387	3	2	165	1	0	0	0	0	1	0	0	0	13770	1493	52	3	12560	3	RYR3	15	34130387	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2933242	34130387	68401005	1001	90154											
AQR	9716	broad.mit.edu	37	chr15	35167043	35167043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcataatccatcgttttagtCggctaaatccatcctgagga	7	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:35167043C>T	uc001ziv.2	-	29	3441	c.3260G>A	c.(3259-3261)CGA>CAA	p.R1087Q		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1087						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		TCGTTTTAGTCGGCTAAATCC	0.393													T	35167043	C	T	35167043	3	4	165	1	0	0	0	0	1	0	0	0	835	884	31	1	1225	1	AQR	15	35167043	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1036656	35167043	67364349	1002	90155											
BUB1B	701	broad.mit.edu	37	chr15	40488752	40488752	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcttctttaggacaccAtgtaaaattgaacctagtat	6	7	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:40488752A>G	uc001zkx.3	+	9	1277	c.1065A>G	c.(1063-1065)CCA>CCG	p.P355P	BUB1B_uc010ucl.1_Silent_p.P218P	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	355					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			stomach(2)|ovary(1)|kidney(1)	4		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)		TTAGGACACCATGTAAAATTG	0.348			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				G	40488752	A	G	40488752	2	3	165	1	0	0	0	0	0	0	0	1	1571	204	8	3		3	BUB1B	15	40488752	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	5321709	40488752	62042640	1003	90156											
TYRO3	7301	broad.mit.edu	37	chr15	41865886	41865886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtcccagtgggcgttcGgggtgaccatgtgggagatc	16	9	1	2	rs67202013		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:41865886G>A	uc001zof.1	+	18	2379	c.2155G>A	c.(2155-2157)GGG>AGG	p.G719R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	719	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		GTGGGCGTTCGGGGTGACCAT	0.572													A	41865886	G	A	41865886	3	1	165	1	0	0	0	0	1	0	0	0	16811	1116	39	1	2225	1	TYRO3	15	41865886	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1377134	41865886	60665506	1004	90157											
TYRO3	7301	broad.mit.edu	37	chr15	41870287	41870287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggatcagccctacaGtggggctggggatggcagtg	19	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:41870287G>A	uc001zof.1	+	19	2710	c.2486G>A	c.(2485-2487)AGT>AAT	p.S829N		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	829	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		CAGCCCTACAGTGGGGCTGGG	0.642													A	41870287	G	A	41870287	3	1	165	1	0	0	0	0	1	0	0	0	16811	1029	36	4	2560	4	TYRO3	15	41870287	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4401	41870287	60661105	1005	90158											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42133713	42133713	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggctgtcttcatgactcAggcccgggagctctcctgct	13	13	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:42133713A>C	uc010bco.2	+	7	537	c.436_splice	c.e7-2	p.A146_splice	JMJD7-PLA2G4B_uc001zoo.3_Splice_Site_p.A377_splice|JMJD7-PLA2G4B_uc010bcn.2_Splice_Site_p.A377_splice|JMJD7-PLA2G4B_uc001zoq.3_Splice_Site|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB						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			large_intestine(1)	1						TTCATGACTCAGGCCCGGGAG	0.612													C	42133713	A	C	42133713	5	2	165	1	0	0	0	0	0	0	1	0	7955	202	7	5	1173	5	JMJD7-PLA2G4B	15	42133713	Splice_Site	SNP	A	TCGA-CG-4305-01A-01D-1158-08	263426	42133713	60397679	1006	90159											
SPTBN5	51332	broad.mit.edu	37	chr15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctgccagtagctgccGcatggcgggcagcgagtctg	16	11	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:42178429G>A	uc001zos.2	-	7	1252	c.919C>T	c.(919-921)CGG>TGG	p.R307W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		AGTAGCTGCCGCATGGCGGGC	0.637													A	42178429	G	A	42178429	3	1	165	1	0	0	0	0	1	0	0	0	15121	1086	38	1	10248	1	SPTBN5	15	42178429	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	44716	42178429	60352963	1007	90160											
CDAN1	146059	broad.mit.edu	37	chr15	43023871	43023871	+	Frame_Shift_Del	DEL	G	G	-													ccttgacagcctgggaaggtGgggggtgggcagggcccccc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:43023870_43023870TG>T	uc001zql.3	-	10	1804	c.1687_1687CA>A	c.(1687-1689)accfs	p.T563fs	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	563						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)		CCTGGGAAGGTGGGGGGTGGG	0.607													-	43023871	G	-	43023871	7	5	165	1	0	1	0	1	0	0	0	0	3054	1335	47	0	2069	0	CDAN1	15	43023871	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	845442	43023871	59507521	1008	90161											
TP53BP1	7158	broad.mit.edu	37	chr15	43701201	43701202	+	Frame_Shift_Del	DEL	AC	AC	-													atcatggacccagacatgagAcacacaaggaatcccactgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:43701200_43701201GAC>G	uc001zrs.3	-	25	5627_5628	c.5479_5480GTC>C	c.(5479-5481)tctfs	p.S1827fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.S1825fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.S1830fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.S1832fs|TP53BP1_uc001zrp.3_Frame_Shift_Del_p.S244fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1827	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		CCAGACATGAGACACACAAGGA	0.495								Other conserved DNA damage response genes					-	43701202	AC	-	43701201	7	5	165	1	0	1	0	1	0	0	0	0	16380	275	10	0	451	0	TP53BP1	15	43701201	Frame_Shift_Del	DEL	AC	TCGA-CG-4305-01A-01D-1158-08	677330	43701201	58830191	1009	90162											
SLC24A5	283652	broad.mit.edu	37	chr15	48428959	48428959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattaaaattaaccaatatAttataaagaaatgcagtcct	3	6	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:48428959A>G	uc001zwe.2	+	6	743	c.670A>G	c.(670-672)ATT>GTT	p.I224V	SLC24A5_uc010bel.2_Missense_Mutation_p.I164V|uc001zwf.1_RNA	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	224	Cytoplasmic (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TAACCAATATATTATAAAGAA	0.388													G	48428959	A	G	48428959	3	3	165	1	0	0	0	0	1	0	0	0	14469	449	16	3	692	3	SLC24A5	15	48428959	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4727758	48428959	54102433	1010	90163											
CEP152	22995	broad.mit.edu	37	chr15	49044577	49044577	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgttgcttgtaaggccaaGggctgagcatggtgtccagc	14	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:49044577G>T	uc001zwy.2	-	21	3469	c.3435C>A	c.(3433-3435)CCC>CCA	p.P1145P	CEP152_uc001zwz.2_Silent_p.P1145P|CEP152_uc001zxa.1_Silent_p.P1052P	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1145					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTAAGGCCAAGGGCTGAGCAT	0.438													T	49044577	G	T	49044577	2	4	165	1	0	0	0	0	0	0	0	1	3248	987	35	5		5	CEP152	15	49044577	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	615618	49044577	53486815	1011	90164											
CEP152	22995	broad.mit.edu	37	chr15	49048345	49048345	+	Missense_Mutation	SNP	G	G	A													atagatttccagttggatccGcttggcttcctgcatagtcc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:49048345G>A	uc001zwy.2	-	20	3134	c.3100C>T	c.(3100-3102)CGG>TGG	p.R1034W	CEP152_uc001zwz.2_Missense_Mutation_p.R1034W|CEP152_uc001zxa.1_Missense_Mutation_p.R941W	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1034					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGTTGGATCCGCTTGGCTTCC	0.413													A	49048345	G	A	49048345	3	1	165	1	0	0	0	0	1	0	0	0	3248	1086	38	1	1892	1	CEP152	15	49048345	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3768	49048345	53483047	1012	90165	441	2									
CEP152	22995	broad.mit.edu	37	chr15	49048347	49048347	+	Missense_Mutation	SNP	T	T	C													agatttccagttggatccgcTtggcttcctgcatagtccat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:49048347T>C	uc001zwy.2	-	20	3132	c.3098A>G	c.(3097-3099)AAG>AGG	p.K1033R	CEP152_uc001zwz.2_Missense_Mutation_p.K1033R|CEP152_uc001zxa.1_Missense_Mutation_p.K940R	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1033					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTGGATCCGCTTGGCTTCCTG	0.413													C	49048347	T	C	49048347	3	2	165	1	0	0	0	0	1	0	0	0	3248	1609	56	3	1894	3	CEP152	15	49048347	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2	49048347	53483045	1013	90166	441	2									
ATP8B4	79895	broad.mit.edu	37	chr15	50193368	50193368	+	Frame_Shift_Del	DEL	T	T	-													aatccaactccagctgctgcTttttttcacaaactacatgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:50193367_50193367CT>C	uc001zxu.3	-	20	2353	c.2211_2211AG>G	c.(2209-2211)aagfs	p.K737fs	ATP8B4_uc010ber.3_Frame_Shift_Del_p.K610fs|ATP8B4_uc010ufd.2_Frame_Shift_Del_p.K547fs|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Frame_Shift_Del_p.K35fs	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	737					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)		CCAGCTGCTGCTTTTTTTCAC	0.358													-	50193368	T	-	50193368	7	5	165	1	0	1	0	1	0	0	0	0	1197	1609	56	0	1400	0	ATP8B4	15	50193368	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1145021	50193368	52338024	1014	90167											
CYP19A1	1588	broad.mit.edu	37	chr15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggataatgtttgtccccTttttcactgggtagccatcg	9	10	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:51504611T>C	uc001zyz.3	-	10	1420	c.1169A>G	c.(1168-1170)AAG>AGG	p.K390R	CYP19A1_uc001zza.3_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				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)	GTTTGTCCCCTTTTTCACTGG	0.413													C	51504611	T	C	51504611	3	2	165	1	0	0	0	0	1	0	0	0	4148	1609	56	3	350	3	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1311243	51504611	51026781	1015	90168											
DMXL2	23312	broad.mit.edu	37	chr15	51829690	51829690	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcaataaaatatacctgaaCttgtctaaatattccaggat	4	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:51829690C>G	uc002abf.2	-	11	1837	c.1612G>C	c.(1612-1614)GTT>CTT	p.V538L	DMXL2_uc010ufy.1_Missense_Mutation_p.V538L|DMXL2_uc010bfa.2_Missense_Mutation_p.V538L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	538						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TATACCTGAACTTGTCTAAAT	0.284													G	51829690	C	G	51829690	3	3	165	1	0	0	0	0	1	0	0	0	4595	565	20	5	7633	5	DMXL2	15	51829690	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	325079	51829690	50701702	1016	90169											
VPS13C	54832	broad.mit.edu	37	chr15	62244050	62244051	+	Frame_Shift_Ins	INS	-	-	T													tcaaagcactgcatactaatINStttttttagataagctttag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:62244049_62244050A>AT	uc002agz.3	-	38	4520_4521	c.4429_4430T>AT	c.(4429-4431)attfs	p.I1477fs	VPS13C_uc002aha.3_Frame_Shift_Ins_p.I1434fs|VPS13C_uc002ahb.2_Frame_Shift_Ins_p.I1477fs|VPS13C_uc002ahc.2_Frame_Shift_Ins_p.I1434fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1477					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						CTGCATACTAATTTTTTTTAGA	0.332													T	62244051	-	T	62244050	7	5	165	1	0	1	1	0	0	0	0	0	17188	1493	52	0	7048	0	VPS13C	15	62244050	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	10414360	62244050	40287342	1017	90170											
SNX1	6642	broad.mit.edu	37	chr15	64424090	64424090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctcctggccatagtccGcgtaagcttctgtttccttt	8	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:64424090G>A	uc002amv.2	+	11	1256	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	SNX1_uc010bgv.2_Missense_Mutation_p.R121H|SNX1_uc010uio.1_Missense_Mutation_p.R407H|SNX1_uc002amw.2_Missense_Mutation_p.R407H|SNX1_uc002amx.2_Missense_Mutation_p.R342H|SNX1_uc002amy.2_Missense_Mutation_p.R336H|SNX1_uc010bgw.2_Missense_Mutation_p.R309H	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	407	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						GCCATAGTCCGCGTAAGCTTC	0.468													A	64424090	G	A	64424090	3	1	165	1	0	0	0	0	1	0	0	0	14880	1101	38	1	1262	1	SNX1	15	64424090	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2180040	64424090	38107302	1018	90171											
TRIP4	9325	broad.mit.edu	37	chr15	64689965	64689965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactgtctgatctgtgggcGcattgtctgtgaacaagaag	12	7	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:64689965G>A	uc002anm.2	+	4	609	c.566G>A	c.(565-567)CGC>CAC	p.R189H		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	189					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			ovary(1)|kidney(1)|skin(1)	3						ATCTGTGGGCGCATTGTCTGT	0.468													A	64689965	G	A	64689965	3	1	165	1	0	0	0	0	1	0	0	0	16555	1087	38	1	580	1	TRIP4	15	64689965	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	265875	64689965	37841427	1019	90172											
IGDCC3	9543	broad.mit.edu	37	chr15	65623874	65623874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacattgcggggaggcccGgggagcccctcagcccacag	15	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:65623874G>A	uc002aos.2	-	8	1524	c.1272C>T	c.(1270-1272)CCC>CCT	p.P424P	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	424	Extracellular (Potential).|Fibronectin type-III 1.									ovary(3)	3						GGGGAGGCCCGGGGAGCCCCT	0.622													A	65623874	G	A	65623874	2	1	165	1	0	0	0	0	0	0	0	1	7568	1103	39	1		1	IGDCC3	15	65623874	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	933909	65623874	36907518	1020	90173											
SMAD6	4091	broad.mit.edu	37	chr15	67073679	67073679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcgcaaggtgccccccGgctactccatcaaggtgttc	11	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:67073679G>A	uc002aqf.2	+	4	2220	c.1297G>A	c.(1297-1299)GGC>AGC	p.G433S	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.G172S	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	433	MH2.				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			skin(1)	1						GGTGCCCCCCGGCTACTCCAT	0.726													A	67073679	G	A	67073679	3	1	165	1	0	0	0	0	1	0	0	0	14762	1116	39	1	1349	1	SMAD6	15	67073679	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1449805	67073679	35457713	1021	90174											
NOX5	79400	broad.mit.edu	37	chr15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-													ctcctcatcaagcggcccccTttttttcactatagacctgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				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	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|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						AAGCGGCCCCCTTTTTTTCAC	0.542													-	69331226	T	-	69331226	7	5	165	1	0	1	0	1	0	0	0	0	10559	1596	56	0	1468	0	NOX5	15	69331226	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	2257547	69331226	33200166	1022	90175											
MYO9A	4649	broad.mit.edu	37	chr15	72338102	72338102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagaataatctgttctActccactggcaaatcctttc	4	13	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:72338102A>G	uc002atl.3	-	2	1276	c.803T>C	c.(802-804)GTA>GCA	p.V268A	MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.V268A|MYO9A_uc002atn.1_Missense_Mutation_p.V268A	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	268	Myosin head-like 1.				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			ovary(1)|pancreas(1)|skin(1)	3						AATCTGTTCTACTCCACTGGC	0.378													G	72338102	A	G	72338102	3	3	165	1	0	0	0	0	1	0	0	0	10084	391	14	3	7007	3	MYO9A	15	72338102	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	3006876	72338102	30193290	1023	90176											
SCAMP2	10066	broad.mit.edu	37	chr15	75146364	75146364	+	Splice_Site	DEL	G	G	-													gttctttgtcagcactacctGgggggtcggctgggttggtt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75146363_75146363TG>T	uc002azb.1	-	3	299	c.225_splice	c.e3+1	p.Q75_splice	SCAMP2_uc002aza.1_Splice_Site	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	75					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAGCACTACCTGGGGGGTCGG	0.572													-	75146364	G	-	75146364	8	5	165	1	0	1	0	1	0	0	1	0	13871	1357	47	0	794	0	SCAMP2	15	75146364	Splice_Site	DEL	G	TCGA-CG-4305-01A-01D-1158-08	2808262	75146364	27385028	1024	90177											
SIN3A	25942	broad.mit.edu	37	chr15	75705355	75705355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctttgaatagctgggAcacacgactaatcactcctg	10	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75705355A>G	uc002bai.2	-	5	764	c.505T>C	c.(505-507)TCC>CCC	p.S169P	SIN3A_uc002baj.2_Missense_Mutation_p.S169P|SIN3A_uc010uml.1_Missense_Mutation_p.S169P	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	169	Interaction with HCFC1.|PAH 1.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						AATAGCTGGGACACACGACTA	0.413													G	75705355	A	G	75705355	3	3	165	1	0	0	0	0	1	0	0	0	14325	275	10	3	3384	3	SIN3A	15	75705355	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	558991	75705355	26826037	1025	90178											
SNX33	257364	broad.mit.edu	37	chr15	75942332	75942332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaagcaggccactggcCgcttcgaggaggacttcatc	13	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75942332C>T	uc002bau.2	+	1	985	c.889C>T	c.(889-891)CGC>TGC	p.R297C	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	297	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						GGCCACTGGCCGCTTCGAGGA	0.572													T	75942332	C	T	75942332	3	4	165	1	0	0	0	0	1	0	0	0	14903	652	23	1	891	1	SNX33	15	75942332	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	236977	75942332	26589060	1026	90179											
CSPG4	1464	broad.mit.edu	37	chr15	75979930	75979930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggacctcatccccactgCggatgtcgaggttggtgtcc	13	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75979930C>T	uc002baw.2	-	3	3569	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1159	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 7.				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			ovary(2)|pancreas(1)	3						ATCCCCACTGCGGATGTCGAG	0.657													T	75979930	C	T	75979930	3	4	165	1	0	0	0	0	1	0	0	0	3960	768	27	1	3524	1	CSPG4	15	75979930	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	37598	75979930	26551462	1027	90180											
CSPG4	1464	broad.mit.edu	37	chr15	75981580	75981580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcggtcgccggctccccaGgctggtctcggcgctccacg	13	18	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:75981580G>T	uc002baw.2	-	3	1919	c.1826C>A	c.(1825-1827)CCT>CAT	p.P609H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	609	Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|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			ovary(2)|pancreas(1)	3						CGGCTCCCCAGGCTGGTCTCG	0.667													T	75981580	G	T	75981580	3	4	165	1	0	0	0	0	1	0	0	0	3960	1000	35	5	5174	5	CSPG4	15	75981580	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1650	75981580	26549812	1028	90181											
ZFAND6	54469	broad.mit.edu	37	chr15	80423588	80423589	+	Frame_Shift_Ins	INS	-	-	A													tctcttgaaaaaccgaaacaINSaaaaaagaatcgctgtttca					rs15416		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:80423587_80423588C>CA	uc002bfe.2	+	5	852_853	c.430_431C>CA	c.(430-432)caafs	p.Q144fs	ZFAND6_uc021srv.1_Intron|ZFAND6_uc021srw.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfg.2_Frame_Shift_Ins_p.Q132fs|ZFAND6_uc002bff.2_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc021srx.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc021sry.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfh.2_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfi.2_Frame_Shift_Ins_p.Q144fs	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	144							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAACCGAAACAAAAAAAGAAT	0.342													A	80423589	-	A	80423588	7	5	165	1	0	1	1	0	0	0	0	0	17628	130	5	0	445	0	ZFAND6	15	80423588	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	4442008	80423588	22107804	1029	90182											
AGBL1	123624	broad.mit.edu	37	chr15	86940602	86940602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctttttctgcaggacatCgtccatatcaggtgatcact	7	12	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:86940602C>T	uc002blz.1	+	17	2322	c.2242C>T	c.(2242-2244)CGT>TGT	p.R748C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TGCAGGACATCGTCCATATCA	0.398													T	86940602	C	T	86940602	3	4	165	1	0	0	0	0	1	0	0	0	375	884	31	1	2304	1	AGBL1	15	86940602	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6517014	86940602	15590790	1030	90183											
MCTP2	55784	broad.mit.edu	37	chr15	94910906	94910907	+	Frame_Shift_Ins	INS	-	-	G													tgccactggacagctgtctgINSggggctctccttatgttggt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:94910905_94910906T>TG	uc002btj.3	+	9	1438_1439	c.1373_1374T>TG	c.(1372-1374)ctgfs	p.L458fs	MCTP2_uc002bti.2_Frame_Shift_Ins_p.L458fs|MCTP2_uc010boj.3_Frame_Shift_Ins_p.L187fs|MCTP2_uc010bok.3_Frame_Shift_Ins_p.L458fs|MCTP2_uc002btk.4_Frame_Shift_Ins_p.L46fs|MCTP2_uc002btl.3_Frame_Shift_Ins_p.L46fs	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	458					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)			GACAGCTGTCTGGGGGCTCTCC	0.535													G	94910907	-	G	94910906	7	5	165	1	0	1	1	0	0	0	0	0	9401	1335	47	0	1412	0	MCTP2	15	94910906	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	7970304	94910906	7620486	1031	90184											
LRRK1	79705	broad.mit.edu	37	chr15	101562123	101562123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctggacactgaagacCtgaccatcagcaatgtgcct	11	12	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:101562123C>A	uc002bwr.2	+	14	2132	c.1813C>A	c.(1813-1815)CTG>ATG	p.L605M	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	605	LRR 13.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			CACTGAAGACCTGACCATCAG	0.582													A	101562123	C	A	101562123	3	1	165	1	0	0	0	0	1	0	0	0	9032	680	24	5	1863	5	LRRK1	15	101562123	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6651217	101562123	969269	1032	90185											
LRRK1	79705	broad.mit.edu	37	chr15	101593607	101593607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagcctcaacaccgtgCtgtccgagaacgccagaggt	11	14	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr15:101593607C>T	uc002bwr.2	+	26	4355	c.4036C>T	c.(4036-4038)CTG>TTG	p.L1346L	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1346	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			CAACACCGTGCTGTCCGAGAA	0.592													T	101593607	C	T	101593607	2	4	165	1	0	0	0	0	0	0	0	1	9032	796	28	2		2	LRRK1	15	101593607	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	31484	101593607	937785	1033	90186											
PDIA2	64714	broad.mit.edu	37	chr16	336905	336905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaacgggggcgtgctgcCcacggaggagcccccggagg	19	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:336905C>A	uc002cgn.1	+	15	2601	c.1493C>A	c.(1492-1494)CCC>CAC	p.P498H	PDIA2_uc010bqt.1_Missense_Mutation_p.P343H|PDIA2_uc002cgo.1_Missense_Mutation_p.P498H	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	498					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			central_nervous_system(1)|skin(1)	2		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)				GGCGTGCTGCCCACGGAGGAG	0.617													A	336905	C	A	336905	3	1	165	1	0	0	0	0	1	0	0	0	11668	623	22	5	1531	5	PDIA2	16	336905	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08		336905	90017848	1034	90187											
SOLH	6650	broad.mit.edu	37	chr16	597450	597450	+	Frame_Shift_Del	DEL	C	C	-													gccgcgcctccacctggcctCcccggggaaggtgccgaggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:597450delC	uc002chi.2	+	4	975	c.612delC	c.(610-612)CTCfs	p.L204fs	SOLH_uc002chh.1_Frame_Shift_Del_p.L204fs	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	204					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				CACCTGGCCTCCCCGGGGAAG	0.741													-	597450	C	-	597450	7	5	165	1	0	1	0	1	0	0	0	0	14925	842	30	0	614	0	SOLH	16	597450	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	260545	597450	89757303	1035	90188											
MSLNL	401827	broad.mit.edu	37	chr16	824999	824999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcagttgctggtcggAggcgctgagtcgcaggcggg	19	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:824999A>G	uc002cjz.1	-	7	1573	c.1573T>C	c.(1573-1575)TCC>CCC	p.S525P		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	174	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						TGCTGGTCGGAGGCGCTGAGT	0.736													G	824999	A	G	824999	3	3	165	1	0	0	0	0	1	0	0	0	9882	304	11	3	1628	3	MSLNL	16	824999	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	227549	824999	89529754	1036	90189											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817604	1817604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcgggagagccaggtgCggcagctggcgtggatcggc	21	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:1817604C>T	uc002cmk.2	+	27	3394	c.3274C>T	c.(3274-3276)CGG>TGG	p.R1092W	MAPK8IP3_uc002cml.2_Missense_Mutation_p.R1086W|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R1093W	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1092					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GAGCCAGGTGCGGCAGCTGGC	0.642													T	1817604	C	T	1817604	3	4	165	1	0	0	0	0	1	0	0	0	9286	759	27	1	3396	1	MAPK8IP3	16	1817604	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	992605	1817604	88537149	1037	90190											
CCNF	899	broad.mit.edu	37	chr16	2489817	2489817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacgctgccaaaggctgctGggaagcgcaggtgaggtgcg	17	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:2489817G>T	uc002cqd.1	+	8	855	c.767G>T	c.(766-768)TGG>TTG	p.W256L	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	256					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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				AAAGGCTGCTGGGAAGCGCAG	0.612													T	2489817	G	T	2489817	3	4	165	1	0	0	0	0	1	0	0	0	2922	1357	47	5	797	5	CCNF	16	2489817	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	672213	2489817	87864936	1038	90191											
PRSS27	83886	broad.mit.edu	37	chr16	2764172	2764172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtaattggtgaagggCactggtgcctccagctccac	13	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:2764172C>T	uc002crf.2	-	4	793	c.402G>A	c.(400-402)GTG>GTA	p.V134V	PRSS27_uc002cre.2_Silent_p.V98V|PRSS27_uc002crg.2_Silent_p.V32V|PRSS27_uc010bst.1_Silent_p.V32V	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	134	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						TGGTGAAGGGCACTGGTGCCT	0.647													T	2764172	C	T	2764172	2	4	165	1	0	0	0	0	0	0	0	1	12621	697	25	2		2	PRSS27	16	2764172	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	274355	2764172	87590581	1039	90192											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139475	3139475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcccctgtgtggatgcGctggtggcgcgccaggtggg	17	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:3139475G>A	uc002ctv.1	-	5	1883	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R260C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R517C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R527C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	599	C2H2-type 10.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GTGTGGATGCGCTGGTGGCGC	0.716													A	3139475	G	A	3139475	3	1	165	1	0	0	0	0	1	0	0	0	18224	1087	38	1	386	1	ZSCAN10	16	3139475	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	375303	3139475	87215278	1040	90193											
MEFV	4210	broad.mit.edu	37	chr16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacctgcagggtgagctGcacggcgtactcttccccat	12	14	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:3306386G>A	uc002cun.1	-	1	242	c.202C>T	c.(202-204)CAG>TAG	p.Q68*		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	68	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	AGGGTGAGCTGCACGGCGTAC	0.657													A	3306386	G	A	3306386	4	1	165	1	0	0	0	0	0	1	0	0	9459	1328	46	2	2183	2	MEFV	16	3306386	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	166911	3306386	87048367	1041	90194											
NLRC3	197358	broad.mit.edu	37	chr16	3614549	3614549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagacacccgggagagaGgcaggaagagccggtccagg	18	10	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:3614549G>T	uc010btn.2	-	5	800	c.389C>A	c.(388-390)CCT>CAT	p.P130H		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	130					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CCGGGAGAGAGGCAGGAAGAG	0.701													T	3614549	G	T	3614549	3	4	165	1	0	0	0	0	1	0	0	0	10468	1000	35	5	2873	5	NLRC3	16	3614549	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	308163	3614549	86740204	1042	90195											
UBN1	29855	broad.mit.edu	37	chr16	4924298	4924300	+	In_Frame_Del	DEL	AGG	AGG	-													ttgccctcagatcaccaaacAggaggcctgagtattggggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:4924297_4924299CAGG>C	uc002cyb.3	+	14	2225_2227	c.1886_1888CAGG>C	c.(1885-1890)acagga>aCga	p.G631del	UBN1_uc010uxw.2_In_Frame_Del_p.G631del|UBN1_uc002cyc.3_In_Frame_Del_p.G631del	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	631					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	p.G630E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GATCACCAAACAGGAGGCCTGAG	0.542													-	4924300	AGG	-	4924298	7	5	165	1	0	1	0	1	0	0	0	0	16889	175	7	0	1941	0	UBN1	16	4924298	In_Frame_Del	DEL	AGG	TCGA-CG-4305-01A-01D-1158-08	1309749	4924298	85430455	1043	90196											
USP7	7874	broad.mit.edu	37	chr16	8995029	8995029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatattggtgtgtagatatGcccacagtaattcaagctcc	10	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:8995029G>A	uc002czl.2	-	19	2309	c.2110C>T	c.(2110-2112)CAT>TAT	p.H704Y	USP7_uc010uyk.1_Missense_Mutation_p.H605Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.H605Y|USP7_uc002czk.2_Missense_Mutation_p.H688Y	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	704	Interaction with ICP0/VMW110.				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			ovary(3)	3						GTGTAGATATGCCCACAGTAA	0.343													A	8995029	G	A	8995029	3	1	165	1	0	0	0	0	1	0	0	0	17085	1319	46	2	1250	2	USP7	16	8995029	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4070731	8995029	81359724	1044	90197											
GRIN2A	2903	broad.mit.edu	37	chr16	10031878	10031878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtagcagctggccttggcCtcggggatgtaggagaactt	15	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:10031878C>A	uc002czo.3	-	3	1493	c.945G>T	c.(943-945)GAG>GAT	p.E315D	GRIN2A_uc010uym.1_Missense_Mutation_p.E315D|GRIN2A_uc010uyn.1_Missense_Mutation_p.E158D|GRIN2A_uc002czr.3_Missense_Mutation_p.E315D	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	315	Extracellular (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGCCTTGGCCTCGGGGATGT	0.577													A	10031878	C	A	10031878	3	1	165	1	0	0	0	0	1	0	0	0	6779	680	24	5	3493	5	GRIN2A	16	10031878	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1036849	10031878	80322875	1045	90198											
CPPED1	55313	broad.mit.edu	37	chr16	12798726	12798726	+	Frame_Shift_Del	DEL	C	C	-													tgaggaccaggaacaggacgCccccgacccagaagctgaag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:12798725_12798725GC>G	uc002dca.4	-	2	582	c.471_471GC>C	c.(469-471)ggcfs	p.G157fs	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	157							hydrolase activity|metal ion binding	p.G156W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GGAACAGGACGCCCCCGACCC	0.612													-	12798726	C	-	12798726	7	5	165	1	0	1	0	1	0	0	0	0	3822	739	26	0	482	0	CPPED1	16	12798726	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	2766848	12798726	77556027	1046	90199											
ERCC4	2072	broad.mit.edu	37	chr16	14041518	14041518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcatagttgtggatatgCgtgaatttcgaagtgagctt	12	4	0	2	rs149364215		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:14041518C>T	uc002dce.2	+	11	2074	c.2065C>T	c.(2065-2067)CGT>TGT	p.R689C	ERCC4_uc010uyz.1_Missense_Mutation_p.R239C	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	689	ERCC4.|Interaction with EME1 and ERCC1.				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			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						TGTGGATATGCGTGAATTTCG	0.443			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	14041518	C	T	14041518	3	4	165	1	0	0	0	0	1	0	0	0	5215	768	27	1	2107	1	ERCC4	16	14041518	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1242792	14041518	76313235	1047	90200											
MYH11	4629	broad.mit.edu	37	chr16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-													tcctgcacctgcgcctccagCttcttcttcttatgttccac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:15820794_15820796GCTT>G	uc002ddx.3	-	28	3895_3897	c.3788_3790AAGC>C	c.(3787-3792)aagctg>aCtg	p.1263_1264KL>T	MYH11_uc002ddv.3_In_Frame_Del_p.1263_1264KL>T|MYH11_uc002ddw.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc002ddy.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc010bvg.3_In_Frame_Del_p.1088_1089KL>T|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1256			Missing (in AAT4).		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	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(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						TGCGCCTCCAGCTTCTTCTTCTT	0.616			T	CBFB	AML								-	15820797	CTT	-	15820795	7	5	165	1	0	1	0	1	0	0	0	0	10031	796	28	0	2241	0	MYH11	16	15820795	In_Frame_Del	DEL	CTT	TCGA-CG-4305-01A-01D-1158-08	1779277	15820795	74533958	1048	90201											
COQ7	10229	broad.mit.edu	37	chr16	19083251	19083251	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaacacttgcatttcagcTtatggaagaagaaccagtgt	8	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:19083251T>G	uc002dfr.2	+	2	135	c.75T>G	c.(73-75)GCT>GCG	p.A25A	COQ7_uc002dfs.2_Silent_p.A11A	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	25					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						GCATTTCAGCTTATGGAAGAA	0.403											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	19083251	T	G	19083251	2	3	165	1	0	0	0	0	0	0	0	1	3750	1623	56	5		5	COQ7	16	19083251	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3262456	19083251	71271502	1049	90202											
TMC5	79838	broad.mit.edu	37	chr16	19474619	19474620	+	Frame_Shift_Ins	INS	-	-	A													aggaaaatagttgacaaagaINSaaaaagcaaacagacccatc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:19474618_19474619G>GA	uc002dgc.4	+	6	1914_1915	c.1165_1166G>GA	c.(1165-1167)gaafs	p.E389fs	TMC5_uc010vaq.2_Frame_Shift_Ins_p.E389fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.E389fs|TMC5_uc010var.2_Frame_Shift_Ins_p.E389fs|TMC5_uc002dgd.1_Frame_Shift_Ins_p.E143fs|TMC5_uc002dge.4_Frame_Shift_Ins_p.E143fs|TMC5_uc002dgf.4_Frame_Shift_Ins_p.E72fs|TMC5_uc002dgg.4_Frame_Shift_Ins_p.E30fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	389						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						AGTTGACAAAGAAAAAAGCAAA	0.406													A	19474620	-	A	19474619	7	5	165	1	0	1	1	0	0	0	0	0	15985	246	9	0	1498	0	TMC5	16	19474619	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	391368	19474619	70880134	1050	90203											
TMC5	79838	broad.mit.edu	37	chr16	19485561	19485561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggcttgtggagaggtacGagatgccacggcacgaagtc	15	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:19485561G>A	uc002dgc.3	+	12	2802	c.2053G>A	c.(2053-2055)GAG>AAG	p.E685K	TMC5_uc010vaq.1_Missense_Mutation_p.E633K|TMC5_uc002dgb.3_Missense_Mutation_p.E685K|TMC5_uc010var.1_Missense_Mutation_p.E685K|TMC5_uc002dgd.1_Missense_Mutation_p.E439K|TMC5_uc002dge.3_Missense_Mutation_p.E439K|TMC5_uc002dgf.3_Missense_Mutation_p.E368K|TMC5_uc002dgg.3_Missense_Mutation_p.E326K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	685	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						GGAGAGGTACGAGATGCCACG	0.552													A	19485561	G	A	19485561	3	1	165	1	0	0	0	0	1	0	0	0	15985	1059	37	1	2405	1	TMC5	16	19485561	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	10942	19485561	70869192	1051	90204											
EEF2K	29904	broad.mit.edu	37	chr16	22268599	22268599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacttcacttttgagcGttccggccatcagctgatag	9	13	2	2	rs143471765		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:22268599G>A	uc002dki.2	+	8	1279	c.794G>A	c.(793-795)CGT>CAT	p.R265H	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	265	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			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		ACTTTTGAGCGTTCCGGCCAT	0.577													A	22268599	G	A	22268599	3	1	165	1	0	0	0	0	1	0	0	0	4930	1145	40	1	820	1	EEF2K	16	22268599	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2783038	22268599	68086154	1052	90205											
EEF2K	29904	broad.mit.edu	37	chr16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgctggccagggaggccGagatgctgttcacaggaggc	17	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:22291646G>A	uc002dki.2	+	17	2502	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	673					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			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637													A	22291646	G	A	22291646	3	1	165	1	0	0	0	0	1	0	0	0	4930	1059	37	1	2079	1	EEF2K	16	22291646	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	23047	22291646	68063107	1053	90206											
SRCAP	10847	broad.mit.edu	37	chr16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C													cccccggcctcgacgccagcINScccccccaccacctcgttcc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	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)			CTCGACGCCAGCCCCCCCCACC	0.569													C	30736372	-	C	30736371	7	5	165	1	0	1	1	0	0	0	0	0	15134	739	26	0	5716	0	SRCAP	16	30736371	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	8444725	30736371	59618382	1054	90207											
HSD3B7	80270	broad.mit.edu	37	chr16	30999155	30999155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcaaccctgatgggcgGccaggtatacttctgctacg	14	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:30999155G>A	uc002eaf.2	+	7	867	c.761G>A	c.(760-762)GGC>GAC	p.G254D	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.G254D	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	254					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				0						CTGATGGGCGGCCAGGTATAC	0.652													A	30999155	G	A	30999155	3	1	165	1	0	0	0	0	1	0	0	0	7392	1203	42	2	783	2	HSD3B7	16	30999155	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	262784	30999155	59355598	1055	90208											
ZNF668	79759	broad.mit.edu	37	chr16	31075373	31075373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcggaagggcagttcGccagcgtgcgaggccaggtg	18	11	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:31075373G>A	uc010caf.2	-	2	765	c.408C>T	c.(406-408)GGC>GGT	p.G136G	ZNF668_uc002eao.2_Silent_p.G136G|ZNF668_uc010cag.1_Silent_p.G136G	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						AGGGCAGTTCGCCAGCGTGCG	0.701													A	31075373	G	A	31075373	2	1	165	1	0	0	0	0	0	0	0	1	18072	1074	38	1		1	ZNF668	16	31075373	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	76218	31075373	59279380	1056	90209											
PRSS36	146547	broad.mit.edu	37	chr16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-													gctcagctccaggagggccaGggggggcctgagtcccaggt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:31151941_31151941AG>A	uc002ebd.3	-	12	2098	c.2039_2039CT>T	c.(2038-2040)ctgfs	p.L680fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGAGGGCCAGGGGGGGCCT	0.731													-	31151942	G	-	31151942	7	5	165	1	0	1	0	1	0	0	0	0	12625	991	35	0	541	0	PRSS36	16	31151942	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	76569	31151942	59202811	1057	90210											
HEATR3	55027	broad.mit.edu	37	chr16	50112651	50112651	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcttgtttttttcccaGgcacaatttggaatctaaag	7	7	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:50112651G>C	uc002efw.2	+	7	926	c.764_splice	c.e7-1	p.G255_splice	HEATR3_uc002efx.2_Splice_Site_p.G169_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3								binding			ovary(1)|skin(1)	2						TTTTTTCCCAGGCACAATTTG	0.343													C	50112651	G	C	50112651	5	2	165	1	0	0	0	0	0	0	1	0	7029	1014	35	5	789	5	HEATR3	16	50112651	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	18960709	50112651	40242102	1058	90211											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53675003	53675003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatctacaggtgttaaaCgttgtcttggtttaggtctt	9	6	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:53675003C>T	uc002ehp.2	-	19	2964	c.2900G>A	c.(2899-2901)CGT>CAT	p.R967H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.R967H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R967H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R967H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R967H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	967					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				AGGTGTTAAACGTTGTCTTGG	0.353													T	53675003	C	T	53675003	3	4	165	1	0	0	0	0	1	0	0	0	13550	536	19	1	1083	1	RPGRIP1L	16	53675003	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3562352	53675003	36679750	1059	90212											
CCDC135	84229	broad.mit.edu	37	chr16	57760089	57760089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgcgctaccactgccGtgaggaccacatcacggcct	10	17	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:57760089G>A	uc002emi.2	+	13	1957	c.1868G>A	c.(1867-1869)CGT>CAT	p.R623H	CCDC135_uc002emj.2_Missense_Mutation_p.R623H|CCDC135_uc002emk.2_Missense_Mutation_p.R558H	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	623						cytoplasm				central_nervous_system(1)	1						TACCACTGCCGTGAGGACCAC	0.642													A	57760089	G	A	57760089	3	1	165	1	0	0	0	0	1	0	0	0	2769	1145	40	1	1914	1	CCDC135	16	57760089	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4085086	57760089	32594664	1060	90213											
CNGB1	1258	broad.mit.edu	37	chr16	57931726	57931726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaacacagatccagcTttcagcgtcaccagcacaga	6	15	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:57931726T>G	uc002emt.2	-	30	3134	c.3069A>C	c.(3067-3069)AAA>AAC	p.K1023N	CNGB1_uc010cdh.2_Missense_Mutation_p.K1017N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1023	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAGATCCAGCTTTCAGCGTCA	0.592													G	57931726	T	G	57931726	3	3	165	1	0	0	0	0	1	0	0	0	3600	1606	56	5	702	5	CNGB1	16	57931726	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	171637	57931726	32423027	1061	90214											
PRSS54	221191	broad.mit.edu	37	chr16	58314157	58314157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaaaagaaaacaagcaCgaaggaaaccaagatgattt	9	7	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:58314157C>T	uc002enf.2	-	7	1554	c.1159G>A	c.(1159-1161)GTG>ATG	p.V387M	PRSS54_uc002eng.2_Missense_Mutation_p.V387M|PRSS54_uc010vie.1_Missense_Mutation_p.V288M|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	387					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AAAACAAGCACGAAGGAAACC	0.463													T	58314157	C	T	58314157	3	4	165	1	0	0	0	0	1	0	0	0	12633	536	19	1	32	1	PRSS54	16	58314157	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	382431	58314157	32040596	1062	90215											
CDH8	1006	broad.mit.edu	37	chr16	61747823	61747823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagaaataatgtccgttttTgggatcatctttgtccatgg	9	6	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:61747823T>G	uc002eog.1	-	10	1828	c.1576A>C	c.(1576-1578)AAA>CAA	p.K526Q		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	526	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		TGTCCGTTTTTGGGATCATCT	0.378													G	61747823	T	G	61747823	3	3	165	1	0	0	0	0	1	0	0	0	3116	1821	63	5	835	5	CDH8	16	61747823	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3433666	61747823	28606930	1063	90216											
TK2	7084	broad.mit.edu	37	chr16	66551046	66551046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcctcttaccagcggaAtgaccttctcctcttccctg	8	15	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:66551046A>G	uc002eos.2	-	8	962	c.737T>C	c.(736-738)ATT>ACT	p.I246T	TK2_uc010vip.1_Missense_Mutation_p.I107T|TK2_uc002eor.2_Missense_Mutation_p.I173T|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_Missense_Mutation_p.I155T|TK2_uc010viq.1_Missense_Mutation_p.I228T|TK2_uc010vir.1_Missense_Mutation_p.I221T	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	204					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TACCAGCGGAATGACCTTCTC	0.502											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	G	66551046	A	G	66551046	3	3	165	1	0	0	0	0	1	0	0	0	15930	101	4	3	198	3	TK2	16	66551046	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	4803223	66551046	23803707	1064	90217											
CMTM1	113540	broad.mit.edu	37	chr16	66612846	66612846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaagttgaaaggaagctttCccccgccaaggacgcctacc	10	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:66612846C>T	uc002epi.3	+	4	575	c.452C>T	c.(451-453)TCC>TTC	p.S151F	CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_RNA|CMTM1_uc002epe.3_RNA|CMTM1_uc002epf.3_RNA|CMTM1_uc002epg.3_RNA|CMTM1_uc002eph.3_3'UTR|CMTM1_uc002epl.3_Missense_Mutation_p.S104F|CMTM1_uc002epj.3_3'UTR|CMTM1_uc002epk.3_Missense_Mutation_p.S98F|CMTM1_uc002epa.3_3'UTR|CMTM1_uc002epn.3_3'UTR|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.S268F|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN	chemokine-like factor superfamily 1 isoform 1	151					chemotaxis	extracellular space|integral to membrane	cytokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AGGAAGCTTTCCCCCGCCAAG	0.597													T	66612846	C	T	66612846	3	4	165	1	0	0	0	0	1	0	0	0	3582	855	30	4	817	4	CMTM1	16	66612846	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	61800	66612846	23741907	1065	90218											
FAM65A	79567	broad.mit.edu	37	chr16	67576836	67576836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctccaattcctacactcAggcagaccctatggccccca	6	17	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:67576836A>G	uc010vjp.1	+	13	2303	c.2207A>G	c.(2206-2208)CAG>CGG	p.Q736R	FAM65A_uc010cei.1_Missense_Mutation_p.Q558R|FAM65A_uc002eth.2_Missense_Mutation_p.Q716R|FAM65A_uc010cej.2_Missense_Mutation_p.Q719R|FAM65A_uc002eti.1_Missense_Mutation_p.Q679R|FAM65A_uc010vjq.1_Missense_Mutation_p.Q730R|FAM65A_uc002etj.1_Missense_Mutation_p.Q715R|FAM65A_uc002etk.2_Missense_Mutation_p.Q715R	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	720	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		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)		TCCTACACTCAGGCAGACCCT	0.597													G	67576836	A	G	67576836	3	3	165	1	0	0	0	0	1	0	0	0	5599	188	7	3	2193	3	FAM65A	16	67576836	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	963990	67576836	22777917	1066	90219											
SMPD3	55512	broad.mit.edu	37	chr16	68406042	68406042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacacacagtgcagggCggacagacagctgttaggaa	14	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:68406042C>T	uc002ewa.2	-	3	465	c.43G>A	c.(43-45)GCC>ACC	p.A15T	SMPD3_uc010cfe.2_Missense_Mutation_p.A15T|SMPD3_uc010vlh.1_Missense_Mutation_p.A15T	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	15	Helical; (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGTGCAGGGCGGACAGACAG	0.627													T	68406042	C	T	68406042	3	4	165	1	0	0	0	0	1	0	0	0	14806	768	27	1	1952	1	SMPD3	16	68406042	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	829206	68406042	21948711	1067	90220											
ZFP90	146198	broad.mit.edu	37	chr16	68597623	68597623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggagagaaaccctatcaGtgtagtctctgtgggaaagc	12	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:68597623G>A	uc010cff.2	+	5	1225	c.933G>A	c.(931-933)CAG>CAA	p.Q311Q	ZFP90_uc002ewb.2_Missense_Mutation_p.S117N|ZFP90_uc002ewc.2_Missense_Mutation_p.S117N|ZFP90_uc002ewd.2_Silent_p.Q311Q|ZFP90_uc002ewe.2_Silent_p.Q311Q	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	311	C2H2-type 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AACCCTATCAGTGTAGTCTCT	0.488													A	68597623	G	A	68597623	2	1	165	1	0	0	0	0	0	0	0	1	17651	1020	36	4		4	ZFP90	16	68597623	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	191581	68597623	21757130	1068	90221											
ZFP90	146198	broad.mit.edu	37	chr16	68598358	68598358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccctatgaatgtatTgactgtgggaaagcctttag	11	6	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:68598358T>C	uc010cff.2	+	5	1960	c.1668T>C	c.(1666-1668)ATT>ATC	p.I556I	ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.I556I|ZFP90_uc002ewe.2_Silent_p.I556I	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	556	C2H2-type 11.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATGAATGTATTGACTGTGGGA	0.438													C	68598358	T	C	68598358	2	2	165	1	0	0	0	0	0	0	0	1	17651	1800	63	3		3	ZFP90	16	68598358	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	735	68598358	21756395	1069	90222											
NOB1	28987	broad.mit.edu	37	chr16	69782978	69782979	+	In_Frame_Ins	INS	-	-	TCC													gtcttcaaacccgttttcttINScctcctcctcctcctcactt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:69782977_69782978T>TTCC	uc002exs.3	-	5	585_586	c.569_570A>GGAA	c.(568-570)gaa>gGGAA	p.E190G		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	190	Poly-Glu.					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						ACCCGTTTTCTTCCTCCTCCTC	0.52													TCC	69782979	-	TCC	69782978	7	5	165	1	0	1	1	0	0	0	0	0	10511	1783	62	0	685	0	NOB1	16	69782978	In_Frame_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	1184620	69782978	20571775	1070	90223											
PDPR	55066	broad.mit.edu	37	chr16	70166194	70166194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatctacaggaagactggGatcactttggtatgtgaact	11	6	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:70166194G>A	uc002eyf.1	+	9	1945	c.988G>A	c.(988-990)GAT>AAT	p.D330N	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.D230N|PDPR_uc002eyg.1_Missense_Mutation_p.D58N	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	330					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGAAGACTGGGATCACTTTGG	0.398													A	70166194	G	A	70166194	3	1	165	1	0	0	0	0	1	0	0	0	11689	1174	41	4	1014	4	PDPR	16	70166194	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	383216	70166194	20188559	1071	90224											
WDR59	79726	broad.mit.edu	37	chr16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-													tggtggcaaggcagttagcaTtttttttattccatttgacc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:74976690_74976690AT>A	uc002fdh.1	-	6	582	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAGTTAGCATTTTTTTTAT	0.498													-	74976691	T	-	74976691	7	5	165	1	0	1	0	1	0	0	0	0	17305	1493	52	0	2525	0	WDR59	16	74976691	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	4810497	74976691	15378062	1072	90225											
PKD1L2	114780	broad.mit.edu	37	chr16	81242146	81242146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgccctgagtcggacacAggtttccaaagtaggtctca	10	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:81242146A>G	uc002fgh.1	-	4	710	c.710T>C	c.(709-711)CTG>CCG	p.L237P	PKD1L2_uc002fgj.2_Missense_Mutation_p.L237P	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	237	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGTCGGACACAGGTTTCCAAA	0.562													G	81242146	A	G	81242146	3	3	165	1	0	0	0	0	1	0	0	0	11965	188	7	3	6898	3	PKD1L2	16	81242146	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	6265455	81242146	9112607	1073	90226											
CDT1	81620	broad.mit.edu	37	chr16	88871856	88871856	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccctgacagtggcgagaAggcgcccgcctaccagcgct	12	17	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:88871856A>C	uc002flu.2	+	4	551	c.497A>C	c.(496-498)AAG>ACG	p.K166T		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	166	Interaction with GMNN.				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGTGGCGAGAAGGCGCCCGCC	0.687													C	88871856	A	C	88871856	3	2	165	1	0	0	0	0	1	0	0	0	3180	72	3	5	511	5	CDT1	16	88871856	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	7629710	88871856	1482897	1074	90227											
ANKRD11	29123	broad.mit.edu	37	chr16	89345552	89345552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaggtgacgtactcggcGtagcactggggcgcctgcgg	18	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:89345552G>A	uc002fmx.1	-	9	7859	c.7398C>T	c.(7396-7398)TAC>TAT	p.Y2466Y	ANKRD11_uc002fmy.1_Silent_p.Y2466Y|ANKRD11_uc002fnc.1_Silent_p.Y2466Y|ANKRD11_uc002fna.1_Silent_p.Y131Y|ANKRD11_uc002fnb.1_Silent_p.Y2423Y	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2466						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		CGTACTCGGCGTAGCACTGGG	0.627													A	89345552	G	A	89345552	2	1	165	1	0	0	0	0	0	0	0	1	639	1140	40	1		1	ANKRD11	16	89345552	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	473696	89345552	1009201	1075	90228											
SPG7	6687	broad.mit.edu	37	chr16	89592862	89592862	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttcctacaagcgaacAggattctttggaaagtatgt	9	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:89592862A>G	uc002fnj.2	+	5	765	c.744A>G	c.(742-744)ACA>ACG	p.T248T	SPG7_uc002fni.2_Silent_p.T248T	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	248	Mitochondrial intermembrane (Potential).				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				0		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)		ACAAGCGAACAGGATTCTTTG	0.393													G	89592862	A	G	89592862	2	3	165	1	0	0	0	0	0	0	0	1	15043	175	7	3		3	SPG7	16	89592862	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	247310	89592862	761891	1076	90229											
SPIRE2	84501	broad.mit.edu	37	chr16	89920972	89920972	+	Frame_Shift_Del	DEL	C	C	-													gtgcaagagcaggagttcaaCcccctccccaccgagttcca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr16:89920971_89920971AC>A	uc002foz.1	+	4	855	c.803_803AC>A	c.(802-804)aacfs	p.N268fs	SPIRE2_uc010civ.1_Frame_Shift_Del_p.N183fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.N268fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.N220fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.N137fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	268					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)		CAGGAGTTCAACCCCCTCCCC	0.637													-	89920972	C	-	89920972	7	5	165	1	0	1	0	1	0	0	0	0	15071	506	18	0	822	0	SPIRE2	16	89920972	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	328110	89920972	433781	1077	90230											
MYO1C	4641	broad.mit.edu	37	chr17	1371157	1371157	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttattgtccgcacgctGtacatgaagcacaaaaagac	8	10	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:1371157G>A	uc002fsp.2	-	29	3164	c.2944C>T	c.(2944-2946)CAG>TAG	p.Q982*	MYO1C_uc002fsn.2_Nonsense_Mutation_p.Q963*|MYO1C_uc002fso.2_Nonsense_Mutation_p.Q947*|MYO1C_uc010vqj.1_Nonsense_Mutation_p.Q947*	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	982					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				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGCACGCTGTACATGAAGC	0.428													A	1371157	G	A	1371157	4	1	165	1	0	0	0	0	0	1	0	0	10070	1386	48	4	263	4	MYO1C	17	1371157	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		1371157	79824053	1078	90231											
CAMKK1	84254	broad.mit.edu	37	chr17	3786411	3786411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtacacccgctccaggggCagcagctgcttggctggtcc	14	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:3786411C>T	uc002fwt.2	-	6	667	c.573G>A	c.(571-573)CTG>CTA	p.L191L	CAMKK1_uc002fwu.2_Silent_p.L191L|CAMKK1_uc002fwv.2_Silent_p.L191L	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	191	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GCTCCAGGGGCAGCAGCTGCT	0.617													T	3786411	C	T	3786411	2	4	165	1	0	0	0	0	0	0	0	1	2606	697	25	2		2	CAMKK1	17	3786411	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2415254	3786411	77408799	1079	90232											
ZZEF1	23140	broad.mit.edu	37	chr17	3936194	3936194	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaatggcagctgcttgatGcagtggtctgtgaaggtggc	17	6	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:3936194G>T	uc002fxe.2	-	41	6751	c.6687C>A	c.(6685-6687)TGC>TGA	p.C2229*	ZZEF1_uc002fxh.2_Nonsense_Mutation_p.C543*|ZZEF1_uc002fxi.2_Nonsense_Mutation_p.C464*	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2229							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCTGCTTGATGCAGTGGTCTG	0.597													T	3936194	G	T	3936194	4	4	165	1	0	0	0	0	0	1	0	0	18252	1311	46	5	2258	5	ZZEF1	17	3936194	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	149783	3936194	77259016	1080	90233											
ZZEF1	23140	broad.mit.edu	37	chr17	3974039	3974039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagcagcaaaggtggcGttcacagcttgatcaatagt	11	9	2	2	rs115914263	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:3974039G>A	uc002fxe.2	-	26	4078	c.4014C>T	c.(4012-4014)AAC>AAT	p.N1338N	ZZEF1_uc002fxj.1_Translation_Start_Site	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1338							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAAAGGTGGCGTTCACAGCTT	0.403													A	3974039	G	A	3974039	2	1	165	1	0	0	0	0	0	0	0	1	18252	1136	40	1		1	ZZEF1	17	3974039	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	37845	3974039	77221171	1081	90234											
ENO3	2027	broad.mit.edu	37	chr17	4856098	4856098	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtcccaggccgattcCgagcagctgtgcccagtggg	13	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:4856098C>T	uc002gab.3	+	3	188	c.94C>T	c.(94-96)CGA>TGA	p.R32*	ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Nonsense_Mutation_p.R32*|ENO3_uc010vss.1_Nonsense_Mutation_p.R32*|ENO3_uc010vst.1_5'Flank	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	32					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						AGGCCGATTCCGAGCAGCTGT	0.408													T	4856098	C	T	4856098	4	4	165	1	0	0	0	0	0	1	0	0	5123	644	23	1	100	1	ENO3	17	4856098	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	882059	4856098	76339112	1082	90235											
MIS12	79003	broad.mit.edu	37	chr17	5392616	5392616	+	Frame_Shift_Del	DEL	A	A	-													tcttgcagaattagaagagcAaaaaattgttcaggccaaac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:5392615_5392615CA>C	uc002gce.3	+	2	986	c.433_433CA>C	c.(433-435)caafs	p.Q145fs	MIS12_uc002gcd.3_Frame_Shift_Del_p.Q145fs|MIS12_uc021tom.1_Frame_Shift_Del_p.Q145fs	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA.	145					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ATTAGAAGAGCAAAAAATTGT	0.388													-	5392616	A	-	5392616	7	5	165	1	0	1	0	1	0	0	0	0	9594	130	5	0	436	0	MIS12	17	5392616	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	536518	5392616	75802594	1083	90236											
SLC13A5	284111	broad.mit.edu	37	chr17	6606329	6606329	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccacgttgggtcccgtccCggtcagggtggcggtgcccc	15	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:6606329C>G	uc002gdj.2	-	5	764	c.676G>C	c.(676-678)GGG>CGG	p.G226R	SLC13A5_uc010vtf.1_Missense_Mutation_p.G226R|SLC13A5_uc010clq.2_Missense_Mutation_p.G183R|SLC13A5_uc002gdk.2_Missense_Mutation_p.G209R|SLC13A5_uc002gdl.1_Missense_Mutation_p.G208R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	226	Helical; (Potential).					integral to membrane	citrate transmembrane transporter activity				0						GGTCCCGTCCCGGTCAGGGTG	0.642													G	6606329	C	G	6606329	3	3	165	1	0	0	0	0	1	0	0	0	14395	652	23	5	1062	5	SLC13A5	17	6606329	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1213713	6606329	74588881	1084	90237											
KDM6B	23135	broad.mit.edu	37	chr17	7752943	7752943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatcaaggtagagagtGgtgacaaggagacctttatc	13	7	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:7752943G>A	uc002giw.1	+	11	3713	c.3337G>A	c.(3337-3339)GGT>AGT	p.G1113S	KDM6B_uc002gix.2_Missense_Mutation_p.G415S	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1113					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)|pancreas(1)	2						GGTAGAGAGTGGTGACAAGGA	0.632													A	7752943	G	A	7752943	3	1	165	1	0	0	0	0	1	0	0	0	8138	1348	47	4	3367	4	KDM6B	17	7752943	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1146614	7752943	73442267	1085	90238											
CHD3	1107	broad.mit.edu	37	chr17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-													atggaaatccagatgtcccaCccccccgtcctcttcaaggc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	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)				CAGATGTCCCACCCCCCCGTC	0.577													-	7798765	C	-	7798765	7	5	165	1	0	1	0	1	0	0	0	0	3326	507	18	0	1931	0	CHD3	17	7798765	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	45822	7798765	73396445	1086	90239											
PFAS	5198	broad.mit.edu	37	chr17	8167585	8167585	+	Frame_Shift_Del	DEL	C	C	-													aagaaatggccagggggatgCccccccgacacccctgccaa					rs138697840	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:8167584_8167584GC>G	uc002gkr.3	+	15	1987	c.1846_1846GC>G	c.(1846-1848)gccfs	p.A616fs	PFAS_uc010vuv.2_Frame_Shift_Del_p.A192fs|PFAS_uc010cnw.1_Frame_Shift_Del_p.A116fs|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	616					'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)	CCAGGGGGATGCCCCCCCGAC	0.592													-	8167585	C	-	8167585	7	5	165	1	0	1	0	1	0	0	0	0	11754	739	26	0	1905	0	PFAS	17	8167585	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	368820	8167585	73027625	1087	90240											
USP43	124739	broad.mit.edu	37	chr17	9631908	9631908	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctctgagctagacagaccCctgcaggggacactcaccct	9	16	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:9631908C>A	uc010cod.2	+	15	2973	c.2973C>A	c.(2971-2973)CCC>CCA	p.P991P	USP43_uc002gma.3_Silent_p.P680P|USP43_uc010vva.1_Silent_p.P986P|USP43_uc010coe.2_Silent_p.P788P|USP43_uc002gmc.3_Silent_p.P503P	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	991					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TAGACAGACCCCTGCAGGGGA	0.587													A	9631908	C	A	9631908	2	1	165	1	0	0	0	0	0	0	0	1	17071	610	22	5		5	USP43	17	9631908	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1464323	9631908	71563302	1088	90241											
MYH8	4626	broad.mit.edu	37	chr17	10315825	10315825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttggccagagcacccacCgcattgtacaccttcacaga	8	15	1	2	rs113680036	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:10315825C>T	uc002gmm.2	-	14	1373	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	426	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			skin(6)|ovary(3)|breast(2)	11						GAGCACCCACCGCATTGTACA	0.493									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10315825	C	T	10315825	2	4	165	1	0	0	0	0	0	0	0	1	10041	639	23	1		1	MYH8	17	10315825	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	683917	10315825	70879385	1089	90242											
DNAH9	1770	broad.mit.edu	37	chr17	11757384	11757384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagcaatgtcagcgctgCggtgatggtactgatggctc	14	10	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:11757384C>T	uc002gne.2	+	50	9640	c.9572C>T	c.(9571-9573)GCG>GTG	p.A3191V	DNAH9_uc010coo.2_Missense_Mutation_p.A2485V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3191	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		GTCAGCGCTGCGGTGATGGTA	0.582													T	11757384	C	T	11757384	3	4	165	1	0	0	0	0	1	0	0	0	4608	768	27	1	9770	1	DNAH9	17	11757384	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1441559	11757384	69437826	1090	90243											
FLCN	201163	broad.mit.edu	37	chr17	17117130	17117130	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgtgtcctctttgggtcGactgtccaccttggtgaact	11	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:17117130G>A	uc002gra.3	-	14	2083	c.1579C>T	c.(1579-1581)CGA>TGA	p.R527*	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	527					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						TCTTTGGGTCGACTGTCCACC	0.512									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				A	17117130	G	A	17117130	4	1	165	1	0	0	0	0	0	1	0	0	5921	1066	37	1	164	1	FLCN	17	17117130	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5359746	17117130	64078080	1091	90244											
SREBF1	6720	broad.mit.edu	37	chr17	17720700	17720700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggcagaggaagacgagCgtgcacagggccaggcggga	19	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:17720700C>T	uc002gru.1	-	8	1670	c.1476G>A	c.(1474-1476)ACG>ACA	p.T492T	SREBF1_uc002grp.1_Silent_p.T111T|SREBF1_uc002grq.1_Silent_p.T11T|SREBF1_uc002grr.1_Silent_p.T238T|SREBF1_uc002grs.1_Silent_p.T468T|SREBF1_uc002grt.1_Silent_p.T522T	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	492	Helical; (Potential).|Interaction with LMNA (By similarity).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGAAGACGAGCGTGCACAGGG	0.692													T	17720700	C	T	17720700	2	4	165	1	0	0	0	0	0	0	0	1	15140	755	27	1		1	SREBF1	17	17720700	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	603570	17720700	63474510	1092	90245											
TOM1L2	146691	broad.mit.edu	37	chr17	17766052	17766052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccacatacgtcttgcGctgctcagccaaggagtttc	11	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:17766052G>A	uc002grz.3	-	11	1352	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C	TOM1L2_uc002gry.3_Missense_Mutation_p.R349C|TOM1L2_uc010vwy.1_Missense_Mutation_p.R346C|TOM1L2_uc010cpr.2_Missense_Mutation_p.R354C|TOM1L2_uc010vwz.1_Missense_Mutation_p.R251C|TOM1L2_uc010vxa.1_Missense_Mutation_p.R301C|TOM1L2_uc002grv.3_Missense_Mutation_p.R132C	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	399					intracellular protein transport	intracellular					0	all_neural(463;0.228)					TACGTCTTGCGCTGCTCAGCC	0.527													A	17766052	G	A	17766052	3	1	165	1	0	0	0	0	1	0	0	0	16350	1087	38	1	348	1	TOM1L2	17	17766052	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	45352	17766052	63429158	1093	90246											
MYO15A	51168	broad.mit.edu	37	chr17	18023410	18023410	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccacgccatggatgacatCgccgagctggaggaaccaga	13	13	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:18023410C>T	uc010vxh.1	+	2	1634	c.1296C>T	c.(1294-1296)ATC>ATT	p.I432I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	432	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGGATGACATCGCCGAGCTGG	0.642													T	18023410	C	T	18023410	2	4	165	1	0	0	0	0	0	0	0	1	10063	874	31	1		1	MYO15A	17	18023410	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	257358	18023410	63171800	1094	90247											
MYO15A	51168	broad.mit.edu	37	chr17	18039027	18039027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtattttgcatagacGgatgcacaggaggtggcctc	14	7	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:18039027G>A	uc010vxh.1	+	12	4823	c.4485G>A	c.(4483-4485)ACG>ACA	p.T1495T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1495	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TTGCATAGACGGATGCACAGG	0.438													A	18039027	G	A	18039027	2	1	165	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18039027	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	15617	18039027	63156183	1095	90248											
LLGL1	3996	broad.mit.edu	37	chr17	18140176	18140176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcgatccctacagtgacGatccccggcttggcgtgcag	12	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:18140176G>A	uc002gsp.2	+	13	1595	c.1534G>A	c.(1534-1536)GAT>AAT	p.D512N		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	512					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CTACAGTGACGATCCCCGGCT	0.632													A	18140176	G	A	18140176	3	1	165	1	0	0	0	0	1	0	0	0	8833	1058	37	1	1584	1	LLGL1	17	18140176	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	101149	18140176	63055034	1096	90249											
MAP2K3	5606	broad.mit.edu	37	chr17	21215543	21215543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagccgtccccccaGctcccagccgaccgtttctc	11	18	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:21215543G>A	uc002gys.2	+	10	1129	c.864G>A	c.(862-864)CAG>CAA	p.Q288Q	MAP2K3_uc002gyt.2_Silent_p.Q259Q|MAP2K3_uc002gyu.2_Silent_p.Q259Q	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	288	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGTCCCCCCAGCTCCCAGCCG	0.652													A	21215543	G	A	21215543	2	1	165	1	0	0	0	0	0	0	0	1	9238	962	34	2		2	MAP2K3	17	21215543	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3075367	21215543	59979667	1097	90250											
NOS2	4843	broad.mit.edu	37	chr17	26116642	26116642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgacctttcccgtctcCacgaggggctgcggggactc	12	15	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:26116642C>T	uc002gzu.2	-	3	447	c.183G>A	c.(181-183)GTG>GTA	p.V61V	NOS2_uc010crh.1_Silent_p.V61V|NOS2_uc010wab.1_Silent_p.V61V	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	61					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			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTCCCGTCTCCACGAGGGGCT	0.557													T	26116642	C	T	26116642	2	4	165	1	0	0	0	0	0	0	0	1	10543	581	21	4		4	NOS2	17	26116642	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4901099	26116642	55078568	1098	90251											
CRYBA1	1411	broad.mit.edu	37	chr17	27580761	27580761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaagccatgggctggtTcaacaacgaagtcggctcca	11	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:27580761T>C	uc002hdw.2	+	5	468	c.461T>C	c.(460-462)TTC>TCC	p.F154S		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	154	Beta/gamma crystallin 'Greek key' 3.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATGGGCTGGTTCAACAACGAA	0.453													C	27580761	T	C	27580761	3	2	165	1	0	0	0	0	1	0	0	0	3907	1783	62	3	479	3	CRYBA1	17	27580761	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1464119	27580761	53614449	1099	90252											
ANKRD13B	124930	broad.mit.edu	37	chr17	27936411	27936411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggcgcagtgaaaagaCggagatggtgaatgggtatg	19	4	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:27936411C>T	uc002hei.2	+	7	907	c.794C>T	c.(793-795)ACG>ATG	p.T265M	ANKRD13B_uc002heh.2_Missense_Mutation_p.T133M|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	265											0						AGTGAAAAGACGGAGATGGTG	0.602													T	27936411	C	T	27936411	3	4	165	1	0	0	0	0	1	0	0	0	642	536	19	1	820	1	ANKRD13B	17	27936411	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	355650	27936411	53258799	1100	90253											
ATAD5	79915	broad.mit.edu	37	chr17	29161234	29161234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacaaaatatttatcaccActagggaagactagagacag	7	7	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:29161234A>G	uc002hfs.1	+	2	481	c.135A>G	c.(133-135)CCA>CCG	p.P45P	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	45					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATTTATCACCACTAGGGAAGA	0.353													G	29161234	A	G	29161234	2	3	165	1	0	0	0	0	0	0	0	1	1076	146	6	3		3	ATAD5	17	29161234	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1224823	29161234	52033976	1101	90254											
ATAD5	79915	broad.mit.edu	37	chr17	29196630	29196630	+	Frame_Shift_Del	DEL	T	T	-													gtaaactcacaaaaaccctgTttttttaatagctactacat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:29196629_29196629GT>G	uc002hfs.1	+	13	3915	c.3572_3572GT>G	c.(3571-3573)tgtfs	p.C1191fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.C1088fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1191					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)				CAAAAACCCTGTTTTTTTAAT	0.353													-	29196630	T	-	29196630	7	5	165	1	0	1	0	1	0	0	0	0	1076	1731	60	0	3627	0	ATAD5	17	29196630	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	35396	29196630	51998580	1102	90255											
ADAP2	55803	broad.mit.edu	37	chr17	29281495	29281495	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagttccctcttttgcaGcagaaagaacctttcaagaa	7	9	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:29281495G>A	uc002hfx.2	+	9	1084	c.805_splice	c.e9-1	p.Q269_splice	ADAP2_uc010csk.2_Splice_Site_p.Q275_splice|ADAP2_uc002hfy.2_Intron|ADAP2_uc010csl.2_Splice_Site	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein						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)		ovary(1)	1						CTCTTTTGCAGCAGAAAGAAC	0.537													A	29281495	G	A	29281495	5	1	165	1	0	0	0	0	0	0	1	0	280	985	34	2	838	2	ADAP2	17	29281495	Splice_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	84865	29281495	51913715	1103	90256											
RHOT1	55288	broad.mit.edu	37	chr17	30500897	30500898	+	Frame_Shift_Del	DEL	AG	AG	-													attccagctgatgtcaccccAgagagagttccaacacacat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:30500896_30500897CAG>C	uc002hgw.3	+	2	382_383	c.143_144CAG>C	c.(142-144)ccafs	p.P48fs	RHOT1_uc002hgy.3_Frame_Shift_Del_p.P48fs|RHOT1_uc002hgz.3_Frame_Shift_Del_p.P48fs|RHOT1_uc002hha.3_5'UTR|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_5'UTR|RHOT1_uc010wby.2_Frame_Shift_Del_p.P48fs|RHOT1_uc002hhb.3_Frame_Shift_Del_p.P27fs|RHOT1_uc002hgv.3_Frame_Shift_Del_p.P48fs	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	48	Miro 1.				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	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GATGTCACCCCAGAGAGAGTTC	0.356													-	30500898	AG	-	30500897	7	5	165	1	0	1	0	1	0	0	0	0	13343	175	7	0	154	0	RHOT1	17	30500897	Frame_Shift_Del	DEL	AG	TCGA-CG-4305-01A-01D-1158-08	1219402	30500897	50694313	1104	90257											
PSMD11	5717	broad.mit.edu	37	chr17	30796051	30796051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggagttgaaaaagatggaCgacaaagctcttttggtgga	14	5	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:30796051C>T	uc010cta.1	+	6	523	c.483C>T	c.(481-483)GAC>GAT	p.D161D	PSMD11_uc010wbz.1_Silent_p.D161D|PSMD11_uc002hhm.2_Silent_p.D161D	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	161					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			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AAAAGATGGACGACAAAGCTC	0.448													T	30796051	C	T	30796051	2	4	165	1	0	0	0	0	0	0	0	1	12694	535	19	1		1	PSMD11	17	30796051	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	295154	30796051	50399159	1105	90258											
CCL7	6354	broad.mit.edu	37	chr17	32597332	32597332	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcctctgcagcacttcTgtgtctgctgctcacagcag	10	13	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:32597332T>G	uc002hhz.2	+	1	93	c.23T>G	c.(22-24)CTG>CGG	p.L8R	CCL7_uc010ctf.2_RNA	NM_006273	NP_006264	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7 precursor	8					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			ovary(1)	1	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCAGCACTTCTGTGTCTGCTG	0.572													G	32597332	T	G	32597332	3	3	165	1	0	0	0	0	1	0	0	0	2906	1580	55	5	25	5	CCL7	17	32597332	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	1801281	32597332	48597878	1106	90259											
LIG3	3980	broad.mit.edu	37	chr17	33316509	33316509	+	Frame_Shift_Del	DEL	C	C	-													gcccaacaactctggggaagCcccctcgagccccaccccta							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:33316508_33316508GC>G	uc002hik.2	+	3	844	c.715_715GC>G	c.(715-717)gccfs	p.A239fs	LIG3_uc002hii.3_Frame_Shift_Del_p.A239fs|LIG3_uc002hij.3_Frame_Shift_Del_p.A239fs|LIG3_uc010cth.1_Frame_Shift_Del_p.A248fs	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	239					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|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)	CTCTGGGGAAGCCCCCTCGAG	0.488								Other BER factors					-	33316509	C	-	33316509	7	5	165	1	0	1	0	1	0	0	0	0	8782	739	26	0	726	0	LIG3	17	33316509	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	719177	33316509	47878701	1107	90260											
SLFN12	55106	broad.mit.edu	37	chr17	33749721	33749721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggtgttcaagctccaTgacttcacaaaaatcagaaa	7	10	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:33749721T>C	uc002hji.3	-	2	704	c.327A>G	c.(325-327)TCA>TCG	p.S109S	SLFN12_uc002hjj.3_Silent_p.S109S|SLFN12_uc010cts.2_Silent_p.S109S	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	109							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAAGCTCCATGACTTCACAA	0.383													C	33749721	T	C	33749721	2	2	165	1	0	0	0	0	0	0	0	1	14734	1451	51	3		3	SLFN12	17	33749721	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	433212	33749721	47445489	1108	90261											
MMP28	79148	broad.mit.edu	37	chr17	34106027	34106027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgagtcatctggcgcagggTggcgcggtccaacacgccgc	15	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34106027T>C	uc002hjy.1	-	3	503	c.244A>G	c.(244-246)ACC>GCC	p.T82A	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.T82A	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	82					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGGCGCAGGGTGGCGCGGTCC	0.607													C	34106027	T	C	34106027	3	2	165	1	0	0	0	0	1	0	0	0	9665	1696	59	3	1355	3	MMP28	17	34106027	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	356306	34106027	47089183	1109	90262											
C17orf66	256957	broad.mit.edu	37	chr17	34192249	34192249	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctcattttcctcaacatcTtctcagcctccctttcctct	1	18	5	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34192249T>A	uc002hke.1	-	3	439	c.290A>T	c.(289-291)AAG>ATG	p.K97M	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.K97M|C17orf66_uc010wcm.1_Missense_Mutation_p.K63M	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	97							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTCAACATCTTCTCAGCCTC	0.488													A	34192249	T	A	34192249	3	1	165	1	0	0	0	0	1	0	0	0	1874	1609	56	5	1474	5	C17orf66	17	34192249	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	86222	34192249	47002961	1110	90263											
MYO19	80179	broad.mit.edu	37	chr17	34856703	34856703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacggcccgccactgccGctcctgctctcggtgccggt	12	18	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34856703G>A	uc010wcy.1	-	24	3336	c.2344C>T	c.(2344-2346)CGG>TGG	p.R782W	MYO19_uc002hmw.2_Missense_Mutation_p.R582W|MYO19_uc010cuu.2_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	782						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGCCACTGCCGCTCCTGCTCT	0.642													A	34856703	G	A	34856703	3	1	165	1	0	0	0	0	1	0	0	0	10067	1086	38	1	584	1	MYO19	17	34856703	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	664454	34856703	46338507	1111	90264											
GGNBP2	79893	broad.mit.edu	37	chr17	34913105	34913105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctaacagtagggcccaaGggagtcctgtctgtaactag	11	12	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:34913105G>T	uc002hnb.2	+	4	606	c.357G>T	c.(355-357)AAG>AAT	p.K119N	GGNBP2_uc002hna.2_Missense_Mutation_p.K119N	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	119					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAGGGCCCAAGGGAGTCCTGT	0.443													T	34913105	G	T	34913105	3	4	165	1	0	0	0	0	1	0	0	0	6359	991	35	5	367	5	GGNBP2	17	34913105	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	56402	34913105	46282105	1112	90265											
RARA	5914	broad.mit.edu	37	chr17	38510653	38510653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcacaacgctggcttcGgccccctcaccgacctggtc	10	17	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:38510653G>A	uc002huk.1	+	7	1362	c.907G>A	c.(907-909)GGC>AGC	p.G303S	RARA_uc002hul.3_Missense_Mutation_p.G303S|RARA_uc010wfe.1_Missense_Mutation_p.G206S|RARA_uc002hun.1_Missense_Mutation_p.G298S	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	303	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			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGCTGGCTTCGGCCCCCTCAC	0.647			T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								A	38510653	G	A	38510653	3	1	165	1	0	0	0	0	1	0	0	0	13052	1116	39	1	1096	1	RARA	17	38510653	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3597548	38510653	42684557	1113	90266											
TOP2A	7153	broad.mit.edu	37	chr17	38562931	38562931	+	Frame_Shift_Del	DEL	T	T	-													aaaatgccatttcttgcttgTttttagatacctgtgataaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:38562930_38562930GT>G	uc002huq.3	-	14	1908	c.1749_1749AC>C	c.(1747-1749)aacfs	p.N583fs	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	583					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|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	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|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)	TTTCTTGCTTGTTTTTAGATA	0.378													-	38562931	T	-	38562931	7	5	165	1	0	1	0	1	0	0	0	0	16362	1725	60	0	2931	0	TOP2A	17	38562931	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	52278	38562931	42632279	1114	90267											
KRT222	125113	broad.mit.edu	37	chr17	38818172	38818172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggatcattctcaccacaGcatggagagattcaatttcc	8	10	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:38818172G>A	uc002hvc.2	-	2	286	c.221C>T	c.(220-222)GCT>GTT	p.A74V	KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.A34V|KRT222_uc010cxc.2_Missense_Mutation_p.A34V	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	74	Potential.					intermediate filament	structural molecule activity			central_nervous_system(1)|skin(1)	2						TCTCACCACAGCATGGAGAGA	0.458													A	38818172	G	A	38818172	3	1	165	1	0	0	0	0	1	0	0	0	8459	971	34	2	686	2	KRT222	17	38818172	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	255241	38818172	42377038	1115	90268											
KRT15	3866	broad.mit.edu	37	chr17	39674981	39674981	+	Frame_Shift_Del	DEL	C	C	-													ccacctcccccagagagactCcccccaccaaagccacctcc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:39674980_39674980TC>T	uc002hwy.3	-	0	291	c.100_100GA>A	c.(100-102)agtfs	p.S34fs	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	34	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCAGAGAGACTCCCCCCACCA	0.587													-	39674981	C	-	39674981	7	5	165	1	0	1	0	1	0	0	0	0	8452	842	30	0	1303	0	KRT15	17	39674981	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	856809	39674981	41520229	1116	90269											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825491	40825491	+	Frame_Shift_Del	DEL	C	C	-													gatcacttcccgcaatgccaCcccccagcgctcagcctctg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:40825490_40825490AC>A	uc002iau.2	-	4	1042	c.575_575GT>T	c.(574-576)gtgfs	p.V192fs	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Frame_Shift_Del_p.V192fs	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	192	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)		CCGCAATGCCACCCCCCAGCG	0.627													-	40825491	C	-	40825491	7	5	165	1	0	1	0	1	0	0	0	0	12078	507	18	0	1843	0	PLEKHH3	17	40825491	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	1150510	40825491	40369719	1117	90270											
HDAC5	10014	broad.mit.edu	37	chr17	42157801	42157801	+	Frame_Shift_Del	DEL	G	G	-													aggtactccacgtctccaatGggggggtccacacctcctgt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42157800_42157800TG>T	uc002iff.1	-	21	3129	c.2797_2797CA>A	c.(2797-2799)attfs	p.I933fs	HDAC5_uc002ifd.1_Frame_Shift_Del_p.I932fs|HDAC5_uc002ife.1_Frame_Shift_Del_p.I932fs|HDAC5_uc010czp.1_Frame_Shift_Del_p.I847fs	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	932	Histone deacetylase.				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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-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)		ACGTCTCCAATGGGGGGGTCC	0.607													-	42157801	G	-	42157801	7	5	165	1	0	1	0	1	0	0	0	0	7010	1335	47	0	599	0	HDAC5	17	42157801	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	1332310	42157801	39037409	1118	90271											
HDAC5	10014	broad.mit.edu	37	chr17	42162480	42162480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcacgtgtgtgttcccGcacatgcactggtgctttag	14	10	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42162480G>A	uc002ifd.1	-	15	2305	c.2094C>T	c.(2092-2094)TGC>TGT	p.C698C	HDAC5_uc002ife.1_Silent_p.C698C|HDAC5_uc002iff.1_Silent_p.C699C|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Silent_p.C8C|HDAC5_uc002ifh.2_Silent_p.C698C	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	698	Histone deacetylase.				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			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GTGTGTTCCCGCACATGCACT	0.612													A	42162480	G	A	42162480	2	1	165	1	0	0	0	0	0	0	0	1	7010	1079	38	1		1	HDAC5	17	42162480	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	4679	42162480	39032730	1119	90272											
GRN	2896	broad.mit.edu	37	chr17	42426635	42426635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgctgcctggaccccGgaggagccagctacagctgc	14	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42426635G>A	uc002igp.1	+	2	322	c.103G>A	c.(103-105)GGA>AGA	p.G35R	GRN_uc002igq.1_Missense_Mutation_p.G35R|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	35					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGGACCCCGGAGGAGCCAG	0.637													A	42426635	G	A	42426635	3	1	165	1	0	0	0	0	1	0	0	0	6804	1117	39	1	105	1	GRN	17	42426635	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	264155	42426635	38768575	1120	90273											
GJC1	10052	broad.mit.edu	37	chr17	42882090	42882091	+	Frame_Shift_Ins	INS	-	-	G													actttggccttcttctcccgINSgggaccatgagggttgtttt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:42882089_42882090C>CG	uc002ihj.3	-	1	1607_1608	c.1096_1097G>CG	c.(1096-1098)cggfs	p.R366fs	GJC1_uc002ihk.3_Frame_Shift_Ins_p.R366fs|GJC1_uc002ihl.3_Frame_Shift_Ins_p.R366fs|GJC1_uc021tyf.1_Frame_Shift_Ins_p.R366fs	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	366					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.P365>?(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTTCTTCTCCCGGGGACCATGA	0.559													G	42882091	-	G	42882090	7	5	165	1	0	1	1	0	0	0	0	0	6414	1115	39	0	98	0	GJC1	17	42882090	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	455455	42882090	38313120	1121	90274											
PLEKHM1	9842	broad.mit.edu	37	chr17	43522885	43522885	+	Frame_Shift_Del	DEL	C	C	-													ccggcacaggcccaggtaatCccccaggagcttcagctgct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:43522884_43522884TC>T	uc002ija.3	-	8	2959	c.2789_2789GA>A	c.(2788-2790)gatfs	p.D930fs	PLEKHM1_uc010wjm.2_Frame_Shift_Del_p.D902fs|PLEKHM1_uc002ijb.3_Frame_Shift_Del_p.D405fs|PLEKHM1_uc010wjn.1_Frame_Shift_Del_p.D879fs	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	930					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)					GCCCAGGTAATCCCCCAGGAG	0.597													-	43522885	C	-	43522885	7	5	165	1	0	1	0	1	0	0	0	0	12080	855	30	0	398	0	PLEKHM1	17	43522885	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	640795	43522885	37672325	1122	90275											
KIAA1267	284058	broad.mit.edu	37	chr17	44249126	44249126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaaactccaaaactggCtgtctccccaacagctcagc	7	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:44249126C>T	uc002ikb.2	-	1	469	c.384G>A	c.(382-384)CAG>CAA	p.Q128Q	KIAA1267_uc002ikc.2_Silent_p.Q128Q|KIAA1267_uc002ikd.2_Silent_p.Q128Q|KIAA1267_uc010dav.2_Silent_p.Q128Q	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	128						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				CCAAAACTGGCTGTCTCCCCA	0.453													T	44249126	C	T	44249126	2	4	165	1	0	0	0	0	0	0	0	1	8219	796	28	2		2	KIAA1267	17	44249126	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	726241	44249126	36946084	1123	90276											
OSBPL7	114881	broad.mit.edu	37	chr17	45886343	45886344	+	Frame_Shift_Ins	INS	-	-	G													cgaagtttcgctcatggtcgINSgggggcattgagtctggggg					rs143462261		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:45886342_45886343C>CG	uc002ilx.1	-	20	2387_2388	c.2184_2185G>CG	c.(2182-2187)cccgacfs	p.P728fs	OSBPL7_uc002ilw.1_Frame_Shift_Ins_p.P290fs	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	728					lipid transport		lipid binding	p.D729fs*3(2)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619													G	45886344	-	G	45886343	7	5	165	1	0	1	1	0	0	0	0	0	11282	1103	39	0	356	0	OSBPL7	17	45886343	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	1637217	45886343	35308867	1124	90277											
HEATR6	63897	broad.mit.edu	37	chr17	58132907	58132907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctctgatcaggtgctGcagtggagtctggtttatac	13	8	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:58132907G>A	uc002iyk.1	-	14	2275	c.2258C>T	c.(2257-2259)GCA>GTA	p.A753V	HEATR6_uc010ddk.1_Missense_Mutation_p.A292V|HEATR6_uc010wos.1_Intron	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	753				A -> T (in Ref. 5; AAL83912).			binding			ovary(1)|skin(1)	2	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)			ATCAGGTGCTGCAGTGGAGTC	0.393													A	58132907	G	A	58132907	3	1	165	1	0	0	0	0	1	0	0	0	7033	1319	46	2	1315	2	HEATR6	17	58132907	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	12246564	58132907	23062303	1125	90278											
TLK2	11011	broad.mit.edu	37	chr17	60598172	60598172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaaccagagcttgtgCagcgtcggatccttgagtga	11	11	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:60598172C>T	uc010ddp.2	+	3	388	c.120C>T	c.(118-120)TGC>TGT	p.C40C	TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Silent_p.C40C|TLK2_uc002jaa.3_Silent_p.C40C|TLK2_uc010wpd.1_Silent_p.C40C	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	40					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			stomach(1)|kidney(1)	2						AGAGCTTGTGCAGCGTCGGAT	0.323													T	60598172	C	T	60598172	2	4	165	1	0	0	0	0	0	0	0	1	15941	718	25	2		2	TLK2	17	60598172	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2465265	60598172	20597038	1126	90279											
FTSJ3	117246	broad.mit.edu	37	chr17	61902414	61902416	+	In_Frame_Del	DEL	CTT	CTT	-													tccccaaaacacacctttggCttcttcttagtaaccaattc							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:61902413_61902415GCTT>G	uc002jbz.3	-	6	782_784	c.704_706AAGC>C	c.(703-708)aagcca>aCca	p.235_236KP>T	FTSJ3_uc002jca.3_In_Frame_Del_p.235_236KP>T|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	235					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						CACACCTTTGGCTTCTTCTTAGT	0.493													-	61902416	CTT	-	61902414	7	5	165	1	0	1	0	1	0	0	0	0	6089	796	28	0	1894	0	FTSJ3	17	61902414	In_Frame_Del	DEL	CTT	TCGA-CG-4305-01A-01D-1158-08	1304242	61902414	19292796	1127	90280											
AXIN2	8313	broad.mit.edu	37	chr17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-													tgcgggggtgcccgctgttgCccccccacagatggtgccgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:63532584_63532584GC>G	uc002jfi.3	-	7	2284	c.1995_1995GC>C	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACA	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				-	63532585	C	-	63532585	7	5	165	1	0	1	0	1	0	0	0	0	1237	739	26	0	553	0	AXIN2	17	63532585	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	1630171	63532585	17662625	1128	90281											
AMZ2	51321	broad.mit.edu	37	chr17	66246991	66246991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atattaaatggctcacgggcTactgtaaagcatatttctat	7	7	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:66246991T>G	uc002jgs.1	+	4	457	c.340T>G	c.(340-342)TAC>GAC	p.Y114D	AMZ2_uc002jgr.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgt.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgu.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgv.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.Y114D	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1	114							metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTCACGGGCTACTGTAAAGC	0.353													G	66246991	T	G	66246991	3	3	165	1	0	0	0	0	1	0	0	0	597	1522	53	5	346	5	AMZ2	17	66246991	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2714406	66246991	14948219	1129	90282											
SOX9	6662	broad.mit.edu	37	chr17	70120097	70120097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagccgcaggcggcgcccCcacagcagccggcggcaccc	14	21	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:70120097C>A	uc002jiw.2	+	3	1471	c.1099C>A	c.(1099-1101)CCA>ACA	p.P367T		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	367	Gln/Pro-rich.				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				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ggcggcgcccccacagcagcc	0.269													A	70120097	C	A	70120097	3	1	165	1	0	0	0	0	1	0	0	0	14958	623	22	5	1109	5	SOX9	17	70120097	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3873106	70120097	11075113	1130	90283											
SLC39A11	201266	broad.mit.edu	37	chr17	70645098	70645098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccgctcagctgcccaTacctaaggagagaacagaga	10	13	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:70645098T>C	uc002jjb.2	-	9	909	c.794A>G	c.(793-795)TAT>TGT	p.Y265C	SLC39A11_uc002jja.2_Missense_Mutation_p.Y258C	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	265	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						CAGCTGCCCATACCTAAGGAG	0.612													C	70645098	T	C	70645098	3	2	165	1	0	0	0	0	1	0	0	0	14614	1406	49	3	242	3	SLC39A11	17	70645098	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	525001	70645098	10550112	1131	90284											
C17orf80	55028	broad.mit.edu	37	chr17	71238436	71238436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtttggaaccccctgccGgacttacaacctccaacttc	8	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:71238436G>A	uc002jjm.3	+	4	1761	c.1567G>A	c.(1567-1569)GGA>AGA	p.G523R	C17orf80_uc010wqu.1_Intron|C17orf80_uc010dfj.2_Intron|C17orf80_uc002jjk.1_Missense_Mutation_p.G523R|C17orf80_uc002jjl.3_Intron	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	523	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			ACCCCCTGCCGGACTTACAAC	0.463													A	71238436	G	A	71238436	3	1	165	1	0	0	0	0	1	0	0	0	1885	1117	39	1	1573	1	C17orf80	17	71238436	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	593338	71238436	9956774	1132	90285											
GRIN2C	2905	broad.mit.edu	37	chr17	72846719	72846719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtggttgctctgcctgCggcagggcacggtgttgggg	20	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:72846719C>T	uc002jlt.1	-	5	1457	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R434H|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	434	Extracellular (Potential).				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			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GCTCTGCCTGCGGCAGGGCAC	0.647													T	72846719	C	T	72846719	3	4	165	1	0	0	0	0	1	0	0	0	6781	768	27	1	2436	1	GRIN2C	17	72846719	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1608283	72846719	8348491	1133	90286											
C17orf28	283987	broad.mit.edu	37	chr17	72956269	72956269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagagcaggtggttgTaggggatcccgtagcccaca	15	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:72956269T>C	uc002jmj.3	-	7	952	c.803A>G	c.(802-804)TAC>TGC	p.Y268C	C17orf28_uc010wrs.1_Missense_Mutation_p.Y67C|C17orf28_uc002jmk.2_Missense_Mutation_p.Y267C	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	268						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					CAGGTGGTTGTAGGGGATCCC	0.617													C	72956269	T	C	72956269	3	2	165	1	0	0	0	0	1	0	0	0	1853	1638	57	3	1615	3	C17orf28	17	72956269	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	109550	72956269	8238941	1134	90287											
NUP85	79902	broad.mit.edu	37	chr17	73231232	73231232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacttatgagttgatgcGgtgtctggaggacttgacgt	14	6	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73231232G>A	uc002jng.1	+	18	2065	c.1805G>A	c.(1804-1806)CGG>CAG	p.R602Q	NUP85_uc010dgd.1_Missense_Mutation_p.R557Q|NUP85_uc010wrv.1_Missense_Mutation_p.R556Q|NUP85_uc002jnh.1_Missense_Mutation_p.R205Q	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	602					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			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GAGTTGATGCGGTGTCTGGAG	0.532													A	73231232	G	A	73231232	3	1	165	1	0	0	0	0	1	0	0	0	10770	1116	39	1	1875	1	NUP85	17	73231232	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	274963	73231232	7963978	1135	90288											
MIF4GD	57409	broad.mit.edu	37	chr17	73263620	73263620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggctggggccacccaccTcctcctccttgctcaaactg	9	18	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73263620T>A	uc002jnr.2	-	5	569	c.440A>T	c.(439-441)GAG>GTG	p.E147V	MIF4GD_uc002jno.2_Missense_Mutation_p.E188V|MIF4GD_uc002jnp.2_Missense_Mutation_p.E181V|MIF4GD_uc002jnq.2_Missense_Mutation_p.E188V			A9UHW6	MI4GD_HUMAN	RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;	147	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			ovary(1)	1	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)			GCCACCCACCTCCTCCTCCTT	0.612													A	73263620	T	A	73263620	3	1	165	1	0	0	0	0	1	0	0	0	9584	1565	54	5	236	5	MIF4GD	17	73263620	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	32388	73263620	7931590	1136	90289											
LLGL2	3993	broad.mit.edu	37	chr17	73560538	73560538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagacggccttcgacttcaCctcccgtgtcatcggcttca	9	16	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73560538C>A	uc002joh.2	+	10	1140	c.986C>A	c.(985-987)ACC>AAC	p.T329N	LLGL2_uc002jog.1_Missense_Mutation_p.T329N|LLGL2_uc010dgf.1_Missense_Mutation_p.T329N|LLGL2_uc002joi.2_Missense_Mutation_p.T329N|LLGL2_uc010dgg.1_Missense_Mutation_p.T329N|LLGL2_uc002joj.2_Missense_Mutation_p.T318N|LLGL2_uc010wsd.1_Missense_Mutation_p.P10T|uc002jok.2_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	329					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	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)			TTCGACTTCACCTCCCGTGTC	0.632													A	73560538	C	A	73560538	3	1	165	1	0	0	0	0	1	0	0	0	8834	507	18	5	1020	5	LLGL2	17	73560538	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	296918	73560538	7634672	1137	90290											
FBF1	85302	broad.mit.edu	37	chr17	73917331	73917331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacacccctacctggacGggcacggaaggctctgtggg	14	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:73917331G>A	uc002jqc.2	-	16	1897	c.1623C>T	c.(1621-1623)CCC>CCT	p.P541P	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.P532P|FBF1_uc002jqd.1_Silent_p.P542P|FBF1_uc002jqb.2_5'Flank|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	541											0						CTACCTGGACGGGCACGGAAG	0.592													A	73917331	G	A	73917331	2	1	165	1	0	0	0	0	0	0	0	1	5695	1103	39	1		1	FBF1	17	73917331	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	356793	73917331	7277879	1138	90291											
TBC1D16	125058	broad.mit.edu	37	chr17	77923563	77923563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgcttctgcagccgcagCgcctcccgctcctccgacgt	9	19	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:77923563C>T	uc002jxj.2	-	7	1475	c.1359G>A	c.(1357-1359)GCG>GCA	p.A453A	TBC1D16_uc002jxh.2_Silent_p.A91A|TBC1D16_uc002jxi.2_Silent_p.A78A|TBC1D16_uc002jxk.1_Silent_p.A91A	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	453	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGCCGCAGCGCCTCCCGCT	0.627													T	77923563	C	T	77923563	2	4	165	1	0	0	0	0	0	0	0	1	15602	755	27	1		1	TBC1D16	17	77923563	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4006232	77923563	3271647	1139	90292											
GAA	2548	broad.mit.edu	37	chr17	78091485	78091485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaggggcagtgggtgacGctgccggcccccctggacac	17	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78091485G>A	uc002jxo.2	+	18	2600	c.2418G>A	c.(2416-2418)ACG>ACA	p.T806T	GAA_uc002jxp.2_Silent_p.T806T|GAA_uc002jxq.2_Silent_p.T806T	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	806					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGTGGGTGACGCTGCCGGCCC	0.682													A	78091485	G	A	78091485	2	1	165	1	0	0	0	0	0	0	0	1	6147	1074	38	1		1	GAA	17	78091485	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	167922	78091485	3103725	1140	90293											
RNF213	57674	broad.mit.edu	37	chr17	78318484	78318484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctttccagcgtacaCgtgtaccccagttcagtttt	6	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78318484C>T	uc002jyh.1	+	4	791	c.568C>T	c.(568-570)CGT>TGT	p.R190C		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCAGCGTACACGTGTACCCCA	0.448													T	78318484	C	T	78318484	3	4	165	1	0	0	0	0	1	0	0	0	13477	536	19	1	6778	1	RNF213	17	78318484	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	226999	78318484	2876726	1141	90294											
RPTOR	57521	broad.mit.edu	37	chr17	78727978	78727978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacccccatcaagatcgccCtgcgctggtgagtggcccct	10	18	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78727978C>A	uc002jyt.1	+	6	1628	c.823C>A	c.(823-825)CTG>ATG	p.L275M	RPTOR_uc002jys.2_Missense_Mutation_p.L275M|RPTOR_uc010wuf.1_Missense_Mutation_p.L90M|RPTOR_uc010wug.1_Missense_Mutation_p.L275M	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	275					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			lung(4)|urinary_tract(1)|ovary(1)	6						CAAGATCGCCCTGCGCTGGTG	0.682													A	78727978	C	A	78727978	3	1	165	1	0	0	0	0	1	0	0	0	13665	680	24	5	845	5	RPTOR	17	78727978	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	409494	78727978	2467232	1142	90295											
RPTOR	57521	broad.mit.edu	37	chr17	78897301	78897301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggcaggggctcccctcCggcgtccagcaccagcagct	12	17	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:78897301C>T	uc002jyt.1	+	23	3441	c.2636C>T	c.(2635-2637)CCG>CTG	p.P879L	RPTOR_uc010wug.1_Missense_Mutation_p.P721L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	879					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			lung(4)|urinary_tract(1)|ovary(1)	6						GGCTCCCCTCCGGCGTCCAGC	0.632													T	78897301	C	T	78897301	3	4	165	1	0	0	0	0	1	0	0	0	13665	652	23	1	2726	1	RPTOR	17	78897301	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	169323	78897301	2297909	1143	90296											
BAIAP2	10458	broad.mit.edu	37	chr17	79077412	79077412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggtggccagcaacggCgccaccctccccagcgccct	11	20	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:79077412C>T	uc002jzg.2	+	8	861	c.753C>T	c.(751-753)GGC>GGT	p.G251G	BAIAP2_uc002jyz.3_Silent_p.G251G|BAIAP2_uc002jza.2_Silent_p.G251G|BAIAP2_uc002jzc.2_Silent_p.G251G|BAIAP2_uc002jzb.2_Silent_p.G8G|BAIAP2_uc002jzd.2_Silent_p.G251G|BAIAP2_uc002jzf.2_Silent_p.G251G|BAIAP2_uc002jze.2_Silent_p.G284G|BAIAP2_uc010wuh.1_Silent_p.G173G|BAIAP2_uc002jzh.2_Silent_p.G252G|BAIAP2_uc010wui.1_Silent_p.G114G	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	251					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				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCAGCAACGGCGCCACCCTCC	0.706													T	79077412	C	T	79077412	2	4	165	1	0	0	0	0	0	0	0	1	1301	755	27	1		1	BAIAP2	17	79077412	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	180111	79077412	2117798	1144	90297											
C17orf70	80233	broad.mit.edu	37	chr17	79508363	79508363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtggatctggcggaggTactgcacacggagatcagga	17	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:79508363T>C	uc002kaq.2	-	8	2541	c.2486A>G	c.(2485-2487)TAC>TGC	p.Y829C	C17orf70_uc002kao.1_Missense_Mutation_p.Y478C|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.Y678C	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	829					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGGCGGAGGTACTGCACACG	0.682													C	79508363	T	C	79508363	3	2	165	1	0	0	0	0	1	0	0	0	1877	1638	57	3	167	3	C17orf70	17	79508363	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	430951	79508363	1686847	1145	90298											
CCDC57	284001	broad.mit.edu	37	chr17	80141780	80141780	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatttgagcatcccaggcagAttttacagttgatgcatctt	8	8	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:80141780A>T	uc002kdz.1	-	9	1436	c.1081T>A	c.(1081-1083)TCT>ACT	p.S361T	CCDC57_uc002kdx.1_Missense_Mutation_p.S361T|CCDC57_uc010dik.1_5'UTR	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	361	Potential.									ovary(2)	2	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)			TCCCAGGCAGATTTTACAGTT	0.453													T	80141780	A	T	80141780	3	4	165	1	0	0	0	0	1	0	0	0	2827	333	12	5	1706	5	CCDC57	17	80141780	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	633417	80141780	1053430	1146	90299											
WDR45L	56270	broad.mit.edu	37	chr17	80573851	80573851	+	Frame_Shift_Del	DEL	C	C	-													gtagacatctcggatgcactCccccttggggttgaacagga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr17:80573850_80573850TC>T	uc002kfq.3	-	9	1175	c.980_980GA>A	c.(979-981)gagfs	p.E327fs	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	327					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			TCGGATGCACTCCCCCTTGGG	0.532													-	80573851	C	-	80573851	7	5	165	1	0	1	0	1	0	0	0	0	17295	864	30	0	59	0	WDR45L	17	80573851	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	432071	80573851	621359	1147	90300											
SMCHD1	23347	broad.mit.edu	37	chr18	2707836	2707836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgaaatactgaataaaaaAggggaagcaatgcaaaagct	9	4	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:2707836A>G	uc002klm.3	+	17	2367	c.2178A>G	c.(2176-2178)AAA>AAG	p.K726K	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	726					chromosome organization		ATP binding				0						TGAATAAAAAAGGGGAAGCAA	0.343													G	2707836	A	G	2707836	2	3	165	1	0	0	0	0	0	0	0	1	14788	69	3	3		3	SMCHD1	18	2707836	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08		2707836	75369412	1148	90301											
SMCHD1	23347	broad.mit.edu	37	chr18	2752539	2752539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacaaagaagatggctgCttctatttcaggtatttctc	8	7	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:2752539C>T	uc002klm.3	+	34	4524	c.4335C>T	c.(4333-4335)TGC>TGT	p.C1445C	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1445					chromosome organization		ATP binding				0						AAGATGGCTGCTTCTATTTCA	0.348													T	2752539	C	T	2752539	2	4	165	1	0	0	0	0	0	0	0	1	14788	805	28	2		2	SMCHD1	18	2752539	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	44703	2752539	75324709	1149	90302											
TMEM200C	645369	broad.mit.edu	37	chr18	5890416	5890416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctactgcgtccaagacCgactcggtggaggtgccggc	14	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:5890416C>T	uc002kmx.1	-	1	1688	c.1647G>A	c.(1645-1647)TCG>TCA	p.S549S		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	549						integral to membrane					0						CGTCCAAGACCGACTCGGTGG	0.687													T	5890416	C	T	5890416	2	4	165	1	0	0	0	0	0	0	0	1	16122	639	23	1		1	TMEM200C	18	5890416	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3137877	5890416	72186832	1150	90303											
LAMA1	284217	broad.mit.edu	37	chr18	7050823	7050823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactctgagtcgctgactGcataatactgccaggggctg	11	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:7050823G>A	uc002knm.2	-	4	552	c.458C>T	c.(457-459)GCA>GTA	p.A153V	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	153	Laminin N-terminal.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCGCTGACTGCATAATACTG	0.498													A	7050823	G	A	7050823	3	1	165	1	0	0	0	0	1	0	0	0	8605	1319	46	2	9009	2	LAMA1	18	7050823	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1160407	7050823	71026425	1151	90304											
RALBP1	10928	broad.mit.edu	37	chr18	9535730	9535730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggccatcatcgagctgcGcgtgcagctgcggctgctcc	14	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:9535730G>A	uc002kob.2	+	10	1986	c.1763G>A	c.(1762-1764)CGC>CAC	p.R588H	RALBP1_uc002koc.2_Missense_Mutation_p.R588H	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	588					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			central_nervous_system(1)	1						ATCGAGCTGCGCGTGCAGCTG	0.592													A	9535730	G	A	9535730	3	1	165	1	0	0	0	0	1	0	0	0	13012	1087	38	1	1797	1	RALBP1	18	9535730	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2484907	9535730	68541518	1152	90305											
FAM38B	63895	broad.mit.edu	37	chr18	10671626	10671626	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctagctccagttctcctgtCtctcgaactaaaaaaatatc	4	12	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:10671626C>T	uc002kor.3	-	14	2168	c.2028G>A	c.(2026-2028)GAG>GAA	p.E676E	FAM38B_uc002koq.2_Silent_p.E511E	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2719						integral to membrane	ion channel activity			ovary(1)	1						GTTCTCCTGTCTCTCGAACTA	0.368													T	10671626	C	T	10671626	2	4	165	1	0	0	0	0	0	0	0	1	5555	912	32	4		4	FAM38B	18	10671626	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1135896	10671626	67405622	1153	90306											
PTPN2	5771	broad.mit.edu	37	chr18	12802072	12802072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctattctgttcccattgtAtttttcagtcattattttgt	4	8	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:12802072A>G	uc002krp.2	-	8	1131	c.937T>C	c.(937-939)TAC>CAC	p.Y313H	PTPN2_uc002krl.2_Missense_Mutation_p.Y313H|PTPN2_uc002krn.2_Missense_Mutation_p.Y336H|PTPN2_uc002kro.2_Missense_Mutation_p.Y313H|PTPN2_uc002krm.2_Missense_Mutation_p.Y313H	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	313					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				TTCCCATTGTATTTTTCAGTC	0.378													G	12802072	A	G	12802072	3	3	165	1	0	0	0	0	1	0	0	0	12785	449	16	3	344	3	PTPN2	18	12802072	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2130446	12802072	65275176	1154	90307											
CEP192	55125	broad.mit.edu	37	chr18	13055922	13055923	+	Frame_Shift_Del	DEL	CT	CT	-													tcatctattatccagaataaCtctgatacaagaaaagcaac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:13055921_13055922ACT>A	uc010xac.2	+	18	3412_3413	c.3332_3333ACT>A	c.(3331-3333)aacfs	p.N1111fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.N636fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Frame_Shift_Del_p.N852fs	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	706										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						ATCCAGAATAACTCTGATACAA	0.381													-	13055923	CT	-	13055922	7	5	165	1	0	1	0	1	0	0	0	0	3251	564	20	0	3403	0	CEP192	18	13055922	Frame_Shift_Del	DEL	CT	TCGA-CG-4305-01A-01D-1158-08	253850	13055922	65021326	1155	90308											
ROCK1	6093	broad.mit.edu	37	chr18	18622646	18622646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatcaggtgttccaaccgCtgtatcacatcgtaccatgc	7	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:18622646C>T	uc002kte.2	-	7	1641	c.700G>A	c.(700-702)GCG>ACG	p.A234T		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	234	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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GTTCCAACCGCTGTATCACAT	0.373													T	18622646	C	T	18622646	3	4	165	1	0	0	0	0	1	0	0	0	13517	797	28	2	3472	2	ROCK1	18	18622646	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	5566724	18622646	59454602	1156	90309											
SNRPD1	6632	broad.mit.edu	37	chr18	19209067	19209067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggaagaggacgtggcCgtggcagaggaagagggggt	22	4	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:19209067C>T	uc002ktj.1	+	4	459	c.328C>T	c.(328-330)CGT>TGT	p.R110C		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	110	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						aggacgtggccgtggcagagg	0.249													T	19209067	C	T	19209067	3	4	165	1	0	0	0	0	1	0	0	0	14864	652	23	1	342	1	SNRPD1	18	19209067	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	586421	19209067	58868181	1157	90310											
CTAGE1	64693	broad.mit.edu	37	chr18	19997258	19997258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatttctatctccaaccGttcttcattcgcttgaaatc	4	11	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:19997258G>A	uc002ktv.1	-	1	621	c.517C>T	c.(517-519)CGG>TGG	p.R173W		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	173	Potential.					integral to membrane				ovary(1)	1	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)					ATCTCCAACCGTTCTTCATTC	0.388													A	19997258	G	A	19997258	3	1	165	1	0	0	0	0	1	0	0	0	3992	1144	40	1	1724	1	CTAGE1	18	19997258	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	788191	19997258	58079990	1158	90311											
RBBP8	5932	broad.mit.edu	37	chr18	20573099	20573099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgataaacatttggagcccCtgaaatcattgggaggccga	11	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:20573099C>A	uc002ktw.2	+	11	1640	c.1309C>A	c.(1309-1311)CTG>ATG	p.L437M	RBBP8_uc002kty.2_Missense_Mutation_p.L437M|RBBP8_uc002ktz.2_Missense_Mutation_p.L437M|RBBP8_uc002kua.2_Missense_Mutation_p.L437M|RBBP8_uc002ktx.1_Missense_Mutation_p.L437M	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	437					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			ovary(1)|lung(1)|skin(1)	3	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)			TTTGGAGCCCCTGAAATCATT	0.373								Direct_reversal_of_damage|Homologous_recombination					A	20573099	C	A	20573099	3	1	165	1	0	0	0	0	1	0	0	0	13105	680	24	5	1347	5	RBBP8	18	20573099	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	575841	20573099	57504149	1159	90312											
NPC1	4864	broad.mit.edu	37	chr18	21114443	21114443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaagtgcctcttccgcGcgctccacgcggctgccttt	12	16	1	0	rs141659629	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:21114443G>A	uc002kum.3	-	23	3832	c.3558C>T	c.(3556-3558)CGC>CGT	p.R1186R	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Silent_p.R919R	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1186			R -> H (in NPC1).		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			ovary(2)	2	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)					CCTCTTCCGCGCGCTCCACGC	0.582													A	21114443	G	A	21114443	2	1	165	1	0	0	0	0	0	0	0	1	10570	1074	38	1		1	NPC1	18	21114443	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	541344	21114443	56962805	1160	90313											
NPC1	4864	broad.mit.edu	37	chr18	21121356	21121359	+	Frame_Shift_Del	DEL	AGAG	AGAG	-													gaagactgccaatcccgcaaAgagagagaaggtgtgcacgg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:21121355_21121358AAGAG>A	uc002kum.4	-	14	2559_2562	c.2285_2288CTCTT>T	c.(2284-2289)ctctttfs	p.L762fs	NPC1_uc010xaz.2_Frame_Shift_Del_p.L495fs|NPC1_uc010xba.1_Frame_Shift_Del_p.L607fs	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	762	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)					CAATCCCGCAAAGAGAGAGAAGGT	0.529													-	21121359	AGAG	-	21121356	7	5	165	1	0	1	0	1	0	0	0	0	10570	72	3	0	1593	0	NPC1	18	21121356	Frame_Shift_Del	DEL	AGAG	TCGA-CG-4305-01A-01D-1158-08	6913	21121356	56955892	1161	90314											
ZNF521	25925	broad.mit.edu	37	chr18	22804544	22804544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaagcctggtctattcGtgccgggagggacgttaatg	15	10	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:22804544G>A	uc002kvk.2	-	4	3585	c.3338C>T	c.(3337-3339)ACG>ATG	p.T1113M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T1113M|ZNF521_uc002kvl.2_Missense_Mutation_p.T893M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1113					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGTCTATTCGTGCCGGGAGG	0.552			T	PAX5	ALL								A	22804544	G	A	22804544	3	1	165	1	0	0	0	0	1	0	0	0	17962	1145	40	1	617	1	ZNF521	18	22804544	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1683188	22804544	55272704	1162	90315											
CDH2	1000	broad.mit.edu	37	chr18	25568495	25568495	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcgaacataccattgtcAgaagcaaggaaagtagcatt	9	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:25568495A>G	uc002kwg.2	-	11	2193	c.1734T>C	c.(1732-1734)TCT>TCC	p.S578S	CDH2_uc010xbn.1_Silent_p.S547S	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	578	Extracellular (Potential).|Cadherin 4.				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			ovary(3)|lung(1)	4						TACCATTGTCAGAAGCAAGGA	0.338													G	25568495	A	G	25568495	2	3	165	1	0	0	0	0	0	0	0	1	3105	175	7	3		3	CDH2	18	25568495	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2763951	25568495	52508753	1163	90316											
KLHL14	57565	broad.mit.edu	37	chr18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-													agcgccagctccgactccacGgggggcggcagcgagtccag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:30349861_30349861CG>C	uc002kxm.1	-	1	1082	c.694_694CG>G	c.(694-696)gtgfs	p.V232fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	232	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCCGACTCCACGGGGGGCGGC	0.647													-	30349862	G	-	30349862	7	5	165	1	0	1	0	1	0	0	0	0	8370	1103	39	0	1225	0	KLHL14	18	30349862	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	4781367	30349862	47727386	1164	90317											
ELP2	55250	broad.mit.edu	37	chr18	33713227	33713227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgttaccaacttgaaTggtcacaccgcccgagtcaa	9	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:33713227T>C	uc002kzk.1	+	2	175	c.165T>C	c.(163-165)AAT>AAC	p.N55N	ELP2_uc010xcg.1_Silent_p.N55N|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.N55N|ELP2_uc010xch.1_Silent_p.N55N|ELP2_uc002kzn.1_Silent_p.N55N|ELP2_uc002kzo.1_Silent_p.N55N	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	55					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						CCAACTTGAATGGTCACACCG	0.318													C	33713227	T	C	33713227	2	2	165	1	0	0	0	0	0	0	0	1	5080	1461	51	3		3	ELP2	18	33713227	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	3363365	33713227	44364021	1165	90318											
FHOD3	80206	broad.mit.edu	37	chr18	34298520	34298520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagaaaaagaagaccatcCgtttgttctggaatgaagtt	9	6	1	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:34298520C>T	uc002kzt.1	+	15	2780	c.2683C>T	c.(2683-2685)CGT>TGT	p.R895C	FHOD3_uc002kzs.1_Missense_Mutation_p.R912C|FHOD3_uc010dmz.1_Missense_Mutation_p.R627C|FHOD3_uc010dna.1_Missense_Mutation_p.R215C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	895	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAAGACCATCCGTTTGTTCTG	0.502													T	34298520	C	T	34298520	3	4	165	1	0	0	0	0	1	0	0	0	5883	652	23	1	2796	1	FHOD3	18	34298520	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	585293	34298520	43778728	1166	90319											
SETBP1	26040	broad.mit.edu	37	chr18	42533097	42533097	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcacgaaaagatactcTggcagtggcggggatggtgg	16	7	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:42533097T>G	uc010dni.2	+	4	4088	c.3792T>G	c.(3790-3792)TCT>TCG	p.S1264S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1264						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGATACTCTGGCAGTGGCG	0.532									Schinzel-Giedion_syndrome				G	42533097	T	G	42533097	2	3	165	1	0	0	0	0	0	0	0	1	14129	1567	55	5		5	SETBP1	18	42533097	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	8234577	42533097	35544151	1167	90320											
PIAS2	9063	broad.mit.edu	37	chr18	44409833	44409833	+	Splice_Site	DEL	A	A	-													agaatttccataaaaagcctAaaaaacaattaagaagtaca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:44409832_44409832TA>T	uc002lck.3	-	10	1390	c.1203_splice	c.e10-1	p.G401_splice	PIAS2_uc010dnp.3_Splice_Site_p.G99_splice|PIAS2_uc010xda.2_Splice_Site_p.G99_splice|PIAS2_uc002lcl.3_Splice_Site_p.G401_splice|PIAS2_uc002lcm.3_Splice_Site_p.G401_splice	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	401					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|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						ATAAAAAGCCTAAAAAACAAT	0.333													-	44409833	A	-	44409833	8	5	165	1	0	1	0	1	0	0	1	0	11876	377	13	0		0	PIAS2	18	44409833	Splice_Site	DEL	A	TCGA-CG-4305-01A-01D-1158-08	1876736	44409833	33667415	1168	90321											
MYO5B	4645	broad.mit.edu	37	chr18	47479669	47479669	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatctgctcttcatacacCgtgtctctgtttttctccag	6	12	5	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:47479669C>A	uc002leb.2	-	14	2001	c.1713G>T	c.(1711-1713)ACG>ACT	p.T571T	MYO5B_uc002lec.1_Silent_p.T570T	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	571	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CTTCATACACCGTGTCTCTGT	0.522													A	47479669	C	A	47479669	2	1	165	1	0	0	0	0	0	0	0	1	10079	639	23	5		5	MYO5B	18	47479669	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3069836	47479669	30597579	1169	90322											
FECH	2235	broad.mit.edu	37	chr18	55240556	55240556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacatctccaagagtttcaGggcctcccatgtttagcatt	8	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:55240556G>T	uc002lgq.3	-	3	353	c.236C>A	c.(235-237)CCT>CAT	p.P79H	FECH_uc002lgp.3_Missense_Mutation_p.P85H|FECH_uc002lgr.3_Translation_Start_Site	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	79					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				AAGAGTTTCAGGGCCTCCCAT	0.398													T	55240556	G	T	55240556	3	4	165	1	0	0	0	0	1	0	0	0	5808	1000	35	5	1071	5	FECH	18	55240556	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	7760887	55240556	22836692	1170	90323											
ZNF532	55205	broad.mit.edu	37	chr18	56586342	56586342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctgcatcgctgccatcGcggctctcagcgctaaaaag	10	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:56586342G>A	uc002lho.2	+	4	1370	c.823G>A	c.(823-825)GCG>ACG	p.A275T	ZNF532_uc002lhp.2_Missense_Mutation_p.A273T|ZNF532_uc010xeg.1_Missense_Mutation_p.A273T|ZNF532_uc002lhr.2_Missense_Mutation_p.A273T|ZNF532_uc002lhs.2_Missense_Mutation_p.A273T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CGCTGCCATCGCGGCTCTCAG	0.552													A	56586342	G	A	56586342	3	1	165	1	0	0	0	0	1	0	0	0	17969	1087	38	1	825	1	ZNF532	18	56586342	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1345786	56586342	21490906	1171	90324											
CDH20	28316	broad.mit.edu	37	chr18	59195263	59195263	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggagccaatcctcacctaGagatgcgttttctgaacttg	10	10	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:59195263G>T	uc010dps.1	+	6	1093	c.1081G>T	c.(1081-1083)GAG>TAG	p.E361*	CDH20_uc002lif.2_Nonsense_Mutation_p.E355*	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	361	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TCCTCACCTAGAGATGCGTTT	0.478													T	59195263	G	T	59195263	4	4	165	1	0	0	0	0	0	1	0	0	3106	943	33	5	1103	5	CDH20	18	59195263	Nonsense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2608921	59195263	18881985	1172	90325											
CDH19	28513	broad.mit.edu	37	chr18	64202234	64202234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacttacatttttctgtgGctgtaatacttaggttgtac	8	6	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:64202234G>A	uc002lkc.1	-	8	1463	c.1325C>T	c.(1324-1326)GCC>GTC	p.A442V	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.A442V|CDH19_uc002lkd.2_Missense_Mutation_p.A442V	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	442	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TTTTTCTGTGGCTGTAATACT	0.333													A	64202234	G	A	64202234	3	1	165	1	0	0	0	0	1	0	0	0	3104	1203	42	2	1013	2	CDH19	18	64202234	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	5006971	64202234	13875014	1173	90326											
TSHZ1	10194	broad.mit.edu	37	chr18	72999092	72999092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctcatggggtggctaccCcagcatccatgcagcctacc	10	17	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:72999092C>A	uc002lly.2	+	2	2158	c.1595C>A	c.(1594-1596)CCC>CAC	p.P532H		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	577						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GGTGGCTACCCCAGCATCCAT	0.642													A	72999092	C	A	72999092	3	1	165	1	0	0	0	0	1	0	0	0	16620	623	22	5	1597	5	TSHZ1	18	72999092	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	8796858	72999092	5078156	1174	90327											
SALL3	27164	broad.mit.edu	37	chr18	76752144	76752144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggggcgaggagaccagCgtgtgcgagaaatgctgcgc	19	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:76752144C>T	uc002lmt.2	+	2	153	c.153C>T	c.(151-153)AGC>AGT	p.S51S	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		AGGAGACCAGCGTGTGCGAGA	0.687													T	76752144	C	T	76752144	2	4	165	1	0	0	0	0	0	0	0	1	13812	767	27	1		1	SALL3	18	76752144	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3753052	76752144	1325104	1175	90328											
NFATC1	4772	broad.mit.edu	37	chr18	77171052	77171052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccgctcctccagaccCgcgtccccttgcaacaagag	10	18	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:77171052C>T	uc010xfg.1	+	2	1230	c.777C>T	c.(775-777)CCC>CCT	p.P259P	NFATC1_uc002lnc.1_Silent_p.P259P|NFATC1_uc010xff.1_Silent_p.P259P|NFATC1_uc002lnd.2_Silent_p.P259P|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.P259P|NFATC1_uc010xfi.1_Silent_p.P246P|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.P246P|NFATC1_uc002lng.2_Silent_p.P246P|NFATC1_uc010xfk.1_Silent_p.P246P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	259	3 X SP repeats.				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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTCCAGACCCGCGTCCCCTT	0.731													T	77171052	C	T	77171052	2	4	165	1	0	0	0	0	0	0	0	1	10361	639	23	1		1	NFATC1	18	77171052	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	418908	77171052	906196	1176	90329											
ADNP2	22850	broad.mit.edu	37	chr18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-													agattttagcattagatcctAaaaaatatgaaggccgttct							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr18:77896425_77896425TA>T	uc002lnw.3	+	3	3584	c.3129_3129TA>T	c.(3127-3129)cctfs	p.P1043fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1043					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATTAGATCCTAAAAAATATG	0.353													-	77896426	A	-	77896426	7	5	165	1	0	1	0	1	0	0	0	0	324	363	13	0	3140	0	ADNP2	18	77896426	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	725374	77896426	180822	1177	90330											
FSTL3	10272	broad.mit.edu	37	chr19	681492	681492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcacctacatctcctcgtGccacatgcgccaggccacct	7	19	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:681492G>A	uc002lpk.1	+	4	700	c.665G>A	c.(664-666)TGC>TAC	p.C222Y	FSTL3_uc010drt.1_RNA	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	222	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				0		all_epithelial(18;2.19e-21)|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)		ATCTCCTCGTGCCACATGCGC	0.711			T	CCND1	B-CLL								A	681492	G	A	681492	3	1	165	1	0	0	0	0	1	0	0	0	6078	1319	46	2	679	2	FSTL3	19	681492	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		681492	58447491	1178	90331											
ZNF554	115196	broad.mit.edu	37	chr19	2832394	2832394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactagtctttcctcatggaCggggtatttactttttcaac	7	10	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:2832394C>T	uc002lwm.2	+	4	545	c.347C>T	c.(346-348)ACG>ATG	p.T116M	ZNF554_uc002lwl.2_Missense_Mutation_p.T65M	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TCCTCATGGACGGGGTATTTA	0.468													T	2832394	C	T	2832394	3	4	165	1	0	0	0	0	1	0	0	0	17982	536	19	1	361	1	ZNF554	19	2832394	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2150902	2832394	56296589	1179	90332											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028805	+	Splice_Site	INS	-	-	G													ccggactggagcggggtctgINSgggggggtgtgggggaaacg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:3028803_3028804T>TG	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTGT	0.624													G	3028805	-	G	3028804	8	5	165	1	0	1	1	0	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	INS	-	TCGA-CG-4305-01A-01D-1158-08	196410	3028804	56100179	1180	90333											
S1PR4	8698	broad.mit.edu	37	chr19	3179131	3179131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgcaccttccgtctggCgcccgcccagtggttcctac	11	19	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:3179131C>T	uc002lxg.2	+	1	366	c.341C>T	c.(340-342)GCG>GTG	p.A114V		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	114	Extracellular (By similarity).				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			lung(1)|skin(1)	2						TTCCGTCTGGCGCCCGCCCAG	0.667													T	3179131	C	T	3179131	3	4	165	1	0	0	0	0	1	0	0	0	13796	768	27	1	343	1	S1PR4	19	3179131	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	150327	3179131	55949852	1181	90334											
NFIC	4782	broad.mit.edu	37	chr19	3382065	3382065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcggacaaggtgtggcGgctggacctggtcatggtca	18	9	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:3382065G>A	uc010xhi.1	+	2	448	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	NFIC_uc002lxo.2_Missense_Mutation_p.R120Q|NFIC_uc010xhh.1_Missense_Mutation_p.R120Q|NFIC_uc002lxp.2_Missense_Mutation_p.R129Q|NFIC_uc010xhj.1_Missense_Mutation_p.R129Q|NFIC_uc002lxq.1_Missense_Mutation_p.R81Q	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	129	CTF/NF-I.				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				0		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)		AAGGTGTGGCGGCTGGACCTG	0.672													A	3382065	G	A	3382065	3	1	165	1	0	0	0	0	1	0	0	0	10372	1116	39	1	399	1	NFIC	19	3382065	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	202934	3382065	55746918	1182	90335											
PLIN4	729359	broad.mit.edu	37	chr19	4510529	4510529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctgcagcattgccaagCgtggggcttcttcggggccg	14	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:4510529C>T	uc002mar.1	-	3	3401	c.3401G>A	c.(3400-3402)CGC>CAC	p.R1134H	PLIN4_uc010dub.1_Missense_Mutation_p.R158H	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1134						lipid particle|plasma membrane					0						CATTGCCAAGCGTGGGGCTTC	0.657													T	4510529	C	T	4510529	3	4	165	1	0	0	0	0	1	0	0	0	12092	768	27	1	688	1	PLIN4	19	4510529	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1128464	4510529	54618454	1183	90336											
KDM4B	23030	broad.mit.edu	37	chr19	5110659	5110659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccggaaggacatggtcaaGatctccatggacgtgttcgt	13	9	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:5110659G>A	uc002mbq.3	+	10	1171	c.945G>A	c.(943-945)AAG>AAA	p.K315K	KDM4B_uc010xil.1_Silent_p.K315K|KDM4B_uc010xim.1_Silent_p.K315K|KDM4B_uc002mbr.3_Silent_p.K73K	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	315					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			lung(1)	1						ACATGGTCAAGATCTCCATGG	0.672													A	5110659	G	A	5110659	2	1	165	1	0	0	0	0	0	0	0	1	8129	933	33	4		4	KDM4B	19	5110659	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	600130	5110659	54018324	1184	90337											
PTPRS	5802	broad.mit.edu	37	chr19	5212258	5212258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgtgcggcccacaccGgcactgcagggacagccacg	13	17	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:5212258G>A	uc002mbv.2	-	32	5007	c.4773C>T	c.(4771-4773)GCC>GCT	p.A1591A	PTPRS_uc002mbu.1_Silent_p.A1160A|PTPRS_uc010xin.1_Silent_p.A1133A|PTPRS_uc002mbw.2_Silent_p.A1553A|PTPRS_uc002mbx.2_Silent_p.A1148A|PTPRS_uc002mby.2_Silent_p.A1144A	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1591	Substrate binding (By similarity).|Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCCCACACCGGCACTGCAGG	0.637													A	5212258	G	A	5212258	2	1	165	1	0	0	0	0	0	0	0	1	12811	1103	39	1		1	PTPRS	19	5212258	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	101599	5212258	53916725	1185	90338											
ZNRF4	148066	broad.mit.edu	37	chr19	5456550	5456550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccggcgctcctgccccGtgtgcaaacagtcggtggcc	12	19	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:5456550G>A	uc002mca.3	+	1	1125	c.1048G>A	c.(1048-1050)GTG>ATG	p.V350M		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	350	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding	p.V350M(1)		large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTCCTGCCCCGTGTGCAAACA	0.642													A	5456550	G	A	5456550	3	1	165	1	0	0	0	0	1	0	0	0	18211	1145	40	1	1050	1	ZNRF4	19	5456550	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	244292	5456550	53672433	1186	90339											
ALKBH7	84266	broad.mit.edu	37	chr19	6374236	6374236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacggcttccgagagaCagagaagtcgcgctggtcag	13	12	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:6374236C>T	uc002meo.1	+	2	615	c.227C>T	c.(226-228)ACA>ATA	p.T76I		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	spermatogenesis associated 11 precursor	76						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTCCGAGAGACAGAGAAGTCG	0.657													T	6374236	C	T	6374236	3	4	165	1	0	0	0	0	1	0	0	0	532	478	17	4	233	4	ALKBH7	19	6374236	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	917686	6374236	52754747	1187	90340											
C3	718	broad.mit.edu	37	chr19	6718271	6718271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcacctgtggagccaggGgtgtagatggtcttgtctgt	15	9	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:6718271G>A	uc002mfm.2	-	3	482	c.420C>T	c.(418-420)ACC>ACT	p.T140T		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	140					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGAGCCAGGGGTGTAGATGG	0.657													A	6718271	G	A	6718271	2	1	165	1	0	0	0	0	0	0	0	1	2204	1219	43	4		4	C3	19	6718271	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	344035	6718271	52410712	1188	90341											
INSR	3643	broad.mit.edu	37	chr19	7120730	7120730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctttccggtagtaatccGtttcatagatgtctctggtc	8	12	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:7120730G>A	uc002mgd.1	-	20	3669	c.3560C>T	c.(3559-3561)ACG>ATG	p.T1187M	INSR_uc002mge.1_Missense_Mutation_p.T1175M	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1187	Protein kinase.|Cytoplasmic (Potential).				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			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTAGTAATCCGTTTCATAGAT	0.527													A	7120730	G	A	7120730	3	1	165	1	0	0	0	0	1	0	0	0	7773	1145	40	1	600	1	INSR	19	7120730	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	402459	7120730	52008253	1189	90342											
MCOLN1	57192	broad.mit.edu	37	chr19	7592423	7592423	+	Frame_Shift_Del	DEL	C	C	-													tagactgcatccaggtggatCcccccgagcggccccctccg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:7592422_7592422TC>T	uc002mgo.3	+	4	729	c.588_588TC>T	c.(586-588)gatfs	p.D196fs	MCOLN1_uc002mgp.3_Frame_Shift_Del_p.I83fs	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	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						TCCAGGTGGATCCCCCCGAGC	0.642													-	7592423	C	-	7592423	7	5	165	1	0	1	0	1	0	0	0	0	9395	855	30	0	607	0	MCOLN1	19	7592423	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	471693	7592423	51536560	1190	90343											
ELAVL1	1994	broad.mit.edu	37	chr19	8028545	8028545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcacattggtgacggcaCcaaacggcccaaacatctgc	8	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:8028545C>T	uc002mjb.2	-	6	970	c.803G>A	c.(802-804)GGT>GAT	p.G268D		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	268	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GGTGACGGCACCAAACGGCCC	0.547													T	8028545	C	T	8028545	3	4	165	1	0	0	0	0	1	0	0	0	5049	507	18	4	181	4	ELAVL1	19	8028545	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	436122	8028545	51100438	1191	90344											
FBN3	84467	broad.mit.edu	37	chr19	8182094	8182094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcagcgagtagccctgcCcacagctgcaccggtagctg	12	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:8182094C>T	uc002mjf.2	-	27	3566	c.3545G>A	c.(3544-3546)GGG>GAG	p.G1182E		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1182	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GTAGCCCTGCCCACAGCTGCA	0.602													T	8182094	C	T	8182094	3	4	165	1	0	0	0	0	1	0	0	0	5704	623	22	4	5032	4	FBN3	19	8182094	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	153549	8182094	50946889	1192	90345											
ACTL9	284382	broad.mit.edu	37	chr19	8808202	8808202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggtgaccgtgcgcccatCgggcagcttcagagtccgct	14	14	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:8808202C>T	uc002mkl.2	-	1	971	c.850G>A	c.(850-852)GAT>AAT	p.D284N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	284						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						GTGCGCCCATCGGGCAGCTTC	0.637													T	8808202	C	T	8808202	3	4	165	1	0	0	0	0	1	0	0	0	203	884	31	1	404	1	ACTL9	19	8808202	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	626108	8808202	50320781	1193	90346											
MUC16	94025	broad.mit.edu	37	chr19	9049116	9049116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatggaaaaaaatggaagTtgtccagggaactgttgggc	13	5	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:9049116T>C	uc002mkp.2	-	5	32719	c.32515A>G	c.(32515-32517)ACT>GCT	p.T10839A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10841	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AAAATGGAAGTTGTCCAGGGA	0.473													C	9049116	T	C	9049116	3	2	165	1	0	0	0	0	1	0	0	0	9973	1725	60	3	11328	3	MUC16	19	9049116	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	240914	9049116	50079867	1194	90347											
ANGPTL6	83854	broad.mit.edu	37	chr19	10204415	10204415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgactgaaccatcttgcCtccgctggatcacagtccag	9	13	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10204415C>A	uc002mmx.1	-	4	1023	c.905G>T	c.(904-906)AGG>ATG	p.R302M	ANGPTL6_uc002mmy.1_Missense_Mutation_p.R302M	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	302	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			ACCATCTTGCCTCCGCTGGAT	0.572													A	10204415	C	A	10204415	3	1	165	1	0	0	0	0	1	0	0	0	618	681	24	5	519	5	ANGPTL6	19	10204415	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1155299	10204415	48924568	1195	90348											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10218766	10218766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcatgtgaagctcatgGccaccatgttccagaacctg	10	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10218766G>A	uc002mna.2	+	5	469	c.469G>A	c.(469-471)GCC>ACC	p.A157T	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.A157T|PPAN_uc002mmz.1_Missense_Mutation_p.A157T|PPAN_uc002mnb.1_Missense_Mutation_p.A104T|SNORD105B_uc010dwz.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	157	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAAGCTCATGGCCACCATGTT	0.622													A	10218766	G	A	10218766	3	1	165	1	0	0	0	0	1	0	0	0	12289	1203	42	2	487	2	PPAN-P2RY11	19	10218766	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	14351	10218766	48910217	1196	90349											
S1PR2	9294	broad.mit.edu	37	chr19	10335348	10335348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgcctgccagtagatcGgaggcggccaggttgcccag	15	14	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10335348G>A	uc002mnl.2	-	2	345	c.234C>T	c.(232-234)TCC>TCT	p.S78S		NM_004230	NP_004221	O95136	S1PR2_HUMAN	endothelial differentiation, sphingolipid	78	Helical; Name=2; (By similarity).				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|central_nervous_system(1)	2						CCAGTAGATCGGAGGCGGCCA	0.602													A	10335348	G	A	10335348	2	1	165	1	0	0	0	0	0	0	0	1	13794	1103	39	1		1	S1PR2	19	10335348	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	116582	10335348	48793635	1197	90350											
KEAP1	9817	broad.mit.edu	37	chr19	10602646	10602646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacctgcgtgggcttgTgcagggtgagctcctcgaag	15	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:10602646T>C	uc002moq.1	-	3	1088	c.932A>G	c.(931-933)CAC>CGC	p.H311R	KEAP1_uc002mop.1_Missense_Mutation_p.H29R|KEAP1_uc002mor.1_Missense_Mutation_p.H311R	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGTGGGCTTGTGCAGGGTGAG	0.637													C	10602646	T	C	10602646	3	2	165	1	0	0	0	0	1	0	0	0	8141	1696	59	3	958	3	KEAP1	19	10602646	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	267298	10602646	48526337	1198	90351											
KANK2	25959	broad.mit.edu	37	chr19	11304273	11304273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgggggtggcaaccccacGcccaccagggaggctgtcga	16	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:11304273G>A	uc010dxv.2	-	6	1041	c.483C>T	c.(481-483)GGC>GGT	p.G161G	KANK2_uc002mqm.2_Silent_p.G161G|KANK2_uc002mqo.3_Silent_p.G161G|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Silent_p.G161G	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	161											0						GCAACCCCACGCCCACCAGGG	0.731													A	11304273	G	A	11304273	2	1	165	1	0	0	0	0	0	0	0	1	7977	1074	38	1		1	KANK2	19	11304273	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	701627	11304273	47824710	1199	90352											
MAN2B1	4125	broad.mit.edu	37	chr19	12776529	12776529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactcacttccataaaagtActggtccacggttttgagcc	7	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:12776529A>G	uc002mub.2	-	2	326	c.250T>C	c.(250-252)TAC>CAC	p.Y84H	MAN2B1_uc010dyv.1_Missense_Mutation_p.Y84H|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	84					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CCATAAAAGTACTGGTCCACG	0.577													G	12776529	A	G	12776529	3	3	165	1	0	0	0	0	1	0	0	0	9216	391	14	3	2877	3	MAN2B1	19	12776529	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1472256	12776529	46352454	1200	90353											
TNPO2	30000	broad.mit.edu	37	chr19	12812476	12812476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctacagcatcgcagaagAaaataaagtcctgaaacgtg	10	8	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:12812476A>G	uc002muo.2	-	23	2707	c.2522T>C	c.(2521-2523)TTC>TCC	p.F841S	TNPO2_uc002mup.2_Missense_Mutation_p.F923S|TNPO2_uc002muq.2_Missense_Mutation_p.F831S|TNPO2_uc002mur.2_Missense_Mutation_p.F831S	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	841				F -> L (in Ref. 2; AAB71349).	intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						ATCGCAGAAGAAAATAAAGTC	0.612													G	12812476	A	G	12812476	3	3	165	1	0	0	0	0	1	0	0	0	16333	246	9	3	179	3	TNPO2	19	12812476	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	35947	12812476	46316507	1201	90354											
AKAP8	10270	broad.mit.edu	37	chr19	15483890	15483890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggacgcagcggggggCacgaaggggtcgctgcgcat	19	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:15483890C>T	uc002nav.2	-	5	694	c.633G>A	c.(631-633)GTG>GTA	p.V211V	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Silent_p.V25V	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	211					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						CAGCGGGGGGCACGAAGGGGT	0.726													T	15483890	C	T	15483890	2	4	165	1	0	0	0	0	0	0	0	1	457	697	25	2		2	AKAP8	19	15483890	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2671414	15483890	43645093	1202	90355											
CYP4F22	126410	broad.mit.edu	37	chr19	15636311	15636311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctacatcacctgccgccGgctgcgctgcttcccccagc	8	20	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:15636311G>A	uc002nbh.3	+	3	331	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	55						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						ACCTGCCGCCGGCTGCGCTGC	0.537													A	15636311	G	A	15636311	3	1	165	1	0	0	0	0	1	0	0	0	4189	1116	39	1	166	1	CYP4F22	19	15636311	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	152421	15636311	43492672	1203	90356											
CYP4F22	126410	broad.mit.edu	37	chr19	15648384	15648384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaggtgacaagtggagcCggcaccgtcgcctgctgaca	14	12	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:15648384C>T	uc002nbh.3	+	6	627	c.460C>T	c.(460-462)CGG>TGG	p.R154W		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	154						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CAAGTGGAGCCGGCACCGTCG	0.547													T	15648384	C	T	15648384	3	4	165	1	0	0	0	0	1	0	0	0	4189	643	23	1	474	1	CYP4F22	19	15648384	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	12073	15648384	43480599	1204	90357											
C19orf44	84167	broad.mit.edu	37	chr19	16612361	16612361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagaaagaaaactattttCggtgagattttttttttttg	8	2	0	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:16612361C>T	uc002neh.1	+	2	831	c.758C>T	c.(757-759)TCG>TTG	p.S253L	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S253L|C19orf44_uc002neg.2_Missense_Mutation_p.S253L|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	253											0						AAACTATTTTCGGTGAGAttt	0.229													T	16612361	C	T	16612361	3	4	165	1	0	0	0	0	1	0	0	0	1927	898	31	1	760	1	C19orf44	19	16612361	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	963977	16612361	42516622	1205	90358											
CPAMD8	27151	broad.mit.edu	37	chr19	17039884	17039885	+	Frame_Shift_Ins	INS	-	-	C													atgacctggtgttctgatgcINSccccccaggacgatctcgat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:17039883_17039884G>GC	uc002nfb.3	-	23	3185_3186	c.3153_3154C>GC	c.(3151-3156)gggcatfs	p.G1051fs		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1004						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(2)		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						GTGTTCTGATGCCCCCCCAGGA	0.584													C	17039885	-	C	17039884	7	5	165	1	0	1	1	0	0	0	0	0	3795	726	26	0	2721	0	CPAMD8	19	17039884	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	427523	17039884	42089099	1206	90359											
ANKLE1	126549	broad.mit.edu	37	chr19	17396566	17396566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgttgtgtccctacattGcttccagcacgtggtcgctg	12	12	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:17396566G>A	uc002nga.2	+	8	1889	c.1613G>A	c.(1612-1614)TGC>TAC	p.C538Y	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.C534Y|ANKLE1_uc010xpn.1_Intron|ANKLE1_uc002nfy.2_Missense_Mutation_p.C501Y|ANKLE1_uc002nfz.2_Missense_Mutation_p.C244Y	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	538						nuclear envelope					0						TCCCTACATTGCTTCCAGCAC	0.577													A	17396566	G	A	17396566	3	1	165	1	0	0	0	0	1	0	0	0	632	1319	46	2	1643	2	ANKLE1	19	17396566	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	356682	17396566	41732417	1207	90360											
ARRDC2	27106	broad.mit.edu	37	chr19	18120452	18120452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgatcctggtactgtaacCgtggcctagtctccctttcg	9	15	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18120452C>T	uc002nhv.2	+	4	684	c.541C>T	c.(541-543)CGT>TGT	p.R181C	ARRDC2_uc002nhu.2_Missense_Mutation_p.R176C	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	181										pancreas(1)	1						GTACTGTAACCGTGGCCTAGT	0.602													T	18120452	C	T	18120452	3	4	165	1	0	0	0	0	1	0	0	0	983	652	23	1	818	1	ARRDC2	19	18120452	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	723886	18120452	41008531	1208	90361											
ARRDC2	27106	broad.mit.edu	37	chr19	18121027	18121027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtggatatcccaggaaCgtccaagctgctgctggagc	13	11	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18121027C>T	uc002nhv.2	+	6	1015	c.872C>T	c.(871-873)ACG>ATG	p.T291M	ARRDC2_uc002nhu.2_Missense_Mutation_p.T286M	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	291										pancreas(1)	1						ATCCCAGGAACGTCCAAGCTG	0.632													T	18121027	C	T	18121027	3	4	165	1	0	0	0	0	1	0	0	0	983	536	19	1	1157	1	ARRDC2	19	18121027	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	575	18121027	41007956	1209	90362											
PIK3R2	5296	broad.mit.edu	37	chr19	18279572	18279572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacgaggacgatctcccGcaccacgaggaacgcacttg	13	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18279572G>A	uc002nia.1	+	15	2357	c.1845G>A	c.(1843-1845)CCG>CCA	p.P615P	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	615					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			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						ACGATCTCCCGCACCACGAGG	0.667											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18279572	G	A	18279572	2	1	165	1	0	0	0	0	0	0	0	1	11919	1074	38	1		1	PIK3R2	19	18279572	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	158545	18279572	40849411	1210	90363											
KIAA1683	80726	broad.mit.edu	37	chr19	18375881	18375881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggacctcacaggctgcCgggcatggtcccccctgagt	12	17	1	1	rs149210128		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18375881C>T	uc002nin.2	-	3	2685	c.2469G>A	c.(2467-2469)CCG>CCA	p.P823P	KIAA1683_uc010ebn.2_Silent_p.P823P|KIAA1683_uc010xqe.1_Silent_p.P777P	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	823						mitochondrion				ovary(2)	2						CACAGGCTGCCGGGCATGGTC	0.677													T	18375881	C	T	18375881	2	4	165	1	0	0	0	0	0	0	0	1	8251	639	23	1		1	KIAA1683	19	18375881	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	96309	18375881	40753102	1211	90364											
TMEM59L	25789	broad.mit.edu	37	chr19	18729233	18729233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctgcctcttcctctcCgtgctggtgatgctgtggct	12	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:18729233C>T	uc002njy.3	+	7	918	c.831C>T	c.(829-831)TCC>TCT	p.S277S		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	277	Helical; (Potential).					Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TCTTCCTCTCCGTGCTGGTGA	0.697													T	18729233	C	T	18729233	2	4	165	1	0	0	0	0	0	0	0	1	16183	639	23	1		1	TMEM59L	19	18729233	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	353352	18729233	40399750	1212	90365											
NCAN	1463	broad.mit.edu	37	chr19	19335242	19335242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgcccgggagctggggGgtaagtctgggactggcagg	20	8	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19335242G>T	uc002nlz.2	+	5	877	c.778G>T	c.(778-780)GGC>TGC	p.G260C	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	260	Link 2.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GGAGCTGGGGGGTAAGTCTGG	0.592													T	19335242	G	T	19335242	3	4	165	1	0	0	0	0	1	0	0	0	10204	1246	43	5	792	5	NCAN	19	19335242	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	606009	19335242	39793741	1213	90366											
TM6SF2	53345	broad.mit.edu	37	chr19	19375644	19375644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggtaggtgaagggtgtGcgcaggtgcatggaagcccc	17	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19375644G>A	uc002nmd.1	-	10	1013	c.963C>T	c.(961-963)CGC>CGT	p.R321R	HAPLN4_uc002nmb.2_5'Flank|HAPLN4_uc002nmc.2_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	321						integral to membrane					0			Epithelial(12;0.0151)			TGAAGGGTGTGCGCAGGTGCA	0.607													A	19375644	G	A	19375644	2	1	165	1	0	0	0	0	0	0	0	1	15970	1306	46	2		2	TM6SF2	19	19375644	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	40402	19375644	39753339	1214	90367											
GATAD2A	54815	broad.mit.edu	37	chr19	19606629	19606629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgaggtgggcagcaggcgTcctcgaagctggggccacag	17	12	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19606629T>C	uc010xqt.1	+	6	1003	c.691T>C	c.(691-693)TCC>CCC	p.S231P	GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.S250P|GATAD2A_uc010xqw.1_Missense_Mutation_p.S58P	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	231					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCAGCAGGCGTCCTCGAAGCT	0.642													C	19606629	T	C	19606629	3	2	165	1	0	0	0	0	1	0	0	0	6260	1667	58	3	709	3	GATAD2A	19	19606629	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	230985	19606629	39522354	1215	90368											
ATP13A1	57130	broad.mit.edu	37	chr19	19767469	19767469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcctccaccaagtacCttcatctgtggcacggactc	6	18	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:19767469C>A	uc002nnh.3	-	7	1111	c.1083G>T	c.(1081-1083)AAG>AAT	p.K361N	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.K243N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	361	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CACCAAGTACCTTCATCTGTG	0.647													A	19767469	C	A	19767469	3	1	165	1	0	0	0	0	1	0	0	0	1123	695	24	5	2611	5	ATP13A1	19	19767469	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	160840	19767469	39361514	1216	90369											
ZNF486	90649	broad.mit.edu	37	chr19	20308172	20308172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaagaatgtggcaaagCcttcaaccggtcctcacacc	9	12	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:20308172C>T	uc002nou.2	+	4	710	c.653C>T	c.(652-654)GCC>GTC	p.A218V		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	218	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTGGCAAAGCCTTCAACCGG	0.378													T	20308172	C	T	20308172	3	4	165	1	0	0	0	0	1	0	0	0	17936	739	26	2	667	2	ZNF486	19	20308172	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	540703	20308172	38820811	1217	90370											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					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)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	165	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	1683915	21992087	37136896	1218	90371											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	165	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-CG-4305-01A-01D-1158-08	9939	22002026	37126957	1219	90372											
ZNF99	7652	broad.mit.edu	37	chr19	22940245	22940245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccactgaaaagctttaccAcattcttcacatttgtagga	6	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:22940245A>G	uc010xrh.1	-	5	2193	c.2193T>C	c.(2191-2193)TGT>TGC	p.C731C		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTACCACATTCTTCAC	0.343													G	22940245	A	G	22940245	2	3	165	1	0	0	0	0	0	0	0	1	18201	173	6	3		3	ZNF99	19	22940245	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	938219	22940245	36188738	1220	90373											
ZNF99	7652	broad.mit.edu	37	chr19	22941839	22941839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattgcttaaaagctttgCcacattcttcacatttatat	5	8	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:22941839C>T	uc010xrh.1	-	5	599	c.599G>A	c.(598-600)GGC>GAC	p.G200D		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTGCCACATTCTTC	0.348													T	22941839	C	T	22941839	3	4	165	1	0	0	0	0	1	0	0	0	18201	739	26	2	2525	2	ZNF99	19	22941839	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1594	22941839	36187144	1221	90374											
CHST8	64377	broad.mit.edu	37	chr19	34263463	34263463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctacaccaagatgctctttgTccgcgagcccttcgagaggc	10	14	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:34263463T>A	uc002nus.3	+	5	1275	c.770T>A	c.(769-771)GTC>GAC	p.V257D	CHST8_uc002nut.3_Missense_Mutation_p.V257D|CHST8_uc002nuu.2_Missense_Mutation_p.V257D	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	257	Lumenal (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					ATGCTCTTTGTCCGCGAGCCC	0.612													A	34263463	T	A	34263463	3	1	165	1	0	0	0	0	1	0	0	0	3410	1667	58	5	780	5	CHST8	19	34263463	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	11321624	34263463	24865520	1222	90375											
KCTD15	79047	broad.mit.edu	37	chr19	34302308	34302308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacttgggcgagcggatcGcactcagcggcgagaaggcc	16	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:34302308G>A	uc002nuy.3	+	6	812	c.544G>A	c.(544-546)GCA>ACA	p.A182T	KCTD15_uc002nuv.2_Missense_Mutation_p.A182T|KCTD15_uc002nuw.3_Missense_Mutation_p.A182T|KCTD15_uc010xrt.1_Missense_Mutation_p.A182T|KCTD15_uc002nux.3_Missense_Mutation_p.A182T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	182						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CGAGCGGATCGCACTCAGCGG	0.697													A	34302308	G	A	34302308	3	1	165	1	0	0	0	0	1	0	0	0	8102	1087	38	1	558	1	KCTD15	19	34302308	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	38845	34302308	24826675	1223	90376											
KIAA0355	9710	broad.mit.edu	37	chr19	34843719	34843719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgtgggccgcaaccaaCgactgcagtgccgctgcctt	12	15	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:34843719C>T	uc002nvd.3	+	14	3931	c.3072C>T	c.(3070-3072)AAC>AAT	p.N1024N		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	1024										ovary(1)	1	Esophageal squamous(110;0.162)					CCGCAACCAACGACTGCAGTG	0.652													T	34843719	C	T	34843719	2	4	165	1	0	0	0	0	0	0	0	1	8170	535	19	1		1	KIAA0355	19	34843719	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	541411	34843719	24285264	1224	90377											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	165	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	1367045	36210764	22918219	1225	90378											
NPHS1	4868	broad.mit.edu	37	chr19	36335025	36335025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcacgtccagccgcagcCgcgcttccgcggtgccctca	12	18	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:36335025C>T	uc002oby.2	-	16	2192	c.2192G>A	c.(2191-2193)CGG>CAG	p.R731Q		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	731	Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)			CAGCCGCAGCCGCGCTTCCGC	0.642													T	36335025	C	T	36335025	3	4	165	1	0	0	0	0	1	0	0	0	10582	652	23	1	1589	1	NPHS1	19	36335025	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	124261	36335025	22793958	1226	90379											
WDR62	284403	broad.mit.edu	37	chr19	36590367	36590367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctaccagccccacggcCgctgggcagagcgggccggc	16	17	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:36590367C>T	uc002odc.2	+	22	2678	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	WDR62_uc002odd.2_Missense_Mutation_p.R863C	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	863					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCACGGCCGCTGGGCAGA	0.617													T	36590367	C	T	36590367	3	4	165	1	0	0	0	0	1	0	0	0	17310	652	23	1	2673	1	WDR62	19	36590367	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	255342	36590367	22538616	1227	90380											
ZNF829	374899	broad.mit.edu	37	chr19	37382938	37382938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatcattaaggtttgagCaatacttaaaggcttttcca	8	6	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:37382938C>T	uc002ofa.1	-	6	1117	c.755G>A	c.(754-756)TGC>TAC	p.C252Y	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	252	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGTTTGAGCAATACTTAAA	0.348													T	37382938	C	T	37382938	3	4	165	1	0	0	0	0	1	0	0	0	18179	710	25	2	547	2	ZNF829	19	37382938	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	792571	37382938	21746045	1228	90381											
ZNF568	374900	broad.mit.edu	37	chr19	37441310	37441310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggtgagaaaccctatGtatgtagtgaatgtgggaaa	12	5	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:37441310G>A	uc002ofc.2	+	7	1770	c.1255G>A	c.(1255-1257)GTA>ATA	p.V419I	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.V343I|ZNF568_uc010efe.2_Missense_Mutation_p.V343I|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	419	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAACCCTATGTATGTAGTGA	0.388													A	37441310	G	A	37441310	3	1	165	1	0	0	0	0	1	0	0	0	17996	1377	48	4	1273	4	ZNF568	19	37441310	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	58372	37441310	21687673	1229	90382											
ZNF570	148268	broad.mit.edu	37	chr19	37976034	37976035	+	Frame_Shift_Ins	INS	-	-	A													ctatgaatgtaaggaatgcaINSaaaaaaccttcaggcagcat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:37976033_37976034C>CA	uc010efl.1	+	5	1796_1797	c.1677_1678C>CA	c.(1675-1680)tgcaaafs	p.C559fs	ZNF570_uc002ogk.1_Frame_Shift_Ins_p.C503fs|ZNF570_uc010xtr.1_Frame_Shift_Ins_p.C300fs	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTAAGGAATGCAAAAAAACCTT	0.446													A	37976035	-	A	37976034	7	5	165	1	0	1	1	0	0	0	0	0	17999	131	5	0	1524	0	ZNF570	19	37976034	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	534724	37976034	21152949	1230	90383											
PSMD8	5714	broad.mit.edu	37	chr19	38869929	38869929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagctcttgggcctcaacCtcctcttcctgctgtcccag	7	18	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:38869929C>A	uc002oii.3	+	4	638	c.586C>A	c.(586-588)CTC>ATC	p.L196I	PSMD8_uc010efx.1_Missense_Mutation_p.L29I	NM_002812	NP_002803	P48556	PSMD8_HUMAN	proteasome 26S non-ATPase subunit 8	196					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 regulatory particle	protein binding			central_nervous_system(1)	1	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCCTCAACCTCCTCTTCCT	0.587													A	38869929	C	A	38869929	3	1	165	1	0	0	0	0	1	0	0	0	12704	681	24	5	600	5	PSMD8	19	38869929	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	893895	38869929	20259054	1231	90384											
RYR1	6261	broad.mit.edu	37	chr19	39001390	39001390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcagcggtggccacGcctctaacaaggagaaggaa	15	10	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39001390G>A	uc002oit.2	+	60	9221	c.9091G>A	c.(9091-9093)GCC>ACC	p.A3031T	RYR1_uc002oiu.2_Missense_Mutation_p.A3031T|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3031	Cytoplasmic.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGTGGCCACGCCTCTAACAA	0.572													A	39001390	G	A	39001390	3	1	165	1	0	0	0	0	1	0	0	0	13768	1087	38	1	9329	1	RYR1	19	39001390	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	131461	39001390	20127593	1232	90385											
RYR1	6261	broad.mit.edu	37	chr19	39018400	39018400	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagtccaggaagtgtcAgccgtgctctactacctgga	12	12	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39018400A>G	uc002oit.2	+	73	10930	c.10800A>G	c.(10798-10800)TCA>TCG	p.S3600S	RYR1_uc002oiu.2_Silent_p.S3595S|RYR1_uc002oiv.1_Silent_p.S515S|RYR1_uc010xuf.1_Silent_p.S520S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3600					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAAGTGTCAGCCGTGCTCT	0.667													G	39018400	A	G	39018400	2	3	165	1	0	0	0	0	0	0	0	1	13768	175	7	3		3	RYR1	19	39018400	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	17010	39018400	20110583	1233	90386											
RINL	126432	broad.mit.edu	37	chr19	39361401	39361401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcacccgaaggcttcggTactgcctggccacgtagctg	13	14	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39361401T>C	uc002ojq.2	-	8	879	c.491A>G	c.(490-492)TAC>TGC	p.Y164C	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.Y278C	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	164							GTPase activator activity			pancreas(1)	1						AAGGCTTCGGTACTGCCTGGC	0.652													C	39361401	T	C	39361401	3	2	165	1	0	0	0	0	1	0	0	0	13375	1638	57	3	887	3	RINL	19	39361401	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	343001	39361401	19767582	1234	90387											
NFKBIB	4793	broad.mit.edu	37	chr19	39399455	39399455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcaaaacctcttcctgacGacccccgccccgtgtgattt	6	18	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39399455G>A	uc002ojw.2	+	6	1112	c.1054G>A	c.(1054-1056)GAC>AAC	p.D352N	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	352					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			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTTCCTGACGACCCCCGCCC	0.502													A	39399455	G	A	39399455	3	1	165	1	0	0	0	0	1	0	0	0	10378	1058	37	1	1124	1	NFKBIB	19	39399455	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	38054	39399455	19729528	1235	90388											
NCCRP1	342897	broad.mit.edu	37	chr19	39688716	39688716	+	Frame_Shift_Del	DEL	C	C	-													tcaacatttatgagccagcaCcccctactggtcccacccag							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39688715_39688715AC>A	uc002okq.1	+	1	379	c.360_360AC>A	c.(358-360)gcafs	p.A120fs		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	120	FBA.				protein catabolic process			p.P119Q(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ATGAGCCAGCACCCCCTACTG	0.632													-	39688716	C	-	39688716	7	5	165	1	0	1	0	1	0	0	0	0	10213	507	18	0	367	0	NCCRP1	19	39688716	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	289261	39688716	19440267	1236	90389											
SUPT5H	6829	broad.mit.edu	37	chr19	39961164	39961165	+	Splice_Site	INS	-	-	GT													agaacgggagaccttccaggINStgtgtgtgttgtgctctgtg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:39961163_39961164G>GGT	uc002olo.4	+	18	1856	c.1677_splice	c.e18+1	p.Q559_splice	SUPT5H_uc002olp.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olq.4_Splice_Site_p.Q555_splice|SUPT5H_uc002oln.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olr.4_Splice_Site_p.Q559_splice|SUPT5H_uc002ols.1_Splice_Site_p.Q182_splice|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	559					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACCTTCCAGGTGTGTGTGTT	0.614													GT	39961165	-	GT	39961164	8	5	165	1	0	1	1	0	0	0	1	0	15396	1275	44	0	1744	0	SUPT5H	19	39961164	Splice_Site	INS	-	TCGA-CG-4305-01A-01D-1158-08	272448	39961164	19167819	1237	90390											
FCGBP	8857	broad.mit.edu	37	chr19	40366105	40366105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtaggtagccactgcaGgacagaggcctccaggatgg	14	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:40366105G>T	uc002omp.3	-	30	14137	c.14129C>A	c.(14128-14130)CCT>CAT	p.P4710H		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4710						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			AGCCACTGCAGGACAGAGGCC	0.677													T	40366105	G	T	40366105	3	4	165	1	0	0	0	0	1	0	0	0	5778	1000	35	5	2116	5	FCGBP	19	40366105	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	404941	40366105	18762878	1238	90391											
FCGBP	8857	broad.mit.edu	37	chr19	40395994	40395994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcccatgaagtcgaagCggcggccatcgaaggtggtg	17	9	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:40395994C>T	uc002omp.3	-	15	7411	c.7403G>A	c.(7402-7404)CGC>CAC	p.R2468H		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2468	VWFD 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			GAAGTCGAAGCGGCGGCCATC	0.672													T	40395994	C	T	40395994	3	4	165	1	0	0	0	0	1	0	0	0	5778	768	27	1	8902	1	FCGBP	19	40395994	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	29889	40395994	18732989	1239	90392											
FCGBP	8857	broad.mit.edu	37	chr19	40421347	40421347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggtcccgaagcgatcGgggtagcagcccaggaggcc	17	12	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:40421347G>T	uc002omp.3	-	5	2582	c.2574C>A	c.(2572-2574)CCC>CCA	p.P858P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	858						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			CGAAGCGATCGGGGTAGCAGC	0.687													T	40421347	G	T	40421347	2	4	165	1	0	0	0	0	0	0	0	1	5778	1103	39	5		5	FCGBP	19	40421347	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	25353	40421347	18707636	1240	90393											
CEACAM6	4680	broad.mit.edu	37	chr19	42260595	42260597	+	In_Frame_Del	DEL	TTC	TTC	-													tgtcgcagaggggaaggaggTtcttctactcgcccacaacc					rs147420110	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:42260594_42260596GTTC>G	uc002orm.2	+	1	300_302	c.151_153GTTC>G	c.(151-153)gtt>G	p.V51del		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	51	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)		GGGGAAGGAGGTTCTTCTACTCG	0.502													-	42260597	TTC	-	42260595	7	5	165	1	0	1	0	1	0	0	0	0	3196	1725	60	0	158	0	CEACAM6	19	42260595	In_Frame_Del	DEL	TTC	TCGA-CG-4305-01A-01D-1158-08	1839248	42260595	16868388	1241	90394											
POU2F2	5452	broad.mit.edu	37	chr19	42599459	42599459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgggggctgtagctggcCggcttccctgggctgggcag	18	10	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:42599459C>T	uc002osp.2	-	11	1177	c.1110G>A	c.(1108-1110)CCG>CCA	p.P370P	POU2F2_uc002osn.2_Silent_p.P354P|POU2F2_uc002oso.2_Silent_p.P143P|POU2F2_uc002osq.2_Silent_p.P354P|POU2F2_uc002osr.1_Silent_p.P370P	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	370					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				TGTAGCTGGCCGGCTTCCCTG	0.647													T	42599459	C	T	42599459	2	4	165	1	0	0	0	0	0	0	0	1	12272	639	23	1		1	POU2F2	19	42599459	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	338864	42599459	16529524	1242	90395											
CD177	57126	broad.mit.edu	37	chr19	43866334	43866334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatcgggatcttctctgcGcgtgagaagcgtgatgtgca	13	9	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:43866334G>A	uc002owi.2	+	10	1218	c.1176G>A	c.(1174-1176)GCG>GCA	p.A392A	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	392					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				TCTTCTCTGCGCGTGAGAAGC	0.607													A	43866334	G	A	43866334	2	1	165	1	0	0	0	0	0	0	0	1	2971	1074	38	1		1	CD177	19	43866334	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1266875	43866334	15262649	1243	90396											
XRCC1	7515	broad.mit.edu	37	chr19	44057634	44057634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcctcctccttcacacGgaactggccaagcttggtca	7	16	3	0	rs143266865		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:44057634G>A	uc002owt.2	-	6	640	c.520C>T	c.(520-522)CGT>TGT	p.R174C	XRCC1_uc010xwp.1_Missense_Mutation_p.R143C	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	174					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TCCTTCACACGGAACTGGCCA	0.587								Other_BER_factors					A	44057634	G	A	44057634	3	1	165	1	0	0	0	0	1	0	0	0	17449	1116	39	1	1429	1	XRCC1	19	44057634	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	191300	44057634	15071349	1244	90397											
CADM4	199731	broad.mit.edu	37	chr19	44130298	44130298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatccagcacgtactgCgtctgcttgctgtgtccgga	11	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:44130298C>T	uc002oxc.1	-	5	691	c.642G>A	c.(640-642)ACG>ACA	p.T214T		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	214	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				GCACGTACTGCGTCTGCTTGC	0.637													T	44130298	C	T	44130298	2	4	165	1	0	0	0	0	0	0	0	1	2569	755	27	1		1	CADM4	19	44130298	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	72664	44130298	14998685	1245	90398											
ZNF227	7770	broad.mit.edu	37	chr19	44739650	44739650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccctataaatgcgaggAatgtggtaaatgctttagtc	10	6	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:44739650A>G	uc002oyu.2	+	6	1272	c.1067A>G	c.(1066-1068)GAA>GGA	p.E356G	ZNF227_uc010xwu.1_Missense_Mutation_p.E305G|ZNF227_uc002oyv.2_Missense_Mutation_p.E356G|ZNF227_uc010xwv.1_Missense_Mutation_p.E305G|ZNF227_uc010xww.1_Missense_Mutation_p.E277G|ZNF227_uc002oyw.2_Missense_Mutation_p.E328G|ZNF227_uc010ejh.2_Missense_Mutation_p.E349G|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	356	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				AAATGCGAGGAATGTGGTAAA	0.423													G	44739650	A	G	44739650	3	3	165	1	0	0	0	0	1	0	0	0	17778	246	9	3	1081	3	ZNF227	19	44739650	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	609352	44739650	14389333	1246	90399											
BCL3	602	broad.mit.edu	37	chr19	45262843	45262843	+	Frame_Shift_Del	DEL	C	C	-													gaggccctggccggccggtgCccccctccccagctccagga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:45262842_45262842GC>G	uc010xxe.2	+	8	1405	c.1335_1335GC>G	c.(1333-1335)gtgfs	p.V445fs		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	445	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)				GCCGGCCGGTGCCCCCCTCCC	0.677			T	IGH@	CLL								-	45262843	C	-	45262843	7	5	165	1	0	1	0	1	0	0	0	0	1375	739	26	0	1370	0	BCL3	19	45262843	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	523193	45262843	13866140	1247	90400											
CD3EAP	10849	broad.mit.edu	37	chr19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-													atgtgcggaagaagaagaagAaaaaaaatcagcagctgaaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:45911871_45911871GA>G	uc002pbr.1	+	2	657	c.651_651GA>G	c.(649-651)aagfs	p.K217fs	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.K215N(1)		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)		AGAAGAAGAAGAAAAAAAATC	0.587													-	45911872	A	-	45911872	7	5	165	1	0	1	0	1	0	0	0	0	3012	247	9	0	656	0	CD3EAP	19	45911872	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	649029	45911872	13217111	1248	90401											
RTN2	6253	broad.mit.edu	37	chr19	45997462	45997462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaattctaattggtccGtgctatcgaggcactgtccc	10	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:45997462G>A	uc002pcb.2	-	4	1004	c.776C>T	c.(775-777)ACG>ATG	p.T259M	RTN2_uc002pcc.2_Missense_Mutation_p.T259M|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	259						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TAATTGGTCCGTGCTATCGAG	0.537													A	45997462	G	A	45997462	3	1	165	1	0	0	0	0	1	0	0	0	13726	1145	40	1	893	1	RTN2	19	45997462	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	85590	45997462	13131521	1249	90402											
OPA3	80207	broad.mit.edu	37	chr19	46057131	46057131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtgccccggaagcccaTgatgcgcatcttggtccgca	12	15	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:46057131T>C	uc002pck.3	-	2	281	c.181A>G	c.(181-183)ATG>GTG	p.M61V	OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.M8V	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	61					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGGAAGCCCATGATGCGCATC	0.667													C	46057131	T	C	46057131	3	2	165	1	0	0	0	0	1	0	0	0	10872	1464	51	3	767	3	OPA3	19	46057131	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	59669	46057131	13071852	1250	90403											
FOXA3	3171	broad.mit.edu	37	chr19	46375340	46375340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttcccctaggtctactCgccggtgaccccagtgccca	8	17	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:46375340C>T	uc002pdr.2	+	2	274	c.77C>T	c.(76-78)TCG>TTG	p.S26L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	26					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)	1		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)		TAGGTCTACTCGCCGGTGACC	0.617													T	46375340	C	T	46375340	3	4	165	1	0	0	0	0	1	0	0	0	5991	893	31	1	83	1	FOXA3	19	46375340	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	318209	46375340	12753643	1251	90404											
ZC3H4	23211	broad.mit.edu	37	chr19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctcgctctctcctcctcctCctgctgcttctgctggatcc	6	20	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		TCCTCCTCCTCCTGCTGCTTC	0.701													G	47572412	C	G	47572412	3	3	165	1	0	0	0	0	1	0	0	0	17567	864	30	5	1584	5	ZC3H4	19	47572412	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1197072	47572412	11556571	1252	90405											
TMEM143	55260	broad.mit.edu	37	chr19	48845826	48845826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagatggcgaagagcagCagcagcagggaggtggccac	17	8	0	3	rs138171230		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:48845826C>T	uc002pix.1	-	6	945	c.936G>A	c.(934-936)CTG>CTA	p.L312L	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Silent_p.L277L|TMEM143_uc010xzn.1_Silent_p.L247L|TMEM143_uc010elw.1_Silent_p.L212L|TMEM143_uc010xzo.1_Silent_p.L102L	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	312	Helical; (Potential).					integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGAAGAGCAGCAGCAGCAGGG	0.667													T	48845826	C	T	48845826	2	4	165	1	0	0	0	0	0	0	0	1	16054	697	25	2		2	TMEM143	19	48845826	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1273414	48845826	10283157	1253	90406											
SYNGR4	23546	broad.mit.edu	37	chr19	48879533	48879533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtccccctgtctgacCgctccaaagtccccccggct	8	21	1	1	rs149839356		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:48879533C>T	uc002piz.2	+	5	908	c.663C>T	c.(661-663)ACC>ACT	p.T221T		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	221						integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTGTCTGACCGCTCCAAAGT	0.537													T	48879533	C	T	48879533	2	4	165	1	0	0	0	0	0	0	0	1	15448	639	23	1		1	SYNGR4	19	48879533	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	33707	48879533	10249450	1254	90407											
GYS1	2997	broad.mit.edu	37	chr19	49481210	49481210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatggctctcttcatcaTagtgaagtcttccttatcca	6	10	4	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:49481210T>C	uc002plp.2	-	10	1520	c.1279A>G	c.(1279-1281)ATG>GTG	p.M427V	GYS1_uc010xzy.1_Missense_Mutation_p.M60V|GYS1_uc010emm.2_Missense_Mutation_p.M363V|GYS1_uc010xzz.1_Missense_Mutation_p.M347V|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	427					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		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)		CTCTTCATCATAGTGAAGTCT	0.537													C	49481210	T	C	49481210	3	2	165	1	0	0	0	0	1	0	0	0	6912	1406	49	3	962	3	GYS1	19	49481210	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	601677	49481210	9647773	1255	90408											
KCNA7	3743	broad.mit.edu	37	chr19	49575336	49575336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgccgtcgcggtcgtcGcggaagtcaggcagcgtctc	15	15	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:49575336G>A	uc002pmg.2	-	1	863	c.507C>T	c.(505-507)CGC>CGT	p.R169R		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	169						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		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)		CGCGGTCGTCGCGGAAGTCAG	0.711													A	49575336	G	A	49575336	2	1	165	1	0	0	0	0	0	0	0	1	8008	1074	38	1		1	KCNA7	19	49575336	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	94126	49575336	9553647	1256	90409											
ALDH16A1	126133	broad.mit.edu	37	chr19	49971789	49971789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcatggtgcccagtgCggcctgtcctctgctggccc	14	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:49971789C>T	uc002pnt.2	+	15	2206	c.2090C>T	c.(2089-2091)GCG>GTG	p.A697V	ALDH16A1_uc010yar.1_Missense_Mutation_p.A646V|ALDH16A1_uc010yas.1_Missense_Mutation_p.A532V|ALDH16A1_uc010yat.1_Missense_Mutation_p.A534V	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	697							oxidoreductase activity|protein binding			skin(1)	1		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)		GTGCCCAGTGCGGCCTGTCCT	0.667													T	49971789	C	T	49971789	3	4	165	1	0	0	0	0	1	0	0	0	488	768	27	1	2148	1	ALDH16A1	19	49971789	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	396453	49971789	9157194	1257	90410											
AP2A1	160	broad.mit.edu	37	chr19	50305853	50305853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgacccagctccagctgCtgagtaaggggtggcctggg	17	11	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:50305853C>T	uc002ppn.2	+	16	2388	c.2177C>T	c.(2176-2178)GCT>GTT	p.A726V	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Intron|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.2_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	726					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			ovary(2)	2		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)		GCTCCAGCTGCTGAGTAAGGG	0.667													T	50305853	C	T	50305853	3	4	165	1	0	0	0	0	1	0	0	0	739	797	28	2	2239	2	AP2A1	19	50305853	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	334064	50305853	8823130	1258	90411											
MYBPC2	4606	broad.mit.edu	37	chr19	50957409	50957409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccccgtcggcgaggacGtggcttccatcttcctgcaa	10	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:50957409G>A	uc002psf.2	+	17	1933	c.1882G>A	c.(1882-1884)GTG>ATG	p.V628M		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	628	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGGCGAGGACGTGGCTTCCAT	0.627													A	50957409	G	A	50957409	3	1	165	1	0	0	0	0	1	0	0	0	10012	1145	40	1	1948	1	MYBPC2	19	50957409	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	651556	50957409	8171574	1259	90412											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955642	51955642	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctatgagaatcagcctctGacttctttgctggaggggtt	11	8	4	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:51955642G>A	uc002pwt.2	-	7	1558	c.1491C>T	c.(1489-1491)GTC>GTT	p.V497V	SIGLEC8_uc010yda.1_Silent_p.V388V|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Silent_p.V404V	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	497	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCAGCCTCTGACTTCTTTGC	0.318													A	51955642	G	A	51955642	2	1	165	1	0	0	0	0	0	0	0	1	14314	1277	45	4		4	SIGLEC8	19	51955642	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	998233	51955642	7173341	1260	90413											
PPP2R1A	5518	broad.mit.edu	37	chr19	52716250	52716250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcgtgcgtgaacatcGcccagcttctgccccaggag	14	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:52716250G>A	uc002pyp.2	+	6	853	c.694G>A	c.(694-696)GCC>ACC	p.A232T	PPP2R1A_uc010ydk.1_Missense_Mutation_p.A177T|PPP2R1A_uc010epm.1_Missense_Mutation_p.A272T|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A53T	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	232	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 6.|Polyoma small and medium T antigens 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			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CGTGAACATCGCCCAGCTTCT	0.652			Mis		clear cell ovarian carcinoma								A	52716250	G	A	52716250	3	1	165	1	0	0	0	0	1	0	0	0	12382	1087	38	1	716	1	PPP2R1A	19	52716250	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	760608	52716250	6412733	1261	90414											
NLRP12	91662	broad.mit.edu	37	chr19	54327438	54327438	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgtagcatgggggtgccGtgagccccaaaggagaggac	17	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:54327438G>A	uc002qch.3	-	1	211	c.-9C>T	c.(-11--7)CACGG>CATGG		NLRP12_uc002qci.3_Translation_Start_Site|NLRP12_uc002qcj.3_Translation_Start_Site|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Translation_Start_Site	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform						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			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGGGGTGCCGTGAGCCCCAA	0.592													A	54327438	G	A	54327438	1	1	165	1	0	0	0	0	0	0	0	0	10474	1160	40	1		1	NLRP12	19	54327438	Translation_Start_Site	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1611188	54327438	4801545	1262	90415											
LENG8	114823	broad.mit.edu	37	chr19	54968979	54968979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggaaagagaagcaggaCtacgcgtttgcctgcgagca	13	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:54968979C>T	uc002qfv.1	+	11	1818	c.1674C>T	c.(1672-1674)GAC>GAT	p.D558D	LENG8_uc002qfw.2_Silent_p.D595D			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	558							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGAAGCAGGACTACGCGTTTG	0.567													T	54968979	C	T	54968979	2	4	165	1	0	0	0	0	0	0	0	1	8724	564	20	4		4	LENG8	19	54968979	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	641541	54968979	4160004	1263	90416											
NLRP11	204801	broad.mit.edu	37	chr19	56303675	56303675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggagacttactgaagctcCtctaactgacaggttggaaa	11	8	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:56303675C>A	uc010ygf.1	-	9	3216	c.2505G>T	c.(2503-2505)GAG>GAT	p.E835D	NLRP11_uc002qlz.2_Missense_Mutation_p.E682D|NLRP11_uc002qmb.2_Missense_Mutation_p.E736D|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	835							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTGAAGCTCCTCTAACTGAC	0.483													A	56303675	C	A	56303675	3	1	165	1	0	0	0	0	1	0	0	0	10473	680	24	5	612	5	NLRP11	19	56303675	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1334696	56303675	2825308	1264	90417											
NLRP11	204801	broad.mit.edu	37	chr19	56303730	56303730	+	Frame_Shift_Del	DEL	T	T	-													tcacatgcaacactccgtaaTtttttaagcgattcacacac					rs71911386		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:56303729_56303729AT>A	uc010ygf.2	-	8	3162	c.2451_2451AT>T	c.(2449-2451)aatfs	p.N817fs	NLRP11_uc002qlz.3_Frame_Shift_Del_p.N664fs|NLRP11_uc002qmb.3_Frame_Shift_Del_p.N718fs|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	817							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)		ACACTCCGTAATTTTTTAAGC	0.468													-	56303730	T	-	56303730	7	5	165	1	0	1	0	1	0	0	0	0	10473	1493	52	0	667	0	NLRP11	19	56303730	Frame_Shift_Del	DEL	T	TCGA-CG-4305-01A-01D-1158-08	55	56303730	2825253	1265	90418											
ZNF71	58491	broad.mit.edu	37	chr19	57133765	57133765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagaactcctcgctcacGcagcaccagcgcatccacac	7	18	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:57133765G>A	uc002qnm.3	+	3	1348	c.1110G>A	c.(1108-1110)ACG>ACA	p.T370T		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	370	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCTCGCTCACGCAGCACCAGC	0.617													A	57133765	G	A	57133765	2	1	165	1	0	0	0	0	0	0	0	1	18111	1074	38	1		1	ZNF71	19	57133765	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	830035	57133765	1995218	1266	90419											
ZNF211	10520	broad.mit.edu	37	chr19	58152147	58152147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagtgccacagttcaGgacttccaaagaaggttcat	10	8	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:58152147G>T	uc002qpq.2	+	3	473	c.293G>T	c.(292-294)AGG>ATG	p.R98M	ZNF211_uc010yhb.1_Missense_Mutation_p.R102M|ZNF211_uc002qpp.2_Missense_Mutation_p.R111M|ZNF211_uc002qpr.2_Missense_Mutation_p.R162M|ZNF211_uc002qps.2_Missense_Mutation_p.R163M|ZNF211_uc002qpt.2_Missense_Mutation_p.R110M|ZNF211_uc010yhc.1_Missense_Mutation_p.R110M|ZNF211_uc010yhd.1_Missense_Mutation_p.R37M|ZNF211_uc010yhe.1_Missense_Mutation_p.R89M	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	98	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		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)		CCACAGTTCAGGACTTCCAAA	0.438													T	58152147	G	T	58152147	3	4	165	1	0	0	0	0	1	0	0	0	17764	1000	35	5	346	5	ZNF211	19	58152147	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1018382	58152147	976836	1267	90420											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850593	58850593	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccagaggatccacacGggagagaagccttataagtg	13	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:58850593G>T	uc002qsc.2	+	3	1524	c.1377G>T	c.(1375-1377)ACG>ACT	p.T459T	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	459					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		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)		GGATCCACACGGGAGAGAAGC	0.532													T	58850593	G	T	58850593	2	4	165	1	0	0	0	0	0	0	0	1	18231	1103	39	5		5	ZSCAN22	19	58850593	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	698446	58850593	278390	1268	90421											
ZNF446	55663	broad.mit.edu	37	chr19	58992029	58992029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcagtgactgtggccGcgccttcgactggaagtcgc	13	13	1	1	rs142233722	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr19:58992029G>A	uc002qsz.2	+	7	1406	c.1289G>A	c.(1288-1290)CGC>CAC	p.R430H	ZNF446_uc002qta.2_3'UTR|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	430	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		GACTGTGGCCGCGCCTTCGAC	0.652													A	58992029	G	A	58992029	3	1	165	1	0	0	0	0	1	0	0	0	17916	1087	38	1	1311	1	ZNF446	19	58992029	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	141436	58992029	136954	1269	90422											
CSNK2A1	1457	broad.mit.edu	37	chr20	472991	472991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgataaaactcagccaaaccCcagtctattagtcgtagctg	7	11	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:472991C>A	uc002wdw.1	-	9	921	c.528G>T	c.(526-528)TGG>TGT	p.W176C	CSNK2A1_uc002wdx.1_Missense_Mutation_p.W176C|CSNK2A1_uc002wdy.1_Missense_Mutation_p.W40C	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	176	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAGCCAAACCCCAGTCTATTA	0.393													A	472991	C	A	472991	3	1	165	1	0	0	0	0	1	0	0	0	3957	624	22	5	671	5	CSNK2A1	20	472991	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08		472991	62552529	1270	90423											
C20orf54	113278	broad.mit.edu	37	chr20	745873	745873	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgcgatgtcagtctccctCgtgggtacagggcttggtac	14	10	2	0	rs139965967	byFrequency	TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:745873C>T	uc002wed.3	-	2	885	c.546G>A	c.(544-546)ACG>ACA	p.T182T	C20orf54_uc002wee.2_Silent_p.T182T	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	182					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						CAGTCTCCCTCGTGGGTACAG	0.493													T	745873	C	T	745873	2	4	165	1	0	0	0	0	0	0	0	1	2114	871	31	1		1	C20orf54	20	745873	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	272882	745873	62279647	1271	90424											
VPS16	64601	broad.mit.edu	37	chr20	2840753	2840753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctagtgtgaggccagtgCtcgatatatactctgcttcc	10	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:2840753C>A	uc002whe.2	+	3	244	c.196C>A	c.(196-198)CTC>ATC	p.L66I	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.L66I|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	66					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						GAGGCCAGTGCTCGATATATA	0.592													A	2840753	C	A	2840753	3	1	165	1	0	0	0	0	1	0	0	0	17190	797	28	5	206	5	VPS16	20	2840753	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2094880	2840753	60184767	1272	90425											
PTPRA	5786	broad.mit.edu	37	chr20	2969091	2969091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaccggagaatggcagacGacaataagctcttcagggag	12	8	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:2969091G>A	uc010zqd.1	+	8	1059	c.742G>A	c.(742-744)GAC>AAC	p.D248N	PTPRA_uc002whj.2_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.2_Missense_Mutation_p.D228N|PTPRA_uc002whl.2_Missense_Mutation_p.D228N|PTPRA_uc002whm.2_Missense_Mutation_p.D4N|PTPRA_uc002whn.2_Missense_Mutation_p.D228N|PTPRA_uc002who.2_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	237	Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						AATGGCAGACGACAATAAGCT	0.507													A	2969091	G	A	2969091	3	1	165	1	0	0	0	0	1	0	0	0	12795	1058	37	1	731	1	PTPRA	20	2969091	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	128338	2969091	60056429	1273	90426											
MAVS	57506	broad.mit.edu	37	chr20	3838363	3838363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacccttcagcggcggcccGgctgggtggagtacttcatt	13	12	2	0	rs142867936		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:3838363G>A	uc002wjw.3	+	3	368	c.199G>A	c.(199-201)GGC>AGC	p.G67S	MAVS_uc002wjv.2_Missense_Mutation_p.G67S|MAVS_uc010zqn.1_Missense_Mutation_p.G67S|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	67	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.			GWV->AAA: Impairs ability to induce IFN- beta.	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				0						GCGGCGGCCCGGCTGGGTGGA	0.612													A	3838363	G	A	3838363	3	1	165	1	0	0	0	0	1	0	0	0	9338	1116	39	1	205	1	MAVS	20	3838363	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	869272	3838363	59187157	1274	90427											
PRNP	5621	broad.mit.edu	37	chr20	4680115	4680115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtggtggctggggacaGcctcatggtggtggctgggg	21	7	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:4680115G>A	uc002wku.2	+	2	612	c.249G>A	c.(247-249)CAG>CAA	p.Q83Q	PRNP_uc002wkv.2_Silent_p.Q83Q|PRNP_uc002wkw.2_Silent_p.Q83Q|PRNP_uc002wkx.2_Silent_p.Q83Q|PRNP_uc002wkt.1_Silent_p.Q83Q|PRNP_uc002wky.2_Silent_p.Q83Q|PRNP_uc010gbe.1_Silent_p.Q83Q	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	83	Interaction with GRB2, ERI3 and SYN1 (By similarity).|5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|4.				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(1)	1					Tetracycline(DB00759)	GCTGGGGACAGCCTCATGGTG	0.647													A	4680115	G	A	4680115	2	1	165	1	0	0	0	0	0	0	0	1	12544	962	34	2		2	PRNP	20	4680115	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	841752	4680115	58345405	1275	90428											
PRND	23627	broad.mit.edu	37	chr20	4705306	4705306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacagaatcaagtggaacCggaaggccctgcccagcact	11	13	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:4705306C>T	uc002wkz.2	+	2	180	c.109C>T	c.(109-111)CGG>TGG	p.R37W		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	37	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane					0						CAAGTGGAACCGGAAGGCCCT	0.617													T	4705306	C	T	4705306	3	4	165	1	0	0	0	0	1	0	0	0	12543	643	23	1	111	1	PRND	20	4705306	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	25191	4705306	58320214	1276	90429											
GPCPD1	56261	broad.mit.edu	37	chr20	5579450	5579450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagcatcacagcttccacAtatcgcaaaaacttctccta	3	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:5579450A>G	uc002wme.3	-	3	280	c.67T>C	c.(67-69)TGT>CGT	p.C23R		NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	23	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						CAGCTTCCACATATCGCAAAA	0.423													G	5579450	A	G	5579450	3	3	165	1	0	0	0	0	1	0	0	0	6603	217	8	3	2023	3	GPCPD1	20	5579450	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	874144	5579450	57446070	1277	90430											
PLCB4	5332	broad.mit.edu	37	chr20	9438112	9438112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaaatcaaaattcagacGctgacatcagatcacaaatc	5	10	4	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:9438112G>A	uc002wnf.2	+	32	3148	c.3012G>A	c.(3010-3012)ACG>ACA	p.T1004T	PLCB4_uc010gbw.1_Silent_p.T1004T|PLCB4_uc010gbx.2_Silent_p.T1016T|PLCB4_uc002wne.2_Silent_p.T1004T|PLCB4_uc002wnh.2_Silent_p.T851T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1004					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AAATTCAGACGCTGACATCAG	0.348													A	9438112	G	A	9438112	2	1	165	1	0	0	0	0	0	0	0	1	12030	1074	38	1		1	PLCB4	20	9438112	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3858662	9438112	53587408	1278	90431											
TASP1	55617	broad.mit.edu	37	chr20	13463963	13463963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctctagccagtatggtgCgcacaagatgctctccacat	8	12	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:13463963C>T	uc002woi.2	-	11	1013	c.896G>A	c.(895-897)CGC>CAC	p.R299H	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.R276H|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	299					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CAGTATGGTGCGCACAAGATG	0.433													T	13463963	C	T	13463963	3	4	165	1	0	0	0	0	1	0	0	0	15586	768	27	1	382	1	TASP1	20	13463963	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4025851	13463963	49561557	1279	90432											
HM13	81502	broad.mit.edu	37	chr20	30126018	30126018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcaacctcctgctgtccAtgtatttcttcgtgctggga	8	12	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:30126018A>G	uc002wwe.2	+	3	433	c.319A>G	c.(319-321)ATG>GTG	p.M107V	HM13_uc002wwc.2_Missense_Mutation_p.M107V|HM13_uc002wwd.2_Missense_Mutation_p.M107V|HM13_uc002wwb.1_Missense_Mutation_p.M107V	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	107	Helical; (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	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)			CCTGCTGTCCATGTATTTCTT	0.473													G	30126018	A	G	30126018	3	3	165	1	0	0	0	0	1	0	0	0	7217	217	8	3	329	3	HM13	20	30126018	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	16662055	30126018	32899502	1280	90433											
TTLL9	164395	broad.mit.edu	37	chr20	30521638	30521638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtggctgtgcaaaaaacaTctcccgactaccacccaaag	7	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:30521638T>C	uc010gdx.1	+	11	1037	c.784T>C	c.(784-786)TCT>CCT	p.S262P	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.S164P|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	262	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAAAAAACATCTCCCGACTA	0.607													C	30521638	T	C	30521638	3	2	165	1	0	0	0	0	1	0	0	0	16731	1435	50	3	822	3	TTLL9	20	30521638	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	395620	30521638	32503882	1281	90434											
KIF3B	9371	broad.mit.edu	37	chr20	30904022	30904022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactttgtttctcactcaggCcatggagagtaagttgcttg	10	8	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:30904022C>T	uc002wxq.2	+	3	1573	c.1406C>T	c.(1405-1407)GCC>GTC	p.A469V	KIF3B_uc010ztw.1_Missense_Mutation_p.A407V	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	469	Potential.				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			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCACTCAGGCCATGGAGAGT	0.428													T	30904022	C	T	30904022	3	4	165	1	0	0	0	0	1	0	0	0	8301	753	26	2	1412	2	KIF3B	20	30904022	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	382384	30904022	32121498	1282	90435											
ZNF341	84905	broad.mit.edu	37	chr20	32332958	32332958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagaagcaattcaactcGctgccagcgtttatgaccca	8	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:32332958G>A	uc002wzy.2	+	3	212	c.192G>A	c.(190-192)TCG>TCA	p.S64S	ZNF341_uc002wzx.2_Silent_p.S64S|ZNF341_uc010geq.2_Intron|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	64	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AATTCAACTCGCTGCCAGCGT	0.562													A	32332958	G	A	32332958	2	1	165	1	0	0	0	0	0	0	0	1	17854	1074	38	1		1	ZNF341	20	32332958	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1428936	32332958	30692562	1283	90436											
NCOA6	23054	broad.mit.edu	37	chr20	33342667	33342667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgggaggcgtttaggCattccttaatagaaaacaat	11	7	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:33342667C>T	uc002xav.2	-	9	4104	c.1533G>A	c.(1531-1533)ATG>ATA	p.M511I	NCOA6_uc002xaw.2_Missense_Mutation_p.M511I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	511	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						GGCGTTTAGGCATTCCTTAAT	0.463													T	33342667	C	T	33342667	3	4	165	1	0	0	0	0	1	0	0	0	10233	710	25	2	4690	2	NCOA6	20	33342667	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1009709	33342667	29682853	1284	90437											
CPNE1	8904	broad.mit.edu	37	chr20	34218826	34218826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcaggtactcacgagTcatagtcctgaaccacgctg	11	11	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:34218826T>C	uc002xdf.2	-	13	1355	c.992A>G	c.(991-993)GAC>GGC	p.D331G	CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.D336G|CPNE1_uc002xde.2_Missense_Mutation_p.D307G|CPNE1_uc002xdg.2_Missense_Mutation_p.D331G|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.D331G|CPNE1_uc002xdi.2_Missense_Mutation_p.D331G|CPNE1_uc002xdj.2_Missense_Mutation_p.D331G|CPNE1_uc002xdk.2_Missense_Mutation_p.D331G|CPNE1_uc002xdl.2_Missense_Mutation_p.D331G|CPNE1_uc002xdm.2_Missense_Mutation_p.D331G|CPNE1_uc010gfk.1_3'UTR	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	331	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TACTCACGAGTCATAGTCCTG	0.562													C	34218826	T	C	34218826	3	2	165	1	0	0	0	0	1	0	0	0	3811	1667	58	3	645	3	CPNE1	20	34218826	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	876159	34218826	28806694	1285	90438											
C20orf117	140710	broad.mit.edu	37	chr20	35433186	35433186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctctgtctcccaggtagcCttggccttggcaaactgttg	11	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:35433186C>A	uc002xgd.1	-	10	2652	c.2325G>T	c.(2323-2325)AAG>AAT	p.K775N	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	775											0		Myeloproliferative disorder(115;0.00874)				CCCAGGTAGCCTTGGCCTTGG	0.617													A	35433186	C	A	35433186	3	1	165	1	0	0	0	0	1	0	0	0	2083	680	24	5	2032	5	C20orf117	20	35433186	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1214360	35433186	27592334	1286	90439											
RPRD1B	58490	broad.mit.edu	37	chr20	36686021	36686021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcagctactctcctcAggatccttctgcaggacccc	8	18	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:36686021A>G	uc002xho.3	+	4	905	c.503A>G	c.(502-504)CAG>CGG	p.Q168R		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Regulation of nuclear pre-mRNA domain containing	168										pancreas(1)	1						TACTCTCCTCAGGATCCTTCT	0.493											OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	36686021	A	G	36686021	3	3	165	1	0	0	0	0	1	0	0	0	13616	188	7	3	517	3	RPRD1B	20	36686021	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1252835	36686021	26339499	1287	90440											
SLC32A1	140679	broad.mit.edu	37	chr20	37356284	37356284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccatagccaacgcctgcTgcgccccgcgcttcccaacg	10	19	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:37356284T>G	uc002xjc.2	+	2	843	c.580T>G	c.(580-582)TGC>GGC	p.C194G		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	194	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CAACGCCTGCTGCGCCCCGCG	0.632													G	37356284	T	G	37356284	3	3	165	1	0	0	0	0	1	0	0	0	14565	1580	55	5	586	5	SLC32A1	20	37356284	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	670263	37356284	25669236	1288	90441											
CHD6	84181	broad.mit.edu	37	chr20	40102126	40102126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggcgcaggtttccccGtactcgcccatcaattcgct	9	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:40102126G>A	uc002xka.1	-	17	2678	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	CHD6_uc002xkd.2_Missense_Mutation_p.R812W	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	834	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AGGTTTCCCCGTACTCGCCCA	0.532													A	40102126	G	A	40102126	3	1	165	1	0	0	0	0	1	0	0	0	3329	1144	40	1	5731	1	CHD6	20	40102126	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2745842	40102126	22923394	1289	90442											
PTPRT	11122	broad.mit.edu	37	chr20	40713354	40713354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtacgtccctccctcccGtcatactgctcctgccactt	5	19	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:40713354G>A	uc002xkg.2	-	29	4288	c.4104C>T	c.(4102-4104)GAC>GAT	p.D1368D	PTPRT_uc010ggj.2_Silent_p.D1387D|PTPRT_uc010ggi.2_Silent_p.D571D	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1368	Cytoplasmic (Potential).|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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTCCCTCCCGTCATACTGCT	0.602													A	40713354	G	A	40713354	2	1	165	1	0	0	0	0	0	0	0	1	12812	1136	40	1		1	PTPRT	20	40713354	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	611228	40713354	22312166	1290	90443											
PTPRT	11122	broad.mit.edu	37	chr20	40747077	40747077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtttgtgaccatgacgAtgctggcggagttctcctgc	13	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:40747077A>G	uc002xkg.2	-	21	3132	c.2948T>C	c.(2947-2949)ATC>ACC	p.I983T	PTPRT_uc010ggj.2_Missense_Mutation_p.I1002T|PTPRT_uc010ggi.2_Missense_Mutation_p.I186T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	983	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACCATGACGATGCTGGCGGA	0.517													G	40747077	A	G	40747077	3	3	165	1	0	0	0	0	1	0	0	0	12812	333	12	3	1421	3	PTPRT	20	40747077	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	33723	40747077	22278443	1291	90444											
WISP2	8839	broad.mit.edu	37	chr20	43355865	43355865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccagaaccgcttctgcCgactggagacccagcgccgc	10	18	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:43355865C>T	uc002xmn.2	+	5	1023	c.670C>T	c.(670-672)CGA>TGA	p.R224*	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Nonsense_Mutation_p.R224*|WISP2_uc002xmq.2_Silent_p.A141A	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	224	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCGCTTCTGCCGACTGGAGAC	0.677													T	43355865	C	T	43355865	4	4	165	1	0	0	0	0	0	1	0	0	17370	644	23	1	684	1	WISP2	20	43355865	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2608788	43355865	19669655	1292	90445											
PABPC1L	80336	broad.mit.edu	37	chr20	43566708	43566708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttccacacaggggagcGtctctacccccttatccatg	10	14	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:43566708G>A	uc010ggv.1	+	13	1734	c.1652G>A	c.(1651-1653)CGT>CAT	p.R551H	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.R105H|PABPC1L_uc002xmx.2_Missense_Mutation_p.R105H	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	551	PABC.						nucleotide binding|RNA binding			ovary(1)	1						ACAGGGGAGCGTCTCTACCCC	0.577													A	43566708	G	A	43566708	3	1	165	1	0	0	0	0	1	0	0	0	11364	1145	40	1	1702	1	PABPC1L	20	43566708	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	210843	43566708	19458812	1293	90446											
KCNS1	3787	broad.mit.edu	37	chr20	43727255	43727255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgccacccacgttcacgCgcagcgcctcgtcgcttcgc	10	20	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:43727255C>T	uc002xnc.2	-	4	555	c.158G>A	c.(157-159)CGC>CAC	p.R53H	KCNS1_uc002xnd.2_Missense_Mutation_p.R53H	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	53	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CACGTTCACGCGCAGCGCCTC	0.751													T	43727255	C	T	43727255	3	4	165	1	0	0	0	0	1	0	0	0	8088	768	27	1	1430	1	KCNS1	20	43727255	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	160547	43727255	19298265	1294	90447											
CTSA	5476	broad.mit.edu	37	chr20	44523668	44523668	+	Frame_Shift_Del	DEL	C	C	-													ggggataaagtgcgcatggaCcccccctgcaccaacacaac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:44523667_44523667AC>A	uc002xqh.3	+	10	1411	c.1037_1037AC>A	c.(1036-1038)gacfs	p.D346fs	CTSA_uc002xqj.4_Frame_Shift_Del_p.D328fs|CTSA_uc010zxi.2_Frame_Shift_Del_p.D329fs|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	328					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)				GTGCGCATGGACCCCCCCTGC	0.637													-	44523668	C	-	44523668	7	5	165	1	0	1	0	1	0	0	0	0	4029	506	18	0	1080	0	CTSA	20	44523668	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	796413	44523668	18501852	1295	90448											
SLC2A10	81031	broad.mit.edu	37	chr20	45354636	45354636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcctcgtcagctttgccGtgcccatggactcaggccca	11	15	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:45354636G>A	uc002xsl.2	+	2	1058	c.961G>A	c.(961-963)GTG>ATG	p.V321M		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	321	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CAGCTTTGCCGTGCCCATGGA	0.657													A	45354636	G	A	45354636	3	1	165	1	0	0	0	0	1	0	0	0	14539	1145	40	1	967	1	SLC2A10	20	45354636	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	830968	45354636	17670884	1296	90449											
NCOA3	8202	broad.mit.edu	37	chr20	46251037	46251037	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccactggccagtgattcaCgaaaacgcaaattgccatgt	8	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:46251037C>T	uc002xtk.2	+	3	251	c.46C>T	c.(46-48)CGA>TGA	p.R16*	NCOA3_uc010ght.1_Nonsense_Mutation_p.R16*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.R16*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.R16*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.R16*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	16					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			ovary(3)|lung(1)|skin(1)	5						CAGTGATTCACGAAAACGCAA	0.383													T	46251037	C	T	46251037	4	4	165	1	0	0	0	0	0	1	0	0	10230	528	19	1	48	1	NCOA3	20	46251037	Nonsense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	896401	46251037	16774483	1297	90450											
ARFGEF2	10564	broad.mit.edu	37	chr20	47630223	47630223	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagatgcaagttagatgtAcgaacaaggtaaccatgttc	9	6	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:47630223A>G	uc002xtx.3	+	29	4193	c.4041A>G	c.(4039-4041)GTA>GTG	p.V1347V	ARFGEF2_uc010zyf.1_Silent_p.V640V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1347					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTTAGATGTACGAACAAGGT	0.488													G	47630223	A	G	47630223	2	3	165	1	0	0	0	0	0	0	0	1	853	378	14	3		3	ARFGEF2	20	47630223	Silent	SNP	A	TCGA-CG-4305-01A-01D-1158-08	1379186	47630223	15395297	1298	90451											
ZNFX1	57169	broad.mit.edu	37	chr20	47886982	47886982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaagttgtccttggacAtgcataccaaagacccatag	8	11	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:47886982A>G	uc002xui.2	-	3	1614	c.1367T>C	c.(1366-1368)ATG>ACG	p.M456T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	456							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTCCTTGGACATGCATACCAA	0.458													G	47886982	A	G	47886982	3	3	165	1	0	0	0	0	1	0	0	0	18202	217	8	3	4437	3	ZNFX1	20	47886982	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	256759	47886982	15138538	1299	90452											
NFATC2	4773	broad.mit.edu	37	chr20	50133480	50133480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaagtggagggagggatGcagtcactgggatgctaaag	16	6	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:50133480G>A	uc002xwd.2	-	3	1395	c.1175C>T	c.(1174-1176)GCA>GTA	p.A392V	NFATC2_uc002xwc.2_Missense_Mutation_p.A392V|NFATC2_uc010zyv.1_Missense_Mutation_p.A173V|NFATC2_uc010zyw.1_Missense_Mutation_p.A173V|NFATC2_uc010zyx.1_Missense_Mutation_p.A372V|NFATC2_uc010zyy.1_Missense_Mutation_p.A173V|NFATC2_uc010zyz.1_Missense_Mutation_p.A173V|NFATC2_uc002xwe.2_Missense_Mutation_p.A372V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	392	RHD.				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			ovary(2)	2	Hepatocellular(150;0.248)					AGGGAGGGATGCAGTCACTGG	0.493													A	50133480	G	A	50133480	3	1	165	1	0	0	0	0	1	0	0	0	10362	1319	46	2	1682	2	NFATC2	20	50133480	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2246498	50133480	12892040	1300	90453											
ZFP64	55734	broad.mit.edu	37	chr20	50769032	50769032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcagcaggacagccgGctgggtcattgcgcccgcct	16	13	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:50769032G>A	uc002xwl.2	-	6	2048	c.1699C>T	c.(1699-1701)CCG>TCG	p.P567S	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.P565S|ZFP64_uc002xwn.2_Missense_Mutation_p.P513S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGACAGCCGGCTGGGTCATT	0.682													A	50769032	G	A	50769032	3	1	165	1	0	0	0	0	1	0	0	0	17649	1203	42	2	1541	2	ZFP64	20	50769032	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	635552	50769032	12256488	1301	90454											
ZFP64	55734	broad.mit.edu	37	chr20	50769441	50769441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcatgaaggaggcatcGcatatatcgcagtggaaact	11	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:50769441G>A	uc002xwl.2	-	6	1639	c.1290C>T	c.(1288-1290)TGC>TGT	p.C430C	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.C428C|ZFP64_uc002xwn.2_Silent_p.C376C	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	430	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGAGGCATCGCATATATCGC	0.562													A	50769441	G	A	50769441	2	1	165	1	0	0	0	0	0	0	0	1	17649	1079	38	1		1	ZFP64	20	50769441	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	409	50769441	12256079	1302	90455											
BCAS1	8537	broad.mit.edu	37	chr20	52645024	52645024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggcttcctgttggctGtcacctggcaccttttcctg	9	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:52645024G>A	uc002xws.2	-	4	968	c.630C>T	c.(628-630)GAC>GAT	p.D210D	BCAS1_uc010zzb.1_Silent_p.D113D|BCAS1_uc010gim.2_Silent_p.D113D|BCAS1_uc002xwt.2_Silent_p.D210D|BCAS1_uc010gil.1_Silent_p.D210D|BCAS1_uc010zzc.1_Silent_p.D113D	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	210						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	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)			CCTGTTGGCTGTCACCTGGCA	0.547													A	52645024	G	A	52645024	2	1	165	1	0	0	0	0	0	0	0	1	1350	1368	48	4		4	BCAS1	20	52645024	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1875583	52645024	10380496	1303	90456											
MC3R	4159	broad.mit.edu	37	chr20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacgtcaccatcttttacgCgctccgctaccacagcatca	6	16	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:54824345C>T	uc002xxb.2	+	1	558	c.446C>T	c.(445-447)GCG>GTG	p.A149V		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	186	Cytoplasmic (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582													T	54824345	C	T	54824345	3	4	165	1	0	0	0	0	1	0	0	0	9365	768	27	1	448	1	MC3R	20	54824345	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2179321	54824345	8201175	1304	90457											
ZNF831	128611	broad.mit.edu	37	chr20	57766220	57766221	+	Frame_Shift_Ins	INS	-	-	C													ccgccagagcagggcctggcINScccccccactgtgttcctga							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:57766219_57766220G>GC	uc002yan.3	+	0	145_146	c.145_146G>GC	c.(145-147)gccfs	p.A49fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(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)					GCAGGGCCTGGCCCCCCCCACT	0.728													C	57766221	-	C	57766220	7	5	165	1	0	1	1	0	0	0	0	0	18182	739	26	0	148	0	ZNF831	20	57766220	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	2941875	57766220	5259300	1305	90458											
ZNF831	128611	broad.mit.edu	37	chr20	57766684	57766684	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaactcccggctgtccTcagagtccgagggcgccggg	13	15	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:57766684T>A	uc002yan.2	+	1	610	c.610T>A	c.(610-612)TCA>ACA	p.S204T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	204						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCGGCTGTCCTCAGAGTCCGA	0.677													A	57766684	T	A	57766684	3	1	165	1	0	0	0	0	1	0	0	0	18182	1551	54	5	612	5	ZNF831	20	57766684	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	464	57766684	5258836	1306	90459											
PHACTR3	116154	broad.mit.edu	37	chr20	58348477	58348477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcattgaggagctgcacAgggcgctggccacgaagcac	15	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58348477A>G	uc002yau.2	+	6	1362	c.895A>G	c.(895-897)AGG>GGG	p.R299G	PHACTR3_uc002yat.2_Missense_Mutation_p.R296G|PHACTR3_uc010zzw.1_Missense_Mutation_p.R258G|PHACTR3_uc002yav.2_Missense_Mutation_p.R258G|PHACTR3_uc002yaw.2_Missense_Mutation_p.R258G|PHACTR3_uc002yax.2_Missense_Mutation_p.R188G	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	299						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGAGCTGCACAGGGCGCTGGC	0.687													G	58348477	A	G	58348477	3	3	165	1	0	0	0	0	1	0	0	0	11811	179	7	3	917	3	PHACTR3	20	58348477	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	581793	58348477	4677043	1307	90460											
SYCP2	10388	broad.mit.edu	37	chr20	58457178	58457178	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagtaacattaacaaAggtagtcttcagttttctgt	7	6	4	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58457178A>C	uc002yaz.2	-	26	2711	c.2572T>G	c.(2572-2574)TTT>GTT	p.F858V		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	858					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTAACAAAGGTAGTCTTC	0.199													C	58457178	A	C	58457178	3	2	165	1	0	0	0	0	1	0	0	0	15429	72	3	5	2096	5	SYCP2	20	58457178	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	108701	58457178	4568342	1308	90461											
SYCP2	10388	broad.mit.edu	37	chr20	58490556	58490556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggttagagagtattttcCgggcatcttgaggcattttg	12	6	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58490556C>T	uc002yaz.2	-	8	702	c.563G>A	c.(562-564)CGG>CAG	p.R188Q	SYCP2_uc010gju.1_Missense_Mutation_p.R89Q	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	188					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GAGTATTTTCCGGGCATCTTG	0.274													T	58490556	C	T	58490556	3	4	165	1	0	0	0	0	1	0	0	0	15429	652	23	1	4177	1	SYCP2	20	58490556	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	33378	58490556	4534964	1309	90462											
C20orf177	63939	broad.mit.edu	37	chr20	58519297	58519297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaagtgatctctctgattCggaaagaattcccattcctc	7	11	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:58519297C>T	uc002yba.2	+	5	714	c.299C>T	c.(298-300)TCG>TTG	p.S100L	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Missense_Mutation_p.S100L	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	100										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			CTCTCTGATTCGGAAAGAATT	0.428													T	58519297	C	T	58519297	3	4	165	1	0	0	0	0	1	0	0	0	2096	893	31	1	301	1	C20orf177	20	58519297	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	28741	58519297	4506223	1310	90463											
OGFR	11054	broad.mit.edu	37	chr20	61441914	61441914	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctcacgctcagggaggtCgaggtgagccaggccttggc	15	14	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:61441914C>T	uc002ydj.2	+	5	497	c.462C>T	c.(460-462)GTC>GTT	p.V154V	OGFR_uc002ydk.2_Silent_p.V137V|OGFR_uc002ydl.2_Silent_p.V102V	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	154					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					TCAGGGAGGTCGAGGTGAGCC	0.622													T	61441914	C	T	61441914	2	4	165	1	0	0	0	0	0	0	0	1	10843	871	31	1		1	OGFR	20	61441914	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2922617	61441914	1583606	1311	90464											
COL20A1	57642	broad.mit.edu	37	chr20	61950424	61950424	+	Frame_Shift_Del	DEL	C	C	-													ccacagtgacgtctacccagCccccctacctccagagcaca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:61950423_61950423GC>G	uc011aau.2	+	21	2777	c.2677_2677GC>G	c.(2677-2679)gccfs	p.A893fs	COL20A1_uc011aav.2_Frame_Shift_Del_p.A714fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	893	TSP N-terminal.				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)					CGTCTACCCAGCCCCCCTACC	0.647													-	61950424	C	-	61950424	7	5	165	1	0	1	0	1	0	0	0	0	3679	739	26	0	2760	0	COL20A1	20	61950424	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	508510	61950424	1075096	1312	90465											
PRIC285	85441	broad.mit.edu	37	chr20	62203577	62203577	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgcgcagtggttctcgaaGgcctcctgagagtggcaggt	16	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:62203577G>T	uc002yfm.2	-	2	1054	c.162C>A	c.(160-162)GCC>GCA	p.A54A	PRIC285_uc002yfn.2_Silent_p.A54A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	54	C2H2-type; atypical.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGTTCTCGAAGGCCTCCTGAG	0.701													T	62203577	G	T	62203577	2	4	165	1	0	0	0	0	0	0	0	1	12485	987	35	5		5	PRIC285	20	62203577	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	253153	62203577	821943	1313	90466											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62373487	62373487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgttgctgcagagccCggcccaggtcatgttccagt	12	15	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:62373487C>T	uc002ygq.2	+	5	639	c.584C>T	c.(583-585)CCG>CTG	p.P195L	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.P90L|SLC2A4RG_uc011abj.1_Missense_Mutation_p.P90L|SLC2A4RG_uc002ygs.2_5'UTR|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	195						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTGCAGAGCCCGGCCCAGGTC	0.677													T	62373487	C	T	62373487	3	4	165	1	0	0	0	0	1	0	0	0	14547	652	23	1	602	1	SLC2A4RG	20	62373487	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	169910	62373487	652033	1314	90467											
OPRL1	4987	broad.mit.edu	37	chr20	62729726	62729726	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttcatcgtccccgtgctCgtcatctctgtctgctacag	7	16	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr20:62729726C>T	uc002yic.2	+	5	1089	c.687C>T	c.(685-687)CTC>CTT	p.L229L	OPRL1_uc002yid.2_Silent_p.L229L|OPRL1_uc002yif.3_Silent_p.L224L	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	229	Helical; Name=5; (Potential).				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)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCCCCGTGCTCGTCATCTCTG	0.617													T	62729726	C	T	62729726	2	4	165	1	0	0	0	0	0	0	0	1	10886	871	31	1		1	OPRL1	20	62729726	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	356239	62729726	295794	1315	90468											
NRIP1	8204	broad.mit.edu	37	chr21	16339612	16339612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttcttgcaatctggccAtagcagcaagtctttcactt	6	11	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:16339612A>G	uc002yjx.2	-	4	1500	c.902T>C	c.(901-903)ATG>ACG	p.M301T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	301	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				0				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)		CAATCTGGCCATAGCAGCAAG	0.443													G	16339612	A	G	16339612	3	3	165	1	0	0	0	0	1	0	0	0	10652	217	8	3	2578	3	NRIP1	21	16339612	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08		16339612	31790283	1316	90469											
MRPL39	54148	broad.mit.edu	37	chr21	26979736	26979736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttgatcccgccaccggGtgcgaccagccagagccgca	11	17	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:26979736G>A	uc002ylo.2	-	1	66	c.52C>T	c.(52-54)CCC>TCC	p.P18S	MRPL39_uc002yln.2_Missense_Mutation_p.P18S	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	18						mitochondrial ribosome	nucleotide binding				0						CCGCCACCGGGTGCGACCAGC	0.662											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	26979736	G	A	26979736	3	1	165	1	0	0	0	0	1	0	0	0	9802	1261	44	4	1097	4	MRPL39	21	26979736	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	10640124	26979736	21150159	1317	90470											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338229	28338229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctttagggtgtagcgcGcgtgcttgaccgcgaagaag	17	8	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:28338229G>A	uc002ymg.2	-	1	1211	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	161					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GGTGTAGCGCGCGTGCTTGAC	0.642													A	28338229	G	A	28338229	3	1	165	1	0	0	0	0	1	0	0	0	269	1087	38	1	2342	1	ADAMTS5	21	28338229	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1358493	28338229	19791666	1318	90471											
IFNAR2	3455	broad.mit.edu	37	chr21	34635606	34635606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagcccctctgatgctatCgtctcatctggaagagatgg	11	10	3	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:34635606C>T	uc002yrd.2	+	9	1677	c.1349C>T	c.(1348-1350)TCG>TTG	p.S450L	IFNAR2_uc002yre.2_Missense_Mutation_p.S450L|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	450	Cytoplasmic (Potential).				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				0					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)	CTGATGCTATCGTCTCATCTG	0.493													T	34635606	C	T	34635606	3	4	165	1	0	0	0	0	1	0	0	0	7545	893	31	1	1539	1	IFNAR2	21	34635606	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6297377	34635606	13494289	1319	90472											
IFNAR1	3454	broad.mit.edu	37	chr21	34726001	34726001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgcattatttgctctccCgtttgtcatttatgctgcga	7	9	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:34726001C>T	uc002yrn.2	+	10	1499	c.1352C>T	c.(1351-1353)CCG>CTG	p.P451L	IFNAR1_uc011adv.1_Missense_Mutation_p.P382L	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	451	Helical; (Potential).				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			central_nervous_system(1)|skin(1)	2					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)	TTTGCTCTCCCGTTTGTCATT	0.318													T	34726001	C	T	34726001	3	4	165	1	0	0	0	0	1	0	0	0	7544	652	23	1	1390	1	IFNAR1	21	34726001	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	90395	34726001	13403894	1320	90473											
DOPEY2	9980	broad.mit.edu	37	chr21	37583892	37583892	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggactcaaatgttctTgtgcaaagaaataatctgga	9	6	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:37583892T>C	uc002yvg.2	+	6	802	c.723T>C	c.(721-723)CTT>CTC	p.L241L	DOPEY2_uc011aeb.1_Silent_p.L241L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	241					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAAATGTTCTTGTGCAAAGAA	0.398													C	37583892	T	C	37583892	2	2	165	1	0	0	0	0	0	0	0	1	4708	1799	63	3		3	DOPEY2	21	37583892	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2857891	37583892	10546003	1321	90474											
BRWD1	54014	broad.mit.edu	37	chr21	40559024	40559025	+	Frame_Shift_Ins	INS	-	-	T													tattaatatcttctagctctINSttttcactttcagaatttat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:40559023_40559024C>CT	uc002yxk.2	-	41	7186_7187	c.6891_6892G>AG	c.(6889-6894)aaagagfs	p.K2297fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.K940fs|BRWD1_uc021wjf.1_3'UTR	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	2297					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)				TCTTCTAGCTCTTTTTCACTTT	0.356													T	40559025	-	T	40559024	7	5	165	1	0	1	1	0	0	0	0	0	1525	1606	56	0	75	0	BRWD1	21	40559024	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	2975132	40559024	7570871	1322	90475											
IGSF5	150084	broad.mit.edu	37	chr21	41151197	41151197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtggctgcaactgctGctgccgttgttgtttctgct	12	9	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:41151197G>A	uc002yyo.2	+	5	1002	c.899G>A	c.(898-900)TGC>TAC	p.C300Y		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	300	Cytoplasmic (Potential).|Cys-rich.					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				tgcaactgctgctgccgttgt	0.259													A	41151197	G	A	41151197	3	1	165	1	0	0	0	0	1	0	0	0	7602	1319	46	2	917	2	IGSF5	21	41151197	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	592173	41151197	6978698	1323	90476											
RIPK4	54101	broad.mit.edu	37	chr21	43161140	43161140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcggccaggtgcagcGcgctgagcccctgctcgtcg	16	16	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:43161140G>T	uc002yzn.1	-	8	2261	c.2213C>A	c.(2212-2214)GCG>GAG	p.A738E		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	738						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CAGGTGCAGCGCGCTGAGCCC	0.687													T	43161140	G	T	43161140	3	4	165	1	0	0	0	0	1	0	0	0	13383	1087	38	5	145	5	RIPK4	21	43161140	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2009943	43161140	4968755	1324	90477											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047615	46047615	+	Frame_Shift_Del	DEL	C	C	-													gccagcttgctgcacttcctCcccctgccagcagtcctact							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:46047614_46047614TC>T	uc002zfp.4	+	0	575	c.526_526TC>T	c.(526-528)tccfs	p.S176fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	176	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCACTTCCTCCCCCTGCCA	0.587													-	46047615	C	-	46047615	7	5	165	1	0	1	0	1	0	0	0	0	8516	855	30	0	529	0	KRTAP10-9	21	46047615	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	2886475	46047615	2082280	1325	90478											
COL6A2	1292	broad.mit.edu	37	chr21	47537842	47537842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggggagcgaggagaccaaGgcggcaaggtaagtggcctt	18	8	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:47537842G>T	uc002zia.1	+	12	1190	c.1108G>T	c.(1108-1110)GGC>TGC	p.G370C	COL6A2_uc002zhy.1_Missense_Mutation_p.G370C|COL6A2_uc002zhz.1_Missense_Mutation_p.G370C|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	370	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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGGAGACCAAGGCGGCAAGGT	0.682													T	47537842	G	T	47537842	3	4	165	1	0	0	0	0	1	0	0	0	3700	1000	35	5	1150	5	COL6A2	21	47537842	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1490227	47537842	592053	1326	90479											
C21orf56	84221	broad.mit.edu	37	chr21	47581501	47581501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaactcgctgaacgccGggtgcacgtcgcggctgtag	16	11	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:47581501G>A	uc011afu.1	-	5	1877	c.815C>T	c.(814-816)CCG>CTG	p.P272L	C21orf56_uc002zii.2_Missense_Mutation_p.P118L	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN	hypothetical protein LOC84221 isoform 1	272							protein binding			skin(1)	1	Breast(49;0.214)			Colorectal(79;0.241)		GCTGAACGCCGGGTGCACGTC	0.697													A	47581501	G	A	47581501	3	1	165	1	0	0	0	0	1	0	0	0	2127	1116	39	1	211	1	C21orf56	21	47581501	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	43659	47581501	548394	1327	90480											
PCNT	5116	broad.mit.edu	37	chr21	47863768	47863768	+	Frame_Shift_Del	DEL	C	C	-													tccacccagaaccagagagtCccccccaacccgggatgtac							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr21:47863767_47863767TC>T	uc002zji.4	+	44	9852	c.9745_9745TC>T	c.(9745-9747)tccfs	p.S3249fs	PCNT_uc002zjj.3_Frame_Shift_Del_p.S3052fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3249					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	p.T3252fs*84(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)					AACCAGAGAGTCCCCCCCAAC	0.577													-	47863768	C	-	47863768	7	5	165	1	0	1	0	1	0	0	0	0	11590	855	30	0	9924	0	PCNT	21	47863768	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	282267	47863768	266127	1328	90481											
ARVCF	421	broad.mit.edu	37	chr22	19965533	19965533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagggcatgcaggagcGcgtccaccagcccttcacac	11	16	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:19965533G>A	uc002zqz.2	-	8	1917	c.1646C>T	c.(1645-1647)GCG>GTG	p.A549V	ARVCF_uc002zqy.2_Missense_Mutation_p.A71V	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	549	ARM 5.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					ATGCAGGAGCGCGTCCACCAG	0.657													A	19965533	G	A	19965533	3	1	165	1	0	0	0	0	1	0	0	0	1003	1087	38	1	1290	1	ARVCF	22	19965533	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		19965533	31339033	1329	90482											
PI4KA	5297	broad.mit.edu	37	chr22	21098990	21098990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcacacaggccgggcGctcgctcagctgagttgcct	11	14	3	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:21098990G>A	uc002zsz.3	-	30	3439	c.3208C>T	c.(3208-3210)CGC>TGC	p.R1070C		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1070					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.R1070L(1)		lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			CAGGCCGGGCGCTCGCTCAGC	0.527													A	21098990	G	A	21098990	3	1	165	1	0	0	0	0	1	0	0	0	11873	1087	38	1	3030	1	PI4KA	22	21098990	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1133457	21098990	30205576	1330	90483											
SERPIND1	3053	broad.mit.edu	37	chr22	21134357	21134357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcccagatagctgacTtctcagaccctgccttcata	8	14	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:21134357T>G	uc002ztb.1	+	2	824	c.757T>G	c.(757-759)TTC>GTC	p.F253V	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.F281V	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	253					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	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)	GATAGCTGACTTCTCAGACCC	0.433													G	21134357	T	G	21134357	3	3	165	1	0	0	0	0	1	0	0	0	14110	1609	56	5	759	5	SERPIND1	22	21134357	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	35367	21134357	30170209	1331	90484											
SMARCB1	6598	broad.mit.edu	37	chr22	24135859	24135859	+	Frame_Shift_Del	DEL	C	C	-													ctgtgtccatcagcacagagCcccccacctacctcaggtaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:24135858_24135858GC>G	uc002zyd.3	+	2	525	c.318_318GC>G	c.(316-318)gagfs	p.E106fs	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.E115fs|SMARCB1_uc011ajb.1_Frame_Shift_Del_p.E106fs|SMARCB1_uc002zya.3_Frame_Shift_Del_p.E115fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.E115fs|SMARCB1_uc002zyc.3_Frame_Shift_Del_p.E106fs|SMARCB1_uc002zye.1_Frame_Shift_Del_p.E78fs|SMARCB1_uc002zyf.1_Non-coding_Transcript|SMARCB1_uc010gue.1_Intron	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	115	DNA-binding (Potential).				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCAGCACAGAGCCCCCCACCT	0.532			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							-	24135859	C	-	24135859	7	5	165	1	0	1	0	1	0	0	0	0	14774	739	26	0	356	0	SMARCB1	22	24135859	Frame_Shift_Del	DEL	C	TCGA-CG-4305-01A-01D-1158-08	3001502	24135859	27168707	1332	90485											
MN1	4330	broad.mit.edu	37	chr22	28196398	28196398	+	Frame_Shift_Del	DEL	G	G	-													tagcaggatccacagggccaGggggccccccagtgtggaaa							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:28196397_28196397AG>A	uc003adj.3	-	0	1090	c.135_135CT>T	c.(133-135)cctfs	p.P45fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	45							binding	p.P45fs*8(1)|p.P44R(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						CCACAGGGCCAGGGGGCCCCC	0.642			T	ETV6	"AML, meningioma"								-	28196398	G	-	28196398	7	5	165	1	0	1	0	1	0	0	0	0	9673	1000	35	0	3836	0	MN1	22	28196398	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	4060539	28196398	23108168	1333	90486											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951162	30951162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcggcggcgtccacggcGtggcccccgtcgatgcagat	16	14	0	1	rs146972531		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:30951162G>A	uc003aig.1	-	4	1190	c.1050C>T	c.(1048-1050)CAC>CAT	p.H350H	GAL3ST1_uc003aih.1_Silent_p.H350H|GAL3ST1_uc003aii.1_Silent_p.H350H|GAL3ST1_uc010gvz.1_Silent_p.H350H	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	350	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CGTCCACGGCGTGGCCCCCGT	0.706													A	30951162	G	A	30951162	2	1	165	1	0	0	0	0	0	0	0	1	6197	1136	40	1		1	GAL3ST1	22	30951162	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	2754764	30951162	20353404	1334	90487											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859740	31859740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtccttatcgctaagaCggtgatccttctcaaaggtc	10	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:31859740C>T	uc003akz.1	-	5	676	c.512G>A	c.(511-513)CGT>CAT	p.R171H	EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R171H|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	171	Arg-rich.					nucleus	protein binding|protein transporter activity			ovary(1)	1						ATCGCTAAGACGGTGATCCTT	0.458													T	31859740	C	T	31859740	3	4	165	1	0	0	0	0	1	0	0	0	5035	536	19	1	2508	1	EIF4ENIF1	22	31859740	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	908578	31859740	19444826	1335	90488											
DEPDC5	9681	broad.mit.edu	37	chr22	32272206	32272206	+	Frame_Shift_Del	DEL	G	G	-													cctggcggaccttcatctacGgcttctatttctacaagata							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:32272205_32272205CG>C	uc011alu.2	+	36	3961	c.3759_3759CG>C	c.(3757-3759)tacfs	p.Y1253fs	DEPDC5_uc011als.2_Frame_Shift_Del_p.Y1153fs|DEPDC5_uc003als.3_Frame_Shift_Del_p.Y1222fs|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Frame_Shift_Del_p.Y1244fs|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Frame_Shift_Del_p.Y671fs|DEPDC5_uc003alw.3_Frame_Shift_Del_p.Y520fs|DEPDC5_uc011alx.2_Frame_Shift_Del_p.Y70fs|DEPDC5_uc010gwk.3_Frame_Shift_Del_p.Y248fs|DEPDC5_uc011aly.2_Frame_Shift_Del_p.Y70fs	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1222					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						CCTTCATCTACGGCTTCTATT	0.507													-	32272206	G	-	32272206	7	5	165	1	0	1	0	1	0	0	0	0	4442	1116	39	0	3893	0	DEPDC5	22	32272206	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	412466	32272206	19032360	1336	90489											
HMOX1	3162	broad.mit.edu	37	chr22	35783051	35783051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccttccccaacattgCcagtgccaccaagttcaagc	5	17	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:35783051C>T	uc003ant.1	+	3	598	c.518C>T	c.(517-519)GCC>GTC	p.A173V		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	173					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	CCCAACATTGCCAGTGCCACC	0.602													T	35783051	C	T	35783051	3	4	165	1	0	0	0	0	1	0	0	0	7243	739	26	2	528	2	HMOX1	22	35783051	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3510845	35783051	15521515	1337	90490											
APOL2	23780	broad.mit.edu	37	chr22	36624266	36624266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcgtggcggtttttgtcCttcatgaccatgtgacttgc	10	9	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:36624266C>T	uc003aoz.2	-	5	534	c.198G>A	c.(196-198)AAG>AAA	p.K66K	APOL2_uc011amm.1_Silent_p.K178K|APOL2_uc003apa.2_Silent_p.K66K	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	66					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				0						GGTTTTTGTCCTTCATGACCA	0.463													T	36624266	C	T	36624266	2	4	165	1	0	0	0	0	0	0	0	1	806	680	24	4		4	APOL2	22	36624266	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	841215	36624266	14680300	1338	90491											
MYH9	4627	broad.mit.edu	37	chr22	36682871	36682871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtgtcatccagctcgcGcatgcagtccttcatctggg	13	13	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:36682871G>A	uc003apg.2	-	35	5185	c.4954C>T	c.(4954-4956)CGC>TGC	p.R1652C		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1652	Potential.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCCAGCTCGCGCATGCAGTCC	0.627			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36682871	G	A	36682871	3	1	165	1	0	0	0	0	1	0	0	0	10042	1087	38	1	956	1	MYH9	22	36682871	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	58605	36682871	14621695	1339	90492											
CSF2RB	1439	broad.mit.edu	37	chr22	37325725	37325725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcccaggccaccctgggGccagagcacctcatgcccag	10	19	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:37325725G>A	uc003aqa.3	+	6	811	c.594G>A	c.(592-594)GGG>GGA	p.G198G	CSF2RB_uc003aqc.3_Silent_p.G198G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	198	Fibronectin type-III 1.|Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	CCACCCTGGGGCCAGAGCACC	0.682													A	37325725	G	A	37325725	2	1	165	1	0	0	0	0	0	0	0	1	3935	1190	42	2		2	CSF2RB	22	37325725	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	642854	37325725	13978841	1340	90493											
GCAT	23464	broad.mit.edu	37	chr22	38212245	38212245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgctggcttcactatctCgggagccagtcaccccatct	9	15	4	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:38212245C>T	uc003atz.2	+	8	1045	c.1025C>T	c.(1024-1026)TCG>TTG	p.S342L	GCAT_uc003aua.1_Missense_Mutation_p.S368L	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	342					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCACTATCTCGGGAGCCAGT	0.592													T	38212245	C	T	38212245	3	4	165	1	0	0	0	0	1	0	0	0	6284	893	31	1	1133	1	GCAT	22	38212245	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	886520	38212245	13092321	1341	90494											
TAB1	10454	broad.mit.edu	37	chr22	39826095	39826095	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagctctgacggaggcctCttccgctcccggcccgccca	10	20	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:39826095C>A	uc003axt.2	+	11	1432	c.1383C>A	c.(1381-1383)CTC>CTA	p.L461L	TAB1_uc003axr.2_Silent_p.L537L|TAB1_uc011aok.1_Silent_p.L295L|TAB1_uc003axu.1_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	461					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)	1						ACGGAGGCCTCTTCCGCTCCC	0.647													A	39826095	C	A	39826095	2	1	165	1	0	0	0	0	0	0	0	1	15492	900	32	5		5	TAB1	22	39826095	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1613850	39826095	11478471	1342	90495											
SGSM3	27352	broad.mit.edu	37	chr22	40802507	40802507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctatcggatatcccgtcGcagatggaggacgcggagct	14	11	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:40802507G>A	uc003ayu.1	+	10	1235	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S	SGSM3_uc010gyc.1_3'UTR|SGSM3_uc011aos.1_Silent_p.S275S|SGSM3_uc011aot.1_Silent_p.S279S|SGSM3_uc010gyd.1_Silent_p.S342S	NM_015705	NP_056520	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			ovary(2)	2						ATATCCCGTCGCAGATGGAGG	0.642													A	40802507	G	A	40802507	2	1	165	1	0	0	0	0	0	0	0	1	14224	1074	38	1		1	SGSM3	22	40802507	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	976412	40802507	10502059	1343	90496											
DNAJB7	150353	broad.mit.edu	37	chr22	41257517	41257517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcatgccccaatgaaCcctgtgatgtatatcctgta	8	12	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:41257517C>T	uc003azj.2	-	1	614	c.482G>A	c.(481-483)GGT>GAT	p.G161D	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	161					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						CCCCAATGAACCCTGTGATGT	0.383													T	41257517	C	T	41257517	3	4	165	1	0	0	0	0	1	0	0	0	4625	507	18	4	451	4	DNAJB7	22	41257517	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	455010	41257517	10047049	1344	90497											
EFCAB6	64800	broad.mit.edu	37	chr22	43926824	43926824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcagagtaaaaagatggCgtctccgcgccggcttcttt	12	10	2	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:43926824C>T	uc003bdy.1	-	31	4469	c.4254G>A	c.(4252-4254)ACG>ACA	p.T1418T	EFCAB6_uc003bdz.1_Silent_p.T1266T|EFCAB6_uc010gzi.1_Silent_p.T1266T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1418	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				AAAAAGATGGCGTCTCCGCGC	0.483													T	43926824	C	T	43926824	2	4	165	1	0	0	0	0	0	0	0	1	4939	755	27	1		1	EFCAB6	22	43926824	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2669307	43926824	7377742	1345	90498											
FBLN1	2192	broad.mit.edu	37	chr22	45996204	45996204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgtcgtgcgccaggtgCggcccatcgtgggcccattt	15	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:45996204C>T	uc003bgj.1	+	17	2137	c.1990C>T	c.(1990-1992)CGG>TGG	p.R664W	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	664					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCGCCAGGTGCGGCCCATCGT	0.557													T	45996204	C	T	45996204	3	4	165	1	0	0	0	0	1	0	0	0	5698	759	27	1	2536	1	FBLN1	22	45996204	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	2069380	45996204	5308362	1346	90499											
TBC1D22A	25771	broad.mit.edu	37	chr22	47193446	47193446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactctcagcagctcagCgctgagcgaaagagaggcct	12	13	2	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:47193446C>T	uc003bib.2	+	4	701	c.566C>T	c.(565-567)GCG>GTG	p.A189V	TBC1D22A_uc010haf.2_Missense_Mutation_p.A159V|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.A142V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	189						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		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)		AGCAGCTCAGCGCTGAGCGAA	0.652											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47193446	C	T	47193446	3	4	165	1	0	0	0	0	1	0	0	0	15608	768	27	1	580	1	TBC1D22A	22	47193446	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1197242	47193446	4111120	1347	90500											
ZBED4	9889	broad.mit.edu	37	chr22	50279870	50279870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacctgctgagcctcgccCggaagatctgcgagcgggtg	15	12	1	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50279870C>T	uc003bix.2	+	2	3030	c.2560C>T	c.(2560-2562)CGG>TGG	p.R854W		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	854						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		GAGCCTCGCCCGGAAGATCTG	0.627													T	50279870	C	T	50279870	3	4	165	1	0	0	0	0	1	0	0	0	17517	643	23	1	2562	1	ZBED4	22	50279870	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3086424	50279870	1024696	1348	90501											
MLC1	23209	broad.mit.edu	37	chr22	50523291	50523291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctccagcgtgggcatcCggtcataggccagctcctct	11	17	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50523291C>T	uc003bjg.1	-	2	314	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	MLC1_uc011arl.1_Missense_Mutation_p.R14Q|MLC1_uc003bjh.1_Missense_Mutation_p.R14Q|MLC1_uc011arm.1_Missense_Mutation_p.R14Q|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Missense_Mutation_p.R14Q	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	14						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		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)		CGTGGGCATCCGGTCATAGGC	0.627													T	50523291	C	T	50523291	3	4	165	1	0	0	0	0	1	0	0	0	9612	652	23	1	1136	1	MLC1	22	50523291	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	243421	50523291	781275	1349	90502											
MOV10L1	54456	broad.mit.edu	37	chr22	50591566	50591566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaactcgaggtctgtgcGgaccccacagtggtgacctc	14	12	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50591566G>A	uc003bjj.2	+	22	3068	c.2985G>A	c.(2983-2985)GCG>GCA	p.A995A	MOV10L1_uc003bjk.3_Silent_p.A995A|MOV10L1_uc011arp.1_Silent_p.A975A|MOV10L1_uc003bjl.2_Silent_p.A122A|MOV10L1_uc003bjm.1_Silent_p.A38A	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	995					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		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)		AGGTCTGTGCGGACCCCACAG	0.582													A	50591566	G	A	50591566	2	1	165	1	0	0	0	0	0	0	0	1	9719	1103	39	1		1	MOV10L1	22	50591566	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	68275	50591566	713000	1350	90503											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656171	50656171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcagagcagcctcaggcGtcctggtagtagttgttgaa	13	11	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50656171G>A	uc003bkb.1	-	25	5966	c.5454C>T	c.(5452-5454)GAC>GAT	p.D1818D	TUBGCP6_uc003bka.1_Silent_p.D888D|TUBGCP6_uc010har.1_Silent_p.D1810D|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1818					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		AGCCTCAGGCGTCCTGGTAGT	0.622													A	50656171	G	A	50656171	2	1	165	1	0	0	0	0	0	0	0	1	16767	1136	40	1		1	TUBGCP6	22	50656171	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	64605	50656171	648395	1351	90504											
PLXNB2	23654	broad.mit.edu	37	chr22	50721871	50721872	+	In_Frame_Ins	INS	-	-	GAA													cagcctcgatcacacacacgINSatcctggcgggcgacaggca							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chr22:50721870_50721871C>CGAA	uc003bkv.4	-	15	2667_2668	c.2574_2575G>TTCG	c.(2572-2577)atcgtg>atTTCGtg	p.V859S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	859	IPT/TIG 1.				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)		ATCACACACACGATCCTGGCGG	0.668													GAA	50721872	-	GAA	50721871	7	5	165	1	0	1	1	0	0	0	0	0	12124	1048	37	0	3030	0	PLXNB2	22	50721871	In_Frame_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	65700	50721871	582695	1352	90505											
PLCXD1	55344	broad.mit.edu	37	chrX	200930	200930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgaggactggatgtcgGcactgtgtccccggctctgg	14	13	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:200930G>A	uc004cpc.2	+	2	388	c.76G>A	c.(76-78)GCA>ACA	p.A26T	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	26					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		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)				CTGGATGTCGGCACTGTGTCC	0.642													A	200930	G	A	200930	3	1	165	1	0	0	0	0	1	0	0	0	12041	1203	42	2	78	2	PLCXD1	23	200930	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08		200930	155069630	1353	90506											
KAL1	3730	broad.mit.edu	37	chrX	8504917	8504917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagtgactttttggccGtattggttggacagtcacct	12	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:8504917G>A	uc004csf.2	-	11	1666	c.1516C>T	c.(1516-1518)CGG>TGG	p.R506W		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	506	Fibronectin type-III 3.				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			ovary(3)|pancreas(1)	4						CTTTTTGGCCGTATTGGTTGG	0.443													A	8504917	G	A	8504917	3	1	165	1	0	0	0	0	1	0	0	0	7974	1144	40	1	542	1	KAL1	23	8504917	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	8303987	8504917	146765643	1354	90507											
WWC3	55841	broad.mit.edu	37	chrX	10046875	10046875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaaatacaaagtatgaccCacaccaaattaaagcagaaa	4	9	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:10046875C>A	uc004csx.3	+	4	455	c.257C>A	c.(256-258)CCA>CAA	p.P86Q	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_5'Flank	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	86	Potential.									ovary(4)	4						AAGTATGACCCACACCAAATT	0.378													A	10046875	C	A	10046875	3	1	165	1	0	0	0	0	1	0	0	0	17410	594	21	5	267	5	WWC3	23	10046875	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1541958	10046875	145223685	1355	90508											
ARHGAP6	395	broad.mit.edu	37	chrX	11682500	11682500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggatgctggaagcgcttCggctactggctggcccggcc	16	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:11682500C>T	uc004cup.1	-	1	1322	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.R150Q	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	150					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			urinary_tract(1)|lung(1)	2						GGAAGCGCTTCGGCTACTGGC	0.622													T	11682500	C	T	11682500	3	4	165	1	0	0	0	0	1	0	0	0	887	884	31	1	2649	1	ARHGAP6	23	11682500	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1635625	11682500	143588060	1356	90509											
ASB9	140462	broad.mit.edu	37	chrX	15287932	15287932	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtttgaaagaagcctgAtgccaggaaagtcccttggc	13	8	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:15287932A>C	uc004cwl.2	-	1	312	c.65T>G	c.(64-66)ATC>AGC	p.I22S	ASB9_uc004cwk.2_Missense_Mutation_p.I22S|ASB9_uc004cwm.2_Missense_Mutation_p.I22S|ASB9_uc010ner.2_Missense_Mutation_p.I22S|ASB9_uc004cwn.2_Missense_Mutation_p.I22S	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	22					intracellular signal transduction						0	Hepatocellular(33;0.183)					AAGAAGCCTGATGCCAGGAAA	0.582													C	15287932	A	C	15287932	3	2	165	1	0	0	0	0	1	0	0	0	1030	333	12	5	876	5	ASB9	23	15287932	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	3605432	15287932	139982628	1357	90510											
SYAP1	94056	broad.mit.edu	37	chrX	16773179	16773179	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggccgcagggaaggaggaGaagagcaatggcagagagca	18	7	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:16773179G>A	uc004cxp.2	+	6	780	c.687G>A	c.(685-687)GAG>GAA	p.E229E	SYAP1_uc004cxo.2_Silent_p.E229E|SYAP1_uc011miv.1_Silent_p.E195E	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	229										skin(1)	1	Hepatocellular(33;0.0997)					GGAAGGAGGAGAAGAGCAATG	0.517													A	16773179	G	A	16773179	2	1	165	1	0	0	0	0	0	0	0	1	15423	933	33	4		4	SYAP1	23	16773179	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1485247	16773179	138497381	1358	90511											
SCML2	10389	broad.mit.edu	37	chrX	18278348	18278348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctttatataacatgccacGgtctctggtcagcgatttta	7	9	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18278348G>A	uc004cyl.2	-	9	1169	c.1012C>T	c.(1012-1014)CGT>TGT	p.R338C	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.R338C|SCML2_uc011miz.1_Missense_Mutation_p.R272C|SCML2_uc010nfc.2_Missense_Mutation_p.R74C	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	338					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					AACATGCCACGGTCTCTGGTC	0.338													A	18278348	G	A	18278348	3	1	165	1	0	0	0	0	1	0	0	0	13910	1116	39	1	1118	1	SCML2	23	18278348	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	1505169	18278348	136992212	1359	90512											
PPEF1	5475	broad.mit.edu	37	chrX	18836177	18836177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatactatggaaaacaGcgccatcaagatattaagag	10	6	1	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18836177G>A	uc004cyq.2	+	16	1896	c.1415G>A	c.(1414-1416)AGC>AAC	p.S472N	PPEF1_uc004cyp.2_Missense_Mutation_p.S444N|PPEF1_uc004cyr.2_Missense_Mutation_p.S410N|PPEF1_uc004cys.2_Missense_Mutation_p.S472N|PPEF1_uc011mja.1_Missense_Mutation_p.S407N|PPEF1_uc011mjb.1_Missense_Mutation_p.S416N	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	472					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				0	Hepatocellular(33;0.183)					ATGGAAAACAGCGCCATCAAG	0.333													A	18836177	G	A	18836177	3	1	165	1	0	0	0	0	1	0	0	0	12307	971	34	2	1465	2	PPEF1	23	18836177	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	557829	18836177	136434383	1360	90513											
PHKA2	5256	broad.mit.edu	37	chrX	18949781	18949781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaacagcgagctgaggAtgtacaaggattggccccac	12	12	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18949781A>G	uc004cyv.3	-	12	1653	c.1223T>C	c.(1222-1224)ATC>ACC	p.I408T		NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	408					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					CGAGCTGAGGATGTACAAGGA	0.527											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	18949781	A	G	18949781	3	3	165	1	0	0	0	0	1	0	0	0	11844	333	12	3	2572	3	PHKA2	23	18949781	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	113604	18949781	136320779	1361	90514											
PHKA2	5256	broad.mit.edu	37	chrX	18969342	18969342	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttgtacttggcgtgcaGgctgtccttggtgctctgag	16	8	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:18969342G>T	uc004cyv.3	-	4	764	c.334C>A	c.(334-336)CTG>ATG	p.L112M	PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Missense_Mutation_p.L54M	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	112					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TTGGCGTGCAGGCTGTCCTTG	0.602													T	18969342	G	T	18969342	3	4	165	1	0	0	0	0	1	0	0	0	11844	991	35	5	3493	5	PHKA2	23	18969342	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	19561	18969342	136301218	1362	90515											
SMPX	23676	broad.mit.edu	37	chrX	21772423	21772424	+	Splice_Site	INS	-	-	A													ttcatgcagtcttatccctaINSaaaaaacaagtaagaaactg							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:21772422_21772423T>TA	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAAG	0.411													A	21772424	-	A	21772423	8	5	165	1	0	1	1	0	0	0	1	0	14810	377	13	0		0	SMPX	23	21772423	Splice_Site	INS	-	TCGA-CG-4305-01A-01D-1158-08	2803081	21772423	133498137	1363	90516											
FAM47A	158724	broad.mit.edu	37	chrX	34148723	34148723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctttgggaggctccGggtggagactggacacccga	17	10	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:34148723G>A	uc004ddg.2	-	1	1706	c.1673C>T	c.(1672-1674)CCG>CTG	p.P558L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	558										ovary(4)|central_nervous_system(1)	5						GGGAGGCTCCGGGTGGAGACT	0.582													A	34148723	G	A	34148723	3	1	165	1	0	0	0	0	1	0	0	0	5569	1116	39	1	706	1	FAM47A	23	34148723	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	12376300	34148723	121121837	1364	90517											
FAM47C	442444	broad.mit.edu	37	chrX	37026602	37026602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcacaggcgcctgaggtTcccgcctgtggacacccaga	12	15	0	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:37026602T>C	uc004ddl.1	+	1	133	c.119T>C	c.(118-120)TTC>TCC	p.F40S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	40										ovary(3)	3						CGCCTGAGGTTCCCGCCTGTG	0.607													C	37026602	T	C	37026602	3	2	165	1	0	0	0	0	1	0	0	0	5571	1783	62	3	121	3	FAM47C	23	37026602	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2877879	37026602	118243958	1365	90518											
KDM6A	7403	broad.mit.edu	37	chrX	44918711	44918711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacgaattaagtatttacaGgtaaaatttttaaatggcag	8	4	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:44918711G>T	uc004dge.3	+	12	1569	c.1194G>T	c.(1192-1194)CAG>CAT	p.Q398H	KDM6A_uc010nhk.2_Missense_Mutation_p.Q398H|KDM6A_uc011mkz.1_Missense_Mutation_p.Q398H|KDM6A_uc011mla.1_Missense_Mutation_p.Q398H|KDM6A_uc011mlb.1_Missense_Mutation_p.Q398H|KDM6A_uc011mlc.1_Missense_Mutation_p.Q147H|KDM6A_uc011mld.1_Missense_Mutation_p.Q64H	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	398					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AGTATTTACAGGTAAAATTTT	0.393			D|N|F|S		renal|oesophageal SCC|MM								T	44918711	G	T	44918711	3	4	165	1	0	0	0	0	1	0	0	0	8137	1014	35	5	1240	5	KDM6A	23	44918711	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	7892109	44918711	110351849	1366	90519											
KCND1	3750	broad.mit.edu	37	chrX	48826374	48826374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgtgggcaatgcagcCgccccgttcggtagaagttc	13	14	0	1	rs147541534		TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:48826374C>T	uc004dlx.1	-	1	1878	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	102	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						GCAATGCAGCCGCCCCGTTCG	0.577													T	48826374	C	T	48826374	3	4	165	1	0	0	0	0	1	0	0	0	8018	652	23	1	1662	1	KCND1	23	48826374	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	3907663	48826374	106444186	1367	90520											
MAGIX	79917	broad.mit.edu	37	chrX	49022484	49022484	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgcagcagcagcactTccctagttcagcaccctcca	8	17	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:49022484T>A	uc010nin.1	+	6	798	c.751T>A	c.(751-753)TCC>ACC	p.S251T	MAGIX_uc010nio.1_Missense_Mutation_p.S175T|MAGIX_uc004dmt.2_Missense_Mutation_p.S170T|MAGIX_uc004dmu.2_Missense_Mutation_p.S192T|MAGIX_uc004dmw.2_Missense_Mutation_p.S179T	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked isoform a	251											0						CAGCAGCACTTCCCTAGTTCA	0.647													A	49022484	T	A	49022484	3	1	165	1	0	0	0	0	1	0	0	0	9193	1783	62	5	813	5	MAGIX	23	49022484	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	196110	49022484	106248076	1368	90521											
GSPT2	23708	broad.mit.edu	37	chrX	51488294	51488294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggacgcacgtttgatgtTcagatagtgattattgagca	11	6	2	4			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:51488294T>C	uc004dpl.2	+	1	1798	c.1572T>C	c.(1570-1572)GTT>GTC	p.V524V		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	524					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					CGTTTGATGTTCAGATAGTGA	0.403													C	51488294	T	C	51488294	2	2	165	1	0	0	0	0	0	0	0	1	6827	1770	62	3		3	GSPT2	23	51488294	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	2465810	51488294	103782266	1369	90522											
ZXDA	7789	broad.mit.edu	37	chrX	57935575	57935575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtcatattgcttgctgCagccagggaaagagcaggaa	12	9	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:57935575C>T	uc004dve.2	-	1	1493	c.1280G>A	c.(1279-1281)TGC>TAC	p.C427Y		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	427	C2H2-type 6.|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			ovary(1)	1						TTGCTTGCTGCAGCCAGGGAA	0.502													T	57935575	C	T	57935575	3	4	165	1	0	0	0	0	1	0	0	0	18247	710	25	2	1123	2	ZXDA	23	57935575	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6447281	57935575	97334985	1370	90523											
ZC4H2	55906	broad.mit.edu	37	chrX	64139033	64139033	+	Frame_Shift_Del	DEL	G	G	-													gcggccagggactcagggatGgggggctcctgaggttctgt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:64139033delG	uc004dvu.2	-	4	538	c.450delC	c.(448-450)CCCfs	p.P150fs	ZC4H2_uc004dvv.2_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mov.1_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	150							metal ion binding|protein binding			ovary(1)	1						ACTCAGGGATGGGGGGCTCCT	0.572													-	64139033	G	-	64139033	7	5	165	1	0	1	0	1	0	0	0	0	17575	1335	47	0	251	0	ZC4H2	23	64139033	Frame_Shift_Del	DEL	G	TCGA-CG-4305-01A-01D-1158-08	6203458	64139033	91131527	1371	90524											
SLC7A3	84889	broad.mit.edu	37	chrX	70148313	70148313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccatctaacctataggTgtcattgagttcagccatgg	10	9	3	2			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:70148313T>C	uc004dyn.2	-	4	858	c.700A>G	c.(700-702)ACC>GCC	p.T234A	SLC7A3_uc004dyo.2_Missense_Mutation_p.T234A	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	234	Helical; Name=6; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AACCTATAGGTGTCATTGAGT	0.493													C	70148313	T	C	70148313	3	2	165	1	0	0	0	0	1	0	0	0	14698	1696	59	3	1195	3	SLC7A3	23	70148313	Missense_Mutation	SNP	T	TCGA-CG-4305-01A-01D-1158-08	6009280	70148313	85122247	1372	90525											
SLC16A2	6567	broad.mit.edu	37	chrX	73641744	73641744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgcggcaccgcgcgcgGcttccagcctcccgaaggtg	14	18	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:73641744G>A	uc004ebt.2	+	1	660	c.494G>A	c.(493-495)GGC>GAC	p.G165D		NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	91	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	ACCGCGCGCGGCTTCCAGCCT	0.677													A	73641744	G	A	73641744	3	1	165	1	0	0	0	0	1	0	0	0	14408	1203	42	2	496	2	SLC16A2	23	73641744	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	3493431	73641744	81628816	1373	90526											
BRWD3	254065	broad.mit.edu	37	chrX	79942445	79942446	+	Frame_Shift_Ins	INS	-	-	T													ctcaatagttccttgcattgINSttttttccaagcatcaggat							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:79942445_79942446insT	uc004edt.2	-	35	4184_4185	c.3921_3922insA	c.(3919-3924)AAACAAfs	p.K1307fs	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edp.2_Frame_Shift_Ins_p.K1136fs|BRWD3_uc004edq.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc010nmj.1_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edr.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eds.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edu.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004edv.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edw.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edx.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edy.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edz.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eea.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eeb.2_Frame_Shift_Ins_p.K903fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1307_1308										ovary(4)	4						TCCTTGCATTGTTTTTTCCAAG	0.386													T	79942446	-	T	79942445	7	5	165	1	0	1	1	0	0	0	0	0	1526	1386	48	0	1514	0	BRWD3	23	79942445	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	6300701	79942445	75328115	1374	90527	442	2									
BRWD3	254065	broad.mit.edu	37	chrX	79942446	79942447	+	Frame_Shift_Ins	INS	-	-	T													tcaatagttccttgcattgtINStttttccaagcatcaggatt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:79942445_79942446G>GT	uc004edt.3	-	34	4184_4185	c.3921_3922C>AC	c.(3919-3924)aaacaafs	p.K1307fs	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Frame_Shift_Ins_p.K1136fs|BRWD3_uc004edq.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc010nmj.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edr.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eds.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edo.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edu.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004edv.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edw.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edx.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edy.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edz.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eea.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eeb.3_Frame_Shift_Ins_p.K903fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1307										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						TCCTTGCATTGTTTTTTCCAAG	0.386													T	79942447	-	T	79942446	7	5	165	1	0	1	1	0	0	0	0	0	1526	1722	60	0	1515	0	BRWD3	23	79942446	Frame_Shift_Ins	INS	-	TCGA-CG-4305-01A-01D-1158-08	1	79942446	75328114	1375	90528	442	2									
SATL1	340562	broad.mit.edu	37	chrX	84362935	84362935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcggtggacctggttggCttatgcttgcttcactcagg	14	9	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:84362935C>T	uc011mqx.1	-	1	1040	c.1040G>A	c.(1039-1041)AGC>AAC	p.S347N	SATL1_uc004een.2_Missense_Mutation_p.S347N	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	160	Gln-rich.						N-acetyltransferase activity			breast(2)	2						ACCTGGTTGGCTTATGCTTGC	0.547													T	84362935	C	T	84362935	3	4	165	1	0	0	0	0	1	0	0	0	13855	797	28	2	878	2	SATL1	23	84362935	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	4420489	84362935	70907625	1376	90529											
CHM	1121	broad.mit.edu	37	chrX	85219036	85219036	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagtgcaccagcttcttcGacatcttcatgcaaatcctg	7	13	3	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:85219036G>A	uc004eet.2	-	5	366	c.336C>T	c.(334-336)GTC>GTT	p.V112V	CHM_uc011mqz.1_5'UTR	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	112					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				CAGCTTCTTCGACATCTTCAT	0.398													A	85219036	G	A	85219036	2	1	165	1	0	0	0	0	0	0	0	1	3350	1045	37	1		1	CHM	23	85219036	Silent	SNP	G	TCGA-CG-4305-01A-01D-1158-08	856101	85219036	70051524	1377	90530											
CSTF2	1478	broad.mit.edu	37	chrX	100079177	100079177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccagtccatggtgcTgggcctggctcaggatccaa	12	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:100079177T>C	uc004egh.2	+	6	691	c.633T>C	c.(631-633)GCT>GCC	p.A211A	CSTF2_uc010nnd.2_Silent_p.A211A|CSTF2_uc004egi.2_Silent_p.A211A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	211	Interactions with CSTF3 and SYMPK.|Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						TCCATGGTGCTGGGCCTGGCT	0.478													C	100079177	T	C	100079177	2	2	165	1	0	0	0	0	0	0	0	1	3984	1567	55	3		3	CSTF2	23	100079177	Silent	SNP	T	TCGA-CG-4305-01A-01D-1158-08	14860141	100079177	55191383	1378	90531											
TCEAL6	158931	broad.mit.edu	37	chrX	101396012	101396012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctccagccgggcgcttttCggcggcccgcggctggccct	14	17	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:101396012C>T	uc004eiq.2	-	3	453	c.292G>A	c.(292-294)GAA>AAA	p.E98K		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGGCGCTTTTCGGCGGCCCGC	0.612													T	101396012	C	T	101396012	3	4	165	1	0	0	0	0	1	0	0	0	15672	893	31	1	263	1	TCEAL6	23	101396012	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	1316835	101396012	53874548	1379	90532											
GPRASP2	114928	broad.mit.edu	37	chrX	101972170	101972170	+	Frame_Shift_Del	DEL	A	A	-													cagaatatcagtaacattatAaaaagtggaaagatgtcctt							TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:101972170delA	uc004ejk.2	+	4	3707	c.2373delA	c.(2371-2373)ATAfs	p.I791fs	GPRASP2_uc004ejl.2_Frame_Shift_Del_p.I791fs|GPRASP2_uc004ejm.2_Frame_Shift_Del_p.I791fs|GPRASP2_uc011mrp.1_Frame_Shift_Del_p.I130fs	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	791						cytoplasm	protein binding			ovary(1)	1						GTAACATTATAAAAAGTGGAA	0.323													-	101972170	A	-	101972170	7	5	165	1	0	1	0	1	0	0	0	0	6723	352	13	0	2375	0	GPRASP2	23	101972170	Frame_Shift_Del	DEL	A	TCGA-CG-4305-01A-01D-1158-08	576158	101972170	53298390	1380	90533											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632528	102632528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcctgcaggaaatcgaCggggacaggctcgccgactt	13	13	0	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:102632528C>T	uc004eki.2	+	3	491	c.109C>T	c.(109-111)CGG>TGG	p.R37W	NGFRAP1_uc004ekh.2_Missense_Mutation_p.R27W|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R37W	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	37					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						AGGAAATCGACGGGGACAGGC	0.522													T	102632528	C	T	102632528	3	4	165	1	0	0	0	0	1	0	0	0	10397	527	19	1	111	1	NGFRAP1	23	102632528	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	660358	102632528	52638032	1381	90534											
FAM199X	139231	broad.mit.edu	37	chrX	103434328	103434328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttacagcagaaggccttcCgcaagaggcagctgaaggag	14	9	0	3			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:103434328C>T	uc004elw.2	+	6	1202	c.1036C>T	c.(1036-1038)CGC>TGC	p.R346C	FAM199X_uc004elx.2_Missense_Mutation_p.R120C	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	346										ovary(1)	1						GAAGGCCTTCCGCAAGAGGCA	0.483													T	103434328	C	T	103434328	3	4	165	1	0	0	0	0	1	0	0	0	5530	652	23	1	1058	1	FAM199X	23	103434328	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	801800	103434328	51836232	1382	90535											
SLC6A14	11254	broad.mit.edu	37	chrX	115582794	115582794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatattgggacacatggCccatatatctggaaaggaag	10	7	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:115582794C>T	uc004eqi.2	+	8	1222	c.1118C>T	c.(1117-1119)GCC>GTC	p.A373V		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	373					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	GGACACATGGCCCATATATCT	0.328													T	115582794	C	T	115582794	3	4	165	1	0	0	0	0	1	0	0	0	14677	739	26	2	1148	2	SLC6A14	23	115582794	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	12148466	115582794	39687766	1383	90536											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879240	128879240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggctttacagggtctgCaggtgacaatcattacccag	10	10	2	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:128879240C>T	uc004eut.1	+	4	540	c.296C>T	c.(295-297)GCA>GTA	p.A99V	XPNPEP2_uc011mum.1_Missense_Mutation_p.A99V	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	99					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						ACAGGGTCTGCAGGTGACAAT	0.507													T	128879240	C	T	128879240	3	4	165	1	0	0	0	0	1	0	0	0	17440	710	25	2	310	2	XPNPEP2	23	128879240	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	13296446	128879240	26391320	1384	90537											
UTP14A	10813	broad.mit.edu	37	chrX	129060265	129060265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaagataagaatttgCcaaatgtgattatcaatgag	8	4	1	5			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:129060265C>T	uc004euz.2	+	14	2021	c.1993C>T	c.(1993-1995)CCA>TCA	p.P665S	UTP14A_uc011mup.1_Missense_Mutation_p.P613S|UTP14A_uc011muq.1_Missense_Mutation_p.P611S	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	665					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TAAGAATTTGCCAAATGTGAT	0.458											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	129060265	C	T	129060265	3	4	165	1	0	0	0	0	1	0	0	0	17092	739	26	2	2047	2	UTP14A	23	129060265	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	181025	129060265	26210295	1385	90538											
FHL1	2273	broad.mit.edu	37	chrX	135290661	135290661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatcagccctggcatgcCgattgctttgtgtgtgttac	12	10	1	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:135290661C>T	uc004ezo.2	+	5	649	c.549C>T	c.(547-549)GCC>GCT	p.A183A	FHL1_uc010nrz.2_Silent_p.A183A|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Silent_p.A183A|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Silent_p.A183A|FHL1_uc011mvz.1_Silent_p.A183A|FHL1_uc004ezn.2_Silent_p.A183A|FHL1_uc011mwa.1_Silent_p.A212A|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.A199A|FHL1_uc004ezr.2_Missense_Mutation_p.P2L	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	183	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					CCTGGCATGCCGATTGCTTTG	0.478													T	135290661	C	T	135290661	2	4	165	1	0	0	0	0	0	0	0	1	5878	639	23	1		1	FHL1	23	135290661	Silent	SNP	C	TCGA-CG-4305-01A-01D-1158-08	6230396	135290661	19979899	1386	90539											
VGLL1	51442	broad.mit.edu	37	chrX	135631137	135631137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctggaagcacagggttgCtcttcaacctgcctcccggc	11	14	2	0			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:135631137C>T	uc004ezy.2	+	3	774	c.604C>T	c.(604-606)CTC>TTC	p.L202F	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					CACAGGGTTGCTCTTCAACCT	0.552													T	135631137	C	T	135631137	3	4	165	1	0	0	0	0	1	0	0	0	17155	797	28	2	610	2	VGLL1	23	135631137	Missense_Mutation	SNP	C	TCGA-CG-4305-01A-01D-1158-08	340476	135631137	19639423	1387	90540											
F9	2158	broad.mit.edu	37	chrX	138630579	138630579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtaaaaatagtgctgAtaacaaggtggtttgctcct	10	5	0	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:138630579A>G	uc004fas.1	+	5	478	c.449A>G	c.(448-450)GAT>GGT	p.D150G	F9_uc004fat.1_Missense_Mutation_p.D112G	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	150	EGF-like 2.				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			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AATAGTGCTGATAACAAGGTG	0.368													G	138630579	A	G	138630579	3	3	165	1	0	0	0	0	1	0	0	0	5351	333	12	3	467	3	F9	23	138630579	Missense_Mutation	SNP	A	TCGA-CG-4305-01A-01D-1158-08	2999442	138630579	16639981	1388	90541											
HCFC1	3054	broad.mit.edu	37	chrX	153220897	153220897	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggctgttctgtagtcgGggaggccagaatggacacag	18	7	1	1			TCGA-CG-4305-01A-01D-1158-08	TCGA-CG-4305-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e33b1465-3e69-4cd5-b490-45852d5763ed	092ef146-44f8-430f-96ae-0a9a8ef08773	g.chrX:153220897G>T	uc004fjp.2	-	17	3481	c.2953C>A	c.(2953-2955)CCG>ACG	p.P985T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	985					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTAGTCGGGGAGGCCAGA	0.637													T	153220897	G	T	153220897	3	4	165	1	0	0	0	0	1	0	0	0	6991	1232	43	5	3194	5	HCFC1	23	153220897	Missense_Mutation	SNP	G	TCGA-CG-4305-01A-01D-1158-08	14590318	153220897	2049663	1389	90542											
AGRN	375790	broad.mit.edu	37	chr1	981861	981862	+	Frame_Shift_Ins	INS	-	-	C													ctgagccaggcactgccggcINScccccccggcgccctccccc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:981860_981861G>GC	uc001ack.2	+	17	3045_3046	c.2995_2996G>GC	c.(2995-2997)gccfs	p.A999fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	999	Ser/Thr-rich.				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)		GGCACTGCCGGCCCCCCCCGGC	0.703													C	981862	-	C	981861	7	5	166	1	0	1	1	0	0	0	0	0	397	739	26	0	3066	0	AGRN	1	981861	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08		981861	248268760	1	90543											
AGRN	375790	broad.mit.edu	37	chr1	989920	989920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggacactgatggagCcctgtggcttggtgagtgtt	16	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:989920C>T	uc001ack.1	+	35	6019	c.5969C>T	c.(5968-5970)GCC>GTC	p.A1990V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1990	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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;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)		ACTGATGGAGCCCTGTGGCTT	0.642													T	989920	C	T	989920	3	4	166	1	0	0	0	0	1	0	0	0	397	739	26	2	6107	2	AGRN	1	989920	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	8059	989920	248260701	2	90544											
MXRA8	54587	broad.mit.edu	37	chr1	1290438	1290438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgccggtcggtccacacGtgcccgcggttcacgcaggt	14	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:1290438G>A	uc001aew.2	-	5	604	c.573C>T	c.(571-573)CAC>CAT	p.H191H	MXRA8_uc001aex.3_Silent_p.H191H|MXRA8_uc001aey.3_Silent_p.H191H|MXRA8_uc010nyl.1_Silent_p.H191H|MXRA8_uc001aez.2_Silent_p.H90H|MXRA8_uc001afa.2_Silent_p.H182H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	191	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0	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)		CGGTCCACACGTGCCCGCGGT	0.657													A	1290438	G	A	1290438	2	1	166	1	0	0	0	0	0	0	0	1	10005	1136	40	1		1	MXRA8	1	1290438	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	300518	1290438	247960183	3	90545											
KIAA1751	85452	broad.mit.edu	37	chr1	1900173	1900173	+	Frame_Shift_Del	DEL	G	G	-													agccggtgcctggcactggtGgggggatgctgtttcttcct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:1900172_1900172TG>T	uc001aim.1	-	10	1303	c.1147_1147CA>A	c.(1147-1149)accfs	p.T383fs	KIAA1751_uc009vkz.1_Frame_Shift_Del_p.T383fs	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	383										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTGGCACTGGTGGGGGGATGC	0.532													-	1900173	G	-	1900173	7	5	166	1	0	1	0	1	0	0	0	0	8256	1335	47	0	1174	0	KIAA1751	1	1900173	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	609735	1900173	247350448	4	90546											
MEGF6	1953	broad.mit.edu	37	chr1	3418428	3418428	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaccccgtggcaggggGcccccccacaggagcaggag	16	16	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:3418428G>C	uc001akl.2	-	18	2473	c.2246C>G	c.(2245-2247)GCC>GGC	p.A749G	MEGF6_uc001akk.2_Missense_Mutation_p.A644G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	749	EGF-like 12.					extracellular region	calcium ion binding			large_intestine(1)	1	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)		GTGGCAGGGGGCCCCCCCACA	0.697													C	3418428	G	C	3418428	3	2	166	1	0	0	0	0	1	0	0	0	9462	1203	42	5	2459	5	MEGF6	1	3418428	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1518255	3418428	245832193	5	90547											
NPHP4	261734	broad.mit.edu	37	chr1	6038351	6038351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattaaagacgatcctggaCggcggtctcttcgtcggctt	11	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:6038351C>T	uc001alq.1	-	3	524	c.258G>A	c.(256-258)CCG>CCA	p.P86P	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	86					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		CGATCCTGGACGGCGGTCTCT	0.592													T	6038351	C	T	6038351	2	4	166	1	0	0	0	0	0	0	0	1	10581	523	19	1		1	NPHP4	1	6038351	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2619923	6038351	243212270	6	90548											
CHD5	26038	broad.mit.edu	37	chr1	6184676	6184676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaggtctctgcaccatcCgcccccggctcacacaggtg	11	17	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:6184676C>T	uc001amb.1	-	30	4540	c.4440G>A	c.(4438-4440)GCG>GCA	p.A1480A	CHD5_uc001alz.1_Silent_p.A337A|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_Intron	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		CTGCACCATCCGCCCCCGGCT	0.677													T	6184676	C	T	6184676	2	4	166	1	0	0	0	0	0	0	0	1	3328	639	23	1		1	CHD5	1	6184676	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	146325	6184676	243065945	7	90549											
NOL9	79707	broad.mit.edu	37	chr1	6586028	6586028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtttaaaattgtaatcCgttgtgacataaggtactgt	10	4	0	1	rs146670350		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:6586028C>T	uc001ans.2	-	12	2014	c.1995G>A	c.(1993-1995)ACG>ACA	p.T665T	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	665					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	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)		AATTGTAATCCGTTGTGACAT	0.468													T	6586028	C	T	6586028	2	4	166	1	0	0	0	0	0	0	0	1	10528	639	23	1		1	NOL9	1	6586028	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	401352	6586028	242664593	8	90550											
CAMTA1	23261	broad.mit.edu	37	chr1	7725039	7725039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcagaggacggggcgcGggcccccttcacccaggcag	15	15	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:7725039G>A	uc001aoi.2	+	9	2639	c.2432G>A	c.(2431-2433)CGG>CAG	p.R811Q		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		GACGGGGCGCGGGCCCCCTTC	0.687													A	7725039	G	A	7725039	3	1	166	1	0	0	0	0	1	0	0	0	2613	1116	39	1	2466	1	CAMTA1	1	7725039	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1139011	7725039	241525582	9	90551											
RERE	473	broad.mit.edu	37	chr1	8420188	8420188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctagctgactggctggCgtgactgggggtgtccacca	15	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:8420188C>T	uc001ape.2	-	19	4189	c.3379G>A	c.(3379-3381)GCC>ACC	p.A1127T	RERE_uc001apf.2_Missense_Mutation_p.A1127T|RERE_uc010nzx.1_Missense_Mutation_p.A859T|RERE_uc001apd.2_Missense_Mutation_p.A573T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1127					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			ovary(1)|central_nervous_system(1)	2	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)		GACTGGCTGGCGTGACTGGGG	0.697													T	8420188	C	T	8420188	3	4	166	1	0	0	0	0	1	0	0	0	13231	768	27	1	1345	1	RERE	1	8420188	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	695149	8420188	240830433	10	90552											
ZBTB17	7709	broad.mit.edu	37	chr1	16268632	16268632	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatagaagtccgcgtctgtCtggaacatgaccagtgcctg	12	10	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:16268632C>T	uc001axl.3	-	16	2483	c.2244G>A	c.(2242-2244)CAG>CAA	p.Q748Q	ZBTB17_uc010obq.1_Silent_p.Q665Q|ZBTB17_uc010obr.1_Silent_p.Q755Q|ZBTB17_uc010obs.1_Silent_p.Q672Q	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	748	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		CCGCGTCTGTCTGGAACATGA	0.632													T	16268632	C	T	16268632	2	4	166	1	0	0	0	0	0	0	0	1	17524	912	32	4		4	ZBTB17	1	16268632	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	7848444	16268632	232981989	11	90553											
CROCC	9696	broad.mit.edu	37	chr1	17281945	17281945	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaggcaggcgagctgCgacgcagcctgggcgagggt	20	11	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:17281945C>T	uc001azt.2	+	24	3673	c.3604C>T	c.(3604-3606)CGA>TGA	p.R1202*	CROCC_uc001azu.2_Nonsense_Mutation_p.R505*	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1202	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		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)		AGGCGAGCTGCGACGCAGCCT	0.706													T	17281945	C	T	17281945	4	4	166	1	0	0	0	0	0	1	0	0	3893	760	27	1	3698	1	CROCC	1	17281945	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1013313	17281945	231968676	12	90554											
PADI3	51702	broad.mit.edu	37	chr1	17603075	17603075	+	Frame_Shift_Del	DEL	C	C	-													tccatgcccagaaggtgcagCcccccgtggagctctttgtg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:17603074_17603074GC>G	uc001bai.3	+	11	1408	c.1368_1368GC>G	c.(1366-1368)cagfs	p.Q456fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	456					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)	AGAAGGTGCAGCCCCCCGTGG	0.567													-	17603075	C	-	17603075	7	5	166	1	0	1	0	1	0	0	0	0	11379	739	26	0	1415	0	PADI3	1	17603075	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	321130	17603075	231647546	13	90555											
RCC2	55920	broad.mit.edu	37	chr1	17747226	17747226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacccagctgaccatattcAgggcacccaaaggaatagag	9	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:17747226A>G	uc001bal.2	-	6	890	c.843T>C	c.(841-843)CCT>CCC	p.P281P	RCC2_uc001bam.2_Silent_p.P281P	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	281	RCC1 4.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|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;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GACCATATTCAGGGCACCCAA	0.428													G	17747226	A	G	17747226	2	3	166	1	0	0	0	0	0	0	0	1	13174	175	7	3		3	RCC2	1	17747226	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	144151	17747226	231503395	14	90556											
HSPG2	3339	broad.mit.edu	37	chr1	22155955	22155955	+	Frame_Shift_Del	DEL	C	C	-													tcctccacaggcccgctcttCcccccgctgaacagcaggac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:22155954_22155954TC>T	uc009vqd.3	-	86	11957	c.11917_11917GA>A	c.(11917-11919)aagfs	p.K3973fs	HSPG2_uc001bfi.3_5'UTR|HSPG2_uc001bfj.3_Frame_Shift_Del_p.K3972fs	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3972	Laminin G-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)	GGCCCGCTCTTCCCCCCGCTG	0.652													-	22155955	C	-	22155955	7	5	166	1	0	1	0	1	0	0	0	0	7430	842	30	0	1306	0	HSPG2	1	22155955	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	4408729	22155955	227094666	15	90557											
HSPG2	3339	broad.mit.edu	37	chr1	22174254	22174254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggctgcctggcgaccacGcagttcagatccaaggtctg	14	12	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:22174254G>A	uc001bfj.2	-	61	7993	c.7953C>T	c.(7951-7953)TGC>TGT	p.C2651C	HSPG2_uc009vqd.2_Silent_p.C2652C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2651	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	TGGCGACCACGCAGTTCAGAT	0.647													A	22174254	G	A	22174254	2	1	166	1	0	0	0	0	0	0	0	1	7430	1079	38	1		1	HSPG2	1	22174254	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	18299	22174254	227076367	16	90558											
GRHL3	57822	broad.mit.edu	37	chr1	24669458	24669458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagactgacctggagacGccacccgtgctgttcatccc	10	16	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:24669458G>A	uc001biy.2	+	11	1423	c.1377G>A	c.(1375-1377)ACG>ACA	p.T459T	GRHL3_uc001bix.2_Silent_p.T454T|GRHL3_uc001biz.2_Silent_p.T361T	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	454					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		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)		ACCTGGAGACGCCACCCGTGC	0.632													A	24669458	G	A	24669458	2	1	166	1	0	0	0	0	0	0	0	1	6765	1074	38	1		1	GRHL3	1	24669458	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2495204	24669458	224581163	17	90559											
ARID1A	8289	broad.mit.edu	37	chr1	27101438	27101438	+	Frame_Shift_Del	DEL	C	C	-													cccctccatctaactaccagCccccaccaagcatgcagaat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:27101437_27101437GC>G	uc001bmv.1	+	17	5092	c.4719_4719GC>G	c.(4717-4719)cagfs	p.Q1573fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q1572fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q1190fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Q419fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1573					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	SWI/SNF complex|nBAF complex|npBAF 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)		CTAACTACCAGCCCCCACCAA	0.622			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27101438	C	-	27101438	7	5	166	1	0	1	0	1	0	0	0	0	913	739	26	0	4790	0	ARID1A	1	27101438	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	2431980	27101438	222149183	18	90560											
FGR	2268	broad.mit.edu	37	chr1	27949552	27949552	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggtggcctggtcacttaCgtattgttcaggatgtggaa	13	7	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:27949552C>T	uc001boj.2	-	2	475	c.329_splice	c.e2+1	p.T110_splice	FGR_uc001bok.2_Splice_Site_p.T110_splice|FGR_uc001bol.2_Splice_Site_p.T110_splice|FGR_uc001bom.2_Splice_Site_p.T110_splice	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR						platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		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)		TGGTCACTTACGTATTGTTCA	0.333													T	27949552	C	T	27949552	5	4	166	1	0	0	0	0	0	0	1	0	5874	550	19	1	1299	1	FGR	1	27949552	Splice_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08	848114	27949552	221301069	19	90561											
LAPTM5	7805	broad.mit.edu	37	chr1	31208095	31208095	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctgtagcaccgccacacGcacttgaacatgtagacctg	8	13	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:31208095G>T	uc001bsc.2	-	7	715	c.624C>A	c.(622-624)TGC>TGA	p.C208*		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	208					transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCCACACGCACTTGAACA	0.537													T	31208095	G	T	31208095	4	4	166	1	0	0	0	0	0	1	0	0	8626	1079	38	5	172	5	LAPTM5	1	31208095	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3258543	31208095	218042526	20	90562											
COL16A1	1307	broad.mit.edu	37	chr1	32145288	32145288	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggaatacctggtggacccTgagggagagagaaaagagtc	16	7	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:32145288T>C	uc001btk.1	-	42	3084	c.2719_splice	c.e42-1	p.G907_splice	COL16A1_uc001btj.1_Splice_Site_p.G720_splice|COL16A1_uc001btl.3_Intron	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGTGGACCCTGAGGGAGAGA	0.622													C	32145288	T	C	32145288	5	2	166	1	0	0	0	0	0	0	1	0	3673	1594	55	3	2217	3	COL16A1	1	32145288	Splice_Site	SNP	T	TCGA-CG-4306-01A-01D-1158-08	937193	32145288	217105333	21	90563											
RNF19B	127544	broad.mit.edu	37	chr1	33402541	33402541	+	Frame_Shift_Del	DEL	G	G	-													gcaggctgcagtatgggagcGgggggagccacactcatctg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:33402540_33402540CG>C	uc010oho.2	-	8	2066	c.2066_2066CG>G	c.(2065-2067)cgcfs	p.R689fs	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Frame_Shift_Del_p.R688fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	689						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTATGGGAGCGGGGGGAGCC	0.607													-	33402541	G	-	33402541	7	5	166	1	0	1	0	1	0	0	0	0	13471	1116	39	0	137	0	RNF19B	1	33402541	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	1257253	33402541	215848080	22	90564											
C1orf94	84970	broad.mit.edu	37	chr1	34663184	34663184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggacagaggacaggggcCgcatcctaggtgactccaac	15	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:34663184C>T	uc001bxs.3	+	2	508	c.109C>T	c.(109-111)CGC>TGC	p.R37C	C1orf94_uc001bxt.2_Missense_Mutation_p.R227C	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	37							protein binding				0		Myeloproliferative disorder(586;0.0393)				GGACAGGGGCCGCATCCTAGG	0.542													T	34663184	C	T	34663184	3	4	166	1	0	0	0	0	1	0	0	0	2071	652	23	1	685	1	C1orf94	1	34663184	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1260643	34663184	214587437	23	90565											
NCDN	23154	broad.mit.edu	37	chr1	36024729	36024729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaaggcgagcatcatgGcctcggattgcgagccagct	15	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36024729G>A	uc001bza.2	+	3	182	c.55G>A	c.(55-57)GCC>ACC	p.A19T	KIAA0319L_uc001byx.2_5'Flank|KIAA0319L_uc010ohw.1_5'Flank|KIAA0319L_uc001byz.2_5'Flank|KIAA0319L_uc010ohx.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.A19T|NCDN_uc001bzc.2_Missense_Mutation_p.A2T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	19					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGCATCATGGCCTCGGATTG	0.488													A	36024729	G	A	36024729	3	1	166	1	0	0	0	0	1	0	0	0	10214	1203	42	2	61	2	NCDN	1	36024729	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1361545	36024729	213225892	24	90566											
EIF2C4	192670	broad.mit.edu	37	chr1	36307280	36307280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggaagaagattaccggCcaggaataacttatattgtg	11	6	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36307280C>T	uc001bzj.1	+	15	2294	c.2104C>T	c.(2104-2106)CCA>TCA	p.P702S		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	702	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATTACCGGCCAGGAATAAC	0.353													T	36307280	C	T	36307280	3	4	166	1	0	0	0	0	1	0	0	0	5008	739	26	2	2162	2	EIF2C4	1	36307280	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	282551	36307280	212943341	25	90567											
EIF2C1	26523	broad.mit.edu	37	chr1	36358210	36358210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctcagatctttggtgatCgcaagcctgtgtatgatgga	12	8	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36358210C>T	uc001bzl.2	+	3	475	c.262C>T	c.(262-264)CGC>TGC	p.R88C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R13C|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	88					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTTGGTGATCGCAAGCCTGT	0.517													T	36358210	C	T	36358210	3	4	166	1	0	0	0	0	1	0	0	0	5005	884	31	1	272	1	EIF2C1	1	36358210	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	50930	36358210	212892411	26	90568											
EIF2C3	192669	broad.mit.edu	37	chr1	36432609	36432609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaactatatttggagaccGtagaccagtttatgatggaa	10	5	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36432609G>A	uc001bzp.2	+	3	501	c.245G>A	c.(244-246)CGT>CAT	p.R82H	EIF2C3_uc001bzn.1_Missense_Mutation_p.R82H|EIF2C3_uc001bzo.2_RNA|EIF2C3_uc001bzq.2_Intron	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	82					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTGGAGACCGTAGACCAGTT	0.383													A	36432609	G	A	36432609	3	1	166	1	0	0	0	0	1	0	0	0	5007	1145	40	1	255	1	EIF2C3	1	36432609	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	74399	36432609	212818012	27	90569											
MFSD2A	84879	broad.mit.edu	37	chr1	40433301	40433301	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctttgtccatccacagcTctcggccactttaaccattc	4	18	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:40433301T>G	uc001cev.2	+	10	1233	c.1052T>G	c.(1051-1053)CTC>CGC	p.L351R	MFSD2A_uc010ojb.1_Missense_Mutation_p.L299R|MFSD2A_uc001ceu.2_Missense_Mutation_p.L338R|MFSD2A_uc010ojc.1_Missense_Mutation_p.L182R|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Missense_Mutation_p.L2R	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	351	Helical; (Potential).				transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CATCCACAGCTCTCGGCCACT	0.557													G	40433301	T	G	40433301	3	3	166	1	0	0	0	0	1	0	0	0	9530	1565	54	5	1090	5	MFSD2A	1	40433301	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	4000692	40433301	208817320	28	90570											
RLF	6018	broad.mit.edu	37	chr1	40702139	40702140	+	Frame_Shift_Ins	INS	-	-	A													cacctgtccagtttgtattaINSaaaaatttaagagaaaagaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:40702138_40702139T>TA	uc001cfc.4	+	7	1795_1796	c.1764_1765T>TA	c.(1762-1767)attaaafs	p.I588fs	RLF_uc001cfd.4_Frame_Shift_Ins_p.I279fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	588					DNA integration|DNA mediated transformation|chromosome organization|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)			CAGTTTGTATTAAAAAATTTAA	0.342													A	40702140	-	A	40702139	7	5	166	1	0	1	1	0	0	0	0	0	13389	363	13	0	1795	0	RLF	1	40702139	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	268838	40702139	208548482	29	90571											
HIVEP3	59269	broad.mit.edu	37	chr1	42046106	42046108	+	In_Frame_Del	DEL	CCT	CCT	-													tttttcatctgccttggaagCctcctcctccttcactcttt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:42046105_42046107GCCT>G	uc001cgz.4	-	3	5575_5577	c.4362_4364AGGC>C	c.(4360-4365)gaggct>gaCt	p.1454_1455EA>D	HIVEP3_uc001cha.4_In_Frame_Del_p.1454_1455EA>D|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1454					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)				TGCCTTGGAAGCCTCCTCCTCCT	0.512													-	42046108	CCT	-	42046106	7	5	166	1	0	1	0	1	0	0	0	0	7188	739	26	0	2881	0	HIVEP3	1	42046106	In_Frame_Del	DEL	CCT	TCGA-CG-4306-01A-01D-1158-08	1343967	42046106	207204515	30	90572											
WDR65	149465	broad.mit.edu	37	chr1	43649306	43649306	+	Frame_Shift_Del	DEL	A	A	-													actcaggtgtgtgtcactggAaatgggatgtttaagcttct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:43649305_43649305GA>G	uc021omk.1	+	3	664	c.518_518GA>G	c.(517-519)ggafs	p.G173fs	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Frame_Shift_Del_p.G162fs|WDR65_uc001ciq.2_Frame_Shift_Del_p.G173fs|WDR65_uc001cip.2_Frame_Shift_Del_p.G173fs	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	173										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)				TGTGTCACTGGAAATGGGATG	0.428													-	43649306	A	-	43649306	7	5	166	1	0	1	0	1	0	0	0	0	17313	233	9	0	529	0	WDR65	1	43649306	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	1603200	43649306	205601315	31	90573											
KIAA0467	23334	broad.mit.edu	37	chr1	43903494	43903494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttagacatggtctctagCcgcagttcagatgctgctcg	10	13	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:43903494C>T	uc001cjk.1	+	31	4194	c.3732C>T	c.(3730-3732)AGC>AGT	p.S1244S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2143						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCTCTAGCCGCAGTTCAG	0.577													T	43903494	C	T	43903494	2	4	166	1	0	0	0	0	0	0	0	1	8178	738	26	2		2	KIAA0467	1	43903494	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	254188	43903494	205347127	32	90574											
B4GALT2	8704	broad.mit.edu	37	chr1	44447558	44447558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacaccccatcttgaggCggcagcggctgcgctacggc	12	15	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:44447558C>T	uc001clg.2	+	3	881	c.511C>T	c.(511-513)CGG>TGG	p.R171W	B4GALT2_uc001clh.2_Missense_Mutation_p.R105W|B4GALT2_uc010okl.1_Missense_Mutation_p.R200W|B4GALT2_uc001cli.2_Missense_Mutation_p.R171W	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	171	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CATCTTGAGGCGGCAGCGGCT	0.612													T	44447558	C	T	44447558	3	4	166	1	0	0	0	0	1	0	0	0	1271	759	27	1	517	1	B4GALT2	1	44447558	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	544064	44447558	204803063	33	90575											
TMEM53	79639	broad.mit.edu	37	chr1	45120723	45120723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtacagcatgacgccaccGttgctgaagacatggaagag	13	10	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:45120723G>A	uc001cmc.2	-	3	378	c.342C>T	c.(340-342)AAC>AAT	p.N114N	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.N41N|TMEM53_uc009vxh.1_Translation_Start_Site|TMEM53_uc010ola.1_Translation_Start_Site	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	114						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					TGACGCCACCGTTGCTGAAGA	0.577											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45120723	G	A	45120723	2	1	166	1	0	0	0	0	0	0	0	1	16176	1136	40	1		1	TMEM53	1	45120723	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	673165	45120723	204129898	34	90576											
HPDL	84842	broad.mit.edu	37	chr1	45793721	45793721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggcagatccgagctgcaGggcacgagcctcatctgctt	13	12	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:45793721G>T	uc001cne.2	+	1	1177	c.901G>T	c.(901-903)GGG>TGG	p.G301W		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	301					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CCGAGCTGCAGGGCACGAGCC	0.582													T	45793721	G	T	45793721	3	4	166	1	0	0	0	0	1	0	0	0	7333	1000	35	5	903	5	HPDL	1	45793721	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	672998	45793721	203456900	35	90577											
NASP	4678	broad.mit.edu	37	chr1	46073759	46073759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagatcagactcctatTgaaccacagacttctataga	8	9	2	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:46073759T>C	uc001coi.1	+	6	1278	c.1176T>C	c.(1174-1176)ATT>ATC	p.I392I	NASP_uc010olq.1_Silent_p.I355I|NASP_uc001coh.1_Silent_p.I394I|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Silent_p.I328I|NASP_uc001cok.1_Silent_p.I275I	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	392	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGACTCCTATTGAACCACAGA	0.493													C	46073759	T	C	46073759	2	2	166	1	0	0	0	0	0	0	0	1	10172	1800	63	3		3	NASP	1	46073759	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	280038	46073759	203176862	36	90578											
GPX7	2882	broad.mit.edu	37	chr1	53074041	53074041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtggaggaggtcagaCcccagatcacagcgctcgtg	14	11	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:53074041C>A	uc001cue.2	+	3	547	c.508C>A	c.(508-510)CCC>ACC	p.P170T		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	170					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)	GGAGGTCAGACCCCAGATCAC	0.577													A	53074041	C	A	53074041	3	1	166	1	0	0	0	0	1	0	0	0	6745	507	18	5	518	5	GPX7	1	53074041	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	7000282	53074041	196176580	37	90579											
FAM151A	338094	broad.mit.edu	37	chr1	55075579	55075579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttcagccacagttccctCgaggccagtgttcagcagga	11	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:55075579C>T	uc001cxn.2	-	8	1252	c.1120G>A	c.(1120-1122)GAG>AAG	p.E374K	ACOT11_uc001cxj.1_3'UTR|ACOT11_uc001cxl.1_3'UTR|ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	374						integral to membrane					0						ACAGTTCCCTCGAGGCCAGTG	0.547													T	55075579	C	T	55075579	3	4	166	1	0	0	0	0	1	0	0	0	5458	893	31	1	641	1	FAM151A	1	55075579	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2001538	55075579	194175042	38	90580											
TMEM61	199964	broad.mit.edu	37	chr1	55457540	55457540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttgacatccccacttacGaggaagccgtgagcttccca	10	13	0	2	rs142872695		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:55457540G>A	uc001cyd.2	+	3	671	c.397G>A	c.(397-399)GAG>AAG	p.E133K		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	133						integral to membrane					0						CCCCACTTACGAGGAAGCCGT	0.627													A	55457540	G	A	55457540	3	1	166	1	0	0	0	0	1	0	0	0	16185	1059	37	1	407	1	TMEM61	1	55457540	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	381961	55457540	193793081	39	90581											
JAK1	3716	broad.mit.edu	37	chr1	65335080	65335080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccatccctagacactcGttctcaatatcatgtccatc	4	15	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:65335080G>A	uc001dbu.1	-	6	810	c.561C>T	c.(559-561)AAC>AAT	p.N187N	JAK1_uc009wam.1_Silent_p.N175N	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	187	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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTAGACACTCGTTCTCAATAT	0.512			Mis		ALL								A	65335080	G	A	65335080	2	1	166	1	0	0	0	0	0	0	0	1	7937	1136	40	1		1	JAK1	1	65335080	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	9877540	65335080	183915541	40	90582											
IL12RB2	3595	broad.mit.edu	37	chr1	67861543	67861543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccagcctgtccctggaCggtgctcccagcaggtgacc	11	16	0	1	rs141507006		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:67861543C>T	uc001ddu.2	+	16	3000	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	787	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TGTCCCTGGACGGTGCTCCCA	0.582													T	67861543	C	T	67861543	3	4	166	1	0	0	0	0	1	0	0	0	7627	536	19	1	2418	1	IL12RB2	1	67861543	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2526463	67861543	181389078	41	90583											
SERBP1	26135	broad.mit.edu	37	chr1	67895978	67895978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccttcctgtaagtgcccAggcatgatggtggctcggcg	14	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:67895978A>G	uc001ddv.2	-	1	146	c.6T>C	c.(4-6)CCT>CCC	p.P2P	SERBP1_uc001ddx.2_Silent_p.P2P|SERBP1_uc001ddy.2_Silent_p.P2P|SERBP1_uc001ddw.2_Silent_p.P2P	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	2					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						GTAAGTGCCCAGGCATGATGG	0.632													G	67895978	A	G	67895978	2	3	166	1	0	0	0	0	0	0	0	1	14075	175	7	3		3	SERBP1	1	67895978	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	34435	67895978	181354643	42	90584											
LRRC7	57554	broad.mit.edu	37	chr1	70504915	70504915	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaatgaggatgctgtGgtgaatgcccagttcgcaag	14	7	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:70504915G>T	uc001dep.2	+	19	3324	c.3294G>T	c.(3292-3294)GTG>GTT	p.V1098V	LRRC7_uc009wbg.2_Silent_p.V382V|LRRC7_uc001deq.2_Silent_p.V339V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1098						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGGATGCTGTGGTGAATGCCC	0.527													T	70504915	G	T	70504915	2	4	166	1	0	0	0	0	0	0	0	1	9020	1335	47	5		5	LRRC7	1	70504915	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2608937	70504915	178745706	43	90585											
CTH	1491	broad.mit.edu	37	chr1	70877194	70877194	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccaggatccagagcaatgGacctccagggctgtagtgcc	14	12	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:70877194G>A	uc001dfd.2	+	1	240	c.96G>A	c.(94-96)TGG>TGA	p.W32*	CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Nonsense_Mutation_p.W32*|CTH_uc010oqq.1_Nonsense_Mutation_p.W32*	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	32					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGAGCAATGGACCTCCAGGG	0.602													A	70877194	G	A	70877194	4	1	166	1	0	0	0	0	0	1	0	0	4009	1183	41	4	98	4	CTH	1	70877194	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	372279	70877194	178373427	44	90586											
NEXN	91624	broad.mit.edu	37	chr1	78395171	78395171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaagaaggcgtttgcTgaagcaaggagaaatatggt	14	3	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:78395171T>C	uc001dic.3	+	9	1332	c.1035T>C	c.(1033-1035)GCT>GCC	p.A345A	NEXN_uc001dia.3_Silent_p.A331A|NEXN_uc009wcb.1_Silent_p.A267A|NEXN_uc001dib.3_Silent_p.A281A|NEXN_uc001did.1_Silent_p.A255A|NEXN_uc001dif.1_Silent_p.A237A	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	345	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		agGCGTTTGCTGAAGCAAGGA	0.194													C	78395171	T	C	78395171	2	2	166	1	0	0	0	0	0	0	0	1	10355	1567	55	3		3	NEXN	1	78395171	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	7517977	78395171	170855450	45	90587											
FUBP1	8880	broad.mit.edu	37	chr1	78428529	78428529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaattgtaaataacttcaTattaggatctgcatttggtg	8	5	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:78428529T>C	uc001dii.2	-	14	1359	c.1270A>G	c.(1270-1272)ATG>GTG	p.M424V	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.M445V	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	424	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						AATAACTTCATATTAGGATCT	0.363													C	78428529	T	C	78428529	3	2	166	1	0	0	0	0	1	0	0	0	6092	1406	49	3	692	3	FUBP1	1	78428529	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	33358	78428529	170822092	46	90588											
PRKACB	5567	broad.mit.edu	37	chr1	84650786	84650786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttatttgttcataggatAattctaatttatacatggtt	5	3	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:84650786A>G	uc001djj.2	+	5	604	c.340A>G	c.(340-342)AAT>GAT	p.N114D	PRKACB_uc001djl.2_Missense_Mutation_p.N161D|PRKACB_uc010ort.1_Missense_Mutation_p.N121D|PRKACB_uc001djn.2_Missense_Mutation_p.N118D|PRKACB_uc010oru.1_Missense_Mutation_p.N102D|PRKACB_uc001djp.2_Missense_Mutation_p.N120D|PRKACB_uc001djq.2_Missense_Mutation_p.N84D|PRKACB_uc010orv.1_Missense_Mutation_p.N101D|PRKACB_uc001dji.2_Missense_Mutation_p.N114D|PRKACB_uc001djk.2_Missense_Mutation_p.N161D|PRKACB_uc009wcf.1_Missense_Mutation_p.N120D	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	114	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			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTCATAGGATAATTCTAATTT	0.274													G	84650786	A	G	84650786	3	3	166	1	0	0	0	0	1	0	0	0	12498	362	13	3	549	3	PRKACB	1	84650786	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	6222257	84650786	164599835	47	90589											
ZNHIT6	54680	broad.mit.edu	37	chr1	86173931	86173931	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctacgctgtggagacctcCcccagacttcccttcatttt	7	15	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:86173931C>A	uc001dlh.2	-	1	171	c.37G>T	c.(37-39)GGA>TGA	p.G13*	ZNHIT6_uc010osc.1_Nonsense_Mutation_p.G13*	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6	13					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						TGGAGACCTCCCCCAGACTTC	0.587													A	86173931	C	A	86173931	4	1	166	1	0	0	0	0	0	1	0	0	18206	632	22	5	1415	5	ZNHIT6	1	86173931	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1523145	86173931	163076690	48	90590											
GBP7	388646	broad.mit.edu	37	chr1	89599011	89599012	+	Frame_Shift_Ins	INS	-	-	T													ttccctctccatcttcttctINStgagttgagctatgttttcc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:89599010_89599011C>CT	uc001dna.2	-	9	1731_1732	c.1592_1593G>AG	c.(1591-1593)aagfs	p.K531fs	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	531						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)		CCATCTTCTTCTTGAGTTGAGC	0.436													T	89599012	-	T	89599011	7	5	166	1	0	1	1	0	0	0	0	0	6279	1609	56	0	332	0	GBP7	1	89599011	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	3425080	89599011	159651610	49	90591											
GBP6	163351	broad.mit.edu	37	chr1	89847424	89847424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagctccccacagacaCgctccaggagctgctggaca	11	14	0	2	rs141648455	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:89847424C>T	uc001dnf.2	+	7	1317	c.1043C>T	c.(1042-1044)ACG>ATG	p.T348M	GBP6_uc010ost.1_Missense_Mutation_p.T218M	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	348							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCCACAGACACGCTCCAGGAG	0.567													T	89847424	C	T	89847424	3	4	166	1	0	0	0	0	1	0	0	0	6278	536	19	1	1065	1	GBP6	1	89847424	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	248413	89847424	159403197	50	90592											
ZNF644	84146	broad.mit.edu	37	chr1	91382413	91382413	+	Frame_Shift_Del	DEL	T	T	-													tttctgtaatggaggcaggcTttttaagtagtgacgtgact							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:91382412_91382412CT>C	uc001dnw.3	-	5	4210	c.3927_3927AG>G	c.(3925-3927)aagfs	p.K1309fs	ZNF644_uc001dnv.3_Frame_Shift_Del_p.K87fs|ZNF644_uc001dnx.3_Frame_Shift_Del_p.K87fs	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGGAGGCAGGCTTTTTAAGTA	0.413													-	91382413	T	-	91382413	7	5	166	1	0	1	0	1	0	0	0	0	18057	1609	56	0	61	0	ZNF644	1	91382413	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	1534989	91382413	157868208	51	90593											
AGL	178	broad.mit.edu	37	chr1	100353617	100353617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaagatggtggagggtGctatgacataccaaactggt	14	5	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:100353617G>A	uc001dsi.1	+	21	3165	c.2765G>A	c.(2764-2766)TGC>TAC	p.C922Y	AGL_uc001dsj.1_Missense_Mutation_p.C922Y|AGL_uc001dsk.1_Missense_Mutation_p.C922Y|AGL_uc001dsl.1_Missense_Mutation_p.C922Y|AGL_uc001dsm.1_Missense_Mutation_p.C906Y|AGL_uc001dsn.1_Missense_Mutation_p.C905Y	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	922	4-alpha-glucanotransferase.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		GGTGGAGGGTGCTATGACATA	0.408													A	100353617	G	A	100353617	3	1	166	1	0	0	0	0	1	0	0	0	384	1319	46	2	2912	2	AGL	1	100353617	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	8971204	100353617	148897004	52	90594											
SLC35A3	23443	broad.mit.edu	37	chr1	100480939	100480939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagaatggattttttcaggGatataaccgactgacctgga	10	6	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:100480939G>A	uc001dsp.1	+	6	913	c.716G>A	c.(715-717)GGA>GAA	p.G239E	SLC35A3_uc001dsq.1_Missense_Mutation_p.G239E|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Missense_Mutation_p.G281E|SLC35A3_uc001dss.1_Missense_Mutation_p.G158E	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	239					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTTTTTCAGGGATATAACCGA	0.294													A	100480939	G	A	100480939	3	1	166	1	0	0	0	0	1	0	0	0	14572	1174	41	4	734	4	SLC35A3	1	100480939	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	127322	100480939	148769682	53	90595											
S1PR1	1901	broad.mit.edu	37	chr1	101705604	101705604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaattcagccgcagcaaatCggacaattcctcccaccccc	7	17	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:101705604C>T	uc001dud.2	+	2	1578	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L	S1PR1_uc009weg.2_Missense_Mutation_p.S355L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	355	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						CGCAGCAAATCGGACAATTCC	0.537													T	101705604	C	T	101705604	3	4	166	1	0	0	0	0	1	0	0	0	13793	893	31	1	1066	1	S1PR1	1	101705604	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1224665	101705604	147545017	54	90596											
OLFM3	118427	broad.mit.edu	37	chr1	102270106	102270106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacctccaaggtatcttgGttaagttggctgatgacaat	9	8	2	2	rs144970574	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:102270106G>A	uc001duf.2	-	6	1196	c.1125C>T	c.(1123-1125)AAC>AAT	p.N375N	OLFM3_uc001dug.2_Silent_p.N355N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.N280N|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	375	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		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)		AGGTATCTTGGTTAAGTTGGC	0.483													A	102270106	G	A	102270106	2	1	166	1	0	0	0	0	0	0	0	1	10854	1252	44	4		4	OLFM3	1	102270106	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	564502	102270106	146980515	55	90597											
COL11A1	1301	broad.mit.edu	37	chr1	103345259	103345259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaaccatcatacagtgTtttgataaaaggattattgt	7	7	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:103345259T>C	uc001dul.2	-	66	5572	c.5254A>G	c.(5254-5256)ACA>GCA	p.T1752A	COL11A1_uc001duk.2_Missense_Mutation_p.T948A|COL11A1_uc001dum.2_Missense_Mutation_p.T1764A|COL11A1_uc001dun.2_Missense_Mutation_p.T1713A|COL11A1_uc009weh.2_Missense_Mutation_p.T1636A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1752	Fibrillar collagen NC1.				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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		TCATACAGTGTTTTGATAAAA	0.438													C	103345259	T	C	103345259	3	2	166	1	0	0	0	0	1	0	0	0	3667	1725	60	3	174	3	COL11A1	1	103345259	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1075153	103345259	145905362	56	90598											
SLC25A24	29957	broad.mit.edu	37	chr1	108681756	108681756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgctggataaggcaccGcatcccagcaacaccatgac	10	14	0	1	rs144919358		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:108681756G>A	uc001dvn.3	-	9	1387	c.1173C>T	c.(1171-1173)TGC>TGT	p.C391C	SLC25A24_uc001dvm.2_Silent_p.C372C	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	391	Solcar 3.|Helical; Name=5; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATAAGGCACCGCATCCCAGCA	0.463													A	108681756	G	A	108681756	2	1	166	1	0	0	0	0	0	0	0	1	14487	1079	38	1		1	SLC25A24	1	108681756	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5336497	108681756	140568865	57	90599											
SORT1	6272	broad.mit.edu	37	chr1	109857386	109857386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggataattggaacagaAtttgacttggaattcttgag	11	5	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:109857386A>C	uc001dxm.1	-	18	2314	c.2265T>G	c.(2263-2265)AAT>AAG	p.N755K	SORT1_uc010ovi.1_Missense_Mutation_p.N618K	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	755	Interactions with LRPAP1 and NGFB.|Extracellular (Potential).				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			ovary(1)	1		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)		TTGGAACAGAATTTGACTTGG	0.438													C	109857386	A	C	109857386	3	2	166	1	0	0	0	0	1	0	0	0	14935	98	4	5	242	5	SORT1	1	109857386	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1175630	109857386	139393235	58	90600											
CSF1	1435	broad.mit.edu	37	chr1	110466431	110466431	+	Frame_Shift_Del	DEL	C	C	-													ccatctgccctgctcagagaCcccccggagccaggctctcc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:110466430_110466430AC>A	uc001dyu.2	+	5	1600	c.1187_1187AC>A	c.(1186-1188)gacfs	p.D396fs	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Frame_Shift_Del_p.D396fs|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	396					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCTCAGAGACCCCCCGGAG	0.657													-	110466431	C	-	110466431	7	5	166	1	0	1	0	1	0	0	0	0	3931	506	18	0	1210	0	CSF1	1	110466431	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	609045	110466431	138784190	59	90601											
RHOC	389	broad.mit.edu	37	chr1	113245673	113245673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggatgacatcagtgtcCgggtaggagagaggccgcag	17	7	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:113245673C>T	uc001ecp.1	-	4	525	c.225G>A	c.(223-225)CCG>CCA	p.P75P	RHOC_uc001ecq.1_Silent_p.P75P|RHOC_uc001ecr.1_Silent_p.P75P|RHOC_uc009wgk.1_Silent_p.P75P	NM_001042679	NP_001036144	P08134	RHOC_HUMAN	ras homolog gene family, member C precursor	75					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			ovary(1)	1	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)		CATCAGTGTCCGGGTAGGAGA	0.602													T	113245673	C	T	113245673	2	4	166	1	0	0	0	0	0	0	0	1	13336	639	23	1		1	RHOC	1	113245673	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2779242	113245673	136004948	60	90602											
SLC16A1	6566	broad.mit.edu	37	chr1	113471890	113471890	+	Frame_Shift_Del	DEL	G	G	-													cccagccccagcctccatctGggggggtgtatccaactgga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:113471889_113471889TG>T	uc001ecx.3	-	1	874	c.42_42CA>A	c.(40-42)ccafs	p.P14fs	SLC16A1_uc001ecy.3_Frame_Shift_Del_p.P14fs|SLC16A1_uc001ecz.3_Frame_Shift_Del_p.P14fs	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	14					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGCCTCCATCTGGGGGGGTGT	0.428													-	113471890	G	-	113471890	7	5	166	1	0	1	0	1	0	0	0	0	14402	1348	47	0	1477	0	SLC16A1	1	113471890	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	226217	113471890	135778731	61	90603											
AMPD1	270	broad.mit.edu	37	chr1	115217434	115217434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgctgtcatgagatggGtgagggctccagcttctcca	13	9	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:115217434G>A	uc001efe.1	-	13	1823	c.1739C>T	c.(1738-1740)ACC>ATC	p.T580I	AMPD1_uc001eff.1_Missense_Mutation_p.T576I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	580					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	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)	CATGAGATGGGTGAGGGCTCC	0.453													A	115217434	G	A	115217434	3	1	166	1	0	0	0	0	1	0	0	0	585	1261	44	4	520	4	AMPD1	1	115217434	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1745544	115217434	134033187	62	90604											
WARS2	10352	broad.mit.edu	37	chr1	119575735	119575735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagtgttcatgcccgcGctgcggcgcaccacttcctc	11	17	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:119575735G>A	uc001ehn.2	-	6	910	c.882C>T	c.(880-882)AGC>AGT	p.S294S	WARS2_uc010oxf.1_Silent_p.S200S|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.S237S|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	294					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	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)	TCATGCCCGCGCTGCGGCGCA	0.597													A	119575735	G	A	119575735	2	1	166	1	0	0	0	0	0	0	0	1	17247	1078	38	1		1	WARS2	1	119575735	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4358301	119575735	129674886	63	90605											
ADAM30	11085	broad.mit.edu	37	chr1	120437095	120437096	+	Frame_Shift_Ins	INS	-	-	T													gactgagctattgacgcaatINStttttttaaaacatacccgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:120437094_120437095A>AT	uc001eij.3	-	0	2053_2054	c.1865_1866T>AT	c.(1864-1866)aatfs	p.N622fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	622	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATTGACGCAATTTTTTTTAAA	0.446													T	120437096	-	T	120437095	7	5	166	1	0	1	1	0	0	0	0	0	248	1493	52	0	511	0	ADAM30	1	120437095	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	861360	120437095	128813526	64	90606											
ANKRD35	148741	broad.mit.edu	37	chr1	145561338	145561338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattcgagagcaggcgcaGgagctaggggtcctcctatc	14	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:145561338G>A	uc001eob.1	+	10	1134	c.1026G>A	c.(1024-1026)CAG>CAA	p.Q342Q	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.Q185Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	342	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCAGGCGCAGGAGCTAGGGG	0.572													A	145561338	G	A	145561338	2	1	166	1	0	0	0	0	0	0	0	1	664	991	35	4		4	ANKRD35	1	145561338	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	25124243	145561338	103689283	65	90607											
CHD1L	9557	broad.mit.edu	37	chr1	146757977	146757977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctggcctgctaaaggaTggcctggtgggaatccaaca	13	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:146757977T>C	uc001epm.3	+	18	2084	c.2021T>C	c.(2020-2022)ATG>ACG	p.M674T	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.M561T|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.M580T|CHD1L_uc010ozp.1_Missense_Mutation_p.M393T|CHD1L_uc001epo.3_Missense_Mutation_p.M470T|CHD1L_uc009wji.2_Missense_Mutation_p.M393T	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	674	Potential.			M -> V (in Ref. 2; BAA91637).	chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TGCTAAAGGATGGCCTGGTGG	0.488													C	146757977	T	C	146757977	3	2	166	1	0	0	0	0	1	0	0	0	3324	1464	51	3	2091	3	CHD1L	1	146757977	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1196639	146757977	102492644	66	90608											
GJA8	2703	broad.mit.edu	37	chr1	147380609	147380609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttcctgtacgggttccGgatcctgcctctgtaccgct	9	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:147380609G>A	uc001epu.1	+	2	590	c.527G>A	c.(526-528)CGG>CAG	p.R176Q		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	176	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					TACGGGTTCCGGATCCTGCCT	0.587													A	147380609	G	A	147380609	3	1	166	1	0	0	0	0	1	0	0	0	6405	1116	39	1	529	1	GJA8	1	147380609	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	622632	147380609	101870012	67	90609											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149398889	149398889	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcagcaggcgcacggcCgtctggatctcgcgggacgt	17	13	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:149398889C>T	uc010pbi.1	-	1		c.341G>A						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					GGCGCACGGCCGTCTGGATCT	0.647													T	149398889	C	T	149398889	1	4	166	0	1	0	0	0	0	0	0	0	7180	639	23	1		1	HIST2H2BF	1	149398889	RNA	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2018280	149398889	99851732	68	90610											
OTUD7B	56957	broad.mit.edu	37	chr1	149915984	149915984	+	Frame_Shift_Del	DEL	G	G	-													taggaatcagccactcggtaGgggggtggtaacaaggcacc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:149915983_149915983AG>A	uc001etn.3	-	11	2661	c.2305_2305CT>T	c.(2305-2307)tacfs	p.Y769fs		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	769					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|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)			GCCACTCGGTAGGGGGGTGGT	0.607													-	149915984	G	-	149915984	7	5	166	1	0	1	0	1	0	0	0	0	11319	987	35	0	231	0	OTUD7B	1	149915984	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	517095	149915984	99334637	69	90611											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530506	150530507	+	Frame_Shift_Ins	INS	-	-	GG													gcagtgccggcaggaatttgINSgggggggtggctcctcggtg					rs149280379		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:150530505_150530506T>TGG	uc009wlw.3	+	13	2489_2490	c.2331_2332T>TGG	c.(2329-2334)tttgggfs	p.F777fs	ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.F715fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	754	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.F754L(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)			GGCAGGAATTTGGGGGGGGTGG	0.693													GG	150530507	-	GG	150530506	7	5	166	1	0	1	1	0	0	0	0	0	277	1348	47	0	2309	0	ADAMTSL4	1	150530506	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	614522	150530506	98720115	70	90612											
SEMA6C	10500	broad.mit.edu	37	chr1	151108547	151108547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagcggggtccagcagcGggtgagccttgatgaaggtc	17	9	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151108547G>A	uc001ewu.2	-	13	1499	c.1199C>T	c.(1198-1200)CCG>CTG	p.P400L	SEMA6C_uc001ewv.2_Missense_Mutation_p.P400L|SEMA6C_uc001eww.2_Missense_Mutation_p.P360L|SEMA6C_uc010pcq.1_Missense_Mutation_p.P400L	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	400	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			GTCCAGCAGCGGGTGAGCCTT	0.587													A	151108547	G	A	151108547	3	1	166	1	0	0	0	0	1	0	0	0	14041	1116	39	1	1721	1	SEMA6C	1	151108547	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	578041	151108547	98142074	71	90613											
ZNF687	57592	broad.mit.edu	37	chr1	151261166	151261166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcctgtctgcacgtctctCgccgtgtaggatacaggtgc	13	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151261166C>T	uc001exq.2	+	3	2376	c.2278C>T	c.(2278-2280)CGC>TGC	p.R760C	ZNF687_uc009wmo.2_Missense_Mutation_p.R760C|ZNF687_uc009wmp.2_Missense_Mutation_p.R760C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			GCACGTCTCTCGCCGTGTAGG	0.562													T	151261166	C	T	151261166	3	4	166	1	0	0	0	0	1	0	0	0	18089	884	31	1	2284	1	ZNF687	1	151261166	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	152619	151261166	97989455	72	90614											
ZNF687	57592	broad.mit.edu	37	chr1	151263250	151263250	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgaggagcctgacagcacGacaccgccagccaagtcccc	11	16	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151263250G>A	uc001exq.2	+	9	3377	c.3279G>A	c.(3277-3279)ACG>ACA	p.T1093T	ZNF687_uc009wmo.2_Silent_p.T1093T|ZNF687_uc009wmp.2_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			CTGACAGCACGACACCGCCAG	0.622													A	151263250	G	A	151263250	2	1	166	1	0	0	0	0	0	0	0	1	18089	1045	37	1		1	ZNF687	1	151263250	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2084	151263250	97987371	73	90615											
CGN	57530	broad.mit.edu	37	chr1	151491196	151491196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcagccctttgtggtGctcaacagtggggagaaagg	17	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151491196G>A	uc009wmw.2	+	2	345	c.201G>A	c.(199-201)GTG>GTA	p.V67V		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	61	Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	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)			CCTTTGTGGTGCTCAACAGTG	0.592													A	151491196	G	A	151491196	2	1	166	1	0	0	0	0	0	0	0	1	3303	1306	46	2		2	CGN	1	151491196	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	227946	151491196	97759425	74	90616											
CGN	57530	broad.mit.edu	37	chr1	151508742	151508742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttctgcagtctaccaatcGaaaactggagcggaaagtta	10	8	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151508742G>A	uc009wmw.2	+	19	3371	c.3227G>A	c.(3226-3228)CGA>CAA	p.R1076Q	CGN_uc010pde.1_Missense_Mutation_p.R70Q	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1070	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	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)			TCTACCAATCGAAAACTGGAG	0.483													A	151508742	G	A	151508742	3	1	166	1	0	0	0	0	1	0	0	0	3303	1058	37	1	3297	1	CGN	1	151508742	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	17546	151508742	97741879	75	90617											
RORC	6097	broad.mit.edu	37	chr1	151785741	151785741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggaacagctccatgccaCcgtatttgccttcaaaaaag	7	13	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151785741C>T	uc001ezh.2	-	8	1256	c.1148G>A	c.(1147-1149)GGT>GAT	p.G383D	RORC_uc001ezg.2_Missense_Mutation_p.G362D|RORC_uc010pdo.1_Missense_Mutation_p.G437D|RORC_uc010pdp.1_Intron	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	383	Ligand-binding.				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			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATGCCACCGTATTTGCC	0.567													T	151785741	C	T	151785741	3	4	166	1	0	0	0	0	1	0	0	0	13530	507	18	4	424	4	RORC	1	151785741	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	276999	151785741	97464880	76	90618											
TCHHL1	126637	broad.mit.edu	37	chr1	152058006	152058006	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagactttctaacagagtatTctgggcctctgttgctcttc	8	10	4	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152058006T>G	uc001ezo.1	-	3	2217	c.2152A>C	c.(2152-2154)AAT>CAT	p.N718H		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	718							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AACAGAGTATTCTGGGCCTCT	0.443													G	152058006	T	G	152058006	3	3	166	1	0	0	0	0	1	0	0	0	15698	1783	62	5	566	5	TCHHL1	1	152058006	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	272265	152058006	97192615	77	90619											
FLG	2312	broad.mit.edu	37	chr1	152286125	152286125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgctagacccccggtgtcCacgatcgctgactgcagatg	11	15	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152286125C>T	uc001ezu.1	-	3	1273	c.1237G>A	c.(1237-1239)GGA>AGA	p.G413R	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	413	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGTGTCCACGATCGCTG	0.587									Ichthyosis				T	152286125	C	T	152286125	3	4	166	1	0	0	0	0	1	0	0	0	5922	603	21	4	10952	4	FLG	1	152286125	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	228119	152286125	96964496	78	90620											
LCE5A	254910	broad.mit.edu	37	chr1	152484143	152484143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgttcagccccatgcCcacctccagtctcttcctgc	6	20	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152484143C>A	uc001ezy.2	+	2	309	c.133C>A	c.(133-135)CCA>ACA	p.P45T	CRCT1_uc001ezz.2_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	45	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCATGCCCACCTCCAGT	0.502													A	152484143	C	A	152484143	3	1	166	1	0	0	0	0	1	0	0	0	8675	623	22	5	135	5	LCE5A	1	152484143	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	198018	152484143	96766478	79	90621											
KPRP	448834	broad.mit.edu	37	chr1	152732678	152732678	+	Frame_Shift_Del	DEL	C	C	-													ggctacctgcaacaactacaCcccccagttccagttgaggc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152732677_152732677AC>A	uc001fal.1	+	1	671	c.613_613AC>A	c.(613-615)accfs	p.T205fs	KPRP_uc021ozf.1_Frame_Shift_Del_p.T205fs	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	205	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)			CAACAACTACACCCCCCAGTT	0.572													-	152732678	C	-	152732678	7	5	166	1	0	1	0	1	0	0	0	0	8436	507	18	0	616	0	KPRP	1	152732678	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	248535	152732678	96517943	80	90622											
S100A7A	338324	broad.mit.edu	37	chr1	153390650	153390650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagattgagaagccaaGcctgctgacgatgatgaagg	14	7	0	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:153390650G>T	uc001fbt.1	+	2	149	c.92G>T	c.(91-93)AGC>ATC	p.S31I		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	31	EF-hand 1.					cytoplasm	calcium ion binding			skin(1)	1	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)			GAGAAGCCAAGCCTGCTGACG	0.488													T	153390650	G	T	153390650	3	4	166	1	0	0	0	0	1	0	0	0	13784	971	34	5	94	5	S100A7A	1	153390650	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	657972	153390650	95859971	81	90623											
KCNN3	3782	broad.mit.edu	37	chr1	154680583	154680583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcgatgatggcagacaGgagctgctgctgctgctggc	16	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:154680583G>T	uc001ffp.2	-	8	2379	c.2065C>A	c.(2065-2067)CTG>ATG	p.L689M	KCNN3_uc001ffo.2_Missense_Mutation_p.L384M	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	694						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGGCAGACAGGAGCTGCTGC	0.652													T	154680583	G	T	154680583	3	4	166	1	0	0	0	0	1	0	0	0	8080	991	35	5	134	5	KCNN3	1	154680583	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1289933	154680583	94570038	82	90624											
THBS3	7059	broad.mit.edu	37	chr1	155167338	155167338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcttccacatgactacGtagaagcggccactgtcttg	10	12	2	2	rs139408803		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155167338G>A	uc001fix.2	-	20	2438	c.2415C>T	c.(2413-2415)TAC>TAT	p.Y805Y	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.Y796Y|THBS3_uc001fiz.2_Silent_p.Y768Y|THBS3_uc001fiy.2_Silent_p.Y334Y|THBS3_uc010pfu.1_Silent_p.Y685Y	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	805	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	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)			ACATGACTACGTAGAAGCGGC	0.562													A	155167338	G	A	155167338	2	1	166	1	0	0	0	0	0	0	0	1	15852	1140	40	1		1	THBS3	1	155167338	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	486755	155167338	94083283	83	90625											
CLK2	1196	broad.mit.edu	37	chr1	155237889	155237889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacttctccacattcttaaTgatcttcagggcaactcgag	7	11	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155237889T>C	uc001fjy.2	-	6	873	c.583A>G	c.(583-585)ATT>GTT	p.I195V	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.I194V|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.I195V	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	195	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	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)			ACATTCTTAATGATCTTCAGG	0.473								Other_conserved_DNA_damage_response_genes					C	155237889	T	C	155237889	3	2	166	1	0	0	0	0	1	0	0	0	3537	1464	51	3	948	3	CLK2	1	155237889	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	70551	155237889	94012732	84	90626											
PKLR	5313	broad.mit.edu	37	chr1	155264997	155264997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatattggggtagtccaCccacacggtgttcgcgttcc	11	12	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155264997C>T	uc001fkb.3	-	5	643	c.604G>A	c.(604-606)GTG>ATG	p.V202M	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.V171M	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	202					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGGTAGTCCACCCACACGGTG	0.637													T	155264997	C	T	155264997	3	4	166	1	0	0	0	0	1	0	0	0	11976	507	18	4	1148	4	PKLR	1	155264997	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	27108	155264997	93985624	85	90627											
ASH1L	55870	broad.mit.edu	37	chr1	155449273	155449273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatatggcactgaactggGttcaacaaaacctgcatcac	7	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155449273G>A	uc009wqq.2	-	3	3868	c.3388C>T	c.(3388-3390)CCC>TCC	p.P1130S	ASH1L_uc001fkt.2_Missense_Mutation_p.P1130S|ASH1L_uc009wqr.1_Missense_Mutation_p.P1130S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1130					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			ACTGAACTGGGTTCAACAAAA	0.473													A	155449273	G	A	155449273	3	1	166	1	0	0	0	0	1	0	0	0	1041	1261	44	4	5610	4	ASH1L	1	155449273	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	184276	155449273	93801348	86	90628											
ASH1L	55870	broad.mit.edu	37	chr1	155451950	155451950	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgccagttcctaacttcttCggttttgtcttggaagactt	9	9	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155451950C>T	uc009wqq.2	-	3	1191	c.711G>A	c.(709-711)CCG>CCA	p.P237P	ASH1L_uc001fkt.2_Silent_p.P237P|ASH1L_uc009wqr.1_Silent_p.P237P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	237					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			CTAACTTCTTCGGTTTTGTCT	0.428													T	155451950	C	T	155451950	2	4	166	1	0	0	0	0	0	0	0	1	1041	871	31	1		1	ASH1L	1	155451950	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2677	155451950	93798671	87	90629											
PAQR6	79957	broad.mit.edu	37	chr1	156214585	156214585	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgtcctggtgccagcctttCaggcaggtgggaggcgaaga	17	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:156214585C>T	uc001fnu.1	-	7	797	c.727G>A	c.(727-729)GAA>AAA	p.E243K	PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Silent_p.L20L|PAQR6_uc001fnv.1_Missense_Mutation_p.E219K|PAQR6_uc010phg.1_Missense_Mutation_p.E240K|PAQR6_uc001fnx.1_Missense_Mutation_p.E137K|PAQR6_uc001fnw.1_Missense_Mutation_p.E137K|PAQR6_uc001fnz.1_Missense_Mutation_p.E137K|PAQR6_uc010phh.1_Missense_Mutation_p.E243K|PAQR6_uc001foa.1_Missense_Mutation_p.E137K|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	243	Extracellular (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					GCCAGCCTTTCAGGCAGGTGG	0.647													T	156214585	C	T	156214585	3	4	166	1	0	0	0	0	1	0	0	0	11439	835	29	4	654	4	PAQR6	1	156214585	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	762635	156214585	93036036	88	90630											
PYHIN1	149628	broad.mit.edu	37	chr1	158908274	158908274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtatcctgctacacctgCatgcaccccaagcaaccgtc	7	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:158908274C>T	uc001ftb.2	+	3	598	c.353C>T	c.(352-354)GCA>GTA	p.A118V	PYHIN1_uc001fta.3_Missense_Mutation_p.A118V|PYHIN1_uc001ftc.2_Missense_Mutation_p.A109V|PYHIN1_uc001ftd.2_Missense_Mutation_p.A118V|PYHIN1_uc001fte.2_Missense_Mutation_p.A109V	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	118					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					GCTACACCTGCATGCACCCCA	0.448													T	158908274	C	T	158908274	3	4	166	1	0	0	0	0	1	0	0	0	12865	710	25	2	359	2	PYHIN1	1	158908274	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2693689	158908274	90342347	89	90631											
PYHIN1	149628	broad.mit.edu	37	chr1	158911818	158911818	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagtaaaaatattttcCgagaagacccaataatcgcg	7	10	0	2	rs144716673		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:158911818C>T	uc001ftb.2	+	5	876	c.631C>T	c.(631-633)CGA>TGA	p.R211*	PYHIN1_uc001ftc.2_Nonsense_Mutation_p.R202*|PYHIN1_uc001ftd.2_Nonsense_Mutation_p.R211*|PYHIN1_uc001fte.2_Nonsense_Mutation_p.R202*	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	211	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					AAATATTTTCCGAGAAGACCC	0.373													T	158911818	C	T	158911818	4	4	166	1	0	0	0	0	0	1	0	0	12865	644	23	1	645	1	PYHIN1	1	158911818	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3544	158911818	90338803	90	90632											
DCAF8	50717	broad.mit.edu	37	chr1	160251955	160251955	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatgcctagcccctccatGgccttggtcagctcttcttc	7	17	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:160251955G>T	uc010pjc.1	-	3	299	c.27C>A	c.(25-27)GCC>GCA	p.A9A	PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Silent_p.A156A|PEX19_uc001fvt.2_Silent_p.A66A	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	Error:Variant_position_missing_in_Q5TAQ9_after_alignment						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						GCCCCTCCATGGCCTTGGTCA	0.522													T	160251955	G	T	160251955	2	4	166	1	0	0	0	0	0	0	0	1	4276	1335	47	5		5	DCAF8	1	160251955	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1340137	160251955	88998666	91	90633											
OLFML2B	25903	broad.mit.edu	37	chr1	161953686	161953686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagcaccccacagatgaCgaagcagttgccgtagaaat	9	11	0	3	rs141909728	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:161953686C>T	uc001gbu.2	-	8	2456	c.2032G>A	c.(2032-2034)GTC>ATC	p.V678I	OLFML2B_uc001gbt.2_Missense_Mutation_p.V161I|OLFML2B_uc010pkq.1_Missense_Mutation_p.V679I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	678	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCACAGATGACGAAGCAGTTG	0.572													T	161953686	C	T	161953686	3	4	166	1	0	0	0	0	1	0	0	0	10858	536	19	1	224	1	OLFML2B	1	161953686	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1701731	161953686	87296935	92	90634											
ADCY10	55811	broad.mit.edu	37	chr1	167802290	167802290	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtctgtttttctcgacatgGatatggagaaacaaggagat	11	5	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:167802290G>T	uc001ger.2	-	25	3826	c.3528C>A	c.(3526-3528)ATC>ATA	p.I1176I	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Silent_p.I1084I|ADCY10_uc010plj.1_Silent_p.I1023I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1176					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TCTCGACATGGATATGGAGAA	0.478													T	167802290	G	T	167802290	2	4	166	1	0	0	0	0	0	0	0	1	293	1164	41	5		5	ADCY10	1	167802290	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5848604	167802290	81448331	93	90635											
TIPRL	261726	broad.mit.edu	37	chr1	168169262	168169263	+	Frame_Shift_Ins	INS	-	-	A													cctaacccagcagactcacaINSaaaaagtacacaagtggaat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:168169261_168169262C>CA	uc001gfg.3	+	6	941_942	c.796_797C>CA	c.(796-798)caafs	p.Q266fs		NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	266	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					AGCAGACTCACAAAAAAGTACA	0.356													A	168169263	-	A	168169262	7	5	166	1	0	1	1	0	0	0	0	0	15923	130	5	0	848	0	TIPRL	1	168169262	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	366972	168169262	81081359	94	90636											
RC3H1	149041	broad.mit.edu	37	chr1	173951935	173951935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagaggcttgaggaaacCgtggctccaatctttgcacc	10	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:173951935C>T	uc001gju.3	-	4	785	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	RC3H1_uc010pms.1_Missense_Mutation_p.R233Q|RC3H1_uc001gjv.2_Missense_Mutation_p.R233Q|RC3H1_uc010pmt.1_Missense_Mutation_p.R233Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	233					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			ovary(2)	2						TTGAGGAAACCGTGGCTCCAA	0.433													T	173951935	C	T	173951935	3	4	166	1	0	0	0	0	1	0	0	0	13166	652	23	1	2767	1	RC3H1	1	173951935	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5782673	173951935	75298686	95	90637											
RABGAP1L	9910	broad.mit.edu	37	chr1	174780992	174780992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaggaagaccttctgcAggctgattttgaaggtgctt	11	8	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:174780992A>G	uc001gjx.2	+	19	2429	c.2234A>G	c.(2233-2235)CAG>CGG	p.Q745R	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_Missense_Mutation_p.Q52R|RABGAP1L_uc001gkd.3_Missense_Mutation_p.Q71R|RABGAP1L_uc001gke.3_Missense_Mutation_p.Q64R	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	745					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GACCTTCTGCAGGCTGATTTT	0.378													G	174780992	A	G	174780992	3	3	166	1	0	0	0	0	1	0	0	0	12965	188	7	3	2304	3	RABGAP1L	1	174780992	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	829057	174780992	74469629	96	90638											
ASTN1	460	broad.mit.edu	37	chr1	176918359	176918359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatacaaggtggggtcgtcCgggaagggcgccatctgctg	16	9	1	0	rs34739197		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:176918359C>T	uc001glc.2	-	12	2228	c.2016G>A	c.(2014-2016)CCG>CCA	p.P672P	ASTN1_uc001glb.1_Silent_p.P672P|ASTN1_uc001gld.1_Silent_p.P672P|ASTN1_uc009wwx.1_Silent_p.P672P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	680	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TGGGGTCGTCCGGGAAGGGCG	0.552											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	176918359	C	T	176918359	2	4	166	1	0	0	0	0	0	0	0	1	1064	639	23	1		1	ASTN1	1	176918359	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2137367	176918359	72332262	97	90639											
KIAA1614	57710	broad.mit.edu	37	chr1	180886022	180886022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcacatccctgacctcCgaggaggtctttgtccccag	10	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:180886022C>T	uc001gok.2	+	2	850	c.783C>T	c.(781-783)TCC>TCT	p.S261S		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	261										ovary(3)|skin(1)	4						CCCTGACCTCCGAGGAGGTCT	0.597													T	180886022	C	T	180886022	2	4	166	1	0	0	0	0	0	0	0	1	8248	639	23	1		1	KIAA1614	1	180886022	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3967663	180886022	68364599	98	90640											
LAMC2	3918	broad.mit.edu	37	chr1	183203528	183203529	+	Frame_Shift_Ins	INS	-	-	G													ctgcctcagaccactacgtgINSgggccaaatggctttaaaag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:183203527_183203528T>TG	uc001gqa.2	+	14	2560_2561	c.2246_2247T>TG	c.(2245-2247)gtgfs	p.V749fs	LAMC2_uc001gpz.4_Frame_Shift_Ins_p.V749fs|LAMC2_uc010poa.2_Frame_Shift_Ins_p.V449fs	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	749	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.V749M(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						GACCACTACGTGGGGCCAAATG	0.515													G	183203529	-	G	183203528	7	5	166	1	0	1	1	0	0	0	0	0	8615	1335	47	0	2305	0	LAMC2	1	183203528	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2317506	183203528	66047093	99	90641											
GLT25D2	23127	broad.mit.edu	37	chr1	183908027	183908027	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctatcccagtcggtggcCactgtctcattgtcccagat	9	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:183908027C>A	uc001gqr.2	-	12	2121	c.1749G>T	c.(1747-1749)GTG>GTT	p.V583V	GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Silent_p.V191V|GLT25D2_uc001gqq.2_Silent_p.V320V|GLT25D2_uc001gqs.2_Silent_p.V463V	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	583					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						AGTCGGTGGCCACTGTCTCAT	0.592													A	183908027	C	A	183908027	2	1	166	1	0	0	0	0	0	0	0	1	6467	581	21	5		5	GLT25D2	1	183908027	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	704499	183908027	65342594	100	90642											
C1orf25	81627	broad.mit.edu	37	chr1	185106864	185106864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaactctcacaactaccaAcacaaaatgttccagagcca	3	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:185106864A>T	uc001grf.3	-	10	1659	c.1387T>A	c.(1387-1389)TTG>ATG	p.L463M	C1orf25_uc010pon.1_Missense_Mutation_p.L307M	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	463						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ACAACTACCAACACAAAATGT	0.408													T	185106864	A	T	185106864	3	4	166	1	0	0	0	0	1	0	0	0	2034	40	2	5	838	5	C1orf25	1	185106864	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1198837	185106864	64143757	101	90643											
CDC73	79577	broad.mit.edu	37	chr1	193107230	193107230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggatgaagagtgtgtgCgccttgataaagagagattg	14	5	0	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:193107230C>T	uc001gtb.2	+	6	682	c.439C>T	c.(439-441)CGC>TGC	p.R147C		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	147					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.R147C(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						AGAGTGTGTGCGCCTTGATAA	0.363									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				T	193107230	C	T	193107230	3	4	166	1	0	0	0	0	1	0	0	0	3085	768	27	1	461	1	CDC73	1	193107230	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	8000366	193107230	56143391	102	90644											
CFH	3075	broad.mit.edu	37	chr1	196648770	196648770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatttcatgcaaatccCcagatgttataaatggatct	6	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:196648770C>T	uc001gtj.3	+	6	877	c.637C>T	c.(637-639)CCA>TCA	p.P213S	CFH_uc001gti.3_Missense_Mutation_p.P213S|CFH_uc009wyw.2_Missense_Mutation_p.P213S|CFH_uc009wyx.2_Missense_Mutation_p.P149S	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	213	Sushi 4.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						ATGCAAATCCCCAGATGTTAT	0.284													T	196648770	C	T	196648770	3	4	166	1	0	0	0	0	1	0	0	0	3283	623	22	4	659	4	CFH	1	196648770	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3541540	196648770	52601851	103	90645											
F13B	2165	broad.mit.edu	37	chr1	197026313	197026313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtggttcctcacaggctAccttctcctgtccttctgaa	9	13	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:197026313A>G	uc001gtt.1	-	7	1045	c.1001T>C	c.(1000-1002)GTA>GCA	p.V334A		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	334	Sushi 6.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTCACAGGCTACCTTCTCCTG	0.393													G	197026313	A	G	197026313	3	3	166	1	0	0	0	0	1	0	0	0	5341	391	14	3	1008	3	F13B	1	197026313	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	377543	197026313	52224308	104	90646											
NEK7	140609	broad.mit.edu	37	chr1	198222298	198222298	+	Frame_Shift_Del	DEL	A	A	-													gatggagtaccagtagctttAaaaaaagtgcaggtaagatg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:198222297_198222297TA>T	uc001gun.4	+	2	512	c.185_185TA>T	c.(184-186)ttafs	p.L62fs	NEK7_uc021pgx.1_Frame_Shift_Del_p.L62fs	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V65fs*5(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCAGTAGCTTTAAAAAAAGTG	0.318													-	198222298	A	-	198222298	7	5	166	1	0	1	0	1	0	0	0	0	10329	359	13	0	192	0	NEK7	1	198222298	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	1195985	198222298	51028323	105	90647											
KIF14	9928	broad.mit.edu	37	chr1	200522567	200522567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgagctcactgctggGgatgagccatggagctcata	12	11	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:200522567G>A	uc010ppk.1	-	30	5335	c.4896C>T	c.(4894-4896)TCC>TCT	p.S1632S	KIF14_uc010ppj.1_Silent_p.S1141S	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1632	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TCACTGCTGGGGATGAGCCAT	0.443													A	200522567	G	A	200522567	2	1	166	1	0	0	0	0	0	0	0	1	8276	1219	43	4		4	KIF14	1	200522567	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2300269	200522567	48728054	106	90648											
DDX59	83479	broad.mit.edu	37	chr1	200635556	200635557	+	Frame_Shift_Ins	INS	-	-	C													cagacaacacagatgggttcINSccctggttctgcccagcgct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:200635555_200635556T>TC	uc009wzk.3	-	1	556_557	c.313_314A>GA	c.(313-315)gaafs	p.E105fs	DDX59_uc010ppl.1_Frame_Shift_Ins_p.E105fs	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	105						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACAGATGGGTTCCCCTGGTTCT	0.47													C	200635557	-	C	200635556	7	5	166	1	0	1	1	0	0	0	0	0	4376	864	30	0	1574	0	DDX59	1	200635556	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	112989	200635556	48615065	107	90649											
LGR6	59352	broad.mit.edu	37	chr1	202163322	202163322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacctggaccccctgacgGcttacctgtgagtactgccc	12	15	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:202163322G>A	uc001gxu.2	+	1	205	c.205G>A	c.(205-207)GCT>ACT	p.A69T		NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	69	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity	p.299_300insGRS(1)		large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CCCCCTGACGGCTTACCTGTG	0.662													A	202163322	G	A	202163322	3	1	166	1	0	0	0	0	1	0	0	0	8758	1203	42	2	207	2	LGR6	1	202163322	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1527766	202163322	47087299	108	90650											
PPP1R12B	4660	broad.mit.edu	37	chr1	202318225	202318225	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcttctggcaagaggtgcTgatatcaacacggtcaacgt	11	9	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:202318225T>G	uc001gya.1	+	1	390	c.246T>G	c.(244-246)GCT>GCG	p.A82A	PPP1R12B_uc001gxy.2_Silent_p.A82A|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Silent_p.A82A|PPP1R12B_uc001gxz.1_Silent_p.A82A	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	82	ANK 1.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAAGAGGTGCTGATATCAACA	0.592													G	202318225	T	G	202318225	2	3	166	1	0	0	0	0	0	0	0	1	12355	1567	55	5		5	PPP1R12B	1	202318225	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	154903	202318225	46932396	109	90651											
OPTC	26254	broad.mit.edu	37	chr1	203465253	203465253	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcccagggaaggcgattcCtttgaagttctgcctctgcg	12	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:203465253C>A	uc001gzu.1	+	2	236	c.120C>A	c.(118-120)TCC>TCA	p.S40S		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	40						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGGCGATTCCTTTGAAGTTC	0.537													A	203465253	C	A	203465253	2	1	166	1	0	0	0	0	0	0	0	1	10888	668	24	5		5	OPTC	1	203465253	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1147028	203465253	45785368	110	90652											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		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)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	166	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	763158	204228411	45022210	111	90653											
TMCC2	9911	broad.mit.edu	37	chr1	205238752	205238752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccagccccaagtatggCagcgatgatgagtgctccag	12	12	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:205238752C>T	uc001hbz.1	+	4	1866	c.1422C>T	c.(1420-1422)GGC>GGT	p.G474G	TMCC2_uc010prf.1_Silent_p.G396G|TMCC2_uc001hca.2_Silent_p.G249G|TMCC2_uc001hcb.1_Silent_p.G234G|TMCC2_uc001hcc.1_Silent_p.G95G|TMCC2_uc001hcd.2_Silent_p.G241G	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	474						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAAGTATGGCAGCGATGATG	0.682													T	205238752	C	T	205238752	2	4	166	1	0	0	0	0	0	0	0	1	15990	697	25	2		2	TMCC2	1	205238752	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1010341	205238752	44011869	112	90654											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312590	205312590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggagtagacctcgaagCagtccatggggacgccgttg	16	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:205312590C>T	uc001hcf.1	-	2	711	c.143G>A	c.(142-144)TGC>TAC	p.C48Y	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.C48Y	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	48	Kelch 2.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GACCTCGAAGCAGTCCATGGG	0.721													T	205312590	C	T	205312590	3	4	166	1	0	0	0	0	1	0	0	0	8362	710	25	2	929	2	KLHDC8A	1	205312590	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	73838	205312590	43938031	113	90655											
CTSE	1510	broad.mit.edu	37	chr1	206328752	206328752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgttatgttctgctcCgagggctgccaggccattgt	13	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:206328752C>T	uc001hdu.2	+	7	937	c.819C>T	c.(817-819)TCC>TCT	p.S273S	CTSE_uc001hdv.2_Intron|CTSE_uc010prs.1_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	278					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGTTCTGCTCCGAGGGCTGCC	0.607													T	206328752	C	T	206328752	2	4	166	1	0	0	0	0	0	0	0	1	4033	639	23	1		1	CTSE	1	206328752	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1016162	206328752	42921869	114	90656											
CR1L	1379	broad.mit.edu	37	chr1	207881608	207881608	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagccaccaatttgtcaaCgtgagttgaaatctctttcc	7	10	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:207881608C>T	uc001hga.3	+	10	1535	c.1414C>T	c.(1414-1416)CAA>TAA	p.Q472*	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	472	Sushi 7.					cytoplasm|extracellular region|membrane					0						AATTTGTCAACGtgagttgaa	0.239													T	207881608	C	T	207881608	4	4	166	1	0	0	0	0	0	1	0	0	3841	550	19	1	1452	1	CR1L	1	207881608	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1552856	207881608	41369013	115	90657											
SLC30A1	7779	broad.mit.edu	37	chr1	211751694	211751694	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaacagaggccagtcaggaaGatggcgttcaccagagcccc	12	12	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:211751694G>A	uc001hio.1	-	1	406	c.261C>T	c.(259-261)ATC>ATT	p.I87I		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	87	Helical; (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CAGTCAGGAAGATGGCGTTCA	0.667													A	211751694	G	A	211751694	2	1	166	1	0	0	0	0	0	0	0	1	14553	932	33	4		4	SLC30A1	1	211751694	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3870086	211751694	37498927	116	90658											
TMEM206	55248	broad.mit.edu	37	chr1	212548597	212548598	+	Frame_Shift_Ins	INS	-	-	T													acaaaaaacaattgagcactINSttttttggcagctggcctct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:212548596_212548597C>CT	uc010pte.2	-	7	1180_1181	c.1012_1013G>AG	c.(1012-1014)agtfs	p.S338fs	TMEM206_uc001hjc.4_Frame_Shift_Ins_p.S277fs	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	277						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)		CAATTGAGCACTTTTTTTGGCA	0.396													T	212548598	-	T	212548597	7	5	166	1	0	1	1	0	0	0	0	0	16128	1609	56	0	231	0	TMEM206	1	212548597	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	796903	212548597	36702024	117	90659											
CENPF	1063	broad.mit.edu	37	chr1	214814768	214814768	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttattttactacaaagatgTgaagaaaccggaaatgcata	7	6	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:214814768T>C	uc001hkm.2	+	12	3261	c.3087T>C	c.(3085-3087)TGT>TGC	p.C1029C		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1029	Potential.				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TACAAAGATGTGAAGAAACCG	0.328													C	214814768	T	C	214814768	2	2	166	1	0	0	0	0	0	0	0	1	3231	1702	59	3		3	CENPF	1	214814768	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2266171	214814768	34435853	118	90660											
DISP1	84976	broad.mit.edu	37	chr1	223156446	223156446	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagacctttcaagttgccAaaaaggtaaagtaatctggg	9	8	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:223156446A>C	uc001hnu.1	+	3	681	c.534A>C	c.(532-534)CCA>CCC	p.P178P		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	178					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TCAAGTTGCCAAAAAGGTAAA	0.313													C	223156446	A	C	223156446	2	2	166	1	0	0	0	0	0	0	0	1	4539	117	5	5		5	DISP1	1	223156446	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	8341678	223156446	26094175	119	90661											
DISP1	84976	broad.mit.edu	37	chr1	223176379	223176379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcctattttctctatcGtgtagtatttcacttcgaat	5	8	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:223176379G>A	uc001hnu.1	+	8	1787	c.1640G>A	c.(1639-1641)CGT>CAT	p.R547H		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	547	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTTCTCTATCGTGTAGTATTT	0.358													A	223176379	G	A	223176379	3	1	166	1	0	0	0	0	1	0	0	0	4539	1145	40	1	1666	1	DISP1	1	223176379	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	19933	223176379	26074242	120	90662											
PSEN2	5664	broad.mit.edu	37	chr1	227075861	227075861	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctatatctaccttgggTaagtgacagataagcagcag	9	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:227075861T>C	uc009xeo.1	+	7	993	c.566_splice	c.e7+2	p.G189_splice	PSEN2_uc009xep.1_Splice_Site_p.G189_splice|PSEN2_uc001hqk.2_Splice_Site	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1						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			lung(2)	2		Prostate(94;0.0771)				CTACCTTGGGTAAGTGACAGA	0.517													C	227075861	T	C	227075861	5	2	166	1	0	0	0	0	0	0	1	0	12651	1652	57	3	582	3	PSEN2	1	227075861	Splice_Site	SNP	T	TCGA-CG-4306-01A-01D-1158-08	3899482	227075861	22174760	121	90663											
OBSCN	84033	broad.mit.edu	37	chr1	228476440	228476440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggagtggaggaaggggcGtgagagcctcagagatgggg	22	5	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:228476440G>A	uc009xez.1	+	38	10234	c.10190G>A	c.(10189-10191)CGT>CAT	p.R3397H	OBSCN_uc001hsn.2_Missense_Mutation_p.R3397H|OBSCN_uc001hsq.1_Missense_Mutation_p.R653H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3397	Ig-like 34.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGAAGGGGCGTGAGAGCCTC	0.622													A	228476440	G	A	228476440	3	1	166	1	0	0	0	0	1	0	0	0	10812	1145	40	1	10336	1	OBSCN	1	228476440	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1400579	228476440	20774181	122	90664											
OBSCN	84033	broad.mit.edu	37	chr1	228496852	228496852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgcagctcagtgagggCcaggatgccagcttccagtg	15	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:228496852C>T	uc009xez.1	+	48	12836	c.12792C>T	c.(12790-12792)GGC>GGT	p.G4264G	OBSCN_uc001hsn.2_Silent_p.G4264G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4264	Ig-like 44.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCAGTGAGGGCCAGGATGCCA	0.647													T	228496852	C	T	228496852	2	4	166	1	0	0	0	0	0	0	0	1	10812	726	26	2		2	OBSCN	1	228496852	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	20412	228496852	20753769	123	90665											
OBSCN	84033	broad.mit.edu	37	chr1	228556592	228556593	+	Frame_Shift_Ins	INS	-	-	T													gtgagcgaagcctccgacatINSttggtgagtgggtggctggg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:228556591_228556592A>AT	uc009xez.1	+	88	19980_19981	c.19936_19937A>AT	c.(19936-19938)attfs	p.I6646fs	OBSCN_uc001hsr.1_Frame_Shift_Ins_p.I1275fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6646	Protein kinase 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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGCCTCCGACATTTGGTGAGTG	0.634													T	228556593	-	T	228556592	7	5	166	1	0	1	1	0	0	0	0	0	10812	1493	52	0	21497	0	OBSCN	1	228556592	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	59740	228556592	20694029	124	90666											
DISC1	27185	broad.mit.edu	37	chr1	231830287	231830287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgaggacccgcgatgTctctctcggcccttcagtct	9	17	5	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:231830287T>C	uc001huz.2	+	2	836	c.783T>C	c.(781-783)TGT>TGC	p.C261C	TSNAX-DISC1_uc010pwe.1_Silent_p.C216C|TSNAX-DISC1_uc010pwf.1_Silent_p.C216C|TSNAX-DISC1_uc010pwg.1_Silent_p.C250C|TSNAX-DISC1_uc010pwh.1_Silent_p.C216C|TSNAX-DISC1_uc010pwi.1_Silent_p.C216C|TSNAX-DISC1_uc010pwj.1_Silent_p.C250C|TSNAX-DISC1_uc010pwk.1_Silent_p.C250C|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Silent_p.C261C|DISC1_uc010pwp.1_Silent_p.C261C|DISC1_uc010pwq.1_Silent_p.C261C|DISC1_uc010pwr.1_Silent_p.C261C|DISC1_uc010pws.1_Silent_p.C261C|DISC1_uc010pwt.1_Silent_p.C261C|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.C261C|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.C261C|DISC1_uc010pxb.1_Silent_p.C261C|DISC1_uc010pxc.1_Silent_p.C261C|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Silent_p.C261C|DISC1_uc009xfr.2_Silent_p.C216C|DISC1_uc010pxf.1_Silent_p.C261C|DISC1_uc010pxg.1_Silent_p.C261C|DISC1_uc010pxh.1_Silent_p.C261C|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Silent_p.C261C|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Silent_p.C261C|DISC1_uc010pwm.1_Silent_p.C261C|DISC1_uc001hux.1_Silent_p.C261C|DISC1_uc001hvc.3_Silent_p.C261C|DISC1_uc010pwn.1_Silent_p.C261C	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	261	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			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACCCGCGATGTCTCTCTCGGC	0.622													C	231830287	T	C	231830287	2	2	166	1	0	0	0	0	0	0	0	1	4538	1673	58	3		3	DISC1	1	231830287	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	3273695	231830287	17420334	125	90667											
KIAA1383	54627	broad.mit.edu	37	chr1	232941415	232941415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtttaccctcctgacGgccccggcgctcccgccgcc	11	19	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:232941415G>A	uc001hvh.2	+	1	778	c.646G>A	c.(646-648)GGC>AGC	p.G216S		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	74										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CCCTCCTGACGGCCCCGGCGC	0.652													A	232941415	G	A	232941415	3	1	166	1	0	0	0	0	1	0	0	0	8228	1116	39	1	648	1	KIAA1383	1	232941415	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1111128	232941415	16309206	126	90668											
PCNXL2	80003	broad.mit.edu	37	chr1	233372595	233372595	+	Frame_Shift_Del	DEL	G	G	-													tctggaatgtacgtacccgtGgggtttccgactgggtcctg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233372594_233372594TG>T	uc001hvl.2	-	8	2590	c.2355_2355CA>A	c.(2353-2355)ccafs	p.P785fs	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Frame_Shift_Del_p.P84fs	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	785						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)				TACGTACCCGTGGGGTTTCCG	0.507													-	233372595	G	-	233372595	7	5	166	1	0	1	0	1	0	0	0	0	11592	1348	47	0	4163	0	PCNXL2	1	233372595	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	431180	233372595	15878026	127	90669											
PCNXL2	80003	broad.mit.edu	37	chr1	233394457	233394457	+	Frame_Shift_Del	DEL	G	G	-													ccaaatctgtcatggagtttGgggtactgctcatcgtgata							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233394456_233394456TG>T	uc001hvl.2	-	4	1387	c.1152_1152CA>A	c.(1150-1152)ccafs	p.P384fs	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	384						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)				TCATGGAGTTTGGGGTACTGC	0.507													-	233394457	G	-	233394457	7	5	166	1	0	1	0	1	0	0	0	0	11592	1348	47	0	5382	0	PCNXL2	1	233394457	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	21862	233394457	15856164	128	90670											
KIAA1804	84451	broad.mit.edu	37	chr1	233497844	233497844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcgggcggctctgcagCagaagtctcaggaggagctg	16	10	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233497844C>T	uc001hvt.3	+	5	1618	c.1357C>T	c.(1357-1359)CAG>TAG	p.Q453*	KIAA1804_uc001hvs.1_Nonsense_Mutation_p.Q453*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	453					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGCTCTGCAGCAGAAGTCTCA	0.582													T	233497844	C	T	233497844	4	4	166	1	0	0	0	0	0	1	0	0	8259	711	25	2	1375	2	KIAA1804	1	233497844	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	103387	233497844	15752777	129	90671											
KIAA1804	84451	broad.mit.edu	37	chr1	233514890	233514890	+	Frame_Shift_Del	DEL	C	C	-													tacgaatagtctgagtagatCcccccagagaaagaaaacgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233514889_233514889TC>T	uc001hvt.4	+	8	2398	c.2137_2137TC>T	c.(2137-2139)tccfs	p.S713fs	KIAA1804_uc001hvu.4_Frame_Shift_Del_p.S159fs	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	713					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TCTGAGTAGATCCCCCCAGAG	0.537													-	233514890	C	-	233514890	7	5	166	1	0	1	0	1	0	0	0	0	8259	855	30	0	2172	0	KIAA1804	1	233514890	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	17046	233514890	15735731	130	90672											
RYR2	6262	broad.mit.edu	37	chr1	237872219	237872219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaaactcatttcttgccGttaatggagaaactcaagaa	7	7	3	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:237872219G>A	uc001hyl.1	+	69	10083	c.9963G>A	c.(9961-9963)CCG>CCA	p.P3321P	RYR2_uc010pxz.1_Silent_p.P276P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3321					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			ATTTCTTGCCGTTAATGGAGA	0.443													A	237872219	G	A	237872219	2	1	166	1	0	0	0	0	0	0	0	1	13769	1132	40	1		1	RYR2	1	237872219	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4357329	237872219	11378402	131	90673											
RYR2	6262	broad.mit.edu	37	chr1	237947592	237947592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctttgtgaacttctgcGaggacaccatctttgaaatg	8	9	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:237947592G>A	uc001hyl.1	+	90	12700	c.12580G>A	c.(12580-12582)GAG>AAG	p.E4194K	RYR2_uc010pya.1_Missense_Mutation_p.E609K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4194					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GAACTTCTGCGAGGACACCAT	0.512													A	237947592	G	A	237947592	3	1	166	1	0	0	0	0	1	0	0	0	13769	1059	37	1	12938	1	RYR2	1	237947592	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	75373	237947592	11303029	132	90674											
FMN2	56776	broad.mit.edu	37	chr1	240370335	240370335	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcataggattttagaggcGaaatcgatacagacttcccc	8	10	1	2	rs144753167		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:240370335G>A	uc010pyd.1	+	5	2448	c.2223G>A	c.(2221-2223)GCG>GCA	p.A741A	FMN2_uc010pye.1_Silent_p.A745A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	741					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTAGAGGCGAAATCGATAC	0.562													A	240370335	G	A	240370335	2	1	166	1	0	0	0	0	0	0	0	1	5950	1045	37	1		1	FMN2	1	240370335	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2422743	240370335	8880286	133	90675											
CNST	163882	broad.mit.edu	37	chr1	246797236	246797236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctattcagatgagaaagcAatgaaattcattcagctaga	7	6	4	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:246797236A>G	uc001ibp.2	+	5	1005	c.627A>G	c.(625-627)GCA>GCG	p.A209A	CNST_uc001ibo.3_Silent_p.A209A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	209					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						ATGAGAAAGCAATGAAATTCA	0.343													G	246797236	A	G	246797236	2	3	166	1	0	0	0	0	0	0	0	1	3634	117	5	3		3	CNST	1	246797236	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	6426901	246797236	2453385	134	90676											
ZNF496	84838	broad.mit.edu	37	chr1	247464565	247464565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgttctctagagatcgCgggttgccgccagctacagg	14	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:247464565C>T	uc001ico.2	-	9	1485	c.1020G>A	c.(1018-1020)CCG>CCA	p.P340P	ZNF496_uc009xgv.2_Silent_p.P376P|ZNF496_uc001icp.2_Silent_p.P340P	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	340					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			CTAGAGATCGCGGGTTGCCGC	0.602													T	247464565	C	T	247464565	2	4	166	1	0	0	0	0	0	0	0	1	17942	755	27	1		1	ZNF496	1	247464565	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	667329	247464565	1786056	135	90677											
OR11L1	391189	broad.mit.edu	37	chr1	248005039	248005039	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacataggggagtgcagtcGcaggccctggctcaccacgg	15	12	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248005039G>A	uc001idn.1	-	1	160	c.160C>T	c.(160-162)CGA>TGA	p.R54*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	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)			GAGTGCAGTCGCAGGCCCTGG	0.537													A	248005039	G	A	248005039	4	1	166	1	0	0	0	0	0	1	0	0	10930	1095	38	1	812	1	OR11L1	1	248005039	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	540474	248005039	1245582	136	90678											
OR2T8	343172	broad.mit.edu	37	chr1	248084551	248084552	+	Frame_Shift_Ins	INS	-	-	A													ggtttccaccactgtgcccaINSaaatggcggctgactacttg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248084550_248084551C>CA	uc010pzc.2	+	0	231_232	c.231_232C>CA	c.(229-234)cccaaafs	p.P77fs		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACTGTGCCCAAAATGGCGGC	0.579													A	248084552	-	A	248084551	7	5	166	1	0	1	1	0	0	0	0	0	11030	131	5	0	234	0	OR2T8	1	248084551	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	79512	248084551	1166070	137	90679											
OR2L8	391190	broad.mit.edu	37	chr1	248112877	248112877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaagcctatttgaccTgcagcacccacctcactgta	8	13	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248112877T>C	uc001idt.1	+	1	718	c.718T>C	c.(718-720)TGC>CGC	p.C240R	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			CTATTTGACCTGCAGCACCCA	0.458													C	248112877	T	C	248112877	3	2	166	1	0	0	0	0	1	0	0	0	11009	1580	55	3	720	3	OR2L8	1	248112877	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	28326	248112877	1137744	138	90680											
OR2T2	401992	broad.mit.edu	37	chr1	248616240	248616240	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagccaacttggtcatgattCtgctcatccacatggactcc	7	14	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248616240C>G	uc001iek.1	+	1	142	c.142C>G	c.(142-144)CTG>GTG	p.L48V		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			GGTCATGATTCTGCTCATCCA	0.517													G	248616240	C	G	248616240	3	3	166	1	0	0	0	0	1	0	0	0	11020	912	32	5	144	5	OR2T2	1	248616240	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	503363	248616240	634381	139	90681											
SNTG2	54221	broad.mit.edu	37	chr2	1263213	1263213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctatttaaagttcacaaGgtaggtatcttttgcacttc	8	7	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:1263213G>A	uc002qwq.2	+	13	1205	c.1077G>A	c.(1075-1077)AAG>AAA	p.K359K	SNTG2_uc010ewi.2_Silent_p.K232K	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	359	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	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)		AAGTTCACAAGGTAGGTATCT	0.433													A	1263213	G	A	1263213	2	1	166	1	0	0	0	0	0	0	0	1	14875	1014	35	4		4	SNTG2	2	1263213	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08		1263213	241936160	140	90682											
LPIN1	23175	broad.mit.edu	37	chr2	11964797	11964797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtcgaccacgttttcccGttgctgaaaagaagccattc	9	11	0	2	rs114931326	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:11964797G>A	uc010yjn.1	+	21	2827	c.2553G>A	c.(2551-2553)CCG>CCA	p.P851P	LPIN1_uc010yjm.1_Silent_p.P936P|LPIN1_uc002rbt.2_Silent_p.P851P|LPIN1_uc010yjo.1_Silent_p.P352P	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	851					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACGTTTTCCCGTTGCTGAAAA	0.498													A	11964797	G	A	11964797	2	1	166	1	0	0	0	0	0	0	0	1	8918	1132	40	1		1	LPIN1	2	11964797	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	10701584	11964797	231234576	141	90683											
NBAS	51594	broad.mit.edu	37	chr2	15613424	15613424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggtcagtatccaggccGtaggtatgagccaaggacaa	12	9	1	1	rs138310172		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:15613424G>A	uc002rcc.1	-	16	1673	c.1647C>T	c.(1645-1647)TAC>TAT	p.Y549Y	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	549										ovary(2)|liver(1)|skin(1)	4						TATCCAGGCCGTAGGTATGAG	0.408													A	15613424	G	A	15613424	2	1	166	1	0	0	0	0	0	0	0	1	10186	1140	40	1		1	NBAS	2	15613424	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3648627	15613424	227585949	142	90684											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-													aatgttttccgcttctacagTttttttatcattctgtaact							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:17698736_17698736GT>G	uc002rcl.1	-	0	971	c.947_947AC>C	c.(946-948)actfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATC	0.328													-	17698737	T	-	17698737	7	5	166	1	0	1	0	1	0	0	0	0	12987	1725	60	0	2545	0	RAD51AP2	2	17698737	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2085313	17698737	225500636	143	90685											
HS1BP3	64342	broad.mit.edu	37	chr2	20845204	20845204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccagacatcatcttgcCccgtacctcctggtgctggg	11	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:20845204C>A	uc002rdw.1	-	2	135	c.94G>T	c.(94-96)GGC>TGC	p.G32C	HS1BP3_uc002rdx.2_Missense_Mutation_p.G32C|HS1BP3_uc002rdy.2_Missense_Mutation_p.G32C	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	32	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCATCTTGCCCCGTACCTCC	0.607													A	20845204	C	A	20845204	3	1	166	1	0	0	0	0	1	0	0	0	7361	623	22	5	1108	5	HS1BP3	2	20845204	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3146467	20845204	222354169	144	90686											
APOB	338	broad.mit.edu	37	chr2	21228330	21228330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagggaatcaaggagtcttCtggttgagaatattttgtta	11	3	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:21228330C>T	uc002red.2	-	26	11538	c.11410G>A	c.(11410-11412)GAA>AAA	p.E3804K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3804					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGGAGTCTTCTGGTTGAGAA	0.423													T	21228330	C	T	21228330	3	4	166	1	0	0	0	0	1	0	0	0	785	922	32	4	2297	4	APOB	2	21228330	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	383126	21228330	221971043	145	90687											
APOB	338	broad.mit.edu	37	chr2	21228376	21228376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacttcagggaattttacCtcggggagtgttggtaggtt	13	6	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:21228376C>T	uc002red.2	-	26	11492	c.11364G>A	c.(11362-11364)GAG>GAA	p.E3788E		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3788					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATTTTACCTCGGGGAGTG	0.398													T	21228376	C	T	21228376	2	4	166	1	0	0	0	0	0	0	0	1	785	680	24	4		4	APOB	2	21228376	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	46	21228376	221970997	146	90688											
APOB	338	broad.mit.edu	37	chr2	21265342	21265342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcttgaatcgggtcGcatcttctaacgtggggaga	16	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:21265342G>A	uc002red.2	-	3	256	c.128C>T	c.(127-129)GCG>GTG	p.A43V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	43	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAATCGGGTCGCATCTTCTAA	0.517											OREG0014485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21265342	G	A	21265342	3	1	166	1	0	0	0	0	1	0	0	0	785	1087	38	1	13671	1	APOB	2	21265342	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	36966	21265342	221934031	147	90689											
C2orf79	391356	broad.mit.edu	37	chr2	25013338	25013338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttccttggggtagggcCggagagcaatacaagtggcg	15	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:25013338C>T	uc002rfm.2	-	2	370	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	CENPO_uc002rfn.2_5'Flank|CENPO_uc002rfo.1_5'Flank|CENPO_uc002rfp.1_5'Flank|CENPO_uc002rfq.1_5'Flank	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN	hypothetical protein LOC391356	122					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity				0						GGGGTAGGGCCGGAGAGCAAT	0.502													T	25013338	C	T	25013338	3	4	166	1	0	0	0	0	1	0	0	0	2196	652	23	1	61	1	C2orf79	2	25013338	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3747996	25013338	218186035	148	90690											
DNMT3A	1788	broad.mit.edu	37	chr2	25464521	25464521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggagtcctcacacacCtccgaggcaatgtagcggtc	12	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:25464521C>A	uc002rgc.2	-	17	2249	c.1992G>T	c.(1990-1992)GAG>GAT	p.E664D	DNMT3A_uc002rgd.2_Missense_Mutation_p.E664D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.E475D	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	664					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCACACACCTCCGAGGCAA	0.597			Mis|F|N|S		AML								A	25464521	C	A	25464521	3	1	166	1	0	0	0	0	1	0	0	0	4676	680	24	5	774	5	DNMT3A	2	25464521	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	451183	25464521	217734852	149	90691											
EMILIN1	11117	broad.mit.edu	37	chr2	27305168	27305168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatgagatccagcaccaGctgcagctcctggacacccg	9	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:27305168G>A	uc002rii.3	+	4	1157	c.729G>A	c.(727-729)CAG>CAA	p.Q243Q	EMILIN1_uc010eyq.1_Silent_p.Q243Q|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	243	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGCACCAGCTGCAGCTCC	0.647													A	27305168	G	A	27305168	2	1	166	1	0	0	0	0	0	0	0	1	5093	962	34	2		2	EMILIN1	2	27305168	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1840647	27305168	215894205	150	90692											
CAD	790	broad.mit.edu	37	chr2	27456970	27456970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgcattcaggtgatgCgacgctggtgacccccccac	13	13	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:27456970C>T	uc002rji.2	+	22	3656	c.3494C>T	c.(3493-3495)GCG>GTG	p.A1165V	CAD_uc010eyw.2_Missense_Mutation_p.A1102V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1165	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCAGGTGATGCGACGCTGGTG	0.582													T	27456970	C	T	27456970	3	4	166	1	0	0	0	0	1	0	0	0	2565	768	27	1	3580	1	CAD	2	27456970	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	151802	27456970	215742403	151	90693											
EIF2B4	8890	broad.mit.edu	37	chr2	27587741	27587741	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccgttggccaagagtgcatGagctcccaatagcaccttgg	11	13	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:27587741G>A	uc002rkb.2	-	12	1359	c.1216C>T	c.(1216-1218)CAT>TAT	p.H406Y	EIF2B4_uc002rjz.2_Missense_Mutation_p.H426Y|EIF2B4_uc002rka.2_Missense_Mutation_p.H391Y|EIF2B4_uc002rkc.2_Missense_Mutation_p.H405Y|EIF2B4_uc002rkd.2_Missense_Mutation_p.H200Y|EIF2B4_uc002rke.2_Missense_Mutation_p.H375Y	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	406					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGTGCATGAGCTCCCAAT	0.488													A	27587741	G	A	27587741	3	1	166	1	0	0	0	0	1	0	0	0	5003	1290	45	4	363	4	EIF2B4	2	27587741	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	130771	27587741	215611632	152	90694											
PPP1CB	5500	broad.mit.edu	37	chr2	29022154	29022154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcgaacagctaatccGccgaagaaaaggtgaagaaa	9	11	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:29022154G>A	uc002rmg.2	+	9	1129	c.969G>A	c.(967-969)CCG>CCA	p.P323P	PPP1CB_uc010ymj.1_Silent_p.P295P|PPP1CB_uc010yml.1_Silent_p.P295P|PPP1CB_uc002rmh.2_Silent_p.P323P|SPDYA_uc002rmi.2_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta	323					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAGCTAATCCGCCGAAGAAAA	0.383													A	29022154	G	A	29022154	2	1	166	1	0	0	0	0	0	0	0	1	12350	1074	38	1		1	PPP1CB	2	29022154	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1434413	29022154	214177219	153	90695											
XDH	7498	broad.mit.edu	37	chr2	31572970	31572970	+	Frame_Shift_Del	DEL	C	C	-													gcaatgagcatcccctggggCcccccaaagccccggaaggc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:31572969_31572969GC>G	uc002rnv.1	-	24	2831	c.2752_2752GC>C	c.(2752-2754)cccfs	p.P918fs		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	918					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	p.G917G(1)		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)	ATCCCCTGGGGCCCCCCAAAG	0.572													-	31572970	C	-	31572970	7	5	166	1	0	1	0	1	0	0	0	0	17423	726	26	0	1298	0	XDH	2	31572970	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	2550816	31572970	211626403	154	90696											
NLRC4	58484	broad.mit.edu	37	chr2	32476488	32476488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagggtcagctgctccaCgcggtgatggtgttggtcct	14	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:32476488C>T	uc002roi.2	-	4	691	c.445G>A	c.(445-447)GTG>ATG	p.V149M	NLRC4_uc002roj.1_Missense_Mutation_p.V149M|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	149					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			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGCTGCTCCACGCGGTGATGG	0.502													T	32476488	C	T	32476488	3	4	166	1	0	0	0	0	1	0	0	0	10469	536	19	1	2653	1	NLRC4	2	32476488	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	903518	32476488	210722885	155	90697											
BIRC6	57448	broad.mit.edu	37	chr2	32824935	32824935	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactggtggtcatagcgtgCgattcaatccaaacctttat	8	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:32824935C>T	uc010ezu.2	+	70	14094	c.13960C>T	c.(13960-13962)CGA>TGA	p.R4654*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4654	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCATAGCGTGCGATTCAATCC	0.358													T	32824935	C	T	32824935	4	4	166	1	0	0	0	0	0	1	0	0	1438	760	27	1	14238	1	BIRC6	2	32824935	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	348447	32824935	210374438	156	90698											
LTBP1	4052	broad.mit.edu	37	chr2	33500077	33500077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctctgctcccagggccGctgtgaaaacaccgagggaa	11	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:33500077G>A	uc002ros.2	+	17	2792	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H	LTBP1_uc002rot.2_Missense_Mutation_p.R605H|LTBP1_uc002rou.2_Missense_Mutation_p.R604H|LTBP1_uc002rov.2_Missense_Mutation_p.R551H|LTBP1_uc010ymz.1_Missense_Mutation_p.R604H|LTBP1_uc010yna.1_Missense_Mutation_p.R551H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	930	EGF-like 5; 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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCCCAGGGCCGCTGTGAAAAC	0.428													A	33500077	G	A	33500077	3	1	166	1	0	0	0	0	1	0	0	0	9073	1087	38	1	2910	1	LTBP1	2	33500077	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	675142	33500077	209699296	157	90699											
SULT6B1	391365	broad.mit.edu	37	chr2	37414569	37414569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacttttttttagaaacagCatatattaattcactgacaa	3	6	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:37414569C>A	uc002rpu.2	-	2	148	c.127G>T	c.(127-129)GCT>TCT	p.A43S	SULT6B1_uc010yni.1_RNA	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	81						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				TTAGAAACAGCATATATTAAT	0.333													A	37414569	C	A	37414569	3	1	166	1	0	0	0	0	1	0	0	0	15381	710	25	5	694	5	SULT6B1	2	37414569	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3914492	37414569	205784804	158	90700											
CEBPZ	10153	broad.mit.edu	37	chr2	37430154	37430154	+	Splice_Site	DEL	A	A	-													ttttcttttttcttggccctAaaaaaaattgtaagtctaca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269													-	37430154	A	-	37430154	8	5	166	1	0	1	0	1	0	0	1	0	3204	377	13	0		0	CEBPZ	2	37430154	Splice_Site	DEL	A	TCGA-CG-4306-01A-01D-1158-08	15585	37430154	205769219	159	90701											
FAM82A1	151393	broad.mit.edu	37	chr2	38224583	38224584	+	Frame_Shift_Del	DEL	AA	AA	-													caaaactgagctggattgagAaaaaaatggctgctactctg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:38224582_38224583GAA>G	uc002rqn.2	+	7	1629_1630	c.1503_1504GAA>G	c.(1501-1506)gagaaafs	p.E501fs	FAM82A1_uc002rqk.1_Frame_Shift_Del_p.E178fs|FAM82A1_uc002rql.3_Frame_Shift_Del_p.E323fs|FAM82A1_uc021vga.1_Frame_Shift_Del_p.E323fs|FAM82A1_uc002rqm.3_Frame_Shift_Del_p.E178fs	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	323						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GCTGGATTGAGAAAAAAATGGC	0.356													-	38224584	AA	-	38224583	7	5	166	1	0	1	0	1	0	0	0	0	5630	247	9	0	1990	0	FAM82A1	2	38224583	Frame_Shift_Del	DEL	AA	TCGA-CG-4306-01A-01D-1158-08	794429	38224583	204974790	160	90702											
RHOQ	23433	broad.mit.edu	37	chr2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-													actccaaagaaacacactgtAaaaaaaagaataggatcaag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368													-	46808174	A	-	46808174	7	5	166	1	0	1	0	1	0	0	0	0	13342	349	13	0	588	0	RHOQ	2	46808174	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	8583591	46808174	196391199	161	90703											
MTIF2	4528	broad.mit.edu	37	chr2	55489517	55489517	+	Frame_Shift_Del	DEL	T	T	-													caatccatacttctaccaccTttttagattttgttgaagat					rs35432898		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:55489516_55489516CT>C	uc002ryn.3	-	5	1004	c.267_267AG>G	c.(265-267)aagfs	p.K89fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.K89fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	89					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTTCTACCACCTTTTTAGATT	0.333													-	55489517	T	-	55489517	7	5	166	1	0	1	0	1	0	0	0	0	9934	1609	56	0	1965	0	MTIF2	2	55489517	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	8681343	55489517	187709856	162	90704											
CCDC88A	55704	broad.mit.edu	37	chr2	55561925	55561926	+	Frame_Shift_Ins	INS	-	-	T													tttttaaagctatccaatgtINStttttttaattttctatttt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:55561924_55561925G>GT	uc002ryv.2	-	14	2874_2875	c.2032_2033C>AC	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|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						GCTATCCAATGTTTTTTTTAAT	0.287													T	55561926	-	T	55561925	7	5	166	1	0	1	1	0	0	0	0	0	2863	1725	60	0	3655	0	CCDC88A	2	55561925	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	72408	55561925	187637448	163	90705											
CCDC85A	114800	broad.mit.edu	37	chr2	56420368	56420368	+	Frame_Shift_Del	DEL	G	G	-													atcttcagaaacacgctcttGgggggagcctagagcatctc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:56420367_56420367TG>T	uc002rzn.3	+	1	1534	c.1032_1032TG>T	c.(1030-1032)cttfs	p.L344fs	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	344	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)			AACACGCTCTTGGGGGGAGCC	0.622													-	56420368	G	-	56420368	7	5	166	1	0	1	0	1	0	0	0	0	2859	1348	47	0	1039	0	CCDC85A	2	56420368	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	858443	56420368	186779005	164	90706											
KIAA1841	84542	broad.mit.edu	37	chr2	61319641	61319641	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtatttgaatagtcttttCgaagaattaaaatcttggag	9	3	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:61319641C>T	uc002saw.3	+	11	1434	c.1131C>T	c.(1129-1131)TTC>TTT	p.F377F	KIAA1841_uc002sax.3_Silent_p.F231F|KIAA1841_uc002say.2_Silent_p.F377F	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	377											0			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313													T	61319641	C	T	61319641	2	4	166	1	0	0	0	0	0	0	0	1	8261	883	31	1		1	KIAA1841	2	61319641	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4899273	61319641	181879732	165	90707											
USP34	9736	broad.mit.edu	37	chr2	61433932	61433932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgtagacttcaaaacCgaaagaaatattgacagaag	11	6	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:61433932C>T	uc002sbe.2	-	71	9031	c.9009G>A	c.(9007-9009)TCG>TCA	p.S3003S	USP34_uc002sbd.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3003					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACTTCAAAACCGAAAGAAATA	0.373													T	61433932	C	T	61433932	2	4	166	1	0	0	0	0	0	0	0	1	17062	639	23	1		1	USP34	2	61433932	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	114291	61433932	181765441	166	90708											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		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)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	166	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-CG-4306-01A-01D-1158-08	143595	61577527	181621846	167	90709											
OTX1	5013	broad.mit.edu	37	chr2	63282962	63282962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgcccgcgtccgtgtcGgtgccggagccattggccgc	15	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:63282962G>A	uc002scd.2	+	5	824	c.576G>A	c.(574-576)TCG>TCA	p.S192S	OTX1_uc010ypt.1_Silent_p.S126S	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	192						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CGTCCGTGTCGGTGCCGGAGC	0.682													A	63282962	G	A	63282962	2	1	166	1	0	0	0	0	0	0	0	1	11320	1103	39	1		1	OTX1	2	63282962	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1705435	63282962	179916411	168	90710											
ANTXR1	84168	broad.mit.edu	37	chr2	69271944	69271944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgaaactgacagaagacAggtaaggatacttcttatct	8	6	2	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:69271944A>G	uc002sfg.2	+	3	651	c.295A>G	c.(295-297)AGA>GGA	p.R99G	ANTXR1_uc002sfe.2_Missense_Mutation_p.R99G|ANTXR1_uc002sff.2_Missense_Mutation_p.R99G|ANTXR1_uc002sfd.2_Missense_Mutation_p.R99G	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	99	Extracellular (Potential).|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						GACAGAAGACAGGTAAGGATA	0.428									Familial_Infantile_Hemangioma				G	69271944	A	G	69271944	3	3	166	1	0	0	0	0	1	0	0	0	711	202	7	3	305	3	ANTXR1	2	69271944	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	5988982	69271944	173927429	169	90711											
ADD2	119	broad.mit.edu	37	chr2	70905912	70905912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaggtaggtgttgggcGtattgagccagcgggtcttc	16	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:70905912G>A	uc002sgz.2	-	11	1772	c.1307C>T	c.(1306-1308)ACG>ATG	p.T436M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.T436M|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.T436M|ADD2_uc010fdt.1_Missense_Mutation_p.T436M|ADD2_uc002shc.1_Missense_Mutation_p.T436M|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.T452M	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	436	Interaction with calmodulin (Potential).				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			ovary(2)|pancreas(1)	3						GGTGTTGGGCGTATTGAGCCA	0.647													A	70905912	G	A	70905912	3	1	166	1	0	0	0	0	1	0	0	0	305	1145	40	1	1074	1	ADD2	2	70905912	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1633968	70905912	172293461	170	90712											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					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						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	166	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	285661	71191573	172007800	171	90713											
MCEE	84693	broad.mit.edu	37	chr2	71351665	71351666	+	Frame_Shift_Ins	INS	-	-	A													atgggagcttgaagtctggaINSaaaaagccctgaaaaattga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:71351664_71351665G>GA	uc002shs.2	-	1	94_95	c.49_50C>TC	c.(49-51)tccfs	p.S17fs		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	17					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTGAAGTCTGGAAAAAAGCCCT	0.391													A	71351666	-	A	71351665	7	5	166	1	0	1	1	0	0	0	0	0	9377	246	9	0	489	0	MCEE	2	71351665	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	160092	71351665	171847708	172	90714											
DYSF	8291	broad.mit.edu	37	chr2	71753393	71753393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaaggaggacattgaaaGcaacctgctccggcccacag	11	12	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:71753393G>A	uc002sie.2	+	12	1473	c.1097G>A	c.(1096-1098)AGC>AAC	p.S366N	DYSF_uc010feg.2_Missense_Mutation_p.S397N|DYSF_uc010feh.2_Missense_Mutation_p.S366N|DYSF_uc002sig.3_Missense_Mutation_p.S366N|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.S366N|DYSF_uc010fef.2_Missense_Mutation_p.S397N|DYSF_uc010fei.2_Missense_Mutation_p.S397N|DYSF_uc010fek.2_Missense_Mutation_p.S398N|DYSF_uc010fej.2_Missense_Mutation_p.S367N|DYSF_uc010fel.2_Missense_Mutation_p.S367N|DYSF_uc010feo.2_Missense_Mutation_p.S398N|DYSF_uc010fem.2_Missense_Mutation_p.S367N|DYSF_uc010fen.2_Missense_Mutation_p.S398N|DYSF_uc002sif.2_Missense_Mutation_p.S367N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	366	Cytoplasmic (Potential).|C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GACATTGAAAGCAACCTGCTC	0.577													A	71753393	G	A	71753393	3	1	166	1	0	0	0	0	1	0	0	0	4859	971	34	2	1335	2	DYSF	2	71753393	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	401728	71753393	171445980	173	90715											
SMYD5	10322	broad.mit.edu	37	chr2	73452826	73452826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccgccacaagatccTcaggtgccagctggggacat	11	15	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:73452826T>C	uc002siw.2	+	12	1132	c.1103T>C	c.(1102-1104)CTC>CCC	p.L368P	SMYD5_uc010yre.1_Missense_Mutation_p.L252P|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	368							metal ion binding				0						CACAAGATCCTCAGGTGCCAG	0.602													C	73452826	T	C	73452826	3	2	166	1	0	0	0	0	1	0	0	0	14825	1551	54	3	1149	3	SMYD5	2	73452826	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1699433	73452826	169746547	174	90716											
SMYD5	10322	broad.mit.edu	37	chr2	73453008	73453008	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcagaagaggaagaggaAgaggaggaggaggaggaagg	20	3	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:73453008A>G	uc002siw.2	+	13	1220	c.1191A>G	c.(1189-1191)GAA>GAG	p.E397E	SMYD5_uc010yre.1_Silent_p.E281E|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	397	Glu-rich.						metal ion binding				0						aggaagaggaagaggaggagg	0.463													G	73453008	A	G	73453008	2	3	166	1	0	0	0	0	0	0	0	1	14825	69	3	3		3	SMYD5	2	73453008	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	182	73453008	169746365	175	90717											
ALMS1	7840	broad.mit.edu	37	chr2	73826620	73826620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaacaagcagaatgtAcacatgttaaacaagggcat	8	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:73826620A>G	uc002sje.1	+	19	11754	c.11643A>G	c.(11641-11643)GTA>GTG	p.V3881V	ALMS1_uc002sjf.1_Silent_p.V3837V|ALMS1_uc002sjh.1_Silent_p.V3267V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3879					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGCAGAATGTACACATGTTAA	0.279													G	73826620	A	G	73826620	2	3	166	1	0	0	0	0	0	0	0	1	535	378	14	3		3	ALMS1	2	73826620	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	373612	73826620	169372753	176	90718											
C2orf78	388960	broad.mit.edu	37	chr2	74043233	74043233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgaagctccctaggcaTgcacatgctagagtccgtgc	11	15	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:74043233T>C	uc002sjr.1	+	3	2004	c.1883T>C	c.(1882-1884)ATG>ACG	p.M628T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	628										ovary(2)	2						TCCCTAGGCATGCACATGCTA	0.463													C	74043233	T	C	74043233	3	2	166	1	0	0	0	0	1	0	0	0	2195	1464	51	3	1893	3	C2orf78	2	74043233	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	216613	74043233	169156140	177	90719											
ACTG2	72	broad.mit.edu	37	chr2	74143792	74143792	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catccgtaaggacttatatgCcaacaatgtcctctctgggg	9	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:74143792C>G	uc002sjw.2	+	8	1009	c.887C>G	c.(886-888)GCC>GGC	p.A296G	ACTG2_uc010fey.2_Missense_Mutation_p.A296G|ACTG2_uc010yrn.1_Missense_Mutation_p.A253G	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	296					muscle contraction	cytoskeleton|cytosol	ATP binding				0						GACTTATATGCCAACAATGTC	0.507													G	74143792	C	G	74143792	3	3	166	1	0	0	0	0	1	0	0	0	197	739	26	5	913	5	ACTG2	2	74143792	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	100559	74143792	169055581	178	90720											
AUP1	550	broad.mit.edu	37	chr2	74755569	74755569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccaggggtctctgaactTgcagggtaagaggttgtacc	14	8	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:74755569T>C	uc010yrx.1	-	4	869	c.743A>G	c.(742-744)CAA>CGA	p.Q248R	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.Q191R|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.Q100R|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	257	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						TCTCTGAACTTGCAGGGTAAG	0.527													C	74755569	T	C	74755569	3	2	166	1	0	0	0	0	1	0	0	0	1220	1812	63	3	692	3	AUP1	2	74755569	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	611777	74755569	168443804	179	90721											
CTNNA2	1496	broad.mit.edu	37	chr2	80646660	80646660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgaggctgcaaagagCggaaatgaaaaggaagtgaa	13	5	1	4	rs148134866	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:80646660C>A	uc010ysh.1	+	8	1229	c.1224C>A	c.(1222-1224)AGC>AGA	p.S408R	CTNNA2_uc010yse.1_Missense_Mutation_p.S408R|CTNNA2_uc010ysf.1_Missense_Mutation_p.S408R|CTNNA2_uc010ysg.1_Missense_Mutation_p.S408R|CTNNA2_uc010ysi.1_Missense_Mutation_p.S40R	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	408					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CTGCAAAGAGCGGAAATGAAA	0.443													A	80646660	C	A	80646660	3	1	166	1	0	0	0	0	1	0	0	0	4013	767	27	5	1046	5	CTNNA2	2	80646660	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5891091	80646660	162552713	180	90722											
SFTPB	6439	broad.mit.edu	37	chr2	85892493	85892493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggggaattgctgctcGgagagatcctggggaaagaa	17	5	0	2	rs45530632	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:85892493G>A	uc002sqh.2	-	6	597	c.591C>T	c.(589-591)TCC>TCT	p.S197S	SFTPB_uc002sqi.2_Silent_p.S209S|SFTPB_uc002sqj.2_Silent_p.S197S	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	197					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						ATTGCTGCTCGGAGAGATCCT	0.592													A	85892493	G	A	85892493	2	1	166	1	0	0	0	0	0	0	0	1	14191	1103	39	1		1	SFTPB	2	85892493	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5245833	85892493	157306880	181	90723											
PTCD3	55037	broad.mit.edu	37	chr2	86352130	86352130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctagagcaaaaaacaaCgctgagagaatcttttctct	8	8	3	3	rs75290041		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:86352130C>T	uc002sqw.2	+	10	795	c.729C>T	c.(727-729)AAC>AAT	p.N243N	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_Translation_Start_Site	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	243						mitochondrion	protein binding	p.N243N(1)		ovary(1)	1						CAAAAAACAACGCTGAGAGAA	0.284													T	86352130	C	T	86352130	2	4	166	1	0	0	0	0	0	0	0	1	12729	535	19	1		1	PTCD3	2	86352130	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	459637	86352130	156847243	182	90724											
KDM3A	55818	broad.mit.edu	37	chr2	86677036	86677036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataatttggttttagctgAacgaaagtcacctgaaattt	7	6	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:86677036A>G	uc002sri.3	+	3	620	c.293A>G	c.(292-294)GAA>GGA	p.E98G	KDM3A_uc010ytj.1_Missense_Mutation_p.E98G|KDM3A_uc010ytk.1_Intron	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	98					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			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTTTTAGCTGAACGAAAGTCA	0.393													G	86677036	A	G	86677036	3	3	166	1	0	0	0	0	1	0	0	0	8126	246	9	3	299	3	KDM3A	2	86677036	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	324906	86677036	156522337	183	90725											
FAHD2B	151313	broad.mit.edu	37	chr2	97751910	97751910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctttccaatgaccacgGccagctccacttcccaatct	4	17	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:97751910G>A	uc002sxm.2	-	4	639	c.488C>T	c.(487-489)GCC>GTC	p.A163V		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	163							hydrolase activity|metal ion binding				0						AATGACCACGGCCAGCTCCAC	0.587													A	97751910	G	A	97751910	3	1	166	1	0	0	0	0	1	0	0	0	5374	1203	42	2	476	2	FAHD2B	2	97751910	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	11074874	97751910	145447463	184	90726											
VWA3B	200403	broad.mit.edu	37	chr2	98804519	98804519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgggagcttggtccacGtcaacattaccaaagagaag	12	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:98804519G>A	uc002syo.2	+	10	1657	c.1393G>A	c.(1393-1395)GTC>ATC	p.V465I	VWA3B_uc010yvh.1_Missense_Mutation_p.V315I|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.V465I|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.V122I	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	465										ovary(3)|large_intestine(2)|skin(1)	6						CTTGGTCCACGTCAACATTAC	0.488													A	98804519	G	A	98804519	3	1	166	1	0	0	0	0	1	0	0	0	17238	1145	40	1	1427	1	VWA3B	2	98804519	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1052609	98804519	144394854	185	90727											
LONRF2	164832	broad.mit.edu	37	chr2	100916228	100916228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcaggtgcatcctccacGtcatccggaaactgtctctt	9	13	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:100916228G>A	uc002tal.3	-	5	1858	c.1218C>T	c.(1216-1218)GAC>GAT	p.D406D	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	406					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						CATCCTCCACGTCATCCGGAA	0.458													A	100916228	G	A	100916228	2	1	166	1	0	0	0	0	0	0	0	1	8895	1136	40	1		1	LONRF2	2	100916228	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2111709	100916228	142283145	186	90728											
C2orf29	55571	broad.mit.edu	37	chr2	101885796	101885796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattgaattcagtaggatacGagaagctgctggtcttttcc	10	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:101885796G>A	uc002taw.3	+	7	1536	c.1454G>A	c.(1453-1455)CGA>CAA	p.R485Q		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	485					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGTAGGATACGAGAAGCTGCT	0.393													A	101885796	G	A	101885796	3	1	166	1	0	0	0	0	1	0	0	0	2161	1058	37	1	1480	1	C2orf29	2	101885796	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	969568	101885796	141313577	187	90729											
EN1	2019	broad.mit.edu	37	chr2	119600627	119600627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctttcttgatcttggCgcgcttgttctggaaccaga	12	9	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:119600627C>T	uc002tlm.2	-	2	2082	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	356	Homeobox.				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						TTGATCTTGGCGCGCTTGTTC	0.597													T	119600627	C	T	119600627	3	4	166	1	0	0	0	0	1	0	0	0	5109	768	27	1	116	1	EN1	2	119600627	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	17714831	119600627	123598746	188	90730											
WDR33	55339	broad.mit.edu	37	chr2	128476878	128476878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatcacctagcagaggCgttttctgttgctggaatgg	13	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:128476878C>T	uc002tpg.1	-	16	2904	c.2721G>A	c.(2719-2721)ACG>ACA	p.T907T		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	907					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTAGCAGAGGCGTTTTCTGTT	0.547													T	128476878	C	T	128476878	2	4	166	1	0	0	0	0	0	0	0	1	17284	755	27	1		1	WDR33	2	128476878	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	8876251	128476878	114722495	189	90731											
WDR33	55339	broad.mit.edu	37	chr2	128476952	128476952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttctgctgtccctgagGtccggggggtccttgcatgc	16	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:128476952G>A	uc002tpg.1	-	16	2830	c.2647C>T	c.(2647-2649)CCT>TCT	p.P883S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	883					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGTCCCTGAGGTCCGGGGGGT	0.632													A	128476952	G	A	128476952	3	1	166	1	0	0	0	0	1	0	0	0	17284	1261	44	4	1391	4	WDR33	2	128476952	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	74	128476952	114722421	190	90732											
FAM123C	205147	broad.mit.edu	37	chr2	131521965	131521965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctctgtggaggaccagCccttgcagctcagcacagag	14	13	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:131521965C>T	uc002trw.2	+	2	2510	c.2320C>T	c.(2320-2322)CCC>TCC	p.P774S	FAM123C_uc010fmv.2_Missense_Mutation_p.P774S|FAM123C_uc010fms.1_Missense_Mutation_p.P774S|FAM123C_uc010fmt.1_Missense_Mutation_p.P774S|FAM123C_uc010fmu.1_Missense_Mutation_p.P774S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	774										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGAGGACCAGCCCTTGCAGCT	0.677													T	131521965	C	T	131521965	3	4	166	1	0	0	0	0	1	0	0	0	5424	739	26	2	2322	2	FAM123C	2	131521965	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3045013	131521965	111677408	191	90733											
NCKAP5	344148	broad.mit.edu	37	chr2	133483297	133483297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcactattactgccaccGctggcagagtacgtacacat	8	13	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:133483297G>A	uc002ttp.2	-	19	5990	c.5616C>T	c.(5614-5616)AGC>AGT	p.S1872S	NCKAP5_uc002ttq.2_Silent_p.S553S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1872							protein binding				0						TACTGCCACCGCTGGCAGAGT	0.458													A	133483297	G	A	133483297	2	1	166	1	0	0	0	0	0	0	0	1	10223	1078	38	1		1	NCKAP5	2	133483297	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1961332	133483297	109716076	192	90734											
TMEM163	81615	broad.mit.edu	37	chr2	135215680	135215680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagaccgccgagtcatgCttgaacacttccgcgctcag	9	15	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:135215680C>T	uc002ttx.2	-	7	798	c.732G>A	c.(730-732)AAG>AAA	p.K244K	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	244						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		CCGAGTCATGCTTGAACACTT	0.547													T	135215680	C	T	135215680	2	4	166	1	0	0	0	0	0	0	0	1	16075	796	28	2		2	TMEM163	2	135215680	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1732383	135215680	107983693	193	90735											
R3HDM1	23518	broad.mit.edu	37	chr2	136409442	136409442	+	Frame_Shift_Del	DEL	C	C	-													tggttatatcatgacagcagCccctccaccacatcctcctc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:136409441_136409441GC>G	uc002tuo.3	+	16	2132	c.1762_1762GC>G	c.(1762-1764)gccfs	p.A588fs	R3HDM1_uc010fni.3_Frame_Shift_Del_p.A587fs|R3HDM1_uc002tup.3_Frame_Shift_Del_p.A533fs|R3HDM1_uc010zbh.2_Frame_Shift_Del_p.A336fs	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	588							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)		CATGACAGCAGCCcctccacc	0.597													-	136409442	C	-	136409442	7	5	166	1	0	1	0	1	0	0	0	0	12887	739	26	0	1821	0	R3HDM1	2	136409442	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	1193762	136409442	106789931	194	90736											
LRP1B	53353	broad.mit.edu	37	chr2	141201956	141201956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccattacatcttaagtTtactgggatacatttctggt	7	8	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:141201956T>C	uc002tvj.1	-	65	11209	c.10237A>G	c.(10237-10239)AAC>GAC	p.N3413D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3413	Extracellular (Potential).|LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CATCTTAAGTTTACTGGGATA	0.398										TSP Lung(27;0.18)			C	141201956	T	C	141201956	3	2	166	1	0	0	0	0	1	0	0	0	8955	1841	64	3	3670	3	LRP1B	2	141201956	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	4792514	141201956	101997417	195	90737											
LRP1B	53353	broad.mit.edu	37	chr2	141660492	141660492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaatagttacttaccaaCacttgtacaactttcaccgt	3	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:141660492C>T	uc002tvj.1	-	23	4735	c.3763G>A	c.(3763-3765)GTT>ATT	p.V1255I	LRP1B_uc010fnl.1_Missense_Mutation_p.V437I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1255	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TACTTACCAACACTTGTACAA	0.373										TSP Lung(27;0.18)			T	141660492	C	T	141660492	3	4	166	1	0	0	0	0	1	0	0	0	8955	478	17	4	10312	4	LRP1B	2	141660492	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	458536	141660492	101538881	196	90738											
CACNB4	785	broad.mit.edu	37	chr2	152739824	152739824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtcgaattgcttcccGgtcctcttccaaagagacat	7	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:152739824G>A	uc002tya.2	-	3	276	c.208C>T	c.(208-210)CGG>TGG	p.R70W	CACNB4_uc002txy.2_Missense_Mutation_p.R36W|CACNB4_uc002txz.2_Missense_Mutation_p.R52W|CACNB4_uc010fnz.2_Missense_Mutation_p.R70W|CACNB4_uc002tyb.2_Missense_Mutation_p.R36W	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	70					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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATTGCTTCCCGGTCCTCTTCC	0.483													A	152739824	G	A	152739824	3	1	166	1	0	0	0	0	1	0	0	0	2555	1115	39	1	1402	1	CACNB4	2	152739824	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	11079332	152739824	90459549	197	90739											
TANC1	85461	broad.mit.edu	37	chr2	160025864	160025864	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaatacggccggaggTagggcacaggaagttaaagg	16	7	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:160025864T>C	uc002uag.2	+	9	1324	c.1050T>C	c.(1048-1050)GGT>GGC	p.G350G	TANC1_uc010fol.1_Silent_p.G244G|TANC1_uc010zcm.1_Splice_Site_p.A349_splice|TANC1_uc010fom.1_Silent_p.G156G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	350						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CGGCCGGAGGTAGGGCACAGG	0.438													C	160025864	T	C	160025864	2	2	166	1	0	0	0	0	0	0	0	1	15541	1652	57	3		3	TANC1	2	160025864	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	7286040	160025864	83173509	198	90740											
BAZ2B	29994	broad.mit.edu	37	chr2	160295137	160295138	+	Frame_Shift_Ins	INS	-	-	T													ggtaatggctggtgtattctINStttttcctgggctttttcag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:160295136_160295137C>CT	uc002uao.3	-	7	1375_1376	c.970_971G>AG	c.(970-972)agafs	p.R324fs	BAZ2B_uc002uap.3_Frame_Shift_Ins_p.R322fs|BAZ2B_uc002uas.1_Frame_Shift_Ins_p.R261fs|BAZ2B_uc002uau.1_Frame_Shift_Ins_p.R322fs|BAZ2B_uc002uaq.1_Frame_Shift_Ins_p.R252fs|BAZ2B_uc002uat.4_3'UTR|BAZ2B_uc010fop.1_Frame_Shift_Ins_p.R322fs	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	324					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						CTGGTGTATTCTTTTTTCCTGG	0.416													T	160295138	-	T	160295137	7	5	166	1	0	1	1	0	0	0	0	0	1332	1617	56	0	5656	0	BAZ2B	2	160295137	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	269273	160295137	82904236	199	90741											
TBR1	10716	broad.mit.edu	37	chr2	162280585	162280585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgactcggggatttaCgagcaggccaagcggaggcg	16	11	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:162280585C>T	uc002ubw.1	+	6	2198	c.1896C>T	c.(1894-1896)TAC>TAT	p.Y632Y	TBR1_uc010foy.2_Silent_p.Y345Y	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	632						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CGGGGATTTACGAGCAGGCCA	0.672													T	162280585	C	T	162280585	2	4	166	1	0	0	0	0	0	0	0	1	15644	547	19	1		1	TBR1	2	162280585	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1985448	162280585	80918788	200	90742											
SCN1A	6323	broad.mit.edu	37	chr2	166852550	166852551	+	Frame_Shift_Ins	INS	-	-	T													gaggtataggcttttgcggtINStttttcgatcctaatttttt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:166852549_166852550G>GT	uc002udo.4	-	25	4781_4782	c.4554_4555C>AC	c.(4552-4557)aaaccgfs	p.K1518fs	SCN1A_uc010fpk.3_Frame_Shift_Ins_p.K1490fs|SCN1A_uc021vsb.1_Frame_Shift_Ins_p.K1507fs	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1518						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)	GGCTTTTGCGGTTTTTTCGATC	0.327													T	166852551	-	T	166852550	7	5	166	1	0	1	1	0	0	0	0	0	13914	1722	60	0	1487	0	SCN1A	2	166852550	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	4571965	166852550	76346823	201	90743											
LRP2	4036	broad.mit.edu	37	chr2	170042445	170042445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatgagcttgtaaccaggaCgacaggaacaatagaaactg	10	8	0	2	rs35086590	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:170042445C>A	uc002ues.2	-	50	9626	c.9413G>T	c.(9412-9414)CGT>CTT	p.R3138L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3138	EGF-like 11.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	GTAACCAGGACGACAGGAACA	0.433													A	170042445	C	A	170042445	3	1	166	1	0	0	0	0	1	0	0	0	8956	536	19	5	4674	5	LRP2	2	170042445	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3189895	170042445	73156928	202	90744											
UBR3	130507	broad.mit.edu	37	chr2	170938287	170938287	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatacaaagttcttgagcaAcagtggatttctcatacttt	7	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:170938287A>G	uc010zdi.1	+	39	5601	c.5601A>G	c.(5599-5601)CAA>CAG	p.Q1867Q	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.Q688Q|UBR3_uc002uft.3_Silent_p.Q724Q|UBR3_uc010zdj.1_Silent_p.Q558Q|UBR3_uc002ufu.3_Silent_p.Q373Q	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1867					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TTCTTGAGCAACAGTGGATTT	0.368													G	170938287	A	G	170938287	2	3	166	1	0	0	0	0	0	0	0	1	16900	40	2	3		3	UBR3	2	170938287	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	895842	170938287	72261086	203	90745											
GORASP2	26003	broad.mit.edu	37	chr2	171822463	171822463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccaccagcaacgcaccCtccgaccctgccacaactac	5	23	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:171822463C>T	uc002ugk.2	+	10	1322	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	GORASP2_uc002ugj.2_Silent_p.P326P|GORASP2_uc010zdl.1_Silent_p.P406P|GORASP2_uc010zdm.1_Silent_p.P350P|GORASP2_uc002ugl.2_Silent_p.P326P|GORASP2_uc002ugm.2_Silent_p.P176P	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	394						Golgi membrane				breast(1)|central_nervous_system(1)	2						GCAACGCACCCTCCGACCCTG	0.622													T	171822463	C	T	171822463	2	4	166	1	0	0	0	0	0	0	0	1	6576	668	24	4		4	GORASP2	2	171822463	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	884176	171822463	71376910	204	90746											
CDCA7	83879	broad.mit.edu	37	chr2	174229538	174229538	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagcaatcaaggagaccgCgaaggcgtacattcccgggt	12	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:174229538C>T	uc002uid.1	+	5	609	c.478C>T	c.(478-480)CGA>TGA	p.R160*	CDCA7_uc002uic.1_Nonsense_Mutation_p.R239*|CDCA7_uc010zej.1_Nonsense_Mutation_p.R195*|CDCA7_uc010zek.1_Nonsense_Mutation_p.R118*	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	160	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAGGAGACCGCGAAGGCGTAC	0.493													T	174229538	C	T	174229538	4	4	166	1	0	0	0	0	0	1	0	0	3090	760	27	1	737	1	CDCA7	2	174229538	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2407075	174229538	68969835	205	90747											
HOXD9	3235	broad.mit.edu	37	chr2	176987559	176987559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccctcagcaactactaCgtggactcgcttataggcca	9	14	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:176987559C>T	uc010zex.1	+	1	147	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	21						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCAACTACTACGTGGACTCGC	0.687													T	176987559	C	T	176987559	2	4	166	1	0	0	0	0	0	0	0	1	7326	547	19	1		1	HOXD9	2	176987559	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2758021	176987559	66211814	206	90748											
HOXD8	3234	broad.mit.edu	37	chr2	176995417	176995418	+	Frame_Shift_Ins	INS	-	-	C													gccgctgcctaccaggccgcINScccccctcctcctccgcatc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:176995416_176995417G>GC	uc002uko.3	+	0	949_950	c.322_323G>GC	c.(322-324)gccfs	p.A108fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Ins_p.A108fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	108					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CTACCAGGCCGccccccctcct	0.743													C	176995418	-	C	176995417	7	5	166	1	0	1	1	0	0	0	0	0	7325	739	26	0	325	0	HOXD8	2	176995417	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	7858	176995417	66203956	207	90749											
PDE11A	50940	broad.mit.edu	37	chr2	178740634	178740634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacatcaattcaaaggatTtggtaaatttcaccacctgt	8	8	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:178740634T>C	uc002ulq.2	-	5	1637	c.1319A>G	c.(1318-1320)AAA>AGA	p.K440R	PDE11A_uc002ulp.2_5'UTR|PDE11A_uc002ulr.2_Missense_Mutation_p.K190R|PDE11A_uc002uls.1_Missense_Mutation_p.K82R|PDE11A_uc002ult.1_Missense_Mutation_p.K190R|PDE11A_uc002ulu.1_Missense_Mutation_p.K82R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	440	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCAAAGGATTTGGTAAATTT	0.368									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				C	178740634	T	C	178740634	3	2	166	1	0	0	0	0	1	0	0	0	11631	1841	64	3	1546	3	PDE11A	2	178740634	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1745217	178740634	64458739	208	90750											
TTN	7273	broad.mit.edu	37	chr2	179443547	179443547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaccaaatggatgtctcGcaacaattggctccgatttc	7	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179443547G>A	uc010zfg.1	-	269	60730	c.60506C>T	c.(60505-60507)GCG>GTG	p.A20169V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13864V|TTN_uc010zfi.1_Missense_Mutation_p.A13797V|TTN_uc010zfj.1_Missense_Mutation_p.A13672V|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21096							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATGTCTCGCAACAATTGG	0.398													A	179443547	G	A	179443547	3	1	166	1	0	0	0	0	1	0	0	0	16732	1087	38	1	39941	1	TTN	2	179443547	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	702913	179443547	63755826	209	90751											
TTN	7273	broad.mit.edu	37	chr2	179474231	179474231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgatccagaaatacttGcatcaagtgctatttcatca	7	8	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179474231G>A	uc010zfg.1	-	222	44326	c.44102C>T	c.(44101-44103)GCA>GTA	p.A14701V	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A8396V|TTN_uc010zfi.1_Missense_Mutation_p.A8329V|TTN_uc010zfj.1_Missense_Mutation_p.A8204V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15628							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAATACTTGCATCAAGTGC	0.383													A	179474231	G	A	179474231	3	1	166	1	0	0	0	0	1	0	0	0	16732	1319	46	2	56247	2	TTN	2	179474231	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	30684	179474231	63725142	210	90752											
TTN	7273	broad.mit.edu	37	chr2	179474816	179474816	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatccatgtccaaacttaCgctttggatcttgagcaatg	8	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179474816C>T	uc010zfg.1	-	220	43956	c.43732_splice	c.e220+1	p.Q14578_splice	uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.Q8273_splice|TTN_uc010zfi.1_Splice_Site_p.Q8206_splice|TTN_uc010zfj.1_Splice_Site_p.Q8081_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAACTTACGCTTTGGATC	0.363													T	179474816	C	T	179474816	5	4	166	1	0	0	0	0	0	0	1	0	16732	550	19	1	56624	1	TTN	2	179474816	Splice_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08	585	179474816	63724557	211	90753											
TTN	7273	broad.mit.edu	37	chr2	179576715	179576715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacttctcccacgctgTtttcagctttgcagatatat	6	11	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179576715T>C	uc010zfg.1	-	93	24334	c.24110A>G	c.(24109-24111)AAC>AGC	p.N8037S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4698S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8964							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCACGCTGTTTTCAGCTTT	0.338													C	179576715	T	C	179576715	3	2	166	1	0	0	0	0	1	0	0	0	16732	1725	60	3	76755	3	TTN	2	179576715	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	101899	179576715	63622658	212	90754											
TTN	7273	broad.mit.edu	37	chr2	179580340	179580340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacagccaccgagtcaaCgaatgacattctgaatttac	7	12	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179580340C>T	uc010zfg.1	-	86	22293	c.22069G>A	c.(22069-22071)GTT>ATT	p.V7357I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4018I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8284							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGAGTCAACGAATGACATT	0.463													T	179580340	C	T	179580340	3	4	166	1	0	0	0	0	1	0	0	0	16732	536	19	1	78824	1	TTN	2	179580340	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3625	179580340	63619033	213	90755											
ITGA4	3676	broad.mit.edu	37	chr2	182323028	182323028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatcccggccagacgtgCgaacagctccagctgggtga	13	12	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:182323028C>T	uc002unu.2	+	2	1066	c.303C>T	c.(301-303)TGC>TGT	p.C101C	ITGA4_uc002unt.2_Silent_p.C101C|ITGA4_uc010zfl.1_Silent_p.C101C	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	101	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCCAGACGTGCGAACAGCTCC	0.587													T	182323028	C	T	182323028	2	4	166	1	0	0	0	0	0	0	0	1	7878	776	27	1		1	ITGA4	2	182323028	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2742688	182323028	60876345	214	90756											
MYO1B	4430	broad.mit.edu	37	chr2	192141734	192141734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaacaacctcaagaagcGctttgaccacagtgaaatat	6	11	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:192141734G>A	uc010fsg.2	+	2	368	c.113G>A	c.(112-114)CGC>CAC	p.R38H	MYO1B_uc002usq.2_Missense_Mutation_p.R38H|MYO1B_uc002usr.2_Missense_Mutation_p.R38H|MYO1B_uc002uss.1_Missense_Mutation_p.R38H	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	38	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTCAAGAAGCGCTTTGACCAC	0.413													A	192141734	G	A	192141734	3	1	166	1	0	0	0	0	1	0	0	0	10069	1087	38	1	115	1	MYO1B	2	192141734	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	9818706	192141734	51057639	215	90757											
STK17B	9262	broad.mit.edu	37	chr2	197002360	197002360	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatgatcctgagtttgagaGgaactggaagtttcttcagg	13	5	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:197002360G>T	uc002utk.2	-	8	1254	c.930C>A	c.(928-930)TCC>TCA	p.S310S	STK17B_uc010fsh.2_Silent_p.S310S	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	310	Poly-Ser.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GAGTTTGAGAGGAACTGGAAG	0.418													T	197002360	G	T	197002360	2	4	166	1	0	0	0	0	0	0	0	1	15290	987	35	5		5	STK17B	2	197002360	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4860626	197002360	46197013	216	90758											
SGOL2	151246	broad.mit.edu	37	chr2	201437347	201437347	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatccctggaaacctagaaGacccaagtgagtttgaaaca	8	10	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:201437347G>T	uc002uvw.2	+	7	2391	c.2278G>T	c.(2278-2280)GAC>TAC	p.D760Y	SGOL2_uc010zhd.1_Missense_Mutation_p.D760Y|SGOL2_uc010zhe.1_Missense_Mutation_p.D760Y	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	760					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AAACCTAGAAGACCCAAGTGA	0.363													T	201437347	G	T	201437347	3	4	166	1	0	0	0	0	1	0	0	0	14217	942	33	5	2300	5	SGOL2	2	201437347	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4434987	201437347	41762026	217	90759											
CASP8	841	broad.mit.edu	37	chr2	202149917	202149917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcaaacgagatatatccCggatgaggctgactttctgc	9	11	2	3	rs34208389		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:202149917C>T	uc002uxr.1	+	9	1390	c.1181C>T	c.(1180-1182)CCG>CTG	p.P394L	CASP8_uc002uxp.1_Missense_Mutation_p.P411L|CASP8_uc002uxq.1_Missense_Mutation_p.P379L|CASP8_uc002uxt.1_Missense_Mutation_p.P453L|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.P379L|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.P310L	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	394					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|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						AGATATATCCCGGATGAGGCT	0.473										HNSCC(4;0.00038)			T	202149917	C	T	202149917	3	4	166	1	0	0	0	0	1	0	0	0	2677	652	23	1	1488	1	CASP8	2	202149917	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	712570	202149917	41049456	218	90760											
ERBB4	2066	broad.mit.edu	37	chr2	212248737	212248737	+	Frame_Shift_Del	DEL	T	T	-													ccaatgcttgaaggtctccaTtttttctccgagaaacaaaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:212248736_212248736AT>A	uc002veg.1	-	27	3629	c.3531_3531AT>T	c.(3529-3531)aatfs	p.N1177fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.N1161fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.N1167fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.N1151fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1177					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)		GAAGGTCTCCATTTTTTCTCC	0.403										TSP Lung(8;0.080)			-	212248737	T	-	212248737	7	5	166	1	0	1	0	1	0	0	0	0	5209	1493	52	0	400	0	ERBB4	2	212248737	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	10098820	212248737	30950636	219	90761											
SPAG16	79582	broad.mit.edu	37	chr2	214878701	214878701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcagatgtactttgtatgGacatacagattctgtgaaca	9	6	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:214878701G>A	uc002veq.2	+	13	1519	c.1427G>A	c.(1426-1428)GGA>GAA	p.G476E	SPAG16_uc010fuz.1_Missense_Mutation_p.G327E|SPAG16_uc002ver.2_Missense_Mutation_p.G422E|SPAG16_uc010zjk.1_Missense_Mutation_p.G382E	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	476	WD 4.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		ACTTTGTATGGACATACAGAT	0.338													A	214878701	G	A	214878701	3	1	166	1	0	0	0	0	1	0	0	0	14978	1174	41	4	1493	4	SPAG16	2	214878701	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2629964	214878701	28320672	220	90762											
BARD1	580	broad.mit.edu	37	chr2	215645975	215645976	+	Frame_Shift_Ins	INS	-	-	T													gatttcagctaaagttttctINSttttttgcttttttccagat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:215645974_215645975C>CT	uc002veu.2	-	3	758_759	c.623_624G>AG	c.(622-624)aagfs	p.K208fs	BARD1_uc021vwe.1_Frame_Shift_Ins_p.K189fs|BARD1_uc021vwf.1_Frame_Shift_Ins_p.K111fs|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Frame_Shift_Ins_p.K64fs|BARD1_uc021vwj.1_Frame_Shift_Ins_p.K208fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	208					DNA repair|cell cycle arrest|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	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|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)		CTAAAGTTTTCTTTTTTTGCTT	0.386									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	215645976	-	T	215645975	7	5	166	1	0	1	1	0	0	0	0	0	1312	1609	56	0	1742	0	BARD1	2	215645975	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	767274	215645975	27553398	221	90763											
ABCA12	26154	broad.mit.edu	37	chr2	215839522	215839522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcactggtgttcagacaCatgttgtcaattccagggaa	10	8	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:215839522C>T	uc002vew.2	-	35	5668	c.5448G>A	c.(5446-5448)ATG>ATA	p.M1816I	ABCA12_uc002vev.2_Missense_Mutation_p.M1498I|ABCA12_uc010zjn.1_Missense_Mutation_p.M743I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1816					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TGTTCAGACACATGTTGTCAA	0.333													T	215839522	C	T	215839522	3	4	166	1	0	0	0	0	1	0	0	0	30	478	17	4	2415	4	ABCA12	2	215839522	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	193547	215839522	27359851	222	90764											
MREG	55686	broad.mit.edu	37	chr2	216809613	216809613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggaaacggaaggtagtgCagttctttctggccatctgc	12	9	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:216809613C>T	uc002vfo.2	-	5	914	c.618G>A	c.(616-618)CTG>CTA	p.L206L	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	206						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GAAGGTAGTGCAGTTCTTTCT	0.493													T	216809613	C	T	216809613	2	4	166	1	0	0	0	0	0	0	0	1	9760	697	25	2		2	MREG	2	216809613	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	970091	216809613	26389760	223	90765											
IGFBP5	3488	broad.mit.edu	37	chr2	217559282	217559282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcccctgggcgcagcGctcggtgtagacgccgcacg	16	16	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:217559282G>A	uc002vgj.3	-	1	991	c.217C>T	c.(217-219)CGC>TGC	p.R73C		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	73	IGFBP N-terminal.				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				0		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)		TGGGCGCAGCGCTCGGTGTAG	0.726													A	217559282	G	A	217559282	3	1	166	1	0	0	0	0	1	0	0	0	7582	1087	38	1	617	1	IGFBP5	2	217559282	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	749669	217559282	25640091	224	90766											
TNS1	7145	broad.mit.edu	37	chr2	218683470	218683471	+	Frame_Shift_Ins	INS	-	-	C													tctctcccgacgggaaactcINScccactgaagtgctgcagag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:218683469_218683470T>TC	uc002vgt.2	-	23	3671_3672	c.3273_3274A>GA	c.(3271-3276)gggagtfs	p.G1091fs	TNS1_uc002vgr.2_Frame_Shift_Ins_p.G1078fs|TNS1_uc002vgs.2_Frame_Shift_Ins_p.G1070fs|TNS1_uc010zjv.1_Frame_Shift_Ins_p.G1070fs	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1091	Ser-rich.					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)		GACGGGAAACTCCCCACTGAAG	0.619													C	218683471	-	C	218683470	7	5	166	1	0	1	1	0	0	0	0	0	16340	842	30	0	1974	0	TNS1	2	218683470	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1124188	218683470	24515903	225	90767											
ZNF142	7701	broad.mit.edu	37	chr2	219508052	219508052	+	Frame_Shift_Del	DEL	G	G	-													ggacacatcaggctgggtctGgggggtccctcgttttcctc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:219508051_219508051TG>T	uc002vin.3	-	7	3624	c.3188_3188CA>A	c.(3187-3189)cagfs	p.Q1063fs	ZNF142_uc002vil.3_Frame_Shift_Del_p.Q1024fs|ZNF142_uc010fvt.3_Frame_Shift_Del_p.Q900fs|ZNF142_uc002vim.3_Frame_Shift_Del_p.Q900fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1063					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		AGGCTGGGTCTGGGGGGTCCC	0.602													-	219508052	G	-	219508052	7	5	166	1	0	1	0	1	0	0	0	0	17728	1357	47	0	1888	0	ZNF142	2	219508052	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	824582	219508052	23691321	226	90768											
RNF25	64320	broad.mit.edu	37	chr2	219532655	219532655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgagttcatacagcaTggcagtgcccagcccagcct	9	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:219532655T>C	uc002vit.2	-	5	425	c.337A>G	c.(337-339)ATG>GTG	p.M113V	RNF25_uc010fvw.2_Missense_Mutation_p.M1V	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	113	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATACAGCATGGCAGTGCCC	0.517													C	219532655	T	C	219532655	3	2	166	1	0	0	0	0	1	0	0	0	13485	1464	51	3	1066	3	RNF25	2	219532655	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	24603	219532655	23666718	227	90769											
CDK5R2	8941	broad.mit.edu	37	chr2	219825311	219825311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagctggcgtcggccgccGagctgcaggccgccttcctc	14	17	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:219825311G>A	uc002vjf.2	+	1	914	c.769G>A	c.(769-771)GAG>AAG	p.E257K		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	257					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCGGCCGCCGAGCTGCAGGC	0.642													A	219825311	G	A	219825311	3	1	166	1	0	0	0	0	1	0	0	0	3144	1059	37	1	771	1	CDK5R2	2	219825311	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	292656	219825311	23374062	228	90770											
ABCB6	10058	broad.mit.edu	37	chr2	220081103	220081103	+	Frame_Shift_Del	DEL	C	C	-													tacctgtactgccagtgccaCccccctggaggaacttgagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220081102_220081102AC>A	uc002vkc.2	-	3	2733	c.954_954GT>T	c.(952-954)ggtfs	p.G318fs	ABCB6_uc010fwe.2_Frame_Shift_Del_p.G272fs|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	318	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.G318fs*9(1)		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)		TGCCAGTGCCACCCCCCTGGA	0.567													-	220081103	C	-	220081103	7	5	166	1	0	1	0	1	0	0	0	0	45	507	18	0	1639	0	ABCB6	2	220081103	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	255792	220081103	23118270	229	90771											
PTPRN	5798	broad.mit.edu	37	chr2	220164503	220164503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactcctgcagccaggctcAggggcctggagatgggagaa	15	11	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220164503A>G	uc002vkz.2	-	10	1531	c.1442T>C	c.(1441-1443)CTG>CCG	p.L481P	PTPRN_uc010zlc.1_Missense_Mutation_p.L391P|PTPRN_uc002vla.2_Intron	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	481	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCCAGGCTCAGGGGCCTGGA	0.577													G	220164503	A	G	220164503	3	3	166	1	0	0	0	0	1	0	0	0	12807	188	7	3	1553	3	PTPRN	2	220164503	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	83400	220164503	23034870	230	90772											
CHPF	79586	broad.mit.edu	37	chr2	220404955	220404955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggcaagatctccacgCggctcagcggccggagcagc	14	15	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220404955C>T	uc002vmc.3	-	4	1705	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	CHPF_uc010zlh.1_Missense_Mutation_p.R331H	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	493	Lumenal (Potential).					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				0		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)		GATCTCCACGCGGCTCAGCGG	0.662													T	220404955	C	T	220404955	3	4	166	1	0	0	0	0	1	0	0	0	3368	768	27	1	853	1	CHPF	2	220404955	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	240452	220404955	22794418	231	90773											
SLC4A3	6508	broad.mit.edu	37	chr2	220494985	220494985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgcccaggcagtgcccTgggcaacccaggtggtccag	14	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220494985T>G	uc002vmp.3	+	6	991	c.722T>G	c.(721-723)CTG>CGG	p.L241R	SLC4A3_uc002vmn.2_Missense_Mutation_p.L268R|SLC4A3_uc002vmo.3_Missense_Mutation_p.L268R|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	241	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		GGCAGTGCCCTGGGCAACCCA	0.672													G	220494985	T	G	220494985	3	3	166	1	0	0	0	0	1	0	0	0	14655	1580	55	5	821	5	SLC4A3	2	220494985	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	90030	220494985	22704388	232	90774											
SLC4A3	6508	broad.mit.edu	37	chr2	220501408	220501408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacccccacctagttctgcCgagcccaggacctggagtac	9	17	1	0	rs150010736		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220501408C>T	uc002vmp.3	+	16	2616	c.2347C>T	c.(2347-2349)CGA>TGA	p.R783*	SLC4A3_uc002vmo.3_Nonsense_Mutation_p.R810*|SLC4A3_uc010fwm.2_Nonsense_Mutation_p.R333*|SLC4A3_uc010fwn.1_Nonsense_Mutation_p.R292*	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	783	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		CTAGTTCTGCCGAGCCCAGGA	0.637													T	220501408	C	T	220501408	4	4	166	1	0	0	0	0	0	1	0	0	14655	644	23	1	2486	1	SLC4A3	2	220501408	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	6423	220501408	22697965	233	90775											
EPHA4	2043	broad.mit.edu	37	chr2	222308249	222308249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatcttaatgcaggatgCgtcaatttctttggcaaact	7	8	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:222308249C>T	uc002vmq.2	-	10	1894	c.1852G>A	c.(1852-1854)GCA>ACA	p.A618T	EPHA4_uc002vmr.2_Missense_Mutation_p.A618T|EPHA4_uc010zlm.1_Missense_Mutation_p.A559T|EPHA4_uc010zln.1_Missense_Mutation_p.A618T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	618	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		ATGCAGGATGCGTCAATTTCT	0.403													T	222308249	C	T	222308249	3	4	166	1	0	0	0	0	1	0	0	0	5169	768	27	1	1140	1	EPHA4	2	222308249	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1806841	222308249	20891124	234	90776											
DOCK10	55619	broad.mit.edu	37	chr2	225729690	225729690	+	Frame_Shift_Del	DEL	C	C	-													attttccaaagccacagaagCccccaagagcatctgtctga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:225729689_225729689GC>G	uc010fwz.1	-	11	1612	c.1373_1373GC>C	c.(1372-1374)gctfs	p.A458fs	DOCK10_uc002vob.2_Frame_Shift_Del_p.A452fs|DOCK10_uc002vod.1_Frame_Shift_Del_p.A458fs	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	458							GTP binding	p.G457V(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)		AGCCACAGAAGCCCCCAAGAG	0.463													-	225729690	C	-	225729690	7	5	166	1	0	1	0	1	0	0	0	0	4685	739	26	0	5368	0	DOCK10	2	225729690	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	3421441	225729690	17469683	235	90777											
KIAA1486	57624	broad.mit.edu	37	chr2	226447379	226447379	+	Frame_Shift_Del	DEL	C	C	-													cgctctcctcgtcgcccccaCccccgtctacgctgtaccga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:226447379delC	uc002voe.2	+	4	1421	c.1246delC	c.(1246-1248)CCCfs	p.P416fs	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Frame_Shift_Del_p.P186fs	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	416	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GTCGCCCCCACCCCCGTCTAC	0.677													-	226447379	C	-	226447379	7	5	166	1	0	1	0	1	0	0	0	0	8237	507	18	0	1256	0	KIAA1486	2	226447379	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	717689	226447379	16751994	236	90778											
TRIP12	9320	broad.mit.edu	37	chr2	230652221	230652221	+	Splice_Site	DEL	T	T	-													gattttggggagaaacttacTttttttctatccaatctagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:230652220_230652220CT>C	uc002vpx.1	-	33	5023	c.4914_splice	c.e33+1	p.K1638_splice	TRIP12_uc021vxw.1_Splice_Site_p.K1623_splice|TRIP12_uc002vpy.1_Splice_Site_p.K1320_splice|TRIP12_uc002vpw.1_Splice_Site_p.K1590_splice	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1590					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)		GAGAAACTTACTTTTTTTCTA	0.363													-	230652221	T	-	230652221	8	5	166	1	0	1	0	1	0	0	1	0	16553	1623	56	0	1248	0	TRIP12	2	230652221	Splice_Site	DEL	T	TCGA-CG-4306-01A-01D-1158-08	4204842	230652221	12547152	237	90779											
B3GNT7	93010	broad.mit.edu	37	chr2	232262945	232262945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggccgaggcgccgtgcGcaccctcttcctgctgggca	16	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:232262945G>A	uc002vrs.2	+	2	695	c.515G>A	c.(514-516)CGC>CAC	p.R172H		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	172	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		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)		GGCGCCGTGCGCACCCTCTTC	0.706													A	232262945	G	A	232262945	3	1	166	1	0	0	0	0	1	0	0	0	1262	1087	38	1	521	1	B3GNT7	2	232262945	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1610724	232262945	10936428	238	90780											
TRPM8	79054	broad.mit.edu	37	chr2	234854587	234854587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacacacatttgctgctcGtggacaatggctgtcatgga	10	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:234854587G>A	uc002vvh.2	+	7	827	c.787G>A	c.(787-789)GTG>ATG	p.V263M	TRPM8_uc010fyj.2_Translation_Start_Site	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	263	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		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)	TTTGCTGCTCGTGGACAATGG	0.463													A	234854587	G	A	234854587	3	1	166	1	0	0	0	0	1	0	0	0	16589	1145	40	1	809	1	TRPM8	2	234854587	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2591642	234854587	8344786	239	90781											
COL6A3	1293	broad.mit.edu	37	chr2	238242176	238242176	+	Frame_Shift_Del	DEL	G	G	-													accttgctggctgtggaggtGggggctgagatttctctata							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:238242175_238242175TG>T	uc002vwl.2	-	41	9531	c.9246_9246CA>A	c.(9244-9246)ccafs	p.P3082fs	COL6A3_uc002vwo.2_Frame_Shift_Del_p.P2876fs|COL6A3_uc010znj.1_Frame_Shift_Del_p.P2475fs|COL6A3_uc002vwj.2_Frame_Shift_Del_p.P463fs	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3082	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)		GCTGTGGAGGTGGGGGCTGAG	0.433													-	238242176	G	-	238242176	7	5	166	1	0	1	0	1	0	0	0	0	3701	1348	47	0	300	0	COL6A3	2	238242176	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	3387589	238242176	4957197	240	90782											
RNPEPL1	57140	broad.mit.edu	37	chr2	241517269	241517269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggggacgaggcccccaGcagtgccatctctctcaggg	14	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:241517269G>A	uc002vzi.2	+	11	2038	c.1445G>A	c.(1444-1446)AGC>AAC	p.S482N	RNPEPL1_uc010fzf.2_Missense_Mutation_p.S388N|RNPEPL1_uc002vzj.2_Missense_Mutation_p.S130N	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	482					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GAGGCCCCCAGCAGTGCCATC	0.642													A	241517269	G	A	241517269	3	1	166	1	0	0	0	0	1	0	0	0	13510	971	34	2	1479	2	RNPEPL1	2	241517269	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3275093	241517269	1682104	241	90783											
GPR35	2859	broad.mit.edu	37	chr2	241569626	241569626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgagacacctcagacaCgccgctgtgccagctctccc	9	19	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:241569626C>T	uc002vzs.1	+	1	832	c.257C>T	c.(256-258)ACG>ATG	p.T86M	GPR35_uc010fzh.1_Missense_Mutation_p.T117M|GPR35_uc010fzi.1_Missense_Mutation_p.T117M	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	86	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		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)		ACCTCAGACACGCCGCTGTGC	0.642													T	241569626	C	T	241569626	3	4	166	1	0	0	0	0	1	0	0	0	6690	536	19	1	259	1	GPR35	2	241569626	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	52357	241569626	1629747	242	90784											
CNTN6	27255	broad.mit.edu	37	chr3	1424848	1424848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgtgaccattgtctacTctggggaagatggtaagttg	13	6	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:1424848T>C	uc003boz.2	+	18	2656	c.2389T>C	c.(2389-2391)TCT>CCT	p.S797P	CNTN6_uc011asj.1_Missense_Mutation_p.S725P|CNTN6_uc003bpa.2_Missense_Mutation_p.S797P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	797					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		CATTGTCTACTCTGGGGAAGA	0.418													C	1424848	T	C	1424848	3	2	166	1	0	0	0	0	1	0	0	0	3645	1551	54	3	2455	3	CNTN6	3	1424848	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08		1424848	196597582	243	90785											
CNTN4	152330	broad.mit.edu	37	chr3	3081856	3081856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgttcaggaatgagagcGtgcaccccttctctcccttt	9	13	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:3081856G>A	uc003bpc.2	+	19	2520	c.2299G>A	c.(2299-2301)GTG>ATG	p.V767M	CNTN4_uc003bpb.1_Missense_Mutation_p.V438M|CNTN4_uc003bpe.2_Missense_Mutation_p.V439M|CNTN4_uc003bpf.2_Missense_Mutation_p.V438M|CNTN4_uc003bpg.2_Missense_Mutation_p.V23M	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	767	Fibronectin type-III 2.				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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATGAGAGCGTGCACCCCTT	0.517													A	3081856	G	A	3081856	3	1	166	1	0	0	0	0	1	0	0	0	3643	1145	40	1	2365	1	CNTN4	3	3081856	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1657008	3081856	194940574	244	90786											
IL5RA	3568	broad.mit.edu	37	chr3	3143376	3143376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttggaggcctgctttacCtggtggggcatgaagttcag	14	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:3143376C>A	uc011ask.1	-	6	1011	c.367G>T	c.(367-369)GGG>TGG	p.G123W	IL5RA_uc010hbq.2_Missense_Mutation_p.G123W|IL5RA_uc010hbr.2_Nonsense_Mutation_p.G123*|IL5RA_uc010hbs.2_Missense_Mutation_p.G123W|IL5RA_uc011asl.1_Missense_Mutation_p.G123W|IL5RA_uc011asm.1_Missense_Mutation_p.G123W|IL5RA_uc010hbt.2_Missense_Mutation_p.G123W|IL5RA_uc011asn.1_Missense_Mutation_p.G123W|IL5RA_uc010hbu.2_Missense_Mutation_p.G123W	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	123	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCTGCTTTACCTGGTGGGGCA	0.468													A	3143376	C	A	3143376	3	1	166	1	0	0	0	0	1	0	0	0	7700	695	24	5	953	5	IL5RA	3	3143376	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	61520	3143376	194879054	245	90787											
OXTR	5021	broad.mit.edu	37	chr3	8809756	8809756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccgccacctccacgcGcgccagggcctcgttgcgcc	11	21	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:8809756G>A	uc003brc.2	-	3	740	c.118C>T	c.(118-120)CGC>TGC	p.R40C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	40	Helical; Name=1; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	ACCTCCACGCGCGCCAGGGCC	0.647													A	8809756	G	A	8809756	3	1	166	1	0	0	0	0	1	0	0	0	11338	1087	38	1	1059	1	OXTR	3	8809756	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5666380	8809756	189212674	246	90788											
ATG7	10533	broad.mit.edu	37	chr3	11372885	11372885	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttgaggaattttttggtCctagcagcccacagatggta	10	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:11372885C>T	uc003bwc.2	+	8	867	c.750C>T	c.(748-750)GTC>GTT	p.V250V	ATG7_uc003bwd.2_Silent_p.V250V|ATG7_uc011aum.1_Silent_p.V211V	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	250					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						ATTTTTTGGTCCTAGCAGCCC	0.398													T	11372885	C	T	11372885	2	4	166	1	0	0	0	0	0	0	0	1	1101	842	30	4		4	ATG7	3	11372885	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2563129	11372885	186649545	247	90789											
FBLN2	2199	broad.mit.edu	37	chr3	13679178	13679178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgcgcatatcttccGcattggccccgcgccagcct	11	17	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:13679178G>A	uc011avb.1	+	17	3439	c.3314G>A	c.(3313-3315)CGC>CAC	p.R1105H	FBLN2_uc011auz.1_Missense_Mutation_p.R1131H|FBLN2_uc011ava.1_Missense_Mutation_p.R1152H|FBLN2_uc011avc.1_Missense_Mutation_p.R1152H	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	1105	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATATCTTCCGCATTGGCCCC	0.617													A	13679178	G	A	13679178	3	1	166	1	0	0	0	0	1	0	0	0	5699	1087	38	1	2211	1	FBLN2	3	13679178	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2306293	13679178	184343252	248	90790											
GALNTL2	117248	broad.mit.edu	37	chr3	16252681	16252682	+	Frame_Shift_Ins	INS	-	-	A													atggacagacattacttccaINSaaacactggagcgtatgact							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:16252680_16252681C>CA	uc003car.4	+	4	1604_1605	c.1129_1130C>CA	c.(1129-1131)caafs	p.Q377fs	GALNTL2_uc003caq.4_Frame_Shift_Ins_p.Q110fs	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	377	Catalytic subdomain B.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						ACATTACTTCCAAAACACTGGA	0.554													A	16252682	-	A	16252681	7	5	166	1	0	1	1	0	0	0	0	0	6222	130	5	0	1148	0	GALNTL2	3	16252681	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2573503	16252681	181769749	249	90791											
RFTN1	23180	broad.mit.edu	37	chr3	16358500	16358500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccaccccacacagcagGccaccaggggacagctgttc	9	18	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:16358500G>A	uc003cay.2	-	10	1854	c.1572C>T	c.(1570-1572)GGC>GGT	p.G524G	RFTN1_uc010hes.2_Silent_p.G488G|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	524						plasma membrane				ovary(3)|central_nervous_system(1)	4						CACACAGCAGGCCACCAGGGG	0.617													A	16358500	G	A	16358500	2	1	166	1	0	0	0	0	0	0	0	1	13258	1190	42	2		2	RFTN1	3	16358500	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	105819	16358500	181663930	250	90792											
THRB	7068	broad.mit.edu	37	chr3	24185082	24185082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgagctcccattcctcGtctgtgggctctggcttgtg	12	11	2	2	rs143993214		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:24185082G>A	uc003ccx.3	-	8	997	c.648C>T	c.(646-648)GAC>GAT	p.D216D	THRB_uc010hfe.2_Silent_p.D216D|THRB_uc003ccy.3_Silent_p.D216D|THRB_uc003ccz.3_Silent_p.D211D	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	216					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCATTCCTCGTCTGTGGGCT	0.567													A	24185082	G	A	24185082	2	1	166	1	0	0	0	0	0	0	0	1	15872	1136	40	1		1	THRB	3	24185082	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	7826582	24185082	173837348	251	90793											
NEK10	152110	broad.mit.edu	37	chr3	27326330	27326330	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgaagataaaagcataCctgtataaatattttccata	4	5	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:27326330C>T	uc003cdt.1	-	22	2185	c.1911_splice	c.e22+1	p.Q637_splice	NEK10_uc003cds.1_Splice_Site_p.Q34_splice	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TAAAAGCATACCTGTATAAAT	0.368													T	27326330	C	T	27326330	5	4	166	1	0	0	0	0	0	0	1	0	10322	521	18	4	242	4	NEK10	3	27326330	Splice_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3141248	27326330	170696100	252	90794											
EOMES	8320	broad.mit.edu	37	chr3	27758906	27758906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcgacctccccaccctgcCattgcaggaaaggttgggtc	10	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:27758906C>A	uc003cdx.2	-	6	1716	c.1716G>T	c.(1714-1716)ATG>ATT	p.M572I	EOMES_uc003cdy.3_Missense_Mutation_p.M591I|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.M296I	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	572	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			ovary(3)|breast(1)	4						CCCACCCTGCCATTGCAGGAA	0.517													A	27758906	C	A	27758906	3	1	166	1	0	0	0	0	1	0	0	0	5147	594	21	5	348	5	EOMES	3	27758906	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	432576	27758906	170263524	253	90795											
TRIM71	131405	broad.mit.edu	37	chr3	32859669	32859669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccaactcgtccgcgtcgTcgtcctcctcgcagacgtcc	8	20	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:32859669T>C	uc003cff.2	+	1	160	c.97T>C	c.(97-99)TCG>CCG	p.S33P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	33	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GTCCGCGTCGTCGTCCTCCTC	0.502													C	32859669	T	C	32859669	3	2	166	1	0	0	0	0	1	0	0	0	16541	1667	58	3	99	3	TRIM71	3	32859669	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	5100763	32859669	165162761	254	90796											
TRIM71	131405	broad.mit.edu	37	chr3	32932421	32932422	+	Frame_Shift_Ins	INS	-	-	A													agcacattgagaacagccctINSttcaaggtggtggtcaagtc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:32932420_32932421C>CA	uc003cff.3	+	3	1787_1788	c.1724_1725C>CA	c.(1723-1725)cctfs	p.P575fs		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	575					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGAACAGCCCTTTCAAGGTGG	0.599													A	32932422	-	A	32932421	7	5	166	1	0	1	1	0	0	0	0	0	16541	1596	56	0	1739	0	TRIM71	3	32932421	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	72752	32932421	165090009	255	90797											
CRTAP	10491	broad.mit.edu	37	chr3	33165922	33165922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcatccgagcagtgcGggcatacaacggtgagaact	12	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:33165922G>A	uc003cfl.3	+	3	764	c.644G>A	c.(643-645)CGG>CAG	p.R215Q	CRTAP_uc010hfz.2_Missense_Mutation_p.R215Q|CRTAP_uc003cfm.2_Missense_Mutation_p.R36Q|CRTAP_uc003cfn.2_Missense_Mutation_p.R36Q	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	215						proteinaceous extracellular matrix	binding				0						CGAGCAGTGCGGGCATACAAC	0.537													A	33165922	G	A	33165922	3	1	166	1	0	0	0	0	1	0	0	0	3898	1116	39	1	654	1	CRTAP	3	33165922	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	233501	33165922	164856508	256	90798											
DCLK3	85443	broad.mit.edu	37	chr3	36779824	36779824	+	Frame_Shift_Del	DEL	G	G	-													tcttccagagtggcttccctGgggggcttgctactgggttc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:36779823_36779823TG>T	uc003cgi.2	-	1	819	c.328_328CA>A	c.(328-330)aggfs	p.R110fs		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	110						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGGCTTCCCTGGGGGGCTTG	0.562													-	36779824	G	-	36779824	7	5	166	1	0	1	0	1	0	0	0	0	4293	1335	47	0	1635	0	DCLK3	3	36779824	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	3613902	36779824	161242606	257	90799											
ACVR2B	93	broad.mit.edu	37	chr3	38524744	38524744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcggaggtcggtcaacgGcactacctcggactgtctcg	13	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:38524744G>A	uc003cif.2	+	11	1484	c.1460G>A	c.(1459-1461)GGC>GAC	p.G487D	ACVR2B_uc003cig.2_Missense_Mutation_p.G278D	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	487	Cytoplasmic (Potential).				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)		TCGGTCAACGGCACTACCTCG	0.587													A	38524744	G	A	38524744	3	1	166	1	0	0	0	0	1	0	0	0	224	1203	42	2	1502	2	ACVR2B	3	38524744	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1744920	38524744	159497686	258	90800											
SCN5A	6331	broad.mit.edu	37	chr3	38592438	38592438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaggaccgaatactcaaTaaactgagtggcctctgggt	11	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:38592438T>C	uc003cio.2	-	28	5619	c.5425A>G	c.(5425-5427)ATT>GTT	p.I1809V	SCN5A_uc003cin.2_Missense_Mutation_p.I1808V|SCN5A_uc003cil.3_Missense_Mutation_p.I1809V|SCN5A_uc010hhi.2_Missense_Mutation_p.I1791V|SCN5A_uc010hhk.2_Missense_Mutation_p.I1776V|SCN5A_uc011ayr.1_Missense_Mutation_p.I1755V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1809					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	GAATACTCAATAAACTGAGTG	0.542													C	38592438	T	C	38592438	3	2	166	1	0	0	0	0	1	0	0	0	13922	1406	49	3	629	3	SCN5A	3	38592438	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	67694	38592438	159429992	259	90801											
SCN10A	6336	broad.mit.edu	37	chr3	38739967	38739967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatcagtctgaggatgcGgccaattcgggccaggcgga	16	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:38739967G>A	uc003ciq.2	-	27	4744	c.4744C>T	c.(4744-4746)CGC>TGC	p.R1582C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1582	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	CTGAGGATGCGGCCAATTCGG	0.517													A	38739967	G	A	38739967	3	1	166	1	0	0	0	0	1	0	0	0	13912	1116	39	1	1130	1	SCN10A	3	38739967	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	147529	38739967	159282463	260	90802											
XIRP1	165904	broad.mit.edu	37	chr3	39228640	39228640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagctgcagtctcctggCtctcttgcatcctgttgcct	8	16	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:39228640C>T	uc003cjk.1	-	2	2518	c.2297G>A	c.(2296-2298)AGC>AAC	p.S766N	XIRP1_uc003cji.2_Missense_Mutation_p.S766N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	766							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGTCTCCTGGCTCTCTTGCAT	0.637													T	39228640	C	T	39228640	3	4	166	1	0	0	0	0	1	0	0	0	17426	797	28	2	3238	2	XIRP1	3	39228640	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	488673	39228640	158793790	261	90803											
SEC22C	9117	broad.mit.edu	37	chr3	42605070	42605070	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgcaggtagtgtcataGgaagctgtgaattcccacca	10	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:42605070G>T	uc003clj.2	-	3	409	c.291C>A	c.(289-291)TCC>TCA	p.S97S	SEC22C_uc003clh.2_Silent_p.S97S|SEC22C_uc011azo.1_Silent_p.S27S|SEC22C_uc010hic.2_Silent_p.S97S|SEC22C_uc003cli.2_Silent_p.S97S	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C	97	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TAGTGTCATAGGAAGCTGTGA	0.507													T	42605070	G	T	42605070	2	4	166	1	0	0	0	0	0	0	0	1	13990	987	35	5		5	SEC22C	3	42605070	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3376430	42605070	155417360	262	90804											
ZNF445	353274	broad.mit.edu	37	chr3	44488178	44488178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagtatgaaatctcttgtgGctaatgagttgtgaactctt	10	6	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:44488178G>T	uc003cnf.2	-	8	3333	c.2985C>A	c.(2983-2985)AGC>AGA	p.S995R	ZNF445_uc011azv.1_Missense_Mutation_p.S983R|ZNF445_uc011azw.1_Missense_Mutation_p.S995R	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	995	C2H2-type 13.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATCTCTTGTGGCTAATGAGTT	0.458													T	44488178	G	T	44488178	3	4	166	1	0	0	0	0	1	0	0	0	17915	1194	42	5	114	5	ZNF445	3	44488178	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1883108	44488178	153534252	263	90805											
ZNF35	7584	broad.mit.edu	37	chr3	44700211	44700211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgaaaccaagaaccTacagttactggttccaaaaa	8	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:44700211T>C	uc003cnq.2	+	4	577	c.356T>C	c.(355-357)CTA>CCA	p.L119P	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	119	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACCAAGAACCTACAGTTACTG	0.388													C	44700211	T	C	44700211	3	2	166	1	0	0	0	0	1	0	0	0	17859	1522	53	3	366	3	ZNF35	3	44700211	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	212033	44700211	153322219	264	90806											
CLEC3B	7123	broad.mit.edu	37	chr3	45077254	45077254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggtggacatgaccggCgcccgcatcgcctacaagaa	12	14	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:45077254C>T	uc003cok.3	+	3	543	c.447C>T	c.(445-447)GGC>GGT	p.G149G	CLEC3B_uc003col.2_Silent_p.G107G	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	149	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATGACCGGCGCCCGCATCG	0.667													T	45077254	C	T	45077254	2	4	166	1	0	0	0	0	0	0	0	1	3511	755	27	1		1	CLEC3B	3	45077254	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	377043	45077254	152945176	265	90807											
LTF	4057	broad.mit.edu	37	chr3	46487972	46487972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttaggatcagggtcactgCtttgttgggattctgaaaga	13	5	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:46487972C>A	uc003cpq.2	-	11	1354	c.1316G>T	c.(1315-1317)AGC>ATC	p.S439I	LTF_uc003fzr.2_Missense_Mutation_p.S395I|LTF_uc010hjh.2_Missense_Mutation_p.S437I|LTF_uc003cpr.2_Missense_Mutation_p.S426I	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	439	Transferrin-like 2.				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			central_nervous_system(2)|ovary(1)|lung(1)	4				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)	AGGGTCACTGCTTTGTTGGGA	0.423													A	46487972	C	A	46487972	3	1	166	1	0	0	0	0	1	0	0	0	9079	797	28	5	844	5	LTF	3	46487972	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1410718	46487972	151534458	266	90808											
DHX30	22907	broad.mit.edu	37	chr3	47859553	47859553	+	Frame_Shift_Del	DEL	C	C	-													gtcagtgcaaacttcccccaCcccgccttccacccatgtgt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:47859552_47859552AC>A	uc003cru.3	+	3	495	c.69_69AC>A	c.(67-69)ccafs	p.P23fs	DHX30_uc003crs.2_5'UTR|DHX30_uc003crt.3_5'UTR	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	23						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein 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)		aacttcccccaccccgccttc	0.617													-	47859553	C	-	47859553	7	5	166	1	0	1	0	1	0	0	0	0	4504	507	18	0	76	0	DHX30	3	47859553	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	1371581	47859553	150162877	267	90809											
COL7A1	1294	broad.mit.edu	37	chr3	48611124	48611124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccctggtcactcaccGgggcaccaggtggtccaggg	15	13	2	0	rs140543032		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48611124G>A	uc003ctz.2	-	81	6573	c.6572C>T	c.(6571-6573)CCG>CTG	p.P2191L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2191	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACTCACCGGGGCACCAGG	0.592													A	48611124	G	A	48611124	3	1	166	1	0	0	0	0	1	0	0	0	3704	1130	39	1	2414	1	COL7A1	3	48611124	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	751571	48611124	149411306	268	90810											
COL7A1	1294	broad.mit.edu	37	chr3	48621801	48621801	+	Frame_Shift_Del	DEL	G	G	-													ccagtggtccacgaggtccaGgggggccctgatggaggaga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48621800_48621800AG>A	uc003ctz.2	-	35	4129	c.4128_4128CT>T	c.(4126-4128)cctfs	p.P1376fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1376	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACGAGGTCCAGGGGGGCCCT	0.627													-	48621801	G	-	48621801	7	5	166	1	0	1	0	1	0	0	0	0	3704	1000	35	0	5039	0	COL7A1	3	48621801	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	10677	48621801	149400629	269	90811											
CELSR3	1951	broad.mit.edu	37	chr3	48692475	48692475	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactagggggcaggggcctcActtcttggagcttgtttgca	15	9	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48692475A>G	uc003cul.2	-	6	5269	c.4988_splice	c.e6+1	p.K1663_splice	CELSR3_uc003cuf.1_Splice_Site_p.K1733_splice|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	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			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGGGCCTCACTTCTTGGAG	0.567													G	48692475	A	G	48692475	5	3	166	1	0	0	0	0	0	0	1	0	3223	173	6	3	5068	3	CELSR3	3	48692475	Splice_Site	SNP	A	TCGA-CG-4306-01A-01D-1158-08	70674	48692475	149329955	270	90812											
CELSR3	1951	broad.mit.edu	37	chr3	48699498	48699498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgggagcctgtcccagcGttccgctgggaggacaccgg	16	13	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48699498G>A	uc003cul.2	-	1	851	c.570C>T	c.(568-570)AAC>AAT	p.N190N	CELSR3_uc003cuf.1_Silent_p.N260N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	190	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCCCAGCGTTCCGCTGGG	0.652													A	48699498	G	A	48699498	2	1	166	1	0	0	0	0	0	0	0	1	3223	1136	40	1		1	CELSR3	3	48699498	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	7023	48699498	149322932	271	90813											
LAMB2	3913	broad.mit.edu	37	chr3	49161199	49161199	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacaagctgtgcagtggaGgcggctgaggtgttgcgggc	18	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:49161199G>T	uc003cwe.2	-	24	4058	c.3759C>A	c.(3757-3759)GCC>GCA	p.A1253A	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1253	Domain II.|Potential.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGCAGTGGAGGCGGCTGAGG	0.622													T	49161199	G	T	49161199	2	4	166	1	0	0	0	0	0	0	0	1	8611	987	35	5		5	LAMB2	3	49161199	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	461701	49161199	148861231	272	90814											
RNF123	63891	broad.mit.edu	37	chr3	49742418	49742418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctttcttcactgcagcGccccatgcaggccctggctg	10	18	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:49742418G>A	uc003cxh.2	+	23	2047	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	RNF123_uc010hky.1_Missense_Mutation_p.R316H|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	654						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCACTGCAGCGCCCCATGCAG	0.677													A	49742418	G	A	49742418	3	1	166	1	0	0	0	0	1	0	0	0	13433	1101	38	1	2047	1	RNF123	3	49742418	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	581219	49742418	148280012	273	90815											
MST1R	4486	broad.mit.edu	37	chr3	49940481	49940481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggccttgctcaaccaCagttacacgggtgcccaatg	11	14	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:49940481C>T	uc003cxy.3	-	1	826	c.562G>A	c.(562-564)GTG>ATG	p.V188M	MST1R_uc011bdd.1_Missense_Mutation_p.V188M|MST1R_uc011bde.1_Missense_Mutation_p.V188M|MST1R_uc011bdf.1_Missense_Mutation_p.V188M|MST1R_uc011bdg.1_Missense_Mutation_p.V188M	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	188	Extracellular (Potential).|Sema.				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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCAACCACAGTTACACGG	0.627													T	49940481	C	T	49940481	3	4	166	1	0	0	0	0	1	0	0	0	9891	478	17	4	3720	4	MST1R	3	49940481	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	198063	49940481	148081949	274	90816											
VPRBP	9730	broad.mit.edu	37	chr3	51455629	51455629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctggctccaagtagcAgatgtcagcagcaaggaccc	12	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:51455629A>G	uc003dbe.1	-	16	3627	c.3459T>C	c.(3457-3459)TCT>TCC	p.S1153S	VPRBP_uc003dbf.1_Silent_p.S429S	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	1153	WD 2.|WD repeat-like region.				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCCAAGTAGCAGATGTCAGCA	0.423													G	51455629	A	G	51455629	2	3	166	1	0	0	0	0	0	0	0	1	17182	175	7	3		3	VPRBP	3	51455629	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1515148	51455629	146566801	275	90817											
VPRBP	9730	broad.mit.edu	37	chr3	51457448	51457448	+	Frame_Shift_Del	DEL	T	T	-													ggaagatgtctgtccagctgTttttttatggctgggctttg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:51457447_51457447GT>G	uc003dbe.2	-	13	3003	c.2818_2818AC>C	c.(2818-2820)cagfs	p.Q940fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q939fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q269fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	993					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)		CTGTCCAGCTGTTTTTTTATG	0.502													-	51457448	T	-	51457448	7	5	166	1	0	1	0	1	0	0	0	0	17182	1722	60	0	1591	0	VPRBP	3	51457448	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	1819	51457448	146564982	276	90818											
VPRBP	9730	broad.mit.edu	37	chr3	51464938	51464938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagctgcgctgggccatAttctatcaaaaattccatca	6	10	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:51464938A>G	uc003dbe.1	-	12	1900	c.1732T>C	c.(1732-1734)TAT>CAT	p.Y578H		NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	578					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCTGGGCCATATTCTATCAAA	0.353													G	51464938	A	G	51464938	3	3	166	1	0	0	0	0	1	0	0	0	17182	449	16	3	2843	3	VPRBP	3	51464938	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	7490	51464938	146557492	277	90819											
DNAH1	25981	broad.mit.edu	37	chr3	52423487	52423487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccccagggccagtaccGcacggtgctctacgacagct	10	16	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:52423487G>A	uc011bef.1	+	60	9767	c.9506G>A	c.(9505-9507)CGC>CAC	p.R3169H	DNAH1_uc003ddv.2_Missense_Mutation_p.R27H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3234					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			large_intestine(3)	3				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)		GGCCAGTACCGCACGGTGCTC	0.552													A	52423487	G	A	52423487	3	1	166	1	0	0	0	0	1	0	0	0	4597	1087	38	1	9740	1	DNAH1	3	52423487	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	958549	52423487	145598943	278	90820											
ITIH1	3697	broad.mit.edu	37	chr3	52825871	52825872	+	Frame_Shift_Ins	INS	-	-	G													ctggttcattcacaacaatgINSgggctggactcatcgatggt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:52825870_52825871T>TG	uc003dfs.3	+	21	2709_2710	c.2679_2680T>TG	c.(2677-2682)aatgggfs	p.N893fs	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Frame_Shift_Ins_p.N751fs|ITIH1_uc021wzg.1_Frame_Shift_Ins_p.N605fs|ITIH1_uc021wzh.1_Frame_Shift_Ins_p.N605fs|ITIH1_uc003dft.3_Frame_Shift_Ins_p.W485fs|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	893	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)		TTCACAACAATGGGGCTGGACT	0.584													G	52825872	-	G	52825871	7	5	166	1	0	1	1	0	0	0	0	0	7903	1348	47	0	2766	0	ITIH1	3	52825871	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	402384	52825871	145196559	279	90821											
APPL1	26060	broad.mit.edu	37	chr3	57283464	57283464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttaatgagtcaggccCgtggggatgtagcaggaggc	16	6	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:57283464C>T	uc003dio.2	+	11	1087	c.940C>T	c.(940-942)CGT>TGT	p.R314C	APPL1_uc010hnb.2_Missense_Mutation_p.R314C|APPL1_uc011bey.1_Missense_Mutation_p.R297C	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	314	Required for RAB5A binding.|PH.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GAGTCAGGCCCGTGGGGATGT	0.468													T	57283464	C	T	57283464	3	4	166	1	0	0	0	0	1	0	0	0	817	652	23	1	982	1	APPL1	3	57283464	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4457593	57283464	140738966	280	90822											
PTPRG	5793	broad.mit.edu	37	chr3	62153736	62153736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactttcgaccacagcagcGtctgcatgacagggtggtgt	12	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:62153736G>A	uc003dlb.2	+	8	1651	c.932G>A	c.(931-933)CGT>CAT	p.R311H	PTPRG_uc003dlc.2_Missense_Mutation_p.R311H	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	311	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCACAGCAGCGTCTGCATGAC	0.507													A	62153736	G	A	62153736	3	1	166	1	0	0	0	0	1	0	0	0	12802	1145	40	1	962	1	PTPRG	3	62153736	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4870272	62153736	135868694	281	90823											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133071	64133071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggtctacgtcggctgaCagccggttagaactcacttg	14	10	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:64133071C>T	uc003dmf.2	-	7	1681	c.1095G>A	c.(1093-1095)CTG>CTA	p.L365L		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	365						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		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)		CGTCGGCTGACAGCCGGTTAG	0.612													T	64133071	C	T	64133071	2	4	166	1	0	0	0	0	0	0	0	1	12487	465	17	4		4	PRICKLE2	3	64133071	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1979335	64133071	133889359	282	90824											
MAGI1	9223	broad.mit.edu	37	chr3	65416494	65416494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccacgactgcttttccGcagctttgtgtgaatgaact	9	10	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:65416494G>A	uc003dmn.2	-	11	1952	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W	MAGI1_uc003dmm.2_Missense_Mutation_p.R476W|MAGI1_uc003dmo.2_Missense_Mutation_p.R476W|MAGI1_uc003dmp.2_Missense_Mutation_p.R476W|MAGI1_uc010hny.2_Missense_Mutation_p.R361W	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	476	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		CTGCTTTTCCGCAGCTTTGTG	0.463													A	65416494	G	A	65416494	3	1	166	1	0	0	0	0	1	0	0	0	9190	1086	38	1	3248	1	MAGI1	3	65416494	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1283423	65416494	132605936	283	90825											
KBTBD8	84541	broad.mit.edu	37	chr3	67058751	67058751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctctgggaccttggccGgcattttgaatgtgctgttg	14	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:67058751G>A	uc003dmy.2	+	4	1801	c.1748G>A	c.(1747-1749)CGG>CAG	p.R583Q	KBTBD8_uc011bfv.1_Missense_Mutation_p.R141Q	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	583	Kelch 5.									ovary(2)|large_intestine(1)|breast(1)	4		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)		GACCTTGGCCGGCATTTTGAA	0.443													A	67058751	G	A	67058751	3	1	166	1	0	0	0	0	1	0	0	0	7999	1116	39	1	1762	1	KBTBD8	3	67058751	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1642257	67058751	130963679	284	90826											
ROBO2	6092	broad.mit.edu	37	chr3	77607139	77607139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattctacaaggcccagccAaccaaacgctggcagtggat	9	12	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:77607139A>G	uc003dpy.3	+	9	1919	c.1276A>G	c.(1276-1278)AAC>GAC	p.N426D	ROBO2_uc003dpz.2_Missense_Mutation_p.N430D|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.N430D	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	426	Ig-like C2-type 5.|Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		AGGCCCAGCCAACCAAACGCT	0.418													G	77607139	A	G	77607139	3	3	166	1	0	0	0	0	1	0	0	0	13514	130	5	3	1312	3	ROBO2	3	77607139	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	10548388	77607139	120415291	285	90827											
ARL13B	200894	broad.mit.edu	37	chr3	93755588	93755588	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacgagtgcgaaaattaCgagaagaaaggtaagtagat	12	4	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:93755588C>T	uc003drc.2	+	5	965	c.679C>T	c.(679-681)CGA>TGA	p.R227*	ARL13B_uc010hop.2_Nonsense_Mutation_p.R78*|ARL13B_uc003drd.2_Nonsense_Mutation_p.R120*|ARL13B_uc003dre.2_Nonsense_Mutation_p.R212*|ARL13B_uc003drf.2_Nonsense_Mutation_p.R227*|ARL13B_uc003drg.2_Nonsense_Mutation_p.R124*	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	227	Potential.						GTP binding				0						GCGAAAATTACGAGAAGAAAG	0.358													T	93755588	C	T	93755588	4	4	166	1	0	0	0	0	0	1	0	0	929	528	19	1	697	1	ARL13B	3	93755588	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	16148449	93755588	104266842	286	90828											
EPHA6	285220	broad.mit.edu	37	chr3	97311563	97311563	+	Frame_Shift_Del	DEL	C	C	-													tgccagggggaggatctttgCcccccaggattcctgctggt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:97311562_97311562GC>G	uc010how.1	+	11	2536	c.2493_2493GC>G	c.(2491-2493)ttgfs	p.L831fs	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Frame_Shift_Del_p.L197fs|EPHA6_uc003drs.4_Frame_Shift_Del_p.L223fs|EPHA6_uc003drr.4_Frame_Shift_Del_p.L223fs|EPHA6_uc003drt.3_Frame_Shift_Del_p.L223fs|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	736	Protein kinase.					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						GAGGATCTTTGCCCCCCAGGA	0.532													-	97311563	C	-	97311563	7	5	166	1	0	1	0	1	0	0	0	0	5171	739	26	0	2608	0	EPHA6	3	97311563	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	3555975	97311563	100710867	287	90829											
OR5K2	402135	broad.mit.edu	37	chr3	98217288	98217288	+	Frame_Shift_Del	DEL	T	T	-													ttcattattctatggatctaTttttttcctatacattagac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:98217287_98217287AT>A	uc011bgx.2	+	0	763	c.763_763AT>A	c.(763-765)attfs	p.I255fs		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTATGGATCTATTTTTTTCCT	0.338													-	98217288	T	-	98217288	7	5	166	1	0	1	0	1	0	0	0	0	11167	1493	52	0	766	0	OR5K2	3	98217288	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	905725	98217288	99805142	288	90830											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					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)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	166	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	15840715	114058003	83964427	289	90831											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134094	119134094	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaaacaggccttcttcCctcaacttggaccctgccat	8	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:119134094C>A	uc003ecj.3	+	12	3850	c.3318C>A	c.(3316-3318)TCC>TCA	p.S1106S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1106					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GGCCTTCTTCCCTCAACTTGG	0.547													A	119134094	C	A	119134094	2	1	166	1	0	0	0	0	0	0	0	1	880	610	22	5		5	ARHGAP31	3	119134094	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5076091	119134094	78888336	290	90832											
GTF2E1	2960	broad.mit.edu	37	chr3	120500198	120500198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgtcatggtggctggcCgtccgttctcctacagtgaa	11	12	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:120500198C>T	uc003edz.3	+	5	1315	c.1201C>T	c.(1201-1203)CGT>TGT	p.R401C		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	401					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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		GGTGGCTGGCCGTCCGTTCTC	0.517													T	120500198	C	T	120500198	3	4	166	1	0	0	0	0	1	0	0	0	6856	652	23	1	1215	1	GTF2E1	3	120500198	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1366104	120500198	77522232	291	90833											
GOLGB1	2804	broad.mit.edu	37	chr3	121415620	121415620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgcttgggagttttccGtctatggattcccttacttg	10	9	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:121415620G>A	uc003eei.3	-	13	3861	c.3735C>T	c.(3733-3735)GAC>GAT	p.D1245D	GOLGB1_uc010hrc.2_Silent_p.D1250D|GOLGB1_uc003eej.3_Silent_p.D1211D|GOLGB1_uc011bjm.1_Silent_p.D1131D|GOLGB1_uc010hrd.1_Silent_p.D1209D	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1245	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GGAGTTTTCCGTCTATGGATT	0.438													A	121415620	G	A	121415620	2	1	166	1	0	0	0	0	0	0	0	1	6565	1136	40	1		1	GOLGB1	3	121415620	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	915422	121415620	76606810	292	90834											
GOLGB1	2804	broad.mit.edu	37	chr3	121416977	121416977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggatctgttcagtgagcAggttgtcatgggcagtttgg	15	5	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:121416977A>G	uc003eei.3	-	13	2504	c.2378T>C	c.(2377-2379)CTG>CCG	p.L793P	GOLGB1_uc010hrc.2_Missense_Mutation_p.L798P|GOLGB1_uc003eej.3_Missense_Mutation_p.L759P|GOLGB1_uc011bjm.1_Missense_Mutation_p.L679P|GOLGB1_uc010hrd.1_Missense_Mutation_p.L757P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	793	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTCAGTGAGCAGGTTGTCATG	0.408													G	121416977	A	G	121416977	3	3	166	1	0	0	0	0	1	0	0	0	6565	188	7	3	7441	3	GOLGB1	3	121416977	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1357	121416977	76605453	293	90835											
SEMA5B	54437	broad.mit.edu	37	chr3	122632777	122632777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgctgcaacttcgctggCggacctggaagccgatgcca	14	12	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:122632777C>T	uc003efz.1	-	15	2364	c.2060G>A	c.(2059-2061)CGC>CAC	p.R687H	SEMA5B_uc011bju.1_Missense_Mutation_p.R629H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R687H|SEMA5B_uc010hro.1_Missense_Mutation_p.R629H|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	687	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		ACTTCGCTGGCGGACCTGGAA	0.677													T	122632777	C	T	122632777	3	4	166	1	0	0	0	0	1	0	0	0	14038	768	27	1	1431	1	SEMA5B	3	122632777	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1215800	122632777	75389653	294	90836											
KALRN	8997	broad.mit.edu	37	chr3	123987730	123987730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagttcttcaacagcgcCgtgcacctgctctcgcgcct	11	15	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:123987730C>T	uc003ehg.2	+	5	718	c.591C>T	c.(589-591)GCC>GCT	p.A197A	KALRN_uc010hrv.1_Silent_p.A197A|KALRN_uc003ehf.1_Silent_p.A197A|KALRN_uc011bjy.1_Silent_p.A197A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	197	Spectrin 1.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TCAACAGCGCCGTGCACCTGC	0.607													T	123987730	C	T	123987730	2	4	166	1	0	0	0	0	0	0	0	1	7975	639	23	1		1	KALRN	3	123987730	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1354953	123987730	74034700	295	90837											
SLC12A8	84561	broad.mit.edu	37	chr3	124810944	124810944	+	Splice_Site	DEL	C	C	-													gatcaagatgaagttactcaCccccaacagggagacccagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:124810944delC	uc003ehv.3	-	11	1914	c.1803_splice	c.e11+1	p.G601_splice	SLC12A8_uc003ehw.3_Splice_Site_p.G630_splice|SLC12A8_uc003eht.3_Splice_Site_p.G402_splice|SLC12A8_uc003ehu.3_Splice_Site_p.G354_splice|SLC12A8_uc010hry.2_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8						potassium ion transport	integral to membrane	symporter activity				0						AAGTTACTCACCCCCAACAGG	0.493													-	124810944	C	-	124810944	8	5	166	1	0	1	0	1	0	0	1	0	14389	521	18	0	356	0	SLC12A8	3	124810944	Splice_Site	DEL	C	TCGA-CG-4306-01A-01D-1158-08	823214	124810944	73211486	296	90838											
ALDH1L1	10840	broad.mit.edu	37	chr3	125877315	125877315	+	Frame_Shift_Del	DEL	G	G	-													atagatgatggagccatgccGgggggcactgattatctcca					rs139977408		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:125877314_125877314CG>C	uc003eim.1	-	2	486	c.296_296CG>G	c.(295-297)cggfs	p.R99fs	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Frame_Shift_Del_p.R99fs|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Frame_Shift_Del_p.R125fs|ALDH1L1_uc003eip.1_Frame_Shift_Del_p.R8fs|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	99	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.R99R(1)		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)	GGAGCCATGCCGGGGGGCACT	0.597													-	125877315	G	-	125877315	7	5	166	1	0	1	0	1	0	0	0	0	494	1115	39	0	2497	0	ALDH1L1	3	125877315	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	1066371	125877315	72145115	297	90839											
ATP2C1	27032	broad.mit.edu	37	chr3	130682921	130682921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccattgtgaaaaagctgCctattgttgaaactctgggt	12	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:130682921C>T	uc003enl.2	+	13	1228	c.1006C>T	c.(1006-1008)CCT>TCT	p.P336S	ATP2C1_uc011blg.1_Missense_Mutation_p.P370S|ATP2C1_uc011blh.1_Missense_Mutation_p.P331S|ATP2C1_uc011bli.1_Missense_Mutation_p.P370S|ATP2C1_uc003enk.2_Missense_Mutation_p.P320S|ATP2C1_uc003enm.2_Missense_Mutation_p.P336S|ATP2C1_uc003enn.2_Missense_Mutation_p.P320S|ATP2C1_uc003eno.2_Missense_Mutation_p.P336S|ATP2C1_uc003enp.2_Missense_Mutation_p.P336S|ATP2C1_uc003enq.2_Missense_Mutation_p.P336S|ATP2C1_uc003enr.2_Missense_Mutation_p.P336S|ATP2C1_uc003ens.2_Missense_Mutation_p.P336S|ATP2C1_uc003ent.2_Missense_Mutation_p.P336S|ATP2C1_uc003enu.2_Missense_Mutation_p.P14S	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	336	Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GAAAAAGCTGCCTATTGTTGA	0.408									Hailey-Hailey_disease				T	130682921	C	T	130682921	3	4	166	1	0	0	0	0	1	0	0	0	1143	739	26	2	1052	2	ATP2C1	3	130682921	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4805606	130682921	67339509	298	90840											
NPHP3	27031	broad.mit.edu	37	chr3	132403629	132403629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacgcttcagaaactgGtcagctgttctgtgaacaca	10	9	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:132403629G>A	uc003epe.1	-	24	3416	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	NPHP3_uc003eoz.1_5'UTR|NPHP3_uc003epd.1_Silent_p.D355D	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1113	TPR 7.				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			ovary(1)	1						TCAGAAACTGGTCAGCTGTTC	0.428													A	132403629	G	A	132403629	2	1	166	1	0	0	0	0	0	0	0	1	10580	1252	44	4		4	NPHP3	3	132403629	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1720708	132403629	65618801	299	90841											
TF	7018	broad.mit.edu	37	chr3	133476768	133476768	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgagtatgtcactgccatCcggaatctacgggaaggcac	11	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:133476768C>T	uc003epu.1	+	13	2754	c.1026C>T	c.(1024-1026)ATC>ATT	p.I342I	TF_uc011blt.1_Silent_p.I215I|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.I342I	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	342	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TCACTGCCATCCGGAATCTAC	0.532													T	133476768	C	T	133476768	2	4	166	1	0	0	0	0	0	0	0	1	15782	845	30	4		4	TF	3	133476768	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1073139	133476768	64545662	300	90842											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721723	135721723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactcatcttaaaaaatgCcccaccccaatgcaaaatga	4	13	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:135721723C>T	uc003eqv.1	+	2	1948	c.1383C>T	c.(1381-1383)TGC>TGT	p.C461C	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	461					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TTAAAAAATGCCCCACCCCAA	0.328													T	135721723	C	T	135721723	2	4	166	1	0	0	0	0	0	0	0	1	12388	747	26	2		2	PPP2R3A	3	135721723	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2244955	135721723	62300707	301	90843											
PCCB	5096	broad.mit.edu	37	chr3	136048788	136048788	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttcttccacacgtgccCgaatctgctgtgacctggat	8	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:136048788C>T	uc003eqy.1	+	15	1591	c.1540C>T	c.(1540-1542)CGA>TGA	p.R514*	PCCB_uc003eqz.1_Nonsense_Mutation_p.R514*|PCCB_uc011bmc.1_Nonsense_Mutation_p.R534*	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	514	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	CACACGTGCCCGAATCTGCTG	0.468													T	136048788	C	T	136048788	4	4	166	1	0	0	0	0	0	1	0	0	11505	644	23	1	1662	1	PCCB	3	136048788	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	327065	136048788	61973642	302	90844											
FOXL2	668	broad.mit.edu	37	chr3	138665438	138665438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcttctccggggctgtccCgccgccacccccaccgccct	10	23	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:138665438C>T	uc003esw.2	-	1	545	c.127G>A	c.(127-129)GGG>AGG	p.G43R	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	43	Poly-Gly.				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			ovary(266)|large_intestine(1)|skin(1)	268						GGGGCTGTCCCGCCGCCACCC	0.741			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III						T	138665438	C	T	138665438	3	4	166	1	0	0	0	0	1	0	0	0	6017	652	23	1	1007	1	FOXL2	3	138665438	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2616650	138665438	59356992	303	90845											
COPB2	9276	broad.mit.edu	37	chr3	139077618	139077618	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatcttgagggctgaaagtCttttccctcttccatgacat	8	10	3	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:139077618C>A	uc003etf.3	-	20	2651	c.2521G>T	c.(2521-2523)GAC>TAC	p.D841Y	COPB2_uc011bmv.1_Missense_Mutation_p.D812Y|COPB2_uc010hui.2_Missense_Mutation_p.D812Y	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	841					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			ovary(2)	2						GGCTGAAAGTCTTTTCCCTCT	0.333													A	139077618	C	A	139077618	3	1	166	1	0	0	0	0	1	0	0	0	3729	913	32	5	211	5	COPB2	3	139077618	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	412180	139077618	58944812	304	90846											
COPB2	9276	broad.mit.edu	37	chr3	139093415	139093415	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgtccttccagtgtctGcacacatgttttattctgta	8	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:139093415G>A	uc003etf.3	-	7	797	c.667C>T	c.(667-669)CAG>TAG	p.Q223*	COPB2_uc011bmv.1_Nonsense_Mutation_p.Q194*|COPB2_uc010hui.2_Nonsense_Mutation_p.Q194*|COPB2_uc011bmw.1_Nonsense_Mutation_p.Q223*	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	223	WD 5.				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			ovary(2)	2						TCCAGTGTCTGCACACATGTT	0.378													A	139093415	G	A	139093415	4	1	166	1	0	0	0	0	0	1	0	0	3729	1328	46	2	2117	2	COPB2	3	139093415	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	15797	139093415	58929015	305	90847											
XRN1	54464	broad.mit.edu	37	chr3	142051258	142051258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagggtaatccatatTcatctcttctgttagaggaa	10	7	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:142051258T>C	uc003eus.2	-	36	4245	c.4178A>G	c.(4177-4179)GAA>GGA	p.E1393G	XRN1_uc010huu.2_Missense_Mutation_p.E860G|XRN1_uc003eut.2_Missense_Mutation_p.E1393G|XRN1_uc003euu.2_Missense_Mutation_p.E1394G	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1393					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			ovary(3)	3						TAATCCATATTCATCTCTTCT	0.289													C	142051258	T	C	142051258	3	2	166	1	0	0	0	0	1	0	0	0	17456	1783	62	3	970	3	XRN1	3	142051258	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2957843	142051258	55971172	306	90848											
XRN1	54464	broad.mit.edu	37	chr3	142137373	142137373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtcaacccccatcttcGtcatgtaatatgttctttta	4	12	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:142137373G>A	uc003eus.2	-	12	1386	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	XRN1_uc003eut.2_Missense_Mutation_p.T440M|XRN1_uc003euu.2_Missense_Mutation_p.T440M|XRN1_uc003euv.1_Missense_Mutation_p.T301M|XRN1_uc003euw.2_Missense_Mutation_p.T440M|XRN1_uc011bnh.1_Missense_Mutation_p.T230M	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	440					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			ovary(3)	3						CCCCATCTTCGTCATGTAATA	0.299													A	142137373	G	A	142137373	3	1	166	1	0	0	0	0	1	0	0	0	17456	1145	40	1	3925	1	XRN1	3	142137373	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	86115	142137373	55885057	307	90849											
ATR	545	broad.mit.edu	37	chr3	142272237	142272237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaccaaatctccttttgcGgccctaaaattaaaaacaac	5	11	1	0	rs150512706		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:142272237G>A	uc003eux.3	-	13	2759	c.2637C>T	c.(2635-2637)GCC>GCT	p.A879A		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	879					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			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CTCCTTTTGCGGCCCTAAAAT	0.289								Other_conserved_DNA_damage_response_genes					A	142272237	G	A	142272237	2	1	166	1	0	0	0	0	0	0	0	1	1204	1103	39	1		1	ATR	3	142272237	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	134864	142272237	55750193	308	90850											
SELT	51714	broad.mit.edu	37	chr3	150344892	150344892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaagctcaatgtgcatAtggattcaatcccacaccat	6	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:150344892A>G	uc011bnx.1	+	6	643	c.559A>G	c.(559-561)ATG>GTG	p.M187V		NM_016275	NP_057359	P62341	SELT_HUMAN	selenoprotein T precursor	187					cell redox homeostasis|selenocysteine incorporation		selenium binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAATGTGCATATGGATTCAAT	0.378													G	150344892	A	G	150344892	3	3	166	1	0	0	0	0	1	0	0	0	14022	449	16	3	577	3	SELT	3	150344892	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	8072655	150344892	47677538	309	90851											
VEPH1	79674	broad.mit.edu	37	chr3	157081500	157081500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcatcttcgccgtcaTctgaacccacaccctttgtg	6	14	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:157081500T>C	uc003fbj.1	-	9	1705	c.1388A>G	c.(1387-1389)GAT>GGT	p.D463G	VEPH1_uc003fbk.1_Missense_Mutation_p.D463G|VEPH1_uc010hvu.1_Missense_Mutation_p.D463G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	463						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCGCCGTCATCTGAACCCAC	0.443													C	157081500	T	C	157081500	3	2	166	1	0	0	0	0	1	0	0	0	17151	1435	50	3	1137	3	VEPH1	3	157081500	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	6736608	157081500	40940930	310	90852											
WDR49	151790	broad.mit.edu	37	chr3	167319987	167319987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattacactggctgagtgGccccaaaggacacccactgg	11	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:167319987G>A	uc003fev.1	-	3	486	c.180C>T	c.(178-180)GGC>GGT	p.G60G	WDR49_uc011bpd.1_Silent_p.G113G|WDR49_uc003few.1_Silent_p.G401G	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	60	WD 2.									large_intestine(1)|ovary(1)|skin(1)	3						TGGCTGAGTGGCCCCAAAGGA	0.373													A	167319987	G	A	167319987	2	1	166	1	0	0	0	0	0	0	0	1	17299	1190	42	2		2	WDR49	3	167319987	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	10238487	167319987	30702443	311	90853											
SERPINI1	5274	broad.mit.edu	37	chr3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-													tcaatgggatatgacagcctAaaaaatggtaagagtgatca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:167507158_167507158TA>T	uc003ffa.4	+	1	440	c.242_242TA>T	c.(241-243)ctafs	p.L81fs	SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L81Q(2)|p.S80I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATGACAGCCTAAAAAATGGT	0.388													-	167507159	A	-	167507159	7	5	166	1	0	1	0	1	0	0	0	0	14118	349	13	0	245	0	SERPINI1	3	167507159	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	187172	167507159	30515271	312	90854											
PHC3	80012	broad.mit.edu	37	chr3	169890411	169890411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaagagctgcagtatgCagcatcaagtgctgttgttg	13	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:169890411C>T	uc010hws.1	-	3	298	c.234G>A	c.(232-234)CTG>CTA	p.L78L	PHC3_uc003fgl.2_Silent_p.L90L|PHC3_uc011bpq.1_Silent_p.L90L|PHC3_uc011bpr.1_Silent_p.L90L|PHC3_uc003fgm.2_Silent_p.L90L|PHC3_uc003fgo.1_Silent_p.L74L|PHC3_uc003fgp.3_Silent_p.L86L|PHC3_uc003fgq.3_Silent_p.L90L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	78					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCAGTATGCAGCATCAAGT	0.473													T	169890411	C	T	169890411	2	4	166	1	0	0	0	0	0	0	0	1	11818	697	25	2		2	PHC3	3	169890411	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2383252	169890411	28132019	313	90855											
KCNMB3	27094	broad.mit.edu	37	chr3	178984477	178984477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgaagtgtgatttgcaCggggatgctgaagggctgca	16	8	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:178984477C>T	uc003fjp.1	-	1	362	c.22G>A	c.(22-24)GTG>ATG	p.V8M	KCNMB3_uc011bqc.1_Missense_Mutation_p.V8M	NM_171828	NP_741979	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	Error:Variant_position_missing_in_Q9NPA1_after_alignment					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				0	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)			GTGATTTGCACGGGGATGCTG	0.582													T	178984477	C	T	178984477	3	4	166	1	0	0	0	0	1	0	0	0	8076	536	19	1	1034	1	KCNMB3	3	178984477	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	9094066	178984477	19037953	314	90856											
USP13	8975	broad.mit.edu	37	chr3	179448448	179448448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggccagtattcaaagcCtccggtgaaatctgaactca	8	12	4	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:179448448C>A	uc003fkh.2	+	10	1286	c.1205C>A	c.(1204-1206)CCT>CAT	p.P402H	USP13_uc003fkf.2_Missense_Mutation_p.P402H	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	402					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	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)			TATTCAAAGCCTCCGGTGAAA	0.453													A	179448448	C	A	179448448	3	1	166	1	0	0	0	0	1	0	0	0	17041	681	24	5	1243	5	USP13	3	179448448	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	463971	179448448	18573982	315	90857											
PEX5L	51555	broad.mit.edu	37	chr3	179754369	179754369	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatagaaatgtcttacctGcatgtgtccctggtacattc	7	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:179754369G>A	uc003fki.1	-	1	149	c.19C>T	c.(19-21)CAG>TAG	p.Q7*	PEX5L_uc003fkj.1_Nonsense_Mutation_p.Q7*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.Q7*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.Q7*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.Q7*	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	7					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	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)			TGTCTTACCTGCATGTGTCCC	0.517													A	179754369	G	A	179754369	4	1	166	1	0	0	0	0	0	1	0	0	11749	1328	46	2	1921	2	PEX5L	3	179754369	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	305921	179754369	18268061	316	90858											
MAP6D1	79929	broad.mit.edu	37	chr3	183535841	183535841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggttgtgatgactcgggCtggttttgtctttgtggatc	16	5	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:183535841C>T	uc003fmc.2	-	2	518	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_024871	NP_079147	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	154						cytoskeleton					0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGACTCGGGCTGGTTTTGTC	0.582													T	183535841	C	T	183535841	3	4	166	1	0	0	0	0	1	0	0	0	9265	797	28	2	147	2	MAP6D1	3	183535841	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3781472	183535841	14486589	317	90859											
UTS2D	257313	broad.mit.edu	37	chr3	190999911	190999912	+	Frame_Shift_Ins	INS	-	-	A													tcgtccatgcacagattgtaINSaaaaactcaacacggataac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:190999910_190999911T>TA	uc003fsu.3	-	4	855_856	c.68_69A>TA	c.(67-69)ttafs	p.L23fs		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	Homo sapiens urotensin 2 domain containing (UTS2D), mRNA.	23						extracellular region	hormone activity			lung(5)|skin(1)|stomach(2)	8	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		GCACAGATTGTAAAAAACTCAA	0.361													A	190999912	-	A	190999911	7	5	166	1	0	1	1	0	0	0	0	0	17102	372	13	0	311	0	UTS2D	3	190999911	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	7464070	190999911	7022519	318	90860											
ATP13A5	344905	broad.mit.edu	37	chr3	192997235	192997236	+	Frame_Shift_Ins	INS	-	-	A													gcagctagcagcagaaatgaINSaaatatatctgaggaaatac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:192997234_192997235G>GA	uc011bsq.2	-	27	3235_3236	c.3235_3236C>TC	c.(3235-3237)tcafs	p.S1079fs		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1079					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)		CAGCAGAAATGAAAATATATCT	0.351													A	192997236	-	A	192997235	7	5	166	1	0	1	1	0	0	0	0	0	1127	246	9	0	431	0	ATP13A5	3	192997235	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1997324	192997235	5025195	319	90861											
ATP13A3	79572	broad.mit.edu	37	chr3	194180670	194180670	+	Frame_Shift_Del	DEL	T	T	-													ttccaaagaaagaacgcgaaTttttgcacaaaaccacattt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:194180669_194180669AT>A	uc003fty.4	-	3	659	c.257_257AT>T	c.(256-258)attfs	p.I86fs		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	86					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)		AAGAACGCGAATTTTTGCACA	0.328													-	194180670	T	-	194180670	7	5	166	1	0	1	0	1	0	0	0	0	1125	1493	52	0	3540	0	ATP13A3	3	194180670	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	1183435	194180670	3841760	320	90862											
MUC4	4585	broad.mit.edu	37	chr3	195488396	195488397	+	Frame_Shift_Ins	INS	-	-	G													catctcctcagggctccctgINSggggaatggtggagccattg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:195488395_195488396T>TG	uc021xjp.1	-	14	14729_14730	c.14573_14574A>CA	c.(14572-14574)ccafs	p.P4858fs	MUC4_uc003fuz.3_Frame_Shift_Ins_p.P456fs|MUC4_uc003fva.3_Frame_Shift_Ins_p.P338fs|MUC4_uc003fvb.3_Frame_Shift_Ins_p.P374fs|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Frame_Shift_Ins_p.P374fs|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Frame_Shift_Ins_p.P367fs|MUC4_uc021xjn.1_Frame_Shift_Ins_p.P547fs|MUC4_uc021xjo.1_Frame_Shift_Ins_p.P338fs|MUC4_uc021xjg.1_Frame_Shift_Ins_p.P338fs|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Frame_Shift_Ins_p.P422fs|MUC4_uc021xjj.1_Frame_Shift_Ins_p.P422fs|MUC4_uc021xjk.1_Frame_Shift_Ins_p.P599fs|MUC4_uc021xjl.1_Frame_Shift_Ins_p.P338fs|MUC4_uc003fvo.3_Frame_Shift_Ins_p.P622fs|MUC4_uc003fvp.3_Frame_Shift_Ins_p.P571fs	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1615					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)		CAGGGCTCCCTGGGGGAATGGT	0.599													G	195488397	-	G	195488396	7	5	166	1	0	1	1	0	0	0	0	0	9978	1348	47	0	1709	0	MUC4	3	195488396	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1307726	195488396	2534034	321	90863											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925221	195925221	+	Frame_Shift_Del	DEL	G	G	-													gggacccagaggttggggctGgggggttgagagcagagggg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:195925220_195925220TG>T	uc003fwc.3	-	6	990	c.876_876CA>A	c.(874-876)ccafs	p.P292fs	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	292						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AGGTTGGGGCTGGGGGGTTGA	0.627													-	195925221	G	-	195925221	7	5	166	1	0	1	0	1	0	0	0	0	17606	1348	47	0	58	0	ZDHHC19	3	195925221	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	436825	195925221	2097209	322	90864											
PDE6B	5158	broad.mit.edu	37	chr4	619512	619512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgagccctgagaatgtgGccgcggcctgcgaggacggg	17	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:619512G>A	uc003gap.2	+	1	150	c.97G>A	c.(97-99)GCC>ACC	p.A33T	PDE6B_uc003gao.3_Missense_Mutation_p.A33T	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	33				AAA -> GRG (in Ref. 1; CAA44569, 2; CAA46932 and 3; AAB22690).	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				0						TGAGAATGTGGCCGCGGCCTG	0.488													A	619512	G	A	619512	3	1	166	1	0	0	0	0	1	0	0	0	11646	1203	42	2	99	2	PDE6B	4	619512	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08		619512	190534764	323	90865											
PDE6B	5158	broad.mit.edu	37	chr4	619707	619707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagcctcttcatgtacCgccagcgcaacggcgtggcc	12	16	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:619707C>T	uc003gap.2	+	1	345	c.292C>T	c.(292-294)CGC>TGC	p.R98C	PDE6B_uc003gao.3_Missense_Mutation_p.R98C	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	98	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				0						CTTCATGTACCGCCAGCGCAA	0.662													T	619707	C	T	619707	3	4	166	1	0	0	0	0	1	0	0	0	11646	652	23	1	294	1	PDE6B	4	619707	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	195	619707	190534569	324	90866											
TMEM175	84286	broad.mit.edu	37	chr4	941650	941650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgctcagcttcagtgaCgccctgctgtccatcatcgc	9	16	3	1	rs34645349	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:941650C>T	uc003gbq.2	+	2	221	c.123C>T	c.(121-123)GAC>GAT	p.D41D	TMEM175_uc010ibl.1_Silent_p.D41D|TMEM175_uc003gbp.1_Translation_Start_Site|TMEM175_uc003gbr.2_Translation_Start_Site|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Translation_Start_Site|TMEM175_uc003gbt.2_Translation_Start_Site|TMEM175_uc003gbv.2_Intron	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	41	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCAGTGACGCCCTGCTGT	0.672													T	941650	C	T	941650	2	4	166	1	0	0	0	0	0	0	0	1	16088	535	19	1		1	TMEM175	4	941650	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	321943	941650	190212626	325	90867											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-													ctcacgtgtggtatcatggaCccccccgtcactgatgacat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:2661592_2661592AC>A	uc010ick.3	+	8	1284	c.1283_1283AC>A	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										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						GGTATCATGGACCCCCCCGTC	0.522													-	2661593	C	-	2661593	7	5	166	1	0	1	0	1	0	0	0	0	5524	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	1719943	2661593	188492683	326	90868											
HTT	3064	broad.mit.edu	37	chr4	3208281	3208281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgtaaatcacattcaagAtctgatcagcctttcccacg	5	12	4	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:3208281A>G	uc011bvq.1	+	44	5928	c.5783A>G	c.(5782-5784)GAT>GGT	p.D1928G		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1926					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACATTCAAGATCTGATCAGC	0.463													G	3208281	A	G	3208281	3	3	166	1	0	0	0	0	1	0	0	0	7457	333	12	3	5947	3	HTT	4	3208281	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	546688	3208281	187945995	327	90869											
EVC	2121	broad.mit.edu	37	chr4	5803721	5803721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcgtctacgtgaccagCgctggtgtcagccgcctggt	15	12	2	2	rs138114051		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:5803721C>T	uc003gil.1	+	16	2533	c.2349C>T	c.(2347-2349)AGC>AGT	p.S783S	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	783					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				ACGTGACCAGCGCTGGTGTCA	0.592													T	5803721	C	T	5803721	2	4	166	1	0	0	0	0	0	0	0	1	5285	767	27	1		1	EVC	4	5803721	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2595440	5803721	185350555	328	90870											
WFS1	7466	broad.mit.edu	37	chr4	6296857	6296857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcctgttcctgcaggacGacgaagatgatgacgagctg	14	10	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:6296857G>A	uc003giy.2	+	7	968	c.802G>A	c.(802-804)GAC>AAC	p.D268N	WFS1_uc003gix.2_Missense_Mutation_p.D268N|WFS1_uc003giz.2_Missense_Mutation_p.D86N	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	268					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)	2				Colorectal(103;0.0512)		CCTGCAGGACGACGAAGATGA	0.597													A	6296857	G	A	6296857	3	1	166	1	0	0	0	0	1	0	0	0	17357	1058	37	1	824	1	WFS1	4	6296857	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	493136	6296857	184857419	329	90871											
TBC1D14	57533	broad.mit.edu	37	chr4	6925426	6925426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcgggccttccagagcGcctgcgcgctgccatcctgt	13	17	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:6925426G>A	uc011bwg.1	+	2	389	c.310G>A	c.(310-312)GCC>ACC	p.A104T	TBC1D14_uc003gjs.3_Missense_Mutation_p.A104T	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	104						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						CTTCCAGAGCGCCTGCGCGCT	0.662													A	6925426	G	A	6925426	3	1	166	1	0	0	0	0	1	0	0	0	15600	1087	38	1	312	1	TBC1D14	4	6925426	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	628569	6925426	184228850	330	90872											
CCDC96	257236	broad.mit.edu	37	chr4	7043869	7043869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccggtcagccacctcaGcggcctccaggcccttcttt	9	20	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:7043869G>A	uc003gjv.2	-	1	860	c.797C>T	c.(796-798)GCT>GTT	p.A266V	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	266											0						AGCCACCTCAGCGGCCTCCAG	0.647													A	7043869	G	A	7043869	3	1	166	1	0	0	0	0	1	0	0	0	2874	971	34	2	874	2	CCDC96	4	7043869	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	118443	7043869	184110407	331	90873											
AFAP1	60312	broad.mit.edu	37	chr4	7802370	7802370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggctgttggagagcacGttcagatagcctgcggagac	15	10	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:7802370G>A	uc003gkg.1	-	10	1338	c.1065C>T	c.(1063-1065)AAC>AAT	p.N355N	AFAP1_uc011bwk.1_Silent_p.N355N	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	355	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TGGAGAGCACGTTCAGATAGC	0.577													A	7802370	G	A	7802370	2	1	166	1	0	0	0	0	0	0	0	1	353	1136	40	1		1	AFAP1	4	7802370	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	758501	7802370	183351906	332	90874											
ABLIM2	84448	broad.mit.edu	37	chr4	8089996	8089996	+	Frame_Shift_Del	DEL	G	G	-													ttgaaggtcactcggtccccGggggggaagggcagcctgaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:8089995_8089995CG>C	uc003gko.3	-	3	498	c.355_355CG>G	c.(355-357)gggfs	p.G119fs	ABLIM2_uc003gkm.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkp.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkq.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkr.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkj.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gks.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc011bwl.1_Frame_Shift_Del_p.G124fs	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	119	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACTCGGTCCCCGGGGGGGAAG	0.652													-	8089996	G	-	8089996	7	5	166	1	0	1	0	1	0	0	0	0	95	1103	39	0	1709	0	ABLIM2	4	8089996	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	287626	8089996	183064280	333	90875											
BOD1L	259282	broad.mit.edu	37	chr4	13605718	13605718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggttttggagtggttgCctgttttgtggcaccttctt	13	7	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:13605718C>T	uc003gmz.1	-	10	2923	c.2806G>A	c.(2806-2808)GCA>ACA	p.A936T	BOD1L_uc010idr.1_Missense_Mutation_p.A273T	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	936	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						GGAGTGGTTGCCTGTTTTGTG	0.373													T	13605718	C	T	13605718	3	4	166	1	0	0	0	0	1	0	0	0	1483	739	26	2	6417	2	BOD1L	4	13605718	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5515722	13605718	177548558	334	90876											
DHX15	1665	broad.mit.edu	37	chr4	24542564	24542564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcaaaatctcaggatagGtgttatcctagcaaagaaca	8	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:24542564G>A	uc003gqx.2	-	9	1661	c.1493C>T	c.(1492-1494)ACC>ATC	p.T498I	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	498	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				CTCAGGATAGGTGTTATCCTA	0.353													A	24542564	G	A	24542564	3	1	166	1	0	0	0	0	1	0	0	0	4501	1261	44	4	918	4	DHX15	4	24542564	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	10936846	24542564	166611712	335	90877											
ZCCHC4	29063	broad.mit.edu	37	chr4	25335563	25335563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaagttgacagcatcaggTgacaagaagtctaacattaa	8	7	3	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:25335563T>C	uc003grl.3	+	5	675	c.639T>C	c.(637-639)GGT>GGC	p.G213G	ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_5'UTR	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	213							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				CAGCATCAGGTGACAAGAAGT	0.308													C	25335563	T	C	25335563	2	2	166	1	0	0	0	0	0	0	0	1	17587	1683	59	3		3	ZCCHC4	4	25335563	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	792999	25335563	165818713	336	90878											
TLR1	7096	broad.mit.edu	37	chr4	38800054	38800055	+	Frame_Shift_Del	DEL	TT	TT	-													tgagacatattgccaaactcTttgcatataggcagggcatc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:38800053_38800054CTT>C	uc003gtl.3	-	3	673_674	c.399_400AAG>G	c.(397-402)aaagagfs	p.K133fs	TLR1_uc021xnn.1_Frame_Shift_Del_p.K133fs	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	133					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	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	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						TTGCCAAACTCTTTGCATATAG	0.421													-	38800055	TT	-	38800054	7	5	166	1	0	1	0	1	0	0	0	0	15946	1606	56	0	1965	0	TLR1	4	38800054	Frame_Shift_Del	DEL	TT	TCGA-CG-4306-01A-01D-1158-08	13464491	38800054	152354222	337	90879											
KLHL5	51088	broad.mit.edu	37	chr4	39077615	39077615	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtagtcagacattatcatcCtgtcatactatggagccatg	8	9	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:39077615C>A	uc003gts.2	+	2	627	c.552C>A	c.(550-552)TCC>TCA	p.S184S	KLHL5_uc003gtp.2_Silent_p.S138S|KLHL5_uc003gtq.2_Translation_Start_Site|KLHL5_uc003gtr.1_Silent_p.S184S|KLHL5_uc003gtt.2_Intron	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	184						cytoplasm|cytoskeleton	actin binding			ovary(1)	1						CATTATCATCCTGTCATACTA	0.313													A	39077615	C	A	39077615	2	1	166	1	0	0	0	0	0	0	0	1	8392	668	24	5		5	KLHL5	4	39077615	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	277561	39077615	152076661	338	90880											
ATP10D	57205	broad.mit.edu	37	chr4	47538491	47538491	+	Frame_Shift_Del	DEL	T	T	-													agcaggtatgaaaagatgcaTtttttcaatgttcccgagcc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:47538490_47538490AT>A	uc003gxk.1	+	7	1216	c.1052_1052AT>A	c.(1051-1053)catfs	p.H351fs	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Frame_Shift_Del_p.H351fs	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	351					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						GAAAAGATGCATTTTTTCAAT	0.343													-	47538491	T	-	47538491	7	5	166	1	0	1	0	1	0	0	0	0	1118	1490	52	0	1079	0	ATP10D	4	47538491	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	8460876	47538491	143615785	339	90881											
LPHN3	23284	broad.mit.edu	37	chr4	62800606	62800606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagccacaagctttgaatGcatggagagacctgactacg	10	10	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:62800606G>A	uc010ihh.2	+	11	2130	c.1957G>A	c.(1957-1959)GCA>ACA	p.A653T	LPHN3_uc003hcq.3_Missense_Mutation_p.A653T|LPHN3_uc003hct.2_Missense_Mutation_p.A46T|LPHN3_uc003hcs.1_Missense_Mutation_p.A469T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	640	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AGCTTTGAATGCATGGAGAGA	0.478													A	62800606	G	A	62800606	3	1	166	1	0	0	0	0	1	0	0	0	8917	1319	46	2	1999	2	LPHN3	4	62800606	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	15262115	62800606	128353670	340	90882											
EPHA5	2044	broad.mit.edu	37	chr4	66233137	66233137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgctttgctgtagccaCaccgcctggaacaaagtaag	10	10	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:66233137C>T	uc003hcy.2	-	10	2055	c.1862G>A	c.(1861-1863)TGT>TAT	p.C621Y	EPHA5_uc003hcx.2_Missense_Mutation_p.C553Y|EPHA5_uc003hcz.2_Missense_Mutation_p.C599Y|EPHA5_uc011cah.1_Missense_Mutation_p.C622Y|EPHA5_uc011cai.1_Missense_Mutation_p.C600Y|EPHA5_uc003hda.2_Missense_Mutation_p.C622Y	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	621	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GCTGTAGCCACACCGCCTGGA	0.373										TSP Lung(17;0.13)			T	66233137	C	T	66233137	3	4	166	1	0	0	0	0	1	0	0	0	5170	478	17	4	1287	4	EPHA5	4	66233137	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3432531	66233137	124921139	341	90883											
EPHA5	2044	broad.mit.edu	37	chr4	66467646	66467646	+	Frame_Shift_Del	DEL	T	T	-													gaaaagcaagataaaatcccTttttgcttagaggtcctaca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:66467645_66467645CT>C	uc003hcy.3	-	2	817	c.624_624AG>G	c.(622-624)aagfs	p.K208fs	EPHA5_uc003hcx.3_Frame_Shift_Del_p.K139fs|EPHA5_uc003hcz.3_Frame_Shift_Del_p.K208fs|EPHA5_uc011cah.2_Frame_Shift_Del_p.K208fs|EPHA5_uc011cai.2_Frame_Shift_Del_p.K208fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.K208fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	208					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.K208_G209>N*(2)		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						GATAAAATCCCTTTTTGCTTA	0.418										TSP Lung(17;0.13)			-	66467646	T	-	66467646	7	5	166	1	0	1	0	1	0	0	0	0	5170	1609	56	0	2554	0	EPHA5	4	66467646	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	234509	66467646	124686630	342	90884											
RUFY3	22902	broad.mit.edu	37	chr4	71654646	71654646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatctcttcggcagcagctgGatgacctcagagctctcaag	10	12	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:71654646G>T	uc003hfq.2	+	11	1790	c.1195G>T	c.(1195-1197)GAT>TAT	p.D399Y	RUFY3_uc003hfp.3_Missense_Mutation_p.D459Y|RUFY3_uc011cax.1_Missense_Mutation_p.D417Y|RUFY3_uc003hfr.2_Missense_Mutation_p.D399Y|RUFY3_uc011cay.1_Missense_Mutation_p.D335Y	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	399	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GCAGCAGCTGGATGACCTCAG	0.507													T	71654646	G	T	71654646	3	4	166	1	0	0	0	0	1	0	0	0	13740	1174	41	5	1599	5	RUFY3	4	71654646	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5187000	71654646	119499630	343	90885											
ADAMTS3	9508	broad.mit.edu	37	chr4	73149282	73149282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagtttcagcagcttcTagaaggtatggtggtggcag	14	6	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:73149282T>C	uc003hgk.1	-	22	3226	c.3189A>G	c.(3187-3189)CTA>CTG	p.L1063L		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1063					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			CAGCAGCTTCTAGAAGGTATG	0.473													C	73149282	T	C	73149282	2	2	166	1	0	0	0	0	0	0	0	1	267	1509	53	3		3	ADAMTS3	4	73149282	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1494636	73149282	118004994	344	90886											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205406	73205406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaaggccttccaggtcCgactctaataagagacaaaa	7	11	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:73205406C>T	uc003hgk.1	-	5	703	c.666G>A	c.(664-666)TCG>TCA	p.S222S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	222					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			CTTCCAGGTCCGACTCTAATA	0.453													T	73205406	C	T	73205406	2	4	166	1	0	0	0	0	0	0	0	1	267	639	23	1		1	ADAMTS3	4	73205406	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	56124	73205406	117948870	345	90887											
SPARCL1	8404	broad.mit.edu	37	chr4	88420707	88420707	+	Frame_Shift_Del	DEL	A	A	-													cagttcccaagagacataggAaaaaaagcccagtcttcatg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:88420706_88420706GA>G	uc010ikm.3	-	2	593	c.21_21TC>C	c.(19-21)ttcfs	p.F7fs	SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Frame_Shift_Del_p.F7fs|SPARCL1_uc011cdd.2_5'UTR	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	7					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.F7fs*29(1)		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)		AGAGACATAGGAAAAAAAGCC	0.383													-	88420707	A	-	88420707	7	5	166	1	0	1	0	1	0	0	0	0	14995	246	9	0	2014	0	SPARCL1	4	88420707	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	15215301	88420707	102733569	346	90888											
ABCG2	9429	broad.mit.edu	37	chr4	89028360	89028360	+	Frame_Shift_Del	DEL	T	T	-													tctggattccagtagaatcaTtttttagcccaaagtaaatg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:89028359_89028359AT>A	uc003hrg.3	-	9	1747	c.1254_1254AT>T	c.(1252-1254)aatfs	p.N418fs	ABCG2_uc003hrh.3_Frame_Shift_Del_p.N418fs|ABCG2_uc003hrf.3_Frame_Shift_Del_p.N286fs	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	418	ABC transmembrane type-2.	Not glycosylated.			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)	CAGTAGAATCATTTTTTAGCC	0.333													-	89028360	T	-	89028360	7	5	166	1	0	1	0	1	0	0	0	0	69	1493	52	0	742	0	ABCG2	4	89028360	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	607653	89028360	102125916	347	90889											
HERC6	55008	broad.mit.edu	37	chr4	89326038	89326038	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccctgaaggatactagttCcacacgtgctcccgggaaaa	9	12	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:89326038C>G	uc011cdi.1	+	9	1286	c.1103C>G	c.(1102-1104)TCC>TGC	p.S368C	HERC6_uc011cdj.1_Missense_Mutation_p.S368C|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	368					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GATACTAGTTCCACACGTGCT	0.428													G	89326038	C	G	89326038	3	3	166	1	0	0	0	0	1	0	0	0	7062	855	30	5	934	5	HERC6	4	89326038	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	297678	89326038	101828238	348	90890											
GRID2	2895	broad.mit.edu	37	chr4	94032033	94032033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagaatagaagaactgaatCgctatcgagacactcttagg	10	7	1	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:94032033C>T	uc011cdt.1	+	4	922	c.664C>T	c.(664-666)CGC>TGC	p.R222C	GRID2_uc010ikx.2_Missense_Mutation_p.R222C|GRID2_uc011cdu.1_Missense_Mutation_p.R127C|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	222	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	AGAACTGAATCGCTATCGAGA	0.418													T	94032033	C	T	94032033	3	4	166	1	0	0	0	0	1	0	0	0	6772	884	31	1	678	1	GRID2	4	94032033	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4705995	94032033	97122243	349	90891											
TET2	54790	broad.mit.edu	37	chr4	106155661	106155661	+	Frame_Shift_Del	DEL	A	A	-													ttctgaatgagcaggaggggAaaagtgctaattaccatgac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:106155660_106155660GA>G	uc011cez.2	+	2	1029	c.624_624GA>G	c.(622-624)gggfs	p.G208fs	TET2_uc003hxk.3_Frame_Shift_Del_p.G187fs|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Frame_Shift_Del_p.G187fs|TET2_uc010ilp.2_Frame_Shift_Del_p.G187fs|TET2_uc021xql.1_Frame_Shift_Del_p.G187fs	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	187					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)		AGCAGGAGGGGAAAAGTGCTA	0.413			"Mis N, F"		MDS								-	106155661	A	-	106155661	7	5	166	1	0	1	0	1	0	0	0	0	15767	247	9	0	564	0	TET2	4	106155661	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	12123628	106155661	84998615	350	90892											
KIAA1109	84162	broad.mit.edu	37	chr4	123184039	123184039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaggagagcctactcAgctacctgactggaagcttc	11	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:123184039A>G	uc003ieh.2	+	41	6928	c.6883A>G	c.(6883-6885)AGC>GGC	p.S2295G	KIAA1109_uc003iel.1_Missense_Mutation_p.S230G|KIAA1109_uc003iek.2_Missense_Mutation_p.S914G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2295					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GAGCCTACTCAGCTACCTGAC	0.532													G	123184039	A	G	123184039	3	3	166	1	0	0	0	0	1	0	0	0	8208	188	7	3	7045	3	KIAA1109	4	123184039	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	17028378	123184039	67970237	351	90893											
PHF17	79960	broad.mit.edu	37	chr4	129776926	129776926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaccaagtgggtccacGttagctgtgctctgtggatc	14	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:129776926G>A	uc003igk.2	+	7	1118	c.838G>A	c.(838-840)GTT>ATT	p.V280I	PHF17_uc003igj.2_Missense_Mutation_p.V280I|PHF17_uc003igl.2_Missense_Mutation_p.V268I|PHF17_uc011cgy.1_Missense_Mutation_p.V280I|PHF17_uc003igm.2_Missense_Mutation_p.V280I	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	280					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						GTGGGTCCACGTTAGCTGTGC	0.403													A	129776926	G	A	129776926	3	1	166	1	0	0	0	0	1	0	0	0	11828	1145	40	1	860	1	PHF17	4	129776926	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6592887	129776926	61377350	352	90894											
SCLT1	132320	broad.mit.edu	37	chr4	129869675	129869676	+	Frame_Shift_Ins	INS	-	-	T													ctagttcttcttccactgctINStttttttccttaatgactcg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:129869674_129869675C>CT	uc003igp.2	-	14	1775_1776	c.1269_1270G>AG	c.(1267-1272)aaagcafs	p.K423fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.K87fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.K33fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	423						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTTCCACTGCTTTTTTTTCCT	0.332													T	129869676	-	T	129869675	7	5	166	1	0	1	1	0	0	0	0	0	13906	1606	56	0	825	0	SCLT1	4	129869675	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	92749	129869675	61284601	353	90895											
PCDH18	54510	broad.mit.edu	37	chr4	138442446	138442446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctaccccctgtgggtAacccacagttttggctggca	11	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:138442446A>G	uc003ihe.3	-	4	3532	c.3145T>C	c.(3145-3147)TAC>CAC	p.Y1049H	PCDH18_uc003ihf.3_Missense_Mutation_p.Y1041H|PCDH18_uc011cgz.1_Missense_Mutation_p.Y260H|PCDH18_uc003ihg.3_Missense_Mutation_p.Y828H|PCDH18_uc011cha.1_Missense_Mutation_p.Y229H	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1049	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCCTGTGGGTAACCCACAGTT	0.582													G	138442446	A	G	138442446	3	3	166	1	0	0	0	0	1	0	0	0	11513	362	13	3	266	3	PCDH18	4	138442446	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	8572771	138442446	52711830	354	90896											
MAML3	55534	broad.mit.edu	37	chr4	140641171	140641171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccactcaccattccaaccCcctgcccagaggcaggttgc	8	18	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:140641171C>A	uc003ihz.1	-	7	3460	c.2708G>T	c.(2707-2709)GGG>GTG	p.G903V	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.G371V	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	904	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					CATTCCAACCCCCTGCCCAGA	0.557													A	140641171	C	A	140641171	3	1	166	1	0	0	0	0	1	0	0	0	9207	623	22	5	697	5	MAML3	4	140641171	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2198725	140641171	50513105	355	90897											
MMAA	166785	broad.mit.edu	37	chr4	146576477	146576477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcatttcaggacccaccCcacagtccgggaacagattc	9	14	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:146576477C>A	uc003ikh.3	+	7	1233	c.1148C>A	c.(1147-1149)CCC>CAC	p.P383H	MMAA_uc010iow.2_RNA	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	383						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGACCCACCCCACAGTCCGG	0.493													A	146576477	C	A	146576477	3	1	166	1	0	0	0	0	1	0	0	0	9639	623	22	5	1170	5	MMAA	4	146576477	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5935306	146576477	44577799	356	90898											
NR3C2	4306	broad.mit.edu	37	chr4	149357534	149357534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacataaatgatctcaagGgcgtgttcacacaacttaga	8	9	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:149357534G>A	uc003ilj.3	-	2	813	c.479C>T	c.(478-480)CCC>CTC	p.P160L	NR3C2_uc003ilk.3_Missense_Mutation_p.P160L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	160	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGATCTCAAGGGCGTGTTCAC	0.463													A	149357534	G	A	149357534	3	1	166	1	0	0	0	0	1	0	0	0	10631	1232	43	4	2507	4	NR3C2	4	149357534	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2781057	149357534	41796742	357	90899											
FHDC1	85462	broad.mit.edu	37	chr4	153896924	153896924	+	Frame_Shift_Del	DEL	C	C	-													tcctccaaccctacatccagCccccctggggaggctcctgc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:153896923_153896923GC>G	uc003inf.2	+	10	2555	c.2480_2480GC>G	c.(2479-2481)agcfs	p.S827fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	827					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)					CCTACATCCAGCCCCCCTGGG	0.632													-	153896924	C	-	153896924	7	5	166	1	0	1	0	1	0	0	0	0	5876	738	26	0	2523	0	FHDC1	4	153896924	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	4539390	153896924	37257352	358	90900											
DCHS2	54798	broad.mit.edu	37	chr4	155250793	155250793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggggagccgcggtctGtcactagcacagtcatctca	14	11	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:155250793G>A	uc003inw.2	-	11	2435	c.2435C>T	c.(2434-2436)ACA>ATA	p.T812I	DCHS2_uc003inx.2_Missense_Mutation_p.T1267I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	812	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCCGCGGTCTGTCACTAGCAC	0.552													A	155250793	G	A	155250793	3	1	166	1	0	0	0	0	1	0	0	0	4288	1377	48	4	6471	4	DCHS2	4	155250793	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1353869	155250793	35903483	359	90901											
FAM198B	51313	broad.mit.edu	37	chr4	159092457	159092457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggctgctccagagcttaCgcacccgcgggacgcacagg	14	16	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:159092457C>T	uc003ipp.3	-	2	523	c.71G>A	c.(70-72)CGT>CAT	p.R24H	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R24H|FAM198B_uc003ipr.3_Missense_Mutation_p.R24H|FAM198B_uc003ips.2_Missense_Mutation_p.R24H|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	24	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						CCAGAGCTTACGCACCCGCGG	0.612													T	159092457	C	T	159092457	3	4	166	1	0	0	0	0	1	0	0	0	5529	536	19	1	1609	1	FAM198B	4	159092457	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3841664	159092457	32061819	360	90902											
FNIP2	57600	broad.mit.edu	37	chr4	159756572	159756572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttagcacacagcacaccagTtgatatgccaagcagaggac	9	12	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:159756572T>A	uc003iqe.3	+	7	854	c.671T>A	c.(670-672)GTT>GAT	p.V224D		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	224					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGCACACCAGTTGATATGCCA	0.373													A	159756572	T	A	159756572	3	1	166	1	0	0	0	0	1	0	0	0	5976	1725	60	5	697	5	FNIP2	4	159756572	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	664115	159756572	31397704	361	90903											
RAPGEF2	9693	broad.mit.edu	37	chr4	160253755	160253755	+	Frame_Shift_Del	DEL	A	A	-													taggacttgaaaaagtgaacAaaaaaagtaaagccaacact							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:160253754_160253754CA>C	uc003iqg.4	+	10	1867	c.1557_1557CA>C	c.(1555-1557)aacfs	p.N519fs		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	519					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|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)		AAAAAGTGAACAAAAAAAGTA	0.418													-	160253755	A	-	160253755	7	5	166	1	0	1	0	1	0	0	0	0	13044	131	5	0	1600	0	RAPGEF2	4	160253755	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	497183	160253755	30900521	362	90904											
MFAP3L	9848	broad.mit.edu	37	chr4	170913207	170913207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagaactcattgatggcCttctcagtcttctttagatg	7	9	4	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:170913207C>A	uc003isp.3	-	3	730	c.552G>T	c.(550-552)AAG>AAT	p.K184N	MFAP3L_uc003isn.3_Missense_Mutation_p.K81N	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	184	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		CATTGATGGCCTTCTCAGTCT	0.517													A	170913207	C	A	170913207	3	1	166	1	0	0	0	0	1	0	0	0	9516	680	24	5	681	5	MFAP3L	4	170913207	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	10659452	170913207	20241069	363	90905											
GALNTL6	442117	broad.mit.edu	37	chr4	172735778	172735778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgactttgttgttcaCggtggctttaattttcctgc	10	8	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:172735778C>T	uc003isv.2	+	2	783	c.47C>T	c.(46-48)ACG>ATG	p.T16M		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	16	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TTGTTGTTCACGGTGGCTTTA	0.478													T	172735778	C	T	172735778	3	4	166	1	0	0	0	0	1	0	0	0	6225	536	19	1	49	1	GALNTL6	4	172735778	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1822571	172735778	18418498	364	90906											
ASB5	140458	broad.mit.edu	37	chr4	177146478	177146478	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcatgtagtggtgatcGatctgcccaggaacctgtca	11	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:177146478G>A	uc003iuq.1	-	2	227	c.211C>T	c.(211-213)CGA>TGA	p.R71*	ASB5_uc003iup.1_Nonsense_Mutation_p.R18*	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	71	ANK 1.				intracellular signal transduction					skin(2)	2		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGTGGTGATCGATCTGCCCAG	0.338													A	177146478	G	A	177146478	4	1	166	1	0	0	0	0	0	1	0	0	1026	1066	37	1	802	1	ASB5	4	177146478	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4410700	177146478	14007798	365	90907											
AGA	175	broad.mit.edu	37	chr4	178352896	178352896	+	Frame_Shift_Del	DEL	T	T	-													ctttttcctcagttggctgaTttttttcggaattataaacc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:178352895_178352895AT>A	uc003iuu.2	-	8	1136	c.1008_1008AT>T	c.(1006-1008)aatfs	p.N336fs	AGA_uc010irt.2_Non-coding_Transcript|AGA_uc003iuw.3_Frame_Shift_Del_p.N326fs|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGG	0.368													-	178352896	T	-	178352896	7	5	166	1	0	1	0	1	0	0	0	0	365	1493	52	0	37	0	AGA	4	178352896	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	1206418	178352896	12801380	366	90908											
C4orf41	60684	broad.mit.edu	37	chr4	184605943	184605943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagtgctcctacctcAtggcccaattaaaggattac	7	12	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:184605943A>G	uc003ivx.2	+	15	1692	c.1516A>G	c.(1516-1518)ATG>GTG	p.M506V	C4orf41_uc003ivw.2_Missense_Mutation_p.M506V|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Missense_Mutation_p.M112V	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	506											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CTCCTACCTCATGGCCCAATT	0.383													G	184605943	A	G	184605943	3	3	166	1	0	0	0	0	1	0	0	0	2270	217	8	3	1570	3	C4orf41	4	184605943	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	6253047	184605943	6548333	367	90909											
HELT	391723	broad.mit.edu	37	chr4	185941867	185941867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattacctcaacctgatcGgccacgcgcaccccaacgcc	8	19	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:185941867G>A	uc011ckq.1	+	4	925	c.925G>A	c.(925-927)GGC>AGC	p.G309S	HELT_uc011cko.1_Missense_Mutation_p.G224S|HELT_uc003ixa.3_Missense_Mutation_p.G223S|HELT_uc011ckp.1_Missense_Mutation_p.G167S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	309							DNA binding				0		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)		CAACCTGATCGGCCACGCGCA	0.692													A	185941867	G	A	185941867	3	1	166	1	0	0	0	0	1	0	0	0	7048	1116	39	1	939	1	HELT	4	185941867	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1335924	185941867	5212409	368	90910											
FAT1	2195	broad.mit.edu	37	chr4	187527365	187527365	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accgtgagcgtgtaacctgaAatcttttcaggcaaaagaca	9	9	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:187527365A>T	uc003izf.2	-	17	10397	c.10209T>A	c.(10207-10209)ATT>ATA	p.I3403I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3403	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGTAACCTGAAATCTTTTCAG	0.512										HNSCC(5;0.00058)			T	187527365	A	T	187527365	2	4	166	1	0	0	0	0	0	0	0	1	5689	10	1	5		5	FAT1	4	187527365	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1585498	187527365	3626911	369	90911											
ZDHHC11	79844	broad.mit.edu	37	chr5	825347	825347	+	Frame_Shift_Del	DEL	G	G	-													taagtgcttgtgaatcagcaGggagctcttggctttgactc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:825346_825346AG>A	uc011cma.1	-	7	1340	c.956_956CT>T	c.(955-957)ctgfs	p.L319fs	ZDHHC11_uc010itc.3_5'Flank|ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	319						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTGAATCAGCAGGGAGCTCTT	0.557													-	825347	G	-	825347	7	5	166	1	0	1	0	1	0	0	0	0	17598	991	35	0	303	0	ZDHHC11	5	825347	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08		825347	180089913	370	90912											
IRX1	79192	broad.mit.edu	37	chr5	3601109	3601109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcagctctctggccccGcaggagggaacgccgcggat	14	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:3601109G>A	uc003jde.2	+	4	1450	c.1398G>A	c.(1396-1398)CCG>CCA	p.P466P		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	466						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CTCTGGCCCCGCAGGAGGGAA	0.657													A	3601109	G	A	3601109	2	1	166	1	0	0	0	0	0	0	0	1	7843	1074	38	1		1	IRX1	5	3601109	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2775762	3601109	177314151	371	90913											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303789	5303789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgacgctgtctgcacctcCgagcccaagcccaggatgca	10	18	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:5303789C>T	uc003jdl.2	+	20	3234	c.3096C>T	c.(3094-3096)TCC>TCT	p.S1032S	ADAMTS16_uc003jdk.1_Silent_p.S1032S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1032	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TCTGCACCTCCGAGCCCAAGC	0.652													T	5303789	C	T	5303789	2	4	166	1	0	0	0	0	0	0	0	1	261	639	23	1		1	ADAMTS16	5	5303789	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1702680	5303789	175611471	372	90914											
SEMA5A	9037	broad.mit.edu	37	chr5	9052130	9052130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaccagtccgaccactcCgaccagctctctgcagagac	8	17	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:9052130C>T	uc003jek.2	-	20	3412	c.2700G>A	c.(2698-2700)TCG>TCA	p.S900S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	900	Extracellular (Potential).|TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCGACCACTCCGACCAGCTCT	0.577													T	9052130	C	T	9052130	2	4	166	1	0	0	0	0	0	0	0	1	14037	639	23	1		1	SEMA5A	5	9052130	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3748341	9052130	171863130	373	90915											
DAP	1611	broad.mit.edu	37	chr5	10681222	10681222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaggatgcttgtccatGgaggcatgcggcttctggtg	18	7	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:10681222G>A	uc003jez.3	-	4	462	c.255C>T	c.(253-255)TCC>TCT	p.S85S	DAP_uc011cmw.1_Missense_Mutation_p.P71L	NM_004394	NP_004385	P51397	DAP1_HUMAN	death-associated protein	85					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding				0		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				GCTTGTCCATGGAGGCATGCG	0.602													A	10681222	G	A	10681222	2	1	166	1	0	0	0	0	0	0	0	1	4233	1335	47	4		4	DAP	5	10681222	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1629092	10681222	170234038	374	90916											
CTNND2	1501	broad.mit.edu	37	chr5	11082891	11082891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacacggtcattgtctattCggagcagctccacgaggatg	11	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:11082891C>T	uc003jfa.1	-	16	2850	c.2705G>A	c.(2704-2706)CGA>CAA	p.R902Q	CTNND2_uc010itt.2_Missense_Mutation_p.R811Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R565Q|CTNND2_uc011cmz.1_Missense_Mutation_p.R469Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R494Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	902	ARM 8.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						ATTGTCTATTCGGAGCAGCTC	0.547													T	11082891	C	T	11082891	3	4	166	1	0	0	0	0	1	0	0	0	4020	884	31	1	1000	1	CTNND2	5	11082891	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	401669	11082891	169832369	375	90917											
DNAH5	1767	broad.mit.edu	37	chr5	13735996	13735996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatacatctcattaaccaagCgcatctcagtaatgaggaag	8	9	2	1	rs139914691		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:13735996C>T	uc003jfd.2	-	67	11543	c.11501G>A	c.(11500-11502)CGC>CAC	p.R3834H	DNAH5_uc003jfc.2_Missense_Mutation_p.R2H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3834					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ATTAACCAAGCGCATCTCAGT	0.488									Kartagener_syndrome				T	13735996	C	T	13735996	3	4	166	1	0	0	0	0	1	0	0	0	4604	768	27	1	2425	1	DNAH5	5	13735996	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2653105	13735996	167179264	376	90918											
PDZD2	23037	broad.mit.edu	37	chr5	31799500	31799500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagtacatccagctgAactttgctgtggatgagagt	13	7	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:31799500A>G	uc003jhl.2	+	2	533	c.145A>G	c.(145-147)AAC>GAC	p.N49D	PDZD2_uc003jhm.2_Missense_Mutation_p.N49D	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	49					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CATCCAGCTGAACTTTGCTGT	0.602													G	31799500	A	G	31799500	3	3	166	1	0	0	0	0	1	0	0	0	11701	246	9	3	147	3	PDZD2	5	31799500	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	18063504	31799500	149115760	377	90919											
PDZD2	23037	broad.mit.edu	37	chr5	32048734	32048734	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggatgttggaggtctccCgagatggccggaaacactcc	13	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:32048734C>T	uc003jhl.2	+	8	1997	c.1609C>T	c.(1609-1611)CGA>TGA	p.R537*	PDZD2_uc003jhm.2_Nonsense_Mutation_p.R537*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.R363*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGAGGTCTCCCGAGATGGCCG	0.562													T	32048734	C	T	32048734	4	4	166	1	0	0	0	0	0	1	0	0	11701	644	23	1	1635	1	PDZD2	5	32048734	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	249234	32048734	148866526	378	90920											
PARP8	79668	broad.mit.edu	37	chr5	50137811	50137811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatttcagctatgaagacgGccaagtgggagatgcaaata	12	6	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:50137811G>A	uc003jon.3	+	27	2656	c.2474G>A	c.(2473-2475)GGC>GAC	p.G825D	PARP8_uc011cpz.1_Missense_Mutation_p.G717D|PARP8_uc003joo.2_Missense_Mutation_p.G825D|PARP8_uc003jop.2_Missense_Mutation_p.G783D	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	825	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TATGAAGACGGCCAAGTGGGA	0.338													A	50137811	G	A	50137811	3	1	166	1	0	0	0	0	1	0	0	0	11465	1203	42	2	2576	2	PARP8	5	50137811	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	18089077	50137811	130777449	379	90921											
SKIV2L2	23517	broad.mit.edu	37	chr5	54696084	54696084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagaaacgttttcctgaCggcatccccttattagaccc	7	13	1	3	rs143135345	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:54696084C>T	uc003jpy.3	+	21	2582	c.2316C>T	c.(2314-2316)GAC>GAT	p.D772D	SKIV2L2_uc011cqi.1_Silent_p.D671D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	772					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTTTTCCTGACGGCATCCCCT	0.343													T	54696084	C	T	54696084	2	4	166	1	0	0	0	0	0	0	0	1	14360	535	19	1		1	SKIV2L2	5	54696084	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4558273	54696084	126219176	380	90922											
MAP3K1	4214	broad.mit.edu	37	chr5	56179395	56179395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccaaagcaaaacaaccGtatagagaagacactgaatg	7	9	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:56179395G>A	uc003jqw.3	+	15	4209	c.3708G>A	c.(3706-3708)CCG>CCA	p.P1236P		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1236					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			ovary(1)|skin(1)	2		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)		CAAAACAACCGTATAGAGAAG	0.383													A	56179395	G	A	56179395	2	1	166	1	0	0	0	0	0	0	0	1	9243	1132	40	1		1	MAP3K1	5	56179395	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1483311	56179395	124735865	381	90923											
SLC30A5	64924	broad.mit.edu	37	chr5	68398896	68398896	+	Frame_Shift_Del	DEL	T	T	-													tcaatatttacaggactgcaTtttttatggttttgtttcaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:68398895_68398895AT>A	uc003jvh.3	+	2	520	c.213_213AT>A	c.(211-213)gcafs	p.A71fs	SLC30A5_uc003jvg.3_Frame_Shift_Del_p.A71fs|SLC30A5_uc011crc.2_Frame_Shift_Del_p.A30fs|SLC30A5_uc003jvi.3_5'UTR	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	71					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|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)		ACAGGACTGCATTTTTTATGG	0.279													-	68398896	T	-	68398896	7	5	166	1	0	1	0	1	0	0	0	0	14558	1493	52	0	224	0	SLC30A5	5	68398896	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	12219501	68398896	112516364	382	90924											
RGNEF	64283	broad.mit.edu	37	chr5	73045775	73045775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcatgattgcagagcgCatcgaggataacgttctcca	10	10	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:73045775C>T	uc011csq.1	+	2	158	c.147C>T	c.(145-147)CGC>CGT	p.R49R	RGNEF_uc003kcx.2_Silent_p.R49R|RGNEF_uc003kcy.1_Silent_p.R49R|RGNEF_uc010izf.2_Silent_p.R49R	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	49					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TTGCAGAGCGCATCGAGGATA	0.458													T	73045775	C	T	73045775	2	4	166	1	0	0	0	0	0	0	0	1	13283	697	25	2		2	RGNEF	5	73045775	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4646879	73045775	107869485	383	90925											
COL4A3BP	10087	broad.mit.edu	37	chr5	74681788	74681788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacttcatgtcctgtgacGcctttaactgcatgggtagc	10	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:74681788G>A	uc011csu.1	-	13	1778	c.1356C>T	c.(1354-1356)GGC>GGT	p.G452G	COL4A3BP_uc003kds.2_Silent_p.G426G|COL4A3BP_uc003kdt.2_Silent_p.G580G|COL4A3BP_uc003kdu.2_Silent_p.G452G	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	452	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			skin(1)	1		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)		GTCCTGTGACGCCTTTAACTG	0.333													A	74681788	G	A	74681788	2	1	166	1	0	0	0	0	0	0	0	1	3692	1074	38	1		1	COL4A3BP	5	74681788	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1636013	74681788	106233472	384	90926											
CMYA5	202333	broad.mit.edu	37	chr5	79089347	79089347	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgcccagcatatcgactCggcatctgctccagctcggc	10	16	1	0	rs148082008	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:79089347C>T	uc003kgc.2	+	12	11949	c.11877C>T	c.(11875-11877)CTC>CTT	p.L3959L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3959	B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		CATATCGACTCGGCATCTGCT	0.587													T	79089347	C	T	79089347	2	4	166	1	0	0	0	0	0	0	0	1	3590	871	31	1		1	CMYA5	5	79089347	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4407559	79089347	101825913	385	90927											
ZFYVE16	9765	broad.mit.edu	37	chr5	79746297	79746297	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccaatggattgcatggcTtgggacaggcagaaattatt	11	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:79746297T>C	uc003kgr.3	+	10	3576	c.3274T>C	c.(3274-3276)TTG>CTG	p.L1092L	ZFYVE16_uc003kgp.2_Silent_p.L1092L|ZFYVE16_uc003kgq.3_Silent_p.L1092L|ZFYVE16_uc003kgs.3_Silent_p.L1092L|ZFYVE16_uc003kgt.3_Silent_p.L180L	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1092					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				0		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)		ATTGCATGGCTTGGGACAGGC	0.308													C	79746297	T	C	79746297	2	2	166	1	0	0	0	0	0	0	0	1	17661	1606	56	3		3	ZFYVE16	5	79746297	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	656950	79746297	101168963	386	90928											
RASGRF2	5924	broad.mit.edu	37	chr5	80256573	80256573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatgcagaagagcgtgCgctacaacgaggggcacgcc	14	13	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:80256573C>T	uc003kha.1	+	1	16	c.16C>T	c.(16-18)CGC>TGC	p.R6C	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	6					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			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		GAAGAGCGTGCGCTACAACGA	0.711													T	80256573	C	T	80256573	3	4	166	1	0	0	0	0	1	0	0	0	13073	768	27	1	18	1	RASGRF2	5	80256573	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	510276	80256573	100658687	387	90929											
HAPLN1	1404	broad.mit.edu	37	chr5	82940461	82940461	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagattgtagcgccccagtcGtggaaagtaagggaatacca	13	8	0	1	rs147329529	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:82940461G>A	uc003kim.2	-	3	567	c.496C>T	c.(496-498)CGA>TGA	p.R166*	HAPLN1_uc003kin.2_Nonsense_Mutation_p.R166*	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	166	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		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)		CGCCCCAGTCGTGGAAAGTAA	0.532													A	82940461	G	A	82940461	4	1	166	1	0	0	0	0	0	1	0	0	6954	1153	40	1	576	1	HAPLN1	5	82940461	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2683888	82940461	97974799	388	90930											
RASA1	5921	broad.mit.edu	37	chr5	86668007	86668007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacatccaataaacgccttCgtcaggtgaagcttaatttt	8	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:86668007C>T	uc003kiw.2	+	13	1889	c.1771C>T	c.(1771-1773)CGT>TGT	p.R591C	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R414C|RASA1_uc011ctv.1_Missense_Mutation_p.R424C|RASA1_uc011ctw.1_Missense_Mutation_p.R425C|RASA1_uc010jaw.2_Missense_Mutation_p.R413C	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	591	C2.				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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		TAAACGCCTTCGTCAGGTGAA	0.353													T	86668007	C	T	86668007	3	4	166	1	0	0	0	0	1	0	0	0	13060	884	31	1	1833	1	RASA1	5	86668007	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3727546	86668007	94247253	389	90931											
MEF2C	4208	broad.mit.edu	37	chr5	88025035	88025035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgacaaagctactcacCggtaccatatgttgttgaaa	7	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:88025035C>T	uc003kjj.2	-	9	1637	c.964G>A	c.(964-966)GAG>AAG	p.E322K	MEF2C_uc003kji.2_Missense_Mutation_p.E314K|MEF2C_uc003kjk.2_Missense_Mutation_p.E322K|MEF2C_uc003kjm.2_Missense_Mutation_p.E312K|MEF2C_uc003kjl.2_Missense_Mutation_p.E332K	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	322					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			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		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)		AGCTACTCACCGGTACCATAT	0.378										HNSCC(66;0.2)			T	88025035	C	T	88025035	3	4	166	1	0	0	0	0	1	0	0	0	9457	666	23	1	469	1	MEF2C	5	88025035	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1357028	88025035	92890225	390	90932											
RGMB	285704	broad.mit.edu	37	chr5	98115403	98115403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttttgcaaggccttgCgtgcctatgctggctgcacc	12	12	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:98115403C>T	uc003knc.2	+	4	781	c.379C>T	c.(379-381)CGT>TGT	p.R127C	RGMB_uc003knb.2_Missense_Mutation_p.R127C	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	86					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAAGGCCTTGCGTGCCTATGC	0.542													T	98115403	C	T	98115403	3	4	166	1	0	0	0	0	1	0	0	0	13281	768	27	1	389	1	RGMB	5	98115403	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	10090368	98115403	82799857	391	90933											
WDR36	134430	broad.mit.edu	37	chr5	110446870	110446870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcatttatcttgctagtGgcattctgggactcgccttg	12	9	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:110446870G>A	uc003kpd.2	+	15	1894	c.1777G>A	c.(1777-1779)GGC>AGC	p.G593S	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	593					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		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)		TCTTGCTAGTGGCATTCTGGG	0.388													A	110446870	G	A	110446870	3	1	166	1	0	0	0	0	1	0	0	0	17287	1362	47	4	1835	4	WDR36	5	110446870	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	12331467	110446870	70468390	392	90934											
APC	324	broad.mit.edu	37	chr5	112175150	112175150	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcagctgaagatgaaAtaggatgtaatcagacgaca	10	6	3	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:112175150A>C	uc010jby.2	+	16	4239	c.3859A>C	c.(3859-3861)ATA>CTA	p.I1287L	APC_uc011cvt.1_Missense_Mutation_p.I1269L|APC_uc003kpz.3_Missense_Mutation_p.I1287L|APC_uc003kpy.3_Missense_Mutation_p.I1287L|APC_uc010jbz.2_Missense_Mutation_p.I1004L|APC_uc010jca.2_Missense_Mutation_p.I587L	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1287	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				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.I1287fs*1(2)|p.I1287fs*3(2)|p.I1287fs*18(1)|p.?(1)|p.I1287fs*4(1)|p.K1192fs*3(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		TGAAGATGAAATAGGATGTAA	0.348		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			C	112175150	A	C	112175150	3	2	166	1	0	0	0	0	1	0	0	0	763	101	4	5	3917	5	APC	5	112175150	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1728280	112175150	68740110	393	90935											
APC	324	broad.mit.edu	37	chr5	112176568	112176568	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgcgtcttcttctgcAcccaacaaaaatcagttaga	6	12	5	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:112176568A>C	uc010jby.2	+	16	5657	c.5277A>C	c.(5275-5277)GCA>GCC	p.A1759A	APC_uc011cvt.1_Silent_p.A1741A|APC_uc003kpz.3_Silent_p.A1759A|APC_uc003kpy.3_Silent_p.A1759A|APC_uc010jbz.2_Silent_p.A1476A|APC_uc010jca.2_Silent_p.A1059A	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1759	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.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		CTTCTTCTGCACCCAACAAAA	0.388		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			C	112176568	A	C	112176568	2	2	166	1	0	0	0	0	0	0	0	1	763	146	6	5		5	APC	5	112176568	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1418	112176568	68738692	394	90936											
ZNF474	133923	broad.mit.edu	37	chr5	121488178	121488178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagagtgcccaggctcagCtgctgccctgtgaatcctgt	11	13	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:121488178C>A	uc003ksv.2	+	2	869	c.493C>A	c.(493-495)CTG>ATG	p.L165M		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	165						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCAGGCTCAGCTGCTGCCCTG	0.557													A	121488178	C	A	121488178	3	1	166	1	0	0	0	0	1	0	0	0	17929	796	28	5	495	5	ZNF474	5	121488178	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	9311610	121488178	59427082	395	90937											
MEGF10	84466	broad.mit.edu	37	chr5	126776468	126776468	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatggaaaagattgtgcactGatatgccaatgtcaaaacgg	10	6	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:126776468G>A	uc003kuh.3	+	19	2633	c.2271G>A	c.(2269-2271)CTG>CTA	p.L757L	MEGF10_uc003kui.3_Silent_p.L757L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	757	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 14.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		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)		ATTGTGCACTGATATGCCAAT	0.512													A	126776468	G	A	126776468	2	1	166	1	0	0	0	0	0	0	0	1	9460	1277	45	4		4	MEGF10	5	126776468	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5288290	126776468	54138792	396	90938											
SLC27A6	28965	broad.mit.edu	37	chr5	128359405	128359405	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcatgtgaaaaaaggTaagacttctatttgaagaca	8	4	2	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:128359405T>C	uc003kuy.2	+	7	1651	c.1255_splice	c.e7+2	p.G419_splice	SLC27A6_uc003kuz.2_Splice_Site_p.G419_splice	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid						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				0		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)		TGAAAAAAGGTAAGACTTCTA	0.274													C	128359405	T	C	128359405	5	2	166	1	0	0	0	0	0	0	1	0	14530	1652	57	3	1279	3	SLC27A6	5	128359405	Splice_Site	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1582937	128359405	52555855	397	90939											
CHSY3	337876	broad.mit.edu	37	chr5	129241165	129241165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcagccccccaacgccGgccagcccccgccacccctg	9	25	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:129241165G>A	uc003kvd.2	+	1	643	c.643G>A	c.(643-645)GGC>AGC	p.G215S		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	215	Lumenal (Potential).|Pro-rich.					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			ovary(2)|pancreas(1)	3		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)		CCCCAACGCCGGCCAGCCCCC	0.657													A	129241165	G	A	129241165	3	1	166	1	0	0	0	0	1	0	0	0	3413	1116	39	1	645	1	CHSY3	5	129241165	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	881760	129241165	51674095	398	90940											
ACSL6	23305	broad.mit.edu	37	chr5	131305865	131305865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtacatccagctgtgCactcagtttggccataacct	9	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:131305865C>T	uc010jdo.1	-	15	1471	c.1388G>A	c.(1387-1389)TGC>TAC	p.C463Y	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.C488Y|ACSL6_uc003kvy.1_Missense_Mutation_p.C488Y|ACSL6_uc003kwb.2_Missense_Mutation_p.C453Y|ACSL6_uc003kvz.1_Missense_Mutation_p.C388Y|ACSL6_uc003kwa.1_Missense_Mutation_p.C474Y|ACSL6_uc003kvw.1_Missense_Mutation_p.C109Y|ACSL6_uc010jdn.1_Missense_Mutation_p.C478Y	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	463	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGCTGTGCACTCAGTTTG	0.527													T	131305865	C	T	131305865	3	4	166	1	0	0	0	0	1	0	0	0	181	710	25	2	733	2	ACSL6	5	131305865	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2064700	131305865	49609395	399	90941											
ACSL6	23305	broad.mit.edu	37	chr5	131329888	131329888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctagctcaggcagtcGcagtatcctcaggatctcct	9	14	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:131329888G>A	uc010jdo.1	-	2	114	c.31C>T	c.(31-33)CGA>TGA	p.R11*	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Nonsense_Mutation_p.R36*|ACSL6_uc003kvy.1_Nonsense_Mutation_p.R36*|ACSL6_uc003kwb.2_Nonsense_Mutation_p.R36*|ACSL6_uc003kvz.1_Nonsense_Mutation_p.R11*|ACSL6_uc003kwa.1_Nonsense_Mutation_p.R22*|ACSL6_uc003kwc.1_Nonsense_Mutation_p.R11*|ACSL6_uc003kwd.1_Nonsense_Mutation_p.R11*|ACSL6_uc010jdn.1_Nonsense_Mutation_p.R11*	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	11					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGCAGTCGCAGTATCCTC	0.542													A	131329888	G	A	131329888	4	1	166	1	0	0	0	0	0	1	0	0	181	1095	38	1	2224	1	ACSL6	5	131329888	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	24023	131329888	49585372	400	90942											
RAD50	10111	broad.mit.edu	37	chr5	131911487	131911487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctcaagaaacagatGtgagagcccagattcgtctg	12	8	2	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:131911487G>A	uc003kxi.2	+	3	619	c.232G>A	c.(232-234)GTG>ATG	p.V78M	RAD50_uc003kxg.1_Translation_Start_Site|RAD50_uc003kxh.2_Translation_Start_Site	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	78					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			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAAACAGATGTGAGAGCCCA	0.373								Homologous_recombination					A	131911487	G	A	131911487	3	1	166	1	0	0	0	0	1	0	0	0	12984	1377	48	4	242	4	RAD50	5	131911487	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	581599	131911487	49003773	401	90943											
AFF4	27125	broad.mit.edu	37	chr5	132270345	132270345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccactactgctacctgCgctggtccgctggctactat	10	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:132270345C>T	uc003kyd.2	-	3	820	c.412G>A	c.(412-414)GCA>ACA	p.A138T	AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.A138T|AFF4_uc003kyf.3_Missense_Mutation_p.A138T	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	138	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTACCTGCGCTGGTCCGC	0.537													T	132270345	C	T	132270345	3	4	166	1	0	0	0	0	1	0	0	0	359	768	27	1	3155	1	AFF4	5	132270345	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	358858	132270345	48644915	402	90944											
CATSPER3	347732	broad.mit.edu	37	chr5	134305722	134305722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgtcacatcgaatgcGttttttatggccttgtggac	10	9	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:134305722G>A	uc003lag.2	+	2	260	c.192G>A	c.(190-192)GCG>GCA	p.A64A		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	64	Helical; Name=Segment S1; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCGAATGCGTTTTTTATGG	0.388													A	134305722	G	A	134305722	2	1	166	1	0	0	0	0	0	0	0	1	2689	1132	40	1		1	CATSPER3	5	134305722	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2035377	134305722	46609538	403	90945											
CATSPER3	347732	broad.mit.edu	37	chr5	134346089	134346089	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgactgcacaagtttcagTgagctggtggagaactttaa	12	7	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:134346089T>C	uc003lag.2	+	7	1031	c.963T>C	c.(961-963)AGT>AGC	p.S321S		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	321					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGTTTCAGTGAGCTGGTGG	0.468													C	134346089	T	C	134346089	2	2	166	1	0	0	0	0	0	0	0	1	2689	1693	59	3		3	CATSPER3	5	134346089	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	40367	134346089	46569171	404	90946											
EGR1	1958	broad.mit.edu	37	chr5	137803102	137803102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaaacccagccgcatgCgcaagtaccccaaccggccc	7	19	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:137803102C>T	uc003ldb.1	+	2	1234	c.964C>T	c.(964-966)CGC>TGC	p.R322C	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	322					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCCGCATGCGCAAGTACCC	0.617													T	137803102	C	T	137803102	3	4	166	1	0	0	0	0	1	0	0	0	4971	768	27	1	970	1	EGR1	5	137803102	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3457013	137803102	43112158	405	90947											
SIL1	64374	broad.mit.edu	37	chr5	138287504	138287504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagtgagcggctgctcCgtggccaggatgaccagcag	15	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:138287504C>T	uc003ldm.2	-	7	854	c.837G>A	c.(835-837)ACG>ACA	p.T279T	SIL1_uc003ldn.2_Silent_p.T278T|SIL1_uc003ldo.2_Silent_p.T279T|SIL1_uc003ldp.2_Silent_p.T279T|SIL1_uc003ldq.1_Silent_p.T72T	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	279					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCGGCTGCTCCGTGGCCAGGA	0.607									Marinesco-Sj_gren_syndrome				T	138287504	C	T	138287504	2	4	166	1	0	0	0	0	0	0	0	1	14321	639	23	1		1	SIL1	5	138287504	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	484402	138287504	42627756	406	90948											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	166	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-CG-4306-01A-01D-1158-08	476871	138764375	42150885	407	90949											
CXXC5	51523	broad.mit.edu	37	chr5	139060917	139060917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatgtgcgcgccctgccGgcggcgcatcaactgcgagc	15	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:139060917G>A	uc010jfg.1	+	2	1099	c.809G>A	c.(808-810)CGG>CAG	p.R270Q	CXXC5_uc003let.2_Missense_Mutation_p.R270Q	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	270	CXXC-type.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCCTGCCGGCGGCGCATC	0.572													A	139060917	G	A	139060917	3	1	166	1	0	0	0	0	1	0	0	0	4099	1116	39	1	811	1	CXXC5	5	139060917	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	296542	139060917	41854343	408	90950											
PCDHA5	56143	broad.mit.edu	37	chr5	140202504	140202504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgactcaggtgccaacGggcaggtgacctgctcccta	12	14	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140202504G>A	uc003lhl.2	+	1	1144	c.1144G>A	c.(1144-1146)GGG>AGG	p.G382R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G382R|PCDHA5_uc003lhj.1_Missense_Mutation_p.G382R	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	382	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCCAACGGGCAGGTGAC	0.577													A	140202504	G	A	140202504	3	1	166	1	0	0	0	0	1	0	0	0	11527	1116	39	1	1146	1	PCDHA5	5	140202504	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1141587	140202504	40712756	409	90951											
PCDHA8	56140	broad.mit.edu	37	chr5	140221143	140221143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttctggaggtaagtctGcagaatggcattttgtttgt	12	6	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140221143G>A	uc003lhs.2	+	1	237	c.237G>A	c.(235-237)CTG>CTA	p.L79L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L79L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	79	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAAGTCTGCAGAATGGCA	0.642													A	140221143	G	A	140221143	2	1	166	1	0	0	0	0	0	0	0	1	11530	1306	46	2		2	PCDHA8	5	140221143	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	18639	140221143	40694117	410	90952											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346615	140346615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgcgcccagtccgcgCtacctggagctggacctgac	14	15	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140346615C>T	uc003lii.2	+	1	504	c.264C>T	c.(262-264)CGC>CGT	p.R88R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.R88R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	88	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTCCGCGCTACCTGGAGC	0.687													T	140346615	C	T	140346615	2	4	166	1	0	0	0	0	0	0	0	1	11533	784	28	2		2	PCDHAC2	5	140346615	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	125472	140346615	40568645	411	90953											
PCDHB8	56128	broad.mit.edu	37	chr5	140558711	140558711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgcgcctgaaactgtgGttgcacttttcagtgtttca	10	8	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140558711G>A	uc011dai.1	+	1	1282	c.1096G>A	c.(1096-1098)GTT>ATT	p.V366I	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	366	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACTGTGGTTGCACTTTT	0.458													A	140558711	G	A	140558711	3	1	166	1	0	0	0	0	1	0	0	0	11548	1261	44	4	1098	4	PCDHB8	5	140558711	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	212096	140558711	40356549	412	90954											
PCDHB16	57717	broad.mit.edu	37	chr5	140564305	140564305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcggcctcggtgggccGctgctcgatgcctgagggcc	18	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140564305G>A	uc003liv.2	+	1	3326	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGCCGCTGCTCGATG	0.662													A	140564305	G	A	140564305	3	1	166	1	0	0	0	0	1	0	0	0	11541	1087	38	1	2173	1	PCDHB16	5	140564305	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5594	140564305	40350955	413	90955											
PCDHB10	56126	broad.mit.edu	37	chr5	140573738	140573738	+	Frame_Shift_Del	DEL	C	C	-													gggcgccacagaccgcggctCccccgcgctgagcagagagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140573737_140573737TC>T	uc003lix.3	+	0	1786	c.1612_1612TC>T	c.(1612-1614)tccfs	p.S538fs		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	538	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)			AGACCGCGGCTCCCCCGCGCT	0.692													-	140573738	C	-	140573738	7	5	166	1	0	1	0	1	0	0	0	0	11535	855	30	0	1615	0	PCDHB10	5	140573738	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	9433	140573738	40341522	414	90956											
SLC25A2	83884	broad.mit.edu	37	chr5	140683317	140683317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtacaggtcagggaacGtctgcatcttcacttttatt	8	10	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140683317G>A	uc003ljf.2	-	1	296	c.116C>T	c.(115-117)ACG>ATG	p.T39M		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	39	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.T39M(1)		ovary(1)	1		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)	GTCAGGGAACGTCTGCATCTT	0.612													A	140683317	G	A	140683317	3	1	166	1	0	0	0	0	1	0	0	0	14482	1145	40	1	793	1	SLC25A2	5	140683317	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	109579	140683317	40231943	415	90957											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712162	140712162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctggacagagacgcGctcaagcagagtctcgtggt	14	12	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140712162G>A	uc003lji.1	+	1	1911	c.1911G>A	c.(1909-1911)GCG>GCA	p.A637A	PCDHGA1_uc011dan.1_Silent_p.A637A	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	637	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A637A(1)		ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.697													A	140712162	G	A	140712162	2	1	166	1	0	0	0	0	0	0	0	1	11550	1074	38	1		1	PCDHGA1	5	140712162	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	28845	140712162	40203098	416	90958											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745766	140745766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcggttgggctgcacacGggcgaggtgcgcacagcgcg	18	11	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140745766G>A	uc003lju.1	+	1	1869	c.1869G>A	c.(1867-1869)ACG>ACA	p.T623T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.T623T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCACACGGGCGAGGTGC	0.652													A	140745766	G	A	140745766	2	1	166	1	0	0	0	0	0	0	0	1	11557	1103	39	1		1	PCDHGA5	5	140745766	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	33604	140745766	40169494	417	90959											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779369	140779369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacaacgcaccgcgggtgCtgtaccccgcgctgggtccc	13	17	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140779369C>T	uc003lkf.1	+	1	1675	c.1675C>T	c.(1675-1677)CTG>TTG	p.L559L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.L559L	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	559	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGGTGCTGTACCCCGC	0.687													T	140779369	C	T	140779369	2	4	166	1	0	0	0	0	0	0	0	1	11566	796	28	2		2	PCDHGB5	5	140779369	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	33603	140779369	40135891	418	90960											
PCDHGA10	56106	broad.mit.edu	37	chr5	140792807	140792807	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgggctggtcctgctctgccTtttcttcgggattccatggg	13	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140792807T>A	uc003lkl.1	+	1	65	c.65T>A	c.(64-66)CTT>CAT	p.L22H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.L22H	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCTGCCTTTTCTTCGGG	0.512											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140792807	T	A	140792807	3	1	166	1	0	0	0	0	1	0	0	0	11551	1609	56	5	67	5	PCDHGA10	5	140792807	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	13438	140792807	40122453	419	90961											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794633	140794633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcacacgggcgaggtgCgcacggcgcgagccctgctg	19	13	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140794633C>T	uc003lkl.1	+	1	1891	c.1891C>T	c.(1891-1893)CGC>TGC	p.R631C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.R631C|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	631	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGGTGCGCACGGCGCG	0.692													T	140794633	C	T	140794633	3	4	166	1	0	0	0	0	1	0	0	0	11551	768	27	1	1893	1	PCDHGA10	5	140794633	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1826	140794633	40120627	420	90962											
PCDH1	5097	broad.mit.edu	37	chr5	141243184	141243184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtttcccttggaggcCttgccactgggcttgggggc	14	11	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:141243184C>A	uc003llq.2	-	3	2829	c.2712G>T	c.(2710-2712)AAG>AAT	p.K904N	PCDH1_uc003llp.2_Missense_Mutation_p.K904N|PCDH1_uc011dbf.1_Missense_Mutation_p.K882N	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	904	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		CCTTGGAGGCCTTGCCACTGG	0.582													A	141243184	C	A	141243184	3	1	166	1	0	0	0	0	1	0	0	0	11506	680	24	5	1097	5	PCDH1	5	141243184	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	448551	141243184	39672076	421	90963											
ARHGAP26	23092	broad.mit.edu	37	chr5	142273906	142273906	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagatgtttgagtttgTggagcctgtaagtagatatt	13	2	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:142273906T>G	uc011dbj.1	+	6	625	c.590T>G	c.(589-591)GTG>GGG	p.V197G	ARHGAP26_uc003lmt.2_Missense_Mutation_p.V197G|ARHGAP26_uc003lmw.2_Missense_Mutation_p.V197G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	197					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			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGAGTTTGTGGAGCCTGTA	0.408													G	142273906	T	G	142273906	3	3	166	1	0	0	0	0	1	0	0	0	875	1696	59	5	612	5	ARHGAP26	5	142273906	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1030722	142273906	38641354	422	90964											
FBXO38	81545	broad.mit.edu	37	chr5	147806940	147806941	+	Frame_Shift_Ins	INS	-	-	A													tagggatattcctgaaaagaINSaaaaaaacaaggatgtttat					rs78530338		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:147806939_147806940G>GA	uc003lpf.1	+	14	2202_2203	c.2082_2083G>GA	c.(2080-2085)aagaaafs	p.K694fs	FBXO38_uc003lpg.1_Frame_Shift_Ins_p.K694fs|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	694						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)			TTCCTGAAAAGAAAAAAAACAA	0.5													A	147806941	-	A	147806940	7	5	166	1	0	1	1	0	0	0	0	0	5746	247	9	0	2137	0	FBXO38	5	147806940	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	5533034	147806940	33108320	423	90965											
PDGFRB	5159	broad.mit.edu	37	chr5	149498364	149498364	+	Frame_Shift_Del	DEL	G	G	-													agcagcaccagctgggagaaGgggggccgaatctcaaactt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149498363_149498363AG>A	uc003lro.3	-	20	3320	c.2851_2851CT>T	c.(2851-2853)ttcfs	p.F951fs	PDGFRB_uc010jhd.3_Frame_Shift_Del_p.F790fs	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	951	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 DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|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)	AGCTGGGAGAAGGGGGGCCGA	0.577			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								-	149498364	G	-	149498364	7	5	166	1	0	1	0	1	0	0	0	0	11662	987	35	0	482	0	PDGFRB	5	149498364	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	1691424	149498364	31416896	424	90966											
PDGFRB	5159	broad.mit.edu	37	chr5	149498404	149498404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcccagcacttctgcAtgatctcatagctggggata	8	12	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149498404A>G	uc003lro.2	-	21	3279	c.2810T>C	c.(2809-2811)ATG>ACG	p.M937T	PDGFRB_uc010jhd.2_Missense_Mutation_p.M776T	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	937	Cytoplasmic (Potential).|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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	GCACTTCTGCATGATCTCATA	0.582			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								G	149498404	A	G	149498404	3	3	166	1	0	0	0	0	1	0	0	0	11662	217	8	3	522	3	PDGFRB	5	149498404	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	40	149498404	31416856	425	90967											
CAMK2A	815	broad.mit.edu	37	chr5	149602647	149602647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtctcctccgactgggcGgtgcgtgggatgccgccagc	17	14	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149602647G>A	uc003lru.2	-	17	1553	c.1338C>T	c.(1336-1338)ACC>ACT	p.T446T	CAMK2A_uc003lrs.2_Silent_p.T157T|CAMK2A_uc003lrt.2_Silent_p.T457T	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	446					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			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGACTGGGCGGTGCGTGGGA	0.647													A	149602647	G	A	149602647	2	1	166	1	0	0	0	0	0	0	0	1	2599	1103	39	1		1	CAMK2A	5	149602647	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	104243	149602647	31312613	426	90968											
NDST1	3340	broad.mit.edu	37	chr5	149918819	149918820	+	Frame_Shift_Ins	INS	-	-	CA													ggcagacctgcggcctcttcINSacacacaccatcttctacaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149918818_149918819T>TCA	uc003lsk.4	+	6	1968_1969	c.1466_1467T>TCA	c.(1465-1467)ttcfs	p.F489fs	NDST1_uc011dcj.2_Frame_Shift_Ins_p.F489fs|NDST1_uc003lsl.3_Frame_Shift_Ins_p.F489fs	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	489	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)			TGCGGCCTCTTCACACACACCA	0.604													CA	149918820	-	CA	149918819	7	5	166	1	0	1	1	0	0	0	0	0	10255	825	29	0	1489	0	NDST1	5	149918819	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	316172	149918819	30996441	427	90969											
FAT2	2196	broad.mit.edu	37	chr5	150923357	150923358	+	Frame_Shift_Ins	INS	-	-	T													gtaagaagagtccaggtgctINSttttgcaaaggttgaacata							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:150923356_150923357C>CT	uc003lue.4	-	8	7344_7345	c.7331_7332G>AG	c.(7330-7332)aagfs	p.K2444fs		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2444	Cadherin 21.				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)			AGTCCAGGTGCTTTTTGCAAAG	0.45													T	150923358	-	T	150923357	7	5	166	1	0	1	1	0	0	0	0	0	5690	1609	56	0	5778	0	FAT2	5	150923357	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1004538	150923357	29991903	428	90970											
FAT2	2196	broad.mit.edu	37	chr5	150946634	150946634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgataaaagggcgtttgaggGatatcactccggagaaatga	13	5	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:150946634G>A	uc003lue.3	-	1	1872	c.1859C>T	c.(1858-1860)TCC>TTC	p.S620F	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S620F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	620	Extracellular (Potential).|Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTTTGAGGGATATCACTCC	0.418													A	150946634	G	A	150946634	3	1	166	1	0	0	0	0	1	0	0	0	5690	1174	41	4	11282	4	FAT2	5	150946634	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	23277	150946634	29968626	429	90971											
HAVCR1	26762	broad.mit.edu	37	chr5	156482260	156482260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatgtcattgaaccaccCacggtgctcaacacggcaac	7	14	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:156482260C>T	uc010jij.1	-	3	516	c.331G>A	c.(331-333)GGG>AGG	p.G111R	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.G111R|HAVCR1_uc011ddm.1_Missense_Mutation_p.G111R	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	111	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			TTGAACCACCCACGGTGCTCA	0.408													T	156482260	C	T	156482260	3	4	166	1	0	0	0	0	1	0	0	0	6973	594	21	4	791	4	HAVCR1	5	156482260	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5535626	156482260	24433000	430	90972											
CYFIP2	26999	broad.mit.edu	37	chr5	156747709	156747709	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgactgggagggagggCgagagccccctaatgaccca	15	11	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:156747709C>T	uc003lwq.2	+	17	1708	c.1570C>T	c.(1570-1572)CGA>TGA	p.R524*	CYFIP2_uc011ddn.1_Nonsense_Mutation_p.R498*|CYFIP2_uc011ddo.1_Nonsense_Mutation_p.R328*|CYFIP2_uc003lwr.2_Nonsense_Mutation_p.R524*|CYFIP2_uc003lws.2_Nonsense_Mutation_p.R524*|CYFIP2_uc003lwt.2_Nonsense_Mutation_p.R402*|CYFIP2_uc011ddp.1_Nonsense_Mutation_p.R258*	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	524					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			GGAGGGAGGGCGAGAGCCCCC	0.557													T	156747709	C	T	156747709	4	4	166	1	0	0	0	0	0	1	0	0	4138	760	27	1	1624	1	CYFIP2	5	156747709	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	265449	156747709	24167551	431	90973											
PWWP2A	114825	broad.mit.edu	37	chr5	159520917	159520917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctcagctcgggatgcGggacaggagaagggtcatcg	16	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:159520917G>A	uc011ded.1	-	2	797	c.740C>T	c.(739-741)CCG>CTG	p.P247L	PWWP2A_uc003lxv.3_Missense_Mutation_p.P247L|PWWP2A_uc011dec.1_Missense_Mutation_p.P247L	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	247	Pro-rich.										0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCGGGATGCGGGACAGGAGA	0.517													A	159520917	G	A	159520917	3	1	166	1	0	0	0	0	1	0	0	0	12845	1116	39	1	1673	1	PWWP2A	5	159520917	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2773208	159520917	21394343	432	90974											
CCNJL	79616	broad.mit.edu	37	chr5	159680793	159680793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacggcatccttgaggacGttgtcatacactctgaaacg	10	11	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:159680793G>A	uc003lyb.1	-	7	1152	c.900C>T	c.(898-900)AAC>AAT	p.N300N	CCNJL_uc011dee.1_Silent_p.N252N|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	300						nucleus					0	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)			CCTTGAGGACGTTGTCATACA	0.582													A	159680793	G	A	159680793	2	1	166	1	0	0	0	0	0	0	0	1	2929	1136	40	1		1	CCNJL	5	159680793	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	159876	159680793	21234467	433	90975											
WWC1	23286	broad.mit.edu	37	chr5	167835607	167835607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagagttcgagtttcccGctaccgaaacagtacctgga	11	11	0	1	rs140218628	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:167835607G>A	uc003lzu.2	+	7	909	c.816G>A	c.(814-816)CCG>CCA	p.P272P	WWC1_uc003lzv.2_Silent_p.P272P|WWC1_uc011den.1_Silent_p.P272P|WWC1_uc003lzw.2_Silent_p.P71P	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	272					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			ovary(2)|skin(2)|breast(1)	5	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)		CGAGTTTCCCGCTACCGAAAC	0.592													A	167835607	G	A	167835607	2	1	166	1	0	0	0	0	0	0	0	1	17408	1074	38	1		1	WWC1	5	167835607	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	8154814	167835607	13079653	434	90976											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171781005	171781007	+	In_Frame_Del	DEL	CTC	CTC	-													gggtagatgactgtgtacttCtcctctgtggggacaaaagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:171781004_171781006TCTC>T	uc003mbr.3	-	8	842_844	c.671_673GAGA>A	c.(670-675)gagaag>gAag	p.K225del		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	225	SH3 2.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate 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)			ACTGTGTACTTCTCCTCTGTGGG	0.562													-	171781007	CTC	-	171781005	7	5	166	1	0	1	0	1	0	0	0	0	14257	912	32	0	2083	0	SH3PXD2B	5	171781005	In_Frame_Del	DEL	CTC	TCGA-CG-4306-01A-01D-1158-08	3945398	171781005	9134255	435	90977											
GPRIN1	114787	broad.mit.edu	37	chr5	176024847	176024847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttctctgaggcctgtggTgtctcctttttcaaacacac	7	13	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:176024847T>C	uc003meo.1	-	2	2164	c.1989A>G	c.(1987-1989)ACA>ACG	p.T663T		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	663						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTGTGGTGTCTCCTTTT	0.597													C	176024847	T	C	176024847	2	2	166	1	0	0	0	0	0	0	0	1	6729	1683	59	3		3	GPRIN1	5	176024847	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	4243842	176024847	4890413	436	90978											
GPRIN1	114787	broad.mit.edu	37	chr5	176025084	176025084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccttccccgagggcacCgggactgtttttcctggagt	11	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:176025084C>T	uc003meo.1	-	2	1927	c.1752G>A	c.(1750-1752)CCG>CCA	p.P584P		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	584						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGGCACCGGGACTGTTT	0.562													T	176025084	C	T	176025084	2	4	166	1	0	0	0	0	0	0	0	1	6729	639	23	1		1	GPRIN1	5	176025084	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	237	176025084	4890176	437	90979											
LMAN2	10960	broad.mit.edu	37	chr5	176765576	176765576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggactttgaagtggaCgtgcatttcccagtctttga	12	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:176765576C>T	uc003mge.2	-	3	583	c.346G>A	c.(346-348)GTC>ATC	p.V116I	LMAN2_uc003mgd.2_Missense_Mutation_p.V116I	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	116	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	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)			TTGAAGTGGACGTGCATTTCC	0.617													T	176765576	C	T	176765576	3	4	166	1	0	0	0	0	1	0	0	0	8838	536	19	1	748	1	LMAN2	5	176765576	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	740492	176765576	4149684	438	90980											
TRIM7	81786	broad.mit.edu	37	chr5	180622450	180622450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaggccctttcggcgcaCgctctcgcgggccacgccaa	12	18	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:180622450C>T	uc003mmz.1	-	7	1319	c.1252G>A	c.(1252-1254)GTG>ATG	p.V418M	TRIM7_uc003mmv.1_Missense_Mutation_p.V236M|TRIM7_uc003mmw.1_Missense_Mutation_p.V210M|TRIM7_uc003mmx.1_Missense_Mutation_p.V210M|TRIM7_uc003mmy.1_Missense_Mutation_p.V210M	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	418	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	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)		TTTCGGCGCACGCTCTCGCGG	0.721													T	180622450	C	T	180622450	3	4	166	1	0	0	0	0	1	0	0	0	16540	536	19	1	287	1	TRIM7	5	180622450	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3856874	180622450	292810	439	90981											
EXOC2	55770	broad.mit.edu	37	chr6	599180	599180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatctgccttgtctttcCgacctaatacttcttgaaac	6	11	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:599180C>T	uc003mtd.2	-	8	922	c.788G>A	c.(787-789)CGG>CAG	p.R263Q	EXOC2_uc003mte.2_Missense_Mutation_p.R263Q|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	263					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	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)		CTTGTCTTTCCGACCTAATAC	0.338													T	599180	C	T	599180	3	4	166	1	0	0	0	0	1	0	0	0	5302	652	23	1	2070	1	EXOC2	6	599180	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08		599180	170515887	440	90982											
FOXQ1	94234	broad.mit.edu	37	chr6	1313402	1313402	+	Frame_Shift_Del	DEL	T	T	-													acctcatgggcaagttccccTttttccgcggcagctacacg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:1313401_1313401CT>C	uc003mtl.4	+	0	727	c.462_462CT>C	c.(460-462)cccfs	p.P154fs		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	154					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	DNA bending activity|caspase regulator 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)		GCAAGTTCCCCTTTTTCCGCG	0.652													-	1313402	T	-	1313402	7	5	166	1	0	1	0	1	0	0	0	0	6030	1609	56	0	465	0	FOXQ1	6	1313402	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	714222	1313402	169801665	441	90983											
DSP	1832	broad.mit.edu	37	chr6	7584027	7584027	+	Frame_Shift_Del	DEL	A	A	-													actttgtggatccagtcaccAaaaagaaggtcagttacgtg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:7584026_7584026CA>C	uc003mxp.1	+	23	6810	c.6531_6531CA>C	c.(6529-6531)accfs	p.T2177fs	DSP_uc003mxq.1_Frame_Shift_Del_p.T1578fs|DSP_uc021yle.1_Frame_Shift_Del_p.T1734fs	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2177	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)		ATCCAGTCACCAAAAAGAAGG	0.478													-	7584027	A	-	7584027	7	5	166	1	0	1	0	1	0	0	0	0	4781	131	5	0	6626	0	DSP	6	7584027	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	6270625	7584027	163531040	442	90984											
SYCP2L	221711	broad.mit.edu	37	chr6	10902994	10902994	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatttgcttcaacaggAggtgagttgcaagtaacaaa	9	6	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:10902994A>T	uc003mzo.2	+	7	847	c.551A>T	c.(550-552)GAG>GTG	p.E184V	SYCP2L_uc011din.1_Missense_Mutation_p.E25V|SYCP2L_uc010jow.2_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	184						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTTCAACAGGAGGTGAGTTGC	0.373													T	10902994	A	T	10902994	3	4	166	1	0	0	0	0	1	0	0	0	15430	318	11	5	577	5	SYCP2L	6	10902994	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	3318967	10902994	160212073	443	90985											
JARID2	3720	broad.mit.edu	37	chr6	15497312	15497312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatccacaagctgggccGgcgctggggccccaacgtgc	14	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:15497312G>A	uc003nbj.2	+	7	2100	c.1856G>A	c.(1855-1857)CGG>CAG	p.R619Q	JARID2_uc011diu.1_Missense_Mutation_p.R483Q|JARID2_uc011div.1_Missense_Mutation_p.R447Q|JARID2_uc011diw.1_Missense_Mutation_p.R581Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	619					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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGCTGGGCCGGCGCTGGGGC	0.622													A	15497312	G	A	15497312	3	1	166	1	0	0	0	0	1	0	0	0	7945	1116	39	1	1882	1	JARID2	6	15497312	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4594318	15497312	155617755	444	90986											
NHLRC1	378884	broad.mit.edu	37	chr6	18122226	18122226	+	Frame_Shift_Del	DEL	A	A	-													atgacaagcttgatctggccAaaaaaatcaaacactttgat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:18122225_18122225CA>C	uc003ncl.1	-	0	627	c.613_613TG>G	c.(613-615)ggcfs	p.G205fs		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	205					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTGATCTGGCCAAAAAAATCA	0.522													-	18122226	A	-	18122226	7	5	166	1	0	1	0	1	0	0	0	0	10405	127	5	0	579	0	NHLRC1	6	18122226	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	2624914	18122226	152992841	445	90987											
GPLD1	2822	broad.mit.edu	37	chr6	24448144	24448144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagaataaaacgcagccaCaattcccttctgcttccctc	5	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:24448144C>T	uc003ned.1	-	17	1750	c.1639G>A	c.(1639-1641)GTG>ATG	p.V547M	GPLD1_uc010jpr.1_Missense_Mutation_p.V384M|GPLD1_uc010jps.1_Missense_Mutation_p.V547M	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	547	FG-GAP 3.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						AACGCAGCCACAATTCCCTTC	0.557													T	24448144	C	T	24448144	3	4	166	1	0	0	0	0	1	0	0	0	6614	478	17	4	919	4	GPLD1	6	24448144	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	6325918	24448144	146666923	446	90988											
GPLD1	2822	broad.mit.edu	37	chr6	24450073	24450073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacggccaggtcaggcaCgccgtccacgttaaagtcca	10	16	1	0	rs144999503		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:24450073C>T	uc003ned.1	-	15	1501	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M	GPLD1_uc010jpr.1_Missense_Mutation_p.V301M|GPLD1_uc010jps.1_Missense_Mutation_p.V464M	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	464	FG-GAP 2.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						AGGTCAGGCACGCCGTCCACG	0.622													T	24450073	C	T	24450073	3	4	166	1	0	0	0	0	1	0	0	0	6614	536	19	1	1176	1	GPLD1	6	24450073	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1929	24450073	146664994	447	90989											
FAM65B	9750	broad.mit.edu	37	chr6	24873113	24873113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcatagtacctaccaggCgagagtttcttttcatatct	7	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:24873113C>T	uc003neo.1	-	4	508	c.332G>A	c.(331-333)CGC>CAC	p.R111H	FAM65B_uc011djs.1_Missense_Mutation_p.R140H|FAM65B_uc011dju.1_Missense_Mutation_p.R145H|FAM65B_uc003nep.2_Missense_Mutation_p.R111H|FAM65B_uc011djt.1_Missense_Mutation_p.R111H	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	111	Potential.|Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						ACCTACCAGGCGAGAGTTTCT	0.408													T	24873113	C	T	24873113	3	4	166	1	0	0	0	0	1	0	0	0	5600	768	27	1	2964	1	FAM65B	6	24873113	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	423040	24873113	146241954	448	90990											
SCAND3	114821	broad.mit.edu	37	chr6	28540659	28540659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcatggcaagactttctcGatgaatgaagcaatgtgttg	10	6	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:28540659G>A	uc003nlo.2	-	4	3625	c.3007C>T	c.(3007-3009)CGA>TGA	p.R1003*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1003					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						agactttctcgatgaatgaag	0													A	28540659	G	A	28540659	4	1	166	1	0	0	0	0	0	1	0	0	13876	1066	37	1	974	1	SCAND3	6	28540659	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3667546	28540659	142574408	449	90991											
OR14J1	442191	broad.mit.edu	37	chr6	29274617	29274617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatcattaccgtggacCgtcgtctccattcccccatg	6	17	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29274617C>T	uc011dln.1	+	1	151	c.151C>T	c.(151-153)CGT>TGT	p.R51C		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TACCGTGGACCGTCGTCTCCA	0.468													T	29274617	C	T	29274617	3	4	166	1	0	0	0	0	1	0	0	0	10948	652	23	1	153	1	OR14J1	6	29274617	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	733958	29274617	141840450	450	90992											
OR2H1	26716	broad.mit.edu	37	chr6	29429649	29429649	+	Silent	SNP	T	T	C													ttgtcttcacttcctacctcTtgaccctggtgggcaacaca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29429649T>C	uc003nmi.2	+	3	546	c.103T>C	c.(103-105)TTG>CTG	p.L35L	OR2H1_uc003nmj.1_Silent_p.L35L|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCCTACCTCTTGACCCTGGT	0.522													C	29429649	T	C	29429649	2	2	166	1	0	0	0	0	0	0	0	1	11001	1606	56	3		3	OR2H1	6	29429649	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	155032	29429649	141685418	451	90993	443	3									
OR2H1	26716	broad.mit.edu	37	chr6	29429651	29429651	+	Silent	SNP	G	G	A													gtcttcacttcctacctcttGaccctggtgggcaacacact							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29429651G>A	uc003nmi.2	+	3	548	c.105G>A	c.(103-105)TTG>TTA	p.L35L	OR2H1_uc003nmj.1_Silent_p.L35L|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTACCTCTTGACCCTGGTGG	0.522													A	29429651	G	A	29429651	2	1	166	1	0	0	0	0	0	0	0	1	11001	1281	45	4		4	OR2H1	6	29429651	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2	29429651	141685416	452	90994	443	3									
OR2H1	26716	broad.mit.edu	37	chr6	29429657	29429657	+	Silent	SNP	G	G	A													acttcctacctcttgaccctGgtgggcaacacactcatcat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29429657G>A	uc003nmi.2	+	3	554	c.111G>A	c.(109-111)CTG>CTA	p.L37L	OR2H1_uc003nmj.1_Silent_p.L37L|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCTTGACCCTGGTGGGCAACA	0.527													A	29429657	G	A	29429657	2	1	166	1	0	0	0	0	0	0	0	1	11001	1335	47	4		4	OR2H1	6	29429657	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6	29429657	141685410	453	90995	443	3									
GABBR1	2550	broad.mit.edu	37	chr6	29599254	29599254	+	Frame_Shift_Del	DEL	C	C	-													gggccccaccacctcgcgctCcccccggcacacatactcaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29599253_29599253TC>T	uc003nmt.4	-	2	545	c.209_209GA>A	c.(208-210)gagfs	p.E70fs	GABBR1_uc003nmu.4_Frame_Shift_Del_p.E70fs|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Frame_Shift_Del_p.E70fs	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	70	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCTCGCGCTCCCCCCGGCA	0.632													-	29599254	C	-	29599254	7	5	166	1	0	1	0	1	0	0	0	0	6155	864	30	0	2906	0	GABBR1	6	29599254	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	169597	29599254	141515813	454	90996											
MDC1	9656	broad.mit.edu	37	chr6	30671304	30671304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttgcctggttttggaGtcacgacatcctgagattga	10	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:30671304G>A	uc003nrg.3	-	11	6013	c.5573C>T	c.(5572-5574)ACT>ATT	p.T1858I	MDC1_uc003nrf.3_Missense_Mutation_p.T489I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1858	Required for nuclear localization (NLS2).				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)|ovary(1)|kidney(1)	4						TGGTTTTGGAGTCACGACATC	0.507								Other_conserved_DNA_damage_response_genes					A	30671304	G	A	30671304	3	1	166	1	0	0	0	0	1	0	0	0	9403	1029	36	4	716	4	MDC1	6	30671304	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1072050	30671304	140443763	455	90997											
VARS2	57176	broad.mit.edu	37	chr6	30887543	30887543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcccttcagcatctacaCgggcgacagcttcgtcaccc	7	18	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:30887543C>T	uc003nsc.1	+	11	1715	c.1083C>T	c.(1081-1083)CAC>CAT	p.H361H	VARS2_uc011dmx.1_Silent_p.H361H|VARS2_uc011dmy.1_Silent_p.H221H|VARS2_uc011dmz.1_Silent_p.H391H|VARS2_uc011dna.1_Silent_p.H361H|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Translation_Start_Site|VARS2_uc010jsg.1_Translation_Start_Site	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	361					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						AGCATCTACACGGGCGACAGC	0.592													T	30887543	C	T	30887543	2	4	166	1	0	0	0	0	0	0	0	1	17121	535	19	1		1	VARS2	6	30887543	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	216239	30887543	140227524	456	90998											
CCHCR1	54535	broad.mit.edu	37	chr6	31124699	31124699	+	Frame_Shift_Del	DEL	G	G	-													ggccgagcttgaaagtgggaGgggggaatcagcccagtgga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31124698_31124698AG>A	uc003nsp.4	-	2	496	c.307_307CT>T	c.(307-309)tccfs	p.S103fs	CCHCR1_uc011dne.2_Frame_Shift_Del_p.S14fs|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Frame_Shift_Del_p.S14fs|CCHCR1_uc010jsk.1_Frame_Shift_Del_p.S14fs|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	14			R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130065).		cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGAAAGTGGGAGGGGGGAATC	0.547													-	31124699	G	-	31124699	7	5	166	1	0	1	0	1	0	0	0	0	2877	987	35	0	2373	0	CCHCR1	6	31124699	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	237156	31124699	139990368	457	90999											
TCF19	6941	broad.mit.edu	37	chr6	31129358	31129358	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcatgttccaacaagtaCgagtcaagcctcaggacttt	7	11	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31129358C>T	uc003nss.2	+	3	897	c.373C>T	c.(373-375)CGA>TGA	p.R125*	TCF19_uc003nst.2_Nonsense_Mutation_p.R125*	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	125					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCAACAAGTACGAGTCAAGCC	0.597													T	31129358	C	T	31129358	4	4	166	1	0	0	0	0	0	1	0	0	15686	528	19	1	379	1	TCF19	6	31129358	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4659	31129358	139985709	458	91000											
HLA-C	3107	broad.mit.edu	37	chr6	31324917	31324917	+	Frame_Shift_Del	DEL	G	G	-													gagcagcaggaggacggttcGgggcgccatgaccagcatct					rs41553720		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31324916_31324916CG>C	uc003nth.2	-	0	74	c.20_20CG>G	c.(19-21)cgafs	p.R7fs	HLA-C_uc003ntf.2_Frame_Shift_Del_p.R7fs|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_5'Flank|HLA-C_uc021yum.1_5'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	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	MHC class I protein complex|integral to membrane				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						GAGGACGGTTCGGGGCGCCAT	0.687													-	31324917	G	-	31324917	7	5	166	1	0	1	0	1	0	0	0	0	7197	1124	39	0		0	HLA-C	6	31324917	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	195559	31324917	139790150	459	91001											
C2	717	broad.mit.edu	37	chr6	31868847	31868847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaagtcggccacgatgCgtgcactgtgcatcagggag	16	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31868847C>T	uc011dop.1	+	1	72	c.4C>T	c.(4-6)CGT>TGT	p.R2C	C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|ZBTB12_uc003nyd.1_Missense_Mutation_p.R79H	NM_001145903	NP_001139375	P06681	CO2_HUMAN	complement component 2 isoform 2 preproprotein	Error:Variant_position_missing_in_P06681_after_alignment					complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGCCACGATGCGTGCACTGTG	0.612													T	31868847	C	T	31868847	3	4	166	1	0	0	0	0	1	0	0	0	2074	768	27	1	6	1	C2	6	31868847	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	543930	31868847	139246220	460	91002											
GPSM3	63940	broad.mit.edu	37	chr6	32159230	32159231	+	Frame_Shift_Ins	INS	-	-	C													gcaactccaggagctcttgcINSccccctggagggaggggagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:32159229_32159230G>GC	uc003oay.4	-	3	798_799	c.396_397C>GC	c.(394-399)gggcaafs	p.G132fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Frame_Shift_Ins_p.G132fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	132	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						AGGAGCTCTTGCCCCCCTGGAG	0.644													C	32159231	-	C	32159230	7	5	166	1	0	1	1	0	0	0	0	0	6736	726	26	0	90	0	GPSM3	6	32159230	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	290383	32159230	138955837	461	91003											
COL11A2	1302	broad.mit.edu	37	chr6	33154510	33154511	+	Frame_Shift_Ins	INS	-	-	C													ttggggtctttccctctggcINSccccctcgcattccagctcc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:33154509_33154510G>GC	uc003ocx.1	-	4	920_921	c.692_693C>GC	c.(691-693)ggcfs	p.G231fs	COL11A2_uc003ocy.1_Frame_Shift_Ins_p.G231fs|COL11A2_uc003ocz.1_Frame_Shift_Ins_p.G231fs|COL11A2_uc003oda.3_Frame_Shift_Ins_p.G231fs	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	231	Nonhelical 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						TTTCCCTCTGGCCCCCCTCGCA	0.554													C	33154511	-	C	33154510	7	5	166	1	0	1	1	0	0	0	0	0	3668	739	26	0	4841	0	COL11A2	6	33154510	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	995280	33154510	137960557	462	91004											
BAK1	578	broad.mit.edu	37	chr6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaggccatgctggtagaCgtgtagggccagacggtagc	16	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:33541918C>T	uc003oes.2	-	5	724	c.424G>A	c.(424-426)GTC>ATC	p.V142I	BAK1_uc003oer.2_Missense_Mutation_p.V72I|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.V142I|BAK1_uc003oeu.2_Missense_Mutation_p.V83I	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	142					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			ovary(1)	1						TGCTGGTAGACGTGTAGGGCC	0.597													T	33541918	C	T	33541918	3	4	166	1	0	0	0	0	1	0	0	0	1305	536	19	1	219	1	BAK1	6	33541918	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	387408	33541918	137573149	463	91005											
GRM4	2914	broad.mit.edu	37	chr6	34029714	34029714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatgactgccctggcgttCgaagtctccaggaggcggcg	15	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:34029714C>T	uc003oir.3	-	3	998	c.828G>A	c.(826-828)TCG>TCA	p.S276S	GRM4_uc011dsn.1_Silent_p.S276S|GRM4_uc010jvh.2_Silent_p.S276S|GRM4_uc010jvi.2_5'UTR|GRM4_uc003oio.2_5'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.S136S|GRM4_uc003oiq.2_Silent_p.S143S|GRM4_uc011dsm.1_Silent_p.S107S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	276	Extracellular (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CCCTGGCGTTCGAAGTCTCCA	0.632													T	34029714	C	T	34029714	2	4	166	1	0	0	0	0	0	0	0	1	6799	871	31	1		1	GRM4	6	34029714	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	487796	34029714	137085353	464	91006											
HMGA1	3159	broad.mit.edu	37	chr6	34210525	34210525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccaacacctaagagacctCggggccgaccaaagggaagc	12	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:34210525C>T	uc003oit.2	+	4	494	c.172C>T	c.(172-174)CGG>TGG	p.R58W	HMGA1_uc011dso.1_Missense_Mutation_p.R58W|HMGA1_uc003oiv.2_Missense_Mutation_p.R47W|HMGA1_uc003oiw.2_Missense_Mutation_p.R47W|HMGA1_uc003oiu.2_Missense_Mutation_p.R58W|HMGA1_uc003oiy.2_Missense_Mutation_p.R47W|HMGA1_uc003oiz.2_Missense_Mutation_p.R58W|HMGA1_uc003oja.2_Missense_Mutation_p.R47W|HMGA1_uc003oix.2_Missense_Mutation_p.R47W|HMGA1_uc010jvl.2_Intron|HMGA1_uc003ojc.2_Missense_Mutation_p.R47W|HMGA1_uc011dsp.1_RNA|HMGA1_uc003ojd.2_Missense_Mutation_p.R46W	NM_145899	NP_665906	P17096	HMGA1_HUMAN	high mobility group AT-hook 1 isoform a	58	Interaction with HIPK2 (By similarity).|A.T hook 2.			R->A: Decreases methylation by PRMT6. Abolishes methylation by PRMT6; when associated with A-60.	DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity				0						TAAGAGACCTCGGGGCCGACC	0.562			T	?	microfollicular thyroid adenoma| various benign mesenchymal tumors,								T	34210525	C	T	34210525	3	4	166	1	0	0	0	0	1	0	0	0	7223	875	31	1	178	1	HMGA1	6	34210525	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	180811	34210525	136904542	465	91007											
ZNF76	7629	broad.mit.edu	37	chr6	35259413	35259413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgcaaggtacatgtgcGcacccacacaggcgagaggc	12	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:35259413G>A	uc003oki.1	+	9	1035	c.830G>A	c.(829-831)CGC>CAC	p.R277H	ZNF76_uc011dsy.1_Missense_Mutation_p.R277H|ZNF76_uc011dsz.1_Missense_Mutation_p.R277H|ZNF76_uc003okj.1_Missense_Mutation_p.R277H	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	277	C2H2-type 4.				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				0						GTACATGTGCGCACCCACACA	0.597													A	35259413	G	A	35259413	3	1	166	1	0	0	0	0	1	0	0	0	18132	1087	38	1	860	1	ZNF76	6	35259413	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1048888	35259413	135855654	466	91008											
MOCS1	4337	broad.mit.edu	37	chr6	39874786	39874786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttccataaagtggccaCctggctggagaaactcattc	8	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:39874786C>T	uc003opb.2	-	10	1396	c.1258G>A	c.(1258-1260)GTG>ATG	p.V420M	MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Missense_Mutation_p.V404M|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Missense_Mutation_p.V317M	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	420	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAAGTGGCCACCTGGCTGGAG	0.567													T	39874786	C	T	39874786	3	4	166	1	0	0	0	0	1	0	0	0	9690	522	18	4		4	MOCS1	6	39874786	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4615373	39874786	131240281	467	91009											
USP49	25862	broad.mit.edu	37	chr6	41774419	41774419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtttctggccccggacCgccaggagggagcttcttag	13	13	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:41774419C>T	uc003ori.2	-	4	525	c.303G>A	c.(301-303)GCG>GCA	p.A101A		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	101					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			GGCCCCGGACCGCCAGGAGGG	0.627													T	41774419	C	T	41774419	2	4	166	1	0	0	0	0	0	0	0	1	17077	639	23	1		1	USP49	6	41774419	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1899633	41774419	129340648	468	91010											
CUL7	9820	broad.mit.edu	37	chr6	43019980	43019980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagggcttgtatcatccGgcctgcactccagcgaatct	11	13	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:43019980G>A	uc003otq.2	-	2	850	c.547C>T	c.(547-549)CGG>TGG	p.R183W	CUL7_uc011dvb.1_Missense_Mutation_p.R235W|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	183					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			TGTATCATCCGGCCTGCACTC	0.572													A	43019980	G	A	43019980	3	1	166	1	0	0	0	0	1	0	0	0	4060	1115	39	1	4745	1	CUL7	6	43019980	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1245561	43019980	128095087	469	91011											
TMEM63B	55362	broad.mit.edu	37	chr6	44116118	44116118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaatgagactatcaccGccatgtgagtccccaactcg	7	15	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:44116118G>A	uc003owr.2	+	13	1181	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T	TMEM63B_uc003owq.1_Missense_Mutation_p.A373T|TMEM63B_uc003ows.2_Missense_Mutation_p.A276T|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	373						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	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)			GACTATCACCGCCATGTGAGT	0.597													A	44116118	G	A	44116118	3	1	166	1	0	0	0	0	1	0	0	0	16188	1087	38	1	1163	1	TMEM63B	6	44116118	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1096138	44116118	126998949	470	91012											
TMEM63B	55362	broad.mit.edu	37	chr6	44122158	44122158	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaatggacggccccccacTgctgctgctgtccccaaatc	9	17	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:44122158T>C	uc003owr.2	+	23	2347	c.2283T>C	c.(2281-2283)ACT>ACC	p.T761T	TMEM63B_uc003ows.2_Silent_p.T664T|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	761						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	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)			GGCCCCCCACTGCTGCTGCTG	0.592													C	44122158	T	C	44122158	2	2	166	1	0	0	0	0	0	0	0	1	16188	1567	55	3		3	TMEM63B	6	44122158	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	6040	44122158	126992909	471	91013											
RHAG	6005	broad.mit.edu	37	chr6	49586939	49586939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggctttgcaggattccCtgtacaatagtgccccactg	9	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:49586939C>A	uc003ozk.3	-	2	356	c.294G>T	c.(292-294)CAG>CAT	p.Q98H	RHAG_uc010jzl.2_Missense_Mutation_p.Q98H|RHAG_uc010jzm.2_Missense_Mutation_p.Q98H	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	98	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)					GCAGGATTCCCTGTACAATAG	0.373													A	49586939	C	A	49586939	3	1	166	1	0	0	0	0	1	0	0	0	13315	680	24	5	971	5	RHAG	6	49586939	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5464781	49586939	121528128	472	91014											
GSTA1	2938	broad.mit.edu	37	chr6	52661013	52661013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtctttcccatagaggTtgtatttgctggcaatgtag	10	6	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:52661013T>C	uc003paz.2	-	4	351	c.239A>G	c.(238-240)AAC>AGC	p.N80S		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	80	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CCCATAGAGGTTGTATTTGCT	0.448													C	52661013	T	C	52661013	3	2	166	1	0	0	0	0	1	0	0	0	6830	1725	60	3	445	3	GSTA1	6	52661013	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	3074074	52661013	118454054	473	91015											
FAM83B	222584	broad.mit.edu	37	chr6	54805455	54805455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaacagttgtacaactggCtcctcaaattcaactatcat	5	10	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:54805455C>T	uc003pck.2	+	5	1802	c.1686C>T	c.(1684-1686)GGC>GGT	p.G562G		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	562										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GTACAACTGGCTCCTCAAATT	0.438													T	54805455	C	T	54805455	2	4	166	1	0	0	0	0	0	0	0	1	5634	784	28	2		2	FAM83B	6	54805455	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2144442	54805455	116309612	474	91016											
FAM83B	222584	broad.mit.edu	37	chr6	54805606	54805606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcaccaaaaatgcacAccttgcaggttcctgaaaac	8	12	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:54805606A>G	uc003pck.2	+	5	1953	c.1837A>G	c.(1837-1839)ACC>GCC	p.T613A		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	613										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					AAAAATGCACACCTTGCAGGT	0.428													G	54805606	A	G	54805606	3	3	166	1	0	0	0	0	1	0	0	0	5634	159	6	3	1851	3	FAM83B	6	54805606	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	151	54805606	116309461	475	91017											
FAM135A	57579	broad.mit.edu	37	chr6	71162259	71162259	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccacagagtagaagctagtTtgttgcatgcaacaggtaag	11	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:71162259T>A	uc003pfj.2	+	3	275	c.142T>A	c.(142-144)TTG>ATG	p.L48M	FAM135A_uc003pfi.2_Missense_Mutation_p.L48M|FAM135A_uc003pfh.2_Intron|FAM135A_uc003pfk.2_Missense_Mutation_p.L48M|FAM135A_uc003pfl.2_Translation_Start_Site	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	48										central_nervous_system(1)	1						AGAAGCTAGTTTGTTGCATGC	0.294													A	71162259	T	A	71162259	3	1	166	1	0	0	0	0	1	0	0	0	5448	1838	64	5	148	5	FAM135A	6	71162259	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	16356653	71162259	99952808	476	91018											
B3GAT2	135152	broad.mit.edu	37	chr6	71665875	71665875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggcggctgtaggtgggCgtgatggcatagatggtggg	21	6	0	2	rs147151504		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:71665875C>T	uc003pfv.2	-	1	914	c.258G>A	c.(256-258)ACG>ACA	p.T86T	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Silent_p.T86T	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	86	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TGTAGGTGGGCGTGATGGCAT	0.706													T	71665875	C	T	71665875	2	4	166	1	0	0	0	0	0	0	0	1	1254	755	27	1		1	B3GAT2	6	71665875	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	503616	71665875	99449192	477	91019											
DDX43	55510	broad.mit.edu	37	chr6	74110047	74110047	+	Frame_Shift_Del	DEL	A	A	-													cagtgatagacaattttgttAaaaagctagaagaaaattac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:74110046_74110046TA>T	uc003pgw.3	+	2	740	c.396_396TA>T	c.(394-396)gttfs	p.V132fs	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	132						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						ACAATTTTGTTAAAAAGCTAG	0.318													-	74110047	A	-	74110047	7	5	166	1	0	1	0	1	0	0	0	0	4363	363	13	0	407	0	DDX43	6	74110047	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	2444172	74110047	97005020	478	91020											
EEF1A1	1915	broad.mit.edu	37	chr6	74228320	74228320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccactcggccaacaggAacagtaccaatacctaaaaa	6	13	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:74228320A>G	uc003phi.2	-	5	823	c.786T>C	c.(784-786)GTT>GTC	p.V262V	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Silent_p.V252V|EEF1A1_uc003phf.2_Silent_p.V262V|EEF1A1_uc003phg.2_Silent_p.V262V|EEF1A1_uc003phh.2_Silent_p.V108V|EEF1A1_uc003phj.2_Silent_p.V262V|EEF1A1_uc003phk.2_Silent_p.V262V|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	262						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						GGCCAACAGGAACAGTACCAA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	74228320	A	G	74228320	2	3	166	1	0	0	0	0	0	0	0	1	4923	233	9	3		3	EEF1A1	6	74228320	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	118273	74228320	96886747	479	91021											
COL12A1	1303	broad.mit.edu	37	chr6	75797397	75797398	+	Frame_Shift_Ins	INS	-	-	G													tgagtttccaggacggccagINSgggggccagggggacctctt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:75797396_75797397A>AG	uc021zbv.1	-	63	9112_9113	c.9077_9078T>CT	c.(9076-9078)cctfs	p.P3026fs	COL12A1_uc021zbw.1_Frame_Shift_Ins_p.P1862fs|COL12A1_uc003phs.3_Frame_Shift_Ins_p.P3026fs|COL12A1_uc003pht.3_Frame_Shift_Ins_p.P1862fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3026	Triple-helical region (COL1) with 2 imperfections.				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						CAGGACGGCCAGGGGGGCCAGG	0.55													G	75797398	-	G	75797397	7	5	166	1	0	1	1	0	0	0	0	0	3669	1000	35	0	122	0	COL12A1	6	75797397	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1569077	75797397	95317670	480	91022											
COL12A1	1303	broad.mit.edu	37	chr6	75839937	75839937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactctcaggttccttggtCcactgcgtggtactaaataa	9	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:75839937C>T	uc003phs.2	-	37	6246	c.6080G>A	c.(6079-6081)GGA>GAA	p.G2027E	COL12A1_uc003pht.2_Missense_Mutation_p.G863E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2027	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GTTCCTTGGTCCACTGCGTGG	0.438													T	75839937	C	T	75839937	3	4	166	1	0	0	0	0	1	0	0	0	3669	855	30	4	3231	4	COL12A1	6	75839937	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	42540	75839937	95275130	481	91023											
IMPG1	3617	broad.mit.edu	37	chr6	76640734	76640734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggccacagaggcctgGttccagaccgtccaggctcc	13	16	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:76640734G>A	uc003pik.1	-	15	2309	c.2179C>T	c.(2179-2181)CCA>TCA	p.P727S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	727					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGAGGCCTGGTTCCAGACCG	0.572													A	76640734	G	A	76640734	3	1	166	1	0	0	0	0	1	0	0	0	7728	1261	44	4	226	4	IMPG1	6	76640734	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	800797	76640734	94474333	482	91024											
HTR1B	3351	broad.mit.edu	37	chr6	78172202	78172202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctttgcgctccctagCggccatgagtttcttctttt	11	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:78172202C>T	uc003pil.1	-	1	919	c.919G>A	c.(919-921)GCT>ACT	p.A307T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	307	Cytoplasmic (By similarity).				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				0		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)	CGCTCCCTAGCGGCCATGAGT	0.532													T	78172202	C	T	78172202	3	4	166	1	0	0	0	0	1	0	0	0	7437	768	27	1	257	1	HTR1B	6	78172202	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1531468	78172202	92942865	483	91025											
HTR1B	3351	broad.mit.edu	37	chr6	78172495	78172495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaccgtggagtagaccGtgtagaggatgtggtcggtg	16	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:78172495G>A	uc003pil.1	-	1	626	c.626C>T	c.(625-627)ACG>ATG	p.T209M		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	209	Helical; Name=5; (By similarity).				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				0		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)	GGAGTAGACCGTGTAGAGGAT	0.577													A	78172495	G	A	78172495	3	1	166	1	0	0	0	0	1	0	0	0	7437	1145	40	1	550	1	HTR1B	6	78172495	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	293	78172495	92942572	484	91026											
MDN1	23195	broad.mit.edu	37	chr6	90397120	90397120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcaaatcaagatgtttcCgcaaagacaaagctcgactt	7	9	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:90397120C>A	uc003pnn.1	-	68	11509	c.11393G>T	c.(11392-11394)CGG>CTG	p.R3798L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3798					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		AAGATGTTTCCGCAAAGACAA	0.403													A	90397120	C	A	90397120	3	1	166	1	0	0	0	0	1	0	0	0	9415	652	23	5	5537	5	MDN1	6	90397120	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	12224625	90397120	80717947	485	91027											
MDN1	23195	broad.mit.edu	37	chr6	90402222	90402222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctcccttgcataacacGtgggagcgcaggtaaaggag	12	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:90402222G>A	uc003pnn.1	-	63	10643	c.10527C>T	c.(10525-10527)CAC>CAT	p.H3509H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3509					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		TGCATAACACGTGGGAGCGCA	0.597													A	90402222	G	A	90402222	2	1	166	1	0	0	0	0	0	0	0	1	9415	1136	40	1		1	MDN1	6	90402222	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5102	90402222	80712845	486	91028											
MDN1	23195	broad.mit.edu	37	chr6	90428683	90428683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttggaatgactggtgcaGgagcaacaggggatggcggg	21	5	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:90428683G>A	uc003pnn.1	-	42	6240	c.6124C>T	c.(6124-6126)CTG>TTG	p.L2042L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2042					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		GACTGGTGCAGGAGCAACAGG	0.567													A	90428683	G	A	90428683	2	1	166	1	0	0	0	0	0	0	0	1	9415	991	35	4		4	MDN1	6	90428683	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	26461	90428683	80686384	487	91029											
RTN4IP1	84816	broad.mit.edu	37	chr6	107035691	107035691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgagaaaatctggagCccatgtttcagtggatccgc	10	9	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:107035691C>T	uc003prj.2	-	7	1330	c.853G>A	c.(853-855)GCT>ACT	p.A285T	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.A185T	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	285						mitochondrion	oxidoreductase activity|zinc ion binding				0	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)		AAATCTGGAGCCCATGTTTCA	0.448													T	107035691	C	T	107035691	3	4	166	1	0	0	0	0	1	0	0	0	13729	739	26	2	349	2	RTN4IP1	6	107035691	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	16607008	107035691	64079376	488	91030											
AKD1	221264	broad.mit.edu	37	chr6	109814599	109814600	+	Frame_Shift_Ins	INS	-	-	GA													taattgggtctatatttctgINSagagagagaaaggtctttaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:109814598_109814599T>TGA	uc003ptn.2	-	40	5786_5787	c.5709_5710A>TCA	c.(5707-5712)ctcagafs	p.L1903fs	AKD1_uc011eas.1_Frame_Shift_Ins_p.L288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1903					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TCTATATTTCTGAGAGAGAGAA	0.381													GA	109814600	-	GA	109814599	7	5	166	1	0	1	1	0	0	0	0	0	460	1277	45	0	30	0	AKD1	6	109814599	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2778908	109814599	61300468	489	91031											
AKD1	221264	broad.mit.edu	37	chr6	109816558	109816558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgttccagatatccagGcaaaggaagactagtaagaa	9	8	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:109816558G>A	uc003ptn.2	-	39	5478	c.5401C>T	c.(5401-5403)CCT>TCT	p.P1801S	AKD1_uc011eas.1_Missense_Mutation_p.P186S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1801					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						AGATATCCAGGCAAAGGAAGA	0.368													A	109816558	G	A	109816558	3	1	166	1	0	0	0	0	1	0	0	0	460	1203	42	2	346	2	AKD1	6	109816558	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1959	109816558	61298509	490	91032											
CDC40	51362	broad.mit.edu	37	chr6	110538952	110538952	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaatactgcaggaacaCagttcctcagtgcagcctat	8	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:110538952C>T	uc003pua.2	+	10	1060	c.1036C>T	c.(1036-1038)CAG>TAG	p.Q346*		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	346	WD 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		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)		TGCAGGAACACAGTTCCTCAG	0.408													T	110538952	C	T	110538952	4	4	166	1	0	0	0	0	0	1	0	0	3070	479	17	4	1074	4	CDC40	6	110538952	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	722394	110538952	60576115	491	91033											
C6orf186	728464	broad.mit.edu	37	chr6	110620349	110620349	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgggtatcatcacttcCtagcctataaagaaagagga	8	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:110620349C>A	uc010kdu.1	-	4	562	c.562G>T	c.(562-564)GGA>TGA	p.G188*	C6orf186_uc003pub.2_Translation_Start_Site	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	chromosome 6 open reading frame 186 precursor	188						extracellular region					0						TCATCACTTCCTAGCCTATAA	0.418													A	110620349	C	A	110620349	4	1	166	1	0	0	0	0	0	1	0	0	2347	690	24	5	546	5	C6orf186	6	110620349	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	81397	110620349	60494718	492	91034											
FYN	2534	broad.mit.edu	37	chr6	111983105	111983105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcctgcgggcagggcatcCtgtagcctcgctccacctgc	12	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:111983105C>A	uc003pvj.2	-	13	1791	c.1451G>T	c.(1450-1452)AGG>ATG	p.R484M	FYN_uc003pvi.2_Missense_Mutation_p.R429M|FYN_uc003pvk.2_Missense_Mutation_p.R484M|FYN_uc003pvh.2_Missense_Mutation_p.R481M	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	484	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			lung(5)|central_nervous_system(1)|skin(1)	7		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)	GCAGGGCATCCTGTAGCCTCG	0.607													A	111983105	C	A	111983105	3	1	166	1	0	0	0	0	1	0	0	0	6126	681	24	5	166	5	FYN	6	111983105	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1362756	111983105	59131962	493	91035											
LAMA4	3910	broad.mit.edu	37	chr6	112455712	112455712	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctcctccaatgtatatatCtgtaaaaggtattttcatct	5	8	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:112455712C>A	uc003pvu.2	-	26	3823	c.3514G>T	c.(3514-3516)GAT>TAT	p.D1172Y	LAMA4_uc003pvv.2_Missense_Mutation_p.D1165Y|LAMA4_uc003pvt.2_Missense_Mutation_p.D1165Y	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1172	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		ATGTATATATCTGTAAAAGGT	0.373													A	112455712	C	A	112455712	3	1	166	1	0	0	0	0	1	0	0	0	8608	913	32	5	2013	5	LAMA4	6	112455712	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	472607	112455712	58659355	494	91036											
TSPYL4	23270	broad.mit.edu	37	chr6	116574172	116574172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgggggtcttggcctcGgtgccagcggattggagtgg	19	9	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:116574172G>A	uc003pwn.2	-	1	1090	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Nonsense_Mutation_p.R162*|uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	334					nucleosome assembly	nucleus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCTTGGCCTCGGTGCCAGCGG	0.532													A	116574172	G	A	116574172	4	1	166	1	0	0	0	0	0	1	0	0	16658	1124	39	1	248	1	TSPYL4	6	116574172	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4118460	116574172	54540895	495	91037											
RSPH4A	345895	broad.mit.edu	37	chr6	116950769	116950771	+	In_Frame_Del	DEL	GAA	GAA	-													actccatacaaaaaaatgagGaagaagaagaggaagaagat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:116950768_116950770GGAA>G	uc003pxe.2	+	3	1846_1848	c.1701_1703GGAA>G	c.(1699-1704)gaggaa>gaGa	p.567_568EE>E	RSPH4A_uc010kee.2_Intron	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	567	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						AAAAAAATgaggaagaagaagag	0.374									Kartagener syndrome				-	116950771	GAA	-	116950769	7	5	166	1	0	1	0	1	0	0	0	0	13706	1175	41	0	1716	0	RSPH4A	6	116950769	In_Frame_Del	DEL	GAA	TCGA-CG-4306-01A-01D-1158-08	376597	116950769	54164298	496	91038											
GOPC	57120	broad.mit.edu	37	chr6	117884469	117884469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatctaattttgaagcaCcgtcatctagcggagtttca	8	9	5	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:117884469C>T	uc003pxu.2	-	9	1567	c.1337G>A	c.(1336-1338)GGT>GAT	p.G446D	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxs.2_Intron|GOPC_uc003pxv.2_Missense_Mutation_p.G438D	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	446					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		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)		TTTTGAAGCACCGTCATCTAG	0.353			O	ROS1	glioblastoma								T	117884469	C	T	117884469	3	4	166	1	0	0	0	0	1	0	0	0	6573	507	18	4	55	4	GOPC	6	117884469	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	933700	117884469	53230598	497	91039											
TPD52L1	7164	broad.mit.edu	37	chr6	125541338	125541338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaagcagagttagttcAggtatgtttagtaatcttat	9	3	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:125541338A>G	uc003pzu.1	+	2	353	c.134A>G	c.(133-135)CAG>CGG	p.Q45R	TPD52L1_uc003pzv.1_Missense_Mutation_p.Q45R|TPD52L1_uc003pzw.1_Missense_Mutation_p.Q45R|TPD52L1_uc003pzx.1_Missense_Mutation_p.Q16R|TPD52L1_uc003pzy.1_Missense_Mutation_p.Q16R|TPD52L1_uc003pzz.1_Missense_Mutation_p.Q16R	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	45	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GAGTTAGTTCAGGTATGTTTA	0.353													G	125541338	A	G	125541338	3	3	166	1	0	0	0	0	1	0	0	0	16395	202	7	3	140	3	TPD52L1	6	125541338	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	7656869	125541338	45573729	498	91040											
LAMA2	3908	broad.mit.edu	37	chr6	129785509	129785509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtcagccgtcccattcGctggtaccccaacatctcca	7	16	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:129785509G>A	uc003qbn.2	+	49	7172	c.7067G>A	c.(7066-7068)CGC>CAC	p.R2356H	LAMA2_uc003qbo.2_Missense_Mutation_p.R2356H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2356	Laminin G-like 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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGTCCCATTCGCTGGTACCCC	0.448													A	129785509	G	A	129785509	3	1	166	1	0	0	0	0	1	0	0	0	8606	1087	38	1	7265	1	LAMA2	6	129785509	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4244171	129785509	41329558	499	91041											
HBS1L	10767	broad.mit.edu	37	chr6	135317929	135317929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactacctttccctttcttcGccagtttcatccaagaccca	4	16	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:135317929G>A	uc003qez.2	-	7	1158	c.951C>T	c.(949-951)GGC>GGT	p.G317G	HBS1L_uc003qey.2_Silent_p.G153G|HBS1L_uc011ecy.1_Silent_p.G41G|HBS1L_uc011ecz.1_Silent_p.G153G|HBS1L_uc011eda.1_Silent_p.G275G	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	317					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCCTTTCTTCGCCAGTTTCAT	0.333													A	135317929	G	A	135317929	2	1	166	1	0	0	0	0	0	0	0	1	6987	1074	38	1		1	HBS1L	6	135317929	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5532420	135317929	35797138	500	91042											
MAP7	9053	broad.mit.edu	37	chr6	136687112	136687112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggcaaggaggatgtcGgtctgggtgtgccaggcaaa	19	7	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:136687112G>A	uc003qgz.2	-	10	1280	c.1034C>T	c.(1033-1035)CCG>CTG	p.P345L	MAP7_uc011edf.1_Missense_Mutation_p.P330L|MAP7_uc011edg.1_Missense_Mutation_p.P375L|MAP7_uc010kgu.2_Missense_Mutation_p.P367L|MAP7_uc011edh.1_Missense_Mutation_p.P330L|MAP7_uc010kgv.2_Missense_Mutation_p.P367L|MAP7_uc010kgs.2_Missense_Mutation_p.P199L|MAP7_uc011edi.1_Missense_Mutation_p.P199L|MAP7_uc010kgq.1_Missense_Mutation_p.P251L|MAP7_uc003qha.1_Missense_Mutation_p.P308L|MAP7_uc010kgr.2_Missense_Mutation_p.P199L	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGAGGATGTCGGTCTGGGTGT	0.587													A	136687112	G	A	136687112	3	1	166	1	0	0	0	0	1	0	0	0	9266	1116	39	1	1251	1	MAP7	6	136687112	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1369183	136687112	34427955	501	91043											
IL20RA	53832	broad.mit.edu	37	chr6	137322794	137322794	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctggagccggctcctcataGagtctagatagaagaccctc	10	12	3	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:137322794G>T	uc003qhj.2	-	7	1996	c.1563C>A	c.(1561-1563)CTC>CTA	p.L521L	IL20RA_uc011edl.1_Silent_p.L472L|IL20RA_uc003qhk.2_Silent_p.L410L|IL20RA_uc003qhi.2_Silent_p.L253L	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	521	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GCTCCTCATAGAGTCTAGATA	0.527													T	137322794	G	T	137322794	2	4	166	1	0	0	0	0	0	0	0	1	7668	929	33	5		5	IL20RA	6	137322794	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	635682	137322794	33792273	502	91044											
PHACTR2	9749	broad.mit.edu	37	chr6	144086414	144086415	+	Frame_Shift_Ins	INS	-	-	A													tagctggctcctctcattcaINSaaaaaaacaactggctctaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:144086413_144086414C>CA	uc010khi.3	+	5	909_910	c.710_711C>CA	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Ins_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Ins_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							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)		TCCTCTCATTCAAAAAAAACAA	0.396													A	144086415	-	A	144086414	7	5	166	1	0	1	1	0	0	0	0	0	11810	117	5	0	750	0	PHACTR2	6	144086414	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	6763620	144086414	27028653	503	91045											
GRM1	2911	broad.mit.edu	37	chr6	146720132	146720132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactctcattgccaaacctActaccacctcctgctacctc	2	19	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:146720132A>G	uc010khw.1	+	8	2427	c.1957A>G	c.(1957-1959)ACT>GCT	p.T653A	GRM1_uc010khv.1_Missense_Mutation_p.T653A|GRM1_uc003qll.2_Missense_Mutation_p.T653A|GRM1_uc011edz.1_Missense_Mutation_p.T653A|GRM1_uc011eea.1_Missense_Mutation_p.T653A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	653	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGCCAAACCTACTACCACCTC	0.517													G	146720132	A	G	146720132	3	3	166	1	0	0	0	0	1	0	0	0	6796	391	14	3	1983	3	GRM1	6	146720132	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	2633718	146720132	24394935	504	91046											
GRM1	2911	broad.mit.edu	37	chr6	146755775	146755775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgaccccggatgattcgcCtgcgctgacgcctccgtcgc	11	17	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:146755775C>A	uc010khw.1	+	9	3898	c.3428C>A	c.(3427-3429)CCT>CAT	p.P1143H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1143	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GATGATTCGCCTGCGCTGACG	0.662													A	146755775	C	A	146755775	3	1	166	1	0	0	0	0	1	0	0	0	6796	681	24	5	3523	5	GRM1	6	146755775	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	35643	146755775	24359292	505	91047											
STXBP5	134957	broad.mit.edu	37	chr6	147637446	147637446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacctttgccaacacccGtgggagggtccaaccctcag	9	17	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:147637446G>A	uc003qlz.2	+	16	1866	c.1705G>A	c.(1705-1707)GTG>ATG	p.V569M	STXBP5_uc010khz.1_Missense_Mutation_p.V569M|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.V240M	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	569	WD 9.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCCAACACCCGTGGGAGGGTC	0.463													A	147637446	G	A	147637446	3	1	166	1	0	0	0	0	1	0	0	0	15355	1145	40	1	1767	1	STXBP5	6	147637446	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	881671	147637446	23477621	506	91048											
UST	10090	broad.mit.edu	37	chr6	149285641	149285641	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgtcgctttggagactggaGaggggaacaaaatcacatga	13	8	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:149285641G>A	uc003qmg.2	+	5	919	c.623G>A	c.(622-624)AGA>AAA	p.R208K	uc003qmh.1_Intron	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	208	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGACTGGAGAGGGGAACAA	0.532													A	149285641	G	A	149285641	3	1	166	1	0	0	0	0	1	0	0	0	17090	942	33	4	641	4	UST	6	149285641	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1648195	149285641	21829426	507	91049											
PNLDC1	154197	broad.mit.edu	37	chr6	160230165	160230165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtttttctgtcttttTccaaatgctggtgaaagccc	10	8	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:160230165T>C	uc003qsx.1	+	9	896	c.725T>C	c.(724-726)TTC>TCC	p.F242S	PNLDC1_uc003qsy.1_Missense_Mutation_p.F253S	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	242	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCTGTCTTTTTCCAAATGCTG	0.413													C	160230165	T	C	160230165	3	2	166	1	0	0	0	0	1	0	0	0	12148	1783	62	3	755	3	PNLDC1	6	160230165	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	10944524	160230165	10884902	508	91050											
PARK2	5071	broad.mit.edu	37	chr6	161990428	161990428	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgatggagctctttaaTcaaggagttgggacagccag	14	6	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:161990428T>A	uc003qtx.3	-	8	1026	c.892A>T	c.(892-894)ATT>TTT	p.I298F	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.I107F|PARK2_uc003qtw.3_Missense_Mutation_p.I107F|PARK2_uc003qty.3_Missense_Mutation_p.I270F|PARK2_uc003qtz.3_Missense_Mutation_p.I149F|PARK2_uc010kke.1_Missense_Mutation_p.I317F|PARK2_uc011egf.1_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	298					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AGCTCTTTAATCAAGGAGTTG	0.423													A	161990428	T	A	161990428	3	1	166	1	0	0	0	0	1	0	0	0	11449	1435	50	5	525	5	PARK2	6	161990428	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1760263	161990428	9124639	509	91051											
FRMD1	79981	broad.mit.edu	37	chr6	168461463	168461464	+	Frame_Shift_Ins	INS	-	-	G													ggctgtcaccacgtgtgctgINSgggtggctgcggctggtcct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:168461462_168461463T>TG	uc003qwo.4	-	8	1385_1386	c.1320_1321A>CA	c.(1318-1323)cccagcfs	p.P440fs	FRMD1_uc003qwm.4_Frame_Shift_Ins_p.P234fs|FRMD1_uc011egs.2_Frame_Shift_Ins_p.P211fs|FRMD1_uc011egt.2_Frame_Shift_Ins_p.P375fs|FRMD1_uc003qwn.4_Frame_Shift_Ins_p.P372fs	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	440						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)		CCACGTGTGCTGGGGTGGCTGC	0.658													G	168461464	-	G	168461463	7	5	166	1	0	1	1	0	0	0	0	0	6049	1335	47	0	341	0	FRMD1	6	168461463	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	6471035	168461463	2653604	510	91052											
THBS2	7058	broad.mit.edu	37	chr6	169629684	169629684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttctcatcggtcacacCgtcattgtcatcgtcatcat	5	14	6	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:169629684C>T	uc003qwt.2	-	15	2490	c.2242G>A	c.(2242-2244)GGT>AGT	p.G748S		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	748	TSP type-3 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		TCGGTCACACCGTCATTGTCA	0.562													T	169629684	C	T	169629684	3	4	166	1	0	0	0	0	1	0	0	0	15851	652	23	1	1312	1	THBS2	6	169629684	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1168221	169629684	1485383	511	91053											
THBS2	7058	broad.mit.edu	37	chr6	169632789	169632789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttggctgcttccaggccGaccccgacgggctggttccc	13	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:169632789G>A	uc003qwt.2	-	13	2150	c.1902C>T	c.(1900-1902)GTC>GTT	p.V634V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	634	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CTTCCAGGCCGACCCCGACGG	0.602													A	169632789	G	A	169632789	2	1	166	1	0	0	0	0	0	0	0	1	15851	1045	37	1		1	THBS2	6	169632789	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3105	169632789	1482278	512	91054											
DLL1	28514	broad.mit.edu	37	chr6	170592160	170592160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgaagttgaacagccCgagtccggcctttttctttc	8	11	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:170592160C>T	uc003qxm.2	-	10	2552	c.2082G>A	c.(2080-2082)TCG>TCA	p.S694S		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	694	Cytoplasmic (Potential).				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			lung(4)|ovary(1)	5		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)		TTGAACAGCCCGAGTCCGGCC	0.463													T	170592160	C	T	170592160	2	4	166	1	0	0	0	0	0	0	0	1	4566	639	23	1		1	DLL1	6	170592160	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	959371	170592160	522907	513	91055											
IQCE	23288	broad.mit.edu	37	chr7	2625867	2625867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggagaagaagacgggcGccaaaaggcagaagaagatg	18	5	0	6			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:2625867G>A	uc003smo.3	+	12	1034	c.850G>A	c.(850-852)GCC>ACC	p.A284T	IQCE_uc010ksm.1_Missense_Mutation_p.A284T|IQCE_uc003sml.1_Missense_Mutation_p.A284T|IQCE_uc011jvy.1_Missense_Mutation_p.A268T|IQCE_uc011jvz.1_Missense_Mutation_p.A219T|IQCE_uc003smk.3_Missense_Mutation_p.A268T|IQCE_uc003smn.3_Missense_Mutation_p.A219T	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	284											0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAAGACGGGCGCCAAAAGGCA	0.572													A	2625867	G	A	2625867	3	1	166	1	0	0	0	0	1	0	0	0	7806	1087	38	1	896	1	IQCE	7	2625867	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08		2625867	156512796	514	91056											
CARD11	84433	broad.mit.edu	37	chr7	2953041	2953041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcgcagtagaaggcgcGtaccaggctgtaggggatga	17	9	0	2	rs149857605	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:2953041G>A	uc003smv.2	-	22	3303	c.2899C>T	c.(2899-2901)CGC>TGC	p.R967C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	967					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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGAAGGCGCGTACCAGGCTG	0.677			Mis		DLBCL								A	2953041	G	A	2953041	3	1	166	1	0	0	0	0	1	0	0	0	2645	1145	40	1	581	1	CARD11	7	2953041	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	327174	2953041	156185622	515	91057											
SDK1	221935	broad.mit.edu	37	chr7	4011175	4011175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctgcactgtggtgccAcacatgacccccgggtttca	10	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:4011175A>G	uc003smx.2	+	12	1931	c.1792A>G	c.(1792-1794)ACA>GCA	p.T598A		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	598	Ig-like C2-type 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CTGTGGTGCCACACATGACCC	0.522													G	4011175	A	G	4011175	3	3	166	1	0	0	0	0	1	0	0	0	13968	159	6	3	1838	3	SDK1	7	4011175	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1058134	4011175	155127488	516	91058											
SDK1	221935	broad.mit.edu	37	chr7	4091419	4091419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcaccacccctggggaCgggcctcccagcacacctca	9	19	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:4091419C>T	uc003smx.2	+	19	3007	c.2868C>T	c.(2866-2868)GAC>GAT	p.D956D	SDK1_uc010kso.2_Silent_p.D232D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	956	Fibronectin type-III 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CCCCTGGGGACGGGCCTCCCA	0.527													T	4091419	C	T	4091419	2	4	166	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4091419	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	80244	4091419	155047244	517	91059											
KIAA0415	9907	broad.mit.edu	37	chr7	4828500	4828500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccaccagctgctgcagcCcatggccggctgtgcccgcg	12	18	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:4828500C>A	uc003sne.2	+	13	1708	c.1625C>A	c.(1624-1626)CCC>CAC	p.P542H	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'UTR	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	542					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CTGCTGCAGCCCATGGCCGGC	0.706													A	4828500	C	A	4828500	3	1	166	1	0	0	0	0	1	0	0	0	8175	623	22	5	1675	5	KIAA0415	7	4828500	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	737081	4828500	154310163	518	91060											
FBXL18	80028	broad.mit.edu	37	chr7	5541183	5541183	+	Frame_Shift_Del	DEL	G	G	-													acctcctggttgatgtagccGggggccaggcgcgcatagaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:5541182_5541182CG>C	uc003soo.2	-	2	812	c.718_718CG>G	c.(718-720)ggcfs	p.G240fs	FBXL18_uc003son.4_Frame_Shift_Del_p.G240fs	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	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)		TTGATGTAGCCGGGGGCCAGG	0.652													-	5541183	G	-	5541183	7	5	166	1	0	1	0	1	0	0	0	0	5714	1103	39	0	1451	0	FBXL18	7	5541183	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	712683	5541183	153597480	519	91061											
CYTH3	9265	broad.mit.edu	37	chr7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-													tcttttagccaggaaagctaTtttttattggcaatccttcg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:6204577_6204577AT>A	uc003spt.3	-	12	1302	c.1198_1198AT>T	c.(1198-1200)tagfs	p.*400fs	CYTH3_uc011jws.2_Frame_Shift_Del_p.*315fs	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	0					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						CAGGAAAGCTATTTTTTATTG	0.532													-	6204578	T	-	6204578	7	5	166	1	0	1	0	1	0	0	0	0	4205	1490	52	0	6	0	CYTH3	7	6204578	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	663395	6204578	152934085	520	91062											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628377	6628377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagactactaacgagtggTacagaggtgactgggcctgg	14	9	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:6628377T>C	uc003sqi.2	+	9	1229	c.871T>C	c.(871-873)TAC>CAC	p.Y291H	ZDHHC4_uc003sql.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.Y291H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	291						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TAACGAGTGGTACAGAGGTGA	0.592													C	6628377	T	C	6628377	3	2	166	1	0	0	0	0	1	0	0	0	17614	1638	57	3	893	3	ZDHHC4	7	6628377	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	423799	6628377	152510286	521	91063											
THSD7A	221981	broad.mit.edu	37	chr7	11521445	11521445	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcataggccagaatggatcGtgctcgtatctgtttccctt	10	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:11521445G>A	uc003ssf.3	-	7	2239	c.1987C>T	c.(1987-1989)CGA>TGA	p.R663*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	663	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAATGGATCGTGCTCGTATC	0.517										HNSCC(18;0.044)			A	11521445	G	A	11521445	4	1	166	1	0	0	0	0	0	1	0	0	15876	1153	40	1	3070	1	THSD7A	7	11521445	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4893068	11521445	147617218	522	91064											
SCIN	85477	broad.mit.edu	37	chr7	12668733	12668733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattccttccagatttggcGtgtagaaaacaatggtagga	10	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:12668733G>A	uc003ssn.3	+	9	1415	c.1205G>A	c.(1204-1206)CGT>CAT	p.R402H	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.R155H	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	402	Ca(2+)-dependent actin binding.|Gelsolin-like 4.				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			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGATTTGGCGTGTAGAAAAC	0.338													A	12668733	G	A	12668733	3	1	166	1	0	0	0	0	1	0	0	0	13905	1145	40	1	1239	1	SCIN	7	12668733	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1147288	12668733	146469930	523	91065											
HOXA1	3198	broad.mit.edu	37	chr7	27135012	27135012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggagttattatacgtagCcagggccaggctctggtgct	13	9	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:27135012C>A	uc003sye.2	-	1	614	c.520G>T	c.(520-522)GCT>TCT	p.A174S	HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	174						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						TTATACGTAGCCAGGGCCAGG	0.592													A	27135012	C	A	27135012	3	1	166	1	0	0	0	0	1	0	0	0	7288	739	26	5	495	5	HOXA1	7	27135012	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	14466279	27135012	132003651	524	91066											
HOXA13	3209	broad.mit.edu	37	chr7	27237864	27237864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttttttctctttaacccTcctgttctggaaccagattg	6	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:27237864T>C	uc003szb.1	-	2	1149	c.1120A>G	c.(1120-1122)AGG>GGG	p.R374G	uc003szc.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	homeobox A13	374	Homeobox.				skeletal system development	nucleus	sequence-specific DNA binding			breast(1)	1						TCTTTAACCCTCCTGTTCTGG	0.418			T	NUP98	AML								C	27237864	T	C	27237864	3	2	166	1	0	0	0	0	1	0	0	0	7291	1550	54	3	50	3	HOXA13	7	27237864	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	102852	27237864	131900799	525	91067											
CPVL	54504	broad.mit.edu	37	chr7	29134756	29134756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggaagtctctgtcacGcactgtgaaaacaaagaaga	11	9	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:29134756G>A	uc003szv.2	-	5	525	c.406C>T	c.(406-408)CGT>TGT	p.R136C	CPVL_uc003szw.2_Missense_Mutation_p.R136C|CPVL_uc003szx.2_Missense_Mutation_p.R136C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	136					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TCTCTGTCACGCACTGTGAAA	0.547													A	29134756	G	A	29134756	3	1	166	1	0	0	0	0	1	0	0	0	3835	1087	38	1	1060	1	CPVL	7	29134756	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1896892	29134756	130003907	526	91068											
NOD1	10392	broad.mit.edu	37	chr7	30492371	30492371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcgtctagccggcccGtggcccagaggctctgcagc	13	18	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:30492371G>A	uc003tav.2	-	6	1185	c.662C>T	c.(661-663)ACG>ATG	p.T221M	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	221	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TAGCCGGCCCGTGGCCCAGAG	0.592													A	30492371	G	A	30492371	3	1	166	1	0	0	0	0	1	0	0	0	10516	1145	40	1	2235	1	NOD1	7	30492371	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1357615	30492371	128646292	527	91069											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124942	31124942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaagctgcactgcacacGcaacttcatccacatgaacc	7	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:31124942G>A	uc003tca.1	+	9	777	c.554G>A	c.(553-555)CGC>CAC	p.R185H	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.R164H|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.R185H|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.R185H|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.R185H|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	185	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						CACTGCACACGCAACTTCATC	0.542													A	31124942	G	A	31124942	3	1	166	1	0	0	0	0	1	0	0	0	303	1087	38	1	584	1	ADCYAP1R1	7	31124942	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	632571	31124942	128013721	528	91070											
GLI3	2737	broad.mit.edu	37	chr7	42005764	42005764	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcatgaactggaggcagGgccacgccaggctcgagggc	19	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:42005764G>T	uc011kbh.1	-	15	2998	c.2907C>A	c.(2905-2907)GCC>GCA	p.A969A	GLI3_uc011kbg.1_Silent_p.A910A	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	969					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGGAGGCAGGGCCACGCCAG	0.741									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005764	G	T	42005764	2	4	166	1	0	0	0	0	0	0	0	1	6439	1219	43	5		5	GLI3	7	42005764	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	10880822	42005764	117132899	529	91071											
HECW1	23072	broad.mit.edu	37	chr7	43484841	43484841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcgtgctacagcacGtcctgctacagcagctcgtg	10	15	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:43484841G>A	uc003tid.1	+	11	2675	c.2070G>A	c.(2068-2070)ACG>ACA	p.T690T	HECW1_uc011kbi.1_Silent_p.T690T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	690	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCTACAGCACGTCCTGCTACA	0.652													A	43484841	G	A	43484841	2	1	166	1	0	0	0	0	0	0	0	1	7042	1132	40	1		1	HECW1	7	43484841	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1479077	43484841	115653822	530	91072											
NPC1L1	29881	broad.mit.edu	37	chr7	44571767	44571767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctctccctggccaggcGggggcagctcctggggcttg	16	16	1	0	rs151211428		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:44571767G>A	uc003tlb.2	-	9	2515	c.2459C>T	c.(2458-2460)CCG>CTG	p.P820L	NPC1L1_uc003tlc.2_Missense_Mutation_p.P820L|NPC1L1_uc011kbw.1_Missense_Mutation_p.P820L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	820	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CTGGCCAGGCGGGGGCAGCTC	0.642													A	44571767	G	A	44571767	3	1	166	1	0	0	0	0	1	0	0	0	10571	1116	39	1	1668	1	NPC1L1	7	44571767	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1086926	44571767	114566896	531	91073											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801116	44801116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggtcctggagcccttcCgcctgcagcacaacctggct	13	15	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:44801116C>T	uc003tlr.2	+	10	1432	c.1309C>T	c.(1309-1311)CGC>TGC	p.R437C	ZMIZ2_uc003tlq.2_Missense_Mutation_p.R379C|ZMIZ2_uc003tls.2_Missense_Mutation_p.R411C|ZMIZ2_uc003tlt.2_Missense_Mutation_p.R60C|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	437	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						GGAGCCCTTCCGCCTGCAGCA	0.627													T	44801116	C	T	44801116	3	4	166	1	0	0	0	0	1	0	0	0	17694	652	23	1	1343	1	ZMIZ2	7	44801116	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	229349	44801116	114337547	532	91074											
ZPBP	11055	broad.mit.edu	37	chr7	49977188	49977188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcaatgaattccatcaCgggggttatatgatccaggg	13	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:49977188C>T	uc003tou.2	-	8	1062	c.992G>A	c.(991-993)CGT>CAT	p.R331H	ZPBP_uc011kci.1_Missense_Mutation_p.R257H|ZPBP_uc010kyw.2_Missense_Mutation_p.R330H	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	331					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					AATTCCATCACGGGGGTTATA	0.318													T	49977188	C	T	49977188	3	4	166	1	0	0	0	0	1	0	0	0	18216	536	19	1	67	1	ZPBP	7	49977188	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5176072	49977188	109161475	533	91075											
GRB10	2887	broad.mit.edu	37	chr7	50683938	50683938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtggagcaataaaggCcagatctccgcaaacacaca	9	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:50683938C>T	uc003tpi.2	-	8	984	c.953G>A	c.(952-954)GGC>GAC	p.G318D	GRB10_uc003tph.3_Missense_Mutation_p.G260D|GRB10_uc003tpj.2_Intron|GRB10_uc003tpk.2_Missense_Mutation_p.G318D|GRB10_uc010kzb.2_Missense_Mutation_p.G260D|GRB10_uc003tpl.2_Missense_Mutation_p.G312D|GRB10_uc003tpm.2_Missense_Mutation_p.G260D|GRB10_uc003tpn.2_Missense_Mutation_p.G260D	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	318	PH.				insulin receptor signaling pathway|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|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					GCAATAAAGGCCAGATCTCCG	0.473									Russell-Silver_syndrome				T	50683938	C	T	50683938	3	4	166	1	0	0	0	0	1	0	0	0	6756	739	26	2	867	2	GRB10	7	50683938	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	706750	50683938	108454725	534	91076											
LANCL2	55915	broad.mit.edu	37	chr7	55479657	55479657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaacccagtattgatTatgtgcgccacaaaaaattc	8	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:55479657T>C	uc003tqp.2	+	6	1461	c.883T>C	c.(883-885)TAT>CAT	p.Y295H		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	295					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			ovary(1)|skin(1)	2	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)			CAGTATTGATTATGTGCGCCA	0.448													C	55479657	T	C	55479657	3	2	166	1	0	0	0	0	1	0	0	0	8621	1754	61	3	905	3	LANCL2	7	55479657	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	4795719	55479657	103659006	535	91077											
ZNF713	349075	broad.mit.edu	37	chr7	55990944	55990944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagaacctctatcgagaCgtgatgctggagaactacag	10	9	1	4	rs147455939		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:55990944C>T	uc003trc.1	+	2	176	c.138C>T	c.(136-138)GAC>GAT	p.D46D	ZNF713_uc003tra.1_Silent_p.D59D|MRPS17_uc003trb.2_Silent_p.D46D	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTATCGAGACGTGATGCTGG	0.512													T	55990944	C	T	55990944	2	4	166	1	0	0	0	0	0	0	0	1	18114	535	19	1		1	ZNF713	7	55990944	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	511287	55990944	103147719	536	91078											
ASL	435	broad.mit.edu	37	chr7	65557802	65557802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgggactacgggcacaGtgtggagcagtatggtgccc	17	9	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:65557802G>T	uc003tuo.2	+	17	1409	c.1298G>T	c.(1297-1299)AGT>ATT	p.S433I	ASL_uc003tup.2_Missense_Mutation_p.S433I|ASL_uc003tur.2_Missense_Mutation_p.S407I|ASL_uc003tuq.2_Missense_Mutation_p.S413I	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	433					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	TACGGGCACAGTGTGGAGCAG	0.697													T	65557802	G	T	65557802	3	4	166	1	0	0	0	0	1	0	0	0	1044	1029	36	5	1360	5	ASL	7	65557802	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	9566858	65557802	93580861	537	91079											
WBSCR17	64409	broad.mit.edu	37	chr7	71130562	71130562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtctcatgtgtacatagCgtggaacctgccgctggagg	13	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:71130562C>T	uc003tvy.2	+	7	1247	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	WBSCR17_uc003tvz.2_Missense_Mutation_p.A115V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	416	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGTACATAGCGTGGAACCTG	0.463													T	71130562	C	T	71130562	3	4	166	1	0	0	0	0	1	0	0	0	17261	768	27	1	1273	1	WBSCR17	7	71130562	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5572760	71130562	88008101	538	91080											
MLXIPL	51085	broad.mit.edu	37	chr7	73010969	73010969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaacccctctctttacCgctgggcgctgggggtgaga	13	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:73010969C>T	uc003tyn.1	-	11	1870	c.1822G>A	c.(1822-1824)GGC>AGC	p.G608S	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.G608S|MLXIPL_uc003tyl.1_Missense_Mutation_p.G608S|MLXIPL_uc003tym.1_Missense_Mutation_p.G608S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.G514S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	608					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			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTCTCTTTACCGCTGGGCGCT	0.667													T	73010969	C	T	73010969	3	4	166	1	0	0	0	0	1	0	0	0	9637	666	23	1	764	1	MLXIPL	7	73010969	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1880407	73010969	86127694	539	91081											
CLDN4	1364	broad.mit.edu	37	chr7	73246063	73246063	+	Frame_Shift_Del	DEL	G	G	-													ccggcctgctgctccttggcGgggggctgctttgctgcaac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:73246062_73246062CG>C	uc003tzi.4	+	0	870	c.531_531CG>C	c.(529-531)ggcfs	p.G177fs	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	177					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)				TGCTCCTTGGCGGGGGGCTGC	0.637													-	73246063	G	-	73246063	7	5	166	1	0	1	0	1	0	0	0	0	3487	1116	39	0	534	0	CLDN4	7	73246063	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	235094	73246063	85892600	540	91082											
PCLO	27445	broad.mit.edu	37	chr7	82582682	82582682	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgttggtttggggtgTatatctgttggtttttgtgt	15	3	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:82582682T>C	uc003uhx.2	-	5	7876	c.7587A>G	c.(7585-7587)ATA>ATG	p.I2529M	PCLO_uc003uhv.2_Missense_Mutation_p.I2529M|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2460	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTTTGGGGTGTATATCTGTTG	0.448													C	82582682	T	C	82582682	3	2	166	1	0	0	0	0	1	0	0	0	11583	1628	57	3	7942	3	PCLO	7	82582682	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	9336619	82582682	76555981	541	91083											
PCLO	27445	broad.mit.edu	37	chr7	82583741	82583741	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaggtgtgtcagagggtggGacagatgtagcactttctga	16	5	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:82583741G>A	uc003uhx.2	-	5	6817	c.6528C>T	c.(6526-6528)GTC>GTT	p.V2176V	PCLO_uc003uhv.2_Silent_p.V2176V|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2107					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGAGGGTGGGACAGATGTAG	0.428													A	82583741	G	A	82583741	2	1	166	1	0	0	0	0	0	0	0	1	11583	1161	41	4		4	PCLO	7	82583741	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1059	82583741	76554922	542	91084											
SEMA3E	9723	broad.mit.edu	37	chr7	83029537	83029537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatagtccttggtggttccGtatctccctccatttacttt	8	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:83029537G>A	uc003uhy.1	-	11	1639	c.1173C>T	c.(1171-1173)TAC>TAT	p.Y391Y		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	391	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TGGTGGTTCCGTATCTCCCTC	0.388													A	83029537	G	A	83029537	2	1	166	1	0	0	0	0	0	0	0	1	14028	1140	40	1		1	SEMA3E	7	83029537	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	445796	83029537	76109126	543	91085											
COL1A2	1278	broad.mit.edu	37	chr7	94039080	94039080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctccctggaccccgcGgtattcctggccctgttggt	12	17	0	0	rs66612022		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:94039080G>A	uc003ung.1	+	19	1453	c.982G>A	c.(982-984)GGT>AGT	p.G328S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	328			G -> S (in OI1, OI3 AND OI4).		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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGACCCCGCGGTATTCCTGG	0.587										HNSCC(75;0.22)			A	94039080	G	A	94039080	3	1	166	1	0	0	0	0	1	0	0	0	3678	1116	39	1	1056	1	COL1A2	7	94039080	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	11009543	94039080	65099583	544	91086											
CUX1	1523	broad.mit.edu	37	chr7	101755048	101755048	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcataaggttcagagcctaCaaacaggtttgatactctcc	8	10	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:101755048C>T	uc003uyx.3	+	7	639	c.601C>T	c.(601-603)CAA>TAA	p.Q201*	CUX1_uc003uys.3_Nonsense_Mutation_p.Q212*|CUX1_uc003uyt.2_Nonsense_Mutation_p.Q212*|CUX1_uc011kkn.1_Nonsense_Mutation_p.Q175*|CUX1_uc003uyw.2_Nonsense_Mutation_p.Q166*|CUX1_uc003uyv.2_Nonsense_Mutation_p.Q196*|CUX1_uc003uyu.2_Nonsense_Mutation_p.Q212*	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	201	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TCAGAGCCTACAAACAGGTTT	0.562													T	101755048	C	T	101755048	4	4	166	1	0	0	0	0	0	1	0	0	4064	479	17	4	694	4	CUX1	7	101755048	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	7715968	101755048	57383615	545	91087											
LRRC17	10234	broad.mit.edu	37	chr7	102584993	102584994	+	Frame_Shift_Ins	INS	-	-	A													acagaagatgatgaatgggaINSaaaaaaacatagagatcaca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:102584992_102584993G>GA	uc003vau.3	+	3	1653_1654	c.1264_1265G>GA	c.(1264-1266)gaafs	p.E422fs	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	422					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						TGATGAATGGGAAAAAAAACAT	0.337													A	102584994	-	A	102584993	7	5	166	1	0	1	1	0	0	0	0	0	8973	246	9	0	1293	0	LRRC17	7	102584993	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	829945	102584993	56553670	546	91088											
ARMC10	83787	broad.mit.edu	37	chr7	102738782	102738782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccctttatgacagccacGtagcaaaggagattcttctt	7	10	2	2	rs142543653		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:102738782G>A	uc003vaw.1	+	7	1206	c.814G>A	c.(814-816)GTA>ATA	p.V272I	ARMC10_uc003vay.1_Missense_Mutation_p.V213I|ARMC10_uc003vax.1_Missense_Mutation_p.V237I|ARMC10_uc003vbb.1_Missense_Mutation_p.V178I|ARMC10_uc011kli.1_Missense_Mutation_p.V213I|ARMC10_uc010lis.1_Missense_Mutation_p.V154I|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.V150I	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	SVH protein isoform a	272					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			ovary(1)	1						TGACAGCCACGTAGCAAAGGA	0.328													A	102738782	G	A	102738782	3	1	166	1	0	0	0	0	1	0	0	0	950	1145	40	1	840	1	ARMC10	7	102738782	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	153789	102738782	56399881	547	91089											
RELN	5649	broad.mit.edu	37	chr7	103163896	103163896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtctatgcagccatcccCgatatagacattatctattg	6	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:103163896C>T	uc003vca.2	-	47	7592	c.7432G>A	c.(7432-7434)GGG>AGG	p.G2478R	RELN_uc010liz.2_Missense_Mutation_p.G2478R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2478	EGF-like 6.				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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCATCCCCGATATAGACA	0.473													T	103163896	C	T	103163896	3	4	166	1	0	0	0	0	1	0	0	0	13220	652	23	1	3026	1	RELN	7	103163896	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	425114	103163896	55974767	548	91090											
MLL5	55904	broad.mit.edu	37	chr7	104681433	104681433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccattgggggttgatacaGcagagacgtcatacttggaa	12	8	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:104681433G>A	uc003vcm.2	+	3	568	c.34G>A	c.(34-36)GCA>ACA	p.A12T	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.A12T|MLL5_uc003vcl.2_Missense_Mutation_p.A12T|MLL5_uc010ljc.2_Missense_Mutation_p.A12T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	12					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GGTTGATACAGCAGAGACGTC	0.408													A	104681433	G	A	104681433	3	1	166	1	0	0	0	0	1	0	0	0	9624	971	34	2	36	2	MLL5	7	104681433	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1517537	104681433	54457230	549	91091											
FOXP2	93986	broad.mit.edu	37	chr7	114304351	114304351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcagagagcagtttAcctttgctaagtaatcctgg	11	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:114304351A>G	uc003vhb.2	+	16	2237	c.1863A>G	c.(1861-1863)TTA>TTG	p.L621L	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.L646L|FOXP2_uc003vha.2_Silent_p.L529L|FOXP2_uc011kmu.1_Silent_p.L638L|FOXP2_uc011kmv.1_Silent_p.L620L|FOXP2_uc010ljz.1_Silent_p.L436L	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	621					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			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						AGAGCAGTTTACCTTTGCTAA	0.388													G	114304351	A	G	114304351	2	3	166	1	0	0	0	0	0	0	0	1	6027	388	14	3		3	FOXP2	7	114304351	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	9622918	114304351	44834312	550	91092											
RNF133	168433	broad.mit.edu	37	chr7	122338804	122338804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagactccagtctctcCcaactctgacaacacatgat	4	15	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:122338804C>T	uc003vkj.1	-	1	405	c.169G>A	c.(169-171)GGA>AGA	p.G57R	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	57						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						CCAGTCTCTCCCAACTCTGAC	0.423													T	122338804	C	T	122338804	3	4	166	1	0	0	0	0	1	0	0	0	13439	632	22	4	965	4	RNF133	7	122338804	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	8034453	122338804	36799859	551	91093											
GCC1	79571	broad.mit.edu	37	chr7	127224963	127224963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcggtcccagtgctatcctCgctgtgagtggagcaccggt	15	12	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:127224963C>T	uc003vma.2	-	1	692	c.274G>A	c.(274-276)GAG>AAG	p.E92K		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	92						Golgi membrane|plasma membrane	protein binding			ovary(2)	2						GTGCTATCCTCGCTGTGAGTG	0.612													T	127224963	C	T	127224963	3	4	166	1	0	0	0	0	1	0	0	0	6285	893	31	1	2061	1	GCC1	7	127224963	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4886159	127224963	31913700	552	91094											
SND1	27044	broad.mit.edu	37	chr7	127447556	127447556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggataagaacaagaaactgCgtcccctgtatgacattcct	8	10	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:127447556C>T	uc003vmi.2	+	11	1397	c.1171C>T	c.(1171-1173)CGT>TGT	p.R391C	SND1_uc010lle.2_Missense_Mutation_p.R44C	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	391	Nuclear localization signal (Potential).|TNase-like 3.				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			ovary(2)|central_nervous_system(1)	3						CAAGAAACTGCGTCCCCTGTA	0.358													T	127447556	C	T	127447556	3	4	166	1	0	0	0	0	1	0	0	0	14844	768	27	1	1213	1	SND1	7	127447556	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	222593	127447556	31691107	553	91095											
LRRC4	64101	broad.mit.edu	37	chr7	127670140	127670140	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagctccctcagagatatacTccagcttcttgagctccccc	6	16	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:127670140T>A	uc003vmk.2	-	2	691	c.554A>T	c.(553-555)GAG>GTG	p.E185V	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	185	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		AGAGATATACTCCAGCTTCTT	0.547													A	127670140	T	A	127670140	3	1	166	1	0	0	0	0	1	0	0	0	8997	1551	54	5	1411	5	LRRC4	7	127670140	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	222584	127670140	31468523	554	91096											
SMO	6608	broad.mit.edu	37	chr7	128845210	128845210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatgcacagctacatcgCggccttcggggccgtcacgg	14	14	1	0	rs142599757		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:128845210C>T	uc003vor.2	+	3	984	c.704C>T	c.(703-705)GCG>GTG	p.A235V	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	235	Helical; Name=1; (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						AGCTACATCGCGGCCTTCGGG	0.677			Mis		skin basal cell 								T	128845210	C	T	128845210	3	4	166	1	0	0	0	0	1	0	0	0	14800	768	27	1	714	1	SMO	7	128845210	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1175070	128845210	30293453	555	91097											
SMO	6608	broad.mit.edu	37	chr7	128845574	128845574	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcatggatggtgcccgcCgagagatcgtctgccgtgca	14	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:128845574C>T	uc003vor.2	+	4	1151	c.871C>T	c.(871-873)CGA>TGA	p.R291*	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	291	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						TGGTGCCCGCCGAGAGATCGT	0.577			Mis		skin basal cell 								T	128845574	C	T	128845574	4	4	166	1	0	0	0	0	0	1	0	0	14800	644	23	1	885	1	SMO	7	128845574	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	364	128845574	30293089	556	91098											
PLXNA4	91584	broad.mit.edu	37	chr7	132192529	132192530	+	Missense_Mutation	DNP	GC	GC	AA													aggtaggcagcctgcagcagGcggtactccaccccactgcg					rs149257060		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:132192529_132192530GC>AA	uc003vra.3	-	2	1152_1153	c.923_924GC>TT	c.(922-924)CGC>CTT	p.R308L	PLXNA4_uc003vrc.2_Missense_Mutation_p.R308L|PLXNA4_uc003vrb.2_Missense_Mutation_p.R308L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	308	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CCTGCAGCAGGCGGTACTCCAC	0.584													AA	132192530	GC	AA	132192529	3	1	166	1	0	0	0	0	1	0	0	0	12122	1190	42	2	5198	2	PLXNA4	7	132192529	Missense_Mutation	DNP	GC	TCGA-CG-4306-01A-01D-1158-08	3346955	132192529	26946134	557	91099											
CALD1	800	broad.mit.edu	37	chr7	134617839	134617839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcggcgtgaggaaagaCgccaaaaacgccttcaggag	14	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:134617839C>T	uc003vrz.2	+	5	778	c.319C>T	c.(319-321)CGC>TGC	p.R107C	CALD1_uc003vry.2_Missense_Mutation_p.R107C|CALD1_uc003vsa.2_Missense_Mutation_p.R107C|CALD1_uc003vsb.2_Missense_Mutation_p.R107C|CALD1_uc010lmm.2_Missense_Mutation_p.R107C|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Missense_Mutation_p.R101C|CALD1_uc003vsd.2_Missense_Mutation_p.R101C|CALD1_uc011kpu.1_Missense_Mutation_p.R112C|CALD1_uc011kpv.1_Translation_Start_Site|CALD1_uc003vse.2_Translation_Start_Site	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	107	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						TGAGGAAAGACGCCAAAAACG	0.552													T	134617839	C	T	134617839	3	4	166	1	0	0	0	0	1	0	0	0	2581	536	19	1	386	1	CALD1	7	134617839	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2425310	134617839	24520824	558	91100											
CALD1	800	broad.mit.edu	37	chr7	134635160	134635160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaggaagagattgaaagGcgaagagcagaagctgctga	14	5	0	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:134635160G>A	uc003vrz.2	+	9	2289	c.1830G>A	c.(1828-1830)AGG>AGA	p.R610R	CALD1_uc003vry.2_Silent_p.R355R|CALD1_uc003vsa.2_Silent_p.R381R|CALD1_uc003vsb.2_Silent_p.R355R|CALD1_uc010lmm.2_Silent_p.R381R|CALD1_uc011kpt.1_Silent_p.R129R|CALD1_uc003vsc.2_Silent_p.R375R|CALD1_uc003vsd.2_Silent_p.R349R|CALD1_uc011kpu.1_Silent_p.R360R|CALD1_uc011kpv.1_Silent_p.R219R|CALD1_uc003vse.2_Silent_p.R474R	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	610	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						AGATTGAAAGGCGAAGAGCAG	0.458													A	134635160	G	A	134635160	2	1	166	1	0	0	0	0	0	0	0	1	2581	1194	42	2		2	CALD1	7	134635160	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	17321	134635160	24503503	559	91101											
DENND2A	27147	broad.mit.edu	37	chr7	140285478	140285478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaccatgtaactcgaTgtcctcataagggttctcct	9	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:140285478T>C	uc010lnj.2	-	3	1301	c.1156A>G	c.(1156-1158)ATC>GTC	p.I386V	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.I386V|DENND2A_uc003vvw.2_Missense_Mutation_p.I386V|DENND2A_uc003vvx.2_Missense_Mutation_p.I386V	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	386										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TGTAACTCGATGTCCTCATAA	0.488													C	140285478	T	C	140285478	3	2	166	1	0	0	0	0	1	0	0	0	4429	1464	51	3	1937	3	DENND2A	7	140285478	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	5650318	140285478	18853185	560	91102											
SSBP1	6742	broad.mit.edu	37	chr7	141443711	141443711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgatttaggtgatgtcaGtcaaaagacaacatggcaca	9	6	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:141443711G>A	uc003vwo.1	+	5	314	c.236G>A	c.(235-237)AGT>AAT	p.S79N	SSBP1_uc011kri.1_Missense_Mutation_p.S79N|SSBP1_uc010lnp.1_Missense_Mutation_p.S79N	NM_003143	NP_003134	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1 precursor	79	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			ovary(1)	1	Melanoma(164;0.0171)					GGTGATGTCAGTCAAAAGACA	0.408													A	141443711	G	A	141443711	3	1	166	1	0	0	0	0	1	0	0	0	15178	1029	36	4	250	4	SSBP1	7	141443711	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1158233	141443711	17694952	561	91103											
TMEM139	135932	broad.mit.edu	37	chr7	142983891	142983891	+	Frame_Shift_Del	DEL	T	T	-													tcaccctgatgatgatagtgTtttttatgaggacaactggg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:142983890_142983890GT>G	uc003wcl.3	+	4	873	c.619_619GT>G	c.(619-621)gttfs	p.V207fs	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|CASP2_uc003wcq.3_5'Flank|TMEM139_uc022aoc.1_Frame_Shift_Del_p.V207fs|TMEM139_uc010lov.3_Frame_Shift_Del_p.V207fs|TMEM139_uc003wck.4_Frame_Shift_Del_p.V207fs|TMEM139_uc003wcn.3_Frame_Shift_Del_p.V64fs|TMEM139_uc022aod.1_Frame_Shift_Del_p.V64fs|TMEM139_uc003wcm.3_Frame_Shift_Del_p.V207fs	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	207						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGATGATAGTGTTTTTTATGA	0.502													-	142983891	T	-	142983891	7	5	166	1	0	1	0	1	0	0	0	0	16051	1725	60	0	626	0	TMEM139	7	142983891	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	1540180	142983891	16154772	562	91104											
NOBOX	135935	broad.mit.edu	37	chr7	144098304	144098304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggttgtgtgtggcacGggctgagttaggggcacccg	18	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:144098304G>A	uc011kue.1	-	4	679	c.679C>T	c.(679-681)CGT>TGT	p.R227C		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	227					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					TGTGTGGCACGGGCTGAGTTA	0.597													A	144098304	G	A	144098304	3	1	166	1	0	0	0	0	1	0	0	0	10512	1116	39	1	1328	1	NOBOX	7	144098304	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1114413	144098304	15040359	563	91105											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092805	147092805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaacttgtaaatttatacGaagtggcacaaaggaagccg	9	7	1	0	rs76475298	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:147092805G>A	uc003weu.1	+	10	2119	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	535	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			AAATTTATACGAAGTGGCACA	0.438										HNSCC(39;0.1)			A	147092805	G	A	147092805	3	1	166	1	0	0	0	0	1	0	0	0	3647	1059	37	1	1641	1	CNTNAP2	7	147092805	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2994501	147092805	12045858	564	91106											
ZNF777	27153	broad.mit.edu	37	chr7	149129019	149129019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgaagcgcttgccgcactCggcgcagtggtagggccgct	16	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:149129019C>T	uc003wfv.2	-	6	2507	c.2344G>A	c.(2344-2346)GAG>AAG	p.E782K		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTGCCGCACTCGGCGCAGTGG	0.692													T	149129019	C	T	149129019	3	4	166	1	0	0	0	0	1	0	0	0	18147	893	31	1	155	1	ZNF777	7	149129019	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2036214	149129019	10009644	565	91107											
ZNF777	27153	broad.mit.edu	37	chr7	149129035	149129035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcggcgcagtggtagggCcgctcgcctgtgtggatgcg	17	12	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:149129035C>T	uc003wfv.2	-	6	2491	c.2328G>A	c.(2326-2328)CGG>CGA	p.R776R		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGTGGTAGGGCCGCTCGCCTG	0.706													T	149129035	C	T	149129035	2	4	166	1	0	0	0	0	0	0	0	1	18147	726	26	2		2	ZNF777	7	149129035	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	16	149129035	10009628	566	91108											
ABP1	26	broad.mit.edu	37	chr7	150558259	150558259	+	Frame_Shift_Del	DEL	C	C	-													acagggactgctcgatgcctCccccttttagctacaatggg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150558258_150558258TC>T	uc003why.1	+	5	6435	c.2217_2217TC>T	c.(2215-2217)cctfs	p.P739fs	ABP1_uc003whz.1_Frame_Shift_Del_p.P739fs|ABP1_uc003wia.1_Frame_Shift_Del_p.P758fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	739					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCTCGATGCCTCCCCCTTTTA	0.622													-	150558259	C	-	150558259	7	5	166	1	0	1	0	1	0	0	0	0	98	855	30	0	2232	0	ABP1	7	150558259	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	1429224	150558259	8580404	567	91109											
ABCB8	11194	broad.mit.edu	37	chr7	150732996	150732996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaatgggcgtagcagacGaggccctgggcaatgtgcgg	19	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150732996G>A	uc003wil.3	+	8	1099	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	ABCB8_uc003wii.2_Missense_Mutation_p.E356K|ABCB8_uc003wij.3_Missense_Mutation_p.E319K|ABCB8_uc010lpw.1_Missense_Mutation_p.R184Q|ABCB8_uc010lpx.2_Missense_Mutation_p.E319K|ABCB8_uc011kvd.1_Missense_Mutation_p.E231K|ABCB8_uc003wim.3_Missense_Mutation_p.E114K|ABCB8_uc003wik.3_Missense_Mutation_p.E319K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	336	ABC transmembrane type-1.					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(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTAGCAGACGAGGCCCTGGG	0.617													A	150732996	G	A	150732996	3	1	166	1	0	0	0	0	1	0	0	0	47	1059	37	1	981	1	ABCB8	7	150732996	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	174737	150732996	8405667	568	91110											
CDK5	1020	broad.mit.edu	37	chr7	150751541	150751541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactgctcctcggtgggcGtccccagcagtgtgtccacg	13	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150751541G>A	uc003wir.1	-	10	723	c.662C>T	c.(661-663)ACG>ATG	p.T221M		NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	221	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			lung(1)|central_nervous_system(1)	2		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)		CTCGGTGGGCGTCCCCAGCAG	0.597													A	150751541	G	A	150751541	3	1	166	1	0	0	0	0	1	0	0	0	3142	1145	40	1	228	1	CDK5	7	150751541	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	18545	150751541	8387122	569	91111											
SLC4A2	6522	broad.mit.edu	37	chr7	150771346	150771346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcgccttcttcctgcGcaaattcaagaacagccggt	7	14	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150771346G>A	uc003wit.3	+	17	3012	c.2756G>A	c.(2755-2757)CGC>CAC	p.R919H	SLC4A2_uc011kve.1_Missense_Mutation_p.R910H|SLC4A2_uc003wiu.3_Missense_Mutation_p.R905H|SLC4A2_uc003wiv.3_Missense_Mutation_p.R113H	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	919	Membrane (anion exchange).|Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTTCCTGCGCAAATTCAAG	0.652													A	150771346	G	A	150771346	3	1	166	1	0	0	0	0	1	0	0	0	14654	1087	38	1	2818	1	SLC4A2	7	150771346	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	19805	150771346	8367317	570	91112											
MLL3	58508	broad.mit.edu	37	chr7	151856009	151856010	+	Frame_Shift_Ins	INS	-	-	T													ttgtttctcctcttcgtcctINSttttccttttctttgagcga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:151856008_151856009C>CT	uc003wla.3	-	43	11828_11829	c.11609_11610G>AG	c.(11608-11610)aagfs	p.K3870fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.K2931fs|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Frame_Shift_Ins_p.K1379fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3870					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTCTTCGTCCTTTTTCCTTTT	0.455			N		medulloblastoma								T	151856010	-	T	151856009	7	5	166	1	0	1	1	0	0	0	0	0	9622	1609	56	0	3190	0	MLL3	7	151856009	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1084663	151856009	7282654	571	91113											
MLL3	58508	broad.mit.edu	37	chr7	151874701	151874702	+	Frame_Shift_Ins	INS	-	-	G													agctgattaggtagaccctgINSgggaggtcgtcgcatggggt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:151874700_151874701T>TG	uc003wla.3	-	37	8056_8057	c.7837_7838A>CA	c.(7837-7839)cagfs	p.Q2613fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.Q1674fs|MLL3_uc003wky.3_Frame_Shift_Ins_p.Q122fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2613	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGTAGACCCTGGGGAGGTCGT	0.515			N		medulloblastoma								G	151874702	-	G	151874701	7	5	166	1	0	1	1	0	0	0	0	0	9622	1357	47	0	6986	0	MLL3	7	151874701	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	18692	151874701	7263962	572	91114											
MLL3	58508	broad.mit.edu	37	chr7	151879075	151879075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataggggtcattatttgtcGtggaagaagaacataaatct	10	5	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:151879075G>A	uc003wla.2	-	36	6089	c.5870C>T	c.(5869-5871)ACG>ATG	p.T1957M	MLL3_uc003wkz.2_Missense_Mutation_p.T1018M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1957	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTATTTGTCGTGGAAGAAGA	0.453			N		medulloblastoma								A	151879075	G	A	151879075	3	1	166	1	0	0	0	0	1	0	0	0	9622	1145	40	1	8961	1	MLL3	7	151879075	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4374	151879075	7259588	573	91115											
CNPY1	285888	broad.mit.edu	37	chr7	155301590	155301590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaggaagagagcttaccGcaaatttcaaaggtctgtaa	10	7	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:155301590G>A	uc003wmc.1	-	2	288	c.143C>T	c.(142-144)GCG>GTG	p.A48V		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	canopy 1 homolog	48											0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGAGCTTACCGCAAATTTCAA	0.343													A	155301590	G	A	155301590	3	1	166	1	0	0	0	0	1	0	0	0	3627	1101	38	1	147	1	CNPY1	7	155301590	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3422515	155301590	3837073	574	91116											
RBM33	155435	broad.mit.edu	37	chr7	155503962	155503962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaagcctgttccagccGcagccgctgcagccgctgct	11	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:155503962G>A	uc010lqk.1	+	8	1382	c.1014G>A	c.(1012-1014)CCG>CCA	p.P338P	RBM33_uc011kvv.1_Silent_p.P147P	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	338	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	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)		TGTTCCAGCCGCAGCCGCTGC	0.642													A	155503962	G	A	155503962	2	1	166	1	0	0	0	0	0	0	0	1	13130	1074	38	1		1	RBM33	7	155503962	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	202372	155503962	3634701	575	91117											
FBXO25	26260	broad.mit.edu	37	chr8	418731	418731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggactcaggacacccctGcacggcggccgaccctgaca	11	17	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:418731G>A	uc003wox.2	+	11	1297	c.1031G>A	c.(1030-1032)TGC>TAC	p.C344Y	FBXO25_uc003woy.2_Missense_Mutation_p.C335Y|FBXO25_uc003woz.2_Missense_Mutation_p.C268Y|FBXO25_uc003wpa.2_Missense_Mutation_p.C118Y	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	344						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		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)		GGACACCCCTGCACGGCGGCC	0.617													A	418731	G	A	418731	3	1	166	1	0	0	0	0	1	0	0	0	5736	1319	46	2	1069	2	FBXO25	8	418731	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08		418731	145945291	576	91118											
MYOM2	9172	broad.mit.edu	37	chr8	2041865	2041865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcggtcaatgctgtggGgatgagtgaaaattcccagg	15	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:2041865G>A	uc003wpx.3	+	17	2210	c.2072G>A	c.(2071-2073)GGG>GAG	p.G691E	MYOM2_uc011kwi.1_Missense_Mutation_p.G116E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	691	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		AATGCTGTGGGGATGAGTGAA	0.527													A	2041865	G	A	2041865	3	1	166	1	0	0	0	0	1	0	0	0	10092	1232	43	4	2134	4	MYOM2	8	2041865	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1623134	2041865	144322157	577	91119											
RP1L1	94137	broad.mit.edu	37	chr8	10468839	10468839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaaggtcttctcctcGgacagcccccgagaccccgc	8	20	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:10468839G>A	uc003wtc.2	-	4	2998	c.2769C>T	c.(2767-2769)TCC>TCT	p.S923S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	923					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCTTCTCCTCGGACAGCCCCC	0.697													A	10468839	G	A	10468839	2	1	166	1	0	0	0	0	0	0	0	1	13533	1103	39	1		1	RP1L1	8	10468839	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	8426974	10468839	135895183	578	91120											
RP1L1	94137	broad.mit.edu	37	chr8	10470600	10470600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccgggaccataggagCgtgtcctcgccgaccaggtg	13	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:10470600C>T	uc003wtc.2	-	4	1237	c.1008G>A	c.(1006-1008)ACG>ACA	p.T336T		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	336					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ACCATAGGAGCGTGTCCTCGC	0.642													T	10470600	C	T	10470600	2	4	166	1	0	0	0	0	0	0	0	1	13533	755	27	1		1	RP1L1	8	10470600	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1761	10470600	135893422	579	91121											
NEIL2	252969	broad.mit.edu	37	chr8	11637219	11637219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagaaggaaggggctgCggacccaaagcaggtcgggg	19	8	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:11637219C>T	uc003wug.2	+	3	926	c.251C>T	c.(250-252)GCG>GTG	p.A84V	NEIL2_uc003wue.2_Missense_Mutation_p.A84V|NEIL2_uc003wuf.2_Missense_Mutation_p.A23V|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	84					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GAAGGGGCTGCGGACCCAAAG	0.557								BER_DNA_glycosylases					T	11637219	C	T	11637219	3	4	166	1	0	0	0	0	1	0	0	0	10319	768	27	1	262	1	NEIL2	8	11637219	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1166619	11637219	134726803	580	91122											
NEIL2	252969	broad.mit.edu	37	chr8	11643696	11643696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaggaggcgtttgggcccGaagatgggttacagaggctc	17	7	0	3	rs139505292	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:11643696G>A	uc003wug.2	+	5	1588	c.913G>A	c.(913-915)GAA>AAA	p.E305K	NEIL2_uc003wue.2_Missense_Mutation_p.E305K|NEIL2_uc003wuf.2_Missense_Mutation_p.E244K|NEIL2_uc011kxd.1_Missense_Mutation_p.E189K	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	305	FPG-type.				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GTTTGGGCCCGAAGATGGGTT	0.612								BER_DNA_glycosylases					A	11643696	G	A	11643696	3	1	166	1	0	0	0	0	1	0	0	0	10319	1059	37	1	932	1	NEIL2	8	11643696	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6477	11643696	134720326	581	91123											
LONRF1	91694	broad.mit.edu	37	chr8	12586437	12586437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccagatattcaatgtcGgcagtgcaatatccatcttt	6	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:12586437G>A	uc003wwd.1	-	10	2046	c.1983C>T	c.(1981-1983)GCC>GCT	p.A661A	LONRF1_uc011kxv.1_Silent_p.A250A|LONRF1_uc010lsp.1_Silent_p.A261A	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	661	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		ATTCAATGTCGGCAGTGCAAT	0.423													A	12586437	G	A	12586437	2	1	166	1	0	0	0	0	0	0	0	1	8894	1103	39	1		1	LONRF1	8	12586437	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	942741	12586437	133777585	582	91124											
GFRA2	2675	broad.mit.edu	37	chr8	21608381	21608381	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcttcttgcagttgtcAttcaggttgcaggccttggc	12	11	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:21608381A>G	uc003wzu.1	-	4	1188	c.513T>C	c.(511-513)AAT>AAC	p.N171N	GFRA2_uc003wzv.1_Silent_p.N66N|GFRA2_uc003wzw.1_Silent_p.N38N|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	171						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGCAGTTGTCATTCAGGTTGC	0.617													G	21608381	A	G	21608381	2	3	166	1	0	0	0	0	0	0	0	1	6348	214	8	3		3	GFRA2	8	21608381	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	9021944	21608381	124755641	583	91125											
XPO7	23039	broad.mit.edu	37	chr8	21853019	21853019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatatccatcctatatgCcaattctccaacgggcaatt	5	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:21853019C>T	uc003xaa.3	+	21	2356	c.2254C>T	c.(2254-2256)CCA>TCA	p.P752S	XPO7_uc010lti.2_Missense_Mutation_p.P761S|XPO7_uc010ltk.2_Missense_Mutation_p.P753S	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	752					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATCCTATATGCCAATTCTCCA	0.398													T	21853019	C	T	21853019	3	4	166	1	0	0	0	0	1	0	0	0	17446	739	26	2	2388	2	XPO7	8	21853019	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	244638	21853019	124511003	584	91126											
HR	55806	broad.mit.edu	37	chr8	21984985	21984985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatgaacagcagccccGctgggtgacaggcggctcag	16	11	1	2	rs143170974	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:21984985G>A	uc003xas.2	-	3	1635	c.970C>T	c.(970-972)CGG>TGG	p.R324W	HR_uc003xat.2_Missense_Mutation_p.R324W	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	324							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAGCAGCCCCGCTGGGTGACA	0.667													A	21984985	G	A	21984985	3	1	166	1	0	0	0	0	1	0	0	0	7347	1086	38	1	2667	1	HR	8	21984985	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	131966	21984985	124379037	585	91127											
ADAM28	10863	broad.mit.edu	37	chr8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A													aattgcagtgctttatttgaINSaaaaaaacaagtaagtatct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													A	24167474	-	A	24167473	7	5	166	1	0	1	1	0	0	0	0	0	246	247	9	0	227	0	ADAM28	8	24167473	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2182488	24167473	122196549	586	91128											
STMN4	81551	broad.mit.edu	37	chr8	27097669	27097669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtgtttcaggagctccGcttcctggtactggggaagc	14	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:27097669G>A	uc003xfk.2	-	5	443	c.329C>T	c.(328-330)GCG>GTG	p.A110V	STMN4_uc003xfj.2_Missense_Mutation_p.A137V|STMN4_uc011lai.1_Missense_Mutation_p.A137V|STMN4_uc011laj.1_Missense_Mutation_p.A101V|STMN4_uc011lak.1_Missense_Mutation_p.A137V|STMN4_uc010luo.2_Missense_Mutation_p.A110V			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	110	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CAGGAGCTCCGCTTCCTGGTA	0.493													A	27097669	G	A	27097669	3	1	166	1	0	0	0	0	1	0	0	0	15310	1087	38	1	248	1	STMN4	8	27097669	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2930196	27097669	119266353	587	91129											
SCARA3	51435	broad.mit.edu	37	chr8	27516059	27516059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccatgaagctgggcaGctggggccagagatccgaaa	14	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:27516059G>T	uc003xga.1	+	5	513	c.372G>T	c.(370-372)CAG>CAT	p.Q124H	SCARA3_uc003xgb.1_Missense_Mutation_p.Q124H	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	124	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AAGCTGGGCAGCTGGGGCCAG	0.567													T	27516059	G	T	27516059	3	4	166	1	0	0	0	0	1	0	0	0	13879	962	34	5	390	5	SCARA3	8	27516059	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	418390	27516059	118847963	588	91130											
INTS9	55756	broad.mit.edu	37	chr8	28633400	28633400	+	Frame_Shift_Del	DEL	G	G	-													ccatcctgtgggactgggctGggggcggctgagtgtactgc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:28633399_28633399TG>T	uc003xha.3	-	13	1739	c.1440_1440CA>A	c.(1438-1440)ccafs	p.P480fs	INTS9_uc011lav.2_Frame_Shift_Del_p.P456fs|INTS9_uc011law.2_Frame_Shift_Del_p.P459fs|INTS9_uc011lax.2_Frame_Shift_Del_p.P373fs|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	480					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)		GGGACTGGGCTGGGGGCGGCT	0.622													-	28633400	G	-	28633400	7	5	166	1	0	1	0	1	0	0	0	0	7785	1348	47	0	553	0	INTS9	8	28633400	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	1117341	28633400	117730622	589	91131											
KCNU1	157855	broad.mit.edu	37	chr8	36721991	36721991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatcagggcaggattctcCgccaagggtatctgcaagca	11	10	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:36721991C>T	uc010lvw.2	+	19	2048	c.1961C>T	c.(1960-1962)CCG>CTG	p.P654L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	654	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGGATTCTCCGCCAAGGGTA	0.448													T	36721991	C	T	36721991	3	4	166	1	0	0	0	0	1	0	0	0	8093	652	23	1	2035	1	KCNU1	8	36721991	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	8088591	36721991	109642031	590	91132											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729675	37729675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggaggaggaggtgatccGctggggaggctggcgcacca	21	8	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:37729675G>A	uc003xkm.1	-	4	2689	c.2645C>T	c.(2644-2646)GCG>GTG	p.A882V	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A211V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A211V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	882					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGGTGATCCGCTGGGGAGGC	0.607													A	37729675	G	A	37729675	3	1	166	1	0	0	0	0	1	0	0	0	12893	1087	38	1	1218	1	RAB11FIP1	8	37729675	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1007684	37729675	108634347	591	91133											
PLAT	5327	broad.mit.edu	37	chr8	42033662	42033662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacacaccagggggcctcccGaatcgccctgcaaaggagat	12	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:42033662G>A	uc003xos.2	-	14	1747	c.1538C>T	c.(1537-1539)TCG>TTG	p.S513L	PLAT_uc010lxf.1_Missense_Mutation_p.S430L|PLAT_uc010lxg.1_Missense_Mutation_p.S338L|PLAT_uc003xot.2_Missense_Mutation_p.S467L|PLAT_uc011lcm.1_Missense_Mutation_p.S424L|PLAT_uc011lcn.1_Missense_Mutation_p.S387L	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	513	Peptidase S1.	Charge relay system.			blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGGGCCTCCCGAATCGCCCTG	0.522													A	42033662	G	A	42033662	3	1	166	1	0	0	0	0	1	0	0	0	12021	1059	37	1	154	1	PLAT	8	42033662	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4303987	42033662	104330360	592	91134											
VDAC3	7419	broad.mit.edu	37	chr8	42252652	42252652	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtcttgtagtggagtgGtgagtatctaatatattttt	10	4	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:42252652G>A	uc011lct.1	+	4	260	c.117_splice	c.e4+1	p.V39_splice	VDAC3_uc010lxk.2_Splice_Site_p.V39_splice|VDAC3_uc003xpc.2_Splice_Site_p.V39_splice	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b						adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|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;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TAGTGGAGTGGTGAGTATCTA	0.348													A	42252652	G	A	42252652	5	1	166	1	0	0	0	0	0	0	1	0	17145	1275	44	4	124	4	VDAC3	8	42252652	Splice_Site	SNP	G	TCGA-CG-4306-01A-01D-1158-08	218990	42252652	104111370	593	91135											
ST18	9705	broad.mit.edu	37	chr8	53092689	53092689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttgctacctgcggtAgagtgaccatgtgtttccaa	9	12	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:53092689A>G	uc003xqz.2	-	4	426	c.270T>C	c.(268-270)TCT>TCC	p.S90S	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.S55S|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.S90S|ST18_uc003xrb.2_Silent_p.S90S|ST18_uc010lyb.2_RNA	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	90						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TACCTGCGGTAGAGTGACCAT	0.517													G	53092689	A	G	53092689	2	3	166	1	0	0	0	0	0	0	0	1	15211	407	15	3		3	ST18	8	53092689	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	10840037	53092689	93271333	594	91136											
NPBWR1	2831	broad.mit.edu	37	chr8	53852517	53852517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgccaacgcatcgggccCggacccggcgctgagctgct	14	18	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:53852517C>T	uc011ldu.1	+	1	50	c.50C>T	c.(49-51)CCG>CTG	p.P17L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	17	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCATCGGGCCCGGACCCGGCG	0.711													T	53852517	C	T	53852517	3	4	166	1	0	0	0	0	1	0	0	0	10568	652	23	1	52	1	NPBWR1	8	53852517	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	759828	53852517	92511505	595	91137											
CHD7	55636	broad.mit.edu	37	chr8	61754314	61754314	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgccttaaatgggaggGtgagtaagaagtcccattcg	13	6	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:61754314G>A	uc003xue.2	+	20	5121	c.4644_splice	c.e20+1	p.R1548_splice		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7						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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			AAATGGGAGGGTGAGTAAGAA	0.393													A	61754314	G	A	61754314	5	1	166	1	0	0	0	0	0	0	1	0	3330	1275	44	4	4719	4	CHD7	8	61754314	Splice_Site	SNP	G	TCGA-CG-4306-01A-01D-1158-08	7901797	61754314	84609708	596	91138											
CHD7	55636	broad.mit.edu	37	chr8	61764678	61764678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattactgcctatcagcgCagctataaaaggcaacagat	7	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:61764678C>T	uc003xue.2	+	29	6243	c.5766C>T	c.(5764-5766)CGC>CGT	p.R1922R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1922					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			CCTATCAGCGCAGCTATAAAA	0.547													T	61764678	C	T	61764678	2	4	166	1	0	0	0	0	0	0	0	1	3330	697	25	2		2	CHD7	8	61764678	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	10364	61764678	84599344	597	91139											
TRIM55	84675	broad.mit.edu	37	chr8	67064641	67064641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagaagaagaagaaggcGgagaaggagaaaaagaagga	16	1	0	8			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:67064641G>A	uc003xvv.2	+	8	1241	c.1015G>A	c.(1015-1017)GGA>AGA	p.G339R	TRIM55_uc003xvu.2_Missense_Mutation_p.G339R|TRIM55_uc003xvw.2_Missense_Mutation_p.G339R|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	339						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		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)			agaagaaggcggagaaggaga	0.199													A	67064641	G	A	67064641	3	1	166	1	0	0	0	0	1	0	0	0	16526	1117	39	1	1045	1	TRIM55	8	67064641	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5299963	67064641	79299381	598	91140											
NCOA2	10499	broad.mit.edu	37	chr8	71041179	71041179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagcatgatgttggaatCctgacttgagaactgttctg	10	9	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:71041179C>T	uc003xyn.1	-	17	3523	c.3361G>A	c.(3361-3363)GAT>AAT	p.D1121N	NCOA2_uc011lfb.1_Missense_Mutation_p.D209N	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1121					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGTTGGAATCCTGACTTGAG	0.448			T	RUNXBP2	AML								T	71041179	C	T	71041179	3	4	166	1	0	0	0	0	1	0	0	0	10229	855	30	4	1061	4	NCOA2	8	71041179	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3976538	71041179	75322843	599	91141											
KCNB2	9312	broad.mit.edu	37	chr8	73849334	73849334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatggaagaagtggtgtgtCcacaggagcagctggccgtg	16	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:73849334C>T	uc003xzb.2	+	3	2332	c.1744C>T	c.(1744-1746)CCA>TCA	p.P582S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	582	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AGTGGTGTGTCCACAGGAGCA	0.532													T	73849334	C	T	73849334	3	4	166	1	0	0	0	0	1	0	0	0	8013	855	30	4	1750	4	KCNB2	8	73849334	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2808155	73849334	72514688	600	91142											
PEX2	5828	broad.mit.edu	37	chr8	77896329	77896329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaccaaactagctgctccAgggccttgtttagttcaagt	11	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:77896329A>G	uc003yax.2	-	4	544	c.86T>C	c.(85-87)CTG>CCG	p.L29P	PEX2_uc003yay.2_Missense_Mutation_p.L29P|PEX2_uc003yaz.2_Missense_Mutation_p.L29P	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	29					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						TAGCTGCTCCAGGGCCTTGTT	0.468													G	77896329	A	G	77896329	3	3	166	1	0	0	0	0	1	0	0	0	11745	188	7	3	835	3	PEX2	8	77896329	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	4046995	77896329	68467693	601	91143											
IMPA1	3612	broad.mit.edu	37	chr8	82572840	82572840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcccatttcataatatGcatctgctccgccagttgcc	6	13	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:82572840G>A	uc003ych.2	-	8	756	c.629C>T	c.(628-630)GCA>GTA	p.A210V	IMPA1_uc011lfq.1_Missense_Mutation_p.A269V|IMPA1_uc011lfr.1_Missense_Mutation_p.H174Y	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	210					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	TTCATAATATGCATCTGCTCC	0.403													A	82572840	G	A	82572840	3	1	166	1	0	0	0	0	1	0	0	0	7722	1319	46	2	212	2	IMPA1	8	82572840	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4676511	82572840	63791182	602	91144											
NBN	4683	broad.mit.edu	37	chr8	90967518	90967518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaaacagaccttttttTggtagacggctgaaagtagt	9	6	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:90967518T>C	uc003yej.1	-	10	1500	c.1390A>G	c.(1390-1392)AAA>GAA	p.K464E	NBN_uc003yei.1_Missense_Mutation_p.K382E|NBN_uc011lgb.1_Missense_Mutation_p.K464E	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	464	Nuclear localization signal.				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			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GACCTTTTTTTGGTAGACGGC	0.348								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				C	90967518	T	C	90967518	3	2	166	1	0	0	0	0	1	0	0	0	10191	1821	63	3	902	3	NBN	8	90967518	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	8394678	90967518	55396504	603	91145											
KIAA1429	25962	broad.mit.edu	37	chr8	95539535	95539535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatacttaaatgtttcacGttccaagtcagcaattccat	6	9	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:95539535G>A	uc003ygo.1	-	8	950	c.937C>T	c.(937-939)CGT>TGT	p.R313C	KIAA1429_uc003ygp.2_Missense_Mutation_p.R313C|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	313	Glu-rich.				mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AATGTTTCACGTTCCAAGTCA	0.348													A	95539535	G	A	95539535	3	1	166	1	0	0	0	0	1	0	0	0	8231	1145	40	1	4623	1	KIAA1429	8	95539535	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4572017	95539535	50824487	604	91146											
DPY19L4	286148	broad.mit.edu	37	chr8	95796029	95796029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcaagagaaatgaaaAtgtaagacattttaaattct	5	5	3	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:95796029A>G	uc003ygx.2	+	17	1971	c.1847A>G	c.(1846-1848)AAT>AGT	p.N616S		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	616						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					AGAAATGAAAATGTAAGACAT	0.368													G	95796029	A	G	95796029	3	3	166	1	0	0	0	0	1	0	0	0	4743	115	4	3	1913	3	DPY19L4	8	95796029	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	256494	95796029	50567993	605	91147											
SDC2	6383	broad.mit.edu	37	chr8	97620628	97620628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggaaaatggacccagcCgaagaggatacaaatgtgta	12	6	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:97620628C>T	uc003yhv.1	+	4	990	c.372C>T	c.(370-372)GCC>GCT	p.A124A	SDC2_uc011lgu.1_Silent_p.A95A	NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	124	Extracellular (Potential).					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)	TGGACCCAGCCGAAGAGGATA	0.453													T	97620628	C	T	97620628	2	4	166	1	0	0	0	0	0	0	0	1	13952	639	23	1		1	SDC2	8	97620628	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1824599	97620628	48743394	606	91148											
MTDH	92140	broad.mit.edu	37	chr8	98699707	98699707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacgacagcagcgtaaaCgtgataaggtgctgactgat	12	7	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:98699707C>T	uc003yhz.2	+	4	947	c.619C>T	c.(619-621)CGT>TGT	p.R207C		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	207	Cytoplasmic (Potential).				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			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GCAGCGTAAACGTGATAAGGT	0.418													T	98699707	C	T	98699707	3	4	166	1	0	0	0	0	1	0	0	0	9917	536	19	1	633	1	MTDH	8	98699707	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1079079	98699707	47664315	607	91149											
VPS13B	157680	broad.mit.edu	37	chr8	100866034	100866034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaagagttggaagaatacAaggaaaaatgttttatcaaa	8	3	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:100866034A>G	uc003yiv.2	+	56	10603	c.10492A>G	c.(10492-10494)AAG>GAG	p.K3498E	VPS13B_uc003yiw.2_Missense_Mutation_p.K3473E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3498					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAAGAATACAAGGAAAAATG	0.393													G	100866034	A	G	100866034	3	3	166	1	0	0	0	0	1	0	0	0	17187	131	5	3	10904	3	VPS13B	8	100866034	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	2166327	100866034	45497988	608	91150											
LRP12	29967	broad.mit.edu	37	chr8	105509306	105509306	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacggcagcagtgatgactcTtgtaggcacgattactgggc	14	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:105509306T>A	uc003yma.2	-	5	1569	c.1474A>T	c.(1474-1476)AGA>TGA	p.R492*	LRP12_uc003ymb.2_Nonsense_Mutation_p.R473*|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	492	Extracellular (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTGATGACTCTTGTAGGCACG	0.438													A	105509306	T	A	105509306	4	1	166	1	0	0	0	0	0	1	0	0	8954	1617	56	5	1117	5	LRP12	8	105509306	Nonsense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	4643272	105509306	40854716	609	91151											
CSMD3	114788	broad.mit.edu	37	chr8	113668504	113668504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccattgtaagatccaagCaagggtgacagaagatttgg	13	6	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:113668504C>T	uc003ynu.2	-	18	3042	c.2883G>A	c.(2881-2883)TTG>TTA	p.L961L	CSMD3_uc003yns.2_Silent_p.L233L|CSMD3_uc003ynt.2_Silent_p.L921L|CSMD3_uc011lhx.1_Silent_p.L857L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	961	Extracellular (Potential).|CUB 5.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAGATCCAAGCAAGGGTGACA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113668504	C	T	113668504	2	4	166	1	0	0	0	0	0	0	0	1	3946	709	25	2		2	CSMD3	8	113668504	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	8159198	113668504	32695518	610	91152											
SLC45A4	57210	broad.mit.edu	37	chr8	142228905	142228905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggaaggcagggacgccGtgcggctcgcccccatccag	15	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:142228905G>A	uc003ywd.1	-	4	989	c.681C>T	c.(679-681)CAC>CAT	p.H227H	SLC45A4_uc003ywc.1_Silent_p.H227H|SLC45A4_uc010meq.1_Silent_p.H225H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	278					transport	integral to membrane				ovary(2)	2	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)			CAGGGACGCCGTGCGGCTCGC	0.682													A	142228905	G	A	142228905	2	1	166	1	0	0	0	0	0	0	0	1	14643	1136	40	1		1	SLC45A4	8	142228905	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	28560401	142228905	4135117	611	91153											
FLJ43860	389690	broad.mit.edu	37	chr8	142445309	142445309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgcagtagccgccagCggagcagcacagcacagcgg	17	12	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:142445309C>T	uc003ywi.2	-	29	3677	c.3596G>A	c.(3595-3597)CGC>CAC	p.R1199H	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1199							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			TAGCCGCCAGCGGAGCAGCAC	0.662													T	142445309	C	T	142445309	3	4	166	1	0	0	0	0	1	0	0	0	5930	768	27	1	376	1	FLJ43860	8	142445309	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	216404	142445309	3918713	612	91154											
FLJ43860	389690	broad.mit.edu	37	chr8	142506590	142506591	+	Frame_Shift_Ins	INS	-	-	G													cttcatggatgtggagacagINSggggggagattctgaaatgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:142506589_142506590A>AG	uc003ywi.2	-	1	173_174	c.92_93T>CT	c.(91-93)cctfs	p.P31fs	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	31							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			ATGTGGAGACAGGGGGGGAGAT	0.554													G	142506591	-	G	142506590	7	5	166	1	0	1	1	0	0	0	0	0	5930	1000	35	0	3980	0	FLJ43860	8	142506590	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	61281	142506590	3857432	613	91155											
BAI1	575	broad.mit.edu	37	chr8	143570403	143570403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttcttccagaggccgaTgaagcatccgtgtttgtggt	11	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:143570403T>C	uc003ywm.2	+	14	2643	c.2460T>C	c.(2458-2460)GAT>GAC	p.D820D		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	820	Extracellular (Potential).				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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					CAGAGGCCGATGAAGCATCCG	0.662													C	143570403	T	C	143570403	2	2	166	1	0	0	0	0	0	0	0	1	1298	1461	51	3		3	BAI1	8	143570403	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1063813	143570403	2793619	614	91156											
MAPK15	225689	broad.mit.edu	37	chr8	144804001	144804001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaccaggccctgatccGgggtgactggaaccggggcg	17	13	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:144804001G>A	uc003yzj.2	+	13	1450	c.1409G>A	c.(1408-1410)CGG>CAG	p.R470Q		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	470					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	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)			GCCCTGATCCGGGGTGACTGG	0.582													A	144804001	G	A	144804001	3	1	166	1	0	0	0	0	1	0	0	0	9277	1116	39	1	1459	1	MAPK15	8	144804001	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1233598	144804001	1560021	615	91157											
EPPK1	83481	broad.mit.edu	37	chr8	144945705	144945705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgatgatctcggctttcaGcagctctcctggtgtcacgg	12	12	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:144945705G>T	uc003zaa.1	-	1	1730	c.1717C>A	c.(1717-1719)CTG>ATG	p.L573M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	573	Plectin 10.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			TCGGCTTTCAGCAGCTCTCCT	0.637													T	144945705	G	T	144945705	3	4	166	1	0	0	0	0	1	0	0	0	5190	962	34	5	5549	5	EPPK1	8	144945705	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	141704	144945705	1418317	616	91158											
SMARCA2	6595	broad.mit.edu	37	chr9	2110275	2110275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccaagtctgaagatcGtgctgctttgctgaagaaat	9	10	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:2110275G>A	uc003zhc.2	+	24	3413	c.3314G>A	c.(3313-3315)CGT>CAT	p.R1105H	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1105H|SMARCA2_uc010mha.2_Missense_Mutation_p.R1038H	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1105	Helicase C-terminal.				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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTGAAGATCGTGCTGCTTTG	0.438													A	2110275	G	A	2110275	3	1	166	1	0	0	0	0	1	0	0	0	14769	1145	40	1	3404	1	SMARCA2	9	2110275	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08		2110275	139103156	617	91159											
KCNV2	169522	broad.mit.edu	37	chr9	2718008	2718008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaagcccgagggccccaGcgaccctccggccctgctgt	12	20	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:2718008G>A	uc003zho.1	+	1	483	c.269G>A	c.(268-270)AGC>AAC	p.S90N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	90	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GAGGGCCCCAGCGACCCTCCG	0.667													A	2718008	G	A	2718008	3	1	166	1	0	0	0	0	1	0	0	0	8095	971	34	2	271	2	KCNV2	9	2718008	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	607733	2718008	138495423	618	91160											
UHRF2	115426	broad.mit.edu	37	chr9	6482085	6482085	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttggatcaacttggAgatttagagttcaggtatgt	11	5	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:6482085A>T	uc003zjy.2	+	8	1718	c.1378A>T	c.(1378-1380)AGA>TGA	p.R460*	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Nonsense_Mutation_p.R237*	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	460	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATCAACTTGGAGATTTAGAGT	0.398													T	6482085	A	T	6482085	4	4	166	1	0	0	0	0	0	1	0	0	16967	296	11	5	1408	5	UHRF2	9	6482085	Nonsense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	3764077	6482085	134731346	619	91161											
TYRP1	7306	broad.mit.edu	37	chr9	12694160	12694160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggcctgggacagaccGctgtggctcatcatcaggga	15	11	4	1	rs139670838		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:12694160G>A	uc003zkv.3	+	2	342	c.164G>A	c.(163-165)CGC>CAC	p.R55H		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	55	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GGGACAGACCGCTGTGGCTCA	0.602									Oculocutaneous_Albinism				A	12694160	G	A	12694160	3	1	166	1	0	0	0	0	1	0	0	0	16813	1087	38	1	166	1	TYRP1	9	12694160	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6212075	12694160	128519271	620	91162											
PSIP1	11168	broad.mit.edu	37	chr9	15479598	15479598	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaatcctacctgcaggtcGtcctcttttaggactcactt	7	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:15479598G>A	uc003zlv.3	-	7	874	c.544C>T	c.(544-546)CGA>TGA	p.R182*	PSIP1_uc003zlw.3_Nonsense_Mutation_p.R182*|PSIP1_uc003zlz.3_Nonsense_Mutation_p.R182*|PSIP1_uc003zma.3_Nonsense_Mutation_p.R173*|PSIP1_uc003zly.2_Nonsense_Mutation_p.R182*	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	182					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|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTGCAGGTCGTCCTCTTTTA	0.373													A	15479598	G	A	15479598	4	1	166	1	0	0	0	0	0	1	0	0	12663	1153	40	1	1117	1	PSIP1	9	15479598	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2785438	15479598	125733833	621	91163											
IFNA8	3445	broad.mit.edu	37	chr9	21409548	21409548	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagtcctgtgtgatgCaggaagtgggggtgatagag	18	5	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:21409548C>T	uc003zpc.1	+	1	403	c.373C>T	c.(373-375)CAG>TAG	p.Q125*		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	125					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				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTGTGTGATGCAGGAAGTGGG	0.478													T	21409548	C	T	21409548	4	4	166	1	0	0	0	0	0	1	0	0	7543	711	25	2	375	2	IFNA8	9	21409548	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5929950	21409548	119803883	622	91164											
TOPORS	10210	broad.mit.edu	37	chr9	32542476	32542476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatctctatttctgctccGtgatcttcttttaccatgat	5	11	4	2	rs143249653		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:32542476G>A	uc003zrb.2	-	3	2214	c.2047C>T	c.(2047-2049)CGG>TGG	p.R683W	TOPORS_uc003zrc.2_Missense_Mutation_p.R616W	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	683	Interaction with TOP1.|Arg-rich.|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			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTTCTGCTCCGTGATCTTCTT	0.388													A	32542476	G	A	32542476	3	1	166	1	0	0	0	0	1	0	0	0	16367	1144	40	1	1094	1	TOPORS	9	32542476	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	11132928	32542476	108670955	623	91165											
DNAJA1	3301	broad.mit.edu	37	chr9	33038834	33038834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaaagacggcgccactAcaatggagaagcatatgagg	13	8	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:33038834A>G	uc003zsd.1	+	9	1310	c.1127A>G	c.(1126-1128)TAC>TGC	p.Y376C	DNAJA1_uc011lnt.1_Missense_Mutation_p.Y219C	NM_001539	NP_001530	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	376					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				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CGGCGCCACTACAATGGAGAA	0.473													G	33038834	A	G	33038834	3	3	166	1	0	0	0	0	1	0	0	0	4611	391	14	3	1157	3	DNAJA1	9	33038834	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	496358	33038834	108174597	624	91166											
SPINK4	27290	broad.mit.edu	37	chr9	33246634	33246635	+	Frame_Shift_Del	DEL	AG	AG	-													cccatctgtgaacacatggtAgagtctccaacctgttccca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:33246633_33246634TAG>T	uc003zsh.3	+	2	133_134	c.122_123TAG>T	c.(121-123)gtafs	p.V41fs		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	41	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GAACACATGGTAGAGTCTCCAA	0.554													-	33246635	AG	-	33246634	7	5	166	1	0	1	0	1	0	0	0	0	15060	407	15	0	133	0	SPINK4	9	33246634	Frame_Shift_Del	DEL	AG	TCGA-CG-4306-01A-01D-1158-08	207800	33246634	107966797	625	91167											
NOL6	65083	broad.mit.edu	37	chr9	33467247	33467247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggatccccagaactggCggaatttagcagcctgagga	14	10	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:33467247C>T	uc003zsz.2	-	14	1840	c.1739G>A	c.(1738-1740)CGC>CAC	p.R580H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.R580H|NOL6_uc010mjv.2_Missense_Mutation_p.R577H|NOL6_uc011lob.1_Missense_Mutation_p.R528H|NOL6_uc003ztb.1_Missense_Mutation_p.R580H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	580					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCAGAACTGGCGGAATTTAGC	0.607											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33467247	C	T	33467247	3	4	166	1	0	0	0	0	1	0	0	0	10525	768	27	1	1753	1	NOL6	9	33467247	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	220613	33467247	107746184	626	91168											
KIAA1161	57462	broad.mit.edu	37	chr9	34372899	34372899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcagccaggccggcggcGgcgggggtaggcctggctct	20	12	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:34372899G>A	uc003zue.3	-	2	210	c.43C>T	c.(43-45)CGC>TGC	p.R15C		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	15	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GGCCGGCGGCGGCGGGGGTAG	0.627													A	34372899	G	A	34372899	3	1	166	1	0	0	0	0	1	0	0	0	8211	1116	39	1	2105	1	KIAA1161	9	34372899	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	905652	34372899	106840532	627	91169											
DCTN3	11258	broad.mit.edu	37	chr9	34617918	34617918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttagaggcatcaggtaTggcaatgcggtcgatgtact	13	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:34617918T>C	uc003zux.1	-	3	267	c.232A>G	c.(232-234)ATA>GTA	p.I78V	DCTN3_uc003zuw.1_Missense_Mutation_p.I78V	NM_007234	NP_009165	O75935	DCTN3_HUMAN	dynactin 3 isoform 1	78					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				0	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		GCATCAGGTATGGCAATGCGG	0.478													C	34617918	T	C	34617918	3	2	166	1	0	0	0	0	1	0	0	0	4308	1464	51	3	445	3	DCTN3	9	34617918	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	245019	34617918	106595513	628	91170											
DNAJB5	25822	broad.mit.edu	37	chr9	34996554	34996554	+	Frame_Shift_Del	DEL	C	C	-													cctcggcgcaaggtgcaggaCcccccagtggtgcacgagct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:34996553_34996553AC>A	uc011los.2	+	2	1080	c.719_719AC>A	c.(718-720)gacfs	p.D240fs	DNAJB5_uc003zvs.3_Frame_Shift_Del_p.D202fs|DNAJB5_uc003zvt.3_Frame_Shift_Del_p.D168fs	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	168					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AAGGTGCAGGACCCCCCAGTG	0.622													-	34996554	C	-	34996554	7	5	166	1	0	1	0	1	0	0	0	0	4623	506	18	0	730	0	DNAJB5	9	34996554	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	378636	34996554	106216877	629	91171											
STOML2	30968	broad.mit.edu	37	chr9	35101920	35101920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtaagggtccatgatgCgcaggtaaaggactccatcg	12	10	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:35101920C>T	uc003zwi.2	-	4	386	c.323G>A	c.(322-324)CGC>CAC	p.R108H	STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.R108H|STOML2_uc003zwk.2_Missense_Mutation_p.R57H	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	108						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCCATGATGCGCAGGTAAAG	0.473													T	35101920	C	T	35101920	3	4	166	1	0	0	0	0	1	0	0	0	15313	768	27	1	775	1	STOML2	9	35101920	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	105366	35101920	106111511	630	91172											
RUSC2	9853	broad.mit.edu	37	chr9	35559222	35559222	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacctgtctccctacaGcatccggtccctggagttct	7	16	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:35559222G>T	uc003zww.2	+	9	3597	c.3342_splice	c.e9-1	p.N1114_splice	RUSC2_uc010mkq.2_Splice_Site|RUSC2_uc003zwx.3_Splice_Site_p.N1114_splice	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2							cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCCTACAGCATCCGGTCC	0.502													T	35559222	G	T	35559222	5	4	166	1	0	0	0	0	0	0	1	0	13751	985	34	5	3371	5	RUSC2	9	35559222	Splice_Site	SNP	G	TCGA-CG-4306-01A-01D-1158-08	457302	35559222	105654209	631	91173											
NPR2	4882	broad.mit.edu	37	chr9	35794060	35794060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccctggcaggacaatcGcacccgggaacaggcccagg	14	16	0	0	rs114995755	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:35794060G>A	uc003zyd.2	+	2	833	c.833G>A	c.(832-834)CGC>CAC	p.R278H	NPR2_uc010mlb.2_Missense_Mutation_p.R278H	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	278	Extracellular (Potential).				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			ovary(2)|stomach(1)	3	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)	CAGGACAATCGCACCCGGgaa	0.378													A	35794060	G	A	35794060	3	1	166	1	0	0	0	0	1	0	0	0	10595	1087	38	1	839	1	NPR2	9	35794060	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	234838	35794060	105419371	632	91174											
FBXO10	26267	broad.mit.edu	37	chr9	37541398	37541398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggccatggccaaggcaCtgcccaggctgtcaaactca	12	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:37541398C>T	uc004aab.2	-	2	417	c.368G>A	c.(367-369)AGT>AAT	p.S123N	FBXO10_uc004aac.2_Missense_Mutation_p.S139N|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	123						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		GGCCAAGGCACTGCCCAGGCT	0.542													T	37541398	C	T	37541398	3	4	166	1	0	0	0	0	1	0	0	0	5726	565	20	4	2542	4	FBXO10	9	37541398	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1747338	37541398	103672033	633	91175											
TRPM3	80036	broad.mit.edu	37	chr9	73152135	73152135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgtccgtgcagtctgaCgaggtcctcgagcggatttt	15	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:73152135C>T	uc004aid.2	-	25	4102	c.3858G>A	c.(3856-3858)TCG>TCA	p.S1286S	TRPM3_uc004ahu.2_Silent_p.S1128S|TRPM3_uc004ahv.2_Silent_p.S1088S|TRPM3_uc004ahw.2_Silent_p.S1158S|TRPM3_uc004ahx.2_Silent_p.S1145S|TRPM3_uc004ahy.2_Silent_p.S1148S|TRPM3_uc004ahz.2_Silent_p.S1135S|TRPM3_uc004aia.2_Silent_p.S1133S|TRPM3_uc004aib.2_Silent_p.S1123S|TRPM3_uc004aic.2_Silent_p.S1286S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1311	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGCAGTCTGACGAGGTCCTCG	0.612													T	73152135	C	T	73152135	2	4	166	1	0	0	0	0	0	0	0	1	16584	523	19	1		1	TRPM3	9	73152135	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	35610737	73152135	68061296	634	91176											
TMC1	117531	broad.mit.edu	37	chr9	75369791	75369791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactttggtgtgttgtaCgacttcaatgtaagtgtctc	10	7	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:75369791C>T	uc004aiz.1	+	12	1272	c.732C>T	c.(730-732)TAC>TAT	p.Y244Y	TMC1_uc010moz.1_Silent_p.Y202Y|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.Y98Y|TMC1_uc010mpa.1_Silent_p.Y98Y	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	244	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						GTGTGTTGTACGACTTCAATG	0.458													T	75369791	C	T	75369791	2	4	166	1	0	0	0	0	0	0	0	1	15981	547	19	1		1	TMC1	9	75369791	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2217656	75369791	65843640	635	91177											
PCSK5	5125	broad.mit.edu	37	chr9	78804620	78804621	+	Frame_Shift_Ins	INS	-	-	T													ctgccctagtgggtatctctINStagacttaggaatgtgtcaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:78804619_78804620C>CT	uc004akc.2	+	19	3121_3122	c.2583_2584C>CT	c.(2581-2586)ctcttafs	p.L861fs	PCSK5_uc004ajz.3_Frame_Shift_Ins_p.L861fs|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Frame_Shift_Ins_p.L135fs	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	861	CRM (Cys-rich motif).				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	Golgi lumen|extracellular space|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						GTGGGTATCTCTTAGACTTAGG	0.391													T	78804621	-	T	78804620	7	5	166	1	0	1	1	0	0	0	0	0	11603	1606	56	0	2662	0	PCSK5	9	78804620	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	3434829	78804620	62408811	636	91178											
VPS13A	23230	broad.mit.edu	37	chr9	79792679	79792679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgggggactatgtggTggacttggacacgtcccagc	15	9	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:79792679T>C	uc004akr.2	+	1	319	c.59T>C	c.(58-60)GTG>GCG	p.V20A	VPS13A_uc004akp.3_Missense_Mutation_p.V20A|VPS13A_uc004akq.3_Missense_Mutation_p.V20A|VPS13A_uc004aks.2_Missense_Mutation_p.V20A|uc011lsn.1_RNA	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	20					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GACTATGTGGTGGACTTGGAC	0.667													C	79792679	T	C	79792679	3	2	166	1	0	0	0	0	1	0	0	0	17186	1696	59	3	61	3	VPS13A	9	79792679	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	988059	79792679	61420752	637	91179											
AGTPBP1	23287	broad.mit.edu	37	chr9	88236193	88236193	+	Frame_Shift_Del	DEL	T	T	-													cctttcaatatcttgagcaaTttttgtcctgaaatcataaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:88236192_88236192AT>A	uc011lte.2	-	13	2127	c.2060_2060AT>T	c.(2059-2061)attfs	p.I687fs	AGTPBP1_uc004aod.4_Frame_Shift_Del_p.I301fs|AGTPBP1_uc011ltc.2_Frame_Shift_Del_p.I573fs|AGTPBP1_uc011ltd.2_Frame_Shift_Del_p.I675fs|AGTPBP1_uc010mqc.3_Frame_Shift_Del_p.I635fs	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	675					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	p.Q686E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATCTTGAGCAATTTTTGTCCT	0.284													-	88236193	T	-	88236193	7	5	166	1	0	1	0	1	0	0	0	0	400	1493	52	0	1705	0	AGTPBP1	9	88236193	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	8443514	88236193	52977238	638	91180											
CTSL1	1514	broad.mit.edu	37	chr9	90343560	90343560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgaaggacagatgttcCggaaaactgggaggcttatc	12	8	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:90343560C>T	uc004aph.2	+	5	807	c.457C>T	c.(457-459)CGG>TGG	p.R153W	CTSL1_uc004api.2_Missense_Mutation_p.R153W|CTSL1_uc004apj.2_Missense_Mutation_p.R98W|CTSL1_uc010mqh.2_Intron|CTSL1_uc004apk.2_Missense_Mutation_p.R153W|CTSL1_uc004apl.2_Missense_Mutation_p.R153W	NM_001912	NP_001903	P07711	CATL1_HUMAN	cathepsin L1 preproprotein	153					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			ovary(3)	3					Glucagon recombinant(DB00040)	ACAGATGTTCCGGAAAACTGG	0.463													T	90343560	C	T	90343560	3	4	166	1	0	0	0	0	1	0	0	0	4038	643	23	1	471	1	CTSL1	9	90343560	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2107367	90343560	50869871	639	91181											
CKS2	1164	broad.mit.edu	37	chr9	91926143	91926143	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgttgcctgggctggaCgtggttttgtctgctgcgcc	16	9	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:91926143C>T	uc004aqh.2	+	1	31	c.-64C>T	c.(-66--62)GACGT>GATGT		hsa-mir-3153|MI0014180_5'Flank	NM_001827	NP_001818	P33552	CKS2_HUMAN	CDC28 protein kinase 2						cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity				0						CTGGGCTGGACGTGGTTTTGT	0.607													T	91926143	C	T	91926143	1	4	166	1	0	0	0	0	0	0	0	0	3453	551	19	1		1	CKS2	9	91926143	Translation_Start_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1582583	91926143	49287288	640	91182											
SECISBP2	79048	broad.mit.edu	37	chr9	91964707	91964707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggccagaggggatggaCgaactgatctccactccttc	13	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:91964707C>T	uc004aqj.1	+	13	1835	c.1755C>T	c.(1753-1755)GAC>GAT	p.D585D	SECISBP2_uc011ltk.1_Silent_p.D584D|SECISBP2_uc004aqk.1_Silent_p.D512D|SECISBP2_uc010mqo.1_Silent_p.D290D|SECISBP2_uc011ltl.1_Silent_p.D517D	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						AGGGGATGGACGAACTGATCT	0.567													T	91964707	C	T	91964707	2	4	166	1	0	0	0	0	0	0	0	1	14006	535	19	1		1	SECISBP2	9	91964707	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	38564	91964707	49248724	641	91183											
IARS	3376	broad.mit.edu	37	chr9	95012488	95012488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttatgggaatagtttttCggtctctgatcactcttcca	7	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:95012488C>T	uc004art.1	-	24	2770	c.2513G>A	c.(2512-2514)CGA>CAA	p.R838Q	IARS_uc004ars.1_Missense_Mutation_p.R683Q|IARS_uc004aru.3_Missense_Mutation_p.R838Q|IARS_uc010mqr.2_Missense_Mutation_p.R728Q|IARS_uc010mqt.2_Missense_Mutation_p.R61Q	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	838					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	AATAGTTTTTCGGTCTCTGAT	0.353													T	95012488	C	T	95012488	3	4	166	1	0	0	0	0	1	0	0	0	7473	884	31	1	1319	1	IARS	9	95012488	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3047781	95012488	46200943	642	91184											
NOL8	55035	broad.mit.edu	37	chr9	95073456	95073456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcctctcctggatggctcTgctcctgagtcgatgtctcc	9	14	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:95073456T>C	uc004arv.2	-	8	2781	c.2444A>G	c.(2443-2445)CAG>CGG	p.Q815R	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.Q47R|NOL8_uc011ltw.1_Missense_Mutation_p.Q747R	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	815					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TGGATGGCTCTGCTCCTGAGT	0.493													C	95073456	T	C	95073456	3	2	166	1	0	0	0	0	1	0	0	0	10527	1580	55	3	1099	3	NOL8	9	95073456	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	60968	95073456	46139975	643	91185											
ASPN	54829	broad.mit.edu	37	chr9	95236979	95236979	+	Frame_Shift_Del	DEL	A	A	-													attggaaacagatcaaatggAaaaaaatggcttcttggctc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:95236978_95236978GA>G	uc004ase.2	-	1	502	c.202_202TC>C	c.(202-204)ccafs	p.P68fs	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Frame_Shift_Del_p.P68fs	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	68	LRRNT.				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						AGATCAAATGGAAAAAAATGG	0.368													-	95236979	A	-	95236979	7	5	166	1	0	1	0	1	0	0	0	0	1057	243	9	0	969	0	ASPN	9	95236979	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	163523	95236979	45976452	644	91186											
FAM120A	23196	broad.mit.edu	37	chr9	96214614	96214614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaaaggtctggttcctGccgcccgtctgcatggccca	11	17	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:96214614G>A	uc004atw.2	+	1	442	c.417G>A	c.(415-417)CTG>CTA	p.L139L	FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Silent_p.G126G|FAM120A_uc004atv.2_Silent_p.L139L	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	139						cytoplasm|plasma membrane	RNA binding				0						TCTGGTTCCTGCCGCCCGTCT	0.567													A	96214614	G	A	96214614	2	1	166	1	0	0	0	0	0	0	0	1	5415	1306	46	2		2	FAM120A	9	96214614	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	977635	96214614	44998817	645	91187											
ZNF367	195828	broad.mit.edu	37	chr9	99150564	99150564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttggcaagctctatgagCgcgagggctccatgcaggcg	16	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:99150564C>T	uc004awf.2	-	5	1363	c.1008G>A	c.(1006-1008)GCG>GCA	p.A336A		NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336	Potential.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577													T	99150564	C	T	99150564	2	4	166	1	0	0	0	0	0	0	0	1	17868	755	27	1		1	ZNF367	9	99150564	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2935950	99150564	42062867	646	91188											
ERP44	23071	broad.mit.edu	37	chr9	102778630	102778630	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcaaatgttatttctcGgacaagaggaacacatttat	6	6	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:102778630G>A	uc004bam.2	-	8	944	c.736C>T	c.(736-738)CGA>TGA	p.R246*	ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Nonsense_Mutation_p.R246*	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	thioredoxin domain containing 4 (endoplasmic	246	Interaction with ITPR1 (By similarity).				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity				0						GTTATTTCTCGGACAAGAGGA	0.373													A	102778630	G	A	102778630	4	1	166	1	0	0	0	0	0	1	0	0	5243	1124	39	1	504	1	ERP44	9	102778630	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3628066	102778630	38434801	647	91189											
ERP44	23071	broad.mit.edu	37	chr9	102782969	102782969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaactctatagttgtcCgagtccttttgctcaaaata	5	9	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:102782969C>T	uc004bam.2	-	6	724	c.516G>A	c.(514-516)TCG>TCA	p.S172S	ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Silent_p.S172S	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	thioredoxin domain containing 4 (endoplasmic	172					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity				0						TATAGTTGTCCGAGTCCTTTT	0.313													T	102782969	C	T	102782969	2	4	166	1	0	0	0	0	0	0	0	1	5243	639	23	1		1	ERP44	9	102782969	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4339	102782969	38430462	648	91190											
OR13C4	138804	broad.mit.edu	37	chr9	107289389	107289389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattagaatcactacgtaCataactagaatcagagcaaa	5	9	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:107289389C>T	uc011lvn.1	-	1	102	c.102G>A	c.(100-102)ATG>ATA	p.M34I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCACTACGTACATAACTAGAA	0.413													T	107289389	C	T	107289389	3	4	166	1	0	0	0	0	1	0	0	0	10936	478	17	4	856	4	OR13C4	9	107289389	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4506420	107289389	33924042	649	91191											
TMEM38B	55151	broad.mit.edu	37	chr9	108483828	108483829	+	Frame_Shift_Ins	INS	-	-	T													cattttcaggtatattacatINSttttttgcccgcatgaccta							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:108483827_108483828A>AT	uc004bcu.1	+	2	396_397	c.279_280A>AT	c.(277-282)acatttfs	p.T93fs	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	93						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GGTATATTACATTTTTTTGCCC	0.342													T	108483829	-	T	108483828	7	5	166	1	0	1	1	0	0	0	0	0	16157	1493	52	0	290	0	TMEM38B	9	108483828	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1194439	108483828	32729603	650	91192											
ZNF462	58499	broad.mit.edu	37	chr9	109692859	109692859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaggaaagtggtgggCtacaaatgtaaattctgtgt	14	3	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:109692859C>T	uc004bcz.2	+	4	6190	c.5901C>T	c.(5899-5901)GGC>GGT	p.G1967G	ZNF462_uc010mto.2_Silent_p.G1815G|ZNF462_uc004bda.2_Silent_p.G1815G|ZNF462_uc011lvz.1_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1967					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAGTGGTGGGCTACAAATGTA	0.507													T	109692859	C	T	109692859	2	4	166	1	0	0	0	0	0	0	0	1	17923	784	28	2		2	ZNF462	9	109692859	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1209031	109692859	31520572	651	91193											
ZNF462	58499	broad.mit.edu	37	chr9	109694807	109694807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagctgccagtattgctcGtttgtttctgctttcaggca	9	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:109694807G>A	uc004bcz.2	+	5	6382	c.6093G>A	c.(6091-6093)TCG>TCA	p.S2031S	ZNF462_uc010mto.2_Silent_p.S1940S|ZNF462_uc004bda.2_Silent_p.S1939S|ZNF462_uc011lvz.1_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2031	C2H2-type 19.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGTATTGCTCGTTTGTTTCTG	0.527													A	109694807	G	A	109694807	2	1	166	1	0	0	0	0	0	0	0	1	17923	1132	40	1		1	ZNF462	9	109694807	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1948	109694807	31518624	652	91194											
KLF4	9314	broad.mit.edu	37	chr9	110248069	110248069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtaaggcgaggtggtccGacctggaaaatgctcggtcg	16	8	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:110248069G>A	uc004bdh.2	-	4	2099	c.1478C>T	c.(1477-1479)TCG>TTG	p.S493L	KLF4_uc004bdf.1_Missense_Mutation_p.S418L|KLF4_uc004bdg.2_Missense_Mutation_p.S468L	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	502	C2H2-type 3.|Interaction with target DNA (By similarity).				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			central_nervous_system(2)|lung(1)	3						GAGGTGGTCCGACCTGGAAAA	0.493													A	110248069	G	A	110248069	3	1	166	1	0	0	0	0	1	0	0	0	8348	1059	37	1	40	1	KLF4	9	110248069	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	553262	110248069	30965362	653	91195											
SVEP1	79987	broad.mit.edu	37	chr9	113241917	113241917	+	Splice_Site	DEL	T	T	-													tgaccactattgatgtaccaTttttcccagggtcgtctcaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:113241916_113241916AT>A	uc010mtz.3	-	13	2824	c.2487_splice	c.e13+1	p.M829_splice	SVEP1_uc010mua.1_Splice_Site_p.M829_splice|SVEP1_uc004beu.2_Splice_Site_p.M829_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	829					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						TTGATGTACCATTTTTCCCAG	0.388													-	113241917	T	-	113241917	8	5	166	1	0	1	0	1	0	0	1	0	15417	1493	52	0	8374	0	SVEP1	9	113241917	Splice_Site	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2993848	113241917	27971514	654	91196											
ALAD	210	broad.mit.edu	37	chr9	116152094	116152094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaaatttggcactgtaGctcatcaccgatacctatgg	9	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:116152094G>A	uc011lxf.1	-	8	787	c.585C>T	c.(583-585)AGC>AGT	p.S195S	ALAD_uc011lxe.1_Silent_p.S178S|ALAD_uc004bhl.3_Silent_p.S224S	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	195					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	TGGCACTGTAGCTCATCACCG	0.562													A	116152094	G	A	116152094	2	1	166	1	0	0	0	0	0	0	0	1	483	962	34	2		2	ALAD	9	116152094	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2910177	116152094	25061337	655	91197											
PTGS1	5742	broad.mit.edu	37	chr9	125148845	125148845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaataccgcaaccgcattgCcatggagttcaaccatctct	6	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:125148845C>T	uc004bmg.1	+	9	1265	c.1130C>T	c.(1129-1131)GCC>GTC	p.A377V	PTGS1_uc011lys.1_Missense_Mutation_p.A352V|PTGS1_uc010mwb.1_Missense_Mutation_p.A268V|PTGS1_uc004bmf.1_Missense_Mutation_p.A377V|PTGS1_uc004bmh.1_Missense_Mutation_p.A268V|PTGS1_uc011lyt.1_Missense_Mutation_p.A268V	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	377					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			ovary(1)|skin(1)	2					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)	AACCGCATTGCCATGGAGTTC	0.542													T	125148845	C	T	125148845	3	4	166	1	0	0	0	0	1	0	0	0	12755	739	26	2	1164	2	PTGS1	9	125148845	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	8996751	125148845	16064586	656	91198											
OR1Q1	158131	broad.mit.edu	37	chr9	125377740	125377740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaccttttctacctgcGgctcccacctcactgtggtg	9	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:125377740G>A	uc011lyy.1	+	1	724	c.724G>A	c.(724-726)GGC>AGC	p.G242S		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTCTACCTGCGGCTCCCACCT	0.557													A	125377740	G	A	125377740	3	1	166	1	0	0	0	0	1	0	0	0	10971	1116	39	1	726	1	OR1Q1	9	125377740	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	228895	125377740	15835691	657	91199											
GPR21	2844	broad.mit.edu	37	chr9	125797169	125797169	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagatatttggttttgtAgtatcagttctgaagagcgt	11	5	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:125797169A>G	uc011lzk.1	+	1	324	c.324A>G	c.(322-324)GTA>GTG	p.V108V	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	108	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TTGGTTTTGTAGTATCAGTTC	0.443													G	125797169	A	G	125797169	2	3	166	1	0	0	0	0	0	0	0	1	6681	407	15	3		3	GPR21	9	125797169	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	419429	125797169	15416262	658	91200											
NR5A1	2516	broad.mit.edu	37	chr9	127262518	127262518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccaagatgcgggcccGcacctggtcctcatccggct	12	17	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:127262518G>A	uc004boo.1	-	4	908	c.721C>T	c.(721-723)CGG>TGG	p.R241W		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	241	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						ATGCGGGCCCGCACCTGGTCC	0.677													A	127262518	G	A	127262518	3	1	166	1	0	0	0	0	1	0	0	0	10635	1086	38	1	680	1	NR5A1	9	127262518	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1465349	127262518	13950913	659	91201											
NR6A1	2649	broad.mit.edu	37	chr9	127289148	127289148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatagaggtagatgagccGctcgatcacctccatccctt	10	12	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:127289148G>A	uc004bor.1	-	8	1289	c.1111C>T	c.(1111-1113)CGG>TGG	p.R371W	NR6A1_uc004boq.1_Missense_Mutation_p.R366W|NR6A1_uc010mwq.1_Missense_Mutation_p.R367W	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	371					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TAGATGAGCCGCTCGATCACC	0.488													A	127289148	G	A	127289148	3	1	166	1	0	0	0	0	1	0	0	0	10637	1086	38	1	343	1	NR6A1	9	127289148	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	26630	127289148	13924283	660	91202											
FAM129B	64855	broad.mit.edu	37	chr9	130272446	130272446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccagcttgtcaatgccGccctcgttgatgacgttcag	10	14	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:130272446G>A	uc004brh.2	-	9	1342	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	FAM129B_uc004bri.2_Silent_p.G367G|FAM129B_uc004brj.3_Silent_p.G380G	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	380							protein binding				0						TGTCAATGCCGCCCTCGTTGA	0.632													A	130272446	G	A	130272446	2	1	166	1	0	0	0	0	0	0	0	1	5437	1074	38	1		1	FAM129B	9	130272446	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2983298	130272446	10940985	661	91203											
SH2D3C	10044	broad.mit.edu	37	chr9	130507379	130507379	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcatggacacgggttaCtgcagaaaggtagagagaga	17	6	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:130507379C>T	uc004bsc.2	-	7	1407	c.1265_splice	c.e7-1	p.V422_splice	SH2D3C_uc010mxo.2_Splice_Site_p.V262_splice|SH2D3C_uc004bry.2_Splice_Site_p.V264_splice|SH2D3C_uc004brz.3_Splice_Site_p.V68_splice|SH2D3C_uc011mak.1_Splice_Site_p.V68_splice|SH2D3C_uc004bsa.2_Splice_Site_p.V265_splice|SH2D3C_uc004bsb.2_Splice_Site_p.V354_splice	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a						JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						ACACGGGTTACTGCAGAAAGG	0.622													T	130507379	C	T	130507379	5	4	166	1	0	0	0	0	0	0	1	0	14234	579	20	4	1342	4	SH2D3C	9	130507379	Splice_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08	234933	130507379	10706052	662	91204											
CERCAM	51148	broad.mit.edu	37	chr9	131191074	131191074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcctcagctcatgtgactCggccctctaagaggcccagc	11	15	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:131191074C>T	uc004buz.3	+	7	1323	c.925C>T	c.(925-927)CGG>TGG	p.R309W	CERCAM_uc004buy.1_Missense_Mutation_p.R231W|CERCAM_uc010mxz.2_Missense_Mutation_p.R231W|CERCAM_uc010mya.1_Missense_Mutation_p.R150W	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	309					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						TCATGTGACTCGGCCCTCTAA	0.617													T	131191074	C	T	131191074	3	4	166	1	0	0	0	0	1	0	0	0	3266	875	31	1	951	1	CERCAM	9	131191074	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	683695	131191074	10022357	663	91205											
SPTAN1	6709	broad.mit.edu	37	chr9	131339207	131339208	+	Frame_Shift_Ins	INS	-	-	G													gaggcaggggaagctctttgINSgggcagcagaagttcagcgc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:131339206_131339207T>TG	uc004bvl.4	+	5	898_899	c.756_757T>TG	c.(754-759)tttgggfs	p.F252fs	SPTAN1_uc011mbg.2_Frame_Shift_Ins_p.F252fs|SPTAN1_uc011mbh.2_Frame_Shift_Ins_p.F264fs|SPTAN1_uc004bvm.4_Frame_Shift_Ins_p.F252fs|SPTAN1_uc004bvn.4_Frame_Shift_Ins_p.F252fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	252					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						GGAAGCTCTTTGGGGCAGCAGA	0.574													G	131339208	-	G	131339207	7	5	166	1	0	1	1	0	0	0	0	0	15116	1348	47	0	775	0	SPTAN1	9	131339207	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	148133	131339207	9874224	664	91206											
SET	6418	broad.mit.edu	37	chr9	131455924	131455924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtattcatttaggatttgaCgaaacgttcgagtcaaacgc	10	7	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:131455924C>T	uc004bvt.3	+	6	780	c.539C>T	c.(538-540)ACG>ATG	p.T180M	SET_uc004bvu.3_Missense_Mutation_p.T167M|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.T156M	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	180					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TAGGATTTGACGAAACGTTCG	0.408			T	NUP214	AML								T	131455924	C	T	131455924	3	4	166	1	0	0	0	0	1	0	0	0	14128	536	19	1	638	1	SET	9	131455924	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	116717	131455924	9757507	665	91207											
NCS1	23413	broad.mit.edu	37	chr9	132980142	132980143	+	Frame_Shift_Ins	INS	-	-	G													catcaaggactgccccagtgINSggcagctggatgcggcaggc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:132980141_132980142T>TG	uc004bzi.2	+	2	206_207	c.120_121T>TG	c.(118-123)agtgggfs	p.S40fs	NCS1_uc010myz.1_Frame_Shift_Ins_p.S22fs	NM_014286	NP_055101	P62166	NCS1_HUMAN	Homo sapiens neuronal calcium sensor 1 (NCS1), transcript variant 1, mRNA.	40	EF-hand 1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	Golgi cisterna membrane|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						ACTGCCCCAGTGGGCAGCTGGA	0.55													G	132980143	-	G	132980142	7	5	166	1	0	1	1	0	0	0	0	0	10240	1348	47	0	145	0	NCS1	9	132980142	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1524218	132980142	8233289	666	91208											
FUBP3	8939	broad.mit.edu	37	chr9	133506076	133506076	+	Frame_Shift_Del	DEL	C	C	-													cacgtggagcttcagaggaaCccccctcccaacagcgaccc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:133506075_133506075AC>A	uc004bzr.1	+	12	1286	c.1178_1178AC>A	c.(1177-1179)aacfs	p.N393fs		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	393	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTTCAGAGGAACCCCCCTCCC	0.587													-	133506076	C	-	133506076	7	5	166	1	0	1	0	1	0	0	0	0	6093	506	18	0	1229	0	FUBP3	9	133506076	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	525934	133506076	7707355	667	91209											
LAMC3	10319	broad.mit.edu	37	chr9	133914292	133914292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgaggaatgcacgtttgatCgggagctcttccgcagcaca	12	12	1	1	rs146887458		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:133914292C>T	uc004caa.1	+	5	1116	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	340	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACGTTTGATCGGGAGCTCTT	0.607													T	133914292	C	T	133914292	3	4	166	1	0	0	0	0	1	0	0	0	8616	875	31	1	1036	1	LAMC3	9	133914292	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	408216	133914292	7299139	668	91210											
LAMC3	10319	broad.mit.edu	37	chr9	133942368	133942368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgctgtgaggtctgtgAtgatggcttttttggggacc	17	7	1	3	rs147529316		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:133942368A>G	uc004caa.1	+	14	2467	c.2369A>G	c.(2368-2370)GAT>GGT	p.D790G		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	790	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGGTCTGTGATGATGGCTTT	0.637													G	133942368	A	G	133942368	3	3	166	1	0	0	0	0	1	0	0	0	8616	333	12	3	2423	3	LAMC3	9	133942368	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	28076	133942368	7271063	669	91211											
BRD3	8019	broad.mit.edu	37	chr9	136901415	136901415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgagtcgtaggaggCagatgcctgcttgccgcctt	12	12	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:136901415C>T	uc004cew.2	-	10	1863	c.1675G>A	c.(1675-1677)GCC>ACC	p.A559T	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	559						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TCGTAGGAGGCAGATGCCTGC	0.607			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136901415	C	T	136901415	3	4	166	1	0	0	0	0	1	0	0	0	1503	710	25	2	517	2	BRD3	9	136901415	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2959047	136901415	4312016	670	91212											
OLFM1	10439	broad.mit.edu	37	chr9	138011370	138011370	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtacatggacggctaTcacaacaaccgcttcgtacg	11	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:138011370T>A	uc010nar.2	+	6	1120	c.804T>A	c.(802-804)TAT>TAA	p.Y268*	OLFM1_uc004cfl.3_Nonsense_Mutation_p.Y250*|OLFM1_uc004cfn.3_Nonsense_Mutation_p.Y19*	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	268	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGGACGGCTATCACAACAACC	0.557													A	138011370	T	A	138011370	4	1	166	1	0	0	0	0	0	1	0	0	10852	1442	50	5	782	5	OLFM1	9	138011370	Nonsense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1109955	138011370	3202061	671	91213											
QSOX2	169714	broad.mit.edu	37	chr9	139113734	139113734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaatgctttgtccccGtccagtgctcgggtcaccac	9	15	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139113734G>A	uc010nbi.2	-	6	767	c.729C>T	c.(727-729)GAC>GAT	p.D243D		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	243					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTTTGTCCCCGTCCAGTGCTC	0.507													A	139113734	G	A	139113734	2	1	166	1	0	0	0	0	0	0	0	1	12884	1136	40	1		1	QSOX2	9	139113734	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1102364	139113734	2099697	672	91214											
SNAPC4	6621	broad.mit.edu	37	chr9	139279234	139279234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttaaattccaccgacccTttttcaagctgaaatgtaat	4	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139279234T>C	uc004chh.2	-	13	1367	c.1358A>G	c.(1357-1359)AAG>AGG	p.K453R		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	453	HTH myb-type 3.				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCACCGACCCTTTTTCAAGCT	0.403													C	139279234	T	C	139279234	3	2	166	1	0	0	0	0	1	0	0	0	14837	1609	56	3	3091	3	SNAPC4	9	139279234	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	165500	139279234	1934197	673	91215											
NOTCH1	4851	broad.mit.edu	37	chr9	139412379	139412379	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttgcccgcatgctcgcaGgggttggcacctggcgaggg	16	13	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139412379G>T	uc004chz.2	-	8	1266	c.1266C>A	c.(1264-1266)CCC>CCA	p.P422P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	422	Extracellular (Potential).|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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CATGCTCGCAGGGGTTGGCAC	0.662			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139412379	G	T	139412379	2	4	166	1	0	0	0	0	0	0	0	1	10547	987	35	5		5	NOTCH1	9	139412379	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	133145	139412379	1801052	674	91216											
KIAA1984	84960	broad.mit.edu	37	chr9	139699855	139699855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatggaataccagtcgggCgtgactgctgtggtggagaa	16	6	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139699855C>T	uc004cjf.2	+	9	942	c.894C>T	c.(892-894)GGC>GGT	p.G298G	C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_RNA	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	298										ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACCAGTCGGGCGTGACTGCTG	0.602													T	139699855	C	T	139699855	2	4	166	1	0	0	0	0	0	0	0	1	8266	755	27	1		1	KIAA1984	9	139699855	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	287476	139699855	1513576	675	91217											
C9orf172	389813	broad.mit.edu	37	chr9	139741105	139741105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtgtcggcttcctgtcgCgcggccgcggcgtgctcttc	15	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139741105C>T	uc011meh.1	+	1	2239	c.2239C>T	c.(2239-2241)CGC>TGC	p.R747C	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747											0						CTTCCTGTCGCGCGGCCGCGG	0.697													T	139741105	C	T	139741105	3	4	166	1	0	0	0	0	1	0	0	0	2471	768	27	1	2241	1	C9orf172	9	139741105	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	41250	139741105	1472326	676	91218											
EDF1	8721	broad.mit.edu	37	chr9	139757759	139757759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggccaggtccttctgcGtaagccccttgctctgccga	11	16	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139757759G>A	uc004cjt.1	-	3	300	c.272C>T	c.(271-273)ACG>ATG	p.T91M	EDF1_uc004cju.1_Missense_Mutation_p.T91M	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	91	Interaction with TBP and NR5A1.|HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.			T->A: No effect on CALM-binding.|T->D: Partial loss of interaction with CALM. Complete loss of interaction; when associated with D-40; D-58 and D-111.	endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTCCTTCTGCGTAAGCCCCTT	0.657													A	139757759	G	A	139757759	3	1	166	1	0	0	0	0	1	0	0	0	4914	1145	40	1	221	1	EDF1	9	139757759	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	16654	139757759	1455672	677	91219											
C9orf142	286257	broad.mit.edu	37	chr9	139888076	139888076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacctggagtcaggaggCggtgtccaggagagtcgctc	17	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139888076C>T	uc004cki.2	+	6	561	c.535C>T	c.(535-537)CGG>TGG	p.R179W		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	hypothetical protein LOC286257	179											0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTCAGGAGGCGGTGTCCAGG	0.637													T	139888076	C	T	139888076	3	4	166	1	0	0	0	0	1	0	0	0	2461	759	27	1	557	1	C9orf142	9	139888076	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	130317	139888076	1325355	678	91220											
CACNA1B	774	broad.mit.edu	37	chr9	140809195	140809195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgccatcctcatgtttGccatcattggcctggagttc	8	12	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:140809195G>A	uc004cog.2	+	5	857	c.712G>A	c.(712-714)GCC>ACC	p.A238T		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	238	Helical; Name=S5 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTCATGTTTGCCATCATTGG	0.562													A	140809195	G	A	140809195	3	1	166	1	0	0	0	0	1	0	0	0	2539	1319	46	2	730	2	CACNA1B	9	140809195	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	921119	140809195	404236	679	91221											
ADARB2	105	broad.mit.edu	37	chr10	1279635	1279635	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaaagcatggtctcttaCggtctgtggtgatctcgtag	13	7	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:1279635C>T	uc009xhq.2	-	6	1887	c.1513_splice	c.e6+1	p.L505_splice		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2						mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGGTCTCTTACGGTCTGTGGT	0.597													T	1279635	C	T	1279635	5	4	166	1	0	0	0	0	0	0	1	0	283	550	19	1	725	1	ADARB2	10	1279635	Splice_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08		1279635	134255112	680	91222											
AKR1C3	8644	broad.mit.edu	37	chr10	5144398	5144398	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatctcaacgagacaaaCgatggtaataaaaacaatgg	10	6	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:5144398C>T	uc001ihr.2	+	6	859	c.676C>T	c.(676-678)CGA>TGA	p.R226*	AKR1C3_uc010qap.1_Nonsense_Mutation_p.R203*|AKR1C3_uc001ihu.2_Nonsense_Mutation_p.R226*	NM_003739	NP_003730	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	226	NADP (By similarity).				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			skin(1)	1					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACGAGACAAACGATGGTAATA	0.378													T	5144398	C	T	5144398	4	4	166	1	0	0	0	0	0	1	0	0	471	528	19	1	698	1	AKR1C3	10	5144398	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3864763	5144398	130390349	681	91223											
C10orf18	54906	broad.mit.edu	37	chr10	5799586	5799586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaagaactgtttcgtgCaggaggctttgtgatatcag	11	8	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:5799586C>A	uc001iij.2	+	17	7461	c.6836C>A	c.(6835-6837)GCA>GAA	p.A2279E	C10orf18_uc001iik.2_Missense_Mutation_p.A1123E	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2279										ovary(1)|central_nervous_system(1)	2						CTGTTTCGTGCAGGAGGCTTT	0.423													A	5799586	C	A	5799586	3	1	166	1	0	0	0	0	1	0	0	0	1596	710	25	5	6890	5	C10orf18	10	5799586	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	655188	5799586	129735161	682	91224											
IL2RA	3559	broad.mit.edu	37	chr10	6067873	6067873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcatatagagtgacccGctttttattctgcggaaacc	9	10	1	3	rs74162093		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:6067873G>A	uc001iiz.1	-	2	339	c.180C>T	c.(178-180)AGC>AGT	p.S60S	IL2RA_uc009xih.1_Silent_p.S60S|IL2RA_uc001ija.1_Silent_p.S22S	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	60	Sushi 1.|Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGAGTGACCCGCTTTTTATTC	0.498													A	6067873	G	A	6067873	2	1	166	1	0	0	0	0	0	0	0	1	7686	1078	38	1		1	IL2RA	10	6067873	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	268287	6067873	129466874	683	91225											
CELF2	10659	broad.mit.edu	37	chr10	11363317	11363317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccagagcctgctgcAgcagcagagcgctgcaggca	14	13	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:11363317A>C	uc001iki.3	+	11	1315	c.1223A>C	c.(1222-1224)CAG>CCG	p.Q408P	CELF2_uc010qbj.1_Missense_Mutation_p.Q414P|CELF2_uc001ikk.2_Missense_Mutation_p.Q433P|CELF2_uc001ikl.3_Missense_Mutation_p.Q421P|CELF2_uc010qbl.1_Missense_Mutation_p.Q384P|CELF2_uc010qbm.1_Missense_Mutation_p.Q180P|CELF2_uc001iko.3_Missense_Mutation_p.Q388P|CELF2_uc001ikp.3_Missense_Mutation_p.Q390P|CELF2_uc010qbn.1_Missense_Mutation_p.Q396P|CELF2_uc010qbo.1_Missense_Mutation_p.Q303P|CELF2_uc010qbp.1_Missense_Mutation_p.Q180P	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	408	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						AGCCTGCTGCAGCAGCAGAGC	0.667													C	11363317	A	C	11363317	3	2	166	1	0	0	0	0	1	0	0	0	3216	188	7	5	1373	5	CELF2	10	11363317	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	5295444	11363317	124171430	684	91226											
CUBN	8029	broad.mit.edu	37	chr10	16990509	16990509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaccgtggtgtggaaaCccccagcactgatgctagaa	13	11	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:16990509C>T	uc001ioo.2	-	35	5229	c.5177G>A	c.(5176-5178)GGT>GAT	p.G1726D		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1726	CUB 11.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGAAACCCCCAGCACT	0.517													T	16990509	C	T	16990509	3	4	166	1	0	0	0	0	1	0	0	0	4051	507	18	4	5826	4	CUBN	10	16990509	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5627192	16990509	118544238	685	91227											
KIAA1217	56243	broad.mit.edu	37	chr10	24825761	24825761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatgctgagccatcccGggctgacagtcacgttaaag	11	12	2	2	rs145406190		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:24825761G>A	uc001iru.3	+	17	3876	c.3473G>A	c.(3472-3474)CGG>CAG	p.R1158Q	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Missense_Mutation_p.R1122Q|KIAA1217_uc010qcz.1_Missense_Mutation_p.R1123Q|KIAA1217_uc001irw.2_Missense_Mutation_p.R841Q|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.R841Q|KIAA1217_uc001iry.2_Missense_Mutation_p.R841Q	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1158					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GAGCCATCCCGGGCTGACAGT	0.488													A	24825761	G	A	24825761	3	1	166	1	0	0	0	0	1	0	0	0	8216	1116	39	1	3539	1	KIAA1217	10	24825761	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	7835252	24825761	110708986	686	91228											
KIAA1217	56243	broad.mit.edu	37	chr10	24833919	24833919	+	Frame_Shift_Del	DEL	G	G	-													ccttcccacagggctccagcGgggccccacagacgagcagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:24833918_24833918CG>C	uc001iru.4	+	19	5623	c.5220_5220CG>C	c.(5218-5220)agcfs	p.S1740fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.S1061fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.S1106fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.S1171fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.S1146fs|KIAA1217_uc001irw.3_Frame_Shift_Del_p.S890fs|KIAA1217_uc001irz.3_Frame_Shift_Del_p.S824fs|KIAA1217_uc001irx.3_Frame_Shift_Del_p.S1423fs|KIAA1217_uc001iry.3_Frame_Shift_Del_p.S864fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1740					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						AGGGCTCCAGCGGGGCCCCAC	0.607													-	24833919	G	-	24833919	7	5	166	1	0	1	0	1	0	0	0	0	8216	1116	39	0	5299	0	KIAA1217	10	24833919	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	8158	24833919	110700828	687	91229											
GPR158	57512	broad.mit.edu	37	chr10	25886723	25886723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctgaaaaaactctatgCccaactggaaatatataaaa	6	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:25886723C>T	uc001isj.2	+	11	2228	c.2168C>T	c.(2167-2169)GCC>GTC	p.A723V	GPR158_uc001isk.2_Missense_Mutation_p.A98V	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	723	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AAACTCTATGCCCAACTGGAA	0.413													T	25886723	C	T	25886723	3	4	166	1	0	0	0	0	1	0	0	0	6663	739	26	2	2210	2	GPR158	10	25886723	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1052804	25886723	109648024	688	91230											
WAC	51322	broad.mit.edu	37	chr10	28908508	28908508	+	Frame_Shift_Del	DEL	A	A	-													attaaggaacttgaaaagctAaaaaatcagaattccttcat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:28908507_28908507TA>T	uc001iuf.3	+	13	2004	c.1916_1916TA>T	c.(1915-1917)ctafs	p.L639fs	WAC_uc001iud.3_Frame_Shift_Del_p.L594fs|WAC_uc001iue.3_Frame_Shift_Del_p.L329fs|WAC_uc001iug.3_Frame_Shift_Del_p.L536fs|WAC_uc001iuh.3_Frame_Shift_Del_p.L590fs	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	639					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	RNA polymerase II core binding|chromatin 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						CTTGAAAAGCTAAAAAATCAG	0.318													-	28908508	A	-	28908508	7	5	166	1	0	1	0	1	0	0	0	0	17244	349	13	0	1971	0	WAC	10	28908508	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	3021785	28908508	106626239	689	91231											
FZD8	8325	broad.mit.edu	37	chr10	35929020	35929020	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgacgctgggcacaagCcacgcggccaggtggaagta	15	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:35929020C>T	uc001iyz.1	-	1	1343	c.1338G>A	c.(1336-1338)TGG>TGA	p.W446*		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	446	Helical; Name=4; (Potential).				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				0						TGGGCACAAGCCACGCGGCCA	0.657													T	35929020	C	T	35929020	4	4	166	1	0	0	0	0	0	1	0	0	6136	740	26	2	750	2	FZD8	10	35929020	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	7020512	35929020	99605727	690	91232											
ZNF248	57209	broad.mit.edu	37	chr10	38120692	38120692	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttagtgagagctgatttttCacagaaggttttcccacatt	8	7	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:38120692C>T	uc001izd.1	-	6	2090	c.1591G>A	c.(1591-1593)GAA>AAA	p.E531K	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.E531K	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	531	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTGATTTTTCACAGAAGGTT	0.433													T	38120692	C	T	38120692	3	4	166	1	0	0	0	0	1	0	0	0	17790	835	29	4	152	4	ZNF248	10	38120692	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2191672	38120692	97414055	691	91233											
ZNF25	219749	broad.mit.edu	37	chr10	38241644	38241644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggctttcccacactccTtacactcatagggtttctcc	5	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:38241644T>G	uc001ize.1	-	6	887	c.782A>C	c.(781-783)AAG>ACG	p.K261T	ZNF25_uc001izf.1_Missense_Mutation_p.K225T	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	261	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CCCACACTCCTTACACTCATA	0.433													G	38241644	T	G	38241644	3	3	166	1	0	0	0	0	1	0	0	0	17791	1609	56	5	592	5	ZNF25	10	38241644	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	120952	38241644	97293103	692	91234											
BMS1	9790	broad.mit.edu	37	chr10	43292210	43292210	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatttgctgacagtgacgaTgaccttgagaggagctcagc	13	9	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:43292210T>C	uc001jaj.2	+	10	1876	c.1518T>C	c.(1516-1518)GAT>GAC	p.D506D		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	506					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						ACAGTGACGATGACCTTGAGA	0.488													C	43292210	T	C	43292210	2	2	166	1	0	0	0	0	0	0	0	1	1472	1461	51	3		3	BMS1	10	43292210	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	5050566	43292210	92242537	693	91235											
ZNF239	8187	broad.mit.edu	37	chr10	44052449	44052449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggtgaatgtgaaggttcGagctctgactgaagcccttc	12	10	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:44052449G>A	uc001jaw.3	-	2	1732	c.1079C>T	c.(1078-1080)TCG>TTG	p.S360L	ZNF239_uc001jax.3_Missense_Mutation_p.S360L|ZNF239_uc009xmj.2_Missense_Mutation_p.S360L|ZNF239_uc009xmk.2_Missense_Mutation_p.S360L	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	360	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						GTGAAGGTTCGAGCTCTGACT	0.542													A	44052449	G	A	44052449	3	1	166	1	0	0	0	0	1	0	0	0	17788	1059	37	1	301	1	ZNF239	10	44052449	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	760239	44052449	91482298	694	91236											
SYT15	83849	broad.mit.edu	37	chr10	46964014	46964015	+	Frame_Shift_Del	DEL	AC	AC	-													catcagagacactttgacaaAcacacctagggaacggtgag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:46964013_46964014AAC>A	uc001jea.3	-	6	1102_1103	c.949_950GTT>T	c.(949-951)tttfs	p.F317fs	SYT15_uc001jdz.2_Frame_Shift_Del_p.F317fs|SYT15_uc001jeb.3_Frame_Shift_Del_p.F195fs|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	317	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CACTTTGACAAACACACCTAGG	0.564													-	46964015	AC	-	46964014	7	5	166	1	0	1	0	1	0	0	0	0	15468	43	2	0	378	0	SYT15	10	46964014	Frame_Shift_Del	DEL	AC	TCGA-CG-4306-01A-01D-1158-08	2911565	46964014	88570733	695	91237											
GPRIN2	9721	broad.mit.edu	37	chr10	46999541	46999541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaaagctgctgaacagCtggctaccaccacctgccat	8	16	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:46999541C>T	uc001jec.2	+	3	796	c.661C>T	c.(661-663)CTG>TTG	p.L221L	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	221											0						TGCTGAACAGCTGGCTACCAC	0.637													T	46999541	C	T	46999541	2	4	166	1	0	0	0	0	0	0	0	1	6730	796	28	2		2	GPRIN2	10	46999541	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	35527	46999541	88535206	696	91238											
PPYR1	5540	broad.mit.edu	37	chr10	47087175	47087175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgacggtctccatcctctCgctcgtcctcgtggccctgg	12	16	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:47087175C>T	uc001jee.2	+	3	811	c.392C>T	c.(391-393)TCG>TTG	p.S131L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.S131L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	131	Helical; Name=3; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						TCCATCCTCTCGCTCGTCCTC	0.577													T	47087175	C	T	47087175	3	4	166	1	0	0	0	0	1	0	0	0	12416	893	31	1	394	1	PPYR1	10	47087175	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	87634	47087175	88447572	697	91239											
RBP3	5949	broad.mit.edu	37	chr10	48389221	48389221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgactgcataaggaaggCgaactcctccgcggccgtgg	14	13	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:48389221C>T	uc001jez.2	-	1	1771	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	553	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ATAAGGAAGGCGAACTCCTCC	0.672													T	48389221	C	T	48389221	3	4	166	1	0	0	0	0	1	0	0	0	13157	768	27	1	2102	1	RBP3	10	48389221	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1302046	48389221	87145526	698	91240											
GDF2	2658	broad.mit.edu	37	chr10	48414123	48414123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagaagggcaggtttcTggaacctggggggacactga	15	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:48414123T>C	uc001jfa.1	-	2	908	c.745A>G	c.(745-747)AGA>GGA	p.R249G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	249					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			ovary(2)|skin(1)	3						GGCAGGTTTCTGGAACCTGGG	0.557													C	48414123	T	C	48414123	3	2	166	1	0	0	0	0	1	0	0	0	6314	1588	55	3	548	3	GDF2	10	48414123	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	24902	48414123	87120624	699	91241											
C10orf72	196740	broad.mit.edu	37	chr10	50315742	50315742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgcccttgatcggagggCtgcagtgtcaagacggagag	15	8	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:50315742C>T	uc001jhf.2	-	2	383	c.354G>A	c.(352-354)CAG>CAA	p.Q118Q	C10orf72_uc001jhh.2_Silent_p.Q118Q	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	118	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						GATCGGAGGGCTGCAGTGTCA	0.607													T	50315742	C	T	50315742	2	4	166	1	0	0	0	0	0	0	0	1	1615	796	28	2		2	C10orf72	10	50315742	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1901619	50315742	85219005	700	91242											
TFAM	7019	broad.mit.edu	37	chr10	60154714	60154714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagcatgctaaagaggaCgaaactcgttatcataatga	8	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:60154714C>T	uc001jkf.2	+	7	753	c.621C>T	c.(619-621)GAC>GAT	p.D207D	TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Silent_p.D175D	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor	207	HMG box 2.				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						CTAAAGAGGACGAAACTCGTT	0.289													T	60154714	C	T	60154714	2	4	166	1	0	0	0	0	0	0	0	1	15783	535	19	1		1	TFAM	10	60154714	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	9838972	60154714	75380033	701	91243											
PHYHIPL	84457	broad.mit.edu	37	chr10	60994193	60994193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattcaaaatcaaaggatcGcattacacactattttattg	6	7	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:60994193G>A	uc001jkk.3	+	2	502	c.236G>A	c.(235-237)CGC>CAC	p.R79H	PHYHIPL_uc001jkl.3_Missense_Mutation_p.R33H|PHYHIPL_uc001jkm.3_Missense_Mutation_p.R53H	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	79	Fibronectin type-III.										0						TCAAAGGATCGCATTACACAC	0.323													A	60994193	G	A	60994193	3	1	166	1	0	0	0	0	1	0	0	0	11867	1087	38	1	274	1	PHYHIPL	10	60994193	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	839479	60994193	74540554	702	91244											
FAM13C	220965	broad.mit.edu	37	chr10	61011260	61011261	+	Frame_Shift_Ins	INS	-	-	A													aaaaagtcaccgttcctgcaINSaaaaattgcagctcattttt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:61011259_61011260C>CA	uc010qif.1	-	12	1841_1842	c.1775_1776G>TG	c.(1774-1776)ttgfs	p.L592fs	FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	0										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						ACCGTTCCTGCAAAAAATTGCA	0.356													A	61011261	-	A	61011260	7	5	166	1	0	1	1	0	0	0	0	0	5454	145	5	0		0	FAM13C	10	61011260	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	17067	61011260	74523487	703	91245											
ANK3	288	broad.mit.edu	37	chr10	61831926	61831926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtttgttaacaatttgcGttctctctcagtcacagaca	7	11	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:61831926G>A	uc001jky.2	-	37	8905	c.8713C>T	c.(8713-8715)CGC>TGC	p.R2905C	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2905					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AACAATTTGCGTTCTCTCTCA	0.358													A	61831926	G	A	61831926	3	1	166	1	0	0	0	0	1	0	0	0	622	1145	40	1	4761	1	ANK3	10	61831926	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	820666	61831926	73702821	704	91246											
EGR2	1959	broad.mit.edu	37	chr10	64573218	64573218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcgaagggcttctcacCggtgtgggtgcggatatggg	18	8	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:64573218C>T	uc010qim.1	-	3	1334	c.1180G>A	c.(1180-1182)GGT>AGT	p.G394S	EGR2_uc010qin.1_Missense_Mutation_p.G344S|EGR2_uc001jmi.2_Missense_Mutation_p.G394S|EGR2_uc010qio.1_Missense_Mutation_p.G407S|EGR2_uc009xph.2_Missense_Mutation_p.G394S	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	394					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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCTTCTCACCGGTGTGGGTG	0.577													T	64573218	C	T	64573218	3	4	166	1	0	0	0	0	1	0	0	0	4972	652	23	1	254	1	EGR2	10	64573218	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2741292	64573218	70961529	705	91247											
EGR2	1959	broad.mit.edu	37	chr10	64573837	64573837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggctgctgacaggaaCgcagaagggtcctggtagag	18	7	0	3	rs144739493	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:64573837C>T	uc010qim.1	-	3	715	c.561G>A	c.(559-561)GCG>GCA	p.A187A	EGR2_uc010qin.1_Silent_p.A137A|EGR2_uc001jmi.2_Silent_p.A187A|EGR2_uc010qio.1_Silent_p.A200A|EGR2_uc009xph.2_Silent_p.A187A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	187					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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTGACAGGAACGCAGAAGGGT	0.627													T	64573837	C	T	64573837	2	4	166	1	0	0	0	0	0	0	0	1	4972	523	19	1		1	EGR2	10	64573837	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	619	64573837	70960910	706	91248											
JMJD1C	221037	broad.mit.edu	37	chr10	64968900	64968900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaggccgatgaggctcTgcactggaaggtctgacagg	15	8	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:64968900T>C	uc001jmn.2	-	9	3090	c.2790A>G	c.(2788-2790)GCA>GCG	p.A930A	JMJD1C_uc001jml.2_Silent_p.A711A|JMJD1C_uc001jmm.2_Silent_p.A642A|JMJD1C_uc010qiq.1_Silent_p.A748A|JMJD1C_uc009xpi.2_Silent_p.A748A|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_5'Flank	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	930					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATGAGGCTCTGCACTGGAAG	0.443													C	64968900	T	C	64968900	2	2	166	1	0	0	0	0	0	0	0	1	7950	1567	55	3		3	JMJD1C	10	64968900	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	395063	64968900	70565847	707	91249											
CTNNA3	29119	broad.mit.edu	37	chr10	69407188	69407188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacctggattatgagaggCtccagtagcttctccacggt	10	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:69407188C>T	uc009xpn.1	-	2	207	c.84G>A	c.(82-84)GAG>GAA	p.E28E	CTNNA3_uc001jmw.2_Silent_p.E28E|CTNNA3_uc001jmx.3_Silent_p.E28E|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.E40E	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	28					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTATGAGAGGCTCCAGTAGCT	0.383													T	69407188	C	T	69407188	2	4	166	1	0	0	0	0	0	0	0	1	4014	796	28	2		2	CTNNA3	10	69407188	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4438288	69407188	66127559	708	91250											
HERC4	26091	broad.mit.edu	37	chr10	69804277	69804277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtatgagcttctccacaTgaaacagctacaatattttg	6	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:69804277T>C	uc001jng.3	-	4	581	c.270A>G	c.(268-270)TCA>TCG	p.S90S	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.S90S|HERC4_uc009xpr.2_Silent_p.S90S|HERC4_uc001jni.3_Intron|HERC4_uc001jnj.2_Silent_p.S90S	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	90	RCC1 2.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						CTTCTCCACATGAAACAGCTA	0.433													C	69804277	T	C	69804277	2	2	166	1	0	0	0	0	0	0	0	1	7060	1451	51	3		3	HERC4	10	69804277	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	397089	69804277	65730470	709	91251											
ATOH7	220202	broad.mit.edu	37	chr10	69991318	69991318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccgccaggcgcctgcgCgccgcgctctccagccgccc	13	21	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:69991318C>T	uc001jnq.2	-	1	538	c.117G>A	c.(115-117)GCG>GCA	p.A39A		NM_145178	NP_660161	Q8N100	ATOH7_HUMAN	atonal homolog 7	39					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						GGCGCCTGCGCGCCGCGCTCT	0.801													T	69991318	C	T	69991318	2	4	166	1	0	0	0	0	0	0	0	1	1113	755	27	1		1	ATOH7	10	69991318	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	187041	69991318	65543429	710	91252											
H2AFY2	55506	broad.mit.edu	37	chr10	71851564	71851564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctgcccagaattcacCccgaactgctggccaaaaag	9	15	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:71851564C>T	uc001jqm.2	+	4	790	c.331C>T	c.(331-333)CCC>TCC	p.P111S	H2AFY2_uc001jqn.2_RNA	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	111	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						CAGAATTCACCCCGAACTGCT	0.557													T	71851564	C	T	71851564	3	4	166	1	0	0	0	0	1	0	0	0	6930	623	22	4	341	4	H2AFY2	10	71851564	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1860246	71851564	63683183	711	91253											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511949	72511949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcccaagcccatccgcCggcgctgcaaccagcacccg	11	19	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:72511949C>T	uc001jrh.2	+	18	2695	c.2695C>T	c.(2695-2697)CGG>TGG	p.R899W	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R902W	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	899	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCCCATCCGCCGGCGCTGCAA	0.657													T	72511949	C	T	72511949	3	4	166	1	0	0	0	0	1	0	0	0	259	643	23	1	2774	1	ADAMTS14	10	72511949	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	660385	72511949	63022798	712	91254											
UNC5B	219699	broad.mit.edu	37	chr10	73047450	73047450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggacctgcaccaaccccGctccactcaacggaggggcc	10	20	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:73047450G>A	uc001jro.2	+	6	1274	c.829G>A	c.(829-831)GCT>ACT	p.A277T	UNC5B_uc001jrp.2_Missense_Mutation_p.A277T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	277	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CACCAACCCCGCTCCACTCAA	0.662													A	73047450	G	A	73047450	3	1	166	1	0	0	0	0	1	0	0	0	16989	1087	38	1	851	1	UNC5B	10	73047450	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	535501	73047450	62487297	713	91255											
DUPD1	338599	broad.mit.edu	37	chr10	76803595	76803595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgatgaaggctgccgcCgggtagaagaagacactgag	15	9	0	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:76803595C>T	uc001jwq.1	-	2	381	c.381G>A	c.(379-381)CCG>CCA	p.P127P		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	127	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGGCTGCCGCCGGGTAGAAGA	0.483													T	76803595	C	T	76803595	2	4	166	1	0	0	0	0	0	0	0	1	4804	639	23	1		1	DUPD1	10	76803595	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3756145	76803595	58731152	714	91256											
MAT1A	4143	broad.mit.edu	37	chr10	82034359	82034359	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctgagaggttccgtaGgtgaagatggaaatggacag	15	5	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:82034359G>T	uc001kbw.2	-	8	1257	c.1002C>A	c.(1000-1002)ACC>ACA	p.T334T		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	334					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGTTCCGTAGGTGAAGATGG	0.572													T	82034359	G	T	82034359	2	4	166	1	0	0	0	0	0	0	0	1	9329	987	35	5		5	MAT1A	10	82034359	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5230764	82034359	53500388	715	91257											
MMRN2	79812	broad.mit.edu	37	chr10	88696544	88696544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatgcagtgcccgacaGgcttctctttgttattgatc	8	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:88696544G>T	uc001kea.2	-	7	2933	c.2806C>A	c.(2806-2808)CTG>ATG	p.L936M	MMRN2_uc010qmn.1_Missense_Mutation_p.L579M	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	936	C1q.					extracellular space				large_intestine(1)	1						GTGCCCGACAGGCTTCTCTTT	0.552													T	88696544	G	T	88696544	3	4	166	1	0	0	0	0	1	0	0	0	9671	991	35	5	47	5	MMRN2	10	88696544	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6662185	88696544	46838203	716	91258											
RNLS	55328	broad.mit.edu	37	chr10	90122398	90122398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagggacatcaatcttcGtaccagcttcataaaagagg	8	11	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:90122398G>A	uc001kfe.2	-	5	746	c.611C>T	c.(610-612)ACG>ATG	p.T204M	RNLS_uc010qms.1_Missense_Mutation_p.T121M|RNLS_uc001kfd.2_Missense_Mutation_p.T204M|RNLS_uc009xtj.2_Missense_Mutation_p.T36M	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	204						extracellular region	oxidoreductase activity			ovary(1)	1						ATCAATCTTCGTACCAGCTTC	0.468													A	90122398	G	A	90122398	3	1	166	1	0	0	0	0	1	0	0	0	13505	1145	40	1	505	1	RNLS	10	90122398	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1425854	90122398	45412349	717	91259											
PANK1	53354	broad.mit.edu	37	chr10	91353042	91353042	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgaggtcttccttgctgatgGaatctcgcttttctttactc	8	11	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:91353042G>C	uc001kgp.1	-	5	1679	c.1523C>G	c.(1522-1524)TCC>TGC	p.S508C	PANK1_uc001kgn.1_Missense_Mutation_p.S283C|PANK1_uc001kgo.1_Missense_Mutation_p.S224C|PANK1_uc009xtu.1_Missense_Mutation_p.S310C|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	508					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	CTTGCTGATGGAATCTCGCTT	0.502													C	91353042	G	C	91353042	3	2	166	1	0	0	0	0	1	0	0	0	11416	1174	41	5	285	5	PANK1	10	91353042	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1230644	91353042	44181705	718	91260											
PPP1R3C	5507	broad.mit.edu	37	chr10	93390388	93390388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcagcaaacacaacgcGcttcttggcttggttgtgtg	13	9	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:93390388G>A	uc001kho.2	-	2	382	c.250C>T	c.(250-252)CGC>TGC	p.R84C		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	84							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				AACACAACGCGCTTCTTGGCT	0.458													A	93390388	G	A	93390388	3	1	166	1	0	0	0	0	1	0	0	0	12373	1087	38	1	707	1	PPP1R3C	10	93390388	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2037346	93390388	42144359	719	91261											
PDE6C	5146	broad.mit.edu	37	chr10	95381733	95381733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgaagaactcacagaTgttgagcgacagtttcacaa	9	7	2	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:95381733T>C	uc001kiu.3	+	4	906	c.768T>C	c.(766-768)GAT>GAC	p.D256D		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	256	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				AACTCACAGATGTTGAGCGAC	0.398													C	95381733	T	C	95381733	2	2	166	1	0	0	0	0	0	0	0	1	11647	1461	51	3		3	PDE6C	10	95381733	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1991345	95381733	40153014	720	91262											
HELLS	3070	broad.mit.edu	37	chr10	96352051	96352052	+	Frame_Shift_Ins	INS	-	-	A													atcgaatgctgccagaactaINSaaaaaaagaggtcacaaggt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:96352050_96352051T>TA	uc009xuo.3	+	16	2075_2076	c.1970_1971T>TA	c.(1969-1971)ctafs	p.L657fs	HELLS_uc001kjs.3_Frame_Shift_Ins_p.L595fs|HELLS_uc001kjt.3_Frame_Shift_Ins_p.L611fs|HELLS_uc009xul.3_Frame_Shift_Ins_p.L513fs|HELLS_uc009xum.3_Frame_Shift_Ins_p.L481fs|HELLS_uc009xun.3_Frame_Shift_Ins_p.L487fs|HELLS_uc001kju.3_Frame_Shift_Ins_p.L250fs|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Frame_Shift_Ins_p.L473fs|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	611	Helicase C-terminal.				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)		CTGCCAGAACTAAAAAAAAGAG	0.312													A	96352052	-	A	96352051	7	5	166	1	0	1	1	0	0	0	0	0	7046	349	13	0	1895	0	HELLS	10	96352051	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	970318	96352051	39182696	721	91263											
BLNK	29760	broad.mit.edu	37	chr10	97987263	97987263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcagcgttctcctcGgcgggcatcacgtacatctc	9	15	5	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:97987263G>A	uc001kls.3	-	5	442	c.264C>T	c.(262-264)GCC>GCT	p.A88A	BLNK_uc001kme.3_Silent_p.A6A|BLNK_uc001klt.3_Silent_p.A6A|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.A6A|BLNK_uc001klv.3_Silent_p.A88A|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.A88A|BLNK_uc001kly.3_Silent_p.A88A|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.A88A|BLNK_uc001kmb.3_5'UTR|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.A6A|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	88					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			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CGTTCTCCTCGGCGGGCATCA	0.582													A	97987263	G	A	97987263	2	1	166	1	0	0	0	0	0	0	0	1	1447	1103	39	1		1	BLNK	10	97987263	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1635212	97987263	37547484	722	91264											
HPS1	3257	broad.mit.edu	37	chr10	100185361	100185361	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctggcgcaggtctcccacGaggggctgggagcgcaggga	18	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:100185361G>A	uc010qpf.1	-	13	1518	c.1272C>T	c.(1270-1272)CTC>CTT	p.L424L	HPS1_uc001kpi.1_Silent_p.L424L|HPS1_uc001kpj.1_Silent_p.L331L|HPS1_uc001kpk.1_Silent_p.L248L|HPS1_uc010qpg.1_Silent_p.L44L|HPS1_uc009xwb.2_RNA	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	424					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGTCTCCCACGAGGGGCTGGG	0.622									Hermansky-Pudlak_syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	100185361	G	A	100185361	2	1	166	1	0	0	0	0	0	0	0	1	7339	1045	37	1		1	HPS1	10	100185361	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2198098	100185361	35349386	723	91265											
DNMBP	23268	broad.mit.edu	37	chr10	101639896	101639896	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacattcttttggcggaggaGatgcatcttgaggctgcttc	12	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:101639896G>T	uc001kqj.2	-	16	4312	c.4220C>A	c.(4219-4221)TCT>TAT	p.S1407Y	DNMBP_uc010qpl.1_Missense_Mutation_p.S343Y|DNMBP_uc001kqg.2_Missense_Mutation_p.S695Y|DNMBP_uc001kqh.2_Missense_Mutation_p.S1039Y	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1407	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGCGGAGGAGATGCATCTTG	0.542													T	101639896	G	T	101639896	3	4	166	1	0	0	0	0	1	0	0	0	4674	942	33	5	521	5	DNMBP	10	101639896	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1454535	101639896	33894851	724	91266											
HPS6	79803	broad.mit.edu	37	chr10	103826053	103826053	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtacacacctgggcCccaactccccagggcctgct	10	18	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:103826053C>A	uc001kuj.2	+	1	907	c.822C>A	c.(820-822)GCC>GCA	p.A274A		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	274						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACACCTGGGCCCCAACTCCCC	0.657									Hermansky-Pudlak_syndrome				A	103826053	C	A	103826053	2	1	166	1	0	0	0	0	0	0	0	1	7343	610	22	5		5	HPS6	10	103826053	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2186157	103826053	31708694	725	91267											
TDRD1	56165	broad.mit.edu	37	chr10	115981158	115981158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgatagaattgccagTggataaaactatacaagcaa	9	6	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:115981158T>C	uc001lbg.1	+	20	2966	c.2813T>C	c.(2812-2814)GTG>GCG	p.V938A	TDRD1_uc001lbf.2_Missense_Mutation_p.V815A|TDRD1_uc001lbh.1_Missense_Mutation_p.V925A|TDRD1_uc001lbi.1_Missense_Mutation_p.V929A|TDRD1_uc010qsc.1_Missense_Mutation_p.V542A|TDRD1_uc001lbj.2_Missense_Mutation_p.V647A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	938					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				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAATTGCCAGTGGATAAAACT	0.368													C	115981158	T	C	115981158	3	2	166	1	0	0	0	0	1	0	0	0	15727	1696	59	3	2887	3	TDRD1	10	115981158	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	12155105	115981158	19553589	726	91268											
C10orf46	143384	broad.mit.edu	37	chr10	120460856	120460856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttctgcaacatgttccGtaaacagctttataaggtca	7	9	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:120460856G>A	uc001lds.1	-	5	1242	c.758C>T	c.(757-759)ACG>ATG	p.T253M	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	253					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		AACATGTTCCGTAAACAGCTT	0.303													A	120460856	G	A	120460856	3	1	166	1	0	0	0	0	1	0	0	0	1604	1145	40	1	371	1	C10orf46	10	120460856	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4479698	120460856	15073891	727	91269											
PRDX3	10935	broad.mit.edu	37	chr10	120928781	120928781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcggagggtttcttccaCgcttcggcccactgggagat	13	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:120928781C>T	uc001lec.2	-	6	668	c.625G>A	c.(625-627)GTG>ATG	p.V209M		NM_006793	NP_006784	P30048	PRDX3_HUMAN	peroxiredoxin 3 isoform a precursor	209	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		GTTTCTTCCACGCTTCGGCCC	0.502													T	120928781	C	T	120928781	3	4	166	1	0	0	0	0	1	0	0	0	12466	536	19	1	153	1	PRDX3	10	120928781	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	467925	120928781	14605966	728	91270											
INPP5F	22876	broad.mit.edu	37	chr10	121551681	121551682	+	Frame_Shift_Ins	INS	-	-	T													tttctaggttgatgaccgatINSttttttggaataaatacatg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:121551680_121551681A>AT	uc001leo.3	+	5	840_841	c.624_625A>AT	c.(622-627)cgatttfs	p.R208fs	INPP5F_uc001len.4_3'UTR	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	208	SAC.						phosphoric ester hydrolase activity	p.R208Q(1)|p.W211fs*3(1)		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)		TTGATGACCGATTTTTTTGGAA	0.351													T	121551682	-	T	121551681	7	5	166	1	0	1	1	0	0	0	0	0	7758	1493	52	0	647	0	INPP5F	10	121551681	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	622900	121551681	13983066	729	91271											
CPXM2	119587	broad.mit.edu	37	chr10	125601919	125601919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaatctggtcaggcgcCgagcatccacttcaatccac	9	14	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:125601919C>T	uc001lhk.1	-	4	924	c.599G>A	c.(598-600)CGG>CAG	p.R200Q	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	200	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		GGTCAGGCGCCGAGCATCCAC	0.498													T	125601919	C	T	125601919	3	4	166	1	0	0	0	0	1	0	0	0	3838	652	23	1	1715	1	CPXM2	10	125601919	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4050238	125601919	9932828	730	91272											
CHST15	51363	broad.mit.edu	37	chr10	125805706	125805706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgggtaacagctgtatgCagcaattaatgcagtgcctc	11	10	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:125805706C>T	uc001lhl.2	-	1	536	c.23G>A	c.(22-24)TGC>TAC	p.C8Y	CHST15_uc001lhm.2_Missense_Mutation_p.C8Y|CHST15_uc001lhn.2_Missense_Mutation_p.C8Y|CHST15_uc010que.1_Missense_Mutation_p.C8Y|CHST15_uc001lho.2_Missense_Mutation_p.C8Y	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	8	Cytoplasmic (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						CAGCTGTATGCAGCAATTAAT	0.617													T	125805706	C	T	125805706	3	4	166	1	0	0	0	0	1	0	0	0	3403	710	25	2	1690	2	CHST15	10	125805706	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	203787	125805706	9729041	731	91273											
LHPP	64077	broad.mit.edu	37	chr10	126172753	126172753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttctgcaccaacgagtcGcagaagtcccgggcagagct	13	12	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:126172753G>A	uc001lhs.1	+	2	191	c.171G>A	c.(169-171)TCG>TCA	p.S57S	LHPP_uc001lht.1_Silent_p.S57S|LHPP_uc009yai.1_Silent_p.S57S	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	57					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		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;0.163)|Colorectal(40;0.187)		CCAACGAGTCGCAGAAGTCCC	0.642													A	126172753	G	A	126172753	2	1	166	1	0	0	0	0	0	0	0	1	8769	1074	38	1		1	LHPP	10	126172753	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	367047	126172753	9361994	732	91274											
C10orf137	26098	broad.mit.edu	37	chr10	127436239	127436239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcaagattatgctccGttatctagaaaagctcagga	8	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:127436239G>A	uc001liq.1	+	20	3242	c.2949G>A	c.(2947-2949)CCG>CCA	p.P983P	C10orf137_uc001lin.2_Silent_p.P949P|C10orf137_uc001lio.1_Silent_p.P949P|C10orf137_uc001lip.1_Silent_p.P687P|C10orf137_uc001lis.1_Silent_p.P309P|C10orf137_uc001lit.1_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTATGCTCCGTTATCTAGAA	0.388													A	127436239	G	A	127436239	2	1	166	1	0	0	0	0	0	0	0	1	1594	1132	40	1		1	C10orf137	10	127436239	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1263486	127436239	8098508	733	91275											
FAM196A	642938	broad.mit.edu	37	chr10	128974523	128974523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatatccttaaaccgcaccTgcagggctttgttccgtttt	8	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:128974523T>C	uc001lju.1	-	1	178	c.137A>G	c.(136-138)CAG>CGG	p.Q46R	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.Q46R|FAM196A_uc001ljv.1_Missense_Mutation_p.Q46R|FAM196A_uc009yap.1_Missense_Mutation_p.Q46R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	46										ovary(2)	2						AAACCGCACCTGCAGGGCTTT	0.607													C	128974523	T	C	128974523	3	2	166	1	0	0	0	0	1	0	0	0	5528	1580	55	3	1314	3	FAM196A	10	128974523	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1538284	128974523	6560224	734	91276											
CLRN3	119467	broad.mit.edu	37	chr10	129676427	129676427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaattcagaataaaattcCgtcccttggagcatattcca	7	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:129676427C>T	uc001lka.1	-	3	830	c.667G>A	c.(667-669)GGA>AGA	p.G223R	CLRN3_uc001ljz.1_Missense_Mutation_p.G155R	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	223						integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AATAAAATTCCGTCCCTTGGA	0.418													T	129676427	C	T	129676427	3	4	166	1	0	0	0	0	1	0	0	0	3559	661	23	1	17	1	CLRN3	10	129676427	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	701904	129676427	5858320	735	91277											
MKI67	4288	broad.mit.edu	37	chr10	129904057	129904057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgtctgtgtgagcttgCcgactggtaggacctcttct	12	11	3	2	rs150525316		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:129904057C>T	uc001lke.2	-	13	6242	c.6047G>A	c.(6046-6048)GGC>GAC	p.G2016D	MKI67_uc001lkf.2_Missense_Mutation_p.G1656D|MKI67_uc009yav.1_Missense_Mutation_p.G1591D|MKI67_uc009yaw.1_Missense_Mutation_p.G1166D	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2016	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TGTGAGCTTGCCGACTGGTAG	0.498													T	129904057	C	T	129904057	3	4	166	1	0	0	0	0	1	0	0	0	9598	739	26	2	3735	2	MKI67	10	129904057	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	227630	129904057	5630690	736	91278											
MKI67	4288	broad.mit.edu	37	chr10	129905112	129905113	+	Frame_Shift_Ins	INS	-	-	TG													taccatctcctgttggctctINSgtgtgtgtgtgtgtagtctc					rs145960091	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:129905111_129905112C>CTG	uc001lke.3	-	12	5187_5188	c.4992_4993G>CAG	c.(4990-4995)acagagfs	p.T1664fs	MKI67_uc001lkf.3_Frame_Shift_Ins_p.T1304fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1239fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T814fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1664	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)				CCTGTTGGCTCTGTGTGTGTGT	0.51													TG	129905113	-	TG	129905112	7	5	166	1	0	1	1	0	0	0	0	0	9598	1567	55	0	4790	0	MKI67	10	129905112	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1055	129905112	5629635	737	91279											
KNDC1	85442	broad.mit.edu	37	chr10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccaagacctcgaggCgctgctgagccggatgcagg	16	12	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:134996942C>T	uc001llz.1	+	4	456	c.455C>T	c.(454-456)GCG>GTG	p.A152V	KNDC1_uc001lma.1_Missense_Mutation_p.A87V	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	152	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		GACCTCGAGGCGCTGCTGAGC	0.697													T	134996942	C	T	134996942	3	4	166	1	0	0	0	0	1	0	0	0	8426	768	27	1	469	1	KNDC1	10	134996942	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5091830	134996942	537805	738	91280											
KNDC1	85442	broad.mit.edu	37	chr10	135026413	135026413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcttcagccagctcaCgctgctacagcaggtgagga	11	14	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:135026413C>T	uc001llz.1	+	24	4431	c.4430C>T	c.(4429-4431)ACG>ATG	p.T1477M		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1477	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		AGCCAGCTCACGCTGCTACAG	0.647													T	135026413	C	T	135026413	3	4	166	1	0	0	0	0	1	0	0	0	8426	536	19	1	4524	1	KNDC1	10	135026413	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	29471	135026413	508334	739	91281											
MTG1	92170	broad.mit.edu	37	chr10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-													ctcgacgtcctgcggggccaCcccccggctgagactttgcc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:135233644_135233644AC>A	uc001lnd.3	+	10	1084	c.980_980AC>A	c.(979-981)cacfs	p.H327fs	MTG1_uc010qve.2_Frame_Shift_Del_p.H192fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	327						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTGCGGGGCCACCCCCCGGCT	0.642													-	135233645	C	-	135233645	7	5	166	1	0	1	0	1	0	0	0	0	9926	506	18	0	1023	0	MTG1	10	135233645	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	207232	135233645	301102	740	91282											
RIC8A	60626	broad.mit.edu	37	chr11	214277	214277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccccggggtcatcttaCgtccctgcaggatgccatgt	12	13	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:214277C>T	uc001log.2	+	10	1848	c.1523C>T	c.(1522-1524)ACG>ATG	p.T508M	RIC8A_uc001lof.2_Missense_Mutation_p.T514M|RIC8A_uc001loh.2_Missense_Mutation_p.T501M	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	508						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGTCATCTTACGTCCCTGCAG	0.537													T	214277	C	T	214277	3	4	166	1	0	0	0	0	1	0	0	0	13355	536	19	1	1579	1	RIC8A	11	214277	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08		214277	134792239	741	91283											
CDHR5	53841	broad.mit.edu	37	chr11	618807	618807	+	Frame_Shift_Del	DEL	G	G	-													gaggtgctggttcccatactGgggggcatcggctgagaggt					rs146283589		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:618806_618806TG>T	uc001lql.3	-	12	2020	c.1753_1753CA>A	c.(1753-1755)agtfs	p.S585fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Del_p.S585fs|CDHR5_uc009ycd.3_Frame_Shift_Del_p.S579fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Del_p.S419fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	585	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S585G(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTTCCCATACTGGGGGGCATC	0.682													-	618807	G	-	618807	7	5	166	1	0	1	0	1	0	0	0	0	3122	1335	47	0	797	0	CDHR5	11	618807	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	404530	618807	134387709	742	91284											
CDHR5	53841	broad.mit.edu	37	chr11	618999	618999	+	Frame_Shift_Del	DEL	C	C	-													ctgttttctgcacccgggggCcccccgggtgtggacgaggt					rs2740375	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:618998_618998GC>G	uc001lql.3	-	12	1828	c.1561_1561GC>C	c.(1561-1563)cccfs	p.P521fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Del_p.P521fs|CDHR5_uc009ycd.3_Frame_Shift_Del_p.P515fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Del_p.P355fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	521			P -> S (in dbSNP:rs2740375).		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P521P(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCACCCGGGGGCCCCCCGGGT	0.682													-	618999	C	-	618999	7	5	166	1	0	1	0	1	0	0	0	0	3122	726	26	0	989	0	CDHR5	11	618999	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	192	618999	134387517	743	91285											
CEND1	51286	broad.mit.edu	37	chr11	788202	788202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacacccccagccaccagCagggggttgaagttctcaca	10	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:788202C>T	uc001lrh.1	-	2	554	c.375G>A	c.(373-375)CTG>CTA	p.L125L		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	125	Cytoplasmic (Potential).					integral to membrane					0		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;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)		CAGCCACCAGCAGGGGGTTGA	0.677													T	788202	C	T	788202	2	4	166	1	0	0	0	0	0	0	0	1	3225	697	25	2		2	CEND1	11	788202	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	169203	788202	134218314	744	91286											
MUC6	4588	broad.mit.edu	37	chr11	1016104	1016104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggatggggtgggagacaCggtaacagtggatatgggga	20	4	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1016104C>T	uc001lsw.2	-	31	6748	c.6697G>A	c.(6697-6699)GTG>ATG	p.V2233M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2233	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GTGGGAGACACGGTAACAGTG	0.597													T	1016104	C	T	1016104	3	4	166	1	0	0	0	0	1	0	0	0	9980	536	19	1	634	1	MUC6	11	1016104	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	227902	1016104	133990412	745	91287											
MUC6	4588	broad.mit.edu	37	chr11	1025025	1025025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccacgtacctgctgcgcGtctcgaagtcgtccttcatg	10	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1025025G>A	uc001lsw.2	-	24	3095	c.3044C>T	c.(3043-3045)ACG>ATG	p.T1015M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1015	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		CCTGCTGCGCGTCTCGAAGTC	0.637													A	1025025	G	A	1025025	3	1	166	1	0	0	0	0	1	0	0	0	9980	1145	40	1	4315	1	MUC6	11	1025025	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	8921	1025025	133981491	746	91288											
MUC2	4583	broad.mit.edu	37	chr11	1090915	1090915	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctgaccaccttcaccacCatcaccctccccaccacccc	1	26	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1090915C>A	uc001lsx.1	+	28	3837	c.3810C>A	c.(3808-3810)ACC>ACA	p.T1270T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1270						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	ccttcaccaccatcaccctcc	0.398													A	1090915	C	A	1090915	2	1	166	1	0	0	0	0	0	0	0	1	9975	581	21	5		5	MUC2	11	1090915	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	65890	1090915	133915601	747	91289											
TNNI2	7136	broad.mit.edu	37	chr11	1862321	1862321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaagcggcccccactgCggagggtgcgcatgtcggcc	15	14	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1862321C>T	uc010qxe.1	+	5	359	c.337C>T	c.(337-339)CGG>TGG	p.R113W	TNNI2_uc010qxc.1_Missense_Mutation_p.R111W|TNNI2_uc010qxd.1_Missense_Mutation_p.R111W	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	113	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				0		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)		GCCCCCACTGCGGAGGGTGCG	0.637													T	1862321	C	T	1862321	3	4	166	1	0	0	0	0	1	0	0	0	16324	759	27	1	374	1	TNNI2	11	1862321	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	771406	1862321	133144195	748	91290											
CD81	975	broad.mit.edu	37	chr11	2415337	2415337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaaggcatctacatccTcatcgctgtgggcgctgtca	10	15	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:2415337T>G	uc001lwf.1	+	3	427	c.194T>G	c.(193-195)CTC>CGC	p.L65R	CD81_uc001lwg.1_Missense_Mutation_p.L58R|CD81_uc001lwh.1_5'Flank	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	65	Helical; (Potential).				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				0		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)		ATCTACATCCTCATCGCTGTG	0.647													G	2415337	T	G	2415337	3	3	166	1	0	0	0	0	1	0	0	0	3039	1551	54	5	204	5	CD81	11	2415337	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	553016	2415337	132591179	749	91291											
KCNQ1	3784	broad.mit.edu	37	chr11	2798261	2798261	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgttcatctccgtctcAggtgggtttctgtgtcagtt	10	10	6	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:2798261A>C	uc001lwn.2	+	14	1839	c.1731A>C	c.(1729-1731)TCA>TCC	p.S577S	KCNQ1_uc009ydp.1_Silent_p.S361S|KCNQ1_uc001lwo.2_Silent_p.S450S	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	577	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		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)	TCTCCGTCTCAGGTGGGTTTC	0.592													C	2798261	A	C	2798261	2	2	166	1	0	0	0	0	0	0	0	1	8082	202	7	5		5	KCNQ1	11	2798261	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	382924	2798261	132208255	750	91292											
MRGPRE	116534	broad.mit.edu	37	chr11	3249839	3249839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagatccgcgcaggccacgTccaggaggtagatggcgaag	16	10	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:3249839T>C	uc001lxq.3	-	2	498	c.188A>G	c.(187-189)GAC>GGC	p.D63G		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	63	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGCCACGTCCAGGAGGTA	0.647													C	3249839	T	C	3249839	3	2	166	1	0	0	0	0	1	0	0	0	9764	1667	58	3	751	3	MRGPRE	11	3249839	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	451578	3249839	131756677	751	91293											
OR51I1	390063	broad.mit.edu	37	chr11	5461995	5461995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcacataaaaggccagCactgcacagatgtgtgacat	11	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:5461995C>T	uc010qze.1	-	1	750	c.750G>A	c.(748-750)GTG>GTA	p.V250V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGGCCAGCACTGCACAGA	0.493													T	5461995	C	T	5461995	2	4	166	1	0	0	0	0	0	0	0	1	11100	697	25	2		2	OR51I1	11	5461995	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2212156	5461995	129544521	752	91294											
OR52E8	390079	broad.mit.edu	37	chr11	5878912	5878912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaactgggtgtgattagaCgtagacattcttcctgccat	11	8	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:5878912C>T	uc010qzr.1	-	1	21	c.21G>A	c.(19-21)ACG>ACA	p.T7T	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		TGTGATTAGACGTAGACATTC	0.418													T	5878912	C	T	5878912	2	4	166	1	0	0	0	0	0	0	0	1	11118	523	19	1		1	OR52E8	11	5878912	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	416917	5878912	129127604	753	91295											
TRIM3	10612	broad.mit.edu	37	chr11	6477697	6477697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggcaggtcccccggaCgcagggcacgcacgcggaag	17	13	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:6477697C>T	uc001mdh.2	-	7	1646	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	TRIM3_uc001mdi.2_Missense_Mutation_p.R420H|TRIM3_uc010raj.1_Missense_Mutation_p.R301H|TRIM3_uc009yfd.2_Missense_Mutation_p.R420H|TRIM3_uc010rak.1_Missense_Mutation_p.R420H|TRIM3_uc001mdj.2_Missense_Mutation_p.R301H	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	420					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		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)		GTCCCCCGGACGCAGGGCACG	0.701													T	6477697	C	T	6477697	3	4	166	1	0	0	0	0	1	0	0	0	16501	536	19	1	1003	1	TRIM3	11	6477697	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	598785	6477697	128528819	754	91296											
NLRP14	338323	broad.mit.edu	37	chr11	7065142	7065142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagcactgccggtgtttgCggaccatcaggctgtctgta	12	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:7065142C>T	uc001mfb.1	+	4	2208	c.1885C>T	c.(1885-1887)CGG>TGG	p.R629W		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	629					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCGGTGTTTGCGGACCATCAG	0.423													T	7065142	C	T	7065142	3	4	166	1	0	0	0	0	1	0	0	0	10476	759	27	1	1895	1	NLRP14	11	7065142	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	587445	7065142	127941374	755	91297											
LMO1	4004	broad.mit.edu	37	chr11	8248584	8248584	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgttgtcccgggcccgcatCaccatctcgaaggctgggat	12	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:8248584C>T	uc001mgg.1	-	3	800	c.303G>A	c.(301-303)GTG>GTA	p.V101V	LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Silent_p.V100V	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	101	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GGGCCCGCATCACCATCTCGA	0.617			T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							T	8248584	C	T	8248584	2	4	166	1	0	0	0	0	0	0	0	1	8851	813	29	4		4	LMO1	11	8248584	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1183442	8248584	126757932	756	91298											
SWAP70	23075	broad.mit.edu	37	chr11	9746422	9746422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgaacttatattagatgTgttaaagcaggtaagaattc	8	3	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:9746422T>C	uc001mhw.2	+	4	731	c.632T>C	c.(631-633)GTG>GCG	p.V211A	SWAP70_uc001mhv.2_Missense_Mutation_p.V211A|SWAP70_uc001mhx.2_Missense_Mutation_p.V153A	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	SWAP-70 protein	211	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			ovary(2)|central_nervous_system(1)	3				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ATATTAGATGTGTTAAAGCAG	0.308													C	9746422	T	C	9746422	3	2	166	1	0	0	0	0	1	0	0	0	15422	1696	59	3	646	3	SWAP70	11	9746422	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1497838	9746422	125260094	757	91299											
CALCA	796	broad.mit.edu	37	chr11	14991505	14991505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccctctctctcttgctccTgctccagctcactggccttc	6	19	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:14991505T>A	uc001mlt.1	-	3	278	c.203A>T	c.(202-204)CAG>CTG	p.Q68L	CALCA_uc001mlu.1_RNA|CALCA_uc001mlv.1_Missense_Mutation_p.Q68L|CALCA_uc001mlw.1_Missense_Mutation_p.Q68L	NM_001033953	NP_001029125	P06881	CALCA_HUMAN	calcitonin isoform CGRP preproprotein	68					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)	1					Phentolamine(DB00692)	CTCTTGCTCCTGCTCCAGCTC	0.637											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14991505	T	A	14991505	3	1	166	1	0	0	0	0	1	0	0	0	2575	1580	55	5	394	5	CALCA	11	14991505	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	5245083	14991505	120015011	758	91300											
SOX6	55553	broad.mit.edu	37	chr11	16071413	16071413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggttctgggtgggagaCgttggggactttacaggctc	17	6	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:16071413C>T	uc001mme.2	-	11	1395	c.1362G>A	c.(1360-1362)ACG>ACA	p.T454T	SOX6_uc001mmd.2_Silent_p.T403T|SOX6_uc001mmf.2_Silent_p.T400T|SOX6_uc001mmg.2_Silent_p.T441T	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	441					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GGGTGGGAGACGTTGGGGACT	0.507													T	16071413	C	T	16071413	2	4	166	1	0	0	0	0	0	0	0	1	14955	523	19	1		1	SOX6	11	16071413	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1079908	16071413	118935103	759	91301											
MYOD1	4654	broad.mit.edu	37	chr11	17741309	17741309	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggcgaagccaggaccGtgccgcgccaccgccaggat	16	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:17741309G>A	uc001mni.2	+	1	200	c.-20G>A	c.(-22--18)CCGTG>CCATG			NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1						muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						AGCCAGGACCGTGCCGCGCCA	0.652													A	17741309	G	A	17741309	1	1	166	1	0	0	0	0	0	0	0	0	10088	1160	40	1		1	MYOD1	11	17741309	Translation_Start_Site	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1669896	17741309	117265207	760	91302											
KCNC1	3746	broad.mit.edu	37	chr11	17793913	17793913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtgtgcgctggcgggCgtgctcaccatcgccatgcc	14	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:17793913C>T	uc001mnk.3	+	2	1327	c.1272C>T	c.(1270-1272)GGC>GGT	p.G424G	KCNC1_uc009yhc.1_Silent_p.G424G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	424	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CGCTGGCGGGCGTGCTCACCA	0.572													T	17793913	C	T	17793913	2	4	166	1	0	0	0	0	0	0	0	1	8014	755	27	1		1	KCNC1	11	17793913	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	52604	17793913	117212603	761	91303											
LDHC	3948	broad.mit.edu	37	chr11	18436832	18436832	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttttctttagtacttcaaaGattacttctggaaaaggtta	6	6	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:18436832G>T	uc001mon.3	+	3	340	c.228G>T	c.(226-228)AAG>AAT	p.K76N	LDHC_uc001mom.3_Missense_Mutation_p.K76N|LDHC_uc009yhp.2_Missense_Mutation_p.K76N|LDHC_uc001moo.3_Intron|LDHC_uc009yhq.2_Intron|LDHC_uc009yhr.2_Intron	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	76					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	GTACTTCAAAGATTACTTCTG	0.294													T	18436832	G	T	18436832	3	4	166	1	0	0	0	0	1	0	0	0	8702	933	33	5	234	5	LDHC	11	18436832	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	642919	18436832	116569684	762	91304											
LIN7C	55327	broad.mit.edu	37	chr11	27520241	27520241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcattttttcaaagcgCgactccatttcttctaagac	5	11	4	1	rs146421701		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:27520241C>T	uc001mrl.2	-	5	576	c.549G>A	c.(547-549)TCG>TCA	p.S183S	LIN7C_uc009yii.2_Silent_p.S159S	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	183					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TTTCAAAGCGCGACTCCATTT	0.383													T	27520241	C	T	27520241	2	4	166	1	0	0	0	0	0	0	0	1	8812	755	27	1		1	LIN7C	11	27520241	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	9083409	27520241	107486275	763	91305											
C11orf46	120534	broad.mit.edu	37	chr11	30352754	30352755	+	Frame_Shift_Ins	INS	-	-	A													catacacaagaaattagccaINSaaaaaaatttgcatgtaatt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:30352753_30352754C>CA	uc001mso.1	+	1	422_423	c.258_259C>CA	c.(256-261)gccaaafs	p.A86fs		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	86										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						AGAAATTAGCCAAAAAAAATTT	0.337													A	30352755	-	A	30352754	7	5	166	1	0	1	1	0	0	0	0	0	1643	131	5	0	261	0	C11orf46	11	30352754	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2832513	30352754	104653762	764	91306											
ELP4	26610	broad.mit.edu	37	chr11	31625347	31625347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcaagatttggtcaCtattatgatgcatcaaaaag	6	7	5	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:31625347C>T	uc001mtb.2	+	5	581	c.546C>T	c.(544-546)CAC>CAT	p.H182H	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.H182H|ELP4_uc010rdz.1_Silent_p.H183H	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	182					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			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					GATTTGGTCACTATTATGATG	0.318													T	31625347	C	T	31625347	2	4	166	1	0	0	0	0	0	0	0	1	5082	564	20	4		4	ELP4	11	31625347	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1272593	31625347	103381169	765	91307											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					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						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	166	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	3888323	35513670	99492846	766	91308											
CHRM4	1132	broad.mit.edu	37	chr11	46407572	46407572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactggttgtcgggcaccGtccgcttacccaccacaaac	9	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:46407572G>A	uc001nct.1	-	1	536	c.536C>T	c.(535-537)ACG>ATG	p.T179M		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	179	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				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)	GTCGGGCACCGTCCGCTTACC	0.577													A	46407572	G	A	46407572	3	1	166	1	0	0	0	0	1	0	0	0	3379	1145	40	1	907	1	CHRM4	11	46407572	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	10893902	46407572	88598944	767	91309											
LRP4	4038	broad.mit.edu	37	chr11	46911510	46911510	+	Frame_Shift_Del	DEL	G	G	-													tttacctgcaggttggcgctGggggtgcaaggtgtggatgt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:46911509_46911509TG>T	uc001ndn.4	-	14	2321	c.2078_2078CA>A	c.(2077-2079)cagfs	p.Q693fs		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	693					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical 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)		AGGTTGGCGCTGGGGGTGCAA	0.522											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	46911510	G	-	46911510	7	5	166	1	0	1	0	1	0	0	0	0	8959	1357	47	0	3736	0	LRP4	11	46911510	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	503938	46911510	88095006	768	91310											
MTCH2	23788	broad.mit.edu	37	chr11	47640459	47640459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaataagctatttcctcGgctcatattcccctggaaaa	6	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:47640459G>A	uc010rho.1	-	13	1027	c.838C>T	c.(838-840)CGA>TGA	p.R280*	MTCH2_uc001nge.2_Nonsense_Mutation_p.R153*|MTCH2_uc010rhp.1_Nonsense_Mutation_p.R132*	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	280					transport	integral to membrane|mitochondrial inner membrane					0						CTATTTCCTCGGCTCATATTC	0.393													A	47640459	G	A	47640459	4	1	166	1	0	0	0	0	0	1	0	0	9914	1124	39	1	77	1	MTCH2	11	47640459	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	728949	47640459	87366057	769	91311											
AGBL2	79841	broad.mit.edu	37	chr11	47732033	47732033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgaacatgctgatgcGtagcagagtttggtaaactg	11	8	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:47732033G>A	uc001ngg.2	-	3	228	c.128C>T	c.(127-129)ACG>ATG	p.T43M	AGBL2_uc010rhq.1_Missense_Mutation_p.T43M|AGBL2_uc001ngh.1_Missense_Mutation_p.T43M	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	43					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						ATGCTGATGCGTAGCAGAGTT	0.433													A	47732033	G	A	47732033	3	1	166	1	0	0	0	0	1	0	0	0	376	1145	40	1	2644	1	AGBL2	11	47732033	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	91574	47732033	87274483	770	91312											
OR4B1	119765	broad.mit.edu	37	chr11	48238570	48238570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccttggtggagatcaGttattcctccactatcgccc	8	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:48238570G>A	uc010rhs.1	+	1	209	c.209G>A	c.(208-210)AGT>AAT	p.S70N		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						GTGGAGATCAGTTATTCCTCC	0.468													A	48238570	G	A	48238570	3	1	166	1	0	0	0	0	1	0	0	0	11044	1029	36	4	211	4	OR4B1	11	48238570	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	506537	48238570	86767946	771	91313											
OR4X1	390113	broad.mit.edu	37	chr11	48286188	48286188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccttggtctatattaggcCctgtgtcaccctccctgcag	8	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:48286188C>A	uc010rht.1	+	1	776	c.776C>A	c.(775-777)CCC>CAC	p.P259H		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						TATATTAGGCCCTGTGTCACC	0.493													A	48286188	C	A	48286188	3	1	166	1	0	0	0	0	1	0	0	0	11084	623	22	5	778	5	OR4X1	11	48286188	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	47618	48286188	86720328	772	91314											
OR4C11	219429	broad.mit.edu	37	chr11	55371595	55371596	+	Frame_Shift_Del	DEL	AG	AG	-													taggttataattttcttttcAgagagagcatccacaattaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:55371594_55371595CAG>C	uc010rii.2	-	0	280_281	c.255_256CTG>G	c.(253-258)tctgaafs	p.S85fs		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S85T(1)|p.L84F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATTTTCTTTTCAGAGAGAGCAT	0.391													-	55371596	AG	-	55371595	7	5	166	1	0	1	0	1	0	0	0	0	11045	175	7	0	679	0	OR4C11	11	55371595	Frame_Shift_Del	DEL	AG	TCGA-CG-4306-01A-01D-1158-08	7085407	55371595	79634921	773	91315											
OR5R1	219479	broad.mit.edu	37	chr11	56184864	56184864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagggggtttaacatggggAtcaccactgtgtaaaataca	11	6	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:56184864A>G	uc010rji.1	-	1	845	c.845T>C	c.(844-846)ATC>ACC	p.I282T		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAACATGGGGATCACCACTGT	0.383													G	56184864	A	G	56184864	3	3	166	1	0	0	0	0	1	0	0	0	11180	333	12	3	131	3	OR5R1	11	56184864	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	813269	56184864	78821652	774	91316											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57088081	57088081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccaggggaccccggggaGgccgaggcccaacaggcacc	16	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57088081G>T	uc001njr.2	-	2	512	c.200C>A	c.(199-201)CCT>CAT	p.P67H	TNKS1BP1_uc001njs.2_Missense_Mutation_p.P67H|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	67	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			skin(1)	1		all_epithelial(135;0.21)				ACCCCGGGGAGGCCGAGGCCC	0.672													T	57088081	G	T	57088081	3	4	166	1	0	0	0	0	1	0	0	0	16317	1000	35	5	5025	5	TNKS1BP1	11	57088081	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	903217	57088081	77918435	775	91317											
SLC43A1	8501	broad.mit.edu	37	chr11	57263584	57263584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagataaggcaggccagGccagaccaggtgaacatgat	13	8	0	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57263584G>A	uc001nkk.2	-	7	730	c.612C>T	c.(610-612)GGC>GGT	p.G204G	SLC43A1_uc001nkl.2_Silent_p.G204G	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	204	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						GGCAGGCCAGGCCAGACCAGG	0.607													A	57263584	G	A	57263584	2	1	166	1	0	0	0	0	0	0	0	1	14632	1190	42	2		2	SLC43A1	11	57263584	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	175503	57263584	77742932	776	91318											
ZDHHC5	25921	broad.mit.edu	37	chr11	57460087	57460087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttctccctctaggttaCgggtaaattccggggaggtg	12	8	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57460087C>T	uc001nkx.1	+	7	1921	c.665C>T	c.(664-666)ACG>ATG	p.T222M	ZDHHC5_uc001nky.1_Missense_Mutation_p.T169M|ZDHHC5_uc001nkz.1_Missense_Mutation_p.T36M	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	222						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CTCTAGGTTACGGGTAAATTC	0.458													T	57460087	C	T	57460087	3	4	166	1	0	0	0	0	1	0	0	0	17615	536	19	1	687	1	ZDHHC5	11	57460087	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	196503	57460087	77546429	777	91319											
OR10Q1	219960	broad.mit.edu	37	chr11	57995632	57995632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggagaaggcccggcggCggccctcggcagaacggatg	19	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57995632C>T	uc010rkd.1	-	1	716	c.716G>A	c.(715-717)CGC>CAC	p.R239H		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GGCCCGGCGGCGGCCCTCGGC	0.632													T	57995632	C	T	57995632	3	4	166	1	0	0	0	0	1	0	0	0	10916	768	27	1	247	1	OR10Q1	11	57995632	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	535545	57995632	77010884	778	91320											
OR10Q1	219960	broad.mit.edu	37	chr11	57996170	57996170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaatacatcggggtgcGgagggtgctgtgtgtgcaca	17	6	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57996170G>A	uc010rkd.1	-	1	178	c.178C>T	c.(178-180)CGC>TGC	p.R60C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				ATCGGGGTGCGGAGGGTGCTG	0.522													A	57996170	G	A	57996170	3	1	166	1	0	0	0	0	1	0	0	0	10916	1116	39	1	785	1	OR10Q1	11	57996170	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	538	57996170	77010346	779	91321											
SYT7	9066	broad.mit.edu	37	chr11	61291307	61291307	+	Frame_Shift_Del	DEL	C	C	-													gaagccccgtacctgatgtgCccccgatgtccatggctttg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:61291306_61291306GC>G	uc001nrv.3	-	6	952	c.900_900GC>C	c.(898-900)ggcfs	p.G300fs	SYT7_uc009ynr.3_Frame_Shift_Del_p.G375fs	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	300	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TACCTGATGTGCCCCCGATGT	0.592													-	61291307	C	-	61291307	7	5	166	1	0	1	0	1	0	0	0	0	15476	739	26	0	324	0	SYT7	11	61291307	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	3295137	61291307	73715209	780	91322											
ASRGL1	80150	broad.mit.edu	37	chr11	62156702	62156702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaataaaatggtcggccgcGttggggactcaccgtgtcta	12	9	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:62156702G>A	uc001nte.3	+	5	873	c.589G>A	c.(589-591)GTT>ATT	p.V197I	ASRGL1_uc001ntf.3_Missense_Mutation_p.V197I|ASRGL1_uc001ntg.3_Missense_Mutation_p.V69I	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	197					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GGTCGGCCGCGTTGGGGACTC	0.577													A	62156702	G	A	62156702	3	1	166	1	0	0	0	0	1	0	0	0	1060	1145	40	1	603	1	ASRGL1	11	62156702	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	865395	62156702	72849814	781	91323											
AHNAK	79026	broad.mit.edu	37	chr11	62284598	62284598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggagaatttgcctttcGgtgaagaggcttcggcctct	12	8	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:62284598G>A	uc001ntl.2	-	5	17591	c.17291C>T	c.(17290-17292)CCG>CTG	p.P5764L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5764					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTTGCCTTTCGGTGAAGAGGC	0.507													A	62284598	G	A	62284598	3	1	166	1	0	0	0	0	1	0	0	0	414	1116	39	1	501	1	AHNAK	11	62284598	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	127896	62284598	72721918	782	91324											
ATL3	25923	broad.mit.edu	37	chr11	63414021	63414021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccattgccagacgaccGtattctgtgaagagctttaa	8	10	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:63414021G>A	uc001nxk.1	-	6	852	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y	ATL3_uc010rms.1_Silent_p.Y174Y	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	192	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						CCAGACGACCGTATTCTGTGA	0.269													A	63414021	G	A	63414021	2	1	166	1	0	0	0	0	0	0	0	1	1108	1140	40	1		1	ATL3	11	63414021	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1129423	63414021	71592495	783	91325											
C11orf84	144097	broad.mit.edu	37	chr11	63585406	63585406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcagcccaggaggcaGcgggcgggcactgtgcatgg	20	11	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:63585406G>A	uc001nxt.2	+	2	493	c.257G>A	c.(256-258)AGC>AAC	p.S86N		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	86											0						CCAGGAGGCAGCGGGCGGGCA	0.662													A	63585406	G	A	63585406	3	1	166	1	0	0	0	0	1	0	0	0	1667	971	34	2	263	2	C11orf84	11	63585406	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	171385	63585406	71421110	784	91326											
MARK2	2011	broad.mit.edu	37	chr11	63670244	63670244	+	Frame_Shift_Del	DEL	C	C	-													gaggaagaagaccaccccaaCcccctccacggtgagccgca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:63670243_63670243AC>A	uc001nxw.3	+	12	1984	c.1405_1405AC>A	c.(1405-1407)accfs	p.T469fs	MARK2_uc001nxv.4_Frame_Shift_Del_p.T468fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.T469fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.T468fs|MARK2_uc001nxz.4_Frame_Shift_Del_p.T435fs|MARK2_uc009yoy.3_Frame_Shift_Del_p.T435fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	469					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						GACCACCCCAACCCCCTCCAC	0.667													-	63670244	C	-	63670244	7	5	166	1	0	1	0	1	0	0	0	0	9313	507	18	0	1456	0	MARK2	11	63670244	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	84838	63670244	71336272	785	91327											
PPP2R5B	5526	broad.mit.edu	37	chr11	64697985	64697985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcgctgcccctgaagaCggagcacaagcagttcctgg	12	13	0	2	rs147891521	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:64697985C>T	uc001oby.2	+	8	1400	c.815C>T	c.(814-816)ACG>ATG	p.T272M	PPP2R5B_uc001obz.2_Missense_Mutation_p.T272M	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	272					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCCCTGAAGACGGAGCACAAG	0.607													T	64697985	C	T	64697985	3	4	166	1	0	0	0	0	1	0	0	0	12393	536	19	1	841	1	PPP2R5B	11	64697985	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1027741	64697985	70308531	786	91328											
SLC25A45	283130	broad.mit.edu	37	chr11	65144509	65144509	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgtctggttttgtagCcggactttgatgaggtcaaa	13	7	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:65144509C>A	uc001odp.1	-	5	800	c.378G>T	c.(376-378)CGG>CGT	p.R126R	SLC25A45_uc009yqi.1_Silent_p.R64R|SLC25A45_uc001odq.1_Silent_p.R102R|SLC25A45_uc001odr.1_Silent_p.R126R|SLC25A45_uc001ods.1_Silent_p.R84R|SLC25A45_uc001odt.1_Silent_p.R84R	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	126	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GGTTTTGTAGCCGGACTTTGA	0.632													A	65144509	C	A	65144509	2	1	166	1	0	0	0	0	0	0	0	1	14510	726	26	5		5	SLC25A45	11	65144509	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	446524	65144509	69862007	787	91329											
MAP3K11	4296	broad.mit.edu	37	chr11	65365885	65365885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagaaggggtctgagtcCgggaacaaggtccagggtgc	16	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:65365885C>T	uc001oew.2	-	10	2914	c.2421G>A	c.(2419-2421)CCG>CCA	p.P807P	KCNK7_uc001oeq.2_5'Flank|KCNK7_uc001oer.2_5'Flank|KCNK7_uc001oes.2_5'Flank|KCNK7_uc001oeu.2_5'Flank|MAP3K11_uc001oev.2_Silent_p.P223P|MAP3K11_uc010rol.1_Silent_p.P550P|MAP3K11_uc001oex.1_Silent_p.P296P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	807	Pro-rich.				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)|lung(1)|central_nervous_system(1)|skin(1)	6						GGTCTGAGTCCGGGAACAAGG	0.672													T	65365885	C	T	65365885	2	4	166	1	0	0	0	0	0	0	0	1	9245	639	23	1		1	MAP3K11	11	65365885	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	221376	65365885	69640631	788	91330											
PCNXL3	399909	broad.mit.edu	37	chr11	65390989	65390989	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagtgctggagaacatcttCggcgtgggcctgagcagcct	16	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:65390989C>T	uc001oey.2	+	12	2385	c.2385C>T	c.(2383-2385)TTC>TTT	p.F795F	PCNXL3_uc009yqn.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	795	Helical; (Potential).					integral to membrane					0						AGAACATCTTCGGCGTGGGCC	0.617													T	65390989	C	T	65390989	2	4	166	1	0	0	0	0	0	0	0	1	11593	883	31	1		1	PCNXL3	11	65390989	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	25104	65390989	69615527	789	91331											
CTSF	8722	broad.mit.edu	37	chr11	66331420	66331420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcttcagtccaccaccgccGagctggccatggtgttcacg	10	16	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:66331420G>A	uc001oip.2	-	13	1529	c.1439C>T	c.(1438-1440)TCG>TTG	p.S480L		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	480				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).	proteolysis	lysosome	cysteine-type endopeptidase activity				0						CACCACCGCCGAGCTGGCCAT	0.672													A	66331420	G	A	66331420	3	1	166	1	0	0	0	0	1	0	0	0	4034	1059	37	1	19	1	CTSF	11	66331420	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	940431	66331420	68675096	790	91332											
RBM14	10432	broad.mit.edu	37	chr11	66392099	66392099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggagctgcctacagggCccagccttctgcctctttgg	12	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:66392099C>T	uc001oit.2	+	2	891	c.752C>T	c.(751-753)GCC>GTC	p.A251V	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	251	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			ovary(2)|central_nervous_system(1)	3						GCCTACAGGGCCCAGCCTTCT	0.657													T	66392099	C	T	66392099	3	4	166	1	0	0	0	0	1	0	0	0	13115	739	26	2	758	2	RBM14	11	66392099	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	60679	66392099	68614417	791	91333											
ANKRD13D	338692	broad.mit.edu	37	chr11	67068991	67068991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgaggtggaccccaccGtgtttgaagtgcccaacggg	15	12	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:67068991G>A	uc001okc.1	+	14	1631	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	ANKRD13D_uc001okd.1_Missense_Mutation_p.V461M|ANKRD13D_uc001oke.1_Missense_Mutation_p.V374M|ANKRD13D_uc001okg.1_Missense_Mutation_p.V157M|ANKRD13D_uc001okh.1_Missense_Mutation_p.V157M|ANKRD13D_uc001oki.1_Missense_Mutation_p.V111M|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	374										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGACCCCACCGTGTTTGAAGT	0.657													A	67068991	G	A	67068991	3	1	166	1	0	0	0	0	1	0	0	0	644	1145	40	1	1431	1	ANKRD13D	11	67068991	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	676892	67068991	67937525	792	91334											
NDUFV1	4723	broad.mit.edu	37	chr11	67379380	67379380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagacggacatcgtgAaagccatcgcccgcctcatt	8	16	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:67379380A>G	uc001omj.2	+	8	1246	c.1093A>G	c.(1093-1095)AAA>GAA	p.K365E	NDUFV1_uc010rpv.1_Missense_Mutation_p.K264E|NDUFV1_uc001oml.2_Missense_Mutation_p.K358E|NDUFV1_uc001omk.3_Missense_Mutation_p.K356E|NDUFV1_uc009yrz.1_Missense_Mutation_p.E224G|NDUFV1_uc010rpw.1_Missense_Mutation_p.K74E	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	365					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			skin(1)	1					NADH(DB00157)	GGACATCGTGAAAGCCATCGC	0.632													G	67379380	A	G	67379380	3	3	166	1	0	0	0	0	1	0	0	0	10299	247	9	3	1123	3	NDUFV1	11	67379380	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	310389	67379380	67627136	793	91335											
ORAOV1	220064	broad.mit.edu	37	chr11	69488079	69488080	+	Frame_Shift_Ins	INS	-	-	C													tagccttcccgatacccttcINScccatgaaacctgtgaagaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:69488078_69488079T>TC	uc001opc.3	-	1	219_220	c.61_62A>GA	c.(61-63)gaafs	p.E21fs	ORAOV1_uc010rqi.1_Frame_Shift_Ins_p.E21fs|ORAOV1_uc009ysm.3_Non-coding_Transcript|ORAOV1_uc001opd.3_Intron|ORAOV1_uc001ope.1_Frame_Shift_Ins_p.E21fs	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Homo sapiens oral cancer overexpressed 1 (ORAOV1), mRNA.	21										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)			CCGATACCCTTCCCCATGAAAC	0.48													C	69488080	-	C	69488079	7	5	166	1	0	1	1	0	0	0	0	0	11260	864	30	0	368	0	ORAOV1	11	69488079	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2108699	69488079	65518437	794	91336											
ANO1	55107	broad.mit.edu	37	chr11	70009435	70009435	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacattttccgttccttcCgaatggaagaggtaaccgaa	9	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:70009435C>T	uc001opj.2	+	19	2244	c.1939C>T	c.(1939-1941)CGA>TGA	p.R647*	ANO1_uc001opk.1_Nonsense_Mutation_p.R589*|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Nonsense_Mutation_p.R356*	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	647	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CCGTTCCTTCCGAATGGAAGA	0.517													T	70009435	C	T	70009435	4	4	166	1	0	0	0	0	0	1	0	0	695	644	23	1	2013	1	ANO1	11	70009435	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	521356	70009435	64997081	795	91337											
PPFIA1	8500	broad.mit.edu	37	chr11	70183500	70183500	+	Frame_Shift_Del	DEL	A	A	-													ttaagagaagttgaaagtgcAaaaaagcagttagaagaaac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:70183499_70183499CA>C	uc001opo.3	+	11	1672	c.1457_1457CA>C	c.(1456-1458)gcafs	p.A486fs	PPFIA1_uc001opn.2_Frame_Shift_Del_p.A486fs|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	486					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)			GTTGAAAGTGCAAAAAAGCAG	0.338													-	70183500	A	-	70183500	7	5	166	1	0	1	0	1	0	0	0	0	12309	117	5	0	1500	0	PPFIA1	11	70183500	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	174065	70183500	64823016	796	91338											
INPPL1	3636	broad.mit.edu	37	chr11	71939254	71939254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcagaagcatgtgcacaCgtatcgcattctgcctgatg	10	10	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:71939254C>T	uc001osf.2	+	2	350	c.203C>T	c.(202-204)ACG>ATG	p.T68M	INPPL1_uc001osg.2_Translation_Start_Site	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	68	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CATGTGCACACGTATCGCATT	0.582													T	71939254	C	T	71939254	3	4	166	1	0	0	0	0	1	0	0	0	7761	536	19	1	209	1	INPPL1	11	71939254	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1755754	71939254	63067262	797	91339											
PDE2A	5138	broad.mit.edu	37	chr11	72295930	72295930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcacctcatcatccaccaCgcccccgtcgaacaccttgg	5	20	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:72295930C>T	uc010rrc.1	-	17	1588	c.1345G>A	c.(1345-1347)GTG>ATG	p.V449M	PDE2A_uc001oso.2_Missense_Mutation_p.V428M|PDE2A_uc010rra.1_Missense_Mutation_p.V442M|PDE2A_uc001osn.2_Missense_Mutation_p.V193M|PDE2A_uc010rrb.1_Missense_Mutation_p.V440M|PDE2A_uc010rrd.1_Missense_Mutation_p.V334M	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	449	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCATCCACCACGCCCCCGTCG	0.647													T	72295930	C	T	72295930	3	4	166	1	0	0	0	0	1	0	0	0	11636	536	19	1	1540	1	PDE2A	11	72295930	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	356676	72295930	62710586	798	91340											
CHRDL2	25884	broad.mit.edu	37	chr11	74441890	74441890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggggaaccagagcagcGcgagtcccagcaaggaggag	17	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:74441890G>A	uc001ovi.2	-	1	297	c.44C>T	c.(43-45)GCG>GTG	p.A15V	CHRDL2_uc001ovh.2_Missense_Mutation_p.A15V|CHRDL2_uc001ovk.1_Missense_Mutation_p.A15V			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	15					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					CCAGAGCAGCGCGAGTCCCAG	0.672													A	74441890	G	A	74441890	3	1	166	1	0	0	0	0	1	0	0	0	3374	1087	38	1	1359	1	CHRDL2	11	74441890	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2145960	74441890	60564626	799	91341											
MAP6	4135	broad.mit.edu	37	chr11	75379314	75379314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggtgctcggtggcctccGagtacttggtgaaaaccagc	14	12	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:75379314G>A	uc001owu.2	-	1	166	c.101C>T	c.(100-102)TCG>TTG	p.S34L	MAP6_uc001owv.2_Missense_Mutation_p.S34L	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	34						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GGTGGCCTCCGAGTACTTGGT	0.388													A	75379314	G	A	75379314	3	1	166	1	0	0	0	0	1	0	0	0	9264	1059	37	1	2360	1	MAP6	11	75379314	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	937424	75379314	59627202	800	91342											
USP35	57558	broad.mit.edu	37	chr11	77921181	77921181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgagggctcccgctcCgtcctggacctggttaacta	12	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:77921181C>T	uc009yva.1	+	10	2526	c.2280C>T	c.(2278-2280)TCC>TCT	p.S760S	USP35_uc001oze.2_Silent_p.S516S|USP35_uc001ozc.2_Silent_p.S328S|USP35_uc010rsp.1_Silent_p.S192S|USP35_uc001ozd.2_Silent_p.S371S|USP35_uc001ozf.2_Silent_p.S491S	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	760					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	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)			GCTCCCGCTCCGTCCTGGACC	0.577													T	77921181	C	T	77921181	2	4	166	1	0	0	0	0	0	0	0	1	17063	639	23	1		1	USP35	11	77921181	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2541867	77921181	57085335	801	91343											
C11orf82	220042	broad.mit.edu	37	chr11	82644463	82644463	+	Frame_Shift_Del	DEL	A	A	-													acattgcaactgagattaccAaaaaatcacaggatattttg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:82644462_82644462CA>C	uc001ozt.3	+	5	2326	c.2082_2082CA>C	c.(2080-2082)accfs	p.T694fs	C11orf82_uc010rsr.2_Frame_Shift_Del_p.T393fs|C11orf82_uc010rss.2_Frame_Shift_Del_p.T393fs|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	694					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						CTGAGATTACCAAAAAATCAC	0.368													-	82644463	A	-	82644463	7	5	166	1	0	1	0	1	0	0	0	0	1665	131	5	0	2097	0	C11orf82	11	82644463	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	4723282	82644463	52362053	802	91344											
PCF11	51585	broad.mit.edu	37	chr11	82877374	82877374	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatcgagtactagaaagCgatcaagatctcgatcaccc	10	10	3	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:82877374C>T	uc001ozx.3	+	5	1780	c.1435C>T	c.(1435-1437)CGA>TGA	p.R479*	PCF11_uc010rsu.1_Nonsense_Mutation_p.R479*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	479					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TACTAGAAAGCGATCAAGATC	0.408													T	82877374	C	T	82877374	4	4	166	1	0	0	0	0	0	1	0	0	11573	760	27	1	1453	1	PCF11	11	82877374	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	232911	82877374	52129142	803	91345											
DLG2	1740	broad.mit.edu	37	chr11	83770433	83770433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgcacatacagccgaaCgatagaccctgcttccttca	6	15	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:83770433C>T	uc001paj.2	-	6	832	c.529G>A	c.(529-531)GTT>ATT	p.V177I	DLG2_uc001pai.2_Missense_Mutation_p.V126I|DLG2_uc010rsy.1_Missense_Mutation_p.V144I|DLG2_uc010rsz.1_Missense_Mutation_p.V177I|DLG2_uc010rta.1_Missense_Mutation_p.V177I|DLG2_uc001pak.2_Missense_Mutation_p.V282I|DLG2_uc010rtb.1_Missense_Mutation_p.V144I|DLG2_uc001pal.1_Missense_Mutation_p.V177I|DLG2_uc001pam.1_Missense_Mutation_p.V216I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	177	PDZ 1.			V -> A (in Ref. 1; AAB04949).		cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACAGCCGAACGATAGACCCT	0.453													T	83770433	C	T	83770433	3	4	166	1	0	0	0	0	1	0	0	0	4555	536	19	1	2205	1	DLG2	11	83770433	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	893059	83770433	51236083	804	91346											
GRM5	2915	broad.mit.edu	37	chr11	88780735	88780735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctctagggccacagcCgaatgccagcaggagtccct	11	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:88780735C>T	uc001pcq.2	-	1	506	c.306G>A	c.(304-306)TCG>TCA	p.S102S	GRM5_uc009yvm.2_Silent_p.S102S|GRM5_uc009yvn.1_Silent_p.S102S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	102	Extracellular (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGGCCACAGCCGAATGCCAGC	0.522													T	88780735	C	T	88780735	2	4	166	1	0	0	0	0	0	0	0	1	6800	639	23	1		1	GRM5	11	88780735	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5010302	88780735	46225781	805	91347											
FAT3	120114	broad.mit.edu	37	chr11	92533495	92533495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttatctgggaatgaccGgacgagctttctgatggaca	11	8	2	2	rs149993900	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:92533495G>A	uc001pdj.3	+	9	7333	c.7316G>A	c.(7315-7317)CGG>CAG	p.R2439Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2439	Cadherin 22.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAATGACCGGACGAGCTTT	0.493										TCGA Ovarian(4;0.039)			A	92533495	G	A	92533495	3	1	166	1	0	0	0	0	1	0	0	0	5691	1116	39	1	7350	1	FAT3	11	92533495	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3752760	92533495	42473021	806	91348											
FAT3	120114	broad.mit.edu	37	chr11	92613994	92613994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggaatggaggatcctgCgatccaataggaaacacttt	11	9	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:92613994C>T	uc001pdj.3	+	22	12242	c.12225C>T	c.(12223-12225)TGC>TGT	p.C4075C	FAT3_uc001pdi.3_Silent_p.C515C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4075	EGF-like 3.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGGATCCTGCGATCCAATAG	0.458										TCGA Ovarian(4;0.039)			T	92613994	C	T	92613994	2	4	166	1	0	0	0	0	0	0	0	1	5691	776	27	1		1	FAT3	11	92613994	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	80499	92613994	42392522	807	91349											
CCDC82	79780	broad.mit.edu	37	chr11	96117864	96117864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagatttctgctcaggcacGtgactcttagaatttctcct	8	11	4	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:96117864G>A	uc009ywp.2	-	1	291	c.48C>T	c.(46-48)CAC>CAT	p.H16H	CCDC82_uc009ywq.2_Silent_p.H16H|CCDC82_uc001pfx.3_Silent_p.H16H|CCDC82_uc009ywr.2_Silent_p.H16H|CCDC82_uc009yws.2_Silent_p.H16H	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	16							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GCTCAGGCACGTGACTCTTAG	0.343													A	96117864	G	A	96117864	2	1	166	1	0	0	0	0	0	0	0	1	2856	1136	40	1		1	CCDC82	11	96117864	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3503870	96117864	38888652	808	91350											
KIAA1377	57562	broad.mit.edu	37	chr11	101786106	101786106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagagcccccctcggccctCgggagagcggcgggcatcac	14	17	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:101786106C>T	uc001pgm.2	+	1	361	c.91C>T	c.(91-93)CGG>TGG	p.R31W	ANGPTL5_uc001pgl.2_Intron	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	31							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCTCGGCCCTCGGGAGAGCGG	0.642													T	101786106	C	T	101786106	3	4	166	1	0	0	0	0	1	0	0	0	8227	875	31	1	93	1	KIAA1377	11	101786106	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5668242	101786106	33220410	809	91351											
PIH1D2	120379	broad.mit.edu	37	chr11	111941920	111941920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgcatttcatggccatcTgaattaactgattttttttc	5	8	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:111941920T>C	uc001pmq.3	-	4	471	c.389A>G	c.(388-390)CAG>CGG	p.Q130R	PIH1D2_uc009yyl.2_Missense_Mutation_p.Q130R|PIH1D2_uc001pmp.3_Missense_Mutation_p.Q130R|PIH1D2_uc010rws.1_Missense_Mutation_p.Q130R	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	130										ovary(1)	1		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)		CATGGCCATCTGAATTAACTG	0.363													C	111941920	T	C	111941920	3	2	166	1	0	0	0	0	1	0	0	0	11907	1580	55	3	628	3	PIH1D2	11	111941920	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	10155814	111941920	23064596	810	91352											
FAM55A	120400	broad.mit.edu	37	chr11	114393134	114393135	+	Frame_Shift_Ins	INS	-	-	T													tgacgaagggatagctatgtINStttttccattgaatctgagt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:114393133_114393134G>GT	uc001ppa.3	-	5	1191_1192	c.774_775C>AC	c.(772-777)aaacatfs	p.K258fs	FAM55A_uc010rxd.2_Frame_Shift_Ins_p.K107fs	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	400						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GGATAGCTATGTTTTTTCCATT	0.386													T	114393135	-	T	114393134	7	5	166	1	0	1	1	0	0	0	0	0	5584	1722	60	0	447	0	FAM55A	11	114393134	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2451214	114393134	20613382	811	91353											
BACE1	23621	broad.mit.edu	37	chr11	117186283	117186283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccacggtcatctccaCgtagtagccctgccccgact	9	18	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:117186283C>T	uc001pqz.2	-	1	690	c.229G>A	c.(229-231)GTG>ATG	p.V77M	BACE1_uc001pqw.2_Missense_Mutation_p.V77M|BACE1_uc001pqx.2_Missense_Mutation_p.V77M|BACE1_uc001pqy.2_Missense_Mutation_p.V77M|BACE1_uc001pra.1_Missense_Mutation_p.V77M	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	77	Extracellular (Potential).				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			ovary(1)	1	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)		GTCATCTCCACGTAGTAGCCC	0.682													T	117186283	C	T	117186283	3	4	166	1	0	0	0	0	1	0	0	0	1281	536	19	1	1312	1	BACE1	11	117186283	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2793149	117186283	17820233	812	91354											
DSCAML1	57453	broad.mit.edu	37	chr11	117387410	117387410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgataagggtgtcccgccCggcgactgctgtgatgttcc	14	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:117387410C>T	uc001prh.1	-	8	1737	c.1735G>A	c.(1735-1737)GGG>AGG	p.G579R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	519	Extracellular (Potential).|Ig-like C2-type 6.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GTGTCCCGCCCGGCGACTGCT	0.607													T	117387410	C	T	117387410	3	4	166	1	0	0	0	0	1	0	0	0	4769	652	23	1	4710	1	DSCAML1	11	117387410	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	201127	117387410	17619106	813	91355											
DSCAML1	57453	broad.mit.edu	37	chr11	117651423	117651423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgcgctgggggagcccGcggccgggcagggcaccacc	20	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:117651423G>A	uc001prh.1	-	2	331	c.329C>T	c.(328-330)GCG>GTG	p.A110V	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	50	Extracellular (Potential).|Ig-like C2-type 1.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GGGGGAGCCCGCGGCCGGGCA	0.657													A	117651423	G	A	117651423	3	1	166	1	0	0	0	0	1	0	0	0	4769	1087	38	1	6140	1	DSCAML1	11	117651423	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	264013	117651423	17355093	814	91356											
ATP5L	10632	broad.mit.edu	37	chr11	118279806	118279806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggcatcattggctatgAtgtttgaagaccaatcttta	11	7	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:118279806A>G	uc001psx.2	+	3	582	c.305A>G	c.(304-306)GAT>GGT	p.D102G		NM_006476	NP_006467	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	102					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding				0	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;3.07e-05)		ATTGGCTATGATGTTTGAAGA	0.378													G	118279806	A	G	118279806	3	3	166	1	0	0	0	0	1	0	0	0	1160	333	12	3	315	3	ATP5L	11	118279806	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	628383	118279806	16726710	815	91357											
PHLDB1	23187	broad.mit.edu	37	chr11	118499199	118499199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttactggggcttcaccctgcCagagtccctgtgtccagagg	12	13	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:118499199C>A	uc001ptr.1	+	7	2013	c.1660C>A	c.(1660-1662)CAG>AAG	p.Q554K	PHLDB1_uc001pts.2_Missense_Mutation_p.Q554K|PHLDB1_uc001ptt.2_Missense_Mutation_p.Q554K|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.Q354K|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	554											0	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)		TTCACCCTGCCAGAGTCCCTG	0.592													A	118499199	C	A	118499199	3	1	166	1	0	0	0	0	1	0	0	0	11851	595	21	5	1678	5	PHLDB1	11	118499199	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	219393	118499199	16507317	816	91358											
PDZD3	79849	broad.mit.edu	37	chr11	119058114	119058114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcccaggggtccggcccCggctgtgccacatagtgaaa	14	13	0	1	rs140060249		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:119058114C>T	uc001pwb.2	+	3	1188	c.664C>T	c.(664-666)CGG>TGG	p.R222W	PDZD3_uc001pvy.2_Missense_Mutation_p.R156W|PDZD3_uc001pvz.2_Missense_Mutation_p.R156W|PDZD3_uc010rzd.1_Missense_Mutation_p.R143W|PDZD3_uc001pwa.2_5'UTR			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	222					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTCCGGCCCCGGCTGTGCCA	0.622													T	119058114	C	T	119058114	3	4	166	1	0	0	0	0	1	0	0	0	11702	643	23	1	484	1	PDZD3	11	119058114	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	558915	119058114	15948402	817	91359											
MFRP	83552	broad.mit.edu	37	chr11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-													atggtgcgaggagacgaggtGggggggtggctctgctccac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622													-	119213688	G	-	119213688	7	5	166	1	0	1	0	1	0	0	0	0	9526	1348	47	0	605	0	MFRP	11	119213688	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	155574	119213688	15792828	818	91360											
TRIM29	23650	broad.mit.edu	37	chr11	120008304	120008304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttccgccgggtctcccCgggctccatgatggacaccg	13	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:120008304C>T	uc001pwz.2	-	1	560	c.436G>A	c.(436-438)GGG>AGG	p.G146R	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	146					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGGTCTCCCCGGGCTCCATG	0.642													T	120008304	C	T	120008304	3	4	166	1	0	0	0	0	1	0	0	0	16500	652	23	1	1366	1	TRIM29	11	120008304	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	794616	120008304	14998212	819	91361											
ARHGEF12	23365	broad.mit.edu	37	chr11	120350842	120350842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctggtgaaggacatatgCcctttagaactggaactggt	11	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:120350842C>T	uc001pxl.1	+	38	3947	c.3940C>T	c.(3940-3942)CCC>TCC	p.P1314S	ARHGEF12_uc009zat.2_Missense_Mutation_p.P1295S|ARHGEF12_uc009zau.1_Missense_Mutation_p.P1211S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1314					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			lung(2)|breast(2)|skin(2)|ovary(1)	7		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)		AGGACATATGCCCTTTAGAAC	0.483			T	MLL	AML								T	120350842	C	T	120350842	3	4	166	1	0	0	0	0	1	0	0	0	897	739	26	2	4090	2	ARHGEF12	11	120350842	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	342538	120350842	14655674	820	91362											
GRIK4	2900	broad.mit.edu	37	chr11	120827592	120827592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctctggtttccggtcGgggggttcatgcagcaaggc	15	11	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:120827592G>A	uc001pxn.2	+	16	2091	c.1804G>A	c.(1804-1806)GGG>AGG	p.G602R	GRIK4_uc009zav.1_Missense_Mutation_p.G602R|GRIK4_uc009zaw.1_Missense_Mutation_p.G602R|GRIK4_uc009zax.1_Missense_Mutation_p.G602R	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	602	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	GTTTCCGGTCGGGGGGTTCAT	0.652													A	120827592	G	A	120827592	3	1	166	1	0	0	0	0	1	0	0	0	6776	1116	39	1	1858	1	GRIK4	11	120827592	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	476750	120827592	14178924	821	91363											
UBASH3B	84959	broad.mit.edu	37	chr11	122678801	122678801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctgattgtggcccacGcatcttcccttgaagcgtgt	9	13	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:122678801G>A	uc001pyi.3	+	13	2089	c.1729G>A	c.(1729-1731)GCA>ACA	p.A577T		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	577	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TGTGGCCCACGCATCTTCCCT	0.458													A	122678801	G	A	122678801	3	1	166	1	0	0	0	0	1	0	0	0	16837	1087	38	1	1779	1	UBASH3B	11	122678801	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1851209	122678801	12327715	822	91364											
BSX	390259	broad.mit.edu	37	chr11	122848490	122848490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcggcctctgaaccgCgggggctgccctcggggctt	18	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:122848490C>T	uc010rzs.1	-	3	569	c.569G>A	c.(568-570)CGC>CAC	p.R190H		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	190											0		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)		CTCTGAACCGCGGGGGCTGCC	0.652													T	122848490	C	T	122848490	3	4	166	1	0	0	0	0	1	0	0	0	1535	768	27	1	135	1	BSX	11	122848490	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	169689	122848490	12158026	823	91365											
NRGN	4900	broad.mit.edu	37	chr11	124615423	124615423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcctgctccaagccggacGacgacattctagacatcccg	9	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:124615423G>A	uc001qaq.2	+	2	192	c.40G>A	c.(40-42)GAC>AAC	p.D14N	NRGN_uc001qar.2_Missense_Mutation_p.D14N	NM_006176	NP_006167	Q92686	NEUG_HUMAN	neurogranin	14					nervous system development|signal transduction		calmodulin binding				0	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;0.0214)		CAAGCCGGACGACGACATTCT	0.632													A	124615423	G	A	124615423	3	1	166	1	0	0	0	0	1	0	0	0	10651	1058	37	1	46	1	NRGN	11	124615423	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1766933	124615423	10391093	824	91366											
VSIG2	23584	broad.mit.edu	37	chr11	124618378	124618378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaactgacagcaacagCacgcccaggagcaccccaat	9	16	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:124618378C>T	uc001qas.2	-	6	835	c.759G>A	c.(757-759)GTG>GTA	p.V253V	VSIG2_uc001qat.2_Silent_p.V253V	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	253	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	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)		ACAGCAACAGCACGCCCAGGA	0.587													T	124618378	C	T	124618378	2	4	166	1	0	0	0	0	0	0	0	1	17221	697	25	2		2	VSIG2	11	124618378	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2955	124618378	10388138	825	91367											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275467	130275467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaatcacagggggcacaGctggctttcgcagggcttgg	15	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:130275467G>A	uc001qgg.3	-	9	3014	c.2656C>T	c.(2656-2658)CTG>TTG	p.L886L	ADAMTS8_uc001qgf.2_Silent_p.L367L	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	886	TSP type-1 2.				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)	1	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)		AGGGGGCACAGCTGGCTTTCG	0.637													A	130275467	G	A	130275467	2	1	166	1	0	0	0	0	0	0	0	1	272	962	34	2		2	ADAMTS8	11	130275467	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5657089	130275467	4731049	826	91368											
NCAPD3	23310	broad.mit.edu	37	chr11	134051038	134051038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttggagaggcggtgctcGcaggtggagagtacatcccc	16	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:134051038G>A	uc001qhd.1	-	20	3099	c.2493C>T	c.(2491-2493)TGC>TGT	p.C831C	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	831					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		GGCGGTGCTCGCAGGTGGAGA	0.522													A	134051038	G	A	134051038	2	1	166	1	0	0	0	0	0	0	0	1	10206	1079	38	1		1	NCAPD3	11	134051038	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3775571	134051038	955478	827	91369											
GLB1L2	89944	broad.mit.edu	37	chr11	134212846	134212846	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgaacaccctcaccacGtaggtgctgcccctgtcccc	9	18	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:134212846G>A	uc001qhp.2	+	2	472	c.284_splice	c.e2+1	p.T95_splice		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		CCCTCACCACGTAGGTGCTGC	0.612													A	134212846	G	A	134212846	5	1	166	1	0	0	0	0	0	0	1	0	6429	1159	40	1	291	1	GLB1L2	11	134212846	Splice_Site	SNP	G	TCGA-CG-4306-01A-01D-1158-08	161808	134212846	793670	828	91370											
WNK1	65125	broad.mit.edu	37	chr12	1005427	1005427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagatgtgccagagagtgCccacaaaactactgcctcag	9	12	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:1005427C>T	uc001qio.3	+	24	6281	c.5774C>T	c.(5773-5775)GCC>GTC	p.A1925V	WNK1_uc001qip.3_Missense_Mutation_p.A1677V|WNK1_uc001qir.3_Missense_Mutation_p.A1098V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1925					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	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)			CCAGAGAGTGCCCACAAAACT	0.498													T	1005427	C	T	1005427	3	4	166	1	0	0	0	0	1	0	0	0	17374	739	26	2	7370	2	WNK1	12	1005427	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08		1005427	132846468	829	91371											
PARP11	57097	broad.mit.edu	37	chr12	3939057	3939057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaaggaaaggaggtaccTgaaacatgtgccacttccca	9	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:3939057T>C	uc001qmk.1	-	1	180	c.125A>G	c.(124-126)CAG>CGG	p.Q42R	PARP11_uc001qml.2_Missense_Mutation_p.Q49R|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Silent_p.S8S|PARP11_uc001qmn.2_Silent_p.S8S	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	42	WWE.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			AGGAGGTACCTGAAACATGTG	0.388													C	3939057	T	C	3939057	3	2	166	1	0	0	0	0	1	0	0	0	11456	1594	55	3	898	3	PARP11	12	3939057	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2933630	3939057	129912838	830	91372											
PLEKHG6	55200	broad.mit.edu	37	chr12	6425053	6425053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctagccgccggcctgCtgaacctgcagcgagtggga	15	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:6425053C>T	uc001qnr.2	+	6	722	c.574C>T	c.(574-576)CTG>TTG	p.L192L	PLEKHG6_uc001qns.2_Silent_p.L192L|PLEKHG6_uc010sew.1_Silent_p.L192L|PLEKHG6_uc010sex.1_Silent_p.L160L	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	192	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						CGCCGGCCTGCTGAACCTGCA	0.667													T	6425053	C	T	6425053	2	4	166	1	0	0	0	0	0	0	0	1	12074	796	28	2		2	PLEKHG6	12	6425053	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2485996	6425053	127426842	831	91373											
M6PR	4074	broad.mit.edu	37	chr12	9094486	9094486	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatcccccacaccacgataTgctgcaggcacatttcgagg	8	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:9094486T>A	uc001qvf.2	-	7	932	c.762A>T	c.(760-762)GCA>GCT	p.A254A		NM_002355	NP_002346	P20645	MPRD_HUMAN	cation-dependent mannose-6-phosphate receptor	254	Cytoplasmic (Potential).				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				0		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		CACCACGATATGCTGCAGGCA	0.463													A	9094486	T	A	9094486	2	1	166	1	0	0	0	0	0	0	0	1	9140	1451	51	5		5	M6PR	12	9094486	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2669433	9094486	124757409	832	91374											
PZP	5858	broad.mit.edu	37	chr12	9349220	9349220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcttcatttcaaagcccGtatttgtaatctggagcatt	7	8	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:9349220G>A	uc001qvl.2	-	9	958	c.929C>T	c.(928-930)ACG>ATG	p.T310M	PZP_uc009zgl.2_Missense_Mutation_p.T179M	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TTCAAAGCCCGTATTTGTAAT	0.388													A	9349220	G	A	9349220	3	1	166	1	0	0	0	0	1	0	0	0	12869	1145	40	1	3631	1	PZP	12	9349220	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	254734	9349220	124502675	833	91375											
PRH2	5555	broad.mit.edu	37	chr12	11083297	11083297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttcatagatgaggagcGtcagggaccacctttgggag	15	8	2	2	rs147911411	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:11083297G>A	uc009zhr.2	+	3	175	c.137G>A	c.(136-138)CGT>CAT	p.R46H	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.R46H|PRH2_uc001qzi.3_Missense_Mutation_p.R46H	NM_001110213	NP_001103683	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	46	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding				0						GATGAGGAGCGTCAGGGACCA	0.532													A	11083297	G	A	11083297	3	1	166	1	0	0	0	0	1	0	0	0	12483	1145	40	1	147	1	PRH2	12	11083297	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1734077	11083297	122768598	834	91376											
WBP11	51729	broad.mit.edu	37	chr12	14940008	14940008	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaaaagctgtcacagtagCccttccatctctttcatgaa	5	12	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:14940008C>A	uc001rci.2	-	12	2078	c.1917G>T	c.(1915-1917)GGG>GGT	p.G639G		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	639					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						GTCACAGTAGCCCTTCCATCT	0.453													A	14940008	C	A	14940008	2	1	166	1	0	0	0	0	0	0	0	1	17255	726	26	5		5	WBP11	12	14940008	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3856711	14940008	118911887	835	91377											
TMTC1	83857	broad.mit.edu	37	chr12	29904657	29904657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgctcttgggttctgGtggcagtggagagtggcagc	16	9	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:29904657G>A	uc001rjb.2	-	5	1030	c.556C>T	c.(556-558)CCA>TCA	p.P186S	TMTC1_uc001rjc.1_Missense_Mutation_p.P186S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	294						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTGGGTTCTGGTGGCAGTGGA	0.403													A	29904657	G	A	29904657	3	1	166	1	0	0	0	0	1	0	0	0	16257	1261	44	4	1824	4	TMTC1	12	29904657	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	14964649	29904657	103947238	836	91378											
SFRS2IP	9169	broad.mit.edu	37	chr12	46322094	46322094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactctttcctctgtatcatAatttgcagtatgcttctcac	4	11	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:46322094A>G	uc001rox.2	-	11	1677	c.1390T>C	c.(1390-1392)TAT>CAT	p.Y464H	SFRS2IP_uc001row.2_Missense_Mutation_p.Y149H|SFRS2IP_uc001roy.1_Missense_Mutation_p.Y538H	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	464					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TCTGTATCATAATTTGCAGTA	0.388													G	46322094	A	G	46322094	3	3	166	1	0	0	0	0	1	0	0	0	14177	362	13	3	3021	3	SFRS2IP	12	46322094	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	16417437	46322094	87529801	837	91379											
HDAC7	51564	broad.mit.edu	37	chr12	48192418	48192418	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacctgcaactcgggcatCggcgtgtccatggagagctg	13	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:48192418C>T	uc009zkv.1	-	2	374	c.159G>A	c.(157-159)CCG>CCA	p.P53P	HDAC7_uc010slo.1_Silent_p.P92P|HDAC7_uc001rqj.3_Silent_p.P92P|HDAC7_uc001rqk.3_Silent_p.P75P			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	53	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).|Interaction with MEF2C (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			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		ACTCGGGCATCGGCGTGTCCA	0.632													T	48192418	C	T	48192418	2	4	166	1	0	0	0	0	0	0	0	1	7012	871	31	1		1	HDAC7	12	48192418	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1870324	48192418	85659477	838	91380											
DDX23	9416	broad.mit.edu	37	chr12	49237796	49237796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcttattccgatcccGctccttatctcgttctcgtt	5	15	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:49237796G>A	uc001rsm.2	-	3	338	c.247C>T	c.(247-249)CGG>TGG	p.R83W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	83	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TTCCGATCCCGCTCCTTATCT	0.493													A	49237796	G	A	49237796	3	1	166	1	0	0	0	0	1	0	0	0	4350	1086	38	1	2275	1	DDX23	12	49237796	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1045378	49237796	84614099	839	91381											
MLL2	8085	broad.mit.edu	37	chr12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-													ataggcgcgatacctcaggtGggggggacataggtgattct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACA	0.632			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445526	G	-	49445526	7	5	166	1	0	1	0	1	0	0	0	0	9621	1348	47	0	14853	0	MLL2	12	49445526	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	207730	49445526	84406369	840	91382											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-													agtcagagaccaccagctatCccccccatgccacctggcat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	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						CCACCAGCTATCCCCCCCATG	0.607													-	50025258	C	-	50025258	7	5	166	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	579732	50025258	83826637	841	91383											
CSRNP2	81566	broad.mit.edu	37	chr12	51458168	51458168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttgagccgctccagttcCtctgcactctgcaggtgcat	10	15	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:51458168C>A	uc001rxu.1	-	5	1291	c.993G>T	c.(991-993)GAG>GAT	p.E331D		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	331					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTCCAGTTCCTCTGCACTCT	0.582													A	51458168	C	A	51458168	3	1	166	1	0	0	0	0	1	0	0	0	3964	680	24	5	642	5	CSRNP2	12	51458168	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1432910	51458168	82393727	842	91384											
KRT5	3852	broad.mit.edu	37	chr12	52910981	52910981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgttgcggaggtcatcGccatgccggccagctgtctg	15	11	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:52910981G>A	uc001san.2	-	6	1291	c.1128C>T	c.(1126-1128)GGC>GGT	p.G376G	KRT5_uc009zmh.2_Silent_p.G376G	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	376	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGTCATCGCCATGCCGGC	0.498													A	52910981	G	A	52910981	2	1	166	1	0	0	0	0	0	0	0	1	8479	1074	38	1		1	KRT5	12	52910981	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1452813	52910981	80940914	843	91385											
TARBP2	6895	broad.mit.edu	37	chr12	53899445	53899445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgacagggtgtgggctccCgcctggatggtcttcgaaac	14	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:53899445C>T	uc001sdo.2	+	8	1242	c.754C>T	c.(754-756)CGC>TGC	p.R252C	TARBP2_uc001sdp.2_Missense_Mutation_p.R231C|TARBP2_uc001sdq.2_Missense_Mutation_p.R108C|TARBP2_uc001sdr.2_Missense_Mutation_p.R108C|TARBP2_uc001sds.2_Missense_Mutation_p.P209L|TARBP2_uc001sdt.2_Missense_Mutation_p.R231C|TARBP2_uc001sdu.2_Missense_Mutation_p.R108C|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	252	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)	1						TGTGGGCTCCCGCCTGGATGG	0.547													T	53899445	C	T	53899445	3	4	166	1	0	0	0	0	1	0	0	0	15553	652	23	1	784	1	TARBP2	12	53899445	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	988464	53899445	79952450	844	91386											
ATF7	11016	broad.mit.edu	37	chr12	53928408	53928408	+	Frame_Shift_Del	DEL	G	G	-													ggacgtacaatggtgggtgtGggggtagagatcagaacagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:53928407_53928407TG>T	uc001sdy.3	-	4	493	c.472_472CA>A	c.(472-474)acafs	p.T158fs	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Frame_Shift_Del_p.T147fs|ATF7_uc010sol.2_Frame_Shift_Del_p.T126fs	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	158	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						ATGGTGGGTGTGGGGGTAGAG	0.493													-	53928408	G	-	53928408	7	5	166	1	0	1	0	1	0	0	0	0	1086	1335	47	0	1041	0	ATF7	12	53928408	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	28963	53928408	79923487	845	91387											
HOXC9	3225	broad.mit.edu	37	chr12	54396222	54396222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccctccaggcaaccccGtggccaactggattcacgcc	10	17	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:54396222G>A	uc001sep.2	+	3	645	c.547G>A	c.(547-549)GTG>ATG	p.V183M	HOXC9_uc001seq.2_Missense_Mutation_p.V183M	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	183					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						AGGCAACCCCGTGGCCAACTG	0.577													A	54396222	G	A	54396222	3	1	166	1	0	0	0	0	1	0	0	0	7317	1145	40	1	553	1	HOXC9	12	54396222	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	467814	54396222	79455673	846	91388											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925281	54925281	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggactacagaagctgGtggtggaaaacatggacata	12	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:54925281G>C	uc001sgc.3	+	24	2690	c.2611G>C	c.(2611-2613)GTG>CTG	p.V871L	NCKAP1L_uc010sox.1_Missense_Mutation_p.V413L|NCKAP1L_uc010soy.1_Missense_Mutation_p.V821L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	871					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			ovary(3)|central_nervous_system(1)	4						ACAGAAGCTGGTGGTGGAAAA	0.493													C	54925281	G	C	54925281	3	2	166	1	0	0	0	0	1	0	0	0	10222	1261	44	5	2705	5	NCKAP1L	12	54925281	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	529059	54925281	78926614	847	91389											
OR6C1	390321	broad.mit.edu	37	chr12	55714547	55714547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggattcccacctgcagaCccccatgtatttcttcctca	6	16	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:55714547C>T	uc010spi.1	+	1	164	c.164C>T	c.(163-165)ACC>ATC	p.T55I		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						CACCTGCAGACCCCCATGTAT	0.428													T	55714547	C	T	55714547	3	4	166	1	0	0	0	0	1	0	0	0	11190	507	18	4	166	4	OR6C1	12	55714547	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	789266	55714547	78137348	848	91390											
SMARCC2	6601	broad.mit.edu	37	chr12	56575376	56575376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgatctgaatctgggctGttcacctataggatggagaa	12	8	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:56575376G>A	uc001skb.2	-	10	952	c.846C>T	c.(844-846)AAC>AAT	p.N282N	SMARCC2_uc001skd.2_Silent_p.N282N|SMARCC2_uc001ska.2_Silent_p.N282N|SMARCC2_uc001skc.2_Silent_p.N282N|SMARCC2_uc010sqf.1_Silent_p.N171N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	282					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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AATCTGGGCTGTTCACCTATA	0.473													A	56575376	G	A	56575376	2	1	166	1	0	0	0	0	0	0	0	1	14776	1368	48	4		4	SMARCC2	12	56575376	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	860829	56575376	77276519	849	91391											
TIMELESS	8914	broad.mit.edu	37	chr12	56814799	56814799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaaggactaagctaccCtggacttgttctgcttctga	9	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:56814799C>A	uc001slf.2	-	24	3156	c.2988G>T	c.(2986-2988)CAG>CAT	p.Q996H		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	996					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				ovary(5)|breast(2)|pancreas(1)	8						CTAAGCTACCCTGGACTTGTT	0.498													A	56814799	C	A	56814799	3	1	166	1	0	0	0	0	1	0	0	0	15901	680	24	5	662	5	TIMELESS	12	56814799	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	239423	56814799	77037096	850	91392											
BAZ2A	11176	broad.mit.edu	37	chr12	56992956	56992956	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttccgcatagagagtcGccgccgcttggagggggaga	18	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:56992956G>A	uc001slq.1	-	27	5559	c.5365C>T	c.(5365-5367)CGA>TGA	p.R1789*	BAZ2A_uc001slp.1_Nonsense_Mutation_p.R1787*|BAZ2A_uc001slo.1_Nonsense_Mutation_p.R595*|BAZ2A_uc009zov.1_Nonsense_Mutation_p.R755*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.R1757*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1789					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				0						ATAGAGAGTCGCCGCCGCTTG	0.622													A	56992956	G	A	56992956	4	1	166	1	0	0	0	0	0	1	0	0	1331	1095	38	1	364	1	BAZ2A	12	56992956	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	178157	56992956	76858939	851	91393											
C12orf66	144577	broad.mit.edu	37	chr12	64615816	64615816	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtaggtgaggctgtgatAgaccttctcggccgcggcca	15	11	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:64615816A>C	uc001srw.3	-	1	261	c.202T>G	c.(202-204)TAT>GAT	p.Y68D	uc001srx.2_5'Flank|C12orf66_uc009zql.2_Intron	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	68										ovary(1)	1						AGGCTGTGATAGACCTTCTCG	0.652													C	64615816	A	C	64615816	3	2	166	1	0	0	0	0	1	0	0	0	1709	420	15	5	1147	5	C12orf66	12	64615816	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	7622860	64615816	69236079	852	91394											
C12orf66	144577	broad.mit.edu	37	chr12	64615836	64615836	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccttctcggccgcggccAggtgcgccaaggccgccagc	14	17	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:64615836A>C	uc001srw.3	-	1	241	c.182T>G	c.(181-183)CTG>CGG	p.L61R	uc001srx.2_5'Flank|C12orf66_uc009zql.2_Intron	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	61										ovary(1)	1						GGCCGCGGCCAGGTGCGCCAA	0.637													C	64615836	A	C	64615836	3	2	166	1	0	0	0	0	1	0	0	0	1709	188	7	5	1167	5	C12orf66	12	64615836	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	20	64615836	69236059	853	91395											
LEMD3	23592	broad.mit.edu	37	chr12	65639549	65639549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagtagacaaaaattcaCgtgaggtaaagtaacttttg	9	5	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:65639549C>T	uc001ssl.1	+	11	2494	c.2488C>T	c.(2488-2490)CGT>TGT	p.R830C	LEMD3_uc009zqo.1_Missense_Mutation_p.R829C	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	830	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				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			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CAAAAATTCACGTGAGGTAAA	0.323													T	65639549	C	T	65639549	3	4	166	1	0	0	0	0	1	0	0	0	8721	536	19	1	2530	1	LEMD3	12	65639549	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1023713	65639549	68212346	854	91396											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-													tgctgttctttttgttgccaTtttttactggctgactgaag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:72038780_72038780AT>A	uc001swo.2	-	3	1515	c.1156_1156AT>T	c.(1156-1158)tggfs	p.W386fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	386					RNA processing	intracellular	metal ion binding	p.K385fs*9(1)		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						TTTTGTTGCCATTTTTTACTG	0.353													-	72038781	T	-	72038781	7	5	166	1	0	1	0	1	0	0	0	0	17630	1490	52	0	4942	0	ZFC3H1	12	72038781	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	6399232	72038781	61813114	855	91397											
CAPS2	84698	broad.mit.edu	37	chr12	75692742	75692742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgcaagcatcacgtcCattactggaaaaatagaatg	7	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:75692742C>T	uc001sxk.3	-	11	1113	c.916G>A	c.(916-918)GGA>AGA	p.G306R	CAPS2_uc001sxm.3_Missense_Mutation_p.G74R|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.G287R	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	306							calcium ion binding			ovary(2)	2						GCATCACGTCCATTACTGGAA	0.323													T	75692742	C	T	75692742	3	4	166	1	0	0	0	0	1	0	0	0	2638	603	21	4	789	4	CAPS2	12	75692742	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3653961	75692742	58159153	856	91398											
MGAT4C	25834	broad.mit.edu	37	chr12	86374168	86374168	+	Frame_Shift_Del	DEL	T	T	-													gtctcaagtaaatagtttccTttttttcgctttactgaaga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:86374167_86374167CT>C	uc010sum.2	-	5	568	c.409_409AG>G	c.(409-411)ggafs	p.G137fs	MGAT4C_uc001tal.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.G113fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	113					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	p.G113*(1)		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						AAATAGTTTCCTTTTTTTCGC	0.328													-	86374168	T	-	86374168	7	5	166	1	0	1	0	1	0	0	0	0	9547	1606	56	0	1104	0	MGAT4C	12	86374168	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	10681426	86374168	47477727	857	91399											
CEP290	80184	broad.mit.edu	37	chr12	88477714	88477714	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtcttcctcatgtttcttCacaatttctctttgctcctg	5	12	5	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:88477714C>T	uc001tar.2	-	36	5066	c.4722G>A	c.(4720-4722)GTG>GTA	p.V1574V	CEP290_uc001taq.2_Silent_p.V634V	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1574	Potential.				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			ovary(5)|breast(1)|pancreas(1)	7						CATGTTTCTTCACAATTTCTC	0.308													T	88477714	C	T	88477714	2	4	166	1	0	0	0	0	0	0	0	1	3253	813	29	4		4	CEP290	12	88477714	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2103546	88477714	45374181	858	91400											
ATP2B1	490	broad.mit.edu	37	chr12	90028898	90028899	+	Frame_Shift_Ins	INS	-	-	T													tctgcaaacctctaaactgtINSttttccttactccagtcatt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:90028897_90028898G>GT	uc001tbh.3	-	2	718_719	c.537_538C>AC	c.(535-540)aaacagfs	p.K179fs	ATP2B1_uc001tbg.3_Frame_Shift_Ins_p.K179fs	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	179					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						CCTCTAAACTGTTTTTCCTTAC	0.441													T	90028899	-	T	90028898	7	5	166	1	0	1	1	0	0	0	0	0	1139	1722	60	0	3355	0	ATP2B1	12	90028898	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1551184	90028898	43822997	859	91401											
CDK17	5128	broad.mit.edu	37	chr12	96692660	96692660	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attataccttctcttatagcTgtgcagggtgcaccttcttc	7	11	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:96692660T>G	uc001tep.1	-	7	1191	c.702A>C	c.(700-702)ACA>ACC	p.T234T	CDK17_uc009ztk.2_Silent_p.T234T|CDK17_uc010svb.1_Silent_p.T181T	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	234	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						CTCTTATAGCTGTGCAGGGTG	0.323													G	96692660	T	G	96692660	2	3	166	1	0	0	0	0	0	0	0	1	3133	1567	55	5		5	CDK17	12	96692660	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	6663762	96692660	37159235	860	91402											
TXNRD1	7296	broad.mit.edu	37	chr12	104705167	104705167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatcattggaggtggcTcaggaggtctggcagctgct	14	8	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:104705167T>C	uc010swk.1	+	5	536	c.514T>C	c.(514-516)TCA>CCA	p.S172P	TXNRD1_uc010swl.1_Missense_Mutation_p.S22P|TXNRD1_uc010swm.1_Missense_Mutation_p.S74P|TXNRD1_uc010swn.1_Missense_Mutation_p.S22P|TXNRD1_uc010swo.1_Missense_Mutation_p.S22P|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Missense_Mutation_p.S72P|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.S88P|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA|TXNRD1_uc001tkv.1_RNA	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	172					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				0						TGGAGGTGGCTCAGGAGGTCT	0.478													C	104705167	T	C	104705167	3	2	166	1	0	0	0	0	1	0	0	0	16804	1551	54	3	546	3	TXNRD1	12	104705167	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	8012507	104705167	29146728	861	91403											
ALDH1L2	160428	broad.mit.edu	37	chr12	105464436	105464436	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggactatcaattatatccaTgggaatgaactgagtgcaga	10	6	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:105464436T>C	uc001tlc.2	-	3	467	c.340A>G	c.(340-342)ATG>GTG	p.M114V	ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	114	GART.				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			skin(1)	1						ATTATATCCATGGGAATGAAC	0.478													C	105464436	T	C	105464436	3	2	166	1	0	0	0	0	1	0	0	0	495	1464	51	3	2515	3	ALDH1L2	12	105464436	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	759269	105464436	28387459	862	91404											
KIAA1033	23325	broad.mit.edu	37	chr12	105540264	105540264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattatgagaaacattcAtatatttgtgtcccgatacc	6	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:105540264A>G	uc001tld.2	+	23	2456	c.2369A>G	c.(2368-2370)CAT>CGT	p.H790R	KIAA1033_uc010swr.1_Missense_Mutation_p.H791R|KIAA1033_uc010sws.1_Missense_Mutation_p.H602R	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	790					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AGAAACATTCATATATTTGTG	0.294													G	105540264	A	G	105540264	3	3	166	1	0	0	0	0	1	0	0	0	8206	217	8	3	2459	3	KIAA1033	12	105540264	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	75828	105540264	28311631	863	91405											
CKAP4	10970	broad.mit.edu	37	chr12	106633328	106633328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctctcggtctggcgcGcagaagccacctgcatggag	14	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:106633328G>A	uc001tlk.2	-	2	1367	c.1283C>T	c.(1282-1284)GCG>GTG	p.A428V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	428	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						GGTCTGGCGCGCAGAAGCCAC	0.662													A	106633328	G	A	106633328	3	1	166	1	0	0	0	0	1	0	0	0	3444	1087	38	1	529	1	CKAP4	12	106633328	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1093064	106633328	27218567	864	91406											
CUX2	23316	broad.mit.edu	37	chr12	111779614	111779614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgctatggcctcatcaGcaccggctcagacagtgagt	11	13	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:111779614G>A	uc001tsa.1	+	21	3569	c.3416G>A	c.(3415-3417)AGC>AAC	p.S1139N		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GGCCTCATCAGCACCGGCTCA	0.652													A	111779614	G	A	111779614	3	1	166	1	0	0	0	0	1	0	0	0	4065	971	34	2	3498	2	CUX2	12	111779614	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5146286	111779614	22072281	865	91407											
BRAP	8315	broad.mit.edu	37	chr12	112121078	112121078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagctgaggctagtgtcGtcttttttatctcctcatca	7	11	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:112121078G>A	uc001tsn.3	-	2	310	c.116C>T	c.(115-117)ACG>ATG	p.T39M	BRAP_uc010syh.1_5'Flank|BRAP_uc009zvv.2_Missense_Mutation_p.T9M|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.3_5'Flank|ACAD10_uc001tsp.2_5'Flank|ACAD10_uc009zvx.2_5'Flank|ACAD10_uc001tsq.2_5'Flank	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	39					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			lung(1)	1						GGCTAGTGTCGTCTTTTTTAT	0.433													A	112121078	G	A	112121078	3	1	166	1	0	0	0	0	1	0	0	0	1497	1145	40	1	1706	1	BRAP	12	112121078	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	341464	112121078	21730817	866	91408											
ACAD10	80724	broad.mit.edu	37	chr12	112182668	112182668	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccagaagcttccccagctCatacctcaaggggaggtctg	10	13	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:112182668C>T	uc001tsq.2	+	13	2136	c.1936C>T	c.(1936-1938)CAT>TAT	p.H646Y	ACAD10_uc001tsp.2_Missense_Mutation_p.H646Y|ACAD10_uc009zvx.2_Missense_Mutation_p.H677Y|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	646							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TTCCCCAGCTCATACCTCAAG	0.572													T	112182668	C	T	112182668	3	4	166	1	0	0	0	0	1	0	0	0	108	826	29	4	2079	4	ACAD10	12	112182668	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	61590	112182668	21669227	867	91409											
IQCD	115811	broad.mit.edu	37	chr12	113633445	113633445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgtcctttgctttgcCcttgccccgcttcttcttgg	7	16	2	0	rs117969623	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:113633445C>A	uc001tuu.2	-	3	1151	c.979G>T	c.(979-981)GGC>TGC	p.G327C		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:Variant_position_missing_in_Q96DY2_after_alignment										ovary(1)	1						tttgctttgcccttgccccgc	0.378													A	113633445	C	A	113633445	3	1	166	1	0	0	0	0	1	0	0	0	7805	623	22	5	68	5	IQCD	12	113633445	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1450777	113633445	20218450	868	91410											
SLC24A6	80024	broad.mit.edu	37	chr12	113758221	113758223	+	In_Frame_Del	DEL	GAA	GAA	-													atgtagaaaacgatgtccctGaagaagggcctggaggcagc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:113758220_113758222TGAA>T	uc001tvc.3	-	6	818_820	c.608_610TTCA>A	c.(607-612)ttcagg>tAgg	p.203_204FR>*	SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Intron	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	203					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						ACGATGTCCCTGAAGAAGGGCCT	0.621													-	113758223	GAA	-	113758221	7	5	166	1	0	1	0	1	0	0	0	0	14470	1281	45	0	1185	0	SLC24A6	12	113758221	In_Frame_Del	DEL	GAA	TCGA-CG-4306-01A-01D-1158-08	124776	113758221	20093674	869	91411											
PLBD2	196463	broad.mit.edu	37	chr12	113821994	113821994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtgctggagtgggtaCgcaacatcgtggccaaccgc	15	11	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:113821994C>T	uc001tve.2	+	7	1077	c.1042C>T	c.(1042-1044)CGC>TGC	p.R348C	PLBD2_uc001tvf.2_Missense_Mutation_p.R348C	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	348					lipid catabolic process	lysosomal lumen	hydrolase activity				0						GGAGTGGGTACGCAACATCGT	0.617													T	113821994	C	T	113821994	3	4	166	1	0	0	0	0	1	0	0	0	12026	536	19	1	1068	1	PLBD2	12	113821994	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	63773	113821994	20029901	870	91412											
TAOK3	51347	broad.mit.edu	37	chr12	118636867	118636867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctactttcttatgcaCgacggaggagctggaattga	11	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:118636867C>T	uc001twx.2	-	13	1478	c.1183G>A	c.(1183-1185)GTG>ATG	p.V395M	TAOK3_uc001tww.2_Missense_Mutation_p.V225M|TAOK3_uc001twy.3_Missense_Mutation_p.V395M	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	395					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTTATGCACGACGGAGGAG	0.468													T	118636867	C	T	118636867	3	4	166	1	0	0	0	0	1	0	0	0	15546	536	19	1	1549	1	TAOK3	12	118636867	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4814873	118636867	15215028	871	91413											
SUDS3	64426	broad.mit.edu	37	chr12	118852224	118852224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcttcgtgatccgccggCgctcagctgcttgactttct	11	14	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:118852224C>T	uc001twz.2	+	12	1112	c.973C>T	c.(973-975)CGC>TGC	p.R325C		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	325					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATCCGCCGGCGCTCAGCTGC	0.488													T	118852224	C	T	118852224	3	4	166	1	0	0	0	0	1	0	0	0	15366	768	27	1	1019	1	SUDS3	12	118852224	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	215357	118852224	14999671	872	91414											
CIT	11113	broad.mit.edu	37	chr12	120128233	120128233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatgtgctcgttgtacGtgggtgggcctcgcttgttg	17	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:120128233G>A	uc001txi.1	-	46	5836	c.5783C>T	c.(5782-5784)ACG>ATG	p.T1928M	CIT_uc001txh.1_Missense_Mutation_p.T1446M|CIT_uc001txj.1_Missense_Mutation_p.T1970M	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1928					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCGTTGTACGTGGGTGGGCC	0.662													A	120128233	G	A	120128233	3	1	166	1	0	0	0	0	1	0	0	0	3438	1145	40	1	308	1	CIT	12	120128233	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1276009	120128233	13723662	873	91415											
GCN1L1	10985	broad.mit.edu	37	chr12	120591043	120591043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggggtggagagggcagCgatgagcttggcaacaatgg	21	5	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:120591043C>T	uc001txo.2	-	33	4049	c.4036G>A	c.(4036-4038)GCT>ACT	p.A1346T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1346	HEAT 6.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAGGGCAGCGATGAGCTTG	0.597													T	120591043	C	T	120591043	3	4	166	1	0	0	0	0	1	0	0	0	6299	768	27	1	4083	1	GCN1L1	12	120591043	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	462810	120591043	13260852	874	91416											
MLEC	9761	broad.mit.edu	37	chr12	121134158	121134159	+	In_Frame_Ins	INS	-	-	AAG													catccgggattggagaagaaINSagaagaggaagaagaagaag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:121134157_121134158A>AAAG	uc001tyy.1	+	4	839_840	c.688_689A>AAAG	c.(688-690)aaa>AAAGa	p.K230K		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	230					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						ATTGGagaagaaagaagaggaa	0.446													AAG	121134159	-	AAG	121134158	7	5	166	1	0	1	1	0	0	0	0	0	9613	14	1	0	707	0	MLEC	12	121134158	In_Frame_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	543115	121134158	12717737	875	91417											
P2RX4	5025	broad.mit.edu	37	chr12	121666642	121666643	+	Frame_Shift_Del	DEL	AC	AC	-													aaaatagtggagaacgcaggAcacagtttccaggacatggc					rs141679606	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:121666641_121666642GAC>G	uc001tzr.3	+	6	1023_1024	c.719_720GAC>G	c.(718-720)ggafs	p.G240fs	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Non-coding_Transcript|P2RX4_uc009zxc.3_Frame_Shift_Del_p.G213fs|P2RX4_uc010szt.2_Frame_Shift_Del_p.G139fs|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	240					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	p.E237fs*97(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAACGCAGGACACAGTTTCC	0.564													-	121666643	AC	-	121666642	7	5	166	1	0	1	0	1	0	0	0	0	11342	262	10	0	746	0	P2RX4	12	121666642	Frame_Shift_Del	DEL	AC	TCGA-CG-4306-01A-01D-1158-08	532484	121666642	12185253	876	91418											
CCDC62	84660	broad.mit.edu	37	chr12	123286259	123286259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccacccgagtaacttcatAattgaagccccaggccacat	7	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123286259A>G	uc001udc.2	+	9	1711	c.1566A>G	c.(1564-1566)ATA>ATG	p.I522M	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.I522M|CCDC62_uc001ude.2_Missense_Mutation_p.I283M	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	522						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	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)		GTAACTTCATAATTGAAGCCC	0.493													G	123286259	A	G	123286259	3	3	166	1	0	0	0	0	1	0	0	0	2833	352	13	3	1600	3	CCDC62	12	123286259	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1619617	123286259	10565636	877	91419											
ABCB9	23457	broad.mit.edu	37	chr12	123433334	123433334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgggagaccaggtcgCtgaccatggtggtgtccgag	16	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123433334C>T	uc001udm.3	-	5	1200	c.890G>A	c.(889-891)AGC>AAC	p.S297N	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.S297N|ABCB9_uc010taj.1_Missense_Mutation_p.S297N|ABCB9_uc001udp.2_Missense_Mutation_p.S297N|ABCB9_uc001udq.2_Missense_Mutation_p.S79N|ABCB9_uc001udr.2_Missense_Mutation_p.S297N	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	297	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				0	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)		GACCAGGTCGCTGACCATGGT	0.617													T	123433334	C	T	123433334	3	4	166	1	0	0	0	0	1	0	0	0	48	797	28	2	1442	2	ABCB9	12	123433334	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	147075	123433334	10418561	878	91420											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687402	123687402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttttccaagagtccaccGgagaagcttttgtgtgtgag	12	7	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123687402G>A	uc001uel.2	-	6	1201	c.1094C>T	c.(1093-1095)CCG>CTG	p.P365L	MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	365					M phase of mitotic cell cycle	centriole|Golgi membrane					0	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)		AGAGTCCACCGGAGAAGCTTT	0.408													A	123687402	G	A	123687402	3	1	166	1	0	0	0	0	1	0	0	0	9728	1116	39	1	2061	1	MPHOSPH9	12	123687402	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	254068	123687402	10164493	879	91421											
C12orf65	91574	broad.mit.edu	37	chr12	123741554	123741554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctacttaaagaactgtgGgagtcaagtaaaaaggtcca	10	6	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123741554G>T	uc001uen.2	+	3	743	c.477G>T	c.(475-477)TGG>TGT	p.W159C	C12orf65_uc001ueo.2_RNA|C12orf65_uc010tan.1_Missense_Mutation_p.W159C	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	hypothetical protein LOC91574	159	Potential.					mitochondrion	translation release factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAGAACTGTGGGAGTCAAGTA	0.313													T	123741554	G	T	123741554	3	4	166	1	0	0	0	0	1	0	0	0	1708	1241	43	5	483	5	C12orf65	12	123741554	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	54152	123741554	10110341	880	91422											
DDX55	57696	broad.mit.edu	37	chr12	124102324	124102324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttcgtgcatcgctgcGgtcgcacagctcgcattggc	13	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:124102324G>A	uc001ufi.2	+	11	1093	c.1069G>A	c.(1069-1071)GGT>AGT	p.G357S	DDX55_uc001ufh.2_Missense_Mutation_p.G210S|DDX55_uc001ufj.1_Missense_Mutation_p.G210S|DDX55_uc001ufk.2_Missense_Mutation_p.G210S|DDX55_uc001ufl.2_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	357	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GCATCGCTGCGGTCGCACAGC	0.517													A	124102324	G	A	124102324	3	1	166	1	0	0	0	0	1	0	0	0	4373	1116	39	1	1111	1	DDX55	12	124102324	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	360770	124102324	9749571	881	91423											
NCOR2	9612	broad.mit.edu	37	chr12	124812140	124812140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccatgttggtgctgGcatgttcctgcaccgcctgg	12	15	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:124812140G>A	uc010tay.1	-	47	7184	c.7028C>T	c.(7027-7029)GCC>GTC	p.A2343V	NCOR2_uc010taz.1_Missense_Mutation_p.A2327V|NCOR2_uc010tax.1_Intron	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2344					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			skin(3)|ovary(1)	4	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)		GTTGGTGCTGGCATGTTCCTG	0.512													A	124812140	G	A	124812140	3	1	166	1	0	0	0	0	1	0	0	0	10236	1203	42	2	558	2	NCOR2	12	124812140	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	709816	124812140	9039755	882	91424											
NCOR2	9612	broad.mit.edu	37	chr12	124832801	124832802	+	Frame_Shift_Ins	INS	-	-	G													ttgggggcggccgtctcatgINSggggggtcctgagctgcttc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:124832800_124832801T>TG	uc021rga.1	-	28	4042_4043	c.3925_3926A>CA	c.(3925-3927)catfs	p.H1309fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.H1293fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.H1302fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.H1292fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.H1292fs|NCOR2_uc010tba.2_Frame_Shift_Ins_p.H1310fs|NCOR2_uc001ugj.1_Frame_Shift_Ins_p.H1310fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	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|Notch binding|histone deacetylase 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)		GGCCGTCTCATGGGGGGGTCCT	0.629											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	124832802	-	G	124832801	7	5	166	1	0	1	1	0	0	0	0	0	10236	1348	47	0	3716	0	NCOR2	12	124832801	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	20661	124832801	9019094	883	91425											
SCARB1	949	broad.mit.edu	37	chr12	125292364	125292364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcacgggcagaagccttCgttgggtgggtagatggacc	17	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:125292364C>T	uc001ugo.3	-	7	1205	c.952G>A	c.(952-954)GAA>AAA	p.E318K	SCARB1_uc001ugn.3_Missense_Mutation_p.E318K|SCARB1_uc001ugm.3_Missense_Mutation_p.E318K|SCARB1_uc010tbd.1_Missense_Mutation_p.E318K|SCARB1_uc010tbe.1_Missense_Mutation_p.E277K|SCARB1_uc001ugp.3_Missense_Mutation_p.E318K	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	318	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAGAAGCCTTCGTTGGGTGGG	0.587													T	125292364	C	T	125292364	3	4	166	1	0	0	0	0	1	0	0	0	13881	893	31	1	725	1	SCARB1	12	125292364	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	459563	125292364	8559531	884	91426											
BRI3BP	140707	broad.mit.edu	37	chr12	125509930	125509930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagactgctcaacatccGtctcaaccgggtgctcgaga	11	13	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:125509930G>A	uc001uha.1	+	3	853	c.710G>A	c.(709-711)CGT>CAT	p.R237H		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	237	Potential.					integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CTCAACATCCGTCTCAACCGG	0.537													A	125509930	G	A	125509930	3	1	166	1	0	0	0	0	1	0	0	0	1513	1145	40	1	720	1	BRI3BP	12	125509930	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	217566	125509930	8341965	885	91427											
TMEM132B	114795	broad.mit.edu	37	chr12	126137090	126137090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagctcgtagctggcaTgtctctctccctgcagccac	10	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:126137090T>C	uc001uhe.1	+	8	2011	c.2003T>C	c.(2002-2004)ATG>ACG	p.M668T	TMEM132B_uc001uhf.1_Missense_Mutation_p.M180T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	668	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	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)		GTAGCTGGCATGTCTCTCTCC	0.597													C	126137090	T	C	126137090	3	2	166	1	0	0	0	0	1	0	0	0	16043	1464	51	3	2033	3	TMEM132B	12	126137090	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	627160	126137090	7714805	886	91428											
GLT1D1	144423	broad.mit.edu	37	chr12	129383782	129383782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttgttcatttactagaTttgctgtcgctttcacagag	7	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:129383782T>G	uc010tbh.1	+	4	301	c.292T>G	c.(292-294)TTT>GTT	p.F98V	GLT1D1_uc001uhx.1_Missense_Mutation_p.F109V|GLT1D1_uc001uhy.1_Intron	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	109					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	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)		ATTTACTAGATTTGCTGTCGC	0.363													G	129383782	T	G	129383782	3	3	166	1	0	0	0	0	1	0	0	0	6465	1507	52	5	339	5	GLT1D1	12	129383782	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	3246692	129383782	4468113	887	91429											
TMEM132D	121256	broad.mit.edu	37	chr12	130184752	130184752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctcggccacgcacaGccccaggtccccctgcagcc	9	22	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:130184752G>A	uc009zyl.1	-	2	899	c.571C>T	c.(571-573)CTG>TTG	p.L191L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	191	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		GCCACGCACAGCCCCAGGTCC	0.716													A	130184752	G	A	130184752	2	1	166	1	0	0	0	0	0	0	0	1	16044	962	34	2		2	TMEM132D	12	130184752	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	800970	130184752	3667143	888	91430											
GPR133	283383	broad.mit.edu	37	chr12	131569208	131569208	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcaggtggtcccgctggaGgtaagagccaggcctcaggg	17	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:131569208G>T	uc001uit.3	+	15	2230	c.1671G>T	c.(1669-1671)GAG>GAT	p.E557D	GPR133_uc010tbm.1_Missense_Mutation_p.E589D|GPR133_uc009zyo.2_Missense_Mutation_p.E7D|GPR133_uc001uiv.1_Missense_Mutation_p.E76D	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	557	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	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)		TCCCGCTGGAGGTAAGAGCCA	0.662													T	131569208	G	T	131569208	3	4	166	1	0	0	0	0	1	0	0	0	6643	1014	35	5	1729	5	GPR133	12	131569208	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1384456	131569208	2282687	889	91431											
ULK1	8408	broad.mit.edu	37	chr12	132394519	132394519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctggccctactgcaaCgcaaccacaaggaccgcatg	9	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:132394519C>T	uc001uje.2	+	10	1049	c.781C>T	c.(781-783)CGC>TGC	p.R261C		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	261	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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		CCTACTGCAACGCAACCACAA	0.687													T	132394519	C	T	132394519	3	4	166	1	0	0	0	0	1	0	0	0	16972	536	19	1	819	1	ULK1	12	132394519	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	825311	132394519	1457376	890	91432											
P2RX2	22953	broad.mit.edu	37	chr12	133195509	133195509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgcccaaggtgatcgtggTgaggaaccggcgcctggggg	19	10	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:133195509T>C	uc001ukj.1	+	1	107	c.107T>C	c.(106-108)GTG>GCG	p.V36A	P2RX2_uc001uki.1_Missense_Mutation_p.V36A|P2RX2_uc001ukk.1_Missense_Mutation_p.V36A|P2RX2_uc001ukl.1_Missense_Mutation_p.V36A|P2RX2_uc001ukm.1_Splice_Site_p.V35_splice|P2RX2_uc001ukn.1_Splice_Site_p.V35_splice|P2RX2_uc009zyt.1_Missense_Mutation_p.V36A|P2RX2_uc001uko.1_Missense_Mutation_p.V36A	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	36	Cytoplasmic (Potential).				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				0	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)		GTGATCGTGGTGAGGAACCGG	0.433													C	133195509	T	C	133195509	3	2	166	1	0	0	0	0	1	0	0	0	11340	1710	59	3	109	3	P2RX2	12	133195509	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	800990	133195509	656386	891	91433											
POLE	5426	broad.mit.edu	37	chr12	133257271	133257271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcttcatctaaaatctcGgtctacaagagaatcagtca	5	9	7	1	rs146986360	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:133257271G>A	uc001uks.1	-	3	251	c.207C>T	c.(205-207)ACC>ACT	p.T69T	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Intron	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	69					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		CTAAAATCTCGGTCTACAAGA	0.428								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133257271	G	A	133257271	2	1	166	1	0	0	0	0	0	0	0	1	12196	1103	39	1		1	POLE	12	133257271	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	61762	133257271	594624	892	91434											
ZNF10	7556	broad.mit.edu	37	chr12	133732701	133732702	+	Frame_Shift_Ins	INS	-	-	A													cagcttattcatactggagaINSaaaaccctatgagtgtaaag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:133732700_133732701G>GA	uc009zzb.3	+	4	1315_1316	c.868_869G>GA	c.(868-870)gaafs	p.E290fs	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Frame_Shift_Ins_p.E290fs	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	290					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)		TCATACTGGAGAAAAACCCTAT	0.416													A	133732702	-	A	133732701	7	5	166	1	0	1	1	0	0	0	0	0	17709	246	9	0	883	0	ZNF10	12	133732701	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	475430	133732701	119194	893	91435											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465713	24465714	+	Frame_Shift_Ins	INS	-	-	C													caatgtggcacgtgaatttcINScccactgctgtatcataatg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:24465712_24465713T>TC	uc010tcw.2	-	2	737_738	c.717_718A>GA	c.(715-720)gggaaafs	p.G239fs	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Frame_Shift_Ins_p.G239fs	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	239	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CACGTGAATTTCCCCACTGCTG	0.421													C	24465714	-	C	24465713	7	5	166	1	0	1	1	0	0	0	0	0	1971	842	30	0	287	0	C1QTNF9B	13	24465713	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08		24465713	90704165	894	91436											
ATP12A	479	broad.mit.edu	37	chr13	25262530	25262530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacccctcccaagcagaCgcctgagatcgtcaagttcc	7	18	2	2	rs146927457		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25262530C>T	uc001upp.2	+	4	489	c.302C>T	c.(301-303)ACG>ATG	p.T101M	ATP12A_uc010aaa.2_Missense_Mutation_p.T101M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	101	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCAAGCAGACGCCTGAGATC	0.587													T	25262530	C	T	25262530	3	4	166	1	0	0	0	0	1	0	0	0	1122	536	19	1	316	1	ATP12A	13	25262530	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	796817	25262530	89907348	895	91437											
ATP12A	479	broad.mit.edu	37	chr13	25265317	25265317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgaagtatcaagtcCtggactccatcatcttcctc	6	14	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25265317C>A	uc001upp.2	+	8	1184	c.997C>A	c.(997-999)CTG>ATG	p.L333M	ATP12A_uc010aaa.2_Missense_Mutation_p.L339M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	333	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTATCAAGTCCTGGACTCCAT	0.527													A	25265317	C	A	25265317	3	1	166	1	0	0	0	0	1	0	0	0	1122	680	24	5	1045	5	ATP12A	13	25265317	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2787	25265317	89904561	896	91438											
ATP12A	479	broad.mit.edu	37	chr13	25266681	25266681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcggacaagactgggAcactgacccagaacaggatg	12	11	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25266681A>G	uc001upp.2	+	9	1370	c.1183A>G	c.(1183-1185)ACA>GCA	p.T395A	ATP12A_uc010aaa.2_Missense_Mutation_p.T401A	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	395	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAAGACTGGGACACTGACCCA	0.532													G	25266681	A	G	25266681	3	3	166	1	0	0	0	0	1	0	0	0	1122	275	10	3	1235	3	ATP12A	13	25266681	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1364	25266681	89903197	897	91439											
CENPJ	55835	broad.mit.edu	37	chr13	25478079	25478079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacctgagtttttccaagGcactttctcgttcaatgcga	8	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25478079G>A	uc001upt.3	-	8	3063	c.2810C>T	c.(2809-2811)GCC>GTC	p.A937V	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'UTR	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	937					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			ovary(2)	2		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)		TTTTTCCAAGGCACTTTCTCG	0.353													A	25478079	G	A	25478079	3	1	166	1	0	0	0	0	1	0	0	0	3234	1203	42	2	1246	2	CENPJ	13	25478079	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	211398	25478079	89691799	898	91440											
RASL11A	387496	broad.mit.edu	37	chr13	27845850	27845850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggatactcccgggggcGtccaggtaagaaccgccagg	14	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:27845850G>A	uc001urd.1	+	3	874	c.256G>A	c.(256-258)GTC>ATC	p.V86I		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	86	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TCCCGGGGGCGTCCAGGTAAG	0.622											OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27845850	G	A	27845850	3	1	166	1	0	0	0	0	1	0	0	0	13081	1145	40	1	266	1	RASL11A	13	27845850	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2367771	27845850	87324028	899	91441											
UBL3	5412	broad.mit.edu	37	chr13	30341433	30341433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctctccagtcttctcacGattcctctgacctagggaaa	6	14	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:30341433G>A	uc001usp.2	-	5	1458	c.313C>T	c.(313-315)CGT>TGT	p.R105C		NM_007106	NP_009037	O95164	UBL3_HUMAN	ubiquitin-like 3 precursor	105						intracellular|plasma membrane					0		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		GTCTTCTCACGATTCCTCTGA	0.423													A	30341433	G	A	30341433	3	1	166	1	0	0	0	0	1	0	0	0	16883	1058	37	1	44	1	UBL3	13	30341433	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2495583	30341433	84828445	900	91442											
HSPH1	10808	broad.mit.edu	37	chr13	31712653	31712653	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attccatcacttcattaacaGacttctccacttttttcatt	1	12	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:31712653G>T	uc001utj.2	-	17	2659	c.2261C>A	c.(2260-2262)TCT>TAT	p.S754Y	HSPH1_uc001utk.2_Missense_Mutation_p.S710Y|HSPH1_uc010aaw.2_Missense_Mutation_p.S713Y|HSPH1_uc001utl.2_Missense_Mutation_p.S756Y|HSPH1_uc010tds.1_Missense_Mutation_p.S678Y	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	754					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		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)		TTCATTAACAGACTTCTCCAC	0.343													T	31712653	G	T	31712653	3	4	166	1	0	0	0	0	1	0	0	0	7431	942	33	5	323	5	HSPH1	13	31712653	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1371220	31712653	83457225	901	91443											
STARD13	90627	broad.mit.edu	37	chr13	33685010	33685010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatctcagcctccacatacGagttacgagactgggccacc	10	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:33685010G>A	uc001uuw.2	-	11	2768	c.2642C>T	c.(2641-2643)TCG>TTG	p.S881L	STARD13_uc001uuu.2_Missense_Mutation_p.S873L|STARD13_uc001uuv.2_Missense_Mutation_p.S763L|STARD13_uc001uux.2_Missense_Mutation_p.S846L|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	881					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	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)		CTCCACATACGAGTTACGAGA	0.532													A	33685010	G	A	33685010	3	1	166	1	0	0	0	0	1	0	0	0	15255	1059	37	1	715	1	STARD13	13	33685010	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1972357	33685010	81484868	902	91444											
SLC25A15	10166	broad.mit.edu	37	chr13	41381560	41381560	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggtggctatgaactgagcCggtccttttttgcatcaggg	13	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:41381560C>A	uc001uxn.2	+	5	905	c.583C>A	c.(583-585)CGG>AGG	p.R195R	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Silent_p.R101R|SUGT1L1_uc001uxo.1_RNA	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	195	Solcar 2.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TGAACTGAGCCGGTCCTTTTT	0.468													A	41381560	C	A	41381560	2	1	166	1	0	0	0	0	0	0	0	1	14477	643	23	5		5	SLC25A15	13	41381560	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	7696550	41381560	73788318	903	91445											
NAA16	79612	broad.mit.edu	37	chr13	41941577	41941577	+	Splice_Site	DEL	T	T	-													gtgatttttgtttttaagcaTttttttgagataactgatga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:41941576_41941576AT>A	uc001uyf.2	+	14	1864	c.1540_splice	c.e14-1	p.H514_splice	NAA16_uc010tfg.1_Splice_Site	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	514					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						GTTTTTAAGCATTTTTTTGAG	0.289													-	41941577	T	-	41941577	8	5	166	1	0	1	0	1	0	0	1	0	10119	1490	52	0	1629	0	NAA16	13	41941577	Splice_Site	DEL	T	TCGA-CG-4306-01A-01D-1158-08	560017	41941577	73228301	904	91446											
ZC3H13	23091	broad.mit.edu	37	chr13	46541933	46541933	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctctctctcgttctcGttctcgcaatctatctcgat	5	14	6	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:46541933G>A	uc010tfw.1	-	14	4033	c.4027C>T	c.(4027-4029)CGA>TGA	p.R1343*	ZC3H13_uc001vaq.2_Translation_Start_Site|ZC3H13_uc001vas.1_Nonsense_Mutation_p.R1343*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1343	Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		tctcgttctcgttctcgcaat	0.03													A	46541933	G	A	46541933	4	1	166	1	0	0	0	0	0	1	0	0	17562	1153	40	1	679	1	ZC3H13	13	46541933	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4600356	46541933	68627945	905	91447											
CCDC70	83446	broad.mit.edu	37	chr13	52439918	52439918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaggaggataaggcctTctggaaagaggacaatgcct	14	7	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:52439918T>G	uc001vfu.3	+	2	700	c.404T>G	c.(403-405)TTC>TGC	p.F135C	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	135						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GATAAGGCCTTCTGGAAAGAG	0.473													G	52439918	T	G	52439918	3	3	166	1	0	0	0	0	1	0	0	0	2843	1783	62	5	406	5	CCDC70	13	52439918	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	5897985	52439918	62729960	906	91448											
UTP14C	9724	broad.mit.edu	37	chr13	52603136	52603136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattggctgagaggtctgagGctagtctgaaagtgtcagag	15	5	3	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:52603136G>T	uc001vgb.2	+	2	731	c.196G>T	c.(196-198)GCT>TCT	p.A66S	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	66					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		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)		GAGGTCTGAGGCTAGTCTGAA	0.463													T	52603136	G	T	52603136	3	4	166	1	0	0	0	0	1	0	0	0	17093	1203	42	5	198	5	UTP14C	13	52603136	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	163218	52603136	62566742	907	91449											
RBM26	64062	broad.mit.edu	37	chr13	79940836	79940837	+	Frame_Shift_Ins	INS	-	-	G													gggcctgagattcacaggtgINSggggtgtaagaattggtgga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:79940835_79940836T>TG	uc001vkz.2	-	6	1081_1082	c.1067_1068A>CA	c.(1066-1068)ccafs	p.P356fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.P356fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.P356fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.P68fs|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	356	Pro-rich.				mRNA processing		RNA binding|nucleotide binding|protein 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)		GATTCACAGGTGGGGGTGTAAG	0.54													G	79940837	-	G	79940836	7	5	166	1	0	1	1	0	0	0	0	0	13126	1348	47	0	1935	0	RBM26	13	79940836	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	27337700	79940836	35229042	908	91450											
SLITRK1	114798	broad.mit.edu	37	chr13	84455202	84455202	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagtcctggaaggccccCgggtctatatctcgtaataa	9	11	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:84455202C>G	uc001vlk.2	-	1	1327	c.441G>C	c.(439-441)CCG>CCC	p.P147P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	147	LRR 4.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGAAGGCCCCCGGGTCTATAT	0.463													G	84455202	C	G	84455202	2	3	166	1	0	0	0	0	0	0	0	1	14742	639	23	5		5	SLITRK1	13	84455202	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4514366	84455202	30714676	909	91451											
ABCC4	10257	broad.mit.edu	37	chr13	95735449	95735449	+	Frame_Shift_Del	DEL	A	A	-													tccaaaaaatatcgccgaagAaaaatgaaaatgattccaag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:95735448_95735448GA>G	uc001vmd.4	-	20	2751	c.2632_2632TC>C	c.(2632-2634)cttfs	p.L878fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L831fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	878	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)	TATCGCCGAAGAAAAATGAAA	0.458													-	95735449	A	-	95735449	7	5	166	1	0	1	0	1	0	0	0	0	55	243	9	0	1390	0	ABCC4	13	95735449	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	11280247	95735449	19434429	910	91452											
UGGT2	55757	broad.mit.edu	37	chr13	96536762	96536762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatcctttaagtgaatatTatcaaggtcacagttgctgt	7	7	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:96536762T>C	uc001vmt.2	-	27	3381	c.3211A>G	c.(3211-3213)AAT>GAT	p.N1071D	UGGT2_uc001vmu.1_Missense_Mutation_p.N158D	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1071					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AAGTGAATATTATCAAGGTCA	0.353													C	96536762	T	C	96536762	3	2	166	1	0	0	0	0	1	0	0	0	16939	1754	61	3	1391	3	UGGT2	13	96536762	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	801313	96536762	18633116	911	91453											
NALCN	259232	broad.mit.edu	37	chr13	101720335	101720335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcattgtaacttaaaaGctggtcctcctcagtggaat	8	8	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:101720335G>A	uc001vox.1	-	39	4570	c.4381C>T	c.(4381-4383)CTT>TTT	p.L1461F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1461	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAACTTAAAAGCTGGTCCTCC	0.368													A	101720335	G	A	101720335	3	1	166	1	0	0	0	0	1	0	0	0	10148	971	34	2	859	2	NALCN	13	101720335	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5183573	101720335	13449543	912	91454											
COL4A2	1284	broad.mit.edu	37	chr13	111077160	111077160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgggactgcagggacgtaAaggagacaagggtgaaaggg	18	7	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:111077160A>G	uc001vqx.2	+	5	549	c.260A>G	c.(259-261)AAA>AGA	p.K87R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	87					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			CAGGGACGTAAAGGAGACAAG	0.632													G	111077160	A	G	111077160	3	3	166	1	0	0	0	0	1	0	0	0	3690	14	1	3	274	3	COL4A2	13	111077160	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	9356825	111077160	4092718	913	91455											
PCID2	55795	broad.mit.edu	37	chr13	113834514	113834514	+	Frame_Shift_Del	DEL	T	T	-													caaactgcatcaggtgatacTttttcaggagctccacagtg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:113834513_113834513CT>C	uc021rmt.1	-	10	1062	c.981_981AG>G	c.(979-981)aagfs	p.K327fs	PCID2_uc001vtb.2_Frame_Shift_Del_p.K106fs|PCID2_uc021rmq.1_Frame_Shift_Del_p.K273fs|PCID2_uc021rmr.1_Frame_Shift_Del_p.K273fs|PCID2_uc021rms.1_Frame_Shift_Del_p.K273fs	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	273	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TCAGGTGATACTTTTTCAGGA	0.403													-	113834514	T	-	113834514	7	5	166	1	0	1	0	1	0	0	0	0	11579	1609	56	0	397	0	PCID2	13	113834514	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2757354	113834514	1335364	914	91456											
GAS6	2621	broad.mit.edu	37	chr13	114535710	114535710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggccacgctgaagggcaCgcacggcaagatgtcctgcc	13	14	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:114535710C>T	uc001vud.2	-	9	1003	c.850G>A	c.(850-852)GTG>ATG	p.V284M	GAS6_uc001vug.2_Translation_Start_Site|GAS6_uc001vuf.2_Missense_Mutation_p.V11M	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	327					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)	4	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)				CTGAAGGGCACGCACGGCAAG	0.687													T	114535710	C	T	114535710	3	4	166	1	0	0	0	0	1	0	0	0	6249	536	19	1	1214	1	GAS6	13	114535710	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	701196	114535710	634168	915	91457											
OR4Q3	441669	broad.mit.edu	37	chr14	20216082	20216082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtcatactagtcatcCagctgcctttctgtgggccc	10	13	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:20216082C>A	uc010tkt.1	+	1	496	c.496C>A	c.(496-498)CAG>AAG	p.Q166K		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTAGTCATCCAGCTGCCTTT	0.507													A	20216082	C	A	20216082	3	1	166	1	0	0	0	0	1	0	0	0	11081	595	21	5	498	5	OR4Q3	14	20216082	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08		20216082	87133458	916	91458											
TEP1	7011	broad.mit.edu	37	chr14	20846338	20846338	+	Frame_Shift_Del	DEL	C	C	-													cagccggcccacagccacaaCccccccaggcacattgaagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:20846337_20846337AC>A	uc001vxe.3	-	38	5607	c.5567_5567GT>T	c.(5566-5568)gttfs	p.V1856fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.V1199fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.V1748fs|TEP1_uc010tlh.1_Frame_Shift_Del_p.V194fs	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1856					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)		CACAGCCACAACCCCCCCAGG	0.627													-	20846338	C	-	20846338	7	5	166	1	0	1	0	1	0	0	0	0	15756	507	18	0	2385	0	TEP1	14	20846338	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	630256	20846338	86503202	917	91459											
C14orf93	60686	broad.mit.edu	37	chr14	23467754	23467754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggctgctcccagctgcCgcagctcctcaatcaccacc	8	19	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:23467754C>T	uc001wib.1	-	2	789	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	C14orf93_uc001wic.1_5'UTR|C14orf93_uc001wid.1_Missense_Mutation_p.R160Q|C14orf93_uc001wig.2_Missense_Mutation_p.R160Q|C14orf93_uc001wih.2_Missense_Mutation_p.R160Q|C14orf93_uc001wie.2_Missense_Mutation_p.R160Q|C14orf93_uc001wia.3_Missense_Mutation_p.R160Q|C14orf93_uc001wif.2_5'UTR	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	160						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCCCAGCTGCCGCAGCTCCTC	0.657													T	23467754	C	T	23467754	3	4	166	1	0	0	0	0	1	0	0	0	1782	652	23	1	1161	1	C14orf93	14	23467754	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2621416	23467754	83881786	918	91460											
HOMEZ	57594	broad.mit.edu	37	chr14	23745515	23745515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggacacagcctagtgGctggaggggtttagaggcgg	19	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:23745515G>A	uc001wja.2	-	2	1070	c.922C>T	c.(922-924)CCA>TCA	p.P308S	HOMEZ_uc001wjb.2_Missense_Mutation_p.P310S	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCTAGTGGCTGGAGGGGT	0.552													A	23745515	G	A	23745515	3	1	166	1	0	0	0	0	1	0	0	0	7281	1203	42	2	734	2	HOMEZ	14	23745515	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	277761	23745515	83604025	919	91461											
MYH7	4625	broad.mit.edu	37	chr14	23898213	23898213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcctatgaagtactggCgtggctgcttggtctccagg	14	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:23898213C>T	uc001wjx.2	-	14	1464	c.1358G>A	c.(1357-1359)CGC>CAC	p.R453H		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	453	Myosin head-like.		R -> C (in CMH1).|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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAAGTACTGGCGTGGCTGCTT	0.552													T	23898213	C	T	23898213	3	4	166	1	0	0	0	0	1	0	0	0	10039	768	27	1	4557	1	MYH7	14	23898213	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	152698	23898213	83451327	920	91462											
AP1G2	8906	broad.mit.edu	37	chr14	24036397	24036397	+	Frame_Shift_Del	DEL	C	C	-													ccggtgcctgtgcactgggtCcccgtcgcggaaggaggccc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:24036396_24036396TC>T	uc001wkl.2	-	1	465	c.128_128GA>A	c.(127-129)gacfs	p.D43fs	AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Frame_Shift_Del_p.D43fs|AP1G2_uc010aks.3_5'UTR|AP1G2_uc010akt.3_5'UTR|AP1G2_uc010tnq.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	43					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)		GTGCACTGGGTCCCCGTCGCG	0.632											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	24036397	C	-	24036397	7	5	166	1	0	1	0	1	0	0	0	0	733	855	30	0	2314	0	AP1G2	14	24036397	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	138184	24036397	83313143	921	91463											
LRRC16B	90668	broad.mit.edu	37	chr14	24523631	24523631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggagacggagcgtggcatGgtgagcatgcgactgccatc	17	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:24523631G>T	uc001wlj.2	+	5	430	c.273G>T	c.(271-273)ATG>ATT	p.M91I		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	91										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		AGCGTGGCATGGTGAGCATGC	0.627													T	24523631	G	T	24523631	3	4	166	1	0	0	0	0	1	0	0	0	8972	1348	47	5	291	5	LRRC16B	14	24523631	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	487234	24523631	82825909	922	91464											
NYNRIN	57523	broad.mit.edu	37	chr14	24877215	24877215	+	Frame_Shift_Del	DEL	C	C	-													cttgcctacctggtgcctggCccccctggctccctgatggt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:24877214_24877214GC>G	uc001wpf.4	+	2	656	c.338_338GC>G	c.(337-339)ggcfs	p.G113fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	113					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						CTGGTGCCTGGCCCCCCTGGC	0.657													-	24877215	C	-	24877215	7	5	166	1	0	1	0	1	0	0	0	0	10796	726	26	0	345	0	NYNRIN	14	24877215	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	353584	24877215	82472325	923	91465											
NOVA1	4857	broad.mit.edu	37	chr14	26917185	26917185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacccactttctgaggatTggcagcccgaactccttgct	8	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:26917185T>C	uc001wpy.2	-	5	1822	c.1504A>G	c.(1504-1506)AAT>GAT	p.N502D	NOVA1_uc001wpz.2_Missense_Mutation_p.N478D|NOVA1_uc001wqa.2_Missense_Mutation_p.N380D	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	505					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		TTCTGAGGATTGGCAGCCCGA	0.443													C	26917185	T	C	26917185	3	2	166	1	0	0	0	0	1	0	0	0	10554	1812	63	3	23	3	NOVA1	14	26917185	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2039970	26917185	80432355	924	91466											
MIPOL1	145282	broad.mit.edu	37	chr14	37838737	37838737	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgcaaacggttagagCaggagcttcatcatgtgaaa	13	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:37838737C>T	uc001wuc.2	+	11	1347	c.844C>T	c.(844-846)CAG>TAG	p.Q282*	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Nonsense_Mutation_p.Q251*|MIPOL1_uc001wud.2_Nonsense_Mutation_p.Q282*|MIPOL1_uc010ams.2_Nonsense_Mutation_p.Q282*|MIPOL1_uc001wue.2_Nonsense_Mutation_p.Q251*|MIPOL1_uc010amt.2_Nonsense_Mutation_p.Q101*	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	282	Potential.									ovary(1)|central_nervous_system(1)	2	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)		ACGGTTAGAGCAGGAGCTTCA	0.393													T	37838737	C	T	37838737	4	4	166	1	0	0	0	0	0	1	0	0	9593	711	25	2	874	2	MIPOL1	14	37838737	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	10921552	37838737	69510803	925	91467											
L2HGDH	79944	broad.mit.edu	37	chr14	50734531	50734531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagggtctgtaaccctctCgtttaaaggcaagaactgca	9	10	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:50734531C>T	uc001wxu.2	-	8	1083	c.1004G>A	c.(1003-1005)CGA>CAA	p.R335Q	L2HGDH_uc010tqn.1_Missense_Mutation_p.R335Q|L2HGDH_uc010tqo.1_Missense_Mutation_p.R335Q	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	335					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTAACCCTCTCGTTTAAAGGC	0.388													T	50734531	C	T	50734531	3	4	166	1	0	0	0	0	1	0	0	0	8590	884	31	1	399	1	L2HGDH	14	50734531	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	12895794	50734531	56615009	926	91468											
ARID4A	5926	broad.mit.edu	37	chr14	58817949	58817949	+	Frame_Shift_Del	DEL	A	A	-													aatgagctactactggggagAaaaaatacaccaaagcaaaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:58817948_58817948GA>G	uc001xdp.3	+	15	1816	c.1562_1562GA>G	c.(1561-1563)agafs	p.R521fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.R521fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.R521fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.R199fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	521					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						CTACTGGGGAGAAAAAATACA	0.328													-	58817949	A	-	58817949	7	5	166	1	0	1	0	1	0	0	0	0	919	243	9	0	1621	0	ARID4A	14	58817949	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	8083418	58817949	48531591	927	91469											
C14orf149	112849	broad.mit.edu	37	chr14	59946072	59946072	+	Splice_Site	DEL	A	A	-													gaacatccaccatgagatctAaaaaaaagatgtgtttggaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333													-	59946072	A	-	59946072	8	5	166	1	0	1	0	1	0	0	1	0	1752	377	13	0		0	C14orf149	14	59946072	Splice_Site	DEL	A	TCGA-CG-4306-01A-01D-1158-08	1128123	59946072	47403468	928	91470											
SYNE2	23224	broad.mit.edu	37	chr14	64586330	64586330	+	Splice_Site	DEL	A	A	-													aagcacagtgaagatcaggtAaaaaatgactatctatggac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:64586329_64586329TA>T	uc001xgl.3	+	67	13253	c.13023_splice	c.e67+2	p.Q4341_splice	SYNE2_uc001xgm.3_Splice_Site_p.Q4341_splice|SYNE2_uc021ruh.1_Splice_Site_p.Q4356_splice|SYNE2_uc010apy.3_Splice_Site_p.Q726_splice|SYNE2_uc010apz.1_Splice_Site_p.Q233_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		GAAGATCAGGTAAAAAATGAC	0.423													-	64586330	A	-	64586330	8	5	166	1	0	1	0	1	0	0	1	0	15443	377	13	0		0	SYNE2	14	64586330	Splice_Site	DEL	A	TCGA-CG-4306-01A-01D-1158-08	4640258	64586330	42763210	929	91471											
SYNE2	23224	broad.mit.edu	37	chr14	64653220	64653220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggacttaacccggcacGttctcgtggaagatgtgatg	14	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:64653220G>A	uc001xgm.2	+	97	17865	c.17635G>A	c.(17635-17637)GTT>ATT	p.V5879I	SYNE2_uc001xgl.2_Missense_Mutation_p.V5879I|SYNE2_uc010apy.2_Missense_Mutation_p.V2264I|SYNE2_uc001xgn.2_Missense_Mutation_p.V841I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.V244I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5879	Spectrin 4.|Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACCCGGCACGTTCTCGTGGA	0.468													A	64653220	G	A	64653220	3	1	166	1	0	0	0	0	1	0	0	0	15443	1145	40	1	18017	1	SYNE2	14	64653220	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	66890	64653220	42696320	930	91472											
PLEK2	26499	broad.mit.edu	37	chr14	67862233	67862233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaaggcccaggcatccCgctcctctcgagaacaggcc	9	17	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:67862233C>T	uc001xjh.1	-	3	327	c.275G>A	c.(274-276)CGG>CAG	p.R92Q		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	92	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		CCAGGCATCCCGCTCCTCTCG	0.592													T	67862233	C	T	67862233	3	4	166	1	0	0	0	0	1	0	0	0	12054	652	23	1	814	1	PLEK2	14	67862233	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3209013	67862233	39487307	931	91473											
SIPA1L1	26037	broad.mit.edu	37	chr14	72056033	72056033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagagtgaaaagatacatcGtggaacacgtagatctgggt	12	5	1	4	rs148152996		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:72056033G>A	uc001xms.2	+	2	1792	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	SIPA1L1_uc001xmt.2_Missense_Mutation_p.V482M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.V482M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.V482M	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	482					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAGATACATCGTGGAACACGT	0.398													A	72056033	G	A	72056033	3	1	166	1	0	0	0	0	1	0	0	0	14329	1145	40	1	1446	1	SIPA1L1	14	72056033	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4193800	72056033	35293507	932	91474											
LTBP2	4053	broad.mit.edu	37	chr14	75078312	75078312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtggctggacacgccgCgactgctgcgcgcgggacgg	19	13	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:75078312C>T	uc001xqa.2	-	1	723	c.336G>A	c.(334-336)TCG>TCA	p.S112S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	112					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGACACGCCGCGACTGCTGCG	0.781													T	75078312	C	T	75078312	2	4	166	1	0	0	0	0	0	0	0	1	9074	755	27	1		1	LTBP2	14	75078312	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3022279	75078312	32271228	933	91475											
TTLL5	23093	broad.mit.edu	37	chr14	76219283	76219283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactatatgctggcaacacGcctcttccaggacaggtaga	10	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:76219283G>A	uc001xrx.2	+	18	1740	c.1535G>A	c.(1534-1536)CGC>CAC	p.R512H	TTLL5_uc010ask.1_Missense_Mutation_p.R526H|TTLL5_uc001xrz.2_Missense_Mutation_p.R74H|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	512					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGGCAACACGCCTCTTCCAG	0.373													A	76219283	G	A	76219283	3	1	166	1	0	0	0	0	1	0	0	0	16727	1087	38	1	1601	1	TTLL5	14	76219283	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1140971	76219283	31130257	934	91476											
C14orf145	145508	broad.mit.edu	37	chr14	80993231	80993231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgaaacttttggttctGtacttggtgtcatcttggtg	10	6	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:80993231G>A	uc001xux.2	-	22	3225	c.3054C>T	c.(3052-3054)TAC>TAT	p.Y1018Y	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	1018						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TTTTGGTTCTGTACTTGGTGT	0.378													A	80993231	G	A	80993231	2	1	166	1	0	0	0	0	0	0	0	1	1749	1372	48	4		4	C14orf145	14	80993231	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4773948	80993231	26356309	935	91477											
STON2	85439	broad.mit.edu	37	chr14	81743374	81743374	+	Frame_Shift_Del	DEL	C	C	-													actagtggagccaaaacttgCcccccggttcactttggctt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:81743373_81743373GC>G	uc010tvu.2	-	3	2480	c.2282_2282GC>C	c.(2281-2283)gcafs	p.A761fs	STON2_uc001xvk.1_Frame_Shift_Del_p.A761fs|STON2_uc010tvt.2_Frame_Shift_Del_p.A558fs	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	761	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)		GCCAAAACTTGCCCCCCGGTT	0.522													-	81743374	C	-	81743374	7	5	166	1	0	1	0	1	0	0	0	0	15317	739	26	0	442	0	STON2	14	81743374	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	750143	81743374	25606166	936	91478											
FLRT2	23768	broad.mit.edu	37	chr14	86089507	86089507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcttgatcgggggcgCggtgatatttgtgctggtgg	21	6	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:86089507C>T	uc001xvr.2	+	2	2416	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	FLRT2_uc010atd.2_Missense_Mutation_p.A550V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550	Helical; (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCGGGGGCGCGGTGATATTT	0.587													T	86089507	C	T	86089507	3	4	166	1	0	0	0	0	1	0	0	0	5939	768	27	1	1651	1	FLRT2	14	86089507	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4346133	86089507	21260033	937	91479											
TTC7B	145567	broad.mit.edu	37	chr14	91142956	91142956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgcagactgatgaggcGgtcactcttgtgttcaggta	12	9	4	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:91142956G>A	uc001xyp.2	-	9	1185	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	355							binding			ovary(2)	2		Melanoma(154;0.222)				CTGATGAGGCGGTCACTCTTG	0.502													A	91142956	G	A	91142956	3	1	166	1	0	0	0	0	1	0	0	0	16710	1116	39	1	1516	1	TTC7B	14	91142956	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5053449	91142956	16206584	938	91480											
SLC24A4	123041	broad.mit.edu	37	chr14	92920308	92920308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagattatgagctccagCcctcccaagttcaccttccc	7	16	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:92920308C>T	uc001yak.2	+	11	918	c.894C>T	c.(892-894)AGC>AGT	p.S298S	SLC24A4_uc001yai.2_Silent_p.S251S|SLC24A4_uc010twm.1_Silent_p.S296S|SLC24A4_uc001yaj.2_Silent_p.S279S|SLC24A4_uc010auj.2_Silent_p.S187S|SLC24A4_uc010twn.1_Silent_p.S71S|SLC24A4_uc001yan.2_Silent_p.S9S	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	315	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		TGAGCTCCAGCCCTCCCAAGT	0.517													T	92920308	C	T	92920308	2	4	166	1	0	0	0	0	0	0	0	1	14468	738	26	2		2	SLC24A4	14	92920308	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1777352	92920308	14429232	939	91481											
KIAA1409	57578	broad.mit.edu	37	chr14	94173133	94173133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaggacgctgccgggctcGggccagagcagtgctggcct	16	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:94173133G>A	uc001ybv.1	+	48	7409	c.7326G>A	c.(7324-7326)TCG>TCA	p.S2442S	KIAA1409_uc001ybs.1_Silent_p.S2420S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2597						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGCCGGGCTCGGGCCAGAGCA	0.597													A	94173133	G	A	94173133	2	1	166	1	0	0	0	0	0	0	0	1	8230	1103	39	1		1	KIAA1409	14	94173133	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1252825	94173133	13176407	940	91482											
EML1	2009	broad.mit.edu	37	chr14	100405583	100405583	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatcaatgccgtctgtcgGgcccatgagaagaaactcct	10	12	2	2	rs61986043		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:100405583G>T	uc001ygs.2	+	21	2310	c.2241G>T	c.(2239-2241)CGG>CGT	p.R747R	EML1_uc010tww.1_Silent_p.R735R|EML1_uc001ygr.2_Silent_p.R766R	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	747	WD 10.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTCTGTCGGGCCCATGAGA	0.552													T	100405583	G	T	100405583	2	4	166	1	0	0	0	0	0	0	0	1	5096	1219	43	5		5	EML1	14	100405583	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6232450	100405583	6943957	941	91483											
CDC42BPB	9578	broad.mit.edu	37	chr14	103435030	103435030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctctaaggtggcaccCgctccccggcctccttgctt	11	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:103435030C>T	uc001ymi.1	-	15	2251	c.2019G>A	c.(2017-2019)GCG>GCA	p.A673A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	673	Potential.				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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGGTGGCACCCGCTCCCCGGC	0.473													T	103435030	C	T	103435030	2	4	166	1	0	0	0	0	0	0	0	1	3073	639	23	1		1	CDC42BPB	14	103435030	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3029447	103435030	3914510	942	91484											
JAG2	3714	broad.mit.edu	37	chr14	105634420	105634420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgcgctcagctgcagctCgaaatagcccatgggccgcg	13	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:105634420C>T	uc001yqg.2	-	2	495	c.91G>A	c.(91-93)GAG>AAG	p.E31K	JAG2_uc001yqh.2_Missense_Mutation_p.E31K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	31	Extracellular (Potential).				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			lung(3)|breast(2)	5		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)		AGCTGCAGCTCGAAATAGCCC	0.547													T	105634420	C	T	105634420	3	4	166	1	0	0	0	0	1	0	0	0	7935	893	31	1	3725	1	JAG2	14	105634420	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2199390	105634420	1715120	943	91485											
ATP10A	57194	broad.mit.edu	37	chr15	25959016	25959016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacttggtcgtgcagccGctccacaagcacgcagttgt	11	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:25959016G>A	uc010ayu.2	-	10	2255	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	717	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		TCGTGCAGCCGCTCCACAAGC	0.642													A	25959016	G	A	25959016	3	1	166	1	0	0	0	0	1	0	0	0	1116	1086	38	1	2398	1	ATP10A	15	25959016	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08		25959016	76572376	944	91486											
OCA2	4948	broad.mit.edu	37	chr15	28230313	28230313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatcatggcccacacccGtccccgggagagccggtatg	13	14	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:28230313G>A	uc001zbh.3	-	13	1371	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	OCA2_uc010ayv.2_Missense_Mutation_p.R397W	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	421	Cytoplasmic (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		GCCCACACCCGTCCCCGGGAG	0.572									Oculocutaneous_Albinism				A	28230313	G	A	28230313	3	1	166	1	0	0	0	0	1	0	0	0	10815	1144	40	1	1303	1	OCA2	15	28230313	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2271297	28230313	74301079	945	91487											
HERC2	8924	broad.mit.edu	37	chr15	28482137	28482137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatctcgacaggagacagCggtgtgctcattgccaaata	10	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:28482137C>T	uc001zbj.2	-	26	4081	c.3975G>A	c.(3973-3975)CCG>CCA	p.P1325P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1325					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CAGGAGACAGCGGTGTGCTCA	0.448													T	28482137	C	T	28482137	2	4	166	1	0	0	0	0	0	0	0	1	7058	755	27	1		1	HERC2	15	28482137	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	251824	28482137	74049255	946	91488											
TJP1	7082	broad.mit.edu	37	chr15	30092850	30092850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgcaacacaaacttaccCtgtgaagcgtcactgtatgt	7	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:30092850C>A	uc001zcr.2	-	2	558	c.83G>T	c.(82-84)AGG>ATG	p.R28M	TJP1_uc010azl.2_Missense_Mutation_p.R16M|TJP1_uc001zcq.2_Missense_Mutation_p.R32M|TJP1_uc001zcs.2_Missense_Mutation_p.R28M	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	28	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		CAAACTTACCCTGTGAAGCGT	0.398													A	30092850	C	A	30092850	3	1	166	1	0	0	0	0	1	0	0	0	15926	695	24	5	5271	5	TJP1	15	30092850	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1610713	30092850	72438542	947	91489											
RYR3	6263	broad.mit.edu	37	chr15	34040421	34040421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctttggttcaacagcGggaaaatgagaagcttcgaa	12	6	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:34040421G>A	uc001zhi.2	+	54	8166	c.8096G>A	c.(8095-8097)CGG>CAG	p.R2699Q	RYR3_uc010bar.2_Missense_Mutation_p.R2699Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2699	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GTTCAACAGCGGGAAAATGAG	0.562													A	34040421	G	A	34040421	3	1	166	1	0	0	0	0	1	0	0	0	13770	1116	39	1	8310	1	RYR3	15	34040421	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3947571	34040421	68490971	948	91490											
C15orf55	256646	broad.mit.edu	37	chr15	34642991	34642991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaggagtgggagcacaCcagcaactttgaccggatga	14	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:34642991C>T	uc001zif.2	+	3	967	c.812C>T	c.(811-813)ACC>ATC	p.T271I	C15orf55_uc010ucc.1_Missense_Mutation_p.T299I|C15orf55_uc010ucd.1_Missense_Mutation_p.T289I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	271						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TGGGAGCACACCAGCAACTTT	0.552			T	BRD3|BRD4	lethal midline carcinoma								T	34642991	C	T	34642991	3	4	166	1	0	0	0	0	1	0	0	0	1803	507	18	4	822	4	C15orf55	15	34642991	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	602570	34642991	67888401	949	91491											
VPS18	57617	broad.mit.edu	37	chr15	41191772	41191772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctttgcagcttacacGgaccacccacccccattccg	8	18	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:41191772G>A	uc001zne.2	+	4	1095	c.756G>A	c.(754-756)ACG>ACA	p.T252T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	252					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		CAGCTTACACGGACCACCCAC	0.622													A	41191772	G	A	41191772	2	1	166	1	0	0	0	0	0	0	0	1	17191	1103	39	1		1	VPS18	15	41191772	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6548781	41191772	61339620	950	91492											
INO80	54617	broad.mit.edu	37	chr15	41277580	41277580	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttgcgctctttcactcGgttggtttcctcctgttgcc	9	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:41277580G>A	uc001zni.2	-	32	4090	c.3877C>T	c.(3877-3879)CGA>TGA	p.R1293*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1293	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			ovary(2)|pancreas(1)|skin(1)	4						TCTTTCACTCGGTTGGTTTCC	0.488													A	41277580	G	A	41277580	4	1	166	1	0	0	0	0	0	1	0	0	7746	1124	39	1	813	1	INO80	15	41277580	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	85808	41277580	61253812	951	91493											
MAPKBP1	23005	broad.mit.edu	37	chr15	42105142	42105142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgtgcccttgctggGccgctcagggctgctgggag	16	13	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:42105142G>A	uc001zok.3	+	8	948	c.662G>A	c.(661-663)GGC>GAC	p.G221D	MAPKBP1_uc001zoj.3_Missense_Mutation_p.G221D|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.G221D|MAPKBP1_uc010udb.1_Missense_Mutation_p.G109D|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	221										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		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)		CCCTTGCTGGGCCGCTCAGGG	0.592													A	42105142	G	A	42105142	3	1	166	1	0	0	0	0	1	0	0	0	9292	1203	42	2	688	2	MAPKBP1	15	42105142	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	827562	42105142	60426250	952	91494											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42134087	42134087	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcctctgtgggcacTggcaccttccgcttccactg	12	15	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:42134087T>A	uc010bco.2	+	8	662	c.561T>A	c.(559-561)ACT>ACA	p.T187T	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.T418T|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.T418T|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	187					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			large_intestine(1)	1						CTGTGGGCACTGGCACCTTCC	0.632													A	42134087	T	A	42134087	2	1	166	1	0	0	0	0	0	0	0	1	7955	1567	55	5		5	JMJD7-PLA2G4B	15	42134087	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	28945	42134087	60397305	953	91495											
CDAN1	146059	broad.mit.edu	37	chr15	43028259	43028259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccggagttgggttgatcCtgcgagaaggcttcgtcctg	14	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:43028259C>A	uc001zql.2	-	3	704	c.587G>T	c.(586-588)AGG>ATG	p.R196M	CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	196						integral to membrane	protein binding			ovary(2)	2		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)		TGGGTTGATCCTGCGAGAAGG	0.552													A	43028259	C	A	43028259	3	1	166	1	0	0	0	0	1	0	0	0	3054	681	24	5	3200	5	CDAN1	15	43028259	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	894172	43028259	59503133	954	91496											
TUBGCP4	27229	broad.mit.edu	37	chr15	43675579	43675579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactcctcttggaccagcaTgaagaattctttatcaaaca	7	10	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:43675579T>C	uc001zro.2	+	7	840	c.600T>C	c.(598-600)CAT>CAC	p.H200H	TUBGCP4_uc001zrn.2_Silent_p.H200H|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	200					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			ovary(3)	3		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)		TGGACCAGCATGAAGAATTCT	0.507													C	43675579	T	C	43675579	2	2	166	1	0	0	0	0	0	0	0	1	16765	1461	51	3		3	TUBGCP4	15	43675579	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	647320	43675579	58855813	955	91497											
MAP1A	4130	broad.mit.edu	37	chr15	43815140	43815140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaaaatagacaggagccGtgctatccgtggggagaagg	15	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:43815140G>A	uc001zrt.2	+	4	1936	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	490	Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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													A	43815140	G	A	43815140	3	1	166	1	0	0	0	0	1	0	0	0	9227	1145	40	1	1471	1	MAP1A	15	43815140	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	139561	43815140	58716252	956	91498											
DUOXA2	405753	broad.mit.edu	37	chr15	45409435	45409435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctagcgtgccgctctgccCgctccgcctaggctcctccg	10	20	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:45409435C>T	uc001zuo.2	+	5	981	c.701C>T	c.(700-702)CCG>CTG	p.P234L	DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	234	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		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)		CCGCTCTGCCCGCTCCGCCTA	0.701													T	45409435	C	T	45409435	3	4	166	1	0	0	0	0	1	0	0	0	4803	652	23	1	719	1	DUOXA2	15	45409435	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1594295	45409435	57121957	957	91499											
GATM	2628	broad.mit.edu	37	chr15	45660384	45660384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcaaagaagcgtgaacGccatgccatgggagcctcga	12	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:45660384G>A	uc001zvc.2	-	4	888	c.559C>T	c.(559-561)CGT>TGT	p.R187C	GATM_uc001zvb.2_Missense_Mutation_p.R58C|GATM_uc010uev.1_Missense_Mutation_p.R240C	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	187					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		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)	AAGCGTGAACGCCATGCCATG	0.488													A	45660384	G	A	45660384	3	1	166	1	0	0	0	0	1	0	0	0	6263	1087	38	1	736	1	GATM	15	45660384	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	250949	45660384	56871008	958	91500											
SEMA6D	80031	broad.mit.edu	37	chr15	48052032	48052032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgcctacatactgctgCtgatggtttcccagttgagg	11	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:48052032C>T	uc010bek.2	+	2	397	c.37C>T	c.(37-39)CTG>TTG	p.L13L	SEMA6D_uc001zvw.2_Silent_p.L13L|SEMA6D_uc001zvx.1_Silent_p.L13L|SEMA6D_uc001zvy.2_Silent_p.L13L|SEMA6D_uc001zvz.2_Silent_p.L13L|SEMA6D_uc001zwa.2_Silent_p.L13L|SEMA6D_uc001zwb.2_Silent_p.L13L|SEMA6D_uc001zwc.2_Silent_p.L13L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	13					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		CATACTGCTGCTGATGGTTTC	0.498													T	48052032	C	T	48052032	2	4	166	1	0	0	0	0	0	0	0	1	14042	796	28	2		2	SEMA6D	15	48052032	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2391648	48052032	54479360	959	91501											
FBN1	2200	broad.mit.edu	37	chr15	48782150	48782150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttctcatgggacactcctCgcattcctcagtaccccagg	7	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:48782150C>T	uc001zwx.1	-	25	3308	c.2980G>A	c.(2980-2982)GAG>AAG	p.E994K		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	994	TB 5.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGACACTCCTCGCATTCCTCA	0.567													T	48782150	C	T	48782150	3	4	166	1	0	0	0	0	1	0	0	0	5702	893	31	1	5803	1	FBN1	15	48782150	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	730118	48782150	53749242	960	91502											
C15orf33	196951	broad.mit.edu	37	chr15	49907322	49907322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggaagcttccttaccccgGggccagctctgctgctcctc	11	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:49907322G>T	uc001zxl.2	-	2	341	c.47C>A	c.(46-48)CCC>CAC	p.P16H	C15orf33_uc001zxm.2_Missense_Mutation_p.P16H	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	16										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		CCTTACCCCGGGGCCAGCTCT	0.463													T	49907322	G	T	49907322	3	4	166	1	0	0	0	0	1	0	0	0	1791	1232	43	5	1539	5	C15orf33	15	49907322	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1125172	49907322	52624070	961	91503											
SLC27A2	11001	broad.mit.edu	37	chr15	50474821	50474821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagaaagcgcgccagaCgccacacaagccttttctgc	10	15	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:50474821C>T	uc001zxw.2	+	1	429	c.197C>T	c.(196-198)ACG>ATG	p.T66M	SLC27A2_uc010bes.2_Missense_Mutation_p.T66M	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	66	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GCGCGCCAGACGCCACACAAG	0.687													T	50474821	C	T	50474821	3	4	166	1	0	0	0	0	1	0	0	0	14526	536	19	1	199	1	SLC27A2	15	50474821	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	567499	50474821	52056571	962	91504											
GABPB1	2553	broad.mit.edu	37	chr15	50570857	50570857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctttattagtctgaagaCgagtcatagcttccaacttc	6	10	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:50570857C>T	uc001zyb.2	-	9	1584	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H	GABPB1_uc001zya.2_Missense_Mutation_p.R375H|GABPB1_uc010ufg.1_Missense_Mutation_p.R311H	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	387					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1						AGTCTGAAGACGAGTCATAGC	0.373													T	50570857	C	T	50570857	3	4	166	1	0	0	0	0	1	0	0	0	6158	536	19	1	31	1	GABPB1	15	50570857	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	96036	50570857	51960535	963	91505											
SCG3	29106	broad.mit.edu	37	chr15	52011689	52011689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccttgacaaggaagaagCcgaggccatcaagcgcattt	10	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:52011689C>T	uc002abh.2	+	12	1781	c.1373C>T	c.(1372-1374)GCC>GTC	p.A458V	SCG3_uc010ufz.1_Missense_Mutation_p.A226V	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	458					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		AAGGAAGAAGCCGAGGCCATC	0.368													T	52011689	C	T	52011689	3	4	166	1	0	0	0	0	1	0	0	0	13892	739	26	2	1419	2	SCG3	15	52011689	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1440832	52011689	50519703	964	91506											
PRTG	283659	broad.mit.edu	37	chr15	55971645	55971645	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaaatgaaggaggagcTatttttaaagaaaaaaatga	8	3	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:55971645T>C	uc002adg.2	-	7	1022	c.974_splice	c.e7-1	p.A325_splice		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor						multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AAGGAGGAGCTATTTTTAAAG	0.413													C	55971645	T	C	55971645	5	2	166	1	0	0	0	0	0	0	1	0	12638	1536	53	3	2536	3	PRTG	15	55971645	Splice_Site	SNP	T	TCGA-CG-4306-01A-01D-1158-08	3959956	55971645	46559747	965	91507											
RFX7	64864	broad.mit.edu	37	chr15	56386864	56386864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaatgcaaacggattcCtgcattcaacagggctgggg	14	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:56386864C>A	uc010bfn.2	-	9	3062	c.3062G>T	c.(3061-3063)AGG>ATG	p.R1021M	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.R835M	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	924					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						AAACGGATTCCTGCATTCAAC	0.498													A	56386864	C	A	56386864	3	1	166	1	0	0	0	0	1	0	0	0	13268	681	24	5	1324	5	RFX7	15	56386864	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	415219	56386864	46144528	966	91508											
FAM63B	54629	broad.mit.edu	37	chr15	59080107	59080107	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatattttgtttttcaggtGaaacttccaccgatgatgga	8	6	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:59080107G>A	uc002afj.2	+	2	1045	c.843G>A	c.(841-843)GTG>GTA	p.V281V	FAM63B_uc002afi.2_Silent_p.V281V|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	281										central_nervous_system(1)	1						TTTTTCAGGTGAAACTTCCAC	0.289													A	59080107	G	A	59080107	2	1	166	1	0	0	0	0	0	0	0	1	5597	1277	45	4		4	FAM63B	15	59080107	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2693243	59080107	43451285	967	91509											
FOXB1	27023	broad.mit.edu	37	chr15	60297902	60297902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacggcgtgccgttgaagcCgctgtgccacgcggcgggcc	16	15	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:60297902C>T	uc002agj.1	+	2	1219	c.740C>T	c.(739-741)CCG>CTG	p.P247L	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	247					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			ovary(1)|central_nervous_system(1)	2						CCGTTGAAGCCGCTGTGCCAC	0.721													T	60297902	C	T	60297902	3	4	166	1	0	0	0	0	1	0	0	0	5992	652	23	1	742	1	FOXB1	15	60297902	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1217795	60297902	42233490	968	91510											
TLN2	83660	broad.mit.edu	37	chr15	63004189	63004189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggtcagatgcagaagcCgaaatcgacatggagaattc	12	7	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63004189C>T	uc002alb.3	+	19	2547	c.2547C>T	c.(2545-2547)GCC>GCT	p.A849A		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	849					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						ATGCAGAAGCCGAAATCGACA	0.517													T	63004189	C	T	63004189	2	4	166	1	0	0	0	0	0	0	0	1	15945	639	23	1		1	TLN2	15	63004189	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2706287	63004189	39527203	969	91511											
LACTB	114294	broad.mit.edu	37	chr15	63433525	63433525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtcaacacaccttacGtggataactcctataaatgg	7	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63433525G>A	uc002alw.2	+	6	1204	c.1165G>A	c.(1165-1167)GTG>ATG	p.V389M		NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	389						mitochondrion	hydrolase activity				0						CACACCTTACGTGGATAACTC	0.373													A	63433525	G	A	63433525	3	1	166	1	0	0	0	0	1	0	0	0	8597	1145	40	1	1191	1	LACTB	15	63433525	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	429336	63433525	39097867	970	91512											
HERC1	8925	broad.mit.edu	37	chr15	63918223	63918223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcagtctccaggatgaGtacatgaggtcagagaagtg	13	7	3	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63918223G>A	uc002amp.2	-	71	13384	c.13236C>T	c.(13234-13236)TAC>TAT	p.Y4412Y		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4412					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCCAGGATGAGTACATGAGGT	0.592													A	63918223	G	A	63918223	2	1	166	1	0	0	0	0	0	0	0	1	7057	1024	36	4		4	HERC1	15	63918223	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	484698	63918223	38613169	971	91513											
HERC1	8925	broad.mit.edu	37	chr15	63918306	63918307	+	Frame_Shift_Ins	INS	-	-	G													tctctcagcgccccatactgINSggggggcactgtgtcaggca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63918305_63918306T>TG	uc002amp.3	-	70	13301_13302	c.13153_13154A>CA	c.(13153-13155)cagfs	p.Q4385fs		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4385					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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						CGCCCCATACTGGGGGGGCACT	0.559													G	63918307	-	G	63918306	7	5	166	1	0	1	1	0	0	0	0	0	7057	1357	47	0	1464	0	HERC1	15	63918306	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	83	63918306	38613086	972	91514											
SNX1	6642	broad.mit.edu	37	chr15	64419453	64419453	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagggccgctttagaaaggTaagtgccatgcagccatttt	13	8	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:64419453T>C	uc002amv.2	+	7	767	c.731_splice	c.e7+2	p.R244_splice	SNX1_uc010bgv.2_Splice_Site|SNX1_uc010uio.1_Splice_Site_p.R244_splice|SNX1_uc002amw.2_Splice_Site_p.R244_splice|SNX1_uc002amx.2_Splice_Site_p.R179_splice|SNX1_uc002amy.2_Splice_Site_p.R173_splice|SNX1_uc010bgw.2_Splice_Site_p.R146_splice	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						TTTAGAAAGGTAAGTGCCATG	0.393													C	64419453	T	C	64419453	5	2	166	1	0	0	0	0	0	0	1	0	14880	1652	57	3	759	3	SNX1	15	64419453	Splice_Site	SNP	T	TCGA-CG-4306-01A-01D-1158-08	501147	64419453	38111939	973	91515											
CSNK1G1	53944	broad.mit.edu	37	chr15	64506165	64506165	+	Frame_Shift_Del	DEL	T	T	-													tgttccctataaggtatgtgTtttttggtttcggggtcaat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:64506164_64506164GT>G	uc002anf.3	-	5	1084	c.604_604AC>C	c.(604-606)cacfs	p.H202fs	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Frame_Shift_Del_p.H202fs|CSNK1G1_uc002anh.1_Frame_Shift_Del_p.H202fs|CSNK1G1_uc002anj.3_Frame_Shift_Del_p.H184fs	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	202	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TAAGGTATGTGTTTTTTGGTT	0.383													-	64506165	T	-	64506165	7	5	166	1	0	1	0	1	0	0	0	0	3954	1722	60	0	693	0	CSNK1G1	15	64506165	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	86712	64506165	38025227	974	91516											
LCTL	197021	broad.mit.edu	37	chr15	66845477	66845477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcctttccgtgatgtAccgagtagtaaaatgaccta	9	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:66845477A>G	uc002aqc.2	-	9	1174	c.1042T>C	c.(1042-1044)TAC>CAC	p.Y348H	LCTL_uc002aqd.3_Missense_Mutation_p.Y175H|LCTL_uc010bhw.2_Missense_Mutation_p.Y46H	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	348	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TCCGTGATGTACCGAGTAGTA	0.527													G	66845477	A	G	66845477	3	3	166	1	0	0	0	0	1	0	0	0	8694	391	14	3	681	3	LCTL	15	66845477	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	2339312	66845477	35685915	975	91517											
UACA	55075	broad.mit.edu	37	chr15	70961645	70961645	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattttggagcttcagtcGgtcttgttttgctgactcac	9	9	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:70961645G>A	uc002asr.2	-	16	1482	c.1378C>T	c.(1378-1380)CGA>TGA	p.R460*	UACA_uc010uke.1_Nonsense_Mutation_p.R351*|UACA_uc002asq.2_Nonsense_Mutation_p.R447*|UACA_uc010bin.1_Nonsense_Mutation_p.R435*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	460	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						AGCTTCAGTCGGTCTTGTTTT	0.388													A	70961645	G	A	70961645	4	1	166	1	0	0	0	0	0	1	0	0	16821	1124	39	1	2888	1	UACA	15	70961645	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4116168	70961645	31569747	976	91518											
NEO1	4756	broad.mit.edu	37	chr15	73418762	73418762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttttagatccTgaggtgatatcagacttggt	8	4	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:73418762T>C	uc002avm.3	+	4	871	c.729T>C	c.(727-729)CCT>CCC	p.P243P	NEO1_uc010ukx.1_Silent_p.P243P|NEO1_uc010uky.1_Silent_p.P243P|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	243	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TTTTAGATCCTGAGGTGATAT	0.269													C	73418762	T	C	73418762	2	2	166	1	0	0	0	0	0	0	0	1	10336	1567	55	3		3	NEO1	15	73418762	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2457117	73418762	29112630	977	91519											
TMC3	342125	broad.mit.edu	37	chr15	81631013	81631013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaaagcaggagtactgcGggcaggatgaccacggggct	15	10	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:81631013G>A	uc002bgo.1	-	18	2064	c.2064C>T	c.(2062-2064)CCC>CCT	p.P688P	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.P688P	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	688	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						GGAGTACTGCGGGCAGGATGA	0.463													A	81631013	G	A	81631013	2	1	166	1	0	0	0	0	0	0	0	1	15983	1103	39	1		1	TMC3	15	81631013	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	8212251	81631013	20900379	978	91520											
MEX3B	84206	broad.mit.edu	37	chr15	82336392	82336392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgcggccgggggtgggCgtgatgctgggggtgggctt	24	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:82336392C>T	uc002bgq.1	-	2	1134	c.819G>A	c.(817-819)ACG>ACA	p.T273T		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	273					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CGGGGGTGGGCGTGATGCTGG	0.652													T	82336392	C	T	82336392	2	4	166	1	0	0	0	0	0	0	0	1	9510	755	27	1		1	MEX3B	15	82336392	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	705379	82336392	20195000	979	91521											
WDR73	84942	broad.mit.edu	37	chr15	85191826	85191826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaaaatcctccatggcGcactttgaaatctctttctg	7	11	3	2	rs150818024	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:85191826G>A	uc002bkw.2	-	4	245	c.229C>T	c.(229-231)CGC>TGC	p.R77C	WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_Missense_Mutation_p.R77C	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	77											0						CCTCCATGGCGCACTTTGAAA	0.433													A	85191826	G	A	85191826	3	1	166	1	0	0	0	0	1	0	0	0	17320	1087	38	1	927	1	WDR73	15	85191826	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2855434	85191826	17339566	980	91522											
AKAP13	11214	broad.mit.edu	37	chr15	86278855	86278855	+	Frame_Shift_Del	DEL	A	A	-													acggaatcagatagtggcctAaaaaaggtatttctctttaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:86278854_86278854TA>T	uc002blv.1	+	31	7675	c.7505_7505TA>T	c.(7504-7506)ctafs	p.L2502fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.L2506fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.L967fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.L747fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2502	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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|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						GATAGTGGCCTAAAAAAGGTA	0.353													-	86278855	A	-	86278855	7	5	166	1	0	1	0	1	0	0	0	0	449	349	13	0	7698	0	AKAP13	15	86278855	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	1087029	86278855	16252537	981	91523											
AGBL1	123624	broad.mit.edu	37	chr15	86838491	86838491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttctgctccagactcaTcttgacatcctggaaaagag	7	10	3	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:86838491T>C	uc002blz.1	+	16	2168	c.2088T>C	c.(2086-2088)CAT>CAC	p.H696H	AGBL1_uc002bma.1_Silent_p.H427H|AGBL1_uc002bmb.1_Silent_p.H390H	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	696					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TCCAGACTCATCTTGACATCC	0.408													C	86838491	T	C	86838491	2	2	166	1	0	0	0	0	0	0	0	1	375	1432	50	3		3	AGBL1	15	86838491	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	559636	86838491	15692901	982	91524											
DET1	55070	broad.mit.edu	37	chr15	89074530	89074530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggttcaggtgctcaccaTtggccgcaacattggtaatg	11	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:89074530T>C	uc002bmr.2	-	2	559	c.407A>G	c.(406-408)AAT>AGT	p.N136S	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.N147S	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	136						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTGCTCACCATTGGCCGCAAC	0.552													C	89074530	T	C	89074530	3	2	166	1	0	0	0	0	1	0	0	0	4450	1493	52	3	1261	3	DET1	15	89074530	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2236039	89074530	13456862	983	91525											
ANPEP	290	broad.mit.edu	37	chr15	90346503	90346503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacaggttcaggtagatGgtgttctggtaggcaaaggt	14	7	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:90346503G>A	uc002bop.3	-	10	1828	c.1536C>T	c.(1534-1536)ACC>ACT	p.T512T		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	512	Extracellular.|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			ovary(3)|skin(1)	4	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)	TCAGGTAGATGGTGTTCTGGT	0.617													A	90346503	G	A	90346503	2	1	166	1	0	0	0	0	0	0	0	1	710	1335	47	4		4	ANPEP	15	90346503	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1271973	90346503	12184889	984	91526											
BLM	641	broad.mit.edu	37	chr15	91346819	91346819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttattcacgacacaatgccGaaagactttttaaaaagctg	6	9	1	1	rs140387675		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:91346819G>A	uc002bpr.2	+	18	3524	c.3427G>A	c.(3427-3429)GAA>AAA	p.E1143K	BLM_uc010uqh.1_Missense_Mutation_p.E1143K|BLM_uc010uqi.1_Missense_Mutation_p.E768K|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Missense_Mutation_p.E118K	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1143					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			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACACAATGCCGAAAGACTTTT	0.373			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				A	91346819	G	A	91346819	3	1	166	1	0	0	0	0	1	0	0	0	1445	1059	37	1	3493	1	BLM	15	91346819	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1000316	91346819	11184573	985	91527											
IGF1R	3480	broad.mit.edu	37	chr15	99434589	99434589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggaagcgggcgtgcaccGagaacaatgagtgctgccac	16	10	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:99434589G>A	uc002bul.2	+	3	726	c.676G>A	c.(676-678)GAG>AAG	p.E226K	IGF1R_uc010urq.1_Missense_Mutation_p.E226K|IGF1R_uc010bon.2_Missense_Mutation_p.E226K	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	226					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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	GGCGTGCACCGAGAACAATGA	0.647													A	99434589	G	A	99434589	3	1	166	1	0	0	0	0	1	0	0	0	7571	1059	37	1	686	1	IGF1R	15	99434589	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	8087770	99434589	3096803	986	91528											
SYNM	23336	broad.mit.edu	37	chr15	99670476	99670476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgattccatgacagaaacCgtagcagaaaacatcgttac	9	10	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:99670476C>T	uc002bup.2	+	6	2031	c.1911C>T	c.(1909-1911)ACC>ACT	p.T637T	SYNM_uc002buo.2_Silent_p.T637T|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	637	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			ovary(3)|central_nervous_system(1)	4						TGACAGAAACCGTAGCAGAAA	0.502													T	99670476	C	T	99670476	2	4	166	1	0	0	0	0	0	0	0	1	15452	639	23	1		1	SYNM	15	99670476	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	235887	99670476	2860916	987	91529											
RAB40C	57799	broad.mit.edu	37	chr16	675439	675439	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgttgcaggggatccTcttggtgtatgacatcacca	11	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:675439T>G	uc002chr.2	+	4	388	c.272T>G	c.(271-273)CTC>CGC	p.L91R	RAB40C_uc002chq.2_Missense_Mutation_p.L91R	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	91					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				CAGGGGATCCTCTTGGTGTAT	0.642													G	675439	T	G	675439	3	3	166	1	0	0	0	0	1	0	0	0	12942	1551	54	5	286	5	RAB40C	16	675439	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08		675439	89679314	988	91530											
BAIAP3	8938	broad.mit.edu	37	chr16	1396487	1396487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagcacatcagtctctcGcctgactccatccagaacga	7	15	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:1396487G>A	uc002clk.1	+	26	2643	c.2643G>A	c.(2641-2643)TCG>TCA	p.S881S	BAIAP3_uc002clj.2_Silent_p.S863S|BAIAP3_uc010uuz.1_Silent_p.S846S|BAIAP3_uc010uva.1_Silent_p.S818S|BAIAP3_uc010uvc.1_Silent_p.S810S	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	881					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TCAGTCTCTCGCCTGACTCCA	0.647													A	1396487	G	A	1396487	2	1	166	1	0	0	0	0	0	0	0	1	1304	1074	38	1		1	BAIAP3	16	1396487	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	721048	1396487	88958266	989	91531											
HAGH	3029	broad.mit.edu	37	chr16	1867196	1867196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggggagccggcccaagacCtccagcagagctttacacat	13	13	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:1867196C>A	uc002cna.2	-	6	1025	c.618G>T	c.(616-618)GAG>GAT	p.E206D	HAGH_uc002cmz.2_Missense_Mutation_p.E158D|HAGH_uc010uvp.1_Missense_Mutation_p.R170M|HAGH_uc002cnb.1_Missense_Mutation_p.E158D	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	206					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GGCCCAAGACCTCCAGCAGAG	0.647													A	1867196	C	A	1867196	3	1	166	1	0	0	0	0	1	0	0	0	6945	680	24	5	324	5	HAGH	16	1867196	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	470709	1867196	88487557	990	91532											
CCNF	899	broad.mit.edu	37	chr16	2487153	2487153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctgatgaggcccgcGcagaagtgaatggcctgaag	15	9	1	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:2487153G>A	uc002cqd.1	+	5	458	c.370G>A	c.(370-372)GCA>ACA	p.A124T	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	124					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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TGAGGCCCGCGCAGAAGTGAA	0.592													A	2487153	G	A	2487153	3	1	166	1	0	0	0	0	1	0	0	0	2922	1087	38	1	388	1	CCNF	16	2487153	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	619957	2487153	87867600	991	91533											
AMDHD2	51005	broad.mit.edu	37	chr16	2577820	2577820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgggagaagcggggcgcGcaccccgaggcccacctccg	16	17	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:2577820G>A	uc002cqq.2	+	5	559	c.462G>A	c.(460-462)GCG>GCA	p.A154A	AMDHD2_uc002cqp.2_Silent_p.A154A|AMDHD2_uc010uwc.1_Silent_p.A154A|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	154				A -> T (in Ref. 1; AAD27723).	N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						AGCGGGGCGCGCACCCCGAGG	0.697													A	2577820	G	A	2577820	2	1	166	1	0	0	0	0	0	0	0	1	568	1074	38	1		1	AMDHD2	16	2577820	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	90667	2577820	87776933	992	91534											
SRRM2	23524	broad.mit.edu	37	chr16	2818182	2818182	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcatcgtcgtcgtcGtcctcctcctcctctggctc	6	18	4	0	rs149616150	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:2818182G>C	uc002crk.2	+	11	8202	c.7653G>C	c.(7651-7653)TCG>TCC	p.S2551S	SRRM2_uc002crj.1_Silent_p.S2455S|SRRM2_uc002crl.1_Silent_p.S2551S|SRRM2_uc010bsu.1_Silent_p.S2455S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2551	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						cgtcgtcgtcgtcctcctcct	0.368													C	2818182	G	C	2818182	2	2	166	1	0	0	0	0	0	0	0	1	15168	1132	40	5		5	SRRM2	16	2818182	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	240362	2818182	87536571	993	91535											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140201	3140201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgagctctggcggaagcGgtggccgcacaggtggcagg	20	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:3140201G>A	uc002ctv.1	-	5	1157	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R18C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R275C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R285C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	357	C2H2-type 3.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TGGCGGAAGCGGTGGCCGCAC	0.692													A	3140201	G	A	3140201	3	1	166	1	0	0	0	0	1	0	0	0	18224	1116	39	1	1112	1	ZSCAN10	16	3140201	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	322019	3140201	87214552	994	91536											
ZNF597	146434	broad.mit.edu	37	chr16	3487250	3487250	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtacacatttttggctcctTcccagggagaatcaagaatt	8	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:3487250T>A	uc002cvd.2	-	4	633	c.449A>T	c.(448-450)GAA>GTA	p.E150V		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTGGCTCCTTCCCAGGGAGA	0.378													A	3487250	T	A	3487250	3	1	166	1	0	0	0	0	1	0	0	0	18024	1783	62	5	829	5	ZNF597	16	3487250	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	347049	3487250	86867503	995	91537											
CLUAP1	23059	broad.mit.edu	37	chr16	3558347	3558347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcaagcagatgggtatgCggtaaaagagctgctgaaga	13	5	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:3558347C>T	uc002cvk.1	+	4	383	c.278C>T	c.(277-279)GCG>GTG	p.A93V	CLUAP1_uc002cvj.1_Missense_Mutation_p.A93V|CLUAP1_uc002cvl.1_Missense_Mutation_p.A93V|CLUAP1_uc002cvm.1_5'Flank	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	93						nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GATGGGTATGCGGTAAAAGAG	0.403													T	3558347	C	T	3558347	3	4	166	1	0	0	0	0	1	0	0	0	3569	768	27	1	292	1	CLUAP1	16	3558347	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	71097	3558347	86796406	996	91538											
TFAP4	7023	broad.mit.edu	37	chr16	4308193	4308193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttcacgatgacagctcGccgctgctcctcctccagct	9	17	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:4308193G>A	uc010uxg.1	-	7	1134	c.880C>T	c.(880-882)CGA>TGA	p.R294*		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	294					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ATGACAGCTCGCCGCTGCTCC	0.652													A	4308193	G	A	4308193	4	1	166	1	0	0	0	0	0	1	0	0	15789	1095	38	1	140	1	TFAP4	16	4308193	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	749846	4308193	86046560	997	91539											
A2BP1	54715	broad.mit.edu	37	chr16	7703854	7703854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagccaccgccgcggcCgcctaccgaggggcgcacct	13	20	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:7703854C>T	uc002cys.2	+	12	1783	c.795C>T	c.(793-795)GCC>GCT	p.A265A	A2BP1_uc010buf.1_Silent_p.A265A|A2BP1_uc002cyr.1_Silent_p.A264A|A2BP1_uc002cyt.2_Silent_p.A238A|A2BP1_uc010uxz.1_Silent_p.A308A|A2BP1_uc010uya.1_Silent_p.A222A|A2BP1_uc002cyv.1_Silent_p.A265A|A2BP1_uc010uyb.1_Silent_p.A265A|A2BP1_uc002cyw.2_Silent_p.A285A|A2BP1_uc002cyy.2_Silent_p.A285A|A2BP1_uc002cyx.2_Silent_p.A285A|A2BP1_uc010uyc.1_Silent_p.A258A	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	265					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CCGCCGCGGCCGCCTACCGAG	0.592													T	7703854	C	T	7703854	2	4	166	1	0	0	0	0	0	0	0	1	3	639	23	1		1	A2BP1	16	7703854	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3395661	7703854	82650899	998	91540											
TMEM186	25880	broad.mit.edu	37	chr16	8889880	8889880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgcgtccatagcgcaGggtgacgtagaaggtctgtt	15	8	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:8889880G>A	uc002cze.2	-	2	605	c.571C>T	c.(571-573)CTG>TTG	p.L191L	PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	191						integral to membrane|mitochondrion				ovary(1)	1						CCATAGCGCAGGGTGACGTAG	0.542													A	8889880	G	A	8889880	2	1	166	1	0	0	0	0	0	0	0	1	16105	991	35	4		4	TMEM186	16	8889880	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1186026	8889880	81464873	999	91541											
TNFRSF17	608	broad.mit.edu	37	chr16	12061469	12061469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacattgacctggaaaagaGcaggactggtgatgaaatta	11	5	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:12061469G>A	uc002dbv.2	+	3	538	c.320G>A	c.(319-321)AGC>AAC	p.S107N	TNFRSF17_uc010buy.2_3'UTR|TNFRSF17_uc010buz.2_Missense_Mutation_p.S58N	NM_001192	NP_001183	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily,	107	Cytoplasmic (Potential).				cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane					0						CTGGAAAAGAGCAGGACTGGT	0.463			T	IL2	intestinal T-cell lymphoma								A	12061469	G	A	12061469	3	1	166	1	0	0	0	0	1	0	0	0	16287	971	34	2	330	2	TNFRSF17	16	12061469	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3171589	12061469	78293284	1000	91542											
MKL2	57496	broad.mit.edu	37	chr16	14340931	14340932	+	Frame_Shift_Ins	INS	-	-	A													aaaatgcaacttgaggttgaINSaaaacgagggcagcagcagc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:14340930_14340931G>GA	uc010uza.2	+	11	1968_1969	c.1813_1814G>GA	c.(1813-1815)gaafs	p.E605fs	MKL2_uc002dcg.3_Frame_Shift_Ins_p.E605fs|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	594					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						ACTTGAGGTTGAAAAACGAGGG	0.54													A	14340932	-	A	14340931	7	5	166	1	0	1	1	0	0	0	0	0	9602	246	9	0	1852	0	MKL2	16	14340931	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	2279462	14340931	76013822	1001	91543											
ABCC6	368	broad.mit.edu	37	chr16	16251628	16251629	+	Frame_Shift_Ins	INS	-	-	G													tctgcccgccctgaggccagINSgggggctgagctgcacatgt					rs72664233		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:16251627_16251628A>AG	uc002den.4	-	26	3811_3812	c.3774_3775T>CT	c.(3772-3777)ccctggfs	p.P1258fs	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1258					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)		CCCTGAGGCCAGGGGGGCTGAG	0.624													G	16251629	-	G	16251628	7	5	166	1	0	1	1	0	0	0	0	0	57	987	35	0	757	0	ABCC6	16	16251628	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1910697	16251628	74103125	1002	91544											
SMG1	23049	broad.mit.edu	37	chr16	18844470	18844470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaaatatgatttgccGgaaattcgaattcaattcct	7	7	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:18844470G>A	uc002dfm.2	-	51	8947	c.8584C>T	c.(8584-8586)CGG>TGG	p.R2862W	SMG1_uc010bwb.2_Missense_Mutation_p.R2722W|SMG1_uc010bwa.2_Missense_Mutation_p.R1593W	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2862					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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ATGATTTGCCGGAAATTCGAA	0.343													A	18844470	G	A	18844470	3	1	166	1	0	0	0	0	1	0	0	0	14795	1115	39	1	2453	1	SMG1	16	18844470	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2592842	18844470	71510283	1003	91545											
SYT17	51760	broad.mit.edu	37	chr16	19195148	19195148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtgatcgaggccagggaCctgccacctcccatctccca	10	18	1	1	rs143824200		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:19195148C>T	uc002dfw.2	+	5	961	c.630C>T	c.(628-630)GAC>GAT	p.D210D	SYT17_uc002dfx.2_Silent_p.D149D|SYT17_uc002dfy.2_Silent_p.D206D|SYT17_uc002dfv.1_Silent_p.D149D	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	210	C2 1.					membrane|synaptic vesicle	transporter activity			ovary(1)	1						AGGCCAGGGACCTGCCACCTC	0.602													T	19195148	C	T	19195148	2	4	166	1	0	0	0	0	0	0	0	1	15470	506	18	4		4	SYT17	16	19195148	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	350678	19195148	71159605	1004	91546											
TMC5	79838	broad.mit.edu	37	chr16	19501878	19501878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacttctttttcatcctcaCcctcattgtgctgtgagtgt	7	12	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:19501878C>A	uc002dgc.3	+	18	3484	c.2735C>A	c.(2734-2736)ACC>AAC	p.T912N	TMC5_uc010vaq.1_Missense_Mutation_p.T860N|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.T912N|TMC5_uc002dgd.1_Missense_Mutation_p.T666N|TMC5_uc002dge.3_Missense_Mutation_p.T666N|TMC5_uc002dgf.3_Missense_Mutation_p.T595N|TMC5_uc002dgg.3_Missense_Mutation_p.T553N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	912	Helical; (Potential).					integral to membrane				skin(1)	1						TTCATCCTCACCCTCATTGTG	0.512													A	19501878	C	A	19501878	3	1	166	1	0	0	0	0	1	0	0	0	15985	507	18	5	3111	5	TMC5	16	19501878	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	306730	19501878	70852875	1005	91547											
DNAH3	55567	broad.mit.edu	37	chr16	20975756	20975756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcatgtactcaactccTtgctgtttgaatgttgcctt	7	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:20975756T>C	uc010vbe.1	-	53	9450	c.9450A>G	c.(9448-9450)CAA>CAG	p.Q3150Q	DNAH3_uc010vbd.1_Silent_p.Q585Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3150	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACTCAACTCCTTGCTGTTTGA	0.443													C	20975756	T	C	20975756	2	2	166	1	0	0	0	0	0	0	0	1	4603	1606	56	3		3	DNAH3	16	20975756	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1473878	20975756	69378997	1006	91548											
HS3ST2	9956	broad.mit.edu	37	chr16	22826074	22826074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgacctgggtcggagccGcctcctcggcgcgcctcgct	14	18	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:22826074G>A	uc002dli.2	+	1	215	c.143G>A	c.(142-144)CGC>CAC	p.R48H	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	48	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		GGTCGGAGCCGCCTCCTCGGC	0.706													A	22826074	G	A	22826074	3	1	166	1	0	0	0	0	1	0	0	0	7364	1087	38	1	145	1	HS3ST2	16	22826074	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1850318	22826074	67528679	1007	91549											
CHP2	63928	broad.mit.edu	37	chr16	23767738	23767738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctctatgacctggatcgcGatgggaagatctccaggcat	12	10	2	2	rs79455352	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:23767738G>A	uc002dmb.1	+	5	805	c.382G>A	c.(382-384)GAT>AAT	p.D128N		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	128	EF-hand 3.|1 (Potential).						calcium ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537													A	23767738	G	A	23767738	3	1	166	1	0	0	0	0	1	0	0	0	3367	1058	37	1	400	1	CHP2	16	23767738	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	941664	23767738	66587015	1008	91550											
GTF3C1	2975	broad.mit.edu	37	chr16	27514179	27514179	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagacagacagctccttaCgtgaataaactctcgattaa	7	10	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:27514179C>T	uc002dov.1	-	11	1947	c.1907_splice	c.e11+1	p.T636_splice	GTF3C1_uc002dou.2_Splice_Site_p.T636_splice	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide							transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						cagCTCCTTACGTGAATAAAC	0.418													T	27514179	C	T	27514179	5	4	166	1	0	0	0	0	0	0	1	0	6872	550	19	1	4529	1	GTF3C1	16	27514179	Splice_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3746441	27514179	62840574	1009	91551											
XPO6	23214	broad.mit.edu	37	chr16	28167579	28167579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacccccagccggccgcGctcctgacccgagacacagt	11	19	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:28167579G>A	uc002dpa.1	-	7	1414	c.913C>T	c.(913-915)CGC>TGC	p.R305C	XPO6_uc002dpb.1_Missense_Mutation_p.R291C|XPO6_uc010vcp.1_Missense_Mutation_p.R305C	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	305					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						AGCCGGCCGCGCTCCTGACCC	0.537													A	28167579	G	A	28167579	3	1	166	1	0	0	0	0	1	0	0	0	17445	1087	38	1	2536	1	XPO6	16	28167579	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	653400	28167579	62187174	1010	91552											
ATP2A1	487	broad.mit.edu	37	chr16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C													acctggacatcatggaccgcINScccccccggagccccaagga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|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	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|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						ATCATGGACCGCCCCCCCCGGA	0.658													C	28913641	-	C	28913640	7	5	166	1	0	1	1	0	0	0	0	0	1136	726	26	0	2523	0	ATP2A1	16	28913640	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	746061	28913640	61441113	1011	91553											
PRSS36	146547	broad.mit.edu	37	chr16	31151860	31151860	+	Frame_Shift_Del	DEL	G	G	-													acacccagcagctggcccccGgggggatacccgccgggtgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:31151859_31151859CG>C	uc002ebd.3	-	12	2180	c.2121_2121CG>G	c.(2119-2121)ccgfs	p.P707fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.P482fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.P702fs|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	707	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGCTGGCCCCCGGGGGGATAC	0.697													-	31151860	G	-	31151860	7	5	166	1	0	1	0	1	0	0	0	0	12625	1116	39	0	459	0	PRSS36	16	31151860	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	2238220	31151860	59202893	1012	91554											
ITGAD	3681	broad.mit.edu	37	chr16	31434704	31434704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccagcgagatctggccaTcagcattaacttctgggttc	10	12	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:31434704T>C	uc002ebv.1	+	25	2940	c.2891T>C	c.(2890-2892)ATC>ACC	p.I964T	ITGAD_uc010cap.1_Missense_Mutation_p.I965T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	964	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GATCTGGCCATCAGCATTAAC	0.547													C	31434704	T	C	31434704	3	2	166	1	0	0	0	0	1	0	0	0	7884	1435	50	3	2989	3	ITGAD	16	31434704	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	282844	31434704	58920049	1013	91555											
ABCC12	94160	broad.mit.edu	37	chr16	48174686	48174686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttcaaccggatggccGtgcggtagttgatggcccag	13	13	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:48174686G>A	uc002efc.1	-	4	915	c.569C>T	c.(568-570)ACG>ATG	p.T190M	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.T190M|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	190	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGGATGGCCGTGCGGTAGTT	0.532													A	48174686	G	A	48174686	3	1	166	1	0	0	0	0	1	0	0	0	52	1145	40	1	3614	1	ABCC12	16	48174686	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	16739982	48174686	42180067	1014	91556											
NKD1	85407	broad.mit.edu	37	chr16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctccagcaacggctccGgggcacccaggacgggagca	15	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:50667286G>A	uc002egg.1	+	10	1231	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	336					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642													A	50667286	G	A	50667286	3	1	166	1	0	0	0	0	1	0	0	0	10441	1116	39	1	1045	1	NKD1	16	50667286	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2492600	50667286	39687467	1015	91557											
CHD9	80205	broad.mit.edu	37	chr16	53358011	53358011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaagcaggcgggggagacGgcctaaaagtggaattgcaa	16	6	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:53358011G>A	uc002ehb.2	+	38	8062	c.7898G>A	c.(7897-7899)CGG>CAG	p.R2633Q	CHD9_uc002egy.2_Missense_Mutation_p.R2617Q|CHD9_uc002ehc.2_Missense_Mutation_p.R2618Q|CHD9_uc002ehf.2_Missense_Mutation_p.R1731Q|CHD9_uc010cbw.2_Missense_Mutation_p.R699Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2633					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CGGGGGAGACGGCCTAAAAGT	0.483													A	53358011	G	A	53358011	3	1	166	1	0	0	0	0	1	0	0	0	3332	1116	39	1	8000	1	CHD9	16	53358011	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2690725	53358011	36996742	1016	91558											
NUDT21	11051	broad.mit.edu	37	chr16	56485017	56485017	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggttgatggtgcgctccAgggtgaggggcttcgtctgc	17	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:56485017A>C	uc002eja.2	-	1	245	c.98T>G	c.(97-99)CTG>CGG	p.L33R	OGFOD1_uc002ejb.2_5'Flank|OGFOD1_uc002ejc.2_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	33	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				0						GGTGCGCTCCAGGGTGAGGGG	0.637													C	56485017	A	C	56485017	3	2	166	1	0	0	0	0	1	0	0	0	10738	188	7	5	613	5	NUDT21	16	56485017	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	3127006	56485017	33869736	1017	91559											
BBS2	583	broad.mit.edu	37	chr16	56536265	56536265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttacggagttccagcaaCagattctgcttcttctgact	8	10	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:56536265C>T	uc002ejd.2	-	9	1278	c.1044G>A	c.(1042-1044)CTG>CTA	p.L348L	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	348					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			ovary(1)	1						GTTCCAGCAACAGATTCTGCT	0.537									Bardet-Biedl_syndrome				T	56536265	C	T	56536265	2	4	166	1	0	0	0	0	0	0	0	1	1338	465	17	4		4	BBS2	16	56536265	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	51248	56536265	33818488	1018	91560											
CX3CL1	6376	broad.mit.edu	37	chr16	57416231	57416231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagctgccgacgggcGtgactggttcctcagggacc	14	15	1	2	rs138964688	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:57416231G>A	uc002eli.2	+	3	548	c.481G>A	c.(481-483)GTG>ATG	p.V161M		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	161	Mucin-like stalk.|Extracellular (Potential).				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				0						GCCGACGGGCGTGACTGGTTC	0.672													A	57416231	G	A	57416231	3	1	166	1	0	0	0	0	1	0	0	0	4074	1145	40	1	491	1	CX3CL1	16	57416231	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	879966	57416231	32938522	1019	91561											
CCDC135	84229	broad.mit.edu	37	chr16	57760170	57760170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaacaagatcatcatgaCgcccgacatgtgcatcagct	9	12	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:57760170C>T	uc002emi.2	+	13	2038	c.1949C>T	c.(1948-1950)ACG>ATG	p.T650M	CCDC135_uc002emj.2_Missense_Mutation_p.T650M|CCDC135_uc002emk.2_Missense_Mutation_p.T585M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	650						cytoplasm				central_nervous_system(1)	1						ATCATCATGACGCCCGACATG	0.642													T	57760170	C	T	57760170	3	4	166	1	0	0	0	0	1	0	0	0	2769	536	19	1	1995	1	CCDC135	16	57760170	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	343939	57760170	32594583	1020	91562											
CCDC113	29070	broad.mit.edu	37	chr16	58296349	58296349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagttgaagatagagaacGctcaatttcttgagacaatt	9	6	2	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:58296349G>A	uc002ene.2	+	6	767	c.688G>A	c.(688-690)GCT>ACT	p.A230T	CCDC113_uc010vid.1_Missense_Mutation_p.A176T	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	230	Potential.					protein complex					0						GATAGAGAACGCTCAATTTCT	0.423													A	58296349	G	A	58296349	3	1	166	1	0	0	0	0	1	0	0	0	2750	1087	38	1	710	1	CCDC113	16	58296349	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	536179	58296349	32058404	1021	91563											
CDH11	1009	broad.mit.edu	37	chr16	65005898	65005898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcataaggggcagcaaacTtgggagcattatcgttgaca	11	8	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:65005898T>A	uc002eoi.2	-	10	1894	c.1460A>T	c.(1459-1461)AAG>ATG	p.K487M	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K487M|CDH11_uc010vin.1_Missense_Mutation_p.K361M	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	487	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCAGCAAACTTGGGAGCATT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	65005898	T	A	65005898	3	1	166	1	0	0	0	0	1	0	0	0	3097	1609	56	5	946	5	CDH11	16	65005898	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	6709549	65005898	25348855	1022	91564											
CDH16	1014	broad.mit.edu	37	chr16	66948222	66948222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagacttccacggtggcaGtggcctggtggcctgaggcc	17	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:66948222G>A	uc002eql.2	-	7	750	c.677C>T	c.(676-678)ACT>ATT	p.T226I	CDH16_uc010cdy.2_Missense_Mutation_p.T226I|CDH16_uc002eqm.2_Missense_Mutation_p.T129I	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	226	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACGGTGGCAGTGGCCTGGTG	0.592													A	66948222	G	A	66948222	3	1	166	1	0	0	0	0	1	0	0	0	3101	1029	36	4	1860	4	CDH16	16	66948222	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1942324	66948222	23406531	1023	91565											
B3GNT9	84752	broad.mit.edu	37	chr16	67184159	67184159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaaagggtcccgtaggcGtgggcggcgccggtgtgtcc	18	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:67184159G>A	uc002erf.2	-	2	551	c.230C>T	c.(229-231)ACG>ATG	p.T77M	uc002erg.1_3'UTR	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	77	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						TCCCGTAGGCGTGGGCGGCGC	0.716													A	67184159	G	A	67184159	3	1	166	1	0	0	0	0	1	0	0	0	1264	1145	40	1	982	1	B3GNT9	16	67184159	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	235937	67184159	23170594	1024	91566											
ACD	65057	broad.mit.edu	37	chr16	67692931	67692931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacacgagtgcccccTgatgctcctggtcctcccgc	10	19	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:67692931T>C	uc002etq.3	-	7	1140	c.803A>G	c.(802-804)CAG>CGG	p.Q268R	ACD_uc002etp.3_Missense_Mutation_p.Q265R|ACD_uc002etr.3_Missense_Mutation_p.Q265R|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	268	Interaction with POT1.				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			pancreas(1)	1		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)		GAGTGCCCCCTGATGCTCCTG	0.622													C	67692931	T	C	67692931	3	2	166	1	0	0	0	0	1	0	0	0	135	1580	55	3	855	3	ACD	16	67692931	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	508772	67692931	22661822	1025	91567											
DUS2L	54920	broad.mit.edu	37	chr16	68104974	68104974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcaaggagggtctgcGgcccctggaggaggtcatgc	15	12	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:68104974G>A	uc002evi.2	+	12	922	c.773G>A	c.(772-774)CGG>CAG	p.R258Q	DUS2L_uc002evj.2_Missense_Mutation_p.R258Q|DUS2L_uc010vkk.1_Missense_Mutation_p.R223Q|DUS2L_uc010cez.2_Missense_Mutation_p.R171Q	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	258					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		GAGGGTCTGCGGCCCCTGGAG	0.527													A	68104974	G	A	68104974	3	1	166	1	0	0	0	0	1	0	0	0	4806	1116	39	1	811	1	DUS2L	16	68104974	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	412043	68104974	22249779	1026	91568											
COG8	84342	broad.mit.edu	37	chr16	69364974	69364975	+	Frame_Shift_Ins	INS	-	-	T													atgccctaggttaccgtactINStggagagctgagtgggagga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:69364973_69364974C>CT	uc002ewy.2	-	4	1678_1679	c.1607_1608G>AG	c.(1606-1608)aagfs	p.K536fs	PDF_uc002ewx.1_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	536					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGTTACCGTACTTGGAGAGCTG	0.505													T	69364975	-	T	69364974	7	5	166	1	0	1	1	0	0	0	0	0	3664	1609	56	0	235	0	COG8	16	69364974	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1260000	69364974	20989779	1027	91569											
NOB1	28987	broad.mit.edu	37	chr16	69782198	69782198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcagcatgccgttcaccGccagcacgtgcagccccatc	9	17	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:69782198G>A	uc002exs.2	-	7	777	c.761C>T	c.(760-762)GCG>GTG	p.A254V		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	254						nucleus	metal ion binding|protein binding				0						GCCGTTCACCGCCAGCACGTG	0.488													A	69782198	G	A	69782198	3	1	166	1	0	0	0	0	1	0	0	0	10511	1087	38	1	489	1	NOB1	16	69782198	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	417224	69782198	20572555	1028	91570											
COG4	25839	broad.mit.edu	37	chr16	70514920	70514920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccaggcagctacaggCgcagcctcttgatatcttca	8	14	4	1	rs142971847		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:70514920C>T	uc002ezc.2	-	19	2374	c.2363G>A	c.(2362-2364)CGC>CAC	p.R788H	COG4_uc002eza.2_Missense_Mutation_p.R125H|COG4_uc002ezb.2_Missense_Mutation_p.R244H|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R767H|COG4_uc002eze.2_Missense_Mutation_p.R482H	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	784	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CAGCTACAGGCGCAGCCTCTT	0.627													T	70514920	C	T	70514920	3	4	166	1	0	0	0	0	1	0	0	0	3660	768	27	1	10	1	COG4	16	70514920	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	732722	70514920	19839833	1029	91571											
IL34	146433	broad.mit.edu	37	chr16	70693588	70693588	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccccagggccaaacctgaAgctggtgcggcccaaagccc	12	16	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:70693588A>T	uc002ezh.1	+	5	853	c.470A>T	c.(469-471)AAG>ATG	p.K157M	IL34_uc002ezi.1_Missense_Mutation_p.K156M	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	157					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						CCAAACCTGAAGCTGGTGCGG	0.617													T	70693588	A	T	70693588	3	4	166	1	0	0	0	0	1	0	0	0	7694	72	3	5	488	5	IL34	16	70693588	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	178668	70693588	19661165	1030	91572											
PHLPP2	23035	broad.mit.edu	37	chr16	71715761	71715761	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgctcaggaacctcctcGaggctgtaacacgagagatc	11	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:71715761G>A	uc002fax.2	-	5	789	c.783C>T	c.(781-783)CTC>CTT	p.L261L	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L261L|PHLPP2_uc002fay.1_Silent_p.L261L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	261	LRR 1.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GAACCTCCTCGAGGCTGTAAC	0.478													A	71715761	G	A	71715761	2	1	166	1	0	0	0	0	0	0	0	1	11855	1045	37	1		1	PHLPP2	16	71715761	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1022173	71715761	18638992	1031	91573											
ZFHX3	463	broad.mit.edu	37	chr16	72991758	72991759	+	Frame_Shift_Ins	INS	-	-	CC													gtgtggctgaagacctgctcINScccccctccattctgcaggt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:72991757_72991758T>TCC	uc002fck.3	-	1	2960_2961	c.2287_2288A>GGA	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					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)				GAAGACCTGCTCCCCCCCTCCA	0.624													CC	72991759	-	CC	72991758	7	5	166	1	0	1	1	0	0	0	0	0	17631	864	30	0	8860	0	ZFHX3	16	72991758	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1275997	72991758	17362995	1032	91574											
WDR59	79726	broad.mit.edu	37	chr16	74976648	74976648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaccctcttatcccaTatccgcacatcgccgtcatg	4	17	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:74976648T>C	uc002fdh.1	-	7	624	c.522A>G	c.(520-522)ATA>ATG	p.I174M	WDR59_uc002fdi.2_Missense_Mutation_p.I174M|WDR59_uc002fdj.2_Missense_Mutation_p.I174M	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	174	WD 3.									ovary(1)|breast(1)	2						TCTTATCCCATATCCGCACAT	0.473													C	74976648	T	C	74976648	3	2	166	1	0	0	0	0	1	0	0	0	17305	1396	49	3	2482	3	WDR59	16	74976648	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1984890	74976648	15378105	1033	91575											
TERF2IP	54386	broad.mit.edu	37	chr16	75681991	75681991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccagcccggggaggcgCtggccgaggcctcgggtgat	19	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:75681991C>T	uc002fet.1	+	1	308	c.211C>T	c.(211-213)CTG>TTG	p.L71L	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	71					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)	1						CGGGGAGGCGCTGGCCGAGGC	0.716													T	75681991	C	T	75681991	2	4	166	1	0	0	0	0	0	0	0	1	15760	796	28	2		2	TERF2IP	16	75681991	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	705343	75681991	14672762	1034	91576											
CDYL2	124359	broad.mit.edu	37	chr16	80718806	80718806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttctcaaccgacgggcctCgactgtcacgcagcagcttg	11	14	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:80718806C>T	uc002ffs.2	-	2	350	c.245G>A	c.(244-246)CGA>CAA	p.R82Q		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	82						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CGACGGGCCTCGACTGTCACG	0.527													T	80718806	C	T	80718806	3	4	166	1	0	0	0	0	1	0	0	0	3186	884	31	1	1299	1	CDYL2	16	80718806	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5036815	80718806	9635947	1035	91577											
PKD1L2	114780	broad.mit.edu	37	chr16	81211460	81211460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccagggctgtggaggCgttgcagaagatggcaaagc	18	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:81211460C>T	uc002fgh.1	-	14	2389	c.2389G>A	c.(2389-2391)GCC>ACC	p.A797T	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.2_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	797	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCTGTGGAGGCGTTGCAGAAG	0.592													T	81211460	C	T	81211460	3	4	166	1	0	0	0	0	1	0	0	0	11965	768	27	1	5179	1	PKD1L2	16	81211460	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	492654	81211460	9143293	1036	91578											
KCNG4	93107	broad.mit.edu	37	chr16	84256030	84256030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggtgtggaagatagaCgtggccgggaaggccatgat	18	5	0	4	rs113215329	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:84256030C>T	uc010voc.1	-	3	1474	c.1353G>A	c.(1351-1353)ACG>ACA	p.T451T		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	451	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GGAAGATAGACGTGGCCGGGA	0.642													T	84256030	C	T	84256030	2	4	166	1	0	0	0	0	0	0	0	1	8030	523	19	1		1	KCNG4	16	84256030	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3044570	84256030	6098723	1037	91579											
FOXC2	2303	broad.mit.edu	37	chr16	86601603	86601603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgaggcggcgtccccggCgctgccggtcatcaccaagg	16	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:86601603C>T	uc002fjq.2	+	1	747	c.662C>T	c.(661-663)GCG>GTG	p.A221V		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	221					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				0						GCGTCCCCGGCGCTGCCGGTC	0.766									Late-onset_Hereditary_Lymphedema				T	86601603	C	T	86601603	3	4	166	1	0	0	0	0	1	0	0	0	5995	768	27	1	664	1	FOXC2	16	86601603	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2345573	86601603	3753150	1038	91580											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445714	87445714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagggacggaggacagCgccgggctggagctgggggc	20	10	1	0	rs142665318		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:87445714C>T	uc002fjz.1	-	12	2229	c.2202G>A	c.(2200-2202)GCG>GCA	p.A734A	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.A510A	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	734	Ser-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGGAGGACAGCGCCGGGCTGG	0.572													T	87445714	C	T	87445714	2	4	166	1	0	0	0	0	0	0	0	1	17580	755	27	1		1	ZCCHC14	16	87445714	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	844111	87445714	2909039	1039	91581											
C16orf7	9605	broad.mit.edu	37	chr16	89783024	89783024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatggttggcttcaggcGtgttttccctgcaagccatg	13	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:89783024G>A	uc002fom.1	-	4	402	c.277C>T	c.(277-279)CGC>TGC	p.R93C	C16orf7_uc002fol.1_Missense_Mutation_p.R23C|uc002fon.1_RNA|uc002foo.1_Translation_Start_Site	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	93					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCTTCAGGCGTGTTTTCCCT	0.617													A	89783024	G	A	89783024	3	1	166	1	0	0	0	0	1	0	0	0	1828	1145	40	1	1666	1	C16orf7	16	89783024	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2337310	89783024	571729	1040	91582											
ZNF276	92822	broad.mit.edu	37	chr16	89789790	89789790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctccgagtactgcggcGtcatccaggtcgtgtggggc	15	12	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:89789790G>A	uc002fos.3	+	4	776	c.679G>A	c.(679-681)GTC>ATC	p.V227I	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_Silent_p.A23A|ZNF276_uc002fop.2_Silent_p.A145A|ZNF276_uc002foq.3_Missense_Mutation_p.V152I|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Silent_p.A23A|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.V65I|ZNF276_uc010cit.1_5'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTACTGCGGCGTCATCCAGGT	0.652													A	89789790	G	A	89789790	3	1	166	1	0	0	0	0	1	0	0	0	17808	1145	40	1	693	1	ZNF276	16	89789790	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	6766	89789790	564963	1041	91583											
TUBB3	10381	broad.mit.edu	37	chr16	90001343	90001343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgaggagtatcccgacCgcatcatgaacaccttcagc	10	13	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:90001343C>T	uc002fph.1	+	4	549	c.484C>T	c.(484-486)CGC>TGC	p.R162C	TUBB3_uc002fpf.2_Missense_Mutation_p.R509C|TUBB3_uc010ciz.1_Missense_Mutation_p.R90C|TUBB3_uc002fpg.1_Missense_Mutation_p.R16C|TUBB3_uc002fpi.1_Missense_Mutation_p.R90C|TUBB3_uc002fpj.1_Missense_Mutation_p.R90C|TUBB3_uc010cjb.1_Missense_Mutation_p.R16C|TUBB3_uc002fpk.1_Missense_Mutation_p.R16C	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	162					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		GTATCCCGACCGCATCATGAA	0.642													T	90001343	C	T	90001343	3	4	166	1	0	0	0	0	1	0	0	0	16754	652	23	1	498	1	TUBB3	16	90001343	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	211553	90001343	353410	1042	91584											
C16orf3	750	broad.mit.edu	37	chr16	90095641	90095641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcaggcccttgcactgCacatcgcacgttgagccaca	12	15	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:90095641C>T	uc002fqk.1	-	1	669	c.110G>A	c.(109-111)TGC>TAC	p.C37Y	GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	NM_001214	NP_001205	O95177	CP003_HUMAN	hypothetical protein LOC750	37											0		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)		CCTTGCACTGCACATCGCACG	0.204													T	90095641	C	T	90095641	3	4	166	1	0	0	0	0	1	0	0	0	1812	710	25	2	247	2	C16orf3	16	90095641	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	94298	90095641	259112	1043	91585											
GEMIN4	50628	broad.mit.edu	37	chr17	649966	649966	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttactccccaggcaGgctacccactcgtccgagaa	9	17	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:649966G>T	uc002frs.1	-	2	1436	c.1317C>A	c.(1315-1317)GCC>GCA	p.A439A	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	439					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCCCCAGGCAGGCTACCCACT	0.562													T	649966	G	T	649966	2	4	166	1	0	0	0	0	0	0	0	1	6330	987	35	5		5	GEMIN4	17	649966	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08		649966	80545244	1044	91586											
TUSC5	286753	broad.mit.edu	37	chr17	1183346	1183346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcacaggagccaggctcCgccgcattcctggacctgcc	11	17	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:1183346C>T	uc002fsi.1	+	1	390	c.51C>T	c.(49-51)TCC>TCT	p.S17S		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	17					response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCCAGGCTCCGCCGCATTCC	0.642													T	1183346	C	T	1183346	2	4	166	1	0	0	0	0	0	0	0	1	16776	639	23	1		1	TUSC5	17	1183346	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	533380	1183346	80011864	1045	91587											
YWHAE	7531	broad.mit.edu	37	chr17	1248762	1248762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgattttcgtcttccacGtcctgcagcgcttctttatt	6	13	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:1248762G>A	uc002fsj.2	-	6	899	c.747C>T	c.(745-747)GAC>GAT	p.D249D	YWHAE_uc002fsk.2_Silent_p.D227D|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	249					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CGTCTTCCACGTCCTGCAGCG	0.443													A	1248762	G	A	1248762	2	1	166	1	0	0	0	0	0	0	0	1	17499	1136	40	1		1	YWHAE	17	1248762	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	65416	1248762	79946448	1046	91588											
MNT	4335	broad.mit.edu	37	chr17	2298413	2298413	+	Frame_Shift_Del	DEL	G	G	-													cacctgcggcctgctgggcaGgggggcaggctccttaatgc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:2298413delG	uc002fur.2	-	2	661	c.409delC	c.(409-411)CTGfs	p.L137fs		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	137					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			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CTGCTGGGCAGGGGGGCAGGC	0.662													-	2298413	G	-	2298413	7	5	166	1	0	1	0	1	0	0	0	0	9678	991	35	0	1359	0	MNT	17	2298413	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	1049651	2298413	78896797	1047	91589											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-													tattatgttttctgtagactAaaaaaagtggtaaacctggg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:2579801_2579801TA>T	uc002fuw.4	+	8	1471	c.903_903TA>T	c.(901-903)actfs	p.T301fs	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	301	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|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						TTCTGTAGACTAAAAAAAGTG	0.358													-	2579802	A	-	2579802	7	5	166	1	0	1	0	1	0	0	0	0	11384	363	13	0	934	0	PAFAH1B1	17	2579802	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	281389	2579802	78615408	1048	91590											
NLRP1	22861	broad.mit.edu	37	chr17	5462052	5462052	+	Frame_Shift_Del	DEL	T	T	-													ttccatatgcttctagcgtcTtttccaaatctatgatgcaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:5462051_5462051CT>C	uc002gci.3	-	3	2520	c.1965_1965AG>G	c.(1963-1965)aagfs	p.K655fs	NLRP1_uc002gcg.1_Frame_Shift_Del_p.K655fs|NLRP1_uc002gch.4_Frame_Shift_Del_p.K655fs|NLRP1_uc002gck.3_Frame_Shift_Del_p.K655fs|NLRP1_uc002gcj.3_Frame_Shift_Del_p.K655fs|NLRP1_uc002gcl.3_Frame_Shift_Del_p.K655fs|NLRP1_uc010clh.3_Frame_Shift_Del_p.K655fs	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	655					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.K655*(1)		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)				CTTCTAGCGTCTTTTCCAAAT	0.448													-	5462052	T	-	5462052	7	5	166	1	0	1	0	1	0	0	0	0	10471	1609	56	0	2588	0	NLRP1	17	5462052	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2882250	5462052	75733158	1049	91591											
KIAA0753	9851	broad.mit.edu	37	chr17	6510238	6510238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctttgagctcattcAgttcctttgttcttctagaa	6	10	5	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:6510238A>C	uc002gde.3	-	12	2323	c.1964T>G	c.(1963-1965)CTG>CGG	p.L655R	KIAA0753_uc010vtd.1_Missense_Mutation_p.L111R|KIAA0753_uc010clo.2_Missense_Mutation_p.L356R|KIAA0753_uc010vte.1_Missense_Mutation_p.L356R	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	655						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GAGCTCATTCAGTTCCTTTGT	0.423													C	6510238	A	C	6510238	3	2	166	1	0	0	0	0	1	0	0	0	8191	188	7	5	971	5	KIAA0753	17	6510238	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1048186	6510238	74684972	1050	91592											
SLC16A13	201232	broad.mit.edu	37	chr17	6940102	6940102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccgtggtgatgactGgaggcatcttggctgcgctg	16	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:6940102G>A	uc002geh.2	+	2	564	c.256G>A	c.(256-258)GGA>AGA	p.G86R		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	86	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						GGTGATGACTGGAGGCATCTT	0.607													A	6940102	G	A	6940102	3	1	166	1	0	0	0	0	1	0	0	0	14406	1349	47	4	262	4	SLC16A13	17	6940102	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	429864	6940102	74255108	1051	91593											
DLG4	1742	broad.mit.edu	37	chr17	7095236	7095236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctccagggagcgggggCggatgaagatggcgatgggg	20	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7095236C>T	uc002get.3	-	20	3282	c.2081G>A	c.(2080-2082)CGC>CAC	p.R694H	DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Missense_Mutation_p.R591H|DLG4_uc010cly.2_Missense_Mutation_p.R648H|DLG4_uc010vto.1_Missense_Mutation_p.R691H	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	651	Guanylate kinase-like.				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			ovary(1)|breast(1)	2						GGAGCGGGGGCGGATGAAGAT	0.677													T	7095236	C	T	7095236	3	4	166	1	0	0	0	0	1	0	0	0	4557	768	27	1	234	1	DLG4	17	7095236	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	155134	7095236	74099974	1052	91594											
DVL2	1856	broad.mit.edu	37	chr17	7131322	7131322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagagtgaaataggcctgaGgagagggatcccagcacttg	16	7	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7131322G>T	uc002gez.1	-	10	1358	c.1076C>A	c.(1075-1077)CCT>CAT	p.P359H	DVL2_uc010vtr.1_Missense_Mutation_p.P353H	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	359					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						ATAGGCCTGAGGAGAGGGATC	0.652													T	7131322	G	T	7131322	3	4	166	1	0	0	0	0	1	0	0	0	4836	1000	35	5	1158	5	DVL2	17	7131322	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	36086	7131322	74063888	1053	91595											
DVL2	1856	broad.mit.edu	37	chr17	7132917	7132917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccctcaccctctccaggCggggtggcctctgcttcctt	9	18	3	0	rs142190934		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7132917C>T	uc002gez.1	-	6	1019	c.737G>A	c.(736-738)CGC>CAC	p.R246H	DVL2_uc010vtr.1_Missense_Mutation_p.R240H|DVL2_uc010vts.1_Missense_Mutation_p.R148H|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	246					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						CCTCTCCAGGCGGGGTGGCCT	0.667													T	7132917	C	T	7132917	3	4	166	1	0	0	0	0	1	0	0	0	4836	768	27	1	1513	1	DVL2	17	7132917	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1595	7132917	74062293	1054	91596											
KDM6B	23135	broad.mit.edu	37	chr17	7749498	7749498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggctttgggaacagctTgggcaactgtacgagtcaga	14	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7749498T>C	uc002giw.1	+	6	715	c.339T>C	c.(337-339)CTT>CTC	p.L113L	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	113					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)|pancreas(1)	2						GGGAACAGCTTGGGCAACTGT	0.632													C	7749498	T	C	7749498	2	2	166	1	0	0	0	0	0	0	0	1	8138	1799	63	3		3	KDM6B	17	7749498	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	616581	7749498	73445712	1055	91597											
ALOX12B	242	broad.mit.edu	37	chr17	7976509	7976509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccagagcaccagcagcGtgatgcacgtggtcttcaca	13	12	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7976509G>A	uc002gjy.1	-	14	2144	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	628	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CACCAGCAGCGTGATGCACGT	0.622										Multiple Myeloma(8;0.094)			A	7976509	G	A	7976509	3	1	166	1	0	0	0	0	1	0	0	0	537	1145	40	1	230	1	ALOX12B	17	7976509	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	227011	7976509	73218701	1056	91598											
ALOX12B	242	broad.mit.edu	37	chr17	7980427	7980427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagaactccgcatagcGtacccacgtcttggctagca	10	13	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7980427G>A	uc002gjy.1	-	9	1417	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	uc010cnq.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	386	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						TCCGCATAGCGTACCCACGTC	0.602										Multiple Myeloma(8;0.094)			A	7980427	G	A	7980427	3	1	166	1	0	0	0	0	1	0	0	0	537	1145	40	1	977	1	ALOX12B	17	7980427	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3918	7980427	73214783	1057	91599											
MYH10	4628	broad.mit.edu	37	chr17	8409646	8409646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagacctggccagtgCgccctgcagctcctcctcct	11	18	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:8409646C>T	uc002gll.2	-	25	3379	c.3283G>A	c.(3283-3285)GCA>ACA	p.A1095T	MYH10_uc002glm.2_Missense_Mutation_p.A1126T|MYH10_uc010cnx.2_Missense_Mutation_p.A1104T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1095	Potential.				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			ovary(2)	2						CTGGCCAGTGCGCCCTGCAGC	0.617													T	8409646	C	T	8409646	3	4	166	1	0	0	0	0	1	0	0	0	10030	768	27	1	2715	1	MYH10	17	8409646	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	429219	8409646	72785564	1058	91600											
MFSD6L	162387	broad.mit.edu	37	chr17	8701914	8701914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcctagctccttcaacGgagggcgctaagtagacgtg	14	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:8701914G>A	uc002glp.1	-	1	673	c.525C>T	c.(523-525)TCC>TCT	p.S175S		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	175						integral to membrane				central_nervous_system(1)	1						CTCCTTCAACGGAGGGCGCTA	0.532													A	8701914	G	A	8701914	2	1	166	1	0	0	0	0	0	0	0	1	9536	1103	39	1		1	MFSD6L	17	8701914	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	292268	8701914	72493296	1059	91601											
GLP2R	9340	broad.mit.edu	37	chr17	9760756	9760756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaaactccactgcacgCgcaactacatccacatgaac	5	15	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:9760756C>T	uc002gmd.1	+	6	628	c.628C>T	c.(628-630)CGC>TGC	p.R210C		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	210	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CCACTGCACGCGCAACTACAT	0.493													T	9760756	C	T	9760756	3	4	166	1	0	0	0	0	1	0	0	0	6453	768	27	1	650	1	GLP2R	17	9760756	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1058842	9760756	71434454	1060	91602											
MYH13	8735	broad.mit.edu	37	chr17	10216027	10216027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgcacttggagttcgccGtctccgtgttctcctctgct	10	14	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:10216027G>A	uc002gmk.1	-	31	4319	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1410	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGAGTTCGCCGTCTCCGTGTT	0.532													A	10216027	G	A	10216027	3	1	166	1	0	0	0	0	1	0	0	0	10032	1145	40	1	1631	1	MYH13	17	10216027	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	455271	10216027	70979183	1061	91603											
MYH4	4622	broad.mit.edu	37	chr17	10360811	10360811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttctggtacagccccaccAcagtctcattcagggggtcc	9	15	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:10360811A>G	uc002gmn.2	-	16	1934	c.1823T>C	c.(1822-1824)GTG>GCG	p.V608A	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	608	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			ovary(10)|skin(2)|central_nervous_system(1)	13						CAGCCCCACCACAGTCTCATT	0.517													G	10360811	A	G	10360811	3	3	166	1	0	0	0	0	1	0	0	0	10037	159	6	3	4096	3	MYH4	17	10360811	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	144784	10360811	70834399	1062	91604											
NCOR1	9611	broad.mit.edu	37	chr17	16075241	16075241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggtcgcttcgattccAgtgaatcatgatccactggg	12	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:16075241A>G	uc002gpo.2	-	4	551	c.311T>C	c.(310-312)CTG>CCG	p.L104P	NCOR1_uc002gpn.2_Missense_Mutation_p.L104P|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.L104P|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.L104P|NCOR1_uc010cpa.1_Missense_Mutation_p.L104P|NCOR1_uc002gpu.2_Missense_Mutation_p.L104P	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	104	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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTCGATTCCAGTGAATCATG	0.468													G	16075241	A	G	16075241	3	3	166	1	0	0	0	0	1	0	0	0	10235	188	7	3	7183	3	NCOR1	17	16075241	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	5714430	16075241	65119969	1063	91605											
LLGL1	3996	broad.mit.edu	37	chr17	18140801	18140801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgggctcaggtgctgGtactggagcttagtgatgtg	18	6	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:18140801G>A	uc002gsp.2	+	14	1679	c.1618G>A	c.(1618-1620)GTA>ATA	p.V540I		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	540	WD 9.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TCAGGTGCTGGTACTGGAGCT	0.682													A	18140801	G	A	18140801	3	1	166	1	0	0	0	0	1	0	0	0	8833	1261	44	4	1672	4	LLGL1	17	18140801	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2065560	18140801	63054409	1064	91606											
SLC5A10	125206	broad.mit.edu	37	chr17	18880290	18880290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggcatgatcagccgcGcattgttcccaggtaggacg	14	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:18880290G>A	uc002guu.1	+	9	1011	c.970G>A	c.(970-972)GCA>ACA	p.A324T	SLC5A10_uc002gur.1_Missense_Mutation_p.A241T|SLC5A10_uc002gut.1_Missense_Mutation_p.A324T|SLC5A10_uc002guv.1_Missense_Mutation_p.A297T|SLC5A10_uc010vyl.1_Missense_Mutation_p.A324T|FAM83G_uc002guw.2_Intron	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	324	Extracellular (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						GATCAGCCGCGCATTGTTCCC	0.632													A	18880290	G	A	18880290	3	1	166	1	0	0	0	0	1	0	0	0	14662	1087	38	1	1004	1	SLC5A10	17	18880290	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	739489	18880290	62314920	1065	91607											
SLC47A1	55244	broad.mit.edu	37	chr17	19458976	19458977	+	Frame_Shift_Ins	INS	-	-	A													ctttctctacatcctcgggaINSaaaaactgcatcaagctaca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:19458975_19458976G>GA	uc002gvx.3	+	7	797_798	c.711_712G>GA	c.(709-714)gggaaafs	p.G237fs	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Frame_Shift_Ins_p.G237fs|SLC47A1_uc010vyz.1_Frame_Shift_Ins_p.G214fs|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Intron|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_5'UTR|SLC47A1_uc010vzc.1_5'Flank|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	237						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)					ACATCCTCGGGAAAAAACTGCA	0.51													A	19458977	-	A	19458976	7	5	166	1	0	1	1	0	0	0	0	0	14647	247	9	0	742	0	SLC47A1	17	19458976	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	578686	19458976	61736234	1066	91608											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-													ctctcaccttggccgggctcGgggggtatctgaccttcagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:19641648_19641648CG>C	uc002gwk.3	-	7	1949	c.1686_1686CG>G	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					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)	TGGCCGGGCTCGGGGGGTATC	0.627													-	19641649	G	-	19641649	7	5	166	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	182673	19641649	61553561	1067	91609											
ULK2	9706	broad.mit.edu	37	chr17	19685239	19685239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgatctggtccaccaCcacactctcctggatctggt	8	15	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:19685239C>T	uc002gwm.3	-	23	3111	c.2602G>A	c.(2602-2604)GTG>ATG	p.V868M	ULK2_uc002gwn.2_Missense_Mutation_p.V868M	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	868					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGGTCCACCACCACACTCTCC	0.517													T	19685239	C	T	19685239	3	4	166	1	0	0	0	0	1	0	0	0	16973	507	18	4	528	4	ULK2	17	19685239	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	43590	19685239	61509971	1068	91610											
ULK2	9706	broad.mit.edu	37	chr17	19687070	19687071	+	Frame_Shift_Ins	INS	-	-	G													tgatgagcccctctaggctgINSgggggtgaagcaccgtaagg					rs147422998	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:19687069_19687070T>TG	uc002gwm.4	-	21	2909_2910	c.2400_2401A>CA	c.(2398-2403)cccagcfs	p.P800fs	ULK2_uc002gwn.3_Frame_Shift_Ins_p.P800fs	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	800					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)					CCCTCTAGGCTGGGGGGTGAAG	0.584													G	19687071	-	G	19687070	7	5	166	1	0	1	1	0	0	0	0	0	16973	1335	47	0	734	0	ULK2	17	19687070	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1831	19687070	61508140	1069	91611											
LGALS9B	284194	broad.mit.edu	37	chr17	20354922	20354922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggggttcatgtggaaggCgatgtggctcccagagcaca	16	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:20354922C>T	uc002gxa.1	-	10	861	c.796G>A	c.(796-798)GCC>ACC	p.A266T	LGALS9B_uc002gwz.1_Missense_Mutation_p.A265T|LGALS9B_uc010vzh.1_Missense_Mutation_p.A178T	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	266	Galectin 2.						sugar binding			skin(1)	1						ATGTGGAAGGCGATGTGGCTC	0.552													T	20354922	C	T	20354922	3	4	166	1	0	0	0	0	1	0	0	0	8749	768	27	1	282	1	LGALS9B	17	20354922	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	667852	20354922	60840288	1070	91612											
LGALS9B	284194	broad.mit.edu	37	chr17	20356361	20356361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagaggcgctctgcaccGtgtggatgactgtctgggtc	15	11	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:20356361G>A	uc002gxa.1	-	7	661	c.596C>T	c.(595-597)ACG>ATG	p.T199M	LGALS9B_uc002gwz.1_Missense_Mutation_p.T199M|LGALS9B_uc010vzh.1_Missense_Mutation_p.T111M	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	199							sugar binding			skin(1)	1						GCTCTGCACCGTGTGGATGAC	0.547													A	20356361	G	A	20356361	3	1	166	1	0	0	0	0	1	0	0	0	8749	1145	40	1	491	1	LGALS9B	17	20356361	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1439	20356361	60838849	1071	91613											
KIAA0100	9703	broad.mit.edu	37	chr17	26960634	26960634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccatggaacagaagaCggctcttgtcccaccagggc	11	13	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:26960634C>T	uc002hbu.2	-	18	3497	c.3398G>A	c.(3397-3399)CGT>CAT	p.R1133H		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1133						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GAACAGAAGACGGCTCTTGTC	0.562													T	26960634	C	T	26960634	3	4	166	1	0	0	0	0	1	0	0	0	8154	536	19	1	3397	1	KIAA0100	17	26960634	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	6604273	26960634	54234576	1072	91614											
KIAA0100	9703	broad.mit.edu	37	chr17	26961600	26961600	+	Frame_Shift_Del	DEL	G	G	-													tgacaagatctaatccctcaGggggaaaagggctgcctgga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:26961600delG	uc002hbu.2	-	16	3104	c.3005delC	c.(3004-3006)CCTfs	p.P1002fs		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1002						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TAATCCCTCAGGGGGAAAAGG	0.502													-	26961600	G	-	26961600	7	5	166	1	0	1	0	1	0	0	0	0	8154	1000	35	0	3798	0	KIAA0100	17	26961600	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	966	26961600	54233610	1073	91615											
TP53I13	90313	broad.mit.edu	37	chr17	27899562	27899562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccggggccccaccccaCgcactgaagaggccgcctgg	13	19	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:27899562C>T	uc002hee.2	+	6	954	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	306	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		CCCCACCCCACGCACTGAAGA	0.701													T	27899562	C	T	27899562	3	4	166	1	0	0	0	0	1	0	0	0	16383	536	19	1	938	1	TP53I13	17	27899562	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	937962	27899562	53295648	1074	91616											
NLE1	54475	broad.mit.edu	37	chr17	33464048	33464048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccagactttgatggtgCggtcctgggaggcagagtag	15	9	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:33464048C>T	uc002hiy.1	-	7	828	c.800G>A	c.(799-801)CGC>CAC	p.R267H	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	267	WD 4.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				TTTGATGGTGCGGTCCTGGGA	0.592													T	33464048	C	T	33464048	3	4	166	1	0	0	0	0	1	0	0	0	10460	768	27	1	685	1	NLE1	17	33464048	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	5564486	33464048	47731162	1075	91617											
AP2B1	163	broad.mit.edu	37	chr17	33963434	33963434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatgtggtccaagaagcAattgttgtcatcagggacat	10	6	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:33963434A>G	uc002hjr.2	+	10	1419	c.1230A>G	c.(1228-1230)GCA>GCG	p.A410A	AP2B1_uc002hjq.2_Silent_p.A410A|AP2B1_uc010wci.1_Silent_p.A372A|AP2B1_uc002hjs.2_Silent_p.A353A|AP2B1_uc002hjt.2_Silent_p.A410A|AP2B1_uc010ctv.2_Silent_p.A410A|AP2B1_uc010wcj.1_Silent_p.A147A	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	410					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			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCCAAGAAGCAATTGTTGTCA	0.398													G	33963434	A	G	33963434	2	3	166	1	0	0	0	0	0	0	0	1	741	117	5	3		3	AP2B1	17	33963434	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	499386	33963434	47231776	1076	91618											
TAF15	8148	broad.mit.edu	37	chr17	34171771	34171771	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggctatggaggagacCgaggtggaggctatggtgga	21	4	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:34171771C>T	uc002hkd.2	+	15	1554	c.1468C>T	c.(1468-1470)CGA>TGA	p.R490*	TAF15_uc002hkc.2_Nonsense_Mutation_p.R487*	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	490	Arg/Gly-rich.|11.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		tggaggagaccgaggtggagg	0			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								T	34171771	C	T	34171771	4	4	166	1	0	0	0	0	0	1	0	0	15515	644	23	1	1526	1	TAF15	17	34171771	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	208337	34171771	47023439	1077	91619											
MRM1	79922	broad.mit.edu	37	chr17	34964141	34964141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggctcgtggccggcacGgtgggctgcccaagcacaga	17	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:34964141G>A	uc002hne.2	+	3	887	c.672G>A	c.(670-672)ACG>ACA	p.T224T	MRM1_uc002hnf.2_Silent_p.T29T	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	224					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGCCGGCACGGTGGGCTGCC	0.478													A	34964141	G	A	34964141	2	1	166	1	0	0	0	0	0	0	0	1	9771	1103	39	1		1	MRM1	17	34964141	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	792370	34964141	46231069	1078	91620											
CACNB1	782	broad.mit.edu	37	chr17	37343783	37343783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgatggccactccctgCacaggcacctcatcccctgg	10	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:37343783C>T	uc002hrm.1	-	4	516	c.363G>A	c.(361-363)GTG>GTA	p.V121V	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Silent_p.V121V|CACNB1_uc002hro.2_Silent_p.V121V|CACNB1_uc002hrp.1_Silent_p.V121V|CACNB1_uc010web.1_Silent_p.V74V	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	121	SH3.				axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCACTCCCTGCACAGGCACCT	0.488													T	37343783	C	T	37343783	2	4	166	1	0	0	0	0	0	0	0	1	2552	697	25	2		2	CACNB1	17	37343783	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2379642	37343783	43851427	1079	91621											
PNMT	5409	broad.mit.edu	37	chr17	37826239	37826239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggagcgccagctgcgagCcagggtgaaacgggtcctgc	16	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:37826239C>T	uc002hsi.1	+	3	668	c.446C>T	c.(445-447)GCC>GTC	p.A149V		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	149					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|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;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGCTGCGAGCCAGGGTGAAA	0.662													T	37826239	C	T	37826239	3	4	166	1	0	0	0	0	1	0	0	0	12159	739	26	2	456	2	PNMT	17	37826239	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	482456	37826239	43368971	1080	91622											
RARA	5914	broad.mit.edu	37	chr17	38487554	38487554	+	Frame_Shift_Del	DEL	C	C	-													cctccctacgccttcttcttCccccctatgctgggtggact							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:38487553_38487553TC>T	uc021txb.1	+	0	445	c.83_83TC>T	c.(82-84)ttcfs	p.F28fs	RARA_uc002huk.2_Frame_Shift_Del_p.F28fs|RARA_uc002hul.4_Frame_Shift_Del_p.F28fs|RARA_uc010wfe.2_Frame_Shift_Del_p.F28fs	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	28	Modulating.				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 T-helper 2 cell differentiation|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 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)	GCCTTCTTCTTCCCCCCTATG	0.632			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL								-	38487554	C	-	38487554	7	5	166	1	0	1	0	1	0	0	0	0	13052	854	30	0	86	0	RARA	17	38487554	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	661315	38487554	42707656	1081	91623											
KRT20	54474	broad.mit.edu	37	chr17	39034577	39034577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctaactggctgctgtaaCgggccttggtctcctctaga	12	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:39034577C>T	uc002hvl.2	-	6	1001	c.959G>A	c.(958-960)CGT>CAT	p.R320H		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	320	Rod.|Coil 2.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGCTGTAACGGGCCTTGGT	0.488													T	39034577	C	T	39034577	3	4	166	1	0	0	0	0	1	0	0	0	8458	536	19	1	327	1	KRT20	17	39034577	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	547023	39034577	42160633	1082	91624											
HAP1	9001	broad.mit.edu	37	chr17	39888591	39888592	+	Frame_Shift_Del	DEL	CT	CT	-													gagctgcagtgttcaggtccCtctctctctgcaggaccatc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:39888590_39888591CCT>C	uc002hxm.1	-	2	617_618	c.605_606AGG>G	c.(604-606)aggfs	p.R202fs	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Frame_Shift_Del_p.R202fs|HAP1_uc002hxo.1_Frame_Shift_Del_p.R210fs|HAP1_uc002hxp.1_Frame_Shift_Del_p.R202fs	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	202	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTTCAGGTCCCTCTCTCTCTG	0.589													-	39888592	CT	-	39888591	7	5	166	1	0	1	0	1	0	0	0	0	6953	681	24	0	1290	0	HAP1	17	39888591	Frame_Shift_Del	DEL	CT	TCGA-CG-4306-01A-01D-1158-08	854014	39888591	41306619	1083	91625											
CNTNAP1	8506	broad.mit.edu	37	chr17	40836173	40836173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttaattcttgggactggGtcacacgttacatgctactc	8	11	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:40836173G>A	uc002iay.2	+	3	505	c.289G>A	c.(289-291)GTC>ATC	p.V97I	CCR10_uc002iax.3_5'Flank|CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	97	Extracellular (Potential).|F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTGGGACTGGGTCACACGTTA	0.577													A	40836173	G	A	40836173	3	1	166	1	0	0	0	0	1	0	0	0	3646	1261	44	4	299	4	CNTNAP1	17	40836173	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	947582	40836173	40359037	1084	91626											
AOC3	8639	broad.mit.edu	37	chr17	41004674	41004674	+	Frame_Shift_Del	DEL	C	C	-													tttgaacagaaccagggcctCcccctgcggcgacaccactc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:41004673_41004673TC>T	uc002ibv.3	+	0	1473	c.1313_1313TC>T	c.(1312-1314)ctcfs	p.L438fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	438					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AACCAGGGCCTCCCCCTGCGG	0.552													-	41004674	C	-	41004674	7	5	166	1	0	1	0	1	0	0	0	0	728	842	30	0	1316	0	AOC3	17	41004674	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	168501	41004674	40190536	1085	91627											
BRCA1	672	broad.mit.edu	37	chr17	41244466	41244466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttctctaatgttattacGgctaattgtgctcactgtac	6	8	2	0	rs80357049		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:41244466G>A	uc002icq.2	-	10	3314	c.3082C>T	c.(3082-3084)CGT>TGT	p.R1028C	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R957C|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R981C|BRCA1_uc002ict.2_Missense_Mutation_p.R1028C|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R1028C|BRCA1_uc002ide.1_Missense_Mutation_p.R859C|BRCA1_uc010cyy.1_Missense_Mutation_p.R1028C|BRCA1_uc010whs.1_Missense_Mutation_p.R1028C|BRCA1_uc010cyz.2_Missense_Mutation_p.R981C|BRCA1_uc010cza.2_Missense_Mutation_p.R1002C|BRCA1_uc010wht.1_Missense_Mutation_p.R732C	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1028					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGTTATTACGGCTAATTGTG	0.348			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41244466	G	A	41244466	3	1	166	1	0	0	0	0	1	0	0	0	1498	1116	39	1	2635	1	BRCA1	17	41244466	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	239792	41244466	39950744	1086	91628											
MPP2	4355	broad.mit.edu	37	chr17	41958160	41958160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcagtaccagggttttcCggcggaacgggggcatgcgg	16	10	1	0	rs149942811		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:41958160C>T	uc010wip.1	-	10	1241	c.1184G>A	c.(1183-1185)CGG>CAG	p.R395Q	MPP2_uc002ien.1_Missense_Mutation_p.R367Q|MPP2_uc010wim.1_Missense_Mutation_p.R339Q|MPP2_uc002ieo.1_Missense_Mutation_p.R350Q|MPP2_uc010win.1_Missense_Mutation_p.R211Q|MPP2_uc010wio.1_Missense_Mutation_p.R339Q	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	374	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGGGTTTTCCGGCGGAACGG	0.617											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	41958160	C	T	41958160	3	4	166	1	0	0	0	0	1	0	0	0	9734	652	23	1	625	1	MPP2	17	41958160	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	713694	41958160	39237050	1087	91629											
SLC4A1	6521	broad.mit.edu	37	chr17	42330716	42330716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagcccttgaccatcttgCgctcaggtttgctgacaatc	10	13	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:42330716C>T	uc002igf.3	-	17	2230	c.2081G>A	c.(2080-2082)CGC>CAC	p.R694H		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	694	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			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACCATCTTGCGCTCAGGTTT	0.622													T	42330716	C	T	42330716	3	4	166	1	0	0	0	0	1	0	0	0	14650	768	27	1	670	1	SLC4A1	17	42330716	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	372556	42330716	38864494	1088	91630											
FZD2	2535	broad.mit.edu	37	chr17	42636530	42636530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccgcgagcactgggagCgctcgtgggtgagccagcac	15	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:42636530C>T	uc002igx.1	+	1	1606	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	492	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCACTGGGAGCGCTCGTGGGT	0.627													T	42636530	C	T	42636530	3	4	166	1	0	0	0	0	1	0	0	0	6130	768	27	1	1476	1	FZD2	17	42636530	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	305814	42636530	38558680	1089	91631											
ADAM11	4185	broad.mit.edu	37	chr17	42837126	42837126	+	Frame_Shift_Del	DEL	G	G	-													tcctgctggagctctgcgatGggggggcttaccccagctgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:42837125_42837125TG>T	uc002ihh.3	+	1	97	c.97_97TG>T	c.(97-99)tggfs	p.W33fs	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	33					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCTCTGCGATGGGGGGGCTT	0.662													-	42837126	G	-	42837126	7	5	166	1	0	1	0	1	0	0	0	0	235	1357	47	0	104	0	ADAM11	17	42837126	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	200596	42837126	38358084	1090	91632											
C1QL1	10882	broad.mit.edu	37	chr17	43037677	43037677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggtgcaggatcacgCtgttgctggcgtagtcgtag	15	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:43037677C>T	uc002ihv.2	-	2	884	c.656G>A	c.(655-657)AGC>AAC	p.S219N		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	219	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				CAGGATCACGCTGTTGCTGGC	0.542													T	43037677	C	T	43037677	3	4	166	1	0	0	0	0	1	0	0	0	1958	797	28	2	124	2	C1QL1	17	43037677	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	200551	43037677	38157533	1091	91633											
PLCD3	113026	broad.mit.edu	37	chr17	43196290	43196290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaggggcactcagcaCgcggtcctcgcccgagtact	12	16	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:43196290C>T	uc002iib.2	-	5	919	c.805G>A	c.(805-807)GTG>ATG	p.V269M		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	269	EF-hand 3.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	GCACTCAGCACGCGGTCCTCG	0.657													T	43196290	C	T	43196290	3	4	166	1	0	0	0	0	1	0	0	0	12032	536	19	1	1607	1	PLCD3	17	43196290	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	158613	43196290	37998920	1092	91634											
ARHGAP27	201176	broad.mit.edu	37	chr17	43474387	43474387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgggggcagctctgCggactggattcccatagcct	12	14	2	0	rs147050844		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:43474387C>T	uc002iix.2	-	11	1272	c.823G>A	c.(823-825)GCA>ACA	p.A275T	ARHGAP27_uc010dak.2_Missense_Mutation_p.A248T	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	616					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					GGCAGCTCTGCGGACTGGATT	0.642													T	43474387	C	T	43474387	3	4	166	1	0	0	0	0	1	0	0	0	876	768	27	1	851	1	ARHGAP27	17	43474387	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	278097	43474387	37720823	1093	91635											
ITGB3	3690	broad.mit.edu	37	chr17	45369918	45369918	+	Frame_Shift_Del	DEL	G	G	-													ttctcctgtgtccgctacaaGggggagatgtgctcaggtga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:45369917_45369917AG>A	uc002ilj.3	+	9	1693	c.1673_1673AG>A	c.(1672-1674)aagfs	p.K558fs	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	558	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GTCCGCTACAAGGGGGAGATG	0.572													-	45369918	G	-	45369918	7	5	166	1	0	1	0	1	0	0	0	0	7895	991	35	0	1712	0	ITGB3	17	45369918	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	1895531	45369918	35825292	1094	91636											
HOXB4	3214	broad.mit.edu	37	chr17	46654330	46654330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccaagacctgctggcgCgtgtaggcggtccgagagcg	16	12	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:46654330C>T	uc002inp.2	-	2	572	c.510G>A	c.(508-510)ACG>ACA	p.T170T	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	170	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCTGCTGGCGCGTGTAGGCGG	0.617													T	46654330	C	T	46654330	2	4	166	1	0	0	0	0	0	0	0	1	7303	755	27	1		1	HOXB4	17	46654330	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1284412	46654330	34540880	1095	91637											
SPOP	8405	broad.mit.edu	37	chr17	47696653	47696653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagaatttgaattttgcccGaacttcactctttggacagc	9	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:47696653G>A	uc010dbk.2	-	5	927	c.295C>T	c.(295-297)CGG>TGG	p.R99W	SPOP_uc002ipb.2_Missense_Mutation_p.R99W|SPOP_uc002ipc.2_Missense_Mutation_p.R99W|SPOP_uc002ipd.2_Missense_Mutation_p.R99W|SPOP_uc002ipe.2_Missense_Mutation_p.R99W|SPOP_uc002ipf.2_Missense_Mutation_p.R99W|SPOP_uc002ipg.2_Missense_Mutation_p.R99W	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	99	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						AATTTTGCCCGAACTTCACTC	0.423										Prostate(2;0.17)			A	47696653	G	A	47696653	3	1	166	1	0	0	0	0	1	0	0	0	15083	1057	37	1	857	1	SPOP	17	47696653	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1042323	47696653	33498557	1096	91638											
SPOP	8405	broad.mit.edu	37	chr17	47700149	47700149	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacatttctgccggaggTggaggacttggaacccttga	13	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:47700149T>C	uc010dbk.2	-	3	656	c.24A>G	c.(22-24)CCA>CCG	p.P8P	SPOP_uc002ipb.2_Silent_p.P8P|SPOP_uc002ipc.2_Silent_p.P8P|SPOP_uc002ipd.2_Silent_p.P8P|SPOP_uc002ipe.2_Silent_p.P8P|SPOP_uc002ipf.2_Silent_p.P8P|SPOP_uc002ipg.2_Silent_p.P8P|SPOP_uc010wlx.1_RNA	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	8					mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						CTGCCGGAGGTGGAGGACTTG	0.502										Prostate(2;0.17)			C	47700149	T	C	47700149	2	2	166	1	0	0	0	0	0	0	0	1	15083	1683	59	3		3	SPOP	17	47700149	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	3496	47700149	33495061	1097	91639											
SPATA20	64847	broad.mit.edu	37	chr17	48627597	48627597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctactccacagaccgccAgtggcacgtccctcactttg	8	18	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:48627597A>G	uc002irf.2	+	8	1115	c.974A>G	c.(973-975)CAG>CGG	p.Q325R	SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.Q281R|SPATA20_uc002ird.2_Missense_Mutation_p.Q341R|SPATA20_uc010wmv.1_Missense_Mutation_p.S382G|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	325					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACAGACCGCCAGTGGCACGTC	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	48627597	A	G	48627597	3	3	166	1	0	0	0	0	1	0	0	0	15005	188	7	3	1056	3	SPATA20	17	48627597	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	927448	48627597	32567613	1098	91640											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917620	48917620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaatggcacggctttccCggcggccgagtgcctgaagc	13	16	0	1	rs141860715	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:48917620C>T	uc002isv.3	+	2	1665	c.971C>T	c.(970-972)CCG>CTG	p.P324L	WFIKKN2_uc010dbu.2_Missense_Mutation_p.P231L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	324						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACGGCTTTCCCGGCGGCCGAG	0.647													T	48917620	C	T	48917620	3	4	166	1	0	0	0	0	1	0	0	0	17356	652	23	1	977	1	WFIKKN2	17	48917620	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	290023	48917620	32277590	1099	91641											
SPAG9	9043	broad.mit.edu	37	chr17	49067155	49067155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcttcagctgaccccGcattcccttctgtagcttca	7	15	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:49067155G>A	uc002itc.2	-	21	2905	c.2696C>T	c.(2695-2697)GCG>GTG	p.A899V	SPAG9_uc002itb.2_Missense_Mutation_p.A885V|SPAG9_uc002itd.2_Missense_Mutation_p.A889V|SPAG9_uc002itf.2_Missense_Mutation_p.A720V|SPAG9_uc002ita.2_Missense_Mutation_p.A742V|SPAG9_uc002ite.2_Missense_Mutation_p.A729V	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	899					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGCTGACCCCGCATTCCCTTC	0.443													A	49067155	G	A	49067155	3	1	166	1	0	0	0	0	1	0	0	0	14985	1087	38	1	1309	1	SPAG9	17	49067155	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	149535	49067155	32128055	1100	91642											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	166	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	7368006	56435161	24760049	1101	91643											
C17orf71	55181	broad.mit.edu	37	chr17	57288418	57288418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgccaaccaagctttcGtgtacatagtaccgggaagc	10	12	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:57288418G>A	uc002ixi.2	+	1	1048	c.1006G>A	c.(1006-1008)GTG>ATG	p.V336M		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CCAAGCTTTCGTGTACATAGT	0.502													A	57288418	G	A	57288418	3	1	166	1	0	0	0	0	1	0	0	0	1878	1145	40	1	1008	1	C17orf71	17	57288418	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	853257	57288418	23906792	1102	91644											
RPS6KB1	6198	broad.mit.edu	37	chr17	57970683	57970683	+	Frame_Shift_Del	DEL	G	G	-													tctgaggatgagctggaggaGggggtgaggcccggggtccc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:57970683delG	uc002ixy.2	+	1	241	c.138delG	c.(136-138)GAGfs	p.E46fs	TUBD1_uc010ddf.1_5'Flank|TUBD1_uc002ixw.1_5'Flank|TUBD1_uc010ddg.1_5'Flank|TUBD1_uc010ddh.1_5'Flank|TUBD1_uc010wok.1_5'Flank|TUBD1_uc002ixx.1_5'Flank|TUBD1_uc010wol.1_5'Flank|TUBD1_uc010ddi.1_5'Flank|RPS6KB1_uc010ddj.1_Frame_Shift_Del_p.E46fs|RPS6KB1_uc010wom.1_5'UTR|RPS6KB1_uc010won.1_Frame_Shift_Del_p.E46fs	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	46					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|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	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)			AGCTGGAGGAGGGGGTGAGGC	0.592													-	57970683	G	-	57970683	7	5	166	1	0	1	0	1	0	0	0	0	13656	991	35	0	140	0	RPS6KB1	17	57970683	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	682265	57970683	23224527	1103	91645											
HEATR6	63897	broad.mit.edu	37	chr17	58121371	58121371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatactggtcaacagacccGtactgctctctcttccccgg	8	16	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:58121371G>A	uc002iyk.1	-	20	3116	c.3099C>T	c.(3097-3099)TAC>TAT	p.Y1033Y	HEATR6_uc010ddk.1_Silent_p.Y572Y|HEATR6_uc010wos.1_Silent_p.Y753Y	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1033							binding			ovary(1)|skin(1)	2	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)			CAACAGACCCGTACTGCTCTC	0.498													A	58121371	G	A	58121371	2	1	166	1	0	0	0	0	0	0	0	1	7033	1140	40	1		1	HEATR6	17	58121371	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	150688	58121371	23073839	1104	91646											
SCN4A	6329	broad.mit.edu	37	chr17	62036661	62036661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacagacagtccctgtacGttggccaggcctagctctac	10	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:62036661G>A	uc002jds.1	-	12	2060	c.1983C>T	c.(1981-1983)AAC>AAT	p.N661N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	661	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GTCCCTGTACGTTGGCCAGGC	0.587													A	62036661	G	A	62036661	2	1	166	1	0	0	0	0	0	0	0	1	13920	1136	40	1		1	SCN4A	17	62036661	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3915290	62036661	19158549	1105	91647											
NOL11	25926	broad.mit.edu	37	chr17	65720282	65720282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttactgcatctgtagatCggaaattcatctctttgatg	8	7	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:65720282C>T	uc002jgd.1	+	6	640	c.637C>T	c.(637-639)CGG>TGG	p.R213W	NOL11_uc010wql.1_Missense_Mutation_p.R31W|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	213						nucleolus					0	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)			ATCTGTAGATCGGAAATTCAT	0.299													T	65720282	C	T	65720282	3	4	166	1	0	0	0	0	1	0	0	0	10521	875	31	1	659	1	NOL11	17	65720282	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3683621	65720282	15474928	1106	91648											
ABCA9	10350	broad.mit.edu	37	chr17	66982438	66982438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaggaagcccaggggttCccctccaccgctccctttca	8	20	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:66982438C>T	uc002jhu.2	-	32	4218	c.4075G>A	c.(4075-4077)GAA>AAA	p.E1359K	ABCA9_uc010dez.2_Missense_Mutation_p.E1321K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1359	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CCCAGGGGTTCCCCTCCACCG	0.507													T	66982438	C	T	66982438	3	4	166	1	0	0	0	0	1	0	0	0	39	864	30	4	831	4	ABCA9	17	66982438	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1262156	66982438	14212772	1107	91649											
SSTR2	6752	broad.mit.edu	37	chr17	71166486	71166486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggggagcggagtgacaGtaagcaggacaaatcccggc	16	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:71166486G>A	uc002jje.2	+	2	1388	c.1028G>A	c.(1027-1029)AGT>AAT	p.S343N		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	343	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			CGGAGTGACAGTAAGCAGGAC	0.532													A	71166486	G	A	71166486	3	1	166	1	0	0	0	0	1	0	0	0	15197	1029	36	4	1030	4	SSTR2	17	71166486	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4184048	71166486	10028724	1108	91650											
SLC16A5	9121	broad.mit.edu	37	chr17	73096287	73096287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccttccttgtcttcggcGggatctttctccactgctgc	9	14	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73096287G>A	uc002jmr.2	+	5	901	c.529G>A	c.(529-531)GGG>AGG	p.G177R	SLC16A5_uc002jms.1_Missense_Mutation_p.G177R|SLC16A5_uc002jmt.2_Missense_Mutation_p.G177R|SLC16A5_uc002jmu.2_Missense_Mutation_p.G177R|SLC16A5_uc010wrt.1_Missense_Mutation_p.G217R	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	177	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGTCTTCGGCGGGATCTTTCT	0.642													A	73096287	G	A	73096287	3	1	166	1	0	0	0	0	1	0	0	0	14411	1116	39	1	539	1	SLC16A5	17	73096287	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1929801	73096287	8098923	1109	91651											
NUP85	79902	broad.mit.edu	37	chr17	73230741	73230741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgccataggaaagtatcGcgagttccaccgtatgtacg	10	10	0	0	rs147921665		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73230741G>A	uc002jng.1	+	17	1885	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	NUP85_uc010dgd.1_Missense_Mutation_p.R497H|NUP85_uc010wrv.1_Missense_Mutation_p.R496H|NUP85_uc002jnh.1_Missense_Mutation_p.R145H	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	542					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			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GGAAAGTATCGCGAGTTCCAC	0.522													A	73230741	G	A	73230741	3	1	166	1	0	0	0	0	1	0	0	0	10770	1087	38	1	1691	1	NUP85	17	73230741	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	134454	73230741	7964469	1110	91652											
LLGL2	3993	broad.mit.edu	37	chr17	73539557	73539557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcgggagaggctcaAgcgggacctgttccagttta	14	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73539557A>G	uc002joh.2	+	2	204	c.50A>G	c.(49-51)AAG>AGG	p.K17R	LLGL2_uc002jog.1_Missense_Mutation_p.K17R|LLGL2_uc010dgf.1_Missense_Mutation_p.K17R|LLGL2_uc002joi.2_Missense_Mutation_p.K17R|LLGL2_uc010dgg.1_Missense_Mutation_p.K17R	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	17					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	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)			GAGAGGCTCAAGCGGGACCTG	0.393													G	73539557	A	G	73539557	3	3	166	1	0	0	0	0	1	0	0	0	8834	72	3	3	52	3	LLGL2	17	73539557	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	308816	73539557	7655653	1111	91653											
ITGB4	3691	broad.mit.edu	37	chr17	73723340	73723340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgtggataaggactgcGcctactgcacagacgaggtg	14	10	0	1	rs146966502		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73723340G>A	uc002jpg.2	+	3	332	c.145G>A	c.(145-147)GCC>ACC	p.A49T	ITGB4_uc002jph.2_Missense_Mutation_p.A49T|ITGB4_uc010dgo.2_Missense_Mutation_p.A49T|ITGB4_uc002jpi.3_Missense_Mutation_p.A49T|ITGB4_uc010dgp.1_Missense_Mutation_p.A49T|ITGB4_uc002jpj.2_Missense_Mutation_p.A49T	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	49	PSI.|Extracellular (Potential).				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			lung(4)	4	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)			TAAGGACTGCGCCTACTGCAC	0.602													A	73723340	G	A	73723340	3	1	166	1	0	0	0	0	1	0	0	0	7897	1087	38	1	151	1	ITGB4	17	73723340	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	183783	73723340	7471870	1112	91654											
JMJD6	23210	broad.mit.edu	37	chr17	74719969	74719969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaccaggtaatagcttcGtcttgctggttccctccttc	7	12	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:74719969G>A	uc002jso.2	-	3	1014	c.690C>T	c.(688-690)GAC>GAT	p.D230D	JMJD6_uc002jsn.1_Silent_p.D230D|JMJD6_uc010dgz.2_Silent_p.D230D|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	230	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						TAATAGCTTCGTCTTGCTGGT	0.502													A	74719969	G	A	74719969	2	1	166	1	0	0	0	0	0	0	0	1	7953	1136	40	1		1	JMJD6	17	74719969	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	996629	74719969	6475241	1113	91655											
SEC14L1	6397	broad.mit.edu	37	chr17	75196739	75196739	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattactacgcgggaggctgGcatcatcacgacaaaggtac	12	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:75196739G>A	uc002jto.2	+	9	1260	c.993G>A	c.(991-993)TGG>TGA	p.W331*	SEC14L1_uc010dhc.2_Nonsense_Mutation_p.W331*|SEC14L1_uc010wth.1_Nonsense_Mutation_p.W331*|SEC14L1_uc002jtm.2_Nonsense_Mutation_p.W331*|SEC14L1_uc010wti.1_Nonsense_Mutation_p.W297*	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	331	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						CGGGAGGCTGGCATCATCACG	0.498													A	75196739	G	A	75196739	4	1	166	1	0	0	0	0	0	1	0	0	13981	1212	42	2	1019	2	SEC14L1	17	75196739	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	476770	75196739	5998471	1114	91656											
DNAH17	8632	broad.mit.edu	37	chr17	76503643	76503643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccaggtggctccaggttCgctggacctcaaaccagatg	11	13	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:76503643C>T	uc010wtu.1	-	2	533	c.356G>A	c.(355-357)CGA>CAA	p.R119Q						full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTCGCTGGACCTC	0.592													T	76503643	C	T	76503643	3	4	166	1	0	0	0	0	1	0	0	0	4601	884	31	1	9123	1	DNAH17	17	76503643	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1306904	76503643	4691567	1115	91657											
CBX8	57332	broad.mit.edu	37	chr17	77770056	77770056	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagggtctgtacctttcctCaaaggctgcgagcaagcgag	13	10	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:77770056C>G	uc002jxd.1	-	3	265	c.172G>C	c.(172-174)GAG>CAG	p.E58Q		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	58	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TACCTTTCCTCAAAGGCTGCG	0.517													G	77770056	C	G	77770056	3	3	166	1	0	0	0	0	1	0	0	0	2724	837	29	5	984	5	CBX8	17	77770056	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1266413	77770056	3425154	1116	91658											
GAA	2548	broad.mit.edu	37	chr17	78090814	78090814	+	Frame_Shift_Del	DEL	G	G	-													tgtggaccaccagctcctgtGgggggaggccctgctcatca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:78090813_78090813TG>T	uc002jxp.3	+	15	2603	c.2236_2236TG>T	c.(2236-2238)tggfs	p.W746fs	GAA_uc002jxo.3_Frame_Shift_Del_p.W746fs|GAA_uc002jxq.3_Frame_Shift_Del_p.W746fs	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	746			W -> C (in dbSNP:rs1800312).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCAGCTCCTGTGGGGGGAGGC	0.637													-	78090814	G	-	78090814	7	5	166	1	0	1	0	1	0	0	0	0	6147	1357	47	0	2295	0	GAA	17	78090814	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	320758	78090814	3104396	1117	91659											
AZI1	22994	broad.mit.edu	37	chr17	79173615	79173615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccaagagggtcccctcGcctgaccgctgccgctgctc	12	17	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:79173615G>A	uc002jzp.1	-	9	1127	c.927C>T	c.(925-927)GGC>GGT	p.G309G	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Silent_p.G309G|AZI1_uc002jzo.1_Silent_p.G309G|AZI1_uc010wum.1_Silent_p.G309G	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	309					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGTCCCCTCGCCTGACCGCT	0.632													A	79173615	G	A	79173615	2	1	166	1	0	0	0	0	0	0	0	1	1240	1074	38	1		1	AZI1	17	79173615	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1082801	79173615	2021595	1118	91660											
TBCD	6904	broad.mit.edu	37	chr17	80863898	80863898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcagaagttgcttacGccttgtacaaacttgcagcc	9	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:80863898G>A	uc002kfz.2	+	20	2021	c.1891G>A	c.(1891-1893)GCC>ACC	p.A631T	TBCD_uc002kfx.1_Missense_Mutation_p.A614T|TBCD_uc002kfy.1_Missense_Mutation_p.A631T|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	631	HEAT 3.				'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				0	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)			AGTTGCTTACGCCTTGTACAA	0.547													A	80863898	G	A	80863898	3	1	166	1	0	0	0	0	1	0	0	0	15630	1087	38	1	1969	1	TBCD	17	80863898	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1690283	80863898	331312	1119	91661											
METRNL	284207	broad.mit.edu	37	chr17	81052065	81052065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggactcagccatccacctGcgcgtgagcagactctatcg	10	15	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:81052065G>A	uc002kgh.2	+	4	806	c.681G>A	c.(679-681)CTG>CTA	p.L227L	METRNL_uc002kgi.2_Silent_p.L145L	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation	227						extracellular region					0	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCATCCACCTGCGCGTGAGCA	0.652													A	81052065	G	A	81052065	2	1	166	1	0	0	0	0	0	0	0	1	9489	1306	46	2		2	METRNL	17	81052065	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	188167	81052065	143145	1120	91662											
PTPRM	5797	broad.mit.edu	37	chr18	8379271	8379271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacatcctgcccccagaccGctgcctgcccttcctcatca	7	20	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:8379271G>T	uc002knn.3	+	26	4183	c.3680G>T	c.(3679-3681)CGC>CTC	p.R1227L	PTPRM_uc010dkv.2_Missense_Mutation_p.R1240L|PTPRM_uc010wzl.1_Missense_Mutation_p.R1014L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1227	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CCCCCAGACCGCTGCCTGCCC	0.607													T	8379271	G	T	8379271	3	4	166	1	0	0	0	0	1	0	0	0	12806	1087	38	5	3829	5	PTPRM	18	8379271	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08		8379271	69697977	1121	91663											
PPP4R1	9989	broad.mit.edu	37	chr18	9593862	9593864	+	In_Frame_Del	DEL	CCA	CCA	-													ggtatcgagcaaactccgggCcaccatttgtctacacaaaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:9593861_9593863GCCA>G	uc002koe.1	-	3	316_318	c.198_200TGGC>C	c.(196-201)gtggcc>gtCc	p.A67del	PPP4R1_uc010wzo.1_In_Frame_Del_p.A24del|PPP4R1_uc002kod.1_In_Frame_Del_p.A50del|PPP4R1_uc010wzp.1_Intron	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	67					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						CAAACTCCGGGCCACCATTTGTC	0.379													-	9593864	CCA	-	9593862	7	5	166	1	0	1	0	1	0	0	0	0	12403	739	26	0	2721	0	PPP4R1	18	9593862	In_Frame_Del	DEL	CCA	TCGA-CG-4306-01A-01D-1158-08	1214591	9593862	68483386	1122	91664											
RIOK3	8780	broad.mit.edu	37	chr18	21056996	21056996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcagttatatcatgaatgTacgcttgtccatgctgacct	9	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:21056996T>C	uc002kui.3	+	10	1817	c.1200T>C	c.(1198-1200)TGT>TGC	p.C400C	RIOK3_uc010dls.2_Silent_p.C400C|RIOK3_uc010xas.1_Silent_p.C384C|RIOK3_uc010xat.1_Silent_p.C144C	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	400	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	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)					ATCATGAATGTACGCTTGTCC	0.393													C	21056996	T	C	21056996	2	2	166	1	0	0	0	0	0	0	0	1	13379	1644	57	3		3	RIOK3	18	21056996	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	11463134	21056996	57020252	1123	91665											
NPC1	4864	broad.mit.edu	37	chr18	21112182	21112182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctagaaatttagaagcCgttcgcgctctgttcctttg	11	9	1	2	rs151305963		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:21112182C>T	uc002kum.3	-	25	4095	c.3821G>A	c.(3820-3822)CGG>CAG	p.R1274Q	NPC1_uc010dlu.1_Intron|NPC1_uc010xaz.1_Missense_Mutation_p.R1007Q	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1274					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			ovary(2)	2	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)					ATTTAGAAGCCGTTCGCGCTC	0.498													T	21112182	C	T	21112182	3	4	166	1	0	0	0	0	1	0	0	0	10570	652	23	1	19	1	NPC1	18	21112182	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	55186	21112182	56965066	1124	91666											
KLHL14	57565	broad.mit.edu	37	chr18	30275442	30275442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccattcggattccactgGtcctctccacccaacacgaa	5	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:30275442G>A	uc002kxm.1	-	4	1531	c.1143C>T	c.(1141-1143)GAC>GAT	p.D381D	KLHL14_uc010dmd.1_5'UTR	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	381	Kelch 2.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GATTCCACTGGTCCTCTCCAC	0.408													A	30275442	G	A	30275442	2	1	166	1	0	0	0	0	0	0	0	1	8370	1252	44	4		4	KLHL14	18	30275442	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	9163260	30275442	47801806	1125	91667											
ASXL3	80816	broad.mit.edu	37	chr18	31323088	31323088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatgggaagtccaggagaGggtggaaagacgagaactct	16	7	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:31323088G>T	uc010dmg.1	+	12	3331	c.3276G>T	c.(3274-3276)GAG>GAT	p.E1092D	ASXL3_uc002kxq.2_Missense_Mutation_p.E799D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1092					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GTCCAGGAGAGGGTGGAAAGA	0.577													T	31323088	G	T	31323088	3	4	166	1	0	0	0	0	1	0	0	0	1068	991	35	5	3322	5	ASXL3	18	31323088	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1047646	31323088	46754160	1126	91668											
ELP2	55250	broad.mit.edu	37	chr18	33736541	33736541	+	Frame_Shift_Del	DEL	T	T	-													agatgaaaaagttcttcgggTtttttctgcacctcggaatt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:33736540_33736540GT>G	uc010xcg.2	+	13	1642	c.1582_1582GT>G	c.(1582-1584)gttfs	p.V528fs	ELP2_uc002kzk.2_Frame_Shift_Del_p.V463fs|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Frame_Shift_Del_p.V437fs|ELP2_uc010xch.2_Frame_Shift_Del_p.V458fs|ELP2_uc002kzn.2_Frame_Shift_Del_p.V393fs|ELP2_uc002kzo.2_Frame_Shift_Del_p.V393fs	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	463					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.T528T(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AGTTCTTCGGGTTTTTTCTGC	0.368													-	33736541	T	-	33736541	7	5	166	1	0	1	0	1	0	0	0	0	5080	1725	60	0	1438	0	ELP2	18	33736541	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2413453	33736541	44340707	1127	91669											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				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)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	166	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	468975	34205516	43871732	1128	91670											
SLC14A2	8170	broad.mit.edu	37	chr18	43262376	43262376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccatctacaagctcccGctcagcaaagtcacctaccc	5	20	3	0	rs143610580		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:43262376G>A	uc010dnj.2	+	21	2976	c.2655G>A	c.(2653-2655)CCG>CCA	p.P885P	SLC14A2_uc002lbe.2_Silent_p.P885P	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	885						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P885P(1)		upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						ACAAGCTCCCGCTCAGCAAAG	0.542													A	43262376	G	A	43262376	2	1	166	1	0	0	0	0	0	0	0	1	14397	1074	38	1		1	SLC14A2	18	43262376	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	9056860	43262376	34814872	1129	91671											
KIAA1632	57724	broad.mit.edu	37	chr18	43446800	43446800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggaatagaaaggcccGcagacacttttaggagcttc	11	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:43446800G>A	uc002lbm.2	-	38	6684	c.6584C>T	c.(6583-6585)GCG>GTG	p.A2195V	KIAA1632_uc010xcq.1_Missense_Mutation_p.A749V|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.A1070V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2195					autophagy						0						AGAAAGGCCCGCAGACACTTT	0.448													A	43446800	G	A	43446800	3	1	166	1	0	0	0	0	1	0	0	0	8249	1087	38	1	1183	1	KIAA1632	18	43446800	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	184424	43446800	34630448	1130	91672											
TCEB3B	51224	broad.mit.edu	37	chr18	44561181	44561181	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggggcactttctctcagctCtgggctcgcgactgtgagac	13	12	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:44561181C>A	uc002lcr.1	-	1	808	c.455G>T	c.(454-456)AGA>ATA	p.R152I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	152					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TCTCTCAGCTCTGGGCTCGCG	0.657													A	44561181	C	A	44561181	3	1	166	1	0	0	0	0	1	0	0	0	15679	913	32	5	1810	5	TCEB3B	18	44561181	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1114381	44561181	33516067	1131	91673											
DYM	54808	broad.mit.edu	37	chr18	46860144	46860146	+	In_Frame_Del	DEL	CTT	CTT	-													gctgatgctctgtcgcaaaaCttctttgtggaagagttggc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:46860143_46860145ACTT>A	uc002ldi.1	-	6	938_940	c.573_575AAGT>T	c.(571-576)gaagtt>gaTt	p.191_192EV>D	DYM_uc010xdf.1_Intron|DYM_uc002ldj.3_In_Frame_Del_p.13_14EV>D	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	191						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CTGTCGCAAAACTTCTTTGTGGA	0.335													-	46860146	CTT	-	46860144	7	5	166	1	0	1	0	1	0	0	0	0	4840	565	20	0	1479	0	DYM	18	46860144	In_Frame_Del	DEL	CTT	TCGA-CG-4306-01A-01D-1158-08	2298963	46860144	31217104	1132	91674											
MYO5B	4645	broad.mit.edu	37	chr18	47390531	47390531	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgttcctgccggcgagtcGccgctggtcggcgctcacga	15	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:47390531G>A	uc002leb.2	-	28	4111	c.3823C>T	c.(3823-3825)CGA>TGA	p.R1275*	MYO5B_uc002lea.2_Nonsense_Mutation_p.R416*	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1275					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CCGGCGAGTCGCCGCTGGTCG	0.612													A	47390531	G	A	47390531	4	1	166	1	0	0	0	0	0	1	0	0	10079	1095	38	1	1775	1	MYO5B	18	47390531	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	530387	47390531	30686717	1133	91675											
CCDC11	220136	broad.mit.edu	37	chr18	47778135	47778135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagataacaattcaacacGgagctcctcacagcgttccc	7	13	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:47778135G>A	uc002lee.2	-	4	584	c.493C>T	c.(493-495)CGT>TGT	p.R165C		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	165										ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AATTCAACACGGAGCTCCTCA	0.453													A	47778135	G	A	47778135	3	1	166	1	0	0	0	0	1	0	0	0	2746	1116	39	1	1071	1	CCDC11	18	47778135	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	387604	47778135	30299113	1134	91676											
MBD1	4152	broad.mit.edu	37	chr18	47803053	47803053	+	Frame_Shift_Del	DEL	T	T	-													tcgacagtctttgcacaacgTtttgagccgctgcctttggg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:47803053delT	uc010dow.1	-	5	891	c.454delA	c.(454-456)ACGfs	p.T152fs	MBD1_uc002lef.2_5'UTR|MBD1_uc002leg.2_Frame_Shift_Del_p.T152fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.T178fs|MBD1_uc002leh.3_Frame_Shift_Del_p.T152fs|MBD1_uc002len.2_Frame_Shift_Del_p.T152fs|MBD1_uc002lei.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lej.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lek.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lel.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lem.3_Frame_Shift_Del_p.T152fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.T152fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.T152fs|MBD1_uc010dox.1_Frame_Shift_Del_p.T152fs|MBD1_uc002leo.2_Frame_Shift_Del_p.T152fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	152					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTGCACAACGTTTTGAGCCGC	0.582													-	47803053	T	-	47803053	7	5	166	1	0	1	0	1	0	0	0	0	9342	1725	60	0	1605	0	MBD1	18	47803053	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	24918	47803053	30274195	1135	91677											
ALPK2	115701	broad.mit.edu	37	chr18	56204716	56204716	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcaccttcactagcTgtgtgtgaaatgttcaaggt	11	9	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:56204716T>G	uc002lhj.3	-	5	2917	c.2703A>C	c.(2701-2703)ACA>ACC	p.T901T	ALPK2_uc002lhk.1_Silent_p.T232T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	901							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CTTCACTAGCTGTGTGTGAAA	0.512													G	56204716	T	G	56204716	2	3	166	1	0	0	0	0	0	0	0	1	545	1567	55	5		5	ALPK2	18	56204716	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	8401663	56204716	21872532	1136	91678											
CPLX4	339302	broad.mit.edu	37	chr18	56963955	56963955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggaacacttctgctccGctgtctgcttgatttcagtg	9	12	4	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:56963955G>A	uc002lhy.2	-	3	645	c.458C>T	c.(457-459)GCG>GTG	p.A153V		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	153					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				CTTCTGCTCCGCTGTCTGCTT	0.498													A	56963955	G	A	56963955	3	1	166	1	0	0	0	0	1	0	0	0	3807	1087	38	1	28	1	CPLX4	18	56963955	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	759239	56963955	21113293	1137	91679											
CDH20	28316	broad.mit.edu	37	chr18	59221671	59221671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgtgcctcagacgtgcGcagtgaacagcactgtccac	11	14	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:59221671G>A	uc010dps.1	+	11	2161	c.2149G>A	c.(2149-2151)GCA>ACA	p.A717T	CDH20_uc002lif.2_Missense_Mutation_p.A711T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	717	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TCAGACGTGCGCAGTGAACAG	0.662													A	59221671	G	A	59221671	3	1	166	1	0	0	0	0	1	0	0	0	3106	1087	38	1	2191	1	CDH20	18	59221671	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2257716	59221671	18855577	1138	91680											
PHLPP1	23239	broad.mit.edu	37	chr18	60646006	60646006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcctccgatgagccccCgcccggagccctaagcgaga	11	17	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:60646006C>T	uc002lis.2	+	18	3138	c.2960C>T	c.(2959-2961)CCG>CTG	p.P987L		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1499					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						GATGAGCCCCCGCCCGGAGCC	0.632													T	60646006	C	T	60646006	3	4	166	1	0	0	0	0	1	0	0	0	11854	652	23	1	4562	1	PHLPP1	18	60646006	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1424335	60646006	17431242	1139	91681											
RTTN	25914	broad.mit.edu	37	chr18	67863751	67863751	+	Frame_Shift_Del	DEL	A	A	-													aaataccgtgtttattggagAaaaaacctggatctcggtga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:67863750_67863750GA>G	uc002lkp.2	-	6	896	c.828_828TC>C	c.(826-828)ttcfs	p.F276fs	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Frame_Shift_Del_p.F276fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	276							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)				GTTTATTGGAGAAAAAACCTG	0.398													-	67863751	A	-	67863751	7	5	166	1	0	1	0	1	0	0	0	0	13737	246	9	0	6025	0	RTTN	18	67863751	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	7217745	67863751	10213497	1140	91682											
SOCS6	9306	broad.mit.edu	37	chr18	67992096	67992097	+	Frame_Shift_Ins	INS	-	-	A													gtgaagatgaaaaaggcggaINSaaaaacagatcaaaaagcga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:67992095_67992096G>GA	uc002lkr.1	+	1	507_508	c.191_192G>GA	c.(190-192)ggafs	p.G64fs	SOCS6_uc010dqq.2_Frame_Shift_Ins_p.G64fs|SOCS6_uc021ulj.1_Frame_Shift_Ins_p.G64fs	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	64					JAK-STAT cascade|defense response|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													A	67992097	-	A	67992096	7	5	166	1	0	1	1	0	0	0	0	0	14918	233	9	0	194	0	SOCS6	18	67992096	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	128345	67992096	10085152	1141	91683	444	2									
SOCS6	9306	broad.mit.edu	37	chr18	67992102	67992102	+	Silent	SNP	C	C	T													gatgaaaaaggcggaaaaaaCagatcaaaaagcgagagcct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:67992102C>T	uc002lkr.1	+	2	514	c.198C>T	c.(196-198)AAC>AAT	p.N66N	SOCS6_uc010dqq.2_Silent_p.N66N	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	66					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCGGAAAAAACAGATCAAAAA	0.478													T	67992102	C	T	67992102	2	4	166	1	0	0	0	0	0	0	0	1	14918	477	17	4		4	SOCS6	18	67992102	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	6	67992102	10085146	1142	91684	444	2									
ZNF516	9658	broad.mit.edu	37	chr18	74091541	74091541	+	Frame_Shift_Del	DEL	C	C	-													ccacttttggaccccggcatCccccctggcacctgagtgcg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:74091540_74091540TC>T	uc021ulp.1	-	3	2848	c.2530_2530GA>A	c.(2530-2532)atgfs	p.M844fs	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G843V(1)		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)		GACCCCGGCATCCCCCCTGGC	0.637													-	74091541	C	-	74091541	7	5	166	1	0	1	0	1	0	0	0	0	17957	842	30	0	979	0	ZNF516	18	74091541	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	6099439	74091541	3985707	1143	91685											
ATP9B	374868	broad.mit.edu	37	chr18	77067118	77067118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcgtgctgtgtcacAacgtgacccccgtgtatgag	11	12	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:77067118A>G	uc002lmx.2	+	15	1671	c.1657A>G	c.(1657-1659)AAC>GAC	p.N553D	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.N553D|ATP9B_uc002lmz.1_Missense_Mutation_p.N247D	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	553	Cytoplasmic (Potential).				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			ovary(3)	3		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)		GCTGTGTCACAACGTGACCCC	0.517													G	77067118	A	G	77067118	3	3	166	1	0	0	0	0	1	0	0	0	1199	130	5	3	1715	3	ATP9B	18	77067118	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	2975577	77067118	1010130	1144	91686											
CTDP1	9150	broad.mit.edu	37	chr18	77477825	77477825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagggagaacagccctgcGgcctttcccgaccgggaggg	16	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:77477825G>A	uc002lnh.1	+	10	2373	c.2226G>A	c.(2224-2226)GCG>GCA	p.A742A	CTDP1_uc002lni.1_Silent_p.A742A|CTDP1_uc010drd.1_Silent_p.A742A	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	742					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACAGCCCTGCGGCCTTTCCCG	0.667													A	77477825	G	A	77477825	2	1	166	1	0	0	0	0	0	0	0	1	4002	1103	39	1		1	CTDP1	18	77477825	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	410707	77477825	599423	1145	91687											
C18orf22	79863	broad.mit.edu	37	chr18	77798609	77798609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcagagaagtgccgcGcacatgaggtgatgaccttt	13	10	0	4	rs143262320	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:77798609G>A	uc002lns.2	+	4	621	c.483G>A	c.(481-483)GCG>GCA	p.A161A	C18orf22_uc010drh.2_Silent_p.A161A|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	161					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		GAAGTGCCGCGCACATGAGGT	0.498													A	77798609	G	A	77798609	2	1	166	1	0	0	0	0	0	0	0	1	1898	1074	38	1		1	C18orf22	18	77798609	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	320784	77798609	278639	1146	91688											
SHC2	25759	broad.mit.edu	37	chr19	422256	422256	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgcacaaggaagtccccgtCagctcgaagcatcctctctg	9	15	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:422256C>T	uc002loq.3	-	11	1510	c.1510G>A	c.(1510-1512)GAC>AAC	p.D504N	SHC2_uc002lop.3_Missense_Mutation_p.D245N	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	504	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		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)		AAGTCCCCGTCAGCTCGAAGC	0.701													T	422256	C	T	422256	3	4	166	1	0	0	0	0	1	0	0	0	14271	826	29	4	246	4	SHC2	19	422256	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08		422256	58706727	1147	91689											
ABCA7	10347	broad.mit.edu	37	chr19	1048922	1048922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggatccctgaaccatggaaTtttccttttcggaggagcta	11	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:1048922T>A	uc002lqw.3	+	17	2529	c.2298T>A	c.(2296-2298)AAT>AAA	p.N766K	ABCA7_uc010dsb.1_Missense_Mutation_p.N628K	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	766					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		AACCATGGAATTTTCCTTTTC	0.592													A	1048922	T	A	1048922	3	1	166	1	0	0	0	0	1	0	0	0	37	1490	52	5	2360	5	ABCA7	19	1048922	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	626666	1048922	58080061	1148	91690											
APC2	10297	broad.mit.edu	37	chr19	1455462	1455462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcgctgatggaggagcGcttcggcacctcggacgaga	15	13	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:1455462G>A	uc002lsr.1	+	6	810	c.602G>A	c.(601-603)CGC>CAC	p.R201H	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.R201H|APC2_uc002lsu.1_Missense_Mutation_p.R200H	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	201					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)|pancreas(1)	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)		ATGGAGGAGCGCTTCGGCACC	0.692													A	1455462	G	A	1455462	3	1	166	1	0	0	0	0	1	0	0	0	764	1087	38	1	620	1	APC2	19	1455462	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	406540	1455462	57673521	1149	91691											
TMEM146	257062	broad.mit.edu	37	chr19	5745968	5745968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctcaaccggagtttcggGctgtcttttgactataatgg	10	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:5745968G>T	uc002mda.2	+	9	763	c.702G>T	c.(700-702)GGG>GGT	p.G234G	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	234	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGAGTTTCGGGCTGTCTTTTG	0.522													T	5745968	G	T	5745968	2	4	166	1	0	0	0	0	0	0	0	1	16057	1190	42	5		5	TMEM146	19	5745968	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4290506	5745968	53383015	1150	91692											
RANBP3	8498	broad.mit.edu	37	chr19	5933443	5933443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcgctgggggcttggcCgtggatcagcgttggtggct	18	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:5933443C>T	uc002mdw.2	-	6	681	c.454G>A	c.(454-456)GGC>AGC	p.G152S	RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.G152S|RANBP3_uc002mdy.2_Missense_Mutation_p.G84S|RANBP3_uc002mdz.2_Missense_Mutation_p.G84S|RANBP3_uc010duq.2_Missense_Mutation_p.G62S|RANBP3_uc002mea.2_Missense_Mutation_p.G24S|RANBP3_uc010xix.1_Missense_Mutation_p.G24S	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	152					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGGGCTTGGCCGTGGATCAGC	0.622													T	5933443	C	T	5933443	3	4	166	1	0	0	0	0	1	0	0	0	13029	652	23	1	1297	1	RANBP3	19	5933443	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	187475	5933443	53195540	1151	91693											
CD209	30835	broad.mit.edu	37	chr19	7810788	7810788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcagctcctggtagatctCctgcagcttagatttctctg	10	11	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:7810788C>T	uc002mht.2	-	4	431	c.364G>A	c.(364-366)GAG>AAG	p.E122K	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.E98K|CD209_uc002mhr.2_Missense_Mutation_p.E98K|CD209_uc002mhs.2_Missense_Mutation_p.E98K|CD209_uc002mhu.2_Missense_Mutation_p.E122K|CD209_uc010dvq.2_Missense_Mutation_p.E122K|CD209_uc002mhq.2_Missense_Mutation_p.E122K|CD209_uc002mhv.2_Missense_Mutation_p.E98K|CD209_uc002mhx.2_Missense_Mutation_p.E78K|CD209_uc002mhw.2_Missense_Mutation_p.E78K|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	122	Extracellular (Probable).|2.|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			skin(1)	1						TGGTAGATCTCCTGCAGCTTA	0.562													T	7810788	C	T	7810788	3	4	166	1	0	0	0	0	1	0	0	0	2984	864	30	4	866	4	CD209	19	7810788	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1877345	7810788	51318195	1152	91694											
MUC16	94025	broad.mit.edu	37	chr19	9019283	9019283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagtacttacttgcggggCttgggagggagaatggagtc	16	6	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:9019283C>T	uc002mkp.2	-	23	37808	c.37604G>A	c.(37603-37605)AGC>AAC	p.S12535N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12537	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTTGCGGGGCTTGGGAGGGA	0.443													T	9019283	C	T	9019283	3	4	166	1	0	0	0	0	1	0	0	0	9973	797	28	2	6167	2	MUC16	19	9019283	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1208495	9019283	50109700	1153	91695											
MUC16	94025	broad.mit.edu	37	chr19	9061718	9061718	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgctctctggtaatgtggaGaaaaaagaagttgaggtcat	12	4	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:9061718G>A	uc002mkp.2	-	3	25932	c.25728C>T	c.(25726-25728)TTC>TTT	p.F8576F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8578	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTAATGTGGAGAAAAAAGAAG	0.537													A	9061718	G	A	9061718	2	1	166	1	0	0	0	0	0	0	0	1	9973	933	33	4		4	MUC16	19	9061718	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	42435	9061718	50067265	1154	91696											
COL5A3	50509	broad.mit.edu	37	chr19	10076989	10076989	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaggtttgggttactcaCgatctcaaacttcttgtcgg	11	8	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:10076989C>T	uc002mmq.1	-	64	4868	c.4782_splice	c.e64+1	p.I1594_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GGGTTACTCACGATCTCAAAC	0.542													T	10076989	C	T	10076989	5	4	166	1	0	0	0	0	0	0	1	0	3698	550	19	1	470	1	COL5A3	19	10076989	Splice_Site	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1015271	10076989	49051994	1155	91697											
ILF3	3609	broad.mit.edu	37	chr19	10793817	10793817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagaacgtaaaacagcaggGgccgatcctgacaaagcacg	12	10	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:10793817G>T	uc002mpn.2	+	14	1870	c.1553G>T	c.(1552-1554)GGG>GTG	p.G518V	ILF3_uc002mpm.2_Missense_Mutation_p.G522V|ILF3_uc002mpl.2_Missense_Mutation_p.G518V|ILF3_uc002mpk.2_Missense_Mutation_p.G518V|ILF3_uc010xli.1_Missense_Mutation_p.G116V|ILF3_uc002mpo.2_Missense_Mutation_p.G522V|ILF3_uc002mpp.2_Missense_Mutation_p.G343V|ILF3_uc002mpq.2_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	518					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|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAACAGCAGGGGCCGATCCTG	0.567													T	10793817	G	T	10793817	3	4	166	1	0	0	0	0	1	0	0	0	7712	1232	43	5	1615	5	ILF3	19	10793817	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	716828	10793817	48335166	1156	91698											
ILF3	3609	broad.mit.edu	37	chr19	10798154	10798154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accggtgcccccaaaacacgCtgggaagaagcagccgcacg	12	15	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:10798154C>A	uc002mpn.2	+	18	2509	c.2192C>A	c.(2191-2193)GCT>GAT	p.A731D	ILF3_uc002mpo.2_Missense_Mutation_p.A735D|ILF3_uc002mpq.2_Missense_Mutation_p.L34M	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	731	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|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAAAACACGCTGGGAAGAAG	0.657													A	10798154	C	A	10798154	3	1	166	1	0	0	0	0	1	0	0	0	7712	797	28	5	2342	5	ILF3	19	10798154	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4337	10798154	48330829	1157	91699											
LOC55908	55908	broad.mit.edu	37	chr19	11350389	11350389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagcggcccccatgggcGgcccagaactggcacagcat	12	17	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11350389G>A	uc010dxx.2	+	2	237	c.235G>A	c.(235-237)GGC>AGC	p.G79S	DOCK6_uc010xlq.1_5'Flank|DOCK6_uc002mqs.3_Intron|LOC55908_uc010dxw.2_Intron	NM_018687	NP_061157	Q6UXH0	TD26_HUMAN	hepatocellular carcinoma-associated gene TD26	26						extracellular region					0						CCCCATGGGCGGCCCAGAACT	0.657													A	11350389	G	A	11350389	3	1	166	1	0	0	0	0	1	0	0	0	8881	1116	39	1	78	1	LOC55908	19	11350389	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	552235	11350389	47778594	1158	91700											
LPPR2	64748	broad.mit.edu	37	chr19	11470601	11470601	+	Frame_Shift_Del	DEL	C	C	-													ggggcctgctgccgcttcagCcccccagtgcggaggctggt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11470601delC	uc002mre.1	+	5	697	c.360delC	c.(358-360)AGCfs	p.S120fs	LPPR2_uc002mrf.1_Frame_Shift_Del_p.S95fs|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	120						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						GCCGCTTCAGCCCCCCAGTGC	0.627													-	11470601	C	-	11470601	7	5	166	1	0	1	0	1	0	0	0	0	8925	738	26	0	370	0	LPPR2	19	11470601	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	120212	11470601	47658382	1159	91701											
ZNF440	126070	broad.mit.edu	37	chr19	11943295	11943295	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaagccttcagatAtgtgaataaccttcaaagtc	9	7	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11943295A>C	uc002msp.1	+	4	1460	c.1304A>C	c.(1303-1305)TAT>TCT	p.Y435S		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	435	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCTTCAGATATGTGAATAAC	0.413													C	11943295	A	C	11943295	3	2	166	1	0	0	0	0	1	0	0	0	17910	449	16	5	1318	5	ZNF440	19	11943295	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	472694	11943295	47185688	1160	91702											
ZNF440	126070	broad.mit.edu	37	chr19	11943375	11943375	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagacgttataaatgtaagAtatgtgggaaaggcttttat	10	2	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11943375A>C	uc002msp.1	+	4	1540	c.1384A>C	c.(1384-1386)ATA>CTA	p.I462L		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	462	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAAATGTAAGATATGTGGGAA	0.368													C	11943375	A	C	11943375	3	2	166	1	0	0	0	0	1	0	0	0	17910	333	12	5	1398	5	ZNF440	19	11943375	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	80	11943375	47185608	1161	91703											
GCDH	2639	broad.mit.edu	37	chr19	13008623	13008623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggaatgggatttctgacGagtatcacgtgatccggcac	15	8	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:13008623G>A	uc002mvq.2	+	11	1266	c.1189G>A	c.(1189-1191)GAG>AAG	p.E397K	GCDH_uc010xms.1_3'UTR|GCDH_uc002mvp.2_Missense_Mutation_p.E397K|GCDH_uc010xmt.1_Missense_Mutation_p.E231K|GCDH_uc010xmu.1_Missense_Mutation_p.E353K	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	397					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						GATTTCTGACGAGTATCACGT	0.567													A	13008623	G	A	13008623	3	1	166	1	0	0	0	0	1	0	0	0	6287	1059	37	1	1227	1	GCDH	19	13008623	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1065248	13008623	46120360	1162	91704											
IER2	9592	broad.mit.edu	37	chr19	13264528	13264528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttcccaacctggcccgCgtcctgcagaggcgcttctc	10	18	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:13264528C>T	uc002mwr.2	+	2	856	c.528C>T	c.(526-528)CGC>CGT	p.R176R		NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	immediate early response 2	176								p.A175fs*42(1)		kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			ACCTGGCCCGCGTCCTGCAGA	0.721													T	13264528	C	T	13264528	2	4	166	1	0	0	0	0	0	0	0	1	7505	755	27	1		1	IER2	19	13264528	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	255905	13264528	45864455	1163	91705											
NOTCH3	4854	broad.mit.edu	37	chr19	15278099	15278099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatgccatcagcatctgCgtcgccctgtggtggtgtca	11	13	3	0	rs139983430		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:15278099C>T	uc002nan.2	-	29	5399	c.5323G>A	c.(5323-5325)GCA>ACA	p.A1775T		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1775	Cytoplasmic (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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCAGCATCTGCGTCGCCCTGT	0.587													T	15278099	C	T	15278099	3	4	166	1	0	0	0	0	1	0	0	0	10550	768	27	1	1662	1	NOTCH3	19	15278099	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2013571	15278099	43850884	1164	91706											
NOTCH3	4854	broad.mit.edu	37	chr19	15302604	15302604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtgttgacgccatccaCgcatgtccccccattgagac	9	14	0	2	rs115836330	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:15302604C>T	uc002nan.2	-	5	830	c.754G>A	c.(754-756)GTG>ATG	p.V252M	NOTCH3_uc002nao.1_Missense_Mutation_p.V252M	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	252	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).		Missing (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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGCCATCCACGCATGTCCCC	0.612													T	15302604	C	T	15302604	3	4	166	1	0	0	0	0	1	0	0	0	10550	536	19	1	6327	1	NOTCH3	19	15302604	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	24505	15302604	43826379	1165	91707											
CHERP	10523	broad.mit.edu	37	chr19	16641463	16641463	+	Frame_Shift_Del	DEL	T	T	-													tggagtcatcgaagtagccgTttttctcccagagctgcagg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:16641462_16641462GT>G	uc002nei.1	-	6	884	c.810_810AC>C	c.(808-810)aacfs	p.N270fs	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	270	CID.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	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						CGAAGTAGCCGTTTTTCTCCC	0.632													-	16641463	T	-	16641463	7	5	166	1	0	1	0	1	0	0	0	0	3336	1725	60	0	1985	0	CHERP	19	16641463	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	1338859	16641463	42487520	1166	91708											
MYO9B	4650	broad.mit.edu	37	chr19	17322569	17322569	+	Frame_Shift_Del	DEL	G	G	-													gctggaggagcgggccgggcGgggggcctcggaaggtcagt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:17322569delG	uc010eak.2	+	39	6196	c.6044delG	c.(6043-6045)CGGfs	p.R2015fs	MYO9B_uc002nfi.2_Frame_Shift_Del_p.R2015fs|MYO9B_uc002nfm.1_Frame_Shift_Del_p.R175fs	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	2015	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(1)	1						CGGGCCGGGCGGGGGGCCTCG	0.692													-	17322569	G	-	17322569	7	5	166	1	0	1	0	1	0	0	0	0	10085	1116	39	0	6194	0	MYO9B	19	17322569	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	681106	17322569	41806414	1167	91709											
JAK3	3718	broad.mit.edu	37	chr19	17945961	17945961	+	Frame_Shift_Del	DEL	C	C	-													gaagggcgggctcccatcagCcccctcccgagccaggagca							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:17945960_17945960GC>G	uc002nhn.4	-	14	2079	c.1979_1979GC>C	c.(1978-1980)gctfs	p.A660fs	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Frame_Shift_Del_p.A660fs	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	660	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|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	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						GCTCCCATCAGCCCCCTCCCG	0.642		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								-	17945961	C	-	17945961	7	5	166	1	0	1	0	1	0	0	0	0	7939	739	26	0	1436	0	JAK3	19	17945961	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	623392	17945961	41183022	1168	91710											
ZNF101	94039	broad.mit.edu	37	chr19	19790942	19790942	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtggtgcagttccctcCgaagacatgaaatgactcac	11	10	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:19790942C>A	uc002nni.1	+	4	1254	c.1144C>A	c.(1144-1146)CGA>AGA	p.R382R	ZNF101_uc010ecg.1_Silent_p.R262R|ZNF101_uc002nnj.1_Silent_p.R262R	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	382	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAGTTCCCTCCGAAGACATGA	0.378													A	19790942	C	A	19790942	2	1	166	1	0	0	0	0	0	0	0	1	17711	644	23	5		5	ZNF101	19	19790942	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1844981	19790942	39338041	1169	91711											
ZNF100	163227	broad.mit.edu	37	chr19	21909815	21909815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattaaaagctttgccacaTtcttcacatttgtagggttt	6	8	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:21909815T>C	uc002nqi.2	-	5	1498	c.1299A>G	c.(1297-1299)GAA>GAG	p.E433E	ZNF100_uc002nqh.2_Silent_p.E369E	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	433	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTGCCACATTCTTCACATT	0.403													C	21909815	T	C	21909815	2	2	166	1	0	0	0	0	0	0	0	1	17710	1490	52	3		3	ZNF100	19	21909815	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2118873	21909815	37219168	1170	91712											
C19orf12	83636	broad.mit.edu	37	chr19	30193800	30193800	+	Frame_Shift_Del	DEL	G	G	-													agagcctctgttgctcggcaGggggcagctccattaggatc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:30193799_30193799AG>A	uc002nsj.3	-	2	406	c.279_279CT>T	c.(277-279)cctfs	p.P93fs	C19orf12_uc002nsk.3_Frame_Shift_Del_p.P82fs|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	82						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GTTGCTCGGCAGGGGGCAGCT	0.607													-	30193800	G	-	30193800	7	5	166	1	0	1	0	1	0	0	0	0	1909	1000	35	0	184	0	C19orf12	19	30193800	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	8283985	30193800	28935183	1171	91713											
C19orf2	8725	broad.mit.edu	37	chr19	30505891	30505891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actacccactattccagaacGaaaggaagttctgttggaag	9	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:30505891G>A	uc002nsr.2	+	11	1553	c.1523G>A	c.(1522-1524)CGA>CAA	p.R508Q	C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.R468Q|C19orf2_uc002nst.2_Missense_Mutation_p.R432Q	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	508					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		ATTCCAGAACGAAAGGAAGTT	0.433													A	30505891	G	A	30505891	3	1	166	1	0	0	0	0	1	0	0	0	1911	1058	37	1	1565	1	C19orf2	19	30505891	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	312091	30505891	28623092	1172	91714											
PEPD	5184	broad.mit.edu	37	chr19	33968993	33968993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatggtattgttgacttcGaacctgtagggcgaaaagaa	12	5	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:33968993G>A	uc002nur.3	-	7	642	c.507C>T	c.(505-507)TTC>TTT	p.F169F	PEPD_uc010xrr.1_Silent_p.F169F|PEPD_uc010xrs.1_Silent_p.F105F	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	169					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					TGTTGACTTCGAACCTGTAGG	0.478													A	33968993	G	A	33968993	2	1	166	1	0	0	0	0	0	0	0	1	11728	1049	37	1		1	PEPD	19	33968993	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	3463102	33968993	25159990	1173	91715											
PEPD	5184	broad.mit.edu	37	chr19	33980958	33980958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgctgtccgtgttgacGccacgctggggagagagaac	15	12	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:33980958G>A	uc002nur.3	-	6	582	c.447C>T	c.(445-447)GGC>GGT	p.G149G	PEPD_uc010xrr.1_Silent_p.G149G|PEPD_uc010xrs.1_Silent_p.G85G	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	149					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	p.G149G(1)		ovary(2)	2	Esophageal squamous(110;0.137)					CCGTGTTGACGCCACGCTGGG	0.652													A	33980958	G	A	33980958	2	1	166	1	0	0	0	0	0	0	0	1	11728	1074	38	1		1	PEPD	19	33980958	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	11965	33980958	25148025	1174	91716											
HPN	3249	broad.mit.edu	37	chr19	35550661	35550661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctcctcgcgctccaAcgccagggtagccggactca	12	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:35550661A>G	uc002nxq.1	+	6	490	c.245A>G	c.(244-246)AAC>AGC	p.N82S	HPN_uc002nxr.1_Missense_Mutation_p.N82S|HPN_uc002nxs.1_Missense_Mutation_p.N34S|HPN_uc010xsh.1_Missense_Mutation_p.N51S|HPN_uc002nxt.1_5'UTR|LOC100128675_uc010xsi.1_Silent_p.L82L	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	82	SRCR.|Extracellular (Potential).				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TCGCGCTCCAACGCCAGGGTA	0.682													G	35550661	A	G	35550661	3	3	166	1	0	0	0	0	1	0	0	0	7336	43	2	3	259	3	HPN	19	35550661	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1569703	35550661	23578322	1175	91717											
MAG	4099	broad.mit.edu	37	chr19	35801452	35801452	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcttttctgtcctcagatCgactgatgtgggccaagatc	11	10	3	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:35801452C>T	uc002nyy.1	+	9	1671	c.1522C>T	c.(1522-1524)CGA>TGA	p.R508*	MAG_uc002nyx.1_Nonsense_Mutation_p.R508*|MAG_uc010eds.1_Nonsense_Mutation_p.R483*|MAG_uc002nyz.1_Nonsense_Mutation_p.R508*	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	508	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			GTCCTCAGATCGACTGATGTG	0.562													T	35801452	C	T	35801452	4	4	166	1	0	0	0	0	0	1	0	0	9162	876	31	1	1548	1	MAG	19	35801452	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	250791	35801452	23327531	1176	91718											
FFAR1	2864	broad.mit.edu	37	chr19	35842942	35842942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgggcatcaacacacCggtcaacggctctccggtct	9	17	4	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:35842942C>T	uc002nzc.2	+	1	498	c.488C>T	c.(487-489)CCG>CTG	p.P163L		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	163	Extracellular (Potential).				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)	1	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)	ATCAACACACCGGTCAACGGC	0.657													T	35842942	C	T	35842942	3	4	166	1	0	0	0	0	1	0	0	0	5827	652	23	1	490	1	FFAR1	19	35842942	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	41490	35842942	23286041	1177	91719											
MLL4	9757	broad.mit.edu	37	chr19	36229028	36229028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggggagatggtcatcgAgtactctggcattgtcatcc	14	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36229028A>C	uc010eei.2	+	37	7808	c.7808A>C	c.(7807-7809)GAG>GCG	p.E2603A		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2603	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTCATCGAGTACTCTGGC	0.592													C	36229028	A	C	36229028	3	2	166	1	0	0	0	0	1	0	0	0	9623	304	11	5	7950	5	MLL4	19	36229028	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	386086	36229028	22899955	1178	91720											
ARHGAP33	115703	broad.mit.edu	37	chr19	36279193	36279193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcagccccgccagcctaCggaagggggggcgagctcca	17	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36279193C>T	uc002obs.1	+	21	3328	c.3243C>T	c.(3241-3243)TAC>TAT	p.Y1081Y	ARHGAP33_uc002obt.1_Silent_p.Y1078Y|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.Y830Y	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1242					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CGCCAGCCTACGGAAGGGGGG	0.687													T	36279193	C	T	36279193	2	4	166	1	0	0	0	0	0	0	0	1	882	547	19	1		1	ARHGAP33	19	36279193	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	50165	36279193	22849790	1179	91721											
TYROBP	7305	broad.mit.edu	37	chr19	36399123	36399123	+	Frame_Shift_Del	DEL	C	C	-													gcctgctgcagggttcaagtCcccccatgaagccggatgct							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36399122_36399122TC>T	uc002ocm.3	-	0	90	c.9_9GA>A	c.(7-9)ggafs	p.G3fs	TYROBP_uc002ocn.3_Frame_Shift_Del_p.G3fs|TYROBP_uc021uta.1_Frame_Shift_Del_p.G3fs|TYROBP_uc021utb.1_Frame_Shift_Del_p.G3fs|TYROBP_uc021utc.1_Non-coding_Transcript	NM_003332	NP_003323	O43914	TYOBP_HUMAN	Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 1, mRNA.	3					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	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)			AGGGTTCAAGTCCCCCCATGA	0.647													-	36399123	C	-	36399123	7	5	166	1	0	1	0	1	0	0	0	0	16812	855	30	0	353	0	TYROBP	19	36399123	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	119930	36399123	22729860	1180	91722											
LRFN3	79414	broad.mit.edu	37	chr19	36430659	36430659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacctgcgggccctgcgtgCcctgcacctggatggcaacc	13	17	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36430659C>T	uc002oco.2	+	2	784	c.332C>T	c.(331-333)GCC>GTC	p.A111V		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	111	LRR 3.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			GCCCTGCGTGCCCTGCACCTG	0.682													T	36430659	C	T	36430659	3	4	166	1	0	0	0	0	1	0	0	0	8939	739	26	2	334	2	LRFN3	19	36430659	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	31536	36430659	22698324	1181	91723											
ZNF461	92283	broad.mit.edu	37	chr19	37130820	37130820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagttgccttcccagatagCgctgaaaattgatctctcag	8	11	2	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:37130820C>T	uc002oem.2	-	6	655	c.427G>A	c.(427-429)GCT>ACT	p.A143T	ZNF461_uc002oen.2_Missense_Mutation_p.A112T|ZNF461_uc010xtj.1_Missense_Mutation_p.A120T	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCCAGATAGCGCTGAAAATT	0.373													T	37130820	C	T	37130820	3	4	166	1	0	0	0	0	1	0	0	0	17922	768	27	1	1268	1	ZNF461	19	37130820	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	700161	37130820	21998163	1182	91724											
ZNF793	390927	broad.mit.edu	37	chr19	38027882	38027882	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccataagcaagaaaacaTtgcccaaggagaaaagctgt	9	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:38027882T>A	uc010efm.2	+	8	764	c.322T>A	c.(322-324)TTG>ATG	p.L108M	ZNF793_uc010xts.1_Missense_Mutation_p.L108M|ZNF793_uc010efo.2_Missense_Mutation_p.L108M	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAGAAAACATTGCCCAAGGA	0.433													A	38027882	T	A	38027882	3	1	166	1	0	0	0	0	1	0	0	0	18162	1490	52	5	336	5	ZNF793	19	38027882	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	897062	38027882	21101101	1183	91725											
SPINT2	10653	broad.mit.edu	37	chr19	38780920	38780920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcatgctccgctgcttcCgtaagtctgcagcccctcag	9	17	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:38780920C>T	uc002ohr.1	+	5	884	c.553C>T	c.(553-555)CGC>TGC	p.R185C	SPINT2_uc002ohs.1_Missense_Mutation_p.R128C	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	185	Extracellular (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGCTGCTTCCGTAAGTCTGC	0.567													T	38780920	C	T	38780920	3	4	166	1	0	0	0	0	1	0	0	0	15068	666	23	1	571	1	SPINT2	19	38780920	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	753038	38780920	20348063	1184	91726											
RYR1	6261	broad.mit.edu	37	chr19	38980003	38980003	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgaggaaaaagaggaagagGaggcagcagaaggggagaaa	18	2	0	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:38980003G>T	uc002oit.2	+	35	5864	c.5734G>T	c.(5734-5736)GAG>TAG	p.E1912*	RYR1_uc002oiu.2_Nonsense_Mutation_p.E1912*	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1912	Glu-rich (acidic).|Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	agaggaagaggaggCAGCAGA	0.264													T	38980003	G	T	38980003	4	4	166	1	0	0	0	0	0	1	0	0	13768	1175	41	5	5872	5	RYR1	19	38980003	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	199083	38980003	20148980	1185	91727											
RYR1	6261	broad.mit.edu	37	chr19	39019617	39019617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcaggaggaggaggaGgaagaggtggaagagaagaa	23	1	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39019617G>A	uc002oit.2	+	76	11191	c.11061G>A	c.(11059-11061)GAG>GAA	p.E3687E	RYR1_uc002oiu.2_Silent_p.E3682E|RYR1_uc002oiv.1_Silent_p.E602E|RYR1_uc010xuf.1_Silent_p.E607E	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3687					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aggaggaggaggaagaggtgg	0.493													A	39019617	G	A	39019617	2	1	166	1	0	0	0	0	0	0	0	1	13768	991	35	4		4	RYR1	19	39019617	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	39614	39019617	20109366	1186	91728											
HNRNPL	3191	broad.mit.edu	37	chr19	39329144	39329144	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgctctggggtggagaaccGattgttccgggattcactga	14	9	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39329144G>T	uc010xul.1	-	10	1461	c.1450C>A	c.(1450-1452)CGG>AGG	p.R484R	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Silent_p.R140R|HNRNPL_uc002ojo.1_Silent_p.R62R|HNRNPL_uc002ojk.2_Silent_p.R140R|HNRNPL_uc002ojl.2_Silent_p.R140R|HNRNPL_uc010xum.1_Silent_p.R351R	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	484					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTGGAGAACCGATTGTTCCGG	0.572													T	39329144	G	T	39329144	2	4	166	1	0	0	0	0	0	0	0	1	7270	1057	37	5		5	HNRNPL	19	39329144	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	309527	39329144	19799839	1187	91729											
LRFN1	57622	broad.mit.edu	37	chr19	39805733	39805733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttggcgaagtctcggcGgcgcacggcggcgatgaagt	17	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39805733G>A	uc002okw.2	-	1	244	c.244C>T	c.(244-246)CGC>TGC	p.R82C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	82	LRR 1.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	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)			AAGTCTCGGCGGCGCACGGCG	0.677													A	39805733	G	A	39805733	3	1	166	1	0	0	0	0	1	0	0	0	8937	1116	39	1	2079	1	LRFN1	19	39805733	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	476589	39805733	19323250	1188	91730											
PLEKHG2	64857	broad.mit.edu	37	chr19	39914611	39914611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaggaggttcccggcaTgtccaggctccagccgccac	13	15	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39914611T>C	uc010xuz.1	+	19	3163	c.2838T>C	c.(2836-2838)CAT>CAC	p.H946H	PLEKHG2_uc010xuy.1_Silent_p.H887H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.H724H	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	946					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			skin(2)|pancreas(1)|breast(1)	4	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)			GTTCCCGGCATGTCCAGGCTC	0.567													C	39914611	T	C	39914611	2	2	166	1	0	0	0	0	0	0	0	1	12069	1461	51	3		3	PLEKHG2	19	39914611	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	108878	39914611	19214372	1189	91731											
SUPT5H	6829	broad.mit.edu	37	chr19	39961140	39961140	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactgtgggtgtcatcgtgCgactagaacgggagaccttc	14	9	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39961140C>T	uc002olo.3	+	18	1833	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*	SUPT5H_uc002olp.3_Nonsense_Mutation_p.R552*|SUPT5H_uc002olq.3_Nonsense_Mutation_p.R548*|SUPT5H_uc002oln.3_Nonsense_Mutation_p.R552*|SUPT5H_uc002olr.3_Nonsense_Mutation_p.R552*|SUPT5H_uc002ols.1_Nonsense_Mutation_p.R175*|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	552					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTCATCGTGCGACTAGAACG	0.597													T	39961140	C	T	39961140	4	4	166	1	0	0	0	0	0	1	0	0	15396	760	27	1	1720	1	SUPT5H	19	39961140	Nonsense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	46529	39961140	19167843	1190	91732											
DLL3	10683	broad.mit.edu	37	chr19	39995921	39995921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggttctacgggctgcGgtgtgaggtgagcggggtga	22	6	1	3	rs141671275	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39995921G>A	uc002olx.2	+	6	981	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	DLL3_uc010egq.2_Missense_Mutation_p.R308Q|DLL3_uc002olw.2_Missense_Mutation_p.R308Q	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	308	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			TACGGGCTGCGGTGTGAGGTG	0.592													A	39995921	G	A	39995921	3	1	166	1	0	0	0	0	1	0	0	0	4567	1116	39	1	945	1	DLL3	19	39995921	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	34781	39995921	19133062	1191	91733											
MAP3K10	4294	broad.mit.edu	37	chr19	40710471	40710471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggccgtggcgtatggcGtggctatgaataagctgacg	15	9	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:40710471G>A	uc002ona.2	+	3	1231	c.943G>A	c.(943-945)GTG>ATG	p.V315M	MAP3K10_uc002onb.2_Translation_Start_Site	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	315	Protein kinase.				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			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GGCGTATGGCGTGGCTATGAA	0.682													A	40710471	G	A	40710471	3	1	166	1	0	0	0	0	1	0	0	0	9244	1145	40	1	953	1	MAP3K10	19	40710471	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	714550	40710471	18418512	1192	91734											
HIPK4	147746	broad.mit.edu	37	chr19	40887032	40887032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcactgtctcaatctggTccaacgacttgagcatatac	6	12	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:40887032T>C	uc002onp.2	-	3	1151	c.866A>G	c.(865-867)GAC>GGC	p.D289G		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	289	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTCAATCTGGTCCAACGACTT	0.632													C	40887032	T	C	40887032	3	2	166	1	0	0	0	0	1	0	0	0	7119	1667	58	3	992	3	HIPK4	19	40887032	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	176561	40887032	18241951	1193	91735											
PRX	57716	broad.mit.edu	37	chr19	40901531	40901531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcctcaatttccacggCgggcagctgtggggtgacaa	12	13	1	1	rs145203783		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:40901531C>T	uc002onr.2	-	7	2997	c.2728G>A	c.(2728-2730)GCC>ACC	p.A910T	PRX_uc002onq.2_Missense_Mutation_p.A771T|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	910					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATTTCCACGGCGGGCAGCTGT	0.587													T	40901531	C	T	40901531	3	4	166	1	0	0	0	0	1	0	0	0	12642	768	27	1	1661	1	PRX	19	40901531	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	14499	40901531	18227452	1194	91736											
SHKBP1	92799	broad.mit.edu	37	chr19	41094670	41094670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggcatggcggctgcagtGctggcaatgacattggtgcc	16	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:41094670G>A	uc002oob.2	+	14	1526	c.1477G>A	c.(1477-1479)GCT>ACT	p.A493T	SHKBP1_uc002ooc.2_Missense_Mutation_p.A468T|SHKBP1_uc002ood.2_Missense_Mutation_p.A493T|SHKBP1_uc010xvl.1_Missense_Mutation_p.A416T|SHKBP1_uc002ooe.2_Missense_Mutation_p.A330T|SHKBP1_uc002oof.2_Missense_Mutation_p.A330T|SHKBP1_uc010xvm.1_Missense_Mutation_p.A273T|SHKBP1_uc010xvn.1_Missense_Mutation_p.A371T	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	493						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCTGCAGTGCTGGCAATGA	0.627													A	41094670	G	A	41094670	3	1	166	1	0	0	0	0	1	0	0	0	14284	1319	46	2	1531	2	SHKBP1	19	41094670	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	193139	41094670	18034313	1195	91737											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41782099	41782099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttcaaggtggcccgagatCggagtagtggctatccgctc	13	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:41782099C>T	uc002oqb.3	+	5	971	c.682C>T	c.(682-684)CGG>TGG	p.R228W	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R128W|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R128W|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R228W|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R185W|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R128W|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R128W|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R128W|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R128W|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R84W|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.R128W	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	228	B30.2/SPRY.|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			central_nervous_system(1)|skin(1)	2						GGCCCGAGATCGGAGTAGTGG	0.463													T	41782099	C	T	41782099	3	4	166	1	0	0	0	0	1	0	0	0	7274	875	31	1	700	1	HNRNPUL1	19	41782099	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	687429	41782099	17346884	1196	91738											
B3GNT8	374907	broad.mit.edu	37	chr19	41931674	41931674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcggatgcaaaggccaGtgtagacgtcctcaaagggg	16	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:41931674G>A	uc002oqs.2	-	3	1464	c.1010C>T	c.(1009-1011)ACT>ATT	p.T337I	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	337	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0						GCAAAGGCCAGTGTAGACGTC	0.687													A	41931674	G	A	41931674	3	1	166	1	0	0	0	0	1	0	0	0	1263	1029	36	4	187	4	B3GNT8	19	41931674	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	149575	41931674	17197309	1197	91739											
ATP1A3	478	broad.mit.edu	37	chr19	42486241	42486241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggccatgcgcttggcGgtcagcgtcagacacacctg	13	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:42486241G>A	uc002osg.2	-	9	1165	c.1011C>T	c.(1009-1011)ACC>ACT	p.T337T	ATP1A3_uc010xwf.1_Silent_p.T348T|ATP1A3_uc010xwg.1_Silent_p.T307T|ATP1A3_uc010xwh.1_Silent_p.T350T|ATP1A3_uc002osh.2_Silent_p.T337T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	337	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TGCGCTTGGCGGTCAGCGTCA	0.493													A	42486241	G	A	42486241	2	1	166	1	0	0	0	0	0	0	0	1	1130	1103	39	1		1	ATP1A3	19	42486241	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	554567	42486241	16642742	1198	91740											
CEACAM1	634	broad.mit.edu	37	chr19	43023168	43023168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagacctcacaccaatacGtcccagcatcctccctcttg	5	17	2	2	rs138618516	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:43023168G>A	uc002otv.2	-	5	1291	c.1178C>T	c.(1177-1179)ACG>ATG	p.T393M	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Missense_Mutation_p.T393M|CEACAM1_uc010eij.2_Missense_Mutation_p.T393M|CEACAM1_uc002otx.2_Intron|CEACAM1_uc002oty.2_Intron|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.T393M|CEACAM1_uc002oub.2_Silent_p.D348D	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	393	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACACCAATACGTCCCAGCATC	0.512													A	43023168	G	A	43023168	3	1	166	1	0	0	0	0	1	0	0	0	3187	1145	40	1	519	1	CEACAM1	19	43023168	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	536927	43023168	16105815	1199	91741											
PSG3	5671	broad.mit.edu	37	chr19	43233450	43233450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctggtgggttagagtcCgcgaagcaggacaagtagag	16	7	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:43233450C>T	uc002oue.2	-	5	1200	c.1068G>A	c.(1066-1068)GCG>GCA	p.A356A	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.A356A|PSG3_uc010eil.2_Silent_p.A378A	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	356	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GGTTAGAGTCCGCGAAGCAGG	0.443													T	43233450	C	T	43233450	2	4	166	1	0	0	0	0	0	0	0	1	12656	639	23	1		1	PSG3	19	43233450	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	210282	43233450	15895533	1200	91742											
IRGC	56269	broad.mit.edu	37	chr19	44223611	44223611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatccactcactgcgtggcTaccaccgcagctttggtctg	9	15	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:44223611T>C	uc002oxh.2	+	2	1048	c.901T>C	c.(901-903)TAC>CAC	p.Y301H		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	301						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				ACTGCGTGGCTACCACCGCAG	0.667													C	44223611	T	C	44223611	3	2	166	1	0	0	0	0	1	0	0	0	7838	1522	53	3	903	3	IRGC	19	44223611	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	990161	44223611	14905372	1201	91743											
ZNF233	353355	broad.mit.edu	37	chr19	44777229	44777229	+	Frame_Shift_Del	DEL	C	C	-													gttgctaaaacaaggtgattCcccctgtcaggtgtggacag							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:44777228_44777228TC>T	uc021uvi.1	+	4	521	c.415_415TC>T	c.(415-417)tccfs	p.S139fs	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Frame_Shift_Del_p.S139fs	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	139					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)				ACAAGGTGATTCCCCCTGTCA	0.378													-	44777229	C	-	44777229	7	5	166	1	0	1	0	1	0	0	0	0	17783	855	30	0	430	0	ZNF233	19	44777229	Frame_Shift_Del	DEL	C	TCGA-CG-4306-01A-01D-1158-08	553618	44777229	14351754	1202	91744											
SFRS16	11129	broad.mit.edu	37	chr19	45556099	45556099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgaccgattcgatgtccGtgcccacctggaccacatcc	9	15	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:45556099G>A	uc002pak.2	+	4	346	c.248G>A	c.(247-249)CGT>CAT	p.R83H	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Intron|SFRS16_uc002pam.2_Missense_Mutation_p.R83H|SFRS16_uc002pan.1_RNA	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	83					mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCGATGTCCGTGCCCACCTG	0.607													A	45556099	G	A	45556099	3	1	166	1	0	0	0	0	1	0	0	0	14172	1145	40	1	258	1	SFRS16	19	45556099	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	778870	45556099	13572884	1203	91745											
ERCC2	2068	broad.mit.edu	37	chr19	45867584	45867584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatggagtcgatgcagaCgttgtctggagaagggggag	18	6	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:45867584C>T	uc002pbj.2	-	9	771	c.724G>A	c.(724-726)GTC>ATC	p.V242I	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.V164I|ERCC2_uc002pbk.2_Missense_Mutation_p.V218I|ERCC2_uc002pbl.3_Missense_Mutation_p.V218I|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	242	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			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCGATGCAGACGTTGTCTGGA	0.677			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	45867584	C	T	45867584	3	4	166	1	0	0	0	0	1	0	0	0	5213	536	19	1	1675	1	ERCC2	19	45867584	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	311485	45867584	13261399	1204	91746											
FBXO46	23403	broad.mit.edu	37	chr19	46215641	46215641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcactcatctaccacgccCgtcaccaccacgtccacgtg	6	19	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46215641C>T	uc002pcy.2	-	2	1238	c.1113G>A	c.(1111-1113)ACG>ACA	p.T371T	FBXO46_uc002pcz.2_Silent_p.T371T	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	371							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		CTACCACGCCCGTCACCACCA	0.692													T	46215641	C	T	46215641	2	4	166	1	0	0	0	0	0	0	0	1	5755	639	23	1		1	FBXO46	19	46215641	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	348057	46215641	12913342	1205	91747											
FBXO46	23403	broad.mit.edu	37	chr19	46215859	46215859	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatcttgtccttggctcGggccccaggacctgggctgc	14	13	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46215859G>T	uc002pcy.2	-	2	1020	c.895C>A	c.(895-897)CGA>AGA	p.R299R	FBXO46_uc002pcz.2_Silent_p.R299R	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	299							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		TCCTTGGCTCGGGCCCCAGGA	0.682													T	46215859	G	T	46215859	2	4	166	1	0	0	0	0	0	0	0	1	5755	1124	39	5		5	FBXO46	19	46215859	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	218	46215859	12913124	1206	91748											
RSPH6A	81492	broad.mit.edu	37	chr19	46314009	46314009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaaccactcccactgcGtggtgcggttcagagactcc	13	13	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46314009G>A	uc002pdm.2	-	2	883	c.740C>T	c.(739-741)ACG>ATG	p.T247M	RSPH6A_uc002pdl.2_Translation_Start_Site	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	247						intracellular				ovary(1)|central_nervous_system(1)	2						CTCCCACTGCGTGGTGCGGTT	0.622													A	46314009	G	A	46314009	3	1	166	1	0	0	0	0	1	0	0	0	13707	1145	40	1	1433	1	RSPH6A	19	46314009	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	98150	46314009	12814974	1207	91749											
CCDC8	83987	broad.mit.edu	37	chr19	46915101	46915101	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccccctggtcagctggggCccctgccctctgattacctg	11	17	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46915101C>G	uc002pep.2	-	1	1819	c.967G>C	c.(967-969)GCC>CCC	p.A323P		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	323						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TCAGCTGGGGCCCCTGCCCTC	0.627													G	46915101	C	G	46915101	3	3	166	1	0	0	0	0	1	0	0	0	2853	739	26	5	653	5	CCDC8	19	46915101	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	601092	46915101	12213882	1208	91750											
PNMAL1	55228	broad.mit.edu	37	chr19	46973245	46973245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcagacacccaggccaCggccttcttctttggtgggc	12	14	2	1	rs144904720	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46973245C>T	uc002peq.3	-	2	1354	c.1048G>A	c.(1048-1050)GTG>ATG	p.V350M	PNMAL1_uc002per.3_Missense_Mutation_p.V350M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	350											0		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)		ACCCAGGCCACGGCCTTCTTC	0.597													T	46973245	C	T	46973245	3	4	166	1	0	0	0	0	1	0	0	0	12157	536	19	1	301	1	PNMAL1	19	46973245	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	58144	46973245	12155738	1209	91751											
PNMAL2	57469	broad.mit.edu	37	chr19	46998617	46998617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcggctgcaggacggcttCgacgtctgcctgctccaggc	15	14	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46998617C>T	uc002pes.2	-	1	553	c.106G>A	c.(106-108)GAA>AAA	p.E36K	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	36										central_nervous_system(1)	1		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)		aggacggcttcgacgtctgcc	0													T	46998617	C	T	46998617	3	4	166	1	0	0	0	0	1	0	0	0	12158	893	31	1	1805	1	PNMAL2	19	46998617	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	25372	46998617	12130366	1210	91752											
GLTSCR1	29998	broad.mit.edu	37	chr19	48201924	48201924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacaaacaccagggctcCgtcctgcaccccgactacaa	7	17	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:48201924C>T	uc002phh.3	+	12	3476	c.3282C>T	c.(3280-3282)TCC>TCT	p.S1094S	GLTSCR1_uc002phi.3_Silent_p.S852S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1094							protein binding			pancreas(3)	3		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)		ACCAGGGCTCCGTCCTGCACC	0.662											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48201924	C	T	48201924	2	4	166	1	0	0	0	0	0	0	0	1	6474	639	23	1		1	GLTSCR1	19	48201924	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1203307	48201924	10927059	1211	91753											
PLEKHA4	57664	broad.mit.edu	37	chr19	49340665	49340665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgggacctcctccacGcccactccctcggcgagaga	14	16	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:49340665G>A	uc002pkx.2	-	20	2772	c.2221C>T	c.(2221-2223)CGT>TGT	p.R741C	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	741						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		CCTCCTCCACGCCCACTCCCT	0.711													A	49340665	G	A	49340665	3	1	166	1	0	0	0	0	1	0	0	0	12058	1087	38	1	122	1	PLEKHA4	19	49340665	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1138741	49340665	9788318	1212	91754											
NUCB1	4924	broad.mit.edu	37	chr19	49404120	49404120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctcctgcttcgcGccgtgctggctgtccccctg	12	17	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:49404120G>A	uc002plb.3	+	2	139	c.67G>A	c.(67-69)GCC>ACC	p.A23T	NUCB1_uc002pla.2_Missense_Mutation_p.A23T|NUCB1_uc002plc.2_Missense_Mutation_p.A23T|TULP2_uc002pkz.2_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	23						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		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)		cctgctTCGCGCCGTGCTGGC	0.582													A	49404120	G	A	49404120	3	1	166	1	0	0	0	0	1	0	0	0	10718	1087	38	1	69	1	NUCB1	19	49404120	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	63455	49404120	9724863	1213	91755											
DHDH	27294	broad.mit.edu	37	chr19	49439393	49439393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcccacgggcgtgaacGcggcggaagttcgcgagatg	17	10	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:49439393G>A	uc002ple.1	+	3	347	c.307G>A	c.(307-309)GCG>ACG	p.A103T		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	103					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				0		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)		GGGCGTGAACGCGGCGGAAGT	0.647													A	49439393	G	A	49439393	3	1	166	1	0	0	0	0	1	0	0	0	4479	1087	38	1	317	1	DHDH	19	49439393	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	35273	49439393	9689590	1214	91756											
NUP62	23636	broad.mit.edu	37	chr19	50412220	50412220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggtggtgctgctgctgctgGtggtggtggcggtggcggtg	23	7	0	0	rs149572563	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:50412220G>C	uc002pqx.2	-	2	949	c.845C>G	c.(844-846)ACC>AGC	p.T282S	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T282S|NUP62_uc002pqz.2_Missense_Mutation_p.T282S|NUP62_uc002pra.2_Missense_Mutation_p.T282S|NUP62_uc002prb.2_Missense_Mutation_p.T282S|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	282	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		gctgctgctggtggtggtggc	0.448													C	50412220	G	C	50412220	3	2	166	1	0	0	0	0	1	0	0	0	10768	1261	44	5	727	5	NUP62	19	50412220	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	972827	50412220	8716763	1215	91757											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115550	52115550	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctggtccttaggctccctCgacttcatctcagaaaaact	6	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:52115550C>T	uc002pxe.2	-	9	1729	c.1590G>A	c.(1588-1590)TCG>TCA	p.S530S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	530	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TAGGCTCCCTCGACTTCATCT	0.552													T	52115550	C	T	52115550	2	4	166	1	0	0	0	0	0	0	0	1	14311	871	31	1		1	SIGLEC5	19	52115550	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1703330	52115550	7013433	1216	91758											
ZNF880	400713	broad.mit.edu	37	chr19	52888041	52888041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcatcatagaatgcacaCgggagagcaaccttacaaat	7	10	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:52888041C>T	uc002pzc.2	+	4	1257	c.1208C>T	c.(1207-1209)ACG>ATG	p.T403M		NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	zinc finger protein LOC400713	403					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AGAATGCACACGGGAGAGCAA	0.408													T	52888041	C	T	52888041	3	4	166	1	0	0	0	0	1	0	0	0	18194	536	19	1	1222	1	ZNF880	19	52888041	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	772491	52888041	6240942	1217	91759											
LILRB2	10288	broad.mit.edu	37	chr19	54783692	54783692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctcagaccaccgagcGcggctgtaatactgacagcc	11	14	1	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:54783692G>A	uc002qfb.2	-	4	575	c.309C>T	c.(307-309)CGC>CGT	p.R103R	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.R103R|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.R103R|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	103	Extracellular (Potential).|Ig-like C2-type 1.				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			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCACCGAGCGCGGCTGTAAT	0.587													A	54783692	G	A	54783692	2	1	166	1	0	0	0	0	0	0	0	1	8791	1074	38	1		1	LILRB2	19	54783692	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1895651	54783692	4345291	1218	91760											
LILRB4	11006	broad.mit.edu	37	chr19	55177749	55177749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagccagagcccaaggaCgggggcctacagaggaggta	17	11	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:55177749C>T	uc002qgp.2	+	8	1295	c.933C>T	c.(931-933)GAC>GAT	p.D311D	LILRB4_uc002qgq.2_Silent_p.D311D|LILRB4_uc002qgr.2_Silent_p.D352D|LILRB4_uc010ert.2_Silent_p.D352D|LILRB4_uc010eru.2_Silent_p.D340D	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		AGCCCAAGGACGGGGGCCTAC	0.602													T	55177749	C	T	55177749	2	4	166	1	0	0	0	0	0	0	0	1	8793	535	19	1		1	LILRB4	19	55177749	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	394057	55177749	3951234	1219	91761											
KIR2DL1	3802	broad.mit.edu	37	chr19	55286823	55286823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggccctgccacccacGgagggacctacagatgcttc	11	16	1	1	rs147043371	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:55286823G>A	uc002qhb.1	+	4	615	c.577G>A	c.(577-579)GGA>AGA	p.G193R	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.G193R	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	193	Extracellular (Potential).|Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		TGCCACCCACGGAGGGACCTA	0.572													A	55286823	G	A	55286823	3	1	166	1	0	0	0	0	1	0	0	0	8316	1117	39	1	591	1	KIR2DL1	19	55286823	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	109074	55286823	3842160	1220	91762											
FIZ1	84922	broad.mit.edu	37	chr19	56104559	56104559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggccctgcaggtcgtGcgtcagcttgtgccgctcca	14	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:56104559G>A	uc002qli.3	-	3	838	c.748C>T	c.(748-750)CAC>TAC	p.H250Y	FIZ1_uc002qlj.3_Missense_Mutation_p.H250Y	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	250	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGCAGGTCGTGCGTCAGCTTG	0.587													A	56104559	G	A	56104559	3	1	166	1	0	0	0	0	1	0	0	0	5900	1319	46	2	746	2	FIZ1	19	56104559	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	817736	56104559	3024424	1221	91763											
ZNF580	51157	broad.mit.edu	37	chr19	56153990	56153992	+	In_Frame_Del	DEL	CTT	CTT	-													ggaaggcccctcctccactcCttcctcggcggcggggcccc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:56153990_56153992delCTT	uc002qlo.2	+	2	286_288	c.116_118delCTT	c.(115-120)CCTTCC>CCC	p.S41del	ZNF580_uc002qlm.2_In_Frame_Del_p.S54del|ZNF581_uc002qln.2_Intron|ZNF580_uc002qlp.2_In_Frame_Del_p.S41del|ZNF580_uc010ygd.1_In_Frame_Del_p.S41del|ZNF581_uc002qlq.2_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	zinc finger protein 580	41	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCCTCCACTCCTTCCTcggcggc	0.567													-	56153992	CTT	-	56153990	7	5	166	1	0	1	0	1	0	0	0	0	18009	681	24	0	118	0	ZNF580	19	56153990	In_Frame_Del	DEL	CTT	TCGA-CG-4306-01A-01D-1158-08	49431	56153990	2974993	1222	91764											
NLRP5	126206	broad.mit.edu	37	chr19	56538862	56538862	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagaagctcaagtcagaggtCgtgtctccccgttacctgtt	11	11	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:56538862C>A	uc002qmj.2	+	7	1263	c.1263C>A	c.(1261-1263)GTC>GTA	p.V421V	NLRP5_uc002qmi.2_Silent_p.V402V	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	421	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTCAGAGGTCGTGTCTCCCC	0.547													A	56538862	C	A	56538862	2	1	166	1	0	0	0	0	0	0	0	1	10480	871	31	5		5	NLRP5	19	56538862	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	384872	56538862	2590121	1223	91765											
ZNF71	58491	broad.mit.edu	37	chr19	57133352	57133352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcctctctcacccagcacGagcggatccacacgggggag	11	16	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:57133352G>A	uc002qnm.3	+	3	935	c.697G>A	c.(697-699)GAG>AAG	p.E233K		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	233	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CACCCAGCACGAGCGGATCCA	0.647													A	57133352	G	A	57133352	3	1	166	1	0	0	0	0	1	0	0	0	18111	1059	37	1	699	1	ZNF71	19	57133352	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	594490	57133352	1995631	1224	91766											
USP29	57663	broad.mit.edu	37	chr19	57642249	57642249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatggctgaacagctccagCagtgtattgaggagagcatc	13	8	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:57642249C>A	uc002qny.2	+	4	2562	c.2206C>A	c.(2206-2208)CAG>AAG	p.Q736K		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	736					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		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)		ACAGCTCCAGCAGTGTATTGA	0.458													A	57642249	C	A	57642249	3	1	166	1	0	0	0	0	1	0	0	0	17056	711	25	5	2208	5	USP29	19	57642249	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	508897	57642249	1486734	1225	91767											
ZNF543	125919	broad.mit.edu	37	chr19	57839291	57839291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaaatgagttctgaacGtgatggtttggggtcagatg	16	3	2	5			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:57839291G>A	uc002qoi.1	+	4	806	c.461G>A	c.(460-462)CGT>CAT	p.R154H		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		AGTTCTGAACGTGATGGTTTG	0.453													A	57839291	G	A	57839291	3	1	166	1	0	0	0	0	1	0	0	0	17973	1145	40	1	475	1	ZNF543	19	57839291	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	197042	57839291	1289692	1226	91768											
ZNF211	10520	broad.mit.edu	37	chr19	58153212	58153212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacaggggaaaggccttAtgtgtgtggggaatgtggga	17	6	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:58153212A>G	uc002qpq.2	+	3	1538	c.1358A>G	c.(1357-1359)TAT>TGT	p.Y453C	ZNF211_uc010yhb.1_Missense_Mutation_p.Y457C|ZNF211_uc002qpp.2_Missense_Mutation_p.Y466C|ZNF211_uc002qpr.2_Missense_Mutation_p.Y517C|ZNF211_uc002qps.2_Missense_Mutation_p.Y518C|ZNF211_uc002qpt.2_Missense_Mutation_p.Y465C|ZNF211_uc010yhc.1_Missense_Mutation_p.Y465C|ZNF211_uc010yhd.1_Missense_Mutation_p.Y392C|ZNF211_uc010yhe.1_Missense_Mutation_p.Y444C	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	453	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		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)		GAAAGGCCTTATGTGTGTGGG	0.468													G	58153212	A	G	58153212	3	3	166	1	0	0	0	0	1	0	0	0	17764	449	16	3	1411	3	ZNF211	19	58153212	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	313921	58153212	975771	1227	91769											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189782	58189782	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgtccctatggtgatgGgagcagggtgtatctctcaa	14	7	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:58189782G>T	uc002qpu.2	+	5	1508	c.811G>T	c.(811-813)GGA>TGA	p.G271*		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	271					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		TATGGTGATGGGAGCAGGGTG	0.493													T	58189782	G	T	58189782	4	4	166	1	0	0	0	0	0	1	0	0	18234	1233	43	5	821	5	ZSCAN4	19	58189782	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	36570	58189782	939201	1228	91770											
C19orf18	147685	broad.mit.edu	37	chr19	58483842	58483842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttacctttattcctcAggaatttcatggggttcgta	9	8	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:58483842A>G	uc002qqv.2	-	3	361	c.257T>C	c.(256-258)CTG>CCG	p.L86P		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	86	Extracellular (Potential).					integral to membrane				ovary(1)	1		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;0.017)		TTTATTCCTCAGGAATTTCAT	0.498													G	58483842	A	G	58483842	3	3	166	1	0	0	0	0	1	0	0	0	1910	188	7	3	406	3	C19orf18	19	58483842	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	294060	58483842	645141	1229	91771											
SLC27A5	10998	broad.mit.edu	37	chr19	59011987	59011987	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccagatccgaataggaccGaagcgctgctggaaggtctc	12	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:59011987G>A	uc002qtc.2	-	5	1379	c.1269C>T	c.(1267-1269)TTC>TTT	p.F423F	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	423	Cytoplasmic (Probable).				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				0		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)		GAATAGGACCGAAGCGCTGCT	0.592													A	59011987	G	A	59011987	2	1	166	1	0	0	0	0	0	0	0	1	14529	1049	37	1		1	SLC27A5	19	59011987	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	528145	59011987	116996	1230	91772											
SLC27A5	10998	broad.mit.edu	37	chr19	59022708	59022708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcccccggccatgcggGttgatccaggctgttgggca	15	13	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:59022708G>T	uc002qtc.2	-	1	725	c.615C>A	c.(613-615)AAC>AAA	p.N205K		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	205	Cytoplasmic (Probable).				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				0		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)		GGCCATGCGGGTTGATCCAGG	0.677													T	59022708	G	T	59022708	3	4	166	1	0	0	0	0	1	0	0	0	14529	1252	44	5	1497	5	SLC27A5	19	59022708	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	10721	59022708	106275	1231	91773											
RSPO4	343637	broad.mit.edu	37	chr20	947858	947858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggccaaagtgcccggcGggcaggtgggcagacacttc	18	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:947858G>A	uc002wej.2	-	3	465	c.368C>T	c.(367-369)CCG>CTG	p.P123L	RSPO4_uc002wek.2_Missense_Mutation_p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	123	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						AGTGCCCGGCGGGCAGGTGGG	0.647													A	947858	G	A	947858	3	1	166	1	0	0	0	0	1	0	0	0	13712	1116	39	1	348	1	RSPO4	20	947858	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08		947858	62077662	1232	91774											
SDCBP2	27111	broad.mit.edu	37	chr20	1294021	1294021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagcccggtcttgccgCgctcgtccttgcacaggtgg	13	16	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:1294021C>T	uc002wev.3	-	5	476	c.347G>A	c.(346-348)CGC>CAC	p.R116H	SDCBP2_uc002weu.3_Missense_Mutation_p.R31H|SDCBP2_uc010zpq.1_Missense_Mutation_p.R116H	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	116	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						GGTCTTGCCGCGCTCGTCCTT	0.711													T	1294021	C	T	1294021	3	4	166	1	0	0	0	0	1	0	0	0	13956	768	27	1	551	1	SDCBP2	20	1294021	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	346163	1294021	61731499	1233	91775											
CHGB	1114	broad.mit.edu	37	chr20	5904507	5904508	+	Frame_Shift_Ins	INS	-	-	A													caactatgactggtgggagaINSaaaagcccttctctgaggat							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:5904506_5904507G>GA	uc002wmg.3	+	3	2022_2023	c.1716_1717G>GA	c.(1714-1719)gagaaafs	p.E572fs	CHGB_uc010zqz.2_Frame_Shift_Ins_p.E255fs	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	572						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACTGGTGGGAGAAAAAGCCCTT	0.485													A	5904508	-	A	5904507	7	5	166	1	0	1	1	0	0	0	0	0	3339	247	9	0	1731	0	CHGB	20	5904507	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	4610486	5904507	57121013	1234	91776											
TMX4	56255	broad.mit.edu	37	chr20	7980484	7980484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattcctgggccacgataaCggcggaatatcccatccttt	9	12	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:7980484C>T	uc002wmx.1	-	4	495	c.362G>A	c.(361-363)CGT>CAT	p.R121H		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	121	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						GCCACGATAACGGCGGAATAT	0.383													T	7980484	C	T	7980484	3	4	166	1	0	0	0	0	1	0	0	0	16266	536	19	1	707	1	TMX4	20	7980484	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2075977	7980484	55045036	1235	91777											
PLCB1	23236	broad.mit.edu	37	chr20	8608995	8608995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgggcgcctggagcagCgcatgatcacagtggtgtat	14	10	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:8608995C>T	uc002wnb.2	+	4	304	c.301C>T	c.(301-303)CGC>TGC	p.R101C	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.R101C|PLCB1_uc002wmz.1_Missense_Mutation_p.R101C|PLCB1_uc002wna.2_Missense_Mutation_p.R101C|PLCB1_uc002wnc.1_5'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	101					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CCTGGAGCAGCGCATGATCAC	0.458													T	8608995	C	T	8608995	3	4	166	1	0	0	0	0	1	0	0	0	12027	768	27	1	315	1	PLCB1	20	8608995	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	628511	8608995	54416525	1236	91778											
RRBP1	6238	broad.mit.edu	37	chr20	17610604	17610604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactctccctgtgggaCgcctggggacgggcagggga	16	13	2	0	rs138539631	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:17610604C>T	uc010gcm.1	-	4	429	c.71G>A	c.(70-72)CGT>CAT	p.R24H	RRBP1_uc002wpu.2_Silent_p.A212A|RRBP1_uc002wpv.1_Silent_p.A438A|RRBP1_uc002wpw.1_Silent_p.A438A|RRBP1_uc010gcl.1_Silent_p.A212A			Q9P2E9	RRBP1_HUMAN	Homo sapiens mRNA for KIAA1398 protein, partial cds.	Error:Variant_position_missing_in_Q9P2E9_after_alignment					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCCTGTGGGACGCCTGGGGAC	0.687													T	17610604	C	T	17610604	3	4	166	1	0	0	0	0	1	0	0	0	13678	523	19	1	1687	1	RRBP1	20	17610604	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	9001609	17610604	45414916	1237	91779											
SEC23B	10483	broad.mit.edu	37	chr20	18511337	18511337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacctagaggctacatggtaAtgggagattctttcaacact	9	8	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:18511337A>T	uc002wqz.1	+	10	1566	c.1123A>T	c.(1123-1125)ATG>TTG	p.M375L	SEC23B_uc002wra.1_Missense_Mutation_p.M375L|SEC23B_uc002wrb.1_Missense_Mutation_p.M375L|SEC23B_uc010zsb.1_Missense_Mutation_p.M357L|SEC23B_uc002wrc.1_Missense_Mutation_p.M375L	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	375					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			ovary(1)	1						CTACATGGTAATGGGAGATTC	0.333													T	18511337	A	T	18511337	3	4	166	1	0	0	0	0	1	0	0	0	13992	101	4	5	1157	5	SEC23B	20	18511337	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	900733	18511337	44514183	1238	91780											
PAX1	5075	broad.mit.edu	37	chr20	21687581	21687581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcccgtgtcgcccacgggCgccaagatgggcagccaccc	13	17	0	1	rs140128849		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:21687581C>T	uc002wsj.2	+	2	846	c.792C>T	c.(790-792)GGC>GGT	p.G264G	PAX1_uc010zsl.1_Silent_p.G264G|PAX1_uc010zsm.1_Silent_p.G240G	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	264					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CGCCCACGGGCGCCAAGATGG	0.692													T	21687581	C	T	21687581	2	4	166	1	0	0	0	0	0	0	0	1	11478	755	27	1		1	PAX1	20	21687581	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	3176244	21687581	41337939	1239	91781											
TPX2	22974	broad.mit.edu	37	chr20	30381814	30381814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaaaataaaagaacTgcagaaaggggaggtaggtg	16	2	0	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:30381814T>C	uc002wwp.1	+	14	2371	c.1673T>C	c.(1672-1674)CTG>CCG	p.L558P	TPX2_uc010gdv.1_Missense_Mutation_p.L594P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	558					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATAAAAGAACTGCAGAAAGGG	0.358													C	30381814	T	C	30381814	3	2	166	1	0	0	0	0	1	0	0	0	16429	1580	55	3	1719	3	TPX2	20	30381814	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	8694233	30381814	32643706	1240	91782											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgccggctgcaggcgccGcctgcagctgaaccccacgc	12	20	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:33147545G>A	uc002xaq.1	+	4	363	c.209G>A	c.(208-210)CGC>CAC	p.R70H	MAP1LC3A_uc002xap.1_Missense_Mutation_p.R74H	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding				0						TGCAGGCGCCGCCTGCAGCTG	0.627													A	33147545	G	A	33147545	3	1	166	1	0	0	0	0	1	0	0	0	9230	1087	38	1	279	1	MAP1LC3A	20	33147545	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2765731	33147545	29877975	1241	91783											
MMP24	10893	broad.mit.edu	37	chr20	33862135	33862135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaccagaaactgagcgTggagccaggctacccgcgca	12	13	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:33862135T>C	uc002xbu.2	+	9	1664	c.1661T>C	c.(1660-1662)GTG>GCG	p.V554A	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	554	Extracellular (Potential).|Hemopexin-like 4.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAACTGAGCGTGGAGCCAGGC	0.587													C	33862135	T	C	33862135	3	2	166	1	0	0	0	0	1	0	0	0	9661	1696	59	3	1445	3	MMP24	20	33862135	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	714590	33862135	29163385	1242	91784											
GDF5	8200	broad.mit.edu	37	chr20	34022366	34022366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccgtccaggcctggcaCggagcgcacatccagcaagg	13	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:34022366C>T	uc002xck.1	-	2	1166	c.847G>A	c.(847-849)GTG>ATG	p.V283M	GDF5_uc010gfc.1_Missense_Mutation_p.V283M|uc002xcj.2_Silent_p.H259H|GDF5_uc010zvc.1_Missense_Mutation_p.V283M	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	283					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			AGGCCTGGCACGGAGCGCACA	0.687													T	34022366	C	T	34022366	3	4	166	1	0	0	0	0	1	0	0	0	6316	536	19	1	662	1	GDF5	20	34022366	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	160231	34022366	29003154	1243	91785											
C20orf118	140711	broad.mit.edu	37	chr20	35507503	35507503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtctggtcttctgcacGtcaagggacggtttcagcct	13	10	5	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:35507503G>A	uc002xgg.1	+	3	257	c.249G>A	c.(247-249)ACG>ACA	p.T83T		NM_080628	NP_542195	A0PJX2	CT118_HUMAN	hypothetical protein LOC140711	83	TLD.										0		Myeloproliferative disorder(115;0.00874)				TCTTCTGCACGTCAAGGGACG	0.632													A	35507503	G	A	35507503	2	1	166	1	0	0	0	0	0	0	0	1	2084	1132	40	1		1	C20orf118	20	35507503	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1485137	35507503	27518017	1244	91786											
TGM2	7052	broad.mit.edu	37	chr20	36760853	36760853	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaggttggactccgtAaggcagtcacggtatttctc	12	8	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:36760853A>G	uc002xhr.2	-	11	1765	c.1665T>C	c.(1663-1665)CTT>CTC	p.L555L	TGM2_uc002xhq.2_Silent_p.L156L|TGM2_uc010zvx.1_Silent_p.L474L|TGM2_uc010zvy.1_Silent_p.L495L|TGM2_uc002xhs.1_Silent_p.L531L	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	555					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGGACTCCGTAAGGCAGTCAC	0.542													G	36760853	A	G	36760853	2	3	166	1	0	0	0	0	0	0	0	1	15827	349	13	3		3	TGM2	20	36760853	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	1253350	36760853	26264667	1245	91787											
PTPRT	11122	broad.mit.edu	37	chr20	41101154	41101154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactgcagggtcagctgcCgggctctgatgtctacgatt	12	13	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:41101154C>T	uc002xkg.2	-	8	1386	c.1202G>A	c.(1201-1203)CGG>CAG	p.R401Q	PTPRT_uc010ggj.2_Missense_Mutation_p.R401Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	401	Extracellular (Potential).|Fibronectin type-III 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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTCAGCTGCCGGGCTCTGAT	0.567													T	41101154	C	T	41101154	3	4	166	1	0	0	0	0	1	0	0	0	12812	652	23	1	3280	1	PTPRT	20	41101154	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4340301	41101154	21924366	1246	91788											
SFRS6	6431	broad.mit.edu	37	chr20	42088725	42088725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcggatgcccacaaggaacGaacaaatgagggtgtaattg	13	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:42088725G>A	uc010zwg.1	+	4	604	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	SFRS6_uc002xki.2_Missense_Mutation_p.R16Q|SFRS6_uc002xkk.2_Missense_Mutation_p.R145Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	145	RRM 2.		R -> Q (in a colorectal cancer sample; somatic mutation).		mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R145Q(1)			0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAAGGAACGAACAAATGAG	0.413													A	42088725	G	A	42088725	3	1	166	1	0	0	0	0	1	0	0	0	14181	1058	37	1	448	1	SFRS6	20	42088725	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	987571	42088725	20936795	1247	91789											
HNF4A	3172	broad.mit.edu	37	chr20	43058237	43058237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagctcctgccgggagccGtcgccacaatcgtcaagccc	10	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:43058237G>A	uc002xma.2	+	10	1446	c.1357G>A	c.(1357-1359)GTC>ATC	p.V453I	HNF4A_uc002xlu.2_Missense_Mutation_p.V421I|HNF4A_uc002xlv.2_Missense_Mutation_p.V431I|HNF4A_uc002xlz.2_Missense_Mutation_p.V443I|HNF4A_uc010ggq.2_Missense_Mutation_p.V446I	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	453			V -> I.		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			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGGGAGCCGTCGCCACAAT	0.637													A	43058237	G	A	43058237	3	1	166	1	0	0	0	0	1	0	0	0	7253	1145	40	1	1573	1	HNF4A	20	43058237	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	969512	43058237	19967283	1248	91790											
TP53RK	112858	broad.mit.edu	37	chr20	45315634	45315634	+	Frame_Shift_Del	DEL	G	G	-													cacaatgttcagctgttccaGggggggtttcaggagcatgt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:45315633_45315633AG>A	uc002xsk.3	-	1	744	c.521_521CT>T	c.(520-522)ctgfs	p.L174fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	174	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(2)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTGTTCCAGGGGGGGTTT	0.493													-	45315634	G	-	45315634	7	5	166	1	0	1	0	1	0	0	0	0	16387	991	35	0	245	0	TP53RK	20	45315634	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	2257397	45315634	17709886	1249	91791											
ZMYND8	23613	broad.mit.edu	37	chr20	45867695	45867695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtctccttcggtaaaagCggcctctgctttttcactgg	10	12	3	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:45867695C>T	uc002xta.1	-	15	2666	c.2412G>A	c.(2410-2412)CCG>CCA	p.P804P	ZMYND8_uc010ghq.1_Silent_p.P481P|ZMYND8_uc010ghr.1_Silent_p.P779P|ZMYND8_uc002xst.1_Silent_p.P732P|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Silent_p.P732P|ZMYND8_uc002xsw.1_Silent_p.P556P|ZMYND8_uc002xsx.1_Silent_p.P556P|ZMYND8_uc002xsy.1_Silent_p.P779P|ZMYND8_uc002xsz.1_Silent_p.P741P|ZMYND8_uc010zxy.1_Silent_p.P831P|ZMYND8_uc002xtb.1_Silent_p.P824P|ZMYND8_uc002xss.2_Silent_p.P804P|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Silent_p.P824P|ZMYND8_uc002xtd.1_Silent_p.P799P|ZMYND8_uc002xte.1_Silent_p.P804P|ZMYND8_uc010zya.1_Silent_p.P804P|ZMYND8_uc002xtf.1_Silent_p.P824P|ZMYND8_uc002xtg.2_Silent_p.P798P|ZMYND8_uc010ghs.1_Silent_p.P798P|ZMYND8_uc002xsr.1_5'UTR	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	804							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGGTAAAAGCGGCCTCTGCT	0.627													T	45867695	C	T	45867695	2	4	166	1	0	0	0	0	0	0	0	1	17708	755	27	1		1	ZMYND8	20	45867695	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	552061	45867695	17157825	1250	91792											
PREX1	57580	broad.mit.edu	37	chr20	47270000	47270000	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgaccttcagaatgcactGaccagcacagagccctgcag	9	13	1	4			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:47270000G>A	uc002xtw.1	-	20	2268	c.2245C>T	c.(2245-2247)CAG>TAG	p.Q749*	PREX1_uc002xtv.1_Nonsense_Mutation_p.Q46*	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	749					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGAATGCACTGACCAGCACAG	0.597													A	47270000	G	A	47270000	4	1	166	1	0	0	0	0	0	1	0	0	12476	1299	45	4	2818	4	PREX1	20	47270000	Nonsense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1402305	47270000	15755520	1251	91793											
STAU1	6780	broad.mit.edu	37	chr20	47739654	47739654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaaactccctgcggcgcGggaggcctcgctctgtgagg	14	14	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:47739654G>A	uc002xud.2	-	8	1352	c.941C>T	c.(940-942)CCG>CTG	p.P314L	STAU1_uc002xua.2_Missense_Mutation_p.P233L|STAU1_uc002xub.2_Missense_Mutation_p.P239L|STAU1_uc002xuc.2_Missense_Mutation_p.P233L|STAU1_uc002xue.2_Missense_Mutation_p.P233L|STAU1_uc002xuf.2_Missense_Mutation_p.P239L|STAU1_uc002xug.2_Missense_Mutation_p.P314L	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	314	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCTGCGGCGCGGGAGGCCTCG	0.617													A	47739654	G	A	47739654	3	1	166	1	0	0	0	0	1	0	0	0	15271	1116	39	1	820	1	STAU1	20	47739654	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	469654	47739654	15285866	1252	91794											
KCNB1	3745	broad.mit.edu	37	chr20	47990503	47990503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggccatcttattgtacaTgtcttccaactgctgaacgt	7	11	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:47990503T>C	uc002xur.1	-	2	1758	c.1594A>G	c.(1594-1596)ATG>GTG	p.M532V	KCNB1_uc002xus.1_Missense_Mutation_p.M532V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	532	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTATTGTACATGTCTTCCAAC	0.468													C	47990503	T	C	47990503	3	2	166	1	0	0	0	0	1	0	0	0	8012	1464	51	3	986	3	KCNB1	20	47990503	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	250849	47990503	15035017	1253	91795											
ATP9A	10079	broad.mit.edu	37	chr20	50244187	50244187	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagacttctttgccaccacGagcacccgcagcccttctcg	8	17	2	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:50244187G>A	uc002xwg.1	-	17	1797	c.1797C>T	c.(1795-1797)CTC>CTT	p.L599L	ATP9A_uc010gih.1_Silent_p.L463L|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	599	Cytoplasmic (Potential).				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			ovary(4)	4						TTGCCACCACGAGCACCCGCA	0.433													A	50244187	G	A	50244187	2	1	166	1	0	0	0	0	0	0	0	1	1198	1045	37	1		1	ATP9A	20	50244187	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2253684	50244187	12781333	1254	91796											
DOK5	55816	broad.mit.edu	37	chr20	53226972	53226972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatctttcagacccgagaCggggaggccatctatcagaa	10	10	4	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:53226972C>T	uc002xwy.2	+	6	865	c.645C>T	c.(643-645)GAC>GAT	p.D215D	DOK5_uc010gin.2_Silent_p.D107D|DOK5_uc002xwz.2_Silent_p.D77D	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	215	IRS-type PTB.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGACCCGAGACGGGGAGGCCA	0.493													T	53226972	C	T	53226972	2	4	166	1	0	0	0	0	0	0	0	1	4700	535	19	1		1	DOK5	20	53226972	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2982785	53226972	9798548	1255	91797											
CASS4	57091	broad.mit.edu	37	chr20	55012542	55012542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagatgaggagttgggCggaggggccccagcccccta	17	11	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:55012542C>T	uc002xxp.2	+	3	584	c.359C>T	c.(358-360)GCG>GTG	p.A120V	CASS4_uc002xxq.3_Missense_Mutation_p.A120V|CASS4_uc002xxr.2_Missense_Mutation_p.A120V|CASS4_uc010zze.1_Intron|CASS4_uc010gio.2_Missense_Mutation_p.A120V	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	120					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						AGGAGTTGGGCGGAGGGGCCC	0.587													T	55012542	C	T	55012542	3	4	166	1	0	0	0	0	1	0	0	0	2683	768	27	1	365	1	CASS4	20	55012542	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1785570	55012542	8012978	1256	91798											
CTCFL	140690	broad.mit.edu	37	chr20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgttaacatggttccGcagcagagtgaccgtacgga	15	8	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:56094287G>A	uc010gix.1	-	3	1563	c.901C>T	c.(901-903)CGG>TGG	p.R301W	CTCFL_uc010giw.1_Missense_Mutation_p.R301W|CTCFL_uc002xym.2_Missense_Mutation_p.R301W|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.R301W|CTCFL_uc010gjb.1_Missense_Mutation_p.R301W|CTCFL_uc010gjc.1_Missense_Mutation_p.R301W|CTCFL_uc010gjd.1_Missense_Mutation_p.R301W|CTCFL_uc010gje.2_Missense_Mutation_p.R301W|CTCFL_uc010gjf.2_Missense_Mutation_p.R96W|CTCFL_uc010gjg.2_Missense_Mutation_p.R33W|CTCFL_uc010gjh.1_Missense_Mutation_p.R301W|CTCFL_uc010gji.1_Missense_Mutation_p.R96W|CTCFL_uc010gjj.1_Missense_Mutation_p.R301W|CTCFL_uc010gjk.1_Missense_Mutation_p.R301W|CTCFL_uc010gjl.1_Missense_Mutation_p.R301W	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	301	C2H2-type 2.				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			ovary(2)|large_intestine(1)|skin(1)	4	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)			ACATGGTTCCGCAGCAGAGTG	0.453													A	56094287	G	A	56094287	3	1	166	1	0	0	0	0	1	0	0	0	4001	1086	38	1	1122	1	CTCFL	20	56094287	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1081745	56094287	6931233	1257	91799											
SYCP2	10388	broad.mit.edu	37	chr20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-													tttgtcaagcatagcattcaTtttttttataatctagaaaa							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:58490592_58490592AT>A	uc002yaz.3	-	7	666	c.527_527AT>T	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					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)			CATAGCATTCATTTTTTTTAT	0.284													-	58490593	T	-	58490593	7	5	166	1	0	1	0	1	0	0	0	0	15429	1493	52	0	4214	0	SYCP2	20	58490593	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2396306	58490593	4534927	1258	91800											
TAF4	6874	broad.mit.edu	37	chr20	60575303	60575303	+	Frame_Shift_Del	DEL	T	T	-													tgtaattccgttataccatgTtttttacctaaaggtcaggc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:60575302_60575302GT>G	uc002ybs.3	-	10	2665	c.2665_2665AC>C	c.(2665-2667)catfs	p.H889fs		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	889					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	MLL1 complex|cytoplasm|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)			GTTATACCATGTTTTTTACCT	0.353													-	60575303	T	-	60575303	7	5	166	1	0	1	0	1	0	0	0	0	15523	1722	60	0	613	0	TAF4	20	60575303	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2084710	60575303	2450217	1259	91801											
LSM14B	149986	broad.mit.edu	37	chr20	60701385	60701385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggttctgcctccgcctCgcccttccagccgcacgtgc	10	20	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:60701385C>T	uc010gjy.1	+	3	523	c.317C>T	c.(316-318)TCG>TTG	p.S106L	LSM14B_uc002ybt.2_Missense_Mutation_p.S106L|LSM14B_uc010gjx.1_Missense_Mutation_p.S132L|LSM14B_uc002ybv.2_Missense_Mutation_p.S106L|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	106					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCCTCCGCCTCGCCCTTCCAG	0.662													T	60701385	C	T	60701385	3	4	166	1	0	0	0	0	1	0	0	0	9055	893	31	1	327	1	LSM14B	20	60701385	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	126082	60701385	2324135	1260	91802											
LAMA5	3911	broad.mit.edu	37	chr20	60908501	60908501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagctgcaggagcgccgCctcgtagtatgcgctaggca	14	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:60908501C>T	uc002ycq.2	-	25	3125	c.3058G>A	c.(3058-3060)GCG>ACG	p.A1020T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1020	Domain IV 1 (domain IV B).				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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAGCGCCGCCTCGTAGTAT	0.687													T	60908501	C	T	60908501	3	4	166	1	0	0	0	0	1	0	0	0	8609	739	26	2	8253	2	LAMA5	20	60908501	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	207116	60908501	2117019	1261	91803											
RTEL1	51750	broad.mit.edu	37	chr20	62321132	62321132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggagtggtaccggcaGcaggcgtccagggctgtgaa	19	9	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62321132G>A	uc002yfu.1	+	24	2398	c.2055G>A	c.(2053-2055)CAG>CAA	p.Q685Q	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.Q685Q|RTEL1_uc011abd.1_Silent_p.Q709Q|RTEL1_uc011abe.1_Silent_p.Q462Q|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	685					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				0	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)			GGTACCGGCAGCAGGCGTCCA	0.697													A	62321132	G	A	62321132	2	1	166	1	0	0	0	0	0	0	0	1	13720	962	34	2		2	RTEL1	20	62321132	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1412631	62321132	704388	1262	91804											
TPD52L2	7165	broad.mit.edu	37	chr20	62520579	62520579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgtttgaggaccgagtTgggaccataaaggtaattgt	13	5	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62520579T>C	uc002yhc.2	+	6	642	c.513T>C	c.(511-513)GTT>GTC	p.V171V	TPD52L2_uc002ygy.2_Silent_p.V194V|TPD52L2_uc002ygz.2_Silent_p.V185V|TPD52L2_uc002yha.2_Silent_p.V174V|TPD52L2_uc002yhb.2_Silent_p.V165V|TPD52L2_uc002yhd.2_Silent_p.V151V|TPD52L2_uc011abk.1_Silent_p.V122V|TPD52L2_uc011abl.1_Silent_p.V128V|TPD52L2_uc002yhe.2_Silent_p.V70V	NM_003288	NP_003279	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform e	171					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)|skin(1)	2	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AGGACCGAGTTGGGACCATAA	0.438													C	62520579	T	C	62520579	2	2	166	1	0	0	0	0	0	0	0	1	16396	1799	63	3		3	TPD52L2	20	62520579	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	199447	62520579	504941	1263	91805											
NPBWR2	2832	broad.mit.edu	37	chr20	62737475	62737475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcacggcccgcagcctgCgcaggaggtctgtgtagagc	16	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62737475C>T	uc011abt.1	-	1	710	c.710G>A	c.(709-711)CGC>CAC	p.R237H		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	237	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCGCAGCCTGCGCAGGAGGTC	0.667													T	62737475	C	T	62737475	3	4	166	1	0	0	0	0	1	0	0	0	10569	768	27	1	294	1	NPBWR2	20	62737475	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	216896	62737475	288045	1264	91806											
MYT1	4661	broad.mit.edu	37	chr20	62836917	62836917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccagtttacagagctGccccctggccaagaagagga	10	15	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62836917G>A	uc002yii.2	+	6	525	c.161G>A	c.(160-162)TGC>TAC	p.C54Y	MYT1_uc002yih.2_Missense_Mutation_p.C54Y|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	54	C2HC-type 1.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTACAGAGCTGCCCCCTGGCC	0.642													A	62836917	G	A	62836917	3	1	166	1	0	0	0	0	1	0	0	0	10106	1319	46	2	175	2	MYT1	20	62836917	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	99442	62836917	188603	1265	91807											
BACH1	571	broad.mit.edu	37	chr21	30698948	30698948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgcctgggaggagtccCggagtgtagagatttgcagg	17	6	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:30698948C>T	uc002ynj.2	+	3	918	c.803C>T	c.(802-804)CCG>CTG	p.P268L	BACH1_uc002ynk.2_Missense_Mutation_p.P268L|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	268						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						GGAGGAGTCCCGGAGTGTAGA	0.443													T	30698948	C	T	30698948	3	4	166	1	0	0	0	0	1	0	0	0	1283	652	23	1	809	1	BACH1	21	30698948	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08		30698948	17430947	1266	91808											
HUNK	30811	broad.mit.edu	37	chr21	33246192	33246192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcggcagcaggaagctgGgcgagggctcctttgccaag	15	11	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:33246192G>T	uc002yph.2	+	1	565	c.205G>T	c.(205-207)GGC>TGC	p.G69C		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	69	ATP (By similarity).|Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CAGGAAGCTGGGCGAGGGCTC	0.711													T	33246192	G	T	33246192	3	4	166	1	0	0	0	0	1	0	0	0	7458	1232	43	5	207	5	HUNK	21	33246192	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2547244	33246192	14883703	1267	91809											
PCP4	5121	broad.mit.edu	37	chr21	41270416	41270416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagcgacaaggtgctgggGcaaccaatggaaaagacaag	13	7	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:41270416G>A	uc002yyp.2	+	2	106	c.25G>A	c.(25-27)GCA>ACA	p.A9T		NM_006198	NP_006189	P48539	PCP4_HUMAN	Purkinje cell protein 4	9				A -> P (in Ref. 1; CAA63724).	central nervous system development	cytosol|nucleus				large_intestine(1)	1		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AGGTGCTGGGGCAACCAATGG	0.393													A	41270416	G	A	41270416	3	1	166	1	0	0	0	0	1	0	0	0	11598	1203	42	2	31	2	PCP4	21	41270416	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	8024224	41270416	6859479	1268	91810											
DSCAM	1826	broad.mit.edu	37	chr21	41516548	41516548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaaacctcactgtccccGctggtgtcgacactgataat	9	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:41516548G>A	uc002yyq.1	-	17	3581	c.3129C>T	c.(3127-3129)AGC>AGT	p.S1043S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1043	Fibronectin type-III 2.|Extracellular (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTGTCCCCGCTGGTGTCGA	0.522													A	41516548	G	A	41516548	2	1	166	1	0	0	0	0	0	0	0	1	4768	1078	38	1		1	DSCAM	21	41516548	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	246132	41516548	6613347	1269	91811											
FAM3B	54097	broad.mit.edu	37	chr21	42718974	42718974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacaaagtttattcagagTgctgctccaaaatccctgct	7	10	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:42718974T>C	uc002yzb.1	+	6	578	c.432T>C	c.(430-432)AGT>AGC	p.S144S	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.S96S|FAM3B_uc002yzd.1_Silent_p.S167S	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	144					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TTATTCAGAGTGCTGCTCCAA	0.517													C	42718974	T	C	42718974	2	2	166	1	0	0	0	0	0	0	0	1	5557	1693	59	3		3	FAM3B	21	42718974	Silent	SNP	T	TCGA-CG-4306-01A-01D-1158-08	1202426	42718974	5410921	1270	91812											
PDE9A	5152	broad.mit.edu	37	chr21	44182210	44182210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtaccagatcaatgcccGcacagagctggcggtccgct	12	14	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:44182210G>A	uc002zbm.2	+	14	1166	c.1103G>A	c.(1102-1104)CGC>CAC	p.R368H	PDE9A_uc002zbn.2_Missense_Mutation_p.R241H|PDE9A_uc002zbo.2_Missense_Mutation_p.R315H|PDE9A_uc002zbp.2_Missense_Mutation_p.R161H|PDE9A_uc002zbq.2_Missense_Mutation_p.R266H|PDE9A_uc002zbs.2_Missense_Mutation_p.R161H|PDE9A_uc002zbr.2_Missense_Mutation_p.R161H|PDE9A_uc002zbt.2_Missense_Mutation_p.R240H|PDE9A_uc002zbu.2_Missense_Mutation_p.R234H|PDE9A_uc002zbv.2_Missense_Mutation_p.R208H|PDE9A_uc002zbw.2_Missense_Mutation_p.R151H|PDE9A_uc002zbx.2_Missense_Mutation_p.R308H|PDE9A_uc002zby.2_Missense_Mutation_p.R151H|PDE9A_uc002zbz.2_Missense_Mutation_p.R260H|PDE9A_uc002zca.2_Missense_Mutation_p.R327H|PDE9A_uc002zcb.2_Missense_Mutation_p.R342H|PDE9A_uc002zcc.2_Missense_Mutation_p.R267H|PDE9A_uc002zcd.2_Missense_Mutation_p.R282H|PDE9A_uc002zce.2_Missense_Mutation_p.R301H|PDE9A_uc002zcf.2_Missense_Mutation_p.R161H|PDE9A_uc002zcg.2_Missense_Mutation_p.R161H|PDE9A_uc002zch.2_Missense_Mutation_p.R151H|PDE9A_uc010gpf.1_Missense_Mutation_p.R161H	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	368	Catalytic (By similarity).				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			ovary(1)|skin(1)	2						ATCAATGCCCGCACAGAGCTG	0.617													A	44182210	G	A	44182210	3	1	166	1	0	0	0	0	1	0	0	0	11655	1087	38	1	1237	1	PDE9A	21	44182210	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1463236	44182210	3947685	1271	91813											
PKNOX1	5316	broad.mit.edu	37	chr21	44438317	44438317	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacagacattgtcgcctgggAcaattaggatccagaactcc	9	12	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:44438317A>T	uc002zcq.1	+	7	885	c.697A>T	c.(697-699)ACA>TCA	p.T233S	PKNOX1_uc002zcp.1_Missense_Mutation_p.T233S|PKNOX1_uc011aex.1_Missense_Mutation_p.T116S	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	233							sequence-specific DNA binding			large_intestine(2)	2						GTCGCCTGGGACAATTAGGAT	0.542													T	44438317	A	T	44438317	3	4	166	1	0	0	0	0	1	0	0	0	11982	275	10	5	719	5	PKNOX1	21	44438317	Missense_Mutation	SNP	A	TCGA-CG-4306-01A-01D-1158-08	256107	44438317	3691578	1272	91814											
MICAL3	57553	broad.mit.edu	37	chr22	18301213	18301213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctctgtcggacggggacCggggggttggcagggacaac	19	10	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:18301213C>T	uc002zng.3	-	26	4567	c.4214G>A	c.(4213-4215)CGG>CAG	p.R1405Q	MICAL3_uc011agl.1_Missense_Mutation_p.R1321Q|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1405	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GGACGGGGACCGGGGGGTTGG	0.667													T	18301213	C	T	18301213	3	4	166	1	0	0	0	0	1	0	0	0	9571	652	23	1	1822	1	MICAL3	22	18301213	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08		18301213	33003353	1273	91815											
TSSK2	23617	broad.mit.edu	37	chr22	19119120	19119120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcaactgtcaaccacGgctccatcatcaagacttac	6	15	3	1	rs141724999		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19119120G>A	uc002zow.2	+	1	800	c.208G>A	c.(208-210)GGC>AGC	p.G70S	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	70	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					TGTCAACCACGGCTCCATCAT	0.512													A	19119120	G	A	19119120	3	1	166	1	0	0	0	0	1	0	0	0	16666	1116	39	1	210	1	TSSK2	22	19119120	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	817907	19119120	32185446	1274	91816											
HIRA	7290	broad.mit.edu	37	chr22	19396104	19396104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattccagatcacaaccttcCcagaatcctgccctggaaca	5	15	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19396104C>A	uc002zpf.1	-	3	333	c.113G>T	c.(112-114)GGG>GTG	p.G38V	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.G38V|HIRA_uc010gro.1_5'UTR|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	38	WD 1.				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			ovary(1)	1	Colorectal(54;0.0993)					CACAACCTTCCCAGAATCCTG	0.408													A	19396104	C	A	19396104	3	1	166	1	0	0	0	0	1	0	0	0	7120	623	22	5	3032	5	HIRA	22	19396104	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	276984	19396104	31908462	1275	91817											
UFD1L	7353	broad.mit.edu	37	chr22	19463058	19463058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggacacagagaagcagCggtactgtgtggagaagcgg	17	7	0	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19463058C>T	uc002zpm.2	-	2	201	c.71G>A	c.(70-72)CGC>CAC	p.R24H	UFD1L_uc002zpo.2_Missense_Mutation_p.R24H|UFD1L_uc011agy.1_Missense_Mutation_p.R24H|UFD1L_uc002zpp.2_5'UTR|UFD1L_uc010grq.2_5'UTR	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	24					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					AGAGAAGCAGCGGTACTGTGT	0.438													T	19463058	C	T	19463058	3	4	166	1	0	0	0	0	1	0	0	0	16932	768	27	1	896	1	UFD1L	22	19463058	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	66954	19463058	31841508	1276	91818											
TXNRD2	10587	broad.mit.edu	37	chr22	19882971	19882972	+	Frame_Shift_Ins	INS	-	-	T													aaaggtgcccgtgtcctcctINStgccggtggtgctgtcctcc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19882970_19882971C>CT	uc021wlj.1	-	10	941_942	c.908_909G>AG	c.(907-909)aagfs	p.K303fs	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Frame_Shift_Ins_p.K302fs|TXNRD2_uc010grv.1_Frame_Shift_Ins_p.K303fs|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Frame_Shift_Ins_p.K271fs	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	303					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide 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)					CCGTGTCCTCCTTGCCGGTGGT	0.649													T	19882972	-	T	19882971	7	5	166	1	0	1	1	0	0	0	0	0	16805	1609	56	0	694	0	TXNRD2	22	19882971	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	419913	19882971	31421595	1277	91819											
TRMT2A	27037	broad.mit.edu	37	chr22	20103586	20103586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtttctgcagcacctgctCgcactccagctgcttccgct	8	16	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:20103586C>T	uc002zrk.1	-	3	789	c.574G>A	c.(574-576)GAG>AAG	p.E192K	TRMT2A_uc002zrl.1_Missense_Mutation_p.E192K|TRMT2A_uc002zrm.1_Silent_p.A12A|TRMT2A_uc002zrn.1_Missense_Mutation_p.E192K|TRMT2A_uc011ahk.1_Missense_Mutation_p.E192K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	192	Potential.				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						AGCACCTGCTCGCACTCCAGC	0.627													T	20103586	C	T	20103586	3	4	166	1	0	0	0	0	1	0	0	0	16562	893	31	1	1347	1	TRMT2A	22	20103586	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	220615	20103586	31200980	1278	91820											
AIFM3	150209	broad.mit.edu	37	chr22	21330537	21330537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgagaactaagaaggtcGtgttcaaggatggcttcaag	13	6	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:21330537G>A	uc002ztj.2	+	10	1059	c.841G>A	c.(841-843)GTG>ATG	p.V281M	AIFM3_uc002ztk.2_Missense_Mutation_p.V281M|AIFM3_uc002ztl.2_Missense_Mutation_p.V287M|AIFM3_uc011ahx.1_Missense_Mutation_p.V269M|AIFM3_uc002ztm.1_Missense_Mutation_p.V93M	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	281					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	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)			TAAGAAGGTCGTGTTCAAGGA	0.612													A	21330537	G	A	21330537	3	1	166	1	0	0	0	0	1	0	0	0	428	1145	40	1	893	1	AIFM3	22	21330537	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1226951	21330537	29974029	1279	91821											
P2RX6	9127	broad.mit.edu	37	chr22	21377631	21377631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatgaaccacaattcagcCcctactgtcccgtgttccgc	7	16	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:21377631C>A	uc010gsu.1	+	7	706	c.706C>A	c.(706-708)CCC>ACC	p.P236T	P2RX6_uc002ztz.2_Missense_Mutation_p.P210T|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	236	Extracellular (Potential).				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				0						ACAATTCAGCCCCTACTGTCC	0.597													A	21377631	C	A	21377631	3	1	166	1	0	0	0	0	1	0	0	0	11344	623	22	5	732	5	P2RX6	22	21377631	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	47094	21377631	29926935	1280	91822											
MAPK1	5594	broad.mit.edu	37	chr22	22153338	22153338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctggagccctgtaccaaCgtgtggccacatattctgtc	9	12	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:22153338C>T	uc002zvn.2	-	4	812	c.572G>A	c.(571-573)CGT>CAT	p.R191H	MAPK1_uc002zvo.2_Missense_Mutation_p.R191H|MAPK1_uc010gtk.1_Missense_Mutation_p.R191H	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	191	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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	CCTGTACCAACGTGTGGCCAC	0.428													T	22153338	C	T	22153338	3	4	166	1	0	0	0	0	1	0	0	0	9271	536	19	1	530	1	MAPK1	22	22153338	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	775707	22153338	29151228	1281	91823											
MYO18B	84700	broad.mit.edu	37	chr22	26423348	26423348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcaagacggttcacagCgttcaagcatccactttgaa	11	10	2	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:26423348C>T	uc003abz.1	+	43	7658	c.7408C>T	c.(7408-7410)CGT>TGT	p.R2470C	MYO18B_uc003aca.1_Missense_Mutation_p.R2351C|MYO18B_uc010guy.1_Missense_Mutation_p.R2352C|MYO18B_uc010guz.1_Missense_Mutation_p.R2350C|MYO18B_uc011aka.1_Missense_Mutation_p.R1624C|MYO18B_uc011akb.1_Missense_Mutation_p.R1983C|MYO18B_uc010gva.1_Missense_Mutation_p.R453C|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2470						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CGGTTCACAGCGTTCAAGCAT	0.552													T	26423348	C	T	26423348	3	4	166	1	0	0	0	0	1	0	0	0	10066	768	27	1	7574	1	MYO18B	22	26423348	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4270010	26423348	24881218	1282	91824											
SEZ6L	23544	broad.mit.edu	37	chr22	26761352	26761352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcggaggagtccctgGcatgtgacaacccagggctg	14	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:26761352G>A	uc003acb.2	+	13	2770	c.2614G>A	c.(2614-2616)GCA>ACA	p.A872T	SEZ6L_uc003acc.2_Missense_Mutation_p.A872T|SEZ6L_uc011akc.1_Missense_Mutation_p.A872T|SEZ6L_uc003acd.2_Missense_Mutation_p.A808T|SEZ6L_uc011akd.1_Missense_Mutation_p.A872T|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Missense_Mutation_p.A645T|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	872	Sushi 5.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGAGTCCCTGGCATGTGACAA	0.522													A	26761352	G	A	26761352	3	1	166	1	0	0	0	0	1	0	0	0	14143	1203	42	2	2664	2	SEZ6L	22	26761352	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	338004	26761352	24543214	1283	91825											
SEC14L3	266629	broad.mit.edu	37	chr22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagctgaccttcttggCgtggacaaagctataggtgt	13	7	1	2	rs142573310	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:30856091C>T	uc003ahy.2	-	12	1209	c.1120G>A	c.(1120-1122)GCC>ACC	p.A374T	SEC14L3_uc003ahz.2_Missense_Mutation_p.A297T|SEC14L3_uc003aia.2_Missense_Mutation_p.A315T|SEC14L3_uc003aib.2_Missense_Mutation_p.A315T	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	374	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527													T	30856091	C	T	30856091	3	4	166	1	0	0	0	0	1	0	0	0	13983	768	27	1	86	1	SEC14L3	22	30856091	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	4094739	30856091	20448475	1284	91826											
SEC14L4	284904	broad.mit.edu	37	chr22	30887696	30887696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaggaaaaccccaaaGccgatgtccccaccatctga	7	15	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:30887696G>A	uc003aid.2	-	11	1045	c.945C>T	c.(943-945)GGC>GGT	p.G315G	SEC14L4_uc011akz.1_Silent_p.G315G|SEC14L4_uc003aie.2_Silent_p.G300G|SEC14L4_uc003aif.2_Silent_p.G261G	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	315	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	AAACCCCAAAGCCGATGTCCC	0.622													A	30887696	G	A	30887696	2	1	166	1	0	0	0	0	0	0	0	1	13984	958	34	2		2	SEC14L4	22	30887696	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	31605	30887696	20416870	1285	91827											
OSBP2	23762	broad.mit.edu	37	chr22	31301891	31301891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgagcacgaggagggcGtagcgccaaccgacagccgc	14	14	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:31301891G>A	uc003aiy.1	+	13	2547	c.2443G>A	c.(2443-2445)GTA>ATA	p.V815I	OSBP2_uc011ala.1_Missense_Mutation_p.V649I|OSBP2_uc010gwc.1_Missense_Mutation_p.V642I|OSBP2_uc011alb.1_Missense_Mutation_p.V766I|OSBP2_uc003aiz.1_Missense_Mutation_p.V814I|OSBP2_uc003aja.1_Missense_Mutation_p.V448I|OSBP2_uc011alc.1_Missense_Mutation_p.V557I|OSBP2_uc003ajb.2_Missense_Mutation_p.V360I|OSBP2_uc011ald.1_Missense_Mutation_p.V359I|OSBP2_uc010gwd.1_Missense_Mutation_p.R298H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	815					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CGAGGAGGGCGTAGCGCCAAC	0.552													A	31301891	G	A	31301891	3	1	166	1	0	0	0	0	1	0	0	0	11274	1145	40	1	2493	1	OSBP2	22	31301891	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	414195	31301891	20002675	1286	91828											
MCM5	4174	broad.mit.edu	37	chr22	35817310	35817310	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcacgctgttgcccccacaGgcagctggaggccattgtgc	13	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:35817310G>T	uc003anu.3	+	15	1927	c.1833_splice	c.e15-1	p.R611_splice	MCM5_uc010gwr.2_Splice_Site_p.R420_splice|MCM5_uc003anv.3_Splice_Site_p.R568_splice|MCM5_uc003anw.1_Splice_Site_p.R395_splice	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5						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			ovary(1)	1						TGCCCCCACAGGCAGCTGGAG	0.632													T	35817310	G	T	35817310	5	4	166	1	0	0	0	0	0	0	1	0	9390	1014	35	5	1886	5	MCM5	22	35817310	Splice_Site	SNP	G	TCGA-CG-4306-01A-01D-1158-08	4515419	35817310	15487256	1287	91829											
ELFN2	114794	broad.mit.edu	37	chr22	37769658	37769658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctaaagaccttggcGctcttgatggaaccactgga	11	11	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:37769658G>A	uc003asq.3	-	3	2703	c.1917C>T	c.(1915-1917)AGC>AGT	p.S639S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	639	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AGACCTTGGCGCTCTTGATGG	0.652													A	37769658	G	A	37769658	2	1	166	1	0	0	0	0	0	0	0	1	5058	1078	38	1		1	ELFN2	22	37769658	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1952348	37769658	13534908	1288	91830											
GGA1	26088	broad.mit.edu	37	chr22	38019393	38019393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgaggaggtgaacaaCaatgtgaaactgctcacgga	12	9	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:38019393C>T	uc003atc.2	+	8	1034	c.669C>T	c.(667-669)AAC>AAT	p.N223N	GGA1_uc003atd.2_Silent_p.N223N|GGA1_uc003ate.2_Silent_p.N223N|GGA1_uc003atf.2_Silent_p.N150N	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	223	Interaction with ARF3.|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					AGGTGAACAACAATGTGAAAC	0.602											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38019393	C	T	38019393	2	4	166	1	0	0	0	0	0	0	0	1	6352	477	17	4		4	GGA1	22	38019393	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	249735	38019393	13285173	1289	91831											
PLA2G6	8398	broad.mit.edu	37	chr22	38528987	38528987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggagctggtgctgttcaCgttgcagccccgtttcagca	13	13	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:38528987C>T	uc003auy.1	-	7	1064	c.928G>A	c.(928-930)GTG>ATG	p.V310M	PLA2G6_uc003auz.1_Missense_Mutation_p.V310M|PLA2G6_uc003ava.1_Missense_Mutation_p.V310M|PLA2G6_uc003avb.2_Missense_Mutation_p.V310M|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.V275M	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	310	ANK 5.		V -> E (in NBIA2A).		cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GTGCTGTTCACGTTGCAGCCC	0.677													T	38528987	C	T	38528987	3	4	166	1	0	0	0	0	1	0	0	0	12008	536	19	1	1536	1	PLA2G6	22	38528987	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	509594	38528987	12775579	1290	91832											
TNRC6B	23112	broad.mit.edu	37	chr22	40676019	40676019	+	Frame_Shift_Del	DEL	T	T	-													gaagcctttcagataaaaaaTttgatgtggacaagcgagcg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:40676018_40676018AT>A	uc011aor.2	+	9	3493	c.3282_3282AT>A	c.(3280-3282)aaafs	p.K1094fs	TNRC6B_uc003aym.3_Frame_Shift_Del_p.K347fs|TNRC6B_uc003ayn.4_Frame_Shift_Del_p.K1041fs|TNRC6B_uc003ayo.3_Frame_Shift_Del_p.K898fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1094					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CAGATAAAAAATTTGATGTGG	0.433													-	40676019	T	-	40676019	7	5	166	1	0	1	0	1	0	0	0	0	16338	1493	52	0	3442	0	TNRC6B	22	40676019	Frame_Shift_Del	DEL	T	TCGA-CG-4306-01A-01D-1158-08	2147032	40676019	10628547	1291	91833											
SLC25A17	10478	broad.mit.edu	37	chr22	41195058	41195058	+	Frame_Shift_Del	DEL	A	A	-													agtctagctgtatccaggggAaaaaacactgtcattgctgt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:41195058delA	uc003azc.2	-	2	224	c.84delT	c.(82-84)TTTfs	p.F28fs	SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_5'UTR|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Frame_Shift_Del_p.F28fs	NM_006358	NP_006349	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier;	28	Solcar 1.|Helical; Name=1; (Potential).				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding				0						TATCCAGGGGAAAAAACACTG	0.348													-	41195058	A	-	41195058	7	5	166	1	0	1	0	1	0	0	0	0	14479	243	9	0	871	0	SLC25A17	22	41195058	Frame_Shift_Del	DEL	A	TCGA-CG-4306-01A-01D-1158-08	519039	41195058	10109508	1292	91834											
ST13	6767	broad.mit.edu	37	chr22	41226918	41226918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatctctcgctcttcacGttttcgctcatactttctcc	4	14	5	1	rs36082289		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:41226918G>A	uc003aze.2	-	9	867	c.724C>T	c.(724-726)CGT>TGT	p.R242C	ST13_uc011aow.1_Missense_Mutation_p.R232C	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	242							protein binding, bridging				0						CGCTCTTCACGTTTTCGCTCA	0.413													A	41226918	G	A	41226918	3	1	166	1	0	0	0	0	1	0	0	0	15209	1145	40	1	401	1	ST13	22	41226918	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	31860	41226918	10077648	1293	91835											
SCUBE1	80274	broad.mit.edu	37	chr22	43735243	43735243	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatccacgtcgactgacccTgtgggtaggggtgtgggggg	18	9	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:43735243T>C	uc003bdt.1	-	2	177	c.89_splice	c.e2-1	p.G30_splice	SCUBE1_uc003bdu.1_Splice_Site_p.G30_splice	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						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			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CGACTGACCCTGTGGGTAGGG	0.592													C	43735243	T	C	43735243	5	2	166	1	0	0	0	0	0	0	1	0	13944	1594	55	3	2963	3	SCUBE1	22	43735243	Splice_Site	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2508325	43735243	7569323	1294	91836											
MPPED1	758	broad.mit.edu	37	chr22	43898596	43898596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaacacggtgcagaggcGcgtccagccgcggttacatg	14	13	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:43898596G>A	uc011apv.1	+	6	1044	c.821G>A	c.(820-822)CGC>CAC	p.R274H	MPPED1_uc011apw.1_Missense_Mutation_p.R168H|MPPED1_uc011apx.1_Missense_Mutation_p.R116H|MPPED1_uc011apy.1_Missense_Mutation_p.R274H|MPPED1_uc011apz.1_Missense_Mutation_p.R307H	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	274							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTGCAGAGGCGCGTCCAGCCG	0.622													A	43898596	G	A	43898596	3	1	166	1	0	0	0	0	1	0	0	0	9741	1087	38	1	719	1	MPPED1	22	43898596	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	163353	43898596	7405970	1295	91837											
EFCAB6	64800	broad.mit.edu	37	chr22	44031067	44031067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggcatactgatcatcGtccatgggcatcccagtgtc	11	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:44031067G>A	uc003bdy.1	-	18	2228	c.2013C>T	c.(2011-2013)GAC>GAT	p.D671D	EFCAB6_uc003bdz.1_Silent_p.D519D|EFCAB6_uc010gzi.1_Silent_p.D519D|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ACTGATCATCGTCCATGGGCA	0.542													A	44031067	G	A	44031067	2	1	166	1	0	0	0	0	0	0	0	1	4939	1136	40	1		1	EFCAB6	22	44031067	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	132471	44031067	7273499	1296	91838											
CELSR1	9620	broad.mit.edu	37	chr22	46792559	46792559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgcacacgtagccctgcGgggagccgggggagcgcacg	17	14	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:46792559G>A	uc003bhw.1	-	13	5786	c.5786C>T	c.(5785-5787)CCG>CTG	p.P1929L	CELSR1_uc011arc.1_Missense_Mutation_p.P250L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1929	Extracellular (Potential).|EGF-like 6; 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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		GTAGCCCTGCGGGGAGCCGGG	0.622													A	46792559	G	A	46792559	3	1	166	1	0	0	0	0	1	0	0	0	3221	1116	39	1	3350	1	CELSR1	22	46792559	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2761492	46792559	4512007	1297	91839											
FAM19A5	25817	broad.mit.edu	37	chr22	49103656	49103656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggataaagaccaccacGgtatgtggccctcggctttc	13	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:49103656G>A	uc003bim.3	+	3	507	c.390G>A	c.(388-390)ACG>ACA	p.T130T	FAM19A5_uc003bio.3_Silent_p.T123T	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine	130						extracellular region|integral to membrane				large_intestine(1)	1		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)		AGACCACCACGGTATGTGGCC	0.662													A	49103656	G	A	49103656	2	1	166	1	0	0	0	0	0	0	0	1	5535	1130	39	1		1	FAM19A5	22	49103656	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	2311097	49103656	2200910	1298	91840											
BRD1	23774	broad.mit.edu	37	chr22	50191612	50191612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcggctctatagaacaCggtgtccctggcattgtact	10	13	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:50191612C>T	uc003biv.2	-	5	2426	c.1939G>A	c.(1939-1941)GTG>ATG	p.V647M	BRD1_uc011arf.1_Missense_Mutation_p.V242M|BRD1_uc011arg.1_Missense_Mutation_p.V696M|BRD1_uc011arh.1_Missense_Mutation_p.V647M|BRD1_uc003biu.3_Missense_Mutation_p.V647M	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	647	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTATAGAACACGGTGTCCCTG	0.532													T	50191612	C	T	50191612	3	4	166	1	0	0	0	0	1	0	0	0	1501	536	19	1	1269	1	BRD1	22	50191612	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1087956	50191612	1112954	1299	91841											
CRELD2	79174	broad.mit.edu	37	chr22	50316958	50316958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccaacggctcctacacGtgcgaaggtgggccaggcgg	15	13	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:50316958G>A	uc003bja.2	+	7	900	c.765G>A	c.(763-765)ACG>ACA	p.T255T	CRELD2_uc003biz.3_Silent_p.T255T|CRELD2_uc010haj.2_Silent_p.T255T|CRELD2_uc010hal.2_Silent_p.T304T|CRELD2_uc010hak.2_Intron|CRELD2_uc010ham.2_Silent_p.T255T	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	255	FU 2.					endoplasmic reticulum|extracellular region	calcium ion binding				0		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)		GCTCCTACACGTGCGAAGGTG	0.617													A	50316958	G	A	50316958	2	1	166	1	0	0	0	0	0	0	0	1	3867	1132	40	1		1	CRELD2	22	50316958	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	125346	50316958	987608	1300	91842											
TUBGCP6	85378	broad.mit.edu	37	chr22	50658984	50658984	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggagggatgggtacatgGgtgttccaccgtggccgggt	20	8	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:50658984G>T	uc003bkb.1	-	16	4316	c.3804C>A	c.(3802-3804)ACC>ACA	p.T1268T	TUBGCP6_uc003bka.1_Silent_p.T355T|TUBGCP6_uc010har.1_Silent_p.T1260T|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1268	9 X 27 AA tandem repeats.|9.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		TGGGTACATGGGTGTTCCACC	0.652													T	50658984	G	T	50658984	2	4	166	1	0	0	0	0	0	0	0	1	16767	1219	43	5		5	TUBGCP6	22	50658984	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	342026	50658984	645582	1301	91843											
SHOX	6473	broad.mit.edu	37	chrX	591692	591692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaagcaaggacggtaaCggcggaggcggaggcggcgg	20	8	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:591692C>T	uc004cph.1	+	2	751	c.60C>T	c.(58-60)AAC>AAT	p.N20N	SHOX_uc004cpi.2_Silent_p.N20N	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	20	Poly-Gly.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)				AGGACGGTAACGGCGGAGGCG	0.622													T	591692	C	T	591692	2	4	166	1	0	0	0	0	0	0	0	1	14288	535	19	1		1	SHOX	23	591692	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08		591692	154678868	1302	91844											
ZBED1	9189	broad.mit.edu	37	chrX	2407993	2407993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggcgctgatgccccactcGatgaagacctcatagagcac	10	13	1	4	rs141687518		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:2407993G>A	uc004cqg.2	-	2	969	c.768C>T	c.(766-768)ATC>ATT	p.I256I	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.I256I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	256						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				TGCCCCACTCGATGAAGACCT	0.617													A	2407993	G	A	2407993	2	1	166	1	0	0	0	0	0	0	0	1	17514	1048	37	1		1	ZBED1	23	2407993	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	1816301	2407993	152862567	1303	91845											
KAL1	3730	broad.mit.edu	37	chrX	8503692	8503692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgttctgtctgctttcCgtagtgacctcagcccaagt	10	12	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:8503692C>T	uc004csf.2	-	12	1932	c.1782G>A	c.(1780-1782)ACG>ACA	p.T594T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	594	Fibronectin type-III 4.				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			ovary(3)|pancreas(1)	4						GTCTGCTTTCCGTAGTGACCT	0.493													T	8503692	C	T	8503692	2	4	166	1	0	0	0	0	0	0	0	1	7974	639	23	1		1	KAL1	23	8503692	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	6095699	8503692	146766868	1304	91846											
ARX	170302	broad.mit.edu	37	chrX	25033731	25033731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcggctcccagcaaccGcattttgcacgggctcctcc	10	18	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:25033731G>A	uc004dbp.3	-	1	335	c.124C>T	c.(124-126)CGG>TGG	p.R42W		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	42						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCCAGCAACCGCATTTTGCAC	0.622													A	25033731	G	A	25033731	3	1	166	1	0	0	0	0	1	0	0	0	1004	1086	38	1	1584	1	ARX	23	25033731	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	16530039	25033731	130236829	1305	91847											
BCOR	54880	broad.mit.edu	37	chrX	39931787	39931788	+	Frame_Shift_Ins	INS	-	-	G													gctccatctttggtataggtINSgggggtcacatccacacttg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:39931787_39931788insG	uc004den.3	-	4	3103_3104	c.2811_2812insC	c.(2809-2814)CCCACCfs	p.P937fs	BCOR_uc004dep.3_Frame_Shift_Ins_p.P937fs|BCOR_uc004deo.3_Frame_Shift_Ins_p.P937fs|BCOR_uc004dem.3_Frame_Shift_Ins_p.P937fs|BCOR_uc004deq.3_Frame_Shift_Ins_p.P937fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	937_938					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						TTGGTATAGGTGGGGGTCACAT	0.515													G	39931788	-	G	39931787	7	5	166	1	0	1	1	0	0	0	0	0	1386	1696	59	0	2503	0	BCOR	23	39931787	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	14898056	39931787	115338773	1306	91848	445	2									
BCOR	54880	broad.mit.edu	37	chrX	39931788	39931789	+	Frame_Shift_Ins	INS	-	-	G													ctccatctttggtataggtgINSggggtcacatccacacttgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:39931787_39931788T>TG	uc004den.4	-	3	3103_3104	c.2811_2812A>CA	c.(2809-2814)cccaccfs	p.P937fs	BCOR_uc004dep.4_Frame_Shift_Ins_p.P937fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.P937fs|BCOR_uc004dem.4_Frame_Shift_Ins_p.P937fs|BCOR_uc004deq.4_Frame_Shift_Ins_p.P937fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	937					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	p.T936N(1)		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						TTGGTATAGGTGGGGGTCACAT	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						G	39931789	-	G	39931788	7	5	166	1	0	1	1	0	0	0	0	0	1386	1335	47	0	2504	0	BCOR	23	39931788	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1	39931788	115338772	1307	91849	445	2									
KDM6A	7403	broad.mit.edu	37	chrX	44922797	44922798	+	Frame_Shift_Del	DEL	TC	TC	-													tctgaccagagtgcctagcgTctctcagcctggagtccgtc							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:44922797_44922798delTC	uc004dge.3	+	16	2033_2034	c.1658_1659delTC	c.(1657-1659)GTCfs	p.V553fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.V519fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.V605fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.V508fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.V560fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.V257fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.V192fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	553					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GTGCCTAGCGTCTCTCAGCCTG	0.564			D|N|F|S		renal|oesophageal SCC|MM								-	44922798	TC	-	44922797	7	5	166	1	0	1	0	1	0	0	0	0	8137	1667	58	0	1720	0	KDM6A	23	44922797	Frame_Shift_Del	DEL	TC	TCGA-CG-4306-01A-01D-1158-08	4991009	44922797	110347763	1308	91850											
HDAC6	10013	broad.mit.edu	37	chrX	48661558	48661558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccttgaggctgaagcActggctggcactggcttggt	14	10	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:48661558A>G	uc011mmi.1	+	4	341	c.246A>G	c.(244-246)GCA>GCG	p.A82A	HDAC6_uc004dkr.1_Silent_p.A82A|HDAC6_uc004dks.1_Silent_p.A82A|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Silent_p.A82A|HDAC6_uc004dku.3_Silent_p.A82A|HDAC6_uc011mmj.1_Silent_p.A27A|HDAC6_uc011mmk.1_Silent_p.A63A	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	82					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			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	AGGCTGAAGCACTGGCTGGCA	0.527													G	48661558	A	G	48661558	2	3	166	1	0	0	0	0	0	0	0	1	7011	146	6	3		3	HDAC6	23	48661558	Silent	SNP	A	TCGA-CG-4306-01A-01D-1158-08	3738761	48661558	106609002	1309	91851											
PPP1R3F	89801	broad.mit.edu	37	chrX	49138500	49138500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtagcccccacccctctcCgtccatggccccagatgaca	8	19	1	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:49138500C>T	uc004dnh.1	+	3	1133	c.1117C>T	c.(1117-1119)CGT>TGT	p.R373C	PPP1R3F_uc011mnd.1_Missense_Mutation_p.R44C|PPP1R3F_uc004dni.2_Missense_Mutation_p.R27C|PPP1R3F_uc004dnj.1_Missense_Mutation_p.R27C	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	373	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CACCCCTCTCCGTCCATGGCC	0.567													T	49138500	C	T	49138500	3	4	166	1	0	0	0	0	1	0	0	0	12375	652	23	1	1127	1	PPP1R3F	23	49138500	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	476942	49138500	106132060	1310	91852											
ALAS2	212	broad.mit.edu	37	chrX	55039970	55039970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggggagggtgccaagcGcaggagctcttcaccccggg	19	11	2	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:55039970G>A	uc004dua.3	-	10	1687	c.1549C>T	c.(1549-1551)CGC>TGC	p.R517C	ALAS2_uc004dub.3_Missense_Mutation_p.R504C|ALAS2_uc004dud.3_Missense_Mutation_p.R480C	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	517					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			ovary(1)	1					Glycine(DB00145)	GGTGCCAAGCGCAGGAGCTCT	0.577													A	55039970	G	A	55039970	3	1	166	1	0	0	0	0	1	0	0	0	485	1087	38	1	222	1	ALAS2	23	55039970	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5901470	55039970	100230590	1311	91853											
ZC4H2	55906	broad.mit.edu	37	chrX	64139033	64139033	+	Frame_Shift_Del	DEL	G	G	-													gcggccagggactcagggatGgggggctcctgaggttctgt							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:64139033delG	uc004dvu.2	-	4	538	c.450delC	c.(448-450)CCCfs	p.P150fs	ZC4H2_uc004dvv.2_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mov.1_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	150							metal ion binding|protein binding			ovary(1)	1						ACTCAGGGATGGGGGGCTCCT	0.572													-	64139033	G	-	64139033	7	5	166	1	0	1	0	1	0	0	0	0	17575	1335	47	0	251	0	ZC4H2	23	64139033	Frame_Shift_Del	DEL	G	TCGA-CG-4306-01A-01D-1158-08	9099063	64139033	91131527	1312	91854											
NAP1L2	4674	broad.mit.edu	37	chrX	72433105	72433106	+	Frame_Shift_Ins	INS	-	-	A													attccagtgcatcacctgagINSaaaaataatactgatcttgg							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:72433105_72433106insA	uc004ebi.2	-	1	1579_1580	c.1223_1224insT	c.(1222-1224)TTCfs	p.F408fs	NAP1L2_uc011mqj.1_Frame_Shift_Ins_p.F266fs	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	408					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CATCACCTGAGAAAAATAATAC	0.356													A	72433106	-	A	72433105	7	5	166	1	0	1	1	0	0	0	0	0	10157	933	33	0	162	0	NAP1L2	23	72433105	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	8294072	72433105	82837455	1313	91855	446	2									
NAP1L2	4674	broad.mit.edu	37	chrX	72433106	72433107	+	Frame_Shift_Ins	INS	-	-	A													ttccagtgcatcacctgagaINSaaaataatactgatcttgga							TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:72433105_72433106G>GA	uc004ebi.3	-	0	1605_1606	c.1223_1224C>TC	c.(1222-1224)ttcfs	p.F408fs		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	408					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)					CATCACCTGAGAAAAATAATAC	0.356													A	72433107	-	A	72433106	7	5	166	1	0	1	1	0	0	0	0	0	10157	246	9	0	163	0	NAP1L2	23	72433106	Frame_Shift_Ins	INS	-	TCGA-CG-4306-01A-01D-1158-08	1	72433106	82837454	1314	91856	446	2									
PCDH19	57526	broad.mit.edu	37	chrX	99662749	99662749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagagctcgcgcgtgcggtCgttgacgtagccatagaagg	15	9	0	3			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:99662749C>T	uc010nmz.2	-	1	2523	c.847G>A	c.(847-849)GAC>AAC	p.D283N	PCDH19_uc004efw.3_Missense_Mutation_p.D283N|PCDH19_uc004efx.3_Missense_Mutation_p.D283N	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CGCGTGCGGTCGTTGACGTAG	0.602													T	99662749	C	T	99662749	3	4	166	1	0	0	0	0	1	0	0	0	11514	884	31	1	2623	1	PCDH19	23	99662749	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	27229643	99662749	55607811	1315	91857											
GPRASP2	114928	broad.mit.edu	37	chrX	101971337	101971337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccgatccacaagccccTttggaattcccgaagaggct	9	14	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:101971337T>G	uc004ejk.2	+	4	2874	c.1540T>G	c.(1540-1542)TTT>GTT	p.F514V	GPRASP2_uc004ejl.2_Missense_Mutation_p.F514V|GPRASP2_uc004ejm.2_Missense_Mutation_p.F514V|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	514						cytoplasm	protein binding			ovary(1)	1						CACAAGCCCCTTTGGAATTCC	0.512													G	101971337	T	G	101971337	3	3	166	1	0	0	0	0	1	0	0	0	6723	1609	56	5	1542	5	GPRASP2	23	101971337	Missense_Mutation	SNP	T	TCGA-CG-4306-01A-01D-1158-08	2308588	101971337	53299223	1316	91858											
COL4A6	1288	broad.mit.edu	37	chrX	107402789	107402789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaatggcttgcgagggtGcctcacacacagagcagcgg	14	12	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:107402789G>A	uc004enw.3	-	44	4821	c.4718C>T	c.(4717-4719)GCA>GTA	p.A1573V	COL4A6_uc004env.3_Missense_Mutation_p.A1572V|COL4A6_uc011msn.1_Missense_Mutation_p.A1548V|COL4A6_uc010npk.2_Missense_Mutation_p.A1515V|COL4A6_uc011msm.1_Missense_Mutation_p.A107V|COL4A6_uc010npj.2_Missense_Mutation_p.A52V	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1573	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						TTGCGAGGGTGCCTCACACAC	0.592									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107402789	G	A	107402789	3	1	166	1	0	0	0	0	1	0	0	0	3695	1319	46	2	365	2	COL4A6	23	107402789	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5431452	107402789	47867771	1317	91859											
IRS4	8471	broad.mit.edu	37	chrX	107979542	107979542	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacctcttagtcttcttgtCgcttggtcgcgagtgaagga	12	10	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:107979542C>T	uc004eoc.2	-	1	66	c.33G>A	c.(31-33)GCG>GCA	p.A11A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	11						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GTCTTCTTGTCGCTTGGTCGC	0.597													T	107979542	C	T	107979542	2	4	166	1	0	0	0	0	0	0	0	1	7842	871	31	1		1	IRS4	23	107979542	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	576753	107979542	47291018	1318	91860											
CAPN6	827	broad.mit.edu	37	chrX	110495724	110495724	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcctcataacagcctagCagcctgagggcaagtatgca	12	11	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:110495724C>A	uc004epc.1	-	5	678	c.510G>T	c.(508-510)CTG>CTT	p.L170L	CAPN6_uc011msu.1_Intron	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	170	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						AACAGCCTAGCAGCCTGAGGG	0.423													A	110495724	C	A	110495724	2	1	166	1	0	0	0	0	0	0	0	1	2630	697	25	5		5	CAPN6	23	110495724	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	2516182	110495724	44774836	1319	91861											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686397	125686397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagccctggagcctggcGgggccccacccgcctacctc	12	19	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:125686397G>A	uc004eul.2	-	1	446	c.195C>T	c.(193-195)CCC>CCT	p.P65P		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	65										skin(3)|ovary(1)	4						GGAGCCTGGCGGGGCCCCACC	0.687													A	125686397	G	A	125686397	2	1	166	1	0	0	0	0	0	0	0	1	4264	1103	39	1		1	DCAF12L1	23	125686397	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	15190673	125686397	29584163	1320	91862											
ACTRT1	139741	broad.mit.edu	37	chrX	127185702	127185702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggggacagtgcaagtgaCcccatctccactgtccacca	10	14	1	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:127185702C>T	uc004eum.2	-	1	681	c.484G>A	c.(484-486)GTC>ATC	p.V162I		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	162						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						GTGCAAGTGACCCCATCTCCA	0.577													T	127185702	C	T	127185702	3	4	166	1	0	0	0	0	1	0	0	0	218	507	18	4	650	4	ACTRT1	23	127185702	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	1499305	127185702	28084858	1321	91863											
GPC3	2719	broad.mit.edu	37	chrX	132887949	132887949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgtcttgctcctcggaGgcactcattgatgtccaagg	11	12	3	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:132887949G>A	uc004exe.1	-	3	782	c.592C>T	c.(592-594)CTC>TTC	p.L198F	GPC3_uc004exd.1_Missense_Mutation_p.L70F|GPC3_uc010nrn.1_Missense_Mutation_p.L198F|GPC3_uc011mvh.1_Missense_Mutation_p.L182F|GPC3_uc010nro.1_Missense_Mutation_p.L144F|GPC3_uc010nrp.1_Missense_Mutation_p.L70F	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	198						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GCTCCTCGGAGGCACTCATTG	0.468			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				A	132887949	G	A	132887949	3	1	166	1	0	0	0	0	1	0	0	0	6599	1000	35	4	1247	4	GPC3	23	132887949	Missense_Mutation	SNP	G	TCGA-CG-4306-01A-01D-1158-08	5702247	132887949	22382611	1322	91864											
MAGEA1	4100	broad.mit.edu	37	chrX	152482987	152482987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcaggcttgcagtgCagactcctctgctcaagaga	10	13	3	2			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:152482987C>T	uc004fhf.2	-	3	244	c.24G>A	c.(22-24)CTG>CTA	p.L8L		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	8						cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCAGTGCAGACTCCTCT	0.627													T	152482987	C	T	152482987	2	4	166	1	0	0	0	0	0	0	0	1	9163	697	25	2		2	MAGEA1	23	152482987	Silent	SNP	C	TCGA-CG-4306-01A-01D-1158-08	19595038	152482987	2787573	1323	91865											
DUSP9	1852	broad.mit.edu	37	chrX	152915111	152915111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggagccagaacctgtcGcggttctttccggaggccat	12	13	1	1	rs137969779	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:152915111G>A	uc004fhx.3	+	3	1002	c.798G>A	c.(796-798)TCG>TCA	p.S266S	DUSP9_uc004fhy.3_Silent_p.S266S	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	266	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAACCTGTCGCGGTTCTTTC	0.572													A	152915111	G	A	152915111	2	1	166	1	0	0	0	0	0	0	0	1	4832	1074	38	1		1	DUSP9	23	152915111	Silent	SNP	G	TCGA-CG-4306-01A-01D-1158-08	432124	152915111	2355449	1324	91866											
HCFC1	3054	broad.mit.edu	37	chrX	153219639	153219639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagccagcagcgcggtgCcagcctggggggtgacgctg	19	11	0	1			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:153219639C>T	uc004fjp.2	-	17	4739	c.4211G>A	c.(4210-4212)GGC>GAC	p.G1404D		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1404					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGCGGTGCCAGCCTGGGG	0.677													T	153219639	C	T	153219639	3	4	166	1	0	0	0	0	1	0	0	0	6991	739	26	2	1936	2	HCFC1	23	153219639	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	304528	153219639	2050921	1325	91867											
FLNA	2316	broad.mit.edu	37	chrX	153596065	153596065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctcgcgcattggtaaCgggcttgctggcgtcccaag	14	13	1	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:153596065C>T	uc004fkk.2	-	4	913	c.664G>A	c.(664-666)GTT>ATT	p.V222I	FLNA_uc010nuu.1_Missense_Mutation_p.V222I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	222	CH 2.|Actin-binding.				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)					GCATTGGTAACGGGCTTGCTG	0.677													T	153596065	C	T	153596065	3	4	166	1	0	0	0	0	1	0	0	0	5933	536	19	1	7459	1	FLNA	23	153596065	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	376426	153596065	1674495	1326	91868											
PLXNA3	55558	broad.mit.edu	37	chrX	153693146	153693146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccactggtgtaagtacCgccacacgtgtaccagccgc	10	16	0	0			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:153693146C>T	uc004flm.2	+	10	2151	c.1978C>T	c.(1978-1980)CGC>TGC	p.R660C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	660	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					GTGTAAGTACCGCCACACGTG	0.647													T	153693146	C	T	153693146	3	4	166	1	0	0	0	0	1	0	0	0	12121	652	23	1	2012	1	PLXNA3	23	153693146	Missense_Mutation	SNP	C	TCGA-CG-4306-01A-01D-1158-08	97081	153693146	1577414	1327	91869											
PRAMEF4	400735	broad.mit.edu	37	chr1	12942129	12942129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccgtcctctcatccttgGacagtcctccactggttttt	7	15	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:12942129G>A	uc001aun.2	-	3	492	c.421C>T	c.(421-423)CCA>TCA	p.P141S		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	141										ovary(1)	1	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)		CTCATCCTTGGACAGTCCTCC	0.502													A	12942129	G	A	12942129	3	1	167	1	0	0	0	0	1	0	0	0	12437	1174	41	4	1023	4	PRAMEF4	1	12942129	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08		12942129	236308492	1	91870											
DMAP1	55929	broad.mit.edu	37	chr1	44684864	44684864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagcggcgcacggaacGcaaggcccccaaaaagaagc	13	13	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:44684864G>A	uc001clq.1	+	7	937	c.857G>A	c.(856-858)CGC>CAC	p.R286H	DMAP1_uc001clr.1_Missense_Mutation_p.R286H|DMAP1_uc001cls.1_Missense_Mutation_p.R286H|DMAP1_uc010oku.1_Missense_Mutation_p.R276H	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	286					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				0	Acute lymphoblastic leukemia(166;0.155)					CGCACGGAACGCAAGGCCCCC	0.612													A	44684864	G	A	44684864	3	1	167	1	0	0	0	0	1	0	0	0	4576	1087	38	1	879	1	DMAP1	1	44684864	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	31742735	44684864	204565757	2	91871											
LRRIQ3	127255	broad.mit.edu	37	chr1	74621486	74621486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactggtgaattatgagccAgaattgcattaatttttgaa	8	4	0	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:74621486A>G	uc001dfy.3	-	4	830	c.638T>C	c.(637-639)CTG>CCG	p.L213P	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	213										ovary(2)	2						ATTATGAGCCAGAATTGCATT	0.244													G	74621486	A	G	74621486	3	3	167	1	0	0	0	0	1	0	0	0	9030	188	7	3	1256	3	LRRIQ3	1	74621486	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	29936622	74621486	174629135	3	91872											
DRAM2	128338	broad.mit.edu	37	chr1	111663184	111663184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ataaccaacaacagtctgatCcagaagacttgtttgccatg	7	10	1	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:111663184C>G	uc001ead.3	-	6	728	c.471G>C	c.(469-471)TGG>TGC	p.W157C	DRAM2_uc001eae.3_Missense_Mutation_p.W157C|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Missense_Mutation_p.W27C	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	157					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						ACAGTCTGATCCAGAAGACTT	0.423													G	111663184	C	G	111663184	3	3	167	1	0	0	0	0	1	0	0	0	4754	856	30	5	345	5	DRAM2	1	111663184	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	37041698	111663184	137587437	4	91873											
FLG	2312	broad.mit.edu	37	chr1	152284662	152284662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagccgtctcttgattgTtcctcattacgtgttgttct	9	10	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:152284662T>C	uc001ezu.1	-	3	2736	c.2700A>G	c.(2698-2700)GAA>GAG	p.E900E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	900	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGATTGTTCCTCATTAC	0.562									Ichthyosis				C	152284662	T	C	152284662	2	2	167	1	0	0	0	0	0	0	0	1	5922	1722	60	3		3	FLG	1	152284662	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	40621478	152284662	96965959	5	91874											
LCE2C	353140	broad.mit.edu	37	chr1	152648577	152648577	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtccacctaagtgtcCccccaaatgcccaccacagt	5	16	0	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:152648577C>G	uc001fah.2	+	2	141	c.86C>G	c.(85-87)CCC>CGC	p.P29R		NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	29	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cctaagtgtccccccaaATGC	0.438													G	152648577	C	G	152648577	3	3	167	1	0	0	0	0	1	0	0	0	8667	623	22	5	88	5	LCE2C	1	152648577	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	363915	152648577	96602044	6	91875											
FCRL2	79368	broad.mit.edu	37	chr1	157739893	157739893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggctcactggacccccttCgatgggctggaaggagctgg	15	12	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:157739893C>T	uc001fre.2	-	4	417	c.358G>A	c.(358-360)GAA>AAA	p.E120K	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.E120K|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.E120K	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	120	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGACCCCCTTCGATGGGCTGG	0.532													T	157739893	C	T	157739893	3	4	167	1	0	0	0	0	1	0	0	0	5795	893	31	1	1204	1	FCRL2	1	157739893	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	5091316	157739893	91510728	7	91876											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166028	161166028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatggcacagctccgagcCgggtcacagacggtgcccac	12	15	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:161166028C>T	uc001fyt.3	-	3	1451	c.1023G>A	c.(1021-1023)CCG>CCA	p.P341P	ADAMTS4_uc001fyu.2_3'UTR	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	341	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCTCCGAGCCGGGTCACAGA	0.562													T	161166028	C	T	161166028	2	4	167	1	0	0	0	0	0	0	0	1	268	639	23	1		1	ADAMTS4	1	161166028	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	3426135	161166028	88084593	8	91877											
PAPPA2	60676	broad.mit.edu	37	chr1	176668713	176668713	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacacattctcacaggaAgttcacggacgtgtgagttt	12	8	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:176668713A>C	uc001gkz.2	+	8	4388	c.3224A>C	c.(3223-3225)AAG>ACG	p.K1075T	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1075					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TCTCACAGGAAGTTCACGGAC	0.537													C	176668713	A	C	176668713	3	2	167	1	0	0	0	0	1	0	0	0	11433	72	3	5	3303	5	PAPPA2	1	176668713	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	15502685	176668713	72581908	9	91878											
B3GALT2	8707	broad.mit.edu	37	chr1	193150565	193150565	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagtcatgatgattgAaaaacaaaaacatagcaaaa	7	7	1	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:193150565A>T	uc001gtc.3	-	2	843	c.128T>A	c.(127-129)TTC>TAC	p.F43Y	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	43	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						ATGATGATTGAAAAACAAAAA	0.418													T	193150565	A	T	193150565	3	4	167	1	0	0	0	0	1	0	0	0	1248	246	9	5	1144	5	B3GALT2	1	193150565	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	16481852	193150565	56100056	10	91879											
KCNT2	343450	broad.mit.edu	37	chr1	196250003	196250003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaacctcagatgtagtaAgtttctgagactcagtcctg	8	10	3	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:196250003A>G	uc001gtd.1	-	25	2957	c.2897T>C	c.(2896-2898)CTT>CCT	p.L966P	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L892P|KCNT2_uc001gtf.1_Missense_Mutation_p.L942P|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L942P|KCNT2_uc001gth.1_Missense_Mutation_p.L463P	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AGATGTAGTAAGTTTCTGAGA	0.328													G	196250003	A	G	196250003	3	3	167	1	0	0	0	0	1	0	0	0	8092	72	3	3	526	3	KCNT2	1	196250003	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	3099438	196250003	53000618	11	91880											
ZNF281	23528	broad.mit.edu	37	chr1	200377112	200377112	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgcctcattgtccaaAacactgacacctgcagactg	8	12	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:200377112A>C	uc001gve.2	-	2	1829	c.1722T>G	c.(1720-1722)GTT>GTG	p.V574V	ZNF281_uc001gvf.1_Silent_p.V574V|ZNF281_uc001gvg.1_Silent_p.V538V	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	574					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			ovary(1)|breast(1)	2						CATTGTCCAAAACACTGACAC	0.423													C	200377112	A	C	200377112	2	2	167	1	0	0	0	0	0	0	0	1	17815	1	1	5		5	ZNF281	1	200377112	Silent	SNP	A	TCGA-CG-4436-01A-01D-1158-08	4127109	200377112	48873509	12	91881											
CR1	1378	broad.mit.edu	37	chr1	207684998	207684998	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaacacctatttgtgaCagtgagttgaaatatccctt	7	7	0	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:207684998C>G	uc001hfy.2	+	4	626	c.486C>G	c.(484-486)GAC>GAG	p.D162E	CR1_uc009xcl.1_Missense_Mutation_p.D162E|CR1_uc001hfx.2_Missense_Mutation_p.D162E|CR1_uc009xcj.1_Missense_Mutation_p.D162E|CR1_uc009xck.1_Missense_Mutation_p.D162E	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	162	Extracellular (Potential).|Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CTATTTGTGACAGtgagttga	0.214													G	207684998	C	G	207684998	3	3	167	1	0	0	0	0	1	0	0	0	3840	492	17	5	500	5	CR1	1	207684998	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	7307886	207684998	41565623	13	91882											
LIN9	286826	broad.mit.edu	37	chr1	226475499	226475499	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacattgttgctgtaaatttCtatacaataaaaaaaagaga	6	4	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:226475499C>T	uc001hqa.2	-	5	623	c.313_splice	c.e5-1	p.K105_splice	LIN9_uc001hqb.2_Splice_Site_p.K70_splice|LIN9_uc001hqc.2_Splice_Site_p.K37_splice|LIN9_uc009xel.1_Splice_Site_p.K70_splice	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog						cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CTGTAAATTTCTATACAATAA	0.294													T	226475499	C	T	226475499	5	4	167	1	0	0	0	0	0	0	1	0	8813	927	32	4	1408	4	LIN9	1	226475499	Splice_Site	SNP	C	TCGA-CG-4436-01A-01D-1158-08	18790501	226475499	22775122	14	91883											
ACTA1	58	broad.mit.edu	37	chr1	229568156	229568156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgttgtgggtgacgccGtcgccggagtccagcacgat	16	12	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:229568156G>A	uc001htm.2	-	4	582	c.477C>T	c.(475-477)GAC>GAT	p.D159D		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	159					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				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGGTGACGCCGTCGCCGGAGT	0.637													A	229568156	G	A	229568156	2	1	167	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229568156	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3092657	229568156	19682465	15	91884											
ACTN2	88	broad.mit.edu	37	chr1	236902755	236902755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgccagctggagatcAacttcaacacgctgcagacc	9	12	2	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:236902755A>G	uc001hyf.2	+	10	1234	c.1030A>G	c.(1030-1032)AAC>GAC	p.N344D	ACTN2_uc001hyg.2_Missense_Mutation_p.N136D|ACTN2_uc009xgi.1_Missense_Mutation_p.N344D|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.N32D	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	344	Spectrin 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			ovary(4)|skin(1)	5	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)			GCTGGAGATCAACTTCAACAC	0.582													G	236902755	A	G	236902755	3	3	167	1	0	0	0	0	1	0	0	0	205	130	5	3	1068	3	ACTN2	1	236902755	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	7334599	236902755	12347866	16	91885											
ACTN2	88	broad.mit.edu	37	chr1	236910982	236910982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagtgaactggactatcaCgacgctgtgaatgtcaatga	10	7	2	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:236910982C>T	uc001hyf.2	+	13	1626	c.1422C>T	c.(1420-1422)CAC>CAT	p.H474H	ACTN2_uc001hyg.2_Silent_p.H266H|ACTN2_uc009xgi.1_Silent_p.H474H|ACTN2_uc010pxu.1_Silent_p.H163H|ACTN2_uc001hyh.2_Silent_p.H162H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	474	Spectrin 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			ovary(4)|skin(1)	5	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)			TGGACTATCACGACGCTGTGA	0.408													T	236910982	C	T	236910982	2	4	167	1	0	0	0	0	0	0	0	1	205	535	19	1		1	ACTN2	1	236910982	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	8227	236910982	12339639	17	91886											
TRIM58	25893	broad.mit.edu	37	chr1	248020713	248020713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgcagggcggcgtctaCgcctgtccgcagtgccgggg	19	14	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr1:248020713C>T	uc001ido.2	+	1	213	c.165C>T	c.(163-165)TAC>TAT	p.Y55Y		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	55	RING-type.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCGGCGTCTACGCCTGTCCGC	0.701													T	248020713	C	T	248020713	2	4	167	1	0	0	0	0	0	0	0	1	16528	547	19	1		1	TRIM58	1	248020713	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	11109731	248020713	1229908	18	91887											
WDR43	23160	broad.mit.edu	37	chr2	29137031	29137031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggaattacaggtcttTatttcttatctggagcagta	9	5	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:29137031T>C	uc002rmo.2	+	5	735	c.703T>C	c.(703-705)TAT>CAT	p.Y235H		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	235	WD 5.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TACAGGTCTTTATTTCTTATC	0.428													C	29137031	T	C	29137031	3	2	167	1	0	0	0	0	1	0	0	0	17292	1754	61	3	721	3	WDR43	2	29137031	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08		29137031	214062342	19	91888											
TTC27	55622	broad.mit.edu	37	chr2	32958967	32958967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattttctattgctgtcaaGtaccacctcactgggccatt	7	11	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:32958967G>T	uc002rom.2	+	11	1537	c.1306G>T	c.(1306-1308)GTA>TTA	p.V436L	TTC27_uc010ymx.1_Missense_Mutation_p.V386L|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	436							protein binding			central_nervous_system(1)	1						TTGCTGTCAAGTACCACCTCA	0.353													T	32958967	G	T	32958967	3	4	167	1	0	0	0	0	1	0	0	0	16692	1029	36	5	1348	5	TTC27	2	32958967	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3821936	32958967	210240406	20	91889											
LTBP1	4052	broad.mit.edu	37	chr2	33623444	33623444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagatgtaaatgaatgCgatgagttgaacaaccggat	11	5	0	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:33623444C>T	uc002ros.2	+	34	5001	c.5001C>T	c.(4999-5001)TGC>TGT	p.C1667C	LTBP1_uc002rot.2_Silent_p.C1341C|LTBP1_uc002rou.2_Silent_p.C1340C|LTBP1_uc002rov.2_Silent_p.C1287C|LTBP1_uc010ymz.1_Silent_p.C1298C|LTBP1_uc010yna.1_Silent_p.C1245C|LTBP1_uc010ynb.1_Silent_p.C564C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1666	EGF-like 18; 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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAATGAATGCGATGAGTTGA	0.463													T	33623444	C	T	33623444	2	4	167	1	0	0	0	0	0	0	0	1	9073	776	27	1		1	LTBP1	2	33623444	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	664477	33623444	209575929	21	91890											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450508	107450508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccatctgtcttacctgCgaattaatgatgcgtatggt	8	10	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:107450508C>T	uc002tdq.2	-	3	1157	c.1038G>A	c.(1036-1038)TCG>TCA	p.S346S	ST6GAL2_uc002tdr.2_Silent_p.S346S|ST6GAL2_uc002tds.3_Silent_p.S346S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	346	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GTCTTACCTGCGAATTAATGA	0.388													T	107450508	C	T	107450508	2	4	167	1	0	0	0	0	0	0	0	1	15221	755	27	1		1	ST6GAL2	2	107450508	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	73827064	107450508	135748865	22	91891											
CCDC138	165055	broad.mit.edu	37	chr2	109429148	109429148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaaaagagttcaagctcGtttagataatttacaggtaa	9	5	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:109429148G>A	uc002ten.1	+	8	977	c.917G>A	c.(916-918)CGT>CAT	p.R306H	CCDC138_uc002teo.1_Missense_Mutation_p.R306H|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	306	Potential.										0						GTTCAAGCTCGTTTAGATAAT	0.318													A	109429148	G	A	109429148	3	1	167	1	0	0	0	0	1	0	0	0	2772	1145	40	1	947	1	CCDC138	2	109429148	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	1978640	109429148	133770225	23	91892											
TTL	150465	broad.mit.edu	37	chr2	113251822	113251826	+	Frame_Shift_Del	DEL	GAATG	GAATG	-													actccagttgctccagcacaGaatggaattcagccaccaat							TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:113251821_113251825AGAATG>A	uc002thu.3	+	2	517_521	c.338_342AGAATG>A	c.(337-342)cagaatfs	p.Q113fs		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	113	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCTCCAGCACAGAATGGAATTCAGC	0.444			T	ETV6	ALL								-	113251826	GAATG	-	113251822	7	5	167	1	0	1	0	1	0	0	0	0	16718	933	33	0	349	0	TTL	2	113251822	Frame_Shift_Del	DEL	GAATG	TCGA-CG-4436-01A-01D-1158-08	3822674	113251822	129947551	24	91893											
NCKAP5	344148	broad.mit.edu	37	chr2	133542769	133542769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacagctgctggcgcaacTtgtcagcttttcaggccttt	12	11	2	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:133542769T>G	uc002ttp.2	-	14	1989	c.1615A>C	c.(1615-1617)AGT>CGT	p.S539R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	539							protein binding				0						CTGGCGCAACTTGTCAGCTTT	0.552													G	133542769	T	G	133542769	3	3	167	1	0	0	0	0	1	0	0	0	10223	1609	56	5	4142	5	NCKAP5	2	133542769	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	20290947	133542769	109656604	25	91894											
XIRP2	129446	broad.mit.edu	37	chr2	168103323	168103323	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtactgttagtgaaactgaCatcatccctggagatgtgca	10	9	1	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:168103323C>G	uc002udx.2	+	8	5439	c.5421C>G	c.(5419-5421)GAC>GAG	p.D1807E	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1632E|XIRP2_uc010fpq.2_Missense_Mutation_p.D1585E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1632					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTGAAACTGACATCATCCCTG	0.388													G	168103323	C	G	168103323	3	3	167	1	0	0	0	0	1	0	0	0	17427	477	17	5	5451	5	XIRP2	2	168103323	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	34560554	168103323	75096050	26	91895											
MYO3B	140469	broad.mit.edu	37	chr2	171323173	171323173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggagacagtcagcatccGccgccagggctattcccacc	10	16	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:171323173G>A	uc002ufy.2	+	25	3109	c.2966G>A	c.(2965-2967)CGC>CAC	p.R989H	MYO3B_uc002ufv.2_Missense_Mutation_p.R976H|MYO3B_uc010fqb.1_Missense_Mutation_p.R976H|MYO3B_uc002ufz.2_Missense_Mutation_p.R989H|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	989	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GTCAGCATCCGCCGCCAGGGC	0.522													A	171323173	G	A	171323173	3	1	167	1	0	0	0	0	1	0	0	0	10077	1087	38	1	3064	1	MYO3B	2	171323173	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3219850	171323173	71876200	27	91896											
TTN	7273	broad.mit.edu	37	chr2	179438783	179438783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacctttatctttggtgCctcaacatcatccctgcaag	5	14	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:179438783C>T	uc010zfg.1	-	275	64596	c.64372G>A	c.(64372-64374)GCA>ACA	p.A21458T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A15153T|TTN_uc010zfi.1_Missense_Mutation_p.A15086T|TTN_uc010zfj.1_Missense_Mutation_p.A14961T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22385							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTGGTGCCTCAACATCA	0.468													T	179438783	C	T	179438783	3	4	167	1	0	0	0	0	1	0	0	0	16732	739	26	2	36051	2	TTN	2	179438783	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	8115610	179438783	63760590	28	91897											
TTN	7273	broad.mit.edu	37	chr2	179495978	179495978	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtagaataacttcatctttCtctacaccagtataatcttg	4	9	4	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:179495978C>G	uc010zfg.1	-	186	36317	c.36093G>C	c.(36091-36093)GAG>GAC	p.E12031D	TTN_uc010zfh.1_Missense_Mutation_p.E5726D|TTN_uc010zfi.1_Missense_Mutation_p.E5659D|TTN_uc010zfj.1_Missense_Mutation_p.E5534D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12958							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCATCTTTCTCTACACCAG	0.353													G	179495978	C	G	179495978	3	3	167	1	0	0	0	0	1	0	0	0	16732	912	32	5	64400	5	TTN	2	179495978	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	57195	179495978	63703395	29	91898											
ERBB4	2066	broad.mit.edu	37	chr2	212426722	212426722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggcagccatggggcataAgttgagtaaccagctggatg	14	8	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:212426722A>G	uc002veg.1	-	20	2491	c.2393T>C	c.(2392-2394)CTT>CCT	p.L798P	ERBB4_uc002veh.1_Missense_Mutation_p.L798P|ERBB4_uc010zji.1_Missense_Mutation_p.L788P|ERBB4_uc010zjj.1_Missense_Mutation_p.L788P|ERBB4_uc010fut.1_Missense_Mutation_p.L798P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	798	ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		ATGGGGCATAAGTTGAGTAAC	0.493										TSP Lung(8;0.080)			G	212426722	A	G	212426722	3	3	167	1	0	0	0	0	1	0	0	0	5209	72	3	3	1569	3	ERBB4	2	212426722	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	32930744	212426722	30772651	30	91899											
ABCA12	26154	broad.mit.edu	37	chr2	215818800	215818800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaaaatcaggaaaatgCgcttgagggtttcagaaata	13	4	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:215818800C>T	uc002vew.2	-	44	6645	c.6425G>A	c.(6424-6426)CGC>CAC	p.R2142H	ABCA12_uc002vev.2_Missense_Mutation_p.R1824H|ABCA12_uc010zjn.1_Missense_Mutation_p.R1069H	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2142					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		CAGGAAAATGCGCTTGAGGGT	0.333													T	215818800	C	T	215818800	3	4	167	1	0	0	0	0	1	0	0	0	30	768	27	1	1402	1	ABCA12	2	215818800	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	3392078	215818800	27380573	31	91900											
CXCR2	3579	broad.mit.edu	37	chr2	219000083	219000083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacttttccgaaggaccGtctactcatccaatgttagc	6	12	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:219000083G>A	uc002vgz.1	+	4	784	c.559G>A	c.(559-561)GTC>ATC	p.V187I	CXCR2_uc002vha.1_Missense_Mutation_p.V187I|CXCR2_uc002vhb.1_Missense_Mutation_p.V187I	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	187	Extracellular (Potential).				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			lung(1)|breast(1)	2						CCGAAGGACCGTCTACTCATC	0.527													A	219000083	G	A	219000083	3	1	167	1	0	0	0	0	1	0	0	0	4091	1145	40	1	561	1	CXCR2	2	219000083	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3181283	219000083	24199290	32	91901											
ALPP	250	broad.mit.edu	37	chr2	233246019	233246019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtcctcctatacggaaaCggtccaggctatgtgctcaa	10	12	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr2:233246019C>T	uc002vsq.2	+	10	1416	c.1251C>T	c.(1249-1251)AAC>AAT	p.N417N	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	417						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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)		TATACGGAAACGGTCCAGGCT	0.657													T	233246019	C	T	233246019	2	4	167	1	0	0	0	0	0	0	0	1	548	535	19	1		1	ALPP	2	233246019	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	14245936	233246019	9953354	33	91902											
MITF	4286	broad.mit.edu	37	chr3	70014029	70014029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctcgagctcatggacTttcccttattccatccacgg	9	14	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:70014029T>C	uc003dnz.2	+	10	1309	c.1193T>C	c.(1192-1194)CTT>CCT	p.L398P	MITF_uc011bgb.1_Missense_Mutation_p.L346P|MITF_uc003doa.2_Missense_Mutation_p.L397P|MITF_uc003dob.2_Missense_Mutation_p.L382P|MITF_uc003dod.2_Missense_Mutation_p.L373P|MITF_uc003doe.2_Missense_Mutation_p.L291P|MITF_uc003dof.2_Missense_Mutation_p.L297P	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	404	DNA binding regulation.				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			ovary(2)	2		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)		GCTCATGGACTTTCCCTTATT	0.363			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						C	70014029	T	C	70014029	3	2	167	1	0	0	0	0	1	0	0	0	9596	1609	56	3	1470	3	MITF	3	70014029	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08		70014029	128008401	34	91903											
ROBO1	6091	broad.mit.edu	37	chr3	78667086	78667086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgtcttcttcctcttcTggcgcatccgtatccatatc	6	15	4	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:78667086T>C	uc003dqe.2	-	27	4189	c.3981A>G	c.(3979-3981)CCA>CCG	p.P1327P	ROBO1_uc003dqb.2_Silent_p.P1288P|ROBO1_uc003dqc.2_Silent_p.P1227P|ROBO1_uc003dqd.2_Silent_p.P1282P|ROBO1_uc010hoh.2_Silent_p.P519P|ROBO1_uc011bgl.1_Silent_p.P899P	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1327	Cytoplasmic (Potential).				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			large_intestine(2)	2		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)		CTTCCTCTTCTGGCGCATCCG	0.557													C	78667086	T	C	78667086	2	2	167	1	0	0	0	0	0	0	0	1	13513	1567	55	3		3	ROBO1	3	78667086	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	8653057	78667086	119355344	35	91904											
EPHA3	2042	broad.mit.edu	37	chr3	89259476	89259476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgcccatttacagtgaAgaatctggctatgtttccag	9	8	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:89259476A>C	uc003dqy.2	+	3	845	c.620A>C	c.(619-621)AAG>ACG	p.K207T	EPHA3_uc003dqx.1_Missense_Mutation_p.K207T|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	207	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		TTTACAGTGAAGAATCTGGCT	0.453										TSP Lung(6;0.00050)			C	89259476	A	C	89259476	3	2	167	1	0	0	0	0	1	0	0	0	5168	72	3	5	630	5	EPHA3	3	89259476	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	10592390	89259476	108762954	36	91905											
EPHA3	2042	broad.mit.edu	37	chr3	89468391	89468391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtggtcgcttaaaacTtccttcaaaaaaagagattt	8	7	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:89468391T>G	uc003dqy.2	+	11	2150	c.1925T>G	c.(1924-1926)CTT>CGT	p.L642R	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	642	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		CGCTTAAAACTTCCTTCAAAA	0.393										TSP Lung(6;0.00050)			G	89468391	T	G	89468391	3	3	167	1	0	0	0	0	1	0	0	0	5168	1609	56	5	1993	5	EPHA3	3	89468391	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	208915	89468391	108554039	37	91906											
CCDC52	152185	broad.mit.edu	37	chr3	113187981	113187981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaagagcagatgatggcGttcctggaggagttatttgt	14	4	0	4	rs148983792	byFrequency	TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:113187981G>A	uc003eag.3	-	8	1007	c.716C>T	c.(715-717)ACG>ATG	p.T239M	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.T135M	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	239					cell division|mitosis	centriole|spindle	protein binding				0						AGATGATGGCGTTCCTGGAGG	0.398													A	113187981	G	A	113187981	3	1	167	1	0	0	0	0	1	0	0	0	2822	1145	40	1	1895	1	CCDC52	3	113187981	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	23719590	113187981	84834449	38	91907											
GOLGB1	2804	broad.mit.edu	37	chr3	121448164	121448164	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agttttagttttttaattttGttatcagcagcttttctctc	5	6	2	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:121448164G>C	uc003eei.3	-	4	399	c.273C>G	c.(271-273)AAC>AAG	p.N91K	GOLGB1_uc010hrc.2_Missense_Mutation_p.N91K|GOLGB1_uc003eej.3_Missense_Mutation_p.N52K|GOLGB1_uc011bjm.1_Missense_Mutation_p.N52K|GOLGB1_uc010hrd.1_Missense_Mutation_p.N91K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	91	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTTTAATTTTGTTATCAGCAG	0.323													C	121448164	G	C	121448164	3	2	167	1	0	0	0	0	1	0	0	0	6565	1368	48	5	9582	5	GOLGB1	3	121448164	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	8260183	121448164	76574266	39	91908											
MSL2	55167	broad.mit.edu	37	chr3	135870294	135870294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagggcagcgttggcctcGgcatgtaagaacacttggat	14	9	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:135870294G>A	uc003eqx.1	-	2	2162	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	MSL2_uc011bmb.1_Nonsense_Mutation_p.R403*	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	477					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						CGTTGGCCTCGGCATGTAAGA	0.478													A	135870294	G	A	135870294	4	1	167	1	0	0	0	0	0	1	0	0	9878	1124	39	1	308	1	MSL2	3	135870294	Nonsense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	14422130	135870294	62152136	40	91909											
SR140	23350	broad.mit.edu	37	chr3	142756989	142756989	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagaatgagcctatatTtaaagttgccccatcaaaat	5	7	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:142756989T>G	uc003evh.1	+	22	2360	c.2261T>G	c.(2260-2262)TTT>TGT	p.F754C	SR140_uc003evi.1_Missense_Mutation_p.F345C|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.F753C|SR140_uc003evl.1_Missense_Mutation_p.F321C	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	754					RNA processing	nucleus	nucleotide binding|RNA binding				0						GAGCCTATATTTAAAGTTGCC	0.348													G	142756989	T	G	142756989	3	3	167	1	0	0	0	0	1	0	0	0	15130	1841	64	5	2347	5	SR140	3	142756989	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	6886695	142756989	55265441	41	91910											
CP	1356	broad.mit.edu	37	chr3	148939541	148939547	+	Frame_Shift_Del	DEL	ACATAAA	ACATAAA	-													ttcgcccaggctggggtactAcataaaaacagaaaaatacc					rs149864882	byFrequency	TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:148939540_148939546TACATAAA>T	uc003ewy.4	-	0	287_293	c.34_40TTTATGTA>A	c.(34-42)ttatgtagtfs	p.L12fs	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Frame_Shift_Del_p.L12fs	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	12					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)	GCTGGGGTACTACATAAAAACAGAAAA	0.353													-	148939547	ACATAAA	-	148939541	7	5	167	1	0	1	0	1	0	0	0	0	3787	389	14	0	3234	0	CP	3	148939541	Frame_Shift_Del	DEL	ACATAAA	TCGA-CG-4436-01A-01D-1158-08	6182552	148939541	49082889	42	91911											
P2RY14	9934	broad.mit.edu	37	chr3	150931143	150931143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttgattctggaaatgTctaggtcattctgagctttt	8	7	5	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:150931143T>C	uc003eyr.1	-	3	1440	c.962A>G	c.(961-963)GAC>GGC	p.D321G	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.D321G	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	321	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGGAAATGTCTAGGTCATT	0.378													C	150931143	T	C	150931143	3	2	167	1	0	0	0	0	1	0	0	0	11351	1667	58	3	58	3	P2RY14	3	150931143	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	1991602	150931143	47091287	43	91912											
IGSF10	285313	broad.mit.edu	37	chr3	151156235	151156235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcttgtggtcaattttGgcaggtttcagtcttaggct	11	7	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:151156235G>A	uc011bod.1	-	6	6114	c.6114C>T	c.(6112-6114)GCC>GCT	p.A2038A	IGSF10_uc011bob.1_Silent_p.A65A|IGSF10_uc011boc.1_Silent_p.A17A	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2038	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCAATTTTGGCAGGTTTCA	0.433													A	151156235	G	A	151156235	2	1	167	1	0	0	0	0	0	0	0	1	7597	1335	47	4		4	IGSF10	3	151156235	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	225092	151156235	46866195	44	91913											
FNDC3B	64778	broad.mit.edu	37	chr3	172061989	172061989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagctggagtgcaccgtcGgcaacctgcttcctggaacc	12	14	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:172061989G>A	uc003fhy.2	+	19	2363	c.2191G>A	c.(2191-2193)GGC>AGC	p.G731S	FNDC3B_uc003fhz.3_Missense_Mutation_p.G731S	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	731	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	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)		GTGCACCGTCGGCAACCTGCT	0.562													A	172061989	G	A	172061989	3	1	167	1	0	0	0	0	1	0	0	0	5970	1116	39	1	2261	1	FNDC3B	3	172061989	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	20905754	172061989	25960441	45	91914											
KCNMB3	27094	broad.mit.edu	37	chr3	178984528	178984528	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgagaaaatggctcccTttcacctgagtcatgcccct	9	13	3	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:178984528T>A	uc003fjp.1	-	1	311	c.-29A>T	c.(-31--27)AAAGG>AATGG		KCNMB3_uc011bqc.1_Translation_Start_Site	NM_171828	NP_741979	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3						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				0	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)			AATGGCTCCCTTTCACCTGAG	0.627													A	178984528	T	A	178984528	1	1	167	1	0	0	0	0	0	0	0	0	8076	1624	56	5		5	KCNMB3	3	178984528	Translation_Start_Site	SNP	T	TCGA-CG-4436-01A-01D-1158-08	6922539	178984528	19037902	46	91915											
ECE2	9718	broad.mit.edu	37	chr3	184008402	184008402	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccaactaagaatgagatCgtcttccccgctggcatcct	7	14	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:184008402C>T	uc003fni.3	+	15	2105	c.2067C>T	c.(2065-2067)ATC>ATT	p.I689I	ECE2_uc011brh.1_Silent_p.I542I|ECE2_uc003fnl.3_Silent_p.I617I|ECE2_uc003fnm.3_Silent_p.I571I|ECE2_uc003fnk.3_Silent_p.I542I|ECE2_uc011bri.1_Silent_p.I604I|ECE2_uc010hxv.2_Silent_p.I333I	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	689	Lumenal (Potential).|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			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAATGAGATCGTCTTCCCCG	0.507													T	184008402	C	T	184008402	2	4	167	1	0	0	0	0	0	0	0	1	4890	874	31	1		1	ECE2	3	184008402	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	5023874	184008402	14014028	47	91916											
IGF2BP2	10644	broad.mit.edu	37	chr3	185369933	185369933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccatcctttcgctgacGtctgggccttccgcaggggc	12	14	1	2	rs147590133	byFrequency	TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr3:185369933G>A	uc003fpo.2	-	13	1489	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	IGF2BP2_uc010hyi.2_Silent_p.D413D|IGF2BP2_uc010hyj.2_Silent_p.D407D|IGF2BP2_uc010hyk.2_Silent_p.D334D|IGF2BP2_uc010hyl.2_Silent_p.D364D|IGF2BP2_uc003fpp.2_Silent_p.D427D|IGF2BP2_uc003fpq.2_Silent_p.D475D	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	470	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTTCGCTGACGTCTGGGCCTT	0.597													A	185369933	G	A	185369933	2	1	167	1	0	0	0	0	0	0	0	1	7574	1136	40	1		1	IGF2BP2	3	185369933	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	1361531	185369933	12652497	48	91917											
CPZ	8532	broad.mit.edu	37	chr4	8602891	8602891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcagtgatgccGcctacaaccacaccaccttc	7	17	1	1	rs145429481		TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:8602891G>A	uc003glm.2	+	3	289	c.163G>A	c.(163-165)GCC>ACC	p.A55T	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.A44T|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	55	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						CAGTGATGCCGCCTACAACCA	0.642													A	8602891	G	A	8602891	3	1	167	1	0	0	0	0	1	0	0	0	3839	1087	38	1	173	1	CPZ	4	8602891	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08		8602891	182551385	49	91918											
EPHA5	2044	broad.mit.edu	37	chr4	66197825	66197825	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcctagtgggctatgTtctgccaataaattagatac	8	9	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:66197825T>C	uc003hcy.2	-	17	3067	c.2874A>G	c.(2872-2874)GAA>GAG	p.E958E	EPHA5_uc003hcx.2_Silent_p.E890E|EPHA5_uc003hcz.2_Silent_p.E936E|EPHA5_uc011cah.1_Silent_p.E959E|EPHA5_uc011cai.1_Silent_p.E937E|EPHA5_uc003hda.2_Silent_p.E959E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	958	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GTGGGCTATGTTCTGCCAATA	0.328										TSP Lung(17;0.13)			C	66197825	T	C	66197825	2	2	167	1	0	0	0	0	0	0	0	1	5170	1722	60	3		3	EPHA5	4	66197825	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	57594934	66197825	124956451	50	91919											
EPHA5	2044	broad.mit.edu	37	chr4	66231771	66231771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagttcttactcctggcagTttaactgtaaatataaattg	6	6	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:66231771T>G	uc003hcy.2	-	11	2122	c.1929A>C	c.(1927-1929)AAA>AAC	p.K643N	EPHA5_uc003hcx.2_Missense_Mutation_p.K575N|EPHA5_uc003hcz.2_Missense_Mutation_p.K621N|EPHA5_uc011cah.1_Missense_Mutation_p.K644N|EPHA5_uc011cai.1_Missense_Mutation_p.K622N|EPHA5_uc003hda.2_Missense_Mutation_p.K644N	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	643	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CTCCTGGCAGTTTAACTGTAA	0.348										TSP Lung(17;0.13)			G	66231771	T	G	66231771	3	3	167	1	0	0	0	0	1	0	0	0	5170	1722	60	5	1216	5	EPHA5	4	66231771	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	33946	66231771	124922505	51	91920											
GC	2638	broad.mit.edu	37	chr4	72620134	72620134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaagtttcttactttttcTtgtactcagtaaatgtattt	4	6	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:72620134T>G	uc003hge.2	-	10	1409	c.1256A>C	c.(1255-1257)AAG>ACG	p.K419T	GC_uc003hgd.2_Missense_Mutation_p.K297T|GC_uc010iie.2_Missense_Mutation_p.K419T|GC_uc010iif.2_Missense_Mutation_p.K438T	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	419	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTACTTTTTCTTGTACTCAGT	0.328													G	72620134	T	G	72620134	3	3	167	1	0	0	0	0	1	0	0	0	6282	1609	56	5	180	5	GC	4	72620134	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	6388363	72620134	118534142	52	91921											
PDHA2	5161	broad.mit.edu	37	chr4	96761480	96761480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcactagggcggaggggcTtaaatactacaggatgatgc	14	8	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:96761480T>G	uc003htr.3	+	1	242	c.179T>G	c.(178-180)CTT>CGT	p.L60R		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	60					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCGGAGGGGCTTAAATACTAC	0.458													G	96761480	T	G	96761480	3	3	167	1	0	0	0	0	1	0	0	0	11665	1609	56	5	181	5	PDHA2	4	96761480	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	24141346	96761480	94392796	53	91922											
FAT4	79633	broad.mit.edu	37	chr4	126240751	126240751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaactggaccgtgaacTtcaagacagatatgttttaa	9	6	1	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:126240751T>G	uc003ifj.3	+	1	3185	c.3185T>G	c.(3184-3186)CTT>CGT	p.L1062R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1062	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACCGTGAACTTCAAGACAGA	0.383													G	126240751	T	G	126240751	3	3	167	1	0	0	0	0	1	0	0	0	5692	1609	56	5	3187	5	FAT4	4	126240751	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	29479271	126240751	64913525	54	91923											
FAT4	79633	broad.mit.edu	37	chr4	126371122	126371122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatgcacctcaatttcTtaaaagtaaatatttcactc	3	9	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:126371122T>G	uc003ifj.3	+	9	8951	c.8951T>G	c.(8950-8952)CTT>CGT	p.L2984R	FAT4_uc011cgp.1_Missense_Mutation_p.L1282R|FAT4_uc003ifi.1_Missense_Mutation_p.L462R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2984	Extracellular (Potential).|Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCTCAATTTCTTAAAAGTAAA	0.338													G	126371122	T	G	126371122	3	3	167	1	0	0	0	0	1	0	0	0	5692	1609	56	5	8985	5	FAT4	4	126371122	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	130371	126371122	64783154	55	91924											
HSPA4L	22824	broad.mit.edu	37	chr4	128726846	128726846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatcttattttcagtgtgCgattctctcaccagcattta	5	10	4	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:128726846C>T	uc003ifm.2	+	10	1395	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	HSPA4L_uc010iny.1_Missense_Mutation_p.A340V|HSPA4L_uc011cgr.1_Missense_Mutation_p.A348V	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	381					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TTTCAGTGTGCGATTCTCTCA	0.353													T	128726846	C	T	128726846	3	4	167	1	0	0	0	0	1	0	0	0	7413	768	27	1	1180	1	HSPA4L	4	128726846	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	2355724	128726846	62427430	56	91925											
PCDH18	54510	broad.mit.edu	37	chr4	138452730	138452730	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcagagagcgagtatgtgtgGagggaattttccccaacatc	13	8	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:138452730G>C	uc003ihe.3	-	1	900	c.513C>G	c.(511-513)CTC>CTG	p.L171L	PCDH18_uc003ihf.3_Silent_p.L164L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	171	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					AGTATGTGTGGAGGGAATTTT	0.463													C	138452730	G	C	138452730	2	2	167	1	0	0	0	0	0	0	0	1	11513	1161	41	5		5	PCDH18	4	138452730	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	9725884	138452730	52701546	57	91926											
FGA	2243	broad.mit.edu	37	chr4	155508714	155508714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaacatttttctgcagaaGctggatatgctgtacttttt	7	7	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:155508714G>T	uc003iod.1	-	4	518	c.460C>A	c.(460-462)CTT>ATT	p.L154I	FGA_uc003ioe.1_Missense_Mutation_p.L154I|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	154	By similarity.				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			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCTGCAGAAGCTGGATATGC	0.438													T	155508714	G	T	155508714	3	4	167	1	0	0	0	0	1	0	0	0	5830	971	34	5	2196	5	FGA	4	155508714	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	17055984	155508714	35645562	58	91927											
FSTL5	56884	broad.mit.edu	37	chr4	162680664	162680664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaagagatccttgccaAgttcttcctgttttatcacc	5	11	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:162680664A>G	uc003iqh.2	-	6	1062	c.626T>C	c.(625-627)CTT>CCT	p.L209P	FSTL5_uc003iqi.2_Missense_Mutation_p.L208P|FSTL5_uc010iqv.2_Missense_Mutation_p.L208P	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	209	EF-hand 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATCCTTGCCAAGTTCTTCCTG	0.269													G	162680664	A	G	162680664	3	3	167	1	0	0	0	0	1	0	0	0	6080	72	3	3	1961	3	FSTL5	4	162680664	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	7171950	162680664	28473612	59	91928											
ODZ3	55714	broad.mit.edu	37	chr4	183714348	183714348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtctgacaccccttcgcTatgacctgcgagacagaatc	9	15	1	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:183714348T>C	uc003ivd.1	+	25	6560	c.6523T>C	c.(6523-6525)TAT>CAT	p.Y2175H		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2175	Extracellular (Potential).|YD 20.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCCCTTCGCTATGACCTGCG	0.453													C	183714348	T	C	183714348	3	2	167	1	0	0	0	0	1	0	0	0	10836	1522	53	3	6621	3	ODZ3	4	183714348	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	21033684	183714348	7439928	60	91929											
TRIML1	339976	broad.mit.edu	37	chr4	189068074	189068074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagcagacagcagctacccGacaacccggaaagatttgac	10	12	0	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr4:189068074G>A	uc003izm.1	+	6	1070	c.955G>A	c.(955-957)GAC>AAC	p.D319N	TRIML1_uc003izn.1_Missense_Mutation_p.D43N	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	319	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		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)		GCAGCTACCCGACAACCCGGA	0.542													A	189068074	G	A	189068074	3	1	167	1	0	0	0	0	1	0	0	0	16547	1058	37	1	977	1	TRIML1	4	189068074	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	5353726	189068074	2086202	61	91930											
AGXT2	64902	broad.mit.edu	37	chr5	35033594	35033594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgtcccaccagggagttCcatcttgtaggtccctacgt	9	14	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr5:35033594C>T	uc003jjf.2	-	6	725	c.646G>A	c.(646-648)GAA>AAA	p.E216K	AGXT2_uc011com.1_Missense_Mutation_p.E216K|AGXT2_uc011con.1_Missense_Mutation_p.E124K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	216					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			ovary(3)|skin(1)	4	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)	CCAGGGAGTTCCATCTTGTAG	0.473													T	35033594	C	T	35033594	3	4	167	1	0	0	0	0	1	0	0	0	405	864	30	4	934	4	AGXT2	5	35033594	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08		35033594	145881666	62	91931											
HCN1	348980	broad.mit.edu	37	chr5	45645499	45645499	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaataattcatcttgaTcactttggggtccaggatga	8	6	3	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr5:45645499T>A	uc003jok.2	-	2	662	c.637A>T	c.(637-639)ATC>TTC	p.I213F		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	213	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTCATCTTGATCACTTTGGGG	0.378													A	45645499	T	A	45645499	3	1	167	1	0	0	0	0	1	0	0	0	6996	1435	50	5	2063	5	HCN1	5	45645499	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	10611905	45645499	135269761	63	91932											
PCDHB10	56126	broad.mit.edu	37	chr5	140572542	140572542	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcaggacaaagaaacagtCttaaaaatatcagaaaatac	5	6	3	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr5:140572542C>G	uc003lix.2	+	1	591	c.417C>G	c.(415-417)GTC>GTG	p.V139V		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	139	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAACAGTCTTAAAAATAT	0.408													G	140572542	C	G	140572542	2	3	167	1	0	0	0	0	0	0	0	1	11535	900	32	5		5	PCDHB10	5	140572542	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	94927043	140572542	40342718	64	91933											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773068	140773068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagcacagtgcgcatccacGtgacagtgttggatacaaat	10	10	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr5:140773068G>A	uc003lkd.1	+	1	1586	c.688G>A	c.(688-690)GTG>ATG	p.V230M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V230M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	230	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCATCCACGTGACAGTGTT	0.607													A	140773068	G	A	140773068	3	1	167	1	0	0	0	0	1	0	0	0	11560	1145	40	1	690	1	PCDHGA8	5	140773068	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	200526	140773068	40142192	65	91934											
GABRA1	2554	broad.mit.edu	37	chr5	161322857	161322857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatgcatgggatggcaaaAgtgtggttccagaaaaggta	14	4	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr5:161322857A>G	uc010jiw.2	+	10	1510	c.1042A>G	c.(1042-1044)AGT>GGT	p.S348G	GABRA1_uc010jix.2_Missense_Mutation_p.S348G|GABRA1_uc010jiy.2_Missense_Mutation_p.S348G|GABRA1_uc003lyx.3_Missense_Mutation_p.S348G|GABRA1_uc010jiz.2_Missense_Mutation_p.S348G|GABRA1_uc010jja.2_Missense_Mutation_p.S348G|GABRA1_uc010jjb.2_Missense_Mutation_p.S348G	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	348	Cytoplasmic (Probable).				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			ovary(2)|pancreas(1)	3	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)	GGATGGCAAAAGTGTGGTTCC	0.383													G	161322857	A	G	161322857	3	3	167	1	0	0	0	0	1	0	0	0	6160	72	3	3	1072	3	GABRA1	5	161322857	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	20549789	161322857	19592403	66	91935											
MUC21	394263	broad.mit.edu	37	chr6	30955932	30955932	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggagaccagtatcctcGatagccatggagatgagcgg	15	8	0	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:30955932G>A	uc003nsh.2	+	3	1913	c.1662G>A	c.(1660-1662)TCG>TCA	p.S554S	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	554	Cytoplasmic (Potential).|Cytoplasmic tail.					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CAGTATCCTCGATAGCCATGG	0.617													A	30955932	G	A	30955932	2	1	167	1	0	0	0	0	0	0	0	1	9977	1045	37	1		1	MUC21	6	30955932	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08		30955932	140159135	67	91936											
TNXB	7148	broad.mit.edu	37	chr6	32015679	32015679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatccttgtactggaccaCgaaggagtcgaattcgccct	9	12	0	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:32015679C>T	uc003nzl.2	-	30	10352	c.10150G>A	c.(10150-10152)GTG>ATG	p.V3384M	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3431	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TACTGGACCACGAAGGAGTCG	0.632													T	32015679	C	T	32015679	3	4	167	1	0	0	0	0	1	0	0	0	16343	536	19	1	4623	1	TNXB	6	32015679	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	1059747	32015679	139099388	68	91937											
BRD2	6046	broad.mit.edu	37	chr6	32945673	32945673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggaaagtagcagtgagagctCctctgaggaagaggaggagg	18	5	1	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:32945673C>G	uc003ocn.3	+	9	3170	c.1469C>G	c.(1468-1470)TCC>TGC	p.S490C	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.S490C|BRD2_uc003ocp.3_Missense_Mutation_p.S370C|BRD2_uc010juh.2_Missense_Mutation_p.S490C	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	490	Glu/Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGTGAGAGCTCCTCTgaggaa	0.408													G	32945673	C	G	32945673	3	3	167	1	0	0	0	0	1	0	0	0	1502	855	30	5	1499	5	BRD2	6	32945673	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	929994	32945673	138169394	69	91938											
SCUBE3	222663	broad.mit.edu	37	chr6	35199583	35199583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctatgagtgccactgccGggaaggcttcttcctcagcg	12	13	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:35199583G>A	uc003okf.1	+	4	422	c.416G>A	c.(415-417)CGG>CAG	p.R139Q	SCUBE3_uc003okg.1_Missense_Mutation_p.R139Q|SCUBE3_uc003okh.1_Missense_Mutation_p.R10Q	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	139	EGF-like 3; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TGCCACTGCCGGGAAGGCTTC	0.607													A	35199583	G	A	35199583	3	1	167	1	0	0	0	0	1	0	0	0	13946	1116	39	1	430	1	SCUBE3	6	35199583	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	2253910	35199583	135915484	70	91939											
NCR2	9436	broad.mit.edu	37	chr6	41309551	41309551	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgcctccacacagacCtcctggactccccgcgacct	7	21	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:41309551C>A	uc003oqh.2	+	3	501	c.414C>A	c.(412-414)ACC>ACA	p.T138T	NCR2_uc003oqi.2_Silent_p.T138T|NCR2_uc003oqj.2_Silent_p.T138T	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	138	Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCACACAGACCTCCTGGACTC	0.622													A	41309551	C	A	41309551	2	1	167	1	0	0	0	0	0	0	0	1	10238	668	24	5		5	NCR2	6	41309551	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	6109968	41309551	129805516	71	91940											
RIMS1	22999	broad.mit.edu	37	chr6	72678732	72678732	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgcaaaacaccaAgaaatgctgaaaaccagccc	7	14	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:72678732A>C	uc003pga.2	+	2	288	c.211A>C	c.(211-213)AGA>CGA	p.R71R		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	71	RabBD.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAAACACCAAGAAATGCTGA	0.453													C	72678732	A	C	72678732	2	2	167	1	0	0	0	0	0	0	0	1	13367	64	3	5		5	RIMS1	6	72678732	Silent	SNP	A	TCGA-CG-4436-01A-01D-1158-08	31369181	72678732	98436335	72	91941											
KCNQ5	56479	broad.mit.edu	37	chr6	73751677	73751677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagttcgtgatgattgtcGtctttggtttggagttcatc	13	5	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:73751677G>A	uc003pgk.2	+	3	855	c.508G>A	c.(508-510)GTC>ATC	p.V170I	KCNQ5_uc003pgj.3_Missense_Mutation_p.V170I|KCNQ5_uc011dyh.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyi.1_Missense_Mutation_p.V170I|KCNQ5_uc010kat.2_Missense_Mutation_p.V170I|KCNQ5_uc011dyj.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyk.1_Intron	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	170	Helical; Name=Segment S2; (Potential).				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATGATTGTCGTCTTTGGTTT	0.423													A	73751677	G	A	73751677	3	1	167	1	0	0	0	0	1	0	0	0	8086	1145	40	1	518	1	KCNQ5	6	73751677	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	1072945	73751677	97363390	73	91942											
EEF1A1	1915	broad.mit.edu	37	chr6	74229182	74229182	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcaatggtgataccacgttCacgctcagctttcagtttat	7	10	4	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:74229182C>G	uc003phi.2	-	2	239	c.202G>C	c.(202-204)GAA>CAA	p.E68Q	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phf.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phg.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phh.2_Intron|EEF1A1_uc003phj.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phk.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phl.2_Missense_Mutation_p.E68Q|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	68						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						ATACCACGTTCACGCTCAGCT	0.418											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	74229182	C	G	74229182	3	3	167	1	0	0	0	0	1	0	0	0	4923	835	29	5	1210	5	EEF1A1	6	74229182	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	477505	74229182	96885885	74	91943											
TBX18	9096	broad.mit.edu	37	chr6	85470009	85470009	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccactggtacaatatccatgGcaatgtaatattgctggtga	9	8	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:85470009G>C	uc003pkl.1	-	3	563	c.563C>G	c.(562-564)GCC>GGC	p.A188G	TBX18_uc010kbq.1_Missense_Mutation_p.A30G	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	188	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		AATATCCATGGCAATGTAATA	0.398													C	85470009	G	C	85470009	3	2	167	1	0	0	0	0	1	0	0	0	15650	1203	42	5	1284	5	TBX18	6	85470009	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	11240827	85470009	85645058	75	91944											
ASCC3	10973	broad.mit.edu	37	chr6	101246604	101246604	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctcacctcatctaagtcttgGatataaactggcttttcctc	5	12	4	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr6:101246604G>C	uc003pqk.2	-	8	1709	c.1380C>G	c.(1378-1380)ATC>ATG	p.I460M	ASCC3_uc011eai.1_Missense_Mutation_p.I362M|ASCC3_uc003pql.2_Missense_Mutation_p.I460M	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		CTAAGTCTTGGATATAAACTG	0.368													C	101246604	G	C	101246604	3	2	167	1	0	0	0	0	1	0	0	0	1033	1164	41	5	5368	5	ASCC3	6	101246604	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	15776595	101246604	69868463	76	91945											
TXNDC3	51314	broad.mit.edu	37	chr7	37907401	37907401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcctccctctgaagaaaCcgaaccacagactgacaccg	6	16	1	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:37907401C>A	uc003tfn.2	+	11	1091	c.719C>A	c.(718-720)ACC>AAC	p.T240N		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	240	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCTGAAGAAACCGAACCACAG	0.438									Kartagener_syndrome				A	37907401	C	A	37907401	3	1	167	1	0	0	0	0	1	0	0	0	16795	507	18	5	753	5	TXNDC3	7	37907401	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08		37907401	121231262	77	91946											
PCLO	27445	broad.mit.edu	37	chr7	82585562	82585562	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcttcagaacctgaAgcatcttcatcagcactcat	4	13	8	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:82585562A>C	uc003uhx.2	-	5	4996	c.4707T>G	c.(4705-4707)GCT>GCG	p.A1569A	PCLO_uc003uhv.2_Silent_p.A1569A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1500					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGAACCTGAAGCATCTTCAT	0.418													C	82585562	A	C	82585562	2	2	167	1	0	0	0	0	0	0	0	1	11583	59	3	5		5	PCLO	7	82585562	Silent	SNP	A	TCGA-CG-4436-01A-01D-1158-08	44678161	82585562	76553101	78	91947											
PCLO	27445	broad.mit.edu	37	chr7	82586037	82586037	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggactgtactttctaacTtagccaaatctgaggggctg	10	8	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:82586037T>G	uc003uhx.2	-	5	4521	c.4232A>C	c.(4231-4233)AAG>ACG	p.K1411T	PCLO_uc003uhv.2_Missense_Mutation_p.K1411T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1342					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTTTCTAACTTAGCCAAATC	0.403													G	82586037	T	G	82586037	3	3	167	1	0	0	0	0	1	0	0	0	11583	1609	56	5	11297	5	PCLO	7	82586037	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	475	82586037	76552626	79	91948											
ZNF804B	219578	broad.mit.edu	37	chr7	88965033	88965033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcagaaaccacagaaTcaaacactgcagaaggagag	9	11	2	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:88965033T>G	uc011khi.1	+	4	3275	c.2737T>G	c.(2737-2739)TCA>GCA	p.S913A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	913						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACCACAGAATCAAACACTGC	0.428										HNSCC(36;0.09)			G	88965033	T	G	88965033	3	3	167	1	0	0	0	0	1	0	0	0	18168	1435	50	5	2751	5	ZNF804B	7	88965033	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	6378996	88965033	70173630	80	91949											
COL1A2	1278	broad.mit.edu	37	chr7	94038701	94038701	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtggtgaagtgggtcTtccaggcctctccggccccg	13	16	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:94038701T>A	uc003ung.1	+	17	1331	c.860T>A	c.(859-861)CTT>CAT	p.L287H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	287					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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAAGTGGGTCTTCCAGGCCTC	0.493										HNSCC(75;0.22)			A	94038701	T	A	94038701	3	1	167	1	0	0	0	0	1	0	0	0	3678	1609	56	5	926	5	COL1A2	7	94038701	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	5073668	94038701	65099962	81	91950											
COPS6	10980	broad.mit.edu	37	chr7	99689073	99689073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaatcatgagatcctgcGggaggcctatgctctgtgtc	11	10	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:99689073G>A	uc003usu.2	+	9	804	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	258	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGATCCTGCGGGAGGCCTAT	0.507													A	99689073	G	A	99689073	3	1	167	1	0	0	0	0	1	0	0	0	3737	1116	39	1	807	1	COPS6	7	99689073	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	5650372	99689073	59449590	82	91951											
NAPEPLD	222236	broad.mit.edu	37	chr7	102760348	102760348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcacaaaccatctcaacTcattaccaaatcgctcattc	3	14	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:102760348T>G	uc003vbc.2	-	3	945	c.617A>C	c.(616-618)GAG>GCG	p.E206A	NAPEPLD_uc003vbd.2_Missense_Mutation_p.E206A|NAPEPLD_uc011klj.1_Missense_Mutation_p.E279A|NAPEPLD_uc003vbe.2_RNA	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	206					phospholipid catabolic process	membrane	metal ion binding			skin(1)	1						CCATCTCAACTCATTACCAAA	0.458													G	102760348	T	G	102760348	3	3	167	1	0	0	0	0	1	0	0	0	10163	1551	54	5	576	5	NAPEPLD	7	102760348	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	3071275	102760348	56378315	83	91952											
GRM8	2918	broad.mit.edu	37	chr7	126882958	126882958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcacgtgtcgaggatgcGgacacccagagtgatgttgg	16	8	0	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:126882958G>A	uc003vlr.2	-	1	612	c.301C>T	c.(301-303)CGC>TGC	p.R101C	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R101C|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	101	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCGAGGATGCGGACACCCAGA	0.483										HNSCC(24;0.065)			A	126882958	G	A	126882958	3	1	167	1	0	0	0	0	1	0	0	0	6803	1116	39	1	2515	1	GRM8	7	126882958	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	24122610	126882958	32255705	84	91953											
ABCF2	10061	broad.mit.edu	37	chr7	150923518	150923520	+	In_Frame_Del	DEL	CTT	CTT	-													gcctccttctttttggctgcCttcttcttggccaggtcgga							TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:150923517_150923519CCTT>C	uc003wjo.1	-	1	137_139	c.26_28AAGG>G	c.(25-30)aaggca>aGca	p.9_10KA>S	ABCF2_uc003wjp.3_In_Frame_Del_p.9_10KA>S	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	9						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTTGGCTGCCTTCTTCTTGGC	0.522													-	150923520	CTT	-	150923518	7	5	167	1	0	1	0	1	0	0	0	0	66	680	24	0	1941	0	ABCF2	7	150923518	In_Frame_Del	DEL	CTT	TCGA-CG-4436-01A-01D-1158-08	24040560	150923518	8215145	85	91954											
MLL3	58508	broad.mit.edu	37	chr7	151860470	151860470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacgttccttacgttcccGttcttgaaaactttcactaa	4	11	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:151860470G>A	uc003wla.2	-	43	10411	c.10192C>T	c.(10192-10194)CGG>TGG	p.R3398W	MLL3_uc003wkz.2_Missense_Mutation_p.R2459W|MLL3_uc003wky.2_Missense_Mutation_p.R907W	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3398	Potential.|Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTACGTTCCCGTTCTTGAAAA	0.468			N		medulloblastoma								A	151860470	G	A	151860470	3	1	167	1	0	0	0	0	1	0	0	0	9622	1144	40	1	4611	1	MLL3	7	151860470	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	936952	151860470	7278193	86	91955											
PTPRN2	5799	broad.mit.edu	37	chr7	157874063	157874063	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaaggtcactgctggtccGagaaccctggaagggataat	13	8	1	2	rs145797552		TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr7:157874063G>A	uc003wno.2	-	11	1771	c.1650C>T	c.(1648-1650)CTC>CTT	p.L550L	PTPRN2_uc003wnp.2_Silent_p.L533L|PTPRN2_uc003wnq.2_Silent_p.L521L|PTPRN2_uc003wnr.2_Silent_p.L512L|PTPRN2_uc011kwa.1_Silent_p.L573L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	550	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	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)		CTGCTGGTCCGAGAACCCTGG	0.433													A	157874063	G	A	157874063	2	1	167	1	0	0	0	0	0	0	0	1	12808	1045	37	1		1	PTPRN2	7	157874063	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	6013593	157874063	1264600	87	91956											
DKK4	27121	broad.mit.edu	37	chr8	42232307	42232307	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgatttcttaatactTggcttccttttgggttggtt	9	7	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr8:42232307T>G	uc003xpb.2	-	3	498	c.387A>C	c.(385-387)CCA>CCC	p.P129P		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	129					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	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;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCTTAATACTTGGCTTCCTTT	0.448													G	42232307	T	G	42232307	2	3	167	1	0	0	0	0	0	0	0	1	4547	1799	63	5		5	DKK4	8	42232307	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08		42232307	104131715	88	91957											
PXDNL	137902	broad.mit.edu	37	chr8	52322010	52322010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgtgggcgcggtacttcGcatggaaacaccggttggag	16	10	0	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr8:52322010G>A	uc003xqu.3	-	17	2275	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	725					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCGGTACTTCGCATGGAAACA	0.652													A	52322010	G	A	52322010	3	1	167	1	0	0	0	0	1	0	0	0	12848	1087	38	1	2245	1	PXDNL	8	52322010	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	10089703	52322010	94042012	89	91958											
FAM110B	90362	broad.mit.edu	37	chr8	59059176	59059176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcatcaatagctccgaGggctctagctcgggctcggg	12	12	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr8:59059176G>A	uc003xtj.1	+	5	1267	c.387G>A	c.(385-387)GAG>GAA	p.E129E		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	129						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATAGCTCCGAGGGCTCTAGCT	0.632													A	59059176	G	A	59059176	2	1	167	1	0	0	0	0	0	0	0	1	5397	991	35	4		4	FAM110B	8	59059176	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	6737166	59059176	87304846	90	91959											
RIMS2	9699	broad.mit.edu	37	chr8	104898169	104898169	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccatagatagaccagacTtgaggcgtactgactcacta	8	11	1	5			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr8:104898169T>G	uc003yls.2	+	2	917	c.676T>G	c.(676-678)TTG>GTG	p.L226V	RIMS2_uc003ylp.2_Missense_Mutation_p.L448V|RIMS2_uc003ylw.2_Missense_Mutation_p.L256V|RIMS2_uc003ylq.2_Missense_Mutation_p.L256V|RIMS2_uc003ylr.2_Missense_Mutation_p.L256V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	479					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGACCAGACTTGAGGCGTAC	0.463										HNSCC(12;0.0054)			G	104898169	T	G	104898169	3	3	167	1	0	0	0	0	1	0	0	0	13368	1606	56	5	1482	5	RIMS2	8	104898169	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	45838993	104898169	41465853	91	91960											
KCNV1	27012	broad.mit.edu	37	chr8	110980483	110980483	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctttagggcttcacgctgtCtaacagctgcttccttgagt	9	11	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr8:110980483C>G	uc003ynr.3	-	3	1679	c.1337G>C	c.(1336-1338)AGA>ACA	p.R446T	KCNV1_uc010mcw.2_Missense_Mutation_p.R446T	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	446	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCACGCTGTCTAACAGCTGC	0.423													G	110980483	C	G	110980483	3	3	167	1	0	0	0	0	1	0	0	0	8094	913	32	5	169	5	KCNV1	8	110980483	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	6082314	110980483	35383539	92	91961											
COL22A1	169044	broad.mit.edu	37	chr8	139626133	139626133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggccccttggtccttgggGaccctgtggcccagtgggtc	16	13	0	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr8:139626133G>A	uc003yvd.2	-	56	4402	c.3955C>T	c.(3955-3957)CCC>TCC	p.P1319S	COL22A1_uc011ljo.1_Missense_Mutation_p.P599S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1319	Pro-rich.|Gly-rich.|Collagen-like 13.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			GGTCCTTGGGGACCCTGTGGC	0.453										HNSCC(7;0.00092)			A	139626133	G	A	139626133	3	1	167	1	0	0	0	0	1	0	0	0	3681	1174	41	4	965	4	COL22A1	8	139626133	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	28645650	139626133	6737889	93	91962											
DENND3	22898	broad.mit.edu	37	chr8	142188188	142188188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcactacgtccagcaggCgctgaccaacgtcttgctga	9	16	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr8:142188188C>T	uc003yvy.2	+	16	2767	c.2489C>T	c.(2488-2490)GCG>GTG	p.A830V	DENND3_uc010mep.2_Missense_Mutation_p.A791V	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	830										ovary(1)	1	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)			GTCCAGCAGGCGCTGACCAAC	0.517													T	142188188	C	T	142188188	3	4	167	1	0	0	0	0	1	0	0	0	4432	768	27	1	2547	1	DENND3	8	142188188	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	2562055	142188188	4175834	94	91963											
SMU1	55234	broad.mit.edu	37	chr9	33068845	33068845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccagcaatgccatgagacGagatggaggcaccacactga	11	12	0	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr9:33068845G>A	uc003zsf.1	-	4	586	c.478C>T	c.(478-480)CGT>TGT	p.R160C	SMU1_uc010mjo.1_Missense_Mutation_p.R160C|SMU1_uc010mjp.1_Missense_Mutation_p.R160C|SMU1_uc011lnu.1_5'UTR	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog	160						cytoplasm|nucleus				ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GCCATGAGACGAGATGGAGGC	0.348													A	33068845	G	A	33068845	3	1	167	1	0	0	0	0	1	0	0	0	14817	1058	37	1	1099	1	SMU1	9	33068845	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08		33068845	108144586	95	91964											
PCSK5	5125	broad.mit.edu	37	chr9	78601082	78601082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaagtggtaaaaaagcGgacaaagagggattatgact	12	5	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr9:78601082G>A	uc004ajz.2	+	3	870	c.332G>A	c.(331-333)CGG>CAG	p.R111Q	PCSK5_uc004ajy.2_Missense_Mutation_p.R111Q|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	111					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			ovary(2)|skin(1)	3						GTAAAAAAGCGGACAAAGAGG	0.443													A	78601082	G	A	78601082	3	1	167	1	0	0	0	0	1	0	0	0	11603	1116	39	1	342	1	PCSK5	9	78601082	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	45532237	78601082	62612349	96	91965											
NTRK2	4915	broad.mit.edu	37	chr9	87570233	87570233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgtgctgatggctgaggGcaacccgcccacggaactga	14	13	0	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr9:87570233G>A	uc004aoa.1	+	18	2863	c.1925G>A	c.(1924-1926)GGC>GAC	p.G642D	NTRK2_uc004any.1_Missense_Mutation_p.G642D|NTRK2_uc004anz.1_Missense_Mutation_p.G658D	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	642	Protein kinase.|Cytoplasmic (Potential).				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			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						ATGGCTGAGGGCAACCCGCCC	0.642										TSP Lung(25;0.17)			A	87570233	G	A	87570233	3	1	167	1	0	0	0	0	1	0	0	0	10707	1203	42	2	2110	2	NTRK2	9	87570233	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	8969151	87570233	53643198	97	91966											
ACTL7B	10880	broad.mit.edu	37	chr9	111618016	111618016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcctcggctctcccgcGtagccgcacttgcagtactg	13	15	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr9:111618016G>A	uc004bdi.2	-	1	260	c.195C>T	c.(193-195)TAC>TAT	p.Y65Y		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	65						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCTCTCCCGCGTAGCCGCACT	0.632													A	111618016	G	A	111618016	2	1	167	1	0	0	0	0	0	0	0	1	201	1140	40	1		1	ACTL7B	9	111618016	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	24047783	111618016	29595415	98	91967											
SVEP1	79987	broad.mit.edu	37	chr9	113173353	113173353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcttacctccagaaagCcattctcaaccttaggtggt	8	12	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr9:113173353C>A	uc010mtz.2	-	37	6975	c.6638G>T	c.(6637-6639)GGC>GTC	p.G2213V	SVEP1_uc010mty.2_Missense_Mutation_p.G139V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2213	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CTCCAGAAAGCCATTCTCAAC	0.458													A	113173353	C	A	113173353	3	1	167	1	0	0	0	0	1	0	0	0	15417	739	26	5	4125	5	SVEP1	9	113173353	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	1555337	113173353	28040078	99	91968											
OR1L3	26735	broad.mit.edu	37	chr9	125437503	125437503	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccactctttgccctctttcTtatcatatacctggtcactt	4	14	5	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr9:125437503T>G	uc011lzb.1	+	1	95	c.95T>G	c.(94-96)CTT>CGT	p.L32R		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCCCTCTTTCTTATCATATAC	0.443													G	125437503	T	G	125437503	3	3	167	1	0	0	0	0	1	0	0	0	10964	1609	56	5	97	5	OR1L3	9	125437503	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	12264150	125437503	15775928	100	91969											
ABL1	25	broad.mit.edu	37	chr9	133759379	133759379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggaccatgagcctgccGtgtctccattgctccctcga	9	16	2	1	rs141983052		TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr9:133759379G>A	uc004bzw.2	+	11	1705	c.1702G>A	c.(1702-1704)GTG>ATG	p.V568M	ABL1_uc004bzv.2_Missense_Mutation_p.V587M	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	568					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			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		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)	TGAGCCTGCCGTGTCTCCATT	0.418			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								A	133759379	G	A	133759379	3	1	167	1	0	0	0	0	1	0	0	0	92	1145	40	1	1884	1	ABL1	9	133759379	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	8321876	133759379	7454052	101	91970											
KIAA1462	57608	broad.mit.edu	37	chr10	30318221	30318221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcccaaacttaggccGgggaaatggggctgagcagc	16	11	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr10:30318221G>A	uc001iux.2	-	2	915	c.856C>T	c.(856-858)CGG>TGG	p.R286W	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R148W|KIAA1462_uc009xle.1_Missense_Mutation_p.R286W	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	286	Pro-rich.									ovary(4)	4						AACTTAGGCCGGGGAAATGGG	0.562													A	30318221	G	A	30318221	3	1	167	1	0	0	0	0	1	0	0	0	8234	1115	39	1	3231	1	KIAA1462	10	30318221	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08		30318221	105216526	102	91971											
PCDH15	65217	broad.mit.edu	37	chr10	56423950	56423950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accatcatcatactggcccaAgcagatttcaaagagagagc	8	11	3	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr10:56423950A>C	uc001jju.1	-	2	468	c.73T>G	c.(73-75)TTG>GTG	p.L25V	PCDH15_uc010qhq.1_Missense_Mutation_p.L25V|PCDH15_uc010qhr.1_Missense_Mutation_p.L25V|PCDH15_uc010qhs.1_Missense_Mutation_p.L25V|PCDH15_uc010qht.1_Missense_Mutation_p.L25V|PCDH15_uc010qhu.1_Missense_Mutation_p.L25V|PCDH15_uc001jjv.1_Missense_Mutation_p.L25V|PCDH15_uc010qhv.1_Missense_Mutation_p.L25V|PCDH15_uc010qhw.1_Missense_Mutation_p.L25V|PCDH15_uc010qhx.1_Missense_Mutation_p.L25V|PCDH15_uc010qhy.1_Missense_Mutation_p.L25V|PCDH15_uc010qhz.1_Missense_Mutation_p.L25V|PCDH15_uc010qia.1_Missense_Mutation_p.L25V|PCDH15_uc010qib.1_Missense_Mutation_p.L25V|PCDH15_uc001jjw.2_Missense_Mutation_p.L25V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	25					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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TACTGGCCCAAGCAGATTTCA	0.388										HNSCC(58;0.16)			C	56423950	A	C	56423950	3	2	167	1	0	0	0	0	1	0	0	0	11511	69	3	5	7585	5	PCDH15	10	56423950	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	26105729	56423950	79110797	103	91972											
MKI67	4288	broad.mit.edu	37	chr10	129905112	129905113	+	Frame_Shift_Ins	INS	-	-	TG													taccatctcctgttggctctINSgtgtgtgtgtgtgtagtctc					rs145960091	by1000genomes	TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr10:129905111_129905112C>CTG	uc001lke.3	-	12	5187_5188	c.4992_4993G>CAG	c.(4990-4995)acagagfs	p.T1664fs	MKI67_uc001lkf.3_Frame_Shift_Ins_p.T1304fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1239fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T814fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1664	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)				CCTGTTGGCTCTGTGTGTGTGT	0.51													TG	129905113	-	TG	129905112	7	5	167	1	0	1	1	0	0	0	0	0	9598	1567	55	0	4790	0	MKI67	10	129905112	Frame_Shift_Ins	INS	-	TCGA-CG-4436-01A-01D-1158-08	73481162	129905112	5629635	104	91973											
TRIM22	10346	broad.mit.edu	37	chr11	5730455	5730455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggggaaatattactgggaAgtagatgtgtctggaaagat	14	3	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:5730455A>C	uc001mbr.2	+	8	1351	c.1074A>C	c.(1072-1074)GAA>GAC	p.E358D	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.E354D|TRIM22_uc010qzm.1_Missense_Mutation_p.E186D|TRIM22_uc009yeu.2_Missense_Mutation_p.E169D|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	358	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				0		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)		ATTACTGGGAAGTAGATGTGT	0.418													C	5730455	A	C	5730455	3	2	167	1	0	0	0	0	1	0	0	0	16493	69	3	5	1100	5	TRIM22	11	5730455	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08		5730455	129276061	105	91974											
NLRP14	338323	broad.mit.edu	37	chr11	7064388	7064388	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctgggccgcttgtacTtgtctgaagcagcaaatgga	14	8	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:7064388T>G	uc001mfb.1	+	4	1454	c.1131T>G	c.(1129-1131)ACT>ACG	p.T377T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	377	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCGCTTGTACTTGTCTGAAGC	0.463													G	7064388	T	G	7064388	2	3	167	1	0	0	0	0	0	0	0	1	10476	1596	56	5		5	NLRP14	11	7064388	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	1333933	7064388	127942128	106	91975											
OR10A6	390093	broad.mit.edu	37	chr11	7950014	7950014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaggtccaccacagataAgttcaggagaaacaggtaca	9	10	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:7950014A>C	uc010rbh.1	-	1	196	c.196T>G	c.(196-198)TTA>GTA	p.L66V		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACCACAGATAAGTTCAGGAGA	0.443													C	7950014	A	C	7950014	3	2	167	1	0	0	0	0	1	0	0	0	10894	69	3	5	751	5	OR10A6	11	7950014	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	885626	7950014	127056502	107	91976											
AMPD3	272	broad.mit.edu	37	chr11	10500162	10500162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccccggcagccagtcCggccatgtctcccacaaccc	10	21	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:10500162C>T	uc001mio.1	+	3	646	c.311C>T	c.(310-312)CCG>CTG	p.P104L	AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Missense_Mutation_p.P113L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.P104L|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.P111L|AMPD3_uc009yfy.2_Missense_Mutation_p.P104L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	104					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCAGCCAGTCCGGCCATGTCT	0.592													T	10500162	C	T	10500162	3	4	167	1	0	0	0	0	1	0	0	0	587	652	23	1	368	1	AMPD3	11	10500162	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	2550148	10500162	124506354	108	91977											
COPB1	1315	broad.mit.edu	37	chr11	14497331	14497331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatatgtgccataaattacCtgtcttcctctttcttggtg	7	9	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:14497331C>T	uc001mli.2	-	13	1923	c.1616G>A	c.(1615-1617)AGA>AAA	p.R539K	COPB1_uc001mlg.2_Missense_Mutation_p.R539K|COPB1_uc001mlh.2_Missense_Mutation_p.R539K	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	539					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			ovary(1)|central_nervous_system(1)	2						CATAAATTACCTGTCTTCCTC	0.403													T	14497331	C	T	14497331	3	4	167	1	0	0	0	0	1	0	0	0	3728	695	24	4	1285	4	COPB1	11	14497331	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	3997169	14497331	120509185	109	91978											
QSER1	79832	broad.mit.edu	37	chr11	32954335	32954335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgactttttctgggtcaTctcagactgtaactcctgaa	7	10	3	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:32954335T>G	uc001mty.2	+	4	1411	c.1144T>G	c.(1144-1146)TCT>GCT	p.S382A	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	382	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TTCTGGGTCATCTCAGACTGT	0.383													G	32954335	T	G	32954335	3	3	167	1	0	0	0	0	1	0	0	0	12882	1435	50	5	1150	5	QSER1	11	32954335	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	18457004	32954335	102052181	110	91979											
OR4A15	81328	broad.mit.edu	37	chr11	55135904	55135904	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggattggaggctttcTtcactcattggttcaatttc	10	9	4	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:55135904T>G	uc010rif.1	+	1	545	c.545T>G	c.(544-546)CTT>CGT	p.L182R		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	182	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGAGGCTTTCTTCACTCATTG	0.423													G	55135904	T	G	55135904	3	3	167	1	0	0	0	0	1	0	0	0	11040	1609	56	5	547	5	OR4A15	11	55135904	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	22181569	55135904	79870612	111	91980											
OR4C15	81309	broad.mit.edu	37	chr11	55322128	55322128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctatgtacttcttcTtgggcttcctgtccttcctg	7	13	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:55322128T>C	uc010rig.1	+	1	346	c.346T>C	c.(346-348)TTG>CTG	p.L116L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTACTTCTTCTTGGGCTTCCT	0.448										HNSCC(20;0.049)			C	55322128	T	C	55322128	2	2	167	1	0	0	0	0	0	0	0	1	11048	1606	56	3		3	OR4C15	11	55322128	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	186224	55322128	79684388	112	91981											
OR4C15	81309	broad.mit.edu	37	chr11	55322572	55322572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttatctgcatcataaacTtctccttgttgcttgtctcc	6	11	4	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:55322572T>C	uc010rig.1	+	1	790	c.790T>C	c.(790-792)TTC>CTC	p.F264L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CATCATAAACTTCTCCTTGTT	0.478										HNSCC(20;0.049)			C	55322572	T	C	55322572	3	2	167	1	0	0	0	0	1	0	0	0	11048	1609	56	3	792	3	OR4C15	11	55322572	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	444	55322572	79683944	113	91982											
OR5L2	26338	broad.mit.edu	37	chr11	55595575	55595575	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgatctacagcctgagaaAtaaggatgtgaacaaagctc	9	9	1	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:55595575A>T	uc001nhy.1	+	1	881	c.881A>T	c.(880-882)AAT>ATT	p.N294I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				AGCCTGAGAAATAAGGATGTG	0.468										HNSCC(27;0.073)			T	55595575	A	T	55595575	3	4	167	1	0	0	0	0	1	0	0	0	11171	101	4	5	883	5	OR5L2	11	55595575	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	273003	55595575	79410941	114	91983											
OR5W2	390148	broad.mit.edu	37	chr11	55681965	55681965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaatgatataaacagccaAgaatacagcaaatagggtca	7	6	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:55681965A>G	uc010rir.1	-	1	94	c.94T>C	c.(94-96)TTG>CTG	p.L32L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TAAACAGCCAAGAATACAGCA	0.353													G	55681965	A	G	55681965	2	3	167	1	0	0	0	0	0	0	0	1	11185	69	3	3		3	OR5W2	11	55681965	Silent	SNP	A	TCGA-CG-4436-01A-01D-1158-08	86390	55681965	79324551	115	91984											
SLC29A2	3177	broad.mit.edu	37	chr11	66134027	66134027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggactactgggaatccCgttctcatctggggtgaggg	16	9	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:66134027C>T	uc001oht.2	-	8	971	c.742G>A	c.(742-744)GGG>AGG	p.G248R	SLC29A2_uc001ohs.2_Missense_Mutation_p.G128R|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.G128R|SLC29A2_uc001ohu.2_Missense_Mutation_p.G248R|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	248					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						CTGGGAATCCCGTTCTCATCT	0.577													T	66134027	C	T	66134027	3	4	167	1	0	0	0	0	1	0	0	0	14535	652	23	1	648	1	SLC29A2	11	66134027	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	10452062	66134027	68872489	116	91985											
PDE2A	5138	broad.mit.edu	37	chr11	72291953	72291953	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccacctggaaagagttgtTtgtgcctctgtggtccaggt	14	9	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:72291953T>A	uc010rrc.1	-	24	2353	c.2110A>T	c.(2110-2112)AAC>TAC	p.N704Y	PDE2A_uc001oso.2_Missense_Mutation_p.N683Y|PDE2A_uc010rra.1_Missense_Mutation_p.N697Y|PDE2A_uc001osn.2_Missense_Mutation_p.N448Y|PDE2A_uc010rrb.1_Missense_Mutation_p.N695Y|PDE2A_uc010rrd.1_Missense_Mutation_p.N589Y	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	704	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AAAGAGTTGTTTGTGCCTCTG	0.532													A	72291953	T	A	72291953	3	1	167	1	0	0	0	0	1	0	0	0	11636	1841	64	5	747	5	PDE2A	11	72291953	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	6157926	72291953	62714563	117	91986											
FAT3	120114	broad.mit.edu	37	chr11	92531044	92531044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaaccggtcctaggcaTcatcaccatttgcaaagaac	8	12	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:92531044T>A	uc001pdj.3	+	9	4882	c.4865T>A	c.(4864-4866)ATC>AAC	p.I1622N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1622	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCTAGGCATCATCACCATT	0.443										TCGA Ovarian(4;0.039)			A	92531044	T	A	92531044	3	1	167	1	0	0	0	0	1	0	0	0	5691	1435	50	5	4899	5	FAT3	11	92531044	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	20239091	92531044	42475472	118	91987											
TMEM133	83935	broad.mit.edu	37	chr11	100863358	100863358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatccctcattgtcaccGttatccccctgcttcaaaat	4	15	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:100863358G>A	uc001pgf.2	+	1	548	c.319G>A	c.(319-321)GTT>ATT	p.V107I		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	107	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CATTGTCACCGTTATCCCCCT	0.413													A	100863358	G	A	100863358	3	1	167	1	0	0	0	0	1	0	0	0	16046	1145	40	1	321	1	TMEM133	11	100863358	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	8332314	100863358	34143158	119	91988											
DDI1	414301	broad.mit.edu	37	chr11	103908678	103908678	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaggatggtaagtgggcaAgatgagtcttcggacaagga	15	5	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:103908678A>C	uc001phr.2	+	1	1371	c.1128A>C	c.(1126-1128)CAA>CAC	p.Q376H	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	376					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		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)		TAAGTGGGCAAGATGAGTCTT	0.443													C	103908678	A	C	103908678	3	2	167	1	0	0	0	0	1	0	0	0	4328	69	3	5	1130	5	DDI1	11	103908678	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	3045320	103908678	31097838	120	91989											
FEZ1	9638	broad.mit.edu	37	chr11	125359440	125359440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggttctcggtcttggcGttgtagttccgaaagcagac	13	9	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:125359440G>A	uc001qbx.2	-	2	386	c.234C>T	c.(232-234)AAC>AAT	p.N78N	FEZ1_uc010sbc.1_Silent_p.N78N|FEZ1_uc001qby.1_Silent_p.N78N	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	78					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	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)		CGGTCTTGGCGTTGTAGTTCC	0.458													A	125359440	G	A	125359440	2	1	167	1	0	0	0	0	0	0	0	1	5823	1136	40	1		1	FEZ1	11	125359440	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	21450762	125359440	9647076	121	91990											
OPCML	4978	broad.mit.edu	37	chr11	132527068	132527068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcgtcatacacatccAcattttggatcatgatgctg	7	11	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr11:132527068A>G	uc001qgs.2	-	2	364	c.314T>C	c.(313-315)GTG>GCG	p.V105A	OPCML_uc001qgu.2_Missense_Mutation_p.V98A|OPCML_uc010sck.1_Missense_Mutation_p.V105A|OPCML_uc001qgt.2_Missense_Mutation_p.V105A|OPCML_uc010scl.1_Missense_Mutation_p.V64A	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	105	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	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)		ATACACATCCACATTTTGGAT	0.502													G	132527068	A	G	132527068	3	3	167	1	0	0	0	0	1	0	0	0	10874	159	6	3	747	3	OPCML	11	132527068	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	7167628	132527068	2479448	122	91991											
ATF7IP	55729	broad.mit.edu	37	chr12	14577210	14577210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccataatataactccagaaCcagtctctaaactgcctgct	4	14	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:14577210C>T	uc001rbw.2	+	2	519	c.361C>T	c.(361-363)CCA>TCA	p.P121S	ATF7IP_uc010shs.1_Missense_Mutation_p.P121S|ATF7IP_uc001rbu.2_Missense_Mutation_p.P121S|ATF7IP_uc001rbv.1_Missense_Mutation_p.P121S|ATF7IP_uc001rbx.2_Missense_Mutation_p.P121S|ATF7IP_uc010sht.1_Missense_Mutation_p.P121S|ATF7IP_uc001rby.3_Missense_Mutation_p.P121S|ATF7IP_uc001rbz.1_Missense_Mutation_p.P121S|ATF7IP_uc001rca.2_Missense_Mutation_p.P121S|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	121					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			lung(3)|ovary(1)|skin(1)	5						AACTCCAGAACCAGTCTCTAA	0.463													T	14577210	C	T	14577210	3	4	167	1	0	0	0	0	1	0	0	0	1087	507	18	4	363	4	ATF7IP	12	14577210	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08		14577210	119274685	123	91992											
PLCZ1	89869	broad.mit.edu	37	chr12	18865822	18865822	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataacagttttaaacagaAgtttgcttgtgagtgtgtag	12	3	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:18865822A>C	uc010sid.1	-	6	859	c.668T>G	c.(667-669)CTT>CGT	p.L223R	PLCZ1_uc001rdv.3_Missense_Mutation_p.L119R|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	223	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			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTTAAACAGAAGTTTGCTTGT	0.378													C	18865822	A	C	18865822	3	2	167	1	0	0	0	0	1	0	0	0	12044	72	3	5	1198	5	PLCZ1	12	18865822	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	4288612	18865822	114986073	124	91993											
GYS2	2998	broad.mit.edu	37	chr12	21733310	21733310	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tattcattgcgtccactgctCttctgacagcatcatttaca	5	12	4	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:21733310C>T	uc001rfb.2	-	2	524	c.269G>A	c.(268-270)AGA>AAA	p.R90K		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	90					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			lung(1)|skin(1)	2						GTCCACTGCTCTTCTGACAGC	0.408													T	21733310	C	T	21733310	3	4	167	1	0	0	0	0	1	0	0	0	6913	913	32	4	1902	4	GYS2	12	21733310	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	2867488	21733310	112118585	125	91994											
TM7SF3	51768	broad.mit.edu	37	chr12	27148201	27148201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccttcacctggggcacaCtgaccatcctctgcagatgc	10	15	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:27148201C>A	uc010sjl.1	-	5	897	c.659G>T	c.(658-660)AGT>ATT	p.S220I		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	220						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					CTGGGGCACACTGACCATCCT	0.498													A	27148201	C	A	27148201	3	1	167	1	0	0	0	0	1	0	0	0	15972	565	20	5	1085	5	TM7SF3	12	27148201	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	5414891	27148201	106703694	126	91995											
CPNE8	144402	broad.mit.edu	37	chr12	39087498	39087498	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttccatctggaggcagTtttgcaccaaatcctagagc	8	12	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:39087498T>G	uc001rls.1	-	15	1188	c.1104A>C	c.(1102-1104)AAA>AAC	p.K368N	CPNE8_uc001rlr.1_Missense_Mutation_p.K27N	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	368	VWFA.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGGAGGCAGTTTTGCACCAA	0.353													G	39087498	T	G	39087498	3	3	167	1	0	0	0	0	1	0	0	0	3818	1722	60	5	614	5	CPNE8	12	39087498	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	11939297	39087498	94764397	127	91996											
CPNE8	144402	broad.mit.edu	37	chr12	39268292	39268293	+	Frame_Shift_Del	DEL	TG	TG	-													cttggatcagatttagaaaaTgtgtctctgtcaagaagatt							TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:39268291_39268292ATG>A	uc001rls.1	-	1	204_205	c.120_121CAT>T	c.(118-123)acatttfs	p.T40fs		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	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)				GATTTAGAAAATGTGTCTCTGT	0.262													-	39268293	TG	-	39268292	7	5	167	1	0	1	0	1	0	0	0	0	3818	1451	51	0	1650	0	CPNE8	12	39268292	Frame_Shift_Del	DEL	TG	TCGA-CG-4436-01A-01D-1158-08	180794	39268292	94583603	128	91997											
SLC38A4	55089	broad.mit.edu	37	chr12	47173394	47173394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcatcacatcacttacCacactaacaaaaaacaccat	1	14	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:47173394C>T	uc001rpi.2	-	10	1116	c.717G>A	c.(715-717)GTG>GTA	p.V239V	SLC38A4_uc001rpj.2_Silent_p.V239V|SLC38A4_uc009zkl.2_Silent_p.V239V	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	239	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					CATCACTTACCACACTAACAA	0.378													T	47173394	C	T	47173394	2	4	167	1	0	0	0	0	0	0	0	1	14606	608	21	4		4	SLC38A4	12	47173394	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	7905102	47173394	86678501	129	91998											
AQP2	359	broad.mit.edu	37	chr12	50344953	50344953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgccagcagacatccgcGgggacctggctgtcaatgct	12	14	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:50344953G>A	uc001rvn.2	+	1	430	c.340G>A	c.(340-342)GGG>AGG	p.G114R		NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	114	Extracellular (Potential).				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						AGACATCCGCGGGGACCTGGC	0.627													A	50344953	G	A	50344953	3	1	167	1	0	0	0	0	1	0	0	0	826	1116	39	1	342	1	AQP2	12	50344953	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3171559	50344953	83506942	130	91999											
KRT5	3852	broad.mit.edu	37	chr12	52910460	52910460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttgcggtaagtggcgAtctccacgtccagggccagc	14	13	1	0	rs60271599		TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:52910460A>G	uc001san.2	-	7	1563	c.1400T>C	c.(1399-1401)ATC>ACC	p.I467T	KRT5_uc009zmh.2_Missense_Mutation_p.I467T	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	467	Rod.|Coil 2.		I -> T (in DM-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTAAGTGGCGATCTCCACGTC	0.587													G	52910460	A	G	52910460	3	3	167	1	0	0	0	0	1	0	0	0	8479	333	12	3	384	3	KRT5	12	52910460	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	2565507	52910460	80941435	131	92000											
MYO1H	283446	broad.mit.edu	37	chr12	109826622	109826622	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctttgtcgacaacctccgCaagcgtttcagcgagaacct	9	14	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:109826622C>A	uc010sxn.1	+	1	99	c.99C>A	c.(97-99)CGC>CGA	p.R33R		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						ACAACCTCCGCAAGCGTTTCA	0.527													A	109826622	C	A	109826622	2	1	167	1	0	0	0	0	0	0	0	1	10075	697	25	5		5	MYO1H	12	109826622	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	56916162	109826622	24025273	132	92001											
KNTC1	9735	broad.mit.edu	37	chr12	123019236	123019236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaatccaaagatacaggCatgcagcttaagtgatgggt	10	6	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:123019236C>T	uc001ucv.2	+	3	318	c.155C>T	c.(154-156)GCA>GTA	p.A52V	KNTC1_uc010taf.1_Missense_Mutation_p.A52V	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	52					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		AAGATACAGGCATGCAGCTTA	0.338													T	123019236	C	T	123019236	3	4	167	1	0	0	0	0	1	0	0	0	8428	710	25	2	161	2	KNTC1	12	123019236	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	13192614	123019236	10832659	133	92002											
FZD10	11211	broad.mit.edu	37	chr12	130648113	130648113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcgcgtcgtgcgcgcCgctctgcacgcccggcgtgg	17	15	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr12:130648113C>T	uc001uii.2	+	1	1082	c.626C>T	c.(625-627)CCG>CTG	p.P209L	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	209	Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		TCGTGCGCGCCGCTCTGCACG	0.602													T	130648113	C	T	130648113	3	4	167	1	0	0	0	0	1	0	0	0	6129	652	23	1	628	1	FZD10	12	130648113	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	7628877	130648113	3203782	134	92003											
USPL1	10208	broad.mit.edu	37	chr13	31232148	31232148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtaatgaaaagcttaTtcaagaccaatttgtggaca	7	7	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:31232148T>C	uc001utc.2	+	9	2366	c.1934T>C	c.(1933-1935)ATT>ACT	p.I645T	USPL1_uc001utd.2_Missense_Mutation_p.I316T|USPL1_uc001ute.1_Missense_Mutation_p.I316T	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	645					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAAAAGCTTATTCAAGACCAA	0.348													C	31232148	T	C	31232148	3	2	167	1	0	0	0	0	1	0	0	0	17089	1493	52	3	1964	3	USPL1	13	31232148	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08		31232148	83937730	135	92004											
USPL1	10208	broad.mit.edu	37	chr13	31232181	31232181	+	Frame_Shift_Del	DEL	C	C	-													tgtggacataagttttccatCccaagttgtaaatacaaaca							TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:31232180_31232180TC>T	uc001utc.2	+	8	2398	c.1966_1966TC>T	c.(1966-1968)tccfs	p.S656fs	USPL1_uc001utd.2_Frame_Shift_Del_p.S327fs|USPL1_uc001ute.1_Frame_Shift_Del_p.S327fs	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	656					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGTTTTCCATCCCAAGTTGT	0.343													-	31232181	C	-	31232181	7	5	167	1	0	1	0	1	0	0	0	0	17089	855	30	0	1997	0	USPL1	13	31232181	Frame_Shift_Del	DEL	C	TCGA-CG-4436-01A-01D-1158-08	33	31232181	83937697	136	92005											
NBEA	26960	broad.mit.edu	37	chr13	36006493	36006493	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcaatgcatttggctccacTcatgctgaagcattgctgaa	9	11	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:36006493T>G	uc001uvb.2	+	39	6473	c.6267T>G	c.(6265-6267)ACT>ACG	p.T2089T	NBEA_uc010abi.2_Silent_p.T745T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2089						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TTGGCTCCACTCATGCTGAAG	0.433													G	36006493	T	G	36006493	2	3	167	1	0	0	0	0	0	0	0	1	10187	1538	54	5		5	NBEA	13	36006493	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	4774312	36006493	79163385	137	92006											
ENOX1	55068	broad.mit.edu	37	chr13	43896631	43896631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcactttgagcattccGgagctcctgcaagtagagga	11	11	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:43896631G>A	uc001uza.3	-	11	1450	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	ENOX1_uc001uzb.3_Missense_Mutation_p.R384W|ENOX1_uc001uzc.3_Missense_Mutation_p.R384W|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.R197W	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	384					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		TGAGCATTCCGGAGCTCCTGC	0.448													A	43896631	G	A	43896631	3	1	167	1	0	0	0	0	1	0	0	0	5126	1115	39	1	809	1	ENOX1	13	43896631	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	7890138	43896631	71273247	138	92007											
C13orf31	144811	broad.mit.edu	37	chr13	44455529	44455529	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatttgaagatttgcaagtGacttttaggggagggctttt	13	3	0	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:44455529G>T	uc010acg.2	+	2	893	c.408G>T	c.(406-408)GTG>GTT	p.V136V	CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Silent_p.V136V	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	136											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)		ATTTGCAAGTGACTTTTAGGG	0.328													T	44455529	G	T	44455529	2	4	167	1	0	0	0	0	0	0	0	1	1726	1277	45	5		5	C13orf31	13	44455529	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	558898	44455529	70714349	139	92008											
THSD1	55901	broad.mit.edu	37	chr13	52952648	52952648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcccctggactccccGtgggcccgtctcccccatcc	9	21	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:52952648G>A	uc001vgo.2	-	5	2002	c.1457C>T	c.(1456-1458)ACG>ATG	p.T486M	THSD1_uc001vgp.2_Missense_Mutation_p.T433M|THSD1_uc010tgz.1_Missense_Mutation_p.T107M|THSD1_uc010aea.2_Translation_Start_Site	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	486	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		TGGACTCCCCGTGGGCCCGTC	0.652													A	52952648	G	A	52952648	3	1	167	1	0	0	0	0	1	0	0	0	15874	1145	40	1	1105	1	THSD1	13	52952648	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	8497119	52952648	62217230	140	92009											
PCDH17	27253	broad.mit.edu	37	chr13	58299057	58299057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaggtcccctcagcatcaAgcagcccaaccaaggcgtgc	10	15	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:58299057A>C	uc001vhq.1	+	4	4001	c.3109A>C	c.(3109-3111)AGC>CGC	p.S1037R	PCDH17_uc010aec.1_Missense_Mutation_p.S1036R|PCDH17_uc001vhr.1_Missense_Mutation_p.S126R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1037	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTCAGCATCAAGCAGCCCAAC	0.532													C	58299057	A	C	58299057	3	2	167	1	0	0	0	0	1	0	0	0	11512	72	3	5	3123	5	PCDH17	13	58299057	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	5346409	58299057	56870821	141	92010											
SCEL	8796	broad.mit.edu	37	chr13	78130848	78130848	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgccctgaagaagaaaAgtaagctggtgtggagcgtg	15	6	0	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:78130848A>C	uc001vki.2	+	3	331	c.161A>C	c.(160-162)AAA>ACA	p.K54T	SCEL_uc001vkj.2_Missense_Mutation_p.K54T|SCEL_uc010thx.1_Missense_Mutation_p.K54T	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	54					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAAGAAGAAAAGTAAGCTGGT	0.453													C	78130848	A	C	78130848	3	2	167	1	0	0	0	0	1	0	0	0	13888	86	3	5	167	5	SCEL	13	78130848	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	19831791	78130848	37039030	142	92011											
SLITRK1	114798	broad.mit.edu	37	chr13	84453960	84453960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttctaaagaagttcacCggcgtctcacacttgaggtc	8	12	3	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr13:84453960C>T	uc001vlk.2	-	1	2569	c.1683G>A	c.(1681-1683)CCG>CCA	p.P561P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	561	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGAAGTTCACCGGCGTCTCAC	0.522													T	84453960	C	T	84453960	2	4	167	1	0	0	0	0	0	0	0	1	14742	639	23	1		1	SLITRK1	13	84453960	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	6323112	84453960	30715918	143	92012											
PRKD1	5587	broad.mit.edu	37	chr14	30068245	30068245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacttgcctgaggaaaaggAtcagctgaggctagcaacac	11	9	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr14:30068245A>G	uc001wqh.2	-	15	2335	c.2154T>C	c.(2152-2154)GAT>GAC	p.D718D		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	718	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GAGGAAAAGGATCAGCTGAGG	0.423													G	30068245	A	G	30068245	2	3	167	1	0	0	0	0	0	0	0	1	12518	330	12	3		3	PRKD1	14	30068245	Silent	SNP	A	TCGA-CG-4436-01A-01D-1158-08		30068245	77281295	144	92013											
PPP2R3C	55012	broad.mit.edu	37	chr14	35554856	35554856	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaacaagagcctctctgttCtcgtaagtccagaagccatt	8	12	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr14:35554856C>T	uc001wss.2	-	13	1656	c.1302G>A	c.(1300-1302)GAG>GAA	p.E434E	PPP2R3C_uc001wst.2_Silent_p.E318E|PPP2R3C_uc010tpr.1_Silent_p.E318E|PPP2R3C_uc001wsu.2_RNA	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	serine/threonine-protein phosphatase 2A	434						centrosome|nucleus	calcium ion binding			ovary(1)	1	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)		CCTCTCTGTTCTCGTAAGTCC	0.383													T	35554856	C	T	35554856	2	4	167	1	0	0	0	0	0	0	0	1	12390	912	32	4		4	PPP2R3C	14	35554856	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	5486611	35554856	71794684	145	92014											
LRFN5	145581	broad.mit.edu	37	chr14	42356892	42356892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaggatacaggtgcttTtacctgcattgcttccaatc	8	9	0	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr14:42356892T>G	uc001wvm.2	+	3	2262	c.1064T>G	c.(1063-1065)TTT>TGT	p.F355C	LRFN5_uc010ana.2_Missense_Mutation_p.F355C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	355	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACAGGTGCTTTTACCTGCATT	0.388										HNSCC(30;0.082)			G	42356892	T	G	42356892	3	3	167	1	0	0	0	0	1	0	0	0	8941	1841	64	5	1066	5	LRFN5	14	42356892	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	6802036	42356892	64992648	146	92015											
C14orf106	55320	broad.mit.edu	37	chr14	45716199	45716199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttaatccatccttgttGggctttatagcactgatatc	6	8	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr14:45716199G>A	uc001wwf.2	-	2	750	c.291C>T	c.(289-291)CCC>CCT	p.P97P	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	97					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CATCCTTGTTGGGCTTTATAG	0.313													A	45716199	G	A	45716199	2	1	167	1	0	0	0	0	0	0	0	1	1738	1335	47	4		4	C14orf106	14	45716199	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3359307	45716199	61633341	147	92016											
ABHD12B	145447	broad.mit.edu	37	chr14	51368592	51368592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacgtacacttatggatgccCtgagaaaagacaaaataatc	7	8	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr14:51368592C>G	uc001wys.2	+	10	841	c.826C>G	c.(826-828)CTG>GTG	p.L276V	ABHD12B_uc001wyq.2_Missense_Mutation_p.L169V|ABHD12B_uc001wyr.2_Missense_Mutation_p.L199V|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	276							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TATGGATGCCCTGAGAAAAGA	0.308													G	51368592	C	G	51368592	3	3	167	1	0	0	0	0	1	0	0	0	77	680	24	5	643	5	ABHD12B	14	51368592	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	5652393	51368592	55980948	148	92017											
RHOJ	57381	broad.mit.edu	37	chr14	63735880	63735880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggactgtatgacaccgcGggacaggtacatttttatta	10	9	0	1	rs148425776		TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr14:63735880G>A	uc001xgb.1	+	2	674	c.231G>A	c.(229-231)GCG>GCA	p.A77A		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	77	GTP (By similarity).				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ATGACACCGCGGGACAGGTAC	0.398													A	63735880	G	A	63735880	2	1	167	1	0	0	0	0	0	0	0	1	13341	1103	39	1		1	RHOJ	14	63735880	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	12367288	63735880	43613660	149	92018											
SIPA1L1	26037	broad.mit.edu	37	chr14	72138230	72138230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttagggatctccaatgagTtcattgtgctcattgaacag	9	7	3	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr14:72138230T>C	uc001xms.2	+	8	2998	c.2650T>C	c.(2650-2652)TTC>CTC	p.F884L	SIPA1L1_uc001xmt.2_Missense_Mutation_p.F884L|SIPA1L1_uc001xmu.2_Missense_Mutation_p.F884L|SIPA1L1_uc001xmv.2_Missense_Mutation_p.F884L|SIPA1L1_uc010ttm.1_Missense_Mutation_p.F359L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	884					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAATGAGTTCATTGTGCT	0.488													C	72138230	T	C	72138230	3	2	167	1	0	0	0	0	1	0	0	0	14329	1725	60	3	2676	3	SIPA1L1	14	72138230	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	8402350	72138230	35211310	150	92019											
TJP1	7082	broad.mit.edu	37	chr15	30010566	30010567	+	Missense_Mutation	DNP	CT	CT	GG													ctggtgagtacagactgtggCttcattgctggatcttcctc							TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr15:30010566_30010567CT>GG	uc001zcr.2	-	21	4254_4255	c.3779_3780AG>CC	c.(3778-3780)AAG>ACC	p.K1260T	TJP1_uc010azl.2_Missense_Mutation_p.K1248T|TJP1_uc001zcq.2_Missense_Mutation_p.K1184T|TJP1_uc001zcs.2_Missense_Mutation_p.K1180T	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1260					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		CAGACTGTGGCTTCATTGCTGG	0.441													GG	30010567	CT	GG	30010566	3	3	167	1	0	0	0	0	1	0	0	0	15926	796	28	5	1498	5	TJP1	15	30010566	Missense_Mutation	DNP	CT	TCGA-CG-4436-01A-01D-1158-08		30010566	72520826	151	92020											
RYR3	6263	broad.mit.edu	37	chr15	34134178	34134178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagaaggttgagaagcCggaagctttcacagccaatt	12	8	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr15:34134178C>T	uc001zhi.2	+	91	13221	c.13151C>T	c.(13150-13152)CCG>CTG	p.P4384L	RYR3_uc010bar.2_Missense_Mutation_p.P4379L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4384					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GTTGAGAAGCCGGAAGCTTTC	0.473													T	34134178	C	T	34134178	3	4	167	1	0	0	0	0	1	0	0	0	13770	652	23	1	13513	1	RYR3	15	34134178	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	4123612	34134178	68397214	152	92021											
GPR176	11245	broad.mit.edu	37	chr15	40094423	40094423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacttggcatcagatattTtcctctccagtggatagagg	12	8	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr15:40094423T>C	uc001zkj.1	-	3	1324	c.458A>G	c.(457-459)AAA>AGA	p.K153R	GPR176_uc010uck.1_Missense_Mutation_p.K93R	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	153	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		ATCAGATATTTTCCTCTCCAG	0.448											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	40094423	T	C	40094423	3	2	167	1	0	0	0	0	1	0	0	0	6673	1841	64	3	1093	3	GPR176	15	40094423	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	5960245	40094423	62436969	153	92022											
SEMA6D	80031	broad.mit.edu	37	chr15	48052517	48052517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagattcaaggcaatatccGgtttttagaggacgcccttc	10	10	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr15:48052517G>A	uc010bek.2	+	3	486	c.126G>A	c.(124-126)CCG>CCA	p.P42P	SEMA6D_uc001zvw.2_Silent_p.P42P|SEMA6D_uc001zvx.1_Silent_p.P42P|SEMA6D_uc001zvy.2_Silent_p.P42P|SEMA6D_uc001zvz.2_Silent_p.P42P|SEMA6D_uc001zwa.2_Silent_p.P42P|SEMA6D_uc001zwb.2_Silent_p.P42P|SEMA6D_uc001zwc.2_Silent_p.P42P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	42	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		GGCAATATCCGGTTTTTAGAG	0.413													A	48052517	G	A	48052517	2	1	167	1	0	0	0	0	0	0	0	1	14042	1103	39	1		1	SEMA6D	15	48052517	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	7958094	48052517	54478875	154	92023											
USP8	9101	broad.mit.edu	37	chr15	50791187	50791187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtttaagtttgatgatcatGaagtttctgatatctccgtt	9	5	3	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr15:50791187G>C	uc001zym.3	+	21	3759	c.3259G>C	c.(3259-3261)GAA>CAA	p.E1087Q	USP8_uc001zyl.3_Missense_Mutation_p.E1087Q|USP8_uc001zyn.3_Missense_Mutation_p.E1087Q|USP8_uc010ufh.1_Missense_Mutation_p.E981Q|USP8_uc001zyp.3_Missense_Mutation_p.E254Q	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1087					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			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGATGATCATGAAGTTTCTGA	0.423													C	50791187	G	C	50791187	3	2	167	1	0	0	0	0	1	0	0	0	17086	1291	45	5	3333	5	USP8	15	50791187	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	2738670	50791187	51740205	155	92024											
SGK269	79834	broad.mit.edu	37	chr15	77407493	77407493	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttcagtctcttccatgtcatCctcatccttttcagggtcat	5	13	6	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr15:77407493C>G	uc002bcm.2	-	6	4554	c.4246G>C	c.(4246-4248)GAT>CAT	p.D1416H		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1416	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TCCATGTCATCCTCATCCTTT	0.488													G	77407493	C	G	77407493	3	3	167	1	0	0	0	0	1	0	0	0	14211	855	30	5	998	5	SGK269	15	77407493	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	26616306	77407493	25123899	156	92025											
MEX3B	84206	broad.mit.edu	37	chr15	82336855	82336857	+	In_Frame_Del	DEL	TCC	TCC	-													ccctccgagccatggccacaTcctccttcctgcccgtcaca							TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr15:82336855_82336857delTCC	uc002bgq.1	-	2	669_671	c.354_356delGGA	c.(352-357)GAGGAT>GAT	p.E118del		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	118	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CATGGCCACATCCTCCTTCCTGC	0.576													-	82336857	TCC	-	82336855	7	5	167	1	0	1	0	1	0	0	0	0	9510	1435	50	0	1357	0	MEX3B	15	82336855	In_Frame_Del	DEL	TCC	TCGA-CG-4436-01A-01D-1158-08	4929362	82336855	20194537	157	92026											
RHBDF1	64285	broad.mit.edu	37	chr16	108437	108437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagcggacaggatagaCgtagaagaggaccaccaggc	13	11	1	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr16:108437C>T	uc002cfl.3	-	21	2618	c.2470G>A	c.(2470-2472)GTC>ATC	p.V824I		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	824	Helical; (Potential).				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			ovary(1)|pancreas(1)	2		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)				ACAGGATAGACGTAGAAGAGG	0.557													T	108437	C	T	108437	3	4	167	1	0	0	0	0	1	0	0	0	13319	536	19	1	101	1	RHBDF1	16	108437	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08		108437	90246316	158	92027											
BTBD12	84464	broad.mit.edu	37	chr16	3639115	3639115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaacgtcccacagagcCgaattcagaaagctcggcct	8	15	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr16:3639115C>T	uc002cvp.2	-	12	5151	c.4524G>A	c.(4522-4524)TCG>TCA	p.S1508S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1508	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCCACAGAGCCGAATTCAGAA	0.632								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3639115	C	T	3639115	2	4	167	1	0	0	0	0	0	0	0	1	1540	639	23	1		1	BTBD12	16	3639115	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	3530678	3639115	86715638	159	92028											
DNAH3	55567	broad.mit.edu	37	chr16	21008739	21008739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcctcaggagctcgatgGgtggctgggccccatacacc	13	14	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr16:21008739G>A	uc010vbe.1	-	44	6467	c.6467C>T	c.(6466-6468)CCC>CTC	p.P2156L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2156	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GAGCTCGATGGGTGGCTGGGC	0.522													A	21008739	G	A	21008739	3	1	167	1	0	0	0	0	1	0	0	0	4603	1232	43	4	5958	4	DNAH3	16	21008739	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	17369624	21008739	69346014	160	92029											
SETD1A	9739	broad.mit.edu	37	chr16	30980994	30980994	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggataccacaaagaaggaGacagaggtgtcggatggtga	16	5	0	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr16:30980994G>C	uc002ead.1	+	12	3686	c.3000G>C	c.(2998-3000)GAG>GAC	p.E1000D		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1000	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			ovary(2)|skin(1)	3						CAAAGAAGGAGACAGAGGTGT	0.507													C	30980994	G	C	30980994	3	2	167	1	0	0	0	0	1	0	0	0	14130	933	33	5	3042	5	SETD1A	16	30980994	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	9972255	30980994	59373759	161	92030											
VKORC1	79001	broad.mit.edu	37	chr16	31104640	31104640	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggagccactcacctaacaaTagctgtagtgtgtagaagat	10	9	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr16:31104640T>A	uc002eas.2	-	2	502	c.276A>T	c.(274-276)CTA>CTT	p.L92L	PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Intron|VKORC1_uc002eau.2_Silent_p.L92L	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	92	Cytoplasmic (Potential).				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity				0					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCTAACAATAGCTGTAGTG	0.343													A	31104640	T	A	31104640	2	1	167	1	0	0	0	0	0	0	0	1	17169	1393	49	5		5	VKORC1	16	31104640	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	123646	31104640	59250113	162	92031											
TMEM102	284114	broad.mit.edu	37	chr17	7339728	7339728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaatcctgttacgcacagGtctgcctcccagagatggtg	12	11	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:7339728G>T	uc002ggx.1	+	3	703	c.430G>T	c.(430-432)GTC>TTC	p.V144F	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.V144F	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	144	Extracellular (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				TTACGCACAGGTCTGCCTCCC	0.592													T	7339728	G	T	7339728	3	4	167	1	0	0	0	0	1	0	0	0	16014	1261	44	5	436	5	TMEM102	17	7339728	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08		7339728	73855482	163	92032											
SHBG	6462	broad.mit.edu	37	chr17	7535245	7535245	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggccttctctttggacctggGactcaagcaggcagcaggct	13	12	2	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:7535245G>C	uc002gie.2	+	6	802	c.764G>C	c.(763-765)GGA>GCA	p.G255A	SHBG_uc010cmo.2_Missense_Mutation_p.G143A|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Missense_Mutation_p.G143A|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.G197A|SHBG_uc010cmu.2_Missense_Mutation_p.G197A|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Missense_Mutation_p.G143A|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.G197A|SHBG_uc002gid.3_Missense_Mutation_p.G197A|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.G237A|SHBG_uc010vuf.1_Missense_Mutation_p.G255A|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Missense_Mutation_p.G201A	NM_001040	NP_001031	P04278	SHBG_HUMAN	sex hormone-binding globulin isoform 1	255	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)			0		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)	TTGGACCTGGGACTCAAGCAG	0.572													C	7535245	G	C	7535245	3	2	167	1	0	0	0	0	1	0	0	0	14269	1174	41	5	786	5	SHBG	17	7535245	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	195517	7535245	73659965	164	92033											
TP53	7157	broad.mit.edu	37	chr17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtttcttctttggctGgggagaggagctggtgttgt	17	5	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:7576897G>A	uc002gim.2	-	9	1143	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q317*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q185*|TP53_uc010cng.1_Nonsense_Mutation_p.Q185*|TP53_uc002gii.1_Nonsense_Mutation_p.Q185*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q317*|TP53_uc010cni.1_Nonsense_Mutation_p.Q317*|TP53_uc002gij.2_Nonsense_Mutation_p.Q317*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	317	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(19)|p.0?(7)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(1)|p.Q317fs*19(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TTCTTTGGCTGGGGAGAGGAG	0.473		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7576897	G	A	7576897	4	1	167	1	0	0	0	0	0	1	0	0	16378	1357	47	4	333	4	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	41652	7576897	73618313	165	92034											
C17orf63	55731	broad.mit.edu	37	chr17	27085478	27085478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgccactggaccgcccCcggtccctgctcggtagtgg	14	16	0	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:27085478C>A	uc002hct.1	-	3	1766	c.1499G>T	c.(1498-1500)GGG>GTG	p.G500V	C17orf63_uc010wax.1_Missense_Mutation_p.G500V|C17orf63_uc010way.1_Missense_Mutation_p.G500V|C17orf63_uc002hcw.2_Missense_Mutation_p.G372V	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	500										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			TGGACCGCCCCCGGTCCCTGC	0.637													A	27085478	C	A	27085478	3	1	167	1	0	0	0	0	1	0	0	0	1871	623	22	5		5	C17orf63	17	27085478	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	19508581	27085478	54109732	166	92035											
CCL8	6355	broad.mit.edu	37	chr17	32646540	32646540	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggtttctgcagcgcTtctgtgcctgctgctcatgg	13	10	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:32646540T>G	uc002hib.2	+	1	475	c.20T>G	c.(19-21)CTT>CGT	p.L7R		NM_005623	NP_005614	P80075	CCL8_HUMAN	small inducible cytokine A8 precursor	7					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				TCTGCAGCGCTTCTGTGCCTG	0.532													G	32646540	T	G	32646540	3	3	167	1	0	0	0	0	1	0	0	0	2907	1609	56	5	22	5	CCL8	17	32646540	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	5561062	32646540	48548670	167	92036											
CWC25	54883	broad.mit.edu	37	chr17	36963083	36963083	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctgtcccgggacccTgcttccctggtgctcttctt	9	17	2	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:36963083T>A	uc002hqu.2	-	7	990	c.837A>T	c.(835-837)GCA>GCT	p.A279A	CWC25_uc010wdv.1_Silent_p.A216A|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	279											0						CCCGGGACCCTGCTTCCCTGG	0.567													A	36963083	T	A	36963083	2	1	167	1	0	0	0	0	0	0	0	1	4069	1567	55	5		5	CWC25	17	36963083	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	4316543	36963083	44232127	168	92037											
KIF2B	84643	broad.mit.edu	37	chr17	51901928	51901928	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcctttataggccagaacTcctccacttgcatgattgct	6	13	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:51901928T>A	uc002iua.2	+	1	1690	c.1534T>A	c.(1534-1536)TCC>ACC	p.S512T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	512					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			ovary(5)|skin(3)	8						AGGCCAGAACTCCTCCACTTG	0.448													A	51901928	T	A	51901928	3	1	167	1	0	0	0	0	1	0	0	0	8298	1551	54	5	1536	5	KIF2B	17	51901928	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	14938845	51901928	29293282	169	92038											
TEX14	56155	broad.mit.edu	37	chr17	56699054	56699054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgggctgtagacaagccGctgcggggagtctatcttct	15	10	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:56699054G>A	uc010dcz.1	-	5	629	c.511C>T	c.(511-513)CGG>TGG	p.R171W	TEX14_uc002iwr.1_Missense_Mutation_p.R171W|TEX14_uc002iws.1_Missense_Mutation_p.R171W|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	171						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGACAAGCCGCTGCGGGGAG	0.587													A	56699054	G	A	56699054	3	1	167	1	0	0	0	0	1	0	0	0	15775	1086	38	1	4080	1	TEX14	17	56699054	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	4797126	56699054	24496156	170	92039											
CACNG1	786	broad.mit.edu	37	chr17	65040761	65040761	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctgcccagggcacccaCgcctcggcgaccaccatgtc	10	20	0	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:65040761C>T	uc002jfu.2	+	1	56	c.-15C>T	c.(-17--13)CACGC>CATGC			NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1						muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	AGGGCACCCACGCCTCGGCGA	0.647													T	65040761	C	T	65040761	1	4	167	1	0	0	0	0	0	0	0	0	2556	551	19	1		1	CACNG1	17	65040761	Translation_Start_Site	SNP	C	TCGA-CG-4436-01A-01D-1158-08	8341707	65040761	16154449	171	92040											
DNAH17	8632	broad.mit.edu	37	chr17	76437168	76437168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaggggtcaacccccGgggagaggatgaagaagatt	14	8	2	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr17:76437168G>A	uc010dhp.1	-	17	2864	c.2642C>T	c.(2641-2643)CCG>CTG	p.P881L	DNAH17_uc002jvq.2_Missense_Mutation_p.P166L|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCAACCCCCGGGGAGAGGAT	0.473													A	76437168	G	A	76437168	3	1	167	1	0	0	0	0	1	0	0	0	4601	1116	39	1	1786	1	DNAH17	17	76437168	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	11396407	76437168	4758042	172	92041											
C18orf34	374864	broad.mit.edu	37	chr18	30672872	30672872	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgaatcagctattatTttctagaaggtaaaaaaata	6	4	3	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr18:30672872T>A	uc002kxn.2	-	20	2383	c.2241A>T	c.(2239-2241)AAA>AAT	p.K747N	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Missense_Mutation_p.K747N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K709N|C18orf34_uc002kxp.2_Missense_Mutation_p.K747N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	747										ovary(1)	1						CAGCTATTATTTTCTAGAAGG	0.234													A	30672872	T	A	30672872	3	1	167	1	0	0	0	0	1	0	0	0	1902	1838	64	5	374	5	C18orf34	18	30672872	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08		30672872	47404376	173	92042											
C18orf34	374864	broad.mit.edu	37	chr18	30846889	30846889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaatttacctttcattgGtttttactgttattttgtta	5	5	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr18:30846889G>T	uc002kxn.2	-	13	1542	c.1400C>A	c.(1399-1401)ACC>AAC	p.T467N	C18orf34_uc010dme.1_5'UTR|C18orf34_uc010xbr.1_Missense_Mutation_p.T467N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.T467N|C18orf34_uc002kxp.2_Missense_Mutation_p.T467N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	467	Potential.									ovary(1)	1						CCTTTCATTGGTTTTTACTGT	0.294													T	30846889	G	T	30846889	3	4	167	1	0	0	0	0	1	0	0	0	1902	1261	44	5	1243	5	C18orf34	18	30846889	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	174017	30846889	47230359	174	92043											
PTPRS	5802	broad.mit.edu	37	chr19	5265160	5265160	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgctccaccaccttcaActgtgggcccatgtcgatgt	9	15	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:5265160A>G	uc002mbv.2	-	5	661	c.427T>C	c.(427-429)TTG>CTG	p.L143L	PTPRS_uc002mbu.1_Silent_p.L143L|PTPRS_uc010xin.1_Silent_p.L143L|PTPRS_uc002mbw.2_Silent_p.L143L|PTPRS_uc002mbx.2_Silent_p.L143L|PTPRS_uc002mby.2_Silent_p.L143L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	143	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ACCACCTTCAACTGTGGGCCC	0.602													G	5265160	A	G	5265160	2	3	167	1	0	0	0	0	0	0	0	1	12811	40	2	3		3	PTPRS	19	5265160	Silent	SNP	A	TCGA-CG-4436-01A-01D-1158-08		5265160	53863823	175	92044											
ZNRF4	148066	broad.mit.edu	37	chr19	5456567	5456567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgtgcaaacagtcggtGgccgccacagaagacagctt	12	13	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:5456567G>A	uc002mca.3	+	1	1142	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	355	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AACAGTCGGTGGCCGCCACAG	0.637													A	5456567	G	A	5456567	2	1	167	1	0	0	0	0	0	0	0	1	18211	1335	47	4		4	ZNRF4	19	5456567	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	191407	5456567	53672416	176	92045											
STXBP2	6813	broad.mit.edu	37	chr19	7707378	7707378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggacgaggacgatgaCttgtgggtggagcttcgcca	16	8	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:7707378C>A	uc002mha.3	+	10	903	c.858C>A	c.(856-858)GAC>GAA	p.D286E	STXBP2_uc002mhb.3_Missense_Mutation_p.D283E|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.D297E|STXBP2_uc010dvk.2_Missense_Mutation_p.D254E|STXBP2_uc002mhc.3_Missense_Mutation_p.D54E|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	286					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			central_nervous_system(1)	1						AGGACGATGACTTGTGGGTGG	0.667													A	7707378	C	A	7707378	3	1	167	1	0	0	0	0	1	0	0	0	15352	564	20	5	896	5	STXBP2	19	7707378	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	2250811	7707378	51421605	177	92046											
SLC1A6	6511	broad.mit.edu	37	chr19	15072963	15072963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgttgatgccattggcGgagccaggcacgggtacagt	17	9	0	1	rs115350519	byFrequency	TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:15072963G>A	uc002naa.1	-	5	794	c.786C>T	c.(784-786)TCC>TCT	p.S262S	SLC1A6_uc010dzu.1_Silent_p.S262S|SLC1A6_uc010xod.1_Silent_p.S198S|SLC1A6_uc002nab.2_Silent_p.S262S|SLC1A6_uc002nac.2_Silent_p.S262S	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	262	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	TGCCATTGGCGGAGCCAGGCA	0.582													A	15072963	G	A	15072963	2	1	167	1	0	0	0	0	0	0	0	1	14436	1103	39	1		1	SLC1A6	19	15072963	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	7365585	15072963	44056020	178	92047											
OR10H2	26538	broad.mit.edu	37	chr19	15839756	15839756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaagaactgaaggttgcCatgaagaggaccttcctcag	10	9	1	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:15839756C>T	uc002nbm.2	+	1	923	c.903C>T	c.(901-903)GCC>GCT	p.A301A		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TGAAGGTTGCCATGAAGAGGA	0.517													T	15839756	C	T	15839756	2	4	167	1	0	0	0	0	0	0	0	1	10906	581	21	4		4	OR10H2	19	15839756	Silent	SNP	C	TCGA-CG-4436-01A-01D-1158-08	766793	15839756	43289227	179	92048											
ZNF493	284443	broad.mit.edu	37	chr19	21607715	21607715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtggcaaagcttttaggCggtcttcacatcttagtaga	10	8	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:21607715C>T	uc002npx.2	+	2	2150	c.1870C>T	c.(1870-1872)CGG>TGG	p.R624W	ZNF493_uc002npw.2_Missense_Mutation_p.R752W|ZNF493_uc002npy.2_Missense_Mutation_p.R624W	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	624	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGCTTTTAGGCGGTCTTCACA	0.373													T	21607715	C	T	21607715	3	4	167	1	0	0	0	0	1	0	0	0	17941	759	27	1	2331	1	ZNF493	19	21607715	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	5767959	21607715	37521268	180	92049											
STRN4	29888	broad.mit.edu	37	chr19	47234126	47234126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccatctttgcctgccgCgttcctgccaaagacagcag	9	14	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:47234126C>T	uc002pfl.2	-	6	775	c.742G>A	c.(742-744)GCG>ACG	p.A248T	STRN4_uc002pfm.2_Missense_Mutation_p.A248T|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	248						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		TTGCCTGCCGCGTTCCTGCCA	0.612													T	47234126	C	T	47234126	3	4	167	1	0	0	0	0	1	0	0	0	15330	768	27	1	1588	1	STRN4	19	47234126	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	25626411	47234126	11894857	181	92050											
SYT3	84258	broad.mit.edu	37	chr19	51132647	51132647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctggccgatgaggtcGtgccgcgagaagcggtcaaa	14	12	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:51132647G>A	uc002pst.2	-	4	1819	c.1185C>T	c.(1183-1185)CAC>CAT	p.H395H	SYT3_uc002psv.2_Silent_p.H395H|SYT3_uc010ycd.1_Silent_p.H395H	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	395	C2 1.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CGATGAGGTCGTGCCGCGAGA	0.637													A	51132647	G	A	51132647	2	1	167	1	0	0	0	0	0	0	0	1	15472	1136	40	1		1	SYT3	19	51132647	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3898521	51132647	7996336	182	92051											
CLEC11A	6320	broad.mit.edu	37	chr19	51228685	51228685	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtgggaccacgactgCcagcggcgtctctactacgt	12	14	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:51228685C>A	uc002psy.2	+	4	1111	c.933C>A	c.(931-933)TGC>TGA	p.C311*		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	311	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACCACGACTGCCAGCGGCGTC	0.711													A	51228685	C	A	51228685	4	1	167	1	0	0	0	0	0	1	0	0	3496	747	26	5	947	5	CLEC11A	19	51228685	Nonsense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	96038	51228685	7900298	183	92052											
ZIM2	23619	broad.mit.edu	37	chr19	57286430	57286430	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctgactgtgaattcTtacacgttcacagagattcg	8	11	2	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:57286430T>G	uc002qnr.2	-	11	1592	c.1210A>C	c.(1210-1212)AGA>CGA	p.R404R	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.R200R|ZIM2_uc010ygr.1_Silent_p.R200R|ZIM2_uc002qnq.2_Silent_p.R404R|ZIM2_uc010etp.2_Silent_p.R404R|ZIM2_uc010ygs.1_Silent_p.R404R	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGTGAATTCTTACACGTTCA	0.468													G	57286430	T	G	57286430	2	3	167	1	0	0	0	0	0	0	0	1	17681	1617	56	5		5	ZIM2	19	57286430	Silent	SNP	T	TCGA-CG-4436-01A-01D-1158-08	6057745	57286430	1842553	184	92053											
VN1R1	57191	broad.mit.edu	37	chr19	57967836	57967836	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagtggagacagaagttTtaatgtgtctccaaccatat	8	8	2	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:57967836T>G	uc002qos.1	-	1	19	c.19A>C	c.(19-21)AAA>CAA	p.K7Q	ZNF547_uc002qpm.3_Intron	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	7	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			ovary(1)	1		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)		GACAGAAGTTTTAATGTGTCT	0.373													G	57967836	T	G	57967836	3	3	167	1	0	0	0	0	1	0	0	0	17175	1850	64	5	1046	5	VN1R1	19	57967836	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08	681406	57967836	1161147	185	92054											
ZSCAN4	201516	broad.mit.edu	37	chr19	58190001	58190001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggccatttgtttgtcccGagtgtcaaaaaggcttcttc	10	9	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:58190001G>A	uc002qpu.2	+	5	1727	c.1030G>A	c.(1030-1032)GAG>AAG	p.E344K		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	344	C2H2-type 2.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		TGTTTGTCCCGAGTGTCAAAA	0.423													A	58190001	G	A	58190001	3	1	167	1	0	0	0	0	1	0	0	0	18234	1059	37	1	1040	1	ZSCAN4	19	58190001	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	222165	58190001	938982	186	92055											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601321	58601321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaccacccagggccggAccttatcaggcaggatgccc	12	16	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr19:58601321A>C	uc002qri.2	-	2	623	c.314T>G	c.(313-315)GTC>GGC	p.V105G	ZSCAN18_uc002qrj.3_Missense_Mutation_p.V105G|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.V105G|ZSCAN18_uc010yht.1_Missense_Mutation_p.V161G|ZSCAN18_uc002qrk.1_Missense_Mutation_p.V105G|ZSCAN18_uc002qrl.2_Missense_Mutation_p.V105G	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	105	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		CCAGGGCCGGACCTTATCAGG	0.647													C	58601321	A	C	58601321	3	2	167	1	0	0	0	0	1	0	0	0	18227	275	10	5	1242	5	ZSCAN18	19	58601321	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	411320	58601321	527662	187	92056											
EIF6	3692	broad.mit.edu	37	chr20	33868600	33868600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagctcctggtcggtggTattgttgggtaccaggagac	15	8	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr20:33868600T>C	uc002xbv.1	-	3	442	c.226A>G	c.(226-228)ACC>GCC	p.T76A	EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Missense_Mutation_p.T76A|EIF6_uc002xbz.1_Intron|EIF6_uc002xby.1_Intron	NM_181468	NP_852133	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	76					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGTCGGTGGTATTGTTGGGT	0.567													C	33868600	T	C	33868600	3	2	167	1	0	0	0	0	1	0	0	0	5045	1638	57	3	527	3	EIF6	20	33868600	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08		33868600	29156920	188	92057											
UQCC	55245	broad.mit.edu	37	chr20	33935043	33935043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacatgtacttcccactcCggccttcctgcttcattcgg	7	16	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr20:33935043C>T	uc002xcd.2	-	7	564	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	UQCC_uc010zuy.1_Missense_Mutation_p.R67Q|UQCC_uc010zuz.1_Missense_Mutation_p.R11Q|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.R139Q|UQCC_uc002xcg.2_Missense_Mutation_p.R32Q|UQCC_uc010gfb.2_Missense_Mutation_p.R166Q|UQCC_uc010zvb.1_Missense_Mutation_p.R98Q|UQCC_uc002xcf.2_Missense_Mutation_p.R54Q|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.R120Q|UQCC_uc010gfd.1_Missense_Mutation_p.R152Q	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	166						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTTCCCACTCCGGCCTTCCTG	0.473													T	33935043	C	T	33935043	3	4	167	1	0	0	0	0	1	0	0	0	17012	652	23	1	418	1	UQCC	20	33935043	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	66443	33935043	29090477	189	92058											
PTPRT	11122	broad.mit.edu	37	chr20	40790013	40790013	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtattcctccttgaacccGtagccctggcctctcttcat	6	16	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr20:40790013G>T	uc002xkg.2	-	17	2845	c.2661C>A	c.(2659-2661)TAC>TAA	p.Y887*	PTPRT_uc010ggj.2_Nonsense_Mutation_p.Y906*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.Y90*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	887	Cytoplasmic (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTTGAACCCGTAGCCCTGGC	0.512													T	40790013	G	T	40790013	4	4	167	1	0	0	0	0	0	1	0	0	12812	1140	40	5	1724	5	PTPRT	20	40790013	Nonsense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	6854970	40790013	22235507	190	92059											
ZSWIM3	140831	broad.mit.edu	37	chr20	44486607	44486607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccatggcacctccatccGcgaagacatcctgtaagggc	9	15	0	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr20:44486607G>A	uc002xqd.2	+	1	346	c.143G>A	c.(142-144)CGC>CAC	p.R48H	ACOT8_uc002xqa.1_5'Flank|ACOT8_uc010zxe.1_5'Flank|ACOT8_uc002xqc.1_5'Flank|ACOT8_uc010zxf.1_5'Flank|ZSWIM3_uc010zxg.1_5'UTR	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	48							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				ACCTCCATCCGCGAAGACATC	0.532													A	44486607	G	A	44486607	3	1	167	1	0	0	0	0	1	0	0	0	18239	1087	38	1	145	1	ZSWIM3	20	44486607	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3696594	44486607	18538913	191	92060											
SYCP2	10388	broad.mit.edu	37	chr20	58450395	58450395	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taagtcaaggcaattatctcGtatagcatcttttagtagag	8	6	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr20:58450395G>C	uc002yaz.2	-	33	3419	c.3280C>G	c.(3280-3282)CGA>GGA	p.R1094G		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1094					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAATTATCTCGTATAGCATCT	0.348													C	58450395	G	C	58450395	3	2	167	1	0	0	0	0	1	0	0	0	15429	1153	40	5	1360	5	SYCP2	20	58450395	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	13963788	58450395	4575125	192	92061											
OSBPL2	9885	broad.mit.edu	37	chr20	60847217	60847217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgccaatcgccttcaacGagcctctgagcttcttgcag	9	14	3	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr20:60847217G>A	uc002yck.1	+	5	497	c.295G>A	c.(295-297)GAG>AAG	p.E99K	OSBPL2_uc002ycl.1_Missense_Mutation_p.E87K|OSBPL2_uc011aah.1_Missense_Mutation_p.E7K	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	99					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CGCCTTCAACGAGCCTCTGAG	0.602													A	60847217	G	A	60847217	3	1	167	1	0	0	0	0	1	0	0	0	11278	1059	37	1	309	1	OSBPL2	20	60847217	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	2396822	60847217	2178303	193	92062											
CCT8	10694	broad.mit.edu	37	chr21	30433674	30433674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagttttctgccagtgcgCggggaatagcttcaaatgcc	12	10	2	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr21:30433674C>T	uc002ynb.2	-	13	1448	c.1349G>A	c.(1348-1350)CGC>CAC	p.R450H	CCT8_uc002ymz.2_Missense_Mutation_p.R66H|CCT8_uc011acp.1_Missense_Mutation_p.R431H|CCT8_uc002yna.2_Missense_Mutation_p.R399H|CCT8_uc002ync.2_Missense_Mutation_p.R449H|CCT8_uc010glm.2_Missense_Mutation_p.R391H|CCT8_uc011acq.1_Missense_Mutation_p.R377H	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	450					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TGCCAGTGCGCGGGGAATAGC	0.368													T	30433674	C	T	30433674	3	4	167	1	0	0	0	0	1	0	0	0	2960	768	27	1	309	1	CCT8	21	30433674	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08		30433674	17696221	194	92063											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951855	30951855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggctgcgggcgaagaaGgtcgggtagtcgaagtcatt	16	8	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr22:30951855G>A	uc003aig.1	-	4	497	c.357C>T	c.(355-357)ACC>ACT	p.T119T	GAL3ST1_uc003aih.1_Silent_p.T119T|GAL3ST1_uc003aii.1_Silent_p.T119T|GAL3ST1_uc010gvz.1_Silent_p.T119T	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	119	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GGGCGAAGAAGGTCGGGTAGT	0.632													A	30951855	G	A	30951855	2	1	167	1	0	0	0	0	0	0	0	1	6197	987	35	4		4	GAL3ST1	22	30951855	Silent	SNP	G	TCGA-CG-4436-01A-01D-1158-08		30951855	20352711	195	92064											
CYTH4	27128	broad.mit.edu	37	chr22	37688719	37688719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagaggatcaagtggcaccGaaagcagctcctggaggaca	13	10	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr22:37688719G>A	uc003arf.2	+	2	193	c.77G>A	c.(76-78)CGA>CAA	p.R26Q	CYTH4_uc003ard.3_Missense_Mutation_p.R26Q|CYTH4_uc003are.2_Missense_Mutation_p.R26Q|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	26	Potential.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						AAGTGGCACCGAAAGCAGCTC	0.612													A	37688719	G	A	37688719	3	1	167	1	0	0	0	0	1	0	0	0	4206	1058	37	1	83	1	CYTH4	22	37688719	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	6736864	37688719	13615847	196	92065											
SLC16A8	23539	broad.mit.edu	37	chr22	38474460	38474460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgggctcgccccgggCgctgagcacctccagggcct	14	16	1	1			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr22:38474460C>T	uc003auu.2	-	5	1580	c.1450G>A	c.(1450-1452)GCC>ACC	p.A484T		NM_013356	NP_037488	O95907	MOT3_HUMAN	solute carrier family 16, member 8	484	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity				0	Melanoma(58;0.045)				Pyruvic acid(DB00119)	TCGCCCCGGGCGCTGAGCACC	0.642													T	38474460	C	T	38474460	3	4	167	1	0	0	0	0	1	0	0	0	14414	768	27	1	68	1	SLC16A8	22	38474460	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	785741	38474460	12830106	197	92066											
SREBF2	6721	broad.mit.edu	37	chr22	42276858	42276858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagaagctacgcctgGtgcgctggctgctcaagaaa	13	12	1	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr22:42276858G>A	uc003bbi.2	+	10	2069	c.1900G>A	c.(1900-1902)GTG>ATG	p.V634M	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	634	Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						GCTACGCCTGGTGCGCTGGCT	0.662													A	42276858	G	A	42276858	3	1	167	1	0	0	0	0	1	0	0	0	15141	1261	44	4	1938	4	SREBF2	22	42276858	Missense_Mutation	SNP	G	TCGA-CG-4436-01A-01D-1158-08	3802398	42276858	9027708	198	92067											
KIAA1644	85352	broad.mit.edu	37	chr22	44681488	44681488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggggtcctgtttcatccatCgtccttggatgccccaccgt	11	14	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr22:44681488C>T	uc003bet.2	-	4	552	c.419G>A	c.(418-420)CGA>CAA	p.R140Q		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	140	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TTTCATCCATCGTCCTTGGAT	0.637													T	44681488	C	T	44681488	3	4	167	1	0	0	0	0	1	0	0	0	8250	884	31	1	188	1	KIAA1644	22	44681488	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	2404630	44681488	6623078	199	92068											
NUP50	10762	broad.mit.edu	37	chr22	45564068	45564068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgaaaacatggccaaaAgaaatgccgagaaggaactg	12	7	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chr22:45564068A>G	uc003bfr.2	+	2	472	c.10A>G	c.(10-12)AGA>GGA	p.R4G	NUP50_uc003bfs.2_5'UTR|NUP50_uc011aqn.1_5'UTR|NUP50_uc003bft.2_5'UTR	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	4					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				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CATGGCCAAAAGAAATGCCGA	0.328													G	45564068	A	G	45564068	3	3	167	1	0	0	0	0	1	0	0	0	10766	64	3	3	12	3	NUP50	22	45564068	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	882580	45564068	5740498	200	92069											
KAL1	3730	broad.mit.edu	37	chrX	8555953	8555953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgaatttcgaggaccacTtaacctccagctgtccagac	7	12	0	2			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chrX:8555953T>G	uc004csf.2	-	5	758	c.608A>C	c.(607-609)AAG>ACG	p.K203T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	203	Fibronectin type-III 1.				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			ovary(3)|pancreas(1)	4						CGAGGACCACTTAACCTCCAG	0.438													G	8555953	T	G	8555953	3	3	167	1	0	0	0	0	1	0	0	0	7974	1609	56	5	1474	5	KAL1	23	8555953	Missense_Mutation	SNP	T	TCGA-CG-4436-01A-01D-1158-08		8555953	146714607	201	92070											
DMD	1756	broad.mit.edu	37	chrX	32381009	32381009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccgcggtttgccatcaAgtttgctgcttggtcacgtg	12	11	3	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chrX:32381009A>C	uc004dda.1	-	37	5465	c.5221T>G	c.(5221-5223)TTG>GTG	p.L1741V	DMD_uc004dcw.2_Missense_Mutation_p.L397V|DMD_uc004dcx.2_Missense_Mutation_p.L400V|DMD_uc004dcz.2_Missense_Mutation_p.L1618V|DMD_uc004dcy.1_Missense_Mutation_p.L1737V|DMD_uc004ddb.1_Missense_Mutation_p.L1733V|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1741	Spectrin 12.|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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TTTGCCATCAAGTTTGCTGCT	0.463													C	32381009	A	C	32381009	3	2	167	1	0	0	0	0	1	0	0	0	4580	69	3	5	6156	5	DMD	23	32381009	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	23825056	32381009	122889551	202	92071											
DMD	1756	broad.mit.edu	37	chrX	32430012	32430012	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgctctgttcaagcaActtttgcctccttacagcct	7	13	2	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chrX:32430012A>C	uc004dda.1	-	30	4334	c.4090T>G	c.(4090-4092)TTG>GTG	p.L1364V	DMD_uc004dcw.2_Missense_Mutation_p.L20V|DMD_uc004dcx.2_Missense_Mutation_p.L23V|DMD_uc004dcz.2_Missense_Mutation_p.L1241V|DMD_uc004dcy.1_Missense_Mutation_p.L1360V|DMD_uc004ddb.1_Missense_Mutation_p.L1356V|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1364	Spectrin 9.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TGTTCAAGCAACTTTTGCCTC	0.393													C	32430012	A	C	32430012	3	2	167	1	0	0	0	0	1	0	0	0	4580	40	2	5	7315	5	DMD	23	32430012	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	49003	32430012	122840548	203	92072											
CXorf59	286464	broad.mit.edu	37	chrX	36122739	36122739	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatattctgattctgaaagaAttttgcttagttggatgaac	8	4	2	4			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chrX:36122739A>T	uc004ddk.1	+	8	1162	c.976A>T	c.(976-978)ATT>TTT	p.I326F		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	326						integral to membrane				central_nervous_system(1)	1						TTCTGAAAGAATTTTGCTTAG	0.338													T	36122739	A	T	36122739	3	4	167	1	0	0	0	0	1	0	0	0	4115	101	4	5	1002	5	CXorf59	23	36122739	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	3692727	36122739	119147821	204	92073											
USP11	8237	broad.mit.edu	37	chrX	47104245	47104245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcccccaaggcgacgaCgcaagcagctgttcaccctg	12	15	1	0			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chrX:47104245C>T	uc004dhp.2	+	15	2137	c.2137C>T	c.(2137-2139)CGC>TGC	p.R713C	USP11_uc004dhq.2_Missense_Mutation_p.R439C	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	713					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						AAGGCGACGACGCAAGCAGCT	0.597													T	47104245	C	T	47104245	3	4	167	1	0	0	0	0	1	0	0	0	17039	536	19	1	2195	1	USP11	23	47104245	Missense_Mutation	SNP	C	TCGA-CG-4436-01A-01D-1158-08	10981506	47104245	108166315	205	92074											
MAGEH1	28986	broad.mit.edu	37	chrX	55479467	55479467	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggttattccgccccttaAgtagatctgaggcagaccct	11	11	1	3			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chrX:55479467A>C	uc004dum.2	+	1	930	c.660A>C	c.(658-660)TAA>TAC	p.*220Y		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	220					apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CCGCCCCTTAAGTAGATCTGA	0.502													C	55479467	A	C	55479467	4	2	167	1	0	0	0	0	0	0	0	0	9188	79	3	5	662	5	MAGEH1	23	55479467	Nonstop_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	8375222	55479467	99791093	206	92075											
CYLC1	1538	broad.mit.edu	37	chrX	83128879	83128879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattcaagaaatttgaAgaaagcttcaaagaatgatg	8	3	2	6			TCGA-CG-4436-01A-01D-1158-08	TCGA-CG-4436-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdc1981a-f12f-47b8-a23a-439aaac8c9ce	27c8e775-c1fc-4bfa-b1e4-f0b353eff25b	g.chrX:83128879A>C	uc004eei.1	+	4	1184	c.1163A>C	c.(1162-1164)AAG>ACG	p.K388T	CYLC1_uc004eeh.1_Missense_Mutation_p.K387T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	388	4.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						AGAAATTTGAAGAAAGCTTCA	0.303													C	83128879	A	C	83128879	3	2	167	1	0	0	0	0	1	0	0	0	4141	72	3	5	1177	5	CYLC1	23	83128879	Missense_Mutation	SNP	A	TCGA-CG-4436-01A-01D-1158-08	27649412	83128879	72141681	207	92076											
NPHP4	261734	broad.mit.edu	37	chr1	5965732	5965732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaataggggcatgcaaagGcgtgaacggcagctcctgta	13	9	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:5965732G>A	uc001alq.1	-	14	1989	c.1723C>T	c.(1723-1725)CCT>TCT	p.P575S	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	575					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		GCATGCAAAGGCGTGAACGGC	0.592													A	5965732	G	A	5965732	3	1	168	1	0	0	0	0	1	0	0	0	10581	1203	42	2	2625	2	NPHP4	1	5965732	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08		5965732	243284889	1	92077											
KIF1B	23095	broad.mit.edu	37	chr1	10321979	10321979	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagttatgtgaagaactttTtgagaaaatcaatgacaact	7	5	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:10321979T>G	uc001aqx.3	+	5	582	c.380T>G	c.(379-381)TTT>TGT	p.F127C	KIF1B_uc001aqv.3_Missense_Mutation_p.F127C|KIF1B_uc001aqw.3_Missense_Mutation_p.F127C|KIF1B_uc001aqy.2_Missense_Mutation_p.F127C|KIF1B_uc001aqz.2_Missense_Mutation_p.F127C|KIF1B_uc001ara.2_Missense_Mutation_p.F127C|KIF1B_uc001arb.2_Missense_Mutation_p.F127C|KIF1B_uc009vmt.2_RNA	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	127	Kinesin-motor.				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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		GAAGAACTTTTTGAGAAAATC	0.418													G	10321979	T	G	10321979	3	3	168	1	0	0	0	0	1	0	0	0	8284	1841	64	5	394	5	KIF1B	1	10321979	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	4356247	10321979	238928642	2	92078											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855915	12855915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccctgaaggacctgctgCgccacaccagtgggctgagc	13	15	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:12855915C>T	uc001auj.1	+	4	1298	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	399											0	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)		GGACCTGCTGCGCCACACCAG	0.557													T	12855915	C	T	12855915	3	4	168	1	0	0	0	0	1	0	0	0	12425	768	27	1	1205	1	PRAMEF1	1	12855915	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2533936	12855915	236394706	3	92079											
CELA2A	63036	broad.mit.edu	37	chr1	15793956	15793956	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acggcatcgtcagcttcgggTctcgcctcggctgcaactac	11	15	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:15793956T>G	uc001awk.2	+	7	741	c.715T>G	c.(715-717)TCT>GCT	p.S239A		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	239	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						CAGCTTCGGGTCTCGCCTCGG	0.602													G	15793956	T	G	15793956	3	3	168	1	0	0	0	0	1	0	0	0	3211	1667	58	5	741	5	CELA2A	1	15793956	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2938041	15793956	233456665	4	92080											
PAX7	5081	broad.mit.edu	37	chr1	19062421	19062421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccccattccttctcccaCccccagggcctcctgcttgt	6	21	1	0	rs142059630		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:19062421C>A	uc001bay.2	+	8	2049	c.1451C>A	c.(1450-1452)ACC>AAC	p.T484N	PAX7_uc001baz.2_Missense_Mutation_p.T482N|PAX7_uc010oct.1_Intron	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	484					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		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)		CCTTCTCCCACCCCCAGGGCC	0.433			T	FOXO1A	alveolar rhabdomyosarcoma								A	19062421	C	A	19062421	3	1	168	1	0	0	0	0	1	0	0	0	11484	507	18	5	1481	5	PAX7	1	19062421	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3268465	19062421	230188200	5	92081											
PQLC2	54896	broad.mit.edu	37	chr1	19653095	19653095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttgtacctgctttcccGgctgcctcagatccgcacca	9	16	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:19653095G>T	uc001bby.2	+	7	948	c.596G>T	c.(595-597)CGG>CTG	p.R199L	PQLC2_uc001bbz.2_Missense_Mutation_p.R134L|PQLC2_uc001bca.2_Missense_Mutation_p.R199L|PQLC2_uc001bcb.2_Missense_Mutation_p.R88L|PQLC2_uc001bcc.2_Missense_Mutation_p.R88L	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	199	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		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)		CTGCTTTCCCGGCTGCCTCAG	0.652													T	19653095	G	T	19653095	3	4	168	1	0	0	0	0	1	0	0	0	12419	1116	39	5	614	5	PQLC2	1	19653095	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	590674	19653095	229597526	6	92082											
PLA2G2E	30814	broad.mit.edu	37	chr1	20249202	20249202	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcggacttgcctgtcatcttCtcgatcatcaccccaaactg	7	15	5	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:20249202C>G	uc001bct.1	-	2	145	c.87G>C	c.(85-87)GAG>GAC	p.E29D		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	29					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		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;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|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)		CTGTCATCTTCTCGATCATCA	0.522													G	20249202	C	G	20249202	3	3	168	1	0	0	0	0	1	0	0	0	11998	912	32	5	353	5	PLA2G2E	1	20249202	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	596107	20249202	229001419	7	92083											
EPHA8	2046	broad.mit.edu	37	chr1	22927279	22927279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctatggggagcggccCtactggaacatgaccaaccg	13	13	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:22927279C>T	uc001bfx.1	+	14	2639	c.2514C>T	c.(2512-2514)CCC>CCT	p.P838P		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	838	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GGGAGCGGCCCTACTGGAACA	0.692													T	22927279	C	T	22927279	2	4	168	1	0	0	0	0	0	0	0	1	5173	668	24	4		4	EPHA8	1	22927279	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2678077	22927279	226323342	8	92084											
ASAP3	55616	broad.mit.edu	37	chr1	23763691	23763691	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcgatgagcagctttGtgaggtcgtgcggctcccca	13	14	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:23763691G>C	uc001bha.2	-	14	1398	c.1274C>G	c.(1273-1275)ACA>AGA	p.T425R	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Missense_Mutation_p.T294R|ASAP3_uc010oea.1_Missense_Mutation_p.T416R|ASAP3_uc001bhb.2_5'UTR	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	425					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GAGCAGCTTTGTGAGGTCGTG	0.716													C	23763691	G	C	23763691	3	2	168	1	0	0	0	0	1	0	0	0	1012	1377	48	5	1485	5	ASAP3	1	23763691	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	836412	23763691	225486930	9	92085											
GRHL3	57822	broad.mit.edu	37	chr1	24663062	24663062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagagaacgtgtctggAaccccagagtacccagattt	10	11	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:24663062A>G	uc001biy.2	+	4	418	c.372A>G	c.(370-372)GGA>GGG	p.G124G	GRHL3_uc001bix.2_Silent_p.G119G|GRHL3_uc001biz.2_Silent_p.G26G	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	119					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		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)		ACGTGTCTGGAACCCCAGAGT	0.562													G	24663062	A	G	24663062	2	3	168	1	0	0	0	0	0	0	0	1	6765	233	9	3		3	GRHL3	1	24663062	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	899371	24663062	224587559	10	92086											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888123	26888123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtcctgcacaccattgGcaaaactgtggagtatctgc	9	11	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:26888123G>A	uc001bmr.1	+	17	1722	c.1559G>A	c.(1558-1560)GGC>GAC	p.G520D	RPS6KA1_uc010ofe.1_Missense_Mutation_p.G428D|RPS6KA1_uc010off.1_Missense_Mutation_p.G504D|RPS6KA1_uc001bms.1_Missense_Mutation_p.G529D|RPS6KA1_uc009vsl.1_Missense_Mutation_p.G363D	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	520	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)		CACACCATTGGCAAAACTGTG	0.567													A	26888123	G	A	26888123	3	1	168	1	0	0	0	0	1	0	0	0	13650	1203	42	2	1764	2	RPS6KA1	1	26888123	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2225061	26888123	222362498	11	92087											
ARID1A	8289	broad.mit.edu	37	chr1	27106703	27106731	+	Frame_Shift_Del	DEL	CCCTGGGCCCCAATGCCGTCCTTTCCCCG	CCCTGGGCCCCAATGCCGTCCTTTCCCCG	-													agcccaggaccccttttccaCcctgggccccaatgccgtcc					rs150055041		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:27106702_27106730ACCCTGGGCCCCAATGCCGTCCTTTCCCCG>A	uc001bmv.1	+	19	6686_6714	c.6313_6341ACCCTGGGCCCCAATGCCGTCCTTTCCCCG>A	c.(6313-6342)accctgggccccaatgccgtcctttccccgfs	p.T2105fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1888fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T951fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T433fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T347fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2105					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.L2106M(2)|p.A2110A(2)|p.S2104F(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)		CCCCTTTTCCACCCTGGGCCCCAATGCCGTCCTTTCCCCGCAGAGACTG	0.59			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106731	CCCTGGGCCCCAATGCCGTCCTTTCCCCG	-	27106703	7	5	168	1	0	1	0	1	0	0	0	0	913	507	18	0	6392	0	ARID1A	1	27106703	Frame_Shift_Del	DEL	CCCTGGGCCCCAATGCCGTCCTTTCCCCG	TCGA-CG-4437-01A-01D-1800-08	218580	27106703	222143918	12	92088											
CSMD2	114784	broad.mit.edu	37	chr1	34554768	34554768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaactgtcccattgggacCgtgcagttggaacgtgcagt	12	11	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:34554768C>T	uc001bxn.1	-	2	123	c.94G>A	c.(94-96)GGT>AGT	p.G32S	CSMD2_uc001bxm.1_Missense_Mutation_p.G72S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	32	CUB 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATTGGGACCGTGCAGTTGG	0.527													T	34554768	C	T	34554768	3	4	168	1	0	0	0	0	1	0	0	0	3945	652	23	1	10641	1	CSMD2	1	34554768	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7448065	34554768	214695853	13	92089											
COL8A2	1296	broad.mit.edu	37	chr1	36564121	36564121	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaatgccaggcactccTgggggtcctccaggccctgc	12	17	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:36564121T>A	uc001bzv.1	-	2	1168	c.1161A>T	c.(1159-1161)CCA>CCT	p.P387P	COL8A2_uc001bzw.1_Silent_p.P322P	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	387	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGCACTCCTGGGGGTCCTC	0.692													A	36564121	T	A	36564121	2	1	168	1	0	0	0	0	0	0	0	1	3706	1567	55	5		5	COL8A2	1	36564121	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2009353	36564121	212686500	14	92090											
CSF3R	1441	broad.mit.edu	37	chr1	36932035	36932035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcagtggcccaaagaCacagtcgtcctcctggcttg	12	12	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:36932035C>A	uc001caw.1	-	17	2612	c.2434G>T	c.(2434-2436)GTC>TTC	p.V812F	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Missense_Mutation_p.V374F|CSF3R_uc009vvc.1_Missense_Mutation_p.V341F|CSF3R_uc001cau.1_Missense_Mutation_p.V212F|CSF3R_uc001cav.1_Intron|CSF3R_uc001cax.1_Missense_Mutation_p.V839F|CSF3R_uc001cay.1_3'UTR	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	812	Cytoplasmic (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGCCCAAAGACACAGTCGTCC	0.647													A	36932035	C	A	36932035	3	1	168	1	0	0	0	0	1	0	0	0	3937	478	17	5	189	5	CSF3R	1	36932035	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	367914	36932035	212318586	15	92091											
CSF3R	1441	broad.mit.edu	37	chr1	36938253	36938254	+	Missense_Mutation	DNP	GT	GT	AC													ggggccgcttcagggctgggGtccatggtccgcagcatggg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:36938253_36938254GT>AC	uc001caw.1	-	7	885_886	c.707_708AC>GT	c.(706-708)GAC>GGT	p.D236G	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.D236G|CSF3R_uc001cax.1_Missense_Mutation_p.D236G|CSF3R_uc001cay.1_Missense_Mutation_p.D236G	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	236	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGGCTGGGGTCCATGGTCCG	0.639													AC	36938254	GT	AC	36938253	3	1	168	1	0	0	0	0	1	0	0	0	3937	1252	44	4	2036	4	CSF3R	1	36938253	Missense_Mutation	DNP	GT	TCGA-CG-4437-01A-01D-1800-08	6218	36938253	212312368	16	92092											
EPHA10	284656	broad.mit.edu	37	chr1	38227298	38227298	+	Missense_Mutation	SNP	T	T	G													cccgcacggtggcgcggcacTgcttgtagtagacgcgcacc							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:38227298T>G	uc009vvi.2	-	3	715	c.629A>C	c.(628-630)CAG>CCG	p.Q210P	EPHA10_uc001cbw.3_Missense_Mutation_p.Q210P	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	210	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCGCGGCACTGCTTGTAGTA	0.697													G	38227298	T	G	38227298	3	3	168	1	0	0	0	0	1	0	0	0	5166	1580	55	5	2495	5	EPHA10	1	38227298	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1289045	38227298	211023323	17	92093	447	2									
EPHA10	284656	broad.mit.edu	37	chr1	38227300	38227300	+	Missense_Mutation	SNP	C	C	G													cgcacggtggcgcggcactgCttgtagtagacgcgcaccga							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:38227300C>G	uc009vvi.2	-	3	713	c.627G>C	c.(625-627)AAG>AAC	p.K209N	EPHA10_uc001cbw.3_Missense_Mutation_p.K209N	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	209	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGCGGCACTGCTTGTAGTAGA	0.697													G	38227300	C	G	38227300	3	3	168	1	0	0	0	0	1	0	0	0	5166	796	28	5	2497	5	EPHA10	1	38227300	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2	38227300	211023321	18	92094	447	2									
TMEM53	79639	broad.mit.edu	37	chr1	45120509	45120509	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgggagcaagcaggaCgtggaacaggacgaccacca	15	9	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:45120509C>G	uc001cmc.2	-	3	592	c.556G>C	c.(556-558)GTC>CTC	p.V186L	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.V113L|TMEM53_uc009vxh.1_Missense_Mutation_p.V69L|TMEM53_uc010ola.1_Missense_Mutation_p.V69L	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	186	Helical; (Potential).					integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					GCAAGCAGGACGTGGAACAGG	0.667													G	45120509	C	G	45120509	3	3	168	1	0	0	0	0	1	0	0	0	16176	536	19	5	281	5	TMEM53	1	45120509	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6893209	45120509	204130112	19	92095											
DMBX1	127343	broad.mit.edu	37	chr1	46976756	46976756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccagctggacactgagcaGcccccacgtctgcctggcag	11	17	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:46976756G>T	uc001cpx.2	+	3	513	c.498G>T	c.(496-498)CAG>CAT	p.Q166H	DMBX1_uc001cpw.2_Missense_Mutation_p.Q161H	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	166					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					ACACTGAGCAGCCCCCACGTC	0.647													T	46976756	G	T	46976756	3	4	168	1	0	0	0	0	1	0	0	0	4578	962	34	5	508	5	DMBX1	1	46976756	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1856247	46976756	202273865	20	92096											
C1orf168	199920	broad.mit.edu	37	chr1	57258129	57258129	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgattatctcaacatttgaTtgagtcacctctaacagcag	7	9	3	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:57258129T>C	uc001cym.3	-	2	763	c.357A>G	c.(355-357)CAA>CAG	p.Q119Q	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.Q119Q	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	119										ovary(3)|skin(2)	5						CAACATTTGATTGAGTCACCT	0.408													C	57258129	T	C	57258129	2	2	168	1	0	0	0	0	0	0	0	1	2012	1490	52	3		3	C1orf168	1	57258129	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	10281373	57258129	191992492	21	92097											
C8B	732	broad.mit.edu	37	chr1	57411524	57411524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcctctttgttcataaCgagggtgtattcataaatgc	9	8	3	0	rs148695486	by1000genomes	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:57411524C>T	uc001cyp.2	-	7	1142	c.1075G>A	c.(1075-1077)GTT>ATT	p.V359I	C8B_uc010oon.1_Missense_Mutation_p.V297I|C8B_uc010ooo.1_Missense_Mutation_p.V307I	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	359	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TTGTTCATAACGAGGGTGTAT	0.468													T	57411524	C	T	57411524	3	4	168	1	0	0	0	0	1	0	0	0	2417	536	19	1	724	1	C8B	1	57411524	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	153395	57411524	191839097	22	92098											
ROR1	4919	broad.mit.edu	37	chr1	64515551	64515551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatggctctcggctgcggAttagaaacctcgacaccaca	9	13	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:64515551A>G	uc001dbj.2	+	3	751	c.352A>G	c.(352-354)ATT>GTT	p.I118V	ROR1_uc001dbi.3_Missense_Mutation_p.I118V	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	118	Ig-like C2-type.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TCGGCTGCGGATTAGAAACCT	0.552													G	64515551	A	G	64515551	3	3	168	1	0	0	0	0	1	0	0	0	13526	333	12	3	362	3	ROR1	1	64515551	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	7104027	64515551	184735070	23	92099											
LEPR	3953	broad.mit.edu	37	chr1	66102502	66102502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgacaagtcaagggtatCgtgcccattcccagccccct	9	15	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:66102502C>T	uc001dci.2	+	20	3504	c.3302C>T	c.(3301-3303)TCG>TTG	p.S1101L	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1101	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCAAGGGTATCGTGCCCATTC	0.403													T	66102502	C	T	66102502	3	4	168	1	0	0	0	0	1	0	0	0	8728	893	31	1	3602	1	LEPR	1	66102502	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1586951	66102502	183148119	24	92100											
CTH	1491	broad.mit.edu	37	chr1	70904487	70904487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacctactggaagatcTagatcaagctttgaaggcag	12	7	2	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:70904487T>C	uc001dfd.2	+	11	1313	c.1169T>C	c.(1168-1170)CTA>CCA	p.L390P	CTH_uc001dfe.2_Missense_Mutation_p.L346P|CTH_uc010oqq.1_Missense_Mutation_p.L358P	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	390					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGGAAGATCTAGATCAAGCT	0.363													C	70904487	T	C	70904487	3	2	168	1	0	0	0	0	1	0	0	0	4009	1522	53	3	1211	3	CTH	1	70904487	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	4801985	70904487	178346134	25	92101											
SYDE2	84144	broad.mit.edu	37	chr1	85648626	85648626	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtatgatgaacttctcGgcagttatatttagacaaag	8	6	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:85648626G>A	uc009wcm.2	-	3	1748	c.1699C>T	c.(1699-1701)CGA>TGA	p.R567*	SYDE2_uc001dku.3_Nonsense_Mutation_p.R567*	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	567					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		TGAACTTCTCGGCAGTTATAT	0.398													A	85648626	G	A	85648626	4	1	168	1	0	0	0	0	0	1	0	0	15433	1124	39	1	1905	1	SYDE2	1	85648626	Nonsense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	14744139	85648626	163601995	26	92102											
COL24A1	255631	broad.mit.edu	37	chr1	86591326	86591326	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatatctgcagtagtctgcAgatgcttctgcagaaggaat	10	8	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:86591326A>C	uc001dlj.2	-	3	735	c.693T>G	c.(691-693)TCT>TCG	p.S231S	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.S231S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	231					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGTAGTCTGCAGATGCTTCTG	0.358													C	86591326	A	C	86591326	2	2	168	1	0	0	0	0	0	0	0	1	3683	175	7	5		5	COL24A1	1	86591326	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	942700	86591326	162659295	27	92103											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643575	94643601	+	In_Frame_Del	DEL	ACTCTACCAAGCGTGCTTGATTTGAAT	ACTCTACCAAGCGTGCTTGATTTGAAT	-													ctgtgagtaagtaatgagaaActctaccaagcgtgcttgat					rs147929232	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:94643574_94643600AACTCTACCAAGCGTGCTTGATTTGAAT>A	uc001dqj.4	-	20	2973_2999	c.2604_2630ATTCAAATCAAGCACGCTTGGTAGAGTT>T	c.(2602-2631)tattcaaatcaagcacgcttggtagagttt>taTt	p.SNQARLVEF869del	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_In_Frame_Del_p.SNQARLVEF435del	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	869	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			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)		AGTAATGAGAAACTCTACCAAGCGTGCTTGATTTGAATACTCTGCAA	0.445													-	94643601	ACTCTACCAAGCGTGCTTGATTTGAAT	-	94643575	7	5	168	1	0	1	0	1	0	0	0	0	878	43	2	0	1168	0	ARHGAP29	1	94643575	In_Frame_Del	DEL	ACTCTACCAAGCGTGCTTGATTTGAAT	TCGA-CG-4437-01A-01D-1800-08	8052249	94643575	154607046	28	92104											
FNDC7	163479	broad.mit.edu	37	chr1	109270518	109270518	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccgtggtgccgaactGtatgaaaccaaggctgtaga	12	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:109270518G>C	uc001dvx.2	+	7	1200	c.1200G>C	c.(1198-1200)CTG>CTC	p.L400L	FNDC7_uc010ova.1_Silent_p.L167L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	401	Fibronectin type-III 5.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGCCGAACTGTATGAAACCA	0.507													C	109270518	G	C	109270518	2	2	168	1	0	0	0	0	0	0	0	1	5973	1364	48	5		5	FNDC7	1	109270518	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	14626943	109270518	139980103	29	92105											
SLC6A17	388662	broad.mit.edu	37	chr1	110714700	110714700	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttacctggtgccctAcctggtgctgctgatcatca	11	12	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:110714700A>T	uc009wfq.2	+	3	766	c.305A>T	c.(304-306)TAC>TTC	p.Y102F		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	102	Helical; Name=2; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		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)		CTGGTGCCCTACCTGGTGCTG	0.617													T	110714700	A	T	110714700	3	4	168	1	0	0	0	0	1	0	0	0	14680	391	14	5	311	5	SLC6A17	1	110714700	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1444182	110714700	138535921	30	92106											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112998804	112998804	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagagaaagagaggcttgcaGactgaggcccaggtagagaa	16	6	0	5			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:112998804G>T	uc001ebx.2	+	6	918	c.690G>T	c.(688-690)CAG>CAT	p.Q230H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	230	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		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)		GAGGCTTGCAGACTGAGGCCC	0.502													T	112998804	G	T	112998804	3	4	168	1	0	0	0	0	1	0	0	0	4046	933	33	5	704	5	CTTNBP2NL	1	112998804	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2284104	112998804	136251817	31	92107											
NOTCH2	4853	broad.mit.edu	37	chr1	120497838	120497838	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaggcacactcatcaatgtCaatgttacatctctgccctg	8	12	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:120497838C>G	uc001eik.2	-	13	2300	c.2044G>C	c.(2044-2046)GAC>CAC	p.D682H	NOTCH2_uc001eil.2_Missense_Mutation_p.D682H|NOTCH2_uc001eim.3_Missense_Mutation_p.D599H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	682	EGF-like 18; calcium-binding (Potential).|Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TCATCAATGTCAATGTTACAT	0.483			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				G	120497838	C	G	120497838	3	3	168	1	0	0	0	0	1	0	0	0	10548	826	29	5	5459	5	NOTCH2	1	120497838	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7499034	120497838	128752783	32	92108											
ITGA10	8515	broad.mit.edu	37	chr1	145530340	145530340	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacccctggtctgaagttcaGaccttcctacgaagactggt	9	12	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:145530340G>C	uc001eoa.2	+	6	631	c.555G>C	c.(553-555)CAG>CAC	p.Q185H	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.Q54H|ITGA10_uc009wiw.2_Missense_Mutation_p.Q42H|ITGA10_uc010oyw.1_Missense_Mutation_p.Q130H	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	185	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGAAGTTCAGACCTTCCTAC	0.488													C	145530340	G	C	145530340	3	2	168	1	0	0	0	0	1	0	0	0	7873	933	33	5	577	5	ITGA10	1	145530340	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	25032502	145530340	103720281	33	92109											
GJA5	2702	broad.mit.edu	37	chr1	147231318	147231318	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgtacttcctccaggAaatttcccaggaagctccaa	8	12	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:147231318A>C	uc001eps.1	-	2	170	c.29T>G	c.(28-30)TTC>TGC	p.F10C	GJA5_uc001ept.1_Missense_Mutation_p.F10C	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	10	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTCCTCCAGGAAATTTCCCAG	0.517													C	147231318	A	C	147231318	3	2	168	1	0	0	0	0	1	0	0	0	6404	246	9	5	1051	5	GJA5	1	147231318	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1700978	147231318	102019303	34	92110											
RFX5	5993	broad.mit.edu	37	chr1	151314865	151314874	+	Frame_Shift_Del	DEL	GCTGGGAACC	GCTGGGAACC	-													atcttctgcttctttggtatGctgggaaccggggccccttc							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:151314864_151314873TGCTGGGAACC>T	uc001exv.1	-	10	1854_1863	c.1640_1649GGTTCCCAGCA>A	c.(1639-1650)ggttcccagcatfs	p.G547fs	RFX5_uc001exw.1_Frame_Shift_Del_p.G547fs|RFX5_uc010pcx.1_Frame_Shift_Del_p.G507fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	547						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)			TTCTTTGGTATGCTGGGAACCGGGGCCCCT	0.548													-	151314874	GCTGGGAACC	-	151314865	7	5	168	1	0	1	0	1	0	0	0	0	13266	1319	46	0	206	0	RFX5	1	151314865	Frame_Shift_Del	DEL	GCTGGGAACC	TCGA-CG-4437-01A-01D-1800-08	4083547	151314865	97935756	35	92111											
SMCP	4184	broad.mit.edu	37	chr1	152856909	152856909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagaagatgtgtgaccAgacaaaacacagtaaatgct	9	7	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:152856909A>T	uc001fat.2	+	2	156	c.11A>T	c.(10-12)CAG>CTG	p.Q4L		NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	4					penetration of zona pellucida|sperm motility	mitochondrial membrane					0	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)			ATGTGTGACCAGACAAAACAC	0.448													T	152856909	A	T	152856909	3	4	168	1	0	0	0	0	1	0	0	0	14789	188	7	5	13	5	SMCP	1	152856909	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1542044	152856909	96393712	36	92112											
DCST2	127579	broad.mit.edu	37	chr1	155005612	155005612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagcacttcggcggtctGgttcagggccagctctgccc	13	14	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:155005612G>C	uc001fgm.2	-	2	477	c.397C>G	c.(397-399)CAG>GAG	p.Q133E	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	133	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	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)			TCGGCGGTCTGGTTCAGGGCC	0.627													C	155005612	G	C	155005612	3	2	168	1	0	0	0	0	1	0	0	0	4303	1357	47	5	1980	5	DCST2	1	155005612	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2148703	155005612	94245009	37	92113											
RHBG	57127	broad.mit.edu	37	chr1	156339103	156339103	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcccctgctgtgcctcttCctccagggcgccactgccgt	9	19	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:156339103C>T	uc010pho.1	+	1	101	c.63C>T	c.(61-63)TTC>TTT	p.F21F	RHBG_uc010phm.1_Silent_p.F21F|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	21	Helical; (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					TGTGCCTCTTCCTCCAGGGCG	0.662													T	156339103	C	T	156339103	2	4	168	1	0	0	0	0	0	0	0	1	13324	854	30	4		4	RHBG	1	156339103	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1333491	156339103	92911518	38	92114											
OR10Z1	128368	broad.mit.edu	37	chr1	158577100	158577100	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttaatcccattgtttataGtctaaggaatagggctatac	7	8	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:158577100G>T	uc010pio.1	+	1	872	c.872G>T	c.(871-873)AGT>ATT	p.S291I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					ATTGTTTATAGTCTAAGGAAT	0.463													T	158577100	G	T	158577100	3	4	168	1	0	0	0	0	1	0	0	0	10923	1029	36	5	874	5	OR10Z1	1	158577100	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2237997	158577100	90673521	39	92115											
ATP1A2	477	broad.mit.edu	37	chr1	160104959	160104959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggcatgcgtggtgcaCggctctgacctgaaggacat	14	11	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:160104959C>T	uc001fvc.2	+	15	2121	c.1989C>T	c.(1987-1989)CAC>CAT	p.H663H	ATP1A2_uc001fvb.2_Silent_p.H663H|ATP1A2_uc001fvd.2_Silent_p.H399H	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	663	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			GCGTGGTGCACGGCTCTGACC	0.597													T	160104959	C	T	160104959	2	4	168	1	0	0	0	0	0	0	0	1	1129	535	19	1		1	ATP1A2	1	160104959	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1527859	160104959	89145662	40	92116											
OLFML2B	25903	broad.mit.edu	37	chr1	161953891	161953891	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccatcgccagggggtGgcctcctcgtaggccacgtc	13	17	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:161953891G>C	uc001gbu.2	-	8	2251	c.1827C>G	c.(1825-1827)GCC>GCG	p.A609A	OLFML2B_uc001gbt.2_Silent_p.A92A|OLFML2B_uc010pkq.1_Silent_p.A610A	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	609	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCCAGGGGGTGGCCTCCTCGT	0.617													C	161953891	G	C	161953891	2	2	168	1	0	0	0	0	0	0	0	1	10858	1335	47	5		5	OLFML2B	1	161953891	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1848932	161953891	87296730	41	92117											
C1orf49	84066	broad.mit.edu	37	chr1	178489991	178489991	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctcactggatccccttcaTcactgtgggacctgctgcgt	11	14	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:178489991T>A	uc001glt.1	+	7	637	c.525T>A	c.(523-525)CAT>CAA	p.H175Q	C1orf49_uc001glu.1_Missense_Mutation_p.H175Q|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Missense_Mutation_p.H183Q	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	hypothetical protein LOC84066	175						microtubule cytoskeleton					0						ATCCCCTTCATCACTGTGGGA	0.577													A	178489991	T	A	178489991	3	1	168	1	0	0	0	0	1	0	0	0	2041	1432	50	5	575	5	C1orf49	1	178489991	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	16536100	178489991	70760630	42	92118											
ZNF648	127665	broad.mit.edu	37	chr1	182026102	182026102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggtgtttgcgcaggtcCgaagagcgcacgaaggcctt	15	11	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:182026102C>T	uc001goz.2	-	2	1252	c.1044G>A	c.(1042-1044)TCG>TCA	p.S348S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	348	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCGCAGGTCCGAAGAGCGCA	0.632													T	182026102	C	T	182026102	2	4	168	1	0	0	0	0	0	0	0	1	18060	639	23	1		1	ZNF648	1	182026102	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3536111	182026102	67224519	43	92119											
HMCN1	83872	broad.mit.edu	37	chr1	185894223	185894223	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaaaaccccaggatactatCtgcagccgggccaaattccc	8	14	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:185894223C>G	uc001grq.1	+	9	1559	c.1330C>G	c.(1330-1332)CTG>GTG	p.L444V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	444	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGGATACTATCTGCAGCCGGG	0.393													G	185894223	C	G	185894223	3	3	168	1	0	0	0	0	1	0	0	0	7220	912	32	5	1364	5	HMCN1	1	185894223	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3868121	185894223	63356398	44	92120											
HMCN1	83872	broad.mit.edu	37	chr1	186056779	186056779	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacattaagaaagctgaggTgcatcttttattcttgtttg	8	6	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:186056779T>A	uc001grq.1	+	60	9592	c.9363_splice	c.e60+2	p.E3121_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAAGCTGAGGTGCATCTTTTA	0.403													A	186056779	T	A	186056779	5	1	168	1	0	0	0	0	0	0	1	0	7220	1710	59	5	9603	5	HMCN1	1	186056779	Splice_Site	SNP	T	TCGA-CG-4437-01A-01D-1800-08	162556	186056779	63193842	45	92121											
KIF14	9928	broad.mit.edu	37	chr1	200559309	200559309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctttttgagaagaaaGctcttgctgagccatttctt	9	8	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:200559309G>T	uc010ppk.1	-	17	3344	c.2905C>A	c.(2905-2907)CTT>ATT	p.L969I	KIF14_uc010ppj.1_Missense_Mutation_p.L478I	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	969	Potential.|Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TGAGAAGAAAGCTCTTGCTGA	0.368													T	200559309	G	T	200559309	3	4	168	1	0	0	0	0	1	0	0	0	8276	971	34	5	2097	5	KIF14	1	200559309	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	14502530	200559309	48691312	46	92122											
LAD1	3898	broad.mit.edu	37	chr1	201354882	201354918	+	Frame_Shift_Del	DEL	GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT	GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT	-													gagggagctgctgtaggttcGctgtgtgggtgaggacatat					rs144111813	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:201354881_201354917CGCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT>C	uc001gwm.3	-	3	1278_1314	c.1043_1079AAGGAGGAAGAGGCAGATATGTCCTCACCCACACAGCG>G	c.(1042-1080)aaggaggaagaggcagatatgtcctcacccacacagcgafs	p.K348fs	LAD1_uc009wzu.1_Frame_Shift_Del_p.K370fs	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	348						basement membrane	structural molecule activity	p.S356L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTTGCTGGGGAT	0.612											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	201354918	GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT	-	201354882	7	5	168	1	0	1	0	1	0	0	0	0	8599	1095	38	0	503	0	LAD1	1	201354882	Frame_Shift_Del	DEL	GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT	TCGA-CG-4437-01A-01D-1800-08	795573	201354882	47895739	47	92123											
MYBPH	4608	broad.mit.edu	37	chr1	203144770	203144770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctgctcttctctggtGgactctgatactgccacttc	9	14	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:203144770G>A	uc001gzh.1	-	1	173	c.114C>T	c.(112-114)TCC>TCT	p.S38S	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	38					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CTTCTCTGGTGGACTCTGATA	0.632													A	203144770	G	A	203144770	2	1	168	1	0	0	0	0	0	0	0	1	10014	1335	47	4		4	MYBPH	1	203144770	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1789888	203144770	46105851	48	92124											
NFASC	23114	broad.mit.edu	37	chr1	204943805	204943805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaagaatgggcaaggaaGcaacctggatggtggcaact	14	6	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:204943805G>A	uc001hbj.2	+	14	1740	c.1412G>A	c.(1411-1413)AGC>AAC	p.S471N	NFASC_uc001hbh.2_Missense_Mutation_p.S471N|NFASC_uc010pqz.1_Missense_Mutation_p.S465N|NFASC_uc010pra.1_Missense_Mutation_p.S482N|NFASC_uc001hbi.2_Missense_Mutation_p.S482N|NFASC_uc009xbg.1_3'UTR|NFASC_uc010prb.1_Missense_Mutation_p.S482N|NFASC_uc010prc.1_Missense_Mutation_p.S38N|NFASC_uc001hbk.1_Missense_Mutation_p.S292N	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	471	Extracellular (Potential).|Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GGGCAAGGAAGCAACCTGGAT	0.517													A	204943805	G	A	204943805	3	1	168	1	0	0	0	0	1	0	0	0	10359	971	34	2	1513	2	NFASC	1	204943805	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1799035	204943805	44306816	49	92125											
TMCC2	9911	broad.mit.edu	37	chr1	205210856	205210856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacgacctgcccgcccGgcccaccgccttcaaccgcg	9	23	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:205210856G>A	uc001hbz.1	+	3	875	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	TMCC2_uc010prf.1_Missense_Mutation_p.R66Q	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	144						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGCCCGCCCGGCCCACCGCC	0.582													A	205210856	G	A	205210856	3	1	168	1	0	0	0	0	1	0	0	0	15990	1116	39	1	437	1	TMCC2	1	205210856	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	267051	205210856	44039765	50	92126											
IKBKE	9641	broad.mit.edu	37	chr1	206647762	206647762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgagggagtttgaggtccTgcggaagctgaaccaccaga	15	8	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:206647762T>C	uc001hdz.1	+	4	544	c.176T>C	c.(175-177)CTG>CCG	p.L59P	IKBKE_uc009xbu.1_Missense_Mutation_p.L59P|IKBKE_uc009xbv.1_Missense_Mutation_p.L59P|IKBKE_uc001hea.1_5'UTR	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	59	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			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					TTTGAGGTCCTGCGGAAGCTG	0.562													C	206647762	T	C	206647762	3	2	168	1	0	0	0	0	1	0	0	0	7612	1580	55	3	182	3	IKBKE	1	206647762	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1436906	206647762	42602859	51	92127											
CR1L	1379	broad.mit.edu	37	chr1	207850787	207850787	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaggcctaccaacctaactGatgactttgagtttcccatt	6	13	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:207850787G>A	uc001hga.3	+	2	272	c.151G>A	c.(151-153)GAT>AAT	p.D51N	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	51	Sushi 1.					cytoplasm|extracellular region|membrane					0						CAACCTAACTGATGACTTTGA	0.458													A	207850787	G	A	207850787	3	1	168	1	0	0	0	0	1	0	0	0	3841	1290	45	4	157	4	CR1L	1	207850787	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1203025	207850787	41399834	52	92128											
LAMB3	3914	broad.mit.edu	37	chr1	209799127	209799127	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccacggtcctccagCccaggccctgaccacaggct	11	19	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:209799127C>G	uc001hhg.2	-	13	2232	c.1842G>C	c.(1840-1842)GGG>GGC	p.G614G	LAMB3_uc009xco.2_Silent_p.G614G|LAMB3_uc001hhh.2_Silent_p.G614G|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	614	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTCCTCCAGCCCAGGCCCTG	0.632													G	209799127	C	G	209799127	2	3	168	1	0	0	0	0	0	0	0	1	8612	726	26	5		5	LAMB3	1	209799127	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1948340	209799127	39451494	53	92129											
USH2A	7399	broad.mit.edu	37	chr1	215844540	215844540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacctccagatgtggagggGgttgcatcaaaggtgcaatc	14	8	1	1	rs150600947		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:215844540G>T	uc001hku.1	-	64	14294	c.13907C>A	c.(13906-13908)CCC>CAC	p.P4636H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4636	Fibronectin type-III 32.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGTGGAGGGGGTTGCATCAA	0.483										HNSCC(13;0.011)			T	215844540	G	T	215844540	3	4	168	1	0	0	0	0	1	0	0	0	17033	1232	43	5	1737	5	USH2A	1	215844540	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	6045413	215844540	33406081	54	92130											
SLC30A10	55532	broad.mit.edu	37	chr1	220091794	220091794	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatggccgtgatgaccacaAccacggaccccagggcatct	11	14	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:220091794A>T	uc001hlw.2	-	3	972	c.761T>A	c.(760-762)GTT>GAT	p.V254D	SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlv.2_Missense_Mutation_p.V9D|SLC30A10_uc001hlx.2_Missense_Mutation_p.V29D	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	254	Helical; (Potential).|Poly-Val.				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GATGACCACAACCACGGACCC	0.527													T	220091794	A	T	220091794	3	4	168	1	0	0	0	0	1	0	0	0	14554	43	2	5	704	5	SLC30A10	1	220091794	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	4247254	220091794	29158827	55	92131											
DEGS1	8560	broad.mit.edu	37	chr1	224377672	224377672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtaccgctttcagaaAgtttatatgggttattcttc	7	8	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:224377672A>G	uc001hoj.2	+	2	587	c.476A>G	c.(475-477)AAG>AGG	p.K159R	DEGS1_uc001hoi.2_Missense_Mutation_p.K138R	NM_144780	NP_659004	O15121	DEGS1_HUMAN	degenerative spermatocyte homolog 1, lipid	159	Helical; (Potential).				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity				0	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GCTTTCAGAAAGTTTATATGG	0.438													G	224377672	A	G	224377672	3	3	168	1	0	0	0	0	1	0	0	0	4422	72	3	3	482	3	DEGS1	1	224377672	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	4285878	224377672	24872949	56	92132											
CNIH3	149111	broad.mit.edu	37	chr1	224922345	224922345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccgacactttgagttactGtcagaaggaggcctggtgta	13	8	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:224922345G>T	uc001hos.1	+	5	1090	c.392G>T	c.(391-393)TGT>TTT	p.C131F		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	131	Cytoplasmic (Potential).				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|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TTGAGTTACTGTCAGAAGGAG	0.522													T	224922345	G	T	224922345	3	4	168	1	0	0	0	0	1	0	0	0	3604	1377	48	5	410	5	CNIH3	1	224922345	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	544673	224922345	24328276	57	92133											
C1orf55	163859	broad.mit.edu	37	chr1	226175773	226175773	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actctctgccttcttctcctGggtctcttctgtttctgtaa	6	13	6	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:226175773G>C	uc001hpu.3	-	6	1011	c.958C>G	c.(958-960)CAG>GAG	p.Q320E	C1orf55_uc001hpv.2_Missense_Mutation_p.Q320E	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	320										lung(1)	1	Breast(184;0.197)					TTCTTCTCCTGGGTCTCTTCT	0.488													C	226175773	G	C	226175773	3	2	168	1	0	0	0	0	1	0	0	0	2047	1357	47	5	405	5	C1orf55	1	226175773	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1253428	226175773	23074848	58	92134											
GALNT2	2590	broad.mit.edu	37	chr1	230379172	230379172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggaaagggtggcggAggtgagatgacgggggctgg	21	7	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:230379172A>C	uc010pwa.1	+	7	800	c.728A>C	c.(727-729)GAG>GCG	p.E243A	GALNT2_uc010pvy.1_Missense_Mutation_p.E205A|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	243	Lumenal (Potential).				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			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGGGTGGCGGAGGTGAGATGA	0.642													C	230379172	A	C	230379172	3	2	168	1	0	0	0	0	1	0	0	0	6213	318	11	5	754	5	GALNT2	1	230379172	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	4203399	230379172	18871449	59	92135											
ADSS	159	broad.mit.edu	37	chr1	244582180	244582180	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtacaaacacctccaAcagtacaatttgaagaggtt	6	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:244582180A>T	uc001iaj.2	-	9	1121	c.827T>A	c.(826-828)GTT>GAT	p.V276D		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	276					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-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(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	AACACCTCCAACAGTACAATT	0.353													T	244582180	A	T	244582180	3	4	168	1	0	0	0	0	1	0	0	0	347	43	2	5	563	5	ADSS	1	244582180	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	14203008	244582180	4668441	60	92136											
PPPDE1	51029	broad.mit.edu	37	chr1	244849945	244849945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggaattggagtttttcAttcaggaattgaagtctatg	10	4	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:244849945A>C	uc001iao.2	+	2	353	c.89A>C	c.(88-90)CAT>CCT	p.H30P	PPPDE1_uc001iap.2_Missense_Mutation_p.H30P	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	30	PPPDE peptidase.									breast(3)	3						GGAGTTTTTCATTCAGGAATT	0.328													C	244849945	A	C	244849945	3	2	168	1	0	0	0	0	1	0	0	0	12408	217	8	5	95	5	PPPDE1	1	244849945	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	267765	244849945	4400676	61	92137											
OR14A16	284532	broad.mit.edu	37	chr1	247978674	247978674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacatatagcagtatagcGgtcaaaggacatcaccgtga	11	8	2	2	rs147527565		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr1:247978674G>A	uc001idm.1	-	1	358	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCAGTATAGCGGTCAAAGGAC	0.493													A	247978674	G	A	247978674	3	1	168	1	0	0	0	0	1	0	0	0	10945	1116	39	1	575	1	OR14A16	1	247978674	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3128729	247978674	1271947	62	92138											
GREB1	9687	broad.mit.edu	37	chr2	11765369	11765369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgccctttgactacAtcattcacgacccgaagtat	7	11	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:11765369A>G	uc002rbk.1	+	24	4537	c.4237A>G	c.(4237-4239)ATC>GTC	p.I1413V	GREB1_uc002rbp.1_Missense_Mutation_p.I411V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1413						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTTGACTACATCATTCACGA	0.473													G	11765369	A	G	11765369	3	3	168	1	0	0	0	0	1	0	0	0	6760	217	8	3	4435	3	GREB1	2	11765369	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08		11765369	231434004	63	92139											
APOB	338	broad.mit.edu	37	chr2	21228333	21228333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaatcaaggagtcttctgGttgagaatattttgttaaca	11	4	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:21228333G>A	uc002red.2	-	26	11535	c.11407C>T	c.(11407-11409)CCA>TCA	p.P3803S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3803					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGTCTTCTGGTTGAGAATAT	0.413													A	21228333	G	A	21228333	3	1	168	1	0	0	0	0	1	0	0	0	785	1261	44	4	2300	4	APOB	2	21228333	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	9462964	21228333	221971040	64	92140											
GPR113	165082	broad.mit.edu	37	chr2	26536310	26536310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggaccggcccccagaCtccgtcagccccacagagcc	11	19	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:26536310C>T	uc002rhe.3	-	9	1408	c.1408G>A	c.(1408-1410)GTC>ATC	p.V470I	GPR113_uc010yky.1_Missense_Mutation_p.V401I|GPR113_uc002rhb.1_Missense_Mutation_p.V73I|GPR113_uc010eyk.1_Missense_Mutation_p.V271I|GPR113_uc002rhc.1_Missense_Mutation_p.V73I|GPR113_uc002rhd.1_RNA	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	470	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCCCAGACTCCGTCAGCC	0.637													T	26536310	C	T	26536310	3	4	168	1	0	0	0	0	1	0	0	0	6630	565	20	4	1940	4	GPR113	2	26536310	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	5307977	26536310	216663063	65	92141											
VIT	5212	broad.mit.edu	37	chr2	37041500	37041500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaactcacagcctcggaActgaattcagagcaggcaga	10	11	3	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:37041500A>C	uc002rpl.2	+	16	2299	c.2078A>C	c.(2077-2079)AAC>ACC	p.N693T	VIT_uc002rpm.2_Missense_Mutation_p.N671T|VIT_uc010ezv.2_Missense_Mutation_p.N649T|VIT_uc010ezw.2_Missense_Mutation_p.N650T	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	678						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CAGCCTCGGAACTGAATTCAG	0.512													C	37041500	A	C	37041500	3	2	168	1	0	0	0	0	1	0	0	0	17168	43	2	5	2261	5	VIT	2	37041500	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	10505190	37041500	206157873	66	92142											
FSHR	2492	broad.mit.edu	37	chr2	49210097	49210097	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaacatcattaggcaattCttctaaattattattatcgc	4	7	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:49210097C>T	uc002rww.2	-	8	696	c.622G>A	c.(622-624)GAA>AAA	p.E208K	FSHR_uc002rwx.2_Missense_Mutation_p.E208K|FSHR_uc010fbn.2_Missense_Mutation_p.E182K	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	208	LRR 7.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	TTAGGCAATTCTTCTAAATTA	0.398									Gonadal_Dysgenesis_46_XX				T	49210097	C	T	49210097	3	4	168	1	0	0	0	0	1	0	0	0	6073	922	32	4	1477	4	FSHR	2	49210097	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	12168597	49210097	193989276	67	92143											
RPS27A	6233	broad.mit.edu	37	chr2	55461288	55461288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagagactgatctttgCtggcaagcagctggaagatg	13	8	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:55461288C>T	uc010yow.1	+	4	334	c.137C>T	c.(136-138)GCT>GTT	p.A46V	C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.A46V|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	NM_001135592	NP_001129064	P62979	RS27A_HUMAN	ubiquitin and ribosomal protein S27a precursor	46	Ubiquitin-like.				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	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			ovary(1)	1						CTGATCTTTGCTGGCAAGCAG	0.398													T	55461288	C	T	55461288	3	4	168	1	0	0	0	0	1	0	0	0	13639	797	28	2	147	2	RPS27A	2	55461288	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6251191	55461288	187738085	68	92144											
CCDC88A	55704	broad.mit.edu	37	chr2	55615954	55615954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaccaaaatggatagaTtgtgcattctaagtgaggca	10	7	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:55615954T>C	uc002ryv.2	-	3	1075	c.233A>G	c.(232-234)AAT>AGT	p.N78S	CCDC88A_uc010yoz.1_Missense_Mutation_p.N78S|CCDC88A_uc010ypa.1_Missense_Mutation_p.N78S	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	78					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			ovary(2)|skin(2)	4						AATGGATAGATTGTGCATTCT	0.269													C	55615954	T	C	55615954	3	2	168	1	0	0	0	0	1	0	0	0	2863	1493	52	3	5502	3	CCDC88A	2	55615954	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	154666	55615954	187583419	69	92145											
ACTG2	72	broad.mit.edu	37	chr2	74141874	74141874	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccctggattttgagaatgaGatggccacagcagcttcctc	11	11	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:74141874G>C	uc002sjw.2	+	7	803	c.681G>C	c.(679-681)GAG>GAC	p.E227D	ACTG2_uc010fey.2_Missense_Mutation_p.E227D|ACTG2_uc010yrn.1_Missense_Mutation_p.E184D	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	227					muscle contraction	cytoskeleton|cytosol	ATP binding				0						TTGAGAATGAGATGGCCACAG	0.517													C	74141874	G	C	74141874	3	2	168	1	0	0	0	0	1	0	0	0	197	933	33	5	703	5	ACTG2	2	74141874	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	18525920	74141874	169057499	70	92146											
CCDC142	84865	broad.mit.edu	37	chr2	74702165	74702165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtctggcggagatcagggGacaggctccactgctcctct	15	12	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:74702165G>A	uc002slr.2	-	8	2267	c.1874C>T	c.(1873-1875)TCC>TTC	p.S625F	MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.S618F|CCDC142_uc002slp.2_Missense_Mutation_p.S625F	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	625										central_nervous_system(1)	1						GAGATCAGGGGACAGGCTCCA	0.597													A	74702165	G	A	74702165	3	1	168	1	0	0	0	0	1	0	0	0	2776	1174	41	4	386	4	CCDC142	2	74702165	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	560291	74702165	168497208	71	92147											
HTRA2	27429	broad.mit.edu	37	chr2	74757811	74757811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggtggctgccgatgggCtcattgtcaccaacgcccat	12	13	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:74757811C>A	uc002smi.1	+	2	1176	c.574C>A	c.(574-576)CTC>ATC	p.L192I	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.L192I|HTRA2_uc002smk.1_Missense_Mutation_p.L192I|HTRA2_uc002sml.1_Missense_Mutation_p.L192I|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	192	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						TGCCGATGGGCTCATTGTCAC	0.597													A	74757811	C	A	74757811	3	1	168	1	0	0	0	0	1	0	0	0	7454	797	28	5	580	5	HTRA2	2	74757811	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	55646	74757811	168441562	72	92148											
KCNIP3	30818	broad.mit.edu	37	chr2	96040133	96040133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagaccaagttcaccaagAaggagctgcagtctctctac	8	14	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:96040133A>G	uc002sup.2	+	3	386	c.271A>G	c.(271-273)AAG>GAG	p.K91E	KCNIP3_uc002suq.2_Missense_Mutation_p.K65E	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	91	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		GTTCACCAAGAAGGAGCTGCA	0.602													G	96040133	A	G	96040133	3	3	168	1	0	0	0	0	1	0	0	0	8041	247	9	3	388	3	KCNIP3	2	96040133	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	21282322	96040133	147159240	73	92149											
VWA3B	200403	broad.mit.edu	37	chr2	98797602	98797602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatgatgtgcttgccgactGctctttccgccacgctgatg	11	12	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:98797602G>T	uc002syo.2	+	9	1502	c.1238G>T	c.(1237-1239)TGC>TTC	p.C413F	VWA3B_uc010yvh.1_Missense_Mutation_p.C263F|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.C413F|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.C70F	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	413										ovary(3)|large_intestine(2)|skin(1)	6						CTTGCCGACTGCTCTTTCCGC	0.527													T	98797602	G	T	98797602	3	4	168	1	0	0	0	0	1	0	0	0	17238	1319	46	5	1268	5	VWA3B	2	98797602	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2757469	98797602	144401771	74	92150											
CNGA3	1261	broad.mit.edu	37	chr2	99012681	99012681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagcatgggcgcctctccAggaagtacatttacagtctc	10	12	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:99012681A>G	uc002syt.2	+	8	1465	c.1048A>G	c.(1048-1050)AGG>GGG	p.R350G	CNGA3_uc002syu.2_Missense_Mutation_p.R332G|CNGA3_uc010fij.2_Missense_Mutation_p.R354G	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	350					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCGCCTCTCCAGGAAGTACAT	0.507													G	99012681	A	G	99012681	3	3	168	1	0	0	0	0	1	0	0	0	3598	179	7	3	1074	3	CNGA3	2	99012681	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	215079	99012681	144186692	75	92151											
SLC9A2	6549	broad.mit.edu	37	chr2	103281631	103281631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgtgtttgcaggaatcGccaacttctttgttgtggga	12	6	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:103281631G>A	uc002tca.2	+	3	968	c.826G>A	c.(826-828)GCC>ACC	p.A276T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	276	Extracellular (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						TGCAGGAATCGCCAACTTCTT	0.433													A	103281631	G	A	103281631	3	1	168	1	0	0	0	0	1	0	0	0	14712	1087	38	1	836	1	SLC9A2	2	103281631	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4268950	103281631	139917742	76	92152											
POU3F3	5455	broad.mit.edu	37	chr2	105472909	105472909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacccgcactcggacgAggacacgccgacgtcggacg	13	17	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:105472909A>T	uc010ywg.1	+	1	941	c.941A>T	c.(940-942)GAG>GTG	p.E314V		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	314	POU-specific.				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			ovary(1)	1						CACTCGGACGAGGACACGCCG	0.637													T	105472909	A	T	105472909	3	4	168	1	0	0	0	0	1	0	0	0	12276	304	11	5	943	5	POU3F3	2	105472909	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2191278	105472909	137726464	77	92153											
RANBP2	5903	broad.mit.edu	37	chr2	109365363	109365376	+	Splice_Site	DEL	ATTTTTTTTTCAGG	ATTTTTTTTTCAGG	-													aagtgatggaaataacttaaAtttttttttcagggcacatg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:109365362_109365375AATTTTTTTTTCAGG>A	uc002tem.4	+	9	1190	c.1064_splice	c.e9-1	p.G355_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	355					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|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						AAATAACTTAAATTTTTTTTTCAGGGCACATGTT	0.346													-	109365376	ATTTTTTTTTCAGG	-	109365363	8	5	168	1	0	1	0	1	0	0	1	0	13028	116	4	0		0	RANBP2	2	109365363	Splice_Site	DEL	ATTTTTTTTTCAGG	TCGA-CG-4437-01A-01D-1800-08	3892454	109365363	133834010	78	92154											
MARCO	8685	broad.mit.edu	37	chr2	119735455	119735455	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcgatgggggtctcaTtggcccaaaaggggaaactg	15	8	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:119735455T>A	uc002tln.1	+	8	842	c.710T>A	c.(709-711)ATT>AAT	p.I237N	MARCO_uc010yyf.1_Missense_Mutation_p.I159N	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	237	Collagen-like.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGGGTCTCATTGGCCCAAAA	0.592													A	119735455	T	A	119735455	3	1	168	1	0	0	0	0	1	0	0	0	9311	1493	52	5	740	5	MARCO	2	119735455	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	10370092	119735455	123463918	79	92155											
TMEM177	80775	broad.mit.edu	37	chr2	120439105	120439105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggattctctcactcatGccgtggagtcctggctggac	11	14	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:120439105G>T	uc010flg.1	+	2	1149	c.676G>T	c.(676-678)GCC>TCC	p.A226S	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.A226S|TMEM177_uc002tmd.2_Missense_Mutation_p.A226S|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	226						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					TCTCACTCATGCCGTGGAGTC	0.612													T	120439105	G	T	120439105	3	4	168	1	0	0	0	0	1	0	0	0	16091	1319	46	5	678	5	TMEM177	2	120439105	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	703650	120439105	122760268	80	92156											
GLI2	2736	broad.mit.edu	37	chr2	121736059	121736059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaggagtttgtgtgccGctggcaggcctgcacgcggg	18	9	0	1	rs150170739		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:121736059G>A	uc010flp.2	+	9	1448	c.1418G>A	c.(1417-1419)CGC>CAC	p.R473H	GLI2_uc002tmq.1_Missense_Mutation_p.R145H|GLI2_uc002tmr.1_Missense_Mutation_p.R128H|GLI2_uc002tmt.3_Missense_Mutation_p.R145H|GLI2_uc002tmu.3_Missense_Mutation_p.R128H|GLI2_uc002tmw.1_Missense_Mutation_p.R456H	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	473					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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TTTGTGTGCCGCTGGCAGGCC	0.632													A	121736059	G	A	121736059	3	1	168	1	0	0	0	0	1	0	0	0	6438	1087	38	1	1452	1	GLI2	2	121736059	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1296954	121736059	121463314	81	92157											
GLI2	2736	broad.mit.edu	37	chr2	121747917	121747917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcccagccaccacagcCacaggcctgtcaggacagca	11	17	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:121747917C>G	uc010flp.2	+	13	4457	c.4427C>G	c.(4426-4428)CCA>CGA	p.P1476R	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.P1148R|GLI2_uc002tmu.3_Missense_Mutation_p.P1131R	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1476					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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CCACCACAGCCACAGGCCTGT	0.637													G	121747917	C	G	121747917	3	3	168	1	0	0	0	0	1	0	0	0	6438	594	21	5	4477	5	GLI2	2	121747917	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	11858	121747917	121451456	82	92158											
MYO7B	4648	broad.mit.edu	37	chr2	128351207	128351207	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagcggggaagacaaaAattttcctgagggtgagacc	14	6	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:128351207A>T	uc002top.2	+	18	2285	c.2232A>T	c.(2230-2232)AAA>AAT	p.K744N		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	744						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAAGACAAAAATTTTCCTGA	0.597													T	128351207	A	T	128351207	3	4	168	1	0	0	0	0	1	0	0	0	10083	11	1	5	2298	5	MYO7B	2	128351207	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	6603290	128351207	114848166	83	92159											
SMPD4	55627	broad.mit.edu	37	chr2	130918787	130918787	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtggagggcctggaggctgGgttgggcggggctgtagagg	24	6	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:130918787G>C	uc002tqq.1	-	11	1560	c.1040C>G	c.(1039-1041)CCC>CGC	p.P347R	SMPD4_uc002tqp.1_Missense_Mutation_p.P40R|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.P215R|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Missense_Mutation_p.P61A|SMPD4_uc010zad.1_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	308					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				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGGAGGCTGGGTTGGGCGGG	0.562													C	130918787	G	C	130918787	3	2	168	1	0	0	0	0	1	0	0	0	14807	1232	43	5	1600	5	SMPD4	2	130918787	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2567580	130918787	112280586	84	92160											
THSD7B	80731	broad.mit.edu	37	chr2	137814637	137814637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaagaaattaatccaagcGgaagaactgttctggatttt	8	5	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:137814637G>A	uc002tva.1	+	2	694	c.694G>A	c.(694-696)GGA>AGA	p.G232R	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.G122R	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TAATCCAAGCGGAAGAACTGT	0.393													A	137814637	G	A	137814637	3	1	168	1	0	0	0	0	1	0	0	0	15877	1117	39	1	700	1	THSD7B	2	137814637	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	6895850	137814637	105384736	85	92161											
PRPF40A	55660	broad.mit.edu	37	chr2	153526775	153526775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcatcttctgcaaaagttgGattatccatcagatactgct	6	10	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:153526775G>T	uc002tyh.3	-	15	1622	c.1600C>A	c.(1600-1602)CCA>ACA	p.P534T	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Missense_Mutation_p.P481T	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	561	FF 3.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						GCAAAAGTTGGATTATCCATC	0.368													T	153526775	G	T	153526775	3	4	168	1	0	0	0	0	1	0	0	0	12571	1174	41	5	1240	5	PRPF40A	2	153526775	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	15712138	153526775	89672598	86	92162											
DPP4	1803	broad.mit.edu	37	chr2	162873627	162873627	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaatacctttatcatTcacgctgctgtgtagagtat	8	7	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:162873627T>G	uc002ubz.2	-	17	2020	c.1459A>C	c.(1459-1461)AAT>CAT	p.N487H	DPP4_uc010fpb.2_Missense_Mutation_p.N163H	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	487	Extracellular (Potential).				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			ovary(3)	3					Sitagliptin(DB01261)	CCTTTATCATTCACGCTGCTG	0.348													G	162873627	T	G	162873627	3	3	168	1	0	0	0	0	1	0	0	0	4729	1783	62	5	881	5	DPP4	2	162873627	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	9346852	162873627	80325746	87	92163											
COBLL1	22837	broad.mit.edu	37	chr2	165550830	165550830	+	Frame_Shift_Del	DEL	A	A	-													acaaatttatttacagaatgAgtcttcccttcctctgtgtt							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:165550829_165550829GA>G	uc002ucp.3	-	11	3409	c.3187_3187TC>C	c.(3187-3189)catfs	p.H1063fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.H1025fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.H1130fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.H1071fs|COBLL1_uc002ucn.3_Frame_Shift_Del_p.H491fs|COBLL1_uc002uco.3_Frame_Shift_Del_p.H794fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1101										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						TTTACAGAATGAGTCTTCCCT	0.413													-	165550830	A	-	165550830	7	5	168	1	0	1	0	1	0	0	0	0	3654	291	11	0	326	0	COBLL1	2	165550830	Frame_Shift_Del	DEL	A	TCGA-CG-4437-01A-01D-1800-08	2677203	165550830	77648543	88	92164											
SCN3A	6328	broad.mit.edu	37	chr2	166012305	166012305	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttcccagtagtcttgagtCatgagtcgaaatagagacag	10	7	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:166012305C>T	uc002ucx.2	-	10	1632	c.1140G>A	c.(1138-1140)ATG>ATA	p.M380I	SCN3A_uc002ucy.2_Missense_Mutation_p.M380I|SCN3A_uc002ucz.2_Missense_Mutation_p.M380I|SCN3A_uc002uda.1_Missense_Mutation_p.M249I|SCN3A_uc002udb.1_Missense_Mutation_p.M249I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	380						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AGTCTTGAGTCATGAGTCGAA	0.393													T	166012305	C	T	166012305	3	4	168	1	0	0	0	0	1	0	0	0	13918	826	29	4	4938	4	SCN3A	2	166012305	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	461475	166012305	77187068	89	92165											
SCN1A	6323	broad.mit.edu	37	chr2	166848165	166848165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactctctcctagaacccGctttgtaaaagcaaataaga	5	12	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:166848165G>A	uc010zcz.1	-	26	5605	c.5587C>T	c.(5587-5589)CGG>TGG	p.R1863W		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1874						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTAGAACCCGCTTTGTAAAA	0.473													A	166848165	G	A	166848165	3	1	168	1	0	0	0	0	1	0	0	0	13914	1086	38	1	413	1	SCN1A	2	166848165	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	835860	166848165	76351208	90	92166											
SCN1A	6323	broad.mit.edu	37	chr2	166903444	166903445	+	Frame_Shift_Del	DEL	AT	AT	-													tgagcccaagaaaatgaccaAtacaaaaaatatcatgtacg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:166903443_166903444AAT>A	uc002udo.4	-	10	1440_1441	c.1213_1214ATT>T	c.(1213-1215)ttgfs	p.L405fs	SCN1A_uc010fpk.3_Frame_Shift_Del_p.L405fs|SCN1A_uc021vsb.1_Frame_Shift_Del_p.L405fs	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	405						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)	GAAAATGACCAATACAAAAAAT	0.396													-	166903445	AT	-	166903444	7	5	168	1	0	1	0	1	0	0	0	0	13914	98	4	0	4888	0	SCN1A	2	166903444	Frame_Shift_Del	DEL	AT	TCGA-CG-4437-01A-01D-1800-08	55279	166903444	76295929	91	92167											
KBTBD10	10324	broad.mit.edu	37	chr2	170366566	170366566	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatcatcaaatacctgtactCtgccagtattgatctcaatg	5	10	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:170366566C>G	uc002ueu.1	+	1	355	c.278C>G	c.(277-279)TCT>TGT	p.S93C	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	93	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						TACCTGTACTCTGCCAGTATT	0.393													G	170366566	C	G	170366566	3	3	168	1	0	0	0	0	1	0	0	0	7990	913	32	5	280	5	KBTBD10	2	170366566	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3463122	170366566	72832807	92	92168											
UBR3	130507	broad.mit.edu	37	chr2	170863659	170863659	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatacaagatctcataAaggaagtggaggagctgcag	12	6	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:170863659A>T	uc010zdi.1	+	28	4189	c.4189A>T	c.(4189-4191)AAG>TAG	p.K1397*	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Nonsense_Mutation_p.K218*|UBR3_uc002uft.3_Nonsense_Mutation_p.K250*|UBR3_uc010zdj.1_Nonsense_Mutation_p.K59*	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1397					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						AGATCTCATAAAGGAAGTGGA	0.448													T	170863659	A	T	170863659	4	4	168	1	0	0	0	0	0	1	0	0	16900	15	1	5	4299	5	UBR3	2	170863659	Nonsense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	497093	170863659	72335714	93	92169											
GORASP2	26003	broad.mit.edu	37	chr2	171806141	171806175	+	Frame_Shift_Del	DEL	GCGAGAGACCTCAGTCACACCAAGTAACCTGTGGG	GCGAGAGACCTCAGTCACACCAAGTAACCTGTGGG	-													agcagcaaaacattggaactGcgagagacctcagtcacacc					rs147084049		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:171806140_171806174TGCGAGAGACCTCAGTCACACCAAGTAACCTGTGGG>T	uc002ugk.3	+	2	1051_1085	c.236_270TGCGAGAGACCTCAGTCACACCAAGTAACCTGTGGG>T	c.(235-270)ctgcgagagacctcagtcacaccaagtaacctgtggfs	p.L79fs	GORASP2_uc002ugj.3_Frame_Shift_Del_p.L11fs|GORASP2_uc010zdl.2_Frame_Shift_Del_p.L91fs|GORASP2_uc010zdm.2_Frame_Shift_Del_p.L35fs|GORASP2_uc002ugl.3_Frame_Shift_Del_p.L11fs	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	79						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ACATTGGAACTGCGAGAGACCTCAGTCACACCAAGTAACCTGTGGGGCGGCCAGG	0.447													-	171806175	GCGAGAGACCTCAGTCACACCAAGTAACCTGTGGG	-	171806141	7	5	168	1	0	1	0	1	0	0	0	0	6576	1306	46	0	247	0	GORASP2	2	171806141	Frame_Shift_Del	DEL	GCGAGAGACCTCAGTCACACCAAGTAACCTGTGGG	TCGA-CG-4437-01A-01D-1800-08	942482	171806141	71393232	94	92170											
CYBRD1	79901	broad.mit.edu	37	chr2	172398199	172398199	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgccattcttgcaattatcTctgtggtggccgtgtttgag	11	9	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:172398199T>A	uc002ugy.3	+	2	488	c.298T>A	c.(298-300)TCT>ACT	p.S100T	CYBRD1_uc002ugz.3_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	100	Cytochrome b561.|Helical; Name=3; (Potential).				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						TGCAATTATCTCTGTGGTGGC	0.453													A	172398199	T	A	172398199	3	1	168	1	0	0	0	0	1	0	0	0	4134	1551	54	5	304	5	CYBRD1	2	172398199	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	592058	172398199	70801174	95	92171											
TTN	7273	broad.mit.edu	37	chr2	179414985	179414985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagtattcagggccaaacTctactattggtggaactata	8	8	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:179414985T>C	uc010zfg.1	-	286	84100	c.83876A>G	c.(83875-83877)GAG>GGG	p.E27959G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E21654G|TTN_uc010zfi.1_Missense_Mutation_p.E21587G|TTN_uc010zfj.1_Missense_Mutation_p.E21462G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28886							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGGCCAAACTCTACTATTGG	0.353													C	179414985	T	C	179414985	3	2	168	1	0	0	0	0	1	0	0	0	16732	1551	54	3	16503	3	TTN	2	179414985	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	7016786	179414985	63784388	96	92172											
TTN	7273	broad.mit.edu	37	chr2	179569607	179569607	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacataattctttttacctcTgtctgtgacagtctttgctg	6	9	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:179569607T>A	uc010zfg.1	-	101	26183	c.25959A>T	c.(25957-25959)ACA>ACT	p.T8653T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T5314T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9580							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTACCTCTGTCTGTGACA	0.313													A	179569607	T	A	179569607	2	1	168	1	0	0	0	0	0	0	0	1	16732	1567	55	5		5	TTN	2	179569607	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	154622	179569607	63629766	97	92173											
TTN	7273	broad.mit.edu	37	chr2	179594203	179594203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccaagtgacttcaaacGgaggtgttcccgtaacttca	9	11	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:179594203G>A	uc010zfg.1	-	61	15172	c.14948C>T	c.(14947-14949)CCG>CTG	p.P4983L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1644L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5910							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTCAAACGGAGGTGTTCC	0.443													A	179594203	G	A	179594203	3	1	168	1	0	0	0	0	1	0	0	0	16732	1116	39	1	86045	1	TTN	2	179594203	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	24596	179594203	63605170	98	92174											
PPP1R1C	151242	broad.mit.edu	37	chr2	182850902	182850902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagagtcagattgcacCtgaagcagcagagcaggtat	11	9	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:182850902C>T	uc002uoo.2	+	1	352	c.65C>T	c.(64-66)CCT>CTT	p.P22L	PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Missense_Mutation_p.P22L|PPP1R1C_uc010frm.1_Missense_Mutation_p.P22L|PPP1R1C_uc010frn.1_RNA	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	22					signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CAGATTGCACCTGAAGCAGCA	0.408													T	182850902	C	T	182850902	3	4	168	1	0	0	0	0	1	0	0	0	12369	681	24	4	67	4	PPP1R1C	2	182850902	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3256699	182850902	60348471	99	92175											
DNAJC10	54431	broad.mit.edu	37	chr2	183623585	183623585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttacaatggttggaatagGgatgcttattccctgagaat	11	5	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:183623585G>A	uc002uow.1	+	20	2380	c.1965G>A	c.(1963-1965)AGG>AGA	p.R655R	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.R609R|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	655	Thioredoxin 3.				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			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTTGGAATAGGGATGCTTATT	0.318													A	183623585	G	A	183623585	2	1	168	1	0	0	0	0	0	0	0	1	4629	1223	43	4		4	DNAJC10	2	183623585	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	772683	183623585	59575788	100	92176											
TFPI	7035	broad.mit.edu	37	chr2	188332507	188332507	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatgccctcagacattcttGtttggaagtaaaattgtttt	7	7	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:188332507G>C	uc002upx.2	-	7	814	c.781C>G	c.(781-783)CAA>GAA	p.Q261E	TFPI_uc002upy.2_Missense_Mutation_p.Q261E|TFPI_uc002upz.2_Missense_Mutation_p.Q257E	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	261	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	AGACATTCTTGTTTGGAAGTA	0.343													C	188332507	G	C	188332507	3	2	168	1	0	0	0	0	1	0	0	0	15805	1386	48	5	141	5	TFPI	2	188332507	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4708922	188332507	54866866	101	92177											
DNAH7	56171	broad.mit.edu	37	chr2	196750979	196750979	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccggaccaagtttgtatcGgaagtaggagataattcctg	12	7	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:196750979G>T	uc002utj.3	-	34	5525	c.5424C>A	c.(5422-5424)TCC>TCA	p.S1808S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1808					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGTTTGTATCGGAAGTAGGAG	0.323													T	196750979	G	T	196750979	2	4	168	1	0	0	0	0	0	0	0	1	4606	1103	39	5		5	DNAH7	2	196750979	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	8418472	196750979	46448394	102	92178											
CPO	130749	broad.mit.edu	37	chr2	207820236	207820236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacaaggaagtggtgaCacagcatttcctaggagtga	13	6	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:207820236C>A	uc002vby.2	+	3	261	c.215C>A	c.(214-216)ACA>AAA	p.T72K		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	72					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GAAGTGGTGACACAGCATTTC	0.458													A	207820236	C	A	207820236	3	1	168	1	0	0	0	0	1	0	0	0	3820	478	17	5	225	5	CPO	2	207820236	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	11069257	207820236	35379137	103	92179											
VWC2L	402117	broad.mit.edu	37	chr2	215279274	215279274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacttctgtgaatatcaCgggaaaaattacaaaatctt	5	6	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:215279274C>T	uc002vet.2	+	2	487	c.357C>T	c.(355-357)CAC>CAT	p.H119H	VWC2L_uc010zjl.1_Silent_p.H119H	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	119	VWFC 2.					extracellular region					0						GTGAATATCACGGGAAAAATT	0.368													T	215279274	C	T	215279274	2	4	168	1	0	0	0	0	0	0	0	1	17241	535	19	1		1	VWC2L	2	215279274	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7459038	215279274	27920099	104	92180											
ABCA12	26154	broad.mit.edu	37	chr2	215821416	215821416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtaggagagatacagcGcctaggttgttttcactgta	12	6	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:215821416G>A	uc002vew.2	-	42	6424	c.6204C>T	c.(6202-6204)GGC>GGT	p.G2068G	ABCA12_uc002vev.2_Silent_p.G1750G|ABCA12_uc010zjn.1_Silent_p.G995G	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2068					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		GAGATACAGCGCCTAGGTTGT	0.373													A	215821416	G	A	215821416	2	1	168	1	0	0	0	0	0	0	0	1	30	1074	38	1		1	ABCA12	2	215821416	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	542142	215821416	27377957	105	92181											
ABCA12	26154	broad.mit.edu	37	chr2	215839501	215839501	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagagcaagaaccacttaCagatcactggtgttcagaca	9	9	2	5			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:215839501C>A	uc002vew.2	-	35	5688	c.5468_splice	c.e35+1	p.L1823_splice	ABCA12_uc002vev.2_Splice_Site_p.L1505_splice|ABCA12_uc010zjn.1_Splice_Site_p.L750_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		GAACCACTTACAGATCACTGG	0.333													A	215839501	C	A	215839501	5	1	168	1	0	0	0	0	0	0	1	0	30	492	17	5	2394	5	ABCA12	2	215839501	Splice_Site	SNP	C	TCGA-CG-4437-01A-01D-1800-08	18085	215839501	27359872	106	92182											
FN1	2335	broad.mit.edu	37	chr2	216243985	216243985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtggtgtccactgggcGctcaggcttgtgggtgtgac	18	8	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:216243985G>A	uc002vfa.2	-	34	5756	c.5490C>T	c.(5488-5490)AGC>AGT	p.S1830S	FN1_uc002vfb.2_Silent_p.S1649S|FN1_uc002vfc.2_Silent_p.S1649S|FN1_uc002vfd.2_Silent_p.S1830S|FN1_uc002vfe.2_Silent_p.S1739S|FN1_uc002vff.2_Silent_p.S1739S|FN1_uc002vfg.2_Silent_p.S1649S|FN1_uc002vfh.2_Silent_p.S1649S|FN1_uc002vfi.2_Silent_p.S1830S|FN1_uc002vfj.2_Silent_p.S1740S|FN1_uc002vez.2_Silent_p.S24S|FN1_uc010zjp.1_Silent_p.S367S|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Silent_p.S192S|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	TCCACTGGGCGCTCAGGCTTG	0.512													A	216243985	G	A	216243985	2	1	168	1	0	0	0	0	0	0	0	1	5962	1078	38	1		1	FN1	2	216243985	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	404484	216243985	26955388	107	92183											
XRCC5	7520	broad.mit.edu	37	chr2	216995702	216995704	+	In_Frame_Del	DEL	TCT	TCT	-													ctgttttgggattttgtaaaTcttctcaggtatgattgtga							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:216995701_216995703ATCT>A	uc002vfy.3	+	8	1181_1183	c.1041_1043ATCT>A	c.(1039-1044)aaatct>aaAt	p.S349del	XRCC5_uc002vfz.3_In_Frame_Del_p.S235del	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	349	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GATTTTGTAAATCTTCTCAGGTA	0.33								Non-homologous end-joining					-	216995704	TCT	-	216995702	7	5	168	1	0	1	0	1	0	0	0	0	17453	1435	50	0	1076	0	XRCC5	2	216995702	In_Frame_Del	DEL	TCT	TCGA-CG-4437-01A-01D-1800-08	751717	216995702	26203671	108	92184											
SPEG	10290	broad.mit.edu	37	chr2	220357372	220357372	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggttgcaggacgcctaccTgatgaagctgcgccgccaga	13	12	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:220357372T>A	uc010fwg.2	+	41	9668	c.9668T>A	c.(9667-9669)CTG>CAG	p.L3223Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3223					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		GACGCCTACCTGATGAAGCTG	0.682													A	220357372	T	A	220357372	3	1	168	1	0	0	0	0	1	0	0	0	15035	1580	55	5	9842	5	SPEG	2	220357372	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	3361670	220357372	22842001	109	92185											
CCDC140	151278	broad.mit.edu	37	chr2	223168875	223168875	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcgcggacctgggacTgcagagaggcgttttgaaga	19	7	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:223168875T>A	uc002vnb.1	+	2	638	c.254T>A	c.(253-255)CTG>CAG	p.L85Q		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	85											0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCTGGGACTGCAGAGAGGC	0.632													A	223168875	T	A	223168875	3	1	168	1	0	0	0	0	1	0	0	0	2774	1580	55	5	256	5	CCDC140	2	223168875	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2811503	223168875	20030498	110	92186											
KIAA1486	57624	broad.mit.edu	37	chr2	226447157	226447157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctggtatttccccccGcccccgtgcattgctccccc	8	21	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:226447157G>A	uc002voe.2	+	4	1199	c.1024G>A	c.(1024-1026)GCC>ACC	p.A342T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A112T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	342	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		ATTTCCCCCCGCCCCCGTGCA	0.632													A	226447157	G	A	226447157	3	1	168	1	0	0	0	0	1	0	0	0	8237	1087	38	1	1034	1	KIAA1486	2	226447157	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3278282	226447157	16752216	111	92187											
SLC19A3	80704	broad.mit.edu	37	chr2	228563524	228563524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcgccttgtaatcccAcaggatttgaacatagttca	10	9	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:228563524A>G	uc002vpi.2	-	3	996	c.907T>C	c.(907-909)TGG>CGG	p.W303R	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.W299R	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	303	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		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)	TTGTAATCCCACAGGATTTGA	0.443													G	228563524	A	G	228563524	3	3	168	1	0	0	0	0	1	0	0	0	14430	159	6	3	599	3	SLC19A3	2	228563524	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2116367	228563524	14635849	112	92188											
DNER	92737	broad.mit.edu	37	chr2	230231600	230231600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagccaacctggcatgccgGatggatgcaatggcattgct	12	11	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:230231600G>A	uc002vpv.2	-	12	2238	c.2091C>T	c.(2089-2091)ATC>ATT	p.I697I		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	697	Cytoplasmic (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGCATGCCGGATGGATGCAA	0.542													A	230231600	G	A	230231600	2	1	168	1	0	0	0	0	0	0	0	1	4667	1164	41	4		4	DNER	2	230231600	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1668076	230231600	12967773	113	92189											
ARMC9	80210	broad.mit.edu	37	chr2	232135733	232135733	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactccacgagcgacgtGgtgcggcagtacatggccag	14	13	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:232135733G>C	uc002vrq.3	+	13	1270	c.1158G>C	c.(1156-1158)GTG>GTC	p.V386V	ARMC9_uc002vrp.3_Silent_p.V386V|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	386							binding			ovary(1)	1		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)		CGAGCGACGTGGTGCGGCAGT	0.498													C	232135733	G	C	232135733	2	2	168	1	0	0	0	0	0	0	0	1	958	1335	47	5		5	ARMC9	2	232135733	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1904133	232135733	11063640	114	92190											
EFHD1	80303	broad.mit.edu	37	chr2	233527521	233527521	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctgcaggtatgacgcTgggcgggatggcttcatcga	15	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:233527521T>C	uc002vtc.2	+	2	520	c.312T>C	c.(310-312)GCT>GCC	p.A104A	EFHD1_uc010fyf.2_Silent_p.A8A|EFHD1_uc002vtd.2_5'UTR	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	104	1 (Potential).|EF-hand 1.						calcium ion binding|protein binding				0		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GGTATGACGCTGGGCGGGATG	0.532													C	233527521	T	C	233527521	2	2	168	1	0	0	0	0	0	0	0	1	4948	1567	55	3		3	EFHD1	2	233527521	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1391788	233527521	9671852	115	92191											
ANO7	50636	broad.mit.edu	37	chr2	242157201	242157201	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatccgcttggacgcgcgCaagttcgtctgcgagtaccg	14	12	1	1	rs138830051		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr2:242157201C>A	uc002wax.2	+	20	2338	c.2235C>A	c.(2233-2235)CGC>CGA	p.R745R		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	745	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						TGGACGCGCGCAAGTTCGTCT	0.672													A	242157201	C	A	242157201	2	1	168	1	0	0	0	0	0	0	0	1	702	697	25	5		5	ANO7	2	242157201	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	8629680	242157201	1042172	116	92192											
CNTN4	152330	broad.mit.edu	37	chr3	2924862	2924862	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatgagcccaaaatagaagTgcagttcccagaaacagttc	8	9	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:2924862T>A	uc003bpc.2	+	8	907	c.686T>A	c.(685-687)GTG>GAG	p.V229E	CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Missense_Mutation_p.V229E	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	229	Ig-like C2-type 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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAATAGAAGTGCAGTTCCCA	0.393													A	2924862	T	A	2924862	3	1	168	1	0	0	0	0	1	0	0	0	3643	1696	59	5	708	5	CNTN4	3	2924862	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08		2924862	195097568	117	92193											
HRH1	3269	broad.mit.edu	37	chr3	11301940	11301940	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagtatgtatctgggttgcAcatgaaccgcgaaaggaagg	13	7	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:11301940A>T	uc010hdr.2	+	2	1559	c.1217A>T	c.(1216-1218)CAC>CTC	p.H406L	HRH1_uc010hds.2_Missense_Mutation_p.H406L|HRH1_uc010hdt.2_Missense_Mutation_p.H406L|HRH1_uc003bwb.3_Missense_Mutation_p.H406L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	406	Cytoplasmic (Potential).				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			large_intestine(1)|ovary(1)	2					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)	TCTGGGTTGCACATGAACCGC	0.478													T	11301940	A	T	11301940	3	4	168	1	0	0	0	0	1	0	0	0	7355	159	6	5	1219	5	HRH1	3	11301940	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	8377078	11301940	186720490	118	92194											
IQSEC1	9922	broad.mit.edu	37	chr3	12977448	12977448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctccacccgcagccgCtgctcctgccgctccagcga	10	19	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:12977448C>T	uc003bxt.2	-	3	1119	c.1110G>A	c.(1108-1110)CAG>CAA	p.Q370Q	IQSEC1_uc003bxu.3_Silent_p.Q248Q|IQSEC1_uc011auw.1_Silent_p.Q356Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	370					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CCCGCAGCCGCTGCTCCTGCC	0.687													T	12977448	C	T	12977448	2	4	168	1	0	0	0	0	0	0	0	1	7817	796	28	2		2	IQSEC1	3	12977448	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1675508	12977448	185044982	119	92195											
RBMS3	27303	broad.mit.edu	37	chr3	29323137	29323137	+	Translation_Start_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggggcactataccctgtcatCcagttccctgcctcggagat	10	14	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:29323137C>G	uc003cel.2	+	1	195	c.-35C>G	c.(-37--33)ATCCA>ATGCA		RBMS3_uc003cek.2_Translation_Start_Site|RBMS3_uc010hfq.2_Translation_Start_Site|RBMS3_uc003cem.2_Translation_Start_Site|RBMS3_uc010hfr.2_Translation_Start_Site	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ACCCTGTCATCCAGTTCCCTG	0.512													G	29323137	C	G	29323137	1	3	168	1	0	0	0	0	0	0	0	0	13150	870	30	5		5	RBMS3	3	29323137	Translation_Start_Site	SNP	C	TCGA-CG-4437-01A-01D-1800-08	16345689	29323137	168699293	120	92196											
CNOT10	25904	broad.mit.edu	37	chr3	32804301	32804301	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgccattactcacttgaacCcggagaatgtcactgatgtc	8	11	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:32804301C>G	uc003cfc.1	+	15	2041	c.1786C>G	c.(1786-1788)CCG>GCG	p.P596A	CNOT10_uc011axi.1_Missense_Mutation_p.P368A|CNOT10_uc003cfd.1_Missense_Mutation_p.P595A|CNOT10_uc003cfe.1_Missense_Mutation_p.P569A|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.P656A|CNOT10_uc010hfw.1_Missense_Mutation_p.P291A	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	596					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						TCACTTGAACCCGGAGAATGT	0.413													G	32804301	C	G	32804301	3	3	168	1	0	0	0	0	1	0	0	0	3618	623	22	5	1844	5	CNOT10	3	32804301	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3481164	32804301	165218129	121	92197											
ZNF445	353274	broad.mit.edu	37	chr3	44496716	44496716	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacccaaacccggagctccCcaggcaggatgctcaggaac	11	16	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:44496716C>G	uc003cnf.2	-	3	674	c.326G>C	c.(325-327)GGG>GCG	p.G109A	ZNF445_uc011azv.1_Missense_Mutation_p.G109A|ZNF445_uc011azw.1_Missense_Mutation_p.G109A	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	109	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCGGAGCTCCCCAGGCAGGAT	0.612													G	44496716	C	G	44496716	3	3	168	1	0	0	0	0	1	0	0	0	17915	623	22	5	2793	5	ZNF445	3	44496716	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	11692415	44496716	153525714	122	92198											
GLYCTK	132158	broad.mit.edu	37	chr3	52325000	52325000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgctgaagccacatagCcgtgtccaggtattcgaggg	13	10	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:52325000C>T	uc003ddo.2	+	3	498	c.402C>T	c.(400-402)AGC>AGT	p.S134S	GLYCTK_uc003ddq.2_Silent_p.S134S|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Silent_p.S134S|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	134					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				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)		AGCCACATAGCCGTGTCCAGG	0.612													T	52325000	C	T	52325000	2	4	168	1	0	0	0	0	0	0	0	1	6482	738	26	2		2	GLYCTK	3	52325000	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7828284	52325000	145697430	123	92199											
BAP1	8314	broad.mit.edu	37	chr3	52439202	52439220	+	Frame_Shift_Del	DEL	TGAACCCCATTGAGGCTGC	TGAACCCCATTGAGGCTGC	-													caatgggagtggggttggggTgaaccccattgaggctgctg					rs142887785	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:52439201_52439219GTGAACCCCATTGAGGCTGC>G	uc003ddx.3	-	10	1138_1156	c.1023_1041GCAGCCTCAATGGGGTTCAC>C	c.(1021-1041)agcagcctcaatggggttcacfs	p.S341fs	BAP1_uc003ddw.3_5'Flank|BAP1_uc010hmg.3_5'Flank|BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	341					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	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S341fs*21(2)|p.G340S(1)|p.V335fs*10(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)		TGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAG	0.594			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							-	52439220	TGAACCCCATTGAGGCTGC	-	52439202	7	5	168	1	0	1	0	1	0	0	0	0	1311	1696	59	0	1177	0	BAP1	3	52439202	Frame_Shift_Del	DEL	TGAACCCCATTGAGGCTGC	TCGA-CG-4437-01A-01D-1800-08	114202	52439202	145583228	124	92200											
HESX1	8820	broad.mit.edu	37	chr3	57233803	57233803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatacctgatgagctgcaGgtgtctgcccagggcctgtg	15	11	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:57233803G>A	uc003din.3	-	1	478	c.144C>T	c.(142-144)ACC>ACT	p.T48T		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	48						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		ATGAGCTGCAGGTGTCTGCCC	0.403													A	57233803	G	A	57233803	2	1	168	1	0	0	0	0	0	0	0	1	7072	987	35	4		4	HESX1	3	57233803	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4794601	57233803	140788627	125	92201											
CADPS	8618	broad.mit.edu	37	chr3	62751640	62751640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccggtccttgactgtcTgcagctgctgtttgctgatc	11	11	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:62751640T>G	uc003dll.2	-	2	821	c.461A>C	c.(460-462)CAG>CCG	p.Q154P	CADPS_uc003dlm.2_Missense_Mutation_p.Q154P|CADPS_uc003dln.2_Missense_Mutation_p.Q154P	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	154					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		CTTGACTGTCTGCAGCTGCTG	0.463													G	62751640	T	G	62751640	3	3	168	1	0	0	0	0	1	0	0	0	2570	1580	55	5	3789	5	CADPS	3	62751640	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	5517837	62751640	135270790	126	92202											
ROBO1	6091	broad.mit.edu	37	chr3	78795966	78795966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggtgggctcaggatggcctCgtggaggttggcattccatt	16	8	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:78795966C>A	uc003dqe.2	-	5	792	c.584G>T	c.(583-585)CGA>CTA	p.R195L	ROBO1_uc003dqb.2_Missense_Mutation_p.R156L|ROBO1_uc003dqc.2_Missense_Mutation_p.R156L|ROBO1_uc003dqd.2_Missense_Mutation_p.R156L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	195	Extracellular (Potential).|Ig-like C2-type 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			large_intestine(2)	2		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)		AGGATGGCCTCGTGGAGGTTG	0.453													A	78795966	C	A	78795966	3	1	168	1	0	0	0	0	1	0	0	0	13513	884	31	5	4492	5	ROBO1	3	78795966	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	16044326	78795966	119226464	127	92203											
GABRR3	200959	broad.mit.edu	37	chr3	97711779	97711779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatgactgacaggaacaCaaagagggagctgacccaca	10	11	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:97711779C>G	uc011bgr.1	-	8	1021	c.1021G>C	c.(1021-1023)GTG>CTG	p.V341L		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	341	Helical; (Potential).				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				0						GACAGGAACACAAAGAGGGAG	0.522													G	97711779	C	G	97711779	3	3	168	1	0	0	0	0	1	0	0	0	6178	478	17	5	389	5	GABRR3	3	97711779	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	18915813	97711779	100310651	128	92204											
LNP1	348801	broad.mit.edu	37	chr3	100148706	100148706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgcaagccaccagtcacAggaaaacctccctgccctgc	8	17	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:100148706A>G	uc003dtx.3	+	2	1413	c.133A>G	c.(133-135)AGG>GGG	p.R45G	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	45											0						CACCAGTCACAGGAAAACCTC	0.547													G	100148706	A	G	100148706	3	3	168	1	0	0	0	0	1	0	0	0	8863	179	7	3	135	3	LNP1	3	100148706	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2436927	100148706	97873724	129	92205											
ABI3BP	25890	broad.mit.edu	37	chr3	100645191	100645191	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcgggaagagggaagtActggtttggtgatacattgc	15	5	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:100645191A>C	uc003dun.2	-	2	320	c.235T>G	c.(235-237)TAC>GAC	p.Y79D	ABI3BP_uc003duo.2_Missense_Mutation_p.Y72D|ABI3BP_uc003dup.3_Missense_Mutation_p.Y72D	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	79						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						AGAGGGAAGTACTGGTTTGGT	0.493													C	100645191	A	C	100645191	3	2	168	1	0	0	0	0	1	0	0	0	91	391	14	5	3128	5	ABI3BP	3	100645191	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	496485	100645191	97377239	130	92206											
PHLDB2	90102	broad.mit.edu	37	chr3	111693337	111693337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattatatggtagccccatCgccagaagccatgcggatct	9	12	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:111693337C>T	uc010hqa.2	+	18	4100	c.3689C>T	c.(3688-3690)TCG>TTG	p.S1230L	PHLDB2_uc003dyc.2_Missense_Mutation_p.S1214L|PHLDB2_uc003dyd.2_Missense_Mutation_p.S1187L|PHLDB2_uc003dyg.2_Missense_Mutation_p.S1230L|PHLDB2_uc003dyh.2_Missense_Mutation_p.S1187L|PHLDB2_uc003dyi.2_Missense_Mutation_p.S721L|PHLDB2_uc003dyj.2_Missense_Mutation_p.S285L	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1230	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						GTAGCCCCATCGCCAGAAGCC	0.423													T	111693337	C	T	111693337	3	4	168	1	0	0	0	0	1	0	0	0	11852	893	31	1	3840	1	PHLDB2	3	111693337	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	11048146	111693337	86329093	131	92207											
CCDC80	151887	broad.mit.edu	37	chr3	112349073	112349073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccagatattcatcacgtTgttgcacatacatattgttc	5	9	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:112349073T>C	uc003dzf.2	-	3	2140	c.1922A>G	c.(1921-1923)CAA>CGA	p.Q641R	CCDC80_uc011bhv.1_Missense_Mutation_p.Q641R|CCDC80_uc003dzg.2_Missense_Mutation_p.Q641R|CCDC80_uc003dzh.1_Missense_Mutation_p.Q641R	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	641										ovary(2)	2						TTCATCACGTTGTTGCACATA	0.433													C	112349073	T	C	112349073	3	2	168	1	0	0	0	0	1	0	0	0	2854	1812	63	3	954	3	CCDC80	3	112349073	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	655736	112349073	85673357	132	92208											
KIAA2018	205717	broad.mit.edu	37	chr3	113378877	113378877	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgaagaattataacaTtttgattagttggagctgaa	11	3	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:113378877T>A	uc003eam.2	-	7	2063	c.1652A>T	c.(1651-1653)AAT>ATT	p.N551I	KIAA2018_uc003eal.2_Missense_Mutation_p.N495I	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	551					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AATTATAACATTTTGATTAGT	0.443													A	113378877	T	A	113378877	3	1	168	1	0	0	0	0	1	0	0	0	8268	1493	52	5	5089	5	KIAA2018	3	113378877	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1029804	113378877	84643553	133	92209											
HGD	3081	broad.mit.edu	37	chr3	120365162	120365162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaccatagacctccaAgatgtagcccctggtctcct	9	14	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:120365162A>C	uc003edw.2	-	9	971	c.601T>G	c.(601-603)TTG>GTG	p.L201V	HGD_uc003edv.2_Missense_Mutation_p.L60V	NM_000187	NP_000178	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	201					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding				0				GBM - Glioblastoma multiforme(114;0.158)		TAGACCTCCAAGATGTAGCCC	0.478													C	120365162	A	C	120365162	3	2	168	1	0	0	0	0	1	0	0	0	7084	69	3	5	760	5	HGD	3	120365162	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	6986285	120365162	77657268	134	92210											
STXBP5L	9515	broad.mit.edu	37	chr3	120976161	120976161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctagtgaaggagtaacaaagGacagtattccatgcctcaag	10	8	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:120976161G>T	uc003eec.3	+	17	1953	c.1813G>T	c.(1813-1815)GAC>TAC	p.D605Y	STXBP5L_uc011bji.1_Missense_Mutation_p.D605Y	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	605	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AGTAACAAAGGACAGTATTCC	0.368													T	120976161	G	T	120976161	3	4	168	1	0	0	0	0	1	0	0	0	15356	1174	41	5	1875	5	STXBP5L	3	120976161	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	610999	120976161	77046269	135	92211											
KALRN	8997	broad.mit.edu	37	chr3	124180761	124180761	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attatggctgaactactccaGacagagaaggcttatgtaag	10	7	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:124180761G>C	uc003ehg.2	+	24	4000	c.3873G>C	c.(3871-3873)CAG>CAC	p.Q1291H	KALRN_uc010hrv.1_Missense_Mutation_p.Q1282H|KALRN_uc003ehf.1_Missense_Mutation_p.Q1291H|KALRN_uc011bjy.1_Missense_Mutation_p.Q1282H|KALRN_uc003ehh.1_Missense_Mutation_p.Q637H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1291	DH 1.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AACTACTCCAGACAGAGAAGG	0.413													C	124180761	G	C	124180761	3	2	168	1	0	0	0	0	1	0	0	0	7975	933	33	5	3967	5	KALRN	3	124180761	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3204600	124180761	73841669	136	92212											
KALRN	8997	broad.mit.edu	37	chr3	124437938	124437950	+	Frame_Shift_Del	DEL	CAGACATCTGGAG	CAGACATCTGGAG	-													catccccgtctccctggggaCagacatctggagcatcgggg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:124437937_124437949ACAGACATCTGGAG>A	uc003ehg.3	+	59	8708_8720	c.8581_8593ACAGACATCTGGAG>A	c.(8581-8595)acagacatctggagcfs	p.T2861fs	KALRN_uc003ehk.3_Frame_Shift_Del_p.T1164fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2860	Protein kinase.				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|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase 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						CTCCCTGGGGACAGACATCTGGAGCATCGGGGT	0.545													-	124437950	CAGACATCTGGAG	-	124437938	7	5	168	1	0	1	0	1	0	0	0	0	7975	478	17	0	8976	0	KALRN	3	124437938	Frame_Shift_Del	DEL	CAGACATCTGGAG	TCGA-CG-4437-01A-01D-1800-08	257177	124437938	73584492	137	92213											
CNBP	7555	broad.mit.edu	37	chr3	128890519	128890519	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgccacggcttctcattcCacgaccacggcctccaccag	7	19	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:128890519C>A	uc003elq.3	-	2	288	c.82G>T	c.(82-84)GGA>TGA	p.G28*	CNBP_uc003elr.3_Nonsense_Mutation_p.G28*|CNBP_uc011bku.1_Nonsense_Mutation_p.G28*	NM_003418	NP_003409	P62633	CNBP_HUMAN	zinc finger protein 9 isoform 3	28					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTTCTCATTCCACGACCACGG	0.488													A	128890519	C	A	128890519	4	1	168	1	0	0	0	0	0	1	0	0	3592	603	21	5	473	5	CNBP	3	128890519	Nonsense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4452581	128890519	69131911	138	92214											
MSL2	55167	broad.mit.edu	37	chr3	135871472	135871472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaactgctcatagtctttgCaccagctacaggaaggtttc	8	11	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:135871472C>A	uc003eqx.1	-	2	984	c.251G>T	c.(250-252)TGC>TTC	p.C84F	MSL2_uc011bmb.1_Missense_Mutation_p.C10F	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	84	RING-type.				histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						ATAGTCTTTGCACCAGCTACA	0.423													A	135871472	C	A	135871472	3	1	168	1	0	0	0	0	1	0	0	0	9878	710	25	5	1486	5	MSL2	3	135871472	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6980953	135871472	62150958	139	92215											
PPM1L	151742	broad.mit.edu	37	chr3	160783228	160783228	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctctgctatcagataaagaCctcactgtggccaacgtggg	11	11	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:160783228C>G	uc003fdr.2	+	3	713	c.612C>G	c.(610-612)GAC>GAG	p.D204E	PPM1L_uc003fds.2_Missense_Mutation_p.D25E|PPM1L_uc003fdt.2_Missense_Mutation_p.D77E|PPM1L_uc010hwf.2_RNA	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	204	Cytoplasmic (Potential).|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)	1			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CAGATAAAGACCTCACTGTGG	0.498													G	160783228	C	G	160783228	3	3	168	1	0	0	0	0	1	0	0	0	12344	506	18	5	622	5	PPM1L	3	160783228	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	24911756	160783228	37239202	140	92216											
TNIK	23043	broad.mit.edu	37	chr3	170929005	170929005	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttcttcaacatgttaattTcttgtttgatttcttcctct	3	8	5	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:170929005T>A	uc003fhh.2	-	4	551	c.206A>T	c.(205-207)GAA>GTA	p.E69V	TNIK_uc003fhi.2_Missense_Mutation_p.E69V|TNIK_uc003fhj.2_Missense_Mutation_p.E69V|TNIK_uc003fhk.2_Missense_Mutation_p.E69V|TNIK_uc003fhl.2_Missense_Mutation_p.E69V|TNIK_uc003fhm.2_Missense_Mutation_p.E69V|TNIK_uc003fhn.2_Missense_Mutation_p.E69V|TNIK_uc003fho.2_Missense_Mutation_p.E69V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	69	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	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)			CATGTTAATTTCTTGTTTGAT	0.348													A	170929005	T	A	170929005	3	1	168	1	0	0	0	0	1	0	0	0	16310	1783	62	5	3996	5	TNIK	3	170929005	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	10145777	170929005	27093425	141	92217											
ZNF639	51193	broad.mit.edu	37	chr3	179052209	179052209	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccagtccatgagacaacttGattattctctttaacttaca	4	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:179052209G>C	uc003fjq.1	+	6	1800	c.1457G>C	c.(1456-1458)TGA>TCA	p.*486S	ZNF639_uc003fjr.1_Nonstop_Mutation_p.*486S	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	486					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				0	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)			GAGACAACTTGATTATTCTCT	0.318													C	179052209	G	C	179052209	4	2	168	1	0	0	0	0	0	0	0	0	18053	1285	45	5	1471	5	ZNF639	3	179052209	Nonstop_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	8123204	179052209	18970221	142	92218											
ATP13A5	344905	broad.mit.edu	37	chr3	193052762	193052762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctgcccagagggcTtgacctggataacttctgtt	11	13	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:193052762T>C	uc011bsq.1	-	10	1070	c.1070A>G	c.(1069-1071)AAG>AGG	p.K357R		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	357				K -> E (in Ref. 2; BAC85490).	ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		CCCAGAGGGCTTGACCTGGAT	0.468													C	193052762	T	C	193052762	3	2	168	1	0	0	0	0	1	0	0	0	1127	1609	56	3	2668	3	ATP13A5	3	193052762	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	14000553	193052762	4969668	143	92219											
ACAP2	23527	broad.mit.edu	37	chr3	195016595	195016595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctctccacatattttGctctgatatatgcctccttc	3	13	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:195016595G>A	uc003fun.3	-	17	1755	c.1514C>T	c.(1513-1515)GCA>GTA	p.A505V		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	505	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						CACATATTTTGCTCTGATATA	0.353													A	195016595	G	A	195016595	3	1	168	1	0	0	0	0	1	0	0	0	119	1319	46	2	850	2	ACAP2	3	195016595	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1963833	195016595	3005835	144	92220											
MUC4	4585	broad.mit.edu	37	chr3	195515615	195515615	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgtggagatgtaagccCagtggatgtgatcgatggag	17	4	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:195515615C>G	uc011bto.1	-	2	3296	c.2836G>C	c.(2836-2838)GGG>CGG	p.G946R	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.G828R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	951	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		GATGTAAGCCCAGTGGATGTG	0.567													G	195515615	C	G	195515615	3	3	168	1	0	0	0	0	1	0	0	0	9978	594	21	5		5	MUC4	3	195515615	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	499020	195515615	2506815	145	92221											
PCYT1A	5130	broad.mit.edu	37	chr3	195965617	195965617	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtgcctggagagatttGctggggagcaaggtggggaa	18	6	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:195965617G>C	uc003fwg.2	-	10	1219	c.1046C>G	c.(1045-1047)GCA>GGA	p.A349G	uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Missense_Mutation_p.A349G	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	349						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)	GGAGAGATTTGCTGGGGAGCA	0.577													C	195965617	G	C	195965617	3	2	168	1	0	0	0	0	1	0	0	0	11610	1319	46	5	61	5	PCYT1A	3	195965617	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	450002	195965617	2056813	146	92222											
MFI2	4241	broad.mit.edu	37	chr3	196748317	196748317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcttcacaaaagccaCgtcccctgccccttccgcca	7	19	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr3:196748317C>T	uc003fxk.3	-	6	783	c.670G>A	c.(670-672)GTG>ATG	p.V224M	MFI2_uc003fxl.3_Missense_Mutation_p.V224M|MFI2_uc011bua.1_Silent_p.T196T	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	224	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		ACAAAAGCCACGTCCCCTGCC	0.672													T	196748317	C	T	196748317	3	4	168	1	0	0	0	0	1	0	0	0	9522	536	19	1	1791	1	MFI2	3	196748317	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	782700	196748317	1274113	147	92223											
EVC2	132884	broad.mit.edu	37	chr4	5567010	5567010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcttgcgggcccacaGcatcttttctaatcctctgc	6	15	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:5567010G>A	uc003gij.2	-	21	3688	c.3634C>T	c.(3634-3636)CTG>TTG	p.L1212L	EVC2_uc011bwb.1_Silent_p.L652L|EVC2_uc003gik.2_Silent_p.L1132L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1212						integral to membrane				large_intestine(3)|ovary(2)	5						CGGGCCCACAGCATCTTTTCT	0.562													A	5567010	G	A	5567010	2	1	168	1	0	0	0	0	0	0	0	1	5286	962	34	2		2	EVC2	4	5567010	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08		5567010	185587266	148	92224											
TBC1D1	23216	broad.mit.edu	37	chr4	38138770	38138770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctccaggtggcaaatggtagGatccaaagccttgaggccac	12	11	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:38138770G>C	uc003gtb.2	+	20	3664	c.3321G>C	c.(3319-3321)AGG>AGC	p.R1107S	TBC1D1_uc011byd.1_Missense_Mutation_p.R1098S|TBC1D1_uc010ifd.2_Missense_Mutation_p.R894S|TBC1D1_uc003gtd.2_Missense_Mutation_p.R119S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1107						nucleus	Rab GTPase activator activity			ovary(1)	1						CAAATGGTAGGATCCAAAGCC	0.532													C	38138770	G	C	38138770	3	2	168	1	0	0	0	0	1	0	0	0	15594	1165	41	5	3395	5	TBC1D1	4	38138770	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	32571760	38138770	153015506	149	92225											
ATP10D	57205	broad.mit.edu	37	chr4	47565665	47565665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaagctcttcacaaagcGggcatcaagatctggatgct	10	9	4	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:47565665G>A	uc003gxk.1	+	15	2900	c.2736G>A	c.(2734-2736)GCG>GCA	p.A912A	ATP10D_uc003gxl.1_Silent_p.A160A	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	912	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						TTCACAAAGCGGGCATCAAGA	0.463													A	47565665	G	A	47565665	2	1	168	1	0	0	0	0	0	0	0	1	1118	1103	39	1		1	ATP10D	4	47565665	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	9426895	47565665	143588611	150	92226											
PPEF2	5470	broad.mit.edu	37	chr4	76813023	76813023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgacttggtcttgctgcCcagcatattctatagactgg	9	11	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:76813023C>T	uc003hix.2	-	3	521	c.164G>A	c.(163-165)GGG>GAG	p.G55E	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.G55E	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	55					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			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTCTTGCTGCCCAGCATATTC	0.602													T	76813023	C	T	76813023	3	4	168	1	0	0	0	0	1	0	0	0	12308	623	22	4	2157	4	PPEF2	4	76813023	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	29247358	76813023	114341253	151	92227											
WDFY3	23001	broad.mit.edu	37	chr4	85750257	85750257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctttgaggaaacaagaaaGcccagcaaacatttcgacaa	7	9	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:85750257G>C	uc003hpd.2	-	9	1264	c.856C>G	c.(856-858)CTT>GTT	p.L286V	WDFY3_uc003hpf.2_Missense_Mutation_p.L286V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	286						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAACAAGAAAGCCCAGCAAAC	0.383													C	85750257	G	C	85750257	3	2	168	1	0	0	0	0	1	0	0	0	17267	971	34	5	10007	5	WDFY3	4	85750257	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	8937234	85750257	105404019	152	92228											
PTPN13	5783	broad.mit.edu	37	chr4	87696333	87696333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgtaggttaatgatAcagatgttactaatatgact	8	3	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:87696333A>G	uc003hpz.2	+	34	5998	c.5518A>G	c.(5518-5520)ACA>GCA	p.T1840A	PTPN13_uc003hpy.2_Missense_Mutation_p.T1845A|PTPN13_uc003hqa.2_Missense_Mutation_p.T1821A|PTPN13_uc003hqb.2_Missense_Mutation_p.T1649A|PTPN13_uc003hqc.1_Missense_Mutation_p.T206A	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1840	PDZ 4.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGTTAATGATACAGATGTTAC	0.353													G	87696333	A	G	87696333	3	3	168	1	0	0	0	0	1	0	0	0	12782	391	14	3	5663	3	PTPN13	4	87696333	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1946076	87696333	103457943	153	92229											
MMRN1	22915	broad.mit.edu	37	chr4	90848951	90848951	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctatatgcagaagtgAtgcaaaaaatgactgatcag	8	7	3	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:90848951A>T	uc003hst.2	+	5	1032	c.961A>T	c.(961-963)ATG>TTG	p.M321L	MMRN1_uc010iku.2_Missense_Mutation_p.M287L|MMRN1_uc011cds.1_Missense_Mutation_p.M63L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	321					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCAGAAGTGATGCAAAAAAT	0.244													T	90848951	A	T	90848951	3	4	168	1	0	0	0	0	1	0	0	0	9670	333	12	5	979	5	MMRN1	4	90848951	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	3152618	90848951	100305325	154	92230											
GRID2	2895	broad.mit.edu	37	chr4	94690491	94690491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctggacataaagagcTttgcaggggtcttttgtatc	12	9	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:94690491T>A	uc011cdt.1	+	15	2749	c.2491T>A	c.(2491-2493)TTT>ATT	p.F831I	GRID2_uc011cdu.1_Missense_Mutation_p.F736I	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	831	Helical; (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	CATAAAGAGCTTTGCAGGGGT	0.537													A	94690491	T	A	94690491	3	1	168	1	0	0	0	0	1	0	0	0	6772	1609	56	5	2549	5	GRID2	4	94690491	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	3841540	94690491	96463785	155	92231											
UNC5C	8633	broad.mit.edu	37	chr4	96123976	96123976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagatggccagcttgaggCgcttcgcagccgctttggtg	14	11	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:96123976C>T	uc003htp.1	-	12	2196	c.2042G>A	c.(2041-2043)CGC>CAC	p.R681H	UNC5C_uc010ilc.1_Missense_Mutation_p.R700H	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	681	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGCTTGAGGCGCTTCGCAGC	0.582													T	96123976	C	T	96123976	3	4	168	1	0	0	0	0	1	0	0	0	16990	768	27	1	773	1	UNC5C	4	96123976	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1433485	96123976	95030300	156	92232											
EGF	1950	broad.mit.edu	37	chr4	110897291	110897291	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtggaataacgattgacttCttaactgacaagttgtactg	9	6	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:110897291C>A	uc003hzy.3	+	13	2405	c.1953C>A	c.(1951-1953)TTC>TTA	p.F651L	EGF_uc011cfu.1_Missense_Mutation_p.F609L|EGF_uc011cfv.1_Missense_Mutation_p.F651L	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	651	Extracellular (Potential).|LDL-receptor class B 8.				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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CGATTGACTTCTTAACTGACA	0.463													A	110897291	C	A	110897291	3	1	168	1	0	0	0	0	1	0	0	0	4962	912	32	5	2003	5	EGF	4	110897291	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	14773315	110897291	80256985	157	92233											
ANK2	287	broad.mit.edu	37	chr4	114275081	114275081	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attggttccataaaggacaaAgtaaaggcccttcagaagcg	10	8	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:114275081A>T	uc003ibe.3	+	38	5407	c.5307A>T	c.(5305-5307)AAA>AAT	p.K1769N	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.K1784N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1736					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAAGGACAAAGTAAAGGCCC	0.493													T	114275081	A	T	114275081	3	4	168	1	0	0	0	0	1	0	0	0	621	69	3	5	5522	5	ANK2	4	114275081	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	3377790	114275081	76879195	158	92234											
UGT8	7368	broad.mit.edu	37	chr4	115597140	115597140	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaacctggtcaccctgTcaatcgaactatctattgga	8	11	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:115597140T>A	uc003ibs.2	+	6	1844	c.1322T>A	c.(1321-1323)GTC>GAC	p.V441D	UGT8_uc003ibt.2_Missense_Mutation_p.V441D|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	441					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			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GGTCACCCTGTCAATCGAACT	0.428													A	115597140	T	A	115597140	3	1	168	1	0	0	0	0	1	0	0	0	16962	1667	58	5	1340	5	UGT8	4	115597140	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1322059	115597140	75557136	159	92235											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006297	118006297	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgccaccagcatgtagaAgaaaaccgtggccaaatctt	9	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:118006297A>C	uc003ibv.3	-	1	440	c.253T>G	c.(253-255)TTC>GTC	p.F85V		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	85	Helical; (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						AGCATGTAGAAGAAAACCGTG	0.428													C	118006297	A	C	118006297	3	2	168	1	0	0	0	0	1	0	0	0	16449	72	3	5	860	5	TRAM1L1	4	118006297	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2409157	118006297	73147979	160	92236											
PRDM5	11107	broad.mit.edu	37	chr4	121774656	121774656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgccgtgggttggtagCatccaaaatgtacaaaactt	12	7	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:121774656C>A	uc003idn.2	-	3	467	c.217G>T	c.(217-219)GCT>TCT	p.A73S	PRDM5_uc003ido.2_Missense_Mutation_p.A73S|PRDM5_uc010ine.2_Missense_Mutation_p.A73S|PRDM5_uc010inf.2_Missense_Mutation_p.A73S|PRDM5_uc003idp.1_Missense_Mutation_p.A73S	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	73	SET.				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)|pancreas(1)	2						GGGTTGGTAGCATCCAAAATG	0.448													A	121774656	C	A	121774656	3	1	168	1	0	0	0	0	1	0	0	0	12460	710	25	5	1731	5	PRDM5	4	121774656	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3768359	121774656	69379620	161	92237											
INTU	27152	broad.mit.edu	37	chr4	128628051	128628051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctttagcccccatactaCaccggatgcagtacggaagc	10	13	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:128628051C>T	uc003ifk.1	+	12	2268	c.2198C>T	c.(2197-2199)ACA>ATA	p.T733I	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	733										ovary(1)	1						CCCCATACTACACCGGATGCA	0.458													T	128628051	C	T	128628051	3	4	168	1	0	0	0	0	1	0	0	0	7786	478	17	4	2244	4	INTU	4	128628051	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6853395	128628051	62526225	162	92238											
C4orf33	132321	broad.mit.edu	37	chr4	130030807	130030807	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtacctcagcatgaactgcaGcaaggacaaaaacctgattt	8	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:130030807G>C	uc003igu.3	+	5	838	c.474G>C	c.(472-474)CAG>CAC	p.Q158H	C4orf33_uc010ioc.1_Missense_Mutation_p.Q158H|C4orf33_uc010iod.2_Missense_Mutation_p.Q158H	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	158										upper_aerodigestive_tract(1)	1						ATGAACTGCAGCAAGGACAAA	0.338													C	130030807	G	C	130030807	3	2	168	1	0	0	0	0	1	0	0	0	2263	962	34	5	488	5	C4orf33	4	130030807	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1402756	130030807	61123469	163	92239											
HHIP	64399	broad.mit.edu	37	chr4	145655992	145655992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggctactgcacccccacGggaaagtgctgctgcagtcc	11	15	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:145655992G>A	uc003ijs.1	+	12	2515	c.1860G>A	c.(1858-1860)ACG>ACA	p.T620T		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	620	EGF-like 1.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCACCCCCACGGGAAAGTGCT	0.537													A	145655992	G	A	145655992	2	1	168	1	0	0	0	0	0	0	0	1	7092	1103	39	1		1	HHIP	4	145655992	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	15625185	145655992	45498284	164	92240											
DCHS2	54798	broad.mit.edu	37	chr4	155237055	155237055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggatgaagaaagtgctGgtgtgccatcatccagtgcc	13	9	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:155237055G>A	uc003inw.2	-	15	3740	c.3740C>T	c.(3739-3741)CCA>CTA	p.P1247L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1247	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGAAAGTGCTGGTGTGCCATC	0.408													A	155237055	G	A	155237055	3	1	168	1	0	0	0	0	1	0	0	0	4288	1348	47	4	5054	4	DCHS2	4	155237055	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	9581063	155237055	35917221	165	92241											
DCHS2	54798	broad.mit.edu	37	chr4	155241793	155241793	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatcagatgctgttacTgtcaggatgacagttggaat	12	7	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:155241793T>A	uc003inw.2	-	14	3393	c.3393A>T	c.(3391-3393)ACA>ACT	p.T1131T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1131	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGCTGTTACTGTCAGGATGA	0.478													A	155241793	T	A	155241793	2	1	168	1	0	0	0	0	0	0	0	1	4288	1567	55	5		5	DCHS2	4	155241793	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	4738	155241793	35912483	166	92242											
NEK1	4750	broad.mit.edu	37	chr4	170508717	170508717	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacttctacttacagcatgtTtaagtgtacacagctcataa	5	9	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:170508717T>A	uc003isb.1	-	8	1091	c.599A>T	c.(598-600)AAA>ATA	p.K200I	NEK1_uc003isc.1_Missense_Mutation_p.K200I|NEK1_uc003isd.1_Missense_Mutation_p.K200I|NEK1_uc003ise.1_Missense_Mutation_p.K200I|NEK1_uc003isf.1_Missense_Mutation_p.K200I|NEK1_uc003isg.1_Missense_Mutation_p.K121I	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	200	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		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)		TACAGCATGTTTAAGTGTACA	0.289													A	170508717	T	A	170508717	3	1	168	1	0	0	0	0	1	0	0	0	10321	1841	64	5	3285	5	NEK1	4	170508717	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	15266924	170508717	20645559	167	92243											
CLCN3	1182	broad.mit.edu	37	chr4	170557218	170557218	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgaagatgacaatttaTtagatggtgacactgcagtt	9	6	1	5			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr4:170557218T>C	uc003isi.2	+	2	648	c.139T>C	c.(139-141)TTA>CTA	p.L47L	CLCN3_uc003ish.2_Silent_p.L47L|CLCN3_uc011cjz.1_5'UTR|CLCN3_uc011cka.1_Silent_p.L47L	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	47	Cytoplasmic (By similarity).				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(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGACAATTTATTAGATGGTGA	0.343													C	170557218	T	C	170557218	2	2	168	1	0	0	0	0	0	0	0	1	3464	1490	52	3		3	CLCN3	4	170557218	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	48501	170557218	20597058	168	92244											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239336	5239336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtgtaacgggaataacTcagcctgcacgattcacagg	13	9	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:5239336T>C	uc003jdl.2	+	15	2365	c.2227T>C	c.(2227-2229)TCA>CCA	p.S743P	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S743P|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	743	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGGGAATAACTCAGCCTGCAC	0.512													C	5239336	T	C	5239336	3	2	168	1	0	0	0	0	1	0	0	0	261	1551	54	3	2285	3	ADAMTS16	5	5239336	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08		5239336	175675924	169	92245											
KIAA0947	23379	broad.mit.edu	37	chr5	5462216	5462216	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggctgctgtgaaaagCatttcaccagaagtttctgc	12	8	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:5462216C>G	uc003jdm.3	+	13	2991	c.2769C>G	c.(2767-2769)AGC>AGG	p.S923R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	923										ovary(1)|central_nervous_system(1)	2						CTGTGAAAAGCATTTCACCAG	0.393													G	5462216	C	G	5462216	3	3	168	1	0	0	0	0	1	0	0	0	8202	709	25	5	2819	5	KIAA0947	5	5462216	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	222880	5462216	175453044	170	92246											
CDH9	1007	broad.mit.edu	37	chr5	26881298	26881298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcggcaagttttttgaaacGaggcccccagtcactgaggt	11	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:26881298G>A	uc003jgs.1	-	12	2486	c.2317C>T	c.(2317-2319)CGT>TGT	p.R773C	CDH9_uc011cnv.1_Missense_Mutation_p.R366C	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	773	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTTTTGAAACGAGGCCCCCAG	0.408													A	26881298	G	A	26881298	3	1	168	1	0	0	0	0	1	0	0	0	3117	1058	37	1	56	1	CDH9	5	26881298	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	21419082	26881298	154033962	171	92247											
ZFR	51663	broad.mit.edu	37	chr5	32420129	32420129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcagtaactgtgtgagCagctactggagcctgatgga	15	8	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:32420129C>A	uc003jhr.1	-	3	297	c.217G>T	c.(217-219)GCT>TCT	p.A73S	ZFR_uc010iun.1_Missense_Mutation_p.A73S	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	73	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		ACTGTGTGAGCAGCTACTGGA	0.542													A	32420129	C	A	32420129	3	1	168	1	0	0	0	0	1	0	0	0	17656	710	25	5	3079	5	ZFR	5	32420129	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	5538831	32420129	148495131	172	92248											
MAST4	375449	broad.mit.edu	37	chr5	66460529	66460529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagggcctctgtgccacCagttctccccagcagcagtg	12	15	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:66460529C>T	uc003jut.1	+	28	5023	c.4955C>T	c.(4954-4956)CCA>CTA	p.P1652L	MAST4_uc003juw.2_Missense_Mutation_p.P1580L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1844						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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)		TCTGTGCCACCAGTTCTCCCC	0.562													T	66460529	C	T	66460529	3	4	168	1	0	0	0	0	1	0	0	0	9327	594	21	4	5766	4	MAST4	5	66460529	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	34040400	66460529	114454731	173	92249											
PDE8B	8622	broad.mit.edu	37	chr5	76721718	76721718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagacatgtttgatgcttggGatggtaagacagttactgtt	12	5	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:76721718G>A	uc003kfa.2	+	21	2590	c.2545G>A	c.(2545-2547)GAT>AAT	p.D849N	PDE8B_uc003kfb.2_Missense_Mutation_p.D829N|PDE8B_uc003kfc.2_Missense_Mutation_p.D794N|PDE8B_uc003kfd.2_Missense_Mutation_p.D802N|PDE8B_uc003kfe.2_Missense_Mutation_p.D752N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	849	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				0		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)		TGATGCTTGGGATGGTAAGAC	0.388													A	76721718	G	A	76721718	3	1	168	1	0	0	0	0	1	0	0	0	11654	1174	41	4	2627	4	PDE8B	5	76721718	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	10261189	76721718	104193542	174	92250											
GPR98	84059	broad.mit.edu	37	chr5	90008210	90008210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgattttaacaaatcCttctcctggactagagctag	7	10	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:90008210C>T	uc003kju.2	+	42	9245	c.9149C>T	c.(9148-9150)CCT>CTT	p.P3050L	GPR98_uc003kjt.2_Missense_Mutation_p.P756L|GPR98_uc003kjv.2_Missense_Mutation_p.P650L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3050	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TTAACAAATCCTTCTCCTGGA	0.348													T	90008210	C	T	90008210	3	4	168	1	0	0	0	0	1	0	0	0	6721	681	24	4	9315	4	GPR98	5	90008210	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	13286492	90008210	90907050	175	92251											
ELL2	22936	broad.mit.edu	37	chr5	95242421	95242421	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggttcatgggggttgAccttttcctctcaggaactg	13	9	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:95242421A>C	uc003klr.3	-	5	897	c.547T>G	c.(547-549)TCA>GCA	p.S183A		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	183					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		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)		ATGGGGGTTGACCTTTTCCTC	0.458													C	95242421	A	C	95242421	3	2	168	1	0	0	0	0	1	0	0	0	5063	275	10	5	1407	5	ELL2	5	95242421	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	5234211	95242421	85672839	176	92252											
SRP19	6728	broad.mit.edu	37	chr5	112228333	112228333	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caagaggaaaacactgcaacTttcttcatgtgttcagaaat	7	8	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:112228333T>A	uc011cvv.1	+	4	1327	c.1072T>A	c.(1072-1074)TTT>ATT	p.F358I	SRP19_uc011cvu.1_Missense_Mutation_p.F343I|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ACACTGCAACTTTCTTCATGT	0.428													A	112228333	T	A	112228333	3	1	168	1	0	0	0	0	1	0	0	0	15153	1624	56	5		5	SRP19	5	112228333	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	16985912	112228333	68686927	177	92253											
TGFBI	7045	broad.mit.edu	37	chr5	135382059	135382059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttacgagaccctgggaGtcgttggatccaccaccact	9	14	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:135382059G>A	uc003lbf.3	+	4	495	c.334G>A	c.(334-336)GTC>ATC	p.V112I	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_5'UTR|TGFBI_uc011cyb.1_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	112	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCCTGGGAGTCGTTGGATC	0.612													A	135382059	G	A	135382059	3	1	168	1	0	0	0	0	1	0	0	0	15817	1029	36	4	348	4	TGFBI	5	135382059	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	23153726	135382059	45533201	178	92254											
TGFBI	7045	broad.mit.edu	37	chr5	135396544	135396544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatgtggtgagtgtcAacaaggagcctgttgccgag	13	7	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:135396544A>C	uc003lbf.3	+	14	1986	c.1825A>C	c.(1825-1827)AAC>CAC	p.N609H	TGFBI_uc003lbg.3_Missense_Mutation_p.N342H|TGFBI_uc003lbh.3_Missense_Mutation_p.N435H|TGFBI_uc011cyb.1_Missense_Mutation_p.N435H|TGFBI_uc010jed.2_Missense_Mutation_p.N342H|TGFBI_uc010jee.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	609	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(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGAGTGTCAACAAGGAGCC	0.388													C	135396544	A	C	135396544	3	2	168	1	0	0	0	0	1	0	0	0	15817	130	5	5	1879	5	TGFBI	5	135396544	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	14485	135396544	45518716	179	92255											
PCDHAC2	56134	broad.mit.edu	37	chr5	140167654	140167677	+	In_Frame_Del	DEL	GGTGCGCGCAGTGGACGCCGACTC	GGTGCGCGCAGTGGACGCCGACTC	-													gcgggtcatgtggtggcgaaGgtgcgcgcagtggacgccga							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:140167653_140167676AGGTGCGCGCAGTGGACGCCGACTC>A	uc003lhb.2	+	0	1778_1801	c.1778_1801AGGTGCGCGCAGTGGACGCCGACTC>A	c.(1777-1803)aaggtgcgcgcagtggacgccgactcg>aAcg	p.593_601KVRAVDADS>N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_In_Frame_Del_p.593_601KVRAVDADS>N	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	606					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R595C(2)|p.R596Q(1)		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)			GTGGTGGCGAAGGTGCGCGCAGTGGACGCCGACTCGGGCTACAA	0.683													-	140167677	GGTGCGCGCAGTGGACGCCGACTC	-	140167654	7	5	168	1	0	1	0	1	0	0	0	0	11533	991	35	0		0	PCDHAC2	5	140167654	In_Frame_Del	DEL	GGTGCGCGCAGTGGACGCCGACTC	TCGA-CG-4437-01A-01D-1800-08	4771110	140167654	40747606	180	92256											
PCDHA8	56140	broad.mit.edu	37	chr5	140222821	140222821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccactcgtgtcctggacGaagcggactctccgcgccac	11	17	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:140222821G>A	uc003lhs.2	+	1	1915	c.1915G>A	c.(1915-1917)GAA>AAA	p.E639K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.E639K	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	639	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.647													A	140222821	G	A	140222821	3	1	168	1	0	0	0	0	1	0	0	0	11530	1059	37	1	1917	1	PCDHA8	5	140222821	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	55167	140222821	40692439	181	92257											
PCDHA11	56138	broad.mit.edu	37	chr5	140250586	140250586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcgagataagcacaaCgcgtgccctggacgaggcag	15	12	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:140250586C>T	uc003lia.2	+	1	2756	c.1898C>T	c.(1897-1899)ACG>ATG	p.T633M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T633M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	633	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGCACAACGCGTGCCCTG	0.662													T	140250586	C	T	140250586	3	4	168	1	0	0	0	0	1	0	0	0	11521	536	19	1	1900	1	PCDHA11	5	140250586	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	27765	140250586	40664674	182	92258											
PCDHB1	29930	broad.mit.edu	37	chr5	140432602	140432602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaatgggaagctctacgCgctgagaaccatggattatg	13	8	1	1	rs116101801	by1000genomes	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:140432602C>T	uc003lik.1	+	1	1624	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	516	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTCTACGCGCTGAGAACC	0.428													T	140432602	C	T	140432602	3	4	168	1	0	0	0	0	1	0	0	0	11534	768	27	1	1549	1	PCDHB1	5	140432602	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	182016	140432602	40482658	183	92259											
PCDHB3	56132	broad.mit.edu	37	chr5	140482191	140482191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatggcgagcctccgcgctCggccaccgccacgctgcatg	12	18	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:140482191C>T	uc003lio.2	+	1	1958	c.1958C>T	c.(1957-1959)TCG>TTG	p.S653L	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	653	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.706													T	140482191	C	T	140482191	3	4	168	1	0	0	0	0	1	0	0	0	11543	893	31	1	1960	1	PCDHB3	5	140482191	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	49589	140482191	40433069	184	92260											
PCDHB11	56125	broad.mit.edu	37	chr5	140581647	140581647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatgaattcaagttccTaaaaccggttatccctaata	5	9	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:140581647T>C	uc003liy.2	+	1	2300	c.2300T>C	c.(2299-2301)CTA>CCA	p.L767P	PCDHB11_uc011daj.1_Missense_Mutation_p.L402P	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	767	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAAGTTCCTAAAACCGGTT	0.463													C	140581647	T	C	140581647	3	2	168	1	0	0	0	0	1	0	0	0	11536	1522	53	3	2302	3	PCDHB11	5	140581647	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	99456	140581647	40333613	185	92261											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731731	140731731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgacagggacgcggcccGccagcgcctgctggtcgctg	18	15	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:140731731G>A	uc003ljo.1	+	1	1904	c.1904G>A	c.(1903-1905)CGC>CAC	p.R635H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.R635H	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	635	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGCCCGCCAGCGCCTG	0.687													A	140731731	G	A	140731731	3	1	168	1	0	0	0	0	1	0	0	0	11562	1087	38	1	1906	1	PCDHGB1	5	140731731	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	150084	140731731	40183529	186	92262											
FGF1	2246	broad.mit.edu	37	chr5	141974992	141974992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcttcttggatatataggTgttgtaatggttctcctcca	9	7	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:141974992T>G	uc003lmm.2	-	4	411	c.331A>C	c.(331-333)ACC>CCC	p.T111P	FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Missense_Mutation_p.T111P|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Missense_Mutation_p.T111P|FGF1_uc010jgj.2_Missense_Mutation_p.T110P|FGF1_uc003lmr.2_Missense_Mutation_p.T111P|FGF1_uc003lms.3_Missense_Mutation_p.T111P	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic) isoform 1	111					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	GATATATAGGTGTTGTAATGG	0.443													G	141974992	T	G	141974992	3	3	168	1	0	0	0	0	1	0	0	0	5838	1696	59	5	140	5	FGF1	5	141974992	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1243261	141974992	38940268	187	92263											
FAT2	2196	broad.mit.edu	37	chr5	150945266	150945266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgatgctgaaggctgcgagtCcagtgccagcacgcaggaag	15	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:150945266C>A	uc003lue.3	-	1	3240	c.3227G>T	c.(3226-3228)GGA>GTA	p.G1076V	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.G1076V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1076	Cadherin 9.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGCGAGTCCAGTGCCAGC	0.587													A	150945266	C	A	150945266	3	1	168	1	0	0	0	0	1	0	0	0	5690	855	30	5	9914	5	FAT2	5	150945266	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	8970274	150945266	29969994	188	92264											
C5orf54	63920	broad.mit.edu	37	chr5	159821852	159821852	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagattgaacacatctattcCtttcatggatagctgcaatg	8	8	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:159821852C>A	uc003lye.1	-	2	1110	c.646G>T	c.(646-648)GGA>TGA	p.G216*	C5orf54_uc003lyf.1_Nonsense_Mutation_p.G216*	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	216										pancreas(1)	1						acatctattcctttcatggat	0													A	159821852	C	A	159821852	4	1	168	1	0	0	0	0	0	1	0	0	2310	690	24	5	1142	5	C5orf54	5	159821852	Nonsense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	8876586	159821852	21093408	189	92265											
ATP10B	23120	broad.mit.edu	37	chr5	160061518	160061518	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cattgaatggataaatcggtCtcttcatcatacaggtcaag	8	8	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:160061518C>G	uc003lym.1	-	12	2071	c.1224G>C	c.(1222-1224)GAG>GAC	p.E408D	ATP10B_uc003lyp.2_Missense_Mutation_p.E408D|ATP10B_uc011deg.1_Missense_Mutation_p.E452D|ATP10B_uc003lyn.2_5'UTR|ATP10B_uc003lyo.2_Missense_Mutation_p.E380D	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	408	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			ATAAATCGGTCTCTTCATCAT	0.493													G	160061518	C	G	160061518	3	3	168	1	0	0	0	0	1	0	0	0	1117	912	32	5	3221	5	ATP10B	5	160061518	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	239666	160061518	20853742	190	92266											
C5orf41	153222	broad.mit.edu	37	chr5	172513607	172513607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttagcaaacagttcggAtccagatttcatgtatgaac	7	9	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:172513607A>G	uc003mch.2	+	3	417	c.113A>G	c.(112-114)GAT>GGT	p.D38G	C5orf41_uc003mcg.2_Missense_Mutation_p.D38G|C5orf41_uc003mcf.2_Missense_Mutation_p.D38G|C5orf41_uc011dfd.1_Missense_Mutation_p.D38G	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	38							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACAGTTCGGATCCAGATTTC	0.418													G	172513607	A	G	172513607	3	3	168	1	0	0	0	0	1	0	0	0	2300	333	12	3	119	3	C5orf41	5	172513607	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	12452089	172513607	8401653	191	92267											
DBN1	1627	broad.mit.edu	37	chr5	176894295	176894295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctctcggttaatccgcttCatttccacagctgcatccgt	7	14	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:176894295C>G	uc003mgy.2	-	6	688	c.516G>C	c.(514-516)ATG>ATC	p.M172I	DBN1_uc003mgx.2_Missense_Mutation_p.M174I|DBN1_uc010jkn.1_Missense_Mutation_p.M122I|DBN1_uc003mgz.1_Missense_Mutation_p.M109I	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	172					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	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)			TAATCCGCTTCATTTCCACAG	0.602													G	176894295	C	G	176894295	3	3	168	1	0	0	0	0	1	0	0	0	4252	826	29	5	1469	5	DBN1	5	176894295	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4380688	176894295	4020965	192	92268											
NHP2	55651	broad.mit.edu	37	chr5	177580502	177580502	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggttcttaccctttttctcCtttgttgacaaatttctgaa	5	9	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:177580502C>G	uc003mir.2	-	2	363	c.220G>C	c.(220-222)GGA>CGA	p.G74R	NHP2_uc003mis.2_Missense_Mutation_p.G74R	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	74					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						CCTTTTTCTCCTTTGTTGACA	0.483													G	177580502	C	G	177580502	3	3	168	1	0	0	0	0	1	0	0	0	10409	690	24	5	253	5	NHP2	5	177580502	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	686207	177580502	3334758	193	92269											
ADAMTS2	9509	broad.mit.edu	37	chr5	178634644	178634644	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgcctgcgtgccctccgcCtcgagctgttggcgtgctcc	12	17	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:178634644C>G	uc003mjw.2	-	4	761	c.761G>C	c.(760-762)AGG>ACG	p.R254T	ADAMTS2_uc011dgm.1_Missense_Mutation_p.R254T	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	254					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		TGCCCTCCGCCTCGAGCTGTT	0.652													G	178634644	C	G	178634644	3	3	168	1	0	0	0	0	1	0	0	0	265	681	24	5	3025	5	ADAMTS2	5	178634644	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1054142	178634644	2280616	194	92270											
FLT4	2324	broad.mit.edu	37	chr5	180057790	180057790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagcccactcgaggggGtgctgtcccctggcagagga	16	13	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:180057790G>A	uc003mma.3	-	3	244	c.165C>T	c.(163-165)CAC>CAT	p.H55H	FLT4_uc003mlz.3_Silent_p.H55H|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.H55H|FLT4_uc011dgz.1_Silent_p.H55H|FLT4_uc011dha.1_Silent_p.H55H	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	55	Ig-like C2-type 1.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	ACTCGAGGGGGTGCTGTCCCC	0.692									Congenital_Hereditary_Lymphedema				A	180057790	G	A	180057790	2	1	168	1	0	0	0	0	0	0	0	1	5944	1252	44	4		4	FLT4	5	180057790	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1423146	180057790	857470	195	92271											
MGAT1	4245	broad.mit.edu	37	chr5	180219900	180219900	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtccagaagaagaggagCagcagggcattccaggccac	14	12	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr5:180219900C>G	uc003mmg.3	-	2	567	c.72G>C	c.(70-72)CTG>CTC	p.L24L	MGAT1_uc010jlf.2_Silent_p.L24L|MGAT1_uc010jlg.2_Silent_p.L24L|MGAT1_uc003mmh.3_Silent_p.L24L|MGAT1_uc010jlh.2_Silent_p.L24L|MGAT1_uc003mmi.3_Silent_p.L24L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	24	Helical; Signal-anchor for type II membrane protein; (Potential).				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			ovary(1)	1	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)			AGAAGAGGAGCAGCAGGGCAT	0.667													G	180219900	C	G	180219900	2	3	168	1	0	0	0	0	0	0	0	1	9542	697	25	5		5	MGAT1	5	180219900	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	162110	180219900	695360	196	92272											
TUBB2A	7280	broad.mit.edu	37	chr6	3154817	3154817	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggaagcagatgtcatacagGgcctcgttatcaatggagta	12	8	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:3154817G>C	uc003mvc.2	-	4	704	c.618C>G	c.(616-618)GCC>GCG	p.A206A	TUBB2A_uc003mvb.2_Silent_p.A199A|TUBB2A_uc003mvd.2_Silent_p.A169A	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	206					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGTCATACAGGGCCTCGTTAT	0.597													C	3154817	G	C	3154817	2	2	168	1	0	0	0	0	0	0	0	1	16751	1219	43	5		5	TUBB2A	6	3154817	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08		3154817	167960250	197	92273											
HIVEP1	3096	broad.mit.edu	37	chr6	12125636	12125636	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccacatcattaactcttAcagttcgaagttcacctgct	4	13	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:12125636A>C	uc003nac.2	+	4	5787	c.5608A>C	c.(5608-5610)ACA>CCA	p.T1870P	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1870					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTAACTCTTACAGTTCGAAG	0.348													C	12125636	A	C	12125636	3	2	168	1	0	0	0	0	1	0	0	0	7186	391	14	5	5618	5	HIVEP1	6	12125636	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	8970819	12125636	158989431	198	92274											
TPMT	7172	broad.mit.edu	37	chr6	18149277	18149277	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacccacttgtcttgccattCttccagagttagtacttggt	7	12	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:18149277C>G	uc003ncm.2	-	2	237	c.82G>C	c.(82-84)GAA>CAA	p.E28Q	TPMT_uc010jpm.1_Missense_Mutation_p.E28Q	NM_000367	NP_000358	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	28					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	TCTTGCCATTCTTCCAGAGTT	0.388													G	18149277	C	G	18149277	3	3	168	1	0	0	0	0	1	0	0	0	16406	922	32	5	687	5	TPMT	6	18149277	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6023641	18149277	152965790	199	92275											
DCDC2	51473	broad.mit.edu	37	chr6	24289091	24289091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatacttacactccctttagActttctggatcctacaatag	5	11	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:24289091A>G	uc003ndx.2	-	6	1050	c.748T>C	c.(748-750)TCT>CCT	p.S250P	DCDC2_uc003ndy.2_Missense_Mutation_p.S250P	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	250					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				CTCCCTTTAGACTTTCTGGAT	0.343													G	24289091	A	G	24289091	3	3	168	1	0	0	0	0	1	0	0	0	4285	275	10	3	702	3	DCDC2	6	24289091	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	6139814	24289091	146825976	200	92276											
SLC17A4	10050	broad.mit.edu	37	chr6	25769239	25769239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcagtccgacatgggctgGccctcatcttgcagctctgt	11	13	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:25769239G>T	uc003nfe.2	+	3	237	c.118G>T	c.(118-120)GCC>TCC	p.A40S	SLC17A4_uc011djx.1_Missense_Mutation_p.A40S|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	40					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						ACATGGGCTGGCCCTCATCTT	0.463													T	25769239	G	T	25769239	3	4	168	1	0	0	0	0	1	0	0	0	14419	1203	42	5	124	5	SLC17A4	6	25769239	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1480148	25769239	145345828	201	92277											
SLC17A2	10246	broad.mit.edu	37	chr6	25916075	25916075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcagcagcaataaaagGcagggaggacagaactccac	12	10	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:25916075G>A	uc011dkb.1	-	8	1035	c.952C>T	c.(952-954)CCT>TCT	p.P318S	SLC17A2_uc011dkc.1_Missense_Mutation_p.P318S|SLC17A2_uc003nfl.2_Missense_Mutation_p.P318S			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	318	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GCAATAAAAGGCAGGGAGGAC	0.428													A	25916075	G	A	25916075	3	1	168	1	0	0	0	0	1	0	0	0	14417	1203	42	2	370	2	SLC17A2	6	25916075	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	146836	25916075	145198992	202	92278											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858481	27858481	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaccgccagtcgctggAgcgcttttgcgcgctgcctt	11	15	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:27858481A>C	uc003nka.2	-	1	90	c.90T>G	c.(88-90)GCT>GCG	p.A30A	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_003526	P68431	H31_HUMAN	histone cluster 1, H3j	30					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CAGTCGCTGGAGCGCTTTTGC	0.632													C	27858481	A	C	27858481	2	2	168	1	0	0	0	0	0	0	0	1	7164	291	11	5		5	HIST1H3J	6	27858481	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1942406	27858481	143256586	203	92279											
GPX6	257202	broad.mit.edu	37	chr6	28472173	28472173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggactccatcgggccccaCcagaaatttctcaaagttcc	8	14	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:28472173C>T	uc011dlj.1	-	6	612	c.562G>A	c.(562-564)GTG>ATG	p.V188M	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	188					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	TCGGGCCCCACCAGAAATTTC	0.527													T	28472173	C	T	28472173	3	4	168	1	0	0	0	0	1	0	0	0	6744	507	18	4	107	4	GPX6	6	28472173	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	613692	28472173	142642894	204	92280											
TRIM40	135644	broad.mit.edu	37	chr6	30114861	30114861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccctcagcagtggctgggcCagctggagcacatgccagca	13	14	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:30114861C>G	uc003npk.2	+	4	927	c.541C>G	c.(541-543)CAG>GAG	p.Q181E	TRIM40_uc003npm.2_Missense_Mutation_p.Q152E	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	tripartite motif-containing 40	181						intracellular	zinc ion binding			ovary(1)	1						GTGGCTGGGCCAGCTGGAGCA	0.607													G	30114861	C	G	30114861	3	3	168	1	0	0	0	0	1	0	0	0	16512	595	21	5	464	5	TRIM40	6	30114861	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1642688	30114861	141000206	205	92281											
TNXB	7148	broad.mit.edu	37	chr6	32065796	32065796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttccactgtgtgctcGtaaagctgagaagaggggct	12	11	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:32065796G>A	uc003nzl.2	-	2	382	c.180C>T	c.(178-180)TAC>TAT	p.Y60Y	TNXB_uc010jts.1_Silent_p.Y59Y|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	60					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGTGTGCTCGTAAAGCTGAG	0.657													A	32065796	G	A	32065796	2	1	168	1	0	0	0	0	0	0	0	1	16343	1140	40	1		1	TNXB	6	32065796	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1950935	32065796	139049271	206	92282											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825517	34825517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagttccttgtcctaatctCtacattcagttaaatggtct	5	11	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:34825517C>T	uc003oju.3	+	13	1824	c.1590C>T	c.(1588-1590)CTC>CTT	p.L530L	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	530										ovary(3)	3						GTCCTAATCTCTACATTCAGT	0.398													T	34825517	C	T	34825517	2	4	168	1	0	0	0	0	0	0	0	1	16965	900	32	4		4	UHRF1BP1	6	34825517	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2759721	34825517	136289550	207	92283											
SCUBE3	222663	broad.mit.edu	37	chr6	35199608	35199608	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcttcctcagcgacaaCcagcatacctgtatccagcg	8	15	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:35199608C>G	uc003okf.1	+	4	447	c.441C>G	c.(439-441)AAC>AAG	p.N147K	SCUBE3_uc003okg.1_Missense_Mutation_p.N147K|SCUBE3_uc003okh.1_Missense_Mutation_p.N18K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	147	EGF-like 3; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TCAGCGACAACCAGCATACCT	0.622													G	35199608	C	G	35199608	3	3	168	1	0	0	0	0	1	0	0	0	13946	506	18	5	455	5	SCUBE3	6	35199608	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	374091	35199608	135915459	208	92284											
BRPF3	27154	broad.mit.edu	37	chr6	36169369	36169369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagaggaggaagaagagGaagaggtggaggaagaagag	21	0	0	6			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:36169369G>A	uc003olv.3	+	2	1494	c.1270G>A	c.(1270-1272)GAA>AAA	p.E424K	BRPF3_uc010jwb.2_Missense_Mutation_p.E424K|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.E424K	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	424	Glu-rich.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						ggaagaagaggaagaggtgga	0.448													A	36169369	G	A	36169369	3	1	168	1	0	0	0	0	1	0	0	0	1521	1175	41	4	1272	4	BRPF3	6	36169369	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	969761	36169369	134945698	209	92285											
FOXP4	116113	broad.mit.edu	37	chr6	41558042	41558042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgagttctacaagaacgCcgacgtccggccccccttca	8	16	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:41558042C>A	uc003oql.2	+	12	1849	c.1391C>A	c.(1390-1392)GCC>GAC	p.A464D	FOXP4_uc003oqm.2_Missense_Mutation_p.A462D|FOXP4_uc003oqn.2_Missense_Mutation_p.A451D	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	464			A -> T (in a breast cancer sample; somatic mutation).		embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TACAAGAACGCCGACGTCCGG	0.622													A	41558042	C	A	41558042	3	1	168	1	0	0	0	0	1	0	0	0	6029	739	26	5	1433	5	FOXP4	6	41558042	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	5388673	41558042	129557025	210	92286											
SRF	6722	broad.mit.edu	37	chr6	43141605	43141605	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctatgagctgtccacgctGacagggacacaggtgctgtt	13	11	0	2	rs142020494	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:43141605G>A	uc003oui.2	+	2	1009	c.534G>A	c.(532-534)CTG>CTA	p.L178L	SRF_uc011dvf.1_5'UTR	NM_003131	NP_003122	P11831	SRF_HUMAN	serum response factor (c-fos serum response	178	MADS-box.||Involved in dimerization.				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			ovary(1)|breast(1)|central_nervous_system(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGTCCACGCTGACAGGGACAC	0.522													A	43141605	G	A	43141605	2	1	168	1	0	0	0	0	0	0	0	1	15142	1277	45	4		4	SRF	6	43141605	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1583563	43141605	127973462	211	92287											
TDRD6	221400	broad.mit.edu	37	chr6	46658338	46658338	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaacacccttgcttgtttgGctaagcgaacagtaaacaga	9	9	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:46658338G>C	uc003oyj.2	+	1	2473	c.2473G>C	c.(2473-2475)GCT>CCT	p.A825P	TDRD6_uc010jze.2_Missense_Mutation_p.A819P	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	825	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGCTTGTTTGGCTAAGCGAAC	0.413													C	46658338	G	C	46658338	3	2	168	1	0	0	0	0	1	0	0	0	15731	1203	42	5	2475	5	TDRD6	6	46658338	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3516733	46658338	124456729	212	92288											
MEP1A	4224	broad.mit.edu	37	chr6	46801255	46801255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcatggtgttcactacctCgaagtcgcacacatctccag	8	13	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:46801255C>T	uc010jzh.1	+	11	1631	c.1589C>T	c.(1588-1590)TCG>TTG	p.S530L	MEP1A_uc011dwg.1_Missense_Mutation_p.S252L|MEP1A_uc011dwh.1_Missense_Mutation_p.S558L|MEP1A_uc011dwi.1_Missense_Mutation_p.S430L	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	530	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			TTCACTACCTCGAAGTCGCAC	0.522													T	46801255	C	T	46801255	3	4	168	1	0	0	0	0	1	0	0	0	9475	893	31	1	1631	1	MEP1A	6	46801255	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	142917	46801255	124313812	213	92289											
PKHD1	5314	broad.mit.edu	37	chr6	51640698	51640698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagcttttgttcctttTctaagggattttctaaagta	7	6	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:51640698T>C	uc003pah.1	-	54	8738	c.8462A>G	c.(8461-8463)GAA>GGA	p.E2821G	PKHD1_uc010jzn.1_Missense_Mutation_p.E804G|PKHD1_uc003pai.2_Missense_Mutation_p.E2821G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2821	G8 2.|Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTGTTCCTTTTCTAAGGGATT	0.338													C	51640698	T	C	51640698	3	2	168	1	0	0	0	0	1	0	0	0	11971	1783	62	3	3857	3	PKHD1	6	51640698	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	4839443	51640698	119474369	214	92290											
GSTA5	221357	broad.mit.edu	37	chr6	52696671	52696671	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgaaaatcttccttgctTcttctaaagatttctcatcc	3	12	4	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:52696671T>A	uc003pba.1	-	7	714	c.644A>T	c.(643-645)GAA>GTA	p.E215V		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	215					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.E215K(1)		ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTTCCTTGCTTCTTCTAAAGA	0.453													A	52696671	T	A	52696671	3	1	168	1	0	0	0	0	1	0	0	0	6834	1783	62	5	28	5	GSTA5	6	52696671	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1055973	52696671	118418396	215	92291											
KIAA1586	57691	broad.mit.edu	37	chr6	56917860	56917860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggaatggattgcatattTagtaacccctaatggcagta	9	7	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:56917860T>C	uc003pdj.2	+	4	733	c.563T>C	c.(562-564)TTA>TCA	p.L188S	KIAA1586_uc011dxm.1_Missense_Mutation_p.L161S	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	188							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTGCATATTTAGTAACCCCT	0.378													C	56917860	T	C	56917860	3	2	168	1	0	0	0	0	1	0	0	0	8245	1764	61	3	577	3	KIAA1586	6	56917860	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	4221189	56917860	114197207	216	92292											
LGSN	51557	broad.mit.edu	37	chr6	63989980	63989980	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagctatttcttcattctcCaactcatatttcttcatggc	4	12	6	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:63989980C>G	uc003peh.2	-	4	1510	c.1476G>C	c.(1474-1476)TTG>TTC	p.L492F	LGSN_uc003pei.2_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	492					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	CTTCATTCTCCAACTCATATT	0.353													G	63989980	C	G	63989980	3	3	168	1	0	0	0	0	1	0	0	0	8759	593	21	5	57	5	LGSN	6	63989980	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7072120	63989980	107125087	217	92293											
COL19A1	1310	broad.mit.edu	37	chr6	70812095	70812095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggacctcccggaaaacCaggacccccaggaccacctg	9	17	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:70812095C>T	uc003pfc.1	+	16	1376	c.1259C>T	c.(1258-1260)CCA>CTA	p.P420L	COL19A1_uc010kam.1_Missense_Mutation_p.P316L	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	420	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						CCCGGAAAACCAGGACCCCCA	0.388													T	70812095	C	T	70812095	3	4	168	1	0	0	0	0	1	0	0	0	3676	594	21	4	1317	4	COL19A1	6	70812095	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6822115	70812095	100302972	218	92294											
GJA1	2697	broad.mit.edu	37	chr6	121768639	121768639	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcttcatgctggtgGtgtccttggtgtccctggcc	11	12	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:121768639G>C	uc003pyr.2	+	2	896	c.646G>C	c.(646-648)GTG>CTG	p.V216L	GJA1_uc011ebo.1_Missense_Mutation_p.V117L|GJA1_uc011ebp.1_Missense_Mutation_p.V4L	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	216	Helical; (Potential).		V -> L (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CATGCTGGTGGTGTCCTTGGT	0.488													C	121768639	G	C	121768639	3	2	168	1	0	0	0	0	1	0	0	0	6400	1261	44	5	648	5	GJA1	6	121768639	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	50956544	121768639	49346428	219	92295											
LAMA2	3908	broad.mit.edu	37	chr6	129371152	129371152	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggacctgaaatgtactgcAaattggtagaacatgtccct	9	8	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:129371152A>T	uc003qbn.2	+	2	307	c.202A>T	c.(202-204)AAA>TAA	p.K68*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.K68*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	68	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATGTACTGCAAATTGGTAGA	0.433													T	129371152	A	T	129371152	4	4	168	1	0	0	0	0	0	1	0	0	8606	131	5	5	208	5	LAMA2	6	129371152	Nonsense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	7602513	129371152	41743915	220	92296											
LAMA2	3908	broad.mit.edu	37	chr6	129465225	129465225	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccccattgtcaccagaagAgtaagttatgatgaatcata	8	8	2	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:129465225A>T	uc003qbn.2	+	5	924	c.819A>T	c.(817-819)AGA>AGT	p.R273S	LAMA2_uc003qbo.2_Missense_Mutation_p.R273S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	273	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCACCAGAAGAGTAAGTTATG	0.368													T	129465225	A	T	129465225	3	4	168	1	0	0	0	0	1	0	0	0	8606	318	11	5	837	5	LAMA2	6	129465225	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	94073	129465225	41649842	221	92297											
MED23	9439	broad.mit.edu	37	chr6	131919758	131919758	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttccagagaagacaaagaaaGagaggaggggagccctgcat	14	7	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:131919758G>C	uc003qcs.1	-	19	2538	c.2364C>G	c.(2362-2364)CTC>CTG	p.L788L	MED23_uc003qcq.2_Silent_p.L794L|MED23_uc011eca.1_Silent_p.L429L|MED23_uc003qct.1_Silent_p.L794L	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	788					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GACAAAGAAAGAGAGGAGGGG	0.388													C	131919758	G	C	131919758	2	2	168	1	0	0	0	0	0	0	0	1	9441	929	33	5		5	MED23	6	131919758	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2454533	131919758	39195309	222	92298											
MED23	9439	broad.mit.edu	37	chr6	131944588	131944588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtgtcagagtttatcaggGattcacaaaccagcctataa	9	8	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:131944588G>A	uc003qcs.1	-	5	473	c.299C>T	c.(298-300)TCC>TTC	p.S100F	MED23_uc003qcq.2_Missense_Mutation_p.S100F|MED23_uc003qct.1_Missense_Mutation_p.S100F|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	100					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTTTATCAGGGATTCACAAAC	0.358													A	131944588	G	A	131944588	3	1	168	1	0	0	0	0	1	0	0	0	9441	1174	41	4	3936	4	MED23	6	131944588	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	24830	131944588	39170479	223	92299											
TAAR1	134864	broad.mit.edu	37	chr6	132967012	132967043	+	Frame_Shift_Del	DEL	ACTATCAGATTGCCAACGAGTGTGGTCAGAAT	ACTATCAGATTGCCAACGAGTGTGGTCAGAAT	-													agtgtgatatagaaacaataActatcagattgccaacgagt					rs147905139	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:132967011_132967042AACTATCAGATTGCCAACGAGTGTGGTCAGAAT>A	uc003qdm.1	-	0	101_132	c.101_132ATTCTGACCACACTCGTTGGCAATCTGATAGTT>T	c.(100-132)attctgaccacactcgttggcaatctgatagttfs	p.I34fs		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	34						plasma membrane		p.V39I(2)		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)	TAGAAACAATAACTATCAGATTGCCAACGAGTGTGGTCAGAATTATGAGCAC	0.405													-	132967043	ACTATCAGATTGCCAACGAGTGTGGTCAGAAT	-	132967012	7	5	168	1	0	1	0	1	0	0	0	0	15486	43	2	0	892	0	TAAR1	6	132967012	Frame_Shift_Del	DEL	ACTATCAGATTGCCAACGAGTGTGGTCAGAAT	TCGA-CG-4437-01A-01D-1800-08	1022424	132967012	38148055	224	92300											
KIAA1244	57221	broad.mit.edu	37	chr6	138583879	138583879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgcatcaagggtggcaTcgaagcttgctatgcagccg	13	10	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:138583879T>G	uc003qhu.2	+	12	1259	c.1259T>G	c.(1258-1260)ATC>AGC	p.I420S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	420					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAGGGTGGCATCGAAGCTTGC	0.493													G	138583879	T	G	138583879	3	3	168	1	0	0	0	0	1	0	0	0	8217	1435	50	5	1305	5	KIAA1244	6	138583879	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	5616867	138583879	32531188	225	92301											
GPR126	57211	broad.mit.edu	37	chr6	142736225	142736251	+	Splice_Site	DEL	TGCTTTTGAGTAAGTATATTTTTAATC	TGCTTTTGAGTAAGTATATTTTTAATC	-													gcaactctcctgacatatgtTgcttttgagtaagtatattt							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:142736224_142736250TTGCTTTTGAGTAAGTATATTTTTAATC>T	uc010khe.3	+	19	3080	c.2669_splice	c.e19+1	p.E890_splice	GPR126_uc010khc.3_Splice_Site_p.E890_splice|GPR126_uc010khd.3_Splice_Site_p.E862_splice|GPR126_uc010khf.3_Splice_Site_p.E862_splice	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	890					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGACATATGTTGCTTTTGAGTAAGTATATTTTTAATCTGCCAAACC	0.361													-	142736251	TGCTTTTGAGTAAGTATATTTTTAATC	-	142736225	8	5	168	1	0	1	0	1	0	0	1	0	6640	1799	63	0	2735	0	GPR126	6	142736225	Splice_Site	DEL	TGCTTTTGAGTAAGTATATTTTTAATC	TCGA-CG-4437-01A-01D-1800-08	4152346	142736225	28378842	226	92302											
GRM1	2911	broad.mit.edu	37	chr6	146755717	146755717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacacggaagaagacgaaCtggaagaggaggaggaggac	18	5	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:146755717C>T	uc010khw.1	+	9	3840	c.3370C>T	c.(3370-3372)CTG>TTG	p.L1124L	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1124	Asp/Glu-rich (acidic).|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAAGACGAACTGGAAGAGGA	0.642													T	146755717	C	T	146755717	2	4	168	1	0	0	0	0	0	0	0	1	6796	564	20	4		4	GRM1	6	146755717	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4019492	146755717	24359350	227	92303											
MTHFD1L	25902	broad.mit.edu	37	chr6	151203921	151203921	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagatgaaatcttaaagatCaatgaagataccagagtaca	7	5	2	6			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:151203921C>T	uc003qob.2	+	5	709	c.441C>T	c.(439-441)ATC>ATT	p.I147I	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.I147I|MTHFD1L_uc003qoc.2_Silent_p.I94I|MTHFD1L_uc003qoa.1_Silent_p.I147I|MTHFD1L_uc010kil.1_RNA	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	147	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				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			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TCTTAAAGATCAATGAAGATA	0.323													T	151203921	C	T	151203921	2	4	168	1	0	0	0	0	0	0	0	1	9928	816	29	4		4	MTHFD1L	6	151203921	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4448204	151203921	19911146	228	92304											
SYNE1	23345	broad.mit.edu	37	chr6	152650897	152650897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggcttcctggatgtctcCatccagctctgagagctcag	10	12	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:152650897C>T	uc010kiw.2	-	78	15525	c.14923G>A	c.(14923-14925)GGA>AGA	p.G4975R	SYNE1_uc003qot.3_Missense_Mutation_p.G4904R|SYNE1_uc003qou.3_Missense_Mutation_p.G4975R|SYNE1_uc010kiz.2_Missense_Mutation_p.G730R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4975	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATGTCTCCATCCAGCTCT	0.463										HNSCC(10;0.0054)			T	152650897	C	T	152650897	3	4	168	1	0	0	0	0	1	0	0	0	15442	603	21	4	11819	4	SYNE1	6	152650897	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1446976	152650897	18464170	229	92305											
SYNE1	23345	broad.mit.edu	37	chr6	152712632	152712632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgggaacacaggcggCcctcctgcccagcaccgtgg	15	15	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:152712632C>A	uc010kiw.2	-	52	8386	c.7784G>T	c.(7783-7785)GGC>GTC	p.G2595V	SYNE1_uc003qot.3_Missense_Mutation_p.G2602V|SYNE1_uc003qou.3_Missense_Mutation_p.G2595V|SYNE1_uc010kjb.1_Missense_Mutation_p.G2578V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2595	Cytoplasmic (Potential).|Spectrin 5.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACACAGGCGGCCCTCCTGCCC	0.502										HNSCC(10;0.0054)			A	152712632	C	A	152712632	3	1	168	1	0	0	0	0	1	0	0	0	15442	739	26	5	19062	5	SYNE1	6	152712632	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	61735	152712632	18402435	230	92306											
SYNE1	23345	broad.mit.edu	37	chr6	152841659	152841659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatggattcgcttcatccGgcgtccttgttcacaaggct	10	12	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:152841659G>A	uc010kiw.2	-	6	846	c.244C>T	c.(244-246)CGG>TGG	p.R82W	SYNE1_uc003qot.3_Missense_Mutation_p.R82W|SYNE1_uc003qou.3_Missense_Mutation_p.R82W|SYNE1_uc010kjb.1_Missense_Mutation_p.R82W|SYNE1_uc003qpa.1_Missense_Mutation_p.R82W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	82	Actin-binding.|Cytoplasmic (Potential).|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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCTTCATCCGGCGTCCTTGT	0.393										HNSCC(10;0.0054)			A	152841659	G	A	152841659	3	1	168	1	0	0	0	0	1	0	0	0	15442	1115	39	1	26811	1	SYNE1	6	152841659	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	129027	152841659	18273408	231	92307											
PARK2	5071	broad.mit.edu	37	chr6	161969977	161969977	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacagccagggcgggggcatAacacgccccccatctgcagg	13	16	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:161969977A>T	uc003qtx.3	-	9	1126	c.992T>A	c.(991-993)TTA>TAA	p.L331*	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Nonsense_Mutation_p.L140*|PARK2_uc003qtw.3_Nonsense_Mutation_p.L140*|PARK2_uc003qty.3_Nonsense_Mutation_p.L303*|PARK2_uc003qtz.3_Nonsense_Mutation_p.L182*|PARK2_uc010kke.1_Nonsense_Mutation_p.L350*|PARK2_uc011egf.1_Nonsense_Mutation_p.L5*	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	331	IBR-type.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCGGGGGCATAACACGCCCCC	0.597													T	161969977	A	T	161969977	4	4	168	1	0	0	0	0	0	1	0	0	11449	372	13	5	421	5	PARK2	6	161969977	Nonsense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	9128318	161969977	9145090	232	92308											
RPS6KA2	6196	broad.mit.edu	37	chr6	166883360	166883360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcacaaagaagggatggCgcttaatttcctccactccg	10	11	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr6:166883360C>T	uc003qvb.1	-	11	1160	c.941G>A	c.(940-942)CGC>CAC	p.R314H	RPS6KA2_uc011ego.1_Missense_Mutation_p.R225H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R225H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R322H|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R339H	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	314	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			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		GAAGGGATGGCGCTTAATTTC	0.502													T	166883360	C	T	166883360	3	4	168	1	0	0	0	0	1	0	0	0	13651	768	27	1	1304	1	RPS6KA2	6	166883360	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4913383	166883360	4231707	233	92309											
COL28A1	340267	broad.mit.edu	37	chr7	7555464	7555464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtcacccttgtacccaGgaattccctaatttaaaaag	5	12	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:7555464G>T	uc003src.1	-	8	980	c.863C>A	c.(862-864)CCT>CAT	p.P288H	COL28A1_uc011jxe.1_Translation_Start_Site|COL28A1_uc003srd.2_Translation_Start_Site	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	288					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTTGTACCCAGGAATTCCCTA	0.284													T	7555464	G	T	7555464	3	4	168	1	0	0	0	0	1	0	0	0	3686	1000	35	5	2626	5	COL28A1	7	7555464	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08		7555464	151583199	234	92310											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067192	18067192	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggcattaatcatgaTcaaaagctccattagactgt	7	9	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:18067192T>A	uc003stz.2	-	1	295	c.214A>T	c.(214-216)ATC>TTC	p.I72F		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	72					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTAATCATGATCAAAAGCTCC	0.488													A	18067192	T	A	18067192	3	1	168	1	0	0	0	0	1	0	0	0	12579	1435	50	5	746	5	PRPS1L1	7	18067192	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	10511728	18067192	141071471	235	92311											
GPNMB	10457	broad.mit.edu	37	chr7	23286540	23286540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagattgccacttgatgccGccaaacgtgagtaaccctta	8	12	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:23286540G>A	uc003swc.2	+	1	225	c.64G>A	c.(64-66)GCC>ACC	p.A22T	GPNMB_uc003swa.2_Missense_Mutation_p.A22T|GPNMB_uc003swb.2_Missense_Mutation_p.A22T|GPNMB_uc011jyy.1_Missense_Mutation_p.A22T|GPNMB_uc011jyz.1_Missense_Mutation_p.A22T	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	22	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			ACTTGATGCCGCCAAACGTGA	0.448													A	23286540	G	A	23286540	3	1	168	1	0	0	0	0	1	0	0	0	6620	1087	38	1	66	1	GPNMB	7	23286540	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	5219348	23286540	135852123	236	92312											
GPNMB	10457	broad.mit.edu	37	chr7	23296606	23296606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccaaagccatcataacGtcttccctgatgggaaacct	8	14	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:23296606G>A	uc003swc.2	+	4	624	c.463G>A	c.(463-465)GTC>ATC	p.V155I	GPNMB_uc003swa.2_Missense_Mutation_p.V155I|GPNMB_uc003swb.2_Missense_Mutation_p.V155I|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.V56I	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	155	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CCATCATAACGTCTTCCCTGA	0.483													A	23296606	G	A	23296606	3	1	168	1	0	0	0	0	1	0	0	0	6620	1145	40	1	477	1	GPNMB	7	23296606	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	10066	23296606	135842057	237	92313											
GPNMB	10457	broad.mit.edu	37	chr7	23307588	23307588	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagctccctaatagactttGtcgtgacctgccaagggagg	11	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:23307588G>C	uc003swc.2	+	8	1398	c.1237G>C	c.(1237-1239)GTC>CTC	p.V413L	GPNMB_uc003swb.2_Missense_Mutation_p.V401L|GPNMB_uc011jyy.1_Missense_Mutation_p.V355L|GPNMB_uc011jyz.1_Missense_Mutation_p.V302L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	413	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			AATAGACTTTGTCGTGACCTG	0.493													C	23307588	G	C	23307588	3	2	168	1	0	0	0	0	1	0	0	0	6620	1377	48	5	1267	5	GPNMB	7	23307588	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	10982	23307588	135831075	238	92314											
IGF2BP3	10643	broad.mit.edu	37	chr7	23385595	23385595	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtctgtgtcttgctcaAtttttttaagatttcttcct	6	7	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:23385595A>T	uc003swg.2	-	8	1171	c.905T>A	c.(904-906)ATT>AAT	p.I302N	IGF2BP3_uc003swf.2_Translation_Start_Site	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	302	KH 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			ovary(2)	2						GTCTTGCTCAATTTTTTTAAG	0.348													T	23385595	A	T	23385595	3	4	168	1	0	0	0	0	1	0	0	0	7575	101	4	5	866	5	IGF2BP3	7	23385595	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	78007	23385595	135753068	239	92315											
HERPUD2	64224	broad.mit.edu	37	chr7	35673968	35673968	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttgcccatcattgttaActtcggcattattgttggga	8	8	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:35673968A>C	uc003tet.2	-	7	1818	c.1013T>G	c.(1012-1014)GTT>GGT	p.V338G	HERPUD2_uc003tes.3_Missense_Mutation_p.V338G	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	338					response to unfolded protein	integral to membrane				ovary(3)	3						ATCATTGTTAACTTCGGCATT	0.383													C	35673968	A	C	35673968	3	2	168	1	0	0	0	0	1	0	0	0	7064	43	2	5	215	5	HERPUD2	7	35673968	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	12288373	35673968	123464695	240	92316											
ABCA13	154664	broad.mit.edu	37	chr7	48321025	48321025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtgaagatgatggtcGtacgtgtgctcaccatcgtt	12	7	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:48321025G>A	uc003toq.2	+	19	8837	c.8812G>A	c.(8812-8814)GTA>ATA	p.V2938I	ABCA13_uc010kys.1_Missense_Mutation_p.V12I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2938					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GATGATGGTCGTACGTGTGCT	0.463													A	48321025	G	A	48321025	3	1	168	1	0	0	0	0	1	0	0	0	31	1145	40	1	8715	1	ABCA13	7	48321025	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	12647057	48321025	110817638	241	92317											
ABCA13	154664	broad.mit.edu	37	chr7	48443297	48443301	+	Frame_Shift_Del	DEL	ACTTA	ACTTA	-													cagaactcttcaggatgtggActtaactcagcatcagcaca							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:48443296_48443300GACTTA>G	uc003toq.2	+	38	11914_11918	c.11890_11894GACTTA>G	c.(11890-11895)gacttafs	p.D3964fs	ABCA13_uc010kys.1_Frame_Shift_Del_p.D1038fs|ABCA13_uc003tos.1_Frame_Shift_Del_p.D790fs|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3964	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						TCAGGATGTGGACTTAACTCAGCAT	0.449													-	48443301	ACTTA	-	48443297	7	5	168	1	0	1	0	1	0	0	0	0	31	275	10	0	11874	0	ABCA13	7	48443297	Frame_Shift_Del	DEL	ACTTA	TCGA-CG-4437-01A-01D-1800-08	122272	48443297	110695366	242	92318											
ABCA13	154664	broad.mit.edu	37	chr7	48494772	48494772	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgacctgctgctgccagtccTcttcgtggccttggccatgg	12	15	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:48494772T>A	uc003toq.2	+	43	12729	c.12704T>A	c.(12703-12705)CTC>CAC	p.L4235H	ABCA13_uc010kys.1_Missense_Mutation_p.L1309H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4235	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CTGCCAGTCCTCTTCGTGGCC	0.687													A	48494772	T	A	48494772	3	1	168	1	0	0	0	0	1	0	0	0	31	1551	54	5	12703	5	ABCA13	7	48494772	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	51475	48494772	110643891	243	92319											
ABCA13	154664	broad.mit.edu	37	chr7	48559761	48559761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacctgacccacaacttcgGcattgattcctatgtgagtc	8	12	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:48559761G>T	uc003toq.2	+	53	13947	c.13922G>T	c.(13921-13923)GGC>GTC	p.G4641V	ABCA13_uc010kys.1_Missense_Mutation_p.G1716V|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.G371V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4641					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CACAACTTCGGCATTGATTCC	0.463													T	48559761	G	T	48559761	3	4	168	1	0	0	0	0	1	0	0	0	31	1203	42	5	13961	5	ABCA13	7	48559761	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	64989	48559761	110578902	244	92320											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73973284	73973284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catcgaggggctgcccccagGaatcccgttccgaaagccct	11	16	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:73973284G>T	uc003uaq.2	+	21	2639	c.2246G>T	c.(2245-2247)GGA>GTA	p.G749V	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.G766V|GTF2IRD1_uc003uap.2_Missense_Mutation_p.G734V|GTF2IRD1_uc003uar.1_Missense_Mutation_p.G734V	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	749	GTF2I-like 4.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CTGCCCCCAGGAATCCCGTTC	0.587													T	73973284	G	T	73973284	3	4	168	1	0	0	0	0	1	0	0	0	6868	1174	41	5	2324	5	GTF2IRD1	7	73973284	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	25413523	73973284	85165379	245	92321											
ABCB4	5244	broad.mit.edu	37	chr7	87092195	87092195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtacccagcgacataaaCaatttatcctgccaatcgga	7	11	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:87092195C>A	uc003uiv.1	-	4	241	c.165G>T	c.(163-165)TTG>TTT	p.L55F	ABCB4_uc003uiw.1_Missense_Mutation_p.L55F|ABCB4_uc003uix.1_Missense_Mutation_p.L55F|ABCB4_uc003uiy.2_Missense_Mutation_p.L55F	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	55	Helical; (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCGACATAAACAATTTATCCT	0.373													A	87092195	C	A	87092195	3	1	168	1	0	0	0	0	1	0	0	0	43	477	17	5	3795	5	ABCB4	7	87092195	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	13118911	87092195	72046468	246	92322											
ZNF804B	219578	broad.mit.edu	37	chr7	88956755	88956755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcacttaaacgacttcAtcagctggctgagttaaggc	9	9	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:88956755A>G	uc011khi.1	+	3	885	c.347A>G	c.(346-348)CAT>CGT	p.H116R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	116						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAACGACTTCATCAGCTGGCT	0.383										HNSCC(36;0.09)			G	88956755	A	G	88956755	3	3	168	1	0	0	0	0	1	0	0	0	18168	217	8	3	357	3	ZNF804B	7	88956755	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1864560	88956755	70181908	247	92323											
KRIT1	889	broad.mit.edu	37	chr7	91871404	91871404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggcagtattctttggacGaataacagcaacatatgcat	8	8	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:91871404G>A	uc003ulq.1	-	2	217	c.46C>T	c.(46-48)CGT>TGT	p.R16C	KRIT1_uc010lev.1_5'Flank|KRIT1_uc003ulr.1_Missense_Mutation_p.R16C|KRIT1_uc003uls.1_Missense_Mutation_p.R16C|KRIT1_uc003ult.1_Missense_Mutation_p.R16C|KRIT1_uc003ulu.1_Missense_Mutation_p.R16C|KRIT1_uc003ulv.1_Missense_Mutation_p.R16C	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	16					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			ovary(2)|lung(1)	3	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)			TTCTTTGGACGAATAACAGCA	0.303									Familial_Cerebral_Cavernous_Angioma				A	91871404	G	A	91871404	3	1	168	1	0	0	0	0	1	0	0	0	8445	1058	37	1	2228	1	KRIT1	7	91871404	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2914649	91871404	67267259	248	92324											
CALCR	799	broad.mit.edu	37	chr7	93108743	93108743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatcttctttcgtcctAcgacgtaaagaaatggcttg	7	11	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:93108743A>C	uc003umv.1	-	4	443	c.182T>G	c.(181-183)GTA>GGA	p.V61G	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.V43G|CALCR_uc003umw.2_Missense_Mutation_p.V43G	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	43	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTTTCGTCCTACGACGTAAAG	0.403													C	93108743	A	C	93108743	3	2	168	1	0	0	0	0	1	0	0	0	2579	391	14	5	1392	5	CALCR	7	93108743	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1237339	93108743	66029920	249	92325											
ASB4	51666	broad.mit.edu	37	chr7	95165756	95165756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctctgcaggtgatacAggcctgccattcttgtccta	9	13	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:95165756A>G	uc011kij.1	+	4	986	c.986A>G	c.(985-987)CAG>CGG	p.Q329R		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	329					intracellular signal transduction					central_nervous_system(1)	1	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)			CAGGTGATACAGGCCTGCCAT	0.428													G	95165756	A	G	95165756	3	3	168	1	0	0	0	0	1	0	0	0	1025	188	7	3	1072	3	ASB4	7	95165756	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2057013	95165756	63972907	250	92326											
ZAN	7455	broad.mit.edu	37	chr7	100350051	100350051	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctccccagaaaaactcaccAtccccacagaaaaacccacc	2	19	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:100350051A>T	uc003uwj.2	+	14	2488	c.2323A>T	c.(2323-2325)ATC>TTC	p.I775F	ZAN_uc003uwk.2_Missense_Mutation_p.I775F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	775	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAACTCACCATCCCCACAGA	0.532													T	100350051	A	T	100350051	3	4	168	1	0	0	0	0	1	0	0	0	17510	217	8	5	2373	5	ZAN	7	100350051	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	5184295	100350051	58788612	251	92327											
ZAN	7455	broad.mit.edu	37	chr7	100386946	100386946	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgactttgagctggtcgtcaGctttggtggaaggaaaaatg	14	6	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:100386946G>C	uc003uwj.2	+	40	7499	c.7334G>C	c.(7333-7335)AGC>ACC	p.S2445T	ZAN_uc003uwk.2_Missense_Mutation_p.S2445T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.S495T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2445	VWFD 4.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGGTCGTCAGCTTTGGTGGA	0.532													C	100386946	G	C	100386946	3	2	168	1	0	0	0	0	1	0	0	0	17510	971	34	5	7483	5	ZAN	7	100386946	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	36895	100386946	58751717	252	92328											
MOGAT3	346606	broad.mit.edu	37	chr7	100843711	100843711	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggttgggtgtgtcccagtcCacatagagccacaccaagta	11	11	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:100843711C>G	uc003uyc.2	-	2	362	c.195G>C	c.(193-195)GTG>GTC	p.V65V	MOGAT3_uc010lhr.2_Silent_p.V65V	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	65	Helical; (Potential).				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					TGTCCCAGTCCACATAGAGCC	0.592													G	100843711	C	G	100843711	2	3	168	1	0	0	0	0	0	0	0	1	9696	581	21	5		5	MOGAT3	7	100843711	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	456765	100843711	58294952	253	92329											
LHFPL3	375612	broad.mit.edu	37	chr7	104377251	104377251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccgctgggcatacatccTggctattattggaattttgg	11	8	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:104377251T>C	uc003vce.2	+	2	699	c.575T>C	c.(574-576)CTG>CCG	p.L192P	LHFPL3_uc003vcf.2_Missense_Mutation_p.L192P	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	178	Helical; (Potential).					integral to membrane					0						GCATACATCCTGGCTATTATT	0.473													C	104377251	T	C	104377251	3	2	168	1	0	0	0	0	1	0	0	0	8766	1580	55	3	581	3	LHFPL3	7	104377251	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	3533540	104377251	54761412	254	92330											
MLL5	55904	broad.mit.edu	37	chr7	104753013	104753013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaacagttccaggacaccacGtgactccagggcattttttg	9	11	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:104753013G>C	uc003vcm.2	+	27	5344	c.4810G>C	c.(4810-4812)GTG>CTG	p.V1604L	MLL5_uc010ljc.2_Missense_Mutation_p.V1604L|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.V338L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1604	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						AGGACACCACGTGACTCCAGG	0.527													C	104753013	G	C	104753013	3	2	168	1	0	0	0	0	1	0	0	0	9624	1145	40	5	4908	5	MLL5	7	104753013	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	375762	104753013	54385650	255	92331											
IMMP2L	83943	broad.mit.edu	37	chr7	111127338	111127338	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttcaaaattcctcacTttccagtggttcaaaagcac	5	11	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:111127338T>A	uc003vfq.1	-	3	638	c.195A>T	c.(193-195)AAA>AAT	p.K65N	IMMP2L_uc010ljr.1_Missense_Mutation_p.K65N|IMMP2L_uc003vfr.2_Missense_Mutation_p.K65N	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane protease-like	65					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		AATTCCTCACTTTCCAGTGGT	0.363													A	111127338	T	A	111127338	3	1	168	1	0	0	0	0	1	0	0	0	7717	1606	56	5	348	5	IMMP2L	7	111127338	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	6374325	111127338	48011325	256	92332											
CNOT4	4850	broad.mit.edu	37	chr7	135122926	135122932	+	Frame_Shift_Del	DEL	GCCCATT	GCCCATT	-													ctttctacatgcaggacaaaGcccattttcatcagtgcgaa							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:135122925_135122931AGCCCATT>A	uc003vsv.2	-	1	480_486	c.149_155AATGGGCT>T	c.(148-156)aatgggcttfs	p.N50fs	CNOT4_uc011kpy.2_Frame_Shift_Del_p.N50fs|CNOT4_uc011kpz.2_Frame_Shift_Del_p.N50fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.N50fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.N50fs|CNOT4_uc003vsu.2_Frame_Shift_Del_p.N50fs	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	50					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein 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						TGCAGGACAAAGCCCATTTTCATCAGT	0.382													-	135122932	GCCCATT	-	135122926	7	5	168	1	0	1	0	1	0	0	0	0	3621	971	34	0	1910	0	CNOT4	7	135122926	Frame_Shift_Del	DEL	GCCCATT	TCGA-CG-4437-01A-01D-1800-08	23995588	135122926	24015737	257	92333											
TRIM24	8805	broad.mit.edu	37	chr7	138252371	138252371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaccccctacagatggCtttcttggctcaacaagcca	7	15	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:138252371C>T	uc003vuc.2	+	10	1891	c.1676C>T	c.(1675-1677)GCT>GTT	p.A559V	TRIM24_uc003vub.2_Missense_Mutation_p.A525V	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	559					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			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						CTACAGATGGCTTTCTTGGCT	0.408													T	138252371	C	T	138252371	3	4	168	1	0	0	0	0	1	0	0	0	16495	797	28	2	1714	2	TRIM24	7	138252371	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3129445	138252371	20886292	258	92334											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138453928	138453928	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attggcttacggaggattctCtccagtgattcacaccttct	8	11	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:138453928C>G	uc003vuf.2	-	3	424	c.186G>C	c.(184-186)GAG>GAC	p.E62D	ATP6V0A4_uc003vug.2_Missense_Mutation_p.E62D|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.E62D	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	62	Cytoplasmic (Potential).				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			pancreas(1)	1						GGAGGATTCTCTCCAGTGATT	0.353													G	138453928	C	G	138453928	3	3	168	1	0	0	0	0	1	0	0	0	1170	912	32	5	2412	5	ATP6V0A4	7	138453928	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	201557	138453928	20684735	259	92335											
CHPF2	54480	broad.mit.edu	37	chr7	150934818	150934818	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtgtgacacagcgtgGgcaccggcgggccctggctc	17	12	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:150934818G>C	uc003wjr.1	+	4	2883	c.1370G>C	c.(1369-1371)GGG>GCG	p.G457A	CHPF2_uc003wjq.1_Missense_Mutation_p.G449A|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	457	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						ACACAGCGTGGGCACCGGCGG	0.642													C	150934818	G	C	150934818	3	2	168	1	0	0	0	0	1	0	0	0	3369	1232	43	5	1384	5	CHPF2	7	150934818	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	12480890	150934818	8203845	260	92336											
ACTR3B	57180	broad.mit.edu	37	chr7	152517527	152517527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaccgcaaaagccattaaGgtaaaaacagatgggaaacc	10	8	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr7:152517527G>T	uc003wle.1	+	7	801	c.684G>T	c.(682-684)AAG>AAT	p.K228N	ACTR3B_uc003wlf.1_Missense_Mutation_p.K228N|ACTR3B_uc003wlg.1_Missense_Mutation_p.K140N|ACTR3B_uc011kvp.1_Missense_Mutation_p.K140N	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	actin-related protein 3-beta isoform 1	228					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding				0		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AAGCCATTAAGGTAAAAACAG	0.517													T	152517527	G	T	152517527	3	4	168	1	0	0	0	0	1	0	0	0	213	1014	35	5	710	5	ACTR3B	7	152517527	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1582709	152517527	6621136	261	92337											
ERICH1	157697	broad.mit.edu	37	chr8	618699	618699	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtggtacaggatggacAcgtctgagggcagcatgctg	15	8	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:618699A>T	uc003wph.2	-	5	1222	c.1157T>A	c.(1156-1158)GTG>GAG	p.V386E	ERICH1_uc011kwh.1_Missense_Mutation_p.V386E|ERICH1_uc003wpe.1_Missense_Mutation_p.V292E|ERICH1_uc003wpi.2_Missense_Mutation_p.V198E	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	386										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CAGGATGGACACGTCTGAGGG	0.547													T	618699	A	T	618699	3	4	168	1	0	0	0	0	1	0	0	0	5230	159	6	5	182	5	ERICH1	8	618699	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08		618699	145745323	262	92338											
LZTS1	11178	broad.mit.edu	37	chr8	20107748	20107748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagctccaggccctccaGcttgccccgcgtgtccttca	8	20	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:20107748G>A	uc003wzr.2	-	3	1387	c.1276C>T	c.(1276-1278)CTG>TTG	p.L426L	LZTS1_uc010ltg.1_Silent_p.L426L	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	426					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGGCCCTCCAGCTTGCCCCGC	0.637													A	20107748	G	A	20107748	2	1	168	1	0	0	0	0	0	0	0	1	9138	962	34	2		2	LZTS1	8	20107748	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	19489049	20107748	126256274	263	92339											
XPO7	23039	broad.mit.edu	37	chr8	21842211	21842211	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggtccagcagcagttggaCcagctgtccaccattgggcg	13	13	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:21842211C>G	uc003xaa.3	+	12	1434	c.1332C>G	c.(1330-1332)GAC>GAG	p.D444E	XPO7_uc010lti.2_Missense_Mutation_p.D453E|XPO7_uc010ltk.2_Missense_Mutation_p.D445E	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	444				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCAGTTGGACCAGCTGTCCA	0.537													G	21842211	C	G	21842211	3	3	168	1	0	0	0	0	1	0	0	0	17446	506	18	5	1430	5	XPO7	8	21842211	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1734463	21842211	124521811	264	92340											
FAM160B2	64760	broad.mit.edu	37	chr8	21959336	21959336	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acttcctccgagtgctgtttGaccgcatgtcccggattctg	10	13	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:21959336G>C	uc011kyx.1	+	14	1876	c.1825G>C	c.(1825-1827)GAC>CAC	p.D609H	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	609											0						AGTGCTGTTTGACCGCATGTC	0.642													C	21959336	G	C	21959336	3	2	168	1	0	0	0	0	1	0	0	0	5471	1290	45	5	1678	5	FAM160B2	8	21959336	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	117125	21959336	124404686	265	92341											
LGI3	203190	broad.mit.edu	37	chr8	22006340	22006340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctaggtcgttaggcttgCgcacgcgctgcgggtcaatg	14	11	2	0	rs143158388	by1000genomes	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:22006340C>T	uc003xav.2	-	8	1269	c.980G>A	c.(979-981)CGC>CAC	p.R327H	LGI3_uc010ltu.2_Missense_Mutation_p.R303H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	327	EAR 3.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTTAGGCTTGCGCACGCGCTG	0.617													T	22006340	C	T	22006340	3	4	168	1	0	0	0	0	1	0	0	0	8753	768	27	1	670	1	LGI3	8	22006340	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	47004	22006340	124357682	266	92342											
C8orf58	541565	broad.mit.edu	37	chr8	22458487	22458487	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgctgcccacgggtgctcaTcctgggagagaggtgacaag	15	11	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:22458487T>A	uc003xce.2	+	2	245	c.133T>A	c.(133-135)TCC>ACC	p.S45T	C8orf58_uc011kzl.1_Missense_Mutation_p.S45T|C8orf58_uc003xcf.2_Missense_Mutation_p.S45T	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	45										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CGGGTGCTCATCCTGGGAGAG	0.637													A	22458487	T	A	22458487	3	1	168	1	0	0	0	0	1	0	0	0	2433	1435	50	5	139	5	C8orf58	8	22458487	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	452147	22458487	123905535	267	92343											
PTK2B	2185	broad.mit.edu	37	chr8	27278199	27278199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttcaaatccgctacttgCcagaagacttcatggagagc	8	12	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:27278199C>A	uc003xfn.1	+	9	1217	c.409C>A	c.(409-411)CCA>ACA	p.P137T	PTK2B_uc003xfo.1_Missense_Mutation_p.P137T|PTK2B_uc003xfp.1_Missense_Mutation_p.P137T|PTK2B_uc003xfq.1_Missense_Mutation_p.P137T	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	137	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCGCTACTTGCCAGAAGACTT	0.498													A	27278199	C	A	27278199	3	1	168	1	0	0	0	0	1	0	0	0	12763	739	26	5	419	5	PTK2B	8	27278199	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4819712	27278199	119085823	268	92344											
CLU	1191	broad.mit.edu	37	chr8	27462624	27462624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgggaaagaagaagtgagGcctccggtggggcaggctga	18	7	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:27462624G>T	uc003xfw.1	-	4	704	c.646C>A	c.(646-648)CCT>ACT	p.P216T	CLU_uc010lux.1_Missense_Mutation_p.P81T|CLU_uc003xfx.1_Missense_Mutation_p.P216T|CLU_uc003xfy.1_Missense_Mutation_p.P227T|CLU_uc003xfz.1_Missense_Mutation_p.P268T	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	216					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAGAAGTGAGGCCTCCGGTGG	0.602													T	27462624	G	T	27462624	3	4	168	1	0	0	0	0	1	0	0	0	3568	1203	42	5	723	5	CLU	8	27462624	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	184425	27462624	118901398	269	92345											
EXTL3	2137	broad.mit.edu	37	chr8	28574839	28574839	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagagcgggaggaccgCttggaattgctgaagctctc	16	8	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:28574839C>G	uc003xgz.1	+	3	1856	c.1263C>G	c.(1261-1263)CGC>CGG	p.R421R		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	421	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGGAGGACCGCTTGGAATTGC	0.587													G	28574839	C	G	28574839	2	3	168	1	0	0	0	0	0	0	0	1	5327	784	28	5		5	EXTL3	8	28574839	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1112215	28574839	117789183	270	92346											
ADAM2	2515	broad.mit.edu	37	chr8	39613329	39613329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaattccacagcaatgCagagatgtccacttatgttg	9	9	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:39613329C>T	uc003xnj.2	-	16	1790	c.1715G>A	c.(1714-1716)TGC>TAC	p.C572Y	ADAM2_uc003xnk.2_Missense_Mutation_p.C553Y|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.C416Y	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	572	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		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)		CACAGCAATGCAGAGATGTCC	0.348													T	39613329	C	T	39613329	3	4	168	1	0	0	0	0	1	0	0	0	241	710	25	2	512	2	ADAM2	8	39613329	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	11038490	39613329	106750693	271	92347											
FAM110B	90362	broad.mit.edu	37	chr8	59058842	59058842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagccggtcagccccgCgggcaccttcacctctgctg	13	16	3	1	rs140524173		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:59058842C>T	uc003xtj.1	+	5	933	c.53C>T	c.(52-54)GCG>GTG	p.A18V		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	18						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCAGCCCCGCGGGCACCTTC	0.667													T	59058842	C	T	59058842	3	4	168	1	0	0	0	0	1	0	0	0	5397	768	27	1	55	1	FAM110B	8	59058842	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	19445513	59058842	87305180	272	92348											
PREX2	80243	broad.mit.edu	37	chr8	69030851	69030851	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagccagtgcagctcGtatttccacagtgatgaaat	10	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:69030851G>C	uc003xxv.1	+	27	3420	c.3393G>C	c.(3391-3393)TCG>TCC	p.S1131S		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1131					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AGTGCAGCTCGTATTTCCACA	0.433													C	69030851	G	C	69030851	2	2	168	1	0	0	0	0	0	0	0	1	12477	1132	40	5		5	PREX2	8	69030851	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	9972009	69030851	77333171	273	92349											
PREX2	80243	broad.mit.edu	37	chr8	69033245	69033245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaatcttcccagcagcGtccggactcttgctcagaac	9	14	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:69033245G>A	uc003xxv.1	+	30	3712	c.3685G>A	c.(3685-3687)GTC>ATC	p.V1229I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1229					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TCCCAGCAGCGTCCGGACTCT	0.388													A	69033245	G	A	69033245	3	1	168	1	0	0	0	0	1	0	0	0	12477	1145	40	1	4032	1	PREX2	8	69033245	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2394	69033245	77330777	274	92350											
PI15	51050	broad.mit.edu	37	chr8	75757475	75757487	+	Frame_Shift_Del	DEL	ATGTGCACACATT	ATGTGCACACATT	-													ctatgagatgttttggtcccAtgtgcacacattatacgcag							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:75757474_75757486CATGTGCACACATT>C	uc003yal.3	+	3	683_695	c.504_516CATGTGCACACATT>C	c.(502-516)cccatgtgcacacatfs	p.P168fs	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Frame_Shift_Del_p.P168fs	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	168						extracellular region	peptidase inhibitor activity	p.P168P(2)		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)			GTTTTGGTCCCATGTGCACACATTATACGCAGG	0.371													-	75757487	ATGTGCACACATT	-	75757475	7	5	168	1	0	1	0	1	0	0	0	0	11868	217	8	0	515	0	PI15	8	75757475	Frame_Shift_Del	DEL	ATGTGCACACATT	TCGA-CG-4437-01A-01D-1800-08	6724230	75757475	70606547	275	92351											
MMP16	4325	broad.mit.edu	37	chr8	89339508	89339508	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctccctccctccctcGtttcctttcaaaaaaaagtc	2	18	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:89339508G>A	uc003yeb.3	-	1	210	c.-72C>T	c.(-74--70)AACGA>AATGA		MMP16_uc003yec.2_Translation_Start_Site	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1						collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						tccctccctcGTTTCCTTTCA	0.483													A	89339508	G	A	89339508	1	1	168	1	0	0	0	0	0	0	0	0	9655	1160	40	1		1	MMP16	8	89339508	Translation_Start_Site	SNP	G	TCGA-CG-4437-01A-01D-1800-08	13582033	89339508	57024514	276	92352											
RGS22	26166	broad.mit.edu	37	chr8	101083727	101083727	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctactgtgaaattcatgccgGacttgctccatcttacttgt	7	11	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:101083727G>C	uc003yjb.1	-	6	659	c.464C>G	c.(463-465)TCC>TGC	p.S155C	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.S155C|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	155					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATTCATGCCGGACTTGCTCCA	0.378													C	101083727	G	C	101083727	3	2	168	1	0	0	0	0	1	0	0	0	13305	1174	41	5	3418	5	RGS22	8	101083727	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	11744219	101083727	45280295	277	92353											
ABRA	137735	broad.mit.edu	37	chr8	107773616	107773616	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgtaatcaaactcttcactGaaaggattgagcttctggga	9	8	4	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:107773616G>A	uc003ymm.3	-	2	849	c.795C>T	c.(793-795)TTC>TTT	p.F265F		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	265	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACTCTTCACTGAAAGGATTGA	0.507													A	107773616	G	A	107773616	2	1	168	1	0	0	0	0	0	0	0	1	100	1281	45	4		4	ABRA	8	107773616	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	6689889	107773616	38590406	278	92354											
CSMD3	114788	broad.mit.edu	37	chr8	113363439	113363439	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggataattccatcttcttAcaggtcctggcatacatgta	7	9	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:113363439A>T	uc003ynu.2	-	40	6449	c.6290T>A	c.(6289-6291)GTA>GAA	p.V2097E	CSMD3_uc003yns.2_Missense_Mutation_p.V1299E|CSMD3_uc003ynt.2_Missense_Mutation_p.V2057E|CSMD3_uc011lhx.1_Missense_Mutation_p.V1993E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2097	Extracellular (Potential).|Sushi 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCATCTTCTTACAGGTCCTGG	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113363439	A	T	113363439	3	4	168	1	0	0	0	0	1	0	0	0	3946	391	14	5	4961	5	CSMD3	8	113363439	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	5589823	113363439	33000583	279	92355											
CSMD3	114788	broad.mit.edu	37	chr8	113662442	113662442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttttttcgcatagaagGggctcttcatgactcaacct	9	9	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:113662442G>A	uc003ynu.2	-	19	3300	c.3141C>T	c.(3139-3141)CCC>CCT	p.P1047P	CSMD3_uc003yns.2_Silent_p.P319P|CSMD3_uc003ynt.2_Silent_p.P1007P|CSMD3_uc011lhx.1_Silent_p.P943P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1047	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CGCATAGAAGGGGCTCTTCAT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113662442	G	A	113662442	2	1	168	1	0	0	0	0	0	0	0	1	3946	1219	43	4		4	CSMD3	8	113662442	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	299003	113662442	32701580	280	92356											
COL14A1	7373	broad.mit.edu	37	chr8	121293176	121293176	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatttaagatgatggaAatgtttggtttggttgaaaa	12	0	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:121293176A>C	uc003yox.2	+	31	3967	c.3702A>C	c.(3700-3702)GAA>GAC	p.E1234D	COL14A1_uc003yoz.2_Missense_Mutation_p.E199D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1234	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			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			AGATGATGGAAATGTTTGGTT	0.284													C	121293176	A	C	121293176	3	2	168	1	0	0	0	0	1	0	0	0	3671	11	1	5	3820	5	COL14A1	8	121293176	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	7630734	121293176	25070846	281	92357											
C8orf76	84933	broad.mit.edu	37	chr8	124251354	124251354	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagagtcagcacttcaacatCatcactgctttctgtttctt	6	11	6	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:124251354C>A	uc003yqc.1	-	2	179	c.148G>T	c.(148-150)GAT>TAT	p.D50Y	C8orf76_uc003yqd.2_Missense_Mutation_p.D18Y	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	50							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTTCAACATCATCACTGCTT	0.398													A	124251354	C	A	124251354	3	1	168	1	0	0	0	0	1	0	0	0	2437	826	29	5	1014	5	C8orf76	8	124251354	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2958178	124251354	22112668	282	92358											
ADCY8	114	broad.mit.edu	37	chr8	131859736	131859736	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaggttcttcaagggtatCgacttgtcaaaatcacacca	8	10	5	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:131859736C>T	uc003ytd.3	-	11	2692	c.2436G>A	c.(2434-2436)TCG>TCA	p.S812S	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	812					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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCAAGGGTATCGACTTGTCAA	0.348										HNSCC(32;0.087)			T	131859736	C	T	131859736	2	4	168	1	0	0	0	0	0	0	0	1	300	871	31	1		1	ADCY8	8	131859736	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7608382	131859736	14504286	283	92359											
TG	7038	broad.mit.edu	37	chr8	134024148	134024175	+	Frame_Shift_Del	DEL	TCTCTGGACTCGTGGCAGTCCCTGGCCC	TCTCTGGACTCGTGGCAGTCCCTGGCCC	-													cgttgccttctctcctagtgTctctggactcgtggcagtcc					rs150031397	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:134024147_134024174GTCTCTGGACTCGTGGCAGTCCCTGGCCC>G	uc003ytw.3	+	35	6305_6332	c.6264_6291GTCTCTGGACTCGTGGCAGTCCCTGGCCC>G	c.(6262-6291)gtgtctctggactcgtggcagtccctggccfs	p.V2088fs	TG_uc010mdw.3_Frame_Shift_Del_p.V847fs|TG_uc011ljb.2_Frame_Shift_Del_p.V457fs|TG_uc011ljc.2_Frame_Shift_Del_p.M221fs	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2088					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.S2092*(2)		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)		CTCTCCTAGTGTCTCTGGACTCGTGGCAGTCCCTGGCCCTCTCTTCAG	0.526													-	134024175	TCTCTGGACTCGTGGCAGTCCCTGGCCC	-	134024148	7	5	168	1	0	1	0	1	0	0	0	0	15810	1667	58	0	6407	0	TG	8	134024148	Frame_Shift_Del	DEL	TCTCTGGACTCGTGGCAGTCCCTGGCCC	TCGA-CG-4437-01A-01D-1800-08	2164412	134024148	12339874	284	92360											
COL22A1	169044	broad.mit.edu	37	chr8	139636017	139636017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccatctctgccctctttGccttcttctccctgcaagag	5	16	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:139636017G>A	uc003yvd.2	-	52	4176	c.3729C>T	c.(3727-3729)GGC>GGT	p.G1243G	COL22A1_uc011ljo.1_Silent_p.G523G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1243	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			TGCCCTCTTTGCCTTCTTCTC	0.463										HNSCC(7;0.00092)			A	139636017	G	A	139636017	2	1	168	1	0	0	0	0	0	0	0	1	3681	1306	46	2		2	COL22A1	8	139636017	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	5611869	139636017	6728005	285	92361											
FLJ43860	389690	broad.mit.edu	37	chr8	142446065	142446065	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaggagcaggggcaccatgCtctggtgcacctgggtccgc	16	12	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:142446065C>G	uc003ywi.2	-	28	3584	c.3503G>C	c.(3502-3504)AGC>ACC	p.S1168T	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1168							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GGGCACCATGCTCTGGTGCAC	0.672													G	142446065	C	G	142446065	3	3	168	1	0	0	0	0	1	0	0	0	5930	797	28	5	473	5	FLJ43860	8	142446065	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2810048	142446065	3917957	286	92362											
BAI1	575	broad.mit.edu	37	chr8	143558756	143558756	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgcagtgcatggtgcCtgggatgagtggtcgccctg	15	12	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr8:143558756C>G	uc003ywm.2	+	5	1416	c.1233C>G	c.(1231-1233)GCC>GCG	p.A411A		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	411	Extracellular (Potential).|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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					TGCATGGTGCCTGGGATGAGT	0.726													G	143558756	C	G	143558756	2	3	168	1	0	0	0	0	0	0	0	1	1298	668	24	5		5	BAI1	8	143558756	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1112691	143558756	2805266	287	92363											
SMARCA2	6595	broad.mit.edu	37	chr9	2086906	2086906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctgactcaggtcttgaaCactcactatgtggcccccag	9	13	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:2086906C>A	uc003zhc.2	+	18	2703	c.2604C>A	c.(2602-2604)AAC>AAA	p.N868K	SMARCA2_uc003zhd.2_Missense_Mutation_p.N868K|SMARCA2_uc010mha.2_Intron	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	868	Helicase ATP-binding.				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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGGTCTTGAACACTCACTATG	0.522													A	2086906	C	A	2086906	3	1	168	1	0	0	0	0	1	0	0	0	14769	477	17	5	2670	5	SMARCA2	9	2086906	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08		2086906	139126525	288	92364											
C9orf46	55848	broad.mit.edu	37	chr9	5431897	5431897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaattattttaaaacatacCtgaagtcgagcattcataag	5	6	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:5431897C>T	uc003zjc.2	-	3	285	c.81G>A	c.(79-81)CAG>CAA	p.Q27Q	C9orf46_uc003zjd.2_Silent_p.Q27Q	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	hypothetical protein LOC55848	27						integral to membrane				ovary(1)	1	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)		TAAAACATACCTGAAGTCGAG	0.303													T	5431897	C	T	5431897	2	4	168	1	0	0	0	0	0	0	0	1	2484	695	24	4		4	C9orf46	9	5431897	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3344991	5431897	135781534	289	92365											
LINGO2	158038	broad.mit.edu	37	chr9	27949741	27949741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtgaggctcaatggtgCgaagctgggcccccactata	14	10	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:27949741C>T	uc003zqu.1	-	2	1123	c.929G>A	c.(928-930)CGC>CAC	p.R310H	LINGO2_uc010mjf.1_Missense_Mutation_p.R310H|LINGO2_uc003zqv.1_Missense_Mutation_p.R310H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	310	LRR 11.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		CTCAATGGTGCGAAGCTGGGC	0.527													T	27949741	C	T	27949741	3	4	168	1	0	0	0	0	1	0	0	0	8815	768	27	1	895	1	LINGO2	9	27949741	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	22517844	27949741	113263690	290	92366											
DNAJB5	25822	broad.mit.edu	37	chr9	34993435	34993435	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcctgtatgaccagtatgggGaggaaggtaagagggcagca	17	6	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:34993435G>C	uc003zvt.2	+	2	343	c.205G>C	c.(205-207)GAG>CAG	p.E69Q	DNAJB5_uc003zvs.2_Missense_Mutation_p.E103Q|DNAJB5_uc011los.1_Missense_Mutation_p.E141Q	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	69					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAGTATGGGGAGGAAGGTAA	0.562													C	34993435	G	C	34993435	3	2	168	1	0	0	0	0	1	0	0	0	4623	1175	41	5	427	5	DNAJB5	9	34993435	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	7043694	34993435	106219996	291	92367											
FAM189A2	9413	broad.mit.edu	37	chr9	72006631	72006631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacaccttcacaccagcgGggaggccccgagccgagagg	13	15	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:72006631G>A	uc010mon.1	+	11	1368	c.1264G>A	c.(1264-1266)GGG>AGG	p.G422R	FAM189A2_uc004ahg.2_Missense_Mutation_p.G422R|FAM189A2_uc010moo.1_Missense_Mutation_p.G159E	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61 precursor	422						integral to membrane					0						CACACCAGCGGGGAGGCCCCG	0.677													A	72006631	G	A	72006631	3	1	168	1	0	0	0	0	1	0	0	0	5516	1232	43	4	1302	4	FAM189A2	9	72006631	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	37013196	72006631	69206800	292	92368											
PRUNE2	158471	broad.mit.edu	37	chr9	79270385	79270385	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcacgccctcttcaaaGgggatgtccattcctacatc	7	15	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:79270385G>T	uc010mpk.2	-	10	8434	c.8310C>A	c.(8308-8310)CCC>CCA	p.P2770P	PRUNE2_uc011lsk.1_Silent_p.P19P|PRUNE2_uc011lsl.1_Silent_p.P34P|PRUNE2_uc011lsm.1_Silent_p.P34P|PRUNE2_uc004akj.3_Silent_p.P223P|PRUNE2_uc010mpl.1_Silent_p.P223P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2770					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CCTCTTCAAAGGGGATGTCCA	0.453													T	79270385	G	T	79270385	2	4	168	1	0	0	0	0	0	0	0	1	12641	987	35	5		5	PRUNE2	9	79270385	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	7263754	79270385	61943046	293	92369											
VPS13A	23230	broad.mit.edu	37	chr9	79824435	79824435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttccagtatccatattcGttatgaagatgatgtaagta	7	5	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:79824435G>A	uc004akr.2	+	6	742	c.482G>A	c.(481-483)CGT>CAT	p.R161H	VPS13A_uc004akp.3_Missense_Mutation_p.R161H|VPS13A_uc004akq.3_Missense_Mutation_p.R161H|VPS13A_uc004aks.2_Missense_Mutation_p.R161H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	161			R -> H (in a colorectal cancer sample; somatic mutation).		Golgi to endosome transport|protein transport	intracellular	protein binding	p.R161H(1)		pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATCCATATTCGTTATGAAGAT	0.274													A	79824435	G	A	79824435	3	1	168	1	0	0	0	0	1	0	0	0	17186	1145	40	1	504	1	VPS13A	9	79824435	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	554050	79824435	61388996	294	92370											
OGN	4969	broad.mit.edu	37	chr9	95152246	95152246	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagtagttgattttcagcaaGtgaaagttcttctaacagag	9	5	3	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:95152246G>C	uc004asa.2	-	5	755	c.520C>G	c.(520-522)CTT>GTT	p.L174V	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Missense_Mutation_p.L174V|OGN_uc011ltx.1_Missense_Mutation_p.L192V	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein	174	LRR 3.					extracellular space|proteinaceous extracellular matrix	growth factor activity				0						TTTTCAGCAAGTGAAAGTTCT	0.333													C	95152246	G	C	95152246	3	2	168	1	0	0	0	0	1	0	0	0	10846	1029	36	5	388	5	OGN	9	95152246	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	15327811	95152246	46061185	295	92371											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900351	112900351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgactgtagaggaagctgaaGctgcggctttcggctcagaa	14	9	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:112900351G>T	uc004bei.2	+	9	3415	c.3223G>T	c.(3223-3225)GCT>TCT	p.A1075S	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.A843S|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.A843S|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A653S|AKAP2_uc011lwi.1_Missense_Mutation_p.A701S|AKAP2_uc004bem.2_Missense_Mutation_p.A701S|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A661S|AKAP2_uc011lwj.1_Missense_Mutation_p.A612S|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.A612S	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	612							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GGAAGCTGAAGCTGCGGCTTT	0.512													T	112900351	G	T	112900351	3	4	168	1	0	0	0	0	1	0	0	0	11410	971	34	5	2557	5	PALM2-AKAP2	9	112900351	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	17748105	112900351	28313080	296	92372											
OR1Q1	158131	broad.mit.edu	37	chr9	125377696	125377696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatcctggtggtcctccGgatcccctcagccaagggca	10	16	2	0	rs138056123		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:125377696G>A	uc011lyy.1	+	1	680	c.680G>A	c.(679-681)CGG>CAG	p.R227Q		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTGGTCCTCCGGATCCCCTCA	0.537													A	125377696	G	A	125377696	3	1	168	1	0	0	0	0	1	0	0	0	10971	1116	39	1	682	1	OR1Q1	9	125377696	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	12477345	125377696	15835735	297	92373											
NEK6	10783	broad.mit.edu	37	chr9	127089678	127089678	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagctcggtgaccttggTctgggccgcttcttcagctc	13	12	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:127089678T>C	uc004bog.2	+	7	725	c.576T>C	c.(574-576)GGT>GGC	p.G192G	NEK6_uc004bof.2_Silent_p.G210G|NEK6_uc004boh.2_Silent_p.G226G|NEK6_uc010mwj.2_Silent_p.G145G|NEK6_uc010mwk.2_Silent_p.G192G|NEK6_uc004boi.2_Silent_p.G192G	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	192	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						GTGACCTTGGTCTGGGCCGCT	0.632													C	127089678	T	C	127089678	2	2	168	1	0	0	0	0	0	0	0	1	10328	1654	58	3		3	NEK6	9	127089678	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1711982	127089678	14123753	298	92374											
OLFML2A	169611	broad.mit.edu	37	chr9	127572405	127572405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttggaccccggcgatcTctccgtgcaccgggagacca	12	16	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:127572405T>C	uc004bov.2	+	8	1786	c.1673T>C	c.(1672-1674)CTC>CCC	p.L558P	OLFML2A_uc004bow.2_Missense_Mutation_p.L344P	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	558	Olfactomedin-like.										0						CCCGGCGATCTCTCCGTGCAC	0.662													C	127572405	T	C	127572405	3	2	168	1	0	0	0	0	1	0	0	0	10857	1551	54	3	1703	3	OLFML2A	9	127572405	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	482727	127572405	13641026	299	92375											
SH2D3C	10044	broad.mit.edu	37	chr9	130507127	130507127	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtcgctgcccactctcGgctgccacgcacgggaggct	12	17	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:130507127G>A	uc004bsc.2	-	7	1658	c.1516C>T	c.(1516-1518)CGA>TGA	p.R506*	SH2D3C_uc010mxo.2_Nonsense_Mutation_p.R346*|SH2D3C_uc004bry.2_Nonsense_Mutation_p.R348*|SH2D3C_uc004brz.3_Nonsense_Mutation_p.R152*|SH2D3C_uc011mak.1_Nonsense_Mutation_p.R152*|SH2D3C_uc004bsa.2_Nonsense_Mutation_p.R349*|SH2D3C_uc004bsb.2_Nonsense_Mutation_p.R438*	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	506					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GCCCACTCTCGGCTGCCACGC	0.642													A	130507127	G	A	130507127	4	1	168	1	0	0	0	0	0	1	0	0	14234	1124	39	1	1090	1	SH2D3C	9	130507127	Nonsense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2934722	130507127	10706304	300	92376											
GTF3C5	9328	broad.mit.edu	37	chr9	135926336	135926336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtctgcactaaccccgtgGaccggaaggtggaggaggag	17	9	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:135926336G>A	uc004cci.3	+	4	1076	c.739G>A	c.(739-741)GAC>AAC	p.D247N	GTF3C5_uc010mzz.2_Missense_Mutation_p.D122N|GTF3C5_uc004ccj.3_Missense_Mutation_p.D247N	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	247						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TAACCCCGTGGACCGGAAGGT	0.622													A	135926336	G	A	135926336	3	1	168	1	0	0	0	0	1	0	0	0	6876	1174	41	4	753	4	GTF3C5	9	135926336	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	5419209	135926336	5287095	301	92377											
MAMDC4	158056	broad.mit.edu	37	chr9	139753255	139753255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcctctgccggccacccCagcctcctgcctccgcttct	8	22	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:139753255C>T	uc004cjs.2	+	23	2956	c.2906C>T	c.(2905-2907)CCA>CTA	p.P969L	MAMDC4_uc011mej.1_Missense_Mutation_p.P306L	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1048	Extracellular (Potential).|MAM 6.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		CCGGCCACCCCAGCCTCCTGC	0.567													T	139753255	C	T	139753255	3	4	168	1	0	0	0	0	1	0	0	0	9204	594	21	4	2996	4	MAMDC4	9	139753255	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3826919	139753255	1460176	302	92378											
CACNA1B	774	broad.mit.edu	37	chr9	140773521	140773521	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcactccattcgagtatatGatcctggccaccatcatcgc	7	15	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr9:140773521G>A	uc004cog.2	+	2	445	c.300G>A	c.(298-300)ATG>ATA	p.M100I	uc004cof.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	100	Helical; Name=S1 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCGAGTATATGATCCTGGCCA	0.637													A	140773521	G	A	140773521	3	1	168	1	0	0	0	0	1	0	0	0	2539	1290	45	4	306	4	CACNA1B	9	140773521	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1020266	140773521	439910	303	92379											
ITIH5	80760	broad.mit.edu	37	chr10	7618424	7618424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcctcgtacctggctgcGtgccagctcctcgcacgctc	12	17	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:7618424G>A	uc001ijq.2	-	10	2049	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M	ITIH5_uc001ijp.2_Missense_Mutation_p.T443M|ITIH5_uc001ijr.1_Missense_Mutation_p.T657M	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	657					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						ACCTGGCTGCGTGCCAGCTCC	0.682													A	7618424	G	A	7618424	3	1	168	1	0	0	0	0	1	0	0	0	7907	1145	40	1	1001	1	ITIH5	10	7618424	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08		7618424	127916323	304	92380											
DHTKD1	55526	broad.mit.edu	37	chr10	12136219	12136219	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggcagtggggccacaAtgagctggatgagccattct	13	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:12136219A>T	uc001ild.3	+	7	1406	c.1307A>T	c.(1306-1308)AAT>ATT	p.N436I		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	436					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGGCCACAATGAGCTGGAT	0.453													T	12136219	A	T	12136219	3	4	168	1	0	0	0	0	1	0	0	0	4500	101	4	5	1333	5	DHTKD1	10	12136219	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	4517795	12136219	123398528	305	92381											
BEND7	222389	broad.mit.edu	37	chr10	13523094	13523094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagatttaggcataaacaCgtcaaagccttcagcaagtt	8	9	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:13523094C>T	uc001imm.2	-	6	1009	c.712G>A	c.(712-714)GTG>ATG	p.V238M	BEND7_uc001imn.2_Translation_Start_Site|BEND7_uc001imo.3_Missense_Mutation_p.V251M	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	290	BEN.						protein binding			ovary(1)|breast(1)	2						GGCATAAACACGTCAAAGCCT	0.398													T	13523094	C	T	13523094	3	4	168	1	0	0	0	0	1	0	0	0	1403	536	19	1	722	1	BEND7	10	13523094	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1386875	13523094	122011653	306	92382											
PTF1A	256297	broad.mit.edu	37	chr10	23481531	23481531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgtacttcgacgaggaCgacttcttcaccgaccagtc	8	14	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:23481531C>T	uc001irp.2	+	1	72	c.72C>T	c.(70-72)GAC>GAT	p.D24D		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	24					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						TCGACGAGGACGACTTCTTCA	0.657													T	23481531	C	T	23481531	2	4	168	1	0	0	0	0	0	0	0	1	12740	535	19	1		1	PTF1A	10	23481531	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	9958437	23481531	112053216	307	92383											
NRP1	8829	broad.mit.edu	37	chr10	33481257	33481257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcaacacactccactTgagctgcacgtgattgtcat	9	12	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:33481257T>C	uc001iwx.3	-	13	2537	c.2014A>G	c.(2014-2016)AAG>GAG	p.K672E	NRP1_uc001iwv.3_Missense_Mutation_p.K672E|NRP1_uc009xlz.2_Missense_Mutation_p.K665E|NRP1_uc001iww.3_Missense_Mutation_p.K484E|NRP1_uc001iwy.3_Missense_Mutation_p.K665E	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	672	Extracellular (Potential).|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			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	ACACTCCACTTGAGCTGCACG	0.488													C	33481257	T	C	33481257	3	2	168	1	0	0	0	0	1	0	0	0	10660	1821	63	3	777	3	NRP1	10	33481257	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	9999726	33481257	102053490	308	92384											
CDH23	64072	broad.mit.edu	37	chr10	73544812	73544812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgcacgcctcaccttcaaCatcactgcgggcaaccgcga	8	16	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:73544812C>A	uc001jrx.3	+	41	6044	c.5667C>A	c.(5665-5667)AAC>AAA	p.N1889K		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1889	Cadherin 18.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCACCTTCAACATCACTGCGG	0.582													A	73544812	C	A	73544812	3	1	168	1	0	0	0	0	1	0	0	0	3108	477	17	5	6178	5	CDH23	10	73544812	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	40063555	73544812	61989935	309	92385											
CDH23	64072	broad.mit.edu	37	chr10	73553038	73553038	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaggaccgcttcctcaTtcatctggtcaccggggtca	11	14	6	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:73553038T>A	uc001jrx.3	+	46	6730	c.6353T>A	c.(6352-6354)ATT>AAT	p.I2118N	CDH23_uc001jsg.3_5'Flank|CDH23_uc001jsh.3_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2118	Cadherin 20.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CGCTTCCTCATTCATCTGGTC	0.587													A	73553038	T	A	73553038	3	1	168	1	0	0	0	0	1	0	0	0	3108	1493	52	5	6884	5	CDH23	10	73553038	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	8226	73553038	61981709	310	92386											
DNAJB12	54788	broad.mit.edu	37	chr10	74098034	74098034	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacacgagaatcaggatgagGataggcatcagctgcacaaa	12	8	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:74098034G>T	uc010qjv.1	-	6	1011	c.861C>A	c.(859-861)ATC>ATA	p.I287I	DNAJB12_uc001jsz.2_Silent_p.I287I|DNAJB12_uc001jta.2_Silent_p.I287I	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	253	Helical; (Potential).				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						TCAGGATGAGGATAGGCATCA	0.587													T	74098034	G	T	74098034	2	4	168	1	0	0	0	0	0	0	0	1	4617	1164	41	5		5	DNAJB12	10	74098034	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	544996	74098034	61436713	311	92387											
KIF11	3832	broad.mit.edu	37	chr10	94405294	94405294	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggaaaaaatatctcaagaGactgaacagagatgtgaatc	9	6	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:94405294G>C	uc001kic.2	+	18	2750	c.2442G>C	c.(2440-2442)GAG>GAC	p.E814D	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	814					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			skin(1)	1						TATCTCAAGAGACTGAACAGA	0.353													C	94405294	G	C	94405294	3	2	168	1	0	0	0	0	1	0	0	0	8272	933	33	5	2512	5	KIF11	10	94405294	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	20307260	94405294	41129453	312	92388											
TCTN3	26123	broad.mit.edu	37	chr10	97423868	97423868	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtagtaagaggcacaGgataaggatgggagagactg	15	5	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:97423868G>C	uc001klb.3	-	14	2024	c.1780C>G	c.(1780-1782)CTG>GTG	p.L594V	TCTN3_uc001kla.3_Missense_Mutation_p.L438V|TCTN3_uc010qoi.1_Missense_Mutation_p.L446V	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	594	Helical; (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AAGAGGCACAGGATAAGGATG	0.423													C	97423868	G	C	97423868	3	2	168	1	0	0	0	0	1	0	0	0	15721	991	35	5	47	5	TCTN3	10	97423868	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3018574	97423868	38110879	313	92389											
ABCC2	1244	broad.mit.edu	37	chr10	101565153	101565153	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcaggtcaaaaatatgaaGaataaagacaaacgtttaaa	8	4	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:101565153G>A	uc001kqf.2	+	11	1618	c.1479G>A	c.(1477-1479)AAG>AAA	p.K493K		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	493	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		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)	AAAATATGAAGAATAAAGACA	0.423													A	101565153	G	A	101565153	2	1	168	1	0	0	0	0	0	0	0	1	53	933	33	4		4	ABCC2	10	101565153	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4141285	101565153	33969594	314	92390											
ARL3	403	broad.mit.edu	37	chr10	104459163	104459163	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaaaataattcttccaGtatggtctgattttcctctg	5	8	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:104459163G>C	uc001kwa.2	-	3	389	c.231C>G	c.(229-231)TAC>TAG	p.Y77*		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	77					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		AATTCTTCCAGTATGGTCTGA	0.363													C	104459163	G	C	104459163	4	2	168	1	0	0	0	0	0	1	0	0	935	1024	36	5	333	5	ARL3	10	104459163	Nonsense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2894010	104459163	31075584	315	92391											
NEURL	9148	broad.mit.edu	37	chr10	105331527	105331527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccgcacggccgacccGctctgggccctggtggacgt	17	15	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:105331527G>A	uc001kxh.2	+	3	1007	c.597G>A	c.(595-597)CCG>CCA	p.P199P		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	199	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGGCCGACCCGCTCTGGGCCC	0.662													A	105331527	G	A	105331527	2	1	168	1	0	0	0	0	0	0	0	1	10345	1074	38	1		1	NEURL	10	105331527	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	872364	105331527	30203220	316	92392											
SORCS3	22986	broad.mit.edu	37	chr10	107016591	107016591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagctccattggtggacTccagtgctgggcacagcagc	12	13	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:107016591T>C	uc001kyi.1	+	25	3579	c.3352T>C	c.(3352-3354)TCC>CCC	p.S1118P		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1118	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		ATTGGTGGACTCCAGTGCTGG	0.448													C	107016591	T	C	107016591	3	2	168	1	0	0	0	0	1	0	0	0	14932	1551	54	3	3450	3	SORCS3	10	107016591	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1685064	107016591	28518156	317	92393											
MKI67	4288	broad.mit.edu	37	chr10	129908757	129908757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatgtgcttgtcaactgCggttgctccttcactggggt	12	10	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:129908757C>T	uc001lke.2	-	12	2496	c.2301G>A	c.(2299-2301)CCG>CCA	p.P767P	MKI67_uc001lkf.2_Silent_p.P407P|MKI67_uc009yav.1_Silent_p.P342P|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	767					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TTGTCAACTGCGGTTGCTCCT	0.403													T	129908757	C	T	129908757	2	4	168	1	0	0	0	0	0	0	0	1	9598	755	27	1		1	MKI67	10	129908757	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	22892166	129908757	5625990	318	92394											
GPR123	84435	broad.mit.edu	37	chr10	134896275	134896275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgacagaaccctgtgccGtccccctgtaagcctggatg	12	15	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr10:134896275G>A	uc001llw.2	+	7	1287	c.1287G>A	c.(1285-1287)CCG>CCA	p.P429P				Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	Error:Variant_position_missing_in_Q86SQ6_after_alignment						integral to membrane|plasma membrane	G-protein coupled receptor activity				0		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)		ACCCTGTGCCGTCCCCCTGTA	0.667													A	134896275	G	A	134896275	2	1	168	1	0	0	0	0	0	0	0	1	6637	1160	40	1		1	GPR123	10	134896275	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4987518	134896275	638472	319	92395											
UBQLN3	50613	broad.mit.edu	37	chr11	5529220	5529220	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctcaatctgccgcagGgcttgcagggcacgggggtt	15	13	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:5529220G>C	uc001may.1	-	2	1655	c.1569C>G	c.(1567-1569)GCC>GCG	p.A523A	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	523										ovary(3)	3		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)		TCTGCCGCAGGGCTTGCAGGG	0.582													C	5529220	G	C	5529220	2	2	168	1	0	0	0	0	0	0	0	1	16895	1219	43	5		5	UBQLN3	11	5529220	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08		5529220	129477296	320	92396											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5656043	5656043	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagttggtgagagagctcatCtcagatgtggagtgtcggag	16	6	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:5656043C>T	uc001mbf.2	+	10	2008	c.1764C>T	c.(1762-1764)ATC>ATT	p.I588I	HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Silent_p.I234I|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Silent_p.I234I|TRIM34_uc001mbj.2_Silent_p.I234I	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	588						intracellular	zinc ion binding			ovary(1)	1		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)		GAGAGCTCATCTCAGATGTGG	0.488													T	5656043	C	T	5656043	2	4	168	1	0	0	0	0	0	0	0	1	16531	903	32	4		4	TRIM6-TRIM34	11	5656043	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	126823	5656043	129350473	321	92397											
OR52N5	390075	broad.mit.edu	37	chr11	5798936	5798956	+	In_Frame_Del	DEL	CGTATCTGTTTTGTCTTTACT	CGTATCTGTTTTGTCTTTACT	-													agaactttatgacactcttgCgtatctgttttgtctttact							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:5798935_5798955GCGTATCTGTTTTGTCTTTACT>G	uc010qzn.2	-	0	943_963	c.910_930AGTAAAGACAAAACAGATACGC>C	c.(910-930)gtaaagacaaaacagatacgc>C	p.VKTKQIR304del	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	304					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)		TGACACTCTTGCGTATCTGTTTTGTCTTTACTCCATAAACA	0.389													-	5798956	CGTATCTGTTTTGTCTTTACT	-	5798936	7	5	168	1	0	1	0	1	0	0	0	0	11130	768	27	0	49	0	OR52N5	11	5798936	In_Frame_Del	DEL	CGTATCTGTTTTGTCTTTACT	TCGA-CG-4437-01A-01D-1800-08	142893	5798936	129207580	322	92398											
NLRP10	338322	broad.mit.edu	37	chr11	7982669	7982669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaactaaggatggggccaGtgagggcttttcccctgaat	12	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:7982669G>A	uc001mfv.1	-	2	507	c.490C>T	c.(490-492)CTG>TTG	p.L164L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	164							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGGGGCCAGTGAGGGCTTT	0.577													A	7982669	G	A	7982669	2	1	168	1	0	0	0	0	0	0	0	1	10472	1020	36	4		4	NLRP10	11	7982669	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2183733	7982669	127023847	323	92399											
AMPD3	272	broad.mit.edu	37	chr11	10516557	10516557	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaactatctgggaggagagTactttgctcggatggtcaag	13	6	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:10516557T>G	uc001mio.1	+	8	1581	c.1246T>G	c.(1246-1248)TAC>GAC	p.Y416D	AMPD3_uc010rbz.1_Missense_Mutation_p.Y257D|AMPD3_uc001min.1_Missense_Mutation_p.Y425D|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.Y423D|AMPD3_uc009yfy.2_Missense_Mutation_p.Y416D	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	416					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGGAGGAGAGTACTTTGCTCG	0.532													G	10516557	T	G	10516557	3	3	168	1	0	0	0	0	1	0	0	0	587	1638	57	5	1323	5	AMPD3	11	10516557	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2533888	10516557	124489959	324	92400											
GALNTL4	374378	broad.mit.edu	37	chr11	11398919	11398919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgcgggtgagtacagGttcagccctgggcagagagg	17	8	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:11398919G>C	uc001mjo.2	-	5	1208	c.787C>G	c.(787-789)CCT>GCT	p.P263A		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	263	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTGAGTACAGGTTCAGCCCTG	0.507													C	11398919	G	C	11398919	3	2	168	1	0	0	0	0	1	0	0	0	6223	1261	44	5	1064	5	GALNTL4	11	11398919	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	882362	11398919	123607597	325	92401											
SOX6	55553	broad.mit.edu	37	chr11	15994530	15994530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggatgaccgggaggctgGgctccgggctggccgaggtg	20	10	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:15994530G>T	uc001mme.2	-	16	2384	c.2351C>A	c.(2350-2352)CCC>CAC	p.P784H	SOX6_uc001mmd.2_Missense_Mutation_p.P747H|SOX6_uc001mmf.2_Missense_Mutation_p.P744H|SOX6_uc001mmg.2_Missense_Mutation_p.P751H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	771					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						CGGGAGGCTGGGCTCCGGGCT	0.512													T	15994530	G	T	15994530	3	4	168	1	0	0	0	0	1	0	0	0	14955	1232	43	5	178	5	SOX6	11	15994530	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4595611	15994530	119011986	326	92402											
SLC5A12	159963	broad.mit.edu	37	chr11	26708084	26708084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtacacatcacgccaaaTaagagacctgaaagaaagaa	9	8	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:26708084T>C	uc001mra.2	-	10	1474	c.1161A>G	c.(1159-1161)TTA>TTG	p.L387L	SLC5A12_uc001mrb.2_RNA	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	387	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TCACGCCAAATAAGAGACCTG	0.448													C	26708084	T	C	26708084	2	2	168	1	0	0	0	0	0	0	0	1	14664	1403	49	3		3	SLC5A12	11	26708084	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	10713554	26708084	108298432	327	92403											
CAPRIN1	4076	broad.mit.edu	37	chr11	34112103	34112103	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctttaaatacagaccagActacagcatcatcatccctt	3	13	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:34112103A>C	uc001mvh.1	+	14	1621	c.1432A>C	c.(1432-1434)ACT>CCT	p.T478P	CAPRIN1_uc001mvg.2_Missense_Mutation_p.T478P|CAPRIN1_uc001mvi.2_Missense_Mutation_p.T478P|CAPRIN1_uc001mvj.1_Missense_Mutation_p.T397P	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	478					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			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TACAGACCAGACTACAGCATC	0.408													C	34112103	A	C	34112103	3	2	168	1	0	0	0	0	1	0	0	0	2635	275	10	5	1482	5	CAPRIN1	11	34112103	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	7404019	34112103	100894413	328	92404											
PRDM11	56981	broad.mit.edu	37	chr11	45204573	45204573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactagtggagagagtgacGtgcgatgtgtaaacgaggtc	15	6	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:45204573G>A	uc001myo.2	+	5	736	c.487G>A	c.(487-489)GTG>ATG	p.V163M		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	163	SET.									upper_aerodigestive_tract(1)	1						AGAGAGTGACGTGCGATGTGT	0.607													A	45204573	G	A	45204573	3	1	168	1	0	0	0	0	1	0	0	0	12452	1145	40	1	501	1	PRDM11	11	45204573	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	11092470	45204573	89801943	329	92405											
PSMC3	5702	broad.mit.edu	37	chr11	47446159	47446159	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgctgagccacgctcaccTgtcgtgtagaggttttgatc	11	10	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:47446159T>G	uc001nfh.2	-	4	583	c.389A>C	c.(388-390)CAG>CCG	p.Q130P	PSMC3_uc009ylr.1_Missense_Mutation_p.Q88P	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	130					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 complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACGCTCACCTGTCGTGTAGA	0.552													G	47446159	T	G	47446159	3	3	168	1	0	0	0	0	1	0	0	0	12687	1594	55	5	966	5	PSMC3	11	47446159	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2241586	47446159	87560357	330	92406											
AGBL2	79841	broad.mit.edu	37	chr11	47712177	47712177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttgttcttgtagtacTtgatttcatttccttctctc	6	10	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:47712177T>C	uc001ngg.2	-	9	1182	c.1082A>G	c.(1081-1083)AAG>AGG	p.K361R	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.K323R|AGBL2_uc001ngh.1_Missense_Mutation_p.K305R	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	361					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						CTTGTAGTACTTGATTTCATT	0.473													C	47712177	T	C	47712177	3	2	168	1	0	0	0	0	1	0	0	0	376	1609	56	3	1666	3	AGBL2	11	47712177	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	266018	47712177	87294339	331	92407											
OR4A15	81328	broad.mit.edu	37	chr11	55135745	55135745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggttgtatggctcaacTttttatggatcatttatttg	9	5	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:55135745T>C	uc010rif.1	+	1	386	c.386T>C	c.(385-387)CTT>CCT	p.L129P		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	129	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATGGCTCAACTTTTTATGGAT	0.398													C	55135745	T	C	55135745	3	2	168	1	0	0	0	0	1	0	0	0	11040	1609	56	3	388	3	OR4A15	11	55135745	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	7423568	55135745	79870771	332	92408											
OR4C15	81309	broad.mit.edu	37	chr11	55322517	55322517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgcctgcactgatacTcacatctttggcctcatggt	9	12	3	1	rs145900465		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:55322517T>C	uc010rig.1	+	1	735	c.735T>C	c.(733-735)ACT>ACC	p.T245T		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCACTGATACTCACATCTTTG	0.438										HNSCC(20;0.049)			C	55322517	T	C	55322517	2	2	168	1	0	0	0	0	0	0	0	1	11048	1538	54	3		3	OR4C15	11	55322517	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	186772	55322517	79683999	333	92409											
OR8H1	219469	broad.mit.edu	37	chr11	56058115	56058115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagggcccagtgacaagagCgcaacacagccttttggaca	11	11	0	2	rs142532321		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:56058115C>T	uc010rje.1	-	1	424	c.424G>A	c.(424-426)GCT>ACT	p.A142T		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GTGACAAGAGCGCAACACAGC	0.443													T	56058115	C	T	56058115	3	4	168	1	0	0	0	0	1	0	0	0	11237	768	27	1	513	1	OR8H1	11	56058115	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	735598	56058115	78948401	334	92410											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077309	57077309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccactgctgtagtccCttatccaagcgctcttccca	6	17	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:57077309C>T	uc001njr.2	-	5	3188	c.2876G>A	c.(2875-2877)AGG>AAG	p.R959K	TNKS1BP1_uc001njs.2_Missense_Mutation_p.R959K|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R410K	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	959	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GCTGTAGTCCCTTATCCAAGC	0.602													T	57077309	C	T	57077309	3	4	168	1	0	0	0	0	1	0	0	0	16317	681	24	4	2337	4	TNKS1BP1	11	57077309	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1019194	57077309	77929207	335	92411											
CTNND1	1500	broad.mit.edu	37	chr11	57569651	57569662	+	In_Frame_Del	DEL	TTACTGAAGTTA	TTACTGAAGTTA	-													aaaggctcgtgatatggaccTtactgaagttattaccggtg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:57569650_57569661CTTACTGAAGTTA>C	uc001nmc.4	+	6	1973_1984	c.1402_1413CTTACTGAAGTTA>C	c.(1402-1413)cttactgaagtt>C	p.LTEV468del	CTNND1_uc001nlf.2_In_Frame_Del_p.LTEV468del|CTNND1_uc021qjk.1_In_Frame_Del_p.LTEV468del|CTNND1_uc001nlh.1_In_Frame_Del_p.LTEV468del|CTNND1_uc001nlj.4_In_Frame_Del_p.LTEV414del|CTNND1_uc001nlq.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nlr.4_In_Frame_Del_p.LTEV414del|CTNND1_uc001nln.4_In_Frame_Del_p.LTEV468del|CTNND1_uc001nli.4_In_Frame_Del_p.LTEV468del|CTNND1_uc001nlo.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nlp.4_In_Frame_Del_p.LTEV414del|CTNND1_uc001nlu.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nlt.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nlv.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nls.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nlw.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nmf.4_In_Frame_Del_p.LTEV468del|CTNND1_uc001nlx.4_In_Frame_Del_p.LTEV145del|CTNND1_uc001nlz.4_In_Frame_Del_p.LTEV145del|CTNND1_uc009ymn.3_In_Frame_Del_p.LTEV145del|CTNND1_uc001nly.4_In_Frame_Del_p.LTEV145del|CTNND1_uc001nmb.4_In_Frame_Del_p.LTEV145del|CTNND1_uc001nma.4_In_Frame_Del_p.LTEV145del|CTNND1_uc001nmd.4_In_Frame_Del_p.LTEV414del|CTNND1_uc001nlk.4_In_Frame_Del_p.LTEV414del|CTNND1_uc001nme.4_In_Frame_Del_p.LTEV468del|CTNND1_uc001nll.4_In_Frame_Del_p.LTEV414del|CTNND1_uc001nlm.4_In_Frame_Del_p.LTEV468del|CTNND1_uc001nmi.4_In_Frame_Del_p.LTEV367del|CTNND1_uc001nmg.4_In_Frame_Del_p.LTEV414del|CTNND1_uc001nmh.4_In_Frame_Del_p.LTEV468del	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	468					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	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)				TGATATGGACCTTACTGAAGTTATTACCGGTG	0.425													-	57569662	TTACTGAAGTTA	-	57569651	7	5	168	1	0	1	0	1	0	0	0	0	4019	1609	56	0	1421	0	CTNND1	11	57569651	In_Frame_Del	DEL	TTACTGAAGTTA	TCGA-CG-4437-01A-01D-1800-08	492342	57569651	77436865	336	92412											
OR5B3	441608	broad.mit.edu	37	chr11	58170549	58170549	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataggccattgaggccaagaGgtaattttccacagtggcaa	11	8	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:58170549G>C	uc010rkf.1	-	1	334	c.334C>G	c.(334-336)CTC>GTC	p.L112V		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGGCCAAGAGGTAATTTTCC	0.463													C	58170549	G	C	58170549	3	2	168	1	0	0	0	0	1	0	0	0	11152	1000	35	5	612	5	OR5B3	11	58170549	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	600898	58170549	76835967	337	92413											
EML3	256364	broad.mit.edu	37	chr11	62374527	62374527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgagaatgtctccatcCggaaggaacacaaagcaagg	11	10	1	1	rs149158420		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:62374527C>T	uc001ntu.1	-	12	1715	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P	EML3_uc001ntr.1_Silent_p.P441P|EML3_uc001nts.1_Silent_p.P441P|EML3_uc001ntt.1_Silent_p.P353P|EML3_uc010rly.1_Silent_p.P469P|EML3_uc009yny.1_Silent_p.P252P	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	469	WD 4.					cytoplasm|microtubule	protein binding			ovary(1)	1						TGTCTCCATCCGGAAGGAACA	0.522													T	62374527	C	T	62374527	2	4	168	1	0	0	0	0	0	0	0	1	5098	639	23	1		1	EML3	11	62374527	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4203978	62374527	72631989	338	92414											
RTN3	10313	broad.mit.edu	37	chr11	63517497	63517497	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctggagagatgtgaagaaGactgggtttgtctttggcac	14	5	2	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:63517497G>C	uc001nxq.2	+	4	2752	c.2565G>C	c.(2563-2565)AAG>AAC	p.K855N	RTN3_uc001nxo.2_Missense_Mutation_p.K59N|RTN3_uc001nxm.2_Missense_Mutation_p.K78N|RTN3_uc001nxn.2_Missense_Mutation_p.K836N|RTN3_uc001nxp.2_Missense_Mutation_p.K59N|RTN3_uc009yov.2_Missense_Mutation_p.K743N|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Missense_Mutation_p.K59N	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	855	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				ovary(1)	1						ATGTGAAGAAGACTGGGTTTG	0.443													C	63517497	G	C	63517497	3	2	168	1	0	0	0	0	1	0	0	0	13727	933	33	5	2579	5	RTN3	11	63517497	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1142970	63517497	71489019	339	92415											
RASGRP2	10235	broad.mit.edu	37	chr11	64504226	64504226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccccctgctcctcaccGtgagcaggctcagcaggtcg	11	18	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:64504226G>A	uc009ypu.2	-	9	1321	c.1094C>T	c.(1093-1095)ACG>ATG	p.T365M	RASGRP2_uc001oat.2_Missense_Mutation_p.T267M|RASGRP2_uc001oau.2_Missense_Mutation_p.T220M|RASGRP2_uc009ypv.2_Missense_Mutation_p.T365M|RASGRP2_uc009ypw.2_Missense_Mutation_p.T365M	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	365	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						GCTCCTCACCGTGAGCAGGCT	0.662													A	64504226	G	A	64504226	3	1	168	1	0	0	0	0	1	0	0	0	13075	1159	40	1	767	1	RASGRP2	11	64504226	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	986729	64504226	70502290	340	92416											
ATG2A	23130	broad.mit.edu	37	chr11	64673264	64673264	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcaggatggtgatgacCgtcgggggcaggtagcccag	19	8	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:64673264C>A	uc001obx.2	-	23	3436	c.3321G>T	c.(3319-3321)ACG>ACT	p.T1107T	ATG2A_uc001obw.2_5'Flank	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1107							protein binding			ovary(1)|central_nervous_system(1)	2						TGGTGATGACCGTCGGGGGCA	0.617													A	64673264	C	A	64673264	2	1	168	1	0	0	0	0	0	0	0	1	1093	639	23	5		5	ATG2A	11	64673264	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	169038	64673264	70333252	341	92417											
SNX32	254122	broad.mit.edu	37	chr11	65617469	65617469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggctgcatgatgccTacgtggagaatgaggagtac	13	8	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:65617469T>C	uc001ofr.2	+	3	347	c.220T>C	c.(220-222)TAC>CAC	p.Y74H	SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.Y74H	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	74	PX.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		GCATGATGCCTACGTGGAGAA	0.627													C	65617469	T	C	65617469	3	2	168	1	0	0	0	0	1	0	0	0	14902	1522	53	3	230	3	SNX32	11	65617469	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	944205	65617469	69389047	342	92418											
SNX32	254122	broad.mit.edu	37	chr11	65620002	65620002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgctgaggtactacatgCgtgactcacaggcagccaag	11	11	1	2	rs137872295		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:65620002C>T	uc001ofr.2	+	10	1019	c.892C>T	c.(892-894)CGT>TGT	p.R298C		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	298	Potential.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		GTACTACATGCGTGACTCACA	0.627													T	65620002	C	T	65620002	3	4	168	1	0	0	0	0	1	0	0	0	14902	768	27	1	930	1	SNX32	11	65620002	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2533	65620002	69386514	343	92419											
RBM4B	83759	broad.mit.edu	37	chr11	66444180	66444180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctgatggcctccactGcatcctctgcccgctccatg	9	19	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:66444180G>A	uc001oja.2	-	1	1040	c.371C>T	c.(370-372)GCA>GTA	p.A124V	RBM4B_uc001ojb.2_Missense_Mutation_p.A124V	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	124	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						GGCCTCCACTGCATCCTCTGC	0.537													A	66444180	G	A	66444180	3	1	168	1	0	0	0	0	1	0	0	0	13142	1319	46	2	716	2	RBM4B	11	66444180	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	824178	66444180	68562336	344	92420											
NUMA1	4926	broad.mit.edu	37	chr11	71724269	71724269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagctggccttctctgccCgcagctgctgagctgttcgc	11	15	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:71724269C>T	uc001orl.1	-	15	4452	c.4280G>A	c.(4279-4281)CGG>CAG	p.R1427Q	NUMA1_uc009ysw.1_Missense_Mutation_p.R990Q|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R1427Q|NUMA1_uc001orn.2_Missense_Mutation_p.R990Q|NUMA1_uc009ysx.1_Missense_Mutation_p.R1427Q|NUMA1_uc001oro.1_Missense_Mutation_p.R1427Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1427	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CTTCTCTGCCCGCAGCTGCTG	0.662			T	RARA	APL								T	71724269	C	T	71724269	3	4	168	1	0	0	0	0	1	0	0	0	10750	652	23	1	2119	1	NUMA1	11	71724269	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	5280089	71724269	63282247	345	92421											
NUMA1	4926	broad.mit.edu	37	chr11	71727513	71727513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggttatcctgcagctgggAcaagtgttcttccagctgtg	13	9	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:71727513A>G	uc001orl.1	-	14	1355	c.1183T>C	c.(1183-1185)TCC>CCC	p.S395P	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.S395P|NUMA1_uc001orm.1_Missense_Mutation_p.S395P|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.S395P|NUMA1_uc001oro.1_Missense_Mutation_p.S395P	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	395	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TGCAGCTGGGACAAGTGTTCT	0.517			T	RARA	APL								G	71727513	A	G	71727513	3	3	168	1	0	0	0	0	1	0	0	0	10750	275	10	3	5220	3	NUMA1	11	71727513	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	3244	71727513	63279003	346	92422											
CLPB	81570	broad.mit.edu	37	chr11	72006684	72006684	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcttcccttttccatctgtCagccggccctgggaagggaa	11	13	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:72006684C>T	uc001osj.2	-	13	1478	c.1428G>A	c.(1426-1428)CTG>CTA	p.L476L	CLPB_uc010rqx.1_Silent_p.L431L|CLPB_uc010rqy.1_Silent_p.L417L|CLPB_uc001osk.2_Silent_p.L446L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Silent_p.L275L|CLPB_uc001osi.2_Silent_p.L84L	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	476					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						TTCCATCTGTCAGCCGGCCCT	0.453													T	72006684	C	T	72006684	2	4	168	1	0	0	0	0	0	0	0	1	3551	813	29	4		4	CLPB	11	72006684	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	279171	72006684	62999832	347	92423											
PDE2A	5138	broad.mit.edu	37	chr11	72295356	72295356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcggccacaccgatgacCtctggggaagggagaggggc	17	11	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:72295356C>T	uc010rrc.1	-	19	1782	c.1539G>A	c.(1537-1539)GAG>GAA	p.E513E	PDE2A_uc001oso.2_Silent_p.E492E|PDE2A_uc010rra.1_Silent_p.E506E|PDE2A_uc001osn.2_Silent_p.E257E|PDE2A_uc010rrb.1_Silent_p.E504E|PDE2A_uc010rrd.1_Silent_p.E398E	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	513	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CACCGATGACCTCTGGGGAAG	0.627													T	72295356	C	T	72295356	2	4	168	1	0	0	0	0	0	0	0	1	11636	695	24	4		4	PDE2A	11	72295356	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	288672	72295356	62711160	348	92424											
RNF169	254225	broad.mit.edu	37	chr11	74545757	74545757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaggagtcagagctgTagtgacacagcccaggaaag	15	7	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:74545757T>C	uc001ovl.3	+	5	892	c.879T>C	c.(877-879)TGT>TGC	p.C293C	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	293							zinc ion binding			ovary(1)	1						GTCAGAGCTGTAGTGACACAG	0.458													C	74545757	T	C	74545757	2	2	168	1	0	0	0	0	0	0	0	1	13460	1644	57	3		3	RNF169	11	74545757	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2250401	74545757	60460759	349	92425											
SLCO2B1	11309	broad.mit.edu	37	chr11	74876911	74876911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaatgattggctatggggCtatccttgtggccctggcgg	15	10	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:74876911C>A	uc001owb.2	+	4	752	c.365C>A	c.(364-366)GCT>GAT	p.A122D	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Missense_Mutation_p.A6D|SLCO2B1_uc001owc.2_Missense_Mutation_p.A6D|SLCO2B1_uc001owd.2_Missense_Mutation_p.A100D	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	122	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	GGCTATGGGGCTATCCTTGTG	0.592													A	74876911	C	A	74876911	3	1	168	1	0	0	0	0	1	0	0	0	14727	797	28	5	379	5	SLCO2B1	11	74876911	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	331154	74876911	60129605	350	92426											
RSF1	51773	broad.mit.edu	37	chr11	77412830	77412830	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttccatttccctccgTgatgatatttctgtccttag	6	12	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:77412830T>G	uc001oyn.2	-	6	1564	c.1444A>C	c.(1444-1446)ACG>CCG	p.T482P	RSF1_uc001oym.2_Missense_Mutation_p.T230P	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	482					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			ovary(2)|central_nervous_system(2)	4	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)			TTTCCCTCCGTGATGATATTT	0.398													G	77412830	T	G	77412830	3	3	168	1	0	0	0	0	1	0	0	0	13699	1696	59	5	2925	5	RSF1	11	77412830	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2535919	77412830	57593686	351	92427											
NDUFC2	4718	broad.mit.edu	37	chr11	77784130	77784130	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggtagtcttcacgttttAcaagataatatccagcaaaa	6	8	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:77784130A>C	uc009yuw.2	-	2	699	c.224T>G	c.(223-225)GTA>GGA	p.V75G		NM_004549	NP_004540	O95298	NDUC2_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex	75	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		Carvedilol(DB01136)|NADH(DB00157)	TTCACGTTTTACAAGATAATA	0.353													C	77784130	A	C	77784130	3	2	168	1	0	0	0	0	1	0	0	0	10290	391	14	5	143	5	NDUFC2	11	77784130	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	371300	77784130	57222386	352	92428											
CCDC83	220047	broad.mit.edu	37	chr11	85593584	85593592	+	In_Frame_Del	DEL	GGCACATAC	GGCACATAC	-													cttaaaagaagaacagatttGgcacatacggcatctactaa							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:85593583_85593591TGGCACATAC>T	uc001pbg.1	+	3	720_728	c.208_216TGGCACATAC>T	c.(208-216)tggcacata>T	p.WHI70del	CCDC83_uc001pbh.1_In_Frame_Del_p.WHI70del|CCDC83_uc001pbj.1_In_Frame_Del_p.WHI27del|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	70										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAACAGATTTGGCACATACGGCATCTAC	0.388													-	85593592	GGCACATAC	-	85593584	7	5	168	1	0	1	0	1	0	0	0	0	2857	1357	47	0	219	0	CCDC83	11	85593584	In_Frame_Del	DEL	GGCACATAC	TCGA-CG-4437-01A-01D-1800-08	7809454	85593584	49412932	353	92429											
TAF1D	79101	broad.mit.edu	37	chr11	93469351	93469351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcaggcctctctgtccAgtatttttggcttttgtagc	8	9	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:93469351A>G	uc001ped.2	-	6	1015	c.813T>C	c.(811-813)ACT>ACC	p.T271T	SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_Intron|SNORD5_uc009ywf.1_5'Flank|SNORA18_uc009ywg.1_5'Flank|MIR1304_hsa-mir-1304|MI0006371_5'Flank|SNORA40_uc009ywh.2_5'Flank	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CTCTCTGTCCAGTATTTTTGG	0.353													G	93469351	A	G	93469351	2	3	168	1	0	0	0	0	0	0	0	1	15519	175	7	3		3	TAF1D	11	93469351	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	7875767	93469351	41537165	354	92430											
TAF1D	79101	broad.mit.edu	37	chr11	93469380	93469380	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttgtagctctcttttTagacaaagcagcttcttcag	8	9	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:93469380T>A	uc001ped.2	-	6	986	c.784A>T	c.(784-786)AAA>TAA	p.K262*	SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_Intron|SNORD5_uc009ywf.1_5'Flank|SNORA18_uc009ywg.1_5'Flank|MIR1304_hsa-mir-1304|MI0006371_5'Flank|SNORA40_uc009ywh.2_5'Flank	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						GCTCTCTTTTTAGACAAAGCA	0.373													A	93469380	T	A	93469380	4	1	168	1	0	0	0	0	0	1	0	0	15519	1763	61	5	56	5	TAF1D	11	93469380	Nonsense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	29	93469380	41537136	355	92431											
FUT4	2526	broad.mit.edu	37	chr11	94277451	94277451	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgggcggtgcccggttgggCgtcctggccagctcaccttg	16	14	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:94277451C>G	uc001pez.2	+	1	435	c.152C>G	c.(151-153)GCG>GGG	p.A51G	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	fucosyltransferase 4	51	Cytoplasmic (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			skin(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCGGTTGGGCGTCCTGGCCA	0.761													G	94277451	C	G	94277451	3	3	168	1	0	0	0	0	1	0	0	0	6106	768	27	5	154	5	FUT4	11	94277451	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	808071	94277451	40729065	356	92432											
DDI1	414301	broad.mit.edu	37	chr11	103908451	103908451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacacagagaattattggcCgtgttcatctagctcagatt	9	9	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:103908451C>A	uc001phr.2	+	1	1144	c.901C>A	c.(901-903)CGT>AGT	p.R301S	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	301					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		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)		AATTATTGGCCGTGTTCATCT	0.483													A	103908451	C	A	103908451	3	1	168	1	0	0	0	0	1	0	0	0	4328	652	23	5	903	5	DDI1	11	103908451	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	9631000	103908451	31098065	357	92433											
NPAT	4863	broad.mit.edu	37	chr11	108047806	108047806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatagcttcttcagacatGtgaatttcactctgcaagaa	7	8	4	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:108047806G>T	uc001pjz.3	-	11	1020	c.918C>A	c.(916-918)CAC>CAA	p.H306Q	NPAT_uc001pka.2_Missense_Mutation_p.H101Q	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	306	Mediates transcriptional activation.|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			ovary(2)	2		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)		CTTCAGACATGTGAATTTCAC	0.313													T	108047806	G	T	108047806	3	4	168	1	0	0	0	0	1	0	0	0	10566	1368	48	5	3397	5	NPAT	11	108047806	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4139355	108047806	26958710	358	92434											
ZBTB16	7704	broad.mit.edu	37	chr11	114057740	114057740	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaggatgccctggagaCacacaggcagacccatactg	13	11	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:114057740C>G	uc001pop.2	+	4	1697	c.1433C>G	c.(1432-1434)ACA>AGA	p.T478R	ZBTB16_uc001poo.1_Missense_Mutation_p.T478R|ZBTB16_uc001poq.2_Missense_Mutation_p.T478R	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	478	C2H2-type 3.				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)|skin(1)	2		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)		GCCCTGGAGACACACAGGCAG	0.522													G	114057740	C	G	114057740	3	3	168	1	0	0	0	0	1	0	0	0	17523	478	17	5	1443	5	ZBTB16	11	114057740	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6009934	114057740	20948776	359	92435											
FAM55D	54827	broad.mit.edu	37	chr11	114453606	114453606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatctgctgatctagTttctctatgatttcctttat	9	7	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:114453606T>C	uc001ppc.2	-	3	415	c.234A>G	c.(232-234)AAA>AAG	p.K78K	FAM55D_uc001ppd.2_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	78						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GCTGATCTAGTTTCTCTATGA	0.463													C	114453606	T	C	114453606	2	2	168	1	0	0	0	0	0	0	0	1	5587	1722	60	3		3	FAM55D	11	114453606	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	395866	114453606	20552910	360	92436											
MFRP	83552	broad.mit.edu	37	chr11	119217082	119217082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaggattgcagaactcGgtctggaagggggagatact	16	6	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:119217082G>A	uc001pwj.2	-	2	217	c.57C>T	c.(55-57)ACC>ACT	p.T19T	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.T19T	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGCAGAACTCGGTCTGGAAGG	0.592													A	119217082	G	A	119217082	2	1	168	1	0	0	0	0	0	0	0	1	9526	1103	39	1		1	MFRP	11	119217082	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4763476	119217082	15789434	361	92437											
OR8D4	338662	broad.mit.edu	37	chr11	123778075	123778075	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaagaaaaatatctttatctCcaggataaatatgctcttta	5	6	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:123778075C>G	uc010saa.1	+	1	937	c.937C>G	c.(937-939)CCA>GCA	p.P313A		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		ATCTTTATCTCCAGGATAAAT	0.269													G	123778075	C	G	123778075	3	3	168	1	0	0	0	0	1	0	0	0	11233	855	30	5	939	5	OR8D4	11	123778075	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4560993	123778075	11228441	362	92438											
VWA5A	4013	broad.mit.edu	37	chr11	124012317	124012317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcaggttttcgaaaggCcttacactctgaccgtcctc	7	12	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr11:124012317C>T	uc001pzu.2	+	16	2101	c.1892C>T	c.(1891-1893)GCC>GTC	p.A631V	VWA5A_uc001pzt.2_Missense_Mutation_p.A631V	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	631										upper_aerodigestive_tract(1)|ovary(1)	2						TTTCGAAAGGCCTTACACTCT	0.463													T	124012317	C	T	124012317	3	4	168	1	0	0	0	0	1	0	0	0	17239	739	26	2	1950	2	VWA5A	11	124012317	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	234242	124012317	10994199	363	92439											
B4GALNT3	283358	broad.mit.edu	37	chr12	659023	659023	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaacgctcttcccagggaTgagcagccgcccgctgacat	10	16	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:659023T>C	uc001qii.1	+	10	942	c.942T>C	c.(940-942)GAT>GAC	p.D314D	B4GALNT3_uc001qij.1_Silent_p.D216D|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	314	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	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)			TTCCCAGGGATGAGCAGCCGC	0.642													C	659023	T	C	659023	2	2	168	1	0	0	0	0	0	0	0	1	1268	1461	51	3		3	B4GALNT3	12	659023	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08		659023	133192872	364	92440											
CACNA1C	775	broad.mit.edu	37	chr12	2800085	2800085	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgatttcagaaggacTggggcagtttgctcaagatc	13	7	3	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:2800085T>G	uc009zdu.1	+	50	6699	c.6386T>G	c.(6385-6387)CTG>CGG	p.L2129R	CACNA1C_uc009zdv.1_Missense_Mutation_p.L2043R|CACNA1C_uc001qkb.2_Missense_Mutation_p.L2046R|CACNA1C_uc001qkc.2_Missense_Mutation_p.L2065R|CACNA1C_uc001qke.2_Missense_Mutation_p.L2035R|CACNA1C_uc001qkf.2_Missense_Mutation_p.L2054R|CACNA1C_uc001qjz.2_Missense_Mutation_p.L2046R|CACNA1C_uc001qkd.2_Missense_Mutation_p.L2065R|CACNA1C_uc001qkg.2_Missense_Mutation_p.L2052R|CACNA1C_uc009zdw.1_Missense_Mutation_p.L2087R|CACNA1C_uc001qkh.2_Missense_Mutation_p.L2054R|CACNA1C_uc001qkl.2_Missense_Mutation_p.L2094R|CACNA1C_uc001qkn.2_Missense_Mutation_p.L2046R|CACNA1C_uc001qko.2_Missense_Mutation_p.L2066R|CACNA1C_uc001qkp.2_Missense_Mutation_p.L2046R|CACNA1C_uc001qkr.2_Missense_Mutation_p.L2063R|CACNA1C_uc001qku.2_Missense_Mutation_p.L2081R|CACNA1C_uc001qkq.2_Missense_Mutation_p.L2074R|CACNA1C_uc001qks.2_Missense_Mutation_p.L2046R|CACNA1C_uc001qkt.2_Missense_Mutation_p.L2065R|CACNA1C_uc001qki.1_Missense_Mutation_p.L1853R|CACNA1C_uc001qkj.1_Missense_Mutation_p.L1817R|CACNA1C_uc001qkk.1_Missense_Mutation_p.L1782R|CACNA1C_uc001qkm.1_Missense_Mutation_p.L1842R|CACNA1C_uc010sea.1_Missense_Mutation_p.L737R|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Missense_Mutation_p.L364R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2129	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	TCAGAAGGACTGGGGCAGTTT	0.582													G	2800085	T	G	2800085	3	3	168	1	0	0	0	0	1	0	0	0	2540	1580	55	5	7032	5	CACNA1C	12	2800085	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2141062	2800085	131051810	365	92441											
FGF6	2251	broad.mit.edu	37	chr12	4554416	4554416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttctcctcgtgggtcccGctgatccggccgtcggggag	17	13	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:4554416G>A	uc001qmr.1	-	1	365	c.321C>T	c.(319-321)AGC>AGT	p.S107S		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	107					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CGTGGGTCCCGCTGATCCGGC	0.637													A	4554416	G	A	4554416	2	1	168	1	0	0	0	0	0	0	0	1	5856	1078	38	1		1	FGF6	12	4554416	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1754331	4554416	129297479	366	92442											
SLC2A3	6515	broad.mit.edu	37	chr12	8083958	8083958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaacctgtgcagagtccGcagaagaggccaataaccaa	9	11	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:8083958G>A	uc001qtr.2	-	4	655	c.393C>T	c.(391-393)TGC>TGT	p.C131C	SLC2A3_uc001qts.2_Silent_p.C131C	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	131	Helical; Name=4; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TGCAGAGTCCGCAGAAGAGGC	0.537													A	8083958	G	A	8083958	2	1	168	1	0	0	0	0	0	0	0	1	14545	1079	38	1		1	SLC2A3	12	8083958	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3529542	8083958	125767937	367	92443											
CLEC6A	93978	broad.mit.edu	37	chr12	8610506	8610506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggacagagaaaagaggctGgttgtccctgagactctggt	14	7	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:8610506G>T	uc001qum.1	+	2	161	c.44G>T	c.(43-45)TGG>TTG	p.W15L		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	15	Cytoplasmic (Potential).				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)	1	Lung SC(5;0.184)					AAAAGAGGCTGGTTGTCCCTG	0.488													T	8610506	G	T	8610506	3	4	168	1	0	0	0	0	1	0	0	0	3520	1357	47	5	50	5	CLEC6A	12	8610506	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	526548	8610506	125241389	368	92444											
TAS2R30	259293	broad.mit.edu	37	chr12	11286388	11286388	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatattcttttgtccatacAgtctcatccatgtttatcac	3	11	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:11286388A>C	uc009zhs.1	-	1	456	c.456T>G	c.(454-456)ACT>ACG	p.T152T	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_001097643	NP_001091112			type 2 taste receptor member 30												0						TTGTCCATACAGTCTCATCCA	0.378													C	11286388	A	C	11286388	2	2	168	1	0	0	0	0	0	0	0	1	15570	175	7	5		5	TAS2R30	12	11286388	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2675882	11286388	122565507	369	92445											
PIK3C2G	5288	broad.mit.edu	37	chr12	18544106	18544106	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaaacctgattctgaagaGaatagaagtaatcttgaaga	9	4	2	7			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:18544106G>C	uc001rdt.2	+	14	2039	c.1923G>C	c.(1921-1923)GAG>GAC	p.E641D	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E682D|PIK3C2G_uc010sic.1_Missense_Mutation_p.E460D	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	641					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			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				ATTCTGAAGAGAATAGAAGTA	0.378													C	18544106	G	C	18544106	3	2	168	1	0	0	0	0	1	0	0	0	11911	933	33	5	1973	5	PIK3C2G	12	18544106	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	7257718	18544106	115307789	370	92446											
SYT10	341359	broad.mit.edu	37	chr12	33560234	33560234	+	Frame_Shift_Del	DEL	A	A	-													acaggttctgtgcccatgctAaaatcaacactggaaacctg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:33560233_33560233TA>T	uc001rll.1	-	2	865	c.568_568TA>A	c.(568-570)agcfs	p.S190fs	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	190						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTGCCCATGCTAAAATCAACA	0.453													-	33560234	A	-	33560234	7	5	168	1	0	1	0	1	0	0	0	0	15463	359	13	0	1024	0	SYT10	12	33560234	Frame_Shift_Del	DEL	A	TCGA-CG-4437-01A-01D-1800-08	15016128	33560234	100291661	371	92447											
KCNH3	23416	broad.mit.edu	37	chr12	49949443	49949443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggcgacaatacccttatgtCcacgctggaggagaaggaga	13	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:49949443C>A	uc001ruh.1	+	12	2437	c.2177C>A	c.(2176-2178)TCC>TAC	p.S726Y	KCNH3_uc010smj.1_Missense_Mutation_p.S666Y	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	726	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						ACCCTTATGTCCACGCTGGAG	0.627													A	49949443	C	A	49949443	3	1	168	1	0	0	0	0	1	0	0	0	8033	855	30	5	2223	5	KCNH3	12	49949443	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	16389209	49949443	83902452	372	92448											
KRT81	3887	broad.mit.edu	37	chr12	52681408	52681408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcattctccacctcggccGtcagcctttggatcatgcgg	11	14	3	0	rs34187924	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:52681408G>A	uc001sab.2	-	6	1048	c.998C>T	c.(997-999)ACG>ATG	p.T333M	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	333	Rod.|Coil 2.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCTCGGCCGTCAGCCTTTG	0.592													A	52681408	G	A	52681408	3	1	168	1	0	0	0	0	1	0	0	0	8495	1145	40	1	535	1	KRT81	12	52681408	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2731965	52681408	81170487	373	92449											
KRT4	3851	broad.mit.edu	37	chr12	53207397	53207397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtcgatgaaggagGcaaacttgttgttgaggagc	13	7	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:53207397G>A	uc001saz.2	-	1	939	c.668C>T	c.(667-669)GCC>GTC	p.A223V		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	149						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						GATGAAGGAGGCAAACTTGTT	0.582													A	53207397	G	A	53207397	3	1	168	1	0	0	0	0	1	0	0	0	8477	1203	42	2	1152	2	KRT4	12	53207397	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	525989	53207397	80644498	374	92450											
CSAD	51380	broad.mit.edu	37	chr12	53567221	53567221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacagccactgggtcccCagcaagggaggggagtgctt	14	12	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:53567221C>T	uc001sby.2	-	3	160	c.34G>A	c.(34-36)GGG>AGG	p.G12R	CSAD_uc001sbw.2_Missense_Mutation_p.G12R|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.G39R|CSAD_uc001sbz.2_Missense_Mutation_p.G12R|CSAD_uc009zmu.2_Missense_Mutation_p.G12R|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.G12R	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	12					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ACTGGGTCCCCAGCAAGGGAG	0.587									Hereditary_Prostate_Cancer				T	53567221	C	T	53567221	3	4	168	1	0	0	0	0	1	0	0	0	3925	594	21	4	1503	4	CSAD	12	53567221	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	359824	53567221	80284674	375	92451											
COPZ1	22818	broad.mit.edu	37	chr12	54743432	54743432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccccttacggagcagaCcgtgtctcaggtatgactct	10	13	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:54743432C>A	uc001sfs.1	+	8	513	c.476C>A	c.(475-477)ACC>AAC	p.T159N	COPZ1_uc001sft.2_Missense_Mutation_p.T108N|COPZ1_uc009znm.1_Missense_Mutation_p.T167N|COPZ1_uc010sot.1_Missense_Mutation_p.T136N	NM_016057	NP_057141	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	159					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol					0						ACGGAGCAGACCGTGTCTCAG	0.483													A	54743432	C	A	54743432	3	1	168	1	0	0	0	0	1	0	0	0	3741	507	18	5	506	5	COPZ1	12	54743432	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1176211	54743432	79108463	376	92452											
KIAA0748	9840	broad.mit.edu	37	chr12	55356846	55356846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttccgaaggcggtctctgGgtgactggggttcaggctct	15	10	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:55356846G>T	uc001sgn.3	-	9	946	c.836C>A	c.(835-837)CCC>CAC	p.P279H	KIAA0748_uc001sgl.3_Missense_Mutation_p.P141H|KIAA0748_uc001sgm.3_Missense_Mutation_p.P26H|KIAA0748_uc010spb.1_Missense_Mutation_p.P26H|KIAA0748_uc010spc.1_Missense_Mutation_p.P141H|KIAA0748_uc010spd.1_Missense_Mutation_p.P279H|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	279										ovary(1)|central_nervous_system(1)	2						GCGGTCTCTGGGTGACTGGGG	0.547													T	55356846	G	T	55356846	3	4	168	1	0	0	0	0	1	0	0	0	8190	1232	43	5	737	5	KIAA0748	12	55356846	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	613414	55356846	78495049	377	92453											
ATP5B	506	broad.mit.edu	37	chr12	57036523	57036523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacatcttgaccttcttgGtctctgaagtattcagccac	7	11	4	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:57036523G>A	uc001slr.2	-	6	990	c.885C>T	c.(883-885)GAC>GAT	p.D295D		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	295					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			ovary(1)	1						GACCTTCTTGGTCTCTGAAGT	0.498													A	57036523	G	A	57036523	2	1	168	1	0	0	0	0	0	0	0	1	1148	1252	44	4		4	ATP5B	12	57036523	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1679677	57036523	76815372	378	92454											
LRIG3	121227	broad.mit.edu	37	chr12	59270290	59270296	+	Frame_Shift_Del	DEL	TTCCACT	TTCCACT	-													tgtgacaaactggtggtggcTtccactttctgaagacacgt							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:59270289_59270295CTTCCACT>C	uc001sqr.3	-	15	2873_2879	c.2627_2633AGTGGAAG>G	c.(2626-2634)agtggaagcfs	p.S876fs	LRIG3_uc009zqh.3_Frame_Shift_Del_p.S816fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	876						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)			CTGGTGGTGGCTTCCACTTTCTGAAGA	0.42			T	ROS1	NSCLC								-	59270296	TTCCACT	-	59270290	7	5	168	1	0	1	0	1	0	0	0	0	8946	1609	56	0	743	0	LRIG3	12	59270290	Frame_Shift_Del	DEL	TTCCACT	TCGA-CG-4437-01A-01D-1800-08	2233767	59270290	74581605	379	92455											
PTPRB	5787	broad.mit.edu	37	chr12	70949667	70949667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacggtctatcattgtgataGtgctgtcttcaaccacctcg	8	11	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:70949667G>T	uc001swb.3	-	17	4352	c.4322C>A	c.(4321-4323)ACT>AAT	p.T1441N	PTPRB_uc010sto.1_Missense_Mutation_p.T1351N|PTPRB_uc010stp.1_Missense_Mutation_p.T1351N|PTPRB_uc001swc.3_Missense_Mutation_p.T1659N|PTPRB_uc001swa.3_Missense_Mutation_p.T1571N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1441	Fibronectin type-III 16.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			CATTGTGATAGTGCTGTCTTC	0.527													T	70949667	G	T	70949667	3	4	168	1	0	0	0	0	1	0	0	0	12796	1029	36	5	1735	5	PTPRB	12	70949667	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	11679377	70949667	62902228	380	92456											
PTPRB	5787	broad.mit.edu	37	chr12	70974915	70974915	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgagagagtggaagcTgtatctgctggtctcactgg	15	7	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:70974915T>A	uc001swb.3	-	8	1855	c.1825A>T	c.(1825-1827)AGC>TGC	p.S609C	PTPRB_uc010sto.1_Missense_Mutation_p.S609C|PTPRB_uc010stp.1_Missense_Mutation_p.S519C|PTPRB_uc001swc.3_Missense_Mutation_p.S827C|PTPRB_uc001swa.3_Missense_Mutation_p.S827C|PTPRB_uc001swd.3_Missense_Mutation_p.S826C|PTPRB_uc009zrr.1_Missense_Mutation_p.S706C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	609	Fibronectin type-III 7.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			GAGTGGAAGCTGTATCTGCTG	0.488													A	70974915	T	A	70974915	3	1	168	1	0	0	0	0	1	0	0	0	12796	1580	55	5	4268	5	PTPRB	12	70974915	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	25248	70974915	62876980	381	92457											
PPFIA2	8499	broad.mit.edu	37	chr12	82147870	82147870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaagggtgtctagaagaCgatccctttcatctagcata	9	11	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:82147870C>T	uc001szo.1	-	3	292	c.131G>A	c.(130-132)CGT>CAT	p.R44H	PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(3)|lung(2)|pancreas(1)	6						GTCTAGAAGACGATCCCTTTC	0.532													T	82147870	C	T	82147870	3	4	168	1	0	0	0	0	1	0	0	0	12310	536	19	1	3762	1	PPFIA2	12	82147870	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	11172955	82147870	51704025	382	92458											
C12orf51	283450	broad.mit.edu	37	chr12	112621028	112621028	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcaagtcattattgttaaAtaaacttgctcgaattttct	4	6	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:112621028A>T	uc009zwc.2	-	55	9574	c.9556T>A	c.(9556-9558)TTT>ATT	p.F3186I		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTATTGTTAAATAAACTTGCT	0.378													T	112621028	A	T	112621028	3	4	168	1	0	0	0	0	1	0	0	0	1696	101	4	5	2494	5	C12orf51	12	112621028	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	30473158	112621028	21230867	383	92459											
KSR2	283455	broad.mit.edu	37	chr12	117993048	117993048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggtggcttccgtagagGgttgttgatgtcacacggaa	16	7	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:117993048G>A	uc001two.2	-	9	1412	c.1357C>T	c.(1357-1359)CCT>TCT	p.P453S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	482					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCGTAGAGGGTTGTTGATG	0.493													A	117993048	G	A	117993048	3	1	168	1	0	0	0	0	1	0	0	0	8582	1232	43	4	1456	4	KSR2	12	117993048	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	5372020	117993048	15858847	384	92460											
WSB2	55884	broad.mit.edu	37	chr12	118480940	118480940	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagccaggaatgacctacctGtctgcacctcccagatcttg	8	15	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:118480940G>C	uc001twr.2	-	3	523	c.425C>G	c.(424-426)ACA>AGA	p.T142R	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.T142R	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	142	WD 1.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGACCTACCTGTCTGCACCTC	0.602													C	118480940	G	C	118480940	3	2	168	1	0	0	0	0	1	0	0	0	17402	1377	48	5	817	5	WSB2	12	118480940	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	487892	118480940	15370955	385	92461											
CIT	11113	broad.mit.edu	37	chr12	120128120	120128120	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggagacttgtccctgcgcaGctcggtccgcccctcgcggt	13	16	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:120128120G>C	uc001txi.1	-	46	5949	c.5896C>G	c.(5896-5898)CTG>GTG	p.L1966V	CIT_uc001txh.1_Missense_Mutation_p.L1484V|CIT_uc001txj.1_Missense_Mutation_p.L2008V	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1966					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCTGCGCAGCTCGGTCCGC	0.726													C	120128120	G	C	120128120	3	2	168	1	0	0	0	0	1	0	0	0	3438	962	34	5	195	5	CIT	12	120128120	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1647180	120128120	13723775	386	92462											
P2RX7	5027	broad.mit.edu	37	chr12	121622455	121622455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaacagccggctgcgGcactgtgcctacaggtgcta	11	15	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:121622455G>A	uc001tzm.2	+	13	1734	c.1638G>A	c.(1636-1638)CGG>CGA	p.R546R	P2RX7_uc001tzn.2_Silent_p.R456R|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Silent_p.R257R|P2RX7_uc001tzq.2_Silent_p.R376R	NM_002562	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X7	546						integral to membrane	ATP binding|ion channel activity|receptor activity			large_intestine(2)|lung(1)|breast(1)|skin(1)	5	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCGGCTGCGGCACTGTGCCT	0.632													A	121622455	G	A	121622455	2	1	168	1	0	0	0	0	0	0	0	1	11345	1190	42	2		2	P2RX7	12	121622455	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1494335	121622455	12229440	387	92463											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958648	122958648	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgtcctcatccacagctccaGatgctgttctggtctggggt	11	13	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:122958648G>T	uc001ucn.2	-	14	1651	c.1520C>A	c.(1519-1521)TCT>TAT	p.S507Y	ZCCHC8_uc001ucl.2_Missense_Mutation_p.S118Y|ZCCHC8_uc001ucm.2_Missense_Mutation_p.S269Y|ZCCHC8_uc009zxp.2_Missense_Mutation_p.S269Y|ZCCHC8_uc009zxq.2_Missense_Mutation_p.S269Y	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	507						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	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)		CACAGCTCCAGATGCTGTTCT	0.612													T	122958648	G	T	122958648	3	4	168	1	0	0	0	0	1	0	0	0	17591	942	33	5	607	5	ZCCHC8	12	122958648	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1336193	122958648	10893247	388	92464											
DNAH10	196385	broad.mit.edu	37	chr12	124352050	124352050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagtctctttgagaagTatgtgccctatctcatggat	9	7	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:124352050T>C	uc001uft.3	+	41	6875	c.6850T>C	c.(6850-6852)TAT>CAT	p.Y2284H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2284	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		CTTTGAGAAGTATGTGCCCTA	0.373													C	124352050	T	C	124352050	3	2	168	1	0	0	0	0	1	0	0	0	4598	1638	57	3	7012	3	DNAH10	12	124352050	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1393402	124352050	9499845	389	92465											
TMEM132D	121256	broad.mit.edu	37	chr12	129558601	129558601	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attttacccttttcctttttGaggtaggggatgttgggggc	13	6	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:129558601G>C	uc009zyl.1	-	9	3447	c.3119C>G	c.(3118-3120)TCA>TGA	p.S1040*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.S578*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1040	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		TTTCCTTTTTGAGGTAGGGGA	0.483													C	129558601	G	C	129558601	4	2	168	1	0	0	0	0	0	1	0	0	16044	1294	45	5	184	5	TMEM132D	12	129558601	Nonsense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	5206551	129558601	4293294	390	92466											
RIMBP2	23504	broad.mit.edu	37	chr12	130892274	130892274	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgtttggctggtacctcGacatcgacgttgggcgagct	14	10	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:130892274G>A	uc001uil.2	-	16	3086	c.2922C>T	c.(2920-2922)GTC>GTT	p.V974V		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	974	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		CTGGTACCTCGACATCGACGT	0.567													A	130892274	G	A	130892274	2	1	168	1	0	0	0	0	0	0	0	1	13363	1045	37	1		1	RIMBP2	12	130892274	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1333673	130892274	2959621	391	92467											
STX2	2054	broad.mit.edu	37	chr12	131286027	131286027	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctcgtcgtctgtggtggttCtcccagctgaaagacccgca	12	13	2	2	rs74523053		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:131286027C>G	uc001uio.2	-	7	637	c.470G>C	c.(469-471)AGA>ACA	p.R157T	STX2_uc001uip.2_Missense_Mutation_p.R157T|STX2_uc010tbj.1_Missense_Mutation_p.R157T	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	157	Cytoplasmic (Potential).				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				0	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)		TGTGGTGGTTCTCCCAGCTGA	0.517													G	131286027	C	G	131286027	3	3	168	1	0	0	0	0	1	0	0	0	15344	913	32	5	494	5	STX2	12	131286027	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	393753	131286027	2565868	392	92468											
ULK1	8408	broad.mit.edu	37	chr12	132394492	132394492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagacctcggccccgctgCggcagctgctcctggcccta	14	17	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:132394492C>T	uc001uje.2	+	10	1022	c.754C>T	c.(754-756)CGG>TGG	p.R252W		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	252	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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		GGCCCCGCTGCGGCAGCTGCT	0.716													T	132394492	C	T	132394492	3	4	168	1	0	0	0	0	1	0	0	0	16972	759	27	1	792	1	ULK1	12	132394492	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1108465	132394492	1457403	393	92469											
GALNT9	50614	broad.mit.edu	37	chr12	132681779	132681779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcagcggcccgtggccCggctcacaatggggccactc	14	17	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr12:132681779C>G	uc001ukc.3	-	11	1801	c.1685G>C	c.(1684-1686)CGG>CCG	p.R562P	GALNT9_uc009zyr.2_Missense_Mutation_p.R336P|GALNT9_uc001ukb.2_Missense_Mutation_p.R419P|GALNT9_uc001uka.2_Missense_Mutation_p.R196P	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	562	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	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)		GCCCGTGGCCCGGCTCACAAT	0.637													G	132681779	C	G	132681779	3	3	168	1	0	0	0	0	1	0	0	0	6220	652	23	5	130	5	GALNT9	12	132681779	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	287287	132681779	1170116	394	92470											
ATP12A	479	broad.mit.edu	37	chr13	25281425	25281425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcctaggtcgcctgAtctttgacaacctcaagaag	8	13	3	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:25281425A>G	uc001upp.2	+	17	2534	c.2347A>G	c.(2347-2349)ATC>GTC	p.I783V	ATP12A_uc010aaa.2_Missense_Mutation_p.I789V	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	783	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGGTCGCCTGATCTTTGACAA	0.537													G	25281425	A	G	25281425	3	3	168	1	0	0	0	0	1	0	0	0	1122	333	12	3	2431	3	ATP12A	13	25281425	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08		25281425	89888453	395	92471											
PABPC3	5042	broad.mit.edu	37	chr13	25671743	25671743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcacaggttccacgAgtcatgtcaacgcagcgtgt	10	12	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:25671743A>G	uc001upy.2	+	1	1468	c.1407A>G	c.(1405-1407)CGA>CGG	p.R469R		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	469					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		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)		AGGTTCCACGAGTCATGTCAA	0.428													G	25671743	A	G	25671743	2	3	168	1	0	0	0	0	0	0	0	1	11365	291	11	3		3	PABPC3	13	25671743	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	390318	25671743	89498135	396	92472											
SLC7A1	6541	broad.mit.edu	37	chr13	30109978	30109978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtaggagaggattaaGttccagccggtgatgaaggc	15	5	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:30109978G>A	uc001uso.2	-	3	735	c.348C>T	c.(346-348)AAC>AAT	p.N116N		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	116	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAGGATTAAGTTCCAGCCGG	0.572													A	30109978	G	A	30109978	2	1	168	1	0	0	0	0	0	0	0	1	14692	1020	36	4		4	SLC7A1	13	30109978	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4438235	30109978	85059900	397	92473											
TRPC4	7223	broad.mit.edu	37	chr13	38237650	38237650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caattgatttaggccatttgCaaatgctagcaacacaaggc	8	9	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:38237650C>A	uc001uws.2	-	6	1826	c.1591G>T	c.(1591-1593)GCA>TCA	p.A531S	TRPC4_uc010abv.2_Missense_Mutation_p.A111S|TRPC4_uc001uwt.2_Missense_Mutation_p.A531S|TRPC4_uc010tey.1_Missense_Mutation_p.A531S|TRPC4_uc010abw.2_Missense_Mutation_p.A358S|TRPC4_uc010abx.2_Missense_Mutation_p.A531S|TRPC4_uc010aby.2_Missense_Mutation_p.A531S	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	531	Helical; (Potential).				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			ovary(3)|skin(2)|breast(1)	6				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)		AGGCCATTTGCAAATGCTAGC	0.378													A	38237650	C	A	38237650	3	1	168	1	0	0	0	0	1	0	0	0	16577	710	25	5	1381	5	TRPC4	13	38237650	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	8127672	38237650	76932228	398	92474											
SLC25A15	10166	broad.mit.edu	37	chr13	41383755	41383755	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatggagcactctttttggcCtacgaatatagcaggaagtt	10	7	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:41383755C>G	uc001uxn.2	+	7	1180	c.858C>G	c.(856-858)GCC>GCG	p.A286A	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Silent_p.A192A|SUGT1L1_uc001uxo.1_5'Flank|MIR621_hsa-mir-621|MI0003635_5'Flank	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	286	Solcar 3.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TCTTTTTGGCCTACGAATATA	0.453													G	41383755	C	G	41383755	2	3	168	1	0	0	0	0	0	0	0	1	14477	668	24	5		5	SLC25A15	13	41383755	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3146105	41383755	73786123	399	92475											
KBTBD7	84078	broad.mit.edu	37	chr13	41766424	41766437	+	Frame_Shift_Del	DEL	CCTGACTCAGAGTC	CCTGACTCAGAGTC	-													ctgaaaaagaacttgaacttCctgactcagagtccagctca							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:41766423_41766436TCCTGACTCAGAGTC>T	uc001uxw.1	-	0	2267_2280	c.1958_1971GACTCTGAGTCAGGA>A	c.(1957-1971)gactctgagtcaggafs	p.D653fs	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	653							protein binding	p.E655*(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AACTTGAACTTCCTGACTCAGAGTCCAGCTCACT	0.444													-	41766437	CCTGACTCAGAGTC	-	41766424	7	5	168	1	0	1	0	1	0	0	0	0	7998	855	30	0	88	0	KBTBD7	13	41766424	Frame_Shift_Del	DEL	CCTGACTCAGAGTC	TCGA-CG-4437-01A-01D-1800-08	382669	41766424	73403454	400	92476											
NUFIP1	26747	broad.mit.edu	37	chr13	45533532	45533532	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttaccagaatcactgtttatCaaaacaccaagaggatctgc	6	10	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:45533532C>G	uc001uzp.2	-	7	1047	c.1005G>C	c.(1003-1005)TTG>TTC	p.L335F		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	335					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				0		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)		CACTGTTTATCAAAACACCAA	0.403													G	45533532	C	G	45533532	3	3	168	1	0	0	0	0	1	0	0	0	10748	825	29	5	498	5	NUFIP1	13	45533532	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3767108	45533532	69636346	401	92477											
C13orf18	80183	broad.mit.edu	37	chr13	46930568	46930568	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccattatccgtacttactAggctctactggagttccaca	6	12	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:46930568A>C	uc010acl.2	-	10	1934	c.1329T>G	c.(1327-1329)CCT>CCG	p.P443P	C13orf18_uc001vbf.3_Silent_p.P376P|C13orf18_uc001vbg.3_Silent_p.P171P|C13orf18_uc010tfz.1_Silent_p.P286P|C13orf18_uc010acm.2_Silent_p.P308P|C13orf18_uc010acn.2_Silent_p.P228P|C13orf18_uc001vbe.3_Silent_p.P443P|C13orf18_uc001vbh.3_Silent_p.P443P|C13orf18_uc001vbi.3_Silent_p.P286P|C13orf18_uc010aco.1_Silent_p.P443P	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	443											0		Lung NSC(96;2.31e-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;2.19e-05)		CGTACTTACTAGGCTCTACTG	0.458													C	46930568	A	C	46930568	2	2	168	1	0	0	0	0	0	0	0	1	1720	434	15	5		5	C13orf18	13	46930568	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1397036	46930568	68239310	402	92478											
THSD1	55901	broad.mit.edu	37	chr13	52972273	52972273	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccacatacactgtgtcgtTgcttagtgctacatggcctg	9	11	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:52972273T>A	uc001vgo.2	-	3	660	c.115A>T	c.(115-117)AAC>TAC	p.N39Y	THSD1_uc001vgp.2_Missense_Mutation_p.N39Y|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	39	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		ACTGTGTCGTTGCTTAGTGCT	0.433													A	52972273	T	A	52972273	3	1	168	1	0	0	0	0	1	0	0	0	15874	1812	63	5	2455	5	THSD1	13	52972273	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	6041705	52972273	62197605	403	92479											
LECT1	11061	broad.mit.edu	37	chr13	53298169	53298169	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttggtcacggcgcccAcctcaggaatacgagccttc	10	14	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:53298169A>C	uc001vhf.2	-	4	542	c.431T>G	c.(430-432)GTG>GGG	p.V144G	LECT1_uc001vhg.2_Missense_Mutation_p.V144G|LECT1_uc001vhh.2_Intron	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	144	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CACGGCGCCCACCTCAGGAAT	0.493													C	53298169	A	C	53298169	3	2	168	1	0	0	0	0	1	0	0	0	8712	159	6	5	589	5	LECT1	13	53298169	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	325896	53298169	61871709	404	92480											
PCDH20	64881	broad.mit.edu	37	chr13	61987872	61987872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtccccgggaggccagGctgaaggagagaggggggtt	19	9	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:61987872G>A	uc001vid.3	-	2	724	c.360C>T	c.(358-360)AGC>AGT	p.S120S	PCDH20_uc010thj.1_Silent_p.S120S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	93	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGAGGCCAGGCTGAAGGAGA	0.672													A	61987872	G	A	61987872	2	1	168	1	0	0	0	0	0	0	0	1	11515	1194	42	2		2	PCDH20	13	61987872	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	8689703	61987872	53182006	405	92481											
KLHL1	57626	broad.mit.edu	37	chr13	70681469	70681469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctctagtgactccacGtagaagagagtcctggctgg	11	12	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:70681469G>A	uc001vip.2	-	1	1157	c.363C>T	c.(361-363)TAC>TAT	p.Y121Y	KLHL1_uc010thm.1_Silent_p.Y121Y|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	121					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGACTCCACGTAGAAGAGAG	0.577													A	70681469	G	A	70681469	2	1	168	1	0	0	0	0	0	0	0	1	8365	1140	40	1		1	KLHL1	13	70681469	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	8693597	70681469	44488409	406	92482											
SLITRK6	84189	broad.mit.edu	37	chr13	86369359	86369359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaccaaggaacatgcCtttacttaatttggtcaggt	10	7	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:86369359C>T	uc001vll.1	-	2	1744	c.1285G>A	c.(1285-1287)GGC>AGC	p.G429S	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	429	Extracellular (Potential).|LRR 8.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGGAACATGCCTTTACTTAAT	0.338													T	86369359	C	T	86369359	3	4	168	1	0	0	0	0	1	0	0	0	14747	681	24	4	1244	4	SLITRK6	13	86369359	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	15687890	86369359	28800519	407	92483											
TM9SF2	9375	broad.mit.edu	37	chr13	100181797	100181816	+	Frame_Shift_Del	DEL	AAAAGTTAGAATTCTTGAAA	AAAAGTTAGAATTCTTGAAA	-													agagaaagctgaagacaaacAaaagttagaattcttgaaaa					rs11545979		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:100181796_100181815CAAAAGTTAGAATTCTTGAAA>C	uc001voj.1	+	3	542_561	c.409_428CAAAAGTTAGAATTCTTGAAA>C	c.(409-429)caaaagttagaattcttgaaafs	p.Q137fs	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	137					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)					TGAAGACAAACAAAAGTTAGAATTCTTGAAAAAAAGCATG	0.318													-	100181816	AAAAGTTAGAATTCTTGAAA	-	100181797	7	5	168	1	0	1	0	1	0	0	0	0	15975	130	5	0	424	0	TM9SF2	13	100181797	Frame_Shift_Del	DEL	AAAAGTTAGAATTCTTGAAA	TCGA-CG-4437-01A-01D-1800-08	13812438	100181797	14988081	408	92484											
COL4A1	1282	broad.mit.edu	37	chr13	110815821	110815821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaacctaccagtaggcccgGcaggtcccatctctcctttc	8	17	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr13:110815821G>T	uc001vqw.3	-	47	4360	c.4238C>A	c.(4237-4239)GCC>GAC	p.A1413D	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1413	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			AGTAGGCCCGGCAGGTCCCAT	0.542													T	110815821	G	T	110815821	3	4	168	1	0	0	0	0	1	0	0	0	3689	1203	42	5	795	5	COL4A1	13	110815821	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	10634024	110815821	4354057	409	92485											
SUPT16H	11198	broad.mit.edu	37	chr14	21829373	21829373	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttgatgctcggtatgtaCtgcagaaaagcaacagcatt	9	7	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:21829373C>T	uc001wao.2	-	16	2133	c.1794_splice	c.e16-1	p.I598_splice	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation						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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCGGTATGTACTGCAGAAAAG	0.378													T	21829373	C	T	21829373	5	4	168	1	0	0	0	0	0	0	1	0	15393	579	20	4	1394	4	SUPT16H	14	21829373	Splice_Site	SNP	C	TCGA-CG-4437-01A-01D-1800-08		21829373	85520167	410	92486											
MMP14	4323	broad.mit.edu	37	chr14	23311122	23311132	+	Splice_Site	DEL	GGCCATGAGGC	GGCCATGAGGC	-													cgcacccaaacccactccagGgccatgaggcgcccccgatg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:23311121_23311131GGGCCATGAGGC>G	uc001whc.3	+	3	492	c.258_splice	c.e3-1	p.K86_splice		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	86						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)		ACCCACTCCAGGGCCATGAGGCGCCCCCGAT	0.531													-	23311132	GGCCATGAGGC	-	23311122	8	5	168	1	0	1	0	1	0	0	1	0	9653	1246	43	0	268	0	MMP14	14	23311122	Splice_Site	DEL	GGCCATGAGGC	TCGA-CG-4437-01A-01D-1800-08	1481749	23311122	84038418	411	92487											
ACIN1	22985	broad.mit.edu	37	chr14	23531679	23531679	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggcctcttccaccaaGgttcctgtgcgccccaacaa	8	16	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:23531679G>T	uc001wit.3	-	15	3439	c.3111C>A	c.(3109-3111)ACC>ACA	p.T1037T	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.T279T|ACIN1_uc001wiq.3_Silent_p.T279T|ACIN1_uc001wir.3_Silent_p.T310T|ACIN1_uc001wis.3_Silent_p.T718T|ACIN1_uc010akg.2_Silent_p.T1024T	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1037					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTTCCACCAAGGTTCCTGTGC	0.468													T	23531679	G	T	23531679	2	4	168	1	0	0	0	0	0	0	0	1	142	987	35	5		5	ACIN1	14	23531679	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	220557	23531679	83817861	412	92488											
NFATC4	4776	broad.mit.edu	37	chr14	24842993	24842993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaaaaacacacgtgtacGgctggtgttccgggtacacg	13	11	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:24842993G>A	uc001wpc.2	+	5	1973	c.1652G>A	c.(1651-1653)CGG>CAG	p.R551Q	NFATC4_uc010tok.1_Missense_Mutation_p.R614Q|NFATC4_uc010tol.1_Missense_Mutation_p.R614Q|NFATC4_uc010alr.2_Missense_Mutation_p.R614Q|NFATC4_uc010als.2_Missense_Mutation_p.R564Q|NFATC4_uc010tom.1_Missense_Mutation_p.R564Q|NFATC4_uc010ton.1_Missense_Mutation_p.R564Q|NFATC4_uc010too.1_Missense_Mutation_p.R564Q|NFATC4_uc010alt.2_Missense_Mutation_p.R583Q|NFATC4_uc010top.1_Missense_Mutation_p.R583Q|NFATC4_uc010toq.1_Missense_Mutation_p.R583Q|NFATC4_uc010alu.2_Missense_Mutation_p.R243Q|NFATC4_uc010tor.1_Missense_Mutation_p.R551Q|NFATC4_uc010tos.1_Missense_Mutation_p.R481Q|NFATC4_uc010tot.1_Missense_Mutation_p.R539Q|NFATC4_uc010tou.1_Missense_Mutation_p.R481Q|NFATC4_uc010tov.1_Missense_Mutation_p.R539Q|NFATC4_uc010tow.1_Missense_Mutation_p.R481Q|NFATC4_uc010alv.2_Missense_Mutation_p.R539Q|NFATC4_uc010tox.1_Missense_Mutation_p.R481Q|NFATC4_uc001wpd.2_Missense_Mutation_p.R86Q|NFATC4_uc010toy.1_Missense_Mutation_p.R86Q|NFATC4_uc010toz.1_Missense_Mutation_p.R86Q|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	551	RHD.				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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ACACGTGTACGGCTGGTGTTC	0.607													A	24842993	G	A	24842993	3	1	168	1	0	0	0	0	1	0	0	0	10365	1116	39	1	1863	1	NFATC4	14	24842993	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1311314	24842993	82506547	413	92489											
FOXG1	2290	broad.mit.edu	37	chr14	29237640	29237640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacggccgccgcgctagcCgcctcggtgccctgcggcct	13	20	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:29237640C>T	uc001wqe.2	+	1	1354	c.1155C>T	c.(1153-1155)GCC>GCT	p.A385A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	385	Interaction with KDM5B.			A -> T (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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCGCGCTAGCCGCCTCGGTGC	0.677													T	29237640	C	T	29237640	2	4	168	1	0	0	0	0	0	0	0	1	6007	639	23	1		1	FOXG1	14	29237640	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4394647	29237640	78111900	414	92490											
SNX6	58533	broad.mit.edu	37	chr14	35036958	35036958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgcagcaactcttctTgtcttaaaatctataagttc	5	9	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:35036958T>C	uc001wsf.1	-	13	1145	c.1137A>G	c.(1135-1137)ACA>ACG	p.T379T	SNX6_uc001wse.1_Silent_p.T251T|SNX6_uc010tpm.1_Silent_p.T255T	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	367					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAACTCTTCTTGTCTTAAAAT	0.279													C	35036958	T	C	35036958	2	2	168	1	0	0	0	0	0	0	0	1	14906	1799	63	3		3	SNX6	14	35036958	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	5799318	35036958	72312582	415	92491											
PELI2	57161	broad.mit.edu	37	chr14	56757161	56757161	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccaggtcggcccagcAacgaggaaagctggtgagtg	15	9	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:56757161A>C	uc001xch.2	+	5	969	c.683A>C	c.(682-684)CAA>CCA	p.Q228P		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	228					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			ovary(1)	1						TCGGCCCAGCAACGAGGAAAG	0.557													C	56757161	A	C	56757161	3	2	168	1	0	0	0	0	1	0	0	0	11722	130	5	5	701	5	PELI2	14	56757161	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	21720203	56757161	50592379	416	92492											
SLC38A6	145389	broad.mit.edu	37	chr14	61449344	61449344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttggctaataccggtgTctttggatttaggtgagtct	12	5	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:61449344T>G	uc001xfg.1	+	2	340	c.224T>G	c.(223-225)GTC>GGC	p.V75G	SLC38A6_uc001xfh.1_Missense_Mutation_p.V75G|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.V52G|TRMT5_uc001xff.3_5'Flank	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	75					amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AATACCGGTGTCTTTGGATTT	0.363													G	61449344	T	G	61449344	3	3	168	1	0	0	0	0	1	0	0	0	14608	1667	58	5	230	5	SLC38A6	14	61449344	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	4692183	61449344	45900196	417	92493											
SYNE2	23224	broad.mit.edu	37	chr14	64554531	64554532	+	Frame_Shift_Ins	INS	-	-	A													caagtaacagctttacaacaINSaaaaataatggaaagccttc							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:64554530_64554531C>CA	uc001xgl.3	+	57	11856_11857	c.11626_11627C>CA	c.(11626-11628)caafs	p.Q3876fs	SYNE2_uc001xgm.3_Frame_Shift_Ins_p.Q3876fs|SYNE2_uc021ruh.1_Frame_Shift_Ins_p.Q3909fs|SYNE2_uc010apy.3_Frame_Shift_Ins_p.Q261fs|SYNE2_uc010apx.1_Frame_Shift_Ins_p.Q268fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3876					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		AGCTTTACAACAAAAAATAATG	0.342													A	64554532	-	A	64554531	7	5	168	1	0	1	1	0	0	0	0	0	15443	130	5	0	11853	0	SYNE2	14	64554531	Frame_Shift_Ins	INS	-	TCGA-CG-4437-01A-01D-1800-08	3105187	64554531	42795009	418	92494											
ESR2	2100	broad.mit.edu	37	chr14	64699872	64699872	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcactgagactgtgggtTctgggagccctctttgcttt	13	10	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:64699872T>A	uc001xha.1	-	9	2044	c.1576A>T	c.(1576-1578)AAC>TAC	p.N526Y	ESR2_uc001xgu.2_Intron|ESR2_uc001xgv.2_Intron|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Intron|ESR2_uc001xgy.1_Intron|ESR2_uc001xgz.1_3'UTR|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.N435Y	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	526	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GACTGTGGGTTCTGGGAGCCC	0.607													A	64699872	T	A	64699872	3	1	168	1	0	0	0	0	1	0	0	0	5257	1783	62	5	106	5	ESR2	14	64699872	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	145341	64699872	42649668	419	92495											
RDH11	51109	broad.mit.edu	37	chr14	68159758	68159758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgatgtacacaccccactgGacagcattttcctgcagaca	7	13	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:68159758G>T	uc001xjv.3	-	2	176	c.86C>A	c.(85-87)TCC>TAC	p.S29Y	RDH11_uc001xjw.3_Missense_Mutation_p.S29Y|RDH11_uc001xjx.3_Missense_Mutation_p.S29Y	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	29	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CACCCCACTGGACAGCATTTT	0.502													T	68159758	G	T	68159758	3	4	168	1	0	0	0	0	1	0	0	0	13190	1174	41	5	894	5	RDH11	14	68159758	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3459886	68159758	39189782	420	92496											
MED6	10001	broad.mit.edu	37	chr14	71063376	71063376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatgatgaaaagaatggGctcttgagcatgcaaaagga	12	6	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:71063376G>A	uc001xmf.2	-	3	256	c.226C>T	c.(226-228)CCC>TCC	p.P76S	MED6_uc010tth.1_Missense_Mutation_p.P76S|MED6_uc010tti.1_Missense_Mutation_p.P76S|MED6_uc001xmg.1_Missense_Mutation_p.P76S|MED6_uc010ttj.1_Missense_Mutation_p.P76S	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	76					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AAAAGAATGGGCTCTTGAGCA	0.373													A	71063376	G	A	71063376	3	1	168	1	0	0	0	0	1	0	0	0	9451	1203	42	2	538	2	MED6	14	71063376	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2903618	71063376	36286164	421	92497											
DCAF4	26094	broad.mit.edu	37	chr14	73422256	73422256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgtttaatggctgccGctctggggaaatctttgcca	11	10	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:73422256G>A	uc001xng.2	+	12	1251	c.1031G>A	c.(1030-1032)CGC>CAC	p.R344H	DCAF4_uc001xnj.2_Missense_Mutation_p.R338H|DCAF4_uc010ttr.1_Missense_Mutation_p.R323H|DCAF4_uc001xnh.2_Missense_Mutation_p.R244H|DCAF4_uc010tts.1_Missense_Mutation_p.R284H|DCAF4_uc010ttt.1_Missense_Mutation_p.R130H|DCAF4_uc001xni.2_Missense_Mutation_p.R174H|DCAF4_uc001xnk.2_Missense_Mutation_p.R344H	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	344						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						AATGGCTGCCGCTCTGGGGAA	0.562													A	73422256	G	A	73422256	3	1	168	1	0	0	0	0	1	0	0	0	4270	1087	38	1	1076	1	DCAF4	14	73422256	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2358880	73422256	33927284	422	92498											
C14orf115	55237	broad.mit.edu	37	chr14	74823592	74823592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttccttggaggccaagCaggtcctgtcttccttcact	10	13	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:74823592C>G	uc001xpw.3	+	2	297	c.106C>G	c.(106-108)CAG>GAG	p.Q36E		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	36					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GGAGGCCAAGCAGGTCCTGTC	0.622													G	74823592	C	G	74823592	3	3	168	1	0	0	0	0	1	0	0	0	1740	711	25	5	108	5	C14orf115	14	74823592	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1401336	74823592	32525948	423	92499											
FLRT2	23768	broad.mit.edu	37	chr14	86088581	86088581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaattgtacgtaattcGctgtcccaccctcctcccga	5	15	1	0	rs145351543	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:86088581G>A	uc001xvr.2	+	2	1490	c.723G>A	c.(721-723)TCG>TCA	p.S241S	FLRT2_uc010atd.2_Silent_p.S241S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	241	Extracellular (Potential).|LRR 8.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TACGTAATTCGCTGTCCCACC	0.502													A	86088581	G	A	86088581	2	1	168	1	0	0	0	0	0	0	0	1	5939	1074	38	1		1	FLRT2	14	86088581	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	11264989	86088581	21260959	424	92500											
C14orf159	80017	broad.mit.edu	37	chr14	91666248	91666256	+	Splice_Site	DEL	TGGTAAGTA	TGGTAAGTA	-													attcctggaatctcatcaacTggtaagtatggagtactggg					rs28715808	byFrequency	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:91666247_91666255CTGGTAAGTA>C	uc001xyw.2	+	11	1796	c.1444_splice	c.e11+1	p.G482_splice	C14orf159_uc001xyz.2_Splice_Site_p.G353_splice|C14orf159_uc001xzb.2_Splice_Site_p.G477_splice|C14orf159_uc001xyx.2_Splice_Site_p.G465_splice|C14orf159_uc001xzc.2_Splice_Site_p.G477_splice|C14orf159_uc001xza.2_Splice_Site_p.G482_splice|C14orf159_uc001xyv.2_Splice_Site_p.G482_splice|C14orf159_uc001xze.2_Splice_Site_p.G477_splice	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	477						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ATCTCATCAACTGGTAAGTATGGAGTACT	0.464													-	91666256	TGGTAAGTA	-	91666248	8	5	168	1	0	1	0	1	0	0	1	0	1755	1594	55	0	1477	0	C14orf159	14	91666248	Splice_Site	DEL	TGGTAAGTA	TCGA-CG-4437-01A-01D-1800-08	5577667	91666248	15683292	425	92501											
SERPINA10	51156	broad.mit.edu	37	chr14	94756223	94756223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcaaagtacctttgaacaaGatgtaatccacaagaattaa	5	7	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr14:94756223G>C	uc001yct.2	-	2	1174	c.708C>G	c.(706-708)ATC>ATG	p.I236M	SERPINA10_uc001ycu.3_Missense_Mutation_p.I236M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	236					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTTGAACAAGATGTAATCCA	0.413													C	94756223	G	C	94756223	3	2	168	1	0	0	0	0	1	0	0	0	14087	932	33	5	642	5	SERPINA10	14	94756223	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3089975	94756223	12593317	426	92502											
ATP10A	57194	broad.mit.edu	37	chr15	25966922	25966922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctgtcctaagtcttcCgtgatgttcagagctcggca	10	10	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:25966922C>T	uc010ayu.2	-	7	1351	c.1245G>A	c.(1243-1245)ACG>ACA	p.T415T		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	415	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CTAAGTCTTCCGTGATGTTCA	0.423													T	25966922	C	T	25966922	2	4	168	1	0	0	0	0	0	0	0	1	1116	639	23	1		1	ATP10A	15	25966922	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08		25966922	76564470	427	92503											
TRPM1	4308	broad.mit.edu	37	chr15	31362292	31362292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactccataggaatctgttGggtagctctgggtgtgcttg	14	7	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:31362292G>A	uc001zfm.2	-	3	283	c.155C>T	c.(154-156)CCA>CTA	p.P52L	TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Missense_Mutation_p.P52L|uc010ubn.1_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	52	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		GGAATCTGTTGGGTAGCTCTG	0.493													A	31362292	G	A	31362292	3	1	168	1	0	0	0	0	1	0	0	0	16582	1348	47	4	4756	4	TRPM1	15	31362292	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	5395370	31362292	71169100	428	92504											
RYR3	6263	broad.mit.edu	37	chr15	34080419	34080420	+	Missense_Mutation	DNP	TG	TG	CA													gaggctctttgtaaacgcagTgtatgcacagcccatcatca							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:34080419_34080420TG>CA	uc001zhi.2	+	67	9660_9661	c.9590_9591TG>CA	c.(9589-9591)GTG>GCA	p.V3197A	RYR3_uc010bar.2_Missense_Mutation_p.V3197A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3197					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GTAAACGCAGTGTATGCACAGC	0.5													CA	34080420	TG	CA	34080419	3	2	168	1	0	0	0	0	1	0	0	0	13770	1710	59	3	9856	3	RYR3	15	34080419	Missense_Mutation	DNP	TG	TCGA-CG-4437-01A-01D-1800-08	2718127	34080419	68450973	429	92505											
DISP2	85455	broad.mit.edu	37	chr15	40657356	40657356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccacttcagctcgagctCccacaacactctgaggcctg	7	17	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:40657356C>T	uc001zlk.1	+	6	817	c.728C>T	c.(727-729)TCC>TTC	p.S243F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	243					smoothened signaling pathway	integral to membrane				ovary(2)	2		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)		AGCTCGAGCTCCCACAACACT	0.602													T	40657356	C	T	40657356	3	4	168	1	0	0	0	0	1	0	0	0	4540	855	30	4	750	4	DISP2	15	40657356	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6576937	40657356	61874036	430	92506											
CASC5	57082	broad.mit.edu	37	chr15	40914168	40914168	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagactgaactcttatcagGtgaaaatatggatttgactg	9	5	2	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:40914168G>C	uc010bbs.1	+	11	1945	c.1784G>C	c.(1783-1785)GGT>GCT	p.G595A	CASC5_uc010ucq.1_Missense_Mutation_p.G419A|CASC5_uc001zme.2_Missense_Mutation_p.G569A|CASC5_uc010bbt.1_Missense_Mutation_p.G569A	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	595	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			breast(3)|central_nervous_system(1)|skin(1)	5		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)		CTCTTATCAGGTGAAAATATG	0.393													C	40914168	G	C	40914168	3	2	168	1	0	0	0	0	1	0	0	0	2663	1261	44	5	1822	5	CASC5	15	40914168	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	256812	40914168	61617224	431	92507											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42138151	42138151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttcaggtatctggagCaacctgtatgcagccaacct	9	12	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:42138151C>T	uc010bco.2	+	16	1607	c.1506C>T	c.(1504-1506)AGC>AGT	p.S502S	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.S733S|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.S733S|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.S203S|JMJD7-PLA2G4B_uc001zor.1_Silent_p.S203S	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	502	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			large_intestine(1)	1						GTATCTGGAGCAACCTGTATG	0.602													T	42138151	C	T	42138151	2	4	168	1	0	0	0	0	0	0	0	1	7955	709	25	2		2	JMJD7-PLA2G4B	15	42138151	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1223983	42138151	60393241	432	92508											
GLDN	342035	broad.mit.edu	37	chr15	51687079	51687079	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggaaaggggagaaaagggaGaccatggtgaactgggcctg	19	5	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:51687079G>C	uc002aba.2	+	5	758	c.589G>C	c.(589-591)GAC>CAC	p.D197H	GLDN_uc002abb.2_Missense_Mutation_p.D73H	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	197	Collagen-like 2.|Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGAAAAGGGAGACCATGGTGA	0.527													C	51687079	G	C	51687079	3	2	168	1	0	0	0	0	1	0	0	0	6434	942	33	5	607	5	GLDN	15	51687079	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	9548928	51687079	50844313	433	92509											
CGNL1	84952	broad.mit.edu	37	chr15	57808977	57808977	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgctttgtgtttttaacaGaatgtcgaggtcttggcgag	12	5	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:57808977G>C	uc002aeg.2	+	9	2480	c.2404_splice	c.e9-1	p.N802_splice	CGNL1_uc010bfw.2_Splice_Site_p.N802_splice	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1							myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GTTTTTAACAGAATGTCGAGG	0.507													C	57808977	G	C	57808977	5	2	168	1	0	0	0	0	0	0	1	0	3304	956	33	5	2433	5	CGNL1	15	57808977	Splice_Site	SNP	G	TCGA-CG-4437-01A-01D-1800-08	6121898	57808977	44722415	434	92510											
CGNL1	84952	broad.mit.edu	37	chr15	57815798	57815798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgagatggagaatgagCggtggcacctgggcaaaacc	15	8	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:57815798C>T	uc002aeg.2	+	11	2903	c.2827C>T	c.(2827-2829)CGG>TGG	p.R943W	CGNL1_uc010bfw.2_Missense_Mutation_p.R943W	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	943	Potential.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAGAATGAGCGGTGGCACCT	0.527													T	57815798	C	T	57815798	3	4	168	1	0	0	0	0	1	0	0	0	3304	759	27	1	2865	1	CGNL1	15	57815798	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6821	57815798	44715594	435	92511											
APH1B	83464	broad.mit.edu	37	chr15	63571457	63571457	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atggaccaacacagaaatatCtgctgatctttggagcgttt	9	8	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:63571457C>G	uc002ama.2	+	2	285	c.211C>G	c.(211-213)CTG>GTG	p.L71V	APH1B_uc002amb.2_Missense_Mutation_p.L71V|APH1B_uc010bgq.2_Missense_Mutation_p.L17V|APH1B_uc010bgr.2_Missense_Mutation_p.L17V	NM_031301	NP_112591	Q8WW43	APH1B_HUMAN	presenilin stabilization factor-like isoform 1	71	Helical; Name=3; (Potential).				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding				0						ACAGAAATATCTGCTGATCTT	0.378													G	63571457	C	G	63571457	3	3	168	1	0	0	0	0	1	0	0	0	772	912	32	5	217	5	APH1B	15	63571457	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	5755659	63571457	38959935	436	92512											
TRIP4	9325	broad.mit.edu	37	chr15	64686249	64686249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcatagaagaacttataaCcaaatggcaaaagaatgatc	6	6	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:64686249C>A	uc002anm.2	+	2	249	c.206C>A	c.(205-207)ACC>AAC	p.T69N		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	69					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			ovary(1)|kidney(1)|skin(1)	3						GAACTTATAACCAAATGGCAA	0.348													A	64686249	C	A	64686249	3	1	168	1	0	0	0	0	1	0	0	0	16555	507	18	5	212	5	TRIP4	15	64686249	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1114792	64686249	37845143	437	92513											
PIF1	80119	broad.mit.edu	37	chr15	65113607	65113607	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacaggtctgcctccacCattgagatctcgtcaatgac	7	13	4	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:65113607C>G	uc002ant.2	-	5	996	c.930G>C	c.(928-930)ATG>ATC	p.M310I	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_Missense_Mutation_p.M1I|PIF1_uc010uiq.1_Missense_Mutation_p.M310I	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	310	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						CTGCCTCCACCATTGAGATCT	0.617													G	65113607	C	G	65113607	3	3	168	1	0	0	0	0	1	0	0	0	11883	594	21	5	1031	5	PIF1	15	65113607	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	427358	65113607	37417785	438	92514											
IQCH	64799	broad.mit.edu	37	chr15	67768148	67768148	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcccatggcattggctatGatgttgaggtatgaagggtt	16	5	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:67768148G>A	uc002aqo.1	+	18	2838	c.2791G>A	c.(2791-2793)GAT>AAT	p.D931N	IQCH_uc002aqq.1_Missense_Mutation_p.D588N|IQCH_uc002aqp.1_Missense_Mutation_p.D592N|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	931										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CATTGGCTATGATGTTGAGGT	0.483													A	67768148	G	A	67768148	3	1	168	1	0	0	0	0	1	0	0	0	7811	1290	45	4	2989	4	IQCH	15	67768148	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2654541	67768148	34763244	439	92515											
THAP10	56906	broad.mit.edu	37	chr15	71174850	71174850	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacaaatcactctgttcactCttgatatcccagtctgtatc	5	12	5	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:71174850C>A	uc002asv.2	-	3	859	c.717G>T	c.(715-717)AAG>AAT	p.K239N	LRRC49_uc002asu.2_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	239							DNA binding|metal ion binding			ovary(1)|skin(1)	2						TCTGTTCACTCTTGATATCCC	0.368													A	71174850	C	A	71174850	3	1	168	1	0	0	0	0	1	0	0	0	15839	912	32	5	60	5	THAP10	15	71174850	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3406702	71174850	31356542	440	92516											
MAN2C1	4123	broad.mit.edu	37	chr15	75648717	75648717	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggcgggcgctgggctGggggctggcagagccaacag	22	9	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:75648717G>C	uc002baf.2	-	24	2828	c.2811C>G	c.(2809-2811)CCC>CCG	p.P937P	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Silent_p.P914P|MAN2C1_uc002bah.2_Silent_p.P954P|MAN2C1_uc010bkk.2_Silent_p.P838P	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	937					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						GCGCTGGGCTGGGGGCTGGCA	0.622													C	75648717	G	C	75648717	2	2	168	1	0	0	0	0	0	0	0	1	9218	1335	47	5		5	MAN2C1	15	75648717	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	4473867	75648717	26882675	441	92517											
KIAA1199	57214	broad.mit.edu	37	chr15	81235367	81235367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagggcgcgtggtgagcCacacgagcttcaggaactcc	13	13	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:81235367C>T	uc002bfw.1	+	27	4041	c.3781C>T	c.(3781-3783)CAC>TAC	p.H1261Y	KIAA1199_uc010unn.1_Missense_Mutation_p.H1261Y	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1261										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CGTGGTGAGCCACACGAGCTT	0.552													T	81235367	C	T	81235367	3	4	168	1	0	0	0	0	1	0	0	0	8213	594	21	4	3883	4	KIAA1199	15	81235367	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	5586650	81235367	21296025	442	92518											
FSD2	123722	broad.mit.edu	37	chr15	83437669	83437669	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctggactttcagcctgggTcagctccacagtgtacgagt	11	11	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:83437669T>A	uc002bjd.2	-	9	1683	c.1516A>T	c.(1516-1518)ACC>TCC	p.T506S	FSD2_uc010uol.1_Missense_Mutation_p.T461S|FSD2_uc010uom.1_Missense_Mutation_p.T461S	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	506	Fibronectin type-III 2.									central_nervous_system(1)	1						TCAGCCTGGGTCAGCTCCACA	0.512													A	83437669	T	A	83437669	3	1	168	1	0	0	0	0	1	0	0	0	6071	1667	58	5	753	5	FSD2	15	83437669	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2202302	83437669	19093723	443	92519											
NMB	4828	broad.mit.edu	37	chr15	85200517	85200517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtccctcagggaggtgtGgggagctgtccccaatgggg	18	10	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:85200517G>A	uc002bkz.2	-	2	639	c.220C>T	c.(220-222)CAC>TAC	p.H74Y	WDR73_uc002bkw.2_5'Flank|WDR73_uc002bkx.2_5'Flank|WDR73_uc010upa.1_5'Flank|NMB_uc002bla.2_Missense_Mutation_p.H74Y	NM_021077	NP_066563	P08949	NMB_HUMAN	neuromedin B isoform 1	74				PLGTAPHTS -> HWGQLPTPP (in Ref. 1; AAA59934).	cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity				0				all cancers(203;3.5e-06)		AGGGAGGTGTGGGGAGCTGTC	0.607													A	85200517	G	A	85200517	3	1	168	1	0	0	0	0	1	0	0	0	10486	1348	47	4	257	4	NMB	15	85200517	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1762848	85200517	17330875	444	92520											
KLHL25	64410	broad.mit.edu	37	chr15	86311917	86311917	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatggccaaagcgggcaatCagcatgggcgccgccttgga	14	13	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:86311917C>T	uc002bly.2	-	2	1328	c.1125G>A	c.(1123-1125)CTG>CTA	p.L375L		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	375	Kelch 2.					cytoplasm				ovary(2)	2						AGCGGGCAATCAGCATGGGCG	0.627													T	86311917	C	T	86311917	2	4	168	1	0	0	0	0	0	0	0	1	8380	813	29	4		4	KLHL25	15	86311917	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1111400	86311917	16219475	445	92521											
FURIN	5045	broad.mit.edu	37	chr15	91424224	91424224	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggggctgcccgtacctccAgaaagcagtggctgcaagac	14	12	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:91424224A>G	uc002bpu.1	+	15	1962	c.1746A>G	c.(1744-1746)CCA>CCG	p.P582P		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	582	Cys-rich.				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			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCGTACCTCCAGAAAGCAGTG	0.622													G	91424224	A	G	91424224	2	3	168	1	0	0	0	0	0	0	0	1	6099	175	7	3		3	FURIN	15	91424224	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	5112307	91424224	11107168	446	92522											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007443	93007443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacggcttctggccctttcCgctggatcagaaccagaacc	9	15	2	2	rs143696221	by1000genomes	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr15:93007443C>T	uc002bra.2	+	6	1111	c.956C>T	c.(955-957)CCG>CTG	p.P319L	ST8SIA2_uc002brb.2_Missense_Mutation_p.P298L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	319	Lumenal (Potential).				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				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TGGCCCTTTCCGCTGGATCAG	0.517													T	93007443	C	T	93007443	3	4	168	1	0	0	0	0	1	0	0	0	15231	652	23	1	978	1	ST8SIA2	15	93007443	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1583219	93007443	9523949	447	92523											
RHBDL1	9028	broad.mit.edu	37	chr16	727688	727688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgctgaggatggtgctggCcttggtgtgcagtgagtagg	19	5	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:727688C>A	uc002cis.1	+	6	1061	c.1034C>A	c.(1033-1035)GCC>GAC	p.A345D	RHBDL1_uc002cir.1_Missense_Mutation_p.A280D|RHBDL1_uc010uun.1_Silent_p.G306G|STUB1_uc002cit.2_5'Flank|STUB1_uc002ciu.2_5'Flank|STUB1_uc010bqz.2_5'Flank|STUB1_uc002civ.2_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	345	Helical; (Potential).				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				ATGGTGCTGGCCTTGGTGTGC	0.667													A	727688	C	A	727688	3	1	168	1	0	0	0	0	1	0	0	0	13321	739	26	5	1056	5	RHBDL1	16	727688	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08		727688	89627065	448	92524											
IFT140	9742	broad.mit.edu	37	chr16	1637198	1637198	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccaggccaggaagcctcaCctttgactttacagtaacac	8	13	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:1637198C>A	uc002cmb.2	-	9	1371	c.1009_splice	c.e9+1	p.G337_splice	IFT140_uc002clz.2_5'Flank	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140											ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GGAAGCCTCACCTTTGACTTT	0.448													A	1637198	C	A	1637198	5	1	168	1	0	0	0	0	0	0	1	0	7556	521	18	5	3470	5	IFT140	16	1637198	Splice_Site	SNP	C	TCGA-CG-4437-01A-01D-1800-08	909510	1637198	88717555	449	92525											
CASKIN1	57524	broad.mit.edu	37	chr16	2231826	2231826	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatctcctgcaggtcctcCcaggtgatgtcggtgatgaa	12	12	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:2231826C>T	uc010bsg.1	-	17	1766	c.1734G>A	c.(1732-1734)TGG>TGA	p.W578*		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	578	SAM 2.				signal transduction	cytoplasm				skin(2)	2						GCAGGTCCTCCCAGGTGATGT	0.393													T	2231826	C	T	2231826	4	4	168	1	0	0	0	0	0	1	0	0	2666	624	22	4	2577	4	CASKIN1	16	2231826	Nonsense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	594628	2231826	88122927	450	92526											
ZNF213	7760	broad.mit.edu	37	chr16	3191066	3191066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcgccaccaaggcgtGcacacgggcgagaagccctt	14	14	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:3191066G>A	uc010uws.1	+	6	1545	c.1098G>A	c.(1096-1098)GTG>GTA	p.V366V	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.V366V|ZNF213_uc010uwt.1_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	366	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACCAAGGCGTGCACACGGGCG	0.672													A	3191066	G	A	3191066	2	1	168	1	0	0	0	0	0	0	0	1	17766	1306	46	2		2	ZNF213	16	3191066	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	959240	3191066	87163687	451	92527											
ZNF200	7752	broad.mit.edu	37	chr16	3282916	3282916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcttcaccaagggacgagGatgcactggggaaagaggaa	15	7	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:3282916G>A	uc002cuj.2	-	3	888	c.256C>T	c.(256-258)CCT>TCT	p.P86S	ZNF200_uc002cum.3_Missense_Mutation_p.P86S|ZNF200_uc010bti.2_Missense_Mutation_p.P86S|ZNF200_uc002cuk.2_Missense_Mutation_p.P86S|ZNF200_uc002cui.2_Missense_Mutation_p.P86S|ZNF200_uc002cul.3_Missense_Mutation_p.P86S	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AAGGGACGAGGATGCACTGGG	0.493													A	3282916	G	A	3282916	3	1	168	1	0	0	0	0	1	0	0	0	17759	1174	41	4	943	4	ZNF200	16	3282916	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	91850	3282916	87071837	452	92528											
GLYR1	84656	broad.mit.edu	37	chr16	4862095	4862095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcgtgttacctaggaagAaggaggtcttccccatcgcc	12	12	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:4862095A>G	uc002cxx.3	-	13	1311	c.1274T>C	c.(1273-1275)TTC>TCC	p.F425S	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.F339S|GLYR1_uc002cya.2_Missense_Mutation_p.F419S|GLYR1_uc010uxv.1_Missense_Mutation_p.F344S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	425					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						ACCTAGGAAGAAGGAGGTCTT	0.572													G	4862095	A	G	4862095	3	3	168	1	0	0	0	0	1	0	0	0	6483	246	9	3	403	3	GLYR1	16	4862095	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1579179	4862095	85492658	453	92529											
A2BP1	54715	broad.mit.edu	37	chr16	7568333	7568333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtaccctcccgcccagaCgcactccgagcagagcccgg	10	20	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:7568333C>T	uc002cys.2	+	5	1200	c.212C>T	c.(211-213)ACG>ATG	p.T71M	A2BP1_uc010buf.1_Missense_Mutation_p.T71M|A2BP1_uc002cyr.1_Missense_Mutation_p.T71M|A2BP1_uc002cyt.2_Missense_Mutation_p.T71M|A2BP1_uc010uxz.1_Missense_Mutation_p.T114M|A2BP1_uc010uya.1_Missense_Mutation_p.T107M|A2BP1_uc002cyv.1_Missense_Mutation_p.T71M|A2BP1_uc010uyb.1_Missense_Mutation_p.T71M|A2BP1_uc002cyw.2_Missense_Mutation_p.T91M|A2BP1_uc002cyy.2_Missense_Mutation_p.T91M|A2BP1_uc002cyx.2_Missense_Mutation_p.T91M|A2BP1_uc010uyc.1_Missense_Mutation_p.T91M	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	71					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CCCGCCCAGACGCACTCCGAG	0.652													T	7568333	C	T	7568333	3	4	168	1	0	0	0	0	1	0	0	0	3	536	19	1	309	1	A2BP1	16	7568333	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2706238	7568333	82786420	454	92530											
GRIN2A	2903	broad.mit.edu	37	chr16	9858092	9858092	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttggttttcaggtaggtGcgctcgacctcactacagtc	11	10	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:9858092G>T	uc002czo.3	-	13	3857	c.3309C>A	c.(3307-3309)CGC>CGA	p.R1103R	GRIN2A_uc010uym.1_Silent_p.R1103R|GRIN2A_uc010uyn.1_Silent_p.R946R|GRIN2A_uc002czr.3_Silent_p.R1103R	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1103	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAGGTAGGTGCGCTCGACCT	0.483													T	9858092	G	T	9858092	2	4	168	1	0	0	0	0	0	0	0	1	6779	1306	46	5		5	GRIN2A	16	9858092	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2289759	9858092	80496661	455	92531											
ACSM1	116285	broad.mit.edu	37	chr16	20693649	20693649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcttggttttcagagaGgggcactgagaagctatgga	16	5	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:20693649G>A	uc002dhm.1	-	3	608	c.540C>T	c.(538-540)CCC>CCT	p.P180P	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.P180P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	180					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)|skin(1)	2						TTTTCAGAGAGGGGCACTGAG	0.498													A	20693649	G	A	20693649	2	1	168	1	0	0	0	0	0	0	0	1	182	987	35	4		4	ACSM1	16	20693649	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	10835557	20693649	69661104	456	92532											
AQP8	343	broad.mit.edu	37	chr16	25238439	25238439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgtgcttttggacctgCggtggtggccaaccactgga	14	13	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:25238439C>T	uc002doc.2	+	5	735	c.653C>T	c.(652-654)GCG>GTG	p.A218V		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	218	Extracellular (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		TTTGGACCTGCGGTGGTGGCC	0.607													T	25238439	C	T	25238439	3	4	168	1	0	0	0	0	1	0	0	0	832	768	27	1	671	1	AQP8	16	25238439	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4544790	25238439	65116314	457	92533											
CLN3	1201	broad.mit.edu	37	chr16	28488892	28488892	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagccaggagccccgacaggGagatccccagtgtgtcagag	14	12	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:28488892G>C	uc002dpo.2	-	15	1585	c.1262C>G	c.(1261-1263)TCC>TGC	p.S421C	uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.S343C|CLN3_uc010vcu.1_Missense_Mutation_p.S321C|CLN3_uc002dpn.2_Missense_Mutation_p.S322C|CLN3_uc002dpm.2_Missense_Mutation_p.S367C|CLN3_uc010vcv.1_Missense_Mutation_p.S397C|CLN3_uc010byd.2_Missense_Mutation_p.S324C|CLN3_uc002dpp.2_Missense_Mutation_p.S421C|CLN3_uc002dpt.1_Missense_Mutation_p.S321C|CLN3_uc002dpq.1_Missense_Mutation_p.S373C|CLN3_uc010bye.1_Missense_Mutation_p.S404C|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.S294C|CLN3_uc002dpu.1_Missense_Mutation_p.S319C	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	421	Helical; (Potential).				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						CCCCGACAGGGAGATCCCCAG	0.607													C	28488892	G	C	28488892	3	2	168	1	0	0	0	0	1	0	0	0	3543	1174	41	5	58	5	CLN3	16	28488892	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3250453	28488892	61865861	458	92534											
RNF40	9810	broad.mit.edu	37	chr16	30783174	30783174	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagaagccgcccagctGgccgaggacctgaaggtgca	15	12	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:30783174G>C	uc002dzq.2	+	18	2730	c.2607G>C	c.(2605-2607)CTG>CTC	p.L869L	RNF40_uc010caa.2_Silent_p.L869L|RNF40_uc010cab.2_Silent_p.L769L|RNF40_uc010vfa.1_Silent_p.L201L|RNF40_uc002dzr.2_Silent_p.L869L|RNF40_uc010vfb.1_Silent_p.L561L|RNF40_uc010vfc.1_Silent_p.L201L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	869	Potential.				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(1)	1			Colorectal(24;0.198)			CCGCCCAGCTGGCCGAGGACC	0.632													C	30783174	G	C	30783174	2	2	168	1	0	0	0	0	0	0	0	1	13493	1335	47	5		5	RNF40	16	30783174	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2294282	30783174	59571579	459	92535											
ITGAM	3684	broad.mit.edu	37	chr16	31284772	31284783	+	In_Frame_Del	DEL	ATCCCTTGGGAT	ATCCCTTGGGAT	-													ggatggagaaaagtttggcgAtcccttgggatatgaggatg							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:31284771_31284782GATCCCTTGGGAT>G	uc002ebr.3	+	7	888_899	c.790_801GATCCCTTGGGAT>G	c.(790-801)gatcccttggga>G	p.DPLG264del	ITGAM_uc002ebq.3_In_Frame_Del_p.DPLG264del|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	264	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						AAAGTTTGGCGATCCCTTGGGATATGAGGATG	0.5													-	31284783	ATCCCTTGGGAT	-	31284772	7	5	168	1	0	1	0	1	0	0	0	0	7887	333	12	0	821	0	ITGAM	16	31284772	In_Frame_Del	DEL	ATCCCTTGGGAT	TCGA-CG-4437-01A-01D-1800-08	501598	31284772	59069981	460	92536											
ARMC5	79798	broad.mit.edu	37	chr16	31475984	31475984	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttgtgaccggcccggCgctgtacggcctgctgacct	14	15	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:31475984C>G	uc002ecc.2	+	4	2169	c.1640C>G	c.(1639-1641)GCG>GGG	p.A547G	ARMC5_uc010vfn.1_Missense_Mutation_p.A642G|ARMC5_uc010vfo.1_Missense_Mutation_p.A579G|ARMC5_uc002eca.3_Missense_Mutation_p.A547G|ARMC5_uc010vfp.1_Missense_Mutation_p.A355G|ARMC5_uc002ecb.2_Missense_Mutation_p.A547G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	547							binding			pancreas(1)	1						ACCGGCCCGGCGCTGTACGGC	0.697													G	31475984	C	G	31475984	3	3	168	1	0	0	0	0	1	0	0	0	954	768	27	5	1654	5	ARMC5	16	31475984	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	191212	31475984	58878769	461	92537											
HEATR3	55027	broad.mit.edu	37	chr16	50100171	50100171	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgggccggcggcggagctGctggaaaaggtgaggcgagg	22	8	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:50100171G>C	uc002efw.2	+	1	291	c.129G>C	c.(127-129)CTG>CTC	p.L43L	HEATR3_uc002efx.2_Missense_Mutation_p.C15S	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	43	HEAT 1.						binding			ovary(1)|skin(1)	2						CGGCGGAGCTGCTGGAAAAGG	0.711													C	50100171	G	C	50100171	2	2	168	1	0	0	0	0	0	0	0	1	7029	1306	46	5		5	HEATR3	16	50100171	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	18624187	50100171	40254582	462	92538											
SALL1	6299	broad.mit.edu	37	chr16	51174348	51174348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgactcagggcccccGgagtcacttttgactgagcc	13	13	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:51174348G>A	uc010vgs.1	-	2	1816	c.1785C>T	c.(1783-1785)TCC>TCT	p.S595S	SALL1_uc010vgr.1_Silent_p.S498S|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	595					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGGGCCCCCGGAGTCACTTT	0.612													A	51174348	G	A	51174348	2	1	168	1	0	0	0	0	0	0	0	1	13810	1103	39	1		1	SALL1	16	51174348	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1074177	51174348	39180405	463	92539											
CHD9	80205	broad.mit.edu	37	chr16	53190912	53190912	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatcagactttatctgAttttactggaagtaattcct	5	7	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:53190912A>C	uc002ehb.2	+	1	1075	c.911A>C	c.(910-912)GAT>GCT	p.D304A	CHD9_uc002egy.2_Missense_Mutation_p.D304A|CHD9_uc002egz.1_Missense_Mutation_p.D304A|CHD9_uc002eha.1_Missense_Mutation_p.D304A|CHD9_uc002ehc.2_Missense_Mutation_p.D304A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	304	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACTTTATCTGATTTTACTGGA	0.338													C	53190912	A	C	53190912	3	2	168	1	0	0	0	0	1	0	0	0	3332	333	12	5	913	5	CHD9	16	53190912	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2016564	53190912	37163841	464	92540											
SLC12A3	6559	broad.mit.edu	37	chr16	56903669	56903669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcatcatcctgctgtcGgtcacggtgacctccatcac	9	14	4	1	rs140931462		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:56903669G>A	uc010ccm.2	+	4	563	c.534G>A	c.(532-534)TCG>TCA	p.S178S	SLC12A3_uc002ekd.3_Silent_p.S178S|SLC12A3_uc010ccn.2_Silent_p.S177S	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	178	Helical; (Potential).		S -> L (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTGCTGTCGGTCACGGTGA	0.522													A	56903669	G	A	56903669	2	1	168	1	0	0	0	0	0	0	0	1	14384	1103	39	1		1	SLC12A3	16	56903669	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3712757	56903669	33451084	465	92541											
RRAD	6236	broad.mit.edu	37	chr16	66958847	66958847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgccccctgagctgagcGagtcctcggagtcctcgggc	14	16	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:66958847G>A	uc002eqn.2	-	2	388	c.236C>T	c.(235-237)TCG>TTG	p.S79L	RRAD_uc002eqo.2_Missense_Mutation_p.S79L	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	79					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGAGCTGAGCGAGTCCTCGGA	0.741													A	66958847	G	A	66958847	3	1	168	1	0	0	0	0	1	0	0	0	13671	1059	37	1	706	1	RRAD	16	66958847	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	10055178	66958847	23395906	466	92542											
EXOC3L	283849	broad.mit.edu	37	chr16	67219060	67219060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccgtggggttccgcacGcgccagaagtcccggcagaa	14	13	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:67219060G>A	uc002erx.1	-	11	1969	c.1728C>T	c.(1726-1728)CGC>CGT	p.R576R	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.R227R|EXOC3L_uc002ery.1_Silent_p.R478R|EXOC3L_uc010vje.1_Silent_p.R473R	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	576					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		GGTTCCGCACGCGCCAGAAGT	0.677													A	67219060	G	A	67219060	2	1	168	1	0	0	0	0	0	0	0	1	5304	1074	38	1		1	EXOC3L	16	67219060	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	260213	67219060	23135693	467	92543											
SLC9A5	6553	broad.mit.edu	37	chr16	67290884	67290884	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gacaagattgaccaagtggtGatgtcctatgggggcctgcg	15	8	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:67290884G>C	uc002esm.2	+	7	1266	c.1203G>C	c.(1201-1203)GTG>GTC	p.V401V	SLC9A5_uc010cee.2_Silent_p.V106V|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	401	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCAAGTGGTGATGTCCTATG	0.587													C	67290884	G	C	67290884	2	2	168	1	0	0	0	0	0	0	0	1	14717	1277	45	5		5	SLC9A5	16	67290884	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	71824	67290884	23063869	468	92544											
RLTPR	146206	broad.mit.edu	37	chr16	67681832	67681832	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggacctttctgggaatcctGgggcgctgggggcctccgag	17	11	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:67681832G>C	uc002etn.2	+	13	1162	c.1042G>C	c.(1042-1044)GGG>CGG	p.G348R	RLTPR_uc010cel.1_Missense_Mutation_p.G348R|RLTPR_uc010vjr.1_Missense_Mutation_p.G348R	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	348	LRR 6.									breast(1)	1		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)		TGGGAATCCTGGGGCGCTGGG	0.662													C	67681832	G	C	67681832	3	2	168	1	0	0	0	0	1	0	0	0	13394	1348	47	5	1092	5	RLTPR	16	67681832	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	390948	67681832	22672921	469	92545											
SF3B3	23450	broad.mit.edu	37	chr16	70575719	70575719	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgagttggacagcctctcTcccattctgttttgccaggt	10	11	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:70575719T>C	uc002ezf.2	+	9	1426	c.1215T>C	c.(1213-1215)TCT>TCC	p.S405S		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	405					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				ACAGCCTCTCTCCCATTCTGT	0.428													C	70575719	T	C	70575719	2	2	168	1	0	0	0	0	0	0	0	1	14152	1538	54	3		3	SF3B3	16	70575719	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2893887	70575719	19779034	470	92546											
ZFHX3	463	broad.mit.edu	37	chr16	72992656	72992656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctcttcctcctcCgcctcctcttcggctggctc	5	22	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:72992656C>T	uc002fck.2	-	2	2062	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	463	Poly-Glu.				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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				cttcctcctccgcctcctctt	0.318													T	72992656	C	T	72992656	2	4	168	1	0	0	0	0	0	0	0	1	17631	639	23	1		1	ZFHX3	16	72992656	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2416937	72992656	17362097	471	92547											
ADAMTS18	170692	broad.mit.edu	37	chr16	77323228	77323228	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accggaggtttctgatggagCagacaacttgaggaaggccg	15	8	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:77323228C>G	uc002ffc.3	-	22	3902	c.3483G>C	c.(3481-3483)CTG>CTC	p.L1161L		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1161	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TCTGATGGAGCAGACAACTTG	0.537													G	77323228	C	G	77323228	2	3	168	1	0	0	0	0	0	0	0	1	263	697	25	5		5	ADAMTS18	16	77323228	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4330572	77323228	13031525	472	92548											
SLC7A5	8140	broad.mit.edu	37	chr16	87866582	87866582	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcggcctcctggctatgtCtcctgggggaccacctgcat	11	15	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr16:87866582C>G	uc002fkm.2	-	10	1590	c.1518G>C	c.(1516-1518)GAG>GAC	p.E506D		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	506					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		CTGGCTATGTCTCCTGGGGGA	0.622													G	87866582	C	G	87866582	3	3	168	1	0	0	0	0	1	0	0	0	14700	912	32	5	9	5	SLC7A5	16	87866582	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	10543354	87866582	2488171	473	92549											
FAM101B	359845	broad.mit.edu	37	chr17	293071	293071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagggtggtggtgtagaCggccttggggtacttggggt	19	6	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:293071C>T	uc002frj.2	-	2	593	c.319G>A	c.(319-321)GTC>ATC	p.V107I		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	177											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		GTGGTGTAGACGGCCTTGGGG	0.642													T	293071	C	T	293071	3	4	168	1	0	0	0	0	1	0	0	0	5381	536	19	1	119	1	FAM101B	17	293071	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08		293071	80902139	474	92550											
PRPF8	10594	broad.mit.edu	37	chr17	1565203	1565203	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaccaggctgtacctgAggtcggattgggggatgagc	17	7	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:1565203A>C	uc002fte.2	-	25	4133	c.4019T>G	c.(4018-4020)CTC>CGC	p.L1340R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1340						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTGTACCTGAGGTCGGATTG	0.488													C	1565203	A	C	1565203	3	2	168	1	0	0	0	0	1	0	0	0	12575	304	11	5	3064	5	PRPF8	17	1565203	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1272132	1565203	79630007	475	92551											
ZMYND15	84225	broad.mit.edu	37	chr17	4648177	4648177	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcaggatttaactccgGgtttgctctcaaggatacgt	11	9	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:4648177G>C	uc002fyt.2	+	11	1772	c.1733G>C	c.(1732-1734)GGG>GCG	p.G578A	ZMYND15_uc002fyv.2_Missense_Mutation_p.G617A|ZMYND15_uc002fyu.2_Missense_Mutation_p.G625A	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	578							zinc ion binding				0						TTTAACTCCGGGTTTGCTCTC	0.607													C	4648177	G	C	4648177	3	2	168	1	0	0	0	0	1	0	0	0	17705	1232	43	5	1892	5	ZMYND15	17	4648177	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3082974	4648177	76547033	476	92552											
SLC2A4	6517	broad.mit.edu	37	chr17	7187687	7187687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagaatctcgaggggcCtgccagaaagagtaagctct	11	11	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:7187687C>T	uc002gfp.2	+	6	916	c.716C>T	c.(715-717)CCT>CTT	p.P239L	SLC2A4_uc002gfo.2_Missense_Mutation_p.P239L|SLC2A4_uc010cmd.2_RNA	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	239	Cytoplasmic (Potential).				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				0						CTCGAGGGGCCTGCCAGAAAG	0.642													T	7187687	C	T	7187687	3	4	168	1	0	0	0	0	1	0	0	0	14546	681	24	4	738	4	SLC2A4	17	7187687	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2539510	7187687	74007523	477	92553											
NLGN2	57555	broad.mit.edu	37	chr17	7317669	7317669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccccacacagatatccGtgaccctgggaagaagcctg	9	16	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:7317669G>A	uc002ggt.1	+	3	588	c.515G>A	c.(514-516)CGT>CAT	p.R172H		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	172	Extracellular (Potential).				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)	1		Prostate(122;0.157)				ACAGATATCCGTGACCCTGGG	0.627													A	7317669	G	A	7317669	3	1	168	1	0	0	0	0	1	0	0	0	10462	1145	40	1	525	1	NLGN2	17	7317669	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	129982	7317669	73877541	478	92554											
WRAP53	55135	broad.mit.edu	37	chr17	7604143	7604143	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcccagccagacaccTcctagtaagtaatgtttgcc	7	15	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:7604143T>G	uc010vuh.1	+	5	882	c.727T>G	c.(727-729)TCC>GCC	p.S243A	WRAP53_uc010vui.1_Missense_Mutation_p.S243A|WRAP53_uc002gip.2_Missense_Mutation_p.S243A|WRAP53_uc002gir.2_Missense_Mutation_p.S243A|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Missense_Mutation_p.S210A|WRAP53_uc010vuj.1_Missense_Mutation_p.S24A	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	243	WD 2.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						GCCAGACACCTCCTAGTAAGT	0.557													G	7604143	T	G	7604143	3	3	168	1	0	0	0	0	1	0	0	0	17397	1551	54	5	741	5	WRAP53	17	7604143	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	286474	7604143	73591067	479	92555											
DNAH2	146754	broad.mit.edu	37	chr17	7705023	7705023	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagtagacctgggaactcagGagaatgtgagcccctcctcc	12	12	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:7705023G>T	uc002giu.1	+	56	8841	c.8827G>T	c.(8827-8829)GAG>TAG	p.E2943*	DNAH2_uc010cnm.1_5'Flank	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2943	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			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGAACTCAGGAGAATGTGAG	0.308													T	7705023	G	T	7705023	4	4	168	1	0	0	0	0	0	1	0	0	4602	1175	41	5	9049	5	DNAH2	17	7705023	Nonsense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	100880	7705023	73490187	480	92556											
MYH13	8735	broad.mit.edu	37	chr17	10227552	10227552	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgagtccttcacaccgTtcctcagcgtccatcagatt	7	13	3	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:10227552T>C	uc002gmk.1	-	23	2811	c.2721A>G	c.(2719-2721)GAA>GAG	p.E907E	MYH13_uc010vve.1_Silent_p.E5E	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	907	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CTTCACACCGTTCCTCAGCGT	0.428													C	10227552	T	C	10227552	2	2	168	1	0	0	0	0	0	0	0	1	10032	1722	60	3		3	MYH13	17	10227552	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	2522529	10227552	70967658	481	92557											
MYH4	4622	broad.mit.edu	37	chr17	10355590	10355590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagagcgctgcttctctgCtttggcccgggaggcccgct	14	14	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:10355590C>A	uc002gmn.2	-	27	3517	c.3406G>T	c.(3406-3408)GCA>TCA	p.A1136S	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1136	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TGCTTCTCTGCTTTGGCCCGG	0.552													A	10355590	C	A	10355590	3	1	168	1	0	0	0	0	1	0	0	0	10037	797	28	5	2469	5	MYH4	17	10355590	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	128038	10355590	70839620	482	92558											
MYH2	4620	broad.mit.edu	37	chr17	10435038	10435038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttttgcctctgacttgGcaagttcgtctttaattttc	6	10	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:10435038G>T	uc010coi.2	-	22	2737	c.2609C>A	c.(2608-2610)GCC>GAC	p.A870D	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A870D|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	870	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTCTGACTTGGCAAGTTCGTC	0.418													T	10435038	G	T	10435038	3	4	168	1	0	0	0	0	1	0	0	0	10035	1203	42	5	3292	5	MYH2	17	10435038	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	79448	10435038	70760172	483	92559											
NCOR1	9611	broad.mit.edu	37	chr17	16040687	16040688	+	Nonsense_Mutation	DNP	TC	TC	AA													ggctttataattctcattttTcttggttaaatagtaataca							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:16040687_16040688TC>AA	uc002gpo.2	-	14	1686_1687	c.1446_1447GA>TT	c.(1444-1449)AAGAAA>AATTAA	p.482_483KK>N*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.482_483KK>N*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.373_374KK>N*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.373_374KK>N*|NCOR1_uc002gps.1_Nonsense_Mutation_p.491_492KK>N*|NCOR1_uc010coz.1_Nonsense_Mutation_p.298_299KK>N*|NCOR1_uc010cpb.1_Nonsense_Mutation_p.491_492KK>N*|NCOR1_uc010cpa.1_Nonsense_Mutation_p.482_483KK>N*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	482_483	SANT 1.				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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCTCATTTTTCTTGGTTAAAT	0.297													AA	16040688	TC	AA	16040687	4	1	168	1	0	0	0	0	0	1	0	0	10235	1792	62	5	6007	5	NCOR1	17	16040687	Nonsense_Mutation	DNP	TC	TCGA-CG-4437-01A-01D-1800-08	5605649	16040687	65154523	484	92560											
ABHD15	116236	broad.mit.edu	37	chr17	27893668	27893668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtggcagagggtctgcAggtggggcccggagaaccag	19	9	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:27893668A>C	uc002hed.1	-	1	381	c.317T>G	c.(316-318)CTG>CGG	p.L106R	TP53I13_uc002hee.2_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	106						extracellular region	carboxylesterase activity				0						GAGGGTCTGCAGGTGGGGCCC	0.726													C	27893668	A	C	27893668	3	2	168	1	0	0	0	0	1	0	0	0	81	188	7	5	1097	5	ABHD15	17	27893668	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	11852981	27893668	53301542	485	92561											
CPD	1362	broad.mit.edu	37	chr17	28783287	28783287	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctatagtggaaaataaagaGactctgaagcatttggcatc	9	6	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:28783287G>A	uc002hfb.1	+	16	3366	c.3351G>A	c.(3349-3351)GAG>GAA	p.E1117E	CPD_uc010wbo.1_Silent_p.E870E|CPD_uc010wbp.1_Intron	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1117	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AAAATAAAGAGACTCTGAAGC	0.368													A	28783287	G	A	28783287	2	1	168	1	0	0	0	0	0	0	0	1	3798	933	33	4		4	CPD	17	28783287	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	889619	28783287	52411923	486	92562											
ATAD5	79915	broad.mit.edu	37	chr17	29161318	29161318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagacttcacccacaaaTgagaagacacaattagggaa	8	8	1	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:29161318T>G	uc002hfs.1	+	2	565	c.219T>G	c.(217-219)AAT>AAG	p.N73K	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	73					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CACCCACAAATGAGAAGACAC	0.383													G	29161318	T	G	29161318	3	3	168	1	0	0	0	0	1	0	0	0	1076	1461	51	5	225	5	ATAD5	17	29161318	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	378031	29161318	52033892	487	92563											
TMEM98	26022	broad.mit.edu	37	chr17	31266499	31266499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttttgcctccggtcagggtgGatgatgttgtgaagtcgatg	15	6	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:31266499G>T	uc002hhq.2	+	7	876	c.418G>T	c.(418-420)GAT>TAT	p.D140Y	TMEM98_uc002hhr.2_Missense_Mutation_p.D140Y	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	140						endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GGTCAGGGTGGATGATGTTGT	0.408													T	31266499	G	T	31266499	3	4	168	1	0	0	0	0	1	0	0	0	16222	1174	41	5	436	5	TMEM98	17	31266499	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2105181	31266499	49928711	488	92564											
LIG3	3980	broad.mit.edu	37	chr17	33328293	33328293	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaaagctgccgtgtgggaGatcacaggggctgaattctc	14	9	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:33328293G>T	uc002hik.1	+	17	2457	c.2349G>T	c.(2347-2349)GAG>GAT	p.E783D	LIG3_uc002hij.2_Missense_Mutation_p.E783D	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	783					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			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	CCGTGTGGGAGATCACAGGGG	0.438								Other_BER_factors					T	33328293	G	T	33328293	3	4	168	1	0	0	0	0	1	0	0	0	8782	933	33	5	2411	5	LIG3	17	33328293	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2061794	33328293	47866917	489	92565											
RFFL	117584	broad.mit.edu	37	chr17	33348714	33348714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgtagctcgaaaccgTtggcagagaaggcagaggcg	16	8	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:33348714T>C	uc002hin.1	-	3	440	c.267A>G	c.(265-267)CAA>CAG	p.Q89Q	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Silent_p.Q89Q|RFFL_uc010cti.1_Silent_p.Q95Q|RFFL_uc002hip.1_Silent_p.Q89Q|RFFL_uc002hio.1_Silent_p.Q89Q	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	rififylin	89	FYVE-type.				apoptosis	membrane	ligase activity|zinc ion binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCGAAACCGTTGGCAGAGAA	0.502													C	33348714	T	C	33348714	2	2	168	1	0	0	0	0	0	0	0	1	13250	1722	60	3		3	RFFL	17	33348714	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	20421	33348714	47846496	490	92566											
GGNBP2	79893	broad.mit.edu	37	chr17	34935804	34935804	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagaagagcagacatggcaGatgcttttctatcttggtgt	12	7	2	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:34935804G>A	uc002hnb.2	+	8	1224	c.975G>A	c.(973-975)CAG>CAA	p.Q325Q	GGNBP2_uc002hna.2_Silent_p.Q325Q|GGNBP2_uc002hnc.1_Silent_p.Q154Q	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	325					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGACATGGCAGATGCTTTTCT	0.433													A	34935804	G	A	34935804	2	1	168	1	0	0	0	0	0	0	0	1	6359	933	33	4		4	GGNBP2	17	34935804	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1587090	34935804	46259406	491	92567											
SRCIN1	80725	broad.mit.edu	37	chr17	36717698	36717698	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggttaacgtccctcaCctggtctccgtgtccttggc	11	15	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:36717698C>G	uc002hqd.2	-	7	1925	c.1700_splice	c.e7+1	p.R567_splice	SRCIN1_uc002hqf.1_Splice_Site_p.R439_splice|SRCIN1_uc002hqe.2_Splice_Site_p.R421_splice|SRCIN1_uc002hqg.2_5'Flank	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein						exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						ACGTCCCTCACCTGGTCTCCG	0.677													G	36717698	C	G	36717698	5	3	168	1	0	0	0	0	0	0	1	0	15135	521	18	5	1902	5	SRCIN1	17	36717698	Splice_Site	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1781894	36717698	44477512	492	92568											
GRB7	2886	broad.mit.edu	37	chr17	37899172	37899172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtaaaggtgtacagtgagGatggggcctgcaggtctgtg	17	5	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:37899172G>A	uc002hsr.2	+	4	578	c.328G>A	c.(328-330)GAT>AAT	p.D110N	GRB7_uc002hss.2_Missense_Mutation_p.D110N|GRB7_uc010cwc.2_Missense_Mutation_p.D110N|GRB7_uc002hst.2_Missense_Mutation_p.D110N	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	110	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)			GTACAGTGAGGATGGGGCCTG	0.597													A	37899172	G	A	37899172	3	1	168	1	0	0	0	0	1	0	0	0	6759	1174	41	4	338	4	GRB7	17	37899172	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1181474	37899172	43296038	493	92569											
KRT27	342574	broad.mit.edu	37	chr17	38938687	38938687	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccccactagagagcctcacaGagccagtgcccccgcaagag	10	17	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:38938687G>C	uc002hvg.2	-	1	100	c.59C>G	c.(58-60)TCT>TGT	p.S20C		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	20	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				GAGCCTCACAGAGCCAGTGCC	0.582													C	38938687	G	C	38938687	3	2	168	1	0	0	0	0	1	0	0	0	8464	942	33	5	1352	5	KRT27	17	38938687	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1039515	38938687	42256523	494	92570											
KRT12	3859	broad.mit.edu	37	chr17	39019999	39019999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttccgattctgctcagCgatggtttcatactgcgccc	9	14	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:39019999C>T	uc002hvk.2	-	4	949	c.925G>A	c.(925-927)GCT>ACT	p.A309T		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	309	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				TTCTGCTCAGCGATGGTTTCA	0.552													T	39019999	C	T	39019999	3	4	168	1	0	0	0	0	1	0	0	0	8449	768	27	1	579	1	KRT12	17	39019999	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	81312	39019999	42175211	495	92571											
KRT37	8688	broad.mit.edu	37	chr17	39578678	39578678	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagctgactcctcagaatCtttacttcctgcagaaatgg	7	13	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:39578678C>A	uc002hwp.1	-	4	788	c.741G>T	c.(739-741)AAG>AAT	p.K247N	uc002hwo.1_Intron	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	247	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				TCCTCAGAATCTTTACTTCCT	0.562													A	39578678	C	A	39578678	3	1	168	1	0	0	0	0	1	0	0	0	8474	912	32	5	624	5	KRT37	17	39578678	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	558679	39578678	41616532	496	92572											
KRT38	8687	broad.mit.edu	37	chr17	39596900	39596900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttcaccataggccccacAgattccaatgttgccaggaa	8	12	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:39596900A>G	uc002hwq.1	-	1	697	c.274T>C	c.(274-276)TGT>CGT	p.C92R		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	92	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				TAGGCCCCACAGATTCCAATG	0.602													G	39596900	A	G	39596900	3	3	168	1	0	0	0	0	1	0	0	0	8475	188	7	3	1124	3	KRT38	17	39596900	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	18222	39596900	41598310	497	92573											
KRT36	8689	broad.mit.edu	37	chr17	39643923	39643923	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggatcttgttgagatccaCtgggggagcagcgtccacct	13	11	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:39643923C>G	uc002hwt.2	-	4	766	c.766G>C	c.(766-768)GTG>CTG	p.V256L		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	256	Rod.|Linker 12.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TTGAGATCCACTGGGGGAGCA	0.517													G	39643923	C	G	39643923	3	3	168	1	0	0	0	0	1	0	0	0	8473	565	20	5	653	5	KRT36	17	39643923	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	47023	39643923	41551287	498	92574											
KCNH4	23415	broad.mit.edu	37	chr17	40321495	40321495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaccctgcaggctacCtcgttggcgtcgatgccgct	13	13	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:40321495C>T	uc002hzb.2	-	9	1923	c.1590G>A	c.(1588-1590)GAG>GAA	p.E530E		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	530	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCAGGCTACCTCGTTGGCGT	0.627													T	40321495	C	T	40321495	2	4	168	1	0	0	0	0	0	0	0	1	8034	695	24	4		4	KCNH4	17	40321495	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	677572	40321495	40873715	499	92575											
ATP6V0A1	535	broad.mit.edu	37	chr17	40639384	40639384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcactcagaaggggcaCggtgagtccccaaagctaac	12	11	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:40639384C>A	uc002hzr.2	+	10	1189	c.1022C>A	c.(1021-1023)ACG>AAG	p.T341K	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.T341K|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.T348K|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.T298K|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.T298K|ATP6V0A1_uc010cyg.2_5'UTR|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.T200K	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	341	Cytoplasmic (Potential).				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			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGAAGGGGCACGGTGAGTCCC	0.438													A	40639384	C	A	40639384	3	1	168	1	0	0	0	0	1	0	0	0	1168	550	19	5	1077	5	ATP6V0A1	17	40639384	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	317889	40639384	40555826	500	92576											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839832	40839832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcccggtttcccacgccGtggccgcctggcagtctcat	12	16	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:40839832G>A	uc002iay.2	+	8	1355	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	380	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.R380H(1)		ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCCCACGCCGTGGCCGCCTG	0.637													A	40839832	G	A	40839832	3	1	168	1	0	0	0	0	1	0	0	0	3646	1145	40	1	1169	1	CNTNAP1	17	40839832	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	200448	40839832	40355378	501	92577											
CNTNAP1	8506	broad.mit.edu	37	chr17	40840604	40840604	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcatacccgttgctgatccgGacagggacctcatatttctt	8	12	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:40840604G>C	uc002iay.2	+	9	1647	c.1431G>C	c.(1429-1431)CGG>CGC	p.R477R	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	477	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCTGATCCGGACAGGGACCT	0.547													C	40840604	G	C	40840604	2	2	168	1	0	0	0	0	0	0	0	1	3646	1161	41	5		5	CNTNAP1	17	40840604	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	772	40840604	40354606	502	92578											
DHX8	1659	broad.mit.edu	37	chr17	41584565	41584565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttgcttaggccaagaGgtaagtagatagtggagtcg	16	4	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:41584565G>A	uc002idu.1	+	13	1996	c.1923G>A	c.(1921-1923)GAG>GAA	p.E641E	DHX8_uc010wif.1_Silent_p.E550E|DHX8_uc010wig.1_Silent_p.E641E	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	641	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TAGGCCAAGAGGTAAGTAGAT	0.458													A	41584565	G	A	41584565	2	1	168	1	0	0	0	0	0	0	0	1	4515	1014	35	4		4	DHX8	17	41584565	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	743961	41584565	39610645	503	92579											
TRIM25	7706	broad.mit.edu	37	chr17	54991410	54991410	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccgaggccgccgaggaaacGaaacctagctcgagaggagc	14	12	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:54991410G>C	uc002iut.2	-	1	1	c.-59_splice	c.e1-1		TRIM25_uc010dcj.2_Splice_Site	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25						innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					CCGAGGAAACGAAACCTAGCT	0.706													C	54991410	G	C	54991410	5	2	168	1	0	0	0	0	0	0	1	0	16496	1073	37	5		5	TRIM25	17	54991410	Splice_Site	SNP	G	TCGA-CG-4437-01A-01D-1800-08	13406845	54991410	26203800	504	92580											
SCPEP1	59342	broad.mit.edu	37	chr17	55062741	55062741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctctcttccatagggCggtccaggcggttctagcac	10	13	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:55062741C>T	uc002iuv.3	+	3	281	c.228C>T	c.(226-228)GGC>GGT	p.G76G	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.G26G	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	76					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					TTCCATAGGGCGGTCCAGGCG	0.428													T	55062741	C	T	55062741	2	4	168	1	0	0	0	0	0	0	0	1	13935	755	27	1		1	SCPEP1	17	55062741	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	71331	55062741	26132469	505	92581											
MTMR4	9110	broad.mit.edu	37	chr17	56581218	56581218	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggcagataaacagctgtCcagaggtgcagggcccggac	15	11	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:56581218C>T	uc002iwj.2	-	15	1808	c.1698G>A	c.(1696-1698)TGG>TGA	p.W566*		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	566	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAACAGCTGTCCAGAGGTGCA	0.522													T	56581218	C	T	56581218	4	4	168	1	0	0	0	0	0	1	0	0	9946	856	30	4	1909	4	MTMR4	17	56581218	Nonsense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1518477	56581218	24613992	506	92582											
TEX14	56155	broad.mit.edu	37	chr17	56676672	56676672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttttgaagagctctcAtcctcactgccaaaacaaca	5	13	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:56676672A>G	uc010dcz.1	-	14	2170	c.2052T>C	c.(2050-2052)GAT>GAC	p.D684D	TEX14_uc002iwr.1_Silent_p.D678D|TEX14_uc002iws.1_Silent_p.D678D|TEX14_uc010dda.1_Silent_p.D458D	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	684						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGAGCTCTCATCCTCACTGC	0.483													G	56676672	A	G	56676672	2	3	168	1	0	0	0	0	0	0	0	1	15775	214	8	3		3	TEX14	17	56676672	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	95454	56676672	24518538	507	92583											
DHX40	79665	broad.mit.edu	37	chr17	57684433	57684433	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttaaagaaaatgcaaagaaGaaatgatgacaaatccatat	6	5	0	5			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:57684433G>C	uc002ixn.1	+	18	2387	c.2240G>C	c.(2239-2241)AGA>ACA	p.R747T	DHX40_uc010woe.1_Missense_Mutation_p.R670T|DHX40_uc010wof.1_Missense_Mutation_p.R262T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	747							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGCAAAGAAGAAATGATGAC	0.383													C	57684433	G	C	57684433	3	2	168	1	0	0	0	0	1	0	0	0	4512	942	33	5	2310	5	DHX40	17	57684433	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1007761	57684433	23510777	508	92584											
USP32	84669	broad.mit.edu	37	chr17	58258984	58258984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacttgacagtttattttTgctgccaatctggggcagcc	9	10	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:58258984T>C	uc002iyo.1	-	32	4535	c.4249A>G	c.(4249-4251)AAA>GAA	p.K1417E	USP32_uc002iyn.1_Missense_Mutation_p.K1087E	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1417					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTTTATTTTTGCTGCCAATC	0.537													C	58258984	T	C	58258984	3	2	168	1	0	0	0	0	1	0	0	0	17060	1821	63	3	577	3	USP32	17	58258984	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	574551	58258984	22936226	509	92585											
MED13	9969	broad.mit.edu	37	chr17	60129928	60129928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggtttttcatctttttcaTaaggctttacaaaccacttg	5	8	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:60129928T>C	uc002izo.2	-	3	517	c.440A>G	c.(439-441)TAT>TGT	p.Y147C		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	147					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			large_intestine(1)|ovary(1)	2						ATCTTTTTCATAAGGCTTTAC	0.328													C	60129928	T	C	60129928	3	2	168	1	0	0	0	0	1	0	0	0	9430	1406	49	3	6196	3	MED13	17	60129928	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1870944	60129928	21065282	510	92586											
FTSJ3	117246	broad.mit.edu	37	chr17	61897523	61897523	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctggtctgctccagcCtcttcagcatctgcaaagga	8	14	5	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:61897523C>G	uc002jbz.2	-	19	2345	c.2267G>C	c.(2266-2268)AGG>ACG	p.R756T	FTSJ3_uc002jca.2_Missense_Mutation_p.R756T	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	756					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						CTGCTCCAGCCTCTTCAGCAT	0.572													G	61897523	C	G	61897523	3	3	168	1	0	0	0	0	1	0	0	0	6089	681	24	5	284	5	FTSJ3	17	61897523	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1767595	61897523	19297687	511	92587											
SCN4A	6329	broad.mit.edu	37	chr17	62020205	62020205	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccacaatggacaggatgacGaccacgaagtcaaagatgtt	10	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:62020205G>C	uc002jds.1	-	23	4346	c.4269C>G	c.(4267-4269)GTC>GTG	p.V1423V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1423	Helical; Name=S3 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	ACAGGATGACGACCACGAAGT	0.592													C	62020205	G	C	62020205	2	2	168	1	0	0	0	0	0	0	0	1	13920	1045	37	5		5	SCN4A	17	62020205	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	122682	62020205	19175005	512	92588											
ERN1	2081	broad.mit.edu	37	chr17	62125323	62125323	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcgcaatcatcttctctatCaattcacgtgcaatgacgtc	5	12	5	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:62125323C>G	uc002jdz.2	-	19	2537	c.2424G>C	c.(2422-2424)TTG>TTC	p.L808F		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	808	Cytoplasmic (Potential).|Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						TCTTCTCTATCAATTCACGTG	0.413													G	62125323	C	G	62125323	3	3	168	1	0	0	0	0	1	0	0	0	5237	825	29	5	525	5	ERN1	17	62125323	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	105118	62125323	19069887	513	92589											
PITPNC1	26207	broad.mit.edu	37	chr17	65548449	65548449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcttggaactattatcccTacacaattacaggtaagtcc	7	10	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:65548449T>C	uc002jgc.2	+	3	621	c.274T>C	c.(274-276)TAC>CAC	p.Y92H	PITPNC1_uc002jgb.2_Missense_Mutation_p.Y92H	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	92					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTATTATCCCTACACAATTAC	0.388													C	65548449	T	C	65548449	3	2	168	1	0	0	0	0	1	0	0	0	11949	1522	53	3	284	3	PITPNC1	17	65548449	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	3423126	65548449	15646761	514	92590											
MAP2K6	5608	broad.mit.edu	37	chr17	67519748	67519748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggtggactctgttgctaAaacaattgatgcaggttgca	11	7	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:67519748A>G	uc002jij.2	+	8	917	c.629A>G	c.(628-630)AAA>AGA	p.K210R		NM_002758	NP_002749	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	210	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			lung(2)|stomach(1)|ovary(1)|pancreas(1)	5	Breast(10;6.05e-10)					TCTGTTGCTAAAACAATTGAT	0.448													G	67519748	A	G	67519748	3	3	168	1	0	0	0	0	1	0	0	0	9241	14	1	3	659	3	MAP2K6	17	67519748	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1971299	67519748	13675462	515	92591											
GRIN2C	2905	broad.mit.edu	37	chr17	72848621	72848626	+	In_Frame_Del	DEL	GCGCGT	GCGCGT	-													gcgcacgccctccaggaagaGcgcgtggcccgggtgcaggc							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:72848621_72848626delGCGCGT	uc002jlt.1	-	3	680_685	c.524_529delACGCGC	c.(523-531)CACGCGCTC>CTC	p.HA175del	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_In_Frame_Del_p.HA175del|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	175_176	Extracellular (Potential).				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			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TCCAGGAAGAGCGCGTGGCCCGGGTG	0.714													-	72848626	GCGCGT	-	72848621	7	5	168	1	0	1	0	1	0	0	0	0	6781	971	34	0	3216	0	GRIN2C	17	72848621	In_Frame_Del	DEL	GCGCGT	TCGA-CG-4437-01A-01D-1800-08	5328873	72848621	8346589	516	92592											
FBF1	85302	broad.mit.edu	37	chr17	73921502	73921502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggctccaaaggtgaagtcCtcgtcaccccacatatcttc	7	14	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:73921502C>T	uc002jqc.2	-	12	1126	c.852G>A	c.(850-852)GAG>GAA	p.E284E	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.E274E|FBF1_uc002jqd.1_Silent_p.E284E	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	284											0						AGGTGAAGTCCTCGTCACCCC	0.562													T	73921502	C	T	73921502	2	4	168	1	0	0	0	0	0	0	0	1	5695	680	24	4		4	FBF1	17	73921502	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1072881	73921502	7273708	517	92593											
DNAH17	8632	broad.mit.edu	37	chr17	76503864	76503864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaattccatcatgctccaGgtactgtccagggctttcag	10	11	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:76503864G>A	uc010wtu.1	-	2	312	c.135C>T	c.(133-135)ACC>ACT	p.T45T						full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCATGCTCCAGGTACTGTCCA	0.567													A	76503864	G	A	76503864	2	1	168	1	0	0	0	0	0	0	0	1	4601	987	35	4		4	DNAH17	17	76503864	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2582362	76503864	4691346	518	92594											
DNAH17	8632	broad.mit.edu	37	chr17	76557965	76557965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagatcttagcattgtctAgctcagcgtcaaacagctcc	7	12	4	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:76557965A>C	uc002jvv.1	-	8	879	c.773T>G	c.(772-774)CTA>CGA	p.L258R						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCATTGTCTAGCTCAGCGTC	0.597													C	76557965	A	C	76557965	3	2	168	1	0	0	0	0	1	0	0	0	4601	420	15	5	12001	5	DNAH17	17	76557965	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	54101	76557965	4637245	519	92595											
PYCR1	5831	broad.mit.edu	37	chr17	79894654	79894654	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttggccagggcaaAagccagctggccagcgccga	14	14	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr17:79894654A>C	uc002kcr.1	-	1	315	c.37T>G	c.(37-39)TTT>GTT	p.F13V	PYCR1_uc002kcq.1_Missense_Mutation_p.F13V|PYCR1_uc002kcp.2_Missense_Mutation_p.F13V|PYCR1_uc002kcs.1_Missense_Mutation_p.F13V|PYCR1_uc010wvd.1_Missense_Mutation_p.F40V|PYCR1_uc002kct.1_Missense_Mutation_p.F13V|PYCR1_uc002kcu.1_Missense_Mutation_p.F13V|PYCR1_uc010wve.1_5'Flank	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	13					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GCCAGGGCAAAAGCCAGCTGG	0.677													C	79894654	A	C	79894654	3	2	168	1	0	0	0	0	1	0	0	0	12855	14	1	5	1038	5	PYCR1	17	79894654	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	3336689	79894654	1300556	520	92596											
SMCHD1	23347	broad.mit.edu	37	chr18	2674039	2674039	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaaacacaaggaaaacCtgctgttgcagtgatagata	10	6	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:2674039C>G	uc002klm.3	+	5	722	c.533C>G	c.(532-534)CCT>CGT	p.P178R		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	178					chromosome organization		ATP binding				0						CAAGGAAAACCTGCTGTTGCA	0.343													G	2674039	C	G	2674039	3	3	168	1	0	0	0	0	1	0	0	0	14788	681	24	5	551	5	SMCHD1	18	2674039	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08		2674039	75403209	521	92597											
EPB41L3	23136	broad.mit.edu	37	chr18	5489161	5489161	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccggcttggattccgagtCtgatccagattcggtcgtca	12	11	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:5489161C>A	uc002kmt.1	-	2	108	c.22G>T	c.(22-24)GAC>TAC	p.D8Y	EPB41L3_uc010wzh.1_Missense_Mutation_p.D8Y|EPB41L3_uc002kmu.1_Missense_Mutation_p.D8Y|EPB41L3_uc010dkq.1_Splice_Site|EPB41L3_uc010dks.1_Missense_Mutation_p.D30Y|EPB41L3_uc002kmv.1_Splice_Site	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	8					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GATTCCGAGTCTGATCCAGAT	0.473													A	5489161	C	A	5489161	3	1	168	1	0	0	0	0	1	0	0	0	5154	913	32	5	3325	5	EPB41L3	18	5489161	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2815122	5489161	72588087	522	92598											
SPIRE1	56907	broad.mit.edu	37	chr18	12546865	12546865	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctccttcaaaccatagtcCagtgctttataaataataat	3	9	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:12546865C>A	uc002kre.2	-	3	458	c.411G>T	c.(409-411)CTG>CTT	p.L137L	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.L17L|SPIRE1_uc010wzx.1_Intron|SPIRE1_uc010wzy.1_Silent_p.L137L	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	137	KIND.					cytoskeleton|perinuclear region of cytoplasm	actin binding				0						AACCATAGTCCAGTGCTTTAT	0.403													A	12546865	C	A	12546865	2	1	168	1	0	0	0	0	0	0	0	1	15070	581	21	5		5	SPIRE1	18	12546865	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7057704	12546865	65530383	523	92599											
NPC1	4864	broad.mit.edu	37	chr18	21134742	21134742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacgcagtacagaaagtgCgtgtggtaatcggcatacac	12	9	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:21134742C>T	uc002kum.3	-	9	1807	c.1533G>A	c.(1531-1533)ACG>ACA	p.T511T	NPC1_uc010xaz.1_Silent_p.T312T|NPC1_uc010xba.1_Silent_p.T356T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	511					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			ovary(2)	2	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)					ACAGAAAGTGCGTGTGGTAAT	0.443													T	21134742	C	T	21134742	2	4	168	1	0	0	0	0	0	0	0	1	10570	755	27	1		1	NPC1	18	21134742	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	8587877	21134742	56942506	524	92600											
CABYR	26256	broad.mit.edu	37	chr18	21736146	21736146	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcctcttgtgtgttcTggaaaggtgctagaagtgca	13	8	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:21736146T>C	uc002kux.2	+	4	833	c.681T>C	c.(679-681)TCT>TCC	p.S227S	CABYR_uc010xbb.1_Silent_p.S129S|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Silent_p.S209S|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	NM_012189	NP_036321	O75952	CABYR_HUMAN	calcium-binding tyrosine	227					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				0	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)					TTGTGTGTTCTGGAAAGGTGC	0.478													C	21736146	T	C	21736146	2	2	168	1	0	0	0	0	0	0	0	1	2536	1567	55	3		3	CABYR	18	21736146	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	601404	21736146	56341102	525	92601											
CDH2	1000	broad.mit.edu	37	chr18	25583075	25583075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgattctgtacctcaacatCccattgagggcattgggatc	9	11	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:25583075C>T	uc002kwg.2	-	7	1365	c.906G>A	c.(904-906)GGG>GGA	p.G302G	CDH2_uc010xbn.1_Silent_p.G271G	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	302	Extracellular (Potential).|Cadherin 2.				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			ovary(3)|lung(1)	4						ACCTCAACATCCCATTGAGGG	0.458													T	25583075	C	T	25583075	2	4	168	1	0	0	0	0	0	0	0	1	3105	842	30	4		4	CDH2	18	25583075	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3846929	25583075	52494173	526	92602											
FHOD3	80206	broad.mit.edu	37	chr18	34192035	34192035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggactgacctggacttaGtggagcaactcaacatttat	10	8	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:34192035G>A	uc002kzt.1	+	9	1031	c.934G>A	c.(934-936)GTG>ATG	p.V312M	FHOD3_uc002kzr.1_Missense_Mutation_p.V312M|FHOD3_uc002kzs.1_Missense_Mutation_p.V312M|FHOD3_uc002kzu.1_Missense_Mutation_p.V137M|FHOD3_uc010dmz.1_Missense_Mutation_p.V65M	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	312	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCTGGACTTAGTGGAGCAACT	0.507													A	34192035	G	A	34192035	3	1	168	1	0	0	0	0	1	0	0	0	5883	1029	36	4	968	4	FHOD3	18	34192035	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	8608960	34192035	43885213	527	92603											
RTTN	25914	broad.mit.edu	37	chr18	67871435	67871435	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcagatttggctccacattaGaccgaagcttagataagaac	9	9	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr18:67871435G>C	uc002lkp.2	-	3	352	c.284C>G	c.(283-285)TCT>TGT	p.S95C	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S95C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	95							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CTCCACATTAGACCGAAGCTT	0.428													C	67871435	G	C	67871435	3	2	168	1	0	0	0	0	1	0	0	0	13737	942	33	5	6584	5	RTTN	18	67871435	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	33679400	67871435	10205813	528	92604											
LMNB2	84823	broad.mit.edu	37	chr19	2433911	2433911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggccgaggcctgctgGgccaggtggaagccaccgct	16	15	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:2433911G>A	uc002lvy.2	-	8	1422	c.1335C>T	c.(1333-1335)GCC>GCT	p.A445A	LMNB2_uc002lwa.1_Silent_p.A465A	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	445	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(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)		AGGCCTGCTGGGCCAGGTGGA	0.662													A	2433911	G	A	2433911	2	1	168	1	0	0	0	0	0	0	0	1	8850	1219	43	4		4	LMNB2	19	2433911	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08		2433911	56695072	529	92605											
FZR1	51343	broad.mit.edu	37	chr19	3525967	3525967	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccagagccggagccaactgGagcgtgaacttccacaggat	12	12	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:3525967G>C	uc010dtk.2	+	2	205	c.171G>C	c.(169-171)TGG>TGC	p.W57C	FZR1_uc002lxt.2_Missense_Mutation_p.W57C|FZR1_uc002lxv.2_Missense_Mutation_p.W57C	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	57					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			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCCAACTGGAGCGTGAACT	0.672													C	3525967	G	C	3525967	3	2	168	1	0	0	0	0	1	0	0	0	6138	1183	41	5	177	5	FZR1	19	3525967	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1092056	3525967	55603016	530	92606											
UBXN6	80700	broad.mit.edu	37	chr19	4446345	4446345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtacttgcgcagccccCgctgctcctccttctcccgc	8	19	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:4446345C>T	uc002man.1	-	9	1082	c.986G>A	c.(985-987)CGG>CAG	p.R329Q	UBXN6_uc010dty.1_Missense_Mutation_p.R233Q|UBXN6_uc002mam.1_Missense_Mutation_p.R276Q	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	329						microtubule organizing center|nucleus	protein binding				0						GCGCAGCCCCCGCTGCTCCTC	0.721													T	4446345	C	T	4446345	3	4	168	1	0	0	0	0	1	0	0	0	16914	652	23	1	351	1	UBXN6	19	4446345	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	920378	4446345	54682638	531	92607											
TICAM1	148022	broad.mit.edu	37	chr19	4818286	4818286	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgcccctggcagcctGggcgtggggtcttcagtttg	16	12	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:4818286G>C	uc002mbi.2	-	2	355	c.104C>G	c.(103-105)CCA>CGA	p.P35R		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	35					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTGGCAGCCTGGGCGTGGGGT	0.592													C	4818286	G	C	4818286	3	2	168	1	0	0	0	0	1	0	0	0	15889	1348	47	5	2038	5	TICAM1	19	4818286	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	371941	4818286	54310697	532	92608											
PTPRS	5802	broad.mit.edu	37	chr19	5244018	5244018	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcctccagcaggctgccCacggtggtcagcaggctgtc	13	15	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:5244018C>A	uc002mbv.2	-	11	1698	c.1464G>T	c.(1462-1464)GTG>GTT	p.V488V	PTPRS_uc002mbu.1_Silent_p.V475V|PTPRS_uc010xin.1_Silent_p.V475V|PTPRS_uc002mbw.2_Silent_p.V475V|PTPRS_uc002mbx.2_Silent_p.V479V|PTPRS_uc002mby.2_Silent_p.V475V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	488	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCAGGCTGCCCACGGTGGTCA	0.672													A	5244018	C	A	5244018	2	1	168	1	0	0	0	0	0	0	0	1	12811	581	21	5		5	PTPRS	19	5244018	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	425732	5244018	53884965	533	92609											
TNFSF9	8744	broad.mit.edu	37	chr19	6535071	6535071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcccttcaccgaggtcGgaataacgtccagcctgggt	12	13	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:6535071G>A	uc002mfh.2	+	3	797	c.759G>A	c.(757-759)TCG>TCA	p.S253S		NM_003811	NP_003802	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily,	253	Extracellular (Potential).				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)	1						CACCGAGGTCGGAATAACGTC	0.627													A	6535071	G	A	6535071	2	1	168	1	0	0	0	0	0	0	0	1	16309	1103	39	1		1	TNFSF9	19	6535071	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1291053	6535071	52593912	534	92610											
SNAPC2	6618	broad.mit.edu	37	chr19	7987364	7987364	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacctgctcatgtcactTccagaggagctgccactcct	8	16	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:7987364T>G	uc002miw.1	+	5	743	c.720T>G	c.(718-720)CTT>CTG	p.L240L	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	240					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						TCATGTCACTTCCAGAGGAGC	0.627													G	7987364	T	G	7987364	2	3	168	1	0	0	0	0	0	0	0	1	14835	1770	62	5		5	SNAPC2	19	7987364	Silent	SNP	T	TCGA-CG-4437-01A-01D-1800-08	1452293	7987364	51141619	535	92611											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661972	8661972	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatttctgccacttacagaaGctgtccagggacttcccggc	10	13	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:8661972G>C	uc002mkj.1	-	8	1213	c.939C>G	c.(937-939)AGC>AGG	p.S313R	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	313	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ACTTACAGAAGCTGTCCAGGG	0.587													C	8661972	G	C	8661972	3	2	168	1	0	0	0	0	1	0	0	0	256	962	34	5	2448	5	ADAMTS10	19	8661972	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	674608	8661972	50467011	536	92612											
PIN1	5300	broad.mit.edu	37	chr19	9959825	9959825	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcggacgggggagatgagcGggcccgtgttcacggattcc	18	10	1	2	rs139473099		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:9959825G>C	uc002mml.1	+	4	464	c.442G>C	c.(442-444)GGG>CGG	p.G148R	PIN1_uc002mmm.1_3'UTR|PIN1_uc002mmn.1_RNA	NM_006221	NP_006212	Q13526	PIN1_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	148	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(1)	1						GGAGATGAGCGGGCCCGTGTT	0.687													C	9959825	G	C	9959825	3	2	168	1	0	0	0	0	1	0	0	0	11930	1116	39	5	456	5	PIN1	19	9959825	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1297853	9959825	49169158	537	92613											
CACNA1A	773	broad.mit.edu	37	chr19	13397751	13397751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttgacaggttggggcccGacacagggaccccggagccc	16	13	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:13397751G>A	uc010dze.2	-	20	3358	c.3122C>T	c.(3121-3123)TCG>TTG	p.S1041L	CACNA1A_uc010dzc.2_Missense_Mutation_p.S566L|CACNA1A_uc002mwy.3_Missense_Mutation_p.S1040L|CACNA1A_uc010xne.1_Missense_Mutation_p.S569L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1041	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGGGGCCCGACACAGGGAC	0.537													A	13397751	G	A	13397751	3	1	168	1	0	0	0	0	1	0	0	0	2538	1059	37	1	4615	1	CACNA1A	19	13397751	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3437926	13397751	45731232	538	92614											
NOTCH3	4854	broad.mit.edu	37	chr19	15302590	15302590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcactggcagttataggtGttgacgccatccacgcatgt	13	10	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:15302590G>A	uc002nan.2	-	5	844	c.768C>T	c.(766-768)AAC>AAT	p.N256N	NOTCH3_uc002nao.1_Silent_p.N256N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	256	Extracellular (Potential).|EGF-like 6; 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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGTTATAGGTGTTGACGCCAT	0.617													A	15302590	G	A	15302590	2	1	168	1	0	0	0	0	0	0	0	1	10550	1368	48	4		4	NOTCH3	19	15302590	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1904839	15302590	43826393	539	92615											
CYP4F8	11283	broad.mit.edu	37	chr19	15730504	15730504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccaccgtcgcttgtgacgCctgccttccatttcaacatc	6	17	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:15730504C>A	uc002nbi.2	+	7	521	c.457C>A	c.(457-459)CCT>ACT	p.P153T	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.1_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	153					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			large_intestine(1)	1						GCTTGTGACGCCTGCCTTCCA	0.507													A	15730504	C	A	15730504	3	1	168	1	0	0	0	0	1	0	0	0	4191	726	26	5	470	5	CYP4F8	19	15730504	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	427914	15730504	43398479	540	92616											
JAK3	3718	broad.mit.edu	37	chr19	17952465	17952465	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccactaaaatctggttgtctGtcctggtaacagtgaccagg	10	10	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:17952465G>C	uc002nhn.3	-	7	1068	c.968C>G	c.(967-969)ACA>AGA	p.T323R	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.T323R|JAK3_uc010xpx.1_Missense_Mutation_p.T323R	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	323	FERM.				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			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CTGGTTGTCTGTCCTGGTAAC	0.612		2	Mis		acute megakaryocytic leukemia|								C	17952465	G	C	17952465	3	2	168	1	0	0	0	0	1	0	0	0	7939	1377	48	5	2478	5	JAK3	19	17952465	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2221961	17952465	41176518	541	92617											
UPF1	5976	broad.mit.edu	37	chr19	18971148	18971148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcggatcgtgtgaagaaggGatttgacttccagtggcccc	14	9	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:18971148G>C	uc002nkg.2	+	16	2509	c.2234G>C	c.(2233-2235)GGA>GCA	p.G745A	UPF1_uc002nkf.2_Missense_Mutation_p.G734A|UPF1_uc002nkh.2_5'UTR	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	745					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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTGAAGAAGGGATTTGACTTC	0.537													C	18971148	G	C	18971148	3	2	168	1	0	0	0	0	1	0	0	0	17000	1174	41	5	2263	5	UPF1	19	18971148	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1018683	18971148	40157835	542	92618											
KIAA0355	9710	broad.mit.edu	37	chr19	34842423	34842423	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggttcttgcaggaaaCacagcagtggagagcaagac	12	9	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:34842423C>G	uc002nvd.3	+	13	3689	c.2830C>G	c.(2830-2832)CAC>GAC	p.H944D		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	944										ovary(1)	1	Esophageal squamous(110;0.162)					TTGCAGGAAACACAGCAGTGG	0.587													G	34842423	C	G	34842423	3	3	168	1	0	0	0	0	1	0	0	0	8170	478	17	5	2876	5	KIAA0355	19	34842423	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	15871275	34842423	24286560	543	92619											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-													cctagcagatgtggctcctaCccccccaaagacccctgccc							TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36210764	C	-	36210764	7	5	168	1	0	1	0	1	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Del	DEL	C	TCGA-CG-4437-01A-01D-1800-08	1368341	36210764	22918219	544	92620											
RASGRP4	115727	broad.mit.edu	37	chr19	38912651	38912651	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctcatcttcgctgcAgccgccctcactcagcaggc	9	18	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:38912651A>T	uc002oir.2	-	2	380	c.166T>A	c.(166-168)TGC>AGC	p.C56S	RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.C56S|RASGRP4_uc010xub.1_Missense_Mutation_p.C56S|RASGRP4_uc010xuc.1_Missense_Mutation_p.C56S|RASGRP4_uc010xud.1_Missense_Mutation_p.C56S|RASGRP4_uc010xue.1_Missense_Mutation_p.C56S|RASGRP4_uc010egb.2_Missense_Mutation_p.C56S	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	56	N-terminal Ras-GEF.				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			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCTTCGCTGCAGCCGCCCTCA	0.562													T	38912651	A	T	38912651	3	4	168	1	0	0	0	0	1	0	0	0	13077	188	7	5	1919	5	RASGRP4	19	38912651	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	2701887	38912651	20216332	545	92621											
RYR1	6261	broad.mit.edu	37	chr19	39068820	39068820	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagtaccagatctggaaGttcggggtcatcttcacaga	11	9	5	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:39068820G>C	uc002oit.2	+	99	14470	c.14340G>C	c.(14338-14340)AAG>AAC	p.K4780N	RYR1_uc002oiu.2_Missense_Mutation_p.K4775N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4780					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGATCTGGAAGTTCGGGGTCA	0.612													C	39068820	G	C	39068820	3	2	168	1	0	0	0	0	1	0	0	0	13768	1020	36	5	14734	5	RYR1	19	39068820	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	156169	39068820	20060163	546	92622											
AXL	558	broad.mit.edu	37	chr19	41726605	41726605	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcacaggtgcccggggactCacgggcacccttcggtgtca	13	14	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:41726605C>T	uc010ehj.2	+	2	340	c.150C>T	c.(148-150)CTC>CTT	p.L50L	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.L50L|AXL_uc010ehk.2_Silent_p.L50L	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	50	Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CCCGGGGACTCACGGGCACCC	0.617													T	41726605	C	T	41726605	2	4	168	1	0	0	0	0	0	0	0	1	1238	813	29	4		4	AXL	19	41726605	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2657785	41726605	17402378	547	92623											
ZNF404	342908	broad.mit.edu	37	chr19	44378005	44378005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgttatttctcttatGtagaggaagggatttatgtt	10	3	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:44378005G>A	uc002oxs.3	-	2	361	c.352C>T	c.(352-354)CAT>TAT	p.H118Y		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TTTCTCTTATGTAGAGGAAGG	0.348													A	44378005	G	A	44378005	3	1	168	1	0	0	0	0	1	0	0	0	17883	1377	48	4	1301	4	ZNF404	19	44378005	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2651400	44378005	14750978	548	92624											
IGFL4	444882	broad.mit.edu	37	chr19	46543422	46543422	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcagatccttacctgggcaCagatcctggtgataggggag	14	9	1	3	rs147872869	by1000genomes	TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:46543422C>G	uc002pdy.1	-	3	377	c.323G>C	c.(322-324)TGT>TCT	p.C108S		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	108						extracellular region					0		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)		TACCTGGGCACAGATCCTGGT	0.567													G	46543422	C	G	46543422	3	3	168	1	0	0	0	0	1	0	0	0	7589	478	17	5	59	5	IGFL4	19	46543422	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2165417	46543422	12585561	549	92625											
IGFL2	147920	broad.mit.edu	37	chr19	46664038	46664038	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgctttgagctctgctgtCttgattcctttggcctcaca	8	13	3	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:46664038C>A	uc010xxv.1	+	3	277	c.241C>A	c.(241-243)CTT>ATT	p.L81I	IGFL2_uc002peb.2_Missense_Mutation_p.L92I	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform b	81						extracellular region	protein binding				0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCTCTGCTGTCTTGATTCCTT	0.527													A	46664038	C	A	46664038	3	1	168	1	0	0	0	0	1	0	0	0	7587	913	32	5	307	5	IGFL2	19	46664038	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	120616	46664038	12464945	550	92626											
PPP5C	5536	broad.mit.edu	37	chr19	46893354	46893354	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccacctccagggctctGacctacggcctcagttccac	7	18	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:46893354G>A	uc002pem.2	+	12	1462	c.1402G>A	c.(1402-1404)GAC>AAC	p.D468N	PPP5C_uc010xya.1_Missense_Mutation_p.D335N|PPP5C_uc002pen.2_Missense_Mutation_p.D446N	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	468	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			lung(1)|pancreas(1)	2		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)		CCAGGGCTCTGACCTACGGCC	0.642													A	46893354	G	A	46893354	3	1	168	1	0	0	0	0	1	0	0	0	12406	1290	45	4	1448	4	PPP5C	19	46893354	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	229316	46893354	12235629	551	92627											
GYS1	2997	broad.mit.edu	37	chr19	49477581	49477581	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcttgtggaggagaggaactCcgggtggaaaatcacctggt	16	7	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:49477581C>G	uc002plp.2	-	12	1679	c.1438G>C	c.(1438-1440)GAG>CAG	p.E480Q	GYS1_uc010xzy.1_Missense_Mutation_p.E113Q|GYS1_uc010emm.2_Missense_Mutation_p.E416Q|GYS1_uc010xzz.1_Missense_Mutation_p.E400Q	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	480					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		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)		GAGAGGAACTCCGGGTGGAAA	0.488													G	49477581	C	G	49477581	3	3	168	1	0	0	0	0	1	0	0	0	6912	864	30	5	795	5	GYS1	19	49477581	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	2584227	49477581	9651402	552	92628											
NR1H2	7376	broad.mit.edu	37	chr19	50883102	50883102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatcaccttcttgaaggaCttcacctacagcaaggacga	8	11	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:50883102C>T	uc010enw.2	+	9	1272	c.996C>T	c.(994-996)GAC>GAT	p.D332D	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Silent_p.D287D|NR1H2_uc002psa.3_Silent_p.D234D	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	331	Ligand-binding (Potential).				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				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTTGAAGGACTTCACCTACA	0.478													T	50883102	C	T	50883102	2	4	168	1	0	0	0	0	0	0	0	1	10617	564	20	4		4	NR1H2	19	50883102	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1405521	50883102	8245881	553	92629											
C19orf75	284369	broad.mit.edu	37	chr19	51770751	51770751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaaccaggaaaacccGtagtcgccacattttctgag	10	11	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:51770751G>A	uc002pwb.1	+	5	916	c.535G>A	c.(535-537)GTA>ATA	p.V179I	C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.V85I	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	179						integral to membrane				ovary(1)|pancreas(1)	2						AGGAAAACCCGTAGTCGCCAC	0.463													A	51770751	G	A	51770751	3	1	168	1	0	0	0	0	1	0	0	0	1949	1145	40	1	549	1	C19orf75	19	51770751	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	887649	51770751	7358232	554	92630											
ZNF808	388558	broad.mit.edu	37	chr19	53067359	53067359	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagactttcaggattaagCggtttctggccaacaaccaa	8	10	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:53067359C>T	uc002pzq.2	+	4		c.3871C>T						Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808, mRNA (cDNA clone IMAGE:3542548), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGGATTAAGCGGTTTCTGGC	0.428													T	53067359	C	T	53067359	1	4	168	0	1	0	0	0	0	0	0	0	18170	783	27	1		1	ZNF808	19	53067359	RNA	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1296608	53067359	6061624	555	92631											
ZIM2	23619	broad.mit.edu	37	chr19	57286491	57286491	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttcattgcagccagaAgtcttcctaccagaatgggt	8	12	2	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr19:57286491A>C	uc002qnr.2	-	11	1531	c.1149T>G	c.(1147-1149)ACT>ACG	p.T383T	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.T179T|ZIM2_uc010ygr.1_Silent_p.T179T|ZIM2_uc002qnq.2_Silent_p.T383T|ZIM2_uc010etp.2_Silent_p.T383T|ZIM2_uc010ygs.1_Silent_p.T383T	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGCAGCCAGAAGTCTTCCTAC	0.448													C	57286491	A	C	57286491	2	2	168	1	0	0	0	0	0	0	0	1	17681	59	3	5		5	ZIM2	19	57286491	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	4219132	57286491	1842492	556	92632											
IDH3B	3420	broad.mit.edu	37	chr20	2641184	2641184	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgaactttgcaatccgcTgagacttggctcgtgtgaca	12	10	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:2641184T>G	uc002wgp.2	-	7	593	c.584A>C	c.(583-585)CAG>CCG	p.Q195P	IDH3B_uc002wgq.2_Missense_Mutation_p.Q195P|IDH3B_uc002wgr.2_Missense_Mutation_p.Q43P|IDH3B_uc010zpz.1_3'UTR	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	195					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	TGCAATCCGCTGAGACTTGGC	0.522													G	2641184	T	G	2641184	3	3	168	1	0	0	0	0	1	0	0	0	7497	1580	55	5	682	5	IDH3B	20	2641184	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08		2641184	60384336	557	92633											
MCM8	84515	broad.mit.edu	37	chr20	5958554	5958554	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgccccacgtggcgtgtaTgtttgtggtaacaccacgac	12	11	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:5958554T>A	uc002wmi.2	+	13	1805	c.1428T>A	c.(1426-1428)TAT>TAA	p.Y476*	MCM8_uc002wmj.2_Nonsense_Mutation_p.Y460*|MCM8_uc002wmk.2_Nonsense_Mutation_p.Y516*|MCM8_uc002wml.2_Nonsense_Mutation_p.Y476*|MCM8_uc010gbp.2_Nonsense_Mutation_p.Y429*|MCM8_uc002wmm.2_Nonsense_Mutation_p.Y14*	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	476	MCM.				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			skin(1)	1						GTGGCGTGTATGTTTGTGGTA	0.408													A	5958554	T	A	5958554	4	1	168	1	0	0	0	0	0	1	0	0	9393	1471	51	5	1474	5	MCM8	20	5958554	Nonsense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	3317370	5958554	57066966	558	92634											
LRRN4	164312	broad.mit.edu	37	chr20	6022174	6022174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgtcttccccgctgaGgccggggcaccggcaccgcc	15	16	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:6022174G>A	uc002wmo.2	-	5	1941	c.1717C>T	c.(1717-1719)CTC>TTC	p.L573F		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	573	Extracellular (Potential).					integral to membrane				skin(3)	3						TCCCCGCTGAGGCCGGGGCAC	0.697													A	6022174	G	A	6022174	3	1	168	1	0	0	0	0	1	0	0	0	9037	1000	35	4	509	4	LRRN4	20	6022174	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	63620	6022174	57003346	559	92635											
PLK1S1	55857	broad.mit.edu	37	chr20	21224925	21224925	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcaatttaaaatctaaTggtgagagagataatcggac	10	4	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:21224925T>A	uc002wsb.2	+	13	2056	c.1923T>A	c.(1921-1923)AAT>AAA	p.N641K	PLK1S1_uc010zsh.1_Missense_Mutation_p.N538K|PLK1S1_uc010zsi.1_Missense_Mutation_p.N508K|PLK1S1_uc010zsj.1_RNA|PLK1S1_uc002wsd.2_RNA	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1 isoform 1	641					spindle organization	centrosome	protein kinase binding				0						TAAAATCTAATGGTGAGAGAG	0.333													A	21224925	T	A	21224925	3	1	168	1	0	0	0	0	1	0	0	0	12095	1478	51	5	1968	5	PLK1S1	20	21224925	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	15202751	21224925	41800595	560	92636											
C20orf185	359710	broad.mit.edu	37	chr20	31652354	31652354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatagaactggacatcaaCgtgagtaaccagaggggcct	11	9	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:31652354C>T	uc002wym.1	+	7	744	c.744C>T	c.(742-744)AAC>AAT	p.N248N		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	248					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						TGGACATCAACGTGAGTAACC	0.597													T	31652354	C	T	31652354	2	4	168	1	0	0	0	0	0	0	0	1	2097	550	19	1		1	C20orf185	20	31652354	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	10427429	31652354	31373166	561	92637											
ZNF341	84905	broad.mit.edu	37	chr20	32346586	32346586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagtcattcaccaaaaaCtttgacctgcagcagcacat	6	12	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:32346586C>T	uc002wzy.2	+	7	1022	c.1002C>T	c.(1000-1002)AAC>AAT	p.N334N	ZNF341_uc002wzx.2_Silent_p.N327N|ZNF341_uc010geq.2_Silent_p.N244N|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	334	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TCACCAAAAACTTTGACCTGC	0.547													T	32346586	C	T	32346586	2	4	168	1	0	0	0	0	0	0	0	1	17854	564	20	4		4	ZNF341	20	32346586	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	694232	32346586	30678934	562	92638											
CHD6	84181	broad.mit.edu	37	chr20	40044125	40044125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaggtccatagctgactCcccatgccagccattgagga	12	12	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:40044125C>T	uc002xka.1	-	34	6818	c.6640G>A	c.(6640-6642)GAG>AAG	p.E2214K	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2214					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				ATAGCTGACTCCCCATGCCAG	0.597													T	40044125	C	T	40044125	3	4	168	1	0	0	0	0	1	0	0	0	3329	864	30	4	1523	4	CHD6	20	40044125	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	7697539	40044125	22981395	563	92639											
SEMG1	6406	broad.mit.edu	37	chr20	43837255	43837255	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggattggatattgtaattatAgagcaggaagatgacagtga	13	2	0	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:43837255A>T	uc002xni.2	+	2	1374	c.1317A>T	c.(1315-1317)ATA>ATT	p.I439I	SEMG1_uc002xnj.2_Silent_p.I379I|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.I379I	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	439	42 AA repeat 3.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				TTGTAATTATAGAGCAGGAAG	0.408													T	43837255	A	T	43837255	2	4	168	1	0	0	0	0	0	0	0	1	14044	410	15	5		5	SEMG1	20	43837255	Silent	SNP	A	TCGA-CG-4437-01A-01D-1800-08	3793130	43837255	19188265	564	92640											
SALL4	57167	broad.mit.edu	37	chr20	50408838	50408838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgaagccgctttactgTggcttcatcctcactcgcca	8	16	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:50408838T>C	uc002xwh.3	-	2	285	c.184A>G	c.(184-186)ACA>GCA	p.T62A	SALL4_uc010gii.2_Missense_Mutation_p.T62A|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	62					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CGCTTTACTGTGGCTTCATCC	0.502													C	50408838	T	C	50408838	3	2	168	1	0	0	0	0	1	0	0	0	13813	1696	59	3	2989	3	SALL4	20	50408838	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	6571583	50408838	12616682	565	92641											
ZBTB46	140685	broad.mit.edu	37	chr20	62378595	62378595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgatgcccacgctggcGgcggacatgaagacgcggct	15	13	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:62378595G>A	uc002ygv.1	-	5	1659	c.1458C>T	c.(1456-1458)GCC>GCT	p.A486A	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCACGCTGGCGGCGGACATGA	0.557													A	62378595	G	A	62378595	2	1	168	1	0	0	0	0	0	0	0	1	17544	1103	39	1		1	ZBTB46	20	62378595	Silent	SNP	G	TCGA-CG-4437-01A-01D-1800-08	11969757	62378595	646925	566	92642											
NPBWR2	2832	broad.mit.edu	37	chr20	62737475	62737475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcacggcccgcagcctgCgcaggaggtctgtgtagagc	16	14	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr20:62737475C>T	uc011abt.1	-	1	710	c.710G>A	c.(709-711)CGC>CAC	p.R237H		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	237	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCGCAGCCTGCGCAGGAGGTC	0.667													T	62737475	C	T	62737475	3	4	168	1	0	0	0	0	1	0	0	0	10569	768	27	1	294	1	NPBWR2	20	62737475	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	358880	62737475	288045	567	92643											
BAGE2	85319	broad.mit.edu	37	chr21	11097572	11097572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccatcttcaggctccaaCctccagctcaccacagggga	9	16	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:11097572C>A	uc002yit.1	-	2	298	c.90G>T	c.(88-90)AGG>AGT	p.R30S	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			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)		caggctccaacctccagctca	0.09													A	11097572	C	A	11097572	3	1	168	1	0	0	0	0	1	0	0	0	1292	506	18	5	251	5	BAGE2	21	11097572	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08		11097572	37032323	568	92644											
APP	351	broad.mit.edu	37	chr21	27394255	27394255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagggttcctcagcctcttCctctacctcatcaccatcct	5	17	5	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:27394255C>T	uc002ylz.2	-	6	966	c.766G>A	c.(766-768)GAA>AAA	p.E256K	APP_uc010glk.2_Missense_Mutation_p.E251K|APP_uc002yma.2_Missense_Mutation_p.E256K|APP_uc011ach.1_Missense_Mutation_p.E200K|APP_uc002ymb.2_Missense_Mutation_p.E256K|APP_uc010glj.2_Missense_Mutation_p.E200K|APP_uc011aci.1_Missense_Mutation_p.E221K|APP_uc011acj.1_Missense_Mutation_p.E256K	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	256	Extracellular (Potential).|Asp/Glu-rich (acidic).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				tcagcctcttcctctacctca	0.139													T	27394255	C	T	27394255	3	4	168	1	0	0	0	0	1	0	0	0	815	864	30	4	1598	4	APP	21	27394255	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	16296683	27394255	20735640	569	92645											
GRIK1	2897	broad.mit.edu	37	chr21	31015175	31015175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttcataaatctgggtcCgaggcgccatggcttatgtc	12	10	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:31015175C>T	uc002yno.1	-	7	1533	c.1069G>A	c.(1069-1071)GGA>AGA	p.G357R	GRIK1_uc002ynn.2_Missense_Mutation_p.G357R|GRIK1_uc011acs.1_Missense_Mutation_p.G357R|GRIK1_uc011act.1_Missense_Mutation_p.G301R|GRIK1_uc010glq.1_Missense_Mutation_p.G215R|GRIK1_uc002ynr.2_Missense_Mutation_p.G357R	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	357	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AATCTGGGTCCGAGGCGCCAT	0.572													T	31015175	C	T	31015175	3	4	168	1	0	0	0	0	1	0	0	0	6773	661	23	1	1891	1	GRIK1	21	31015175	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3620920	31015175	17114720	570	92646											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31691743	31691743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtccagagcaagatggaCgacacgtgctgaacacatgg	12	10	0	3	rs146155445		TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:31691743C>T	uc002ynw.2	-	1	865	c.611G>A	c.(610-612)CGT>CAT	p.R204H		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	204						intermediate filament				ovary(1)	1						GCAAGATGGACGACACGTGCT	0.488													T	31691743	C	T	31691743	3	4	168	1	0	0	0	0	1	0	0	0	8543	536	19	1	25	1	KRTAP26-1	21	31691743	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	676568	31691743	16438152	571	92647											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709495	31709495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattcagggttctgagaCtgacactgacattggctaga	12	8	2	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:31709495C>T	uc002ynx.1	-	1	518	c.492G>A	c.(490-492)CAG>CAA	p.Q164Q		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	164						intermediate filament				ovary(2)	2						GGTTCTGAGACTGACACTGAC	0.488													T	31709495	C	T	31709495	2	4	168	1	0	0	0	0	0	0	0	1	8544	564	20	4		4	KRTAP27-1	21	31709495	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	17752	31709495	16420400	572	92648											
CRYZL1	9946	broad.mit.edu	37	chr21	34962174	34962174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgatttttctgaacaGcttccatggaaacttttgcc	6	10	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:34962174G>A	uc011adw.1	-	13	1184	c.1004C>T	c.(1003-1005)GCT>GTT	p.A335V	DONSON_uc002ysn.1_Intron|DONSON_uc002ysj.2_5'Flank|DONSON_uc002ysk.2_5'Flank|DONSON_uc002ysl.2_5'Flank|DONSON_uc010gme.2_5'Flank|DONSON_uc002ysm.2_5'UTR	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	335					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						TTTCTGAACAGCTTCCATGGA	0.363													A	34962174	G	A	34962174	3	1	168	1	0	0	0	0	1	0	0	0	3923	971	34	2	49	2	CRYZL1	21	34962174	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3252679	34962174	13167721	573	92649											
DSCR3	10311	broad.mit.edu	37	chr21	38639585	38639585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaatcttgatgtccaggGcggtccccatctccaattct	7	12	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:38639585G>A	uc002ywf.1	-	2	250	c.11C>T	c.(10-12)GCC>GTC	p.A4V	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_5'UTR|DSCR3_uc010gnl.2_Missense_Mutation_p.A4V|DSCR3_uc011aeg.1_Missense_Mutation_p.A4V|DSCR3_uc011aeh.1_Missense_Mutation_p.A4V	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	4					vacuolar transport	nucleus|retromer complex					0						GATGTCCAGGGCGGTCCCCAT	0.507													A	38639585	G	A	38639585	3	1	168	1	0	0	0	0	1	0	0	0	4771	1203	42	2	914	2	DSCR3	21	38639585	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	3677411	38639585	9490310	574	92650											
DNMT3L	29947	broad.mit.edu	37	chr21	45680690	45680690	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcaccttctatatttcGctggttagccttgacttcat	5	12	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr21:45680690G>A	uc002zeg.1	-	3	623	c.139C>T	c.(139-141)CGA>TGA	p.R47*	DNMT3L_uc002zeh.1_Nonsense_Mutation_p.R47*	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	47	ADD.				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			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TCTATATTTCGCTGGTTAGCC	0.323													A	45680690	G	A	45680690	4	1	168	1	0	0	0	0	0	1	0	0	4678	1095	38	1	1064	1	DNMT3L	21	45680690	Nonsense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	7041105	45680690	2449205	575	92651											
GAB4	128954	broad.mit.edu	37	chr22	17451031	17451031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagattttgcatggctgTgtttctcctcatgatgaatg	11	7	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:17451031T>C	uc002zlw.2	-	4	847	c.739A>G	c.(739-741)ACA>GCA	p.T247A	GAB4_uc010gqs.1_Intron	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	247										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCATGGCTGTGTTTCTCCTC	0.552													C	17451031	T	C	17451031	3	2	168	1	0	0	0	0	1	0	0	0	6151	1696	59	3	1013	3	GAB4	22	17451031	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08		17451031	33853535	576	92652											
DGCR2	9993	broad.mit.edu	37	chr22	19028772	19028772	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccgtctgggccgtaatcaaAgccagggatcctgcggccga	13	14	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:19028772A>T	uc002zoq.1	-	9	1443	c.1195T>A	c.(1195-1197)TTT>ATT	p.F399I	DGCR2_uc002zor.1_Missense_Mutation_p.F175I|DGCR2_uc011agr.1_Missense_Mutation_p.F355I	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	399	Cytoplasmic (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					CCGTAATCAAAGCCAGGGATC	0.612													T	19028772	A	T	19028772	3	4	168	1	0	0	0	0	1	0	0	0	4461	72	3	5	465	5	DGCR2	22	19028772	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	1577741	19028772	32275794	577	92653											
UFD1L	7353	broad.mit.edu	37	chr22	19442339	19442339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccaagtttaaattcaTaattgggaattcctctgtaa	5	7	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:19442339T>C	uc002zpm.2	-	11	912	c.782A>G	c.(781-783)TAT>TGT	p.Y261C	UFD1L_uc002zpo.2_Missense_Mutation_p.Y261C|UFD1L_uc011agy.1_Missense_Mutation_p.Y261C|UFD1L_uc002zpp.2_Missense_Mutation_p.Y214C	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	261					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					TTTAAATTCATAATTGGGAAT	0.358													C	19442339	T	C	19442339	3	2	168	1	0	0	0	0	1	0	0	0	16932	1406	49	3	149	3	UFD1L	22	19442339	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	413567	19442339	31862227	578	92654											
SRRD	402055	broad.mit.edu	37	chr22	26887495	26887495	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatggacatatttaatgatAcctctgtccactggttccct	6	11	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:26887495A>T	uc010gve.2	+	7	884	c.877A>T	c.(877-879)ACC>TCC	p.T293S	SRRD_uc003acp.3_Missense_Mutation_p.T286S|uc003acu.1_5'Flank	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	293					rhythmic process						0						ATTTAATGATACCTCTGTCCA	0.403													T	26887495	A	T	26887495	3	4	168	1	0	0	0	0	1	0	0	0	15166	391	14	5	903	5	SRRD	22	26887495	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	7445156	26887495	24417071	579	92655											
PES1	23481	broad.mit.edu	37	chr22	30977396	30977396	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggcctgaccctcgagCtagtaggcaaagggaaggtc	15	10	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:30977396C>G	uc003aij.1	-	8	822	c.748_splice	c.e8-1	p.L250_splice	PES1_uc003aik.1_Splice_Site_p.L250_splice|PES1_uc003ail.1_Splice_Site_p.L233_splice|PES1_uc003aim.1_Splice_Site_p.L250_splice|PES1_uc003ain.1_Splice_Site_p.L111_splice|PES1_uc003aio.1_Splice_Site_p.L111_splice	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain						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				0						GACCCTCGAGCTAGTAGGCAA	0.632													G	30977396	C	G	30977396	5	3	168	1	0	0	0	0	0	0	1	0	11733	811	28	5	1051	5	PES1	22	30977396	Splice_Site	SNP	C	TCGA-CG-4437-01A-01D-1800-08	4089901	30977396	20327170	580	92656											
PLA2G3	50487	broad.mit.edu	37	chr22	31531724	31531724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtcactggctccaggaCttctgctgcctgtcgggtct	13	12	3	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:31531724C>A	uc003aka.2	-	7	1644	c.1515G>T	c.(1513-1515)AAG>AAT	p.K505N		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	505					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						GGCTCCAGGACTTCTGCTGCC	0.612													A	31531724	C	A	31531724	3	1	168	1	0	0	0	0	1	0	0	0	12000	564	20	5	18	5	PLA2G3	22	31531724	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	554328	31531724	19772842	581	92657											
PISD	23761	broad.mit.edu	37	chr22	32058137	32058137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctgctatacctgctccGccacggcgcgaccccgtgca	11	19	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:32058137G>A	uc003alm.3	-	1	65	c.58C>T	c.(58-60)CGG>TGG	p.R20W	PISD_uc003aln.3_Missense_Mutation_p.R20W	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	20					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	TACCTGCTCCGCCACGGCGCG	0.642													A	32058137	G	A	32058137	3	1	168	1	0	0	0	0	1	0	0	0	11946	1102	38	1		1	PISD	22	32058137	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	526413	32058137	19246429	582	92658											
YWHAH	7533	broad.mit.edu	37	chr22	32352156	32352156	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatgaacctctctccaatGaagatcgaaatctcctctct	5	12	3	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:32352156G>A	uc003alz.2	+	2	359	c.118G>A	c.(118-120)GAA>AAA	p.E40K	YWHAH_uc010gwl.2_5'UTR|YWHAH_uc003ama.2_5'UTR|YWHAH_uc010gwm.2_Missense_Mutation_p.E27K	NM_003405	NP_003396	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan	40					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			central_nervous_system(1)	1						TCTCTCCAATGAAGATCGAAA	0.448													A	32352156	G	A	32352156	3	1	168	1	0	0	0	0	1	0	0	0	17501	1291	45	4	124	4	YWHAH	22	32352156	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	294019	32352156	18952410	583	92659											
SLC5A4	6527	broad.mit.edu	37	chr22	32630885	32630885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcaccagtaccacaaaGctgtaatgggcattccaaat	8	10	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:32630885G>T	uc003ami.2	-	8	862	c.860C>A	c.(859-861)GCT>GAT	p.A287D		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	287	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						GTACCACAAAGCTGTAATGGG	0.363													T	32630885	G	T	32630885	3	4	168	1	0	0	0	0	1	0	0	0	14667	971	34	5	1151	5	SLC5A4	22	32630885	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	278729	32630885	18673681	584	92660											
APOL5	80831	broad.mit.edu	37	chr22	36122594	36122594	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtttggccctagcacCtgtgacagcaggaggcagtc	14	12	0	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:36122594C>G	uc003aof.2	+	3	479	c.479C>G	c.(478-480)CCT>CGT	p.P160R		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	160					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						GCCCTAGCACCTGTGACAGCA	0.542													G	36122594	C	G	36122594	3	3	168	1	0	0	0	0	1	0	0	0	809	681	24	5	489	5	APOL5	22	36122594	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3491709	36122594	15181972	585	92661											
APOL1	8542	broad.mit.edu	37	chr22	36661728	36661728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgaggcattgggaaggaCatccgtgccctcagacgagc	13	12	1	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:36661728C>T	uc003apf.2	+	6	1014	c.846C>T	c.(844-846)GAC>GAT	p.D282D	APOL1_uc011amn.1_Silent_p.D159D|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Silent_p.D298D|APOL1_uc011amo.1_Silent_p.D159D|APOL1_uc011amp.1_Silent_p.D282D|APOL1_uc011amq.1_Silent_p.D264D|APOL1_uc010gwx.2_Silent_p.D159D	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	282					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)|ovary(1)	3						TTGGGAAGGACATCCGTGCCC	0.527													T	36661728	C	T	36661728	2	4	168	1	0	0	0	0	0	0	0	1	805	477	17	4		4	APOL1	22	36661728	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	539134	36661728	14642838	586	92662											
KCTD17	79734	broad.mit.edu	37	chr22	37458585	37458585	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgttacaagccagaggcacCcggatgtgaggccccagatc	12	13	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:37458585C>G	uc010gxb.2	+	9	918	c.896C>G	c.(895-897)CCC>CGC	p.P299R	KCTD17_uc011amv.1_Missense_Mutation_p.P282R|KCTD17_uc010gxc.2_3'UTR	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerisation domain	306	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0						CCAGAGGCACCCGGATGTGAG	0.348													G	37458585	C	G	37458585	3	3	168	1	0	0	0	0	1	0	0	0	8104	623	22	5	875	5	KCTD17	22	37458585	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	796857	37458585	13845981	587	92663											
FAM109B	150368	broad.mit.edu	37	chr22	42473397	42473397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggggcccagggaccccaCcgacccccagtggcactggc	16	17	0	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:42473397C>A	uc003bbz.2	+	3	287	c.100C>A	c.(100-102)CCG>ACG	p.P34T	C22orf32_uc003bca.2_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	hypothetical protein LOC150368	34	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						AGGGACCCCACCGACCCCCAG	0.642													A	42473397	C	A	42473397	3	1	168	1	0	0	0	0	1	0	0	0	5395	507	18	5	102	5	FAM109B	22	42473397	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	5014812	42473397	8831169	588	92664											
EFCAB6	64800	broad.mit.edu	37	chr22	43924769	43924769	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggaggaagtcgttgtaggaGatttttgaagacagcgtctt	14	5	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:43924769G>C	uc003bdy.1	-	32	4685	c.4470C>G	c.(4468-4470)ATC>ATG	p.I1490M	EFCAB6_uc003bdz.1_Missense_Mutation_p.I1338M|EFCAB6_uc010gzi.1_Missense_Mutation_p.I1338M	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1490	Interaction with AR.|Interaction with PARK7.|EF-hand 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CGTTGTAGGAGATTTTTGAAG	0.502													C	43924769	G	C	43924769	3	2	168	1	0	0	0	0	1	0	0	0	4939	932	33	5	39	5	EFCAB6	22	43924769	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	1451372	43924769	7379797	589	92665											
PANX2	56666	broad.mit.edu	37	chr22	50616220	50616220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaccgcgaccacatcaagtCgctcaaccggctggacttca	9	15	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chr22:50616220C>T	uc003bjn.3	+	2	1079	c.1079C>T	c.(1078-1080)TCG>TTG	p.S360L	PANX2_uc003bjp.3_Missense_Mutation_p.S226L|PANX2_uc003bjo.3_Missense_Mutation_p.S360L	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	360	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CACATCAAGTCGCTCAACCGG	0.627													T	50616220	C	T	50616220	3	4	168	1	0	0	0	0	1	0	0	0	11421	893	31	1	1085	1	PANX2	22	50616220	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	6691451	50616220	688346	590	92666											
MAGEB6	158809	broad.mit.edu	37	chrX	26212099	26212099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcttcctcatcctcttctCgcgcttgtctgggtgattgt	8	13	5	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:26212099C>T	uc004dbr.2	+	2	285	c.136C>T	c.(136-138)CGC>TGC	p.R46C	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	46	Ser-rich.							p.R46H(1)		ovary(3)	3						ATCCTCTTCTCGCGCTTGTCT	0.552													T	26212099	C	T	26212099	3	4	168	1	0	0	0	0	1	0	0	0	9179	884	31	1	138	1	MAGEB6	23	26212099	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08		26212099	129058461	591	92667											
SYTL5	94122	broad.mit.edu	37	chrX	37961644	37961644	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccttagtgtcctcgcAgttatctacaaacactcacc	6	13	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:37961644A>T	uc004ddu.2	+	11	1646	c.1112A>T	c.(1111-1113)CAG>CTG	p.Q371L	SYTL5_uc004ddv.2_Missense_Mutation_p.Q371L|SYTL5_uc004ddx.2_Missense_Mutation_p.Q371L	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	371					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						GTGTCCTCGCAGTTATCTACA	0.403													T	37961644	A	T	37961644	3	4	168	1	0	0	0	0	1	0	0	0	15483	188	7	5	1146	5	SYTL5	23	37961644	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	11749545	37961644	117308916	592	92668											
MAGED1	9500	broad.mit.edu	37	chrX	51640305	51640305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctttttccctcccaggCaaataagttggtcaagtact	6	11	1	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:51640305C>T	uc004dpm.2	+	5	1519	c.1424C>T	c.(1423-1425)GCA>GTA	p.A475V	MAGED1_uc004dpn.2_Missense_Mutation_p.A531V|MAGED1_uc004dpo.2_Missense_Mutation_p.A475V	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	475	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			ovary(3)	3	Ovarian(276;0.236)					CCCTCCCAGGCAAATAAGTTG	0.418										Multiple Myeloma(10;0.10)			T	51640305	C	T	51640305	3	4	168	1	0	0	0	0	1	0	0	0	9183	724	25	2	1610	2	MAGED1	23	51640305	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	13678661	51640305	103630255	593	92669											
HEPH	9843	broad.mit.edu	37	chrX	65417541	65417541	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggctcatcttaccctggCttggttgccaagccctttga	9	13	2	1			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:65417541C>A	uc011moz.1	+	10	1587	c.1527C>A	c.(1525-1527)GGC>GGA	p.G509G	HEPH_uc004dwn.2_Silent_p.G509G|HEPH_uc004dwo.2_Silent_p.G239G|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Silent_p.G509G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	506	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CTTACCCTGGCTTGGTTGCCA	0.458													A	65417541	C	A	65417541	2	1	168	1	0	0	0	0	0	0	0	1	7054	784	28	5		5	HEPH	23	65417541	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	13777236	65417541	89853019	594	92670											
ZMYM3	9203	broad.mit.edu	37	chrX	70466474	70466474	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcccattttcctctggggTcctcactgtgttgctgttct	8	12	3	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:70466474T>A	uc004dzh.1	-	14	2470	c.2383A>T	c.(2383-2385)ACC>TCC	p.T795S	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.T795S|ZMYM3_uc004dzj.1_Intron	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	795					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					TCCTCTGGGGTCCTCACTGTG	0.512													A	70466474	T	A	70466474	3	1	168	1	0	0	0	0	1	0	0	0	17698	1667	58	5	1777	5	ZMYM3	23	70466474	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	5048933	70466474	84804086	595	92671											
SLC16A2	6567	broad.mit.edu	37	chrX	73749163	73749163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgatggcttcttcatcaCcatcatggcccccattgcat	7	14	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:73749163C>G	uc004ebt.2	+	5	1674	c.1508C>G	c.(1507-1509)ACC>AGC	p.T503S	SLC16A2_uc010nlr.1_Intron	NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	429	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	TTCTTCATCACCATCATGGCC	0.587													G	73749163	C	G	73749163	3	3	168	1	0	0	0	0	1	0	0	0	14408	507	18	5	1526	5	SLC16A2	23	73749163	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	3282689	73749163	81521397	596	92672											
HDX	139324	broad.mit.edu	37	chrX	83576953	83576953	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatacactgaatgaggtatCatcaggctccagtgaggcat	11	8	2	4			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:83576953C>A	uc004eek.1	-	10	2126	c.2017G>T	c.(2017-2019)GAT>TAT	p.D673Y	HDX_uc011mqv.1_Missense_Mutation_p.D673Y|HDX_uc004eel.1_Missense_Mutation_p.D615Y	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	673						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						AATGAGGTATCATCAGGCTCC	0.358													A	83576953	C	A	83576953	3	1	168	1	0	0	0	0	1	0	0	0	7026	826	29	5	59	5	HDX	23	83576953	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	9827790	83576953	71693607	597	92673											
TBC1D8B	54885	broad.mit.edu	37	chrX	106083920	106083920	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgttaatgacatggctActaatcctgactattatact	7	8	0	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:106083920A>T	uc004emo.2	+	10	1690	c.1525A>T	c.(1525-1527)ACT>TCT	p.T509S	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.T509S	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	509	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TGACATGGCTACTAATCCTGA	0.373													T	106083920	A	T	106083920	3	4	168	1	0	0	0	0	1	0	0	0	15623	391	14	5	1563	5	TBC1D8B	23	106083920	Missense_Mutation	SNP	A	TCGA-CG-4437-01A-01D-1800-08	22506967	106083920	49186640	598	92674											
THOC2	57187	broad.mit.edu	37	chrX	122820398	122820398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatacacgtttttctttacCtggtaaaacttgaatttgaa	5	7	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:122820398C>G	uc004etu.2	-	8	800	c.768G>C	c.(766-768)CAG>CAC	p.Q256H	THOC2_uc011muh.1_Missense_Mutation_p.Q177H|THOC2_uc011mui.1_Missense_Mutation_p.Q141H	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	256					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TTTTCTTTACCTGGTAAAACT	0.284													G	122820398	C	G	122820398	3	3	168	1	0	0	0	0	1	0	0	0	15862	695	24	5	4137	5	THOC2	23	122820398	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	16736478	122820398	32450162	599	92675											
THOC2	57187	broad.mit.edu	37	chrX	122829949	122829949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccaattcagcaatcaGcttggcataaccttcattct	5	13	4	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:122829949G>C	uc004etu.2	-	7	555	c.523C>G	c.(523-525)CTG>GTG	p.L175V	THOC2_uc011muh.1_Missense_Mutation_p.L96V|THOC2_uc011mui.1_Missense_Mutation_p.L60V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	175					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TCAGCAATCAGCTTGGCATAA	0.274													C	122829949	G	C	122829949	3	2	168	1	0	0	0	0	1	0	0	0	15862	962	34	5	4386	5	THOC2	23	122829949	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	9551	122829949	32440611	600	92676											
GPC4	2239	broad.mit.edu	37	chrX	132439865	132439865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggtgatgtggtctgaagcGagcactgaaggcactttcag	16	7	2	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:132439865G>A	uc004exc.1	-	6	1302	c.1090C>T	c.(1090-1092)CGC>TGC	p.R364C	GPC4_uc011mvg.1_Missense_Mutation_p.R294C	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	364					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					GGTCTGAAGCGAGCACTGAAG	0.552													A	132439865	G	A	132439865	3	1	168	1	0	0	0	0	1	0	0	0	6600	1058	37	1	596	1	GPC4	23	132439865	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	9609916	132439865	22830695	601	92677											
MAMLD1	10046	broad.mit.edu	37	chrX	149638353	149638353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagaaaatcaacagcgtgCcggctgtagaccaggagctt	12	9	1	2			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:149638353C>T	uc004fee.1	+	3	584	c.508C>T	c.(508-510)CCG>TCG	p.P170S	MAMLD1_uc011mxt.1_Missense_Mutation_p.P132S|MAMLD1_uc011mxu.1_Missense_Mutation_p.P145S|MAMLD1_uc011mxv.1_Missense_Mutation_p.P145S|MAMLD1_uc011mxw.1_Missense_Mutation_p.P97S	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	170					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CAACAGCGTGCCGGCTGTAGA	0.483													T	149638353	C	T	149638353	3	4	168	1	0	0	0	0	1	0	0	0	9208	739	26	2	518	2	MAMLD1	23	149638353	Missense_Mutation	SNP	C	TCGA-CG-4437-01A-01D-1800-08	17198488	149638353	5632207	602	92678											
PASD1	139135	broad.mit.edu	37	chrX	150832640	150832640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggtgaatccattgtaCagggcagacccagtggacct	12	11	0	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:150832640C>T	uc004fev.3	+	11	1223	c.891C>T	c.(889-891)TAC>TAT	p.Y297Y		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	297						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCATTGTACAGGGCAGACC	0.532													T	150832640	C	T	150832640	2	4	168	1	0	0	0	0	0	0	0	1	11471	489	17	4		4	PASD1	23	150832640	Silent	SNP	C	TCGA-CG-4437-01A-01D-1800-08	1194287	150832640	4437920	603	92679											
FLNA	2316	broad.mit.edu	37	chrX	153580566	153580566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggcactccagcttcaGctctctccaggccagggccc	9	18	2	0			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:153580566G>A	uc004fkk.2	-	41	7001	c.6752C>T	c.(6751-6753)GCT>GTT	p.A2251V	FLNA_uc004fki.2_Missense_Mutation_p.A294V|FLNA_uc011mzn.1_Missense_Mutation_p.A384V|FLNA_uc010nuu.1_Missense_Mutation_p.A2243V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2251	Filamin 21.				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)					TCCAGCTTCAGCTCTCTCCAG	0.692													A	153580566	G	A	153580566	3	1	168	1	0	0	0	0	1	0	0	0	5933	971	34	2	1223	2	FLNA	23	153580566	Missense_Mutation	SNP	G	TCGA-CG-4437-01A-01D-1800-08	2747926	153580566	1689994	604	92680											
GAB3	139716	broad.mit.edu	37	chrX	153925470	153925470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgagaggtttctcaggTccagaggaggtggccgtgct	16	8	1	3			TCGA-CG-4437-01A-01D-1800-08	TCGA-CG-4437-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7af611a-7351-4fe8-b3b3-fabe89a44ea6	cd37ded9-4afc-410a-b58b-e20900435be4	g.chrX:153925470T>C	uc004fmj.1	-	7	1409	c.1361A>G	c.(1360-1362)GAC>GGC	p.D454G	GAB3_uc004fmk.1_Missense_Mutation_p.D455G|GAB3_uc010nve.1_Missense_Mutation_p.D455G|GAB3_uc004fml.1_Missense_Mutation_p.D74G	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	454										ovary(1)	1	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)					GTTTCTCAGGTCCAGAGGAGG	0.507													C	153925470	T	C	153925470	3	2	168	1	0	0	0	0	1	0	0	0	6150	1667	58	3	415	3	GAB3	23	153925470	Missense_Mutation	SNP	T	TCGA-CG-4437-01A-01D-1800-08	344904	153925470	1345090	605	92681											
KIAA1751	85452	broad.mit.edu	37	chr1	1895280	1895280	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttaccaacgtgatctttttCttgtacactttgccaatatc	4	10	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:1895280C>G	uc001aim.1	-	14	1758	c.1602G>C	c.(1600-1602)AAG>AAC	p.K534N	KIAA1751_uc009vkz.1_Missense_Mutation_p.K534N	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	534										pancreas(1)	1	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGATCTTTTTCTTGTACACTT	0.547													G	1895280	C	G	1895280	3	3	169	1	0	0	0	0	1	0	0	0	8256	912	32	5	706	5	KIAA1751	1	1895280	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08		1895280	247355341	1	92682											
LRRC47	57470	broad.mit.edu	37	chr1	3712477	3712477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagttctcggaggcagttGtcagcagccgccagttcact	12	12	3	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:3712477G>A	uc001akx.1	-	1	592	c.564C>T	c.(562-564)GAC>GAT	p.D188D		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	188	LRR 5.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	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)		GGAGGCAGTTGTCAGCAGCCG	0.687													A	3712477	G	A	3712477	2	1	169	1	0	0	0	0	0	0	0	1	9004	1368	48	4		4	LRRC47	1	3712477	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	1817197	3712477	245538144	2	92683											
RNF207	388591	broad.mit.edu	37	chr1	6270330	6270330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggagcagctctctcactTggccaccttgctgcccaccc	8	18	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:6270330T>G	uc001amg.2	+	9	1022	c.848T>G	c.(847-849)TTG>TGG	p.L283W	RNF207_uc001amh.2_Silent_p.L171L|RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	283						intracellular	zinc ion binding				0	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)		CTCTCTCACTTGGCCACCTTG	0.687													G	6270330	T	G	6270330	3	3	169	1	0	0	0	0	1	0	0	0	13474	1821	63	5	878	5	RNF207	1	6270330	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	2557853	6270330	242980291	3	92684											
ASAP3	55616	broad.mit.edu	37	chr1	23763414	23763414	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgccctcaccaacaactcgGaggggcccagcaggtccaag	11	17	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:23763414G>C	uc001bha.2	-	15	1590	c.1466C>G	c.(1465-1467)TCC>TGC	p.S489C	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.S358C|ASAP3_uc010oea.1_Missense_Mutation_p.S480C|ASAP3_uc001bhb.2_Missense_Mutation_p.S12C	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	489	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CAACAACTCGGAGGGGCCCAG	0.672													C	23763414	G	C	23763414	3	2	169	1	0	0	0	0	1	0	0	0	1012	1174	41	5	1289	5	ASAP3	1	23763414	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	17493084	23763414	225487207	4	92685											
SLC9A1	6548	broad.mit.edu	37	chr1	27428929	27428929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccatgcccccgctctcCaccagctcgatggcctgctt	8	19	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:27428929C>T	uc001bnm.2	-	8	2393	c.1767G>A	c.(1765-1767)GTG>GTA	p.V589V	SLC9A1_uc001bnl.2_Silent_p.V93V|SLC9A1_uc010ofk.1_Silent_p.V250V	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	589	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				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)	CCCCGCTCTCCACCAGCTCGA	0.602													T	27428929	C	T	27428929	2	4	169	1	0	0	0	0	0	0	0	1	14709	581	21	4		4	SLC9A1	1	27428929	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	3665515	27428929	221821692	5	92686											
PUM1	9698	broad.mit.edu	37	chr1	31418206	31418206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttacctgtcccttaaacGcatcgatgataaattgcaaa	5	11	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:31418206G>A	uc001bsi.1	-	18	3088	c.2975C>T	c.(2974-2976)GCG>GTG	p.A992V	PUM1_uc001bsf.1_Missense_Mutation_p.A660V|PUM1_uc001bsg.1_Missense_Mutation_p.A726V|PUM1_uc001bsh.1_Missense_Mutation_p.A994V|PUM1_uc001bsj.1_Missense_Mutation_p.A968V|PUM1_uc010oga.1_Missense_Mutation_p.A850V|PUM1_uc001bsk.1_Missense_Mutation_p.A1030V|PUM1_uc010ogb.1_Missense_Mutation_p.A933V|SNORD103A_uc009vts.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	992	PUM-HD.|Pumilio 5.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		TCCCTTAAACGCATCGATGAT	0.408													A	31418206	G	A	31418206	3	1	169	1	0	0	0	0	1	0	0	0	12825	1087	38	1	605	1	PUM1	1	31418206	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	3989277	31418206	217832415	6	92687											
KIAA0754	643314	broad.mit.edu	37	chr1	39878360	39878360	+	Frame_Shift_Del	DEL	T	T	-													ttcagattcattcctaaataTttttccagagaaacaagtta							TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:39878360delT	uc009vvt.1	+	1	3185	c.2423delT	c.(2422-2424)ATTfs	p.I808fs	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	672											0	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)			TTCCTAAATATTTTTCCAGAG	0.463													-	39878360	T	-	39878360	7	5	169	1	0	1	0	1	0	0	0	0	8192	1493	52	0	2425	0	KIAA0754	1	39878360	Frame_Shift_Del	DEL	T	TCGA-CG-4438-01A-01D-1158-08	8460154	39878360	209372261	7	92688											
COL11A1	1301	broad.mit.edu	37	chr1	103470026	103470026	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctggaagacctcttggtcCaatttctccatcttctccct	5	15	4	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:103470026C>A	uc001dul.2	-	20	2236	c.1918G>T	c.(1918-1920)GGA>TGA	p.G640*	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.G652*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G601*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G524*	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	640	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CCTCTTGGTCCAATTTCTCCA	0.303													A	103470026	C	A	103470026	4	1	169	1	0	0	0	0	0	1	0	0	3667	603	21	5	3694	5	COL11A1	1	103470026	Nonsense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	63591666	103470026	145780595	8	92689											
AKNAD1	254268	broad.mit.edu	37	chr1	109363183	109363183	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttactttcctggtgtgggctCatgttcacctttaaaggatt	9	8	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:109363183C>T	uc001dwa.2	-	14	2502	c.2233G>A	c.(2233-2235)GAG>AAG	p.E745K	AKNAD1_uc001dwb.2_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	745										ovary(3)	3						GGTGTGGGCTCATGTTCACCT	0.318													T	109363183	C	T	109363183	3	4	169	1	0	0	0	0	1	0	0	0	464	835	29	4	289	4	AKNAD1	1	109363183	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	5893157	109363183	139887438	9	92690											
KCNA3	3738	broad.mit.edu	37	chr1	111216728	111216728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggacacgatggcgatgCcccgggccggcccggagctc	16	16	0	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:111216728C>T	uc001dzv.1	-	1	928	c.704G>A	c.(703-705)GGC>GAC	p.G235D		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	235	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		GATGGCGATGCCCCGGGCCGG	0.682													T	111216728	C	T	111216728	3	4	169	1	0	0	0	0	1	0	0	0	8004	739	26	2	1027	2	KCNA3	1	111216728	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	1853545	111216728	138033893	10	92691											
UBE2Q1	55585	broad.mit.edu	37	chr1	154528413	154528413	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcagactccaccgaccAgatggggggcacagcagggt	14	12	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:154528413A>T	uc001fff.1	-	2	446	c.355T>A	c.(355-357)TGG>AGG	p.W119R		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q	119							ATP binding|protein binding|ubiquitin-protein ligase activity				0	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)			TCCACCGACCAGATGGGGGGC	0.527													T	154528413	A	T	154528413	3	4	169	1	0	0	0	0	1	0	0	0	16866	188	7	5	961	5	UBE2Q1	1	154528413	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	43311685	154528413	94722208	11	92692											
KIAA0907	22889	broad.mit.edu	37	chr1	155899127	155899127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcagttgtcatgaaccTccctcgagttgatactgcag	8	12	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:155899127T>C	uc001fmi.1	-	4	448	c.424A>G	c.(424-426)AGG>GGG	p.R142G	KIAA0907_uc001fmj.1_Missense_Mutation_p.R142G|KIAA0907_uc009wrk.1_Missense_Mutation_p.R142G|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.R142G|KIAA0907_uc001fmm.2_Missense_Mutation_p.R142G|KIAA0907_uc001fmo.2_Missense_Mutation_p.R142G	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	142											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTCATGAACCTCCCTCGAGTT	0.433													C	155899127	T	C	155899127	3	2	169	1	0	0	0	0	1	0	0	0	8199	1550	54	3	1464	3	KIAA0907	1	155899127	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	1370714	155899127	93351494	12	92693											
NTRK1	4914	broad.mit.edu	37	chr1	156837949	156837949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgcgctggctacagcGctgggaggaggagggactgg	19	10	0	0	rs150271893	byFrequency	TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:156837949G>C	uc001fqh.1	+	5	538	c.482G>C	c.(481-483)CGC>CCC	p.R161P	NTRK1_uc001fqf.1_Missense_Mutation_p.R131P|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.R161P|NTRK1_uc009wsk.1_Missense_Mutation_p.R161P	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	161	LRRCT.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGCTACAGCGCTGGGAGGAG	0.647			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			C	156837949	G	C	156837949	3	2	169	1	0	0	0	0	1	0	0	0	10706	1087	38	5	630	5	NTRK1	1	156837949	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	938822	156837949	92412672	13	92694											
FMO3	2328	broad.mit.edu	37	chr1	171086533	171086533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttccattggctgaagcTctttgcaattcctattctgt	6	10	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:171086533T>G	uc001ghi.2	+	9	1661	c.1550T>G	c.(1549-1551)CTC>CGC	p.L517R	FMO3_uc001ghh.2_Missense_Mutation_p.L517R|FMO3_uc010pmb.1_Missense_Mutation_p.L497R|FMO3_uc010pmc.1_Missense_Mutation_p.L454R	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	517					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCTGAAGCTCTTTGCAATT	0.453													G	171086533	T	G	171086533	3	3	169	1	0	0	0	0	1	0	0	0	5956	1551	54	5	1580	5	FMO3	1	171086533	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	14248584	171086533	78164088	14	92695											
HMCN1	83872	broad.mit.edu	37	chr1	186023018	186023018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgggggcaggcaattAcaaatttcaattgctgaaaa	9	6	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:186023018A>C	uc001grq.1	+	44	6991	c.6762A>C	c.(6760-6762)TTA>TTC	p.L2254F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2254	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GCAGGCAATTACAAATTTCAA	0.428													C	186023018	A	C	186023018	3	2	169	1	0	0	0	0	1	0	0	0	7220	388	14	5	6936	5	HMCN1	1	186023018	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	14936485	186023018	63227603	15	92696											
PIK3C2B	5287	broad.mit.edu	37	chr1	204429459	204429459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacactcacctgctgaTggtctgcttgacaggcctct	9	15	3	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:204429459T>G	uc001haw.2	-	8	1974	c.1495A>C	c.(1495-1497)ATC>CTC	p.I499L	PIK3C2B_uc010pqv.1_Missense_Mutation_p.I499L|PIK3C2B_uc001hax.1_Missense_Mutation_p.I499L|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	499					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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			CACCTGCTGATGGTCTGCTTG	0.522													G	204429459	T	G	204429459	3	3	169	1	0	0	0	0	1	0	0	0	11910	1464	51	5	3517	5	PIK3C2B	1	204429459	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	18406441	204429459	44821162	16	92697											
DUSP10	11221	broad.mit.edu	37	chr1	221879717	221879717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcaagctcgaggccgcGgatgcgccgccccccacctc	13	18	0	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:221879717G>A	uc001hmy.1	-	3	1085	c.903C>T	c.(901-903)TCC>TCT	p.S301S	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	301					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			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		TCGAGGCCGCGGATGCGCCGC	0.587													A	221879717	G	A	221879717	2	1	169	1	0	0	0	0	0	0	0	1	4810	1103	39	1		1	DUSP10	1	221879717	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	17450258	221879717	27370904	17	92698											
DISP1	84976	broad.mit.edu	37	chr1	223116388	223116388	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttagacaaccaaagaatgCctcagatgttaccccaatgc	6	12	1	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:223116388C>G	uc001hnu.1	+	2	370	c.223C>G	c.(223-225)CCT>GCT	p.P75A		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	75					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CCAAAGAATGCCTCAGATGTT	0.498													G	223116388	C	G	223116388	3	3	169	1	0	0	0	0	1	0	0	0	4539	739	26	5	225	5	DISP1	1	223116388	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	1236671	223116388	26134233	18	92699											
C1orf55	163859	broad.mit.edu	37	chr1	226175632	226175632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcctgcagtttggcaaCggcaacgttttccctttctt	8	12	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:226175632C>T	uc001hpu.3	-	6	1152	c.1099G>A	c.(1099-1101)GTT>ATT	p.V367I	C1orf55_uc001hpv.2_Missense_Mutation_p.V367I	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	367										lung(1)	1	Breast(184;0.197)					AGTTTGGCAACGGCAACGTTT	0.458													T	226175632	C	T	226175632	3	4	169	1	0	0	0	0	1	0	0	0	2047	536	19	1	264	1	C1orf55	1	226175632	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	3059244	226175632	23074989	19	92700											
OR2T6	254879	broad.mit.edu	37	chr1	248551027	248551027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcttcttcatggccatgAtagctaatggggtcatgatc	10	10	4	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:248551027A>G	uc001iei.1	+	1	118	c.118A>G	c.(118-120)ATA>GTA	p.I40V		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			CATGGCCATGATAGCTAATGG	0.468													G	248551027	A	G	248551027	3	3	169	1	0	0	0	0	1	0	0	0	11029	333	12	3	120	3	OR2T6	1	248551027	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	22375395	248551027	699594	20	92701											
GEN1	348654	broad.mit.edu	37	chr2	17952527	17952527	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctagtcactaaaaaactgGctcattgttccgtatgttcc	7	10	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:17952527G>C	uc002rct.2	+	7	848	c.775G>C	c.(775-777)GCT>CCT	p.A259P	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.A259P|GEN1_uc002rcu.2_Missense_Mutation_p.A259P	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	259					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAAAAAACTGGCTCATTGTTC	0.338								Homologous_recombination					C	17952527	G	C	17952527	3	2	169	1	0	0	0	0	1	0	0	0	6335	1203	42	5	797	5	GEN1	2	17952527	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		17952527	225246846	21	92702											
PLB1	151056	broad.mit.edu	37	chr2	28814580	28814580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttagggtcatgggacctGgctgccatgcagggacagag	15	11	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:28814580G>T	uc002rmb.1	+	31	2141	c.2141G>T	c.(2140-2142)TGG>TTG	p.W714L	PLB1_uc010ezj.1_Missense_Mutation_p.W703L|PLB1_uc002rmc.2_Missense_Mutation_p.W402L|PLB1_uc002rmd.1_Missense_Mutation_p.W224L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	714	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CATGGGACCTGGCTGCCATGC	0.463													T	28814580	G	T	28814580	3	4	169	1	0	0	0	0	1	0	0	0	12024	1357	47	5	2296	5	PLB1	2	28814580	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	10862053	28814580	214384793	22	92703											
SLC3A1	6519	broad.mit.edu	37	chr2	44547601	44547601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttaagtaccaattctgcCgacaaaggcagtaaagttga	10	7	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:44547601C>T	uc002ruc.3	+	10	1959	c.1881C>T	c.(1879-1881)GCC>GCT	p.A627A	PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.A349A|SLC3A1_uc002rue.3_Silent_p.A247A	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	627	Extracellular (Potential).				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				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CCAATTCTGCCGACAAAGGCA	0.408													T	44547601	C	T	44547601	2	4	169	1	0	0	0	0	0	0	0	1	14626	639	23	1		1	SLC3A1	2	44547601	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	15733021	44547601	198651772	23	92704											
XIRP2	129446	broad.mit.edu	37	chr2	168102961	168102961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagatgaaaaaggagatAttaacatgactatctattgt	9	3	1	4			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:168102961A>G	uc002udx.2	+	8	5077	c.5059A>G	c.(5059-5061)ATT>GTT	p.I1687V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I1512V|XIRP2_uc010fpq.2_Missense_Mutation_p.I1465V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1512					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAAAGGAGATATTAACATGAC	0.343													G	168102961	A	G	168102961	3	3	169	1	0	0	0	0	1	0	0	0	17427	449	16	3	5089	3	XIRP2	2	168102961	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	123555360	168102961	75096412	24	92705											
NOSTRIN	115677	broad.mit.edu	37	chr2	169721415	169721415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaatgggaaaaaaggcCattttcctgccgcttatgtg	10	8	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:169721415C>T	uc002ueg.2	+	16	1460	c.1456C>T	c.(1456-1458)CAT>TAT	p.H486Y	NOSTRIN_uc002uef.2_Missense_Mutation_p.H543Y|NOSTRIN_uc002uei.2_Missense_Mutation_p.H369Y|NOSTRIN_uc010fpu.2_Missense_Mutation_p.H458Y|NOSTRIN_uc002ueh.2_Missense_Mutation_p.H408Y|NOSTRIN_uc002uej.2_Missense_Mutation_p.H369Y|NOSTRIN_uc002uek.2_Missense_Mutation_p.H170Y	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	486	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						GAAAAAAGGCCATTTTCCTGC	0.418													T	169721415	C	T	169721415	3	4	169	1	0	0	0	0	1	0	0	0	10546	594	21	4	1693	4	NOSTRIN	2	169721415	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	1618454	169721415	73477958	25	92706											
ZNF142	7701	broad.mit.edu	37	chr2	219509370	219509370	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagggctctgaatctggtggGggtgttgggccctgcatggc	19	8	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:219509370G>C	uc002vin.2	-	8	2305	c.1869C>G	c.(1867-1869)CCC>CCG	p.P623P	ZNF142_uc002vil.2_Silent_p.P584P|ZNF142_uc010fvt.2_Silent_p.P460P|ZNF142_uc002vim.2_Silent_p.P460P	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		AATCTGGTGGGGGTGTTGGGC	0.637													C	219509370	G	C	219509370	2	2	169	1	0	0	0	0	0	0	0	1	17728	1219	43	5		5	ZNF142	2	219509370	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	49787955	219509370	23690003	26	92707											
SP140	11262	broad.mit.edu	37	chr2	231103004	231103004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcagtgaactggagaagaCatttggctggtcacatctgg	12	8	3	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:231103004C>T	uc002vql.2	+	3	429	c.314C>T	c.(313-315)ACA>ATA	p.T105I	SP140_uc010zma.1_RNA|SP140_uc002vqj.2_Missense_Mutation_p.T105I|SP140_uc002vqk.2_Missense_Mutation_p.T105I|SP140_uc002vqn.2_Missense_Mutation_p.T105I|SP140_uc002vqm.2_Missense_Mutation_p.T105I|SP140_uc010fxl.2_Missense_Mutation_p.T105I	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	105	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		CTGGAGAAGACATTTGGCTGG	0.383													T	231103004	C	T	231103004	3	4	169	1	0	0	0	0	1	0	0	0	14962	478	17	4	324	4	SP140	2	231103004	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	11593634	231103004	12096369	27	92708											
MTERFD2	130916	broad.mit.edu	37	chr2	242035736	242035736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcttatcaggggtttGgtaccgtcccaggcgctcca	10	15	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:242035736G>T	uc002wan.1	-	3	1403	c.910C>A	c.(910-912)CAA>AAA	p.Q304K	MTERFD2_uc010zoj.1_Missense_Mutation_p.Q87K	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	275										ovary(1)	1		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)		TCAGGGGTTTGGTACCGTCCC	0.473													T	242035736	G	T	242035736	3	4	169	1	0	0	0	0	1	0	0	0	9920	1357	47	5	326	5	MTERFD2	2	242035736	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	10932732	242035736	1163637	28	92709											
PBRM1	55193	broad.mit.edu	37	chr3	52621493	52621493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggaatgtttcatttggtCggtaaaaccaacagccatac	10	8	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr3:52621493C>T	uc003des.2	-	19	3011	c.2999G>A	c.(2998-3000)CGA>CAA	p.R1000Q	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1000Q|PBRM1_uc003der.2_Missense_Mutation_p.R968Q|PBRM1_uc003det.2_Missense_Mutation_p.R1015Q|PBRM1_uc003deu.2_Missense_Mutation_p.R1015Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1000Q|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Missense_Mutation_p.R999Q|PBRM1_uc003dfb.1_Missense_Mutation_p.R912Q|PBRM1_uc003dfa.1_Missense_Mutation_p.R346Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1000	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				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)		TTCATTTGGTCGGTAAAACCA	0.368			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								T	52621493	C	T	52621493	3	4	169	1	0	0	0	0	1	0	0	0	11491	884	31	1	1949	1	PBRM1	3	52621493	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08		52621493	145400937	29	92710											
ERC2	26059	broad.mit.edu	37	chr3	56468565	56468565	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtcattctctctctgCagttctttcagctgggcctg	11	11	5	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr3:56468565C>A	uc003dhr.1	-	2	727	c.471G>T	c.(469-471)CTG>CTT	p.L157L		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	157	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTCTCTCTGCAGTTCTTTCA	0.488													A	56468565	C	A	56468565	2	1	169	1	0	0	0	0	0	0	0	1	5211	697	25	5		5	ERC2	3	56468565	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	3847072	56468565	141553865	30	92711											
TLR1	7096	broad.mit.edu	37	chr4	38798807	38798807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttataagaatcaggccagCcctctaacacttcacttgat	5	12	3	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:38798807C>T	uc003gtl.2	-	4	1920	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	549	Extracellular (Potential).|LRRCT.				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			lung(2)|skin(2)|prostate(1)	5						ATCAGGCCAGCCCTCTAACAC	0.408													T	38798807	C	T	38798807	3	4	169	1	0	0	0	0	1	0	0	0	15946	739	26	2	718	2	TLR1	4	38798807	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08		38798807	152355469	31	92712											
KIAA1109	84162	broad.mit.edu	37	chr4	123167363	123167363	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcagtctacaataggaacGactaaccaaggacaagcaca	9	10	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:123167363G>A	uc003ieh.2	+	31	5139	c.5094G>A	c.(5092-5094)ACG>ACA	p.T1698T	KIAA1109_uc003iek.2_Silent_p.T317T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1698					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CAATAGGAACGACTAACCAAG	0.328													A	123167363	G	A	123167363	2	1	169	1	0	0	0	0	0	0	0	1	8208	1045	37	1		1	KIAA1109	4	123167363	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	84368556	123167363	67986913	32	92713											
FAT4	79633	broad.mit.edu	37	chr4	126370353	126370353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactggtgaaattagaagcGttagacctttggacagggaa	12	6	0	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:126370353G>A	uc003ifj.3	+	9	8182	c.8182G>A	c.(8182-8184)GTT>ATT	p.V2728I	FAT4_uc011cgp.1_Missense_Mutation_p.V1026I|FAT4_uc003ifi.1_Missense_Mutation_p.V206I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2728	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATTAGAAGCGTTAGACCTTT	0.383													A	126370353	G	A	126370353	3	1	169	1	0	0	0	0	1	0	0	0	5692	1145	40	1	8216	1	FAT4	4	126370353	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	3202990	126370353	64783923	33	92714											
TRIM2	23321	broad.mit.edu	37	chr4	154216639	154216639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttccccttgcacccgCgggagaacgaccagctggat	12	14	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:154216639C>T	uc003ing.2	+	6	1081	c.880C>T	c.(880-882)CGG>TGG	p.R294W	TRIM2_uc003inh.2_Missense_Mutation_p.R321W	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	294						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CTTGCACCCGCGGGAGAACGA	0.592													T	154216639	C	T	154216639	3	4	169	1	0	0	0	0	1	0	0	0	16491	759	27	1	983	1	TRIM2	4	154216639	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	27846286	154216639	36937637	34	92715											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232503	5232503	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggggaggacagtgtgTgaaatatggtgatgaaggcc	18	5	0	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:5232503T>G	uc003jdl.2	+	12	1862	c.1724T>G	c.(1723-1725)GTG>GGG	p.V575G	ADAMTS16_uc003jdk.1_Missense_Mutation_p.V575G|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GGACAGTGTGTGAAATATGGT	0.507													G	5232503	T	G	5232503	3	3	169	1	0	0	0	0	1	0	0	0	261	1696	59	5	1770	5	ADAMTS16	5	5232503	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08		5232503	175682757	35	92716											
C6	729	broad.mit.edu	37	chr5	41160429	41160429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttccgttttgtcactGcacaggggatgtttcttacc	11	9	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:41160429G>T	uc003jmk.2	-	11	1709	c.1499C>A	c.(1498-1500)GCA>GAA	p.A500E	C6_uc003jml.1_Missense_Mutation_p.A500E	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	500	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTTGTCACTGCACAGGGGAT	0.512													T	41160429	G	T	41160429	3	4	169	1	0	0	0	0	1	0	0	0	2315	1319	46	5	1337	5	C6	5	41160429	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	35927926	41160429	139754831	36	92717											
SGTB	54557	broad.mit.edu	37	chr5	64967780	64967780	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagttaggcccccaacTccagcagcaggtcccccaat	9	16	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:64967780T>G	uc003jud.2	-	10	985	c.765A>C	c.(763-765)GGA>GGC	p.G255G		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	255							binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GGCCCCCAACTCCAGCAGCAG	0.388													G	64967780	T	G	64967780	2	3	169	1	0	0	0	0	0	0	0	1	14226	1538	54	5		5	SGTB	5	64967780	Silent	SNP	T	TCGA-CG-4438-01A-01D-1158-08	23807351	64967780	115947480	37	92718											
HEXB	3074	broad.mit.edu	37	chr5	73992920	73992920	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctgccagttaagattattCttaaaactctggtaagtaat	6	6	3	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:73992920C>T	uc003kdf.3	+	5	775	c.658C>T	c.(658-660)CTT>TTT	p.L220F	HEXB_uc003kdd.2_5'UTR|HEXB_uc003kde.2_Missense_Mutation_p.L220F|HEXB_uc010izh.2_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	220					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TAAGATTATTCTTAAAACTCT	0.323													T	73992920	C	T	73992920	3	4	169	1	0	0	0	0	1	0	0	0	7074	913	32	4	676	4	HEXB	5	73992920	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	9025140	73992920	106922340	38	92719											
OTP	23440	broad.mit.edu	37	chr5	76932669	76932669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgggactcggtcagccCgatacgcagtgccagctcct	11	16	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:76932669C>T	uc003kfg.2	-	2	572	c.424G>A	c.(424-426)GGG>AGG	p.G142R		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	orthopedia homeobox	142	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TCGGTCAGCCCGATACGCAGT	0.617													T	76932669	C	T	76932669	3	4	169	1	0	0	0	0	1	0	0	0	11310	652	23	1	561	1	OTP	5	76932669	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	2939749	76932669	103982591	39	92720											
SLC4A9	83697	broad.mit.edu	37	chr5	139745844	139745844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcatggtacccagagagTtcaaggtgagagccagggaa	14	8	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:139745844T>C	uc003lfm.2	+	14	2115	c.2080T>C	c.(2080-2082)TTC>CTC	p.F694L	SLC4A9_uc003lfj.2_Missense_Mutation_p.F670L|SLC4A9_uc011czg.1_Missense_Mutation_p.F607L|SLC4A9_uc003lfl.2_Missense_Mutation_p.F670L|SLC4A9_uc003lfk.2_Missense_Mutation_p.F656L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	694	Cytoplasmic (Potential).|Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAGAGAGTTCAAGGTGAG	0.547													C	139745844	T	C	139745844	3	2	169	1	0	0	0	0	1	0	0	0	14660	1725	60	3	2062	3	SLC4A9	5	139745844	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	62813175	139745844	41169416	40	92721											
BMP6	654	broad.mit.edu	37	chr6	7862613	7862613	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcccttcatggtggctttCttcaaagtgagtgaggtgca	12	9	3	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:7862613C>A	uc003mxu.3	+	4	1264	c.1086C>A	c.(1084-1086)TTC>TTA	p.F362L		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	362					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TGGTGGCTTTCTTCAAAGTGA	0.607													A	7862613	C	A	7862613	3	1	169	1	0	0	0	0	1	0	0	0	1464	912	32	5	1100	5	BMP6	6	7862613	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08		7862613	163252454	41	92722											
GABBR1	2550	broad.mit.edu	37	chr6	29598366	29598366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgggaggtccccacccGtcaggaaaaccttcccattt	10	14	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:29598366G>A	uc003nmt.3	-	4	680	c.344C>T	c.(343-345)ACG>ATG	p.T115M	GABBR1_uc003nmp.3_5'Flank|GABBR1_uc003nms.3_5'Flank|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Translation_Start_Site|GABBR1_uc011dls.1_Missense_Mutation_p.T115M	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	115	Extracellular (Potential).|Sushi 2.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T115M(1)		ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	GTCCCCACCCGTCAGGAAAAC	0.562													A	29598366	G	A	29598366	3	1	169	1	0	0	0	0	1	0	0	0	6155	1145	40	1	2766	1	GABBR1	6	29598366	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	21735753	29598366	141516701	42	92723											
HLA-A	3105	broad.mit.edu	37	chr6	29912352	29912352	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccttggagctgtgatcactgGagctgtggtcgctgccgtga	15	10	1	2	rs45461999		TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:29912352G>C	uc003nol.2	+	5	971	c.971G>C	c.(970-972)GGA>GCA	p.G324A	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Missense_Mutation_p.G203A|HLA-A_uc003nok.2_Missense_Mutation_p.G203A|HLA-A_uc003non.2_Missense_Mutation_p.G324A|HLA-A_uc003noo.2_Missense_Mutation_p.G324A|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Missense_Mutation_p.G203A|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Missense_Mutation_p.G203A|HLA-A_uc011dmd.1_Missense_Mutation_p.G203A	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	324	Helical; (Potential).				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			upper_aerodigestive_tract(1)|ovary(1)	2						GTGATCACTGGAGCTGTGGTC	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			C	29912352	G	C	29912352	3	2	169	1	0	0	0	0	1	0	0	0	7195	1174	41	5	989	5	HLA-A	6	29912352	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	313986	29912352	141202715	43	92724											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906580	32906580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtgagaggacattcGccaagctattcagcacccca	11	12	1	1	rs12176347		TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:32906580G>A	uc003ocl.1	-	2	451	c.218C>T	c.(217-219)GCG>GTG	p.A73V	HLA-DMB_uc003ocj.1_Missense_Mutation_p.A73V|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.A73V	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	73	Beta-1.|Lumenal (Potential).				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	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						GAGGACATTCGCCAAGCTATT	0.527													A	32906580	G	A	32906580	3	1	169	1	0	0	0	0	1	0	0	0	7199	1087	38	1	593	1	HLA-DMB	6	32906580	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	2994228	32906580	138208487	44	92725											
PRPH2	5961	broad.mit.edu	37	chr6	42672253	42672253	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtgctgagttgttggtgatCtgatactggatgcagggccg	16	6	1	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:42672253C>G	uc003osk.2	-	2	964	c.678G>C	c.(676-678)CAG>CAC	p.Q226H		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	226	Lumenal (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTTGGTGATCTGATACTGGA	0.582													G	42672253	C	G	42672253	3	3	169	1	0	0	0	0	1	0	0	0	12577	912	32	5	370	5	PRPH2	6	42672253	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	9765673	42672253	128442814	45	92726											
PKHD1	5314	broad.mit.edu	37	chr6	51619630	51619630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcacatggtggccctTgacttctttcacagtgagga	10	11	3	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:51619630T>C	uc003pah.1	-	56	9025	c.8749A>G	c.(8749-8751)AAG>GAG	p.K2917E	PKHD1_uc010jzn.1_Missense_Mutation_p.K900E|PKHD1_uc003pai.2_Missense_Mutation_p.K2917E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2917	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TGGTGGCCCTTGACTTCTTTC	0.473													C	51619630	T	C	51619630	3	2	169	1	0	0	0	0	1	0	0	0	11971	1821	63	3	3562	3	PKHD1	6	51619630	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	8947377	51619630	119495437	46	92727											
COL19A1	1310	broad.mit.edu	37	chr6	70669903	70669903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagggtgaaaatggtttaCatggtgctccaggattccct	11	7	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:70669903C>A	uc003pfc.1	+	10	1069	c.952C>A	c.(952-954)CAT>AAT	p.H318N	COL19A1_uc010kam.1_Missense_Mutation_p.H214N	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	318	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						AAATGGTTTACATGGTGCTCC	0.308													A	70669903	C	A	70669903	3	1	169	1	0	0	0	0	1	0	0	0	3676	478	17	5	986	5	COL19A1	6	70669903	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	19050273	70669903	100445164	47	92728											
MDN1	23195	broad.mit.edu	37	chr6	90425374	90425374	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtaagagatacaaatacctGaaattgggatttggtgttat	10	3	0	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:90425374G>A	uc003pnn.1	-	45	6974	c.6858C>T	c.(6856-6858)TTC>TTT	p.F2286F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2286					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		ACAAATACCTGAAATTGGGAT	0.403													A	90425374	G	A	90425374	2	1	169	1	0	0	0	0	0	0	0	1	9415	1281	45	4		4	MDN1	6	90425374	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	19755471	90425374	80689693	48	92729											
EPHA7	2045	broad.mit.edu	37	chr6	93969191	93969191	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggttttggtgcctggaAatttaactgtaatgatgtaa	11	3	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:93969191A>T	uc003poe.2	-	10	2046	c.1805T>A	c.(1804-1806)TTT>TAT	p.F602Y	EPHA7_uc003pof.2_Missense_Mutation_p.F597Y|EPHA7_uc011eac.1_Intron	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	602	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		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)		GGTGCCTGGAAATTTAACTGT	0.423													T	93969191	A	T	93969191	3	4	169	1	0	0	0	0	1	0	0	0	5172	14	1	5	1223	5	EPHA7	6	93969191	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	3543817	93969191	77145876	49	92730											
LAMA2	3908	broad.mit.edu	37	chr6	129663595	129663595	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcaatgtgcctgccctctGatttcttccagtaacaagta	7	12	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:129663595G>A	uc003qbn.2	+	30	4524	c.4419G>A	c.(4417-4419)CTG>CTA	p.L1473L	LAMA2_uc003qbo.2_Silent_p.L1473L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1473	Laminin EGF-like 16.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGCCCTCTGATTTCTTCCA	0.418													A	129663595	G	A	129663595	2	1	169	1	0	0	0	0	0	0	0	1	8606	1277	45	4		4	LAMA2	6	129663595	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	35694404	129663595	41451472	50	92731											
SYNE1	23345	broad.mit.edu	37	chr6	152765653	152765653	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaattaattcttcgagagAatttttgactatttctttgt	6	4	2	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:152765653A>T	uc010kiw.2	-	30	4332	c.3730T>A	c.(3730-3732)TCT>ACT	p.S1244T	SYNE1_uc003qot.3_Missense_Mutation_p.S1251T|SYNE1_uc003qou.3_Missense_Mutation_p.S1244T|SYNE1_uc010kjb.1_Missense_Mutation_p.S1227T|SYNE1_uc003qow.2_Missense_Mutation_p.S539T|SYNE1_uc003qox.1_Missense_Mutation_p.S760T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1244	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCGAGAGAATTTTTGACT	0.343										HNSCC(10;0.0054)			T	152765653	A	T	152765653	3	4	169	1	0	0	0	0	1	0	0	0	15442	246	9	5	23204	5	SYNE1	6	152765653	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	23102058	152765653	18349414	51	92732											
SYNE1	23345	broad.mit.edu	37	chr6	152841662	152841662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggattcgcttcatccggcGtccttgttcacaaggctgta	10	11	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:152841662G>A	uc010kiw.2	-	6	843	c.241C>T	c.(241-243)CGC>TGC	p.R81C	SYNE1_uc003qot.3_Missense_Mutation_p.R81C|SYNE1_uc003qou.3_Missense_Mutation_p.R81C|SYNE1_uc010kjb.1_Missense_Mutation_p.R81C|SYNE1_uc003qpa.1_Missense_Mutation_p.R81C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	81	Actin-binding.|Cytoplasmic (Potential).|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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCATCCGGCGTCCTTGTTCA	0.388										HNSCC(10;0.0054)			A	152841662	G	A	152841662	3	1	169	1	0	0	0	0	1	0	0	0	15442	1145	40	1	26814	1	SYNE1	6	152841662	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	76009	152841662	18273405	52	92733											
IPCEF1	26034	broad.mit.edu	37	chr6	154520945	154520945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgttttccagggccttgTggatgcctgcctctgagggt	13	10	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:154520945T>C	uc003qpx.2	-	10	920	c.764A>G	c.(763-765)CAC>CGC	p.H255R	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Missense_Mutation_p.H126R|IPCEF1_uc003qpw.2_Missense_Mutation_p.H256R|IPCEF1_uc010kjh.2_Missense_Mutation_p.H256R	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	255	Ser-rich.				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						CAGGGCCTTGTGGATGCCTGC	0.428													C	154520945	T	C	154520945	3	2	169	1	0	0	0	0	1	0	0	0	7791	1696	59	3	561	3	IPCEF1	6	154520945	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	1679283	154520945	16594122	53	92734											
TIAM2	26230	broad.mit.edu	37	chr6	155458677	155458677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaagcccctggtcactGtgcagaaggaaaggaagctt	11	10	3	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:155458677G>A	uc003qqb.2	+	7	2834	c.1561G>A	c.(1561-1563)GTG>ATG	p.V521M	TIAM2_uc003qqe.2_Missense_Mutation_p.V521M|TIAM2_uc010kjj.2_Missense_Mutation_p.V54M	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	521	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTGGTCACTGTGCAGAAGGA	0.562													A	155458677	G	A	155458677	3	1	169	1	0	0	0	0	1	0	0	0	15888	1377	48	4	1567	4	TIAM2	6	155458677	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	937732	155458677	15656390	54	92735											
LPA	4018	broad.mit.edu	37	chr6	160952872	160952872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagaagtgactccttgTaaaatgtatttgtccttctc	6	11	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:160952872T>G	uc003qtl.2	-	40	6132	c.6012A>C	c.(6010-6012)TTA>TTC	p.L2004F		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4512	Peptidase S1.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	TGACTCCTTGTAAAATGTATT	0.468													G	160952872	T	G	160952872	3	3	169	1	0	0	0	0	1	0	0	0	8903	1635	57	5	114	5	LPA	6	160952872	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	5494195	160952872	10162195	55	92736											
PLG	5340	broad.mit.edu	37	chr6	161173982	161173982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggacaaatacattttAcaaggagtcacttcttgggg	11	6	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:161173982A>C	uc003qtm.3	+	19	2385	c.2322A>C	c.(2320-2322)TTA>TTC	p.L774F		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	774	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			skin(3)|ovary(1)	4				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)	AATACATTTTACAAGGAGTCA	0.478													C	161173982	A	C	161173982	3	2	169	1	0	0	0	0	1	0	0	0	12086	388	14	5	2400	5	PLG	6	161173982	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	221110	161173982	9941085	56	92737											
SDK1	221935	broad.mit.edu	37	chr7	4304904	4304904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcggtggcgggctccgAggcgggcgcgcagctgcacc	20	14	0	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:4304904A>T	uc003smx.2	+	45	6669	c.6530A>T	c.(6529-6531)GAG>GTG	p.E2177V	SDK1_uc010kso.2_Missense_Mutation_p.E1433V|SDK1_uc003smy.2_Intron|SDK1_uc003smz.2_Missense_Mutation_p.E237V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2177	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GCGGGCTCCGAGGCGGGCGCG	0.721													T	4304904	A	T	4304904	3	4	169	1	0	0	0	0	1	0	0	0	13968	304	11	5	6708	5	SDK1	7	4304904	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08		4304904	154833759	57	92738											
HECW1	23072	broad.mit.edu	37	chr7	43547663	43547663	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggagggaaccttcaatcagGtgatggcctattcgcggaaa	13	8	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:43547663G>C	uc003tid.1	+	23	4404	c.3799G>C	c.(3799-3801)GTG>CTG	p.V1267L	HECW1_uc011kbi.1_Missense_Mutation_p.V1233L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1267					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTTCAATCAGGTGATGGCCTA	0.532													C	43547663	G	C	43547663	3	2	169	1	0	0	0	0	1	0	0	0	7042	1261	44	5	3881	5	HECW1	7	43547663	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	39242759	43547663	115591000	58	92739											
ADCY1	107	broad.mit.edu	37	chr7	45743282	45743282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttctacatcgagctggaCggcaacaacatgggggtgga	14	9	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:45743282C>T	uc003tne.3	+	16	2673	c.2655C>T	c.(2653-2655)GAC>GAT	p.D885D		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	885	Cytoplasmic (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGAGCTGGACGGCAACAACA	0.562													T	45743282	C	T	45743282	2	4	169	1	0	0	0	0	0	0	0	1	292	535	19	1		1	ADCY1	7	45743282	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	2195619	45743282	113395381	59	92740											
PKD1L1	168507	broad.mit.edu	37	chr7	47947794	47947794	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataataaggcccaagctccaCttcggttccatgaaactcgt	7	12	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:47947794C>G	uc003tny.1	-	9	1282	c.1282G>C	c.(1282-1284)GTG>CTG	p.V428L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	428	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CCAAGCTCCACTTCGGTTCCA	0.418													G	47947794	C	G	47947794	3	3	169	1	0	0	0	0	1	0	0	0	11964	565	20	5	7463	5	PKD1L1	7	47947794	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	2204512	47947794	111190869	60	92741											
CASD1	64921	broad.mit.edu	37	chr7	94181701	94181701	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcagttgtaaaaacaaagcaGagtgcaatgaactccatccg	9	9	0	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:94181701G>C	uc003uni.3	+	16	2223	c.1996G>C	c.(1996-1998)GAG>CAG	p.E666Q	CASD1_uc003unj.3_Missense_Mutation_p.E666Q	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	666						integral to membrane				ovary(2)	2	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)			AAACAAAGCAGAGTGCAATGA	0.328													C	94181701	G	C	94181701	3	2	169	1	0	0	0	0	1	0	0	0	2664	943	33	5	2058	5	CASD1	7	94181701	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	46233907	94181701	64956962	61	92742											
SLC26A3	1811	broad.mit.edu	37	chr7	107434890	107434890	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttttatgattttccTcaaaagcatttgtagaatac	5	7	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:107434890T>A	uc003ver.2	-	2	276	c.65A>T	c.(64-66)GAG>GTG	p.E22V	SLC26A3_uc003ves.2_Missense_Mutation_p.R4W	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	22					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			ovary(3)|skin(1)	4						ATGATTTTCCTCAAAAGCATT	0.363													A	107434890	T	A	107434890	3	1	169	1	0	0	0	0	1	0	0	0	14518	1551	54	5	2309	5	SLC26A3	7	107434890	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	13253189	107434890	51703773	62	92743											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558764	113558764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgtgtggaaaatgtcCgtccctaagtcaaaagtggt	10	8	3	0	rs111896635	byFrequency	TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:113558764C>T	uc010ljy.1	-	1	319	c.288G>A	c.(286-288)ACG>ACA	p.T96T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	96					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GGAAAATGTCCGTCCCTAAGT	0.383													T	113558764	C	T	113558764	2	4	169	1	0	0	0	0	0	0	0	1	12371	639	23	1		1	PPP1R3A	7	113558764	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	6123874	113558764	45579899	63	92744											
MET	4233	broad.mit.edu	37	chr7	116435940	116435940	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtctttctttttggaacaGatatgaagtaatgctaaaat	7	4	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:116435940G>C	uc003vij.2	+	21	4123	c.3936_splice	c.e21-1	p.L1312_splice	MET_uc010lkh.2_Splice_Site_p.L1330_splice|MET_uc011knj.1_Splice_Site_p.L882_splice	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	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)			TTTTGGAACAGATATGAAGTA	0.423			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				C	116435940	G	C	116435940	5	2	169	1	0	0	0	0	0	0	1	0	9485	956	33	5	4067	5	MET	7	116435940	Splice_Site	SNP	G	TCGA-CG-4438-01A-01D-1158-08	2877176	116435940	42702723	64	92745											
DGKI	9162	broad.mit.edu	37	chr7	137092659	137092659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaatctccccgttgccgGttttagctgcgtagtgaagg	11	11	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:137092659G>A	uc003vtt.2	-	31	2907	c.2906C>T	c.(2905-2907)ACC>ATC	p.T969I	DGKI_uc003vtu.2_Missense_Mutation_p.T638I	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	969	ANK 1.				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			ovary(1)|kidney(1)|skin(1)	3						CCCGTTGCCGGTTTTAGCTGC	0.433													A	137092659	G	A	137092659	3	1	169	1	0	0	0	0	1	0	0	0	4471	1261	44	4	307	4	DGKI	7	137092659	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	20656719	137092659	22046004	65	92746											
EFHA2	286097	broad.mit.edu	37	chr8	16973996	16973996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctactggactcaaatttTcaccacatttagtgaacact	5	10	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:16973996T>C	uc003wxd.2	+	13	1453	c.1411T>C	c.(1411-1413)TCA>CCA	p.S471P		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	471	EF-hand 3.					integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		ACTCAAATTTTCACCACATTT	0.284													C	16973996	T	C	16973996	3	2	169	1	0	0	0	0	1	0	0	0	4944	1783	62	3	1461	3	EFHA2	8	16973996	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08		16973996	129390026	66	92747											
PREX2	80243	broad.mit.edu	37	chr8	69050688	69050688	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagaagatacactggttgcActatttgatttggaaaaggt	10	4	0	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:69050688A>C	uc003xxv.1	+	33	4050	c.4023A>C	c.(4021-4023)GCA>GCC	p.A1341A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1341					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CACTGGTTGCACTATTTGATT	0.259													C	69050688	A	C	69050688	2	2	169	1	0	0	0	0	0	0	0	1	12477	146	6	5		5	PREX2	8	69050688	Silent	SNP	A	TCGA-CG-4438-01A-01D-1158-08	52076692	69050688	77313334	67	92748											
PSKH2	85481	broad.mit.edu	37	chr8	87060893	87060893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagccatggtgatcaccCagggatggtccagggcctgg	15	12	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:87060893C>G	uc011lfy.1	-	3	956	c.956G>C	c.(955-957)TGG>TCG	p.W319S		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	319	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			GGTGATCACCCAGGGATGGTC	0.552													G	87060893	C	G	87060893	3	3	169	1	0	0	0	0	1	0	0	0	12665	595	21	5	203	5	PSKH2	8	87060893	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	18010205	87060893	59303129	68	92749											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478930	110478930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcagtcagctttcaccGtttagcgttcaaccagcctt	7	13	4	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:110478930G>A	uc003yne.2	+	50	8641	c.8537G>A	c.(8536-8538)CGT>CAT	p.R2846H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2846	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTTTCACCGTTTAGCGTTC	0.438										HNSCC(38;0.096)			A	110478930	G	A	110478930	3	1	169	1	0	0	0	0	1	0	0	0	11972	1145	40	1	8735	1	PKHD1L1	8	110478930	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	23418037	110478930	35885092	69	92750											
TOPORS	10210	broad.mit.edu	37	chr9	32541411	32541411	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catatcacagtctctaccaaGacatactgacattaatgatg	5	10	2	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:32541411G>C	uc003zrb.2	-	3	3279	c.3112C>G	c.(3112-3114)CTT>GTT	p.L1038V	TOPORS_uc003zrc.2_Missense_Mutation_p.L971V	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	1038					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			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTCTACCAAGACATACTGAC	0.393													C	32541411	G	C	32541411	3	2	169	1	0	0	0	0	1	0	0	0	16367	942	33	5	29	5	TOPORS	9	32541411	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		32541411	108672020	70	92751											
ZNF462	58499	broad.mit.edu	37	chr9	109689843	109689843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcattatcagaagaagcaccGagacttcaaggccaatgcag	9	10	3	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:109689843G>C	uc004bcz.2	+	3	3939	c.3650G>C	c.(3649-3651)CGA>CCA	p.R1217P	ZNF462_uc010mto.2_Missense_Mutation_p.R1065P|ZNF462_uc004bda.2_Missense_Mutation_p.R1065P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1217					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAGAAGCACCGAGACTTCAAG	0.527													C	109689843	G	C	109689843	3	2	169	1	0	0	0	0	1	0	0	0	17923	1058	37	5	3656	5	ZNF462	9	109689843	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	77148432	109689843	31523588	71	92752											
PBX3	5090	broad.mit.edu	37	chr9	128725303	128725303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctaggtggataccctcCgtcatgttatcaatcagacg	8	11	4	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:128725303C>T	uc004bqb.2	+	8	1251	c.1135C>T	c.(1135-1137)CGT>TGT	p.R379C	PBX3_uc004bqc.2_Missense_Mutation_p.R198C|PBX3_uc004bqd.2_Missense_Mutation_p.P160L|PBX3_uc011lzw.1_Missense_Mutation_p.R304C|PBX3_uc011lzx.1_Missense_Mutation_p.P252L|PBX3_uc004bqe.2_Missense_Mutation_p.R287C	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	379					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						GGATACCCTCCGTCATGTTAT	0.398													T	128725303	C	T	128725303	3	4	169	1	0	0	0	0	1	0	0	0	11494	652	23	1	1165	1	PBX3	9	128725303	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	19035460	128725303	12488128	72	92753											
WDR34	89891	broad.mit.edu	37	chr9	131396198	131396198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagggctttcatcctggGtttgcttgatcaaaactgtg	11	8	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:131396198G>A	uc004bvq.1	-	9	1560	c.1436C>T	c.(1435-1437)ACC>ATC	p.T479I	WDR34_uc004bvs.1_Missense_Mutation_p.T470I|WDR34_uc004bvr.1_Missense_Mutation_p.T451I	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	479						cytoplasm				central_nervous_system(2)|skin(1)	3						TTCATCCTGGGTTTGCTTGAT	0.527													A	131396198	G	A	131396198	3	1	169	1	0	0	0	0	1	0	0	0	17285	1261	44	4	178	4	WDR34	9	131396198	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	2670895	131396198	9817233	73	92754											
NDST2	8509	broad.mit.edu	37	chr10	75563058	75563058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggggtctgggaggaggcTgaaatcacctgatagaaggt	17	5	2	4			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:75563058T>C	uc001jvk.2	-	12	3006	c.2202A>G	c.(2200-2202)TCA>TCG	p.S734S	NDST2_uc010qks.1_Silent_p.S360S|NDST2_uc010qkt.1_Silent_p.S611S|NDST2_uc001jvl.1_Silent_p.S141S|NDST2_uc009xro.2_Silent_p.S360S|NDST2_uc010qku.1_Silent_p.S609S	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	734	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					GGGAGGAGGCTGAAATCACCT	0.527													C	75563058	T	C	75563058	2	2	169	1	0	0	0	0	0	0	0	1	10256	1567	55	3		3	NDST2	10	75563058	Silent	SNP	T	TCGA-CG-4438-01A-01D-1158-08		75563058	59971689	74	92755											
FAM190B	54462	broad.mit.edu	37	chr10	86177563	86177563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgaatcatgtgaccttgagGatgatgatcttatgcttgat	10	5	2	6			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:86177563G>T	uc001kdh.1	+	4	1845	c.1651G>T	c.(1651-1653)GAT>TAT	p.D551Y	FAM190B_uc010qmd.1_Missense_Mutation_p.D551Y|FAM190B_uc001kdi.1_5'UTR	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	551										ovary(3)|skin(1)	4						TGACCTTGAGGATGATGATCT	0.348													T	86177563	G	T	86177563	3	4	169	1	0	0	0	0	1	0	0	0	5522	1174	41	5	1661	5	FAM190B	10	86177563	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	10614505	86177563	49357184	75	92756											
PDLIM1	9124	broad.mit.edu	37	chr10	97023620	97023620	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactcctgggctacttaCggtctgctgttcgcctccac	11	14	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:97023620C>T	uc001kkh.2	-	4	642	c.533_splice	c.e4+1	p.P178_splice	PDLIM1_uc001kki.2_Splice_Site_p.P178_splice|PDLIM1_uc009xuv.2_Splice_Site_p.P178_splice|PDLIM1_uc001kkj.1_Splice_Site_p.P178_splice	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1						response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGGCTACTTACGGTCTGCTGT	0.582													T	97023620	C	T	97023620	5	4	169	1	0	0	0	0	0	0	1	0	11679	550	19	1	471	1	PDLIM1	10	97023620	Splice_Site	SNP	C	TCGA-CG-4438-01A-01D-1158-08	10846057	97023620	38511127	76	92757											
TLL2	7093	broad.mit.edu	37	chr10	98172985	98172985	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttccgggcttgagctatgtCtccctgactgagccgcacgc	11	15	1	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:98172985C>T	uc001kml.1	-	8	1238	c.1012G>A	c.(1012-1014)GAC>AAC	p.D338N	TLL2_uc009xvf.1_Missense_Mutation_p.D286N	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	338	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGAGCTATGTCTCCCTGACTG	0.557													T	98172985	C	T	98172985	3	4	169	1	0	0	0	0	1	0	0	0	15943	913	32	4	2091	4	TLL2	10	98172985	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	1149365	98172985	37361762	77	92758											
TAF5	6877	broad.mit.edu	37	chr10	105145090	105145090	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctcttctctcaggaactatCtgctttcctcttcagaggac	6	13	6	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:105145090C>A	uc001kwv.2	+	8	1695	c.1672C>A	c.(1672-1674)CTG>ATG	p.L558M	TAF5_uc010qqq.1_Intron	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	558	WD 2.				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			ovary(2)	2		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)		CAGGAACTATCTGCTTTCCTC	0.383													A	105145090	C	A	105145090	3	1	169	1	0	0	0	0	1	0	0	0	15525	912	32	5	1702	5	TAF5	10	105145090	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	6972105	105145090	30389657	78	92759											
NRAP	4892	broad.mit.edu	37	chr10	115377264	115377264	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggaccatctccggagtgtCtttaatactggtaaacttca	8	10	3	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:115377264C>T	uc001laj.2	-	26	3087	c.2923G>A	c.(2923-2925)GAC>AAC	p.D975N	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.D940N|NRAP_uc001lal.3_Missense_Mutation_p.D975N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	975	Nebulin 25.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCGGAGTGTCTTTAATACTG	0.408													T	115377264	C	T	115377264	3	4	169	1	0	0	0	0	1	0	0	0	10638	913	32	4	2337	4	NRAP	10	115377264	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	10232174	115377264	20157483	79	92760											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119805578	119805578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagtgtatgtgtcattggTaccacttttgccttttggct	9	7	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:119805578T>C	uc001ldj.1	-	1	537	c.97A>G	c.(97-99)ACC>GCC	p.T33A	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.T33A|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	33	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		GTGTCATTGGTACCACTTTTG	0.493													C	119805578	T	C	119805578	3	2	169	1	0	0	0	0	1	0	0	0	12894	1638	57	3	1461	3	RAB11FIP2	10	119805578	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	4428314	119805578	15729169	80	92761											
GPR123	84435	broad.mit.edu	37	chr10	134942261	134942261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaccactgcgccaagcGtgaggacgtgtggcagtgct	13	13	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:134942261G>A	uc001llx.3	+	7	1365	c.929G>A	c.(928-930)CGT>CAT	p.R310H	GPR123_uc001llw.2_Missense_Mutation_p.R1029H	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		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)		TGCGCCAAGCGTGAGGACGTG	0.692													A	134942261	G	A	134942261	3	1	169	1	0	0	0	0	1	0	0	0	6637	1145	40	1	951	1	GPR123	10	134942261	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	15136683	134942261	592486	81	92762											
MUC5B	727897	broad.mit.edu	37	chr11	1276096	1276097	+	Missense_Mutation	DNP	CC	CC	AG													cagcctcttccacaacaacaCcgagggccagtgcggtgagt							TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:1276096_1276097CC>AG	uc009ycr.1	+	57	16787_16788	c.16661_16662CC>AG	c.(16660-16662)ACC>AAG	p.T5554K	MUC5B_uc001ltb.2_Missense_Mutation_p.T5220K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5217	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CACAACAACACCGAGGGCCAGT	0.658													AG	1276097	CC	AG	1276096	3	1	169	1	0	0	0	0	1	0	0	0	9979	507	18	5	15797	5	MUC5B	11	1276096	Missense_Mutation	DNP	CC	TCGA-CG-4438-01A-01D-1158-08		1276096	133730420	82	92763											
OR52L1	338751	broad.mit.edu	37	chr11	6007357	6007357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaattccagggacatagaaGaccaggatgacacaaatatg	9	7	0	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:6007357G>A	uc001mcd.2	-	1	859	c.804C>T	c.(802-804)GTC>GTT	p.V268V		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	268	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		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)		GGACATAGAAGACCAGGATGA	0.512													A	6007357	G	A	6007357	2	1	169	1	0	0	0	0	0	0	0	1	11125	929	33	4		4	OR52L1	11	6007357	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	4731261	6007357	128999159	83	92764											
SLC6A5	9152	broad.mit.edu	37	chr11	20657905	20657905	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccttaaccaggctgcctctCtctccgttctgggccatcat	8	16	4	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:20657905C>G	uc001mqd.2	+	11	1950	c.1677C>G	c.(1675-1677)CTC>CTG	p.L559L	SLC6A5_uc009yic.2_Silent_p.L324L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	559	Helical; Name=8; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	GGCTGCCTCTCTCTCCGTTCT	0.493													G	20657905	C	G	20657905	2	3	169	1	0	0	0	0	0	0	0	1	14687	900	32	5		5	SLC6A5	11	20657905	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	14650548	20657905	114348611	84	92765											
LTBP3	4054	broad.mit.edu	37	chr11	65315174	65315174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcacccacgcacgagcgCcccccggcgcccacgtgcag	11	22	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:65315174C>T	uc001oej.2	-	13	2234	c.1965G>A	c.(1963-1965)GGG>GGA	p.G655G	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Silent_p.G85G|LTBP3_uc010roi.1_Silent_p.G538G|LTBP3_uc001oei.2_Silent_p.G655G|LTBP3_uc010roj.1_Silent_p.G356G|LTBP3_uc010rok.1_Silent_p.G566G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	655	EGF-like 4; calcium-binding (Potential).|Cys-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CGCACGAGCGCCCCCCGGCGC	0.736													T	65315174	C	T	65315174	2	4	169	1	0	0	0	0	0	0	0	1	9075	726	26	2		2	LTBP3	11	65315174	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	44657269	65315174	69691342	85	92766											
PITPNM1	9600	broad.mit.edu	37	chr11	67266131	67266139	+	In_Frame_Del	DEL	GGCCCAAGG	GGCCCAAGG	-													caccagtcgcagcgccacgtGgcccaaggcctcagggaagt							TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:67266130_67266138TGGCCCAAGG>T	uc001olx.3	-	8	1602_1610	c.1413_1421CCTTGGGCCA>A	c.(1411-1422)gccttgggccac>gcAc	p.LGH472del	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_In_Frame_Del_p.LGH472del|PITPNM1_uc001olz.3_In_Frame_Del_p.LGH472del	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	472					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum 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						CAGCGCCACGTGGCCCAAGGCCTCAGGGA	0.66													-	67266139	GGCCCAAGG	-	67266131	7	5	169	1	0	1	0	1	0	0	0	0	11950	1348	47	0	2374	0	PITPNM1	11	67266131	In_Frame_Del	DEL	GGCCCAAGG	TCGA-CG-4438-01A-01D-1158-08	1950957	67266131	67740385	86	92767											
RAB30	27314	broad.mit.edu	37	chr11	82698634	82698634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagcccttacttacccactAacacagtgatgaccttgttg	6	12	0	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:82698634A>G	uc001ozu.2	-	5	617	c.356T>C	c.(355-357)TTA>TCA	p.L119S	RAB30_uc009yve.2_Missense_Mutation_p.L117S|RAB30_uc010rst.1_Missense_Mutation_p.L117S|RAB30_uc001ozv.2_Missense_Mutation_p.L117S|RAB30_uc009yvg.1_Missense_Mutation_p.L89S	NM_014488	NP_055303	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	119					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity				0						CTTACCCACTAACACAGTGAT	0.433													G	82698634	A	G	82698634	3	3	169	1	0	0	0	0	1	0	0	0	12919	372	13	3	263	3	RAB30	11	82698634	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	15432503	82698634	52307882	87	92768											
MMP20	9313	broad.mit.edu	37	chr11	102482556	102482556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagctcagagggacggcGctactccaggcctgcaaggc	13	13	1	1	rs143965716	byFrequency	TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:102482556G>A	uc001phc.2	-	3	466	c.453C>T	c.(451-453)AGC>AGT	p.S151S		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	151					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	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)		GAGGGACGGCGCTACTCCAGG	0.443													A	102482556	G	A	102482556	2	1	169	1	0	0	0	0	0	0	0	1	9659	1078	38	1		1	MMP20	11	102482556	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	19783922	102482556	32523960	88	92769											
ELMOD1	55531	broad.mit.edu	37	chr11	107535878	107535878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacccagacatggcGctgtgcccacattttgctgc	10	14	0	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:107535878G>A	uc010rvs.1	+	12	1364	c.960G>A	c.(958-960)GCG>GCA	p.A320A	ELMOD1_uc001pjm.2_Silent_p.A312A|ELMOD1_uc010rvt.1_Silent_p.A314A	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	320					phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478													A	107535878	G	A	107535878	2	1	169	1	0	0	0	0	0	0	0	1	5068	1074	38	1		1	ELMOD1	11	107535878	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	5053322	107535878	27470638	89	92770											
PIH1D2	120379	broad.mit.edu	37	chr11	111942457	111942457	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccactgacacaggttgAtaaaaagtattttttctttt	6	6	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:111942457A>C	uc001pmq.3	-	3	285	c.203T>G	c.(202-204)ATC>AGC	p.I68S	PIH1D2_uc009yyl.2_Missense_Mutation_p.I68S|PIH1D2_uc001pmp.3_Missense_Mutation_p.I68S|PIH1D2_uc010rws.1_Missense_Mutation_p.I68S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	68										ovary(1)	1		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)		ACACAGGTTGATAAAAAGTAT	0.333													C	111942457	A	C	111942457	3	2	169	1	0	0	0	0	1	0	0	0	11907	333	12	5	818	5	PIH1D2	11	111942457	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	4406579	111942457	23064059	90	92771											
MLL	4297	broad.mit.edu	37	chr11	118390341	118390341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattcttctaggtgttaacGgtttgaggatgctggggatt	14	4	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:118390341G>A	uc001pta.2	+	32	11169	c.11146G>A	c.(11146-11148)GGT>AGT	p.G3716S	MLL_uc001ptb.2_Missense_Mutation_p.G3719S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3716	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGGTGTTAACGGTTTGAGGAT	0.478			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118390341	G	A	118390341	3	1	169	1	0	0	0	0	1	0	0	0	9620	1116	39	1	11272	1	MLL	11	118390341	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	6447884	118390341	16616175	91	92772											
KCNA1	3736	broad.mit.edu	37	chr12	5021353	5021368	+	Frame_Shift_Del	DEL	GCACCGAGATAGCTGA	GCACCGAGATAGCTGA	-													tccttatttcatcacgctggGcaccgagatagctgagcagg							TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:5021352_5021367GGCACCGAGATAGCTGA>G	uc001qnh.3	+	1	1913_1928	c.808_823GGCACCGAGATAGCTGA>G	c.(808-825)ggcaccgagatagctgagfs	p.G270fs	KCNA1_uc021qts.1_Frame_Shift_Del_p.G270fs	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	270					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.T271T(2)		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)	CATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGG	0.532													-	5021368	GCACCGAGATAGCTGA	-	5021353	7	5	169	1	0	1	0	1	0	0	0	0	8001	1203	42	0	811	0	KCNA1	12	5021353	Frame_Shift_Del	DEL	GCACCGAGATAGCTGA	TCGA-CG-4438-01A-01D-1158-08		5021353	128830542	92	92773											
LRMP	4033	broad.mit.edu	37	chr12	25232696	25232696	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcccacgatagaggcccaAggtaaaatgttgacaggtgt	11	9	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:25232696A>G	uc001rgh.2	+	8	1277	c.243A>G	c.(241-243)CAA>CAG	p.Q81Q	LRMP_uc001rgg.1_RNA|LRMP_uc010sja.1_Silent_p.Q81Q|LRMP_uc010sjb.1_Silent_p.Q28Q|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Silent_p.Q81Q|LRMP_uc010sjd.1_Silent_p.Q28Q	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	137	Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TAGAGGCCCAAGGTAAAATGT	0.383													G	25232696	A	G	25232696	2	3	169	1	0	0	0	0	0	0	0	1	8950	86	3	3		3	LRMP	12	25232696	Silent	SNP	A	TCGA-CG-4438-01A-01D-1158-08	20211343	25232696	108619199	93	92774											
SLC48A1	55652	broad.mit.edu	37	chr12	48174023	48174023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctatgcccaccgctacCgggctgactttgctgacatc	9	16	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:48174023C>T	uc001rqd.2	+	3	521	c.400C>T	c.(400-402)CGG>TGG	p.R134W	SLC48A1_uc001rqc.2_RNA	NM_017842	NP_060312	Q6P1K1	HRG1_HUMAN	heme-responsive gene 1	134					transport	endosome membrane|integral to membrane|lysosomal membrane					0						CCACCGCTACCGGGCTGACTT	0.602													T	48174023	C	T	48174023	3	4	169	1	0	0	0	0	1	0	0	0	14649	643	23	1	410	1	SLC48A1	12	48174023	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	22941327	48174023	85677872	94	92775											
MLL2	8085	broad.mit.edu	37	chr12	49431894	49431894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgcagcagggcctccCgttcagccttctcattagcc	8	20	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:49431894C>T	uc001rta.3	-	34	9245	c.9245G>A	c.(9244-9246)CGG>CAG	p.R3082Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3082					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGGGCCTCCCGTTCAGCCTT	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49431894	C	T	49431894	3	4	169	1	0	0	0	0	1	0	0	0	9621	652	23	1	7452	1	MLL2	12	49431894	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	1257871	49431894	84420001	95	92776											
TUBA1C	84790	broad.mit.edu	37	chr12	49663249	49663249	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcttcctcccacagcGtgagtgcatctccatccacg	6	17	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:49663249G>C	uc001rtt.1	+	2	105	c.5G>C	c.(4-6)CGT>CCT	p.R2P	TUBA1C_uc001rts.2_5'UTR|TUBA1C_uc010smh.1_Missense_Mutation_p.R72P	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN	tubulin alpha 6	2					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0						CTCCCACAGCGTGAGTGCATC	0.502													C	49663249	G	C	49663249	3	2	169	1	0	0	0	0	1	0	0	0	16742	1159	40	5	11	5	TUBA1C	12	49663249	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	231355	49663249	84188646	96	92777											
AAAS	8086	broad.mit.edu	37	chr12	53708088	53708088	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctactaggacttaccgggtaGacaaggaggtagggtccagg	15	8	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:53708088G>C	uc001scr.3	-	7	846	c.683C>G	c.(682-684)TCT>TGT	p.S228C	AAAS_uc001scs.3_Missense_Mutation_p.S195C	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	228	WD 2.				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						TTACCGGGTAGACAAGGAGGT	0.552													C	53708088	G	C	53708088	3	2	169	1	0	0	0	0	1	0	0	0	8	942	33	5	997	5	AAAS	12	53708088	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	4044839	53708088	80143807	97	92778											
CKAP4	10970	broad.mit.edu	37	chr12	106633923	106633923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttctccagggacgtgaAgtcccgctcccgggcgtcct	13	15	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:106633923A>C	uc001tlk.2	-	2	772	c.688T>G	c.(688-690)TTC>GTC	p.F230V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	230						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						AGGGACGTGAAGTCCCGCTCC	0.567													C	106633923	A	C	106633923	3	2	169	1	0	0	0	0	1	0	0	0	3444	72	3	5	1124	5	CKAP4	12	106633923	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	52925835	106633923	27217972	98	92779											
WSCD2	9671	broad.mit.edu	37	chr12	108600093	108600094	+	Frame_Shift_Ins	INS	-	-	T													atcggctgctacctggatgaINScacccagagtcgggcccttc							TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:108600092_108600093G>GT	uc001tms.3	+	2	1153_1154	c.409_410G>GT	c.(409-411)gacfs	p.D137fs	WSCD2_uc001tmt.3_Frame_Shift_Ins_p.D137fs	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	137	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						CTACCTGGATGACACCCAGAGT	0.535													T	108600094	-	T	108600093	7	5	169	1	0	1	1	0	0	0	0	0	17404	275	10	0	416	0	WSCD2	12	108600093	Frame_Shift_Ins	INS	-	TCGA-CG-4438-01A-01D-1158-08	1966170	108600093	25251802	99	92780											
TBX5	6910	broad.mit.edu	37	chr12	114803972	114803972	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgatcacactcacctTtcctcttggtacaatggtaa	9	10	3	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:114803972T>G	uc001tvo.2	-	8	1475	c.980A>C	c.(979-981)AAA>ACA	p.K327T	TBX5_uc001tvp.2_Missense_Mutation_p.K327T|TBX5_uc001tvq.2_Missense_Mutation_p.K277T|TBX5_uc010syv.1_Missense_Mutation_p.K327T	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	327					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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACACTCACCTTTCCTCTTGGT	0.502													G	114803972	T	G	114803972	3	3	169	1	0	0	0	0	1	0	0	0	15658	1841	64	5	651	5	TBX5	12	114803972	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	6203879	114803972	19047923	100	92781											
LRRC43	254050	broad.mit.edu	37	chr12	122676081	122676081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgaaagatgaagaaggCgaaatgaatgagtccgcggg	15	4	0	6			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:122676081C>T	uc009zxm.2	+	6	1081	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G	LRRC43_uc001ubw.3_Silent_p.G167G|LRRC43_uc009zxn.2_Silent_p.G113G	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	352	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ATGAAGAAGGCGAAATGAATG	0.552											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	122676081	C	T	122676081	2	4	169	1	0	0	0	0	0	0	0	1	9001	755	27	1		1	LRRC43	12	122676081	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	7872109	122676081	11175814	101	92782											
C13orf23	80209	broad.mit.edu	37	chr13	39588424	39588424	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgaggtgtgtgaacggctGaggagacctgccctgggaac	17	9	0	4			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:39588424G>C	uc001uwy.2	-	11	1838	c.965C>G	c.(964-966)TCA>TGA	p.S322*	C13orf23_uc001uwz.2_Nonsense_Mutation_p.S300*	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	322	Pro-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		GTGAACGGCTGAGGAGACCTG	0.507													C	39588424	G	C	39588424	4	2	169	1	0	0	0	0	0	1	0	0	1721	1294	45	5	1881	5	C13orf23	13	39588424	Nonsense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		39588424	75581454	102	92783											
KLHL1	57626	broad.mit.edu	37	chr13	70681344	70681344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttactgtacctgtgtccaCatccttcacctgttgcctgg	7	14	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:70681344C>A	uc001vip.2	-	1	1282	c.488G>T	c.(487-489)TGT>TTT	p.C163F	KLHL1_uc010thm.1_Missense_Mutation_p.C163F|ATXN8OS_uc010aej.1_5'Flank	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	163					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGTGTCCACATCCTTCACC	0.512													A	70681344	C	A	70681344	3	1	169	1	0	0	0	0	1	0	0	0	8365	478	17	5	1802	5	KLHL1	13	70681344	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	31092920	70681344	44488534	103	92784											
UCHL3	7347	broad.mit.edu	37	chr13	76135004	76135004	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcttacttctctttcCtattacagaaaaggtaattg	6	8	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:76135004C>G	uc001vjq.2	+	3	200	c.170C>G	c.(169-171)CCT>CGT	p.P57R	UCHL3_uc001vjr.2_Missense_Mutation_p.P21R	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	57					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		CTTCTCTTTCCTATTACAGAA	0.284													G	76135004	C	G	76135004	3	3	169	1	0	0	0	0	1	0	0	0	16918	681	24	5	180	5	UCHL3	13	76135004	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	5453660	76135004	39034874	104	92785											
NALCN	259232	broad.mit.edu	37	chr13	101712255	101712255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcgggttcagaaacCggctcagctcttgctgctga	14	11	3	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:101712255C>T	uc001vox.1	-	42	5009	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1607	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTCAGAAACCGGCTCAGCTC	0.532													T	101712255	C	T	101712255	3	4	169	1	0	0	0	0	1	0	0	0	10148	652	23	1	408	1	NALCN	13	101712255	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	25577251	101712255	13457623	105	92786											
DDHD1	80821	broad.mit.edu	37	chr14	53513599	53513599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataggcagtatgcgacgtgaCagctgaccaatagcggctct	12	10	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:53513599C>A	uc001xai.2	-	13	2820	c.2590G>T	c.(2590-2592)GTC>TTC	p.V864F	DDHD1_uc001xaj.2_Missense_Mutation_p.V843F|DDHD1_uc001xah.2_Missense_Mutation_p.V836F|DDHD1_uc001xag.2_Missense_Mutation_p.V418F	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	864	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					TGCGACGTGACAGCTGACCAA	0.403													A	53513599	C	A	53513599	3	1	169	1	0	0	0	0	1	0	0	0	4326	478	17	5	116	5	DDHD1	14	53513599	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08		53513599	53835941	106	92787											
SPTB	6710	broad.mit.edu	37	chr14	65259825	65259825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctgtctccccgaacacCgtgtacaggtccagggcttc	11	15	2	0	rs141787926		TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:65259825C>T	uc001xht.2	-	13	2610	c.2556G>A	c.(2554-2556)ACG>ACA	p.T852T	SPTB_uc001xhr.2_Silent_p.T852T|SPTB_uc001xhs.2_Silent_p.T852T|SPTB_uc001xhu.2_Silent_p.T852T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	852	Spectrin 6.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		CCCCGAACACCGTGTACAGGT	0.642													T	65259825	C	T	65259825	2	4	169	1	0	0	0	0	0	0	0	1	15117	639	23	1		1	SPTB	14	65259825	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	11746226	65259825	42089715	107	92788											
AK7	122481	broad.mit.edu	37	chr14	96922757	96922757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagaattggccaactactAcaaactgcatcacatccaac	4	12	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:96922757A>G	uc001yfn.2	+	11	1216	c.1172A>G	c.(1171-1173)TAC>TGC	p.Y391C		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	391	Adenylate kinase.|Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCCAACTACTACAAACTGCAT	0.393													G	96922757	A	G	96922757	3	3	169	1	0	0	0	0	1	0	0	0	444	391	14	3	1214	3	AK7	14	96922757	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	31662932	96922757	10426783	108	92789											
BEGAIN	57596	broad.mit.edu	37	chr14	101012976	101012976	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacagccgcttgcgcagcTcgcccttctgctcctgcagc	11	17	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:101012976T>G	uc010txa.1	-	2	184	c.38A>C	c.(37-39)GAG>GCG	p.E13A	BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Missense_Mutation_p.E13A	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	13						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CTTGCGCAGCTCGCCCTTCTG	0.582													G	101012976	T	G	101012976	3	3	169	1	0	0	0	0	1	0	0	0	1397	1551	54	5	1763	5	BEGAIN	14	101012976	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	4090219	101012976	6336564	109	92790											
MARK3	4140	broad.mit.edu	37	chr14	103871565	103871565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcggcaaggggaattttgcAaaagtaaaattggcaagaca	11	5	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:103871565A>G	uc001ymz.3	+	2	870	c.204A>G	c.(202-204)GCA>GCG	p.A68A	MARK3_uc001ymx.3_Silent_p.A68A|MARK3_uc001ymw.3_Silent_p.A68A|MARK3_uc001yna.3_Silent_p.A68A|MARK3_uc001ymy.3_Silent_p.A68A|MARK3_uc010awp.2_Silent_p.A68A	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	68	ATP (By similarity).|Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			GGAATTTTGCAAAAGTAAAAT	0.408													G	103871565	A	G	103871565	2	3	169	1	0	0	0	0	0	0	0	1	9314	117	5	3		3	MARK3	14	103871565	Silent	SNP	A	TCGA-CG-4438-01A-01D-1158-08	2858589	103871565	3477975	110	92791											
C15orf55	256646	broad.mit.edu	37	chr15	34649144	34649144	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaccttgctcctttacaaGagagtcaggagtcttacaca	7	10	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr15:34649144G>A	uc001zif.2	+	7	3006	c.2851G>A	c.(2851-2853)GAG>AAG	p.E951K	C15orf55_uc010ucc.1_Missense_Mutation_p.E979K|C15orf55_uc010ucd.1_Missense_Mutation_p.E969K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	951						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TCCTTTACAAGAGAGTCAGGA	0.507			T	BRD3|BRD4	lethal midline carcinoma								A	34649144	G	A	34649144	3	1	169	1	0	0	0	0	1	0	0	0	1803	943	33	4	2877	4	C15orf55	15	34649144	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		34649144	67882248	111	92792											
WDR72	256764	broad.mit.edu	37	chr15	53908006	53908006	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccatggcaaaaggcaagaCagaaacaattttgctgtgtc	9	10	0	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr15:53908006C>A	uc002acj.2	-	15	2439	c.2397G>T	c.(2395-2397)CTG>CTT	p.L799L	WDR72_uc010bfi.1_Silent_p.L799L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	799										lung(1)|skin(1)	2				all cancers(107;0.0511)		AAAGGCAAGACAGAAACAATT	0.363													A	53908006	C	A	53908006	2	1	169	1	0	0	0	0	0	0	0	1	17319	465	17	5		5	WDR72	15	53908006	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	19258862	53908006	48623386	112	92793											
AKAP13	11214	broad.mit.edu	37	chr15	86266314	86266314	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccttccaagacaatgaagtgGagcaggaagatctagcacag	11	9	1	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr15:86266314G>C	uc002blv.1	+	26	6678	c.6508G>C	c.(6508-6510)GAG>CAG	p.E2170Q	AKAP13_uc002blu.1_Missense_Mutation_p.E2174Q|AKAP13_uc010bnf.1_Missense_Mutation_p.E791Q|AKAP13_uc002blw.1_Missense_Mutation_p.E635Q|AKAP13_uc002blx.1_Missense_Mutation_p.E415Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2170	Interaction with ESR1.|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	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAATGAAGTGGAGCAGGAAGA	0.433													C	86266314	G	C	86266314	3	2	169	1	0	0	0	0	1	0	0	0	449	1175	41	5	6676	5	AKAP13	15	86266314	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	32358308	86266314	16265078	113	92794											
MEFV	4210	broad.mit.edu	37	chr16	3294540	3294540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagttggatcttttgtttTatctcttgaggagtggtcca	12	5	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr16:3294540T>C	uc002cun.1	-	7	1699	c.1659A>G	c.(1657-1659)ATA>ATG	p.I553M		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	553					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	TCTTTTGTTTTATCTCTTGAG	0.507													C	3294540	T	C	3294540	3	2	169	1	0	0	0	0	1	0	0	0	9459	1744	61	3	702	3	MEFV	16	3294540	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08		3294540	87060213	114	92795											
FBXO31	79791	broad.mit.edu	37	chr16	87377307	87377307	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagaggcttgaatctcataGggtcatcgacgtgggggtca	14	8	3	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr16:87377307G>C	uc002fjw.2	-	4	598	c.554C>G	c.(553-555)CCT>CGT	p.P185R	FBXO31_uc010vot.1_Missense_Mutation_p.P13R|FBXO31_uc002fjv.2_Missense_Mutation_p.P77R	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	185					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAATCTCATAGGGTCATCGAC	0.587													C	87377307	G	C	87377307	3	2	169	1	0	0	0	0	1	0	0	0	5741	1000	35	5	1089	5	FBXO31	16	87377307	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	84082767	87377307	2977446	115	92796											
ANKRD11	29123	broad.mit.edu	37	chr16	89357087	89357087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgagctctttgatgcGccgggcgtccccgcggatgg	16	12	1	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr16:89357087G>A	uc002fmx.1	-	6	1008	c.547C>T	c.(547-549)CGC>TGC	p.R183C	ANKRD11_uc002fmy.1_Missense_Mutation_p.R183C|ANKRD11_uc002fnc.1_Missense_Mutation_p.R183C|ANKRD11_uc002fnd.2_Missense_Mutation_p.R149C|ANKRD11_uc002fne.2_Missense_Mutation_p.R149C|ANKRD11_uc002fnb.1_Missense_Mutation_p.R140C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	183	ANK 1.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TCTTTGATGCGCCGGGCGTCC	0.622													A	89357087	G	A	89357087	3	1	169	1	0	0	0	0	1	0	0	0	639	1087	38	1	7476	1	ANKRD11	16	89357087	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	1979780	89357087	997666	116	92797											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(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.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578212	G	A	7578212	4	1	169	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		7578212	73616998	117	92798											
PIK3R6	146850	broad.mit.edu	37	chr17	8707449	8707449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggatctggatattgttcGtcctgaaggtgttggtcact	12	7	3	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:8707449G>A	uc002glq.1	-	20	2258	c.2018C>T	c.(2017-2019)ACG>ATG	p.T673M	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	673					platelet activation	cytosol					0						GATATTGTTCGTCCTGAAGGT	0.572													A	8707449	G	A	8707449	3	1	169	1	0	0	0	0	1	0	0	0	11923	1145	40	1	254	1	PIK3R6	17	8707449	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	1129237	8707449	72487761	118	92799											
DNAH9	1770	broad.mit.edu	37	chr17	11711130	11711130	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggagcggcaagcagagcctGacaaggctggcagctttcat	15	10	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:11711130G>C	uc002gne.2	+	44	8570	c.8502G>C	c.(8500-8502)CTG>CTC	p.L2834L	DNAH9_uc010coo.2_Silent_p.L2128L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2834	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		AGCAGAGCCTGACAAGGCTGG	0.547													C	11711130	G	C	11711130	2	2	169	1	0	0	0	0	0	0	0	1	4608	1277	45	5		5	DNAH9	17	11711130	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	3003681	11711130	69484080	119	92800											
ATAD5	79915	broad.mit.edu	37	chr17	29182287	29182287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctgctgcgctggatgtGtacaatgcagtgagtaccag	13	8	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:29182287G>A	uc002hfs.1	+	7	2923	c.2577G>A	c.(2575-2577)GTG>GTA	p.V859V	ATAD5_uc002hft.1_Silent_p.V756V	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	859					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CGCTGGATGTGTACAATGCAG	0.388													A	29182287	G	A	29182287	2	1	169	1	0	0	0	0	0	0	0	1	1076	1364	48	4		4	ATAD5	17	29182287	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	17471157	29182287	52012923	120	92801											
GSDMA	284110	broad.mit.edu	37	chr17	38131252	38131252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgccatcctctatttcGttggagccctaacaggtaag	11	11	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:38131252G>A	uc002htl.1	+	10	1124	c.1006G>A	c.(1006-1008)GTT>ATT	p.V336I	GSDMA_uc002htm.1_Missense_Mutation_p.V336I	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	336					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CCTCTATTTCGTTGGAGCCCT	0.443													A	38131252	G	A	38131252	3	1	169	1	0	0	0	0	1	0	0	0	6816	1145	40	1	1040	1	GSDMA	17	38131252	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	8948965	38131252	43063958	121	92802											
CSF3	1440	broad.mit.edu	37	chr17	38173124	38173124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgcctctgctttccagcGccgggcaggaggggtcctgg	15	14	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:38173124G>A	uc002htp.2	+	5	576	c.536G>A	c.(535-537)CGC>CAC	p.R179H	CSF3_uc002hto.2_Missense_Mutation_p.R176H|CSF3_uc002htq.2_Missense_Mutation_p.R172H|CSF3_uc010wep.1_Missense_Mutation_p.R136H	NM_000759	NP_000750	P09919	CSF3_HUMAN	colony stimulating factor 3 isoform a precursor	179					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			ovary(1)	1	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCTTTCCAGCGCCGGGCAGGA	0.652													A	38173124	G	A	38173124	3	1	169	1	0	0	0	0	1	0	0	0	3936	1087	38	1	554	1	CSF3	17	38173124	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	41872	38173124	43022086	122	92803											
HEXIM1	10614	broad.mit.edu	37	chr17	43227413	43227413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgcagaacatgagcaagcagGagctcatcaaggagtacctg	12	9	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:43227413G>C	uc002iig.2	+	1	2730	c.856G>C	c.(856-858)GAG>CAG	p.E286Q		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	286	Mediates interaction with CCNT1.|Potential.				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			ovary(1)	1						GAGCAAGCAGGAGCTCATCAA	0.622													C	43227413	G	C	43227413	3	2	169	1	0	0	0	0	1	0	0	0	7076	1175	41	5	858	5	HEXIM1	17	43227413	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	5054289	43227413	37967797	123	92804											
KIF2B	84643	broad.mit.edu	37	chr17	51902309	51902309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatattgatttttgcattGcccggtctttgtccattttg	8	7	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:51902309G>A	uc002iua.2	+	1	2071	c.1915G>A	c.(1915-1917)GCC>ACC	p.A639T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	639					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			ovary(5)|skin(3)	8						TTTTTGCATTGCCCGGTCTTT	0.448													A	51902309	G	A	51902309	3	1	169	1	0	0	0	0	1	0	0	0	8298	1319	46	2	1917	2	KIF2B	17	51902309	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	8674896	51902309	29292901	124	92805											
ZFP161	7541	broad.mit.edu	37	chr18	5292000	5292000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaccgaagaactatcaacCtcaagcttcttgaaaagctt	6	10	3	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr18:5292000C>A	uc002kmq.2	-	4	368	c.207G>T	c.(205-207)GAG>GAT	p.E69D	ZFP161_uc002kmr.2_Missense_Mutation_p.E69D|ZFP161_uc010dkp.2_Missense_Mutation_p.E69D	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	69	BTB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACTATCAACCTCAAGCTTCT	0.378													A	5292000	C	A	5292000	3	1	169	1	0	0	0	0	1	0	0	0	17637	680	24	5	1146	5	ZFP161	18	5292000	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08		5292000	72785248	125	92806											
C18orf54	162681	broad.mit.edu	37	chr18	51888235	51888235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacattgagaagaatccacAttttcaaggaccctacactt	7	10	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr18:51888235A>G	uc002lfn.3	+	3	622	c.506A>G	c.(505-507)CAT>CGT	p.H169R	C18orf54_uc002lfo.3_Missense_Mutation_p.H169R	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	169						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AAGAATCCACATTTTCAAGGA	0.408													G	51888235	A	G	51888235	3	3	169	1	0	0	0	0	1	0	0	0	1904	217	8	3	512	3	C18orf54	18	51888235	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	46596235	51888235	26189013	126	92807											
KIAA1468	57614	broad.mit.edu	37	chr18	59925233	59925233	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaacaaatgttaatggAagataaggcagatttggtaa	11	3	0	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr18:59925233A>C	uc002lil.2	+	14	2164	c.1949A>C	c.(1948-1950)GAA>GCA	p.E650A	KIAA1468_uc002lik.1_Missense_Mutation_p.E650A|KIAA1468_uc010xel.1_Missense_Mutation_p.E650A|KIAA1468_uc002lim.2_Missense_Mutation_p.E294A	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	650	HEAT 2.						binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				ATGTTAATGGAAGATAAGGCA	0.333													C	59925233	A	C	59925233	3	2	169	1	0	0	0	0	1	0	0	0	8236	246	9	5	2003	5	KIAA1468	18	59925233	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	8036998	59925233	18152015	127	92808											
TMEM59L	25789	broad.mit.edu	37	chr19	18729278	18729278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccaccctggtgaccgcGcctggccagcacctcaagtt	10	17	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:18729278G>A	uc002njy.3	+	7	963	c.876G>A	c.(874-876)GCG>GCA	p.A292A		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	292						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TGGTGACCGCGCCTGGCCAGC	0.657													A	18729278	G	A	18729278	2	1	169	1	0	0	0	0	0	0	0	1	16183	1074	38	1		1	TMEM59L	19	18729278	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08		18729278	40399705	128	92809											
ZNF345	25850	broad.mit.edu	37	chr19	37369000	37369000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaatacacactggtgAgaaaccctatgaatgtaagg	10	8	0	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:37369000A>G	uc002oex.2	+	3	1646	c.1268A>G	c.(1267-1269)GAG>GGG	p.E423G	ZNF345_uc002oey.3_Missense_Mutation_p.E423G|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	423					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			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTGGTGAGAAACCCTAT	0.408													G	37369000	A	G	37369000	3	3	169	1	0	0	0	0	1	0	0	0	17856	304	11	3	1270	3	ZNF345	19	37369000	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	18639722	37369000	21759983	129	92810											
ZNF569	148266	broad.mit.edu	37	chr19	37904383	37904383	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacagtaagggctgagctttGagagaaggcttttccacact	11	8	0	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:37904383G>C	uc002ogi.2	-	6	1735	c.1177C>G	c.(1177-1179)CAA>GAA	p.Q393E	ZNF569_uc002ogh.2_Missense_Mutation_p.Q234E|ZNF569_uc002ogj.2_Missense_Mutation_p.Q417E	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	393	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTGAGCTTTGAGAGAAGGCT	0.388													C	37904383	G	C	37904383	3	2	169	1	0	0	0	0	1	0	0	0	17997	1299	45	5	887	5	ZNF569	19	37904383	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	535383	37904383	21224600	130	92811											
RYR1	6261	broad.mit.edu	37	chr19	39019004	39019004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcttttgtccaaacagcGccggcgggcagtcgtggcct	13	13	0	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:39019004G>T	uc002oit.2	+	74	11013	c.10883G>T	c.(10882-10884)CGC>CTC	p.R3628L	RYR1_uc002oiu.2_Missense_Mutation_p.R3623L|RYR1_uc002oiv.1_Missense_Mutation_p.R543L|RYR1_uc010xuf.1_Missense_Mutation_p.R548L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3628					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAAACAGCGCCGGCGGGCA	0.612													T	39019004	G	T	39019004	3	4	169	1	0	0	0	0	1	0	0	0	13768	1087	38	5	11177	5	RYR1	19	39019004	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	1114621	39019004	20109979	131	92812											
HIPK4	147746	broad.mit.edu	37	chr19	40889902	40889902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcagctcagccatgaCgcagcccagggaccacacgt	12	15	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:40889902C>T	uc002onp.2	-	2	895	c.610G>A	c.(610-612)GTC>ATC	p.V204I		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	204	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCAGCCATGACGCAGCCCAGG	0.642													T	40889902	C	T	40889902	3	4	169	1	0	0	0	0	1	0	0	0	7119	536	19	1	1252	1	HIPK4	19	40889902	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	1870898	40889902	18239081	132	92813											
RAB4B	53916	broad.mit.edu	37	chr19	41289882	41289882	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcccgcaccctggccaGccccaacatcgtggtcatcc	10	18	1	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:41289882G>T	uc002opd.1	+	5	442	c.332G>T	c.(331-333)AGC>ATC	p.S111I	RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.S137I	NM_016154	NP_057238	P61018	RAB4B_HUMAN	ras-related GTP-binding protein 4b	111					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACCCTGGCCAGCCCCAACATC	0.622													T	41289882	G	T	41289882	3	4	169	1	0	0	0	0	1	0	0	0	12947	971	34	5	350	5	RAB4B	19	41289882	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	399980	41289882	17839101	133	92814											
PRR19	284338	broad.mit.edu	37	chr19	42814223	42814223	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttgccacaggccttccccCggaggaacctgattcaggat	11	13	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:42814223C>G	uc002oti.2	+	2	865	c.487C>G	c.(487-489)CGG>GGG	p.R163G	PRR19_uc002oth.1_Missense_Mutation_p.R163G|PRR19_uc002otj.2_Missense_Mutation_p.R163G	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	163											0		Prostate(69;0.00682)				GGCCTTCCCCCGGAGGAACCT	0.637													G	42814223	C	G	42814223	3	3	169	1	0	0	0	0	1	0	0	0	12591	643	23	5	489	5	PRR19	19	42814223	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	1524341	42814223	16314760	134	92815											
PSG1	5669	broad.mit.edu	37	chr19	43382106	43382106	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccagttactcctctagtcCcatcatctccctttatgatg	5	14	3	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:43382106C>G	uc002ovb.2	-	2	527	c.389G>C	c.(388-390)GGG>GCG	p.G130A	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G130A|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.G130A|PSG1_uc010eio.1_Missense_Mutation_p.G130A|PSG1_uc002oux.1_Missense_Mutation_p.G59A|PSG1_uc002ouy.1_Missense_Mutation_p.G130A|PSG1_uc002ouz.1_Missense_Mutation_p.G130A|PSG1_uc002ova.1_Missense_Mutation_p.G130A|PSG1_uc002ovc.2_Missense_Mutation_p.G130A|PSG1_uc002ovd.1_Missense_Mutation_p.G130A	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	130	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				TCCTCTAGTCCCATCATCTCC	0.507													G	43382106	C	G	43382106	3	3	169	1	0	0	0	0	1	0	0	0	12653	623	22	5	943	5	PSG1	19	43382106	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	567883	43382106	15746877	135	92816											
ZNF473	25888	broad.mit.edu	37	chr19	50548396	50548396	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcactggatcactcatacTagggagaaacccactgtcca	8	13	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:50548396T>G	uc002prn.2	+	5	933	c.696T>G	c.(694-696)ACT>ACG	p.T232T	ZNF473_uc002prm.2_Silent_p.T232T|ZNF473_uc010ybo.1_Silent_p.T220T	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	232					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCACTCATACTAGGGAGAAAC	0.463													G	50548396	T	G	50548396	2	3	169	1	0	0	0	0	0	0	0	1	17928	1509	53	5		5	ZNF473	19	50548396	Silent	SNP	T	TCGA-CG-4438-01A-01D-1158-08	7166290	50548396	8580587	136	92817											
ZFP28	140612	broad.mit.edu	37	chr19	57065109	57065109	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagcaagattcatatgctGaaggggtaacagacagaacc	10	8	1	4			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:57065109G>A	uc002qnj.2	+	8	1026	c.955G>A	c.(955-957)GAA>AAA	p.E319K	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TTCATATGCTGAAGGGGTAAC	0.403													A	57065109	G	A	57065109	3	1	169	1	0	0	0	0	1	0	0	0	17639	1291	45	4	985	4	ZFP28	19	57065109	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	6516713	57065109	2063874	137	92818											
PEG3	5178	broad.mit.edu	37	chr19	57325084	57325084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctggcgagggacaggcGgtcattgaagagctgcccac	16	10	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:57325084G>A	uc002qnu.2	-	7	5077	c.4726C>T	c.(4726-4728)CGC>TGC	p.R1576C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R1547C|PEG3_uc002qnv.2_Missense_Mutation_p.R1576C|PEG3_uc002qnw.2_Missense_Mutation_p.R1452C|PEG3_uc002qnx.2_Missense_Mutation_p.R1450C|PEG3_uc010etr.2_Missense_Mutation_p.R1576C|PEG3AS_uc010ets.1_RNA	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1576	C2H2-type 12.		R -> L.		apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGACAGGCGGTCATTGAAG	0.532													A	57325084	G	A	57325084	3	1	169	1	0	0	0	0	1	0	0	0	11720	1116	39	1	44	1	PEG3	19	57325084	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	259975	57325084	1803899	138	92819											
ZNF543	125919	broad.mit.edu	37	chr19	57840315	57840315	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgcagctcacacctcacGaggcaccaacagattcacac	6	17	3	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:57840315G>A	uc002qoi.1	+	4	1830	c.1485G>A	c.(1483-1485)ACG>ACA	p.T495T		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	495	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		CACACCTCACGAGGCACCAAC	0.522													A	57840315	G	A	57840315	2	1	169	1	0	0	0	0	0	0	0	1	17973	1045	37	1		1	ZNF543	19	57840315	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08	515231	57840315	1288668	139	92820											
ZNF552	79818	broad.mit.edu	37	chr19	58319637	58319637	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtagagctgtgggtaaatGacttcccacaatcactgcat	9	9	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:58319637G>C	uc002qqg.2	-	3	1165	c.995C>G	c.(994-996)TCA>TGA	p.S332*	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Nonsense_Mutation_p.S328*	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	332	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0259)		GTGGGTAAATGACTTCCCACA	0.448													C	58319637	G	C	58319637	4	2	169	1	0	0	0	0	0	1	0	0	17981	1294	45	5	232	5	ZNF552	19	58319637	Nonsense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	479322	58319637	809346	140	92821											
SIRPB1	10326	broad.mit.edu	37	chr20	1546812	1546812	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttacagtcaggccttctGtttccagcagatgtagatgg	10	9	2	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:1546812G>A	uc010gai.2	-	5	1285	c.1186C>T	c.(1186-1188)CAG>TAG	p.Q396*	SIRPB1_uc002wfk.3_Nonsense_Mutation_p.Q179*	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	396	Cytoplasmic (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						CAGGCCTTCTGTTTCCAGCAG	0.587													A	1546812	G	A	1546812	4	1	169	1	0	0	0	0	0	1	0	0	14333	1386	48	4	14	4	SIRPB1	20	1546812	Nonsense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		1546812	61478708	141	92822											
PDYN	5173	broad.mit.edu	37	chr20	1963678	1963678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacaggcagtccgctgtgGtggaggggaacatgaggagg	20	7	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:1963678G>A	uc010gaj.2	-	2	295	c.53C>T	c.(52-54)ACC>ATC	p.T18I	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.T18I|PDYN_uc010zpt.1_Intron	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	18					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						GTCCGCTGTGGTGGAGGGGAA	0.562													A	1963678	G	A	1963678	3	1	169	1	0	0	0	0	1	0	0	0	11699	1261	44	4	719	4	PDYN	20	1963678	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	416866	1963678	61061842	142	92823											
IDH3B	3420	broad.mit.edu	37	chr20	2639420	2639420	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctccctttagtctgcaggtGaccgatgacagacttgatga	11	10	1	5			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:2639420G>C	uc002wgp.2	-	12	1144	c.1135C>G	c.(1135-1137)CAC>GAC	p.H379D	IDH3B_uc002wgq.2_Intron|IDH3B_uc002wgr.2_Missense_Mutation_p.H227D	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	379					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	GTCTGCAGGTGACCGATGACA	0.562													C	2639420	G	C	2639420	3	2	169	1	0	0	0	0	1	0	0	0	7497	1290	45	5	111	5	IDH3B	20	2639420	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	675742	2639420	60386100	143	92824											
PLCB1	23236	broad.mit.edu	37	chr20	8745967	8745967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactacttgagaaggagagcCgctttggaaaagtccgccaa	12	9	0	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:8745967C>T	uc002wnb.2	+	26	2895	c.2892C>T	c.(2890-2892)GCC>GCT	p.A964A	PLCB1_uc010zrb.1_Silent_p.A863A|PLCB1_uc002wna.2_Silent_p.A964A|PLCB1_uc002wnc.1_Silent_p.A863A|PLCB1_uc002wnd.1_Silent_p.A541A	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	964					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GAAGGAGAGCCGCTTTGGAAA	0.358													T	8745967	C	T	8745967	2	4	169	1	0	0	0	0	0	0	0	1	12027	639	23	1		1	PLCB1	20	8745967	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	6106547	8745967	54279553	144	92825											
RBM39	9584	broad.mit.edu	37	chr20	34297154	34297154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcaactcaccttcagtcTgctgggaaagtcttgtttgc	8	11	5	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:34297154T>C	uc002xeb.2	-	13	1561	c.1217A>G	c.(1216-1218)CAG>CGG	p.Q406R	RBM39_uc002xdz.2_Missense_Mutation_p.Q382R|RBM39_uc002xea.2_Missense_Mutation_p.Q249R|RBM39_uc010gfn.2_Missense_Mutation_p.Q249R|RBM39_uc010zvm.1_Missense_Mutation_p.Q378R|RBM39_uc002xeg.2_Missense_Mutation_p.Q384R|RBM39_uc002xec.2_Missense_Mutation_p.Q400R|RBM39_uc002xed.2_Missense_Mutation_p.Q124R|RBM39_uc002xee.2_Missense_Mutation_p.Q249R|RBM39_uc002xef.2_Missense_Mutation_p.Q243R|RBM39_uc010zvn.1_Missense_Mutation_p.Q249R	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	406	Interaction with ESR1 and ESR2 (By similarity).|Interaction with NCOA6 (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			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACCTTCAGTCTGCTGGGAAAG	0.313													C	34297154	T	C	34297154	3	2	169	1	0	0	0	0	1	0	0	0	13133	1580	55	3	395	3	RBM39	20	34297154	Missense_Mutation	SNP	T	TCGA-CG-4438-01A-01D-1158-08	25551187	34297154	28728366	145	92826											
TOX2	84969	broad.mit.edu	37	chr20	42680082	42680082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcgcagatgggcatccGgagcagcatcgcccacagct	11	15	1	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:42680082G>A	uc002xlf.3	+	4	592	c.575G>A	c.(574-576)CGG>CAG	p.R192Q	TOX2_uc010ggo.2_Missense_Mutation_p.R183Q|TOX2_uc002xle.3_Missense_Mutation_p.R141Q|TOX2_uc010ggp.2_Missense_Mutation_p.R141Q|TOX2_uc002xlg.2_Missense_Mutation_p.R141Q|TOX2_uc010zwk.1_Missense_Mutation_p.R61Q	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGGCATCCGGAGCAGCATC	0.677													A	42680082	G	A	42680082	3	1	169	1	0	0	0	0	1	0	0	0	16375	1116	39	1	692	1	TOX2	20	42680082	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	8382928	42680082	20345438	146	92827											
ZFP64	55734	broad.mit.edu	37	chr20	50769645	50769645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcggtgcagtggatacgCtcgtggatgcgcagggcggc	19	10	0	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:50769645C>T	uc002xwl.2	-	6	1435	c.1086G>A	c.(1084-1086)GAG>GAA	p.E362E	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.E360E|ZFP64_uc002xwn.2_Silent_p.E308E	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	362	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGTGGATACGCTCGTGGATGC	0.602													T	50769645	C	T	50769645	2	4	169	1	0	0	0	0	0	0	0	1	17649	796	28	2		2	ZFP64	20	50769645	Silent	SNP	C	TCGA-CG-4438-01A-01D-1158-08	8089563	50769645	12255875	147	92828											
OGFR	11054	broad.mit.edu	37	chr20	61440999	61440999	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgacctccttgaggacaatCactcctacatccagtggtga	8	12	1	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:61440999C>T	uc002ydj.2	+	4	417	c.382C>T	c.(382-384)CAC>TAC	p.H128Y	OGFR_uc002ydk.2_Missense_Mutation_p.H111Y|OGFR_uc002ydl.2_Missense_Mutation_p.H76Y	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	128					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					TGAGGACAATCACTCCTACAT	0.617													T	61440999	C	T	61440999	3	4	169	1	0	0	0	0	1	0	0	0	10843	826	29	4	396	4	OGFR	20	61440999	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	10671354	61440999	1584521	148	92829											
KCNQ2	3785	broad.mit.edu	37	chr20	62044861	62044861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggccggctgagtactgctCgatgacgtccatcacgtcgt	13	12	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:62044861C>T	uc002yey.1	-	15	1882	c.1705G>A	c.(1705-1707)GAG>AAG	p.E569K	KCNQ2_uc002yez.1_Missense_Mutation_p.E538K|KCNQ2_uc002yfa.1_Missense_Mutation_p.E551K|KCNQ2_uc002yfb.1_Missense_Mutation_p.E541K	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	569	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GAGTACTGCTCGATGACGTCC	0.632													T	62044861	C	T	62044861	3	4	169	1	0	0	0	0	1	0	0	0	8083	893	31	1	925	1	KCNQ2	20	62044861	Missense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	603862	62044861	980659	149	92830											
USP16	10600	broad.mit.edu	37	chr21	30415748	30415748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatctatattttaagagtgGtaagaaaagtgtaaatgata	8	1	1	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr21:30415748G>C	uc002ymy.2	+	13	1386	c.1184G>C	c.(1183-1185)GGT>GCT	p.G395A	USP16_uc002ymx.2_Missense_Mutation_p.G394A|USP16_uc002ymw.2_Missense_Mutation_p.G395A|USP16_uc011acm.1_Missense_Mutation_p.G380A|USP16_uc011acn.1_Missense_Mutation_p.G61A|USP16_uc011aco.1_Missense_Mutation_p.G85A	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	395					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			ovary(2)|breast(1)|pancreas(1)	4						TTTAAGAGTGGTAAGAAAAGT	0.279													C	30415748	G	C	30415748	3	2	169	1	0	0	0	0	1	0	0	0	17044	1261	44	5	1230	5	USP16	21	30415748	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		30415748	17714147	150	92831											
DIP2A	23181	broad.mit.edu	37	chr21	47976888	47976888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcgccttatgccgctccAtaaagctgcagtgtgagctg	11	12	0	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr21:47976888A>G	uc002zjo.2	+	30	3718	c.3535A>G	c.(3535-3537)ATA>GTA	p.I1179V	DIP2A_uc011afz.1_Missense_Mutation_p.I1175V|DIP2A_uc002zjr.2_Missense_Mutation_p.I146V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1179					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		ATGCCGCTCCATAAAGCTGCA	0.517													G	47976888	A	G	47976888	3	3	169	1	0	0	0	0	1	0	0	0	4527	217	8	3	3766	3	DIP2A	21	47976888	Missense_Mutation	SNP	A	TCGA-CG-4438-01A-01D-1158-08	17561140	47976888	153007	151	92832											
APOL3	80833	broad.mit.edu	37	chr22	36537683	36537683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcaatcggtcaatgctGgttgcagtcagcctgctggc	11	12	3	0			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr22:36537683G>A	uc003aot.2	-	3	812	c.774C>T	c.(772-774)ACC>ACT	p.T258T	APOL3_uc003aoq.2_Silent_p.T187T|APOL3_uc003aor.2_Silent_p.T187T|APOL3_uc003aos.2_Silent_p.T187T|APOL3_uc003aou.2_Silent_p.T58T|APOL3_uc003aov.2_Silent_p.T58T	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	258					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						GGTCAATGCTGGTTGCAGTCA	0.483													A	36537683	G	A	36537683	2	1	169	1	0	0	0	0	0	0	0	1	807	1335	47	4		4	APOL3	22	36537683	Silent	SNP	G	TCGA-CG-4438-01A-01D-1158-08		36537683	14766883	152	92833											
PRDX4	10549	broad.mit.edu	37	chrX	23697385	23697385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actatggtgtatacctagagGactcaggccacactcttagg	10	10	2	1			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:23697385G>A	uc004dam.2	+	4	623	c.580G>A	c.(580-582)GAC>AAC	p.D194N		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	194	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						ATACCTAGAGGACTCAGGCCA	0.393													A	23697385	G	A	23697385	3	1	169	1	0	0	0	0	1	0	0	0	12467	1174	41	4	594	4	PRDX4	23	23697385	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08		23697385	131573175	153	92834											
MED12	9968	broad.mit.edu	37	chrX	70344686	70344686	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgaggacatggagaagcctGatttctcagtaagttcaatc	10	7	2	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:70344686G>C	uc004dyy.2	+	14	2246	c.2047G>C	c.(2047-2049)GAT>CAT	p.D683H	MED12_uc011mpq.1_Missense_Mutation_p.D683H|MED12_uc004dyz.2_Missense_Mutation_p.D683H|MED12_uc004dza.2_Missense_Mutation_p.D530H	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	683					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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GGAGAAGCCTGATTTCTCAGT	0.468													C	70344686	G	C	70344686	3	2	169	1	0	0	0	0	1	0	0	0	9428	1290	45	5	2101	5	MED12	23	70344686	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	46647301	70344686	84925874	154	92835											
ATP7A	538	broad.mit.edu	37	chrX	77243797	77243797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctaaactacagactccaaaGaccctacaggaagctattga	6	12	0	3			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:77243797G>C	uc004ecx.3	+	3	340	c.180G>C	c.(178-180)AAG>AAC	p.K60N	ATP7A_uc004ecw.2_Missense_Mutation_p.K60N	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	60	HMA 1.|Cytoplasmic (Potential).				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|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				0						AGACTCCAAAGACCCTACAGG	0.378													C	77243797	G	C	77243797	3	2	169	1	0	0	0	0	1	0	0	0	1190	933	33	5	186	5	ATP7A	23	77243797	Missense_Mutation	SNP	G	TCGA-CG-4438-01A-01D-1158-08	6899111	77243797	78026763	155	92836											
DACH2	117154	broad.mit.edu	37	chrX	86069699	86069699	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacatttcagctactatgCaaaagcgcctgaagaaggag	9	8	1	2			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:86069699C>T	uc004eew.2	+	10	1716	c.1546C>T	c.(1546-1548)CAA>TAA	p.Q516*	DACH2_uc004eex.2_Nonsense_Mutation_p.Q503*|DACH2_uc010nmq.2_Nonsense_Mutation_p.Q382*|DACH2_uc011mra.1_Nonsense_Mutation_p.Q349*|DACH2_uc010nmr.2_Nonsense_Mutation_p.Q297*|DACH2_uc004eey.2_Nonsense_Mutation_p.Q209*|DACH2_uc004eez.2_Nonsense_Mutation_p.Q199*	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	516	Potential.|DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						AGCTACTATGCAAAAGCGCCT	0.398													T	86069699	C	T	86069699	4	4	169	1	0	0	0	0	0	1	0	0	4221	711	25	2	1584	2	DACH2	23	86069699	Nonsense_Mutation	SNP	C	TCGA-CG-4438-01A-01D-1158-08	8825902	86069699	69200861	156	92837											
VPS13D	55187	broad.mit.edu	37	chr1	12395817	12395817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattactgtaaagatgacaaGgacatagagtcagctaaatc	9	6	1	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:12395817G>T	uc001atv.2	+	39	8625	c.8484G>T	c.(8482-8484)AAG>AAT	p.K2828N	VPS13D_uc001atw.2_Missense_Mutation_p.K2828N|VPS13D_uc001atx.2_Missense_Mutation_p.K2016N|VPS13D_uc001aty.1_Missense_Mutation_p.K566N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2828					protein localization					ovary(4)|pancreas(1)	5	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)		AAGATGACAAGGACATAGAGT	0.393													T	12395817	G	T	12395817	3	4	170	1	0	0	0	0	1	0	0	0	17189	991	35	5	8634	5	VPS13D	1	12395817	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08		12395817	236854804	1	92838											
ALDH4A1	8659	broad.mit.edu	37	chr1	19208375	19208375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggcttccataggaccaCgttgccctgcccgggaggtg	14	13	0	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:19208375C>T	uc001bbb.2	-	8	961	c.685G>A	c.(685-687)GTG>ATG	p.V229M	ALDH4A1_uc010ocu.1_Missense_Mutation_p.V169M|ALDH4A1_uc001bbc.2_Missense_Mutation_p.V229M	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	229					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CATAGGACCACGTTGCCCTGC	0.617													T	19208375	C	T	19208375	3	4	170	1	0	0	0	0	1	0	0	0	501	536	19	1	1038	1	ALDH4A1	1	19208375	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	6812558	19208375	230042246	2	92839											
EPHB2	2048	broad.mit.edu	37	chr1	23237000	23237000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcccaagttcggccaaatTgtcaacacgctagacaagat	9	12	1	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:23237000T>G	uc009vqj.1	+	14	2773	c.2628T>G	c.(2626-2628)ATT>ATG	p.I876M	EPHB2_uc001bge.2_Missense_Mutation_p.I877M|EPHB2_uc001bgf.2_Missense_Mutation_p.I876M|EPHB2_uc010odu.1_Missense_Mutation_p.I818M	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	876	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		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)		TCGGCCAAATTGTCAACACGC	0.632									Hereditary_Prostate_Cancer				G	23237000	T	G	23237000	3	3	170	1	0	0	0	0	1	0	0	0	5175	1800	63	5	2685	5	EPHB2	1	23237000	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	4028625	23237000	226013621	3	92840											
THRAP3	9967	broad.mit.edu	37	chr1	36762332	36762333	+	Frame_Shift_Ins	INS	-	-	A													tcaagggaaaggtcagctgaINSaaaaacagagaaaactcata							TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:36762331_36762332G>GA	uc001cae.4	+	8	2487_2488	c.2263_2264G>GA	c.(2263-2265)gaafs	p.E755fs	THRAP3_uc001caf.4_Frame_Shift_Ins_p.E755fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	755					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor 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)				AAGGTCAGCTGAAAAAACAGAG	0.431			T	USP6	aneurysmal bone cysts								A	36762333	-	A	36762332	7	5	170	1	0	1	1	0	0	0	0	0	15871	246	9	0	2290	0	THRAP3	1	36762332	Frame_Shift_Ins	INS	-	TCGA-CG-4440-01A-01D-1158-08	13525332	36762332	212488289	4	92841											
FAM159A	348378	broad.mit.edu	37	chr1	53108542	53108542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcttcccagcattggcGctctcataggcctgtccgta	8	15	2	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:53108542G>A	uc001cuf.2	+	2	290	c.190G>A	c.(190-192)GCT>ACT	p.A64T	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	64	Helical; (Potential).					integral to membrane					0						CAGCATTGGCGCTCTCATAGG	0.512													A	53108542	G	A	53108542	3	1	170	1	0	0	0	0	1	0	0	0	5468	1087	38	1	196	1	FAM159A	1	53108542	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	16346210	53108542	196142079	5	92842											
HSD3B1	3283	broad.mit.edu	37	chr1	120050104	120050104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactttggatggccatgaCgggctggagctgccttgtga	15	9	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:120050104C>T	uc001ehv.1	+	2	150	c.5C>T	c.(4-6)ACG>ATG	p.T2M	HSD3B1_uc001ehw.2_Missense_Mutation_p.T4M	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	2					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			ovary(2)	2	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)	ATGGCCATGACGGGCTGGAGC	0.542													T	120050104	C	T	120050104	3	4	170	1	0	0	0	0	1	0	0	0	7390	536	19	1	7	1	HSD3B1	1	120050104	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	66941562	120050104	129200517	6	92843											
NPR1	4881	broad.mit.edu	37	chr1	153661563	153661563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggccctgctctaccAgatcctgcctcagtgagtgc	12	14	2	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:153661563A>G	uc001fcs.3	+	16	2973	c.2552A>G	c.(2551-2553)CAG>CGG	p.Q851R	NPR1_uc010pdz.1_Missense_Mutation_p.Q597R|NPR1_uc010pea.1_Missense_Mutation_p.Q329R	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	851	Cytoplasmic (Potential).				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			ovary(3)|lung(2)|stomach(1)|breast(1)	7	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)	CTGCTCTACCAGATCCTGCCT	0.627													G	153661563	A	G	153661563	3	3	170	1	0	0	0	0	1	0	0	0	10594	188	7	3	2614	3	NPR1	1	153661563	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	33611459	153661563	95589058	7	92844											
FCRLA	84824	broad.mit.edu	37	chr1	161680576	161680576	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttgagacgctgcagtgtGagggacctgtctgcactgag	15	8	1	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:161680576G>A	uc001gbe.2	+	3	417	c.175G>A	c.(175-177)GAG>AAG	p.E59K	FCRLA_uc001gbd.2_Missense_Mutation_p.E53K|FCRLA_uc001gbf.2_Missense_Mutation_p.E53K|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.E53K|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	36					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCTGCAGTGTGAGGGACCTGT	0.542													A	161680576	G	A	161680576	3	1	170	1	0	0	0	0	1	0	0	0	5800	1291	45	4	185	4	FCRLA	1	161680576	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	8019013	161680576	87570045	8	92845											
C1orf112	55732	broad.mit.edu	37	chr1	169816931	169816931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaggaaaactttttatacCtgaagctatccaggtaatat	6	6	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:169816931C>T	uc001ggp.2	+	21	2355	c.2045C>T	c.(2044-2046)CCT>CTT	p.P682L	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.P682L|C1orf112_uc009wvt.2_Missense_Mutation_p.P359L|C1orf112_uc009wvu.1_Missense_Mutation_p.P558L|C1orf112_uc001ggr.2_Missense_Mutation_p.P547L|C1orf112_uc010plv.1_Missense_Mutation_p.P624L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	682											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTTTTATACCTGAAGCTATC	0.328													T	169816931	C	T	169816931	3	4	170	1	0	0	0	0	1	0	0	0	1985	681	24	4	2115	4	C1orf112	1	169816931	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	8136355	169816931	79433690	9	92846											
FMN2	56776	broad.mit.edu	37	chr1	240370099	240370099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtccttgtcgcccttcagGaagttgttgacatgaagtct	10	10	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:240370099G>A	uc010pyd.1	+	5	2212	c.1987G>A	c.(1987-1989)GAA>AAA	p.E663K	FMN2_uc010pye.1_Missense_Mutation_p.E667K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	663					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCTTCAGGAAGTTGTTGA	0.393													A	240370099	G	A	240370099	3	1	170	1	0	0	0	0	1	0	0	0	5950	1188	41	4	2005	4	FMN2	1	240370099	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	70553168	240370099	8880522	10	92847											
AHCTF1	25909	broad.mit.edu	37	chr1	247024375	247024375	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgacggtgcatcctgatactCtaaggtagtctcatcggatg	11	9	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:247024375C>T	uc001ibu.1	-	28	3965	c.3958G>A	c.(3958-3960)GAG>AAG	p.E1320K	AHCTF1_uc001ibv.1_Missense_Mutation_p.E1329K|AHCTF1_uc009xgs.1_Missense_Mutation_p.E181K|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1320	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			ovary(5)|skin(2)	7	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)			TCCTGATACTCTAAGGTAGTC	0.453													T	247024375	C	T	247024375	3	4	170	1	0	0	0	0	1	0	0	0	408	922	32	4	2874	4	AHCTF1	1	247024375	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	6654276	247024375	2226246	11	92848											
OR6F1	343169	broad.mit.edu	37	chr1	247875864	247875864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctccaggaaggagaggTtgctcagaaagaagtacatg	12	6	2	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr1:247875864T>G	uc001idj.1	-	1	194	c.194A>C	c.(193-195)AAC>ACC	p.N65T		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			GAAGGAGAGGTTGCTCAGAAA	0.483													G	247875864	T	G	247875864	3	3	170	1	0	0	0	0	1	0	0	0	11201	1725	60	5	736	5	OR6F1	1	247875864	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	851489	247875864	1374757	12	92849											
WDR35	57539	broad.mit.edu	37	chr2	20133220	20133220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgactacatttcaaaaatGcagtcactgcttgttcacac	6	10	3	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:20133220G>A	uc002rdi.2	-	23	2741	c.2633C>T	c.(2632-2634)GCA>GTA	p.A878V	WDR35_uc002rdj.2_Missense_Mutation_p.A867V|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Intron	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	878										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCAAAAATGCAGTCACTGC	0.383													A	20133220	G	A	20133220	3	1	170	1	0	0	0	0	1	0	0	0	17286	1319	46	2	936	2	WDR35	2	20133220	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08		20133220	223066153	13	92850											
CAPN13	92291	broad.mit.edu	37	chr2	30985951	30985951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagccagccttacctgCtcagccccagtcacagtgta	8	17	2	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:30985951C>T	uc002rnn.2	-	7	947	c.771G>A	c.(769-771)GAG>GAA	p.E257E	CAPN13_uc002rnp.1_Silent_p.E257E	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	257	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCCTTACCTGCTCAGCCCCAG	0.547													T	30985951	C	T	30985951	2	4	170	1	0	0	0	0	0	0	0	1	2626	796	28	2		2	CAPN13	2	30985951	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08	10852731	30985951	212213422	14	92851											
UGGT1	56886	broad.mit.edu	37	chr2	128918778	128918778	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcctcgaaaatatcAtcttaaaaacctcaggacag	4	13	3	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:128918778A>C	uc002tps.2	+	25	2939	c.2761A>C	c.(2761-2763)ATC>CTC	p.I921L	UGGT1_uc010fme.1_Missense_Mutation_p.I796L|UGGT1_uc002tpr.2_Missense_Mutation_p.I897L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	921					'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			ovary(1)	1						CGAAAATATCATCTTAAAAAC	0.418													C	128918778	A	C	128918778	3	2	170	1	0	0	0	0	1	0	0	0	16938	217	8	5	2859	5	UGGT1	2	128918778	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	97932827	128918778	114280595	15	92852											
NCKAP5	344148	broad.mit.edu	37	chr2	133540771	133540771	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggtagggtcacatttctttCacccgctgtgatctccatgc	9	13	4	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:133540771C>T	uc002ttp.2	-	14	3987	c.3613G>A	c.(3613-3615)GAA>AAA	p.E1205K	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1205							protein binding				0						ACATTTCTTTCACCCGCTGTG	0.488													T	133540771	C	T	133540771	3	4	170	1	0	0	0	0	1	0	0	0	10223	835	29	4	2144	4	NCKAP5	2	133540771	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	4621993	133540771	109658602	16	92853											
PRPF40A	55660	broad.mit.edu	37	chr2	153573876	153573876	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatttcactcaccatgagGcctccacgctcagctcccgt	6	18	3	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:153573876G>T	uc002tyi.2	-	1	46	c.33C>A	c.(31-33)GGC>GGA	p.G11G	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Silent_p.G26G|PRPF40A_uc010zcd.1_Silent_p.G26G|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.G11G	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	11					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TCACCATGAGGCCTCCACGCT	0.647													T	153573876	G	T	153573876	2	4	170	1	0	0	0	0	0	0	0	1	12571	1190	42	5		5	PRPF40A	2	153573876	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08	20033105	153573876	89625497	17	92854											
SLC4A10	57282	broad.mit.edu	37	chr2	162751304	162751304	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agaatgggatccaagcattcGaatagagcctcccaaaaatg	9	9	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:162751304G>C	uc002ubx.3	+	11	1494	c.1310G>C	c.(1309-1311)CGA>CCA	p.R437P	SLC4A10_uc010fpa.1_Missense_Mutation_p.R449P|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R407P|SLC4A10_uc010zcs.1_Missense_Mutation_p.R418P	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	437	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CCAAGCATTCGAATAGAGCCT	0.353													C	162751304	G	C	162751304	3	2	170	1	0	0	0	0	1	0	0	0	14651	1058	37	5	1437	5	SLC4A10	2	162751304	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	9177428	162751304	80448069	18	92855											
PTPRN	5798	broad.mit.edu	37	chr2	220167050	220167050	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgaaaaagctgggcaggtGaaggccctggaaggtccccg	15	10	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:220167050G>A	uc002vkz.2	-	6	892	c.803C>T	c.(802-804)TCA>TTA	p.S268L	PTPRN_uc010zlc.1_Missense_Mutation_p.S178L|PTPRN_uc002vla.2_Missense_Mutation_p.S268L	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	268	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTGGGCAGGTGAAGGCCCTGG	0.632													A	220167050	G	A	220167050	3	1	170	1	0	0	0	0	1	0	0	0	12807	1294	45	4	2208	4	PTPRN	2	220167050	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	57415746	220167050	23032323	19	92856											
UGT1A5	54579	broad.mit.edu	37	chr2	234676494	234676494	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctttttgcccctcccaGgtcctgtggcggtacactgg	11	14	1	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:234676494G>A	uc002vuw.2	+	3	1000	c.1000_splice	c.e3-1	p.V334_splice	UGT1A8_uc010zmv.1_Splice_Site_p.V330_splice|UGT1A8_uc002vup.2_Splice_Site_p.V330_splice|UGT1A10_uc002vuq.3_Splice_Site_p.V330_splice|UGT1A10_uc002vur.2_Splice_Site_p.V330_splice|UGT1A9_uc010zmw.1_Splice_Site_p.V330_splice|UGT1A9_uc002vus.2_Splice_Site_p.V330_splice|UGT1A7_uc010zmx.1_Splice_Site_p.V330_splice|UGT1A7_uc002vut.2_Splice_Site_p.V330_splice|UGT1A6_uc002vuu.2_Splice_Site_p.V65_splice|UGT1A6_uc010zmy.1_Splice_Site_p.V332_splice|UGT1A6_uc002vuv.3_Splice_Site_p.V332_splice|UGT1A5_uc010zmz.1_Splice_Site_p.V334_splice|UGT1A4_uc010zna.1_Splice_Site_p.V334_splice|UGT1A4_uc002vux.2_Splice_Site_p.V334_splice|UGT1A3_uc010znb.1_Splice_Site_p.V334_splice|UGT1A3_uc002vuy.2_Splice_Site_p.V334_splice|UGT1A9_uc002vva.2_Splice_Site|UGT1A1_uc010znc.1_Splice_Site_p.V333_splice|UGT1A1_uc002vvb.2_Splice_Site_p.V333_splice	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		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)		GCCCCTCCCAGGTCCTGTGGC	0.453													A	234676494	G	A	234676494	5	1	170	1	0	0	0	0	0	0	1	0	16945	1014	35	4	1009	4	UGT1A5	2	234676494	Splice_Site	SNP	G	TCGA-CG-4440-01A-01D-1158-08	14509444	234676494	8522879	20	92857											
CXCR7	57007	broad.mit.edu	37	chr2	237489447	237489447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccagtggcccatgggCgagctcacgtgcaaagtcac	11	14	2	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr2:237489447C>T	uc010fyq.2	+	3	569	c.339C>T	c.(337-339)GGC>GGT	p.G113G	CXCR7_uc002vwd.2_Silent_p.G113G	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	113	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GGCCCATGGGCGAGCTCACGT	0.562													T	237489447	C	T	237489447	2	4	170	1	0	0	0	0	0	0	0	1	4096	755	27	1		1	CXCR7	2	237489447	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08	2812953	237489447	5709926	21	92858											
OXSR1	9943	broad.mit.edu	37	chr3	38207426	38207426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggacgattacgagctgcAggaggtgatcggtgagagca	17	7	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:38207426A>C	uc003chy.2	+	1	401	c.59A>C	c.(58-60)CAG>CCG	p.Q20P	OXSR1_uc010hhb.2_5'UTR|OXSR1_uc010hha.1_5'UTR	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	20	Protein kinase.				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)		TACGAGCTGCAGGAGGTGATC	0.716													C	38207426	A	C	38207426	3	2	170	1	0	0	0	0	1	0	0	0	11336	188	7	5	61	5	OXSR1	3	38207426	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08		38207426	159815004	22	92859											
SCN10A	6336	broad.mit.edu	37	chr3	38797307	38797307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggttgtaaggatcagagCggggtgatttgttgtcttct	15	5	3	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:38797307C>T	uc003ciq.2	-	10	1433	c.1433G>A	c.(1432-1434)CGC>CAC	p.R478H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	478					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	AGGATCAGAGCGGGGTGATTT	0.274													T	38797307	C	T	38797307	3	4	170	1	0	0	0	0	1	0	0	0	13912	768	27	1	4509	1	SCN10A	3	38797307	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	589881	38797307	159225123	23	92860											
CEP97	79598	broad.mit.edu	37	chr3	101451490	101451490	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatggatatgtgatttctcaGaaggaaaggtaaacatgtgc	12	4	1	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:101451490G>A	uc003dvk.1	+	6	747	c.720G>A	c.(718-720)CAG>CAA	p.Q240Q	CEP97_uc010hpm.1_Silent_p.Q206Q|CEP97_uc011bhf.1_Silent_p.Q240Q|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Silent_p.Q78Q	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	240	LRRCT.					centrosome|nucleus	protein binding			ovary(2)	2						TGATTTCTCAGAAGGAAAGGT	0.393													A	101451490	G	A	101451490	2	1	170	1	0	0	0	0	0	0	0	1	3263	933	33	4		4	CEP97	3	101451490	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08	62654183	101451490	96570940	24	92861											
DPPA4	55211	broad.mit.edu	37	chr3	109049629	109049629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcaatgatttccggaTtttggcctcttttgctgtgc	9	8	1	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:109049629T>C	uc003dxq.3	-	5	476	c.421A>G	c.(421-423)ATC>GTC	p.I141V	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.I141V	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	141						nucleus	protein binding			upper_aerodigestive_tract(1)	1						GATTTCCGGATTTTGGCCTCT	0.368													C	109049629	T	C	109049629	3	2	170	1	0	0	0	0	1	0	0	0	4736	1493	52	3	505	3	DPPA4	3	109049629	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	7598139	109049629	88972801	25	92862											
QTRTD1	79691	broad.mit.edu	37	chr3	113804674	113804674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacactactttgggtttTtccattacatccgggaagca	8	9	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:113804674T>C	uc003eay.2	+	10	1401	c.1171T>C	c.(1171-1173)TTC>CTC	p.F391L	QTRTD1_uc003eaz.2_Missense_Mutation_p.F403L|QTRTD1_uc011biq.1_Missense_Mutation_p.F268L|QTRTD1_uc011bir.1_Missense_Mutation_p.F285L	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	391					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						CTTTGGGTTTTTCCATTACAT	0.468													C	113804674	T	C	113804674	3	2	170	1	0	0	0	0	1	0	0	0	12886	1841	64	3	1201	3	QTRTD1	3	113804674	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	4755045	113804674	84217756	26	92863											
GSK3B	2932	broad.mit.edu	37	chr3	119720972	119720972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttggcttgatataccacaCcaaatgatccatttccaatc	5	11	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:119720972C>A	uc003edo.2	-	2	1186	c.203G>T	c.(202-204)GGT>GTT	p.G68V	GSK3B_uc003edn.2_Missense_Mutation_p.G68V	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	68	Protein kinase.|ATP (By similarity).				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			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ATATACCACACCAAATGATCC	0.438													A	119720972	C	A	119720972	3	1	170	1	0	0	0	0	1	0	0	0	6824	507	18	5	1142	5	GSK3B	3	119720972	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	5916298	119720972	78301458	27	92864											
POLQ	10721	broad.mit.edu	37	chr3	121238895	121238895	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatgagaccttgacgaaaggCtccttcaatgatatccctct	7	11	2	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:121238895C>G	uc003eee.3	-	9	1420	c.1291G>C	c.(1291-1293)GCC>CCC	p.A431P		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	431	Helicase C-terminal.				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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TGACGAAAGGCTCCTTCAATG	0.378								DNA_polymerases_(catalytic_subunits)					G	121238895	C	G	121238895	3	3	170	1	0	0	0	0	1	0	0	0	12208	797	28	5	6569	5	POLQ	3	121238895	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	1517923	121238895	76783535	28	92865											
PDIA5	10954	broad.mit.edu	37	chr3	122864408	122864408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagccggagtttgagaAggcagcagaagccctccatg	13	9	0	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:122864408A>G	uc003egc.1	+	12	1006	c.950A>G	c.(949-951)AAG>AGG	p.K317R	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	317	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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		GAGTTTGAGAAGGCAGCAGAA	0.512													G	122864408	A	G	122864408	3	3	170	1	0	0	0	0	1	0	0	0	11671	72	3	3	996	3	PDIA5	3	122864408	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	1625513	122864408	75158022	29	92866											
IFT122	55764	broad.mit.edu	37	chr3	129226544	129226544	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacacaatgcttggcaagtTctaccacttccagcgtttgg	10	11	1	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:129226544T>G	uc003emm.2	+	23	3031	c.2825T>G	c.(2824-2826)TTC>TGC	p.F942C	IFT122_uc003eml.2_Missense_Mutation_p.F993C|IFT122_uc003emn.2_Missense_Mutation_p.F883C|IFT122_uc003emo.2_Missense_Mutation_p.F832C|IFT122_uc003emp.2_Missense_Mutation_p.F792C|IFT122_uc010htc.2_Missense_Mutation_p.F935C|IFT122_uc011bky.1_Missense_Mutation_p.F733C|IFT122_uc003emq.2_Missense_Mutation_p.F782C|IFT122_uc003emr.2_Missense_Mutation_p.F695C|IFT122_uc011bla.1_Missense_Mutation_p.F716C|IFT122_uc010hte.2_Missense_Mutation_p.F268C|IFT122_uc003ems.2_Missense_Mutation_p.F324C|IFT122_uc011bkx.1_Missense_Mutation_p.F783C|IFT122_uc010htd.1_Missense_Mutation_p.F421C	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	942					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CTTGGCAAGTTCTACCACTTC	0.577													G	129226544	T	G	129226544	3	3	170	1	0	0	0	0	1	0	0	0	7555	1783	62	5	3075	5	IFT122	3	129226544	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	6362136	129226544	68795886	30	92867											
PRKCI	5584	broad.mit.edu	37	chr3	170013719	170013719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttattttggaaaaacaaattCgcataccacgttctctgtct	5	9	2	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:170013719C>A	uc003fgs.2	+	15	1676	c.1438C>A	c.(1438-1440)CGC>AGC	p.R480S	PRKCI_uc003fgt.2_Missense_Mutation_p.R35S	NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	480	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.R471C(1)		lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAACAAATTCGCATACCACG	0.229													A	170013719	C	A	170013719	3	1	170	1	0	0	0	0	1	0	0	0	12514	884	31	5	1496	5	PRKCI	3	170013719	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	40787175	170013719	28008711	31	92868											
NLGN1	22871	broad.mit.edu	37	chr3	173998882	173998882	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatccacatgaggtggttcTtcggaccgcctgtcccccag	10	15	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr3:173998882T>A	uc003fio.1	+	7	2684	c.2261T>A	c.(2260-2262)CTT>CAT	p.L754H	NLGN1_uc003fip.1_Missense_Mutation_p.L754H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	771	Cytoplasmic (Potential).				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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GAGGTGGTTCTTCGGACCGCC	0.463													A	173998882	T	A	173998882	3	1	170	1	0	0	0	0	1	0	0	0	10461	1609	56	5	2279	5	NLGN1	3	173998882	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	3985163	173998882	24023548	32	92869											
KIAA1211	57482	broad.mit.edu	37	chr4	57189674	57189674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggagcagcaggcgacgCgggaggagagaaagcaagcc	18	9	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:57189674C>T	uc003hbk.2	+	9	3710	c.3319C>T	c.(3319-3321)CGG>TGG	p.R1107W	KIAA1211_uc010iha.2_Missense_Mutation_p.R1100W	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1107										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCAGGCGACGCGGGAGGAGAG	0.512													T	57189674	C	T	57189674	3	4	170	1	0	0	0	0	1	0	0	0	8215	759	27	1	3341	1	KIAA1211	4	57189674	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08		57189674	133964602	33	92870											
LPHN3	23284	broad.mit.edu	37	chr4	62758415	62758415	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatgggaagcactaccAccagtaccacccttcggacc	9	15	0	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:62758415A>T	uc010ihh.2	+	7	1491	c.1318A>T	c.(1318-1320)ACC>TCC	p.T440S	LPHN3_uc003hcq.3_Missense_Mutation_p.T440S|LPHN3_uc003hcs.1_Missense_Mutation_p.T269S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	440	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AAGCACTACCACCAGTACCAC	0.488													T	62758415	A	T	62758415	3	4	170	1	0	0	0	0	1	0	0	0	8917	159	6	5	1344	5	LPHN3	4	62758415	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	5568741	62758415	128395861	34	92871											
EPHA5	2044	broad.mit.edu	37	chr4	66189849	66189849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttacaatggcaccattcCgtttaccagctgcaccttca	6	13	1	0	rs139793674		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:66189849C>T	uc003hcy.2	-	18	3290	c.3097G>A	c.(3097-3099)GGA>AGA	p.G1033R	EPHA5_uc003hcx.2_Missense_Mutation_p.G965R|EPHA5_uc003hcz.2_Missense_Mutation_p.G1011R|EPHA5_uc011cah.1_Missense_Mutation_p.G1034R|EPHA5_uc011cai.1_Missense_Mutation_p.G1012R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1033	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGCACCATTCCGTTTACCAGC	0.418										TSP Lung(17;0.13)			T	66189849	C	T	66189849	3	4	170	1	0	0	0	0	1	0	0	0	5170	661	23	1	20	1	EPHA5	4	66189849	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	3431434	66189849	124964427	35	92872											
GC	2638	broad.mit.edu	37	chr4	72631275	72631275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagctttcgttccaggCcctctttggtgcagcactca	10	13	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:72631275C>T	uc003hge.2	-	4	500	c.347G>A	c.(346-348)GGC>GAC	p.G116D	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.G116D|GC_uc010iif.2_Missense_Mutation_p.G135D	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	116	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCGTTCCAGGCCCTCTTTGGT	0.532													T	72631275	C	T	72631275	3	4	170	1	0	0	0	0	1	0	0	0	6282	739	26	2	1113	2	GC	4	72631275	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	6441426	72631275	118523001	36	92873											
FRAS1	80144	broad.mit.edu	37	chr4	79421075	79421075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcttgaagttcagtcccGgtaattgaatgccaacctca	9	10	3	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:79421075G>A	uc003hlb.2	+	61	9756	c.9316G>A	c.(9316-9318)GGT>AGT	p.G3106S	FRAS1_uc003hlc.1_Missense_Mutation_p.G108S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3101	Calx-beta 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GTTCAGTCCCGGTAATTGAAT	0.318													A	79421075	G	A	79421075	3	1	170	1	0	0	0	0	1	0	0	0	6042	1130	39	1	9633	1	FRAS1	4	79421075	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	6789800	79421075	111733201	37	92874											
TMSL3	7117	broad.mit.edu	37	chr4	91760143	91760143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtcttcttcagtttcgGcttatcgaatttctcgatct	6	11	6	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:91760143G>A	uc003hsy.2	-	1	127	c.46C>T	c.(46-48)CCG>TCG	p.P16S	FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	NM_183049	NP_898870			thymosin-like 3												0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)		TTCAGTTTCGGCTTATCGAAT	0.517													A	91760143	G	A	91760143	3	1	170	1	0	0	0	0	1	0	0	0	16256	1203	42	2	92	2	TMSL3	4	91760143	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	12339068	91760143	99394133	38	92875											
CCNA2	890	broad.mit.edu	37	chr4	122740665	122740665	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccattctcagaacttgtttCttggtgtaggtatcatctgt	8	8	4	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:122740665C>T	uc003iec.3	-	5	1169	c.864G>A	c.(862-864)AAG>AAA	p.K288K		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	288					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			ovary(1)	1						GAACTTGTTTCTTGGTGTAGG	0.358													T	122740665	C	T	122740665	2	4	170	1	0	0	0	0	0	0	0	1	2910	912	32	4		4	CCNA2	4	122740665	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08	30980522	122740665	68413611	39	92876											
SPRY1	10252	broad.mit.edu	37	chr4	124323037	124323037	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagacacacaagccacctGggacatgcagtactcccaag	8	15	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:124323037G>T	uc003ifa.2	+	2	479	c.291G>T	c.(289-291)CTG>CTT	p.L97L	SPRY1_uc003ifb.2_Silent_p.L97L	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	97					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						CAAGCCACCTGGGACATGCAG	0.493													T	124323037	G	T	124323037	2	4	170	1	0	0	0	0	0	0	0	1	15104	1335	47	5		5	SPRY1	4	124323037	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08	1582372	124323037	66831239	40	92877											
MLF1IP	79682	broad.mit.edu	37	chr4	185637777	185637777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcactaatgggcctgagcTttcttcctggctgtgtgaaa	10	10	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr4:185637777T>G	uc003iwq.2	-	6	462	c.392A>C	c.(391-393)AAG>ACG	p.K131T	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Missense_Mutation_p.K131T	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	131					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GGGCCTGAGCTTTCTTCCTGG	0.343													G	185637777	T	G	185637777	3	3	170	1	0	0	0	0	1	0	0	0	9615	1609	56	5	896	5	MLF1IP	4	185637777	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	61314740	185637777	5516499	41	92878											
DNAJC21	134218	broad.mit.edu	37	chr5	34939087	34939087	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggatgaaaatgaaatggaaGaacatgaactcaaagatgag	11	4	1	6			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:34939087G>C	uc003jjc.2	+	6	1095	c.868G>C	c.(868-870)GAA>CAA	p.E290Q	DNAJC21_uc003jjb.2_Missense_Mutation_p.E290Q|DNAJC21_uc010iuu.1_Missense_Mutation_p.E174Q	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	290	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGAAATGGAAGAACATGAACT	0.308													C	34939087	G	C	34939087	3	2	170	1	0	0	0	0	1	0	0	0	4640	943	33	5	890	5	DNAJC21	5	34939087	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08		34939087	145976173	42	92879											
PTCD2	79810	broad.mit.edu	37	chr5	71634515	71634515	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctactcaaaggagaaattCtctccaggagagcatcctgt	8	11	3	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:71634515C>G	uc003kcb.2	+	7	716	c.706C>G	c.(706-708)CTC>GTC	p.L236V	PTCD2_uc011csf.1_Missense_Mutation_p.L46V|PTCD2_uc003kcc.2_Missense_Mutation_p.L84V|PTCD2_uc011csg.1_Missense_Mutation_p.L64V|PTCD2_uc011csh.1_Missense_Mutation_p.L127V|PTCD2_uc003kcd.2_RNA	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	236											0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AGGAGAAATTCTCTCCAGGAG	0.418													G	71634515	C	G	71634515	3	3	170	1	0	0	0	0	1	0	0	0	12728	913	32	5	732	5	PTCD2	5	71634515	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	36695428	71634515	109280745	43	92880											
PCDHB14	56122	broad.mit.edu	37	chr5	140603363	140603363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactagaccgagacgagctgTgtggctccaccgagccctgt	12	13	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:140603363T>C	uc003ljb.2	+	1	286	c.286T>C	c.(286-288)TGT>CGT	p.C96R	PCDHB14_uc011dal.1_Intron	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	96	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACGAGCTGTGTGGCTCCAC	0.438													C	140603363	T	C	140603363	3	2	170	1	0	0	0	0	1	0	0	0	11539	1696	59	3	288	3	PCDHB14	5	140603363	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	68968848	140603363	40311897	44	92881											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750067	140750067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaaccgatccgctacGctattcccgaggagctggac	10	15	1	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr5:140750067G>A	uc003ljw.1	+	1	106	c.106G>A	c.(106-108)GCT>ACT	p.A36T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.A36T	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	36	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCGCTACGCTATTCCCGA	0.577													A	140750067	G	A	140750067	3	1	170	1	0	0	0	0	1	0	0	0	11564	1087	38	1	108	1	PCDHGB3	5	140750067	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	146704	140750067	40165193	45	92882											
TDRD6	221400	broad.mit.edu	37	chr6	46656928	46656928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaaggaaggagttagtgAgttgcagcagccttcggtac	15	6	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr6:46656928A>G	uc003oyj.2	+	1	1063	c.1063A>G	c.(1063-1065)AGT>GGT	p.S355G	TDRD6_uc010jze.2_Missense_Mutation_p.S349G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	355	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GGAGTTAGTGAGTTGCAGCAG	0.542													G	46656928	A	G	46656928	3	3	170	1	0	0	0	0	1	0	0	0	15731	304	11	3	1065	3	TDRD6	6	46656928	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08		46656928	124458139	46	92883											
DPPA5	340168	broad.mit.edu	37	chr6	74063727	74063727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggccttgctcacctgctcGatgtaagggattcgagatcc	11	11	1	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr6:74063727G>A	uc003pgs.1	-	2	146	c.141C>T	c.(139-141)ATC>ATT	p.I47I		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	47	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding				0						TCACCTGCTCGATGTAAGGGA	0.612													A	74063727	G	A	74063727	2	1	170	1	0	0	0	0	0	0	0	1	4737	1048	37	1		1	DPPA5	6	74063727	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08	27406799	74063727	97051340	47	92884											
SYNE1	23345	broad.mit.edu	37	chr6	152712629	152712629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggagctgggaacacaggCggccctcctgcccagcaccg	14	15	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr6:152712629C>T	uc010kiw.2	-	52	8389	c.7787G>A	c.(7786-7788)CGC>CAC	p.R2596H	SYNE1_uc003qot.3_Missense_Mutation_p.R2603H|SYNE1_uc003qou.3_Missense_Mutation_p.R2596H|SYNE1_uc010kjb.1_Missense_Mutation_p.R2579H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2596	Cytoplasmic (Potential).|Spectrin 5.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAACACAGGCGGCCCTCCTG	0.512										HNSCC(10;0.0054)			T	152712629	C	T	152712629	3	4	170	1	0	0	0	0	1	0	0	0	15442	768	27	1	19059	1	SYNE1	6	152712629	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	78648902	152712629	18402438	48	92885											
PRKAR1B	5575	broad.mit.edu	37	chr7	716895	716895	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgtcatccaggtgagcgaaGagcacgttcttggagatggc	14	8	2	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:716895G>C	uc003siu.1	-	5	517	c.411C>G	c.(409-411)CTC>CTG	p.L137L	PRKAR1B_uc003siv.2_Silent_p.L137L|PRKAR1B_uc003siw.1_Silent_p.L137L	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	137	cAMP 1.				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				0		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)		GGTGAGCGAAGAGCACGTTCT	0.632													C	716895	G	C	716895	2	2	170	1	0	0	0	0	0	0	0	1	12504	929	33	5		5	PRKAR1B	7	716895	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08		716895	158421768	49	92886											
FKBP14	55033	broad.mit.edu	37	chr7	30058688	30058688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatcttggtccatttcgaAtctccaggagatcaatatta	9	8	3	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:30058688A>C	uc003tal.1	-	3	545	c.401T>G	c.(400-402)ATT>AGT	p.I134S	FKBP14_uc010kvq.1_RNA	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	134	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TCCATTTCGAATCTCCAGGAG	0.383													C	30058688	A	C	30058688	3	2	170	1	0	0	0	0	1	0	0	0	5904	101	4	5	242	5	FKBP14	7	30058688	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	29341793	30058688	129079975	50	92887											
TNS3	64759	broad.mit.edu	37	chr7	47408817	47408817	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catctcgtcatccagaatgtCtgtctcccgatccttcagag	7	14	5	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:47408817C>T	uc003tnv.2	-	17	1793	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N	TNS3_uc003tnw.2_Missense_Mutation_p.D476N	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	476						focal adhesion	protein binding			ovary(4)	4						TCCAGAATGTCTGTCTCCCGA	0.612													T	47408817	C	T	47408817	3	4	170	1	0	0	0	0	1	0	0	0	16341	913	32	4	2971	4	TNS3	7	47408817	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	17350129	47408817	111729846	51	92888											
PCLO	27445	broad.mit.edu	37	chr7	82584756	82584756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacgtaactcttctgtcGgagatgcatcttcaatggga	10	10	4	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:82584756G>A	uc003uhx.2	-	5	5802	c.5513C>T	c.(5512-5514)CCG>CTG	p.P1838L	PCLO_uc003uhv.2_Missense_Mutation_p.P1838L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1769					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTCTTCTGTCGGAGATGCATC	0.428													A	82584756	G	A	82584756	3	1	170	1	0	0	0	0	1	0	0	0	11583	1116	39	1	10016	1	PCLO	7	82584756	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	35175939	82584756	76553907	52	92889											
ZNF804B	219578	broad.mit.edu	37	chr7	88847482	88847482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaggattttgcagaaaAgaagtccacagcaaaggccc	9	9	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:88847482A>C	uc011khi.1	+	2	660	c.122A>C	c.(121-123)AAG>ACG	p.K41T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	41						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGCAGAAAAGAAGTCCACA	0.343										HNSCC(36;0.09)			C	88847482	A	C	88847482	3	2	170	1	0	0	0	0	1	0	0	0	18168	72	3	5	128	5	ZNF804B	7	88847482	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	6262726	88847482	70291181	53	92890											
PTPRZ1	5803	broad.mit.edu	37	chr7	121679509	121679509	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctacattttcttttgcagaGaaaatgtgatcagtactggc	8	7	3	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:121679509G>T	uc003vjy.2	+	20	5899	c.5504G>T	c.(5503-5505)AGA>ATA	p.R1835I	PTPRZ1_uc003vjz.2_Missense_Mutation_p.R968I|PTPRZ1_uc011knt.1_Missense_Mutation_p.R425I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1835	Cytoplasmic (Potential).|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			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CTTTTGCAGAGAAAATGTGAT	0.433													T	121679509	G	T	121679509	3	4	170	1	0	0	0	0	1	0	0	0	12814	956	33	5	5582	5	PTPRZ1	7	121679509	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	32832027	121679509	37459154	54	92891											
CASP2	835	broad.mit.edu	37	chr7	142991371	142991371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggtcctgtctgccttcAggtgaagccttgcactcctg	11	12	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:142991371A>G	uc003wco.2	+	5	671	c.524A>G	c.(523-525)CAG>CGG	p.Q175R	CASP2_uc003wcp.2_Splice_Site_p.C103_splice|CASP2_uc011kta.1_Missense_Mutation_p.Q59R|CASP2_uc003wcq.2_RNA	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	175					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			lung(2)|ovary(1)	3	Melanoma(164;0.059)					GTCTGCCTTCAGGTGAAGCCT	0.403													G	142991371	A	G	142991371	3	3	170	1	0	0	0	0	1	0	0	0	2671	202	7	3	542	3	CASP2	7	142991371	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	21311862	142991371	16147292	55	92892											
DPP6	1804	broad.mit.edu	37	chr7	154564623	154564623	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggacccacccatgatctggaGatgatgccgcctgatgatcc	11	13	1	5			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr7:154564623G>T	uc003wlk.2	+	10	1236	c.1107G>T	c.(1105-1107)GAG>GAT	p.E369D	DPP6_uc003wli.2_Missense_Mutation_p.E305D|DPP6_uc003wlm.2_Missense_Mutation_p.E307D|DPP6_uc011kvq.1_Missense_Mutation_p.E262D	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	369	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			ATGATCTGGAGATGATGCCGC	0.433													T	154564623	G	T	154564623	3	4	170	1	0	0	0	0	1	0	0	0	4730	933	33	5	1261	5	DPP6	7	154564623	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	11573252	154564623	4574040	56	92893											
NRG1	3084	broad.mit.edu	37	chr8	32621861	32621861	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caggccgcttctcgacacagGaagaaatccaggccaggctg	12	13	1	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:32621861G>T	uc003xiv.2	+	12	2381	c.1864G>T	c.(1864-1866)GAA>TAA	p.E622*	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Nonsense_Mutation_p.E627*|NRG1_uc003xiw.2_Nonsense_Mutation_p.E619*|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Nonsense_Mutation_p.E364*|NRG1_uc010lvs.2_Nonsense_Mutation_p.E364*|NRG1_uc010lvp.2_Nonsense_Mutation_p.E576*|NRG1_uc010lvq.2_Nonsense_Mutation_p.E559*|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Nonsense_Mutation_p.E465*|NRG1_uc003xja.2_Nonsense_Mutation_p.E433*	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	622	Cytoplasmic (Potential).				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|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|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTCGACACAGGAAGAAATCCA	0.493													T	32621861	G	T	32621861	4	4	170	1	0	0	0	0	0	1	0	0	10647	1175	41	5	3635	5	NRG1	8	32621861	Nonsense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08		32621861	113742161	57	92894											
TACC1	6867	broad.mit.edu	37	chr8	38677319	38677320	+	Frame_Shift_Ins	INS	-	-	GCCCGCCAGAC													ggcaaggctctgccttccagINScccgccagacgccctccagg							TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:38677318_38677319A>AGCCCGCCAGAC	uc010lwp.3	+	2	935_936	c.556_557A>AGCCCGCCAGAC	c.(556-558)agcfs	p.S186fs	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Frame_Shift_Ins_p.S141fs|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Frame_Shift_Ins_p.S202fs|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Frame_Shift_Ins_p.S186fs|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	186	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	p.S185S(1)		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)			TCTGCCTTCCAGCCCGCCAGAC	0.569													GCCCGCCAGAC	38677320	-	GCCCGCCAGAC	38677319	7	5	170	1	0	1	1	0	0	0	0	0	15498	971	34	0	567	0	TACC1	8	38677319	Frame_Shift_Ins	INS	-	TCGA-CG-4440-01A-01D-1158-08	6055458	38677319	107686703	58	92895											
ATP6V1H	51606	broad.mit.edu	37	chr8	54682258	54682258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtgcacaggactccaTtccaaccttccagatttaag	7	11	0	1	rs57348174	byFrequency	TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:54682258T>C	uc003xrl.2	-	11	1247	c.1095A>G	c.(1093-1095)GAA>GAG	p.E365E	ATP6V1H_uc003xrk.2_Silent_p.E325E|ATP6V1H_uc003xrm.2_Silent_p.E365E|ATP6V1H_uc003xrn.2_Silent_p.E347E|ATP6V1H_uc011ldv.1_Silent_p.E285E|ATP6V1H_uc010lyd.2_Silent_p.E301E	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	365					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				0		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)			CAGGACTCCATTCCAACCTTC	0.323													C	54682258	T	C	54682258	2	2	170	1	0	0	0	0	0	0	0	1	1189	1490	52	3		3	ATP6V1H	8	54682258	Silent	SNP	T	TCGA-CG-4440-01A-01D-1158-08	16004939	54682258	91681764	59	92896											
KHDRBS3	10656	broad.mit.edu	37	chr8	136594304	136594304	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccccgacacaagagacTtatggagaatatgtaagtga	9	10	0	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:136594304T>G	uc003yuv.2	+	6	1189	c.795T>G	c.(793-795)ACT>ACG	p.T265T	KHDRBS3_uc003yuw.2_Silent_p.T265T|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	265					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CACAAGAGACTTATGGAGAAT	0.527													G	136594304	T	G	136594304	2	3	170	1	0	0	0	0	0	0	0	1	8148	1596	56	5		5	KHDRBS3	8	136594304	Silent	SNP	T	TCGA-CG-4440-01A-01D-1158-08	81912046	136594304	9769718	60	92897											
PLEC	5339	broad.mit.edu	37	chr8	144995534	144995534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacgcggtggctgtgcaCggggtcgataacgccgcccg	18	13	0	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr8:144995534C>T	uc003zaf.1	-	32	9036	c.8866G>A	c.(8866-8868)GTG>ATG	p.V2956M	PLEC_uc003zab.1_Missense_Mutation_p.V2819M|PLEC_uc003zac.1_Missense_Mutation_p.V2823M|PLEC_uc003zad.2_Missense_Mutation_p.V2819M|PLEC_uc003zae.1_Missense_Mutation_p.V2787M|PLEC_uc003zag.1_Missense_Mutation_p.V2797M|PLEC_uc003zah.2_Missense_Mutation_p.V2805M|PLEC_uc003zaj.2_Missense_Mutation_p.V2846M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2956	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGGCTGTGCACGGGGTCGATA	0.682													T	144995534	C	T	144995534	3	4	170	1	0	0	0	0	1	0	0	0	12052	536	19	1	5192	1	PLEC	8	144995534	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	8401230	144995534	1368488	61	92898											
C9orf25	203259	broad.mit.edu	37	chr9	34401082	34401082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcatctaaccggtagccGtccttcagcagctggatgtt	9	12	3	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr9:34401082G>A	uc011lok.1	-	6	745	c.438C>T	c.(436-438)GAC>GAT	p.D146D	C9orf25_uc003zuj.2_Silent_p.D129D|C9orf25_uc003zuk.2_Silent_p.D118D|C9orf25_uc011lol.1_Silent_p.D134D|C9orf25_uc003zul.2_Silent_p.D117D	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	hypothetical protein LOC203259	146											0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)		ACCGGTAGCCGTCCTTCAGCA	0.617													A	34401082	G	A	34401082	2	1	170	1	0	0	0	0	0	0	0	1	2476	1136	40	1		1	C9orf25	9	34401082	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08		34401082	106812349	62	92899											
COL5A1	1289	broad.mit.edu	37	chr9	137619115	137619115	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtctcttcttttccagggtGacatccagcagctgctcttt	8	13	3	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr9:137619115G>A	uc004cfe.2	+	5	1040	c.658G>A	c.(658-660)GAC>AAC	p.D220N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	220	TSP N-terminal.|Laminin G-like.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		TTTCCAGGGTGACATCCAGCA	0.562													A	137619115	G	A	137619115	3	1	170	1	0	0	0	0	1	0	0	0	3696	1290	45	4	676	4	COL5A1	9	137619115	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	103218033	137619115	3594316	63	92900											
GTPBP4	23560	broad.mit.edu	37	chr10	1058414	1058414	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttttaaagaaattggaaGaattagaaaaagaagaagag	9	1	0	6			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:1058414G>T	uc001ift.2	+	14	1425	c.1354G>T	c.(1354-1356)GAA>TAA	p.E452*	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Nonsense_Mutation_p.E336*|GTPBP4_uc010qae.1_Nonsense_Mutation_p.E405*	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	452					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			ovary(1)|skin(1)	2		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)		GAAATTGGAAGAATTAGAAAA	0.408													T	1058414	G	T	1058414	4	4	170	1	0	0	0	0	0	1	0	0	6882	943	33	5	1408	5	GTPBP4	10	1058414	Nonsense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08		1058414	134476333	64	92901											
ADARB2	105	broad.mit.edu	37	chr10	1405937	1405937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgggcgccaccgaccaCgacagcttcttccagaccag	9	16	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:1405937C>T	uc009xhq.2	-	3	737	c.363G>A	c.(361-363)TCG>TCA	p.S121S		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	121					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCACCGACCACGACAGCTTCT	0.587													T	1405937	C	T	1405937	2	4	170	1	0	0	0	0	0	0	0	1	283	523	19	1		1	ADARB2	10	1405937	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08	347523	1405937	134128810	65	92902											
PARD3	56288	broad.mit.edu	37	chr10	34671584	34671584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcggatggtggttttcccGaggggtgtgcgctatgaggt	19	6	0	1	rs141769427		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:34671584G>A	uc010qej.1	-	9	1283	c.1283C>T	c.(1282-1284)TCG>TTG	p.S428L	PARD3_uc010qek.1_Missense_Mutation_p.S428L|PARD3_uc010qel.1_Missense_Mutation_p.S428L|PARD3_uc010qem.1_Missense_Mutation_p.S428L|PARD3_uc010qen.1_Missense_Mutation_p.S428L|PARD3_uc010qeo.1_Missense_Mutation_p.S428L|PARD3_uc010qep.1_Missense_Mutation_p.S384L|PARD3_uc010qeq.1_Missense_Mutation_p.S384L|PARD3_uc001ixo.1_Missense_Mutation_p.S158L|PARD3_uc001ixp.1_Missense_Mutation_p.S293L|PARD3_uc001ixq.1_Missense_Mutation_p.S428L|PARD3_uc001ixr.1_Missense_Mutation_p.S428L|PARD3_uc001ixt.1_Missense_Mutation_p.S249L|PARD3_uc001ixu.1_Missense_Mutation_p.S384L|PARD3_uc001ixs.1_Missense_Mutation_p.S81L	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	428					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			ovary(1)	1		Breast(68;0.0707)				TGGTTTTCCCGAGGGGTGTGC	0.517													A	34671584	G	A	34671584	3	1	170	1	0	0	0	0	1	0	0	0	11443	1059	37	1	2890	1	PARD3	10	34671584	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	33265647	34671584	100863163	66	92903											
PTEN	5728	broad.mit.edu	37	chr10	89653801	89653801	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatttatccaaacattatTgctatgggatttcctgcaga	7	7	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:89653801T>C	uc001kfb.2	+	3	1130	c.99T>C	c.(97-99)ATT>ATC	p.I33I		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	33	Phosphatase tensin-type.		Missing (in CD).		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.?(4)|p.Y27fs*1(2)|p.I33fs*21(2)|p.Y27_N212>Y(2)|p.I33del(1)|p.A34_G36del(1)|p.I33fs*20(1)|p.I33S(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		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)		CAAACATTATTGCTATGGGAT	0.294		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89653801	T	C	89653801	2	2	170	1	0	0	0	0	0	0	0	1	12738	1800	63	3		3	PTEN	10	89653801	Silent	SNP	T	TCGA-CG-4440-01A-01D-1158-08	54982217	89653801	45880946	67	92904											
SORBS1	10580	broad.mit.edu	37	chr10	97174384	97174384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaaggagccagaggcgCgggctggctggctgtggtgg	22	8	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:97174384C>T	uc001kkp.2	-	7	722	c.677G>A	c.(676-678)CGC>CAC	p.R226H	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.R226H|SORBS1_uc001kkq.2_Missense_Mutation_p.R157H|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.R194H|SORBS1_uc001kkw.2_Missense_Mutation_p.R226H|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.R424H|SORBS1_uc001kkx.1_Missense_Mutation_p.R194H	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	226				RAS -> SAC (in Ref. 3; AAF22175).	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			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCCAGAGGCGCGGGCTGGCTG	0.652													T	97174384	C	T	97174384	3	4	170	1	0	0	0	0	1	0	0	0	14927	768	27	1	3498	1	SORBS1	10	97174384	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	7520583	97174384	38360363	68	92905											
LZTS2	84445	broad.mit.edu	37	chr10	102765299	102765299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcacagcgggcacagCgggcccaacagctgctgcag	14	16	0	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr10:102765299C>T	uc001ksj.2	+	4	1222	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	LZTS2_uc010qpw.1_Missense_Mutation_p.R385W|LZTS2_uc001ksk.2_Missense_Mutation_p.R385W|LZTS2_uc001ksl.2_Missense_Mutation_p.R385W|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	385	Potential.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGGGCACAGCGGGCCCAACA	0.667													T	102765299	C	T	102765299	3	4	170	1	0	0	0	0	1	0	0	0	9139	759	27	1	1163	1	LZTS2	10	102765299	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	5590915	102765299	32769448	69	92906											
OR51B4	79339	broad.mit.edu	37	chr11	5322906	5322906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaacaggcagcatgggCaatctccctctggtctagca	12	11	3	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:5322906C>A	uc010qza.1	-	1	271	c.271G>T	c.(271-273)GCC>TCC	p.A91S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		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)		GCAGCATGGGCAATCTCCCTC	0.502													A	5322906	C	A	5322906	3	1	170	1	0	0	0	0	1	0	0	0	11090	710	25	5	664	5	OR51B4	11	5322906	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08		5322906	129683610	70	92907											
OR52N4	390072	broad.mit.edu	37	chr11	5776554	5776554	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtcctgtggtaatgtcaAggtcaatgccatctatggtc	10	8	3	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:5776554A>C	uc001mbu.2	+	1	632	c.584A>C	c.(583-585)AAG>ACG	p.K195T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		GGTAATGTCAAGGTCAATGCC	0.488													C	5776554	A	C	5776554	3	2	170	1	0	0	0	0	1	0	0	0	11129	72	3	5	586	5	OR52N4	11	5776554	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	453648	5776554	129229962	71	92908											
LUZP2	338645	broad.mit.edu	37	chr11	24750779	24750779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagcgaagcaccattcttCgtcagctgacaaagacatca	9	11	3	2	rs150458536		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:24750779C>T	uc001mqs.2	+	2	361	c.127C>T	c.(127-129)CGT>TGT	p.R43C	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Missense_Mutation_p.R43C	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	43	Potential.					extracellular region		p.R43C(1)		ovary(1)|skin(1)	2						CACCATTCTTCGTCAGCTGAC	0.433													T	24750779	C	T	24750779	3	4	170	1	0	0	0	0	1	0	0	0	9087	884	31	1	133	1	LUZP2	11	24750779	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	18974225	24750779	110255737	72	92909											
OR5I1	10798	broad.mit.edu	37	chr11	55703769	55703769	+	Missense_Mutation	SNP	C	C	A													cctatcagaattatagcataCaatgtcagaaacatgaggaa							TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:55703769C>A	uc010ris.1	-	1	108	c.108G>T	c.(106-108)TTG>TTT	p.L36F		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTATAGCATACAATGTCAGAA	0.393													A	55703769	C	A	55703769	3	1	170	1	0	0	0	0	1	0	0	0	11164	477	17	5	839	5	OR5I1	11	55703769	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	30952990	55703769	79302747	73	92910	448	2									
OR5I1	10798	broad.mit.edu	37	chr11	55703771	55703771	+	Missense_Mutation	SNP	A	A	T													tatcagaattatagcatacaAtgtcagaaacatgaggaaca					rs111994551	byFrequency	TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:55703771A>T	uc010ris.1	-	1	106	c.106T>A	c.(106-108)TTG>ATG	p.L36M		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATAGCATACAATGTCAGAAAC	0.393													T	55703771	A	T	55703771	3	4	170	1	0	0	0	0	1	0	0	0	11164	98	4	5	841	5	OR5I1	11	55703771	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	2	55703771	79302745	74	92911	448	2									
AHNAK	79026	broad.mit.edu	37	chr11	62298626	62298626	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caccctctatctttggtgcaGagatatctacatttcctttc	5	12	3	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:62298626G>C	uc001ntl.2	-	5	3563	c.3263C>G	c.(3262-3264)TCT>TGT	p.S1088C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1088					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTTTGGTGCAGAGATATCTAC	0.453													C	62298626	G	C	62298626	3	2	170	1	0	0	0	0	1	0	0	0	414	942	33	5	14529	5	AHNAK	11	62298626	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	6594855	62298626	72707890	75	92912											
CHRM1	1128	broad.mit.edu	37	chr11	62677615	62677615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtatttggggagctccGtgggggctgcttggtggggg	21	6	0	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:62677615G>A	uc001nwi.2	-	2	1359	c.958C>T	c.(958-960)CGG>TGG	p.R320W		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	320	Cytoplasmic (Potential).				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				0					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)	GGGGAGCTCCGTGGGGGCTGC	0.622													A	62677615	G	A	62677615	3	1	170	1	0	0	0	0	1	0	0	0	3376	1144	40	1	428	1	CHRM1	11	62677615	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	378989	62677615	72328901	76	92913											
TSKU	25987	broad.mit.edu	37	chr11	76507252	76507252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggaaccggctccatGccgtgcccaacctccgagac	11	17	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:76507252G>A	uc001oxt.2	+	2	764	c.592G>A	c.(592-594)GCC>ACC	p.A198T		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	198	LRR 6.					extracellular region					0	Ovarian(111;0.112)					CCGGCTCCATGCCGTGCCCAA	0.677													A	76507252	G	A	76507252	3	1	170	1	0	0	0	0	1	0	0	0	16624	1319	46	2	594	2	TSKU	11	76507252	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	13829637	76507252	58499264	77	92914											
TYR	7299	broad.mit.edu	37	chr11	88911920	88911920	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaacttactcagcccagcaTcattcttctcctcttggcag	5	15	5	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:88911920T>A	uc001pcs.2	+	1	881	c.799T>A	c.(799-801)TCA>ACA	p.S267T		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	267	Lumenal, melanosome (Potential).				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			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAGCCCAGCATCATTCTTCTC	0.458									Oculocutaneous_Albinism				A	88911920	T	A	88911920	3	1	170	1	0	0	0	0	1	0	0	0	16810	1435	50	5	801	5	TYR	11	88911920	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	12404668	88911920	46094596	78	92915											
NOX4	50507	broad.mit.edu	37	chr11	89224395	89224395	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccccttcgttggcgagccagCtcctccaggacacagccatg	10	17	0	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:89224395C>G	uc001pct.2	-	1	259	c.20G>C	c.(19-21)AGC>ACC	p.S7T	NOX4_uc009yvr.2_5'Flank|NOX4_uc001pcu.2_5'UTR|NOX4_uc001pcw.2_Missense_Mutation_p.S7T|NOX4_uc001pcx.2_Missense_Mutation_p.S7T|NOX4_uc001pcv.2_Missense_Mutation_p.S7T|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_5'UTR|NOX4_uc009yvp.2_Missense_Mutation_p.S7T|NOX4_uc010rtv.1_Intron|NOX4_uc009yvq.2_Intron|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	7	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGCGAGCCAGCTCCTCCAGGA	0.652													G	89224395	C	G	89224395	3	3	170	1	0	0	0	0	1	0	0	0	10558	797	28	5	1788	5	NOX4	11	89224395	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	312475	89224395	45782121	79	92916											
PGR	5241	broad.mit.edu	37	chr11	100920727	100920729	+	In_Frame_Del	DEL	CTC	CTC	-													ctaacttgaagcttgacaaaCtcctgtgggatctgccacat							TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:100920726_100920728ACTC>A	uc001pgh.2	-	5	3163_3165	c.2420_2422GAGT>T	c.(2419-2424)gagttt>gTtt	p.807_808EF>V	PGR_uc001pgg.2_In_Frame_Del_p.188_189EF>V|PGR_uc001pgi.2_In_Frame_Del_p.705_706EF>V|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	807	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)	AGCTTGACAAACTCCTGTGGGAT	0.374													-	100920729	CTC	-	100920727	7	5	170	1	0	1	0	1	0	0	0	0	11805	564	20	0	392	0	PGR	11	100920727	In_Frame_Del	DEL	CTC	TCGA-CG-4440-01A-01D-1158-08	11696332	100920727	34085789	80	92917											
UBE4A	9354	broad.mit.edu	37	chr11	118239372	118239372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctagcccagatgacTcggataatagcgtgtcagag	11	11	1	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:118239372T>G	uc001psw.2	+	3	277	c.148T>G	c.(148-150)TCG>GCG	p.S50A	UBE4A_uc001psv.2_Missense_Mutation_p.S50A	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	50					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		CCCAGATGACTCGGATAATAG	0.428													G	118239372	T	G	118239372	3	3	170	1	0	0	0	0	1	0	0	0	16879	1551	54	5	154	5	UBE4A	11	118239372	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	17318645	118239372	16767144	81	92918											
SORL1	6653	broad.mit.edu	37	chr11	121420786	121420786	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgtgggttctacttacagGagaacgagagggtatgtatc	13	7	1	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:121420786G>A	uc001pxx.2	+	15	2249	c.2169G>A	c.(2167-2169)AGG>AGA	p.R723R		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	723	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		CTACTTACAGGAGAACGAGAG	0.507													A	121420786	G	A	121420786	2	1	170	1	0	0	0	0	0	0	0	1	14934	1165	41	4		4	SORL1	11	121420786	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08	3181414	121420786	13585730	82	92919											
OR8G2	26492	broad.mit.edu	37	chr11	124095819	124095819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctatgttgccatctgcaGccccttgctgtacaatgtca	8	14	2	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr11:124095819G>T	uc010saf.1	+	1	422	c.422G>T	c.(421-423)AGC>ATC	p.S141I		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	141						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCCATCTGCAGCCCCTTGCTG	0.468													T	124095819	G	T	124095819	3	4	170	1	0	0	0	0	1	0	0	0	11235	971	34	5	424	5	OR8G2	11	124095819	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	2675033	124095819	10910697	83	92920											
KCNA5	3741	broad.mit.edu	37	chr12	5154190	5154190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccccaccagcctcccGcgcccgcccctggggccaac	11	24	0	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:5154190G>A	uc001qni.2	+	1	1106	c.877G>A	c.(877-879)GCG>ACG	p.A293T		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	293						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCAGCCTCCCGCGCCCGCCCC	0.687													A	5154190	G	A	5154190	3	1	170	1	0	0	0	0	1	0	0	0	8006	1087	38	1	879	1	KCNA5	12	5154190	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08		5154190	128697705	84	92921											
CLEC4E	26253	broad.mit.edu	37	chr12	8688703	8688703	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacctcagagactttgtcaaAggtgtgccgtccacccattg	9	12	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:8688703A>T	uc001quo.1	-	5	636	c.471T>A	c.(469-471)CCT>CCA	p.P157P		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	157	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					ACTTTGTCAAAGGTGTGCCGT	0.443													T	8688703	A	T	8688703	2	4	170	1	0	0	0	0	0	0	0	1	3515	59	3	5		5	CLEC4E	12	8688703	Silent	SNP	A	TCGA-CG-4440-01A-01D-1158-08	3534513	8688703	125163192	85	92922											
PRB4	5545	broad.mit.edu	37	chr12	11461181	11461181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgaatcctagattactgggGaggctgttgtccctgggcag	14	8	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:11461181G>T	uc001qzf.1	-	3	770	c.736C>A	c.(736-738)CCC>ACC	p.P246T	PRB4_uc001qzt.2_Missense_Mutation_p.P246T	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	309						extracellular region				ovary(1)	1						GATTACTGGGGAGGCTGTTGT	0.473										HNSCC(22;0.051)			T	11461181	G	T	11461181	3	4	170	1	0	0	0	0	1	0	0	0	12445	1174	41	5	11	5	PRB4	12	11461181	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	2772478	11461181	122390714	86	92923											
SLCO1C1	53919	broad.mit.edu	37	chr12	20874876	20874876	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaccaagatcccaaagtaGagaggattctaattcttcct	6	9	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:20874876G>A	uc001rej.3	+	9	1269	c.914G>A	c.(913-915)AGA>AAA	p.R305K	SLCO1C1_uc010sii.1_Missense_Mutation_p.R305K|SLCO1C1_uc010sij.1_Missense_Mutation_p.R256K|SLCO1C1_uc009zip.2_Missense_Mutation_p.R139K|SLCO1C1_uc001rei.2_Missense_Mutation_p.R305K|SLCO1C1_uc010sik.1_Missense_Mutation_p.R187K	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	305	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					TCCCAAAGTAGAGAGGATTCT	0.403													A	20874876	G	A	20874876	3	1	170	1	0	0	0	0	1	0	0	0	14725	942	33	4	940	4	SLCO1C1	12	20874876	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	9413695	20874876	112977019	87	92924											
PDZRN4	29951	broad.mit.edu	37	chr12	41966380	41966380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctgggaagtgttgaacTtcagtacaatgagagcctcg	11	9	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:41966380T>G	uc010skn.1	+	10	1270	c.1202T>G	c.(1201-1203)CTT>CGT	p.L401R	PDZRN4_uc001rmq.3_Missense_Mutation_p.L342R|PDZRN4_uc009zjz.2_Missense_Mutation_p.L340R|PDZRN4_uc001rmr.2_Missense_Mutation_p.L227R	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	600							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGTGTTGAACTTCAGTACAAT	0.507													G	41966380	T	G	41966380	3	3	170	1	0	0	0	0	1	0	0	0	11710	1609	56	5	1910	5	PDZRN4	12	41966380	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	21091504	41966380	91885515	88	92925											
IRAK3	11213	broad.mit.edu	37	chr12	66605310	66605311	+	Missense_Mutation	DNP	GA	GA	TT													agacttcctaattggagaagGagagatttttgaggtataca							TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:66605310_66605311GA>TT	uc001sth.2	+	5	623_624	c.521_522GA>TT	c.(520-522)GGA>GTT	p.G174V	IRAK3_uc010ssy.1_Missense_Mutation_p.G113V	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	174	ATP (By similarity).|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			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		ATTGGAGAAGGAGAGATTTTTG	0.342													TT	66605311	GA	TT	66605310	3	4	170	1	0	0	0	0	1	0	0	0	7824	1174	41	5	539	5	IRAK3	12	66605310	Missense_Mutation	DNP	GA	TCGA-CG-4440-01A-01D-1158-08	24638930	66605310	67246585	89	92926											
NAV3	89795	broad.mit.edu	37	chr12	78582033	78582033	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcttatttaggaccaAaaatctcaggcatatttgat	6	6	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:78582033A>C	uc001syp.2	+	32	5969	c.5796A>C	c.(5794-5796)CAA>CAC	p.Q1932H	NAV3_uc001syo.2_Missense_Mutation_p.Q1910H|NAV3_uc010sub.1_Missense_Mutation_p.Q1389H|NAV3_uc009zsf.2_Missense_Mutation_p.Q741H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1932						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTTAGGACCAAAAATCTCAGG	0.308										HNSCC(70;0.22)			C	78582033	A	C	78582033	3	2	170	1	0	0	0	0	1	0	0	0	10185	11	1	5	5852	5	NAV3	12	78582033	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	11976723	78582033	55269862	90	92927											
SART3	9733	broad.mit.edu	37	chr12	108920075	108920075	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccacaggcctcgaagagtGgcctgagcttcgtgtccggc	13	15	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:108920075G>C	uc001tmz.1	-	16	2406	c.2171C>G	c.(2170-2172)CCA>CGA	p.P724R	SART3_uc001tmy.1_Missense_Mutation_p.P250R|SART3_uc009zux.1_Missense_Mutation_p.P336R|SART3_uc010swx.1_Missense_Mutation_p.P688R|SART3_uc010swy.1_Missense_Mutation_p.P610R|SART3_uc010swz.1_Silent_p.A722A	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	724	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CTCGAAGAGTGGCCTGAGCTT	0.567									Porokeratosis				C	108920075	G	C	108920075	3	2	170	1	0	0	0	0	1	0	0	0	13847	1348	47	5	736	5	SART3	12	108920075	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	30338042	108920075	24931820	91	92928											
USP30	84749	broad.mit.edu	37	chr12	109523552	109523552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacactttgtcacttaccGacggtccccaccttctgcca	7	16	2	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:109523552G>A	uc010sxi.1	+	13	1474	c.1370G>A	c.(1369-1371)CGA>CAA	p.R457Q	USP30_uc001tnu.3_Missense_Mutation_p.R426Q|USP30_uc001tnw.3_Missense_Mutation_p.R174Q	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	457	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						GTCACTTACCGACGGTCCCCA	0.562													A	109523552	G	A	109523552	3	1	170	1	0	0	0	0	1	0	0	0	17058	1058	37	1	1420	1	USP30	12	109523552	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	603477	109523552	24328343	92	92929											
FZD10	11211	broad.mit.edu	37	chr12	130648388	130648388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggccagctctatgtcatcCaggagggactggagagcacc	14	12	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr12:130648388C>A	uc001uii.2	+	1	1357	c.901C>A	c.(901-903)CAG>AAG	p.Q301K	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	301	Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		CTATGTCATCCAGGAGGGACT	0.647													A	130648388	C	A	130648388	3	1	170	1	0	0	0	0	1	0	0	0	6129	595	21	5	903	5	FZD10	12	130648388	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	21124836	130648388	3203507	93	92930											
KBTBD6	89890	broad.mit.edu	37	chr13	41705329	41705329	+	Frame_Shift_Del	DEL	A	A	-													taatagggtctcgcccccccAaaatgtagatatagccattg							TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:41705329delA	uc001uxu.1	-	1	1608	c.1319delT	c.(1318-1320)TTGfs	p.L440fs	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Frame_Shift_Del_p.L374fs|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	440	Kelch 2.						protein binding			ovary(1)|skin(1)	2		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)		TCGCCCCCCCAAAATGTAGAT	0.478													-	41705329	A	-	41705329	7	5	170	1	0	1	0	1	0	0	0	0	7997	131	5	0	709	0	KBTBD6	13	41705329	Frame_Shift_Del	DEL	A	TCGA-CG-4440-01A-01D-1158-08		41705329	73464549	94	92931											
ZC3H13	23091	broad.mit.edu	37	chr13	46616346	46616346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcgtttctggggctcagTgtccacgtcttggcgcttgt	12	10	3	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:46616346T>C	uc010tfw.1	-	3	298	c.292A>G	c.(292-294)ACT>GCT	p.T98A	ZC3H13_uc001vas.1_Missense_Mutation_p.T98A|ZC3H13_uc001vat.1_Missense_Mutation_p.T98A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	98							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TGGGGCTCAGTGTCCACGTCT	0.368													C	46616346	T	C	46616346	3	2	170	1	0	0	0	0	1	0	0	0	17562	1696	59	3	4458	3	ZC3H13	13	46616346	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	4911017	46616346	68553532	95	92932											
WDFY2	115825	broad.mit.edu	37	chr13	52330495	52330495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaagtgtgggaaggccGtctgtggcaagtgcagctcc	16	11	1	0	rs140912157		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:52330495G>A	uc001vfp.2	+	10	1301	c.961G>A	c.(961-963)GTC>ATC	p.V321I		NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	321	FYVE-type.						metal ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TGGGAAGGCCGTCTGTGGCAA	0.597													A	52330495	G	A	52330495	3	1	170	1	0	0	0	0	1	0	0	0	17266	1145	40	1	999	1	WDFY2	13	52330495	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	5714149	52330495	62839383	96	92933											
GPC6	10082	broad.mit.edu	37	chr13	93879869	93879869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctaccaggagatcgcaGgtaagcgcgggcgcgctgca	14	14	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr13:93879869G>A	uc001vlt.2	+	1	792	c.160G>A	c.(160-162)GGG>AGG	p.G54R	GPC6_uc010tig.1_Missense_Mutation_p.G54R	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	54						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	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)				GGAGATCGCAGGTAAGCGCGG	0.711											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	93879869	G	A	93879869	3	1	170	1	0	0	0	0	1	0	0	0	6602	1014	35	4	162	4	GPC6	13	93879869	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	41549374	93879869	21290009	97	92934											
OR4K1	79544	broad.mit.edu	37	chr14	20404608	20404608	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttatttctatatatggccTtttagcagacttcctgtgga	7	7	1	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:20404608T>G	uc001vwj.1	+	1	783	c.783T>G	c.(781-783)CCT>CCG	p.P261P		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATATGGCCTTTTAGCAGAC	0.423													G	20404608	T	G	20404608	2	3	170	1	0	0	0	0	0	0	0	1	11067	1596	56	5		5	OR4K1	14	20404608	Silent	SNP	T	TCGA-CG-4440-01A-01D-1158-08		20404608	86944932	98	92935											
ARID4A	5926	broad.mit.edu	37	chr14	58820474	58820474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgaaagtaaaatatggacGagggaagactcagaaaattt	11	3	1	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:58820474G>A	uc001xdp.2	+	17	2008	c.1754G>A	c.(1753-1755)CGA>CAA	p.R585Q	ARID4A_uc001xdo.2_Missense_Mutation_p.R585Q|ARID4A_uc001xdq.2_Missense_Mutation_p.R585Q|ARID4A_uc010apg.1_Missense_Mutation_p.R263Q	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	585					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						AAATATGGACGAGGGAAGACT	0.393													A	58820474	G	A	58820474	3	1	170	1	0	0	0	0	1	0	0	0	919	1058	37	1	1816	1	ARID4A	14	58820474	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	38415866	58820474	48529066	99	92936											
SIPA1L1	26037	broad.mit.edu	37	chr14	72139213	72139213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctgaggcagggcagtcGcctggtggagatctgcaagg	19	8	1	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:72139213G>A	uc001xms.2	+	9	3326	c.2978G>A	c.(2977-2979)CGC>CAC	p.R993H	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R993H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R993H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R993H|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R468H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	993	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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGGGCAGTCGCCTGGTGGAG	0.582													A	72139213	G	A	72139213	3	1	170	1	0	0	0	0	1	0	0	0	14329	1087	38	1	3008	1	SIPA1L1	14	72139213	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	13318739	72139213	35210327	100	92937											
SERPINA3	12	broad.mit.edu	37	chr14	95081025	95081025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactgagcatctccaccGccttggccttcctgtctctg	7	19	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:95081025G>A	uc001ydp.2	+	2	326	c.247G>A	c.(247-249)GCC>ACC	p.A83T	SERPINA3_uc001ydo.3_Missense_Mutation_p.A108T|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.A83T|SERPINA3_uc001yds.2_Missense_Mutation_p.A83T|SERPINA3_uc010avg.2_Missense_Mutation_p.A83T	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	83					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			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CATCTCCACCGCCTTGGCCTT	0.532													A	95081025	G	A	95081025	3	1	170	1	0	0	0	0	1	0	0	0	14090	1087	38	1	249	1	SERPINA3	14	95081025	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	22941812	95081025	12268515	101	92938											
AHNAK2	113146	broad.mit.edu	37	chr14	105405265	105405265	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgtttgaatctctgacGtggggatctctgattcccgc	12	9	2	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:105405265G>C	uc010axc.1	-	7	16643	c.16523C>G	c.(16522-16524)ACG>AGG	p.T5508R	AHNAK2_uc001ypx.2_Missense_Mutation_p.T5408R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5508						nucleus				ovary(1)	1		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)			AATCTCTGACGTGGGGATCTC	0.458													C	105405265	G	C	105405265	3	2	170	1	0	0	0	0	1	0	0	0	415	1145	40	5	868	5	AHNAK2	14	105405265	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	10324240	105405265	1944275	102	92939											
AHNAK2	113146	broad.mit.edu	37	chr14	105410061	105410061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaggtccagcttggggccCttgatgtctatttcagggcc	12	10	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr14:105410061C>A	uc010axc.1	-	7	11847	c.11727G>T	c.(11725-11727)AAG>AAT	p.K3909N	AHNAK2_uc001ypx.2_Missense_Mutation_p.K3809N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3909						nucleus				ovary(1)	1		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)			GCTTGGGGCCCTTGATGTCTA	0.597													A	105410061	C	A	105410061	3	1	170	1	0	0	0	0	1	0	0	0	415	680	24	5	5664	5	AHNAK2	14	105410061	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	4796	105410061	1939479	103	92940											
FBN1	2200	broad.mit.edu	37	chr15	48748847	48748847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttaccttcacaaaccaaCaacttgtcattatagaagaa	3	11	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr15:48748847C>A	uc001zwx.1	-	44	5737	c.5409G>T	c.(5407-5409)TTG>TTT	p.L1803F	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1803	EGF-like 29; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACAAACCAACAACTTGTCAT	0.433													A	48748847	C	A	48748847	3	1	170	1	0	0	0	0	1	0	0	0	5702	477	17	5	3298	5	FBN1	15	48748847	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08		48748847	53782545	104	92941											
FBN1	2200	broad.mit.edu	37	chr15	48773939	48773939	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttttcacaggtcccacTtaggcagatatttggattca	9	9	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr15:48773939T>G	uc001zwx.1	-	32	4205	c.3877A>C	c.(3877-3879)AGT>CGT	p.S1293R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1293	EGF-like 21; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACTTAGGCAGATA	0.388													G	48773939	T	G	48773939	3	3	170	1	0	0	0	0	1	0	0	0	5702	1609	56	5	4878	5	FBN1	15	48773939	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	25092	48773939	53757453	105	92942											
PDE8A	5151	broad.mit.edu	37	chr15	85681096	85681096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatactggaaaggactggacGaaatgaagctgcggaacctc	12	8	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr15:85681096G>A	uc002blh.2	+	22	2641	c.2452G>A	c.(2452-2454)GAA>AAA	p.E818K	PDE8A_uc002bli.2_Missense_Mutation_p.E772K|PDE8A_uc010bnc.2_Missense_Mutation_p.E571K|PDE8A_uc010bnd.2_Missense_Mutation_p.E571K|PDE8A_uc002blj.2_Missense_Mutation_p.E438K|PDE8A_uc002blk.2_Missense_Mutation_p.E438K|PDE8A_uc002bll.2_Missense_Mutation_p.E170K	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	818					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			AGGACTGGACGAAATGAAGCT	0.473													A	85681096	G	A	85681096	3	1	170	1	0	0	0	0	1	0	0	0	11653	1059	37	1	2538	1	PDE8A	15	85681096	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	36907157	85681096	16850296	106	92943											
ZNF263	10127	broad.mit.edu	37	chr16	3338488	3338488	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtcaggaggtcccaggcacCcaggtgggacaaggaggaaa	16	9	1	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr16:3338488C>G	uc002cuq.2	+	5	1136	c.804C>G	c.(802-804)ACC>ACG	p.T268T	ZNF263_uc010uww.1_Intron|ZNF263_uc002cur.2_5'Flank	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	268	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						TCCCAGGCACCCAGGTGGGAC	0.542													G	3338488	C	G	3338488	2	3	170	1	0	0	0	0	0	0	0	1	17800	610	22	5		5	ZNF263	16	3338488	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08		3338488	87016265	107	92944											
SPNS2	124976	broad.mit.edu	37	chr17	4439624	4439624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcctgagcctgggctacGcgctcatgctctgccctttc	10	15	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:4439624G>A	uc002fxx.2	+	11	1724	c.1510G>A	c.(1510-1512)GCG>ACG	p.A504T	SPNS2_uc002fxy.2_5'Flank	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	504					lipid transport|transmembrane transport	integral to membrane					0						CCTGGGCTACGCGCTCATGCT	0.632													A	4439624	G	A	4439624	3	1	170	1	0	0	0	0	1	0	0	0	15074	1087	38	1	1552	1	SPNS2	17	4439624	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08		4439624	76755586	108	92945											
TP53	7157	broad.mit.edu	37	chr17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-													cggttcatgccgcccatgcaGgaactgttacacatgtagtt							TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:7577558delG	uc002gim.2	-	7	917	c.723delC	c.(721-723)TCCfs	p.S241fs	TP53_uc002gig.1_Frame_Shift_Del_p.S241fs|TP53_uc002gih.2_Frame_Shift_Del_p.S241fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.S109fs|TP53_uc010cng.1_Frame_Shift_Del_p.S109fs|TP53_uc002gii.1_Frame_Shift_Del_p.S109fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S241fs|TP53_uc010cni.1_Frame_Shift_Del_p.S241fs|TP53_uc002gij.2_Frame_Shift_Del_p.S241fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.S148fs|TP53_uc002gio.2_Frame_Shift_Del_p.S109fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	241	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(73)|p.S241C(24)|p.C242fs*5(9)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.S241A(6)|p.S241del(5)|p.S241T(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CGCCCATGCAGGAACTGTTAC	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7577558	G	-	7577558	7	5	170	1	0	1	0	1	0	0	0	0	16378	987	35	0	567	0	TP53	17	7577558	Frame_Shift_Del	DEL	G	TCGA-CG-4440-01A-01D-1158-08	3137934	7577558	73617652	109	92946											
NF1	4763	broad.mit.edu	37	chr17	29550553	29550553	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtggttgcgggaaatattgAtctgcaggaataaatttctt	11	4	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29550553A>T	uc002hgg.2	+	16	2146	c.1813A>T	c.(1813-1815)ATC>TTC	p.I605F	NF1_uc002hgh.2_Missense_Mutation_p.I605F|NF1_uc010csn.1_Missense_Mutation_p.I465F|NF1_uc002hgi.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	605					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.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		GGAAATATTGATCTGCAGGAA	0.313			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)			T	29550553	A	T	29550553	3	4	170	1	0	0	0	0	1	0	0	0	10356	333	12	5	1936	5	NF1	17	29550553	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	21972995	29550553	51644657	110	92947											
EVI2B	2124	broad.mit.edu	37	chr17	29632425	29632425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcaggtgatattgattgtCcagaaaaagtgtcgctgaat	12	5	0	4			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29632425C>T	uc002hgk.2	-	2	358	c.203G>A	c.(202-204)GGA>GAA	p.G68E	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.G83E	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	68	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TATTGATTGTCCAGAAAAAGT	0.428													T	29632425	C	T	29632425	3	4	170	1	0	0	0	0	1	0	0	0	5288	855	30	4	1147	4	EVI2B	17	29632425	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	81872	29632425	51562785	111	92948			1	46		3	3	119	C		1.351509e-07
EVI2B	2124	broad.mit.edu	37	chr17	29632469	29632469	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggttgacccaaaggattCcctgttgtgttttgagaatt	11	6	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29632469C>T	uc002hgk.2	-	2	314	c.159G>A	c.(157-159)GGG>GGA	p.G53G	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Silent_p.G68G	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	53	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CCAAAGGATTCCCTGTTGTGT	0.418													T	29632469	C	T	29632469	2	4	170	1	0	0	0	0	0	0	0	1	5288	842	30	4		4	EVI2B	17	29632469	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08	44	29632469	51562741	112	92949			1	46		3	3	119	C		1.351509e-07
EVI2B	2124	broad.mit.edu	37	chr17	29632543	29632543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtaggctgtgactgcttctCtgttgtaattgtctctgtct	11	8	3	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:29632543C>T	uc002hgk.2	-	2	240	c.85G>A	c.(85-87)GAG>AAG	p.E29K	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.E44K	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	29	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GACTGCTTCTCTGTTGTAATT	0.358													T	29632543	C	T	29632543	3	4	170	1	0	0	0	0	1	0	0	0	5288	922	32	4	1265	4	EVI2B	17	29632543	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	74	29632543	51562667	113	92950			1	46		3	3	119	C		1.351509e-07
SLFN11	91607	broad.mit.edu	37	chr17	33690427	33690427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaggtctcagatctacGgtataatgaagaactgaggc	11	8	2	5			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:33690427G>A	uc010ctp.2	-	4	842	c.400C>T	c.(400-402)CGT>TGT	p.R134C	SLFN11_uc010ctq.2_Missense_Mutation_p.R134C|SLFN11_uc002hjh.3_Missense_Mutation_p.R134C|SLFN11_uc002hjg.3_Missense_Mutation_p.R134C|SLFN11_uc010ctr.2_Missense_Mutation_p.R134C	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	134						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAGATCTACGGTATAATGAA	0.453													A	33690427	G	A	33690427	3	1	170	1	0	0	0	0	1	0	0	0	14733	1116	39	1	2321	1	SLFN11	17	33690427	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	4057884	33690427	47504783	114	92951											
C17orf53	78995	broad.mit.edu	37	chr17	42226115	42226115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtggcaaagctcatttacCcagacctcgaactcccaact	6	14	1	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:42226115C>A	uc002ifi.1	+	3	1129	c.944C>A	c.(943-945)CCC>CAC	p.P315H	C17orf53_uc010czq.1_Missense_Mutation_p.P315H|C17orf53_uc002ifj.1_Missense_Mutation_p.P315H|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	315											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTCATTTACCCAGACCTCGA	0.502													A	42226115	C	A	42226115	3	1	170	1	0	0	0	0	1	0	0	0	1862	623	22	5	954	5	C17orf53	17	42226115	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	8535688	42226115	38969095	115	92952											
NFE2L1	4779	broad.mit.edu	37	chr17	46128984	46128984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcagtggagacttaacCaaagaggttagtggacctgt	12	8	1	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:46128984C>T	uc002imz.3	+	2	1155	c.504C>T	c.(502-504)ACC>ACT	p.T168T	NFE2L1_uc002ina.3_Silent_p.T168T|NFE2L1_uc002inb.3_Silent_p.T168T|NFE2L1_uc002inc.1_Silent_p.T168T	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	168	Asp/Glu-rich (acidic).				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			skin(1)	1						GAGACTTAACCAAAGAGGTTA	0.587													T	46128984	C	T	46128984	2	4	170	1	0	0	0	0	0	0	0	1	10367	581	21	4		4	NFE2L1	17	46128984	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08	3902869	46128984	35066226	116	92953											
USH1G	124590	broad.mit.edu	37	chr17	72916295	72916295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctgcatcttggtcttGcccctggccgtgccgtgcag	11	14	4	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr17:72916295G>A	uc002jme.1	-	2	819	c.636C>T	c.(634-636)GGC>GGT	p.G212G	USH1G_uc010wro.1_Silent_p.G109G	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	212					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTTGGTCTTGCCCCTGGCCG	0.692													A	72916295	G	A	72916295	2	1	170	1	0	0	0	0	0	0	0	1	17032	1306	46	2		2	USH1G	17	72916295	Silent	SNP	G	TCGA-CG-4440-01A-01D-1158-08	26787311	72916295	8278915	117	92954											
OR2Z1	284383	broad.mit.edu	37	chr19	8841852	8841852	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctgggtggtaggtgtgctCaacgcctccatccagacctc	11	14	1	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:8841852C>G	uc010xkg.1	+	1	462	c.462C>G	c.(460-462)CTC>CTG	p.L154L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TAGGTGTGCTCAACGCCTCCA	0.547													G	8841852	C	G	8841852	2	3	170	1	0	0	0	0	0	0	0	1	11036	813	29	5		5	OR2Z1	19	8841852	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08		8841852	50287131	118	92955											
OR7G3	390883	broad.mit.edu	37	chr19	9237253	9237253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcagtgggtgacagatgGccacaaatcgatcataggcc	11	11	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:9237253G>A	uc010xkl.1	-	1	374	c.374C>T	c.(373-375)GCC>GTC	p.A125V		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTGACAGATGGCCACAAATCG	0.478													A	9237253	G	A	9237253	3	1	170	1	0	0	0	0	1	0	0	0	11224	1203	42	2	567	2	OR7G3	19	9237253	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	395401	9237253	49891730	119	92956											
GCDH	2639	broad.mit.edu	37	chr19	13004403	13004403	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagtgtccagtcctccctCgtcatgcaccctatctatgc	7	15	2	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:13004403C>T	uc002mvq.2	+	6	518	c.441C>T	c.(439-441)CTC>CTT	p.L147L	GCDH_uc010xms.1_Silent_p.L114L|GCDH_uc002mvp.2_Silent_p.L147L|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Silent_p.L103L	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	147					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AGTCCTCCCTCGTCATGCACC	0.632													T	13004403	C	T	13004403	2	4	170	1	0	0	0	0	0	0	0	1	6287	871	31	1		1	GCDH	19	13004403	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08	3767150	13004403	46124580	120	92957											
EMR3	84658	broad.mit.edu	37	chr19	14762009	14762009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtaatcgcttgagtTtcaatagctggtaagaaaag	10	5	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:14762009T>G	uc002mzi.3	-	7	733	c.585A>C	c.(583-585)GAA>GAC	p.E195D	EMR3_uc010dzp.2_Missense_Mutation_p.E143D|EMR3_uc010xnv.1_Missense_Mutation_p.E69D	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	195	Extracellular (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						TCGCTTGAGTTTCAATAGCTG	0.333													G	14762009	T	G	14762009	3	3	170	1	0	0	0	0	1	0	0	0	5106	1838	64	5	1413	5	EMR3	19	14762009	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	1757606	14762009	44366974	121	92958											
TM6SF2	53345	broad.mit.edu	37	chr19	19381866	19381866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cataggagacctcgccatggGacaagctgtagaccgccacg	12	13	0	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:19381866G>A	uc002nmd.1	-	2	214	c.164C>T	c.(163-165)TCC>TTC	p.S55F	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	55						integral to membrane					0			Epithelial(12;0.0151)			CTCGCCATGGGACAAGCTGTA	0.597													A	19381866	G	A	19381866	3	1	170	1	0	0	0	0	1	0	0	0	15970	1174	41	4	1005	4	TM6SF2	19	19381866	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	4619857	19381866	39747117	122	92959											
NOVA2	4858	broad.mit.edu	37	chr19	46443906	46443906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacatccgcggggctggCgtacggagagccggtggggt	19	11	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:46443906C>T	uc002pdv.2	-	4	742	c.694G>A	c.(694-696)GCC>ACC	p.A232T		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	232	Ala-rich.					nucleus	RNA binding				0		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)		GCGGGGCTGGCGTACGGAGAG	0.731													T	46443906	C	T	46443906	3	4	170	1	0	0	0	0	1	0	0	0	10555	768	27	1	788	1	NOVA2	19	46443906	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	27062040	46443906	12685077	123	92960											
IGFL4	444882	broad.mit.edu	37	chr19	46543157	46543157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accccagaacagtctagatgAggtcagatcttgacacaggg	11	10	3	5			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:46543157A>C	uc002pdy.1	-	4	422	c.368T>G	c.(367-369)CTC>CGC	p.L123R		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	123						extracellular region					0		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)		AGTCTAGATGAGGTCAGATCT	0.423													C	46543157	A	C	46543157	3	2	170	1	0	0	0	0	1	0	0	0	7589	304	11	5	10	5	IGFL4	19	46543157	Missense_Mutation	SNP	A	TCGA-CG-4440-01A-01D-1158-08	99251	46543157	12585826	124	92961											
ZNF320	162967	broad.mit.edu	37	chr19	53367144	53367144	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatacaaaataacatgctgGgcatggtggcacgtgcctgg	13	8	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:53367144G>C	uc010eqh.1	-	3		c.533C>G			ZNF320_uc010eqi.1_RNA			A2RRD8	ZN320_HUMAN	Homo sapiens full length insert cDNA clone ZD42C02.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		taacatgctgggcatggtggc	0.134													C	53367144	G	C	53367144	1	2	170	0	1	0	0	0	0	0	0	0	17836	1247	43	5		5	ZNF320	19	53367144	RNA	SNP	G	TCGA-CG-4440-01A-01D-1158-08	6823987	53367144	5761839	125	92962											
FIZ1	84922	broad.mit.edu	37	chr19	56104081	56104081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgaagatcttcttgccgCggccggagccagacgggggt	16	12	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:56104081C>T	uc002qli.3	-	3	1316	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	FIZ1_uc002qlj.3_Missense_Mutation_p.R409H	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTTCTTGCCGCGGCCGGAGCC	0.721													T	56104081	C	T	56104081	3	4	170	1	0	0	0	0	1	0	0	0	5900	768	27	1	268	1	FIZ1	19	56104081	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	2736937	56104081	3024902	126	92963											
NLRP8	126205	broad.mit.edu	37	chr19	56465888	56465888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaatacggcggtataaatCgaatgtgatggaaaagtttt	10	3	0	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr19:56465888C>T	uc002qmh.2	+	3	535	c.464C>T	c.(463-465)TCG>TTG	p.S155L	NLRP8_uc010etg.2_Missense_Mutation_p.S155L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	155						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGTATAAATCGAATGTGATG	0.418													T	56465888	C	T	56465888	3	4	170	1	0	0	0	0	1	0	0	0	10483	893	31	1	474	1	NLRP8	19	56465888	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	361807	56465888	2663095	127	92964											
TGM2	7052	broad.mit.edu	37	chr20	36767991	36767991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcaaagacaaagggcgcatCgtacttggtgctcaggtcgc	13	11	1	1	rs41274716		TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:36767991C>T	uc002xhr.2	-	9	1265	c.1165G>A	c.(1165-1167)GAT>AAT	p.D389N	TGM2_uc010zvx.1_Missense_Mutation_p.D308N|TGM2_uc010zvy.1_Missense_Mutation_p.D329N|TGM2_uc002xhs.1_Missense_Mutation_p.D365N|TGM2_uc002xht.2_Missense_Mutation_p.D389N	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	389					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AAGGGCGCATCGTACTTGGTG	0.582													T	36767991	C	T	36767991	3	4	170	1	0	0	0	0	1	0	0	0	15827	884	31	1	950	1	TGM2	20	36767991	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08		36767991	26257529	128	92965											
TSHZ2	128553	broad.mit.edu	37	chr20	51872284	51872284	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctgtttgagaacagcgatCagcccattgacctgaccaag	9	12	1	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:51872284C>A	uc002xwo.2	+	2	3243	c.2287C>A	c.(2287-2289)CAG>AAG	p.Q763K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	763					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GAACAGCGATCAGCCCATTGA	0.542													A	51872284	C	A	51872284	3	1	170	1	0	0	0	0	1	0	0	0	16621	827	29	5	2293	5	TSHZ2	20	51872284	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	15104293	51872284	11153236	129	92966											
CDH26	60437	broad.mit.edu	37	chr20	58547035	58547035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgttcaataatatgtctTataacatgtcactaatgtat	5	6	3	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:58547035T>C	uc002ybe.2	+	4	550	c.250T>C	c.(250-252)TAT>CAT	p.Y84H	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	84	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TAATATGTCTTATAACATGTC	0.358													C	58547035	T	C	58547035	3	2	170	1	0	0	0	0	1	0	0	0	3110	1754	61	3	264	3	CDH26	20	58547035	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08	6674751	58547035	4478485	130	92967											
LAMA5	3911	broad.mit.edu	37	chr20	60899589	60899589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagagacctttgacgtcccGatagaagccgggggcacatt	13	10	0	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr20:60899589G>A	uc002ycq.2	-	42	5618	c.5551C>T	c.(5551-5553)CGG>TGG	p.R1851W		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1851	Laminin EGF-like 16; second part.				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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGACGTCCCGATAGAAGCCG	0.622													A	60899589	G	A	60899589	3	1	170	1	0	0	0	0	1	0	0	0	8609	1057	37	1	5692	1	LAMA5	20	60899589	Missense_Mutation	SNP	G	TCGA-CG-4440-01A-01D-1158-08	2352554	60899589	2125931	131	92968											
DSCAM	1826	broad.mit.edu	37	chr21	41561117	41561117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcatctcctttttctgcCcctgcgtggccagggtagta	10	13	3	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr21:41561117C>A	uc002yyq.1	-	12	2857	c.2405G>T	c.(2404-2406)GGG>GTG	p.G802V	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	802	Ig-like C2-type 9.|Extracellular (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTTTTCTGCCCCTGCGTGGC	0.493													A	41561117	C	A	41561117	3	1	170	1	0	0	0	0	1	0	0	0	4768	623	22	5	3721	5	DSCAM	21	41561117	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08		41561117	6568778	132	92969											
C22orf31	25770	broad.mit.edu	37	chr22	29456825	29456825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctcgtctcacattgaTtgggtgctagaattataagg	13	6	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr22:29456825T>G	uc003aej.1	-	2	137	c.10A>C	c.(10-12)ATC>CTC	p.I4L		NM_015370	NP_056185	O95567	CV031_HUMAN	hypothetical protein LOC25770	4											0						CTCACATTGATTGGGTGCTAG	0.418													G	29456825	T	G	29456825	3	3	170	1	0	0	0	0	1	0	0	0	2143	1493	52	5	870	5	C22orf31	22	29456825	Missense_Mutation	SNP	T	TCGA-CG-4440-01A-01D-1158-08		29456825	21847741	133	92970											
C22orf28	51493	broad.mit.edu	37	chr22	32797882	32797882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacagttgatgtcaaaccCgacaccacctacaaaataga	5	13	1	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chr22:32797882C>T	uc003amm.2	-	5	480	c.349G>A	c.(349-351)GGG>AGG	p.G117R	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	117					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						ATGTCAAACCCGACACCACCT	0.433													T	32797882	C	T	32797882	3	4	170	1	0	0	0	0	1	0	0	0	2140	652	23	1	1200	1	C22orf28	22	32797882	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	3341057	32797882	18506684	134	92971											
WAS	7454	broad.mit.edu	37	chrX	48542701	48542701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagttgttcagctgtaCctggcgctgccccctggagc	12	14	1	0			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:48542701C>T	uc004dkm.3	+	2	219	c.162C>T	c.(160-162)TAC>TAT	p.Y54Y		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	54	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				TTCAGCTGTACCTGGCGCTGC	0.592			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				T	48542701	C	T	48542701	2	4	170	1	0	0	0	0	0	0	0	1	17248	518	18	4		4	WAS	23	48542701	Silent	SNP	C	TCGA-CG-4440-01A-01D-1158-08		48542701	106727859	135	92972											
PHF8	23133	broad.mit.edu	37	chrX	54020053	54020053	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctttgctttctggaaagagCctgtcttcagtgcctgatga	10	10	3	3			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:54020053C>G	uc004dsu.2	-	13	1788	c.1715G>C	c.(1714-1716)GGC>GCC	p.G572A	PHF8_uc004dst.2_Missense_Mutation_p.G536A|PHF8_uc004dsv.2_Missense_Mutation_p.G402A|PHF8_uc004dsw.2_Intron|PHF8_uc004dsx.2_Missense_Mutation_p.G300A|PHF8_uc004dsy.2_Missense_Mutation_p.G536A	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	572					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CTGGAAAGAGCCTGTCTTCAG	0.537													G	54020053	C	G	54020053	3	3	170	1	0	0	0	0	1	0	0	0	11840	739	26	5	1677	5	PHF8	23	54020053	Missense_Mutation	SNP	C	TCGA-CG-4440-01A-01D-1158-08	5477352	54020053	101250507	136	92973											
KIAA1210	57481	broad.mit.edu	37	chrX	118223450	118223450	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtgcgagaaagggacAttcctggcagtcttattggt	13	7	1	1			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:118223450A>G	uc004era.3	-	11	1743	c.1743T>C	c.(1741-1743)AAT>AAC	p.N581N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	581										ovary(4)|skin(1)	5						AGAAAGGGACATTCCTGGCAG	0.488													G	118223450	A	G	118223450	2	3	170	1	0	0	0	0	0	0	0	1	8214	214	8	3		3	KIAA1210	23	118223450	Silent	SNP	A	TCGA-CG-4440-01A-01D-1158-08	64203397	118223450	37047110	137	92974											
ATP11C	286410	broad.mit.edu	37	chrX	138880884	138880884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcctttcagcaagagAttttcaggtcccaaagacct	8	11	2	2			TCGA-CG-4440-01A-01D-1158-08	TCGA-CG-4440-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa09359-fa06-45ba-8f72-6ebaad4741d5	dabcae8d-c2d2-4c9d-aa90-04012910d357	g.chrX:138880884A>G	uc004faz.2	-	9	837	c.738T>C	c.(736-738)AAT>AAC	p.N246N	ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Silent_p.N246N	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	246	Cytoplasmic (Potential).				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			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TCAGCAAGAGATTTTCAGGTC	0.373													G	138880884	A	G	138880884	2	3	170	1	0	0	0	0	0	0	0	1	1121	330	12	3		3	ATP11C	23	138880884	Silent	SNP	A	TCGA-CG-4440-01A-01D-1158-08	20657434	138880884	16389676	138	92975											
TNFRSF9	3604	broad.mit.edu	37	chr1	7980916	7980916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagttcacatcctccttcTtcttcttctggaaatcggca	5	14	5	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:7980916T>G	uc001aot.2	-	8	875	c.747A>C	c.(745-747)GAA>GAC	p.E249D		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	249	Cytoplasmic (Potential).|Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	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)		ATCCTCCTTCTTCTTCTTCTG	0.378													G	7980916	T	G	7980916	3	3	171	1	0	0	0	0	1	0	0	0	16297	1606	56	5	24	5	TNFRSF9	1	7980916	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08		7980916	241269705	1	92976											
SDHB	6390	broad.mit.edu	37	chr1	17349180	17349180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcagcttggccaggcGctcctctgtgaagtcatctc	11	14	3	1	rs138996609	by1000genomes	TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:17349180G>A	uc001bae.2	-	7	839	c.688C>T	c.(688-690)CGC>TGC	p.R230C		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	230			R -> C (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)	1		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)	TTGGCCAGGCGCTCCTCTGTG	0.562			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				A	17349180	G	A	17349180	3	1	171	1	0	0	0	0	1	0	0	0	13965	1087	38	1	162	1	SDHB	1	17349180	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	9368264	17349180	231901441	2	92977											
GRIK3	2899	broad.mit.edu	37	chr1	37356689	37356689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgtccgcatactcgaAgattcctcctgtgaaagatg	12	11	0	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:37356689A>C	uc001caz.2	-	2	259	c.124T>G	c.(124-126)TTC>GTC	p.F42V	GRIK3_uc001cba.1_Missense_Mutation_p.F42V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	42	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCATACTCGAAGATTCCTCCT	0.502													C	37356689	A	C	37356689	3	2	171	1	0	0	0	0	1	0	0	0	6775	72	3	5	2695	5	GRIK3	1	37356689	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	20007509	37356689	211893932	3	92978											
MTF1	4520	broad.mit.edu	37	chr1	38323055	38323055	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagataatgtgctgcacataAccctgggacattgcttcatg	10	9	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:38323055A>C	uc001cce.1	-	2	417	c.276T>G	c.(274-276)GGT>GGG	p.G92G	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	92						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTGCACATAACCCTGGGACA	0.473													C	38323055	A	C	38323055	2	2	171	1	0	0	0	0	0	0	0	1	9922	30	2	5		5	MTF1	1	38323055	Silent	SNP	A	TCGA-CG-4441-01A-01D-1800-08	966366	38323055	210927566	4	92979											
POMGNT1	55624	broad.mit.edu	37	chr1	46662434	46662439	+	In_Frame_Del	DEL	CTGCGA	CTGCGA	-													ccactgccacatatactttgCtgcgacttgaatacacctct							TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:46662433_46662438GCTGCGA>G	uc001cpg.3	-	3	970_975	c.319_324TCGCAGC>C	c.(319-324)cgcagc>C	p.RS107del	POMGNT1_uc010olx.2_In_Frame_Del_p.RS85del|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_5'UTR|POMGNT1_uc001cpe.3_In_Frame_Del_p.RS107del|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Intron	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	107					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)					CATATACTTTGCTGCGACTTGAATAC	0.621													-	46662439	CTGCGA	-	46662434	7	5	171	1	0	1	0	1	0	0	0	0	12243	797	28	0	1735	0	POMGNT1	1	46662434	In_Frame_Del	DEL	CTGCGA	TCGA-CG-4441-01A-01D-1800-08	8339379	46662434	202588187	5	92980											
DHCR24	1718	broad.mit.edu	37	chr1	55337221	55337221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgatgcggatctcagcGgccaccaggaaacccagcgt	14	12	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:55337221G>A	uc001cyc.1	-	5	807	c.678C>T	c.(676-678)GCC>GCT	p.A226A	DHCR24_uc010ooj.1_Silent_p.A88A|DHCR24_uc010ook.1_Silent_p.A185A	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	226	FAD-binding PCMH-type.				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			pancreas(1)	1						GGATCTCAGCGGCCACCAGGA	0.567													A	55337221	G	A	55337221	2	1	171	1	0	0	0	0	0	0	0	1	4476	1103	39	1		1	DHCR24	1	55337221	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	8674787	55337221	193913400	6	92981											
C8B	732	broad.mit.edu	37	chr1	57420479	57420479	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtccccattgcaaagaAgtctgcggtttacacacctt	7	12	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:57420479A>C	uc001cyp.2	-	4	480	c.413T>G	c.(412-414)CTT>CGT	p.L138R	C8B_uc010oon.1_Missense_Mutation_p.L76R|C8B_uc010ooo.1_Missense_Mutation_p.L86R	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	138	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ATTGCAAAGAAGTCTGCGGTT	0.423													C	57420479	A	C	57420479	3	2	171	1	0	0	0	0	1	0	0	0	2417	72	3	5	1398	5	C8B	1	57420479	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	2083258	57420479	191830142	7	92982											
C8B	732	broad.mit.edu	37	chr1	57425760	57425760	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagctcacaatcaatgggcAtcagggtaacatccacactc	7	13	3	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:57425760A>T	uc001cyp.2	-	2	249	c.182T>A	c.(181-183)ATG>AAG	p.M61K	C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.M9K	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	61					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ATCAATGGGCATCAGGGTAAC	0.488													T	57425760	A	T	57425760	3	4	171	1	0	0	0	0	1	0	0	0	2417	217	8	5	1637	5	C8B	1	57425760	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	5281	57425760	191824861	8	92983											
C1orf173	127254	broad.mit.edu	37	chr1	75037488	75037488	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgcttctgtctccagagtGcactctttgtcctcttcctc	6	15	4	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:75037488G>T	uc001dgg.2	-	14	4125	c.3906C>A	c.(3904-3906)TGC>TGA	p.C1302*		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1302	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCTCCAGAGTGCACTCTTTGT	0.542													T	75037488	G	T	75037488	4	4	171	1	0	0	0	0	0	1	0	0	2014	1311	46	5	690	5	C1orf173	1	75037488	Nonsense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	17611728	75037488	174213133	9	92984											
HFM1	164045	broad.mit.edu	37	chr1	91859732	91859732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaggaacactcttctcagGtgctatctcagtgccaatgt	8	11	4	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:91859732G>T	uc001doa.3	-	4	512	c.412C>A	c.(412-414)CCT>ACT	p.P138T	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.P138T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	138							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		CTCTTCTCAGGTGCTATCTCA	0.333													T	91859732	G	T	91859732	3	4	171	1	0	0	0	0	1	0	0	0	7083	1261	44	5	4039	5	HFM1	1	91859732	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	16822244	91859732	157390889	10	92985											
OR6N1	128372	broad.mit.edu	37	chr1	158736261	158736261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcagctgtatagccaAgctctgagaaggagagaatg	15	6	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:158736261A>C	uc010piq.1	-	1	212	c.212T>G	c.(211-213)CTT>CGT	p.L71R		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGTATAGCCAAGCTCTGAGAA	0.488													C	158736261	A	C	158736261	3	2	171	1	0	0	0	0	1	0	0	0	11206	72	3	5	729	5	OR6N1	1	158736261	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	66876529	158736261	90514360	11	92986											
ATP1A2	477	broad.mit.edu	37	chr1	160097392	160097392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccggacggtgatgggcCgcatagctactctcgcctca	13	13	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:160097392C>T	uc001fvc.2	+	8	931	c.799C>T	c.(799-801)CGC>TGC	p.R267C	ATP1A2_uc001fvb.2_Missense_Mutation_p.R267C|ATP1A2_uc010piz.1_Missense_Mutation_p.R112C|ATP1A2_uc001fvd.2_Missense_Mutation_p.R3C|ATP1A2_uc009wtg.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	267	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			GGTGATGGGCCGCATAGCTAC	0.592													T	160097392	C	T	160097392	3	4	171	1	0	0	0	0	1	0	0	0	1129	652	23	1	829	1	ATP1A2	1	160097392	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	1361131	160097392	89153229	12	92987											
C1orf111	284680	broad.mit.edu	37	chr1	162344042	162344042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcttgaggaagtccagGgtggggtacatgcggcagca	17	8	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:162344042G>A	uc001gbx.2	-	3	646	c.582C>T	c.(580-582)ACC>ACT	p.T194T		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	194										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GGAAGTCCAGGGTGGGGTACA	0.582													A	162344042	G	A	162344042	2	1	171	1	0	0	0	0	0	0	0	1	1984	1219	43	4		4	C1orf111	1	162344042	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	2246650	162344042	86906579	13	92988											
FMO2	2327	broad.mit.edu	37	chr1	171154909	171154909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcctaatttctctgaaGtgctgtgtggatgagggact	14	6	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:171154909G>A	uc001ghk.1	+	2	174	c.57G>A	c.(55-57)AAG>AAA	p.K19K	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	19					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTCTCTGAAGTGCTGTGTGG	0.463													A	171154909	G	A	171154909	2	1	171	1	0	0	0	0	0	0	0	1	5955	1020	36	4		4	FMO2	1	171154909	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	8810867	171154909	78095712	14	92989											
FAM5B	57795	broad.mit.edu	37	chr1	177245501	177245501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgatgctgacatccagGccatggaggacagcctgctg	13	13	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:177245501G>A	uc001glf.2	+	6	1255	c.943G>A	c.(943-945)GCC>ACC	p.A315T	FAM5B_uc010pna.1_Missense_Mutation_p.A65T|FAM5B_uc001glg.2_Missense_Mutation_p.A210T	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	315						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGACATCCAGGCCATGGAGGA	0.572													A	177245501	G	A	177245501	3	1	171	1	0	0	0	0	1	0	0	0	5593	1203	42	2	961	2	FAM5B	1	177245501	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	6090592	177245501	72005120	15	92990											
CFH	3075	broad.mit.edu	37	chr1	196716376	196716376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatatcgtctttcatcacGttctcacacattgcgaacaa	7	11	4	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:196716376G>A	uc001gtj.3	+	22	3869	c.3629G>A	c.(3628-3630)CGT>CAT	p.R1210H		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1210	Sushi 20.		R -> C (in CFH deficiency).		complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CTTTCATCACGTTCTCACACA	0.388													A	196716376	G	A	196716376	3	1	171	1	0	0	0	0	1	0	0	0	3283	1145	40	1	3733	1	CFH	1	196716376	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	19470875	196716376	52534245	16	92991											
OR2L13	284521	broad.mit.edu	37	chr1	248263095	248263095	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatgagtaaaatgatgTgtgtgaagatgattggaggc	14	4	0	5			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:248263095T>A	uc001ids.2	+	3	755	c.418T>A	c.(418-420)TGT>AGT	p.C140S		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	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)			TAAAATGATGTGTGTGAAGAT	0.498													A	248263095	T	A	248263095	3	1	171	1	0	0	0	0	1	0	0	0	11006	1696	59	5	420	5	OR2L13	1	248263095	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	51546719	248263095	987526	17	92992											
OR2T12	127064	broad.mit.edu	37	chr1	248457972	248457972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaggtttacacacgtcccCagccaccgtttcagggcttc	8	14	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr1:248457972C>T	uc010pzj.1	-	1	909	c.909G>A	c.(907-909)CTG>CTA	p.L303L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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)			CACACGTCCCCAGCCACCGTT	0.438													T	248457972	C	T	248457972	2	4	171	1	0	0	0	0	0	0	0	1	11019	581	21	4		4	OR2T12	1	248457972	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	194877	248457972	792649	18	92993											
RAB10	10890	broad.mit.edu	37	chr2	26350094	26350094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtacctaaaggaaaaGgagaacaggtaaaaatctga	11	4	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr2:26350094G>A	uc002rgv.2	+	4	1158	c.409G>A	c.(409-411)GGA>AGA	p.G137R		NM_016131	NP_057215	P61026	RAB10_HUMAN	ras-related GTP-binding protein RAB10	137					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAAGGAAAAGGAGAACAGGT	0.318													A	26350094	G	A	26350094	3	1	171	1	0	0	0	0	1	0	0	0	12890	1001	35	4	423	4	RAB10	2	26350094	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08		26350094	216849279	19	92994											
VAX2	25806	broad.mit.edu	37	chr2	71160232	71160232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggccccgctcctggaTctgcctgccggctacgaact	10	18	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr2:71160232T>A	uc002shh.2	+	3	803	c.771T>A	c.(769-771)GAT>GAA	p.D257E	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	257					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCTCCTGGATCTGCCTGCCG	0.647													A	71160232	T	A	71160232	3	1	171	1	0	0	0	0	1	0	0	0	17132	1432	50	5	781	5	VAX2	2	71160232	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	44810138	71160232	172039141	20	92995											
BAZ2B	29994	broad.mit.edu	37	chr2	160245918	160245918	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcctttgccatttctaattCtaatcttcgctgctctagtt	4	11	4	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr2:160245918C>G	uc002uao.2	-	21	3506	c.3154G>C	c.(3154-3156)GAA>CAA	p.E1052Q	BAZ2B_uc002uap.2_Missense_Mutation_p.E1016Q	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1052	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						ATTTCTAATTCTAATCTTCGC	0.338													G	160245918	C	G	160245918	3	3	171	1	0	0	0	0	1	0	0	0	1332	922	32	5	3420	5	BAZ2B	2	160245918	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	89085686	160245918	82953455	21	92996											
SCN7A	6332	broad.mit.edu	37	chr2	167301492	167301492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagtataatgggcatatcTtcttggatttttcaagttct	7	7	4	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr2:167301492T>G	uc002udu.1	-	12	1533	c.1406A>C	c.(1405-1407)AAG>ACG	p.K469T	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	469					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TGGGCATATCTTCTTGGATTT	0.229													G	167301492	T	G	167301492	3	3	171	1	0	0	0	0	1	0	0	0	13923	1609	56	5	3698	5	SCN7A	2	167301492	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	7055574	167301492	75897881	22	92997											
TTN	7273	broad.mit.edu	37	chr2	179594026	179594026	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataactgacctttcagggcaActctagtactgcatgagcag	9	10	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr2:179594026A>C	uc010zfg.1	-	61	15349	c.15125T>G	c.(15124-15126)GTT>GGT	p.V5042G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1703G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5969							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGGGCAACTCTAGTACT	0.403													C	179594026	A	C	179594026	3	2	171	1	0	0	0	0	1	0	0	0	16732	43	2	5	85868	5	TTN	2	179594026	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	12292534	179594026	63605347	23	92998											
THAP4	51078	broad.mit.edu	37	chr2	242573185	242573185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgggtttccactcgaggaCggtgaccaacctgcagctcc	11	14	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr2:242573185C>T	uc002wbt.2	-	2	610	c.387G>A	c.(385-387)CCG>CCA	p.P129P		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	129							DNA binding|metal ion binding				0		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)		CACTCGAGGACGGTGACCAAC	0.657													T	242573185	C	T	242573185	2	4	171	1	0	0	0	0	0	0	0	1	15843	523	19	1		1	THAP4	2	242573185	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	62979159	242573185	626188	24	92999											
CNTN4	152330	broad.mit.edu	37	chr3	2908444	2908444	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctttcagagctgagtTatgcctggatcttcaatgaa	8	8	3	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr3:2908444T>A	uc003bpc.2	+	7	684	c.463T>A	c.(463-465)TAT>AAT	p.Y155N	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.Y155N	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	155	Ig-like C2-type 2.				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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAGCTGAGTTATGCCTGGAT	0.353													A	2908444	T	A	2908444	3	1	171	1	0	0	0	0	1	0	0	0	3643	1754	61	5	481	5	CNTN4	3	2908444	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08		2908444	195113986	25	93000											
TTLL3	26140	broad.mit.edu	37	chr3	9868870	9868870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaccgtgtggttctaccGcgacagctatatccgctttt	8	12	1	0	rs35644696	byFrequency	TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr3:9868870G>A	uc003btg.2	+	9	1280	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.R322H|TTLL3_uc003btf.3_Intron|TTLL3_uc010hco.1_Missense_Mutation_p.R291H|TTLL3_uc003bth.3_Missense_Mutation_p.R143H|TTLL3_uc011atj.1_Missense_Mutation_p.R291H|TTLL3_uc003btj.3_Missense_Mutation_p.R143H|TTLL3_uc003bti.3_Missense_Mutation_p.R143H|TTLL3_uc003btk.2_Missense_Mutation_p.R158H	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	355	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TGGTTCTACCGCGACAGCTAT	0.393													A	9868870	G	A	9868870	3	1	171	1	0	0	0	0	1	0	0	0	16725	1087	38	1	1094	1	TTLL3	3	9868870	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	6960426	9868870	188153560	26	93001											
CCR3	1232	broad.mit.edu	37	chr3	46307574	46307574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgttggagagaggttcCggaagtacctgcgccacttc	12	11	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr3:46307574C>T	uc003cpg.1	+	4	1468	c.925C>T	c.(925-927)CGG>TGG	p.R309W	CCR3_uc003cpi.1_Missense_Mutation_p.R309W|CCR3_uc003cpj.1_Missense_Mutation_p.R309W|CCR3_uc003cpk.1_Missense_Mutation_p.R330W|CCR3_uc010hjb.1_Missense_Mutation_p.R327W|CCR3_uc003cpl.1_Missense_Mutation_p.R342W	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	309	Cytoplasmic (Potential).				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				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGAGAGGTTCCGGAAGTACCT	0.547													T	46307574	C	T	46307574	3	4	171	1	0	0	0	0	1	0	0	0	2942	643	23	1	994	1	CCR3	3	46307574	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	36438704	46307574	151714856	27	93002											
BSN	8927	broad.mit.edu	37	chr3	49694711	49694711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagtctgggactgagccCtgtgtggtcaggaggattgc	16	8	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr3:49694711C>T	uc003cxe.3	+	5	7836	c.7722C>T	c.(7720-7722)CCC>CCT	p.P2574P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2574					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACTGAGCCCTGTGTGGTCA	0.642													T	49694711	C	T	49694711	2	4	171	1	0	0	0	0	0	0	0	1	1530	668	24	4		4	BSN	3	49694711	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	3387137	49694711	148327719	28	93003											
ACPL2	92370	broad.mit.edu	37	chr3	141011729	141011729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagctctttgccctctaCtctgctcatgatgtcactct	7	13	6	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr3:141011729C>T	uc003etu.2	+	8	1424	c.1125C>T	c.(1123-1125)TAC>TAT	p.Y375Y	ACPL2_uc003etv.2_Silent_p.Y375Y|ACPL2_uc011bna.1_Silent_p.Y337Y|ACPL2_uc011bnb.1_Silent_p.Y358Y	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	375						extracellular region	acid phosphatase activity			skin(1)	1						TTGCCCTCTACTCTGCTCATG	0.562													T	141011729	C	T	141011729	2	4	171	1	0	0	0	0	0	0	0	1	166	576	20	4		4	ACPL2	3	141011729	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	91317018	141011729	57010701	29	93004											
NAALADL2	254827	broad.mit.edu	37	chr3	174814828	174814828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcacccaaaggaaggttcCagagacttcaagaagaatct	8	10	3	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr3:174814828C>A	uc003fit.2	+	2	379	c.292C>A	c.(292-294)CAG>AAG	p.Q98K	NAALADL2_uc003fiu.1_Missense_Mutation_p.Q91K	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	98	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		AGGAAGGTTCCAGAGACTTCA	0.438													A	174814828	C	A	174814828	3	1	171	1	0	0	0	0	1	0	0	0	10130	595	21	5	298	5	NAALADL2	3	174814828	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	33803099	174814828	23207602	30	93005											
RGS12	6002	broad.mit.edu	37	chr4	3318625	3318625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccattgagcttccttccaCgagctccaacctggagtccg	8	16	0	1	rs149618433		TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr4:3318625C>T	uc003ggw.2	+	2	1632	c.728C>T	c.(727-729)ACG>ATG	p.T243M	RGS12_uc003ggu.2_Missense_Mutation_p.T243M|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.T243M|RGS12_uc003ggx.1_Missense_Mutation_p.T243M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	243	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTCCTTCCACGAGCTCCAAC	0.532													T	3318625	C	T	3318625	3	4	171	1	0	0	0	0	1	0	0	0	13295	536	19	1	730	1	RGS12	4	3318625	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08		3318625	187835651	31	93006											
SLIT2	9353	broad.mit.edu	37	chr4	20535276	20535276	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaaatgaaatacttcttacGagtaatcgtttggaaaatgt	8	4	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr4:20535276G>A	uc003gpr.1	+	18	1974	c.1770G>A	c.(1768-1770)ACG>ACA	p.T590T	SLIT2_uc003gps.1_Silent_p.T582T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	590	LRR 14.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						TACTTCTTACGAGTAATCGTT	0.348													A	20535276	G	A	20535276	2	1	171	1	0	0	0	0	0	0	0	1	14740	1045	37	1		1	SLIT2	4	20535276	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	17216651	20535276	170619000	32	93007											
UGT2B10	7365	broad.mit.edu	37	chr4	69879852	69879852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaccatattctccagagctCtgtacaaactcctccatttg	5	14	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr4:69879852C>G	uc011cao.1	-	6	913	c.777G>C	c.(775-777)CAG>CAC	p.Q259H	UGT2B10_uc011can.1_Missense_Mutation_p.Q175H			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	296					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						CTCCAGAGCTCTGTACAAACT	0.418													G	69879852	C	G	69879852	3	3	171	1	0	0	0	0	1	0	0	0	16953	912	32	5	2325	5	UGT2B10	4	69879852	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	49344576	69879852	121274424	33	93008											
PTPN13	5783	broad.mit.edu	37	chr4	87610307	87610307	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcattttcctacgtgaaAcacttggtaaaactggttct	6	11	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr4:87610307A>C	uc003hpz.2	+	5	990	c.510A>C	c.(508-510)AAA>AAC	p.K170N	PTPN13_uc003hpy.2_Missense_Mutation_p.K170N|PTPN13_uc003hqa.2_Missense_Mutation_p.K170N|PTPN13_uc003hqb.2_Missense_Mutation_p.K170N	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	170	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTACGTGAAACACTTGGTAA	0.373													C	87610307	A	C	87610307	3	2	171	1	0	0	0	0	1	0	0	0	12782	40	2	5	524	5	PTPN13	4	87610307	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	17730455	87610307	103543969	34	93009											
ANP32C	23520	broad.mit.edu	37	chr4	165118489	165118489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacgttttctccgtagtcGttcaggttggttacctcgca	9	11	2	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr4:165118489G>A	uc011cjk.1	-	1	375	c.375C>T	c.(373-375)AAC>AAT	p.N125N	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	125	LRR 4.										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CTCCGTAGTCGTTCAGGTTGG	0.458													A	165118489	G	A	165118489	2	1	171	1	0	0	0	0	0	0	0	1	707	1136	40	1		1	ANP32C	4	165118489	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	77508182	165118489	26035787	35	93010											
TLL1	7092	broad.mit.edu	37	chr4	166924594	166924594	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggacctcaggcaatctctatCggcaagaactgtgataaatt	9	9	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr4:166924594C>G	uc003irh.1	+	6	1331	c.684C>G	c.(682-684)ATC>ATG	p.I228M	TLL1_uc011cjn.1_Missense_Mutation_p.I228M|TLL1_uc011cjo.1_Missense_Mutation_p.I52M	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	228	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAATCTCTATCGGCAAGAACT	0.458													G	166924594	C	G	166924594	3	3	171	1	0	0	0	0	1	0	0	0	15942	874	31	5	706	5	TLL1	4	166924594	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	1806105	166924594	24229682	36	93011											
FAT1	2195	broad.mit.edu	37	chr4	187516942	187516942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcttttcctctagagGcttcttggaaagacagggat	13	7	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr4:187516942G>A	uc003izf.2	-	26	13227	c.13039C>T	c.(13039-13041)CCT>TCT	p.P4347S	FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.P238S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4347	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCCTCTAGAGGCTTCTTGGAA	0.493										HNSCC(5;0.00058)			A	187516942	G	A	187516942	3	1	171	1	0	0	0	0	1	0	0	0	5689	1203	42	2	735	2	FAT1	4	187516942	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	20592348	187516942	3637334	37	93012											
TAS2R1	50834	broad.mit.edu	37	chr5	9629933	9629933	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgatgaattctatgaagAagataacaatcacattaacg	6	6	2	5			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:9629933A>C	uc003jem.1	-	1	531	c.212T>G	c.(211-213)TTC>TGC	p.F71C		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	71	Helical; Name=2; (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						TTCTATGAAGAAGATAACAAT	0.378													C	9629933	A	C	9629933	3	2	171	1	0	0	0	0	1	0	0	0	15562	246	9	5	691	5	TAS2R1	5	9629933	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08		9629933	171285327	38	93013											
DNAH5	1767	broad.mit.edu	37	chr5	13786317	13786317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaccatggcatctgcaaAgaacaccatgtccatgccgg	10	12	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:13786317A>G	uc003jfd.2	-	52	8833	c.8791T>C	c.(8791-8793)TTT>CTT	p.F2931L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2931	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCATCTGCAAAGAACACCATG	0.488									Kartagener_syndrome				G	13786317	A	G	13786317	3	3	171	1	0	0	0	0	1	0	0	0	4604	72	3	3	5195	3	DNAH5	5	13786317	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	4156384	13786317	167128943	39	93014											
LIFR	3977	broad.mit.edu	37	chr5	38496666	38496667	+	Frame_Shift_Ins	INS	-	-	T													cgatacattgtaggaaagtaINStttttccattagcttcatta							TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:38496666_38496667insT	uc010ive.1	-	13	2034_2035	c.1702_1703insA	c.(1702-1704)ATAfs	p.I568fs	LIFR_uc003jli.2_Frame_Shift_Ins_p.I568fs	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	568	Extracellular (Potential).|Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					GTAGGAAAGTATTTTTCCATTA	0.381			T	PLAG1	salivary adenoma								T	38496667	-	T	38496666	7	5	171	1	0	1	1	0	0	0	0	0	8780	449	16	0	1622	0	LIFR	5	38496666	Frame_Shift_Ins	INS	-	TCGA-CG-4441-01A-01D-1800-08	24710349	38496666	142418594	40	93015	449	2									
LIFR	3977	broad.mit.edu	37	chr5	38496667	38496668	+	Frame_Shift_Ins	INS	-	-	T													gatacattgtaggaaagtatINSttttccattagcttcattaa							TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:38496666_38496667A>AT	uc010ive.1	-	12	2034_2035	c.1702_1703T>AT	c.(1702-1704)atafs	p.I568fs	LIFR_uc003jli.2_Frame_Shift_Ins_p.I568fs	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	568	Fibronectin type-III 4.				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)					GTAGGAAAGTATTTTTCCATTA	0.381			T	PLAG1	salivary adenoma								T	38496668	-	T	38496667	7	5	171	1	0	1	1	0	0	0	0	0	8780	1493	52	0	1623	0	LIFR	5	38496667	Frame_Shift_Ins	INS	-	TCGA-CG-4441-01A-01D-1800-08	1	38496667	142418593	41	93016	449	2									
P4HA2	8974	broad.mit.edu	37	chr5	131553527	131553527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctttctctgcataaatcaGgtcagtcatgtgccctgcaa	7	12	5	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:131553527G>T	uc003kwh.2	-	3	661	c.97C>A	c.(97-99)CTG>ATG	p.L33M	P4HA2_uc003kwg.2_Missense_Mutation_p.L33M|P4HA2_uc003kwi.2_Missense_Mutation_p.L33M|P4HA2_uc003kwk.2_Missense_Mutation_p.L33M|P4HA2_uc003kwl.2_Missense_Mutation_p.L33M|P4HA2_uc003kwj.2_Missense_Mutation_p.L33M	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	33						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				0		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)	GCATAAATCAGGTCAGTCATG	0.498													T	131553527	G	T	131553527	3	4	171	1	0	0	0	0	1	0	0	0	11357	991	35	5	1626	5	P4HA2	5	131553527	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	93056860	131553527	49361733	42	93017											
SEPT8	23176	broad.mit.edu	37	chr5	132101145	132101145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgagtgaccgacttgCtgaccagctggtcggggagg	16	11	0	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:132101145C>T	uc003kxr.2	-	2	345	c.107G>A	c.(106-108)AGC>AAC	p.S36N	SEPT8_uc003kxs.1_Missense_Mutation_p.S36N|SEPT8_uc003kxu.2_Missense_Mutation_p.S36N|SEPT8_uc011cxi.1_Missense_Mutation_p.S36N|SEPT8_uc003kxv.2_Missense_Mutation_p.S36N|SEPT8_uc003kxt.2_5'UTR	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	36					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCGACTTGCTGACCAGCTG	0.607													T	132101145	C	T	132101145	3	4	171	1	0	0	0	0	1	0	0	0	14070	797	28	2	1435	2	SEPT8	5	132101145	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	547618	132101145	48814115	43	93018											
UQCRQ	27089	broad.mit.edu	37	chr5	132203255	132203255	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagaggaagaatccagctgCctatgaaaatgacaaatgag	10	7	0	5			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:132203255C>G	uc003kya.1	+	3	304	c.230C>G	c.(229-231)GCC>GGC	p.A77G	GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	NM_014402	NP_055217	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III	77				KNPAAYENDK -> RIQLPMKMTNEQRIRMTVPCL (in Ref. 1; BAA23321).	respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity				0		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATCCAGCTGCCTATGAAAAT	0.423													G	132203255	C	G	132203255	3	3	171	1	0	0	0	0	1	0	0	0	17021	739	26	5	236	5	UQCRQ	5	132203255	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	102110	132203255	48712005	44	93019											
PCDHA1	56147	broad.mit.edu	37	chr5	140166387	140166387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgctcttctaacgtacaCgctcagcccgagtgattatt	7	12	3	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:140166387C>T	uc003lhb.2	+	1	512	c.512C>T	c.(511-513)ACG>ATG	p.T171M	PCDHA1_uc003lha.2_Missense_Mutation_p.T171M|PCDHA1_uc003lgz.2_Missense_Mutation_p.T171M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	171	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACGTACACGCTCAGCCCG	0.398													T	140166387	C	T	140166387	3	4	171	1	0	0	0	0	1	0	0	0	11519	536	19	1	514	1	PCDHA1	5	140166387	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	7963132	140166387	40748873	45	93020											
PCDHB5	26167	broad.mit.edu	37	chr5	140517197	140517197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggtcgctgctcggtgccCgagggcccctttccagggca	15	15	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:140517197C>T	uc003liq.2	+	1	2398	c.2181C>T	c.(2179-2181)CCC>CCT	p.P727P		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	727	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGTGCCCGAGGGCCCCT	0.667													T	140517197	C	T	140517197	2	4	171	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140517197	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	350810	140517197	40398063	46	93021											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763523	140763523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgactatgacgtctttaAgtagctcaatccctgaagac	8	9	2	4			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:140763523A>G	uc003lka.1	+	1	1057	c.1057A>G	c.(1057-1059)AGT>GGT	p.S353G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.S353G	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	353	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTCTTTAAGTAGCTCAAT	0.433													G	140763523	A	G	140763523	3	3	171	1	0	0	0	0	1	0	0	0	11559	72	3	3	1059	3	PCDHGA7	5	140763523	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	246326	140763523	40151737	47	93022											
PCDHGC5	56097	broad.mit.edu	37	chr5	140799481	140799482	+	Frame_Shift_Ins	INS	-	-	G													ccacaccctctgactcccagINSgctgagatgcagttttacct							TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr5:140799480_140799481A>AG	uc003lkn.2	+	0	2221_2222	c.2054_2055A>AG	c.(2053-2055)cagfs	p.Q685fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Frame_Shift_Ins_p.Q685fs|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	687					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)			TCTGACTCCCAGGCTGAGATGC	0.559													G	140799482	-	G	140799481	7	5	171	1	0	1	1	0	0	0	0	0	11571	991	35	0		0	PCDHGC5	5	140799481	Frame_Shift_Ins	INS	-	TCGA-CG-4441-01A-01D-1800-08	35958	140799481	40115779	48	93023											
AARS2	57505	broad.mit.edu	37	chr6	44270562	44270562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcctgctccccagtgaCggccagcaggcgggtagtgc	16	14	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr6:44270562C>T	uc010jza.1	-	17	2344	c.2341G>A	c.(2341-2343)GTC>ATC	p.V781I	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	781					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	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)	TCCCCAGTGACGGCCAGCAGG	0.627													T	44270562	C	T	44270562	3	4	171	1	0	0	0	0	1	0	0	0	20	536	19	1	640	1	AARS2	6	44270562	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08		44270562	126844505	49	93024											
DDX43	55510	broad.mit.edu	37	chr6	74104733	74104733	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggaggccggcggaggagttGaatcgaacaggtcctgaggg	19	7	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr6:74104733G>C	uc003pgw.2	+	1	449	c.105G>C	c.(103-105)TTG>TTC	p.L35F	OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	35						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						CGGAGGAGTTGAATCGAACAG	0.657													C	74104733	G	C	74104733	3	2	171	1	0	0	0	0	1	0	0	0	4363	1281	45	5	107	5	DDX43	6	74104733	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	29834171	74104733	97010334	50	93025											
FAM184A	79632	broad.mit.edu	37	chr6	119345242	119345242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaattttcctatagtttttCgtaaaattgcttcttgtccc	4	8	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr6:119345242C>T	uc003pyj.2	-	2	1244	c.896G>A	c.(895-897)CGA>CAA	p.R299Q	FAM184A_uc003pyk.3_Missense_Mutation_p.R179Q|FAM184A_uc003pyl.3_Missense_Mutation_p.R179Q	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	299	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						TATAGTTTTTCGTAAAATTGC	0.393													T	119345242	C	T	119345242	3	4	171	1	0	0	0	0	1	0	0	0	5511	884	31	1	2594	1	FAM184A	6	119345242	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	45240509	119345242	51769825	51	93026											
HIVEP2	3097	broad.mit.edu	37	chr6	143081659	143081659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttaaatctccctggtcGtcaaagtcatcttcatcttc	7	11	6	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr6:143081659G>A	uc003qjd.2	-	9	6509	c.5766C>T	c.(5764-5766)GAC>GAT	p.D1922D		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1922	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCCCTGGTCGTCAAAGtcat	0.373													A	143081659	G	A	143081659	2	1	171	1	0	0	0	0	0	0	0	1	7187	1136	40	1		1	HIVEP2	6	143081659	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	23736417	143081659	28033408	52	93027											
TULP4	56995	broad.mit.edu	37	chr6	158919781	158919781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttcggaaaatttccatgGactatattaatttacctgtc	6	7	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr6:158919781G>A	uc003qrf.2	+	12	3308	c.1951G>A	c.(1951-1953)GAC>AAC	p.D651N	TULP4_uc003qrg.2_Missense_Mutation_p.D651N	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	651					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		AATTTCCATGGACTATATTAA	0.433													A	158919781	G	A	158919781	3	1	171	1	0	0	0	0	1	0	0	0	16773	1174	41	4	1997	4	TULP4	6	158919781	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	15838122	158919781	12195286	53	93028											
GNA12	2768	broad.mit.edu	37	chr7	2770956	2770956	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggttccgtctcttcctgtcGaagcactggaccaggtagcg	12	13	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr7:2770956G>A	uc003smu.2	-	4	1169	c.1005C>T	c.(1003-1005)TTC>TTT	p.F335F	GNA12_uc011jwb.1_Silent_p.F318F|GNA12_uc003smt.2_Silent_p.F276F	NM_007353	NP_031379	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein)	335					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TCTTCCTGTCGAAGCACTGGA	0.592													A	2770956	G	A	2770956	2	1	171	1	0	0	0	0	0	0	0	1	6500	1049	37	1		1	GNA12	7	2770956	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08		2770956	156367707	54	93029											
PAPOLB	56903	broad.mit.edu	37	chr7	4900190	4900190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaaatgactgtggatTcacatgtgccagtgtaataa	11	6	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr7:4900190T>C	uc003snk.2	-	1	1436	c.1252A>G	c.(1252-1254)AAT>GAT	p.N418D	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	417					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GACTGTGGATTCACATGTGCC	0.408													C	4900190	T	C	4900190	3	2	171	1	0	0	0	0	1	0	0	0	11430	1783	62	3	665	3	PAPOLB	7	4900190	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	2129234	4900190	154238473	55	93030											
FSCN1	6624	broad.mit.edu	37	chr7	5642914	5642914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgtctgccaatcaggacGaggagaccgaccaggagacc	12	13	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr7:5642914G>A	uc003sou.2	+	2	973	c.859G>A	c.(859-861)GAG>AAG	p.E287K	FSCN1_uc003sov.2_Missense_Mutation_p.E9K|FSCN1_uc003sow.2_Missense_Mutation_p.E9K	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	287					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CAATCAGGACGAGGAGACCGA	0.622													A	5642914	G	A	5642914	3	1	171	1	0	0	0	0	1	0	0	0	6067	1059	37	1	865	1	FSCN1	7	5642914	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	742724	5642914	153495749	56	93031											
BUD31	8896	broad.mit.edu	37	chr7	99015077	99015077	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatattgtattaaagaAggctatgcagacaaaaacct	7	5	0	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr7:99015077A>G	uc003uqf.2	+	5	444	c.243A>G	c.(241-243)GAA>GAG	p.E81E	BUD31_uc011kiu.1_Silent_p.E81E|BUD31_uc011kiv.1_Silent_p.E81E|BUD31_uc003uqg.3_Silent_p.E81E	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	81					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GTATTAAAGAAGGCTATGCAG	0.428													G	99015077	A	G	99015077	2	3	171	1	0	0	0	0	0	0	0	1	1574	69	3	3		3	BUD31	7	99015077	Silent	SNP	A	TCGA-CG-4441-01A-01D-1800-08	93372163	99015077	60123586	57	93032											
MCM7	4176	broad.mit.edu	37	chr7	99694968	99694968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacaggagctgagacttgGccacaccaggatcccccatc	10	14	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr7:99694968G>T	uc003usw.1	-	10	1667	c.1157C>A	c.(1156-1158)GCC>GAC	p.A386D	MCM7_uc003usv.1_Missense_Mutation_p.A210D|MCM7_uc003usx.1_Missense_Mutation_p.A210D	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	386	MCM.|ATP (Potential).				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				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTGAGACTTGGCCACACCAGG	0.537													T	99694968	G	T	99694968	3	4	171	1	0	0	0	0	1	0	0	0	9392	1203	42	5	1026	5	MCM7	7	99694968	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	679891	99694968	59443695	58	93033											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432148	117432148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaagcgggtacagaagCgccaatcaagtcaccatagg	13	9	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr7:117432148C>T	uc003vjf.2	-	4	1194	c.1102G>A	c.(1102-1104)GCT>ACT	p.A368T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	368										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTACAGAAGCGCCAATCAAG	0.527													T	117432148	C	T	117432148	3	4	171	1	0	0	0	0	1	0	0	0	4045	768	27	1	3969	1	CTTNBP2	7	117432148	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	17737180	117432148	41706515	59	93034											
OR2F2	135948	broad.mit.edu	37	chr7	143633227	143633227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagaggtgaagggggcctGgcataaactattagagaaat	13	4	0	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr7:143633227G>A	uc011ktv.1	+	1	902	c.902G>A	c.(901-903)TGG>TAG	p.W301*		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					AAGGGGGCCTGGCATAAACTA	0.418													A	143633227	G	A	143633227	4	1	171	1	0	0	0	0	0	1	0	0	10997	1357	47	4	904	4	OR2F2	7	143633227	Nonsense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	26201079	143633227	15505436	60	93035											
PRKDC	5591	broad.mit.edu	37	chr8	48817430	48817430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaactattacttaccAatatagcttctagtaaggca	5	8	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr8:48817430A>G	uc003xqi.2	-	26	3098	c.3041T>C	c.(3040-3042)TTG>TCG	p.L1014S	PRKDC_uc003xqj.2_Missense_Mutation_p.L1014S|PRKDC_uc011ldh.1_Missense_Mutation_p.L1014S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1014	HEAT 2.				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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATTACTTACCAATATAGCTTC	0.289								NHEJ					G	48817430	A	G	48817430	3	3	171	1	0	0	0	0	1	0	0	0	12521	144	5	3	9588	3	PRKDC	8	48817430	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08		48817430	97546592	61	93036											
MOS	4342	broad.mit.edu	37	chr8	57025798	57025798	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcctttcaggagctcCggggcgcggtgggtgtatgt	15	12	2	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr8:57025798C>A	uc011leb.1	-	1	744	c.744G>T	c.(742-744)CCG>CCT	p.P248P		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	248	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			TCAGGAGCTCCGGGGCGCGGT	0.542													A	57025798	C	A	57025798	2	1	171	1	0	0	0	0	0	0	0	1	9712	639	23	5		5	MOS	8	57025798	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	8208368	57025798	89338224	62	93037											
HRSP12	10247	broad.mit.edu	37	chr8	99118518	99118518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgttagtgaagtcacagcCtgcagctttcagaatttcac	8	11	3	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr8:99118518C>T	uc003yii.1	-	3	302	c.208G>A	c.(208-210)GGC>AGC	p.G70S		NM_005836	NP_005827	P52758	UK114_HUMAN	heat-responsive protein 12	70					regulation of translational termination	nucleus	endonuclease activity			ovary(1)	1	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AAGTCACAGCCTGCAGCTTTC	0.343													T	99118518	C	T	99118518	3	4	171	1	0	0	0	0	1	0	0	0	7360	681	24	4	221	4	HRSP12	8	99118518	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	42092720	99118518	47245504	63	93038											
SLC27A4	10999	broad.mit.edu	37	chr9	131117991	131117991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaactgtgacctggagCgctttgctcaggtcttggag	14	10	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr9:131117991C>T	uc004but.2	+	12	1974	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C	SLC27A4_uc004buu.2_Missense_Mutation_p.R158C	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	564					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						TGACCTGGAGCGCTTTGCTCA	0.642													T	131117991	C	T	131117991	3	4	171	1	0	0	0	0	1	0	0	0	14528	768	27	1	1732	1	SLC27A4	9	131117991	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08		131117991	10095440	64	93039											
C9orf9	11092	broad.mit.edu	37	chr9	135762802	135762802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagctccacagaccggcGggttctgctcatgttcctgg	11	14	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr9:135762802G>A	uc004cbx.1	+	3	302	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	C9orf9_uc004cby.1_Missense_Mutation_p.R64Q|C9orf9_uc004cbz.1_Missense_Mutation_p.R64Q	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Rsb-66 protein	64								p.?(1)			0				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		ACAGACCGGCGGGTTCTGCTC	0.597													A	135762802	G	A	135762802	3	1	171	1	0	0	0	0	1	0	0	0	2504	1116	39	1	197	1	C9orf9	9	135762802	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	4644811	135762802	5450629	65	93040											
REXO4	57109	broad.mit.edu	37	chr9	136272968	136272968	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggacctggagcccaaggAtcttctctgaaagtagtctc	11	11	3	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr9:136272968A>C	uc004cdm.2	-	7	1312	c.1112T>G	c.(1111-1113)ATC>AGC	p.I371S	REXO4_uc011mde.1_Missense_Mutation_p.I234S|REXO4_uc011mdf.1_Missense_Mutation_p.I234S|REXO4_uc004cdn.2_Missense_Mutation_p.I122S|REXO4_uc004cdo.2_Missense_Mutation_p.I199S	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog	371	Exonuclease.					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		GAGCCCAAGGATCTTCTCTGA	0.602													C	136272968	A	C	136272968	3	2	171	1	0	0	0	0	1	0	0	0	13243	333	12	5	164	5	REXO4	9	136272968	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	510166	136272968	4940463	66	93041											
BRD3	8019	broad.mit.edu	37	chr9	136907002	136907002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgctcaccatgggggcCgcgggggcaggcagcgccgg	18	15	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr9:136907002C>T	uc004cew.2	-	8	1475	c.1287G>A	c.(1285-1287)GCG>GCA	p.A429A	BRD3_uc004cex.2_Silent_p.A429A	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	429						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCATGGGGGCCGCGGGGGCAG	0.662			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136907002	C	T	136907002	2	4	171	1	0	0	0	0	0	0	0	1	1503	639	23	1		1	BRD3	9	136907002	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	634034	136907002	4306429	67	93042											
COL5A1	1289	broad.mit.edu	37	chr9	137687154	137687154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatcactgggaagcctgGccccaaggtatgtttttggc	14	10	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr9:137687154G>A	uc004cfe.2	+	34	3174	c.2792G>A	c.(2791-2793)GGC>GAC	p.G931D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	931	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GGGAAGCCTGGCCCCAAGGTA	0.602													A	137687154	G	A	137687154	3	1	171	1	0	0	0	0	1	0	0	0	3696	1203	42	2	2926	2	COL5A1	9	137687154	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	780152	137687154	3526277	68	93043											
CAMK2G	818	broad.mit.edu	37	chr10	75612948	75612948	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctcagaaagtggcacttAcaggtcaaacacgaggtagt	10	10	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr10:75612948A>G	uc001jvv.1	-	4	375	c.251_splice	c.e4+1	p.L84_splice	CAMK2G_uc001jvm.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvo.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvq.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvr.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvp.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvs.1_Splice_Site_p.L92_splice|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Splice_Site_p.L92_splice|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					AGTGGCACTTACAGGTCAAAC	0.522													G	75612948	A	G	75612948	5	3	171	1	0	0	0	0	0	0	1	0	2602	405	14	3	1565	3	CAMK2G	10	75612948	Splice_Site	SNP	A	TCGA-CG-4441-01A-01D-1800-08		75612948	59921799	69	93044											
HIF1AN	55662	broad.mit.edu	37	chr10	102304792	102304792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatgcatcttattccctcCggatcagttcgagtgcctct	8	13	3	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr10:102304792C>T	uc001krj.3	+	4	737	c.662C>T	c.(661-663)CCG>CTG	p.P221L		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	hypoxia-inducible factor 1, alpha subunit	221	JmjC.|Interaction with HIF1A.|Interaction with VHL.				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				0		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TTATTCCCTCCGGATCAGTTC	0.463													T	102304792	C	T	102304792	3	4	171	1	0	0	0	0	1	0	0	0	7104	652	23	1	676	1	HIF1AN	10	102304792	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	26691844	102304792	33229955	70	93045											
LZTS2	84445	broad.mit.edu	37	chr10	102762419	102762419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccctgtcccggggggCcagctcctccccgccaccac	12	22	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr10:102762419C>T	uc001ksj.2	+	2	193	c.124C>T	c.(124-126)CCA>TCA	p.P42S	LZTS2_uc010qpw.1_Missense_Mutation_p.P42S|LZTS2_uc001ksk.2_Missense_Mutation_p.P42S|LZTS2_uc001ksl.2_Missense_Mutation_p.P42S|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	42	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TCCCGGGGGGCCAGCTCCTCC	0.682													T	102762419	C	T	102762419	3	4	171	1	0	0	0	0	1	0	0	0	9139	739	26	2	126	2	LZTS2	10	102762419	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	457627	102762419	32772328	71	93046											
SMC3	9126	broad.mit.edu	37	chr10	112341745	112341745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagattacatactctagaGgaagaaaaggaagaactagc	11	5	1	4			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr10:112341745G>T	uc001kze.2	+	9	738	c.612G>T	c.(610-612)GAG>GAT	p.E204D		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	204	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATACTCTAGAGGAAGAAAAGG	0.388													T	112341745	G	T	112341745	3	4	171	1	0	0	0	0	1	0	0	0	14784	991	35	5	646	5	SMC3	10	112341745	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	9579326	112341745	23193002	72	93047											
OR51I1	390063	broad.mit.edu	37	chr11	5461820	5461820	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcctgggatttatggaAgaacttgagaatccctttgc	11	8	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:5461820A>C	uc010qze.1	-	1	925	c.925T>G	c.(925-927)TTC>GTC	p.F309V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTTATGGAAGAACTTGAGA	0.453													C	5461820	A	C	5461820	3	2	171	1	0	0	0	0	1	0	0	0	11100	72	3	5	23	5	OR51I1	11	5461820	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08		5461820	129544696	73	93048											
APBB1	322	broad.mit.edu	37	chr11	6416887	6416887	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgctgggaggcaggaGgtggaggcctgggaacgggc	25	6	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:6416887G>C	uc001mdb.1	-	14	2110	c.2010C>G	c.(2008-2010)ACC>ACG	p.T670T	APBB1_uc001mcz.1_Silent_p.T289T|APBB1_uc001mdd.3_Silent_p.T448T|APBB1_uc001mda.2_Silent_p.T195T|APBB1_uc001mdc.1_Silent_p.T668T|APBB1_uc001mcy.1_Missense_Mutation_p.P108R	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	670	PID 2.				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(2)	2		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)		GGAGGCAGGAGGTGGAGGCCT	0.662													C	6416887	G	C	6416887	2	2	171	1	0	0	0	0	0	0	0	1	759	987	35	5		5	APBB1	11	6416887	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	955067	6416887	128589629	74	93049											
HPX	3263	broad.mit.edu	37	chr11	6452560	6452560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatggatgaggtacaagcCgggaccattggcggaacatg	14	9	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:6452560C>T	uc001mdg.2	-	10	1331	c.1270G>A	c.(1270-1272)GGC>AGC	p.G424S	HPX_uc001mdf.2_Missense_Mutation_p.G170S|HPX_uc009yfc.2_RNA	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	424					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGGTACAAGCCGGGACCATTG	0.537													T	6452560	C	T	6452560	3	4	171	1	0	0	0	0	1	0	0	0	7346	652	23	1	122	1	HPX	11	6452560	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	35673	6452560	128553956	75	93050											
SLC17A6	57084	broad.mit.edu	37	chr11	22360124	22360124	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggccccaggaaaagagggGctaaagaattttgctggaaa	13	6	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:22360124G>C	uc001mqk.2	+	1	458	c.45G>C	c.(43-45)GGG>GGC	p.G15G		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	15	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GAAAAGAGGGGCTAAAGAATT	0.443													C	22360124	G	C	22360124	2	2	171	1	0	0	0	0	0	0	0	1	14421	1190	42	5		5	SLC17A6	11	22360124	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	15907564	22360124	112646392	76	93051											
OR5D18	219438	broad.mit.edu	37	chr11	55587672	55587672	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcactactctccctttcTtgctctgatacttacatcaa	2	15	5	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:55587672T>G	uc010rin.1	+	1	567	c.567T>G	c.(565-567)TCT>TCG	p.S189S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				TCTCCCTTTCTTGCTCTGATA	0.408													G	55587672	T	G	55587672	2	3	171	1	0	0	0	0	0	0	0	1	11157	1596	56	5		5	OR5D18	11	55587672	Silent	SNP	T	TCGA-CG-4441-01A-01D-1800-08	33227548	55587672	79418844	77	93052											
TCIRG1	10312	broad.mit.edu	37	chr11	67814973	67814973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggccacgggctgctcatGttcctgttcgccctggccat	13	14	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:67814973G>A	uc001one.2	+	11	1347	c.1239G>A	c.(1237-1239)ATG>ATA	p.M413I	TCIRG1_uc001ong.2_Missense_Mutation_p.M197I|TCIRG1_uc001onh.2_Missense_Mutation_p.M115I|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	413	Helical; (Potential).				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			ovary(1)	1						GGCTGCTCATGTTCCTGTTCG	0.637													A	67814973	G	A	67814973	3	1	171	1	0	0	0	0	1	0	0	0	15700	1377	48	4	1277	4	TCIRG1	11	67814973	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	12227301	67814973	67191543	78	93053											
C11orf63	79864	broad.mit.edu	37	chr11	122817487	122817487	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaaaaaagcataagaaaaGaagcagcagtaaggtaataa	11	3	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:122817487G>T	uc001pym.2	+	6	2213	c.1916G>T	c.(1915-1917)AGA>ATA	p.R639I		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	639										ovary(3)	3		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)		CATAAGAAAAGAAGCAGCAGT	0.383													T	122817487	G	T	122817487	3	4	171	1	0	0	0	0	1	0	0	0	1654	942	33	5	1998	5	C11orf63	11	122817487	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	55002514	122817487	12189029	79	93054											
OR6T1	219874	broad.mit.edu	37	chr11	123813599	123813599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgacttgtgaccctcAgtttcatcacagcagtgagc	8	12	3	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr11:123813599A>G	uc010sab.1	-	1	947	c.947T>C	c.(946-948)CTG>CCG	p.L316P		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		TGTGACCCTCAGTTTCATCAC	0.428													G	123813599	A	G	123813599	3	3	171	1	0	0	0	0	1	0	0	0	11210	188	7	3	27	3	OR6T1	11	123813599	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	996112	123813599	11192917	80	93055											
HDAC7	51564	broad.mit.edu	37	chr12	48183352	48183352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggggccgcaccacagCgaaaccattctggaaaaaga	11	12	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr12:48183352C>T	uc010slo.1	-	18	2296	c.2101G>A	c.(2101-2103)GCT>ACT	p.A701T	HDAC7_uc009zku.2_Intron|HDAC7_uc001rqe.2_Missense_Mutation_p.A135T|HDAC7_uc001rqj.3_Missense_Mutation_p.A664T|HDAC7_uc001rqk.3_Missense_Mutation_p.A684T|HDAC7_uc010slp.1_5'Flank	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	662	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CGCACCACAGCGAAACCATTC	0.532													T	48183352	C	T	48183352	3	4	171	1	0	0	0	0	1	0	0	0	7012	768	27	1	910	1	HDAC7	12	48183352	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08		48183352	85668543	81	93056											
NCKAP1L	3071	broad.mit.edu	37	chr12	54913027	54913027	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgagaaccctgacttagcCaaggtgatgaacctcattgt	9	10	1	4			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr12:54913027C>A	uc001sgc.3	+	16	1615	c.1536C>A	c.(1534-1536)GCC>GCA	p.A512A	NCKAP1L_uc010sox.1_Silent_p.A54A|NCKAP1L_uc010soy.1_Silent_p.A462A	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	512					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			ovary(3)|central_nervous_system(1)	4						CTGACTTAGCCAAGGTGATGA	0.483													A	54913027	C	A	54913027	2	1	171	1	0	0	0	0	0	0	0	1	10222	581	21	5		5	NCKAP1L	12	54913027	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	6729675	54913027	78938868	82	93057											
NAV3	89795	broad.mit.edu	37	chr12	78513023	78513023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccttaattagggaaaaCcgatgatgccaaagcttctg	8	9	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr12:78513023C>T	uc001syp.2	+	15	3220	c.3047C>T	c.(3046-3048)ACC>ATC	p.T1016I	NAV3_uc001syo.2_Missense_Mutation_p.T1016I|NAV3_uc010sub.1_Missense_Mutation_p.T516I|NAV3_uc009zsf.2_Missense_Mutation_p.T24I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1016						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTAGGGAAAACCGATGATGCC	0.388										HNSCC(70;0.22)			T	78513023	C	T	78513023	3	4	171	1	0	0	0	0	1	0	0	0	10185	507	18	4	3105	4	NAV3	12	78513023	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	23599996	78513023	55338872	83	93058											
TBX3	6926	broad.mit.edu	37	chr12	115120924	115120924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgcgctcatggcgaAgtccggcgcccggtgaggta	15	14	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr12:115120924A>C	uc001tvt.1	-	1	1046	c.82T>G	c.(82-84)TTC>GTC	p.F28V	TBX3_uc001tvu.1_Missense_Mutation_p.F28V|TBX3_uc010syw.1_Missense_Mutation_p.F28V	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	28					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			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTCATGGCGAAGTCCGGCGCC	0.701											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	115120924	A	C	115120924	3	2	171	1	0	0	0	0	1	0	0	0	15656	72	3	5	2181	5	TBX3	12	115120924	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08	36607901	115120924	18730971	84	93059											
NCOR2	9612	broad.mit.edu	37	chr12	124824647	124824647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctggagggcatcctgGgtccgaggggagatgggcga	19	9	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr12:124824647G>A	uc010tay.1	-	39	5778	c.5622C>T	c.(5620-5622)ACC>ACT	p.T1874T	NCOR2_uc010taz.1_Silent_p.T1858T|NCOR2_uc010tax.1_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1875					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			skin(3)|ovary(1)	4	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)		GGGCATCCTGGGTCCGAGGGG	0.502													A	124824647	G	A	124824647	2	1	171	1	0	0	0	0	0	0	0	1	10236	1219	43	4		4	NCOR2	12	124824647	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	9703723	124824647	9027248	85	93060											
TMEM132D	121256	broad.mit.edu	37	chr12	129566427	129566427	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtccacttgccagtcTgagcccagcaggtgggccag	14	12	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr12:129566427T>G	uc009zyl.1	-	7	2128	c.1800A>C	c.(1798-1800)TCA>TCC	p.S600S	TMEM132D_uc001uia.2_Silent_p.S138S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	600	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		CTTGCCAGTCTGAGCCCAGCA	0.642													G	129566427	T	G	129566427	2	3	171	1	0	0	0	0	0	0	0	1	16044	1567	55	5		5	TMEM132D	12	129566427	Silent	SNP	T	TCGA-CG-4441-01A-01D-1800-08	4741780	129566427	4285468	86	93061											
SACS	26278	broad.mit.edu	37	chr13	23912948	23912948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatacattgactttacActctgagtgaaaatgataag	6	6	2	4			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr13:23912948A>G	uc001uon.2	-	10	5656	c.5067T>C	c.(5065-5067)AGT>AGC	p.S1689S	SACS_uc001uoo.2_Silent_p.S1542S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1689					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TTGACTTTACACTCTGAGTGA	0.348													G	23912948	A	G	23912948	2	3	171	1	0	0	0	0	0	0	0	1	13804	156	6	3		3	SACS	13	23912948	Silent	SNP	A	TCGA-CG-4441-01A-01D-1800-08		23912948	91256930	87	93062											
NALCN	259232	broad.mit.edu	37	chr13	101735457	101735457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccttgacagagagcaAcaccgactgggccaggacga	12	11	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr13:101735457A>G	uc001vox.1	-	32	3865	c.3676T>C	c.(3676-3678)TTG>CTG	p.L1226L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1226	Helical; Name=S1 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGAGAGCAACACCGACTGG	0.413													G	101735457	A	G	101735457	2	3	171	1	0	0	0	0	0	0	0	1	10148	40	2	3		3	NALCN	13	101735457	Silent	SNP	A	TCGA-CG-4441-01A-01D-1800-08	77822509	101735457	13434421	88	93063											
DAOA	267012	broad.mit.edu	37	chr13	106142294	106142294	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggaaaagtcttcatggcaaGaaactatgagttccttgcct	9	8	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr13:106142294G>C	uc001vqb.2	+	4	600	c.326G>C	c.(325-327)AGA>ACA	p.R109T	DAOA_uc010tjf.1_Missense_Mutation_p.R38T|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.R81T|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	109						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ttcatggcaagaaactatgag	0													C	106142294	G	C	106142294	3	2	171	1	0	0	0	0	1	0	0	0	4232	942	33	5	449	5	DAOA	13	106142294	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	4406837	106142294	9027584	89	93064											
OR4Q3	441669	broad.mit.edu	37	chr14	20215736	20215736	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatagtggtaacagtgcaAgcccatgctcacctgctcca	9	12	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr14:20215736A>C	uc010tkt.1	+	1	150	c.150A>C	c.(148-150)CAA>CAC	p.Q50H		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAACAGTGCAAGCCCATGCTC	0.398													C	20215736	A	C	20215736	3	2	171	1	0	0	0	0	1	0	0	0	11081	69	3	5	152	5	OR4Q3	14	20215736	Missense_Mutation	SNP	A	TCGA-CG-4441-01A-01D-1800-08		20215736	87133804	90	93065											
SLC24A4	123041	broad.mit.edu	37	chr14	92909097	92909097	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgtcggggtgggcaccatCgtgggctctgctgtgttcaa	16	10	2	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr14:92909097C>T	uc001yak.2	+	6	492	c.468C>T	c.(466-468)ATC>ATT	p.I156I	SLC24A4_uc001yai.2_Silent_p.I109I|SLC24A4_uc010twm.1_Silent_p.I173I|SLC24A4_uc001yaj.2_Silent_p.I156I|SLC24A4_uc010auj.2_Silent_p.I64I|SLC24A4_uc010twn.1_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	173	Alpha-1.|Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		TGGGCACCATCGTGGGCTCTG	0.612													T	92909097	C	T	92909097	2	4	171	1	0	0	0	0	0	0	0	1	14468	874	31	1		1	SLC24A4	14	92909097	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	72693361	92909097	14440443	91	93066											
KIAA1409	57578	broad.mit.edu	37	chr14	94044282	94044282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtttcggagtcctttgcGtagtccgtttcgtagccctt	10	12	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr14:94044282G>A	uc001ybv.1	+	15	1858	c.1775G>A	c.(1774-1776)CGT>CAT	p.R592H	KIAA1409_uc001ybs.1_Missense_Mutation_p.R592H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	769						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AGTCCTTTGCGTAGTCCGTTT	0.438													A	94044282	G	A	94044282	3	1	171	1	0	0	0	0	1	0	0	0	8230	1145	40	1	1833	1	KIAA1409	14	94044282	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	1135185	94044282	13305258	92	93067											
RTL1	388015	broad.mit.edu	37	chr14	101348302	101348302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggatcatgatgggctcctCggtgttctccaggtagcggc	14	10	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr14:101348302C>T	uc010txj.1	-	1	2883	c.2824G>A	c.(2824-2826)GAG>AAG	p.E942K	MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	942										pancreas(1)	1						ATGGGCTCCTCGGTGTTCTCC	0.522													T	101348302	C	T	101348302	3	4	171	1	0	0	0	0	1	0	0	0	13724	893	31	1	1256	1	RTL1	14	101348302	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	7304020	101348302	6001238	93	93068											
RYR3	6263	broad.mit.edu	37	chr15	33831637	33831637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgatgacctcatcctcGtcagcgtgtcctctgaaaga	10	12	3	3			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr15:33831637G>A	uc001zhi.2	+	6	590	c.520G>A	c.(520-522)GTC>ATC	p.V174I	RYR3_uc010bar.2_Missense_Mutation_p.V174I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	174	MIR 2.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CCTCATCCTCGTCAGCGTGTC	0.433													A	33831637	G	A	33831637	3	1	171	1	0	0	0	0	1	0	0	0	13770	1145	40	1	542	1	RYR3	15	33831637	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08		33831637	68699755	94	93069											
CASC5	57082	broad.mit.edu	37	chr15	40915077	40915077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgataagaatgataTggatatcactaagagttata	9	3	1	5			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr15:40915077T>C	uc010bbs.1	+	11	2854	c.2693T>C	c.(2692-2694)ATG>ACG	p.M898T	CASC5_uc010ucq.1_Missense_Mutation_p.M722T|CASC5_uc001zme.2_Missense_Mutation_p.M872T|CASC5_uc010bbt.1_Missense_Mutation_p.M872T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	898	1.|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			breast(3)|central_nervous_system(1)|skin(1)	5		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)		AAGAATGATATGGATATCACT	0.333													C	40915077	T	C	40915077	3	2	171	1	0	0	0	0	1	0	0	0	2663	1464	51	3	2731	3	CASC5	15	40915077	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	7083440	40915077	61616315	95	93070											
TMEM62	80021	broad.mit.edu	37	chr15	43438759	43438759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactccctttggcaactattCgttcatctgtgtagatgcca	7	11	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr15:43438759C>T	uc001zqr.2	+	5	824	c.545C>T	c.(544-546)TCG>TTG	p.S182L	TMEM62_uc010bda.2_Missense_Mutation_p.S52L	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	182						integral to membrane				ovary(1)|breast(1)	2		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)		GGCAACTATTCGTTCATCTGT	0.393													T	43438759	C	T	43438759	3	4	171	1	0	0	0	0	1	0	0	0	16186	893	31	1	563	1	TMEM62	15	43438759	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	2523682	43438759	59092633	96	93071											
AKAP13	11214	broad.mit.edu	37	chr15	86122866	86122866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcctctgacgtgcacGtcacaagtaagcctgtggat	12	11	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr15:86122866G>A	uc002blv.1	+	7	1737	c.1567G>A	c.(1567-1569)GTC>ATC	p.V523I	AKAP13_uc002blt.1_Missense_Mutation_p.V523I|AKAP13_uc002blu.1_Missense_Mutation_p.V523I	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	523					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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TGACGTGCACGTCACAAGTAA	0.473													A	86122866	G	A	86122866	3	1	171	1	0	0	0	0	1	0	0	0	449	1145	40	1	1589	1	AKAP13	15	86122866	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	42684107	86122866	16408526	97	93072											
ACAN	176	broad.mit.edu	37	chr15	89389036	89389036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcccacacctggcctggGccctgccacggcattcacca	8	19	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr15:89389036G>A	uc010upo.1	+	7	1726	c.1352G>A	c.(1351-1353)GGC>GAC	p.G451D	ACAN_uc002bmx.2_Missense_Mutation_p.G451D|ACAN_uc010upp.1_Missense_Mutation_p.G451D|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	451					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGGCCTGGGCCCTGCCACG	0.617													A	89389036	G	A	89389036	3	1	171	1	0	0	0	0	1	0	0	0	117	1203	42	2	1374	2	ACAN	15	89389036	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	3266170	89389036	13142356	98	93073											
ASB7	140460	broad.mit.edu	37	chr15	101169958	101169958	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaccacaatgccaacatCgacattcagaatggtttcct	7	12	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr15:101169958C>T	uc002bwk.2	+	5	1297	c.528C>T	c.(526-528)ATC>ATT	p.I176I	ASB7_uc002bwj.2_Silent_p.I176I	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	176	ANK 5.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATGCCAACATCGACATTCAGA	0.488													T	101169958	C	T	101169958	2	4	171	1	0	0	0	0	0	0	0	1	1028	874	31	1		1	ASB7	15	101169958	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	11780922	101169958	1361434	99	93074											
OR4F15	390649	broad.mit.edu	37	chr15	102358889	102358889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttttgtggtagatttacCtttttgtggtcctaatatct	8	5	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr15:102358889C>T	uc010uts.1	+	1	500	c.500C>T	c.(499-501)CCT>CTT	p.P167L		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTAGATTTACCTTTTTGTGGT	0.423													T	102358889	C	T	102358889	3	4	171	1	0	0	0	0	1	0	0	0	11061	681	24	4	502	4	OR4F15	15	102358889	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	1188931	102358889	172503	100	93075											
ABCC1	4363	broad.mit.edu	37	chr16	16215891	16215891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcggtcagccgctccccGgtctattcccatttcaacga	9	15	3	0	rs4148377		TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr16:16215891G>A	uc010bvi.2	+	24	3625	c.3450G>A	c.(3448-3450)CCG>CCA	p.P1150P	ABCC1_uc010bvj.2_Silent_p.P1091P|ABCC1_uc010bvk.2_Silent_p.P1094P|ABCC1_uc010bvl.2_Silent_p.P1150P|ABCC1_uc010bvm.2_Silent_p.P1035P|ABCC1_uc002del.3_Silent_p.P1044P	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1150	Cytoplasmic.|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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCGCTCCCCGGTCTATTCCC	0.607													A	16215891	G	A	16215891	2	1	171	1	0	0	0	0	0	0	0	1	49	1103	39	1		1	ABCC1	16	16215891	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08		16215891	74138862	101	93076											
HYDIN	54768	broad.mit.edu	37	chr16	70926295	70926295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggctggtgctcaatcTtcacttccttttttgcatgg	9	10	3	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr16:70926295T>G	uc002ezr.2	-	56	9511	c.9383A>C	c.(9382-9384)AAG>ACG	p.K3128T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3129										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GTGCTCAATCTTCACTTCCTT	0.473													G	70926295	T	G	70926295	3	3	171	1	0	0	0	0	1	0	0	0	7467	1609	56	5	6103	5	HYDIN	16	70926295	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	54710404	70926295	19428458	102	93077											
EFNB3	1949	broad.mit.edu	37	chr17	7611470	7611470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttctcacttgtgatcGcccagacctggatctccgct	7	17	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr17:7611470G>A	uc002gis.2	+	2	714	c.317G>A	c.(316-318)CGC>CAC	p.R106H		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	106	Extracellular (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				ACTTGTGATCGCCCAGACCTG	0.557													A	7611470	G	A	7611470	3	1	171	1	0	0	0	0	1	0	0	0	4957	1087	38	1	323	1	EFNB3	17	7611470	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08		7611470	73583740	103	93078											
OTOP3	347741	broad.mit.edu	37	chr17	72938070	72938070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacgatgtgagccacatcCgctgcaagtcacagctggac	11	13	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr17:72938070C>T	uc010wrr.1	+	3	565	c.565C>T	c.(565-567)CGC>TGC	p.R189C	OTOP3_uc010wrq.1_Missense_Mutation_p.R171C	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	189						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGCCACATCCGCTGCAAGTC	0.587													T	72938070	C	T	72938070	3	4	171	1	0	0	0	0	1	0	0	0	11307	652	23	1	575	1	OTOP3	17	72938070	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	65326600	72938070	8257140	104	93079											
CASKIN2	57513	broad.mit.edu	37	chr17	73499210	73499210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccgttctccagtccctCgatggccatcagctccggac	8	17	3	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr17:73499210C>T	uc002joc.2	-	18	2495	c.1945G>A	c.(1945-1947)GAG>AAG	p.E649K	CASKIN2_uc010wsc.1_Missense_Mutation_p.E567K	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	649						cytoplasm				pancreas(1)	1	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)			TCCAGTCCCTCGATGGCCATC	0.701													T	73499210	C	T	73499210	3	4	171	1	0	0	0	0	1	0	0	0	2667	893	31	1	1675	1	CASKIN2	17	73499210	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	561140	73499210	7696000	105	93080											
ITGB4	3691	broad.mit.edu	37	chr17	73732147	73732147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcagaccgaggacgctgctCcatgggccagtgtgtgtgtg	16	10	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr17:73732147C>A	uc002jpg.2	+	14	1860	c.1673C>A	c.(1672-1674)TCC>TAC	p.S558Y	ITGB4_uc002jph.2_Missense_Mutation_p.S558Y|ITGB4_uc010dgo.2_Missense_Mutation_p.S558Y|ITGB4_uc002jpi.3_Missense_Mutation_p.S558Y|ITGB4_uc010dgp.1_Missense_Mutation_p.S558Y|ITGB4_uc002jpj.2_Missense_Mutation_p.S558Y|ITGB4_uc010wsh.1_Missense_Mutation_p.S113Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	558	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.				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			lung(4)	4	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)			GGACGCTGCTCCATGGGCCAG	0.627													A	73732147	C	A	73732147	3	1	171	1	0	0	0	0	1	0	0	0	7897	855	30	5	1723	5	ITGB4	17	73732147	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	232937	73732147	7463063	106	93081											
SLC38A10	124565	broad.mit.edu	37	chr17	79219698	79219698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctcctggacagcagcGtcctccccgcctctcggctg	12	18	1	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr17:79219698G>A	uc002jzz.1	-	16	3393	c.3018C>T	c.(3016-3018)GAC>GAT	p.D1006D	SLC38A10_uc002jzy.1_Silent_p.D924D	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	1006					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGACAGCAGCGTCCTCCCCGC	0.701													A	79219698	G	A	79219698	2	1	171	1	0	0	0	0	0	0	0	1	14602	1136	40	1		1	SLC38A10	17	79219698	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	5487551	79219698	1975512	107	93082											
BAHCC1	57597	broad.mit.edu	37	chr17	79429767	79429767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccatgtcccccacagcGgcgtggcatgaaggggaagg	15	13	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr17:79429767G>A	uc002kaf.2	+	25	7385	c.7385G>A	c.(7384-7386)CGG>CAG	p.R2462Q		NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2462							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CCCCCACAGCGGCGTGGCATG	0.612													A	79429767	G	A	79429767	3	1	171	1	0	0	0	0	1	0	0	0	1296	1130	39	1	7322	1	BAHCC1	17	79429767	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	210069	79429767	1765443	108	93083											
CETN1	1068	broad.mit.edu	37	chr18	580610	580610	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcgaacccaggaaggaaGagatgaagaaaatgatctcc	11	8	1	4			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr18:580610G>A	uc002kko.1	+	1	244	c.202G>A	c.(202-204)GAG>AAG	p.E68K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	68	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						CAGGAAGGAAGAGATGAAGAA	0.557													A	580610	G	A	580610	3	1	171	1	0	0	0	0	1	0	0	0	3274	943	33	4	204	4	CETN1	18	580610	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08		580610	77496638	109	93084											
RIOK3	8780	broad.mit.edu	37	chr18	21057017	21057018	+	Frame_Shift_Ins	INS	-	-	CAGTGAG													cgcttgtccatgctgacctcINSagtgagtataacatgctgtg							TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr18:21057016_21057017T>TCAGTGAG	uc002kui.4	+	9	1837_1838	c.1220_1221T>TCAGTGAG	c.(1219-1221)ctcfs	p.L407fs	RIOK3_uc010dls.3_Frame_Shift_Ins_p.L407fs|RIOK3_uc010xas.2_Frame_Shift_Ins_p.L391fs|RIOK3_uc010xat.2_Frame_Shift_Ins_p.L151fs	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	407	Protein kinase.				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)					CATGCTGACCTCAGTGAGTATA	0.356													CAGTGAG	21057018	-	CAGTGAG	21057017	7	5	171	1	0	1	1	0	0	0	0	0	13379	813	29	0	1259	0	RIOK3	18	21057017	Frame_Shift_Ins	INS	-	TCGA-CG-4441-01A-01D-1800-08	20476407	21057017	57020231	110	93085											
CDH2	1000	broad.mit.edu	37	chr18	25593761	25593761	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacttggcatgctcagaagaGagtggaaagcttctcacggc	12	9	2	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr18:25593761G>T	uc002kwg.2	-	3	744	c.285C>A	c.(283-285)CTC>CTA	p.L95L	CDH2_uc010xbn.1_Silent_p.L64L	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	95					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			ovary(3)|lung(1)	4						GCTCAGAAGAGAGTGGAAAGC	0.448													T	25593761	G	T	25593761	2	4	171	1	0	0	0	0	0	0	0	1	3105	929	33	5		5	CDH2	18	25593761	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	4536744	25593761	52483487	111	93086											
DSEL	92126	broad.mit.edu	37	chr18	65178313	65178313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttccaaacattagtaTtagttggtgatatttcccct	6	8	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr18:65178313T>G	uc002lke.1	-	2	4787	c.3563A>C	c.(3562-3564)AAT>ACT	p.N1188T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1178						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AACATTAGTATTAGTTGGTGA	0.368													G	65178313	T	G	65178313	3	3	171	1	0	0	0	0	1	0	0	0	4775	1493	52	5	109	5	DSEL	18	65178313	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	39584552	65178313	12898935	112	93087											
MED16	10025	broad.mit.edu	37	chr19	879980	879980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagggccagtgacgtccacGatagctgcatagcctttaag	11	12	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:879980G>A	uc002lqd.1	-	8	1461	c.1310C>T	c.(1309-1311)TCG>TTG	p.S437L	MED16_uc010drw.1_Missense_Mutation_p.S262L|MED16_uc002lqe.2_Missense_Mutation_p.S426L|MED16_uc002lqf.2_Missense_Mutation_p.S426L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S426L|MED16_uc010xfx.1_Missense_Mutation_p.S282L|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	437					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				0		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)		TGACGTCCACGATAGCTGCAT	0.682													A	879980	G	A	879980	3	1	171	1	0	0	0	0	1	0	0	0	9434	1059	37	1	1359	1	MED16	19	879980	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08		879980	58249003	113	93088											
FZR1	51343	broad.mit.edu	37	chr19	3533300	3533300	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgccctccaggtgagcacGcacggctactcacagaacca	9	17	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:3533300G>T	uc010dtk.2	+	11	1285	c.1251G>T	c.(1249-1251)ACG>ACT	p.T417T	FZR1_uc002lxt.2_Silent_p.T417T|FZR1_uc002lxv.2_Silent_p.T328T	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	417	WD 6.				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			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGAGCACGCACGGCTACT	0.662													T	3533300	G	T	3533300	2	4	171	1	0	0	0	0	0	0	0	1	6138	1074	38	5		5	FZR1	19	3533300	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	2653320	3533300	55595683	114	93089											
ZNF562	54811	broad.mit.edu	37	chr19	9764240	9764240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaatgtggattcccatGtgattatcaaggcttgcaaa	8	9	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:9764240G>A	uc010xks.1	-	6	829	c.666C>T	c.(664-666)CAC>CAT	p.H222H	ZNF562_uc002mly.2_Silent_p.H222H|ZNF562_uc002mlx.2_Silent_p.H150H|ZNF562_uc010xkt.1_Silent_p.H185H|ZNF562_uc010xku.1_Silent_p.H153H|ZNF562_uc010xkv.1_Silent_p.H221H|ZNF562_uc010xkw.1_Silent_p.H106H	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	222	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGATTCCCATGTGATTATCAA	0.413													A	9764240	G	A	9764240	2	1	171	1	0	0	0	0	0	0	0	1	17990	1368	48	4		4	ZNF562	19	9764240	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	6230940	9764240	49364743	115	93090											
NCAN	1463	broad.mit.edu	37	chr19	19339331	19339331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcaccctgggcatagagGacttcgaactggaggtcctg	13	11	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:19339331G>A	uc002nlz.2	+	8	3001	c.2902G>A	c.(2902-2904)GAC>AAC	p.D968N	NCAN_uc010ecc.1_Missense_Mutation_p.D532N	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	968					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GGGCATAGAGGACTTCGAACT	0.642													A	19339331	G	A	19339331	3	1	171	1	0	0	0	0	1	0	0	0	10204	1174	41	4	2928	4	NCAN	19	19339331	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	9575091	19339331	39789652	116	93091											
ATP4A	495	broad.mit.edu	37	chr19	36050871	36050871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccacaaaatgctcgatctCgatagcgatgggtgtcttct	10	10	3	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:36050871C>T	uc002oal.1	-	7	921	c.892G>A	c.(892-894)GAG>AAG	p.E298K	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	298	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	TGCTCGATCTCGATAGCGATG	0.587													T	36050871	C	T	36050871	3	4	171	1	0	0	0	0	1	0	0	0	1145	893	31	1	2279	1	ATP4A	19	36050871	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	16711540	36050871	23078112	117	93092											
PAPL	390928	broad.mit.edu	37	chr19	39592115	39592115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttccccaggtatttaacGgcagccgagagatgccctac	9	15	0	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:39592115G>A	uc002oki.2	+	11	1325	c.1051G>A	c.(1051-1053)GGC>AGC	p.G351S	PAPL_uc010egl.2_Silent_p.T309T	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	351						extracellular region	acid phosphatase activity|metal ion binding				0						GGTATTTAACGGCAGCCGAGA	0.612													A	39592115	G	A	39592115	3	1	171	1	0	0	0	0	1	0	0	0	11427	1116	39	1	1089	1	PAPL	19	39592115	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	3541244	39592115	19536868	118	93093											
POLD1	5424	broad.mit.edu	37	chr19	50918996	50918996	+	Frame_Shift_Del	DEL	C	C	-													cgcaggatgaggaagcgggaCcccgggagtgcgcccagcct							TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:50918996delC	uc002psb.3	+	22	2789	c.2733delC	c.(2731-2733)GACfs	p.D911fs	POLD1_uc002psc.3_Frame_Shift_Del_p.D911fs|POLD1_uc010enx.2_Intron|POLD1_uc010eny.2_Frame_Shift_Del_p.D937fs	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	911					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			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGAAGCGGGACCCCGGGAGTG	0.478								DNA_polymerases_(catalytic_subunits)					-	50918996	C	-	50918996	7	5	171	1	0	1	0	1	0	0	0	0	12190	506	18	0	2815	0	POLD1	19	50918996	Frame_Shift_Del	DEL	C	TCGA-CG-4441-01A-01D-1800-08	11326881	50918996	8209987	119	93094											
ZNF677	342926	broad.mit.edu	37	chr19	53741786	53741786	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttggtgataatcccTtgcttgtaaatccaacagaa	6	9	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:53741786T>G	uc002qbf.1	-	5	379	c.194A>C	c.(193-195)AAG>ACG	p.K65T	ZNF677_uc002qbg.1_Missense_Mutation_p.K65T	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TGATAATCCCTTGCTTGTAAA	0.303													G	53741786	T	G	53741786	3	3	171	1	0	0	0	0	1	0	0	0	18081	1609	56	5	1564	5	ZNF677	19	53741786	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	2822790	53741786	5387197	120	93095											
ZNF606	80095	broad.mit.edu	37	chr19	58490018	58490018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattacatttatagggtttcTcaccagtgtgaattctccga	8	8	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr19:58490018T>C	uc002qqw.2	-	7	2648	c.2030A>G	c.(2029-2031)GAG>GGG	p.E677G	ZNF606_uc010yhp.1_Missense_Mutation_p.E587G	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		ATAGGGTTTCTCACCAGTGTG	0.418													C	58490018	T	C	58490018	3	2	171	1	0	0	0	0	1	0	0	0	18029	1551	54	3	352	3	ZNF606	19	58490018	Missense_Mutation	SNP	T	TCGA-CG-4441-01A-01D-1800-08	4748232	58490018	638965	121	93096											
KIF16B	55614	broad.mit.edu	37	chr20	16352381	16352383	+	In_Frame_Del	DEL	CTT	CTT	-													atcctgaaggcgtctttggaCttcttcttcaatgtaagcat							TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr20:16352380_16352382ACTT>A	uc002wpg.2	-	20	3534_3536	c.3375_3377AAGT>T	c.(3373-3378)gaagtc>gaTc	p.1125_1126EV>D	KIF16B_uc002wpe.1_In_Frame_Del_p.507_508EV>D|KIF16B_uc002wpf.1_In_Frame_Del_p.507_508EV>D|KIF16B_uc010gch.2_In_Frame_Del_p.1074_1075EV>D|KIF16B_uc010gci.2_In_Frame_Del_p.1125_1126EV>D	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1125					Golgi to endosome transport|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|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						GCGTCTTTGGACTTCTTCTTCAA	0.443													-	16352383	CTT	-	16352381	7	5	171	1	0	1	0	1	0	0	0	0	8278	565	20	0	601	0	KIF16B	20	16352381	In_Frame_Del	DEL	CTT	TCGA-CG-4441-01A-01D-1800-08		16352381	46673139	122	93097											
ACSS1	84532	broad.mit.edu	37	chr20	24993556	24993556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagttcggtaagccccGtctccagtgaagtaatagcc	9	14	2	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr20:24993556G>A	uc002wub.2	-	11	2477	c.1599C>T	c.(1597-1599)GAC>GAT	p.D533D	ACSS1_uc002wuc.2_Silent_p.D531D|ACSS1_uc010gdc.2_Silent_p.D328D|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Silent_p.D450D	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	533					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTAAGCCCCGTCTCCAGTGA	0.572													A	24993556	G	A	24993556	2	1	171	1	0	0	0	0	0	0	0	1	188	1136	40	1		1	ACSS1	20	24993556	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	8641175	24993556	38031964	123	93098											
PTPRT	11122	broad.mit.edu	37	chr20	41420056	41420056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggttggcaggagaaggtGggccttctggccagaggctc	18	9	1	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr20:41420056G>T	uc002xkg.2	-	3	449	c.265C>A	c.(265-267)CAC>AAC	p.H89N	PTPRT_uc010ggj.2_Missense_Mutation_p.H89N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	89	Extracellular (Potential).|MAM.				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGAGAAGGTGGGCCTTCTGG	0.537													T	41420056	G	T	41420056	3	4	171	1	0	0	0	0	1	0	0	0	12812	1348	47	5	4237	5	PTPRT	20	41420056	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	16426500	41420056	21605464	124	93099											
TP53TG5	27296	broad.mit.edu	37	chr20	44002629	44002629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctctgctcgcacctctgGctctcgtccaggtcacatca	7	18	5	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr20:44002629G>A	uc002xny.2	-	5	872	c.791C>T	c.(790-792)GCC>GTC	p.A264V	SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	264					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						CGCACCTCTGGCTCTCGTCCA	0.592											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44002629	G	A	44002629	3	1	171	1	0	0	0	0	1	0	0	0	16388	1203	42	2	85	2	TP53TG5	20	44002629	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	2582573	44002629	19022891	125	93100											
PTK6	5753	broad.mit.edu	37	chr20	62165514	62165514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggctaccttccggcaGggcgcggccagccgcaggcc	17	16	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr20:62165514G>A	uc002yfg.2	-	3	547	c.507C>T	c.(505-507)CCC>CCT	p.P169P	PTK6_uc011aay.1_Silent_p.P68P|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	169	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CCTTCCGGCAGGGCGCGGCCA	0.687													A	62165514	G	A	62165514	2	1	171	1	0	0	0	0	0	0	0	1	12764	987	35	4		4	PTK6	20	62165514	Silent	SNP	G	TCGA-CG-4441-01A-01D-1800-08	18162885	62165514	860006	126	93101											
DNAJC5	80331	broad.mit.edu	37	chr20	62562251	62562251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgctgctactgctgctgCtgtctgtgctgctgcttcaa	11	12	2	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr20:62562251C>T	uc002yhf.2	+	4	539	c.369C>T	c.(367-369)TGC>TGT	p.C123C	DNAJC5_uc002yhg.1_Silent_p.C123C|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	123	Poly-Cys.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					actgctgctgctgtctgtgct	0.488													T	62562251	C	T	62562251	2	4	171	1	0	0	0	0	0	0	0	1	4650	805	28	2		2	DNAJC5	20	62562251	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	396737	62562251	463269	127	93102											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338365	28338365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcactcgtcccgcctcctgCgggcacgaagccagcaatgc	11	18	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr21:28338365C>T	uc002ymg.2	-	1	1075	c.346G>A	c.(346-348)GCA>ACA	p.A116T		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	116					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CCGCCTCCTGCGGGCACGAAG	0.682													T	28338365	C	T	28338365	3	4	171	1	0	0	0	0	1	0	0	0	269	768	27	1	2478	1	ADAMTS5	21	28338365	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08		28338365	19791530	128	93103											
DSCR3	10311	broad.mit.edu	37	chr21	38612909	38612909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttggactgaatccttaCtcgatatgaccaccacgcca	9	12	0	2			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr21:38612909C>A	uc002ywf.1	-	3	328	c.89G>T	c.(88-90)AGT>ATT	p.S30I	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_5'UTR|DSCR3_uc010gnl.2_Missense_Mutation_p.S30I|DSCR3_uc011aeg.1_Missense_Mutation_p.S30I|DSCR3_uc011aeh.1_Intron	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	30					vacuolar transport	nucleus|retromer complex					0						TGAATCCTTACTCGATATGAC	0.453													A	38612909	C	A	38612909	3	1	171	1	0	0	0	0	1	0	0	0	4771	565	20	5	832	5	DSCR3	21	38612909	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	10274544	38612909	9516986	129	93104											
TRPM2	7226	broad.mit.edu	37	chr21	45833814	45833814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcagccccaatggcacCgacccctacaagcctaagtg	8	17	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr21:45833814C>T	uc002zet.1	+	21	3216	c.3003C>T	c.(3001-3003)ACC>ACT	p.T1001T	TRPM2_uc002zeu.1_Silent_p.T1001T|TRPM2_uc002zew.1_Silent_p.T1001T|TRPM2_uc010gpt.1_Silent_p.T1001T|TRPM2_uc002zex.1_Silent_p.T787T|TRPM2_uc002zey.1_Silent_p.T514T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1001	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCAATGGCACCGACCCCTACA	0.612													T	45833814	C	T	45833814	2	4	171	1	0	0	0	0	0	0	0	1	16583	639	23	1		1	TRPM2	21	45833814	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08	7220905	45833814	2296081	130	93105											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31851888	31851888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgacccaagactgctggatCggcttcctgatctgctcggg	12	12	1	3	rs138781990		TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr22:31851888C>T	uc003akz.1	-	8	1213	c.1049G>A	c.(1048-1050)CGA>CAA	p.R350Q	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.R29Q|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.R29Q|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R350Q|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.R187Q	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	350						nucleus	protein binding|protein transporter activity			ovary(1)	1						ACTGCTGGATCGGCTTCCTGA	0.478											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	31851888	C	T	31851888	3	4	171	1	0	0	0	0	1	0	0	0	5035	884	31	1	1959	1	EIF4ENIF1	22	31851888	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08		31851888	19452678	131	93106											
EP300	2033	broad.mit.edu	37	chr22	41572924	41572924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccgcctgagtatccagCgctgcatccagtctctggtc	10	16	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr22:41572924C>T	uc003azl.3	+	31	5604	c.5209C>T	c.(5209-5211)CGC>TGC	p.R1737C		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1737	Binding region for E1A adenovirus.|TAZ-type 2.				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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GAGTATCCAGCGCTGCATCCA	0.562			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41572924	C	T	41572924	3	4	171	1	0	0	0	0	1	0	0	0	5148	768	27	1	5331	1	EP300	22	41572924	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	9721036	41572924	9731642	132	93107											
MOV10L1	54456	broad.mit.edu	37	chr22	50555597	50555597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcaagaaatcctggccGctgcaaggagctccttttgc	9	11	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chr22:50555597G>A	uc003bjj.2	+	9	1354	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	MOV10L1_uc003bjk.3_Missense_Mutation_p.R424H|MOV10L1_uc011arp.1_Missense_Mutation_p.R404H|MOV10L1_uc011arq.1_Missense_Mutation_p.R185H|MOV10L1_uc010hao.1_RNA	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	424					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		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)		AATCCTGGCCGCTGCAAGGAG	0.388													A	50555597	G	A	50555597	3	1	171	1	0	0	0	0	1	0	0	0	9719	1087	38	1	1346	1	MOV10L1	22	50555597	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	8982673	50555597	748969	133	93108											
PPP2R3B	28227	broad.mit.edu	37	chrX	299398	299398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtcgtactcctcggcCgcgtacttctcccagtccga	10	15	1	0	rs140356111	byFrequency	TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chrX:299398C>T	uc004cpg.2	-	12	1719	c.1518G>A	c.(1516-1518)GCG>GCA	p.A506A	PPP2R3B_uc004cpf.2_Silent_p.A107A	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	506					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				0		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)				ACTCCTCGGCCGCGTACTTCT	0.433													T	299398	C	T	299398	2	4	171	1	0	0	0	0	0	0	0	1	12389	639	23	1		1	PPP2R3B	23	299398	Silent	SNP	C	TCGA-CG-4441-01A-01D-1800-08		299398	154971162	134	93109											
ARMCX6	54470	broad.mit.edu	37	chrX	100871324	100871324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgttttattgggtgtgctCggttggccttgcctccccct	12	12	0	0			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chrX:100871324C>T	uc004ehx.2	-	3	632	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	ARMCX6_uc004ehy.2_Missense_Mutation_p.R96Q	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	96						integral to membrane					0						TGGGTGTGCTCGGTTGGCCTT	0.537													T	100871324	C	T	100871324	3	4	171	1	0	0	0	0	1	0	0	0	963	884	31	1	619	1	ARMCX6	23	100871324	Missense_Mutation	SNP	C	TCGA-CG-4441-01A-01D-1800-08	100571926	100871324	54399236	135	93110											
ZMAT1	84460	broad.mit.edu	37	chrX	101139163	101139163	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctatctttctgaaacaAgtttttggctctagtcctct	5	11	5	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chrX:101139163A>C	uc004eim.2	-	2	4221	c.723T>G	c.(721-723)ACT>ACG	p.T241T	ZMAT1_uc011mrl.1_Silent_p.T412T|ZMAT1_uc004ein.2_Silent_p.T241T|ZMAT1_uc011mrm.1_Silent_p.T241T	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	241						nucleus	zinc ion binding			ovary(1)	1						TTCTGAAACAAGTTTTTGGCT	0.408													C	101139163	A	C	101139163	2	2	171	1	0	0	0	0	0	0	0	1	17688	59	3	5		5	ZMAT1	23	101139163	Silent	SNP	A	TCGA-CG-4441-01A-01D-1800-08	267839	101139163	54131397	136	93111											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298907	125298907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgctggcgctggcgcGgatccaggaaggagacgtgg	18	9	1	1			TCGA-CG-4441-01A-01D-1800-08	TCGA-CG-4441-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3561742b-6710-43fc-be5f-e79fe27a2106	26a663df-034d-4549-b77e-aca4e2c7c522	g.chrX:125298907G>A	uc004euk.1	-	1	1028	c.1001C>T	c.(1000-1002)CCG>CTG	p.P334L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCGCTGGCGCGGATCCAGGAA	0.617													A	125298907	G	A	125298907	3	1	171	1	0	0	0	0	1	0	0	0	4265	1116	39	1	394	1	DCAF12L2	23	125298907	Missense_Mutation	SNP	G	TCGA-CG-4441-01A-01D-1800-08	24159744	125298907	29971653	137	93112											
CPSF3L	54973	broad.mit.edu	37	chr1	1249291	1249291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgggcaccttcaggtTcatgcgctccctggggacca	13	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:1249291T>C	uc001aee.1	-	9	836	c.778A>G	c.(778-780)AAC>GAC	p.N260D	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.N266D|CPSF3L_uc009vjz.1_Missense_Mutation_p.N238D|CPSF3L_uc010nyj.1_Missense_Mutation_p.N231D|CPSF3L_uc001aeg.1_Missense_Mutation_p.N136D|CPSF3L_uc001aeh.1_Missense_Mutation_p.N159D|CPSF3L_uc001aei.1_Missense_Mutation_p.N162D|CPSF3L_uc001aej.1_Missense_Mutation_p.N87D|CPSF3L_uc001aek.1_Missense_Mutation_p.N2D	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	260						Golgi apparatus|nucleus	hydrolase activity				0	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)		ACCTTCAGGTTCATGCGCTCC	0.622													C	1249291	T	C	1249291	3	2	172	1	0	0	0	0	1	0	0	0	3827	1783	62	3	1060	3	CPSF3L	1	1249291	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08		1249291	248001330	1	93113											
MXRA8	54587	broad.mit.edu	37	chr1	1290349	1290349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgtagaggtccagcaggCggtccgcgcggtcgtgcggg	19	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:1290349C>T	uc001aew.2	-	5	693	c.662G>A	c.(661-663)CGC>CAC	p.R221H	MXRA8_uc001aex.3_Missense_Mutation_p.R221H|MXRA8_uc001aey.3_Missense_Mutation_p.R221H|MXRA8_uc010nyl.1_Missense_Mutation_p.R221H|MXRA8_uc001aez.2_Missense_Mutation_p.R120H|MXRA8_uc001afa.2_Missense_Mutation_p.R212H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	221	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0	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)		GTCCAGCAGGCGGTCCGCGCG	0.736													T	1290349	C	T	1290349	3	4	172	1	0	0	0	0	1	0	0	0	10005	768	27	1	690	1	MXRA8	1	1290349	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	41058	1290349	247960272	2	93114											
VWA1	64856	broad.mit.edu	37	chr1	1372689	1372689	+	Frame_Shift_Del	DEL	C	C	-													ggctccagcgaccctgtgggCccccccatgcaggagctcaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:1372689delC	uc001afs.2	+	2	676	c.456delC	c.(454-456)GGCfs	p.G152fs	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	152	VWFA.					basement membrane					0	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)		ACCCTGTGGGCCCCCCCATGC	0.647													-	1372689	C	-	1372689	7	5	172	1	0	1	0	1	0	0	0	0	17235	726	26	0	462	0	VWA1	1	1372689	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	82340	1372689	247877932	3	93115											
MORN1	79906	broad.mit.edu	37	chr1	2317268	2317268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagcatctgcccagggcCgtgcctcttgttgtcatgga	12	11	3	1	rs147757432		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:2317268C>T	uc001ajb.1	-	5	448	c.427G>A	c.(427-429)GGC>AGC	p.G143S	MORN1_uc009vld.2_Missense_Mutation_p.G119S|MORN1_uc001ajd.1_Missense_Mutation_p.G143S|MORN1_uc010nyy.1_Silent_p.T85T	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	143	MORN 5.									ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCCCAGGGCCGTGCCTCTTG	0.582													T	2317268	C	T	2317268	3	4	172	1	0	0	0	0	1	0	0	0	9708	652	23	1	1106	1	MORN1	1	2317268	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	944579	2317268	246933353	4	93116											
MMEL1	79258	broad.mit.edu	37	chr1	2528129	2528129	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accattgtgccaaacagcgcCtggtggggccacccgatcat	11	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:2528129C>A	uc001ajy.2	-	14	1487	c.1273_splice	c.e14-1	p.A425_splice	MMEL1_uc009vlg.1_Splice_Site	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1						proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	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)		CAAACAGCGCCTGGTGGGGCC	0.657													A	2528129	C	A	2528129	5	1	172	1	0	0	0	0	0	0	1	0	9646	695	24	5	1111	5	MMEL1	1	2528129	Splice_Site	SNP	C	TCGA-CG-4442-01A-01D-1158-08	210861	2528129	246722492	5	93117											
LRRC47	57470	broad.mit.edu	37	chr1	3703754	3703754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtctggcagccgctgaCcatcttctccaggcgcttgt	11	14	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:3703754C>T	uc001akx.1	-	2	764	c.736G>A	c.(736-738)GTC>ATC	p.V246I		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	246	LRR 7.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	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)		CAGCCGCTGACCATCTTCTCC	0.602													T	3703754	C	T	3703754	3	4	172	1	0	0	0	0	1	0	0	0	9004	507	18	4	1039	4	LRRC47	1	3703754	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1175625	3703754	245546867	6	93118											
LRRC47	57470	broad.mit.edu	37	chr1	3703780	3703780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggcgcttgtccctcAgcttgttcccacggaaattg	9	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:3703780A>G	uc001akx.1	-	2	738	c.710T>C	c.(709-711)CTG>CCG	p.L237P		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	237	LRR 7.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	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)		CTTGTCCCTCAGCTTGTTCCC	0.612													G	3703780	A	G	3703780	3	3	172	1	0	0	0	0	1	0	0	0	9004	188	7	3	1065	3	LRRC47	1	3703780	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	26	3703780	245546841	7	93119											
AJAP1	55966	broad.mit.edu	37	chr1	4829992	4829993	+	Frame_Shift_Ins	INS	-	-	A													tcatcacaactcttgtcttaINSaaaaattggtaaggctcctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:4829991_4829992T>TA	uc001alm.1	+	2	1289_1290	c.908_909T>TA	c.(907-909)ttafs	p.L303fs	AJAP1_uc001aln.3_Frame_Shift_Ins_p.L303fs	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	303	Targeting signals.				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)		ACTCTTGTCTTAAAAAATTGGT	0.51													A	4829993	-	A	4829992	7	5	172	1	0	1	1	0	0	0	0	0	438	359	13	0	919	0	AJAP1	1	4829992	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1126212	4829992	244420629	8	93120											
CHD5	26038	broad.mit.edu	37	chr1	6208971	6208971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcagcggcgggttgagGcaatgcaggtggtaggagga	21	6	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:6208971G>A	uc001amb.1	-	9	1426	c.1326C>T	c.(1324-1326)TGC>TGT	p.C442C	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	442	PHD-type 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		GCGGGTTGAGGCAATGCAGGT	0.502													A	6208971	G	A	6208971	2	1	172	1	0	0	0	0	0	0	0	1	3328	1195	42	2		2	CHD5	1	6208971	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1378979	6208971	243041650	9	93121											
PLEKHG5	57449	broad.mit.edu	37	chr1	6534577	6534577	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagggacaggggtgtgttggActggtccaggtagatgtcca	18	6	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:6534577A>T	uc001ano.1	-	7	642	c.541T>A	c.(541-543)TCC>ACC	p.S181T	PLEKHG5_uc001ann.1_Missense_Mutation_p.S162T|PLEKHG5_uc001anq.1_Missense_Mutation_p.S202T|PLEKHG5_uc001anp.1_Missense_Mutation_p.S202T|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.S194T|PLEKHG5_uc001ank.1_Missense_Mutation_p.S125T|PLEKHG5_uc009vmb.1_Missense_Mutation_p.S125T|PLEKHG5_uc001anl.1_Missense_Mutation_p.S125T|PLEKHG5_uc001anm.1_Missense_Mutation_p.S125T	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	181					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)		GGTGTGTTGGACTGGTCCAGG	0.592													T	6534577	A	T	6534577	3	4	172	1	0	0	0	0	1	0	0	0	12073	275	10	5	2711	5	PLEKHG5	1	6534577	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	325606	6534577	242716044	10	93122											
SLC45A1	50651	broad.mit.edu	37	chr1	8384496	8384496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctactcggggtccgtgaCacgacacctcagtcaccggg	14	14	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:8384496C>T	uc001apb.2	+	1	107	c.107C>T	c.(106-108)ACA>ATA	p.T36I		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	36					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	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)		GGGTCCGTGACACGACACCTC	0.682													T	8384496	C	T	8384496	3	4	172	1	0	0	0	0	1	0	0	0	14640	478	17	4	109	4	SLC45A1	1	8384496	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1849919	8384496	240866125	11	93123											
RERE	473	broad.mit.edu	37	chr1	8420006	8420006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaagtacaggtctgtccGggcacacgagttgtagcccc	12	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:8420006G>A	uc001ape.2	-	20	4246	c.3436C>T	c.(3436-3438)CGG>TGG	p.R1146W	RERE_uc001apf.2_Missense_Mutation_p.R1146W|RERE_uc001apd.2_Missense_Mutation_p.R592W	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1146					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			ovary(1)|central_nervous_system(1)	2	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)		AGGTCTGTCCGGGCACACGAG	0.622													A	8420006	G	A	8420006	3	1	172	1	0	0	0	0	1	0	0	0	13231	1115	39	1	1284	1	RERE	1	8420006	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	35510	8420006	240830615	12	93124											
RERE	473	broad.mit.edu	37	chr1	8420317	8420318	+	Frame_Shift_Ins	INS	-	-	C													gtggggagtgggcaggacgaINScccccccgctatgctgcctc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:8420317_8420318insC	uc001ape.2	-	19	4059_4060	c.3249_3250insG	c.(3247-3252)GGGTCGfs	p.G1083fs	RERE_uc001apf.2_Frame_Shift_Ins_p.G1083fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.G815fs|RERE_uc001apd.2_Frame_Shift_Ins_p.G529fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1083_1084	Pro-rich.				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			ovary(1)|central_nervous_system(1)	2	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)		GGGCAGGACGACCCCCCCGCTA	0.718													C	8420318	-	C	8420317	7	5	172	1	0	1	1	0	0	0	0	0	13231	275	10	0	1474	0	RERE	1	8420317	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	311	8420317	240830304	13	93125											
CASZ1	54897	broad.mit.edu	37	chr1	10719759	10719760	+	Splice_Site	INS	-	-	T													ggggtggggagcgccttactINStgacagtggagacggtcccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:10719758_10719759C>CT	uc001aro.3	-	6	1660	c.1340_splice	c.e6+1	p.K447_splice	CASZ1_uc001arp.1_Splice_Site_p.K447_splice|CASZ1_uc009vmx.2_Splice_Site_p.K471_splice|CASZ1_uc001arq.1_Splice_Site_p.K306_splice	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	447					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)		GAGCGCCTTACTTGACAGTGGA	0.604													T	10719760	-	T	10719759	8	5	172	1	0	1	1	0	0	0	1	0	2685	1623	56	0	4007	0	CASZ1	1	10719759	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	2299442	10719759	238530862	14	93126											
TARDBP	23435	broad.mit.edu	37	chr1	11082567	11082567	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggagccaaaccaggccttCggttctggaaataactctta	10	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:11082567C>T	uc001art.2	+	6	1235	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	TARDBP_uc010oap.1_Silent_p.F251F	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	367	Gly-rich.				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			ovary(2)	2	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)		ACCAGGCCTTCGGTTCTGGAA	0.517													T	11082567	C	T	11082567	2	4	172	1	0	0	0	0	0	0	0	1	15554	883	31	1		1	TARDBP	1	11082567	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	362808	11082567	238168054	15	93127											
MTOR	2475	broad.mit.edu	37	chr1	11307756	11307756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttggatcagcgagttcTtgctattcctgcatttcagc	8	10	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:11307756T>C	uc001asd.2	-	8	1272	c.1151A>G	c.(1150-1152)AAG>AGG	p.K384R		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	384					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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CAGCGAGTTCTTGCTATTCCT	0.498													C	11307756	T	C	11307756	3	2	172	1	0	0	0	0	1	0	0	0	9954	1609	56	3	6702	3	MTOR	1	11307756	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	225189	11307756	237942865	16	93128											
CLCN6	1185	broad.mit.edu	37	chr1	11887152	11887152	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcctctcctcagagacaaGagagactttgtatcagcagg	9	11	4	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:11887152G>T	uc001ate.3	+	10	827	c.714G>T	c.(712-714)AAG>AAT	p.K238N	CLCN6_uc009vnf.1_Nonsense_Mutation_p.E242*|CLCN6_uc009vng.1_Intron|CLCN6_uc009vnh.1_Missense_Mutation_p.K238N|CLCN6_uc010oat.1_Intron|CLCN6_uc010oau.1_Missense_Mutation_p.K216N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	238					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	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)		TCAGAGACAAGAGAGACTTTG	0.527													T	11887152	G	T	11887152	3	4	172	1	0	0	0	0	1	0	0	0	3467	943	33	5	762	5	CLCN6	1	11887152	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	579396	11887152	237363469	17	93129											
VPS13D	55187	broad.mit.edu	37	chr1	12337111	12337111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagagaacaaggaactTaccagtctacatatgaacaa	7	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:12337111T>C	uc001atv.2	+	19	3607	c.3466T>C	c.(3466-3468)TAC>CAC	p.Y1156H	VPS13D_uc001atw.2_Missense_Mutation_p.Y1156H|VPS13D_uc001atx.2_Missense_Mutation_p.Y344H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1156					protein localization					ovary(4)|pancreas(1)	5	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)		ACAAGGAACTTACCAGTCTAC	0.378													C	12337111	T	C	12337111	3	2	172	1	0	0	0	0	1	0	0	0	17189	1754	61	3	3536	3	VPS13D	1	12337111	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	449959	12337111	236913510	18	93130											
ZBTB17	7709	broad.mit.edu	37	chr1	16269901	16269901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggggcaggacctcttgcCgcagcgctcgcagacgtagg	17	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:16269901C>A	uc001axl.3	-	12	1929	c.1690G>T	c.(1690-1692)GGC>TGC	p.G564C	ZBTB17_uc010obq.1_Missense_Mutation_p.G481C|ZBTB17_uc010obr.1_Missense_Mutation_p.G564C|ZBTB17_uc010obs.1_Missense_Mutation_p.G488C	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	564	C2H2-type 10.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GACCTCTTGCCGCAGCGCTCG	0.667													A	16269901	C	A	16269901	3	1	172	1	0	0	0	0	1	0	0	0	17524	652	23	5	741	5	ZBTB17	1	16269901	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3932790	16269901	232980720	19	93131											
ZBTB17	7709	broad.mit.edu	37	chr1	16270392	16270392	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccttcaggttccctaccTgtgcccagggaggggtcagg	16	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:16270392T>C	uc001axl.3	-	10	1611	c.1372_splice	c.e10-1	p.V458_splice	ZBTB17_uc010obq.1_Splice_Site_p.V375_splice|ZBTB17_uc010obr.1_Splice_Site_p.V458_splice|ZBTB17_uc010obs.1_Splice_Site_p.V382_splice|ZBTB17_uc010obt.1_3'UTR|ZBTB17_uc010obu.1_3'UTR	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GTTCCCTACCTGTGCCCAGGG	0.652													C	16270392	T	C	16270392	5	2	172	1	0	0	0	0	0	0	1	0	17524	1594	55	3	1069	3	ZBTB17	1	16270392	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	491	16270392	232980229	20	93132											
PADI3	51702	broad.mit.edu	37	chr1	17609341	17609341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccctttggactgcagGtgaacatgctggtgctgggg	15	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:17609341G>A	uc001bai.2	+	16	1802	c.1762G>A	c.(1762-1764)GTG>ATG	p.V588M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	588					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		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)	TGGACTGCAGGTGAACATGCT	0.582													A	17609341	G	A	17609341	3	1	172	1	0	0	0	0	1	0	0	0	11379	1275	44	4	1824	4	PADI3	1	17609341	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1338949	17609341	231641280	21	93133											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808480	18808480	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgcctcgggaggccaAgccggtgacacaaagggtgc	18	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:18808480A>G	uc001bax.2	+	1	1057	c.1005A>G	c.(1003-1005)CAA>CAG	p.Q335Q	KLHDC7A_uc009vpg.2_Silent_p.Q117Q	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	335	Kelch 1.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		CGGGAGGCCAAGCCGGTGACA	0.687													G	18808480	A	G	18808480	2	3	172	1	0	0	0	0	0	0	0	1	8360	69	3	3		3	KLHDC7A	1	18808480	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1199139	18808480	230442141	22	93134											
TAS1R2	80834	broad.mit.edu	37	chr1	19166520	19166520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggactgaggcccgtggccAgcatgccaattaccacaatg	12	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:19166520A>G	uc001bba.1	-	6	2094	c.2093T>C	c.(2092-2094)CTG>CCG	p.L698P		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	698	Helical; Name=4; (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	GCCCGTGGCCAGCATGCCAAT	0.557													G	19166520	A	G	19166520	3	3	172	1	0	0	0	0	1	0	0	0	15560	188	7	3	430	3	TAS1R2	1	19166520	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	358040	19166520	230084101	23	93135											
UBR4	23352	broad.mit.edu	37	chr1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-													tcaggtgggatgtccagcatGggggggaagccctctgcgcc					rs145307465		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:19467923delG	uc001bbi.2	-	57	8410	c.8406delC	c.(8404-8406)CCCfs	p.P2802fs	UBR4_uc001bbk.1_Frame_Shift_Del_p.P484fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2802					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		TGTCCAGCATGGGGGGGAAGC	0.587													-	19467923	G	-	19467923	7	5	172	1	0	1	0	1	0	0	0	0	16901	1335	47	0	7345	0	UBR4	1	19467923	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	301403	19467923	229782698	24	93136											
NBL1	4681	broad.mit.edu	37	chr1	19983449	19983449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgccaggcctgcggcAaggagcctagtcacgagggg	17	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:19983449A>G	uc001bck.1	+	4	525	c.370A>G	c.(370-372)AAG>GAG	p.K124E	NBL1_uc009vpl.1_Missense_Mutation_p.K125E|NBL1_uc001bcj.1_Missense_Mutation_p.K160E|NBL1_uc009vpm.1_Missense_Mutation_p.K125E	NM_005380	NP_005371	P41271	NBL1_HUMAN	neuroblastoma, suppression of tumorigenicity 1 2	124						extracellular region				ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGCGGCAAGGAGCCTAG	0.577													G	19983449	A	G	19983449	3	3	172	1	0	0	0	0	1	0	0	0	10190	131	5	3	492	3	NBL1	1	19983449	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	515526	19983449	229267172	25	93137											
HSPG2	3339	broad.mit.edu	37	chr1	22179477	22179477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtgggcctgcccggGcaccacgcagttcagatcca	14	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:22179477G>A	uc001bfj.2	-	51	6566	c.6526C>T	c.(6526-6528)CCC>TCC	p.P2176S	HSPG2_uc009vqd.2_Missense_Mutation_p.P2177S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2176	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	GCCTGCCCGGGCACCACGCAG	0.716													A	22179477	G	A	22179477	3	1	172	1	0	0	0	0	1	0	0	0	7430	1203	42	2	6837	2	HSPG2	1	22179477	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2196028	22179477	227071144	26	93138											
E2F2	1870	broad.mit.edu	37	chr1	23845552	23845552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtctgcggaggggcctTgacggcaatcactgtctgct	13	12	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:23845552T>C	uc001bhe.1	-	5	1236	c.808A>G	c.(808-810)AAG>GAG	p.K270E		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	270	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGAGGGGCCTTGACGGCAATC	0.557													C	23845552	T	C	23845552	3	2	172	1	0	0	0	0	1	0	0	0	4867	1821	63	3	517	3	E2F2	1	23845552	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1666075	23845552	225405069	27	93139											
ARID1A	8289	broad.mit.edu	37	chr1	27023769	27023769	+	Frame_Shift_Del	DEL	C	C	-													aactccccagcccaccgccaCccccaccctcaaccaactgc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:27023769delC	uc001bmv.1	+	1	1248	c.875delC	c.(874-876)ACCfs	p.T292fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.T292fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T292fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	292					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CCCACCGCCACCCCCACCCTC	0.761			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27023769	C	-	27023769	7	5	172	1	0	1	0	1	0	0	0	0	913	507	18	0	877	0	ARID1A	1	27023769	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	3178217	27023769	222226852	28	93140											
CSMD2	114784	broad.mit.edu	37	chr1	34166229	34166229	+	Frame_Shift_Del	DEL	A	A	-													cccatcatctcagaatggctAaaaactcccagcaaacgggc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:34166228_34166228TA>T	uc001bxm.1	-	22	3799	c.3622_3622TA>A	c.(3622-3624)agcfs	p.S1208fs	CSMD2_uc001bxn.1_Frame_Shift_Del_p.S1168fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.S81fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1168						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)				TCAGAATGGCTAAAAACTCCC	0.493													-	34166229	A	-	34166229	7	5	172	1	0	1	0	1	0	0	0	0	3945	359	13	0	7150	0	CSMD2	1	34166229	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	7142460	34166229	215084392	29	93141											
EIF2C1	26523	broad.mit.edu	37	chr1	36358858	36358858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccctggatgtggccaTgaggcacctggcatccatga	13	12	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:36358858T>C	uc001bzl.2	+	4	704	c.491T>C	c.(490-492)ATG>ACG	p.M164T	EIF2C1_uc001bzk.2_Missense_Mutation_p.M89T|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	164					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGTGGCCATGAGGCACCTG	0.562													C	36358858	T	C	36358858	3	2	172	1	0	0	0	0	1	0	0	0	5005	1464	51	3	505	3	EIF2C1	1	36358858	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2192629	36358858	212891763	30	93142											
MRPS15	64960	broad.mit.edu	37	chr1	36921835	36921835	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcggcggtgggctcttcGgtaatacagaggggggaagg	19	6	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:36921835G>A	uc001cas.2	-	7	753	c.589C>T	c.(589-591)CGA>TGA	p.R197*		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	197					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGGCTCTTCGGTAATACAGA	0.522													A	36921835	G	A	36921835	4	1	172	1	0	0	0	0	0	1	0	0	9825	1124	39	1	192	1	MRPS15	1	36921835	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	562977	36921835	212328786	31	93143											
CSF3R	1441	broad.mit.edu	37	chr1	36938264	36938264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctggggtccatggtccGcagcatggggggctccagtt	18	10	0	0	rs150616658		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:36938264G>A	uc001caw.1	-	7	875	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.R233W|CSF3R_uc001cax.1_Missense_Mutation_p.R233W|CSF3R_uc001cay.1_Missense_Mutation_p.R233W	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	233	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCATGGTCCGCAGCATGGGG	0.627													A	36938264	G	A	36938264	3	1	172	1	0	0	0	0	1	0	0	0	3937	1086	38	1	2047	1	CSF3R	1	36938264	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	16429	36938264	212312357	32	93144											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948445	37948445	+	Frame_Shift_Del	DEL	C	C	-													gtgccaatgctctcctctcaCcccccagagccccaagcaag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:37948444_37948444AC>A	uc001cbb.4	+	5	1182	c.1032_1032AC>A	c.(1030-1032)tcafs	p.S344fs	ZC3H12A_uc001cbc.1_Frame_Shift_Del_p.S139fs	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	344					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	p.S344P(1)		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)				CTCTCCTCTCACCCCCCAGAG	0.597													-	37948445	C	-	37948445	7	5	172	1	0	1	0	1	0	0	0	0	17558	507	18	0	1051	0	ZC3H12A	1	37948445	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	1010181	37948445	211302176	33	93145											
MACF1	23499	broad.mit.edu	37	chr1	39844153	39844153	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttccatactgccctctgtaGgaagctctgtaggcagtgta	11	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:39844153G>T	uc010oiu.1	+	17	8685	c.8554G>T	c.(8554-8556)GGA>TGA	p.G2852*	MACF1_uc010ois.1_Nonsense_Mutation_p.G2350*|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4417				SILPSVG -> EYRLFKI (in Ref. 5; BAA86565).	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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GCCCTCTGTAGGAAGCTCTGT	0.468													T	39844153	G	T	39844153	4	4	172	1	0	0	0	0	0	1	0	0	9144	1001	35	5	13389	5	MACF1	1	39844153	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1895708	39844153	209406468	34	93146											
KIAA0754	643314	broad.mit.edu	37	chr1	39876405	39876405	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctcagtgaggtttcAgaagctggtgcttcaaatcc	10	10	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:39876405A>G	uc009vvt.1	+	1	1230	c.468A>G	c.(466-468)TCA>TCG	p.S156S	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	20											0	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)			GTGAGGTTTCAGAAGCTGGTG	0.463													G	39876405	A	G	39876405	2	3	172	1	0	0	0	0	0	0	0	1	8192	175	7	3		3	KIAA0754	1	39876405	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	32252	39876405	209374216	35	93147											
HPCAL4	51440	broad.mit.edu	37	chr1	40149624	40149624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctcgatgatctccagCatctccaggcgcgtgatgcg	11	15	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40149624C>T	uc001cdr.2	-	3	483	c.363G>A	c.(361-363)ATG>ATA	p.M121I	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	121	EF-hand 3.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-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;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)			TGATCTCCAGCATCTCCAGGC	0.701													T	40149624	C	T	40149624	3	4	172	1	0	0	0	0	1	0	0	0	7331	710	25	2	220	2	HPCAL4	1	40149624	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	273219	40149624	209100997	36	93148											
TRIT1	54802	broad.mit.edu	37	chr1	40309854	40309854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgttctcagcttcattgtAtggcatctttattggagtgg	10	7	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40309854A>G	uc010oiz.1	-	10	1167	c.1153T>C	c.(1153-1155)TAC>CAC	p.Y385H	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.Y81H|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.Y139H|TRIT1_uc001ceh.3_Missense_Mutation_p.Y139H|TRIT1_uc009vvv.2_Missense_Mutation_p.Y218H|TRIT1_uc001cei.3_Missense_Mutation_p.Y139H|TRIT1_uc001ceq.2_Missense_Mutation_p.Y81H|TRIT1_uc001cek.2_Missense_Mutation_p.Y81H|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.Y303H|TRIT1_uc001cen.2_Missense_Mutation_p.Y139H|TRIT1_uc001ceo.2_Missense_Mutation_p.Y139H|TRIT1_uc001cep.2_Missense_Mutation_p.Y139H	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	385					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-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;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCTTCATTGTATGGCATCTTT	0.448													G	40309854	A	G	40309854	3	3	172	1	0	0	0	0	1	0	0	0	16557	449	16	3	258	3	TRIT1	1	40309854	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	160230	40309854	208940767	37	93149											
TRIT1	54802	broad.mit.edu	37	chr1	40312897	40312897	+	Frame_Shift_Del	DEL	A	A	-													aaacatgagacttactgctcAaaaaacggtttttaacccat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40312897delA	uc010oiz.1	-	8	1015	c.1001delT	c.(1000-1002)TTGfs	p.L334fs	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Frame_Shift_Del_p.L30fs|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceh.3_Frame_Shift_Del_p.L88fs|TRIT1_uc009vvv.2_Intron|TRIT1_uc001cei.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceq.2_Frame_Shift_Del_p.L30fs|TRIT1_uc001cek.2_Frame_Shift_Del_p.L30fs|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Frame_Shift_Del_p.L252fs|TRIT1_uc001cen.2_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceo.2_Frame_Shift_Del_p.L88fs|TRIT1_uc001cep.2_Frame_Shift_Del_p.L88fs	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	334					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-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;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTACTGCTCAAAAAACGGTT	0.368													-	40312897	A	-	40312897	7	5	172	1	0	1	0	1	0	0	0	0	16557	131	5	0	418	0	TRIT1	1	40312897	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	3043	40312897	208937724	38	93150											
ZNF642	339559	broad.mit.edu	37	chr1	40961584	40961584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaaagcctataggcaTgattcatcctttaaaaaaca	7	7	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:40961584T>C	uc001cfo.2	+	6	1728	c.1434T>C	c.(1432-1434)CAT>CAC	p.H478H	ZNF642_uc009vwb.2_Silent_p.H478H|ZNF642_uc010ojk.1_Silent_p.H479H	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	478	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;8.81e-19)			CCTATAGGCATGATTCATCCT	0.398													C	40961584	T	C	40961584	2	2	172	1	0	0	0	0	0	0	0	1	18055	1461	51	3		3	ZNF642	1	40961584	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	648687	40961584	208289037	39	93151											
LEPRE1	64175	broad.mit.edu	37	chr1	43224593	43224593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagggcttctctcgactTgggtgggaagcaagctccgt	13	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43224593T>C	uc001chv.2	-	4	983	c.870A>G	c.(868-870)CCA>CCG	p.P290P	LEPRE1_uc001chw.2_Silent_p.P290P|LEPRE1_uc001chx.3_Silent_p.P290P	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	290					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			ovary(3)|lung(1)	4	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)	TCTCTCGACTTGGGTGGGAAG	0.443													C	43224593	T	C	43224593	2	2	172	1	0	0	0	0	0	0	0	1	8729	1799	63	3		3	LEPRE1	1	43224593	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2263009	43224593	206026028	40	93152											
ZNF691	51058	broad.mit.edu	37	chr1	43317265	43317265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagctccagctttggCgtgcatcaccgcacccacac	8	17	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43317265C>T	uc001cih.2	+	2	768	c.717C>T	c.(715-717)GGC>GGT	p.G239G	ZNF691_uc001cig.2_Silent_p.G212G|ZNF691_uc009vwm.2_Silent_p.G232G	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	243	C2H2-type 5.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGCTTTGGCGTGCATCACC	0.587													T	43317265	C	T	43317265	2	4	172	1	0	0	0	0	0	0	0	1	18093	755	27	1		1	ZNF691	1	43317265	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	92672	43317265	205933356	41	93153											
ELOVL1	64834	broad.mit.edu	37	chr1	43829798	43829798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgcagtgagaccaggAcaaactggatctaggataga	13	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43829798A>G	uc001ciz.2	-	9	872	c.629T>C	c.(628-630)GTC>GCC	p.V210A	ELOVL1_uc001cja.2_Missense_Mutation_p.V210A|ELOVL1_uc001cjb.2_Missense_Mutation_p.V210A|ELOVL1_uc001cjc.2_RNA|ELOVL1_uc010okh.1_Missense_Mutation_p.V183A	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	elongation of very long chain fatty acids-like	210	Helical; (Potential).				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGACCAGGACAAACTGGAT	0.478													G	43829798	A	G	43829798	3	3	172	1	0	0	0	0	1	0	0	0	5073	275	10	3	214	3	ELOVL1	1	43829798	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	512533	43829798	205420823	42	93154											
KIAA0467	23334	broad.mit.edu	37	chr1	43896402	43896402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcacctcacgtgctcCgtgcggctacgtgggcagca	12	15	1	0	rs147043685		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:43896402C>T	uc001cjk.1	+	17	2481	c.2019C>T	c.(2017-2019)TCC>TCT	p.S673S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1572						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCACGTGCTCCGTGCGGCTAC	0.607													T	43896402	C	T	43896402	2	4	172	1	0	0	0	0	0	0	0	1	8178	639	23	1		1	KIAA0467	1	43896402	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	66604	43896402	205354219	43	93155											
KDM4A	9682	broad.mit.edu	37	chr1	44163664	44163664	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggctccttcagcgacaatCtttatcctgaggacatagtg	9	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44163664C>T	uc001cjx.2	+	19	2987	c.2821C>T	c.(2821-2823)CTT>TTT	p.L941F	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	941	Tudor 1.				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			skin(1)	1						CAGCGACAATCTTTATCCTGA	0.488													T	44163664	C	T	44163664	3	4	172	1	0	0	0	0	1	0	0	0	8128	913	32	4	2891	4	KDM4A	1	44163664	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	267262	44163664	205086957	44	93156											
IPO13	9670	broad.mit.edu	37	chr1	44415386	44415386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggctgtgcgtggcactgGcctcactggctctcagcatg	13	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44415386G>A	uc001ckx.2	+	2	1177	c.382G>A	c.(382-384)GCC>ACC	p.A128T		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	128					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CGTGGCACTGGCCTCACTGGC	0.572													A	44415386	G	A	44415386	3	1	172	1	0	0	0	0	1	0	0	0	7794	1203	42	2	388	2	IPO13	1	44415386	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	251722	44415386	204835235	45	93157											
DPH2	1802	broad.mit.edu	37	chr1	44437275	44437275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagaccttgacccagaccTgagtcggctgctcttggggt	12	14	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44437275T>C	uc001ckz.2	+	4	896	c.701T>C	c.(700-702)CTG>CCG	p.L234P	DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.L99P|DPH2_uc001clb.2_Missense_Mutation_p.L158P	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	234					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACCCAGACCTGAGTCGGCTG	0.627													C	44437275	T	C	44437275	3	2	172	1	0	0	0	0	1	0	0	0	4720	1580	55	3	715	3	DPH2	1	44437275	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	21889	44437275	204813346	46	93158											
B4GALT2	8704	broad.mit.edu	37	chr1	44447558	44447558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacaccccatcttgaggCggcagcggctgcgctacggc	12	15	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44447558C>T	uc001clg.2	+	3	881	c.511C>T	c.(511-513)CGG>TGG	p.R171W	B4GALT2_uc001clh.2_Missense_Mutation_p.R105W|B4GALT2_uc010okl.1_Missense_Mutation_p.R200W|B4GALT2_uc001cli.2_Missense_Mutation_p.R171W	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	171	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CATCTTGAGGCGGCAGCGGCT	0.612													T	44447558	C	T	44447558	3	4	172	1	0	0	0	0	1	0	0	0	1271	759	27	1	517	1	B4GALT2	1	44447558	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	10283	44447558	204803063	47	93159											
DMAP1	55929	broad.mit.edu	37	chr1	44684858	44684858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcagagcagcggcgcaCggaacgcaaggcccccaaaa	12	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:44684858C>T	uc001clq.1	+	7	931	c.851C>T	c.(850-852)ACG>ATG	p.T284M	DMAP1_uc001clr.1_Missense_Mutation_p.T284M|DMAP1_uc001cls.1_Missense_Mutation_p.T284M|DMAP1_uc010oku.1_Missense_Mutation_p.T274M	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	284					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				0	Acute lymphoblastic leukemia(166;0.155)					CAGCGGCGCACGGAACGCAAG	0.622													T	44684858	C	T	44684858	3	4	172	1	0	0	0	0	1	0	0	0	4576	536	19	1	873	1	DMAP1	1	44684858	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	237300	44684858	204565763	48	93160											
KIF2C	11004	broad.mit.edu	37	chr1	45218915	45218915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctcttctgcaaaccCtgtgaactcaggtagacaca	9	12	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:45218915C>A	uc001cmg.3	+	6	666	c.551C>A	c.(550-552)CCT>CAT	p.P184H	KIF2C_uc010olb.1_Intron|KIF2C_uc010olc.1_Missense_Mutation_p.P71H|KIF2C_uc001cmh.3_Missense_Mutation_p.P130H	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	184	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCTGCAAACCCTGTGAACTCA	0.527													A	45218915	C	A	45218915	3	1	172	1	0	0	0	0	1	0	0	0	8299	681	24	5	573	5	KIF2C	1	45218915	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	534057	45218915	204031706	49	93161											
ZSWIM5	57643	broad.mit.edu	37	chr1	45504669	45504669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtcaaagtgagaaacagGcagtcgatgggatccagggg	15	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:45504669G>A	uc001cnd.2	-	8	2061	c.1833C>T	c.(1831-1833)TGC>TGT	p.C611C		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	611							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TGAGAAACAGGCAGTCGATGG	0.537													A	45504669	G	A	45504669	2	1	172	1	0	0	0	0	0	0	0	1	18241	1195	42	2		2	ZSWIM5	1	45504669	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	285754	45504669	203745952	50	93162											
GPBP1L1	60313	broad.mit.edu	37	chr1	46094046	46094046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactggaactgcggctctgcAagaagccattctttccaaag	10	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:46094046A>G	uc001coq.2	-	13	2668	c.1307T>C	c.(1306-1308)TTG>TCG	p.L436S	GPBP1L1_uc001coo.2_Missense_Mutation_p.L180S	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCGGCTCTGCAAGAAGCCATT	0.443													G	46094046	A	G	46094046	3	3	172	1	0	0	0	0	1	0	0	0	6596	131	5	3	121	3	GPBP1L1	1	46094046	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	589377	46094046	203156575	51	93163											
GPBP1L1	60313	broad.mit.edu	37	chr1	46095321	46095321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattctcatcattttcaggaTattcctgccaacccatagct	4	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:46095321T>C	uc001coq.2	-	12	2560	c.1199A>G	c.(1198-1200)TAT>TGT	p.Y400C	GPBP1L1_uc001coo.2_Missense_Mutation_p.Y144C	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					ATTTTCAGGATATTCCTGCCA	0.443													C	46095321	T	C	46095321	3	2	172	1	0	0	0	0	1	0	0	0	6596	1406	49	3	233	3	GPBP1L1	1	46095321	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1275	46095321	203155300	52	93164											
MAST2	23139	broad.mit.edu	37	chr1	46500422	46500422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaacagcttcacctcagCggtccccatcgcccctgtct	6	21	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:46500422C>T	uc001cov.2	+	29	4364	c.4081C>T	c.(4081-4083)CGG>TGG	p.R1361W	MAST2_uc001cow.2_Missense_Mutation_p.R1360W|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1361					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTCACCTCAGCGGTCCCCATC	0.642													T	46500422	C	T	46500422	3	4	172	1	0	0	0	0	1	0	0	0	9325	759	27	1	4195	1	MAST2	1	46500422	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	405101	46500422	202750199	53	93165											
CYP4Z1	199974	broad.mit.edu	37	chr1	47571852	47571852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcatcaaggaatgcctcCgcctctacgcaccggtagta	10	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:47571852C>T	uc001cqu.1	+	9	1123	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	374	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						GGAATGCCTCCGCCTCTACGC	0.493													T	47571852	C	T	47571852	3	4	172	1	0	0	0	0	1	0	0	0	4194	652	23	1	1154	1	CYP4Z1	1	47571852	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1071430	47571852	201678769	54	93166											
ELAVL4	1996	broad.mit.edu	37	chr1	50663114	50663114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaggctggacaatttgCttaatatggcctatggcgta	11	7	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:50663114C>T	uc001csb.2	+	6	1016	c.748C>T	c.(748-750)CTT>TTT	p.L250F	ELAVL4_uc001cry.3_Missense_Mutation_p.L253F|ELAVL4_uc001crz.3_Missense_Mutation_p.L250F|ELAVL4_uc001csa.3_Missense_Mutation_p.L267F|ELAVL4_uc001csc.3_Missense_Mutation_p.L250F|ELAVL4_uc009vyu.2_Missense_Mutation_p.L255F|ELAVL4_uc010omz.1_Missense_Mutation_p.L255F	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	250					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGACAATTTGCTTAATATGGC	0.408													T	50663114	C	T	50663114	3	4	172	1	0	0	0	0	1	0	0	0	5052	797	28	2	869	2	ELAVL4	1	50663114	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3091262	50663114	198587507	55	93167											
TTC39A	22996	broad.mit.edu	37	chr1	51771659	51771659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcactcaccaggttgaagGcccctacaccaagcttcact	8	15	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:51771659G>A	uc001csl.2	-	7	791	c.686C>T	c.(685-687)GCC>GTC	p.A229V	TTC39A_uc001csk.2_Missense_Mutation_p.A194V|TTC39A_uc010ond.1_Missense_Mutation_p.A166V|TTC39A_uc010one.1_Missense_Mutation_p.A193V|TTC39A_uc010onf.1_Missense_Mutation_p.A197V|TTC39A_uc001csn.2_Missense_Mutation_p.A228V|TTC39A_uc001cso.1_Missense_Mutation_p.A225V|TTC39A_uc009vyy.1_Missense_Mutation_p.A166V	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	229							binding			skin(1)	1						CAGGTTGAAGGCCCCTACACC	0.562													A	51771659	G	A	51771659	3	1	172	1	0	0	0	0	1	0	0	0	16704	1203	42	2	1203	2	TTC39A	1	51771659	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1108545	51771659	197478962	56	93168											
OSBPL9	114883	broad.mit.edu	37	chr1	52179678	52179678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatcttttattccagcccGtgatgctgatgagcgagaga	10	8	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:52179678G>A	uc001cst.2	+	4	264	c.245G>A	c.(244-246)CGT>CAT	p.R82H	OSBPL9_uc001css.2_Missense_Mutation_p.R100H|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.R83H|OSBPL9_uc001csu.2_Missense_Mutation_p.R82H|OSBPL9_uc001csv.2_Translation_Start_Site|OSBPL9_uc001csw.2_Missense_Mutation_p.R82H	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	82	PH.				lipid transport		lipid binding			central_nervous_system(1)	1						ATTCCAGCCCGTGATGCTGAT	0.328													A	52179678	G	A	52179678	3	1	172	1	0	0	0	0	1	0	0	0	11284	1145	40	1	259	1	OSBPL9	1	52179678	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	408019	52179678	197070943	57	93169											
LRRC42	115353	broad.mit.edu	37	chr1	54433549	54433549	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaataactcttcacaAccttcaaagcagaaatatgt	5	9	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:54433549A>G	uc001cwj.1	+	8	1424	c.1224A>G	c.(1222-1224)CAA>CAG	p.Q408Q	LRRC42_uc001cwl.1_Silent_p.Q408Q|LRRC42_uc001cwk.1_Silent_p.Q408Q|LRRC42_uc009vzm.1_Silent_p.Q404Q	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	408											0						ACTCTTCACAACCTTCAAAGC	0.433													G	54433549	A	G	54433549	2	3	172	1	0	0	0	0	0	0	0	1	9000	40	2	3		3	LRRC42	1	54433549	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2253871	54433549	194817072	58	93170											
DHCR24	1718	broad.mit.edu	37	chr1	55337114	55337114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccacgaagtggttctccTgccgctgggactcgtgggtg	14	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:55337114T>C	uc001cyc.1	-	5	914	c.785A>G	c.(784-786)CAG>CGG	p.Q262R	DHCR24_uc010ooj.1_Missense_Mutation_p.Q124R|DHCR24_uc010ook.1_Missense_Mutation_p.Q221R	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	262					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			pancreas(1)	1						GTGGTTCTCCTGCCGCTGGGA	0.582													C	55337114	T	C	55337114	3	2	172	1	0	0	0	0	1	0	0	0	4476	1580	55	3	785	3	DHCR24	1	55337114	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	903565	55337114	193913507	59	93171											
USP24	23358	broad.mit.edu	37	chr1	55624658	55624658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagatccggttggaagcGcatgcaaagtaacttaacgg	11	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:55624658G>A	uc001cyg.3	-	9	784	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	374					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GGTTGGAAGCGCATGCAAAGT	0.378													A	55624658	G	A	55624658	3	1	172	1	0	0	0	0	1	0	0	0	17052	1087	38	1	6978	1	USP24	1	55624658	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	287544	55624658	193625963	60	93172											
PRKAA2	5563	broad.mit.edu	37	chr1	57173341	57173341	+	Frame_Shift_Del	DEL	T	T	-													ctgggcagtcacaccatggaTttttttgaaatgtgtgccag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:57173340_57173340AT>A	uc001cyk.4	+	8	1684	c.1613_1613AT>A	c.(1612-1614)gatfs	p.D538fs		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	538					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	p.E541fs*1(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CACACCATGGATTTTTTTGAA	0.423													-	57173341	T	-	57173341	7	5	172	1	0	1	0	1	0	0	0	0	12494	1490	52	0	1648	0	PRKAA2	1	57173341	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1548683	57173341	192077280	61	93173											
MYSM1	114803	broad.mit.edu	37	chr1	59126870	59126870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtcaggtcagaatccCggcgaaagattttatccatg	9	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:59126870C>T	uc009wab.1	-	19	2323	c.2300G>A	c.(2299-2301)CGG>CAG	p.R767Q	uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.R173Q|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	767					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			skin(1)	1	all_cancers(7;9.36e-06)					GTCAGAATCCCGGCGAAAGAT	0.363													T	59126870	C	T	59126870	3	4	172	1	0	0	0	0	1	0	0	0	10101	652	23	1	194	1	MYSM1	1	59126870	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1953529	59126870	190123751	62	93174											
MIER1	57708	broad.mit.edu	37	chr1	67436605	67436605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagaagggtgtagaagCaattcctgaaggatctcaca	12	6	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:67436605C>T	uc001dde.2	+	9	1021	c.887C>T	c.(886-888)GCA>GTA	p.A296V	MIER1_uc010opf.1_Missense_Mutation_p.A260V|MIER1_uc009way.2_Missense_Mutation_p.A260V|MIER1_uc001ddc.2_Missense_Mutation_p.A296V|MIER1_uc001ddh.2_Missense_Mutation_p.A180V|MIER1_uc001ddf.2_Missense_Mutation_p.A260V|MIER1_uc001ddg.2_Missense_Mutation_p.A216V|MIER1_uc010opg.1_Missense_Mutation_p.A260V|MIER1_uc001ddj.1_Missense_Mutation_p.A243V|MIER1_uc001ddi.2_Missense_Mutation_p.A243V	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	267	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GGTGTAGAAGCAATTCCTGAA	0.383													T	67436605	C	T	67436605	3	4	172	1	0	0	0	0	1	0	0	0	9580	710	25	2	998	2	MIER1	1	67436605	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	8309735	67436605	181814016	63	93175											
PTGER3	5733	broad.mit.edu	37	chr1	71512898	71512898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccgacgggtcgatgtgCtcccaacgctgcttggacag	13	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:71512898C>T	uc001dfg.1	-	1	594	c.363G>A	c.(361-363)GAG>GAA	p.E121E	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.E121E|PTGER3_uc001dfl.1_Silent_p.E121E|PTGER3_uc009wbm.1_Silent_p.E121E|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.E121E|PTGER3_uc009wbn.1_Silent_p.E121E|PTGER3_uc009wbo.2_Silent_p.E121E|PTGER3_uc001dfo.2_Silent_p.E121E|PTGER3_uc001dfp.1_Silent_p.E121E|PTGER3_uc001dfq.2_Silent_p.E121E|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	121	Extracellular (Potential).				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			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	GGTCGATGTGCTCCCAACGCT	0.642													T	71512898	C	T	71512898	2	4	172	1	0	0	0	0	0	0	0	1	12744	796	28	2		2	PTGER3	1	71512898	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4076293	71512898	177737723	64	93176											
SLC44A5	204962	broad.mit.edu	37	chr1	75693519	75693519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcctgaagattggtgtActgctggtaacagtgccata	12	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:75693519A>G	uc001dgu.2	-	13	1021	c.877T>C	c.(877-879)TAC>CAC	p.Y293H	SLC44A5_uc001dgt.2_Missense_Mutation_p.Y293H|SLC44A5_uc001dgs.2_Missense_Mutation_p.Y251H|SLC44A5_uc001dgr.2_Missense_Mutation_p.Y251H|SLC44A5_uc010oqz.1_Missense_Mutation_p.Y332H|SLC44A5_uc010ora.1_Missense_Mutation_p.Y287H|SLC44A5_uc010orb.1_Missense_Mutation_p.Y163H	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	293	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						AGATTGGTGTACTGCTGGTAA	0.343													G	75693519	A	G	75693519	3	3	172	1	0	0	0	0	1	0	0	0	14639	391	14	3	1441	3	SLC44A5	1	75693519	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4180621	75693519	173557102	65	93177											
ELTD1	64123	broad.mit.edu	37	chr1	79383320	79383320	+	Missense_Mutation	SNP	A	A	G													caattttatatatacatacaAgaatgattaggcatgctggt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:79383320A>G	uc001diq.3	-	12	1904	c.1748T>C	c.(1747-1749)CTT>CCT	p.L583P		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	583	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATACATACAAGAATGATTAG	0.274													G	79383320	A	G	79383320	3	3	172	1	0	0	0	0	1	0	0	0	5084	86	3	3	340	3	ELTD1	1	79383320	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3689801	79383320	169867301	66	93178	450	2									
ELTD1	64123	broad.mit.edu	37	chr1	79383329	79383329	+	Missense_Mutation	SNP	A	A	T													atatacatacaagaatgattAggcatgctggtcctataaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:79383329A>T	uc001diq.3	-	12	1895	c.1739T>A	c.(1738-1740)CTA>CAA	p.L580Q		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	580	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGAATGATTAGGCATGCTGG	0.284													T	79383329	A	T	79383329	3	4	172	1	0	0	0	0	1	0	0	0	5084	420	15	5	349	5	ELTD1	1	79383329	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	9	79383329	169867292	67	93179	450	2									
CCBL2	56267	broad.mit.edu	37	chr1	89408688	89408688	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatagagcagggaacttacTttaatgaagcaaaaacgcac	8	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:89408688T>C	uc001dmp.2	-	13	1679	c.1302A>G	c.(1300-1302)AAA>AAG	p.K434K	CCBL2_uc001dmq.2_Silent_p.K400K|CCBL2_uc001dmr.2_Silent_p.K270K	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	434					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			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGAACTTACTTTAATGAAGC	0.308													C	89408688	T	C	89408688	2	2	172	1	0	0	0	0	0	0	0	1	2733	1623	56	3		3	CCBL2	1	89408688	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	10025359	89408688	159841933	68	93180											
LRRC8D	55144	broad.mit.edu	37	chr1	90399962	90399962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagttagtgaaaataaActtagggaaattagtttgaa	9	2	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:90399962A>G	uc001dnm.2	+	3	1760	c.1335A>G	c.(1333-1335)AAA>AAG	p.K445K	LRRC8D_uc001dnn.2_Silent_p.K445K	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	445						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTGAAAATAAACTTAGGGAAA	0.418													G	90399962	A	G	90399962	2	3	172	1	0	0	0	0	0	0	0	1	9024	40	2	3		3	LRRC8D	1	90399962	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	991274	90399962	158850659	69	93181											
MTF2	22823	broad.mit.edu	37	chr1	93602519	93602519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaataccgagttttggcaCgtcgggtgacacttgatgga	12	7	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:93602519C>T	uc009wdj.2	+	15	2009	c.1717C>T	c.(1717-1719)CGT>TGT	p.R573C	MTF2_uc010oth.1_Missense_Mutation_p.R471C|MTF2_uc009wdk.2_Missense_Mutation_p.R516C|MTF2_uc001dpi.3_Missense_Mutation_p.R300C|MTF2_uc010oti.1_Missense_Mutation_p.R471C|MTF2_uc001dpj.3_Missense_Mutation_p.R471C|MTF2_uc001dpl.3_Missense_Mutation_p.R471C|MTF2_uc001dpm.3_Missense_Mutation_p.R242C	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	573						nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		AGTTTTGGCACGTCGGGTGAC	0.443													T	93602519	C	T	93602519	3	4	172	1	0	0	0	0	1	0	0	0	9923	536	19	1	1775	1	MTF2	1	93602519	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3202557	93602519	155648102	70	93182											
GCLM	2730	broad.mit.edu	37	chr1	94360237	94360237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcagtcaaatctggtggCatcacacagcaggaggcaag	12	9	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:94360237C>T	uc001dqg.1	-	6	881	c.588G>A	c.(586-588)ATG>ATA	p.M196I		NM_002061	NP_002052	P48507	GSH0_HUMAN	glutamate-cysteine ligase regulatory protein	196					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			ovary(1)	1		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATCTGGTGGCATCACACAGC	0.318													T	94360237	C	T	94360237	3	4	172	1	0	0	0	0	1	0	0	0	6296	710	25	2	244	2	GCLM	1	94360237	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	757718	94360237	154890384	71	93183											
PTBP2	58155	broad.mit.edu	37	chr1	97250755	97250755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctggggatggacaAcctgcattggacccagctat	10	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:97250755A>G	uc001drq.2	+	8	1095	c.849A>G	c.(847-849)CAA>CAG	p.Q283Q	PTBP2_uc001drn.2_Silent_p.Q283Q|PTBP2_uc001dro.2_Silent_p.Q283Q|PTBP2_uc010otz.1_Silent_p.Q294Q|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.Q231Q|PTBP2_uc001drr.2_Silent_p.Q283Q|PTBP2_uc010oua.1_Silent_p.Q291Q|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	283							nucleotide binding				0		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)		GGGATGGACAACCTGCATTGG	0.383													G	97250755	A	G	97250755	2	3	172	1	0	0	0	0	0	0	0	1	12726	40	2	3		3	PTBP2	1	97250755	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2890518	97250755	151999866	72	93184											
WDR47	22911	broad.mit.edu	37	chr1	109525279	109525279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctctttgacaatcggTtgtataaatgttacaatccc	6	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:109525279T>C	uc001dwj.2	-	12	2594	c.2218A>G	c.(2218-2220)ACC>GCC	p.T740A	WDR47_uc001dwl.2_Missense_Mutation_p.T748A|WDR47_uc001dwi.2_Missense_Mutation_p.T741A|WDR47_uc010ovf.1_Missense_Mutation_p.T665A	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	740	WD 3.									ovary(1)	1		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)		TGACAATCGGTTGTATAAATG	0.413													C	109525279	T	C	109525279	3	2	172	1	0	0	0	0	1	0	0	0	17297	1725	60	3	557	3	WDR47	1	109525279	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	12274524	109525279	139725342	73	93185											
LIX1L	128077	broad.mit.edu	37	chr1	145487432	145487432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttatgtctgctatgtcAccctgcctgggggaagctgc	11	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:145487432A>G	uc001enr.2	+	2	495	c.421A>G	c.(421-423)ACC>GCC	p.T141A	NBPF10_uc001emp.3_Intron	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse) like	141										ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCTATGTCACCCTGCCTGG	0.507													G	145487432	A	G	145487432	3	3	172	1	0	0	0	0	1	0	0	0	8832	159	6	3	427	3	LIX1L	1	145487432	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	35962153	145487432	103763189	74	93186											
POLR3C	10623	broad.mit.edu	37	chr1	145606365	145606365	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccttttacctttcccTgccaaacaaacaattaaaca	1	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:145606365T>C	uc001eoh.2	-	5	751	c.590_splice	c.e5-1	p.G197_splice	NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Splice_Site_p.G210_splice|POLR3C_uc001eoi.2_Splice_Site|POLR3C_uc009wix.2_Splice_Site_p.G197_splice	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide						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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TACCTTTCCCTGCCAAACAAA	0.423													C	145606365	T	C	145606365	5	2	172	1	0	0	0	0	0	0	1	0	12230	1594	55	3	1060	3	POLR3C	1	145606365	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	118933	145606365	103644256	75	93187											
CTSK	1513	broad.mit.edu	37	chr1	150778663	150778663	+	Frame_Shift_Del	DEL	T	T	-													ggatggaaatatacttcaggTttttttcccaaattaaacgc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:150778663delT	uc001evp.1	-	3	282	c.158delA	c.(157-159)AACfs	p.N53fs	CTSK_uc001evq.1_5'UTR|CTSK_uc009wma.1_RNA	NM_000396	NP_000387	P43235	CATK_HUMAN	cathepsin K preproprotein	53					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			skin(1)	1	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATACTTCAGGTTTTTTTCCCA	0.393													-	150778663	T	-	150778663	7	5	172	1	0	1	0	1	0	0	0	0	4037	1725	60	0	855	0	CTSK	1	150778663	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	5172298	150778663	98471958	76	93188											
ARNT	405	broad.mit.edu	37	chr1	150789283	150789283	+	Frame_Shift_Del	DEL	G	G	-													cctgaaattctctgccggccGgggggtaggagggaatgtgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:150789282_150789282CG>C	uc001evr.2	-	17	1985	c.1784_1784CG>G	c.(1783-1785)cggfs	p.R595fs	ARNT_uc010pck.2_Frame_Shift_Del_p.R84fs|ARNT_uc001evs.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmd.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmb.2_Frame_Shift_Del_p.R581fs|ARNT_uc009wmc.2_Frame_Shift_Del_p.R595fs	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	595					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)			CTCTGCCGGCCGGGGGGTAGG	0.522			T	ETV6	AML								-	150789283	G	-	150789283	7	5	172	1	0	1	0	1	0	0	0	0	965	1115	39	0	606	0	ARNT	1	150789283	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	10620	150789283	98461338	77	93189											
SETDB1	9869	broad.mit.edu	37	chr1	150923206	150923206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcccggcgtcgagttaAccgcaagatgggctttcatg	13	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:150923206A>G	uc001evu.2	+	13	2043	c.1853A>G	c.(1852-1854)AAC>AGC	p.N618S	SETDB1_uc009wmf.2_Missense_Mutation_p.N619S|SETDB1_uc001evv.2_Missense_Mutation_p.N618S|SETDB1_uc009wmg.1_Missense_Mutation_p.N618S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	618	MBD.				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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			CGTCGAGTTAACCGCAAGATG	0.527													G	150923206	A	G	150923206	3	3	172	1	0	0	0	0	1	0	0	0	14138	43	2	3	1899	3	SETDB1	1	150923206	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	133923	150923206	98327415	78	93190											
CGN	57530	broad.mit.edu	37	chr1	151502544	151502545	+	Frame_Shift_Ins	INS	-	-	G													tcgaggtctggtggatggtgINSgggaagcggtggaggcacga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:151502543_151502544T>TG	uc009wmw.3	+	11	2409_2410	c.2265_2266T>TG	c.(2263-2268)ggtgggfs	p.G755fs		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	749	Glu-rich.					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)			TGGTGGATGGTGGGGAAGCGGT	0.619													G	151502545	-	G	151502544	7	5	172	1	0	1	1	0	0	0	0	0	3303	1348	47	0	2308	0	CGN	1	151502544	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	579338	151502544	97748077	79	93191											
TCHH	7062	broad.mit.edu	37	chr1	152081227	152081227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagctgttgttcctccTccaggaattttctgtcacgc	10	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152081227T>C	uc001ezp.2	-	2	4466	c.4466A>G	c.(4465-4467)GAG>GGG	p.E1489G	TCHH_uc009wne.1_Missense_Mutation_p.E1489G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1489	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTCCTCCTCCAGGAATTT	0.552													C	152081227	T	C	152081227	3	2	172	1	0	0	0	0	1	0	0	0	15697	1551	54	3	1369	3	TCHH	1	152081227	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	578683	152081227	97169394	80	93192											
HRNR	388697	broad.mit.edu	37	chr1	152188012	152188012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgagctagctccatgTtggccacagctcgatgactg	11	12	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152188012T>C	uc001ezt.1	-	3	6169	c.6093A>G	c.(6091-6093)CAA>CAG	p.Q2031Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2031	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGCTCCATGTTGGCCACAGC	0.562													C	152188012	T	C	152188012	2	2	172	1	0	0	0	0	0	0	0	1	7359	1722	60	3		3	HRNR	1	152188012	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	106785	152188012	97062609	81	93193											
HRNR	388697	broad.mit.edu	37	chr1	152192934	152192934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactgacgtgagctggagcCatgttggccagagcttgatg	15	8	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152192934C>A	uc001ezt.1	-	3	1247	c.1171G>T	c.(1171-1173)GGC>TGC	p.G391C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	391	4.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGGAGCCATGTTGGCCA	0.577													A	152192934	C	A	152192934	3	1	172	1	0	0	0	0	1	0	0	0	7359	594	21	5	7385	5	HRNR	1	152192934	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4922	152192934	97057687	82	93194											
FLG2	388698	broad.mit.edu	37	chr1	152326514	152326514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccttgaccagactggcTatgtctagtggtatttattg	10	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152326514T>C	uc001ezw.3	-	3	3821	c.3748A>G	c.(3748-3750)AGC>GGC	p.S1250G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1250	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACTGGCTATGTCTAGTG	0.473													C	152326514	T	C	152326514	3	2	172	1	0	0	0	0	1	0	0	0	5923	1522	53	3	3431	3	FLG2	1	152326514	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	133580	152326514	96924107	83	93195											
LCE5A	254910	broad.mit.edu	37	chr1	152484072	152484072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaatgtacccctaaatgccCtcccaagtgtactcctaagt	5	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152484072C>A	uc001ezy.2	+	2	238	c.62C>A	c.(61-63)CCT>CAT	p.P21H	CRCT1_uc001ezz.2_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	21	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTAAATGCcctcccaagtgt	0.428													A	152484072	C	A	152484072	3	1	172	1	0	0	0	0	1	0	0	0	8675	681	24	5	64	5	LCE5A	1	152484072	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	157558	152484072	96766549	84	93196											
IVL	3713	broad.mit.edu	37	chr1	152882474	152882474	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagcacatgactgctgtAaagggactgcctgagcaaga	12	8	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:152882474A>G	uc001fau.2	+	2	247	c.201A>G	c.(199-201)GTA>GTG	p.V67V		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	67					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	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)			TGACTGCTGTAAAGGGACTGC	0.373													G	152882474	A	G	152882474	2	3	172	1	0	0	0	0	0	0	0	1	7929	349	13	3		3	IVL	1	152882474	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	398402	152882474	96368147	85	93197											
NPR1	4881	broad.mit.edu	37	chr1	153657446	153657446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgtatcccaggaagatGcagctggagaaggaactggc	13	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:153657446G>A	uc001fcs.3	+	8	1912	c.1491G>A	c.(1489-1491)ATG>ATA	p.M497I	NPR1_uc010pdz.1_Missense_Mutation_p.M243I|NPR1_uc010pea.1_Missense_Mutation_p.M1I	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	497	Cytoplasmic (Potential).				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			ovary(3)|lung(2)|stomach(1)|breast(1)	7	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)	CCAGGAAGATGCAGCTGGAGA	0.667													A	153657446	G	A	153657446	3	1	172	1	0	0	0	0	1	0	0	0	10594	1319	46	2	1521	2	NPR1	1	153657446	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	774972	153657446	95593175	86	93198											
SLC27A3	11000	broad.mit.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-													tggcagccctagttctgcgtCccccccacgctttggacctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622													-	153751860	C	-	153751860	7	5	172	1	0	1	0	1	0	0	0	0	14527	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	94414	153751860	95498761	87	93199											
CREB3L4	148327	broad.mit.edu	37	chr1	153946445	153946445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccacctggagccaaggaTgcaaatggctcaacaaggac	12	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:153946445T>C	uc001fdn.3	+	10	1358	c.1092T>C	c.(1090-1092)GAT>GAC	p.D364D	CREB3L4_uc010pef.1_Silent_p.D217D|CREB3L4_uc001fdo.3_Silent_p.D344D|CREB3L4_uc001fdm.1_Silent_p.D364D|CREB3L4_uc001fdp.1_Silent_p.D344D|CREB3L4_uc001fdr.2_Silent_p.D364D|CREB3L4_uc001fdq.2_Silent_p.D344D	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like	364	Lumenal (Potential).				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			ovary(1)	1	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)			GAGCCAAGGATGCAAATGGCT	0.542													C	153946445	T	C	153946445	2	2	172	1	0	0	0	0	0	0	0	1	3859	1461	51	3		3	CREB3L4	1	153946445	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	194585	153946445	95304176	88	93200											
NUP210L	91181	broad.mit.edu	37	chr1	154112412	154112412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggggagcatattctgcttCggagtatttaagaatcctaa	11	6	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:154112412C>T	uc001fdw.2	-	5	655	c.583G>A	c.(583-585)GAA>AAA	p.E195K	NUP210L_uc010peh.1_Missense_Mutation_p.E195K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	195						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	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)			TATTCTGCTTCGGAGTATTTA	0.363													T	154112412	C	T	154112412	3	4	172	1	0	0	0	0	1	0	0	0	10761	893	31	1	5227	1	NUP210L	1	154112412	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	165967	154112412	95138209	89	93201											
UBAP2L	9898	broad.mit.edu	37	chr1	154239006	154239006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctccagtaacacgggcGtgccagatatctcgggttct	10	13	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:154239006G>A	uc001fep.3	+	25	3099	c.2932G>A	c.(2932-2934)GTG>ATG	p.V978M	UBAP2L_uc010pel.1_Missense_Mutation_p.V988M|UBAP2L_uc001feq.2_Missense_Mutation_p.V174M|UBAP2L_uc001fer.2_Missense_Mutation_p.V174M	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	978					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAACACGGGCGTGCCAGATAT	0.517													A	154239006	G	A	154239006	3	1	172	1	0	0	0	0	1	0	0	0	16835	1145	40	1	3080	1	UBAP2L	1	154239006	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	126594	154239006	95011615	90	93202											
DCST1	149095	broad.mit.edu	37	chr1	155020285	155020285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgccccagcctgtgggCctggatgccagggcctactg	14	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155020285C>T	uc001fgn.1	+	15	1731	c.1635C>T	c.(1633-1635)GGC>GGT	p.G545G	DCST1_uc010pes.1_Silent_p.G520G|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	545	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	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)			AGCCTGTGGGCCTGGATGCCA	0.647													T	155020285	C	T	155020285	2	4	172	1	0	0	0	0	0	0	0	1	4302	726	26	2		2	DCST1	1	155020285	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	781279	155020285	94230336	91	93203											
TRIM46	80128	broad.mit.edu	37	chr1	155154563	155154563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacttggtcaaggtgggCgtcgggctggagagcaagct	16	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155154563C>T	uc001fhs.1	+	9	1907	c.1824C>T	c.(1822-1824)GGC>GGT	p.G608G	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G482G|TRIM46_uc001fhu.1_Silent_p.G585G|TRIM46_uc009wpg.1_Silent_p.G595G|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	608	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAAGGTGGGCGTCGGGCTGG	0.642													T	155154563	C	T	155154563	2	4	172	1	0	0	0	0	0	0	0	1	16518	755	27	1		1	TRIM46	1	155154563	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	134278	155154563	94096058	92	93204											
HCN3	57657	broad.mit.edu	37	chr1	155252506	155252506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtggagctggagccaCggttggacgctgaggtctac	17	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155252506C>T	uc001fjz.1	+	2	591	c.583C>T	c.(583-585)CGG>TGG	p.R195W	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Translation_Start_Site	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	195	Extracellular (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	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)			GCTGGAGCCACGGTTGGACGC	0.602													T	155252506	C	T	155252506	3	4	172	1	0	0	0	0	1	0	0	0	6998	527	19	1	589	1	HCN3	1	155252506	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	97943	155252506	93998115	93	93205											
FDPS	2224	broad.mit.edu	37	chr1	155282155	155282155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctgatagtctccagcGggcctggactgtgggctggt	17	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155282155G>A	uc001fkc.2	+	4	668	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.R84Q|FDPS_uc001fke.2_Missense_Mutation_p.R150Q|FDPS_uc001fkf.2_Missense_Mutation_p.R84Q	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	150					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTCTCCAGCGGGCCTGGACT	0.567													A	155282155	G	A	155282155	3	1	172	1	0	0	0	0	1	0	0	0	5803	1116	39	1	459	1	FDPS	1	155282155	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	29649	155282155	93968466	94	93206											
ASH1L	55870	broad.mit.edu	37	chr1	155448019	155448019	+	Frame_Shift_Del	DEL	T	T	-													ttcctctctgtttattaagcTttttgaaggagagagatgag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155448019delT	uc009wqq.2	-	3	5122	c.4642delA	c.(4642-4644)AGCfs	p.S1548fs	ASH1L_uc001fkt.2_Frame_Shift_Del_p.S1548fs|ASH1L_uc009wqr.1_Frame_Shift_Del_p.S1548fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1548					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TTTATTAAGCTTTTTGAAGGA	0.458													-	155448019	T	-	155448019	7	5	172	1	0	1	0	1	0	0	0	0	1041	1609	56	0	4356	0	ASH1L	1	155448019	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	165864	155448019	93802602	95	93207											
ASH1L	55870	broad.mit.edu	37	chr1	155451338	155451338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgattattgatgtttgtActacaagaagccttaagcgg	9	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:155451338A>G	uc009wqq.2	-	3	1803	c.1323T>C	c.(1321-1323)AGT>AGC	p.S441S	ASH1L_uc001fkt.2_Silent_p.S441S|ASH1L_uc009wqr.1_Silent_p.S441S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	441					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TGATGTTTGTACTACAAGAAG	0.418													G	155451338	A	G	155451338	2	3	172	1	0	0	0	0	0	0	0	1	1041	388	14	3		3	ASH1L	1	155451338	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3319	155451338	93799283	96	93208											
LMNA	4000	broad.mit.edu	37	chr1	156105025	156105025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacagcaacctggtgggGgctgcccacgaggagctgca	16	11	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156105025G>A	uc001fni.2	+	5	1107	c.858G>A	c.(856-858)GGG>GGA	p.G286G	LMNA_uc001fnf.1_Silent_p.G286G|LMNA_uc001fng.2_Silent_p.G286G|LMNA_uc001fnh.2_Silent_p.G286G|LMNA_uc009wro.1_Silent_p.G286G|LMNA_uc010pgz.1_Silent_p.G174G|LMNA_uc001fnj.2_Silent_p.G205G|LMNA_uc001fnk.2_Silent_p.G187G|LMNA_uc009wrp.2_Missense_Mutation_p.G14E|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	286	Coil 2.|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|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					ACCTGGTGGGGGCTGCCCACG	0.637									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				A	156105025	G	A	156105025	2	1	172	1	0	0	0	0	0	0	0	1	8848	1219	43	4		4	LMNA	1	156105025	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	653687	156105025	93145596	97	93209											
SMG5	23381	broad.mit.edu	37	chr1	156235734	156235734	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggcttgtagattgcTggcaatgctagcctcactgg	13	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156235734T>G	uc001foc.3	-	12	1842	c.1693A>C	c.(1693-1695)AGC>CGC	p.S565R	SMG5_uc009wrv.2_Missense_Mutation_p.S50R	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	565					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TGTAGATTGCTGGCAATGCTA	0.627													G	156235734	T	G	156235734	3	3	172	1	0	0	0	0	1	0	0	0	14796	1580	55	5	1401	5	SMG5	1	156235734	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	130709	156235734	93014887	98	93210											
BCAN	63827	broad.mit.edu	37	chr1	156627543	156627543	+	Frame_Shift_Del	DEL	C	C	-													ttcttgtggtcggatggcgtCcccctggtgagaggccccag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156627542_156627542TC>T	uc001fpp.3	+	10	2621	c.2285_2285TC>T	c.(2284-2286)gtcfs	p.V762fs		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	762	C-type lectin.				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)					TCGGATGGCGTCCCCCTGGTG	0.622											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	156627543	C	-	156627543	7	5	172	1	0	1	0	1	0	0	0	0	1345	842	30	0	2398	0	BCAN	1	156627543	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	391809	156627543	92623078	99	93211											
NES	10763	broad.mit.edu	37	chr1	156642747	156642747	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctggagcagagagagAggagcatcctgggctctgat	16	7	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156642747A>G	uc001fpq.2	-	4	1366	c.1233T>C	c.(1231-1233)CCT>CCC	p.P411P		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	411	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGAGAGAGAGGAGCATCCT	0.652													G	156642747	A	G	156642747	2	3	172	1	0	0	0	0	0	0	0	1	10337	291	11	3		3	NES	1	156642747	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	15204	156642747	92607874	100	93212											
SH2D2A	9047	broad.mit.edu	37	chr1	156779193	156779193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggggcgtggggccggGcggtgtcgtggaacagggat	23	7	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156779193G>A	uc001fqd.2	-	7	944	c.804C>T	c.(802-804)CGC>CGT	p.R268R	SH2D2A_uc001fqc.1_Silent_p.R240R|SH2D2A_uc009wsh.2_Silent_p.R278R|SH2D2A_uc001fqe.2_Silent_p.R250R|SH2D2A_uc010phs.1_Silent_p.R268R	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	268	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGGGCCGGGCGGTGTCGTG	0.632													A	156779193	G	A	156779193	2	1	172	1	0	0	0	0	0	0	0	1	14232	1190	42	2		2	SH2D2A	1	156779193	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	136446	156779193	92471428	101	93213											
INSRR	3645	broad.mit.edu	37	chr1	156816356	156816356	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgggactctgggctccttGatgagggctgtcctcctcag	14	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:156816356G>A	uc010pht.1	-	8	2019	c.1765C>T	c.(1765-1767)CAA>TAA	p.Q589*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	589	Fibronectin type-III 1.				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			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGCTCCTTGATGAGGGCTG	0.597													A	156816356	G	A	156816356	4	1	172	1	0	0	0	0	0	1	0	0	7774	1299	45	4	2187	4	INSRR	1	156816356	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	37163	156816356	92434265	102	93214											
CD1D	912	broad.mit.edu	37	chr1	158152042	158152042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggctccttaatggcacCtgcccccaatttgtcagtgg	10	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158152042C>T	uc001frr.2	+	4	1048	c.549C>T	c.(547-549)ACC>ACT	p.T183T	CD1D_uc009wsr.1_Silent_p.T183T|CD1D_uc009wss.2_Silent_p.T183T|CD1D_uc009wst.1_Silent_p.T79T	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	183	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					TTAATGGCACCTGCCCCCAAT	0.547													T	158152042	C	T	158152042	2	4	172	1	0	0	0	0	0	0	0	1	2977	668	24	4		4	CD1D	1	158152042	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1335686	158152042	91098579	103	93215											
CD1A	909	broad.mit.edu	37	chr1	158226686	158226686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtgggtgatgtggatgCggggtgagcaggagcagcag	21	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158226686C>T	uc001frt.2	+	4	1248	c.715C>T	c.(715-717)CGG>TGG	p.R239W		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	239	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GATGTGGATGCGGGGTGAGCA	0.642													T	158226686	C	T	158226686	3	4	172	1	0	0	0	0	1	0	0	0	2974	759	27	1	729	1	CD1A	1	158226686	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	74644	158226686	91023935	104	93216											
CD1B	910	broad.mit.edu	37	chr1	158299763	158299763	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattgtatgattagtgcacaGaatttctgtgccctgctgcc	9	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158299763G>T	uc001frx.2	-	3	594	c.486C>A	c.(484-486)TTC>TTA	p.F162L	CD1B_uc001frw.2_Missense_Mutation_p.F55L	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	162	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					TTAGTGCACAGAATTTCTGTG	0.478													T	158299763	G	T	158299763	3	4	172	1	0	0	0	0	1	0	0	0	2975	933	33	5	531	5	CD1B	1	158299763	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	73077	158299763	90950858	105	93217											
CD1E	913	broad.mit.edu	37	chr1	158325868	158325868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaaacacagcagtctaGggggccatgatctaatcatc	12	9	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158325868G>A	uc001fse.2	+	4	1116	c.877G>A	c.(877-879)GGG>AGG	p.G293R	CD1E_uc010pid.1_Missense_Mutation_p.G291R|CD1E_uc010pie.1_Missense_Mutation_p.G194R|CD1E_uc010pif.1_Missense_Mutation_p.G104R|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.G203R|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.G104R|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.G293R|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.G104R|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.G194R|CD1E_uc001frz.2_Missense_Mutation_p.G203R|CD1E_uc009wsw.2_Missense_Mutation_p.G51R	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	293	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CAGCAGTCTAGGGGGCCATGA	0.557													A	158325868	G	A	158325868	3	1	172	1	0	0	0	0	1	0	0	0	2978	1000	35	4	891	4	CD1E	1	158325868	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	26105	158325868	90924753	106	93218											
SPTA1	6708	broad.mit.edu	37	chr1	158581162	158581162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggcacagaatgacacTtgctctggggtaagggcctg	15	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158581162T>G	uc001fst.1	-	52	7351	c.7152A>C	c.(7150-7152)CAA>CAC	p.Q2384H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2384	EF-hand 3.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGAATGACACTTGCTCTGGGG	0.443													G	158581162	T	G	158581162	3	3	172	1	0	0	0	0	1	0	0	0	15115	1606	56	5	111	5	SPTA1	1	158581162	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	255294	158581162	90669459	107	93219											
OR6K3	391114	broad.mit.edu	37	chr1	158687251	158687251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatatcacagtgacaattcTtacataggacagggcaatga	8	8	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:158687251T>C	uc010pip.1	-	1	703	c.703A>G	c.(703-705)AGA>GGA	p.R235G		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GTGACAATTCTTACATAGGAC	0.458													C	158687251	T	C	158687251	3	2	172	1	0	0	0	0	1	0	0	0	11203	1617	56	3	294	3	OR6K3	1	158687251	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	106089	158687251	90563370	108	93220											
IGSF9	57549	broad.mit.edu	37	chr1	159900941	159900941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcacagtggggtgtaccAgacactgaatctctgcagat	10	11	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:159900941A>G	uc001fur.2	-	13	1822	c.1624T>C	c.(1624-1626)TGG>CGG	p.W542R	IGSF9_uc001fuq.2_Missense_Mutation_p.W526R|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	542	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGTGTACCAGACACTGAAT	0.532													G	159900941	A	G	159900941	3	3	172	1	0	0	0	0	1	0	0	0	7605	188	7	3	1951	3	IGSF9	1	159900941	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1213690	159900941	89349680	109	93221											
NOS1AP	9722	broad.mit.edu	37	chr1	162325131	162325131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggaaggaggctctcaCacaggctccaaggtaggcaa	15	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:162325131C>T	uc001gbv.2	+	7	1137	c.750C>T	c.(748-750)CAC>CAT	p.H250H	NOS1AP_uc010pkr.1_Silent_p.H245H|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.H245H	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	250					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GAGGCTCTCACACAGGCTCCA	0.562													T	162325131	C	T	162325131	2	4	172	1	0	0	0	0	0	0	0	1	10542	477	17	4		4	NOS1AP	1	162325131	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2424190	162325131	86925490	110	93222											
UCK2	7371	broad.mit.edu	37	chr1	165876941	165876941	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatcaacctcatcgtgCagcacatccaggacatcctg	8	15	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:165876941C>T	uc001gdp.2	+	7	848	c.667C>T	c.(667-669)CAG>TAG	p.Q223*	UCK2_uc010plb.1_Nonsense_Mutation_p.Q85*	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	223					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			ovary(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCTCATCGTGCAGCACATCCA	0.612													T	165876941	C	T	165876941	4	4	172	1	0	0	0	0	0	1	0	0	16921	711	25	2	693	2	UCK2	1	165876941	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3551810	165876941	83373680	111	93223											
MAEL	84944	broad.mit.edu	37	chr1	166958612	166958612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaaccgtaaggccagccGgaatgcttactatttcttcg	10	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:166958612G>A	uc001gdy.1	+	1	94	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	MAEL_uc001gdz.1_Missense_Mutation_p.R8Q|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	8	HMG box.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						AAGGCCAGCCGGAATGCTTAC	0.607													A	166958612	G	A	166958612	3	1	172	1	0	0	0	0	1	0	0	0	9154	1116	39	1	25	1	MAEL	1	166958612	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1081671	166958612	82292009	112	93224											
ADCY10	55811	broad.mit.edu	37	chr1	167865906	167865906	+	Frame_Shift_Del	DEL	G	G	-													aattcatcaaaattaaaattGgggggtggttttaagaagtt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:167865906delG	uc001ger.2	-	7	964	c.666delC	c.(664-666)CCCfs	p.P222fs	ADCY10_uc009wvk.2_Frame_Shift_Del_p.P130fs|ADCY10_uc010plj.1_Frame_Shift_Del_p.P69fs|ADCY10_uc009wvl.2_Frame_Shift_Del_p.P221fs|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	222					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						AATTAAAATTGGGGGGTGGTT	0.333													-	167865906	G	-	167865906	7	5	172	1	0	1	0	1	0	0	0	0	293	1335	47	0	4274	0	ADCY10	1	167865906	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	907294	167865906	81384715	113	93225											
BLZF1	8548	broad.mit.edu	37	chr1	169351458	169351458	+	Frame_Shift_Del	DEL	A	A	-													aaatgttggcattaacaatcAaaaaaagattccatcaacag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:169351458delA	uc001gfx.1	+	6	1393	c.956delA	c.(955-957)CAAfs	p.Q319fs	BLZF1_uc001gfy.2_Frame_Shift_Del_p.Q319fs|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	319					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			skin(1)	1	all_hematologic(923;0.208)					ATTAACAATCAAAAAAAGATT	0.383													-	169351458	A	-	169351458	7	5	172	1	0	1	0	1	0	0	0	0	1453	130	5	0	974	0	BLZF1	1	169351458	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1485552	169351458	79899163	114	93226											
METTL13	51603	broad.mit.edu	37	chr1	171753504	171753504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgtgcagccagctgCgccgcaaggccaggctgggg	17	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:171753504C>T	uc001ghz.2	+	2	1125	c.778C>T	c.(778-780)CGC>TGC	p.R260C	METTL13_uc001gia.2_Missense_Mutation_p.R174C|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.R259C	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	260							methyltransferase activity|protein binding			kidney(1)	1						CAGCCAGCTGCGCCGCAAGGC	0.677													T	171753504	C	T	171753504	3	4	172	1	0	0	0	0	1	0	0	0	9497	768	27	1	784	1	METTL13	1	171753504	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2402046	171753504	77497117	115	93227											
PIGC	5279	broad.mit.edu	37	chr1	172411516	172411516	+	Frame_Shift_Del	DEL	G	G	-													accagtccctaaaagccaatGgggggccagaagaccctcat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:172411515_172411515TG>T	uc021pey.1	-	0	248	c.248_248CA>A	c.(247-249)catfs	p.H83fs	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Frame_Shift_Del_p.H83fs|PIGC_uc001gio.3_Frame_Shift_Del_p.H83fs	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	83					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TAAAAGCCAATGGGGGGCCAG	0.502													-	172411516	G	-	172411516	7	5	172	1	0	1	0	1	0	0	0	0	11886	1348	47	0	650	0	PIGC	1	172411516	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	658012	172411516	76839105	116	93228											
KLHL20	27252	broad.mit.edu	37	chr1	173702865	173702865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctataggtgtaccaacattCgaccaggagagactggaatg	11	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:173702865C>T	uc001gjc.2	+	3	216	c.37C>T	c.(37-39)CGA>TGA	p.R13*	KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_5'UTR|KLHL20_uc001gjd.2_Nonsense_Mutation_p.R13*	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	13					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						TACCAACATTCGACCAGGAGA	0.473													T	173702865	C	T	173702865	4	4	172	1	0	0	0	0	0	1	0	0	8375	876	31	1	43	1	KLHL20	1	173702865	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1291349	173702865	75547756	117	93229											
KLHL20	27252	broad.mit.edu	37	chr1	173735385	173735385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggctttctttatgctGtgggtggccaggatggtgtg	17	5	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:173735385G>A	uc001gjc.2	+	8	1431	c.1252G>A	c.(1252-1254)GTG>ATG	p.V418M	KLHL20_uc010pmr.1_Missense_Mutation_p.V229M|KLHL20_uc009wwf.2_Missense_Mutation_p.V400M	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	418	Kelch 3.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						TCTTTATGCTGTGGGTGGCCA	0.438													A	173735385	G	A	173735385	3	1	172	1	0	0	0	0	1	0	0	0	8375	1377	48	4	1278	4	KLHL20	1	173735385	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	32520	173735385	75515236	118	93230											
GPR52	9293	broad.mit.edu	37	chr1	174417458	174417458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttcattgtgctccacTgttacatcattatactacca	4	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:174417458T>C	uc001gka.1	+	1	247	c.209T>C	c.(208-210)CTG>CCG	p.L70P	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	70	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TGTGCTCCACTGTTACATCAT	0.418													C	174417458	T	C	174417458	3	2	172	1	0	0	0	0	1	0	0	0	6698	1580	55	3	211	3	GPR52	1	174417458	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	682073	174417458	74833163	119	93231											
TNR	7143	broad.mit.edu	37	chr1	175372584	175372584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatccccgctgtactcgCtgtcacagatgcactggcca	9	15	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:175372584C>T	uc001gkp.1	-	2	749	c.668G>A	c.(667-669)AGC>AAC	p.S223N	TNR_uc009wwu.1_Missense_Mutation_p.S223N|TNR_uc010pmz.1_Missense_Mutation_p.S223N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	223	Cys-rich.|EGF-like 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S223S(1)		pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GCTGTACTCGCTGTCACAGAT	0.627													T	175372584	C	T	175372584	3	4	172	1	0	0	0	0	1	0	0	0	16335	797	28	2	3488	2	TNR	1	175372584	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	955126	175372584	73878037	120	93232											
RFWD2	64326	broad.mit.edu	37	chr1	175996767	175996767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttaacacagcacacaTtagcctttgcctcaatgctt	5	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:175996767T>C	uc001gku.1	-	15	1926	c.1670A>G	c.(1669-1671)AAT>AGT	p.N557S	RFWD2_uc001gkv.1_Missense_Mutation_p.N533S|RFWD2_uc001gkw.1_Missense_Mutation_p.N317S|RFWD2_uc009wwv.2_Missense_Mutation_p.N356S|RFWD2_uc001gkt.1_Missense_Mutation_p.N396S	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	557	WD 4.				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				0						ACAGCACACATTAGCCTTTGC	0.413													C	175996767	T	C	175996767	3	2	172	1	0	0	0	0	1	0	0	0	13260	1493	52	3	549	3	RFWD2	1	175996767	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	624183	175996767	73253854	121	93233											
RFWD2	64326	broad.mit.edu	37	chr1	176012905	176012905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaataacagtgccttcatAatcactgctagctaacaggt	6	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:176012905A>G	uc001gku.1	-	13	1727	c.1471T>C	c.(1471-1473)TAT>CAT	p.Y491H	RFWD2_uc001gkv.1_Missense_Mutation_p.Y467H|RFWD2_uc001gkw.1_Missense_Mutation_p.Y251H|RFWD2_uc009wwv.2_Missense_Mutation_p.Y290H|RFWD2_uc001gkt.1_Missense_Mutation_p.Y330H	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	491	WD 2.				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				0						GTGCCTTCATAATCACTGCTA	0.333													G	176012905	A	G	176012905	3	3	172	1	0	0	0	0	1	0	0	0	13260	362	13	3	756	3	RFWD2	1	176012905	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	16138	176012905	73237716	122	93234											
CACNA1E	777	broad.mit.edu	37	chr1	181686388	181686388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcactcaacactgcctGtgtggccattgtccatcaca	9	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:181686388G>A	uc001gow.2	+	11	1640	c.1475G>A	c.(1474-1476)TGT>TAT	p.C492Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.C399Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	492	Helical; Name=S1 of repeat II.|II.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AACACTGCCTGTGTGGCCATT	0.552													A	181686388	G	A	181686388	3	1	172	1	0	0	0	0	1	0	0	0	2542	1377	48	4	1517	4	CACNA1E	1	181686388	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5673483	181686388	67564233	123	93235											
HMCN1	83872	broad.mit.edu	37	chr1	186107029	186107029	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacttgcaataatccaTcagttcagcatggtgggcgg	12	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:186107029T>A	uc001grq.1	+	89	14078	c.13849T>A	c.(13849-13851)TCA>ACA	p.S4617T	HMCN1_uc001grs.1_Missense_Mutation_p.S186T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4617	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAATAATCCATCAGTTCAGCA	0.493													A	186107029	T	A	186107029	3	1	172	1	0	0	0	0	1	0	0	0	7220	1435	50	5	14203	5	HMCN1	1	186107029	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4420641	186107029	63143592	124	93236											
TPR	7175	broad.mit.edu	37	chr1	186325579	186325579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagctgaagctcagtgAttctgtagaaaaagtcggcc	12	7	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:186325579A>G	uc001grv.2	-	15	2024	c.1727T>C	c.(1726-1728)ATC>ACC	p.I576T		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	576	Potential.				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			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		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)		AAGCTCAGTGATTCTGTAGAA	0.408			T	NTRK1	papillary thyroid								G	186325579	A	G	186325579	3	3	172	1	0	0	0	0	1	0	0	0	16413	333	12	3	5512	3	TPR	1	186325579	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	218550	186325579	62925042	125	93237											
CRB1	23418	broad.mit.edu	37	chr1	197390889	197390889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtttgtaggctgtctccAagacattaaaattgattgga	9	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:197390889A>G	uc001gtz.2	+	6	2066	c.1931A>G	c.(1930-1932)CAA>CGA	p.Q644R	CRB1_uc010poz.1_Missense_Mutation_p.Q575R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q532R|CRB1_uc010ppb.1_Missense_Mutation_p.Q644R|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.Q125R|CRB1_uc001gub.1_Missense_Mutation_p.Q293R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	644	Extracellular (Potential).|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			ovary(5)|skin(3)|large_intestine(1)	9						GGCTGTCTCCAAGACATTAAA	0.433													G	197390889	A	G	197390889	3	3	172	1	0	0	0	0	1	0	0	0	3848	130	5	3	1953	3	CRB1	1	197390889	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	11065310	197390889	51859732	126	93238											
KIF21B	23046	broad.mit.edu	37	chr1	200977992	200977992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccccaaagaggtgtgCgatggccctcgggatgatgc	14	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:200977992C>T	uc001gvs.1	-	3	669	c.352G>A	c.(352-354)GCA>ACA	p.A118T	KIF21B_uc001gvr.1_Missense_Mutation_p.A118T|KIF21B_uc009wzl.1_Missense_Mutation_p.A118T|KIF21B_uc010ppn.1_Missense_Mutation_p.A118T	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	118	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						AAGAGGTGTGCGATGGCCCTC	0.627													T	200977992	C	T	200977992	3	4	172	1	0	0	0	0	1	0	0	0	8289	768	27	1	4650	1	KIF21B	1	200977992	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3587103	200977992	48272629	127	93239											
CACNA1S	779	broad.mit.edu	37	chr1	201035447	201035447	+	Splice_Site	DEL	G	G	-													acggagatggcactggacctGgggggcggcaatggtgaggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:201035446_201035446TG>T	uc001gvv.3	-	21	2885	c.2658_splice	c.e21-1	p.E886_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	886					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)	GCACTGGACCTGGGGGGCGGC	0.647													-	201035447	G	-	201035447	8	5	172	1	0	1	0	1	0	0	1	0	2547	1363	47	0		0	CACNA1S	1	201035447	Splice_Site	DEL	G	TCGA-CG-4442-01A-01D-1158-08	57455	201035447	48215174	128	93240											
ARL8A	127829	broad.mit.edu	37	chr1	202107101	202107101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtacttacacgatggcGctcactcctcggcagtagcg	11	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:202107101G>A	uc001gxk.1	-	3	436	c.270C>T	c.(268-270)AGC>AGT	p.S90S		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	90					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			ovary(2)	2						ACACGATGGCGCTCACTCCTC	0.537													A	202107101	G	A	202107101	2	1	172	1	0	0	0	0	0	0	0	1	946	1078	38	1		1	ARL8A	1	202107101	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1071654	202107101	47143520	129	93241											
PPFIA4	8497	broad.mit.edu	37	chr1	203015058	203015058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggcaacatccatccaTgacctcaatgacaagctgga	9	12	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:203015058T>C	uc009xaj.2	+	12	1389	c.1389T>C	c.(1387-1389)CAT>CAC	p.H463H	PPFIA4_uc010pqf.1_Silent_p.H23H			O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CATCCATCCATGACCTCAATG	0.577													C	203015058	T	C	203015058	2	2	172	1	0	0	0	0	0	0	0	1	12312	1479	51	3		3	PPFIA4	1	203015058	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	907957	203015058	46235563	130	93242											
CHI3L1	1116	broad.mit.edu	37	chr1	203152803	203152803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgctgtttgtctctcCgtccagggtagagccaggca	11	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:203152803C>T	uc001gzi.2	-	5	602	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.R144Q	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	144					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						TTTGTCTCTCCGTCCAGGGTA	0.577													T	203152803	C	T	203152803	3	4	172	1	0	0	0	0	1	0	0	0	3340	652	23	1	744	1	CHI3L1	1	203152803	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	137745	203152803	46097818	131	93243											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819736	203819736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtggagatgcacgctgCtgtcattgccgctgtgaagc	15	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:203819736C>T	uc001hac.2	+	18	2649	c.2033C>T	c.(2032-2034)GCT>GTT	p.A678V	ZC3H11A_uc001had.2_Missense_Mutation_p.A678V|ZC3H11A_uc001hae.2_Missense_Mutation_p.A678V|ZC3H11A_uc001haf.2_Missense_Mutation_p.A678V|ZC3H11A_uc010pqm.1_Missense_Mutation_p.A624V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	678							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGCACGCTGCTGTCATTGCC	0.502													T	203819736	C	T	203819736	3	4	172	1	0	0	0	0	1	0	0	0	17557	797	28	2	2087	2	ZC3H11A	1	203819736	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	666933	203819736	45430885	132	93244											
TMCC2	9911	broad.mit.edu	37	chr1	205238532	205238532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagcggctttgggggcgGcgtggtggagggcgtcaagg	21	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:205238532G>A	uc001hbz.1	+	4	1646	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D	TMCC2_uc010prf.1_Missense_Mutation_p.G323D|TMCC2_uc001hca.2_Missense_Mutation_p.G176D|TMCC2_uc001hcb.1_Missense_Mutation_p.G161D|TMCC2_uc001hcc.1_Missense_Mutation_p.G22D|TMCC2_uc001hcd.2_Missense_Mutation_p.G168D	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	401						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTTGGGGGCGGCGTGGTGGAG	0.706													A	205238532	G	A	205238532	3	1	172	1	0	0	0	0	1	0	0	0	15990	1203	42	2	1212	2	TMCC2	1	205238532	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1418796	205238532	44012089	133	93245											
CD55	1604	broad.mit.edu	37	chr1	207495788	207495788	+	Frame_Shift_Del	DEL	T	T	-													gctttggaaggccgtacaagTtttcccgaggatactgtaat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:207495788delT	uc001hfq.3	+	2	456	c.162delT	c.(160-162)AGTfs	p.S54fs	CD55_uc001hfp.3_Frame_Shift_Del_p.S54fs|CD55_uc001hfr.3_Frame_Shift_Del_p.S54fs|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Frame_Shift_Del_p.S54fs|CD55_uc009xce.2_Frame_Shift_Del_p.S54fs	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	54	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)	GCCGTACAAGTTTTCCCGAGG	0.468													-	207495788	T	-	207495788	7	5	172	1	0	1	0	1	0	0	0	0	3024	1722	60	0	168	0	CD55	1	207495788	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	2257256	207495788	41754833	134	93246											
CR1	1378	broad.mit.edu	37	chr1	207739212	207739212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcagctctgctagttAttgtgtcttggctggaatgg	13	6	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:207739212A>G	uc001hfy.2	+	16	2686	c.2546A>G	c.(2545-2547)TAT>TGT	p.Y849C	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.Y1299C|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	849	Extracellular (Potential).|Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TCTGCTAGTTATTGTGTCTTG	0.423													G	207739212	A	G	207739212	3	3	172	1	0	0	0	0	1	0	0	0	3840	449	16	3	3990	3	CR1	1	207739212	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	243424	207739212	41511409	135	93247											
CR1	1378	broad.mit.edu	37	chr1	207782932	207782932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccctcactgagatcaTcagatttagatgtcagcccg	7	12	4	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:207782932T>C	uc001hfy.2	+	29	4984	c.4844T>C	c.(4843-4845)ATC>ACC	p.I1615T	CR1_uc009xcl.1_Missense_Mutation_p.I1165T|CR1_uc001hfx.2_Missense_Mutation_p.I2065T	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1615	Extracellular (Potential).|Sushi 25.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						ACTGAGATCATCAGATTTAGA	0.502													C	207782932	T	C	207782932	3	2	172	1	0	0	0	0	1	0	0	0	3840	1435	50	3	6340	3	CR1	1	207782932	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	43720	207782932	41467689	136	93248											
PLXNA2	5362	broad.mit.edu	37	chr1	208391087	208391087	+	Frame_Shift_Del	DEL	C	C	-													gatggcccccacatagacggCccccgtcccttggtggacgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:208391087delC	uc001hgz.2	-	2	939	c.181delG	c.(181-183)GCCfs	p.A61fs	PLXNA2_uc001hha.3_Frame_Shift_Del_p.A115fs	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	61	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACATAGACGGCCCCCGTCCCT	0.592													-	208391087	C	-	208391087	7	5	172	1	0	1	0	1	0	0	0	0	12120	739	26	0	5627	0	PLXNA2	1	208391087	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	608155	208391087	40859534	137	93249											
LAMB3	3914	broad.mit.edu	37	chr1	209788709	209788709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcaggtccgctgagcgCagcatgatggcctggctgcc	14	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:209788709C>T	uc001hhg.2	-	22	3816	c.3426G>A	c.(3424-3426)CTG>CTA	p.L1142L	LAMB3_uc009xco.2_Silent_p.L1142L|LAMB3_uc001hhh.2_Silent_p.L1142L	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1142	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGCTGAGCGCAGCATGATGG	0.582													T	209788709	C	T	209788709	2	4	172	1	0	0	0	0	0	0	0	1	8612	697	25	2		2	LAMB3	1	209788709	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1397622	209788709	39461912	138	93250											
LAMB3	3914	broad.mit.edu	37	chr1	209789929	209789929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaactctgacccaaccggTccttcaactcagcatacttt	6	14	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:209789929T>C	uc001hhg.2	-	21	3659	c.3269A>G	c.(3268-3270)GAC>GGC	p.D1090G	LAMB3_uc009xco.2_Missense_Mutation_p.D1090G|LAMB3_uc001hhh.2_Missense_Mutation_p.D1090G	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1090	Domain I.|Potential.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCCAACCGGTCCTTCAACTC	0.488													C	209789929	T	C	209789929	3	2	172	1	0	0	0	0	1	0	0	0	8612	1667	58	3	257	3	LAMB3	1	209789929	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1220	209789929	39460692	139	93251											
LAMB3	3914	broad.mit.edu	37	chr1	209803202	209803202	+	Frame_Shift_Del	DEL	C	C	-													gtcacacacacctccatatgCcccctggctggcggcaaaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:209803202delC	uc001hhg.2	-	9	1402	c.1012delG	c.(1012-1014)GCAfs	p.A338fs	LAMB3_uc009xco.2_Frame_Shift_Del_p.A338fs|LAMB3_uc001hhh.2_Frame_Shift_Del_p.A338fs|LAMB3_uc010psl.1_RNA	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	338	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCTCCATATGCCCCCTGGCTG	0.567													-	209803202	C	-	209803202	7	5	172	1	0	1	0	1	0	0	0	0	8612	739	26	0	2562	0	LAMB3	1	209803202	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	13273	209803202	39447419	140	93252											
SERTAD4	56256	broad.mit.edu	37	chr1	210415037	210415037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaggatccatggagaAattatcatgcagaataactg	9	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:210415037A>G	uc001hhy.2	+	4	605	c.426A>G	c.(424-426)GAA>GAG	p.E142E	SERTAD4_uc009xcw.2_Silent_p.E142E	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	142	SERTA.						protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCCATGGAGAAATTATCATGC	0.418													G	210415037	A	G	210415037	2	3	172	1	0	0	0	0	0	0	0	1	14123	11	1	3		3	SERTAD4	1	210415037	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	611835	210415037	38835584	141	93253											
KCNH1	3756	broad.mit.edu	37	chr1	210857460	210857460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttcacgtttcacatcGctgatcttccggaacacaat	5	14	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:210857460G>A	uc001hib.2	-	11	2303	c.2133C>T	c.(2131-2133)AGC>AGT	p.S711S	KCNH1_uc001hic.2_Silent_p.S684S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	711	Cytoplasmic (Potential).|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			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTTTCACATCGCTGATCTTCC	0.562													A	210857460	G	A	210857460	2	1	172	1	0	0	0	0	0	0	0	1	8031	1078	38	1		1	KCNH1	1	210857460	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	442423	210857460	38393161	142	93254											
PPP2R5A	5525	broad.mit.edu	37	chr1	212519208	212519208	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagactgttctgcacCgaatttatgggaaatttctt	8	8	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:212519208C>T	uc001hjb.2	+	5	1211	c.637C>T	c.(637-639)CGA>TGA	p.R213*	PPP2R5A_uc010ptd.1_Nonsense_Mutation_p.R154*	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	213					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			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TGTTCTGCACCGAATTTATGG	0.323													T	212519208	C	T	212519208	4	4	172	1	0	0	0	0	0	1	0	0	12392	644	23	1	655	1	PPP2R5A	1	212519208	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1661748	212519208	36731413	143	93255											
TATDN3	128387	broad.mit.edu	37	chr1	212981104	212981104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtactgctgcatgcaTttgatggtcggccatctgta	12	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:212981104T>C	uc001hjo.2	+	8	608	c.514T>C	c.(514-516)TTT>CTT	p.F172L	TATDN3_uc010ptj.1_Missense_Mutation_p.F172L|TATDN3_uc010ptk.1_Missense_Mutation_p.F172L|TATDN3_uc001hjp.2_Missense_Mutation_p.F172L|TATDN3_uc010ptl.1_Missense_Mutation_p.F151L|TATDN3_uc010ptm.1_Missense_Mutation_p.F120L	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	172						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		GCTGCATGCATTTGATGGTCG	0.388													C	212981104	T	C	212981104	3	2	172	1	0	0	0	0	1	0	0	0	15590	1493	52	3	544	3	TATDN3	1	212981104	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	461896	212981104	36269517	144	93256											
PROX1	5629	broad.mit.edu	37	chr1	214169903	214169903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccatgacagcacagccCtcttaagccggcaaaccaag	8	15	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:214169903C>A	uc001hkh.2	+	2	297	c.25C>A	c.(25-27)CTC>ATC	p.L9I	PROX1_uc001hkg.1_Missense_Mutation_p.L9I	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	9					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			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCACAGCCCTCTTAAGCCG	0.512													A	214169903	C	A	214169903	3	1	172	1	0	0	0	0	1	0	0	0	12560	681	24	5	27	5	PROX1	1	214169903	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1188799	214169903	35080718	145	93257											
KCNK2	3776	broad.mit.edu	37	chr1	215179291	215179291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccacgagcaaaaagggaTttctactgtgagtatctttg	9	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:215179291T>C	uc001hko.2	+	1	407	c.27T>C	c.(25-27)GAT>GAC	p.D9D	KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA	NM_001017424	NP_001017424	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	Error:Variant_position_missing_in_O95069_after_alignment							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAAAAAGGGATTTCTACTGTG	0.373													C	215179291	T	C	215179291	2	2	172	1	0	0	0	0	0	0	0	1	8066	1490	52	3		3	KCNK2	1	215179291	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1009388	215179291	34071330	146	93258											
KCTD3	51133	broad.mit.edu	37	chr1	215777493	215777493	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgtcagtggtaactggatCgagatcgcctatggtacgag	15	7	1	1	rs138597417	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:215777493C>T	uc001hks.2	+	13	1452	c.1158C>T	c.(1156-1158)ATC>ATT	p.I386I	KCTD3_uc001hkt.2_Silent_p.I386I|KCTD3_uc010pub.1_Silent_p.I284I|KCTD3_uc009xdn.2_Silent_p.I138I	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	386						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTAACTGGATCGAGATCGCCT	0.443													T	215777493	C	T	215777493	2	4	172	1	0	0	0	0	0	0	0	1	8110	874	31	1		1	KCTD3	1	215777493	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	598202	215777493	33473128	147	93259											
USH2A	7399	broad.mit.edu	37	chr1	216496967	216496967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtattatagaagttattgtAtccaggacgataatttggtc	10	4	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:216496967A>G	uc001hku.1	-	8	1786	c.1399T>C	c.(1399-1401)TAC>CAC	p.Y467H	USH2A_uc001hkv.2_Missense_Mutation_p.Y467H	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	467	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTTATTGTATCCAGGACGA	0.388										HNSCC(13;0.011)			G	216496967	A	G	216496967	3	3	172	1	0	0	0	0	1	0	0	0	17033	449	16	3	14483	3	USH2A	1	216496967	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	719474	216496967	32753654	148	93260											
GPATCH2	55105	broad.mit.edu	37	chr1	217793264	217793264	+	Frame_Shift_Del	DEL	T	T	-													tctgattattttcaactttcTttttttgactttgttcttgg					rs71763020		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:217793264delT	uc001hlf.1	-	2	730	c.634delA	c.(634-636)AGAfs	p.R212fs	GPATCH2_uc001hlg.3_Frame_Shift_Del_p.R212fs	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	212						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTCAACTTTCTTTTTTTGACT	0.398													-	217793264	T	-	217793264	7	5	172	1	0	1	0	1	0	0	0	0	6591	1617	56	0	988	0	GPATCH2	1	217793264	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1296297	217793264	31457357	149	93261											
TGFB2	7042	broad.mit.edu	37	chr1	218607454	218607454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagatttaacatctccaAcccagcgctacatcgacagc	5	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:218607454A>G	uc001hlm.2	+	3	1194	c.541A>G	c.(541-543)ACC>GCC	p.T181A	TGFB2_uc001hln.2_Missense_Mutation_p.T209A|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	181					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AACATCTCCAACCCAGCGCTA	0.433													G	218607454	A	G	218607454	3	3	172	1	0	0	0	0	1	0	0	0	15815	43	2	3	639	3	TGFB2	1	218607454	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	814190	218607454	30643167	150	93262											
LBR	3930	broad.mit.edu	37	chr1	225598068	225598068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccaaggatggaacagcGcggtcctgtattttcatttc	11	9	1	0	rs149483088		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:225598068G>A	uc001hoy.2	-	10	1382	c.1239C>T	c.(1237-1239)CGC>CGT	p.R413R	LBR_uc001hoz.2_Silent_p.R413R|LBR_uc001hpa.1_Silent_p.R413R	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	413					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGGAACAGCGCGGTCCTGTA	0.358													A	225598068	G	A	225598068	2	1	172	1	0	0	0	0	0	0	0	1	8652	1074	38	1		1	LBR	1	225598068	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6990614	225598068	23652553	151	93263											
PARP1	142	broad.mit.edu	37	chr1	226562030	226562030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggtgccaggatttactGtcagcttcttcactgcctct	8	12	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:226562030G>A	uc001hqd.3	-	14	2138	c.1967C>T	c.(1966-1968)ACA>ATA	p.T656I		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	656					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			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGGATTTACTGTCAGCTTCTT	0.468								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					A	226562030	G	A	226562030	3	1	172	1	0	0	0	0	1	0	0	0	11454	1377	48	4	1117	4	PARP1	1	226562030	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	963962	226562030	22688591	152	93264											
ITPKB	3707	broad.mit.edu	37	chr1	226923855	226923855	+	Frame_Shift_Del	DEL	C	C	-													ctgtcggagagctgccaacgCcccccgcccacgggggcccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:226923854_226923854GC>G	uc010pvo.2	-	1	1646	c.1306_1306GC>C	c.(1306-1308)cgtfs	p.R436fs	ITPKB_uc001hqh.3_Frame_Shift_Del_p.R436fs	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	436							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.T435S(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGCTGCCAACGCCCCCCGCCC	0.721													-	226923855	C	-	226923855	7	5	172	1	0	1	0	1	0	0	0	0	7918	726	26	0	1563	0	ITPKB	1	226923855	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	361825	226923855	22326766	153	93265											
OBSCN	84033	broad.mit.edu	37	chr1	228434434	228434434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggtgcagcaggcaggCcaggcagatgctggggagta	19	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:228434434C>T	uc009xez.1	+	13	4007	c.3963C>T	c.(3961-3963)GGC>GGT	p.G1321G	OBSCN_uc001hsn.2_Silent_p.G1321G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1321	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGCAGGCAGGCCAGGCAGATG	0.597													T	228434434	C	T	228434434	2	4	172	1	0	0	0	0	0	0	0	1	10812	726	26	2		2	OBSCN	1	228434434	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1510579	228434434	20816187	154	93266											
OBSCN	84033	broad.mit.edu	37	chr1	228468282	228468282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctgtccgcagaggagcGcggcaccctggccctgcagt	14	15	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:228468282G>A	uc009xez.1	+	30	8026	c.7982G>A	c.(7981-7983)CGC>CAC	p.R2661H	OBSCN_uc001hsn.2_Missense_Mutation_p.R2661H|OBSCN_uc001hsp.1_Missense_Mutation_p.R360H|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2661	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCAGAGGAGCGCGGCACCCTG	0.637													A	228468282	G	A	228468282	3	1	172	1	0	0	0	0	1	0	0	0	10812	1087	38	1	8096	1	OBSCN	1	228468282	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	33848	228468282	20782339	155	93267											
URB2	9816	broad.mit.edu	37	chr1	229770731	229770731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacatctgtgctgtccttcGatgttgccagggcatcctgt	10	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:229770731G>A	uc001hts.1	+	4	507	c.371G>A	c.(370-372)CGA>CAA	p.R124Q	URB2_uc009xfd.1_Missense_Mutation_p.R124Q	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	124						nucleolus				central_nervous_system(2)|ovary(1)	3						GCTGTCCTTCGATGTTGCCAG	0.498													A	229770731	G	A	229770731	3	1	172	1	0	0	0	0	1	0	0	0	17022	1058	37	1	381	1	URB2	1	229770731	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1302449	229770731	19479890	156	93268											
C1orf198	84886	broad.mit.edu	37	chr1	230979463	230979463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgatcttccagaatgaCgcttcctcctccttcctggt	7	14	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:230979463C>T	uc001hub.2	-	3	608	c.564G>A	c.(562-564)GCG>GCA	p.A188A	C1orf198_uc009xfh.1_Silent_p.A58A|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Silent_p.A150A	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	188											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCCAGAATGACGCTTCCTCCT	0.642													T	230979463	C	T	230979463	2	4	172	1	0	0	0	0	0	0	0	1	2026	523	19	1		1	C1orf198	1	230979463	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1208732	230979463	18271158	157	93269											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581327	232581327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttcgaggaatggcagCctgggcctgctggagcagct	17	10	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:232581327C>T	uc001hvg.2	-	9	3459	c.3301G>A	c.(3301-3303)GCT>ACT	p.A1101T	SIPA1L2_uc001hvf.2_Missense_Mutation_p.A175T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1101					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAATGGCAGCCTGGGCCTGC	0.662													T	232581327	C	T	232581327	3	4	172	1	0	0	0	0	1	0	0	0	14330	739	26	2	1919	2	SIPA1L2	1	232581327	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1601864	232581327	16669294	158	93270											
PCNXL2	80003	broad.mit.edu	37	chr1	233394590	233394591	+	Frame_Shift_Ins	INS	-	-	C													tcctggtgcaagggcaggtcINScccctggcaggaggtatcta							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:233394589_233394590T>TC	uc001hvl.2	-	4	1253_1254	c.1018_1019A>GA	c.(1018-1020)gacfs	p.D340fs	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	340						integral to membrane		p.D340N(2)		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)				CAAGGGCAGGTCCCCCTGGCAG	0.574													C	233394591	-	C	233394590	7	5	172	1	0	1	1	0	0	0	0	0	11592	855	30	0	5515	0	PCNXL2	1	233394590	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	813263	233394590	15856031	159	93271											
KIAA1804	84451	broad.mit.edu	37	chr1	233507898	233507898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgccccgactccgagCcatacagtgtgagctttctg	10	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:233507898C>T	uc001hvt.3	+	6	1928	c.1667C>T	c.(1666-1668)GCC>GTC	p.A556V	KIAA1804_uc001hvs.1_Missense_Mutation_p.A556V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	556					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CGACTCCGAGCCATACAGTGT	0.547													T	233507898	C	T	233507898	3	4	172	1	0	0	0	0	1	0	0	0	8259	739	26	2	1689	2	KIAA1804	1	233507898	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	113308	233507898	15742723	160	93272											
ARID4B	51742	broad.mit.edu	37	chr1	235345722	235345722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctttttgccaggtgAtccagtttttagacactctt	6	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:235345722A>C	uc001hwq.2	-	20	3010	c.2512T>G	c.(2512-2514)TCA>GCA	p.S838A	ARID4B_uc001hwr.2_Missense_Mutation_p.S752A|ARID4B_uc001hws.3_Missense_Mutation_p.S752A|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.S519A	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	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)			TTGCCAGGTGATCCAGTTTTT	0.373													C	235345722	A	C	235345722	3	2	172	1	0	0	0	0	1	0	0	0	920	333	12	5	1446	5	ARID4B	1	235345722	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1837824	235345722	13904899	161	93273											
ARID4B	51742	broad.mit.edu	37	chr1	235394506	235394507	+	Splice_Site	DEL	TA	TA	-													ttttcttggaactgaagtacTatatattttttttaattata							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:235394505_235394506CTA>C	uc021pks.1	-	10	1043	c.666_splice	c.e10-1	p.F222_splice	ARID4B_uc001hwq.3_Splice_Site_p.F222_splice|ARID4B_uc001hwr.3_Splice_Site_p.F222_splice|ARID4B_uc001hws.4_Splice_Site_p.F222_splice|ARID4B_uc001hwu.1_Splice_Site_p.F222_splice|ARID4B_uc001hwt.4_Splice_Site	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	222					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)			AACTGAAGTACtatatattttt	0.292													-	235394507	TA	-	235394506	8	5	172	1	0	1	0	1	0	0	1	0	920	1536	53	0	3334	0	ARID4B	1	235394506	Splice_Site	DEL	TA	TCGA-CG-4442-01A-01D-1158-08	48784	235394506	13856115	162	93274											
LYST	1130	broad.mit.edu	37	chr1	235840481	235840481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgccagactttgtacatAgcataacctgaaagaaaaaa	6	10	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:235840481A>C	uc001hxj.2	-	50	11123	c.10948T>G	c.(10948-10950)TAT>GAT	p.Y3650D	LYST_uc001hxi.2_Missense_Mutation_p.Y874D	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3650	WD 4.				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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			CTTTGTACATAGCATAACCTG	0.373									Chediak-Higashi_syndrome				C	235840481	A	C	235840481	3	2	172	1	0	0	0	0	1	0	0	0	9128	420	15	5	473	5	LYST	1	235840481	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	445975	235840481	13410140	163	93275											
NID1	4811	broad.mit.edu	37	chr1	236208817	236208817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttataagctccgttgctcTtccataagaatcccactgaa	6	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:236208817T>C	uc001hxo.2	-	3	794	c.692A>G	c.(691-693)AAG>AGG	p.K231R	NID1_uc009xgd.2_Missense_Mutation_p.K231R	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	231	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	TCCGTTGCTCTTCCATAAGAA	0.408													C	236208817	T	C	236208817	3	2	172	1	0	0	0	0	1	0	0	0	10414	1609	56	3	3123	3	NID1	1	236208817	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	368336	236208817	13041804	164	93276											
RYR2	6262	broad.mit.edu	37	chr1	237919637	237919637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataccagcaagcccgactccAcgatcgtggcgcggctgaga	12	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:237919637A>G	uc001hyl.1	+	81	11315	c.11195A>G	c.(11194-11196)CAC>CGC	p.H3732R	RYR2_uc010pya.1_Missense_Mutation_p.H147R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3732					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GCCCGACTCCACGATCGTGGC	0.473													G	237919637	A	G	237919637	3	3	172	1	0	0	0	0	1	0	0	0	13769	159	6	3	11517	3	RYR2	1	237919637	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1710820	237919637	11330984	165	93277											
RGS7	6000	broad.mit.edu	37	chr1	240990446	240990446	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgacttcttaatgtcCacttcagttgtatttacaca	6	9	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:240990446C>A	uc001hyv.2	-	10	966	c.636G>T	c.(634-636)GTG>GTT	p.V212V	RGS7_uc010pyh.1_Silent_p.V186V|RGS7_uc010pyj.1_Silent_p.V128V|RGS7_uc001hyu.2_Silent_p.V212V|RGS7_uc009xgn.1_Silent_p.V159V|RGS7_uc001hyw.2_Silent_p.V212V|RGS7_uc001hyt.2_Silent_p.V44V	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	212					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			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTAATGTCCACTTCAGTTG	0.403													A	240990446	C	A	240990446	2	1	172	1	0	0	0	0	0	0	0	1	13310	581	21	5		5	RGS7	1	240990446	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3070809	240990446	8260175	166	93278											
CHML	1122	broad.mit.edu	37	chr1	241798364	241798364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagaatacagcagtttTgacaccaaatcaatattaaa	5	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:241798364T>C	uc001hzd.2	-	1	869	c.705A>G	c.(703-705)TCA>TCG	p.S235S	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	235					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACAGCAGTTTTGACACCAAAT	0.318													C	241798364	T	C	241798364	2	2	172	1	0	0	0	0	0	0	0	1	3351	1799	63	3		3	CHML	1	241798364	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	807918	241798364	7452257	167	93279											
EXO1	9156	broad.mit.edu	37	chr1	242030359	242030359	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaagaccaagaagtggTacgtatttcagttttgcaaa	10	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:242030359T>C	uc001hzh.2	+	11	1807	c.1267_splice	c.e11+2	p.A423_splice	EXO1_uc001hzi.2_Splice_Site_p.A423_splice|EXO1_uc001hzj.2_Splice_Site_p.A423_splice|EXO1_uc009xgq.2_Splice_Site_p.E423_splice	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAAGAAGTGGTACGTATTTCA	0.264								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	242030359	T	C	242030359	5	2	172	1	0	0	0	0	0	0	1	0	5300	1652	57	3	1299	3	EXO1	1	242030359	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	231995	242030359	7220262	168	93280											
ZNF695	57116	broad.mit.edu	37	chr1	247150914	247150914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaacttaaaggatttgccAcattcttcacatttgtatgg	6	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:247150914A>G	uc009xgu.2	-	4	1048	c.903T>C	c.(901-903)TGT>TGC	p.C301C	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	301	C2H2-type 6.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	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;0.00271)			AGGATTTGCCACATTCTTCAC	0.358													G	247150914	A	G	247150914	2	3	172	1	0	0	0	0	0	0	0	1	18095	157	6	3		3	ZNF695	1	247150914	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	5120555	247150914	2099707	169	93281											
ZNF124	7678	broad.mit.edu	37	chr1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-													gggcttttctccagtatgagTttttttatgcttccaaaggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:247319909delT	uc001ick.2	-	4	1154	c.1015delA	c.(1015-1017)ACTfs	p.T339fs	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	339	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	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)			CCAGTATGAGTTTTTTTATGC	0.368													-	247319909	T	-	247319909	7	5	172	1	0	1	0	1	0	0	0	0	17717	1725	60	0	44	0	ZNF124	1	247319909	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	168995	247319909	1930712	170	93282											
OR2G3	81469	broad.mit.edu	37	chr1	247769239	247769239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtatcctcttggctgacAtggccttggatcggtacatt	10	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:247769239A>G	uc010pyz.1	+	1	352	c.352A>G	c.(352-354)ATG>GTG	p.M118V		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)			CTTGGCTGACATGGCCTTGGA	0.507													G	247769239	A	G	247769239	3	3	172	1	0	0	0	0	1	0	0	0	10999	217	8	3	354	3	OR2G3	1	247769239	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	449330	247769239	1481382	171	93283											
OR2W3	343171	broad.mit.edu	37	chr1	248059019	248059019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcgtaggcaacaccaCcatcatcctggtgtcccggc	9	17	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:248059019C>T	uc001idp.1	+	3	400	c.131C>T	c.(130-132)ACC>ATC	p.T44I	OR2W3_uc010pzb.1_Missense_Mutation_p.T44I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	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)			GGCAACACCACCATCATCCTG	0.577													T	248059019	C	T	248059019	3	4	172	1	0	0	0	0	1	0	0	0	11033	507	18	4	133	4	OR2W3	1	248059019	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	289780	248059019	1191602	172	93284											
OR2M5	127059	broad.mit.edu	37	chr1	248309326	248309326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcccctcatctacagcctcCgcaacaaggaggtgaccaga	8	15	2	2	rs150445512	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:248309326C>A	uc010pze.1	+	1	877	c.877C>A	c.(877-879)CGC>AGC	p.R293S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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)			CTACAGCCTCCGCAACAAGGA	0.493													A	248309326	C	A	248309326	3	1	172	1	0	0	0	0	1	0	0	0	11013	652	23	5	879	5	OR2M5	1	248309326	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	250307	248309326	941295	173	93285											
OR2T27	403239	broad.mit.edu	37	chr1	248813394	248813394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctcaggggtgtggtaAgaatgaggcagcacgtatgt	15	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:248813394A>G	uc010pzo.1	-	1	792	c.792T>C	c.(790-792)TCT>TCC	p.S264S		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	264	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			GGGTGTGGTAAGAATGAGGCA	0.527													G	248813394	A	G	248813394	2	3	172	1	0	0	0	0	0	0	0	1	11021	59	3	3		3	OR2T27	1	248813394	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	504068	248813394	437227	174	93286											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107289	249107289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggacccgagcctcagCctgttggcacagccgagtca	13	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr1:249107289C>T	uc001iew.1	-	6	1162	c.610G>A	c.(610-612)GCT>ACT	p.A204T	SH3BP5L_uc010pzp.1_Missense_Mutation_p.A97T|SH3BP5L_uc010pzq.1_Missense_Mutation_p.A172T|SH3BP5L_uc001iev.1_Missense_Mutation_p.A85T	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	204	Potential.										0	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)			CGAGCCTCAGCCTGTTGGCAC	0.637													T	249107289	C	T	249107289	3	4	172	1	0	0	0	0	1	0	0	0	14248	739	26	2	579	2	SH3BP5L	1	249107289	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	293895	249107289	143332	175	93287											
TMEM18	129787	broad.mit.edu	37	chr2	675542	675542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccgatctgtagtctgTagcttcgggaggacaagcag	14	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:675542T>C	uc002qwl.2	-	2	240	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	49					cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGTAGTCTGTAGCTTCGGGA	0.527													C	675542	T	C	675542	3	2	172	1	0	0	0	0	1	0	0	0	16095	1638	57	3	292	3	TMEM18	2	675542	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08		675542	242523831	176	93288											
TPO	7173	broad.mit.edu	37	chr2	1500522	1500522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggatgggatttccagCctcccctctgcaaaggtcag	12	11	2	0	rs113070603		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1500522C>T	uc002qww.2	+	13	2462	c.2371C>T	c.(2371-2373)CCT>TCT	p.P791S	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.P734S|TPO_uc002qwr.2_Missense_Mutation_p.P791S|TPO_uc002qwx.2_Missense_Mutation_p.P734S|TPO_uc010yio.1_Missense_Mutation_p.P618S|TPO_uc010yip.1_Missense_Mutation_p.P791S|TPO_uc002qwy.1_Missense_Mutation_p.P131S|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	791	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	GGATTTCCAGCCTCCCCTCTG	0.493													T	1500522	C	T	1500522	3	4	172	1	0	0	0	0	1	0	0	0	16407	739	26	2	2417	2	TPO	2	1500522	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	824980	1500522	241698851	177	93289											
TPO	7173	broad.mit.edu	37	chr2	1544465	1544465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccgtagggacctcaccGcagcgggccgcagctcagga	15	15	2	0	rs149611408		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1544465G>A	uc002qww.2	+	16	2809	c.2718G>A	c.(2716-2718)CCG>CCA	p.P906P	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.P849P|TPO_uc002qwr.2_Silent_p.P906P|TPO_uc002qwx.2_Silent_p.P849P|TPO_uc010yio.1_Silent_p.P733P|TPO_uc010yip.1_Silent_p.P862P|TPO_uc002qwy.1_Silent_p.P202P|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	906	Cytoplasmic (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	GGACCTCACCGCAGCGGGCCG	0.642													A	1544465	G	A	1544465	2	1	172	1	0	0	0	0	0	0	0	1	16407	1074	38	1		1	TPO	2	1544465	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	43943	1544465	241654908	178	93290											
PXDN	7837	broad.mit.edu	37	chr2	1670198	1670198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcgctgcactccagcGtgacgctctccccaaccagc	10	18	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1670198G>A	uc002qxa.2	-	10	1143	c.1079C>T	c.(1078-1080)ACG>ATG	p.T360M	PXDN_uc002qxb.1_Missense_Mutation_p.T360M|PXDN_uc002qxc.1_Missense_Mutation_p.T177M	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	360	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	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)		GCACTCCAGCGTGACGCTCTC	0.572													A	1670198	G	A	1670198	3	1	172	1	0	0	0	0	1	0	0	0	12847	1145	40	1	3416	1	PXDN	2	1670198	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	125733	1670198	241529175	179	93291											
PXDN	7837	broad.mit.edu	37	chr2	1684063	1684063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcgttccccgactccGcgtaggttttcagcaaatcc	9	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1684063G>A	uc002qxa.2	-	7	696	c.632C>T	c.(631-633)GCG>GTG	p.A211V	PXDN_uc002qxb.1_Missense_Mutation_p.A211V|PXDN_uc002qxc.1_Missense_Mutation_p.A28V	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	211	LRRCT.				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			pancreas(6)|ovary(2)	8	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)		CCCCGACTCCGCGTAGGTTTT	0.577													A	1684063	G	A	1684063	3	1	172	1	0	0	0	0	1	0	0	0	12847	1087	38	1	3875	1	PXDN	2	1684063	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	13865	1684063	241515310	180	93292											
MYT1L	23040	broad.mit.edu	37	chr2	1926341	1926341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatgacacccatcctccttCgcacagctggcaaacactct	5	17	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:1926341C>T	uc002qxe.2	-	10	2027	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A	MYT1L_uc002qxd.2_Silent_p.A400A|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	400					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		CATCCTCCTTCGCACAGCTGG	0.597													T	1926341	C	T	1926341	2	4	172	1	0	0	0	0	0	0	0	1	10107	871	31	1		1	MYT1L	2	1926341	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	242278	1926341	241273032	181	93293											
COLEC11	78989	broad.mit.edu	37	chr2	3687869	3687869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttttttattttcaggTgagaaaggagattccggtga	11	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:3687869T>C	uc002qya.2	+	5	424	c.276T>C	c.(274-276)GGT>GGC	p.G92G	COLEC11_uc002qxz.2_Silent_p.G89G|COLEC11_uc002qyb.2_Silent_p.G68G|COLEC11_uc002qyc.2_Silent_p.G68G|COLEC11_uc010ewo.2_Silent_p.G44G|COLEC11_uc010ewp.2_Silent_p.G66G|COLEC11_uc010ewq.2_Silent_p.G42G|COLEC11_uc010ewr.2_Silent_p.G42G|COLEC11_uc010ews.2_Silent_p.G18G	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	92	Collagen-like.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TATTTTCAGGTGAGAAAGGAG	0.388													C	3687869	T	C	3687869	2	2	172	1	0	0	0	0	0	0	0	1	3711	1710	59	3		3	COLEC11	2	3687869	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1761528	3687869	239511504	182	93294											
RNF144A	9781	broad.mit.edu	37	chr2	7160688	7160689	+	Frame_Shift_Ins	INS	-	-	C													caggacgtggggctgcagacINScccccagccagtgcagtgca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:7160687_7160688A>AC	uc002qys.3	+	5	827_828	c.385_386A>AC	c.(385-387)accfs	p.T129fs		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	129						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GGGGCTGCAGACCCCCCAGCCA	0.629													C	7160689	-	C	7160688	7	5	172	1	0	1	1	0	0	0	0	0	13445	507	18	0	400	0	RNF144A	2	7160688	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	3472819	7160688	236038685	183	93295											
HPCAL1	3241	broad.mit.edu	37	chr2	10566920	10566920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtccgcctgctgcagtgCgaccccagcagtgccagtca	11	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:10566920C>T	uc002raj.2	+	5	929	c.555C>T	c.(553-555)TGC>TGT	p.C185C	HPCAL1_uc002rak.2_Silent_p.C185C|HPCAL1_uc002ral.2_Silent_p.C185C|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.C185C	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	185							calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TGCTGCAGTGCGACCCCAGCA	0.572													T	10566920	C	T	10566920	2	4	172	1	0	0	0	0	0	0	0	1	7330	776	27	1		1	HPCAL1	2	10566920	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3406232	10566920	232632453	184	93296											
MSGN1	343930	broad.mit.edu	37	chr2	17998228	17998228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgccctgcacaccctccGgaattacctgccacctgtct	7	17	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:17998228G>A	uc010yjt.1	+	1	443	c.443G>A	c.(442-444)CGG>CAG	p.R148Q		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	148	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACACCCTCCGGAATTACCTG	0.572													A	17998228	G	A	17998228	3	1	172	1	0	0	0	0	1	0	0	0	9869	1116	39	1	445	1	MSGN1	2	17998228	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	7431308	17998228	225201145	185	93297											
WDR35	57539	broad.mit.edu	37	chr2	20130156	20130156	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattaggtgacatgcccaCctgtcttcagtgcagtgtcc	9	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:20130156C>T	uc002rdi.2	-	26	3262	c.3154_splice	c.e26+1	p.A1052_splice	WDR35_uc002rdj.2_Splice_Site_p.A1041_splice|WDR35_uc010ext.2_Splice_Site|WDR35_uc002rdh.2_Splice_Site_p.V525_splice	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1											ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACATGCCCACCTGTCTTCAG	0.423													T	20130156	C	T	20130156	5	4	172	1	0	0	0	0	0	0	1	0	17286	521	18	4	402	4	WDR35	2	20130156	Splice_Site	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2131928	20130156	223069217	186	93298											
GDF7	151449	broad.mit.edu	37	chr2	20870891	20870891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgctgcagccgcaagccGttgcacgtggacttcaagga	13	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:20870891G>A	uc002rdz.1	+	2	1635	c.1059G>A	c.(1057-1059)CCG>CCA	p.P353P		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	353					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCAAGCCGTTGCACGTGG	0.537													A	20870891	G	A	20870891	2	1	172	1	0	0	0	0	0	0	0	1	6318	1132	40	1		1	GDF7	2	20870891	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	740735	20870891	222328482	187	93299											
POMC	5443	broad.mit.edu	37	chr2	25384348	25384348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggagtaggagcgctTgccctcgcgcgggcccggct	15	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:25384348T>C	uc002rfy.1	-	4	669	c.406A>G	c.(406-408)AAG>GAG	p.K136E	POMC_uc002rfz.1_Missense_Mutation_p.K136E|POMC_uc002rga.1_Missense_Mutation_p.K136E	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	136					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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TAGGAGCGCTTGCCCTCGCGC	0.721													C	25384348	T	C	25384348	3	2	172	1	0	0	0	0	1	0	0	0	12242	1821	63	3	401	3	POMC	2	25384348	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4513457	25384348	217815025	188	93300											
DNMT3A	1788	broad.mit.edu	37	chr2	25523110	25523110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctcctgctcctctccGtcctgcaggcacagacacag	9	18	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:25523110G>A	uc002rgc.2	-	3	332	c.75C>T	c.(73-75)GAC>GAT	p.D25D	DNMT3A_uc002rgd.2_Silent_p.D25D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Silent_p.D22D|DNMT3A_uc002rgf.2_Silent_p.D25D	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	25					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCTCTCCGTCCTGCAGGC	0.687			Mis|F|N|S		AML								A	25523110	G	A	25523110	2	1	172	1	0	0	0	0	0	0	0	1	4676	1136	40	1		1	DNMT3A	2	25523110	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	138762	25523110	217676263	189	93301											
OTOF	9381	broad.mit.edu	37	chr2	26684657	26684657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgtcccaggagaacaTggactccttcttggagatga	12	10	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:26684657T>C	uc002rhk.2	-	43	5567	c.5440A>G	c.(5440-5442)ATG>GTG	p.M1814V	OTOF_uc010yla.1_Missense_Mutation_p.M544V|OTOF_uc002rhh.2_Missense_Mutation_p.M1047V|OTOF_uc002rhi.2_Missense_Mutation_p.M1124V|OTOF_uc002rhj.2_Missense_Mutation_p.M1047V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1814	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGAACATGGACTCCTTC	0.607													C	26684657	T	C	26684657	3	2	172	1	0	0	0	0	1	0	0	0	11303	1464	51	3	754	3	OTOF	2	26684657	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1161547	26684657	216514716	190	93302											
EMILIN1	11117	broad.mit.edu	37	chr2	27306603	27306603	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccggccagtgccccAgcttagaggggcgattgggc	16	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27306603A>C	uc002rii.3	+	4	2592	c.2164A>C	c.(2164-2166)AGC>CGC	p.S722R	EMILIN1_uc002rik.3_5'UTR	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	722	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTGCCCCAGCTTAGAGGG	0.627													C	27306603	A	C	27306603	3	2	172	1	0	0	0	0	1	0	0	0	5093	188	7	5	2178	5	EMILIN1	2	27306603	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	621946	27306603	215892770	191	93303											
EIF2B4	8890	broad.mit.edu	37	chr2	27591882	27591882	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaagatacctgagggggTttctccagctgtgctggggc	17	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27591882T>G	uc002rkb.2	-	4	552	c.409A>C	c.(409-411)ACC>CCC	p.T137P	EIF2B4_uc002rjz.2_Missense_Mutation_p.T157P|EIF2B4_uc002rka.2_Missense_Mutation_p.T122P|EIF2B4_uc002rkc.2_Missense_Mutation_p.T136P|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.T106P|EIF2B4_uc002rkf.1_Missense_Mutation_p.T106P|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	137					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGGGGGTTTCTCCAGCT	0.552													G	27591882	T	G	27591882	3	3	172	1	0	0	0	0	1	0	0	0	5003	1725	60	5	1202	5	EIF2B4	2	27591882	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	285279	27591882	215607491	192	93304											
C2orf16	84226	broad.mit.edu	37	chr2	27801187	27801187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggaaacagtggagttgaCagggtttcaaattgtaaaaa	11	3	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27801187C>T	uc002rkz.3	+	1	1799	c.1748C>T	c.(1747-1749)ACA>ATA	p.T583I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	583										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTGGAGTTGACAGGGTTTCAA	0.413													T	27801187	C	T	27801187	3	4	172	1	0	0	0	0	1	0	0	0	2157	478	17	4	1750	4	C2orf16	2	27801187	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	209305	27801187	215398186	193	93305											
C2orf16	84226	broad.mit.edu	37	chr2	27803773	27803773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagccaagaagagcttActctttccaacccagacctc	5	15	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:27803773A>G	uc002rkz.3	+	1	4385	c.4334A>G	c.(4333-4335)TAC>TGC	p.Y1445C	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1445										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					AGAAGAGCTTACTCTTTCCAA	0.527													G	27803773	A	G	27803773	3	3	172	1	0	0	0	0	1	0	0	0	2157	391	14	3	4336	3	C2orf16	2	27803773	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2586	27803773	215395600	194	93306											
RBKS	64080	broad.mit.edu	37	chr2	28050499	28050499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggttctgtctgtgacaGcaccacacatccttcagccc	7	16	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:28050499G>A	uc002rlo.1	-	7	741	c.730C>T	c.(730-732)CTG>TTG	p.L244L	RBKS_uc010ezi.1_Silent_p.L177L|RBKS_uc010ymg.1_Silent_p.L244L	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	244					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					GTCTGTGACAGCACCACACAT	0.493													A	28050499	G	A	28050499	2	1	172	1	0	0	0	0	0	0	0	1	13108	962	34	2		2	RBKS	2	28050499	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	246726	28050499	215148874	195	93307											
TTC27	55622	broad.mit.edu	37	chr2	32961876	32961876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaaagagccgggcagcAcggaaaggtatgtaatagtc	13	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:32961876A>G	uc002rom.2	+	12	1676	c.1445A>G	c.(1444-1446)CAC>CGC	p.H482R	TTC27_uc010ymx.1_Missense_Mutation_p.H432R|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	482	TPR 2.						protein binding			central_nervous_system(1)	1						GCCGGGCAGCACGGAAAGGTA	0.423													G	32961876	A	G	32961876	3	3	172	1	0	0	0	0	1	0	0	0	16692	159	6	3	1491	3	TTC27	2	32961876	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4911377	32961876	210237497	196	93308											
DHX57	90957	broad.mit.edu	37	chr2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttataatgacctggaagggCgccttgattcactgaagata	11	7	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:39095333C>T	uc002rrf.2	-	2	314	c.215G>A	c.(214-216)CGC>CAC	p.R72H	DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R72H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.338													T	39095333	C	T	39095333	3	4	172	1	0	0	0	0	1	0	0	0	4513	768	27	1	4037	1	DHX57	2	39095333	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	6133457	39095333	204104040	197	93309											
SLC8A1	6546	broad.mit.edu	37	chr2	40401985	40401985	+	Splice_Site	DEL	A	A	-													ctgttattgtgaagccacctAaaaaagaaaaaaacaacaac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:40401984_40401984TA>T	uc002rrx.3	-	4	1961	c.1937_splice	c.e4-1	p.G646_splice	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.G646_splice|SLC8A1_uc002rsb.2_Splice_Site_p.G638_splice|SLC8A1_uc002rrz.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsa.3_Splice_Site_p.G638_splice|SLC8A1_uc002rsd.4_Splice_Site_p.G638_splice	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	646					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)	TGAAGCCACCTAAAAAAGAAA	0.333													-	40401985	A	-	40401985	8	5	172	1	0	1	0	1	0	0	1	0	14706	377	13	0		0	SLC8A1	2	40401985	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1306652	40401985	202797388	198	93310											
PKDCC	91461	broad.mit.edu	37	chr2	42281307	42281307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgacggacctggatgaCgcacgtgtggaggagacgcc	16	9	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:42281307C>T	uc002rsg.2	+	3	1073	c.894C>T	c.(892-894)GAC>GAT	p.D298D		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	298	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						ACCTGGATGACGCACGTGTGG	0.647													T	42281307	C	T	42281307	2	4	172	1	0	0	0	0	0	0	0	1	11969	535	19	1		1	PKDCC	2	42281307	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1879322	42281307	200918066	199	93311											
COX7A2L	9167	broad.mit.edu	37	chr2	42578377	42578377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatttgtttttgggctgCgaagccatgtagagggcgat	13	7	1	1	rs79591809	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:42578377C>T	uc002rsk.2	-	3	382	c.327G>A	c.(325-327)TCG>TCA	p.S109S	COX7A2L_uc002rsl.2_RNA	NM_004718	NP_004709	O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	109					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0						TTTTGGGCTGCGAAGCCATGT	0.453													T	42578377	C	T	42578377	2	4	172	1	0	0	0	0	0	0	0	1	3781	755	27	1		1	COX7A2L	2	42578377	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	297070	42578377	200620996	200	93312											
MCFD2	90411	broad.mit.edu	37	chr2	47135054	47135054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgcaattcttgtggCgacatctccgcctctggttt	11	11	3	0	rs144700781		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:47135054C>T	uc002rvk.2	-	3	298	c.204G>A	c.(202-204)TCG>TCA	p.S68S	MCFD2_uc002rvl.2_Silent_p.S16S|MCFD2_uc010fba.2_Silent_p.S66S|MCFD2_uc010yof.1_Silent_p.S49S	NM_139279	NP_644808	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	68	EF-hand 1.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding			central_nervous_system(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	ATTCTTGTGGCGACATCTCCG	0.428													T	47135054	C	T	47135054	2	4	172	1	0	0	0	0	0	0	0	1	9381	755	27	1		1	MCFD2	2	47135054	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4556677	47135054	196064319	201	93313											
PSME4	23198	broad.mit.edu	37	chr2	54164655	54164655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattcttctagcatctcagCggtggcatctgctggaaaat	9	11	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:54164655C>T	uc002rxp.2	-	5	624	c.568G>A	c.(568-570)GCT>ACT	p.A190T	PSME4_uc010yop.1_Missense_Mutation_p.A76T|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	190					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			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCATCTCAGCGGTGGCATCT	0.368													T	54164655	C	T	54164655	3	4	172	1	0	0	0	0	1	0	0	0	12709	768	27	1	5131	1	PSME4	2	54164655	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	7029601	54164655	189034718	202	93314											
SPTBN1	6711	broad.mit.edu	37	chr2	54895695	54895695	+	Frame_Shift_Del	DEL	A	A	-													agcggttcagcctttttggcAaaaagaaatgaactcctttc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:54895695delA	uc002rxu.2	+	36	7333	c.7084delA	c.(7084-7086)AAAfs	p.K2362fs	SPTBN1_uc010you.1_Frame_Shift_Del_p.K352fs	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2362					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CCTTTTTGGCAAAAAGAAATG	0.502													-	54895695	A	-	54895695	7	5	172	1	0	1	0	1	0	0	0	0	15118	131	5	0	7422	0	SPTBN1	2	54895695	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	731040	54895695	188303678	203	93315											
CCDC88A	55704	broad.mit.edu	37	chr2	55561924	55561925	+	Frame_Shift_Ins	INS	-	-	T													atttttaaagctatccaatgINSttttttttaattttctattt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:55561924_55561925insT	uc002ryv.2	-	15	2874_2875	c.2032_2033insA	c.(2032-2034)ACAfs	p.T678fs	CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	678	Potential.				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			ovary(2)|skin(2)	4						GCTATCCAATGTTTTTTTTAAT	0.287													T	55561925	-	T	55561924	7	5	172	1	0	1	1	0	0	0	0	0	2863	1377	48	0	3654	0	CCDC88A	2	55561924	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	666229	55561924	187637449	204	93316	451	2									
CCDC88A	55704	broad.mit.edu	37	chr2	55561925	55561926	+	Frame_Shift_Ins	INS	-	-	T													tttttaaagctatccaatgtINStttttttaattttctatttt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:55561924_55561925G>GT	uc002ryv.2	-	14	2874_2875	c.2032_2033C>AC	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|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						GCTATCCAATGTTTTTTTTAAT	0.287													T	55561926	-	T	55561925	7	5	172	1	0	1	1	0	0	0	0	0	2863	1725	60	0	3655	0	CCDC88A	2	55561925	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	55561925	187637448	205	93317	451	2									
EHBP1	23301	broad.mit.edu	37	chr2	63176204	63176205	+	Frame_Shift_Ins	INS	-	-	A													gagatctagaccttgctaagINSaaaaaacatgcttccctgag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:63176204_63176205insA	uc002sby.2	+	14	2810_2811	c.2328_2329insA	c.(2326-2331)AAGAAAfs	p.K776fs	EHBP1_uc010fcp.2_Frame_Shift_Ins_p.K741fs|EHBP1_uc002sbz.2_Frame_Shift_Ins_p.K741fs|EHBP1_uc002scb.2_Frame_Shift_Ins_p.K741fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	776_777						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTTGCTAAGAAAAAACATGC	0.376									Hereditary_Prostate_Cancer				A	63176205	-	A	63176204	7	5	172	1	0	1	1	0	0	0	0	0	4975	933	33	0	2378	0	EHBP1	2	63176204	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	7614279	63176204	180023169	206	93318	452	2									
EHBP1	23301	broad.mit.edu	37	chr2	63176205	63176206	+	Frame_Shift_Ins	INS	-	-	A													agatctagaccttgctaagaINSaaaaacatgcttccctgagg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:63176204_63176205G>GA	uc002sby.3	+	13	2810_2811	c.2328_2329G>GA	c.(2326-2331)aagaaafs	p.K776fs	EHBP1_uc010fcp.3_Frame_Shift_Ins_p.K741fs|EHBP1_uc002sbz.3_Frame_Shift_Ins_p.K741fs|EHBP1_uc002scb.3_Frame_Shift_Ins_p.K741fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	776						cytoplasm|membrane		p.K776K(2)		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)			ACCTTGCTAAGAAAAAACATGC	0.376													A	63176206	-	A	63176205	7	5	172	1	0	1	1	0	0	0	0	0	4975	247	9	0	2379	0	EHBP1	2	63176205	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	63176205	180023168	207	93319	452	2									
AFTPH	54812	broad.mit.edu	37	chr2	64779844	64779844	+	Frame_Shift_Del	DEL	A	A	-													ttggatgattctttaagtgtAaaaaatggtgatagtagtaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:64779843_64779843TA>T	uc002sdc.3	+	0	1267	c.1235_1235TA>T	c.(1234-1236)gtafs	p.V412fs	AFTPH_uc002scz.3_Frame_Shift_Del_p.V412fs|AFTPH_uc002sda.3_Frame_Shift_Del_p.V412fs|AFTPH_uc002sdb.3_Frame_Shift_Del_p.V412fs	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	412					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TCTTTAAGTGTAAAAAATGGT	0.363													-	64779844	A	-	64779844	7	5	172	1	0	1	0	1	0	0	0	0	364	349	13	0	1238	0	AFTPH	2	64779844	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1603639	64779844	178419529	208	93320											
FBXO48	554251	broad.mit.edu	37	chr2	68692195	68692195	+	Frame_Shift_Del	DEL	T	T	-													aaaagttgttttgactctcaTttttttccttctcagcatcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:68692194_68692194AT>A	uc002seo.3	-	2	492	c.84_84AT>T	c.(82-84)aatfs	p.N28fs	APLF_uc010fdf.2_5'Flank|APLF_uc002sep.3_5'Flank	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	28										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTTGACTCTCATTTTTTTCCT	0.368													-	68692195	T	-	68692195	7	5	172	1	0	1	0	1	0	0	0	0	5757	1493	52	0	392	0	FBXO48	2	68692195	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	3912351	68692195	174507178	209	93321											
ARHGAP25	9938	broad.mit.edu	37	chr2	69049486	69049486	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctagacaagcgactctgaTacaaccagccccaccggaca	7	15	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:69049486T>C	uc002seu.2	+	10	1576	c.1212T>C	c.(1210-1212)GAT>GAC	p.D404D	ARHGAP25_uc010fdg.2_Silent_p.D405D|ARHGAP25_uc010yql.1_Silent_p.D365D|ARHGAP25_uc002sew.2_Silent_p.D397D|ARHGAP25_uc002sex.2_Silent_p.D398D|ARHGAP25_uc002sey.2_Silent_p.D131D	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	404					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GCGACTCTGATACAACCAGCC	0.517													C	69049486	T	C	69049486	2	2	172	1	0	0	0	0	0	0	0	1	874	1403	49	3		3	ARHGAP25	2	69049486	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	357291	69049486	174149887	210	93322											
AAK1	22848	broad.mit.edu	37	chr2	69741805	69741805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattctgcattagctgcTgttgagagcctccttgggac	11	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:69741805T>G	uc002sfp.2	-	13	2079	c.1574A>C	c.(1573-1575)CAG>CCG	p.Q525P	AAK1_uc010fdk.2_Missense_Mutation_p.Q525P|AAK1_uc010yqm.1_Missense_Mutation_p.Q525P	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	525	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						CATTAGCTGCTGTTGAGAGCC	0.388													G	69741805	T	G	69741805	3	3	172	1	0	0	0	0	1	0	0	0	16	1580	55	5	1351	5	AAK1	2	69741805	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	692319	69741805	173457568	211	93323											
ADD2	119	broad.mit.edu	37	chr2	70933540	70933540	+	Frame_Shift_Del	DEL	T	T	-													ggggaccgtctcttcgctcaTtttcccggtgggtttgcaat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:70933540delT	uc002sgz.2	-	3	466	c.1delA	c.(1-3)ATGfs	p.M1fs	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Frame_Shift_Del_p.M1fs|ADD2_uc002sha.2_Frame_Shift_Del_p.M1fs|ADD2_uc002sgx.2_Frame_Shift_Del_p.M1fs|ADD2_uc010fdt.1_Frame_Shift_Del_p.M1fs|ADD2_uc002shc.1_Frame_Shift_Del_p.M1fs|ADD2_uc002shd.1_Frame_Shift_Del_p.M1fs|ADD2_uc010fdu.1_Frame_Shift_Del_p.M17fs	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	1					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			ovary(2)|pancreas(1)	3						TCTTCGCTCATTTTCCCGGTG	0.617													-	70933540	T	-	70933540	7	5	172	1	0	1	0	1	0	0	0	0	305	1493	52	0	2416	0	ADD2	2	70933540	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1191735	70933540	172265833	212	93324											
ZNF638	27332	broad.mit.edu	37	chr2	71577170	71577170	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgattaattcatctaacgtAcatgttggatcaagaggaag	10	5	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:71577170A>G	uc002shx.2	+	2	1405	c.1086A>G	c.(1084-1086)GTA>GTG	p.V362V	ZNF638_uc010fec.2_Silent_p.V468V|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Silent_p.V362V|ZNF638_uc002shy.2_Silent_p.V362V|ZNF638_uc002shz.2_Silent_p.V362V|ZNF638_uc002sia.2_Silent_p.V362V|ZNF638_uc002sib.1_Silent_p.V362V	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	362					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CATCTAACGTACATGTTGGAT	0.428													G	71577170	A	G	71577170	2	3	172	1	0	0	0	0	0	0	0	1	18052	378	14	3		3	ZNF638	2	71577170	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	643630	71577170	171622203	213	93325											
ACTG2	72	broad.mit.edu	37	chr2	74128518	74128519	+	Frame_Shift_Ins	INS	-	-	C													ggcttcgcaggagatgatgcINScccccgggctgtcttcccct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74128517_74128518G>GC	uc002sjw.3	+	1	201_202	c.79_80G>GC	c.(79-81)gccfs	p.A27fs	ACTG2_uc010fex.1_Frame_Shift_Ins_p.A27fs|ACTG2_uc010yrn.2_Frame_Shift_Ins_p.A27fs|ACTG2_uc010fey.3_Frame_Shift_Ins_p.A27fs	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	27					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGAGATGATGCCCCCCGGGCT	0.619													C	74128519	-	C	74128518	7	5	172	1	0	1	1	0	0	0	0	0	197	739	26	0	82	0	ACTG2	2	74128518	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2551348	74128518	169070855	214	93326											
TET3	200424	broad.mit.edu	37	chr2	74274090	74274090	+	Frame_Shift_Del	DEL	A	A	-													tgccctgagcattgccaaggAaaaaaacatcagcttgcaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74274089_74274089GA>G	uc002skb.4	+	0	640	c.640_640GA>G	c.(640-642)gaafs	p.E214fs	TET3_uc010fez.2_Frame_Shift_Del_p.E214fs	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	214							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						CATTGCCAAGGAAAAAAACAT	0.612													-	74274090	A	-	74274090	7	5	172	1	0	1	0	1	0	0	0	0	15768	246	9	0	643	0	TET3	2	74274090	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	145572	74274090	168925283	215	93327											
CCDC142	84865	broad.mit.edu	37	chr2	74702431	74702431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgaccaagggcaggggCctgggcttgaggtggcaacc	17	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74702431C>T	uc002slr.2	-	7	2110	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.A566T|CCDC142_uc002slp.2_Missense_Mutation_p.A573T	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	573										central_nervous_system(1)	1						AGGGCAGGGGCCTGGGCTTGA	0.572													T	74702431	C	T	74702431	3	4	172	1	0	0	0	0	1	0	0	0	2776	739	26	2	547	2	CCDC142	2	74702431	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	428341	74702431	168496942	216	93328											
DQX1	165545	broad.mit.edu	37	chr2	74746779	74746779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggaagttcaattcgttgCatgagttctaggagttctcc	11	7	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74746779C>T	uc010yrw.1	-	10	1875	c.1710G>A	c.(1708-1710)ATG>ATA	p.M570I	DQX1_uc002smc.2_Missense_Mutation_p.M131I	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	570						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CAATTCGTTGCATGAGTTCTA	0.512													T	74746779	C	T	74746779	3	4	172	1	0	0	0	0	1	0	0	0	4751	710	25	2	455	2	DQX1	2	74746779	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	44348	74746779	168452594	217	93329											
DQX1	165545	broad.mit.edu	37	chr2	74747154	74747155	+	Frame_Shift_Ins	INS	-	-	G													gtggaggacgggtaaacccaINSggggcagctggaggcagaag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74747154_74747155insG	uc010yrw.1	-	9	1667_1668	c.1502_1503insC	c.(1501-1503)CCTfs	p.P501fs	DQX1_uc002smc.2_Frame_Shift_Ins_p.P62fs	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	501						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						GGGTAAACCCAGGGGCAGCTGG	0.54													G	74747155	-	G	74747154	7	5	172	1	0	1	1	0	0	0	0	0	4751	175	7	0	666	0	DQX1	2	74747154	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	375	74747154	168452219	218	93330	453	2									
DQX1	165545	broad.mit.edu	37	chr2	74747155	74747156	+	Frame_Shift_Ins	INS	-	-	G													tggaggacgggtaaacccagINSgggcagctggaggcagaaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:74747154_74747155A>AG	uc010yrw.2	-	8	1667_1668	c.1502_1503T>CT	c.(1501-1503)cctfs	p.P501fs	DQX1_uc002smc.3_Frame_Shift_Ins_p.P62fs	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	501						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						GGGTAAACCCAGGGGCAGCTGG	0.54													G	74747156	-	G	74747155	7	5	172	1	0	1	1	0	0	0	0	0	4751	1000	35	0	667	0	DQX1	2	74747155	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	74747155	168452218	219	93331	453	2									
TACR1	6869	broad.mit.edu	37	chr2	75347784	75347784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctctgtggttgagtagTagccctgggggaaggccagc	17	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:75347784T>C	uc002sng.2	-	2	1085	c.500A>G	c.(499-501)TAC>TGC	p.Y167C	TACR1_uc002snh.2_Missense_Mutation_p.Y167C	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	167	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGTTGAGTAGTAGCCCTGGGG	0.547													C	75347784	T	C	75347784	3	2	172	1	0	0	0	0	1	0	0	0	15502	1638	57	3	743	3	TACR1	2	75347784	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	600629	75347784	167851589	220	93332											
CTNNA2	1496	broad.mit.edu	37	chr2	80773145	80773145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgagtgttgacagaggcCgtggatgacatcacctcagt	13	10	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:80773145C>T	uc010ysh.1	+	10	1502	c.1497C>T	c.(1495-1497)GCC>GCT	p.A499A	CTNNA2_uc010yse.1_Silent_p.A499A|CTNNA2_uc010ysf.1_Silent_p.A499A|CTNNA2_uc010ysg.1_Silent_p.A499A|CTNNA2_uc010ysi.1_Silent_p.A131A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	499					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGACAGAGGCCGTGGATGACA	0.532													T	80773145	C	T	80773145	2	4	172	1	0	0	0	0	0	0	0	1	4013	639	23	1		1	CTNNA2	2	80773145	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	5425361	80773145	162426228	221	93333											
SUCLG1	8802	broad.mit.edu	37	chr2	84668521	84668521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagcttcattaatggcAgcagcagcaaaaggcggagg	12	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:84668521A>G	uc002son.2	-	4	574	c.381T>C	c.(379-381)GCT>GCC	p.A127A	SUCLG1_uc010ysk.1_Silent_p.A114A	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	127					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	CATTAATGGCAGCAGCAGCAA	0.453													G	84668521	A	G	84668521	2	3	172	1	0	0	0	0	0	0	0	1	15363	175	7	3		3	SUCLG1	2	84668521	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3895376	84668521	158530852	222	93334											
TCF7L1	83439	broad.mit.edu	37	chr2	85536512	85536512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccgtccttccccgccaCgctccatgcccaccaggccc	6	25	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:85536512C>T	uc002soy.2	+	12	1768	c.1694C>T	c.(1693-1695)ACG>ATG	p.T565M		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	565					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						TTCCCCGCCACGCTCCATGCC	0.697													T	85536512	C	T	85536512	3	4	172	1	0	0	0	0	1	0	0	0	15694	536	19	1	1740	1	TCF7L1	2	85536512	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	867991	85536512	157662861	223	93335											
GGCX	2677	broad.mit.edu	37	chr2	85779652	85779652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcatattgcttcagcatGtctgcatgatccttccatcg	9	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:85779652G>A	uc002sps.2	-	10	1432	c.1326C>T	c.(1324-1326)GAC>GAT	p.D442D	GGCX_uc010yss.1_Silent_p.D281D|GGCX_uc010yst.1_Silent_p.D385D	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	442	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCTTCAGCATGTCTGCATGAT	0.478											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	85779652	G	A	85779652	2	1	172	1	0	0	0	0	0	0	0	1	6356	1368	48	4		4	GGCX	2	85779652	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	243140	85779652	157419721	224	93336											
POLR1A	25885	broad.mit.edu	37	chr2	86266558	86266558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggtgtcttgatgttggcGctggccaccatgagaatctc	13	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:86266558G>A	uc002sqs.2	-	26	4147	c.3768C>T	c.(3766-3768)AGC>AGT	p.S1256S	POLR1A_uc010ytb.1_Silent_p.S622S|POLR1A_uc002sqt.1_Silent_p.S279S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1256					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			ovary(2)|skin(1)	3						TGATGTTGGCGCTGGCCACCA	0.522													A	86266558	G	A	86266558	2	1	172	1	0	0	0	0	0	0	0	1	12209	1078	38	1		1	POLR1A	2	86266558	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	486906	86266558	156932815	225	93337											
SNRNP200	23020	broad.mit.edu	37	chr2	96956125	96956125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtcaggaagctttgaaAccatctggctttcaatagga	10	8	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:96956125A>G	uc002svu.2	-	20	2767	c.2681T>C	c.(2680-2682)GTT>GCT	p.V894A	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	894	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						AAGCTTTGAAACCATCTGGCT	0.478													G	96956125	A	G	96956125	3	3	172	1	0	0	0	0	1	0	0	0	14852	43	2	3	3833	3	SNRNP200	2	96956125	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	10689567	96956125	146243248	226	93338											
ZAP70	7535	broad.mit.edu	37	chr2	98354255	98354255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggccgctcaagtggtaCgcacccgaatgcatcaactt	10	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:98354255C>T	uc002syd.1	+	12	1725	c.1518C>T	c.(1516-1518)TAC>TAT	p.Y506Y	ZAP70_uc002sye.1_Silent_p.Y396Y|ZAP70_uc002syf.1_Silent_p.Y199Y	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	506	Protein kinase.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TCAAGTGGTACGCACCCGAAT	0.632													T	98354255	C	T	98354255	2	4	172	1	0	0	0	0	0	0	0	1	17511	547	19	1		1	ZAP70	2	98354255	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1398130	98354255	144845118	227	93339											
UNC50	25972	broad.mit.edu	37	chr2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-													cattttgcattttatccagcTttttttcatcaaccgtaagt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99232794_99232794CT>C	uc010yvl.2	+	3	811	c.577_577CT>C	c.(577-579)cttfs	p.L193fs	UNC50_uc002szc.4_Frame_Shift_Del_p.L176fs|UNC50_uc002szb.3_Frame_Shift_Del_p.L176fs	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	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						TTTTATCCAGCTTTTTTTCAT	0.413													-	99232795	T	-	99232795	7	5	172	1	0	1	0	1	0	0	0	0	16987	1609	56	0	537	0	UNC50	2	99232795	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	878540	99232795	143966578	228	93340											
TSGA10	80705	broad.mit.edu	37	chr2	99695187	99695187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatccaaacatgcttgcaGgcattccttttctttagcca	5	11	1	0	rs17852533		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99695187G>T	uc002szg.3	-	10	1445	c.817C>A	c.(817-819)CTG>ATG	p.L273M	TSGA10_uc002szh.3_Missense_Mutation_p.L273M|TSGA10_uc002szi.3_Missense_Mutation_p.L273M|TSGA10_uc010fin.1_Missense_Mutation_p.L273M|TSGA10_uc010yvn.1_Missense_Mutation_p.L273M	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	273				L -> M (in Ref. 5; AAH28366).	spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						CATGCTTGCAGGCATTCCTTT	0.378													T	99695187	G	T	99695187	3	4	172	1	0	0	0	0	1	0	0	0	16614	991	35	5	1319	5	TSGA10	2	99695187	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	462392	99695187	143504186	229	93341											
C2orf15	150590	broad.mit.edu	37	chr2	99767017	99767017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacatttgttcagctaTcctaatgggattttcactta	5	9	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99767017T>C	uc002szk.2	+	4	497	c.98T>C	c.(97-99)ATC>ACC	p.I33T	TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	hypothetical protein LOC150590	33											0						TGTTCAGCTATCCTAATGGGA	0.328													C	99767017	T	C	99767017	3	2	172	1	0	0	0	0	1	0	0	0	2156	1435	50	3	104	3	C2orf15	2	99767017	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	71830	99767017	143432356	230	93342											
EIF5B	9669	broad.mit.edu	37	chr2	99978135	99978135	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaagctgaaagaaaaagaAgagttagaaacaggtaaaaa	11	3	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:99978135A>G	uc002tab.2	+	4	955	c.771A>G	c.(769-771)GAA>GAG	p.E257E		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	257					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AAGAAAAAGAAGAGTTAGAAA	0.378													G	99978135	A	G	99978135	2	3	172	1	0	0	0	0	0	0	0	1	5044	69	3	3		3	EIF5B	2	99978135	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	211118	99978135	143221238	231	93343											
NPAS2	4862	broad.mit.edu	37	chr2	101565870	101565870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgccatcttctcagaggcAgcttgaacccaaaggaattt	8	10	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:101565870A>G	uc002tap.1	+	7	812	c.526A>G	c.(526-528)AGC>GGC	p.S176G	NPAS2_uc010yvt.1_Missense_Mutation_p.S241G	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	176					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			ovary(3)|upper_aerodigestive_tract(1)	4						TCTCAGAGGCAGCTTGAACCC	0.388													G	101565870	A	G	101565870	3	3	172	1	0	0	0	0	1	0	0	0	10563	188	7	3	548	3	NPAS2	2	101565870	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1587735	101565870	141633503	232	93344											
MAP4K4	9448	broad.mit.edu	37	chr2	102476242	102476242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcactcgcagcagccgccAccaccgcagcaggaaaggag	12	16	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:102476242A>G	uc002tbg.2	+	15	1675	c.1620A>G	c.(1618-1620)CCA>CCG	p.P540P	MAP4K4_uc002tbc.2_Silent_p.P540P|MAP4K4_uc002tbd.2_Silent_p.P509P|MAP4K4_uc002tbe.2_Silent_p.P509P|MAP4K4_uc002tbf.2_Silent_p.P509P|MAP4K4_uc010yvy.1_Silent_p.P509P|MAP4K4_uc002tbh.2_Silent_p.P509P|MAP4K4_uc002tbi.2_Silent_p.P393P|MAP4K4_uc010yvz.1_Silent_p.P489P|MAP4K4_uc002tbk.2_Silent_p.P49P|MAP4K4_uc002tbj.1_Silent_p.P405P	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	540					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			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AGCAGCCGCCACCACCGCAGC	0.592													G	102476242	A	G	102476242	2	3	172	1	0	0	0	0	0	0	0	1	9262	146	6	3		3	MAP4K4	2	102476242	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	910372	102476242	140723131	233	93345											
UXS1	80146	broad.mit.edu	37	chr2	106717534	106717534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttgaccgggctgctgaCgttgctgttcatgagagcca	14	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:106717534C>T	uc002tdm.2	-	12	1047	c.949G>A	c.(949-951)GTC>ATC	p.V317I	UXS1_uc002tdl.2_Missense_Mutation_p.V149I|UXS1_uc002tdn.2_Missense_Mutation_p.V322I|UXS1_uc002tdo.2_Missense_Mutation_p.V260I|UXS1_uc010ywh.1_Missense_Mutation_p.V161I	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	317	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						GGGCTGCTGACGTTGCTGTTC	0.552													T	106717534	C	T	106717534	3	4	172	1	0	0	0	0	1	0	0	0	17106	536	19	1	329	1	UXS1	2	106717534	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4241292	106717534	136481839	234	93346											
SULT1C4	27233	broad.mit.edu	37	chr2	108994805	108994805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacactaatggccttacaCgacatggaggattttacatt	7	9	0	0	rs144464562		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:108994805C>T	uc002tea.1	+	1	385	c.12C>T	c.(10-12)CAC>CAT	p.H4H	SULT1C4_uc002tdz.2_Silent_p.H4H|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.H4H	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	4					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						TGGCCTTACACGACATGGAGG	0.448													T	108994805	C	T	108994805	2	4	172	1	0	0	0	0	0	0	0	1	15376	535	19	1		1	SULT1C4	2	108994805	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2277271	108994805	134204568	235	93347											
ANAPC1	64682	broad.mit.edu	37	chr2	112601029	112601029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtgttataacccatcAtgttcatgagacaagtcaca	8	9	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:112601029A>G	uc002thi.2	-	17	2247	c.2000T>C	c.(1999-2001)ATG>ACG	p.M667T		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	667					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				skin(2)	2						ATAACCCATCATGTTCATGAG	0.378													G	112601029	A	G	112601029	3	3	172	1	0	0	0	0	1	0	0	0	598	217	8	3	3962	3	ANAPC1	2	112601029	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3606224	112601029	130598344	236	93348											
ANAPC1	64682	broad.mit.edu	37	chr2	112621311	112621311	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagactgggtgatgaggtTgagcgactctggctgtgaat	16	5	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:112621311T>C	uc002thi.2	-	9	1240	c.993A>G	c.(991-993)TCA>TCG	p.S331S		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	331					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				skin(2)	2						GTGATGAGGTTGAGCGACTCT	0.473													C	112621311	T	C	112621311	2	2	172	1	0	0	0	0	0	0	0	1	598	1799	63	3		3	ANAPC1	2	112621311	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	20282	112621311	130578062	237	93349											
IL1F9	56300	broad.mit.edu	37	chr2	113742478	113742478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccttccttttctaccGtgccaagactggtaggacct	8	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:113742478G>A	uc002tio.1	+	5	431	c.362G>A	c.(361-363)CGT>CAT	p.R121H	IL1F9_uc010fkr.1_Missense_Mutation_p.R86H	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	interleukin 1 family, member 9	121					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0						CTTTTCTACCGTGCCAAGACT	0.512													A	113742478	G	A	113742478	3	1	172	1	0	0	0	0	1	0	0	0	7657	1145	40	1	376	1	IL1F9	2	113742478	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1121167	113742478	129456895	238	93350											
SLC35F5	80255	broad.mit.edu	37	chr2	114512832	114512832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcgctgagtgaaaccActgttctgggaattcattcg	11	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:114512832A>G	uc002tku.1	-	3	607	c.183T>C	c.(181-183)AGT>AGC	p.S61S	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.S55S|SLC35F5_uc002tkw.2_Silent_p.S61S	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	61					transport	integral to membrane					0						GAGTGAAACCACTGTTCTGGG	0.393													G	114512832	A	G	114512832	2	3	172	1	0	0	0	0	0	0	0	1	14592	156	6	3		3	SLC35F5	2	114512832	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	770354	114512832	128686541	239	93351											
DPP10	57628	broad.mit.edu	37	chr2	116520172	116520172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagatgacatcagatacgTggctctctcagcaggtacag	11	9	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:116520172T>C	uc002tla.1	+	12	1556	c.1099T>C	c.(1099-1101)TGG>CGG	p.W367R	DPP10_uc002tlb.1_Missense_Mutation_p.W317R|DPP10_uc002tlc.1_Missense_Mutation_p.W363R|DPP10_uc002tle.2_Missense_Mutation_p.W371R|DPP10_uc002tlf.1_Missense_Mutation_p.W360R	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	367	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATCAGATACGTGGCTCTCTCA	0.343													C	116520172	T	C	116520172	3	2	172	1	0	0	0	0	1	0	0	0	4727	1696	59	3	1316	3	DPP10	2	116520172	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2007340	116520172	126679201	240	93352											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192170	125192170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagttcaagagcatgcaAggagatggggtcctgttcca	13	8	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:125192170A>T	uc002tno.2	+	5	1003	c.639A>T	c.(637-639)CAA>CAT	p.Q213H	CNTNAP5_uc010flu.2_Missense_Mutation_p.Q213H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	213	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGAGCATGCAAGGAGATGGGG	0.507													T	125192170	A	T	125192170	3	4	172	1	0	0	0	0	1	0	0	0	3650	69	3	5	657	5	CNTNAP5	2	125192170	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	8671998	125192170	118007203	241	93353											
CYP27C1	339761	broad.mit.edu	37	chr2	127952980	127952980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcagttggaacatgcCtttcccctaaattcttcaca	6	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:127952980C>A	uc002tod.2	-	5	781	c.650G>T	c.(649-651)AGG>ATG	p.R217M		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	217						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGAACATGCCTTTCCCCTAA	0.532													A	127952980	C	A	127952980	3	1	172	1	0	0	0	0	1	0	0	0	4160	681	24	5	484	5	CYP27C1	2	127952980	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2760810	127952980	115246393	242	93354											
PROC	5624	broad.mit.edu	37	chr2	128186037	128186037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaccgacaatgacatcGcactgctgcacctggcccag	9	17	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:128186037G>A	uc002tok.2	+	9	974	c.901G>A	c.(901-903)GCA>ACA	p.A301T	PROC_uc002tol.2_Missense_Mutation_p.A322T|PROC_uc010yzi.1_Missense_Mutation_p.A357T|PROC_uc010yzj.1_Missense_Mutation_p.A196T|PROC_uc010yzk.1_Missense_Mutation_p.A356T|PROC_uc002tom.2_Missense_Mutation_p.A335T	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	301	Peptidase S1.		A -> V (in patients with PROC deficiency).|A -> T (in patients with PROC deficiency).		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				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAATGACATCGCACTGCTGCA	0.637													A	128186037	G	A	128186037	3	1	172	1	0	0	0	0	1	0	0	0	12545	1087	38	1	931	1	PROC	2	128186037	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	233057	128186037	115013336	243	93355											
LIMS2	55679	broad.mit.edu	37	chr2	128400603	128400603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagatgtacttgcccAggcccttggccttctcacgg	12	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:128400603A>G	uc002tpa.2	-	5	570	c.404T>C	c.(403-405)CTG>CCG	p.L135P	LIMS2_uc002tou.2_5'Flank|LIMS2_uc002tov.2_5'UTR|LIMS2_uc002tow.2_5'UTR|LIMS2_uc002tox.2_Missense_Mutation_p.L159P|LIMS2_uc010fmb.2_Missense_Mutation_p.L45P|LIMS2_uc002toy.2_Missense_Mutation_p.L130P|LIMS2_uc010yzm.1_Missense_Mutation_p.L157P|LIMS2_uc002toz.2_Missense_Mutation_p.L130P|LIMS2_uc002tpb.2_Missense_Mutation_p.L130P|GPR17_uc010yzn.1_5'Flank|GPR17_uc002tpc.2_5'Flank|GPR17_uc010yzo.1_5'Flank|GPR17_uc002tpd.2_5'Flank	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	135					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GTACTTGCCCAGGCCCTTGGC	0.657													G	128400603	A	G	128400603	3	3	172	1	0	0	0	0	1	0	0	0	8804	188	7	3	645	3	LIMS2	2	128400603	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	214566	128400603	114798770	244	93356											
SAP130	79595	broad.mit.edu	37	chr2	128712741	128712741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggttgaaagggcaacGgctggttgtgacgggggact	19	5	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:128712741G>A	uc002tpp.2	-	15	2346	c.2214C>T	c.(2212-2214)GCC>GCT	p.A738A	SAP130_uc002tpn.2_Silent_p.A498A|SAP130_uc002tpo.2_Silent_p.A518A|SAP130_uc010fmd.2_Silent_p.A773A|SAP130_uc002tpq.1_Silent_p.A746A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	738	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAGGGCAACGGCTGGTTGTG	0.577													A	128712741	G	A	128712741	2	1	172	1	0	0	0	0	0	0	0	1	13831	1103	39	1		1	SAP130	2	128712741	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	312138	128712741	114486632	245	93357											
CCDC74B	91409	broad.mit.edu	37	chr2	130897150	130897150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaccgagcgatgcaggCgccgtttctgcattgcctgc	12	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:130897150C>T	uc002tqm.1	-	8	1183	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H	CCDC74B_uc010yzw.1_Missense_Mutation_p.R476H|CCDC74B_uc002tqn.1_Missense_Mutation_p.R308H	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	374											0	Colorectal(110;0.1)					GCGATGCAGGCGCCGTTTCTG	0.597													T	130897150	C	T	130897150	3	4	172	1	0	0	0	0	1	0	0	0	2848	768	27	1	25	1	CCDC74B	2	130897150	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2184409	130897150	112302223	246	93358											
TUBA3E	112714	broad.mit.edu	37	chr2	130951615	130951615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtaggtggccagggggAagtggatgcgggggtacggc	24	6	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:130951615A>G	uc002tqv.2	-	4	901	c.800T>C	c.(799-801)TTC>TCC	p.F267S		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	267					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					GGCCAGGGGGAAGTGGATGCG	0.602													G	130951615	A	G	130951615	3	3	172	1	0	0	0	0	1	0	0	0	16745	246	9	3	560	3	TUBA3E	2	130951615	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	54465	130951615	112247758	247	93359											
FAM168B	130074	broad.mit.edu	37	chr2	131812907	131812907	+	Frame_Shift_Del	DEL	G	G	-													tgaccccgttgcctctaggaGgggggatgggagcagggtac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:131812906_131812906AG>A	uc002tsd.3	-	4	643	c.414_414CT>T	c.(412-414)cctfs	p.P138fs		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	138										endometrium(3)|lung(2)	5						TGCCTCTAGGAGGGGGGATGG	0.622													-	131812907	G	-	131812907	7	5	172	1	0	1	0	1	0	0	0	0	5486	1000	35	0	182	0	FAM168B	2	131812907	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	861292	131812907	111386466	248	93360											
NCKAP5	344148	broad.mit.edu	37	chr2	133542601	133542601	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggacttttctcatcactgcTctctatgtgcagctcatcaa	6	12	5	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:133542601T>A	uc002ttp.2	-	14	2157	c.1783A>T	c.(1783-1785)AGC>TGC	p.S595C	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	595							protein binding				0						TCATCACTGCTCTCTATGTGC	0.527													A	133542601	T	A	133542601	3	1	172	1	0	0	0	0	1	0	0	0	10223	1551	54	5	3974	5	NCKAP5	2	133542601	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1729694	133542601	109656772	249	93361											
THSD7B	80731	broad.mit.edu	37	chr2	138208468	138208468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttgattgcaagttaagcGattggtctagttgggggtct	13	5	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:138208468G>A	uc002tva.1	+	14	2920	c.2920G>A	c.(2920-2922)GAT>AAT	p.D974N	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAAGTTAAGCGATTGGTCTAG	0.388													A	138208468	G	A	138208468	3	1	172	1	0	0	0	0	1	0	0	0	15877	1058	37	1	2974	1	THSD7B	2	138208468	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4665867	138208468	104990905	250	93362											
LRP1B	53353	broad.mit.edu	37	chr2	141115624	141115624	+	Frame_Shift_Del	DEL	T	T	-													tggagatccatagggatgcaTtttttattactacaagcaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:141115624delT	uc002tvj.1	-	74	12291	c.11319delA	c.(11317-11319)AAAfs	p.K3773fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3773	Extracellular (Potential).|LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TAGGGATGCATTTTTTATTAC	0.388										TSP Lung(27;0.18)			-	141115624	T	-	141115624	7	5	172	1	0	1	0	1	0	0	0	0	8955	1490	52	0	2552	0	LRP1B	2	141115624	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	2907156	141115624	102083749	251	93363											
LRP1B	53353	broad.mit.edu	37	chr2	141458106	141458106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgccaaatatccatggGcacaagcacaagttctccgg	8	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:141458106G>A	uc002tvj.1	-	41	7484	c.6512C>T	c.(6511-6513)GCC>GTC	p.A2171V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2171	Extracellular (Potential).|EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ATATCCATGGGCACAAGCACA	0.408										TSP Lung(27;0.18)			A	141458106	G	A	141458106	3	1	172	1	0	0	0	0	1	0	0	0	8955	1203	42	2	7491	2	LRP1B	2	141458106	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	342482	141458106	101741267	252	93364											
KYNU	8942	broad.mit.edu	37	chr2	143798151	143798151	+	Frame_Shift_Del	DEL	G	G	-													tccgtctcatgtagaggagcGggggtgccagctaacaataa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:143798151delG	uc002tvl.2	+	13	1326	c.1196delG	c.(1195-1197)CGGfs	p.R399fs	KYNU_uc010fnm.2_Frame_Shift_Del_p.R399fs	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	399					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			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GTAGAGGAGCGGGGGTGCCAG	0.408													-	143798151	G	-	143798151	7	5	172	1	0	1	0	1	0	0	0	0	8587	1116	39	0	1268	0	KYNU	2	143798151	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	2340045	143798151	99401222	253	93365											
ZEB2	9839	broad.mit.edu	37	chr2	145156685	145156685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttcgttgttcaaaccatTccttcacaaattcctgagga	5	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:145156685T>C	uc002tvu.2	-	8	2549	c.2069A>G	c.(2068-2070)GAA>GGA	p.E690G	ZEB2_uc002tvv.2_Missense_Mutation_p.E684G|ZEB2_uc010zbm.1_Missense_Mutation_p.E661G|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.E719G	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	690	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCAAACCATTCCTTCACAAA	0.468													C	145156685	T	C	145156685	3	2	172	1	0	0	0	0	1	0	0	0	17621	1783	62	3	1587	3	ZEB2	2	145156685	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1358534	145156685	98042688	254	93366											
KIF5C	3800	broad.mit.edu	37	chr2	149861973	149861973	+	Frame_Shift_Del	DEL	A	A	-													aggatctgaccacccgagttAaaaaagtgagttctctttgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:149861973delA	uc010zbu.1	+	22	2808	c.2440delA	c.(2440-2442)AAAfs	p.K814fs	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Frame_Shift_Del_p.K96fs	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	814					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CACCCGAGTTAAAAAAGTGAG	0.423													-	149861973	A	-	149861973	7	5	172	1	0	1	0	1	0	0	0	0	8307	363	13	0	2448	0	KIF5C	2	149861973	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	4705288	149861973	93337400	255	93367											
RIF1	55183	broad.mit.edu	37	chr2	152285379	152285379	+	Frame_Shift_Del	DEL	A	A	-													gtagtggagcacccatgattAaaaagatagcttttattgct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:152285378_152285378TA>T	uc002txm.3	+	8	1028	c.867_867TA>T	c.(865-867)attfs	p.I289fs	RIF1_uc010fnv.2_Frame_Shift_Del_p.I253fs|RIF1_uc002txn.3_Frame_Shift_Del_p.I289fs|RIF1_uc002txl.3_Frame_Shift_Del_p.I289fs|RIF1_uc002txo.3_Frame_Shift_Del_p.I289fs|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	289					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.M288I(1)		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)		CACCCATGATTAAAAAGATAG	0.318													-	152285379	A	-	152285379	7	5	172	1	0	1	0	1	0	0	0	0	13359	363	13	0	898	0	RIF1	2	152285379	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	2423406	152285379	90913994	256	93368											
GPD2	2820	broad.mit.edu	37	chr2	157425876	157425876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatcaatttctttataggTggaaagtggacaacttatcg	8	6	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:157425876T>C	uc002tzf.3	+	11	1662	c.1302T>C	c.(1300-1302)GGT>GGC	p.G434G	GPD2_uc010zch.1_Silent_p.G207G|GPD2_uc002tzd.3_Silent_p.G434G|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	434					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						TCTTTATAGGTGGAAAGTGGA	0.343													C	157425876	T	C	157425876	2	2	172	1	0	0	0	0	0	0	0	1	6606	1710	59	3		3	GPD2	2	157425876	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5140497	157425876	85773497	257	93369											
ACVR1	90	broad.mit.edu	37	chr2	158634684	158634684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggtggtgatgagcccttCgatagtgccatactccacgt	11	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:158634684C>T	uc002tzm.3	-	6	841	c.502G>A	c.(502-504)GAA>AAA	p.E168K	ACVR1_uc002tzn.3_Missense_Mutation_p.E168K|ACVR1_uc010fog.2_Missense_Mutation_p.E168K	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	168	Cytoplasmic (Potential).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ATGAGCCCTTCGATAGTGCCA	0.498													T	158634684	C	T	158634684	3	4	172	1	0	0	0	0	1	0	0	0	220	893	31	1	1055	1	ACVR1	2	158634684	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1208808	158634684	84564689	258	93370											
TANC1	85461	broad.mit.edu	37	chr2	160019872	160019872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagatggaaacctaagatTaggggttcagaagggagtgc	14	4	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:160019872T>C	uc002uag.2	+	8	1035	c.761T>C	c.(760-762)TTA>TCA	p.L254S	TANC1_uc010fol.1_Missense_Mutation_p.L148S|TANC1_uc010zcm.1_Missense_Mutation_p.L253S|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	254						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AACCTAAGATTAGGGGTTCAG	0.493													C	160019872	T	C	160019872	3	2	172	1	0	0	0	0	1	0	0	0	15541	1764	61	3	783	3	TANC1	2	160019872	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1385188	160019872	83179501	259	93371											
TANC1	85461	broad.mit.edu	37	chr2	160031474	160031474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccccctaggtggtggcctAccactactgccaggctgaca	10	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:160031474A>G	uc002uag.2	+	12	1788	c.1514A>G	c.(1513-1515)TAC>TGC	p.Y505C	TANC1_uc010fol.1_Missense_Mutation_p.Y399C|TANC1_uc010zcm.1_Missense_Mutation_p.Y497C|TANC1_uc010fom.1_Missense_Mutation_p.Y311C|TANC1_uc002uai.1_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	505						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GTGGTGGCCTACCACTACTGC	0.577													G	160031474	A	G	160031474	3	3	172	1	0	0	0	0	1	0	0	0	15541	391	14	3	1552	3	TANC1	2	160031474	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	11602	160031474	83167899	260	93372											
XIRP2	129446	broad.mit.edu	37	chr2	168104267	168104267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctgctggtaaaaccgttgGaaagcaacagacatatgaac	9	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:168104267G>A	uc002udx.2	+	8	6383	c.6365G>A	c.(6364-6366)GGA>GAA	p.G2122E	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1947E|XIRP2_uc010fpq.2_Missense_Mutation_p.G1900E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1947					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAAACCGTTGGAAAGCAACAG	0.348													A	168104267	G	A	168104267	3	1	172	1	0	0	0	0	1	0	0	0	17427	1174	41	4	6395	4	XIRP2	2	168104267	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	8072793	168104267	75095106	261	93373											
XIRP2	129446	broad.mit.edu	37	chr2	168107832	168107832	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcctgtcagagcacacacaGagatatgaagcggccaaccg	11	13	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:168107832G>T	uc002udx.2	+	8	9948	c.9930G>T	c.(9928-9930)CAG>CAT	p.Q3310H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q3135H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q3088H|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3135					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGCACACACAGAGATATGAAG	0.458													T	168107832	G	T	168107832	3	4	172	1	0	0	0	0	1	0	0	0	17427	933	33	5	9960	5	XIRP2	2	168107832	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3565	168107832	75091541	262	93374											
ABCB11	8647	broad.mit.edu	37	chr2	169828384	169828384	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtccatgatgaagttgtaGgcattggcctccttggcagc	13	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:169828384G>T	uc002ueo.1	-	14	1737	c.1611C>A	c.(1609-1611)GCC>GCA	p.A537A	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_Silent_p.A13A	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	537	Cytoplasmic (Potential).|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			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGAAGTTGTAGGCATTGGCCT	0.448													T	169828384	G	T	169828384	2	4	172	1	0	0	0	0	0	0	0	1	42	987	35	5		5	ABCB11	2	169828384	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1720552	169828384	73370989	263	93375											
LRP2	4036	broad.mit.edu	37	chr2	170134319	170134319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtcaacccagtaaacacGcttcgatatcatatccagag	7	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:170134319G>A	uc002ues.2	-	13	1921	c.1708C>T	c.(1708-1710)CGT>TGT	p.R570C	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	570	LDL-receptor class B 4.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	CAGTAAACACGCTTCGATATC	0.408													A	170134319	G	A	170134319	3	1	172	1	0	0	0	0	1	0	0	0	8956	1087	38	1	12527	1	LRP2	2	170134319	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	305935	170134319	73065054	264	93376											
PPIG	9360	broad.mit.edu	37	chr2	170488344	170488344	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tactgtccgtccagaagagaTccctcctatacctgaaaata	6	12	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:170488344T>A	uc002uez.2	+	11	1050	c.830T>A	c.(829-831)ATC>AAC	p.I277N	PPIG_uc010fpx.2_Missense_Mutation_p.I262N|PPIG_uc010fpy.2_Missense_Mutation_p.I270N|PPIG_uc002ufa.2_Missense_Mutation_p.I277N|PPIG_uc002ufb.2_Missense_Mutation_p.I277N|PPIG_uc002ufd.2_Missense_Mutation_p.I274N	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	277					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	CCAGAAGAGATCCCTCCTATA	0.328													A	170488344	T	A	170488344	3	1	172	1	0	0	0	0	1	0	0	0	12324	1435	50	5	864	5	PPIG	2	170488344	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	354025	170488344	72711029	265	93377											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170558005	170558005	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtgaattatacacaaattgTttatattggtgatggtggaa	10	2	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:170558005T>A	uc002ufg.2	+	4	912	c.524T>A	c.(523-525)GTT>GAT	p.V175D	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	175							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						ACACAAATTGTTTATATTGGT	0.348													A	170558005	T	A	170558005	3	1	172	1	0	0	0	0	1	0	0	0	11857	1725	60	5	526	5	PHOSPHO2	2	170558005	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	69661	170558005	72641368	266	93378											
ITGA6	3655	broad.mit.edu	37	chr2	173338908	173338910	+	In_Frame_Del	DEL	CTC	CTC	-													gagacatgaagtctgcacatCtcctccctgagcacatattc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:173338908_173338910delCTC	uc002uhp.1	+	6	1104_1106	c.901_903delCTC	c.(901-903)CTCdel	p.L302del	ITGA6_uc010fqk.1_In_Frame_Del_p.L188del|ITGA6_uc010zdy.1_In_Frame_Del_p.L183del|ITGA6_uc002uho.1_In_Frame_Del_p.L302del|ITGA6_uc010fqm.1_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	341	FG-GAP 5.|Extracellular (Potential).				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			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GTCTGCACATCTCCTCCCTGAGC	0.488													-	173338910	CTC	-	173338908	7	5	172	1	0	1	0	1	0	0	0	0	7880	913	32	0	923	0	ITGA6	2	173338908	In_Frame_Del	DEL	CTC	TCGA-CG-4442-01A-01D-1158-08	2780903	173338908	69860465	267	93379											
HOXD12	3238	broad.mit.edu	37	chr2	176964613	176964613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctttctacttctccaaCctgaggccgaatggcggcca	9	14	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:176964613C>T	uc010zev.1	+	1	84	c.84C>T	c.(82-84)AAC>AAT	p.N28N	HOXD12_uc010zew.1_Silent_p.N28N	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	28						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACTTCTCCAACCTGAGGCCGA	0.662													T	176964613	C	T	176964613	2	4	172	1	0	0	0	0	0	0	0	1	7321	506	18	4		4	HOXD12	2	176964613	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3625705	176964613	66234760	268	93380											
HOXD10	3236	broad.mit.edu	37	chr2	176981694	176981694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctagcgcagacatggggAcctatggaatgcaaacctgt	11	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:176981694A>G	uc002ukj.2	+	1	203	c.133A>G	c.(133-135)ACC>GCC	p.T45A		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	45						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGACATGGGGACCTATGGAAT	0.468													G	176981694	A	G	176981694	3	3	172	1	0	0	0	0	1	0	0	0	7319	275	10	3	135	3	HOXD10	2	176981694	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	17081	176981694	66217679	269	93381											
TTN	7273	broad.mit.edu	37	chr2	179399998	179399998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcttatcttctttggTtatggttggttctgaaggct	11	6	5	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179399998T>C	uc010zfg.1	-	307	93864	c.93640A>G	c.(93640-93642)ACC>GCC	p.T31214A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T24909A|TTN_uc010zfi.1_Missense_Mutation_p.T24842A|TTN_uc010zfj.1_Missense_Mutation_p.T24717A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32141							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTTTGGTTATGGTTGGT	0.408													C	179399998	T	C	179399998	3	2	172	1	0	0	0	0	1	0	0	0	16732	1725	60	3	6655	3	TTN	2	179399998	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2418304	179399998	63799375	270	93382											
TTN	7273	broad.mit.edu	37	chr2	179407619	179407619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagctctactggtctgCcagctgggacatggatggtc	12	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179407619C>T	uc010zfg.1	-	297	89482	c.89258G>A	c.(89257-89259)GGC>GAC	p.G29753D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G23448D|TTN_uc010zfi.1_Missense_Mutation_p.G23381D|TTN_uc010zfj.1_Missense_Mutation_p.G23256D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30680							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTGGTCTGCCAGCTGGGAC	0.458													T	179407619	C	T	179407619	3	4	172	1	0	0	0	0	1	0	0	0	16732	739	26	2	11077	2	TTN	2	179407619	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	7621	179407619	63791754	271	93383											
TTN	7273	broad.mit.edu	37	chr2	179451992	179451992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttaacttctggggtaaCggtcgaccatgtctttctgt	9	9	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179451992C>T	uc010zfg.1	-	256	56466	c.56242G>A	c.(56242-56244)GTT>ATT	p.V18748I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12443I|TTN_uc010zfi.1_Missense_Mutation_p.V12376I|TTN_uc010zfj.1_Missense_Mutation_p.V12251I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19675							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGGTAACGGTCGACCAT	0.488													T	179451992	C	T	179451992	3	4	172	1	0	0	0	0	1	0	0	0	16732	536	19	1	44257	1	TTN	2	179451992	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	44373	179451992	63747381	272	93384											
TTN	7273	broad.mit.edu	37	chr2	179471746	179471746	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaaaccttctcttttAcctagtggatcaactgcaag	6	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179471746A>G	uc010zfg.1	-	227	46101	c.45877_splice	c.e227+1	p.G15293_splice	uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.G8988_splice|TTN_uc010zfi.1_Splice_Site_p.G8921_splice|TTN_uc010zfj.1_Splice_Site_p.G8796_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTCTTTTACCTAGTGGAT	0.373													G	179471746	A	G	179471746	5	3	172	1	0	0	0	0	0	0	1	0	16732	405	14	3	54450	3	TTN	2	179471746	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	19754	179471746	63727627	273	93385											
TTN	7273	broad.mit.edu	37	chr2	179485917	179485917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggcatctttcacaacTaggaccctctttttaccatc	5	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179485917T>C	uc010zfg.1	-	195	38048	c.37824A>G	c.(37822-37824)CTA>CTG	p.L12608L	TTN_uc010zfh.1_Silent_p.L6303L|TTN_uc010zfi.1_Silent_p.L6236L|TTN_uc010zfj.1_Silent_p.L6111L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13535							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCACAACTAGGACCCTCT	0.433													C	179485917	T	C	179485917	2	2	172	1	0	0	0	0	0	0	0	1	16732	1509	53	3		3	TTN	2	179485917	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	14171	179485917	63713456	274	93386											
TTN	7273	broad.mit.edu	37	chr2	179486301	179486301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaccaggattctctTccgtccttcagtcagtattt	7	11	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179486301T>C	uc010zfg.1	-	194	37770	c.37546A>G	c.(37546-37548)AAG>GAG	p.K12516E	TTN_uc010zfh.1_Missense_Mutation_p.K6211E|TTN_uc010zfi.1_Missense_Mutation_p.K6144E|TTN_uc010zfj.1_Missense_Mutation_p.K6019E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13443							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATTCTCTTCCGTCCTTCA	0.468													C	179486301	T	C	179486301	3	2	172	1	0	0	0	0	1	0	0	0	16732	1792	62	3	62915	3	TTN	2	179486301	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	384	179486301	63713072	275	93387											
TTN	7273	broad.mit.edu	37	chr2	179599675	179599675	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgattcacctgggagcatTaaataagagggatccacctt	10	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179599675T>C	uc010zfg.1	-	48	11468	c.11244A>G	c.(11242-11244)TTA>TTG	p.L3748L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L409L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4675							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGAGCATTAAATAAGAGG	0.403													C	179599675	T	C	179599675	2	2	172	1	0	0	0	0	0	0	0	1	16732	1751	61	3		3	TTN	2	179599675	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	113374	179599675	63599698	276	93388											
TTN	7273	broad.mit.edu	37	chr2	179614709	179614709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttttggtgattgagTaacttgatcttgaggcattg	12	4	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:179614709T>C	uc002unb.2	-	46	12642	c.12418A>G	c.(12418-12420)ACT>GCT	p.T4140A	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGATTGAGTAACTTGATCT	0.393													C	179614709	T	C	179614709	3	2	172	1	0	0	0	0	1	0	0	0	16732	1638	57	3	97879	3	TTN	2	179614709	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	15034	179614709	63584664	277	93389											
UBE2E3	10477	broad.mit.edu	37	chr2	181846888	181846890	+	In_Frame_Del	DEL	CTT	CTT	-													agaacaagaggaaagaaaacCttctgccacccagcagaaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:181846888_181846890delCTT	uc002unq.1	+	3	338_340	c.119_121delCTT	c.(118-123)CCTTCT>CCT	p.S41del	UBE2E3_uc002unr.1_In_Frame_Del_p.S41del|UBE2E3_uc010fri.1_In_Frame_Del_p.S41del	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	41					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			ovary(1)	1						GAAAGAAAACCTTCTGCCACCCA	0.502													-	181846890	CTT	-	181846888	7	5	172	1	0	1	0	1	0	0	0	0	16851	681	24	0	121	0	UBE2E3	2	181846888	In_Frame_Del	DEL	CTT	TCGA-CG-4442-01A-01D-1158-08	2232179	181846888	61352485	278	93390											
CERKL	375298	broad.mit.edu	37	chr2	182468750	182468751	+	Frame_Shift_Del	DEL	AT	AT	-													ccgtttcagtttcacagagaAtatgtctttgagttcaataa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:182468750_182468751delAT	uc002unx.2	-	2	395_396	c.294_295delAT	c.(292-297)ATATTCfs	p.I98fs	CERKL_uc002uny.2_Frame_Shift_Del_p.I98fs|CERKL_uc010zfm.1_Frame_Shift_Del_p.I98fs|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Frame_Shift_Del_p.I98fs|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Frame_Shift_Del_p.I98fs|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Frame_Shift_Del_p.I98fs	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	98_99					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCACAGAGAATATGTCTTTGA	0.302													-	182468751	AT	-	182468750	7	5	172	1	0	1	0	1	0	0	0	0	3268	101	4	0	1433	0	CERKL	2	182468750	Frame_Shift_Del	DEL	AT	TCGA-CG-4442-01A-01D-1158-08	621862	182468750	60730623	279	93391											
NEUROD1	4760	broad.mit.edu	37	chr2	182543033	182543033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgagttgcaggcagccCgcaaccaggttggtggtggg	18	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:182543033C>T	uc002uof.2	-	2	791	c.555G>A	c.(553-555)GCG>GCA	p.A185A	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	185				A -> G (in Ref. 2; BAA11558 and 5; BAA87605).	amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGGCAGCCCGCAACCAGGT	0.607													T	182543033	C	T	182543033	2	4	172	1	0	0	0	0	0	0	0	1	10348	639	23	1		1	NEUROD1	2	182543033	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	74283	182543033	60656340	280	93392											
NCKAP1	10787	broad.mit.edu	37	chr2	183860523	183860523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcagctgaaagattccttCgaggatataccatttgaaga	10	7	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:183860523C>T	uc002upc.2	-	7	1049	c.647G>A	c.(646-648)CGA>CAA	p.R216Q	NCKAP1_uc002upb.2_Missense_Mutation_p.R222Q	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	216					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGATTCCTTCGAGGATATAC	0.378													T	183860523	C	T	183860523	3	4	172	1	0	0	0	0	1	0	0	0	10221	884	31	1	2839	1	NCKAP1	2	183860523	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1317490	183860523	59338850	281	93393											
TFPI	7035	broad.mit.edu	37	chr2	188332652	188332652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagacaccatgagggaccGtgaaattctaaaaacaatca	9	8	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:188332652G>T	uc002upx.2	-	7	669	c.636C>A	c.(634-636)CAC>CAA	p.H212Q	TFPI_uc002upy.2_Missense_Mutation_p.H212Q|TFPI_uc002upz.2_Missense_Mutation_p.H208Q	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	212					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATGAGGGACCGTGAAATTCTA	0.388													T	188332652	G	T	188332652	3	4	172	1	0	0	0	0	1	0	0	0	15805	1136	40	5	286	5	TFPI	2	188332652	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4472129	188332652	54866721	282	93394											
STAT1	6772	broad.mit.edu	37	chr2	191847230	191847232	+	In_Frame_Del	DEL	GAA	GAA	-													cgtgcacatggtggagtcagGaagaaggacagattctagag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:191847229_191847231GGAA>G	uc010fse.2	-	16	1892_1894	c.1460_1462TTCC>C	c.(1459-1464)ttcctg>tCtg	p.487_488FL>S	STAT1_uc021vue.1_In_Frame_Del_p.299_300FL>S|STAT1_uc002usj.2_In_Frame_Del_p.487_488FL>S|STAT1_uc002usk.2_In_Frame_Del_p.487_488FL>S|STAT1_uc002usl.2_In_Frame_Del_p.489_490FL>S|STAT1_uc010fsf.1_In_Frame_Del_p.299_300FL>S	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	487					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|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	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|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)	GGTGGAGTCAGGAAGAAGGACAG	0.453													-	191847232	GAA	-	191847230	7	5	172	1	0	1	0	1	0	0	0	0	15263	1165	41	0	827	0	STAT1	2	191847230	In_Frame_Del	DEL	GAA	TCGA-CG-4442-01A-01D-1158-08	3514578	191847230	51352143	283	93395											
DNAH7	56171	broad.mit.edu	37	chr2	196746682	196746682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattggaggagcttctttcAatttctttatccatggttcc	8	8	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:196746682A>G	uc002utj.3	-	36	5899	c.5798T>C	c.(5797-5799)TTG>TCG	p.L1933S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1933					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGCTTCTTTCAATTTCTTTAT	0.338													G	196746682	A	G	196746682	3	3	172	1	0	0	0	0	1	0	0	0	4606	131	5	3	6396	3	DNAH7	2	196746682	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4899452	196746682	46452691	284	93396											
C2orf66	401027	broad.mit.edu	37	chr2	197672182	197672182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttcagcctttgagataAttgtgaaaggagtttttctg	9	5	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:197672182A>G	uc002utv.2	-	2	1228	c.339T>C	c.(337-339)AAT>AAC	p.N113N		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	113						extracellular region					0						CTTTGAGATAATTGTGAAAGG	0.398													G	197672182	A	G	197672182	2	3	172	1	0	0	0	0	0	0	0	1	2185	98	4	3		3	C2orf66	2	197672182	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	925500	197672182	45527191	285	93397											
CTLA4	1493	broad.mit.edu	37	chr2	204735621	204735621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacccaccgccatactaccTgggcataggcaacggaaccc	9	16	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:204735621T>C	uc002vak.1	+	2	579	c.422T>C	c.(421-423)CTG>CCG	p.L141P	CTLA4_uc002val.1_Missense_Mutation_p.L141P|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	141	Extracellular (Potential).				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					0					Abatacept(DB01281)	CCATACTACCTGGGCATAGGC	0.483													C	204735621	T	C	204735621	3	2	172	1	0	0	0	0	1	0	0	0	4011	1580	55	3	428	3	CTLA4	2	204735621	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	7063439	204735621	38463752	286	93398											
PARD3B	117583	broad.mit.edu	37	chr2	206050586	206050586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgaagattacagccacAggtattgataaaatgatgta	9	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:206050586A>G	uc002var.1	+	14	2230	c.2023A>G	c.(2023-2025)AGC>GGC	p.S675G	PARD3B_uc010fub.1_Missense_Mutation_p.S675G|PARD3B_uc002vao.1_Missense_Mutation_p.S675G|PARD3B_uc002vap.1_Missense_Mutation_p.S613G|PARD3B_uc002vaq.1_Missense_Mutation_p.S675G	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	675					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTACAGCCACAGGTATTGATA	0.423													G	206050586	A	G	206050586	3	3	172	1	0	0	0	0	1	0	0	0	11444	202	7	3	2077	3	PARD3B	2	206050586	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1314965	206050586	37148787	287	93399											
INO80D	54891	broad.mit.edu	37	chr2	206874370	206874370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccttgggggactgcaGgtggaatgggtttttggggt	19	5	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:206874370G>A	uc002vaz.3	-	9	2096	c.1691C>T	c.(1690-1692)CCT>CTT	p.P564L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	564					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGGGACTGCAGGTGGAATGGG	0.547													A	206874370	G	A	206874370	3	1	172	1	0	0	0	0	1	0	0	0	7749	1000	35	4	1404	4	INO80D	2	206874370	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	823784	206874370	36325003	288	93400											
ZDBF2	57683	broad.mit.edu	37	chr2	207174184	207174184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgagtcacaaggacctgaTgagaaaatggtgaaatatat	10	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207174184T>C	uc002vbp.2	+	5	5182	c.4932T>C	c.(4930-4932)GAT>GAC	p.D1644D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1644							nucleic acid binding|zinc ion binding			ovary(3)	3						AAGGACCTGATGAGAAAATGG	0.368													C	207174184	T	C	207174184	2	2	172	1	0	0	0	0	0	0	0	1	17596	1461	51	3		3	ZDBF2	2	207174184	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	299814	207174184	36025189	289	93401											
ADAM23	8745	broad.mit.edu	37	chr2	207308784	207308784	+	Frame_Shift_Del	DEL	G	G	-													ctcgtcccggccccgcgcctGgggggctgctgcgcccagcg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207308784delG	uc002vbq.2	+	1	417	c.194delG	c.(193-195)TGGfs	p.W65fs	ADAM23_uc010ziv.1_5'Flank	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	65					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCCGCGCCTGGGGGGCTGCT	0.761													-	207308784	G	-	207308784	7	5	172	1	0	1	0	1	0	0	0	0	245	1357	47	0	196	0	ADAM23	2	207308784	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	134600	207308784	35890589	290	93402											
ADAM23	8745	broad.mit.edu	37	chr2	207310055	207310055	+	Frame_Shift_Del	DEL	A	A	-													gcattggaatgaaactgcagAaaaaaatttgggagtcctgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207310055delA	uc002vbq.2	+	2	462	c.239delA	c.(238-240)GAAfs	p.E80fs	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	80					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAAACTGCAGAAAAAAATTTG	0.418													-	207310055	A	-	207310055	7	5	172	1	0	1	0	1	0	0	0	0	245	246	9	0	245	0	ADAM23	2	207310055	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1271	207310055	35889318	291	93403											
ADAM23	8745	broad.mit.edu	37	chr2	207437886	207437886	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgtgaacgagtgtgaTattactgaatattgtactgg	12	4	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:207437886T>C	uc002vbq.2	+	18	1927	c.1704T>C	c.(1702-1704)GAT>GAC	p.D568D	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	568	Disintegrin.|May bind the integrin receptor.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACGAGTGTGATATTACTGAAT	0.323													C	207437886	T	C	207437886	2	2	172	1	0	0	0	0	0	0	0	1	245	1403	49	3		3	ADAM23	2	207437886	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	127831	207437886	35761487	292	93404											
FAM119A	151194	broad.mit.edu	37	chr2	208477876	208477878	+	In_Frame_Del	DEL	AAG	AAG	-													attgcctctccagcattgctAagaagttgttatcccgttca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:208477876_208477878delAAG	uc002vcf.2	-	4	709_711	c.549_551delCTT	c.(547-552)TTCTTA>TTA	p.F183del	FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_In_Frame_Del_p.F183del|FAM119A_uc002vcg.3_In_Frame_Del_p.F183del	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	183						integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		CAGCATTGCTAAGAAGTTGTTAT	0.409													-	208477878	AAG	-	208477876	7	5	172	1	0	1	0	1	0	0	0	0	5413	372	13	0	109	0	FAM119A	2	208477876	In_Frame_Del	DEL	AAG	TCGA-CG-4442-01A-01D-1158-08	1039990	208477876	34721497	293	93405											
IKZF2	22807	broad.mit.edu	37	chr2	213872794	213872794	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatctgggtagctgaatcGcatgagcttttcccctggaa	10	9	1	2	rs146574423		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:213872794G>A	uc002vem.2	-	8	1040	c.871C>T	c.(871-873)CGA>TGA	p.R291*	IKZF2_uc010fuu.2_Nonsense_Mutation_p.R146*|IKZF2_uc002vej.2_Nonsense_Mutation_p.R238*|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Nonsense_Mutation_p.R217*|IKZF2_uc002vel.2_Nonsense_Mutation_p.R212*|IKZF2_uc010fuw.2_Nonsense_Mutation_p.R65*|IKZF2_uc010fux.2_Nonsense_Mutation_p.R65*|IKZF2_uc010fuy.2_Nonsense_Mutation_p.R219*|IKZF2_uc002ven.2_Nonsense_Mutation_p.R265*|IKZF2_uc002vei.2_Nonsense_Mutation_p.R69*	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TAGCTGAATCGCATGAGCTTT	0.383													A	213872794	G	A	213872794	4	1	172	1	0	0	0	0	0	1	0	0	7615	1095	38	1	713	1	IKZF2	2	213872794	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5394918	213872794	29326579	294	93406											
TNS1	7145	broad.mit.edu	37	chr2	218673324	218673324	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtgtacaagagacttActttctttcctgtggatcca	8	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:218673324A>T	uc002vgt.2	-	31	5428	c.5030_splice	c.e31+1	p.K1677_splice	TNS1_uc002vgr.2_Splice_Site_p.K1663_splice|TNS1_uc002vgs.2_Splice_Site_p.K1656_splice|TNS1_uc002vgq.2_Splice_Site_p.K177_splice	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin							cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		CAAGAGACTTACTTTCTTTCC	0.363													T	218673324	A	T	218673324	5	4	172	1	0	0	0	0	0	0	1	0	16340	405	14	5	187	5	TNS1	2	218673324	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4800530	218673324	24526049	295	93407											
TNS1	7145	broad.mit.edu	37	chr2	218682650	218682650	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacggggaggtggcagggcTgctcaggccagggtagtagg	21	7	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:218682650T>G	uc002vgt.2	-	24	4491	c.4093A>C	c.(4093-4095)AGC>CGC	p.S1365R	TNS1_uc002vgr.2_Missense_Mutation_p.S1352R|TNS1_uc002vgs.2_Missense_Mutation_p.S1344R|TNS1_uc010zjv.1_Missense_Mutation_p.S1344R	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1365						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		GTGGCAGGGCTGCTCAGGCCA	0.662													G	218682650	T	G	218682650	3	3	172	1	0	0	0	0	1	0	0	0	16340	1580	55	5	1154	5	TNS1	2	218682650	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	9326	218682650	24516723	296	93408											
TNS1	7145	broad.mit.edu	37	chr2	218682831	218682831	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacagatccagaccctccGaggtgacggcccaggctggg	13	15	0	3	rs149340421	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:218682831G>A	uc002vgt.2	-	24	4310	c.3912C>T	c.(3910-3912)CTC>CTT	p.L1304L	TNS1_uc002vgr.2_Silent_p.L1291L|TNS1_uc002vgs.2_Silent_p.L1283L|TNS1_uc010zjv.1_Silent_p.L1283L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1304						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		CAGACCCTCCGAGGTGACGGC	0.657													A	218682831	G	A	218682831	2	1	172	1	0	0	0	0	0	0	0	1	16340	1045	37	1		1	TNS1	2	218682831	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	181	218682831	24516542	297	93409											
RNF25	64320	broad.mit.edu	37	chr2	219528977	219528977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgggtacctttaggggcGtggcactcccctccctttgg	12	14	1	0	rs148126928		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219528977G>A	uc002vit.2	-	10	1171	c.1083C>T	c.(1081-1083)CAC>CAT	p.H361H	RNF25_uc010fvw.2_Silent_p.H249H	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	361					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTAGGGGCGTGGCACTCCC	0.627													A	219528977	G	A	219528977	2	1	172	1	0	0	0	0	0	0	0	1	13485	1136	40	1		1	RNF25	2	219528977	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	846146	219528977	23670396	298	93410											
STK36	27148	broad.mit.edu	37	chr2	219559251	219559251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacctctcccacagagtGcagcagcctgtctattggga	9	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219559251G>A	uc002viu.2	+	21	2670	c.2404G>A	c.(2404-2406)GCA>ACA	p.A802T	STK36_uc002viv.2_Missense_Mutation_p.A802T|STK36_uc002viw.2_5'UTR|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	802					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			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		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)		CCCACAGAGTGCAGCAGCCTG	0.512													A	219559251	G	A	219559251	3	1	172	1	0	0	0	0	1	0	0	0	15301	1319	46	2	2482	2	STK36	2	219559251	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	30274	219559251	23640122	299	93411											
STK36	27148	broad.mit.edu	37	chr2	219561249	219561249	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgtttctctctgacaGgttcggttgactccaccagg	9	12	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219561249G>T	uc002viu.2	+	22	2778	c.2512_splice	c.e22-1	p.V838_splice	STK36_uc002viv.2_Intron|STK36_uc002viw.2_Splice_Site_p.V17_splice|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36						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			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		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)		CTCTCTGACAGGTTCGGTTGA	0.498													T	219561249	G	T	219561249	5	4	172	1	0	0	0	0	0	0	1	0	15301	1014	35	5	2593	5	STK36	2	219561249	Splice_Site	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1998	219561249	23638124	300	93412											
CRYBA2	1412	broad.mit.edu	37	chr2	219856929	219856929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctccagaatgaactgCtgtccctggaagtcggggta	11	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219856929C>T	uc002vjj.1	-	3	233	c.198G>A	c.(196-198)CAG>CAA	p.Q66Q	CRYBA2_uc002vjk.1_Silent_p.Q66Q	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	66	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATGAACTGCTGTCCCTGGA	0.612													T	219856929	C	T	219856929	2	4	172	1	0	0	0	0	0	0	0	1	3908	796	28	2		2	CRYBA2	2	219856929	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	295680	219856929	23342444	301	93413											
CCDC108	255101	broad.mit.edu	37	chr2	219892637	219892637	+	Frame_Shift_Del	DEL	G	G	-													caggctctacactgatgggcGgggggaagatggttatgtcg					rs144433350		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:219892637delG	uc002vjl.1	-	13	2030	c.1946delC	c.(1945-1947)CCGfs	p.P649fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.P92fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.P638fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.P584fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	649						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		ACTGATGGGCGGGGGGAAGAT	0.617													-	219892637	G	-	219892637	7	5	172	1	0	1	0	1	0	0	0	0	2743	1116	39	0	3923	0	CCDC108	2	219892637	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	35708	219892637	23306736	302	93414											
MOGAT1	116255	broad.mit.edu	37	chr2	223553067	223553067	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttcttttcttacagggccGatgtccattggaatcactgt	8	9	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:223553067G>A	uc010fws.1	+	2	147	c.99G>A	c.(97-99)CCG>CCA	p.P33P	MOGAT1_uc010fwt.1_5'UTR	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	33	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		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)		TTACAGGGCCGATGTCCATTG	0.423													A	223553067	G	A	223553067	2	1	172	1	0	0	0	0	0	0	0	1	9694	1045	37	1		1	MOGAT1	2	223553067	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3660430	223553067	19646306	303	93415											
SERPINE2	5270	broad.mit.edu	37	chr2	224842297	224842297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaaacagaaaaggtcTgtctactataaaccagggag	10	6	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:224842297T>C	uc002vnu.2	-	8	1366	c.1123A>G	c.(1123-1125)AGA>GGA	p.R375G	SERPINE2_uc002vnt.2_Missense_Mutation_p.R374G|SERPINE2_uc010zlr.1_Missense_Mutation_p.R386G|SERPINE2_uc002vnv.2_Missense_Mutation_p.R374G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	375					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)|ovary(1)|central_nervous_system(1)	4		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)		AGAAAAGGTCTGTCTACTATA	0.413													C	224842297	T	C	224842297	3	2	172	1	0	0	0	0	1	0	0	0	14112	1588	55	3	81	3	SERPINE2	2	224842297	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1289230	224842297	18357076	304	93416											
CUL3	8452	broad.mit.edu	37	chr2	225360635	225360635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatatgtgcttccgtgtatTagagccagttacttgtgcac	9	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:225360635T>C	uc002vny.2	-	13	2140	c.1756A>G	c.(1756-1758)AAT>GAT	p.N586D	CUL3_uc010zls.1_Missense_Mutation_p.N520D|CUL3_uc010fwy.1_Missense_Mutation_p.N592D|CUL3_uc002vnz.1_Missense_Mutation_p.N33D	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	586					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			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		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)		TTCCGTGTATTAGAGCCAGTT	0.348													C	225360635	T	C	225360635	3	2	172	1	0	0	0	0	1	0	0	0	4056	1754	61	3	566	3	CUL3	2	225360635	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	518338	225360635	17838738	305	93417											
TRIP12	9320	broad.mit.edu	37	chr2	230723776	230723776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctacagcagaagacgAggaggaagtagaggcagcag	17	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:230723776A>G	uc002vpw.1	-	3	722	c.613T>C	c.(613-615)TCG>CCG	p.S205P	TRIP12_uc002vpx.1_Missense_Mutation_p.S247P|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.S205P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	205					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		GCAGAAGACGAGGAGGAAGTA	0.537													G	230723776	A	G	230723776	3	3	172	1	0	0	0	0	1	0	0	0	16553	304	11	3	5521	3	TRIP12	2	230723776	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	5363141	230723776	12475597	306	93418											
SP140	11262	broad.mit.edu	37	chr2	231106186	231106186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagatagacccagattactAccatatggtaaacaaggtaa	8	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:231106186A>G	uc002vql.2	+	4	589	c.474A>G	c.(472-474)CTA>CTG	p.L158L	SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.L158L|SP140_uc002vqn.2_Silent_p.L158L|SP140_uc002vqm.2_Silent_p.L158L|SP140_uc010fxl.2_Silent_p.L158L	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	158					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		CCAGATTACTACCATATGGTA	0.358													G	231106186	A	G	231106186	2	3	172	1	0	0	0	0	0	0	0	1	14962	378	14	3		3	SP140	2	231106186	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	382410	231106186	12093187	307	93419											
C2orf57	165100	broad.mit.edu	37	chr2	232458157	232458157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagcacatggaggctcaGcccgtcgagagtgatgctga	13	12	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:232458157G>A	uc002vrz.2	+	1	546	c.495G>A	c.(493-495)CAG>CAA	p.Q165Q		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	165										ovary(1)	1		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)		TGGAGGCTCAGCCCGTCGAGA	0.602													A	232458157	G	A	232458157	2	1	172	1	0	0	0	0	0	0	0	1	2178	962	34	2		2	C2orf57	2	232458157	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1351971	232458157	10741216	308	93420											
CHRND	1144	broad.mit.edu	37	chr2	233392150	233392150	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactaccaatgtgtggataGagcacgtaagaatgcccctc	9	11	1	2	rs121909504		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:233392150G>T	uc002vsw.2	+	3	242	c.238G>T	c.(238-240)GAG>TAG	p.E80*	CHRND_uc010zmg.1_Intron|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	80	Extracellular (Potential).		E -> K (in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state).		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			ovary(1)|breast(1)|skin(1)	3		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)		TGTGTGGATAGAGCACGTAAG	0.294													T	233392150	G	T	233392150	4	4	172	1	0	0	0	0	0	1	0	0	3394	943	33	5	248	5	CHRND	2	233392150	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	933993	233392150	9807223	309	93421											
TRPM8	79054	broad.mit.edu	37	chr2	234835246	234835246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacactctggacagcaccCggaccctgtactccagcgcg	10	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:234835246C>T	uc002vvh.2	+	2	104	c.64C>T	c.(64-66)CGG>TGG	p.R22W	TRPM8_uc010fyj.2_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	22	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		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)	GGACAGCACCCGGACCCTGTA	0.512													T	234835246	C	T	234835246	3	4	172	1	0	0	0	0	1	0	0	0	16589	643	23	1	66	1	TRPM8	2	234835246	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1443096	234835246	8364127	310	93422											
AGAP1	116987	broad.mit.edu	37	chr2	237029052	237029052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcgctgcatctggcctgCcgcaaggggaatgtggtcct	15	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:237029052C>T	uc002vvs.2	+	17	2926	c.2331C>T	c.(2329-2331)TGC>TGT	p.C777C	AGAP1_uc002vvt.2_Silent_p.C724C	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	777	ANK 1.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						ATCTGGCCTGCCGCAAGGGGA	0.682													T	237029052	C	T	237029052	2	4	172	1	0	0	0	0	0	0	0	1	366	747	26	2		2	AGAP1	2	237029052	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2193806	237029052	6170321	311	93423											
HDAC4	9759	broad.mit.edu	37	chr2	240029856	240029856	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcactggtgcttcaGcatcagcgtgtcatacacga	12	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:240029856G>C	uc002vyk.3	-	15	2779	c.1987C>G	c.(1987-1989)CTG>GTG	p.L663V	HDAC4_uc010fyz.1_Missense_Mutation_p.L658V|HDAC4_uc010zoa.1_Missense_Mutation_p.L663V|HDAC4_uc010fza.2_Missense_Mutation_p.L668V|HDAC4_uc010fyy.2_Missense_Mutation_p.L620V|HDAC4_uc010znz.1_Missense_Mutation_p.L546V	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	663	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			breast(3)|skin(2)|ovary(1)	6		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)		TGGTGCTTCAGCATCAGCGTG	0.706													C	240029856	G	C	240029856	3	2	172	1	0	0	0	0	1	0	0	0	7009	962	34	5	1319	5	HDAC4	2	240029856	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3000804	240029856	3169517	312	93424											
HDAC4	9759	broad.mit.edu	37	chr2	240048352	240048352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccaaccaaggactgtgCgtggaggggcagtgctccca	14	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:240048352C>T	uc002vyk.3	-	12	2110	c.1318G>A	c.(1318-1320)GCA>ACA	p.A440T	HDAC4_uc010fyz.1_Missense_Mutation_p.A435T|HDAC4_uc010zoa.1_Missense_Mutation_p.A440T|HDAC4_uc010fza.2_Missense_Mutation_p.A445T|HDAC4_uc010fyy.2_Missense_Mutation_p.A397T|HDAC4_uc010znz.1_Missense_Mutation_p.A323T|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	440					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			breast(3)|skin(2)|ovary(1)	6		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)		AAGGACTGTGCGTGGAGGGGC	0.622													T	240048352	C	T	240048352	3	4	172	1	0	0	0	0	1	0	0	0	7009	768	27	1	2000	1	HDAC4	2	240048352	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	18496	240048352	3151021	313	93425											
NDUFA10	4705	broad.mit.edu	37	chr2	240954271	240954271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacctcgttgtagtggTccacacctggcacataggag	10	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:240954271T>C	uc002vyn.2	-	5	634	c.554A>G	c.(553-555)GAC>GGC	p.D185G	NDUFA10_uc010fzc.1_Missense_Mutation_p.D225G|NDUFA10_uc002vyo.1_Missense_Mutation_p.D185G	NM_004544	NP_004535	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	185					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GTTGTAGTGGTCCACACCTGG	0.547													C	240954271	T	C	240954271	3	2	172	1	0	0	0	0	1	0	0	0	10260	1667	58	3	537	3	NDUFA10	2	240954271	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	905919	240954271	2245102	314	93426											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516004	241516004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgccgctggctgagccGgacctgtctcagggatccag	15	15	1	1	rs139086666		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:241516004G>A	uc002vzi.2	+	9	1463	c.870G>A	c.(868-870)CCG>CCA	p.P290P	RNPEPL1_uc010fzf.2_Silent_p.P196P|RNPEPL1_uc002vzj.2_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	290					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGGCTGAGCCGGACCTGTCTC	0.682													A	241516004	G	A	241516004	2	1	172	1	0	0	0	0	0	0	0	1	13510	1103	39	1		1	RNPEPL1	2	241516004	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	561733	241516004	1683369	315	93427											
KIF1A	547	broad.mit.edu	37	chr2	241683449	241683449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggctcttgatgtactcaAtgaaggacttggtcacctcc	10	11	3	2	rs35698242		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:241683449A>G	uc002vzy.2	-	31	3337	c.3191T>C	c.(3190-3192)ATT>ACT	p.I1064T	KIF1A_uc010fzk.2_Missense_Mutation_p.I1165T|KIF1A_uc002vzz.1_Missense_Mutation_p.I1165T	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1064					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		GATGTACTCAATGAAGGACTT	0.597													G	241683449	A	G	241683449	3	3	172	1	0	0	0	0	1	0	0	0	8283	101	4	3	1949	3	KIF1A	2	241683449	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	167445	241683449	1515924	316	93428											
PPP1R7	5510	broad.mit.edu	37	chr2	242092999	242092999	+	Frame_Shift_Del	DEL	G	G	-													cctgaaggatggggaggagcGgggggaggaggacccagaag					rs140300724		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:242092999delG	uc002wat.1	+	2	176	c.161delG	c.(160-162)CGGfs	p.R54fs	PPP1R7_uc010fzm.1_Frame_Shift_Del_p.R38fs|PPP1R7_uc002war.2_Frame_Shift_Del_p.R54fs|PPP1R7_uc002was.2_Frame_Shift_Del_p.R54fs|PPP1R7_uc002wau.1_Intron|PPP1R7_uc002wav.1_5'UTR	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		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)		GGGGAGGAGCGGGGGGAGGAG	0.627													-	242092999	G	-	242092999	7	5	172	1	0	1	0	1	0	0	0	0	12376	1116	39	0	167	0	PPP1R7	2	242092999	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	409550	242092999	1106374	317	93429											
HDLBP	3069	broad.mit.edu	37	chr2	242176107	242176107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacacctccttggagagcCggggtcacaatctttagcct	10	13	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:242176107C>T	uc002waz.2	-	21	3055	c.2827G>A	c.(2827-2829)GGC>AGC	p.G943S	HDLBP_uc002wba.2_Missense_Mutation_p.G943S|HDLBP_uc002wbb.2_Missense_Mutation_p.G895S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	943	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		CTTGGAGAGCCGGGGTCACAA	0.547													T	242176107	C	T	242176107	3	4	172	1	0	0	0	0	1	0	0	0	7025	652	23	1	1011	1	HDLBP	2	242176107	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	83108	242176107	1023266	318	93430											
C2orf85	285093	broad.mit.edu	37	chr2	242815392	242815392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgatgtgcatgtgtcGgctgaaccccgggatctacc	13	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr2:242815392G>A	uc010fzu.1	+	2	1708	c.1685G>A	c.(1684-1686)CGG>CAG	p.R562Q		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	562						integral to membrane				ovary(1)	1						TGCATGTGTCGGCTGAACCCC	0.662													A	242815392	G	A	242815392	3	1	172	1	0	0	0	0	1	0	0	0	2200	1116	39	1	1691	1	C2orf85	2	242815392	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	639285	242815392	383981	319	93431											
RAD18	56852	broad.mit.edu	37	chr3	8944121	8944121	+	Frame_Shift_Del	DEL	T	T	-													ttcttttgttattgttactgTtttttgtgacattccagcaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:8944121delT	uc003brd.2	-	10	1188	c.1111delA	c.(1111-1113)ACAfs	p.T371fs	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	371					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATTGTTACTGTTTTTTGTGAC	0.318								Rad6_pathway					-	8944121	T	-	8944121	7	5	172	1	0	1	0	1	0	0	0	0	12980	1725	60	0	392	0	RAD18	3	8944121	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08		8944121	189078309	320	93432											
ATP2B2	491	broad.mit.edu	37	chr3	10452437	10452437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttggcttctttggagGtataaagttttgcccaaaaa	10	5	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:10452437G>A	uc003bvt.2	-	3	701	c.262C>T	c.(262-264)CCT>TCT	p.P88S	ATP2B2_uc003bvv.2_Missense_Mutation_p.P88S|ATP2B2_uc003bvw.2_Missense_Mutation_p.P88S|ATP2B2_uc010hdp.2_Missense_Mutation_p.P88S|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	88	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TTCTTTGGAGGTATAAAGTTT	0.557													A	10452437	G	A	10452437	3	1	172	1	0	0	0	0	1	0	0	0	1140	1261	44	4	3553	4	ATP2B2	3	10452437	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1508316	10452437	187569993	321	93433											
TBC1D5	9779	broad.mit.edu	37	chr3	17208262	17208262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagtttctgtacctgTttaatggcccctgacatttg	8	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:17208262T>C	uc003cbf.2	-	21	3756	c.2091A>G	c.(2089-2091)AAA>AAG	p.K697K	TBC1D5_uc010heu.2_Silent_p.K284K|TBC1D5_uc010hev.2_Silent_p.K719K|TBC1D5_uc003cbe.2_Silent_p.K697K	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	697						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCTGTACCTGTTTAATGGCCC	0.483													C	17208262	T	C	17208262	2	2	172	1	0	0	0	0	0	0	0	1	15620	1722	60	3		3	TBC1D5	3	17208262	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6755825	17208262	180814168	322	93434											
EFHB	151651	broad.mit.edu	37	chr3	19974823	19974823	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttccagcctcctttcTctgttcatgttgttgggcaa	8	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:19974823T>G	uc003cbl.3	-	1	884	c.688A>C	c.(688-690)AGA>CGA	p.R230R	EFHB_uc003cbm.2_Silent_p.R100R	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						GCCTCCTTTCTCTGTTCATGT	0.507													G	19974823	T	G	19974823	2	3	172	1	0	0	0	0	0	0	0	1	4945	1559	54	5		5	EFHB	3	19974823	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2766561	19974823	178047607	323	93435											
THRB	7068	broad.mit.edu	37	chr3	24185077	24185077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttttgatgagctcccatTcctcgtctgtgggctctggc	11	12	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:24185077T>C	uc003ccx.3	-	8	1002	c.653A>G	c.(652-654)GAA>GGA	p.E218G	THRB_uc010hfe.2_Missense_Mutation_p.E218G|THRB_uc003ccy.3_Missense_Mutation_p.E218G|THRB_uc003ccz.3_Missense_Mutation_p.E213G	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	218					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAGCTCCCATTCCTCGTCTGT	0.567													C	24185077	T	C	24185077	3	2	172	1	0	0	0	0	1	0	0	0	15872	1783	62	3	748	3	THRB	3	24185077	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4210254	24185077	173837353	324	93436											
TRANK1	9881	broad.mit.edu	37	chr3	36873314	36873314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaatctcccggaagtggCgatacaggagaggcttgcag	13	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:36873314C>T	uc003cgj.2	-	12	6280	c.5978G>A	c.(5977-5979)CGC>CAC	p.R1993H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2543					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CCGGAAGTGGCGATACAGGAG	0.592													T	36873314	C	T	36873314	3	4	172	1	0	0	0	0	1	0	0	0	16451	768	27	1	1161	1	TRANK1	3	36873314	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	12688237	36873314	161149116	325	93437											
TRANK1	9881	broad.mit.edu	37	chr3	36875321	36875321	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttatttgcactcagaTactttgctgcagcttccaag	6	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:36875321T>A	uc003cgj.2	-	12	4273	c.3971A>T	c.(3970-3972)TAT>TTT	p.Y1324F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1874					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGCACTCAGATACTTTGCTGC	0.433													A	36875321	T	A	36875321	3	1	172	1	0	0	0	0	1	0	0	0	16451	1406	49	5	3168	5	TRANK1	3	36875321	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2007	36875321	161147109	326	93438											
DLEC1	9940	broad.mit.edu	37	chr3	38139378	38139378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagcccagtctccctccaGgaaaggcctgaggatgtaag	13	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:38139378G>T	uc003cho.1	+	18	2730	c.2709G>T	c.(2707-2709)CAG>CAT	p.Q903H	DLEC1_uc003chp.1_Missense_Mutation_p.Q903H|DLEC1_uc010hgv.1_Missense_Mutation_p.Q903H|DLEC1_uc003chr.1_Missense_Mutation_p.Q9H|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	903					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCTCCCTCCAGGAAAGGCCTG	0.587													T	38139378	G	T	38139378	3	4	172	1	0	0	0	0	1	0	0	0	4552	991	35	5	2779	5	DLEC1	3	38139378	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1264057	38139378	159883052	327	93439											
OXSR1	9943	broad.mit.edu	37	chr3	38287635	38287635	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatctctgctcatctacctCagccagctgggcagattgct	9	13	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:38287635C>T	uc003chy.2	+	13	1522	c.1180C>T	c.(1180-1182)CAG>TAG	p.Q394*	OXSR1_uc010hhb.2_Nonsense_Mutation_p.Q328*	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	394					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)		TCATCTACCTCAGCCAGCTGG	0.493													T	38287635	C	T	38287635	4	4	172	1	0	0	0	0	0	1	0	0	11336	827	29	4	1230	4	OXSR1	3	38287635	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	148257	38287635	159734795	328	93440											
WDR48	57599	broad.mit.edu	37	chr3	39107318	39107318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaagatccatatatagCatctatggaacaccatactg	6	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:39107318C>T	uc003cit.2	+	3	216	c.206C>T	c.(205-207)GCA>GTA	p.A69V	WDR48_uc011ayt.1_Missense_Mutation_p.A69V|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	69					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCATATATAGCATCTATGGAA	0.289													T	39107318	C	T	39107318	3	4	172	1	0	0	0	0	1	0	0	0	17298	710	25	2	216	2	WDR48	3	39107318	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	819683	39107318	158915112	329	93441											
ZNF620	253639	broad.mit.edu	37	chr3	40557593	40557593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagaatggagagaagTttgagaaattaggaaaaaat	12	1	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:40557593T>C	uc003ckk.2	+	5	657	c.508T>C	c.(508-510)TTT>CTT	p.F170L	ZNF620_uc003ckl.2_Missense_Mutation_p.F56L	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGGAGAGAAGTTTGAGAAATT	0.403													C	40557593	T	C	40557593	3	2	172	1	0	0	0	0	1	0	0	0	18041	1725	60	3	522	3	ZNF620	3	40557593	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1450275	40557593	157464837	330	93442											
C3orf39	84892	broad.mit.edu	37	chr3	43122150	43122150	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggatctcattgcctgagacGaggatgttggccttcgggcc	14	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:43122150G>A	uc003cmq.1	-	2	915	c.774C>T	c.(772-774)CTC>CTT	p.L258L	C3orf39_uc003cmr.1_Silent_p.L258L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	258						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		TGCCTGAGACGAGGATGTTGG	0.562													A	43122150	G	A	43122150	2	1	172	1	0	0	0	0	0	0	0	1	2229	1045	37	1		1	C3orf39	3	43122150	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2564557	43122150	154900280	331	93443											
C3orf23	285343	broad.mit.edu	37	chr3	44434452	44434453	+	Nonsense_Mutation	DNP	GC	GC	TT													gatgaactgtctcatcaattGcaactctcagatatcaggta							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44434452_44434453GC>TT	uc010him.2	+	6	923_924	c.678_679GC>TT	c.(676-681)TTGCAA>TTTTAA	p.226_227LQ>F*	C3orf23_uc003cnd.3_Nonsense_Mutation_p.226_227LQ>F*|C3orf23_uc003cne.3_Nonsense_Mutation_p.82_83LQ>F*	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	hypothetical protein LOC285343 isoform 1	226_227						mitochondrion				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CTCATCAATTGCAACTCTCAGA	0.322													TT	44434453	GC	TT	44434452	4	4	172	1	0	0	0	0	0	1	0	0	2216	1310	46	5	748	5	C3orf23	3	44434452	Nonsense_Mutation	DNP	GC	TCGA-CG-4442-01A-01D-1158-08	1312302	44434452	153587978	332	93444											
ZNF197	10168	broad.mit.edu	37	chr3	44683855	44683855	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggctttattcagcgttcGagccttctaatgcatttacg	8	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44683855G>A	uc003cnm.2	+	6	1439	c.1233G>A	c.(1231-1233)TCG>TCA	p.S411S	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	411	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTCAGCGTTCGAGCCTTCTAA	0.373													A	44683855	G	A	44683855	2	1	172	1	0	0	0	0	0	0	0	1	17756	1045	37	1		1	ZNF197	3	44683855	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	249403	44683855	153338575	333	93445											
ZNF197	10168	broad.mit.edu	37	chr3	44684845	44684845	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaggattgtgggaaGgctttcagttacaattcaag	12	4	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44684845G>T	uc003cnm.2	+	6	2429	c.2223G>T	c.(2221-2223)AAG>AAT	p.K741N	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	741	C2H2-type 14.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATTGTGGGAAGGCTTTCAGTT	0.423													T	44684845	G	T	44684845	3	4	172	1	0	0	0	0	1	0	0	0	17756	991	35	5	2241	5	ZNF197	3	44684845	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	990	44684845	153337585	334	93446											
ZNF502	91392	broad.mit.edu	37	chr3	44762936	44762936	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcacactggagtgaaAccatatggatgtgagcagtg	12	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:44762936A>G	uc011baa.1	+	4	882	c.627A>G	c.(625-627)AAA>AAG	p.K209K	ZNF502_uc003cns.2_Silent_p.K209K|ZNF502_uc011bab.1_Silent_p.K209K|ZNF502_uc003cnt.2_Silent_p.K209K	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTGGAGTGAAACCATATGGAT	0.408													G	44762936	A	G	44762936	2	3	172	1	0	0	0	0	0	0	0	1	17947	40	2	3		3	ZNF502	3	44762936	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	78091	44762936	153259494	335	93447											
PTPN23	25930	broad.mit.edu	37	chr3	47451532	47451532	+	Frame_Shift_Del	DEL	C	C	-													cctgaggagctgcgcagcctCccccctgacatggtggctgg					rs77776224	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:47451532delC	uc003crf.1	+	20	2340	c.2244delC	c.(2242-2244)CTCfs	p.L748fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.L713fs|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Frame_Shift_Del_p.L618fs	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	748	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGCAGCCTCCCCCCTGACA	0.701													-	47451532	C	-	47451532	7	5	172	1	0	1	0	1	0	0	0	0	12788	842	30	0	2322	0	PTPN23	3	47451532	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	2688596	47451532	150570898	336	93448											
SMARCC1	6599	broad.mit.edu	37	chr3	47719787	47719787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgtgtcaatcataaaatttCgatatgccaagtatctaaaa	5	7	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:47719787C>T	uc003crq.2	-	16	1590	c.1472G>A	c.(1471-1473)CGA>CAA	p.R491Q	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R382Q	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	491	SWIRM.				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			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATAAAATTTCGATATGCCAA	0.388													T	47719787	C	T	47719787	3	4	172	1	0	0	0	0	1	0	0	0	14775	884	31	1	1897	1	SMARCC1	3	47719787	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	268255	47719787	150302643	337	93449											
DHX30	22907	broad.mit.edu	37	chr3	47888976	47888976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaggagtgcagcagcGcctccaggaggccctgggca	15	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:47888976G>A	uc003cru.2	+	13	2486	c.2060G>A	c.(2059-2061)CGC>CAC	p.R687H	DHX30_uc003crt.2_Missense_Mutation_p.R648H|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	687	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGCAGCAGCGCCTCCAGGAG	0.627													A	47888976	G	A	47888976	3	1	172	1	0	0	0	0	1	0	0	0	4504	1087	38	1	2113	1	DHX30	3	47888976	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	169189	47888976	150133454	338	93450											
TREX1	11277	broad.mit.edu	37	chr3	48508192	48508193	+	Frame_Shift_Ins	INS	-	-	C													acagatgtgccctggagagcINSccccccacctctcaggggcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48508191_48508192G>GC	uc003ctj.3	+	1	1559_1560	c.302_303G>GC	c.(301-303)agcfs	p.S101fs	TREX1_uc010hjy.3_Frame_Shift_Ins_p.S46fs|TREX1_uc010hjz.3_Frame_Shift_Ins_p.S46fs|TREX1_uc003ctk.3_5'UTR|TREX1_uc010hka.3_Frame_Shift_Ins_p.S101fs	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	101					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion 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)		GCCCTGGAGAGCCCCCCCACCT	0.644													C	48508193	-	C	48508192	7	5	172	1	0	1	1	0	0	0	0	0	16473	738	26	0	305	0	TREX1	3	48508192	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	619216	48508192	149514238	339	93451											
COL7A1	1294	broad.mit.edu	37	chr3	48628108	48628108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctgcagtactcacccCggcggacagtgaggacactg	12	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48628108C>T	uc003ctz.2	-	13	1779	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	593	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTACTCACCCCGGCGGACAGT	0.592													T	48628108	C	T	48628108	3	4	172	1	0	0	0	0	1	0	0	0	3704	652	23	1	7480	1	COL7A1	3	48628108	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	119916	48628108	149394322	340	93452											
COL7A1	1294	broad.mit.edu	37	chr3	48631901	48631901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgagaaagctgcggacctCgcggaaattgctgcggccaa	13	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48631901C>T	uc003ctz.2	-	2	167	c.166G>A	c.(166-168)GAG>AAG	p.E56K		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	56	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCGGACCTCGCGGAAATTG	0.602													T	48631901	C	T	48631901	3	4	172	1	0	0	0	0	1	0	0	0	3704	893	31	1	9136	1	COL7A1	3	48631901	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3793	48631901	149390529	341	93453											
UQCRC1	7384	broad.mit.edu	37	chr3	48636573	48636573	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgcctagaagcgcagCcagaacatgccgctacggat	10	15	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48636573C>T	uc003cub.1	-	13	1476	c.1431G>A	c.(1429-1431)TGG>TGA	p.W477*	UQCRC1_uc003cua.1_Nonsense_Mutation_p.W362*|UQCRC1_uc003cuc.1_Nonsense_Mutation_p.W478*|UQCRC1_uc003cud.1_Nonsense_Mutation_p.W476*	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	477					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AGAAGCGCAGCCAGAACATGC	0.627													T	48636573	C	T	48636573	4	4	172	1	0	0	0	0	0	1	0	0	17016	740	26	2	15	2	UQCRC1	3	48636573	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4672	48636573	149385857	342	93454											
TMEM89	440955	broad.mit.edu	37	chr3	48659073	48659073	+	Frame_Shift_Del	DEL	C	C	-													tccacactctttggctgacaCccccagggctgcaagtccag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48659072_48659072AC>A	uc011bbo.2	-	0	118	c.118_118GT>T	c.(118-120)tgtfs	p.C40fs		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	Homo sapiens transmembrane protein 89 (TMEM89), mRNA.	40						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTGGCTGACACCCCCAGGGC	0.662													-	48659073	C	-	48659073	7	5	172	1	0	1	0	1	0	0	0	0	16210	494	18	0	369	0	TMEM89	3	48659073	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	22500	48659073	149363357	343	93455											
CELSR3	1951	broad.mit.edu	37	chr3	48677916	48677916	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacggtggcccaaggtggcTgcacggcaccaggacagctc	15	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:48677916T>G	uc003cul.2	-	34	9383	c.9102A>C	c.(9100-9102)GCA>GCC	p.A3034A	CELSR3_uc003cuf.1_Silent_p.A3132A|CELSR3_uc010hkf.2_Silent_p.A324A|CELSR3_uc010hkg.2_Silent_p.A1017A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	3034	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAAGGTGGCTGCACGGCACC	0.632													G	48677916	T	G	48677916	2	3	172	1	0	0	0	0	0	0	0	1	3223	1567	55	5		5	CELSR3	3	48677916	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	18843	48677916	149344514	344	93456											
AMT	275	broad.mit.edu	37	chr3	49459855	49459855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggcgaaagcccagaCgggccaccacacttacagcc	10	17	0	1	rs150649086		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49459855C>T	uc003cww.2	-	1	158	c.29G>A	c.(28-30)CGT>CAT	p.R10H	AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Missense_Mutation_p.R10H|AMT_uc011bco.1_Missense_Mutation_p.R10H|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Missense_Mutation_p.R10H|NICN1_uc003cwz.1_3'UTR	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	10					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				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)	AAAGCCCAGACGGGCCACCAC	0.642													T	49459855	C	T	49459855	3	4	172	1	0	0	0	0	1	0	0	0	589	536	19	1	1246	1	AMT	3	49459855	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	781939	49459855	148562575	345	93457											
BSN	8927	broad.mit.edu	37	chr3	49700719	49700719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtactcacagccatccCgtgcttcatccgcataccat	6	16	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49700719C>A	uc003cxe.3	+	7	11242	c.11128C>A	c.(11128-11130)CGT>AGT	p.R3710S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3710					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACAGCCATCCCGTGCTTCATC	0.632													A	49700719	C	A	49700719	3	1	172	1	0	0	0	0	1	0	0	0	1530	652	23	5	11154	5	BSN	3	49700719	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	240864	49700719	148321711	346	93458											
APEH	327	broad.mit.edu	37	chr3	49714427	49714427	+	Frame_Shift_Del	DEL	C	C	-													ctgcagtacccatctctgatCccccatcaccaatgcagcca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49714427delC	uc003cxf.2	+	10	1369	c.969delC	c.(967-969)ATCfs	p.I323fs	APEH_uc010hkw.1_Frame_Shift_Del_p.I323fs	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	323					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATCTCTGATCCCCCATCACC	0.602													-	49714427	C	-	49714427	7	5	172	1	0	1	0	1	0	0	0	0	768	845	30	0	1007	0	APEH	3	49714427	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	13708	49714427	148308003	347	93459											
RNF123	63891	broad.mit.edu	37	chr3	49736480	49736480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtatggcctacttcccaGccatcagcctctctttcaag	8	14	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49736480G>A	uc003cxh.2	+	10	792	c.706G>A	c.(706-708)GCC>ACC	p.A236T	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	236	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTACTTCCCAGCCATCAGCCT	0.567													A	49736480	G	A	49736480	3	1	172	1	0	0	0	0	1	0	0	0	13433	971	34	2	740	2	RNF123	3	49736480	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	22053	49736480	148285950	348	93460											
C3orf54	389119	broad.mit.edu	37	chr3	49842011	49842011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctgtccaccatccacGgcccaagtccaccccagacg	6	21	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:49842011G>A	uc003cxq.1	+	2	588	c.455G>A	c.(454-456)CGG>CAG	p.R152Q		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	150											0				BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CACCATCCACGGCCCAAGTCC	0.662													A	49842011	G	A	49842011	3	1	172	1	0	0	0	0	1	0	0	0	2233	1116	39	1	461	1	C3orf54	3	49842011	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	105531	49842011	148180419	349	93461											
RBM6	10180	broad.mit.edu	37	chr3	50005145	50005145	+	Frame_Shift_Del	DEL	G	G	-													gggacctggacatgatttcaGggggggagatttttcgtctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50005144_50005144AG>A	uc003cyc.3	+	2	534	c.286_286AG>A	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					RNA processing	nucleus	DNA binding|RNA binding|nucleotide 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)		ACATGATTTCAGGGGGGGAGA	0.498													-	50005145	G	-	50005145	7	5	172	1	0	1	0	1	0	0	0	0	13144	1000	35	0	293	0	RBM6	3	50005145	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	163134	50005145	148017285	350	93462											
GNAI2	2771	broad.mit.edu	37	chr3	50293689	50293689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagcaagatgtgctacGgacccgcgtaaagaccacgg	11	13	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50293689G>A	uc003cyq.1	+	5	651	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	GNAI2_uc003cyo.1_Missense_Mutation_p.R161Q|GNAI2_uc003cyp.1_Missense_Mutation_p.R161Q|GNAI2_uc010hlg.1_Missense_Mutation_p.R96Q|GNAI2_uc011bdn.1_Missense_Mutation_p.R140Q|GNAI2_uc003cyr.1_Missense_Mutation_p.R96Q	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	177	GTP (By similarity).				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			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GATGTGCTACGGACCCGCGTA	0.597													A	50293689	G	A	50293689	3	1	172	1	0	0	0	0	1	0	0	0	6505	1116	39	1	559	1	GNAI2	3	50293689	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	288544	50293689	147728741	351	93463											
C3orf45	132228	broad.mit.edu	37	chr3	50316562	50316562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgccatcattggccccCgactgcccactgcttgccat	9	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50316562C>T	uc003cyz.2	+	1	45	c.18C>T	c.(16-18)CCC>CCT	p.P6P		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	6						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATTGGCCCCCGACTGCCCAC	0.602													T	50316562	C	T	50316562	2	4	172	1	0	0	0	0	0	0	0	1	2231	639	23	1		1	C3orf45	3	50316562	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	22873	50316562	147705868	352	93464											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50683670	50683670	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtacggcttccccaatccTgagtggtcagaagtctctga	10	12	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:50683670T>C	uc003day.1	+	10	1400	c.804T>C	c.(802-804)CCT>CCC	p.P268P	MAPKAPK3_uc003daz.1_Silent_p.P268P|MAPKAPK3_uc003dba.1_Silent_p.P268P|MAPKAPK3_uc010hlr.1_Silent_p.P268P	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	268	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			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TCCCCAATCCTGAGTGGTCAG	0.547													C	50683670	T	C	50683670	2	2	172	1	0	0	0	0	0	0	0	1	9290	1567	55	3		3	MAPKAPK3	3	50683670	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	367108	50683670	147338760	353	93465											
RBM15B	29890	broad.mit.edu	37	chr3	51430939	51430939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctggaagagccaaaacaCgagaccaaaaagctgaagaa	9	10	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51430939C>T	uc003dbd.2	+	1	2209	c.2109C>T	c.(2107-2109)CAC>CAT	p.H703H		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	703					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				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCCAAAACACGAGACCAAAA	0.542													T	51430939	C	T	51430939	2	4	172	1	0	0	0	0	0	0	0	1	13117	535	19	1		1	RBM15B	3	51430939	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	747269	51430939	146591491	354	93466											
VPRBP	9730	broad.mit.edu	37	chr3	51457448	51457449	+	Frame_Shift_Ins	INS	-	-	T													gaagatgtctgtccagctgtINSttttttatggctgggctttg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51457447_51457448G>GT	uc003dbe.2	-	13	3002_3003	c.2817_2818C>AC	c.(2815-2820)aaacagfs	p.K939fs	VPRBP_uc021wys.1_Frame_Shift_Ins_p.K938fs|VPRBP_uc003dbf.1_Frame_Shift_Ins_p.K268fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	992					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)		CTGTCCAGCTGTTTTTTTATGG	0.5													T	51457449	-	T	51457448	7	5	172	1	0	1	1	0	0	0	0	0	17182	1722	60	0	1591	0	VPRBP	3	51457448	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	26509	51457448	146564982	355	93467											
RAD54L2	23132	broad.mit.edu	37	chr3	51696633	51696633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccccaagcaccaatgccGccctgcctggccccccggcc	9	23	0	0	rs146832677	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51696633G>A	uc011bdt.1	+	22	3726	c.3601G>A	c.(3601-3603)GCC>ACC	p.A1201T	RAD54L2_uc003dbh.2_Missense_Mutation_p.A790T|RAD54L2_uc011bdu.1_Missense_Mutation_p.A895T|RAD54L2_uc003dbj.2_Missense_Mutation_p.A527T	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1201						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CACCAATGCCGCCCTGCCTGG	0.607													A	51696633	G	A	51696633	3	1	172	1	0	0	0	0	1	0	0	0	12994	1087	38	1	3683	1	RAD54L2	3	51696633	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	239185	51696633	146325797	356	93468											
GRM2	2912	broad.mit.edu	37	chr3	51751698	51751698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagcctcagcggctccGtggtgcttggctgcctcttt	12	14	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51751698G>A	uc010hlv.2	+	5	2649	c.2410G>A	c.(2410-2412)GTG>ATG	p.V804M	GRM2_uc003dbo.3_Missense_Mutation_p.V186M|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	804	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	CAGCGGCTCCGTGGTGCTTGG	0.627													A	51751698	G	A	51751698	3	1	172	1	0	0	0	0	1	0	0	0	6797	1145	40	1	2424	1	GRM2	3	51751698	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	55065	51751698	146270732	357	93469											
RRP9	9136	broad.mit.edu	37	chr3	51970485	51970485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatggccatgcagaggaCgtggctgctgtggccagggg	20	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51970485C>T	uc003dbw.1	-	7	643	c.604G>A	c.(604-606)GTC>ATC	p.V202I		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	202	WD 2.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ATGCAGAGGACGTGGCTGCTG	0.642													T	51970485	C	T	51970485	3	4	172	1	0	0	0	0	1	0	0	0	13691	536	19	1	859	1	RRP9	3	51970485	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	218787	51970485	146051945	358	93470											
PARP3	10039	broad.mit.edu	37	chr3	51980202	51980202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagattccaggcccaCtccaaactgggtaatcggaa	10	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51980202C>T	uc003dby.2	+	9	1490	c.1119C>T	c.(1117-1119)CAC>CAT	p.H373H	PARP3_uc003dbz.2_Silent_p.H380H	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	373	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCCAGGCCCACTCCAAACTGG	0.587													T	51980202	C	T	51980202	2	4	172	1	0	0	0	0	0	0	0	1	11462	564	20	4		4	PARP3	3	51980202	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9717	51980202	146042228	359	93471											
GPR62	118442	broad.mit.edu	37	chr3	51989789	51989789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctggtcgtggtgctgCgcacgccgggactgcgcgac	17	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:51989789C>T	uc003dca.3	+	1	460	c.121C>T	c.(121-123)CGC>TGC	p.R41C		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	41	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGTGGTGCTGCGCACGCCGGG	0.711													T	51989789	C	T	51989789	3	4	172	1	0	0	0	0	1	0	0	0	6703	768	27	1	123	1	GPR62	3	51989789	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9587	51989789	146032641	360	93472											
TLR9	54106	broad.mit.edu	37	chr3	52255388	52255388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggcgctggcgcagccGcacgtagcgggagcggcggc	20	13	0	1	rs142806370		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52255388G>A	uc003dda.1	-	2	3578	c.2944C>T	c.(2944-2946)CGG>TGG	p.R982W	TLR9_uc003ddb.2_Missense_Mutation_p.R1079W	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	982	TIR.|Cytoplasmic (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGGCGCAGCCGCACGTAGCGG	0.716													A	52255388	G	A	52255388	3	1	172	1	0	0	0	0	1	0	0	0	15955	1086	38	1	158	1	TLR9	3	52255388	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	265599	52255388	145767042	361	93473											
PHF7	51533	broad.mit.edu	37	chr3	52453868	52453868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcttatctagtaagctgcCtcagaggggccagtccaaca	10	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52453868C>A	uc003ddy.2	+	5	1012	c.206C>A	c.(205-207)CCT>CAT	p.P69H	PHF7_uc003ddz.2_Missense_Mutation_p.P69H	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	PHD finger protein 7 isoform 1	69						nucleus	zinc ion binding			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGTAAGCTGCCTCAGAGGGGC	0.498													A	52453868	C	A	52453868	3	1	172	1	0	0	0	0	1	0	0	0	11839	681	24	5	220	5	PHF7	3	52453868	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	198480	52453868	145568562	362	93474											
STAB1	23166	broad.mit.edu	37	chr3	52543930	52543931	+	Frame_Shift_Ins	INS	-	-	G													cgacaaccgcccaggcagtgINSggggggtgtgccagcagggc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52543929_52543930T>TG	uc003dej.3	+	22	2465_2466	c.2391_2392T>TG	c.(2389-2394)agtgggfs	p.S797fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	797					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)		GCCCAGGCAGTGGGGGGGTGTG	0.653													G	52543931	-	G	52543930	7	5	172	1	0	1	1	0	0	0	0	0	15236	1348	47	0	2482	0	STAB1	3	52543930	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	90062	52543930	145478500	363	93475											
GNL3	26354	broad.mit.edu	37	chr3	52723158	52723158	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttggttgcagatgtccTcaggtagaagaggccattgt	12	9	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52723158T>G	uc003dfd.2	+	6	650	c.477T>G	c.(475-477)CCT>CCG	p.P159P	GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.P147P|GNL3_uc003dff.2_Silent_p.P147P|SNORD19_uc003dfg.1_5'Flank|SNORD19B_uc010hml.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	159					regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GCAGATGTCCTCAGGTAGAAG	0.428													G	52723158	T	G	52723158	2	3	172	1	0	0	0	0	0	0	0	1	6537	1538	54	5		5	GNL3	3	52723158	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	179228	52723158	145299272	364	93476											
GLT8D1	55830	broad.mit.edu	37	chr3	52730046	52730046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgtattgtaaagggcAagaatatcacctgaaataga	10	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52730046A>G	uc003dfi.3	-	7	682	c.543T>C	c.(541-543)CTT>CTC	p.L181L	GLT8D1_uc003dfj.2_Silent_p.L181L|GLT8D1_uc003dfk.2_Silent_p.L181L|GLT8D1_uc003dfl.2_Silent_p.L181L|GLT8D1_uc003dfm.2_Silent_p.L181L|GLT8D1_uc003dfn.2_Silent_p.L181L|GLT8D1_uc003dfo.1_Silent_p.L181L	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	181	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTAAAGGGCAAGAATATCAC	0.428													G	52730046	A	G	52730046	2	3	172	1	0	0	0	0	0	0	0	1	6469	117	5	3		3	GLT8D1	3	52730046	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6888	52730046	145292384	365	93477											
NEK4	6787	broad.mit.edu	37	chr3	52786250	52786250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgtggctagttctgtggTattgctcaagtcctgtttgc	12	7	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:52786250T>C	uc003dfq.3	-	7	1255	c.1066A>G	c.(1066-1068)ACC>GCC	p.T356A	NEK4_uc011bej.1_Missense_Mutation_p.T267A|NEK4_uc003dfr.2_Missense_Mutation_p.T356A	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	356					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGTTCTGTGGTATTGCTCAAG	0.478													C	52786250	T	C	52786250	3	2	172	1	0	0	0	0	1	0	0	0	10326	1638	57	3	1499	3	NEK4	3	52786250	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	56204	52786250	145236180	366	93478											
CACNA1D	776	broad.mit.edu	37	chr3	53806910	53806910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgttcttcatctatgcGgtcattggcatgcaggtaag	11	8	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:53806910G>A	uc003dgv.3	+	33	4258	c.4095G>A	c.(4093-4095)GCG>GCA	p.A1365A	CACNA1D_uc003dgu.3_Silent_p.A1385A|CACNA1D_uc003dgy.3_Silent_p.A1350A|CACNA1D_uc003dgw.3_Silent_p.A1032A|CACNA1D_uc003dgx.1_Silent_p.A541A	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1365	IV.|Helical; Name=S5 of repeat IV; (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	TCATCTATGCGGTCATTGGCA	0.582													A	53806910	G	A	53806910	2	1	172	1	0	0	0	0	0	0	0	1	2541	1103	39	1		1	CACNA1D	3	53806910	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1020660	53806910	144215520	367	93479											
ACTR8	93973	broad.mit.edu	37	chr3	53910110	53910111	+	Splice_Site	INS	-	-	G													ctgatggaccacaatccctgINSgggggggaaaagaaaaggca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:53910109_53910110T>TG	uc003dhd.3	-	7	880	c.779_splice	c.e7-1	p.G260_splice	ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	260					DNA recombination|DNA repair|cell division|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)		CCACAATCCCTGGGGGGGGAAA	0.515													G	53910111	-	G	53910110	8	5	172	1	0	1	1	0	0	0	1	0	217	1363	47	0		0	ACTR8	3	53910110	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	103200	53910110	144112320	368	93480											
WNT5A	7474	broad.mit.edu	37	chr3	55508419	55508419	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcgagcactctcgtaGgagcccttggcgtggatgcg	16	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:55508419G>T	uc003dhn.2	-	4	948	c.630C>A	c.(628-630)TCC>TCA	p.S210S	WNT5A_uc003dhm.2_Silent_p.S195S|WNT5A_uc010hmw.2_Silent_p.S195S|WNT5A_uc010hmx.2_Silent_p.S121S	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	210					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				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACTCTCGTAGGAGCCCTTGG	0.667													T	55508419	G	T	55508419	2	4	172	1	0	0	0	0	0	0	0	1	17388	987	35	5		5	WNT5A	3	55508419	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1598309	55508419	142514011	369	93481											
FAM116A	201627	broad.mit.edu	37	chr3	57619023	57619023	+	Frame_Shift_Del	DEL	A	A	-													tgaaactttgtgtcagttccAaaaaatagcgtcgaagaata							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:57619023delA	uc003dja.2	-	15	1393	c.1322delT	c.(1321-1323)TTGfs	p.L441fs		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	441										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TGTCAGTTCCAAAAAATAGCG	0.328													-	57619023	A	-	57619023	7	5	172	1	0	1	0	1	0	0	0	0	5407	131	5	0	528	0	FAM116A	3	57619023	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	2110604	57619023	140403407	370	93482											
KCTD6	200845	broad.mit.edu	37	chr3	58486884	58486884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcagaattgaccttacCgttggattttaaggaatttg	8	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:58486884C>T	uc003dkj.3	+	3	356	c.239C>T	c.(238-240)CCG>CTG	p.P80L	KCTD6_uc003dki.3_Missense_Mutation_p.P80L|KCTD6_uc003dkk.3_Missense_Mutation_p.P80L	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN	potassium channel tetramerisation domain	80	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTGACCTTACCGTTGGATTTT	0.418													T	58486884	C	T	58486884	3	4	172	1	0	0	0	0	1	0	0	0	8113	652	23	1	245	1	KCTD6	3	58486884	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	867861	58486884	139535546	371	93483											
PRICKLE2	166336	broad.mit.edu	37	chr3	64184458	64184458	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctcccatccagaatggtAcctgttcaggcttcagaccc	8	14	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:64184458A>G	uc003dmf.2	-	2	730	c.144_splice	c.e2+1	p.Q48_splice		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2							cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		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)		CCAGAATGGTACCTGTTCAGG	0.502													G	64184458	A	G	64184458	5	3	172	1	0	0	0	0	0	0	1	0	12487	405	14	3	2416	3	PRICKLE2	3	64184458	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	5697574	64184458	133837972	372	93484											
LRIG1	26018	broad.mit.edu	37	chr3	66455662	66455662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagaaggcgccgctcgTgtcctctattgtgcccgaaa	11	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:66455662T>C	uc003dmx.2	-	9	1134	c.1120A>G	c.(1120-1122)ACG>GCG	p.T374A	LRIG1_uc011bfu.1_5'Flank|LRIG1_uc003dmw.2_Missense_Mutation_p.T40A|LRIG1_uc010hnz.2_Missense_Mutation_p.T114A|LRIG1_uc010hoa.2_Missense_Mutation_p.T374A	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	374	Extracellular (Potential).|LRR 13.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGCCGCTCGTGTCCTCTATT	0.612													C	66455662	T	C	66455662	3	2	172	1	0	0	0	0	1	0	0	0	8944	1696	59	3	2205	3	LRIG1	3	66455662	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2271204	66455662	131566768	373	93485											
CNTN3	5067	broad.mit.edu	37	chr3	74350697	74350697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccatcgatgacctcaggCactacaaaggaatatttcag	7	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:74350697C>T	uc003dpm.1	-	15	2027	c.1947G>A	c.(1945-1947)GTG>GTA	p.V649V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	649	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		TGACCTCAGGCACTACAAAGG	0.438													T	74350697	C	T	74350697	2	4	172	1	0	0	0	0	0	0	0	1	3642	724	25	2		2	CNTN3	3	74350697	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	7895035	74350697	123671733	374	93486											
ROBO2	6092	broad.mit.edu	37	chr3	77147335	77147335	+	Frame_Shift_Del	DEL	C	C	-													tggagactgacaaggacgatCcccggtcccacaggatgctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:77147334_77147334TC>T	uc011bgk.2	+	1	874	c.231_231TC>T	c.(229-231)gatfs	p.D77fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.D93fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.D77fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.D77fs|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	77	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAAGGACGATCCCCGGTCCC	0.592													-	77147335	C	-	77147335	7	5	172	1	0	1	0	1	0	0	0	0	13514	855	30	0	240	0	ROBO2	3	77147335	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	2796638	77147335	120875095	375	93487											
OR5H1	26341	broad.mit.edu	37	chr3	97852151	97852151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatggtttttattttctcaGgttcaattcaggtattcagc	7	6	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:97852151G>A	uc011bgt.1	+	1	610	c.610G>A	c.(610-612)GGT>AGT	p.G204S		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TATTTTCTCAGGTTCAATTCA	0.313													A	97852151	G	A	97852151	3	1	172	1	0	0	0	0	1	0	0	0	11159	1000	35	4	612	4	OR5H1	3	97852151	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	20704816	97852151	100170279	376	93488											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-													ctgttttcttgttgatttagTtttttttgcaggactgagtg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						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						TGTTGATTTAGTTTTTTTTGC	0.403													-	99568273	T	-	99568273	7	5	172	1	0	1	0	1	0	0	0	0	5895	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1716122	99568273	98454157	377	93489											
GPR128	84873	broad.mit.edu	37	chr3	100413713	100413713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagtgacgcggccgagGctgcgtgtaaagatgtataa	13	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:100413713G>A	uc003duc.2	+	16	2530	c.2262G>A	c.(2260-2262)AGG>AGA	p.R754R	GPR128_uc011bhc.1_Silent_p.R455R|GPR128_uc003dud.2_Silent_p.R277R	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	754	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						CGCGGCCGAGGCTGCGTGTAA	0.458													A	100413713	G	A	100413713	2	1	172	1	0	0	0	0	0	0	0	1	6641	1194	42	2		2	GPR128	3	100413713	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	845440	100413713	97608717	378	93490											
SENP7	57337	broad.mit.edu	37	chr3	101136469	101136469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggctttggcgaagaggTtctaatttttgacatgtctc	10	6	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:101136469T>C	uc003dut.2	-	5	561	c.450A>G	c.(448-450)GAA>GAG	p.E150E	SENP7_uc003duu.2_Silent_p.E150E|SENP7_uc003duv.2_Silent_p.E117E|SENP7_uc003duw.2_Intron|SENP7_uc003dux.2_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	150					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						GGCGAAGAGGTTCTAATTTTT	0.368													C	101136469	T	C	101136469	2	2	172	1	0	0	0	0	0	0	0	1	14051	1722	60	3		3	SENP7	3	101136469	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	722756	101136469	96885961	379	93491											
CEP97	79598	broad.mit.edu	37	chr3	101481356	101481356	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaagagatgaagaacgTattaaaaaatttgtacaaga	8	2	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:101481356T>C	uc003dvk.1	+	10	1872	c.1845T>C	c.(1843-1845)CGT>CGC	p.R615R	CEP97_uc011bhf.1_Silent_p.R556R|CEP97_uc003dvl.1_Silent_p.R311R|CEP97_uc003dvm.1_Silent_p.R453R	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	615	CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						ATGAAGAACGTATTAAAAAAT	0.333													C	101481356	T	C	101481356	2	2	172	1	0	0	0	0	0	0	0	1	3263	1625	57	3		3	CEP97	3	101481356	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	344887	101481356	96541074	380	93492											
ALCAM	214	broad.mit.edu	37	chr3	105252520	105252520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaatggaaaagtgctacAtccccttgaaggaggtgggt	14	7	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:105252520A>G	uc003dvx.2	+	5	1073	c.533A>G	c.(532-534)CAT>CGT	p.H178R	ALCAM_uc003dvw.1_Missense_Mutation_p.H178R|ALCAM_uc003dvy.2_Missense_Mutation_p.H178R|ALCAM_uc011bhh.1_Missense_Mutation_p.H127R|ALCAM_uc010hpp.2_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	178	Extracellular (Potential).|Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						AAAGTGCTACATCCCCTTGAA	0.413													G	105252520	A	G	105252520	3	3	172	1	0	0	0	0	1	0	0	0	487	217	8	3	551	3	ALCAM	3	105252520	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3771164	105252520	92769910	381	93493											
CBLB	868	broad.mit.edu	37	chr3	105470339	105470339	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaatatcaaattcaaaAactgaaatgtaatcattgca	4	5	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:105470339A>G	uc003dwc.2	-	5	1012	c.690T>C	c.(688-690)GTT>GTC	p.V230V	CBLB_uc011bhi.1_Silent_p.V252V|CBLB_uc003dwd.1_Silent_p.V230V|CBLB_uc003dwe.1_Silent_p.V230V|CBLB_uc011bhj.1_RNA	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	230	Potential.|Cbl-PTB.|EF-hand-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			lung(4)|ovary(3)|breast(1)|skin(1)	9						CAAATTCAAAAACTGAAATGT	0.318			Mis S		AML								G	105470339	A	G	105470339	2	3	172	1	0	0	0	0	0	0	0	1	2701	1	1	3		3	CBLB	3	105470339	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	217819	105470339	92552091	382	93494											
HHLA2	11148	broad.mit.edu	37	chr3	108072520	108072520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagattcaaaatgggaatgCgtcgctatttttcagaagag	11	5	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:108072520C>T	uc003dwy.3	+	4	478	c.311C>T	c.(310-312)GCG>GTG	p.A104V	HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Missense_Mutation_p.A104V|HHLA2_uc003dwz.2_Missense_Mutation_p.A104V	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	104	Ig-like V-type 1.					integral to membrane				ovary(1)	1						AATGGGAATGCGTCGCTATTT	0.403													T	108072520	C	T	108072520	3	4	172	1	0	0	0	0	1	0	0	0	7095	768	27	1	317	1	HHLA2	3	108072520	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2602181	108072520	89949910	383	93495											
PVRL3	25945	broad.mit.edu	37	chr3	110852716	110852716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggagaagacggacgtttcGtggagactactttgccaaga	13	7	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:110852716G>A	uc003dxt.1	+	6	1304	c.1304G>A	c.(1303-1305)CGT>CAT	p.R435H	PVRL3_uc003dxu.1_Intron	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	435	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	p.R435C(1)		upper_aerodigestive_tract(2)	2						CGGACGTTTCGTGGAGACTAC	0.418													A	110852716	G	A	110852716	3	1	172	1	0	0	0	0	1	0	0	0	12841	1145	40	1	1326	1	PVRL3	3	110852716	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2780196	110852716	87169714	384	93496											
ATG3	64422	broad.mit.edu	37	chr3	112277267	112277267	+	Splice_Site	DEL	A	A	-													ttccttaaactttgattcctAaaaaaagcagaaagaaaaac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:112277266_112277266TA>T	uc003dzd.3	-	2	183	c.73_splice	c.e2-1	p.E25_splice	ATG3_uc003dzc.3_Splice_Site_p.E25_splice|ATG3_uc010hqe.3_Splice_Site_p.E25_splice	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA.	25					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTTTGATTCCTAAAAAAAGCA	0.323													-	112277267	A	-	112277267	8	5	172	1	0	1	0	1	0	0	1	0	1095	377	13	0		0	ATG3	3	112277267	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1424551	112277267	85745163	385	93497											
BOC	91653	broad.mit.edu	37	chr3	112991451	112991451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaacctcctcatcgacAccaccagcgaggaggactca	9	15	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:112991451A>G	uc003dzx.2	+	7	1483	c.862A>G	c.(862-864)ACC>GCC	p.T288A	BOC_uc003dzy.2_Missense_Mutation_p.T288A|BOC_uc003dzz.2_Missense_Mutation_p.T288A|BOC_uc003eab.2_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	288	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CCTCATCGACACCACCAGCGA	0.627													G	112991451	A	G	112991451	3	3	172	1	0	0	0	0	1	0	0	0	1481	159	6	3	880	3	BOC	3	112991451	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	714184	112991451	85030979	386	93498											
CCDC52	152185	broad.mit.edu	37	chr3	113179491	113179491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtccataactcttctacctgTggctccgctttctgatgcct	7	14	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:113179491T>A	uc003eag.3	-	12	1699	c.1408A>T	c.(1408-1410)ACA>TCA	p.T470S	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.T366S	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	470					cell division|mitosis	centriole|spindle	protein binding				0						CTTCTACCTGTGGCTCCGCTT	0.413													A	113179491	T	A	113179491	3	1	172	1	0	0	0	0	1	0	0	0	2822	1696	59	5	1187	5	CCDC52	3	113179491	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	188040	113179491	84842939	387	93499											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	172	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	878512	114058003	83964427	388	93500											
C3orf30	152405	broad.mit.edu	37	chr3	118866406	118866406	+	Frame_Shift_Del	DEL	A	A	-													gaactataccagcagtcaagAaaaaactcaagccatagtaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:118866405_118866405GA>G	uc003ecb.1	+	0	1409	c.1369_1369GA>G	c.(1369-1371)gaafs	p.E457fs	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Frame_Shift_Del_p.E457fs	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	457										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)		CAGCAGTCAAGAAAAAACTCA	0.423													-	118866406	A	-	118866406	7	5	172	1	0	1	0	1	0	0	0	0	2220	246	9	0	1372	0	C3orf30	3	118866406	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	4808403	118866406	79156024	389	93501											
UPK1B	7348	broad.mit.edu	37	chr3	118909928	118909928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatggagtcaccaaaAcctgggacaggctcatgctc	9	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:118909928A>G	uc003ecc.2	+	5	534	c.445A>G	c.(445-447)ACC>GCC	p.T149A	UPK1B_uc011bix.1_Missense_Mutation_p.T69A|UPK1B_uc003ecd.2_Missense_Mutation_p.T141A	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	149	Extracellular (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)		AGTCACCAAAACCTGGGACAG	0.493													G	118909928	A	G	118909928	3	3	172	1	0	0	0	0	1	0	0	0	17005	43	2	3	459	3	UPK1B	3	118909928	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	43522	118909928	79112502	390	93502											
NR1I2	8856	broad.mit.edu	37	chr3	119531741	119531741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctccctgctgccccacaTggctgacatgtcaacctaca	6	17	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:119531741T>C	uc003edj.2	+	5	2567	c.728T>C	c.(727-729)ATG>ACG	p.M243T	NR1I2_uc003edi.2_Missense_Mutation_p.M206T|NR1I2_uc003edk.2_Missense_Mutation_p.M282T|NR1I2_uc003edl.2_Missense_Mutation_p.M131T	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	243	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			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTGCCCCACATGGCTGACATG	0.547													C	119531741	T	C	119531741	3	2	172	1	0	0	0	0	1	0	0	0	10620	1464	51	3	863	3	NR1I2	3	119531741	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	621813	119531741	78490689	391	93503											
POLQ	10721	broad.mit.edu	37	chr3	121206385	121206385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcttgtgtcactaataGggctgttgtctttgaaccca	9	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121206385G>T	uc003eee.3	-	16	5522	c.5393C>A	c.(5392-5394)CCT>CAT	p.P1798H	POLQ_uc003eed.2_Missense_Mutation_p.P970H	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1798					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		GTCACTAATAGGGCTGTTGTC	0.383								DNA_polymerases_(catalytic_subunits)					T	121206385	G	T	121206385	3	4	172	1	0	0	0	0	1	0	0	0	12208	1000	35	5	2439	5	POLQ	3	121206385	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1674644	121206385	76816045	392	93504											
POLQ	10721	broad.mit.edu	37	chr3	121260235	121260235	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttagccacagaaacaaaGggaagaataaacaaagcttt	7	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121260235G>T	uc003eee.3	-	3	564	c.435C>A	c.(433-435)CCC>CCA	p.P145P		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	145	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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CAGAAACAAAGGGAAGAATAA	0.373								DNA_polymerases_(catalytic_subunits)					T	121260235	G	T	121260235	2	4	172	1	0	0	0	0	0	0	0	1	12208	987	35	5		5	POLQ	3	121260235	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	53850	121260235	76762195	393	93505											
FBXO40	51725	broad.mit.edu	37	chr3	121340411	121340412	+	Frame_Shift_Ins	INS	-	-	T													acctgctctgtggtgccaccINSttccacatgtgcaaagaggc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121340411_121340412insT	uc003eeg.2	+	3	345_346	c.135_136insT	c.(133-138)ACCTTCfs	p.T45fs		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	45_46					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		GTGGTGCCACCTTCCACATGTG	0.574													T	121340412	-	T	121340411	7	5	172	1	0	1	1	0	0	0	0	0	5749	668	24	0	141	0	FBXO40	3	121340411	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	80176	121340411	76682019	394	93506	454	2									
FBXO40	51725	broad.mit.edu	37	chr3	121340412	121340413	+	Frame_Shift_Ins	INS	-	-	T													cctgctctgtggtgccacctINStccacatgtgcaaagaggca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:121340411_121340412C>CT	uc003eeg.2	+	2	345_346	c.135_136C>CT	c.(133-138)accttcfs	p.T45fs		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	45				T -> A (in Ref. 1; AAF17085).	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)		GTGGTGCCACCTTCCACATGTG	0.574													T	121340413	-	T	121340412	7	5	172	1	0	1	1	0	0	0	0	0	5749	1609	56	0	142	0	FBXO40	3	121340412	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	121340412	76682018	395	93507	454	2									
KPNA1	3836	broad.mit.edu	37	chr3	122146494	122146494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccatttagggcaacctgTacaatcttagagtccatgac	8	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:122146494T>C	uc003efd.1	-	13	1356	c.1320A>G	c.(1318-1320)GTA>GTG	p.V440V	KPNA1_uc003efb.1_Silent_p.V239V|KPNA1_uc003efc.1_Silent_p.V239V|KPNA1_uc011bjr.1_Silent_p.V239V|KPNA1_uc010hrh.2_Silent_p.V239V|KPNA1_uc003efe.2_Silent_p.V440V	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	440	ARM 9.				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				0				GBM - Glioblastoma multiforme(114;0.0898)		GGGCAACCTGTACAATCTTAG	0.428													C	122146494	T	C	122146494	2	2	172	1	0	0	0	0	0	0	0	1	8429	1625	57	3		3	KPNA1	3	122146494	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	806082	122146494	75875936	396	93508											
ITGB5	3693	broad.mit.edu	37	chr3	124492710	124492710	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcagttacagttgtccccGatgtaacctgcatggcactt	10	11	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:124492710G>A	uc003eho.2	-	11	2040	c.1743C>T	c.(1741-1743)ATC>ATT	p.I581I	ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	581	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AGTTGTCCCCGATGTAACCTG	0.527													A	124492710	G	A	124492710	2	1	172	1	0	0	0	0	0	0	0	1	7898	1048	37	1		1	ITGB5	3	124492710	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2346216	124492710	73529720	397	93509											
CCDC37	348807	broad.mit.edu	37	chr3	126137587	126137587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacgagttcgtcagggagaAtgactgcagctccgtgcagg	15	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:126137587A>G	uc003eiu.1	+	7	719	c.620A>G	c.(619-621)AAT>AGT	p.N207S	CCDC37_uc010hsg.1_Missense_Mutation_p.N208S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	207										ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GTCAGGGAGAATGACTGCAGC	0.667													G	126137587	A	G	126137587	3	3	172	1	0	0	0	0	1	0	0	0	2809	101	4	3	642	3	CCDC37	3	126137587	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1644877	126137587	71884843	398	93510											
C3orf22	152065	broad.mit.edu	37	chr3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctggacagccctgccGccttgctggtctgggggcag	16	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:126268739G>A	uc003ejb.2	-	4	727	c.398C>T	c.(397-399)GCG>GTG	p.A133V		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	133											0				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627													A	126268739	G	A	126268739	3	1	172	1	0	0	0	0	1	0	0	0	2215	1087	38	1	31	1	C3orf22	3	126268739	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	131152	126268739	71753691	399	93511											
MCM2	4171	broad.mit.edu	37	chr3	127339714	127339714	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagttcagcgtcatgcgcagCatgcgcaaggtgggtgtgct	15	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:127339714C>G	uc003ejp.2	+	14	2496	c.2439C>G	c.(2437-2439)AGC>AGG	p.S813R	MCM2_uc011bkm.1_Missense_Mutation_p.S683R|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.S766R	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	813					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(1)	4						TCATGCGCAGCATGCGCAAGG	0.597													G	127339714	C	G	127339714	3	3	172	1	0	0	0	0	1	0	0	0	9386	709	25	5	2493	5	MCM2	3	127339714	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1070975	127339714	70682716	400	93512											
PIK3R4	30849	broad.mit.edu	37	chr3	130422668	130422668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgttcatcagagactctAattcgattcacagcagattt	8	8	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:130422668A>G	uc003enj.2	-	13	3578	c.2997T>C	c.(2995-2997)ATT>ATC	p.I999I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	999	WD 1.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						CAGAGACTCTAATTCGATTCA	0.423													G	130422668	A	G	130422668	2	3	172	1	0	0	0	0	0	0	0	1	11921	358	13	3		3	PIK3R4	3	130422668	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3082954	130422668	67599762	401	93513											
PIK3R4	30849	broad.mit.edu	37	chr3	130463961	130463961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaactttaaaaaaccgagtActccccaggcttttatcata	5	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:130463961A>G	uc003enj.2	-	2	683	c.102T>C	c.(100-102)AGT>AGC	p.S34S		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	34	ATP (By similarity).|Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AAAACCGAGTACTCCCCAGGC	0.438													G	130463961	A	G	130463961	2	3	172	1	0	0	0	0	0	0	0	1	11921	388	14	3		3	PIK3R4	3	130463961	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	41293	130463961	67558469	402	93514											
ATP2C1	27032	broad.mit.edu	37	chr3	130717188	130717188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacaatgaccttcacatgCtttgtgttttttgacatgtt	6	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:130717188C>T	uc003enl.2	+	26	2664	c.2442C>T	c.(2440-2442)TGC>TGT	p.C814C	ATP2C1_uc011blg.1_Silent_p.C848C|ATP2C1_uc011blh.1_Silent_p.C809C|ATP2C1_uc011bli.1_Silent_p.C848C|ATP2C1_uc003enk.2_Silent_p.C798C|ATP2C1_uc003enm.2_Silent_p.C814C|ATP2C1_uc003enn.2_Silent_p.C798C|ATP2C1_uc003eno.2_Silent_p.C814C|ATP2C1_uc003enp.2_Silent_p.C814C|ATP2C1_uc003enq.2_Silent_p.C814C|ATP2C1_uc003enr.2_Silent_p.C814C|ATP2C1_uc003ens.2_Silent_p.C814C|ATP2C1_uc003ent.2_Silent_p.C814C|ATP2C1_uc003enu.2_Silent_p.C492C	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	814	Helical; Name=8; (By similarity).				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|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CCTTCACATGCTTTGTGTTTT	0.388									Hailey-Hailey_disease				T	130717188	C	T	130717188	2	4	172	1	0	0	0	0	0	0	0	1	1143	805	28	2		2	ATP2C1	3	130717188	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	253227	130717188	67305242	403	93515											
ACPP	55	broad.mit.edu	37	chr3	132071668	132071668	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgtactttgagaagggGtaagtgactaagtgcttttc	12	4	0	2	rs144833647		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:132071668G>A	uc010htp.2	+	9	1058	c.968_splice	c.e9+1	p.G323_splice	ACPP_uc003eon.3_Splice_Site_p.G290_splice|ACPP_uc003eop.3_Splice_Site_p.G323_splice	NM_001099	NP_001090	P15309	PPAP_HUMAN	acid phosphatase, prostate short isoform							extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			ovary(1)	1						TTGAGAAGGGGTAAGTGACTA	0.428													A	132071668	G	A	132071668	5	1	172	1	0	0	0	0	0	0	1	0	167	1275	44	4	1003	4	ACPP	3	132071668	Splice_Site	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1354480	132071668	65950762	404	93516											
TF	7018	broad.mit.edu	37	chr3	133476714	133476714	+	Frame_Shift_Del	DEL	C	C	-													gcccacgggtttttaaaagtCccccccaggatggatgccaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:133476713_133476713TC>T	uc003epu.2	+	12	2699	c.971_971TC>T	c.(970-972)gtcfs	p.V324fs	TF_uc011blt.2_Frame_Shift_Del_p.V197fs|TF_uc003epw.2_Intron|TF_uc003epv.2_Frame_Shift_Del_p.V324fs	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	324	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGG	0.488													-	133476714	C	-	133476714	7	5	172	1	0	1	0	1	0	0	0	0	15782	842	30	0	1002	0	TF	3	133476714	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	1405046	133476714	64545716	405	93517											
MSL2	55167	broad.mit.edu	37	chr3	135871342	135871344	+	In_Frame_Del	DEL	AGA	AGA	-													ttaagcaaagccaaaatatcAgaagaacagtcaactgcttc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:135871342_135871344delAGA	uc003eqx.1	-	2	1112_1114	c.379_381delTCT	c.(379-381)TCTdel	p.S127del	MSL2_uc011bmb.1_In_Frame_Del_p.S53del	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	127					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						CCAAAATATCAGAAGAACAGTCA	0.384													-	135871344	AGA	-	135871342	7	5	172	1	0	1	0	1	0	0	0	0	9878	175	7	0	1356	0	MSL2	3	135871342	In_Frame_Del	DEL	AGA	TCGA-CG-4442-01A-01D-1158-08	2394628	135871342	62151088	406	93518											
STAG1	10274	broad.mit.edu	37	chr3	136240262	136240263	+	Splice_Site	INS	-	-	A													ggataatcaccactgtcctaINSaaaaacagaaaaagaacata							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:136240261_136240262T>TA	uc003era.1	-	7	764	c.472_splice	c.e7-1	p.D158_splice	STAG1_uc003erb.1_Splice_Site_p.D158_splice|STAG1_uc003erc.1_Splice_Site|STAG1_uc010hua.1_Splice_Site_p.D21_splice|STAG1_uc003ere.3_Splice_Site_p.D158_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	158					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						ACCACTGTCCTAAAAAACAGAA	0.361													A	136240263	-	A	136240262	8	5	172	1	0	1	1	0	0	0	1	0	15241	377	13	0		0	STAG1	3	136240262	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	368920	136240262	61782168	407	93519											
GRK7	131890	broad.mit.edu	37	chr3	141497368	141497368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacagtgcccacgttccGcaaggcggcaaccttcctag	10	16	0	0	rs34429284	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:141497368G>A	uc011bnd.1	+	1	326	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	81	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CCCACGTTCCGCAAGGCGGCA	0.647													A	141497368	G	A	141497368	3	1	172	1	0	0	0	0	1	0	0	0	6794	1087	38	1	244	1	GRK7	3	141497368	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5257106	141497368	56525062	408	93520											
CPA3	1359	broad.mit.edu	37	chr3	148597629	148597629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacggattgtggcattcacGcacgagaatgggtctcccca	11	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:148597629G>A	uc003ewm.2	+	6	581	c.529G>A	c.(529-531)GCA>ACA	p.A177T		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	177					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGCATTCACGCACGAGAATG	0.413													A	148597629	G	A	148597629	3	1	172	1	0	0	0	0	1	0	0	0	3791	1087	38	1	551	1	CPA3	3	148597629	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	7100261	148597629	49424801	409	93521											
FAM194A	131831	broad.mit.edu	37	chr3	150421606	150421606	+	Missense_Mutation	SNP	T	T	A													cctcttcctcctcctcctccTcctctaactcctcctctgac					rs140978408	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:150421606T>A	uc003eyg.2	-	1	137	c.80A>T	c.(79-81)GAG>GTG	p.E27V	FAM194A_uc003eyh.2_5'UTR	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	27	Glu-rich.									skin(2)|ovary(1)	3						ctcctcctcctcctctaactc	0.274													A	150421606	T	A	150421606	3	1	172	1	0	0	0	0	1	0	0	0	5526	1551	54	5	1967	5	FAM194A	3	150421606	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1823977	150421606	47600824	410	93522	455	2									
FAM194A	131831	broad.mit.edu	37	chr3	150421612	150421613	+	Missense_Mutation	DNP	AA	AA	TC													cctcctcctcctcctcctctAactcctcctctgactccttc					rs144754399		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:150421612_150421613AA>TC	uc003eyg.2	-	1	130_131	c.73_74TT>GA	c.(73-75)TTA>GAA	p.L25E	FAM194A_uc003eyh.2_5'UTR	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	25	Glu-rich.									skin(2)|ovary(1)	3						ctcctcctctaactcctcctcT	0.297													TC	150421613	AA	TC	150421612	3	4	172	1	0	0	0	0	1	0	0	0	5526	372	13	5	1973	5	FAM194A	3	150421612	Missense_Mutation	DNP	AA	TCGA-CG-4442-01A-01D-1158-08	6	150421612	47600818	411	93523	455	2									
SIAH2	6478	broad.mit.edu	37	chr3	150460129	150460129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgtaggcaaagttctcGgcttgcttgcgggtgccaat	13	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:150460129G>A	uc003eyi.2	-	2	1401	c.774C>T	c.(772-774)GCC>GCT	p.A258A		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	258	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			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAAGTTCTCGGCTTGCTTGC	0.562													A	150460129	G	A	150460129	2	1	172	1	0	0	0	0	0	0	0	1	14300	1103	39	1		1	SIAH2	3	150460129	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	38517	150460129	47562301	412	93524											
P2RY12	64805	broad.mit.edu	37	chr3	151055936	151055936	+	Frame_Shift_Del	DEL	T	T	-													tgaaaactttgacgttcaccTttttcctggggactttacct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:151055936delT	uc003eyw.1	-	2	914	c.698delA	c.(697-699)AAGfs	p.K233fs	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Frame_Shift_Del_p.K233fs	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	233	Cytoplasmic (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GACGTTCACCTTTTTCCTGGG	0.373													-	151055936	T	-	151055936	7	5	172	1	0	1	0	1	0	0	0	0	11349	1609	56	0	334	0	P2RY12	3	151055936	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	595807	151055936	46966494	413	93525											
MED12L	116931	broad.mit.edu	37	chr3	151129094	151129094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggctatacaatgtatgGgacacagatgcctttgcagc	11	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:151129094G>A	uc003eyp.2	+	39	5872	c.5834G>A	c.(5833-5835)GGG>GAG	p.G1945E	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1945	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGTATGGGACACAGATG	0.512													A	151129094	G	A	151129094	3	1	172	1	0	0	0	0	1	0	0	0	9429	1232	43	4	5988	4	MED12L	3	151129094	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	73158	151129094	46893336	414	93526											
MME	4311	broad.mit.edu	37	chr3	154861271	154861271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaacagcaacttggagaCgttgtgcaaactatgtcaat	9	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:154861271C>T	uc010hvr.1	+	13	1439	c.1228C>T	c.(1228-1230)CGT>TGT	p.R410C	MME_uc003fab.1_Missense_Mutation_p.R410C|MME_uc003fac.1_Missense_Mutation_p.R410C|MME_uc003fad.1_Missense_Mutation_p.R410C|MME_uc003fae.1_Missense_Mutation_p.R410C	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	410	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AACTTGGAGACGTTGTGCAAA	0.428													T	154861271	C	T	154861271	3	4	172	1	0	0	0	0	1	0	0	0	9645	536	19	1	1274	1	MME	3	154861271	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3732177	154861271	43161159	415	93527											
NMD3	51068	broad.mit.edu	37	chr3	160964183	160964183	+	Frame_Shift_Del	DEL	T	T	-													atgaatacagataaacagtaTttttgtcgtactcatttggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:160964183delT	uc003feb.1	+	12	1196	c.1077delT	c.(1075-1077)TATfs	p.Y359fs	NMD3_uc003fec.2_Frame_Shift_Del_p.Y359fs|NMD3_uc003fed.1_Frame_Shift_Del_p.Y359fs|NMD3_uc010hwh.2_Frame_Shift_Del_p.Y179fs	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	359					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ATAAACAGTATTTTTGTCGTA	0.353													-	160964183	T	-	160964183	7	5	172	1	0	1	0	1	0	0	0	0	10488	1500	52	0	1119	0	NMD3	3	160964183	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	6102912	160964183	37058247	416	93528											
ZBBX	79740	broad.mit.edu	37	chr3	167045770	167045770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtttcttgttgtcatcAtgatttccggttctccattg	7	9	5	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:167045770A>G	uc003fep.2	-	11	1145	c.822T>C	c.(820-822)CAT>CAC	p.H274H	ZBBX_uc011bpc.1_Silent_p.H274H|ZBBX_uc003feq.2_Silent_p.H245H	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	274						intracellular	zinc ion binding			ovary(2)	2						TGTTGTCATCATGATTTCCGG	0.303													G	167045770	A	G	167045770	2	3	172	1	0	0	0	0	0	0	0	1	17513	214	8	3		3	ZBBX	3	167045770	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6081587	167045770	30976660	417	93529											
PRKCI	5584	broad.mit.edu	37	chr3	170013723	170013723	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaaaacaaattcgcaTaccacgttctctgtctgtaa	6	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:170013723T>A	uc003fgs.2	+	15	1680	c.1442T>A	c.(1441-1443)ATA>AAA	p.I481K	PRKCI_uc003fgt.2_Missense_Mutation_p.I36K	NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	481	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAAATTCGCATACCACGTTCT	0.234													A	170013723	T	A	170013723	3	1	172	1	0	0	0	0	1	0	0	0	12514	1406	49	5	1500	5	PRKCI	3	170013723	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2967953	170013723	28008707	418	93530											
FNDC3B	64778	broad.mit.edu	37	chr3	172061960	172061960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgtagcctcggaagtgtAccatggcccagagctggagt	14	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:172061960A>G	uc003fhy.2	+	19	2334	c.2162A>G	c.(2161-2163)TAC>TGC	p.Y721C	FNDC3B_uc003fhz.3_Missense_Mutation_p.Y721C	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	721	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	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)		TCGGAAGTGTACCATGGCCCA	0.562													G	172061960	A	G	172061960	3	3	172	1	0	0	0	0	1	0	0	0	5970	391	14	3	2232	3	FNDC3B	3	172061960	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2048237	172061960	25960470	419	93531											
GHSR	2693	broad.mit.edu	37	chr3	172165646	172165646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggtcggtgccgttctcGtgctccaccccgactagcac	11	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:172165646G>A	uc003fib.1	-	1	558	c.558C>T	c.(556-558)CAC>CAT	p.H186H	GHSR_uc011bpv.1_Silent_p.H186H	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	186	Extracellular (Potential).				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			lung(3)|ovary(1)|central_nervous_system(1)	5	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)			TGCCGTTCTCGTGCTCCACCC	0.647													A	172165646	G	A	172165646	2	1	172	1	0	0	0	0	0	0	0	1	6375	1136	40	1		1	GHSR	3	172165646	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	103686	172165646	25856784	420	93532											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	172	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6786439	178952085	19070345	421	93533											
GNB4	59345	broad.mit.edu	37	chr3	179123026	179123026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacattacaattaaagtcatCgtaaccagccaacaagagac	5	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:179123026C>T	uc003fjv.3	-	9	1148	c.868G>A	c.(868-870)GAT>AAT	p.D290N	GNB4_uc003fju.3_Intron	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	290	WD 6.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	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)			TTAAAGTCATCGTAACCAGCC	0.398													T	179123026	C	T	179123026	3	4	172	1	0	0	0	0	1	0	0	0	6520	884	31	1	162	1	GNB4	3	179123026	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	170941	179123026	18899404	422	93534											
USP13	8975	broad.mit.edu	37	chr3	179472611	179472611	+	Frame_Shift_Del	DEL	C	C	-													gaagaacttccagacatcagCccccccatagtcattcctga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:179472611delC	uc003fkh.2	+	15	1971	c.1890delC	c.(1888-1890)AGCfs	p.S630fs	USP13_uc003fkf.2_Frame_Shift_Del_p.A558fs	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	630					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	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)			CAGACATCAGCCCCCCCATAG	0.483													-	179472611	C	-	179472611	7	5	172	1	0	1	0	1	0	0	0	0	17041	738	26	0	1948	0	USP13	3	179472611	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	349585	179472611	18549819	423	93535											
ATP11B	23200	broad.mit.edu	37	chr3	182583408	182583408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttatcttatcttagtagTttatcccatcttaacaactt	2	9	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:182583408T>C	uc003flb.2	+	13	1622	c.1365T>C	c.(1363-1365)AGT>AGC	p.S455S	ATP11B_uc003flc.2_Silent_p.S39S	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	455	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3	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)			ATCTTAGTAGTTTATCCCATC	0.338													C	182583408	T	C	182583408	2	2	172	1	0	0	0	0	0	0	0	1	1120	1722	60	3		3	ATP11B	3	182583408	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3110797	182583408	15439022	424	93536											
EIF4G1	1981	broad.mit.edu	37	chr3	184035509	184035509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccttccccaccaggggcGttccacatacgttgtcccga	8	19	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184035509G>A	uc003fnp.2	+	6	527	c.329G>A	c.(328-330)CGT>CAT	p.R110H	EIF4G1_uc003fno.1_Missense_Mutation_p.R51H|EIF4G1_uc010hxw.1_Intron|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.R23H|EIF4G1_uc003fnr.2_5'UTR|EIF4G1_uc010hxx.2_Missense_Mutation_p.R117H|EIF4G1_uc003fns.2_Missense_Mutation_p.R70H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R117H|EIF4G1_uc010hxz.1_Missense_Mutation_p.R23H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R110H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R110H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R117H|EIF4G1_uc003fnx.2_5'Flank|EIF4G1_uc003fny.3_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	110					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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCAGGGGCGTTCCACATAC	0.542													A	184035509	G	A	184035509	3	1	172	1	0	0	0	0	1	0	0	0	5036	1145	40	1	343	1	EIF4G1	3	184035509	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1452101	184035509	13986921	425	93537											
EIF4G1	1981	broad.mit.edu	37	chr3	184042123	184042123	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaaaaagagatggaTgaagctgctacggtgagaga	14	4	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184042123T>C	uc003fnp.2	+	17	2805	c.2607T>C	c.(2605-2607)GAT>GAC	p.D869D	EIF4G1_uc003fno.1_Silent_p.D810D|EIF4G1_uc010hxw.1_Silent_p.D705D|EIF4G1_uc003fnt.2_Silent_p.D580D|EIF4G1_uc003fnq.2_Silent_p.D782D|EIF4G1_uc003fnr.2_Silent_p.D705D|EIF4G1_uc010hxx.2_Silent_p.D876D|EIF4G1_uc003fns.2_Silent_p.D829D|EIF4G1_uc010hxy.2_Silent_p.D876D|EIF4G1_uc003fnv.3_Silent_p.D870D|EIF4G1_uc003fnu.3_Silent_p.D869D|EIF4G1_uc003fnw.2_Silent_p.D876D|EIF4G1_uc003fnx.2_Silent_p.D674D|EIF4G1_uc003fny.3_Silent_p.D673D|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	869	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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGAGATGGATGAAGCTGCTA	0.438													C	184042123	T	C	184042123	2	2	172	1	0	0	0	0	0	0	0	1	5036	1461	51	3		3	EIF4G1	3	184042123	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6614	184042123	13980307	426	93538											
CLCN2	1181	broad.mit.edu	37	chr3	184071569	184071569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatgatgtcctccacaCgcacccggtactgcctgggg	11	16	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184071569C>T	uc003foi.2	-	16	1860	c.1736G>A	c.(1735-1737)CGT>CAT	p.R579H	CLCN2_uc003foh.2_Missense_Mutation_p.R103H|CLCN2_uc010hya.1_Missense_Mutation_p.R562H|CLCN2_uc011brl.1_Missense_Mutation_p.R579H|CLCN2_uc011brm.1_Missense_Mutation_p.R535H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	579	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	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)	GTCCTCCACACGCACCCGGTA	0.642													T	184071569	C	T	184071569	3	4	172	1	0	0	0	0	1	0	0	0	3463	536	19	1	996	1	CLCN2	3	184071569	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	29446	184071569	13950861	427	93539											
CLCN2	1181	broad.mit.edu	37	chr3	184073510	184073510	+	Frame_Shift_Del	DEL	G	G	-													ccatgaactgtccaaagccaGgggggaaggtcagcgtggag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:184073509_184073509AG>A	uc003foi.3	-	10	1267	c.1143_1143CT>T	c.(1141-1143)cctfs	p.P381fs	CLCN2_uc003foh.3_5'UTR|CLCN2_uc010hya.2_Frame_Shift_Del_p.P381fs|CLCN2_uc011brl.2_Frame_Shift_Del_p.P381fs|CLCN2_uc011brm.2_Frame_Shift_Del_p.P337fs|CLCN2_uc011brn.1_Frame_Shift_Del_p.P381fs	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	381						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)	GTCCAAAGCCAGGGGGGAAGG	0.572													-	184073510	G	-	184073510	7	5	172	1	0	1	0	1	0	0	0	0	3463	1000	35	0	1610	0	CLCN2	3	184073510	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	1941	184073510	13948920	428	93540											
OPA1	4976	broad.mit.edu	37	chr3	193334982	193334982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagaaaattagaaaagCccttcctagttcagaagacc	7	10	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:193334982C>T	uc003ftm.2	+	4	698	c.464C>T	c.(463-465)GCC>GTC	p.A155V	OPA1_uc003ftg.2_Missense_Mutation_p.A155V|OPA1_uc003fth.2_Intron|OPA1_uc003fti.2_Missense_Mutation_p.A155V|OPA1_uc003ftj.2_Missense_Mutation_p.A155V|OPA1_uc003ftk.2_Intron|OPA1_uc003ftl.2_Intron|OPA1_uc003ftn.2_Intron	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	155	Mitochondrial intermembrane (By similarity).				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				0	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)		ATTAGAAAAGCCCTTCCTAGT	0.269													T	193334982	C	T	193334982	3	4	172	1	0	0	0	0	1	0	0	0	10871	739	26	2	478	2	OPA1	3	193334982	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9261472	193334982	4687448	429	93541											
CPN2	1370	broad.mit.edu	37	chr3	194062086	194062086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaagcccaagtggtccCgggtgacgggacacaccagc	14	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:194062086C>T	uc003fts.2	-	2	1436	c.1346G>A	c.(1345-1347)CGG>CAG	p.R449Q		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	449					protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	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)		CAAGTGGTCCCGGGTGACGGG	0.652													T	194062086	C	T	194062086	3	4	172	1	0	0	0	0	1	0	0	0	3810	652	23	1	295	1	CPN2	3	194062086	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	727104	194062086	3960344	430	93542											
ATP13A3	79572	broad.mit.edu	37	chr3	194169309	194169309	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atataattcatctcctattcCtttcacatccactgaaggat	3	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:194169309C>A	uc003fty.3	-	11	1429	c.1027G>T	c.(1027-1029)GGA>TGA	p.G343*	ATP13A3_uc003ftz.1_Nonsense_Mutation_p.G49*	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	343					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	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)		TCTCCTATTCCTTTCACATCC	0.338													A	194169309	C	A	194169309	4	1	172	1	0	0	0	0	0	1	0	0	1125	690	24	5	2741	5	ATP13A3	3	194169309	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	107223	194169309	3853121	431	93543											
RNF168	165918	broad.mit.edu	37	chr3	196199224	196199224	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatccttgactgcttcaaaGgaagattcttggttttttct	9	7	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:196199224G>T	uc003fwq.2	-	6	1720	c.1182C>A	c.(1180-1182)TCC>TCA	p.S394S	RNF168_uc010iah.2_Silent_p.S227S|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	394					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)		CTGCTTCAAAGGAAGATTCTT	0.398													T	196199224	G	T	196199224	2	4	172	1	0	0	0	0	0	0	0	1	13459	987	35	5		5	RNF168	3	196199224	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2029915	196199224	1823206	432	93544											
MFI2	4241	broad.mit.edu	37	chr3	196748318	196748318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttcacaaaagccacGtcccctgccccttccgccag	7	19	1	0	rs148913417	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr3:196748318G>A	uc003fxk.3	-	6	782	c.669C>T	c.(667-669)GAC>GAT	p.D223D	MFI2_uc003fxl.3_Silent_p.D223D|MFI2_uc011bua.1_Missense_Mutation_p.T196M	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	223	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		CAAAAGCCACGTCCCCTGCCC	0.672													A	196748318	G	A	196748318	2	1	172	1	0	0	0	0	0	0	0	1	9522	1136	40	1		1	MFI2	3	196748318	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	549094	196748318	1274112	433	93545											
ZNF718	255403	broad.mit.edu	37	chr4	155138	155138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaaacataagagaattcaTgccagagagaaattctacaa	6	7	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:155138T>C	uc003fzt.3	+	8	796	c.663T>C	c.(661-663)CAT>CAC	p.H221H	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.M1T	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	221	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AGAGAATTCATGCCAGAGAGA	0.383													C	155138	T	C	155138	2	2	172	1	0	0	0	0	0	0	0	1	18117	1461	51	3		3	ZNF718	4	155138	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08		155138	190999138	434	93546											
GAK	2580	broad.mit.edu	37	chr4	845556	845556	+	Frame_Shift_Del	DEL	C	C	-													accaaagctgggtgcgcggaCcccccgctcctcccgcgccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:845555_845555AC>A	uc003gbm.4	-	24	3690	c.3491_3491GT>T	c.(3490-3492)gtcfs	p.V1164fs	GAK_uc003gbn.4_Frame_Shift_Del_p.V1085fs|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Frame_Shift_Del_p.V1017fs	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1164					cell cycle	Golgi apparatus|focal adhesion|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)		GGGTGCGCGGACCCCCCGCTC	0.597													-	845556	C	-	845556	7	5	172	1	0	1	0	1	0	0	0	0	6195	507	18	0	461	0	GAK	4	845556	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	690418	845556	190308720	435	93547											
TMEM175	84286	broad.mit.edu	37	chr4	951976	951976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcgctgctgcaccaggcgGagacgctgcagccctcggtg	16	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:951976G>A	uc003gbq.2	+	11	1305	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	TMEM175_uc003gbr.2_Missense_Mutation_p.E321K|TMEM175_uc003gbu.2_Missense_Mutation_p.E321K|TMEM175_uc003gbs.2_Missense_Mutation_p.E286K|TMEM175_uc003gbt.2_Missense_Mutation_p.E286K|TMEM175_uc003gbv.2_Missense_Mutation_p.E286K|TMEM175_uc010ibm.2_Missense_Mutation_p.E219K	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	403						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCACCAGGCGGAGACGCTGCA	0.667													A	951976	G	A	951976	3	1	172	1	0	0	0	0	1	0	0	0	16088	1175	41	4	1245	4	TMEM175	4	951976	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	106420	951976	190202300	436	93548											
TMEM175	84286	broad.mit.edu	37	chr4	952157	952157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccttcctgttgctgcGcctgctcgtgggcctggccc	13	17	0	0	rs139453980		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:952157G>A	uc003gbq.2	+	11	1486	c.1388G>A	c.(1387-1389)CGC>CAC	p.R463H	TMEM175_uc003gbr.2_Missense_Mutation_p.R381H|TMEM175_uc003gbu.2_Missense_Mutation_p.R381H|TMEM175_uc003gbs.2_Missense_Mutation_p.R346H|TMEM175_uc003gbt.2_Missense_Mutation_p.R346H|TMEM175_uc003gbv.2_Missense_Mutation_p.R346H|TMEM175_uc010ibm.2_Missense_Mutation_p.R279H	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	463	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGTTGCTGCGCCTGCTCGTG	0.721													A	952157	G	A	952157	3	1	172	1	0	0	0	0	1	0	0	0	16088	1087	38	1	1426	1	TMEM175	4	952157	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	181	952157	190202119	437	93549											
SLC26A1	10861	broad.mit.edu	37	chr4	982997	982998	+	Frame_Shift_Ins	INS	-	-	C													accgacccccgtctctgagcINSccccctccttcctcctggca					rs113951266	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:982996_982997G>GC	uc003gcb.3	-	3	2108_2109	c.1730_1731C>GC	c.(1729-1731)ggcfs	p.G577fs	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Frame_Shift_Ins_p.G577fs	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	577	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGTCTCTGAGCCCCCCTCCTT	0.688													C	982998	-	C	982997	7	5	172	1	0	1	1	0	0	0	0	0	14514	739	26	0	482	0	SLC26A1	4	982997	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	30840	982997	190171279	438	93550											
IDUA	3425	broad.mit.edu	37	chr4	995261	995261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggctcctctgcaggtaggTacggactggcgcatgtttcc	13	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:995261T>C	uc003gby.2	+	5	587	c.499T>C	c.(499-501)TAC>CAC	p.Y167H	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.Y120H	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	167					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGCAGGTAGGTACGGACTGGC	0.582													C	995261	T	C	995261	3	2	172	1	0	0	0	0	1	0	0	0	7504	1638	57	3	517	3	IDUA	4	995261	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	12264	995261	190159015	439	93551											
CRIPAK	285464	broad.mit.edu	37	chr4	1388791	1388791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcacacgtgccgacgtGgagtgcccgcctgctcacac	11	17	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:1388791G>A	uc003gdf.2	+	1	3452	c.492G>A	c.(490-492)GTG>GTA	p.V164V		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	164					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCGACGTGGAGTGCCCGC	0.687													A	1388791	G	A	1388791	2	1	172	1	0	0	0	0	0	0	0	1	3877	1335	47	4		4	CRIPAK	4	1388791	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	393530	1388791	189765485	440	93552											
WHSC2	7469	broad.mit.edu	37	chr4	1993312	1993312	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcctgaacgttgggaTtctgctcctccagctccagg	9	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:1993312T>G	uc003gem.2	-	2	614	c.374A>C	c.(373-375)AAT>ACT	p.N125T	WHSC2_uc003gel.2_Missense_Mutation_p.N39T|WHSC2_uc003gen.2_Intron	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	114					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			AACGTTGGGATTCTGCTCCTC	0.502													G	1993312	T	G	1993312	3	3	172	1	0	0	0	0	1	0	0	0	17361	1493	52	5	1285	5	WHSC2	4	1993312	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	604521	1993312	189160964	441	93553											
POLN	353497	broad.mit.edu	37	chr4	2083454	2083454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggggtctccttctgcccatGatggacaccacacagcctga	10	14	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2083454G>A	uc003ger.2	-	20	2214	c.2214C>T	c.(2212-2214)ATC>ATT	p.I738I	POLN_uc010icg.1_Silent_p.I186I|POLN_uc010ich.1_Silent_p.I270I	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	738					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTCTGCCCATGATGGACACCA	0.587								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	2083454	G	A	2083454	2	1	172	1	0	0	0	0	0	0	0	1	12207	1280	45	4		4	POLN	4	2083454	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	90142	2083454	189070822	442	93554											
POLN	353497	broad.mit.edu	37	chr4	2200403	2200403	+	Frame_Shift_Del	DEL	T	T	-													tggccaccctctgcttggcgTtttactaacaccacaattcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2200403delT	uc003ger.2	-	4	756	c.756delA	c.(754-756)AAAfs	p.K252fs	POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Frame_Shift_Del_p.K252fs	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	252					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTGCTTGGCGTTTTACTAACA	0.458								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					-	2200403	T	-	2200403	7	5	172	1	0	1	0	1	0	0	0	0	12207	1722	60	0	2030	0	POLN	4	2200403	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	116949	2200403	188953873	443	93555											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661594	+	Frame_Shift_Ins	INS	-	-	C													tcacgtgtggtatcatggacINSccccccgtcactgatgacat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2661592_2661593A>AC	uc010ick.3	+	8	1284_1285	c.1283_1284A>AC	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										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						GGTATCATGGACCCCCCCGTCA	0.525													C	2661594	-	C	2661593	7	5	172	1	0	1	1	0	0	0	0	0	5524	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	461190	2661593	188492683	444	93556											
SH3BP2	6452	broad.mit.edu	37	chr4	2831297	2831297	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccttctctgacatgcccCgggcccactcctttacctcc	6	20	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:2831297C>A	uc003gfi.3	+	8	784	c.664C>A	c.(664-666)CGG>AGG	p.R222R	SH3BP2_uc011bvp.1_Silent_p.R250R|SH3BP2_uc003gfj.3_Silent_p.R279R|SH3BP2_uc003gfk.3_Silent_p.R222R|SH3BP2_uc003gfl.3_Silent_p.R155R|SH3BP2_uc003gfm.3_Silent_p.R197R	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	222					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGACATGCCCCGGGCCCACTC	0.667									Cherubism				A	2831297	C	A	2831297	2	1	172	1	0	0	0	0	0	0	0	1	14245	643	23	5		5	SH3BP2	4	2831297	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	169704	2831297	188322979	445	93557											
RGS12	6002	broad.mit.edu	37	chr4	3318198	3318198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgctgaaggcgtcggcCgcttcgaatcctgttccagt	12	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3318198C>T	uc003ggw.2	+	2	1205	c.301C>T	c.(301-303)CGC>TGC	p.R101C	RGS12_uc003ggu.2_Missense_Mutation_p.R101C|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R101C|RGS12_uc003ggx.1_Missense_Mutation_p.R101C	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	101						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCGTCGGCCGCTTCGAATC	0.458													T	3318198	C	T	3318198	3	4	172	1	0	0	0	0	1	0	0	0	13295	652	23	1	303	1	RGS12	4	3318198	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	486901	3318198	187836078	446	93558											
RGS12	6002	broad.mit.edu	37	chr4	3425305	3425305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccaccaagcccgtcacGgaggtgctgcggcccgtggt	14	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3425305G>A	uc003ggw.2	+	13	4075	c.3171G>A	c.(3169-3171)ACG>ACA	p.T1057T	RGS12_uc003ggv.2_Silent_p.T1057T|RGS12_uc003ggy.1_Silent_p.T455T|RGS12_uc003ggz.2_Silent_p.T409T|RGS12_uc010icu.1_Silent_p.T256T|RGS12_uc011bvs.1_Silent_p.T399T|RGS12_uc003gha.2_Silent_p.T399T|RGS12_uc010icv.2_Silent_p.T256T|RGS12_uc003ghb.2_Silent_p.T256T	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1057	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCGTCACGGAGGTGCTGC	0.622													A	3425305	G	A	3425305	2	1	172	1	0	0	0	0	0	0	0	1	13295	1103	39	1		1	RGS12	4	3425305	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	107107	3425305	187728971	447	93559											
HGFAC	3083	broad.mit.edu	37	chr4	3444812	3444812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccctgcaggttccccTtccgctacgggggccgcatg	15	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3444812T>C	uc003ghc.2	+	3	337	c.334T>C	c.(334-336)TTC>CTC	p.F112L	HGFAC_uc010icw.2_Missense_Mutation_p.F112L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	112	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGTTCCCCTTCCGCTACGG	0.716													C	3444812	T	C	3444812	3	2	172	1	0	0	0	0	1	0	0	0	7086	1609	56	3	344	3	HGFAC	4	3444812	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	19507	3444812	187709464	448	93560											
DOK7	285489	broad.mit.edu	37	chr4	3494914	3494914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaccaggtgcccacctccCtgcgggcccactatgacaca	9	17	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3494914C>A	uc003ghd.2	+	7	1271	c.1201C>A	c.(1201-1203)CTG>ATG	p.L401M	DOK7_uc003ghe.2_Missense_Mutation_p.L263M|DOK7_uc003ghf.2_Silent_p.P142P|DOK7_uc003ghg.1_Missense_Mutation_p.L91M	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	401					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCCACCTCCCTGCGGGCCCA	0.697													A	3494914	C	A	3494914	3	1	172	1	0	0	0	0	1	0	0	0	4702	680	24	5	1227	5	DOK7	4	3494914	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	50102	3494914	187659362	449	93561											
DOK7	285489	broad.mit.edu	37	chr4	3494970	3494970	+	Frame_Shift_Del	DEL	C	C	-													ctggctcctagagaccacagCcccccctcacagggcagccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:3494970delC	uc003ghd.2	+	7	1327	c.1257delC	c.(1255-1257)AGCfs	p.S419fs	DOK7_uc003ghe.2_Frame_Shift_Del_p.S281fs|DOK7_uc003ghf.2_Frame_Shift_Del_p.A161fs|DOK7_uc003ghg.1_Frame_Shift_Del_p.S109fs	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	419					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAGACCACAGCCCCCCCTCAC	0.711													-	3494970	C	-	3494970	7	5	172	1	0	1	0	1	0	0	0	0	4702	738	26	0	1283	0	DOK7	4	3494970	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	56	3494970	187659306	450	93562											
TMEM128	85013	broad.mit.edu	37	chr4	4239591	4239591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgataaacatgacaAcccccataaactgggtaaac	9	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:4239591A>G	uc003ghr.1	-	4	500	c.470T>C	c.(469-471)GTT>GCT	p.V157A	TMEM128_uc003ghq.1_Missense_Mutation_p.V133A|TMEM128_uc003ghs.2_3'UTR|TMEM128_uc011bvv.1_Missense_Mutation_p.V157A|TMEM128_uc011bvw.1_Intron	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	transmembrane protein 128	157	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AAACATGACAACCCCCATAAA	0.363													G	4239591	A	G	4239591	3	3	172	1	0	0	0	0	1	0	0	0	16038	43	2	3	31	3	TMEM128	4	4239591	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	744621	4239591	186914685	451	93563											
CYTL1	54360	broad.mit.edu	37	chr4	5021035	5021035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccgagggctccgagacCtgcaggaggttgaagtcgcg	15	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:5021035C>A	uc003gig.2	-	1	163	c.138G>T	c.(136-138)CAG>CAT	p.Q46H		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	cytokine-like 1 precursor	46					signal transduction	extracellular space|soluble fraction	receptor binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCTCCGAGACCTGCAGGAGGT	0.647													A	5021035	C	A	5021035	3	1	172	1	0	0	0	0	1	0	0	0	4208	680	24	5	288	5	CYTL1	4	5021035	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	781444	5021035	186133241	452	93564											
MAN2B2	23324	broad.mit.edu	37	chr4	6621751	6621751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgctggagctggaggaCggggcctggccgccacagag	18	13	0	1	rs149521690	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:6621751C>T	uc003gjf.1	+	18	2948	c.2912C>T	c.(2911-2913)ACG>ATG	p.T971M	MAN2B2_uc003gje.1_3'UTR|MAN2B2_uc011bwf.1_Missense_Mutation_p.T920M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	971					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						AGCTGGAGGACGGGGCCTGGC	0.677													T	6621751	C	T	6621751	3	4	172	1	0	0	0	0	1	0	0	0	9217	536	19	1	2982	1	MAN2B2	4	6621751	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1600716	6621751	184532525	453	93565											
ABLIM2	84448	broad.mit.edu	37	chr4	7985021	7985021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccggtccacgtctttgggCagtttcacgcgaattcggtt	12	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:7985021C>T	uc003gko.2	-	19	1835	c.1692G>A	c.(1690-1692)CTG>CTA	p.L564L	ABLIM2_uc003gkk.2_Silent_p.L189L|ABLIM2_uc003gkl.2_Silent_p.L292L|ABLIM2_uc003gkj.3_Silent_p.L598L|ABLIM2_uc003gkm.3_Silent_p.L512L|ABLIM2_uc003gkp.2_Silent_p.L484L|ABLIM2_uc003gkq.2_Silent_p.L525L|ABLIM2_uc003gkr.2_Silent_p.L474L|ABLIM2_uc003gki.2_RNA	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	564	HP.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CGTCTTTGGGCAGTTTCACGC	0.587													T	7985021	C	T	7985021	2	4	172	1	0	0	0	0	0	0	0	1	95	697	25	2		2	ABLIM2	4	7985021	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1363270	7985021	183169255	454	93566											
DRD5	1816	broad.mit.edu	37	chr4	9783796	9783796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaccgcctgcctgctgaCcctactcatcatctggaccc	8	18	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:9783796C>T	uc003gmb.3	+	1	539	c.143C>T	c.(142-144)ACC>ATC	p.T48I		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	48	Helical; Name=1; (Potential).				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				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGCCTGCTGACCCTACTCATC	0.677													T	9783796	C	T	9783796	3	4	172	1	0	0	0	0	1	0	0	0	4760	507	18	4	145	4	DRD5	4	9783796	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1798775	9783796	181370480	455	93567											
BOD1L	259282	broad.mit.edu	37	chr4	13605418	13605418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatctgatttattttcgtCcttcttttttatgtctttac	4	8	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:13605418C>T	uc003gmz.1	-	10	3223	c.3106G>A	c.(3106-3108)GAC>AAC	p.D1036N	BOD1L_uc010idr.1_Missense_Mutation_p.D373N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1036	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						TTATTTTCGTCCTTCTTTTTT	0.378													T	13605418	C	T	13605418	3	4	172	1	0	0	0	0	1	0	0	0	1483	855	30	4	6117	4	BOD1L	4	13605418	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3821622	13605418	177548858	456	93568											
CPEB2	132864	broad.mit.edu	37	chr4	15055827	15055827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagcagaaagcaagtcctAttttccaccaaaaggtaagg	8	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:15055827A>G	uc003gni.1	+	7	1199	c.1112A>G	c.(1111-1113)TAT>TGT	p.Y371C	CPEB2_uc003gnj.1_Missense_Mutation_p.Y341C|CPEB2_uc003gnk.1_Missense_Mutation_p.Y379C|CPEB2_uc003gnl.1_Missense_Mutation_p.Y352C|CPEB2_uc003gnm.1_Missense_Mutation_p.Y349C|CPEB2_uc003gnn.1_Missense_Mutation_p.Y344C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	371	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						AGCAAGTCCTATTTTCCACCA	0.343													G	15055827	A	G	15055827	3	3	172	1	0	0	0	0	1	0	0	0	3801	449	16	3	2486	3	CPEB2	4	15055827	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1450409	15055827	176098449	457	93569											
TAPT1	202018	broad.mit.edu	37	chr4	16165090	16165090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttgtcacaagtaatggTatgatattttccttttgatg	8	5	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:16165090T>C	uc010ied.1	-	14	1626	c.1545A>G	c.(1543-1545)ATA>ATG	p.I515M	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Missense_Mutation_p.I404M	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	515						integral to membrane	growth hormone-releasing hormone receptor activity				0						CAAGTAATGGTATGATATTTT	0.378													C	16165090	T	C	16165090	3	2	172	1	0	0	0	0	1	0	0	0	15551	1628	57	3	162	3	TAPT1	4	16165090	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1109263	16165090	174989186	458	93570											
QDPR	5860	broad.mit.edu	37	chr4	17513588	17513588	+	Frame_Shift_Del	DEL	A	A	-													attacccagttgcgggcccgAaaagcctgcacgcatcgaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:17513587_17513587GA>G	uc003gpd.3	-	0	271	c.91_91TC>C	c.(91-93)cggfs	p.R31fs	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Frame_Shift_Del_p.R31fs	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	31					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	p.R31R(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TTGCGGGCCCGAAAAGCCTGC	0.731													-	17513588	A	-	17513588	7	5	172	1	0	1	0	1	0	0	0	0	12872	243	9	0	672	0	QDPR	4	17513588	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1348498	17513588	173640688	459	93571											
SLIT2	9353	broad.mit.edu	37	chr4	20490474	20490474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaacctgtattgtgactGccacctggcctggctctccg	9	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:20490474G>A	uc003gpr.1	+	8	848	c.644G>A	c.(643-645)TGC>TAC	p.C215Y	SLIT2_uc003gps.1_Missense_Mutation_p.C215Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	215	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						TATTGTGACTGCCACCTGGCC	0.468													A	20490474	G	A	20490474	3	1	172	1	0	0	0	0	1	0	0	0	14740	1319	46	2	674	2	SLIT2	4	20490474	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2976886	20490474	170663802	460	93572											
PI4K2B	55300	broad.mit.edu	37	chr4	25270149	25270149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattctaccatatatttctgAcatgaactttgtgcaagatt	6	7	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:25270149A>G	uc003grk.2	+	8	1296	c.1163A>G	c.(1162-1164)GAC>GGC	p.D388G	PI4K2B_uc011bxs.1_Missense_Mutation_p.D292G	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	388	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				TATATTTCTGACATGAACTTT	0.303													G	25270149	A	G	25270149	3	3	172	1	0	0	0	0	1	0	0	0	11872	275	10	3	1193	3	PI4K2B	4	25270149	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4779675	25270149	165884127	461	93573											
STIM2	57620	broad.mit.edu	37	chr4	27024487	27024487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgttcctcagctggcaacGacagtaaaccagttcaggaa	9	11	2	0	rs145387199		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:27024487G>A	uc003gsh.3	+	13	2611	c.2395G>A	c.(2395-2397)GAC>AAC	p.D799N	STIM2_uc003gsg.3_Missense_Mutation_p.D791N|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	704	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				AGCTGGCAACGACAGTAAACC	0.468													A	27024487	G	A	27024487	3	1	172	1	0	0	0	0	1	0	0	0	15283	1058	37	1	2225	1	STIM2	4	27024487	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1754338	27024487	164129789	462	93574											
N4BP2	55728	broad.mit.edu	37	chr4	40108561	40108561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggagtcattcttagtaCtgatgattatttttatataa	7	3	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:40108561C>T	uc003guy.3	+	5	1753	c.1415C>T	c.(1414-1416)ACT>ATT	p.T472I	N4BP2_uc010ifq.2_Missense_Mutation_p.T392I|N4BP2_uc010ifr.2_Missense_Mutation_p.T392I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	472						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						ATTCTTAGTACTGATGATTAT	0.318													T	40108561	C	T	40108561	3	4	172	1	0	0	0	0	1	0	0	0	10110	565	20	4	1425	4	N4BP2	4	40108561	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	13084074	40108561	151045715	463	93575											
RHOH	399	broad.mit.edu	37	chr4	40244932	40244932	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattccccttgctgaatggcGtgtgctgcagctgcccactg	11	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:40244932G>A	uc003guz.2	+	3	650	c.-74G>A	c.(-76--72)GCGTG>GCATG			NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor						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			ovary(1)|lung(1)	2						GCTGAATGGCGTGTGCTGCAG	0.557													A	40244932	G	A	40244932	1	1	172	1	0	0	0	0	0	0	0	0	13340	1160	40	1		1	RHOH	4	40244932	Translation_Start_Site	SNP	G	TCGA-CG-4442-01A-01D-1158-08	136371	40244932	150909344	464	93576											
LIMCH1	22998	broad.mit.edu	37	chr4	41607973	41607973	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcacatcctacagcggaacGacactaaacctgaaggagtt	9	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:41607973G>A	uc003gvu.3	+	6	492	c.438G>A	c.(436-438)ACG>ACA	p.T146T	LIMCH1_uc003gvt.1_5'UTR|LIMCH1_uc003gvv.3_Silent_p.T146T|LIMCH1_uc003gvw.3_Silent_p.T146T|LIMCH1_uc003gvx.3_Silent_p.T146T|LIMCH1_uc003gwe.3_Silent_p.T146T|LIMCH1_uc003gvy.3_5'UTR|LIMCH1_uc003gwa.3_5'UTR|LIMCH1_uc003gvz.3_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	146					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						ACAGCGGAACGACACTAAACC	0.448													A	41607973	G	A	41607973	2	1	172	1	0	0	0	0	0	0	0	1	8797	1045	37	1		1	LIMCH1	4	41607973	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1363041	41607973	149546303	465	93577											
GUF1	60558	broad.mit.edu	37	chr4	44699434	44699434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttttacagtgtgaaagcCtataggaaaaacgttttggc	9	7	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:44699434C>T	uc003gww.3	+	16	2052	c.1845C>T	c.(1843-1845)GCC>GCT	p.A615A	GUF1_uc011bza.1_Silent_p.A22A	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	615					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						GTGTGAAAGCCTATAGGAAAA	0.299													T	44699434	C	T	44699434	2	4	172	1	0	0	0	0	0	0	0	1	6899	668	24	4		4	GUF1	4	44699434	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3091461	44699434	146454842	466	93578											
SLAIN2	57606	broad.mit.edu	37	chr4	48371975	48371975	+	Frame_Shift_Del	DEL	A	A	-													gtcctgatgttgagtgtgctAaaaaatctcttatccacaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48371975delA	uc003gya.3	+	2	643	c.499delA	c.(499-501)AAAfs	p.K167fs		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	167						centrosome					0						TGAGTGTGCTAAAAAATCTCT	0.343													-	48371975	A	-	48371975	7	5	172	1	0	1	0	1	0	0	0	0	14366	363	13	0	505	0	SLAIN2	4	48371975	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	3672541	48371975	142782301	467	93579											
SLAIN2	57606	broad.mit.edu	37	chr4	48384616	48384616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgcagccaccacgtcTcggcgcagttctggttcatc	10	13	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48384616T>C	uc003gya.3	+	5	1038	c.894T>C	c.(892-894)TCT>TCC	p.S298S	SLAIN2_uc003gyb.1_5'UTR	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	298						centrosome					0						CCACCACGTCTCGGCGCAGTT	0.338													C	48384616	T	C	48384616	2	2	172	1	0	0	0	0	0	0	0	1	14366	1538	54	3		3	SLAIN2	4	48384616	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	12641	48384616	142769660	468	93580											
FRYL	285527	broad.mit.edu	37	chr4	48588687	48588687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcataccgtcaggaatcaAccttggaatcgcagcaatac	8	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48588687A>G	uc003gyh.1	-	19	2304	c.1699T>C	c.(1699-1701)TTG>CTG	p.L567L	FRYL_uc003gyk.2_Silent_p.L567L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TCAGGAATCAACCTTGGAATC	0.343													G	48588687	A	G	48588687	2	3	172	1	0	0	0	0	0	0	0	1	6064	40	2	3		3	FRYL	4	48588687	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	204071	48588687	142565589	469	93581											
FRYL	285527	broad.mit.edu	37	chr4	48622719	48622719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttccgttccattttggCgtctgtaccagtcaaacaag	7	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:48622719C>T	uc003gyh.1	-	6	856	c.251G>A	c.(250-252)CGC>CAC	p.R84H	FRYL_uc003gyk.2_Missense_Mutation_p.R84H|FRYL_uc003gyl.1_Missense_Mutation_p.R135H|FRYL_uc003gym.1_Missense_Mutation_p.R84H	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TCCATTTTGGCGTCTGTACCA	0.418													T	48622719	C	T	48622719	3	4	172	1	0	0	0	0	1	0	0	0	6064	768	27	1	9026	1	FRYL	4	48622719	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	34032	48622719	142531557	470	93582											
LRRC66	339977	broad.mit.edu	37	chr4	52883364	52883364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctgaagctgcttctgTggcgtttcacccatgaggac	11	10	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:52883364T>C	uc003gzi.2	-	1	429	c.416A>G	c.(415-417)CAC>CGC	p.H139R		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	139						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GCTGCTTCTGTGGCGTTTCAC	0.433													C	52883364	T	C	52883364	3	2	172	1	0	0	0	0	1	0	0	0	9018	1696	59	3	2242	3	LRRC66	4	52883364	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4260645	52883364	138270912	471	93583											
SPATA18	132671	broad.mit.edu	37	chr4	52943136	52943136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaggcccgcctggacgCgcagtgcctgctgcggcgct	14	17	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:52943136C>T	uc003gzl.2	+	7	1228	c.950C>T	c.(949-951)GCG>GTG	p.A317V	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.A285V|SPATA18_uc003gzk.1_Missense_Mutation_p.A317V	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	317					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGCCTGGACGCGCAGTGCCTG	0.642													T	52943136	C	T	52943136	3	4	172	1	0	0	0	0	1	0	0	0	15002	768	27	1	976	1	SPATA18	4	52943136	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	59772	52943136	138211140	472	93584											
FIP1L1	81608	broad.mit.edu	37	chr4	54325484	54325484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtaatagtagacgtcgCcatgaaagtgaagaaggaga	12	6	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:54325484C>T	uc003gzy.2	+	18	1839	c.1653C>T	c.(1651-1653)CGC>CGT	p.R551R	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Silent_p.R545R|FIP1L1_uc003gzz.2_Silent_p.R477R|FIP1L1_uc003hab.2_Silent_p.R516R|FIP1L1_uc003hac.2_Silent_p.R305R|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.A136V|FIP1L1_uc003hae.2_Missense_Mutation_p.A139V	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	551	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTAGACGTCGCCATGAAAGTG	0.373			T	PDGFRA	idiopathic hypereosinophilic syndrome								T	54325484	C	T	54325484	2	4	172	1	0	0	0	0	0	0	0	1	5896	726	26	2		2	FIP1L1	4	54325484	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1382348	54325484	136828792	473	93585											
IGFBP7	3490	broad.mit.edu	37	chr4	57898593	57898593	+	Splice_Site	DEL	T	T	-													tgtgagatttattgtgtaccTtttttcactggtatttcatg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:57898592_57898592CT>C	uc003hcn.3	-	4	863	c.829_splice	c.e4+1	p.G277_splice	IGFBP7_uc011cag.2_Frame_Shift_Del_p.G277fs	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	277				PVKKGEGAEL -> ASEKR (in Ref. 1; AAA16187).	cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTGTGTACCTTTTTTCACT	0.358													-	57898593	T	-	57898593	8	5	172	1	0	1	0	1	0	0	1	0	7584	1623	56	0	28	0	IGFBP7	4	57898593	Splice_Site	DEL	T	TCGA-CG-4442-01A-01D-1158-08	3573109	57898593	133255683	474	93586											
STAP1	26228	broad.mit.edu	37	chr4	68456664	68456664	+	Frame_Shift_Del	DEL	A	A	-													aaactacactattgaactggAaaaacctgtaagtaactatt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:68456664delA	uc003hde.3	+	7	804	c.722delA	c.(721-723)GAAfs	p.E241fs	STAP1_uc003hdf.2_Frame_Shift_Del_p.E241fs	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	241	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						ATTGAACTGGAAAAACCTGTA	0.383													-	68456664	A	-	68456664	7	5	172	1	0	1	0	1	0	0	0	0	15251	246	9	0	748	0	STAP1	4	68456664	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	10558071	68456664	122697612	475	93587											
EREG	2069	broad.mit.edu	37	chr4	75246761	75246762	+	Frame_Shift_Del	DEL	AA	AA	-													agacaatccacgtgtggctcAagtgtcaataacaaagtgta					rs145916659	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:75246761_75246762delAA	uc003hie.1	+	3	351_352	c.185_186delAA	c.(184-186)CAAfs	p.Q62fs	EREG_uc003hid.2_Frame_Shift_Del_p.Q56fs	NM_001432	NP_001423	O14944	EREG_HUMAN	epiregulin preproprotein	62	Extracellular (Potential).				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)|skin(1)	2			Lung(101;0.196)			CGTGTGGCTCAAGTGTCAATAA	0.396													-	75246762	AA	-	75246761	7	5	172	1	0	1	0	1	0	0	0	0	5220	130	5	0	195	0	EREG	4	75246761	Frame_Shift_Del	DEL	AA	TCGA-CG-4442-01A-01D-1158-08	6790097	75246761	115907515	476	93588											
CDKL2	8999	broad.mit.edu	37	chr4	76522205	76522205	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattgtgtgtaagtgggggAattgccacgcttggattcct	14	6	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:76522205A>G	uc003hiq.2	-	9	1761	c.1236T>C	c.(1234-1236)ATT>ATC	p.I412I	CDKL2_uc011cbp.1_Silent_p.I412I	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	412					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TAAGTGGGGGAATTGCCACGC	0.453													G	76522205	A	G	76522205	2	3	172	1	0	0	0	0	0	0	0	1	3154	242	9	3		3	CDKL2	4	76522205	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1275444	76522205	114632071	477	93589											
SHROOM3	57619	broad.mit.edu	37	chr4	77662420	77662420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaacgaggtggggatcGtggaggaggccgaaccggca	19	7	0	2	rs151102508		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:77662420G>A	uc011cbx.1	+	5	4047	c.3094G>A	c.(3094-3096)GTG>ATG	p.V1032M	SHROOM3_uc011cbz.1_Missense_Mutation_p.V856M|SHROOM3_uc003hkf.1_Missense_Mutation_p.V907M|SHROOM3_uc003hkg.2_Missense_Mutation_p.V810M	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1032					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			skin(2)|ovary(1)	3			Lung(101;0.0903)			GGTGGGGATCGTGGAGGAGGC	0.697													A	77662420	G	A	77662420	3	1	172	1	0	0	0	0	1	0	0	0	14295	1145	40	1	3112	1	SHROOM3	4	77662420	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1140215	77662420	113491856	478	93590											
GK2	2712	broad.mit.edu	37	chr4	80327750	80327751	+	Frame_Shift_Ins	INS	-	-	A													ttaccatgctactcactataINSaaaaatcccaaaggcagact							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:80327749_80327750T>TA	uc003hlu.3	-	0	1623_1624	c.1605_1606A>TA	c.(1603-1608)tttatafs	p.F535fs		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	535					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						CTACTCACTATAAAAAATCCCA	0.406													A	80327751	-	A	80327750	7	5	172	1	0	1	1	0	0	0	0	0	6421	359	13	0	60	0	GK2	4	80327750	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2665330	80327750	110826526	479	93591											
PRDM8	56978	broad.mit.edu	37	chr4	81124490	81124490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtctgcccgcgcagaActggtgcgccaagtgcaatg	14	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:81124490A>G	uc010ijo.2	+	8	2713	c.1874A>G	c.(1873-1875)AAC>AGC	p.N625S	PRDM8_uc003hmb.3_Missense_Mutation_p.N625S|PRDM8_uc003hmc.3_Missense_Mutation_p.N625S	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	625	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCCGCGCAGAACTGGTGCGCC	0.388													G	81124490	A	G	81124490	3	3	172	1	0	0	0	0	1	0	0	0	12462	43	2	3	1884	3	PRDM8	4	81124490	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	796740	81124490	110029786	480	93592											
BMP3	651	broad.mit.edu	37	chr4	81967644	81967644	+	Frame_Shift_Del	DEL	A	A	-													aatttgatgagcagaccctgAaaaaggcaaggagaaagcag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:81967644delA	uc003hmg.3	+	2	1389	c.1069delA	c.(1069-1071)AAAfs	p.K357fs		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	357					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						GCAGACCCTGAAAAAGGCAAG	0.478													-	81967644	A	-	81967644	7	5	172	1	0	1	0	1	0	0	0	0	1461	247	9	0	1075	0	BMP3	4	81967644	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	843154	81967644	109186632	481	93593											
HNRPDL	9987	broad.mit.edu	37	chr4	83348411	83348411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctttttgttgttgcTgttgctgcctatatacctct	6	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:83348411T>G	uc003hmr.2	-	5	1488	c.953A>C	c.(952-954)CAG>CCG	p.Q318P	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.Q318P	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	318	Poly-Gln.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				TTGTTGTTGCTGTTGCTGCCT	0.413													G	83348411	T	G	83348411	3	3	172	1	0	0	0	0	1	0	0	0	7276	1580	55	5	321	5	HNRPDL	4	83348411	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1380767	83348411	107805865	482	93594											
SEC31A	22872	broad.mit.edu	37	chr4	83770124	83770124	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcacgaagctgcatgaTatttggctaaaaaggattgg	11	6	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:83770124T>A	uc003hnf.2	-	20	2499	c.2335A>T	c.(2335-2337)ATC>TTC	p.I779F	SEC31A_uc003hne.2_Missense_Mutation_p.I512F|SEC31A_uc011ccl.1_Missense_Mutation_p.I740F|SEC31A_uc003hnl.2_Missense_Mutation_p.I740F|SEC31A_uc003hng.2_Missense_Mutation_p.I779F|SEC31A_uc003hnh.2_Missense_Mutation_p.I779F|SEC31A_uc003hni.2_Missense_Mutation_p.I779F|SEC31A_uc003hnj.2_Missense_Mutation_p.I740F|SEC31A_uc011ccm.1_Missense_Mutation_p.I774F|SEC31A_uc011ccn.1_Missense_Mutation_p.I779F|SEC31A_uc003hnk.2_Missense_Mutation_p.I740F|SEC31A_uc003hnm.2_Missense_Mutation_p.I779F|SEC31A_uc003hnn.1_Missense_Mutation_p.I779F	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	779					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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				AGCTGCATGATATTTGGCTAA	0.413													A	83770124	T	A	83770124	3	1	172	1	0	0	0	0	1	0	0	0	13998	1406	49	5	1359	5	SEC31A	4	83770124	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	421713	83770124	107384152	483	93595											
COPS4	51138	broad.mit.edu	37	chr4	83978203	83978203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcttcagaatgaatcaAccaatgaacaattacagata	6	8	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:83978203A>G	uc003hoa.2	+	5	674	c.535A>G	c.(535-537)ACC>GCC	p.T179A	COPS4_uc003hob.2_Missense_Mutation_p.T179A|COPS4_uc010ijw.2_Missense_Mutation_p.T179A|COPS4_uc010ijx.2_Missense_Mutation_p.T179A	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	179					cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				GAATGAATCAACCAATGAACA	0.373													G	83978203	A	G	83978203	3	3	172	1	0	0	0	0	1	0	0	0	3735	43	2	3	553	3	COPS4	4	83978203	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	208079	83978203	107176073	484	93596											
PLAC8	51316	broad.mit.edu	37	chr4	84015872	84015872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggctctccttctgttgaTatctctcttgatttggcaaa	7	10	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:84015872T>C	uc003hoe.2	-	4	477	c.316A>G	c.(316-318)ATC>GTC	p.I106V	PLAC8_uc011cco.1_Missense_Mutation_p.I106V|PLAC8_uc010ijy.2_RNA|PLAC8_uc010ijz.2_RNA|PLAC8_uc003hod.2_Missense_Mutation_p.I106V	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	106										ovary(1)	1		Hepatocellular(203;0.114)				CTTCTGTTGATATCTCTCTTG	0.363													C	84015872	T	C	84015872	3	2	172	1	0	0	0	0	1	0	0	0	12015	1406	49	3	35	3	PLAC8	4	84015872	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	37669	84015872	107138404	485	93597											
FAM175A	84142	broad.mit.edu	37	chr4	84383916	84383916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcgagatggtggttgtaGttacagctacttttagaaac	10	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:84383916G>T	uc003hou.2	-	9	1001	c.936C>A	c.(934-936)AAC>AAA	p.N312K	MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Missense_Mutation_p.N140K|FAM175A_uc003hov.2_Missense_Mutation_p.N203K	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	312					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			kidney(1)	1						GGTGGTTGTAGTTACAGCTAC	0.363													T	84383916	G	T	84383916	3	4	172	1	0	0	0	0	1	0	0	0	5497	1020	36	5	297	5	FAM175A	4	84383916	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	368044	84383916	106770360	486	93598											
WDFY3	23001	broad.mit.edu	37	chr4	85708820	85708820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccgtgctcaccactggtGgatttgccgaacctgaaccc	10	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:85708820G>T	uc003hpd.2	-	23	4124	c.3716C>A	c.(3715-3717)CCA>CAA	p.P1239Q		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1239						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CACCACTGGTGGATTTGCCGA	0.493													T	85708820	G	T	85708820	3	4	172	1	0	0	0	0	1	0	0	0	17267	1348	47	5	7048	5	WDFY3	4	85708820	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1324904	85708820	105445456	487	93599											
SPP1	6696	broad.mit.edu	37	chr4	88902839	88902839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacggacctgccagcaacCgaagttttcactccagttgt	8	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:88902839C>T	uc003hra.2	+	6	594	c.429C>T	c.(427-429)ACC>ACT	p.T143T	SPP1_uc003hrb.2_Silent_p.T116T|SPP1_uc003hrc.2_Silent_p.T129T|SPP1_uc011cde.1_Silent_p.T156T|SPP1_uc003hrd.2_Silent_p.T102T	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	143					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TGCCAGCAACCGAAGTTTTCA	0.458													T	88902839	C	T	88902839	2	4	172	1	0	0	0	0	0	0	0	1	15085	639	23	1		1	SPP1	4	88902839	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3194019	88902839	102251437	488	93600											
PKD2	5311	broad.mit.edu	37	chr4	88979251	88979251	+	Frame_Shift_Del	DEL	T	T	-													gttctttatgttcttcattcTtttggtatgtacatttttat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:88979251delT	uc003hre.2	+	9	2081	c.2015delT	c.(2014-2016)CTTfs	p.L672fs	PKD2_uc011cdf.1_Frame_Shift_Del_p.L90fs|PKD2_uc011cdg.1_Intron|PKD2_uc011cdh.1_Intron	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	672	Helical; (Potential).					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			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTCTTCATTCTTTTGGTATGT	0.308													-	88979251	T	-	88979251	7	5	172	1	0	1	0	1	0	0	0	0	11966	1609	56	0	2049	0	PKD2	4	88979251	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	76412	88979251	102175025	489	93601											
ABCG2	9429	broad.mit.edu	37	chr4	89052253	89052253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctaactcttgaatgAccctgttaatccgttcgttt	6	12	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:89052253A>G	uc003hrg.2	-	5	984	c.491T>C	c.(490-492)GTC>GCC	p.V164A	ABCG2_uc003hrh.2_Missense_Mutation_p.V164A|ABCG2_uc003hrf.2_Missense_Mutation_p.V34A	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	164	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		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)	CTCTTGAATGACCCTGTTAAT	0.433													G	89052253	A	G	89052253	3	3	172	1	0	0	0	0	1	0	0	0	69	275	10	3	1524	3	ABCG2	4	89052253	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	73002	89052253	102102023	490	93602											
HERC3	8916	broad.mit.edu	37	chr4	89589160	89589160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctactccaggattccaagTattatataacattgactatt	4	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:89589160T>C	uc003hrw.1	+	14	1727	c.1561T>C	c.(1561-1563)TAT>CAT	p.Y521H	HERC3_uc011cdn.1_Missense_Mutation_p.Y403H|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	521					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGATTCCAAGTATTATATAAC	0.428													C	89589160	T	C	89589160	3	2	172	1	0	0	0	0	1	0	0	0	7059	1638	57	3	1607	3	HERC3	4	89589160	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	536907	89589160	101565116	491	93603											
GPRIN3	285513	broad.mit.edu	37	chr4	90170454	90170454	+	Frame_Shift_Del	DEL	G	G	-													tgccgaaggttcgctagtgaGgggggttggttgaggtgtca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:90170454delG	uc003hsm.1	-	2	1327	c.808delC	c.(808-810)CTCfs	p.L270fs		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	270										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCGCTAGTGAGGGGGGTTGGT	0.557													-	90170454	G	-	90170454	7	5	172	1	0	1	0	1	0	0	0	0	6731	1000	35	0	1526	0	GPRIN3	4	90170454	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	581294	90170454	100983822	492	93604											
GRID2	2895	broad.mit.edu	37	chr4	94316827	94316827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaattggagaataacatgCgtggagtggttctacgtgta	13	4	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:94316827C>T	uc011cdt.1	+	9	1573	c.1315C>T	c.(1315-1317)CGT>TGT	p.R439C	GRID2_uc011cdu.1_Missense_Mutation_p.R344C	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	439	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	GAATAACATGCGTGGAGTGGT	0.393													T	94316827	C	T	94316827	3	4	172	1	0	0	0	0	1	0	0	0	6772	768	27	1	1349	1	GRID2	4	94316827	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4146373	94316827	96837449	493	93605											
BANK1	55024	broad.mit.edu	37	chr4	102951225	102951225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagaagaaagaagaggAaaaagagcaggaggaggaag	16	1	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:102951225A>G	uc003hvy.3	+	10	1977	c.1703A>G	c.(1702-1704)GAA>GGA	p.E568G	BANK1_uc003hvx.3_Missense_Mutation_p.E553G|BANK1_uc010ill.2_Missense_Mutation_p.E435G|BANK1_uc003hvz.3_Missense_Mutation_p.E538G	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	568					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		aaagaagaggaaaaagagcag	0.294													G	102951225	A	G	102951225	3	3	172	1	0	0	0	0	1	0	0	0	1309	246	9	3	1741	3	BANK1	4	102951225	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	8634398	102951225	88203051	494	93606											
TACR3	6870	broad.mit.edu	37	chr4	104640758	104640758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggcagctagcgaggcGgtcaggttcacggcgtctgc	16	14	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:104640758G>A	uc003hxe.1	-	1	218	c.75C>T	c.(73-75)ACC>ACT	p.T25T		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	25	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTAGCGAGGCGGTCAGGTTCA	0.687													A	104640758	G	A	104640758	2	1	172	1	0	0	0	0	0	0	0	1	15504	1103	39	1		1	TACR3	4	104640758	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1689533	104640758	86513518	495	93607											
GSTCD	79807	broad.mit.edu	37	chr4	106755632	106755632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggtagcattgcatgcTtgtggagtggcaacagacat	13	6	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:106755632T>C	uc003hxz.3	+	9	1617	c.1545T>C	c.(1543-1545)GCT>GCC	p.A515A	GSTCD_uc003hxy.3_Silent_p.A428A|GSTCD_uc011cfb.1_Silent_p.A138A	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	515						cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CATTGCATGCTTGTGGAGTGG	0.423													C	106755632	T	C	106755632	2	2	172	1	0	0	0	0	0	0	0	1	6835	1596	56	3		3	GSTCD	4	106755632	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2114874	106755632	84398644	496	93608											
SEC24B	10427	broad.mit.edu	37	chr4	110459743	110459743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accattaagtccaatccttcAcatagtaaagtaagtacttt	4	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:110459743A>G	uc003hzk.2	+	23	3738	c.3683A>G	c.(3682-3684)CAC>CGC	p.H1228R	SEC24B_uc003hzl.2_Missense_Mutation_p.H1193R|SEC24B_uc011cfp.1_Missense_Mutation_p.H1258R|SEC24B_uc011cfq.1_Missense_Mutation_p.H1227R|SEC24B_uc011cfr.1_Missense_Mutation_p.H1192R	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCAATCCTTCACATAGTAAAG	0.363													G	110459743	A	G	110459743	3	3	172	1	0	0	0	0	1	0	0	0	13995	159	6	3	3773	3	SEC24B	4	110459743	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3704111	110459743	80694533	497	93609											
C4orf21	55345	broad.mit.edu	37	chr4	113539998	113539998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttctaattttacttcCtgattccaggatggatcatt	7	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:113539998C>A	uc003iau.2	-	6	1411	c.1200G>T	c.(1198-1200)CAG>CAT	p.Q400H	C4orf21_uc003iaw.2_Missense_Mutation_p.Q400H	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTTTACTTCCTGATTCCAGG	0.343													A	113539998	C	A	113539998	3	1	172	1	0	0	0	0	1	0	0	0	2254	680	24	5	5206	5	C4orf21	4	113539998	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3080255	113539998	77614278	498	93610											
ARSJ	79642	broad.mit.edu	37	chr4	114824636	114824636	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccacttcccaaaagggaAccaaaaaaggtatcaaatcc	5	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:114824636A>G	uc003ibq.1	-	2	1482	c.594T>C	c.(592-594)GGT>GGC	p.G198G	ARSJ_uc010imu.1_Silent_p.G198G|ARSJ_uc010imv.1_Silent_p.G26G	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	198						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCAAAAGGGAACCAAAAAAGG	0.438													G	114824636	A	G	114824636	2	3	172	1	0	0	0	0	0	0	0	1	995	30	2	3		3	ARSJ	4	114824636	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1284638	114824636	76329640	499	93611											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-													tcccactccgttttctgttcTttttttagaagatctcgacc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:118005517delT	uc003ibv.3	-	1	1220	c.1033delA	c.(1033-1035)AGAfs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	345	Cytoplasmic (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						TTTTCTGTTCTTTTTTTAGAA	0.383													-	118005517	T	-	118005517	7	5	172	1	0	1	0	1	0	0	0	0	16449	1617	56	0	80	0	TRAM1L1	4	118005517	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	3180881	118005517	73148759	500	93612											
SYNPO2	171024	broad.mit.edu	37	chr4	119951132	119951132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgtttaagaagcgacGtcggagggccaggaaataca	14	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:119951132G>A	uc003icm.3	+	4	1398	c.1202G>A	c.(1201-1203)CGT>CAT	p.R401H	SYNPO2_uc010ina.2_Missense_Mutation_p.R401H|SYNPO2_uc010inb.2_Missense_Mutation_p.R401H|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.R329H	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	401	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						AAGAAGCGACGTCGGAGGGCC	0.507													A	119951132	G	A	119951132	3	1	172	1	0	0	0	0	1	0	0	0	15454	1145	40	1	1216	1	SYNPO2	4	119951132	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1945615	119951132	71203144	501	93613											
PDE5A	8654	broad.mit.edu	37	chr4	120427073	120427073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttataagttcaaaaAattctcctcgcctcctacaa	2	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:120427073A>G	uc003idh.2	-	17	2359	c.2204T>C	c.(2203-2205)TTT>TCT	p.F735S	uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.F693S|PDE5A_uc003idg.2_Missense_Mutation_p.F683S	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	735	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAGTTCAAAAAATTCTCCTCG	0.308													G	120427073	A	G	120427073	3	3	172	1	0	0	0	0	1	0	0	0	11644	14	1	3	443	3	PDE5A	4	120427073	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	475941	120427073	70727203	502	93614											
TNIP3	79931	broad.mit.edu	37	chr4	122075732	122075732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcgttttatttcacattCgtaatgttccttttccttgt	7	8	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:122075732C>T	uc010ing.2	-	5	662	c.466G>A	c.(466-468)GAA>AAA	p.E156K	TNIP3_uc010inh.2_Missense_Mutation_p.E156K|TNIP3_uc011cgj.1_Missense_Mutation_p.E214K|TNIP3_uc010ini.2_Missense_Mutation_p.E156K	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	156	Potential.									ovary(1)	1						ATTTCACATTCGTAATGTTCC	0.358													T	122075732	C	T	122075732	3	4	172	1	0	0	0	0	1	0	0	0	16313	893	31	1	539	1	TNIP3	4	122075732	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1648659	122075732	69078544	503	93615											
TMEM155	132332	broad.mit.edu	37	chr4	122682762	122682762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgccattcccagaaaaGccagtgcatggcacactctg	8	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:122682762G>A	uc003idx.1	-	5	702	c.143C>T	c.(142-144)GCT>GTT	p.A48V	TMEM155_uc003idy.1_Missense_Mutation_p.A48V	NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	transmembrane protein 155 precursor	48						extracellular region					0						TCCCAGAAAAGCCAGTGCATG	0.423													A	122682762	G	A	122682762	3	1	172	1	0	0	0	0	1	0	0	0	16069	971	34	2	257	2	TMEM155	4	122682762	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	607030	122682762	68471514	504	93616											
TRPC3	7222	broad.mit.edu	37	chr4	122853842	122853842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgaggatggcctctaCgatgcgcacgtagcccttgc	14	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:122853842C>T	uc003ieg.2	-	2	645	c.571G>A	c.(571-573)GTA>ATA	p.V191I	TRPC3_uc010inr.2_Missense_Mutation_p.V118I|TRPC3_uc003ief.2_Missense_Mutation_p.V118I|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	106	Cytoplasmic (Potential).|ANK 3.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ATGGCCTCTACGATGCGCACG	0.632													T	122853842	C	T	122853842	3	4	172	1	0	0	0	0	1	0	0	0	16576	536	19	1	2238	1	TRPC3	4	122853842	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	171080	122853842	68300434	505	93617											
SPATA5	166378	broad.mit.edu	37	chr4	123859335	123859335	+	Frame_Shift_Del	DEL	G	G	-													gcactttgtccgaaaagagaGggggcccagaatgaagtgga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:123859335delG	uc003iez.3	+	8	1462	c.1389delG	c.(1387-1389)GAGfs	p.E463fs	SPATA5_uc003iey.2_Frame_Shift_Del_p.E462fs	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	463					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						CGAAAAGAGAGGGGGCCCAGA	0.363													-	123859335	G	-	123859335	7	5	172	1	0	1	0	1	0	0	0	0	15010	991	35	0	1419	0	SPATA5	4	123859335	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	1005493	123859335	67294941	506	93618											
FAT4	79633	broad.mit.edu	37	chr4	126239277	126239277	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatgcccagcttgtagtaActctcctagatgtgaatgat	8	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:126239277A>C	uc003ifj.3	+	1	1711	c.1711A>C	c.(1711-1713)ACT>CCT	p.T571P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	571	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCTTGTAGTAACTCTCCTAGA	0.502											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	126239277	A	C	126239277	3	2	172	1	0	0	0	0	1	0	0	0	5692	43	2	5	1713	5	FAT4	4	126239277	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2379942	126239277	64914999	507	93619											
FAT4	79633	broad.mit.edu	37	chr4	126371710	126371710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaactggttactgcagtgTgaccgtaaatgtgattgatg	12	5	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:126371710T>C	uc003ifj.3	+	9	9539	c.9539T>C	c.(9538-9540)GTG>GCG	p.V3180A	FAT4_uc011cgp.1_Missense_Mutation_p.V1478A|FAT4_uc003ifi.1_Missense_Mutation_p.V658A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3180	Cadherin 30.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TACTGCAGTGTGACCGTAAAT	0.413													C	126371710	T	C	126371710	3	2	172	1	0	0	0	0	1	0	0	0	5692	1696	59	3	9573	3	FAT4	4	126371710	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	132433	126371710	64782566	508	93620											
FAT4	79633	broad.mit.edu	37	chr4	126373095	126373095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtgaagccacaggatccaGatgtgttagacagcttccac	10	11	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:126373095G>A	uc003ifj.3	+	9	10924	c.10924G>A	c.(10924-10926)GAT>AAT	p.D3642N	FAT4_uc011cgp.1_Missense_Mutation_p.D1940N|FAT4_uc003ifi.1_Missense_Mutation_p.D1120N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3642	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACAGGATCCAGATGTGTTAGA	0.473													A	126373095	G	A	126373095	3	1	172	1	0	0	0	0	1	0	0	0	5692	942	33	4	10958	4	FAT4	4	126373095	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1385	126373095	64781181	509	93621											
PLK4	10733	broad.mit.edu	37	chr4	128814517	128814517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacactttaaaaagtgaaAgtgaagttaatagcttgaaa	7	4	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:128814517A>G	uc003ifo.2	+	11	2511	c.2266A>G	c.(2266-2268)AGT>GGT	p.S756G	PLK4_uc011cgs.1_Missense_Mutation_p.S724G|PLK4_uc011cgt.1_Missense_Mutation_p.S715G	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	756					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				0						AAAAAGTGAAAGTGAAGTTAA	0.294													G	128814517	A	G	128814517	3	3	172	1	0	0	0	0	1	0	0	0	12098	72	3	3	2308	3	PLK4	4	128814517	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2441422	128814517	62339759	510	93622											
SCLT1	132320	broad.mit.edu	37	chr4	129878248	129878250	+	In_Frame_Del	DEL	TCT	TCT	-													tctctttcattttctctatgTcttcttctttttgcttctcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:129878247_129878249GTCT>G	uc003igp.2	-	12	1584_1586	c.1078_1080AGAC>C	c.(1078-1080)gac>C	p.D360del	SCLT1_uc003ign.2_In_Frame_Del_p.D24del|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	360						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTTCTCTATGTCTTCTTCTTTT	0.286													-	129878250	TCT	-	129878248	7	5	172	1	0	1	0	1	0	0	0	0	13906	1667	58	0	1023	0	SCLT1	4	129878248	In_Frame_Del	DEL	TCT	TCGA-CG-4442-01A-01D-1158-08	1063731	129878248	61276028	511	93623											
PCDH10	57575	broad.mit.edu	37	chr4	134072897	134072897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgctccttcgactatgaGcagctgaaggacttcagttt	10	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:134072897G>A	uc003iha.2	+	1	2428	c.1602G>A	c.(1600-1602)GAG>GAA	p.E534E	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.E534E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	534	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGACTATGAGCAGCTGAAGG	0.557													A	134072897	G	A	134072897	2	1	172	1	0	0	0	0	0	0	0	1	11507	962	34	2		2	PCDH10	4	134072897	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4194649	134072897	57081379	512	93624											
MAML3	55534	broad.mit.edu	37	chr4	140641268	140641268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatttgggtcatgcctgTgctcatattgtacattcctg	8	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:140641268T>C	uc003ihz.1	-	7	3363	c.2611A>G	c.(2611-2613)ACA>GCA	p.T871A	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.T339A	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	872	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GTCATGCCTGTGCTCATATTG	0.582													C	140641268	T	C	140641268	3	2	172	1	0	0	0	0	1	0	0	0	9207	1696	59	3	794	3	MAML3	4	140641268	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6568371	140641268	50513008	513	93625											
TBC1D9	23158	broad.mit.edu	37	chr4	141598226	141598231	+	In_Frame_Del	DEL	CTCTCA	CTCTCA	-													gccggaaaagtgcacggtatCtctcactctttgccctggca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:141598225_141598230TCTCTCA>T	uc010ioj.3	-	5	1149_1154	c.877_882TGAGAGA>A	c.(877-882)gagaga>A	p.ER293del		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	293	GRAM 2.					intracellular	Rab GTPase activator activity|calcium ion binding			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)				GTGCACGGTATCTCTCACTCTTTGCC	0.422													-	141598231	CTCTCA	-	141598226	7	5	172	1	0	1	0	1	0	0	0	0	15624	913	32	0	2983	0	TBC1D9	4	141598226	In_Frame_Del	DEL	CTCTCA	TCGA-CG-4442-01A-01D-1158-08	956958	141598226	49556050	514	93626											
SMARCA5	8467	broad.mit.edu	37	chr4	144467118	144467118	+	Frame_Shift_Del	DEL	A	A	-													gcctaatgcagcacaggcacAaaaagaagaacagcttaaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:144467117_144467117CA>C	uc003ijg.3	+	18	2899	c.2437_2437CA>C	c.(2437-2439)caafs	p.Q813fs		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	813					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	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)					AGCACAGGCACAAAAAGAAGA	0.363													-	144467118	A	-	144467118	7	5	172	1	0	1	0	1	0	0	0	0	14771	130	5	0	2512	0	SMARCA5	4	144467118	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	2868892	144467118	46687158	515	93627											
HHIP	64399	broad.mit.edu	37	chr4	145627734	145627734	+	Frame_Shift_Del	DEL	A	A	-													cattccatcccaattacaagAaaaatggaaagttgtatgtg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:145627734delA	uc003ijs.1	+	5	1538	c.883delA	c.(883-885)AAAfs	p.K295fs		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	295						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAATTACAAGAAAAATGGAAA	0.418													-	145627734	A	-	145627734	7	5	172	1	0	1	0	1	0	0	0	0	7092	247	9	0	901	0	HHIP	4	145627734	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1160616	145627734	45526542	516	93628											
ANAPC10	10393	broad.mit.edu	37	chr4	145916687	145916687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtatcatgaatgtacgAgttggcttcttatgattgtc	9	6	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:145916687A>G	uc003iju.3	-	6	551	c.396T>C	c.(394-396)ACT>ACC	p.T132T	ANAPC10_uc003ijv.3_Silent_p.T132T|ANAPC10_uc003ijw.3_Silent_p.T132T	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	132	DOC.				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	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)					TGAATGTACGAGTTGGCTTCT	0.398													G	145916687	A	G	145916687	2	3	172	1	0	0	0	0	0	0	0	1	599	291	11	3		3	ANAPC10	4	145916687	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	288953	145916687	45237589	517	93629											
ABCE1	6059	broad.mit.edu	37	chr4	146041093	146041093	+	Frame_Shift_Del	DEL	T	T	-													cttcccaacaggcataaacaTttttttggatggctatgttc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:146041093delT	uc003ijx.2	+	11	1372	c.932delT	c.(931-933)ATTfs	p.I311fs	ABCE1_uc003ijy.2_Frame_Shift_Del_p.I311fs|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	311	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			skin(1)	1	all_hematologic(180;0.151)					GGCATAAACATTTTTTTGGAT	0.358													-	146041093	T	-	146041093	7	5	172	1	0	1	0	1	0	0	0	0	64	1493	52	0	970	0	ABCE1	4	146041093	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	124406	146041093	45113183	518	93630											
TMEM184C	55751	broad.mit.edu	37	chr4	148555054	148555054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggatgtctcagatattAgagatgatatttctgaacaa	10	4	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:148555054A>G	uc003ila.3	+	9	1587	c.1018A>G	c.(1018-1020)AGA>GGA	p.R340G		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	340						integral to membrane					0						CTCAGATATTAGAGATGATAT	0.383													G	148555054	A	G	148555054	3	3	172	1	0	0	0	0	1	0	0	0	16103	412	15	3	1052	3	TMEM184C	4	148555054	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2513961	148555054	42599222	519	93631											
FHDC1	85462	broad.mit.edu	37	chr4	153897218	153897218	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaccagagctgtcatcccgGgggccctcccagaatccccc	10	19	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:153897218G>T	uc003inf.2	+	11	2850	c.2775G>T	c.(2773-2775)CGG>CGT	p.R925R		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	925					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					TGTCATCCCGGGGGCCCTCCC	0.667													T	153897218	G	T	153897218	2	4	172	1	0	0	0	0	0	0	0	1	5876	1219	43	5		5	FHDC1	4	153897218	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5342164	153897218	37257058	520	93632											
TLR2	7097	broad.mit.edu	37	chr4	154625490	154625490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattttctttgaatttgccGcaactcaaagaactttatat	4	7	2	2	rs150700268		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:154625490G>A	uc003inq.2	+	3	1650	c.1431G>A	c.(1429-1431)CCG>CCA	p.P477P	TLR2_uc003inr.2_Silent_p.P477P|TLR2_uc003ins.2_Silent_p.P477P	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	477	LRR 13.|Extracellular (Potential).				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			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				TGAATTTGCCGCAACTCAAAG	0.373													A	154625490	G	A	154625490	2	1	172	1	0	0	0	0	0	0	0	1	15948	1074	38	1		1	TLR2	4	154625490	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	728272	154625490	36528786	521	93633											
DCHS2	54798	broad.mit.edu	37	chr4	155163886	155163886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattacagtcgtattagaaAgcctgggcatccctttatct	8	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:155163886A>G	uc003inw.2	-	22	5615	c.5615T>C	c.(5614-5616)CTT>CCT	p.L1872P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1872	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGTATTAGAAAGCCTGGGCAT	0.398													G	155163886	A	G	155163886	3	3	172	1	0	0	0	0	1	0	0	0	4288	72	3	3	3151	3	DCHS2	4	155163886	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	538396	155163886	35990390	522	93634											
RBM46	166863	broad.mit.edu	37	chr4	155720146	155720146	+	Frame_Shift_Del	DEL	T	T	-													gagattatgcttttgttcacTttttcaaccgagaagatgca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:155720146delT	uc003ioo.2	+	4	1005	c.832delT	c.(832-834)TTTfs	p.F278fs	RBM46_uc011cim.1_Frame_Shift_Del_p.F278fs|RBM46_uc003iop.1_Frame_Shift_Del_p.F278fs	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	278	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TTTTGTTCACTTTTTCAACCG	0.368													-	155720146	T	-	155720146	7	5	172	1	0	1	0	1	0	0	0	0	13140	1609	56	0	842	0	RBM46	4	155720146	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	556260	155720146	35434130	523	93635											
KLHL2	11275	broad.mit.edu	37	chr4	166218824	166218824	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcaagagtttatggccCgactgatggaacatgtacgg	14	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:166218824C>T	uc003irb.2	+	7	977	c.718C>T	c.(718-720)CGA>TGA	p.R240*	KLHL2_uc011cjm.1_Nonsense_Mutation_p.R244*|KLHL2_uc003irc.2_Nonsense_Mutation_p.R152*|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	240					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	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)		GTTTATGGCCCGACTGATGGA	0.398													T	166218824	C	T	166218824	4	4	172	1	0	0	0	0	0	1	0	0	8374	644	23	1	786	1	KLHL2	4	166218824	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	10498678	166218824	24935452	524	93636											
KLHL2	11275	broad.mit.edu	37	chr4	166231869	166231869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgttaaatggattaTtatacgctgtgggaggcttt	12	5	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:166231869T>C	uc003irb.2	+	10	1463	c.1204T>C	c.(1204-1206)TTA>CTA	p.L402L	KLHL2_uc011cjm.1_Silent_p.L406L|KLHL2_uc003irc.2_Silent_p.L314L|KLHL2_uc010ira.2_Silent_p.L55L	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	402	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	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)		AAATGGATTATTATACGCTGT	0.423													C	166231869	T	C	166231869	2	2	172	1	0	0	0	0	0	0	0	1	8374	1490	52	3		3	KLHL2	4	166231869	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	13045	166231869	24922407	525	93637											
GALNTL6	442117	broad.mit.edu	37	chr4	173730604	173730604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggactcatccggaccCgtctcctgggggcatctatg	13	12	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:173730604C>A	uc003isv.2	+	6	1382	c.646C>A	c.(646-648)CGT>AGT	p.R216S		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	216	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CATCCGGACCCGTCTCCTGGG	0.517													A	173730604	C	A	173730604	3	1	172	1	0	0	0	0	1	0	0	0	6225	652	23	5	664	5	GALNTL6	4	173730604	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	7498735	173730604	17423672	526	93638											
SPCS3	60559	broad.mit.edu	37	chr4	177241279	177241279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcgccttctcgctgagcGtgatggcggcgctcaccttc	12	14	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:177241279G>A	uc003iur.3	+	1	190	c.52G>A	c.(52-54)GTG>ATG	p.V18M		NM_021928	NP_068747	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3	18	Helical; Signal-anchor for type II membrane protein; (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(1)	1		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CTCGCTGAGCGTGATGGCGGC	0.637													A	177241279	G	A	177241279	3	1	172	1	0	0	0	0	1	0	0	0	15024	1145	40	1	54	1	SPCS3	4	177241279	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3510675	177241279	13912997	527	93639											
ODZ3	55714	broad.mit.edu	37	chr4	183664526	183664526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcgatttcaactatgtgCggcggatattcccttctgga	11	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:183664526C>T	uc003ivd.1	+	18	3620	c.3583C>T	c.(3583-3585)CGG>TGG	p.R1195W	ODZ3_uc003ive.1_Missense_Mutation_p.R601W	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1195	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAACTATGTGCGGCGGATATT	0.453													T	183664526	C	T	183664526	3	4	172	1	0	0	0	0	1	0	0	0	10836	759	27	1	3653	1	ODZ3	4	183664526	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	6423247	183664526	7489750	528	93640											
ODZ3	55714	broad.mit.edu	37	chr4	183696226	183696226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgactttgcctggcgagAacggtcaaaacttggtggaa	12	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:183696226A>G	uc003ivd.1	+	23	5261	c.5224A>G	c.(5224-5226)AAC>GAC	p.N1742D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1742	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCCTGGCGAGAACGGTCAAAA	0.542													G	183696226	A	G	183696226	3	3	172	1	0	0	0	0	1	0	0	0	10836	246	9	3	5314	3	ODZ3	4	183696226	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	31700	183696226	7458050	529	93641											
C4orf41	60684	broad.mit.edu	37	chr4	184614802	184614802	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaaccccctgcactgacTaatgaaatgtattgtttggt	8	9	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:184614802T>C	uc003ivx.2	+	21	2474	c.2298T>C	c.(2296-2298)ACT>ACC	p.T766T	C4orf41_uc003ivw.2_Silent_p.T766T|C4orf41_uc010isc.2_Silent_p.T110T|C4orf41_uc003ivy.2_Silent_p.T372T	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	766											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CTGCACTGACTAATGAAATGT	0.403													C	184614802	T	C	184614802	2	2	172	1	0	0	0	0	0	0	0	1	2270	1509	53	3		3	C4orf41	4	184614802	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	918576	184614802	6539474	530	93642											
PDLIM3	27295	broad.mit.edu	37	chr4	186423511	186423511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgtgcgggctcttgcGtgggtttcgcagtacagctc	15	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:186423511G>A	uc003ixw.3	-	8	1156	c.1032C>T	c.(1030-1032)CAC>CAT	p.H344H	PDLIM3_uc003ixx.3_Silent_p.H296H|PDLIM3_uc010isi.2_RNA	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	344	LIM zinc-binding.					sarcomere	zinc ion binding			ovary(2)	2		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)		GGGCTCTTGCGTGGGTTTCGC	0.498													A	186423511	G	A	186423511	2	1	172	1	0	0	0	0	0	0	0	1	11681	1136	40	1		1	PDLIM3	4	186423511	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1808709	186423511	4730765	531	93643											
MTNR1A	4543	broad.mit.edu	37	chr4	187454877	187454877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttactacattattgttgGtcatcagtggagacggtttc	9	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187454877G>T	uc003izd.1	-	2	1037	c.1019C>A	c.(1018-1020)ACC>AAC	p.T340N		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	340	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		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)	ATTATTGTTGGTCATCAGTGG	0.502													T	187454877	G	T	187454877	3	4	172	1	0	0	0	0	1	0	0	0	9951	1261	44	5	37	5	MTNR1A	4	187454877	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1031366	187454877	3699399	532	93644											
FAT1	2195	broad.mit.edu	37	chr4	187510305	187510305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcatcaatcacctcaTagttggggaactcttgtatg	8	10	6	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187510305T>C	uc003izf.2	-	27	13396	c.13208A>G	c.(13207-13209)TAT>TGT	p.Y4403C	FAT1_uc010isn.2_Missense_Mutation_p.Y50C|FAT1_uc003ize.2_Missense_Mutation_p.Y294C	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4403	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AATCACCTCATAGTTGGGGAA	0.483										HNSCC(5;0.00058)			C	187510305	T	C	187510305	3	2	172	1	0	0	0	0	1	0	0	0	5689	1406	49	3	562	3	FAT1	4	187510305	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	55428	187510305	3643971	533	93645											
FAT1	2195	broad.mit.edu	37	chr4	187530973	187530973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtgatgacagactgctcAagaacggcatcttcactgat	9	11	3	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187530973A>G	uc003izf.2	-	15	10238	c.10050T>C	c.(10048-10050)CTT>CTC	p.L3350L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3350	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CAGACTGCTCAAGAACGGCAT	0.398										HNSCC(5;0.00058)			G	187530973	A	G	187530973	2	3	172	1	0	0	0	0	0	0	0	1	5689	117	5	3		3	FAT1	4	187530973	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	20668	187530973	3623303	534	93646											
FAT1	2195	broad.mit.edu	37	chr4	187628465	187628465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaacctggatgatttcActatgtacctccttgtcttc	6	12	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr4:187628465A>G	uc003izf.2	-	2	2705	c.2517T>C	c.(2515-2517)AGT>AGC	p.S839S	FAT1_uc010iso.1_Silent_p.S839S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	839	Extracellular (Potential).|Cadherin 7.				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GGATGATTTCACTATGTACCT	0.453										HNSCC(5;0.00058)			G	187628465	A	G	187628465	2	3	172	1	0	0	0	0	0	0	0	1	5689	156	6	3		3	FAT1	4	187628465	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	97492	187628465	3525811	535	93647											
SLC9A3	6550	broad.mit.edu	37	chr5	475020	475020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtggactcggggagggCggcggggggccgctcctcgg	23	10	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:475020C>T	uc003jbe.2	-	16	2591	c.2479G>A	c.(2479-2481)GCC>ACC	p.A827T	SLC9A3_uc011clx.1_Missense_Mutation_p.A818T|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	827	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCGGGGAGGGCGGCGGGGGGC	0.592													T	475020	C	T	475020	3	4	172	1	0	0	0	0	1	0	0	0	14713	768	27	1	33	1	SLC9A3	5	475020	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08		475020	180440240	536	93648											
SLC12A7	10723	broad.mit.edu	37	chr5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-													tcacctccagttcttggtgtGggggggaccgtgctccacgc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					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)	GTTCTTGGTGTGGGGGGGACC	0.647													-	1074698	G	-	1074698	7	5	172	1	0	1	0	1	0	0	0	0	14388	1348	47	0	1231	0	SLC12A7	5	1074698	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	599678	1074698	179840562	537	93649											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146476	5146476	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaggcactaagtctgtgCagactttaccgccagaggac	11	11	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:5146476C>T	uc003jdl.2	+	3	547	c.409C>T	c.(409-411)CAG>TAG	p.Q137*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Q137*|ADAMTS16_uc003jdj.1_Nonsense_Mutation_p.Q137*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TAAGTCTGTGCAGACTTTACC	0.522													T	5146476	C	T	5146476	4	4	172	1	0	0	0	0	0	1	0	0	261	711	25	2	419	2	ADAMTS16	5	5146476	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4071778	5146476	175768784	538	93650											
CTNND2	1501	broad.mit.edu	37	chr5	11159846	11159846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcattttgagtgcatcGcatgaggagaggttccaaag	13	6	0	3	rs149766664	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:11159846G>A	uc003jfa.1	-	12	2146	c.2001C>T	c.(1999-2001)TGC>TGT	p.C667C	CTNND2_uc010itt.2_Silent_p.C576C|CTNND2_uc011cmy.1_Silent_p.C330C|CTNND2_uc011cmz.1_Silent_p.C234C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.C234C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	667					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TGAGTGCATCGCATGAGGAGA	0.483													A	11159846	G	A	11159846	2	1	172	1	0	0	0	0	0	0	0	1	4020	1079	38	1		1	CTNND2	5	11159846	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6013370	11159846	169755414	539	93651											
DNAH5	1767	broad.mit.edu	37	chr5	13845086	13845087	+	Frame_Shift_Ins	INS	-	-	T													aaccgaggaaagcacagtcgINSttttttctccaagtacctac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:13845086_13845087insT	uc003jfd.2	-	32	5172_5173	c.5130_5131insA	c.(5128-5133)AAACGAfs	p.K1710fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1710_1711	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AAGCACAGTCGTTTTTTCTCCA	0.46									Kartagener_syndrome				T	13845087	-	T	13845086	7	5	172	1	0	1	1	0	0	0	0	0	4604	1153	40	0	8935	0	DNAH5	5	13845086	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2685240	13845086	167070174	540	93652	456	2									
DNAH5	1767	broad.mit.edu	37	chr5	13845087	13845088	+	Frame_Shift_Ins	INS	-	-	T													accgaggaaagcacagtcgtINStttttctccaagtacctaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:13845086_13845087G>GT	uc003jfd.2	-	31	5172_5173	c.5130_5131C>AC	c.(5128-5133)aaacgafs	p.K1710fs		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1710	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1711Q(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)					AAGCACAGTCGTTTTTTCTCCA	0.46									Kartagener syndrome				T	13845088	-	T	13845087	7	5	172	1	0	1	1	0	0	0	0	0	4604	1722	60	0	8936	0	DNAH5	5	13845087	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	13845087	167070173	541	93653	456	2									
DNAH5	1767	broad.mit.edu	37	chr5	13876895	13876895	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggtttgcacgggaatGggtaaatttacagatgctat	11	5	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:13876895G>T	uc003jfd.2	-	22	3336	c.3294C>A	c.(3292-3294)CCC>CCA	p.P1098P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1098	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCACGGGAATGGGTAAATTTA	0.328									Kartagener_syndrome				T	13876895	G	T	13876895	2	4	172	1	0	0	0	0	0	0	0	1	4604	1335	47	5		5	DNAH5	5	13876895	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	31808	13876895	167038365	542	93654											
TRIO	7204	broad.mit.edu	37	chr5	14378154	14378154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcttccaacgggagaacaGggtattgcattactggacca	10	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:14378154G>T	uc003jff.2	+	20	3371	c.3365G>T	c.(3364-3366)AGG>ATG	p.R1122M	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R1073M|TRIO_uc003jfh.1_Missense_Mutation_p.R771M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1122	Spectrin 4.				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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CGGGAGAACAGGGTATTGCAT	0.458													T	14378154	G	T	14378154	3	4	172	1	0	0	0	0	1	0	0	0	16549	1000	35	5	3443	5	TRIO	5	14378154	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	501259	14378154	166537106	543	93655											
TRIO	7204	broad.mit.edu	37	chr5	14498693	14498693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgacggcatctacacgtGcatcgctgtcaatgacatgg	11	10	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:14498693G>A	uc003jff.2	+	53	8282	c.8276G>A	c.(8275-8277)TGC>TAC	p.C2759Y	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2759	Ig-like C2-type.				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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ATCTACACGTGCATCGCTGTC	0.587													A	14498693	G	A	14498693	3	1	172	1	0	0	0	0	1	0	0	0	16549	1319	46	2	8486	2	TRIO	5	14498693	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	120539	14498693	166416567	544	93656											
PRDM9	56979	broad.mit.edu	37	chr5	23527575	23527575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataagtcaaacctcctcaGtcaccagaggacacacacag	7	13	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:23527575G>A	uc003jgo.2	+	11	2560	c.2378G>A	c.(2377-2379)AGT>AAT	p.S793N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	793	C2H2-type 11.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AACCTCCTCAGTCACCAGAGG	0.562										HNSCC(3;0.000094)			A	23527575	G	A	23527575	3	1	172	1	0	0	0	0	1	0	0	0	12463	1029	36	4	2416	4	PRDM9	5	23527575	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	9028882	23527575	157387685	545	93657											
RNASEN	29102	broad.mit.edu	37	chr5	31449427	31449427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgaacttttctgtctcCgtatttgggctgccgaattc	10	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:31449427C>T	uc003jhg.2	-	21	3141	c.2782G>A	c.(2782-2784)GGA>AGA	p.G928R	RNASEN_uc003jhh.2_Missense_Mutation_p.G891R|RNASEN_uc003jhi.2_Missense_Mutation_p.G891R	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	928	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TTTCTGTCTCCGTATTTGGGC	0.398													T	31449427	C	T	31449427	3	4	172	1	0	0	0	0	1	0	0	0	13417	661	23	1	1402	1	RNASEN	5	31449427	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	7921852	31449427	149465833	546	93658											
PDZD2	23037	broad.mit.edu	37	chr5	31983706	31983706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccacaagcaatgacaaaCgccgcttctcaaaaggtggg	10	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:31983706C>T	uc003jhl.2	+	3	1310	c.922C>T	c.(922-924)CGC>TGC	p.R308C	PDZD2_uc003jhm.2_Missense_Mutation_p.R308C|PDZD2_uc011cnx.1_Missense_Mutation_p.R134C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	308					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAATGACAAACGCCGCTTCTC	0.493													T	31983706	C	T	31983706	3	4	172	1	0	0	0	0	1	0	0	0	11701	536	19	1	928	1	PDZD2	5	31983706	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	534279	31983706	148931554	547	93659											
TARS	6897	broad.mit.edu	37	chr5	33467736	33467736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaataaggtccacggggaaCgcaccatttctgaaactatc	8	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:33467736C>T	uc003jhy.2	+	19	2390	c.2095C>T	c.(2095-2097)CGC>TGC	p.R699C	TARS_uc011cob.1_Missense_Mutation_p.R687C|TARS_uc011coc.1_Missense_Mutation_p.R720C|TARS_uc003jhz.2_Missense_Mutation_p.R595C|TARS_uc011cod.1_Missense_Mutation_p.R578C	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	699					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	CCACGGGGAACGCACCATTTC	0.418													T	33467736	C	T	33467736	3	4	172	1	0	0	0	0	1	0	0	0	15556	536	19	1	2169	1	TARS	5	33467736	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1484030	33467736	147447524	548	93660											
RAI14	26064	broad.mit.edu	37	chr5	34814751	34814751	+	Frame_Shift_Del	DEL	T	T	-													tatcgggaaaggaatcggtaTtttttgctgaaccacccttc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:34814751delT	uc003jir.2	+	12	1112	c.916delT	c.(916-918)TTTfs	p.F306fs	RAI14_uc010iur.2_Frame_Shift_Del_p.F277fs|RAI14_uc011coj.1_Frame_Shift_Del_p.F306fs|RAI14_uc010ius.1_Frame_Shift_Del_p.F235fs|RAI14_uc003jis.2_Frame_Shift_Del_p.F309fs|RAI14_uc003jit.2_Frame_Shift_Del_p.F306fs|RAI14_uc011cok.1_Frame_Shift_Del_p.F298fs	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	306						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					GGAATCGGTATTTTTTGCTGA	0.323													-	34814751	T	-	34814751	7	5	172	1	0	1	0	1	0	0	0	0	13008	1493	52	0	1023	0	RAI14	5	34814751	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1347015	34814751	146100509	549	93661											
C5orf42	65250	broad.mit.edu	37	chr5	37162611	37162611	+	Frame_Shift_Del	DEL	T	T	-													cttgacttcctatagctttcTtttttacagaggccatgaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:37162611delT	uc011cpa.1	-	38	7877	c.7646delA	c.(7645-7647)AAGfs	p.K2549fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.K1049fs|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Frame_Shift_Del_p.K1624fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2549										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TATAGCTTTCTTTTTTACAGA	0.284													-	37162611	T	-	37162611	7	5	172	1	0	1	0	1	0	0	0	0	2301	1609	56	0	2007	0	C5orf42	5	37162611	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	2347860	37162611	143752649	550	93662											
PLCXD3	345557	broad.mit.edu	37	chr5	41382376	41382376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctcctcaaggccttcatTgactttggcactgaacaaac	7	12	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:41382376T>C	uc003jmm.1	-	2	466	c.364A>G	c.(364-366)AAT>GAT	p.N122D		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	122	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						AGGCCTTCATTGACTTTGGCA	0.433													C	41382376	T	C	41382376	3	2	172	1	0	0	0	0	1	0	0	0	12043	1812	63	3	609	3	PLCXD3	5	41382376	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4219765	41382376	139532884	551	93663											
NNT	23530	broad.mit.edu	37	chr5	43659315	43659315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggtgctgacatgcccGtcgttatcactgtgctgaac	13	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:43659315G>A	uc003joe.2	+	17	2752	c.2497G>A	c.(2497-2499)GTC>ATC	p.V833I	NNT_uc003jof.2_Missense_Mutation_p.V833I	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	833	Helical; (Potential).				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			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGACATGCCCGTCGTTATCAC	0.473													A	43659315	G	A	43659315	3	1	172	1	0	0	0	0	1	0	0	0	10510	1145	40	1	2559	1	NNT	5	43659315	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2276939	43659315	137255945	552	93664											
PARP8	79668	broad.mit.edu	37	chr5	50057724	50057724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccgaagaattttattacGgagggcaggtaaggaaacct	11	6	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:50057724G>A	uc003jon.3	+	7	597	c.415G>A	c.(415-417)GGA>AGA	p.G139R	PARP8_uc011cpz.1_Missense_Mutation_p.G31R|PARP8_uc003joo.2_Missense_Mutation_p.G139R|PARP8_uc003jop.2_Missense_Mutation_p.G139R	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	139						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTTTATTACGGAGGGCAGGT	0.373													A	50057724	G	A	50057724	3	1	172	1	0	0	0	0	1	0	0	0	11465	1117	39	1	437	1	PARP8	5	50057724	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6398409	50057724	130857536	553	93665											
DHX29	54505	broad.mit.edu	37	chr5	54579187	54579187	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagaaaatgtggtacctgAgtacttttaccactccctgt	7	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:54579187A>G	uc003jpx.2	-	11	1929	c.1809T>C	c.(1807-1809)ACT>ACC	p.T603T	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	603	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GTGGTACCTGAGTACTTTTAC	0.413													G	54579187	A	G	54579187	2	3	172	1	0	0	0	0	0	0	0	1	4503	291	11	3		3	DHX29	5	54579187	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4521463	54579187	126336073	554	93666											
CENPH	64946	broad.mit.edu	37	chr5	68491598	68491599	+	Frame_Shift_Ins	INS	-	-	A													taaaagttgcttttgagataINSaaaaagcttgcattagacag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:68491597_68491598T>TA	uc003jvp.3	+	3	380_381	c.293_294T>TA	c.(292-294)atafs	p.I98fs	CENPH_uc010ixc.3_Frame_Shift_Ins_p.I98fs	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	98					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		GCTTTTGAGATAAAAAAGCTTG	0.312													A	68491599	-	A	68491598	7	5	172	1	0	1	1	0	0	0	0	0	3232	352	13	0	308	0	CENPH	5	68491598	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	13912411	68491598	112423662	555	93667											
GCNT4	51301	broad.mit.edu	37	chr5	74324987	74324987	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatatctgaatgttatggggGggtgcttccttggagatgtt	14	4	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:74324987G>C	uc003kdn.2	-	1	1738	c.876C>G	c.(874-876)CCC>CCG	p.P292P		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	292	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TGTTATGGGGGGGTGCTTCCT	0.358													C	74324987	G	C	74324987	2	2	172	1	0	0	0	0	0	0	0	1	6303	1219	43	5		5	GCNT4	5	74324987	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5833389	74324987	106590273	556	93668											
HMGCR	3156	broad.mit.edu	37	chr5	74643031	74643031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgatctgttttaggaTgaagtaagggaaaatattgc	11	2	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:74643031T>C	uc003kdp.2	+	6	609	c.453T>C	c.(451-453)GAT>GAC	p.D151D	HMGCR_uc011cst.1_Silent_p.D171D|HMGCR_uc003kdq.2_Silent_p.D151D|HMGCR_uc010izn.1_5'UTR	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	151					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			ovary(1)	1		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)	TGTTTTAGGATGAAGTAAGGG	0.358													C	74643031	T	C	74643031	2	2	172	1	0	0	0	0	0	0	0	1	7231	1461	51	3		3	HMGCR	5	74643031	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	318044	74643031	106272229	557	93669											
COL4A3BP	10087	broad.mit.edu	37	chr5	74696125	74696125	+	Splice_Site	DEL	A	A	-													caccttttcactctgtgactAaaaaaacatataatattaag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:74696124_74696124TA>T	uc011csu.2	-	10	1440	c.1018_splice	c.e10-1	p.S340_splice	COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	340					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	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)		ACTCTGTGACTAAAAAAACAT	0.368													-	74696125	A	-	74696125	8	5	172	1	0	1	0	1	0	0	1	0	3692	377	13	0		0	COL4A3BP	5	74696125	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	53094	74696125	106219135	558	93670											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81613882	81613882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgcgcctcctccttctcGccagcttttctgatcggcct	8	17	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:81613882G>A	uc003khv.2	+	10	1763	c.438G>A	c.(436-438)TCG>TCA	p.S146S	ATP6AP1L_uc003khw.2_Silent_p.S146S	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory	146					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						CCTCCTTCTCGCCAGCTTTTC	0.537													A	81613882	G	A	81613882	2	1	172	1	0	0	0	0	0	0	0	1	1166	1074	38	1		1	ATP6AP1L	5	81613882	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6917757	81613882	99301378	559	93671											
RASA1	5921	broad.mit.edu	37	chr5	86645084	86645084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagataatactcctggcgatTattcactttatttccggacc	6	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:86645084T>C	uc003kiw.2	+	8	1274	c.1156T>C	c.(1156-1158)TAT>CAT	p.Y386H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Y209H|RASA1_uc011ctv.1_Missense_Mutation_p.Y219H|RASA1_uc011ctw.1_Missense_Mutation_p.Y220H|RASA1_uc010jaw.2_Missense_Mutation_p.Y208H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	386	SH2 2.				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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		TCCTGGCGATTATTCACTTTA	0.358													C	86645084	T	C	86645084	3	2	172	1	0	0	0	0	1	0	0	0	13060	1754	61	3	1198	3	RASA1	5	86645084	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5031202	86645084	94270176	560	93672											
POLR3G	10622	broad.mit.edu	37	chr5	89783832	89783832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggatacagattataaaCcagtgccactgaaaacagga	8	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:89783832C>T	uc003kjq.2	+	3	333	c.133C>T	c.(133-135)CCA>TCA	p.P45S	POLR3G_uc011cuc.1_Missense_Mutation_p.P45S	NM_006467	NP_006458	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	45					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	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity				0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGATTATAAACCAGTGCCACT	0.303													T	89783832	C	T	89783832	3	4	172	1	0	0	0	0	1	0	0	0	12234	507	18	4	139	4	POLR3G	5	89783832	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3138748	89783832	91131428	561	93673											
ANKRD32	84250	broad.mit.edu	37	chr5	94030769	94030769	+	Frame_Shift_Del	DEL	A	A	-													ttgatttatcttcagagttcAttttagcttccaaagggtta							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:94030769delA	uc003kkr.3	+	21	3009	c.2929delA	c.(2929-2931)ATTfs	p.I977fs	ANKRD32_uc003kks.2_Frame_Shift_Del_p.I341fs	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	977										ovary(2)	2		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)		TTCAGAGTTCATTTTAGCTTC	0.333													-	94030769	A	-	94030769	7	5	172	1	0	1	0	1	0	0	0	0	660	217	8	0	3007	0	ANKRD32	5	94030769	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	4246937	94030769	86884491	562	93674											
RFESD	317671	broad.mit.edu	37	chr5	94991908	94991908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggattcacacagtgacAgtagacaacggaaatattta	8	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:94991908A>G	uc003klf.2	+	5	1761	c.369A>G	c.(367-369)ACA>ACG	p.T123T	RFESD_uc003klg.2_Silent_p.T176T|RFESD_uc011cun.1_Silent_p.T176T|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing isoform 2	123	Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		ACACAGTGACAGTAGACAACG	0.383													G	94991908	A	G	94991908	2	3	172	1	0	0	0	0	0	0	0	1	13249	175	7	3		3	RFESD	5	94991908	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	961139	94991908	85923352	563	93675											
GLRX	2745	broad.mit.edu	37	chr5	95152333	95152333	+	Splice_Site	DEL	A	A	-													aataaagactcgaggcacctAaaaaagcacacgacccagga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:95152332_95152332TA>T	uc021ybn.1	-	2	419	c.208_splice	c.e2-1	p.V70_splice	GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice	NM_001243659	NP_001230588	P35754	GLRX1_HUMAN	Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA.	70	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-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;2.62e-16)	Glutathione(DB00143)	TCGAGGCACCTAAAAAAGCAC	0.413													-	95152333	A	-	95152333	8	5	172	1	0	1	0	1	0	0	1	0	6459	377	13	0		0	GLRX	5	95152333	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	160425	95152333	85762927	564	93676											
ERAP2	64167	broad.mit.edu	37	chr5	96239120	96239120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccagttgggtgaaatTtaatgtggactcaaatggtt	11	4	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:96239120T>C	uc003kmq.2	+	13	2578	c.1868T>C	c.(1867-1869)TTT>TCT	p.F623S	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F623S|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F572S|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	623	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGGGTGAAATTTAATGTGGAC	0.398													C	96239120	T	C	96239120	3	2	172	1	0	0	0	0	1	0	0	0	5204	1841	64	3	1914	3	ERAP2	5	96239120	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1086787	96239120	84676140	565	93677											
ERAP2	64167	broad.mit.edu	37	chr5	96253217	96253217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggatcacatctggatattTttcaaactgttctggaaacg	8	7	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:96253217T>C	uc003kmq.2	+	19	3501	c.2791T>C	c.(2791-2793)TTT>CTT	p.F931L	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F931L|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F880L|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	931	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TCTGGATATTTTTCAAACTGT	0.313													C	96253217	T	C	96253217	3	2	172	1	0	0	0	0	1	0	0	0	5204	1841	64	3	2861	3	ERAP2	5	96253217	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	14097	96253217	84662043	566	93678											
LNPEP	4012	broad.mit.edu	37	chr5	96362455	96362455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaactggaataagcttgTacagaagtaagtttctcaga	10	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:96362455T>C	uc003kmv.1	+	16	3372	c.2858T>C	c.(2857-2859)GTA>GCA	p.V953A	LNPEP_uc003kmw.1_Missense_Mutation_p.V939A	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	953	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		AATAAGCTTGTACAGAAGTAA	0.378													C	96362455	T	C	96362455	3	2	172	1	0	0	0	0	1	0	0	0	8864	1638	57	3	2920	3	LNPEP	5	96362455	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	109238	96362455	84552805	567	93679											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191913	100191913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgcttctctcctccttTgaccatgaaagcaggaatcc	7	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:100191913T>C	uc003knk.2	-	4	1019	c.691A>G	c.(691-693)AAA>GAA	p.K231E		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	231	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTCCTCCTTTGACCATGAAA	0.418													C	100191913	T	C	100191913	3	2	172	1	0	0	0	0	1	0	0	0	15233	1821	63	3	396	3	ST8SIA4	5	100191913	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3829458	100191913	80723347	568	93680											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						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)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	172	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1563815	101755728	79159532	569	93681											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834428	101834428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcccgggcttcgaggActtcggggttcccttggccc	12	13	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:101834428A>G	uc003knn.2	-	1	293	c.121T>C	c.(121-123)TCC>CCC	p.S41P	SLCO6A1_uc003kno.2_Missense_Mutation_p.S41P|SLCO6A1_uc003knp.2_Missense_Mutation_p.S41P|SLCO6A1_uc003knq.2_Missense_Mutation_p.S41P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	41	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		GGCTTCGAGGACTTCGGGGTT	0.582													G	101834428	A	G	101834428	3	3	172	1	0	0	0	0	1	0	0	0	14732	275	10	3	2090	3	SLCO6A1	5	101834428	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	78700	101834428	79080832	570	93682											
GIN1	54826	broad.mit.edu	37	chr5	102423850	102423850	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcatgatctgccactaCtgaaccttgcaagagataaa	8	9	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:102423850C>G	uc003koa.1	-	8	1403	c.1321G>C	c.(1321-1323)GTA>CTA	p.V441L	GIN1_uc003kob.1_Missense_Mutation_p.V294L|GIN1_uc003koc.1_Missense_Mutation_p.Q222H	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	441					DNA integration		DNA binding			ovary(1)|skin(1)	2		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)		TCTGCCACTACTGAACCTTGC	0.289													G	102423850	C	G	102423850	3	3	172	1	0	0	0	0	1	0	0	0	6386	565	20	5	251	5	GIN1	5	102423850	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	589422	102423850	78491410	571	93683											
PPIP5K2	23262	broad.mit.edu	37	chr5	102519007	102519007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attataccagtggtgtgggtActgggcgtcgaagacgcaga	15	7	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:102519007A>G	uc003kod.3	+	25	3514	c.2995A>G	c.(2995-2997)ACT>GCT	p.T999A	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.T999A|PPIP5K2_uc003kof.2_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	999					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			ovary(1)|skin(1)	2						TGGTGTGGGTACTGGGCGTCG	0.512													G	102519007	A	G	102519007	3	3	172	1	0	0	0	0	1	0	0	0	12333	391	14	3	3089	3	PPIP5K2	5	102519007	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	95157	102519007	78396253	572	93684											
FER	2241	broad.mit.edu	37	chr5	108294945	108294945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacatgtatcgattcgaggGcactgggttttcaaacattc	10	8	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:108294945G>A	uc003kop.1	+	13	1937	c.1553G>A	c.(1552-1554)GGC>GAC	p.G518D	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.G343D	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	518	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		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)		CGATTCGAGGGCACTGGGTTT	0.348													A	108294945	G	A	108294945	3	1	172	1	0	0	0	0	1	0	0	0	5813	1203	42	2	1595	2	FER	5	108294945	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5775938	108294945	72620315	573	93685											
APC	324	broad.mit.edu	37	chr5	112178834	112178834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctaatctcagtcccactAtagagtataatgatggaaga	7	9	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:112178834A>G	uc010jby.2	+	16	7923	c.7543A>G	c.(7543-7545)ATA>GTA	p.I2515V	APC_uc011cvt.1_Missense_Mutation_p.I2497V|APC_uc003kpz.3_Missense_Mutation_p.I2515V|APC_uc003kpy.3_Missense_Mutation_p.I2515V|APC_uc010jbz.2_Missense_Mutation_p.I2232V|APC_uc010jca.2_Missense_Mutation_p.I1815V	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2515	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)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		CAGTCCCACTATAGAGTATAA	0.453		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112178834	A	G	112178834	3	3	172	1	0	0	0	0	1	0	0	0	763	449	16	3	7601	3	APC	5	112178834	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3883889	112178834	68736426	574	93686											
FEM1C	56929	broad.mit.edu	37	chr5	114861055	114861055	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttcattgcctttttccaGtatttcaaagccccaagcag	6	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:114861055G>T	uc003krb.1	-	3	1366	c.804C>A	c.(802-804)TAC>TAA	p.Y268*		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	268	TPR 1.					cytoplasm				breast(2)|ovary(1)	3		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)		CCTTTTTCCAGTATTTCAAAG	0.398													T	114861055	G	T	114861055	4	4	172	1	0	0	0	0	0	1	0	0	5811	1024	36	5	1053	5	FEM1C	5	114861055	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2682221	114861055	66054205	575	93687											
FBN2	2201	broad.mit.edu	37	chr5	127670530	127670530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatttaggtcacattcaTtgacatctagaaaatttatt	5	5	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:127670530T>C	uc003kuu.2	-	31	4419	c.3980A>G	c.(3979-3981)AAT>AGT	p.N1327S	FBN2_uc003kuv.2_Missense_Mutation_p.N1294S	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1327	EGF-like 21; 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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GTCACATTCATTGACATCTAG	0.348													C	127670530	T	C	127670530	3	2	172	1	0	0	0	0	1	0	0	0	5703	1493	52	3	4898	3	FBN2	5	127670530	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	12809475	127670530	53244730	576	93688											
FBN2	2201	broad.mit.edu	37	chr5	127744418	127744418	+	Frame_Shift_Del	DEL	A	A	-													atatccacgtggacaaacacAaaaatagcttcccacggtgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:127744417_127744417CA>C	uc003kuu.3	-	7	1467	c.1028_1028TG>G	c.(1027-1029)tgtfs	p.C343fs	FBN2_uc003kuv.2_Frame_Shift_Del_p.C310fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	343	EGF-like 5; 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)		TGGACAAACACAAAAATAGCT	0.433													-	127744418	A	-	127744418	7	5	172	1	0	1	0	1	0	0	0	0	5703	130	5	0	7943	0	FBN2	5	127744418	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	73888	127744418	53170842	577	93689											
ADAMTS19	171019	broad.mit.edu	37	chr5	128977572	128977572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttatttgcacaggattAtggtgcaaggtagaaggtga	13	4	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:128977572A>G	uc003kvb.1	+	11	1773	c.1773A>G	c.(1771-1773)TTA>TTG	p.L591L	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	591	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		GCACAGGATTATGGTGCAAGG	0.393													G	128977572	A	G	128977572	2	3	172	1	0	0	0	0	0	0	0	1	264	446	16	3		3	ADAMTS19	5	128977572	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1233154	128977572	51937688	578	93690											
RAPGEF6	51735	broad.mit.edu	37	chr5	130897705	130897705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggctctaatacaagacaaTcacatcctctttttcctcca	3	13	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:130897705T>C	uc003kvn.1	-	5	523	c.317A>G	c.(316-318)GAT>GGT	p.D106G	RAPGEF6_uc003kvp.1_Missense_Mutation_p.D156G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.D106G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.D106G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.D106G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.D106G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.D106G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	106					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TACAAGACAATCACATCCTCT	0.279													C	130897705	T	C	130897705	3	2	172	1	0	0	0	0	1	0	0	0	13048	1435	50	3	5070	3	RAPGEF6	5	130897705	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1920133	130897705	50017555	579	93691											
AFF4	27125	broad.mit.edu	37	chr5	132216839	132216839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatgcttgcattaaagAtgagagggcccattacttta	9	7	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:132216839A>C	uc003kyd.2	-	21	3812	c.3404T>G	c.(3403-3405)ATC>AGC	p.I1135S	AFF4_uc011cxk.1_Missense_Mutation_p.I813S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	1135					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTAAAGATGAGAGGGCC	0.383													C	132216839	A	C	132216839	3	2	172	1	0	0	0	0	1	0	0	0	359	333	12	5	91	5	AFF4	5	132216839	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1319134	132216839	48698421	580	93692											
HSPA4	3308	broad.mit.edu	37	chr5	132424849	132424849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctccagctgaagaagggTcaaggtatcatgtttattaa	9	6	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:132424849T>C	uc003kyj.2	+	10	1521	c.1240T>C	c.(1240-1242)TCA>CCA	p.S414P		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	414					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAGAAGGGTCAAGGTATCA	0.328													C	132424849	T	C	132424849	3	2	172	1	0	0	0	0	1	0	0	0	7412	1667	58	3	1278	3	HSPA4	5	132424849	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	208010	132424849	48490411	581	93693											
PHF15	23338	broad.mit.edu	37	chr5	133914438	133914438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgcacccgcctgcctGccaagaagaaaccaccacca	9	18	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:133914438G>A	uc003kzo.1	+	11	1983	c.1804G>A	c.(1804-1806)GCC>ACC	p.A602T	PHF15_uc011cxt.1_Missense_Mutation_p.A646T|PHF15_uc003kzk.2_Missense_Mutation_p.A662T|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Missense_Mutation_p.A603T|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	602	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGCCTGCCTGCCAAGAAGAA	0.657													A	133914438	G	A	133914438	3	1	172	1	0	0	0	0	1	0	0	0	11826	1319	46	2	1842	2	PHF15	5	133914438	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1489589	133914438	47000822	582	93694											
IK	3550	broad.mit.edu	37	chr5	140032593	140032594	+	Frame_Shift_Ins	INS	-	-	GA													gctacgccaacaagaaattgINSagagagagagagagctagca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140032592_140032593T>TGA	uc003lgq.3	+	4	377_378	c.267_268T>TGA	c.(265-270)attgagfs	p.I89fs	IK_uc011czk.1_Frame_Shift_Ins_p.I89fs|IK_uc021yen.1_Frame_Shift_Ins_p.I30fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	89					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)			AACAAGAAATTGAGAGAGAGAG	0.465													GA	140032594	-	GA	140032593	7	5	172	1	0	1	1	0	0	0	0	0	7608	1291	45	0	286	0	IK	5	140032593	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	6118155	140032593	40882667	583	93695											
DND1	373863	broad.mit.edu	37	chr5	140052333	140052333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctgtagcgggcataggCgaagccgcggttcaggccgc	17	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140052333C>T	uc003lgt.2	-	3	345	c.301G>A	c.(301-303)GCC>ACC	p.A101T		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	101	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCATAGGCGAAGCCGCGG	0.692													T	140052333	C	T	140052333	3	4	172	1	0	0	0	0	1	0	0	0	4666	768	27	1	768	1	DND1	5	140052333	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	19740	140052333	40862927	584	93696											
PCDHA1	56147	broad.mit.edu	37	chr5	140167327	140167327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgcgggacgcggacgcGcaggagaacgcgctggtgtc	18	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140167327G>A	uc003lhb.2	+	1	1452	c.1452G>A	c.(1450-1452)GCG>GCA	p.A484A	PCDHA1_uc003lha.2_Silent_p.A484A|PCDHA1_uc003lgz.2_Silent_p.A484A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662													A	140167327	G	A	140167327	2	1	172	1	0	0	0	0	0	0	0	1	11519	1074	38	1		1	PCDHA1	5	140167327	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	114994	140167327	40747933	585	93697											
PCDHA1	56147	broad.mit.edu	37	chr5	140167916	140167916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccaaaggcgtcttcgCgggcgtcggtgggtgtcgcg	19	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140167916C>T	uc003lhb.2	+	1	2041	c.2041C>T	c.(2041-2043)CGG>TGG	p.R681W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R681W	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	681	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTCTTCGCGGGCGTCGGT	0.657													T	140167916	C	T	140167916	3	4	172	1	0	0	0	0	1	0	0	0	11519	759	27	1	2043	1	PCDHA1	5	140167916	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	589	140167916	40747344	586	93698											
PCDHA8	56140	broad.mit.edu	37	chr5	140222665	140222665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccgcggtctgtgggcGcgggccacgtggtagcgaag	20	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140222665G>A	uc003lhs.2	+	1	1759	c.1759G>A	c.(1759-1761)GCG>ACG	p.A587T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A587T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	587	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGTGGGCGCGGGCCACGT	0.677													A	140222665	G	A	140222665	3	1	172	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1761	1	PCDHA8	5	140222665	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	54749	140222665	40692595	587	93699											
PCDHA8	56140	broad.mit.edu	37	chr5	140223022	140223022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatcatcgccatctgcGcggtatccagcctgctggtg	11	14	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140223022G>A	uc003lhs.2	+	1	2116	c.2116G>A	c.(2116-2118)GCG>ACG	p.A706T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A706T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTATCCAG	0.657													A	140223022	G	A	140223022	3	1	172	1	0	0	0	0	1	0	0	0	11530	1087	38	1	2118	1	PCDHA8	5	140223022	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	357	140223022	40692238	588	93700											
PCDHA11	56138	broad.mit.edu	37	chr5	140249146	140249146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaatcggactcgcgttttcCactagagggagcttctgatg	12	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140249146C>A	uc003lia.2	+	1	1316	c.458C>A	c.(457-459)CCA>CAA	p.P153Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P153Q	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	153	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTTTTCCACTAGAGGGA	0.443													A	140249146	C	A	140249146	3	1	172	1	0	0	0	0	1	0	0	0	11521	594	21	5	460	5	PCDHA11	5	140249146	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	26124	140249146	40666114	589	93701											
PCDHA12	56137	broad.mit.edu	37	chr5	140256640	140256640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgctagaccacgaggagcTggagctgctgcagttccagg	15	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140256640T>C	uc003lic.2	+	1	1710	c.1583T>C	c.(1582-1584)CTG>CCG	p.L528P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L528P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	528	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGAGCTGGAGCTGCTG	0.687													C	140256640	T	C	140256640	3	2	172	1	0	0	0	0	1	0	0	0	11522	1580	55	3	1585	3	PCDHA12	5	140256640	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	7494	140256640	40658620	590	93702											
PCDHA12	56137	broad.mit.edu	37	chr5	140256803	140256803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttagcgagttggtaccGcggtcggtgggtgcgggcca	19	9	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140256803G>A	uc003lic.2	+	1	1873	c.1746G>A	c.(1744-1746)CCG>CCA	p.P582P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P582P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	582	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGGTACCGCGGTCGGTGG	0.677													A	140256803	G	A	140256803	2	1	172	1	0	0	0	0	0	0	0	1	11522	1074	38	1		1	PCDHA12	5	140256803	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	163	140256803	40658457	591	93703											
PCDHB6	56130	broad.mit.edu	37	chr5	140531520	140531520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactcgcccttcgtgttgtAcccgctgcagaacggctccg	10	16	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140531520A>G	uc003lir.2	+	1	1682	c.1682A>G	c.(1681-1683)TAC>TGC	p.Y561C	PCDHB6_uc011dah.1_Missense_Mutation_p.Y425C	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	561	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGTGTTGTACCCGCTGCAG	0.726													G	140531520	A	G	140531520	3	3	172	1	0	0	0	0	1	0	0	0	11546	391	14	3	1684	3	PCDHB6	5	140531520	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	274717	140531520	40383740	592	93704											
PCDHB7	56129	broad.mit.edu	37	chr5	140554460	140554460	+	Missense_Mutation	SNP	A	A	G													aggcggccccggaccaggccAactcgctcaccgtctacctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140554460A>G	uc003lit.2	+	1	2218	c.2044A>G	c.(2044-2046)AAC>GAC	p.N682D	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	682	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCAGGCCAACTCGCTCAC	0.706													G	140554460	A	G	140554460	3	3	172	1	0	0	0	0	1	0	0	0	11547	130	5	3	2046	3	PCDHB7	5	140554460	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	22940	140554460	40360800	593	93705	457	2									
PCDHB7	56129	broad.mit.edu	37	chr5	140554465	140554465	+	Silent	SNP	G	G	T													gccccggaccaggccaactcGctcaccgtctacctggtggt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140554465G>T	uc003lit.2	+	1	2223	c.2049G>T	c.(2047-2049)TCG>TCT	p.S683S	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	683	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCAACTCGCTCACCGTCT	0.706													T	140554465	G	T	140554465	2	4	172	1	0	0	0	0	0	0	0	1	11547	1074	38	5		5	PCDHB7	5	140554465	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5	140554465	40360795	594	93706	457	2									
PCDHB7	56129	broad.mit.edu	37	chr5	140554522	140554522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgctcttcctcctctcGgtgctcctgttcgtggcggt	10	15	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140554522G>A	uc003lit.2	+	1	2280	c.2106G>A	c.(2104-2106)TCG>TCA	p.S702S	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	702	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCCTCTCGGTGCTCCTGT	0.701													A	140554522	G	A	140554522	2	1	172	1	0	0	0	0	0	0	0	1	11547	1103	39	1		1	PCDHB7	5	140554522	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	57	140554522	40360738	595	93707											
PCDHB8	56128	broad.mit.edu	37	chr5	140559519	140559519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctgctgagcgagcgcgAcgcggccaagcagaggctgg	18	12	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140559519A>G	uc011dai.1	+	1	2090	c.1904A>G	c.(1903-1905)GAC>GGC	p.D635G	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGAGCGCGACGCGGCCAAG	0.687													G	140559519	A	G	140559519	3	3	172	1	0	0	0	0	1	0	0	0	11548	275	10	3	1906	3	PCDHB8	5	140559519	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4997	140559519	40355741	596	93708											
PCDHB11	56125	broad.mit.edu	37	chr5	140581561	140581561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagggcatctggtggaCgtgagcggcaccgggaccct	15	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140581561C>T	uc003liy.2	+	1	2214	c.2214C>T	c.(2212-2214)GAC>GAT	p.D738D	PCDHB11_uc011daj.1_Silent_p.D373D	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	738	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.612													T	140581561	C	T	140581561	2	4	172	1	0	0	0	0	0	0	0	1	11536	535	19	1		1	PCDHB11	5	140581561	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	22042	140581561	40333699	597	93709											
PCDHB14	56122	broad.mit.edu	37	chr5	140605248	140605248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcggcctcggtgggtcGctgctcggtgcccgagggtc	19	13	0	0	rs142658705		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140605248G>A	uc003ljb.2	+	1	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB14_uc011dal.1_Missense_Mutation_p.R571H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTGCTCGGTG	0.662													A	140605248	G	A	140605248	3	1	172	1	0	0	0	0	1	0	0	0	11539	1087	38	1	2173	1	PCDHB14	5	140605248	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	23687	140605248	40310012	598	93710											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755541	140755541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggtgcgcacggcgcgcGccctgctggacagagacgcg	18	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140755541G>A	uc003ljy.1	+	1	1891	c.1891G>A	c.(1891-1893)GCC>ACC	p.A631T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.A631T	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	631	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCGCGCGCCCTGCTGGA	0.697													A	140755541	G	A	140755541	3	1	172	1	0	0	0	0	1	0	0	0	11558	1087	38	1	1893	1	PCDHGA6	5	140755541	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	150293	140755541	40159719	599	93711											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788117	140788117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaatcctttaaatatTtttcatgtcattgtggtgat	8	4	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140788117T>C	uc003lkj.1	+	1	348	c.348T>C	c.(346-348)ATT>ATC	p.I116I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.I116I	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	116	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTAAATATTTTTCATGTCA	0.373													C	140788117	T	C	140788117	2	2	172	1	0	0	0	0	0	0	0	1	11567	1829	64	3		3	PCDHGB6	5	140788117	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	32576	140788117	40127143	600	93712											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857618	140857618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccaggcagactctcacGgtcttgatcaaagacaatgg	9	12	4	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:140857618G>A	uc003lkv.1	+	1	2050	c.1935G>A	c.(1933-1935)ACG>ACA	p.T645T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.T645T|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	645	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCTCACGGTCTTGATCA	0.557											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140857618	G	A	140857618	2	1	172	1	0	0	0	0	0	0	0	1	11569	1103	39	1		1	PCDHGC3	5	140857618	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	69501	140857618	40057642	601	93713											
PCDH12	51294	broad.mit.edu	37	chr5	141331071	141331071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttacctgctgcctcctgGcttggccaagtacttatttc	8	13	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:141331071G>T	uc003llx.2	-	2	4176	c.2965C>A	c.(2965-2967)CCA>ACA	p.P989T		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	989	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCTCCTGGCTTGGCCAAG	0.567											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	141331071	G	T	141331071	3	4	172	1	0	0	0	0	1	0	0	0	11510	1203	42	5	601	5	PCDH12	5	141331071	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	473453	141331071	39584189	602	93714											
RNF14	9604	broad.mit.edu	37	chr5	141354463	141354463	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgaactgccaccagattaTccatcctcttccccaccttc	3	17	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:141354463T>A	uc003lly.2	+	3	288	c.249T>A	c.(247-249)TAT>TAA	p.Y83*	RNF14_uc003llz.2_Nonsense_Mutation_p.Y83*|RNF14_uc003lma.2_Nonsense_Mutation_p.Y83*|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Nonsense_Mutation_p.Y83*|RNF14_uc011dbg.1_Nonsense_Mutation_p.Y83*|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Nonsense_Mutation_p.Y83*	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	83	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				0		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)		CACCAGATTATCCATCCTCTT	0.413													A	141354463	T	A	141354463	4	1	172	1	0	0	0	0	0	1	0	0	13443	1442	50	5	255	5	RNF14	5	141354463	Nonsense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	23392	141354463	39560797	603	93715											
POU4F3	5459	broad.mit.edu	37	chr5	145719546	145719546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtggagtcagacccgcgcGagctggaagccttcgccgag	15	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:145719546G>A	uc003loa.2	+	2	645	c.556G>A	c.(556-558)GAG>AAG	p.E186K		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	186	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGACCCGCGCGAGCTGGAAGC	0.682													A	145719546	G	A	145719546	3	1	172	1	0	0	0	0	1	0	0	0	12280	1059	37	1	562	1	POU4F3	5	145719546	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4365083	145719546	35195714	604	93716											
STK32A	202374	broad.mit.edu	37	chr5	146750335	146750335	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcacttcttaaaaaggTaagaaggaagactgcatgtc	11	6	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:146750335T>C	uc010jgn.1	+	9	1057	c.777_splice	c.e9+2	p.K259_splice	STK32A_uc003lom.2_Splice_Site_p.K259_splice|STK32A_uc011dbw.1_Splice_Site_p.K259_splice	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1								ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTAAAAAGGTAAGAAGGAAG	0.418													C	146750335	T	C	146750335	5	2	172	1	0	0	0	0	0	0	1	0	15296	1652	57	3	842	3	STK32A	5	146750335	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1030789	146750335	34164925	605	93717											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687114	148687114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatatgtgccttcctgctgCggaaaaagcgtttcgggcag	14	9	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:148687114C>T	uc003lqh.2	+	7	816	c.685C>T	c.(685-687)CGG>TGG	p.R229W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R229W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R229W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	229	PH 1.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCTGCGGAAAAAGCG	0.632													T	148687114	C	T	148687114	3	4	172	1	0	0	0	0	1	0	0	0	354	759	27	1	711	1	AFAP1L1	5	148687114	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1936779	148687114	32228146	606	93718											
NDST1	3340	broad.mit.edu	37	chr5	149907475	149907475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagtccccgctgctctAcgtgacgcgacctagcgagg	11	17	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:149907475A>G	uc003lsk.3	+	3	1125	c.623A>G	c.(622-624)TAC>TGC	p.Y208C	NDST1_uc011dcj.1_Missense_Mutation_p.Y208C|NDST1_uc003lsl.2_Missense_Mutation_p.Y208C	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	208	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCTGCTCTACGTGACGCGA	0.607													G	149907475	A	G	149907475	3	3	172	1	0	0	0	0	1	0	0	0	10255	391	14	3	629	3	NDST1	5	149907475	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1220361	149907475	31007785	607	93719											
SYNPO	11346	broad.mit.edu	37	chr5	150029196	150029196	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggtaccagagtgggcCtcctgcctcaagtcaccccg	13	14	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150029196C>A	uc003lsn.2	+	3	2465	c.2091C>A	c.(2089-2091)GCC>GCA	p.A697A	SYNPO_uc003lso.3_Silent_p.A453A|SYNPO_uc003lsp.2_Silent_p.A453A	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	697					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			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGTGGGCCTCCTGCCTCA	0.687													A	150029196	C	A	150029196	2	1	172	1	0	0	0	0	0	0	0	1	15453	668	24	5		5	SYNPO	5	150029196	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	121721	150029196	30886064	608	93720											
SLC36A2	153201	broad.mit.edu	37	chr5	150696535	150696535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggctcatgccctctgagTagaacgtggtgacctccagg	15	11	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150696535T>C	uc003lty.2	-	10	1425	c.1295A>G	c.(1294-1296)TAC>TGC	p.Y432C	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.Y234C	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	432	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCTCTGAGTAGAACGTGGT	0.647													C	150696535	T	C	150696535	3	2	172	1	0	0	0	0	1	0	0	0	14594	1638	57	3	160	3	SLC36A2	5	150696535	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	667339	150696535	30218725	609	93721											
FAT2	2196	broad.mit.edu	37	chr5	150886794	150886795	+	Frame_Shift_Ins	INS	-	-	G													ccgcagctggcgggagtctgINSgggggcacactgcagaccac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150886793_150886794T>TG	uc003lue.4	-	21	12451_12452	c.12438_12439A>CA	c.(12436-12441)cccagafs	p.P4146fs	FAT2_uc003lud.4_Frame_Shift_Ins_p.P753fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4146					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)			GGCGGGAGTCTGGGGGGCACAC	0.559													G	150886795	-	G	150886794	7	5	172	1	0	1	1	0	0	0	0	0	5690	1335	47	0	619	0	FAT2	5	150886794	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	190259	150886794	30028466	610	93722											
FAT2	2196	broad.mit.edu	37	chr5	150948143	150948143	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtggcttggatgatgAgggtgtagctgtctcgcacc	14	9	2	2	rs34180611		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:150948143A>C	uc003lue.3	-	1	363	c.350T>G	c.(349-351)CTC>CGC	p.L117R	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L117R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	117	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGATGATGAGGGTGTAGCT	0.512													C	150948143	A	C	150948143	3	2	172	1	0	0	0	0	1	0	0	0	5690	304	11	5	12791	5	FAT2	5	150948143	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	61349	150948143	29967117	611	93723											
GALNT10	55568	broad.mit.edu	37	chr5	153674402	153674403	+	Frame_Shift_Ins	INS	-	-	T													acagtcgacaaaagaaaacgINStttttcttgggagatgggca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:153674402_153674403insT	uc003lvh.2	+	2	318_319	c.186_187insT	c.(184-189)ACGTTTfs	p.T62fs	GALNT10_uc003lvg.1_Frame_Shift_Ins_p.T62fs|GALNT10_uc010jic.2_RNA	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	62_63	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	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)			AAAAGAAAACGTTTTTCTTGGG	0.495													T	153674403	-	T	153674402	7	5	172	1	0	1	1	0	0	0	0	0	6208	1132	40	0	192	0	GALNT10	5	153674402	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2726259	153674402	27240858	612	93724	458	2									
GALNT10	55568	broad.mit.edu	37	chr5	153674403	153674404	+	Frame_Shift_Ins	INS	-	-	T													cagtcgacaaaagaaaacgtINSttttcttgggagatgggcag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:153674402_153674403G>GT	uc003lvh.3	+	1	318_319	c.186_187G>GT	c.(184-189)acgtttfs	p.T62fs	GALNT10_uc003lvg.1_Frame_Shift_Ins_p.T62fs|GALNT10_uc010jic.3_Non-coding_Transcript	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	62						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)			AAAAGAAAACGTTTTTCTTGGG	0.495													T	153674404	-	T	153674403	7	5	172	1	0	1	1	0	0	0	0	0	6208	1725	60	0	193	0	GALNT10	5	153674403	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	153674403	27240857	613	93725	458	2									
GABRG2	2566	broad.mit.edu	37	chr5	161522524	161522524	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccaacgttaattcacacaGacatgtatgtgaatagcatt	7	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:161522524G>A	uc003lyz.3	+	3	641	c.283G>A	c.(283-285)GAC>AAC	p.D95N	GABRG2_uc010jjc.2_Missense_Mutation_p.D95N|GABRG2_uc003lyy.3_Missense_Mutation_p.D95N|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	95	Extracellular (Probable).				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			ovary(4)|skin(1)	5	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)		AATTCACACAGACATGTATGT	0.328													A	161522524	G	A	161522524	3	1	172	1	0	0	0	0	1	0	0	0	6172	942	33	4	293	4	GABRG2	5	161522524	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	7848121	161522524	19392736	614	93726											
CCDC99	54908	broad.mit.edu	37	chr5	169023668	169023669	+	Missense_Mutation	DNP	AT	AT	GC													gaagaatggtgaaataaaacAtcttttaggtgaaattagaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:169023668_169023669AT>GC	uc003mae.3	+	8	1274_1275	c.995_996AT>GC	c.(994-996)CAT>CGC	p.H332R	CCDC99_uc010jjj.2_Missense_Mutation_p.H261R|CCDC99_uc011deq.1_Missense_Mutation_p.H149R|CCDC99_uc010jjk.2_Missense_Mutation_p.H58R	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	332	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAATAAAACATCTTTTAGGTG	0.337													GC	169023669	AT	GC	169023668	3	3	172	1	0	0	0	0	1	0	0	0	2876	217	8	3	1021	3	CCDC99	5	169023668	Missense_Mutation	DNP	AT	TCGA-CG-4442-01A-01D-1158-08	7501144	169023668	11891592	615	93727											
TLX3	30012	broad.mit.edu	37	chr5	170736470	170736470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccaggacagcgcacccgCcccgcggggccccgacggcg	16	19	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:170736470C>T	uc003mbf.2	+	1	183	c.101C>T	c.(100-102)GCC>GTC	p.A34V	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCGCACCCGCCCCGCGGGGC	0.756			T	BCL11B	T-ALL								T	170736470	C	T	170736470	3	4	172	1	0	0	0	0	1	0	0	0	15959	739	26	2	103	2	TLX3	5	170736470	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1712802	170736470	10178790	616	93728											
STC2	8614	broad.mit.edu	37	chr5	172750372	172750372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttccggcttatgcagCcgaacctgtgccgcagagcg	13	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:172750372C>T	uc003mco.1	-	3	1666	c.356G>A	c.(355-357)GGC>GAC	p.G119D	STC2_uc003mcn.1_Missense_Mutation_p.G34D	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	119					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	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)			GCTTATGCAGCCGAACCTGTG	0.602													T	172750372	C	T	172750372	3	4	172	1	0	0	0	0	1	0	0	0	15275	739	26	2	560	2	STC2	5	172750372	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2013902	172750372	8164888	617	93729											
FAF2	23197	broad.mit.edu	37	chr5	175923649	175923649	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaccagacttacctggtgtCagaacgcctagaaaggtaca	9	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:175923649C>T	uc003mej.3	+	8	877	c.824C>T	c.(823-825)TCA>TTA	p.S275L		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	275	Potential.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						TACCTGGTGTCAGAACGCCTA	0.488													T	175923649	C	T	175923649	3	4	172	1	0	0	0	0	1	0	0	0	5370	838	29	4	854	4	FAF2	5	175923649	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3173277	175923649	4991611	618	93730											
NSD1	64324	broad.mit.edu	37	chr5	176638979	176638979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagggtcttacttcctagTgaccctgtgcaggaggggcg	14	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176638979T>C	uc003mfr.3	+	5	3717	c.3579T>C	c.(3577-3579)AGT>AGC	p.S1193S	NSD1_uc003mft.3_Silent_p.S924S|NSD1_uc003mfs.1_Silent_p.S1090S|NSD1_uc011dfx.1_Silent_p.S841S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1193					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			ovary(2)|kidney(1)	3	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)		TACTTCCTAGTGACCCTGTGC	0.478			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			C	176638979	T	C	176638979	2	2	172	1	0	0	0	0	0	0	0	1	10669	1693	59	3		3	NSD1	5	176638979	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	715330	176638979	4276281	619	93731											
NSD1	64324	broad.mit.edu	37	chr5	176673750	176673750	+	Frame_Shift_Del	DEL	A	A	-													ctgcagccaagatgcagtgtAaaaaagtgaaaaatgatgac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176673750delA	uc003mfr.3	+	10	4588	c.4450delA	c.(4450-4452)AAAfs	p.K1484fs	NSD1_uc003mft.3_Frame_Shift_Del_p.K1215fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.K1381fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.K1132fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1484					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			ovary(2)|kidney(1)	3	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)		GATGCAGTGTAAAAAAGTGAA	0.418			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			-	176673750	A	-	176673750	7	5	172	1	0	1	0	1	0	0	0	0	10669	363	13	0	4484	0	NSD1	5	176673750	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	34771	176673750	4241510	620	93732											
DBN1	1627	broad.mit.edu	37	chr5	176885163	176885163	+	Frame_Shift_Del	DEL	G	G	-													tgagggcagagttggggtctGgggggcagccagggactccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176885163delG	uc003mgy.2	-	12	1844	c.1672delC	c.(1672-1674)CAGfs	p.Q558fs	DBN1_uc011dga.1_Frame_Shift_Del_p.Q290fs|DBN1_uc003mgx.2_Frame_Shift_Del_p.Q560fs|DBN1_uc010jkn.1_Frame_Shift_Del_p.Q508fs|DBN1_uc003mgz.1_Frame_Shift_Del_p.Q541fs	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	558					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	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)			GTTGGGGTCTGGGGGGCAGCC	0.637													-	176885163	G	-	176885163	7	5	172	1	0	1	0	1	0	0	0	0	4252	1357	47	0	289	0	DBN1	5	176885163	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	211413	176885163	4030097	621	93733											
PDLIM7	9260	broad.mit.edu	37	chr5	176919648	176919648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcacccacggccactcCggcctgcgccgctttgcccc	9	22	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:176919648C>T	uc003mhc.1	-	3	212	c.127G>A	c.(127-129)GGA>AGA	p.G43R	PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhb.1_Missense_Mutation_p.G43R|PDLIM7_uc003mhd.1_5'UTR|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.G43R|PDLIM7_uc003mhg.1_Missense_Mutation_p.G43R	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	43	PDZ.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	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)			ACGGCCACTCCGGCCTGCGCC	0.642													T	176919648	C	T	176919648	3	4	172	1	0	0	0	0	1	0	0	0	11684	661	23	1	1412	1	PDLIM7	5	176919648	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	34485	176919648	3995612	622	93734											
ZNF354A	6940	broad.mit.edu	37	chr5	178152390	178152390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttacctagagaggagacGccagaaccgtctttctccac	8	14	2	3	rs113512483	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:178152390G>A	uc003mjj.2	-	4	441	c.243C>T	c.(241-243)GGC>GGT	p.G81G		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	81	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		GAGAGGAGACGCCAGAACCGT	0.522													A	178152390	G	A	178152390	2	1	172	1	0	0	0	0	0	0	0	1	17861	1074	38	1		1	ZNF354A	5	178152390	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1232742	178152390	2762870	623	93735											
TBC1D9B	23061	broad.mit.edu	37	chr5	179321503	179321503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtaattcaccagcttctCgccctcaggcatcccaaact	6	15	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:179321503C>T	uc003mlh.2	-	4	497	c.460G>A	c.(460-462)GAG>AAG	p.E154K	TBC1D9B_uc003mli.2_Missense_Mutation_p.E154K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E154K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	154	GRAM 1.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)			ACCAGCTTCTCGCCCTCAGGC	0.592													T	179321503	C	T	179321503	3	4	172	1	0	0	0	0	1	0	0	0	15625	893	31	1	3368	1	TBC1D9B	5	179321503	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1169113	179321503	1593757	624	93736											
CNOT6	57472	broad.mit.edu	37	chr5	179994114	179994114	+	Frame_Shift_Del	DEL	T	T	-													gaaacggaacagtattacagTttttttctggtagagctgaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:179994114delT	uc003mlx.2	+	8	1093	c.744delT	c.(742-744)AGTfs	p.S248fs	CNOT6_uc010jld.2_Frame_Shift_Del_p.S248fs|CNOT6_uc010jle.2_Frame_Shift_Del_p.S243fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	248					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				0	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)		AGTATTACAGTTTTTTTCTGG	0.348													-	179994114	T	-	179994114	7	5	172	1	0	1	0	1	0	0	0	0	3622	1722	60	0	770	0	CNOT6	5	179994114	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	672611	179994114	921146	625	93737											
FLT4	2324	broad.mit.edu	37	chr5	180057235	180057235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgtaccgagcgcagcGtgacattgaggccggggatg	19	10	0	2	rs148392893		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:180057235G>A	uc003mma.3	-	4	582	c.503C>T	c.(502-504)ACG>ATG	p.T168M	FLT4_uc003mlz.3_Missense_Mutation_p.T168M|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.T168M|FLT4_uc011dgz.1_Missense_Mutation_p.T168M|FLT4_uc011dha.1_Missense_Mutation_p.R152C	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	168	Ig-like C2-type 2.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	CGAGCGCAGCGTGACATTGAG	0.642									Congenital_Hereditary_Lymphedema				A	180057235	G	A	180057235	3	1	172	1	0	0	0	0	1	0	0	0	5944	1145	40	1	3704	1	FLT4	5	180057235	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	63121	180057235	858025	626	93738											
BTNL8	79908	broad.mit.edu	37	chr5	180338563	180338563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagcatatcctgttccAtgcggcatgctcatctgagc	11	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr5:180338563A>G	uc003mmp.2	+	3	856	c.622A>G	c.(622-624)ATG>GTG	p.M208V	BTNL8_uc003mmq.2_Missense_Mutation_p.M208V|BTNL8_uc011dhg.1_Missense_Mutation_p.M83V|BTNL8_uc010jll.2_Missense_Mutation_p.M208V|BTNL8_uc010jlm.2_Missense_Mutation_p.M92V|BTNL8_uc011dhh.1_Missense_Mutation_p.M24V	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	208	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	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)			ATCCTGTTCCATGCGGCATGC	0.542													G	180338563	A	G	180338563	3	3	172	1	0	0	0	0	1	0	0	0	1567	217	8	3	658	3	BTNL8	5	180338563	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	281328	180338563	576697	627	93739											
RREB1	6239	broad.mit.edu	37	chr6	7226755	7226755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggactgctgcgtcacaacGcgcttgtccacaaacaactt	9	13	1	0	rs138181401	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:7226755G>A	uc003mxc.2	+	9	1153	c.763G>A	c.(763-765)GCG>ACG	p.A255T	RREB1_uc003mxb.2_Missense_Mutation_p.A255T|RREB1_uc010jnx.2_Missense_Mutation_p.A255T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	255	C2H2-type 5.				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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCGTCACAACGCGCTTGTCCA	0.493													A	7226755	G	A	7226755	3	1	172	1	0	0	0	0	1	0	0	0	13679	1087	38	1	785	1	RREB1	6	7226755	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08		7226755	163888312	628	93740											
DSP	1832	broad.mit.edu	37	chr6	7558359	7558359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcaggaattgaagtAtggagatggaatacaactga	10	4	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:7558359A>T	uc003mxp.1	+	3	563	c.284A>T	c.(283-285)TAT>TTT	p.Y95F	DSP_uc003mxq.1_Missense_Mutation_p.Y95F	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	95	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			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAATTGAAGTATGGAGATGGA	0.428													T	7558359	A	T	7558359	3	4	172	1	0	0	0	0	1	0	0	0	4781	449	16	5	294	5	DSP	6	7558359	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	331604	7558359	163556708	629	93741											
PHACTR1	221692	broad.mit.edu	37	chr6	13230285	13230285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctccctggccatgaaGgtctgcaggaaggactcctt	12	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:13230285G>A	uc010jpc.2	+	10	1583	c.1251G>A	c.(1249-1251)AAG>AAA	p.K417K	PHACTR1_uc011dir.1_Silent_p.K486K|PHACTR1_uc003nag.1_Silent_p.K417K|PHACTR1_uc003nah.1_Silent_p.K417K	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	417						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGGCCATGAAGGTCTGCAGGA	0.532													A	13230285	G	A	13230285	2	1	172	1	0	0	0	0	0	0	0	1	11809	991	35	4		4	PHACTR1	6	13230285	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5671926	13230285	157884782	630	93742											
GFOD1	54438	broad.mit.edu	37	chr6	13365589	13365589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacggccttttggccggtgaGgaaggtgagcaggtcgatga	18	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:13365589G>T	uc003nat.1	-	2	1224	c.559C>A	c.(559-561)CTC>ATC	p.L187I	GFOD1_uc003nas.1_Missense_Mutation_p.L84I	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	187						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGGCCGGTGAGGAAGGTGAGC	0.602													T	13365589	G	T	13365589	3	4	172	1	0	0	0	0	1	0	0	0	6343	1000	35	5	617	5	GFOD1	6	13365589	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	135304	13365589	157749478	631	93743											
JARID2	3720	broad.mit.edu	37	chr6	15508639	15508639	+	Frame_Shift_Del	DEL	C	C	-													gctggtctcgagaccaaaatCaccttccatacattgactac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:15508639delC	uc003nbj.2	+	12	3044	c.2800delC	c.(2800-2802)CACfs	p.H934fs	JARID2_uc011div.1_Frame_Shift_Del_p.H762fs|JARID2_uc011diw.1_Frame_Shift_Del_p.H896fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	934	JmjC.				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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGACCAAAATCACCTTCCATA	0.458													-	15508639	C	-	15508639	7	5	172	1	0	1	0	1	0	0	0	0	7945	826	29	0	2846	0	JARID2	6	15508639	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	2143050	15508639	155606428	632	93744											
KIF13A	63971	broad.mit.edu	37	chr6	17764503	17764503	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctctccagcagaagaAtctgtcaaaccatcaaaatc	6	11	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:17764503A>T	uc003ncg.3	-	39	5361	c.5256T>A	c.(5254-5256)GAT>GAA	p.D1752E	KIF13A_uc003ncf.2_Missense_Mutation_p.D1704E|KIF13A_uc003nch.3_Missense_Mutation_p.D1717E|KIF13A_uc003nci.3_Missense_Mutation_p.D1704E|KIF13A_uc003nce.1_Missense_Mutation_p.D303E	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1752					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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGCAGAAGAATCTGTCAAAC	0.493													T	17764503	A	T	17764503	3	4	172	1	0	0	0	0	1	0	0	0	8274	98	4	5	190	5	KIF13A	6	17764503	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2255864	17764503	153350564	633	93745											
KIF13A	63971	broad.mit.edu	37	chr6	17764689	17764689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcctgcacagtgatttGgagtttttctcagggatgct	11	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:17764689G>A	uc003ncg.3	-	39	5175	c.5070C>T	c.(5068-5070)TCC>TCT	p.S1690S	KIF13A_uc003ncf.2_Silent_p.S1642S|KIF13A_uc003nch.3_Silent_p.S1655S|KIF13A_uc003nci.3_Silent_p.S1642S|KIF13A_uc003nce.1_Silent_p.S241S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1690					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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACAGTGATTTGGAGTTTTTCT	0.522													A	17764689	G	A	17764689	2	1	172	1	0	0	0	0	0	0	0	1	8274	1335	47	4		4	KIF13A	6	17764689	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	186	17764689	153350378	634	93746											
NHLRC1	378884	broad.mit.edu	37	chr6	18122645	18122645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaatgggcactcgagggCcagagtgcgcgggtgcgcca	18	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:18122645C>T	uc003ncl.1	-	1	207	c.193G>A	c.(193-195)GCC>ACC	p.A65T		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	65	RING-type.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CACTCGAGGGCCAGAGTGCGC	0.716													T	18122645	C	T	18122645	3	4	172	1	0	0	0	0	1	0	0	0	10405	739	26	2	998	2	NHLRC1	6	18122645	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	357956	18122645	152992422	635	93747											
KDM1B	221656	broad.mit.edu	37	chr6	18208394	18208394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattattctggagatgaagTgcaggttaccactacagatg	11	6	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:18208394T>C	uc003nco.1	+	10	1289	c.1214T>C	c.(1213-1215)GTG>GCG	p.V405A	KDM1B_uc003ncn.1_Missense_Mutation_p.V376A	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	amine oxidase (flavin containing) domain 1	608					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			skin(1)	1						GGAGATGAAGTGCAGGTTACC	0.468													C	18208394	T	C	18208394	3	2	172	1	0	0	0	0	1	0	0	0	8123	1696	59	3	1169	3	KDM1B	6	18208394	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	85749	18208394	152906673	636	93748											
TDP2	51567	broad.mit.edu	37	chr6	24651211	24651211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattagagttcatttgtgtAtcccatgtatactggcaatg	9	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:24651211A>G	uc003nej.2	-	7	919	c.894T>C	c.(892-894)GAT>GAC	p.D298D	TDP2_uc003nei.2_Silent_p.D186D	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	298					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						TCATTTGTGTATCCCATGTAT	0.408								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	24651211	A	G	24651211	2	3	172	1	0	0	0	0	0	0	0	1	15726	446	16	3		3	TDP2	6	24651211	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6442817	24651211	146463856	637	93749											
HIST1H4A	8359	broad.mit.edu	37	chr6	26022123	26022123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatccgtgacgctgtcaccTatacggagcacgccaagcgc	11	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:26022123T>C	uc003nfq.2	+	1	217	c.217T>C	c.(217-219)TAT>CAT	p.Y73H		NM_003538	NP_003529	P62805	H4_HUMAN	histone cluster 1, H4a	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0						CGCTGTCACCTATACGGAGCA	0.587													C	26022123	T	C	26022123	3	2	172	1	0	0	0	0	1	0	0	0	7165	1522	53	3	219	3	HIST1H4A	6	26022123	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1370912	26022123	145092944	638	93750											
HIST1H4G	8369	broad.mit.edu	37	chr6	26246947	26246947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttgagcacgtagaccaCggccatggcggtgaccgtct	14	12	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:26246947C>T	uc003nhf.2	-	1	259	c.259G>A	c.(259-261)GTG>ATG	p.V87M		NM_003547	NP_003538	Q99525	H4G_HUMAN	histone cluster 1, H4g	87					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACGTAGACCACGGCCATGGCG	0.572													T	26246947	C	T	26246947	3	4	172	1	0	0	0	0	1	0	0	0	7171	536	19	1	41	1	HIST1H4G	6	26246947	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	224824	26246947	144868120	639	93751											
ABT1	29777	broad.mit.edu	37	chr6	26598259	26598259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaagcgcatagccaagcGcgtggcggccagtctacaca	12	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:26598259G>A	uc003nii.2	+	2	390	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	120	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						ATAGCCAAGCGCGTGGCGGCC	0.567													A	26598259	G	A	26598259	3	1	172	1	0	0	0	0	1	0	0	0	101	1087	38	1	365	1	ABT1	6	26598259	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	351312	26598259	144516808	640	93752											
HIST1H4I	8294	broad.mit.edu	37	chr6	27107159	27107159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaccgcaaggtgctgcgCgacaacatccagggtatcac	11	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:27107159C>T	uc003niy.1	+	1	72	c.72C>T	c.(70-72)CGC>CGT	p.R24R	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	24					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						AGGTGCTGCGCGACAACATCC	0.617			T	BCL6	NHL								T	27107159	C	T	27107159	2	4	172	1	0	0	0	0	0	0	0	1	7173	755	27	1		1	HIST1H4I	6	27107159	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	508900	27107159	144007908	641	93753											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114460	27114460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccttgtacacgtataCggagtagctctccttgcggc	10	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:27114460C>T	uc003nix.1	-	1	160	c.118G>A	c.(118-120)GTA>ATA	p.V40I	HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	40					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						TACACGTATACGGAGTAGCTC	0.582													T	27114460	C	T	27114460	3	4	172	1	0	0	0	0	1	0	0	0	7150	536	19	1	266	1	HIST1H2BK	6	27114460	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	7301	27114460	144000607	642	93754											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333883	28333883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgaaactcccatgtctTataaatgtaatgagtgtgaa	8	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:28333883T>C	uc003nle.3	+	6	1654	c.1438T>C	c.(1438-1440)TAT>CAT	p.Y480H	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.Y480H|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.Y332H|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	480	C2H2-type 6.				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			skin(2)	2						TCCCATGTCTTATAAATGTAA	0.418													C	28333883	T	C	28333883	3	2	172	1	0	0	0	0	1	0	0	0	17685	1754	61	3	1456	3	ZKSCAN3	6	28333883	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1219423	28333883	142781184	643	93755											
SCAND3	114821	broad.mit.edu	37	chr6	28540949	28540949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttagcaatatctctgCattcatcaagttgcaatgaa	6	8	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:28540949C>T	uc003nlo.2	-	4	3335	c.2717G>A	c.(2716-2718)TGC>TAC	p.C906Y		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	906					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						aatatctctgcattcatcaag	0													T	28540949	C	T	28540949	3	4	172	1	0	0	0	0	1	0	0	0	13876	710	25	2	1264	2	SCAND3	6	28540949	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	207066	28540949	142574118	644	93756											
OR14J1	442191	broad.mit.edu	37	chr6	29274633	29274633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgtcgtctccattcccCcatgtattactttttaaagc	6	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:29274633C>A	uc011dln.1	+	1	167	c.167C>A	c.(166-168)CCC>CAC	p.P56H		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCCATTCCCCCATGTATTAC	0.468													A	29274633	C	A	29274633	3	1	172	1	0	0	0	0	1	0	0	0	10948	623	22	5	169	5	OR14J1	6	29274633	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	733684	29274633	141840434	645	93757											
TRIM39	56658	broad.mit.edu	37	chr6	30297302	30297302	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttcccttgtcctgtctgtCgaaagacatcccgctaccgc	7	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:30297302C>T	uc010jrz.2	+	3	520	c.208C>T	c.(208-210)CGA>TGA	p.R70*	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Nonsense_Mutation_p.R70*|TRIM39_uc003nqb.2_Nonsense_Mutation_p.R70*|TRIM39_uc003nqc.2_Nonsense_Mutation_p.R70*|TRIM39_uc010jsa.1_Nonsense_Mutation_p.R70*	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	70	RING-type.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						TCCTGTCTGTCGAAAGACATC	0.557													T	30297302	C	T	30297302	4	4	172	1	0	0	0	0	0	1	0	0	16510	876	31	1	210	1	TRIM39	6	30297302	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1022669	30297302	140817765	646	93758											
HLA-E	3133	broad.mit.edu	37	chr6	30459108	30459108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagaagtgggcagctgtgGtggtgccttctggagaggag	18	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:30459108G>T	uc003nqg.2	+	4	843	c.805G>T	c.(805-807)GTG>TTG	p.V269L	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.V310L	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	269	Ig-like C1-type.|Alpha-3.|Extracellular (Potential).				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			central_nervous_system(4)|ovary(1)	5						GGCAGCTGTGGTGGTGCCTTC	0.627													T	30459108	G	T	30459108	3	4	172	1	0	0	0	0	1	0	0	0	7210	1261	44	5	819	5	HLA-E	6	30459108	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	161806	30459108	140655959	647	93759											
PSORS1C2	170680	broad.mit.edu	37	chr6	31105997	31105997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggtcaccggggactgGggggccctgaggcaatgttg	18	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31105997G>T	uc003nso.3	-	2	466	c.142C>A	c.(142-144)CCA>ACA	p.P48T	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN	SPR1 protein precursor	48						extracellular region					0						CCGGGGACTGGGGGGCCCTGA	0.657													T	31105997	G	T	31105997	3	4	172	1	0	0	0	0	1	0	0	0	12715	1232	43	5	272	5	PSORS1C2	6	31105997	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	646889	31105997	140009070	648	93760											
HLA-C	3107	broad.mit.edu	37	chr6	31323363	31323363	+	Frame_Shift_Del	DEL	G	G	-													ggtgggtcacgtgtgtctttGgggggtctgatgggaagagt					rs77061046		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31323362_31323362TG>T	uc003nth.2	-	3	681	c.627_627CA>A	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	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	MHC class I protein complex|integral to membrane				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						CGTGTGTCTTTGGGGGGTCTG	0.577													-	31323363	G	-	31323363	7	5	172	1	0	1	0	1	0	0	0	0	7197	1348	47	0		0	HLA-C	6	31323363	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	217366	31323363	139791704	649	93761											
SLC44A4	80736	broad.mit.edu	37	chr6	31838664	31838664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagctgggagatggaggCgcccttgtcccgcagcactc	13	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31838664C>T	uc010jti.2	-	10	928	c.862G>A	c.(862-864)GCC>ACC	p.A288T	SLC44A4_uc011dol.1_Missense_Mutation_p.A212T|SLC44A4_uc011dom.1_Missense_Mutation_p.A246T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	288	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GAGATGGAGGCGCCCTTGTCC	0.657													T	31838664	C	T	31838664	3	4	172	1	0	0	0	0	1	0	0	0	14638	768	27	1	1318	1	SLC44A4	6	31838664	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	515301	31838664	139276403	650	93762											
SLC44A4	80736	broad.mit.edu	37	chr6	31838702	31838702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtactcctcccagcagTagtagatgccgtatgccagc	10	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31838702T>C	uc010jti.2	-	10	890	c.824A>G	c.(823-825)TAC>TGC	p.Y275C	SLC44A4_uc011dol.1_Missense_Mutation_p.Y199C|SLC44A4_uc011dom.1_Missense_Mutation_p.Y233C	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	275	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CTCCCAGCAGTAGTAGATGCC	0.617													C	31838702	T	C	31838702	3	2	172	1	0	0	0	0	1	0	0	0	14638	1638	57	3	1356	3	SLC44A4	6	31838702	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	38	31838702	139276365	651	93763											
CFB	629	broad.mit.edu	37	chr6	31916154	31916154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcctcacccacaggtgGcaagttatggtgtgaagcca	11	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31916154G>A	uc003nyj.3	+	7	1179	c.901G>A	c.(901-903)GCA>ACA	p.A301T	CFB_uc011dor.1_Missense_Mutation_p.A803T|CFB_uc003nyi.2_Missense_Mutation_p.A301T	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	301	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CCCACAGGTGGCAAGTTATGG	0.473													A	31916154	G	A	31916154	3	1	172	1	0	0	0	0	1	0	0	0	3278	1203	42	2	927	2	CFB	6	31916154	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	77452	31916154	139198913	652	93764											
SKIV2L	6499	broad.mit.edu	37	chr6	31934881	31934881	+	Frame_Shift_Del	DEL	G	G	-													cctgcctgaatattacagctGgggggaggaactgacagaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:31934880_31934880TG>T	uc003nyn.1	+	19	2829	c.2440_2440TG>T	c.(2440-2442)tggfs	p.W814fs	SKIV2L_uc011dou.1_Frame_Shift_Del_p.W656fs|SKIV2L_uc011dov.1_Frame_Shift_Del_p.W621fs	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	814						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATATTACAGCTGGGGGGAGGA	0.552													-	31934881	G	-	31934881	7	5	172	1	0	1	0	1	0	0	0	0	14359	1357	47	0	2519	0	SKIV2L	6	31934881	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	18727	31934881	139180186	653	93765											
TNXB	7148	broad.mit.edu	37	chr6	32015707	32015707	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgaattcgccctcagggacCgtccacgagaggcccacgga	12	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:32015707C>A	uc003nzl.2	-	30	10324	c.10122G>T	c.(10120-10122)ACG>ACT	p.T3374T	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3421	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCTCAGGGACCGTCCACGAGA	0.632													A	32015707	C	A	32015707	2	1	172	1	0	0	0	0	0	0	0	1	16343	639	23	5		5	TNXB	6	32015707	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	80826	32015707	139099360	654	93766											
TAP2	6891	broad.mit.edu	37	chr6	32805788	32805788	+	Frame_Shift_Del	DEL	G	G	-													ggctctcagggagacagtcaGgggggtggccagacagagcg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:32805788delG	uc003occ.2	-	1	254	c.223delC	c.(223-225)CTGfs	p.L75fs	TAP2_uc011dqf.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.2_Frame_Shift_Del_p.L75fs	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	75	Helical; Name=2; (Potential).				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				0						GAGACAGTCAGGGGGGTGGCC	0.692													-	32805788	G	-	32805788	7	5	172	1	0	1	0	1	0	0	0	0	15548	991	35	0	1966	0	TAP2	6	32805788	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	790081	32805788	138309279	655	93767											
SLC39A7	7922	broad.mit.edu	37	chr6	33170162	33170162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcatggacatggacacGctcacagtcatacacgtgga	10	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:33170162G>A	uc003odf.2	+	5	874	c.757G>A	c.(757-759)GCT>ACT	p.A253T	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.A253T|SLC39A7_uc011dqv.1_Missense_Mutation_p.A128T|SLC39A7_uc003odh.2_5'UTR|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	253	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						ACATGGACACGCTCACAGTCA	0.493													A	33170162	G	A	33170162	3	1	172	1	0	0	0	0	1	0	0	0	14623	1087	38	1	771	1	SLC39A7	6	33170162	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	364374	33170162	137944905	656	93768											
STK38	11329	broad.mit.edu	37	chr6	36465583	36465584	+	Frame_Shift_Ins	INS	-	-	A													gttcccagtcaacgccttcaINSaaaaaagagttactttttat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:36465582_36465583C>CA	uc003omg.3	-	10	1734_1735	c.1146_1147G>TG	c.(1144-1149)tttgaafs	p.F382fs	STK38_uc003omh.3_Frame_Shift_Ins_p.F382fs|STK38_uc003omi.3_Frame_Shift_Ins_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAACGCCTTCAAAAAAAGAGT	0.366													A	36465584	-	A	36465583	7	5	172	1	0	1	1	0	0	0	0	0	15302	127	5	0	263	0	STK38	6	36465583	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	3295421	36465583	134649484	657	93769											
CPNE5	57699	broad.mit.edu	37	chr6	36710137	36710137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgggtgggggacgcgggcGaatgccctgtgccttcatgt	18	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:36710137G>A	uc003omr.1	-	21	1757	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C	CPNE5_uc003omp.1_Missense_Mutation_p.R272C|CPNE5_uc010jwn.1_Missense_Mutation_p.R214C|CPNE5_uc003omq.1_Missense_Mutation_p.R214C	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	564										skin(1)	1						GGACGCGGGCGAATGCCCTGT	0.687													A	36710137	G	A	36710137	3	1	172	1	0	0	0	0	1	0	0	0	3815	1058	37	1	95	1	CPNE5	6	36710137	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	244554	36710137	134404930	658	93770											
DNAH8	1769	broad.mit.edu	37	chr6	38885823	38885824	+	Frame_Shift_Ins	INS	-	-	A													attatacttttgaaagtgccINSaaaaaagtctgtgggaatgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:38885823_38885824insA	uc003ooe.1	+	68	10380_10381	c.9780_9781insA	c.(9778-9783)GCCAAAfs	p.A3260fs	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTGAAAGTGCCAAAAAAGTCTG	0.396													A	38885824	-	A	38885823	7	5	172	1	0	1	1	0	0	0	0	0	4607	581	21	0	10042	0	DNAH8	6	38885823	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2175686	38885823	132229244	659	93771	459	2									
DNAH8	1769	broad.mit.edu	37	chr6	38885824	38885825	+	Frame_Shift_Ins	INS	-	-	A													ttatacttttgaaagtgccaINSaaaaagtctgtgggaatgtg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:38885823_38885824C>CA	uc021yzh.1	+	69	10540_10541	c.10431_10432C>CA	c.(10429-10434)gccaaafs	p.A3477fs	DNAH8_uc003ooe.2_Frame_Shift_Ins_p.A3260fs|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						TTGAAAGTGCCAAAAAAGTCTG	0.396													A	38885825	-	A	38885824	7	5	172	1	0	1	1	0	0	0	0	0	4607	131	5	0	10043	0	DNAH8	6	38885824	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	38885824	132229243	660	93772	459	2									
KCNK5	8645	broad.mit.edu	37	chr6	39159204	39159204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccctgggcccgggcccGtctccccacccccgcttgtc	10	23	1	0	rs145388113		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:39159204G>A	uc003oon.2	-	5	1326	c.962C>T	c.(961-963)ACG>ATG	p.T321M		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	321	Cytoplasmic (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						GCCCGGGCCCGTCTCCCCACC	0.622													A	39159204	G	A	39159204	3	1	172	1	0	0	0	0	1	0	0	0	8069	1145	40	1	541	1	KCNK5	6	39159204	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	273380	39159204	131955863	661	93773											
TRERF1	55809	broad.mit.edu	37	chr6	42236421	42236421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctgctgctgctgtggcGgcggctgtggctgtgatggg	21	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:42236421G>A	uc003osd.2	-	5	1471	c.908C>T	c.(907-909)CCG>CTG	p.P303L	TRERF1_uc011duq.1_Missense_Mutation_p.P303L|TRERF1_uc003osb.2_Missense_Mutation_p.P142L|TRERF1_uc003osc.2_Missense_Mutation_p.P142L|TRERF1_uc003ose.2_Missense_Mutation_p.P303L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	303	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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ctgctgTGGCGGCGGCTGTGG	0.438													A	42236421	G	A	42236421	3	1	172	1	0	0	0	0	1	0	0	0	16472	1116	39	1	2750	1	TRERF1	6	42236421	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3077217	42236421	128878646	662	93774											
TRERF1	55809	broad.mit.edu	37	chr6	42237177	42237177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagtggggggagattggcGaggcctgaggggcatccatt	20	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:42237177G>A	uc003osd.2	-	5	715	c.152C>T	c.(151-153)TCG>TTG	p.S51L	TRERF1_uc011duq.1_Missense_Mutation_p.S51L|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.S51L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	51					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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAGATTGGCGAGGCCTGAGG	0.577													A	42237177	G	A	42237177	3	1	172	1	0	0	0	0	1	0	0	0	16472	1059	37	1	3506	1	TRERF1	6	42237177	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	756	42237177	128877890	663	93775											
KLC4	89953	broad.mit.edu	37	chr6	43034086	43034086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcagcagggtggatAtgagatcccagcaaggttgc	14	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:43034086A>G	uc003otv.1	+	5	691	c.614A>G	c.(613-615)TAT>TGT	p.Y205C	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.Y128C|KLC4_uc003otu.2_Missense_Mutation_p.Y205C|KLC4_uc003otw.1_Missense_Mutation_p.Y223C|KLC4_uc003otx.1_Missense_Mutation_p.Y205C|KLC4_uc003oty.1_Missense_Mutation_p.Y205C|KLC4_uc003otz.1_Missense_Mutation_p.Y205C	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	205						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			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)			CAGGGTGGATATGAGATCCCA	0.547													G	43034086	A	G	43034086	3	3	172	1	0	0	0	0	1	0	0	0	8336	449	16	3	686	3	KLC4	6	43034086	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	796909	43034086	128080981	664	93776											
ZNF318	24149	broad.mit.edu	37	chr6	43325431	43325431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaggcccttcctcctgGgaaatatatcgctcaagacc	9	13	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:43325431G>A	uc003oux.2	-	3	699	c.621C>T	c.(619-621)TCC>TCT	p.S207S	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	207					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCCTCCTGGGAAATATATC	0.473													A	43325431	G	A	43325431	2	1	172	1	0	0	0	0	0	0	0	1	17833	1219	43	4		4	ZNF318	6	43325431	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	291345	43325431	127789636	665	93777											
C6orf223	221416	broad.mit.edu	37	chr6	43969836	43969836	+	Frame_Shift_Del	DEL	C	C	-													ttgagggaggagagaggacaCcccctccaccccagacatag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:43969836delC	uc003own.2	+	3	273	c.255delC	c.(253-255)CACfs	p.H85fs	uc003owm.1_Intron|C6orf223_uc003owo.2_Frame_Shift_Del_p.H65fs	NM_153246	NP_694978	Q8N319	CF223_HUMAN	hypothetical protein LOC221416	85											0	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			AGAGAGGACACCCCCTCCACC	0.438													-	43969836	C	-	43969836	7	5	172	1	0	1	0	1	0	0	0	0	2357	507	18	0	308	0	C6orf223	6	43969836	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	644405	43969836	127145231	666	93778											
GPR116	221395	broad.mit.edu	37	chr6	46826498	46826498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcaggtgtggcgcatatAagaagtccggttcttggtca	13	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:46826498A>G	uc003oyo.3	-	17	3431	c.3142T>C	c.(3142-3144)TAT>CAT	p.Y1048H	GPR116_uc011dwj.1_Missense_Mutation_p.Y603H|GPR116_uc011dwk.1_Missense_Mutation_p.Y477H|GPR116_uc003oyp.3_Missense_Mutation_p.Y906H|GPR116_uc003oyq.3_Missense_Mutation_p.Y1048H|GPR116_uc010jzi.1_Missense_Mutation_p.Y720H	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1048	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			TGGCGCATATAAGAAGTCCGG	0.507													G	46826498	A	G	46826498	3	3	172	1	0	0	0	0	1	0	0	0	6633	362	13	3	918	3	GPR116	6	46826498	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2856662	46826498	124288569	667	93779											
GPR115	221393	broad.mit.edu	37	chr6	47682692	47682692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggcgttcgtcattgtgGctgtaaatctgattgtggtt	12	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:47682692G>A	uc003oza.1	+	6	1969	c.1711G>A	c.(1711-1713)GCT>ACT	p.A571T	GPR115_uc003oyz.1_Missense_Mutation_p.A628T|GPR115_uc003ozb.1_Missense_Mutation_p.A569T	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	571	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						CGTCATTGTGGCTGTAAATCT	0.478													A	47682692	G	A	47682692	3	1	172	1	0	0	0	0	1	0	0	0	6632	1203	42	2	1729	2	GPR115	6	47682692	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	856194	47682692	123432375	668	93780											
C6orf138	442213	broad.mit.edu	37	chr6	47846151	47846151	+	Frame_Shift_Del	DEL	A	A	-													ggtgctttttggaaggggggAaaaacgttaggaacacaggt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:47846151delA	uc011dwm.1	-	3	2463	c.2378delT	c.(2377-2379)TTCfs	p.F793fs	C6orf138_uc011dwn.1_Frame_Shift_Del_p.F557fs	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	810						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GGAAGGGGGGAAAAACGTTAG	0.453													-	47846151	A	-	47846151	7	5	172	1	0	1	0	1	0	0	0	0	2332	246	9	0	115	0	C6orf138	6	47846151	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	163459	47846151	123268916	669	93781											
TINAG	27283	broad.mit.edu	37	chr6	54214656	54214656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtagaaaaatctaacaggAtctatcaatgttctcctcca	5	10	4	1	rs149134126		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:54214656A>G	uc003pcj.2	+	7	1188	c.1042A>G	c.(1042-1044)ATC>GTC	p.I348V	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	348					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTAACAGGATCTATCAATG	0.433													G	54214656	A	G	54214656	3	3	172	1	0	0	0	0	1	0	0	0	15918	333	12	3	1068	3	TINAG	6	54214656	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6368505	54214656	116900411	670	93782											
BMP5	653	broad.mit.edu	37	chr6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtggcagccacatgagcGtactaccatatttctatatt	7	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:55620351G>A	uc003pcq.2	-	7	2057	c.1345C>T	c.(1345-1347)CGC>TGC	p.R449C	BMP5_uc011dxf.1_Missense_Mutation_p.R412C	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	449					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328													A	55620351	G	A	55620351	3	1	172	1	0	0	0	0	1	0	0	0	1463	1145	40	1	23	1	BMP5	6	55620351	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1405695	55620351	115494716	671	93783											
DST	667	broad.mit.edu	37	chr6	56358915	56358915	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatcttgcaagcatctGctggcctttctgcatcagac	10	12	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:56358915G>A	uc003pdf.2	-	77	13958	c.13930C>T	c.(13930-13932)CAG>TAG	p.Q4644*	DST_uc003pcz.3_Nonsense_Mutation_p.Q4466*|DST_uc011dxj.1_Nonsense_Mutation_p.Q4495*|DST_uc011dxk.1_Nonsense_Mutation_p.Q4506*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4140*|DST_uc003pda.3_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6552	Spectrin 16.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAAGCATCTGCTGGCCTTTC	0.378													A	56358915	G	A	56358915	4	1	172	1	0	0	0	0	0	1	0	0	4783	1328	46	2	3181	2	DST	6	56358915	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	738564	56358915	114756152	672	93784											
DST	667	broad.mit.edu	37	chr6	56362821	56362821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attaacggcttccactgtggActgatgggctaatacatcat	9	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:56362821A>T	uc003pdf.2	-	75	13598	c.13570T>A	c.(13570-13572)TCC>ACC	p.S4524T	DST_uc003pcz.3_Missense_Mutation_p.S4346T|DST_uc011dxj.1_Missense_Mutation_p.S4375T|DST_uc011dxk.1_Missense_Mutation_p.S4386T|DST_uc003pcy.3_Missense_Mutation_p.S4020T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6432	Spectrin 15.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCACTGTGGACTGATGGGCT	0.353													T	56362821	A	T	56362821	3	4	172	1	0	0	0	0	1	0	0	0	4783	275	10	5	3549	5	DST	6	56362821	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3906	56362821	114752246	673	93785											
ZNF451	26036	broad.mit.edu	37	chr6	57012429	57012429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaggggtcattcgtttaCacatgagccggattcacgga	11	9	3	1	rs113698145		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:57012429C>T	uc003pdm.1	+	10	1770	c.1546C>T	c.(1546-1548)CAC>TAC	p.H516Y	ZNF451_uc003pdl.2_Missense_Mutation_p.H516Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H516Y|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H516Y	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	516	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CATTCGTTTACACATGAGCCG	0.408													T	57012429	C	T	57012429	3	4	172	1	0	0	0	0	1	0	0	0	17919	478	17	4	1584	4	ZNF451	6	57012429	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	649608	57012429	114102638	674	93786											
PRIM2	5558	broad.mit.edu	37	chr6	57190736	57190736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcagtgaagaacttagaCgctggttcattcaacaagaa	8	7	3	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:57190736C>T	uc003pdx.2	+	5	439	c.352C>T	c.(352-354)CGC>TGC	p.R118C	PRIM2_uc003pdv.1_Missense_Mutation_p.R118C|PRIM2_uc003pdw.2_Missense_Mutation_p.R118C	NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	118					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	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGAACTTAGACGCTGGTTCAT	0.289													T	57190736	C	T	57190736	3	4	172	1	0	0	0	0	1	0	0	0	12491	536	19	1	366	1	PRIM2	6	57190736	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	178307	57190736	113924331	675	93787											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604724	62604724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgggggaggaggaatgGcacccccacggcccctaaga	17	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:62604724G>A	uc003peg.2	-	6	873	c.626C>T	c.(625-627)GCC>GTC	p.A209V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGGAGGAATGGCACCCCCACG	0.542													A	62604724	G	A	62604724	3	1	172	1	0	0	0	0	1	0	0	0	8147	1203	42	2	439	2	KHDRBS2	6	62604724	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5413988	62604724	108510343	676	93788											
FAM135A	57579	broad.mit.edu	37	chr6	71233735	71233735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcagttctcttccacCcttacctattgaatgtagtg	6	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:71233735C>A	uc003pfj.2	+	12	1302	c.1169C>A	c.(1168-1170)CCC>CAC	p.P390H	FAM135A_uc003pfi.2_Missense_Mutation_p.P390H|FAM135A_uc003pfh.2_Missense_Mutation_p.P373H|FAM135A_uc003pfk.2_Missense_Mutation_p.P416H|FAM135A_uc003pfl.2_Missense_Mutation_p.P253H|FAM135A_uc003pfn.2_Missense_Mutation_p.P16H|FAM135A_uc003pfo.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	390										central_nervous_system(1)	1						TCTCTTCCACCCTTACCTATT	0.343													A	71233735	C	A	71233735	3	1	172	1	0	0	0	0	1	0	0	0	5448	623	22	5	1293	5	FAM135A	6	71233735	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	8629011	71233735	99881332	677	93789											
B3GAT2	135152	broad.mit.edu	37	chr6	71603902	71603902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaactttgccgttttccAccagcggacgttcgtagcgc	9	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:71603902A>G	uc003pfv.2	-	2	1321	c.665T>C	c.(664-666)GTG>GCG	p.V222A	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.V222A	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	222	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GCCGTTTTCCACCAGCGGACG	0.557													G	71603902	A	G	71603902	3	3	172	1	0	0	0	0	1	0	0	0	1254	159	6	3	318	3	B3GAT2	6	71603902	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	370167	71603902	99511165	678	93790											
OGFRL1	79627	broad.mit.edu	37	chr6	72003284	72003284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgagcaatcttcgttttTataagaataaaattccattc	4	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:72003284T>C	uc003pfx.1	+	3	533	c.370T>C	c.(370-372)TAT>CAT	p.Y124H		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	124						membrane	receptor activity				0						TCTTCGTTTTTATAAGAATAA	0.299													C	72003284	T	C	72003284	3	2	172	1	0	0	0	0	1	0	0	0	10844	1754	61	3	380	3	OGFRL1	6	72003284	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	399382	72003284	99111783	679	93791											
C6orf221	154288	broad.mit.edu	37	chr6	74073542	74073542	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaggcagtgacccagCggtttcgcgaggatgcccgg	15	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:74073542C>A	uc003pgt.3	+	3	666	c.613C>A	c.(613-615)CGG>AGG	p.R205R		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	205										skin(2)	2						AGTGACCCAGCGGTTTCGCGA	0.617													A	74073542	C	A	74073542	2	1	172	1	0	0	0	0	0	0	0	1	2355	759	27	5		5	C6orf221	6	74073542	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2070258	74073542	97041525	680	93792											
COL12A1	1303	broad.mit.edu	37	chr6	75799923	75799923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcgctaccaggaggTcccggtggacccggcgggcc	16	16	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:75799923T>C	uc003phs.2	-	63	9010	c.8844A>G	c.(8842-8844)GGA>GGG	p.G2948G	COL12A1_uc003pht.2_Silent_p.G1784G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2948	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TACCAGGAGGTCCCGGTGGAC	0.617													C	75799923	T	C	75799923	2	2	172	1	0	0	0	0	0	0	0	1	3669	1654	58	3		3	COL12A1	6	75799923	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1726381	75799923	95315144	681	93793											
COL12A1	1303	broad.mit.edu	37	chr6	75833999	75833999	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcttagttttagcctgtaGgaggtggctgcccggtgagg	18	7	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:75833999G>T	uc003phs.2	-	41	6862	c.6696C>A	c.(6694-6696)TCC>TCA	p.S2232S	COL12A1_uc003pht.2_Silent_p.S1068S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2232	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTAGCCTGTAGGAGGTGGCTG	0.368													T	75833999	G	T	75833999	2	4	172	1	0	0	0	0	0	0	0	1	3669	987	35	5		5	COL12A1	6	75833999	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	34076	75833999	95281068	682	93794											
PHIP	55023	broad.mit.edu	37	chr6	79675723	79675723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaagaggttcctggctttCgattgttccaaaccaccagg	10	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:79675723C>T	uc003pir.2	-	28	3482	c.3256G>A	c.(3256-3258)GAA>AAA	p.E1086K	PHIP_uc003piq.2_Missense_Mutation_p.E110K|PHIP_uc011dyp.1_Missense_Mutation_p.E1085K|PHIP_uc003pio.3_5'UTR	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1086	Mediates interaction with IRS1 (By similarity).				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			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		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)		TCCTGGCTTTCGATTGTTCCA	0.418													T	79675723	C	T	79675723	3	4	172	1	0	0	0	0	1	0	0	0	11842	893	31	1	2261	1	PHIP	6	79675723	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3841724	79675723	91439344	683	93795											
IBTK	25998	broad.mit.edu	37	chr6	82883120	82883120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatctgaaatatggTtgccttctggtcctggggta	13	6	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:82883120T>C	uc003pjl.1	-	27	4288	c.3761A>G	c.(3760-3762)AAC>AGC	p.N1254S	IBTK_uc011dyu.1_Missense_Mutation_p.N205S|IBTK_uc011dyv.1_Missense_Mutation_p.N1239S|IBTK_uc011dyw.1_Missense_Mutation_p.N1053S|IBTK_uc010kbi.1_Missense_Mutation_p.N948S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1254					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		TGAAATATGGTTGCCTTCTGG	0.368													C	82883120	T	C	82883120	3	2	172	1	0	0	0	0	1	0	0	0	7476	1725	60	3	312	3	IBTK	6	82883120	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3207397	82883120	88231947	684	93796											
IBTK	25998	broad.mit.edu	37	chr6	82891683	82891683	+	Frame_Shift_Del	DEL	T	T	-													aactatggctagtaacagacTttttttcttctagtaagaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:82891682_82891682CT>C	uc003pjl.1	-	25	4166	c.3639_3639AG>G	c.(3637-3639)aagfs	p.K1213fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1213					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)		TAGTAACAGACTTTTTTTCTT	0.348													-	82891683	T	-	82891683	7	5	172	1	0	1	0	1	0	0	0	0	7476	1609	56	0	439	0	IBTK	6	82891683	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	8563	82891683	88223384	685	93797											
DOPEY1	23033	broad.mit.edu	37	chr6	83847804	83847804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttctgaaattgagagtgAcatgggttctccaggatctc	10	8	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:83847804A>G	uc003pjs.1	+	21	4303	c.4043A>G	c.(4042-4044)GAC>GGC	p.D1348G	DOPEY1_uc011dyy.1_Missense_Mutation_p.D1339G|DOPEY1_uc010kbl.1_Missense_Mutation_p.D1339G|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1348					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		ATTGAGAGTGACATGGGTTCT	0.408													G	83847804	A	G	83847804	3	3	172	1	0	0	0	0	1	0	0	0	4707	275	10	3	4117	3	DOPEY1	6	83847804	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	956121	83847804	87267263	686	93798											
TBX18	9096	broad.mit.edu	37	chr6	85446535	85446535	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggcaacatctgccgatcCgtcatggtcccactcggtga	13	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:85446535C>A	uc003pkl.1	-	8	1692	c.1692G>T	c.(1690-1692)ACG>ACT	p.T564T	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		TCTGCCGATCCGTCATGGTCC	0.522													A	85446535	C	A	85446535	2	1	172	1	0	0	0	0	0	0	0	1	15650	639	23	5		5	TBX18	6	85446535	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1598731	85446535	85668532	687	93799											
ZNF292	23036	broad.mit.edu	37	chr6	87964552	87964552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgagcctacagtagatgCgtattatgctgtggaaatgt	11	5	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:87964552C>T	uc003plm.3	+	8	1246	c.1205C>T	c.(1204-1206)GCG>GTG	p.A402V		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		ACAGTAGATGCGTATTATGCT	0.368													T	87964552	C	T	87964552	3	4	172	1	0	0	0	0	1	0	0	0	17823	768	27	1	1235	1	ZNF292	6	87964552	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2518017	87964552	83150515	688	93800											
ANKRD6	22881	broad.mit.edu	37	chr6	90312801	90312801	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggggaacacggagatcatCgcggcgctcatccacgaagg	15	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90312801C>T	uc003pni.3	+	4	614	c.273C>T	c.(271-273)ATC>ATT	p.I91I	ANKRD6_uc003pne.3_Silent_p.I91I|ANKRD6_uc003pnf.3_Silent_p.I91I|ANKRD6_uc011dzy.1_Silent_p.I91I|ANKRD6_uc010kcd.2_Silent_p.I91I|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_RNA|ANKRD6_uc003pnh.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	91	ANK 3.						protein binding			ovary(2)|pancreas(1)	3		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)		CGGAGATCATCGCGGCGCTCA	0.612													T	90312801	C	T	90312801	2	4	172	1	0	0	0	0	0	0	0	1	685	874	31	1		1	ANKRD6	6	90312801	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2348249	90312801	80802266	689	93801											
MDN1	23195	broad.mit.edu	37	chr6	90380703	90380703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagtactacggtgagTtgctaaagacatggtcagga	12	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90380703T>C	uc003pnn.1	-	83	14007	c.13891A>G	c.(13891-13893)ACT>GCT	p.T4631A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4631					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		CTACGGTGAGTTGCTAAAGAC	0.537													C	90380703	T	C	90380703	3	2	172	1	0	0	0	0	1	0	0	0	9415	1725	60	3	2979	3	MDN1	6	90380703	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	67902	90380703	80734364	690	93802											
MDN1	23195	broad.mit.edu	37	chr6	90394665	90394665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggtcaaagaattgcttgTaataatggtacaaattccat	7	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90394665T>C	uc003pnn.1	-	71	11875	c.11759A>G	c.(11758-11760)TAC>TGC	p.Y3920C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3920					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		GAATTGCTTGTAATAATGGTA	0.408													C	90394665	T	C	90394665	3	2	172	1	0	0	0	0	1	0	0	0	9415	1638	57	3	5159	3	MDN1	6	90394665	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	13962	90394665	80720402	691	93803											
BACH2	60468	broad.mit.edu	37	chr6	90659999	90659999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttccctacctcctggcccCtgtcctgcacaggacacgac	9	18	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90659999C>A	uc011eab.1	-	7	2635	c.1826G>T	c.(1825-1827)AGG>ATG	p.R609M	BACH2_uc003pnw.2_Missense_Mutation_p.R609M|BACH2_uc010kch.2_Missense_Mutation_p.R609M	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	609						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		CTCCTGGCCCCTGTCCTGCAC	0.537													A	90659999	C	A	90659999	3	1	172	1	0	0	0	0	1	0	0	0	1284	681	24	5	711	5	BACH2	6	90659999	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	265334	90659999	80455068	692	93804											
BACH2	60468	broad.mit.edu	37	chr6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccccgctcccgtcctccGcgtaggaataggaagagcag	12	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:90660239G>A	uc011eab.1	-	7	2395	c.1586C>T	c.(1585-1587)GCG>GTG	p.A529V	BACH2_uc003pnw.2_Missense_Mutation_p.A529V|BACH2_uc010kch.2_Missense_Mutation_p.A529V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	529						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		CCCGTCCTCCGCGTAGGAATA	0.622													A	90660239	G	A	90660239	3	1	172	1	0	0	0	0	1	0	0	0	1284	1087	38	1	951	1	BACH2	6	90660239	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	240	90660239	80454828	693	93805											
SFRS18	25957	broad.mit.edu	37	chr6	99849046	99849046	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgctatttctattagaTctccttctatctctaatctt	2	10	6	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:99849046T>A	uc003ppo.3	-	12	2016	c.1788A>T	c.(1786-1788)AGA>AGT	p.R596S	SFRS18_uc003ppl.2_Missense_Mutation_p.R142S|SFRS18_uc003ppp.3_Missense_Mutation_p.R596S|SFRS18_uc011eag.1_Missense_Mutation_p.R596S	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	596						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TTCTATTAGATCTCCTTCTAT	0.423													A	99849046	T	A	99849046	3	1	172	1	0	0	0	0	1	0	0	0	14174	1432	50	5	633	5	SFRS18	6	99849046	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	9188807	99849046	71266021	694	93806											
ASCC3	10973	broad.mit.edu	37	chr6	101091910	101091910	+	Frame_Shift_Del	DEL	T	T	-													cacatatatacacttacttgTttttttagagctagaaaata							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:101091909_101091909GT>G	uc003pqk.3	-	22	4059	c.3730_3730AC>C	c.(3730-3732)caafs	p.Q1244fs		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1244	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q1244H(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)		ACACTTACTTGTTTTTTTAGA	0.289													-	101091910	T	-	101091910	7	5	172	1	0	1	0	1	0	0	0	0	1033	1722	60	0	2959	0	ASCC3	6	101091910	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1242864	101091910	70023157	695	93807											
BEND3	57673	broad.mit.edu	37	chr6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-													cagcaagcggcaggccaggtCcccccctgacaggctctggt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:107391602delC	uc003prs.2	-	5	1443	c.793delG	c.(793-795)GACfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	265	BEN 1.									ovary(3)	3						CAGGCCAGGTCCCCCCCTGAC	0.652													-	107391602	C	-	107391602	7	5	172	1	0	1	0	1	0	0	0	0	1399	855	30	0	1697	0	BEND3	6	107391602	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	6299692	107391602	63723465	696	93808											
MICAL1	64780	broad.mit.edu	37	chr6	109771647	109771647	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatcctgggcaaactcTagtttcccgagcttgccatg	11	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:109771647T>C	uc003ptj.2	-	7	1301	c.1047A>G	c.(1045-1047)CTA>CTG	p.L349L	MICAL1_uc003ptk.2_Silent_p.L349L|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Silent_p.L368L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	349					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGGCAAACTCTAGTTTCCCGA	0.592													C	109771647	T	C	109771647	2	2	172	1	0	0	0	0	0	0	0	1	9569	1509	53	3		3	MICAL1	6	109771647	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2380045	109771647	61343420	697	93809											
GPR6	2830	broad.mit.edu	37	chr6	110300985	110300985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggtgcgcccgctggcgCgcagccacgtggctctgctc	16	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:110300985C>T	uc011eaw.1	+	2	850	c.670C>T	c.(670-672)CGC>TGC	p.R224C	GPR6_uc011eav.1_Missense_Mutation_p.R239C|GPR6_uc003ptu.2_Missense_Mutation_p.R224C	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	224	Extracellular (Potential).					integral to plasma membrane					0		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)		CCCGCTGGCGCGCAGCCACGT	0.701													T	110300985	C	T	110300985	3	4	172	1	0	0	0	0	1	0	0	0	6701	768	27	1	672	1	GPR6	6	110300985	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	529338	110300985	60814082	698	93810											
AMD1	262	broad.mit.edu	37	chr6	111210137	111210137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgctgaaagcactggTtcccctgttgaagcttgcta	9	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:111210137T>C	uc003puk.1	+	3	597	c.275T>C	c.(274-276)GTT>GCT	p.V92A	AMD1_uc011eay.1_Missense_Mutation_p.V23A|AMD1_uc011eaz.1_Missense_Mutation_p.V63A|AMD1_uc011eba.1_Intron|AMD1_uc003pul.1_Intron	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	92					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AAAGCACTGGTTCCCCTGTTG	0.393													C	111210137	T	C	111210137	3	2	172	1	0	0	0	0	1	0	0	0	566	1725	60	3	285	3	AMD1	6	111210137	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	909152	111210137	59904930	699	93811											
ROS1	6098	broad.mit.edu	37	chr6	117710733	117710733	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggaaaatgaccttgccAtctgtgacaagaaagtcatt	9	7	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:117710733A>G	uc003pxp.1	-	12	1738	c.1539T>C	c.(1537-1539)GAT>GAC	p.D513D	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	513	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		TGACCTTGCCATCTGTGACAA	0.423			T	GOPC|ROS1	glioblastoma|NSCLC								G	117710733	A	G	117710733	2	3	172	1	0	0	0	0	0	0	0	1	13531	214	8	3		3	ROS1	6	117710733	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6500596	117710733	53404334	700	93812											
GJA1	2697	broad.mit.edu	37	chr6	121768887	121768887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaaacaattcttcttgCcgcaattacaacaagcaagc	6	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:121768887C>T	uc003pyr.2	+	2	1144	c.894C>T	c.(892-894)TGC>TGT	p.C298C	GJA1_uc011ebo.1_Silent_p.C199C|GJA1_uc011ebp.1_Silent_p.C86C	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	298	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATTCTTCTTGCCGCAATTACA	0.498													T	121768887	C	T	121768887	2	4	172	1	0	0	0	0	0	0	0	1	6400	747	26	2		2	GJA1	6	121768887	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4058154	121768887	49346180	701	93813											
TPD52L1	7164	broad.mit.edu	37	chr6	125541281	125541281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcagtagccagtgctgActtctctagcatgctctctg	10	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:125541281A>G	uc003pzu.1	+	2	296	c.77A>G	c.(76-78)GAC>GGC	p.D26G	TPD52L1_uc003pzv.1_Missense_Mutation_p.D26G|TPD52L1_uc003pzw.1_Missense_Mutation_p.D26G|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	26	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCCAGTGCTGACTTCTCTAGC	0.393													G	125541281	A	G	125541281	3	3	172	1	0	0	0	0	1	0	0	0	16395	275	10	3	83	3	TPD52L1	6	125541281	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3772394	125541281	45573786	702	93814											
LAMA2	3908	broad.mit.edu	37	chr6	129636721	129636721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacatccagagattgttgCccacatggacctgatgagag	10	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:129636721C>T	uc003qbn.2	+	25	3761	c.3656C>T	c.(3655-3657)GCC>GTC	p.A1219V	LAMA2_uc003qbo.2_Missense_Mutation_p.A1219V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1219	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGATTGTTGCCCACATGGAC	0.448													T	129636721	C	T	129636721	3	4	172	1	0	0	0	0	1	0	0	0	8606	739	26	2	3754	2	LAMA2	6	129636721	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4095440	129636721	41478346	703	93815											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959541	129959541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaagaaaacctactgTttcttttgattctctctgtt	4	8	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:129959541T>C	uc003qbr.2	-	3	639	c.550A>G	c.(550-552)ACA>GCA	p.T184A	ARHGAP18_uc011ebw.1_Missense_Mutation_p.T184A	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	184					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AAACCTACTGTTTCTTTTGAT	0.318													C	129959541	T	C	129959541	3	2	172	1	0	0	0	0	1	0	0	0	868	1725	60	3	1493	3	ARHGAP18	6	129959541	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	322820	129959541	41155526	704	93816											
EPB41L2	2037	broad.mit.edu	37	chr6	131179333	131179333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccaccactcttgtgacCgacatgtcagggtgctgctc	10	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:131179333C>T	uc003qch.2	-	19	3143	c.2961G>A	c.(2959-2961)TCG>TCA	p.S987S	EPB41L2_uc003qce.1_Silent_p.S365S|EPB41L2_uc003qcf.1_RNA|EPB41L2_uc003qcg.1_Silent_p.S729S|EPB41L2_uc011eby.1_Silent_p.S655S|EPB41L2_uc003qci.2_Silent_p.S834S|EPB41L2_uc010kfk.2_Silent_p.S655S|EPB41L2_uc003qcd.1_Silent_p.S148S	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	987	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCTTGTGACCGACATGTCAG	0.552													T	131179333	C	T	131179333	2	4	172	1	0	0	0	0	0	0	0	1	5153	639	23	1		1	EPB41L2	6	131179333	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1219792	131179333	39935734	705	93817											
MED23	9439	broad.mit.edu	37	chr6	131919553	131919553	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcatataccaggaaatcTgcaaatgtcctcacatgggc	7	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:131919553T>G	uc003qcs.1	-	20	2655	c.2481A>C	c.(2479-2481)GCA>GCC	p.A827A	MED23_uc003qcq.2_Silent_p.A833A|MED23_uc011eca.1_Silent_p.A468A|MED23_uc003qct.1_Silent_p.A833A	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	827					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCAGGAAATCTGCAAATGTCC	0.398													G	131919553	T	G	131919553	2	3	172	1	0	0	0	0	0	0	0	1	9441	1567	55	5		5	MED23	6	131919553	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	740220	131919553	39195514	706	93818											
TCF21	6943	broad.mit.edu	37	chr6	134210668	134210668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggagagctccaactgcGagaatgggtctccccagaag	13	12	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:134210668G>A	uc003qei.3	+	1	409	c.133G>A	c.(133-135)GAG>AAG	p.E45K	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E45K	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	45					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				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CTCCAACTGCGAGAATGGGTC	0.592													A	134210668	G	A	134210668	3	1	172	1	0	0	0	0	1	0	0	0	15688	1059	37	1	135	1	TCF21	6	134210668	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2291115	134210668	36904399	707	93819											
MYB	4602	broad.mit.edu	37	chr6	135520107	135520107	+	Frame_Shift_Del	DEL	C	C	-													aatgccttctttaacttccaCccccctcattggtcacaaat					rs66549477		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:135520107delC	uc003qfc.2	+	10	1464	c.1265delC	c.(1264-1266)ACCfs	p.T422fs	MYB_uc003qfh.2_Frame_Shift_Del_p.T543fs|MYB_uc003qfi.2_Frame_Shift_Del_p.T527fs|MYB_uc010kgi.2_Frame_Shift_Del_p.T422fs|MYB_uc003qfq.2_Frame_Shift_Del_p.T540fs|MYB_uc010kgj.2_Frame_Shift_Del_p.T387fs|MYB_uc003qfo.2_Frame_Shift_Del_p.T337fs|MYB_uc003qfu.2_Frame_Shift_Del_p.T419fs|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Frame_Shift_Del_p.T48fs|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Frame_Shift_Del_p.T234fs|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Frame_Shift_Del_p.T422fs	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	422	Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTAACTTCCACCCCCCTCATT	0.363			T	NFIB	adenoid cystic carcinoma								-	135520107	C	-	135520107	7	5	172	1	0	1	0	1	0	0	0	0	10007	507	18	0	1670	0	MYB	6	135520107	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	1309439	135520107	35594960	708	93820											
CITED2	10370	broad.mit.edu	37	chr6	139694831	139694831	+	Frame_Shift_Del	DEL	G	G	-													ccgcgggggccagcgcgctcGgggggtgccctccgttcaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:139694831delG	uc003qip.1	-	2	495	c.251delC	c.(250-252)CCGfs	p.P84fs		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	84					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGCGCGCTCGGGGGGTGCCC	0.682													-	139694831	G	-	139694831	7	5	172	1	0	1	0	1	0	0	0	0	3440	1116	39	0	565	0	CITED2	6	139694831	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	4174724	139694831	31420236	709	93821											
SASH1	23328	broad.mit.edu	37	chr6	148865376	148865376	+	Frame_Shift_Del	DEL	C	C	-													cctctggtcgcggcctgtcaCcccctcagtgtttgcccaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:148865376delC	uc003qme.1	+	18	3245	c.2770delC	c.(2770-2772)CCCfs	p.P924fs	SASH1_uc011eeb.1_Frame_Shift_Del_p.P685fs|SASH1_uc003qmf.1_Frame_Shift_Del_p.P334fs	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	924							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGGCCTGTCACCCCCTCAGTG	0.517													-	148865376	C	-	148865376	7	5	172	1	0	1	0	1	0	0	0	0	13848	507	18	0	2840	0	SASH1	6	148865376	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	9170545	148865376	22249691	710	93822											
KATNA1	11104	broad.mit.edu	37	chr6	149918302	149918302	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcacgtagacttattcGtaatagctcctccctgcctt	5	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:149918302G>A	uc003qmr.1	-	9	1219	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	KATNA1_uc003qms.2_Nonsense_Mutation_p.R392*|KATNA1_uc003qmt.2_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	392					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			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGACTTATTCGTAATAGCTCC	0.388													A	149918302	G	A	149918302	4	1	172	1	0	0	0	0	0	1	0	0	7984	1153	40	1	309	1	KATNA1	6	149918302	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1052926	149918302	21196765	711	93823											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153335	151153335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaagcaaggagggcccGccattggtatgtgcaccctg	14	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:151153335G>A	uc003qny.1	+	16	3400	c.3088G>A	c.(3088-3090)GCC>ACC	p.A1030T	PLEKHG1_uc011eel.1_Missense_Mutation_p.A1070T|PLEKHG1_uc011eem.1_Missense_Mutation_p.A1089T|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A1030T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1030					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGAGGGCCCGCCATTGGTAT	0.527													A	151153335	G	A	151153335	3	1	172	1	0	0	0	0	1	0	0	0	12068	1087	38	1	3142	1	PLEKHG1	6	151153335	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1235033	151153335	19961732	712	93824											
TIAM2	26230	broad.mit.edu	37	chr6	155498051	155498051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactttcaggacaatcacggAgttactgtagggatcaagcc	10	10	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:155498051A>G	uc003qqb.2	+	12	3736	c.2463A>G	c.(2461-2463)GGA>GGG	p.G821G	TIAM2_uc003qqe.2_Silent_p.G821G|TIAM2_uc010kjj.2_Silent_p.G354G|TIAM2_uc003qqf.2_Silent_p.G197G|TIAM2_uc011efl.1_Silent_p.G157G|TIAM2_uc003qqg.2_Silent_p.G133G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	821	RBD.				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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACAATCACGGAGTTACTGTAG	0.413													G	155498051	A	G	155498051	2	3	172	1	0	0	0	0	0	0	0	1	15888	291	11	3		3	TIAM2	6	155498051	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4344716	155498051	15617016	713	93825											
TIAM2	26230	broad.mit.edu	37	chr6	155498077	155498077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggatcaagccagagcAcagagtagaagatattttga	12	5	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:155498077A>G	uc003qqb.2	+	12	3762	c.2489A>G	c.(2488-2490)CAC>CGC	p.H830R	TIAM2_uc003qqe.2_Missense_Mutation_p.H830R|TIAM2_uc010kjj.2_Missense_Mutation_p.H363R|TIAM2_uc003qqf.2_Missense_Mutation_p.H206R|TIAM2_uc011efl.1_Missense_Mutation_p.H166R|TIAM2_uc003qqg.2_Missense_Mutation_p.H142R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	830	RBD.				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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGCCAGAGCACAGAGTAGAA	0.403													G	155498077	A	G	155498077	3	3	172	1	0	0	0	0	1	0	0	0	15888	159	6	3	2515	3	TIAM2	6	155498077	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	26	155498077	15616990	714	93826											
RSPH3	83861	broad.mit.edu	37	chr6	159404767	159404767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtggtgttggtggtctgTccaaaaatgcatctgtttgg	14	5	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:159404767T>C	uc003qrx.2	-	4	1035	c.845A>G	c.(844-846)GAC>GGC	p.D282G	RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Missense_Mutation_p.D282G	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	282										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGGTGGTCTGTCCAAAAATGC	0.398													C	159404767	T	C	159404767	3	2	172	1	0	0	0	0	1	0	0	0	13705	1667	58	3	857	3	RSPH3	6	159404767	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3906690	159404767	11710300	715	93827											
IGF2R	3482	broad.mit.edu	37	chr6	160461669	160461669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgggacacggaatacGcctgtgttaaggagaaggaa	13	7	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:160461669G>A	uc003qta.2	+	11	1541	c.1393G>A	c.(1393-1395)GCC>ACC	p.A465T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	465	Lumenal (Potential).|3.				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CACGGAATACGCCTGTGTTAA	0.547													A	160461669	G	A	160461669	3	1	172	1	0	0	0	0	1	0	0	0	7576	1087	38	1	1435	1	IGF2R	6	160461669	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1056902	160461669	10653398	716	93828											
SLC22A1	6580	broad.mit.edu	37	chr6	160557287	160557287	+	Frame_Shift_Del	DEL	A	A	-													ccctcggtggctgttatcacAaaaaagaaacactgaagcaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:160557286_160557286CA>C	uc003qtc.3	+	4	979	c.874_874CA>C	c.(874-876)caafs	p.Q292fs	SLC22A1_uc003qtd.3_Frame_Shift_Del_p.Q292fs	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	292						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)		GCTGTTATCACAAAAAAGAAA	0.488													-	160557287	A	-	160557287	7	5	172	1	0	1	0	1	0	0	0	0	14440	130	5	0	893	0	SLC22A1	6	160557287	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	95618	160557287	10557780	717	93829											
T	6862	broad.mit.edu	37	chr6	166571837	166571837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacacaggtgtccatgagGctatgaggcggccttgggct	16	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:166571837G>A	uc003quu.1	-	9	1767	c.1274C>T	c.(1273-1275)GCC>GTC	p.A425V	T_uc003qut.1_Missense_Mutation_p.A426V|T_uc003quv.1_Missense_Mutation_p.A367V	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	425					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		TGTCCATGAGGCTATGAGGCG	0.627									Chordoma_Familial_Clustering_of				A	166571837	G	A	166571837	3	1	172	1	0	0	0	0	1	0	0	0	15485	1203	42	2	37	2	T	6	166571837	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6014550	166571837	4543230	718	93830											
MLLT4	4301	broad.mit.edu	37	chr6	168271129	168271129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattggaacaaagatgatcGggaaggcagatttgttctta	12	4	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr6:168271129G>A	uc003qwd.2	+	3	507	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	MLLT4_uc003qwb.1_Missense_Mutation_p.R122Q|MLLT4_uc003qwc.1_Missense_Mutation_p.R122Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	122	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			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		AAAGATGATCGGGAAGGCAGA	0.393			T	MLL	AL								A	168271129	G	A	168271129	3	1	172	1	0	0	0	0	1	0	0	0	9629	1116	39	1	375	1	MLLT4	6	168271129	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1699292	168271129	2843938	719	93831											
PRKAR1B	5575	broad.mit.edu	37	chr7	720281	720281	+	Frame_Shift_Del	DEL	G	G	-													gggccttcaccacagggttcGggggggtgggcgacacctcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:720280_720280CG>C	uc003siu.2	-	2	394	c.261_261CG>G	c.(259-261)ccgfs	p.P87fs	PRKAR1B_uc021zyi.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siv.3_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyj.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyk.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siw.2_Frame_Shift_Del_p.P87fs	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	87	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|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	p.P87T(1)		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)		CCACAGGGTTCGGGGGGGTGG	0.622													-	720281	G	-	720281	7	5	172	1	0	1	0	1	0	0	0	0	12504	1116	39	0	921	0	PRKAR1B	7	720281	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08		720281	158418382	720	93832											
MAD1L1	8379	broad.mit.edu	37	chr7	2108876	2108876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcctccgggccagcgcctCgtgggtctcgcgcttcttcc	13	17	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2108876C>T	uc003slh.1	-	12	1437	c.1171G>A	c.(1171-1173)GAG>AAG	p.E391K	MAD1L1_uc003sle.1_Missense_Mutation_p.E120K|MAD1L1_uc003slf.1_Missense_Mutation_p.E391K|MAD1L1_uc003slg.1_Missense_Mutation_p.E391K|MAD1L1_uc010ksh.1_Missense_Mutation_p.E391K|MAD1L1_uc003sli.1_Missense_Mutation_p.E299K|MAD1L1_uc010ksi.1_Missense_Mutation_p.E344K|MAD1L1_uc010ksj.2_Missense_Mutation_p.E391K	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	391	Necessary for interaction with NEK2.|Potential.				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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCCAGCGCCTCGTGGGTCTCG	0.657													T	2108876	C	T	2108876	3	4	172	1	0	0	0	0	1	0	0	0	9147	893	31	1	1017	1	MAD1L1	7	2108876	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1388595	2108876	157029787	721	93833											
FTSJ2	29960	broad.mit.edu	37	chr7	2279284	2279284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgtccgattcttgcagcGactcccaacagtgtggaacc	10	14	1	0	rs138187457	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2279284G>A	uc003slm.2	-	2	96	c.67C>T	c.(67-69)CGC>TGC	p.R23C	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	23					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TTCTTGCAGCGACTCCCAACA	0.552													A	2279284	G	A	2279284	3	1	172	1	0	0	0	0	1	0	0	0	6088	1058	37	1	681	1	FTSJ2	7	2279284	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	170408	2279284	156859379	722	93834											
SNX8	29886	broad.mit.edu	37	chr7	2297420	2297420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcagcttctccaccacgtCgttctcttcctgcttaccct	5	17	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2297420C>T	uc003slw.2	-	8	977	c.934G>A	c.(934-936)GAC>AAC	p.D312N		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	312					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCCACCACGTCGTTCTCTTCC	0.592													T	2297420	C	T	2297420	3	4	172	1	0	0	0	0	1	0	0	0	14908	884	31	1	479	1	SNX8	7	2297420	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	18136	2297420	156841243	723	93835											
C7orf27	221927	broad.mit.edu	37	chr7	2583343	2583343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccgtccaggggctctgGcagcgcccgaaggtcgtggt	16	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2583343G>A	uc003smi.2	-	5	726	c.684C>T	c.(682-684)TGC>TGT	p.C228C	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Silent_p.C228C	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	228					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		AGGGGCTCTGGCAGCGCCCGA	0.662													A	2583343	G	A	2583343	2	1	172	1	0	0	0	0	0	0	0	1	2382	1195	42	2		2	C7orf27	7	2583343	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	285923	2583343	156555320	724	93836											
CARD11	84433	broad.mit.edu	37	chr7	2974156	2974156	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtacttgctgtcttcaggTgactcctccgaggtggaaga	12	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2974156T>C	uc003smv.2	-	10	1853	c.1449A>G	c.(1447-1449)TCA>TCG	p.S483S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	483					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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTCTTCAGGTGACTCCTCCG	0.592			Mis		DLBCL								C	2974156	T	C	2974156	2	2	172	1	0	0	0	0	0	0	0	1	2645	1683	59	3		3	CARD11	7	2974156	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	390813	2974156	156164507	725	93837											
CARD11	84433	broad.mit.edu	37	chr7	2984023	2984023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggttagcagctccacgcgCgtcagcgtcatctgcttctt	10	13	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:2984023C>T	uc003smv.2	-	5	911	c.507G>A	c.(505-507)ACG>ACA	p.T169T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	169	Potential.				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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCCACGCGCGTCAGCGTCA	0.572			Mis		DLBCL								T	2984023	C	T	2984023	2	4	172	1	0	0	0	0	0	0	0	1	2645	755	27	1		1	CARD11	7	2984023	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9867	2984023	156154640	726	93838											
RNF216	54476	broad.mit.edu	37	chr7	5662491	5662491	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggggattcggggccaTcagaagcgatgccgcggctg	16	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:5662491T>C	uc003soy.1	-	17	2791	c.2601A>G	c.(2599-2601)TGA>TGG	p.*867W	RNF216_uc010ksz.1_Nonstop_Mutation_p.*489W|RNF216_uc010kta.1_Nonstop_Mutation_p.*489W|RNF216_uc011jwj.1_Nonstop_Mutation_p.*489W|RNF216_uc003sox.1_Nonstop_Mutation_p.*924W	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	867					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|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTCGGGGCCATCAGAAGCGAT	0.597													C	5662491	T	C	5662491	4	2	172	1	0	0	0	0	0	0	0	0	13480	1448	50	3	3	3	RNF216	7	5662491	Nonstop_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2678468	5662491	153476172	727	93839											
C7orf26	79034	broad.mit.edu	37	chr7	6634210	6634210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatcacctccgttaccGcgctctatgacctgtcatca	6	15	5	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:6634210G>A	uc003sqo.1	+	3	559	c.559G>A	c.(559-561)GCG>ACG	p.A187T	C7orf26_uc003sqp.1_Missense_Mutation_p.A168T|C7orf26_uc003sqq.1_Intron	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	187										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTCCGTTACCGCGCTCTATGA	0.463													A	6634210	G	A	6634210	3	1	172	1	0	0	0	0	1	0	0	0	2381	1087	38	1	569	1	C7orf26	7	6634210	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	971719	6634210	152504453	728	93840											
HDAC9	9734	broad.mit.edu	37	chr7	18767320	18767320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggactcactcttcccctGctgcctctgttttacctcac	5	18	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:18767320G>A	uc003suh.2	+	12	1881	c.1840G>A	c.(1840-1842)GCT>ACT	p.A614T	HDAC9_uc003sue.2_Missense_Mutation_p.A614T|HDAC9_uc011jyd.1_Missense_Mutation_p.A614T|HDAC9_uc003sui.2_Missense_Mutation_p.A617T|HDAC9_uc003suj.2_Missense_Mutation_p.A573T|HDAC9_uc003sua.1_Missense_Mutation_p.A592T|HDAC9_uc010kue.1_Missense_Mutation_p.A269T	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	614					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|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			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCTTCCCCTGCTGCCTCTGT	0.572													A	18767320	G	A	18767320	3	1	172	1	0	0	0	0	1	0	0	0	7014	1319	46	2	1946	2	HDAC9	7	18767320	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	12133110	18767320	140371343	729	93841											
TMEM196	256130	broad.mit.edu	37	chr7	19765163	19765163	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccatttcatgagagtgatGcagggaatgctccctttctg	11	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:19765163G>C	uc011jyg.1	-	3	518	c.433C>G	c.(433-435)CAT>GAT	p.H145D	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	151						integral to membrane					0						TGAGAGTGATGCAGGGAATGC	0.488													C	19765163	G	C	19765163	3	2	172	1	0	0	0	0	1	0	0	0	16115	1319	46	5	93	5	TMEM196	7	19765163	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	997843	19765163	139373500	730	93842											
ITGB8	3696	broad.mit.edu	37	chr7	20449395	20449395	+	Frame_Shift_Del	DEL	A	A	-													gattacagagtgtcagcctcAaaaaaggtcagtgaattcta							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:20449395delA	uc003suu.2	+	13	2886	c.2181delA	c.(2179-2181)TCAfs	p.S727fs	ITGB8_uc011jyh.1_Frame_Shift_Del_p.S592fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	727	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						TGTCAGCCTCAAAAAAGGTCA	0.318													-	20449395	A	-	20449395	7	5	172	1	0	1	0	1	0	0	0	0	7901	117	5	0	2231	0	ITGB8	7	20449395	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	684232	20449395	138689268	731	93843											
NFE2L3	9603	broad.mit.edu	37	chr7	26217597	26217597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaaagcacgaagctgTggatcatagttcccagcatg	11	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:26217597T>C	uc003sxq.2	+	2	877	c.605T>C	c.(604-606)GTG>GCG	p.V202A		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	nuclear factor erythroid 2-like 3	202					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			skin(3)|ovary(1)	4						CACGAAGCTGTGGATCATAGT	0.388													C	26217597	T	C	26217597	3	2	172	1	0	0	0	0	1	0	0	0	10369	1696	59	3	611	3	NFE2L3	7	26217597	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5768202	26217597	132921066	732	93844											
HOXA2	3199	broad.mit.edu	37	chr7	27140390	27140390	+	Frame_Shift_Del	DEL	A	A	-													attgtggtgagtgtgtctgtAaaaaagtctaagctgtcagc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:27140390delA	uc003syh.2	-	2	1361	c.1086delT	c.(1084-1086)TTTfs	p.F362fs		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	362						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTGTGTCTGTAAAAAAGTCTA	0.438													-	27140390	A	-	27140390	7	5	172	1	0	1	0	1	0	0	0	0	7292	359	13	0	48	0	HOXA2	7	27140390	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	922793	27140390	131998273	733	93845											
HOXA3	3200	broad.mit.edu	37	chr7	27150193	27150193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggcattataagcgaaccCgttggctgcctggtaggggt	14	8	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:27150193C>T	uc011jzl.1	-	2	267	c.67G>A	c.(67-69)GGG>AGG	p.G23R	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.G23R	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	23					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						TAAGCGAACCCGTTGGCTGCC	0.612													T	27150193	C	T	27150193	3	4	172	1	0	0	0	0	1	0	0	0	7293	652	23	1	1272	1	HOXA3	7	27150193	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9803	27150193	131988470	734	93846											
DPY19L1	23333	broad.mit.edu	37	chr7	35009088	35009088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactgccaaggaagcatgAaaaatacattggaaatgcag	9	7	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:35009088A>G	uc003tem.3	-	9	897	c.752T>C	c.(751-753)TTC>TCC	p.F251S		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	dpy-19-like 1	251	Helical; (Potential).					integral to membrane					0						AGGAAGCATGAAAAATACATT	0.343													G	35009088	A	G	35009088	3	3	172	1	0	0	0	0	1	0	0	0	4740	246	9	3	1331	3	DPY19L1	7	35009088	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	7858895	35009088	124129575	735	93847											
C7orf10	79783	broad.mit.edu	37	chr7	40900065	40900065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctggagtggtggaccaacAtgaaactcactgacaaagga	12	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:40900065A>C	uc003thn.1	+	14	1349	c.1304A>C	c.(1303-1305)CAT>CCT	p.H435P	C7orf10_uc003thm.1_Missense_Mutation_p.H431P|C7orf10_uc003tho.1_Missense_Mutation_p.H387P|C7orf10_uc003thp.1_RNA	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	442							transferase activity			ovary(2)	2						GTGGACCAACATGAAACTCAC	0.552													C	40900065	A	C	40900065	3	2	172	1	0	0	0	0	1	0	0	0	2376	217	8	5	1350	5	C7orf10	7	40900065	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	5890977	40900065	118238598	736	93848											
GLI3	2737	broad.mit.edu	37	chr7	42005281	42005281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctggcagcccgggcgcGtcaaagtcaccgggcccgtg	15	15	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:42005281G>A	uc011kbh.1	-	15	3481	c.3390C>T	c.(3388-3390)GAC>GAT	p.D1130D	GLI3_uc011kbg.1_Silent_p.D1071D	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1130					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCCGGGCGCGTCAAAGTCAC	0.642									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005281	G	A	42005281	2	1	172	1	0	0	0	0	0	0	0	1	6439	1136	40	1		1	GLI3	7	42005281	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1105216	42005281	117133382	737	93849											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120415	+	Frame_Shift_Ins	INS	-	-	G													gcttatgtccagcagagctgINSggggggtgcaacccggggga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44120413_44120414T>TG	uc003tjt.3	-	1	382_383	c.290_291A>CA	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Ins_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Ins_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Ins_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Ins_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Ins_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGCA	0.634								DNA polymerases (catalytic subunits)					G	44120415	-	G	44120414	7	5	172	1	0	1	1	0	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2115133	44120414	115018249	738	93850											
NPC1L1	29881	broad.mit.edu	37	chr7	44579719	44579719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgataccagctgcttggCggagcagcaggcttgggtgt	16	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44579719C>T	uc003tlb.2	-	2	333	c.277G>A	c.(277-279)GCC>ACC	p.A93T	NPC1L1_uc003tlc.2_Missense_Mutation_p.A93T|NPC1L1_uc011kbw.1_Missense_Mutation_p.A93T|NPC1L1_uc003tld.2_Missense_Mutation_p.A93T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	93	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	AGCTGCTTGGCGGAGCAGCAG	0.597													T	44579719	C	T	44579719	3	4	172	1	0	0	0	0	1	0	0	0	10571	768	27	1	3878	1	NPC1L1	7	44579719	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	459305	44579719	114558944	739	93851											
OGDH	4967	broad.mit.edu	37	chr7	44747227	44747228	+	Frame_Shift_Ins	INS	-	-	C													ctgaaggaggtgcagaagtaINSccccaatgctgagctggcct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44747227_44747228insC	uc003tln.2	+	22	2952_2953	c.2843_2844insC	c.(2842-2844)TACfs	p.Y948fs	OGDH_uc011kbx.1_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.1_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.2_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.1_Frame_Shift_Ins_p.Y743fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	948					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GTGCAGAAGTACCCCAATGCTG	0.564													C	44747228	-	C	44747227	7	5	172	1	0	1	1	0	0	0	0	0	10839	391	14	0	3098	0	OGDH	7	44747227	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	167508	44747227	114391436	740	93852	460	2									
OGDH	4967	broad.mit.edu	37	chr7	44747228	44747229	+	Frame_Shift_Ins	INS	-	-	C													tgaaggaggtgcagaagtacINScccaatgctgagctggcctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:44747227_44747228A>AC	uc003tln.3	+	21	3002_3003	c.2843_2844A>AC	c.(2842-2844)tacfs	p.Y948fs	OGDH_uc011kbx.2_Frame_Shift_Ins_p.Y944fs|OGDH_uc011kby.2_Frame_Shift_Ins_p.Y798fs|OGDH_uc003tlp.3_Frame_Shift_Ins_p.Y959fs|OGDH_uc011kbz.2_Frame_Shift_Ins_p.Y743fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	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													C	44747229	-	C	44747228	7	5	172	1	0	1	1	0	0	0	0	0	10839	518	18	0	3099	0	OGDH	7	44747228	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	44747228	114391435	741	93853	460	2									
TBRG4	9238	broad.mit.edu	37	chr7	45148709	45148709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggaaatgggtgaggtgGctgaggaagtcagagtctta	19	3	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:45148709G>A	uc003tmv.2	-	2	254	c.128C>T	c.(127-129)GCC>GTC	p.A43V	TBRG4_uc003tmu.2_5'Flank|TBRG4_uc003tmw.2_Missense_Mutation_p.A43V|TBRG4_uc003tmx.2_Missense_Mutation_p.A43V|TBRG4_uc011kcd.1_Missense_Mutation_p.A54V	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	43					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						GGGTGAGGTGGCTGAGGAAGT	0.582													A	45148709	G	A	45148709	3	1	172	1	0	0	0	0	1	0	0	0	15646	1203	42	2	1807	2	TBRG4	7	45148709	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	401481	45148709	113989954	742	93854											
PKD1L1	168507	broad.mit.edu	37	chr7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggggacgagactccccGtagggaggatctccactctc	13	12	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:47851503G>A	uc003tny.1	-	50	7493	c.7493C>T	c.(7492-7494)ACG>ATG	p.T2498M	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.T225M	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2498	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAGACTCCCCGTAGGGAGGAT	0.582													A	47851503	G	A	47851503	3	1	172	1	0	0	0	0	1	0	0	0	11964	1145	40	1	1088	1	PKD1L1	7	47851503	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2702794	47851503	111287160	743	93855											
PKD1L1	168507	broad.mit.edu	37	chr7	47942044	47942044	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcacacgatgaaaagttGctgtcttagagtggaggcac	12	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:47942044G>A	uc003tny.1	-	13	1996	c.1996C>T	c.(1996-1998)CAA>TAA	p.Q666*		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	666	Extracellular (Potential).|PKD 2.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						ATGAAAAGTTGCTGTCTTAGA	0.522													A	47942044	G	A	47942044	4	1	172	1	0	0	0	0	0	1	0	0	11964	1328	46	2	6733	2	PKD1L1	7	47942044	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	90541	47942044	111196619	744	93856											
ZNF107	51427	broad.mit.edu	37	chr7	64167799	64167799	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaatcttcaaaccttactGaacataagaaaattcatact	2	10	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:64167799G>A	uc003ttd.2	+	7	1903	c.1117G>A	c.(1117-1119)GAA>AAA	p.E373K	ZNF107_uc003tte.2_Missense_Mutation_p.E373K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	373	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAACCTTACTGAACATAAGAA	0.323													A	64167799	G	A	64167799	3	1	172	1	0	0	0	0	1	0	0	0	17712	1291	45	4	1123	4	ZNF107	7	64167799	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	16225755	64167799	94970864	745	93857											
ZNF107	51427	broad.mit.edu	37	chr7	64168521	64168521	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaaatgtgaagaatgTggaaaagcttataaccgatt	8	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:64168521T>C	uc003ttd.2	+	7	2625	c.1839T>C	c.(1837-1839)TGT>TGC	p.C613C	ZNF107_uc003tte.2_Silent_p.C613C	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	613	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GTGAAGAATGTGGAAAAGCTT	0.343													C	64168521	T	C	64168521	2	2	172	1	0	0	0	0	0	0	0	1	17712	1702	59	3		3	ZNF107	7	64168521	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	722	64168521	94970142	746	93858											
POM121	9883	broad.mit.edu	37	chr7	72397426	72397427	+	Frame_Shift_Ins	INS	-	-	C													gagacagtactgagtgccctINScaaagagaaggagaagaaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:72397426_72397427insC	uc003twk.2	+	3	947_948	c.947_948insC	c.(946-948)CTCfs	p.L316fs	POM121_uc003twj.2_Frame_Shift_Ins_p.L51fs|POM121_uc010lam.1_Frame_Shift_Ins_p.L51fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	316	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					0		Lung NSC(55;0.163)				CTGAGTGCCCTCAAAGAGAAGG	0.46													C	72397427	-	C	72397426	7	5	172	1	0	1	1	0	0	0	0	0	12239	1551	54	0	158	0	POM121	7	72397426	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	8228905	72397426	86741237	747	93859	461	2									
POM121	9883	broad.mit.edu	37	chr7	72397427	72397428	+	Frame_Shift_Ins	INS	-	-	C													agacagtactgagtgccctcINSaaagagaaggagaagaaaag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:72397426_72397427T>TC	uc003twk.2	+	2	947_948	c.947_948T>TC	c.(946-948)ctcfs	p.L316fs	POM121_uc003twj.3_Frame_Shift_Ins_p.L51fs|POM121_uc010lam.1_Frame_Shift_Ins_p.L51fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	316	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)				CTGAGTGCCCTCAAAGAGAAGG	0.46													C	72397428	-	C	72397427	7	5	172	1	0	1	1	0	0	0	0	0	12239	813	29	0	159	0	POM121	7	72397427	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	72397427	86741236	748	93860	461	2									
BAZ1B	9031	broad.mit.edu	37	chr7	72892140	72892140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctttttcagctcctcccGtttctttttcaaatattctt	2	12	5	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:72892140G>A	uc003tyc.2	-	7	1996	c.1651C>T	c.(1651-1653)CGG>TGG	p.R551W		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	551	Potential.|Lys-rich.				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			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCTCCTCCCGTTTCTTTTTC	0.388													A	72892140	G	A	72892140	3	1	172	1	0	0	0	0	1	0	0	0	1330	1144	40	1	2852	1	BAZ1B	7	72892140	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	494713	72892140	86246523	749	93861											
PCLO	27445	broad.mit.edu	37	chr7	82582694	82582694	+	Frame_Shift_Del	DEL	T	T	-													ttggggtgtatatctgttggTttttgtgtagttgttggaag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:82582694delT	uc003uhx.2	-	5	7864	c.7575delA	c.(7573-7575)AAAfs	p.K2525fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K2525fs|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2456	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TATCTGTTGGTTTTTGTGTAG	0.433													-	82582694	T	-	82582694	7	5	172	1	0	1	0	1	0	0	0	0	11583	1722	60	0	7954	0	PCLO	7	82582694	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	9690554	82582694	76555969	750	93862											
PCLO	27445	broad.mit.edu	37	chr7	82585204	82585204	+	Frame_Shift_Del	DEL	T	T	-													ttcgtcaaaatacaaacttgTttttttctgtgatgactctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:82585204delT	uc003uhx.2	-	5	5354	c.5065delA	c.(5065-5067)ACAfs	p.T1689fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1689fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TACAAACTTGTTTTTTTCTGT	0.428													-	82585204	T	-	82585204	7	5	172	1	0	1	0	1	0	0	0	0	11583	1725	60	0	10464	0	PCLO	7	82585204	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	2510	82585204	76553459	751	93863											
SEMA3E	9723	broad.mit.edu	37	chr7	83277761	83277761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttatgtgacaggcgtAaccgggggtgggtagtatca	14	7	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:83277761A>G	uc003uhy.1	-	1	564	c.98T>C	c.(97-99)TTA>TCA	p.L33S		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	33	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TGACAGGCGTAACCGGGGGTG	0.398													G	83277761	A	G	83277761	3	3	172	1	0	0	0	0	1	0	0	0	14028	372	13	3	2297	3	SEMA3E	7	83277761	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	692557	83277761	75860902	752	93864											
ABCB1	5243	broad.mit.edu	37	chr7	87178807	87178808	+	Frame_Shift_Del	DEL	CT	CT	-													cccaccactcaactgggcccCtctctctccaaccagggtgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:87178806_87178807CCT>C	uc003uiz.2	-	14	2075_2076	c.1582_1583AGG>G	c.(1582-1584)gggfs	p.G528fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.G464fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	528	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|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)	CAACTGGGCCCCTCTCTCTCCA	0.505													-	87178808	CT	-	87178807	7	5	172	1	0	1	0	1	0	0	0	0	40	681	24	0	2320	0	ABCB1	7	87178807	Frame_Shift_Del	DEL	CT	TCGA-CG-4442-01A-01D-1158-08	3901046	87178807	71959856	753	93865											
ABCB1	5243	broad.mit.edu	37	chr7	87183250	87183250	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatttttgttgtaccTgagaaaaagaacaaaaatga	6	4	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:87183250T>C	uc003uiz.1	-	10	1246	c.828_splice	c.e10-1	p.R276_splice	ABCB1_uc011khc.1_Splice_Site_p.R212_splice	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, 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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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)	TTGTTGTACCTGAGAAAAAGA	0.259													C	87183250	T	C	87183250	5	2	172	1	0	0	0	0	0	0	1	0	40	1594	55	3	3096	3	ABCB1	7	87183250	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4443	87183250	71955413	754	93866											
C7orf63	79846	broad.mit.edu	37	chr7	89936277	89936277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaattaagaccagtcacTacagataaaaaagctttgga	7	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:89936277T>C	uc010lep.2	+	20	2579	c.2328T>C	c.(2326-2328)ACT>ACC	p.T776T	C7orf63_uc011khj.1_Silent_p.T758T|C7orf63_uc011khk.1_Silent_p.T292T	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	776							binding			ovary(1)	1						GACCAGTCACTACAGATAAAA	0.294													C	89936277	T	C	89936277	2	2	172	1	0	0	0	0	0	0	0	1	2409	1509	53	3		3	C7orf63	7	89936277	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2753027	89936277	69202386	755	93867											
CDK14	5218	broad.mit.edu	37	chr7	90747392	90747392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccacagtgtcttctatttTtactgtcccaaatgtgagat	7	9	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:90747392T>G	uc003uky.2	+	14	1529	c.1307T>G	c.(1306-1308)TTT>TGT	p.F436C	CDK14_uc003ukz.1_Missense_Mutation_p.F418C|CDK14_uc010les.1_Missense_Mutation_p.F390C|CDK14_uc011khl.1_Missense_Mutation_p.F307C	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	436					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			lung(3)|ovary(1)	4						TCTTCTATTTTTACTGTCCCA	0.318													G	90747392	T	G	90747392	3	3	172	1	0	0	0	0	1	0	0	0	3130	1841	64	5	1303	5	CDK14	7	90747392	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	811115	90747392	68391271	756	93868											
AKAP9	10142	broad.mit.edu	37	chr7	91645473	91645473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccttggtgaatattatActcctgctttaaaatgtgaa	8	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:91645473A>G	uc003ulg.2	+	11	3868	c.3643A>G	c.(3643-3645)ACT>GCT	p.T1215A	AKAP9_uc003ule.2_Missense_Mutation_p.T1227A|AKAP9_uc003ulf.2_Missense_Mutation_p.T1215A|AKAP9_uc003uli.2_Missense_Mutation_p.T840A	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1227					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			TGAATATTATACTCCTGCTTT	0.279			T	BRAF	papillary thyroid								G	91645473	A	G	91645473	3	3	172	1	0	0	0	0	1	0	0	0	459	391	14	3	3685	3	AKAP9	7	91645473	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	898081	91645473	67493190	757	93869											
SAMD9	54809	broad.mit.edu	37	chr7	92734173	92734173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttatttgttacaagaatgTactgttcatagtatgaatta	6	3	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:92734173T>C	uc003umf.2	-	3	1494	c.1238A>G	c.(1237-1239)TAC>TGC	p.Y413C	SAMD9_uc003umg.2_Missense_Mutation_p.Y413C	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	413						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	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)			TACAAGAATGTACTGTTCATA	0.318													C	92734173	T	C	92734173	3	2	172	1	0	0	0	0	1	0	0	0	13826	1638	57	3	3535	3	SAMD9	7	92734173	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1088700	92734173	66404490	758	93870											
SAMD9L	219285	broad.mit.edu	37	chr7	92761679	92761679	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatagtgtaaagaccaacTtctatttcacccaagaaaca	6	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:92761679T>C	uc003umh.1	-	5	4822	c.3606A>G	c.(3604-3606)GAA>GAG	p.E1202E	SAMD9L_uc003umj.1_Silent_p.E1202E|SAMD9L_uc003umi.1_Silent_p.E1202E|SAMD9L_uc010lfb.1_Silent_p.E1202E|SAMD9L_uc003umk.1_Silent_p.E1202E|SAMD9L_uc010lfc.1_Silent_p.E1202E|SAMD9L_uc010lfd.1_Silent_p.E1202E|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1202										ovary(4)	4	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)			AAAGACCAACTTCTATTTCAC	0.363													C	92761679	T	C	92761679	2	2	172	1	0	0	0	0	0	0	0	1	13827	1606	56	3		3	SAMD9L	7	92761679	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	27506	92761679	66376984	759	93871											
PPP1R9A	55607	broad.mit.edu	37	chr7	94750077	94750077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgttggagcagatgctGgacttgaaaagctgggaata	16	4	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:94750077G>A	uc003unp.2	+	4	1864	c.1582G>A	c.(1582-1584)GGA>AGA	p.G528R	PPP1R9A_uc010lfj.2_Missense_Mutation_p.G528R|PPP1R9A_uc011kif.1_Missense_Mutation_p.G528R|PPP1R9A_uc003unq.2_Missense_Mutation_p.G528R|PPP1R9A_uc011kig.1_Missense_Mutation_p.G528R	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	528	PDZ.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCAGATGCTGGACTTGAAAA	0.388										HNSCC(28;0.073)			A	94750077	G	A	94750077	3	1	172	1	0	0	0	0	1	0	0	0	12378	1349	47	4	1592	4	PPP1R9A	7	94750077	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1988398	94750077	64388586	760	93872											
DYNC1I1	1780	broad.mit.edu	37	chr7	95726809	95726809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcttgcagttccccaCaatgatgaatggacccgatt	9	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:95726809C>T	uc003uoc.3	+	17	2119	c.1842C>T	c.(1840-1842)CAC>CAT	p.H614H	DYNC1I1_uc003uod.3_Silent_p.H597H|DYNC1I1_uc003uob.2_Silent_p.H577H|DYNC1I1_uc003uoe.3_Silent_p.H594H|DYNC1I1_uc010lfl.2_Silent_p.H603H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	614	WD 7.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	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)			CAGTTCCCCACAATGATGAAT	0.468													T	95726809	C	T	95726809	2	4	172	1	0	0	0	0	0	0	0	1	4842	477	17	4		4	DYNC1I1	7	95726809	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	976732	95726809	63411854	761	93873											
ASNS	440	broad.mit.edu	37	chr7	97493592	97493592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagcttctgaacatacagCcaaaaatccatcttctgtca	4	11	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:97493592C>T	uc003uot.3	-	4	972	c.466G>A	c.(466-468)GCT>ACT	p.A156T	ASNS_uc011kin.1_Missense_Mutation_p.A73T|ASNS_uc003uou.3_Missense_Mutation_p.A156T|ASNS_uc003uov.3_Missense_Mutation_p.A156T|ASNS_uc011kio.1_Missense_Mutation_p.A135T|ASNS_uc003uow.3_Missense_Mutation_p.A135T|ASNS_uc003uox.3_Missense_Mutation_p.A73T	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	156	Glutamine amidotransferase type-2.				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)	GAACATACAGCCAAAAATCCA	0.299													T	97493592	C	T	97493592	3	4	172	1	0	0	0	0	1	0	0	0	1048	739	26	2	1259	2	ASNS	7	97493592	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1766783	97493592	61645071	762	93874											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97944915	97944915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctgacgagaagtaacggTctccacatactaaaaaaaaa	6	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:97944915T>C	uc003upj.2	-	7	759	c.496A>G	c.(496-498)ACC>GCC	p.T166A		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	166	IMD.				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			ovary(1)	1	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)			GAAGTAACGGTCTCCACATAC	0.378													C	97944915	T	C	97944915	3	2	172	1	0	0	0	0	1	0	0	0	1302	1667	58	3	1071	3	BAIAP2L1	7	97944915	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	451323	97944915	61193748	763	93875											
TRRAP	8295	broad.mit.edu	37	chr7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtacctttacgaattgCggcattaagtaagttaatga	8	7	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:98533290C>T	uc003upp.2	+	28	4312	c.4103C>T	c.(4102-4104)GCG>GTG	p.A1368V	TRRAP_uc011kis.1_Missense_Mutation_p.A1368V|TRRAP_uc003upr.2_Missense_Mutation_p.A1060V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1368					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			TTACGAATTGCGGCATTAAGT	0.393													T	98533290	C	T	98533290	3	4	172	1	0	0	0	0	1	0	0	0	16598	768	27	1	4209	1	TRRAP	7	98533290	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	588375	98533290	60605373	764	93876											
TRRAP	8295	broad.mit.edu	37	chr7	98608823	98608823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctctgataggcttcgCggaattcgtcctgcatttaa	11	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:98608823C>T	uc003upp.2	+	70	11254	c.11045C>T	c.(11044-11046)GCG>GTG	p.A3682V	TRRAP_uc011kis.1_Missense_Mutation_p.A3653V|TRRAP_uc003upr.2_Missense_Mutation_p.A3388V|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3682	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			ATAGGCTTCGCGGAATTCGTC	0.537													T	98608823	C	T	98608823	3	4	172	1	0	0	0	0	1	0	0	0	16598	768	27	1	11228	1	TRRAP	7	98608823	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	75533	98608823	60529840	765	93877											
ZNF655	79027	broad.mit.edu	37	chr7	99170016	99170016	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtataagtctgaggacagAttagaaagacttcaggaaat	11	4	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:99170016A>T	uc003urh.2	+	3	678	c.285A>T	c.(283-285)AGA>AGT	p.R95S	ZNF655_uc010lga.2_Missense_Mutation_p.R130S|ZNF655_uc010lgc.2_Missense_Mutation_p.R130S|ZNF655_uc003urj.2_Missense_Mutation_p.R95S|ZNF655_uc003urk.2_5'UTR|ZNF655_uc010lgd.2_5'UTR	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	95					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTGAGGACAGATTAGAAAGAC	0.393													T	99170016	A	T	99170016	3	4	172	1	0	0	0	0	1	0	0	0	18065	330	12	5	822	5	ZNF655	7	99170016	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	561193	99170016	59968647	766	93878											
AP4M1	9179	broad.mit.edu	37	chr7	99701731	99701731	+	Frame_Shift_Del	DEL	T	T	-													tcagagccaaaagaatgaagTttttttggatgtggtcgaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:99701731delT	uc003utb.3	+	7	768	c.560delT	c.(559-561)GTTfs	p.V187fs	MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Frame_Shift_Del_p.V141fs|AP4M1_uc010lgl.1_Frame_Shift_Del_p.V187fs|AP4M1_uc003utc.3_Frame_Shift_Del_p.V194fs|AP4M1_uc010lgm.2_Frame_Shift_Del_p.V59fs|AP4M1_uc003utd.2_Frame_Shift_Del_p.V187fs|AP4M1_uc011kjh.1_Frame_Shift_Del_p.V139fs|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Frame_Shift_Del_p.V59fs	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	187	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAATGAAGTTTTTTTGGAT	0.438													-	99701731	T	-	99701731	7	5	172	1	0	1	0	1	0	0	0	0	753	1725	60	0	586	0	AP4M1	7	99701731	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	531715	99701731	59436932	767	93879											
MUC17	140453	broad.mit.edu	37	chr7	100681299	100681299	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctactgaagcccgttcatCtcctacaacttctgaaggta	6	12	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:100681299C>G	uc003uxp.1	+	3	6655	c.6602C>G	c.(6601-6603)TCT>TGT	p.S2201C	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2201	Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCGTTCATCTCCTACAACT	0.507													G	100681299	C	G	100681299	3	3	172	1	0	0	0	0	1	0	0	0	9974	913	32	5	6612	5	MUC17	7	100681299	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	979568	100681299	58457364	768	93880											
PMPCB	9512	broad.mit.edu	37	chr7	102940681	102940681	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagattgaaaatatgggtgcTcatctcaatgcctatacctc	8	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:102940681T>G	uc003vbl.2	+	4	418	c.384T>G	c.(382-384)GCT>GCG	p.A128A	PMPCB_uc010liu.1_Silent_p.A128A|PMPCB_uc003vbk.1_Silent_p.A128A|PMPCB_uc003vbm.2_Silent_p.A37A|PMPCB_uc010liv.2_Silent_p.A34A|PMPCB_uc010liw.2_Silent_p.A37A|PMPCB_uc011kll.1_Silent_p.A23A|PMPCB_uc011klm.1_Silent_p.A3A	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	128					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						ATATGGGTGCTCATCTCAATG	0.378													G	102940681	T	G	102940681	2	3	172	1	0	0	0	0	0	0	0	1	12141	1538	54	5		5	PMPCB	7	102940681	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2259382	102940681	56197982	769	93881											
SLC26A5	375611	broad.mit.edu	37	chr7	103030877	103030877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtccacattacacacaccTggggcaatgattcaaagagg	9	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:103030877T>C	uc003vbz.2	-	12	1546	c.1310A>G	c.(1309-1311)CAG>CGG	p.Q437R	SLC26A5_uc003vbt.1_Missense_Mutation_p.Q437R|SLC26A5_uc003vbu.1_Missense_Mutation_p.Q437R|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.Q437R|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	437	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TACACACACCTGGGGCAATGA	0.373													C	103030877	T	C	103030877	3	2	172	1	0	0	0	0	1	0	0	0	14520	1594	55	3	1001	3	SLC26A5	7	103030877	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	90196	103030877	56107786	770	93882											
SLC26A5	375611	broad.mit.edu	37	chr7	103050937	103050937	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcggtggtaaacccacgGaccagaggctctgtgagata	14	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:103050937G>A	uc003vbz.2	-	7	866	c.630C>T	c.(628-630)GTC>GTT	p.V210V	SLC26A5_uc003vbt.1_Silent_p.V210V|SLC26A5_uc003vbu.1_Silent_p.V210V|SLC26A5_uc003vbv.1_Silent_p.V210V|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.V210V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	210	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TAAACCCACGGACCAGAGGCT	0.413													A	103050937	G	A	103050937	2	1	172	1	0	0	0	0	0	0	0	1	14520	1161	41	4		4	SLC26A5	7	103050937	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	20060	103050937	56087726	771	93883											
MLL5	55904	broad.mit.edu	37	chr7	104753406	104753406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggcatcataccacaTcagctcaagccttacaccac	5	16	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:104753406T>C	uc003vcm.2	+	27	5737	c.5203T>C	c.(5203-5205)TCA>CCA	p.S1735P	MLL5_uc010ljc.2_Missense_Mutation_p.S1735P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.S469P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1735	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TCATACCACATCAGCTCAAGC	0.527													C	104753406	T	C	104753406	3	2	172	1	0	0	0	0	1	0	0	0	9624	1435	50	3	5301	3	MLL5	7	104753406	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1702469	104753406	54385257	772	93884											
MLL5	55904	broad.mit.edu	37	chr7	104753622	104753622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacagtattccaacacctActgcttcagggttctgtcct	6	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:104753622A>G	uc003vcm.2	+	27	5953	c.5419A>G	c.(5419-5421)ACT>GCT	p.T1807A	MLL5_uc010ljc.2_Missense_Mutation_p.T1807A|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_Missense_Mutation_p.T541A	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1807	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TCCAACACCTACTGCTTCAGG	0.562													G	104753622	A	G	104753622	3	3	172	1	0	0	0	0	1	0	0	0	9624	391	14	3	5517	3	MLL5	7	104753622	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	216	104753622	54385041	773	93885											
LAMB1	3912	broad.mit.edu	37	chr7	107638926	107638926	+	Frame_Shift_Del	DEL	T	T	-													tgggaattgcatatgaagcaTtttttgtcctcctacaaaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:107638925_107638925AT>A	uc003vev.2	-	1	459	c.298_298AT>T	c.(298-300)tgcfs	p.C100fs	LAMB1_uc003vew.2_Frame_Shift_Del_p.C76fs|LAMB1_uc003vex.3_Frame_Shift_Del_p.C76fs|LAMB1_uc010ljn.1_Frame_Shift_Del_p.C162fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	76	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			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)	CATATGAAGCATTTTTTGTCC	0.363													-	107638926	T	-	107638926	7	5	172	1	0	1	0	1	0	0	0	0	8610	1490	52	0	5259	0	LAMB1	7	107638926	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	2885304	107638926	51499737	774	93886											
PNPLA8	50640	broad.mit.edu	37	chr7	108155211	108155211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatcttaatttcccctctTctacctttttatcttcaagt	3	11	5	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:108155211T>C	uc003vff.1	-	4	1132	c.725A>G	c.(724-726)GAA>GGA	p.E242G	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.E242G|PNPLA8_uc003vfi.1_Missense_Mutation_p.E142G|PNPLA8_uc003vfj.1_Missense_Mutation_p.E242G|PNPLA8_uc003vfk.1_Missense_Mutation_p.E142G	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	242					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(2)	2						TTTCCCCTCTTCTACCTTTTT	0.383													C	108155211	T	C	108155211	3	2	172	1	0	0	0	0	1	0	0	0	12171	1783	62	3	1659	3	PNPLA8	7	108155211	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	516285	108155211	50983452	775	93887											
FOXP2	93986	broad.mit.edu	37	chr7	114268597	114268597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctttctgtgcaaggtGcctgtgtcagtggccatgat	11	9	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:114268597G>A	uc003vhb.2	+	4	635	c.261G>A	c.(259-261)GTG>GTA	p.V87V	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.V112V|FOXP2_uc003vha.2_5'UTR|FOXP2_uc011kmu.1_Silent_p.V87V|FOXP2_uc011kmv.1_Silent_p.V87V|FOXP2_uc010ljz.1_5'UTR|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.V87V|FOXP2_uc003vgw.2_Silent_p.V112V|FOXP2_uc003vgx.2_Silent_p.V87V|FOXP2_uc003vhd.2_Silent_p.V87V|FOXP2_uc003vhc.2_Silent_p.V112V	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	87	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			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TGTGCAAGGTGCCTGTGTCAG	0.423													A	114268597	G	A	114268597	2	1	172	1	0	0	0	0	0	0	0	1	6027	1306	46	2		2	FOXP2	7	114268597	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6113386	114268597	44870066	776	93888											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|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 JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	172	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	6703282	120971879	38166784	777	93889											
SLC13A1	6561	broad.mit.edu	37	chr7	122809232	122809232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtccgtggttggttgatcCgttgaagtaagtcatctgag	13	6	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:122809232C>T	uc003vkm.2	-	4	548	c.523G>A	c.(523-525)GGA>AGA	p.G175R	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	175						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTGGTTGATCCGTTGAAGTAA	0.473													T	122809232	C	T	122809232	3	4	172	1	0	0	0	0	1	0	0	0	14391	661	23	1	1312	1	SLC13A1	7	122809232	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1837353	122809232	36329431	778	93890											
PAX4	5078	broad.mit.edu	37	chr7	127255747	127255747	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtcaacgcaagctgcTttctttgagagctggctcac	11	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:127255747T>A	uc010lld.1	-	1	34	c.-172A>T	c.(-174--170)AAAGC>AATGC		PAX4_uc003vmf.2_5'Flank|PAX4_uc003vmg.1_Intron|PAX4_uc003vmh.2_5'Flank	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4						cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCAAGCTGCTTTCTTTGAGA	0.602													A	127255747	T	A	127255747	1	1	172	1	0	0	0	0	0	0	0	0	11481	1624	56	5		5	PAX4	7	127255747	Translation_Start_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4446515	127255747	31882916	779	93891											
SND1	27044	broad.mit.edu	37	chr7	127447559	127447559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataagaacaagaaactgcgtCccctgtatgacattccttac	6	11	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:127447559C>T	uc003vmi.2	+	11	1400	c.1174C>T	c.(1174-1176)CCC>TCC	p.P392S	SND1_uc010lle.2_Missense_Mutation_p.P45S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	392	Nuclear localization signal (Potential).|TNase-like 3.				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			ovary(2)|central_nervous_system(1)	3						GAAACTGCGTCCCCTGTATGA	0.353													T	127447559	C	T	127447559	3	4	172	1	0	0	0	0	1	0	0	0	14844	855	30	4	1216	4	SND1	7	127447559	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	191812	127447559	31691104	780	93892											
CCDC136	64753	broad.mit.edu	37	chr7	128452101	128452101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcaatgagaactgtcGcaagacttatgataccactg	8	12	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:128452101G>A	uc003vnv.1	+	13	2643	c.2276G>A	c.(2275-2277)CGC>CAC	p.R759H	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R575H|CCDC136_uc010llq.1_Missense_Mutation_p.R128H|CCDC136_uc003vny.1_Missense_Mutation_p.R369H	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	759						integral to membrane	protein binding			ovary(2)	2						GAGAACTGTCGCAAGACTTAT	0.478													A	128452101	G	A	128452101	3	1	172	1	0	0	0	0	1	0	0	0	2770	1087	38	1	2326	1	CCDC136	7	128452101	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1004542	128452101	30686562	781	93893											
FLNC	2318	broad.mit.edu	37	chr7	128470849	128470849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgagcacctcaagtgcgTgggcaagcgcctgaccgacc	12	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:128470849T>C	uc003vnz.3	+	1	367	c.158T>C	c.(157-159)GTG>GCG	p.V53A	FLNC_uc003voa.3_Missense_Mutation_p.V53A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	53	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CTCAAGTGCGTGGGCAAGCGC	0.642													C	128470849	T	C	128470849	3	2	172	1	0	0	0	0	1	0	0	0	5935	1696	59	3	160	3	FLNC	7	128470849	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	18748	128470849	30667814	782	93894											
PLXNA4	91584	broad.mit.edu	37	chr7	131831339	131831339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggtccccctccttctggTctccgtgctcgtggttcttc	9	18	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:131831339T>C	uc003vra.3	-	28	5214	c.4985A>G	c.(4984-4986)GAC>GGC	p.D1662G	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1662	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CTCCTTCTGGTCTCCGTGCTC	0.587													C	131831339	T	C	131831339	3	2	172	1	0	0	0	0	1	0	0	0	12122	1667	58	3	719	3	PLXNA4	7	131831339	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3360490	131831339	27307324	783	93895											
NUP205	23165	broad.mit.edu	37	chr7	135287555	135287555	+	Frame_Shift_Del	DEL	A	A	-													tttatttttggttgatagggAaaaaacacctggagaaagca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:135287555delA	uc003vsw.2	+	18	2546	c.2515delA	c.(2515-2517)AAAfs	p.K839fs		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	839					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GTTGATAGGGAAAAAACACCT	0.328													-	135287555	A	-	135287555	7	5	172	1	0	1	0	1	0	0	0	0	10759	247	9	0	2585	0	NUP205	7	135287555	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	3456216	135287555	23851108	784	93896											
NUP205	23165	broad.mit.edu	37	chr7	135292023	135292023	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgccctcggacatgcctTcacgccattctaaacatctt	7	14	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:135292023T>C	uc003vsw.2	+	22	3130	c.3099T>C	c.(3097-3099)CTT>CTC	p.L1033L		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1033					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GGACATGCCTTCACGCCATTC	0.458													C	135292023	T	C	135292023	2	2	172	1	0	0	0	0	0	0	0	1	10759	1770	62	3		3	NUP205	7	135292023	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4468	135292023	23846640	785	93897											
CHRM2	1129	broad.mit.edu	37	chr7	136700105	136700105	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcttctggcagttcAttgtaggggtgagaactgtg	12	8	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:136700105A>T	uc003vtf.1	+	4	1116	c.493A>T	c.(493-495)ATT>TTT	p.I165F	CHRM2_uc003vtg.1_Missense_Mutation_p.I165F|CHRM2_uc003vtj.1_Missense_Mutation_p.I165F|CHRM2_uc003vtk.1_Missense_Mutation_p.I165F|CHRM2_uc003vtl.1_Missense_Mutation_p.I165F|CHRM2_uc003vtm.1_Missense_Mutation_p.I165F|CHRM2_uc003vti.1_Missense_Mutation_p.I165F|CHRM2_uc003vto.1_Missense_Mutation_p.I165F|CHRM2_uc003vtn.1_Missense_Mutation_p.I165F|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	165	Extracellular (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	CTGGCAGTTCATTGTAGGGGT	0.507													T	136700105	A	T	136700105	3	4	172	1	0	0	0	0	1	0	0	0	3377	217	8	5	495	5	CHRM2	7	136700105	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1408082	136700105	22438558	786	93898											
SVOPL	136306	broad.mit.edu	37	chr7	138312947	138312947	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatcatggtccgatagtcaGagggtgcaaacatgtggcag	14	7	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:138312947G>A	uc011kqh.1	-	10	1025	c.1025C>T	c.(1024-1026)TCT>TTT	p.S342F	SVOPL_uc003vue.2_Missense_Mutation_p.S190F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	342						integral to membrane	transmembrane transporter activity				0						CCGATAGTCAGAGGGTGCAAA	0.552													A	138312947	G	A	138312947	3	1	172	1	0	0	0	0	1	0	0	0	15421	942	33	4	477	4	SVOPL	7	138312947	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1612842	138312947	20825716	787	93899											
JHDM1D	80853	broad.mit.edu	37	chr7	139826486	139826486	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccgaagtcaatgtggaaaTctgtatagctgtcttgaact	9	8	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:139826486T>A	uc003vvm.2	-	6	843	c.839A>T	c.(838-840)GAT>GTT	p.D280V		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	280	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					AATGTGGAAATCTGTATAGCT	0.403													A	139826486	T	A	139826486	3	1	172	1	0	0	0	0	1	0	0	0	7948	1435	50	5	2046	5	JHDM1D	7	139826486	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1513539	139826486	19312177	788	93900											
JHDM1D	80853	broad.mit.edu	37	chr7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-													atgtctgtgccagttcctccTttttttcactggatttttaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:139833447_139833447CT>C	uc003vvm.3	-	2	294	c.290_290AG>G	c.(289-291)aggfs	p.R97fs		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	97	Linker.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CCAGTTCCTCCTTTTTTTCAC	0.338													-	139833448	T	-	139833448	7	5	172	1	0	1	0	1	0	0	0	0	7948	1608	56	0	2608	0	JHDM1D	7	139833448	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	6962	139833448	19305215	789	93901											
KIAA1147	57189	broad.mit.edu	37	chr7	141365032	141365032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctctcgatgtcagccaCgttcacgtagaagaaaggtt	11	10	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:141365032C>T	uc003vwk.2	-	6	907	c.907G>A	c.(907-909)GTG>ATG	p.V303M		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	hypothetical protein LOC57189	303										ovary(1)	1	Melanoma(164;0.0171)					ATGTCAGCCACGTTCACGTAG	0.597													T	141365032	C	T	141365032	3	4	172	1	0	0	0	0	1	0	0	0	8210	536	19	1	476	1	KIAA1147	7	141365032	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1531584	141365032	17773631	790	93902											
WEE2	494551	broad.mit.edu	37	chr7	141408668	141408668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagaaagcagggaggcttCgagccaaaccccagagaagg	14	9	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:141408668C>T	uc003vwn.2	+	1	516	c.110C>T	c.(109-111)TCG>TTG	p.S37L	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	37					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			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					AGGGAGGCTTCGAGCCAAACC	0.468													T	141408668	C	T	141408668	3	4	172	1	0	0	0	0	1	0	0	0	17342	893	31	1	112	1	WEE2	7	141408668	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	43636	141408668	17729995	791	93903											
OR2F2	135948	broad.mit.edu	37	chr7	143632813	143632813	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtgcagactgctatcaCctttcagctgcccatgtgca	8	13	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:143632813C>G	uc011ktv.1	+	1	488	c.488C>G	c.(487-489)ACC>AGC	p.T163S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					ACTGCTATCACCTTTCAGCTG	0.522													G	143632813	C	G	143632813	3	3	172	1	0	0	0	0	1	0	0	0	10997	507	18	5	490	5	OR2F2	7	143632813	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2224145	143632813	15505850	792	93904											
NOBOX	135935	broad.mit.edu	37	chr7	144096175	144096176	+	Frame_Shift_Ins	INS	-	-	G													atcggcccttcgcacaggtgINSgggggctgaagagtgggggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:144096174_144096175T>TG	uc022aoj.1	-	7	1337_1338	c.1337_1338A>CA	c.(1336-1338)ccafs	p.P446fs		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	446	Pro-rich.				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)					TTCGCACAGGTGGGGGGCTGAA	0.629													G	144096176	-	G	144096175	7	5	172	1	0	1	1	0	0	0	0	0	10512	1348	47	0	750	0	NOBOX	7	144096175	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	463362	144096175	15042488	793	93905											
CUL1	8454	broad.mit.edu	37	chr7	148464776	148464776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggagaattgaaaaaactgTtggagacacacattcataat	8	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:148464776T>G	uc010lpg.2	+	9	1544	c.1018T>G	c.(1018-1020)TTG>GTG	p.L340V	CUL1_uc003wey.2_Missense_Mutation_p.L340V|CUL1_uc003wez.2_Missense_Mutation_p.L230V	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	340					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			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAAAAAACTGTTGGAGACACA	0.393													G	148464776	T	G	148464776	3	3	172	1	0	0	0	0	1	0	0	0	4054	1722	60	5	1048	5	CUL1	7	148464776	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4368601	148464776	10673887	794	93906											
ABP1	26	broad.mit.edu	37	chr7	150554663	150554663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacacctgcaggcatgcagAccaagtacctcgatgtcggc	10	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:150554663A>G	uc003why.1	+	3	5323	c.1105A>G	c.(1105-1107)ACC>GCC	p.T369A	ABP1_uc003whz.1_Missense_Mutation_p.T369A|ABP1_uc003wia.1_Missense_Mutation_p.T369A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	369					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGGCATGCAGACCAAGTACCT	0.622													G	150554663	A	G	150554663	3	3	172	1	0	0	0	0	1	0	0	0	98	275	10	3	1107	3	ABP1	7	150554663	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2089887	150554663	8584000	795	93907											
NOS3	4846	broad.mit.edu	37	chr7	150698398	150698399	+	Frame_Shift_Ins	INS	-	-	G													gagaatgagcagaaggccagINSggggggctgccctgcagact							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:150698397_150698398A>AG	uc003wif.3	+	10	1608_1609	c.1312_1313A>AG	c.(1312-1314)aggfs	p.R438fs	NOS3_uc011kuy.2_Frame_Shift_Ins_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Ins_p.R438fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	438	Interaction with NOSIP.				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	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme 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)	GCAGAAGGCCAGGGGGGGCTGC	0.614													G	150698399	-	G	150698398	7	5	172	1	0	1	1	0	0	0	0	0	10544	1000	35	0	1351	0	NOS3	7	150698398	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	143735	150698398	8440265	796	93908											
ACCN3	9311	broad.mit.edu	37	chr7	150747861	150747861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctgagcttcctgccacCgccctggggcgattgcagtt	12	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:150747861C>T	uc003win.2	+	4	1198	c.830C>T	c.(829-831)CCG>CTG	p.P277L	ACCN3_uc003wio.2_Missense_Mutation_p.P277L|ACCN3_uc003wip.2_Missense_Mutation_p.P277L|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	277	Extracellular (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	p.P277S(1)		ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTGCCACCGCCCTGGGGC	0.557													T	150747861	C	T	150747861	3	4	172	1	0	0	0	0	1	0	0	0	130	652	23	1	844	1	ACCN3	7	150747861	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	49463	150747861	8390802	797	93909											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	172	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1089018	151836879	7301784	798	93910											
MLL3	58508	broad.mit.edu	37	chr7	151891595	151891595	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacttaatggtcgtgaActctgattgacatttggctg	9	8	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:151891595A>G	uc003wla.2	-	29	4656	c.4437T>C	c.(4435-4437)AGT>AGC	p.S1479S	MLL3_uc003wkz.2_Silent_p.S540S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1479					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATGGTCGTGAACTCTGATTGA	0.393			N		medulloblastoma								G	151891595	A	G	151891595	2	3	172	1	0	0	0	0	0	0	0	1	9622	40	2	3		3	MLL3	7	151891595	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	54716	151891595	7247068	799	93911											
MLL3	58508	broad.mit.edu	37	chr7	151945528	151945530	+	In_Frame_Del	DEL	TGC	TGC	-													ctaacaactgcagttgttctTgctgcacagtgatctggtgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:151945528_151945530delTGC	uc003wla.2	-	14	2208_2210	c.1989_1991delGCA	c.(1987-1992)CAGCAA>CAA	p.663_664QQ>Q		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	663_664	Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGTTGTTCTTGCTGCACAGTGA	0.404			N		medulloblastoma								-	151945530	TGC	-	151945528	7	5	172	1	0	1	0	1	0	0	0	0	9622	1812	63	0	12928	0	MLL3	7	151945528	In_Frame_Del	DEL	TGC	TCGA-CG-4442-01A-01D-1158-08	53933	151945528	7193135	800	93912											
HTR5A	3361	broad.mit.edu	37	chr7	154863162	154863162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttggctggggagagacgTactctgagggcagcgaggag	18	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:154863162T>C	uc003wlu.1	+	1	617	c.553T>C	c.(553-555)TAC>CAC	p.Y185H	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	185	Extracellular (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	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)		GGGAGAGACGTACTCTGAGGG	0.632													C	154863162	T	C	154863162	3	2	172	1	0	0	0	0	1	0	0	0	7450	1638	57	3	555	3	HTR5A	7	154863162	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2917634	154863162	4275501	801	93913											
NOM1	64434	broad.mit.edu	37	chr7	156745292	156745292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaaaggtctacttaacaGgtgaccttgtagtgttgtta	10	5	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:156745292G>T	uc003wmy.2	+	2	1127	c.1112G>T	c.(1111-1113)AGG>ATG	p.R371M		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	371	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTACTTAACAGGTGACCTTGT	0.413													T	156745292	G	T	156745292	3	4	172	1	0	0	0	0	1	0	0	0	10530	1014	35	5	1118	5	NOM1	7	156745292	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1882130	156745292	2393371	802	93914											
WDR60	55112	broad.mit.edu	37	chr7	158711457	158711457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgttttgctggaagaggaTcgcttggcagctgaacccag	14	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr7:158711457T>C	uc003woe.3	+	15	1976	c.1818T>C	c.(1816-1818)GAT>GAC	p.D606D	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.D238D	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	606										ovary(2)|breast(1)|central_nervous_system(1)	4	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)		TGGAAGAGGATCGCTTGGCAG	0.428													C	158711457	T	C	158711457	2	2	172	1	0	0	0	0	0	0	0	1	17308	1432	50	3		3	WDR60	7	158711457	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1966165	158711457	427206	803	93915											
ZNF596	169270	broad.mit.edu	37	chr8	195403	195403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actctgcccttagaccacacAgtgtgactcacactagagag	8	13	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:195403A>C	uc003wot.2	+	6	844	c.556A>C	c.(556-558)AGT>CGT	p.S186R	ZNF596_uc003wou.2_Missense_Mutation_p.S85R|ZNF596_uc003wov.2_Missense_Mutation_p.S186R|ZNF596_uc003wow.2_Missense_Mutation_p.S186R	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TAGACCACACAGTGTGACTCA	0.378													C	195403	A	C	195403	3	2	172	1	0	0	0	0	1	0	0	0	18023	188	7	5	574	5	ZNF596	8	195403	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08		195403	146168619	804	93916											
DLGAP2	9228	broad.mit.edu	37	chr8	1649527	1649527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccgcctccgagcgcgcGgacagcatcgagatctacat	10	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:1649527G>A	uc003wpl.2	+	12	2980	c.2883G>A	c.(2881-2883)GCG>GCA	p.A961A	DLGAP2_uc003wpm.2_Silent_p.A947A	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	1040					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		CCGAGCGCGCGGACAGCATCG	0.701													A	1649527	G	A	1649527	2	1	172	1	0	0	0	0	0	0	0	1	4560	1103	39	1		1	DLGAP2	8	1649527	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1454124	1649527	144714495	805	93917											
MYOM2	9172	broad.mit.edu	37	chr8	2044108	2044108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccgtcccatccttatgGgattacgctcctcaactgtg	8	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:2044108G>A	uc003wpx.3	+	18	2285	c.2147G>A	c.(2146-2148)GGG>GAG	p.G716E	MYOM2_uc011kwi.1_Missense_Mutation_p.G141E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	716	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		CATCCTTATGGGATTACGCTC	0.617													A	2044108	G	A	2044108	3	1	172	1	0	0	0	0	1	0	0	0	10092	1232	43	4	2213	4	MYOM2	8	2044108	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	394581	2044108	144319914	806	93918											
MFHAS1	9258	broad.mit.edu	37	chr8	8749149	8749149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagctaagtcatacacgaTgaaccgcaggccccgggagg	12	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:8749149T>C	uc003wsj.1	-	1	1983	c.1420A>G	c.(1420-1422)ATC>GTC	p.I474V		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	474	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCATACACGATGAACCGCAGG	0.602													C	8749149	T	C	8749149	3	2	172	1	0	0	0	0	1	0	0	0	9521	1464	51	3	1750	3	MFHAS1	8	8749149	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6705041	8749149	137614873	807	93919											
PSD3	23362	broad.mit.edu	37	chr8	18729499	18729499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtttgacccggcctgggCgtcccatggagctgcttcga	13	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:18729499C>T	uc003wza.2	-	3	978	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	292					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCGGCCTGGGCGTCCCATGGA	0.527													T	18729499	C	T	18729499	3	4	172	1	0	0	0	0	1	0	0	0	12648	768	27	1	2360	1	PSD3	8	18729499	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9980350	18729499	127634523	808	93920											
LZTS1	11178	broad.mit.edu	37	chr8	20110461	20110461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtgcaggacctgctgCgcgcgctggctcttctgcga	15	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:20110461C>T	uc003wzr.2	-	2	1092	c.981G>A	c.(979-981)GCG>GCA	p.A327A	LZTS1_uc010ltg.1_Silent_p.A327A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	327	Potential.				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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGACCTGCTGCGCGCGCTGGC	0.677													T	20110461	C	T	20110461	2	4	172	1	0	0	0	0	0	0	0	1	9138	755	27	1		1	LZTS1	8	20110461	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1380962	20110461	126253561	809	93921											
LZTS1	11178	broad.mit.edu	37	chr8	20110845	20110845	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacggcttgtgggtcccacGggtgtgaccagcgggtccag	16	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:20110845G>T	uc003wzr.2	-	2	708	c.597C>A	c.(595-597)CCC>CCA	p.P199P	LZTS1_uc010ltg.1_Silent_p.P199P	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	199					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGGGTCCCACGGGTGTGACCA	0.632													T	20110845	G	T	20110845	2	4	172	1	0	0	0	0	0	0	0	1	9138	1103	39	5		5	LZTS1	8	20110845	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	384	20110845	126253177	810	93922											
XPO7	23039	broad.mit.edu	37	chr8	21835279	21835279	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtctttttcttccccAgccttcttagattcttcaac	3	13	5	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:21835279A>G	uc003xaa.3	+	8	866	c.764_splice	c.e8-2	p.A255_splice	XPO7_uc010lti.2_Splice_Site_p.A264_splice|XPO7_uc010ltk.2_Splice_Site_p.A256_splice	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b						mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TTTCTTCCCCAGCCTTCTTAG	0.428													G	21835279	A	G	21835279	5	3	172	1	0	0	0	0	0	0	1	0	17446	202	7	3	844	3	XPO7	8	21835279	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1724434	21835279	124528743	811	93923											
XPO7	23039	broad.mit.edu	37	chr8	21846547	21846547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtactggggccgttgtgaAccaatcacctccaagacact	9	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:21846547A>G	uc003xaa.3	+	16	1923	c.1821A>G	c.(1819-1821)GAA>GAG	p.E607E	XPO7_uc010lti.2_Silent_p.E616E|XPO7_uc010ltk.2_Silent_p.E608E	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	607					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCCGTTGTGAACCAATCACCT	0.458													G	21846547	A	G	21846547	2	3	172	1	0	0	0	0	0	0	0	1	17446	40	2	3		3	XPO7	8	21846547	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	11268	21846547	124517475	812	93924											
HR	55806	broad.mit.edu	37	chr8	21973915	21973915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggaagtgctgagtgacGctgactgtgctcaccaggcc	15	10	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:21973915G>A	uc003xas.2	-	18	4070	c.3405C>T	c.(3403-3405)AGC>AGT	p.S1135S	HR_uc003xat.2_Silent_p.S1080S	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1135	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTGAGTGACGCTGACTGTGC	0.627													A	21973915	G	A	21973915	2	1	172	1	0	0	0	0	0	0	0	1	7347	1078	38	1		1	HR	8	21973915	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	127368	21973915	124390107	813	93925											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23058108	23058108	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcacccatatattatgtcCattgcctgagaaaagacagg	7	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:23058108C>A	uc003xda.2	-	6	774	c.709G>T	c.(709-711)GGA>TGA	p.G237*		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	237	Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ATATTATGTCCATTGCCTGAG	0.512													A	23058108	C	A	23058108	4	1	172	1	0	0	0	0	0	1	0	0	16277	603	21	5	717	5	TNFRSF10A	8	23058108	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1084193	23058108	123305914	814	93926											
ADAM7	8756	broad.mit.edu	37	chr8	24323272	24323272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcagctgccagtatcagtAcgtgtaatggtctaaggtaa	10	7	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:24323272A>G	uc003xeb.2	+	5	486	c.373A>G	c.(373-375)ACG>GCG	p.T125A	ADAM7_uc003xea.1_Missense_Mutation_p.T125A	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	125	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGTATCAGTACGTGTAATGG	0.299													G	24323272	A	G	24323272	3	3	172	1	0	0	0	0	1	0	0	0	251	391	14	3	391	3	ADAM7	8	24323272	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1265164	24323272	122040750	815	93927											
DOCK5	80005	broad.mit.edu	37	chr8	25154129	25154129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcccatgaggtggccTccaaaaggattgaggaaaag	13	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:25154129T>C	uc003xeg.2	+	7	708	c.571T>C	c.(571-573)TCC>CCC	p.S191P	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.2_Missense_Mutation_p.S191P	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	191						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		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)		TGAGGTGGCCTCCAAAAGGAT	0.468													C	25154129	T	C	25154129	3	2	172	1	0	0	0	0	1	0	0	0	4690	1551	54	3	597	3	DOCK5	8	25154129	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	830857	25154129	121209893	816	93928											
GNRH1	2796	broad.mit.edu	37	chr8	25280721	25280721	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcttggaaagaatcAatcaaattttcggcatctct	5	10	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:25280721A>G	uc003xem.3	-	2	967	c.126T>C	c.(124-126)ATT>ATC	p.I42I	PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Silent_p.I42I	NM_001083111	NP_001076580	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 precursor	42					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		GGAAAGAATCAATCAAATTTT	0.423													G	25280721	A	G	25280721	2	3	172	1	0	0	0	0	0	0	0	1	6547	126	5	3		3	GNRH1	8	25280721	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	126592	25280721	121083301	817	93929											
CDCA2	157313	broad.mit.edu	37	chr8	25364904	25364904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgaaggtcttgtatggAtttcacttccacttccttcc	6	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:25364904A>G	uc003xep.1	+	15	3201	c.2722A>G	c.(2722-2724)ATT>GTT	p.I908V	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.I893V|CDCA2_uc003xer.1_Missense_Mutation_p.I571V	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	908					cell division|mitosis	cytoplasm|nucleus					0		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)		TCTTGTATGGATTTCACTTCC	0.403													G	25364904	A	G	25364904	3	3	172	1	0	0	0	0	1	0	0	0	3086	333	12	3	2776	3	CDCA2	8	25364904	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	84183	25364904	120999118	818	93930											
PTK2B	2185	broad.mit.edu	37	chr8	27287640	27287640	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatatgccccacaatgcActtgacaagaagtccaactt	7	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:27287640A>G	uc003xfn.1	+	11	1390	c.582A>G	c.(580-582)GCA>GCG	p.A194A	PTK2B_uc003xfo.1_Silent_p.A194A|PTK2B_uc003xfp.1_Silent_p.A194A|PTK2B_uc003xfq.1_Silent_p.A194A|PTK2B_uc010luq.1_5'Flank|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	194	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCCACAATGCACTTGACAAGA	0.537													G	27287640	A	G	27287640	2	3	172	1	0	0	0	0	0	0	0	1	12763	146	6	3		3	PTK2B	8	27287640	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1922736	27287640	119076382	819	93931											
EXTL3	2137	broad.mit.edu	37	chr8	28575031	28575031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggcggccctggtggtGccaaagcctcgtgttaccga	14	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:28575031G>A	uc003xgz.1	+	3	2048	c.1455G>A	c.(1453-1455)GTG>GTA	p.V485V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	485	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCTGGTGGTGCCAAAGCCTC	0.617													A	28575031	G	A	28575031	2	1	172	1	0	0	0	0	0	0	0	1	5327	1306	46	2		2	EXTL3	8	28575031	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1287391	28575031	117788991	820	93932											
KIF13B	23303	broad.mit.edu	37	chr8	28929788	28929788	+	Frame_Shift_Del	DEL	C	C	-													gcagatcttcaaggccggggCccccatcgtctgcaccagca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:28929788delC	uc003xhh.3	-	39	4626	c.4567delG	c.(4567-4569)GCCfs	p.A1523fs	KIF13B_uc011laz.1_Frame_Shift_Del_p.A42fs	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1523					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AAGGCCGGGGCCCCCATCGTC	0.637													-	28929788	C	-	28929788	7	5	172	1	0	1	0	1	0	0	0	0	8275	739	26	0	921	0	KIF13B	8	28929788	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	354757	28929788	117434234	821	93933											
TEX15	56154	broad.mit.edu	37	chr8	30702068	30702068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgattcttttgatttttgTactcagtattaacagttgat	6	5	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:30702068T>G	uc003xil.2	-	1	4466	c.4466A>C	c.(4465-4467)TAC>TCC	p.Y1489S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1489										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGATTTTTGTACTCAGTATT	0.333													G	30702068	T	G	30702068	3	3	172	1	0	0	0	0	1	0	0	0	15776	1638	57	5	3919	5	TEX15	8	30702068	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1772280	30702068	115661954	822	93934											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205098	38205098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcttgttgcttttttTcctcttttcttttctgcttt	5	9	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:38205098T>C	uc003xli.2	-	2	1110	c.592A>G	c.(592-594)AAA>GAA	p.K198E	WHSC1L1_uc011lbm.1_Missense_Mutation_p.K198E|WHSC1L1_uc010lwe.2_Missense_Mutation_p.K198E|WHSC1L1_uc003xlj.2_Missense_Mutation_p.K198E	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	198					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			TTGCTTTTTTTCCTCTTTTCT	0.393			T	NUP98	AML								C	38205098	T	C	38205098	3	2	172	1	0	0	0	0	1	0	0	0	17360	1792	62	3	3900	3	WHSC1L1	8	38205098	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	7503030	38205098	108158924	823	93935											
CHRNA6	8973	broad.mit.edu	37	chr8	42611529	42611529	+	Frame_Shift_Del	DEL	T	T	-													actgaaatacaaagcgtcacTttttcaccacagtccgaagg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:42611528_42611528CT>C	uc003xpj.3	-	4	1170	c.814_814AG>G	c.(814-816)gtgfs	p.V272fs	CHRNA6_uc011lcw.2_Frame_Shift_Del_p.V257fs	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	272						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)			CAAAGCGTCACTTTTTCACCA	0.438													-	42611529	T	-	42611529	7	5	172	1	0	1	0	1	0	0	0	0	3387	1606	56	0	679	0	CHRNA6	8	42611529	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	4406431	42611529	103752493	824	93936											
PRKDC	5591	broad.mit.edu	37	chr8	48740750	48740750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatacaagagacaaagggTggaaagaaagagaaggtggt	15	2	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:48740750T>C	uc003xqi.2	-	63	8613	c.8556A>G	c.(8554-8556)CCA>CCG	p.P2852P	PRKDC_uc003xqj.2_Silent_p.P2852P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2852	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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGACAAAGGGTGGAAAGAAAG	0.368								NHEJ					C	48740750	T	C	48740750	2	2	172	1	0	0	0	0	0	0	0	1	12521	1683	59	3		3	PRKDC	8	48740750	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6129221	48740750	97623272	825	93937											
PRKDC	5591	broad.mit.edu	37	chr8	48761849	48761849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttggcagcagaaagaaCacagcattcatgaacctggc	9	9	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:48761849C>T	uc003xqi.2	-	55	7203	c.7146G>A	c.(7144-7146)GTG>GTA	p.V2382V	PRKDC_uc003xqj.2_Silent_p.V2382V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2382					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCAGAAAGAACACAGCATTCA	0.527								NHEJ					T	48761849	C	T	48761849	2	4	172	1	0	0	0	0	0	0	0	1	12521	465	17	4		4	PRKDC	8	48761849	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	21099	48761849	97602173	826	93938											
MCM4	4173	broad.mit.edu	37	chr8	48888391	48888391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaactttttgaagatattCggggacaatctgacatagta	9	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:48888391C>T	uc003xqk.1	+	16	2577	c.2482C>T	c.(2482-2484)CGG>TGG	p.R828W	MCM4_uc003xql.1_Missense_Mutation_p.R828W|MCM4_uc011ldi.1_Missense_Mutation_p.R815W	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	828					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			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGAAGATATTCGGGGACAATC	0.308													T	48888391	C	T	48888391	3	4	172	1	0	0	0	0	1	0	0	0	9389	875	31	1	2540	1	MCM4	8	48888391	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	126542	48888391	97475631	827	93939											
ST18	9705	broad.mit.edu	37	chr8	53126792	53126792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttagagcgagtacgcagcGttttatcttcagcctctgca	9	11	3	1	rs145495470		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:53126792G>A	uc003xqz.2	-	2	182	c.26C>T	c.(25-27)ACG>ATG	p.T9M	ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.T9M|ST18_uc003xrb.2_Missense_Mutation_p.T9M|ST18_uc010lyb.2_RNA	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	9						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTACGCAGCGTTTTATCTTC	0.428													A	53126792	G	A	53126792	3	1	172	1	0	0	0	0	1	0	0	0	15211	1145	40	1	3197	1	ST18	8	53126792	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4238401	53126792	93237230	828	93940											
RB1CC1	9821	broad.mit.edu	37	chr8	53569170	53569170	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagcaaaatttttatTtcatcagtttctgcttcctt	3	10	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:53569170T>C	uc003xre.3	-	15	3777	c.3219A>G	c.(3217-3219)GAA>GAG	p.E1073E	RB1CC1_uc003xrf.3_Silent_p.E1073E	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1073	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAATTTTTATTTCATCAGTTT	0.368													C	53569170	T	C	53569170	2	2	172	1	0	0	0	0	0	0	0	1	13099	1838	64	3		3	RB1CC1	8	53569170	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	442378	53569170	92794852	829	93941											
TGS1	96764	broad.mit.edu	37	chr8	56699432	56699432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggaattagtaacataaaActgaattcagaggaagtaac	9	4	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:56699432A>G	uc003xsj.3	+	4	1362	c.975A>G	c.(973-975)AAA>AAG	p.K325K	TGS1_uc010lyh.2_Silent_p.K229K	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	325					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			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTAACATAAAACTGAATTCAG	0.363													G	56699432	A	G	56699432	2	3	172	1	0	0	0	0	0	0	0	1	15834	40	2	3		3	TGS1	8	56699432	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3130262	56699432	89664590	830	93942											
CHCHD7	79145	broad.mit.edu	37	chr8	57129070	57129070	+	Frame_Shift_Del	DEL	A	A	-													ccacttacttcttgaggtacAaaaactgccggagattctgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:57129069_57129069CA>C	uc003xsv.3	+	3	378	c.207_207CA>C	c.(205-207)tacfs	p.Y69fs	CHCHD7_uc003xsu.3_Frame_Shift_Del_p.Y56fs|CHCHD7_uc003xss.3_3'UTR|CHCHD7_uc003xst.3_3'UTR|CHCHD7_uc003xsx.3_Frame_Shift_Del_p.Y44fs|CHCHD7_uc003xsw.3_3'UTR	NM_001011668	NP_001011671	Q9BUK0	CHCH7_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 7 (CHCHD7), transcript variant 2, mRNA.	44									CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			TCTTGAGGTACAAAAACTGCC	0.418			T	PLAG1	salivary adenoma								-	57129070	A	-	57129070	7	5	172	1	0	1	0	1	0	0	0	0	3321	131	5	0	262	0	CHCHD7	8	57129070	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	429638	57129070	89234952	831	93943											
FAM110B	90362	broad.mit.edu	37	chr8	59059811	59059811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgaccgcgtgccgtatgGcatttctgccatcgaaagaa	10	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59059811G>A	uc003xtj.1	+	5	1902	c.1022G>A	c.(1021-1023)GGC>GAC	p.G341D		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	341						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTGCCGTATGGCATTTCTGCC	0.468													A	59059811	G	A	59059811	3	1	172	1	0	0	0	0	1	0	0	0	5397	1203	42	2	1024	2	FAM110B	8	59059811	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1930741	59059811	87304211	832	93944											
NSMAF	8439	broad.mit.edu	37	chr8	59502072	59502072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgccaacagatcttactaAcagcatcatcatgtcccatt	4	13	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59502072A>G	uc003xtt.2	-	26	2364	c.2150T>C	c.(2149-2151)GTT>GCT	p.V717A	NSMAF_uc011lee.1_Missense_Mutation_p.V748A	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	717	WD 3.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				GATCTTACTAACAGCATCATC	0.368													G	59502072	A	G	59502072	3	3	172	1	0	0	0	0	1	0	0	0	10674	43	2	3	627	3	NSMAF	8	59502072	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	442261	59502072	86861950	833	93945											
NSMAF	8439	broad.mit.edu	37	chr8	59548060	59548061	+	Frame_Shift_Ins	INS	-	-	A													gggatattgaatctggttcaINSaaaatcaccgattttgaaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59548059_59548060C>CA	uc011lee.2	-	2	349_350	c.288_289G>TG	c.(286-291)tttgaafs	p.F96fs	NSMAF_uc003xtt.3_Frame_Shift_Ins_p.F65fs	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	65					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)				GAATCTGGTTCAAAAATCACCG	0.317													A	59548061	-	A	59548060	7	5	172	1	0	1	1	0	0	0	0	0	10674	127	5	0	2674	0	NSMAF	8	59548060	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	45988	59548060	86815962	834	93946											
TOX	9760	broad.mit.edu	37	chr8	59739434	59739434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcaggtactccttctTcgcagcctcggttttctttt	7	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:59739434T>C	uc003xtw.1	-	6	1173	c.952A>G	c.(952-954)AAG>GAG	p.K318E		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	318	HMG box.					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		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)				TACTCCTTCTTCGCAGCCTCG	0.423													C	59739434	T	C	59739434	3	2	172	1	0	0	0	0	1	0	0	0	16374	1792	62	3	644	3	TOX	8	59739434	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	191374	59739434	86624588	835	93947											
CHD7	55636	broad.mit.edu	37	chr8	61654743	61654743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggcaccttccttgcgtcActcggtgcagcagttccatc	9	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:61654743A>G	uc003xue.2	+	2	1229	c.752A>G	c.(751-753)CAC>CGC	p.H251R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	251					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			TCCTTGCGTCACTCGGTGCAG	0.587													G	61654743	A	G	61654743	3	3	172	1	0	0	0	0	1	0	0	0	3330	159	6	3	754	3	CHD7	8	61654743	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1915309	61654743	84709279	836	93948											
CHD7	55636	broad.mit.edu	37	chr8	61778454	61778454	+	Frame_Shift_Del	DEL	G	G	-													aagagctagactcacttgatGggggggatgaaatagaaaac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:61778454delG	uc003xue.2	+	38	9433	c.8956delG	c.(8956-8958)GGGfs	p.G2986fs		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2986					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			CTCACTTGATGGGGGGGATGA	0.443													-	61778454	G	-	61778454	7	5	172	1	0	1	0	1	0	0	0	0	3330	1348	47	0	9102	0	CHD7	8	61778454	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	123711	61778454	84585568	837	93949											
BHLHE22	27319	broad.mit.edu	37	chr8	65494211	65494211	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatcgccacgctgctgctCgccaagaactacatcctcat	7	15	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:65494211C>T	uc003xvi.2	+	1	1398	c.864C>T	c.(862-864)CTC>CTT	p.L288L	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	288	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CGCTGCTGCTCGCCAAGAACT	0.667													T	65494211	C	T	65494211	2	4	172	1	0	0	0	0	0	0	0	1	1421	871	31	1		1	BHLHE22	8	65494211	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3715757	65494211	80869811	838	93950											
RRS1	23212	broad.mit.edu	37	chr8	67341501	67341501	+	Frame_Shift_Del	DEL	C	C	-													ctgctggcgtcggaccggaaCcccccgaccgggctgcggtg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67341501delC	uc003xwa.2	+	1	239	c.135delC	c.(133-135)AACfs	p.N45fs		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	45					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		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)			CGGACCGGAACCCCCCGACCG	0.672											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	67341501	C	-	67341501	7	5	172	1	0	1	0	1	0	0	0	0	13692	506	18	0	137	0	RRS1	8	67341501	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	1847290	67341501	79022521	839	93951											
C8orf46	254778	broad.mit.edu	37	chr8	67405952	67405952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaccgtgattccttccaaGggtgagtgaaattgcccttg	10	11	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67405952G>T	uc003xwg.2	+	1	462	c.69G>T	c.(67-69)AAG>AAT	p.K23N	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.K23N	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	23										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTCCTTCCAAGGGTGAGTGAA	0.498													T	67405952	G	T	67405952	3	4	172	1	0	0	0	0	1	0	0	0	2431	1014	35	5	71	5	C8orf46	8	67405952	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	64451	67405952	78958070	840	93952											
C8orf45	157777	broad.mit.edu	37	chr8	67796162	67796162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctagtacagacaactgacCgtaacaaggaactggaagat	10	8	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67796162C>T	uc003xwz.3	+	9	1177	c.1006C>T	c.(1006-1008)CGT>TGT	p.R336C	C8orf45_uc003xwv.2_Missense_Mutation_p.R336C|C8orf45_uc011lev.1_Missense_Mutation_p.R336C|C8orf45_uc011lew.1_Missense_Mutation_p.R267C|C8orf45_uc011lex.1_Missense_Mutation_p.R94C|C8orf45_uc003xwy.3_Missense_Mutation_p.R336C	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	336					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GACAACTGACCGTAACAAGGA	0.353													T	67796162	C	T	67796162	3	4	172	1	0	0	0	0	1	0	0	0	2430	652	23	1	1036	1	C8orf45	8	67796162	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	390210	67796162	78567860	841	93953											
C8orf45	157777	broad.mit.edu	37	chr8	67803170	67803170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctactgaaatttttcccActctatccaggaataagtat	4	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67803170A>G	uc003xwz.3	+	10	1315	c.1144A>G	c.(1144-1146)ACT>GCT	p.T382A	C8orf45_uc011lev.1_Missense_Mutation_p.T382A|C8orf45_uc011lew.1_Missense_Mutation_p.T313A|C8orf45_uc011lex.1_Missense_Mutation_p.T140A|C8orf45_uc003xwy.3_Missense_Mutation_p.T382A	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	382					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATTTTTCCCACTCTATCCAG	0.408													G	67803170	A	G	67803170	3	3	172	1	0	0	0	0	1	0	0	0	2430	159	6	3	1178	3	C8orf45	8	67803170	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	7008	67803170	78560852	842	93954											
LRRC67	286187	broad.mit.edu	37	chr8	67922971	67922971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacatgcagaagttggttGtcaacggctatgagctgatt	11	7	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:67922971G>A	uc003xxc.2	-	5	676	c.531C>T	c.(529-531)GAC>GAT	p.D177D		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	177	LRR 7.										0						GAAGTTGGTTGTCAACGGCTA	0.279													A	67922971	G	A	67922971	2	1	172	1	0	0	0	0	0	0	0	1	9019	1368	48	4		4	LRRC67	8	67922971	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	119801	67922971	78441051	843	93955											
PREX2	80243	broad.mit.edu	37	chr8	68992721	68992722	+	Frame_Shift_Ins	INS	-	-	T													atgaacccctacttttccgtINStttttttcggatgaggaaat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:68992720_68992721G>GT	uc003xxv.1	+	15	1712_1713	c.1685_1686G>GT	c.(1684-1686)cgtfs	p.R562fs	PREX2_uc003xxu.1_Frame_Shift_Ins_p.R562fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.R497fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						CTACTTTTCCGTTTTTTTTCGG	0.332													T	68992722	-	T	68992721	7	5	172	1	0	1	1	0	0	0	0	0	12477	1712	60	0	1748	0	PREX2	8	68992721	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1069750	68992721	77371301	844	93956											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744467	70744467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaattacgctgctcaggtAcccagagaccattaacgcct	9	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:70744467A>G	uc003xyl.2	-	2	1149	c.442T>C	c.(442-444)TAC>CAC	p.Y148H	SLCO5A1_uc010lzb.2_Missense_Mutation_p.Y148H|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.Y148H|SLCO5A1_uc010lzc.2_Missense_Mutation_p.Y148H	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	148	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTGCTCAGGTACCCAGAGACC	0.552											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	70744467	A	G	70744467	3	3	172	1	0	0	0	0	1	0	0	0	14731	391	14	3	2140	3	SLCO5A1	8	70744467	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1751746	70744467	75619555	845	93957											
TRPA1	8989	broad.mit.edu	37	chr8	72967924	72967924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagactgacccttacctgGctgcaaaatgcagaggtgat	11	10	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:72967924G>A	uc003xza.2	-	11	1536	c.1361C>T	c.(1360-1362)GCC>GTC	p.A454V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	454	ANK 11.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CCCTTACCTGGCTGCAAAATG	0.383													A	72967924	G	A	72967924	3	1	172	1	0	0	0	0	1	0	0	0	16574	1203	42	2	2066	2	TRPA1	8	72967924	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2223457	72967924	73396098	846	93958											
TRPA1	8989	broad.mit.edu	37	chr8	72981394	72981394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttttttctacagcacaaTgcagaggggtatttccataa	9	7	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:72981394T>C	uc003xza.2	-	3	483	c.308A>G	c.(307-309)CAT>CGT	p.H103R		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	103	Cytoplasmic (Potential).|ANK 2.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TACAGCACAATGCAGAGGGGT	0.393													C	72981394	T	C	72981394	3	2	172	1	0	0	0	0	1	0	0	0	16574	1464	51	3	3151	3	TRPA1	8	72981394	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	13470	72981394	73382628	847	93959											
KCNB2	9312	broad.mit.edu	37	chr8	73480397	73480398	+	Frame_Shift_Ins	INS	-	-	A													tgccaggccagatatcatcaINSaaaaaaagaacaaatgaacg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:73480396_73480397C>CA	uc003xzb.3	+	1	1015_1016	c.427_428C>CA	c.(427-429)caafs	p.Q143fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(2)|p.E146fs*3(1)		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)			CAGATATCATCAAAAAAAAGAA	0.446													A	73480398	-	A	73480397	7	5	172	1	0	1	1	0	0	0	0	0	8013	130	5	0	430	0	KCNB2	8	73480397	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	499003	73480397	72883625	848	93960											
KCNB2	9312	broad.mit.edu	37	chr8	73849583	73849583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggacctgctgccagggatGgcacgctggagtatgcccca	14	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:73849583G>T	uc003xzb.2	+	3	2581	c.1993G>T	c.(1993-1995)GGC>TGC	p.G665C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	665	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGCCAGGGATGGCACGCTGGA	0.562													T	73849583	G	T	73849583	3	4	172	1	0	0	0	0	1	0	0	0	8013	1348	47	5	1999	5	KCNB2	8	73849583	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	369186	73849583	72514439	849	93961											
PI15	51050	broad.mit.edu	37	chr8	75737657	75737657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatatccccaaagccaggcGgaagcgctacatttcgcaga	11	12	0	1	rs141788887	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:75737657G>A	uc003yal.2	+	2	352	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R58Q	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	58						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AAAGCCAGGCGGAAGCGCTAC	0.448													A	75737657	G	A	75737657	3	1	172	1	0	0	0	0	1	0	0	0	11868	1116	39	1	175	1	PI15	8	75737657	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1888074	75737657	70626365	850	93962											
ZFHX4	79776	broad.mit.edu	37	chr8	77617547	77617548	+	Frame_Shift_Ins	INS	-	-	G													caaaggctgaagtgaatctgINSggggggctgtctagtttagt					rs13252403		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77617546_77617547T>TG	uc003yau.2	+	1	1610_1611	c.1223_1224T>TG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	408						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)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			G	77617548	-	G	77617547	7	5	172	1	0	1	1	0	0	0	0	0	17632	1335	47	0	1226	0	ZFHX4	8	77617547	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1879890	77617547	68746475	851	93963											
ZFHX4	79776	broad.mit.edu	37	chr8	77768496	77768496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttctccccggaatgaaCggtccatcctccttgccggg	10	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77768496C>T	uc003yav.2	+	10	9591	c.9204C>T	c.(9202-9204)AAC>AAT	p.N3068N	ZFHX4_uc003yau.1_Silent_p.N3113N|ZFHX4_uc003yaw.1_Silent_p.N3068N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3068	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGGAATGAACGGTCCATCCT	0.517										HNSCC(33;0.089)			T	77768496	C	T	77768496	2	4	172	1	0	0	0	0	0	0	0	1	17632	535	19	1		1	ZFHX4	8	77768496	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	150949	77768496	68595526	852	93964											
ZFHX4	79776	broad.mit.edu	37	chr8	77775799	77775799	+	Frame_Shift_Del	DEL	G	G	-													cagctccctggaacagtgcaGgggggatacttcccacctgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77775798_77775798AG>A	uc003yau.2	+	10	10235	c.9848_9848AG>A	c.(9847-9849)cagfs	p.Q3283fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3234						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)			GGAACAGTGCAGGGGGGATAC	0.532										HNSCC(33;0.089)			-	77775799	G	-	77775799	7	5	172	1	0	1	0	1	0	0	0	0	17632	991	35	0	9887	0	ZFHX4	8	77775799	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	7303	77775799	68588223	853	93965											
PEX2	5828	broad.mit.edu	37	chr8	77896243	77896243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaacccataagcacgCtttcacctctggctcaaagc	6	14	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:77896243C>T	uc003yax.2	-	4	630	c.172G>A	c.(172-174)GCG>ACG	p.A58T	PEX2_uc003yay.2_Missense_Mutation_p.A58T|PEX2_uc003yaz.2_Missense_Mutation_p.A58T	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	58					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						CATAAGCACGCTTTCACCTCT	0.438													T	77896243	C	T	77896243	3	4	172	1	0	0	0	0	1	0	0	0	11745	797	28	2	749	2	PEX2	8	77896243	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	120444	77896243	68467779	854	93966											
WWP1	11059	broad.mit.edu	37	chr8	87393036	87393036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtagatggagaaattaCgaaaacagcaaaatccagta	9	5	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:87393036C>T	uc003ydt.2	+	4	432	c.152C>T	c.(151-153)ACG>ATG	p.T51M	WWP1_uc010mai.2_Translation_Start_Site	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	51	C2.				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			lung(1)|liver(1)	2						GGAGAAATTACGAAAACAGCA	0.343													T	87393036	C	T	87393036	3	4	172	1	0	0	0	0	1	0	0	0	17412	536	19	1	158	1	WWP1	8	87393036	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9496793	87393036	58970986	855	93967											
CNGB3	54714	broad.mit.edu	37	chr8	87591466	87591466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagttcgacggtttcctcctCctgctgctagaaggctgtaa	10	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:87591466C>G	uc003ydx.2	-	16	1842	c.1796G>C	c.(1795-1797)GGA>GCA	p.G599A	CNGB3_uc010maj.2_Missense_Mutation_p.G456A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	599	Cytoplasmic (Potential).|cGMP (By similarity).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTTTCCTCCTCCTGCTGCTAG	0.413													G	87591466	C	G	87591466	3	3	172	1	0	0	0	0	1	0	0	0	3601	855	30	5	645	5	CNGB3	8	87591466	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	198430	87591466	58772556	856	93968											
RIPK2	8767	broad.mit.edu	37	chr8	90784971	90784971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaatgaagaaagtttgccAtatgatatacctcaccgagc	7	8	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:90784971A>G	uc003yee.2	+	6	1082	c.768A>G	c.(766-768)CCA>CCG	p.P256P	RIPK2_uc003yef.2_Silent_p.P119P	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	256	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			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AAAGTTTGCCATATGATATAC	0.363													G	90784971	A	G	90784971	2	3	172	1	0	0	0	0	0	0	0	1	13381	204	8	3		3	RIPK2	8	90784971	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3193505	90784971	55579051	857	93969											
CDH17	1015	broad.mit.edu	37	chr8	95142918	95142918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagtgggtatcccagtctgGtgacctgctggccggaaaca	13	11	1	1	rs141222335	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95142918G>T	uc003ygh.2	-	17	2459	c.2334C>A	c.(2332-2334)CAC>CAA	p.H778Q	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.H778Q	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	778	Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCCAGTCTGGTGACCTGCTG	0.448													T	95142918	G	T	95142918	3	4	172	1	0	0	0	0	1	0	0	0	3102	1252	44	5	172	5	CDH17	8	95142918	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4357947	95142918	51221104	858	93970											
RAD54B	25788	broad.mit.edu	37	chr8	95384421	95384421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccagtagcttgagtggTtatattctgaaaaatgaatg	11	4	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95384421T>C	uc003ygk.2	-	15	2808	c.2710A>G	c.(2710-2712)ACC>GCC	p.T904A		NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTTGAGTGGTTATATTCTGA	0.299								Direct_reversal_of_damage|Homologous_recombination					C	95384421	T	C	95384421	3	2	172	1	0	0	0	0	1	0	0	0	12992	1725	60	3	26	3	RAD54B	8	95384421	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	241503	95384421	50979601	859	93971											
ESRP1	54845	broad.mit.edu	37	chr8	95680231	95680231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaatcaagtcattgtccGcatgcgggggctccctttca	11	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95680231G>A	uc003ygq.3	+	10	1169	c.986G>A	c.(985-987)CGC>CAC	p.R329H	ESRP1_uc003ygr.3_Missense_Mutation_p.R329H|ESRP1_uc003ygs.3_Missense_Mutation_p.R329H|ESRP1_uc003ygt.3_Missense_Mutation_p.R329H|ESRP1_uc003ygu.3_Missense_Mutation_p.R329H|ESRP1_uc003ygv.2_Missense_Mutation_p.R169H|ESRP1_uc003ygw.2_Missense_Mutation_p.R169H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	329	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						GTCATTGTCCGCATGCGGGGG	0.488													A	95680231	G	A	95680231	3	1	172	1	0	0	0	0	1	0	0	0	5258	1087	38	1	1024	1	ESRP1	8	95680231	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	295810	95680231	50683791	860	93972											
DPY19L4	286148	broad.mit.edu	37	chr8	95800209	95800209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacctaattgtagaggatGctatctgcaatgaggtggga	12	5	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:95800209G>A	uc003ygx.2	+	18	2060	c.1936G>A	c.(1936-1938)GCT>ACT	p.A646T		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	646						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					TGTAGAGGATGCTATCTGCAA	0.348													A	95800209	G	A	95800209	3	1	172	1	0	0	0	0	1	0	0	0	4743	1319	46	2	2006	2	DPY19L4	8	95800209	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	119978	95800209	50563813	861	93973											
POP1	10940	broad.mit.edu	37	chr8	99170251	99170251	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgtggctgggcaggaagctCtgactctagggctgtggtca	16	10	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:99170251C>A	uc003yij.3	+	16	2927	c.2827C>A	c.(2827-2829)CTG>ATG	p.L943M	POP1_uc011lgv.1_Missense_Mutation_p.L943M|POP1_uc003yik.2_Missense_Mutation_p.L943M	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	943					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCAGGAAGCTCTGACTCTAGG	0.493													A	99170251	C	A	99170251	3	1	172	1	0	0	0	0	1	0	0	0	12251	912	32	5	2885	5	POP1	8	99170251	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3370042	99170251	47193771	862	93974											
KCNS2	3788	broad.mit.edu	37	chr8	99440298	99440298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcttcaagaggaggctgCgctcgcacacgctgctgcgc	15	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:99440298C>T	uc003yin.2	+	2	441	c.91C>T	c.(91-93)CGC>TGC	p.R31C		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	31	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GAGGAGGCTGCGCTCGCACAC	0.647													T	99440298	C	T	99440298	3	4	172	1	0	0	0	0	1	0	0	0	8089	768	27	1	93	1	KCNS2	8	99440298	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	270047	99440298	46923724	863	93975											
VPS13B	157680	broad.mit.edu	37	chr8	100108587	100108587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaccaaccgtagtactgcTgagagcacaaaatcatcaat	6	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:100108587T>C	uc003yiv.2	+	4	450	c.339T>C	c.(337-339)GCT>GCC	p.A113A	VPS13B_uc003yiw.2_Silent_p.A113A|VPS13B_uc003yit.2_Silent_p.A113A|VPS13B_uc003yiu.1_Silent_p.A113A|VPS13B_uc003yis.2_Silent_p.A113A|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	113					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTAGTACTGCTGAGAGCACAA	0.393													C	100108587	T	C	100108587	2	2	172	1	0	0	0	0	0	0	0	1	17187	1567	55	3		3	VPS13B	8	100108587	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	668289	100108587	46255435	864	93976											
VPS13B	157680	broad.mit.edu	37	chr8	100133550	100133550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgtgagttatgacgaTggcgaggaagactttgttgg	15	4	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:100133550T>C	uc003yiv.2	+	8	1194	c.1083T>C	c.(1081-1083)GAT>GAC	p.D361D	VPS13B_uc003yiw.2_Silent_p.D361D|VPS13B_uc003yit.2_Silent_p.D361D|VPS13B_uc003yiu.1_Silent_p.D361D|VPS13B_uc003yis.2_Silent_p.D361D|VPS13B_uc011lgy.1_Silent_p.D237D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	361					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTATGACGATGGCGAGGAAG	0.443													C	100133550	T	C	100133550	2	2	172	1	0	0	0	0	0	0	0	1	17187	1461	51	3		3	VPS13B	8	100133550	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	24963	100133550	46230472	865	93977											
RGS22	26166	broad.mit.edu	37	chr8	101076179	101076181	+	In_Frame_Del	DEL	CTT	CTT	-													agacacctcttcttcttctcCttcttcttcttcaaattcag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:101076178_101076180CCTT>C	uc003yjb.1	-	7	1011_1013	c.816_818AAGG>G	c.(814-819)gaagga>gaGa	p.G273del	RGS22_uc003yja.1_In_Frame_Del_p.G92del|RGS22_uc003yjc.1_In_Frame_Del_p.G261del|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_In_Frame_Del_p.G177del	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	273	Poly-Glu.				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)			ttcttcttctccttcttcttctt	0.369													-	101076181	CTT	-	101076179	7	5	172	1	0	1	0	1	0	0	0	0	13305	690	24	0	3057	0	RGS22	8	101076179	In_Frame_Del	DEL	CTT	TCGA-CG-4442-01A-01D-1158-08	942629	101076179	45287843	866	93978											
UBR5	51366	broad.mit.edu	37	chr8	103292631	103292631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcactaactttgattggTgtcatcatcattttcatgtt	7	7	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:103292631T>C	uc003ykr.1	-	42	6025	c.5992A>G	c.(5992-5994)ACC>GCC	p.T1998A	UBR5_uc003yks.1_Missense_Mutation_p.T1998A	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1998					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			CTTTGATTGGTGTCATCATCA	0.358													C	103292631	T	C	103292631	3	2	172	1	0	0	0	0	1	0	0	0	16902	1696	59	3	2479	3	UBR5	8	103292631	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2216452	103292631	43071391	867	93979											
RIMS2	9699	broad.mit.edu	37	chr8	104898446	104898446	+	Frame_Shift_Del	DEL	A	A	-													tgaaagtgagagtgtaagtgAaaaaggtaagctttctaatc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:104898445_104898445GA>G	uc003yls.3	+	1	1193	c.952_952GA>G	c.(952-954)gaafs	p.E318fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.E540fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.E348fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.E348fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.E348fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	571					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion 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)			GAGTGTAAGTGAAAAAGGTAA	0.343										HNSCC(12;0.0054)			-	104898446	A	-	104898446	7	5	172	1	0	1	0	1	0	0	0	0	13368	246	9	0	1759	0	RIMS2	8	104898446	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1605815	104898446	41465576	868	93980											
SYBU	55638	broad.mit.edu	37	chr8	110656869	110656869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcgctccttaccttgCtctcgcggaggggccccatc	11	19	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:110656869C>T	uc003ynj.3	-	1	183	c.20G>A	c.(19-21)AGC>AAC	p.S7N	SYBU_uc003yni.3_5'Flank|SYBU_uc003ynk.3_5'UTR|SYBU_uc010mco.2_Missense_Mutation_p.S7N|SYBU_uc003ynl.3_Missense_Mutation_p.S7N|SYBU_uc010mcp.2_Missense_Mutation_p.S7N|SYBU_uc010mcq.2_Missense_Mutation_p.S7N|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Missense_Mutation_p.S7N|SYBU_uc003ynm.3_Missense_Mutation_p.S7N|SYBU_uc003ynn.3_Missense_Mutation_p.S7N|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Missense_Mutation_p.S7N|SYBU_uc010mcu.2_Missense_Mutation_p.S7N|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Missense_Mutation_p.S7N|uc003ynq.1_Intron	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	7	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCTTACCTTGCTCTCGCGGAG	0.736													T	110656869	C	T	110656869	3	4	172	1	0	0	0	0	1	0	0	0	15424	797	28	2	2014	2	SYBU	8	110656869	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	5758423	110656869	35707153	869	93981											
TRPS1	7227	broad.mit.edu	37	chr8	116430589	116430589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtagaggccacacgcgTtgcatacatatccgccattt	9	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:116430589T>C	uc003ynz.2	-	5	3212	c.2753A>G	c.(2752-2754)AAC>AGC	p.N918S	TRPS1_uc011lhy.1_Missense_Mutation_p.N922S|TRPS1_uc003yny.2_Missense_Mutation_p.N931S|TRPS1_uc010mcy.2_Missense_Mutation_p.N918S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	918	GATA-type.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			GCCACACGCGTTGCATACATA	0.483									Langer-Giedion_syndrome				C	116430589	T	C	116430589	3	2	172	1	0	0	0	0	1	0	0	0	16590	1725	60	3	1100	3	TRPS1	8	116430589	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5773720	116430589	29933433	870	93982											
TAF2	6873	broad.mit.edu	37	chr8	120795639	120795639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttgcaagacagaagcaAgctgacattcttactctgta	7	10	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:120795639A>G	uc003you.2	-	16	2364	c.2094T>C	c.(2092-2094)GCT>GCC	p.A698A		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	698					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			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GACAGAAGCAAGCTGACATTC	0.353													G	120795639	A	G	120795639	2	3	172	1	0	0	0	0	0	0	0	1	15521	59	3	3		3	TAF2	8	120795639	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4365050	120795639	25568383	871	93983											
TAF2	6873	broad.mit.edu	37	chr8	120818521	120818521	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatatactcttggtgctttAccatcaacgtgtttccatag	6	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:120818521A>G	uc003you.2	-	4	688	c.418_splice	c.e4+1	p.E140_splice		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2						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			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGGTGCTTTACCATCAACGT	0.368													G	120818521	A	G	120818521	5	3	172	1	0	0	0	0	0	0	1	0	15521	405	14	3	3271	3	TAF2	8	120818521	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	22882	120818521	25545501	872	93984											
SNTB1	6641	broad.mit.edu	37	chr8	121554212	121554212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcataatgtatggtcaaAcggcactcctggtttttgta	8	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:121554212A>G	uc010mdg.2	-	6	1588	c.1362T>C	c.(1360-1362)CGT>CGC	p.R454R		NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	454					muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTATGGTCAAACGGCACTCCT	0.418													G	121554212	A	G	121554212	2	3	172	1	0	0	0	0	0	0	0	1	14872	30	2	3		3	SNTB1	8	121554212	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	735691	121554212	24809810	873	93985											
HAS2	3037	broad.mit.edu	37	chr8	122641434	122641434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgccaaaaaggcaccAtacagtccaaaagagaaata	8	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:122641434A>G	uc003yph.2	-	2	685	c.147T>C	c.(145-147)TAT>TAC	p.Y49Y		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	49	Helical; Name=2; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	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)			AAAAGGCACCATACAGTCCAA	0.413													G	122641434	A	G	122641434	2	3	172	1	0	0	0	0	0	0	0	1	6962	224	8	3		3	HAS2	8	122641434	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1087222	122641434	23722588	874	93986											
ZHX2	22882	broad.mit.edu	37	chr8	123964129	123964129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagtacgactccctatccGaccacaactccaagttccat	4	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:123964129G>A	uc003ypk.1	+	3	946	c.379G>A	c.(379-381)GAC>AAC	p.D127N		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	127	C2H2-type 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCCCTATCCGACCACAACTC	0.478													A	123964129	G	A	123964129	3	1	172	1	0	0	0	0	1	0	0	0	17673	1058	37	1	381	1	ZHX2	8	123964129	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1322695	123964129	22399893	875	93987											
FAM83A	84985	broad.mit.edu	37	chr8	124204041	124204041	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcactctgccctggcccAggtcctggtcatcctgatgg	12	14	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:124204041A>G	uc003ypv.2	+	3	2495	c.481_splice	c.e3-2	p.V161_splice	FAM83A_uc003ypw.2_Splice_Site_p.V161_splice|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.2_Splice_Site_p.V161_splice|FAM83A_uc003ypz.2_Splice_Site_p.V161_splice	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a											ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCCTGGCCCAGGTCCTGGTC	0.562													G	124204041	A	G	124204041	5	3	172	1	0	0	0	0	0	0	1	0	5633	202	7	3	485	3	FAM83A	8	124204041	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	239912	124204041	22159981	876	93988											
ZHX1	11244	broad.mit.edu	37	chr8	124266020	124266020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctctgatagtagtagtAccatttcaagtttccattct	8	9	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:124266020A>G	uc003yqe.2	-	3	2597	c.2167T>C	c.(2167-2169)TAC>CAC	p.Y723H	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Y723H|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Y723H	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	723					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TAGTAGTAGTACCATTTCAAG	0.468													G	124266020	A	G	124266020	3	3	172	1	0	0	0	0	1	0	0	0	17672	391	14	3	458	3	ZHX1	8	124266020	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	61979	124266020	22098002	877	93989											
ATAD2	29028	broad.mit.edu	37	chr8	124340720	124340720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaattttgtgatctatgGcattctggctatcatccttt	6	9	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:124340720G>A	uc003yqh.3	-	25	3686	c.3578C>T	c.(3577-3579)GCC>GTC	p.A1193V	ATAD2_uc011lii.1_Missense_Mutation_p.A984V|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGATCTATGGCATTCTGGCT	0.408													A	124340720	G	A	124340720	3	1	172	1	0	0	0	0	1	0	0	0	1071	1203	42	2	610	2	ATAD2	8	124340720	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	74700	124340720	22023302	878	93990											
FER1L6	654463	broad.mit.edu	37	chr8	125080031	125080032	+	Frame_Shift_Ins	INS	-	-	A													aggagagaaatcccaagggaINSaaaaaaggcaatacaggtaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:125080030_125080031G>GA	uc003yqw.3	+	27	3907_3908	c.3701_3702G>GA	c.(3700-3702)ggafs	p.G1234fs	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1234						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)			AATCCCAAGGGAAAAAAAGGCA	0.391													A	125080032	-	A	125080031	7	5	172	1	0	1	1	0	0	0	0	0	5815	233	9	0	3808	0	FER1L6	8	125080031	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	739311	125080031	21283991	879	93991											
FER1L6	654463	broad.mit.edu	37	chr8	125131154	125131154	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcctgttggaaaagccCgaaaggagccagagcccctg	11	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:125131154C>T	uc003yqw.2	+	40	5565	c.5359C>T	c.(5359-5361)CGA>TGA	p.R1787*	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1787	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGAAAAGCCCGAAAGGAGCC	0.498													T	125131154	C	T	125131154	4	4	172	1	0	0	0	0	0	1	0	0	5815	644	23	1	5513	1	FER1L6	8	125131154	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	51123	125131154	21232868	880	93992											
SQLE	6713	broad.mit.edu	37	chr8	126011817	126011817	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtctcctcgggcgccagCagagcggctcccagttcgcc	15	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:126011817C>T	uc011liq.1	+	1	1098	c.172C>T	c.(172-174)CAG>TAG	p.Q58*		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	58				Q -> R (in Ref. 1; BAA22372).	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	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)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CGGGCGCCAGCAGAGCGGCTC	0.602													T	126011817	C	T	126011817	4	4	172	1	0	0	0	0	0	1	0	0	15127	711	25	2	174	2	SQLE	8	126011817	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	880663	126011817	20352205	881	93993											
SQLE	6713	broad.mit.edu	37	chr8	126021227	126021227	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttataggaactccatgctccActgactgttgttgcagatgg	10	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:126021227A>G	uc011liq.1	+	5	1763	c.837A>G	c.(835-837)CCA>CCG	p.P279P		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	279					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	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)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TCCATGCTCCACTGACTGTTG	0.383													G	126021227	A	G	126021227	2	3	172	1	0	0	0	0	0	0	0	1	15127	146	6	3		3	SQLE	8	126021227	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	9410	126021227	20342795	882	93994											
FAM49B	51571	broad.mit.edu	37	chr8	130861526	130861526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaatgctcccactggaTgtacgtggtcatagagtatt	10	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:130861526T>C	uc003yss.2	-	13	1352	c.803A>G	c.(802-804)CAT>CGT	p.H268R	FAM49B_uc003yst.2_Missense_Mutation_p.H268R|FAM49B_uc003ysu.2_Missense_Mutation_p.H268R|FAM49B_uc003ysv.2_Missense_Mutation_p.H122R|FAM49B_uc003ysw.2_Missense_Mutation_p.H268R|FAM49B_uc003ysx.2_Missense_Mutation_p.H268R|FAM49B_uc003ysy.1_Missense_Mutation_p.H268R	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	hypothetical protein LOC51571	268											0	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TCCCACTGGATGTACGTGGTC	0.358													C	130861526	T	C	130861526	3	2	172	1	0	0	0	0	1	0	0	0	5576	1464	51	3	183	3	FAM49B	8	130861526	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4840299	130861526	15502496	883	93995											
ASAP1	50807	broad.mit.edu	37	chr8	131124450	131124450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggctccataggagagcCgctgtttgtcccttggagtg	14	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:131124450C>T	uc003yta.1	-	23	2319	c.2291G>A	c.(2290-2292)CGG>CAG	p.R764Q	ASAP1_uc003ysz.1_Missense_Mutation_p.R575Q|ASAP1_uc011liw.1_Missense_Mutation_p.R757Q	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	764					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			ovary(4)	4						ATAGGAGAGCCGCTGTTTGTC	0.597													T	131124450	C	T	131124450	3	4	172	1	0	0	0	0	1	0	0	0	1010	652	23	1	1126	1	ASAP1	8	131124450	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	262924	131124450	15239572	884	93996											
ASAP1	50807	broad.mit.edu	37	chr8	131172152	131172152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccttcttttcactgccaTattccttattgccctggagc	5	15	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:131172152T>C	uc003yta.1	-	11	996	c.968A>G	c.(967-969)TAT>TGT	p.Y323C	ASAP1_uc003ysz.1_Missense_Mutation_p.Y134C|ASAP1_uc011liw.1_Missense_Mutation_p.Y316C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	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			ovary(4)	4						TTCACTGCCATATTCCTTATT	0.438													C	131172152	T	C	131172152	3	2	172	1	0	0	0	0	1	0	0	0	1010	1406	49	3	2497	3	ASAP1	8	131172152	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	47702	131172152	15191870	885	93997											
ASAP1	50807	broad.mit.edu	37	chr8	131226861	131226861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacttgacaaacgcggTgccaaggtcggggttgtctc	13	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:131226861T>C	uc003yta.1	-	4	374	c.346A>G	c.(346-348)ACC>GCC	p.T116A	ASAP1_uc011liw.1_Missense_Mutation_p.T109A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	116					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			ovary(4)	4						ACAAACGCGGTGCCAAGGTCG	0.353													C	131226861	T	C	131226861	3	2	172	1	0	0	0	0	1	0	0	0	1010	1696	59	3	3147	3	ASAP1	8	131226861	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	54709	131226861	15137161	886	93998											
KCNQ3	3786	broad.mit.edu	37	chr8	133142242	133142242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttccccatgtcctgaAcctggaaaatcaaaggagct	8	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:133142242A>G	uc003ytj.2	-	15	2111	c.1886T>C	c.(1885-1887)GTT>GCT	p.V629A	KCNQ3_uc010mdt.2_Missense_Mutation_p.V617A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	629					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATGTCCTGAACCTGGAAAAT	0.443													G	133142242	A	G	133142242	3	3	172	1	0	0	0	0	1	0	0	0	8084	57	2	3	736	3	KCNQ3	8	133142242	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1915381	133142242	13221780	887	93999											
ST3GAL1	6482	broad.mit.edu	37	chr8	134477028	134477028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagggactcactgggaaaTggtgcccgtggtgatggcgc	18	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:134477028T>C	uc003yuk.2	-	7	1505	c.676A>G	c.(676-678)ATT>GTT	p.I226V	ST3GAL1_uc003yum.2_Missense_Mutation_p.I226V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	226	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	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)			CACTGGGAAATGGTGCCCGTG	0.642													C	134477028	T	C	134477028	3	2	172	1	0	0	0	0	1	0	0	0	15213	1464	51	3	362	3	ST3GAL1	8	134477028	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1334786	134477028	11886994	888	94000											
PSCA	8000	broad.mit.edu	37	chr8	143763436	143763436	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagaagaacatcacgtgCtgtgacaccgacttgtgcaa	11	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:143763436C>A	uc003ywu.2	+	3	313	c.258C>A	c.(256-258)TGC>TGA	p.C86*	uc003ywt.1_5'Flank	NM_005672	NP_005663	O43653	PSCA_HUMAN	prostate stem cell antigen preproprotein	77											0	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)					ACATCACGTGCTGTGACACCG	0.627													A	143763436	C	A	143763436	4	1	172	1	0	0	0	0	0	1	0	0	12645	805	28	5	241	5	PSCA	8	143763436	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9286408	143763436	2600586	889	94001											
ZC3H3	23144	broad.mit.edu	37	chr8	144620193	144620193	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttgtgctgctgcgtctccgGatgatcttggtgcggctctt	13	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144620193G>T	uc003yyd.2	-	2	1373	c.1344C>A	c.(1342-1344)ATC>ATA	p.I448I		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	448					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			TGCGTCTCCGGATGATCTTGG	0.617													T	144620193	G	T	144620193	2	4	172	1	0	0	0	0	0	0	0	1	17566	1164	41	5		5	ZC3H3	8	144620193	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	856757	144620193	1743829	890	94002											
FAM83H	286077	broad.mit.edu	37	chr8	144811260	144811260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtccgtacgcgcaggAactggggagggaggggagtc	18	10	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144811260A>G	uc003yzk.2	-	4	683	c.614T>C	c.(613-615)TTC>TCC	p.F205S	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	205					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			TACGCGCAGGAACTGGGGAGG	0.627													G	144811260	A	G	144811260	3	3	172	1	0	0	0	0	1	0	0	0	5640	260	9	3	2933	3	FAM83H	8	144811260	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	191067	144811260	1552762	891	94003											
SCRIB	23513	broad.mit.edu	37	chr8	144891811	144891811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagccgacgggccctcGggctcagcctcagagactgt	13	16	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144891811G>A	uc003yzp.1	-	14	1615	c.1608C>T	c.(1606-1608)CCC>CCT	p.P536P	SCRIB_uc003yzo.1_Silent_p.P536P	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	536	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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGGGCCCTCGGGCTCAGCCT	0.662													A	144891811	G	A	144891811	2	1	172	1	0	0	0	0	0	0	0	1	13937	1103	39	1		1	SCRIB	8	144891811	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	80551	144891811	1472211	892	94004											
PLEC	5339	broad.mit.edu	37	chr8	144993053	144993053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcctcagccgtgaggcGgcggcgcacgtagtcgtagg	17	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144993053G>A	uc003zaf.1	-	32	11517	c.11347C>T	c.(11347-11349)CGC>TGC	p.R3783C	PLEC_uc003zab.1_Missense_Mutation_p.R3646C|PLEC_uc003zac.1_Missense_Mutation_p.R3650C|PLEC_uc003zad.2_Missense_Mutation_p.R3646C|PLEC_uc003zae.1_Missense_Mutation_p.R3614C|PLEC_uc003zag.1_Missense_Mutation_p.R3624C|PLEC_uc003zah.2_Missense_Mutation_p.R3632C|PLEC_uc003zaj.2_Missense_Mutation_p.R3673C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3783	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCGTGAGGCGGCGGCGCACG	0.602													A	144993053	G	A	144993053	3	1	172	1	0	0	0	0	1	0	0	0	12052	1116	39	1	2711	1	PLEC	8	144993053	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	101242	144993053	1370969	893	94005											
PLEC	5339	broad.mit.edu	37	chr8	144994803	144994803	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgatgtgcccggtgccGgcctgggcttccaacagggc	15	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144994803G>T	uc003zaf.1	-	32	9767	c.9597C>A	c.(9595-9597)GCC>GCA	p.A3199A	PLEC_uc003zab.1_Silent_p.A3062A|PLEC_uc003zac.1_Silent_p.A3066A|PLEC_uc003zad.2_Silent_p.A3062A|PLEC_uc003zae.1_Silent_p.A3030A|PLEC_uc003zag.1_Silent_p.A3040A|PLEC_uc003zah.2_Silent_p.A3048A|PLEC_uc003zaj.2_Silent_p.A3089A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3199	Globular 2.|Plectin 8.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCCGGTGCCGGCCTGGGCTT	0.652													T	144994803	G	T	144994803	2	4	172	1	0	0	0	0	0	0	0	1	12052	1103	39	5		5	PLEC	8	144994803	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1750	144994803	1369219	894	94006											
PLEC	5339	broad.mit.edu	37	chr8	144999422	144999422	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtacctgccgcgctcGctccacctcggcctgccgca	9	21	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:144999422G>A	uc003zaf.1	-	31	5256	c.5086C>T	c.(5086-5088)CGA>TGA	p.R1696*	PLEC_uc003zab.1_Nonsense_Mutation_p.R1559*|PLEC_uc003zac.1_Nonsense_Mutation_p.R1563*|PLEC_uc003zad.2_Nonsense_Mutation_p.R1559*|PLEC_uc003zae.1_Nonsense_Mutation_p.R1527*|PLEC_uc003zag.1_Nonsense_Mutation_p.R1537*|PLEC_uc003zah.2_Nonsense_Mutation_p.R1545*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R1586*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1696	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCCGCGCTCGCTCCACCTCG	0.741													A	144999422	G	A	144999422	4	1	172	1	0	0	0	0	0	1	0	0	12052	1095	38	1	8976	1	PLEC	8	144999422	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4619	144999422	1364600	895	94007											
GRINA	2907	broad.mit.edu	37	chr8	145066963	145066963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacacagacatcatcaAcatcttcctgtacatcctca	3	15	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:145066963A>G	uc003zan.1	+	7	1236	c.1070A>G	c.(1069-1071)AAC>AGC	p.N357S	GRINA_uc003zao.1_Missense_Mutation_p.N357S|GRINA_uc003zap.1_Missense_Mutation_p.N357S	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	357	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	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)			GACATCATCAACATCTTCCTG	0.597													G	145066963	A	G	145066963	3	3	172	1	0	0	0	0	1	0	0	0	6785	43	2	3	1092	3	GRINA	8	145066963	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	67541	145066963	1297059	896	94008											
OPLAH	26873	broad.mit.edu	37	chr8	145107485	145107485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggaatgaccacgcgcActggcgccaggcagccctgt	14	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:145107485A>G	uc003zar.3	-	23	3252	c.3170T>C	c.(3169-3171)GTG>GCG	p.V1057A		NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1057							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	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)	GACCACGCGCACTGGCGCCAG	0.731													G	145107485	A	G	145107485	3	3	172	1	0	0	0	0	1	0	0	0	10876	159	6	3	718	3	OPLAH	8	145107485	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	40522	145107485	1256537	897	94009											
COMMD5	28991	broad.mit.edu	37	chr8	146076258	146076258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctacatccacccgccaccGaaagtcagcaacatgcggca	8	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr8:146076258G>A	uc003zem.2	-	2	597	c.466C>T	c.(466-468)CGG>TGG	p.R156W	COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.R156W|COMMD5_uc003zeo.3_Missense_Mutation_p.R156W|COMMD5_uc010mgf.2_Missense_Mutation_p.R156W	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	156	COMM.					nucleus	protein binding			ovary(1)	1	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)			ACCCGCCACCGAAAGTCAGCA	0.637													A	146076258	G	A	146076258	3	1	172	1	0	0	0	0	1	0	0	0	3719	1057	37	1	212	1	COMMD5	8	146076258	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	968773	146076258	287764	898	94010											
DOCK8	81704	broad.mit.edu	37	chr9	382611	382611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggcccgggtgatgAgcagcagtaacccagacctc	13	13	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:382611A>G	uc003zgf.2	+	22	2816	c.2704A>G	c.(2704-2706)AGC>GGC	p.S902G	DOCK8_uc010mgu.2_Missense_Mutation_p.S204G|DOCK8_uc010mgv.2_Missense_Mutation_p.S834G|DOCK8_uc010mgw.1_Missense_Mutation_p.S204G|DOCK8_uc003zgk.2_Missense_Mutation_p.S360G	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	902					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		CCGGGTGATGAGCAGCAGTAA	0.577													G	382611	A	G	382611	3	3	172	1	0	0	0	0	1	0	0	0	4693	304	11	3	2790	3	DOCK8	9	382611	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08		382611	140830820	899	94011											
KANK1	23189	broad.mit.edu	37	chr9	711872	711872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggataaaggagttccggcAacttacagcagacatgcaag	12	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:711872A>G	uc003zgl.1	+	7	1755	c.1106A>G	c.(1105-1107)CAA>CGA	p.Q369R	KANK1_uc003zgm.2_Missense_Mutation_p.Q369R|KANK1_uc003zgn.1_Missense_Mutation_p.Q369R|KANK1_uc003zgo.1_Missense_Mutation_p.Q369R|KANK1_uc003zgp.1_Missense_Mutation_p.Q369R|KANK1_uc003zgq.2_Missense_Mutation_p.Q211R|KANK1_uc003zgr.1_Missense_Mutation_p.Q211R|KANK1_uc003zgs.1_Missense_Mutation_p.Q211R	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	369	Potential.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		GAGTTCCGGCAACTTACAGCA	0.552													G	711872	A	G	711872	3	3	172	1	0	0	0	0	1	0	0	0	7976	130	5	3	1112	3	KANK1	9	711872	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	329261	711872	140501559	900	94012											
SMARCA2	6595	broad.mit.edu	37	chr9	2123850	2123850	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggctcacctgtgaagaAgaggaggagaaaatatttgg	14	4	1	4	rs141291951		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:2123850A>G	uc003zhc.2	+	27	3993	c.3894A>G	c.(3892-3894)GAA>GAG	p.E1298E	SMARCA2_uc003zhd.2_Silent_p.E1298E|SMARCA2_uc010mha.2_Silent_p.E1231E	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1298	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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGTGAAGAAGAGGAGGAGA	0.562													G	2123850	A	G	2123850	2	3	172	1	0	0	0	0	0	0	0	1	14769	69	3	3		3	SMARCA2	9	2123850	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1411978	2123850	139089581	901	94013											
RANBP6	26953	broad.mit.edu	37	chr9	6014994	6014994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcaagtacaaatgcagctGcagctctagcggataatgtc	10	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:6014994G>A	uc003zjr.2	-	1	625	c.614C>T	c.(613-615)GCA>GTA	p.A205V	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	205	Poly-Ala.				protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAATGCAGCTGCAGCTCTAGC	0.423													A	6014994	G	A	6014994	3	1	172	1	0	0	0	0	1	0	0	0	13031	1319	46	2	2707	2	RANBP6	9	6014994	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3891144	6014994	135198437	902	94014											
GLDC	2731	broad.mit.edu	37	chr9	6645245	6645245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggtggaggtccttacCgccagccccaaggtctgcag	15	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:6645245C>T	uc003zkc.2	-	1	448	c.255G>A	c.(253-255)GCG>GCA	p.A85A		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	85					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGTCCTTACCGCCAGCCCCA	0.706													T	6645245	C	T	6645245	2	4	172	1	0	0	0	0	0	0	0	1	6433	666	23	1		1	GLDC	9	6645245	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	630251	6645245	134568186	903	94015											
MPDZ	8777	broad.mit.edu	37	chr9	13125277	13125277	+	Frame_Shift_Del	DEL	T	T	-													tcagagactgggagctgttcTttttttctccactggctgca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:13125277delT	uc010mia.1	-	34	4802	c.4745delA	c.(4744-4746)AAGfs	p.K1582fs	MPDZ_uc003zky.3_Frame_Shift_Del_p.K144fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.K287fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.K404fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.K441fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.K275fs|MPDZ_uc010mhy.2_Frame_Shift_Del_p.K1582fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.K1549fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.K1549fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.K1582fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1582					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GGAGCTGTTCTTTTTTTCTCC	0.517													-	13125277	T	-	13125277	7	5	172	1	0	1	0	1	0	0	0	0	9722	1609	56	0	1428	0	MPDZ	9	13125277	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	6480032	13125277	128088154	904	94016											
IFNA7	3444	broad.mit.edu	37	chr9	21201793	21201793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaccccaacctcctgTatcacacatgcttccaggtc	4	18	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:21201793T>C	uc003zop.1	-	1	412	c.372A>G	c.(370-372)ATA>ATG	p.I124M	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	124					blood coagulation|cell-cell signaling|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				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAACCTCCTGTATCACACATG	0.458													C	21201793	T	C	21201793	3	2	172	1	0	0	0	0	1	0	0	0	7542	1628	57	3	201	3	IFNA7	9	21201793	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	8076516	21201793	120011638	905	94017											
CDKN2A	1029	broad.mit.edu	37	chr9	21971106	21971106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagccctcccgggcagcGtcgtgcacgggtcgggtgag	18	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:21971106G>A	uc003zpk.2	-	2	464	c.252C>T	c.(250-252)GAC>GAT	p.D84D	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R140C	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	84	ANK 3.		D -> E (in a bladder tumor).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> H (in non-small cell lung carcinoma).		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 binding|protein kinase binding	p.0?(1112)|p.?(13)|p.D84Y(9)|p.D84V(4)|p.D84N(3)|p.D84fs*63(2)|p.D84G(2)|p.D84H(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.D84D(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84fs*0(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		CCCGGGCAGCGTCGTGCACGG	0.741		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			A	21971106	G	A	21971106	2	1	172	1	0	0	0	0	0	0	0	1	3161	1145	40	1		1	CDKN2A	9	21971106	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	769313	21971106	119242325	906	94018											
LRRC19	64922	broad.mit.edu	37	chr9	26995768	26995768	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgggcatttgatagcaatAaaaatgagaagtgaagtcgt	11	3	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:26995768A>G	uc003zqh.2	-	5	975	c.864T>C	c.(862-864)TTT>TTC	p.F288F	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	288	Helical; (Potential).					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TGATAGCAATAAAAATGAGAA	0.373													G	26995768	A	G	26995768	2	3	172	1	0	0	0	0	0	0	0	1	8975	359	13	3		3	LRRC19	9	26995768	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	5024662	26995768	114217663	907	94019											
UBAP2	55833	broad.mit.edu	37	chr9	33948391	33948397	+	Frame_Shift_Del	DEL	GGACTGG	GGACTGG	-													ccaagatgactgaggactgaGgactgggatgttgggggctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:33948390_33948396AGGACTGG>A	uc003ztq.1	-	12	1359_1365	c.1246_1252CCAGTCCT>T	c.(1246-1254)cagtcctcafs	p.Q416fs	UBAP2_uc011loc.1_Frame_Shift_Del_p.Q325fs|UBAP2_uc011lod.1_Frame_Shift_Del_p.Q149fs|UBAP2_uc011loe.1_Frame_Shift_Del_p.Q171fs|UBAP2_uc011lof.1_Frame_Shift_Del_p.Q341fs|UBAP2_uc011log.1_Frame_Shift_Del_p.Q362fs|UBAP2_uc003ztr.2_Frame_Shift_Del_p.Q288fs|UBAP2_uc003zts.3_Frame_Shift_Del_p.Q49fs	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	416										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)		CTGAGGACTGAGGACTGGGATGTTGGG	0.483													-	33948397	GGACTGG	-	33948391	7	5	172	1	0	1	0	1	0	0	0	0	16834	987	35	0	2176	0	UBAP2	9	33948391	Frame_Shift_Del	DEL	GGACTGG	TCGA-CG-4442-01A-01D-1158-08	6952623	33948391	107265040	908	94020											
KIF24	347240	broad.mit.edu	37	chr9	34297077	34297077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatacatcctgattggtgcaCgcctcaccaaagacttcatc	6	13	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:34297077C>T	uc003zua.3	-	4	969	c.849G>A	c.(847-849)GCG>GCA	p.A283A	KIF24_uc010mkb.2_Silent_p.A314A	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	283	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			GATTGGTGCACGCCTCACCAA	0.308													T	34297077	C	T	34297077	2	4	172	1	0	0	0	0	0	0	0	1	8292	523	19	1		1	KIF24	9	34297077	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	348686	34297077	106916354	909	94021											
IL11RA	3590	broad.mit.edu	37	chr9	34658640	34658640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcctgctcaagttccGtttgcagtaccgtccggcgc	9	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:34658640G>A	uc003zvi.2	+	8	2126	c.770G>A	c.(769-771)CGT>CAT	p.R257H	IL11RA_uc011loq.1_Missense_Mutation_p.R257H|IL11RA_uc003zvj.2_Missense_Mutation_p.R257H|IL11RA_uc003zvk.2_Missense_Mutation_p.R257H|IL11RA_uc010mke.2_Missense_Mutation_p.R139H|IL11RA_uc003zvl.2_RNA	NM_004512	NP_004503	Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha isoform 1	257	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			skin(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CTCAAGTTCCGTTTGCAGTAC	0.642													A	34658640	G	A	34658640	3	1	172	1	0	0	0	0	1	0	0	0	7623	1145	40	1	796	1	IL11RA	9	34658640	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	361563	34658640	106554791	910	94022											
UNC13B	10497	broad.mit.edu	37	chr9	35380612	35380612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttcggaccctaagtggcGagatggacgtctggtacaac	14	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:35380612G>A	uc003zwq.2	+	17	2396	c.2104G>A	c.(2104-2106)GAG>AAG	p.E702K	UNC13B_uc003zwr.2_Missense_Mutation_p.E702K	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	702					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCTAAGTGGCGAGATGGACGT	0.488													A	35380612	G	A	35380612	3	1	172	1	0	0	0	0	1	0	0	0	16982	1059	37	1	2170	1	UNC13B	9	35380612	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	721972	35380612	105832819	911	94023											
UNC13B	10497	broad.mit.edu	37	chr9	35381108	35381108	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttcctagagaagaggacaGacaaatcagccgtctcaggg	11	11	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:35381108G>T	uc003zwq.2	+	18	2432	c.2140G>T	c.(2140-2142)GAC>TAC	p.D714Y	UNC13B_uc003zwr.2_Missense_Mutation_p.D714Y	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	714					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGAGGACAGACAAATCAGC	0.483													T	35381108	G	T	35381108	3	4	172	1	0	0	0	0	1	0	0	0	16982	942	33	5	2210	5	UNC13B	9	35381108	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	496	35381108	105832323	912	94024											
CLTA	1211	broad.mit.edu	37	chr9	36199078	36199078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaagaacaaatggaaCgcttggaagcccttggtaag	14	6	0	2	rs138031703		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:36199078C>T	uc003zzc.2	+	3	520	c.358C>T	c.(358-360)CGC>TGC	p.R120C	CLTA_uc003zzd.2_Missense_Mutation_p.R120C|CLTA_uc003zze.2_Missense_Mutation_p.R120C|CLTA_uc011lpk.1_Missense_Mutation_p.R120C|CLTA_uc003zzf.1_RNA	NM_007096	NP_009027	P09496	CLCA_HUMAN	clathrin, light polypeptide A isoform b	120	Involved in binding clathrin heavy chain.				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|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			ACAAATGGAACGCTTGGAAGC	0.423													T	36199078	C	T	36199078	3	4	172	1	0	0	0	0	1	0	0	0	3564	536	19	1	368	1	CLTA	9	36199078	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	817970	36199078	105014353	913	94025											
GNE	10020	broad.mit.edu	37	chr9	36249330	36249330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacacaaacccgcagctttCggttatttccattcttctcc	4	15	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:36249330C>T	uc010mlh.2	-	2	238	c.23G>A	c.(22-24)CGA>CAA	p.R8Q	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R8Q|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Missense_Mutation_p.R39Q|GNE_uc010mlj.2_Intron	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	8	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			CCGCAGCTTTCGGTTATTTCC	0.363													T	36249330	C	T	36249330	3	4	172	1	0	0	0	0	1	0	0	0	6522	884	31	1	2189	1	GNE	9	36249330	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	50252	36249330	104964101	914	94026											
MELK	9833	broad.mit.edu	37	chr9	36589562	36589562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccggatcaaaacggagatTgaggccttgaagaacctgag	12	10	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:36589562T>C	uc003zzn.2	+	4	312	c.174T>C	c.(172-174)ATT>ATC	p.I58I	MELK_uc011lpm.1_5'UTR|MELK_uc011lpn.1_Silent_p.I58I|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.I26I|MELK_uc011lpp.1_Silent_p.I58I|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.I58I|MELK_uc011lps.1_Silent_p.I26I	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	58	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAACGGAGATTGAGGCCTTGA	0.408													C	36589562	T	C	36589562	2	2	172	1	0	0	0	0	0	0	0	1	9470	1800	63	3		3	MELK	9	36589562	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	340232	36589562	104623869	915	94027											
ZBTB5	9925	broad.mit.edu	37	chr9	37441103	37441103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcccatcacctcctgCataggcctgacgaagtggga	13	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:37441103C>T	uc003zzx.2	-	2	1646	c.1446G>A	c.(1444-1446)ATG>ATA	p.M482I		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCACCTCCTGCATAGGCCTGA	0.592													T	37441103	C	T	37441103	3	4	172	1	0	0	0	0	1	0	0	0	17548	710	25	2	591	2	ZBTB5	9	37441103	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	851541	37441103	103772328	916	94028											
ZBTB5	9925	broad.mit.edu	37	chr9	37441822	37441822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccatcagctttaggatTatccacaattttcagagaat	5	9	2	1	rs139375543	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:37441822T>C	uc003zzx.2	-	2	927	c.727A>G	c.(727-729)AAT>GAT	p.N243D		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GCTTTAGGATTATCCACAATT	0.463													C	37441822	T	C	37441822	3	2	172	1	0	0	0	0	1	0	0	0	17548	1754	61	3	1310	3	ZBTB5	9	37441822	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	719	37441822	103771609	917	94029											
FAM122A	116224	broad.mit.edu	37	chr9	71395787	71395788	+	Frame_Shift_Del	DEL	GT	GT	-													tgcacagctgtcagatcctgGtgtgtgtgtatcttcggata							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:71395787_71395788delGT	uc004agw.1	+	1	824_825	c.707_708delGT	c.(706-708)GGTfs	p.G236fs	PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	hypothetical protein LOC116224	236											0						TCAGATCCTGGTGTGTGTGTAT	0.46													-	71395788	GT	-	71395787	7	5	172	1	0	1	0	1	0	0	0	0	5419	1261	44	0	709	0	FAM122A	9	71395787	Frame_Shift_Del	DEL	GT	TCGA-CG-4442-01A-01D-1158-08	33953965	71395787	69817644	918	94030											
APBA1	320	broad.mit.edu	37	chr9	72056032	72056032	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggactgattctttaagccCttaaacatgaataaagtaca	7	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:72056032C>A	uc004ahh.2	-	11	2458	c.2182_splice	c.e11-1	p.G728_splice		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,						axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TCTTTAAGCCCTTAAACATGA	0.473													A	72056032	C	A	72056032	5	1	172	1	0	0	0	0	0	0	1	0	756	695	24	5	344	5	APBA1	9	72056032	Splice_Site	SNP	C	TCGA-CG-4442-01A-01D-1158-08	660245	72056032	69157399	919	94031											
PRUNE2	158471	broad.mit.edu	37	chr9	79318675	79318675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaagatgatctcgtatcGcttttagaagacattttctc	6	8	3	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:79318675G>A	uc010mpk.2	-	9	7978	c.7854C>T	c.(7852-7854)AGC>AGT	p.S2618S	PRUNE2_uc004akj.3_Silent_p.S71S|PRUNE2_uc010mpl.1_Silent_p.S71S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2618				S -> G (in Ref. 4; BAD93351 and 6; BAA20822).	apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						ATCTCGTATCGCTTTTAGAAG	0.483													A	79318675	G	A	79318675	2	1	172	1	0	0	0	0	0	0	0	1	12641	1078	38	1		1	PRUNE2	9	79318675	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	7262643	79318675	61894756	920	94032											
VPS13A	23230	broad.mit.edu	37	chr9	79897181	79897181	+	Frame_Shift_Del	DEL	A	A	-													aagacaaaggagatgtcattAaaaaattaggtatgtttttt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:79897181delA	uc004akr.2	+	29	3369	c.3109delA	c.(3109-3111)AAAfs	p.K1037fs	VPS13A_uc004akp.3_Frame_Shift_Del_p.K1037fs|VPS13A_uc004akq.3_Frame_Shift_Del_p.K1037fs|VPS13A_uc004aks.2_Frame_Shift_Del_p.K1037fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1037					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGATGTCATTAAAAAATTAGG	0.299													-	79897181	A	-	79897181	7	5	172	1	0	1	0	1	0	0	0	0	17186	363	13	0	3223	0	VPS13A	9	79897181	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	578506	79897181	61316250	921	94033											
GNA14	9630	broad.mit.edu	37	chr9	80046287	80046287	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactcaatgatgccggtggtGggcactcggacgcgaagcac	14	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:80046287G>T	uc004aku.2	-	4	1066	c.543C>A	c.(541-543)CCC>CCA	p.P181P		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	181	GTP (By similarity).				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			ovary(2)	2						TGCCGGTGGTGGGCACTCGGA	0.488													T	80046287	G	T	80046287	2	4	172	1	0	0	0	0	0	0	0	1	6502	1335	47	5		5	GNA14	9	80046287	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	149106	80046287	61167144	922	94034											
SLC28A3	64078	broad.mit.edu	37	chr9	86924587	86924587	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcctccatgtgttctcTgtttcttggagaatcctgct	7	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:86924587T>G	uc010mpz.2	-	3	324	c.199A>C	c.(199-201)AGA>CGA	p.R67R	SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Silent_p.R67R|SLC28A3_uc010mqb.2_5'UTR	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	67	Cytoplasmic (Potential).		R -> K.		nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						ATGTGTTCTCTGTTTCTTGGA	0.428													G	86924587	T	G	86924587	2	3	172	1	0	0	0	0	0	0	0	1	14533	1588	55	5		5	SLC28A3	9	86924587	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6878300	86924587	54288844	923	94035											
DAPK1	1612	broad.mit.edu	37	chr9	90283523	90283523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaacaggacggaaagacGgcagaagatcttgctagatc	11	10	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:90283523G>A	uc004apc.2	+	19	2073	c.1935G>A	c.(1933-1935)ACG>ACA	p.T645T	DAPK1_uc004apd.2_Silent_p.T645T|DAPK1_uc011ltg.1_Silent_p.T645T|DAPK1_uc011lth.1_Silent_p.T382T|DAPK1_uc004apf.1_Silent_p.T199T	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	645					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						ACGGAAAGACGGCAGAAGATC	0.463									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90283523	G	A	90283523	2	1	172	1	0	0	0	0	0	0	0	1	4235	1103	39	1		1	DAPK1	9	90283523	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3358936	90283523	50929908	924	94036											
CDK20	23552	broad.mit.edu	37	chr9	90589317	90589317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccttgaagacgatgccGtgggcgccctccccgatgcg	14	14	0	2	rs138136908		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:90589317G>A	uc004apr.2	-	1	351	c.45C>T	c.(43-45)CAC>CAT	p.H15H	CDK20_uc004aps.2_Silent_p.H15H|CDK20_uc004apt.2_Silent_p.H15H|CDK20_uc004apu.2_Silent_p.H15H	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	15	Protein kinase.|ATP (By similarity).				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AGACGATGCCGTGGGCGCCCT	0.682													A	90589317	G	A	90589317	2	1	172	1	0	0	0	0	0	0	0	1	3137	1136	40	1		1	CDK20	9	90589317	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	305794	90589317	50624114	925	94037											
S1PR3	1903	broad.mit.edu	37	chr9	91617003	91617003	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactccgccatgaacccggtCatctacacgctggccagcaa	8	16	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:91617003C>T	uc004aqe.2	+	2	1284	c.888C>T	c.(886-888)GTC>GTT	p.V296V		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	296	Helical; Name=7; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						TGAACCCGGTCATCTACACGC	0.637													T	91617003	C	T	91617003	2	4	172	1	0	0	0	0	0	0	0	1	13795	813	29	4		4	S1PR3	9	91617003	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1027686	91617003	49596428	926	94038											
SEMA4D	10507	broad.mit.edu	37	chr9	91994223	91994223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcctactaccttctgtcTgaacaactgacaaggtgggg	9	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:91994223T>C	uc004aqo.1	-	18	2557	c.1985A>G	c.(1984-1986)CAG>CGG	p.Q662R	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.Q660R	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	662	Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						ACCTTCTGTCTGAACAACTGA	0.577													C	91994223	T	C	91994223	3	2	172	1	0	0	0	0	1	0	0	0	14034	1580	55	3	1177	3	SEMA4D	9	91994223	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	377220	91994223	49219208	927	94039											
NOL8	55035	broad.mit.edu	37	chr9	95077286	95077286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaagccacaatctccgcagGacgaatacactgtcggcctc	10	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:95077286G>T	uc004arv.2	-	7	1958	c.1621C>A	c.(1621-1623)CCT>ACT	p.P541T	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.P473T	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	541					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						ATCTCCGCAGGACGAATACAC	0.502													T	95077286	G	T	95077286	3	4	172	1	0	0	0	0	1	0	0	0	10527	1174	41	5	1926	5	NOL8	9	95077286	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3083063	95077286	46136145	928	94040											
BICD2	23299	broad.mit.edu	37	chr9	95482718	95482718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtccagtggcagcttgGccaggccgccgtgctcaaag	14	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:95482718G>A	uc004aso.1	-	4	983	c.926C>T	c.(925-927)GCC>GTC	p.A309V	BICD2_uc004asp.1_Missense_Mutation_p.A309V	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	309					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGGCAGCTTGGCCAGGCCGCC	0.627													A	95482718	G	A	95482718	3	1	172	1	0	0	0	0	1	0	0	0	1429	1203	42	2	1667	2	BICD2	9	95482718	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	405432	95482718	45730713	929	94041											
FGD3	89846	broad.mit.edu	37	chr9	95780428	95780428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccttcaggtgcaggataTcgtcaagccaaacacagcac	9	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:95780428T>C	uc004asw.2	+	11	1914	c.1286T>C	c.(1285-1287)ATC>ACC	p.I429T	FGD3_uc004asx.2_Missense_Mutation_p.I429T|FGD3_uc004asz.2_Missense_Mutation_p.I429T|FGD3_uc004ata.2_Missense_Mutation_p.I232T|FGD3_uc011luc.1_Missense_Mutation_p.I32T	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	429	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|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						GTGCAGGATATCGTCAAGCCA	0.463													C	95780428	T	C	95780428	3	2	172	1	0	0	0	0	1	0	0	0	5834	1435	50	3	1320	3	FGD3	9	95780428	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	297710	95780428	45433003	930	94042											
ZNF367	195828	broad.mit.edu	37	chr9	99160512	99160512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccctattacagatgttacAacggattctgctggatgaat	8	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:99160512A>G	uc004awf.2	-	2	860	c.505T>C	c.(505-507)TGT>CGT	p.C169R	ZNF367_uc004awg.2_Missense_Mutation_p.C169R	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	169	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				CAGATGTTACAACGGATTCTG	0.433													G	99160512	A	G	99160512	3	3	172	1	0	0	0	0	1	0	0	0	17868	130	5	3	563	3	ZNF367	9	99160512	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3380084	99160512	42052919	931	94043											
KIAA1529	57653	broad.mit.edu	37	chr9	100077196	100077196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcctacctcatgcggcccGaagtgtacaggctgataaat	9	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:100077196G>A	uc011lut.1	+	20	2085	c.1312G>A	c.(1312-1314)GAA>AAA	p.E438K	KIAA1529_uc004axe.1_Missense_Mutation_p.E438K|KIAA1529_uc004axg.1_Missense_Mutation_p.E299K|KIAA1529_uc011lus.1_Missense_Mutation_p.E256K|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E299K|KIAA1529_uc011luv.1_Missense_Mutation_p.E296K	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CATGCGGCCCGAAGTGTACAG	0.498													A	100077196	G	A	100077196	3	1	172	1	0	0	0	0	1	0	0	0	8240	1059	37	1	1354	1	KIAA1529	9	100077196	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	916684	100077196	41136235	932	94044											
NANS	54187	broad.mit.edu	37	chr9	100840602	100840602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcatacccgctccagccTgaggacgtcaacctgcgggt	12	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:100840602T>C	uc004ayb.2	+	5	1218	c.576T>C	c.(574-576)CCT>CCC	p.P192P	NANS_uc004ayc.2_Silent_p.P192P|TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Silent_p.P40P	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	192					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CGCTCCAGCCTGAGGACGTCA	0.527													C	100840602	T	C	100840602	2	2	172	1	0	0	0	0	0	0	0	1	10155	1567	55	3		3	NANS	9	100840602	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	763406	100840602	40372829	933	94045											
COL15A1	1306	broad.mit.edu	37	chr9	101806909	101806909	+	Frame_Shift_Del	DEL	G	G	-													attcctctggaaaggctgatGgggaaaaaggtaattatgtc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:101806909delG	uc004azb.1	+	25	2840	c.2634delG	c.(2632-2634)ATGfs	p.M878fs		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	878	Nonhelical region 5 (NC5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AAAGGCTGATGGGGAAAAAGG	0.493													-	101806909	G	-	101806909	7	5	172	1	0	1	0	1	0	0	0	0	3672	1348	47	0	2732	0	COL15A1	9	101806909	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	966307	101806909	39406522	934	94046											
SLC44A1	23446	broad.mit.edu	37	chr9	108097858	108097858	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggtatgtattcttttTggatccatgcaacctggact	8	8	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:108097858T>A	uc004bcn.2	+	4	505	c.284T>A	c.(283-285)TTG>TAG	p.L95*	SLC44A1_uc010mtk.1_Nonsense_Mutation_p.L95*	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	95	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	GTATTCTTTTTGGATCCATGC	0.403													A	108097858	T	A	108097858	4	1	172	1	0	0	0	0	0	1	0	0	14635	1821	63	5	298	5	SLC44A1	9	108097858	Nonsense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6290949	108097858	33115573	935	94047											
ZNF462	58499	broad.mit.edu	37	chr9	109690181	109690181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaacggtttgctcctgCattaccaacggaggcatcca	9	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:109690181C>T	uc004bcz.2	+	3	4277	c.3988C>T	c.(3988-3990)CAT>TAT	p.H1330Y	ZNF462_uc010mto.2_Missense_Mutation_p.H1178Y|ZNF462_uc004bda.2_Missense_Mutation_p.H1178Y	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1330					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TTTGCTCCTGCATTACCAACG	0.532													T	109690181	C	T	109690181	3	4	172	1	0	0	0	0	1	0	0	0	17923	710	25	2	3994	2	ZNF462	9	109690181	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1592323	109690181	31523250	936	94048											
C9orf5	23731	broad.mit.edu	37	chr9	111853258	111853258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaaccagatctgcatgAcgacaatggcccaaactaga	9	11	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:111853258A>G	uc004bdt.3	-	5	1126	c.1094T>C	c.(1093-1095)GTC>GCC	p.V365A	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.V365A	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	365	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		GATCTGCATGACGACAATGGC	0.453													G	111853258	A	G	111853258	3	3	172	1	0	0	0	0	1	0	0	0	2486	275	10	3	1601	3	C9orf5	9	111853258	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2163077	111853258	29360173	937	94049											
EPB41L4B	54566	broad.mit.edu	37	chr9	111956600	111956600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggagacttgtgtggcgGccgttgtggtgtttgtggtt	18	6	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:111956600G>A	uc004bdz.1	-	21	2418	c.2123C>T	c.(2122-2124)GCC>GTC	p.A708V		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	708						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TTGTGTGGCGGCCGTTGTGGT	0.592													A	111956600	G	A	111956600	3	1	172	1	0	0	0	0	1	0	0	0	5156	1203	42	2	603	2	EPB41L4B	9	111956600	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	103342	111956600	29256831	938	94050											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112705214	112705214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaagcttaggaggagggCacgtgtctgaaaggactgtg	15	6	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:112705214C>T	uc004bei.2	+	7	937	c.745C>T	c.(745-747)CAC>TAC	p.H249Y	PALM2_uc004bef.2_Missense_Mutation_p.H251Y|PALM2_uc004beg.2_Missense_Mutation_p.H217Y|PALM2_uc004beh.3_Missense_Mutation_p.H249Y|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						AGGAGGAGGGCACGTGTCTGA	0.463													T	112705214	C	T	112705214	3	4	172	1	0	0	0	0	1	0	0	0	11410	710	25	2		2	PALM2-AKAP2	9	112705214	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	748614	112705214	28508217	939	94051											
SUSD1	64420	broad.mit.edu	37	chr9	114840897	114840897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacattgtagttggtaccCggacgtaggtccaagcacac	11	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:114840897C>T	uc004bfu.2	-	12	1715	c.1674G>A	c.(1672-1674)CCG>CCA	p.P558P	SUSD1_uc010mui.2_Silent_p.P558P|SUSD1_uc010muj.2_Silent_p.P558P	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	558	Extracellular (Potential).					integral to membrane	calcium ion binding				0						AGTTGGTACCCGGACGTAGGT	0.493													T	114840897	C	T	114840897	2	4	172	1	0	0	0	0	0	0	0	1	15404	639	23	1		1	SUSD1	9	114840897	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2135683	114840897	26372534	940	94052											
KIAA1958	158405	broad.mit.edu	37	chr9	115337189	115337189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccccctctgtgatcTccagaccaattgtccagaag	7	15	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:115337189T>C	uc004bgf.1	+	2	1004	c.829T>C	c.(829-831)TCC>CCC	p.S277P	KIAA1958_uc011lwx.1_Missense_Mutation_p.S277P	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	277										skin(1)	1						CTCTGTGATCTCCAGACCAAT	0.537													C	115337189	T	C	115337189	3	2	172	1	0	0	0	0	1	0	0	0	8264	1551	54	3	831	3	KIAA1958	9	115337189	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	496292	115337189	25876242	941	94053											
C9orf80	58493	broad.mit.edu	37	chr9	115456516	115456516	+	Splice_Site	DEL	A	A	-													tatttttgttttgaaaacctAaaaaaaagaggggaatagga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348													-	115456516	A	-	115456516	8	5	172	1	0	1	0	1	0	0	1	0	2498	377	13	0		0	C9orf80	9	115456516	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	119327	115456516	25756915	942	94054											
PRPF4	9128	broad.mit.edu	37	chr9	116053805	116053805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacagccaagatctggacGcacccaggctggtccccgct	10	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:116053805G>A	uc004bgx.2	+	14	1484	c.1434G>A	c.(1432-1434)ACG>ACA	p.T478T	PRPF4_uc004bgy.2_Silent_p.T477T	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	478	WD 6.					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						AGATCTGGACGCACCCAGGCT	0.512													A	116053805	G	A	116053805	2	1	172	1	0	0	0	0	0	0	0	1	12570	1074	38	1		1	PRPF4	9	116053805	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	597289	116053805	25159626	943	94055											
HDHD3	81932	broad.mit.edu	37	chr9	116136584	116136584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcggagcctgagcagCgtgtccttcacatcccacgt	14	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:116136584C>T	uc004bhi.1	-	2	835	c.51G>A	c.(49-51)ACG>ACA	p.T17T	HDHD3_uc004bhj.2_Silent_p.T17T|HDHD3_uc004bhk.2_Silent_p.T17T	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	17							phosphoglycolate phosphatase activity|protein binding				0						GCCTGAGCAGCGTGTCCTTCA	0.662													T	116136584	C	T	116136584	2	4	172	1	0	0	0	0	0	0	0	1	7024	755	27	1		1	HDHD3	9	116136584	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	82779	116136584	25076847	944	94056											
ZNF618	114991	broad.mit.edu	37	chr9	116812206	116812206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaggcaaaaatgaagtgtAcgattacctgcaggagcccc	11	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:116812206A>G	uc004bid.2	+	15	2723	c.2624A>G	c.(2623-2625)TAC>TGC	p.Y875C	ZNF618_uc004bic.2_Missense_Mutation_p.Y782C|ZNF618_uc011lxi.1_Missense_Mutation_p.Y842C|ZNF618_uc011lxj.1_Missense_Mutation_p.Y843C|ZNF618_uc010mvb.2_Missense_Mutation_p.Y465C	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATGAAGTGTACGATTACCTG	0.582													G	116812206	A	G	116812206	3	3	172	1	0	0	0	0	1	0	0	0	18039	391	14	3	2399	3	ZNF618	9	116812206	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	675622	116812206	24401225	945	94057											
C5	727	broad.mit.edu	37	chr9	123737105	123737105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcattttataattatgTaaggcacctttatgcttgta	6	6	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:123737105T>C	uc004bkv.2	-	30	3999	c.3969A>G	c.(3967-3969)TTA>TTG	p.L1323L		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1323					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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TATAATTATGTAAGGCACCTT	0.388													C	123737105	T	C	123737105	2	2	172	1	0	0	0	0	0	0	0	1	2280	1635	57	3		3	C5	9	123737105	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6924899	123737105	17476326	946	94058											
C5	727	broad.mit.edu	37	chr9	123776151	123776151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaaaatgtcatacttacGtagccttcccaattgcatgt	6	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:123776151G>A	uc004bkv.2	-	17	2287	c.2257C>T	c.(2257-2259)CAC>TAC	p.H753Y	C5_uc010mvm.1_Missense_Mutation_p.H753Y	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	753					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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCATACTTACGTAGCCTTCCC	0.383													A	123776151	G	A	123776151	3	1	172	1	0	0	0	0	1	0	0	0	2280	1159	40	1	2873	1	C5	9	123776151	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	39046	123776151	17437280	947	94059											
DAB2IP	153090	broad.mit.edu	37	chr9	124535261	124535261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccgagggcgcgccaggCcggccccagctgttggcacc	14	18	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:124535261C>T	uc004bln.2	+	12	2439	c.2370C>T	c.(2368-2370)GGC>GGT	p.G790G	DAB2IP_uc004blo.2_Silent_p.G694G|DAB2IP_uc004blp.2_Silent_p.G223G	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	818					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			ovary(1)|central_nervous_system(1)	2						GCGCGCCAGGCCGGCCCCAGC	0.721													T	124535261	C	T	124535261	2	4	172	1	0	0	0	0	0	0	0	1	4219	726	26	2		2	DAB2IP	9	124535261	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	759110	124535261	16678170	948	94060											
LHX6	26468	broad.mit.edu	37	chr9	124979348	124979348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggagcaggttgggtaccGttctcggcggccctcttgag	17	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:124979348G>A	uc010mvw.2	-	4	703	c.594C>T	c.(592-594)AAC>AAT	p.N198N	LHX6_uc004blx.3_Silent_p.N227N|LHX6_uc004bly.3_Silent_p.N227N	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	LIM homeobox protein 6 isoform 1	198					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				0						GTTGGGTACCGTTCTCGGCGG	0.637													A	124979348	G	A	124979348	2	1	172	1	0	0	0	0	0	0	0	1	8775	1159	40	1		1	LHX6	9	124979348	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	444087	124979348	16234083	949	94061											
ZBTB26	57684	broad.mit.edu	37	chr9	125681320	125681320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgcagagtagacacatAaagagtttgtgcatttttaa	9	6	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:125681320A>G	uc004bnj.2	-	2	1106	c.894T>C	c.(892-894)TTT>TTC	p.F298F	ZBTB26_uc004bnk.2_Silent_p.F298F	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	298	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTAGACACATAAAGAGTTTGT	0.463													G	125681320	A	G	125681320	2	3	172	1	0	0	0	0	0	0	0	1	17530	359	13	3		3	ZBTB26	9	125681320	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	701972	125681320	15532111	950	94062											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861043	+	Frame_Shift_Ins	INS	-	-	A													caaggcagaatctgagattaINSaaaaaaacagttctatcatt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:125861041_125861042T>TA	uc011lzh.2	+	22	2915_2916	c.2781_2782T>TA	c.(2779-2784)attaaafs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Ins_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					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						AATCTGAGATTAAAAAAAACAG	0.396													A	125861043	-	A	125861042	7	5	172	1	0	1	1	0	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	179722	125861042	15352389	951	94063											
LHX2	9355	broad.mit.edu	37	chr9	126794732	126794732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcccgagccaagttcaggCgcaacctcttacggcaggaa	11	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:126794732C>T	uc004boe.1	+	5	1706	c.967C>T	c.(967-969)CGC>TGC	p.R323C	LHX2_uc010mwi.1_Missense_Mutation_p.R331C	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	323	Homeobox.|Nuclear localization signal (Potential).					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGTTCAGGCGCAACCTCTT	0.667													T	126794732	C	T	126794732	3	4	172	1	0	0	0	0	1	0	0	0	8771	768	27	1	985	1	LHX2	9	126794732	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	933690	126794732	14418699	952	94064											
NAIF1	203245	broad.mit.edu	37	chr9	130825856	130825856	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacgctcagggcagcctGtgtgccctccatggcctggg	16	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:130825856G>A	uc004bta.2	-	2	1054	c.835C>T	c.(835-837)CAG>TAG	p.Q279*	NAIF1_uc004bsz.2_RNA	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	279					apoptosis|induction of apoptosis	nucleus					0						AGGGCAGCCTGTGTGCCCTCC	0.642													A	130825856	G	A	130825856	4	1	172	1	0	0	0	0	0	1	0	0	10146	1386	48	4	152	4	NAIF1	9	130825856	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4031124	130825856	10387575	953	94065											
PTGES2	80142	broad.mit.edu	37	chr9	130884681	130884681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggccccccatgaagggcCggtccttgcccacagcagcc	11	18	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:130884681C>T	uc004bti.2	-	6	1443	c.965G>A	c.(964-966)CGG>CAG	p.R322Q	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.R131Q|PTGES2_uc004btl.2_Missense_Mutation_p.R131Q|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	322	GST C-terminal.|Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						CATGAAGGGCCGGTCCTTGCC	0.647													T	130884681	C	T	130884681	3	4	172	1	0	0	0	0	1	0	0	0	12747	652	23	1	176	1	PTGES2	9	130884681	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	58825	130884681	10328750	954	94066											
GOLGA2	2801	broad.mit.edu	37	chr9	131020067	131020067	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccctggcctcccactcAccaatggtgtctgtctctcc	8	18	3	0	rs112572208		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:131020067A>G	uc011maw.1	-	23	2543	c.2530_splice	c.e23+1	p.G844_splice	GOLGA2_uc010mxw.2_Splice_Site_p.G167_splice|GOLGA2_uc004buh.2_Intron	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2							Golgi cisterna membrane	protein binding			ovary(1)	1						CCTCCCACTCACCAATGGTGT	0.587													G	131020067	A	G	131020067	5	3	172	1	0	0	0	0	0	0	1	0	6552	173	6	3	492	3	GOLGA2	9	131020067	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	135386	131020067	10193364	955	94067											
TOR1A	1861	broad.mit.edu	37	chr9	132580879	132580879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctctgctttccactcCtccagaaatccaaagccaca	3	18	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:132580879C>A	uc004byl.2	-	4	745	c.668G>T	c.(667-669)AGG>ATG	p.R223M	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	223					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				CTTTCCACTCCTCCAGAAATC	0.493													A	132580879	C	A	132580879	3	1	172	1	0	0	0	0	1	0	0	0	16368	681	24	5	338	5	TOR1A	9	132580879	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1560812	132580879	8632552	956	94068											
LAMC3	10319	broad.mit.edu	37	chr9	133911697	133911697	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgggcccggggcaccgcCgaggctgcccacgagtgtct	16	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:133911697C>A	uc004caa.1	+	4	1052	c.954C>A	c.(952-954)GCC>GCA	p.A318A		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	318	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGGGCACCGCCGAGGCTGCCC	0.672													A	133911697	C	A	133911697	2	1	172	1	0	0	0	0	0	0	0	1	8616	639	23	5		5	LAMC3	9	133911697	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1330818	133911697	7301734	957	94069											
NUP214	8021	broad.mit.edu	37	chr9	134007993	134007994	+	Frame_Shift_Ins	INS	-	-	A													ctctttcagactttgcaggaINSaaaaaaagtcattccttgtc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:134007992_134007993G>GA	uc004cag.3	+	5	784_785	c.673_674G>GA	c.(673-675)gaafs	p.E225fs	NUP214_uc004cah.3_Frame_Shift_Ins_p.E225fs|NUP214_uc004caf.1_Frame_Shift_Ins_p.E225fs	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	225					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)		GACTTTGCAGGAAAAAAAAGTC	0.361			T	"DEK, SET, ABL1"	"AML, T-ALL"								A	134007994	-	A	134007993	7	5	172	1	0	1	1	0	0	0	0	0	10762	246	9	0	696	0	NUP214	9	134007993	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	96296	134007993	7205438	958	94070											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165682	134165682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcggctgggggtgtgcGctggccgggcggcgtcctgg	21	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:134165682G>A	uc004cal.2	+	1	602	c.298G>A	c.(298-300)GCT>ACT	p.A100T		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	100	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GGGGGTGTGCGCTGGCCGGGC	0.647													A	134165682	G	A	134165682	3	1	172	1	0	0	0	0	1	0	0	0	12296	1087	38	1	300	1	PPAPDC3	9	134165682	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	157689	134165682	7047749	959	94071											
RAPGEF1	2889	broad.mit.edu	37	chr9	134471743	134471743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagatcctccgcggacGtccggcccgtcatcaccctg	9	20	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:134471743G>A	uc004cbc.2	-	14	2203	c.2073C>T	c.(2071-2073)GAC>GAT	p.D691D	RAPGEF1_uc004cbb.2_Silent_p.D709D|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.D866D|RAPGEF1_uc004cbd.2_Silent_p.D696D	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	691	N-terminal Ras-GEF.				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			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTCCGCGGACGTCCGGCCCGT	0.537													A	134471743	G	A	134471743	2	1	172	1	0	0	0	0	0	0	0	1	13043	1136	40	1		1	RAPGEF1	9	134471743	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	306061	134471743	6741688	960	94072											
SETX	23064	broad.mit.edu	37	chr9	135202213	135202213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttagtggtaggtctcaaaGgtttagatgcaggaggaggc	15	5	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:135202213G>T	uc004cbk.2	-	10	4955	c.4772C>A	c.(4771-4773)CCT>CAT	p.P1591H	SETX_uc004cbj.2_Missense_Mutation_p.P1210H|SETX_uc010mzt.2_Missense_Mutation_p.P1210H	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1591					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGGTCTCAAAGGTTTAGATGC	0.413													T	135202213	G	T	135202213	3	4	172	1	0	0	0	0	1	0	0	0	14141	1000	35	5	3329	5	SETX	9	135202213	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	730470	135202213	6011218	961	94073											
SETX	23064	broad.mit.edu	37	chr9	135203957	135203957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataataataacctgtccacGggaggtatctccaacattat	6	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:135203957G>A	uc004cbk.2	-	10	3211	c.3028C>T	c.(3028-3030)CGT>TGT	p.R1010C	SETX_uc004cbj.2_Missense_Mutation_p.R629C|SETX_uc010mzt.2_Missense_Mutation_p.R629C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1010					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCTGTCCACGGGAGGTATCT	0.388													A	135203957	G	A	135203957	3	1	172	1	0	0	0	0	1	0	0	0	14141	1116	39	1	5073	1	SETX	9	135203957	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1744	135203957	6009474	962	94074											
BARHL1	56751	broad.mit.edu	37	chr9	135462862	135462862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcagaagtacctgagcGtgcaggaccgcatggagctc	15	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:135462862G>A	uc004cbp.1	+	2	805	c.613G>A	c.(613-615)GTG>ATG	p.V205M		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	205	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GTACCTGAGCGTGCAGGACCG	0.667													A	135462862	G	A	135462862	3	1	172	1	0	0	0	0	1	0	0	0	1313	1145	40	1	619	1	BARHL1	9	135462862	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	258905	135462862	5750569	963	94075											
SARDH	1757	broad.mit.edu	37	chr9	136596526	136596526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagggtcccgtagaggtcGtccacattcatcagcgggta	12	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:136596526G>A	uc004cep.3	-	4	725	c.591C>T	c.(589-591)GAC>GAT	p.D197D	SARDH_uc004ceo.2_Silent_p.D197D|SARDH_uc011mdn.1_Silent_p.D197D|SARDH_uc011mdo.1_Silent_p.D29D	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	197					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGTAGAGGTCGTCCACATTCA	0.642													A	136596526	G	A	136596526	2	1	172	1	0	0	0	0	0	0	0	1	13841	1136	40	1		1	SARDH	9	136596526	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1133664	136596526	4616905	964	94076											
BRD3	8019	broad.mit.edu	37	chr9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G													gctggggttggagacctccgINSgggggggtgggttcacaggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	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)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people								G	136918530	-	G	136918529	7	5	172	1	0	1	1	0	0	0	0	0	1503	1116	39	0	2153	0	BRD3	9	136918529	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	322003	136918529	4294902	965	94077											
COL5A1	1289	broad.mit.edu	37	chr9	137693829	137693830	+	Frame_Shift_Ins	INS	-	-	C													gcaagaccggccctccaggcINSccccccggcgtggtcggccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:137693828_137693829G>GC	uc004cfe.3	+	37	3363_3364	c.2981_2982G>GC	c.(2980-2982)ggcfs	p.G994fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	994	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G997fs*17(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)		GGCCCTCCAGGCCCCCCCGGCG	0.658													C	137693830	-	C	137693829	7	5	172	1	0	1	1	0	0	0	0	0	3696	726	26	0	3132	0	COL5A1	9	137693829	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	775300	137693829	3519602	966	94078											
COL5A1	1289	broad.mit.edu	37	chr9	137717721	137717721	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccggggggtcgacaTgcgtcttccctgacaagaag	13	12	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:137717721T>A	uc004cfe.2	+	63	5420	c.5038T>A	c.(5038-5040)TGC>AGC	p.C1680S	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1680	Fibrillar collagen NC1.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GGGGTCGACATGCGTCTTCCC	0.582													A	137717721	T	A	137717721	3	1	172	1	0	0	0	0	1	0	0	0	3696	1464	51	5	5288	5	COL5A1	9	137717721	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	23892	137717721	3495710	967	94079											
KIAA0649	9858	broad.mit.edu	37	chr9	138378961	138378961	+	Frame_Shift_Del	DEL	G	G	-													gccccaccgctcttgggacaGggggcccagccaggccagag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:138378961delG	uc004cfr.1	+	4	3154	c.2605delG	c.(2605-2607)GGGfs	p.G869fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	869						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TCTTGGGACAGGGGGCCCAGC	0.637													-	138378961	G	-	138378961	7	5	172	1	0	1	0	1	0	0	0	0	8187	1000	35	0	2607	0	KIAA0649	9	138378961	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	661240	138378961	2834470	968	94080											
C9orf116	138162	broad.mit.edu	37	chr9	138387441	138387441	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttgttgggaaaatttattCgaatttggataaaatacttt	8	2	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:138387441C>T	uc004cft.1	-	3	307	c.243G>A	c.(241-243)TCG>TCA	p.S81S	C9orf116_uc004cfs.1_Intron|C9orf116_uc004cfu.1_Intron	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	81											0				OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		AAAATTTATTCGAATTTGGAT	0.363													T	138387441	C	T	138387441	2	4	172	1	0	0	0	0	0	0	0	1	2450	871	31	1		1	C9orf116	9	138387441	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	8480	138387441	2825990	969	94081											
OBP2A	29991	broad.mit.edu	37	chr9	138440623	138440623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcagcacaagggactctCggaggaggacattttcatgc	14	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:138440623C>T	uc004cgb.2	+	5	500	c.458C>T	c.(457-459)TCG>TTG	p.S153L	OBP2A_uc004cgc.2_Missense_Mutation_p.R175W|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.S130L	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	153					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AAGGGACTCTCGGAGGAGGAC	0.562													T	138440623	C	T	138440623	3	4	172	1	0	0	0	0	1	0	0	0	10810	893	31	1	476	1	OBP2A	9	138440623	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	53182	138440623	2772808	970	94082											
SNAPC4	6621	broad.mit.edu	37	chr9	139288730	139288730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggctgaagcaatcgctgCaggcggtcactcaccactga	12	12	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139288730C>T	uc004chh.2	-	6	612	c.603G>A	c.(601-603)CTG>CTA	p.L201L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	201					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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCAATCGCTGCAGGCGGTCAC	0.413													T	139288730	C	T	139288730	2	4	172	1	0	0	0	0	0	0	0	1	14837	697	25	2		2	SNAPC4	9	139288730	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	848107	139288730	1924701	971	94083											
NOTCH1	4851	broad.mit.edu	37	chr9	139395128	139395128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatcagagcgtgagtagCgggcggccaggtgcaaggcg	19	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139395128C>T	uc004chz.2	-	31	5810	c.5810G>A	c.(5809-5811)CGC>CAC	p.R1937H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1937	Cytoplasmic (Potential).|ANK 1.				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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGAGTAGCGGGCGGCCAG	0.677			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139395128	C	T	139395128	3	4	172	1	0	0	0	0	1	0	0	0	10547	768	27	1	1873	1	NOTCH1	9	139395128	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	106398	139395128	1818303	972	94084											
NOTCH1	4851	broad.mit.edu	37	chr9	139412608	139412608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgagcactcatccacGtcctggctgcaggccgggcc	12	18	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139412608G>A	uc004chz.2	-	7	1236	c.1236C>T	c.(1234-1236)GAC>GAT	p.D412D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	412	Extracellular (Potential).|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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTCATCCACGTCCTGGCTGC	0.657			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139412608	G	A	139412608	2	1	172	1	0	0	0	0	0	0	0	1	10547	1136	40	1		1	NOTCH1	9	139412608	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	17480	139412608	1800823	973	94085											
MAMDC4	158056	broad.mit.edu	37	chr9	139749902	139749902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgtccaccctgcagccGctgcctcctgggccccgggc	14	18	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:139749902G>A	uc004cjs.2	+	12	1352	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	434	Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		CCCTGCAGCCGCTGCCTCCTG	0.706													A	139749902	G	A	139749902	2	1	172	1	0	0	0	0	0	0	0	1	9204	1074	38	1		1	MAMDC4	9	139749902	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	337294	139749902	1463529	974	94086											
GRIN1	2902	broad.mit.edu	37	chr9	140036496	140036496	+	Frame_Shift_Del	DEL	C	C	-													cctagttagccatccacctaCccccaacgaccacttcactc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140036496delC	uc004clk.2	+	2	620	c.290delC	c.(289-291)ACCfs	p.T97fs	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Frame_Shift_Del_p.T94fs|GRIN1_uc004cll.2_Frame_Shift_Del_p.T97fs|GRIN1_uc004clm.2_Frame_Shift_Del_p.T97fs|GRIN1_uc004cln.2_Frame_Shift_Del_p.T94fs|GRIN1_uc004clo.2_Frame_Shift_Del_p.T94fs	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	97	Extracellular (Potential).				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			skin(1)	1	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)	CATCCACCTACCCCCAACGAC	0.592													-	140036496	C	-	140036496	7	5	172	1	0	1	0	1	0	0	0	0	6778	507	18	0	296	0	GRIN1	9	140036496	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	286594	140036496	1176935	975	94087											
RNF208	727800	broad.mit.edu	37	chr9	140115502	140115502	+	Frame_Shift_Del	DEL	G	G	-													tgccagagttggggtgggccGgggagcaggcgggaagcagg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140115502delG	uc004clz.1	-	1	274	c.163delC	c.(163-165)CGGfs	p.R55fs		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	55							zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGGGTGGGCCGGGGAGCAGGC	0.627													-	140115502	G	-	140115502	7	5	172	1	0	1	0	1	0	0	0	0	13475	1115	39	0	626	0	RNF208	9	140115502	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	79006	140115502	1097929	976	94088											
NOXA1	10811	broad.mit.edu	37	chr9	140327669	140327670	+	Frame_Shift_Ins	INS	-	-	G													cctacagggctgccggcaatINSgggggggcctggccccggcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140327669_140327670insG	uc004cmv.2	+	10	998_999	c.863_864insG	c.(862-864)ATGfs	p.M288fs	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Frame_Shift_Ins_p.M288fs|NOXA1_uc010nch.2_Frame_Shift_Ins_p.M232fs	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	288			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTGCCGGCAATGGGGGGGCCTG	0.668													G	140327670	-	G	140327669	7	5	172	1	0	1	1	0	0	0	0	0	10560	1464	51	0	901	0	NOXA1	9	140327669	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	212167	140327669	885762	977	94089											
ENTPD8	377841	broad.mit.edu	37	chr9	140331377	140331377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccaaaggcaccttcggCctgcccggccaggagctcgg	12	17	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140331377C>T	uc004cmw.2	-	5	683	c.499G>A	c.(499-501)GCC>ACC	p.A167T	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.A167T|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	167	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCACCTTCGGCCTGCCCGGCC	0.652													T	140331377	C	T	140331377	3	4	172	1	0	0	0	0	1	0	0	0	5145	739	26	2	1012	2	ENTPD8	9	140331377	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3708	140331377	882054	978	94090											
ENTPD8	377841	broad.mit.edu	37	chr9	140331675	140331675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccgatgctgggcctctgGgatcagcaccagcgcctcct	11	15	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140331675G>T	uc004cmw.2	-	4	515	c.331C>A	c.(331-333)CCA>ACA	p.P111T	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.P111T|ENTPD8_uc004cmy.2_Missense_Mutation_p.P111T	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	111	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGGCCTCTGGGATCAGCACC	0.637													T	140331675	G	T	140331675	3	4	172	1	0	0	0	0	1	0	0	0	5145	1232	43	5	1184	5	ENTPD8	9	140331675	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	298	140331675	881756	979	94091											
ZMYND19	116225	broad.mit.edu	37	chr9	140481464	140481464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggccgccagccccacGgcaccagttgcaggttgtcc	12	17	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr9:140481464G>A	uc004cno.1	-	4	536	c.314C>T	c.(313-315)CCG>CTG	p.P105L		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	105						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCAGCCCCACGGCACCAGTTG	0.672													A	140481464	G	A	140481464	3	1	172	1	0	0	0	0	1	0	0	0	17707	1116	39	1	381	1	ZMYND19	9	140481464	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	149789	140481464	731967	980	94092											
ZMYND11	10771	broad.mit.edu	37	chr10	293373	293373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaagagcaaagaaaggAcgacgtaatcaaagtgtgga	12	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:293373A>G	uc010pzt.1	+	12	1622	c.1194A>G	c.(1192-1194)GGA>GGG	p.G398G	ZMYND11_uc001ifk.2_Silent_p.G397G|ZMYND11_uc010pzu.1_Silent_p.G398G|ZMYND11_uc010pzv.1_Silent_p.G343G|ZMYND11_uc010pzw.1_Silent_p.G313G|ZMYND11_uc001ifm.2_Silent_p.G344G|ZMYND11_uc010pzx.1_Silent_p.G398G|ZMYND11_uc001ifn.2_Silent_p.G344G|ZMYND11_uc009xhg.2_Silent_p.G381G|ZMYND11_uc009xhh.2_Silent_p.G272G|ZMYND11_uc010pzy.1_Silent_p.G250G	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	358	Nuclear localization signal (Potential).				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAAAGAAAGGACGACGTAATC	0.383													G	293373	A	G	293373	2	3	172	1	0	0	0	0	0	0	0	1	17703	262	10	3		3	ZMYND11	10	293373	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08		293373	135241374	981	94093											
GDI2	2665	broad.mit.edu	37	chr10	5808594	5808594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaggagatcatgcagacGtagatatctagaaacaaatg	10	6	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:5808594G>A	uc001iil.3	-	9	1290	c.999C>T	c.(997-999)TAC>TAT	p.Y333Y	GDI2_uc001iim.3_Silent_p.Y288Y|GDI2_uc009xid.2_Silent_p.Y337Y	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	333					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						TCATGCAGACGTAGATATCTA	0.448													A	5808594	G	A	5808594	2	1	172	1	0	0	0	0	0	0	0	1	6321	1140	40	1		1	GDI2	10	5808594	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5515221	5808594	129726153	982	94094											
SFMBT2	57713	broad.mit.edu	37	chr10	7239569	7239569	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtagctctgcaatccTtcctttgttcaggtaagggc	11	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:7239569T>G	uc009xio.1	-	15	1730	c.1639A>C	c.(1639-1641)AGG>CGG	p.R547R	SFMBT2_uc001ijn.1_Silent_p.R547R|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	547					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TCTGCAATCCTTCCTTTGTTC	0.507													G	7239569	T	G	7239569	2	3	172	1	0	0	0	0	0	0	0	1	14158	1608	56	5		5	SFMBT2	10	7239569	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1430975	7239569	128295178	983	94095											
ITIH2	3698	broad.mit.edu	37	chr10	7773852	7773852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacatcagtcacggacgtcActcaaaacaatttccataac	4	12	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:7773852A>G	uc001ijs.2	+	13	1702	c.1540A>G	c.(1540-1542)ACT>GCT	p.T514A		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	514					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						CACGGACGTCACTCAAAACAA	0.438													G	7773852	A	G	7773852	3	3	172	1	0	0	0	0	1	0	0	0	7904	159	6	3	1590	3	ITIH2	10	7773852	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	534283	7773852	127760895	984	94096											
TAF3	83860	broad.mit.edu	37	chr10	8007477	8007477	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcccttgttcagcccTgccacagcctccagggtccc	9	20	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:8007477T>C	uc010qbd.1	+	3	2004	c.2004T>C	c.(2002-2004)CCT>CCC	p.P668P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	668	Lys-rich.				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			ovary(1)	1						TGTTCAGCCCTGCCACAGCCT	0.423													C	8007477	T	C	8007477	2	2	172	1	0	0	0	0	0	0	0	1	15522	1567	55	3		3	TAF3	10	8007477	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	233625	8007477	127527270	985	94097											
UPF2	26019	broad.mit.edu	37	chr10	12009391	12009391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttaaacttagttagTtctcctataaaacgaacagt	4	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:12009391T>C	uc001ila.2	-	9	2490	c.2016A>G	c.(2014-2016)GAA>GAG	p.E672E	UPF2_uc001ilb.2_Silent_p.E672E|UPF2_uc001ilc.2_Silent_p.E672E|UPF2_uc009xiz.1_Silent_p.E672E	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	672	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			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				ACTTAGTTAGTTCTCCTATAA	0.279													C	12009391	T	C	12009391	2	2	172	1	0	0	0	0	0	0	0	1	17001	1722	60	3		3	UPF2	10	12009391	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4001914	12009391	123525356	986	94098											
OPTN	10133	broad.mit.edu	37	chr10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-													gtgaaagcacaggaaatggaCccccccacctggcccaccca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|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						CAGGAAATGGACCCCCCCACC	0.562													-	13151192	C	-	13151192	7	5	172	1	0	1	0	1	0	0	0	0	10889	507	18	0	72	0	OPTN	10	13151192	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	1141801	13151192	122383555	987	94099											
DCLRE1C	64421	broad.mit.edu	37	chr10	14950433	14950433	+	Frame_Shift_Del	DEL	T	T	-													atctaagagtgagcattttcTttttttgactgctatactct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:14950433delT	uc001inn.2	-	14	2138	c.2053delA	c.(2053-2055)AGAfs	p.R685fs	DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Frame_Shift_Del_p.R338fs|DCLRE1C_uc001inl.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc009xji.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc001inm.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001ino.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inq.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inr.2_Frame_Shift_Del_p.R570fs	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	685					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GAGCATTTTCTTTTTTTGACT	0.269								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					-	14950433	T	-	14950433	7	5	172	1	0	1	0	1	0	0	0	0	4296	1617	56	0	29	0	DCLRE1C	10	14950433	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1799241	14950433	120584314	988	94100											
FAM171A1	221061	broad.mit.edu	37	chr10	15256119	15256119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtgagagcacggtgtTgtaactacccctgtagtcat	12	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:15256119T>C	uc001iob.2	-	8	1475	c.1468A>G	c.(1468-1470)AAC>GAC	p.N490D		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	490	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AGCACGGTGTTGTAACTACCC	0.493													C	15256119	T	C	15256119	3	2	172	1	0	0	0	0	1	0	0	0	5490	1812	63	3	1208	3	FAM171A1	10	15256119	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	305686	15256119	120278628	989	94101											
CUBN	8029	broad.mit.edu	37	chr10	17113596	17113596	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttctccagttaattcatcCccgcaagctgtaagcataaa	5	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:17113596C>A	uc001ioo.2	-	19	2506	c.2454G>T	c.(2452-2454)GGG>GGT	p.G818G		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	818	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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAATTCATCCCCGCAAGCTG	0.408													A	17113596	C	A	17113596	2	1	172	1	0	0	0	0	0	0	0	1	4051	610	22	5		5	CUBN	10	17113596	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1857477	17113596	118421151	990	94102											
GPR158	57512	broad.mit.edu	37	chr10	25887406	25887406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactcaaattctgataacAcagagactaaagatcctgcc	5	11	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:25887406A>G	uc001isj.2	+	11	2911	c.2851A>G	c.(2851-2853)ACA>GCA	p.T951A	GPR158_uc001isk.2_Missense_Mutation_p.T326A	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	951	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTCTGATAACACAGAGACTAA	0.443													G	25887406	A	G	25887406	3	3	172	1	0	0	0	0	1	0	0	0	6663	159	6	3	2893	3	GPR158	10	25887406	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	8773810	25887406	109647341	991	94103											
MYO3A	53904	broad.mit.edu	37	chr10	26457756	26457756	+	Frame_Shift_Del	DEL	A	A	-													cttgtgttcaagaagataccAaaaaatacaggagaaaagga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:26457756delA	uc001isn.2	+	28	3587	c.3227delA	c.(3226-3228)CAAfs	p.Q1076fs	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1076	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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGAAGATACCAAAAAATACAG	0.323													-	26457756	A	-	26457756	7	5	172	1	0	1	0	1	0	0	0	0	10076	130	5	0	3329	0	MYO3A	10	26457756	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	570350	26457756	109076991	992	94104											
APBB1IP	54518	broad.mit.edu	37	chr10	26789948	26789948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgttgctgccactggtAtcagccaatatgaggatgac	10	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:26789948A>G	uc001iss.2	+	5	682	c.361A>G	c.(361-363)ATC>GTC	p.I121V	APBB1IP_uc001isr.2_Missense_Mutation_p.I121V|APBB1IP_uc009xks.1_Missense_Mutation_p.I121V	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	121					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						TGCCACTGGTATCAGCCAATA	0.478													G	26789948	A	G	26789948	3	3	172	1	0	0	0	0	1	0	0	0	760	449	16	3	371	3	APBB1IP	10	26789948	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	332192	26789948	108744799	993	94105											
KIF5B	3799	broad.mit.edu	37	chr10	32306209	32306209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgattccaaagcttTcactctctcagctgtagctc	7	13	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:32306209T>C	uc001iwe.3	-	24	3093	c.2623A>G	c.(2623-2625)AAA>GAA	p.K875E		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	875					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TCCAAAGCTTTCACTCTCTCA	0.433													C	32306209	T	C	32306209	3	2	172	1	0	0	0	0	1	0	0	0	8306	1792	62	3	276	3	KIF5B	10	32306209	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5516261	32306209	103228538	994	94106											
NRP1	8829	broad.mit.edu	37	chr10	33552726	33552726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataagtgcattcaaggctgTtgggatatttttcagggaat	11	4	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:33552726T>C	uc001iwx.3	-	4	1029	c.506A>G	c.(505-507)AAC>AGC	p.N169S	NRP1_uc001iwv.3_Missense_Mutation_p.N169S|NRP1_uc009xlz.2_Missense_Mutation_p.N169S|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.N169S|NRP1_uc001iwz.2_Missense_Mutation_p.N169S|NRP1_uc001ixa.2_Missense_Mutation_p.N169S|NRP1_uc001ixb.1_Missense_Mutation_p.N169S|NRP1_uc001ixc.1_Missense_Mutation_p.N169S	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	169	Extracellular (Potential).|CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCAAGGCTGTTGGGATATTT	0.438													C	33552726	T	C	33552726	3	2	172	1	0	0	0	0	1	0	0	0	10660	1725	60	3	2332	3	NRP1	10	33552726	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1246517	33552726	101982021	995	94107											
GJD4	219770	broad.mit.edu	37	chr10	35896701	35896701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgtgtgcgtcctccTcccctccgccgtcttcagcg	11	19	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:35896701T>C	uc001iyy.1	+	2	418	c.260T>C	c.(259-261)CTC>CCC	p.L87P		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	87	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGCGTCCTCCTCCCCTCCGCC	0.706													C	35896701	T	C	35896701	3	2	172	1	0	0	0	0	1	0	0	0	6419	1551	54	3	266	3	GJD4	10	35896701	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2343975	35896701	99638046	996	94108											
C10orf25	220979	broad.mit.edu	37	chr10	45496198	45496198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaccacacacaggggcggTtacagctcttgaggtcccgg	13	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:45496198T>C	uc001jbv.1	-	1	139	c.110A>G	c.(109-111)AAC>AGC	p.N37S	C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	hypothetical protein LOC220979 precursor	37						extracellular region					0						ACAGGGGCGGTTACAGCTCTT	0.517													C	45496198	T	C	45496198	3	2	172	1	0	0	0	0	1	0	0	0	1598	1725	60	3	266	3	C10orf25	10	45496198	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	9599497	45496198	90038549	997	94109											
ALOX5	240	broad.mit.edu	37	chr10	45938585	45938585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccgaggccatcaaggccCggggcatggagagcaaagaa	14	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:45938585C>T	uc001jce.2	+	10	1471	c.1372C>T	c.(1372-1374)CGG>TGG	p.R458W	ALOX5_uc009xmt.2_Missense_Mutation_p.R426W|ALOX5_uc010qfg.1_Missense_Mutation_p.R458W	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	458	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			ovary(1)|pancreas(1)	2		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)	CATCAAGGCCCGGGGCATGGA	0.657													T	45938585	C	T	45938585	3	4	172	1	0	0	0	0	1	0	0	0	540	643	23	1	1410	1	ALOX5	10	45938585	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	442387	45938585	89596162	998	94110											
SYT15	83849	broad.mit.edu	37	chr10	46969273	46969273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttgggtcctagcatgcGgctggcagggcctgtcccgc	15	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:46969273G>A	uc001jea.2	-	2	341	c.188C>T	c.(187-189)CCG>CTG	p.P63L	SYT15_uc001jdz.2_Missense_Mutation_p.P63L|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						CCTAGCATGCGGCTGGCAGGG	0.612													A	46969273	G	A	46969273	3	1	172	1	0	0	0	0	1	0	0	0	15468	1116	39	1	1159	1	SYT15	10	46969273	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1030688	46969273	88565474	999	94111											
ERCC6	2074	broad.mit.edu	37	chr10	50732687	50732687	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctgatgcttcattaagcatGatttttctgggctttttctc	7	9	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:50732687G>A	uc001jhs.3	-	5	943	c.789C>T	c.(787-789)ATC>ATT	p.I263I	PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Silent_p.I263I|PGBD3_uc001jhu.2_Silent_p.I263I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	263					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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CATTAAGCATGATTTTTCTGG	0.448								Direct_reversal_of_damage|NER					A	50732687	G	A	50732687	2	1	172	1	0	0	0	0	0	0	0	1	5217	1280	45	4		4	ERCC6	10	50732687	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3763414	50732687	84802060	1000	94112											
AGAP7	653268	broad.mit.edu	37	chr10	51465538	51465538	+	Frame_Shift_Del	DEL	T	T	-													gatgtctgaaggtcaatctcTtttttatgaatatacttcat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:51465538delT	uc001jio.2	-	7	1044	c.918delA	c.(916-918)AAAfs	p.K306fs	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	306	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GGTCAATCTCTTTTTTATGAA	0.443													-	51465538	T	-	51465538	7	5	172	1	0	1	0	1	0	0	0	0	373	1606	56	0	1077	0	AGAP7	10	51465538	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	732851	51465538	84069209	1001	94113											
CISD1	55847	broad.mit.edu	37	chr10	60036948	60036948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctagcttacaaaagatttTatgttaaagatcatcgaaat	5	5	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:60036948T>C	uc001jkc.3	+	2	242	c.103T>C	c.(103-105)TAT>CAT	p.Y35H		NM_018464	NP_060934	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1	35	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	2 iron, 2 sulfur cluster binding|metal ion binding				0						CAAAAGATTTTATGTTAAAGA	0.378													C	60036948	T	C	60036948	3	2	172	1	0	0	0	0	1	0	0	0	3435	1754	61	3	109	3	CISD1	10	60036948	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	8571410	60036948	75497799	1002	94114											
ANK3	288	broad.mit.edu	37	chr10	61827769	61827769	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatggactctgtggaccTacgatttacaatttcttaat	6	9	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:61827769T>C	uc001jky.2	-	38	12437	c.12245_splice	c.e38-1	p.G4082_splice	ANK3_uc001jkw.2_Splice_Site_p.S603_splice|ANK3_uc009xpa.2_Splice_Site_p.S603_splice|ANK3_uc001jkx.2_Splice_Site_p.S647_splice|ANK3_uc010qih.1_Splice_Site_p.S1470_splice|ANK3_uc001jkz.3_Splice_Site_p.S1463_splice|ANK3_uc001jkv.2_Splice_Site_p.S2_splice|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCTGTGGACCTACGATTTACA	0.393													C	61827769	T	C	61827769	5	2	172	1	0	0	0	0	0	0	1	0	622	1536	53	3	1227	3	ANK3	10	61827769	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1790821	61827769	73706978	1003	94115											
EGR2	1959	broad.mit.edu	37	chr10	64573620	64573620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagtggagtgagtggagGgggcacccgcagggtgtcca	20	7	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:64573620G>A	uc010qim.1	-	3	932	c.778C>T	c.(778-780)CCT>TCT	p.P260S	EGR2_uc010qin.1_Missense_Mutation_p.P210S|EGR2_uc001jmi.2_Missense_Mutation_p.P260S|EGR2_uc010qio.1_Missense_Mutation_p.P273S|EGR2_uc009xph.2_Missense_Mutation_p.P260S	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	260					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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTGAGTGGAGGGGGCACCCGC	0.632													A	64573620	G	A	64573620	3	1	172	1	0	0	0	0	1	0	0	0	4972	1232	43	4	656	4	EGR2	10	64573620	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2745851	64573620	70961127	1004	94116											
CTNNA3	29119	broad.mit.edu	37	chr10	67829230	67829230	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttttctgcctcaggCagttgagtcatcttagccta	7	10	5	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:67829230C>A	uc009xpn.1	-	15	2118	c.1995G>T	c.(1993-1995)CTG>CTT	p.L665L	CTNNA3_uc001jmw.2_Silent_p.L665L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	665					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CTGCCTCAGGCAGTTGAGTCA	0.348													A	67829230	C	A	67829230	2	1	172	1	0	0	0	0	0	0	0	1	4014	697	25	5		5	CTNNA3	10	67829230	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3255610	67829230	67705517	1005	94117											
MYPN	84665	broad.mit.edu	37	chr10	69926167	69926167	+	Frame_Shift_Del	DEL	C	C	-													agcctccatctgtggaacaaCcccccaaacccaaactcgag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:69926167delC	uc001jnm.3	+	11	1902	c.1717delC	c.(1717-1719)CCCfs	p.P573fs	MYPN_uc001jnl.1_Frame_Shift_Del_p.P573fs|MYPN_uc001jnn.3_Frame_Shift_Del_p.P298fs|MYPN_uc001jno.3_Frame_Shift_Del_p.P573fs|MYPN_uc009xps.2_Frame_Shift_Del_p.P573fs|MYPN_uc009xpt.2_Frame_Shift_Del_p.P573fs|MYPN_uc010qit.1_Frame_Shift_Del_p.P279fs|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	573						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						TGTGGAACAACCCCCCAAACC	0.577													-	69926167	C	-	69926167	7	5	172	1	0	1	0	1	0	0	0	0	10098	507	18	0	1751	0	MYPN	10	69926167	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	2096937	69926167	65608580	1006	94118											
CCAR1	55749	broad.mit.edu	37	chr10	70509441	70509441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaagttttctttagatTggtaggttattccccaccca	6	9	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:70509441T>C	uc001joo.2	+	10	1236	c.1117T>C	c.(1117-1119)TGT>CGT	p.C373R	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.C178R|CCAR1_uc009xpx.1_Missense_Mutation_p.C347R|CCAR1_uc001jon.1_Missense_Mutation_p.C319R|CCAR1_uc010qiz.1_Missense_Mutation_p.C358R|CCAR1_uc010qja.1_Missense_Mutation_p.C358R|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	373					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			ovary(6)|large_intestine(1)	7						TTCTTTAGATTGGTAGGTTAT	0.403													C	70509441	T	C	70509441	3	2	172	1	0	0	0	0	1	0	0	0	2730	1826	63	3	1151	3	CCAR1	10	70509441	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	583274	70509441	65025306	1007	94119											
KIAA1279	26128	broad.mit.edu	37	chr10	70768669	70768669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaactggaaagatctcaGccacagaagacagtaagttt	9	8	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:70768669G>A	uc001joy.2	+	5	958	c.862G>A	c.(862-864)GCC>ACC	p.A288T		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	288					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						AAAGATCTCAGCCACAGAAGA	0.284													A	70768669	G	A	70768669	3	1	172	1	0	0	0	0	1	0	0	0	8221	971	34	2	880	2	KIAA1279	10	70768669	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	259228	70768669	64766078	1008	94120											
HKDC1	80201	broad.mit.edu	37	chr10	71026488	71026488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgtggccaagaggtTacagcaggcacagaaggaga	14	9	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:71026488T>C	uc001jpf.3	+	18	2862	c.2729T>C	c.(2728-2730)TTA>TCA	p.L910S	HKDC1_uc010qje.1_Missense_Mutation_p.L773S|HKDC1_uc009xqb.2_RNA	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	910					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						GCCAAGAGGTTACAGCAGGCA	0.512													C	71026488	T	C	71026488	3	2	172	1	0	0	0	0	1	0	0	0	7193	1764	61	3	2799	3	HKDC1	10	71026488	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	257819	71026488	64508259	1009	94121											
CDH23	64072	broad.mit.edu	37	chr10	73405660	73405660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatctccccgacctccGtccaggggaaggcggacatt	10	15	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:73405660G>A	uc001jrx.3	+	12	1590	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	CDH23_uc001jrw.3_Missense_Mutation_p.V405I|CDH23_uc001jry.2_Missense_Mutation_p.V21I|CDH23_uc001jrz.2_Missense_Mutation_p.V21I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	405	Cadherin 4.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCCGACCTCCGTCCAGGGGAA	0.567													A	73405660	G	A	73405660	3	1	172	1	0	0	0	0	1	0	0	0	3108	1145	40	1	1342	1	CDH23	10	73405660	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2379172	73405660	62129087	1010	94122											
CDH23	64072	broad.mit.edu	37	chr10	73491866	73491866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagaccaagaccagctacAtgatgaatgtgtcggccact	10	11	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:73491866A>G	uc001jrx.3	+	31	4215	c.3838A>G	c.(3838-3840)ATG>GTG	p.M1280V	CDH23_uc001jrz.2_Missense_Mutation_p.M896V|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.M88V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1280	Cadherin 12.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GACCAGCTACATGATGAATGT	0.572													G	73491866	A	G	73491866	3	3	172	1	0	0	0	0	1	0	0	0	3108	217	8	3	4267	3	CDH23	10	73491866	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	86206	73491866	62042881	1011	94123											
CDH23	64072	broad.mit.edu	37	chr10	73571099	73571099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgatcgatgagaacaaGgagcagctacggaatctttt	11	7	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:73571099G>A	uc001jrx.3	+	61	9482	c.9105G>A	c.(9103-9105)AAG>AAA	p.K3035K	CDH23_uc001jsg.3_Silent_p.K795K|CDH23_uc001jsh.3_Silent_p.K795K|CDH23_uc001jsi.3_Silent_p.K795K|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3035	Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ATGAGAACAAGGAGCAGCTAC	0.607													A	73571099	G	A	73571099	2	1	172	1	0	0	0	0	0	0	0	1	3108	991	35	4		4	CDH23	10	73571099	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	79233	73571099	61963648	1012	94124											
OIT3	170392	broad.mit.edu	37	chr10	74684031	74684031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaacctcgtgacaggtctAcccaagcagaccccggggag	12	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:74684031A>G	uc001jte.1	+	7	1214	c.996A>G	c.(994-996)CTA>CTG	p.L332L	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	332	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					TGACAGGTCTACCCAAGCAGA	0.552													G	74684031	A	G	74684031	2	3	172	1	0	0	0	0	0	0	0	1	10849	378	14	3		3	OIT3	10	74684031	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1112932	74684031	60850716	1013	94125											
USP54	159195	broad.mit.edu	37	chr10	75279629	75279629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggctgctgtggtgattgCtgctgctgcatgcgatcctg	15	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75279629C>T	uc001juo.2	-	17	2621	c.2604G>A	c.(2602-2604)CAG>CAA	p.Q868Q	USP54_uc010qkk.1_Silent_p.Q50Q|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Silent_p.Q868Q	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	868	Poly-Gln.				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GTGGTGATTGCTGCTGCTGCA	0.557													T	75279629	C	T	75279629	2	4	172	1	0	0	0	0	0	0	0	1	17082	796	28	2		2	USP54	10	75279629	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	595598	75279629	60255118	1014	94126											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407636	75407636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcgcctctgggcgcgCagagggtcgcaaaggcgcag	19	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75407636C>T	uc001jut.3	-	4	1926	c.1774G>A	c.(1774-1776)GCG>ACG	p.A592T	SYNPO2L_uc001jus.3_Missense_Mutation_p.A368T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	592	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					TCTGGGCGCGCAGAGGGTCGC	0.692													T	75407636	C	T	75407636	3	4	172	1	0	0	0	0	1	0	0	0	15455	710	25	2	1163	2	SYNPO2L	10	75407636	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	128007	75407636	60127111	1015	94127											
NDST2	8509	broad.mit.edu	37	chr10	75567574	75567575	+	Frame_Shift_Ins	INS	-	-	A													ggagccccaagtttgagtgtINSaaaaaaaggggaaagccctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75567574_75567575insA	uc001jvk.2	-	3	1376_1377	c.572_573insT	c.(571-573)TTAfs	p.L191fs	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Ins_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Ins_p.L68fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	191	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					AGTTTGAGTGTAAAAAAAGGGG	0.589													A	75567575	-	A	75567574	7	5	172	1	0	1	1	0	0	0	0	0	10256	1635	57	0	2130	0	NDST2	10	75567574	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	159938	75567574	59967173	1016	94128	462	2									
NDST2	8509	broad.mit.edu	37	chr10	75567575	75567576	+	Frame_Shift_Ins	INS	-	-	A													gagccccaagtttgagtgtaINSaaaaaaggggaaagcccttg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:75567574_75567575T>TA	uc001jvk.2	-	2	1376_1377	c.572_573A>TA	c.(571-573)ttafs	p.L191fs	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Ins_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Ins_p.L68fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	191	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L191fs*12(2)		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)					AGTTTGAGTGTAAAAAAAGGGG	0.589													A	75567576	-	A	75567575	7	5	172	1	0	1	1	0	0	0	0	0	10256	372	13	0	2131	0	NDST2	10	75567575	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	75567575	59967172	1017	94129	462	2									
POLR3A	11128	broad.mit.edu	37	chr10	79761979	79761979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgcacagagccatggTgagggggctgttgctcttgt	17	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:79761979T>C	uc001jzn.2	-	17	2429	c.2335A>G	c.(2335-2337)ACC>GCC	p.T779A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	779					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				0	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)			AGAGCCATGGTGAGGGGGCTG	0.582													C	79761979	T	C	79761979	3	2	172	1	0	0	0	0	1	0	0	0	12228	1696	59	3	1897	3	POLR3A	10	79761979	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4194404	79761979	55772768	1018	94130											
GRID1	2894	broad.mit.edu	37	chr10	87484209	87484209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagccctcacagcctgTatcctgttcaacacaaatat	5	14	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:87484209T>C	uc001kdl.1	-	11	1859	c.1758A>G	c.(1756-1758)ATA>ATG	p.I586M	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.I157M	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	586	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TCACAGCCTGTATCCTGTTCA	0.552										Multiple Myeloma(13;0.14)			C	87484209	T	C	87484209	3	2	172	1	0	0	0	0	1	0	0	0	6771	1628	57	3	1295	3	GRID1	10	87484209	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	7722230	87484209	48050538	1019	94131											
GLUD1	2746	broad.mit.edu	37	chr10	88820800	88820800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagagtgtaggcccacatTaccaaatccctgtgaagaac	8	11	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:88820800T>C	uc001keh.2	-	7	1028	c.931A>G	c.(931-933)AAT>GAT	p.N311D	GLUD1_uc001keg.2_Missense_Mutation_p.N144D|GLUD1_uc010qmp.1_Missense_Mutation_p.N178D	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	311					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				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGGCCCACATTACCAAATCCC	0.373													C	88820800	T	C	88820800	3	2	172	1	0	0	0	0	1	0	0	0	6476	1754	61	3	773	3	GLUD1	10	88820800	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1336591	88820800	46713947	1020	94132											
STAMBPL1	57559	broad.mit.edu	37	chr10	90665321	90665321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacatcactccacgacgttActttaggtctggagtagaga	10	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:90665321A>G	uc001kfk.2	+	3	575	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	STAMBPL1_uc010qmx.1_Missense_Mutation_p.Y51C|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.Y51C|STAMBPL1_uc001kfm.2_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	51							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCACGACGTTACTTTAGGTCT	0.418													G	90665321	A	G	90665321	3	3	172	1	0	0	0	0	1	0	0	0	15250	391	14	3	158	3	STAMBPL1	10	90665321	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1844521	90665321	44869426	1021	94133											
PANK1	53354	broad.mit.edu	37	chr10	91359120	91359120	+	Frame_Shift_Del	DEL	T	T	-													ggttatcaaggcagtacggcTttttttgacacaattcagga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:91359119_91359119CT>C	uc001kgp.2	-	2	1470	c.1200_1200AG>G	c.(1198-1200)aagfs	p.K400fs	PANK1_uc001kgn.2_Frame_Shift_Del_p.K175fs|PANK1_uc001kgo.2_Frame_Shift_Del_p.K175fs|PANK1_uc009xtu.2_Frame_Shift_Del_p.K202fs	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	400					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)	GGCAGTACGGCTTTTTTTGAC	0.433													-	91359120	T	-	91359120	7	5	172	1	0	1	0	1	0	0	0	0	11416	1609	56	0	617	0	PANK1	10	91359120	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	693799	91359120	44175627	1022	94134											
NOC3L	64318	broad.mit.edu	37	chr10	96117944	96117944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaagggcttcttcttcTtcctcttcttccctctcaat	5	13	6	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:96117944T>C	uc001kjq.1	-	3	334	c.246A>G	c.(244-246)GAA>GAG	p.E82E	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	82						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				CTTCTTCTTCTTCCTCTTCTT	0.358													C	96117944	T	C	96117944	2	2	172	1	0	0	0	0	0	0	0	1	10514	1606	56	3		3	NOC3L	10	96117944	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4758824	96117944	39416803	1023	94135											
CYP2C19	1557	broad.mit.edu	37	chr10	96541727	96541727	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaccctcgggactttatTgattgcttcctgatcaaaat	6	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:96541727T>C	uc010qnz.1	+	5	792	c.792T>C	c.(790-792)ATT>ATC	p.I264I	CYP2C19_uc009xus.1_Silent_p.I129I|CYP2C19_uc010qny.1_Silent_p.I242I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	264					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			ovary(4)|central_nervous_system(1)|skin(1)	6		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)	GGGACTTTATTGATTGCTTCC	0.338													C	96541727	T	C	96541727	2	2	172	1	0	0	0	0	0	0	0	1	4166	1800	63	3		3	CYP2C19	10	96541727	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	423783	96541727	38993020	1024	94136											
TM9SF3	56889	broad.mit.edu	37	chr10	98292872	98292872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagttgggctgacctgAcagatttcggccaagtattg	13	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:98292872A>G	uc001kmm.3	-	10	1478	c.1261T>C	c.(1261-1263)TCA>CCA	p.S421P	TM9SF3_uc010qot.1_Missense_Mutation_p.S421P	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	421						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GGCTGACCTGACAGATTTCGG	0.388													G	98292872	A	G	98292872	3	3	172	1	0	0	0	0	1	0	0	0	15976	275	10	3	532	3	TM9SF3	10	98292872	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1751145	98292872	37241875	1025	94137											
PYROXD2	84795	broad.mit.edu	37	chr10	100167414	100167414	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgggagaacttaaacccTgaaaccgaatccgatgaaga	11	10	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:100167414T>G	uc001kpc.2	-	4	328	c.242_splice	c.e4-1	p.G81_splice	PYROXD2_uc001kpb.2_Splice_Site|PYROXD2_uc001kpd.2_Splice_Site|PYROXD2_uc010qpe.1_Splice_Site_p.G81_splice	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase								oxidoreductase activity			central_nervous_system(1)	1						ACTTAAACCCTGAAACCGAAT	0.622													G	100167414	T	G	100167414	5	3	172	1	0	0	0	0	0	0	1	0	12867	1594	55	5	1557	5	PYROXD2	10	100167414	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1874542	100167414	35367333	1026	94138											
CPN1	1369	broad.mit.edu	37	chr10	101841235	101841235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgctgcgcccaatgcTgtagacccgcgtgatgccgg	12	16	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:101841235T>G	uc001kql.2	-	1	408	c.148A>C	c.(148-150)AGC>CGC	p.S50R		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	50	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGCCCAATGCTGTAGACCCGC	0.592													G	101841235	T	G	101841235	3	3	172	1	0	0	0	0	1	0	0	0	3809	1580	55	5	1264	5	CPN1	10	101841235	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1673821	101841235	33693512	1027	94139											
TLX1	3195	broad.mit.edu	37	chr10	102893955	102893955	+	Frame_Shift_Del	DEL	C	C	-													acccctatcagaaccggacgCcccccaagaagaagaagccg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:102893955delC	uc001ksw.2	+	2	830	c.592delC	c.(592-594)CCCfs	p.P198fs		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAACCGGACGCCCCCCAAGAA	0.627			T	TRB@|TRD@	T-ALL								-	102893955	C	-	102893955	7	5	172	1	0	1	0	1	0	0	0	0	15956	739	26	0	598	0	TLX1	10	102893955	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	1052720	102893955	32640792	1028	94140											
BTRC	8945	broad.mit.edu	37	chr10	103310573	103310573	+	Frame_Shift_Del	DEL	C	C	-													atccagctgcccaagctgaaCccccccgttccccttctcga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:103310572_103310572AC>A	uc001kta.3	+	13	1886	c.1773_1773AC>A	c.(1771-1773)gaafs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Del_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Del_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTT	0.433													-	103310573	C	-	103310573	7	5	172	1	0	1	0	1	0	0	0	0	1569	507	18	0	1828	0	BTRC	10	103310573	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	416618	103310573	32224174	1029	94141											
GBF1	8729	broad.mit.edu	37	chr10	104117861	104117861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagaagagatcccctcgGcccccacgccatatgaccaa	7	16	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:104117861G>A	uc001kux.1	+	9	945	c.705G>A	c.(703-705)CGG>CGA	p.R235R	GBF1_uc001kuw.2_Silent_p.R235R|GBF1_uc001kuy.1_Silent_p.R235R|GBF1_uc001kuz.1_Silent_p.R235R	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	235					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATCCCCTCGGCCCCCACGCC	0.498													A	104117861	G	A	104117861	2	1	172	1	0	0	0	0	0	0	0	1	6271	1190	42	2		2	GBF1	10	104117861	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	807288	104117861	31416886	1030	94142											
NT5C2	22978	broad.mit.edu	37	chr10	104860806	104860806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagtatatacatacctggTatatctgggacaattagtaa	7	5	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:104860806T>C	uc001kwo.2	-	8	721	c.535A>G	c.(535-537)ACC>GCC	p.T179A	NT5C2_uc010qqp.1_Missense_Mutation_p.T150A|NT5C2_uc001kwq.2_Missense_Mutation_p.T179A|NT5C2_uc001kwp.2_Translation_Start_Site	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	179					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		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)	ACATACCTGGTATATCTGGGA	0.303													C	104860806	T	C	104860806	3	2	172	1	0	0	0	0	1	0	0	0	10687	1638	57	3	1198	3	NT5C2	10	104860806	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	742945	104860806	30673941	1031	94143											
ADRA2A	150	broad.mit.edu	37	chr10	112839027	112839029	+	In_Frame_Del	DEL	TTC	TTC	-													tgccacgcacgctcttcaaaTtcttcttctggttcggctac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:112839027_112839029delTTC	uc001kzo.2	+	1	2238_2240	c.1273_1275delTTC	c.(1273-1275)TTCdel	p.F427del		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	412	Helical; Name=7; (By similarity).			F->N: 350-fold reduced affinity for alpha-2 antagonist yohimbine, 3000-fold increase for beta-antagonist alprenolol.	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCTCTTCAAATTCTTCTTCTGGT	0.576													-	112839029	TTC	-	112839027	7	5	172	1	0	1	0	1	0	0	0	0	337	1493	52	0	1275	0	ADRA2A	10	112839027	In_Frame_Del	DEL	TTC	TCGA-CG-4442-01A-01D-1158-08	7978221	112839027	22695720	1032	94144											
NHLRC2	374354	broad.mit.edu	37	chr10	115639427	115639427	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aataatatcatatatgtggcAgacactgaaaaccaccttat	5	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:115639427A>T	uc001lax.1	+	4	1094	c.882A>T	c.(880-882)GCA>GCT	p.A294A		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	294	NHL 2.				cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		TATATGTGGCAGACACTGAAA	0.289													T	115639427	A	T	115639427	2	4	172	1	0	0	0	0	0	0	0	1	10406	175	7	5		5	NHLRC2	10	115639427	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2800400	115639427	19895320	1033	94145											
ATRNL1	26033	broad.mit.edu	37	chr10	116881571	116881571	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcacctttaatagctgtActtaggtgagtaattatatt	7	5	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:116881571A>G	uc001lcg.2	+	3	872	c.486A>G	c.(484-486)GTA>GTG	p.V162V	ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.V162V|ATRNL1_uc009xyq.2_Silent_p.V162V	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	162	CUB.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		TAATAGCTGTACTTAGGTGAG	0.284													G	116881571	A	G	116881571	2	3	172	1	0	0	0	0	0	0	0	1	1207	378	14	3		3	ATRNL1	10	116881571	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1242144	116881571	18653176	1034	94146											
KCNK18	338567	broad.mit.edu	37	chr10	118960795	118960795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcacggtgttcagcaccGtgggtaagtgcaaagccaca	13	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:118960795G>A	uc010qsr.1	+	2	349	c.349G>A	c.(349-351)GTG>ATG	p.V117M		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	117						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		GTTCAGCACCGTGGGTAAGTG	0.562													A	118960795	G	A	118960795	3	1	172	1	0	0	0	0	1	0	0	0	8065	1145	40	1	355	1	KCNK18	10	118960795	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2079224	118960795	16573952	1035	94147											
INPP5F	22876	broad.mit.edu	37	chr10	121587268	121587268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagatgtttatacaatgCcagacacggataattcagat	7	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:121587268C>T	uc001leo.2	+	20	3541	c.3375C>T	c.(3373-3375)TGC>TGT	p.C1125C	INPP5F_uc001lep.2_Silent_p.C515C	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1125							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTATACAATGCCAGACACGGA	0.328													T	121587268	C	T	121587268	2	4	172	1	0	0	0	0	0	0	0	1	7758	747	26	2		2	INPP5F	10	121587268	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2626473	121587268	13947479	1036	94148											
TACC2	10579	broad.mit.edu	37	chr10	123842738	123842738	+	Frame_Shift_Del	DEL	G	G	-													ccccctgcagagtccaggcaGggggtggcttctgtgcaagt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:123842738delG	uc001lfv.2	+	4	1083	c.723delG	c.(721-723)CAGfs	p.Q241fs	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Frame_Shift_Del_p.Q241fs|TACC2_uc010qtv.1_Frame_Shift_Del_p.Q241fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	241						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTCCAGGCAGGGGGTGGCTT	0.617													-	123842738	G	-	123842738	7	5	172	1	0	1	0	1	0	0	0	0	15499	991	35	0	733	0	TACC2	10	123842738	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	2255470	123842738	11692009	1037	94149											
TACC2	10579	broad.mit.edu	37	chr10	123971212	123971212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccaagaagaagaagacGcccctaaagacgtaagttca	9	12	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:123971212G>A	uc001lfv.2	+	9	7632	c.7272G>A	c.(7270-7272)ACG>ACA	p.T2424T	TACC2_uc001lfw.2_Silent_p.T570T|TACC2_uc009xzx.2_Silent_p.T2379T|TACC2_uc010qtv.1_Silent_p.T2428T|TACC2_uc001lfx.2_Silent_p.T128T|TACC2_uc001lfy.2_Silent_p.T128T|TACC2_uc001lfz.2_Silent_p.T502T|TACC2_uc001lga.2_Silent_p.T502T|TACC2_uc009xzy.2_Silent_p.T502T|TACC2_uc001lgb.2_Silent_p.T459T|TACC2_uc010qtw.1_Silent_p.T519T	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2424						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAAGAAGACGCCCCTAAAGA	0.557													A	123971212	G	A	123971212	2	1	172	1	0	0	0	0	0	0	0	1	15499	1074	38	1		1	TACC2	10	123971212	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	128474	123971212	11563535	1038	94150											
C10orf120	399814	broad.mit.edu	37	chr10	124457553	124457554	+	Frame_Shift_Ins	INS	-	-	T													tatttctcgtctttttgtgtINStttttccctctgcctcctct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:124457552_124457553G>GT	uc001lgn.3	-	2	736_737	c.704_705C>AC	c.(703-705)aacfs	p.N235fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	235										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTTTTTGTGTTTTTTCCCTC	0.371													T	124457554	-	T	124457553	7	5	172	1	0	1	1	0	0	0	0	0	1590	1725	60	0	307	0	C10orf120	10	124457553	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	486341	124457553	11077194	1039	94151											
CTBP2	1488	broad.mit.edu	37	chr10	126683183	126683183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgatcccatcctgcaagTaggggtcataaaatatgacg	10	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:126683183T>C	uc009yak.2	-	7	922	c.635A>G	c.(634-636)TAC>TGC	p.Y212C	CTBP2_uc009yal.2_Missense_Mutation_p.Y212C|CTBP2_uc001lif.3_Missense_Mutation_p.Y212C|CTBP2_uc001lih.3_Missense_Mutation_p.Y212C|CTBP2_uc001lid.3_Missense_Mutation_p.Y280C|CTBP2_uc001lie.3_Missense_Mutation_p.Y752C	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	212					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				0		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)		ATCCTGCAAGTAGGGGTCATA	0.567													C	126683183	T	C	126683183	3	2	172	1	0	0	0	0	1	0	0	0	3998	1638	57	3	722	3	CTBP2	10	126683183	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2225630	126683183	8851564	1040	94152											
UROS	7390	broad.mit.edu	37	chr10	127504804	127504804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaacagggatcaaagtgGcttcaagtccatataatcct	7	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:127504804G>A	uc001liw.3	-	2	222	c.89C>T	c.(88-90)GCC>GTC	p.A30V	UROS_uc001liv.3_5'Flank|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.A30V|UROS_uc001liy.3_RNA|UROS_uc001liz.2_5'Flank	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	30					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GATCAAAGTGGCTTCAAGTCC	0.368													A	127504804	G	A	127504804	3	1	172	1	0	0	0	0	1	0	0	0	17027	1203	42	2	740	2	UROS	10	127504804	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	821621	127504804	8029943	1041	94153											
DOCK1	1793	broad.mit.edu	37	chr10	129237392	129237392	+	Frame_Shift_Del	DEL	A	A	-													gaagaaggacaagaagaaggAaaaaaggaacagcaaacatc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:129237392delA	uc001ljt.2	+	49	5163	c.5099delA	c.(5098-5100)GAAfs	p.E1700fs	DOCK1_uc010qun.1_Frame_Shift_Del_p.E1721fs|DOCK1_uc009yaq.2_Frame_Shift_Del_p.E695fs	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1700					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			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		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)		aagaagaaggaaaaaaggaaC	0.393													-	129237392	A	-	129237392	7	5	172	1	0	1	0	1	0	0	0	0	4684	246	9	0	5293	0	DOCK1	10	129237392	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1732588	129237392	6297355	1042	94154											
BNIP3	664	broad.mit.edu	37	chr10	133784230	133784230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgccccctttcttcaTgacgctcgtgttcctcatgc	7	14	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:133784230T>C	uc001lkv.1	-	5	577	c.451A>G	c.(451-453)ATG>GTG	p.M151V	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.M151V	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	151					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCTTTCTTCATGACGCTCGTG	0.522													C	133784230	T	C	133784230	3	2	172	1	0	0	0	0	1	0	0	0	1478	1464	51	3	141	3	BNIP3	10	133784230	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4546838	133784230	1750517	1043	94155											
C10orf91	170393	broad.mit.edu	37	chr10	134261301	134261301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctgttcacagagaaAcctcagacaagaagcacgtc	8	12	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:134261301A>G	uc001llm.2	+	3	214	c.174A>G	c.(172-174)AAA>AAG	p.K58K		NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN	hypothetical protein LOC170393	58										ovary(1)	1		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)		TCACAGAGAAACCTCAGACAA	0.567													G	134261301	A	G	134261301	2	3	172	1	0	0	0	0	0	0	0	1	1624	40	2	3		3	C10orf91	10	134261301	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	477071	134261301	1273446	1044	94156											
ADAM8	101	broad.mit.edu	37	chr10	135083930	135083930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccatcctctgtggtgagCgcgtggcacacatccacgat	12	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:135083930C>T	uc010qva.1	-	15	1653	c.1602G>A	c.(1600-1602)GCG>GCA	p.A534A	ADAM8_uc010quz.1_Silent_p.A573A|ADAM8_uc009ybi.2_Silent_p.A573A			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	534					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		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)		CTGTGGTGAGCGCGTGGCACA	0.667													T	135083930	C	T	135083930	2	4	172	1	0	0	0	0	0	0	0	1	252	755	27	1		1	ADAM8	10	135083930	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	822629	135083930	450817	1045	94157											
TUBGCP2	10844	broad.mit.edu	37	chr10	135106172	135106172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtggaccccccaagacattCgcctttgtccaccgaggtgg	11	15	0	1	rs145003131		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr10:135106172C>T	uc001lmg.1	-	8	1402	c.1045G>A	c.(1045-1047)GAA>AAA	p.E349K	TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Missense_Mutation_p.E377K|TUBGCP2_uc009ybk.1_Missense_Mutation_p.E349K|TUBGCP2_uc010qvd.1_Missense_Mutation_p.E219K|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	349					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		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)		CCAAGACATTCGCCTTTGTCC	0.627													T	135106172	C	T	135106172	3	4	172	1	0	0	0	0	1	0	0	0	16763	893	31	1	1707	1	TUBGCP2	10	135106172	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	22242	135106172	428575	1046	94158											
LRDD	55367	broad.mit.edu	37	chr11	802043	802043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgaccaccacttcacgGcagcgccgggcctgcggtgg	14	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:802043G>A	uc001lro.1	-	7	1366	c.1224C>T	c.(1222-1224)TGC>TGT	p.C408C	LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.C408C|LRDD_uc001lrl.1_Silent_p.C262C|LRDD_uc001lrm.1_Silent_p.C95C|LRDD_uc001lrn.1_Silent_p.C262C|LRDD_uc001lrp.1_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	408	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		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)		CCACTTCACGGCAGCGCCGGG	0.672													A	802043	G	A	802043	2	1	172	1	0	0	0	0	0	0	0	1	8936	1195	42	2		2	LRDD	11	802043	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08		802043	134204473	1047	94159											
AP2A2	161	broad.mit.edu	37	chr11	959505	959505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatcagatcaaaatttaaaGgtaagtatgtttaacctttt	5	4	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:959505G>T	uc001lss.2	+	2	317	c.136G>T	c.(136-138)GGT>TGT	p.G46C	AP2A2_uc001lst.1_Missense_Mutation_p.G46C|AP2A2_uc009yco.1_RNA	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	46	Lipid-binding.				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				0		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)		AAAATTTAAAGGTAAGTATGT	0.289													T	959505	G	T	959505	3	4	172	1	0	0	0	0	1	0	0	0	740	1014	35	5	142	5	AP2A2	11	959505	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	157462	959505	134047011	1048	94160											
SYT8	90019	broad.mit.edu	37	chr11	1857151	1857151	+	Frame_Shift_Del	DEL	G	G	-													gatggcctggagtccagcccGggggatgctcagcaatgggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:1857150_1857150CG>C	uc001lue.1	+	3	463	c.335_335CG>C	c.(334-336)ccgfs	p.P112fs	SYT8_uc010qxb.1_Frame_Shift_Del_p.P98fs|SYT8_uc001lud.2_Frame_Shift_Del_p.P112fs	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	112						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		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)		GAGTCCAGCCCGGGGGATGCT	0.642													-	1857151	G	-	1857151	7	5	172	1	0	1	0	1	0	0	0	0	15477	1103	39	0	350	0	SYT8	11	1857151	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	897646	1857151	133149365	1049	94161											
SYT8	90019	broad.mit.edu	37	chr11	1858627	1858627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctggccctgcagccccGccttcgcctgcgcctgccct	10	21	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:1858627G>A	uc001lue.1	+	9	1300	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H	SYT8_uc001lud.2_Missense_Mutation_p.R391H|SYT8_uc001luf.1_Missense_Mutation_p.R377H|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	391	Cytoplasmic (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		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)		CTGCAGCCCCGCCTTCGCCTG	0.726													A	1858627	G	A	1858627	3	1	172	1	0	0	0	0	1	0	0	0	15477	1087	38	1	1206	1	SYT8	11	1858627	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1476	1858627	133147889	1050	94162											
TH	7054	broad.mit.edu	37	chr11	2192945	2192945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgatggcctctgcctgCttggcgtccagctcagacac	10	15	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:2192945C>T	uc001lvq.2	-	1	91	c.72G>A	c.(70-72)AAG>AAA	p.K24K	TH_uc001lvp.2_Silent_p.K24K|TH_uc001lvr.2_Silent_p.K24K|TH_uc010qxj.1_Silent_p.K24K|TH_uc001lvs.2_Silent_p.K24K|TH_uc001lvt.2_Silent_p.K24K	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	24					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				0		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)	CCTCTGCCTGCTTGGCGTCCA	0.701													T	2192945	C	T	2192945	2	4	172	1	0	0	0	0	0	0	0	1	15835	796	28	2		2	TH	11	2192945	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	334318	2192945	132813571	1051	94163											
OSBPL5	114879	broad.mit.edu	37	chr11	3141754	3141754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcagtgcagcagcaccGtgcccacccactggcccacc	10	20	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:3141754G>A	uc001lxk.2	-	6	661	c.503C>T	c.(502-504)ACG>ATG	p.T168M	OSBPL5_uc010qxq.1_Intron|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Missense_Mutation_p.T192M	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	168	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		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)		CAGCAGCACCGTGCCCACCCA	0.647													A	3141754	G	A	3141754	3	1	172	1	0	0	0	0	1	0	0	0	11280	1145	40	1	2204	1	OSBPL5	11	3141754	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	948809	3141754	131864762	1052	94164											
ZNF195	7748	broad.mit.edu	37	chr11	3380779	3380779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtttttcttcagaatgagTtctcttatggttagaaaggc	11	5	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:3380779T>C	uc001lxt.2	-	6	1637	c.1459A>G	c.(1459-1461)ACT>GCT	p.T487A	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.T464A|ZNF195_uc001lxs.2_Missense_Mutation_p.T415A|ZNF195_uc010qxr.1_Missense_Mutation_p.T468A|ZNF195_uc009ydz.2_Missense_Mutation_p.T442A|ZNF195_uc001lxu.2_Missense_Mutation_p.T419A	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	487	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TCAGAATGAGTTCTCTTATGG	0.428													C	3380779	T	C	3380779	3	2	172	1	0	0	0	0	1	0	0	0	17755	1725	60	3	434	3	ZNF195	11	3380779	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	239025	3380779	131625737	1053	94165											
ART1	417	broad.mit.edu	37	chr11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-													ggagaggaagaggtgctgatCcccccctttgagaccttcca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:3681477_3681477TC>T	uc001lye.1	+	2	829	c.728_728TC>T	c.(727-729)atcfs	p.I243fs	ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GAGGTGCTGATCCCCCCCTTT	0.612													-	3681478	C	-	3681478	7	5	172	1	0	1	0	1	0	0	0	0	997	845	30	0	735	0	ART1	11	3681478	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	300699	3681478	131325038	1054	94166											
OR51B2	79345	broad.mit.edu	37	chr11	5345074	5345074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattacaggcaggatggataCaaaaccccttagaaacactc	7	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:5345074C>T	uc001mao.1	-	1	509	c.454G>A	c.(454-456)GTA>ATA	p.V152I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		AGGATGGATACAAAACCCCTT	0.403													T	5345074	C	T	5345074	3	4	172	1	0	0	0	0	1	0	0	0	11089	478	17	4	488	4	OR51B2	11	5345074	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1663596	5345074	129661442	1055	94167											
OR51I1	390063	broad.mit.edu	37	chr11	5462728	5462728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggctggaagggggtgCcattgagacccagcatggtg	17	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:5462728C>T	uc010qze.1	-	1	17	c.17G>A	c.(16-18)GGC>GAC	p.G6D	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGGGGTGCCATTGAGACC	0.507													T	5462728	C	T	5462728	3	4	172	1	0	0	0	0	1	0	0	0	11100	739	26	2	931	2	OR51I1	11	5462728	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	117654	5462728	129543788	1056	94168											
APBB1	322	broad.mit.edu	37	chr11	6432080	6432080	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctcctcctcctcttcAtcatcatcatcctcctcctc	1	20	5	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:6432080A>T	uc001mdb.1	-	2	598	c.498T>A	c.(496-498)GAT>GAA	p.D166E	APBB1_uc001mdc.1_Missense_Mutation_p.D166E|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	166	Glu-rich.				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(2)	2		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)		cctcctcttcatcatcatcat	0.408													T	6432080	A	T	6432080	3	4	172	1	0	0	0	0	1	0	0	0	759	214	8	5	1686	5	APBB1	11	6432080	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	969352	6432080	128574436	1057	94169											
OR2AG2	338755	broad.mit.edu	37	chr11	6789258	6789258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagcgtggaatgtgccaGcagtatgtattttcccagga	12	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:6789258G>A	uc001meq.1	-	1	931	c.931C>T	c.(931-933)CTG>TTG	p.L311L		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483													A	6789258	G	A	6789258	2	1	172	1	0	0	0	0	0	0	0	1	10985	962	34	2		2	OR2AG2	11	6789258	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	357178	6789258	128217258	1058	94170											
OLFML1	283298	broad.mit.edu	37	chr11	7531212	7531212	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgtggtctacagtactggGggccagggccctcatcgcat	13	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:7531212G>T	uc001mfi.2	+	3	1354	c.1002G>T	c.(1000-1002)GGG>GGT	p.G334G	OLFML1_uc010raz.1_Silent_p.G198G|OLFML1_uc010rba.1_Silent_p.G334G	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1 precursor	334	Olfactomedin-like.					extracellular region				ovary(2)	2				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACAGTACTGGGGGCCAGGGCC	0.542													T	7531212	G	T	7531212	2	4	172	1	0	0	0	0	0	0	0	1	10856	1219	43	5		5	OLFML1	11	7531212	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	741954	7531212	127475304	1059	94171											
CYB5R2	51700	broad.mit.edu	37	chr11	7687700	7687700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaatgggaggcctgtccaGggtgtaccacaggttgaact	13	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:7687700G>T	uc001mfm.2	-	8	878	c.640C>A	c.(640-642)CTG>ATG	p.L214M	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.L214M	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	214					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCTGTCCAGGGTGTACCAC	0.498											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7687700	G	T	7687700	3	4	172	1	0	0	0	0	1	0	0	0	4127	991	35	5	198	5	CYB5R2	11	7687700	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	156488	7687700	127318816	1060	94172											
SCUBE2	57758	broad.mit.edu	37	chr11	9096091	9096091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccctccttgcagcagcActcatagctccccatgacgt	6	17	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:9096091A>G	uc001mhh.1	-	4	534	c.454T>C	c.(454-456)TGC>CGC	p.C152R	SCUBE2_uc001mhi.1_Missense_Mutation_p.C152R|SCUBE2_uc001mhj.1_Missense_Mutation_p.C152R	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	152	EGF-like 3; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTGCAGCAGCACTCATAGCTC	0.567													G	9096091	A	G	9096091	3	3	172	1	0	0	0	0	1	0	0	0	13945	159	6	3	2712	3	SCUBE2	11	9096091	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1408391	9096091	125910425	1061	94173											
ZNF143	7702	broad.mit.edu	37	chr11	9530309	9530309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacatacaagcagatctccAcgctggccatgcacaaacgg	9	13	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:9530309A>G	uc001mhr.2	+	12	1409	c.1291A>G	c.(1291-1293)ACG>GCG	p.T431A	ZNF143_uc009yfu.2_Missense_Mutation_p.T430A|ZNF143_uc010rby.1_Missense_Mutation_p.T400A	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	431	C2H2-type 7.				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	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCAGATCTCCACGCTGGCCAT	0.493													G	9530309	A	G	9530309	3	3	172	1	0	0	0	0	1	0	0	0	17729	159	6	3	1333	3	ZNF143	11	9530309	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	434218	9530309	125476207	1062	94174											
FAR1	84188	broad.mit.edu	37	chr11	13732384	13732384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggcaattgtaaggccatcGattgttggtgccagttggaa	14	6	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:13732384G>A	uc001mld.2	+	5	845	c.690G>A	c.(688-690)TCG>TCA	p.S230S	FAR1_uc009ygp.2_Silent_p.S230S	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	230					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						TAAGGCCATCGATTGTTGGTG	0.343													A	13732384	G	A	13732384	2	1	172	1	0	0	0	0	0	0	0	1	5674	1045	37	1		1	FAR1	11	13732384	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4202075	13732384	121274132	1063	94175											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159005	18159005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattatatgttcgccgttaCgcctcatcaatatccgccat	5	13	2	0	rs141255495		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:18159005C>T	uc001mnu.2	+	3	617	c.256C>T	c.(256-258)CGC>TGC	p.R86C		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	86	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TTCGCCGTTACGCCTCATCAA	0.547													T	18159005	C	T	18159005	3	4	172	1	0	0	0	0	1	0	0	0	9768	536	19	1	258	1	MRGPRX3	11	18159005	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4426621	18159005	116847511	1064	94176											
SLC6A5	9152	broad.mit.edu	37	chr11	20622906	20622906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcggccaggagtggggTcttgcaaactcagtagcccg	15	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:20622906T>C	uc001mqd.2	+	2	508	c.235T>C	c.(235-237)TCT>CCT	p.S79P	SLC6A5_uc009yic.2_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	79	Cytoplasmic (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	AGGAGTGGGGTCTTGCAAACT	0.726													C	20622906	T	C	20622906	3	2	172	1	0	0	0	0	1	0	0	0	14687	1667	58	3	241	3	SLC6A5	11	20622906	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2463901	20622906	114383610	1065	94177											
LUZP2	338645	broad.mit.edu	37	chr11	24518834	24518834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctctcctgcctgcGctggtcctcagcaccaggtg	11	17	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:24518834G>A	uc001mqs.2	+	1	279	c.45G>A	c.(43-45)GCG>GCA	p.A15A	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Silent_p.A15A	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	15						extracellular region				ovary(1)|skin(1)	2						TCCTGCCTGCGCTGGTCCTCA	0.662													A	24518834	G	A	24518834	2	1	172	1	0	0	0	0	0	0	0	1	9087	1074	38	1		1	LUZP2	11	24518834	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3895928	24518834	110487682	1066	94178											
BDNF	627	broad.mit.edu	37	chr11	27679694	27679694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactaatactgtcacacaCgctcagctcccctcggcggg	8	17	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:27679694C>T	uc010rdu.1	-	2	1269	c.418G>A	c.(418-420)GTG>ATG	p.V140M	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.V140M|BDNF_uc001mrt.2_Missense_Mutation_p.V155M|BDNF_uc010rdw.1_Missense_Mutation_p.V140M|BDNF_uc009yjd.2_Missense_Mutation_p.V140M|BDNF_uc001mru.2_Missense_Mutation_p.V140M|BDNF_uc010rdx.1_Missense_Mutation_p.V140M|BDNF_uc010rdy.1_Missense_Mutation_p.V140M|BDNF_uc009yjg.2_Missense_Mutation_p.V140M|BDNF_uc009yje.2_Missense_Mutation_p.V222M|BDNF_uc009yjf.2_Missense_Mutation_p.V169M|BDNF_uc001mrv.2_Missense_Mutation_p.V140M|BDNF_uc001mrw.3_Missense_Mutation_p.V140M|BDNF_uc001mrx.2_Missense_Mutation_p.V140M|BDNF_uc001mry.3_Missense_Mutation_p.V140M|BDNF_uc001mrz.3_Missense_Mutation_p.V140M|BDNF_uc001msa.2_Missense_Mutation_p.V148M	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	140						extracellular region	growth factor activity				0						CTGTCACACACGCTCAGCTCC	0.542													T	27679694	C	T	27679694	3	4	172	1	0	0	0	0	1	0	0	0	1394	536	19	1	329	1	BDNF	11	27679694	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3160860	27679694	107326822	1067	94179											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:31812317delG	uc001mtd.3	-	11	2014	c.1124delC	c.(1123-1125)CCAfs	p.P375fs	PAX6_uc001mte.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.3_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.3_Frame_Shift_Del_p.P375fs|PAX6_uc009yjr.2_Frame_Shift_Del_p.P375fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				-	31812317	G	-	31812317	7	5	172	1	0	1	0	1	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	4132623	31812317	103194199	1068	94180											
CAT	847	broad.mit.edu	37	chr11	34470818	34470818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagtagggccccgtgggcCccttcttgttcaggatgtgg	14	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:34470818C>A	uc001mvm.2	+	2	229	c.146C>A	c.(145-147)CCC>CAC	p.P49H	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	49					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			ovary(2)|pancreas(1)	3		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)	CCCCGTGGGCCCCTTCTTGTT	0.468													A	34470818	C	A	34470818	3	1	172	1	0	0	0	0	1	0	0	0	2686	623	22	5	152	5	CAT	11	34470818	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2658501	34470818	100535698	1069	94181											
RAG2	5897	broad.mit.edu	37	chr11	36615184	36615184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaggaaaacacagggcaGgcagtcagctacactattcc	9	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:36615184G>T	uc001mwv.3	-	2	723	c.535C>A	c.(535-537)CTG>ATG	p.L179M	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	179					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			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				ACACAGGGCAGGCAGTCAGCT	0.453									Familial_Hemophagocytic_Lymphohistiocytosis				T	36615184	G	T	36615184	3	4	172	1	0	0	0	0	1	0	0	0	13005	991	35	5	1052	5	RAG2	11	36615184	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2144366	36615184	98391332	1070	94182											
CREB3L1	90993	broad.mit.edu	37	chr11	46338915	46338915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctttgctaccaggtgGcagccttgtgctttgttctg	10	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:46338915G>A	uc001ncf.2	+	10	1570	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	CREB3L1_uc001ncg.2_Missense_Mutation_p.A13T	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	379	Helical; Signal-anchor for type II membrane protein; (Potential).				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)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		CTACCAGGTGGCAGCCTTGTG	0.617			T	FUS	myxofibrosarcoma								A	46338915	G	A	46338915	3	1	172	1	0	0	0	0	1	0	0	0	3856	1203	42	2	1173	2	CREB3L1	11	46338915	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	9723731	46338915	88667601	1071	94183											
LRP4	4038	broad.mit.edu	37	chr11	46917831	46917831	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgttgcacagcttcctctgCccaatgcagcgcccattcca	7	18	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:46917831C>A	uc001ndn.3	-	9	1124	c.978G>T	c.(976-978)GGG>GGT	p.G326G		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	326	Extracellular (Potential).|LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GCTTCCTCTGCCCAATGCAGC	0.607													A	46917831	C	A	46917831	2	1	172	1	0	0	0	0	0	0	0	1	8959	726	26	5		5	LRP4	11	46917831	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	578916	46917831	88088685	1072	94184											
MYBPC3	4607	broad.mit.edu	37	chr11	47353733	47353733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaatctccagagtcaacActccctgcttgctgaacatg	6	13	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:47353733A>G	uc001nfa.3	-	32	3759	c.3704T>C	c.(3703-3705)GTG>GCG	p.V1235A		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1234	Ig-like C2-type 7.				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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CAGAGTCAACACTCCCTGCTT	0.557													G	47353733	A	G	47353733	3	3	172	1	0	0	0	0	1	0	0	0	10013	159	6	3	128	3	MYBPC3	11	47353733	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	435902	47353733	87652783	1073	94185											
FOLH1	2346	broad.mit.edu	37	chr11	49208219	49208219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcctctgaaaactttccCatatctggcaattacaattt	3	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:49208219C>T	uc001ngy.2	-	5	877	c.616G>A	c.(616-618)GGG>AGG	p.G206R	FOLH1_uc001ngz.2_Missense_Mutation_p.G206R|FOLH1_uc009yly.2_Missense_Mutation_p.G191R|FOLH1_uc009ylz.2_Missense_Mutation_p.G191R|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	206	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAAACTTTCCCATATCTGGCA	0.338													T	49208219	C	T	49208219	3	4	172	1	0	0	0	0	1	0	0	0	5979	594	21	4	1696	4	FOLH1	11	49208219	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1854486	49208219	85798297	1074	94186											
OR4S2	219431	broad.mit.edu	37	chr11	55418630	55418630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatgattgttgacctgtTagcaaaggacaaaaccatct	8	8	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:55418630T>C	uc001nhs.1	+	1	251	c.251T>C	c.(250-252)TTA>TCA	p.L84S		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				GTTGACCTGTTAGCAAAGGAC	0.418													C	55418630	T	C	55418630	3	2	172	1	0	0	0	0	1	0	0	0	11083	1764	61	3	253	3	OR4S2	11	55418630	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6210411	55418630	79587886	1075	94187											
OR5M9	390162	broad.mit.edu	37	chr11	56230509	56230509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagcagagggttgcagccGgccatgtacctgtcaaaggc	13	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:56230509G>A	uc010rjj.1	-	1	369	c.369C>T	c.(367-369)GCC>GCT	p.A123A		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					GGTTGCAGCCGGCCATGTACC	0.483													A	56230509	G	A	56230509	2	1	172	1	0	0	0	0	0	0	0	1	11177	1103	39	1		1	OR5M9	11	56230509	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	811879	56230509	78776007	1076	94188											
OR5M3	219482	broad.mit.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-													acaaccagcataagtaattgTttttttatctgataacaggt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:56237709delT	uc010rjk.1	-	1	265	c.265delA	c.(265-267)ACAfs	p.T89fs		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAAGTAATTGTTTTTTTATCT	0.363													-	56237709	T	-	56237709	7	5	172	1	0	1	0	1	0	0	0	0	11175	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	7200	56237709	78768807	1077	94189											
APLNR	187	broad.mit.edu	37	chr11	57003943	57003943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagtccatgtagcactgcAccttagtggtgttctccaag	10	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57003943A>G	uc001njo.2	-	1	985	c.536T>C	c.(535-537)GTG>GCG	p.V179A	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	179	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						GTAGCACTGCACCTTAGTGGT	0.637													G	57003943	A	G	57003943	3	3	172	1	0	0	0	0	1	0	0	0	777	159	6	3	610	3	APLNR	11	57003943	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	766234	57003943	78002573	1078	94190											
SMTNL1	219537	broad.mit.edu	37	chr11	57310315	57310316	+	Frame_Shift_Ins	INS	-	-	G													ggcatgtcagcagaactccaINSgggggaagcaaatggattag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57310315_57310316insG	uc009ymh.1	+	2	254_255	c.254_255insG	c.(253-255)CAGfs	p.Q85fs		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	67										ovary(1)	1						GCAGAACTCCAGGGGGAAGCAA	0.535													G	57310316	-	G	57310315	7	5	172	1	0	1	1	0	0	0	0	0	14815	188	7	0	260	0	SMTNL1	11	57310315	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	306372	57310315	77696201	1079	94191	463	2									
SMTNL1	219537	broad.mit.edu	37	chr11	57310316	57310317	+	Frame_Shift_Ins	INS	-	-	G													gcatgtcagcagaactccagINSggggaagcaaatggattaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57310315_57310316A>AG	uc021qjh.1	+	0	202_203	c.200_201A>AG	c.(199-201)cagfs	p.Q67fs		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	67								p.T66I(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCAGAACTCCAGGGGGAAGCAA	0.535													G	57310317	-	G	57310316	7	5	172	1	0	1	1	0	0	0	0	0	14815	991	35	0	261	0	SMTNL1	11	57310316	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	57310316	77696200	1080	94192	463	2									
OR10Q1	219960	broad.mit.edu	37	chr11	57995687	57995687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgaacacgtaggagaCgcagatgagcaggaagggga	18	5	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:57995687C>T	uc010rkd.1	-	1	661	c.661G>A	c.(661-663)GTC>ATC	p.V221I		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	221	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				ACGTAGGAGACGCAGATGAGC	0.642													T	57995687	C	T	57995687	3	4	172	1	0	0	0	0	1	0	0	0	10916	536	19	1	302	1	OR10Q1	11	57995687	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	685371	57995687	77010829	1081	94193											
OR5B3	441608	broad.mit.edu	37	chr11	58170465	58170466	+	Frame_Shift_Del	DEL	CA	CA	-													ggagcctatggccagacgagCacacacagttgttgtcatgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:58170465_58170466delCA	uc010rkf.1	-	1	417_418	c.417_418delTG	c.(415-420)TGTGCTfs	p.C139fs		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	139_140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCAGACGAGCACACACAGTTG	0.495													-	58170466	CA	-	58170465	7	5	172	1	0	1	0	1	0	0	0	0	11152	710	25	0	528	0	OR5B3	11	58170465	Frame_Shift_Del	DEL	CA	TCGA-CG-4442-01A-01D-1158-08	174778	58170465	76836051	1082	94194											
ZFP91	80829	broad.mit.edu	37	chr11	58377810	58377811	+	Splice_Site	INS	-	-	A													tctccaggtggcattaggtaINSaaaaaaacattaatatttca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:58377809_58377810T>TA	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	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)				TGGCATTAGGTAAAAAAAACAT	0.312													A	58377811	-	A	58377810	8	5	172	1	0	1	1	0	0	0	1	0	17652	377	13	0		0	ZFP91	11	58377810	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	207345	58377810	76628706	1083	94195											
CNTF	1270	broad.mit.edu	37	chr11	58391580	58391580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagtggcaagcactgatcAgtggagtgagctgaccgagg	16	9	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:58391580A>G	uc001nna.3	+	2	268	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	63					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGCACTGATCAGTGGAGTGAG	0.537													G	58391580	A	G	58391580	3	3	172	1	0	0	0	0	1	0	0	0	3637	188	7	3	194	3	CNTF	11	58391580	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	13770	58391580	76614936	1084	94196											
CD6	923	broad.mit.edu	37	chr11	60777101	60777101	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaggggcaggtggaggTacacttccgaggggtctgga	19	8	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:60777101T>A	uc001nqq.2	+	5	1062	c.839T>A	c.(838-840)GTA>GAA	p.V280E	CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Missense_Mutation_p.V280E|CD6_uc001nqr.2_Missense_Mutation_p.V280E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.V280E	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	280	SRCR 3.|Extracellular (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						CAGGTGGAGGTACACTTCCGA	0.627													A	60777101	T	A	60777101	3	1	172	1	0	0	0	0	1	0	0	0	3028	1638	57	5	857	5	CD6	11	60777101	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2385521	60777101	74229415	1085	94197											
CD5	921	broad.mit.edu	37	chr11	60885876	60885876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctcaatcatctgctaCggacaactgggctccttctc	8	14	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:60885876C>T	uc009ynk.2	+	3	427	c.324C>T	c.(322-324)TAC>TAT	p.Y108Y		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	108	Extracellular (Potential).|SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCATCTGCTACGGACAACTGG	0.562													T	60885876	C	T	60885876	2	4	172	1	0	0	0	0	0	0	0	1	3021	547	19	1		1	CD5	11	60885876	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	108775	60885876	74120640	1086	94198											
DAGLA	747	broad.mit.edu	37	chr11	61490373	61490373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgccatcgtgggcatcgTctggctcactcagtactaca	9	14	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:61490373T>C	uc001nsa.2	+	4	461	c.350T>C	c.(349-351)GTC>GCC	p.V117A		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	117	Helical; (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GTGGGCATCGTCTGGCTCACT	0.612													C	61490373	T	C	61490373	3	2	172	1	0	0	0	0	1	0	0	0	4226	1667	58	3	360	3	DAGLA	11	61490373	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	604497	61490373	73516143	1087	94199											
FADS2	9415	broad.mit.edu	37	chr11	61632650	61632650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccatgccccggcacaActtacacaagatcgccccgc	6	21	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:61632650A>G	uc001nsl.1	+	11	1334	c.1184A>G	c.(1183-1185)AAC>AGC	p.N395S	FADS2_uc001nsj.2_Missense_Mutation_p.N373S|FADS2_uc010rlo.1_Missense_Mutation_p.N364S	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	395	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	CCCCGGCACAACTTACACAAG	0.602													G	61632650	A	G	61632650	3	3	172	1	0	0	0	0	1	0	0	0	5366	43	2	3	1226	3	FADS2	11	61632650	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	142277	61632650	73373866	1088	94200											
INCENP	3619	broad.mit.edu	37	chr11	61908215	61908215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccgtgagtgagctggaCgaggagcagcacctggagga	18	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:61908215C>T	uc001nsw.1	+	9	1585	c.1383C>T	c.(1381-1383)GAC>GAT	p.D461D	INCENP_uc009ynw.1_Silent_p.D461D|INCENP_uc001nsx.1_Silent_p.D461D	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	461					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GTGAGCTGGACGAGGAGCAGC	0.687													T	61908215	C	T	61908215	2	4	172	1	0	0	0	0	0	0	0	1	7733	535	19	1		1	INCENP	11	61908215	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	275565	61908215	73098301	1089	94201											
AHNAK	79026	broad.mit.edu	37	chr11	62301479	62301479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtctccttccactccaTcttccgacttcagccgtggc	8	17	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:62301479T>C	uc001ntl.2	-	5	710	c.410A>G	c.(409-411)GAT>GGT	p.D137G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	137					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTCCACTCCATCTTCCGACTT	0.602													C	62301479	T	C	62301479	3	2	172	1	0	0	0	0	1	0	0	0	414	1435	50	3	17382	3	AHNAK	11	62301479	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	393264	62301479	72705037	1090	94202											
RARRES3	5920	broad.mit.edu	37	chr11	63312165	63312165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaggtgaaacgggagcGcctggaagatgtggtgggag	20	5	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:63312165G>A	uc001nxf.3	+	3	259	c.191G>A	c.(190-192)CGC>CAC	p.R64H		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	64					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						AAACGGGAGCGCCTGGAAGAT	0.582													A	63312165	G	A	63312165	3	1	172	1	0	0	0	0	1	0	0	0	13057	1087	38	1	201	1	RARRES3	11	63312165	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1010686	63312165	71694351	1091	94203											
GPR137	56834	broad.mit.edu	37	chr11	64055217	64055217	+	Frame_Shift_Del	DEL	G	G	-													gctgtccgaggggcctttgtGggggcctcgctgctctttct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:64055217delG	uc001nzg.1	+	4	740	c.432delG	c.(430-432)GTGfs	p.V144fs	GPR137_uc009ypj.1_Frame_Shift_Del_p.V150fs|GPR137_uc010rni.1_Frame_Shift_Del_p.V202fs|GPR137_uc001nze.1_Frame_Shift_Del_p.V144fs|GPR137_uc001nzf.2_Frame_Shift_Del_p.V144fs|GPR137_uc001nzh.1_Frame_Shift_Del_p.V144fs|GPR137_uc001nzi.2_Frame_Shift_Del_p.V144fs|GPR137_uc010rnj.1_Frame_Shift_Del_p.V144fs	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	144	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						GGGCCTTTGTGGGGGCCTCGC	0.677													-	64055217	G	-	64055217	7	5	172	1	0	1	0	1	0	0	0	0	6645	1335	47	0	624	0	GPR137	11	64055217	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	743052	64055217	70951299	1092	94204											
PYGM	5837	broad.mit.edu	37	chr11	64527327	64527327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccggccaggccacgcacaCtgatttgctttcttttctct	8	15	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:64527327C>T	uc001oax.3	-	1	861	c.44G>A	c.(43-45)AGT>AAT	p.S15N	PYGM_uc001oay.3_Missense_Mutation_p.S15N	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	15					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GCCACGCACACTGATTTGCTT	0.597													T	64527327	C	T	64527327	3	4	172	1	0	0	0	0	1	0	0	0	12862	565	20	4	2564	4	PYGM	11	64527327	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	472110	64527327	70479189	1093	94205											
CAPN1	823	broad.mit.edu	37	chr11	64972271	64972271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccttatgcagaagcaccGtcgccgcgagcgccgcttcg	12	17	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:64972271G>A	uc009yqd.1	+	11	1394	c.1283G>A	c.(1282-1284)CGT>CAT	p.R428H	CAPN1_uc001odf.1_Missense_Mutation_p.R428H|CAPN1_uc001odg.1_Missense_Mutation_p.R428H|CAPN1_uc010roa.1_Missense_Mutation_p.R169H	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	428	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CAGAAGCACCGTCGCCGCGAG	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	64972271	G	A	64972271	3	1	172	1	0	0	0	0	1	0	0	0	2622	1145	40	1	1321	1	CAPN1	11	64972271	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	444944	64972271	70034245	1094	94206											
FRMD8	83786	broad.mit.edu	37	chr11	65172535	65172535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaccatcgactacgtggaGgacggtgagcagcccttctg	12	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65172535G>T	uc001odu.3	+	10	1464	c.1272G>T	c.(1270-1272)GAG>GAT	p.E424D	FRMD8_uc009yqj.2_Missense_Mutation_p.E368D|FRMD8_uc010rof.1_Missense_Mutation_p.E390D	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	424						cytoskeleton	binding			lung(1)|pancreas(1)	2						ACTACGTGGAGGACGGTGAGC	0.632													T	65172535	G	T	65172535	3	4	172	1	0	0	0	0	1	0	0	0	6056	991	35	5	1306	5	FRMD8	11	65172535	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	200264	65172535	69833981	1095	94207											
SCYL1	57410	broad.mit.edu	37	chr11	65298114	65298114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagatcaaagagccagcCgagaagcaaaaattcttcca	7	13	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65298114C>T	uc001oea.1	+	7	941	c.864C>T	c.(862-864)GCC>GCT	p.A288A	SCYL1_uc009yqk.2_Silent_p.A288A|SCYL1_uc001oeb.1_Silent_p.A288A|SCYL1_uc001oec.1_Silent_p.A288A|SCYL1_uc001oed.1_Silent_p.A145A|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	288	Protein kinase.				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			skin(1)	1						AAGAGCCAGCCGAGAAGCAAA	0.582													T	65298114	C	T	65298114	2	4	172	1	0	0	0	0	0	0	0	1	13947	639	23	1		1	SCYL1	11	65298114	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	125579	65298114	69708402	1096	94208											
SART1	9092	broad.mit.edu	37	chr11	65729303	65729303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcggccgggacgacgGcggcggccggcaccgggggt	23	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65729303G>A	uc001ogl.2	+	1	144	c.52G>A	c.(52-54)GCG>ACG	p.A18T	SART1_uc009yqy.1_Missense_Mutation_p.A18T|SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	18					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				ovary(1)	1						cgggacgacggcggcggccgg	0.264													A	65729303	G	A	65729303	3	1	172	1	0	0	0	0	1	0	0	0	13846	1203	42	2	54	2	SART1	11	65729303	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	431189	65729303	69277213	1097	94209											
SART1	9092	broad.mit.edu	37	chr11	65746378	65746378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcggcagcggcaagagcAtgaacgcgtgagtggctcga	16	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65746378A>G	uc001ogl.2	+	19	2469	c.2377A>G	c.(2377-2379)ATG>GTG	p.M793V		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	793					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				ovary(1)	1						CGGCAAGAGCATGAACGCGTG	0.542													G	65746378	A	G	65746378	3	3	172	1	0	0	0	0	1	0	0	0	13846	217	8	3	2451	3	SART1	11	65746378	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	17075	65746378	69260138	1098	94210											
CATSPER1	117144	broad.mit.edu	37	chr11	65788382	65788382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttctggaagcgcttgggGtcagatttgcggaacagtgc	15	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:65788382G>A	uc001ogt.2	-	6	1965	c.1827C>T	c.(1825-1827)GAC>GAT	p.D609D		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	609	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						AGCGCTTGGGGTCAGATTTGC	0.602													A	65788382	G	A	65788382	2	1	172	1	0	0	0	0	0	0	0	1	2687	1252	44	4		4	CATSPER1	11	65788382	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	42004	65788382	69218134	1099	94211											
YIF1A	10897	broad.mit.edu	37	chr11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-													aggggcgttgaggtcttgccGggggggcagaggagcatcac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66055104_66055104CG>C	uc001ohk.4	-	3	574	c.392_392CG>G	c.(391-393)cggfs	p.R131fs	YIF1A_uc009yrc.3_Frame_Shift_Del_p.R96fs	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	131					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane		p.R131L(2)|p.P130P(1)|p.P130R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAG	0.622													-	66055105	G	-	66055105	7	5	172	1	0	1	0	1	0	0	0	0	17472	1115	39	0	510	0	YIF1A	11	66055105	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	266723	66055105	68951411	1100	94212											
SLC29A2	3177	broad.mit.edu	37	chr11	66136862	66136862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtacaggaaggagttgaGgagggtgaagagcagcaggg	20	4	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66136862G>T	uc001oht.2	-	3	482	c.253C>A	c.(253-255)CTC>ATC	p.L85I	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Missense_Mutation_p.L85I|SLC29A2_uc001ohv.2_Missense_Mutation_p.L85I|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	85	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						AAGGAGTTGAGGAGGGTGAAG	0.647													T	66136862	G	T	66136862	3	4	172	1	0	0	0	0	1	0	0	0	14535	1000	35	5	1157	5	SLC29A2	11	66136862	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	81757	66136862	68869654	1101	94213											
SPTBN2	6712	broad.mit.edu	37	chr11	66472378	66472378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatctcctcctccagggccCgatgctgcctggctagagcc	11	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66472378C>T	uc001ojd.2	-	14	2441	c.2369G>A	c.(2368-2370)CGG>CAG	p.R790Q		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	790	Spectrin 5.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CTCCAGGGCCCGATGCTGCCT	0.677													T	66472378	C	T	66472378	3	4	172	1	0	0	0	0	1	0	0	0	15119	652	23	1	4899	1	SPTBN2	11	66472378	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	335516	66472378	68534138	1102	94214											
C11orf80	79703	broad.mit.edu	37	chr11	66581352	66581352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacatatttctatatggacCtttgggtctgcctctgatat	7	9	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66581352C>A	uc001ojf.2	+	10	1062	c.1055C>A	c.(1054-1056)CCT>CAT	p.P352H	C11orf80_uc001ojg.2_Missense_Mutation_p.P119H|C11orf80_uc001ojh.2_Missense_Mutation_p.P120H|C11orf80_uc001oji.2_Missense_Mutation_p.P120H|C11orf80_uc010rpl.1_5'UTR|C11orf80_uc001ojj.2_5'UTR	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	197											0						CTATATGGACCTTTGGGTCTG	0.358													A	66581352	C	A	66581352	3	1	172	1	0	0	0	0	1	0	0	0	1664	681	24	5	1093	5	C11orf80	11	66581352	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	108974	66581352	68425164	1103	94215											
RHOD	29984	broad.mit.edu	37	chr11	66833381	66833381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagagctacacccccacGgtgtttgagcggtacatggt	11	13	1	2	rs147100013		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:66833381G>A	uc001ojv.2	+	2	232	c.147G>A	c.(145-147)ACG>ACA	p.T49T		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	49	Effector region (Potential).				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						ACACCCCCACGGTGTTTGAGC	0.627													A	66833381	G	A	66833381	2	1	172	1	0	0	0	0	0	0	0	1	13337	1103	39	1		1	RHOD	11	66833381	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	252029	66833381	68173135	1104	94216											
ADRBK1	156	broad.mit.edu	37	chr11	67046979	67046979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcatgaaggagctgctgGcctgctcgcatgtgagtgtc	13	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:67046979G>A	uc009yrn.1	+	4	621	c.355G>A	c.(355-357)GCC>ACC	p.A119T	ADRBK1_uc009yrm.1_Missense_Mutation_p.A119T	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	119	RGS.|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			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGAGCTGCTGGCCTGCTCGCA	0.592													A	67046979	G	A	67046979	3	1	172	1	0	0	0	0	1	0	0	0	343	1203	42	2	369	2	ADRBK1	11	67046979	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	213598	67046979	67959537	1105	94217											
TCIRG1	10312	broad.mit.edu	37	chr11	67816415	67816415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatgtccgtcatcctgGgcgtcgtgcacatggccttt	12	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:67816415G>A	uc001one.2	+	14	1732	c.1624G>A	c.(1624-1626)GGC>AGC	p.G542S	TCIRG1_uc001ong.2_Missense_Mutation_p.G326S|TCIRG1_uc001onh.2_Missense_Mutation_p.G244S|TCIRG1_uc001oni.2_Missense_Mutation_p.G46S|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	542	Helical; (Potential).				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			ovary(1)	1						CGTCATCCTGGGCGTCGTGCA	0.627													A	67816415	G	A	67816415	3	1	172	1	0	0	0	0	1	0	0	0	15700	1232	43	4	1674	4	TCIRG1	11	67816415	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	769436	67816415	67190101	1106	94218											
CPT1A	1374	broad.mit.edu	37	chr11	68548161	68548161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagtgttcagcgttgaGgcccatcttcccgtttttga	11	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:68548161G>T	uc001oog.3	-	12	1575	c.1405C>A	c.(1405-1407)CTC>ATC	p.L469I	CPT1A_uc001oof.3_Missense_Mutation_p.L469I|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	469	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TCAGCGTTGAGGCCCATCTTC	0.463													T	68548161	G	T	68548161	3	4	172	1	0	0	0	0	1	0	0	0	3831	1000	35	5	988	5	CPT1A	11	68548161	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	731746	68548161	66458355	1107	94219											
ANO1	55107	broad.mit.edu	37	chr11	69957855	69957855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgtacgcggctgcatAcccactgcacgatgtaagta	12	10	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:69957855A>G	uc001opj.2	+	7	1147	c.842A>G	c.(841-843)TAC>TGC	p.Y281C	ANO1_uc001opk.1_Missense_Mutation_p.Y253C|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.Y16C	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	281	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GCGGCTGCATACCCACTGCAC	0.562													G	69957855	A	G	69957855	3	3	172	1	0	0	0	0	1	0	0	0	695	391	14	3	868	3	ANO1	11	69957855	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1409694	69957855	65048661	1108	94220											
ANO1	55107	broad.mit.edu	37	chr11	70028653	70028653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcatcccgcgcctggtgTacctctacatgtacagtaag	8	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:70028653T>C	uc001opj.2	+	24	2754	c.2449T>C	c.(2449-2451)TAC>CAC	p.Y817H	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.Y526H|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	817	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GCGCCTGGTGTACCTCTACAT	0.612													C	70028653	T	C	70028653	3	2	172	1	0	0	0	0	1	0	0	0	695	1638	57	3	2543	3	ANO1	11	70028653	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	70798	70028653	64977863	1109	94221											
NADSYN1	55191	broad.mit.edu	37	chr11	71192975	71192975	+	Frame_Shift_Del	DEL	T	T	-													ttggtccattccaggcagggTttttgctgcccttgagtggc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71192975delT	uc001oqn.2	+	13	1180	c.1054delT	c.(1054-1056)TTTfs	p.F352fs	NADSYN1_uc001oqo.2_Frame_Shift_Del_p.F92fs|NADSYN1_uc001oqp.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	352	Ligase (By similarity).				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			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGGCAGGGTTTTTGCTGCC	0.612													-	71192975	T	-	71192975	7	5	172	1	0	1	0	1	0	0	0	0	10138	1725	60	0	1104	0	NADSYN1	11	71192975	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1164322	71192975	63813541	1110	94222											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249264	71249264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgtggctcctgtgggGgctccaaggggggccgtggc	19	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71249264G>T	uc001oqr.1	+	1	194	c.163G>T	c.(163-165)GGC>TGC	p.G55C		NM_021046	NP_066384	O75690	KRA58_HUMAN	keratin associated protein 5-8	55	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis				0						CTCCTGTGGGGGCTCCAAGGG	0.667													T	71249264	G	T	71249264	3	4	172	1	0	0	0	0	1	0	0	0	8567	1232	43	5	165	5	KRTAP5-8	11	71249264	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	56289	71249264	63757252	1111	94223											
FOLR2	2350	broad.mit.edu	37	chr11	71932561	71932561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgcacctttgagtccTacttccccactccagctgcc	6	19	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71932561T>G	uc009ytd.2	+	5	692	c.523T>G	c.(523-525)TAC>GAC	p.Y175D	FOLR2_uc009yte.2_Missense_Mutation_p.Y175D|FOLR2_uc001ose.3_Missense_Mutation_p.Y175D|FOLR2_uc009ytf.2_Missense_Mutation_p.Y175D	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN	folate receptor 2 precursor	175					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)	CTTTGAGTCCTACTTCCCCAC	0.592													G	71932561	T	G	71932561	3	3	172	1	0	0	0	0	1	0	0	0	5982	1522	53	5	537	5	FOLR2	11	71932561	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	683297	71932561	63073955	1112	94224											
INPPL1	3636	broad.mit.edu	37	chr11	71948209	71948209	+	Frame_Shift_Del	DEL	C	C	-													tgaaccagaaggggtggcggCccccccacccaagaacagct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:71948208_71948208GC>G	uc001osf.3	+	25	3067	c.2920_2920GC>G	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACC	0.632													-	71948209	C	-	71948209	7	5	172	1	0	1	0	1	0	0	0	0	7761	739	26	0	3023	0	INPPL1	11	71948209	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	15648	71948209	63058307	1113	94225											
ARAP1	116985	broad.mit.edu	37	chr11	72424265	72424265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccggcccctcctctgGgacctcatcgtagtcagagt	11	17	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:72424265G>A	uc001osu.2	-	5	892	c.703C>T	c.(703-705)CCA>TCA	p.P235S	ARAP1_uc001osv.2_Missense_Mutation_p.P235S|ARAP1_uc001osr.2_5'UTR|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	235					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			skin(1)	1						CCCTCCTCTGGGACCTCATCG	0.662													A	72424265	G	A	72424265	3	1	172	1	0	0	0	0	1	0	0	0	838	1232	43	4	3773	4	ARAP1	11	72424265	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	476056	72424265	62582251	1114	94226											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021527	73021527	+	Frame_Shift_Del	DEL	C	C	-													acaagatgatggaagcgatgCcccccctggaagccctgact							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:73021526_73021526GC>G	uc001otu.3	+	0	1864	c.1843_1843GC>G	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					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						TGGAAGCGATGCCCCCCCTGG	0.617													-	73021527	C	-	73021527	7	5	172	1	0	1	0	1	0	0	0	0	900	739	26	0	1846	0	ARHGEF17	11	73021527	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	597262	73021527	61984989	1115	94227											
C2CD3	26005	broad.mit.edu	37	chr11	73820094	73820094	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacctttttctgtggagtTttctttacataaatttggaa	7	5	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:73820094T>C	uc001ouu.2	-	12	2174	c.1947A>G	c.(1945-1947)AAA>AAG	p.K649K		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	649						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TCTGTGGAGTTTTCTTTACAT	0.398													C	73820094	T	C	73820094	2	2	172	1	0	0	0	0	0	0	0	1	2154	1838	64	3		3	C2CD3	11	73820094	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	798567	73820094	61186422	1116	94228											
C2CD3	26005	broad.mit.edu	37	chr11	73820180	73820180	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtactggaaacacaaatcGctgctggaacttcacctctg	8	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:73820180G>A	uc001ouu.2	-	12	2088	c.1861C>T	c.(1861-1863)CGA>TGA	p.R621*		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	621						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					AACACAAATCGCTGCTGGAAC	0.443													A	73820180	G	A	73820180	4	1	172	1	0	0	0	0	0	1	0	0	2154	1095	38	1	4110	1	C2CD3	11	73820180	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	86	73820180	61186336	1117	94229											
RSF1	51773	broad.mit.edu	37	chr11	77413116	77413116	+	Frame_Shift_Del	DEL	T	T	-													tcactcagtttaatttctcgTttttttagtggtatcttggc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:77413116delT	uc001oyn.2	-	6	1278	c.1158delA	c.(1156-1158)AAAfs	p.K386fs	RSF1_uc001oym.2_Frame_Shift_Del_p.K134fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	386					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			ovary(2)|central_nervous_system(2)	4	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)			TAATTTCTCGTTTTTTTAGTG	0.338													-	77413116	T	-	77413116	7	5	172	1	0	1	0	1	0	0	0	0	13699	1722	60	0	3211	0	RSF1	11	77413116	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	3592936	77413116	57593400	1118	94230											
INTS4	92105	broad.mit.edu	37	chr11	77667073	77667073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacgcatcatcaactaagCgtatttcttcattagaagaa	5	9	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:77667073C>T	uc001oys.2	-	8	861	c.833G>A	c.(832-834)CGC>CAC	p.R278H	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.R278H	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	278	HEAT 5.				snRNA processing	integrator complex	protein binding			ovary(2)	2	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)			ATCAACTAAGCGTATTTCTTC	0.373													T	77667073	C	T	77667073	3	4	172	1	0	0	0	0	1	0	0	0	7780	768	27	1	2122	1	INTS4	11	77667073	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	253957	77667073	57339443	1119	94231											
ODZ4	26011	broad.mit.edu	37	chr11	78369281	78369281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggccttcctccccttccCgcagtctctgctgctcgcgg	10	19	1	0	rs148029717	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:78369281C>T	uc001ozl.3	-	34	8595	c.8132G>A	c.(8131-8133)CGG>CAG	p.R2711Q	ODZ4_uc001ozk.3_Missense_Mutation_p.R936Q|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2711	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CTCCCCTTCCCGCAGTCTCTG	0.667													T	78369281	C	T	78369281	3	4	172	1	0	0	0	0	1	0	0	0	10837	652	23	1	181	1	ODZ4	11	78369281	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	702208	78369281	56637235	1120	94232											
GRM5	2915	broad.mit.edu	37	chr11	88241901	88241901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagtctctgaagggggaCggcggggtgagagccaccag	18	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:88241901C>T	uc001pcq.2	-	9	3698	c.3498G>A	c.(3496-3498)CCG>CCA	p.P1166P	GRM5_uc009yvm.2_Silent_p.P1134P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	1166	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGAAGGGGGACGGCGGGGTGA	0.706													T	88241901	C	T	88241901	2	4	172	1	0	0	0	0	0	0	0	1	6800	523	19	1		1	GRM5	11	88241901	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9872620	88241901	46764615	1121	94233											
GRM5	2915	broad.mit.edu	37	chr11	88300530	88300530	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtacattgtgaaggcgAtatacttggcctcgttgaag	12	7	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:88300530A>T	uc001pcq.2	-	7	2521	c.2321T>A	c.(2320-2322)ATC>AAC	p.I774N	GRM5_uc009yvm.2_Missense_Mutation_p.I774N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	774	Helical; Name=6; (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGTGAAGGCGATATACTTGGC	0.438													T	88300530	A	T	88300530	3	4	172	1	0	0	0	0	1	0	0	0	6800	333	12	5	1329	5	GRM5	11	88300530	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	58629	88300530	46705986	1122	94234											
FAT3	120114	broad.mit.edu	37	chr11	92258089	92258090	+	Frame_Shift_Ins	INS	-	-	T													caagtggaaatcctcagaatINSttttttgccatcaatatcaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:92258088_92258089A>AT	uc001pdj.4	+	1	3598_3599	c.3581_3582A>AT	c.(3580-3582)aatfs	p.N1194fs		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1194	Cadherin 11.				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)				AATCCTCAGAATTTTTTTGCCA	0.381										TCGA Ovarian(4;0.039)			T	92258090	-	T	92258089	7	5	172	1	0	1	1	0	0	0	0	0	5691	1490	52	0	3588	0	FAT3	11	92258089	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	3957559	92258089	42748427	1123	94235											
FAT3	120114	broad.mit.edu	37	chr11	92534857	92534857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacattcaccttctctgTggtggcctctgaccttggag	9	15	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:92534857T>C	uc001pdj.3	+	9	8695	c.8678T>C	c.(8677-8679)GTG>GCG	p.V2893A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2893	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCTTCTCTGTGGTGGCCTCT	0.498										TCGA Ovarian(4;0.039)			C	92534857	T	C	92534857	3	2	172	1	0	0	0	0	1	0	0	0	5691	1696	59	3	8712	3	FAT3	11	92534857	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	276768	92534857	42471659	1124	94236											
MED17	9440	broad.mit.edu	37	chr11	93529642	93529642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaaaatttgctactgAgaagcaatgtccggaggacc	9	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:93529642A>G	uc001pem.3	+	7	1354	c.1079A>G	c.(1078-1080)GAG>GGG	p.E360G		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	360					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			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGCTACTGAGAAGCAATGT	0.358													G	93529642	A	G	93529642	3	3	172	1	0	0	0	0	1	0	0	0	9435	304	11	3	1105	3	MED17	11	93529642	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	994785	93529642	41476874	1125	94237											
MRE11A	4361	broad.mit.edu	37	chr11	94224123	94224123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatattttaaatgtgtttTcatcatcactatattaagaa	3	5	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:94224123T>C	uc001peu.2	-	3	218	c.29A>G	c.(28-30)GAA>GGA	p.E10G	MRE11A_uc001pev.2_Missense_Mutation_p.E10G|MRE11A_uc009ywj.2_Missense_Mutation_p.E13G	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	10					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(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AAATGTGTTTTCATCATCACT	0.244								Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				C	94224123	T	C	94224123	3	2	172	1	0	0	0	0	1	0	0	0	9759	1783	62	3	2169	3	MRE11A	11	94224123	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	694481	94224123	40782393	1126	94238											
SESN3	143686	broad.mit.edu	37	chr11	94910901	94910901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgattccaaacatacagTgaacatagttaaataaagct	5	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:94910901T>C	uc001pfk.1	-	8	1451	c.1229A>G	c.(1228-1230)CAC>CGC	p.H410R	SESN3_uc010rug.1_Missense_Mutation_p.H271R	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	410					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		AAACATACAGTGAACATAGTT	0.373													C	94910901	T	C	94910901	3	2	172	1	0	0	0	0	1	0	0	0	14126	1696	59	3	261	3	SESN3	11	94910901	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	686778	94910901	40095615	1127	94239											
PGR	5241	broad.mit.edu	37	chr11	100962610	100962610	+	Splice_Site	DEL	A	A	-													ataagtagttgtgctgccctAaaaaaacaaaatgagtcaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:100962609_100962609TA>T	uc001pgh.2	-	3	2533	c.1790_splice	c.e3-1	p.G597_splice	PGR_uc001pgi.2_Splice_Site_p.G597_splice|PGR_uc009yww.1_Splice_Site|PGR_uc001pgj.2_Splice_Site|PGR_uc009ywx.1_Intron	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	597					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)	TGTGCTGCCCTAAAAAAACAA	0.378													-	100962610	A	-	100962610	8	5	172	1	0	1	0	1	0	0	1	0	11805	377	13	0		0	PGR	11	100962610	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	6051709	100962610	34043906	1128	94240											
MMP8	4317	broad.mit.edu	37	chr11	102593239	102593239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtcaggcactccacagcGaggctttttcatcatgtcca	8	13	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:102593239G>A	uc001phe.2	-	2	367	c.268C>T	c.(268-270)CGC>TGC	p.R90C	MMP8_uc010rut.1_Missense_Mutation_p.R25C|MMP8_uc010ruu.1_Missense_Mutation_p.R67C	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	90	Cysteine switch (By similarity).				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	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)		ACTCCACAGCGAGGCTTTTTC	0.453													A	102593239	G	A	102593239	3	1	172	1	0	0	0	0	1	0	0	0	9668	1058	37	1	1171	1	MMP8	11	102593239	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1630629	102593239	32413277	1129	94241											
DYNC2H1	79659	broad.mit.edu	37	chr11	102984302	102984302	+	Frame_Shift_Del	DEL	T	T	-													caaaagataaagtgctggtgTttttcaagctgcgacctgaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:102984301_102984301GT>G	uc001phn.1	+	1	375	c.231_231GT>G	c.(229-231)gtgfs	p.V77fs	DYNC2H1_uc009yxe.1_Frame_Shift_Del_p.V77fs|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.V77fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	77	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|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)		AAGTGCTGGTGTTTTTCAAGC	0.294													-	102984302	T	-	102984302	7	5	172	1	0	1	0	1	0	0	0	0	4846	1725	60	0	238	0	DYNC2H1	11	102984302	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	391063	102984302	32022214	1130	94242											
KIAA1826	84437	broad.mit.edu	37	chr11	105881471	105881471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctgttctccttctccTacagcattcacacactgtgc	5	16	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:105881471T>C	uc001piy.2	-	2	347	c.174A>G	c.(172-174)GTA>GTG	p.V58V	KIAA1826_uc001piz.2_Silent_p.V58V	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	58						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CTCCTTCTCCTACAGCATTCA	0.443													C	105881471	T	C	105881471	2	2	172	1	0	0	0	0	0	0	0	1	8260	1509	53	3		3	KIAA1826	11	105881471	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2897169	105881471	29125045	1131	94243											
DDX10	1662	broad.mit.edu	37	chr11	108593810	108593810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaattggtaaggagccaagCcgataaagtaattgagccaa	11	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:108593810C>T	uc001pkm.2	+	13	1651	c.1586C>T	c.(1585-1587)GCC>GTC	p.A529V	DDX10_uc001pkl.1_Missense_Mutation_p.A529V	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	529							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		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)		AGGAGCCAAGCCGATAAAGTA	0.433			T	NUP98	AML*								T	108593810	C	T	108593810	3	4	172	1	0	0	0	0	1	0	0	0	4342	739	26	2	1636	2	DDX10	11	108593810	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2712339	108593810	26412706	1132	94244											
C11orf52	91894	broad.mit.edu	37	chr11	111796699	111796699	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcagggccatgaaacaacaGgacatacgtatgaacgggtg	13	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:111796699G>T	uc001pmh.2	+	5	631	c.148G>T	c.(148-150)GGA>TGA	p.G50*	C11orf52_uc001pmi.2_Nonsense_Mutation_p.G50*	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	50										ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TGAAACAACAGGACATACGTA	0.502													T	111796699	G	T	111796699	4	4	172	1	0	0	0	0	0	1	0	0	1647	1001	35	5	162	5	C11orf52	11	111796699	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3202889	111796699	23209817	1133	94245											
FAM55D	54827	broad.mit.edu	37	chr11	114453454	114453454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgccatattgcttcctgCgtcccaagtggtccctcacc	7	19	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:114453454C>A	uc001ppc.2	-	3	567	c.386G>T	c.(385-387)CGC>CTC	p.R129L	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	129						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TTGCTTCCTGCGTCCCAAGTG	0.587													A	114453454	C	A	114453454	3	1	172	1	0	0	0	0	1	0	0	0	5587	768	27	5	1264	5	FAM55D	11	114453454	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2656755	114453454	20553062	1134	94246											
APOA5	116519	broad.mit.edu	37	chr11	116660973	116660973	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttgttgaaactctggggcGaaggcactgtggcctggtgg	17	7	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:116660973G>A	uc001ppr.2	-	3	980	c.972C>T	c.(970-972)TTC>TTT	p.F324F	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.F324F|APOA5_uc009yzf.2_Silent_p.F324F|APOA5_uc009yzg.2_Silent_p.F350F	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	324					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		ACTCTGGGGCGAAGGCACTGT	0.592													A	116660973	G	A	116660973	2	1	172	1	0	0	0	0	0	0	0	1	784	1049	37	1		1	APOA5	11	116660973	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2207519	116660973	18345543	1135	94247											
SIK3	23387	broad.mit.edu	37	chr11	116767059	116767059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcaaatggcagggcacCgcacacaagcacgtagagga	11	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:116767059C>T	uc001ppy.2	-	6	637	c.601G>A	c.(601-603)GGT>AGT	p.G201S	SIK3_uc001ppz.2_Missense_Mutation_p.G100S|SIK3_uc001pqa.2_Missense_Mutation_p.G201S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	201	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GGCAGGGCACCGCACACAAGC	0.498													T	116767059	C	T	116767059	3	4	172	1	0	0	0	0	1	0	0	0	14319	652	23	1	3262	1	SIK3	11	116767059	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	106086	116767059	18239457	1136	94248											
DSCAML1	57453	broad.mit.edu	37	chr11	117303920	117303920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgtcaatgtgtagccGtgggccctggggtggccctt	18	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:117303920G>A	uc001prh.1	-	29	5142	c.5140C>T	c.(5140-5142)CGG>TGG	p.R1714W		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1654	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		ATGTGTAGCCGTGGGCCCTGG	0.567													A	117303920	G	A	117303920	3	1	172	1	0	0	0	0	1	0	0	0	4769	1144	40	1	1221	1	DSCAML1	11	117303920	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	536861	117303920	17702596	1137	94249											
UBE4A	9354	broad.mit.edu	37	chr11	118255401	118255401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccgccgtcccatgtatcCtatcctaagatacatgtggg	8	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118255401C>A	uc001psw.2	+	14	2378	c.2249C>A	c.(2248-2250)CCT>CAT	p.P750H	UBE4A_uc001psv.2_Missense_Mutation_p.P757H	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	750					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		CCCATGTATCCTATCCTAAGA	0.443													A	118255401	C	A	118255401	3	1	172	1	0	0	0	0	1	0	0	0	16879	681	24	5	2320	5	UBE4A	11	118255401	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	951481	118255401	16751115	1138	94250											
MLL	4297	broad.mit.edu	37	chr11	118363823	118363823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggagagtataccttccCgcagctcccccgaaggacct	10	15	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118363823C>T	uc001pta.2	+	16	5070	c.5047C>T	c.(5047-5049)CGC>TGC	p.R1683C	MLL_uc001ptb.2_Missense_Mutation_p.R1686C	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1683					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TATACCTTCCCGCAGCTCCCC	0.478			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118363823	C	T	118363823	3	4	172	1	0	0	0	0	1	0	0	0	9620	652	23	1	5109	1	MLL	11	118363823	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	108422	118363823	16642693	1139	94251											
ARCN1	372	broad.mit.edu	37	chr11	118463520	118463520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaacagtgacgtagggGtgctaaagtggagactacaa	13	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118463520G>A	uc001ptq.2	+	7	1242	c.1081G>A	c.(1081-1083)GTG>ATG	p.V361M	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.V273M|ARCN1_uc009zag.2_Missense_Mutation_p.V402M	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	361	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	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)		TGACGTAGGGGTGCTAAAGTG	0.438													A	118463520	G	A	118463520	3	1	172	1	0	0	0	0	1	0	0	0	842	1261	44	4	1107	4	ARCN1	11	118463520	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	99697	118463520	16542996	1140	94252											
DDX6	1656	broad.mit.edu	37	chr11	118629513	118629513	+	Frame_Shift_Del	DEL	T	T	-													agtgtgttgaggcagtgtacTttttggcgctcagttacata							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118629513delT	uc001pub.2	-	9	1324	c.963delA	c.(961-963)AAAfs	p.K321fs	DDX6_uc001pua.2_Frame_Shift_Del_p.K21fs|DDX6_uc001puc.2_Frame_Shift_Del_p.K321fs	NM_004397	NP_004388	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	321	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGCAGTGTACTTTTTGGCGCT	0.413			T	IGH@	B-NHL								-	118629513	T	-	118629513	7	5	172	1	0	1	0	1	0	0	0	0	4377	1606	56	0	508	0	DDX6	11	118629513	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	165993	118629513	16377003	1141	94253											
BCL9L	283149	broad.mit.edu	37	chr11	118770652	118770653	+	Frame_Shift_Ins	INS	-	-	G													ggagccctgcggtggtggtgINSgggggggcagcaggggccgg					rs139987150		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118770651_118770652T>TG	uc001pug.3	-	6	4345_4346	c.3380_3381A>CA	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	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)		GCGGTGGTGGTGGGGGGGGCAG	0.703													G	118770653	-	G	118770652	7	5	172	1	0	1	1	0	0	0	0	0	1382	1348	47	0	1127	0	BCL9L	11	118770652	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	141139	118770652	16235864	1142	94254											
BCL9L	283149	broad.mit.edu	37	chr11	118770759	118770759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcatggcgtacttggaCatctgggtcatcatcagtga	13	9	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:118770759C>T	uc001pug.2	-	7	4238	c.3273G>A	c.(3271-3273)ATG>ATA	p.M1091I	BCL9L_uc009zal.2_Missense_Mutation_p.M1086I	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1091	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			ovary(1)|pancreas(1)	2	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)		CGTACTTGGACATCTGGGTCA	0.627													T	118770759	C	T	118770759	3	4	172	1	0	0	0	0	1	0	0	0	1382	478	17	4	1234	4	BCL9L	11	118770759	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	107	118770759	16235757	1143	94255											
ABCG4	64137	broad.mit.edu	37	chr11	119025010	119025010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcctggttaatggaaggCcacgggagctgaggaccttc	14	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:119025010C>T	uc001pvs.2	+	4	733	c.397C>T	c.(397-399)CCA>TCA	p.P133S	ABCG4_uc009zar.2_Missense_Mutation_p.P133S	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	133	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	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)		TAATGGAAGGCCACGGGAGCT	0.557													T	119025010	C	T	119025010	3	4	172	1	0	0	0	0	1	0	0	0	70	739	26	2	407	2	ABCG4	11	119025010	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	254251	119025010	15981506	1144	94256											
CCDC153	283152	broad.mit.edu	37	chr11	119061043	119061044	+	Frame_Shift_Ins	INS	-	-	G													tggtggcctcaaagatccagINSggggggtgagtccaaactgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:119061042_119061043A>AG	uc010rze.2	-	6	813_814	c.599_600T>CT	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													G	119061044	-	G	119061043	7	5	172	1	0	1	1	0	0	0	0	0	2787	1000	35	0	37	0	CCDC153	11	119061043	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	36033	119061043	15945473	1145	94257											
TBCEL	219899	broad.mit.edu	37	chr11	120930796	120930797	+	Splice_Site	INS	-	-	A													ggaagaagtgccattcaggtINSaaaaaattccccattggcca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:120930796_120930797insA	uc009zay.2	+	7	1034	c.956_splice	c.e7+2	p.R319_splice	TBCEL_uc001pxo.2_Splice_Site_p.R319_splice|TBCEL_uc001pxp.2_Splice_Site_p.R175_splice|TBCEL_uc001pxq.2_Splice_Site	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like							cytoplasm|cytoskeleton				skin(1)	1		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)		GCCATTCAGGTAAAAAATTCCC	0.391													A	120930797	-	A	120930796	8	5	172	1	0	1	1	0	0	0	1	0	15632	1652	57	0	980	0	TBCEL	11	120930796	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	1869753	120930796	14075720	1146	94258	464	2									
TBCEL	219899	broad.mit.edu	37	chr11	120930797	120930798	+	Splice_Site	INS	-	-	A													gaagaagtgccattcaggtaINSaaaaattccccattggccaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:120930796_120930797T>TA	uc001pxo.3	+	7	1161	c.956_splice	c.e7+2	p.R319_splice	TBCEL_uc009zay.3_Splice_Site_p.R319_splice|TBCEL_uc001pxp.3_Splice_Site_p.R175_splice|TBCEL_uc001pxq.3_Splice_Site	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	319						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)		GCCATTCAGGTAAAAAATTCCC	0.391													A	120930798	-	A	120930797	8	5	172	1	0	1	1	0	0	0	1	0	15632	377	13	0		0	TBCEL	11	120930797	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	120930797	14075719	1147	94259	464	2									
PUS3	83480	broad.mit.edu	37	chr11	125765567	125765567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgtctggagggagtacccGattgagaatgtgggtataac	15	5	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:125765567G>A	uc001qcy.2	-	3	594	c.496C>T	c.(496-498)CGG>TGG	p.R166W	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	166						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGGAGTACCCGATTGAGAATG	0.502													A	125765567	G	A	125765567	3	1	172	1	0	0	0	0	1	0	0	0	12832	1057	37	1	957	1	PUS3	11	125765567	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4834770	125765567	9240949	1148	94260											
RPUSD4	84881	broad.mit.edu	37	chr11	126081486	126081486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcccgcaaccttggccGtttccccggatccaggggcc	11	17	0	1	rs141244684	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:126081486G>A	uc001qde.2	-	1	102	c.48C>T	c.(46-48)AAC>AAT	p.N16N	FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Silent_p.N16N|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	16					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		AACCTTGGCCGTTTCCCCGGA	0.622													A	126081486	G	A	126081486	2	1	172	1	0	0	0	0	0	0	0	1	13669	1136	40	1		1	RPUSD4	11	126081486	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	315919	126081486	8925030	1149	94261											
SRPR	6734	broad.mit.edu	37	chr11	126136516	126136516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttggagcatctgacttcGtggacttgctgcaacaggtt	11	10	1	1	rs148507841		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:126136516G>A	uc001qdh.2	-	6	746	c.695C>T	c.(694-696)ACG>ATG	p.T232M	SRPR_uc010sbm.1_Missense_Mutation_p.T204M|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	232					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ATCTGACTTCGTGGACTTGCT	0.493													A	126136516	G	A	126136516	3	1	172	1	0	0	0	0	1	0	0	0	15161	1145	40	1	1257	1	SRPR	11	126136516	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	55030	126136516	8870000	1150	94262											
FLI1	2313	broad.mit.edu	37	chr11	128564097	128564097	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggggctgcgaggtcaGgctgtaaccgggtcaatgtg	17	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:128564097G>T	uc010sbu.1	+	1	285	c.-56G>T	c.(-58--54)CAGGC>CATGC		FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Translation_Start_Site|FLI1_uc009zci.2_Translation_Start_Site|uc001qel.2_Intron	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	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)		TGCGAGGTCAGGCTGTAACCG	0.682			T	EWSR1	Ewing sarcoma								T	128564097	G	T	128564097	1	4	172	1	0	0	0	0	0	0	0	0	5924	1015	35	5		5	FLI1	11	128564097	Translation_Start_Site	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2427581	128564097	6442419	1151	94263											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844793	128844793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgtcatgaggcagatTatcataggagttacagcggt	11	7	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:128844793T>C	uc009zcp.2	-	20	2257	c.2257A>G	c.(2257-2259)AAT>GAT	p.N753D	ARHGAP32_uc009zcq.1_Missense_Mutation_p.N713D|ARHGAP32_uc009zco.2_Translation_Start_Site|ARHGAP32_uc001qez.2_Missense_Mutation_p.N404D	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	753					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			lung(3)|ovary(2)	5						TGAGGCAGATTATCATAGGAG	0.498													C	128844793	T	C	128844793	3	2	172	1	0	0	0	0	1	0	0	0	881	1754	61	3	4018	3	ARHGAP32	11	128844793	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	280696	128844793	6161723	1152	94264											
PRDM10	56980	broad.mit.edu	37	chr11	129775589	129775589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgccacaccactgtctgTaatcacaaactgacccggag	8	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr11:129775589T>C	uc001qfm.2	-	21	3455	c.3223A>G	c.(3223-3225)ACA>GCA	p.T1075A	PRDM10_uc001qfj.2_Missense_Mutation_p.T976A|PRDM10_uc001qfk.2_Missense_Mutation_p.T938A|PRDM10_uc001qfl.2_Missense_Mutation_p.T989A|PRDM10_uc010sbx.1_Missense_Mutation_p.T985A|PRDM10_uc001qfn.2_Missense_Mutation_p.T1071A	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	1062					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		CCACTGTCTGTAATCACAAAC	0.463													C	129775589	T	C	129775589	3	2	172	1	0	0	0	0	1	0	0	0	12451	1638	57	3	267	3	PRDM10	11	129775589	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	930796	129775589	5230927	1153	94265											
SLC6A13	6540	broad.mit.edu	37	chr12	333237	333237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctccggttcttcttgCggaacacgtgagggtacatg	11	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:333237C>T	uc001qic.1	-	11	1285	c.1232G>A	c.(1231-1233)CGC>CAC	p.R411H	SLC6A13_uc009zdj.1_Missense_Mutation_p.R401H|SLC6A13_uc010sdl.1_Missense_Mutation_p.R319H	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	411					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	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)			GTTCTTCTTGCGGAACACGTG	0.572													T	333237	C	T	333237	3	4	172	1	0	0	0	0	1	0	0	0	14676	768	27	1	596	1	SLC6A13	12	333237	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08		333237	133518658	1154	94266											
KDM5A	5927	broad.mit.edu	37	chr12	442691	442691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcacgttggggttcatgaTggtaactaactgatgcagaa	12	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:442691T>C	uc001qif.1	-	12	1978	c.1615A>G	c.(1615-1617)ATC>GTC	p.I539V	KDM5A_uc001qie.1_Missense_Mutation_p.I539V|KDM5A_uc010sdn.1_Missense_Mutation_p.I498V|KDM5A_uc010sdo.1_Missense_Mutation_p.I158V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	539	JmjC.				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			skin(2)|ovary(1)	3						GGGTTCATGATGGTAACTAAC	0.418			T 	NUP98	AML								C	442691	T	C	442691	3	2	172	1	0	0	0	0	1	0	0	0	8133	1464	51	3	3525	3	KDM5A	12	442691	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	109454	442691	133409204	1155	94267											
RAD52	5893	broad.mit.edu	37	chr12	1036391	1036391	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttggacttgaggccctcActaacaccataaccaacatc	6	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:1036391A>G	uc001qis.1	-	6	501	c.387T>C	c.(385-387)AGT>AGC	p.S129S	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.S52S|RAD52_uc001qiu.1_Silent_p.S129S|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.S129S|RAD52_uc001qix.1_Silent_p.S129S	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	129					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	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)			TGAGGCCCTCACTAACACCAT	0.557								Homologous_recombination					G	1036391	A	G	1036391	2	3	172	1	0	0	0	0	0	0	0	1	12991	156	6	3		3	RAD52	12	1036391	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	593700	1036391	132815504	1156	94268											
CACNA1C	775	broad.mit.edu	37	chr12	2692102	2692102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcctcttcatctgtGgaaactgtatcctttgctgc	6	12	5	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2692102G>A	uc009zdu.1	+	15	2531	c.2218G>A	c.(2218-2220)GGA>AGA	p.G740R	CACNA1C_uc009zdv.1_Missense_Mutation_p.G737R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkc.2_Missense_Mutation_p.G740R|CACNA1C_uc001qke.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G740R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G740R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G740R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G740R|CACNA1C_uc001qko.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G740R|CACNA1C_uc001qku.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G740R|CACNA1C_uc001qks.2_Missense_Mutation_p.G740R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G740R|CACNA1C_uc001qka.1_Missense_Mutation_p.G275R|CACNA1C_uc001qki.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkj.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkk.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkm.1_Missense_Mutation_p.G476R|CACNA1C_uc001qkw.2_Missense_Mutation_p.G29R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	740	Helical; Name=S6 of repeat II; (Potential).|II.				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			ovary(10)|central_nervous_system(1)	11			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)	CTTCATCTGTGGAAACTGTAT	0.587													A	2692102	G	A	2692102	3	1	172	1	0	0	0	0	1	0	0	0	2540	1349	47	4	2384	4	CACNA1C	12	2692102	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1655711	2692102	131159793	1157	94269											
CACNA1C	775	broad.mit.edu	37	chr12	2764356	2764356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataccacagagatcaaccGgaacaacaactttcagacct	6	12	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2764356G>A	uc009zdu.1	+	36	4641	c.4328G>A	c.(4327-4329)CGG>CAG	p.R1443Q	CACNA1C_uc009zdv.1_Missense_Mutation_p.R1392Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1382Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1417Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1384Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1443Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1415Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1412Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1423Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1395Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1131Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1120Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R86Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1443	Extracellular (Potential).|IV.				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			ovary(10)|central_nervous_system(1)	11			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)	GAGATCAACCGGAACAACAAC	0.502													A	2764356	G	A	2764356	3	1	172	1	0	0	0	0	1	0	0	0	2540	1116	39	1	4644	1	CACNA1C	12	2764356	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	72254	2764356	131087539	1158	94270											
FKBP4	2288	broad.mit.edu	37	chr12	2907948	2907948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcgcagaatacagactcGcggtgaaggctatgctaagc	11	10	0	3	rs1062478		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2907948G>A	uc001qkz.2	+	4	668	c.470G>A	c.(469-471)CGC>CAC	p.R157H		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	FK506 binding protein 52	157					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging				0			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	ATACAGACTCGCGGTGAAGGC	0.363													A	2907948	G	A	2907948	3	1	172	1	0	0	0	0	1	0	0	0	5910	1087	38	1	484	1	FKBP4	12	2907948	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	143592	2907948	130943947	1159	94271											
ITFG2	55846	broad.mit.edu	37	chr12	2929961	2929961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctcagccaggttgtgcGtatgcaattctactgtgtac	11	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:2929961G>A	uc001qlb.1	+	6	682	c.618G>A	c.(616-618)GCG>GCA	p.A206A	ITFG2_uc010seb.1_Silent_p.A29A|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	206											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGGTTGTGCGTATGCAATTC	0.562													A	2929961	G	A	2929961	2	1	172	1	0	0	0	0	0	0	0	1	7870	1132	40	1		1	ITFG2	12	2929961	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	22013	2929961	130921934	1160	94272											
KCNA5	3741	broad.mit.edu	37	chr12	5153819	5153819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttcttcgaccgcaaccGgcccagcttcgacggtatcc	9	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:5153819G>A	uc001qni.2	+	1	735	c.506G>A	c.(505-507)CGG>CAG	p.R169Q		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	169						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GACCGCAACCGGCCCAGCTTC	0.657													A	5153819	G	A	5153819	3	1	172	1	0	0	0	0	1	0	0	0	8006	1116	39	1	508	1	KCNA5	12	5153819	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2223858	5153819	128698076	1161	94273											
CHD4	1108	broad.mit.edu	37	chr12	6692419	6692419	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttacggattctttttccTttgcccagatttcgggctag	9	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:6692419T>G	uc001qpo.2	-	26	4169	c.4005A>C	c.(4003-4005)AAA>AAC	p.K1335N	CHD4_uc001qpn.2_Missense_Mutation_p.K1328N|CHD4_uc001qpp.2_Missense_Mutation_p.K1332N|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1335					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						TTCTTTTTCCTTTGCCCAGAT	0.532													G	6692419	T	G	6692419	3	3	172	1	0	0	0	0	1	0	0	0	3327	1606	56	5	1793	5	CHD4	12	6692419	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1538600	6692419	127159476	1162	94274											
CHD4	1108	broad.mit.edu	37	chr12	6707515	6707515	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcagcatctggaggccgaGgcactggtgtgggagatggt	18	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:6707515G>T	uc001qpo.2	-	11	1723	c.1559C>A	c.(1558-1560)CCT>CAT	p.P520H	CHD4_uc001qpn.2_Missense_Mutation_p.P513H|CHD4_uc001qpp.2_Missense_Mutation_p.P517H	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	520	Chromo 1.				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						TGGAGGCCGAGGCACTGGTGT	0.552													T	6707515	G	T	6707515	3	4	172	1	0	0	0	0	1	0	0	0	3327	1000	35	5	4299	5	CHD4	12	6707515	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	15096	6707515	127144380	1163	94275											
ACRBP	84519	broad.mit.edu	37	chr12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaagggttagaagatagaGattcagagtgaaacttgggc	15	3	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:6753468G>T	uc001qpu.1	-	5	827	c.779C>A	c.(778-780)TCT>TAT	p.S260Y	ACRBP_uc010sfg.1_Missense_Mutation_p.S227Y	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	260						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						AGAAGATAGAGATTCAGAGTG	0.363													T	6753468	G	T	6753468	3	4	172	1	0	0	0	0	1	0	0	0	170	942	33	5	876	5	ACRBP	12	6753468	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	45953	6753468	127098427	1164	94276											
ATN1	1822	broad.mit.edu	37	chr12	7044832	7044832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccgaagcacgtcccccagTatctacagccctggaagtgt	9	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:7044832T>C	uc001qrw.1	+	5	639	c.402T>C	c.(400-402)AGT>AGC	p.S134S	ATN1_uc001qrx.1_Silent_p.S134S|ATN1_uc001qry.1_Silent_p.S133S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	134					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CGTCCCCCAGTATCTACAGCC	0.592													C	7044832	T	C	7044832	2	2	172	1	0	0	0	0	0	0	0	1	1111	1635	57	3		3	ATN1	12	7044832	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	291364	7044832	126807063	1165	94277											
C1R	715	broad.mit.edu	37	chr12	7187997	7187997	+	Frame_Shift_Del	DEL	C	C	-													tgcaaaaacgcccccactatCcccctggcaggcgtcctgct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:7187997delC	uc010sfy.1	-	10	2016	c.1957delG	c.(1957-1959)GATfs	p.D653fs		NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	653	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					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)	CCCCCACTATCCCCCTGGCAG	0.577													-	7187997	C	-	7187997	7	5	172	1	0	1	0	1	0	0	0	0	1972	855	30	0	164	0	C1R	12	7187997	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	143165	7187997	126663898	1166	94278											
C1R	715	broad.mit.edu	37	chr12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-													tgtagttgcagcgcaggtcaGgggggtaggaccgagggtac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:7242010delG	uc010sfy.1	-	5	706	c.647delC	c.(646-648)CCTfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					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)	GCGCAGGTCAGGGGGGTAGGA	0.597													-	7242010	G	-	7242010	7	5	172	1	0	1	0	1	0	0	0	0	1972	1000	35	0	1177	0	C1R	12	7242010	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	54013	7242010	126609885	1167	94279											
CLEC4A	50856	broad.mit.edu	37	chr12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgttgtgctaaattttcGtaaatcacccaaaagatggg	9	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:8290795G>A	uc001qtz.1	+	6	873	c.626G>A	c.(625-627)CGT>CAT	p.R209H	CLEC4A_uc009zga.1_Missense_Mutation_p.R170H|CLEC4A_uc001qub.1_Missense_Mutation_p.R176H|CLEC4A_uc001quc.1_Missense_Mutation_p.R137H|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	209	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433													A	8290795	G	A	8290795	3	1	172	1	0	0	0	0	1	0	0	0	3512	1145	40	1	648	1	CLEC4A	12	8290795	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1048785	8290795	125561100	1168	94280											
RIMKLB	57494	broad.mit.edu	37	chr12	8926340	8926340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggggcctgttcaacatgaAccagctgctagccaatgaaa	11	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:8926340A>G	uc001quu.2	+	6	1372	c.1121A>G	c.(1120-1122)AAC>AGC	p.N374S	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.N374S|RIMKLB_uc010sgl.1_Missense_Mutation_p.N374S|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	374					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TTCAACATGAACCAGCTGCTA	0.463													G	8926340	A	G	8926340	3	3	172	1	0	0	0	0	1	0	0	0	13366	43	2	3	1139	3	RIMKLB	12	8926340	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	635545	8926340	124925555	1169	94281											
M6PR	4074	broad.mit.edu	37	chr12	9095057	9095057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggctaagtggggaaaCtgctccattcctttggctcc	11	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:9095057C>T	uc001qvf.2	-	6	836	c.666G>A	c.(664-666)CAG>CAA	p.Q222Q		NM_002355	NP_002346	P20645	MPRD_HUMAN	cation-dependent mannose-6-phosphate receptor	222	Cytoplasmic (Potential).				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				0		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		AGTGGGGAAACTGCTCCATTC	0.473													T	9095057	C	T	9095057	2	4	172	1	0	0	0	0	0	0	0	1	9140	564	20	4		4	M6PR	12	9095057	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	168717	9095057	124756838	1170	94282											
TAS2R14	50840	broad.mit.edu	37	chr12	11091566	11091567	+	Frame_Shift_Ins	INS	-	-	T													ttagtaagcattctgaacatINStttttcagtggcaaataaag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:11091565_11091566A>AT	uc010shi.2	-	0	241_242	c.241_242T>AT	c.(241-243)atgfs	p.M81fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	81					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						CATTCTGAACATTTTTTCAGTG	0.391													T	11091567	-	T	11091566	7	5	172	1	0	1	1	0	0	0	0	0	15565	1493	52	0	715	0	TAS2R14	12	11091566	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1996509	11091566	122760329	1171	94283											
BCL2L14	79370	broad.mit.edu	37	chr12	12247797	12247797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccacccgatgaacagggTcctgggctttggcaccaagt	11	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:12247797T>C	uc001rac.2	+	5	1079	c.878T>C	c.(877-879)GTC>GCC	p.V293A	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.V293A|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	293					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ATGAACAGGGTCCTGGGCTTT	0.498													C	12247797	T	C	12247797	3	2	172	1	0	0	0	0	1	0	0	0	1372	1667	58	3	977	3	BCL2L14	12	12247797	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1156231	12247797	121604098	1172	94284											
LRP6	4040	broad.mit.edu	37	chr12	12339968	12339968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcaagccaaaatggagtGtgtgctccagtcagtccagt	12	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:12339968G>A	uc001rah.3	-	4	875	c.733C>T	c.(733-735)CAC>TAC	p.H245Y	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H245Y	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	245	Extracellular (Potential).|Beta-propeller 1.|LDL-receptor class B 5.				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			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				AAAATGGAGTGTGTGCTCCAG	0.448													A	12339968	G	A	12339968	3	1	172	1	0	0	0	0	1	0	0	0	8962	1377	48	4	4188	4	LRP6	12	12339968	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	92171	12339968	121511927	1173	94285											
ATF7IP	55729	broad.mit.edu	37	chr12	14577801	14577802	+	Frame_Shift_Ins	INS	-	-	A													taaagatgatgattttcttgINSaaaaaaatggagctgatgaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:14577801_14577802insA	uc001rbw.2	+	2	1110_1111	c.952_953insA	c.(952-954)GAAfs	p.E318fs	ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.2_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	318					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			lung(3)|ovary(1)|skin(1)	5						TGATTTTCTTGAAAAAAATGGA	0.317													A	14577802	-	A	14577801	7	5	172	1	0	1	1	0	0	0	0	0	1087	1291	45	0	954	0	ATF7IP	12	14577801	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2237833	14577801	119274094	1174	94286	465	2									
ATF7IP	55729	broad.mit.edu	37	chr12	14577802	14577803	+	Frame_Shift_Ins	INS	-	-	A													aaagatgatgattttcttgaINSaaaaaatggagctgatgaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:14577801_14577802G>GA	uc001rbw.3	+	1	1110_1111	c.952_953G>GA	c.(952-954)gaafs	p.E318fs	ATF7IP_uc010shs.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbu.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbv.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc010sht.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rbz.1_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.E318fs|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	318					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						TGATTTTCTTGAAAAAAATGGA	0.317													A	14577803	-	A	14577802	7	5	172	1	0	1	1	0	0	0	0	0	1087	246	9	0	955	0	ATF7IP	12	14577802	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	14577802	119274093	1175	94287	465	2									
ART4	420	broad.mit.edu	37	chr12	14993875	14993876	+	Frame_Shift_Del	DEL	GT	GT	-													taaaacaaaatagccacagcGtgtgtggtagtcatgttctg					rs144350521	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:14993875_14993876delGT	uc001rcl.1	-	2	722_723	c.356_357delAC	c.(355-357)CACfs	p.H119fs	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Frame_Shift_Del_p.H119fs	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	119					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0						TAGCCACAGCGTGTGTGGTAGT	0.436													-	14993876	GT	-	14993875	7	5	172	1	0	1	0	1	0	0	0	0	999	1136	40	0	595	0	ART4	12	14993875	Frame_Shift_Del	DEL	GT	TCGA-CG-4442-01A-01D-1158-08	416073	14993875	118858020	1176	94288											
LMO3	55885	broad.mit.edu	37	chr12	16713448	16713448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcttactacaggcagcGcagtttcccgttacaccaaa	8	12	0	1	rs149014326		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:16713448G>A	uc001rdk.1	-	3	671	c.231C>T	c.(229-231)TGC>TGT	p.C77C	LMO3_uc001rdj.1_Silent_p.C88C|LMO3_uc010shy.1_Silent_p.C95C|LMO3_uc001rdl.1_Silent_p.C77C|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Silent_p.C99C|LMO3_uc001rdm.1_Silent_p.C77C|LMO3_uc001rdo.1_RNA|LMO3_uc001rdp.1_RNA|LMO3_uc001rdn.1_Silent_p.C77C|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	77	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				TACAGGCAGCGCAGTTTCCCG	0.413													A	16713448	G	A	16713448	2	1	172	1	0	0	0	0	0	0	0	1	8853	1079	38	1		1	LMO3	12	16713448	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1719573	16713448	117138447	1177	94289											
RECQL	5965	broad.mit.edu	37	chr12	21628712	21628712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcccagattctgcaaactAaccgtaacttgttcagagtc	6	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:21628712A>G	uc001rex.2	-	10	1344	c.996T>C	c.(994-996)GTT>GTC	p.V332V	RECQL_uc001rey.2_Silent_p.V332V	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	332	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			ovary(1)|lung(1)	2						TCTGCAAACTAACCGTAACTT	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					G	21628712	A	G	21628712	2	3	172	1	0	0	0	0	0	0	0	1	13201	349	13	3		3	RECQL	12	21628712	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4915264	21628712	112223183	1178	94290											
ABCD2	225	broad.mit.edu	37	chr12	40013372	40013372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttagcagcactcgatcTggtccatttcactcgatcag	7	14	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:40013372T>C	uc001rmb.2	-	1	472	c.46A>G	c.(46-48)AGA>GGA	p.R16G		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	16	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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						GCACTCGATCTGGTCCATTTC	0.473													C	40013372	T	C	40013372	3	2	172	1	0	0	0	0	1	0	0	0	61	1588	55	3	2216	3	ABCD2	12	40013372	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	18384660	40013372	93838523	1179	94291											
PRICKLE1	144165	broad.mit.edu	37	chr12	42859016	42859016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagcaggcttccgtggCgtgccagtgctgcccgtcat	13	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:42859016C>T	uc010skv.1	-	7	1107	c.820G>A	c.(820-822)GCC>ACC	p.A274T	PRICKLE1_uc001rnl.2_Missense_Mutation_p.A274T|PRICKLE1_uc010skw.1_Missense_Mutation_p.A274T|PRICKLE1_uc001rnm.2_Missense_Mutation_p.A274T	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	274	LIM zinc-binding 3.				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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTTCCGTGGCGTGCCAGTGC	0.473													T	42859016	C	T	42859016	3	4	172	1	0	0	0	0	1	0	0	0	12486	768	27	1	1683	1	PRICKLE1	12	42859016	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2845644	42859016	90992879	1180	94292											
SLC38A4	55089	broad.mit.edu	37	chr12	47178327	47178327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagtatatccccttacctCcaatgttctgcattgtaatg	5	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:47178327C>T	uc001rpi.2	-	7	890	c.491G>A	c.(490-492)GGA>GAA	p.G164E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G164E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G164E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	164	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					CCCCTTACCTCCAATGTTCTG	0.348													T	47178327	C	T	47178327	3	4	172	1	0	0	0	0	1	0	0	0	14606	855	30	4	1196	4	SLC38A4	12	47178327	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4319311	47178327	86673568	1181	94293											
ADCY6	112	broad.mit.edu	37	chr12	49167430	49167430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgttcccgatgaagtActgcgggggtggcagaggca	16	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49167430A>G	uc001rsh.3	-	15	3103	c.2443T>C	c.(2443-2445)TAC>CAC	p.Y815H	ADCY6_uc001rsj.3_Missense_Mutation_p.Y815H|ADCY6_uc001rsi.3_Missense_Mutation_p.Y762H|ADCY6_uc010slw.1_Missense_Mutation_p.Y46H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	815	Extracellular (Potential).				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	ATP binding|metal ion binding				0						CCGATGAAGTACTGCGGGGGT	0.597													G	49167430	A	G	49167430	3	3	172	1	0	0	0	0	1	0	0	0	298	405	14	3	1091	3	ADCY6	12	49167430	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1989103	49167430	84684465	1182	94294											
MLL2	8085	broad.mit.edu	37	chr12	49434800	49434800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacagccaagttatccagCgaggggcagcggggtttgag	17	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49434800C>T	uc001rta.3	-	31	6753	c.6753G>A	c.(6751-6753)TCG>TCA	p.S2251S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2251	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGTTATCCAGCGAGGGGCAGC	0.667			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49434800	C	T	49434800	2	4	172	1	0	0	0	0	0	0	0	1	9621	755	27	1		1	MLL2	12	49434800	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	267370	49434800	84417095	1183	94295											
MLL2	8085	broad.mit.edu	37	chr12	49443667	49443667	+	Frame_Shift_Del	DEL	C	C	-													actccatggacagggagccaCccccctccgggtctggagag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49443667delC	uc001rta.3	-	11	3704	c.3704delG	c.(3703-3705)GGTfs	p.G1235fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1235					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGGGAGCCACCCCCCTCCGG	0.592			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49443667	C	-	49443667	7	5	172	1	0	1	0	1	0	0	0	0	9621	507	18	0	13085	0	MLL2	12	49443667	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	8867	49443667	84408228	1184	94296											
MLL2	8085	broad.mit.edu	37	chr12	49448408	49448408	+	Frame_Shift_Del	DEL	C	C	-													gcctcattgggccctgggctCcccccaggggacaccactgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:49448408delC	uc001rta.3	-	3	303	c.303delG	c.(301-303)GGGfs	p.G101fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	101					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCCCTGGGCTCCCCCCAGGGG	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49448408	C	-	49448408	7	5	172	1	0	1	0	1	0	0	0	0	9621	842	30	0	16518	0	MLL2	12	49448408	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	4741	49448408	84403487	1185	94297											
DIP2B	57609	broad.mit.edu	37	chr12	51100412	51100412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacattgttgctactggatTggctgtagaatcaataaaga	10	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:51100412T>C	uc001rwv.2	+	21	2654	c.2498T>C	c.(2497-2499)TTG>TCG	p.L833S	DIP2B_uc009zlt.2_Missense_Mutation_p.L263S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	833						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						GCTACTGGATTGGCTGTAGAA	0.383													C	51100412	T	C	51100412	3	2	172	1	0	0	0	0	1	0	0	0	4528	1821	63	3	2580	3	DIP2B	12	51100412	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1652004	51100412	82751483	1186	94298											
SLC4A8	9498	broad.mit.edu	37	chr12	51865099	51865099	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttcatacctctccctgCgagcttgtattggactgtgg	9	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:51865099C>T	uc001rys.1	+	14	1865	c.1687C>T	c.(1687-1689)CGA>TGA	p.R563*	SLC4A8_uc010sni.1_Nonsense_Mutation_p.R510*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.R510*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.R510*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.R510*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.R590*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.R563*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.R563*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.R510*	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	563	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCTCTCCCTGCGAGCTTGTAT	0.468													T	51865099	C	T	51865099	4	4	172	1	0	0	0	0	0	1	0	0	14659	760	27	1	1741	1	SLC4A8	12	51865099	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	764687	51865099	81986796	1187	94299											
KRT84	3890	broad.mit.edu	37	chr12	52779139	52779139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagccagcaccaaagcgGactccacagtggatgggccg	12	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:52779139G>A	uc001sah.1	-	1	279	c.231C>T	c.(229-231)GTC>GTT	p.V77V		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	77	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCAAAGCGGACTCCACAGT	0.597													A	52779139	G	A	52779139	2	1	172	1	0	0	0	0	0	0	0	1	8498	1161	41	4		4	KRT84	12	52779139	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	914040	52779139	81072756	1188	94300											
KRT74	121391	broad.mit.edu	37	chr12	52960950	52960950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagctgctactgctgatgaCagctgaggaggaggggccaa	16	8	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:52960950C>A	uc001sap.1	-	9	1441	c.1393G>T	c.(1393-1395)GTC>TTC	p.V465F		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	465	Tail.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCTGATGACAGCTGAGGAG	0.607													A	52960950	C	A	52960950	3	1	172	1	0	0	0	0	1	0	0	0	8487	478	17	5	200	5	KRT74	12	52960950	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	181811	52960950	80890945	1189	94301											
KRT18	3875	broad.mit.edu	37	chr12	53343180	53343180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggggtctggcaggaatgGgaggcatccagaacgagaag	18	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:53343180G>A	uc001sbe.2	+	2	292	c.223G>A	c.(223-225)GGA>AGA	p.G75R	KRT18_uc009zmn.1_Missense_Mutation_p.G75R|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.G75R|KRT18_uc009zmo.2_Missense_Mutation_p.G75R|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	75	Head.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						GGCAGGAATGGGAGGCATCCA	0.657													A	53343180	G	A	53343180	3	1	172	1	0	0	0	0	1	0	0	0	8455	1233	43	4	225	4	KRT18	12	53343180	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	382230	53343180	80508715	1190	94302											
AMHR2	269	broad.mit.edu	37	chr12	53818978	53818978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatggcactggtgctgCtggggctgttcctcctcctc	13	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:53818978C>T	uc001scx.1	+	4	532	c.454C>T	c.(454-456)CTG>TTG	p.L152L	AMHR2_uc009zmy.1_Silent_p.L152L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	152	Helical; (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	ACTGGTGCTGCTGGGGCTGTT	0.577									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				T	53818978	C	T	53818978	2	4	172	1	0	0	0	0	0	0	0	1	573	796	28	2		2	AMHR2	12	53818978	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	475798	53818978	80032917	1191	94303											
ITGA5	3678	broad.mit.edu	37	chr12	54801974	54801974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatcaggtactcggggTaataagattctgcaatctgc	12	7	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:54801974T>C	uc001sga.2	-	7	805	c.737A>G	c.(736-738)TAC>TGC	p.Y246C	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	246	Extracellular (Potential).				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			ovary(2)	2						GTACTCGGGGTAATAAGATTC	0.547													C	54801974	T	C	54801974	3	2	172	1	0	0	0	0	1	0	0	0	7879	1638	57	3	2508	3	ITGA5	12	54801974	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	982996	54801974	79049921	1192	94304											
LACRT	90070	broad.mit.edu	37	chr12	55025549	55025549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattgttttccacctggcaCgcctccgtgcattccttttc	7	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:55025549C>T	uc001sgi.1	-	4	366	c.328G>A	c.(328-330)GTG>ATG	p.V110M		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	lacritin precursor	110					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			central_nervous_system(1)	1						CCACCTGGCACGCCTCCGTGC	0.468													T	55025549	C	T	55025549	3	4	172	1	0	0	0	0	1	0	0	0	8596	536	19	1	96	1	LACRT	12	55025549	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	223575	55025549	78826346	1193	94305											
OR6C70	390327	broad.mit.edu	37	chr12	55863619	55863620	+	Frame_Shift_Ins	INS	-	-	A													gtaacccccaagaatatgtaINSaaaaaacaactgagatatgc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:55863618_55863619T>TA	uc010spn.2	-	0	304_305	c.304_305A>TA	c.(304-306)tacfs	p.Y102fs		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	102					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						CAAGAATATGTAAAAAAACAAC	0.391													A	55863620	-	A	55863619	7	5	172	1	0	1	1	0	0	0	0	0	11197	362	13	0	636	0	OR6C70	12	55863619	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	838070	55863619	77988276	1194	94306											
DGKA	1606	broad.mit.edu	37	chr12	56333930	56333930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgaagtcagcacctaTgccaagtctcggaaggacat	10	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:56333930T>C	uc001sij.2	+	10	1038	c.774T>C	c.(772-774)TAT>TAC	p.Y258Y	DGKA_uc009zoc.1_Silent_p.Y258Y|DGKA_uc001sih.1_Silent_p.Y146Y|DGKA_uc001sii.1_Silent_p.Y116Y|DGKA_uc009zod.1_Silent_p.Y177Y|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.Y258Y|DGKA_uc001sil.2_Silent_p.Y258Y|DGKA_uc001sim.2_Silent_p.Y258Y|DGKA_uc001sin.2_Silent_p.Y258Y|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.M1T	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	258					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			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	TCAGCACCTATGCCAAGTCTC	0.557											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	56333930	T	C	56333930	2	2	172	1	0	0	0	0	0	0	0	1	4465	1471	51	3		3	DGKA	12	56333930	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	470311	56333930	77517965	1195	94307											
ERBB3	2065	broad.mit.edu	37	chr12	56489571	56489571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaataaaagggctatgaggcGatacttggaacggggtgagg	17	4	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:56489571G>A	uc001sjh.2	+	17	2229	c.2036G>A	c.(2035-2037)CGA>CAA	p.R679Q	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R36Q|ERBB3_uc010sqc.1_Missense_Mutation_p.R620Q|ERBB3_uc009zok.2_Missense_Mutation_p.R121Q|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	679	Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTATGAGGCGATACTTGGAA	0.433													A	56489571	G	A	56489571	3	1	172	1	0	0	0	0	1	0	0	0	5208	1058	37	1	2233	1	ERBB3	12	56489571	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	155641	56489571	77362324	1196	94308											
ANKRD52	283373	broad.mit.edu	37	chr12	56642611	56642611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagccctgcctgtcccGcagggaggggtctgcaccgt	15	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:56642611G>A	uc001skm.3	-	16	1726	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	546							protein binding			ovary(2)	2						TGCCTGTCCCGCAGGGAGGGG	0.637													A	56642611	G	A	56642611	3	1	172	1	0	0	0	0	1	0	0	0	678	1086	38	1	1646	1	ANKRD52	12	56642611	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	153040	56642611	77209284	1197	94309											
MYO1A	4640	broad.mit.edu	37	chr12	57435035	57435035	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacctgctgcagcttctcaTtgcagtagttgatcacaaat	7	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57435035T>A	uc001smw.3	-	14	1445	c.1202A>T	c.(1201-1203)AAT>ATT	p.N401I	MYO1A_uc010sqz.1_Missense_Mutation_p.N239I|MYO1A_uc009zpd.2_Missense_Mutation_p.N401I	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	401	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			skin(4)|ovary(2)|urinary_tract(1)	7						CAGCTTCTCATTGCAGTAGTT	0.443													A	57435035	T	A	57435035	3	1	172	1	0	0	0	0	1	0	0	0	10068	1493	52	5	1989	5	MYO1A	12	57435035	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	792424	57435035	76416860	1198	94310											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	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)			CGTGTGCCACTGGGGGGGCTG	0.597													-	57860075	G	-	57860075	7	5	172	1	0	1	0	1	0	0	0	0	6437	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	425040	57860075	75991820	1199	94311											
ARHGAP9	64333	broad.mit.edu	37	chr12	57871291	57871291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggacttgcagccagtcAgtgaatttatgtagaagcag	11	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57871291A>G	uc001sod.2	-	7	1113	c.920T>C	c.(919-921)CTG>CCG	p.L307P	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Missense_Mutation_p.L52P|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Missense_Mutation_p.L236P|ARHGAP9_uc001soc.2_Missense_Mutation_p.L236P|ARHGAP9_uc001soe.1_Missense_Mutation_p.L315P|ARHGAP9_uc010sro.1_Missense_Mutation_p.L236P	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	236	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			GCAGCCAGTCAGTGAATTTAT	0.632													G	57871291	A	G	57871291	3	3	172	1	0	0	0	0	1	0	0	0	889	188	7	3	1548	3	ARHGAP9	12	57871291	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	11216	57871291	75980604	1200	94312											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921402	+	Frame_Shift_Ins	INS	-	-	C													cccctccaactcagggagacINSccccccaactccttagccct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57921400_57921401A>AC	uc001soj.1	+	7	2417_2418	c.2193_2194A>AC	c.(2191-2196)agacccfs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAACT	0.599													C	57921402	-	C	57921401	7	5	172	1	0	1	1	0	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	50110	57921401	75930494	1201	94313											
MBD6	114785	broad.mit.edu	37	chr12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G													ggggctgcagctcctccctgINSgggggggagctcctccaccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629													G	57921733	-	G	57921732	7	5	172	1	0	1	1	0	0	0	0	0	9348	1348	47	0	2364	0	MBD6	12	57921732	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	331	57921732	75930163	1202	94314											
DCTN2	10540	broad.mit.edu	37	chr12	57924555	57924555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttcacgcatggttgtctGcacctacaaagtggtagaga	11	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:57924555G>A	uc001som.1	-	14	1255	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*	DCTN2_uc009zpu.1_Nonsense_Mutation_p.Q380*|DCTN2_uc009zpv.1_Nonsense_Mutation_p.Q288*|DCTN2_uc009zpw.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001sop.1_Nonsense_Mutation_p.Q288*|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Nonsense_Mutation_p.Q351*	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	dynactin 2	375					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			ovary(1)	1						ATGGTTGTCTGCACCTACAAA	0.478													A	57924555	G	A	57924555	4	1	172	1	0	0	0	0	0	1	0	0	4307	1328	46	2	86	2	DCTN2	12	57924555	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2823	57924555	75927340	1203	94315											
USP15	9958	broad.mit.edu	37	chr12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-													gtgtggagtataaacctcctAaaaaaccctttgtgaaatta							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:62786090_62786090TA>T	uc001src.2	+	17	2418	c.2343_2343TA>T	c.(2341-2343)cctfs	p.P781fs	USP15_uc001srb.2_Frame_Shift_Del_p.P752fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	781					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)		ATAAACCTCCTAAAAAACCCT	0.303													-	62786091	A	-	62786091	7	5	172	1	0	1	0	1	0	0	0	0	17043	363	13	0	2323	0	USP15	12	62786091	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	4861536	62786091	71065804	1204	94316											
MON2	23041	broad.mit.edu	37	chr12	62943509	62943509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgacagattttctaccaAcaatgccttgtacttgcctg	7	10	1	2	rs71465159		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:62943509A>G	uc001sre.2	+	23	3206	c.2815A>G	c.(2815-2817)ACA>GCA	p.T939A	MON2_uc009zqj.2_Missense_Mutation_p.T939A|MON2_uc010ssl.1_Missense_Mutation_p.T867A|MON2_uc010ssm.1_Missense_Mutation_p.T916A|MON2_uc010ssn.1_Missense_Mutation_p.T939A|MON2_uc001srf.2_Missense_Mutation_p.T702A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	940					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCTACCAACAATGCCTTG	0.358													G	62943509	A	G	62943509	3	3	172	1	0	0	0	0	1	0	0	0	9700	43	2	3	2905	3	MON2	12	62943509	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	157418	62943509	70908386	1205	94317											
MON2	23041	broad.mit.edu	37	chr12	62954787	62954787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcacagtgctatttcagTcccaataagttcagatgcat	7	9	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:62954787T>C	uc001sre.2	+	26	4317	c.3926T>C	c.(3925-3927)GTC>GCC	p.V1309A	MON2_uc009zqj.2_Missense_Mutation_p.V1309A|MON2_uc010ssl.1_Missense_Mutation_p.V1237A|MON2_uc010ssm.1_Missense_Mutation_p.V1286A|MON2_uc010ssn.1_Missense_Mutation_p.V1309A|MON2_uc001srf.2_Missense_Mutation_p.V1072A|MON2_uc001srg.2_Missense_Mutation_p.V184A	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1310					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GCTATTTCAGTCCCAATAAGT	0.373													C	62954787	T	C	62954787	3	2	172	1	0	0	0	0	1	0	0	0	9700	1667	58	3	4028	3	MON2	12	62954787	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	11278	62954787	70897108	1206	94318											
SRGAP1	57522	broad.mit.edu	37	chr12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-													gatctgcaagatttcttccgAaaaaaagctgaaattgagac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:64377821delA	uc010ssp.1	+	2	218	c.162delA	c.(160-162)CGAfs	p.R54fs	SRGAP1_uc001srt.2_Frame_Shift_Del_p.R54fs|SRGAP1_uc001srv.2_Frame_Shift_Del_p.R14fs	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	FCH.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418													-	64377821	A	-	64377821	7	5	172	1	0	1	0	1	0	0	0	0	15144	233	9	0	168	0	SRGAP1	12	64377821	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1423034	64377821	69474074	1207	94319											
HMGA2	8091	broad.mit.edu	37	chr12	66221835	66221835	+	Frame_Shift_Del	DEL	A	A	-													ggggaagacccaaaggcagcAaaaacaagagtccctctaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:66221835delA	uc001ssx.2	+	2	977	c.166delA	c.(166-168)AAAfs	p.K56fs	RPSAP52_uc001sso.2_5'Flank|HMGA2_uc001ssw.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssp.1_RNA|HMGA2_uc010ssv.1_RNA|HMGA2_uc001sss.1_RNA|HMGA2_uc001sst.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssu.1_Frame_Shift_Del_p.K56fs|HMGA2_uc001ssv.2_Frame_Shift_Del_p.K56fs	NM_003483	NP_003474	P52926	HMGA2_HUMAN	high mobility group AT-hook 2 isoform a	56	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	soft_tissue(159)|bone(27)|salivary_gland(22)	208	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)		CAAAGGCAGCAAAAACAAGAG	0.463			T	LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT	lipoma|leiomyoma|pleiomorphic salivary gland adenoma								-	66221835	A	-	66221835	7	5	172	1	0	1	0	1	0	0	0	0	7224	131	5	0	172	0	HMGA2	12	66221835	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1844014	66221835	67630060	1208	94320											
RAP1B	5908	broad.mit.edu	37	chr12	69050939	69050939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtgcctgggaaggctcGcaaaaagtcatcatgtcagc	11	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:69050939G>A	uc001sub.2	+	7	690	c.527G>A	c.(526-528)CGC>CAC	p.R176H	RAP1B_uc010ste.1_Missense_Mutation_p.R110H|RAP1B_uc001suc.2_Missense_Mutation_p.R176H|RAP1B_uc010stf.1_Missense_Mutation_p.R157H|RAP1B_uc010stg.1_Missense_Mutation_p.R134H|RAP1B_uc010sth.1_Missense_Mutation_p.R134H|RAP1B_uc010sti.1_Missense_Mutation_p.R129H	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	176					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GGGAAGGCTCGCAAAAAGTCA	0.378													A	69050939	G	A	69050939	3	1	172	1	0	0	0	0	1	0	0	0	13036	1087	38	1	549	1	RAP1B	12	69050939	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2829104	69050939	64800956	1209	94321											
RAB3IP	117177	broad.mit.edu	37	chr12	70149312	70149312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccaagtgtcatctacCggccacacccttcagcttta	5	17	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:70149312C>T	uc001svp.2	+	2	619	c.172C>T	c.(172-174)CGG>TGG	p.R58W	RAB3IP_uc001svl.1_Missense_Mutation_p.R42W|RAB3IP_uc001svm.2_Missense_Mutation_p.R42W|RAB3IP_uc001svn.2_Missense_Mutation_p.R42W|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.R58W|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	58					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			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTCATCTACCGGCCACACCC	0.468													T	70149312	C	T	70149312	3	4	172	1	0	0	0	0	1	0	0	0	12938	643	23	1	178	1	RAB3IP	12	70149312	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1098373	70149312	63702583	1210	94322											
NAP1L1	4673	broad.mit.edu	37	chr12	76453978	76453978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatcgtgaacttcctcAtagaatttggcttctatctg	7	9	4	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:76453978A>G	uc001sxw.2	-	5	700	c.288T>C	c.(286-288)TAT>TAC	p.Y96Y	NAP1L1_uc001sxv.2_Silent_p.Y54Y|NAP1L1_uc001sxz.2_Silent_p.Y54Y|NAP1L1_uc001sxx.2_Silent_p.Y96Y|NAP1L1_uc001sxy.2_Silent_p.Y33Y|NAP1L1_uc010sty.1_Silent_p.Y54Y|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Silent_p.Y96Y|NAP1L1_uc001syb.2_Silent_p.Y96Y|NAP1L1_uc001sya.2_Silent_p.Y54Y|NAP1L1_uc001syc.2_Silent_p.Y96Y	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	96					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				GAACTTCCTCATAGAATTTGG	0.373													G	76453978	A	G	76453978	2	3	172	1	0	0	0	0	0	0	0	1	10156	224	8	3		3	NAP1L1	12	76453978	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6304666	76453978	57397917	1211	94323											
BBS10	79738	broad.mit.edu	37	chr12	76740960	76740960	+	Frame_Shift_Del	DEL	A	A	-													aaactctgatccagaagtggAaaaaagaggctgaatggttt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:76740960delA	uc001syd.1	-	2	889	c.805delT	c.(805-807)TCCfs	p.S269fs		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	269					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						CCAGAAGTGGAAAAAAGAGGC	0.383									Bardet-Biedl_syndrome				-	76740960	A	-	76740960	7	5	172	1	0	1	0	1	0	0	0	0	1336	246	9	0	1370	0	BBS10	12	76740960	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	286982	76740960	57110935	1212	94324											
NAV3	89795	broad.mit.edu	37	chr12	78513556	78513556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctcgagtcctgtcaccGtcaaccaaacagacaaggaa	10	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:78513556G>A	uc001syp.2	+	15	3753	c.3580G>A	c.(3580-3582)GTC>ATC	p.V1194I	NAV3_uc001syo.2_Missense_Mutation_p.V1194I|NAV3_uc010sub.1_Missense_Mutation_p.V694I|NAV3_uc009zsf.2_Missense_Mutation_p.V202I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1194	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCCTGTCACCGTCAACCAAAC	0.512										HNSCC(70;0.22)			A	78513556	G	A	78513556	3	1	172	1	0	0	0	0	1	0	0	0	10185	1145	40	1	3638	1	NAV3	12	78513556	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1772596	78513556	55338339	1213	94325											
PPFIA2	8499	broad.mit.edu	37	chr12	81688718	81688718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctgattccaatttctcTctggatctcagtgtcagata	7	9	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:81688718T>C	uc001szo.1	-	24	2982	c.2821A>G	c.(2821-2823)AGA>GGA	p.R941G	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	867										ovary(3)|lung(2)|pancreas(1)	6						CCAATTTCTCTCTGGATCTCA	0.498													C	81688718	T	C	81688718	3	2	172	1	0	0	0	0	1	0	0	0	12310	1559	54	3	988	3	PPFIA2	12	81688718	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3175162	81688718	52163177	1214	94326											
PPFIA2	8499	broad.mit.edu	37	chr12	81839401	81839401	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagaacttcaacttcactGgatactcctgagggagactg	10	9	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:81839401G>T	uc001szo.1	-	6	665	c.504C>A	c.(502-504)TCC>TCA	p.S168S	PPFIA2_uc010sue.1_Silent_p.S68S|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	94										ovary(3)|lung(2)|pancreas(1)	6						CAACTTCACTGGATACTCCTG	0.438													T	81839401	G	T	81839401	2	4	172	1	0	0	0	0	0	0	0	1	12310	1335	47	5		5	PPFIA2	12	81839401	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	150683	81839401	52012494	1215	94327											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449618	85449618	+	Frame_Shift_Del	DEL	A	A	-													caaaggataaaagaagagagAaaaaagcaaaaggaagagga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:85449618delA	uc001tac.2	+	8	1158	c.1047delA	c.(1045-1047)AGAfs	p.R349fs	LRRIQ1_uc001tab.1_Frame_Shift_Del_p.R349fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.R324fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	349	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		aagaagagagaaaaaagcaaa	0.07													-	85449618	A	-	85449618	7	5	172	1	0	1	0	1	0	0	0	0	9029	243	9	0	1073	0	LRRIQ1	12	85449618	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	3610217	85449618	48402277	1216	94328											
CCDC41	51134	broad.mit.edu	37	chr12	94772812	94772812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatcttcctccagtcTtgcaatctaataataatttt	2	9	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:94772812T>C	uc001tdd.2	-	7	1142	c.556A>G	c.(556-558)AGA>GGA	p.R186G	CCDC41_uc001tde.2_Missense_Mutation_p.R186G|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.R186G	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	178	Potential.										0						TCCTCCAGTCTTGCAATCTAA	0.318													C	94772812	T	C	94772812	3	2	172	1	0	0	0	0	1	0	0	0	2813	1617	56	3	1593	3	CCDC41	12	94772812	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	9323194	94772812	39079083	1217	94329											
CCDC38	120935	broad.mit.edu	37	chr12	96288828	96288828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctgtgctctttttagTgcttgctggatttgccaatg	11	8	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:96288828T>C	uc001tek.1	-	8	945	c.711A>G	c.(709-711)GCA>GCG	p.A237A		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	237										skin(1)	1						CTCTTTTTAGTGCTTGCTGGA	0.338													C	96288828	T	C	96288828	2	2	172	1	0	0	0	0	0	0	0	1	2810	1683	59	3		3	CCDC38	12	96288828	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1516016	96288828	37563067	1218	94330											
IKBIP	121457	broad.mit.edu	37	chr12	99007899	99007899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatctgtttttacacttgTaatcttgagaccaacatctt	4	8	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:99007899T>C	uc001tfv.2	-	3	627	c.517A>G	c.(517-519)ACA>GCA	p.T173A	IKBIP_uc001tfw.2_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	173					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0						TTTACACTTGTAATCTTGAGA	0.348													C	99007899	T	C	99007899	3	2	172	1	0	0	0	0	1	0	0	0	7609	1638	57	3	539	3	IKBIP	12	99007899	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2719071	99007899	34843996	1219	94331											
GAS2L3	283431	broad.mit.edu	37	chr12	100994275	100994275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagctgtgaggcatgaagCcactttgttgcccatgcaag	12	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:100994275C>T	uc001thu.2	+	4	360	c.134C>T	c.(133-135)GCC>GTC	p.A45V	GAS2L3_uc009zty.2_Missense_Mutation_p.A45V|GAS2L3_uc001thv.2_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	45					cell cycle arrest					skin(1)	1						AGGCATGAAGCCACTTTGTTG	0.428													T	100994275	C	T	100994275	3	4	172	1	0	0	0	0	1	0	0	0	6248	739	26	2	140	2	GAS2L3	12	100994275	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1986376	100994275	32857620	1220	94332											
NT5DC3	51559	broad.mit.edu	37	chr12	104200659	104200659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacatcataatgaagtccacGaattgcaaaatttgggtcat	7	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:104200659G>A	uc010swe.1	-	3	483	c.442C>T	c.(442-444)CGT>TGT	p.R148C		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	148							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						TGAAGTCCACGAATTGCAAAA	0.373													A	104200659	G	A	104200659	3	1	172	1	0	0	0	0	1	0	0	0	10692	1058	37	1	1252	1	NT5DC3	12	104200659	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3206384	104200659	29651236	1221	94333											
ACACB	32	broad.mit.edu	37	chr12	109702084	109702084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggacctggagggccggCtaaaggctcgcgaggacctg	17	10	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:109702084C>T	uc001tob.2	+	50	6954	c.6835C>T	c.(6835-6837)CTA>TTA	p.L2279L	ACACB_uc001toc.2_Silent_p.L2279L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.L945L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2279	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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGAGGGCCGGCTAAAGGCTCG	0.612											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	109702084	C	T	109702084	2	4	172	1	0	0	0	0	0	0	0	1	107	796	28	2		2	ACACB	12	109702084	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	5501425	109702084	24149811	1222	94334											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110019240delC	uc001toy.3	+	5	596	c.412delC	c.(412-414)CCCfs	p.P138fs	MVK_uc009zvk.2_Frame_Shift_Del_p.P138fs|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	138	ATP (By similarity).				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GTCGGAGCTGCCCCCCGGGGC	0.667													-	110019240	C	-	110019240	7	5	172	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	317156	110019240	23832655	1223	94335											
TRPV4	59341	broad.mit.edu	37	chr12	110232159	110232159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagcggctggtagtagGcggtgagagtgaagatgacc	16	9	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110232159G>A	uc001tpj.1	-	7	1561	c.1466C>T	c.(1465-1467)GCC>GTC	p.A489V	TRPV4_uc001tpg.1_Missense_Mutation_p.A455V|TRPV4_uc001tph.1_Missense_Mutation_p.A442V|TRPV4_uc001tpi.1_Missense_Mutation_p.A382V|TRPV4_uc001tpk.1_Missense_Mutation_p.A489V|TRPV4_uc001tpl.1_Missense_Mutation_p.A429V	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	489	Extracellular (Potential).				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CTGGTAGTAGGCGGTGAGAGT	0.627													A	110232159	G	A	110232159	3	1	172	1	0	0	0	0	1	0	0	0	16595	1203	42	2	1185	2	TRPV4	12	110232159	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	212919	110232159	23619736	1224	94336											
TRPV4	59341	broad.mit.edu	37	chr12	110240832	110240832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggaagggcgagttaatgaActccctcatgttgccggtgc	13	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110240832A>G	uc001tpj.1	-	3	771	c.676T>C	c.(676-678)TTC>CTC	p.F226L	TRPV4_uc001tpg.1_Missense_Mutation_p.F192L|TRPV4_uc001tph.1_Missense_Mutation_p.F226L|TRPV4_uc001tpi.1_Missense_Mutation_p.F226L|TRPV4_uc001tpk.1_Missense_Mutation_p.F226L|TRPV4_uc001tpl.1_Missense_Mutation_p.F226L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	226	Cytoplasmic (Potential).				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GAGTTAATGAACTCCCTCATG	0.627													G	110240832	A	G	110240832	3	3	172	1	0	0	0	0	1	0	0	0	16595	43	2	3	1991	3	TRPV4	12	110240832	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	8673	110240832	23611063	1225	94337											
GLTP	51228	broad.mit.edu	37	chr12	110293442	110293442	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggaagatcttctgcacGatccagccatggtacttctt	8	12	3	1	rs138733952		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:110293442G>A	uc001tpm.2	-	4	543	c.429C>T	c.(427-429)ATC>ATT	p.I143I	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	143						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TCTTCTGCACGATCCAGCCAT	0.617													A	110293442	G	A	110293442	2	1	172	1	0	0	0	0	0	0	0	1	6471	1048	37	1		1	GLTP	12	110293442	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	52610	110293442	23558453	1226	94338											
CUX2	23316	broad.mit.edu	37	chr12	111785948	111785949	+	Frame_Shift_Ins	INS	-	-	C													tccccatccccacctggcgcINScccccctgccaaagtgccga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:111785947_111785948G>GC	uc001tsa.2	+	21	4433_4434	c.4279_4280G>GC	c.(4279-4281)gccfs	p.A1427fs		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1427	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A1427T(2)		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						CCCACCTGGCGCCCCCCCTGCC	0.658													C	111785949	-	C	111785948	7	5	172	1	0	1	1	0	0	0	0	0	4065	739	26	0	4366	0	CUX2	12	111785948	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1492506	111785948	22065947	1227	94339											
WSB2	55884	broad.mit.edu	37	chr12	118481123	118481123	+	Frame_Shift_Del	DEL	C	C	-													gcgtcttctcttttgggctgCcccgccctttcgtctcattt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:118481123delC	uc001twr.2	-	3	340	c.242delG	c.(241-243)GGCfs	p.G81fs	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Frame_Shift_Del_p.G81fs	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	81					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTGGGCTGCCCCGCCCTTT	0.542													-	118481123	C	-	118481123	7	5	172	1	0	1	0	1	0	0	0	0	17402	739	26	0	1000	0	WSB2	12	118481123	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	6695175	118481123	15370772	1228	94340											
SUDS3	64426	broad.mit.edu	37	chr12	118841306	118841306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatagaagatggcaaactgTactatgacaaaagatggtat	11	4	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:118841306T>C	uc001twz.2	+	10	926	c.787T>C	c.(787-789)TAC>CAC	p.Y263H		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	263					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCAAACTGTACTATGACAA	0.478													C	118841306	T	C	118841306	3	2	172	1	0	0	0	0	1	0	0	0	15366	1638	57	3	825	3	SUDS3	12	118841306	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	360183	118841306	15010589	1229	94341											
GCN1L1	10985	broad.mit.edu	37	chr12	120567103	120567103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacctcttcaccctgccGcatcttgaggaggttgacaa	8	13	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:120567103G>A	uc001txo.2	-	57	7880	c.7867C>T	c.(7867-7869)CGG>TGG	p.R2623W		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2623	HEAT 24.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCCTGCCGCATCTTGAGG	0.522													A	120567103	G	A	120567103	3	1	172	1	0	0	0	0	1	0	0	0	6299	1086	38	1	156	1	GCN1L1	12	120567103	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1725797	120567103	13284792	1230	94342											
PXN	5829	broad.mit.edu	37	chr12	120660799	120660799	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgatttctgcttgttgggGaagctttgagaggcaaagga	15	5	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:120660799G>A	uc001txt.2	-	4	491	c.360C>T	c.(358-360)TTC>TTT	p.F120F	PXN_uc001txv.2_5'UTR|PXN_uc001txx.2_5'UTR|PXN_uc001txy.2_Silent_p.F120F|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	120					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			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTGTTGGGGAAGCTTTGAG	0.532													A	120660799	G	A	120660799	2	1	172	1	0	0	0	0	0	0	0	1	12852	1165	41	4		4	PXN	12	120660799	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	93696	120660799	13191096	1231	94343											
GATC	283459	broad.mit.edu	37	chr12	120894950	120894950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attactacaaaactcccatcGcgtcgtggaggagtactttg	9	10	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:120894950G>A	uc010szi.1	+	3	326	c.326G>A	c.(325-327)CGC>CAC	p.R109H		NM_176818	NP_789788	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	109					regulation of translational fidelity						0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTCCCATCGCGTCGTGGAG	0.478											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	120894950	G	A	120894950	3	1	172	1	0	0	0	0	1	0	0	0	6262	1087	38	1	336	1	GATC	12	120894950	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	234151	120894950	12956945	1232	94344											
RHOF	54509	broad.mit.edu	37	chr12	122219030	122219030	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctggtgggattcatgacgtCatagcagatgagcacgaggt	15	7	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:122219030C>T	uc001ubb.2	-	3	350	c.295G>A	c.(295-297)GAC>AAC	p.D99N	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA|RHOF_uc001ubd.3_Missense_Mutation_p.D99N	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	99					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTCATGACGTCATAGCAGATG	0.637													T	122219030	C	T	122219030	3	4	172	1	0	0	0	0	1	0	0	0	13338	826	29	4	352	4	RHOF	12	122219030	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1324080	122219030	11632865	1233	94345											
WDR66	144406	broad.mit.edu	37	chr12	122395142	122395142	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaaactatcctcctgaCtgcactttaaaaggtgacct	5	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:122395142C>G	uc009zxk.2	+	11	1840	c.1698C>G	c.(1696-1698)GAC>GAG	p.D566E		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	566							calcium ion binding			ovary(1)|skin(1)	2	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)		ATCCTCCTGACTGCACTTTAA	0.378													G	122395142	C	G	122395142	3	3	172	1	0	0	0	0	1	0	0	0	17314	564	20	5	1736	5	WDR66	12	122395142	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	176112	122395142	11456753	1234	94346											
KNTC1	9735	broad.mit.edu	37	chr12	123073263	123073263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttttctaaaagttatTtggagagactacattagtta	6	5	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123073263T>C	uc001ucv.2	+	40	4062	c.3899T>C	c.(3898-3900)TTT>TCT	p.F1300S	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1300					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		TAAAAGTTATTTGGAGAGACT	0.269													C	123073263	T	C	123073263	3	2	172	1	0	0	0	0	1	0	0	0	8428	1841	64	3	4053	3	KNTC1	12	123073263	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	678121	123073263	10778632	1235	94347											
HIP1R	9026	broad.mit.edu	37	chr12	123333393	123333393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatccgggagattggagaCctgtgggtaggtccagccat	14	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123333393C>T	uc001udj.1	+	4	410	c.351C>T	c.(349-351)GAC>GAT	p.D117D	HIP1R_uc001udg.1_Silent_p.D105D|HIP1R_uc001udi.1_Silent_p.D117D|HIP1R_uc001udh.2_Silent_p.D117D	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	117	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	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)		AGATTGGAGACCTGTGGGTAG	0.637													T	123333393	C	T	123333393	2	4	172	1	0	0	0	0	0	0	0	1	7115	506	18	4		4	HIP1R	12	123333393	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	260130	123333393	10518502	1236	94348											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123706165	123706165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggtctttagatttgtacAgatttaattctgagatacaa	8	4	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123706165A>G	uc001uel.2	-	1	277	c.170T>C	c.(169-171)CTG>CCG	p.L57P	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	57					M phase of mitotic cell cycle	centriole|Golgi membrane					0	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)		AGATTTGTACAGATTTAATTC	0.443													G	123706165	A	G	123706165	3	3	172	1	0	0	0	0	1	0	0	0	9728	188	7	3	3005	3	MPHOSPH9	12	123706165	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	372772	123706165	10145730	1237	94349											
SNRNP35	11066	broad.mit.edu	37	chr12	123950369	123950369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtttttcaaagggctaCgccttcatcgaatacaagga	9	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:123950369C>T	uc001ufb.1	+	2	398	c.282C>T	c.(280-282)TAC>TAT	p.Y94Y	SNRNP35_uc010tar.1_Silent_p.Y99Y|SNRNP35_uc009zxz.2_Silent_p.Y99Y|SNRNP35_uc001ufc.1_Intron	NM_022717	NP_073208	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	94	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding				0						CAAAGGGCTACGCCTTCATCG	0.507													T	123950369	C	T	123950369	2	4	172	1	0	0	0	0	0	0	0	1	14855	547	19	1		1	SNRNP35	12	123950369	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	244204	123950369	9901526	1238	94350											
TCTN2	79867	broad.mit.edu	37	chr12	124191372	124191372	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtttattaaaattccTgcacagttaccccaccccct	4	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:124191372T>C	uc001ufp.2	+	16	1997	c.1869T>C	c.(1867-1869)CCT>CCC	p.P623P	TCTN2_uc009zya.2_Silent_p.P622P	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	623	Extracellular (Potential).				cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	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)		TTAAAATTCCTGCACAGTTAC	0.453													C	124191372	T	C	124191372	2	2	172	1	0	0	0	0	0	0	0	1	15720	1567	55	3		3	TCTN2	12	124191372	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	241003	124191372	9660523	1239	94351											
PIWIL1	9271	broad.mit.edu	37	chr12	130846109	130846109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgggcggaggtcaatcGcaggatttgttgccagcatc	14	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:130846109G>A	uc001uik.2	+	16	2023	c.1933G>A	c.(1933-1935)GCA>ACA	p.A645T	PIWIL1_uc001uij.1_Missense_Mutation_p.A645T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	645	RNA-binding (By similarity).|Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	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)		GAGGTCAATCGCAGGATTTGT	0.483													A	130846109	G	A	130846109	3	1	172	1	0	0	0	0	1	0	0	0	11957	1087	38	1	1991	1	PIWIL1	12	130846109	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6654737	130846109	3005786	1240	94352											
PIWIL1	9271	broad.mit.edu	37	chr12	130855728	130855729	+	Frame_Shift_Ins	INS	-	-	T													ctgtaattccaggtatgactINStttttatcgtgagccaggct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr12:130855727_130855728C>CT	uc001uik.3	+	19	2599_2600	c.2328_2329C>CT	c.(2326-2331)gactttfs	p.D776fs	PIWIL1_uc001uij.2_Frame_Shift_Ins_p.D776fs	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	776	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	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)		CCAGGTATGACTTTTTTATCGT	0.436													T	130855729	-	T	130855728	7	5	172	1	0	1	1	0	0	0	0	0	11957	1609	56	0	2403	0	PIWIL1	12	130855728	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	9619	130855728	2996167	1241	94353											
PARP4	143	broad.mit.edu	37	chr13	25030500	25030500	+	Frame_Shift_Del	DEL	T	T	-													tcgctttctttttctggatgTttttcaacccacattcttgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:25030500delT	uc001upl.2	-	21	2647	c.2541delA	c.(2539-2541)AAAfs	p.K847fs	PARP4_uc010tdc.1_Frame_Shift_Del_p.K847fs	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	847					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			ovary(3)|skin(1)	4		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)		TTTCTGGATGTTTTTCAACCC	0.398													-	25030500	T	-	25030500	7	5	172	1	0	1	0	1	0	0	0	0	11463	1722	60	0	2689	0	PARP4	13	25030500	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08		25030500	90139378	1242	94354											
PABPC3	5042	broad.mit.edu	37	chr13	25670687	25670687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataataaagcactgtatgaTacagtttctgcttttggtaa	7	5	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:25670687T>G	uc001upy.2	+	1	412	c.351T>G	c.(349-351)GAT>GAG	p.D117E		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	117	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		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)		CACTGTATGATACAGTTTCTG	0.393													G	25670687	T	G	25670687	3	3	172	1	0	0	0	0	1	0	0	0	11365	1403	49	5	353	5	PABPC3	13	25670687	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	640187	25670687	89499191	1243	94355											
NUPL1	9818	broad.mit.edu	37	chr13	25911075	25911075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttataccaggGccacagccatctctgggagt	8	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:25911075G>A	uc001uqi.2	+	14	1683	c.1437G>A	c.(1435-1437)GGG>GGA	p.G479G	NUPL1_uc001uqj.2_Silent_p.G467G	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	479	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					0		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)		TTATACCAGGGCCACAGCCAT	0.373													A	25911075	G	A	25911075	2	1	172	1	0	0	0	0	0	0	0	1	10774	1217	42	2		2	NUPL1	13	25911075	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	240388	25911075	89258803	1244	94356											
WASF3	10810	broad.mit.edu	37	chr13	27246073	27246074	+	Frame_Shift_Ins	INS	-	-	A													tttctttgacctctggaaagINSaaaaaatgctacaggacaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:27246073_27246074insA	uc001uqv.2	+	6	712_713	c.487_488insA	c.(487-489)GAAfs	p.E163fs	WASF3_uc001uqw.2_Frame_Shift_Ins_p.E163fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	163	Potential.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	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)		CCTCTGGAAAGAAAAAATGCTA	0.371													A	27246074	-	A	27246073	7	5	172	1	0	1	1	0	0	0	0	0	17251	943	33	0	501	0	WASF3	13	27246073	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1334998	27246073	87923805	1245	94357	466	2									
WASF3	10810	broad.mit.edu	37	chr13	27246074	27246075	+	Frame_Shift_Ins	INS	-	-	A													ttctttgacctctggaaagaINSaaaaatgctacaggacacag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:27246073_27246074G>GA	uc001uqv.3	+	5	712_713	c.487_488G>GA	c.(487-489)gaafs	p.E163fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.E163fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	163					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)		CCTCTGGAAAGAAAAAATGCTA	0.371													A	27246075	-	A	27246074	7	5	172	1	0	1	1	0	0	0	0	0	17251	246	9	0	502	0	WASF3	13	27246074	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	27246074	87923804	1246	94358	466	2									
FLT3	2322	broad.mit.edu	37	chr13	28601359	28601359	+	Frame_Shift_Del	DEL	A	A	-													tcaccatagcaacagtattcAaaaatcaagtaaattggtcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:28601359delA	uc001urw.2	-	17	2155	c.2073delT	c.(2071-2073)TTTfs	p.F691fs	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Del_p.F691fs	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	691	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	AACAGTATTCAAAAATCAAGT	0.328			Mis|O		AML|ALL								-	28601359	A	-	28601359	7	5	172	1	0	1	0	1	0	0	0	0	5942	127	5	0	940	0	FLT3	13	28601359	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	1355285	28601359	86568519	1247	94359											
SLC46A3	283537	broad.mit.edu	37	chr13	29286869	29286869	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcggtcatagccattcctgtCatcgtggtaaaaatcccaat	8	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:29286869C>A	uc001usi.2	-	2	1978	c.1008G>T	c.(1006-1008)ATG>ATT	p.M336I	SLC46A3_uc001usg.2_Missense_Mutation_p.M261I|SLC46A3_uc001usj.2_Missense_Mutation_p.M336I|SLC46A3_uc001ush.2_Missense_Mutation_p.M336I|SLC46A3_uc001usk.2_Missense_Mutation_p.M261I	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	336	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		CCATTCCTGTCATCGTGGTAA	0.373													A	29286869	C	A	29286869	3	1	172	1	0	0	0	0	1	0	0	0	14646	826	29	5	407	5	SLC46A3	13	29286869	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	685510	29286869	85883009	1248	94360											
NBEA	26960	broad.mit.edu	37	chr13	35716483	35716483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgcatacaaacactgTgactgtcaccacatacaaca	6	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:35716483T>C	uc001uvb.2	+	19	2620	c.2414T>C	c.(2413-2415)GTG>GCG	p.V805A		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	805						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		ACAAACACTGTGACTGTCACC	0.299													C	35716483	T	C	35716483	3	2	172	1	0	0	0	0	1	0	0	0	10187	1696	59	3	2484	3	NBEA	13	35716483	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6429614	35716483	79453395	1249	94361											
MAB21L1	4081	broad.mit.edu	37	chr13	36049859	36049859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtagctacatttgtctacCgcttgagccaccagcgtctg	10	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:36049859C>T	uc001uvc.2	-	1	974	c.417G>A	c.(415-417)GCG>GCA	p.A139A	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	139					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		ATTTGTCTACCGCTTGAGCCA	0.562													T	36049859	C	T	36049859	2	4	172	1	0	0	0	0	0	0	0	1	9141	639	23	1		1	MAB21L1	13	36049859	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	333376	36049859	79120019	1250	94362											
DCLK1	9201	broad.mit.edu	37	chr13	36700166	36700166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtagaagctgcagtgggCgctgtgcgtcgggctcggca	19	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:36700166C>T	uc001uvf.2	-	2	342	c.109G>A	c.(109-111)GCC>ACC	p.A37T		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	37					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			stomach(6)|ovary(2)|skin(1)	9		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)		CTGCAGTGGGCGCTGTGCGTC	0.607													T	36700166	C	T	36700166	3	4	172	1	0	0	0	0	1	0	0	0	4291	768	27	1	2148	1	DCLK1	13	36700166	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	650307	36700166	78469712	1251	94363											
C13orf36	400120	broad.mit.edu	37	chr13	37269461	37269461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccagagtatccaagcgaCgctggaagttctttcaccaa	8	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:37269461C>T	uc001uvt.3	+	2	692	c.246C>T	c.(244-246)GAC>GAT	p.D82D		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	82						integral to membrane				skin(1)	1						ATCCAAGCGACGCTGGAAGTT	0.453													T	37269461	C	T	37269461	2	4	172	1	0	0	0	0	0	0	0	1	1730	535	19	1		1	C13orf36	13	37269461	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	569295	37269461	77900417	1252	94364											
POSTN	10631	broad.mit.edu	37	chr13	38160400	38160400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagggcctccaatatgtcCgatgtgatggcagctgcctg	12	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:38160400C>T	uc001uwo.3	-	7	889	c.771G>A	c.(769-771)TCG>TCA	p.S257S	POSTN_uc001uwp.3_Silent_p.S257S|POSTN_uc001uwr.2_Silent_p.S257S|POSTN_uc001uwq.2_Silent_p.S257S|POSTN_uc010teu.1_Silent_p.S257S|POSTN_uc010tev.1_Silent_p.S257S|POSTN_uc010tew.1_Silent_p.S257S|POSTN_uc010tex.1_Silent_p.S172S	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	257	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		CCAATATGTCCGATGTGATGG	0.458													T	38160400	C	T	38160400	2	4	172	1	0	0	0	0	0	0	0	1	12259	639	23	1		1	POSTN	13	38160400	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	890939	38160400	77009478	1253	94365											
KBTBD6	89890	broad.mit.edu	37	chr13	41706053	41706053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgagttgcttgaagtTctgagctatataggactggg	15	5	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:41706053T>C	uc001uxu.1	-	1	884	c.595A>G	c.(595-597)AAC>GAC	p.N199D	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.N133D|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	199							protein binding			ovary(1)|skin(1)	2		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)		TGCTTGAAGTTCTGAGCTATA	0.562													C	41706053	T	C	41706053	3	2	172	1	0	0	0	0	1	0	0	0	7997	1783	62	3	1433	3	KBTBD6	13	41706053	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3545653	41706053	73463825	1254	94366											
AKAP11	11215	broad.mit.edu	37	chr13	42876041	42876041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcataacttgaatagtacAtcacttgaggccttgtcttt	7	8	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:42876041A>G	uc001uys.1	+	8	3334	c.3159A>G	c.(3157-3159)ACA>ACG	p.T1053T		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1053					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		TGAATAGTACATCACTTGAGG	0.428													G	42876041	A	G	42876041	2	3	172	1	0	0	0	0	0	0	0	1	447	204	8	3		3	AKAP11	13	42876041	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1169988	42876041	72293837	1255	94367											
ENOX1	55068	broad.mit.edu	37	chr13	43934001	43934001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaccagaaaggtaaatgGctttatcaaccatgaattcc	7	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:43934001G>A	uc001uza.3	-	7	875	c.575C>T	c.(574-576)GCC>GTC	p.A192V	ENOX1_uc001uzb.3_Missense_Mutation_p.A192V|ENOX1_uc001uzc.3_Missense_Mutation_p.A192V|ENOX1_uc010tfm.1_Missense_Mutation_p.A5V	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	192	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		AAGGTAAATGGCTTTATCAAC	0.368													A	43934001	G	A	43934001	3	1	172	1	0	0	0	0	1	0	0	0	5126	1203	42	2	1400	2	ENOX1	13	43934001	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1057960	43934001	71235877	1256	94368											
SPERT	220082	broad.mit.edu	37	chr13	46287374	46287374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacagcacccctcgctgcGcgcagcaggccgccctgccc	11	20	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46287374G>A	uc001van.1	+	3	294	c.214G>A	c.(214-216)GCG>ACG	p.A72T	SPERT_uc001vao.2_Missense_Mutation_p.A36T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	72						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		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)		CCCTCGCTGCGCGCAGCAGGC	0.652													A	46287374	G	A	46287374	3	1	172	1	0	0	0	0	1	0	0	0	15038	1087	38	1	224	1	SPERT	13	46287374	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2353373	46287374	68882504	1257	94369											
SPERT	220082	broad.mit.edu	37	chr13	46287395	46287395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcaggccgccctgcccCggctgagccgcaggatggcg	16	17	0	1	rs149478922		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46287395C>T	uc001van.1	+	3	315	c.235C>T	c.(235-237)CGG>TGG	p.R79W	SPERT_uc001vao.2_Missense_Mutation_p.R43W	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	79						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		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)		CGCCCTGCCCCGGCTGAGCCG	0.667													T	46287395	C	T	46287395	3	4	172	1	0	0	0	0	1	0	0	0	15038	643	23	1	245	1	SPERT	13	46287395	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	21	46287395	68882483	1258	94370											
ZC3H13	23091	broad.mit.edu	37	chr13	46543398	46543399	+	Frame_Shift_Ins	INS	-	-	G													aagagaagatagaggagaagINSgggtactaccaggagtcgtg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46543397_46543398A>AG	uc010tfw.1	-	12	3287_3288	c.3281_3282T>CT	c.(3280-3282)cctfs	p.P1094fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Ins_p.P1094fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.P1094fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1094							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)		ATAGAGGAGAAGGGGTACTACC	0.559													G	46543399	-	G	46543398	7	5	172	1	0	1	1	0	0	0	0	0	17562	1000	35	0	1429	0	ZC3H13	13	46543398	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	256003	46543398	68626480	1259	94371											
ZC3H13	23091	broad.mit.edu	37	chr13	46577338	46577338	+	Frame_Shift_Del	DEL	T	T	-													tctgtcctttccatctcttgTtttttcttctatcctgtctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:46577338delT	uc010tfw.1	-	7	886	c.880delA	c.(880-882)ACAfs	p.T294fs	ZC3H13_uc001vas.1_Frame_Shift_Del_p.T294fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.T294fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	294							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		CCATCTCTTGTTTTTTCTTCT	0.368													-	46577338	T	-	46577338	7	5	172	1	0	1	0	1	0	0	0	0	17562	1725	60	0	3854	0	ZC3H13	13	46577338	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	33940	46577338	68592540	1260	94372											
ITM2B	9445	broad.mit.edu	37	chr13	48830433	48830434	+	In_Frame_Ins	INS	-	-	GAA													agaaaatattaaaatctttgINSaagaagaagaagttgaattt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:48830432_48830433T>TGAA	uc001vbz.3	+	2	589_590	c.366_367T>TGAA	c.(364-369)tttgaa>ttTGAAaa	p.122_123FE>FE		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	122					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.I121I(1)		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)		TTAAAATCTTTGAAGAAGAAGA	0.401													GAA	48830434	-	GAA	48830433	7	5	172	1	0	1	1	0	0	0	0	0	7913	1291	45	0	377	0	ITM2B	13	48830433	In_Frame_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	2253095	48830433	66339445	1261	94373											
RB1	5925	broad.mit.edu	37	chr13	48919305	48919305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgttgaagaagtatgatgTattgtttgcactcttcagca	9	6	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:48919305T>C	uc001vcb.2	+	4	636	c.470T>C	c.(469-471)GTA>GCA	p.V157A	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	157					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.?(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		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)	AAGTATGATGTATTGTTTGCA	0.303		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)			C	48919305	T	C	48919305	3	2	172	1	0	0	0	0	1	0	0	0	13098	1638	57	3	484	3	RB1	13	48919305	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	88872	48919305	66250573	1262	94374											
SETDB2	83852	broad.mit.edu	37	chr13	50062611	50062611	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaaccccaagagggaCgatctacagcatgtcaaaga	9	10	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:50062611C>T	uc001vcz.2	+	13	2704	c.1798C>T	c.(1798-1800)CGA>TGA	p.R600*	SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.2_Nonsense_Mutation_p.R588*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	600	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			ovary(1)|central_nervous_system(1)	2		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)		CCAAGAGGGACGATCTACAGC	0.393													T	50062611	C	T	50062611	4	4	172	1	0	0	0	0	0	1	0	0	14139	528	19	1	1844	1	SETDB2	13	50062611	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1143306	50062611	65107267	1263	94375											
FAM124A	220108	broad.mit.edu	37	chr13	51854685	51854685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgagcactgctgtaccaAgccatacacctggcagcagc	10	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:51854685A>G	uc001vfg.1	+	4	1065	c.934A>G	c.(934-936)AGC>GGC	p.S312G	FAM124A_uc001vff.1_Missense_Mutation_p.S348G	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	312										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TGCTGTACCAAGCCATACACC	0.587													G	51854685	A	G	51854685	3	3	172	1	0	0	0	0	1	0	0	0	5425	72	3	3	1060	3	FAM124A	13	51854685	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1792074	51854685	63315193	1264	94376											
UTP14C	9724	broad.mit.edu	37	chr13	52603377	52603377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctccaaatgggaccctaTcatcctgaagaaccagcagg	8	14	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:52603377T>C	uc001vgb.2	+	2	972	c.437T>C	c.(436-438)ATC>ACC	p.I146T	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	146					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		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)		TGGGACCCTATCATCCTGAAG	0.498													C	52603377	T	C	52603377	3	2	172	1	0	0	0	0	1	0	0	0	17093	1435	50	3	439	3	UTP14C	13	52603377	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	748692	52603377	62566501	1265	94377											
PCDH8	5100	broad.mit.edu	37	chr13	53418897	53418897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggcagctgggcctggTagtaattgtccctgcgcaga	14	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:53418897T>C	uc001vhi.2	-	3	3214	c.3011A>G	c.(3010-3012)TAC>TGC	p.Y1004C	PCDH8_uc001vhj.2_Missense_Mutation_p.Y907C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1004	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		CTGGGCCTGGTAGTAATTGTC	0.587													C	53418897	T	C	53418897	3	2	172	1	0	0	0	0	1	0	0	0	11517	1638	57	3	205	3	PCDH8	13	53418897	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	815520	53418897	61750981	1266	94378											
PCDH8	5100	broad.mit.edu	37	chr13	53420526	53420526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgccctgaacacgcgaccGggtggctcctgcgagaggtc	15	14	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:53420526G>A	uc001vhi.2	-	1	2249	c.2046C>T	c.(2044-2046)CCC>CCT	p.P682P	PCDH8_uc001vhj.2_Silent_p.P682P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	682	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		ACACGCGACCGGGTGGCTCCT	0.701													A	53420526	G	A	53420526	2	1	172	1	0	0	0	0	0	0	0	1	11517	1103	39	1		1	PCDH8	13	53420526	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1629	53420526	61749352	1267	94379											
PCDH20	64881	broad.mit.edu	37	chr13	61987878	61987878	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggaggccaggctgaaGgagagaggggggttccactc	18	11	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:61987878G>T	uc001vid.3	-	2	718	c.354C>A	c.(352-354)TCC>TCA	p.S118S	PCDH20_uc010thj.1_Silent_p.S118S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	91	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCAGGCTGAAGGAGAGAGGGG	0.682													T	61987878	G	T	61987878	2	4	172	1	0	0	0	0	0	0	0	1	11515	987	35	5		5	PCDH20	13	61987878	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	8567352	61987878	53182000	1268	94380											
MYCBP2	23077	broad.mit.edu	37	chr13	77672481	77672481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttaaagtacttgaggtGcagacttcgaccacctcact	8	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77672481G>A	uc001vkf.2	-	57	8785	c.8694C>T	c.(8692-8694)TGC>TGT	p.C2898C	MYCBP2_uc010aev.2_Silent_p.C2302C|MYCBP2_uc001vkg.1_Silent_p.C421C|MYCBP2_uc010aew.2_Silent_p.C284C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACTTGAGGTGCAGACTTCGA	0.428													A	77672481	G	A	77672481	2	1	172	1	0	0	0	0	0	0	0	1	10018	1311	46	2		2	MYCBP2	13	77672481	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	15684603	77672481	37497397	1269	94381											
MYCBP2	23077	broad.mit.edu	37	chr13	77718664	77718664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaataagtcccatcatTattgacacggatcagcatat	6	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77718664T>C	uc001vkf.2	-	50	7196	c.7105A>G	c.(7105-7107)AAT>GAT	p.N2369D	MYCBP2_uc010aev.2_Missense_Mutation_p.N1773D	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2369	Filamin.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCCCATCATTATTGACACGG	0.368													C	77718664	T	C	77718664	3	2	172	1	0	0	0	0	1	0	0	0	10018	1754	61	3	6957	3	MYCBP2	13	77718664	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	46183	77718664	37451214	1270	94382											
MYCBP2	23077	broad.mit.edu	37	chr13	77765900	77765900	+	Frame_Shift_Del	DEL	C	C	-													gcccatgccacataccaccaCccagcttgcaggagaacagg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77765900delC	uc001vkf.2	-	29	3961	c.3870delG	c.(3868-3870)GGGfs	p.G1290fs	MYCBP2_uc010aev.2_Frame_Shift_Del_p.G694fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATACCACCACCCAGCTTGCA	0.443													-	77765900	C	-	77765900	7	5	172	1	0	1	0	1	0	0	0	0	10018	494	18	0	10276	0	MYCBP2	13	77765900	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	47236	77765900	37403978	1271	94383											
MYCBP2	23077	broad.mit.edu	37	chr13	77900654	77900654	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccctggtccctgtcaTtgagcgcagcggtataaatc	10	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:77900654T>A	uc001vkf.2	-	2	234	c.143A>T	c.(142-144)AAT>ATT	p.N48I	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCCCTGTCATTGAGCGCAGC	0.711													A	77900654	T	A	77900654	3	1	172	1	0	0	0	0	1	0	0	0	10018	1493	52	5	14111	5	MYCBP2	13	77900654	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	134754	77900654	37269224	1272	94384											
EDNRB	1910	broad.mit.edu	37	chr13	78474004	78474004	+	Frame_Shift_Del	DEL	T	T	-													agtctcttaccttaaagcagTttttgaatcttttgctcacc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:78474003_78474003GT>G	uc001vkp.1	-	6	1608	c.1455_1455AC>C	c.(1453-1455)aacfs	p.N485fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.N395fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.N395fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.N395fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	395					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)	CCTTAAAGCAGTTTTTGAATC	0.338													-	78474004	T	-	78474004	7	5	172	1	0	1	0	1	0	0	0	0	4920	1725	60	0	273	0	EDNRB	13	78474004	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	573350	78474004	36695874	1273	94385											
SLITRK1	114798	broad.mit.edu	37	chr13	84453749	84453749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcccaccacggtgaaggCggaggtgacaaacaccagca	12	13	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:84453749C>T	uc001vlk.2	-	1	2780	c.1894G>A	c.(1894-1896)GCC>ACC	p.A632T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	632	Helical; (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACGGTGAAGGCGGAGGTGACA	0.587													T	84453749	C	T	84453749	3	4	172	1	0	0	0	0	1	0	0	0	14742	768	27	1	200	1	SLITRK1	13	84453749	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	5979745	84453749	30716129	1274	94386											
SLITRK1	114798	broad.mit.edu	37	chr13	84455314	84455314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgttgatgtgcagcCttttcaccagctgcagcccc	10	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:84455314C>A	uc001vlk.2	-	1	1215	c.329G>T	c.(328-330)AGG>ATG	p.R110M		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	110	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GATGTGCAGCCTTTTCACCAG	0.438													A	84455314	C	A	84455314	3	1	172	1	0	0	0	0	1	0	0	0	14742	681	24	5	1765	5	SLITRK1	13	84455314	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1565	84455314	30714564	1275	94387											
GPC6	10082	broad.mit.edu	37	chr13	95034795	95034795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgctggaacgggcacaGcaaagccaggtgagggtgac	17	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:95034795G>T	uc001vlt.2	+	7	1912	c.1280G>T	c.(1279-1281)AGC>ATC	p.S427I		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	427						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	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)				AACGGGCACAGCAAAGCCAGG	0.552													T	95034795	G	T	95034795	3	4	172	1	0	0	0	0	1	0	0	0	6602	971	34	5	1306	5	GPC6	13	95034795	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	10579481	95034795	20135083	1276	94388											
LIG4	3981	broad.mit.edu	37	chr13	108862651	108862651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaatacagatttgtatAtctgctttgaatgcattatg	7	5	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:108862651A>G	uc001vqn.2	-	2	1239	c.966T>C	c.(964-966)GAT>GAC	p.D322D	LIG4_uc001vqo.2_Silent_p.D322D|LIG4_uc010agg.1_Silent_p.D255D|LIG4_uc010agf.2_Silent_p.D322D|LIG4_uc001vqp.2_Silent_p.D322D	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	322					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				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGATTTGTATATCTGCTTTGA	0.348								NHEJ					G	108862651	A	G	108862651	2	3	172	1	0	0	0	0	0	0	0	1	8783	446	16	3		3	LIG4	13	108862651	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	13827856	108862651	6307227	1277	94389											
ATP11A	23250	broad.mit.edu	37	chr13	113526106	113526106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgatggtgttcacagttAcactaaaggtaagtggtctc	11	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:113526106A>G	uc001vsi.3	+	26	3137	c.3049A>G	c.(3049-3051)ACA>GCA	p.T1017A	ATP11A_uc001vsj.3_Missense_Mutation_p.T1017A|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1017	Helical; (Potential).				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			large_intestine(2)|ovary(2)	4	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)				GTTCACAGTTACACTAAAGGT	0.478													G	113526106	A	G	113526106	3	3	172	1	0	0	0	0	1	0	0	0	1119	391	14	3	3151	3	ATP11A	13	113526106	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4663455	113526106	1643772	1278	94390											
PCID2	55795	broad.mit.edu	37	chr13	113851504	113851504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatattggactatcacgGtctggcacttgtatgcctct	10	9	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:113851504G>A	uc010tju.1	-	4	335	c.254C>T	c.(253-255)ACC>ATC	p.T85I	PCID2_uc010tjv.1_Missense_Mutation_p.T85I|PCID2_uc010tjw.1_Missense_Mutation_p.T85I|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	85					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACTATCACGGTCTGGCACTT	0.483													A	113851504	G	A	113851504	3	1	172	1	0	0	0	0	1	0	0	0	11579	1261	44	4	989	4	PCID2	13	113851504	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	325398	113851504	1318374	1279	94391											
FAM70B	348013	broad.mit.edu	37	chr13	114507949	114507949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcctacgcaggcttccGcctgacgcccgagcccgtcc	11	20	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr13:114507949G>A	uc001vuh.2	+	8	788	c.761G>A	c.(760-762)CGC>CAC	p.R254H		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	254						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GCAGGCTTCCGCCTGACGCCC	0.677													A	114507949	G	A	114507949	3	1	172	1	0	0	0	0	1	0	0	0	5606	1087	38	1	791	1	FAM70B	13	114507949	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	656445	114507949	661929	1280	94392											
RNASE9	390443	broad.mit.edu	37	chr14	21025060	21025060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttggtaggtggtctggCgggccctgtactaaaaaatt	12	7	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:21025060C>T	uc010aho.2	-	4	328	c.169G>A	c.(169-171)GCC>ACC	p.A57T	RNASE9_uc001vxq.3_Missense_Mutation_p.A62T|RNASE9_uc010ahp.2_Missense_Mutation_p.A62T|RNASE9_uc010ahq.2_Missense_Mutation_p.A62T|RNASE9_uc010ahr.2_Missense_Mutation_p.A62T|RNASE9_uc010ahs.2_Missense_Mutation_p.A57T|RNASE9_uc010aht.2_Missense_Mutation_p.A57T|RNASE9_uc010ahu.2_Missense_Mutation_p.A57T	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GGTGGTCTGGCGGGCCCTGTA	0.378													T	21025060	C	T	21025060	3	4	172	1	0	0	0	0	1	0	0	0	13410	768	27	1	452	1	RNASE9	14	21025060	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08		21025060	86324480	1281	94393											
RNASE2	6036	broad.mit.edu	37	chr14	21423932	21423932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcttacaggaaacaTggttccaaaactgttcactt	5	9	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:21423932T>C	uc010aif.2	+	2	71	c.2T>C	c.(1-3)ATG>ACG	p.M1T	RNASE2_uc001vyl.1_Missense_Mutation_p.M1T	NM_002934	NP_002925	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver,	1					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	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)		ACAGGAAACATGGTTCCAAAA	0.498													C	21423932	T	C	21423932	3	2	172	1	0	0	0	0	1	0	0	0	13404	1464	51	3	4	3	RNASE2	14	21423932	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	398872	21423932	85925608	1282	94394											
RNF31	55072	broad.mit.edu	37	chr14	24619849	24619849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagagtcaagtctggTactgtattcactgtaccttc	8	12	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:24619849T>C	uc001wmn.1	+	8	1489	c.1240T>C	c.(1240-1242)TAC>CAC	p.Y414H	RNF31_uc001wml.1_Missense_Mutation_p.Y263H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Y229H|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	414	Polyubiquitin-binding.|RanBP2-type 3.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		TCAAGTCTGGTACTGTATTCA	0.547													C	24619849	T	C	24619849	3	2	172	1	0	0	0	0	1	0	0	0	13487	1638	57	3	1270	3	RNF31	14	24619849	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3195917	24619849	82729691	1283	94395											
NYNRIN	57523	broad.mit.edu	37	chr14	24877215	24877215	+	Frame_Shift_Del	DEL	C	C	-													cttgcctacctggtgcctggCccccctggctccctgatggt					rs10148781	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:24877215delC	uc001wpf.3	+	3	657	c.339delC	c.(337-339)GGCfs	p.G113fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	113					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGGTGCCTGGCCCCCCTGGCT	0.657													-	24877215	C	-	24877215	7	5	172	1	0	1	0	1	0	0	0	0	10796	726	26	0	345	0	NYNRIN	14	24877215	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	257366	24877215	82472325	1284	94396											
CBLN3	643866	broad.mit.edu	37	chr14	24898055	24898055	+	Frame_Shift_Del	DEL	G	G	-													cagcaaatgccactcgcccaGggggtgcctctcccagggct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:24898054_24898054AG>A	uc001wpg.4	-	0	678	c.207_207CT>T	c.(205-207)cctfs	p.P69fs	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	69	C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CCACTCGCCCAGGGGGTGCCT	0.682													-	24898055	G	-	24898055	7	5	172	1	0	1	0	1	0	0	0	0	2706	1000	35	0	423	0	CBLN3	14	24898055	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	20840	24898055	82451485	1285	94397											
ARHGAP5	394	broad.mit.edu	37	chr14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-													gttactgacagccaagcagaTttttttgaaaatgaggctat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:32562545delT	uc001wrl.2	+	2	2909	c.2670delT	c.(2668-2670)GATfs	p.D890fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	890					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		GCCAAGCAGATTTTTTTGAAA	0.403													-	32562545	T	-	32562545	7	5	172	1	0	1	0	1	0	0	0	0	886	1490	52	0	2672	0	ARHGAP5	14	32562545	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	7664490	32562545	74786995	1286	94398			1	47		3	3	229	N	T_A	9.100087e-05
ARHGAP5	394	broad.mit.edu	37	chr14	32562675	32562675	+	Frame_Shift_Del	DEL	T	T	-													aaactgaggtctttactctgTtttttagtgatgttctagag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:32562675delT	uc001wrl.2	+	2	3039	c.2800delT	c.(2800-2802)TTTfs	p.F934fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.F934fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.F934fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	934					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		CTTTACTCTGTTTTTTAGTGA	0.333													-	32562675	T	-	32562675	7	5	172	1	0	1	0	1	0	0	0	0	886	1725	60	0	2802	0	ARHGAP5	14	32562675	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	130	32562675	74786865	1287	94399			1	47		3	3	229	N	T_A	9.100087e-05
ARHGAP5	394	broad.mit.edu	37	chr14	32562773	32562773	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgaagatgtttttctAccatctcccagagactgttt	7	9	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:32562773A>G	uc001wrl.2	+	2	3137	c.2898A>G	c.(2896-2898)CTA>CTG	p.L966L	ARHGAP5_uc001wrm.2_Silent_p.L966L|ARHGAP5_uc001wrn.2_Silent_p.L966L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	966					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		ATGTTTTTCTACCATCTCCCA	0.353													G	32562773	A	G	32562773	2	3	172	1	0	0	0	0	0	0	0	1	886	378	14	3		3	ARHGAP5	14	32562773	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	98	32562773	74786767	1288	94400			1	47		3	3	229	N	T_A	9.100087e-05
SNX6	58533	broad.mit.edu	37	chr14	35045035	35045035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcttcatcagcagacactCgtgcttctattttctgaaaa	7	10	5	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:35045035C>T	uc001wsf.1	-	11	892	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	SNX6_uc001wse.1_Missense_Mutation_p.R167Q|SNX6_uc010tpm.1_Missense_Mutation_p.R171Q|SNX6_uc010amm.1_Missense_Mutation_p.R171Q	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	283					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		AGCAGACACTCGTGCTTCTAT	0.284													T	35045035	C	T	35045035	3	4	172	1	0	0	0	0	1	0	0	0	14906	884	31	1	388	1	SNX6	14	35045035	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2482262	35045035	72304505	1289	94401											
BAZ1A	11177	broad.mit.edu	37	chr14	35227976	35227976	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtaccaattctacaacaagTtgttcaaaagcagacaattc	5	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:35227976T>C	uc001wsk.2	-	25	4888	c.4320A>G	c.(4318-4320)CAA>CAG	p.Q1440Q	BAZ1A_uc001wsl.2_Silent_p.Q1408Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1440					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		CTACAACAAGTTGTTCAAAAG	0.393													C	35227976	T	C	35227976	2	2	172	1	0	0	0	0	0	0	0	1	1329	1722	60	3		3	BAZ1A	14	35227976	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	182941	35227976	72121564	1290	94402											
MIPOL1	145282	broad.mit.edu	37	chr14	37754595	37754595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctagactgcaattagccaTtgaggagagagatgaagcaa	12	6	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:37754595T>C	uc001wuc.2	+	8	1069	c.566T>C	c.(565-567)ATT>ACT	p.I189T	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.I158T|MIPOL1_uc001wud.2_Missense_Mutation_p.I189T|MIPOL1_uc010ams.2_Missense_Mutation_p.I189T|MIPOL1_uc001wue.2_Missense_Mutation_p.I158T|MIPOL1_uc010amt.2_Missense_Mutation_p.I8T	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	189	Potential.									ovary(1)|central_nervous_system(1)	2	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)		CAATTAGCCATTGAGGAGAGA	0.378													C	37754595	T	C	37754595	3	2	172	1	0	0	0	0	1	0	0	0	9593	1493	52	3	584	3	MIPOL1	14	37754595	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2526619	37754595	69594945	1291	94403											
FANCM	57697	broad.mit.edu	37	chr14	45665536	45665536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctggattagaagtaatTtcttccctaagagcaattca	6	8	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:45665536T>C	uc001wwd.3	+	21	5601	c.5502T>C	c.(5500-5502)ATT>ATC	p.I1834I	FANCM_uc010anf.2_Silent_p.I1808I|FANCM_uc001wwe.3_Silent_p.I1370I|FANCM_uc010ang.2_Silent_p.I1083I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1834	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TAGAAGTAATTTCTTCCCTAA	0.423								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	45665536	T	C	45665536	2	2	172	1	0	0	0	0	0	0	0	1	5671	1829	64	3		3	FANCM	14	45665536	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	7910941	45665536	61684004	1292	94404											
POLE2	5427	broad.mit.edu	37	chr14	50131378	50131378	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgcctctgtgtataaAccactatggaactggtacac	8	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:50131378A>G	uc001wwu.2	-	9	662	c.648T>C	c.(646-648)GGT>GGC	p.G216G	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_5'UTR|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_5'UTR	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	216					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	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTGTGTATAAACCACTATGGA	0.363													G	50131378	A	G	50131378	2	3	172	1	0	0	0	0	0	0	0	1	12197	30	2	3		3	POLE2	14	50131378	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4465842	50131378	57218162	1293	94405											
DLGAP5	9787	broad.mit.edu	37	chr14	55650367	55650367	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccactttaaatattcctcGtttagctttctctctctgct	3	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:55650367G>A	uc001xbs.2	-	3	560	c.343C>T	c.(343-345)CGA>TGA	p.R115*	DLGAP5_uc001xbt.2_Nonsense_Mutation_p.R115*	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	115	Potential.				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			ovary(1)|skin(1)	2						AATATTCCTCGTTTAGCTTTC	0.338													A	55650367	G	A	55650367	4	1	172	1	0	0	0	0	0	1	0	0	4563	1153	40	1	2360	1	DLGAP5	14	55650367	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5518989	55650367	51699173	1294	94406											
C14orf101	54916	broad.mit.edu	37	chr14	57052589	57052589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcttctctgtggcttattTggagcagtagctgcatcatt	9	8	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:57052589T>C	uc001xcm.2	+	3	425	c.303T>C	c.(301-303)TTT>TTC	p.F101F	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Silent_p.F101F|C14orf101_uc010aot.1_Silent_p.F101F|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	101	Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		GTGGCTTATTTGGAGCAGTAG	0.393													C	57052589	T	C	57052589	2	2	172	1	0	0	0	0	0	0	0	1	1734	1809	63	3		3	C14orf101	14	57052589	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1402222	57052589	50296951	1295	94407											
ACTR10	55860	broad.mit.edu	37	chr14	58669640	58669640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgataaaaagagctgggatgCctaaggtatttaaaaaaaaa	9	3	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:58669640C>T	uc001xdf.2	+	2	248	c.145C>T	c.(145-147)CCT>TCT	p.P49S	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	49						cytoplasm				central_nervous_system(1)	1						AGCTGGGATGCCTAAGGTATT	0.279													T	58669640	C	T	58669640	3	4	172	1	0	0	0	0	1	0	0	0	208	739	26	2	151	2	ACTR10	14	58669640	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1617051	58669640	48679900	1296	94408											
TRMT5	57570	broad.mit.edu	37	chr14	61446155	61446156	+	Missense_Mutation	DNP	GC	GC	AT													gctctaaaacactgagttctGctttctcaaaggaatcatga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:61446155_61446156GC>AT	uc001xff.3	-	2	551_552	c.460_461GC>AT	c.(460-462)GCA>ATA	p.A154I	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	154						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		ACTGAGTTCTGCTTTCTCAAAG	0.356													AT	61446156	GC	AT	61446155	3	1	172	1	0	0	0	0	1	0	0	0	16564	1319	46	2	1084	2	TRMT5	14	61446155	Missense_Mutation	DNP	GC	TCGA-CG-4442-01A-01D-1158-08	2776515	61446155	45903385	1297	94409											
TRMT5	57570	broad.mit.edu	37	chr14	61446523	61446523	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggatgtccaagctactggAatcaacgattttgattcagt	10	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:61446523A>G	uc001xff.3	-	2	184	c.93T>C	c.(91-93)ATT>ATC	p.I31I	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	31						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AAGCTACTGGAATCAACGATT	0.368													G	61446523	A	G	61446523	2	3	172	1	0	0	0	0	0	0	0	1	16564	242	9	3		3	TRMT5	14	61446523	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	368	61446523	45903017	1298	94410											
ZBTB1	22890	broad.mit.edu	37	chr14	64988914	64988914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctgtgaaaaattatTagatgagcatgtgctaacct	8	6	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:64988914T>C	uc001xhh.3	+	4	1123	c.692T>C	c.(691-693)TTA>TCA	p.L231S	ZBTB1_uc010aqg.2_Missense_Mutation_p.L231S|ZBTB1_uc001xhi.2_Missense_Mutation_p.L231S	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	231	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		GAAAAATTATTAGATGAGCAT	0.373													C	64988914	T	C	64988914	3	2	172	1	0	0	0	0	1	0	0	0	17519	1764	61	3	694	3	ZBTB1	14	64988914	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3542391	64988914	42360626	1299	94411											
HSPA2	3306	broad.mit.edu	37	chr14	65008542	65008542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggagaaggcgctgcgCgacgccaagctggacaaggg	18	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:65008542C>T	uc001xhj.2	+	2	1051	c.975C>T	c.(973-975)CGC>CGT	p.R325R	HSPA2_uc001xhk.3_Silent_p.R325R	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	325					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AGGCGCTGCGCGACGCCAAGC	0.627													T	65008542	C	T	65008542	2	4	172	1	0	0	0	0	0	0	0	1	7411	755	27	1		1	HSPA2	14	65008542	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	19628	65008542	42340998	1300	94412											
GPHN	10243	broad.mit.edu	37	chr14	66975274	66975274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagggaatgatccttactaAccacgaccatcaaatccgtg	8	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:66975274A>G	uc001xiy.2	+	1	1150	c.29A>G	c.(28-30)AAC>AGC	p.N10S	GPHN_uc001xiw.2_Missense_Mutation_p.N10S|GPHN_uc001xix.2_Missense_Mutation_p.N10S|GPHN_uc010tss.1_Missense_Mutation_p.N10S|GPHN_uc010tst.1_Missense_Mutation_p.N10S|uc010tsr.1_5'Flank	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	10			N -> Y (in STHE; sporadic case).		Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCCTTACTAACCACGACCAT	0.622			T	MLL	AL								G	66975274	A	G	66975274	3	3	172	1	0	0	0	0	1	0	0	0	6610	43	2	3	31	3	GPHN	14	66975274	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1966732	66975274	40374266	1301	94413											
PNMA1	9240	broad.mit.edu	37	chr14	74179954	74179954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctctgggcccggggtcGgagtagggttctgaaaccca	15	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:74179954G>A	uc001xor.1	-	1	1175	c.389C>T	c.(388-390)CCG>CTG	p.P130L		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	130					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		gcccggggtcggagtagggtt	0													A	74179954	G	A	74179954	3	1	172	1	0	0	0	0	1	0	0	0	12153	1116	39	1	676	1	PNMA1	14	74179954	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	7204680	74179954	33169586	1302	94414											
DLST	1743	broad.mit.edu	37	chr14	75361033	75361033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaaatgaacaggatgCggcagcgcattgctcagcgt	14	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:75361033C>T	uc001xqv.2	+	10	754	c.691C>T	c.(691-693)CGG>TGG	p.R231W	DLST_uc001xqu.2_Missense_Mutation_p.R143W|DLST_uc001xqt.2_Missense_Mutation_p.R147W|DLST_uc010tuw.1_Missense_Mutation_p.R145W|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.R231W	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	231					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GAACAGGATGCGGCAGCGCAT	0.468													T	75361033	C	T	75361033	3	4	172	1	0	0	0	0	1	0	0	0	4569	759	27	1	729	1	DLST	14	75361033	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1181079	75361033	31988507	1303	94415											
FAM164C	79696	broad.mit.edu	37	chr14	75537864	75537864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactgttcttgctgccacGcaggcggagaaggccgtggc	16	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:75537864G>A	uc001xri.2	+	2	761	c.588G>A	c.(586-588)ACG>ACA	p.T196T	FAM164C_uc001xrh.2_Silent_p.T196T	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	196										ovary(1)	1						TTGCTGCCACGCAGGCGGAGA	0.542													A	75537864	G	A	75537864	2	1	172	1	0	0	0	0	0	0	0	1	5479	1074	38	1		1	FAM164C	14	75537864	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	176831	75537864	31811676	1304	94416											
BATF	10538	broad.mit.edu	37	chr14	75991481	75991481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaaaaatcgtattgccGcccagaagagccgacagagg	14	9	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:75991481G>A	uc001xrr.2	+	2	360	c.118G>A	c.(118-120)GCC>ACC	p.A40T		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	40	Basic motif.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		TCGTATTGCCGCCCAGAAGAG	0.527													A	75991481	G	A	75991481	3	1	172	1	0	0	0	0	1	0	0	0	1325	1087	38	1	124	1	BATF	14	75991481	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	453617	75991481	31358059	1305	94417											
TTLL5	23093	broad.mit.edu	37	chr14	76368497	76368497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcagagggtcctccgcGgaagggcagctgaatggact	15	9	1	2	rs142835737	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:76368497G>A	uc001xrx.2	+	31	3958	c.3753G>A	c.(3751-3753)GCG>GCA	p.A1251A	TTLL5_uc001xsa.2_Silent_p.A325A	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1251					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTCCTCCGCGGAAGGGCAGC	0.577													A	76368497	G	A	76368497	2	1	172	1	0	0	0	0	0	0	0	1	16727	1103	39	1		1	TTLL5	14	76368497	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	377016	76368497	30981043	1306	94418											
C14orf179	112752	broad.mit.edu	37	chr14	76549611	76549611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaccaaagtgctcgcGccggagcacgaagtccggga	12	15	1	0	rs143729954		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:76549611G>A	uc010asm.1	+	8	520	c.486G>A	c.(484-486)GCG>GCA	p.A162A	C14orf179_uc001xsg.2_Silent_p.A167A|C14orf179_uc010tve.1_RNA	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN	hypothetical protein LOC112752 isoform 2	162					cilium morphogenesis|intraflagellar retrograde transport						0				BRCA - Breast invasive adenocarcinoma(234;0.0199)		AAGTGCTCGCGCCGGAGCACG	0.582													A	76549611	G	A	76549611	2	1	172	1	0	0	0	0	0	0	0	1	1762	1074	38	1		1	C14orf179	14	76549611	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	181114	76549611	30799929	1307	94419											
C14orf4	64207	broad.mit.edu	37	chr14	77493111	77493111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttctccttcaactcgCgctcctggtctgtgctcgac	9	16	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:77493111C>T	uc001xsy.2	-	1	1924	c.1025G>A	c.(1024-1026)CGC>CAC	p.R342H		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	342	Potential.					nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CTTCAACTCGCGCTCCTGGTC	0.677													T	77493111	C	T	77493111	3	4	172	1	0	0	0	0	1	0	0	0	1773	768	27	1	1369	1	C14orf4	14	77493111	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	943500	77493111	29856429	1308	94420											
NRXN3	9369	broad.mit.edu	37	chr14	79181267	79181267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactatggctacgtgggctGcatccgcgacctattcattg	10	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:79181267G>A	uc001xun.2	+	5	1201	c.710G>A	c.(709-711)TGC>TAC	p.C237Y	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.C371Y	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	610	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TACGTGGGCTGCATCCGCGAC	0.572													A	79181267	G	A	79181267	3	1	172	1	0	0	0	0	1	0	0	0	10667	1319	46	2	720	2	NRXN3	14	79181267	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1688156	79181267	28168273	1309	94421											
TSHR	7253	broad.mit.edu	37	chr14	81422185	81422185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcttaccgcccagtaCgcagactctgtgagtacccg	9	17	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81422185C>T	uc001xvd.1	+	1	317	c.161C>T	c.(160-162)ACG>ATG	p.T54M	C14orf145_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.T54M|TSHR_uc001xvc.2_Missense_Mutation_p.T54M|TSHR_uc010tvs.1_Missense_Mutation_p.T54M	NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	54	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCGCCCAGTACGCAGACTCTG	0.567			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						T	81422185	C	T	81422185	3	4	172	1	0	0	0	0	1	0	0	0	16619	536	19	1	163	1	TSHR	14	81422185	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2240918	81422185	25927355	1310	94422											
TSHR	7253	broad.mit.edu	37	chr14	81610680	81610680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaatctcagaagagtatAtgcaaacggttttgtaagtt	9	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81610680A>G	uc001xvd.1	+	10	2434	c.2278A>G	c.(2278-2280)ATG>GTG	p.M760V		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	760	Cytoplasmic (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGAAGAGTATATGCAAACGGT	0.413			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						G	81610680	A	G	81610680	3	3	172	1	0	0	0	0	1	0	0	0	16619	449	16	3	2453	3	TSHR	14	81610680	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	188495	81610680	25738860	1311	94423											
GTF2A1	2957	broad.mit.edu	37	chr14	81670341	81670341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgatggtggtgatgCtgctgctgctggggttgatg	19	4	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81670341C>A	uc001xvf.1	-	3	672	c.240G>T	c.(238-240)CAG>CAT	p.Q80H	GTF2A1_uc010atb.1_Missense_Mutation_p.Q30H|GTF2A1_uc001xvg.1_Missense_Mutation_p.Q41H|GTF2A1_uc001xvh.1_Missense_Mutation_p.Q41H|SNORA79_uc001xvi.1_5'Flank	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	80	Poly-Gln.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ggtggtgatgctgctgctgct	0.249													A	81670341	C	A	81670341	3	1	172	1	0	0	0	0	1	0	0	0	6852	796	28	5	918	5	GTF2A1	14	81670341	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	59661	81670341	25679199	1312	94424											
STON2	85439	broad.mit.edu	37	chr14	81743536	81743536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccagttgacatcctcaGccagctctgcacctccacct	7	17	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81743536G>A	uc010tvu.1	-	4	2320	c.2119C>T	c.(2119-2121)CTG>TTG	p.L707L	STON2_uc001xvk.1_Silent_p.L707L|STON2_uc010tvt.1_Silent_p.L504L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	707	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GACATCCTCAGCCAGCTCTGC	0.557													A	81743536	G	A	81743536	2	1	172	1	0	0	0	0	0	0	0	1	15317	962	34	2		2	STON2	14	81743536	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	73195	81743536	25606004	1313	94425											
STON2	85439	broad.mit.edu	37	chr14	81837500	81837500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggagtcaaaggaagggcAtgtccagcagggcatggtca	16	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:81837500A>G	uc010tvu.1	-	3	604	c.403T>C	c.(403-405)TGC>CGC	p.C135R	STON2_uc001xvk.1_Missense_Mutation_p.C135R	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	135					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAGGAAGGGCATGTCCAGCAG	0.473													G	81837500	A	G	81837500	3	3	172	1	0	0	0	0	1	0	0	0	15317	217	8	3	2324	3	STON2	14	81837500	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	93964	81837500	25512040	1314	94426											
EML5	161436	broad.mit.edu	37	chr14	89082574	89082575	+	Frame_Shift_Ins	INS	-	-	T													ggcgaatgacccaagaacctINStttgtgttttgcctaaaaaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:89082573_89082574C>CT	uc021ryf.1	-	41	6058_6059	c.5809_5810G>AG	c.(5809-5811)aggfs	p.R1937fs	EML5_uc001xxf.3_Frame_Shift_Ins_p.R724fs|EML5_uc021ryg.1_Frame_Shift_Ins_p.R1937fs|EML5_uc001xxd.3_Frame_Shift_Ins_p.R102fs|EML5_uc001xxe.3_Frame_Shift_Ins_p.R286fs	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1929						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						ACCCAAGAACCTTTTGTGTTTT	0.416													T	89082575	-	T	89082574	7	5	172	1	0	1	1	0	0	0	0	0	5100	1608	56	0	132	0	EML5	14	89082574	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	7245074	89082574	18266966	1315	94427											
CCDC88C	440193	broad.mit.edu	37	chr14	91770131	91770131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgagggcctcgtactcGgccgattgccgctcgtgcag	15	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:91770131G>A	uc010aty.2	-	20	3648	c.3549C>T	c.(3547-3549)GCC>GCT	p.A1183A		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1183	Potential.				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			ovary(3)	3		all_cancers(154;0.0468)				CCTCGTACTCGGCCGATTGCC	0.642													A	91770131	G	A	91770131	2	1	172	1	0	0	0	0	0	0	0	1	2865	1103	39	1		1	CCDC88C	14	91770131	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2687557	91770131	15579409	1316	94428											
CPSF2	53981	broad.mit.edu	37	chr14	92597333	92597333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggaccaaaaaaaatgaCgtctattatcaaattaacta	4	7	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:92597333C>T	uc001yah.1	+	3	242	c.5C>T	c.(4-6)ACG>ATG	p.T2M		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	2					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			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAAAAAATGACGTCTATTATC	0.343													T	92597333	C	T	92597333	3	4	172	1	0	0	0	0	1	0	0	0	3825	536	19	1	7	1	CPSF2	14	92597333	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	827202	92597333	14752207	1317	94429											
C14orf109	26175	broad.mit.edu	37	chr14	93652935	93652935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtatcatccctatatgCttggcagttatttgcaatcg	7	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:93652935C>T	uc010auo.2	+	2	787	c.429C>T	c.(427-429)TGC>TGT	p.C143C	MOAP1_uc001ybj.2_5'Flank|C14orf109_uc001ybk.3_Silent_p.C105C	NM_001098621	NP_001092091	Q8N6I4	CN109_HUMAN	hypothetical protein LOC26175 isoform 1	137						integral to membrane					0		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCCCTATATGCTTGGCAGTTA	0.403													T	93652935	C	T	93652935	2	4	172	1	0	0	0	0	0	0	0	1	1739	805	28	2		2	C14orf109	14	93652935	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1055602	93652935	13696605	1318	94430											
GSC	145258	broad.mit.edu	37	chr14	95235311	95235311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctccactttctcctcgCggaggtgcactttccgggcc	9	17	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:95235311C>T	uc001ydu.2	-	2	746	c.599G>A	c.(598-600)CGC>CAC	p.R200H		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	200	Homeobox.				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TTTCTCCTCGCGGAGGTGCAC	0.682													T	95235311	C	T	95235311	3	4	172	1	0	0	0	0	1	0	0	0	6814	768	27	1	182	1	GSC	14	95235311	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1582376	95235311	12114229	1319	94431											
DICER1	23405	broad.mit.edu	37	chr14	95590985	95590985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccagaactaccaatacGgcacgacagtctgatagtat	9	11	1	2	rs142397473	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:95590985G>A	uc001ydw.2	-	9	1106	c.924C>T	c.(922-924)GCC>GCT	p.A308A	DICER1_uc001ydv.2_Silent_p.A298A|DICER1_uc001ydx.2_Silent_p.A308A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	308	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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTACCAATACGGCACGACAGT	0.383			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				A	95590985	G	A	95590985	2	1	172	1	0	0	0	0	0	0	0	1	4521	1103	39	1		1	DICER1	14	95590985	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	355674	95590985	11758555	1320	94432											
CLMN	79789	broad.mit.edu	37	chr14	95669231	95669231	+	Frame_Shift_Del	DEL	G	G	-													cctttgctggtggtcctcatGgggggccagtggagcgggtt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:95669230_95669230TG>T	uc001yef.2	-	8	2572	c.2456_2456CA>A	c.(2455-2457)catfs	p.H819fs		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	819						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)		GTGGTCCTCATGGGGGGCCAG	0.612													-	95669231	G	-	95669231	7	5	172	1	0	1	0	1	0	0	0	0	3542	1348	47	0	573	0	CLMN	14	95669231	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	78246	95669231	11680309	1321	94433											
ATG2B	55102	broad.mit.edu	37	chr14	96797967	96797967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactgaaacagatctagaTgggagagctaaaatacaagt	9	7	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:96797967T>C	uc001yfi.2	-	11	1841	c.1476A>G	c.(1474-1476)CCA>CCG	p.P492P		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	492										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGATCTAGATGGGAGAGCTA	0.279													C	96797967	T	C	96797967	2	2	172	1	0	0	0	0	0	0	0	1	1094	1451	51	3		3	ATG2B	14	96797967	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1128736	96797967	10551573	1322	94434											
BEGAIN	57596	broad.mit.edu	37	chr14	101005631	101005631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgtgcaggctcacgcGctcctggaaatccgagggca	12	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:101005631G>A	uc010txa.1	-	6	603	c.457C>T	c.(457-459)CGC>TGC	p.R153C	BEGAIN_uc001yhp.2_Missense_Mutation_p.R89C|BEGAIN_uc001yhq.2_Missense_Mutation_p.R153C	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	153						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				AGGCTCACGCGCTCCTGGAAA	0.672													A	101005631	G	A	101005631	3	1	172	1	0	0	0	0	1	0	0	0	1397	1087	38	1	1328	1	BEGAIN	14	101005631	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4207664	101005631	6343909	1323	94435											
RTL1	388015	broad.mit.edu	37	chr14	101347381	101347381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcttgcaggccgtcatGcaggccacactgacggtaac	13	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:101347381G>A	uc010txj.1	-	1	3804	c.3745C>T	c.(3745-3747)CAT>TAT	p.H1249Y	MIR431_hsa-mir-431|MI0001721_RNA|MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1249										pancreas(1)	1						AGGCCGTCATGCAGGCCACAC	0.632													A	101347381	G	A	101347381	3	1	172	1	0	0	0	0	1	0	0	0	13724	1319	46	2	335	2	RTL1	14	101347381	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	341750	101347381	6002159	1324	94436											
RTL1	388015	broad.mit.edu	37	chr14	101348236	101348236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgcccggggagaagtaCggtgagcctgtcattattca	12	10	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:101348236C>T	uc010txj.1	-	1	2949	c.2890G>A	c.(2890-2892)GTA>ATA	p.V964I	MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	964										pancreas(1)	1						GGGAGAAGTACGGTGAGCCTG	0.552													T	101348236	C	T	101348236	3	4	172	1	0	0	0	0	1	0	0	0	13724	536	19	1	1190	1	RTL1	14	101348236	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	855	101348236	6001304	1325	94437											
MARK3	4140	broad.mit.edu	37	chr14	103941357	103941357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctattccttctgttgtggCgtatccgaaaaggagtcaga	11	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:103941357C>T	uc001ymz.3	+	13	1958	c.1292C>T	c.(1291-1293)GCG>GTG	p.A431V	MARK3_uc001ymx.3_Missense_Mutation_p.A431V|MARK3_uc001ymw.3_Missense_Mutation_p.A431V|MARK3_uc001yna.3_Missense_Mutation_p.A415V|MARK3_uc001ymy.3_Missense_Mutation_p.A352V|MARK3_uc010awp.2_Missense_Mutation_p.A454V|MARK3_uc010tyb.1_Missense_Mutation_p.A226V|MARK3_uc010awq.2_5'UTR	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	431							ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			TCTGTTGTGGCGTATCCGAAA	0.398													T	103941357	C	T	103941357	3	4	172	1	0	0	0	0	1	0	0	0	9314	768	27	1	1342	1	MARK3	14	103941357	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2593121	103941357	3408183	1326	94438											
MARK3	4140	broad.mit.edu	37	chr14	103941521	103941521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaggcggatattcctgaaCgcaagaaaagctccactgtc	9	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:103941521C>T	uc001ymz.3	+	13	2122	c.1456C>T	c.(1456-1458)CGC>TGC	p.R486C	MARK3_uc001ymx.3_Missense_Mutation_p.R486C|MARK3_uc001ymw.3_Missense_Mutation_p.R486C|MARK3_uc001yna.3_Missense_Mutation_p.R470C|MARK3_uc001ymy.3_Missense_Mutation_p.R407C|MARK3_uc010awp.2_Missense_Mutation_p.R509C|MARK3_uc010tyb.1_Missense_Mutation_p.R281C|MARK3_uc010awq.2_Missense_Mutation_p.R16C	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	486							ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			TATTCCTGAACGCAAGAAAAG	0.478													T	103941521	C	T	103941521	3	4	172	1	0	0	0	0	1	0	0	0	9314	536	19	1	1506	1	MARK3	14	103941521	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	164	103941521	3408019	1327	94439											
KIF26A	26153	broad.mit.edu	37	chr14	104633326	104633326	+	Frame_Shift_Del	DEL	C	C	-													agctgtggccgcccccggcgCccccctgcctgctcagggcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:104633326delC	uc001yos.3	+	5	1054	c.1054delC	c.(1054-1056)CCCfs	p.P352fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	352					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCCCCGGCGCCCCCCTGCCT	0.731													-	104633326	C	-	104633326	7	5	172	1	0	1	0	1	0	0	0	0	8294	739	26	0	1072	0	KIF26A	14	104633326	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	691805	104633326	2716214	1328	94440											
KIF26A	26153	broad.mit.edu	37	chr14	104639382	104639382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgtgccctgcgccatcTcctggctcttcaggctcatc	9	17	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:104639382T>C	uc001yos.3	+	8	1489	c.1489T>C	c.(1489-1491)TCC>CCC	p.S497P		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	497	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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGCGCCATCTCCTGGCTCTT	0.687													C	104639382	T	C	104639382	3	2	172	1	0	0	0	0	1	0	0	0	8294	1551	54	3	1519	3	KIF26A	14	104639382	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	6056	104639382	2710158	1329	94441											
ADSSL1	122622	broad.mit.edu	37	chr14	105206963	105206963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaccaagaagggaatcGgaccaacctactcttccaaa	7	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105206963G>A	uc001ypd.2	+	6	576	c.502G>A	c.(502-504)GGA>AGA	p.G168R	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.G211R|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	168					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		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)	GAAGGGAATCGGACCAACCTA	0.567													A	105206963	G	A	105206963	3	1	172	1	0	0	0	0	1	0	0	0	348	1117	39	1	849	1	ADSSL1	14	105206963	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	567581	105206963	2142577	1330	94442											
KIAA0284	283638	broad.mit.edu	37	chr14	105353032	105353032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcggctccaggggatgGggagggcctagggcagacag	20	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105353032G>T	uc010axb.2	+	12	2680	c.2456G>T	c.(2455-2457)GGG>GTG	p.G819V	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.G749V|KIAA0284_uc001yps.2_Missense_Mutation_p.G725V|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	819						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCAGGGGATGGGGAGGGCCTA	0.642													T	105353032	G	T	105353032	3	4	172	1	0	0	0	0	1	0	0	0	8166	1232	43	5	2498	5	KIAA0284	14	105353032	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	146069	105353032	1996508	1331	94443											
AHNAK2	113146	broad.mit.edu	37	chr14	105419601	105419601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggacctccaggtcagcGgaaggggtctggacgctgag	16	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105419601G>A	uc010axc.1	-	7	2307	c.2187C>T	c.(2185-2187)TCC>TCT	p.S729S	AHNAK2_uc001ypx.2_Silent_p.S629S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	729						nucleus				ovary(1)	1		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)			CCAGGTCAGCGGAAGGGGTCT	0.652													A	105419601	G	A	105419601	2	1	172	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105419601	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	66569	105419601	1929939	1332	94444											
MTA1	9112	broad.mit.edu	37	chr14	105930432	105930432	+	Frame_Shift_Del	DEL	G	G	-													gccggtgtggtgaacggcacGggggcgccgggccagagccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr14:105930432delG	uc001yqx.2	+	13	1327	c.1140delG	c.(1138-1140)ACGfs	p.T380fs	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Frame_Shift_Del_p.T141fs	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	380					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		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)		TGAACGGCACGGGGGCGCCGG	0.642													-	105930432	G	-	105930432	7	5	172	1	0	1	0	1	0	0	0	0	9908	1103	39	0	1190	0	MTA1	14	105930432	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	510831	105930432	1419108	1333	94445											
MKRN3	7681	broad.mit.edu	37	chr15	23811911	23811911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaaccccaatgaccgcCgctttggcattctttccaat	7	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:23811911C>T	uc001ywh.3	+	1	1458	c.982C>T	c.(982-984)CGC>TGC	p.R328C	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R328C	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	328	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		CAATGACCGCCGCTTTGGCAT	0.493													T	23811911	C	T	23811911	3	4	172	1	0	0	0	0	1	0	0	0	9608	652	23	1	984	1	MKRN3	15	23811911	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08		23811911	78719481	1334	94446											
MAGEL2	54551	broad.mit.edu	37	chr15	23890382	23890382	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatattgggctgtgggacCcatggaactgcaggcagggc	15	9	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:23890382C>A	uc001ywj.3	-	1	794	c.699G>T	c.(697-699)TGG>TGT	p.W233C		NM_019066	NP_061939			MAGE-like protein 2												0		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)		GCTGTGGGACCCATGGAACTG	0.587													A	23890382	C	A	23890382	3	1	172	1	0	0	0	0	1	0	0	0	9189	624	22	5	1245	5	MAGEL2	15	23890382	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	78471	23890382	78641010	1335	94447											
UBE3A	7337	broad.mit.edu	37	chr15	25601091	25601091	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccattttcctttagatcaTacatcattgggttaccaaaa	4	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:25601091T>C	uc001zaq.2	-	7	2081	c.2081A>G	c.(2080-2082)TAT>TGT	p.Y694C	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.Y671C|UBE3A_uc001zas.2_Missense_Mutation_p.Y691C|UBE3A_uc001zat.2_Missense_Mutation_p.Y671C	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	694					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		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)		CTTTAGATCATACATCATTGG	0.308													C	25601091	T	C	25601091	3	2	172	1	0	0	0	0	1	0	0	0	16876	1406	49	3	566	3	UBE3A	15	25601091	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1710709	25601091	76930301	1336	94448											
ATP10A	57194	broad.mit.edu	37	chr15	25972394	25972394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatacagcccggcctTtttcccgttgtcatgtatgc	7	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:25972394T>C	uc010ayu.2	-	4	866	c.760A>G	c.(760-762)AAG>GAG	p.K254E		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	254	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		AGCCCGGCCTTTTTCCCGTTG	0.562													C	25972394	T	C	25972394	3	2	172	1	0	0	0	0	1	0	0	0	1116	1850	64	3	3811	3	ATP10A	15	25972394	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	371303	25972394	76558998	1337	94449											
HERC2	8924	broad.mit.edu	37	chr15	28447365	28447365	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgtatgtcggagtggTccagcagccacccgaccaag	12	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:28447365T>A	uc001zbj.2	-	47	7617	c.7511A>T	c.(7510-7512)GAC>GTC	p.D2504V	HERC2_uc001zbk.1_Missense_Mutation_p.D39V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2504					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		GTCGGAGTGGTCCAGCAGCCA	0.587													A	28447365	T	A	28447365	3	1	172	1	0	0	0	0	1	0	0	0	7058	1667	58	5	7181	5	HERC2	15	28447365	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2474971	28447365	74084027	1338	94450											
HERC2	8924	broad.mit.edu	37	chr15	28465618	28465618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagtcatcctctgtgtccGaatcctctgctgagggctgt	11	12	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:28465618G>A	uc001zbj.2	-	37	5931	c.5825C>T	c.(5824-5826)TCG>TTG	p.S1942L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1942					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CTCTGTGTCCGAATCCTCTGC	0.577													A	28465618	G	A	28465618	3	1	172	1	0	0	0	0	1	0	0	0	7058	1059	37	1	8907	1	HERC2	15	28465618	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	18253	28465618	74065774	1339	94451											
HERC2	8924	broad.mit.edu	37	chr15	28474843	28474844	+	Frame_Shift_Ins	INS	-	-	T													tttagtaggcactttctcatINStttttccacatccactggct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:28474842_28474843A>AT	uc001zbj.3	-	31	5066_5067	c.4960_4961T>AT	c.(4960-4962)atgfs	p.M1654fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1654					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)		GCACTTTCTCATTTTTTCCACA	0.396													T	28474844	-	T	28474843	7	5	172	1	0	1	1	0	0	0	0	0	7058	1493	52	0	9792	0	HERC2	15	28474843	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	9225	28474843	74056549	1340	94452											
RYR3	6263	broad.mit.edu	37	chr15	34150026	34150026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtggtttatctctatActgtggtggctttcaacttc	10	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:34150026A>G	uc001zhi.2	+	99	14123	c.14053A>G	c.(14053-14055)ACT>GCT	p.T4685A	RYR3_uc010bar.2_Missense_Mutation_p.T4680A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4685	Helical; Name=M8; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TTATCTCTATACTGTGGTGGC	0.498													G	34150026	A	G	34150026	3	3	172	1	0	0	0	0	1	0	0	0	13770	391	14	3	14447	3	RYR3	15	34150026	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	5675183	34150026	68381366	1341	94453											
ZNF770	54989	broad.mit.edu	37	chr15	35273809	35273809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgaataactgcaaaaAggattgctttgctctgattc	8	8	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:35273809A>G	uc001ziw.2	-	3	2138	c.1827T>C	c.(1825-1827)CCT>CCC	p.P609P		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		AACTGCAAAAAGGATTGCTTT	0.423													G	35273809	A	G	35273809	2	3	172	1	0	0	0	0	0	0	0	1	18140	59	3	3		3	ZNF770	15	35273809	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1123783	35273809	67257583	1342	94454											
EIF2AK4	440275	broad.mit.edu	37	chr15	40301865	40301865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatgttattgaaagcaatActcttacactgtgggatccc	7	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:40301865A>G	uc001zkm.1	+	26	3677	c.3627A>G	c.(3625-3627)ATA>ATG	p.I1209M	EIF2AK4_uc010bbj.1_Missense_Mutation_p.I910M|EIF2AK4_uc001zkn.1_Missense_Mutation_p.I309M|EIF2AK4_uc001zko.1_Missense_Mutation_p.I147M|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1209	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		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)		TGAAAGCAATACTCTTACACT	0.308													G	40301865	A	G	40301865	3	3	172	1	0	0	0	0	1	0	0	0	4999	381	14	3	3729	3	EIF2AK4	15	40301865	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	5028056	40301865	62229527	1343	94455											
GANC	2595	broad.mit.edu	37	chr15	42632010	42632010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttggggaggaacacAcccgactcatccgagaagcc	12	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:42632010A>G	uc001zpi.2	+	17	2301	c.1987A>G	c.(1987-1989)ACC>GCC	p.T663A		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	663					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		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)		GGAGGAACACACCCGACTCAT	0.572													G	42632010	A	G	42632010	3	3	172	1	0	0	0	0	1	0	0	0	6234	159	6	3	2053	3	GANC	15	42632010	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2330145	42632010	59899382	1344	94456											
MFAP1	4236	broad.mit.edu	37	chr15	44106833	44106834	+	Frame_Shift_Ins	INS	-	-	T													ccatgacttccatctcttcaINSttttttctctcctgtgctcg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:44106833_44106834insT	uc001zth.1	-	4	666_667	c.482_483insA	c.(481-483)AATfs	p.N161fs		NM_005926	NP_005917	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	161						microfibril				skin(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;4.33e-07)		CCATCTCTTCATTTTTTCTCTC	0.46													T	44106834	-	T	44106833	7	5	172	1	0	1	1	0	0	0	0	0	9513	214	8	0	860	0	MFAP1	15	44106833	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1474823	44106833	58424559	1345	94457	467	2									
MFAP1	4236	broad.mit.edu	37	chr15	44106834	44106835	+	Frame_Shift_Ins	INS	-	-	T													catgacttccatctcttcatINStttttctctcctgtgctcgc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:44106833_44106834A>AT	uc001zth.1	-	3	666_667	c.482_483T>AT	c.(481-483)aatfs	p.N161fs		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	161						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)		CCATCTCTTCATTTTTTCTCTC	0.46													T	44106835	-	T	44106834	7	5	172	1	0	1	1	0	0	0	0	0	9513	1493	52	0	861	0	MFAP1	15	44106834	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	44106834	58424558	1346	94458	467	2									
DUOXA1	90527	broad.mit.edu	37	chr15	45410170	45410170	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccgggaagcagtgcccgCcaggcctgggccaggagagc	18	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:45410170C>T	uc001zup.2	-	10	1489	c.1089G>A	c.(1087-1089)TGG>TGA	p.W363*	DUOXA2_uc001zuo.2_3'UTR|DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Nonsense_Mutation_p.W318*|DUOXA1_uc010bec.2_Nonsense_Mutation_p.W363*	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	Error:Variant_position_missing_in_Q1HG43_after_alignment					protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		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)		GCAGTGCCCGCCAGGCCTGGG	0.642											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45410170	C	T	45410170	4	4	172	1	0	0	0	0	0	1	0	0	4802	740	26	2	370	2	DUOXA1	15	45410170	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1303336	45410170	57121222	1347	94459											
SECISBP2L	9728	broad.mit.edu	37	chr15	49293144	49293144	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttaacttcatatgtttGgtaacttctcttagacccat	5	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:49293144G>T	uc001zxe.1	-	15	2312	c.2178C>A	c.(2176-2178)ACC>ACA	p.T726T	SECISBP2L_uc001zxd.1_Silent_p.T681T|SECISBP2L_uc010bep.1_Silent_p.T488T	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	726										breast(1)|skin(1)	2						TCATATGTTTGGTAACTTCTC	0.378													T	49293144	G	T	49293144	2	4	172	1	0	0	0	0	0	0	0	1	14007	1335	47	5		5	SECISBP2L	15	49293144	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3882974	49293144	53238248	1348	94460											
GLDN	342035	broad.mit.edu	37	chr15	51693862	51693862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcatccaccttccatActatttccatggctgtgggc	7	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:51693862A>G	uc002aba.2	+	9	1269	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	GLDN_uc002abb.2_Missense_Mutation_p.Y243C	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	367	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CACCTTCCATACTATTTCCAT	0.493											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	51693862	A	G	51693862	3	3	172	1	0	0	0	0	1	0	0	0	6434	391	14	3	1134	3	GLDN	15	51693862	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2400718	51693862	50837530	1349	94461											
MYO5C	55930	broad.mit.edu	37	chr15	52564923	52564923	+	Splice_Site	DEL	A	A	-													cttggcatttccaacggcctAaaaaaaataagactctattg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:52564922_52564922TA>T	uc010bff.3	-	6	769	c.607_splice	c.e6-1	p.A203_splice	MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	203	Myosin head-like.					myosin complex	ATP binding|actin 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)		TCCAACGGCCTAAAAAAAATA	0.363													-	52564923	A	-	52564923	8	5	172	1	0	1	0	1	0	0	1	0	10080	377	13	0		0	MYO5C	15	52564923	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	871061	52564923	49966469	1350	94462											
MYO5A	4644	broad.mit.edu	37	chr15	52689455	52689455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcagaatggagagccTgattgacattatctacaatc	9	8	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:52689455T>C	uc002aby.2	-	10	1506	c.1262A>G	c.(1261-1263)CAG>CGG	p.Q421R	MYO5A_uc002abx.3_Missense_Mutation_p.Q421R|MYO5A_uc010uge.1_Missense_Mutation_p.Q290R	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	421	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATGGAGAGCCTGATTGACATT	0.448													C	52689455	T	C	52689455	3	2	172	1	0	0	0	0	1	0	0	0	10078	1580	55	3	4433	3	MYO5A	15	52689455	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	124532	52689455	49841937	1351	94463											
PIGB	9488	broad.mit.edu	37	chr15	55611484	55611484	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgcggaatggagccGgggggcggagatgccagcct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:55611484delG	uc002act.2	+	1	352	c.36delG	c.(34-36)CCGfs	p.P12fs	uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	12					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		GAATGGAGCCGGGGGGCGGAG	0.577													-	55611484	G	-	55611484	7	5	172	1	0	1	0	1	0	0	0	0	11885	1103	39	0	38	0	PIGB	15	55611484	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	2922029	55611484	46919908	1352	94464											
NEDD4	4734	broad.mit.edu	37	chr15	56132872	56132872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaacttgaagtaagagaggTgatcttcgttacacaatcca	8	7	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:56132872T>C	uc002adj.2	-	16	3449	c.3149A>G	c.(3148-3150)CAC>CGC	p.H1050R	NEDD4_uc002adl.2_Missense_Mutation_p.H631R|NEDD4_uc002adi.2_Missense_Mutation_p.H978R|NEDD4_uc010ugj.1_Missense_Mutation_p.H1034R|NEDD4_uc010bfm.2_Missense_Mutation_p.H1033R|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1050	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			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTAAGAGAGGTGATCTTCGTT	0.333													C	56132872	T	C	56132872	3	2	172	1	0	0	0	0	1	0	0	0	10310	1696	59	3	850	3	NEDD4	15	56132872	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	521388	56132872	46398520	1353	94465											
ADAM10	102	broad.mit.edu	37	chr15	58925422	58925422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagttatgtccaacttcGtgagcaaaagtaatgtgaga	9	7	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:58925422G>A	uc002afd.1	-	9	1593	c.1149C>T	c.(1147-1149)CAC>CAT	p.H383H	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Silent_p.H82H|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	383	Peptidase M12B.|Extracellular (Potential).	Zinc; catalytic.			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			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		GTCCAACTTCGTGAGCAAAAG	0.318													A	58925422	G	A	58925422	2	1	172	1	0	0	0	0	0	0	0	1	234	1136	40	1		1	ADAM10	15	58925422	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2792550	58925422	43605970	1354	94466											
DIS3L	115752	broad.mit.edu	37	chr15	66615118	66615118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgaggaaaagccatctcGtattcagcattgaccccaaa	7	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:66615118G>A	uc010ujm.1	+	10	1435	c.1420G>A	c.(1420-1422)GTA>ATA	p.V474I	DIS3L_uc010ujl.1_Missense_Mutation_p.V104I|DIS3L_uc002app.2_Missense_Mutation_p.V391I|DIS3L_uc002apq.2_Missense_Mutation_p.V474I|DIS3L_uc010bho.2_Missense_Mutation_p.V340I	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	474					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						AAGCCATCTCGTATTCAGCAT	0.458													A	66615118	G	A	66615118	3	1	172	1	0	0	0	0	1	0	0	0	4536	1145	40	1	1458	1	DIS3L	15	66615118	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	7689696	66615118	35916274	1355	94467											
CORO2B	10391	broad.mit.edu	37	chr15	69011084	69011084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagcctgcgaggtgttcCgcttctacaagctggtgact	12	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:69011084C>T	uc002arj.3	+	9	1044	c.1015C>T	c.(1015-1017)CGC>TGC	p.R339C	CORO2B_uc010bic.2_Missense_Mutation_p.R334C|CORO2B_uc002ark.2_Missense_Mutation_p.R106C	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	339					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CGAGGTGTTCCGCTTCTACAA	0.627													T	69011084	C	T	69011084	3	4	172	1	0	0	0	0	1	0	0	0	3757	652	23	1	1049	1	CORO2B	15	69011084	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2395966	69011084	33520308	1356	94468											
MYO9A	4649	broad.mit.edu	37	chr15	72172765	72172765	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatgcatagaatccaAagccacgttgctaatcttca	6	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:72172765A>T	uc002atl.3	-	29	6006	c.5533T>A	c.(5533-5535)TTG>ATG	p.L1845M	MYO9A_uc002atk.2_Missense_Mutation_p.L640M|MYO9A_uc002atm.1_Missense_Mutation_p.L641M	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1845	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			ovary(1)|pancreas(1)|skin(1)	3						ATAGAATCCAAAGCCACGTTG	0.428													T	72172765	A	T	72172765	3	4	172	1	0	0	0	0	1	0	0	0	10084	11	1	5	2169	5	MYO9A	15	72172765	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3161681	72172765	30358627	1357	94469											
CELF6	60677	broad.mit.edu	37	chr15	72580753	72580753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccgcatcaccaaactccTgaggcaggtgatagatgaag	11	10	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:72580753T>C	uc002auh.2	-	11	1524	c.1214A>G	c.(1213-1215)CAG>CGG	p.Q405R	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Missense_Mutation_p.Q292R|CELF6_uc010ukl.1_Missense_Mutation_p.Q268R|CELF6_uc010ukm.1_Missense_Mutation_p.Q378R|CELF6_uc002aui.2_Missense_Mutation_p.Q511R|CELF6_uc002auj.2_Missense_Mutation_p.Q292R	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	405	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3						ACCAAACTCCTGAGGCAGGTG	0.547													C	72580753	T	C	72580753	3	2	172	1	0	0	0	0	1	0	0	0	3220	1580	55	3	239	3	CELF6	15	72580753	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	407988	72580753	29950639	1358	94470											
C15orf59	388135	broad.mit.edu	37	chr15	74032759	74032759	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgagtcgactcgggAccatccacggagtccgaggg	15	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:74032759A>G	uc002avy.2	-	2	726	c.381T>C	c.(379-381)GGT>GGC	p.G127G		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	127										pancreas(1)	1						TCGACTCGGGACCATCCACGG	0.632													G	74032759	A	G	74032759	2	3	172	1	0	0	0	0	0	0	0	1	1807	262	10	3		3	C15orf59	15	74032759	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1452006	74032759	28498633	1359	94471											
LOXL1	4016	broad.mit.edu	37	chr15	74235283	74235285	+	In_Frame_Del	DEL	GGA	GGA	-													tactccctgcgctgtgctgcGgaggagaagtgtctggccag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:74235283_74235285delGGA	uc002awc.1	+	2	1527_1529	c.1191_1193delGGA	c.(1189-1194)GCGGAG>GCG	p.E399del		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	399	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding				0						GCTGTGCTGCGGAGGAGAAGTGT	0.596													-	74235285	GGA	-	74235283	7	5	172	1	0	1	0	1	0	0	0	0	8899	1103	39	0	1197	0	LOXL1	15	74235283	In_Frame_Del	DEL	GGA	TCGA-CG-4442-01A-01D-1158-08	202524	74235283	28296109	1360	94472											
CCDC33	80125	broad.mit.edu	37	chr15	74573063	74573063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcatctctgtgttgcCgctaaagagccgtttgtacc	11	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:74573063C>T	uc002axo.2	+	9	1338	c.944C>T	c.(943-945)CCG>CTG	p.P315L	CCDC33_uc002axp.2_Missense_Mutation_p.P137L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	518							protein binding			ovary(3)|skin(2)	5						TCTGTGTTGCCGCTAAAGAGC	0.612													T	74573063	C	T	74573063	3	4	172	1	0	0	0	0	1	0	0	0	2806	652	23	1	978	1	CCDC33	15	74573063	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	337780	74573063	27958329	1361	94473											
TMED3	23423	broad.mit.edu	37	chr15	79606185	79606185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaacgaagaagcagtaCgacagcttcacgtaccgggc	12	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:79606185C>T	uc002beu.2	+	2	356	c.255C>T	c.(253-255)TAC>TAT	p.Y85Y	TMED3_uc010unj.1_Silent_p.Y85Y|TMED3_uc002bev.2_RNA	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	85	Lumenal (Potential).|GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)|skin(1)	2						AGAAGCAGTACGACAGCTTCA	0.483													T	79606185	C	T	79606185	2	4	172	1	0	0	0	0	0	0	0	1	16002	547	19	1		1	TMED3	15	79606185	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	5033122	79606185	22925207	1362	94474											
MEX3B	84206	broad.mit.edu	37	chr15	82336563	82336563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaatctcctctcgagcGcgatccacgttctctggcat	8	16	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:82336563G>A	uc002bgq.1	-	2	963	c.648C>T	c.(646-648)CGC>CGT	p.R216R		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	216	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CCTCTCGAGCGCGATCCACGT	0.612													A	82336563	G	A	82336563	2	1	172	1	0	0	0	0	0	0	0	1	9510	1074	38	1		1	MEX3B	15	82336563	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2730378	82336563	20194829	1363	94475											
AP3B2	8120	broad.mit.edu	37	chr15	83349406	83349406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacatagggctttcgggaGggggcggccgcggcggccgt	20	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:83349406G>A	uc010uoh.1	-	8	1050	c.873C>T	c.(871-873)CCC>CCT	p.P291P	AP3B2_uc010uoi.1_Silent_p.P291P|AP3B2_uc010uoj.1_Silent_p.P259P|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	291					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTTTCGGGAGGGGGCGGCCG	0.677													A	83349406	G	A	83349406	2	1	172	1	0	0	0	0	0	0	0	1	745	987	35	4		4	AP3B2	15	83349406	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1012843	83349406	19181986	1364	94476											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84488696	84488696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtgcactcaagtgtcAtgcacaaggacaaaacttgg	10	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:84488696A>G	uc002bjz.3	+	6	721	c.497A>G	c.(496-498)CAT>CGT	p.H166R	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.H166R|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.H166R|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.H166R	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	166						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCAAGTGTCATGCACAAGGA	0.502													G	84488696	A	G	84488696	3	3	172	1	0	0	0	0	1	0	0	0	276	217	8	3	515	3	ADAMTSL3	15	84488696	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1139290	84488696	18042696	1365	94477											
AEN	64782	broad.mit.edu	37	chr15	89169602	89169602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagcaggggctgctgagCatgcctccagaaccagggtc	15	12	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:89169602C>T	uc002bmt.2	+	2	313	c.162C>T	c.(160-162)AGC>AGT	p.S54S	AEN_uc010bnl.2_Silent_p.S54S|AEN_uc010bnm.1_Silent_p.S54S	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	54					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						GGCTGCTGAGCATGCCTCCAG	0.627													T	89169602	C	T	89169602	2	4	172	1	0	0	0	0	0	0	0	1	351	709	25	2		2	AEN	15	89169602	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4680906	89169602	13361790	1366	94478											
ABHD2	11057	broad.mit.edu	37	chr15	89719194	89719194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagaaggtcctgtgctgCgtcagcgtgtgccaggggta	16	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:89719194C>T	uc002bnj.2	+	11	1607	c.690C>T	c.(688-690)TGC>TGT	p.C230C	ABHD2_uc002bnk.2_Silent_p.C230C	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	230						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCTGTGCTGCGTCAGCGTGT	0.567													T	89719194	C	T	89719194	2	4	172	1	0	0	0	0	0	0	0	1	82	776	27	1		1	ABHD2	15	89719194	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	549592	89719194	12812198	1367	94479											
C15orf42	90381	broad.mit.edu	37	chr15	90170282	90170282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagaacttatacacggAagaagctcatgggaacctgg	11	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90170282A>G	uc002boe.2	+	22	5698	c.5698A>G	c.(5698-5700)AAG>GAG	p.K1900E	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1900					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTATACACGGAAGAAGCTCAT	0.498													G	90170282	A	G	90170282	3	3	172	1	0	0	0	0	1	0	0	0	1796	247	9	3	5784	3	C15orf42	15	90170282	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	451088	90170282	12361110	1368	94480											
AP3S2	10239	broad.mit.edu	37	chr15	90446505	90446505	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctccgctgcagcccccttCgaacacttttgggccatgat	8	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90446505C>T	uc002bos.3	-	5	770	c.615G>A	c.(613-615)TCG>TCA	p.S205S	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Silent_p.S205S	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	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)			CAGCCCCCTTCGAACACTTTT	0.562													T	90446505	C	T	90446505	2	4	172	1	0	0	0	0	0	0	0	1	750	871	31	1		1	AP3S2	15	90446505	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	276223	90446505	12084887	1369	94481											
TTLL13	440307	broad.mit.edu	37	chr15	90794020	90794020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcattaaaaaatggggttcCctcacccattatggccacaa	8	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90794020C>A	uc002bpd.1	+	2	446	c.158C>A	c.(157-159)CCC>CAC	p.P53H	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	53					protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	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)			AATGGGGTTCCCTCACCCATT	0.473													A	90794020	C	A	90794020	3	1	172	1	0	0	0	0	1	0	0	0	16723	623	22	5	160	5	TTLL13	15	90794020	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	347515	90794020	11737372	1370	94482											
ZNF774	342132	broad.mit.edu	37	chr15	90903582	90903582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagacacctaagaacccaCactggcgagaggccctatac	8	13	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:90903582C>T	uc002bpk.3	+	4	705	c.519C>T	c.(517-519)CAC>CAT	p.H173H		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	173	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAGAACCCACACTGGCGAGA	0.498													T	90903582	C	T	90903582	2	4	172	1	0	0	0	0	0	0	0	1	18144	477	17	4		4	ZNF774	15	90903582	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	109562	90903582	11627810	1371	94483											
ADAMTS17	170691	broad.mit.edu	37	chr15	100739577	100739577	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aattgagaccattgtcttcgGcaagcacacacttcctctta	6	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:100739577G>C	uc002bvv.1	-	8	1206	c.1127C>G	c.(1126-1128)GCC>GGC	p.A376G	ADAMTS17_uc002bvx.1_Missense_Mutation_p.A133G	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	376	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATTGTCTTCGGCAAGCACACA	0.488													C	100739577	G	C	100739577	3	2	172	1	0	0	0	0	1	0	0	0	262	1203	42	5	2220	5	ADAMTS17	15	100739577	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	9835995	100739577	1791815	1372	94484											
ADAMTS17	170691	broad.mit.edu	37	chr15	100801716	100801716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcagcatccaccaggggCgggtcgtccttcccgccggg	15	16	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:100801716C>T	uc002bvv.1	-	6	1078	c.999G>A	c.(997-999)CCG>CCA	p.P333P	ADAMTS17_uc002bvx.1_Silent_p.P90P	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	333	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCACCAGGGGCGGGTCGTCCT	0.562													T	100801716	C	T	100801716	2	4	172	1	0	0	0	0	0	0	0	1	262	755	27	1		1	ADAMTS17	15	100801716	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	62139	100801716	1729676	1373	94485											
TARSL2	123283	broad.mit.edu	37	chr15	102241308	102241308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtatgaaatctgtaagcGtattataaatgaaggctcct	8	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:102241308G>A	uc002bxm.2	-	10	1356	c.1301C>T	c.(1300-1302)ACG>ATG	p.T434M	TARSL2_uc002bxl.2_Translation_Start_Site|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	434					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	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)			ATCTGTAAGCGTATTATAAAT	0.308													A	102241308	G	A	102241308	3	1	172	1	0	0	0	0	1	0	0	0	15558	1145	40	1	1147	1	TARSL2	15	102241308	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1439592	102241308	290084	1374	94486											
TARSL2	123283	broad.mit.edu	37	chr15	102263369	102263369	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgactaggaggaggcTgaaagataaattataaatga	12	3	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr15:102263369T>C	uc002bxm.2	-	2	353	c.298_splice	c.e2-1	p.P100_splice	TARSL2_uc010usi.1_Splice_Site	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2						threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	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)			AGGAGGAGGCTGAAAGATAAA	0.418													C	102263369	T	C	102263369	5	2	172	1	0	0	0	0	0	0	1	0	15558	1594	55	3	2184	3	TARSL2	15	102263369	Splice_Site	SNP	T	TCGA-CG-4442-01A-01D-1158-08	22061	102263369	268023	1375	94487											
LUC7L	55692	broad.mit.edu	37	chr16	277242	277242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccaaaatgcacctaccGtcccagccaggatgtcatgg	8	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:277242G>A	uc002cgc.1	-	2	266	c.155C>T	c.(154-156)ACG>ATG	p.T52M	LUC7L_uc002cga.1_Missense_Mutation_p.T52M|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.T52M|LUC7L_uc010bqq.1_3'UTR	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	52							metal ion binding			central_nervous_system(1)	1		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)				TGCACCTACCGTCCCAGCCAG	0.478													A	277242	G	A	277242	3	1	172	1	0	0	0	0	1	0	0	0	9082	1159	40	1	1000	1	LUC7L	16	277242	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08		277242	90077511	1376	94488											
RAB40C	57799	broad.mit.edu	37	chr16	676026	676026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccttctttgaggtcagccCcctgtgcaacttcaacgtca	8	14	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:676026C>A	uc002chr.2	+	5	586	c.470C>A	c.(469-471)CCC>CAC	p.P157H	RAB40C_uc002chq.2_Missense_Mutation_p.P138H	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	157					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				GAGGTCAGCCCCCTGTGCAAC	0.617													A	676026	C	A	676026	3	1	172	1	0	0	0	0	1	0	0	0	12942	623	22	5	488	5	RAB40C	16	676026	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	398784	676026	89678727	1377	94489											
WDR90	197335	broad.mit.edu	37	chr16	715973	715973	+	Frame_Shift_Del	DEL	C	C	-													tgcctctgcctggcatggagCcccccgtgctgtggccgccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:715972_715972GC>G	uc002cii.1	+	35	4511	c.4457_4457GC>G	c.(4456-4458)agcfs	p.S1486fs	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Frame_Shift_Del_p.S101fs|WDR90_uc002cio.1_Frame_Shift_Del_p.S85fs|WDR90_uc010bqx.1_Frame_Shift_Del_p.S85fs|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1486										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGCATGGAGCCCCCCGTGC	0.692													-	715973	C	-	715973	7	5	172	1	0	1	0	1	0	0	0	0	17334	738	26	0	4600	0	WDR90	16	715973	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	39947	715973	89638780	1378	94490											
UBE2I	7329	broad.mit.edu	37	chr16	1374749	1374749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaaaacagagtggagtaCgagaaaagggtccgagcaca	13	8	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:1374749C>T	uc002clc.1	+	7	536	c.432C>T	c.(430-432)TAC>TAT	p.Y144Y	UBE2I_uc002cld.1_Silent_p.Y144Y|UBE2I_uc002clf.1_Silent_p.Y144Y|UBE2I_uc002clg.1_Silent_p.Y144Y	NM_194261	NP_919237	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	144					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)|skin(1)	2		Hepatocellular(780;0.00369)				GAGTGGAGTACGAGAAAAGGG	0.552													T	1374749	C	T	1374749	2	4	172	1	0	0	0	0	0	0	0	1	16856	547	19	1		1	UBE2I	16	1374749	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	658776	1374749	88980004	1379	94491											
C16orf42	115939	broad.mit.edu	37	chr16	1399497	1399497	+	Frame_Shift_Del	DEL	C	C	-													agccggggccctggcctcagCcccccgtccctgcgtctgct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:1399496_1399496GC>G	uc002cll.3	-	5	949	c.881_881GC>C	c.(880-882)gctfs	p.A294fs	GNPTG_uc002clm.3_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA.	294					rRNA processing					endometrium(1)|kidney(1)|lung(2)	4		Hepatocellular(780;0.0893)				CCTGGCCTCAGCCCCCCGTCC	0.602													-	1399497	C	-	1399497	7	5	172	1	0	1	0	1	0	0	0	0	1813	739	26	0	62	0	C16orf42	16	1399497	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	24748	1399497	88955256	1380	94492											
HS3ST6	64711	broad.mit.edu	37	chr16	1961936	1961936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtccaggtgctgggcGtacaggccgatgcggacggc	18	11	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:1961936G>A	uc002cnf.2	-	2	591	c.591C>T	c.(589-591)TAC>TAT	p.Y197Y		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	197											0						GGTGCTGGGCGTACAGGCCGA	0.721													A	1961936	G	A	1961936	2	1	172	1	0	0	0	0	0	0	0	1	7369	1140	40	1		1	HS3ST6	16	1961936	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	562439	1961936	88392817	1381	94493											
TBL3	10607	broad.mit.edu	37	chr16	2026277	2026277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcgtggctcagggttcCggtcacacacacagtgtggg	15	10	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2026277C>T	uc002cnu.1	+	13	1356	c.1254C>T	c.(1252-1254)TCC>TCT	p.S418S	TBL3_uc002cnv.1_Silent_p.S304S|TBL3_uc010bsb.1_Silent_p.S207S|TBL3_uc010bsc.1_Intron|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	418					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						CTCAGGGTTCCGGTCACACAC	0.637													T	2026277	C	T	2026277	2	4	172	1	0	0	0	0	0	0	0	1	15640	639	23	1		1	TBL3	16	2026277	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	64341	2026277	88328476	1382	94494											
TSC2	7249	broad.mit.edu	37	chr16	2131669	2131669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcaacaacatgcccctGcaggagctgtctaacgccct	8	15	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2131669G>A	uc002con.2	+	31	3790	c.3684G>A	c.(3682-3684)CTG>CTA	p.L1228L	TSC2_uc010bsd.2_Silent_p.L1228L|TSC2_uc002coo.2_Silent_p.L1184L|TSC2_uc010uvv.1_Silent_p.L1148L|TSC2_uc010uvw.1_Silent_p.L1136L|TSC2_uc002cop.2_Silent_p.L984L|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1228					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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				ACATGCCCCTGCAGGAGCTGT	0.637			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2131669	G	A	2131669	2	1	172	1	0	0	0	0	0	0	0	1	16603	1306	46	2		2	TSC2	16	2131669	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	105392	2131669	88223084	1383	94495											
TSC2	7249	broad.mit.edu	37	chr16	2136307	2136307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgccagccggacaaggtGtacctgggaggcctggacgt	16	11	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2136307G>A	uc002con.2	+	37	4882	c.4776G>A	c.(4774-4776)GTG>GTA	p.V1592V	TSC2_uc010bsd.2_Silent_p.V1569V|TSC2_uc002coo.2_Silent_p.V1525V|TSC2_uc010uvv.1_Silent_p.V1489V|TSC2_uc010uvw.1_Silent_p.V1477V|TSC2_uc002cop.2_Silent_p.V1348V|TSC2_uc002coq.2_Silent_p.V367V|TSC2_uc002cor.2_Silent_p.V293V	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1592	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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CGGACAAGGTGTACCTGGGAG	0.627			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2136307	G	A	2136307	2	1	172	1	0	0	0	0	0	0	0	1	16603	1364	48	4		4	TSC2	16	2136307	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4638	2136307	88218446	1384	94496											
TRAF7	84231	broad.mit.edu	37	chr16	2225924	2225927	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													gctgtgacaaatcaccacatTgtctgtggcacctacgagaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2225923_2225926TTGTC>T	uc002cow.3	+	17	1814_1817	c.1715_1718TTGTC>T	c.(1714-1719)attgtcfs	p.I572fs		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	572					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AATCACCACATTGTCTGTGGCACC	0.564													-	2225927	TGTC	-	2225924	7	5	172	1	0	1	0	1	0	0	0	0	16443	1800	63	0	1782	0	TRAF7	16	2225924	Frame_Shift_Del	DEL	TGTC	TCGA-CG-4442-01A-01D-1158-08	89617	2225924	88128829	1385	94497											
AMDHD2	51005	broad.mit.edu	37	chr16	2578619	2578620	+	Frame_Shift_Ins	INS	-	-	C													catgccaggtggcccacgacINSccccccagagcctgccctct					rs142686134		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2578618_2578619A>AC	uc010uwc.2	+	7	1125_1126	c.1028_1029A>AC	c.(1027-1029)gacfs	p.D343fs	AMDHD2_uc002cqp.3_Frame_Shift_Ins_p.D343fs|AMDHD2_uc002cqq.3_Intron|AMDHD2_uc010uwd.2_Frame_Shift_Ins_p.D107fs	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	323					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						GTGGCCCACGACCCCCCCAGAG	0.663													C	2578620	-	C	2578619	7	5	172	1	0	1	1	0	0	0	0	0	568	506	18	0	1059	0	AMDHD2	16	2578619	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	352695	2578619	87776134	1386	94498											
PDPK1	5170	broad.mit.edu	37	chr16	2636711	2636711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccagtttggctgcatgcAggtgtcttcgtcctcctcct	11	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2636711A>G	uc002cqs.2	+	11	1304	c.1160A>G	c.(1159-1161)CAG>CGG	p.Q387R	PDPK1_uc002cqt.2_Missense_Mutation_p.Q260R|PDPK1_uc010bsn.2_Missense_Mutation_p.Q387R|PDPK1_uc002cqu.2_Missense_Mutation_p.Q360R	NM_002613	NP_002604	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	387					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)|ovary(1)	3		Ovarian(90;0.17)			Celecoxib(DB00482)	GGCTGCATGCAGGTGTCTTCG	0.557													G	2636711	A	G	2636711	3	3	172	1	0	0	0	0	1	0	0	0	11687	188	7	3	1202	3	PDPK1	16	2636711	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	58092	2636711	87718042	1387	94499											
PRSS22	64063	broad.mit.edu	37	chr16	2906205	2906205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtcagtgctgtcctcGccgcccacaacccggttcag	10	17	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:2906205G>A	uc002cry.1	-	3	225	c.159C>T	c.(157-159)GGC>GGT	p.G53G	PRSS22_uc002crz.1_Silent_p.G53G	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	53	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						TGCTGTCCTCGCCGCCCACAA	0.572													A	2906205	G	A	2906205	2	1	172	1	0	0	0	0	0	0	0	1	12619	1074	38	1		1	PRSS22	16	2906205	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	269494	2906205	87448548	1388	94500											
ZNF205	7755	broad.mit.edu	37	chr16	3169648	3169648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgacgcaccggcgcacGcacacgggcgagaagcccta	14	15	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3169648G>A	uc002cub.2	+	7	1122	c.987G>A	c.(985-987)ACG>ACA	p.T329T	ZNF205_uc002cua.2_Silent_p.T329T	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	329	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ACCGGCGCACGCACACGGGCG	0.677													A	3169648	G	A	3169648	2	1	172	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZNF205	16	3169648	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	263443	3169648	87185105	1389	94501											
ZNF213	7760	broad.mit.edu	37	chr16	3191136	3191136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgcagcgcctacctggccGaccaccagcgcatacacacg	10	19	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3191136G>A	uc010uws.1	+	6	1615	c.1168G>A	c.(1168-1170)GAC>AAC	p.D390N	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.D390N|ZNF213_uc010uwt.1_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	390	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTACCTGGCCGACCACCAGCG	0.662													A	3191136	G	A	3191136	3	1	172	1	0	0	0	0	1	0	0	0	17766	1058	37	1	1186	1	ZNF213	16	3191136	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	21488	3191136	87163617	1390	94502											
MEFV	4210	broad.mit.edu	37	chr16	3293377	3293377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaggcgggtcgggggaaCgctggacgcctggtactcat	17	10	1	0	rs104895096		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3293377C>T	uc002cun.1	-	10	2150	c.2110G>A	c.(2110-2112)GTT>ATT	p.V704I		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	704	B30.2/SPRY.		V -> I (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GTCGGGGGAACGCTGGACGCC	0.517													T	3293377	C	T	3293377	3	4	172	1	0	0	0	0	1	0	0	0	9459	536	19	1	239	1	MEFV	16	3293377	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	102241	3293377	87061376	1391	94503											
MEFV	4210	broad.mit.edu	37	chr16	3304678	3304678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgtacggccgagggccGttcccctcgttcccctcggg	12	20	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3304678G>A	uc002cun.1	-	2	430	c.390C>T	c.(388-390)AAC>AAT	p.N130N		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	130					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GCCGAGGGCCGTTCCCCTCGT	0.677													A	3304678	G	A	3304678	2	1	172	1	0	0	0	0	0	0	0	1	9459	1136	40	1		1	MEFV	16	3304678	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	11301	3304678	87050075	1392	94504											
ZNF434	54925	broad.mit.edu	37	chr16	3434756	3434756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgcggtaactcaactgtaGgcttttgaacttggtgcgac	11	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3434756G>T	uc002cuz.2	-	5	1103	c.301C>A	c.(301-303)CTA>ATA	p.L101I	ZNF434_uc002cux.3_Missense_Mutation_p.L312I|ZNF434_uc010uwx.1_Missense_Mutation_p.L24I|ZNF434_uc002cuy.3_Missense_Mutation_p.L24I|ZNF434_uc010uwy.1_Missense_Mutation_p.L24I|ZNF434_uc010uwz.1_Missense_Mutation_p.L312I|ZNF434_uc010uxa.1_Missense_Mutation_p.L101I	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTCAACTGTAGGCTTTTGAAC	0.542													T	3434756	G	T	3434756	3	4	172	1	0	0	0	0	1	0	0	0	17905	991	35	5	1164	5	ZNF434	16	3434756	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	130078	3434756	86919997	1393	94505											
BTBD12	84464	broad.mit.edu	37	chr16	3641099	3641099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttccatttctgcttcaTtcacgttttcttgatcttct	3	11	7	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:3641099T>C	uc002cvp.2	-	12	3167	c.2540A>G	c.(2539-2541)AAT>AGT	p.N847S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	847	Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TTCTGCTTCATTCACGTTTTC	0.483								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				C	3641099	T	C	3641099	3	2	172	1	0	0	0	0	1	0	0	0	1540	1493	52	3	2980	3	BTBD12	16	3641099	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	206343	3641099	86713654	1394	94506											
CORO7	79585	broad.mit.edu	37	chr16	4409528	4409528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggtcgtagctgggcaGcagggttgagggagccacgt	19	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:4409528G>T	uc002cwh.3	-	22	2323	c.2203C>A	c.(2203-2205)CTG>ATG	p.L735M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.L735M|CORO7_uc002cwg.3_Missense_Mutation_p.L515M|CORO7_uc010uxh.1_Missense_Mutation_p.L717M|CORO7_uc010uxi.1_Missense_Mutation_p.L650M|CORO7_uc002cwi.1_Missense_Mutation_p.L515M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	735	WD 8.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						TAGCTGGGCAGCAGGGTTGAG	0.672											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4409528	G	T	4409528	3	4	172	1	0	0	0	0	1	0	0	0	3759	962	34	5	602	5	CORO7	16	4409528	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	768429	4409528	85945225	1395	94507											
GLYR1	84656	broad.mit.edu	37	chr16	4861222	4861222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgaccgcatcacccagCgcaatggctaagcggagatc	12	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:4861222C>T	uc002cxx.3	-	15	1573	c.1536G>A	c.(1534-1536)GCG>GCA	p.A512A	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.A426A|GLYR1_uc002cya.2_Silent_p.A506A|GLYR1_uc010uxv.1_Silent_p.A431A	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	512					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						CATCACCCAGCGCAATGGCTA	0.478													T	4861222	C	T	4861222	2	4	172	1	0	0	0	0	0	0	0	1	6483	755	27	1		1	GLYR1	16	4861222	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	451694	4861222	85493531	1396	94508											
GLYR1	84656	broad.mit.edu	37	chr16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C													cgggggcttccagaaagcgcINSccccccctggacacaatcac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574													C	4862230	-	C	4862229	7	5	172	1	0	1	1	0	0	0	0	0	6483	726	26	0	537	0	GLYR1	16	4862229	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1007	4862229	85492524	1397	94509											
ALG1	56052	broad.mit.edu	37	chr16	5123189	5123189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtacggagtcaaagttGtacttcaggctatgtacttg	10	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:5123189G>A	uc002cym.2	+	3	363	c.322G>A	c.(322-324)GTA>ATA	p.V108I	ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.V108I|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	108	Lumenal (Potential).				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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				AGTCAAAGTTGTACTTCAGGC	0.507													A	5123189	G	A	5123189	3	1	172	1	0	0	0	0	1	0	0	0	510	1377	48	4	332	4	ALG1	16	5123189	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	260960	5123189	85231564	1398	94510											
TXNDC11	51061	broad.mit.edu	37	chr16	11792005	11792005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattaaaggatgactttcGgccaggggattaaaaggtat	11	5	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:11792005G>A	uc010buu.1	-	8	1226	c.1164C>T	c.(1162-1164)GCC>GCT	p.A388A	TXNDC11_uc002dbg.1_Silent_p.A361A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						GATGACTTTCGGCCAGGGGAT	0.507													A	11792005	G	A	11792005	2	1	172	1	0	0	0	0	0	0	0	1	16789	1103	39	1		1	TXNDC11	16	11792005	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6668816	11792005	78562748	1399	94511											
ABCC1	4363	broad.mit.edu	37	chr16	16130382	16130382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtgacctctggtcctTaaacaaggaggacacgtcgg	14	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16130382T>C	uc010bvi.2	+	7	906	c.731T>C	c.(730-732)TTA>TCA	p.L244S	ABCC1_uc010bvj.2_Missense_Mutation_p.L244S|ABCC1_uc010bvk.2_Missense_Mutation_p.L244S|ABCC1_uc010bvl.2_Missense_Mutation_p.L244S|ABCC1_uc010bvm.2_Missense_Mutation_p.L244S|ABCC1_uc002del.3_Missense_Mutation_p.L128S|ABCC1_uc010bvn.2_Missense_Mutation_p.L107S	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	244	Cytoplasmic.				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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTCTGGTCCTTAAACAAGGAG	0.537													C	16130382	T	C	16130382	3	2	172	1	0	0	0	0	1	0	0	0	49	1764	61	3	757	3	ABCC1	16	16130382	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4338377	16130382	74224371	1400	94512											
ABCC1	4363	broad.mit.edu	37	chr16	16165586	16165587	+	Splice_Site	INS	-	-	GT													gcgacggcctgtcaaagacgINSgtgtgtgtgtgttcagtcct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16165586_16165587insGT	uc010bvi.2	+	14	2087	c.1912_splice	c.e14+1	p.G638_splice	ABCC1_uc010bvj.2_Splice_Site_p.G638_splice|ABCC1_uc010bvk.2_Splice_Site_p.G638_splice|ABCC1_uc010bvl.2_Splice_Site_p.G638_splice|ABCC1_uc010bvm.2_Splice_Site_p.G638_splice|ABCC1_uc002del.3_Splice_Site_p.G522_splice	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCAAAGACGGTGTGTGTGTG	0.569													GT	16165587	-	GT	16165586	8	5	172	1	0	1	1	0	0	0	1	0	49	1130	39	0	1966	0	ABCC1	16	16165586	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	35204	16165586	74189167	1401	94513	468	2									
ABCC1	4363	broad.mit.edu	37	chr16	16165587	16165588	+	Splice_Site	INS	-	-	GT													cgacggcctgtcaaagacggINStgtgtgtgtgttcagtcctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:16165586_16165587G>GGT	uc010bvi.3	+	14	2087	c.1912_splice	c.e14+1	p.G638_splice	ABCC1_uc010bvj.3_Splice_Site_p.G638_splice|ABCC1_uc010bvk.3_Splice_Site_p.G638_splice|ABCC1_uc010bvl.3_Splice_Site_p.G638_splice|ABCC1_uc010bvm.3_Splice_Site_p.G638_splice|ABCC1_uc002del.4_Splice_Site_p.G522_splice|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Splice_Site_p.G95_splice	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	638					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)	TGTCAAAGACGGTGTGTGTGTG	0.569													GT	16165588	-	GT	16165587	8	5	172	1	0	1	1	0	0	0	1	0	49	1275	44	0	1967	0	ABCC1	16	16165587	Splice_Site	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	16165587	74189166	1402	94514	468	2									
GPR139	124274	broad.mit.edu	37	chr16	20043389	20043390	+	Frame_Shift_Ins	INS	-	-	G													taaagaatcatgatgatgcgINSgggggcccaaagtgtggcaa					rs140063049	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:20043388_20043389C>CG	uc002dgu.1	-	1	892_893	c.730_731G>CG	c.(730-732)cgcfs	p.R244fs	GPR139_uc010vaw.1_Frame_Shift_Ins_p.R151fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	244						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						CATGATGATGCGGGGGGCCCAA	0.545													G	20043390	-	G	20043389	7	5	172	1	0	1	1	0	0	0	0	0	6648	1116	39	0	335	0	GPR139	16	20043389	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	3877802	20043389	70311364	1403	94515											
ACSM2A	123876	broad.mit.edu	37	chr16	20491904	20491904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtcaccaggacaatcccGacaagacagcagccaacatt	9	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:20491904G>A	uc010bwe.2	+	12	1530	c.1291G>A	c.(1291-1293)GAC>AAC	p.D431N	ACSM2A_uc010vax.1_Missense_Mutation_p.D352N|ACSM2A_uc002dhf.3_Missense_Mutation_p.D431N|ACSM2A_uc002dhg.3_Missense_Mutation_p.D431N|ACSM2A_uc010vay.1_Missense_Mutation_p.D352N|ACSM2A_uc002dhh.3_Missense_Mutation_p.D61N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	431					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GGACAATCCCGACAAGACAGC	0.493													A	20491904	G	A	20491904	3	1	172	1	0	0	0	0	1	0	0	0	183	1058	37	1	1329	1	ACSM2A	16	20491904	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	448515	20491904	69862849	1404	94516											
ACSM2B	348158	broad.mit.edu	37	chr16	20556548	20556548	+	Frame_Shift_Del	DEL	G	G	-													ccaatgtctccttctgtgccGgggggcaggacgttgccctt					rs146499503		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:20556547_20556547CG>C	uc002dhj.4	-	10	1423	c.1213_1213CG>G	c.(1213-1215)ggcfs	p.G405fs	ACSM2B_uc002dhk.4_Frame_Shift_Del_p.G405fs|ACSM2B_uc010bwf.1_Frame_Shift_Del_p.G405fs	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-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						CCTTCTGTGCCGGGGGGCAGG	0.517													-	20556548	G	-	20556548	7	5	172	1	0	1	0	1	0	0	0	0	184	1103	39	0	541	0	ACSM2B	16	20556548	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	64644	20556548	69798205	1405	94517											
DNAH3	55567	broad.mit.edu	37	chr16	21123071	21123071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaacatggctaaaggcaCggtgatgttcatggatgcaa	13	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:21123071C>T	uc010vbe.1	-	14	1975	c.1975G>A	c.(1975-1977)GTG>ATG	p.V659M	DNAH3_uc002die.2_Missense_Mutation_p.V599M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	659	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCTAAAGGCACGGTGATGTTC	0.438													T	21123071	C	T	21123071	3	4	172	1	0	0	0	0	1	0	0	0	4603	536	19	1	10570	1	DNAH3	16	21123071	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	566523	21123071	69231682	1406	94518											
UQCRC2	7385	broad.mit.edu	37	chr16	21974140	21974140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagaatttcgtcgttggGaagtagctgaccttcagcct	10	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:21974140G>A	uc002djx.2	+	6	584	c.448G>A	c.(448-450)GAA>AAA	p.E150K	UQCRC2_uc002djy.2_Missense_Mutation_p.E150K|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.E17K	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	150					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		TCGTCGTTGGGAAGTAGCTGA	0.413													A	21974140	G	A	21974140	3	1	172	1	0	0	0	0	1	0	0	0	17017	1175	41	4	470	4	UQCRC2	16	21974140	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	851069	21974140	68380613	1407	94519											
EEF2K	29904	broad.mit.edu	37	chr16	22291579	22291579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctggagatgacggactgTgatgagggcggtgagtacga	18	7	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:22291579T>C	uc002dki.2	+	17	2435	c.1950T>C	c.(1948-1950)TGT>TGC	p.C650C	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	650					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			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		TGACGGACTGTGATGAGGGCG	0.597													C	22291579	T	C	22291579	2	2	172	1	0	0	0	0	0	0	0	1	4930	1702	59	3		3	EEF2K	16	22291579	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	317439	22291579	68063174	1408	94520											
PLK1	5347	broad.mit.edu	37	chr16	23701317	23701317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggccagccggctccgctAcgcccgcactatggtggaca	13	16	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:23701317A>G	uc002dlz.1	+	10	1798	c.1745A>G	c.(1744-1746)TAC>TGC	p.Y582C		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	582	POLO box 2.				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			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		CGGCTCCGCTACGCCCGCACT	0.647													G	23701317	A	G	23701317	3	3	172	1	0	0	0	0	1	0	0	0	12094	391	14	3	1783	3	PLK1	16	23701317	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1409738	23701317	66653436	1409	94521											
ERN2	10595	broad.mit.edu	37	chr16	23718096	23718096	+	Frame_Shift_Del	DEL	G	G	-													tgttcggccaatgtagaggcGgggggtggagggaccctctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:23718095_23718095CG>C	uc002dma.4	-	5	780	c.611_611CG>G	c.(610-612)cgcfs	p.R204fs	ERN2_uc010bxp.3_Frame_Shift_Del_p.R204fs|ERN2_uc010bxq.1_Frame_Shift_Del_p.R12fs	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	156					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)		AATGTAGAGGCGGGGGGTGGA	0.607													-	23718096	G	-	23718096	7	5	172	1	0	1	0	1	0	0	0	0	5238	1116	39	0	2382	0	ERN2	16	23718096	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	16779	23718096	66636657	1410	94522											
TNRC6A	27327	broad.mit.edu	37	chr16	24803029	24803029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacaaaaatgtgaacatgtgGaacaaaaacgtcccaaatgg	8	7	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24803029G>T	uc002dmm.2	+	6	3180	c.3066G>T	c.(3064-3066)TGG>TGT	p.W1022C	TNRC6A_uc010bxs.2_Missense_Mutation_p.W769C|TNRC6A_uc010vcc.1_Missense_Mutation_p.W769C|TNRC6A_uc002dmn.2_Missense_Mutation_p.W769C|TNRC6A_uc002dmo.2_Missense_Mutation_p.W769C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1022	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TGAACATGTGGAACAAAAACG	0.458													T	24803029	G	T	24803029	3	4	172	1	0	0	0	0	1	0	0	0	16337	1183	41	5	3088	5	TNRC6A	16	24803029	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1084933	24803029	65551724	1411	94523											
TNRC6A	27327	broad.mit.edu	37	chr16	24815588	24815588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaaaggccctggttctcGgcctcagatttccaaagagt	12	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24815588G>A	uc002dmm.2	+	12	3899	c.3785G>A	c.(3784-3786)CGG>CAG	p.R1262Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1009Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1009Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R950Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1262	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCTGGTTCTCGGCCTCAGATT	0.388													A	24815588	G	A	24815588	3	1	172	1	0	0	0	0	1	0	0	0	16337	1116	39	1	3831	1	TNRC6A	16	24815588	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	12559	24815588	65539165	1412	94524											
TNRC6A	27327	broad.mit.edu	37	chr16	24817552	24817552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagcgcagcagcaaagggCgcagagtcagagaagcgtgc	16	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24817552C>T	uc002dmm.2	+	16	4391	c.4277C>T	c.(4276-4278)GCG>GTG	p.A1426V	TNRC6A_uc010bxs.2_Missense_Mutation_p.A1173V|TNRC6A_uc002dmn.2_Missense_Mutation_p.A1124V|TNRC6A_uc002dmo.2_Missense_Mutation_p.A1065V|TNRC6A_uc002dmp.2_Missense_Mutation_p.A27V|TNRC6A_uc002dmq.2_Missense_Mutation_p.A93V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1426					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CAGCAAAGGGCGCAGAGTCAG	0.507													T	24817552	C	T	24817552	3	4	172	1	0	0	0	0	1	0	0	0	16337	768	27	1	4339	1	TNRC6A	16	24817552	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1964	24817552	65537201	1413	94525											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942337	24942337	+	Frame_Shift_Del	DEL	G	G	-													tttcctaggggcggagtactGgggggcgttggagtctgggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:24942336_24942336TG>T	uc002dnb.3	-	18	2377	c.2284_2284CA>A	c.(2284-2286)agtfs	p.S762fs	ARHGAP17_uc002dmw.3_Frame_Shift_Del_p.S24fs|ARHGAP17_uc002dmy.3_Frame_Shift_Del_p.S207fs|ARHGAP17_uc002dmz.3_Frame_Shift_Del_p.S286fs|ARHGAP17_uc002dna.3_Frame_Shift_Del_p.S489fs|ARHGAP17_uc002dnc.3_Frame_Shift_Del_p.S684fs|ARHGAP17_uc010vcf.2_Frame_Shift_Del_p.S505fs	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	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)		GGCGGAGTACTGGGGGGCGTT	0.607													-	24942337	G	-	24942337	7	5	172	1	0	1	0	1	0	0	0	0	867	1335	47	0	370	0	ARHGAP17	16	24942337	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	124785	24942337	65412416	1414	94526											
JMJD5	79831	broad.mit.edu	37	chr16	27232030	27232030	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctggatttgagcttctcGgtcagcttctggtggtcgta	13	9	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:27232030G>T	uc002doh.2	+	8	1412	c.1230G>T	c.(1228-1230)TCG>TCT	p.S410S	JMJD5_uc010vcn.1_Silent_p.S448S|JMJD5_uc010bxw.2_Silent_p.S214S|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	410	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						TGAGCTTCTCGGTCAGCTTCT	0.527													T	27232030	G	T	27232030	2	4	172	1	0	0	0	0	0	0	0	1	7952	1103	39	5		5	JMJD5	16	27232030	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2289693	27232030	63122723	1415	94527											
KIAA0556	23247	broad.mit.edu	37	chr16	27751366	27751366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcttatggtttcaggatcTtgacattggtgccaagaacg	10	7	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:27751366T>C	uc002dow.2	+	15	1772	c.1748T>C	c.(1747-1749)CTT>CCT	p.L583P		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	583										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TTTCAGGATCTTGACATTGGT	0.403													C	27751366	T	C	27751366	3	2	172	1	0	0	0	0	1	0	0	0	8183	1609	56	3	1806	3	KIAA0556	16	27751366	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	519336	27751366	62603387	1416	94528											
APOB48R	55911	broad.mit.edu	37	chr16	28508985	28508985	+	Frame_Shift_Del	DEL	G	G	-													tgggagccatggtggaggctGgggggcttctagaaaagtgg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:28508985delG	uc002dqb.1	+	3	2606	c.2596delG	c.(2596-2598)GGGfs	p.G866fs	uc010vct.1_Intron|APOB48R_uc010byg.1_Frame_Shift_Del_p.G404fs	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	866	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						GGTGGAGGCTGGGGGGCTTCT	0.627													-	28508985	G	-	28508985	7	5	172	1	0	1	0	1	0	0	0	0	786	1348	47	0	2606	0	APOB48R	16	28508985	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	757619	28508985	61845768	1417	94529											
SH2B1	25970	broad.mit.edu	37	chr16	28883208	28883209	+	Frame_Shift_Ins	INS	-	-	C													actgcttcccccagagttgcINSccccccgcatccccattgaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:28883207_28883208G>GC	uc002dri.3	+	7	1855_1856	c.1416_1417G>GC	c.(1414-1419)ttgcccfs	p.L472fs	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Frame_Shift_Ins_p.L162fs|SH2B1_uc002drj.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drk.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drl.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc010vdd.2_Frame_Shift_Ins_p.L136fs|SH2B1_uc010vde.2_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drm.3_Frame_Shift_Ins_p.L472fs	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	472	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			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						CCCCAGAGTTGCCCCCCCGCAT	0.629													C	28883209	-	C	28883208	7	5	172	1	0	1	1	0	0	0	0	0	14227	739	26	0	1435	0	SH2B1	16	28883208	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	374223	28883208	61471545	1418	94530											
ZNF48	197407	broad.mit.edu	37	chr16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-													ggacacaccggggggagcagCccccccgaccagtggtgccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:30409310delC	uc002dya.1	+	2	798	c.739delC	c.(739-741)CCCfs	p.P247fs	ZNF48_uc002dxz.1_Frame_Shift_Del_p.P124fs	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGGGAGCAGCCCCCCCGACC	0.637													-	30409310	C	-	30409310	7	5	172	1	0	1	0	1	0	0	0	0	17931	739	26	0	745	0	ZNF48	16	30409310	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	1526102	30409310	59945443	1419	94531											
SRCAP	10847	broad.mit.edu	37	chr16	30727398	30727398	+	Frame_Shift_Del	DEL	T	T	-													tgcttttaggttttgaggccTtttttactgcgccgagttaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:30727397_30727397CT>C	uc002dze.1	+	16	2889	c.2504_2504CT>C	c.(2503-2505)cctfs	p.P835fs	SRCAP_uc021tgn.1_Frame_Shift_Del_p.P835fs|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P692fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	835					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)			GTTTTGAGGCCTTTTTTACTG	0.502													-	30727398	T	-	30727398	7	5	172	1	0	1	0	1	0	0	0	0	15134	1596	56	0	2563	0	SRCAP	16	30727398	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	318088	30727398	59627355	1420	94532											
SRCAP	10847	broad.mit.edu	37	chr16	30750430	30750430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggcccagccagctcccCgtcttggaccgtgacagcac	10	19	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:30750430C>T	uc002dze.1	+	34	9454	c.9069C>T	c.(9067-9069)CCC>CCT	p.P3023P	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.P2818P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3023	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GCCAGCTCCCCGTCTTGGACC	0.607													T	30750430	C	T	30750430	2	4	172	1	0	0	0	0	0	0	0	1	15134	639	23	1		1	SRCAP	16	30750430	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	23032	30750430	59604323	1421	94533											
PRSS36	146547	broad.mit.edu	37	chr16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-													gctcagctccaggagggccaGggggggcctgagtcccaggt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:31151942delG	uc002ebd.2	-	13	2097	c.2038delC	c.(2038-2040)CTGfs	p.L680fs	PRSS36_uc010vff.1_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.1_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.1_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						AGGAGGGCCAGGGGGGGCCTG	0.726													-	31151942	G	-	31151942	7	5	172	1	0	1	0	1	0	0	0	0	12625	991	35	0	541	0	PRSS36	16	31151942	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	401512	31151942	59202811	1422	94534											
SLC5A2	6524	broad.mit.edu	37	chr16	31499991	31499991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggccgcgctcatgtcctCgctggcctccatcttcaaca	9	17	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:31499991C>T	uc002ecf.3	+	10	1197	c.1178C>T	c.(1177-1179)TCG>TTG	p.S393L	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	393	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						CTCATGTCCTCGCTGGCCTCC	0.706													T	31499991	C	T	31499991	3	4	172	1	0	0	0	0	1	0	0	0	14665	893	31	1	1216	1	SLC5A2	16	31499991	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	348049	31499991	58854762	1423	94535											
VPS35	55737	broad.mit.edu	37	chr16	46696158	46696158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggaatgaccttacctcCtccccatttttgtccgtgtt	7	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:46696158C>A	uc002eef.3	-	15	2163	c.2064G>T	c.(2062-2064)GAG>GAT	p.E688D	VPS35_uc002eed.2_Missense_Mutation_p.E509D|VPS35_uc002eee.2_Missense_Mutation_p.E649D	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	688					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		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)				ACCTTACCTCCTCCCCATTTT	0.493													A	46696158	C	A	46696158	3	1	172	1	0	0	0	0	1	0	0	0	17200	680	24	5	338	5	VPS35	16	46696158	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	15196167	46696158	43658595	1424	94536											
NETO2	81831	broad.mit.edu	37	chr16	47165884	47165884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtaagtactttaccttgGgttttttgggccacggcaat	10	7	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:47165884G>A	uc002eer.1	-	2	472	c.87C>T	c.(85-87)ACC>ACT	p.T29T	NETO2_uc002ees.1_Silent_p.T29T	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	29	Extracellular (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTTTACCTTGGGTTTTTTGGG	0.363										HNSCC(25;0.065)			A	47165884	G	A	47165884	2	1	172	1	0	0	0	0	0	0	0	1	10340	1219	43	4		4	NETO2	16	47165884	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	469726	47165884	43188869	1425	94537											
ZNF423	23090	broad.mit.edu	37	chr16	49670272	49670272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaacaaacgttgcactTgtgactgcccttgataaact	8	11	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:49670272T>C	uc002efs.2	-	5	3089	c.2791A>G	c.(2791-2793)AAG>GAG	p.K931E	ZNF423_uc010vgn.1_Missense_Mutation_p.K814E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	931	C2H2-type 22.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				ACGTTGCACTTGTGACTGCCC	0.592													C	49670272	T	C	49670272	3	2	172	1	0	0	0	0	1	0	0	0	17895	1821	63	3	1083	3	ZNF423	16	49670272	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2504388	49670272	40684481	1426	94538											
IRX3	79191	broad.mit.edu	37	chr16	54319087	54319087	+	Frame_Shift_Del	DEL	C	C	-													gccccccgtgtcctcctcctCccccccgagctcctcctcct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:54319087delC	uc002eht.1	-	2	1122	c.706delG	c.(706-708)GAGfs	p.E236fs		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	236	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						tcctcctcctcccccccgagc	0.284													-	54319087	C	-	54319087	7	5	172	1	0	1	0	1	0	0	0	0	7845	864	30	0	811	0	IRX3	16	54319087	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	4648815	54319087	36035666	1427	94539											
IRX6	79190	broad.mit.edu	37	chr16	55363169	55363169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgctgaactgtgcgccgTgcccgcggaggagcgagcct	15	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:55363169T>C	uc002ehy.2	+	5	1812	c.1279T>C	c.(1279-1281)TGC>CGC	p.C427R	IRX6_uc002ehx.2_Missense_Mutation_p.C427R	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	427						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTGTGCGCCGTGCCCGCGGAG	0.617													C	55363169	T	C	55363169	3	2	172	1	0	0	0	0	1	0	0	0	7848	1696	59	3	1297	3	IRX6	16	55363169	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1044082	55363169	34991584	1428	94540											
MT2A	4502	broad.mit.edu	37	chr16	56643249	56643249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggggcgtcggacaagTgcagctgctgcgcctgatgc	16	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:56643249T>C	uc002ejh.2	+	3	259	c.169T>C	c.(169-171)TGC>CGC	p.C57R	MT1A_uc002eji.2_Intron	NM_005953	NP_005944	P02795	MT2_HUMAN	metallothionein 2A	57	Alpha.	Divalent metal cation; cluster A.			cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding				0						GTCGGACAAGTGCAGCTGCTG	0.617													C	56643249	T	C	56643249	3	2	172	1	0	0	0	0	1	0	0	0	9905	1696	59	3	179	3	MT2A	16	56643249	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1280080	56643249	33711504	1429	94541											
NLRC5	84166	broad.mit.edu	37	chr16	57067548	57067548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaaagtgacggccagaGgaaaggggctcagagcagaa	17	7	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:57067548G>T	uc002ekk.1	+	12	2735	c.2510G>T	c.(2509-2511)AGG>ATG	p.R837M	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R586M|NLRC5_uc002ekl.2_Missense_Mutation_p.R642M|NLRC5_uc002ekm.2_Missense_Mutation_p.R642M|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	837					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GACGGCCAGAGGAAAGGGGCT	0.552													T	57067548	G	T	57067548	3	4	172	1	0	0	0	0	1	0	0	0	10470	1000	35	5	2548	5	NLRC5	16	57067548	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	424299	57067548	33287205	1430	94542											
CX3CL1	6376	broad.mit.edu	37	chr16	57416105	57416105	+	Frame_Shift_Del	DEL	G	G	-													ccaggaccacccctgccgccGggggaatggacgagtctgtg					rs147669719		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:57416105delG	uc002eli.2	+	3	422	c.355delG	c.(355-357)GGGfs	p.G119fs		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	119	Mucin-like stalk.|Extracellular (Potential).				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				0						CCCTGCCGCCGGGGGAATGGA	0.647													-	57416105	G	-	57416105	7	5	172	1	0	1	0	1	0	0	0	0	4074	1116	39	0	365	0	CX3CL1	16	57416105	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	348557	57416105	32938648	1431	94543											
CNOT1	23019	broad.mit.edu	37	chr16	58619303	58619303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagagctctccatcatggTtttagctacccctccggaat	7	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:58619303T>C	uc002env.2	-	8	1038	c.745A>G	c.(745-747)ACC>GCC	p.T249A	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.T249A|CNOT1_uc002enx.2_Missense_Mutation_p.T249A|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	249					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCATCATGGTTTTAGCTACC	0.458													C	58619303	T	C	58619303	3	2	172	1	0	0	0	0	1	0	0	0	3617	1725	60	3	6775	3	CNOT1	16	58619303	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1203198	58619303	31735450	1432	94544											
CDH11	1009	broad.mit.edu	37	chr16	64981761	64981761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgacatccacgctgttGggcgctggccggagcccagg	14	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:64981761G>A	uc002eoi.2	-	13	2570	c.2136C>T	c.(2134-2136)CCC>CCT	p.P712P	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.P586P	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	712	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCACGCTGTTGGGCGCTGGCC	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	64981761	G	A	64981761	2	1	172	1	0	0	0	0	0	0	0	1	3097	1335	47	4		4	CDH11	16	64981761	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6362458	64981761	25372992	1433	94545											
CMTM3	123920	broad.mit.edu	37	chr16	66643409	66643409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccatcgccaagtactcGgatggggcttccaaagccgc	12	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:66643409G>A	uc002epu.2	+	4	634	c.375G>A	c.(373-375)TCG>TCA	p.S125S	CMTM3_uc002epv.2_Silent_p.S125S|CMTM3_uc002epw.2_Silent_p.S125S|CMTM3_uc002epx.2_Silent_p.S125S|CMTM3_uc002epy.2_RNA	NM_001048251	NP_001041716	Q96MX0	CKLF3_HUMAN	chemokine-like factor superfamily 3	125	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CCAAGTACTCGGATGGGGCTT	0.632													A	66643409	G	A	66643409	2	1	172	1	0	0	0	0	0	0	0	1	3584	1103	39	1		1	CMTM3	16	66643409	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1661648	66643409	23711344	1434	94546											
CA7	766	broad.mit.edu	37	chr16	66880978	66880978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccattgcccagggagatcGccaatcacccatcaatatca	6	15	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:66880978G>A	uc002eqi.2	+	2	195	c.86G>A	c.(85-87)CGC>CAC	p.R29H	uc002eqh.2_Intron|CA7_uc002eqj.2_5'UTR	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	29					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAGGGAGATCGCCAATCACCC	0.592													A	66880978	G	A	66880978	3	1	172	1	0	0	0	0	1	0	0	0	2522	1087	38	1	92	1	CA7	16	66880978	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	237569	66880978	23473775	1435	94547											
CES8	283848	broad.mit.edu	37	chr16	67040713	67040713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactgggccaactttgccCgcacagggtgagtctgcccc	11	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67040713C>T	uc002eqv.2	+	11	1343	c.1300C>T	c.(1300-1302)CGC>TGC	p.R434C	CES8_uc010vix.1_Intron|CES8_uc002eqw.2_Intron|CES8_uc002eqy.2_Missense_Mutation_p.R406C|CES8_uc002eqx.2_Missense_Mutation_p.R310C|CES8_uc010viy.1_Intron|CES8_uc010viz.1_Missense_Mutation_p.R406C|CES8_uc002eqz.2_Intron	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	504						extracellular region	carboxylesterase activity				0						CAACTTTGCCCGCACAGGGTG	0.567													T	67040713	C	T	67040713	3	4	172	1	0	0	0	0	1	0	0	0	3273	652	23	1	1641	1	CES8	16	67040713	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	159735	67040713	23314040	1436	94548											
EXOC3L	283849	broad.mit.edu	37	chr16	67221443	67221443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgctgacgccagtccCgggggacctggcccaggggg	18	14	0	1	rs141744902	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67221443C>T	uc002erx.1	-	5	966	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.R186Q|EXOC3L_uc010vje.1_Missense_Mutation_p.R181Q	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	242	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		ACGCCAGTCCCGGGGGACCTG	0.692													T	67221443	C	T	67221443	3	4	172	1	0	0	0	0	1	0	0	0	5304	652	23	1	1555	1	EXOC3L	16	67221443	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	180730	67221443	23133310	1437	94549											
PLEKHG4	25894	broad.mit.edu	37	chr16	67314806	67314806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcgggatgtccaaggccGggcagtgctgcttctgtgtg	16	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67314806G>A	uc002eso.3	+	3	3152	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	PLEKHG4_uc002esp.3_Missense_Mutation_p.R13Q|PLEKHG4_uc002esq.3_Missense_Mutation_p.R206Q|PLEKHG4_uc002esr.1_Missense_Mutation_p.R54Q|PLEKHG4_uc010cef.2_Missense_Mutation_p.R206Q|PLEKHG4_uc002ess.3_Missense_Mutation_p.R206Q|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R125Q	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	206					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTCCAAGGCCGGGCAGTGCTG	0.647													A	67314806	G	A	67314806	3	1	172	1	0	0	0	0	1	0	0	0	12071	1116	39	1	627	1	PLEKHG4	16	67314806	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	93363	67314806	23039947	1438	94550											
HSD11B2	3291	broad.mit.edu	37	chr16	67470195	67470195	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctatggaacctccaaAgcggccgtggcgctactcat	13	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67470195A>C	uc002etd.2	+	4	824	c.708A>C	c.(706-708)AAA>AAC	p.K236N		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	236					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GAACCTCCAAAGCGGCCGTGG	0.577													C	67470195	A	C	67470195	3	2	172	1	0	0	0	0	1	0	0	0	7377	69	3	5	722	5	HSD11B2	16	67470195	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	155389	67470195	22884558	1439	94551											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477028	67477028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggtgttgcggatgatctCgatgttcatctcgtcaaggt	14	7	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67477028C>T	uc002ete.1	-	4	635	c.535G>A	c.(535-537)GAG>AAG	p.E179K	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.E220K|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.E102K	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	179					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					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGATGATCTCGATGTTCATC	0.572													T	67477028	C	T	67477028	3	4	172	1	0	0	0	0	1	0	0	0	1173	893	31	1	540	1	ATP6V0D1	16	67477028	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	6833	67477028	22877725	1440	94552											
CTCF	10664	broad.mit.edu	37	chr16	67670738	67670738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctggcagaaccaaccaGcccaaacagaaccagcgtaa	7	17	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67670738G>A	uc002etl.2	+	11	2273	c.1983G>A	c.(1981-1983)CAG>CAA	p.Q661Q	CTCF_uc010cek.2_Silent_p.Q333Q|CTCF_uc002etm.1_Silent_p.Q150Q	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	661					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			ovary(1)	1		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)		GAACCAACCAGCCCAAACAGA	0.597													A	67670738	G	A	67670738	2	1	172	1	0	0	0	0	0	0	0	1	4000	962	34	2		2	CTCF	16	67670738	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	193710	67670738	22684015	1441	94553											
RANBP10	57610	broad.mit.edu	37	chr16	67763281	67763281	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggatggggaagaggacgaGgaggaggaggaggacgagga	24	2	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67763281G>C	uc002eud.2	-	10	1370	c.1254C>G	c.(1252-1254)TCC>TCG	p.S418S	RANBP10_uc010ceo.2_Silent_p.S189S|RANBP10_uc010vju.1_Silent_p.S362S|RANBP10_uc010vjv.1_Silent_p.S301S|RANBP10_uc010vjw.1_Silent_p.S79S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.									ovary(1)	1		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)		aagaggacgaggaggaggagg	0.408													C	67763281	G	C	67763281	2	2	172	1	0	0	0	0	0	0	0	1	13026	987	35	5		5	RANBP10	16	67763281	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	92543	67763281	22591472	1442	94554											
PSKH1	5681	broad.mit.edu	37	chr16	67943103	67943103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgtgctgcgtcgggtgCgtcatgccaacatcatccag	13	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:67943103C>T	uc002euv.2	+	2	621	c.451C>T	c.(451-453)CGT>TGT	p.R151C	PSKH1_uc010cet.2_Missense_Mutation_p.R151C	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	151	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GCGTCGGGTGCGTCATGCCAA	0.612													T	67943103	C	T	67943103	3	4	172	1	0	0	0	0	1	0	0	0	12664	768	27	1	453	1	PSKH1	16	67943103	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	179822	67943103	22411650	1443	94555											
PLA2G15	23659	broad.mit.edu	37	chr16	68279440	68279440	+	Frame_Shift_Del	DEL	C	C	-													gcgctcccggccggacgtcaCcccccagtggtgctgggtga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:68279440delC	uc002evr.2	+	1	194	c.111delC	c.(109-111)CACfs	p.H37fs	PLA2G15_uc010vld.1_Frame_Shift_Del_p.H37fs|PLA2G15_uc010vle.1_Frame_Shift_Del_p.H37fs|PLA2G15_uc010vlf.1_Frame_Shift_Del_p.H37fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	37					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						CCGGACGTCACCCCCCAGTGG	0.711													-	68279440	C	-	68279440	7	5	172	1	0	1	0	1	0	0	0	0	11992	506	18	0	113	0	PLA2G15	16	68279440	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	336337	68279440	22075313	1444	94556											
SLC7A6	9057	broad.mit.edu	37	chr16	68308738	68308738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccacctcaaaggtcctccGaaactatgcagctgaagaag	9	13	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:68308738G>A	uc002evt.1	+	4	418	c.109G>A	c.(109-111)GAA>AAA	p.E37K	SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.E37K|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	37	Cytoplasmic (Potential).				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			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AAGGTCCTCCGAAACTATGCA	0.577													A	68308738	G	A	68308738	3	1	172	1	0	0	0	0	1	0	0	0	14701	1059	37	1	111	1	SLC7A6	16	68308738	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	29298	68308738	22046015	1445	94557											
SMPD3	55512	broad.mit.edu	37	chr16	68405541	68405541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaggctgctgaagctagCggcgctgatggaggtattgg	16	9	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:68405541C>T	uc002ewa.2	-	3	966	c.544G>A	c.(544-546)GCT>ACT	p.A182T	SMPD3_uc010cfe.2_Missense_Mutation_p.A182T|SMPD3_uc010vlh.1_Missense_Mutation_p.A182T	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	182	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTGAAGCTAGCGGCGCTGATG	0.637													T	68405541	C	T	68405541	3	4	172	1	0	0	0	0	1	0	0	0	14806	768	27	1	1451	1	SMPD3	16	68405541	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	96803	68405541	21949212	1446	94558											
HAS3	3038	broad.mit.edu	37	chr16	69143627	69143627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgcgctcggcccagcGcatctccttccctgacctca	9	19	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:69143627G>A	uc010cfh.2	+	2	553	c.329G>A	c.(328-330)CGC>CAC	p.R110H	HAS3_uc002ewk.2_Missense_Mutation_p.R110H|HAS3_uc010vlk.1_Missense_Mutation_p.R110H|HAS3_uc002ewl.2_Missense_Mutation_p.R110H	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	110	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCGGCCCAGCGCATCTCCTTC	0.657													A	69143627	G	A	69143627	3	1	172	1	0	0	0	0	1	0	0	0	6963	1087	38	1	331	1	HAS3	16	69143627	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	738086	69143627	21211126	1447	94559											
SNTB2	6645	broad.mit.edu	37	chr16	69317980	69317980	+	Frame_Shift_Del	DEL	C	C	-													ttctggctccggatgtcgatCcccctcccttggatctgacc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:69317980delC	uc002ewu.2	+	5	1198	c.1178delC	c.(1177-1179)TCCfs	p.S393fs		NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	393	PH 2.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGATGTCGATCCCCCTCCCTT	0.483													-	69317980	C	-	69317980	7	5	172	1	0	1	0	1	0	0	0	0	14873	855	30	0	1196	0	SNTB2	16	69317980	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	174353	69317980	21036773	1448	94560											
TERF2	7014	broad.mit.edu	37	chr16	69404408	69404408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaggtagggctcggcgTcatccaggtggctctccagg	17	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:69404408T>C	uc002exd.2	-	5	817	c.692A>G	c.(691-693)GAC>GGC	p.D231G	TERF2_uc002exe.2_Missense_Mutation_p.D231G	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	231	TRFH dimerization.				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			lung(1)	1		Ovarian(137;0.101)				GGGCTCGGCGTCATCCAGGTG	0.517													C	69404408	T	C	69404408	3	2	172	1	0	0	0	0	1	0	0	0	15759	1667	58	3	834	3	TERF2	16	69404408	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	86428	69404408	20950345	1449	94561											
COG4	25839	broad.mit.edu	37	chr16	70517769	70517769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttacctgcaagaggtctCggaatttgttggacacggcg	14	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:70517769C>T	uc002ezc.2	-	14	1825	c.1814G>A	c.(1813-1815)CGA>CAA	p.R605Q	COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.R61Q|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R584Q|COG4_uc002eze.2_Missense_Mutation_p.R299Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	601					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CAAGAGGTCTCGGAATTTGTT	0.552													T	70517769	C	T	70517769	3	4	172	1	0	0	0	0	1	0	0	0	3660	884	31	1	579	1	COG4	16	70517769	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1113361	70517769	19836984	1450	94562											
SF3B3	23450	broad.mit.edu	37	chr16	70590798	70590798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccctctcaggactgtttgCaacctctaagcatgcaggct	8	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:70590798C>A	uc002ezf.2	+	15	2087	c.1876C>A	c.(1876-1878)CAA>AAA	p.Q626K		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	626					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GGACTGTTTGCAACCTCTAAG	0.448													A	70590798	C	A	70590798	3	1	172	1	0	0	0	0	1	0	0	0	14152	711	25	5	1930	5	SF3B3	16	70590798	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	73029	70590798	19763955	1451	94563											
DHX38	9785	broad.mit.edu	37	chr16	72143405	72143405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaggcgggcaagtcacGgcaggtgaggattctgtgct	16	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:72143405G>A	uc002fcb.2	+	25	3828	c.3473G>A	c.(3472-3474)CGG>CAG	p.R1158Q	DHX38_uc010vmp.1_Missense_Mutation_p.R470Q	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1158					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			skin(1)	1		Ovarian(137;0.125)				GGCAAGTCACGGCAGGTGAGG	0.597													A	72143405	G	A	72143405	3	1	172	1	0	0	0	0	1	0	0	0	4511	1116	39	1	3567	1	DHX38	16	72143405	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1552607	72143405	18211348	1452	94564											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356327	77356327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaaaaaaattcaaagTtctcagccttgcagtacagt	6	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:77356327T>C	uc002ffc.3	-	14	2488	c.2069A>G	c.(2068-2070)AAC>AGC	p.N690S	ADAMTS18_uc010chc.1_Missense_Mutation_p.N278S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.N386S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	690	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AAATTCAAAGTTCTCAGCCTT	0.388													C	77356327	T	C	77356327	3	2	172	1	0	0	0	0	1	0	0	0	263	1725	60	3	1636	3	ADAMTS18	16	77356327	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5212922	77356327	12998426	1453	94565											
SLC38A8	146167	broad.mit.edu	37	chr16	84067036	84067036	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctgcgtaccacggctGcggggcgggcggggtgccag	20	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:84067036G>A	uc002fhg.1	-	3	427	c.427C>T	c.(427-429)CAG>TAG	p.Q143*		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	143					amino acid transport|sodium ion transport	integral to membrane					0						TACCACGGCTGCGGGGCGGGC	0.657													A	84067036	G	A	84067036	4	1	172	1	0	0	0	0	0	1	0	0	14610	1328	46	2	912	2	SLC38A8	16	84067036	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6710709	84067036	6287717	1454	94566											
MBTPS1	8720	broad.mit.edu	37	chr16	84126839	84126839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagttctgcatctggaGcaaatccttggcactccctc	9	12	2	1	rs149564178	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:84126839G>A	uc002fhi.2	-	6	1302	c.800C>T	c.(799-801)GCT>GTT	p.A267V		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	267	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TGCATCTGGAGCAAATCCTTG	0.438													A	84126839	G	A	84126839	3	1	172	1	0	0	0	0	1	0	0	0	9361	971	34	2	2430	2	MBTPS1	16	84126839	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	59803	84126839	6227914	1455	94567											
ZDHHC7	55625	broad.mit.edu	37	chr16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-													ggattcatccagaggagtgaGgggggccccccaaagacgga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:85010039delG	uc002fiq.2	-	8	1190	c.837delC	c.(835-837)CCCfs	p.P279fs	ZDHHC7_uc010voi.1_Frame_Shift_Del_p.P316fs|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	279						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						AGAGGAGTGAGGGGGGCCCCC	0.587													-	85010039	G	-	85010039	7	5	172	1	0	1	0	1	0	0	0	0	17617	987	35	0	93	0	ZDHHC7	16	85010039	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	883200	85010039	5344714	1456	94568											
ANKRD11	29123	broad.mit.edu	37	chr16	89383423	89383423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttagggcacccacccttgGgcatcgtcctgctcctcacc	8	18	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89383423G>A	uc002fmx.1	-	3	466	c.5C>T	c.(4-6)CCC>CTC	p.P2L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnd.2_5'UTR|ANKRD11_uc002fne.2_5'UTR|ANKRD11_uc002fng.1_Missense_Mutation_p.P2L|ANKRD11_uc002fnf.1_Missense_Mutation_p.P2L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		CCCACCCTTGGGCATCGTCCT	0.542													A	89383423	G	A	89383423	3	1	172	1	0	0	0	0	1	0	0	0	639	1232	43	4	8030	4	ANKRD11	16	89383423	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4373384	89383423	971330	1457	94569											
SPG7	6687	broad.mit.edu	37	chr16	89616910	89616910	+	Frame_Shift_Del	DEL	A	A	-													gcattctttcagggactgccAaaaagagcaagatcctgtcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89616909_89616909CA>C	uc002fnj.3	+	12	1692	c.1671_1671CA>C	c.(1669-1671)gccfs	p.A557fs	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_5'UTR	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	557					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)		CAGGGACTGCCAAAAAGAGCA	0.607													-	89616910	A	-	89616910	7	5	172	1	0	1	0	1	0	0	0	0	15043	131	5	0	1872	0	SPG7	16	89616910	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	233487	89616910	737843	1458	94570											
FANCA	2175	broad.mit.edu	37	chr16	89857811	89857811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgattggcaggtcacttacCttgaaccagtctgcatatga	9	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89857811C>A	uc002fou.1	-	14	1401	c.1359G>T	c.(1357-1359)AAG>AAT	p.K453N	FANCA_uc010vpn.1_Missense_Mutation_p.K453N	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	453					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGTCACTTACCTTGAACCAGT	0.572			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	89857811	C	A	89857811	3	1	172	1	0	0	0	0	1	0	0	0	5662	695	24	5	3128	5	FANCA	16	89857811	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	240901	89857811	496942	1459	94571											
TUBB3	10381	broad.mit.edu	37	chr16	89999011	89999011	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagtgatgagcatggcatCgaccccagcggcaactacgt	11	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:89999011C>T	uc002fph.1	+	2	155	c.90C>T	c.(88-90)ATC>ATT	p.I30I	TUBB3_uc002fpf.2_Silent_p.I377I|TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.1_RNA|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fpi.1_5'UTR|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	30					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		AGCATGGCATCGACCCCAGCG	0.622													T	89999011	C	T	89999011	2	4	172	1	0	0	0	0	0	0	0	1	16754	874	31	1		1	TUBB3	16	89999011	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	141200	89999011	355742	1460	94572											
TUBB3	10381	broad.mit.edu	37	chr16	90001305	90001305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggctccggcatgggcaCgttgctcatcagcaaggtgc	14	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr16:90001305C>T	uc002fph.1	+	4	511	c.446C>T	c.(445-447)ACG>ATG	p.T149M	TUBB3_uc002fpf.2_Missense_Mutation_p.T496M|TUBB3_uc010ciz.1_Missense_Mutation_p.T77M|TUBB3_uc002fpg.1_Missense_Mutation_p.T3M|TUBB3_uc002fpi.1_Missense_Mutation_p.T77M|TUBB3_uc002fpj.1_Missense_Mutation_p.T77M|TUBB3_uc010cjb.1_Missense_Mutation_p.T3M|TUBB3_uc002fpk.1_Missense_Mutation_p.T3M	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	149					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		GGCATGGGCACGTTGCTCATC	0.637													T	90001305	C	T	90001305	3	4	172	1	0	0	0	0	1	0	0	0	16754	536	19	1	460	1	TUBB3	16	90001305	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2294	90001305	353448	1461	94573											
RPH3AL	9501	broad.mit.edu	37	chr17	63688	63689	+	Frame_Shift_Ins	INS	-	-	G													ctggagctgcgtcagcagcgINSggggctcgtccaggtgtgtc					rs138540198		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:63687_63688C>CG	uc002fre.2	-	9	1246_1247	c.903_904G>CG	c.(901-906)cccgctfs	p.P301fs	RPH3AL_uc010vpy.2_Frame_Shift_Ins_p.R252fs|RPH3AL_uc021tmx.1_Frame_Shift_Ins_p.P301fs|RPH3AL_uc002frf.2_Frame_Shift_Ins_p.P272fs|RPH3AL_uc010cjl.2_Frame_Shift_Ins_p.P272fs	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	301					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein 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)		GCGTCAGCAGCGGGGGCTCGTC	0.639													G	63689	-	G	63688	7	5	172	1	0	1	1	0	0	0	0	0	13552	1103	39	0	48	0	RPH3AL	17	63688	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08		63688	81131522	1462	94574											
GLOD4	51031	broad.mit.edu	37	chr17	685454	685454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccgtctggaagcggttTcccactttgaatacgaagtg	12	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:685454T>C	uc002frv.2	-	1	118	c.42A>G	c.(40-42)GGA>GGG	p.G14G	GLOD4_uc002fru.2_Silent_p.G14G|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	14						mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGAAGCGGTTTCCCACTTTGA	0.677													C	685454	T	C	685454	2	2	172	1	0	0	0	0	0	0	0	1	6450	1770	62	3		3	GLOD4	17	685454	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	621766	685454	80509756	1463	94575											
NXN	64359	broad.mit.edu	37	chr17	729260	729260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaaccttcccagtggtgGcgtcgaggaatattagtgat	11	9	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:729260G>A	uc002fsa.2	-	2	511	c.419C>T	c.(418-420)GCC>GTC	p.A140V	NXN_uc002fsb.1_Missense_Mutation_p.A27V|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.A32V	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	140					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CCCAGTGGTGGCGTCGAGGAA	0.468													A	729260	G	A	729260	3	1	172	1	0	0	0	0	1	0	0	0	10787	1203	42	2	916	2	NXN	17	729260	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	43806	729260	80465950	1464	94576											
SGSM2	9905	broad.mit.edu	37	chr17	2282378	2282378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaggtgatctgggcagCcaggcacatctcatcggagc	16	10	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:2282378C>T	uc002fun.3	+	22	2988	c.2813C>T	c.(2812-2814)GCC>GTC	p.A938V	SGSM2_uc002fum.3_Missense_Mutation_p.A983V|SGSM2_uc010vqw.1_Missense_Mutation_p.A938V|SGSM2_uc002fup.1_Missense_Mutation_p.A116V|SGSM2_uc002fuq.2_Missense_Mutation_p.A100V	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	938	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ATCTGGGCAGCCAGGCACATC	0.547													T	2282378	C	T	2282378	3	4	172	1	0	0	0	0	1	0	0	0	14223	739	26	2	3038	2	SGSM2	17	2282378	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1553118	2282378	78912832	1465	94577											
METT10D	79066	broad.mit.edu	37	chr17	2323528	2323528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgacaactttccaaaacCtccacccctcccttttcctc	1	20	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:2323528C>A	uc002fut.2	-	10	1573	c.1425G>T	c.(1423-1425)GAG>GAT	p.E475D	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Missense_Mutation_p.E257D	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	475							methyltransferase activity				0						TTTCCAAAACCTCCACCCCTC	0.612													A	2323528	C	A	2323528	3	1	172	1	0	0	0	0	1	0	0	0	9490	680	24	5	267	5	METT10D	17	2323528	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	41150	2323528	78871682	1466	94578											
TRPV3	162514	broad.mit.edu	37	chr17	3417934	3417934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttaaggaaggagacgtgcGtcttccattcagtccacttc	10	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:3417934G>A	uc002fvt.1	-	17	2553	c.2231C>T	c.(2230-2232)ACG>ATG	p.T744M	SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.T728M|TRPV3_uc010vri.1_Missense_Mutation_p.T699M|TRPV3_uc010vrj.1_Missense_Mutation_p.T728M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.T728M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.T744M|TRPV3_uc002fvu.2_Missense_Mutation_p.T744M	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	744	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	GGAGACGTGCGTCTTCCATTC	0.473													A	3417934	G	A	3417934	3	1	172	1	0	0	0	0	1	0	0	0	16594	1145	40	1	149	1	TRPV3	17	3417934	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1094406	3417934	77777276	1467	94579											
CTNS	1497	broad.mit.edu	37	chr17	3560021	3560021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaccccgtgaacagcaacGacgtcttcttcagcctgcac	8	15	3	2	rs113994208		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:3560021G>A	uc002fwb.2	+	9	1206	c.613G>A	c.(613-615)GAC>AAC	p.D205N	CTNS_uc002fwa.2_Missense_Mutation_p.D205N|CTNS_uc010ckj.2_Missense_Mutation_p.D205N|CTNS_uc010vrv.1_Missense_Mutation_p.D58N|CTNS_uc010vrw.1_Missense_Mutation_p.D97N	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	205	Lumenal (Potential).		Missing (in CTNS).|D -> N (in CTNS).		ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GAACAGCAACGACGTCTTCTT	0.617													A	3560021	G	A	3560021	3	1	172	1	0	0	0	0	1	0	0	0	4021	1058	37	1	639	1	CTNS	17	3560021	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	142087	3560021	77635189	1468	94580											
CHRNE	1145	broad.mit.edu	37	chr17	4804184	4804184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacgttgatggagaccGtgcatttctggccgccggct	15	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:4804184G>A	uc002fzk.1	-	8	832	c.821C>T	c.(820-822)ACG>ATG	p.T274M	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	274	Helical; (Potential).				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				0						GATGGAGACCGTGCATTTCTG	0.647													A	4804184	G	A	4804184	3	1	172	1	0	0	0	0	1	0	0	0	3395	1145	40	1	680	1	CHRNE	17	4804184	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1244163	4804184	76391026	1469	94581											
SPAG7	9552	broad.mit.edu	37	chr17	4864151	4864151	+	Splice_Site	DEL	G	G	-													tcaggcgggcggcctgttctGggggtgagaaatggcaacat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:4864150_4864150TG>T	uc002gae.3	-	2	119	c.86_splice	c.e2-1	p.E29_splice	SPAG7_uc002gaf.3_Splice_Site_p.E29_splice	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	29						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CGGCCTGTTCTGGGGGTGAGA	0.512													-	4864151	G	-	4864151	8	5	172	1	0	1	0	1	0	0	1	0	14983	1363	47	0		0	SPAG7	17	4864151	Splice_Site	DEL	G	TCGA-CG-4442-01A-01D-1158-08	59967	4864151	76331059	1470	94582											
ZNF594	84622	broad.mit.edu	37	chr17	5086206	5086206	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtatgaacacgatggtgtCtaataagatctgagctgccc	10	9	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:5086206C>T	uc010cla.1	-	2	1502	c.1346G>A	c.(1345-1347)AGA>AAA	p.R449K		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	449	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						ACGATGGTGTCTAATAAGATC	0.423													T	5086206	C	T	5086206	3	4	172	1	0	0	0	0	1	0	0	0	18021	913	32	4	1081	4	ZNF594	17	5086206	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	222055	5086206	76109004	1471	94583											
NLRP1	22861	broad.mit.edu	37	chr17	5456824	5456824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtttctggtgaccttgaGgacggagaagagaatctgcc	14	8	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:5456824G>T	uc002gci.2	-	5	2965	c.2410C>A	c.(2410-2412)CTC>ATC	p.L804I	NLRP1_uc002gcg.1_Missense_Mutation_p.L804I|NLRP1_uc002gck.2_Missense_Mutation_p.L804I|NLRP1_uc002gcj.2_Missense_Mutation_p.L804I|NLRP1_uc002gcl.2_Missense_Mutation_p.L804I|NLRP1_uc002gch.3_Missense_Mutation_p.L804I|NLRP1_uc010clh.2_Missense_Mutation_p.L804I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	804					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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GTGACCTTGAGGACGGAGAAG	0.552													T	5456824	G	T	5456824	3	4	172	1	0	0	0	0	1	0	0	0	10471	1000	35	5	2138	5	NLRP1	17	5456824	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	370618	5456824	75738386	1472	94584											
AIPL1	23746	broad.mit.edu	37	chr17	6337403	6337403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcacatttcatggtgcGgaaatgaaagatcacctagt	8	9	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:6337403G>A	uc002gcp.2	-	2	207	c.112C>T	c.(112-114)CGC>TGC	p.R38C	AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.R38C|AIPL1_uc010clk.2_Intron|AIPL1_uc010cll.2_Missense_Mutation_p.R38C|AIPL1_uc002gcs.2_Missense_Mutation_p.R38C	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	38					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		TTCATGGTGCGGAAATGAAAG	0.567													A	6337403	G	A	6337403	3	1	172	1	0	0	0	0	1	0	0	0	436	1116	39	1	1062	1	AIPL1	17	6337403	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	880579	6337403	74857807	1473	94585											
SLC16A11	162515	broad.mit.edu	37	chr17	6945418	6945418	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagcccggggagtacaccGaaaaccagcggggcgtaact	13	13	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:6945418G>A	uc002gei.1	-	3	1421	c.1083C>T	c.(1081-1083)TTC>TTT	p.F361F		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	361	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						GGAGTACACCGAAAACCAGCG	0.711													A	6945418	G	A	6945418	2	1	172	1	0	0	0	0	0	0	0	1	14404	1049	37	1		1	SLC16A11	17	6945418	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	608015	6945418	74249792	1474	94586											
FXR2	9513	broad.mit.edu	37	chr17	7496122	7496123	+	Frame_Shift_Ins	INS	-	-	G													gcggcgcctggcacttgctgINSgggggggttccccaggttct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:7496121_7496122T>TG	uc002gia.2	-	13	1984_1985	c.1619_1620A>CA	c.(1618-1620)ccafs	p.P540fs	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	540						cytosolic large ribosomal subunit	RNA binding|protein binding	p.P540fs*32(2)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609													G	7496123	-	G	7496122	7	5	172	1	0	1	1	0	0	0	0	0	6116	1348	47	0	318	0	FXR2	17	7496122	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	550704	7496122	73699088	1475	94587											
DNAH2	146754	broad.mit.edu	37	chr17	7681430	7681430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccgccagaccaacacGcaatttcagtataattatga	6	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:7681430G>A	uc002giu.1	+	33	5297	c.5283G>A	c.(5281-5283)ACG>ACA	p.T1761T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1761	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGACCAACACGCAATTTCAGT	0.532													A	7681430	G	A	7681430	2	1	172	1	0	0	0	0	0	0	0	1	4602	1074	38	1		1	DNAH2	17	7681430	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	185308	7681430	73513780	1476	94588											
DNAH2	146754	broad.mit.edu	37	chr17	7701025	7701025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaggagcccaaggtgtAtgaagacctcacggatctga	12	10	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:7701025A>G	uc002giu.1	+	52	8122	c.8108A>G	c.(8107-8109)TAT>TGT	p.Y2703C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2703					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGGTGTATGAAGACCTC	0.542													G	7701025	A	G	7701025	3	3	172	1	0	0	0	0	1	0	0	0	4602	449	16	3	8314	3	DNAH2	17	7701025	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	19595	7701025	73494185	1477	94589											
PER1	5187	broad.mit.edu	37	chr17	8050660	8050660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggggatgtcacggcgcCgactccacagagtcccgtgg	15	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8050660C>T	uc002gkd.2	-	13	1775	c.1537G>A	c.(1537-1539)GGC>AGC	p.G513S	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.G497S	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	513					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						GTCACGGCGCCGACTCCACAG	0.662			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					T	8050660	C	T	8050660	3	4	172	1	0	0	0	0	1	0	0	0	11729	652	23	1	2379	1	PER1	17	8050660	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	349635	8050660	73144550	1478	94590											
PER1	5187	broad.mit.edu	37	chr17	8050889	8050889	+	Frame_Shift_Del	DEL	G	G	-													agtgaacacgtcctcattcaGgggggccctgtagagtgaag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8050889delG	uc002gkd.2	-	12	1634	c.1396delC	c.(1396-1398)CTGfs	p.L466fs	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Frame_Shift_Del_p.L450fs	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	466					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						TCCTCATTCAGGGGGGCCCTG	0.657			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					-	8050889	G	-	8050889	7	5	172	1	0	1	0	1	0	0	0	0	11729	991	35	0	2524	0	PER1	17	8050889	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	229	8050889	73144321	1479	94591											
MYH10	4628	broad.mit.edu	37	chr17	8390804	8390804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgagctttgttcgcagcctCgatttgggcttcgaggtcct	12	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8390804C>T	uc002gll.2	-	34	4996	c.4900G>A	c.(4900-4902)GAG>AAG	p.E1634K	MYH10_uc002glm.2_Missense_Mutation_p.E1665K|MYH10_uc010cnx.2_Missense_Mutation_p.E1643K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1634	Potential.				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			ovary(2)	2						TTCGCAGCCTCGATTTGGGCT	0.552													T	8390804	C	T	8390804	3	4	172	1	0	0	0	0	1	0	0	0	10030	893	31	1	1062	1	MYH10	17	8390804	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	339915	8390804	72804406	1480	94592											
MFSD6L	162387	broad.mit.edu	37	chr17	8700779	8700779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggacagcagcttcgAgtacttgattttccgctctc	8	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:8700779A>G	uc002glp.1	-	1	1808	c.1660T>C	c.(1660-1662)TCG>CCG	p.S554P		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	554						integral to membrane				central_nervous_system(1)	1						AGCAGCTTCGAGTACTTGATT	0.587													G	8700779	A	G	8700779	3	3	172	1	0	0	0	0	1	0	0	0	9536	304	11	3	104	3	MFSD6L	17	8700779	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	309975	8700779	72494431	1481	94593											
WDR16	146845	broad.mit.edu	37	chr17	9515752	9515752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaaagagacgctcatAgcgacttgtcactttgatgc	9	9	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:9515752A>G	uc002gly.2	+	8	1050	c.981A>G	c.(979-981)ATA>ATG	p.I327M	WDR16_uc002glz.2_Missense_Mutation_p.I259M|WDR16_uc010coc.2_Missense_Mutation_p.I337M	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	327	WD 4.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGACGCTCATAGCGACTTGTC	0.418													G	9515752	A	G	9515752	3	3	172	1	0	0	0	0	1	0	0	0	17273	410	15	3	1011	3	WDR16	17	9515752	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	814973	9515752	71679458	1482	94594											
USP43	124739	broad.mit.edu	37	chr17	9631968	9631968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggagaacaggaggaaTgagagggcagaggtctctcc	16	6	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:9631968T>C	uc010cod.2	+	15	3033	c.3033T>C	c.(3031-3033)AAT>AAC	p.N1011N	USP43_uc002gma.3_Silent_p.N700N|USP43_uc010vva.1_Silent_p.N1006N|USP43_uc010coe.2_Silent_p.N808N|USP43_uc002gmc.3_Silent_p.N523N	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	1011					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ACAGGAGGAATGAGAGGGCAG	0.642													C	9631968	T	C	9631968	2	2	172	1	0	0	0	0	0	0	0	1	17071	1461	51	3		3	USP43	17	9631968	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	116216	9631968	71563242	1483	94595											
DHRS7C	201140	broad.mit.edu	37	chr17	9684848	9684848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatataggttctctagcCtctcccagttctttccacac	4	15	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:9684848C>T	uc010vvb.1	-	2	218	c.218G>A	c.(217-219)AGG>AAG	p.R73K	DHRS7C_uc010cof.2_Missense_Mutation_p.R73K	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	73						extracellular region	binding|oxidoreductase activity				0						GTTCTCTAGCCTCTCCCAGTT	0.572													T	9684848	C	T	9684848	3	4	172	1	0	0	0	0	1	0	0	0	4497	681	24	4	737	4	DHRS7C	17	9684848	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	52880	9684848	71510362	1484	94596											
MYH3	4621	broad.mit.edu	37	chr17	10532979	10532979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagattctgcgatatccgCacgttcctcggcctcctcca	8	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10532979C>T	uc002gmq.1	-	39	5808	c.5731G>A	c.(5731-5733)GCG>ACG	p.A1911T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1911	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GCGATATCCGCACGTTCCTCG	0.562													T	10532979	C	T	10532979	3	4	172	1	0	0	0	0	1	0	0	0	10036	710	25	2	99	2	MYH3	17	10532979	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	848131	10532979	70662231	1485	94597											
MYH3	4621	broad.mit.edu	37	chr17	10533718	10533718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggttcttcttcatccGctcaaggtgggcgctggtgt	12	11	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10533718G>A	uc002gmq.1	-	36	5421	c.5344C>T	c.(5344-5346)CGG>TGG	p.R1782W		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1782	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCTTCATCCGCTCAAGGTGG	0.577													A	10533718	G	A	10533718	3	1	172	1	0	0	0	0	1	0	0	0	10036	1086	38	1	498	1	MYH3	17	10533718	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	739	10533718	70661492	1486	94598											
MYH3	4621	broad.mit.edu	37	chr17	10535909	10535909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatcttcttcttgagccGgatggcttcattcctgctcc	7	15	4	1	rs141020227		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10535909G>A	uc002gmq.1	-	33	4917	c.4840C>T	c.(4840-4842)CGG>TGG	p.R1614W		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1614	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTCTTGAGCCGGATGGCTTCA	0.582													A	10535909	G	A	10535909	3	1	172	1	0	0	0	0	1	0	0	0	10036	1115	39	1	1014	1	MYH3	17	10535909	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2191	10535909	70659301	1487	94599											
MYH3	4621	broad.mit.edu	37	chr17	10542774	10542774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatctaacccagagagttcCtcagtaaggtttttaaccta	6	10	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:10542774C>A	uc002gmq.1	-	23	3020	c.2943G>T	c.(2941-2943)GAG>GAT	p.E981D		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	981	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CAGAGAGTTCCTCAGTAAGGT	0.413													A	10542774	C	A	10542774	3	1	172	1	0	0	0	0	1	0	0	0	10036	680	24	5	2951	5	MYH3	17	10542774	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	6865	10542774	70652436	1488	94600											
MYOCD	93649	broad.mit.edu	37	chr17	12655775	12655775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaattcggggcttgcctgtGtcaggcaccaaaacggctct	12	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:12655775G>A	uc002gnn.2	+	10	1469	c.1170G>A	c.(1168-1170)GTG>GTA	p.V390V	MYOCD_uc002gno.2_Silent_p.V390V|MYOCD_uc002gnp.1_Silent_p.V294V|MYOCD_uc002gnq.2_Silent_p.V109V	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	390	SAP.				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			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTTGCCTGTGTCAGGCACCA	0.468													A	12655775	G	A	12655775	2	1	172	1	0	0	0	0	0	0	0	1	10087	1364	48	4		4	MYOCD	17	12655775	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2113001	12655775	68539435	1489	94601											
RICH2	9912	broad.mit.edu	37	chr17	12888089	12888089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactttgagcaaatcgcgGcccactcctaagccgcgaca	9	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:12888089G>A	uc002gnr.3	+	20	2508	c.2181G>A	c.(2179-2181)CGG>CGA	p.R727R	RICH2_uc010vvk.1_Silent_p.R727R|RICH2_uc010vvl.1_Silent_p.R721R|RICH2_uc002gns.3_Silent_p.R521R|RICH2_uc010vvm.1_Silent_p.R721R|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	727					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GCAAATCGCGGCCCACTCCTA	0.627													A	12888089	G	A	12888089	2	1	172	1	0	0	0	0	0	0	0	1	13357	1190	42	2		2	RICH2	17	12888089	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	232314	12888089	68307121	1490	94602											
ZNF624	57547	broad.mit.edu	37	chr17	16526349	16526349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttggtgaatgccctctcGcagtcagtacatttatatgg	9	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:16526349G>A	uc010cpi.1	-	6	1934	c.1851C>T	c.(1849-1851)TGC>TGT	p.C617C		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	617	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGCCCTCTCGCAGTCAGTAC	0.383													A	16526349	G	A	16526349	2	1	172	1	0	0	0	0	0	0	0	1	18045	1079	38	1		1	ZNF624	17	16526349	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3638260	16526349	64668861	1491	94603											
RAI1	10743	broad.mit.edu	37	chr17	17701059	17701059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccttctcacccttcgtGcgggtggagaagcgagacgc	13	15	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:17701059G>A	uc002grm.2	+	3	5266	c.4797G>A	c.(4795-4797)GTG>GTA	p.V1599V	RAI1_uc002grn.1_Silent_p.V1599V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1599						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CACCCTTCGTGCGGGTGGAGA	0.562													A	17701059	G	A	17701059	2	1	172	1	0	0	0	0	0	0	0	1	13007	1306	46	2		2	RAI1	17	17701059	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1174710	17701059	63494151	1492	94604											
MYO15A	51168	broad.mit.edu	37	chr17	18053803	18053803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggccagcccggtggaGgcagcagtagtggtactgaa	19	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:18053803G>T	uc010vxh.1	+	35	7611	c.7273G>T	c.(7273-7275)GGC>TGC	p.G2425C		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2425	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCCCGGTGGAGGCAGCAGTAG	0.622													T	18053803	G	T	18053803	3	4	172	1	0	0	0	0	1	0	0	0	10063	1000	35	5	7407	5	MYO15A	17	18053803	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	352744	18053803	63141407	1493	94605											
FLII	2314	broad.mit.edu	37	chr17	18150517	18150517	+	Frame_Shift_Del	DEL	A	A	-													tgggcggctgccgcggcaggAaaagcgcagtgaggtcagcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:18150516_18150516GA>G	uc002gsr.1	-	20	2694	c.2643_2643TC>C	c.(2641-2643)ttcfs	p.F881fs	FLII_uc002gsq.1_Frame_Shift_Del_p.F752fs|FLII_uc010vxn.1_Frame_Shift_Del_p.F850fs|FLII_uc010vxo.1_Frame_Shift_Del_p.F826fs|FLII_uc002gss.1_Frame_Shift_Del_p.F880fs	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	881					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCCGCGGCAGGAAAAGCGCAG	0.726													-	18150517	A	-	18150517	7	5	172	1	0	1	0	1	0	0	0	0	5925	246	9	0	1207	0	FLII	17	18150517	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	96714	18150517	63044693	1494	94606											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799228	20799228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggtagtccaagtaccActggtcctcctggctcccaa	9	17	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:20799228A>G	uc002gyf.2	-	1	226	c.106T>C	c.(106-108)TGG>CGG	p.W36R	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	36											0						TCCAAGTACCACTGGTCCTCC	0.647													G	20799228	A	G	20799228	3	3	172	1	0	0	0	0	1	0	0	0	2779	159	6	3	575	3	CCDC144NL	17	20799228	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2648711	20799228	60395982	1495	94607											
KSR1	8844	broad.mit.edu	37	chr17	25935009	25935009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctggacatcaacaagacGaggcaaatcgctcaggagat	10	10	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:25935009G>A	uc010crg.2	+	16	2164	c.1719G>A	c.(1717-1719)ACG>ACA	p.T573T	KSR1_uc002gzm.2_Silent_p.T352T|KSR1_uc002gzn.2_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	708	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCAACAAGACGAGGCAAATCG	0.612													A	25935009	G	A	25935009	2	1	172	1	0	0	0	0	0	0	0	1	8581	1045	37	1		1	KSR1	17	25935009	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5135781	25935009	55260201	1496	94608											
KIAA0100	9703	broad.mit.edu	37	chr17	26961642	26961642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagctcttgaacctgttctAccacatgctcaggaccatgg	8	13	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:26961642A>G	uc002hbu.2	-	16	3062	c.2963T>C	c.(2962-2964)GTA>GCA	p.V988A		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	988						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AACCTGTTCTACCACATGCTC	0.537													G	26961642	A	G	26961642	3	3	172	1	0	0	0	0	1	0	0	0	8154	391	14	3	3840	3	KIAA0100	17	26961642	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1026633	26961642	54233568	1497	94609											
TLCD1	116238	broad.mit.edu	37	chr17	27051645	27051645	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtccagcatgagcaggatAcccagcaggaaggtgcccag	13	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:27051645A>G	uc002hco.2	-	4	742	c.627T>C	c.(625-627)GGT>GGC	p.G209G	TLCD1_uc010waw.1_Silent_p.G162G	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	209	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					TGAGCAGGATACCCAGCAGGA	0.537													G	27051645	A	G	27051645	2	3	172	1	0	0	0	0	0	0	0	1	15934	378	14	3		3	TLCD1	17	27051645	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	90003	27051645	54143565	1498	94610											
SEZ6	124925	broad.mit.edu	37	chr17	27296914	27296914	+	Frame_Shift_Del	DEL	C	C	-													gccaggggcagtgggtcaggCccccccaggccttccacagt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:27296914delC	uc002hdp.2	-	4	1109	c.915delG	c.(913-915)GGGfs	p.G305fs	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Frame_Shift_Del_p.G305fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.G180fs|SEZ6_uc010crz.1_Frame_Shift_Del_p.G305fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	305	Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	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)			GTGGGTCAGGCCCCCCCAGGC	0.612													-	27296914	C	-	27296914	7	5	172	1	0	1	0	1	0	0	0	0	14142	726	26	0	2138	0	SEZ6	17	27296914	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	245269	27296914	53898296	1499	94611											
SSH2	85464	broad.mit.edu	37	chr17	28030050	28030050	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtagaaaaagggcagcAcctttgacagttagaaagct	12	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:28030050A>G	uc002heo.1	-	3	138	c.138T>C	c.(136-138)GGT>GGC	p.G46G	SSH2_uc010wbh.1_Silent_p.G73G|SSH2_uc002hep.1_Silent_p.G46G|SSH2_uc002heq.2_Silent_p.G53G|SSH2_uc002her.2_Silent_p.G46G|SSH2_uc010csc.1_Silent_p.G46G	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	46					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			skin(2)	2						AAAGGGCAGCACCTTTGACAG	0.418													G	28030050	A	G	28030050	2	3	172	1	0	0	0	0	0	0	0	1	15184	146	6	3		3	SSH2	17	28030050	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	733136	28030050	53165160	1500	94612											
ATAD5	79915	broad.mit.edu	37	chr17	29161389	29161389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgttgacagcaacaaagActgtacgacacctttggaaa	8	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:29161389A>G	uc002hfs.1	+	2	636	c.290A>G	c.(289-291)GAC>GGC	p.D97G	ATAD5_uc002hft.1_5'UTR	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	97					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGCAACAAAGACTGTACGACA	0.328													G	29161389	A	G	29161389	3	3	172	1	0	0	0	0	1	0	0	0	1076	275	10	3	296	3	ATAD5	17	29161389	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1131339	29161389	52033821	1501	94613											
NF1	4763	broad.mit.edu	37	chr17	29553478	29553479	+	Frame_Shift_Ins	INS	-	-	C													gcagcaggatgcagcggaacINSccccccgatttgccgacaag					rs145092683		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:29553477_29553478A>AC	uc002hgg.3	+	17	2409_2410	c.2026_2027A>AC	c.(2026-2028)accfs	p.T676fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	676					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.P678fs*10(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)		ATGCAGCGGAACCCCCCCGATT	0.46			"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)			C	29553479	-	C	29553478	7	5	172	1	0	1	1	0	0	0	0	0	10356	507	18	0	2158	0	NF1	17	29553478	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	392089	29553478	51641732	1502	94614											
TMEM132E	124842	broad.mit.edu	37	chr17	32953298	32953298	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcgccaacagctctctgCagcgctccgagcccttcgtg	11	17	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:32953298C>T	uc002hif.2	+	2	548	c.220C>T	c.(220-222)CAG>TAG	p.Q74*		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	74	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAGCTCTCTGCAGCGCTCCGA	0.701													T	32953298	C	T	32953298	4	4	172	1	0	0	0	0	0	1	0	0	16045	711	25	2	226	2	TMEM132E	17	32953298	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3399820	32953298	48241912	1503	94615											
LIG3	3980	broad.mit.edu	37	chr17	33319045	33319045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaagatgaactcaggtgCaaaacatgtgtaagtagcag	11	6	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:33319045C>T	uc002hik.1	+	7	1385	c.1277C>T	c.(1276-1278)GCA>GTA	p.A426V	LIG3_uc002hij.2_Missense_Mutation_p.A426V|LIG3_uc010cth.1_Missense_Mutation_p.A435V	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	426					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			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	AACTCAGGTGCAAAACATGTG	0.388								Other_BER_factors					T	33319045	C	T	33319045	3	4	172	1	0	0	0	0	1	0	0	0	8782	710	25	2	1299	2	LIG3	17	33319045	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	365747	33319045	47876165	1504	94616											
FNDC8	54752	broad.mit.edu	37	chr17	33454302	33454302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtcccagatggccacaAggggcctgctggaccttgac	13	13	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:33454302A>G	uc002hix.2	+	2	533	c.451A>G	c.(451-453)AGG>GGG	p.R151G		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	151										ovary(2)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GATGGCCACAAGGGGCCTGCT	0.577													G	33454302	A	G	33454302	3	3	172	1	0	0	0	0	1	0	0	0	5974	63	3	3	457	3	FNDC8	17	33454302	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	135257	33454302	47740908	1505	94617											
SLFN11	91607	broad.mit.edu	37	chr17	33679860	33679860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttgcatttctttttgtaAgtacttggctattggatctg	8	6	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:33679860A>G	uc010ctp.2	-	7	2663	c.2221T>C	c.(2221-2223)TTA>CTA	p.L741L	SLFN11_uc010ctq.2_Silent_p.L741L|SLFN11_uc002hjh.3_Silent_p.L741L|SLFN11_uc002hjg.3_Silent_p.L741L|SLFN11_uc010ctr.2_Silent_p.L741L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	741						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTTTTTGTAAGTACTTGGCT	0.463													G	33679860	A	G	33679860	2	3	172	1	0	0	0	0	0	0	0	1	14733	69	3	3		3	SLFN11	17	33679860	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	225558	33679860	47515350	1506	94618											
GGNBP2	79893	broad.mit.edu	37	chr17	34941792	34941792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactgaagatggtaatacTtgtgtagaagtaattgttac	10	4	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:34941792T>C	uc002hnb.2	+	10	1527	c.1278T>C	c.(1276-1278)ACT>ACC	p.T426T	GGNBP2_uc002hna.2_Silent_p.T426T|GGNBP2_uc002hnc.1_Silent_p.T255T	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	426					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGGTAATACTTGTGTAGAAG	0.373													C	34941792	T	C	34941792	2	2	172	1	0	0	0	0	0	0	0	1	6359	1596	56	3		3	GGNBP2	17	34941792	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1261932	34941792	46253418	1507	94619											
ACACA	31	broad.mit.edu	37	chr17	35518796	35518796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggctgatacatagatgcGtggaataccttctgccctag	11	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:35518796G>A	uc002hnm.2	-	42	5328	c.5137C>T	c.(5137-5139)CGC>TGC	p.R1713C	ACACA_uc002hnk.2_Missense_Mutation_p.R1635C|ACACA_uc002hnl.2_Missense_Mutation_p.R1655C|ACACA_uc002hnn.2_Missense_Mutation_p.R1713C|ACACA_uc002hno.2_Missense_Mutation_p.R1750C|ACACA_uc010cuy.2_Missense_Mutation_p.R358C|ACACA_uc010wdc.1_Translation_Start_Site	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1713	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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACATAGATGCGTGGAATACCT	0.463													A	35518796	G	A	35518796	3	1	172	1	0	0	0	0	1	0	0	0	106	1145	40	1	1963	1	ACACA	17	35518796	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	577004	35518796	45676414	1508	94620											
SRCIN1	80725	broad.mit.edu	37	chr17	36707452	36707452	+	Frame_Shift_Del	DEL	G	G	-													ttctggccgtggggggccttGgggggcttgtgatctggagt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:36707452delG	uc002hqd.2	-	15	3126	c.2901delC	c.(2899-2901)CCCfs	p.P967fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.P839fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.P821fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	839	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGGGGGCCTTGGGGGGCTTGT	0.672													-	36707452	G	-	36707452	7	5	172	1	0	1	0	1	0	0	0	0	15135	1335	47	0	670	0	SRCIN1	17	36707452	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	1188656	36707452	44487758	1509	94621											
CACNB1	782	broad.mit.edu	37	chr17	37341120	37341120	+	Splice_Site	DEL	G	G	-													ggggggcacatgctctgtctGgggggggaagcagggagggg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:37341119_37341119TG>T	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	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)	ATGCTCTGTCTGGGGGGGGAA	0.627													-	37341120	G	-	37341120	8	5	172	1	0	1	0	1	0	0	1	0	2552	1363	47	0		0	CACNB1	17	37341120	Splice_Site	DEL	G	TCGA-CG-4442-01A-01D-1158-08	633668	37341120	43854090	1510	94622											
CDK12	51755	broad.mit.edu	37	chr17	37627441	37627441	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttacccagaagtgtaaaAttggaaaaatctgccccaga	8	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:37627441A>G	uc010cvv.2	+	2	1942	c.1356A>G	c.(1354-1356)AAA>AAG	p.K452K	CDK12_uc010wef.1_Silent_p.K451K|CDK12_uc002hrw.3_Silent_p.K452K	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	452					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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GAAGTGTAAAATTGGAAAAAT	0.383										TCGA Ovarian(9;0.13)			G	37627441	A	G	37627441	2	3	172	1	0	0	0	0	0	0	0	1	3128	98	4	3		3	CDK12	17	37627441	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	286321	37627441	43567769	1511	94623											
CDK12	51755	broad.mit.edu	37	chr17	37667883	37667883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagatgtttggagctgtgGgtaaggttctgttaactttt	12	4	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:37667883G>T	uc010cvv.2	+	8	3354	c.2768G>T	c.(2767-2769)GGA>GTA	p.G923V	CDK12_uc010wef.1_Missense_Mutation_p.G922V|CDK12_uc002hrw.3_Missense_Mutation_p.G923V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	923	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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TGGAGCTGTGGGTAAGGTTCT	0.408										TCGA Ovarian(9;0.13)			T	37667883	G	T	37667883	3	4	172	1	0	0	0	0	1	0	0	0	3128	1246	43	5	2798	5	CDK12	17	37667883	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	40442	37667883	43527327	1512	94624											
WIPF2	147179	broad.mit.edu	37	chr17	38421184	38421184	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtctctggctcctcctccTccgccttaccgccagcctcc	6	22	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:38421184T>G	uc002hug.1	+	5	996	c.756T>G	c.(754-756)CCT>CCG	p.P252P	WIPF2_uc002huh.1_Silent_p.P102P|WIPF2_uc010cww.1_Silent_p.P102P|WIPF2_uc002hui.1_Silent_p.P252P|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Silent_p.P252P	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	252	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CTCCTCCTCCTCCGCCTTACC	0.592										HNSCC(43;0.11)			G	38421184	T	G	38421184	2	3	172	1	0	0	0	0	0	0	0	1	17365	1538	54	5		5	WIPF2	17	38421184	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	753301	38421184	42774026	1513	94625											
SMARCE1	6605	broad.mit.edu	37	chr17	38788517	38788517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtgacaactgaccgaAcgtctggcaccacactctca	8	14	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:38788517A>T	uc002hux.2	-	8	768	c.644T>A	c.(643-645)GTT>GAT	p.V215D	SMARCE1_uc010wff.1_Missense_Mutation_p.V180D|SMARCE1_uc010wfg.1_Missense_Mutation_p.V145D|SMARCE1_uc002huy.2_Missense_Mutation_p.V180D|SMARCE1_uc010wfh.1_Missense_Mutation_p.V145D|SMARCE1_uc010wfi.1_Missense_Mutation_p.V197D	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	215					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				AACTGACCGAACGTCTGGCAC	0.453													T	38788517	A	T	38788517	3	4	172	1	0	0	0	0	1	0	0	0	14780	43	2	5	607	5	SMARCE1	17	38788517	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	367333	38788517	42406693	1514	94626											
KRT33A	3883	broad.mit.edu	37	chr17	39502761	39502761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacactccagccgcgcccGcacgtccagcagcacctgat	8	20	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:39502761G>A	uc002hwk.1	-	6	1073	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	346	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				AGCCGCGCCCGCACGTCCAGC	0.602													A	39502761	G	A	39502761	3	1	172	1	0	0	0	0	1	0	0	0	8469	1086	38	1	186	1	KRT33A	17	39502761	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	714244	39502761	41692449	1515	94627											
HAP1	9001	broad.mit.edu	37	chr17	39881315	39881315	+	Frame_Shift_Del	DEL	C	C	-													ctccgcaggcgtgaaatcttCcccccgcatgatatccgctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:39881314_39881314TC>T	uc002hxm.1	-	11	1667	c.1655_1655GA>A	c.(1654-1656)gaafs	p.E552fs	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Frame_Shift_Del_p.E500fs|HAP1_uc002hxo.1_Frame_Shift_Del_p.E483fs|HAP1_uc002hxp.1_Frame_Shift_Del_p.E475fs	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	552	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGTGAAATCTTCCCCCCGCAT	0.617													-	39881315	C	-	39881315	7	5	172	1	0	1	0	1	0	0	0	0	6953	864	30	0	365	0	HAP1	17	39881315	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	378554	39881315	41313895	1516	94628											
STAT3	6774	broad.mit.edu	37	chr17	40467787	40467787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggggaggtagcgcactcCgaggtcaactccatgtcaaa	13	10	2	0	rs147202525		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40467787C>T	uc002hzl.1	-	24	2529	c.2289G>A	c.(2287-2289)TCG>TCA	p.S763S	STAT3_uc002hzk.1_3'UTR|STAT3_uc002hzm.1_Silent_p.S762S|STAT3_uc010wgh.1_Silent_p.S665S|STAT3_uc002hzn.1_Silent_p.S763S|STAT3_uc010cyf.1_3'UTR	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	763					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			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TAGCGCACTCCGAGGTCAACT	0.582									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				T	40467787	C	T	40467787	2	4	172	1	0	0	0	0	0	0	0	1	15265	639	23	1		1	STAT3	17	40467787	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	586472	40467787	40727423	1517	94629											
PTRF	284119	broad.mit.edu	37	chr17	40575031	40575031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcctccgctgcctgagCcccagcggaggaaggctccg	14	17	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40575031C>T	uc002hzo.2	-	1	244	c.85G>A	c.(85-87)GCT>ACT	p.A29T	PTRF_uc010wgi.1_Missense_Mutation_p.A29T	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	29					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCTGCCTGAGCCCCAGCGGAG	0.672													T	40575031	C	T	40575031	3	4	172	1	0	0	0	0	1	0	0	0	12815	739	26	2	1095	2	PTRF	17	40575031	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	107244	40575031	40620179	1518	94630											
PLEKHH3	79990	broad.mit.edu	37	chr17	40822025	40822025	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccatggcctcagctcGgcccatgccccgtagccgct	13	18	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40822025G>A	uc002iau.2	-	11	2391	c.1924C>T	c.(1924-1926)CGA>TGA	p.R642*	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Nonsense_Mutation_p.R3*|PLEKHH3_uc002iaw.2_Nonsense_Mutation_p.R639*	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	642	FERM.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCCTCAGCTCGGCCCATGCCC	0.692													A	40822025	G	A	40822025	4	1	172	1	0	0	0	0	0	1	0	0	12078	1124	39	1	469	1	PLEKHH3	17	40822025	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	246994	40822025	40373185	1519	94631											
WNK4	65266	broad.mit.edu	37	chr17	40940391	40940391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccagggaggaatctccGgcgcagaccccgatcccggc	12	18	1	1	rs146190504		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:40940391G>A	uc002ibj.2	+	10	2027	c.2006G>A	c.(2005-2007)CGG>CAG	p.R669Q	WNK4_uc010wgx.1_Missense_Mutation_p.R333Q|WNK4_uc002ibk.1_Missense_Mutation_p.R441Q|WNK4_uc010wgy.1_Missense_Mutation_p.R13Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	669					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGAATCTCCGGCGCAGACCC	0.572													A	40940391	G	A	40940391	3	1	172	1	0	0	0	0	1	0	0	0	17377	1116	39	1	2044	1	WNK4	17	40940391	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	118366	40940391	40254819	1520	94632											
BRCA1	672	broad.mit.edu	37	chr17	41234588	41234588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttatgttgcatggtatccCtctgcttcaaaaacgataaa	8	8	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:41234588C>A	uc002icq.2	-	12	4422	c.4190G>T	c.(4189-4191)AGG>ATG	p.R1397M	BRCA1_uc010whp.1_Missense_Mutation_p.R247M|BRCA1_uc010whl.1_Missense_Mutation_p.R294M|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1326M|BRCA1_uc002icu.2_Missense_Mutation_p.R294M|BRCA1_uc010cyx.2_Missense_Mutation_p.R1350M|BRCA1_uc002ict.2_Missense_Mutation_p.R1397M|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.R126M|BRCA1_uc002idc.1_Missense_Mutation_p.R293M|BRCA1_uc010whr.1_Missense_Mutation_p.R247M	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1397	Interaction with PALB2.				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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGGTATCCCTCTGCTTCAA	0.383			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41234588	C	A	41234588	3	1	172	1	0	0	0	0	1	0	0	0	1498	681	24	5	1519	5	BRCA1	17	41234588	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	294197	41234588	39960622	1521	94633											
BRCA1	672	broad.mit.edu	37	chr17	41244577	41244577	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttcttacatttagtttTaacaaatgacttgatgggaa	6	4	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:41244577T>G	uc002icq.2	-	10	3203	c.2971A>C	c.(2971-2973)AAA>CAA	p.K991Q	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.K920Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.K944Q|BRCA1_uc002ict.2_Missense_Mutation_p.K991Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.K991Q|BRCA1_uc002ide.1_Missense_Mutation_p.K822Q|BRCA1_uc010cyy.1_Missense_Mutation_p.K991Q|BRCA1_uc010whs.1_Missense_Mutation_p.K991Q|BRCA1_uc010cyz.2_Missense_Mutation_p.K944Q|BRCA1_uc010cza.2_Missense_Mutation_p.K965Q|BRCA1_uc010wht.1_Missense_Mutation_p.K695Q	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	991					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATTTAGTTTTAACAAATGAC	0.363			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			G	41244577	T	G	41244577	3	3	172	1	0	0	0	0	1	0	0	0	1498	1763	61	5	2746	5	BRCA1	17	41244577	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	9989	41244577	39950633	1522	94634											
C17orf46	124783	broad.mit.edu	37	chr17	43334552	43334552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccactgaccctttgccGcagcatggaaatccatgggc	9	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:43334552G>A	uc002iis.1	-	2	132	c.36C>T	c.(34-36)TGC>TGT	p.C12C	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_5'UTR	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	12										large_intestine(1)|ovary(1)	2						ACCCTTTGCCGCAGCATGGAA	0.632													A	43334552	G	A	43334552	2	1	172	1	0	0	0	0	0	0	0	1	1857	1079	38	1		1	C17orf46	17	43334552	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2089975	43334552	37860658	1523	94635											
PLEKHM1	9842	broad.mit.edu	37	chr17	43545824	43545824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggggctctgcaggtgcCtcacagtgcaggtatgtgct	16	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:43545824C>A	uc002ija.2	-	5	1229	c.1059G>T	c.(1057-1059)GAG>GAT	p.E353D	PLEKHM1_uc010wjm.1_Missense_Mutation_p.E325D|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E302D	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	353					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					CTGCAGGTGCCTCACAGTGCA	0.632													A	43545824	C	A	43545824	3	1	172	1	0	0	0	0	1	0	0	0	12080	680	24	5	2143	5	PLEKHM1	17	43545824	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	211272	43545824	37649386	1524	94636											
WNT9B	7484	broad.mit.edu	37	chr17	44952494	44952494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacagctttcctgtacgCggtgtcctctgccgccctca	10	15	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:44952494C>T	uc002ikw.1	+	3	399	c.362C>T	c.(361-363)GCG>GTG	p.A121V	WNT9B_uc002ikx.1_Missense_Mutation_p.A121V	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	121					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TTCCTGTACGCGGTGTCCTCT	0.542													T	44952494	C	T	44952494	3	4	172	1	0	0	0	0	1	0	0	0	17396	768	27	1	372	1	WNT9B	17	44952494	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1406670	44952494	36242716	1525	94637											
WNT9B	7484	broad.mit.edu	37	chr17	44952641	44952641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaacctcaagtacagcaCcaagtttctgagcaacttcc	6	13	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:44952641C>T	uc002ikw.1	+	3	546	c.509C>T	c.(508-510)ACC>ATC	p.T170I	WNT9B_uc002ikx.1_Missense_Mutation_p.T170I	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	170					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AAGTACAGCACCAAGTTTCTG	0.627													T	44952641	C	T	44952641	3	4	172	1	0	0	0	0	1	0	0	0	17396	507	18	4	519	4	WNT9B	17	44952641	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	147	44952641	36242569	1526	94638											
LRRC37A2	474170	broad.mit.edu	37	chr17	45127300	45127301	+	Frame_Shift_Ins	INS	-	-	A													aaccaatttcacattccagaINSaaaaaataccgctttcacaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:45127299_45127300G>GA	uc010wkj.1	+	1	851_852	c.497_498G>GA	c.(496-498)agafs	p.R166fs	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1302						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCACATTCCAGAAAAAAATACC	0.391													A	45127301	-	A	45127300	7	5	172	1	0	1	1	0	0	0	0	0	8992	261	9	0		0	LRRC37A2	17	45127300	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	174659	45127300	36067910	1527	94639											
SP6	80320	broad.mit.edu	37	chr17	45924731	45924731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggggggctccactgcGccgccggccttgccctctcc	12	22	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:45924731G>A	uc002img.1	-	2	1397	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G	SP6_uc002imh.1_Silent_p.G355G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GCTCCACTGCGCCGCCGGCCT	0.711													A	45924731	G	A	45924731	2	1	172	1	0	0	0	0	0	0	0	1	14968	1074	38	1		1	SP6	17	45924731	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	797431	45924731	35270479	1528	94640											
ITGA3	3675	broad.mit.edu	37	chr17	48148781	48148781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgttcttgctgagccaGgaggcaggcggagacctgcg	18	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:48148781G>T	uc010dbl.2	+	6	1322	c.858G>T	c.(856-858)CAG>CAT	p.Q286H	ITGA3_uc010dbm.2_Missense_Mutation_p.Q286H	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	286	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TGCTGAGCCAGGAGGCAGGCG	0.617													T	48148781	G	T	48148781	3	4	172	1	0	0	0	0	1	0	0	0	7877	991	35	5	880	5	ITGA3	17	48148781	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2224050	48148781	33046429	1529	94641											
TMEM92	162461	broad.mit.edu	37	chr17	48356598	48356598	+	Frame_Shift_Del	DEL	C	C	-													gcccaactcccacagagccaCcccctccctacagcttcagg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:48356597_48356597AC>A	uc002iqn.2	+	5	518	c.408_408AC>A	c.(406-408)ccafs	p.P136fs	TMEM92_uc021tzz.1_Frame_Shift_Del_p.P136fs	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	136	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCACAGAGCCACCCCCTCCCT	0.597													-	48356598	C	-	48356598	7	5	172	1	0	1	0	1	0	0	0	0	16218	507	18	0	427	0	TMEM92	17	48356598	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	207817	48356598	32838612	1530	94642											
HLF	3131	broad.mit.edu	37	chr17	53345288	53345288	+	Frame_Shift_Del	DEL	C	C	-													ttttgtcagaaaatggcattCcccccagcccatctcagcat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:53345287_53345287TC>T	uc002iug.1	+	1	816	c.291_291TC>T	c.(289-291)attfs	p.I97fs	HLF_uc010dce.1_Frame_Shift_Del_p.I12fs|HLF_uc002iuh.2_Frame_Shift_Del_p.I12fs|HLF_uc010wni.1_Frame_Shift_Del_p.F46fs	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	97					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAAATGGCATTCCCCCCAGCC	0.582			T	TCF3	ALL								-	53345288	C	-	53345288	7	5	172	1	0	1	0	1	0	0	0	0	7214	855	30	0	298	0	HLF	17	53345288	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	4988690	53345288	27849922	1531	94643											
BZRAP1	9256	broad.mit.edu	37	chr17	56382987	56382987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttcaggtcagcagaggGgaccagcttaggggggcctg	17	9	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:56382987G>A	uc002ivx.3	-	28	6146	c.5275C>T	c.(5275-5277)CCC>TCC	p.P1759S	BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'UTR|BZRAP1_uc010dcs.2_Missense_Mutation_p.P1699S|BZRAP1_uc010wnt.1_Missense_Mutation_p.P1750S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1759						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGCAGAGGGGACCAGCTTA	0.612													A	56382987	G	A	56382987	3	1	172	1	0	0	0	0	1	0	0	0	1577	1232	43	4	314	4	BZRAP1	17	56382987	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	3037699	56382987	24812223	1532	94644											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	172	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	52174	56435161	24760049	1533	94645											
CLTC	1213	broad.mit.edu	37	chr17	57752157	57752157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattcttgttgtaagaggTcaattctctactgatgagct	9	6	3	4	rs139004755		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:57752157T>C	uc002ixq.1	+	16	2957	c.2514T>C	c.(2512-2514)GGT>GGC	p.G838G	CLTC_uc002ixp.2_Silent_p.G838G|CLTC_uc002ixr.1_Silent_p.G842G	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	838	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)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGTAAGAGGTCAATTCTCTA	0.368			T	ALK|TFE3	ALCL|renal 								C	57752157	T	C	57752157	2	2	172	1	0	0	0	0	0	0	0	1	3566	1654	58	3		3	CLTC	17	57752157	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1316996	57752157	23443053	1534	94646											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856785	62856785	+	Frame_Shift_Del	DEL	T	T	-													ctctattcagtctctgccggTttttgcctacagtttgaatc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:62856784_62856784GT>G	uc002jey.2	-	10	4096	c.3480_3480AC>C	c.(3478-3480)aacfs	p.N1160fs	LRRC37A3_uc010wqg.1_Frame_Shift_Del_p.N278fs|LRRC37A3_uc002jex.1_Frame_Shift_Del_p.N137fs|LRRC37A3_uc010wqf.1_Frame_Shift_Del_p.N198fs|LRRC37A3_uc010dek.1_Frame_Shift_Del_p.N166fs|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1160						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						GTCTCTGCCGGTTTTTGCCTA	0.493													-	62856785	T	-	62856785	7	5	172	1	0	1	0	1	0	0	0	0	8993	1725	60	0	1441	0	LRRC37A3	17	62856785	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	5104628	62856785	18338425	1535	94647											
CACNG5	27091	broad.mit.edu	37	chr17	64881122	64881122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccggggtgatgtctgtgtAcctgtttatgaagcggtaca	14	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:64881122A>G	uc010wqi.1	+	6	830	c.593A>G	c.(592-594)TAC>TGC	p.Y198C	CACNG5_uc010wqj.1_Missense_Mutation_p.Y198C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	198				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGTCTGTGTACCTGTTTATG	0.612													G	64881122	A	G	64881122	3	3	172	1	0	0	0	0	1	0	0	0	2560	391	14	3	928	3	CACNG5	17	64881122	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	2024337	64881122	16314088	1536	94648											
HELZ	9931	broad.mit.edu	37	chr17	65103454	65103454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctggccccattaggtgaTtctgttgcaagttagcaaaa	9	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:65103454T>C	uc010wqk.1	-	31	5262	c.5075A>G	c.(5074-5076)AAT>AGT	p.N1692S	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.N1691S	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CATTAGGTGATTCTGTTGCAA	0.483													C	65103454	T	C	65103454	3	2	172	1	0	0	0	0	1	0	0	0	7049	1493	52	3	768	3	HELZ	17	65103454	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	222332	65103454	16091756	1537	94649											
BPTF	2186	broad.mit.edu	37	chr17	65905705	65905705	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttctttttagccaaaaaTaatatggatgaaaatatgga	8	3	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:65905705T>C	uc002jgf.2	+	10	2881	c.2820T>C	c.(2818-2820)AAT>AAC	p.N940N	BPTF_uc002jge.2_Silent_p.N1066N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1066					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			ovary(2)|skin(2)	4	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)			TAGCCAAAAATAATATGGATG	0.279													C	65905705	T	C	65905705	2	2	172	1	0	0	0	0	0	0	0	1	1495	1403	49	3		3	BPTF	17	65905705	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	802251	65905705	15289505	1538	94650											
ABCA8	10351	broad.mit.edu	37	chr17	66898920	66898920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccaggagcaaggaaatAcaaatgaggagaaagttccc	11	7	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:66898920A>G	uc002jhp.2	-	19	2757	c.2578T>C	c.(2578-2580)TAT>CAT	p.Y860H	ABCA8_uc002jhq.2_Missense_Mutation_p.Y900H|ABCA8_uc010wqq.1_Missense_Mutation_p.Y900H|ABCA8_uc010wqr.1_Missense_Mutation_p.Y839H|ABCA8_uc002jhr.2_Missense_Mutation_p.Y900H	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	860						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GCAAGGAAATACAAATGAGGA	0.378													G	66898920	A	G	66898920	3	3	172	1	0	0	0	0	1	0	0	0	38	391	14	3	2247	3	ABCA8	17	66898920	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	993215	66898920	14296290	1539	94651											
ABCA10	10349	broad.mit.edu	37	chr17	67186554	67186554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatacttcattcagagaTgtcactgaaacagcataatt	6	7	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:67186554T>C	uc010dfa.1	-	19	2955	c.2076A>G	c.(2074-2076)ACA>ACG	p.T692T	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Silent_p.T293T	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	692					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CATTCAGAGATGTCACTGAAA	0.333													C	67186554	T	C	67186554	2	2	172	1	0	0	0	0	0	0	0	1	29	1451	51	3		3	ABCA10	17	67186554	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	287634	67186554	14008656	1540	94652											
ABCA10	10349	broad.mit.edu	37	chr17	67189694	67189694	+	Frame_Shift_Del	DEL	T	T	-													ctcttctgcccaccacttaaTtttttagcaataatgtcttg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:67189694delT	uc010dfa.1	-	15	2460	c.1581delA	c.(1579-1581)AAAfs	p.K527fs	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.K128fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	527	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					CACCACTTAATTTTTTAGCAA	0.289													-	67189694	T	-	67189694	7	5	172	1	0	1	0	1	0	0	0	0	29	1490	52	0	3154	0	ABCA10	17	67189694	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	3140	67189694	14005516	1541	94653											
COG1	9382	broad.mit.edu	37	chr17	71197647	71197647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgcctttgacagatacGcagatgcggggaccgtgcag	14	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:71197647G>A	uc002jjg.2	+	7	1717	c.1681G>A	c.(1681-1683)GCA>ACA	p.A561T	COG1_uc002jjh.2_Missense_Mutation_p.A561T|COG1_uc002jjf.1_Missense_Mutation_p.A561T	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	561					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			TGACAGATACGCAGATGCGGG	0.552													A	71197647	G	A	71197647	3	1	172	1	0	0	0	0	1	0	0	0	3657	1087	38	1	1707	1	COG1	17	71197647	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	4007953	71197647	9997563	1542	94654											
SDK2	54549	broad.mit.edu	37	chr17	71389790	71389790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggacttcatagagcacGtatttgcccaagccggtgag	11	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:71389790G>A	uc010dfm.2	-	27	3807	c.3807C>T	c.(3805-3807)TAC>TAT	p.Y1269Y	SDK2_uc002jjt.3_Silent_p.Y428Y|SDK2_uc010dfn.2_Silent_p.Y948Y	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1269	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						CATAGAGCACGTATTTGCCCA	0.617													A	71389790	G	A	71389790	2	1	172	1	0	0	0	0	0	0	0	1	13969	1140	40	1		1	SDK2	17	71389790	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	192143	71389790	9805420	1543	94655											
TMEM104	54868	broad.mit.edu	37	chr17	72832458	72832458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccccatcattgccgtgAccctgcgcaacaactggaag	8	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:72832458A>G	uc002jls.3	+	10	1285	c.1123A>G	c.(1123-1125)ACC>GCC	p.T375A	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.T375A	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	375	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					CATTGCCGTGACCCTGCGCAA	0.647													G	72832458	A	G	72832458	3	3	172	1	0	0	0	0	1	0	0	0	16015	275	10	3	1157	3	TMEM104	17	72832458	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1442668	72832458	8362752	1544	94656											
RECQL5	9400	broad.mit.edu	37	chr17	73625328	73625328	+	Frame_Shift_Del	DEL	C	C	-													gccttcttctcaggggagggCcccccatagtgagcgctgcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:73625328delC	uc010dgl.2	-	16	2331	c.2175delG	c.(2173-2175)GGGfs	p.G725fs	RECQL5_uc010dgk.2_Frame_Shift_Del_p.G698fs|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	725					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			CAGGGGAGGGCCCCCCATAGT	0.672								Other_identified_genes_with_known_or_suspected_DNA_repair_function					-	73625328	C	-	73625328	7	5	172	1	0	1	0	1	0	0	0	0	13203	726	26	0	820	0	RECQL5	17	73625328	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	792870	73625328	7569882	1545	94657											
GALR2	8811	broad.mit.edu	37	chr17	74072970	74072970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctcggcctgacctacGcgcgcaccttgcgctacctc	10	17	1	1	rs142971884		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:74072970G>A	uc002jqm.1	+	2	703	c.622G>A	c.(622-624)GCG>ACG	p.A208T	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	208	Helical; Name=5; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCTGACCTACGCGCGCACCTT	0.697													A	74072970	G	A	74072970	3	1	172	1	0	0	0	0	1	0	0	0	6228	1087	38	1	628	1	GALR2	17	74072970	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	447642	74072970	7122240	1546	94658											
SEC14L1	6397	broad.mit.edu	37	chr17	75196727	75196727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtccttcaggattactaCgcgggaggctggcatcatca	12	11	3	0	rs143920033		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:75196727C>T	uc002jto.2	+	9	1248	c.981C>T	c.(979-981)TAC>TAT	p.Y327Y	SEC14L1_uc010dhc.2_Silent_p.Y327Y|SEC14L1_uc010wth.1_Silent_p.Y327Y|SEC14L1_uc002jtm.2_Silent_p.Y327Y|SEC14L1_uc010wti.1_Silent_p.Y293Y	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	327	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						AGGATTACTACGCGGGAGGCT	0.493													T	75196727	C	T	75196727	2	4	172	1	0	0	0	0	0	0	0	1	13981	547	19	1		1	SEC14L1	17	75196727	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1123757	75196727	5998483	1547	94659											
TNRC6C	57690	broad.mit.edu	37	chr17	76073380	76073380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggtgggattgcctccGggctgggcatgcaaaacttg	15	11	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:76073380G>A	uc002jud.2	+	10	3775	c.3175G>A	c.(3175-3177)GGG>AGG	p.G1059R	TNRC6C_uc002juf.2_Missense_Mutation_p.G1056R|TNRC6C_uc002jue.2_Missense_Mutation_p.G1056R	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1059					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GATTGCCTCCGGGCTGGGCAT	0.527													A	76073380	G	A	76073380	3	1	172	1	0	0	0	0	1	0	0	0	16339	1116	39	1	3201	1	TNRC6C	17	76073380	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	876653	76073380	5121830	1548	94660											
RNF213	57674	broad.mit.edu	37	chr17	78341838	78341838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcgaccacgtgcactGcctgcgctgcctcagggcct	12	18	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:78341838G>A	uc002jyh.1	+	19	6492	c.6269G>A	c.(6268-6270)TGC>TAC	p.C2090Y	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.C472Y	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CACGTGCACTGCCTGCGCTGC	0.567													A	78341838	G	A	78341838	3	1	172	1	0	0	0	0	1	0	0	0	13477	1319	46	2	12539	2	RNF213	17	78341838	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2268458	78341838	2853372	1549	94661											
AZI1	22994	broad.mit.edu	37	chr17	79171622	79171622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcccatcctcaggaggttCggggaacgcactgagttttc	12	12	1	1	rs144147050		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:79171622C>T	uc002jzp.1	-	13	1746	c.1546G>A	c.(1546-1548)GAA>AAA	p.E516K	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.E513K|AZI1_uc002jzo.1_Missense_Mutation_p.E513K|AZI1_uc010wum.1_Missense_Mutation_p.E516K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	516					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCAGGAGGTTCGGGGAACGCA	0.567													T	79171622	C	T	79171622	3	4	172	1	0	0	0	0	1	0	0	0	1240	893	31	1	1761	1	AZI1	17	79171622	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	829784	79171622	2023588	1550	94662											
LRRC45	201255	broad.mit.edu	37	chr17	79983283	79983283	+	Frame_Shift_Del	DEL	G	G	-													tggaataacgttggcctcctGgggggccgggccctcatgaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:79983282_79983282TG>T	uc002kde.3	+	4	800	c.560_560TG>T	c.(559-561)ctgfs	p.L187fs	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	187						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)			GTTGGCCTCCTGGGGGGCCGG	0.627													-	79983283	G	-	79983283	7	5	172	1	0	1	0	1	0	0	0	0	9002	1335	47	0	579	0	LRRC45	17	79983283	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	811661	79983283	1211927	1551	94663											
RAB40B	10966	broad.mit.edu	37	chr17	80617530	80617530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcatagaccaggatcaCaccctgggggagaggtcaca	12	10	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:80617530C>T	uc002kft.2	-	4	394	c.268G>A	c.(268-270)GTG>ATG	p.V90M	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	90					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACCAGGATCACACCCTGGGGG	0.502													T	80617530	C	T	80617530	3	4	172	1	0	0	0	0	1	0	0	0	12941	478	17	4	580	4	RAB40B	17	80617530	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	634247	80617530	577680	1552	94664											
FN3KRP	79672	broad.mit.edu	37	chr17	80684826	80684826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgatttttgacccagctTctttctacggccactcggaa	9	12	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:80684826T>C	uc002kfu.2	+	6	759	c.709T>C	c.(709-711)TCT>CCT	p.S237P	FN3KRP_uc010wvr.1_Missense_Mutation_p.S187P	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	237							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TGACCCAGCTTCTTTCTACGG	0.557													C	80684826	T	C	80684826	3	2	172	1	0	0	0	0	1	0	0	0	5964	1783	62	3	731	3	FN3KRP	17	80684826	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	67296	80684826	510384	1553	94665											
TBCD	6904	broad.mit.edu	37	chr17	80861316	80861316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgagggcgctgcacaAcctggcccagcaggcacccg	15	16	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr17:80861316A>G	uc002kfz.2	+	19	1896	c.1766A>G	c.(1765-1767)AAC>AGC	p.N589S	TBCD_uc002kfx.1_Missense_Mutation_p.N572S|TBCD_uc002kfy.1_Missense_Mutation_p.N589S|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	589	HEAT 2.				'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				0	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)			GCGCTGCACAACCTGGCCCAG	0.572													G	80861316	A	G	80861316	3	3	172	1	0	0	0	0	1	0	0	0	15630	43	2	3	1840	3	TBCD	17	80861316	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	176490	80861316	333894	1554	94666											
MYL12A	10627	broad.mit.edu	37	chr18	3255845	3255845	+	Frame_Shift_Del	DEL	A	A	-													acagagaagcacctattgatAaaaaggggaatttcaattac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:3255845delA	uc002klr.2	+	4	840	c.445delA	c.(445-447)AAAfs	p.K149fs	MYL12A_uc002kls.2_Frame_Shift_Del_p.K155fs	NM_006471	NP_006462	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory,	149	EF-hand 3.					myosin complex	calcium ion binding|protein binding				0						ACCTATTGATAAAAAGGGGAA	0.433													-	3255845	A	-	3255845	7	5	172	1	0	1	0	1	0	0	0	0	10045	363	13	0	455	0	MYL12A	18	3255845	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08		3255845	74821403	1555	94667											
KIAA0802	23255	broad.mit.edu	37	chr18	8824732	8824732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgtctgagttccagcGtctaatggacatctccccct	7	15	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:8824732G>A	uc002knr.2	+	15	3366	c.3224G>A	c.(3223-3225)CGT>CAT	p.R1075H	KIAA0802_uc002knq.2_Missense_Mutation_p.R1034H|KIAA0802_uc002kns.2_Missense_Mutation_p.R415H	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1385											0						GAGTTCCAGCGTCTAATGGAC	0.592													A	8824732	G	A	8824732	3	1	172	1	0	0	0	0	1	0	0	0	8194	1145	40	1	3274	1	KIAA0802	18	8824732	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5568887	8824732	69252516	1556	94668											
PPP4R1	9989	broad.mit.edu	37	chr18	9559564	9559564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgagaagggtcagtcatAgataaatactgatctaacaa	9	7	3	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:9559564A>G	uc002koe.1	-	14	1999	c.1881T>C	c.(1879-1881)TCT>TCC	p.S627S	PPP4R1_uc002kof.2_Silent_p.S44S|PPP4R1_uc010wzo.1_Silent_p.S473S|PPP4R1_uc002kod.1_Silent_p.S610S|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	627					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						GGTCAGTCATAGATAAATACT	0.458													G	9559564	A	G	9559564	2	3	172	1	0	0	0	0	0	0	0	1	12403	407	15	3		3	PPP4R1	18	9559564	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	734832	9559564	68517684	1557	94669											
ROCK1	6093	broad.mit.edu	37	chr18	18624112	18624112	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgctaacttcaaatgtccaGatttatccagcagcatgtta	6	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:18624112G>T	uc002kte.2	-	6	1567	c.626C>A	c.(625-627)TCT>TAT	p.S209Y		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	209	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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					CAAATGTCCAGATTTATCCAG	0.313													T	18624112	G	T	18624112	3	4	172	1	0	0	0	0	1	0	0	0	13517	942	33	5	3550	5	ROCK1	18	18624112	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	9064548	18624112	59453136	1558	94670											
OSBPL1A	114876	broad.mit.edu	37	chr18	21912999	21912999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcacaatgcaagggtgTatttcctaactgatccgaac	9	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:21912999T>C	uc002kve.2	-	7	706	c.532A>G	c.(532-534)ACA>GCA	p.T178A		NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	178	ANK 3.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	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)					TGCAAGGGTGTATTTCCTAAC	0.393													C	21912999	T	C	21912999	3	2	172	1	0	0	0	0	1	0	0	0	11277	1638	57	3	2408	3	OSBPL1A	18	21912999	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3288887	21912999	56164249	1559	94671											
ZNF521	25925	broad.mit.edu	37	chr18	22806757	22806757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgactctttgggattggCggggcagcttccaccatggt	13	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:22806757C>T	uc002kvk.2	-	4	1372	c.1125G>A	c.(1123-1125)CCG>CCA	p.P375P	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.P375P|ZNF521_uc002kvl.2_Silent_p.P155P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	375					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGGGATTGGCGGGGCAGCTT	0.547			T	PAX5	ALL								T	22806757	C	T	22806757	2	4	172	1	0	0	0	0	0	0	0	1	17962	755	27	1		1	ZNF521	18	22806757	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	893758	22806757	55270491	1560	94672											
PSMA8	143471	broad.mit.edu	37	chr18	23758861	23758861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaattacacagaagatgCcatagcaagtgacagtgaag	10	6	0	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:23758861C>T	uc002kvq.2	+	5	677	c.563C>T	c.(562-564)GCC>GTC	p.A188V	PSMA8_uc002kvo.2_Missense_Mutation_p.A144V|PSMA8_uc002kvp.2_Missense_Mutation_p.A182V|PSMA8_uc002kvr.2_Missense_Mutation_p.A156V	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	188					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			skin(1)	1	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)			ACAGAAGATGCCATAGCAAGT	0.308													T	23758861	C	T	23758861	3	4	172	1	0	0	0	0	1	0	0	0	12673	739	26	2	581	2	PSMA8	18	23758861	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	952104	23758861	54318387	1561	94673											
TTR	7276	broad.mit.edu	37	chr18	29171922	29171922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactggtatttgtgtctgaGgctggccctacggtgagtgt	16	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:29171922G>T	uc002kwx.3	+	1	193	c.57G>T	c.(55-57)GAG>GAT	p.E19D		NM_000371	NP_000362	P02766	TTHY_HUMAN	transthyretin precursor	19					transport	cytoplasm	hormone activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGTGTCTGAGGCTGGCCCTA	0.507													T	29171922	G	T	29171922	3	4	172	1	0	0	0	0	1	0	0	0	16735	991	35	5	59	5	TTR	18	29171922	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5413061	29171922	48905326	1562	94674											
B4GALT6	9331	broad.mit.edu	37	chr18	29264301	29264301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccacatagatgaagTacagacaggacgaagagagg	15	7	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:29264301T>C	uc002kwz.3	-	1	386	c.89A>G	c.(88-90)TAC>TGC	p.Y30C	B4GALT6_uc010dma.2_Missense_Mutation_p.Y30C|B4GALT6_uc010dmb.2_Missense_Mutation_p.Y30C	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	30	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			ATAGATGAAGTACAGACAGGA	0.557													C	29264301	T	C	29264301	3	2	172	1	0	0	0	0	1	0	0	0	1275	1638	57	3	1095	3	B4GALT6	18	29264301	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	92379	29264301	48812947	1563	94675											
KLHL14	57565	broad.mit.edu	37	chr18	30350456	30350456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccgtcagggtcacgtcGcaaaacagctgcttcctcca	11	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:30350456G>A	uc002kxm.1	-	2	487	c.99C>T	c.(97-99)TGC>TGT	p.C33C		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	33	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GGGTCACGTCGCAAAACAGCT	0.642													A	30350456	G	A	30350456	2	1	172	1	0	0	0	0	0	0	0	1	8370	1079	38	1		1	KLHL14	18	30350456	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1086155	30350456	47726792	1564	94676											
MOCOS	55034	broad.mit.edu	37	chr18	33795823	33795823	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccacctgtgtgtgatgtCgccagaacccagccgactcc	10	17	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:33795823C>T	uc002kzq.3	+	8	1703	c.1680C>T	c.(1678-1680)GTC>GTT	p.V560V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	560					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TGTGTGATGTCGCCAGAACCC	0.552													T	33795823	C	T	33795823	2	4	172	1	0	0	0	0	0	0	0	1	9689	871	31	1		1	MOCOS	18	33795823	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	3445367	33795823	44281425	1565	94677											
MOCOS	55034	broad.mit.edu	37	chr18	33831236	33831236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaatgcaaagaagaaAcatggaaaaggtattacatt	9	4	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:33831236A>G	uc002kzq.3	+	11	2177	c.2154A>G	c.(2152-2154)AAA>AAG	p.K718K		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	718	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CAAAGAAGAAACATGGAAAAG	0.398													G	33831236	A	G	33831236	2	3	172	1	0	0	0	0	0	0	0	1	9689	40	2	3		3	MOCOS	18	33831236	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	35413	33831236	44246012	1566	94678											
CELF4	56853	broad.mit.edu	37	chr18	34853109	34853109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgactgatgccatcagggcCgcttgctgctgcatcagctg	13	13	2	1	rs145932686		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:34853109C>T	uc002lae.2	-	7	1215	c.819G>A	c.(817-819)GCG>GCA	p.A273A	CELF4_uc010dnd.1_Silent_p.A271A|CELF4_uc002lag.2_Silent_p.A263A|CELF4_uc002laf.2_Silent_p.A268A|CELF4_uc002lai.2_Silent_p.A258A|CELF4_uc002lah.1_5'UTR|CELF4_uc002laj.1_Missense_Mutation_p.G109S	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	273	Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich.				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			ovary(2)	2						CCATCAGGGCCGCTTGCTGCT	0.637													T	34853109	C	T	34853109	2	4	172	1	0	0	0	0	0	0	0	1	3218	639	23	1		1	CELF4	18	34853109	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1021873	34853109	43224139	1567	94679											
CELF4	56853	broad.mit.edu	37	chr18	35145576	35145576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttgtcagcctgtccgTttgctaacgtggccatcttt	10	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:35145576T>C	uc002lae.2	-	1	425	c.29A>G	c.(28-30)AAC>AGC	p.N10S	CELF4_uc010dnd.1_Missense_Mutation_p.N10S|CELF4_uc002lag.2_Missense_Mutation_p.N10S|CELF4_uc002laf.2_Missense_Mutation_p.N6S|CELF4_uc002lai.2_Missense_Mutation_p.N6S	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	10	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						AGCCTGTCCGTTTGCTAACGT	0.557													C	35145576	T	C	35145576	3	2	172	1	0	0	0	0	1	0	0	0	3218	1725	60	3	1479	3	CELF4	18	35145576	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	292467	35145576	42931672	1568	94680											
TCEB3B	51224	broad.mit.edu	37	chr18	44560392	44560392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgagtgcccttggattcgTttgctttcctttgtttatct	8	10	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:44560392T>C	uc002lcr.1	-	1	1597	c.1244A>G	c.(1243-1245)AAC>AGC	p.N415S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	415					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CTTGGATTCGTTTGCTTTCCT	0.502													C	44560392	T	C	44560392	3	2	172	1	0	0	0	0	1	0	0	0	15679	1725	60	3	1021	3	TCEB3B	18	44560392	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	9414816	44560392	33516856	1569	94681											
KIAA0427	9811	broad.mit.edu	37	chr18	46385824	46385824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggagtccatgctgacccGgtcgctgctcctagaggtca	12	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:46385824G>A	uc002ldc.2	+	12	1976	c.1691G>A	c.(1690-1692)CGG>CAG	p.R564Q	KIAA0427_uc002ldd.2_Missense_Mutation_p.R566Q|KIAA0427_uc002lde.3_Missense_Mutation_p.R193Q	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	564	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.R564Q(1)			0						ATGCTGACCCGGTCGCTGCTC	0.602													A	46385824	G	A	46385824	3	1	172	1	0	0	0	0	1	0	0	0	8176	1116	39	1	1739	1	KIAA0427	18	46385824	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1825432	46385824	31691424	1570	94682											
LIPG	9388	broad.mit.edu	37	chr18	47110076	47110076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgcagctacctgtctcaAccccgcaaccccggacggga	9	17	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:47110076A>G	uc002ldv.2	+	8	1560	c.1308A>G	c.(1306-1308)CAA>CAG	p.Q436Q	LIPG_uc010xdh.1_Silent_p.Q362Q	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	436	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						ACCTGTCTCAACCCCGCAACC	0.587													G	47110076	A	G	47110076	2	3	172	1	0	0	0	0	0	0	0	1	8823	40	2	3		3	LIPG	18	47110076	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	724252	47110076	30967172	1571	94683											
MBD1	4152	broad.mit.edu	37	chr18	47803030	47803030	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctctggaggccactcAcctcgacagtctttgcacaa	7	16	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:47803030A>G	uc010dow.1	-	5	912	c.475_splice	c.e5+1	p.A159_splice	MBD1_uc002lef.2_Splice_Site|MBD1_uc002leg.2_Splice_Site_p.A159_splice|MBD1_uc010xdi.1_Splice_Site_p.A185_splice|MBD1_uc002leh.3_Splice_Site_p.A159_splice|MBD1_uc002len.2_Splice_Site_p.A159_splice|MBD1_uc002lei.3_Splice_Site_p.A159_splice|MBD1_uc002lej.3_Splice_Site_p.A159_splice|MBD1_uc002lek.3_Splice_Site_p.A159_splice|MBD1_uc002lel.3_Splice_Site_p.A159_splice|MBD1_uc002lem.3_Splice_Site_p.A159_splice|MBD1_uc010xdj.1_Splice_Site_p.A159_splice|MBD1_uc010xdk.1_Splice_Site_p.A159_splice|MBD1_uc010dox.1_Splice_Site_p.A159_splice|MBD1_uc002leo.2_Splice_Site_p.A159_splice	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGGCCACTCACCTCGACAGT	0.567													G	47803030	A	G	47803030	5	3	172	1	0	0	0	0	0	0	1	0	9342	173	6	3	1582	3	MBD1	18	47803030	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	692954	47803030	30274218	1572	94684											
WDR7	23335	broad.mit.edu	37	chr18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-													aaaatggacagacatggaccGggggggactttgtctcatca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		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)		AGACATGGACCGGGGGGGACT	0.418													-	54358513	G	-	54358513	7	5	172	1	0	1	0	1	0	0	0	0	17317	1116	39	0	810	0	WDR7	18	54358513	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	6555483	54358513	23718735	1573	94685											
LMAN1	3998	broad.mit.edu	37	chr18	57020469	57020469	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaataggtaatctttgctcGgacaggatagggtttgttgc	13	5	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:57020469G>A	uc002lhz.2	-	5	636	c.604C>T	c.(604-606)CGA>TGA	p.R202*	LMAN1_uc010xek.1_Nonsense_Mutation_p.R202*	NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	202	Lumenal (Potential).|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			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATCTTTGCTCGGACAGGATAG	0.408													A	57020469	G	A	57020469	4	1	172	1	0	0	0	0	0	1	0	0	8836	1124	39	1	964	1	LMAN1	18	57020469	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2661956	57020469	21056779	1574	94686											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60035961	60035961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacagttgtgtcagtAcacacacggcaaactttggt	11	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:60035961A>G	uc002lin.2	+	9	849	c.811A>G	c.(811-813)ACA>GCA	p.T271A	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	271	Cytoplasmic (Potential).				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(2)|lung(1)	3		Colorectal(73;0.188)				TTGTGTCAGTACACACACGGC	0.453									Paget_Disease_of_Bone				G	60035961	A	G	60035961	3	3	172	1	0	0	0	0	1	0	0	0	16281	391	14	3	845	3	TNFRSF11A	18	60035961	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3015492	60035961	18041287	1575	94687											
VPS4B	9525	broad.mit.edu	37	chr18	61067280	61067280	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaaattagtaacactaCcttgcatttgcactaggaac	5	8	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:61067280C>T	uc002lix.2	-	7	1050	c.790_splice	c.e7+1	p.G264_splice	VPS4B_uc010dpx.2_Splice_Site_p.G264_splice|VPS4B_uc010dpy.2_Splice_Site_p.G146_splice|VPS4B_uc010dpz.1_Splice_Site_p.G146_splice	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B						cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						AGTAACACTACCTTGCATTTG	0.214													T	61067280	C	T	61067280	5	4	172	1	0	0	0	0	0	0	1	0	17210	521	18	4	563	4	VPS4B	18	61067280	Splice_Site	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1031319	61067280	17009968	1576	94688											
SERPINB8	5271	broad.mit.edu	37	chr18	61652328	61652328	+	Splice_Site	DEL	A	A	-													actttaatttttccgttaggAaaaaaagacagtgcagatga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:61652327_61652327GA>G	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					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)				TTTCCGTTAGGAAAAAAAGAC	0.373													-	61652328	A	-	61652328	8	5	172	1	0	1	0	1	0	0	1	0	14107	260	9	0	587	0	SERPINB8	18	61652328	Splice_Site	DEL	A	TCGA-CG-4442-01A-01D-1158-08	585048	61652328	16424920	1577	94689											
CDH7	1005	broad.mit.edu	37	chr18	63529940	63529940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaggagaaacggcttcCggagacaggaacaatcagtt	12	9	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:63529940C>T	uc002ljz.2	+	11	1976	c.1651C>T	c.(1651-1653)CGG>TGG	p.R551W	CDH7_uc002lka.2_Missense_Mutation_p.R551W|CDH7_uc002lkb.2_Missense_Mutation_p.R551W	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	551	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AAACGGCTTCCGGAGACAGGA	0.458													T	63529940	C	T	63529940	3	4	172	1	0	0	0	0	1	0	0	0	3115	643	23	1	1689	1	CDH7	18	63529940	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1877612	63529940	14547308	1578	94690											
CCDC102B	79839	broad.mit.edu	37	chr18	66678242	66678242	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatattgcagaactgacTcatgcaaacaaccgagtgga	9	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:66678242T>A	uc002lkk.2	+	9	1558	c.1335T>A	c.(1333-1335)ACT>ACA	p.T445T	CCDC102B_uc002lki.2_Silent_p.T445T	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	445	Potential.									ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CAGAACTGACTCATGCAAACA	0.353													A	66678242	T	A	66678242	2	1	172	1	0	0	0	0	0	0	0	1	2737	1538	54	5		5	CCDC102B	18	66678242	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	3148302	66678242	11399006	1579	94691											
RTTN	25914	broad.mit.edu	37	chr18	67755348	67755348	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcccgtttcaagggtggtCagtgctgatcctaatcccag	11	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:67755348C>T	uc002lkp.2	-	31	4247	c.4179G>A	c.(4177-4179)CTG>CTA	p.L1393L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L481L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1393							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CAAGGGTGGTCAGTGCTGATC	0.438													T	67755348	C	T	67755348	2	4	172	1	0	0	0	0	0	0	0	1	13737	813	29	4		4	RTTN	18	67755348	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1077106	67755348	10321900	1580	94692											
TSHZ1	10194	broad.mit.edu	37	chr18	72998443	72998443	+	Frame_Shift_Del	DEL	C	C	-													gggcgcttcaggacctggcgCccccctgctcccctgagcca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:72998443delC	uc002lly.2	+	2	1509	c.946delC	c.(946-948)CCCfs	p.P316fs		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GGACCTGGCGCCCCCCTGCTC	0.597													-	72998443	C	-	72998443	7	5	172	1	0	1	0	1	0	0	0	0	16620	739	26	0	948	0	TSHZ1	18	72998443	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	5243095	72998443	5078805	1581	94693											
CTDP1	9150	broad.mit.edu	37	chr18	77470424	77470424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgacccattttctaaaaCgggaaaccttaggtatgtac	7	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:77470424C>T	uc002lnh.1	+	6	998	c.851C>T	c.(850-852)ACG>ATG	p.T284M	CTDP1_uc002lni.1_Missense_Mutation_p.T284M|CTDP1_uc010drd.1_Missense_Mutation_p.T284M	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	284	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTTTCTAAAACGGGAAACCTT	0.398													T	77470424	C	T	77470424	3	4	172	1	0	0	0	0	1	0	0	0	4002	536	19	1	873	1	CTDP1	18	77470424	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4471981	77470424	606824	1582	94694											
PARD6G	84552	broad.mit.edu	37	chr18	77918406	77918406	+	Frame_Shift_Del	DEL	G	G	-													gtccaggtgtgcacgccgccGgggtccttcatcacgcagcg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr18:77918406delG	uc002lny.2	-	3	545	c.379delC	c.(379-381)CGGfs	p.R127fs	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	127	Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		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)		GCACGCCGCCGGGGTCCTTCA	0.726													-	77918406	G	-	77918406	7	5	172	1	0	1	0	1	0	0	0	0	11447	1115	39	0	755	0	PARD6G	18	77918406	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	447982	77918406	158842	1583	94695											
C19orf21	126353	broad.mit.edu	37	chr19	757730	757730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggaagagaacaaggtgCgtgctgtgcccacctgggcc	15	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:757730C>T	uc002lpo.2	+	2	867	c.784C>T	c.(784-786)CGT>TGT	p.R262C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	262										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|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)		GAACAAGGTGCGTGCTGTGCC	0.657													T	757730	C	T	757730	3	4	172	1	0	0	0	0	1	0	0	0	1913	768	27	1	786	1	C19orf21	19	757730	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08		757730	58371253	1584	94696											
ELANE	1991	broad.mit.edu	37	chr19	856072	856072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgccccggtggcacagTttgtaaactggatcgactct	10	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:856072T>C	uc002lqb.2	+	5	750	c.712T>C	c.(712-714)TTT>CTT	p.F238L		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	238	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGTGGCACAGTTTGTAAACTG	0.642									Kostmann_syndrome				C	856072	T	C	856072	3	2	172	1	0	0	0	0	1	0	0	0	5048	1725	60	3	730	3	ELANE	19	856072	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	98342	856072	58272911	1585	94697											
MED16	10025	broad.mit.edu	37	chr19	889762	889762	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggtccgccatgctcCagcacttgatctgcccgtcg	11	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:889762C>T	uc002lqd.1	-	4	474	c.323G>A	c.(322-324)TGG>TAG	p.W108*	MED16_uc002lqe.2_Nonsense_Mutation_p.W97*|MED16_uc002lqf.2_Nonsense_Mutation_p.W97*|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Nonsense_Mutation_p.W97*|MED16_uc010xfx.1_Nonsense_Mutation_p.W97*|MED16_uc010xfy.1_Nonsense_Mutation_p.W97*	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	108	WD 1.				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				0		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)		CGCCATGCTCCAGCACTTGAT	0.622													T	889762	C	T	889762	4	4	172	1	0	0	0	0	0	1	0	0	9434	595	21	4	2362	4	MED16	19	889762	Nonsense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	33690	889762	58239221	1586	94698											
C19orf26	255057	broad.mit.edu	37	chr19	1231206	1231206	+	Frame_Shift_Del	DEL	C	C	-													gaagtcctcctggggggcatCcccctcctcctgctccgtgc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:1231206delC	uc002lrm.2	-	9	1305	c.1030delG	c.(1030-1032)GATfs	p.D344fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	370						integral to membrane					0		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)			-	1231206	C	-	1231206	7	5	172	1	0	1	0	1	0	0	0	0	1916	855	30	0	317	0	C19orf26	19	1231206	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	341444	1231206	57897777	1587	94699											
REXO1	57455	broad.mit.edu	37	chr19	1828587	1828587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccattctccctctgcgcGgggggcttgggcagctcagg	16	13	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:1828587G>A	uc002lua.3	-	2	296	c.201C>T	c.(199-201)CCC>CCT	p.P67P	REXO1_uc010dsr.1_Silent_p.P21P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	67						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		CCCTCTGCGCGGGGGGCTTGG	0.677													A	1828587	G	A	1828587	2	1	172	1	0	0	0	0	0	0	0	1	13241	1103	39	1		1	REXO1	19	1828587	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	597381	1828587	57300396	1588	94700											
KLF16	83855	broad.mit.edu	37	chr19	1854753	1854753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcacaagcaaaagggCgttcccctggacggagagac	13	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:1854753C>T	uc002luc.2	-	2	532	c.464G>A	c.(463-465)CGC>CAC	p.R155H	KLF16_uc010xgt.1_RNA	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	BTE-binding protein 4	155						nucleus	DNA binding|zinc ion binding				0		Ovarian(11;1.78e-06)|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)		AGCAAAAGGGCGTTCCCCTGG	0.657													T	1854753	C	T	1854753	3	4	172	1	0	0	0	0	1	0	0	0	8344	768	27	1	298	1	KLF16	19	1854753	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	26166	1854753	57274230	1589	94701											
DOT1L	84444	broad.mit.edu	37	chr19	2210737	2210737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggctggccgcaagcgcGggcgccccaagaagatgaac	15	12	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:2210737G>A	uc002lvb.3	+	14	1270	c.1234G>A	c.(1234-1236)GGG>AGG	p.G412R	DOT1L_uc002lvc.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	412	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	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)		CCGCAAGCGCGGGCGCCCCAA	0.607													A	2210737	G	A	2210737	3	1	172	1	0	0	0	0	1	0	0	0	4709	1116	39	1	1288	1	DOT1L	19	2210737	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	355984	2210737	56918246	1590	94702											
AMH	268	broad.mit.edu	37	chr19	2249524	2249524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggcggggacagcaatGgcagcagctcccccctgcgg	15	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:2249524G>A	uc002lvh.2	+	1	412	c.193G>A	c.(193-195)GGC>AGC	p.G65S	hsa-mir-4321|MI0015852_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone precursor	65					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity				0		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)		GGACAGCAATGGCAGCAGCTC	0.692									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				A	2249524	G	A	2249524	3	1	172	1	0	0	0	0	1	0	0	0	572	1348	47	4	195	4	AMH	19	2249524	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	38787	2249524	56879459	1591	94703											
TBXA2R	6915	broad.mit.edu	37	chr19	3600213	3600213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcgaggcgaccgccggGcgcgagaagggccgggtgat	20	12	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3600213G>A	uc002lyg.1	-	2	634	c.420C>T	c.(418-420)CGC>CGT	p.R140R	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	140	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CGACCGCCGGGCGCGAGAAGG	0.746													A	3600213	G	A	3600213	2	1	172	1	0	0	0	0	0	0	0	1	15660	1190	42	2		2	TBXA2R	19	3600213	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1350689	3600213	55528770	1592	94704											
TBXA2R	6915	broad.mit.edu	37	chr19	3600354	3600354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtccacggcgtgccactcGaagagcgcggcgtgctggga	18	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3600354G>A	uc002lyg.1	-	2	493	c.279C>T	c.(277-279)TTC>TTT	p.F93F	TBXA2R_uc002lye.1_Silent_p.F93F	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	93	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CGTGCCACTCGAAGAGCGCGG	0.672													A	3600354	G	A	3600354	2	1	172	1	0	0	0	0	0	0	0	1	15660	1049	37	1		1	TBXA2R	19	3600354	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	141	3600354	55528629	1593	94705											
TBXA2R	6915	broad.mit.edu	37	chr19	3600562	3600562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaccagggcgaggcgatcAgccgtctctcctccagggta	13	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3600562A>G	uc002lyg.1	-	2	285	c.71T>C	c.(70-72)CTG>CCG	p.L24P	TBXA2R_uc002lye.1_Missense_Mutation_p.L24P	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	24	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CGAGGCGATCAGCCGTCTCTC	0.692													G	3600562	A	G	3600562	3	3	172	1	0	0	0	0	1	0	0	0	15660	188	7	3	1213	3	TBXA2R	19	3600562	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	208	3600562	55528421	1594	94706											
PIP5K1C	23396	broad.mit.edu	37	chr19	3633494	3633494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctatagtggagcggggagtAcacccagctcctctcatcgg	13	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3633494A>G	uc002lyj.1	-	17	2002	c.1945T>C	c.(1945-1947)TAC>CAC	p.Y649H	PIP5K1C_uc010xhq.1_Intron	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	649	Mediates interaction with TLN2.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		AGCGGGGAGTACACCCAGCTC	0.706													G	3633494	A	G	3633494	3	3	172	1	0	0	0	0	1	0	0	0	11941	391	14	3	69	3	PIP5K1C	19	3633494	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	32932	3633494	55495489	1595	94707											
PIP5K1C	23396	broad.mit.edu	37	chr19	3638999	3638999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcagcagaggcaccggcCggggaagcctccaccctggg	15	15	0	1	rs146725634		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3638999C>T	uc002lyj.1	-	16	1860	c.1803G>A	c.(1801-1803)CCG>CCA	p.P601P	PIP5K1C_uc010xhq.1_Silent_p.P601P|PIP5K1C_uc010xhr.1_Silent_p.P601P	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	601					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		AGGCACCGGCCGGGGAAGCCT	0.697													T	3638999	C	T	3638999	2	4	172	1	0	0	0	0	0	0	0	1	11941	639	23	1		1	PIP5K1C	19	3638999	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	5505	3638999	55489984	1596	94708											
EEF2	1938	broad.mit.edu	37	chr19	3977575	3977575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtcgtggacgtcgaagcGcacaccccgcatgttctcct	11	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:3977575G>A	uc002lze.2	-	13	2184	c.2101C>T	c.(2101-2103)CGC>TGC	p.R701C		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	701						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		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)		ACGTCGAAGCGCACACCCCGC	0.682													A	3977575	G	A	3977575	3	1	172	1	0	0	0	0	1	0	0	0	4929	1087	38	1	487	1	EEF2	19	3977575	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	338576	3977575	55151408	1597	94709											
FSD1	79187	broad.mit.edu	37	chr19	4318416	4318416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctctccgtggagtgggaCgctatgggcgggaaggtgca	18	8	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:4318416C>T	uc002lzy.2	+	9	1026	c.873C>T	c.(871-873)GAC>GAT	p.D291D	FSD1_uc002lzz.2_Silent_p.D291D|FSD1_uc002maa.2_Silent_p.D104D	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	291	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTGGGACGCTATGGGCG	0.572													T	4318416	C	T	4318416	2	4	172	1	0	0	0	0	0	0	0	1	6070	535	19	1		1	FSD1	19	4318416	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	340841	4318416	54810567	1598	94710											
SH3GL1	6455	broad.mit.edu	37	chr19	4366969	4366969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttggtcccctcggccCctccgaccttctcactgacc	7	21	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:4366969C>A	uc002maj.2	-	2	174	c.68G>T	c.(67-69)GGG>GTG	p.G23V	SH3GL1_uc002mak.2_Missense_Mutation_p.G23V|SH3GL1_uc010xig.1_Missense_Mutation_p.G23V	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	23	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCCCTCGGCCCCTCCGACCTT	0.597			T	MLL	AL								A	4366969	C	A	4366969	3	1	172	1	0	0	0	0	1	0	0	0	14250	623	22	5	1074	5	SH3GL1	19	4366969	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	48553	4366969	54762014	1599	94711											
PTPRS	5802	broad.mit.edu	37	chr19	5231328	5231328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtacttaccatcctcGtcggtgcggacgaccacggg	14	13	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5231328G>A	uc002mbv.2	-	14	2382	c.2148C>T	c.(2146-2148)GAC>GAT	p.D716D	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.D703D|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	716	Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TACCATCCTCGTCGGTGCGGA	0.682													A	5231328	G	A	5231328	2	1	172	1	0	0	0	0	0	0	0	1	12811	1136	40	1		1	PTPRS	19	5231328	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	864359	5231328	53897655	1600	94712											
PTPRS	5802	broad.mit.edu	37	chr19	5258116	5258116	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctggtcggtttcctcActgctttcaatctgcagggc	10	13	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5258116A>G	uc002mbv.2	-	8	852	c.618T>C	c.(616-618)AGT>AGC	p.S206S	PTPRS_uc002mbu.1_Silent_p.S197S|PTPRS_uc010xin.1_Silent_p.S197S|PTPRS_uc002mbw.2_Silent_p.S197S|PTPRS_uc002mbx.2_Silent_p.S197S|PTPRS_uc002mby.2_Silent_p.S197S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	206	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGTTTCCTCACTGCTTTCAA	0.592													G	5258116	A	G	5258116	2	3	172	1	0	0	0	0	0	0	0	1	12811	156	6	3		3	PTPRS	19	5258116	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	26788	5258116	53870867	1601	94713											
SAFB	6294	broad.mit.edu	37	chr19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-													ccgggactcccgcgatggctGggggggctatggctctgaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5667115delG	uc002mcf.2	+	18	2446	c.2393delG	c.(2392-2394)TGGfs	p.W798fs	SAFB_uc002mcg.2_Frame_Shift_Del_p.W798fs|SAFB_uc002mce.3_Frame_Shift_Del_p.W797fs|SAFB_uc010xir.1_Frame_Shift_Del_p.W797fs|SAFB_uc010xis.1_Frame_Shift_Del_p.W729fs|SAFB_uc010xit.1_Frame_Shift_Del_p.W640fs|SAFB_uc010xiu.1_Frame_Shift_Del_p.W597fs	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	798	Interaction with SAFB2.|Arg-rich.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGATGGCTGGGGGGGCTAT	0.642													-	5667115	G	-	5667115	7	5	172	1	0	1	0	1	0	0	0	0	13806	1357	47	0	2463	0	SAFB	19	5667115	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	408999	5667115	53461868	1602	94714											
TMEM146	257062	broad.mit.edu	37	chr19	5754227	5754227	+	Frame_Shift_Del	DEL	C	C	-													aattgactgcttcgttgataCcccagccaggcacatccctg					rs116784915	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5754227delC	uc002mda.2	+	13	1310	c.1249delC	c.(1249-1251)CCCfs	p.P417fs	TMEM146_uc010duj.1_Frame_Shift_Del_p.P75fs	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	417	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCGTTGATACCCCAGCCAGG	0.458													-	5754227	C	-	5754227	7	5	172	1	0	1	0	1	0	0	0	0	16057	507	18	0	1299	0	TMEM146	19	5754227	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	87112	5754227	53374756	1603	94715											
DUS3L	56931	broad.mit.edu	37	chr19	5785423	5785423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtcggctgccttctgGctggccatcagcgtctccag	11	15	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5785423G>A	uc002mdc.2	-	12	1948	c.1851C>T	c.(1849-1851)AGC>AGT	p.S617S	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.S375S|DUS3L_uc010duk.2_Silent_p.S282S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	617					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						CTGCCTTCTGGCTGGCCATCA	0.687													A	5785423	G	A	5785423	2	1	172	1	0	0	0	0	0	0	0	1	4807	1194	42	2		2	DUS3L	19	5785423	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	31196	5785423	53343560	1604	94716											
RANBP3	8498	broad.mit.edu	37	chr19	5918577	5918577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaatgctcttctcgctgGccttgtcgatctgcatctgg	11	12	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:5918577G>A	uc002mdw.2	-	15	1630	c.1403C>T	c.(1402-1404)GCC>GTC	p.A468V	RANBP3_uc002mdv.2_Missense_Mutation_p.A187V|RANBP3_uc002mdx.2_Missense_Mutation_p.A463V|RANBP3_uc002mdy.2_Missense_Mutation_p.A400V|RANBP3_uc002mdz.2_Missense_Mutation_p.A395V|RANBP3_uc010duq.2_Missense_Mutation_p.A373V|RANBP3_uc002mea.2_Missense_Mutation_p.A335V|RANBP3_uc010xix.1_Missense_Mutation_p.A340V	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	468	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CTTCTCGCTGGCCTTGTCGAT	0.612													A	5918577	G	A	5918577	3	1	172	1	0	0	0	0	1	0	0	0	13029	1203	42	2	312	2	RANBP3	19	5918577	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	133154	5918577	53210406	1605	94717											
RFX2	5990	broad.mit.edu	37	chr19	6002856	6002856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtagcgccgcagcgtcTgggcgaaggcactgacgacg	16	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:6002856T>C	uc002meb.2	-	14	1795	c.1526A>G	c.(1525-1527)CAG>CGG	p.Q509R	RFX2_uc002mec.2_Missense_Mutation_p.Q484R	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CCGCAGCGTCTGGGCGAAGGC	0.667													C	6002856	T	C	6002856	3	2	172	1	0	0	0	0	1	0	0	0	13263	1580	55	3	665	3	RFX2	19	6002856	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	84279	6002856	53126127	1606	94718											
VAV1	7409	broad.mit.edu	37	chr19	6833932	6833932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggacaaactacatcGcagggctcaggacaaaaaga	9	11	1	1	rs140267055		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:6833932G>A	uc002mfu.1	+	19	1842	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H	VAV1_uc010xjh.1_Missense_Mutation_p.R550H|VAV1_uc010dva.1_Missense_Mutation_p.R582H|VAV1_uc002mfv.1_Missense_Mutation_p.R527H	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	582					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			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						AAACTACATCGCAGGGCTCAG	0.532													A	6833932	G	A	6833932	3	1	172	1	0	0	0	0	1	0	0	0	17128	1087	38	1	1819	1	VAV1	19	6833932	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	831076	6833932	52295051	1607	94719											
ARHGEF18	23370	broad.mit.edu	37	chr19	7518514	7518514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaactcaagaacgggCtcaccttccgcaaggaagac	9	14	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7518514C>T	uc002mgi.2	+	7	1706	c.1453C>T	c.(1453-1455)CTC>TTC	p.L485F	ARHGEF18_uc010xjm.1_Missense_Mutation_p.L327F|ARHGEF18_uc002mgh.2_Missense_Mutation_p.L327F|ARHGEF18_uc002mgj.1_Missense_Mutation_p.L128F	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	485					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			ovary(1)	1		Renal(5;0.0902)				CAAGAACGGGCTCACCTTCCG	0.577													T	7518514	C	T	7518514	3	4	172	1	0	0	0	0	1	0	0	0	901	797	28	2	1479	2	ARHGEF18	19	7518514	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	684582	7518514	51610469	1608	94720											
KIAA1543	57662	broad.mit.edu	37	chr19	7670306	7670306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgcggaggggcacagtgCctgctttgcccgagcgcccg	17	14	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7670306C>T	uc002mgv.3	+	2	444	c.343C>T	c.(343-345)CCT>TCT	p.P115S	KIAA1543_uc002mgu.3_Missense_Mutation_p.P115S	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	115					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						GGGCACAGTGCCTGCTTTGCC	0.677													T	7670306	C	T	7670306	3	4	172	1	0	0	0	0	1	0	0	0	8243	739	26	2	349	2	KIAA1543	19	7670306	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	151792	7670306	51458677	1609	94721											
KIAA1543	57662	broad.mit.edu	37	chr19	7675616	7675616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgctggccgagttgTtcatgtgttttgaggtgctc	15	6	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7675616T>C	uc002mgv.3	+	7	1032	c.931T>C	c.(931-933)TTC>CTC	p.F311L	KIAA1543_uc002mgu.3_Missense_Mutation_p.F338L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	311	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						GGCCGAGTTGTTCATGTGTTT	0.677													C	7675616	T	C	7675616	3	2	172	1	0	0	0	0	1	0	0	0	8243	1725	60	3	1046	3	KIAA1543	19	7675616	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5310	7675616	51453367	1610	94722											
EVI5L	115704	broad.mit.edu	37	chr19	7913812	7913812	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgctcccgtggccaggagctGatccgcaagggcatccccca	12	17	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7913812G>A	uc002min.2	+	4	487	c.333G>A	c.(331-333)CTG>CTA	p.L111L	EVI5L_uc010xjz.1_Silent_p.L111L|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	111						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GCCAGGAGCTGATCCGCAAGG	0.687													A	7913812	G	A	7913812	2	1	172	1	0	0	0	0	0	0	0	1	5290	1277	45	4		4	EVI5L	19	7913812	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	238196	7913812	51215171	1611	94723											
MAP2K7	5609	broad.mit.edu	37	chr19	7975205	7975205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgggcagcggcacctgcGgccaggtgtggaagatgcgc	18	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7975205G>A	uc002mit.2	+	4	459	c.394G>A	c.(394-396)GGC>AGC	p.G132S	MAP2K7_uc002miv.2_Missense_Mutation_p.G132S|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G132S|MAP2K7_uc010dvv.2_Missense_Mutation_p.G7S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	132	Protein kinase.|ATP (By similarity).				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CGGCACCTGCGGCCAGGTGTG	0.667													A	7975205	G	A	7975205	3	1	172	1	0	0	0	0	1	0	0	0	9242	1116	39	1	408	1	MAP2K7	19	7975205	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	61393	7975205	51153778	1612	94724											
MAP2K7	5609	broad.mit.edu	37	chr19	7976447	7976447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcgggggacttccagTccttcgtcaaagactggtga	12	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:7976447T>C	uc002mit.2	+	9	1128	c.1063T>C	c.(1063-1065)TCC>CCC	p.S355P	MAP2K7_uc002miv.2_Missense_Mutation_p.S362P|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S362P|MAP2K7_uc010dvv.2_Missense_Mutation_p.S230P	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	355	Protein kinase.				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GGACTTCCAGTCCTTCGTCAA	0.602													C	7976447	T	C	7976447	3	2	172	1	0	0	0	0	1	0	0	0	9242	1667	58	3	1097	3	MAP2K7	19	7976447	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1242	7976447	51152536	1613	94725											
FBN3	84467	broad.mit.edu	37	chr19	8201281	8201281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcggctcaccaatgcactCgccgcgcacgtcctgggtgt	12	17	1	0	rs139750989		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:8201281C>T	uc002mjf.2	-	10	1357	c.1336G>A	c.(1336-1338)GAG>AAG	p.E446K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	446	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CCAATGCACTCGCCGCGCACG	0.647													T	8201281	C	T	8201281	3	4	172	1	0	0	0	0	1	0	0	0	5704	893	31	1	7309	1	FBN3	19	8201281	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	224834	8201281	50927702	1614	94726											
HNRNPM	4670	broad.mit.edu	37	chr19	8536286	8536286	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcacctgaataaaggcatCggaatgggaaacataggtcc	10	8	1	1	rs17179758		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:8536286C>T	uc010dwe.2	+	10	1052	c.972C>T	c.(970-972)ATC>ATT	p.I324I	HNRNPM_uc010dwc.1_Silent_p.I324I|HNRNPM_uc010xke.1_Silent_p.I285I|HNRNPM_uc010dwd.2_Silent_p.I285I|HNRNPM_uc002mka.2_Silent_p.I204I	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	324					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				0						ATAAAGGCATCGGAATGGGAA	0.468													T	8536286	C	T	8536286	2	4	172	1	0	0	0	0	0	0	0	1	7271	874	31	1		1	HNRNPM	19	8536286	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	335005	8536286	50592697	1615	94727											
MUC16	94025	broad.mit.edu	37	chr19	9066715	9066715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggagctgtggccttggTtttttctgagtcagctagga	13	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9066715T>C	uc002mkp.2	-	3	20935	c.20731A>G	c.(20731-20733)ACC>GCC	p.T6911A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6913	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGGCCTTGGTTTTTTCTGAG	0.473													C	9066715	T	C	9066715	3	2	172	1	0	0	0	0	1	0	0	0	9973	1725	60	3	23120	3	MUC16	19	9066715	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	530429	9066715	50062268	1616	94728											
MUC16	94025	broad.mit.edu	37	chr19	9077648	9077648	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacttggttggtgatgtGgttcctgtgggcaggtgaga	19	4	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9077648G>T	uc002mkp.2	-	3	10002	c.9798C>A	c.(9796-9798)ACC>ACA	p.T3266T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3267	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGGTGATGTGGTTCCTGTGG	0.527													T	9077648	G	T	9077648	2	4	172	1	0	0	0	0	0	0	0	1	9973	1335	47	5		5	MUC16	19	9077648	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	10933	9077648	50051335	1617	94729											
MUC16	94025	broad.mit.edu	37	chr19	9087145	9087145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcatcgttgcagaaaggGtgtcctgtgcttgtgttgag	14	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9087145G>A	uc002mkp.2	-	1	4874	c.4670C>T	c.(4669-4671)ACC>ATC	p.T1557I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1557	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCAGAAAGGGTGTCCTGTGC	0.488													A	9087145	G	A	9087145	3	1	172	1	0	0	0	0	1	0	0	0	9973	1261	44	4	39189	4	MUC16	19	9087145	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	9497	9087145	50041838	1618	94730											
OR7G2	390882	broad.mit.edu	37	chr19	9213067	9213067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatagataaaggggttcaCcatttgagggaacacagaat	10	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213067C>T	uc010xkk.1	-	1	916	c.916G>A	c.(916-918)GTG>ATG	p.V306M		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AAGGGGTTCACCATTTGAGGG	0.458													T	9213067	C	T	9213067	3	4	172	1	0	0	0	0	1	0	0	0	11223	507	18	4	123	4	OR7G2	19	9213067	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	125922	9213067	49915916	1619	94731											
OR7G2	390882	broad.mit.edu	37	chr19	9213598	9213599	+	Frame_Shift_Ins	INS	-	-	A													agacaattttccaagccagcINSaaaaaacaagacaaagcaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213598_9213599insA	uc010xkk.1	-	1	384_385	c.384_385insT	c.(382-387)TTTGCTfs	p.F128fs		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	107_108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCCAAGCCAGCAAAAAACAAGA	0.51													A	9213599	-	A	9213598	7	5	172	1	0	1	1	0	0	0	0	0	11223	710	25	0	654	0	OR7G2	19	9213598	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	531	9213598	49915385	1620	94732	469	2									
OR7G2	390882	broad.mit.edu	37	chr19	9213599	9213600	+	Frame_Shift_Ins	INS	-	-	A													gacaattttccaagccagcaINSaaaaacaagacaaagcagat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213598_9213599C>CA	uc010xkk.2	-	0	384_385	c.384_385G>TG	c.(382-387)tttgctfs	p.F128fs		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A129fs*14(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCCAAGCCAGCAAAAAACAAGA	0.51													A	9213600	-	A	9213599	7	5	172	1	0	1	1	0	0	0	0	0	11223	127	5	0	655	0	OR7G2	19	9213599	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	9213599	49915384	1621	94733	469	2									
OR7G2	390882	broad.mit.edu	37	chr19	9213738	9213738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagagattggagaggaagAagtacatgggggtgtggagg	21	1	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:9213738A>G	uc010xkk.1	-	1	245	c.245T>C	c.(244-246)TTC>TCC	p.F82S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GGAGAGGAAGAAGTACATGGG	0.498													G	9213738	A	G	9213738	3	3	172	1	0	0	0	0	1	0	0	0	11223	246	9	3	794	3	OR7G2	19	9213738	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	139	9213738	49915245	1622	94734											
RDH8	50700	broad.mit.edu	37	chr19	10132068	10132068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctatctcccagcctccaGgaagctgttttgctccgtgg	9	15	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10132068G>T	uc002mmr.2	+	5	923	c.674G>T	c.(673-675)AGG>ATG	p.R225M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	225					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			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCCTCCAGGAAGCTGTTT	0.592													T	10132068	G	T	10132068	3	4	172	1	0	0	0	0	1	0	0	0	13196	1000	35	5	692	5	RDH8	19	10132068	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	918330	10132068	48996915	1623	94735											
PDE4A	5141	broad.mit.edu	37	chr19	10568615	10568615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacgagaaaaacagcaagCgccgcgaccaagaccctccc	10	15	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10568615C>T	uc002moj.2	+	8	1046	c.938C>T	c.(937-939)GCG>GTG	p.A313V	PDE4A_uc002mok.2_Missense_Mutation_p.A287V|PDE4A_uc002mol.2_Missense_Mutation_p.A252V|PDE4A_uc002mom.2_Missense_Mutation_p.A74V|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	313					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			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)	AAACAGCAAGCGCCGCGACCA	0.532													T	10568615	C	T	10568615	3	4	172	1	0	0	0	0	1	0	0	0	11639	768	27	1	1425	1	PDE4A	19	10568615	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	436547	10568615	48560368	1624	94736											
SLC44A2	57153	broad.mit.edu	37	chr19	10746171	10746171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcccctgcccatttactGcgaaaacctgcaacccagag	7	16	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10746171G>A	uc002mpf.2	+	14	1352	c.1213G>A	c.(1213-1215)GCG>ACG	p.A405T	SLC44A2_uc002mpe.3_Missense_Mutation_p.A403T|SLC44A2_uc002mpg.1_Missense_Mutation_p.A125T|SLC44A2_uc002mph.2_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	405	Extracellular (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCCATTTACTGCGAAAACCTG	0.557													A	10746171	G	A	10746171	3	1	172	1	0	0	0	0	1	0	0	0	14636	1319	46	2	1302	2	SLC44A2	19	10746171	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	177556	10746171	48382812	1625	94737											
TMED1	11018	broad.mit.edu	37	chr19	10943855	10943855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgagcatctggatgctgCgctccagccgggtccgcatg	15	13	1	1	rs151223408	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:10943855C>T	uc002mpy.2	-	4	616	c.500G>A	c.(499-501)CGC>CAC	p.R167H	DNM2_uc002mpx.1_3'UTR	NM_006858	NP_006849	Q13445	TMED1_HUMAN	interleukin 1 receptor-like 1 ligand precursor	167	Extracellular (Potential).				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CTGGATGCTGCGCTCCAGCCG	0.617													T	10943855	C	T	10943855	3	4	172	1	0	0	0	0	1	0	0	0	15999	768	27	1	187	1	TMED1	19	10943855	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	197684	10943855	48185128	1626	94738											
C19orf52	90580	broad.mit.edu	37	chr19	11040108	11040108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgggcttcgtgggtcgCtggtgggtgctgggggcctg	22	8	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11040108C>T	uc002mqd.1	+	2	588	c.513C>T	c.(511-513)CGC>CGT	p.R171R	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	171											0						TCGTGGGTCGCTGGTGGGTGC	0.706													T	11040108	C	T	11040108	2	4	172	1	0	0	0	0	0	0	0	1	1934	784	28	2		2	C19orf52	19	11040108	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	96253	11040108	48088875	1627	94739											
RAB3D	9545	broad.mit.edu	37	chr19	11446376	11446376	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaaggattcctgattggcGatgtcatacatgagcaggaa	12	7	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11446376G>A	uc002mqy.2	-	3	550	c.312C>T	c.(310-312)ATC>ATT	p.I104I		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	104					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						CCTGATTGGCGATGTCATACA	0.607													A	11446376	G	A	11446376	2	1	172	1	0	0	0	0	0	0	0	1	12934	1048	37	1		1	RAB3D	19	11446376	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	406268	11446376	47682607	1628	94740											
CCDC151	115948	broad.mit.edu	37	chr19	11537809	11537809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacctggtgccgcagggCgttctgctgcttcaccttct	10	16	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11537809C>T	uc002mrs.2	-	4	639	c.496G>A	c.(496-498)GCC>ACC	p.A166T	CCDC151_uc002mrr.2_Missense_Mutation_p.A101T|CCDC151_uc010dxz.2_Missense_Mutation_p.A140T	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	166	Potential.									ovary(1)	1						TGCCGCAGGGCGTTCTGCTGC	0.657													T	11537809	C	T	11537809	3	4	172	1	0	0	0	0	1	0	0	0	2786	768	27	1	1331	1	CCDC151	19	11537809	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	91433	11537809	47591174	1629	94741											
CNN1	1264	broad.mit.edu	37	chr19	11658614	11658614	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccctgccccacctaggcGaagacgaaaggaaacaaggt	10	12	0	1	rs3826802	by1000genomes	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:11658614G>A	uc002msc.1	+	5	557	c.393G>A	c.(391-393)GCG>GCA	p.A131A	CNN1_uc010xmb.1_Silent_p.A81A|CNN1_uc010xmc.1_Silent_p.A81A	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	131	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						CCACCTAGGCGAAGACGAAAG	0.493													A	11658614	G	A	11658614	2	1	172	1	0	0	0	0	0	0	0	1	3609	1045	37	1		1	CNN1	19	11658614	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	120805	11658614	47470369	1630	94742											
ZNF878	729747	broad.mit.edu	37	chr19	12155625	12155626	+	Frame_Shift_Ins	INS	-	-	T													actgcttacattcatagggtINSttttttgcagagtggattct							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:12155624_12155625G>GT	uc021upl.1	-	3	757_758	c.591_592C>AC	c.(589-594)aaacccfs	p.K197fs	ZNF878_uc002mta.1_Frame_Shift_Ins_p.K244fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	197					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						CATTCATAGGGTTTTTTTGCAG	0.396													T	12155626	-	T	12155625	7	5	172	1	0	1	1	0	0	0	0	0	18193	1722	60	0	1008	0	ZNF878	19	12155625	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	497011	12155625	46973358	1631	94743											
ZNF44	51710	broad.mit.edu	37	chr19	12383962	12383962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagataacaatttcccacAttgcttacattcatagggtt	6	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:12383962A>G	uc010xmj.1	-	5	1457	c.1252T>C	c.(1252-1254)TGT>CGT	p.C418R	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.C370R	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	418	C2H2-type 9.				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)		AATTTCCCACATTGCTTACAT	0.418													G	12383962	A	G	12383962	3	3	172	1	0	0	0	0	1	0	0	0	17909	217	8	3	743	3	ZNF44	19	12383962	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	228337	12383962	46745021	1632	94744											
GCDH	2639	broad.mit.edu	37	chr19	13008601	13008601	+	Frame_Shift_Del	DEL	G	G	-													cgccaggcccgagacatgctGggggggaatgggatttctga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13008600_13008600TG>T	uc002mvq.3	+	10	1243	c.1166_1166TG>T	c.(1165-1167)ctgfs	p.L389fs	GCDH_uc002mvp.3_Frame_Shift_Del_p.L389fs|GCDH_uc010xmt.2_Frame_Shift_Del_p.L223fs|GCDH_uc010xmu.2_Frame_Shift_Del_p.L345fs	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.M388I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAAT	0.602													-	13008601	G	-	13008601	7	5	172	1	0	1	0	1	0	0	0	0	6287	1335	47	0	1205	0	GCDH	19	13008601	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	624639	13008601	46120382	1633	94745											
NACC1	112939	broad.mit.edu	37	chr19	13249039	13249039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacatgtgcaccaacgcccGccgcgtcgtgcgcaagagct	12	16	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13249039G>A	uc002mwm.2	+	6	1571	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	468	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						ACCAACGCCCGCCGCGTCGTG	0.617													A	13249039	G	A	13249039	3	1	172	1	0	0	0	0	1	0	0	0	10135	1087	38	1	1421	1	NACC1	19	13249039	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	240438	13249039	45879944	1634	94746											
CACNA1A	773	broad.mit.edu	37	chr19	13346469	13346469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaagaatgcggatggTgtaaccctgacggagaagtt	14	7	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13346469T>C	uc010dze.2	-	32	5265	c.5029A>G	c.(5029-5031)ACC>GCC	p.T1677A	CACNA1A_uc010xnd.1_Missense_Mutation_p.T382A|CACNA1A_uc002mwx.3_Missense_Mutation_p.T382A|CACNA1A_uc010dzc.2_Missense_Mutation_p.T1202A|CACNA1A_uc002mwy.3_Missense_Mutation_p.T1676A|CACNA1A_uc002mwv.3_Missense_Mutation_p.T193A	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1677	IV.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGCGGATGGTGTAACCCTGA	0.562											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	13346469	T	C	13346469	3	2	172	1	0	0	0	0	1	0	0	0	2538	1696	59	3	2659	3	CACNA1A	19	13346469	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	97430	13346469	45782514	1635	94747											
CACNA1A	773	broad.mit.edu	37	chr19	13373629	13373629	+	Frame_Shift_Del	DEL	T	T	-													gatttaatcgtgttgatgtcTtttcctttgctattgccact							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:13373629delT	uc010dze.2	-	25	4247	c.4011delA	c.(4009-4011)AAAfs	p.K1337fs	CACNA1A_uc010xnd.1_Frame_Shift_Del_p.K42fs|CACNA1A_uc002mwx.3_Frame_Shift_Del_p.K42fs|CACNA1A_uc010dzc.2_Frame_Shift_Del_p.K862fs|CACNA1A_uc002mwy.3_Frame_Shift_Del_p.K1336fs|CACNA1A_uc010xne.1_Frame_Shift_Del_p.K865fs	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1337	III.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGTTGATGTCTTTTCCTTTGC	0.527											OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	13373629	T	-	13373629	7	5	172	1	0	1	0	1	0	0	0	0	2538	1606	56	0	3706	0	CACNA1A	19	13373629	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	27160	13373629	45755354	1636	94748											
CC2D1A	54862	broad.mit.edu	37	chr19	14029367	14029367	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggggtgagcccgtggacctCtcctgcctgccccctccacc	11	20	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14029367C>A	uc002mxo.2	+	8	1223	c.924C>A	c.(922-924)CTC>CTA	p.L308L	CC2D1A_uc002mxn.2_Silent_p.L207L|CC2D1A_uc002mxp.2_Silent_p.L308L|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	308	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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCGTGGACCTCTCCTGCCTGC	0.592													A	14029367	C	A	14029367	2	1	172	1	0	0	0	0	0	0	0	1	2726	900	32	5		5	CC2D1A	19	14029367	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	655738	14029367	45099616	1637	94749											
CC2D1A	54862	broad.mit.edu	37	chr19	14034390	14034390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccactcaaaccaattcacCcagctgggcaacatcactga	5	15	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14034390C>T	uc002mxo.2	+	16	2093	c.1794C>T	c.(1792-1794)ACC>ACT	p.T598T	CC2D1A_uc002mxp.2_Silent_p.T598T|CC2D1A_uc010dzh.2_Silent_p.T167T|CC2D1A_uc002mxq.1_Silent_p.T243T	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	598					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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACCAATTCACCCAGCTGGGCA	0.592													T	14034390	C	T	14034390	2	4	172	1	0	0	0	0	0	0	0	1	2726	610	22	4		4	CC2D1A	19	14034390	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	5023	14034390	45094593	1638	94750											
PKN1	5585	broad.mit.edu	37	chr19	14582559	14582559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccgcggagcaggcagCcttcctggacttcgacttcg	12	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14582559C>T	uc002myp.2	+	22	2960	c.2792C>T	c.(2791-2793)GCC>GTC	p.A931V	PKN1_uc002myq.2_Missense_Mutation_p.A937V|PKN1_uc002myr.2_Missense_Mutation_p.A271V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	931	AGC-kinase C-terminal.				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			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						GAGCAGGCAGCCTTCCTGGAC	0.542													T	14582559	C	T	14582559	3	4	172	1	0	0	0	0	1	0	0	0	11979	739	26	2	2921	2	PKN1	19	14582559	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	548169	14582559	44546424	1639	94751											
GIPC1	10755	broad.mit.edu	37	chr19	14593766	14593766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagggggcgcctttttcCgccgccccagtcccagcggc	13	17	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14593766C>T	uc002myt.2	-	4	293	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	GIPC1_uc002myu.2_Missense_Mutation_p.R8Q|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Missense_Mutation_p.R8Q|GIPC1_uc002myy.2_Intron	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	8					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				0						CGCCTTTTTCCGCCGCCCCAG	0.687													T	14593766	C	T	14593766	3	4	172	1	0	0	0	0	1	0	0	0	6392	652	23	1	1002	1	GIPC1	19	14593766	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	11207	14593766	44535217	1640	94752											
EMR3	84658	broad.mit.edu	37	chr19	14772873	14772873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttccttcgacattgTaacacacagcgttaaatcca	5	11	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:14772873T>C	uc002mzi.3	-	4	405	c.257A>G	c.(256-258)TAC>TGC	p.Y86C	EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	86	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						TTCGACATTGTAACACACAGC	0.363													C	14772873	T	C	14772873	3	2	172	1	0	0	0	0	1	0	0	0	5106	1638	57	3	1753	3	EMR3	19	14772873	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	179107	14772873	44356110	1641	94753											
NOTCH3	4854	broad.mit.edu	37	chr19	15281319	15281319	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacagcgcccgccactagcAgtggcagcagcgggacgctg	15	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:15281319A>C	uc002nan.2	-	27	5013	c.4937T>G	c.(4936-4938)CTG>CGG	p.L1646R		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1646	Helical; (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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGCCACTAGCAGTGGCAGCAG	0.682													C	15281319	A	C	15281319	3	2	172	1	0	0	0	0	1	0	0	0	10550	188	7	5	2056	5	NOTCH3	19	15281319	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	508446	15281319	43847664	1642	94754											
CYP4F22	126410	broad.mit.edu	37	chr19	15648443	15648443	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcctgaagccttacatgaaGatcttcaaccagagcgctga	8	11	2	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:15648443G>T	uc002nbh.3	+	6	686	c.519G>T	c.(517-519)AAG>AAT	p.K173N		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	173						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CTTACATGAAGATCTTCAACC	0.557													T	15648443	G	T	15648443	3	4	172	1	0	0	0	0	1	0	0	0	4189	933	33	5	533	5	CYP4F22	19	15648443	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	367124	15648443	43480540	1643	94755											
CYP4F2	8529	broad.mit.edu	37	chr19	16000362	16000362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcatctgtgaagtcgtgCaccaggcggcaggccctgcg	15	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:16000362C>T	uc002nbs.1	-	7	839	c.789G>A	c.(787-789)GTG>GTA	p.V263V	CYP4F2_uc010xot.1_Silent_p.V114V|CYP4F2_uc010xou.1_Silent_p.V114V	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	263					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			ovary(1)|skin(1)	2						TGAAGTCGTGCACCAGGCGGC	0.557													T	16000362	C	T	16000362	2	4	172	1	0	0	0	0	0	0	0	1	4188	697	25	2		2	CYP4F2	19	16000362	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	351919	16000362	43128621	1644	94756											
OR10H4	126541	broad.mit.edu	37	chr19	16060359	16060359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccaccattttttctgtcAtgtgctttccctcttgaagt	6	11	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:16060359A>G	uc010xov.1	+	1	542	c.542A>G	c.(541-543)CAT>CGT	p.H181R		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TTTTTCTGTCATGTGCTTTCC	0.473													G	16060359	A	G	16060359	3	3	172	1	0	0	0	0	1	0	0	0	10908	217	8	3	544	3	OR10H4	19	16060359	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	59997	16060359	43068624	1645	94757											
CIB3	117286	broad.mit.edu	37	chr19	16275654	16275654	+	Frame_Shift_Del	DEL	C	C	-													ctcacctcctcggcactcagCcccccccgcgtcagtttggt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:16275653_16275653GC>G	uc002nds.3	-	4	418	c.418_418GC>C	c.(418-420)ctgfs	p.L140fs	CIB3_uc010eae.3_Frame_Shift_Del_p.L79fs|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Frame_Shift_Del_p.L91fs	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	140							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGGCACTCAGCCCCCCCCGC	0.562													-	16275654	C	-	16275654	7	5	172	1	0	1	0	1	0	0	0	0	3422	726	26	0	154	0	CIB3	19	16275654	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	215295	16275654	42853329	1646	94758											
FAM129C	199786	broad.mit.edu	37	chr19	17648228	17648228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactccctcttggaagtgccTgtgagcttcccgctgttcct	10	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:17648228T>C	uc010xpr.1	+	6	702	c.564T>C	c.(562-564)CCT>CCC	p.P188P	FAM129C_uc010xpq.1_Silent_p.P188P|FAM129C_uc010xps.1_Silent_p.P157P|FAM129C_uc010xpt.1_RNA|FAM129C_uc002ngy.3_5'Flank|FAM129C_uc010xpu.1_5'Flank|FAM129C_uc002ngz.3_5'Flank|FAM129C_uc010eaw.2_5'Flank|FAM129C_uc002nhb.2_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	188											0						TGGAAGTGCCTGTGAGCTTCC	0.557													C	17648228	T	C	17648228	2	2	172	1	0	0	0	0	0	0	0	1	5438	1567	55	3		3	FAM129C	19	17648228	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	1372574	17648228	41480755	1647	94759											
KCNN1	3780	broad.mit.edu	37	chr19	18084793	18084793	+	Frame_Shift_Del	DEL	C	C	-													ccggaccctgaggccggccaCcccccacaacccccgcacag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:18084793delC	uc002nht.2	+	3	406	c.96delC	c.(94-96)CACfs	p.H32fs	KCNN1_uc010xqa.1_Frame_Shift_Del_p.H32fs	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	32					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						AGGCCGGCCACCCCCCACAAC	0.746													-	18084793	C	-	18084793	7	5	172	1	0	1	0	1	0	0	0	0	8078	506	18	0	98	0	KCNN1	19	18084793	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	436565	18084793	41044190	1648	94760											
ELL	8178	broad.mit.edu	37	chr19	18561518	18561519	+	Frame_Shift_Del	DEL	CA	CA	-													ggcagccgcctctccgtgctCacagtctcggccgctgtggc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:18561518_18561519delCA	uc002njh.2	-	8	1305_1306	c.1233_1234delTG	c.(1231-1236)TGTGAGfs	p.C411fs	ELL_uc010ebq.2_Frame_Shift_Del_p.C354fs|ELL_uc002njg.2_Frame_Shift_Del_p.C278fs	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	411_412					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCTCCGTGCTCACAGTCTCGGC	0.738			T	MLL	AL								-	18561519	CA	-	18561518	7	5	172	1	0	1	0	1	0	0	0	0	5062	835	29	0	651	0	ELL	19	18561518	Frame_Shift_Del	DEL	CA	TCGA-CG-4442-01A-01D-1158-08	476725	18561518	40567465	1649	94761											
FKBP8	23770	broad.mit.edu	37	chr19	18649226	18649226	+	Frame_Shift_Del	DEL	G	G	-													ccaggcacagggccgcgtgcGgggggatgtatgggctcctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:18649226delG	uc002njk.1	-	5	682	c.569delC	c.(568-570)CCGfs	p.P190fs	FKBP8_uc002nji.1_Frame_Shift_Del_p.P28fs|FKBP8_uc010xqi.1_Frame_Shift_Del_p.P219fs|FKBP8_uc002njj.1_Frame_Shift_Del_p.P191fs|FKBP8_uc002njl.1_Frame_Shift_Del_p.P191fs|FKBP8_uc002njm.1_Frame_Shift_Del_p.P190fs|FKBP8_uc010ebr.1_Frame_Shift_Del_p.P29fs|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	190	PPIase FKBP-type.				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			ovary(1)	1						GGCCGCGTGCGGGGGGATGTA	0.682													-	18649226	G	-	18649226	7	5	172	1	0	1	0	1	0	0	0	0	5914	1116	39	0	689	0	FKBP8	19	18649226	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	87708	18649226	40479757	1650	94762											
TMEM161A	54929	broad.mit.edu	37	chr19	19232368	19232368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccgacatggtcagtgCgtcccggtgggtctgggcca	15	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:19232368C>T	uc002nlg.2	-	8	796	c.766G>A	c.(766-768)GCA>ACA	p.A256T	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.A231T|TMEM161A_uc002nli.2_Missense_Mutation_p.A153T|TMEM161A_uc002nlj.2_Missense_Mutation_p.A131T	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	256	Extracellular (Potential).				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)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			ATGGTCAGTGCGTCCCGGTGG	0.657													T	19232368	C	T	19232368	3	4	172	1	0	0	0	0	1	0	0	0	16073	768	27	1	693	1	TMEM161A	19	19232368	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	583142	19232368	39896615	1651	94763											
ZNF682	91120	broad.mit.edu	37	chr19	20133814	20133814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcattcatccaacctaccTgggggtttggctatggtctc	9	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:20133814T>C	uc002noq.2	-	3	348	c.225A>G	c.(223-225)CCA>CCG	p.P75P	ZNF682_uc002noo.2_Silent_p.P43P|ZNF682_uc002nop.2_Silent_p.P43P|ZNF682_uc010eck.2_Intron	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CCAACCTACCTGGGGGTTTGG	0.473													C	20133814	T	C	20133814	2	2	172	1	0	0	0	0	0	0	0	1	18086	1594	55	3		3	ZNF682	19	20133814	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	901446	20133814	38995169	1652	94764											
ZNF430	80264	broad.mit.edu	37	chr19	21240210	21240210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttactacacataagataAttcatgctggagagaaacct	6	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:21240210A>G	uc002npj.2	+	5	1206	c.1096A>G	c.(1096-1098)ATT>GTT	p.I366V	ZNF430_uc002npk.2_Missense_Mutation_p.I365V	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	366	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						ACATAAGATAATTCATGCTGG	0.348													G	21240210	A	G	21240210	3	3	172	1	0	0	0	0	1	0	0	0	17901	101	4	3	1114	3	ZNF430	19	21240210	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1106396	21240210	37888773	1653	94765											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698962	29698962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctttcctagcctcgctGctttctcttgaagacttcgt	6	13	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:29698962G>A	uc002nsd.2	-	2	429	c.318C>T	c.(316-318)AGC>AGT	p.S106S		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	106					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TAGCCTCGCTGCTTTCTCTTG	0.473													A	29698962	G	A	29698962	2	1	172	1	0	0	0	0	0	0	0	1	17018	1310	46	2		2	UQCRFS1	19	29698962	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	8458752	29698962	29430021	1654	94766											
ZNF536	9745	broad.mit.edu	37	chr19	30935815	30935815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagccggcctgagcgagcCcagccagctctatggcaagg	13	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:30935815C>A	uc002nsu.1	+	2	1484	c.1346C>A	c.(1345-1347)CCC>CAC	p.P449H	ZNF536_uc010edd.1_Missense_Mutation_p.P449H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CTGAGCGAGCCCAGCCAGCTC	0.657													A	30935815	C	A	30935815	3	1	172	1	0	0	0	0	1	0	0	0	17971	623	22	5	1348	5	ZNF536	19	30935815	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1236853	30935815	28193168	1655	94767											
ZNF536	9745	broad.mit.edu	37	chr19	31039827	31039827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcatggaccggccacgtgGaccctgcattttgtaacttc	11	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:31039827G>A	uc002nsu.1	+	4	3439	c.3301G>A	c.(3301-3303)GAC>AAC	p.D1101N	ZNF536_uc010edd.1_Missense_Mutation_p.D1101N	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGGCCACGTGGACCCTGCATT	0.542													A	31039827	G	A	31039827	3	1	172	1	0	0	0	0	1	0	0	0	17971	1174	41	4	3311	4	ZNF536	19	31039827	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	104012	31039827	28089156	1656	94768											
RGS9BP	388531	broad.mit.edu	37	chr19	33167385	33167385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggccgccgacgagcgCgccgagttcgagcggctctg	17	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:33167385C>T	uc002ntp.1	+	1	1073	c.216C>T	c.(214-216)CGC>CGT	p.R72R	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	RGS9 anchor protein	72	Cytoplasmic (Potential).				negative regulation of signal transduction	integral to membrane				central_nervous_system(1)	1	Esophageal squamous(110;0.137)					CCGACGAGCGCGCCGAGTTCG	0.731													T	33167385	C	T	33167385	2	4	172	1	0	0	0	0	0	0	0	1	13314	755	27	1		1	RGS9BP	19	33167385	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2127558	33167385	25961598	1657	94769											
WDR88	126248	broad.mit.edu	37	chr19	33638559	33638559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatttccagagtcattgCcgcatcctatgataagacag	7	10	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:33638559C>T	uc002nui.2	+	4	563	c.485C>T	c.(484-486)GCC>GTC	p.A162V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	162	WD 2.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					AGAGTCATTGCCGCATCCTAT	0.398													T	33638559	C	T	33638559	3	4	172	1	0	0	0	0	1	0	0	0	17332	739	26	2	499	2	WDR88	19	33638559	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	471174	33638559	25490424	1658	94770											
SCN1B	6324	broad.mit.edu	37	chr19	35523445	35523445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagtgtcctcagcctgCgggggctgcgtggaggtgga	17	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:35523445C>T	uc002nxp.2	+	2	245	c.54C>T	c.(52-54)TGC>TGT	p.C18C	SCN1B_uc002nxo.1_Silent_p.C18C|SCN1B_uc010xsg.1_Silent_p.C18C	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	18					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTCAGCCTGCGGGGGCTGCG	0.612													T	35523445	C	T	35523445	2	4	172	1	0	0	0	0	0	0	0	1	13915	776	27	1		1	SCN1B	19	35523445	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1884886	35523445	23605538	1659	94771											
FAM187B	148109	broad.mit.edu	37	chr19	35719446	35719446	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtaccagtgcgcccccgaGgagttgcaatacaggagaat	12	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:35719446G>T	uc002nyk.1	-	1	183	c.138C>A	c.(136-138)TCC>TCA	p.S46S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	46	Extracellular (Potential).					integral to membrane				ovary(2)	2						GCGCCCCCGAGGAGTTGCAAT	0.532													T	35719446	G	T	35719446	2	4	172	1	0	0	0	0	0	0	0	1	5513	987	35	5		5	FAM187B	19	35719446	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	196001	35719446	23409537	1660	94772											
GAPDHS	26330	broad.mit.edu	37	chr19	36034357	36034357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcctccactggggctgCgaaagctgtgaccaaagtca	11	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36034357C>T	uc002oaf.1	+	8	973	c.857C>T	c.(856-858)GCG>GTG	p.A286V	uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	286					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	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)	ACTGGGGCTGCGAAAGCTGTG	0.622													T	36034357	C	T	36034357	3	4	172	1	0	0	0	0	1	0	0	0	6237	768	27	1	887	1	GAPDHS	19	36034357	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	314911	36034357	23094626	1661	94773											
UPK1A	11045	broad.mit.edu	37	chr19	36166867	36166868	+	Frame_Shift_Ins	INS	-	-	C													gccggacgggaaacttcatcINScccctcaacgaggagggctg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36166866_36166867T>TC	uc010eeh.3	+	4	593_594	c.593_594T>TC	c.(592-594)atcfs	p.I198fs	UPK1A_uc002oaw.3_Frame_Shift_Ins_p.I198fs|BC007817_uc002oax.1_5'Flank			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	198					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	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)			GGAAACTTCATCCCCCTCAACG	0.634													C	36166868	-	C	36166867	7	5	172	1	0	1	1	0	0	0	0	0	17004	845	30	0	612	0	UPK1A	19	36166867	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	132510	36166867	22962116	1662	94774											
MLL4	9757	broad.mit.edu	37	chr19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-													tcgccatcccggaggcccttGgggggtgtctcctttggccc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36223002delG	uc010eei.2	+	28	5631	c.5631delG	c.(5629-5631)TTGfs	p.L1877fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1877					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGGCCCTTGGGGGGTGTCT	0.672													-	36223002	G	-	36223002	7	5	172	1	0	1	0	1	0	0	0	0	9623	1339	47	0	5737	0	MLL4	19	36223002	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	56135	36223002	22905981	1663	94775											
KIRREL2	84063	broad.mit.edu	37	chr19	36351855	36351855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagcccgtgtccgtggacGtgggggaagacgcttccttc	16	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:36351855G>A	uc002ocb.3	+	8	1185	c.973G>A	c.(973-975)GTG>ATG	p.V325M	KIRREL2_uc002obz.3_Missense_Mutation_p.V325M|KIRREL2_uc002oca.3_Missense_Mutation_p.V275M|KIRREL2_uc002occ.3_Missense_Mutation_p.V272M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V322M	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	325	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)			GTCCGTGGACGTGGGGGAAGA	0.662													A	36351855	G	A	36351855	3	1	172	1	0	0	0	0	1	0	0	0	8325	1145	40	1	1003	1	KIRREL2	19	36351855	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	128853	36351855	22777128	1664	94776											
ZNF382	84911	broad.mit.edu	37	chr19	37117125	37117125	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatcaaccacaaaaaacTaattaaggagagaagtaata	5	6	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:37117125T>G	uc002oek.2	+	5	439	c.326T>G	c.(325-327)CTA>CGA	p.L109R	ZNF382_uc010efa.2_Missense_Mutation_p.L60R|ZNF382_uc010efb.2_Missense_Mutation_p.L108R|ZNF382_uc002oel.2_Missense_Mutation_p.L108R	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	109	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CACAAAAAACTAATTAAGGAG	0.323													G	37117125	T	G	37117125	3	3	172	1	0	0	0	0	1	0	0	0	17870	1522	53	5	336	5	ZNF382	19	37117125	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	765270	37117125	22011858	1665	94777											
ZNF585B	92285	broad.mit.edu	37	chr19	37697974	37697974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatgatcctctggagccaGggctgaggatttctggggtg	16	9	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:37697974G>T	uc002ofq.2	-	2	294	c.40C>A	c.(40-42)CTG>ATG	p.L14M	ZNF585B_uc002ofr.1_Translation_Start_Site	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGGAGCCAGGGCTGAGGAT	0.522													T	37697974	G	T	37697974	3	4	172	1	0	0	0	0	1	0	0	0	18015	991	35	5	2285	5	ZNF585B	19	37697974	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	580849	37697974	21431009	1666	94778											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610300	38610300	+	Frame_Shift_Del	DEL	G	G	-													gtggcccaggactacgcccaGggggtggaaatcgactgcat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:38610300delG	uc002ohk.2	+	9	3155	c.2646delG	c.(2644-2646)CAGfs	p.Q882fs		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	882					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACTACGCCCAGGGGGTGGAAA	0.572													-	38610300	G	-	38610300	7	5	172	1	0	1	0	1	0	0	0	0	14331	991	35	0	2672	0	SIPA1L3	19	38610300	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	912326	38610300	20518683	1667	94779											
SIPA1L3	23094	broad.mit.edu	37	chr19	38643562	38643562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggcgactcctcttccGgcggcctgaccagccaggag	13	17	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:38643562G>A	uc002ohk.2	+	13	4125	c.3616G>A	c.(3616-3618)GGC>AGC	p.G1206S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1206					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTCTTCCGGCGGCCTGAC	0.667													A	38643562	G	A	38643562	3	1	172	1	0	0	0	0	1	0	0	0	14331	1116	39	1	3658	1	SIPA1L3	19	38643562	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	33262	38643562	20485421	1668	94780											
RYR1	6261	broad.mit.edu	37	chr19	38990588	38990588	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaaccgggtgcacctgGgacacgccatcatgtccttc	10	13	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:38990588G>T	uc002oit.2	+	45	7385	c.7255G>T	c.(7255-7257)GGA>TGA	p.G2419*	RYR1_uc002oiu.2_Nonsense_Mutation_p.G2419*|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2419	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGCACCTGGGACACGCCAT	0.637													T	38990588	G	T	38990588	4	4	172	1	0	0	0	0	0	1	0	0	13768	1233	43	5	7433	5	RYR1	19	38990588	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	347026	38990588	20138395	1669	94781											
CAPN12	147968	broad.mit.edu	37	chr19	39228150	39228150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgccggagttgaagccaCgcacccagcggccttggaag	13	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:39228150C>T	uc002ojd.1	-	9	1403	c.1094G>A	c.(1093-1095)CGT>CAT	p.R365H	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	365	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTTGAAGCCACGCACCCAGCG	0.706													T	39228150	C	T	39228150	3	4	172	1	0	0	0	0	1	0	0	0	2625	536	19	1	1117	1	CAPN12	19	39228150	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	237562	39228150	19900833	1670	94782											
IL28B	282617	broad.mit.edu	37	chr19	39734729	39734729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggctgggtcagtgtcAgcggtggcctccagaacctt	14	13	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:39734729A>G	uc010xut.1	-	3	331	c.327T>C	c.(325-327)GCT>GCC	p.A109A	IL28B_uc010xuu.1_Silent_p.A109A	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	109					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTCAGTGTCAGCGGTGGCCT	0.572													G	39734729	A	G	39734729	2	3	172	1	0	0	0	0	0	0	0	1	7683	175	7	3		3	IL28B	19	39734729	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	506579	39734729	19394254	1671	94783											
FCGBP	8857	broad.mit.edu	37	chr19	40362848	40362848	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtcgtatacgcattgGcggaagtactcagagggact	13	9	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:40362848G>C	uc002omp.3	-	32	15230	c.15222C>G	c.(15220-15222)CGC>CGG	p.R5074R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5074						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			ATACGCATTGGCGGAAGTACT	0.667													C	40362848	G	C	40362848	2	2	172	1	0	0	0	0	0	0	0	1	5778	1190	42	5		5	FCGBP	19	40362848	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	628119	40362848	18766135	1672	94784											
FCGBP	8857	broad.mit.edu	37	chr19	40424239	40424239	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcaggcgggacagttgTtctggcagccatcctcacac	14	12	2	0	rs144589100		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:40424239T>G	uc002omp.3	-	4	1972	c.1964A>C	c.(1963-1965)AAC>ACC	p.N655T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	655	VWFD 1.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			GGGACAGTTGTTCTGGCAGCC	0.617													G	40424239	T	G	40424239	3	3	172	1	0	0	0	0	1	0	0	0	5778	1725	60	5	14385	5	FCGBP	19	40424239	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	61391	40424239	18704744	1673	94785											
SPTBN4	57731	broad.mit.edu	37	chr19	41008168	41008168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaactccttaagtggggTgcagcagcaactccaggctt	11	12	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41008168T>C	uc002ony.2	+	9	1117	c.1031T>C	c.(1030-1032)GTG>GCG	p.V344A	SPTBN4_uc002onx.2_Missense_Mutation_p.V344A|SPTBN4_uc002onz.2_Missense_Mutation_p.V344A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	344	Spectrin 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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTAAGTGGGGTGCAGCAGCAA	0.607													C	41008168	T	C	41008168	3	2	172	1	0	0	0	0	1	0	0	0	15120	1696	59	3	1061	3	SPTBN4	19	41008168	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	583929	41008168	18120815	1674	94786											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41807512	41807512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcgcaaagctattgtAatttgtcccactgacgagga	9	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41807512A>G	uc002oqb.3	+	11	1879	c.1590A>G	c.(1588-1590)GTA>GTG	p.V530V	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.V430V|HNRNPUL1_uc002oqa.3_Silent_p.V430V|HNRNPUL1_uc010ehm.2_Silent_p.V530V|HNRNPUL1_uc002oqc.3_Silent_p.V416V|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.V430V|HNRNPUL1_uc010ehn.2_Silent_p.V430V|HNRNPUL1_uc010eho.2_Silent_p.V430V|HNRNPUL1_uc010xvy.1_Silent_p.V430V|HNRNPUL1_uc010ehp.2_Silent_p.V386V|HNRNPUL1_uc002oqf.3_5'Flank	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	530	Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation.				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			central_nervous_system(1)|skin(1)	2						AAGCTATTGTAATTTGTCCCA	0.453													G	41807512	A	G	41807512	2	3	172	1	0	0	0	0	0	0	0	1	7274	349	13	3		3	HNRNPUL1	19	41807512	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	799344	41807512	17321471	1675	94787											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41807560	41807560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgaacaataaagcgaacCgacgaggaagggaaggatgt	14	7	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41807560C>T	uc002oqb.3	+	11	1927	c.1638C>T	c.(1636-1638)ACC>ACT	p.T546T	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.T446T|HNRNPUL1_uc002oqa.3_Silent_p.T446T|HNRNPUL1_uc010ehm.2_Silent_p.T546T|HNRNPUL1_uc002oqc.3_Silent_p.T432T|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.T446T|HNRNPUL1_uc010ehn.2_Silent_p.T446T|HNRNPUL1_uc010eho.2_Silent_p.T446T|HNRNPUL1_uc010xvy.1_Silent_p.T446T|HNRNPUL1_uc010ehp.2_Silent_p.T402T|HNRNPUL1_uc002oqf.3_5'Flank	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	546	Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation.				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			central_nervous_system(1)|skin(1)	2						TAAAGCGAACCGACGAGGAAG	0.483													T	41807560	C	T	41807560	2	4	172	1	0	0	0	0	0	0	0	1	7274	639	23	1		1	HNRNPUL1	19	41807560	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	48	41807560	17321423	1676	94788											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41810111	41810111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caataagaacagcaacatccCtggctcaagcgccaatacca	6	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:41810111C>A	uc002oqb.3	+	13	2496	c.2207C>A	c.(2206-2208)CCT>CAT	p.P736H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.P636H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.P736H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.P622H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.P636H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.P636H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.P636H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.P592H|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.P260H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	736	Pro-rich.|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			central_nervous_system(1)|skin(1)	2						AGCAACATCCCTGGCTCAAGC	0.468													A	41810111	C	A	41810111	3	1	172	1	0	0	0	0	1	0	0	0	7274	681	24	5	2257	5	HNRNPUL1	19	41810111	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2551	41810111	17318872	1677	94789											
ZNF526	116115	broad.mit.edu	37	chr19	42730321	42730321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcgccatggcgggcttgcGactgcatcagcgggtccatg	15	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:42730321G>A	uc002osz.1	+	3	1922	c.1766G>A	c.(1765-1767)CGA>CAA	p.R589Q		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	589	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				GCGGGCTTGCGACTGCATCAG	0.642													A	42730321	G	A	42730321	3	1	172	1	0	0	0	0	1	0	0	0	17964	1058	37	1	1768	1	ZNF526	19	42730321	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	920210	42730321	16398662	1678	94790											
CIC	23152	broad.mit.edu	37	chr19	42793162	42793163	+	Frame_Shift_Ins	INS	-	-	C													gggacctggctcagcccggcINScccgagctttctcccacagc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:42793161_42793162G>GC	uc002otf.1	+	6	1093_1094	c.1053_1054G>GC	c.(1051-1056)cggcccfs	p.R351fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	351					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)				GCTCAGCCCGGCCCCGAGCTTT	0.649			"Mis, F, S"		oligodendroglioma								C	42793163	-	C	42793162	7	5	172	1	0	1	1	0	0	0	0	0	3424	739	26	0	1080	0	CIC	19	42793162	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	62841	42793162	16335821	1679	94791											
LIPE	3991	broad.mit.edu	37	chr19	42910420	42910420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcattgtggccgggTaggctgccatgatgccatct	14	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:42910420T>C	uc002otr.2	-	7	2535	c.2258A>G	c.(2257-2259)TAC>TGC	p.Y753C	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	753					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TGTGGCCGGGTAGGCTGCCAT	0.672													C	42910420	T	C	42910420	3	2	172	1	0	0	0	0	1	0	0	0	8821	1638	57	3	988	3	LIPE	19	42910420	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	117258	42910420	16218563	1680	94792											
PSG11	5680	broad.mit.edu	37	chr19	43519329	43519329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgagttacgagcagaGcaagcatagagcccattatg	13	8	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:43519329G>A	uc002ovm.1	-	4	1010	c.903C>T	c.(901-903)TGC>TGT	p.C301C	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Silent_p.C307C|PSG11_uc002ovo.1_Silent_p.C179C|PSG11_uc002ovp.1_Silent_p.C179C	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	301	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TACGAGCAGAGCAAGCATAGA	0.458													A	43519329	G	A	43519329	2	1	172	1	0	0	0	0	0	0	0	1	12654	963	34	2		2	PSG11	19	43519329	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	608909	43519329	15609654	1681	94793											
ZNF226	7769	broad.mit.edu	37	chr19	44681086	44681086	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccacagtatagagaaAccttttaagtgtgaggagtg	12	6	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:44681086A>G	uc002oyp.2	+	6	1815	c.1671A>G	c.(1669-1671)AAA>AAG	p.K557K	ZNF226_uc002oyq.2_Silent_p.K440K|ZNF226_uc002oyr.2_Silent_p.K440K|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.K557K|ZNF226_uc002oyt.2_Silent_p.K557K	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				GTATAGAGAAACCTTTTAAGT	0.448													G	44681086	A	G	44681086	2	3	172	1	0	0	0	0	0	0	0	1	17777	40	2	3		3	ZNF226	19	44681086	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	1161757	44681086	14447897	1682	94794											
CEACAM20	125931	broad.mit.edu	37	chr19	45017279	45017279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagttctgaggccacaGcaatgacagccaggatcccg	11	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45017279G>A	uc010ejn.1	-	7	1395	c.1379C>T	c.(1378-1380)GCT>GTT	p.A460V	CEACAM20_uc010ejo.1_Missense_Mutation_p.A460V|CEACAM20_uc010ejp.1_Missense_Mutation_p.A367V|CEACAM20_uc010ejq.1_Missense_Mutation_p.A367V	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	460	Helical; (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				TGAGGCCACAGCAATGACAGC	0.582											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45017279	G	A	45017279	3	1	172	1	0	0	0	0	1	0	0	0	3191	971	34	2	436	2	CEACAM20	19	45017279	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	336193	45017279	14111704	1683	94795											
BCAM	4059	broad.mit.edu	37	chr19	45315630	45315630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcactgctgaggccactGcgcggctcaacgtgtttggt	14	12	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45315630G>A	uc002ozu.2	+	3	459	c.415G>A	c.(415-417)GCG>ACG	p.A139T	BCAM_uc002ozt.1_Missense_Mutation_p.A139T	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	139	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGAGGCCACTGCGCGGCTCAA	0.687													A	45315630	G	A	45315630	3	1	172	1	0	0	0	0	1	0	0	0	1344	1319	46	2	425	2	BCAM	19	45315630	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	298351	45315630	13813353	1684	94796											
RELB	5971	broad.mit.edu	37	chr19	45515357	45515357	+	Frame_Shift_Del	DEL	C	C	-													acgccgccgccttggggctgCcccctgggccgactagtgtc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45515357delC	uc002paj.1	+	5	453	c.327delC	c.(325-327)TGCfs	p.C109fs		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	109						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTTGGGGCTGCCCCCTGGGCC	0.766													-	45515357	C	-	45515357	7	5	172	1	0	1	0	1	0	0	0	0	13217	747	26	0	333	0	RELB	19	45515357	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	199727	45515357	13613626	1685	94797											
MARK4	57787	broad.mit.edu	37	chr19	45805630	45805630	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacatcttctcgcctcAgttgccatctaccttgggat	7	15	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45805630A>G	uc002pbb.1	+	17	1928	c.1923_splice	c.e17-2	p.S641_splice	MARK4_uc002pba.1_Splice_Site_p.V668_splice			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;						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			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCTCGCCTCAGTTGCCATCT	0.562													G	45805630	A	G	45805630	5	3	172	1	0	0	0	0	0	0	1	0	9315	202	7	3	2071	3	MARK4	19	45805630	Splice_Site	SNP	A	TCGA-CG-4442-01A-01D-1158-08	290273	45805630	13323353	1686	94798											
PPP1R13L	10848	broad.mit.edu	37	chr19	45901297	45901297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgcgggccaggaggcGcgggagagtctgaccacagc	18	13	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45901297G>A	uc002pbn.2	-	3	241	c.164C>T	c.(163-165)GCG>GTG	p.A55V	PPP1R13L_uc002pbo.2_Missense_Mutation_p.A55V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A55V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	55	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCAGGAGGCGCGGGAGAGTC	0.622													A	45901297	G	A	45901297	3	1	172	1	0	0	0	0	1	0	0	0	12358	1087	38	1	2366	1	PPP1R13L	19	45901297	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	95667	45901297	13227686	1687	94799											
CD3EAP	10849	broad.mit.edu	37	chr19	45911523	45911523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgctggccccctcaacGgaggcaggaggtggactcac	13	15	2	0	rs140241488		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:45911523G>A	uc002pbq.1	+	3	785	c.297G>A	c.(295-297)ACG>ACA	p.T99T	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Silent_p.T101T	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	99					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCCCCTCAACGGAGGCAGGAG	0.647													A	45911523	G	A	45911523	2	1	172	1	0	0	0	0	0	0	0	1	3012	1103	39	1		1	CD3EAP	19	45911523	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	10226	45911523	13217460	1688	94800											
FBXO46	23403	broad.mit.edu	37	chr19	46216274	46216274	+	Frame_Shift_Del	DEL	G	G	-													acgtcctcaccggctgaggcGgggccctcctcagcagcagg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:46216274delG	uc002pcy.2	-	2	605	c.480delC	c.(478-480)CCCfs	p.P160fs	FBXO46_uc002pcz.2_Frame_Shift_Del_p.P160fs	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	160							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		CGGCTGAGGCGGGGCCCTCCT	0.706													-	46216274	G	-	46216274	7	5	172	1	0	1	0	1	0	0	0	0	5755	1103	39	0	1335	0	FBXO46	19	46216274	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	304751	46216274	12912709	1689	94801											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388666	46388666	+	Frame_Shift_Del	DEL	G	G	-													ctccagggcgggcgagggcaGggggaggcggcctgatgatg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:46388666delG	uc002pds.1	-	1	711	c.367delC	c.(367-369)CTGfs	p.L123fs		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		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)		GGCGAGGGCAGGGGGAGGCGG	0.751													-	46388666	G	-	46388666	7	5	172	1	0	1	0	1	0	0	0	0	7829	991	35	0	1391	0	IRF2BP1	19	46388666	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	172392	46388666	12740317	1690	94802											
NANOS2	339345	broad.mit.edu	37	chr19	46417728	46417728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagctggtgtgaggagtagAcgtggcgggactccccgttg	17	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:46417728A>G	uc002pdu.2	-	1	309	c.224T>C	c.(223-225)GTC>GCC	p.V75A		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	75	Nanos-type.|C2HC 1.				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		TGAGGAGTAGACGTGGCGGGA	0.687													G	46417728	A	G	46417728	3	3	172	1	0	0	0	0	1	0	0	0	10152	275	10	3	196	3	NANOS2	19	46417728	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	29062	46417728	12711255	1691	94803											
DHX34	9704	broad.mit.edu	37	chr19	47884088	47884088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagattccttacagcctcCggcggctcacagggctagaa	10	13	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:47884088C>T	uc010xyn.1	+	15	3339	c.2998C>T	c.(2998-3000)CGG>TGG	p.R1000W	DHX34_uc010xyo.1_Missense_Mutation_p.R129W	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1000						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TTACAGCCTCCGGCGGCTCAC	0.353													T	47884088	C	T	47884088	3	4	172	1	0	0	0	0	1	0	0	0	4507	643	23	1	3052	1	DHX34	19	47884088	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1466360	47884088	11244895	1692	94804											
CABP5	56344	broad.mit.edu	37	chr19	48537535	48537535	+	Frame_Shift_Del	DEL	G	G	-													gacaacctcagagatctcccGgggggtgagccgctccccca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:48537535delG	uc002phu.1	-	5	558	c.433delC	c.(433-435)CGGfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	145	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			skin(1)	1		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)		GAGATCTCCCGGGGGGTGAGC	0.592													-	48537535	G	-	48537535	7	5	172	1	0	1	0	1	0	0	0	0	2534	1115	39	0	96	0	CABP5	19	48537535	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	653447	48537535	10591448	1693	94805											
FAM83E	54854	broad.mit.edu	37	chr19	49106851	49106851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgctgggggtccgggcgCgctgcacactccttagaatg	16	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49106851C>T	uc002pjn.2	-	4	1141	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	359										ovary(1)	1		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)		ggtccgggcgcgcTGCACACT	0.567													T	49106851	C	T	49106851	3	4	172	1	0	0	0	0	1	0	0	0	5637	768	27	1	368	1	FAM83E	19	49106851	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	569316	49106851	10022132	1694	94806											
FAM83E	54854	broad.mit.edu	37	chr19	49116511	49116511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacgcctccgcgcccttgCtcaacagagcctccagtgcc	10	18	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49116511C>T	uc002pjn.2	-	1	184	c.119G>A	c.(118-120)AGC>AAC	p.S40N		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	40										ovary(1)	1		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)		CGCGCCCTTGCTCAACAGAGC	0.682													T	49116511	C	T	49116511	3	4	172	1	0	0	0	0	1	0	0	0	5637	797	28	2	1337	2	FAM83E	19	49116511	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	9660	49116511	10012472	1695	94807											
SPHK2	56848	broad.mit.edu	37	chr19	49131529	49131530	+	Frame_Shift_Ins	INS	-	-	G													ccggagcagtgaaccagcacINSggggggtaggttgaggatac					rs142182513	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49131529_49131530insG	uc002pjr.2	+	6	1233_1234	c.867_868insG	c.(865-870)CACGGGfs	p.H289fs	SPHK2_uc010xzt.1_Frame_Shift_Ins_p.H230fs|SPHK2_uc002pjs.2_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pjt.2_Frame_Shift_Ins_p.H83fs|SPHK2_uc002pju.2_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjv.2_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjw.2_Frame_Shift_Ins_p.H351fs|SPHK2_uc010xzu.1_Frame_Shift_Ins_p.H253fs	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	289_290	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			lung(1)	1		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)		TGAACCAGCACGGGGGGTAGGT	0.624													G	49131530	-	G	49131529	7	5	172	1	0	1	1	0	0	0	0	0	15046	535	19	0	885	0	SPHK2	19	49131529	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	15018	49131529	9997454	1696	94808	470	2									
SPHK2	56848	broad.mit.edu	37	chr19	49131530	49131531	+	Frame_Shift_Ins	INS	-	-	G													cggagcagtgaaccagcacgINSgggggtaggttgaggatacc					rs142182513	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:49131529_49131530C>CG	uc002pjw.3	+	3	1750_1751	c.1053_1054C>CG	c.(1051-1056)cacgggfs	p.H351fs	SPHK2_uc010xzt.2_Frame_Shift_Ins_p.H230fs|SPHK2_uc002pjt.3_Frame_Shift_Ins_p.H83fs|SPHK2_uc002pjr.3_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pjs.3_Frame_Shift_Ins_p.H289fs|SPHK2_uc002pju.3_Frame_Shift_Ins_p.H253fs|SPHK2_uc002pjv.3_Frame_Shift_Ins_p.H253fs|SPHK2_uc010xzu.1_Frame_Shift_Ins_p.H253fs	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	289					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|Ras GTPase binding|diacylglycerol kinase activity|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)		TGAACCAGCACGGGGGGTAGGT	0.624													G	49131531	-	G	49131530	7	5	172	1	0	1	1	0	0	0	0	0	15046	1116	39	0	886	0	SPHK2	19	49131530	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	49131530	9997453	1697	94809	470	2									
NOSIP	51070	broad.mit.edu	37	chr19	50059938	50059938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgtgaagtgcacgggcGtcaggtccgacatgcgcagg	18	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50059938G>A	uc002pok.2	-	8	745	c.593C>T	c.(592-594)ACG>ATG	p.T198M	NOSIP_uc002pol.2_Missense_Mutation_p.T198M	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	198					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GTGCACGGGCGTCAGGTCCGA	0.692													A	50059938	G	A	50059938	3	1	172	1	0	0	0	0	1	0	0	0	10545	1145	40	1	324	1	NOSIP	19	50059938	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	928408	50059938	9069045	1698	94810											
CPT1C	126129	broad.mit.edu	37	chr19	50208489	50208489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactttgctgatgggaatgCgccccttatgctctgcccag	11	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50208489C>T	uc002ppj.2	+	9	1103	c.898C>T	c.(898-900)CGC>TGC	p.R300C	CPT1C_uc002ppl.3_Missense_Mutation_p.R266C|CPT1C_uc002ppi.2_Missense_Mutation_p.R217C|CPT1C_uc002ppk.2_Missense_Mutation_p.R289C|CPT1C_uc010eng.2_Missense_Mutation_p.R300C|CPT1C_uc010enh.2_Missense_Mutation_p.R300C|CPT1C_uc010ybc.1_Missense_Mutation_p.R171C|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	300	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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	0.582													T	50208489	C	T	50208489	3	4	172	1	0	0	0	0	1	0	0	0	3833	768	27	1	928	1	CPT1C	19	50208489	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	148551	50208489	8920494	1699	94811											
PTOV1	53635	broad.mit.edu	37	chr19	50360333	50360333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgggcctcatcccctaCgaccagagcggcttcgtcag	10	15	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50360333C>T	uc002pqf.1	+	6	830	c.660C>T	c.(658-660)TAC>TAT	p.Y220Y	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.Y188Y|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		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;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCATCCCCTACGACCAGAGCG	0.617													T	50360333	C	T	50360333	2	4	172	1	0	0	0	0	0	0	0	1	12769	547	19	1		1	PTOV1	19	50360333	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	151844	50360333	8768650	1700	94812											
ZNF473	25888	broad.mit.edu	37	chr19	50549260	50549260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatatgaatgtcaggagtgCggagaacgcttcatttgcgg	13	8	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:50549260C>T	uc002prn.2	+	5	1797	c.1560C>T	c.(1558-1560)TGC>TGT	p.C520C	ZNF473_uc002prm.2_Silent_p.C520C|ZNF473_uc010ybo.1_Silent_p.C508C	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	520	C2H2-type 10.|Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTCAGGAGTGCGGAGAACGCT	0.468													T	50549260	C	T	50549260	2	4	172	1	0	0	0	0	0	0	0	1	17928	776	27	1		1	ZNF473	19	50549260	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	188927	50549260	8579723	1701	94813											
SHANK1	50944	broad.mit.edu	37	chr19	51220008	51220008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacattgagcggccctggaGgcctctaacagaggccaggc	15	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:51220008G>T	uc002psx.1	-	1	188	c.169C>A	c.(169-171)CTC>ATC	p.L57I		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	57					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGCCCTGGAGGCCTCTAACA	0.672													T	51220008	G	T	51220008	3	4	172	1	0	0	0	0	1	0	0	0	14264	1000	35	5	6408	5	SHANK1	19	51220008	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	670748	51220008	7908975	1702	94814											
CD33	945	broad.mit.edu	37	chr19	51728620	51728620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttcatggttactggttcCgggaaggagccattatatcc	11	9	1	0	rs138300409	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:51728620C>T	uc002pwa.2	+	2	224	c.184C>T	c.(184-186)CGG>TGG	p.R62W	CD33_uc010eos.1_Missense_Mutation_p.R62W|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	62	Extracellular (Potential).|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				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTACTGGTTCCGGGAAGGAGC	0.537													T	51728620	C	T	51728620	3	4	172	1	0	0	0	0	1	0	0	0	3005	643	23	1	190	1	CD33	19	51728620	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	508612	51728620	7400363	1703	94815											
ZNF836	162962	broad.mit.edu	37	chr19	52660326	52660326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcaagttgggtgggtaAtgacagctgcaaaaactcat	10	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:52660326A>G	uc010ydi.1	-	5	984	c.610T>C	c.(610-612)TTA>CTA	p.L204L	ZNF836_uc010ydj.1_Silent_p.L204L	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGGTGGGTAATGACAGCTGC	0.363													G	52660326	A	G	52660326	2	3	172	1	0	0	0	0	0	0	0	1	18184	98	4	3		3	ZNF836	19	52660326	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	931706	52660326	6468657	1704	94816											
ZNF83	55769	broad.mit.edu	37	chr19	53117526	53117526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgaaaggccttgccacGctcactacatttgtagtgtt	9	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:53117526G>A	uc002pzu.3	-	2	1536	c.292C>T	c.(292-294)CGT>TGT	p.R98C	ZNF83_uc002pzv.3_Missense_Mutation_p.R98C|ZNF83_uc010eps.2_Missense_Mutation_p.R98C|ZNF83_uc010ept.2_Missense_Mutation_p.R98C|ZNF83_uc010epu.2_Missense_Mutation_p.R98C|ZNF83_uc010epv.2_Missense_Mutation_p.R98C|ZNF83_uc010epw.2_Missense_Mutation_p.R98C|ZNF83_uc010epx.2_Missense_Mutation_p.R98C|ZNF83_uc010epy.2_Missense_Mutation_p.R98C|ZNF83_uc010epz.2_Missense_Mutation_p.R98C|ZNF83_uc010eqb.1_Missense_Mutation_p.R98C	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	98	C2H2-type 1; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GCCTTGCCACGCTCACTACAT	0.333													A	53117526	G	A	53117526	3	1	172	1	0	0	0	0	1	0	0	0	18180	1087	38	1	1262	1	ZNF83	19	53117526	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	457200	53117526	6011457	1705	94817											
ZNF28	7576	broad.mit.edu	37	chr19	53304670	53304670	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggcagatgcgaatgaaagCttaatccaagctgatcttta	9	8	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:53304670C>G	uc002qad.2	-	4	548	c.428G>C	c.(427-429)AGC>ACC	p.S143T	ZNF28_uc002qac.2_Missense_Mutation_p.S90T|ZNF28_uc010eqe.2_Missense_Mutation_p.S89T	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CGAATGAAAGCTTAATCCAAG	0.413													G	53304670	C	G	53304670	3	3	172	1	0	0	0	0	1	0	0	0	17810	797	28	5	1732	5	ZNF28	19	53304670	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	187144	53304670	5824313	1706	94818											
ZNF160	90338	broad.mit.edu	37	chr19	53589549	53589549	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctgactccttttctttcCtcttcctcttcttccagact	2	17	4	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:53589549C>A	uc010eqk.2	-	4	397	c.-19G>T	c.(-21--17)GAGGA>GATGA		ZNF160_uc002qaq.3_Translation_Start_Site|ZNF160_uc002qar.3_Translation_Start_Site|ZNF160_uc002qas.3_Translation_Start_Site	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160						hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		CTTTTCTTTCCTCTTCCTCTT	0.413													A	53589549	C	A	53589549	1	1	172	1	0	0	0	0	0	0	0	0	17736	696	24	5		5	ZNF160	19	53589549	Translation_Start_Site	SNP	C	TCGA-CG-4442-01A-01D-1158-08	284879	53589549	5539434	1707	94819											
LILRA3	11026	broad.mit.edu	37	chr19	54802622	54802622	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggagagcccagcctgGggctgccggccagggcgctg	19	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:54802622G>T	uc002qfd.2	-	5	884	c.819C>A	c.(817-819)CCC>CCA	p.P273P	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.P209P	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	273	Ig-like C2-type 3.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCAGCCTGGGGCTGCCGGC	0.627													T	54802622	G	T	54802622	2	4	172	1	0	0	0	0	0	0	0	1	8786	1219	43	5		5	LILRA3	19	54802622	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1213073	54802622	4326361	1708	94820											
LILRA3	11026	broad.mit.edu	37	chr19	54802639	54802639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgccggccagggcGctggaggaagtcacgtcccc	17	14	1	0	rs143103718	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:54802639G>A	uc002qfd.2	-	5	867	c.802C>T	c.(802-804)CGC>TGC	p.R268C	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.R204C	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	268	Ig-like C2-type 3.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGCCAGGGCGCTGGAGGAAG	0.642													A	54802639	G	A	54802639	3	1	172	1	0	0	0	0	1	0	0	0	8786	1087	38	1	529	1	LILRA3	19	54802639	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	17	54802639	4326344	1709	94821											
LENG9	94059	broad.mit.edu	37	chr19	54974255	54974255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtgggcccgcgtcccGccgccgagccagagccaaag	16	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:54974255G>A	uc010yez.1	-	1	640	c.521C>T	c.(520-522)GCG>GTG	p.A174V		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	174					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCGCGTCCCGCCGCCGAGCC	0.726													A	54974255	G	A	54974255	3	1	172	1	0	0	0	0	1	0	0	0	8725	1087	38	1	988	1	LENG9	19	54974255	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	171616	54974255	4154728	1710	94822											
TMEM86B	255043	broad.mit.edu	37	chr19	55738739	55738739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgccctgggccaggccgCgccacagcatggccatcagg	13	18	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:55738739C>T	uc002qju.2	-	3	1014	c.491G>A	c.(490-492)CGC>CAC	p.R164H	TMEM86B_uc002qjt.2_Missense_Mutation_p.R163H	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	transmembrane protein 86B	164	Helical; (Potential).				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GGCCAGGCCGCGCCACAGCAT	0.701													T	55738739	C	T	55738739	3	4	172	1	0	0	0	0	1	0	0	0	16206	768	27	1	193	1	TMEM86B	19	55738739	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	764484	55738739	3390244	1711	94823											
ZNF71	58491	broad.mit.edu	37	chr19	57132978	57132978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccacccgtaaggcgtgGcaagaacttctccagcactt	9	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57132978G>A	uc002qnm.3	+	3	561	c.323G>A	c.(322-324)GGC>GAC	p.G108D		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	108						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTAAGGCGTGGCAAGAACTTC	0.582													A	57132978	G	A	57132978	3	1	172	1	0	0	0	0	1	0	0	0	18111	1203	42	2	325	2	ZNF71	19	57132978	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1394239	57132978	1996005	1712	94824											
ZIM3	114026	broad.mit.edu	37	chr19	57647283	57647283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgtgagaattattttgtAcatagtgttgcaaggaagat	10	4	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57647283A>G	uc002qnz.1	-	5	808	c.422T>C	c.(421-423)GTA>GCA	p.V141A		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		ATTATTTTGTACATAGTGTTG	0.363													G	57647283	A	G	57647283	3	3	172	1	0	0	0	0	1	0	0	0	17682	391	14	3	1000	3	ZIM3	19	57647283	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	514305	57647283	1481700	1713	94825											
ZNF264	9422	broad.mit.edu	37	chr19	57724155	57724155	+	Frame_Shift_Del	DEL	A	A	-													atcaaaggatgcatactgggAaaaatcccatcagtgtaaca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57724155delA	uc002qob.2	+	4	2103	c.1690delA	c.(1690-1692)AAAfs	p.K564fs		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		GCATACTGGGAAAAATCCCAT	0.443													-	57724155	A	-	57724155	7	5	172	1	0	1	0	1	0	0	0	0	17801	247	9	0	1704	0	ZNF264	19	57724155	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	76872	57724155	1404828	1714	94826											
ZNF543	125919	broad.mit.edu	37	chr19	57840578	57840578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttcagtcaacatccaggAacttttattagggaaagagt	9	7	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:57840578A>G	uc002qoi.1	+	4	2093	c.1748A>G	c.(1747-1749)GAA>GGA	p.E583G		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		AACATCCAGGAACTTTTATTA	0.403													G	57840578	A	G	57840578	3	3	172	1	0	0	0	0	1	0	0	0	17973	246	9	3	1762	3	ZNF543	19	57840578	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	116423	57840578	1288405	1715	94827											
ZNF419	79744	broad.mit.edu	37	chr19	58005213	58005213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaagccttatgagtgcAgggaatgtgggaaatttttt	13	4	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58005213A>G	uc002qov.2	+	5	1528	c.1288A>G	c.(1288-1290)AGG>GGG	p.R430G	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.R431G|ZNF419_uc010etz.1_Missense_Mutation_p.R418G|ZNF419_uc010eua.1_Missense_Mutation_p.R417G|ZNF419_uc002qow.2_Missense_Mutation_p.R398G|ZNF419_uc010eub.1_Missense_Mutation_p.R385G|ZNF419_uc010euc.1_Missense_Mutation_p.R384G	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	430	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TTATGAGTGCAGGGAATGTGG	0.413													G	58005213	A	G	58005213	3	3	172	1	0	0	0	0	1	0	0	0	17893	179	7	3	1309	3	ZNF419	19	58005213	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	164635	58005213	1123770	1716	94828											
ZNF773	374928	broad.mit.edu	37	chr19	58018753	58018753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgccacagctccagtctTgttaaacatcgaaggattca	7	11	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58018753T>C	uc002qox.2	+	4	1430	c.1290T>C	c.(1288-1290)CTT>CTC	p.L430L	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.L429L|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	430	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(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;0.0254)		GCTCCAGTCTTGTTAAACATC	0.423													C	58018753	T	C	58018753	2	2	172	1	0	0	0	0	0	0	0	1	18143	1799	63	3		3	ZNF773	19	58018753	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	13540	58018753	1110230	1717	94829											
ZNF135	7694	broad.mit.edu	37	chr19	58573064	58573064	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaccttcaggcttctGgtctctgtgggtaaggccac	12	12	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58573064G>T	uc010yhq.1	+	3	246	c.150G>T	c.(148-150)CTG>CTT	p.L50L	ZNF135_uc002qre.2_Silent_p.L50L|ZNF135_uc002qrd.1_Silent_p.L8L|ZNF135_uc002qrf.2_Silent_p.L8L|ZNF135_uc002qrg.2_Silent_p.L8L|ZNF135_uc010yhr.1_Intron	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	50					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		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)		TCAGGCTTCTGGTCTCTGTGG	0.522													T	58573064	G	T	58573064	2	4	172	1	0	0	0	0	0	0	0	1	17722	1335	47	5		5	ZNF135	19	58573064	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	554311	58573064	555919	1718	94830											
ZNF497	162968	broad.mit.edu	37	chr19	58867759	58867759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccgcattctgcgcaggCgaagggtcgctctcccgtgt	13	14	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58867759C>T	uc002qsh.1	-	3	1432	c.1243G>A	c.(1243-1245)GCC>ACC	p.A415T	A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A415T|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	415	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		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)		TCTGCGCAGGCGAAGGGTCGC	0.721													T	58867759	C	T	58867759	3	4	172	1	0	0	0	0	1	0	0	0	17943	768	27	1	257	1	ZNF497	19	58867759	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	294695	58867759	261224	1719	94831											
ZNF446	55663	broad.mit.edu	37	chr19	58991071	58991071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgcgatgctggagaAgtacggcacagtggtctccc	15	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr19:58991071A>C	uc002qsz.2	+	5	806	c.689A>C	c.(688-690)AAG>ACG	p.K230T	ZNF446_uc002qta.2_Intron|ZNF446_uc010eur.2_Missense_Mutation_p.K230T|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	230	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		ATGCTGGAGAAGTACGGCACA	0.667													C	58991071	A	C	58991071	3	2	172	1	0	0	0	0	1	0	0	0	17916	72	3	5	703	5	ZNF446	19	58991071	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	123312	58991071	137912	1720	94832											
TGM3	7053	broad.mit.edu	37	chr20	2312896	2312896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggaccatcatctacaacGgcacgcttgtacatgaagtg	9	12	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:2312896G>T	uc002wfx.3	+	10	1679	c.1582G>T	c.(1582-1584)GGC>TGC	p.G528C		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	528					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			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CATCTACAACGGCACGCTTGT	0.522													T	2312896	G	T	2312896	3	4	172	1	0	0	0	0	1	0	0	0	15828	1116	39	5	1620	5	TGM3	20	2312896	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08		2312896	60712624	1721	94833											
OXT	5020	broad.mit.edu	37	chr20	3052728	3052728	+	Frame_Shift_Del	DEL	C	C	-													cgcccgtccccgcagtgcctCccctgcggccccgggggcaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:3052728delC	uc002wht.1	+	2	162	c.126delC	c.(124-126)CTCfs	p.L42fs		NM_000915	NP_000906	P01178	NEU1_HUMAN	oxytocin-neurophysin I preproprotein	42					signal transduction		neurohypophyseal hormone activity				0					Oxytocin(DB00107)	CGCAGTGCCTCCCCTGCGGCC	0.766													-	3052728	C	-	3052728	7	5	172	1	0	1	0	1	0	0	0	0	11337	842	30	0	132	0	OXT	20	3052728	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	739832	3052728	59972792	1722	94834											
SIGLEC1	6614	broad.mit.edu	37	chr20	3672650	3672650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacatcttgcacctgcagCcgtagggcgtttcgggccac	13	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:3672650C>T	uc002wja.2	-	16	4230	c.4230G>A	c.(4228-4230)CGG>CGA	p.R1410R	SIGLEC1_uc002wjb.1_Silent_p.R49R|SIGLEC1_uc002wiz.3_Silent_p.R1410R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1410	Ig-like C2-type 14.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GCACCTGCAGCCGTAGGGCGT	0.597													T	3672650	C	T	3672650	2	4	172	1	0	0	0	0	0	0	0	1	14305	726	26	2		2	SIGLEC1	20	3672650	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	619922	3672650	59352870	1723	94835											
SIGLEC1	6614	broad.mit.edu	37	chr20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-													ctgaagatgtggaggctgatGgggggtgagaccaaagagcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:3684490_3684490TG>T	uc002wja.3	-	3	955	c.955_955CA>A	c.(955-957)atcfs	p.I319fs	SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.I319fs|SIGLEC1_uc002wjc.3_Frame_Shift_Del_p.I230fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	319	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)|p.P318P(1)		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						TGGAGGCTGATGGGGGGTGAG	0.617													-	3684491	G	-	3684491	7	5	172	1	0	1	0	1	0	0	0	0	14305	1335	47	0	4247	0	SIGLEC1	20	3684491	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	11841	3684491	59341029	1724	94836											
PLCB1	23236	broad.mit.edu	37	chr20	8703048	8703048	+	Frame_Shift_Del	DEL	A	A	-													acgatgatgatgatgactgtAaaaaatcttcaatggatgag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:8703048delA	uc002wnb.2	+	15	1564	c.1561delA	c.(1561-1563)AAAfs	p.K521fs	PLCB1_uc010zrb.1_Frame_Shift_Del_p.K420fs|PLCB1_uc002wna.2_Frame_Shift_Del_p.K521fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K420fs|PLCB1_uc002wnd.1_Frame_Shift_Del_p.K98fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	521					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGATGACTGTAAAAAATCTTC	0.433													-	8703048	A	-	8703048	7	5	172	1	0	1	0	1	0	0	0	0	12027	363	13	0	1619	0	PLCB1	20	8703048	Frame_Shift_Del	DEL	A	TCGA-CG-4442-01A-01D-1158-08	5018557	8703048	54322472	1725	94837											
FLRT3	23767	broad.mit.edu	37	chr20	14306292	14306292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgattgtttttgtacagatTcattccattaggaggaaata	9	4	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:14306292T>C	uc002wov.1	-	3	2328	c.1861A>G	c.(1861-1863)AAT>GAT	p.N621D	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.N621D	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	621	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTGTACAGATTCATTCCATTA	0.408													C	14306292	T	C	14306292	3	2	172	1	0	0	0	0	1	0	0	0	5940	1783	62	3	92	3	FLRT3	20	14306292	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5603244	14306292	48719228	1726	94838											
KIF16B	55614	broad.mit.edu	37	chr20	16359766	16359766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctggtttgcattggCctggtactgtgcaagctgtt	13	8	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:16359766C>T	uc002wpg.1	-	19	3039	c.2881G>A	c.(2881-2883)GCC>ACC	p.A961T	KIF16B_uc002wpe.1_Missense_Mutation_p.A343T|KIF16B_uc002wpf.1_Missense_Mutation_p.A343T|KIF16B_uc010gch.1_Missense_Mutation_p.A961T|KIF16B_uc010gci.1_Missense_Mutation_p.A961T|KIF16B_uc010gcj.1_Missense_Mutation_p.A972T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	961	Glu-rich.|Potential.				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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TTTGCATTGGCCTGGTACTGT	0.418													T	16359766	C	T	16359766	3	4	172	1	0	0	0	0	1	0	0	0	8278	739	26	2	1104	2	KIF16B	20	16359766	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2053474	16359766	46665754	1727	94839											
CSRP2BP	57325	broad.mit.edu	37	chr20	18123412	18123412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaagtggagggagagacGctcctgatcgtcgaatccga	16	8	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:18123412G>A	uc002wqj.2	+	2	730	c.108G>A	c.(106-108)ACG>ACA	p.T36T	CSRP2BP_uc002wqk.2_5'Flank	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	36					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						AGGGAGAGACGCTCCTGATCG	0.542													A	18123412	G	A	18123412	2	1	172	1	0	0	0	0	0	0	0	1	3968	1074	38	1		1	CSRP2BP	20	18123412	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1763646	18123412	44902108	1728	94840											
C20orf26	26074	broad.mit.edu	37	chr20	20180465	20180465	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcattacttggttccCgtgcgaccacgacgacagat	9	14	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:20180465C>A	uc002wru.2	+	17	1927	c.1851C>A	c.(1849-1851)CCC>CCA	p.P617P	C20orf26_uc010zse.1_Silent_p.P597P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	617										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		ACTTGGTTCCCGTGCGACCAC	0.532													A	20180465	C	A	20180465	2	1	172	1	0	0	0	0	0	0	0	1	2106	639	23	5		5	C20orf26	20	20180465	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2057053	20180465	42845055	1729	94841											
PAX1	5075	broad.mit.edu	37	chr20	21687475	21687475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaagatcggcagcctggCgcagcccggaccgtacgagg	14	14	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:21687475C>T	uc002wsj.2	+	2	740	c.686C>T	c.(685-687)GCG>GTG	p.A229V	PAX1_uc010zsl.1_Missense_Mutation_p.A229V|PAX1_uc010zsm.1_Missense_Mutation_p.A205V	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	229					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GGCAGCCTGGCGCAGCCCGGA	0.647													T	21687475	C	T	21687475	3	4	172	1	0	0	0	0	1	0	0	0	11478	768	27	1	692	1	PAX1	20	21687475	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1507010	21687475	41338045	1730	94842											
GZF1	64412	broad.mit.edu	37	chr20	23345195	23345195	+	Frame_Shift_Del	DEL	T	T	-													tgctggctgccaccagcaagTtttttaaggaagtgttcctt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:23345195delT	uc010gdb.2	+	3	349	c.175delT	c.(175-177)TTTfs	p.F59fs	GZF1_uc002wsy.2_Frame_Shift_Del_p.F59fs|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Frame_Shift_Del_p.F59fs	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	59	BTB.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACCAGCAAGTTTTTTAAGGA	0.483													-	23345195	T	-	23345195	7	5	172	1	0	1	0	1	0	0	0	0	6914	1725	60	0	177	0	GZF1	20	23345195	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	1657720	23345195	39680325	1731	94843											
NINL	22981	broad.mit.edu	37	chr20	25456684	25456684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtagaaggcaaacctgtcGttctctctcaaatctacatg	8	10	3	1	rs144098143	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:25456684G>A	uc002wux.1	-	17	3317	c.3243C>T	c.(3241-3243)AAC>AAT	p.N1081N	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1081	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CAAACCTGTCGTTCTCTCTCA	0.443													A	25456684	G	A	25456684	2	1	172	1	0	0	0	0	0	0	0	1	10420	1136	40	1		1	NINL	20	25456684	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2111489	25456684	37568836	1732	94844											
ASXL1	171023	broad.mit.edu	37	chr20	31017181	31017182	+	Frame_Shift_Del	DEL	GA	GA	-													gactggggtgatgctgcctcGagttgtcctgactcctctga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:31017181_31017182delGA	uc002wxs.2	+	6	938_939	c.512_513delGA	c.(511-513)CGAfs	p.R171fs	ASXL1_uc010geb.2_Frame_Shift_Del_p.R113fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	171					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						ATGCTGCCTCGAGTTGTCCTGA	0.495			F|N|Mis		MDS|CMML								-	31017182	GA	-	31017181	7	5	172	1	0	1	0	1	0	0	0	0	1066	1058	37	0	544	0	ASXL1	20	31017181	Frame_Shift_Del	DEL	GA	TCGA-CG-4442-01A-01D-1158-08	5560497	31017181	32008339	1733	94845											
DNMT3B	1789	broad.mit.edu	37	chr20	31387087	31387087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgccattcccgcagcccGaaggcggcccattcgagtcc	10	19	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:31387087G>A	uc002wyc.2	+	16	2033	c.1712G>A	c.(1711-1713)CGA>CAA	p.R571Q	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R551Q|DNMT3B_uc002wye.2_Missense_Mutation_p.R551Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R509Q|DNMT3B_uc010zua.1_Missense_Mutation_p.R475Q|DNMT3B_uc002wyf.2_Missense_Mutation_p.R563Q|DNMT3B_uc002wyg.2_Missense_Mutation_p.R270Q|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	571					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			lung(3)|ovary(2)	5						CCCGCAGCCCGAAGGCGGCCC	0.587													A	31387087	G	A	31387087	3	1	172	1	0	0	0	0	1	0	0	0	4677	1058	37	1	1810	1	DNMT3B	20	31387087	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	369906	31387087	31638433	1734	94846											
MAPRE1	22919	broad.mit.edu	37	chr20	31427577	31427577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacacagagaaccgctgCggctcctaaggctggccctg	11	15	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:31427577C>T	uc002wyh.2	+	5	651	c.512C>T	c.(511-513)GCG>GTG	p.A171V		NM_012325	NP_036457	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family,	171	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding				0						AGAACCGCTGCGGCTCCTAAG	0.552													T	31427577	C	T	31427577	3	4	172	1	0	0	0	0	1	0	0	0	9294	768	27	1	526	1	MAPRE1	20	31427577	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	40490	31427577	31597943	1735	94847											
AHCY	191	broad.mit.edu	37	chr20	32878616	32878616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaaccccgcagggcctgGgcacagcccttgcccacatc	10	19	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:32878616G>A	uc002xai.2	-	6	826	c.687C>T	c.(685-687)GCC>GCT	p.A229A	AHCY_uc002xaj.2_Silent_p.A201A	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	229					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GCAGGGCCTGGGCACAGCCCT	0.612													A	32878616	G	A	32878616	2	1	172	1	0	0	0	0	0	0	0	1	409	1219	43	4		4	AHCY	20	32878616	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1451039	32878616	30146904	1736	94848											
GGT7	2686	broad.mit.edu	37	chr20	33451198	33451198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggccgtgacgatgaccGtgagcccatcctggcggcag	15	13	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:33451198G>A	uc002xay.2	-	2	366	c.323C>T	c.(322-324)ACG>ATG	p.T108M	GGT7_uc002xaz.1_Missense_Mutation_p.T125M|GGT7_uc002xba.1_Missense_Mutation_p.T108M	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	108	Helical; Signal-anchor for type II membrane protein; (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						GACGATGACCGTGAGCCCATC	0.667													A	33451198	G	A	33451198	3	1	172	1	0	0	0	0	1	0	0	0	6364	1145	40	1	1721	1	GGT7	20	33451198	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	572582	33451198	29574322	1737	94849											
ACSS2	55902	broad.mit.edu	37	chr20	33502206	33502206	+	Frame_Shift_Del	DEL	C	C	-													gggtgactccaccagccagtCccccccaattaagaggtcat							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:33502205_33502205TC>T	uc010gey.2	+	6	920	c.799_799TC>T	c.(799-801)tccfs	p.S267fs	ACSS2_uc002xbc.2_Frame_Shift_Del_p.S172fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Del_p.S267fs|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	267					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCAGCCAGTCCCCCCCAAT	0.537													-	33502206	C	-	33502206	7	5	172	1	0	1	0	1	0	0	0	0	189	855	30	0	826	0	ACSS2	20	33502206	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	51008	33502206	29523314	1738	94850											
GSS	2937	broad.mit.edu	37	chr20	33530761	33530761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccctcttttaggacttgCttgtggatgtcaaagagacg	11	8	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:33530761C>T	uc002xbg.2	-	4	404	c.324G>A	c.(322-324)AAG>AAA	p.K108K	GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Silent_p.K39K|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	108					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTAGGACTTGCTTGTGGATGT	0.453													T	33530761	C	T	33530761	2	4	172	1	0	0	0	0	0	0	0	1	6829	796	28	2		2	GSS	20	33530761	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	28555	33530761	29494759	1739	94851											
KIAA0406	9675	broad.mit.edu	37	chr20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-													gaaggctctaagcactgccaGgggggcgtcccgtgtgagtc					rs149568606		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:36627613delG	uc002xhl.2	-	6	2979	c.2770delC	c.(2770-2772)CTGfs	p.L924fs	KIAA0406_uc002xhm.2_Frame_Shift_Del_p.L924fs	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	924							binding				0		Myeloproliferative disorder(115;0.00874)				AGCACTGCCAGGGGGGCGTCC	0.577													-	36627613	G	-	36627613	7	5	172	1	0	1	0	1	0	0	0	0	8173	991	35	0	515	0	KIAA0406	20	36627613	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	3096852	36627613	26397907	1740	94852											
SLC32A1	140679	broad.mit.edu	37	chr20	37356949	37356949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccaggaaggcagccgCgcctttttcccggcctgcta	10	16	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:37356949C>T	uc002xjc.2	+	2	1508	c.1245C>T	c.(1243-1245)CGC>CGT	p.R415R		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	415	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AAGGCAGCCGCGCCTTTTTCC	0.622													T	37356949	C	T	37356949	2	4	172	1	0	0	0	0	0	0	0	1	14565	755	27	1		1	SLC32A1	20	37356949	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	729336	37356949	25668571	1741	94853											
DHX35	60625	broad.mit.edu	37	chr20	37652340	37652340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattctttccagattcgagTgcaccgtaaatttgctgtgg	9	9	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:37652340T>C	uc002xjh.2	+	17	1612	c.1601T>C	c.(1600-1602)GTG>GCG	p.V534A	DHX35_uc010zwa.1_Missense_Mutation_p.V379A|DHX35_uc010zwb.1_Missense_Mutation_p.V379A|DHX35_uc010zwc.1_Missense_Mutation_p.V503A	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	534						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CAGATTCGAGTGCACCGTAAA	0.313													C	37652340	T	C	37652340	3	2	172	1	0	0	0	0	1	0	0	0	4508	1696	59	3	1667	3	DHX35	20	37652340	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	295391	37652340	25373180	1742	94854											
PTPRT	11122	broad.mit.edu	37	chr20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-													ccactatgggcccagcttccGgggggttgaggaacttgacc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:40739002_40739002CG>C	uc002xkg.3	-	22	3409	c.3225_3225CG>G	c.(3223-3225)ccgfs	p.P1075fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.P278fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1075	Tyrosine-protein phosphatase 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.H1075N(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)				GCCCAGCTTCCGGGGGGTTGA	0.627													-	40739003	G	-	40739003	7	5	172	1	0	1	0	1	0	0	0	0	12812	1116	39	0	1137	0	PTPRT	20	40739003	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	3086663	40739003	22286517	1743	94855											
PTPRT	11122	broad.mit.edu	37	chr20	40911166	40911166	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagttgattttggtctcCtgtgaacaacaaaaatgaga	8	7	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:40911166C>T	uc002xkg.2	-	13	2324	c.2140_splice	c.e13-1	p.E714_splice	PTPRT_uc010ggj.2_Splice_Site_p.E714_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTTGGTCTCCTGTGAACAAC	0.323													T	40911166	C	T	40911166	5	4	172	1	0	0	0	0	0	0	1	0	12812	695	24	4	2323	4	PTPRT	20	40911166	Splice_Site	SNP	C	TCGA-CG-4442-01A-01D-1158-08	172163	40911166	22114354	1744	94856											
IFT52	51098	broad.mit.edu	37	chr20	42252676	42252676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggataccacctccttccacaGcgtcatcgagtcagtacctg	8	15	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:42252676G>T	uc002xkw.2	+	10	1036	c.914G>T	c.(913-915)AGC>ATC	p.S305I	IFT52_uc002xky.2_Missense_Mutation_p.S305I|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.S281I|IFT52_uc002xkz.2_Missense_Mutation_p.S305I	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	305						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCTTCCACAGCGTCATCGAG	0.532													T	42252676	G	T	42252676	3	4	172	1	0	0	0	0	1	0	0	0	7561	971	34	5	948	5	IFT52	20	42252676	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1341510	42252676	20772844	1745	94857											
SERINC3	10955	broad.mit.edu	37	chr20	43141554	43141554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccgatacacagctttatAaccaaccagcacatcacaat	4	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:43141554A>G	uc002xme.2	-	3	417	c.283T>C	c.(283-285)TAT>CAT	p.Y95H	SERINC3_uc002xmf.1_Missense_Mutation_p.Y95H|SERINC3_uc010ggs.1_Missense_Mutation_p.Y88H|SERINC3_uc010zwp.1_Missense_Mutation_p.Y40H	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	95	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACAGCTTTATAACCAACCAGC	0.388													G	43141554	A	G	43141554	3	3	172	1	0	0	0	0	1	0	0	0	14081	362	13	3	1170	3	SERINC3	20	43141554	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	888878	43141554	19883966	1746	94858											
KCNS1	3787	broad.mit.edu	37	chr20	43727239	43727239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcagctgccgccgcacGccacccacgttcacgcgcag	11	20	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:43727239G>A	uc002xnc.2	-	4	571	c.174C>T	c.(172-174)GGC>GGT	p.G58G	KCNS1_uc002xnd.2_Silent_p.G58G	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	58	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				GCCGCCGCACGCCACCCACGT	0.761													A	43727239	G	A	43727239	2	1	172	1	0	0	0	0	0	0	0	1	8088	1074	38	1		1	KCNS1	20	43727239	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	585685	43727239	19298281	1747	94859											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505669	44505669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctagataaggtacaagtgTcctcaaagccagagcaggaa	11	9	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:44505669T>C	uc002xqd.2	+	2	675	c.472T>C	c.(472-474)TCC>CCC	p.S158P	ZSWIM3_uc010zxg.1_Missense_Mutation_p.S152P	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	158							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GGTACAAGTGTCCTCAAAGCC	0.498													C	44505669	T	C	44505669	3	2	172	1	0	0	0	0	1	0	0	0	18239	1667	58	3	478	3	ZSWIM3	20	44505669	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	778430	44505669	18519851	1748	94860											
CD40	958	broad.mit.edu	37	chr20	44747031	44747031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggggctgcttgctgaccGctgtgagttgtttttgcccc	13	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:44747031G>A	uc002xrg.1	+	1	126	c.49G>A	c.(49-51)GCT>ACT	p.A17T	CD40_uc002xrf.1_Missense_Mutation_p.A17T|CD40_uc002xrh.1_Missense_Mutation_p.A17T|CD40_uc002xri.1_Missense_Mutation_p.A17T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	17					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			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CTTGCTGACCGCTGTGAGTTG	0.612									Immune_Deficiency_with_Hyper-IgM				A	44747031	G	A	44747031	3	1	172	1	0	0	0	0	1	0	0	0	3015	1087	38	1	51	1	CD40	20	44747031	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	241362	44747031	18278489	1749	94861											
CDH22	64405	broad.mit.edu	37	chr20	44839105	44839105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcacgatcgcctggtcgCggaacgtgcccaggtcggcg	16	15	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:44839105C>T	uc002xrm.2	-	6	1528	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H	CDH22_uc010ghk.1_Missense_Mutation_p.R376H|CDH22_uc002xrn.1_Missense_Mutation_p.R127H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	376	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CGCCTGGTCGCGGAACGTGCC	0.711													T	44839105	C	T	44839105	3	4	172	1	0	0	0	0	1	0	0	0	3107	768	27	1	1383	1	CDH22	20	44839105	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	92074	44839105	18186415	1750	94862											
ZNF334	55713	broad.mit.edu	37	chr20	45130215	45130215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttcgctgatgttcaAcaaaggagaacttctgacag	11	7	2	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:45130215A>G	uc002xsc.2	-	5	1947	c.1763T>C	c.(1762-1764)GTT>GCT	p.V588A	ZNF334_uc002xsa.2_Missense_Mutation_p.V611A|ZNF334_uc002xsb.2_Missense_Mutation_p.V550A|ZNF334_uc002xsd.2_Missense_Mutation_p.V550A|ZNF334_uc010ghl.2_Missense_Mutation_p.V587A	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	588	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CTGATGTTCAACAAAGGAGAA	0.443													G	45130215	A	G	45130215	3	3	172	1	0	0	0	0	1	0	0	0	17848	43	2	3	283	3	ZNF334	20	45130215	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	291110	45130215	17895305	1751	94863											
NCOA3	8202	broad.mit.edu	37	chr20	46265284	46265284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtataacttcttgtggggaCggaaatgttgtcaagcagga	13	5	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:46265284C>T	uc002xtk.2	+	12	2359	c.2154C>T	c.(2152-2154)GAC>GAT	p.D718D	NCOA3_uc010ght.1_Silent_p.D728D|NCOA3_uc002xtl.2_Silent_p.D718D|NCOA3_uc002xtm.2_Silent_p.D718D|NCOA3_uc002xtn.2_Silent_p.D718D|NCOA3_uc010zyc.1_Silent_p.D513D	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	718					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			ovary(3)|lung(1)|skin(1)	5						CTTGTGGGGACGGAAATGTTG	0.473													T	46265284	C	T	46265284	2	4	172	1	0	0	0	0	0	0	0	1	10230	535	19	1		1	NCOA3	20	46265284	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1135069	46265284	16760236	1752	94864											
SPATA2	9825	broad.mit.edu	37	chr20	48522877	48522877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtcgtcccccacatccGttgccacaggctccttccga	9	17	0	1	rs140549434		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:48522877G>A	uc010gie.2	-	3	1192	c.842C>T	c.(841-843)ACG>ATG	p.T281M	SPATA2_uc002xuw.2_Missense_Mutation_p.T281M|SPATA2_uc010zyn.1_Missense_Mutation_p.T144M	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	281					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCCCACATCCGTTGCCACAGG	0.627													A	48522877	G	A	48522877	3	1	172	1	0	0	0	0	1	0	0	0	15004	1145	40	1	724	1	SPATA2	20	48522877	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	2257593	48522877	14502643	1753	94865											
ADNP	23394	broad.mit.edu	37	chr20	49510674	49510674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgctatgtaaggtgctgCcacatgctgaaaatgttccc	9	10	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:49510674C>A	uc002xvt.1	-	5	922	c.577G>T	c.(577-579)GCA>TCA	p.A193S	ADNP_uc002xvu.1_Missense_Mutation_p.A193S	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TAAGGTGCTGCCACATGCTGA	0.443													A	49510674	C	A	49510674	3	1	172	1	0	0	0	0	1	0	0	0	323	739	26	5	2735	5	ADNP	20	49510674	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	987797	49510674	13514846	1754	94866											
ADNP	23394	broad.mit.edu	37	chr20	49510754	49510754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagtgcacttcttacagTaataaacagcttgctctaca	7	9	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:49510754T>C	uc002xvt.1	-	5	842	c.497A>G	c.(496-498)TAC>TGC	p.Y166C	ADNP_uc002xvu.1_Missense_Mutation_p.Y166C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	166	C2H2-type 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CTTCTTACAGTAATAAACAGC	0.423													C	49510754	T	C	49510754	3	2	172	1	0	0	0	0	1	0	0	0	323	1638	57	3	2815	3	ADNP	20	49510754	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	80	49510754	13514766	1755	94867											
ZFP64	55734	broad.mit.edu	37	chr20	50705027	50705027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcatcagagtggatccGcaggtgcttcttgaggctac	12	12	3	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:50705027G>A	uc002xwk.2	-	8	1481	c.1132C>T	c.(1132-1134)CGG>TGG	p.R378W	ZFP64_uc002xwj.2_Missense_Mutation_p.R159W	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	335	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAGTGGATCCGCAGGTGCTTC	0.602													A	50705027	G	A	50705027	3	1	172	1	0	0	0	0	1	0	0	0	17649	1086	38	1	813	1	ZFP64	20	50705027	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1194273	50705027	12320493	1756	94868											
ZFP64	55734	broad.mit.edu	37	chr20	50769628	50769628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgcacttgaaagggcggTcggtgcagtggatacgctcg	16	8	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:50769628T>C	uc002xwl.2	-	6	1452	c.1103A>G	c.(1102-1104)GAC>GGC	p.D368G	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.D366G|ZFP64_uc002xwn.2_Missense_Mutation_p.D314G	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAAAGGGCGGTCGGTGCAGTG	0.577													C	50769628	T	C	50769628	3	2	172	1	0	0	0	0	1	0	0	0	17649	1667	58	3	2137	3	ZFP64	20	50769628	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	64601	50769628	12255892	1757	94869											
TSHZ2	128553	broad.mit.edu	37	chr20	51872037	51872037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctctgagcaatgggtgCgccctcgccaaccacgcccc	10	18	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:51872037C>T	uc002xwo.2	+	2	2996	c.2040C>T	c.(2038-2040)TGC>TGT	p.C680C		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	680					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GCAATGGGTGCGCCCTCGCCA	0.632													T	51872037	C	T	51872037	2	4	172	1	0	0	0	0	0	0	0	1	16621	776	27	1		1	TSHZ2	20	51872037	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1102409	51872037	11153483	1758	94870											
BCAS1	8537	broad.mit.edu	37	chr20	52645436	52645436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctttccgttggcatccGcaacagcacttatctccgtt	7	13	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:52645436G>A	uc002xws.2	-	4	556	c.218C>T	c.(217-219)GCG>GTG	p.A73V	BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A73V|BCAS1_uc010gil.1_Missense_Mutation_p.A73V|BCAS1_uc010zzc.1_5'UTR	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	73						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	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)			GTTGGCATCCGCAACAGCACT	0.493													A	52645436	G	A	52645436	3	1	172	1	0	0	0	0	1	0	0	0	1350	1087	38	1	1572	1	BCAS1	20	52645436	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	773399	52645436	10380084	1759	94871											
TUBB1	81027	broad.mit.edu	37	chr20	57597917	57597917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgggagatgattggTgaggaacacgggatcgactt	15	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:57597917T>C	uc002yak.2	+	2	344	c.75T>C	c.(73-75)GGT>GGC	p.G25G		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	25					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGATGATTGGTGAGGAACACG	0.552													C	57597917	T	C	57597917	2	2	172	1	0	0	0	0	0	0	0	1	16750	1683	59	3		3	TUBB1	20	57597917	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4952481	57597917	5427603	1760	94872											
ZNF831	128611	broad.mit.edu	37	chr20	57769627	57769627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagccgcggctcacgTggtgttgcctgagccgcagt	16	12	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:57769627T>C	uc002yan.2	+	1	3553	c.3553T>C	c.(3553-3555)TGG>CGG	p.W1185R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1185						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GCGGCTCACGTGGTGTTGCCT	0.637													C	57769627	T	C	57769627	3	2	172	1	0	0	0	0	1	0	0	0	18182	1696	59	3	3555	3	ZNF831	20	57769627	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	171710	57769627	5255893	1761	94873											
SYCP2	10388	broad.mit.edu	37	chr20	58467740	58467741	+	Frame_Shift_Ins	INS	-	-	T													ttatttccacagatgttgtcINStaaaacaccaggtaatctag							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:58467740_58467741insT	uc002yaz.2	-	22	1948_1949	c.1809_1810insA	c.(1807-1812)TTAGACfs	p.L603fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	603_604					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAGATGTTGTCTAAAACACCAG	0.332													T	58467741	-	T	58467740	7	5	172	1	0	1	1	0	0	0	0	0	15429	913	32	0	2874	0	SYCP2	20	58467740	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	698113	58467740	4557780	1762	94874	471	2									
SYCP2	10388	broad.mit.edu	37	chr20	58467741	58467742	+	Frame_Shift_Ins	INS	-	-	T													tatttccacagatgttgtctINSaaaacaccaggtaatctaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:58467740_58467741C>CT	uc002yaz.3	-	21	1948_1949	c.1809_1810G>AG	c.(1807-1812)ttagacfs	p.L603fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	603					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.L603S(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)			CAGATGTTGTCTAAAACACCAG	0.332													T	58467742	-	T	58467741	7	5	172	1	0	1	1	0	0	0	0	0	15429	1519	53	0	2875	0	SYCP2	20	58467741	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	58467741	4557779	1763	94875	471	2									
PPP1R3D	5509	broad.mit.edu	37	chr20	58514148	58514148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgcagcgcgtggttgCgacatgtgaggctgtagtct	16	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:58514148C>T	uc002ybb.2	-	1	1205	c.839G>A	c.(838-840)CGC>CAC	p.R280H	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	280					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGCGTGGTTGCGACATGTGAG	0.652													T	58514148	C	T	58514148	3	4	172	1	0	0	0	0	1	0	0	0	12374	768	27	1	64	1	PPP1R3D	20	58514148	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	46407	58514148	4511372	1764	94876											
CDH4	1002	broad.mit.edu	37	chr20	60498546	60498546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagagctttcatgctgaCagtgatggtgtccaaccagg	11	10	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:60498546C>T	uc002ybn.1	+	10	1426	c.1412C>T	c.(1411-1413)ACA>ATA	p.T471I	CDH4_uc002ybp.1_Missense_Mutation_p.T397I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	471	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCATGCTGACAGTGATGGTG	0.602													T	60498546	C	T	60498546	3	4	172	1	0	0	0	0	1	0	0	0	3112	478	17	4	1450	4	CDH4	20	60498546	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1984398	60498546	2526974	1765	94877											
CDH4	1002	broad.mit.edu	37	chr20	60509183	60509183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcaaagcccctggcgtgCgtcgcgtggatgagcggccg	16	13	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:60509183C>T	uc002ybn.1	+	15	2463	c.2449C>T	c.(2449-2451)CGT>TGT	p.R817C	CDH4_uc002ybp.1_Missense_Mutation_p.R743C	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	817	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCTGGCGTGCGTCGCGTGGA	0.682													T	60509183	C	T	60509183	3	4	172	1	0	0	0	0	1	0	0	0	3112	768	27	1	2507	1	CDH4	20	60509183	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	10637	60509183	2516337	1766	94878											
LAMA5	3911	broad.mit.edu	37	chr20	60887787	60887787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacaccgtggcccgctccAcacgcaccagcacacgcttg	9	18	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:60887787A>G	uc002ycq.2	-	67	9195	c.9128T>C	c.(9127-9129)GTG>GCG	p.V3043A		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3043	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCGCTCCACACGCACCAG	0.701													G	60887787	A	G	60887787	3	3	172	1	0	0	0	0	1	0	0	0	8609	159	6	3	2015	3	LAMA5	20	60887787	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	378604	60887787	2137733	1767	94879											
COL20A1	57642	broad.mit.edu	37	chr20	61943318	61943318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcagacgtgagccacgacGcggcacgagtgttctgggag	15	11	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:61943318G>T	uc011aau.1	+	14	1814	c.1714G>T	c.(1714-1716)GCG>TCG	p.A572S	COL20A1_uc011aav.1_Missense_Mutation_p.A393S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	572	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GAGCCACGACGCGGCACGAGT	0.677													T	61943318	G	T	61943318	3	4	172	1	0	0	0	0	1	0	0	0	3679	1087	38	5	1764	5	COL20A1	20	61943318	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1055531	61943318	1082202	1768	94880											
ZNF512B	57473	broad.mit.edu	37	chr20	62598853	62598853	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggccgggcactgtctGtccaccacggaccaccggca	13	17	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62598853G>A	uc002yhl.1	-	3	199	c.145C>T	c.(145-147)CAG>TAG	p.Q49*		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGCACTGTCTGTCCACCACGG	0.627													A	62598853	G	A	62598853	4	1	172	1	0	0	0	0	0	1	0	0	17954	1386	48	4	2593	4	ZNF512B	20	62598853	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	655535	62598853	426667	1769	94881											
OPRL1	4987	broad.mit.edu	37	chr20	62729410	62729410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccctcgacgtccgcacGtccagcaaagcccaggctgt	11	17	0	0	rs141501506		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62729410G>A	uc002yic.2	+	4	891	c.489G>A	c.(487-489)ACG>ACA	p.T163T	OPRL1_uc002yid.2_Silent_p.T163T|OPRL1_uc002yif.3_Silent_p.T158T	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	163	Cytoplasmic (Potential).				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)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ACGTCCGCACGTCCAGCAAAG	0.587													A	62729410	G	A	62729410	2	1	172	1	0	0	0	0	0	0	0	1	10886	1132	40	1		1	OPRL1	20	62729410	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	130557	62729410	296110	1770	94882											
NPBWR2	2832	broad.mit.edu	37	chr20	62738003	62738003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacggccgtgttgccaGtcagccccacagcacagatc	12	14	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62738003G>A	uc011abt.1	-	1	182	c.182C>T	c.(181-183)ACT>ATT	p.T61I		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	61	Helical; Name=1; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTGTTGCCAGTCAGCCCCAC	0.607													A	62738003	G	A	62738003	3	1	172	1	0	0	0	0	1	0	0	0	10569	1029	36	4	822	4	NPBWR2	20	62738003	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	8593	62738003	287517	1771	94883											
MYT1	4661	broad.mit.edu	37	chr20	62839761	62839761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctgcccgcctgccgaGcagagccagctgggcctggg	17	16	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62839761G>A	uc002yii.2	+	7	1576	c.1212G>A	c.(1210-1212)GAG>GAA	p.E404E	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Silent_p.E36E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	404					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCCTGCCGAGCAGAGCCAGC	0.652													A	62839761	G	A	62839761	2	1	172	1	0	0	0	0	0	0	0	1	10106	962	34	2		2	MYT1	20	62839761	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	101758	62839761	185759	1772	94884											
MYT1	4661	broad.mit.edu	37	chr20	62871118	62871118	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctggcacagatctcCtccatggagaagaacctgaa	8	13	3	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr20:62871118C>A	uc002yii.2	+	22	3463	c.3099C>A	c.(3097-3099)TCC>TCA	p.S1033S	MYT1_uc002yij.2_Silent_p.S692S|MYT1_uc002yik.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	1033					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACAGATCTCCTCCATGGAGA	0.587													A	62871118	C	A	62871118	2	1	172	1	0	0	0	0	0	0	0	1	10106	668	24	5		5	MYT1	20	62871118	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	31357	62871118	154402	1773	94885											
TPTE	7179	broad.mit.edu	37	chr21	10969127	10969127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaattcacttgtgtgtgGgctagaggatgataaaagaa	11	3	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:10969127G>T	uc002yip.1	-	7	489	c.121C>A	c.(121-123)CCA>ACA	p.P41T	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	41					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		CTTGTGTGTGGGCTAGAGGAT	0.269													T	10969127	G	T	10969127	3	4	172	1	0	0	0	0	1	0	0	0	16427	1246	43	5	1606	5	TPTE	21	10969127	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08		10969127	37160768	1774	94886											
NRIP1	8204	broad.mit.edu	37	chr21	16338326	16338327	+	Frame_Shift_Del	DEL	TC	TC	-													ttcatctcttaagggagtttTctcttttttttcactcttcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:16338325_16338326TTC>T	uc021whl.1	-	0	2188_2189	c.2188_2189GAA>A	c.(2188-2190)aaafs	p.K730fs	NRIP1_uc002yjx.2_Frame_Shift_Del_p.K730fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	730					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)		TAAGGGAGTTTTCTCTTTTTTT	0.406													-	16338327	TC	-	16338326	7	5	172	1	0	1	0	1	0	0	0	0	10652	1792	62	0	1292	0	NRIP1	21	16338326	Frame_Shift_Del	DEL	TC	TCGA-CG-4442-01A-01D-1158-08	5369199	16338326	31791569	1775	94887											
NCAM2	4685	broad.mit.edu	37	chr21	22664426	22664426	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctttgctttctttccagatCggttcgctatgttagcaaac	7	11	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:22664426C>A	uc002yld.1	+	5	733	c.484C>A	c.(484-486)CGG>AGG	p.R162R	NCAM2_uc011acb.1_Silent_p.R20R|NCAM2_uc011acc.1_Silent_p.R187R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	162	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		CTTTCCAGATCGGTTCGCTAT	0.403													A	22664426	C	A	22664426	2	1	172	1	0	0	0	0	0	0	0	1	10203	875	31	5		5	NCAM2	21	22664426	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	6326100	22664426	25465469	1776	94888											
APP	351	broad.mit.edu	37	chr21	27394347	27394347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctgctacttctactActttgtcttcactgtgaagg	6	13	4	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:27394347A>G	uc002ylz.2	-	6	874	c.674T>C	c.(673-675)GTA>GCA	p.V225A	APP_uc010glk.2_Missense_Mutation_p.V220A|APP_uc002yma.2_Missense_Mutation_p.V225A|APP_uc011ach.1_Missense_Mutation_p.V169A|APP_uc002ymb.2_Missense_Mutation_p.V225A|APP_uc010glj.2_Missense_Mutation_p.V169A|APP_uc011aci.1_Missense_Mutation_p.V190A|APP_uc011acj.1_Missense_Mutation_p.V225A	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	225	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				tacttctactactttgtcttc	0.154													G	27394347	A	G	27394347	3	3	172	1	0	0	0	0	1	0	0	0	815	391	14	3	1690	3	APP	21	27394347	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	4729921	27394347	20735548	1777	94889											
CLDN17	26285	broad.mit.edu	37	chr21	31538742	31538742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaaggagctatagaacTtgcattgcaaccggaccctg	9	12	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:31538742T>C	uc011acv.1	-	1	194	c.194A>G	c.(193-195)AAG>AGG	p.K65R		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	65	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GCTATAGAACTTGCATTGCAA	0.542													C	31538742	T	C	31538742	3	2	172	1	0	0	0	0	1	0	0	0	3478	1609	56	3	484	3	CLDN17	21	31538742	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4144395	31538742	16591153	1778	94890											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744414	31744414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgctgggagagcagaGgtcagtgctgtagaccagat	17	7	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:31744414G>T	uc002ynz.3	-	1	144	c.118C>A	c.(118-120)CTC>ATC	p.L40I		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	40						intermediate filament					0						GGAGAGCAGAGGTCAGTGCTG	0.592													T	31744414	G	T	31744414	3	4	172	1	0	0	0	0	1	0	0	0	8523	1000	35	5	413	5	KRTAP13-2	21	31744414	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	205672	31744414	16385481	1779	94891											
SYNJ1	8867	broad.mit.edu	37	chr21	34003306	34003306	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctattgcatggcgtTatctttctgtaaagtccagt	8	7	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:34003306T>C	uc002yqh.2	-	32	4838	c.4838A>G	c.(4837-4839)TAA>TGA	p.*1613*	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.*1527*|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.*199*	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1613							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TGCATGGCGTTATCTTTCTGT	0.478													C	34003306	T	C	34003306	2	2	172	1	0	0	0	0	0	0	0	1	15449	1761	61	3		3	SYNJ1	21	34003306	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2258892	34003306	14126589	1780	94892											
SYNJ1	8867	broad.mit.edu	37	chr21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggttccgacacatactcGaattttcttaggctttgaat	7	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:34045776G>A	uc002yqh.2	-	14	1717	c.1717C>T	c.(1717-1719)CGA>TGA	p.R573*	SYNJ1_uc011ads.1_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqf.2_Nonsense_Mutation_p.R534*|SYNJ1_uc002yqg.2_Nonsense_Mutation_p.R529*|SYNJ1_uc002yqi.2_Nonsense_Mutation_p.R573*	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						ACACATACTCGAATTTTCTTA	0.388													A	34045776	G	A	34045776	4	1	172	1	0	0	0	0	0	1	0	0	15449	1066	37	1	3222	1	SYNJ1	21	34045776	Nonsense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	42470	34045776	14084119	1781	94893											
PRDM15	63977	broad.mit.edu	37	chr21	43248570	43248570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgacgtccttgcggtagaAcatcttgctgcagacctcac	9	13	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:43248570A>G	uc002yzq.1	-	19	2695	c.2584T>C	c.(2584-2586)TTC>CTC	p.F862L	PRDM15_uc002yzo.2_Missense_Mutation_p.F533L|PRDM15_uc002yzp.2_Missense_Mutation_p.F553L|PRDM15_uc002yzr.1_Missense_Mutation_p.F553L	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	862	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGCGGTAGAACATCTTGCTG	0.602													G	43248570	A	G	43248570	3	3	172	1	0	0	0	0	1	0	0	0	12456	43	2	3	1991	3	PRDM15	21	43248570	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	9202794	43248570	4881325	1782	94894											
CBS	875	broad.mit.edu	37	chr21	44486452	44486452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgatgcggtccttcaCgctcccgcccgcgttgaaga	12	15	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:44486452C>T	uc002zcu.2	-	5	597	c.352G>A	c.(352-354)GTG>ATG	p.V118M	CBS_uc002zcs.1_Missense_Mutation_p.V13M|CBS_uc002zct.2_Missense_Mutation_p.V118M|CBS_uc002zcw.3_Missense_Mutation_p.V118M|CBS_uc002zcv.2_Missense_Mutation_p.V118M	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	118					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CGGTCCTTCACGCTCCCGCCC	0.627													T	44486452	C	T	44486452	3	4	172	1	0	0	0	0	1	0	0	0	2711	536	19	1	1355	1	CBS	21	44486452	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1237882	44486452	3643443	1783	94895											
PDXK	8566	broad.mit.edu	37	chr21	45163612	45163612	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccccctaaaggttatacGagggacaagtcgttcctggc	10	12	1	0	rs144786200		TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45163612G>A	uc002zdm.3	+	4	453	c.255G>A	c.(253-255)ACG>ACA	p.T85T	PDXK_uc010gpj.2_Silent_p.T85T|PDXK_uc002zdn.3_Intron|PDXK_uc002zdq.3_Silent_p.T12T	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	85					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				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	AAGGTTATACGAGGGACAAGT	0.572													A	45163612	G	A	45163612	2	1	172	1	0	0	0	0	0	0	0	1	11697	1045	37	1		1	PDXK	21	45163612	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	677160	45163612	2966283	1784	94896											
AGPAT3	56894	broad.mit.edu	37	chr21	45401009	45401009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcagttttgtcttggGcgtctttgccagcggatcac	10	12	5	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45401009G>A	uc002zdv.2	+	9	1205	c.983G>A	c.(982-984)GGC>GAC	p.G328D	AGPAT3_uc002zdw.2_Missense_Mutation_p.G328D|AGPAT3_uc002zdx.2_Missense_Mutation_p.G415D|AGPAT3_uc002zdy.2_Missense_Mutation_p.G266D	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	328	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TTTGTCTTGGGCGTCTTTGCC	0.582													A	45401009	G	A	45401009	3	1	172	1	0	0	0	0	1	0	0	0	388	1203	42	2	1009	2	AGPAT3	21	45401009	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	237397	45401009	2728886	1785	94897											
DNMT3L	29947	broad.mit.edu	37	chr21	45666330	45666330	+	Frame_Shift_Del	DEL	G	G	-													atacttgaaatattctcttaGggggagaaagcagttcttca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45666330delG	uc002zeg.1	-	12	1595	c.1111delC	c.(1111-1113)CTAfs	p.L371fs	DNMT3L_uc002zeh.1_Frame_Shift_Del_p.L372fs	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	371					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			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TATTCTCTTAGGGGGAGAAAG	0.448													-	45666330	G	-	45666330	7	5	172	1	0	1	0	1	0	0	0	0	4678	991	35	0	53	0	DNMT3L	21	45666330	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	265321	45666330	2463565	1786	94898											
C21orf29	54084	broad.mit.edu	37	chr21	45941887	45941887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagtagggccccacactgAagaactcccagtcgtaggcg	12	13	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45941887A>G	uc002zfe.1	-	9	1511	c.1445T>C	c.(1444-1446)TTC>TCC	p.F482S	C21orf29_uc010gpv.1_Missense_Mutation_p.F414S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	482	EAR 4.				cell adhesion	extracellular region	structural molecule activity				0						CCCCACACTGAAGAACTCCCA	0.607													G	45941887	A	G	45941887	3	3	172	1	0	0	0	0	1	0	0	0	2124	246	9	3	580	3	C21orf29	21	45941887	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	275557	45941887	2188008	1787	94899											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959500	45959500	+	Frame_Shift_Del	DEL	G	G	-													acgcagcaggcctgctggcaGggggaggaggtgcagcaagc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:45959500delG	uc002zfh.1	-	1	579	c.534delC	c.(532-534)CCCfs	p.P178fs	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	178	24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1						CCTGCTGGCAGGGGGAGGAGG	0.617													-	45959500	G	-	45959500	7	5	172	1	0	1	0	1	0	0	0	0	8505	987	35	0	318	0	KRTAP10-1	21	45959500	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	17613	45959500	2170395	1788	94900											
MCM3AP	8888	broad.mit.edu	37	chr21	47695152	47695152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctggctacgggtctccCgcatgtacctctccttctca	8	16	4	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr21:47695152C>T	uc002zir.1	-	6	1982	c.1946G>A	c.(1945-1947)CGG>CAG	p.R649Q		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	649					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					ACGGGTCTCCCGCATGTACCT	0.592													T	47695152	C	T	47695152	3	4	172	1	0	0	0	0	1	0	0	0	9388	652	23	1	4088	1	MCM3AP	21	47695152	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1735652	47695152	434743	1789	94901											
CECR2	27443	broad.mit.edu	37	chr22	18022149	18022149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatcgagtacactctgccGtctggaatgggaaccatggt	12	9	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:18022149G>A	uc010gqw.1	+	15	2377	c.2251G>A	c.(2251-2253)GTC>ATC	p.V751I	CECR2_uc010gqv.1_Missense_Mutation_p.V610I|CECR2_uc002zml.2_Missense_Mutation_p.V610I	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	793					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		ACACTCTGCCGTCTGGAATGG	0.587													A	18022149	G	A	18022149	3	1	172	1	0	0	0	0	1	0	0	0	3206	1145	40	1	2311	1	CECR2	22	18022149	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08		18022149	33282417	1790	94902											
MICAL3	57553	broad.mit.edu	37	chr22	18347700	18347700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctggccacggcgttgGcccgtccgtttgcatctgtg	15	12	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:18347700G>A	uc002zng.3	-	19	2923	c.2570C>T	c.(2569-2571)GCC>GTC	p.A857V	MICAL3_uc011agl.1_Missense_Mutation_p.A857V|MICAL3_uc002znh.2_Missense_Mutation_p.A857V|MICAL3_uc002znj.1_Missense_Mutation_p.A585V|MICAL3_uc002znk.1_Missense_Mutation_p.A857V|MICAL3_uc002znl.1_Missense_Mutation_p.A490V|MICAL3_uc002znm.2_Missense_Mutation_p.A358V|MICAL3_uc010grf.2_Missense_Mutation_p.A981V	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	857						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CACGGCGTTGGCCCGTCCGTT	0.587													A	18347700	G	A	18347700	3	1	172	1	0	0	0	0	1	0	0	0	9571	1203	42	2	3843	2	MICAL3	22	18347700	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	325551	18347700	32956866	1791	94903											
TUBA8	51807	broad.mit.edu	37	chr22	18604328	18604328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttctgcctggaacacgGcatccaggcagacggcactt	11	14	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:18604328G>A	uc002znv.1	+	2	159	c.86G>A	c.(85-87)GGC>GAC	p.G29D	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Missense_Mutation_p.G53D|TUBA8_uc002znu.1_Missense_Mutation_p.G29D	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	29					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CTGGAACACGGCATCCAGGCA	0.552													A	18604328	G	A	18604328	3	1	172	1	0	0	0	0	1	0	0	0	16747	1203	42	2	92	2	TUBA8	22	18604328	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	256628	18604328	32700238	1792	94904											
CLTCL1	8218	broad.mit.edu	37	chr22	19197931	19197931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctcgcgatgtccagtgCgtcatagttgtccaggcggc	14	11	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:19197931C>T	uc002zpb.2	-	20	3229	c.3154G>A	c.(3154-3156)GCA>ACA	p.A1052T	CLTCL1_uc011agv.1_Missense_Mutation_p.A1052T|CLTCL1_uc011agw.1_Missense_Mutation_p.A1052T|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpe.2_Missense_Mutation_p.A12T|CLTCL1_uc002zpd.1_Missense_Mutation_p.A12T	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1052	Proximal segment.|Heavy chain arm.				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			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					ATGTCCAGTGCGTCATAGTTG	0.537			T	?	ALCL								T	19197931	C	T	19197931	3	4	172	1	0	0	0	0	1	0	0	0	3567	768	27	1	1820	1	CLTCL1	22	19197931	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	593603	19197931	32106635	1793	94905											
PI4KA	5297	broad.mit.edu	37	chr22	21064220	21064220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcttgattgtctggccgCgaaaacagggcaggcccgtg	15	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:21064220C>T	uc002zsz.3	-	53	6206	c.5975G>A	c.(5974-5976)CGC>CAC	p.R1992H	PI4KA_uc010gsp.2_Missense_Mutation_p.R383H|PI4KA_uc002zsy.3_Missense_Mutation_p.R802H	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1992	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			TGTCTGGCCGCGAAAACAGGG	0.592													T	21064220	C	T	21064220	3	4	172	1	0	0	0	0	1	0	0	0	11873	768	27	1	171	1	PI4KA	22	21064220	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1866289	21064220	30240346	1794	94906											
LZTR1	8216	broad.mit.edu	37	chr22	21342386	21342386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcaactggccagtggaCggagtggaaaattgaaggac	15	6	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:21342386C>T	uc002zto.2	+	5	591	c.488C>T	c.(487-489)ACG>ATG	p.T163M	LZTR1_uc002ztn.2_Missense_Mutation_p.T122M|LZTR1_uc011ahy.1_Missense_Mutation_p.T144M|LZTR1_uc010gsr.1_Missense_Mutation_p.T34M	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	163	Kelch 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			GGCCAGTGGACGGAGTGGAAA	0.473													T	21342386	C	T	21342386	3	4	172	1	0	0	0	0	1	0	0	0	9137	536	19	1	506	1	LZTR1	22	21342386	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	278166	21342386	29962180	1795	94907											
CCDC116	164592	broad.mit.edu	37	chr22	21989291	21989291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcctcttccctgccctGcaaagcgtggtcagccaggc	10	18	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:21989291G>A	uc002zve.2	+	4	1032	c.939G>A	c.(937-939)CTG>CTA	p.L313L	CCDC116_uc011aih.1_Silent_p.L313L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	313										ovary(1)|skin(1)	2	Colorectal(54;0.105)					TCCCTGCCCTGCAAAGCGTGG	0.662													A	21989291	G	A	21989291	2	1	172	1	0	0	0	0	0	0	0	1	2753	1306	46	2		2	CCDC116	22	21989291	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	646905	21989291	29315275	1796	94908											
PPIL2	23759	broad.mit.edu	37	chr22	22025326	22025326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctacccagtctgcactcccGatggcatcgtctttgactta	7	14	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:22025326G>A	uc010gtj.1	+	4	285	c.169G>A	c.(169-171)GAT>AAT	p.D57N	PPIL2_uc002zvh.3_Missense_Mutation_p.D57N|PPIL2_uc002zvi.3_Missense_Mutation_p.D57N|PPIL2_uc002zvg.3_Missense_Mutation_p.D57N|PPIL2_uc011aij.1_Intron	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	57	U-box.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					CTGCACTCCCGATGGCATCGT	0.493													A	22025326	G	A	22025326	3	1	172	1	0	0	0	0	1	0	0	0	12327	1058	37	1	183	1	PPIL2	22	22025326	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	36035	22025326	29279240	1797	94909											
SUSD2	56241	broad.mit.edu	37	chr22	24579170	24579170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcaggatccatgatgggCggcaaggactttgtggtgcg	15	8	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:24579170C>T	uc002zzn.1	+	2	266	c.222C>T	c.(220-222)GGC>GGT	p.G74G		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	74	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCATGATGGGCGGCAAGGACT	0.622													T	24579170	C	T	24579170	2	4	172	1	0	0	0	0	0	0	0	1	15405	755	27	1		1	SUSD2	22	24579170	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2553844	24579170	26725396	1798	94910											
C22orf36	388886	broad.mit.edu	37	chr22	24981946	24981946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccccggccgcactgcCctcaggctcaaggtccaggc	14	17	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:24981946C>A	uc003aaq.2	-	4	885	c.856G>T	c.(856-858)GGC>TGC	p.G286C	GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	hypothetical protein LOC388886	286											0						GCCGCACTGCCCTCAGGCTCA	0.731													A	24981946	C	A	24981946	3	1	172	1	0	0	0	0	1	0	0	0	2146	623	22	5	95	5	C22orf36	22	24981946	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	402776	24981946	26322620	1799	94911											
PIWIL3	440822	broad.mit.edu	37	chr22	25150758	25150758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttatacaaacccatgacGgtataactgaatggccttct	6	10	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:25150758G>A	uc003abd.1	-	7	1183	c.766C>T	c.(766-768)CGT>TGT	p.R256C	PIWIL3_uc011ajx.1_Missense_Mutation_p.R147C|PIWIL3_uc011ajy.1_Missense_Mutation_p.R147C|PIWIL3_uc010gut.1_Missense_Mutation_p.R256C	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	256					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						AACCCATGACGGTATAACTGA	0.338													A	25150758	G	A	25150758	3	1	172	1	0	0	0	0	1	0	0	0	11959	1116	39	1	1942	1	PIWIL3	22	25150758	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	168812	25150758	26153808	1800	94912											
MYO18B	84700	broad.mit.edu	37	chr22	26423476	26423476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgactcgtcctcatcctcCggctccatcgtgtccttcaa	6	17	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:26423476C>T	uc003abz.1	+	43	7786	c.7536C>T	c.(7534-7536)TCC>TCT	p.S2512S	MYO18B_uc003aca.1_Silent_p.S2393S|MYO18B_uc010guy.1_Silent_p.S2394S|MYO18B_uc010guz.1_Silent_p.S2392S|MYO18B_uc011aka.1_Silent_p.S1666S|MYO18B_uc011akb.1_Silent_p.S2025S|MYO18B_uc010gva.1_Silent_p.S495S|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2512	Poly-Ser.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CCTCATCCTCCGGCTCCATCG	0.582													T	26423476	C	T	26423476	2	4	172	1	0	0	0	0	0	0	0	1	10066	639	23	1		1	MYO18B	22	26423476	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1272718	26423476	24881090	1801	94913											
KREMEN1	83999	broad.mit.edu	37	chr22	29490351	29490351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagactttccagcatccatAcaacactctgaaatacccca	4	15	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:29490351A>G	uc011akm.1	+	2	216	c.203A>G	c.(202-204)TAC>TGC	p.Y68C	KREMEN1_uc003ael.2_Missense_Mutation_p.Y68C|KREMEN1_uc011akn.1_Translation_Start_Site	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	66	Extracellular (Potential).|Kringle.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						CAGCATCCATACAACACTCTG	0.483													G	29490351	A	G	29490351	3	3	172	1	0	0	0	0	1	0	0	0	8442	391	14	3	209	3	KREMEN1	22	29490351	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	3066875	29490351	21814215	1802	94914											
THOC5	8563	broad.mit.edu	37	chr22	29913074	29913074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtccccagccagtcccGcatccacaatgtctttggtg	10	14	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:29913074G>A	uc003afr.2	-	18	1960	c.1625C>T	c.(1624-1626)GCG>GTG	p.A542V	THOC5_uc003afq.2_Missense_Mutation_p.A203V|THOC5_uc003afs.2_Missense_Mutation_p.A542V|THOC5_uc003aft.2_Missense_Mutation_p.A542V|THOC5_uc003afu.2_Missense_Mutation_p.A542V|THOC5_uc010gvo.2_Missense_Mutation_p.A286V	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	542					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						AGCCAGTCCCGCATCCACAAT	0.537													A	29913074	G	A	29913074	3	1	172	1	0	0	0	0	1	0	0	0	15865	1087	38	1	442	1	THOC5	22	29913074	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	422723	29913074	21391492	1803	94915											
MTMR3	8897	broad.mit.edu	37	chr22	30412615	30412615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catactcaggaacggacatgTtccgtgtggtcacttcttcg	10	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:30412615T>C	uc003agv.3	+	15	1930	c.1602T>C	c.(1600-1602)TGT>TGC	p.C534C	MTMR3_uc003agu.3_Silent_p.C534C|MTMR3_uc003agw.3_Silent_p.C534C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	534	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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AACGGACATGTTCCGTGTGGT	0.493													C	30412615	T	C	30412615	2	2	172	1	0	0	0	0	0	0	0	1	9945	1731	60	3		3	MTMR3	22	30412615	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	499541	30412615	20891951	1804	94916											
LIF	3976	broad.mit.edu	37	chr22	30640888	30640888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggggctccccgccccatgTttccagtgcagaaccaacag	11	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:30640888T>C	uc003agz.2	-	2	166	c.54A>G	c.(52-54)AAA>AAG	p.K18K	LIF_uc011aks.1_Intron|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	18					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)			CCGCCCCATGTTTCCAGTGCA	0.592													C	30640888	T	C	30640888	2	2	172	1	0	0	0	0	0	0	0	1	8779	1722	60	3		3	LIF	22	30640888	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	228273	30640888	20663678	1805	94917											
DUSP18	150290	broad.mit.edu	37	chr22	31059826	31059826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatacaaggtgttcactacCtccactgagacattgatgac	7	11	2	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:31059826C>A	uc003aiu.2	-	2	666	c.165G>T	c.(163-165)GAG>GAT	p.E55D	SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.E55D	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	55						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						TGTTCACTACCTCCACTGAGA	0.483													A	31059826	C	A	31059826	3	1	172	1	0	0	0	0	1	0	0	0	4817	680	24	5	405	5	DUSP18	22	31059826	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	418938	31059826	20244740	1806	94918											
CARD10	29775	broad.mit.edu	37	chr22	37914037	37914037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgtgaagtgttcgGggtagtagaactccagggct	16	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:37914037G>T	uc003asx.1	-	2	317	c.314C>A	c.(313-315)CCC>CAC	p.P105H	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.P105H	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	105	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					GAAGTGTTCGGGGTAGTAGAA	0.627													T	37914037	G	T	37914037	3	4	172	1	0	0	0	0	1	0	0	0	2644	1232	43	5	2860	5	CARD10	22	37914037	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6854211	37914037	13390529	1807	94919											
SOX10	6663	broad.mit.edu	37	chr22	38369825	38369825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccctggggccccgcggTctctgtcttcacctgggctt	14	16	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:38369825T>C	uc003aun.1	-	4	1356	c.1078A>G	c.(1078-1080)ACC>GCC	p.T360A	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.T360A	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	360						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					GGCCCCGCGGTCTCTGTCTTC	0.662													C	38369825	T	C	38369825	3	2	172	1	0	0	0	0	1	0	0	0	14941	1667	58	3	326	3	SOX10	22	38369825	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	455788	38369825	12934741	1808	94920											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38503898	38503899	+	Frame_Shift_Del	DEL	AG	AG	-													ttcaagtgccgctgggtgtcAgacatctgcaccaagatctc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:38503898_38503899delAG	uc003auw.2	-	4	380_381	c.236_237delCT	c.(235-237)TCTfs	p.S79fs		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	79	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					GCTGGGTGTCAGACATCTGCAC	0.619													-	38503899	AG	-	38503898	7	5	172	1	0	1	0	1	0	0	0	0	1303	175	7	0	1396	0	BAIAP2L2	22	38503898	Frame_Shift_Del	DEL	AG	TCGA-CG-4442-01A-01D-1158-08	134073	38503898	12800668	1809	94921											
TMEM184B	25829	broad.mit.edu	37	chr22	38621482	38621482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatgaagaacttgaggaCggggctgtaggggctgagca	17	7	0	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:38621482C>T	uc003avf.1	-	7	960	c.736G>A	c.(736-738)GTC>ATC	p.V246I	TMEM184B_uc003avg.1_Missense_Mutation_p.V246I|TMEM184B_uc003avh.1_Missense_Mutation_p.V180I|TMEM184B_uc010gxl.1_RNA	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	246						integral to membrane					0	Melanoma(58;0.045)					AACTTGAGGACGGGGCTGTAG	0.592													T	38621482	C	T	38621482	3	4	172	1	0	0	0	0	1	0	0	0	16102	536	19	1	499	1	TMEM184B	22	38621482	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	117584	38621482	12683084	1810	94922											
CBX6	23466	broad.mit.edu	37	chr22	39262317	39262317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattccttgattgtgaccGtcaggaggttgctggtgaca	13	7	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:39262317G>A	uc003awl.2	-	5	1199	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	379					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GATTGTGACCGTCAGGAGGTT	0.652													A	39262317	G	A	39262317	3	1	172	1	0	0	0	0	1	0	0	0	2722	1145	40	1	106	1	CBX6	22	39262317	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	640835	39262317	12042249	1811	94923											
TAB1	10454	broad.mit.edu	37	chr22	39772162	39772162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagggacggacgcagcccGggccgccatcgccttctcct	13	17	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:39772162G>A	uc003axr.2	+	2	2003	c.221G>A	c.(220-222)CGG>CAG	p.R74Q	SYNGR1_uc003axo.3_Missense_Mutation_p.R148Q|SYNGR1_uc003axp.3_Silent_p.P114P|SYNGR1_uc003axq.3_Missense_Mutation_p.R148Q|SYNGR1_uc003axs.3_Missense_Mutation_p.R149Q	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	Error:Variant_position_missing_in_Q15750_after_alignment					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)	1						GACGCAGCCCGGGCCGCCATC	0.622													A	39772162	G	A	39772162	3	1	172	1	0	0	0	0	1	0	0	0	15492	1116	39	1		1	TAB1	22	39772162	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	509845	39772162	11532404	1812	94924											
CACNA1I	8911	broad.mit.edu	37	chr22	40064344	40064344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggatggttgggtgaaCatcatgtacaatggactgga	13	6	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:40064344C>T	uc003ayc.2	+	24	4152	c.4152C>T	c.(4150-4152)AAC>AAT	p.N1384N	CACNA1I_uc003ayd.2_Silent_p.N1349N|CACNA1I_uc003aye.2_Silent_p.N1299N|CACNA1I_uc003ayf.2_Silent_p.N1264N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1384	Extracellular (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTTGGGTGAACATCATGTACA	0.572													T	40064344	C	T	40064344	2	4	172	1	0	0	0	0	0	0	0	1	2546	477	17	4		4	CACNA1I	22	40064344	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	292182	40064344	11240222	1813	94925											
EP300	2033	broad.mit.edu	37	chr22	41545781	41545782	+	Frame_Shift_Ins	INS	-	-	T													caggcacaaatgtctagttcINSttcctgcccggtgaactctc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:41545781_41545782insT	uc003azl.3	+	14	2791_2792	c.2396_2397insT	c.(2395-2397)TCTfs	p.S799fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	799	Poly-Ser.				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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						ATGTCTAGTTCTTCCTGCCCGG	0.416			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41545782	-	T	41545781	7	5	172	1	0	1	1	0	0	0	0	0	5148	913	32	0	2450	0	EP300	22	41545781	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1481437	41545781	9758785	1814	94926	472	2									
EP300	2033	broad.mit.edu	37	chr22	41545782	41545783	+	Frame_Shift_Ins	INS	-	-	T													aggcacaaatgtctagttctINStcctgcccggtgaactctcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:41545781_41545782C>CT	uc003azl.4	+	13	2791_2792	c.2396_2397C>CT	c.(2395-2397)tctfs	p.S799fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	799	Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|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	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|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						ATGTCTAGTTCTTCCTGCCCGG	0.416			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				T	41545783	-	T	41545782	7	5	172	1	0	1	1	0	0	0	0	0	5148	1596	56	0	2451	0	EP300	22	41545782	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	41545782	9758784	1815	94927	472	2									
EP300	2033	broad.mit.edu	37	chr22	41574817	41574817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagggcattttgccagcccgGaccagaattcaatgctttct	9	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:41574817G>A	uc003azl.3	+	31	7497	c.7102G>A	c.(7102-7104)GAC>AAC	p.D2368N		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2368					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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TGCCAGCCCGGACCAGAATTC	0.567			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41574817	G	A	41574817	3	1	172	1	0	0	0	0	1	0	0	0	5148	1174	41	4	7224	4	EP300	22	41574817	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	29035	41574817	9729749	1816	94928											
PPARA	5465	broad.mit.edu	37	chr22	46611162	46611162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtggagcattgaacatcGaatgtagaatctgcggggac	13	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:46611162G>A	uc003bgw.1	+	5	567	c.301G>A	c.(301-303)GAA>AAA	p.E101K	PPARA_uc003bgx.1_Missense_Mutation_p.E101K|PPARA_uc010hab.1_Missense_Mutation_p.E101K|PPARA_uc003bha.2_Missense_Mutation_p.E101K|PPARA_uc003bhb.1_Missense_Mutation_p.E101K|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	101	Nuclear receptor.				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			ovary(1)|central_nervous_system(1)	2		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)	ATTGAACATCGAATGTAGAAT	0.597													A	46611162	G	A	46611162	3	1	172	1	0	0	0	0	1	0	0	0	12297	1059	37	1	307	1	PPARA	22	46611162	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	5036345	46611162	4693404	1817	94929											
PKDREJ	10343	broad.mit.edu	37	chr22	46653562	46653563	+	Frame_Shift_Ins	INS	-	-	A													taaaccgctgctgttctggaINSaaaaaatagagtgcatatcc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:46653561_46653562G>GA	uc003bhh.3	-	0	5658_5659	c.5658_5659C>TC	c.(5656-5661)tttccafs	p.F1886fs		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1886					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)		TGCTGTTCTGGAAAAAAATAGA	0.411													A	46653563	-	A	46653562	7	5	172	1	0	1	1	0	0	0	0	0	11970	243	9	0	1107	0	PKDREJ	22	46653562	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	42400	46653562	4651004	1818	94930											
CELSR1	9620	broad.mit.edu	37	chr22	46780469	46780469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtctgaagaagtcgGctgggaaggagacggaggac	19	6	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:46780469G>A	uc003bhw.1	-	20	6854	c.6854C>T	c.(6853-6855)GCC>GTC	p.A2285V	CELSR1_uc011arc.1_Missense_Mutation_p.A606V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2285	Extracellular (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		GAAGAAGTCGGCTGGGAAGGA	0.582													A	46780469	G	A	46780469	3	1	172	1	0	0	0	0	1	0	0	0	3221	1203	42	2	2254	2	CELSR1	22	46780469	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	126907	46780469	4524097	1819	94931											
TBC1D22A	25771	broad.mit.edu	37	chr22	47188444	47188445	+	Frame_Shift_Ins	INS	-	-	C													acgtgtatggtgcccagcacINScccccctttgatccactgtt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:47188443_47188444A>AC	uc003bib.3	+	1	255_256	c.89_90A>AC	c.(88-90)cacfs	p.H30fs	TBC1D22A_uc010haf.3_5'UTR|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_5'UTR	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	30						intracellular	Rab GTPase activator activity|protein homodimerization 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)		GGTGCCCAGCACCCCCCCTTTG	0.569													C	47188445	-	C	47188444	7	5	172	1	0	1	1	0	0	0	0	0	15608	506	18	0	96	0	TBC1D22A	22	47188444	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	407975	47188444	4116122	1820	94932											
ZBED4	9889	broad.mit.edu	37	chr22	50280682	50280682	+	Frame_Shift_Del	DEL	C	C	-													gccgtcagatttttgggctgCcccccaagcatcgtcccttc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50280682delC	uc003bix.2	+	2	3842	c.3372delC	c.(3370-3372)TGCfs	p.C1124fs		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1124						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		TTTTGGGCTGCCCCCCAAGCA	0.552													-	50280682	C	-	50280682	7	5	172	1	0	1	0	1	0	0	0	0	17517	747	26	0	3374	0	ZBED4	22	50280682	Frame_Shift_Del	DEL	C	TCGA-CG-4442-01A-01D-1158-08	3092238	50280682	1023884	1821	94933											
SELO	83642	broad.mit.edu	37	chr22	50647139	50647139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagaaatgctgccttcttCcgggaggtcagtgggccgca	14	11	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50647139C>T	uc011arr.1	+	3	991	c.933C>T	c.(931-933)TTC>TTT	p.F311F	SELO_uc010hap.2_Silent_p.F122F|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	311											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGCCTTCTTCCGGGAGGTCA	0.607													T	50647139	C	T	50647139	2	4	172	1	0	0	0	0	0	0	0	1	14018	854	30	4		4	SELO	22	50647139	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	366457	50647139	657427	1822	94934											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682331	50682331	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggtgggcaggccagtgccTggagcagcctccataacctg	14	13	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50682331T>C	uc003bkb.1	-	1	1070	c.558A>G	c.(556-558)CCA>CCG	p.P186P	TUBGCP6_uc010har.1_Silent_p.P186P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.P186P	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	186					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		GGCCAGTGCCTGGAGCAGCCT	0.557													C	50682331	T	C	50682331	2	2	172	1	0	0	0	0	0	0	0	1	16767	1567	55	3		3	TUBGCP6	22	50682331	Silent	SNP	T	TCGA-CG-4442-01A-01D-1158-08	35192	50682331	622235	1823	94935											
PLXNB2	23654	broad.mit.edu	37	chr22	50720088	50720088	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtacaggtcggtctcCgtcagcgtcttcatggtgca	11	12	5	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50720088C>A	uc003bkv.3	-	21	3535	c.3429G>T	c.(3427-3429)ACG>ACT	p.T1143T	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.T128T	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1143	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		GGTCGGTCTCCGTCAGCGTCT	0.657													A	50720088	C	A	50720088	2	1	172	1	0	0	0	0	0	0	0	1	12124	639	23	5		5	PLXNB2	22	50720088	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	37757	50720088	584478	1824	94936											
SAPS2	9701	broad.mit.edu	37	chr22	50869710	50869710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaggacagaagccagcGgatccgagagcagggtggag	19	7	0	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50869710G>A	uc003blb.1	+	12	1656	c.1234G>A	c.(1234-1236)GGA>AGA	p.G412R	SAPS2_uc003bky.1_Missense_Mutation_p.G412R|SAPS2_uc003bkz.1_Missense_Mutation_p.G412R|SAPS2_uc003blc.2_Missense_Mutation_p.G412R|SAPS2_uc003bla.1_Missense_Mutation_p.G413R|SAPS2_uc003bld.1_5'UTR	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	412						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		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;0.222)		AGAAGCCAGCGGATCCGAGAG	0.582													A	50869710	G	A	50869710	3	1	172	1	0	0	0	0	1	0	0	0	13837	1117	39	1	1268	1	SAPS2	22	50869710	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	149622	50869710	434856	1825	94937											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987578	50987578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatgtgttcaacccccGggagaacacctggcggcccc	11	17	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50987578G>A	uc003bmi.2	+	1	1117	c.983G>A	c.(982-984)CGG>CAG	p.R328Q		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	328	Kelch 1.									central_nervous_system(1)	1		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)		TTCAACCCCCGGGAGAACACC	0.716													A	50987578	G	A	50987578	3	1	172	1	0	0	0	0	1	0	0	0	8361	1116	39	1	985	1	KLHDC7B	22	50987578	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	117868	50987578	316988	1826	94938											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987635	50987635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccccgcttcggggctGcggtctctgcaccatgcaca	14	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chr22:50987635G>A	uc003bmi.2	+	1	1174	c.1040G>A	c.(1039-1041)TGC>TAC	p.C347Y		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	347	Kelch 1.									central_nervous_system(1)	1		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)		CTTCGGGGCTGCGGTCTCTGC	0.662													A	50987635	G	A	50987635	3	1	172	1	0	0	0	0	1	0	0	0	8361	1319	46	2	1042	2	KLHDC7B	22	50987635	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	57	50987635	316931	1827	94939											
ASMTL	8623	broad.mit.edu	37	chrX	1546952	1546952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacgttcagaaagtccCcgtgtacggactccaccagc	8	17	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:1546952C>T	uc004cpx.1	-	7	683	c.572G>A	c.(571-573)GGG>GAG	p.G191E	ASMTL_uc011mhe.1_Missense_Mutation_p.G115E|ASMTL_uc004cpy.1_Missense_Mutation_p.G175E|ASMTL_uc011mhf.1_Missense_Mutation_p.G133E	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	191	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		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)				CAGAAAGTCCCCGTGTACGGA	0.637													T	1546952	C	T	1546952	3	4	172	1	0	0	0	0	1	0	0	0	1046	623	22	4	1321	4	ASMTL	23	1546952	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08		1546952	153723608	1828	94940											
ASMTL	8623	broad.mit.edu	37	chrX	1561150	1561150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtacccatacggagtagCgaaggaggctttgtccagct	14	10	0	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:1561150C>T	uc004cpx.1	-	2	265	c.154G>A	c.(154-156)GCT>ACT	p.A52T	ASMTL_uc011mhe.1_5'UTR|ASMTL_uc004cpy.1_Missense_Mutation_p.A52T|ASMTL_uc011mhf.1_5'UTR	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	52	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		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)				TACGGAGTAGCGAAGGAGGCT	0.572													T	1561150	C	T	1561150	3	4	172	1	0	0	0	0	1	0	0	0	1046	768	27	1	1759	1	ASMTL	23	1561150	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	14198	1561150	153709410	1829	94941											
DHRSX	207063	broad.mit.edu	37	chrX	2343345	2343345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtcgtggggggaaaActgaaaaagaagaagagaaa	16	3	1	4			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:2343345A>G	uc004cqf.3	-	2	159	c.110T>C	c.(109-111)GTT>GCT	p.V37A		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	37							binding|oxidoreductase activity				0		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)				TGGGGGGAAAACTGAAAAAGA	0.458													G	2343345	A	G	2343345	3	3	172	1	0	0	0	0	1	0	0	0	4499	57	2	3	906	3	DHRSX	23	2343345	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	782195	2343345	152927215	1830	94942											
MXRA5	25878	broad.mit.edu	37	chrX	3248316	3248316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggagtagcctcagagacGttaagccgttgaaagcttga	12	7	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:3248316G>A	uc004crg.3	-	4	609	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	151						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTCAGAGACGTTAAGCCGTT	0.488													A	3248316	G	A	3248316	3	1	172	1	0	0	0	0	1	0	0	0	10003	1145	40	1	8050	1	MXRA5	23	3248316	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	904971	3248316	152022244	1831	94943											
RAI2	10742	broad.mit.edu	37	chrX	17819461	17819461	+	Frame_Shift_Del	DEL	G	G	-													gagggtggctggtgggaccaGgggggacaagggggagctaa							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:17819461delG	uc004cyf.2	-	3	1240	c.670delC	c.(670-672)CTGfs	p.L224fs	RAI2_uc004cyg.2_Frame_Shift_Del_p.L224fs|RAI2_uc010nfa.2_Frame_Shift_Del_p.L224fs|RAI2_uc004cyh.3_Frame_Shift_Del_p.L224fs|RAI2_uc011miy.1_Frame_Shift_Del_p.L174fs	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	224	Pro-rich.				embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)					GGTGGGACCAGGGGGGACAAG	0.627													-	17819461	G	-	17819461	7	5	172	1	0	1	0	1	0	0	0	0	13009	991	35	0	926	0	RAI2	23	17819461	Frame_Shift_Del	DEL	G	TCGA-CG-4442-01A-01D-1158-08	14571145	17819461	137451099	1832	94944											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999203	27999203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaataaaccttcacccatGctttcaagttcgacgtcttc	4	14	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:27999203G>A	uc004dbx.1	-	1	364	c.249C>T	c.(247-249)AGC>AGT	p.S83S		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	83	Glu-rich.									ovary(3)|skin(1)	4						CTTCACCCATGCTTTCAAGTT	0.358													A	27999203	G	A	27999203	2	1	172	1	0	0	0	0	0	0	0	1	4277	1310	46	2		2	DCAF8L1	23	27999203	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	10179742	27999203	127271357	1833	94945											
DMD	1756	broad.mit.edu	37	chrX	31222117	31222118	+	Frame_Shift_Ins	INS	-	-	C													cacttggctcaatgttactgINScccccaaaggatgcaacttc							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:31222117_31222118insC	uc004dda.1	-	67	10011_10012	c.9767_9768insG	c.(9766-9768)GGCfs	p.G3256fs	DMD_uc004dcq.1_Frame_Shift_Ins_p.G527fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dct.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.G1912fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.G1915fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.G3133fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.G3252fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.G3248fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dco.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.G188fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.G188fs|DMD_uc010ngm.2_Frame_Shift_Ins_p.G188fs	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3256	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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				CAATGTTACTGCCCCCAAAGGA	0.406													C	31222118	-	C	31222117	7	5	172	1	0	1	1	0	0	0	0	0	4580	1306	46	0	1431	0	DMD	23	31222117	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	3222914	31222117	124048443	1834	94946	473	2									
DMD	1756	broad.mit.edu	37	chrX	31222118	31222119	+	Frame_Shift_Ins	INS	-	-	C													acttggctcaatgttactgcINSccccaaaggatgcaacttca							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:31222117_31222118G>GC	uc004dda.1	-	66	10011_10012	c.9767_9768C>GC	c.(9766-9768)ggcfs	p.G3256fs	DMD_uc004dcq.1_Frame_Shift_Ins_p.G527fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dct.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.G796fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.G1912fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.G1915fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.G3133fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.G3252fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.G3248fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.G188fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.G188fs|DMD_uc004dco.1_Frame_Shift_Ins_p.G188fs|DMD_uc010ngm.3_Frame_Shift_Ins_p.G188fs	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3256	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)				CAATGTTACTGCCCCCAAAGGA	0.406													C	31222119	-	C	31222118	7	5	172	1	0	1	1	0	0	0	0	0	4580	739	26	0	1432	0	DMD	23	31222118	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	1	31222118	124048442	1835	94947	473	2									
FAM47A	158724	broad.mit.edu	37	chrX	34150286	34150286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgggtgggaacctcaggCgcctgtgcttgcacttcgcg	14	13	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:34150286C>T	uc004ddg.2	-	1	143	c.110G>A	c.(109-111)CGC>CAC	p.R37H		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	37										ovary(4)|central_nervous_system(1)	5						GAACCTCAGGCGCCTGTGCTT	0.592													T	34150286	C	T	34150286	3	4	172	1	0	0	0	0	1	0	0	0	5569	768	27	1	2269	1	FAM47A	23	34150286	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	2928168	34150286	121120274	1836	94948											
TMEM47	83604	broad.mit.edu	37	chrX	34657419	34657419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgccttcgagatcccacGcagatagaaatcaaacccac	6	14	1	3			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:34657419G>A	uc004ddh.2	-	2	571	c.312C>T	c.(310-312)TGC>TGT	p.C104C	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	104						integral to membrane				lung(1)	1						GAGATCCCACGCAGATAGAAA	0.433													A	34657419	G	A	34657419	2	1	172	1	0	0	0	0	0	0	0	1	16168	1079	38	1		1	TMEM47	23	34657419	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	507133	34657419	120613141	1837	94949											
BCOR	54880	broad.mit.edu	37	chrX	39931850	39931850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgggatcctcttgggTtttaccaaaagttacagcag	11	7	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:39931850T>C	uc004den.3	-	4	3041	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	BCOR_uc004dep.3_Missense_Mutation_p.T917A|BCOR_uc004deo.3_Missense_Mutation_p.T917A|BCOR_uc004dem.3_Missense_Mutation_p.T917A|BCOR_uc004deq.3_Missense_Mutation_p.T917A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	917					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						TCCTCTTGGGTTTTACCAAAA	0.527													C	39931850	T	C	39931850	3	2	172	1	0	0	0	0	1	0	0	0	1386	1725	60	3	2566	3	BCOR	23	39931850	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	5274431	39931850	115338710	1838	94950											
ARAF	369	broad.mit.edu	37	chrX	47430395	47430395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttccagcgggaggagcGgcccctcttcccccaggtgg	14	15	1	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:47430395G>A	uc011mlq.1	+	15	1803	c.1670G>A	c.(1669-1671)CGG>CAG	p.R557Q		NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	557	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	CGGGAGGAGCGGCCCCTCTTC	0.612													A	47430395	G	A	47430395	3	1	172	1	0	0	0	0	1	0	0	0	837	1116	39	1	1724	1	ARAF	23	47430395	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	7498545	47430395	107840165	1839	94951											
SLC38A5	92745	broad.mit.edu	37	chrX	48319469	48319469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcatcctgcgcttggaGggcctgaggtgtagaggtcg	17	10	0	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:48319469G>A	uc010nid.2	-	13	1033	c.855C>T	c.(853-855)CCC>CCT	p.P285P	SLC38A5_uc004djk.3_Silent_p.P234P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	285	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						TGCGCTTGGAGGGCCTGAGGT	0.597													A	48319469	G	A	48319469	2	1	172	1	0	0	0	0	0	0	0	1	14607	987	35	4		4	SLC38A5	23	48319469	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	889074	48319469	106951091	1840	94952											
TBC1D25	4943	broad.mit.edu	37	chrX	48417659	48417659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacacgtacctgaaccaCgagggccagctctcccgacc	8	17	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:48417659C>T	uc004dka.1	+	5	741	c.630C>T	c.(628-630)CAC>CAT	p.H210H	TBC1D25_uc011mly.1_Silent_p.H152H|TBC1D25_uc004dkb.1_Translation_Start_Site|TBC1D25_uc011mlz.1_Translation_Start_Site|TBC1D25_uc011mma.1_Translation_Start_Site|TBC1D25_uc004dkc.1_Translation_Start_Site|TBC1D25_uc011mmb.1_Silent_p.H214H|TBC1D25_uc011mmc.1_Translation_Start_Site|TBC1D25_uc011mmd.1_Translation_Start_Site	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	210						intracellular	Rab GTPase activator activity			ovary(1)	1						ACCTGAACCACGAGGGCCAGC	0.582													T	48417659	C	T	48417659	2	4	172	1	0	0	0	0	0	0	0	1	15612	535	19	1		1	TBC1D25	23	48417659	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	98190	48417659	106852901	1841	94953											
KDM5C	8242	broad.mit.edu	37	chrX	53226001	53226001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaccaacagtcctcgcaTgacagccaaggtgccccttc	9	17	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:53226001T>C	uc004drz.2	-	19	3381	c.2848A>G	c.(2848-2850)ATG>GTG	p.M950V	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.M883V|KDM5C_uc004dsa.2_Missense_Mutation_p.M949V	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	950					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			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						AGTCCTCGCATGACAGCCAAG	0.642			N|F|S		clear cell renal carcinoma								C	53226001	T	C	53226001	3	2	172	1	0	0	0	0	1	0	0	0	8135	1464	51	3	1964	3	KDM5C	23	53226001	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	4808342	53226001	102044559	1842	94954											
KDM5C	8242	broad.mit.edu	37	chrX	53230892	53230892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtatctccggagccggCggtagtgctcaatgcactgg	14	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:53230892C>T	uc004drz.2	-	14	2434	c.1901G>A	c.(1900-1902)CGC>CAC	p.R634H	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R567H|KDM5C_uc004dsa.2_Missense_Mutation_p.R633H	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	634	JmjC.				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			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CCGGAGCCGGCGGTAGTGCTC	0.587			N|F|S		clear cell renal carcinoma								T	53230892	C	T	53230892	3	4	172	1	0	0	0	0	1	0	0	0	8135	768	27	1	2931	1	KDM5C	23	53230892	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4891	53230892	102039668	1843	94955											
SMC1A	8243	broad.mit.edu	37	chrX	53440338	53440338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgactaatctcttcaaatagAgctgtcctctctttggggtt	8	10	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:53440338A>G	uc004dsg.2	-	4	528	c.459T>C	c.(457-459)GCT>GCC	p.A153A	SMC1A_uc011moe.1_Silent_p.A131A|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Silent_p.A19A	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	153					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			ovary(5)|central_nervous_system(1)	6						CTTCAAATAGAGCTGTCCTCT	0.483													G	53440338	A	G	53440338	2	3	172	1	0	0	0	0	0	0	0	1	14781	291	11	3		3	SMC1A	23	53440338	Silent	SNP	A	TCGA-CG-4442-01A-01D-1158-08	209446	53440338	101830222	1844	94956											
WNK3	65267	broad.mit.edu	37	chrX	54359575	54359575	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agattatatacctacctgcaGctcacaccaagcaacctcaa	4	14	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:54359575G>C	uc004dtd.1	-	2	971	c.532C>G	c.(532-534)CTG>GTG	p.L178V	WNK3_uc004dtc.1_Missense_Mutation_p.L178V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	178	Protein kinase.				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			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CCTACCTGCAGCTCACACCAA	0.373													C	54359575	G	C	54359575	3	2	172	1	0	0	0	0	1	0	0	0	17376	962	34	5	4962	5	WNK3	23	54359575	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	919237	54359575	100910985	1845	94957											
FOXR2	139628	broad.mit.edu	37	chrX	55650330	55650330	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccccagaaatgcctcagaaGaggagacccagtcctgatgg	11	13	1	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:55650330G>A	uc004duo.2	+	1	498	c.186G>A	c.(184-186)AAG>AAA	p.K62K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	62					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			lung(2)|central_nervous_system(1)	3						TGCCTCAGAAGAGGAGACCCA	0.537													A	55650330	G	A	55650330	2	1	172	1	0	0	0	0	0	0	0	1	6032	933	33	4		4	FOXR2	23	55650330	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1290755	55650330	99620230	1846	94958											
AWAT2	158835	broad.mit.edu	37	chrX	69261725	69261725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgctggtcaaacagtttaCgtagggcatcaatatagagt	10	6	2	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:69261725C>T	uc004dxt.1	-	7	941	c.935G>A	c.(934-936)CGT>CAT	p.R312H		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	312						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						AAACAGTTTACGTAGGGCATC	0.498													T	69261725	C	T	69261725	3	4	172	1	0	0	0	0	1	0	0	0	1235	536	19	1	70	1	AWAT2	23	69261725	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	13611395	69261725	86008835	1847	94959											
GLA	2717	broad.mit.edu	37	chrX	100653412	100653412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgattgatggcaattacGtccttatcctgaaggagagc	10	9	0	4	rs151208856	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:100653412G>A	uc004ehl.1	-	6	1055	c.945C>T	c.(943-945)GAC>GAT	p.D315D		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	315					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				0					Agalsidase beta(DB00103)	TGGCAATTACGTCCTTATCCT	0.458													A	100653412	G	A	100653412	2	1	172	1	0	0	0	0	0	0	0	1	6426	1136	40	1		1	GLA	23	100653412	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	31391687	100653412	54617148	1848	94960											
TMSB15B	286527	broad.mit.edu	37	chrX	103220136	103220136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggagaaagagtgtgTtcaaacatcataaaatgggg	12	6	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:103220136T>C	uc010noz.2	+	3	239	c.125T>C	c.(124-126)GTT>GCT	p.V42A	TMSB15B_uc004elo.3_RNA|TMSB15B_uc004elq.3_RNA	NM_194324	NP_919305	P0CG34	TB15A_HUMAN	thymosin beta15b	42					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						AAAGAGTGTGTTCAAACATCA	0.383													C	103220136	T	C	103220136	3	2	172	1	0	0	0	0	1	0	0	0	16253	1725	60	3	131	3	TMSB15B	23	103220136	Missense_Mutation	SNP	T	TCGA-CG-4442-01A-01D-1158-08	2566724	103220136	52050424	1849	94961											
ESX1	80712	broad.mit.edu	37	chrX	103495287	103495295	+	In_Frame_Del	DEL	GCGTGAGCC	GCGTGAGCC	-													ccgggtggcacaggcgccatGcgtgagccgggtggcacagg					rs144173947	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:103495286_103495294TGCGTGAGCC>T	uc004ely.3	-	3	905_913	c.836_844GGCTCACGCA>A	c.(835-846)ggctcacgcatg>gAtg	p.279_282GSRM>D		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	279	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	p.S280T(2)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACAGGCGCCATGCGTGAGCCGGGTGGCAC	0.718													-	103495295	GCGTGAGCC	-	103495287	7	5	172	1	0	1	0	1	0	0	0	0	5263	1306	46	0	381	0	ESX1	23	103495287	In_Frame_Del	DEL	GCGTGAGCC	TCGA-CG-4442-01A-01D-1158-08	275151	103495287	51775273	1850	94962											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999178	104999178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttatgtttaagacaacaaGgaatatgatgcctatctctc	6	8	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:104999178G>T	uc004elz.1	+	10	1956	c.1200G>T	c.(1198-1200)AAG>AAT	p.K400N		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	400	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						AAGACAACAAGGAATATGATG	0.383													T	104999178	G	T	104999178	3	4	172	1	0	0	0	0	1	0	0	0	7662	991	35	5	1234	5	IL1RAPL2	23	104999178	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1503891	104999178	50271382	1851	94963											
CXorf57	55086	broad.mit.edu	37	chrX	105905498	105905498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgatgattttaagagCgcccgaagccttggacattt	9	8	0	3	rs140805762	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:105905498C>T	uc004emi.3	+	12	2383	c.2232C>T	c.(2230-2232)AGC>AGT	p.S744S	CXorf57_uc004emj.3_Silent_p.S647S	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	744										ovary(1)|lung(1)|breast(1)	3						ATTTTAAGAGCGCCCGAAGCC	0.358													T	105905498	C	T	105905498	2	4	172	1	0	0	0	0	0	0	0	1	4113	767	27	1		1	CXorf57	23	105905498	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	906320	105905498	49365062	1852	94964											
CXorf57	55086	broad.mit.edu	37	chrX	105912413	105912413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaaccatgagatagcaAtcgatgttgctttcctaccc	8	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:105912413A>G	uc004emi.3	+	13	2441	c.2290A>G	c.(2290-2292)ATC>GTC	p.I764V	CXorf57_uc004emj.3_Missense_Mutation_p.I667V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	764										ovary(1)|lung(1)|breast(1)	3						TGAGATAGCAATCGATGTTGC	0.284													G	105912413	A	G	105912413	3	3	172	1	0	0	0	0	1	0	0	0	4113	101	4	3	2340	3	CXorf57	23	105912413	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	6915	105912413	49358147	1853	94965											
TSC22D3	1831	broad.mit.edu	37	chrX	106960004	106960004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgtgcagctggtagaccGccacctccatgggggtctga	13	11	1	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:106960004G>A	uc004eng.2	-	1	288	c.38C>T	c.(37-39)GCG>GTG	p.A13V	TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	13	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity				0						CTGGTAGACCGCCACCTCCAT	0.483													A	106960004	G	A	106960004	3	1	172	1	0	0	0	0	1	0	0	0	16606	1087	38	1	378	1	TSC22D3	23	106960004	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	1047591	106960004	48310556	1854	94966											
VSIG1	340547	broad.mit.edu	37	chrX	107319359	107319359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtagcctggtaggtgcCgccatcatcatctctgttgt	11	10	3	0	rs150102865	byFrequency	TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:107319359C>T	uc004eno.2	+	6	902	c.741C>T	c.(739-741)GCC>GCT	p.A247A	VSIG1_uc011msk.1_Silent_p.A283A	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	247	Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TGGTAGGTGCCGCCATCATCA	0.428													T	107319359	C	T	107319359	2	4	172	1	0	0	0	0	0	0	0	1	17219	639	23	1		1	VSIG1	23	107319359	Silent	SNP	C	TCGA-CG-4442-01A-01D-1158-08	359355	107319359	47951201	1855	94967											
HTR2C	3358	broad.mit.edu	37	chrX	114141262	114141262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttcttattgggtccttcGtagctttcttcataccgctg	8	11	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:114141262G>A	uc004epu.1	+	6	1389	c.661G>A	c.(661-663)GTA>ATA	p.V221I	HTR2C_uc010nqc.1_Missense_Mutation_p.V221I|HTR2C_uc004epv.1_Missense_Mutation_p.R189H	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	221	Helical; Name=5; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGGGTCCTTCGTAGCTTTCTT	0.493													A	114141262	G	A	114141262	3	1	172	1	0	0	0	0	1	0	0	0	7443	1145	40	1	675	1	HTR2C	23	114141262	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	6821903	114141262	41129298	1856	94968											
IL13RA2	3598	broad.mit.edu	37	chrX	114249138	114249138	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agattcttagtaatgatggtCtgtttgacaaaaagatgaga	10	3	2	5			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:114249138C>T	uc004epx.2	-	4	372	c.247_splice	c.e4-1	p.T83_splice	IL13RA2_uc010nqd.1_Splice_Site_p.T83_splice	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor							extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						TAATGATGGTCTGTTTGACAA	0.358													T	114249138	C	T	114249138	5	4	172	1	0	0	0	0	0	0	1	0	7630	927	32	4	924	4	IL13RA2	23	114249138	Splice_Site	SNP	C	TCGA-CG-4442-01A-01D-1158-08	107876	114249138	41021422	1857	94969											
STAG2	10735	broad.mit.edu	37	chrX	123179073	123179073	+	Frame_Shift_Del	DEL	T	T	-													tggaagaagttcaaatccagTttttgtgaattcattggcgt							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:123179073delT	uc004etz.3	+	7	861	c.522delT	c.(520-522)AGTfs	p.S174fs	STAG2_uc004eua.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eub.2_Frame_Shift_Del_p.S174fs|STAG2_uc004euc.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eud.2_Frame_Shift_Del_p.S174fs|STAG2_uc004eue.2_Frame_Shift_Del_p.S174fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	174					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TCAAATCCAGTTTTTGTGAAT	0.343													-	123179073	T	-	123179073	7	5	172	1	0	1	0	1	0	0	0	0	15242	1722	60	0	544	0	STAG2	23	123179073	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	8929935	123179073	32091487	1858	94970											
ZNF449	203523	broad.mit.edu	37	chrX	134494750	134494750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacaggtgaaaaacctcatAgatgtcataattgtgggaaa	9	5	2	2			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:134494750A>G	uc004eys.2	+	5	1471	c.1306A>G	c.(1306-1308)AGA>GGA	p.R436G	ZNF449_uc004eyt.2_Missense_Mutation_p.R316G|ZNF449_uc004eyu.2_Missense_Mutation_p.R242G	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	436	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACCTCATAGATGTCATAA	0.353													G	134494750	A	G	134494750	3	3	172	1	0	0	0	0	1	0	0	0	17917	412	15	3	1320	3	ZNF449	23	134494750	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	11315677	134494750	20775810	1859	94971											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314195	+	Frame_Shift_Ins	INS	-	-	G													aatacttccacattcacctgINSggggggtgcatccacacttg							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:135314193_135314194T>TG	uc004ezt.3	-	7	1143_1144	c.922_923A>CA	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Ins_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Ins_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Ins_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	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)					CACATTCACCTGGGGGGGTGCA	0.535													G	135314195	-	G	135314194	7	5	172	1	0	1	1	0	0	0	0	0	9269	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Ins	INS	-	TCGA-CG-4442-01A-01D-1158-08	819444	135314194	19956366	1860	94972											
ARHGEF6	9459	broad.mit.edu	37	chrX	135764121	135764121	+	Frame_Shift_Del	DEL	T	T	-													caccgttcctgctattggtaTttttccctattagaaaaaga							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:135764121delT	uc004fab.2	-	14	1948	c.1486delA	c.(1486-1488)ATAfs	p.I496fs	ARHGEF6_uc011mwd.1_Frame_Shift_Del_p.I369fs|ARHGEF6_uc011mwe.1_Frame_Shift_Del_p.I342fs	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	496	PH.				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				0	Acute lymphoblastic leukemia(192;0.000127)					GCTATTGGTATTTTTCCCTAT	0.353													-	135764121	T	-	135764121	7	5	172	1	0	1	0	1	0	0	0	0	910	1493	52	0	880	0	ARHGEF6	23	135764121	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	449927	135764121	19506439	1861	94973											
SPANXC	64663	broad.mit.edu	37	chrX	140336551	140336551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttggattcacaggggaCgctcctcttcaccccgccgg	11	16	3	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:140336551C>T	uc004fbk.2	-	1	96	c.40G>A	c.(40-42)GTC>ATC	p.V14I	SPANXC_uc004fbl.2_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	14						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					TCACAGGGGACGCTCCTCTTC	0.338													T	140336551	C	T	140336551	3	4	172	1	0	0	0	0	1	0	0	0	14987	536	19	1	261	1	SPANXC	23	140336551	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	4572430	140336551	14934009	1862	94974											
MAGEA4	4103	broad.mit.edu	37	chrX	151092878	151092878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagcccaggaaactgctcAcccaagattgggtgcaggaa	14	10	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:151092878A>G	uc004fez.2	+	3	898	c.742A>G	c.(742-744)ACC>GCC	p.T248A	MAGEA4_uc004ffa.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffb.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffc.2_Missense_Mutation_p.T248A|MAGEA4_uc004ffd.2_Missense_Mutation_p.T248A	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	248	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACTGCTCACCCAAGATTG	0.592													G	151092878	A	G	151092878	3	3	172	1	0	0	0	0	1	0	0	0	9168	159	6	3	744	3	MAGEA4	23	151092878	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	10756327	151092878	4177682	1863	94975											
PNMA3	29944	broad.mit.edu	37	chrX	152226568	152226568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccagggctaccggcgcCggaggggcagaggccaacac	15	15	0	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:152226568C>T	uc004fhc.2	+	2	1492	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	386	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCGGCGCCGGAGGGGCAG	0.622													T	152226568	C	T	152226568	3	4	172	1	0	0	0	0	1	0	0	0	12155	643	23	1	1158	1	PNMA3	23	152226568	Missense_Mutation	SNP	C	TCGA-CG-4442-01A-01D-1158-08	1133690	152226568	3043992	1864	94976											
ARHGAP4	393	broad.mit.edu	37	chrX	153175819	153175819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagcacacggccaggttGtaggggtccatcatgttctc	12	12	2	0			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:153175819G>A	uc004fjk.1	-	17	2004	c.1962C>T	c.(1960-1962)TAC>TAT	p.Y654Y	ARHGAP4_uc004fjj.1_Silent_p.Y5Y|ARHGAP4_uc011mzf.1_Silent_p.Y631Y|ARHGAP4_uc004fjl.1_Silent_p.Y694Y|ARHGAP4_uc010nup.1_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	654	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(1)	1	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)					CGGCCAGGTTGTAGGGGTCCA	0.682													A	153175819	G	A	153175819	2	1	172	1	0	0	0	0	0	0	0	1	885	1372	48	4		4	ARHGAP4	23	153175819	Silent	SNP	G	TCGA-CG-4442-01A-01D-1158-08	949251	153175819	2094741	1865	94977											
FLNA	2316	broad.mit.edu	37	chrX	153583313	153583313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcctcattctccaccacGtccacatccacctctgagcc	4	21	3	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:153583313G>T	uc004fkk.2	-	31	5346	c.5097C>A	c.(5095-5097)GAC>GAA	p.D1699E	FLNA_uc004fki.2_5'Flank|FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.D1691E	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1699	Filamin 15.				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)					TCTCCACCACGTCCACATCCA	0.597											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	153583313	G	T	153583313	3	4	172	1	0	0	0	0	1	0	0	0	5933	1136	40	5	2918	5	FLNA	23	153583313	Missense_Mutation	SNP	G	TCGA-CG-4442-01A-01D-1158-08	407494	153583313	1687247	1866	94978											
MPP1	4354	broad.mit.edu	37	chrX	154020457	154020457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaactgtatgagtcgcActttccgcacctcctgtccc	6	16	1	1			TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:154020457A>G	uc004fmp.1	-	2	321	c.206T>C	c.(205-207)GTG>GCG	p.V69A	MPP1_uc010nvg.1_Missense_Mutation_p.V69A|MPP1_uc011mzv.1_Missense_Mutation_p.V39A|MPP1_uc004fmq.1_Missense_Mutation_p.V23A|MPP1_uc011mzw.1_Intron|MPP1_uc010nvh.1_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	69					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)					TATGAGTCGCACTTTCCGCAC	0.557													G	154020457	A	G	154020457	3	3	172	1	0	0	0	0	1	0	0	0	9733	159	6	3	1238	3	MPP1	23	154020457	Missense_Mutation	SNP	A	TCGA-CG-4442-01A-01D-1158-08	437144	154020457	1250103	1867	94979											
F8	2157	broad.mit.edu	37	chrX	154091467	154091467	+	Frame_Shift_Del	DEL	T	T	-													ggagggttaaaaatattgtgTtttatcccagatgaatccac							TCGA-CG-4442-01A-01D-1158-08	TCGA-CG-4442-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c1bbf67-5d74-4404-a6bf-ba7f23de3c29	037b82de-70da-4122-a9b6-0180852a5545	g.chrX:154091467delT	uc004fmt.2	-	23	6636	c.6465delA	c.(6463-6465)AAAfs	p.K2155fs	F8_uc004fms.2_Frame_Shift_Del_p.K20fs	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2155	F5/8 type C 1.				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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	AAATATTGTGTTTTATCCCAG	0.398													-	154091467	T	-	154091467	7	5	172	1	0	1	0	1	0	0	0	0	5350	1722	60	0	606	0	F8	23	154091467	Frame_Shift_Del	DEL	T	TCGA-CG-4442-01A-01D-1158-08	71010	154091467	1179093	1868	94980											
MUL1	79594	broad.mit.edu	37	chr1	20827854	20827854	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atccacgccatcctcgtgggGcaccaggtcaaagggcactg	12	14	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:20827854G>C	uc001bdi.3	-	4	545	c.388C>G	c.(388-390)CCC>GCC	p.P130A		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	130	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TCCTCGTGGGGCACCAGGTCA	0.507													C	20827854	G	C	20827854	3	2	173	1	0	0	0	0	1	0	0	0	9984	1203	42	5	674	5	MUL1	1	20827854	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08		20827854	228422767	1	94981											
ZCCHC11	23318	broad.mit.edu	37	chr1	52891085	52891085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcatgaagttttgatgCaaaccataaggccacgaagc	10	8	0	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:52891085C>T	uc001ctx.2	-	29	5037	c.4803G>A	c.(4801-4803)TTG>TTA	p.L1601L	ZCCHC11_uc001cty.2_Silent_p.L1602L|ZCCHC11_uc001ctz.2_Silent_p.L1597L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1601					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AGTTTTGATGCAAACCATAAG	0.498													T	52891085	C	T	52891085	2	4	173	1	0	0	0	0	0	0	0	1	17577	709	25	2		2	ZCCHC11	1	52891085	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	32063231	52891085	196359536	2	94982											
TCHH	7062	broad.mit.edu	37	chr1	152080902	152080902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctgctgttcgtcctccatGaattttctctcttgttcctg	7	12	2	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:152080902G>A	uc001ezp.2	-	2	4791	c.4791C>T	c.(4789-4791)TTC>TTT	p.F1597F	TCHH_uc009wne.1_Silent_p.F1597F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1597	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCCTCCATGAATTTTCTCT	0.572													A	152080902	G	A	152080902	2	1	173	1	0	0	0	0	0	0	0	1	15697	1281	45	4		4	TCHH	1	152080902	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	99189817	152080902	97169719	3	94983											
OR6K6	128371	broad.mit.edu	37	chr1	158725605	158725605	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctattggaaggcttttccacTatcagaagagggctggttgg	13	7	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:158725605T>A	uc001fsw.1	+	1	1000	c.1000T>A	c.(1000-1002)TAT>AAT	p.Y334N		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	334	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					GCTTTTCCACTATCAGAAGAG	0.408													A	158725605	T	A	158725605	3	1	173	1	0	0	0	0	1	0	0	0	11204	1522	53	5	1002	5	OR6K6	1	158725605	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	6644703	158725605	90525016	4	94984											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179852066	179852066	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccgctacagccgtcTcctgttatgaccaggagagg	11	14	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:179852066T>A	uc001gnq.2	+	1	647	c.429T>A	c.(427-429)TCT>TCA	p.S143S	TOR1AIP1_uc001gnp.1_Silent_p.S143S	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	143	Nuclear (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						TACAGCCGTCTCCTGTTATGA	0.592													A	179852066	T	A	179852066	2	1	173	1	0	0	0	0	0	0	0	1	16369	1538	54	5		5	TOR1AIP1	1	179852066	Silent	SNP	T	TCGA-CG-4443-01A-01D-1158-08	21126461	179852066	69398555	5	94985											
DENND1B	163486	broad.mit.edu	37	chr1	197627492	197627492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaatacacttcaaaccaggGaaggtaactgtaaaataatt	7	6	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:197627492G>A	uc001guf.3	-	6	642	c.304C>T	c.(304-306)CCC>TCC	p.P102S	DENND1B_uc010ppe.1_Missense_Mutation_p.P102S|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.P92S|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	102	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TCAAACCAGGGAAGGTAACTG	0.244													A	197627492	G	A	197627492	3	1	173	1	0	0	0	0	1	0	0	0	4427	1174	41	4	2136	4	DENND1B	1	197627492	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	17775426	197627492	51623129	6	94986											
PIK3C2B	5287	broad.mit.edu	37	chr1	204424993	204424993	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgggctcacctggtagccCagatgatggggatgcggtgg	17	10	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:204424993C>G	uc001haw.2	-	12	2413	c.1934G>C	c.(1933-1935)TGG>TCG	p.W645S	PIK3C2B_uc010pqv.1_Missense_Mutation_p.W645S|PIK3C2B_uc001hax.1_Missense_Mutation_p.W645S|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	645					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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			CCTGGTAGCCCAGATGATGGG	0.597													G	204424993	C	G	204424993	3	3	173	1	0	0	0	0	1	0	0	0	11910	595	21	5	3062	5	PIK3C2B	1	204424993	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	6797501	204424993	44825628	7	94987											
OBSCN	84033	broad.mit.edu	37	chr1	228529881	228529881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgggtgagacagtcaaGctggcctgccgcgtgacggg	18	10	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:228529881G>T	uc009xez.1	+	75	18140	c.18096G>T	c.(18094-18096)AAG>AAT	p.K6032N	OBSCN_uc001hsn.2_Missense_Mutation_p.K6032N|OBSCN_uc001hsr.1_Missense_Mutation_p.K661N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6032	Ig-like 52.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGACAGTCAAGCTGGCCTGCC	0.647													T	228529881	G	T	228529881	3	4	173	1	0	0	0	0	1	0	0	0	10812	962	34	5	18390	5	OBSCN	1	228529881	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	24104888	228529881	20720740	8	94988											
NUP133	55746	broad.mit.edu	37	chr1	229601204	229601204	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttctttttctagtgaTtcttctcttctatacaaaga	5	8	6	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:229601204T>C	uc001htn.2	-	17	2354	c.2262A>G	c.(2260-2262)GAA>GAG	p.E754E		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	754					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			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCTAGTGATTCTTCTCTTC	0.323													C	229601204	T	C	229601204	2	2	173	1	0	0	0	0	0	0	0	1	10754	1490	52	3		3	NUP133	1	229601204	Silent	SNP	T	TCGA-CG-4443-01A-01D-1158-08	1071323	229601204	19649417	9	94989											
NID1	4811	broad.mit.edu	37	chr1	236208770	236208770	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcatacttggccaaattttCaactgattccctgtcattag	6	10	2	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr1:236208770C>T	uc001hxo.2	-	3	841	c.739G>A	c.(739-741)GAA>AAA	p.E247K	NID1_uc009xgd.2_Missense_Mutation_p.E247K	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	247	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	GCCAAATTTTCAACTGATTCC	0.358													T	236208770	C	T	236208770	3	4	173	1	0	0	0	0	1	0	0	0	10414	835	29	4	3076	4	NID1	1	236208770	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	6607566	236208770	13041851	10	94990											
THNSL2	55258	broad.mit.edu	37	chr2	88474331	88474331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcctggagaagagggagAagcacgtcactgtggttgta	14	7	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr2:88474331A>G	uc002ssz.3	+	3	550	c.397A>G	c.(397-399)AAG>GAG	p.K133E	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.K133E|THNSL2_uc002ssx.3_Missense_Mutation_p.K101E|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.K133E|THNSL2_uc010fhe.2_5'UTR	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	133					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						GAAGAGGGAGAAGCACGTCAC	0.507													G	88474331	A	G	88474331	3	3	173	1	0	0	0	0	1	0	0	0	15860	247	9	3	403	3	THNSL2	2	88474331	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08		88474331	154725042	11	94991											
RANBP2	5903	broad.mit.edu	37	chr2	109381382	109381382	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catttaaatttggccagggaGatcttcctaaacctattaac	6	9	1	1	rs138483682		TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr2:109381382G>A	uc002tem.3	+	20	4513	c.4387G>A	c.(4387-4389)GAT>AAT	p.D1463N		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1463					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGGCCAGGGAGATCTTCCTAA	0.393													A	109381382	G	A	109381382	3	1	173	1	0	0	0	0	1	0	0	0	13028	942	33	4	4465	4	RANBP2	2	109381382	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	20907051	109381382	133817991	12	94992											
EDAR	10913	broad.mit.edu	37	chr2	109522783	109522783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccacgactccacacacGttggcatacacatcgaggat	7	15	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr2:109522783G>A	uc002teq.3	-	11	1436	c.1005C>T	c.(1003-1005)AAC>AAT	p.N335N	EDAR_uc010fjn.2_Silent_p.N367N|EDAR_uc010yws.1_Silent_p.N367N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	335	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CTCCACACACGTTGGCATACA	0.532													A	109522783	G	A	109522783	2	1	173	1	0	0	0	0	0	0	0	1	4905	1136	40	1		1	EDAR	2	109522783	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	141401	109522783	133676590	13	94993											
FOXD4L1	200350	broad.mit.edu	37	chr2	114256849	114256861	+	Frame_Shift_Del	DEL	GCTGAGCGCCCTC	GCTGAGCGCCCTC	-													ccgccatgaacctgccaagaGctgagcgccctcgctccaca							TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr2:114256848_114256860AGCTGAGCGCCCTC>A	uc002tjw.4	+	0	188_200	c.15_27AGCTGAGCGCCCTC>A	c.(13-27)agagctgagcgccctfs	p.R5fs		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	5					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	p.P9L(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						ACCTGCCAAGAGCTGAGCGCCCTCGCTCCACAC	0.638													-	114256861	GCTGAGCGCCCTC	-	114256849	7	5	173	1	0	1	0	1	0	0	0	0	6000	971	34	0	18	0	FOXD4L1	2	114256849	Frame_Shift_Del	DEL	GCTGAGCGCCCTC	TCGA-CG-4443-01A-01D-1158-08	4734066	114256849	128942524	14	94994											
DIS3L2	129563	broad.mit.edu	37	chr2	233103275	233103275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagttcacattgctgacGtgagttactttgttccggag	13	7	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr2:233103275G>A	uc010fxz.2	+	11	1513	c.1237G>A	c.(1237-1239)GTG>ATG	p.V413M	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	413							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		CATTGCTGACGTGAGTTACTT	0.488													A	233103275	G	A	233103275	3	1	173	1	0	0	0	0	1	0	0	0	4537	1145	40	1	1275	1	DIS3L2	2	233103275	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	118846426	233103275	10096098	15	94995											
ALPP	250	broad.mit.edu	37	chr2	233244575	233244575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtactcggacgccgacGtgcctgcctccgcccgccag	12	18	0	0	rs148017705	byFrequency	TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr2:233244575G>A	uc002vsq.2	+	5	751	c.586G>A	c.(586-588)GTG>ATG	p.V196M	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	196						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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)		GGACGCCGACGTGCCTGCCTC	0.662													A	233244575	G	A	233244575	3	1	173	1	0	0	0	0	1	0	0	0	548	1145	40	1	604	1	ALPP	2	233244575	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	141300	233244575	9954798	16	94996											
HDAC4	9759	broad.mit.edu	37	chr2	240033331	240033331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggccgccgaaggacacGgggatgccggcggcctccat	16	14	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr2:240033331G>A	uc002vyk.3	-	14	2646	c.1854C>T	c.(1852-1854)CCC>CCT	p.P618P	HDAC4_uc010fyz.1_Silent_p.P613P|HDAC4_uc010zoa.1_Silent_p.P618P|HDAC4_uc010fza.2_Silent_p.P623P|HDAC4_uc010fyy.2_Silent_p.P575P|HDAC4_uc010znz.1_Silent_p.P501P	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	618					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			breast(3)|skin(2)|ovary(1)	6		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)		CGAAGGACACGGGGATGCCGG	0.692													A	240033331	G	A	240033331	2	1	173	1	0	0	0	0	0	0	0	1	7009	1103	39	1		1	HDAC4	2	240033331	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	6788756	240033331	3166042	17	94997											
SLC6A11	6538	broad.mit.edu	37	chr3	10976881	10976881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacggaggggacactgcCcgaggtgagaccgccccagg	17	12	0	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:10976881C>T	uc003bvz.2	+	13	1776	c.1742C>T	c.(1741-1743)CCC>CTC	p.P581L		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	581	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGGACACTGCCCGAGGTGAGA	0.652													T	10976881	C	T	10976881	3	4	173	1	0	0	0	0	1	0	0	0	14674	623	22	4	1792	4	SLC6A11	3	10976881	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08		10976881	187045549	18	94998											
HHATL	57467	broad.mit.edu	37	chr3	42738538	42738538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcacttgggaggctggGgtgggtccaggtggtcgagg	21	6	0	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:42738538G>T	uc003clw.2	-	9	1112	c.965C>A	c.(964-966)CCC>CAC	p.P322H	HHATL_uc003clx.2_Missense_Mutation_p.P322H	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	322					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGGAGGCTGGGGTGGGTCCAG	0.612													T	42738538	G	T	42738538	3	4	173	1	0	0	0	0	1	0	0	0	7090	1232	43	5	569	5	HHATL	3	42738538	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	31761657	42738538	155283892	19	94999											
SCAP	22937	broad.mit.edu	37	chr3	47462450	47462450	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgaatgtcaatggacaggaCagtggtgaaaaacagcatct	12	7	2	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:47462450C>G	uc003crh.1	-	11	1570	c.1315G>C	c.(1315-1317)GTC>CTC	p.V439L	SCAP_uc011baz.1_Missense_Mutation_p.V184L|SCAP_uc003crg.2_Missense_Mutation_p.V47L	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	439	SSD.|Helical; Name=6; (Potential).				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ATGGACAGGACAGTGGTGAAA	0.587											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	47462450	C	G	47462450	3	3	173	1	0	0	0	0	1	0	0	0	13877	478	17	5	2576	5	SCAP	3	47462450	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	4723912	47462450	150559980	20	95000											
GOLGB1	2804	broad.mit.edu	37	chr3	121416746	121416746	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttatttcaagttccttcTgtgaaagagcctgggacagt	10	7	2	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:121416746T>G	uc003eei.3	-	13	2735	c.2609A>C	c.(2608-2610)CAG>CCG	p.Q870P	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q875P|GOLGB1_uc003eej.3_Missense_Mutation_p.Q836P|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q756P|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q834P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	870	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AAGTTCCTTCTGTGAAAGAGC	0.433													G	121416746	T	G	121416746	3	3	173	1	0	0	0	0	1	0	0	0	6565	1580	55	5	7210	5	GOLGB1	3	121416746	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	73954296	121416746	76605684	21	95001											
PLOD2	5352	broad.mit.edu	37	chr3	145838987	145838987	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactttctggccccctccaaTactattaattccatcaccac	2	17	2	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:145838987T>A	uc003evs.1	-	3	756	c.250A>T	c.(250-252)ATT>TTT	p.I84F	PLOD2_uc011bnm.1_Missense_Mutation_p.I29F|PLOD2_uc003evr.1_Missense_Mutation_p.I84F	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	84					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	CCCCCTCCAATACTATTAATT	0.378													A	145838987	T	A	145838987	3	1	173	1	0	0	0	0	1	0	0	0	12102	1406	49	5	2098	5	PLOD2	3	145838987	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	24422241	145838987	52183443	22	95002											
C3orf55	152078	broad.mit.edu	37	chr3	157271104	157271104	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaagcactgatacgtccGgagagcacttgacctgcctt	9	13	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:157271104G>T	uc003fbp.3	+	2	226	c.58G>T	c.(58-60)GGA>TGA	p.G20*	C3orf55_uc011bos.1_RNA|C3orf55_uc003fbo.2_Nonsense_Mutation_p.G20*|C3orf55_uc011bot.1_RNA|C3orf55_uc010hvv.2_Nonsense_Mutation_p.G20*	NM_001130002	NP_001123474	A1A4F0	CC055_HUMAN	hypothetical protein LOC152078 isoform 1	20											0			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			TGATACGTCCGGAGAGCACTT	0.289													T	157271104	G	T	157271104	4	4	173	1	0	0	0	0	0	1	0	0	2234	1117	39	5	60	5	C3orf55	3	157271104	Nonsense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	11432117	157271104	40751326	23	95003											
HRG	3273	broad.mit.edu	37	chr3	186395370	186395370	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaccccataaccaaggtCactgttgccatggccacggc	8	17	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:186395370C>T	uc003fqq.2	+	7	1299	c.1276C>T	c.(1276-1278)CAC>TAC	p.H426Y		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	426	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TAACCAAGGTCACTGTTGCCA	0.408													T	186395370	C	T	186395370	3	4	173	1	0	0	0	0	1	0	0	0	7354	826	29	4	1302	4	HRG	3	186395370	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	29124266	186395370	11627060	24	95004											
TP63	8626	broad.mit.edu	37	chr3	189584511	189584511	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttgattcgagtagagggGaacagccatgcccagtatgt	12	8	0	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr3:189584511G>A	uc003fry.2	+	6	896	c.807G>A	c.(805-807)GGG>GGA	p.G269G	TP63_uc003frx.2_Silent_p.G269G|TP63_uc003frz.2_Silent_p.G269G|TP63_uc010hzc.1_Silent_p.G269G|TP63_uc003fsa.2_Silent_p.G175G|TP63_uc003fsb.2_Silent_p.G175G|TP63_uc003fsc.2_Silent_p.G175G|TP63_uc003fsd.2_Silent_p.G175G|TP63_uc010hzd.1_Silent_p.G90G|TP63_uc003fse.1_Silent_p.G150G	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	269					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G269V(1)		skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGTAGAGGGGAACAGCCATG	0.408									Hay-Wells_syndrome	HNSCC(45;0.13)			A	189584511	G	A	189584511	2	1	173	1	0	0	0	0	0	0	0	1	16389	1161	41	4		4	TP63	3	189584511	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	3189141	189584511	8437919	25	95005											
GPR78	27201	broad.mit.edu	37	chr4	8583111	8583111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgcctggggacagtcGctggccttctcaggcgctgc	16	13	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr4:8583111G>A	uc003glk.2	+	1	821	c.402G>A	c.(400-402)TCG>TCA	p.S134S	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	134	Helical; Name=4; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GGGGACAGTCGCTGGCCTTCT	0.711													A	8583111	G	A	8583111	2	1	173	1	0	0	0	0	0	0	0	1	6710	1074	38	1		1	GPR78	4	8583111	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08		8583111	182571165	26	95006											
ATP10D	57205	broad.mit.edu	37	chr4	47559779	47559779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagatcaagttctccatcGcttaacagtgggaaagagcc	10	10	2	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr4:47559779G>A	uc003gxk.1	+	12	2087	c.1923G>A	c.(1921-1923)TCG>TCA	p.S641S	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	641	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						GTTCTCCATCGCTTAACAGTG	0.478													A	47559779	G	A	47559779	2	1	173	1	0	0	0	0	0	0	0	1	1118	1074	38	1		1	ATP10D	4	47559779	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	38976668	47559779	143594497	27	95007											
ADH1B	125	broad.mit.edu	37	chr4	100237113	100237113	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccacagccaatgaggcagActttctccaggggcgaggct	12	12	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr4:100237113A>C	uc003hus.3	-	5	593	c.509T>G	c.(508-510)GTC>GGC	p.V170G	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.V130G|ADH1B_uc011ceh.1_Missense_Mutation_p.V15G|ADH1B_uc011cei.1_Missense_Mutation_p.V130G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	170					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AATGAGGCAGACTTTCTCCAG	0.512													C	100237113	A	C	100237113	3	2	173	1	0	0	0	0	1	0	0	0	308	275	10	5	638	5	ADH1B	4	100237113	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	52677334	100237113	90917163	28	95008											
NDUFS6	4726	broad.mit.edu	37	chr5	1815967	1815967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttttgaattttttcaggaCaaagaaacaaaaaccggcac	6	9	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:1815967C>G	uc003jcy.2	+	4	335	c.312C>G	c.(310-312)GAC>GAG	p.D104E		NM_004553	NP_004544	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6,	104					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1					NADH(DB00157)	TTTTTCAGGACAAAGAAACAA	0.433													G	1815967	C	G	1815967	3	3	173	1	0	0	0	0	1	0	0	0	10296	477	17	5	326	5	NDUFS6	5	1815967	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08		1815967	179099293	29	95009											
IRX1	79192	broad.mit.edu	37	chr5	3600109	3600109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacgggccctccgccggGgcgccgctgcaacaccccgc	14	21	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:3600109G>A	uc003jde.2	+	2	1099	c.1047G>A	c.(1045-1047)GGG>GGA	p.G349G		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						cctccgccggggcgccgcTGC	0.498													A	3600109	G	A	3600109	2	1	173	1	0	0	0	0	0	0	0	1	7843	1219	43	4		4	IRX1	5	3600109	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	1784142	3600109	177315151	30	95010											
SEMA5A	9037	broad.mit.edu	37	chr5	9063157	9063157	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accacgacgtccaggctgacCaagccccgttgaccgtgtgg	12	15	0	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:9063157C>G	uc003jek.2	-	18	3072	c.2360G>C	c.(2359-2361)TGG>TCG	p.W787S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	787	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCAGGCTGACCAAGCCCCGTT	0.572													G	9063157	C	G	9063157	3	3	173	1	0	0	0	0	1	0	0	0	14037	595	21	5	888	5	SEMA5A	5	9063157	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	5463048	9063157	171852103	31	95011											
CDH12	1010	broad.mit.edu	37	chr5	21755822	21755822	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagagtcacatctacagactCgaatagtcattgtgtttgtg	9	8	3	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:21755822C>G	uc010iuc.2	-	11	2221	c.1763G>C	c.(1762-1764)CGA>CCA	p.R588P	CDH12_uc011cno.1_Missense_Mutation_p.R548P|CDH12_uc003jgk.2_Missense_Mutation_p.R588P|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	588	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCTACAGACTCGAATAGTCAT	0.458										HNSCC(59;0.17)			G	21755822	C	G	21755822	3	3	173	1	0	0	0	0	1	0	0	0	3098	884	31	5	629	5	CDH12	5	21755822	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	12692665	21755822	159159438	32	95012											
HEATR7B2	133558	broad.mit.edu	37	chr5	41047834	41047834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccttacctgaagcagcaTggtttcccatagaacggtac	9	12	0	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:41047834T>C	uc003jmj.3	-	17	2207	c.1717A>G	c.(1717-1719)ATG>GTG	p.M573V	HEATR7B2_uc003jmi.3_Missense_Mutation_p.M128V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	573	HEAT 7.						binding			ovary(6)|central_nervous_system(2)	8						TGAAGCAGCATGGTTTCCCAT	0.373													C	41047834	T	C	41047834	3	2	173	1	0	0	0	0	1	0	0	0	7035	1464	51	3	3144	3	HEATR7B2	5	41047834	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	19292012	41047834	139867426	33	95013											
TRPC7	57113	broad.mit.edu	37	chr5	135610444	135610444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccaggaatttcacagCgatagactgttgacgtaagc	11	9	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:135610444C>T	uc003lbn.1	-	3	1045	c.1042G>A	c.(1042-1044)GCT>ACT	p.A348T	TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A279T|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	349	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATTTCACAGCGATAGACTGT	0.443													T	135610444	C	T	135610444	3	4	173	1	0	0	0	0	1	0	0	0	16581	768	27	1	1579	1	TRPC7	5	135610444	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	94562610	135610444	45304816	34	95014											
CDHR2	54825	broad.mit.edu	37	chr5	176022630	176022630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagtggacagctggaggGgccatcctacaccaacgctg	13	13	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:176022630G>A	uc003mem.1	+	32	3956	c.3890G>A	c.(3889-3891)GGG>GAG	p.G1297E	CDHR2_uc003men.1_Missense_Mutation_p.G1297E	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1297	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CAGCTGGAGGGGCCATCCTAC	0.642													A	176022630	G	A	176022630	3	1	173	1	0	0	0	0	1	0	0	0	3119	1232	43	4	4012	4	CDHR2	5	176022630	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	40412186	176022630	4892630	35	95015											
FLT4	2324	broad.mit.edu	37	chr5	180057715	180057715	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctcgcagtctcgcacCacccccgtgtcctcgctgtc	9	20	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr5:180057715C>A	uc003mma.3	-	3	319	c.240G>T	c.(238-240)GTG>GTT	p.V80V	FLT4_uc003mlz.3_Silent_p.V80V|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.V80V|FLT4_uc011dgz.1_Silent_p.V80V|FLT4_uc011dha.1_Silent_p.V80V	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	80	Ig-like C2-type 1.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	AGTCTCGCACCACCCCCGTGT	0.647									Congenital_Hereditary_Lymphedema				A	180057715	C	A	180057715	2	1	173	1	0	0	0	0	0	0	0	1	5944	581	21	5		5	FLT4	5	180057715	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	4035085	180057715	857545	36	95016											
GPR116	221395	broad.mit.edu	37	chr6	46825952	46825953	+	Missense_Mutation	DNP	GG	GG	TT													gagaccaaaaccccaagtgaGgcccaagagtggtgtgagga							TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr6:46825952_46825953GG>TT	uc003oyo.3	-	17	3976_3977	c.3687_3688CC>AA	c.(3685-3690)GGCCTC>GGAATC	p.L1230I	GPR116_uc011dwj.1_Missense_Mutation_p.L785I|GPR116_uc011dwk.1_Missense_Mutation_p.L659I|GPR116_uc003oyp.3_Missense_Mutation_p.L1088I|GPR116_uc003oyq.3_Missense_Mutation_p.L1230I|GPR116_uc010jzi.1_Missense_Mutation_p.L902I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1230	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CCCCAAGTGAGGCCCAAGAGTG	0.505													TT	46825953	GG	TT	46825952	3	4	173	1	0	0	0	0	1	0	0	0	6633	1000	35	5	372	5	GPR116	6	46825952	Missense_Mutation	DNP	GG	TCGA-CG-4443-01A-01D-1158-08		46825952	124289115	37	95017											
EPB41L2	2037	broad.mit.edu	37	chr6	131206403	131206410	+	Splice_Site	DEL	TCGGAGCT	TCGGAGCT	-													actttggtccatgacaccaaTcggagctagtaaagagtgac					rs76682195	byFrequency	TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr6:131206403_131206410delTCGGAGCT	uc003qch.2	-	12	1843	c.1661_splice	c.e12-1	p.A554_splice	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Splice_Site_p.A554_splice|EPB41L2_uc011eby.1_Splice_Site_p.A554_splice|EPB41L2_uc003qci.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfk.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfl.1_Splice_Site_p.A554_splice	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGACACCAATCGGAGCTAGTAAAGAGT	0.413											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	131206410	TCGGAGCT	-	131206403	8	5	173	1	0	1	0	1	0	0	1	0	5153	1435	50	0	1383	0	EPB41L2	6	131206403	Splice_Site	DEL	TCGGAGCT	TCGA-CG-4443-01A-01D-1158-08	84380451	131206403	39908664	38	95018											
LATS1	9113	broad.mit.edu	37	chr6	150004716	150004716	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtagctctggttttaaTacacgcatacttttcacagg	8	9	3	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr6:150004716T>C	uc003qmu.1	-	4	2057	c.1509A>G	c.(1507-1509)GTA>GTG	p.V503V	LATS1_uc010kif.1_Silent_p.V398V|LATS1_uc003qmv.1_Silent_p.V503V|LATS1_uc003qmw.2_Silent_p.V503V|LATS1_uc010kig.1_Silent_p.V398V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	503					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTGGTTTTAATACACGCATAC	0.453													C	150004716	T	C	150004716	2	2	173	1	0	0	0	0	0	0	0	1	8646	1393	49	3		3	LATS1	6	150004716	Silent	SNP	T	TCGA-CG-4443-01A-01D-1158-08	18798313	150004716	21110351	39	95019											
PKD1L1	168507	broad.mit.edu	37	chr7	47874786	47874786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggagaagccaggaggGtacacaggagacccaccctg	13	14	0	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr7:47874786G>A	uc003tny.1	-	38	5999	c.5999C>T	c.(5998-6000)ACC>ATC	p.T2000I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2000	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGCCAGGAGGGTACACAGGAG	0.582													A	47874786	G	A	47874786	3	1	173	1	0	0	0	0	1	0	0	0	11964	1261	44	4	2630	4	PKD1L1	7	47874786	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08		47874786	111263877	40	95020											
DMTF1	9988	broad.mit.edu	37	chr7	86824010	86824010	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttatttagggtttagagtCtcccactatagaagaacaag	9	6	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr7:86824010C>A	uc003uih.2	+	17	2365	c.2039C>A	c.(2038-2040)TCT>TAT	p.S680Y	DMTF1_uc003uii.2_Missense_Mutation_p.S414Y|DMTF1_uc003uij.2_Missense_Mutation_p.S414Y|DMTF1_uc011khb.1_Missense_Mutation_p.S592Y|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.S680Y|DMTF1_uc003uin.2_Missense_Mutation_p.S414Y	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	680	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					GGTTTAGAGTCTCCCACTATA	0.313													A	86824010	C	A	86824010	3	1	173	1	0	0	0	0	1	0	0	0	4592	913	32	5	2097	5	DMTF1	7	86824010	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	38949224	86824010	72314653	41	95021											
CNPY4	245812	broad.mit.edu	37	chr7	99722428	99722436	+	In_Frame_Del	DEL	GAGGAGGAA	GAGGAGGAA	-													gggaggaagagcaggaggagGaggaggaagaggaggaagag					rs76794533		TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr7:99722427_99722435GGAGGAGGAA>G	uc003uto.3	+	5	766_774	c.663_671GGAGGAGGAA>G	c.(661-672)gaggaggaggaa>gaGa	p.221_224EEEE>E	MBLAC1_uc003utp.3_5'Flank|MBLAC1_uc022aig.1_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	221	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)					agcaggaggaggaggaggaagaggaggaa	0.522													-	99722436	GAGGAGGAA	-	99722428	7	5	173	1	0	1	0	1	0	0	0	0	3630	1175	41	0	686	0	CNPY4	7	99722428	In_Frame_Del	DEL	GAGGAGGAA	TCGA-CG-4443-01A-01D-1158-08	12898418	99722428	59416235	42	95022											
GCC1	79571	broad.mit.edu	37	chr7	127222544	127222544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacccacaggacttctgcGtcctggcagcccagaggcca	10	17	1	1	rs34883586	byFrequency	TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr7:127222544G>A	uc003vma.2	-	2	2270	c.1852C>T	c.(1852-1854)CGC>TGC	p.R618C		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	618	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						GGACTTCTGCGTCCTGGCAGC	0.607													A	127222544	G	A	127222544	3	1	173	1	0	0	0	0	1	0	0	0	6285	1145	40	1	479	1	GCC1	7	127222544	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	27500116	127222544	31916119	43	95023											
ASH2L	9070	broad.mit.edu	37	chr8	37964667	37964667	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatggttcacggctgacacAtttggcatagatacctcgtg	10	9	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr8:37964667A>T	uc003xkt.3	+	3	442	c.384A>T	c.(382-384)ACA>ACT	p.T128T	ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Silent_p.T34T|ASH2L_uc010lwa.2_Silent_p.T34T	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	128	C4-type.				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			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CGGCTGACACATTTGGCATAG	0.438													T	37964667	A	T	37964667	2	4	173	1	0	0	0	0	0	0	0	1	1042	204	8	5		5	ASH2L	8	37964667	Silent	SNP	A	TCGA-CG-4443-01A-01D-1158-08		37964667	108399355	44	95024											
PDE7A	5150	broad.mit.edu	37	chr8	66639406	66639415	+	Frame_Shift_Del	DEL	TTGTATAAAG	TTGTATAAAG	-													atgataaaattgcactaaccTtgtataaagttgccaagtaa							TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr8:66639406_66639415delTTGTATAAAG	uc003xvq.2	-	8	830_839	c.818_827delCTTTATACAA	c.(817-828)ACTTTATACAAGfs	p.T273fs	PDE7A_uc003xvr.2_Frame_Shift_Del_p.T273fs|PDE7A_uc003xvp.2_Frame_Shift_Del_p.T247fs	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	273_276	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			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)	TGCACTAACCTTGTATAAAGTTGCCAAGTA	0.305													-	66639415	TTGTATAAAG	-	66639406	7	5	173	1	0	1	0	1	0	0	0	0	11651	1623	56	0	677	0	PDE7A	8	66639406	Frame_Shift_Del	DEL	TTGTATAAAG	TCGA-CG-4443-01A-01D-1158-08	28674739	66639406	79724616	45	95025											
MMP16	4325	broad.mit.edu	37	chr8	89339413	89339413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaatccaaccgtcttccaGtgctgaatgtgagtaagatc	9	10	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr8:89339413G>A	uc003yeb.3	-	1	305	c.23C>T	c.(22-24)ACT>ATT	p.T8I	MMP16_uc003yec.2_Missense_Mutation_p.T8I	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	8					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CCGTCTTCCAGTGCTGAATGT	0.393													A	89339413	G	A	89339413	3	1	173	1	0	0	0	0	1	0	0	0	9655	1029	36	4	1996	4	MMP16	8	89339413	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	22700007	89339413	57024609	46	95026											
PLEC	5339	broad.mit.edu	37	chr8	145004159	145004159	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcgaaggctctgccagGccagaaggctcttcatgtcc	13	14	3	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr8:145004159G>C	uc003zaf.1	-	22	3265	c.3095C>G	c.(3094-3096)GCC>GGC	p.A1032G	PLEC_uc003zab.1_Missense_Mutation_p.A895G|PLEC_uc003zac.1_Missense_Mutation_p.A899G|PLEC_uc003zad.2_Missense_Mutation_p.A895G|PLEC_uc003zae.1_Missense_Mutation_p.A863G|PLEC_uc003zag.1_Missense_Mutation_p.A873G|PLEC_uc003zah.2_Missense_Mutation_p.A881G|PLEC_uc003zaj.2_Missense_Mutation_p.A922G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1032	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTCTGCCAGGCCAGAAGGCT	0.692													C	145004159	G	C	145004159	3	2	173	1	0	0	0	0	1	0	0	0	12052	1203	42	5	11003	5	PLEC	8	145004159	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	55664746	145004159	1359863	47	95027											
SIT1	27240	broad.mit.edu	37	chr9	35650807	35650807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggctgcagatgtgagaGtccacaagcacactgctctg	11	11	2	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:35650807G>A	uc003zxe.1	-	1	141	c.44C>T	c.(43-45)ACT>ATT	p.T15I	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	15					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGATGTGAGAGTCCACAAGCA	0.627													A	35650807	G	A	35650807	3	1	173	1	0	0	0	0	1	0	0	0	14344	1029	36	4	566	4	SIT1	9	35650807	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08		35650807	105562624	48	95028											
RGP1	9827	broad.mit.edu	37	chr9	35751395	35751395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acgcctaatggctgccacatCctgccgcagcctccgtgaga	10	16	0	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:35751395C>A	uc011lpf.1	+	6	761	c.620C>A	c.(619-621)TCC>TAC	p.S207Y	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.S247Y	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	207										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCCACATCCTGCCGCAGC	0.532													A	35751395	C	A	35751395	3	1	173	1	0	0	0	0	1	0	0	0	13284	855	30	5	766	5	RGP1	9	35751395	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	100588	35751395	105462036	49	95029											
TMEM2	23670	broad.mit.edu	37	chr9	74340545	74340545	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taaaatatacccaatggagtGagttctggttttgccaagag	10	6	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:74340545G>C	uc011lsa.1	-	11	2670	c.2130C>G	c.(2128-2130)CTC>CTG	p.L710L	TMEM2_uc010mos.2_Silent_p.L647L|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	710						integral to membrane				ovary(2)	2		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)		CCAATGGAGTGAGTTCTGGTT	0.378													C	74340545	G	C	74340545	2	2	173	1	0	0	0	0	0	0	0	1	16118	1277	45	5		5	TMEM2	9	74340545	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	38589150	74340545	66872886	50	95030											
GAPVD1	26130	broad.mit.edu	37	chr9	128094285	128094285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtagcacatctgatgatacgGatgtcagggaggtcagttcc	13	8	3	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:128094285G>C	uc010mwx.2	+	14	2580	c.2254G>C	c.(2254-2256)GAT>CAT	p.D752H	GAPVD1_uc011lzs.1_Missense_Mutation_p.D752H|GAPVD1_uc004bpp.2_Missense_Mutation_p.D752H|GAPVD1_uc004bpq.2_Missense_Mutation_p.D752H|GAPVD1_uc004bpr.2_Missense_Mutation_p.D731H|GAPVD1_uc004bps.2_Missense_Mutation_p.D752H|GAPVD1_uc010mwy.1_Missense_Mutation_p.D611H	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	752					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TGATGATACGGATGTCAGGGA	0.517													C	128094285	G	C	128094285	3	2	173	1	0	0	0	0	1	0	0	0	6239	1174	41	5	2296	5	GAPVD1	9	128094285	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	53753740	128094285	13119146	51	95031											
ZBTB43	23099	broad.mit.edu	37	chr9	129595849	129595849	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagaatattgaaatggTaacagggattaaagaagaag	12	2	0	4			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:129595849T>A	uc004bql.2	+	3	1334	c.1061T>A	c.(1060-1062)GTA>GAA	p.V354E	ZBTB43_uc010mxf.2_Missense_Mutation_p.V354E	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTGAAATGGTAACAGGGATT	0.468													A	129595849	T	A	129595849	3	1	173	1	0	0	0	0	1	0	0	0	17541	1638	57	5	1063	5	ZBTB43	9	129595849	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	1501564	129595849	11617582	52	95032											
SLC25A25	114789	broad.mit.edu	37	chr9	130860953	130860953	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgaagtccattttcaagctCagtgtcttcatcccctccca	5	15	4	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:130860953C>G	uc004bte.2	+	1	137	c.108C>G	c.(106-108)CTC>CTG	p.L36L	SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Intron|SLC25A25_uc004btd.2_Intron|SLC25A25_uc004btf.2_5'UTR	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	36	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						TTTTCAAGCTCAGTGTCTTCA	0.582													G	130860953	C	G	130860953	2	3	173	1	0	0	0	0	0	0	0	1	14488	813	29	5		5	SLC25A25	9	130860953	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	1265104	130860953	10352478	53	95033											
ZER1	10444	broad.mit.edu	37	chr9	131515085	131515085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctcccgagtcagcttgaActtgtagtagctggagaggc	12	11	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:131515085A>G	uc004bwa.1	-	5	1223	c.790T>C	c.(790-792)TTC>CTC	p.F264L		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	264	LRR 2.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GTCAGCTTGAACTTGTAGTAG	0.567													G	131515085	A	G	131515085	3	3	173	1	0	0	0	0	1	0	0	0	17622	43	2	3	1558	3	ZER1	9	131515085	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	654132	131515085	9698346	54	95034											
EGFL7	51162	broad.mit.edu	37	chr9	139564459	139564459	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcggggtgacacttgccagtCaggtgaggctggctctaccc	15	12	2	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr9:139564459C>T	uc004cid.2	+	6	1318	c.407C>T	c.(406-408)TCA>TTA	p.S136L	EGFL7_uc004cif.2_Missense_Mutation_p.S136L|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Missense_Mutation_p.S136L|EGFL7_uc004cie.2_Missense_Mutation_p.S136L|EGFL7_uc004cih.2_Missense_Mutation_p.S136L|MIR126_hsa-mir-126|MI0000471_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	136					angiogenesis|vasculogenesis		calcium ion binding			ovary(1)	1	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		ACTTGCCAGTCAGGTGAGGCT	0.662													T	139564459	C	T	139564459	3	4	173	1	0	0	0	0	1	0	0	0	4964	838	29	4	421	4	EGFL7	9	139564459	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	8049374	139564459	1648972	55	95035											
LIPN	643418	broad.mit.edu	37	chr10	90522041	90522041	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacagaattccttatgggCgaacacatgctaggagcaca	9	10	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr10:90522041C>T	uc010qmw.1	+	2	205	c.205C>T	c.(205-207)CGA>TGA	p.R69*		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	lipase-like, ab-hydrolase domain containing 4	69					lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TCCTTATGGGCGAACACATGC	0.443													T	90522041	C	T	90522041	4	4	173	1	0	0	0	0	0	1	0	0	8828	760	27	1	211	1	LIPN	10	90522041	Nonsense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08		90522041	45012706	56	95036											
CNNM2	54805	broad.mit.edu	37	chr10	104816657	104816657	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgatgagaagaacaagaAagcccccgaatactacctct	7	10	1	4			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr10:104816657A>C	uc001kwm.2	+	4	2133	c.2009A>C	c.(2008-2010)AAA>ACA	p.K670T	CNNM2_uc001kwn.2_Missense_Mutation_p.K670T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	670					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		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)		AAGAACAAGAAAGCCCCCGAA	0.448													C	104816657	A	C	104816657	3	2	173	1	0	0	0	0	1	0	0	0	3613	14	1	5	2065	5	CNNM2	10	104816657	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	14294616	104816657	30718090	57	95037											
TCERG1L	256536	broad.mit.edu	37	chr10	132891575	132891575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgcaaactccttaaaCgtggtcctgaaaaagaaaga	7	9	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr10:132891575C>T	uc001lkp.2	-	12	1697	c.1611G>A	c.(1609-1611)ACG>ACA	p.T537T		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	537	FF 2.									large_intestine(2)|ovary(2)	4		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)		ACTCCTTAAACGTGGTCCTGA	0.488													T	132891575	C	T	132891575	2	4	173	1	0	0	0	0	0	0	0	1	15683	523	19	1		1	TCERG1L	10	132891575	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	28074918	132891575	2643172	58	95038											
LRP4	4038	broad.mit.edu	37	chr11	46889557	46889557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcctccagagacgtgCgggtccgggtggttgaagaa	14	12	0	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr11:46889557C>T	uc001ndn.3	-	34	5206	c.5060G>A	c.(5059-5061)CGC>CAC	p.R1687H	uc001ndl.2_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1687	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CAGAGACGTGCGGGTCCGGGT	0.527													T	46889557	C	T	46889557	3	4	173	1	0	0	0	0	1	0	0	0	8959	768	27	1	677	1	LRP4	11	46889557	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08		46889557	88116959	59	95039											
OR4C16	219428	broad.mit.edu	37	chr11	55339896	55339896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcgagtgcatgatccAagtcttttcatcccatgtct	7	12	4	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr11:55339896A>G	uc010rih.1	+	1	293	c.293A>G	c.(292-294)CAA>CGA	p.Q98R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				TGCATGATCCAAGTCTTTTCA	0.473													G	55339896	A	G	55339896	3	3	173	1	0	0	0	0	1	0	0	0	11049	130	5	3	295	3	OR4C16	11	55339896	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	8450339	55339896	79666620	60	95040											
SLC43A3	29015	broad.mit.edu	37	chr11	57182110	57182110	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcttgcttccttctgGtacttctgtttaagccggtc	8	11	4	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr11:57182110G>C	uc001nkg.2	-	11	1448	c.1038C>G	c.(1036-1038)TAC>TAG	p.Y346*	PRG2_uc001nke.2_Nonsense_Mutation_p.Y245*|SLC43A3_uc001nkh.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc010rjr.1_Nonsense_Mutation_p.Y359*|SLC43A3_uc009yme.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc001nki.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc009ymf.1_Nonsense_Mutation_p.Y346*	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport	integral to membrane				central_nervous_system(1)	1						CTTCCTTCTGGTACTTCTGTT	0.552													C	57182110	G	C	57182110	4	2	173	1	0	0	0	0	0	1	0	0	14634	1256	44	5	453	5	SLC43A3	11	57182110	Nonsense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	1842214	57182110	77824406	61	95041											
SLC22A9	114571	broad.mit.edu	37	chr11	63137725	63137725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacaatgacactggggCcctcagccaagatgcactct	9	14	3	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr11:63137725C>T	uc001nww.2	+	1	465	c.197C>T	c.(196-198)GCC>GTC	p.A66V	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	66	Extracellular (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						GACACTGGGGCCCTCAGCCAA	0.512													T	63137725	C	T	63137725	3	4	173	1	0	0	0	0	1	0	0	0	14461	739	26	2	199	2	SLC22A9	11	63137725	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	5955615	63137725	71868791	62	95042											
BATF2	116071	broad.mit.edu	37	chr11	64757201	64757201	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctcatgcacgtgcagggtCcggctccaccacgccagctc	11	18	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr11:64757201C>T	uc001ocf.1	-	3	356	c.225G>A	c.(223-225)CGG>CGA	p.R75R	BATF2_uc001oce.1_5'UTR	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor,	75						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGTGCAGGGTCCGGCTCCACC	0.657													T	64757201	C	T	64757201	2	4	173	1	0	0	0	0	0	0	0	1	1326	842	30	4		4	BATF2	11	64757201	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	1619476	64757201	70249315	63	95043											
PDE2A	5138	broad.mit.edu	37	chr11	72288594	72288594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacggttggaggccacgCgctcgtacagctctgccgct	13	15	2	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr11:72288594C>T	uc010rrc.1	-	31	2903	c.2660G>A	c.(2659-2661)CGC>CAC	p.R887H	PDE2A_uc001oso.2_Missense_Mutation_p.R866H|PDE2A_uc010rra.1_Missense_Mutation_p.R880H|PDE2A_uc001osn.2_Missense_Mutation_p.R631H|PDE2A_uc010rrb.1_Missense_Mutation_p.R878H|PDE2A_uc010rrd.1_Missense_Mutation_p.R772H	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	887	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGAGGCCACGCGCTCGTACAG	0.617													T	72288594	C	T	72288594	3	4	173	1	0	0	0	0	1	0	0	0	11636	768	27	1	169	1	PDE2A	11	72288594	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	7531393	72288594	62717922	64	95044											
KDM5A	5927	broad.mit.edu	37	chr12	465688	465688	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagttccgtgtttctactcaCatctccagattctgactaaa	5	12	4	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:465688C>G	uc001qif.1	-	6	1051	c.688G>C	c.(688-690)GTG>CTG	p.V230L	KDM5A_uc001qie.1_Missense_Mutation_p.V230L|KDM5A_uc010sdn.1_Missense_Mutation_p.V189L|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	230					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			skin(2)|ovary(1)	3						TTTCTACTCACATCTCCAGAT	0.373			T 	NUP98	AML								G	465688	C	G	465688	3	3	173	1	0	0	0	0	1	0	0	0	8133	478	17	5	4476	5	KDM5A	12	465688	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08		465688	133386207	65	95045											
CACNA1C	775	broad.mit.edu	37	chr12	2760857	2760857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttccgcctgttccggGtcatgcgtctggtgaagctg	12	13	3	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:2760857G>A	uc009zdu.1	+	34	4454	c.4141G>A	c.(4141-4143)GTC>ATC	p.V1381I	CACNA1C_uc009zdv.1_Missense_Mutation_p.V1330I|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qke.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1320I|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1355I|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1381I|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qko.2_Missense_Mutation_p.V1353I|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1350I|CACNA1C_uc001qku.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1361I|CACNA1C_uc001qks.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qki.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkj.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkk.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkm.1_Missense_Mutation_p.V1058I|CACNA1C_uc010sea.1_Missense_Mutation_p.V24I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1381	Helical; Name=S4 of repeat IV; (Potential).|IV.				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			ovary(10)|central_nervous_system(1)	11			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)	CCTGTTCCGGGTCATGCGTCT	0.617													A	2760857	G	A	2760857	3	1	173	1	0	0	0	0	1	0	0	0	2540	1261	44	4	4449	4	CACNA1C	12	2760857	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	2295169	2760857	131091038	66	95046											
VWF	7450	broad.mit.edu	37	chr12	6058252	6058252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatggtacacaacagagcCattggtgcagtgcagggcca	12	11	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:6058252C>A	uc001qnn.1	-	52	8621	c.8371G>T	c.(8371-8373)GGC>TGC	p.G2791C	ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2791	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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	ACAACAGAGCCATTGGTGCAG	0.582													A	6058252	C	A	6058252	3	1	173	1	0	0	0	0	1	0	0	0	17243	594	21	5	74	5	VWF	12	6058252	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	3297395	6058252	127793643	67	95047											
KIAA1467	57613	broad.mit.edu	37	chr12	13219655	13219655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacaacatcgttggagttGggaatctgattggtcctcag	12	7	2	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:13219655G>A	uc001rbi.2	+	6	957	c.934G>A	c.(934-936)GGG>AGG	p.G312R	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	312						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGTTGGAGTTGGGAATCTGAT	0.507													A	13219655	G	A	13219655	3	1	173	1	0	0	0	0	1	0	0	0	8235	1348	47	4	956	4	KIAA1467	12	13219655	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	7161403	13219655	120632240	68	95048											
SYT10	341359	broad.mit.edu	37	chr12	33579428	33579431	+	Splice_Site	DEL	TATC	TATC	-													agctaacaggctgactgaaaTatctggaaaaattacaatgt							TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:33579428_33579431delTATC	uc001rll.1	-	2	449	c.152_splice	c.e2-1	p.D51_splice	SYT10_uc009zju.1_Splice_Site	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X							cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGACTGAAATATCTGGAAAAATT	0.338													-	33579431	TATC	-	33579428	8	5	173	1	0	1	0	1	0	0	1	0	15463	1406	49	0	1441	0	SYT10	12	33579428	Splice_Site	DEL	TATC	TCGA-CG-4443-01A-01D-1158-08	20359773	33579428	100272467	69	95049											
C12orf40	283461	broad.mit.edu	37	chr12	40041751	40041751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacctactcctcagaaacTtgcatatgaaaaaaagcaga	6	10	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:40041751T>C	uc001rmc.2	+	6	709	c.542T>C	c.(541-543)CTT>CCT	p.L181P	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	181										ovary(6)	6						CCTCAGAAACTTGCATATGAA	0.303													C	40041751	T	C	40041751	3	2	173	1	0	0	0	0	1	0	0	0	1686	1609	56	3	564	3	C12orf40	12	40041751	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	6462323	40041751	93810144	70	95050											
MLL2	8085	broad.mit.edu	37	chr12	49438225	49438225	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgcgttttttgctttcctCggtctcctctttgccaggct	8	13	2	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:49438225C>A	uc001rta.3	-	20	5044	c.5044G>T	c.(5044-5046)GAG>TAG	p.E1682*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1682					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTGCTTTCCTCGGTCTCCTCT	0.582			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49438225	C	A	49438225	4	1	173	1	0	0	0	0	0	1	0	0	9621	893	31	5	11709	5	MLL2	12	49438225	Nonsense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	9396474	49438225	84413670	71	95051											
KRT82	3888	broad.mit.edu	37	chr12	52788868	52788868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggggacatagagttcaCcagtgcccacgatgctgcag	13	12	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:52788868C>A	uc001sai.1	-	9	1548	c.1433G>T	c.(1432-1434)GGT>GTT	p.G478V		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	478	Tail.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		ATAGAGTTCACCAGTGCCCAC	0.652													A	52788868	C	A	52788868	3	1	173	1	0	0	0	0	1	0	0	0	8496	507	18	5	112	5	KRT82	12	52788868	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	3350643	52788868	81063027	72	95052											
NCKAP1L	3071	broad.mit.edu	37	chr12	54893155	54893155	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagacttgttcagaccccaAatctaagccacctttcttac	5	14	3	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:54893155A>T	uc001sgc.3	+	2	198	c.119A>T	c.(118-120)AAA>ATA	p.K40I	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_5'UTR	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	40					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			ovary(3)|central_nervous_system(1)	4						TCAGACCCCAAATCTAAGCCA	0.403													T	54893155	A	T	54893155	3	4	173	1	0	0	0	0	1	0	0	0	10222	14	1	5	125	5	NCKAP1L	12	54893155	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	2104287	54893155	78958740	73	95053											
SMARCC2	6601	broad.mit.edu	37	chr12	56574790	56574790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgtcacctcttctacaTtggggactggtgagggctcg	14	9	3	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:56574790T>C	uc001skb.2	-	11	1158	c.1052A>G	c.(1051-1053)AAT>AGT	p.N351S	SMARCC2_uc001skd.2_Missense_Mutation_p.N351S|SMARCC2_uc001ska.2_Missense_Mutation_p.N351S|SMARCC2_uc001skc.2_Missense_Mutation_p.N351S|SMARCC2_uc010sqf.1_Missense_Mutation_p.N240S	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	351					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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCTTCTACATTGGGGACTGG	0.557													C	56574790	T	C	56574790	3	2	173	1	0	0	0	0	1	0	0	0	14776	1493	52	3	2761	3	SMARCC2	12	56574790	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	1681635	56574790	77277105	74	95054											
BEST3	144453	broad.mit.edu	37	chr12	70049272	70049272	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagtgcttgtctggctggtCtccctgatggtggacagctc	13	10	2	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:70049272C>G	uc001svg.2	-	10	1649	c.1422G>C	c.(1420-1422)GAG>GAC	p.E474D	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.E261D|BEST3_uc010stm.1_Missense_Mutation_p.E368D	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	474	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	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)			TCTGGCTGGTCTCCCTGATGG	0.567													G	70049272	C	G	70049272	3	3	173	1	0	0	0	0	1	0	0	0	1406	912	32	5	588	5	BEST3	12	70049272	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	13474482	70049272	63802623	75	95055											
BTBD11	121551	broad.mit.edu	37	chr12	108012102	108012102	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgagggaggccatgtAtcacagcgctgagcatggct	15	11	1	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:108012102A>T	uc001tmk.1	+	10	2920	c.2399A>T	c.(2398-2400)TAT>TTT	p.Y800F	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.Y800F|BTBD11_uc001tml.1_Missense_Mutation_p.Y337F	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	800						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GAGGCCATGTATCACAGCGCT	0.627													T	108012102	A	T	108012102	3	4	173	1	0	0	0	0	1	0	0	0	1539	449	16	5	2542	5	BTBD11	12	108012102	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	37962830	108012102	25839793	76	95056											
WDR66	144406	broad.mit.edu	37	chr12	122441652	122441652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaccatttcagaagattcCggccaggatggtcagtgaag	11	8	2	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr12:122441652C>T	uc009zxk.2	+	22	3574	c.3432C>T	c.(3430-3432)TCC>TCT	p.S1144S		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1144							calcium ion binding			ovary(1)|skin(1)	2	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)		CAGAAGATTCCGGCCAGGATG	0.438													T	122441652	C	T	122441652	2	4	173	1	0	0	0	0	0	0	0	1	17314	639	23	1		1	WDR66	12	122441652	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	14429550	122441652	11410243	77	95057											
SETDB2	83852	broad.mit.edu	37	chr13	50057068	50057068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgagaaatgtccaccaaAgttcagtaataatcccaagg	7	9	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr13:50057068A>G	uc001vcz.2	+	10	2294	c.1388A>G	c.(1387-1389)AAG>AGG	p.K463R	SETDB2_uc001vcy.3_Missense_Mutation_p.K451R|SETDB2_uc010adh.2_Missense_Mutation_p.K451R|SETDB2_uc001vda.2_Missense_Mutation_p.K451R	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	463	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			ovary(1)|central_nervous_system(1)	2		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)		TGTCCACCAAAGTTCAGTAAT	0.358													G	50057068	A	G	50057068	3	3	173	1	0	0	0	0	1	0	0	0	14139	72	3	3	1422	3	SETDB2	13	50057068	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08		50057068	65112810	78	95058											
C13orf34	79866	broad.mit.edu	37	chr13	73320199	73320199	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caattgaatttcagataggaGagactccactctcaggtatg	9	8	2	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr13:73320199G>C	uc001viv.1	+	9	975	c.856G>C	c.(856-858)GAG>CAG	p.E286Q	C13orf34_uc010thq.1_Missense_Mutation_p.E61Q|C13orf34_uc010aen.1_Missense_Mutation_p.E361Q|C13orf34_uc010thr.1_Missense_Mutation_p.E216Q|C13orf34_uc001viw.1_Missense_Mutation_p.E235Q	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	286					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TCAGATAGGAGAGACTCCACT	0.343													C	73320199	G	C	73320199	3	2	173	1	0	0	0	0	1	0	0	0	1728	943	33	5	886	5	C13orf34	13	73320199	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	23263131	73320199	41849679	79	95059											
COL4A1	1282	broad.mit.edu	37	chr13	110830564	110830564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaacccttctctccttTtattccaggagggcctgcag	11	12	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr13:110830564T>C	uc001vqw.3	-	32	2595	c.2473A>G	c.(2473-2475)AAA>GAA	p.K825E	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	825	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			TTCTCTCCTTTTATTCCAGGA	0.483													C	110830564	T	C	110830564	3	2	173	1	0	0	0	0	1	0	0	0	3689	1850	64	3	2620	3	COL4A1	13	110830564	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	37510365	110830564	4339314	80	95060											
MYH6	4624	broad.mit.edu	37	chr14	23872600	23872600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagaatctggtagaagatGtggtagtttctctcagcttt	11	6	3	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr14:23872600G>A	uc001wjv.2	-	10	922	c.855C>T	c.(853-855)CAC>CAT	p.H285H	MYH6_uc010akp.1_Silent_p.H285H	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	285	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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTAGAAGATGTGGTAGTTTC	0.577													A	23872600	G	A	23872600	2	1	173	1	0	0	0	0	0	0	0	1	10038	1368	48	4		4	MYH6	14	23872600	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08		23872600	83476940	81	95061											
TXNDC16	57544	broad.mit.edu	37	chr14	52949605	52949605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaaatgtttcttctgttAgttccactgtaagttccaaa	5	8	2	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr14:52949605A>G	uc001wzs.2	-	13	1636	c.1187T>C	c.(1186-1188)CTA>CCA	p.L396P	TXNDC16_uc010tqu.1_Missense_Mutation_p.L391P|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	396	Thioredoxin.				cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TTCTTCTGTTAGTTCCACTGT	0.363													G	52949605	A	G	52949605	3	3	173	1	0	0	0	0	1	0	0	0	16792	420	15	3	1326	3	TXNDC16	14	52949605	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	29077005	52949605	54399935	82	95062											
DAAM1	23002	broad.mit.edu	37	chr14	59797928	59797928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctatttttatcttttcagaGggccgtctgtgcttcaatcc	7	11	4	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr14:59797928G>C	uc001xdz.1	+	14	1687	c.1562G>C	c.(1561-1563)AGG>ACG	p.R521T	DAAM1_uc001xea.1_Missense_Mutation_p.R521T	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	521	Potential.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCTTTTCAGAGGGCCGTCTGT	0.463													C	59797928	G	C	59797928	3	2	173	1	0	0	0	0	1	0	0	0	4215	1014	35	5	1612	5	DAAM1	14	59797928	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	6848323	59797928	47551612	83	95063											
RTN1	6252	broad.mit.edu	37	chr14	60072170	60072170	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgtagaactgcaggcagtcCgtgtacttctgaatctgctc	10	11	2	2	rs148862799	by1000genomes	TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr14:60072170C>G	uc001xen.1	-	5	2237	c.2028G>C	c.(2026-2028)ACG>ACC	p.T676T	RTN1_uc001xem.1_Silent_p.T256T|RTN1_uc001xek.1_Silent_p.T108T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.T93T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	676	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAGGCAGTCCGTGTACTTCT	0.478													G	60072170	C	G	60072170	2	3	173	1	0	0	0	0	0	0	0	1	13725	639	23	5		5	RTN1	14	60072170	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	274242	60072170	47277370	84	95064											
C14orf102	55051	broad.mit.edu	37	chr14	90770533	90770533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcactggtataaaggagaTgggctcagatgagggaggtt	15	5	2	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr14:90770533T>C	uc001xyi.1	-	5	782	c.751A>G	c.(751-753)ATC>GTC	p.I251V	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.I20V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	251	Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ATAAAGGAGATGGGCTCAGAT	0.448													C	90770533	T	C	90770533	3	2	173	1	0	0	0	0	1	0	0	0	1735	1464	51	3	2783	3	C14orf102	14	90770533	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	30698363	90770533	16579007	85	95065											
RYR3	6263	broad.mit.edu	37	chr15	33999125	33999125	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactgtttctggcaggtggtGacctacttggcaggctgtgg	15	8	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr15:33999125G>A	uc001zhi.2	+	43	6559	c.6489G>A	c.(6487-6489)GTG>GTA	p.V2163V	RYR3_uc010bar.2_Silent_p.V2163V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2163	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GGCAGGTGGTGACCTACTTGG	0.363													A	33999125	G	A	33999125	2	1	173	1	0	0	0	0	0	0	0	1	13770	1277	45	4		4	RYR3	15	33999125	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08		33999125	68532267	86	95066											
TGM7	116179	broad.mit.edu	37	chr15	43577113	43577113	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcgcggaacggaaattGgaaacaacacgggttggaac	14	7	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr15:43577113G>C	uc001zrf.1	-	7	908	c.903C>G	c.(901-903)TCC>TCG	p.S301S		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	301					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AACGGAAATTGGAAACAACAC	0.418													C	43577113	G	C	43577113	2	2	173	1	0	0	0	0	0	0	0	1	15832	1335	47	5		5	TGM7	15	43577113	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	9577988	43577113	58954279	87	95067											
PDXDC1	23042	broad.mit.edu	37	chr16	15100425	15100425	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagacctggcctgggccaAtacctttgtaatcaggtaat	10	10	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr16:15100425A>G	uc002dda.3	+	6	788	c.564A>G	c.(562-564)CAA>CAG	p.Q188Q	PDXDC1_uc010uzl.1_Silent_p.Q173Q|PDXDC1_uc010uzm.1_Silent_p.Q97Q|PDXDC1_uc010bvc.1_Silent_p.Q129Q|PDXDC1_uc002dcz.2_Silent_p.Q188Q|PDXDC1_uc002ddb.3_Silent_p.Q161Q|PDXDC1_uc010uzn.1_Silent_p.Q160Q|PDXDC1_uc002ddc.2_Silent_p.Q188Q	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	188					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GCCTGGGCCAATACCTTTGTA	0.378													G	15100425	A	G	15100425	2	3	173	1	0	0	0	0	0	0	0	1	11696	98	4	3		3	PDXDC1	16	15100425	Silent	SNP	A	TCGA-CG-4443-01A-01D-1158-08		15100425	75254328	88	95068											
DNAH3	55567	broad.mit.edu	37	chr16	20976517	20976517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagccaccaccttggccaCgcgatcgtacacctccatgg	11	16	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr16:20976517C>T	uc010vbe.1	-	53	8689	c.8689G>A	c.(8689-8691)GTG>ATG	p.V2897M	DNAH3_uc010vbd.1_Missense_Mutation_p.V332M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2897	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACCTTGGCCACGCGATCGTAC	0.567													T	20976517	C	T	20976517	3	4	173	1	0	0	0	0	1	0	0	0	4603	536	19	1	3700	1	DNAH3	16	20976517	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	5876092	20976517	69378236	89	95069											
KIFC3	3801	broad.mit.edu	37	chr16	57795042	57795042	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtgctcgttcaggttGgtgaactcggtcgtgcgatt	15	8	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr16:57795042G>C	uc002emp.2	-	15	2111	c.1914C>G	c.(1912-1914)ACC>ACG	p.T638T	KIFC3_uc010vhw.1_Silent_p.T536T|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Silent_p.T499T|KIFC3_uc010vhx.1_Silent_p.T496T|KIFC3_uc010cdf.2_Silent_p.T499T|KIFC3_uc002emo.3_Silent_p.T499T|KIFC3_uc010vhy.1_Silent_p.T580T|KIFC3_uc002emq.2_Silent_p.T638T|KIFC3_uc010vhz.1_Silent_p.T660T	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	638	Kinesin-motor.				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			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				CGTTCAGGTTGGTGAACTCGG	0.627													C	57795042	G	C	57795042	2	2	173	1	0	0	0	0	0	0	0	1	8314	1335	47	5		5	KIFC3	16	57795042	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	36818525	57795042	32559711	90	95070											
ZNRF1	84937	broad.mit.edu	37	chr16	75033951	75033951	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagcctcgctggcggatgctCtacctctgcacatcgcaccc	10	17	2	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr16:75033951C>G	uc002fdk.2	+	1	1037	c.382C>G	c.(382-384)CTA>GTA	p.L128V	ZNRF1_uc010vmz.1_Missense_Mutation_p.L128V|ZNRF1_uc002fdl.1_Missense_Mutation_p.L128V|ZNRF1_uc010cgr.1_Missense_Mutation_p.L128V	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	zinc and ring finger protein 1	128						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding				0						GGCGGATGCTCTACCTCTGCA	0.672													G	75033951	C	G	75033951	3	3	173	1	0	0	0	0	1	0	0	0	18208	912	32	5	384	5	ZNRF1	16	75033951	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	17238909	75033951	15320802	91	95071											
TMEM102	284114	broad.mit.edu	37	chr17	7340375	7340375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcaccgagcggccgtgCgcctccgcctggcagctctg	16	17	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr17:7340375C>T	uc002ggx.1	+	3	1350	c.1077C>T	c.(1075-1077)TGC>TGT	p.C359C	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.C359C|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	359	Cytoplasmic (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				AGCGGCCGTGCGCCTCCGCCT	0.741													T	7340375	C	T	7340375	2	4	173	1	0	0	0	0	0	0	0	1	16014	776	27	1		1	TMEM102	17	7340375	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08		7340375	73854835	92	95072											
SLC47A2	146802	broad.mit.edu	37	chr17	19611062	19611062	+	Frame_Shift_Del	DEL	C	C	-													caggccaggcctcccacctgCccacgtctccaggtgcagct							TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr17:19611062delC	uc002gwe.3	-	8	1007	c.832delG	c.(832-834)GCAfs	p.A278fs	SLC47A2_uc002gwg.3_Frame_Shift_Del_p.A242fs|SLC47A2_uc002gwf.3_Frame_Shift_Del_p.A242fs|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	278	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CTCCCACCTGCCCACGTCTCC	0.627													-	19611062	C	-	19611062	7	5	173	1	0	1	0	1	0	0	0	0	14648	739	26	0	1016	0	SLC47A2	17	19611062	Frame_Shift_Del	DEL	C	TCGA-CG-4443-01A-01D-1158-08	12270687	19611062	61584148	93	95073											
LYZL6	57151	broad.mit.edu	37	chr17	34261839	34261839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccagtagaagagtggCcggcctgaacagtgcaacct	13	11	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr17:34261839C>T	uc002hkj.1	-	4	558	c.408G>A	c.(406-408)CGG>CGA	p.R136R	LYZL6_uc002hkk.1_Silent_p.R136R	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	136					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAGAGTGGCCGGCCTGAAC	0.532													T	34261839	C	T	34261839	2	4	173	1	0	0	0	0	0	0	0	1	9134	726	26	2		2	LYZL6	17	34261839	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	14650777	34261839	46933371	94	95074											
TOP2A	7153	broad.mit.edu	37	chr17	38546403	38546403	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttttggcaccggtagtggaGgtggaagactgacctgcaat	14	7	0	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr17:38546403G>C	uc002huq.2	-	34	4407	c.4281C>G	c.(4279-4281)ACC>ACG	p.T1427T		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	1427					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		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)	CGGTAGTGGAGGTGGAAGACT	0.353													C	38546403	G	C	38546403	2	2	173	1	0	0	0	0	0	0	0	1	16362	987	35	5		5	TOP2A	17	38546403	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	4284564	38546403	42648807	95	95075											
BRCA1	672	broad.mit.edu	37	chr17	41219625	41219625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaaggttcttggtatacCtgttttcataacaacatgag	8	6	2	1	rs80187739		TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr17:41219625C>T	uc002icq.2	-	16	5306	c.5074G>A	c.(5074-5076)GAT>AAT	p.D1692N	BRCA1_uc010whp.1_Missense_Mutation_p.D541N|BRCA1_uc010whl.1_Missense_Mutation_p.D588N|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D1621N|BRCA1_uc002icu.2_Missense_Mutation_p.D588N|BRCA1_uc010cyx.2_Missense_Mutation_p.D1645N|BRCA1_uc002ict.2_Missense_Mutation_p.D1713N|BRCA1_uc010whn.1_Missense_Mutation_p.D183N|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.D421N|BRCA1_uc002idc.1_Missense_Mutation_p.D588N|BRCA1_uc010whr.1_Missense_Mutation_p.D542N	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1692	BRCT 1.		D -> N (in ovarian cancer; could be a polymorphism).		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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTGGTATACCTGTTTTCATA	0.274			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			T	41219625	C	T	41219625	3	4	173	1	0	0	0	0	1	0	0	0	1498	695	24	4	549	4	BRCA1	17	41219625	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	2673222	41219625	39975585	96	95076											
ZNF571	51276	broad.mit.edu	37	chr19	38056612	38056612	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtatgaactctctgatgttCagtgagctgtgaaccacgaa	10	8	2	4			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr19:38056612C>G	uc002ogt.2	-	4	819	c.718G>C	c.(718-720)GAA>CAA	p.E240Q	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.E240Q	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	240	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTTCAGTGAGCTGT	0.348													G	38056612	C	G	38056612	3	3	173	1	0	0	0	0	1	0	0	0	18000	835	29	5	1115	5	ZNF571	19	38056612	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08		38056612	21072371	97	95077											
TGM6	343641	broad.mit.edu	37	chr20	2413184	2413184	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctcagtccagtttgacatCaccccctccaaaagtggccc	7	17	2	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:2413184C>T	uc002wfy.1	+	13	2077	c.2016C>T	c.(2014-2016)ATC>ATT	p.I672I	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	672					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AGTTTGACATCACCCCCTCCA	0.592													T	2413184	C	T	2413184	2	4	173	1	0	0	0	0	0	0	0	1	15831	816	29	4		4	TGM6	20	2413184	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08		2413184	60612336	98	95078											
DEFB121	245934	broad.mit.edu	37	chr20	29992750	29992750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgattccaggcttgtatttGtgtctgttaattttggtttt	9	4	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:29992750G>T	uc002wvv.1	-	2	233	c.197C>A	c.(196-198)ACA>AAA	p.T66K		NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	defensin, beta 121 precursor	66					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCTTGTATTTGTGTCTGTTAA	0.388													T	29992750	G	T	29992750	3	4	173	1	0	0	0	0	1	0	0	0	4408	1377	48	5	37	5	DEFB121	20	29992750	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	27579566	29992750	33032770	99	95079											
SAMHD1	25939	broad.mit.edu	37	chr20	35559253	35559253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttcacccagtgcgtgaaCtagacatcctgctagatacc	7	12	1	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:35559253C>A	uc002xgh.1	-	5	665	c.535G>T	c.(535-537)GTT>TTT	p.V179F		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	179	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				AGTGCGTGAACTAGACATCCT	0.448													A	35559253	C	A	35559253	3	1	173	1	0	0	0	0	1	0	0	0	13828	565	20	5	1393	5	SAMHD1	20	35559253	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	5566503	35559253	27466267	100	95080											
TP53TG5	27296	broad.mit.edu	37	chr20	44005922	44005922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttttggccagcttatgcaGttcttggatccggcggtttg	12	10	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:44005922G>T	uc002xny.2	-	3	265	c.184C>A	c.(184-186)CTG>ATG	p.L62M	SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	62					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						AGCTTATGCAGTTCTTGGATC	0.502													T	44005922	G	T	44005922	3	4	173	1	0	0	0	0	1	0	0	0	16388	1020	36	5	700	5	TP53TG5	20	44005922	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	8446669	44005922	19019598	101	95081											
ZNFX1	57169	broad.mit.edu	37	chr20	47864683	47864683	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatacctcaggtttttgcgGatgggcacctggcagatagg	13	10	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:47864683G>A	uc002xui.2	-	14	5125	c.4878C>T	c.(4876-4878)ATC>ATT	p.I1626I		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1626							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTTTTTGCGGATGGGCACCT	0.473													A	47864683	G	A	47864683	2	1	173	1	0	0	0	0	0	0	0	1	18202	1164	41	4		4	ZNFX1	20	47864683	Silent	SNP	G	TCGA-CG-4443-01A-01D-1158-08	3858761	47864683	15160837	102	95082											
ATP9A	10079	broad.mit.edu	37	chr20	50307283	50307283	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctcacttactcgggTaaaagttcccacgaagttgt	10	9	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:50307283T>A	uc002xwg.1	-	8	718	c.718A>T	c.(718-720)ACC>TCC	p.T240S	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	240	Cytoplasmic (Potential).				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			ovary(4)	4						CTTACTCGGGTAAAAGTTCCC	0.463													A	50307283	T	A	50307283	3	1	173	1	0	0	0	0	1	0	0	0	1198	1638	57	5	2509	5	ATP9A	20	50307283	Missense_Mutation	SNP	T	TCGA-CG-4443-01A-01D-1158-08	2442600	50307283	12718237	103	95083											
ZFP64	55734	broad.mit.edu	37	chr20	50769930	50769930	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtccgagctgattttgaaCttggcgctacagagccagca	11	10	0	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:50769930C>G	uc002xwl.2	-	6	1150	c.801G>C	c.(799-801)AAG>AAC	p.K267N	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.K265N|ZFP64_uc002xwn.2_Missense_Mutation_p.K213N	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	267	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGATTTTGAACTTGGCGCTAC	0.567													G	50769930	C	G	50769930	3	3	173	1	0	0	0	0	1	0	0	0	17649	564	20	5	2439	5	ZFP64	20	50769930	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	462647	50769930	12255590	104	95084											
ZNF831	128611	broad.mit.edu	37	chr20	57767635	57767635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacgtggctggagcccaggGagccccgggacccctggtcc	17	15	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:57767635G>A	uc002yan.2	+	1	1561	c.1561G>A	c.(1561-1563)GAG>AAG	p.E521K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	521						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGAGCCCAGGGAGCCCCGGGA	0.701													A	57767635	G	A	57767635	3	1	173	1	0	0	0	0	1	0	0	0	18182	1175	41	4	1563	4	ZNF831	20	57767635	Missense_Mutation	SNP	G	TCGA-CG-4443-01A-01D-1158-08	6997705	57767635	5257885	105	95085											
PTK6	5753	broad.mit.edu	37	chr20	62165631	62165631	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agccggcccccggcacgccgCcagatcttgtagtgccgcac	12	18	1	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr20:62165631C>G	uc002yfg.2	-	3	430	c.390G>C	c.(388-390)TGG>TGC	p.W130C	PTK6_uc011aay.1_Missense_Mutation_p.W29C|PTK6_uc011aaz.1_5'Flank|PTK6_uc011aba.1_3'UTR	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	130	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CGGCACGCCGCCAGATCTTGT	0.697													G	62165631	C	G	62165631	3	3	173	1	0	0	0	0	1	0	0	0	12764	740	26	5	989	5	PTK6	20	62165631	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	4397996	62165631	859889	106	95086											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869360	31869360	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatccacagccatagccAtagcctaggccaccaaagcc	6	18	0	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr21:31869360A>G	uc011acz.1	-	1	69	c.69T>C	c.(67-69)TAT>TAC	p.Y23Y		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	23						intermediate filament				ovary(2)	2						AGCCATAGCCATAGCCTAGGC	0.562													G	31869360	A	G	31869360	2	3	173	1	0	0	0	0	0	0	0	1	8531	224	8	3		3	KRTAP19-4	21	31869360	Silent	SNP	A	TCGA-CG-4443-01A-01D-1158-08		31869360	16260535	107	95087											
SCUBE1	80274	broad.mit.edu	37	chr22	43625083	43625084	+	Missense_Mutation	DNP	CA	CA	AG													gggcaggctgcagacctccgCagtgggttgtcccgtagagg							TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr22:43625083_43625084CA>AG	uc003bdt.1	-	9	1166_1167	c.1078_1079TG>CT	c.(1078-1080)TGC>CTC	p.C360L		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	360	EGF-like 8; 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			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGACCTCCGCAGTGGGTTGTC	0.688											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	AG	43625084	CA	AG	43625083	3	1	173	1	0	0	0	0	1	0	0	0	13944	710	25	5	1943	5	SCUBE1	22	43625083	Missense_Mutation	DNP	CA	TCGA-CG-4443-01A-01D-1158-08		43625083	7679483	108	95088											
CERK	64781	broad.mit.edu	37	chr22	47116006	47116006	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccagcatctcccgcAgggtctgcagccacaagtga	10	15	3	1			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chr22:47116006A>T	uc003bia.2	-	3	463	c.356T>A	c.(355-357)CTG>CAG	p.L119Q		NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	119	Required for binding to sulfatide and phosphoinositides.				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			skin(1)	1		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)		CATCTCCCGCAGGGTCTGCAG	0.572													T	47116006	A	T	47116006	3	4	173	1	0	0	0	0	1	0	0	0	3267	188	7	5	1301	5	CERK	22	47116006	Missense_Mutation	SNP	A	TCGA-CG-4443-01A-01D-1158-08	3490923	47116006	4188560	109	95089											
KDM5C	8242	broad.mit.edu	37	chrX	53222343	53222343	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccagtctcctcctccagctCttcctcctcctggacctcct	4	22	2	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chrX:53222343C>G	uc004drz.2	-	26	5022	c.4489G>C	c.(4489-4491)GAG>CAG	p.E1497Q	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.E1496Q|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1497					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			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TCCTCCAGCTCTTCCTCCTCC	0.672			N|F|S		clear cell renal carcinoma								G	53222343	C	G	53222343	3	3	173	1	0	0	0	0	1	0	0	0	8135	922	32	5	295	5	KDM5C	23	53222343	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08		53222343	102048217	110	95090											
BRWD3	254065	broad.mit.edu	37	chrX	79939565	79939565	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttgaatatttggcgaacatCcttataaaattccagaggac	8	7	0	2			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chrX:79939565C>A	uc004edt.2	-	37	4440	c.4177G>T	c.(4177-4179)GAT>TAT	p.D1393Y	BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Missense_Mutation_p.D989Y|BRWD3_uc004edp.2_Missense_Mutation_p.D1222Y|BRWD3_uc004edq.2_Missense_Mutation_p.D989Y|BRWD3_uc010nmj.1_Missense_Mutation_p.D989Y|BRWD3_uc004edr.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eds.2_Missense_Mutation_p.D989Y|BRWD3_uc004edu.2_Missense_Mutation_p.D1063Y|BRWD3_uc004edv.2_Missense_Mutation_p.D989Y|BRWD3_uc004edw.2_Missense_Mutation_p.D989Y|BRWD3_uc004edx.2_Missense_Mutation_p.D989Y|BRWD3_uc004edy.2_Missense_Mutation_p.D989Y|BRWD3_uc004edz.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eea.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eeb.2_Missense_Mutation_p.D989Y	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1393	Bromo 2.									ovary(4)	4						TGGCGAACATCCTTATAAAAT	0.353													A	79939565	C	A	79939565	3	1	173	1	0	0	0	0	1	0	0	0	1526	855	30	5	1251	5	BRWD3	23	79939565	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	26717222	79939565	75330995	111	95091											
SEPT6	23157	broad.mit.edu	37	chrX	118767452	118767452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctcatatgtctcctgTaaactgcgaacatggtcagg	10	10	3	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chrX:118767452T>C	uc004erv.2	-	8	1225	c.960A>G	c.(958-960)TTA>TTG	p.L320L	SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Silent_p.L320L|SEPT6_uc004ert.2_Silent_p.L320L|SEPT6_uc004eru.2_Silent_p.L320L|SEPT6_uc004erw.2_Silent_p.L262L|SEPT6_uc011mtv.1_Silent_p.L262L|SEPT6_uc011mtw.1_Silent_p.L350L	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	320					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						ATGTCTCCTGTAAACTGCGAA	0.453													C	118767452	T	C	118767452	2	2	173	1	0	0	0	0	0	0	0	1	14068	1635	57	3		3	SEPT6	23	118767452	Silent	SNP	T	TCGA-CG-4443-01A-01D-1158-08	38827887	118767452	36503108	112	95092											
UTP14A	10813	broad.mit.edu	37	chrX	129042700	129042700	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaggtgtcagagttcaatgtCagttctgaaggtaagttgaa	12	4	4	3			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chrX:129042700C>G	uc004euz.2	+	4	256	c.228C>G	c.(226-228)GTC>GTG	p.V76V	UTP14A_uc011mup.1_Silent_p.V76V|UTP14A_uc011muq.1_Intron	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	76					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						AGTTCAATGTCAGTTCTGAAG	0.428													G	129042700	C	G	129042700	2	3	173	1	0	0	0	0	0	0	0	1	17092	813	29	5		5	UTP14A	23	129042700	Silent	SNP	C	TCGA-CG-4443-01A-01D-1158-08	10275248	129042700	26227860	113	95093											
PDZD4	57595	broad.mit.edu	37	chrX	153070157	153070157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcccggctctgcagggCgtccccttgcaggccaaact	12	15	1	0			TCGA-CG-4443-01A-01D-1158-08	TCGA-CG-4443-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34939d0-6d7c-4fdc-b176-ef85b22f627b	53c153a9-8651-406e-b23b-ec36814e596c	g.chrX:153070157C>A	uc004fiz.1	-	8	1211	c.961G>T	c.(961-963)GCC>TCC	p.A321S	PDZD4_uc004fiy.1_Missense_Mutation_p.A246S|PDZD4_uc004fix.2_Missense_Mutation_p.A225S|PDZD4_uc004fja.1_Missense_Mutation_p.A327S|PDZD4_uc011mze.1_Missense_Mutation_p.A212S	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	321						cell cortex				breast(1)	1	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)					CTCTGCAGGGCGTCCCCTTGC	0.677													A	153070157	C	A	153070157	3	1	173	1	0	0	0	0	1	0	0	0	11703	768	27	5	1352	5	PDZD4	23	153070157	Missense_Mutation	SNP	C	TCGA-CG-4443-01A-01D-1158-08	24027457	153070157	2200403	114	95094											
C1orf127	148345	broad.mit.edu	37	chr1	11008159	11008159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgaactcagccaggcaCtggggtctggctgcctcaca	12	14	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:11008159C>T	uc010oao.1	-	8	1591	c.1586G>A	c.(1585-1587)AGT>AAT	p.S529N	C1orf127_uc001arr.1_Missense_Mutation_p.S511N|C1orf127_uc001ars.1_Missense_Mutation_p.S503N	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	529										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CAGCCAGGCACTGGGGTCTGG	0.622													T	11008159	C	T	11008159	3	4	174	1	0	0	0	0	1	0	0	0	1994	565	20	4	442	4	C1orf127	1	11008159	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08		11008159	238242462	1	95095											
C1orf94	84970	broad.mit.edu	37	chr1	34684357	34684357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggaatggcataaacTtttagatctcctcttctccc	7	12	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:34684357T>G	uc001bxs.3	+	7	1621	c.1222T>G	c.(1222-1224)TTT>GTT	p.F408V	C1orf94_uc001bxt.2_Missense_Mutation_p.F598V	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	408							protein binding				0		Myeloproliferative disorder(586;0.0393)				TGGCATAAACTTTTAGATCTC	0.498													G	34684357	T	G	34684357	3	3	174	1	0	0	0	0	1	0	0	0	2071	1609	56	5	1818	5	C1orf94	1	34684357	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	23676198	34684357	214566264	2	95096											
FGGY	55277	broad.mit.edu	37	chr1	59812017	59812018	+	Frame_Shift_Ins	INS	-	-	G													cagtgtcctccagtacgtcgINSggggggtgatgtctgtggaa					rs145440779	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:59812016_59812017C>CG	uc009wac.3	+	3	623_624	c.411_412C>CG	c.(409-414)gtcgggfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Ins_p.V137fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	137					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)					TCCAGTACGTCGGGGGGGTGAT	0.5													G	59812018	-	G	59812017	7	5	174	1	0	1	1	0	0	0	0	0	5871	1116	39	0	422	0	FGGY	1	59812017	Frame_Shift_Ins	INS	-	TCGA-CG-4444-01A-01D-1158-08	25127660	59812017	189438604	3	95097											
NEGR1	257194	broad.mit.edu	37	chr1	72076709	72076709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataatcacaaagtcctcacTtcttctctcctttgtaccat	2	13	4	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:72076709T>G	uc001dfw.2	-	5	888	c.788A>C	c.(787-789)AAG>ACG	p.K263T	NEGR1_uc001dfv.2_Missense_Mutation_p.K135T|NEGR1_uc010oqs.1_Missense_Mutation_p.K219T	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	263	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		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)		AAGTCCTCACTTCTTCTCTCC	0.453													G	72076709	T	G	72076709	3	3	174	1	0	0	0	0	1	0	0	0	10317	1623	56	5	288	5	NEGR1	1	72076709	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	12264692	72076709	177173912	4	95098											
COL24A1	255631	broad.mit.edu	37	chr1	86307783	86307783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctggcaatccagaggGtcctggttggccctgatggc	15	11	0	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:86307783G>T	uc001dlj.2	-	41	3580	c.3538C>A	c.(3538-3540)CCC>ACC	p.P1180T	COL24A1_uc001dli.2_Missense_Mutation_p.P316T|COL24A1_uc010osd.1_Missense_Mutation_p.P480T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1180	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATCCAGAGGGTCCTGGTTGG	0.368													T	86307783	G	T	86307783	3	4	174	1	0	0	0	0	1	0	0	0	3683	1261	44	5	1686	5	COL24A1	1	86307783	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	14231074	86307783	162942838	5	95099											
HFM1	164045	broad.mit.edu	37	chr1	91846476	91846476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatacttacatcatcaAaggccttggactgtatatag	6	7	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:91846476A>C	uc001doa.3	-	7	966	c.866T>G	c.(865-867)TTT>TGT	p.F289C	HFM1_uc010osu.1_5'UTR|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.F289C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	289							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		TACATCATCAAAGGCCTTGGA	0.164													C	91846476	A	C	91846476	3	2	174	1	0	0	0	0	1	0	0	0	7083	14	1	5	3573	5	HFM1	1	91846476	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	5538693	91846476	157404145	6	95100											
ALG14	199857	broad.mit.edu	37	chr1	95530569	95530569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggatctcagtggtatgCccacctggaaaaaatatcag	9	10	3	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:95530569C>T	uc001dra.2	-	2	194	c.141G>A	c.(139-141)GGG>GGA	p.G47G		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	asparagine-linked glycosylation 14 homolog	47	Cytoplasmic (Potential).				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				0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CAGTGGTATGCCCACCTGGAA	0.423													T	95530569	C	T	95530569	2	4	174	1	0	0	0	0	0	0	0	1	516	726	26	2		2	ALG14	1	95530569	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	3684093	95530569	153720052	7	95101											
SPAG17	200162	broad.mit.edu	37	chr1	118640394	118640394	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcaggtttctcattatTcaggactggttccaagtact	8	8	3	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:118640394T>A	uc001ehk.2	-	7	978	c.910A>T	c.(910-912)AAT>TAT	p.N304Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	304						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TTCTCATTATTCAGGACTGGT	0.363													A	118640394	T	A	118640394	3	1	174	1	0	0	0	0	1	0	0	0	14979	1783	62	5	5929	5	SPAG17	1	118640394	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	23109825	118640394	130610227	8	95102											
INTS3	65123	broad.mit.edu	37	chr1	153727151	153727151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcagtcaagaacatcccGaaaattcctagcatgtcgtc	6	12	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:153727151G>A	uc009wom.2	+	10	1114	c.893G>A	c.(892-894)CGA>CAA	p.R298Q	INTS3_uc001fct.2_Missense_Mutation_p.R298Q|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Missense_Mutation_p.R92Q|INTS3_uc010peb.1_Missense_Mutation_p.R92Q|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	299					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	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)			AGAACATCCCGAAAATTCCTA	0.458													A	153727151	G	A	153727151	3	1	174	1	0	0	0	0	1	0	0	0	7779	1058	37	1	927	1	INTS3	1	153727151	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	35086757	153727151	95523470	9	95103											
HMCN1	83872	broad.mit.edu	37	chr1	186026410	186026410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcacctgaaaatattAgtgtggtagaaaagaactca	9	6	2	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:186026410A>C	uc001grq.1	+	46	7418	c.7189A>C	c.(7189-7191)AGT>CGT	p.S2397R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2397	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGAAAATATTAGTGTGGTAGA	0.413													C	186026410	A	C	186026410	3	2	174	1	0	0	0	0	1	0	0	0	7220	420	15	5	7371	5	HMCN1	1	186026410	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	32299259	186026410	63224211	10	95104											
RGS18	64407	broad.mit.edu	37	chr1	192127818	192127818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaatatgtgtgaatcaaaAgaaaaaacttttttcaagtt	5	3	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:192127818A>C	uc001gsg.2	+	1	227	c.51A>C	c.(49-51)AAA>AAC	p.K17N		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	17					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						GTGAATCAAAAGAAAAAACTT	0.289													C	192127818	A	C	192127818	3	2	174	1	0	0	0	0	1	0	0	0	13300	69	3	5	53	5	RGS18	1	192127818	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	6101408	192127818	57122803	11	95105											
USH2A	7399	broad.mit.edu	37	chr1	216373111	216373111	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaacagcccccgctagtAcacgcctgtacagaaaaatc	7	13	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:216373111A>G	uc001hku.1	-	17	4056	c.3669T>C	c.(3667-3669)TGT>TGC	p.C1223C	USH2A_uc001hkv.2_Silent_p.C1223C	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1223	Extracellular (Potential).|Fibronectin type-III 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			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCGCTAGTACACGCCTGTA	0.498										HNSCC(13;0.011)			G	216373111	A	G	216373111	2	3	174	1	0	0	0	0	0	0	0	1	17033	389	14	3		3	USH2A	1	216373111	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	24245293	216373111	32877510	12	95106											
SIPA1L2	57568	broad.mit.edu	37	chr1	232577524	232577524	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccttattacccgggtgcctGcttgcttccatggtgtcttc	9	13	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:232577524G>C	uc001hvg.2	-	11	3686	c.3528C>G	c.(3526-3528)AGC>AGG	p.S1176R	SIPA1L2_uc001hvf.2_Missense_Mutation_p.S250R	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1176					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCGGGTGCCTGCTTGCTTCCA	0.552													C	232577524	G	C	232577524	3	2	174	1	0	0	0	0	1	0	0	0	14330	1310	46	5	1684	5	SIPA1L2	1	232577524	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	16204413	232577524	16673097	13	95107											
RYR2	6262	broad.mit.edu	37	chr1	237804268	237804268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccttctattcagctttgaTtgacctcttgggacgctgtg	10	10	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:237804268T>G	uc001hyl.1	+	47	7307	c.7187T>G	c.(7186-7188)ATT>AGT	p.I2396S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2396	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TCAGCTTTGATTGACCTCTTG	0.448													G	237804268	T	G	237804268	3	3	174	1	0	0	0	0	1	0	0	0	13769	1493	52	5	7373	5	RYR2	1	237804268	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	5226744	237804268	11446353	14	95108											
GREM2	64388	broad.mit.edu	37	chr1	240656338	240656338	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcaccttctggattttcttGagtcggaagggtgggtccag	13	8	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:240656338G>C	uc001hys.2	-	2	718	c.438C>G	c.(436-438)CTC>CTG	p.L146L		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	146	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGATTTTCTTGAGTCGGAAGG	0.617													C	240656338	G	C	240656338	2	2	174	1	0	0	0	0	0	0	0	1	6762	1277	45	5		5	GREM2	1	240656338	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	2852070	240656338	8594283	15	95109											
OR2W5	441932	broad.mit.edu	37	chr1	247655335	247655335	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgaaggggaccatgaAgaaacttctggggtgggaga	18	4	1	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:247655335A>C	uc001icz.1	+	1	906	c.906A>C	c.(904-906)GAA>GAC	p.E302D		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	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)			GGGACCATGAAGAAACTTCTG	0.502													C	247655335	A	C	247655335	3	2	174	1	0	0	0	0	1	0	0	0	11034	69	3	5	908	5	OR2W5	1	247655335	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	6998997	247655335	1595286	16	95110											
OR13G1	441933	broad.mit.edu	37	chr1	247835493	247835493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggaagctgtacaccatcGggtttaatgtgggagtcaca	12	8	2	0	rs151003275		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:247835493G>A	uc001idi.1	-	1	851	c.851C>T	c.(850-852)CCG>CTG	p.P284L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			GTACACCATCGGGTTTAATGT	0.443													A	247835493	G	A	247835493	3	1	174	1	0	0	0	0	1	0	0	0	10942	1116	39	1	76	1	OR13G1	1	247835493	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	180158	247835493	1415128	17	95111											
OR2M5	127059	broad.mit.edu	37	chr1	248309088	248309088	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgtttttcctgttgcaatCatcatcgcttcctatgctcg	6	11	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr1:248309088C>A	uc010pze.1	+	1	639	c.639C>A	c.(637-639)ATC>ATA	p.I213I		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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)			CTGTTGCAATCATCATCGCTT	0.423													A	248309088	C	A	248309088	2	1	174	1	0	0	0	0	0	0	0	1	11013	816	29	5		5	OR2M5	1	248309088	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	473595	248309088	941533	18	95112											
APOB	338	broad.mit.edu	37	chr2	21230450	21230450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaattttggttgtacTtatactgattgaacctagca	8	6	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:21230450T>G	uc002red.2	-	26	9418	c.9290A>C	c.(9289-9291)AAG>ACG	p.K3097T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3097					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGTTGTACTTATACTGATT	0.398													G	21230450	T	G	21230450	3	3	174	1	0	0	0	0	1	0	0	0	785	1609	56	5	4417	5	APOB	2	21230450	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08		21230450	221968923	19	95113											
OTOF	9381	broad.mit.edu	37	chr2	26685000	26685000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgtgaagaagtcgtcgtCctccaagaccacctcatctg	8	15	2	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:26685000C>T	uc002rhk.2	-	42	5369	c.5242G>A	c.(5242-5244)GAC>AAC	p.D1748N	OTOF_uc010yla.1_Missense_Mutation_p.D478N|OTOF_uc002rhh.2_Missense_Mutation_p.D981N|OTOF_uc002rhi.2_Missense_Mutation_p.D1058N|OTOF_uc002rhj.2_Missense_Mutation_p.D981N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1748	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTCGTCGTCCTCCAAGACC	0.607													T	26685000	C	T	26685000	3	4	174	1	0	0	0	0	1	0	0	0	11303	855	30	4	956	4	OTOF	2	26685000	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	5454550	26685000	216514373	20	95114											
DPYSL5	56896	broad.mit.edu	37	chr2	27156127	27156127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgtttcttgtgtttagaCtcactgtccaatctacctgg	7	11	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:27156127C>A	uc002rhu.3	+	7	874	c.716C>A	c.(715-717)ACT>AAT	p.T239N	DPYSL5_uc002rhv.3_Missense_Mutation_p.T239N	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	239					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTTTAGACTCACTGTCCA	0.517													A	27156127	C	A	27156127	3	1	174	1	0	0	0	0	1	0	0	0	4750	579	20	5	738	5	DPYSL5	2	27156127	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	471127	27156127	216043246	21	95115											
THADA	63892	broad.mit.edu	37	chr2	43802126	43802126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaattagtccaggatgctaAgattctagacagaaacattt	8	6	1	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:43802126A>G	uc002rsw.3	-	11	1430	c.1078T>C	c.(1078-1080)TTA>CTA	p.L360L	THADA_uc002rsx.3_Silent_p.L360L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L70L|THADA_uc002rta.2_Silent_p.L70L|THADA_uc002rtb.1_Silent_p.L360L|THADA_uc002rtc.3_Silent_p.L360L|THADA_uc002rtd.2_Silent_p.L360L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	360							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGGATGCTAAGATTCTAGAC	0.388													G	43802126	A	G	43802126	2	3	174	1	0	0	0	0	0	0	0	1	15837	69	3	3		3	THADA	2	43802126	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	16645999	43802126	199397247	22	95116											
FSHR	2492	broad.mit.edu	37	chr2	49216184	49216184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggatgtttatgttatcTtgaatgtcactagaagaaag	11	3	2	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:49216184T>C	uc002rww.2	-	6	530	c.456A>G	c.(454-456)CAA>CAG	p.Q152Q	FSHR_uc002rwx.2_Silent_p.Q152Q|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	152	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	TTATGTTATCTTGAATGTCAC	0.363									Gonadal_Dysgenesis_46_XX				C	49216184	T	C	49216184	2	2	174	1	0	0	0	0	0	0	0	1	6073	1606	56	3		3	FSHR	2	49216184	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	5414058	49216184	193983189	23	95117											
AFF3	3899	broad.mit.edu	37	chr2	100623244	100623244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcatcaggggcctgatcTtggccgtccattggcctcac	11	14	4	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:100623244T>C	uc002tag.2	-	6	959	c.723A>G	c.(721-723)CAA>CAG	p.Q241Q	AFF3_uc002taf.2_Silent_p.Q266Q|AFF3_uc010fiq.1_Silent_p.Q241Q|AFF3_uc010yvr.1_Silent_p.Q395Q|AFF3_uc002tah.1_Silent_p.Q266Q|AFF3_uc010fir.1_Silent_p.Q318Q|AFF3_uc002tai.2_Silent_p.Q163Q	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	241					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GGGCCTGATCTTGGCCGTCCA	0.577													C	100623244	T	C	100623244	2	2	174	1	0	0	0	0	0	0	0	1	358	1606	56	3		3	AFF3	2	100623244	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	51407060	100623244	142576129	24	95118											
NCKAP5	344148	broad.mit.edu	37	chr2	133540288	133540288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcaaaggcaacttacTtgggctcccatgctgactgc	9	13	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:133540288T>G	uc002ttp.2	-	14	4470	c.4096A>C	c.(4096-4098)AGT>CGT	p.S1366R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1366							protein binding				0						GGCAACTTACTTGGGCTCCCA	0.632													G	133540288	T	G	133540288	3	3	174	1	0	0	0	0	1	0	0	0	10223	1609	56	5	1661	5	NCKAP5	2	133540288	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	32917044	133540288	109659085	25	95119											
LRP1B	53353	broad.mit.edu	37	chr2	141625375	141625375	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctatcatgtttgttccatCatagagggctgaataaatag	8	6	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:141625375C>T	uc002tvj.1	-	27	5335	c.4363G>A	c.(4363-4365)GAT>AAT	p.D1455N	LRP1B_uc010fnl.1_Missense_Mutation_p.D637N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1455	Extracellular (Potential).|LDL-receptor class B 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TTTGTTCCATCATAGAGGGCT	0.393										TSP Lung(27;0.18)			T	141625375	C	T	141625375	3	4	174	1	0	0	0	0	1	0	0	0	8955	826	29	4	9696	4	LRP1B	2	141625375	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	8085087	141625375	101573998	26	95120											
ORC4L	5000	broad.mit.edu	37	chr2	148715948	148715948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgtcattgatctgcagCagtcctaaaataaagtccat	6	8	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:148715948C>T	uc002twi.2	-	6	441	c.306G>A	c.(304-306)CTG>CTA	p.L102L	ORC4L_uc002twj.2_Silent_p.L102L|ORC4L_uc010zbo.1_Silent_p.L28L|ORC4L_uc010zbp.1_5'UTR|ORC4L_uc010fnr.2_Silent_p.L102L|ORC4L_uc010zbq.1_Silent_p.L18L|ORC4L_uc002twk.2_Silent_p.L102L|ORC4L_uc010zbr.1_Silent_p.L102L	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	102					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		TGATCTGCAGCAGTCCTAAAA	0.308													T	148715948	C	T	148715948	2	4	174	1	0	0	0	0	0	0	0	1	11264	697	25	2		2	ORC4L	2	148715948	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	7090573	148715948	94483425	27	95121											
FIGN	55137	broad.mit.edu	37	chr2	164466918	164466918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccttgggtgataatcTcattggttaccaggtcgatg	13	7	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:164466918T>G	uc002uck.1	-	3	1735	c.1424A>C	c.(1423-1425)GAG>GCG	p.E475A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	475						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GGTGATAATCTCATTGGTTAC	0.517													G	164466918	T	G	164466918	3	3	174	1	0	0	0	0	1	0	0	0	5891	1551	54	5	859	5	FIGN	2	164466918	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	15750970	164466918	78732455	28	95122											
DHRS9	10170	broad.mit.edu	37	chr2	169940025	169940025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgtctccagtgttggagGtcgccttgcaatcgttggag	13	8	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:169940025G>A	uc002uep.2	+	6	2004	c.500G>A	c.(499-501)GGT>GAT	p.G167D	DHRS9_uc002ueq.2_Missense_Mutation_p.G167D|DHRS9_uc010zdc.1_Missense_Mutation_p.G227D|DHRS9_uc010zdd.1_Missense_Mutation_p.G167D|DHRS9_uc010zde.1_Missense_Mutation_p.G167D	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	167					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				0						AGTGTTGGAGGTCGCCTTGCA	0.408													A	169940025	G	A	169940025	3	1	174	1	0	0	0	0	1	0	0	0	4498	1261	44	4	506	4	DHRS9	2	169940025	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	5473107	169940025	73259348	29	95123											
GAD1	2571	broad.mit.edu	37	chr2	171702021	171702021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcttgctgacagggggcGccatatccaacatgtacagc	11	13	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:171702021G>A	uc002ugi.2	+	8	1179	c.757G>A	c.(757-759)GCC>ACC	p.A253T		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	253					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			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACAGGGGGCGCCATATCCAA	0.512													A	171702021	G	A	171702021	3	1	174	1	0	0	0	0	1	0	0	0	6179	1087	38	1	824	1	GAD1	2	171702021	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	1761996	171702021	71497352	30	95124											
TTN	7273	broad.mit.edu	37	chr2	179419406	179419406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatcatcagctggaggCcgccagagaagggtgatctt	12	12	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:179419406C>T	uc010zfg.1	-	281	81188	c.80964G>A	c.(80962-80964)CGG>CGA	p.R26988R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R20683R|TTN_uc010zfi.1_Silent_p.R20616R|TTN_uc010zfj.1_Silent_p.R20491R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27915							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTGGAGGCCGCCAGAGAA	0.478													T	179419406	C	T	179419406	2	4	174	1	0	0	0	0	0	0	0	1	16732	726	26	2		2	TTN	2	179419406	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	7717385	179419406	63779967	31	95125											
TTN	7273	broad.mit.edu	37	chr2	179466785	179466785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgattttggtgttgggcGtcccttgatgacagcaggaa	14	6	0	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:179466785G>A	uc010zfg.1	-	233	47733	c.47509C>T	c.(47509-47511)CGC>TGC	p.R15837C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9532C|TTN_uc010zfi.1_Missense_Mutation_p.R9465C|TTN_uc010zfj.1_Missense_Mutation_p.R9340C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16764							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGTTGGGCGTCCCTTGATG	0.413													A	179466785	G	A	179466785	3	1	174	1	0	0	0	0	1	0	0	0	16732	1145	40	1	52796	1	TTN	2	179466785	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	47379	179466785	63732588	32	95126											
TTN	7273	broad.mit.edu	37	chr2	179482583	179482583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcgattttgggctctcactCggaaactgtactcctgtcct	8	12	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:179482583C>A	uc010zfg.1	-	202	40015	c.39791G>T	c.(39790-39792)CGA>CTA	p.R13264L	TTN_uc010zfh.1_Missense_Mutation_p.R6959L|TTN_uc010zfi.1_Missense_Mutation_p.R6892L|TTN_uc010zfj.1_Missense_Mutation_p.R6767L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14191							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTCTCACTCGGAAACTGTA	0.468													A	179482583	C	A	179482583	3	1	174	1	0	0	0	0	1	0	0	0	16732	884	31	5	60638	5	TTN	2	179482583	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	15798	179482583	63716790	33	95127											
TTN	7273	broad.mit.edu	37	chr2	179579038	179579038	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagaacggatagcgtggcGaagcactcttgcatcccagc	12	13	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:179579038G>A	uc010zfg.1	-	88	22955	c.22731C>T	c.(22729-22731)TTC>TTT	p.F7577F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.F4238F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8504							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGCGTGGCGAAGCACTCTT	0.408													A	179579038	G	A	179579038	2	1	174	1	0	0	0	0	0	0	0	1	16732	1049	37	1		1	TTN	2	179579038	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	96455	179579038	63620335	34	95128											
TTN	7273	broad.mit.edu	37	chr2	179594123	179594123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggttatatggaggttaaAcacagacactctgtcggtca	10	8	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:179594123A>C	uc010zfg.1	-	61	15252	c.15028T>G	c.(15028-15030)TTT>GTT	p.F5010V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F1671V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5937							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGGTTAAACACAGACACT	0.458													C	179594123	A	C	179594123	3	2	174	1	0	0	0	0	1	0	0	0	16732	43	2	5	85965	5	TTN	2	179594123	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	15085	179594123	63605250	35	95129											
MDH1B	130752	broad.mit.edu	37	chr2	207620121	207620121	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggcttttgagatgttcTtccgcctgcttgttgtcaaa	9	9	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:207620121T>G	uc002vbs.2	-	5	577	c.522A>C	c.(520-522)GAA>GAC	p.E174D	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.E174D|MDH1B_uc010fuj.2_Missense_Mutation_p.E76D|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	174					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGAGATGTTCTTCCGCCTGCT	0.522													G	207620121	T	G	207620121	3	3	174	1	0	0	0	0	1	0	0	0	9409	1606	56	5	1066	5	MDH1B	2	207620121	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	28025998	207620121	35579252	36	95130											
CPS1	1373	broad.mit.edu	37	chr2	211507265	211507265	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatccgcacactgcgtcaacTtggcaagaagacggtggtgg	13	10	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:211507265T>G	uc002vee.3	+	25	3149	c.3017T>G	c.(3016-3018)CTT>CGT	p.L1006R	CPS1_uc010fur.2_Missense_Mutation_p.L1012R|CPS1_uc010fus.2_Missense_Mutation_p.L555R	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1006					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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTGCGTCAACTTGGCAAGAAG	0.473													G	211507265	T	G	211507265	3	3	174	1	0	0	0	0	1	0	0	0	3823	1609	56	5	3137	5	CPS1	2	211507265	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	3887144	211507265	31692108	37	95131											
XRCC5	7520	broad.mit.edu	37	chr2	217012887	217012887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatatgctgaatcctcccGctgaggtgacaacaaaaagt	10	9	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:217012887G>A	uc002vfy.2	+	14	1698	c.1558G>A	c.(1558-1560)GCT>ACT	p.A520T	XRCC5_uc002vfz.2_Missense_Mutation_p.A406T	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	520					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GAATCCTCCCGCTGAGGTGAC	0.443								Direct_reversal_of_damage|NHEJ					A	217012887	G	A	217012887	3	1	174	1	0	0	0	0	1	0	0	0	17453	1087	38	1	1612	1	XRCC5	2	217012887	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	5505622	217012887	26186486	38	95132											
DNER	92737	broad.mit.edu	37	chr2	230253043	230253043	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttataaccattgggctggTccaggcagctcccaccatgg	11	12	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:230253043T>A	uc002vpv.2	-	11	1940	c.1793A>T	c.(1792-1794)GAC>GTC	p.D598V		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	598	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTGGGCTGGTCCAGGCAGCT	0.488													A	230253043	T	A	230253043	3	1	174	1	0	0	0	0	1	0	0	0	4667	1667	58	5	432	5	DNER	2	230253043	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	13240156	230253043	12946330	39	95133											
DNER	92737	broad.mit.edu	37	chr2	230282864	230282864	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acacactcatagccattaacGaggtccctgcaggtggctgc	10	13	1	0	rs138648634		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr2:230282864G>C	uc002vpv.2	-	9	1716	c.1569C>G	c.(1567-1569)CTC>CTG	p.L523L		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	523	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGCCATTAACGAGGTCCCTGC	0.522													C	230282864	G	C	230282864	2	2	174	1	0	0	0	0	0	0	0	1	4667	1045	37	5		5	DNER	2	230282864	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	29821	230282864	12916509	40	95134											
KCNH8	131096	broad.mit.edu	37	chr3	19389349	19389349	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttggcaacgttttatGttgctgtgactgtaccttac	9	7	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:19389349G>C	uc003cbk.1	+	5	898	c.703G>C	c.(703-705)GTT>CTT	p.V235L	KCNH8_uc011awe.1_Missense_Mutation_p.V235L|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	235	Helical; Name=Segment S1; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AACGTTTTATGTTGCTGTGAC	0.408													C	19389349	G	C	19389349	3	2	174	1	0	0	0	0	1	0	0	0	8038	1377	48	5	721	5	KCNH8	3	19389349	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08		19389349	178633081	41	95135											
TRANK1	9881	broad.mit.edu	37	chr3	36898133	36898135	+	In_Frame_Del	DEL	ATG	ATG	-													tgctgaagctgtggaacttcAtgatgttatattctgtctcc							TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:36898132_36898134CATG>C	uc003cgj.3	-	11	3195_3197	c.2947_2949CATG>G	c.(2947-2949)atg>G	p.M983del		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	983					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						TGTGGAACTTCATGATGTTATAT	0.542													-	36898135	ATG	-	36898133	7	5	174	1	0	1	0	1	0	0	0	0	16451	217	8	0	5877	0	TRANK1	3	36898133	In_Frame_Del	DEL	ATG	TCGA-CG-4444-01A-01D-1158-08	17508784	36898133	161124297	42	95136											
DOCK3	1795	broad.mit.edu	37	chr3	51399300	51399300	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcacagccccatgaacTtgatgggcacaggccgccat	10	14	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:51399300T>G	uc011bds.1	+	48	5040	c.5017T>G	c.(5017-5019)TTG>GTG	p.L1673V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1673						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCCATGAACTTGATGGGCAC	0.562													G	51399300	T	G	51399300	3	3	174	1	0	0	0	0	1	0	0	0	4688	1606	56	5	5207	5	DOCK3	3	51399300	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	14501167	51399300	146623130	43	95137											
ROBO1	6091	broad.mit.edu	37	chr3	78667120	78667120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccatatctgagaccaggggtCctgaaatgtagccataggta	11	9	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:78667120C>A	uc003dqe.2	-	27	4155	c.3947G>T	c.(3946-3948)GGA>GTA	p.G1316V	ROBO1_uc003dqb.2_Missense_Mutation_p.G1277V|ROBO1_uc003dqc.2_Missense_Mutation_p.G1216V|ROBO1_uc003dqd.2_Missense_Mutation_p.G1271V|ROBO1_uc010hoh.2_Missense_Mutation_p.G508V|ROBO1_uc011bgl.1_Missense_Mutation_p.G888V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1316	Cytoplasmic (Potential).				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			large_intestine(2)	2		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)		GACCAGGGGTCCTGAAATGTA	0.522													A	78667120	C	A	78667120	3	1	174	1	0	0	0	0	1	0	0	0	13513	855	30	5	1028	5	ROBO1	3	78667120	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	27267820	78667120	119355310	44	95138											
EPHA3	2042	broad.mit.edu	37	chr3	89480445	89480445	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caacagtaacttggtgtgtaAggtttctgatttcggacttt	10	6	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:89480445A>T	uc003dqy.2	+	13	2507	c.2282A>T	c.(2281-2283)AAG>ATG	p.K761M	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	761	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.K761N(1)		lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		TTGGTGTGTAAGGTTTCTGAT	0.453										TSP Lung(6;0.00050)			T	89480445	A	T	89480445	3	4	174	1	0	0	0	0	1	0	0	0	5168	72	3	5	2358	5	EPHA3	3	89480445	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	10813325	89480445	108541985	45	95139											
MSL2	55167	broad.mit.edu	37	chr3	135871486	135871486	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcaccagctacaggaAggtttcatcatcattttctt	6	10	5	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:135871486A>C	uc003eqx.1	-	2	970	c.237T>G	c.(235-237)CCT>CCG	p.P79P	MSL2_uc011bmb.1_Silent_p.P5P	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	79	RING-type.				histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						AGCTACAGGAAGGTTTCATCA	0.408													C	135871486	A	C	135871486	2	2	174	1	0	0	0	0	0	0	0	1	9878	59	3	5		5	MSL2	3	135871486	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	46391041	135871486	62150944	46	95140											
IGSF10	285313	broad.mit.edu	37	chr3	151165623	151165623	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgatagttgtgcctcttacTtgtgcttgaggtgtgttttc	11	8	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:151165623T>A	uc011bod.1	-	4	2146	c.2146A>T	c.(2146-2148)AGT>TGT	p.S716C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	716					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCTCTTACTTGTGCTTGAG	0.493													A	151165623	T	A	151165623	3	1	174	1	0	0	0	0	1	0	0	0	7597	1609	56	5	5785	5	IGSF10	3	151165623	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	15294137	151165623	46856807	47	95141											
SLITRK3	22865	broad.mit.edu	37	chr3	164907653	164907653	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacttgtattcgacagaAgaagcagtaaaatgaacaga	11	5	0	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:164907653A>C	uc003fej.3	-	2	1410	c.966T>G	c.(964-966)TCT>TCG	p.S322S	SLITRK3_uc003fek.2_Silent_p.S322S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	322	Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						ATTCGACAGAAGAAGCAGTAA	0.463										HNSCC(40;0.11)			C	164907653	A	C	164907653	2	2	174	1	0	0	0	0	0	0	0	1	14744	59	3	5		5	SLITRK3	3	164907653	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	13742030	164907653	33114777	48	95142											
CCDC39	339829	broad.mit.edu	37	chr3	180379665	180379665	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacttctttatcacttttcTtttccagtattgaagccatc	3	10	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr3:180379665T>G	uc010hxe.2	-	3	456	c.341A>C	c.(340-342)AAG>ACG	p.K114T	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	114	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATCACTTTTCTTTTCCAGTAT	0.338													G	180379665	T	G	180379665	3	3	174	1	0	0	0	0	1	0	0	0	2811	1609	56	5	2556	5	CCDC39	3	180379665	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	15472012	180379665	17642765	49	95143											
FGFR3	2261	broad.mit.edu	37	chr4	1807537	1807537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgggagtttctgcgggCgcggcggcccccgggcctgg	19	15	1	0	rs146672976		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:1807537C>T	uc003gdr.3	+	13	1962	c.1706C>T	c.(1705-1707)GCG>GTG	p.A569V	FGFR3_uc003gdu.2_Missense_Mutation_p.A571V|FGFR3_uc003gds.3_Missense_Mutation_p.A457V|FGFR3_uc003gdq.3_Missense_Mutation_p.A570V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	569	Protein kinase.|Cytoplasmic (Potential).				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			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		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)	TTTCTgcgggcgcggcggccc	0.582		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				T	1807537	C	T	1807537	3	4	174	1	0	0	0	0	1	0	0	0	5867	768	27	1	1907	1	FGFR3	4	1807537	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08		1807537	189346739	50	95144											
NOP14	8602	broad.mit.edu	37	chr4	2948261	2948261	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaggaaacatctggcaaaGatgatataagtgcctgttaa	9	6	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:2948261G>T	uc003ggj.1	-	11	1585	c.1513C>A	c.(1513-1515)CTT>ATT	p.L505I	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.L251I|NOP14_uc003ggk.3_Missense_Mutation_p.L505I|NOP14_uc003ggl.2_Missense_Mutation_p.L505I	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	505					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			pancreas(1)	1						ATCTGGCAAAGATGATATAAG	0.428													T	2948261	G	T	2948261	3	4	174	1	0	0	0	0	1	0	0	0	10536	942	33	5	1092	5	NOP14	4	2948261	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	1140724	2948261	188206015	51	95145											
KIAA1211	57482	broad.mit.edu	37	chr4	57182325	57182325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcagggccgcctgcagCggggagcgctcgtggagaga	20	10	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:57182325C>T	uc003hbk.2	+	8	3048	c.2657C>T	c.(2656-2658)GCG>GTG	p.A886V	KIAA1211_uc010iha.2_Missense_Mutation_p.A879V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A796V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A772V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	886										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CCGCCTGCAGCGGGGAGCGCT	0.617													T	57182325	C	T	57182325	3	4	174	1	0	0	0	0	1	0	0	0	8215	768	27	1	2675	1	KIAA1211	4	57182325	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	54234064	57182325	133971951	52	95146											
EPHA5	2044	broad.mit.edu	37	chr4	66189893	66189893	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaggctgttcatgatcTtcttctggtgaccgacaaga	10	9	4	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:66189893T>A	uc003hcy.2	-	18	3246	c.3053A>T	c.(3052-3054)AAG>ATG	p.K1018M	EPHA5_uc003hcx.2_Missense_Mutation_p.K950M|EPHA5_uc003hcz.2_Missense_Mutation_p.K996M|EPHA5_uc011cah.1_Missense_Mutation_p.K1019M|EPHA5_uc011cai.1_Missense_Mutation_p.K997M	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1018	Cytoplasmic (Potential).|SAM.				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GTTCATGATCTTCTTCTGGTG	0.428										TSP Lung(17;0.13)			A	66189893	T	A	66189893	3	1	174	1	0	0	0	0	1	0	0	0	5170	1609	56	5	64	5	EPHA5	4	66189893	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	9007568	66189893	124964383	53	95147											
STAP1	26228	broad.mit.edu	37	chr4	68441207	68441207	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttgccgaaagaggaagtAcaactgaaggtgagcgagga	15	5	0	3	rs140242248		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:68441207A>C	uc003hde.3	+	3	379	c.297A>C	c.(295-297)GTA>GTC	p.V99V	STAP1_uc003hdf.2_Silent_p.V99V	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	99	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						AAGAGGAAGTACAACTGAAGG	0.393													C	68441207	A	C	68441207	2	2	174	1	0	0	0	0	0	0	0	1	15251	378	14	5		5	STAP1	4	68441207	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	2251314	68441207	122713069	54	95148											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68688159	68688159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccccagcttactatccCcacaataaaccaaagccgcc	3	18	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:68688159C>T	uc003hdq.2	-	10	1218	c.1153G>A	c.(1153-1155)GGG>AGG	p.G385R	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.G166R|TMPRSS11D_uc011caj.1_Missense_Mutation_p.G268R	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	385	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CTTACTATCCCCACAATAAAC	0.478													T	68688159	C	T	68688159	3	4	174	1	0	0	0	0	1	0	0	0	16238	623	22	4	107	4	TMPRSS11D	4	68688159	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	246952	68688159	122466117	55	95149											
EXOSC9	5393	broad.mit.edu	37	chr4	122722600	122722600	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggaaacgccactctcAaactgcgaacgccgcttcct	8	14	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:122722600A>C	uc003iea.2	+	1	129	c.21A>C	c.(19-21)TCA>TCC	p.S7S	EXOSC9_uc003idz.2_Silent_p.S7S|EXOSC9_uc003ieb.2_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	7	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						CGCCACTCTCAAACTGCGAAC	0.607													C	122722600	A	C	122722600	2	2	174	1	0	0	0	0	0	0	0	1	5321	117	5	5		5	EXOSC9	4	122722600	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	54034441	122722600	68431676	56	95150											
FAT4	79633	broad.mit.edu	37	chr4	126242602	126242602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaaaactgttggacGcctctttactattggacgac	9	8	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:126242602G>T	uc003ifj.3	+	1	5036	c.5036G>T	c.(5035-5037)CGC>CTC	p.R1679L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1679	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACTGTTGGACGCCTCTTTACT	0.453													T	126242602	G	T	126242602	3	4	174	1	0	0	0	0	1	0	0	0	5692	1087	38	5	5038	5	FAT4	4	126242602	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	3520002	126242602	64911674	57	95151											
GUCY1B3	2983	broad.mit.edu	37	chr4	156696213	156696213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgctgctgcaagcaaAgtcctcagtaagttgaatgc	11	8	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:156696213A>C	uc003ipc.2	+	3	338	c.171A>C	c.(169-171)AAA>AAC	p.K57N	GUCY1B3_uc011cio.1_Missense_Mutation_p.K57N|GUCY1B3_uc011cip.1_Missense_Mutation_p.K37N|GUCY1B3_uc003ipd.2_5'UTR|GUCY1B3_uc010iqf.2_Missense_Mutation_p.K57N|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	57					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTGCAAGCAAAGTCCTCAGTA	0.403													C	156696213	A	C	156696213	3	2	174	1	0	0	0	0	1	0	0	0	6895	69	3	5	181	5	GUCY1B3	4	156696213	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	30453611	156696213	34458063	58	95152											
TRIM60	166655	broad.mit.edu	37	chr4	165962283	165962283	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgacattactgggaAgtagaagtgggaaacaaacc	12	8	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr4:165962283A>C	uc003iqy.1	+	3	1229	c.1059A>C	c.(1057-1059)GAA>GAC	p.E353D	TRIM60_uc010iqx.1_Missense_Mutation_p.E353D	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	353	B30.2/SPRY.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ATTACTGGGAAGTAGAAGTGG	0.448													C	165962283	A	C	165962283	3	2	174	1	0	0	0	0	1	0	0	0	16532	69	3	5	1061	5	TRIM60	4	165962283	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	9266070	165962283	25191993	59	95153											
SLC9A3	6550	broad.mit.edu	37	chr5	484801	484801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccccccaggctcaccaCgaagaaggacactgggtaga	12	14	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:484801C>T	uc003jbe.2	-	5	878	c.766G>A	c.(766-768)GTG>ATG	p.V256M	SLC9A3_uc011clx.1_Missense_Mutation_p.V256M	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	256	Helical; Name=H/M6; (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGCTCACCACGAAGAAGGAC	0.677													T	484801	C	T	484801	3	4	174	1	0	0	0	0	1	0	0	0	14713	536	19	1	1790	1	SLC9A3	5	484801	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08		484801	180430459	60	95154											
CTNND2	1501	broad.mit.edu	37	chr5	10973668	10973668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacgtagttgccggtggacTtgagacccaggtgcatggtg	15	9	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:10973668T>G	uc003jfa.1	-	22	3720	c.3575A>C	c.(3574-3576)AAG>ACG	p.K1192T	CTNND2_uc010itt.2_Missense_Mutation_p.K1101T|CTNND2_uc011cmy.1_Missense_Mutation_p.K855T|CTNND2_uc011cmz.1_Missense_Mutation_p.K759T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.K784T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1192					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GCCGGTGGACTTGAGACCCAG	0.562													G	10973668	T	G	10973668	3	3	174	1	0	0	0	0	1	0	0	0	4020	1609	56	5	106	5	CTNND2	5	10973668	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	10488867	10973668	169941592	61	95155											
RXFP3	51289	broad.mit.edu	37	chr5	33936975	33936975	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtggtaacgcgtcgctgCagcttccggacttgtggtgg	16	10	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:33936975C>T	uc003jic.1	+	1	487	c.130C>T	c.(130-132)CAG>TAG	p.Q44*		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	44	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CGCGTCGCTGCAGCTTCCGGA	0.667													T	33936975	C	T	33936975	4	4	174	1	0	0	0	0	0	1	0	0	13761	711	25	2	132	2	RXFP3	5	33936975	Nonsense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	22963307	33936975	146978285	62	95156											
AGXT2	64902	broad.mit.edu	37	chr5	35047947	35047947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcaaggatcctgggagcGgaagtgaccaggcacaaggg	15	9	1	1	rs144847973		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:35047947G>A	uc003jjf.2	-	1	130	c.51C>T	c.(49-51)TCC>TCT	p.S17S	AGXT2_uc011com.1_Silent_p.S17S|AGXT2_uc011con.1_5'UTR	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	17					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			ovary(3)|skin(1)	4	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)	TCCTGGGAGCGGAAGTGACCA	0.552													A	35047947	G	A	35047947	2	1	174	1	0	0	0	0	0	0	0	1	405	1103	39	1		1	AGXT2	5	35047947	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	1110972	35047947	145867313	63	95157											
SPEF2	79925	broad.mit.edu	37	chr5	35649490	35649490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatgaaattaagaagttcGaagcattaataaaaaaggat	8	3	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:35649490G>A	uc003jjo.2	+	6	865	c.754G>A	c.(754-756)GAA>AAA	p.E252K	SPEF2_uc003jjn.1_Missense_Mutation_p.E252K|SPEF2_uc003jjq.3_Missense_Mutation_p.E252K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	252	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAGAAGTTCGAAGCATTAAT	0.318													A	35649490	G	A	35649490	3	1	174	1	0	0	0	0	1	0	0	0	15034	1059	37	1	776	1	SPEF2	5	35649490	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	601543	35649490	145265770	64	95158											
NNT	23530	broad.mit.edu	37	chr5	43700241	43700241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttggaattcacccagttgCaggccgaatgcctggtcagc	12	11	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:43700241C>A	uc003joe.2	+	20	3152	c.2897C>A	c.(2896-2898)GCA>GAA	p.A966E	NNT_uc003jof.2_Missense_Mutation_p.A966E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	966	Mitochondrial matrix.|NADP.				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			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	CACCCAGTTGCAGGCCGAATG	0.463													A	43700241	C	A	43700241	3	1	174	1	0	0	0	0	1	0	0	0	10510	710	25	5	2971	5	NNT	5	43700241	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	8050751	43700241	137215019	65	95159											
C5orf36	285600	broad.mit.edu	37	chr5	93856182	93856182	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgagtataacttaagcatTgtactttgatatccatgagc	7	7	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:93856182T>A	uc011cuk.1	-	5	998	c.741A>T	c.(739-741)ACA>ACT	p.T247T	C5orf36_uc003kkp.2_Silent_p.T247T	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	hypothetical protein LOC285600 isoform 1	247											0		all_cancers(142;2.12e-08)|all_epithelial(76;5.95e-11)|all_lung(232;0.000996)|Lung NSC(167;0.0108)|Ovarian(174;0.0218)|Colorectal(57;0.0329)|Breast(839;0.214)|Lung SC(612;0.236)		all cancers(79;3.96e-19)		ACTTAAGCATTGTACTTTGAT	0.318													A	93856182	T	A	93856182	2	1	174	1	0	0	0	0	0	0	0	1	2295	1799	63	5		5	C5orf36	5	93856182	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	50155941	93856182	87059078	66	95160											
FER	2241	broad.mit.edu	37	chr5	108295030	108295031	+	Silent	DNP	GC	GC	TT													aagaaatcaggtgtagttctGctgaatcctattcctaaggt							TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:108295030_108295031GC>TT	uc003kop.1	+	13	2022_2023	c.1638_1639GC>TT	c.(1636-1641)CTGCTG>CTTTTG	p.546_547LL>LL	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Silent_p.371_372LL>LL	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	546_547	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		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)		GTGTAGTTCTGCTGAATCCTAT	0.332													TT	108295031	GC	TT	108295030	2	4	174	1	0	0	0	0	0	0	0	1	5813	1306	46	5		5	FER	5	108295030	Silent	DNP	GC	TCGA-CG-4444-01A-01D-1158-08	14438848	108295030	72620230	67	95161											
FBN2	2201	broad.mit.edu	37	chr5	127648460	127648460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcctcgaggtccaaacTtcaggtagcagttgcccaca	8	14	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:127648460T>G	uc003kuu.2	-	37	5184	c.4745A>C	c.(4744-4746)AAG>ACG	p.K1582T		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1582	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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		AGGTCCAAACTTCAGGTAGCA	0.532													G	127648460	T	G	127648460	3	3	174	1	0	0	0	0	1	0	0	0	5703	1609	56	5	4109	5	FBN2	5	127648460	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	19353430	127648460	53266800	68	95162											
PCDHA6	56142	broad.mit.edu	37	chr5	140209052	140209052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggcgttcgcgcagcccgAgtacacagtgttcgtgaagg	14	12	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:140209052A>G	uc003lho.2	+	1	1403	c.1376A>G	c.(1375-1377)GAG>GGG	p.E459G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.E459G|PCDHA6_uc011dab.1_Missense_Mutation_p.E459G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	459	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGCCCGAGTACACAGTG	0.662													G	140209052	A	G	140209052	3	3	174	1	0	0	0	0	1	0	0	0	11528	304	11	3	1378	3	PCDHA6	5	140209052	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	12560592	140209052	40706208	69	95163											
PCDHA9	9752	broad.mit.edu	37	chr5	140229433	140229433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgcaccagcgttcgcgcagtc	13	14	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:140229433C>T	uc003lhu.2	+	1	2077	c.1353C>T	c.(1351-1353)AAC>AAT	p.N451N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.N451N	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	451	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672													T	140229433	C	T	140229433	2	4	174	1	0	0	0	0	0	0	0	1	11531	535	19	1		1	PCDHA9	5	140229433	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	20381	140229433	40685827	70	95164											
GPR151	134391	broad.mit.edu	37	chr5	145895420	145895420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgcagaaaacagcaggaggGagagatcagccaggctgaga	16	7	1	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:145895420G>T	uc003lod.1	-	1	257	c.257C>A	c.(256-258)TCC>TAC	p.S86Y		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	86	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCAGGAGGGAGAGATCAGC	0.502													T	145895420	G	T	145895420	3	4	174	1	0	0	0	0	1	0	0	0	6657	1174	41	5	1006	5	GPR151	5	145895420	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	5665987	145895420	35019840	71	95165											
ZFP2	80108	broad.mit.edu	37	chr5	178359587	178359587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcattaagaattcatccCttacagtgcatcagagaact	5	11	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr5:178359587C>A	uc003mjn.1	+	5	1782	c.1273C>A	c.(1273-1275)CTT>ATT	p.L425I	ZFP2_uc010jky.2_Missense_Mutation_p.L425I|ZFP2_uc010jkx.1_Missense_Mutation_p.L425I	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	425	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	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)		GAATTCATCCCTTACAGTGCA	0.418													A	178359587	C	A	178359587	3	1	174	1	0	0	0	0	1	0	0	0	17638	681	24	5	1275	5	ZFP2	5	178359587	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	32464167	178359587	2555673	72	95166											
CLIC5	53405	broad.mit.edu	37	chr6	45870858	45870858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtttggcgacatcagcGtaggccaactcgatctcact	11	12	2	0	rs150143344		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:45870858G>A	uc003oxv.3	-	6	1306	c.1200C>T	c.(1198-1200)TAC>TAT	p.Y400Y	CLIC5_uc003oxu.3_Silent_p.Y241Y	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	400	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						CGACATCAGCGTAGGCCAACT	0.577													A	45870858	G	A	45870858	2	1	174	1	0	0	0	0	0	0	0	1	3529	1140	40	1		1	CLIC5	6	45870858	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08		45870858	125244209	73	95167											
PKHD1	5314	broad.mit.edu	37	chr6	51524237	51524237	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcacagtgagggccaAgtgaatggaaacacctgagc	11	10	1	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:51524237A>C	uc003pah.1	-	61	10963	c.10687T>G	c.(10687-10689)TTG>GTG	p.L3563V		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3563	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTGAGGGCCAAGTGAATGGAA	0.408													C	51524237	A	C	51524237	3	2	174	1	0	0	0	0	1	0	0	0	11971	69	3	5	1565	5	PKHD1	6	51524237	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	5653379	51524237	119590830	74	95168											
PKHD1	5314	broad.mit.edu	37	chr6	51611659	51611659	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcatcgctatagcaActcttcacaaaactagaaaa	5	11	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:51611659A>C	uc003pah.1	-	59	10134	c.9858T>G	c.(9856-9858)AGT>AGG	p.S3286R	PKHD1_uc010jzn.1_Missense_Mutation_p.S1269R|PKHD1_uc003pai.2_Missense_Mutation_p.S3286R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3286	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CGCTATAGCAACTCTTCACAA	0.348													C	51611659	A	C	51611659	3	2	174	1	0	0	0	0	1	0	0	0	11971	40	2	5	2441	5	PKHD1	6	51611659	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	87422	51611659	119503408	75	95169											
DST	667	broad.mit.edu	37	chr6	56391317	56391317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagcactgctcacttcatTaagggagtccagtaaggctt	9	10	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:56391317T>G	uc003pdf.2	-	63	11642	c.11614A>C	c.(11614-11616)AAT>CAT	p.N3872H	DST_uc003pcz.3_Missense_Mutation_p.N3694H|DST_uc011dxj.1_Missense_Mutation_p.N3723H|DST_uc011dxk.1_Missense_Mutation_p.N3734H|DST_uc003pcy.3_Missense_Mutation_p.N3368H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5780					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCACTTCATTAAGGGAGTCC	0.423													G	56391317	T	G	56391317	3	3	174	1	0	0	0	0	1	0	0	0	4783	1754	61	5	5553	5	DST	6	56391317	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	4779658	56391317	114723750	76	95170											
RIMS1	22999	broad.mit.edu	37	chr6	72678732	72678732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgcaaaacaccaAgaaatgctgaaaaccagccc	7	14	0	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:72678732A>G	uc003pga.2	+	2	288	c.211A>G	c.(211-213)AGA>GGA	p.R71G		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	71	RabBD.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAAACACCAAGAAATGCTGA	0.453													G	72678732	A	G	72678732	3	3	174	1	0	0	0	0	1	0	0	0	13367	64	3	3	217	3	RIMS1	6	72678732	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	16287415	72678732	98436335	77	95171											
COL12A1	1303	broad.mit.edu	37	chr6	75797317	75797317	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atagccttgcccgttgtatgGgatgctggcacactgagaag	13	9	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:75797317G>C	uc003phs.2	-	65	9323	c.9157C>G	c.(9157-9159)CCA>GCA	p.P3053A	COL12A1_uc003pht.2_Missense_Mutation_p.P1889A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3053	Nonhelical region (NC1).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCGTTGTATGGGATGCTGGCA	0.532													C	75797317	G	C	75797317	3	2	174	1	0	0	0	0	1	0	0	0	3669	1232	43	5	42	5	COL12A1	6	75797317	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	3118585	75797317	95317750	78	95172											
DDO	8528	broad.mit.edu	37	chr6	110734556	110734556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtatctggagtaaacTtgtctgaaatgatggtaacg	13	4	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:110734556T>G	uc003puc.2	-	2	198	c.194A>C	c.(193-195)AAG>ACG	p.K65T	C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.K65T	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	37	FAD (By similarity).				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		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)		TGGAGTAAACTTGTCTGAAAT	0.517													G	110734556	T	G	110734556	3	3	174	1	0	0	0	0	1	0	0	0	4334	1609	56	5	931	5	DDO	6	110734556	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	34937239	110734556	60380511	79	95173											
DCBLD1	285761	broad.mit.edu	37	chr6	117853437	117853437	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcagacctctttattgtgCaaagctgccatccatgcagg	8	11	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:117853437C>G	uc003pxs.2	+	6	725	c.600C>G	c.(598-600)TGC>TGG	p.C200W	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.C200W	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	200	LCCL.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CTTTATTGTGCAAAGCTGCCA	0.388													G	117853437	C	G	117853437	3	3	174	1	0	0	0	0	1	0	0	0	4280	718	25	5	622	5	DCBLD1	6	117853437	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	7118881	117853437	53261630	80	95174											
AKAP7	9465	broad.mit.edu	37	chr6	131520709	131520709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaccgtggctccgtaAgaatgtgagtgcatgttctt	10	8	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:131520709A>C	uc003qck.2	+	6	731	c.698A>C	c.(697-699)AAG>ACG	p.K233T	AKAP7_uc011ebz.1_Missense_Mutation_p.K211T|AKAP7_uc003qcl.1_Missense_Mutation_p.K114T	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGGCTCCGTAAGAATGTGAGT	0.453											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	131520709	A	C	131520709	3	2	174	1	0	0	0	0	1	0	0	0	456	72	3	5	650	5	AKAP7	6	131520709	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	13667272	131520709	39594358	81	95175											
EYA4	2070	broad.mit.edu	37	chr6	133783490	133783490	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggccctatccacacattcTttctacaccagcagctcaaa	4	15	3	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:133783490T>G	uc003qec.3	+	8	913	c.455T>G	c.(454-456)CTT>CGT	p.L152R	EYA4_uc011ecq.1_Missense_Mutation_p.L98R|EYA4_uc011ecr.1_Missense_Mutation_p.L98R|EYA4_uc003qed.3_Missense_Mutation_p.L152R|EYA4_uc003qee.3_Missense_Mutation_p.L129R|EYA4_uc011ecs.1_Missense_Mutation_p.L152R|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	152			L -> R (in a colorectal cancer sample; somatic mutation).		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	p.L152R(1)		large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACACATTCTTTCTACACCA	0.448													G	133783490	T	G	133783490	3	3	174	1	0	0	0	0	1	0	0	0	5331	1609	56	5	481	5	EYA4	6	133783490	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	2262781	133783490	37331577	82	95176											
BCLAF1	9774	broad.mit.edu	37	chr6	136599308	136599308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcaagatgaactctgActaggtggtgtagcaatagg	13	6	2	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:136599308A>C	uc003qgx.1	-	4	964	c.711T>G	c.(709-711)AGT>AGG	p.S237R	BCLAF1_uc003qgw.1_Missense_Mutation_p.S237R|BCLAF1_uc003qgy.1_Missense_Mutation_p.S235R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S235R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	237					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATGAACTCTGACTAGGTGGTG	0.448													C	136599308	A	C	136599308	3	2	174	1	0	0	0	0	1	0	0	0	1383	272	10	5	2091	5	BCLAF1	6	136599308	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	2815818	136599308	34515759	83	95177											
VIP	7432	broad.mit.edu	37	chr6	153076475	153076475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaactttctgccaaaaAgtaccttgagtctcttatgg	9	9	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr6:153076475A>G	uc003qpe.2	+	4	474	c.302A>G	c.(301-303)AAG>AGG	p.K101R	VIP_uc003qpf.2_Missense_Mutation_p.K101R|VIP_uc010kjd.2_Missense_Mutation_p.K101R	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	101					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TCTGCCAAAAAGTACCTTGAG	0.313													G	153076475	A	G	153076475	3	3	174	1	0	0	0	0	1	0	0	0	17164	72	3	3	312	3	VIP	6	153076475	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	16477167	153076475	18038592	84	95178											
SLC29A4	222962	broad.mit.edu	37	chr7	5338715	5338715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctacatgcgctttgatGtgccgcggccaagggtccag	15	12	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:5338715G>A	uc003sod.2	+	8	1140	c.979G>A	c.(979-981)GTG>ATG	p.V327M	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.V327M|SLC29A4_uc003soe.2_Missense_Mutation_p.V313M|SLC29A4_uc010ksw.2_RNA	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	327	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCGCTTTGATGTGCCGCGGCC	0.716													A	5338715	G	A	5338715	3	1	174	1	0	0	0	0	1	0	0	0	14537	1377	48	4	1005	4	SLC29A4	7	5338715	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08		5338715	153799948	85	95179											
THSD7A	221981	broad.mit.edu	37	chr7	11485942	11485942	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttacatttttccttctttTtactttttcctgtggaagag	5	7	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:11485942T>A	uc003ssf.3	-	13	3062	c.2810A>T	c.(2809-2811)AAA>ATA	p.K937I		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	937	TSP type-1 9.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCCTTCTTTTTACTTTTTCC	0.343										HNSCC(18;0.044)			A	11485942	T	A	11485942	3	1	174	1	0	0	0	0	1	0	0	0	15876	1841	64	5	2223	5	THSD7A	7	11485942	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	6147227	11485942	147652721	86	95180											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31132307	31132307	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatccttgtgcagaaacTtcagtctccagacatgggag	10	11	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:31132307T>G	uc003tca.1	+	13	1227	c.1004T>G	c.(1003-1005)CTT>CGT	p.L335R	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.L314R|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.L335R|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.L335R|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.L335R|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.L37R	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	335	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						GTGCAGAAACTTCAGTCTCCA	0.453													G	31132307	T	G	31132307	3	3	174	1	0	0	0	0	1	0	0	0	303	1609	56	5	1050	5	ADCYAP1R1	7	31132307	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	19646365	31132307	128006356	87	95181											
PCLO	27445	broad.mit.edu	37	chr7	82582652	82582652	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatttaaggtcatacttgaAgttaaagataggcctgttgg	10	4	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:82582652A>C	uc003uhx.2	-	5	7906	c.7617T>G	c.(7615-7617)ACT>ACG	p.T2539T	PCLO_uc003uhv.2_Silent_p.T2539T|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2470					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCATACTTGAAGTTAAAGATA	0.433													C	82582652	A	C	82582652	2	2	174	1	0	0	0	0	0	0	0	1	11583	59	3	5		5	PCLO	7	82582652	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	51450345	82582652	76556011	88	95182											
KIAA1324L	222223	broad.mit.edu	37	chr7	86522399	86522399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcaccatttaggttcattCcacacatacaaggtttcctt	5	11	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:86522399C>T	uc011kha.1	-	20	2888	c.2703G>A	c.(2701-2703)TGG>TGA	p.W901*	KIAA1324L_uc003uif.1_Nonsense_Mutation_p.W661*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.W787*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.W734*	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	901	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					TAGGTTCATTCCACACATACA	0.378													T	86522399	C	T	86522399	4	4	174	1	0	0	0	0	0	1	0	0	8224	856	30	4	398	4	KIAA1324L	7	86522399	Nonsense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	3939747	86522399	72616264	89	95183											
GRM8	2918	broad.mit.edu	37	chr7	126173313	126173313	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaccagacaaacactccaAggagctggacggagatgagg	12	10	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:126173313A>T	uc003vlr.2	-	8	2434	c.2123T>A	c.(2122-2124)CTT>CAT	p.L708H	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L708H|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	708	Helical; Name=4; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAACACTCCAAGGAGCTGGAC	0.522										HNSCC(24;0.065)			T	126173313	A	T	126173313	3	4	174	1	0	0	0	0	1	0	0	0	6803	72	3	5	665	5	GRM8	7	126173313	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	39650914	126173313	32965350	90	95184											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825791	146825791	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctcaaagataaccTttggaggcatccctttctct	5	11	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:146825791T>G	uc003weu.1	+	7	1462	c.946T>G	c.(946-948)TTT>GTT	p.F316V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	316	Laminin G-like 1.|Extracellular (Potential).				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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			AAAGATAACCTTTGGAGGCAT	0.383										HNSCC(39;0.1)			G	146825791	T	G	146825791	3	3	174	1	0	0	0	0	1	0	0	0	3647	1609	56	5	972	5	CNTNAP2	7	146825791	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	20652478	146825791	12312872	91	95185											
GIMAP1	170575	broad.mit.edu	37	chr7	150417426	150417426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgctctcggcccccggaCcccacgcgctgctcctggtg	11	20	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:150417426C>A	uc003whq.2	+	3	421	c.334C>A	c.(334-336)CCC>ACC	p.P112T	GIMAP1_uc003whp.2_Missense_Mutation_p.P120T	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	112	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCCCCGGACCCCACGCGCT	0.627													A	150417426	C	A	150417426	3	1	174	1	0	0	0	0	1	0	0	0	6379	507	18	5	340	5	GIMAP1	7	150417426	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	3591635	150417426	8721237	92	95186											
NOS3	4846	broad.mit.edu	37	chr7	150707215	150707215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccccaggtggccctccccCcggctgggtgcgggaccccc	13	20	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr7:150707215C>T	uc003wif.2	+	21	2821	c.2525C>T	c.(2524-2526)CCC>CTC	p.P842L	NOS3_uc011kuy.1_Missense_Mutation_p.P636L	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	842	FAD-binding FR-type.				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			central_nervous_system(5)|large_intestine(2)|skin(1)	8	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)	GGCCCTCCCCCCGGCTGGGTG	0.657													T	150707215	C	T	150707215	3	4	174	1	0	0	0	0	1	0	0	0	10544	623	22	4	2885	4	NOS3	7	150707215	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	289789	150707215	8431448	93	95187											
CLVS1	157807	broad.mit.edu	37	chr8	62212731	62212731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacttcaaggcagatgaTcccggcattaagagggctct	10	9	2	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr8:62212731T>C	uc003xuh.2	+	2	669	c.345T>C	c.(343-345)GAT>GAC	p.D115D	CLVS1_uc003xug.2_Silent_p.D115D|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.D115D	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	115					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						AGGCAGATGATCCCGGCATTA	0.512													C	62212731	T	C	62212731	2	2	174	1	0	0	0	0	0	0	0	1	3571	1432	50	3		3	CLVS1	8	62212731	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08		62212731	84151291	94	95188											
PRDM14	63978	broad.mit.edu	37	chr8	70981820	70981820	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcttgctgtaccagggCagatcgtagagaggctccct	14	11	0	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr8:70981820C>A	uc003xym.2	-	2	478	c.276G>T	c.(274-276)CTG>CTT	p.L92L		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGTACCAGGGCAGATCGTAGA	0.677													A	70981820	C	A	70981820	2	1	174	1	0	0	0	0	0	0	0	1	12455	697	25	5		5	PRDM14	8	70981820	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	8769089	70981820	75382202	95	95189											
PGCP	10404	broad.mit.edu	37	chr8	97797431	97797431	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagatgggctggagaaAgttcacctggagccagtgag	15	8	1	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr8:97797431A>G	uc003yhw.2	+	2	472	c.306A>G	c.(304-306)AAA>AAG	p.K102K	PGCP_uc010mbe.2_Silent_p.K102K	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	102					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					GGCTGGAGAAAGTTCACCTGG	0.488													G	97797431	A	G	97797431	2	3	174	1	0	0	0	0	0	0	0	1	11786	69	3	3		3	PGCP	8	97797431	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	26815611	97797431	48566591	96	95190											
VPS13B	157680	broad.mit.edu	37	chr8	100861067	100861067	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatcagtgtggcacagtcTtcatcactgtggccccagaa	9	12	4	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr8:100861067T>G	uc003yiv.2	+	55	10192	c.10081T>G	c.(10081-10083)TTC>GTC	p.F3361V	VPS13B_uc003yiw.2_Missense_Mutation_p.F3336V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3361					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGCACAGTCTTCATCACTGT	0.393													G	100861067	T	G	100861067	3	3	174	1	0	0	0	0	1	0	0	0	17187	1609	56	5	10489	5	VPS13B	8	100861067	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	3063636	100861067	45502955	97	95191											
DNAI1	27019	broad.mit.edu	37	chr9	34506802	34506802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccatttacaacctcaAgaagccccactcccagccct	6	18	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr9:34506802A>C	uc003zum.2	+	13	1434	c.1241A>C	c.(1240-1242)AAG>ACG	p.K414T		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	414	WD 1.				cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TACAACCTCAAGAAGCCCCAC	0.607									Kartagener_syndrome				C	34506802	A	C	34506802	3	2	174	1	0	0	0	0	1	0	0	0	4609	72	3	5	1291	5	DNAI1	9	34506802	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08		34506802	106706629	98	95192											
IL11RA	3590	broad.mit.edu	37	chr9	34660279	34660279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccttcctttagggaccataCcaaaggagataccagcatgg	10	11	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr9:34660279C>G	uc003zvi.2	+	10	2317	c.961C>G	c.(961-963)CCA>GCA	p.P321A	IL11RA_uc011loq.1_Missense_Mutation_p.P321A|IL11RA_uc003zvj.2_Missense_Mutation_p.P321A|IL11RA_uc003zvk.2_Missense_Mutation_p.P321A|IL11RA_uc010mke.2_Missense_Mutation_p.P203A|IL11RA_uc003zvl.2_RNA	NM_004512	NP_004503	Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha isoform 1	321	Extracellular (Potential).					integral to plasma membrane	cytokine receptor activity			skin(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGGGACCATACCAAAGGAGAT	0.602													G	34660279	C	G	34660279	3	3	174	1	0	0	0	0	1	0	0	0	7623	507	18	5	995	5	IL11RA	9	34660279	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	153477	34660279	106553152	99	95193											
NIPSNAP3A	25934	broad.mit.edu	37	chr9	107513407	107513407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatactggagtgtagaattTggaggcagaatgaatacagt	14	3	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr9:107513407T>C	uc004bch.1	+	2	336	c.231T>C	c.(229-231)TTT>TTC	p.F77F	NIPSNAP3A_uc011lvt.1_Silent_p.F77F|NIPSNAP3A_uc011lvu.1_Silent_p.F77F	NM_015469	NP_056284	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A	77						cytosol					0						GTGTAGAATTTGGAGGCAGAA	0.358													C	107513407	T	C	107513407	2	2	174	1	0	0	0	0	0	0	0	1	10430	1809	63	3		3	NIPSNAP3A	9	107513407	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	72853128	107513407	33700024	100	95194											
PAPPA	5069	broad.mit.edu	37	chr9	119106909	119106909	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctccagcagcgaccgctaCcacggtgcccagtgtactgt	11	15	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr9:119106909C>A	uc004bjn.2	+	14	4080	c.3699C>A	c.(3697-3699)TAC>TAA	p.Y1233*	PAPPA_uc011lxq.1_Nonsense_Mutation_p.Y608*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1233	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GCGACCGCTACCACGGTGCCC	0.577													A	119106909	C	A	119106909	4	1	174	1	0	0	0	0	0	1	0	0	11432	518	18	5	3753	5	PAPPA	9	119106909	Nonsense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	11593502	119106909	22106522	101	95195											
PHF19	26147	broad.mit.edu	37	chr9	123620323	123620323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccccacaggccaaccGcccagctgcaccaaagtagt	7	18	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr9:123620323G>A	uc004bks.1	-	15	1895	c.1642C>T	c.(1642-1644)CGG>TGG	p.R548W	PHF19_uc011lyf.1_Missense_Mutation_p.R339W|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						CAGGCCAACCGCCCAGCTGCA	0.557													A	123620323	G	A	123620323	3	1	174	1	0	0	0	0	1	0	0	0	11829	1086	38	1	104	1	PHF19	9	123620323	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	4513414	123620323	17593108	102	95196											
NACC2	138151	broad.mit.edu	37	chr9	138903451	138903451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccccgccctgctcaaAgggctgtggggggctctggc	16	16	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr9:138903451A>G	uc004cgw.2	-	6	1831	c.1675T>C	c.(1675-1677)TTT>CTT	p.F559L	NACC2_uc010nbh.2_Missense_Mutation_p.F198L|uc004cgv.3_5'Flank	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	BTB (POZ) domain containing 14A	559					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body					0						cccTGCTCAAAGGGCTGTGGG	0.542													G	138903451	A	G	138903451	3	3	174	1	0	0	0	0	1	0	0	0	10136	72	3	3	92	3	NACC2	9	138903451	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	15283128	138903451	2309980	103	95197											
SFMBT2	57713	broad.mit.edu	37	chr10	7214510	7214510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctccgtttcttctgcaCgaaaatggatttccgtcgct	8	12	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:7214510C>T	uc009xio.1	-	18	2189	c.2098G>A	c.(2098-2100)GTG>ATG	p.V700M	SFMBT2_uc001ijn.1_Missense_Mutation_p.V700M|SFMBT2_uc010qay.1_Missense_Mutation_p.V535M	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	700					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TTCTTCTGCACGAAAATGGAT	0.607													T	7214510	C	T	7214510	3	4	174	1	0	0	0	0	1	0	0	0	14158	536	19	1	602	1	SFMBT2	10	7214510	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08		7214510	128320237	104	95198											
ITIH2	3698	broad.mit.edu	37	chr10	7773950	7773950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatagagagcgttatcacGgcgacttcggtacttccact	9	11	1	1	rs150260189		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:7773950G>A	uc001ijs.2	+	13	1800	c.1638G>A	c.(1636-1638)ACG>ACA	p.T546T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GCGTTATCACGGCGACTTCGG	0.438													A	7773950	G	A	7773950	2	1	174	1	0	0	0	0	0	0	0	1	7904	1103	39	1		1	ITIH2	10	7773950	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	559440	7773950	127760797	105	95199											
CCDC3	83643	broad.mit.edu	37	chr10	13040500	13040500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggcaagaggttataAttttcatccatcctaatgga	9	8	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:13040500A>C	uc001ilq.1	-	2	521	c.387T>G	c.(385-387)AAT>AAG	p.N129K	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	129						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AGAGGTTATAATTTTCATCCA	0.448													C	13040500	A	C	13040500	3	2	174	1	0	0	0	0	1	0	0	0	2804	98	4	5	433	5	CCDC3	10	13040500	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	5266550	13040500	122494247	106	95200											
MPP7	143098	broad.mit.edu	37	chr10	28348658	28348658	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcactctcctggcttcttcTtgctctggtggtatctatga	8	11	6	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:28348658T>A	uc001iua.1	-	16	1623	c.1219A>T	c.(1219-1221)AGA>TGA	p.R407*	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Nonsense_Mutation_p.R407*|MPP7_uc009xla.2_Nonsense_Mutation_p.R407*|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	407	Guanylate kinase-like.				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			ovary(1)	1						TGGCTTCTTCTTGCTCTGGTG	0.338													A	28348658	T	A	28348658	4	1	174	1	0	0	0	0	0	1	0	0	9739	1617	56	5	527	5	MPP7	10	28348658	Nonsense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	15308158	28348658	107186089	107	95201											
ZWINT	11130	broad.mit.edu	37	chr10	58118340	58118340	+	Frame_Shift_Del	DEL	T	T	-													gaaggacacaccagggtctcTccccatggtgtctcctgtac					rs146929955	byFrequency	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:58118339_58118339CT>C	uc001jjx.1	-	6	807	c.770_770AG>G	c.(769-771)agafs	p.R257fs	ZWINT_uc001jjy.1_Frame_Shift_Del_p.R210fs|ZWINT_uc001jka.1_Frame_Shift_Del_p.R257fs|ZWINT_uc009xoy.1_Non-coding_Transcript	NM_007057	NP_127490	O95229	ZWINT_HUMAN	Homo sapiens ZW10 interactor (ZWINT), transcript variant 1, mRNA.	257					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	p.G256W(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						ACCAGGGTCTCTCCCCATGGT	0.562													-	58118340	T	-	58118340	7	5	174	1	0	1	0	1	0	0	0	0	18246	1559	54	0	72	0	ZWINT	10	58118340	Frame_Shift_Del	DEL	T	TCGA-CG-4444-01A-01D-1158-08	29769682	58118340	77416407	108	95202											
PLA2G12B	84647	broad.mit.edu	37	chr10	74714363	74714363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgaataggactcctcCgtgtcagggctcgtgtcgct	12	12	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:74714363C>T	uc001jtf.1	-	1	148	c.81G>A	c.(79-81)ACG>ACA	p.T27T	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Silent_p.T27T	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	27					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)					AGGACTCCTCCGTGTCAGGGC	0.577													T	74714363	C	T	74714363	2	4	174	1	0	0	0	0	0	0	0	1	11991	639	23	1		1	PLA2G12B	10	74714363	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	16596023	74714363	60820384	109	95203											
LIPF	8513	broad.mit.edu	37	chr10	90427343	90427343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcagatgattacttaTtggggatacccaaatgaaga	10	6	1	5			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:90427343T>C	uc001kfg.1	+	3	289	c.123T>C	c.(121-123)TAT>TAC	p.Y41Y	LIPF_uc009xtk.2_Silent_p.Y41Y|LIPF_uc001kfh.1_Silent_p.Y51Y|LIPF_uc010qmt.1_Silent_p.Y51Y|LIPF_uc010qmu.1_Silent_p.Y41Y	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	41					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TGATTACTTATTGGGGATACC	0.284													C	90427343	T	C	90427343	2	2	174	1	0	0	0	0	0	0	0	1	8822	1500	52	3		3	LIPF	10	90427343	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	15712980	90427343	45107404	110	95204											
XPNPEP1	7511	broad.mit.edu	37	chr10	111667564	111667565	+	Missense_Mutation	DNP	AT	AT	CA													ctgaagtcacctttggaggcAttctgccgtctgcaacaaca							TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr10:111667564_111667565AT>CA	uc001kyp.1	-	3	141_142	c.1_2AT>TG	c.(1-3)ATG>TGG	p.M1W	XPNPEP1_uc009xxt.1_Missense_Mutation_p.M44W|XPNPEP1_uc001kyq.1_Translation_Start_Site|XPNPEP1_uc010qrb.1_Missense_Mutation_p.M44W	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	1					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTTGGAGGCATTCTGCCGTCT	0.53													CA	111667565	AT	CA	111667564	3	2	174	1	0	0	0	0	1	0	0	0	17439	217	8	5	1945	5	XPNPEP1	10	111667564	Missense_Mutation	DNP	AT	TCGA-CG-4444-01A-01D-1158-08	21240221	111667564	23867183	111	95205											
NLRP10	338322	broad.mit.edu	37	chr11	7982304	7982304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgatgagaagggagcaCgtggggagtgtatgtctcct	18	5	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:7982304C>T	uc001mfv.1	-	2	872	c.855G>A	c.(853-855)ACG>ACA	p.T285T		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	285	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGGGAGCACGTGGGGAGTG	0.532													T	7982304	C	T	7982304	2	4	174	1	0	0	0	0	0	0	0	1	10472	523	19	1		1	NLRP10	11	7982304	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08		7982304	127024212	112	95206											
SCUBE2	57758	broad.mit.edu	37	chr11	9087507	9087507	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggtgttgctctctgtcacctCcaggacagtgtcctctcgct	10	14	3	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:9087507C>G	uc001mhh.1	-	7	861	c.781G>C	c.(781-783)GAG>CAG	p.E261Q	SCUBE2_uc001mhi.1_Missense_Mutation_p.E261Q|SCUBE2_uc001mhj.1_Missense_Mutation_p.E261Q	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	261						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCTGTCACCTCCAGGACAGTG	0.517													G	9087507	C	G	9087507	3	3	174	1	0	0	0	0	1	0	0	0	13945	864	30	5	2373	5	SCUBE2	11	9087507	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	1105203	9087507	125919009	113	95207											
RPS13	6207	broad.mit.edu	37	chr11	17099222	17099222	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggcaacgaaaggagagcgaGagtggaaacgccgcaggaag	17	7	0	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:17099222G>C	uc001mmp.2	-	1	1	c.-31_splice	c.e1-1			NM_001017	NP_001008	P62277	RS13_HUMAN	ribosomal protein S13						endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0						AGGAGAGCGAGAGTGGAAACG	0.662													C	17099222	G	C	17099222	5	2	174	1	0	0	0	0	0	0	1	0	13623	957	33	5		5	RPS13	11	17099222	Splice_Site	SNP	G	TCGA-CG-4444-01A-01D-1158-08	8011715	17099222	117907294	114	95208											
AGBL2	79841	broad.mit.edu	37	chr11	47712259	47712259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagagtggcttcatccctaCagtataaagactcttgggtt	9	9	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:47712259C>G	uc001ngg.2	-	9	1100	c.1000G>C	c.(1000-1002)GTA>CTA	p.V334L	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.V296L|AGBL2_uc001ngh.1_Missense_Mutation_p.V278L	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	334					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TTCATCCCTACAGTATAAAGA	0.423													G	47712259	C	G	47712259	3	3	174	1	0	0	0	0	1	0	0	0	376	478	17	5	1748	5	AGBL2	11	47712259	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	30613037	47712259	87294257	115	95209											
OR4C16	219428	broad.mit.edu	37	chr11	55340006	55340006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcactacatgaccatcataAgccagtgggtctgtggtgtt	11	9	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:55340006A>C	uc010rih.1	+	1	403	c.403A>C	c.(403-405)AGC>CGC	p.S135R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GACCATCATAAGCCAGTGGGT	0.507													C	55340006	A	C	55340006	3	2	174	1	0	0	0	0	1	0	0	0	11049	72	3	5	405	5	OR4C16	11	55340006	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	7627747	55340006	79666510	116	95210											
OR8H3	390152	broad.mit.edu	37	chr11	55890015	55890015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccgcctggacctccagcTtcacactcccatgtattttt	5	15	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:55890015T>C	uc001nii.1	+	1	167	c.167T>C	c.(166-168)CTT>CCT	p.L56P		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					GACCTCCAGCTTCACACTCCC	0.438													C	55890015	T	C	55890015	3	2	174	1	0	0	0	0	1	0	0	0	11239	1609	56	3	169	3	OR8H3	11	55890015	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	550009	55890015	79116501	117	95211											
OR5T1	390155	broad.mit.edu	37	chr11	56043389	56043389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctacagttgtcactccaaAaatgttggtcaatttcctgg	7	9	3	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:56043389A>G	uc001nio.1	+	1	275	c.275A>G	c.(274-276)AAA>AGA	p.K92R		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					GTCACTCCAAAAATGTTGGTC	0.373													G	56043389	A	G	56043389	3	3	174	1	0	0	0	0	1	0	0	0	11181	14	1	3	277	3	OR5T1	11	56043389	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	153374	56043389	78963127	118	95212											
OR5T1	390155	broad.mit.edu	37	chr11	56043951	56043951	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccaagttccagctacacTtcggacaatgacatgatagt	8	10	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:56043951T>G	uc001nio.1	+	1	837	c.837T>G	c.(835-837)ACT>ACG	p.T279T		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					CCAGCTACACTTCGGACAATG	0.413													G	56043951	T	G	56043951	2	3	174	1	0	0	0	0	0	0	0	1	11181	1596	56	5		5	OR5T1	11	56043951	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	562	56043951	78962565	119	95213											
ATG16L2	89849	broad.mit.edu	37	chr11	72533143	72533143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaggcgcgggcgcagcaGgcccagcaggtggaggagtg	21	10	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:72533143G>A	uc001otd.2	+	5	487	c.447G>A	c.(445-447)CAG>CAA	p.Q149Q	ATG16L2_uc010rrf.1_Intron|ATG16L2_uc001ote.2_Silent_p.Q43Q|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_5'Flank|ATG16L2_uc001otg.2_5'Flank|ATG16L2_uc009ytk.2_5'Flank	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	149	Potential.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGGCGCAGCAGGCCCAGCAGG	0.746													A	72533143	G	A	72533143	2	1	174	1	0	0	0	0	0	0	0	1	1092	991	35	4		4	ATG16L2	11	72533143	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	16489192	72533143	62473373	120	95214											
FAM168A	23201	broad.mit.edu	37	chr11	73120596	73120596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgttggtcctcggggcGgcaacaggtgctgggtagat	16	10	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:73120596G>A	uc001otz.1	-	7	837	c.558C>T	c.(556-558)GCC>GCT	p.A186A	FAM168A_uc001oty.1_Silent_p.A177A|FAM168A_uc009ytp.1_Intron	NM_015159	NP_055974	Q92567	F168A_HUMAN	hypothetical protein LOC23201	186											0						TCCTCGGGGCGGCAACAGGTG	0.582													A	73120596	G	A	73120596	2	1	174	1	0	0	0	0	0	0	0	1	5485	1103	39	1		1	FAM168A	11	73120596	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	587453	73120596	61885920	121	95215											
ODZ4	26011	broad.mit.edu	37	chr11	78412964	78412964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaggaaaggcttgttcTtccggataaaccgaattcgg	12	7	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:78412964T>G	uc001ozl.3	-	28	5157	c.4694A>C	c.(4693-4695)AAG>ACG	p.K1565T	ODZ4_uc009yvb.1_Missense_Mutation_p.K149T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1565	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AGGCTTGTTCTTCCGGATAAA	0.498													G	78412964	T	G	78412964	3	3	174	1	0	0	0	0	1	0	0	0	10837	1609	56	5	3643	5	ODZ4	11	78412964	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	5292368	78412964	56593552	122	95216											
FAT3	120114	broad.mit.edu	37	chr11	92533457	92533457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagacagctctgatttTgaccggttggaatatagcat	11	7	1	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:92533457T>C	uc001pdj.3	+	9	7295	c.7278T>C	c.(7276-7278)TTT>TTC	p.F2426F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2426	Cadherin 22.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTCTGATTTTGACCGGTTGG	0.453										TCGA Ovarian(4;0.039)			C	92533457	T	C	92533457	2	2	174	1	0	0	0	0	0	0	0	1	5691	1809	63	3		3	FAT3	11	92533457	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	14120493	92533457	42473059	123	95217											
FAT3	120114	broad.mit.edu	37	chr11	92533693	92533693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcacatacgtagctgaggTgagagagaacgtggctgcag	15	7	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr11:92533693T>G	uc001pdj.3	+	9	7531	c.7514T>G	c.(7513-7515)GTG>GGG	p.V2505G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2505	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTAGCTGAGGTGAGAGAGAAC	0.493										TCGA Ovarian(4;0.039)			G	92533693	T	G	92533693	3	3	174	1	0	0	0	0	1	0	0	0	5691	1696	59	5	7548	5	FAT3	11	92533693	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	236	92533693	42472823	124	95218											
LRTM2	654429	broad.mit.edu	37	chr12	1943438	1943438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctgcatgtagggggaCgcttggaccagcttgcctgc	13	12	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:1943438C>T	uc001qjt.2	+	5	1470	c.664C>T	c.(664-666)CGC>TGC	p.R222C	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.R222C|LRTM2_uc010sdx.1_Missense_Mutation_p.R222C|LRTM2_uc001qjv.2_Translation_Start_Site	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	222	LRRCT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGTAGGGGGACGCTTGGACCA	0.592													T	1943438	C	T	1943438	3	4	174	1	0	0	0	0	1	0	0	0	9045	536	19	1	674	1	LRTM2	12	1943438	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08		1943438	131908457	125	95219											
PARP11	57097	broad.mit.edu	37	chr12	3938171	3938171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgatatcttcactgctaActgaacactgactgttggta	7	9	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:3938171A>G	uc001qmk.1	-	2	207	c.152T>C	c.(151-153)GTT>GCT	p.V51A	PARP11_uc001qml.2_Missense_Mutation_p.V58A|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Intron|PARP11_uc001qmn.2_Intron	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	51	WWE.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCACTGCTAACTGAACACTG	0.403													G	3938171	A	G	3938171	3	3	174	1	0	0	0	0	1	0	0	0	11456	43	2	3	867	3	PARP11	12	3938171	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	1994733	3938171	129913724	126	95220											
CLSTN3	9746	broad.mit.edu	37	chr12	7301586	7301586	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcttcagcgaagagtcCtgcgtctccatccctgaagt	11	12	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:7301586C>A	uc001qsr.2	+	13	2144	c.1866C>A	c.(1864-1866)TCC>TCA	p.S622S	CLSTN3_uc001qss.2_Silent_p.S634S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	622	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GCGAAGAGTCCTGCGTCTCCA	0.587													A	7301586	C	A	7301586	2	1	174	1	0	0	0	0	0	0	0	1	3563	668	24	5		5	CLSTN3	12	7301586	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	3363415	7301586	126550309	127	95221											
NECAP1	25977	broad.mit.edu	37	chr12	8242551	8242551	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcctctgactggaaattaGaccagcctgattggactggt	13	9	1	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:8242551G>A	uc001qtx.2	+	2	193	c.115G>A	c.(115-117)GAC>AAC	p.D39N	NECAP1_uc001qty.2_5'UTR	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	39					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		CTGGAAATTAGACCAGCCTGA	0.463													A	8242551	G	A	8242551	3	1	174	1	0	0	0	0	1	0	0	0	10307	942	33	4	121	4	NECAP1	12	8242551	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	940965	8242551	125609344	128	95222											
A2ML1	144568	broad.mit.edu	37	chr12	8975277	8975277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccttctaggaatgttGgccctatcaccagccattgc	8	14	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:8975277G>A	uc001quz.3	+	1	128	c.30G>A	c.(28-30)TTG>TTA	p.L10L		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	Error:Variant_position_missing_in_B3KVV6_after_alignment						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TAGGAATGTTGGCCCTATCAC	0.478													A	8975277	G	A	8975277	2	1	174	1	0	0	0	0	0	0	0	1	5	1339	47	4		4	A2ML1	12	8975277	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	732726	8975277	124876618	129	95223											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435597	18435597	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaaagaagagaataaaagGagtggacatgtgaacattgt	12	4	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:18435597G>A	uc001rdt.2	+	2	698	c.582G>A	c.(580-582)AGG>AGA	p.R194R	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.R194R|PIK3C2G_uc010sic.1_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	194					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			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				AGAATAAAAGGAGTGGACATG	0.378													A	18435597	G	A	18435597	2	1	174	1	0	0	0	0	0	0	0	1	11911	1165	41	4		4	PIK3C2G	12	18435597	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	9460320	18435597	115416298	130	95224											
SLC38A4	55089	broad.mit.edu	37	chr12	47172533	47172533	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaacaggtagagggcaGggtatttggaatttcttgta	12	5	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:47172533G>T	uc001rpi.2	-	11	1143	c.744C>A	c.(742-744)CCC>CCA	p.P248P	SLC38A4_uc001rpj.2_Silent_p.P248P	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	248	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					GTAGAGGGCAGGGTATTTGGA	0.358													T	47172533	G	T	47172533	2	4	174	1	0	0	0	0	0	0	0	1	14606	987	35	5		5	SLC38A4	12	47172533	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	28736936	47172533	86679362	131	95225											
OR10AD1	121275	broad.mit.edu	37	chr12	48596871	48596871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgaagcagacatccaggaGagacagatggccgaggaaga	15	7	0	5			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:48596871G>A	uc001rrl.1	-	1	205	c.205C>T	c.(205-207)CTC>TTC	p.L69F		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACATCCAGGAGAGACAGATGG	0.522													A	48596871	G	A	48596871	3	1	174	1	0	0	0	0	1	0	0	0	10896	942	33	4	752	4	OR10AD1	12	48596871	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	1424338	48596871	85255024	132	95226											
FAM19A2	338811	broad.mit.edu	37	chr12	62147441	62147441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcccagaggaacagctccAtcctttccgatccggaagaa	8	13	0	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:62147441A>G	uc001sqw.2	-	4	1859	c.346T>C	c.(346-348)TGG>CGG	p.W116R	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.W116R|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	116						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GAACAGCTCCATCCTTTCCGA	0.428													G	62147441	A	G	62147441	3	3	174	1	0	0	0	0	1	0	0	0	5532	217	8	3	57	3	FAM19A2	12	62147441	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	13550570	62147441	71704454	133	95227											
TBC1D15	64786	broad.mit.edu	37	chr12	72233533	72233533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagacacgtgaggttctgcTacgtcattaccaggcacgcg	12	11	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:72233533T>C	uc001swu.2	+	1	47	c.38T>C	c.(37-39)CTA>CCA	p.L13P	TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_5'UTR|TBC1D15_uc001swv.2_Missense_Mutation_p.L13P|TBC1D15_uc001sww.2_5'UTR	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	Error:Variant_position_missing_in_Q8TC07_after_alignment							protein binding|Rab GTPase activator activity				0						GAGGTTCTGCTACGTCATTAC	0.587													C	72233533	T	C	72233533	3	2	174	1	0	0	0	0	1	0	0	0	15601	1522	53	3	40	3	TBC1D15	12	72233533	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	10086092	72233533	61618362	134	95228											
DDX54	79039	broad.mit.edu	37	chr12	113600965	113600965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcaaagtccttgggccGgtaggggatgtagaattcct	14	8	1	1	rs146871883	byFrequency	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr12:113600965G>A	uc001tup.2	-	16	2081	c.2053C>T	c.(2053-2055)CGG>TGG	p.R685W	DDX54_uc001tuq.3_Missense_Mutation_p.R685W	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	685					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			skin(2)|central_nervous_system(1)	3						TCCTTGGGCCGGTAGGGGATG	0.662													A	113600965	G	A	113600965	3	1	174	1	0	0	0	0	1	0	0	0	4372	1115	39	1	615	1	DDX54	12	113600965	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	41367432	113600965	20250930	135	95229											
FGF9	2254	broad.mit.edu	37	chr13	22275428	22275428	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgtggacactggaaggCgatactatgttgcattaaat	11	7	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr13:22275428C>T	uc001uog.2	+	3	1318	c.481C>T	c.(481-483)CGA>TGA	p.R161*		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	161					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CACTGGAAGGCGATACTATGT	0.423													T	22275428	C	T	22275428	4	4	174	1	0	0	0	0	0	1	0	0	5859	760	27	1	491	1	FGF9	13	22275428	Nonsense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08		22275428	92894450	136	95230											
FLT3	2322	broad.mit.edu	37	chr13	28608309	28608309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactcattatctgaggagcCggtcacctgtaccatctgta	9	11	4	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr13:28608309C>T	uc001urw.2	-	14	1829	c.1747G>A	c.(1747-1749)GGC>AGC	p.G583S	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.G583S	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	583	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.T582_G583ins14(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	TCTGAGGAGCCGGTCACCTGT	0.393			Mis|O		AML|ALL								T	28608309	C	T	28608309	3	4	174	1	0	0	0	0	1	0	0	0	5942	652	23	1	1278	1	FLT3	13	28608309	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	6332881	28608309	86561569	137	95231											
ENOX1	55068	broad.mit.edu	37	chr13	43896619	43896619	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccatgagctgctcacTttgagcattccggagctcct	10	13	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr13:43896619T>A	uc001uza.3	-	11	1462	c.1162A>T	c.(1162-1164)AGT>TGT	p.S388C	ENOX1_uc001uzb.3_Missense_Mutation_p.S388C|ENOX1_uc001uzc.3_Missense_Mutation_p.S388C|ENOX1_uc001uyz.3_Translation_Start_Site|ENOX1_uc010tfm.1_Missense_Mutation_p.S201C	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	388					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		AGCTGCTCACTTTGAGCATTC	0.468													A	43896619	T	A	43896619	3	1	174	1	0	0	0	0	1	0	0	0	5126	1609	56	5	797	5	ENOX1	13	43896619	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	15288310	43896619	71273259	138	95232											
SLITRK1	114798	broad.mit.edu	37	chr13	84454671	84454671	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggagctacccgtcgctatCgctgctgtgggtctgatttt	12	11	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr13:84454671C>A	uc001vlk.2	-	1	1858	c.972G>T	c.(970-972)GCG>GCT	p.A324A		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	324	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCGTCGCTATCGCTGCTGTGG	0.547													A	84454671	C	A	84454671	2	1	174	1	0	0	0	0	0	0	0	1	14742	871	31	5		5	SLITRK1	13	84454671	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	40558052	84454671	30715207	139	95233											
OR4Q3	441669	broad.mit.edu	37	chr14	20216435	20216435	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtgattacacctatgttGaaccccctcatctacacact	4	14	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:20216435G>T	uc010tkt.1	+	1	849	c.849G>T	c.(847-849)TTG>TTT	p.L283F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACCTATGTTGAACCCCCTCA	0.408													T	20216435	G	T	20216435	3	4	174	1	0	0	0	0	1	0	0	0	11081	1281	45	5	851	5	OR4Q3	14	20216435	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08		20216435	87133105	140	95234											
OR11H4	390442	broad.mit.edu	37	chr14	20711092	20711092	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtgatttatgtcttgAccttgctgggaaatggagcc	12	6	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:20711092A>C	uc010tld.1	+	1	142	c.142A>C	c.(142-144)ACC>CCC	p.T48P		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTATGTCTTGACCTTGCTGGG	0.443													C	20711092	A	C	20711092	3	2	174	1	0	0	0	0	1	0	0	0	10928	275	10	5	144	5	OR11H4	14	20711092	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	494657	20711092	86638448	141	95235											
MUDENG	55745	broad.mit.edu	37	chr14	57741028	57741028	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttatgtgcctgttcctgaAgatggtccctttcttaaagc	9	9	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:57741028A>G	uc001xcv.2	+	2	568	c.141A>G	c.(139-141)GAA>GAG	p.E47E	MUDENG_uc001xcu.3_Silent_p.E47E|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_5'UTR	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	47					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						CTGTTCCTGAAGATGGTCCCT	0.388													G	57741028	A	G	57741028	2	3	174	1	0	0	0	0	0	0	0	1	9983	69	3	3		3	MUDENG	14	57741028	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	37029936	57741028	49608512	142	95236											
MNAT1	4331	broad.mit.edu	37	chr14	61346450	61346450	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggtcaacatatttcactgGcacctattcacaagcttgaa	7	10	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:61346450G>C	uc001xfd.2	+	7	817	c.706G>C	c.(706-708)GCA>CCA	p.A236P	MNAT1_uc001xfe.2_Missense_Mutation_p.A194P	NM_002431	NP_002422	P51948	MAT1_HUMAN	menage a trois 1 (CAK assembly factor)	236					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|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	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			ovary(1)|lung(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		TATTTCACTGGCACCTATTCA	0.348								Direct_reversal_of_damage|NER					C	61346450	G	C	61346450	3	2	174	1	0	0	0	0	1	0	0	0	9674	1203	42	5	732	5	MNAT1	14	61346450	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	3605422	61346450	46003090	143	95237											
KCNH5	27133	broad.mit.edu	37	chr14	63174582	63174582	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatccaaacgaaggtcacTttttgtaattccactgtcac	5	11	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:63174582T>G	uc001xfx.2	-	11	2662	c.2611A>C	c.(2611-2613)AGT>CGT	p.S871R	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	871	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGAAGGTCACTTTTTGTAATT	0.507													G	63174582	T	G	63174582	3	3	174	1	0	0	0	0	1	0	0	0	8035	1609	56	5	359	5	KCNH5	14	63174582	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	1828132	63174582	44174958	144	95238											
PROX2	283571	broad.mit.edu	37	chr14	75321889	75321889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatgtcactgtccagtttCgaaataattttataaatggg	10	5	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:75321889C>T	uc001xqr.1	-	4	1725	c.1725G>A	c.(1723-1725)TCG>TCA	p.S575S	uc001xqp.1_5'Flank|PROX2_uc001xqq.1_Silent_p.S274S	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	575	Prospero-like.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGTCCAGTTTCGAAATAATTT	0.473													T	75321889	C	T	75321889	2	4	174	1	0	0	0	0	0	0	0	1	12561	871	31	1		1	PROX2	14	75321889	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	12147307	75321889	32027651	145	95239											
POMT2	29954	broad.mit.edu	37	chr14	77745169	77745169	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtaatggagtgtccagccGagcaggacctggccgcctcc	13	13	0	0	rs141193672	byFrequency	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:77745169G>A	uc001xti.2	-	19	2136	c.1935C>T	c.(1933-1935)CTC>CTT	p.L645L	POMT2_uc001xth.1_Silent_p.L343L	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	645	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GTGTCCAGCCGAGCAGGACCT	0.507													A	77745169	G	A	77745169	2	1	174	1	0	0	0	0	0	0	0	1	12246	1045	37	1		1	POMT2	14	77745169	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	2423280	77745169	29604371	146	95240											
SEL1L	6400	broad.mit.edu	37	chr14	81943368	81943368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggggtggagctggcCgtggccctggaggcctgggt	20	11	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr14:81943368C>T	uc010tvv.1	-	21	2450	c.2333G>A	c.(2332-2334)CGG>CAG	p.R778Q		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	778	Pro-rich.|Mediates retention to the endoplasmic reticulum.|Cytoplasmic (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGAGCTGGCCGTGGCCCTGG	0.582													T	81943368	C	T	81943368	3	4	174	1	0	0	0	0	1	0	0	0	14010	652	23	1	55	1	SEL1L	14	81943368	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	4198199	81943368	25406172	147	95241											
C15orf2	23742	broad.mit.edu	37	chr15	24921536	24921536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcgaaggggaggatgaCgagaaaaggaccccccttag	14	9	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:24921536C>T	uc001ywo.2	+	1	996	c.522C>T	c.(520-522)GAC>GAT	p.D174D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	174					cell differentiation|multicellular organismal development|spermatogenesis			p.D174D(1)		ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGGAGGATGACGAGAAAAGGA	0.622													T	24921536	C	T	24921536	2	4	174	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921536	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08		24921536	77609856	148	95242											
SEMA6D	80031	broad.mit.edu	37	chr15	48057176	48057176	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggcatggtacttaaAgttctggcaaagaccagtcc	11	9	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:48057176A>T	uc010bek.2	+	13	1710	c.1350A>T	c.(1348-1350)AAA>AAT	p.K450N	SEMA6D_uc001zvw.2_Missense_Mutation_p.K450N|SEMA6D_uc001zvx.1_Missense_Mutation_p.K450N|SEMA6D_uc001zvy.2_Missense_Mutation_p.K450N|SEMA6D_uc001zvz.2_Missense_Mutation_p.K450N|SEMA6D_uc001zwa.2_Missense_Mutation_p.K450N|SEMA6D_uc001zwb.2_Missense_Mutation_p.K450N|SEMA6D_uc001zwc.2_Missense_Mutation_p.K450N	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	450	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		TGGTACTTAAAGTTCTGGCAA	0.473													T	48057176	A	T	48057176	3	4	174	1	0	0	0	0	1	0	0	0	14042	69	3	5	1396	5	SEMA6D	15	48057176	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	23135640	48057176	54474216	149	95243											
TRPM7	54822	broad.mit.edu	37	chr15	50901825	50901825	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgataaaaggcataaaActttcgcgtaattggaagct	9	6	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:50901825A>C	uc001zyt.3	-	19	2797	c.2533T>G	c.(2533-2535)TTT>GTT	p.F845V	TRPM7_uc010bew.1_Missense_Mutation_p.F845V|TRPM7_uc001zyu.2_Missense_Mutation_p.F403V	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	845	Extracellular (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGGCATAAAACTTTCGCGTA	0.323													C	50901825	A	C	50901825	3	2	174	1	0	0	0	0	1	0	0	0	16588	43	2	5	3148	5	TRPM7	15	50901825	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	2844649	50901825	51629567	150	95244											
DMXL2	23312	broad.mit.edu	37	chr15	51750813	51750813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagccaaaacaatttcAttacaatttgcctataaagc	5	8	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:51750813A>G	uc002abf.2	-	35	8247	c.8022T>C	c.(8020-8022)AAT>AAC	p.N2674N	DMXL2_uc002abd.2_Silent_p.N766N|DMXL2_uc010ufy.1_Silent_p.N2675N|DMXL2_uc010bfa.2_Silent_p.N2038N	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2674						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AAACAATTTCATTACAATTTG	0.348													G	51750813	A	G	51750813	2	3	174	1	0	0	0	0	0	0	0	1	4595	214	8	3		3	DMXL2	15	51750813	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	848988	51750813	50780579	151	95245											
RORA	6095	broad.mit.edu	37	chr15	60795067	60795067	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaccacctctagagaacCtaagcagaggcagaaatggt	9	10	1	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:60795067C>T	uc002agv.2	-	9	1331	c.1175_splice	c.e9-1	p.G392_splice	uc002ags.1_Intron|RORA_uc002agt.3_Splice_Site_p.G304_splice|RORA_uc002agw.2_Splice_Site_p.G384_splice|RORA_uc002agx.2_Splice_Site_p.G359_splice	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b						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			large_intestine(1)|ovary(1)	2						TCTAGAGAACCTAAGCAGAGG	0.468													T	60795067	C	T	60795067	5	4	174	1	0	0	0	0	0	0	1	0	13528	695	24	4	512	4	RORA	15	60795067	Splice_Site	SNP	C	TCGA-CG-4444-01A-01D-1158-08	9044254	60795067	41736325	152	95246											
CILP	8483	broad.mit.edu	37	chr15	65489069	65489069	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgaagtaccacaaaacTtagttgatcaggggctgttg	13	6	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:65489069T>G	uc002aon.2	-	9	3736	c.3555A>C	c.(3553-3555)TAA>TAC	p.*1185Y		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	1185					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						ACCACAAAACTTAGTTGATCA	0.517													G	65489069	T	G	65489069	4	3	174	1	0	0	0	0	0	0	0	0	3429	1616	56	5	3	5	CILP	15	65489069	Nonstop_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	4694002	65489069	37042323	153	95247											
CILP	8483	broad.mit.edu	37	chr15	65494254	65494254	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacttcacagccccagcaTcactctgggccttgcaaaag	9	14	3	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:65494254T>G	uc002aon.2	-	8	1323	c.1142A>C	c.(1141-1143)GAT>GCT	p.D381A		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	381	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						AGCCCCAGCATCACTCTGGGC	0.577													G	65494254	T	G	65494254	3	3	174	1	0	0	0	0	1	0	0	0	3429	1435	50	5	2420	5	CILP	15	65494254	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	5185	65494254	37037138	154	95248											
CHRNA5	1138	broad.mit.edu	37	chr15	78882650	78882650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaagagatcataccatcatCttcaaaagtcatacctctaa	4	10	6	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:78882650C>T	uc002bdy.2	+	5	1079	c.917C>T	c.(916-918)TCT>TTT	p.S306F	CHRNA5_uc002bdz.2_Intron	NM_000745	NP_000736	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5	306					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ATACCATCATCTTCAAAAGTC	0.363													T	78882650	C	T	78882650	3	4	174	1	0	0	0	0	1	0	0	0	3386	913	32	4	935	4	CHRNA5	15	78882650	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	13388396	78882650	23648742	155	95249											
AGBL1	123624	broad.mit.edu	37	chr15	86790989	86790989	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacagccatgacacagccaAcgcctacgtgcagatccgac	9	16	0	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:86790989A>T	uc002blz.1	+	6	556	c.476A>T	c.(475-477)AAC>ATC	p.N159I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	159					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GACACAGCCAACGCCTACGTG	0.642													T	86790989	A	T	86790989	3	4	174	1	0	0	0	0	1	0	0	0	375	43	2	5	494	5	AGBL1	15	86790989	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	7908339	86790989	15740403	156	95250											
ISG20	3669	broad.mit.edu	37	chr15	89198676	89198676	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggacacagctcggtggaaGatgcgagggcaacgatggag	17	7	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:89198676G>C	uc002bmv.1	+	4	753	c.460G>C	c.(460-462)GAT>CAT	p.D154H	ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	154					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CTCGGTGGAAGATGCGAGGGC	0.597													C	89198676	G	C	89198676	3	2	174	1	0	0	0	0	1	0	0	0	7854	942	33	5	470	5	ISG20	15	89198676	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	2407687	89198676	13332716	157	95251											
SPATA8	145946	broad.mit.edu	37	chr15	97327407	97327407	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgcgacatttctcagaAgccatgacatgtccctgcgg	10	13	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr15:97327407A>G	uc002bue.2	+	2	324	c.114A>G	c.(112-114)GAA>GAG	p.E38E	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	38										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ATTTCTCAGAAGCCATGACAT	0.592													G	97327407	A	G	97327407	2	3	174	1	0	0	0	0	0	0	0	1	15014	69	3	3		3	SPATA8	15	97327407	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	8128731	97327407	5203985	158	95252											
WDR90	197335	broad.mit.edu	37	chr16	716300	716300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaccttccgtgtgctgAgtgaccaccagggcgcccca	12	15	0	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr16:716300A>G	uc002cii.1	+	37	4744	c.4690A>G	c.(4690-4692)AGT>GGT	p.S1564G	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.S179G|WDR90_uc010uul.1_Missense_Mutation_p.S163G|WDR90_uc002cio.1_Missense_Mutation_p.S163G|WDR90_uc010bqx.1_Missense_Mutation_p.S163G|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1564										ovary(1)	1		Hepatocellular(780;0.0218)				CCGTGTGCTGAGTGACCACCA	0.632													G	716300	A	G	716300	3	3	174	1	0	0	0	0	1	0	0	0	17334	304	11	3	4836	3	WDR90	16	716300	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08		716300	89638453	159	95253											
SRRM2	23524	broad.mit.edu	37	chr16	2814700	2814700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagttatccccagatgcaGtggaaaaggcagggatgtct	13	8	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr16:2814700G>A	uc002crk.2	+	11	4720	c.4171G>A	c.(4171-4173)GTG>ATG	p.V1391M	SRRM2_uc002crj.1_Missense_Mutation_p.V1295M|SRRM2_uc002crl.1_Missense_Mutation_p.V1391M|SRRM2_uc010bsu.1_Missense_Mutation_p.V1295M	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1391	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCCAGATGCAGTGGAAAAGGC	0.458													A	2814700	G	A	2814700	3	1	174	1	0	0	0	0	1	0	0	0	15168	1029	36	4	4209	4	SRRM2	16	2814700	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	2098400	2814700	87540053	160	95254											
MMP25	64386	broad.mit.edu	37	chr16	3100341	3100341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatggcctggggcatggAgtcaggcctcacatttcatg	13	11	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr16:3100341A>C	uc002cth.2	+	4	692	c.455A>C	c.(454-456)GAG>GCG	p.E152A	MMP25_uc002cti.1_Missense_Mutation_p.E88A	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	152					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						TGGGGCATGGAGTCAGGCCTC	0.637													C	3100341	A	C	3100341	3	2	174	1	0	0	0	0	1	0	0	0	9662	304	11	5	469	5	MMP25	16	3100341	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	285641	3100341	87254412	161	95255											
C16orf78	123970	broad.mit.edu	37	chr16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactgctgaagataggcGcatgtctgacctcacctgtg	12	10	2	4	rs144505396	byFrequency	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr16:49407930G>A	uc002efr.2	+	1	123	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	27										central_nervous_system(1)	1						GAAGATAGGCGCATGTCTGAC	0.488													A	49407930	G	A	49407930	3	1	174	1	0	0	0	0	1	0	0	0	1835	1087	38	1	82	1	C16orf78	16	49407930	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	46307589	49407930	40946823	162	95256											
WDR59	79726	broad.mit.edu	37	chr16	74943480	74943480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtaagccgtggtcacccGcgcaaacgtcggtaaggggg	15	13	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr16:74943480G>A	uc002fdh.1	-	16	1663	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	WDR59_uc002fdi.2_Missense_Mutation_p.R521W|WDR59_uc002fdg.1_Missense_Mutation_p.R113W	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	521										ovary(1)|breast(1)	2						GTGGTCACCCGCGCAAACGTC	0.552													A	74943480	G	A	74943480	3	1	174	1	0	0	0	0	1	0	0	0	17305	1086	38	1	1407	1	WDR59	16	74943480	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	25535550	74943480	15411273	163	95257											
KIAA0753	9851	broad.mit.edu	37	chr17	6483160	6483160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacagcacccagagcTtcatctaccagctcttctga	7	16	4	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:6483160T>G	uc002gde.3	-	19	3170	c.2811A>C	c.(2809-2811)GAA>GAC	p.E937D	KIAA0753_uc010vtd.1_Missense_Mutation_p.E393D|KIAA0753_uc010clo.2_Missense_Mutation_p.E638D|KIAA0753_uc010vte.1_Missense_Mutation_p.E638D	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	937						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CACCCAGAGCTTCATCTACCA	0.353													G	6483160	T	G	6483160	3	3	174	1	0	0	0	0	1	0	0	0	8191	1606	56	5	96	5	KIAA0753	17	6483160	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08		6483160	74712050	164	95258											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:7578395G>A	uc002gim.2	-	5	729	c.535C>T	c.(535-537)CAT>TAT	p.H179Y	TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(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.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578395	G	A	7578395	3	1	174	1	0	0	0	0	1	0	0	0	16378	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	1095235	7578395	73616815	165	95259											
MYH4	4622	broad.mit.edu	37	chr17	10367883	10367883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttcgtgttcacagtcTtccctgcaccagattctcca	6	16	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:10367883T>G	uc002gmn.2	-	7	665	c.554A>C	c.(553-555)AAG>ACG	p.K185T	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	185	Myosin head-like.|ATP (Potential).				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GTTCACAGTCTTCCCTGCACC	0.428													G	10367883	T	G	10367883	3	3	174	1	0	0	0	0	1	0	0	0	10037	1609	56	5	5401	5	MYH4	17	10367883	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	2789488	10367883	70827327	166	95260											
SSH2	85464	broad.mit.edu	37	chr17	27959445	27959445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcattctttgaattcttacGagtggacaatgaggtacatg	9	6	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:27959445G>A	uc002heo.1	-	15	2686	c.2686C>T	c.(2686-2688)CGT>TGT	p.R896C	SSH2_uc010wbh.1_Missense_Mutation_p.R923C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	896					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			skin(2)	2						GAATTCTTACGAGTGGACAAT	0.512													A	27959445	G	A	27959445	3	1	174	1	0	0	0	0	1	0	0	0	15184	1058	37	1	1589	1	SSH2	17	27959445	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	17591562	27959445	53235765	167	95261											
WIPF2	147179	broad.mit.edu	37	chr17	38421332	38421332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctccacccacctcgGcctccccatctttactgagt	4	21	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:38421332G>T	uc002hug.1	+	5	1144	c.904G>T	c.(904-906)GCC>TCC	p.A302S	WIPF2_uc002huh.1_Missense_Mutation_p.A152S|WIPF2_uc010cww.1_Missense_Mutation_p.A152S|WIPF2_uc002hui.1_Missense_Mutation_p.A302S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.A302S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	302						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						ACCCACCTCGGCCTCCCCATC	0.572										HNSCC(43;0.11)			T	38421332	G	T	38421332	3	4	174	1	0	0	0	0	1	0	0	0	17365	1203	42	5	918	5	WIPF2	17	38421332	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	10461887	38421332	42773878	168	95262											
NGFR	4804	broad.mit.edu	37	chr17	47590140	47590140	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggaggtggagaagcttctCaacggctctgcgggggacac	17	9	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:47590140C>G	uc002ioz.3	+	6	1178	c.1053C>G	c.(1051-1053)CTC>CTG	p.L351L		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	351	Cytoplasmic (Potential).|Death.				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				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					AGAAGCTTCTCAACGGCTCTG	0.662													G	47590140	C	G	47590140	2	3	174	1	0	0	0	0	0	0	0	1	10396	813	29	5		5	NGFR	17	47590140	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	9168808	47590140	33605070	169	95263											
COL1A1	1277	broad.mit.edu	37	chr17	48271380	48271380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcctgggggtccggggCgaccatcttgaccggcggga	20	11	1	1	rs1800211		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:48271380C>T	uc002iqm.2	-	25	1817	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	564	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(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGGTCCGGGGCGACCATCTTG	0.622			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						T	48271380	C	T	48271380	3	4	174	1	0	0	0	0	1	0	0	0	3677	768	27	1	2811	1	COL1A1	17	48271380	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	681240	48271380	32923830	170	95264											
TNRC6C	57690	broad.mit.edu	37	chr17	76087561	76087561	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgtcaacagcatggacatGaccggtggcttgtcggtgaa	13	8	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr17:76087561G>T	uc002jud.2	+	15	4443	c.3843G>T	c.(3841-3843)ATG>ATT	p.M1281I	TNRC6C_uc002juf.2_Missense_Mutation_p.M1278I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1281					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCATGGACATGACCGGTGGCT	0.542													T	76087561	G	T	76087561	3	4	174	1	0	0	0	0	1	0	0	0	16339	1290	45	5	3889	5	TNRC6C	17	76087561	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	27816181	76087561	5107649	171	95265											
SMAD2	4087	broad.mit.edu	37	chr18	45374881	45374881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatttctaccgtggcatttCggttaacattggagagtaaa	9	7	2	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr18:45374881C>T	uc002lcy.2	-	8	1210	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	SMAD2_uc002lcz.2_Missense_Mutation_p.R321Q|SMAD2_uc010xdc.1_Missense_Mutation_p.R291Q|SMAD2_uc010xdd.1_Missense_Mutation_p.R291Q	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	321	MH2.				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			large_intestine(3)|lung(1)|central_nervous_system(1)	5						CGTGGCATTTCGGTTAACATT	0.398													T	45374881	C	T	45374881	3	4	174	1	0	0	0	0	1	0	0	0	14758	884	31	1	457	1	SMAD2	18	45374881	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08		45374881	32702367	172	95266											
ZNF407	55628	broad.mit.edu	37	chr18	72343302	72343302	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagggggtattgcattagaTgaaacagggaaggagacctt	15	4	0	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr18:72343302T>G	uc002llw.2	+	1	384	c.327T>G	c.(325-327)GAT>GAG	p.D109E	ZNF407_uc010xfc.1_Missense_Mutation_p.D109E|ZNF407_uc010dqu.1_Missense_Mutation_p.D109E|ZNF407_uc002llu.2_Missense_Mutation_p.D108E	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTGCATTAGATGAAACAGGGA	0.448													G	72343302	T	G	72343302	3	3	174	1	0	0	0	0	1	0	0	0	17884	1461	51	5	329	5	ZNF407	18	72343302	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	26968421	72343302	5733946	173	95267											
RFX2	5990	broad.mit.edu	37	chr19	6040129	6040129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccaccatgctgtgggaGgggaccgctggcggggacga	18	11	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:6040129G>A	uc002meb.2	-	5	653	c.384C>T	c.(382-384)CCC>CCT	p.P128P	RFX2_uc002mec.2_Silent_p.P128P|RFX2_uc010xiy.1_Silent_p.P83P	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						TGCTGTGGGAGGGGACCGCTG	0.682													A	6040129	G	A	6040129	2	1	174	1	0	0	0	0	0	0	0	1	13263	987	35	4		4	RFX2	19	6040129	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08		6040129	53088854	174	95268											
MUC16	94025	broad.mit.edu	37	chr19	9046975	9046975	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactggtgtctgtcccagaActagggaccagtgaggtcac	13	10	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:9046975A>C	uc002mkp.2	-	5	34860	c.34656T>G	c.(34654-34656)AGT>AGG	p.S11552R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11554	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTCCCAGAACTAGGGACCA	0.517													C	9046975	A	C	9046975	3	2	174	1	0	0	0	0	1	0	0	0	9973	40	2	5	9187	5	MUC16	19	9046975	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	3006846	9046975	50082008	175	95269											
MUC16	94025	broad.mit.edu	37	chr19	9088917	9088917	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactagtctctggccaAgttgtgctttggggtgcagc	15	9	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:9088917A>T	uc002mkp.2	-	1	3102	c.2898T>A	c.(2896-2898)ACT>ACA	p.T966T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	966	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTCTGGCCAAGTTGTGCTTT	0.473													T	9088917	A	T	9088917	2	4	174	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9088917	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	41942	9088917	50040066	176	95270											
ZNF317	57693	broad.mit.edu	37	chr19	9271896	9271896	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcacatgcgaagccacacGggggagaaaccgtacgaatg	13	11	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:9271896G>T	uc002mku.2	+	7	1850	c.1575G>T	c.(1573-1575)ACG>ACT	p.T525T	ZNF317_uc002mkv.2_Silent_p.T384T|ZNF317_uc002mkw.2_Silent_p.T493T|ZNF317_uc002mkx.2_Silent_p.T440T|ZNF317_uc002mky.2_Silent_p.T408T	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAGCCACACGGGGGAGAAAC	0.557													T	9271896	G	T	9271896	2	4	174	1	0	0	0	0	0	0	0	1	17832	1103	39	5		5	ZNF317	19	9271896	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	182979	9271896	49857087	177	95271											
ZNF85	7639	broad.mit.edu	37	chr19	21132661	21132661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactgaacataagaaaatTcatactggagagaaacccta	6	8	1	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:21132661T>G	uc002npg.3	+	4	1468	c.1341T>G	c.(1339-1341)ATT>ATG	p.I447M	ZNF85_uc010ecn.2_Missense_Mutation_p.I382M|ZNF85_uc010eco.2_Missense_Mutation_p.I395M|ZNF85_uc002npi.2_Missense_Mutation_p.I388M	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	447	C2H2-type 11; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						ATAAGAAAATTCATACTGGAG	0.323													G	21132661	T	G	21132661	3	3	174	1	0	0	0	0	1	0	0	0	18190	1771	62	5	1355	5	ZNF85	19	21132661	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	11860765	21132661	37996322	178	95272											
ZNF98	148198	broad.mit.edu	37	chr19	22574931	22574931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagaatgaattctcTtatgtgtagtaaggtgggat	10	6	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:22574931T>G	uc002nqt.2	-	4	1228	c.1106A>C	c.(1105-1107)AAG>ACG	p.K369T		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	369	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATGAATTCTCTTATGTGTAGT	0.383													G	22574931	T	G	22574931	3	3	174	1	0	0	0	0	1	0	0	0	18200	1609	56	5	616	5	ZNF98	19	22574931	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	1442270	22574931	36554052	179	95273											
C19orf40	91442	broad.mit.edu	37	chr19	33464169	33464169	+	Nonsense_Mutation	SNP	G	G	T													tggggcatattgtggccaatGagaaatggcgcgggtcacag							TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:33464169G>T	uc002nud.3	+	2	185	c.67G>T	c.(67-69)GAG>TAG	p.E23*	CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	23					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					TGTGGCCAATGAGAAATGGCG	0.557								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks					T	33464169	G	T	33464169	4	4	174	1	0	0	0	0	0	1	0	0	1923	1291	45	5	69	5	C19orf40	19	33464169	Nonsense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	10889238	33464169	25664814	180	95274	474	2									
C19orf40	91442	broad.mit.edu	37	chr19	33464171	33464171	+	Silent	SNP	G	G	A													gggcatattgtggccaatgaGaaatggcgcgggtcacagct							TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:33464171G>A	uc002nud.3	+	2	187	c.69G>A	c.(67-69)GAG>GAA	p.E23E	CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	23					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)					TGGCCAATGAGAAATGGCGCG	0.557								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks					A	33464171	G	A	33464171	2	1	174	1	0	0	0	0	0	0	0	1	1923	933	33	4		4	C19orf40	19	33464171	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	2	33464171	25664812	181	95275	474	2									
ZFP82	284406	broad.mit.edu	37	chr19	36884051	36884051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaggctttccagcattcCttacattcgtaaggtttttc	6	10	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:36884051C>T	uc002ody.1	-	5	1426	c.1191G>A	c.(1189-1191)AAG>AAA	p.K397K		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	397	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TCCAGCATTCCTTACATTCGT	0.403													T	36884051	C	T	36884051	2	4	174	1	0	0	0	0	0	0	0	1	17650	680	24	4		4	ZFP82	19	36884051	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	3419880	36884051	22244932	182	95276											
GIPR	2696	broad.mit.edu	37	chr19	46174616	46174616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatgccactgcccgtgcGtcctgcccctggtacctgcc	9	20	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:46174616G>A	uc002pcu.1	+	4	345	c.246G>A	c.(244-246)GCG>GCA	p.A82A	GIPR_uc002pct.1_Silent_p.A82A|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	82	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		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)		CTGCCCGTGCGTCCTGCCCCT	0.657													A	46174616	G	A	46174616	2	1	174	1	0	0	0	0	0	0	0	1	6395	1132	40	1		1	GIPR	19	46174616	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	9290565	46174616	12954367	183	95277											
MYBPC2	4606	broad.mit.edu	37	chr19	50958830	50958830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaccaccaccacactcaAgtggaggcctccgaacagga	9	15	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:50958830A>G	uc002psf.2	+	20	2318	c.2267A>G	c.(2266-2268)AAG>AGG	p.K756R		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	756	Fibronectin type-III 2.				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)		ACCACACTCAAGTGGAGGCCT	0.597													G	50958830	A	G	50958830	3	3	174	1	0	0	0	0	1	0	0	0	10012	72	3	3	2345	3	MYBPC2	19	50958830	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	4784214	50958830	8170153	184	95278											
VSTM1	284415	broad.mit.edu	37	chr19	54544331	54544331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcactccttgggggtctgCcgtctttggagaaaatagat	13	8	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:54544331C>T	uc002qcw.3	-	9	771	c.595G>A	c.(595-597)GCA>ACA	p.A199T	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.A168T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	199						integral to membrane					0	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)		TGGGGGTCTGCCGTCTTTGGA	0.358													T	54544331	C	T	54544331	3	4	174	1	0	0	0	0	1	0	0	0	17225	739	26	2	119	2	VSTM1	19	54544331	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	3585501	54544331	4584652	185	95279											
PEG3	5178	broad.mit.edu	37	chr19	57327776	57327776	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttctccttattgtaAgttttctgacgccttttaag	7	9	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr19:57327776A>C	uc002qnu.2	-	7	2385	c.2034T>G	c.(2032-2034)ACT>ACG	p.T678T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.T649T|PEG3_uc002qnv.2_Silent_p.T678T|PEG3_uc002qnw.2_Silent_p.T554T|PEG3_uc002qnx.2_Silent_p.T552T|PEG3_uc010etr.2_Silent_p.T678T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	678					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTATTGTAAGTTTTCTGAC	0.428													C	57327776	A	C	57327776	2	2	174	1	0	0	0	0	0	0	0	1	11720	59	3	5		5	PEG3	19	57327776	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	2783445	57327776	1801207	186	95280											
SEC23B	10483	broad.mit.edu	37	chr20	18531753	18531753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtactcttggatagcagCagcattctagctgacagaat	9	10	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:18531753C>T	uc002wqz.1	+	17	2369	c.1926C>T	c.(1924-1926)AGC>AGT	p.S642S	SEC23B_uc002wra.1_Silent_p.S642S|SEC23B_uc002wrb.1_Silent_p.S642S|SEC23B_uc010zsb.1_Silent_p.S624S|SEC23B_uc002wrc.1_Silent_p.S642S	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	642					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			ovary(1)	1						TGGATAGCAGCAGCATTCTAG	0.403													T	18531753	C	T	18531753	2	4	174	1	0	0	0	0	0	0	0	1	13992	709	25	2		2	SEC23B	20	18531753	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08		18531753	44493767	187	95281											
CST2	1470	broad.mit.edu	37	chr20	23804666	23804666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagatccctaggcttcTtgacacctggaattcaccag	9	13	2	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:23804666T>C	uc002wtq.1	-	3	432	c.417A>G	c.(415-417)CAA>CAG	p.Q139Q		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	139						extracellular region	cysteine-type endopeptidase inhibitor activity				0						CCTAGGCTTCTTGACACCTGG	0.567													C	23804666	T	C	23804666	2	2	174	1	0	0	0	0	0	0	0	1	3972	1606	56	3		3	CST2	20	23804666	Silent	SNP	T	TCGA-CG-4444-01A-01D-1158-08	5272913	23804666	39220854	188	95282											
PTPRT	11122	broad.mit.edu	37	chr20	40944533	40944533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgtagagaatcgaggcTggaggcattccgatagctca	14	7	1	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:40944533T>C	uc002xkg.2	-	12	2153	c.1969A>G	c.(1969-1971)AGC>GGC	p.S657G	PTPRT_uc010ggj.2_Missense_Mutation_p.S657G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	657	Extracellular (Potential).|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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAATCGAGGCTGGAGGCATTC	0.507													C	40944533	T	C	40944533	3	2	174	1	0	0	0	0	1	0	0	0	12812	1580	55	3	2497	3	PTPRT	20	40944533	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	17139867	40944533	22080987	189	95283											
ZNF334	55713	broad.mit.edu	37	chr20	45130817	45130817	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagtaagggctgactgacaGaagaaggttttcccacattc	11	9	0	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:45130817G>A	uc002xsc.2	-	5	1345	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	ZNF334_uc002xsa.2_Silent_p.F410F|ZNF334_uc002xsb.2_Silent_p.F349F|ZNF334_uc002xsd.2_Silent_p.F349F|ZNF334_uc010ghl.2_Silent_p.F386F	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	387	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CTGACTGACAGAAGAAGGTTT	0.423													A	45130817	G	A	45130817	2	1	174	1	0	0	0	0	0	0	0	1	17848	933	33	4		4	ZNF334	20	45130817	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	4186284	45130817	17894703	190	95284											
PHACTR3	116154	broad.mit.edu	37	chr20	58411616	58411616	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagaaatatcttgaaacGtgagtagctggtgattcctc	11	6	1	5			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:58411616G>A	uc002yau.2	+	9	1851	c.1384_splice	c.e9+1	p.Q462_splice	PHACTR3_uc002yat.2_Splice_Site_p.Q459_splice|PHACTR3_uc010zzw.1_Splice_Site_p.Q421_splice|PHACTR3_uc002yav.2_Splice_Site_p.Q421_splice|PHACTR3_uc002yaw.2_Splice_Site_p.Q421_splice|PHACTR3_uc002yax.2_Splice_Site_p.Q351_splice|PHACTR3_uc002yay.2_Splice_Site_p.Q31_splice	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1							nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ATCTTGAAACGTGAGTAGCTG	0.488													A	58411616	G	A	58411616	5	1	174	1	0	0	0	0	0	0	1	0	11811	1159	40	1	1419	1	PHACTR3	20	58411616	Splice_Site	SNP	G	TCGA-CG-4444-01A-01D-1158-08	13280799	58411616	4613904	191	95285											
CDH4	1002	broad.mit.edu	37	chr20	60427821	60427821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttccagctccgagcccaCgctgtggacatgaatggcaa	10	13	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:60427821C>T	uc002ybn.1	+	6	758	c.744C>T	c.(742-744)CAC>CAT	p.H248H	CDH4_uc002ybp.1_Silent_p.H174H	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	248	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCCGAGCCCACGCTGTGGACA	0.607													T	60427821	C	T	60427821	2	4	174	1	0	0	0	0	0	0	0	1	3112	535	19	1		1	CDH4	20	60427821	Silent	SNP	C	TCGA-CG-4444-01A-01D-1158-08	2016205	60427821	2597699	192	95286											
KCNQ2	3785	broad.mit.edu	37	chr20	62039791	62039791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccaccttcccgagccgtCccatcatgctggggtcctcg	9	18	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:62039791C>T	uc002yey.1	-	16	2039	c.1862G>A	c.(1861-1863)GGA>GAA	p.G621E	KCNQ2_uc002yez.1_Missense_Mutation_p.G590E|KCNQ2_uc002yfa.1_Missense_Mutation_p.G603E|KCNQ2_uc002yfb.1_Missense_Mutation_p.G593E	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	621	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCCGAGCCGTCCCATCATGCT	0.711													T	62039791	C	T	62039791	3	4	174	1	0	0	0	0	1	0	0	0	8083	855	30	4	764	4	KCNQ2	20	62039791	Missense_Mutation	SNP	C	TCGA-CG-4444-01A-01D-1158-08	1611970	62039791	985729	193	95287											
MYT1	4661	broad.mit.edu	37	chr20	62853334	62853334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagcggaagtatccggGggaagtcaccctgaccaact	14	10	1	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr20:62853334G>A	uc002yii.2	+	14	2694	c.2330G>A	c.(2329-2331)GGG>GAG	p.G777E	MYT1_uc002yih.2_Missense_Mutation_p.G479E|MYT1_uc002yij.2_Missense_Mutation_p.G436E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	777					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGTATCCGGGGGAAGTCACC	0.502													A	62853334	G	A	62853334	3	1	174	1	0	0	0	0	1	0	0	0	10106	1232	43	4	2376	4	MYT1	20	62853334	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08	813543	62853334	172186	194	95288											
CECR1	51816	broad.mit.edu	37	chr22	17662401	17662401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagccacatctgctatgaacTtatcccatctcttcttccag	4	14	3	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr22:17662401T>G	uc002zmk.1	-	9	1720	c.1508A>C	c.(1507-1509)AAG>ACG	p.K503T	CECR1_uc010gqu.1_Missense_Mutation_p.K503T|CECR1_uc011agi.1_Missense_Mutation_p.K461T|CECR1_uc002zmj.1_Missense_Mutation_p.K262T	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	503					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			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGCTATGAACTTATCCCATCT	0.488													G	17662401	T	G	17662401	3	3	174	1	0	0	0	0	1	0	0	0	3205	1609	56	5	31	5	CECR1	22	17662401	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08		17662401	33642165	195	95289											
MICAL3	57553	broad.mit.edu	37	chr22	18324716	18324716	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcggtagttctccagctcGatccgctctggggtgcccct	13	14	2	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chr22:18324716G>A	uc002zng.3	-	20	3026	c.2673C>T	c.(2671-2673)ATC>ATT	p.I891I	MICAL3_uc011agl.1_Silent_p.I891I|MICAL3_uc002znh.2_Silent_p.I891I|MICAL3_uc002znj.1_Silent_p.I619I|MICAL3_uc002znk.1_Silent_p.I891I|MICAL3_uc002znl.1_Silent_p.I524I	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	891	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TCTCCAGCTCGATCCGCTCTG	0.647													A	18324716	G	A	18324716	2	1	174	1	0	0	0	0	0	0	0	1	9571	1048	37	1		1	MICAL3	22	18324716	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	662315	18324716	32979850	196	95290											
CNKSR2	22866	broad.mit.edu	37	chrX	21670583	21670583	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgagtatttcttctgaagtaGatgtaatcacttcctctcta	6	8	4	3			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chrX:21670583G>C	uc004czx.1	+	22	3085	c.3049G>C	c.(3049-3051)GAT>CAT	p.D1017H	CNKSR2_uc011mjo.1_Missense_Mutation_p.D987H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	1017					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TTCTGAAGTAGATGTAATCAC	0.398													C	21670583	G	C	21670583	3	2	174	1	0	0	0	0	1	0	0	0	3607	942	33	5	3144	5	CNKSR2	23	21670583	Missense_Mutation	SNP	G	TCGA-CG-4444-01A-01D-1158-08		21670583	133599977	197	95291											
MAGEB6	158809	broad.mit.edu	37	chrX	26212089	26212089	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtcccactcttcctcAtcctcttctcgcgcttgtct	6	16	5	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chrX:26212089A>C	uc004dbr.2	+	2	275	c.126A>C	c.(124-126)TCA>TCC	p.S42S	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	42	Ser-rich.									ovary(3)	3						ACTCTTCCTCATCCTCTTCTC	0.572													C	26212089	A	C	26212089	2	2	174	1	0	0	0	0	0	0	0	1	9179	204	8	5		5	MAGEB6	23	26212089	Silent	SNP	A	TCGA-CG-4444-01A-01D-1158-08	4541506	26212089	129058471	198	95292											
DMD	1756	broad.mit.edu	37	chrX	32662249	32662249	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaaataaggacttacTtgctttgtttttccatgcta	5	7	0	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chrX:32662249T>G	uc004dda.1	-	11	1575	c.1331A>C	c.(1330-1332)AAT>ACT	p.N444T	DMD_uc004dcz.2_Missense_Mutation_p.N321T|DMD_uc004dcy.1_Missense_Mutation_p.N440T|DMD_uc004ddb.1_Missense_Mutation_p.N436T|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.N436T|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	444	Spectrin 1.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				AAGGACTTACTTGCTTTGTTT	0.338													G	32662249	T	G	32662249	3	3	174	1	0	0	0	0	1	0	0	0	4580	1623	56	5	10245	5	DMD	23	32662249	Missense_Mutation	SNP	T	TCGA-CG-4444-01A-01D-1158-08	6450160	32662249	122608311	199	95293											
FAM46D	169966	broad.mit.edu	37	chrX	79698243	79698243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgaatggttccgtagcaAgttacatacttgcaagccac	9	9	0	1			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chrX:79698243A>C	uc004edl.1	+	5	539	c.205A>C	c.(205-207)AGT>CGT	p.S69R	FAM46D_uc004edm.1_Missense_Mutation_p.S69R	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2						TTCCGTAGCAAGTTACATACT	0.378													C	79698243	A	C	79698243	3	2	174	1	0	0	0	0	1	0	0	0	5568	72	3	5	207	5	FAM46D	23	79698243	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	47035994	79698243	75572317	200	95294											
PCDH11X	27328	broad.mit.edu	37	chrX	91131988	91131988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaccacccagtctttaAggagacagagattgaagtca	9	9	2	4			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chrX:91131988A>G	uc004efk.1	+	2	1594	c.749A>G	c.(748-750)AAG>AGG	p.K250R	PCDH11X_uc004efl.1_Missense_Mutation_p.K250R|PCDH11X_uc004efo.1_Missense_Mutation_p.K250R|PCDH11X_uc010nmv.1_Missense_Mutation_p.K250R|PCDH11X_uc004efm.1_Missense_Mutation_p.K250R|PCDH11X_uc004efn.1_Missense_Mutation_p.K250R|PCDH11X_uc004efh.1_Missense_Mutation_p.K250R|PCDH11X_uc004efj.1_Missense_Mutation_p.K250R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	250	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CCAGTCTTTAAGGAGACAGAG	0.428													G	91131988	A	G	91131988	3	3	174	1	0	0	0	0	1	0	0	0	11508	72	3	3	755	3	PCDH11X	23	91131988	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	11433745	91131988	64138572	201	95295											
NRK	203447	broad.mit.edu	37	chrX	105153078	105153078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgctcatgccactacAggcacaggttagggcaccta	12	12	1	0			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chrX:105153078A>G	uc004emd.2	+	13	1748	c.1445A>G	c.(1444-1446)CAG>CGG	p.Q482R	NRK_uc010npc.1_Missense_Mutation_p.Q150R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	482	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						ATGCCACTACAGGCACAGGTT	0.542										HNSCC(51;0.14)			G	105153078	A	G	105153078	3	3	174	1	0	0	0	0	1	0	0	0	10655	188	7	3	1495	3	NRK	23	105153078	Missense_Mutation	SNP	A	TCGA-CG-4444-01A-01D-1158-08	14021090	105153078	50117482	202	95296											
IGSF1	3547	broad.mit.edu	37	chrX	130417042	130417042	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtaatgtccagtatcttgGatcttcaaagactggaagaa	10	6	3	2			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3371f62e-5697-420b-9420-a5076ce77fc1	80c8f666-d087-4d69-87fa-a9072901d925	g.chrX:130417042G>A	uc004ewd.2	-	6	1102	c.864C>T	c.(862-864)ATC>ATT	p.I288I	IGSF1_uc004ewe.3_Silent_p.I277I|IGSF1_uc004ewf.2_Silent_p.I268I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	288	Ig-like C2-type 3.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CAGTATCTTGGATCTTCAAAG	0.403													A	130417042	G	A	130417042	2	1	174	1	0	0	0	0	0	0	0	1	7596	1164	41	4		4	IGSF1	23	130417042	Silent	SNP	G	TCGA-CG-4444-01A-01D-1158-08	25263964	130417042	24853518	203	95297											
HIVEP3	59269	broad.mit.edu	37	chr1	41979398	41979398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accctctcgtccttccgagtCctggaacaggtcgtcactgg	10	15	2	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:41979398C>A	uc001cgz.3	-	8	6707	c.5494G>T	c.(5494-5496)GAC>TAC	p.D1832Y	HIVEP3_uc001cha.3_Missense_Mutation_p.D1832Y|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1832	Acidic 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTTCCGAGTCCTGGAACAGG	0.562													A	41979398	C	A	41979398	3	1	175	1	0	0	0	0	1	0	0	0	7188	855	30	5	1734	5	HIVEP3	1	41979398	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08		41979398	207271223	1	95298											
FGGY	55277	broad.mit.edu	37	chr1	60073530	60073530	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggccttatttctcagccaTggtacctgggttctggctga	13	10	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:60073530T>A	uc001czi.3	+	9	1171	c.959T>A	c.(958-960)ATG>AAG	p.M320K	FGGY_uc001czg.2_Missense_Mutation_p.M208K|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.M320K|FGGY_uc001czj.3_Missense_Mutation_p.M319K|FGGY_uc001czk.3_Missense_Mutation_p.M208K|FGGY_uc001czl.3_Missense_Mutation_p.M232K|FGGY_uc001czm.3_Missense_Mutation_p.M21K	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	320					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TTCTCAGCCATGGTACCTGGG	0.438													A	60073530	T	A	60073530	3	1	175	1	0	0	0	0	1	0	0	0	5871	1464	51	5	989	5	FGGY	1	60073530	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	18094132	60073530	189177091	2	95299											
DOCK7	85440	broad.mit.edu	37	chr1	63119745	63119745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaattcaatcaaatccCgtaaaggcccagaatccaca	7	11	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:63119745C>T	uc001daq.2	-	3	264	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	DOCK7_uc001dan.2_5'Flank|DOCK7_uc001dao.2_5'Flank|DOCK7_uc001dap.2_Missense_Mutation_p.R77Q|DOCK7_uc009wah.1_Missense_Mutation_p.R77Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	77					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			ovary(2)	2						AATCAAATCCCGTAAAGGCCC	0.433													T	63119745	C	T	63119745	3	4	175	1	0	0	0	0	1	0	0	0	4692	652	23	1	6287	1	DOCK7	1	63119745	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	3046215	63119745	186130876	3	95300											
SERBP1	26135	broad.mit.edu	37	chr1	67895811	67895811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggagttggtctgggccGcggcctgagctgcgctcttg	17	11	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:67895811G>A	uc001ddv.2	-	1	313	c.173C>T	c.(172-174)GCG>GTG	p.A58V	SERBP1_uc001ddx.2_Missense_Mutation_p.A58V|SERBP1_uc001ddy.2_Missense_Mutation_p.A58V|SERBP1_uc001ddw.2_Missense_Mutation_p.A58V	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	58					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						GGTCTGGGCCGCGGCCTGAGC	0.657													A	67895811	G	A	67895811	3	1	175	1	0	0	0	0	1	0	0	0	14075	1087	38	1	1085	1	SERBP1	1	67895811	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	4776066	67895811	181354810	4	95301											
TMEM56	148534	broad.mit.edu	37	chr1	95609526	95609526	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcacctttcagcttcttttCtactttgtaagttactggtt	5	9	4	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:95609526C>A	uc001drb.2	+	2	360	c.69C>A	c.(67-69)TTC>TTA	p.F23L	RWDD3_uc001drd.3_Missense_Mutation_p.F23L|TMEM56_uc001drc.2_Missense_Mutation_p.F23L	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	23	Helical; (Potential).					integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		AGCTTCTTTTCTACTTTGTAA	0.353													A	95609526	C	A	95609526	3	1	175	1	0	0	0	0	1	0	0	0	16180	912	32	5	71	5	TMEM56	1	95609526	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	27713715	95609526	153641095	5	95302											
NTNG1	22854	broad.mit.edu	37	chr1	107691262	107691262	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccctttgggttacggTgtcctcagtgatgcagccct	11	12	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:107691262T>A	uc001dvh.3	+	2	765	c.47T>A	c.(46-48)GTG>GAG	p.V16E	NTNG1_uc001dvf.3_Missense_Mutation_p.V16E|NTNG1_uc010out.1_Missense_Mutation_p.V16E|NTNG1_uc001dvc.3_Missense_Mutation_p.V16E|NTNG1_uc001dvd.1_Missense_Mutation_p.V16E	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	16					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		TGGGTTACGGTGTCCTCAGTG	0.418													A	107691262	T	A	107691262	3	1	175	1	0	0	0	0	1	0	0	0	10704	1696	59	5	49	5	NTNG1	1	107691262	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	12081736	107691262	141559359	6	95303											
STXBP3	6814	broad.mit.edu	37	chr1	109342845	109342845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctttccttccttaggatGctattgataatagattagat	6	7	1	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:109342845G>A	uc001dvy.2	+	17	1528	c.1453G>A	c.(1453-1455)GCT>ACT	p.A485T	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	485					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			ovary(3)|central_nervous_system(1)	4		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)		TCCTTAGGATGCTATTGATAA	0.358													A	109342845	G	A	109342845	3	1	175	1	0	0	0	0	1	0	0	0	15353	1319	46	2	1519	2	STXBP3	1	109342845	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	1651583	109342845	139907776	7	95304											
FLG2	388698	broad.mit.edu	37	chr1	152328248	152328248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgtcctgagccagaaaCatgttgtccaaagccagagg	12	9	0	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:152328248C>T	uc001ezw.3	-	3	2087	c.2014G>A	c.(2014-2016)GTT>ATT	p.V672I	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	672	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGAAACATGTTGTCCA	0.483													T	152328248	C	T	152328248	3	4	175	1	0	0	0	0	1	0	0	0	5923	478	17	4	5165	4	FLG2	1	152328248	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	42985403	152328248	96922373	8	95305											
MTX1	4580	broad.mit.edu	37	chr1	155179076	155179076	+	Frame_Shift_Del	DEL	G	G	-													tggagctgttctgctggtcaGggggctgggggctgccgtca							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:155179076delG	uc001fjb.2	+	1	587	c.481delG	c.(481-483)GGGfs	p.G161fs	RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Frame_Shift_Del_p.G161fs	NM_002455	NP_002446	Q13505	MTX1_HUMAN	metaxin 1 isoform 1	161					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			skin(1)	1	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)			CTGCTGGTCAGGGGGCTGGGG	0.706													-	155179076	G	-	155179076	7	5	175	1	0	1	0	1	0	0	0	0	9967	1000	35	0	483	0	MTX1	1	155179076	Frame_Shift_Del	DEL	G	TCGA-CG-4449-01A-01D-1158-08	2850828	155179076	94071545	9	95306											
OR10Z1	128368	broad.mit.edu	37	chr1	158576420	158576420	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatgtacctcttcctttcCttcctatccttctctgagac	3	17	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:158576420C>A	uc010pio.1	+	1	192	c.192C>A	c.(190-192)TCC>TCA	p.S64S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TCTTCCTTTCCTTCCTATCCT	0.522													A	158576420	C	A	158576420	2	1	175	1	0	0	0	0	0	0	0	1	10923	668	24	5		5	OR10Z1	1	158576420	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08	3397344	158576420	90674201	10	95307											
FAM5B	57795	broad.mit.edu	37	chr1	177250031	177250031	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgttggccttgtccttgcaGatctgtctcaccaagaacag	9	11	2	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:177250031G>C	uc001glf.2	+	8	2031	c.1719G>C	c.(1717-1719)CAG>CAC	p.Q573H	FAM5B_uc001glg.2_Missense_Mutation_p.Q468H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	573						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGTCCTTGCAGATCTGTCTCA	0.567													C	177250031	G	C	177250031	3	2	175	1	0	0	0	0	1	0	0	0	5593	933	33	5	1745	5	FAM5B	1	177250031	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	18673611	177250031	72000590	11	95308											
PTPRC	5788	broad.mit.edu	37	chr1	198719669	198719669	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgctcagggaccactgaagGagaccattggtgacttttgg	13	9	1	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:198719669G>T	uc001gur.1	+	29	3295	c.3115G>T	c.(3115-3117)GAG>TAG	p.E1039*	PTPRC_uc001gus.1_Nonsense_Mutation_p.E991*|PTPRC_uc001gut.1_Nonsense_Mutation_p.E878*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1039	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						ACCACTGAAGGAGACCATTGG	0.418													T	198719669	G	T	198719669	4	4	175	1	0	0	0	0	0	1	0	0	12797	1175	41	5	3236	5	PTPRC	1	198719669	Nonsense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	21469638	198719669	50530952	12	95309											
PIGR	5284	broad.mit.edu	37	chr1	207110552	207110554	+	In_Frame_Del	DEL	CAC	CAC	-													tccttcctcaggcctgtgatCaccacactgaatgagccatc							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:207110551_207110553TCAC>T	uc001hez.3	-	3	1116_1118	c.932_934GTGA>A	c.(931-936)gtgatc>gAtc	p.311_312VI>D	PIGR_uc009xbz.3_In_Frame_Del_p.311_312VI>D	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	311	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCCTGTGATCACCACACTGAA	0.601													-	207110554	CAC	-	207110552	7	5	175	1	0	1	0	1	0	0	0	0	11897	813	29	0	1393	0	PIGR	1	207110552	In_Frame_Del	DEL	CAC	TCGA-CG-4449-01A-01D-1158-08	8390883	207110552	42140069	13	95310											
C1orf116	79098	broad.mit.edu	37	chr1	207198408	207198408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtcgtagctgctatcaCtctgttgggtttggggttgg	16	6	2	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:207198408C>T	uc001hfd.2	-	3	366	c.107G>A	c.(106-108)AGT>AAT	p.S36N	C1orf116_uc009xcb.1_Translation_Start_Site	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	36						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)					GCTGCTATCACTCTGTTGGGT	0.368													T	207198408	C	T	207198408	3	4	175	1	0	0	0	0	1	0	0	0	1989	579	20	4	1706	4	C1orf116	1	207198408	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	87856	207198408	42052213	14	95311											
RYR2	6262	broad.mit.edu	37	chr1	237774171	237774171	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcacacgtcctgtggagcaGaatgcccaaccagtttttga	10	11	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:237774171G>A	uc001hyl.1	+	36	4913	c.4793G>A	c.(4792-4794)AGA>AAA	p.R1598K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1598	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CTGTGGAGCAGAATGCCCAAC	0.547													A	237774171	G	A	237774171	3	1	175	1	0	0	0	0	1	0	0	0	13769	942	33	4	4935	4	RYR2	1	237774171	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	30575763	237774171	11476450	15	95312											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159615	242159615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatctctgccatggttgcGctcatgctgaccaggctctt	10	12	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:242159615G>A	uc001hzk.2	-	4	369	c.294C>T	c.(292-294)AGC>AGT	p.S98S		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	98					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATGGTTGCGCTCATGCTGA	0.567													A	242159615	G	A	242159615	2	1	175	1	0	0	0	0	0	0	0	1	9233	1078	38	1		1	MAP1LC3C	1	242159615	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	4385444	242159615	7091006	16	95313											
CEP170	9859	broad.mit.edu	37	chr1	243328999	243328999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgtccactgagcctcctCcctttgttcttgttgttgaa	9	11	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr1:243328999C>T	uc001hzs.2	-	13	2671	c.2263G>A	c.(2263-2265)GAG>AAG	p.E755K	CEP170_uc001hzt.2_Missense_Mutation_p.E657K|CEP170_uc001hzu.2_Missense_Mutation_p.E657K|CEP170_uc001hzv.1_Missense_Mutation_p.E133K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	755						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			TGAGCCTCCTCCCTTTGTTCT	0.393													T	243328999	C	T	243328999	3	4	175	1	0	0	0	0	1	0	0	0	3250	864	30	4	2553	4	CEP170	1	243328999	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	1169384	243328999	5921622	17	95314											
IAH1	285148	broad.mit.edu	37	chr2	9624561	9624561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcttctcttcaatagGttgcaaactaaatcgcctga	5	10	3	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:9624561G>T	uc002qzr.2	+	5	472	c.446G>T	c.(445-447)GGT>GTT	p.G149V	IAH1_uc002qzs.2_Missense_Mutation_p.G36V|IAH1_uc002qzt.2_Missense_Mutation_p.G36V|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	149					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTCAATAGGTTGCAAACTA	0.458													T	9624561	G	T	9624561	3	4	175	1	0	0	0	0	1	0	0	0	7471	1275	44	5	464	5	IAH1	2	9624561	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		9624561	233574812	18	95315											
BIRC6	57448	broad.mit.edu	37	chr2	32673876	32673877	+	Frame_Shift_Ins	INS	-	-	A													tttcagatatggattatataINSgctcaccatttgatccagtc							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:32673875_32673876T>TA	uc010ezu.3	+	21	4631_4632	c.4497_4498T>TA	c.(4495-4500)tatagcfs	p.Y1499fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1499					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.V1499V(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)					ATGGATTATATAGCTCACCATT	0.327													A	32673877	-	A	32673876	7	5	175	1	0	1	1	0	0	0	0	0	1438	420	15	0	4584	0	BIRC6	2	32673876	Frame_Shift_Ins	INS	-	TCGA-CG-4449-01A-01D-1158-08	23049315	32673876	210525497	19	95316											
TET3	200424	broad.mit.edu	37	chr2	74328640	74328640	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaggggccagccagctGgacagggcctggcagtcctt	16	14	0	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:74328640G>C	uc002skb.3	+	9	4320	c.4320G>C	c.(4318-4320)CTG>CTC	p.L1440L		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1440							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CCAGCCAGCTGGACAGGGCCT	0.612													C	74328640	G	C	74328640	2	2	175	1	0	0	0	0	0	0	0	1	15768	1335	47	5		5	TET3	2	74328640	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	41654764	74328640	168870733	20	95317											
XIRP2	129446	broad.mit.edu	37	chr2	168104460	168104460	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggactttcagaagcaaacTttgttaaagcaagaaacaaa	9	6	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:168104460T>G	uc002udx.2	+	8	6576	c.6558T>G	c.(6556-6558)ACT>ACG	p.T2186T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T2011T|XIRP2_uc010fpq.2_Silent_p.T1964T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2011					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGAAGCAAACTTTGTTAAAGC	0.408													G	168104460	T	G	168104460	2	3	175	1	0	0	0	0	0	0	0	1	17427	1596	56	5		5	XIRP2	2	168104460	Silent	SNP	T	TCGA-CG-4449-01A-01D-1158-08	93775820	168104460	75094913	21	95318											
XIRP2	129446	broad.mit.edu	37	chr2	168107180	168107180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatgaagcaactgttcGtagtcacgtgaaaacccatc	7	11	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:168107180G>A	uc002udx.2	+	8	9296	c.9278G>A	c.(9277-9279)CGT>CAT	p.R3093H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2918H|XIRP2_uc010fpq.2_Missense_Mutation_p.R2871H|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2918					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GCAACTGTTCGTAGTCACGTG	0.378													A	168107180	G	A	168107180	3	1	175	1	0	0	0	0	1	0	0	0	17427	1145	40	1	9308	1	XIRP2	2	168107180	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	2720	168107180	75092193	22	95319											
PGAP1	80055	broad.mit.edu	37	chr2	197708744	197708744	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataaacgaagatggtgtattGaggagtctttatgatgattg	12	2	1	4			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:197708744G>C	uc002utw.2	-	25	2507	c.2393C>G	c.(2392-2394)TCA>TGA	p.S798*	PGAP1_uc002utx.2_Nonsense_Mutation_p.S624*|PGAP1_uc010fsi.2_Nonsense_Mutation_p.S72*	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	798	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)	4						ATGGTGTATTGAGGAGTCTTT	0.348													C	197708744	G	C	197708744	4	2	175	1	0	0	0	0	0	1	0	0	11777	1294	45	5	387	5	PGAP1	2	197708744	Nonsense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	29601564	197708744	45490629	23	95320											
NBEAL1	65065	broad.mit.edu	37	chr2	204000806	204000806	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagtttagacctcagtggaaTtgactcatgtgaaatgagtg	12	5	2	4			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:204000806T>A	uc002uzt.3	+	27	4466	c.4133T>A	c.(4132-4134)ATT>AAT	p.I1378N	NBEAL1_uc002uzs.3_Missense_Mutation_p.I88N	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1378							binding			ovary(1)|skin(1)	2						CTCAGTGGAATTGACTCATGT	0.433													A	204000806	T	A	204000806	3	1	175	1	0	0	0	0	1	0	0	0	10188	1493	52	5	4235	5	NBEAL1	2	204000806	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	6292062	204000806	39198567	24	95321											
NEU4	129807	broad.mit.edu	37	chr2	242758315	242758315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctggagaacgtgcccGccagccccaagccgcccaac	11	18	0	1	rs144038379	by1000genomes	TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr2:242758315G>A	uc010fzr.2	+	4	1482	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.A466T|NEU4_uc002wcn.1_Missense_Mutation_p.A478T|NEU4_uc002wco.1_Missense_Mutation_p.A466T|NEU4_uc002wcp.1_Missense_Mutation_p.A478T	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	466						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		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)		GAACGTGCCCGCCAGCCCCAA	0.642													A	242758315	G	A	242758315	3	1	175	1	0	0	0	0	1	0	0	0	10344	1087	38	1	1449	1	NEU4	2	242758315	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	38757509	242758315	441058	25	95322											
CTDSPL	10217	broad.mit.edu	37	chr3	38017246	38017246	+	Frame_Shift_Del	DEL	G	G	-													agaccgctggggtgtgttccGggcccggctcttcagagaat							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:38017245_38017245CG>C	uc003chg.3	+	6	587	c.565_565CG>C	c.(565-567)cggfs	p.R189fs	CTDSPL_uc003chh.3_Frame_Shift_Del_p.R178fs	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like (CTDSPL), transcript variant 1, mRNA.	189	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		GGGTGTGTTCCGGGCCCGGCT	0.542													-	38017246	G	-	38017246	7	5	175	1	0	1	0	1	0	0	0	0	4005	1116	39	0	592	0	CTDSPL	3	38017246	Frame_Shift_Del	DEL	G	TCGA-CG-4449-01A-01D-1158-08		38017246	160005184	26	95323											
USP19	10869	broad.mit.edu	37	chr3	49149979	49149987	+	In_Frame_Del	DEL	AAAGCAGAG	AAAGCAGAG	-													aactctgaggatagcagctcAaagcagaggagcgtatcaga							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:49149978_49149986CAAAGCAGAG>C	uc003cwd.2	-	16	2592_2600	c.2273_2281CTCTGCTTTG>G	c.(2272-2283)ctctgctttgag>cGag	p.758_761LCFE>R	USP19_uc003cwa.3_In_Frame_Del_p.566_569LCFE>R|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_In_Frame_Del_p.861_864LCFE>R|USP19_uc011bcg.2_In_Frame_Del_p.849_852LCFE>R|USP19_uc003cwc.2_In_Frame_Del_p.516_519LCFE>R|USP19_uc011bch.2_In_Frame_Del_p.859_862LCFE>R	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	758					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.P761>?(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATAGCAGCTCAAAGCAGAGGAGCGTATC	0.555													-	49149987	AAAGCAGAG	-	49149979	7	5	175	1	0	1	0	1	0	0	0	0	17047	127	5	0	1716	0	USP19	3	49149979	In_Frame_Del	DEL	AAAGCAGAG	TCGA-CG-4449-01A-01D-1158-08	11132733	49149979	148872451	27	95324											
CNTN3	5067	broad.mit.edu	37	chr3	74351856	74351856	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttacctcttactatgaggtCagcagcagatgaaacactgt	8	9	2	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:74351856C>G	uc003dpm.1	-	13	1851	c.1771G>C	c.(1771-1773)GAC>CAC	p.D591H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	591	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		ACTATGAGGTCAGCAGCAGAT	0.403													G	74351856	C	G	74351856	3	3	175	1	0	0	0	0	1	0	0	0	3642	826	29	5	1355	5	CNTN3	3	74351856	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	25201877	74351856	123670574	28	95325											
OR5H14	403273	broad.mit.edu	37	chr3	97869090	97869090	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atagttcctttattaaatccCatgatctacagcctgagaaa	5	9	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:97869090C>G	uc003dsg.1	+	1	861	c.861C>G	c.(859-861)CCC>CCG	p.P287P		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TATTAAATCCCATGATCTACA	0.363													G	97869090	C	G	97869090	2	3	175	1	0	0	0	0	0	0	0	1	11160	581	21	5		5	OR5H14	3	97869090	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08	23517234	97869090	100153340	29	95326											
ZBED2	79413	broad.mit.edu	37	chr3	111312961	111312961	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccaaccagttctcctgtctCactaatctcttcctcctcct	3	18	3	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:111312961C>G	uc003dxy.2	-	2	973	c.88G>C	c.(88-90)GAG>CAG	p.E30Q	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	30							DNA binding|metal ion binding			skin(1)	1						TCTCCTGTCTCACTAATCTCT	0.512													G	111312961	C	G	111312961	3	3	175	1	0	0	0	0	1	0	0	0	17515	835	29	5	572	5	ZBED2	3	111312961	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	13443871	111312961	86709469	30	95327											
PHLDB2	90102	broad.mit.edu	37	chr3	111659435	111659435	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacattgttcagcaggctcaGagagagcaagatcattttgt	10	8	3	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:111659435G>A	uc010hqa.2	+	8	2751	c.2340G>A	c.(2338-2340)CAG>CAA	p.Q780Q	PHLDB2_uc003dyc.2_Silent_p.Q764Q|PHLDB2_uc003dyd.2_Silent_p.Q737Q|PHLDB2_uc003dyg.2_Silent_p.Q780Q|PHLDB2_uc003dyh.2_Silent_p.Q737Q|PHLDB2_uc003dyi.2_Silent_p.Q366Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	780	Potential.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AGCAGGCTCAGAGAGAGCAAG	0.348													A	111659435	G	A	111659435	2	1	175	1	0	0	0	0	0	0	0	1	11852	933	33	4		4	PHLDB2	3	111659435	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	346474	111659435	86362995	31	95328											
WDR52	55779	broad.mit.edu	37	chr3	113120574	113120574	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcagcagtgtctattgtctCaaaatcccatatcttgtaaa	5	9	4	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:113120574C>T	uc003eae.1	-	10	1229	c.1183G>A	c.(1183-1185)GAG>AAG	p.E395K		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	395	WD 4.									central_nervous_system(1)	1						TCTATTGTCTCAAAATCCCAT	0.313													T	113120574	C	T	113120574	3	4	175	1	0	0	0	0	1	0	0	0	17301	835	29	4	4500	4	WDR52	3	113120574	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	1461139	113120574	84901856	32	95329											
GOLGB1	2804	broad.mit.edu	37	chr3	121445864	121445864	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcttttctatttccatctCttcctctgtagaactcttgt	3	11	5	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:121445864C>T	uc003eei.3	-	5	553	c.427G>A	c.(427-429)GAG>AAG	p.E143K	GOLGB1_uc010hrc.2_Missense_Mutation_p.E143K|GOLGB1_uc003eej.3_Missense_Mutation_p.E104K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E104K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E143K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	143	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		ATTTCCATCTCTTCCTCTGTA	0.348													T	121445864	C	T	121445864	3	4	175	1	0	0	0	0	1	0	0	0	6565	922	32	4	9424	4	GOLGB1	3	121445864	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	8325290	121445864	76576566	33	95330											
FETUB	26998	broad.mit.edu	37	chr3	186370130	186370130	+	Frame_Shift_Del	DEL	A	A	-													aggtggaagaatcccagcagAaaaacacccccccaacagac							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr3:186370129_186370129GA>G	uc010hyq.3	+	7	1119	c.858_858GA>G	c.(856-858)cagfs	p.Q286fs	FETUB_uc011brz.2_Frame_Shift_Del_p.Q138fs|FETUB_uc003fqn.3_Frame_Shift_Del_p.Q286fs|FETUB_uc010hyr.3_Frame_Shift_Del_p.Q249fs|FETUB_uc010hys.3_Frame_Shift_Del_p.Q138fs|FETUB_uc003fqp.4_Frame_Shift_Del_p.Q221fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	286						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)		AATCCCAGCAGAAAAACACCC	0.478													-	186370130	A	-	186370130	7	5	175	1	0	1	0	1	0	0	0	0	5821	247	9	0	885	0	FETUB	3	186370130	Frame_Shift_Del	DEL	A	TCGA-CG-4449-01A-01D-1158-08	64924266	186370130	11652300	34	95331											
NDST3	9348	broad.mit.edu	37	chr4	119059215	119059215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttggtcttaggagcacGgcattccaacggacatgggc	13	10	1	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr4:119059215G>A	uc003ibx.2	+	5	1634	c.1231G>A	c.(1231-1233)GGC>AGC	p.G411S	NDST3_uc011cgf.1_Missense_Mutation_p.G330S	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	411	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TTAGGAGCACGGCATTCCAAC	0.418													A	119059215	G	A	119059215	3	1	175	1	0	0	0	0	1	0	0	0	10257	1116	39	1	1245	1	NDST3	4	119059215	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		119059215	72095061	35	95332											
ATP10B	23120	broad.mit.edu	37	chr5	160067471	160067472	+	Frame_Shift_Ins	INS	-	-	A													ccagaacatcccatacctacINSagctccaataaggcacatga							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr5:160067471_160067472insA	uc003lym.1	-	10	1843_1844	c.996_997insT	c.(994-999)GCTGTAfs	p.A332fs	ATP10B_uc003lyp.2_Frame_Shift_Ins_p.A332fs|ATP10B_uc011deg.1_Frame_Shift_Ins_p.A376fs|ATP10B_uc003lyo.2_Frame_Shift_Ins_p.A304fs	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	332_333	Helical; (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			CCCATACCTACAGCTCCAATAA	0.371													A	160067472	-	A	160067471	7	5	175	1	0	1	1	0	0	0	0	0	1117	478	17	0	3456	0	ATP10B	5	160067471	Frame_Shift_Ins	INS	-	TCGA-CG-4449-01A-01D-1158-08		160067471	20847789	36	95333	475	2									
ATP10B	23120	broad.mit.edu	37	chr5	160067472	160067473	+	Frame_Shift_Ins	INS	-	-	A													cagaacatcccatacctacaINSgctccaataaggcacatgag							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr5:160067471_160067472C>CA	uc003lym.1	-	9	1843_1844	c.996_997G>TG	c.(994-999)gctgtafs	p.A332fs	ATP10B_uc003lyp.2_Frame_Shift_Ins_p.A332fs|ATP10B_uc011deg.1_Frame_Shift_Ins_p.A376fs|ATP10B_uc003lyo.2_Frame_Shift_Ins_p.A304fs	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	332					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)			CCCATACCTACAGCTCCAATAA	0.436													A	160067473	-	A	160067472	7	5	175	1	0	1	1	0	0	0	0	0	1117	175	7	0	3457	0	ATP10B	5	160067472	Frame_Shift_Ins	INS	-	TCGA-CG-4449-01A-01D-1158-08	1	160067472	20847788	37	95334	475	2									
SCAND3	114821	broad.mit.edu	37	chr6	28543037	28543037	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgcatccaggagaaaatcCtctttcggatatcctcagtt	7	10	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr6:28543037C>G	uc003nlo.2	-	3	2063	c.1445G>C	c.(1444-1446)AGG>ACG	p.R482T		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	482	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGAGAAAATCCTCTTTCGGAT	0.423													G	28543037	C	G	28543037	3	3	175	1	0	0	0	0	1	0	0	0	13876	681	24	5	2540	5	SCAND3	6	28543037	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08		28543037	142572030	38	95335											
ITPR3	3710	broad.mit.edu	37	chr6	33652629	33652629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccaagttggtatgcgAcctcatcaccagcaccaaga	9	14	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr6:33652629A>G	uc011drk.1	+	39	5435	c.5216A>G	c.(5215-5217)GAC>GGC	p.D1739G	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1739	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TTGGTATGCGACCTCATCACC	0.627													G	33652629	A	G	33652629	3	3	175	1	0	0	0	0	1	0	0	0	7922	275	10	3	5370	3	ITPR3	6	33652629	Missense_Mutation	SNP	A	TCGA-CG-4449-01A-01D-1158-08	5109592	33652629	137462438	39	95336											
EYS	346007	broad.mit.edu	37	chr6	66063378	66063378	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccaattgccacacatattCaaattgagcaggacctttat	5	11	1	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr6:66063378C>T	uc011dxu.1	-	9	1970	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K	EYS_uc003peq.2_Missense_Mutation_p.E478K|EYS_uc003per.1_Missense_Mutation_p.E478K	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	478					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						CACACATATTCAAATTGAGCA	0.343													T	66063378	C	T	66063378	3	4	175	1	0	0	0	0	1	0	0	0	5332	835	29	4	8104	4	EYS	6	66063378	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	32410749	66063378	105051689	40	95337											
KHDC1	80759	broad.mit.edu	37	chr6	73952192	73952192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcatgaaagttttgagGcagggtccaccacggcttct	13	9	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr6:73952192G>A	uc003pgo.2	-	3	769	c.268C>T	c.(268-270)CCT>TCT	p.P90S	KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Missense_Mutation_p.P17S	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	90						integral to membrane	RNA binding			skin(1)	1						AAGTTTTGAGGCAGGGTCCAC	0.542													A	73952192	G	A	73952192	3	1	175	1	0	0	0	0	1	0	0	0	8144	1203	42	2	457	2	KHDC1	6	73952192	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	7888814	73952192	97162875	41	95338											
MRAP2	112609	broad.mit.edu	37	chr6	84798909	84798909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattttctcgccaaggcaaCgaggagtccaggtctctctt	10	11	3	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr6:84798909C>T	uc003pkg.3	+	4	517	c.327C>T	c.(325-327)AAC>AAT	p.N109N	MRAP2_uc010kbo.2_Silent_p.N23N	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	109					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			skin(2)	2						GCCAAGGCAACGAGGAGTCCA	0.498													T	84798909	C	T	84798909	2	4	175	1	0	0	0	0	0	0	0	1	9754	535	19	1		1	MRAP2	6	84798909	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08	10846717	84798909	86316158	42	95339											
GRIK2	2898	broad.mit.edu	37	chr6	102247533	102247533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttcagactgatgctgCtctaatgtatgatgctgtgc	10	8	2	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr6:102247533C>T	uc003pqp.3	+	7	1211	c.962C>T	c.(961-963)GCT>GTT	p.A321V	GRIK2_uc003pqn.2_Missense_Mutation_p.A321V|GRIK2_uc003pqo.3_Missense_Mutation_p.A321V|GRIK2_uc010kcw.2_Missense_Mutation_p.A321V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	321	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	ACTGATGCTGCTCTAATGTAT	0.448													T	102247533	C	T	102247533	3	4	175	1	0	0	0	0	1	0	0	0	6774	797	28	2	988	2	GRIK2	6	102247533	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	17448624	102247533	68867534	43	95340											
PERP	64065	broad.mit.edu	37	chr6	138428360	138428360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaggacgtctggccgtggtCgctagactgcaaccagccgc	14	14	1	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr6:138428360C>T	uc003qht.2	-	1	301	c.118G>A	c.(118-120)GAC>AAC	p.D40N		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	40					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TGGCCGTGGTCGCTAGACTGC	0.677													T	138428360	C	T	138428360	3	4	175	1	0	0	0	0	1	0	0	0	11732	884	31	1	475	1	PERP	6	138428360	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	36180827	138428360	32686707	44	95341											
C7orf70	84792	broad.mit.edu	37	chr7	6370486	6370486	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaacccacggctgtgctCggagtggctgctgaggctgg	15	11	0	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr7:6370486C>T	uc003spu.2	-	2	768	c.300G>A	c.(298-300)CCG>CCA	p.P100P		NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	hypothetical protein LOC84792	100						nucleus					0						CGGCTGTGCTCGGAGTGGCTG	0.597													T	6370486	C	T	6370486	2	4	175	1	0	0	0	0	0	0	0	1	2415	871	31	1		1	C7orf70	7	6370486	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08		6370486	152768177	45	95342											
OGDH	4967	broad.mit.edu	37	chr7	44687316	44687316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggatgctgatctggacTcctccgtgcccgctgacatt	10	12	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr7:44687316T>C	uc003tln.2	+	4	584	c.475T>C	c.(475-477)TCC>CCC	p.S159P	OGDH_uc003tlm.2_Missense_Mutation_p.S159P|OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Silent_p.T5T|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	159					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TGATCTGGACTCCTCCGTGCC	0.557													C	44687316	T	C	44687316	3	2	175	1	0	0	0	0	1	0	0	0	10839	1551	54	3	580	3	OGDH	7	44687316	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	38316830	44687316	114451347	46	95343											
PTPRZ1	5803	broad.mit.edu	37	chr7	121653684	121653684	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgacattcagactggtagTgctctgcttcctctcagccc	8	13	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr7:121653684T>C	uc003vjy.2	+	12	4979	c.4584T>C	c.(4582-4584)AGT>AGC	p.S1528S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1528	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AGACTGGTAGTGCTCTGCTTC	0.448													C	121653684	T	C	121653684	2	2	175	1	0	0	0	0	0	0	0	1	12814	1693	59	3		3	PTPRZ1	7	121653684	Silent	SNP	T	TCGA-CG-4449-01A-01D-1158-08	76966368	121653684	37484979	47	95344											
ERICH1	157697	broad.mit.edu	37	chr8	642594	642594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagagccgtcgggcagtcGgggtctcagagccagtgtct	16	10	2	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr8:642594G>A	uc003wph.2	-	3	253	c.188C>T	c.(187-189)CCG>CTG	p.P63L	ERICH1_uc011kwh.1_Missense_Mutation_p.P63L|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	63										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCGGGCAGTCGGGGTCTCAGA	0.567													A	642594	G	A	642594	3	1	175	1	0	0	0	0	1	0	0	0	5230	1116	39	1	1159	1	ERICH1	8	642594	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		642594	145721428	48	95345											
ZFHX4	79776	broad.mit.edu	37	chr8	77767078	77767078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttgatcatattgcccgcGaagtcgggctgaaaaaaagg	12	8	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr8:77767078G>A	uc003yav.2	+	10	8173	c.7786G>A	c.(7786-7788)GAA>AAA	p.E2596K	ZFHX4_uc003yau.1_Missense_Mutation_p.E2641K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2596K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2596	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATTGCCCGCGAAGTCGGGCT	0.512										HNSCC(33;0.089)			A	77767078	G	A	77767078	3	1	175	1	0	0	0	0	1	0	0	0	17632	1059	37	1	7955	1	ZFHX4	8	77767078	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	77124484	77767078	68596944	49	95346											
ZFAT	57623	broad.mit.edu	37	chr8	135614852	135614852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcgcgtctcggatgtgcttGatgaggttcttgacgtcaga	14	8	3	4			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr8:135614852G>C	uc003yup.2	-	6	1285	c.1110C>G	c.(1108-1110)ATC>ATG	p.I370M	ZFAT_uc003yun.2_Missense_Mutation_p.I358M|ZFAT_uc003yuo.2_Missense_Mutation_p.I358M|ZFAT_uc010meh.2_Missense_Mutation_p.I358M|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.I358M|ZFAT_uc010mej.2_Missense_Mutation_p.I308M|ZFAT_uc003yur.2_Missense_Mutation_p.I358M	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	370	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			GGATGTGCTTGATGAGGTTCT	0.567													C	135614852	G	C	135614852	3	2	175	1	0	0	0	0	1	0	0	0	17629	1280	45	5	2665	5	ZFAT	8	135614852	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	57847774	135614852	10749170	50	95347											
TRAPPC9	83696	broad.mit.edu	37	chr8	141415757	141415757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttagcacgtccgatctcAgtactggtgtcagggttgat	11	9	3	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr8:141415757A>G	uc003yvj.2	-	6	1061	c.927T>C	c.(925-927)ACT>ACC	p.T309T	TRAPPC9_uc003yvh.2_Silent_p.T407T|TRAPPC9_uc003yvi.1_Silent_p.T300T	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	309					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						GTCCGATCTCAGTACTGGTGT	0.408													G	141415757	A	G	141415757	2	3	175	1	0	0	0	0	0	0	0	1	16462	175	7	3		3	TRAPPC9	8	141415757	Silent	SNP	A	TCGA-CG-4449-01A-01D-1158-08	5800905	141415757	4948265	51	95348											
SLC45A4	57210	broad.mit.edu	37	chr8	142229090	142229090	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggaaggtctgggtccagtCcagcccacccagcacgtagc	12	15	1	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr8:142229090C>G	uc003ywd.1	-	4	804	c.496G>C	c.(496-498)GAC>CAC	p.D166H	SLC45A4_uc003ywc.1_Missense_Mutation_p.D166H|SLC45A4_uc010meq.1_Missense_Mutation_p.D164H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	217					transport	integral to membrane				ovary(2)	2	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)			TGGGTCCAGTCCAGCCCACCC	0.667													G	142229090	C	G	142229090	3	3	175	1	0	0	0	0	1	0	0	0	14643	855	30	5	1920	5	SLC45A4	8	142229090	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	813333	142229090	4134932	52	95349											
CPSF1	29894	broad.mit.edu	37	chr8	145621891	145621891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccctcctctgcgccGccaccttctgctttcttctt	5	21	4	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr8:145621891G>A	uc003zcj.2	-	25	2823	c.2748C>T	c.(2746-2748)GGC>GGT	p.G916G		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	916					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			skin(1)	1	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)			CCTCTGCGCCGCCACCTTCTG	0.627													A	145621891	G	A	145621891	2	1	175	1	0	0	0	0	0	0	0	1	3824	1074	38	1		1	CPSF1	8	145621891	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	3392801	145621891	742131	53	95350											
FLJ46321	389763	broad.mit.edu	37	chr9	84607898	84607898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacgtttgagcaagaaatTtgaggaaatcaatgagggtc	12	4	1	4			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr9:84607898T>G	uc004amn.2	+	4	2560	c.2513T>G	c.(2512-2514)TTT>TGT	p.F838C		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	838						integral to membrane					0						AGCAAGAAATTTGAGGAAATC	0.448													G	84607898	T	G	84607898	3	3	175	1	0	0	0	0	1	0	0	0	5932	1841	64	5	2527	5	FLJ46321	9	84607898	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08		84607898	56605533	54	95351											
FAM120A	23196	broad.mit.edu	37	chr9	96214522	96214522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccggctgcacgagtggGtcaagcggcagggcaacgag	18	11	1	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr9:96214522G>A	uc004atw.2	+	1	350	c.325G>A	c.(325-327)GTC>ATC	p.V109I	FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Missense_Mutation_p.T157I|FAM120A_uc004atv.2_Missense_Mutation_p.V109I	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	109						cytoplasm|plasma membrane	RNA binding				0						GCACGAGTGGGTCAAGCGGCA	0.667													A	96214522	G	A	96214522	3	1	175	1	0	0	0	0	1	0	0	0	5415	1261	44	4	327	4	FAM120A	9	96214522	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	11606624	96214522	44998909	55	95352											
RGS3	5998	broad.mit.edu	37	chr9	116346512	116346512	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaactcgctgcggcgccgGacgcacagcgagggcagcct	15	15	0	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr9:116346512G>A	uc004bhq.2	+	21	3029	c.2820G>A	c.(2818-2820)CGG>CGA	p.R940R	RGS3_uc004bhs.2_Silent_p.R830R|RGS3_uc004bht.2_Silent_p.R659R|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Silent_p.R261R|RGS3_uc010muz.1_Silent_p.R279R|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Silent_p.R250R|RGS3_uc004bhx.2_Silent_p.R261R|RGS3_uc004bhy.1_Silent_p.R250R|RGS3_uc004bhz.2_Silent_p.R282R	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	940					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						TGCGGCGCCGGACGCACAGCG	0.697													A	116346512	G	A	116346512	2	1	175	1	0	0	0	0	0	0	0	1	13306	1161	41	4		4	RGS3	9	116346512	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	20131990	116346512	24866919	56	95353											
DFNB31	25861	broad.mit.edu	37	chr9	117185721	117185721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgccttcatggactcaAtctcacgcctcagcaccagg	9	17	4	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr9:117185721A>G	uc004biz.3	-	7	2148	c.1499T>C	c.(1498-1500)ATT>ACT	p.I500T	DFNB31_uc004bix.2_Missense_Mutation_p.I149T|DFNB31_uc004biy.3_Missense_Mutation_p.I117T|DFNB31_uc004bja.3_Missense_Mutation_p.I500T	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	500					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CATGGACTCAATCTCACGCCT	0.622													G	117185721	A	G	117185721	3	3	175	1	0	0	0	0	1	0	0	0	4455	101	4	3	1248	3	DFNB31	9	117185721	Missense_Mutation	SNP	A	TCGA-CG-4449-01A-01D-1158-08	839209	117185721	24027710	57	95354											
C10orf18	54906	broad.mit.edu	37	chr10	5789022	5789022	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggactcatcatcagcctctaCcaccttgggaaggcagtgtt	10	12	4	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr10:5789022C>G	uc001iij.2	+	15	4263	c.3638C>G	c.(3637-3639)ACC>AGC	p.T1213S	C10orf18_uc001iik.2_Missense_Mutation_p.T57S	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1213										ovary(1)|central_nervous_system(1)	2						TCAGCCTCTACCACCTTGGGA	0.468													G	5789022	C	G	5789022	3	3	175	1	0	0	0	0	1	0	0	0	1596	507	18	5	3684	5	C10orf18	10	5789022	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08		5789022	129745725	58	95355											
USP54	159195	broad.mit.edu	37	chr10	75289641	75289641	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgtaagaaggtggcttGcttggttcatctggtataaa	12	5	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr10:75289641G>C	uc001juo.2	-	13	1874	c.1857C>G	c.(1855-1857)AGC>AGG	p.S619R	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.S619R|USP54_uc010qkl.1_Missense_Mutation_p.S619R	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	619					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					AAGGTGGCTTGCTTGGTTCAT	0.468											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	75289641	G	C	75289641	3	2	175	1	0	0	0	0	1	0	0	0	17082	1310	46	5	3237	5	USP54	10	75289641	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	69500619	75289641	60245106	59	95356											
NDST2	8509	broad.mit.edu	37	chr10	75567759	75567759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatagcggccatgggtatTatcagtcaatgtgggcatgt	13	7	2	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr10:75567759T>C	uc001jvk.2	-	3	1192	c.388A>G	c.(388-390)AAT>GAT	p.N130D	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.N7D|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.N7D	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	130	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					CCATGGGTATTATCAGTCAAT	0.527													C	75567759	T	C	75567759	3	2	175	1	0	0	0	0	1	0	0	0	10256	1754	61	3	2315	3	NDST2	10	75567759	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	278118	75567759	59966988	60	95357											
TDRD1	56165	broad.mit.edu	37	chr10	115970506	115970506	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacaactgcaaagtggCcgtaagtcagctttcttgat	9	9	3	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr10:115970506C>A	uc001lbg.1	+	12	1704	c.1551C>A	c.(1549-1551)GGC>GGA	p.G517G	TDRD1_uc001lbf.2_Silent_p.G508G|TDRD1_uc001lbh.1_Silent_p.G508G|TDRD1_uc001lbi.1_Silent_p.G508G|TDRD1_uc010qsc.1_Silent_p.G178G|TDRD1_uc001lbj.2_Silent_p.G226G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	517					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				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGCAAAGTGGCCGTAAGTCAG	0.363													A	115970506	C	A	115970506	2	1	175	1	0	0	0	0	0	0	0	1	15727	753	26	5		5	TDRD1	10	115970506	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08	40402747	115970506	19564241	61	95358											
PDZD8	118987	broad.mit.edu	37	chr10	119043857	119043857	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgattctccttctttcAaatatttgaagtgaatagta	7	6	4	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr10:119043857A>C	uc001lde.1	-	5	2586	c.2387T>G	c.(2386-2388)TTG>TGG	p.L796W		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	796					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCTTCTTTCAAATATTTGAA	0.373													C	119043857	A	C	119043857	3	2	175	1	0	0	0	0	1	0	0	0	11705	131	5	5	1081	5	PDZD8	10	119043857	Missense_Mutation	SNP	A	TCGA-CG-4449-01A-01D-1158-08	3073351	119043857	16490890	62	95359											
PPP2R2D	55844	broad.mit.edu	37	chr10	133757520	133757520	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtagaagcgagtccacggCgaatttttgcaaatgctcac	11	9	1	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr10:133757520C>T	uc001lks.2	+	4	670	c.427C>T	c.(427-429)CGA>TGA	p.R143*	PPP2R2D_uc001lkr.2_Intron|PPP2R2D_uc001lkt.2_Intron|PPP2R2D_uc009yay.2_Nonsense_Mutation_p.R11*	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	176					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GAGTCCACGGCGAATTTTTGC	0.353													T	133757520	C	T	133757520	4	4	175	1	0	0	0	0	0	1	0	0	12387	760	27	1	442	1	PPP2R2D	10	133757520	Nonsense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	14713663	133757520	1777227	63	95360											
APBB1	322	broad.mit.edu	37	chr11	6432549	6432549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgttggcattaatggccGactggctcagtgatgatgga	15	7	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr11:6432549G>A	uc001mdb.1	-	2	129	c.29C>T	c.(28-30)TCG>TTG	p.S10L	APBB1_uc001mdc.1_Missense_Mutation_p.S10L|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	10					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(2)	2		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)		ATTAATGGCCGACTGGCTCAG	0.617													A	6432549	G	A	6432549	3	1	175	1	0	0	0	0	1	0	0	0	759	1059	37	1	2155	1	APBB1	11	6432549	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		6432549	128573967	64	95361											
DAGLA	747	broad.mit.edu	37	chr11	61488300	61488300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatctggctgagcatgcGcgggggcatcctctacacgg	13	13	3	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr11:61488300G>A	uc001nsa.2	+	3	356	c.245G>A	c.(244-246)CGC>CAC	p.R82H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	82	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CTGAGCATGCGCGGGGGCATC	0.657													A	61488300	G	A	61488300	3	1	175	1	0	0	0	0	1	0	0	0	4226	1087	38	1	251	1	DAGLA	11	61488300	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	55055751	61488300	73518216	65	95362											
SLC3A2	6520	broad.mit.edu	37	chr11	62652974	62652974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgacttccttcttgccggCtcaacttctccgactctacc	5	18	4	1	rs1140538		TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr11:62652974C>T	uc001nwd.2	+	10	1564	c.1340C>T	c.(1339-1341)GCT>GTT	p.A447V	SLC3A2_uc001nwb.2_Missense_Mutation_p.A478V|SLC3A2_uc001nwc.2_Missense_Mutation_p.A448V|SLC3A2_uc001nwe.2_Missense_Mutation_p.A416V|SLC3A2_uc001nwf.2_Missense_Mutation_p.A385V|SLC3A2_uc001nwg.2_Missense_Mutation_p.A346V	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	447	Extracellular (Potential).				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				0						TTCTTGCCGGCTCAACTTCTC	0.577													T	62652974	C	T	62652974	3	4	175	1	0	0	0	0	1	0	0	0	14627	797	28	2	1478	2	SLC3A2	11	62652974	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	1164674	62652974	72353542	66	95363											
GRM5	2915	broad.mit.edu	37	chr11	88780628	88780628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactatgggcttcttggagCggaaggaagaggaggagcca	16	7	1	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr11:88780628C>T	uc001pcq.2	-	1	613	c.413G>A	c.(412-414)CGC>CAC	p.R138H	GRM5_uc009yvm.2_Missense_Mutation_p.R138H|GRM5_uc009yvn.1_Missense_Mutation_p.R138H	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	138	Extracellular (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTCTTGGAGCGGAAGGAAGA	0.502													T	88780628	C	T	88780628	3	4	175	1	0	0	0	0	1	0	0	0	6800	768	27	1	3261	1	GRM5	11	88780628	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	26127654	88780628	46225888	67	95364											
FAT3	120114	broad.mit.edu	37	chr11	92086577	92086577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgattgttacagcacgGccactgaatactgttaagaa	10	8	1	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr11:92086577G>A	uc001pdj.3	+	1	1316	c.1299G>A	c.(1297-1299)CGG>CGA	p.R433R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	433	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTACAGCACGGCCACTGAATA	0.413										TCGA Ovarian(4;0.039)			A	92086577	G	A	92086577	2	1	175	1	0	0	0	0	0	0	0	1	5691	1190	42	2		2	FAT3	11	92086577	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	3305949	92086577	42919939	68	95365											
CD4	920	broad.mit.edu	37	chr12	6923370	6923370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttgggaccaaggaaactttCccctgatcatcaagaatctt	7	10	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:6923370C>A	uc001qqv.1	+	4	522	c.277C>A	c.(277-279)CCC>ACC	p.P93T	CD4_uc009zez.1_Missense_Mutation_p.P38T|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	93	Extracellular (Potential).|Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				AGGAAACTTTCCCCTGATCAT	0.498													A	6923370	C	A	6923370	3	1	175	1	0	0	0	0	1	0	0	0	3014	855	30	5	287	5	CD4	12	6923370	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08		6923370	126928525	69	95366											
FAM90A1	55138	broad.mit.edu	37	chr12	8375060	8375060	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcctgggggctgacggcctgGagcaggccgtgggttttgga	20	9	0	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:8375060G>C	uc001qui.2	-	7	1312	c.753C>G	c.(751-753)CTC>CTG	p.L251L	FAM90A1_uc001quh.2_Silent_p.L251L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	251							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662													C	8375060	G	C	8375060	2	2	175	1	0	0	0	0	0	0	0	1	5650	1161	41	5		5	FAM90A1	12	8375060	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	1451690	8375060	125476835	70	95367											
A2ML1	144568	broad.mit.edu	37	chr12	8988261	8988261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcagtgtggaggaataTggtaggtggggaaatggaca	16	3	1	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:8988261T>C	uc001quz.3	+	6	740	c.642T>C	c.(640-642)TAT>TAC	p.Y214Y		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	58						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGGAGGAATATGGTAGGTGGG	0.418													C	8988261	T	C	8988261	2	2	175	1	0	0	0	0	0	0	0	1	5	1478	51	3		3	A2ML1	12	8988261	Silent	SNP	T	TCGA-CG-4449-01A-01D-1158-08	613201	8988261	124863634	71	95368											
KRT72	140807	broad.mit.edu	37	chr12	52992799	52992799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtagccctcataaAtgggctccaggttcttcctg	10	11	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:52992799A>G	uc001sar.2	-	2	610	c.524T>C	c.(523-525)ATT>ACT	p.I175T	KRT72_uc001saq.2_Missense_Mutation_p.I175T|KRT72_uc010sns.1_Missense_Mutation_p.I175T|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	175	Linker 1.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCCCTCATAAATGGGCTCCAG	0.557													G	52992799	A	G	52992799	3	3	175	1	0	0	0	0	1	0	0	0	8485	101	4	3	1043	3	KRT72	12	52992799	Missense_Mutation	SNP	A	TCGA-CG-4449-01A-01D-1158-08	44004538	52992799	80859096	72	95369											
HOXC10	3226	broad.mit.edu	37	chr12	54383121	54383121	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattagcaagaccattaaccTtacagacagacaagtcaaaa	6	9	1	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:54383121T>G	uc001sen.2	+	2	1018	c.920T>G	c.(919-921)CTT>CGT	p.L307R	uc001seo.2_5'Flank|MIR196A2_hsa-mir-196a-2|MI0000279_5'Flank	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	307	Homeobox.				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1						ACCATTAACCTTACAGACAGA	0.418											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	54383121	T	G	54383121	3	3	175	1	0	0	0	0	1	0	0	0	7309	1609	56	5	926	5	HOXC10	12	54383121	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	1390322	54383121	79468774	73	95370											
SLC16A7	9194	broad.mit.edu	37	chr12	60173407	60173407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattcggaagatgttaacGtcaaagtttcaaatgcacag	8	7	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:60173407G>A	uc001sqs.2	+	6	1683	c.1384G>A	c.(1384-1386)GTC>ATC	p.V462I	SLC16A7_uc001sqt.2_Missense_Mutation_p.V462I|SLC16A7_uc001squ.2_Missense_Mutation_p.V462I|SLC16A7_uc009zqi.2_Missense_Mutation_p.V363I|SLC16A7_uc010ssi.1_Missense_Mutation_p.V363I	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	462	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AGATGTTAACGTCAAAGTTTC	0.373													A	60173407	G	A	60173407	3	1	175	1	0	0	0	0	1	0	0	0	14413	1145	40	1	1398	1	SLC16A7	12	60173407	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	5790286	60173407	73678488	74	95371											
MSRB3	253827	broad.mit.edu	37	chr12	65720710	65720710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactcaggagaaagggaccGaaaggtaaggtgagctttaa	13	6	2	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:65720710G>A	uc001ssn.2	+	2	263	c.202G>A	c.(202-204)GAA>AAA	p.E68K	MSRB3_uc001ssm.2_Missense_Mutation_p.E61K|MSRB3_uc009zqp.2_Missense_Mutation_p.E61K	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	68					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GAAAGGGACCGAAAGGTAAGG	0.448													A	65720710	G	A	65720710	3	1	175	1	0	0	0	0	1	0	0	0	9889	1059	37	1	288	1	MSRB3	12	65720710	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	5547303	65720710	68131185	75	95372											
BEST3	144453	broad.mit.edu	37	chr12	70049362	70049363	+	Frame_Shift_Ins	INS	-	-	G													tccaggtgggtgaggccctgINSggggggtttcttgagggcac							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:70049361_70049362T>TG	uc001svg.3	-	9	1559_1560	c.1332_1333A>CA	c.(1330-1335)cccaggfs	p.P444fs	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Frame_Shift_Ins_p.P231fs|BEST3_uc010stm.2_Frame_Shift_Ins_p.P338fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	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)			GGTGAGGCCCTGGGGGGGTTTC	0.594													G	70049363	-	G	70049362	7	5	175	1	0	1	1	0	0	0	0	0	1406	1335	47	0	678	0	BEST3	12	70049362	Frame_Shift_Ins	INS	-	TCGA-CG-4449-01A-01D-1158-08	4328652	70049362	63802533	76	95373											
OAS3	4940	broad.mit.edu	37	chr12	113379501	113379501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatcctcagtgagatgCgggcatcgctggaatcctgg	14	10	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr12:113379501C>T	uc001tug.2	+	2	391	c.304C>T	c.(304-306)CGG>TGG	p.R102W	OAS3_uc001tue.2_Missense_Mutation_p.R102W|OAS3_uc001tuf.2_Missense_Mutation_p.R102W	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	102	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			central_nervous_system(1)	1						CAGTGAGATGCGGGCATCGCT	0.587													T	113379501	C	T	113379501	3	4	175	1	0	0	0	0	1	0	0	0	10801	759	27	1	310	1	OAS3	12	113379501	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	43330139	113379501	20472394	77	95374											
SLC46A3	283537	broad.mit.edu	37	chr13	29287281	29287281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacagcaataattagaaacGaccactcaaaacctagctct	4	12	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr13:29287281G>A	uc001usi.2	-	2	1566	c.596C>T	c.(595-597)TCG>TTG	p.S199L	SLC46A3_uc001usg.2_Missense_Mutation_p.S124L|SLC46A3_uc001usj.2_Missense_Mutation_p.S199L|SLC46A3_uc001ush.2_Missense_Mutation_p.S199L|SLC46A3_uc001usk.2_Missense_Mutation_p.S124L	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	199	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		AATTAGAAACGACCACTCAAA	0.353													A	29287281	G	A	29287281	3	1	175	1	0	0	0	0	1	0	0	0	14646	1059	37	1	819	1	SLC46A3	13	29287281	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		29287281	85882597	78	95375											
KBTBD7	84078	broad.mit.edu	37	chr13	41766772	41766775	+	Frame_Shift_Del	DEL	CTAG	CTAG	-													taatccgcctccattctcccCtagctgggttgtagaccttc							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr13:41766771_41766774CCTAG>C	uc001uxw.1	-	0	1929_1932	c.1620_1623CTAGG>G	c.(1618-1623)gctaggfs	p.A540fs	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	540							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCCATTCTCCCCTAGCTGGGTTGT	0.417													-	41766775	CTAG	-	41766772	7	5	175	1	0	1	0	1	0	0	0	0	7998	681	24	0	436	0	KBTBD7	13	41766772	Frame_Shift_Del	DEL	CTAG	TCGA-CG-4449-01A-01D-1158-08	12479491	41766772	73403106	79	95376											
NAA16	79612	broad.mit.edu	37	chr13	41947902	41947902	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgtaacgctacctctcttcAgcatctactttcaggtttgt	6	12	4	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr13:41947902A>T	uc001uyf.2	+	18	2609	c.2285A>T	c.(2284-2286)CAG>CTG	p.Q762L	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	762					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						ACCTCTCTTCAGCATCTACTT	0.363													T	41947902	A	T	41947902	3	4	175	1	0	0	0	0	1	0	0	0	10119	188	7	5	2388	5	NAA16	13	41947902	Missense_Mutation	SNP	A	TCGA-CG-4449-01A-01D-1158-08	181130	41947902	73221976	80	95377											
ERCC5	2073	broad.mit.edu	37	chr13	103468859	103468859	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgtcctcagcattctcCtcttgaagatattaaacagc	7	10	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr13:103468859C>G	uc001vpu.1	+	2	682	c.560C>G	c.(559-561)CCT>CGT	p.P187R	BIVM_uc001vps.2_Missense_Mutation_p.P187R|BIVM_uc010agc.2_5'UTR|BIVM_uc001vpt.2_Missense_Mutation_p.P187R	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGCATTCTCCTCTTGAAGAT	0.323			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	103468859	C	G	103468859	3	3	175	1	0	0	0	0	1	0	0	0	5216	681	24	5		5	ERCC5	13	103468859	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	61520957	103468859	11701019	81	95378											
COL4A1	1282	broad.mit.edu	37	chr13	110838821	110838822	+	Frame_Shift_Ins	INS	-	-	G													accatatcctggaggcccagINSgggggccggtgtcaccacga							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr13:110838820_110838821A>AG	uc001vqw.4	-	25	1930_1931	c.1808_1809T>CT	c.(1807-1809)cctfs	p.P603fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	603	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)			CTGGAGGCCCAGGGGGGCCGGT	0.599													G	110838822	-	G	110838821	7	5	175	1	0	1	1	0	0	0	0	0	3689	1000	35	0	3309	0	COL4A1	13	110838821	Frame_Shift_Ins	INS	-	TCGA-CG-4449-01A-01D-1158-08	7369962	110838821	4331057	82	95379											
ADCY4	196883	broad.mit.edu	37	chr14	24788315	24788315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctcacccactcgcaggCggaagttgttgaatgaatgc	11	11	2	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr14:24788315C>T	uc001wov.2	-	23	2951	c.2945G>A	c.(2944-2946)CGC>CAC	p.R982H	ADCY4_uc001wow.2_Missense_Mutation_p.R982H|ADCY4_uc010toh.1_Missense_Mutation_p.R668H|ADCY4_uc001wox.2_Missense_Mutation_p.R982H|ADCY4_uc001woy.2_Missense_Mutation_p.R982H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	982	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CACTCGCAGGCGGAAGTTGTT	0.567													T	24788315	C	T	24788315	3	4	175	1	0	0	0	0	1	0	0	0	296	768	27	1	300	1	ADCY4	14	24788315	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08		24788315	82561225	83	95380											
PRKD1	5587	broad.mit.edu	37	chr14	30095727	30095727	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtccagaacccagtacTtcatcaggaaaaatctgata	6	10	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr14:30095727T>C	uc001wqh.2	-	12	1942	c.1761A>G	c.(1759-1761)GAA>GAG	p.E587E		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	587	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AACCCAGTACTTCATCAGGAA	0.318													C	30095727	T	C	30095727	2	2	175	1	0	0	0	0	0	0	0	1	12518	1606	56	3		3	PRKD1	14	30095727	Silent	SNP	T	TCGA-CG-4449-01A-01D-1158-08	5307412	30095727	77253813	84	95381											
NRXN3	9369	broad.mit.edu	37	chr14	80328211	80328211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaactacatcagcaactcCgcccagagcaacggcacgct	9	16	1	1	rs150091542		TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr14:80328211C>T	uc001xun.2	+	17	3581	c.3090C>T	c.(3088-3090)TCC>TCT	p.S1030S	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.S606S|NRXN3_uc010asw.2_Silent_p.S428S|NRXN3_uc001xur.3_Silent_p.S401S	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1612	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCAGCAACTCCGCCCAGAGCA	0.527													T	80328211	C	T	80328211	2	4	175	1	0	0	0	0	0	0	0	1	10667	639	23	1		1	NRXN3	14	80328211	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08	50232484	80328211	27021329	85	95382											
RIN3	79890	broad.mit.edu	37	chr14	93125521	93125521	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcagaagcaattgtagagtCtgccttgtacaaatgtgtcc	10	8	1	2	rs138388973		TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr14:93125521C>T	uc001yap.2	+	7	2194	c.2042C>T	c.(2041-2043)TCT>TTT	p.S681F	RIN3_uc010auk.2_Missense_Mutation_p.S343F|RIN3_uc001yaq.2_Missense_Mutation_p.S606F|RIN3_uc001yar.1_Missense_Mutation_p.S343F|RIN3_uc001yas.1_Missense_Mutation_p.S343F	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	681	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				ATTGTAGAGTCTGCCTTGTAC	0.532													T	93125521	C	T	93125521	3	4	175	1	0	0	0	0	1	0	0	0	13373	913	32	4	2068	4	RIN3	14	93125521	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	12797310	93125521	14224019	86	95383											
C15orf2	23742	broad.mit.edu	37	chr15	24921084	24921084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagggccagggcgtggcGcccccgctcccctgtcccgg	15	19	0	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr15:24921084G>A	uc001ywo.2	+	1	544	c.70G>A	c.(70-72)GCC>ACC	p.A24T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	24					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGGGCGTGGCGCCCCCGCTCC	0.692													A	24921084	G	A	24921084	3	1	175	1	0	0	0	0	1	0	0	0	1784	1087	38	1	72	1	C15orf2	15	24921084	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		24921084	77610308	87	95384											
WDR72	256764	broad.mit.edu	37	chr15	53815461	53815461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcaggcatgtcctcCacgtcttggaagtttgccga	10	12	3	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr15:53815461C>T	uc002acj.2	-	19	3249	c.3207G>A	c.(3205-3207)GTG>GTA	p.V1069V	WDR72_uc010bfh.1_RNA	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1069										lung(1)|skin(1)	2				all cancers(107;0.0511)		GCATGTCCTCCACGTCTTGGA	0.358													T	53815461	C	T	53815461	2	4	175	1	0	0	0	0	0	0	0	1	17319	581	21	4		4	WDR72	15	53815461	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08	28894377	53815461	48715931	88	95385											
TPPP3	51673	broad.mit.edu	37	chr16	67424253	67424254	+	Frame_Shift_Del	DEL	CT	CT	-													cagccggtctacagcaccccCtgtttttgctttctgtttgg							TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr16:67424253_67424254delCT	uc002esz.2	-	3	1189_1190	c.354_355delAG	c.(352-357)ACAGGGfs	p.T118fs	TPPP3_uc002eta.2_Frame_Shift_Del_p.T118fs|TPPP3_uc002etb.2_Frame_Shift_Del_p.T118fs	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	118_119					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		ACAGCACCCCCTGTTTTTGCTT	0.619													-	67424254	CT	-	67424253	7	5	175	1	0	1	0	1	0	0	0	0	16412	681	24	0	179	0	TPPP3	16	67424253	Frame_Shift_Del	DEL	CT	TCGA-CG-4449-01A-01D-1158-08		67424253	22930500	89	95386											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	16	10	1	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:7577532G>A	uc002gim.2	-	7	943	c.749C>T	c.(748-750)CCC>CTC	p.P250L	TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.2_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	250	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> L (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|RP -> SS (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P250L(37)|p.P250S(12)|p.0?(7)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.P250A(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250H(1)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250T(1)|p.P250_T253delPILT(1)|p.R249_P250insR(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.P250_I251insXXXXXXX(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)|p.P250fs*14(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGTGAGGATGGGCCTCCGGTT	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577532	G	A	7577532	3	1	175	1	0	0	0	0	1	0	0	0	16378	1232	43	4	541	4	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		7577532	73617678	90	95387											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400097	13400097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaactgggcgtcttctccAtggtgatctgcccgtccagg	12	12	3	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:13400097A>G	uc002gob.1	-	2	1436	c.638T>C	c.(637-639)ATG>ACG	p.M213T		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	213	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGTCTTCTCCATGGTGATCTG	0.607													G	13400097	A	G	13400097	3	3	175	1	0	0	0	0	1	0	0	0	7365	217	8	3	586	3	HS3ST3A1	17	13400097	Missense_Mutation	SNP	A	TCGA-CG-4449-01A-01D-1158-08	5822565	13400097	67795113	91	95388											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14248383	14248383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggacgggcagatcaccaTggagaagacgcccagttact	12	12	1	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:14248383T>C	uc002goh.1	+	2	923	c.593T>C	c.(592-594)ATG>ACG	p.M198T		NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	198	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CAGATCACCATGGAGAAGACG	0.612													C	14248383	T	C	14248383	3	2	175	1	0	0	0	0	1	0	0	0	7366	1464	51	3	599	3	HS3ST3B1	17	14248383	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	848286	14248383	66946827	92	95389											
ZNF624	57547	broad.mit.edu	37	chr17	16525840	16525840	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatagagtaatacaacccTttccacattccttacaggtg	7	10	0	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:16525840T>G	uc010cpi.1	-	6	2443	c.2360A>C	c.(2359-2361)AAG>ACG	p.K787T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	787	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AATACAACCCTTTCCACATTC	0.438													G	16525840	T	G	16525840	3	3	175	1	0	0	0	0	1	0	0	0	18045	1609	56	5	241	5	ZNF624	17	16525840	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	2277457	16525840	64669370	93	95390											
RHOT1	55288	broad.mit.edu	37	chr17	30521045	30521045	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actttttatccagagagggaGacacgaaactacttggactg	10	8	0	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:30521045G>C	uc002hgz.2	+	11	1027	c.788G>C	c.(787-789)AGA>ACA	p.R263T	RHOT1_uc002hgw.2_Missense_Mutation_p.R263T|RHOT1_uc002hgy.2_Missense_Mutation_p.R263T|RHOT1_uc002hha.2_Missense_Mutation_p.R136T|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.R136T|RHOT1_uc010wby.1_Missense_Mutation_p.R263T|RHOT1_uc002hhb.2_Missense_Mutation_p.R242T|RHOT1_uc002hgv.2_Missense_Mutation_p.R263T	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN	ras homolog gene family, member T1 isoform 3	263	Mitochondrial intermembrane (Potential).				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			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CAGAGAGGGAGACACGAAACT	0.363													C	30521045	G	C	30521045	3	2	175	1	0	0	0	0	1	0	0	0	13343	942	33	5	830	5	RHOT1	17	30521045	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	13995205	30521045	50674165	94	95391											
C17orf102	400591	broad.mit.edu	37	chr17	32906083	32906083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgaactctgggggtgggggTagggtgccccctacccgcgc	18	13	1	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:32906083T>C	uc002hie.1	-	1	306	c.217A>G	c.(217-219)ACC>GCC	p.T73A	TMEM132E_uc002hif.2_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	hypothetical protein LOC400591	73										ovary(1)	1						GGGGTGGGGGTAGGGTGCCCC	0.682													C	32906083	T	C	32906083	3	2	175	1	0	0	0	0	1	0	0	0	1849	1638	57	3	294	3	C17orf102	17	32906083	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	2385038	32906083	48289127	95	95392											
AARSD1	80755	broad.mit.edu	37	chr17	41102638	41102638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcactctgcgtgctgatgTagtcctggagaagcgcctgc	13	11	1	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:41102638T>C	uc002icc.2	-	12	1214	c.1211A>G	c.(1210-1212)TAC>TGC	p.Y404C	AARSD1_uc002icd.2_Missense_Mutation_p.Y517C|AARSD1_uc002ice.2_Missense_Mutation_p.Y487C|AARSD1_uc002icf.2_Missense_Mutation_p.Y578C|AARSD1_uc010whg.1_Missense_Mutation_p.Y578C	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	404					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGTGCTGATGTAGTCCTGGAG	0.537													C	41102638	T	C	41102638	3	2	175	1	0	0	0	0	1	0	0	0	21	1638	57	3	31	3	AARSD1	17	41102638	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	8196555	41102638	40092572	96	95393											
BRCA1	672	broad.mit.edu	37	chr17	41245963	41245963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctgatttatcatttcagGagtcttttgaactgccaaat	6	9	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:41245963G>A	uc002icq.2	-	10	1817	c.1585C>T	c.(1585-1587)CCT>TCT	p.P529S	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.P458S|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.P482S|BRCA1_uc002ict.2_Missense_Mutation_p.P529S|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.P529S|BRCA1_uc002ide.1_Missense_Mutation_p.P360S|BRCA1_uc010cyy.1_Missense_Mutation_p.P529S|BRCA1_uc010whs.1_Missense_Mutation_p.P529S|BRCA1_uc010cyz.2_Missense_Mutation_p.P482S|BRCA1_uc010cza.2_Missense_Mutation_p.P503S|BRCA1_uc010wht.1_Missense_Mutation_p.P233S	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	529					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATCATTTCAGGAGTCTTTTGA	0.378			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41245963	G	A	41245963	3	1	175	1	0	0	0	0	1	0	0	0	1498	1174	41	4	4132	4	BRCA1	17	41245963	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	143325	41245963	39949247	97	95394											
USP32	84669	broad.mit.edu	37	chr17	58299833	58299833	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctccacacaggttctggGaccatttcatagtctcttcc	7	14	4	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:58299833G>A	uc002iyo.1	-	15	1972	c.1686C>T	c.(1684-1686)GTC>GTT	p.V562V	USP32_uc002iyn.1_Silent_p.V232V	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	562	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAGGTTCTGGGACCATTTCAT	0.413													A	58299833	G	A	58299833	2	1	175	1	0	0	0	0	0	0	0	1	17060	1161	41	4		4	USP32	17	58299833	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	17053870	58299833	22895377	98	95395											
C17orf77	146723	broad.mit.edu	37	chr17	72588276	72588276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagccgctgtcattccagTgccttaaagctccagccaca	8	16	1	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr17:72588276T>C	uc002jla.1	+	3	453	c.91T>C	c.(91-93)TGC>CGC	p.C31R	CD300LD_uc002jkz.2_Intron	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	31						extracellular region					0						GTCATTCCAGTGCCTTAAAGC	0.547													C	72588276	T	C	72588276	3	2	175	1	0	0	0	0	1	0	0	0	1882	1696	59	3	93	3	C17orf77	17	72588276	Missense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	14288443	72588276	8606934	99	95396											
OSBPL1A	114876	broad.mit.edu	37	chr18	21894248	21894248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctattcttaggaacccGgaagccatgaatggtgtcat	11	8	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr18:21894248G>A	uc002kve.2	-	12	1108	c.934C>T	c.(934-936)CGG>TGG	p.R312W	OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.R92W	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	312	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	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)					TTAGGAACCCGGAAGCCATGA	0.363													A	21894248	G	A	21894248	3	1	175	1	0	0	0	0	1	0	0	0	11277	1115	39	1	1986	1	OSBPL1A	18	21894248	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		21894248	56183000	100	95397											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566902	45566902	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggccttctctgtgagatggtCtgtcttggaagggctttggt	15	7	3	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr18:45566902C>G	uc002lda.2	-	1	593	c.577G>C	c.(577-579)GAC>CAC	p.D193H	ZBTB7C_uc002ldb.2_Missense_Mutation_p.D193H|ZBTB7C_uc010dnu.2_Missense_Mutation_p.D202H|ZBTB7C_uc010dnv.2_Missense_Mutation_p.D215H|ZBTB7C_uc010dnw.2_Missense_Mutation_p.D193H|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dny.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D215H|ZBTB7C_uc010dob.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doc.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dod.1_Missense_Mutation_p.D215H|ZBTB7C_uc010doe.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dof.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dog.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doh.1_Missense_Mutation_p.D202H|ZBTB7C_uc010doi.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doj.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dok.1_Missense_Mutation_p.D242H|ZBTB7C_uc010dol.1_Missense_Mutation_p.D202H|ZBTB7C_uc010doa.1_Missense_Mutation_p.D215H|ZBTB7C_uc010don.1_Missense_Mutation_p.D201H|ZBTB7C_uc010doo.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dop.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doq.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dor.1_Missense_Mutation_p.D215H|ZBTB7C_uc010dos.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dot.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dou.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dom.1_Missense_Mutation_p.D202H	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	193						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GTGAGATGGTCTGTCTTGGAA	0.537													G	45566902	C	G	45566902	3	3	175	1	0	0	0	0	1	0	0	0	17552	913	32	5	1290	5	ZBTB7C	18	45566902	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	23672654	45566902	32510346	101	95398											
ATP8B1	5205	broad.mit.edu	37	chr18	55362738	55362738	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actggtctgtgatttcaagtGacatcttaaattttaaattg	7	5	3	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr18:55362738G>C	uc002lgw.2	-	8	725	c.725C>G	c.(724-726)TCA>TGA	p.S242*	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	242	Cytoplasmic (Potential).				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(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GATTTCAAGTGACATCTTAAA	0.308									Byler_disease				C	55362738	G	C	55362738	4	2	175	1	0	0	0	0	0	1	0	0	1194	1294	45	5	3110	5	ATP8B1	18	55362738	Nonsense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	9795836	55362738	22714510	102	95399											
ZNF532	55205	broad.mit.edu	37	chr18	56646352	56646352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcccacagcctgtgccgGcacaaccggatcaagcacaa	9	16	1	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr18:56646352G>A	uc002lho.2	+	9	3763	c.3216G>A	c.(3214-3216)CGG>CGA	p.R1072R	ZNF532_uc002lhp.2_Silent_p.R1070R|ZNF532_uc010xeg.1_Silent_p.R1070R|ZNF532_uc002lhr.2_Silent_p.R1070R|ZNF532_uc002lhs.2_Silent_p.R1070R|ZNF532_uc010xeh.1_Silent_p.R164R	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1072	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GCCTGTGCCGGCACAACCGGA	0.532													A	56646352	G	A	56646352	2	1	175	1	0	0	0	0	0	0	0	1	17969	1190	42	2		2	ZNF532	18	56646352	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08	1283614	56646352	21430896	103	95400											
RDH8	50700	broad.mit.edu	37	chr19	10129585	10129585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgtcatgggcctgcaGggtgagctgtggggacccaa	17	9	1	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr19:10129585G>A	uc002mmr.2	+	3	690	c.441G>A	c.(439-441)CAG>CAA	p.Q147Q		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	147	Helical; (Potential).				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			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGGGCCTGCAGGGTGAGCTGT	0.552													A	10129585	G	A	10129585	2	1	175	1	0	0	0	0	0	0	0	1	13196	1014	35	4		4	RDH8	19	10129585	Silent	SNP	G	TCGA-CG-4449-01A-01D-1158-08		10129585	48999398	104	95401											
DNMT1	1786	broad.mit.edu	37	chr19	10273405	10273405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttcaggttctttttcttCgggcctccgtttggcagctc	9	11	3	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr19:10273405C>T	uc002mng.2	-	12	1078	c.898G>A	c.(898-900)GAA>AAA	p.E300K	DNMT1_uc010xlc.1_Missense_Mutation_p.E316K|DNMT1_uc002mnh.2_Missense_Mutation_p.E195K|DNMT1_uc010xld.1_Missense_Mutation_p.E300K|DNMT1_uc002mnk.2_RNA	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	300	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			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			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)	TCTTTTTCTTCGGGCCTCCGT	0.408													T	10273405	C	T	10273405	3	4	175	1	0	0	0	0	1	0	0	0	4675	893	31	1	4068	1	DNMT1	19	10273405	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	143820	10273405	48855578	105	95402											
CACNA1A	773	broad.mit.edu	37	chr19	13411396	13411396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttggccgcggacagaggActcacttctgccacctcctt	10	14	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr19:13411396A>G	uc010dze.2	-	18	2486	c.2250T>C	c.(2248-2250)AGT>AGC	p.S750S	CACNA1A_uc010dzc.2_Silent_p.S275S|CACNA1A_uc002mwy.3_Silent_p.S749S|CACNA1A_uc010xne.1_Silent_p.S278S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	750	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGGACAGAGGACTCACTTCTG	0.527													G	13411396	A	G	13411396	2	3	175	1	0	0	0	0	0	0	0	1	2538	272	10	3		3	CACNA1A	19	13411396	Silent	SNP	A	TCGA-CG-4449-01A-01D-1158-08	3137991	13411396	45717587	106	95403											
WIZ	58525	broad.mit.edu	37	chr19	15559049	15559049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttctcccttggcgccgGgccaggcagtctctctgggc	14	14	3	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr19:15559049G>A	uc002nbb.3	-	2	284	c.70C>T	c.(70-72)CCG>TCG	p.P24S	MIR1470_hsa-mir-1470|MI0007075_5'Flank	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1105	Pro-rich.					nucleus	zinc ion binding				0						CTTGGCGCCGGGCCAGGCAGT	0.647													A	15559049	G	A	15559049	3	1	175	1	0	0	0	0	1	0	0	0	17372	1232	43	4	2342	4	WIZ	19	15559049	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	2147653	15559049	43569934	107	95404											
ZNF599	148103	broad.mit.edu	37	chr19	35250430	35250430	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaggccttcccacattcttTgcactcaaagggcttctctc	6	14	3	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr19:35250430T>A	uc010edn.1	-	4	1664	c.1276A>T	c.(1276-1278)AAA>TAA	p.K426*	ZNF599_uc010edm.1_Nonsense_Mutation_p.K389*	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	426	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	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)			CCACATTCTTTGCACTCAAAG	0.473													A	35250430	T	A	35250430	4	1	175	1	0	0	0	0	0	1	0	0	18026	1821	63	5	494	5	ZNF599	19	35250430	Nonsense_Mutation	SNP	T	TCGA-CG-4449-01A-01D-1158-08	19691381	35250430	23878553	108	95405											
HSPA12B	116835	broad.mit.edu	37	chr20	3726571	3726571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgtaccaggagctgaggGagcagagcccatcgctgcca	13	13	0	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr20:3726571G>A	uc002wjd.2	+	7	671	c.568G>A	c.(568-570)GAG>AAG	p.E190K	HSPA12B_uc010zqi.1_Missense_Mutation_p.E189K|HSPA12B_uc002wje.2_Missense_Mutation_p.E103K|HSPA12B_uc010zqj.1_Missense_Mutation_p.E24K	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	190							ATP binding				0						GGAGCTGAGGGAGCAGAGCCC	0.602													A	3726571	G	A	3726571	3	1	175	1	0	0	0	0	1	0	0	0	7405	1175	41	4	590	4	HSPA12B	20	3726571	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08		3726571	59298949	109	95406											
BCL2L13	23786	broad.mit.edu	37	chr22	18209612	18209612	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcttacctgtgtcactgtCagctagccagagttggcaca	11	11	2	1			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr22:18209612C>T	uc002zmw.2	+	7	988	c.770C>T	c.(769-771)TCA>TTA	p.S257L	BCL2L13_uc002zmx.2_Missense_Mutation_p.S95L|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.S95L|BCL2L13_uc011agk.1_Missense_Mutation_p.S133L|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Missense_Mutation_p.S95L|BCL2L13_uc002zna.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	257					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		GTGTCACTGTCAGCTAGCCAG	0.527													T	18209612	C	T	18209612	3	4	175	1	0	0	0	0	1	0	0	0	1371	838	29	4	792	4	BCL2L13	22	18209612	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08		18209612	33094954	110	95407											
BCL2L13	23786	broad.mit.edu	37	chr22	18209747	18209747	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agagaagagtgagaacaactCctctaattctgacattgtgc	9	8	2	4			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr22:18209747C>G	uc002zmw.2	+	7	1123	c.905C>G	c.(904-906)TCC>TGC	p.S302C	BCL2L13_uc002zmx.2_Missense_Mutation_p.S140C|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.S140C|BCL2L13_uc011agk.1_Missense_Mutation_p.S178C|BCL2L13_uc010gqz.2_Missense_Mutation_p.S22C|BCL2L13_uc002zmz.2_Missense_Mutation_p.S140C|BCL2L13_uc002zna.2_Missense_Mutation_p.S22C	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	302					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		GAGAACAACTCCTCTAATTCT	0.537													G	18209747	C	G	18209747	3	3	175	1	0	0	0	0	1	0	0	0	1371	855	30	5	927	5	BCL2L13	22	18209747	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08	135	18209747	33094819	111	95408											
SGSM1	129049	broad.mit.edu	37	chr22	25313668	25313668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgcatcagaacggggActatactcacttctacttct	8	11	4	2			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr22:25313668A>G	uc003abg.2	+	24	3294	c.3137A>G	c.(3136-3138)GAC>GGC	p.D1046G	SGSM1_uc003abh.2_Missense_Mutation_p.D985G|SGSM1_uc010guu.1_Missense_Mutation_p.D991G|SGSM1_uc003abj.2_Missense_Mutation_p.D930G|SGSM1_uc003abi.1_Missense_Mutation_p.D966G	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	1046	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						CAGAACGGGGACTATACTCAC	0.502													G	25313668	A	G	25313668	3	3	175	1	0	0	0	0	1	0	0	0	14222	275	10	3	3231	3	SGSM1	22	25313668	Missense_Mutation	SNP	A	TCGA-CG-4449-01A-01D-1158-08	7103921	25313668	25990898	112	95409											
ZNRF3	84133	broad.mit.edu	37	chr22	29445281	29445281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggtgcattaccccggccGcgtgcacaggaccaacgcca	12	17	0	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chr22:29445281G>A	uc003aeg.2	+	8	977	c.812G>A	c.(811-813)CGC>CAC	p.R271H	ZNRF3_uc003aeh.1_Missense_Mutation_p.R271H	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	371	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						TACCCCGGCCGCGTGCACAGG	0.642													A	29445281	G	A	29445281	3	1	175	1	0	0	0	0	1	0	0	0	18210	1087	38	1	838	1	ZNRF3	22	29445281	Missense_Mutation	SNP	G	TCGA-CG-4449-01A-01D-1158-08	4131613	29445281	21859285	113	95410											
HUWE1	10075	broad.mit.edu	37	chrX	53564520	53564520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgttcctgggcccttacaatCgattcttcatttcttcgggg	9	12	3	0			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chrX:53564520C>T	uc004dsp.2	-	78	12536	c.12134G>A	c.(12133-12135)CGA>CAA	p.R4045Q	HUWE1_uc004dsn.2_Missense_Mutation_p.R2853Q|HUWE1_uc004dsq.1_Missense_Mutation_p.R345Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4045	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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCCTTACAATCGATTCTTCAT	0.537													T	53564520	C	T	53564520	3	4	175	1	0	0	0	0	1	0	0	0	7461	884	31	1	1018	1	HUWE1	23	53564520	Missense_Mutation	SNP	C	TCGA-CG-4449-01A-01D-1158-08		53564520	101706040	114	95411											
NRK	203447	broad.mit.edu	37	chrX	105197150	105197150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagctgagattcctgtgCacccggggtgacaaggtata	13	8	0	3			TCGA-CG-4449-01A-01D-1158-08	TCGA-CG-4449-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa76e231-afc1-490d-8463-4438ee64a36f	1318498f-4165-4777-b997-e3ec9346d8ef	g.chrX:105197150C>T	uc004emd.2	+	28	4941	c.4638C>T	c.(4636-4638)TGC>TGT	p.C1546C	NRK_uc011msi.1_Silent_p.C127C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1546	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GATTCCTGTGCACCCGGGGTG	0.463										HNSCC(51;0.14)			T	105197150	C	T	105197150	2	4	175	1	0	0	0	0	0	0	0	1	10655	718	25	2		2	NRK	23	105197150	Silent	SNP	C	TCGA-CG-4449-01A-01D-1158-08	51632630	105197150	50073410	115	95412											
TAS1R3	83756	broad.mit.edu	37	chr1	1267882	1267882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcacggtgcttggctTcctccagaggggtgcccagc	16	12	0	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr1:1267882T>C	uc010nyk.1	+	3	971	c.971T>C	c.(970-972)TTC>TCC	p.F324S		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	324	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	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)	GTGCTTGGCTTCCTCCAGAGG	0.692													C	1267882	T	C	1267882	3	2	176	1	0	0	0	0	1	0	0	0	15561	1783	62	3	981	3	TAS1R3	1	1267882	Missense_Mutation	SNP	T	TCGA-CG-4455-01A-01D-1158-08		1267882	247982739	1	95413											
UBR4	23352	broad.mit.edu	37	chr1	19446105	19446105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctagtaggtccacaaaCtgggcagccttacgaccata	8	12	0	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr1:19446105C>T	uc001bbi.2	-	70	10405	c.10401G>A	c.(10399-10401)CAG>CAA	p.Q3467Q	UBR4_uc001bbj.1_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3467					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		GGTCCACAAACTGGGCAGCCT	0.468													T	19446105	C	T	19446105	2	4	176	1	0	0	0	0	0	0	0	1	16901	564	20	4		4	UBR4	1	19446105	Silent	SNP	C	TCGA-CG-4455-01A-01D-1158-08	18178223	19446105	229804516	2	95414											
UBR4	23352	broad.mit.edu	37	chr1	19523680	19523680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgtcacatcttgtagacGagaaggattgagaggttcca	12	7	2	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr1:19523680G>A	uc001bbi.2	-	8	977	c.973C>T	c.(973-975)CGT>TGT	p.R325C		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	325					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		TCTTGTAGACGAGAAGGATTG	0.408													A	19523680	G	A	19523680	3	1	176	1	0	0	0	0	1	0	0	0	16901	1058	37	1	14974	1	UBR4	1	19523680	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	77575	19523680	229726941	3	95415											
PEAR1	375033	broad.mit.edu	37	chr1	156883511	156883511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctggaccgaagctacaGctatagctacagcaatggcc	10	14	0	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr1:156883511G>A	uc001fqj.1	+	21	2788	c.2672G>A	c.(2671-2673)AGC>AAC	p.S891N	PEAR1_uc001fqk.1_Missense_Mutation_p.S516N	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	891	Pro-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGAAGCTACAGCTATAGCTAC	0.597													A	156883511	G	A	156883511	3	1	176	1	0	0	0	0	1	0	0	0	11712	971	34	2	2750	2	PEAR1	1	156883511	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	137359831	156883511	92367110	4	95416											
ASTN1	460	broad.mit.edu	37	chr1	177001708	177001708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccctctgcagatggtggCgcagatcagtgatgtcatac	11	11	3	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr1:177001708C>T	uc001glc.2	-	3	961	c.749G>A	c.(748-750)CGC>CAC	p.R250H	ASTN1_uc001glb.1_Missense_Mutation_p.R250H|ASTN1_uc001gld.1_Missense_Mutation_p.R250H|ASTN1_uc009wwx.1_Missense_Mutation_p.R250H|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	250					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CAGATGGTGGCGCAGATCAGT	0.617													T	177001708	C	T	177001708	3	4	176	1	0	0	0	0	1	0	0	0	1064	768	27	1	3223	1	ASTN1	1	177001708	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08	20118197	177001708	72248913	5	95417											
OR2B11	127623	broad.mit.edu	37	chr1	247614356	247614356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagcctccagatcctgGccagaagtctcctcagagcc	9	16	2	4			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr1:247614356G>A	uc010pyx.1	-	1	929	c.929C>T	c.(928-930)GCC>GTC	p.A310V		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	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)			CCAGATCCTGGCCAGAAGTCT	0.448													A	247614356	G	A	247614356	3	1	176	1	0	0	0	0	1	0	0	0	10988	1203	42	2	27	2	OR2B11	1	247614356	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	70612648	247614356	1636265	6	95418											
DPP10	57628	broad.mit.edu	37	chr2	116572421	116572421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ataagttccatattgactggGattccgtactcattgacatg	8	8	1	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr2:116572421G>T	uc002tla.1	+	20	2210	c.1753G>T	c.(1753-1755)GAT>TAT	p.D585Y	DPP10_uc002tlb.1_Missense_Mutation_p.D535Y|DPP10_uc002tlc.1_Missense_Mutation_p.D581Y|DPP10_uc002tle.2_Missense_Mutation_p.D589Y|DPP10_uc002tlf.1_Missense_Mutation_p.D578Y	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	585	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TATTGACTGGGATTCCGTACT	0.423													T	116572421	G	T	116572421	3	4	176	1	0	0	0	0	1	0	0	0	4727	1174	41	5	2002	5	DPP10	2	116572421	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08		116572421	126626952	7	95419											
ZAK	51776	broad.mit.edu	37	chr2	174074513	174074513	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtccatgtcaaatgacacGagccttcctgacaagtgtaa	9	10	1	2	rs145549000		TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr2:174074513G>A	uc002uhz.2	+	10	1001	c.801G>A	c.(799-801)ACG>ACA	p.T267T	ZAK_uc002uhx.2_Silent_p.T267T|ZAK_uc002uhy.2_Silent_p.T267T|ZAK_uc010zei.1_Silent_p.T166T|ZAK_uc002uia.1_Silent_p.T267T|uc002uib.2_RNA	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	267	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CAAATGACACGAGCCTTCCTG	0.468													A	174074513	G	A	174074513	2	1	176	1	0	0	0	0	0	0	0	1	17509	1045	37	1		1	ZAK	2	174074513	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08	57502092	174074513	69124860	8	95420											
BARD1	580	broad.mit.edu	37	chr2	215646142	215646142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcacaacatatctgactttCttacttcgagggctaaacca	5	12	3	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr2:215646142C>T	uc002veu.2	-	4	591	c.456G>A	c.(454-456)AAG>AAA	p.K152K	BARD1_uc010zjm.1_Silent_p.K8K	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	152					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			lung(2)	2		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)		ATCTGACTTTCTTACTTCGAG	0.358									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	215646142	C	T	215646142	2	4	176	1	0	0	0	0	0	0	0	1	1312	912	32	4		4	BARD1	2	215646142	Silent	SNP	C	TCGA-CG-4455-01A-01D-1158-08	41571629	215646142	27553231	9	95421											
TTLL4	9654	broad.mit.edu	37	chr2	219609922	219609922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctctttcccaacgttccCcctaccatctattttggcac	4	16	2	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr2:219609922C>T	uc002viy.2	+	6	2122	c.1752C>T	c.(1750-1752)CCC>CCT	p.P584P	TTLL4_uc010zkl.1_Silent_p.P419P|TTLL4_uc010fvx.2_Silent_p.P584P|TTLL4_uc010zkm.1_5'Flank	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	584					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		CCAACGTTCCCCCTACCATCT	0.502													T	219609922	C	T	219609922	2	4	176	1	0	0	0	0	0	0	0	1	16726	610	22	4		4	TTLL4	2	219609922	Silent	SNP	C	TCGA-CG-4455-01A-01D-1158-08	3963780	219609922	23589451	10	95422											
RBMS3	27303	broad.mit.edu	37	chr3	29781274	29781274	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccatttctatggatgagcagGagcttgagaatatgctgaaa	11	6	1	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr3:29781274G>C	uc003cel.2	+	5	693	c.463G>C	c.(463-465)GAG>CAG	p.E155Q	RBMS3_uc003cek.2_Missense_Mutation_p.E155Q|RBMS3_uc010hfq.2_Missense_Mutation_p.E155Q|RBMS3_uc003cem.2_Missense_Mutation_p.E154Q|RBMS3_uc010hfr.2_Missense_Mutation_p.E155Q	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	155	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				GGATGAGCAGGAGCTTGAGAA	0.418													C	29781274	G	C	29781274	3	2	176	1	0	0	0	0	1	0	0	0	13150	1175	41	5	481	5	RBMS3	3	29781274	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08		29781274	168241156	11	95423											
ZBTB11	27107	broad.mit.edu	37	chr3	101384055	101384055	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcctcagctgatataTcatttcccataccactatcc	2	13	2	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr3:101384055T>A	uc003dve.3	-	4	1606	c.1376A>T	c.(1375-1377)GAT>GTT	p.D459V		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AGCTGATATATCATTTCCCAT	0.363													A	101384055	T	A	101384055	3	1	176	1	0	0	0	0	1	0	0	0	17521	1435	50	5	1817	5	ZBTB11	3	101384055	Missense_Mutation	SNP	T	TCGA-CG-4455-01A-01D-1158-08	71602781	101384055	96638375	12	95424											
ATR	545	broad.mit.edu	37	chr3	142215233	142215233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccactttgccctttccacGtacagttcagcgagtcgtga	9	13	1	1	rs112018640	byFrequency	TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr3:142215233G>A	uc003eux.3	-	34	5990	c.5868C>T	c.(5866-5868)TAC>TAT	p.Y1956Y		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1956	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.Y1956Y(2)		lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CCCTTTCCACGTACAGTTCAG	0.418								Other_conserved_DNA_damage_response_genes					A	142215233	G	A	142215233	2	1	176	1	0	0	0	0	0	0	0	1	1204	1140	40	1		1	ATR	3	142215233	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08	40831178	142215233	55807197	13	95425											
DEFB131	644414	broad.mit.edu	37	chr4	9452104	9452104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagaagcttcatttctaAtgatgaatgtccttcagaat	7	8	3	4			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr4:9452104A>G	uc011bwt.1	+	2	77	c.77A>G	c.(76-78)AAT>AGT	p.N26S		NM_001040448	NP_001035538	P59861	DB131_HUMAN	defensin, beta 131 precursor	26					defense response to bacterium	extracellular region					0						TTCATTTCTAATGATGAATGT	0.308													G	9452104	A	G	9452104	3	3	176	1	0	0	0	0	1	0	0	0	4416	101	4	3	83	3	DEFB131	4	9452104	Missense_Mutation	SNP	A	TCGA-CG-4455-01A-01D-1158-08		9452104	181702172	14	95426											
JARID2	3720	broad.mit.edu	37	chr6	15512493	15512493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcacaggaccgtgcagCagagtggccagtttgtcgtc	15	10	0	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr6:15512493C>A	uc003nbj.2	+	14	3251	c.3007C>A	c.(3007-3009)CAG>AAG	p.Q1003K	JARID2_uc011div.1_Missense_Mutation_p.Q831K	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1003	JmjC.				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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GACCGTGCAGCAGAGTGGCCA	0.612													A	15512493	C	A	15512493	3	1	176	1	0	0	0	0	1	0	0	0	7945	711	25	5	3061	5	JARID2	6	15512493	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08		15512493	155602574	15	95427											
VARS2	57176	broad.mit.edu	37	chr6	30890739	30890739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgagattcacactctgctCccatggagttcagggtaagc	10	12	3	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr6:30890739C>T	uc003nsc.1	+	22	2803	c.2171C>T	c.(2170-2172)TCC>TTC	p.S724F	VARS2_uc011dmx.1_Missense_Mutation_p.S724F|VARS2_uc011dmy.1_Missense_Mutation_p.S584F|VARS2_uc011dmz.1_Missense_Mutation_p.S754F|VARS2_uc011dna.1_Missense_Mutation_p.S722F|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.S162F|VARS2_uc010jsg.1_Missense_Mutation_p.S96F|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	724					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						ACACTCTGCTCCCATGGAGTT	0.612													T	30890739	C	T	30890739	3	4	176	1	0	0	0	0	1	0	0	0	17121	855	30	4	2351	4	VARS2	6	30890739	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08	15378246	30890739	140224328	16	95428											
FYN	2534	broad.mit.edu	37	chr6	112029214	112029214	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcgggcttcccaccaAtctccttccctgtaaataaa	7	13	1	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr6:112029214A>G	uc003pvj.2	-	5	694	c.354T>C	c.(352-354)GAT>GAC	p.D118D	FYN_uc003pvi.2_Silent_p.D118D|FYN_uc003pvk.2_Silent_p.D118D|FYN_uc003pvh.2_Silent_p.D118D	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	118	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			lung(5)|central_nervous_system(1)|skin(1)	7		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)	CTTCCCACCAATCTCCTTCCC	0.428													G	112029214	A	G	112029214	2	3	176	1	0	0	0	0	0	0	0	1	6126	98	4	3		3	FYN	6	112029214	Silent	SNP	A	TCGA-CG-4455-01A-01D-1158-08	81138475	112029214	59085853	17	95429											
DNAH11	8701	broad.mit.edu	37	chr7	21939016	21939016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacaagaccttacccttcCggctgtcgtgtggctctccg	10	15	1	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:21939016C>T	uc003svc.2	+	81	13164	c.13133C>T	c.(13132-13134)CCG>CTG	p.P4378L		NM_003777	NP_003768	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			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTTACCCTTCCGGCTGTCGTG	0.537									Kartagener_syndrome				T	21939016	C	T	21939016	3	4	176	1	0	0	0	0	1	0	0	0	4599	652	23	1	13452	1	DNAH11	7	21939016	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08		21939016	137199647	18	95430											
DDC	1644	broad.mit.edu	37	chr7	50607687	50607687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtacgagctggcagtggGgaagtaggcgaagaagtagg	20	5	0	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:50607687G>A	uc003tpf.3	-	3	327	c.241C>T	c.(241-243)CCC>TCC	p.P81S	DDC_uc010kza.2_Missense_Mutation_p.P81S|DDC_uc003tpg.3_Missense_Mutation_p.P81S	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	81	1.|2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	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)	CTGGCAGTGGGGAAGTAGGCG	0.637													A	50607687	G	A	50607687	3	1	176	1	0	0	0	0	1	0	0	0	4325	1232	43	4	1249	4	DDC	7	50607687	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	28668671	50607687	108530976	19	95431											
MAGI2	9863	broad.mit.edu	37	chr7	78256458	78256458	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcataagtcccactttctagGagagcaccacttttctccaa	5	13	3	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:78256458G>A	uc003ugx.2	-	3	770	c.516C>T	c.(514-516)CTC>CTT	p.L172L	MAGI2_uc003ugy.2_Silent_p.L172L|MAGI2_uc011kgr.1_5'UTR|MAGI2_uc011kgs.1_Silent_p.L9L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	172	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CACTTTCTAGGAGAGCACCAC	0.443													A	78256458	G	A	78256458	2	1	176	1	0	0	0	0	0	0	0	1	9191	1161	41	4		4	MAGI2	7	78256458	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08	27648771	78256458	80882205	20	95432											
PCLO	27445	broad.mit.edu	37	chr7	82579972	82579972	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actggtagatctgccgaatcTtttgctcctccagctgctgg	10	12	2	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:82579972T>G	uc003uhx.2	-	6	10221	c.9932A>C	c.(9931-9933)AAG>ACG	p.K3311T	PCLO_uc003uhv.2_Missense_Mutation_p.K3311T|PCLO_uc010lec.2_Missense_Mutation_p.K276T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3242	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGCCGAATCTTTTGCTCCTC	0.488													G	82579972	T	G	82579972	3	3	176	1	0	0	0	0	1	0	0	0	11583	1609	56	5	5593	5	PCLO	7	82579972	Missense_Mutation	SNP	T	TCGA-CG-4455-01A-01D-1158-08	4323514	82579972	76558691	21	95433											
SLC25A40	55972	broad.mit.edu	37	chr7	87477182	87477182	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actcacatctggctacaattCcagcaacaattggtatgcag	7	11	2	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:87477182C>G	uc003uje.2	-	7	794	c.443G>C	c.(442-444)GGA>GCA	p.G148A		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	mitochondrial carrier family protein	148	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)	1	Esophageal squamous(14;0.00202)					GGCTACAATTCCAGCAACAAT	0.318													G	87477182	C	G	87477182	3	3	176	1	0	0	0	0	1	0	0	0	14505	855	30	5	597	5	SLC25A40	7	87477182	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08	4897210	87477182	71661481	22	95434											
C7orf63	79846	broad.mit.edu	37	chr7	89938590	89938590	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagaaagcaaaaagccTtcaagaaaaagctatagaag	7	8	2	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:89938590T>A	uc010lep.2	+	22	2815	c.2564T>A	c.(2563-2565)CTT>CAT	p.L855H	C7orf63_uc011khj.1_Missense_Mutation_p.L837H|C7orf63_uc011khk.1_Missense_Mutation_p.L371H	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	855							binding			ovary(1)	1						GCAAAAAGCCTTCAAGAAAAA	0.299													A	89938590	T	A	89938590	3	1	176	1	0	0	0	0	1	0	0	0	2409	1609	56	5	2650	5	C7orf63	7	89938590	Missense_Mutation	SNP	T	TCGA-CG-4455-01A-01D-1158-08	2461408	89938590	69200073	23	95435											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99117466	99117466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagcccttcctgttctccaAgttccttcccttcccctgaa	4	17	1	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:99117466A>G	uc003uqv.2	+	4	694	c.570A>G	c.(568-570)CAA>CAG	p.Q190Q	ZKSCAN5_uc010lfx.2_Silent_p.Q190Q|ZKSCAN5_uc003uqw.2_Silent_p.Q190Q|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	190					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)					CTGTTCTCCAAGTTCCTTCCC	0.527													G	99117466	A	G	99117466	2	3	176	1	0	0	0	0	0	0	0	1	17687	69	3	3		3	ZKSCAN5	7	99117466	Silent	SNP	A	TCGA-CG-4455-01A-01D-1158-08	9178876	99117466	60021197	24	95436											
SERPINE1	5054	broad.mit.edu	37	chr7	100773794	100773794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccacagacgcgatcttcGtccagcgggatctgaagctg	12	13	2	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr7:100773794G>A	uc003uxt.2	+	3	512	c.364G>A	c.(364-366)GTC>ATC	p.V122I	SERPINE1_uc011kkj.1_Missense_Mutation_p.V107I|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	122					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			ovary(1)|lung(1)|central_nervous_system(1)	3	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)	CGCGATCTTCGTCCAGCGGGA	0.597													A	100773794	G	A	100773794	3	1	176	1	0	0	0	0	1	0	0	0	14111	1145	40	1	370	1	SERPINE1	7	100773794	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	1656328	100773794	58364869	25	95437											
MTSS1	9788	broad.mit.edu	37	chr8	125603445	125603445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctcatgcacatcctGgtgagagcagatccaatctc	9	13	2	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr8:125603445G>A	uc003yrk.2	-	4	774	c.240C>T	c.(238-240)ACC>ACT	p.T80T	MTSS1_uc003yrj.2_Silent_p.T80T|MTSS1_uc003yrl.2_Silent_p.T80T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	80	IMD.				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			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCACATCCTGGTGAGAGCAG	0.517													A	125603445	G	A	125603445	2	1	176	1	0	0	0	0	0	0	0	1	9962	1335	47	4		4	MTSS1	8	125603445	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08		125603445	20760577	26	95438											
C9orf79	286234	broad.mit.edu	37	chr9	90500005	90500005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcctctggcctccacCctgtcaccaggcccgatgac	8	20	2	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr9:90500005C>T	uc004app.3	+	4	638	c.603C>T	c.(601-603)ACC>ACT	p.T201T	C9orf79_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	201	Pro-rich.					integral to membrane				ovary(3)	3						TGGCCTCCACCCTGTCACCAG	0.622													T	90500005	C	T	90500005	2	4	176	1	0	0	0	0	0	0	0	1	2497	610	22	4		4	C9orf79	9	90500005	Silent	SNP	C	TCGA-CG-4455-01A-01D-1158-08		90500005	50713426	27	95439											
SOHLH1	402381	broad.mit.edu	37	chr9	138588519	138588519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtgcctcacacttgtcCgtgcccagggacgtgcagct	11	14	1	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr9:138588519C>T	uc004cgl.2	-	5	661	c.600G>A	c.(598-600)ACG>ACA	p.T200T	SOHLH1_uc010nbe.2_Silent_p.T200T	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	200					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CACACTTGTCCGTGCCCAGGG	0.682													T	138588519	C	T	138588519	2	4	176	1	0	0	0	0	0	0	0	1	14923	639	23	1		1	SOHLH1	9	138588519	Silent	SNP	C	TCGA-CG-4455-01A-01D-1158-08	48088514	138588519	2624912	28	95440											
ITGA8	8516	broad.mit.edu	37	chr10	15714730	15714730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaatgatatctgcaacaCtggcagtgatcacttgtcct	8	10	2	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr10:15714730C>T	uc001ioc.1	-	7	695	c.695G>A	c.(694-696)AGT>AAT	p.S232N	ITGA8_uc010qcb.1_Missense_Mutation_p.S232N	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	232	FG-GAP 3.|Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						ATCTGCAACACTGGCAGTGAT	0.443													T	15714730	C	T	15714730	3	4	176	1	0	0	0	0	1	0	0	0	7882	565	20	4	2592	4	ITGA8	10	15714730	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08		15714730	119820017	29	95441											
PTER	9317	broad.mit.edu	37	chr10	16553208	16553208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcataactgagaatgtgcttGataagattctaatagagaac	9	5	1	4			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr10:16553208G>A	uc001iog.1	+	6	1210	c.1003G>A	c.(1003-1005)GAT>AAT	p.D335N	PTER_uc001ioh.1_Missense_Mutation_p.D335N|PTER_uc001ioi.1_Missense_Mutation_p.D335N|PTER_uc009xjp.1_Missense_Mutation_p.D288N	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	335					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						GAATGTGCTTGATAAGATTCT	0.383													A	16553208	G	A	16553208	3	1	176	1	0	0	0	0	1	0	0	0	12739	1290	45	4	1017	4	PTER	10	16553208	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	838478	16553208	118981539	30	95442											
CUBN	8029	broad.mit.edu	37	chr10	16941012	16941012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaccttcacgaagctattctGacattgtccatcaccgctgg	7	13	3	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr10:16941012G>A	uc001ioo.2	-	54	8633	c.8581C>T	c.(8581-8583)CAG>TAG	p.Q2861*	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Nonsense_Mutation_p.Q217*	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2861	CUB 21.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCTATTCTGACATTGTCCA	0.408													A	16941012	G	A	16941012	4	1	176	1	0	0	0	0	0	1	0	0	4051	1299	45	4	2346	4	CUBN	10	16941012	Nonsense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	387804	16941012	118593735	31	95443											
MUC6	4588	broad.mit.edu	37	chr11	1016108	1016108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggggtgggagacacggtAacagtggatatggggagtag	20	3	0	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr11:1016108A>G	uc001lsw.2	-	31	6744	c.6693T>C	c.(6691-6693)GTT>GTC	p.V2231V		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2231	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GAGACACGGTAACAGTGGATA	0.592													G	1016108	A	G	1016108	2	3	176	1	0	0	0	0	0	0	0	1	9980	349	13	3		3	MUC6	11	1016108	Silent	SNP	A	TCGA-CG-4455-01A-01D-1158-08		1016108	133990408	32	95444											
OR51B6	390058	broad.mit.edu	37	chr11	5373214	5373214	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccattatgccaatagttgtTcgcctacactggtttcccta	6	12	0	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr11:5373214T>A	uc010qzb.1	+	1	477	c.477T>A	c.(475-477)GTT>GTA	p.V159V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATAGTTGTTCGCCTACACT	0.483													A	5373214	T	A	5373214	2	1	176	1	0	0	0	0	0	0	0	1	11092	1770	62	5		5	OR51B6	11	5373214	Silent	SNP	T	TCGA-CG-4455-01A-01D-1158-08	4357106	5373214	129633302	33	95445											
GLYATL2	219970	broad.mit.edu	37	chr11	58605807	58605807	+	Frame_Shift_Del	DEL	T	T	-													gcacctccatgttgaaagggTttttatcttttatgttgaaa							TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr11:58605806_58605806GT>G	uc001nnd.4	-	2	245	c.114_114AC>C	c.(112-114)aacfs	p.N38fs	GLYATL2_uc009ymq.3_Frame_Shift_Del_p.N38fs	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	38						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)	TGTTGAAAGGGTTTTTATCTT	0.428													-	58605807	T	-	58605807	7	5	176	1	0	1	0	1	0	0	0	0	6481	1725	60	0	787	0	GLYATL2	11	58605807	Frame_Shift_Del	DEL	T	TCGA-CG-4455-01A-01D-1158-08	53232593	58605807	76400709	34	95446											
RCE1	9986	broad.mit.edu	37	chr11	66611449	66611449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcacatccctgctcacccTgatgggcttcaggctggagg	13	13	2	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr11:66611449T>C	uc001ojk.1	+	3	355	c.311T>C	c.(310-312)CTG>CCG	p.L104P	RCE1_uc001ojl.1_5'UTR	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	104					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						CTGCTCACCCTGATGGGCTTC	0.577													C	66611449	T	C	66611449	3	2	176	1	0	0	0	0	1	0	0	0	13176	1580	55	3	321	3	RCE1	11	66611449	Missense_Mutation	SNP	T	TCGA-CG-4455-01A-01D-1158-08	8005642	66611449	68395067	35	95447											
PPFIA1	8500	broad.mit.edu	37	chr11	70172808	70172808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagccaaatgaaagaaCgcctggcttccctttccagt	8	12	0	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr11:70172808C>T	uc001opo.2	+	7	1012	c.814C>T	c.(814-816)CGC>TGC	p.R272C	PPFIA1_uc001opn.1_Missense_Mutation_p.R272C|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	272	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AATGAAAGAACGCCTGGCTTC	0.423													T	70172808	C	T	70172808	3	4	176	1	0	0	0	0	1	0	0	0	12309	536	19	1	836	1	PPFIA1	11	70172808	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08	3561359	70172808	64833708	36	95448											
NPAT	4863	broad.mit.edu	37	chr11	108043212	108043212	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacattagctgaaaaagcAatgccatcttcattctgagt	7	8	3	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr11:108043212A>C	uc001pjz.3	-	13	2601	c.2499T>G	c.(2497-2499)ATT>ATG	p.I833M	NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.I628M	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	833	Required for acceleration of G1 phase.				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			ovary(2)	2		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)		CTGAAAAAGCAATGCCATCTT	0.393													C	108043212	A	C	108043212	3	2	176	1	0	0	0	0	1	0	0	0	10566	126	5	5	1808	5	NPAT	11	108043212	Missense_Mutation	SNP	A	TCGA-CG-4455-01A-01D-1158-08	37870404	108043212	26963304	37	95449											
PLBD1	79887	broad.mit.edu	37	chr12	14659923	14659923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcactttcccttggtcaCgccggaaaattttggctcgt	9	12	2	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr12:14659923C>T	uc001rcc.1	-	9	1477	c.1316G>A	c.(1315-1317)CGT>CAT	p.R439H		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	439					lipid catabolic process	extracellular region	hydrolase activity				0						CCCTTGGTCACGCCGGAAAAT	0.408													T	14659923	C	T	14659923	3	4	176	1	0	0	0	0	1	0	0	0	12025	536	19	1	357	1	PLBD1	12	14659923	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08		14659923	119191972	38	95450											
SLC11A2	4891	broad.mit.edu	37	chr12	51390641	51390641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgttgtgtggcatgaTgacagctcccacgatgccca	11	11	0	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr12:51390641T>C	uc001rxe.3	-	9	887	c.790A>G	c.(790-792)ATC>GTC	p.I264V	SLC11A2_uc001rxd.3_Missense_Mutation_p.I113V|SLC11A2_uc001rxc.3_Missense_Mutation_p.I264V|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'Flank|SLC11A2_uc010smx.1_Missense_Mutation_p.I260V|SLC11A2_uc001rxh.1_Missense_Mutation_p.I264V|SLC11A2_uc001rxj.1_Missense_Mutation_p.I264V|SLC11A2_uc001rxi.2_Missense_Mutation_p.I264V|SLC11A2_uc001rxk.1_Missense_Mutation_p.I293V|SLC11A2_uc010smy.1_Missense_Mutation_p.I227V	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	264	Helical; (Potential).				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|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese 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			large_intestine(1)	1						TGTGGCATGATGACAGCTCCC	0.522													C	51390641	T	C	51390641	3	2	176	1	0	0	0	0	1	0	0	0	14381	1464	51	3	1009	3	SLC11A2	12	51390641	Missense_Mutation	SNP	T	TCGA-CG-4455-01A-01D-1158-08	36730718	51390641	82461254	39	95451											
CCNA1	8900	broad.mit.edu	37	chr13	37016312	37016312	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtcttgattagccagAaacccttgctgcatttacag	7	10	1	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr13:37016312A>C	uc001uvr.3	+	8	1567	c.1217A>C	c.(1216-1218)GAA>GCA	p.E406A	CCNA1_uc010teo.1_Missense_Mutation_p.E362A|CCNA1_uc010abq.2_Missense_Mutation_p.E362A|CCNA1_uc010abp.2_Missense_Mutation_p.E362A|CCNA1_uc001uvs.3_Missense_Mutation_p.E405A|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	406					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			lung(2)|skin(2)|ovary(1)	5		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)		GATTAGCCAGAAACCCTTGCT	0.363													C	37016312	A	C	37016312	3	2	176	1	0	0	0	0	1	0	0	0	2909	246	9	5	1247	5	CCNA1	13	37016312	Missense_Mutation	SNP	A	TCGA-CG-4455-01A-01D-1158-08		37016312	78153566	40	95452											
TRIM13	10206	broad.mit.edu	37	chr13	50586534	50586534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctttgagacctggcGtcggggagatgctctttctc	13	11	2	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr13:50586534G>A	uc001vdq.1	+	3	771	c.458G>A	c.(457-459)CGT>CAT	p.R153H	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_5'Flank|KCNRG_uc001vdu.2_5'Flank|TRIM13_uc001vdp.1_Missense_Mutation_p.R156H|TRIM13_uc001vdr.1_Missense_Mutation_p.R153H|TRIM13_uc001vds.1_Missense_Mutation_p.R153H	NM_052811	NP_434698	O60858	TRI13_HUMAN	ret finger protein 2 isoform 1	153					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			ovary(2)	2		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)		GAGACCTGGCGTCGGGGAGAT	0.453													A	50586534	G	A	50586534	3	1	176	1	0	0	0	0	1	0	0	0	16485	1145	40	1	473	1	TRIM13	13	50586534	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	13570222	50586534	64583344	41	95453											
EDNRB	1910	broad.mit.edu	37	chr13	78492255	78492255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatagggatgtcaatgaCgatgtgcagcaggtctccca	12	8	2	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr13:78492255C>T	uc001vko.2	-	1	712	c.454G>A	c.(454-456)GTC>ATC	p.V152I	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.V152I|EDNRB_uc010aez.1_Missense_Mutation_p.V152I|EDNRB_uc001vkp.1_Missense_Mutation_p.V235I|EDNRB_uc010afa.1_Missense_Mutation_p.V152I	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	152	Helical; Name=2; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATGTCAATGACGATGTGCAGC	0.507													T	78492255	C	T	78492255	3	4	176	1	0	0	0	0	1	0	0	0	4920	536	19	1	1023	1	EDNRB	13	78492255	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08	27905721	78492255	36677623	42	95454											
KIAA1409	57578	broad.mit.edu	37	chr14	94173133	94173133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaggacgctgccgggctcGggccagagcagtgctggcct	16	13	0	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr14:94173133G>A	uc001ybv.1	+	48	7409	c.7326G>A	c.(7324-7326)TCG>TCA	p.S2442S	KIAA1409_uc001ybs.1_Silent_p.S2420S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2597						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGCCGGGCTCGGGCCAGAGCA	0.597													A	94173133	G	A	94173133	2	1	176	1	0	0	0	0	0	0	0	1	8230	1103	39	1		1	KIAA1409	14	94173133	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08		94173133	13176407	43	95455											
ASB2	51676	broad.mit.edu	37	chr14	94405616	94405616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcgacaggcacttcatGgcgaacatgatggtggcggg	16	9	1	1	rs140791740		TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr14:94405616G>A	uc001ycc.1	-	6	1800	c.1311C>T	c.(1309-1311)GCC>GCT	p.A437A	ASB2_uc001ycb.1_Silent_p.A131A|ASB2_uc001ycd.2_Silent_p.A485A|ASB2_uc001yce.1_Silent_p.A383A	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	437	ANK 12.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GGCACTTCATGGCGAACATGA	0.667													A	94405616	G	A	94405616	2	1	176	1	0	0	0	0	0	0	0	1	1023	1335	47	4		4	ASB2	14	94405616	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08	232483	94405616	12943924	44	95456											
AQR	9716	broad.mit.edu	37	chr15	35196621	35196621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccattttgtatagtattGgtcatatcttgttgatactg	8	6	2	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr15:35196621G>A	uc001ziv.2	-	19	2098	c.1917C>T	c.(1915-1917)ACC>ACT	p.T639T		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	639						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		GTATAGTATTGGTCATATCTT	0.353													A	35196621	G	A	35196621	2	1	176	1	0	0	0	0	0	0	0	1	835	1335	47	4		4	AQR	15	35196621	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08		35196621	67334771	45	95457											
UNC45B	146862	broad.mit.edu	37	chr17	33495164	33495164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggcccctttgacctGggcaaccagctgctgggact	13	14	0	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr17:33495164G>A	uc002hja.2	+	10	1333	c.1236G>A	c.(1234-1236)CTG>CTA	p.L412L	UNC45B_uc002hjb.2_Silent_p.L412L|UNC45B_uc002hjc.2_Silent_p.L412L|UNC45B_uc010cto.2_Silent_p.L412L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	412					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				CCTTTGACCTGGGCAACCAGC	0.572													A	33495164	G	A	33495164	2	1	176	1	0	0	0	0	0	0	0	1	16986	1335	47	4		4	UNC45B	17	33495164	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08		33495164	47700046	46	95458											
DNAI2	64446	broad.mit.edu	37	chr17	72295860	72295860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctccttcctcaccagcctGctgggacacccgaaagggca	9	16	2	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr17:72295860G>T	uc002jkf.2	+	7	827	c.728G>T	c.(727-729)TGC>TTC	p.C243F	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	243	WD 2.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						TCACCAGCCTGCTGGGACACC	0.612									Kartagener_syndrome				T	72295860	G	T	72295860	3	4	176	1	0	0	0	0	1	0	0	0	4610	1319	46	5	750	5	DNAI2	17	72295860	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	38800696	72295860	8899350	47	95459											
DUS1L	64118	broad.mit.edu	37	chr17	80019108	80019108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccacagcttgaagagGtgggcccggacgtaggacag	17	9	0	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr17:80019108G>A	uc002kdq.2	-	7	1238	c.819C>T	c.(817-819)CAC>CAT	p.H273H	DUS1L_uc002kdp.2_Silent_p.H142H|DUS1L_uc002kdr.2_Silent_p.H273H|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Silent_p.H256H	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	273					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	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)			GCTTGAAGAGGTGGGCCCGGA	0.667													A	80019108	G	A	80019108	2	1	176	1	0	0	0	0	0	0	0	1	4805	1252	44	4		4	DUS1L	17	80019108	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08	7723248	80019108	1176102	48	95460											
SYT4	6860	broad.mit.edu	37	chr18	40850588	40850588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagattctctttttggcatgGtacaggttcactttgacata	9	7	2	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr18:40850588G>A	uc002law.2	-	4	1365	c.996C>T	c.(994-996)TAC>TAT	p.Y332Y	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.Y314Y|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	332	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						TTTTGGCATGGTACAGGTTCA	0.433													A	40850588	G	A	40850588	2	1	176	1	0	0	0	0	0	0	0	1	15473	1256	44	4		4	SYT4	18	40850588	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08		40850588	37226660	49	95461											
SERPINB7	8710	broad.mit.edu	37	chr18	61460423	61460424	+	Frame_Shift_Ins	INS	-	-	T													cagtctcaactgaaaagagtINStttttctgatataaatgcat							TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr18:61460422_61460423G>GT	uc002ljl.3	+	3	343_344	c.247_248G>GT	c.(247-249)gttfs	p.V83fs	SERPINB7_uc002ljm.3_Frame_Shift_Ins_p.V83fs|SERPINB7_uc010xet.2_Frame_Shift_Ins_p.V66fs|SERPINB7_uc010dqg.3_Frame_Shift_Ins_p.V83fs	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	83					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ACTGAAAAGAGTTTTTTCTGAT	0.327													T	61460424	-	T	61460423	7	5	176	1	0	1	1	0	0	0	0	0	14106	1725	60	0	258	0	SERPINB7	18	61460423	Frame_Shift_Ins	INS	-	TCGA-CG-4455-01A-01D-1158-08	20609835	61460423	16616825	50	95462											
ACTL9	284382	broad.mit.edu	37	chr19	8808873	8808873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaacctaccttacagGtgcctgtgcccatgtcaata	7	13	1	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr19:8808873G>A	uc002mkl.2	-	1	300	c.179C>T	c.(178-180)ACC>ATC	p.T60I		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	60						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						TACCTTACAGGTGCCTGTGCC	0.652													A	8808873	G	A	8808873	3	1	176	1	0	0	0	0	1	0	0	0	203	1261	44	4	1075	4	ACTL9	19	8808873	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08		8808873	50320110	51	95463											
FCHO1	23149	broad.mit.edu	37	chr19	17883497	17883497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgagaacgtcagcgtggAgatgctactcaggaagtttg	13	8	2	2			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr19:17883497A>G	uc010ebb.2	+	10	926	c.737A>G	c.(736-738)GAG>GGG	p.E246G	FCHO1_uc002nhg.3_Missense_Mutation_p.E246G|FCHO1_uc002nhh.2_Missense_Mutation_p.E246G|FCHO1_uc010xpw.1_Missense_Mutation_p.E196G|FCHO1_uc010ebc.1_Missense_Mutation_p.E253G	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	246										breast(1)	1						GTCAGCGTGGAGATGCTACTC	0.607													G	17883497	A	G	17883497	3	3	176	1	0	0	0	0	1	0	0	0	5787	304	11	3	767	3	FCHO1	19	17883497	Missense_Mutation	SNP	A	TCGA-CG-4455-01A-01D-1158-08	9074624	17883497	41245486	52	95464											
POFUT1	23509	broad.mit.edu	37	chr20	30818669	30818669	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggactgcaggctcgcacttCatggcctctccgcagtgtgt	13	13	2	0			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr20:30818669C>A	uc002wxp.2	+	6	832	c.783C>A	c.(781-783)TTC>TTA	p.F261L	POFUT1_uc010ztt.1_Missense_Mutation_p.F153L|POFUT1_uc010ztu.1_Missense_Mutation_p.F50L	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	261					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTCGCACTTCATGGCCTCTC	0.612													A	30818669	C	A	30818669	3	1	176	1	0	0	0	0	1	0	0	0	12183	825	29	5	852	5	POFUT1	20	30818669	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08		30818669	32206851	53	95465											
C20orf195	79025	broad.mit.edu	37	chr20	62187890	62187890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgagacctccacgctgGtgtacgagccctggagggac	16	13	0	1			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chr20:62187890G>A	uc002yfj.2	+	2	966	c.874G>A	c.(874-876)GTG>ATG	p.V292M	C20orf195_uc002yfk.2_Missense_Mutation_p.V292M	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	292											0	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)			CTCCACGCTGGTGTACGAGCC	0.612													A	62187890	G	A	62187890	3	1	176	1	0	0	0	0	1	0	0	0	2100	1261	44	4	876	4	C20orf195	20	62187890	Missense_Mutation	SNP	G	TCGA-CG-4455-01A-01D-1158-08	31369221	62187890	837630	54	95466											
BCOR	54880	broad.mit.edu	37	chrX	39932669	39932669	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtggggacctgaatgcctCatttggagacagaaatatag	13	6	1	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chrX:39932669C>A	uc004den.3	-	4	2222	c.1930G>T	c.(1930-1932)GAG>TAG	p.E644*	BCOR_uc004dep.3_Nonsense_Mutation_p.E644*|BCOR_uc004deo.3_Nonsense_Mutation_p.E644*|BCOR_uc004dem.3_Nonsense_Mutation_p.E644*|BCOR_uc004deq.3_Nonsense_Mutation_p.E644*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	644	Pro-rich.				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			ovary(2)|kidney(1)|central_nervous_system(1)	4						CTGAATGCCTCATTTGGAGAC	0.547													A	39932669	C	A	39932669	4	1	176	1	0	0	0	0	0	1	0	0	1386	835	29	5	3385	5	BCOR	23	39932669	Nonsense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08		39932669	115337891	55	95467											
PAK3	5063	broad.mit.edu	37	chrX	110391110	110391110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaatacatgagctttaCatcaggaggtaagaggaagt	11	6	1	3			TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chrX:110391110C>T	uc004epa.2	+	4	494	c.467C>T	c.(466-468)ACA>ATA	p.T156I	PAK3_uc010npt.1_Missense_Mutation_p.T141I|PAK3_uc010npu.1_Missense_Mutation_p.T141I|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.T141I|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.T177I|PAK3_uc010npw.1_Missense_Mutation_p.T162I	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	156	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						ATGAGCTTTACATCAGGAGGT	0.358										TSP Lung(19;0.15)			T	110391110	C	T	110391110	3	4	176	1	0	0	0	0	1	0	0	0	11402	478	17	4	548	4	PAK3	23	110391110	Missense_Mutation	SNP	C	TCGA-CG-4455-01A-01D-1158-08	70458441	110391110	44879450	56	95468											
GPR112	139378	broad.mit.edu	37	chrX	135496392	135496392	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctttgagcacaaactGttgacgccatctctcaagtc	6	11	3	2	rs150960878	byFrequency	TCGA-CG-4455-01A-01D-1158-08	TCGA-CG-4455-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2386c96-488e-4ddd-9d4c-fdea808aee19	9fc0cbc4-e8d8-4e74-ad52-327e4e1afe98	g.chrX:135496392G>T	uc004ezu.1	+	25	9402	c.9111G>T	c.(9109-9111)CTG>CTT	p.L3037L	GPR112_uc010nsb.1_Silent_p.L2832L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	3037	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AGCACAAACTGTTGACGCCAT	0.408													T	135496392	G	T	135496392	2	4	176	1	0	0	0	0	0	0	0	1	6629	1364	48	5		5	GPR112	23	135496392	Silent	SNP	G	TCGA-CG-4455-01A-01D-1158-08	25105282	135496392	19774168	57	95469											
PLEKHG5	57449	broad.mit.edu	37	chr1	6530360	6530360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgccgcgtctcctccGgggaggcgccagggatgggc	18	14	1	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:6530360G>A	uc001ano.1	-	17	2005	c.1904C>T	c.(1903-1905)CCG>CTG	p.P635L	PLEKHG5_uc001ann.1_Missense_Mutation_p.P616L|PLEKHG5_uc001anq.1_Missense_Mutation_p.P656L|PLEKHG5_uc001anp.1_Missense_Mutation_p.P656L|PLEKHG5_uc001anj.1_Missense_Mutation_p.P140L|PLEKHG5_uc009vma.1_Missense_Mutation_p.P419L|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P648L|PLEKHG5_uc001ank.1_Missense_Mutation_p.P579L|PLEKHG5_uc009vmb.1_Missense_Mutation_p.P579L|PLEKHG5_uc001anl.1_Missense_Mutation_p.P579L|PLEKHG5_uc001anm.1_Missense_Mutation_p.P579L|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	635					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)		CGTCTCCTCCGGGGAGGCGCC	0.657													A	6530360	G	A	6530360	3	1	177	1	0	0	0	0	1	0	0	0	12073	1116	39	1	1308	1	PLEKHG5	1	6530360	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08		6530360	242720261	1	95470											
TRIM62	55223	broad.mit.edu	37	chr1	33612785	33612785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgcctggactagatgCggacggtgttgatccgcagc	13	12	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:33612785C>T	uc001bxb.2	-	5	2059	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	474	B30.2/SPRY.			R -> L (in Ref. 1; BAA91792).		intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				GGACTAGATGCGGACGGTGTT	0.463													T	33612785	C	T	33612785	3	4	177	1	0	0	0	0	1	0	0	0	16534	768	27	1	10	1	TRIM62	1	33612785	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	27082425	33612785	215637836	2	95471											
CSMD2	114784	broad.mit.edu	37	chr1	34312507	34312507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtattgggcactgaatccGcgctgccggtggttgccatc	14	11	0	1	rs143306375		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:34312507G>A	uc001bxn.1	-	6	920	c.891C>T	c.(889-891)CGC>CGT	p.R297R	CSMD2_uc001bxm.1_Silent_p.R337R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	297	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGAATCCGCGCTGCCGGT	0.607													A	34312507	G	A	34312507	2	1	177	1	0	0	0	0	0	0	0	1	3945	1074	38	1		1	CSMD2	1	34312507	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	699722	34312507	214938114	3	95472											
KIF2C	11004	broad.mit.edu	37	chr1	45226090	45226090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgagcgaggcgcggacacTtccagtgctgaccggcagac	14	12	0	3			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:45226090T>C	uc001cmg.3	+	15	1621	c.1506T>C	c.(1504-1506)ACT>ACC	p.T502T	KIF2C_uc010olb.1_Silent_p.T461T|KIF2C_uc010olc.1_Silent_p.T389T|KIF2C_uc001cmh.3_Silent_p.T448T	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	502	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCGCGGACACTTCCAGTGCTG	0.562													C	45226090	T	C	45226090	2	2	177	1	0	0	0	0	0	0	0	1	8299	1596	56	3		3	KIF2C	1	45226090	Silent	SNP	T	TCGA-CG-4462-01A-01D-1158-08	10913583	45226090	204024531	4	95473											
LHX8	431707	broad.mit.edu	37	chr1	75614308	75614308	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgctcaggacaacaacccaGatgcacagacactccagaaa	7	13	1	3			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:75614308G>C	uc001dgo.2	+	8	1415	c.751G>C	c.(751-753)GAT>CAT	p.D251H	LHX8_uc001dgq.2_Missense_Mutation_p.D190H	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	251	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CAACAACCCAGATGCACAGAC	0.358													C	75614308	G	C	75614308	3	2	177	1	0	0	0	0	1	0	0	0	8776	942	33	5	777	5	LHX8	1	75614308	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	30388218	75614308	173636313	5	95474											
ATXN7L2	127002	broad.mit.edu	37	chr1	110028719	110028719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaaacacgaagaagttGgatgccatgaccctcattaa	8	9	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:110028719G>A	uc001dxr.2	+	2	183	c.168G>A	c.(166-168)TTG>TTA	p.L56L	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	56										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGAAGAAGTTGGATGCCATGA	0.537													A	110028719	G	A	110028719	2	1	177	1	0	0	0	0	0	0	0	1	1217	1339	47	4		4	ATXN7L2	1	110028719	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	34414411	110028719	139221902	6	95475											
SPTA1	6708	broad.mit.edu	37	chr1	158589036	158589036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggatccattgaaggAaggtactggcattctgttca	10	8	2	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:158589036A>G	uc001fst.1	-	45	6705	c.6506T>C	c.(6505-6507)TTC>TCC	p.F2169S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2169	Spectrin 21.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCATTGAAGGAAGGTACTGGC	0.478													G	158589036	A	G	158589036	3	3	177	1	0	0	0	0	1	0	0	0	15115	246	9	3	785	3	SPTA1	1	158589036	Missense_Mutation	SNP	A	TCGA-CG-4462-01A-01D-1158-08	48560317	158589036	90661585	7	95476											
FAM5C	339479	broad.mit.edu	37	chr1	190195436	190195436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagatagtctgggagaAgtacttgaagcccttgaaga	12	7	1	6			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:190195436A>C	uc001gse.1	-	6	969	c.737T>G	c.(736-738)CTT>CGT	p.L246R	FAM5C_uc010pot.1_Missense_Mutation_p.L144R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	246						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GTCTGGGAGAAGTACTTGAAG	0.318													C	190195436	A	C	190195436	3	2	177	1	0	0	0	0	1	0	0	0	5594	72	3	5	1575	5	FAM5C	1	190195436	Missense_Mutation	SNP	A	TCGA-CG-4462-01A-01D-1158-08	31606400	190195436	59055185	8	95477											
ACTN2	88	broad.mit.edu	37	chr1	236881196	236881196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcccacctaaggaaagcCggcacccagattgagaacat	8	13	0	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr1:236881196C>T	uc001hyf.2	+	2	369	c.165C>T	c.(163-165)GCC>GCT	p.A55A	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.A55A	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	55	CH 1.|Actin-binding.				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			ovary(4)|skin(1)	5	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)			TAAGGAAAGCCGGCACCCAGA	0.478													T	236881196	C	T	236881196	2	4	177	1	0	0	0	0	0	0	0	1	205	639	23	1		1	ACTN2	1	236881196	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08	46685760	236881196	12369425	9	95478											
ALK	238	broad.mit.edu	37	chr2	29416141	29416141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcagaatggtatcctcGtaatgaccagctccaggggc	10	11	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:29416141G>A	uc002rmy.2	-	29	5719	c.4812C>T	c.(4810-4812)TAC>TAT	p.Y1604Y	ALK_uc010ymo.1_Silent_p.Y536Y	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1604	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGGTATCCTCGTAATGACCAG	0.537			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	29416141	G	A	29416141	2	1	177	1	0	0	0	0	0	0	0	1	525	1140	40	1		1	ALK	2	29416141	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08		29416141	213783232	10	95479											
ATP6V1E2	90423	broad.mit.edu	37	chr2	46739557	46739557	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctgctgagtctcagcttCgcctcactgagcaaatctga	8	13	3	3	rs147271327		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:46739557C>T	uc002ruy.2	-	2	1408	c.294G>A	c.(292-294)GCG>GCA	p.A98A	ATP6V1E2_uc002ruz.2_Silent_p.A98A	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1	98					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTCTCAGCTTCGCCTCACTGA	0.547													T	46739557	C	T	46739557	2	4	177	1	0	0	0	0	0	0	0	1	1184	871	31	1		1	ATP6V1E2	2	46739557	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08	17323416	46739557	196459816	11	95480											
CTNNA2	1496	broad.mit.edu	37	chr2	80874849	80874849	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtcaactcacctgttgtgtCttggaagatgaaggctccag	11	9	3	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:80874849C>T	uc010ysh.1	+	18	2719	c.2714C>T	c.(2713-2715)TCT>TTT	p.S905F	CTNNA2_uc010yse.1_Missense_Mutation_p.S857F|CTNNA2_uc010ysf.1_Missense_Mutation_p.S857F|CTNNA2_uc010ysg.1_Missense_Mutation_p.S812F|CTNNA2_uc010ysi.1_Missense_Mutation_p.S489F|CTNNA2_uc010ysj.1_Missense_Mutation_p.S186F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	905					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CCTGTTGTGTCTTGGAAGATG	0.478													T	80874849	C	T	80874849	3	4	177	1	0	0	0	0	1	0	0	0	4013	913	32	4	2428	4	CTNNA2	2	80874849	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	34135292	80874849	162324524	12	95481											
RETSAT	54884	broad.mit.edu	37	chr2	85581480	85581480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgagaaccttcttccTggcctccttgtcagttacca	7	12	2	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:85581480T>A	uc002spd.2	-	1	342	c.151A>T	c.(151-153)AGG>TGG	p.R51W	ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.3_5'Flank|ELMOD3_uc002spg.3_5'Flank|ELMOD3_uc002sph.3_5'Flank|ELMOD3_uc010ysn.1_5'Flank|ELMOD3_uc010yso.1_5'Flank|ELMOD3_uc010ysp.1_5'Flank|RETSAT_uc010ysm.1_Missense_Mutation_p.R51W|RETSAT_uc010fgf.2_Missense_Mutation_p.R51W	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	51					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	ACCTTCTTCCTGGCCTCCTTG	0.557													A	85581480	T	A	85581480	3	1	177	1	0	0	0	0	1	0	0	0	13238	1579	55	5	1725	5	RETSAT	2	85581480	Missense_Mutation	SNP	T	TCGA-CG-4462-01A-01D-1158-08	4706631	85581480	157617893	13	95482											
GPR17	2840	broad.mit.edu	37	chr2	128409297	128409297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcgaagggaaaaccaacGagagctcgctgagtgccaag	13	10	0	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:128409297G>A	uc010yzn.1	+	4	1683	c.1072G>A	c.(1072-1074)GAG>AAG	p.E358K	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.E358K|GPR17_uc010yzo.1_Missense_Mutation_p.E330K|GPR17_uc002tpd.2_Missense_Mutation_p.E330K	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	358	Cytoplasmic (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GAAAACCAACGAGAGCTCGCT	0.612													A	128409297	G	A	128409297	3	1	177	1	0	0	0	0	1	0	0	0	6667	1059	37	1	1078	1	GPR17	2	128409297	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	42827817	128409297	114790076	14	95483											
LRP1B	53353	broad.mit.edu	37	chr2	140990851	140990851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcgacagttttgcccAtccatatataattttgcata	6	8	0	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:140990851A>G	uc002tvj.1	-	91	14676	c.13704T>C	c.(13702-13704)GAT>GAC	p.D4568D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4568	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		AGTTTTGCCCATCCATATATA	0.333										TSP Lung(27;0.18)			G	140990851	A	G	140990851	2	3	177	1	0	0	0	0	0	0	0	1	8955	214	8	3		3	LRP1B	2	140990851	Silent	SNP	A	TCGA-CG-4462-01A-01D-1158-08	12581554	140990851	102208522	15	95484											
TMEFF2	23671	broad.mit.edu	37	chr2	193059095	193059095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccagagcaattccagccGgtgggcgtttggcagtcact	12	11	1	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr2:193059095G>A	uc002utc.2	-	1	550	c.156C>T	c.(154-156)ACC>ACT	p.T52T	TMEFF2_uc002utd.1_Silent_p.T52T	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	52	Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATTCCAGCCGGTGGGCGTTT	0.602													A	193059095	G	A	193059095	2	1	177	1	0	0	0	0	0	0	0	1	16011	1103	39	1		1	TMEFF2	2	193059095	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	52068244	193059095	50140278	16	95485											
CHL1	10752	broad.mit.edu	37	chr3	382574	382574	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaaaggcctcccaccTttacacatttattggatgaa	5	14	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr3:382574T>G	uc003bou.2	+	6	754	c.483T>G	c.(481-483)CCT>CCG	p.P161P	CHL1_uc003bot.2_Silent_p.P161P|CHL1_uc003bow.1_Silent_p.P161P|CHL1_uc011asi.1_Silent_p.P161P	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	161	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		GCCTCCCACCTTTACACATTT	0.398													G	382574	T	G	382574	2	3	177	1	0	0	0	0	0	0	0	1	3349	1596	56	5		5	CHL1	3	382574	Silent	SNP	T	TCGA-CG-4462-01A-01D-1158-08		382574	197639856	17	95486											
CAND2	23066	broad.mit.edu	37	chr3	12858905	12858905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcaagcacagccagtcGcctggtctgcgatgccaggt	15	13	1	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr3:12858905G>A	uc003bxk.2	+	10	2523	c.2474G>A	c.(2473-2475)CGC>CAC	p.R825H	CAND2_uc003bxj.2_Missense_Mutation_p.R732H	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	825					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						ACAGCCAGTCGCCTGGTCTGC	0.672													A	12858905	G	A	12858905	3	1	177	1	0	0	0	0	1	0	0	0	2616	1087	38	1	2512	1	CAND2	3	12858905	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	12476331	12858905	185163525	18	95487											
FBXO40	51725	broad.mit.edu	37	chr3	121341997	121341997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagccagaattctttaaCcagcctgcccctggagattt	7	11	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr3:121341997C>A	uc003eeg.2	+	3	1931	c.1721C>A	c.(1720-1722)ACC>AAC	p.T574N		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	574	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		AATTCTTTAACCAGCCTGCCC	0.512													A	121341997	C	A	121341997	3	1	177	1	0	0	0	0	1	0	0	0	5749	507	18	5	1727	5	FBXO40	3	121341997	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	108483092	121341997	76680433	19	95488											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815806	23815806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccaaagtctctctcaGgtagcactggtctgaatctg	9	12	4	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:23815806G>A	uc003gqs.2	-	8	1420	c.1300C>T	c.(1300-1302)CTG>TTG	p.L434L	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	434					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			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GTCTCTCTCAGGTAGCACTGG	0.493													A	23815806	G	A	23815806	2	1	177	1	0	0	0	0	0	0	0	1	12300	991	35	4		4	PPARGC1A	4	23815806	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08		23815806	167338470	20	95489											
KLB	152831	broad.mit.edu	37	chr4	39449979	39449979	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcattcaaactggctgaagaGaaatctaaacccagatttgg	9	8	2	3			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:39449979G>T	uc003gua.2	+	5	2905	c.2808G>T	c.(2806-2808)GAG>GAT	p.E936D	KLB_uc011byj.1_Missense_Mutation_p.E927D	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	936	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						TGGCTGAAGAGAAATCTAAAC	0.338													T	39449979	G	T	39449979	3	4	177	1	0	0	0	0	1	0	0	0	8332	933	33	5	2826	5	KLB	4	39449979	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	15634173	39449979	151704297	21	95490											
PDS5A	23244	broad.mit.edu	37	chr4	39915231	39915231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaattatatgttctcttacCgtccaagaaaacattgccaa	5	9	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:39915231C>T	uc003guv.3	-	9	1532	c.992G>A	c.(991-993)CGA>CAA	p.R331Q	PDS5A_uc010ifo.2_Missense_Mutation_p.R291Q|PDS5A_uc003guw.3_Missense_Mutation_p.R331Q	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	331					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						GTTCTCTTACCGTCCAAGAAA	0.348													T	39915231	C	T	39915231	3	4	177	1	0	0	0	0	1	0	0	0	11691	666	23	1	3154	1	PDS5A	4	39915231	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	465252	39915231	151239045	22	95491											
TACR3	6870	broad.mit.edu	37	chr4	104640440	104640440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaggcggccatggaggcGtcggagaaagccaggttcac	16	9	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:104640440G>A	uc003hxe.1	-	1	536	c.393C>T	c.(391-393)GAC>GAT	p.D131D		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	131	Helical; Name=2; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCATGGAGGCGTCGGAGAAAG	0.522													A	104640440	G	A	104640440	2	1	177	1	0	0	0	0	0	0	0	1	15504	1136	40	1		1	TACR3	4	104640440	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	64725209	104640440	86513836	23	95492											
C4orf31	79625	broad.mit.edu	37	chr4	121958208	121958208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagtagtactgcgtgtcGggtttcagatcagagacggt	13	7	3	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr4:121958208G>A	uc003idq.1	-	4	1445	c.918C>T	c.(916-918)CCC>CCT	p.P306P		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	306	Fibronectin type-III 1.										0						ACTGCGTGTCGGGTTTCAGAT	0.463													A	121958208	G	A	121958208	2	1	177	1	0	0	0	0	0	0	0	1	2261	1103	39	1		1	C4orf31	4	121958208	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	17317768	121958208	69196068	24	95493											
NIPBL	25836	broad.mit.edu	37	chr5	37052624	37052624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaaccgccaacacagaCgagcctttcttatttcttta	7	11	2	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:37052624C>T	uc003jkl.3	+	42	7718	c.7219C>T	c.(7219-7221)CGA>TGA	p.R2407*	NIPBL_uc003jkk.3_Nonsense_Mutation_p.R2407*|NIPBL_uc003jkn.2_Nonsense_Mutation_p.R100*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2407					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			CCAACACAGACGAGCCTTTCT	0.393													T	37052624	C	T	37052624	4	4	177	1	0	0	0	0	0	1	0	0	10428	528	19	1	7381	1	NIPBL	5	37052624	Nonsense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		37052624	143862636	25	95494											
VCAN	1462	broad.mit.edu	37	chr5	82834437	82834437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagctggcactttgtctcCgcatgtggaaactacattct	9	10	2	0	rs150017263		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:82834437C>T	uc003kii.3	+	8	5971	c.5615C>T	c.(5614-5616)CCG>CTG	p.P1872L	VCAN_uc003kij.3_Missense_Mutation_p.P885L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P536L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1872	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		ACTTTGTCTCCGCATGTGGAA	0.443													T	82834437	C	T	82834437	3	4	177	1	0	0	0	0	1	0	0	0	17135	652	23	1	5641	1	VCAN	5	82834437	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	45781813	82834437	98080823	26	95495											
GPR98	84059	broad.mit.edu	37	chr5	89948224	89948224	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttggcagctctttcagaatGattctgctttgcagcctggg	11	10	3	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:89948224G>T	uc003kju.2	+	19	3574	c.3478G>T	c.(3478-3480)GAT>TAT	p.D1160Y	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1160	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		CTTTCAGAATGATTCTGCTTT	0.383													T	89948224	G	T	89948224	3	4	177	1	0	0	0	0	1	0	0	0	6721	1290	45	5	3552	5	GPR98	5	89948224	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	7113787	89948224	90967036	27	95496											
PCDHA3	56145	broad.mit.edu	37	chr5	140182680	140182680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacacgggagagatcagcaCgacccgtgccctggacgagg	15	12	1	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:140182680C>T	uc003lhf.2	+	1	1898	c.1898C>T	c.(1897-1899)ACG>ATG	p.T633M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.T633M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCAGCACGACCCGTGCC	0.662													T	140182680	C	T	140182680	3	4	177	1	0	0	0	0	1	0	0	0	11525	536	19	1	1900	1	PCDHA3	5	140182680	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	50234456	140182680	40732580	28	95497											
C1QTNF2	114898	broad.mit.edu	37	chr5	159776723	159776723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccacgggggccagcccGcccaatggccccggctttgc	16	17	0	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:159776723G>A	uc003lyd.2	-	3	449	c.445C>T	c.(445-447)CGG>TGG	p.R149W		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	104	Collagen-like.					collagen				skin(1)	1	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)			GGGCCAGCCCGCCCAATGGCC	0.672													A	159776723	G	A	159776723	3	1	177	1	0	0	0	0	1	0	0	0	1963	1086	38	1	551	1	C1QTNF2	5	159776723	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	19594043	159776723	21138537	29	95498											
LCP2	3937	broad.mit.edu	37	chr5	169697919	169697919	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactttcataatcgtcttcTtcctgcccacacagtgatag	7	12	3	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr5:169697919T>G	uc003man.1	-	7	534	c.327A>C	c.(325-327)GAA>GAC	p.E109D	LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	109					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	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)		AATCGTCTTCTTCCTGCCCAC	0.507													G	169697919	T	G	169697919	3	3	177	1	0	0	0	0	1	0	0	0	8692	1606	56	5	1334	5	LCP2	5	169697919	Missense_Mutation	SNP	T	TCGA-CG-4462-01A-01D-1158-08	9921196	169697919	11217341	30	95499											
OR2B2	81697	broad.mit.edu	37	chr6	27879292	27879292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccatctttccccggTctttggagctgggtgaaggt	13	9	2	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:27879292T>C	uc011dkw.1	-	1	806	c.806A>G	c.(805-807)GAC>GGC	p.D269G		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTTCCCCGGTCTTTGGAGCT	0.443													C	27879292	T	C	27879292	3	2	177	1	0	0	0	0	1	0	0	0	10989	1667	58	3	271	3	OR2B2	6	27879292	Missense_Mutation	SNP	T	TCGA-CG-4462-01A-01D-1158-08		27879292	143235775	31	95500											
C6orf15	29113	broad.mit.edu	37	chr6	31079710	31079710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcccggagcgagggcCgcagcactggagaggtaaga	16	12	0	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:31079710C>T	uc003nsk.1	-	2	426	c.426G>A	c.(424-426)GCG>GCA	p.A142A	PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	142											0						GAGCGAGGGCCGCAGCACTGG	0.652													T	31079710	C	T	31079710	2	4	177	1	0	0	0	0	0	0	0	1	2336	639	23	1		1	C6orf15	6	31079710	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08	3200418	31079710	140035357	32	95501											
SENP6	26054	broad.mit.edu	37	chr6	76412460	76412460	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgtcatacagaaatgTtcaactgtagaggacagttg	10	6	2	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:76412460T>C	uc003pid.3	+	19	3007	c.2388T>C	c.(2386-2388)TGT>TGC	p.C796C	SENP6_uc003pie.3_Silent_p.C789C|SENP6_uc010kbf.2_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	796	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				TACAGAAATGTTCAACTGTAG	0.393													C	76412460	T	C	76412460	2	2	177	1	0	0	0	0	0	0	0	1	14050	1731	60	3		3	SENP6	6	76412460	Silent	SNP	T	TCGA-CG-4462-01A-01D-1158-08	45332750	76412460	94702607	33	95502											
GRIK2	2898	broad.mit.edu	37	chr6	102247636	102247636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacataaaccctggcgcttCgggacccgctttatgagtct	10	13	1	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:102247636C>T	uc003pqp.3	+	7	1314	c.1065C>T	c.(1063-1065)TTC>TTT	p.F355F	GRIK2_uc003pqn.2_Silent_p.F355F|GRIK2_uc003pqo.3_Silent_p.F355F|GRIK2_uc010kcw.2_Silent_p.F355F	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	355	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	CCTGGCGCTTCGGGACCCGCT	0.443													T	102247636	C	T	102247636	2	4	177	1	0	0	0	0	0	0	0	1	6774	883	31	1		1	GRIK2	6	102247636	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08	25835176	102247636	68867431	34	95503											
SLC2A12	154091	broad.mit.edu	37	chr6	134350402	134350402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaacattggcaaatgcGtaatttgaaatataggcaga	10	4	0	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr6:134350402G>A	uc003qem.1	-	2	732	c.561C>T	c.(559-561)TAC>TAT	p.Y187Y		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	187	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGGCAAATGCGTAATTTGAAA	0.428													A	134350402	G	A	134350402	2	1	177	1	0	0	0	0	0	0	0	1	14541	1140	40	1		1	SLC2A12	6	134350402	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	32102766	134350402	36764665	35	95504											
TXNDC3	51314	broad.mit.edu	37	chr7	37889997	37889997	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacagtcatcaataatcaAagcctgtgggatgagatgtt	10	7	3	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:37889997A>C	uc003tfn.2	+	4	423	c.51A>C	c.(49-51)CAA>CAC	p.Q17H		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	17	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCAATAATCAAAGCCTGTGGG	0.488									Kartagener_syndrome				C	37889997	A	C	37889997	3	2	177	1	0	0	0	0	1	0	0	0	16795	11	1	5	57	5	TXNDC3	7	37889997	Missense_Mutation	SNP	A	TCGA-CG-4462-01A-01D-1158-08		37889997	121248666	36	95505											
INHBA	3624	broad.mit.edu	37	chr7	41729393	41729393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaaggggctatggcccCgcatgcggtagtggttgatg	17	8	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:41729393C>T	uc003thq.2	-	2	1371	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	INHBA_uc003thr.2_Missense_Mutation_p.R379Q	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	379				RMR -> AC (in Ref. 7; CAA51163).	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			lung(5)|ovary(1)	6						GCTATGGCCCCGCATGCGGTA	0.537										TSP Lung(11;0.080)			T	41729393	C	T	41729393	3	4	177	1	0	0	0	0	1	0	0	0	7741	652	23	1	148	1	INHBA	7	41729393	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	3839396	41729393	117409270	37	95506											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757813	99757813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgtttcgctagggcctctCggcgagcccggagctcggcc	14	14	1	0	rs145166071		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:99757813C>T	uc003utt.2	-	3	2216	c.1199G>A	c.(1198-1200)CGA>CAA	p.R400Q	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R400Q|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R338Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	400	Lumenal (Potential).				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			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGGGCCTCTCGGCGAGCCCG	0.602													T	99757813	C	T	99757813	3	4	177	1	0	0	0	0	1	0	0	0	6200	884	31	1	265	1	GAL3ST4	7	99757813	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	58028420	99757813	59380850	38	95507											
PLXNA4	91584	broad.mit.edu	37	chr7	131831381	131831381	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctaggtgccacatcttgactCcactctccaggtcaggagtg	10	13	3	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:131831381C>G	uc003vra.3	-	28	5172	c.4943G>C	c.(4942-4944)GGA>GCA	p.G1648A	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1648	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CATCTTGACTCCACTCTCCAG	0.587													G	131831381	C	G	131831381	3	3	177	1	0	0	0	0	1	0	0	0	12122	855	30	5	761	5	PLXNA4	7	131831381	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	32073568	131831381	27307282	39	95508											
LRGUK	136332	broad.mit.edu	37	chr7	133933822	133933822	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatttggaccatatcctgAaaagaggtgagttgaggtgt	12	6	0	4			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:133933822A>G	uc003vrm.1	+	18	2208	c.2192A>G	c.(2191-2193)GAA>GGA	p.E731G		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	731							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						CCATATCCTGAAAAGAGGTGA	0.358													G	133933822	A	G	133933822	3	3	177	1	0	0	0	0	1	0	0	0	8943	246	9	3	2262	3	LRGUK	7	133933822	Missense_Mutation	SNP	A	TCGA-CG-4462-01A-01D-1158-08	2102441	133933822	25204841	40	95509											
PARP12	64761	broad.mit.edu	37	chr7	139726076	139726076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgtccacaaaaatggcGctggtgccgtggaacagctg	14	10	0	0	rs145495111		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr7:139726076G>A	uc003vvl.1	-	11	2575	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	PARP12_uc003vvk.1_Silent_p.S353S|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	567	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					CAAAAATGGCGCTGGTGCCGT	0.567													A	139726076	G	A	139726076	2	1	177	1	0	0	0	0	0	0	0	1	11457	1078	38	1		1	PARP12	7	139726076	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	5792254	139726076	19412587	41	95510											
CSMD1	64478	broad.mit.edu	37	chr8	2820779	2820779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctttccacaccccgCgaccttcacaggagaggatg	8	16	2	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:2820779C>T	uc011kwk.1	-	60	9812	c.9422G>A	c.(9421-9423)CGC>CAC	p.R3141H	CSMD1_uc011kwj.1_Missense_Mutation_p.R2470H|CSMD1_uc010lrg.2_Missense_Mutation_p.R1032H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3141	Sushi 25.|Extracellular (Potential).					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)		CCACACCCCGCGACCTTCACA	0.567													T	2820779	C	T	2820779	3	4	177	1	0	0	0	0	1	0	0	0	3944	768	27	1	1319	1	CSMD1	8	2820779	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		2820779	143543243	42	95511											
TEX15	56154	broad.mit.edu	37	chr8	30702128	30702129	+	Frame_Shift_Ins	INS	-	-	G													gtaaacagaatcttttgcttINStttccgcttgtttaactttc							TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:30702127_30702128T>TG	uc003xil.3	-	0	4406_4407	c.4406_4407A>CA	c.(4405-4407)aaafs	p.K1469fs		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1469										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)		AATCTTTTGCTTTTTCCGCTTG	0.342													G	30702129	-	G	30702128	7	5	177	1	0	1	1	0	0	0	0	0	15776	1841	64	0	3979	0	TEX15	8	30702128	Frame_Shift_Ins	INS	-	TCGA-CG-4462-01A-01D-1158-08	27881349	30702128	115661894	43	95512											
RIMS2	9699	broad.mit.edu	37	chr8	104898339	104898339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcataaatcaaagaaaggCggtaaaatgcgccagatttc	8	9	2	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:104898339C>T	uc003yls.2	+	2	1087	c.846C>T	c.(844-846)GGC>GGT	p.G282G	RIMS2_uc003ylp.2_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.2_Silent_p.G312G|RIMS2_uc003ylr.2_Silent_p.G312G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	535					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGAAAGGCGGTAAAATGC	0.433										HNSCC(12;0.0054)			T	104898339	C	T	104898339	2	4	177	1	0	0	0	0	0	0	0	1	13368	755	27	1		1	RIMS2	8	104898339	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08	74196211	104898339	41465683	44	95513											
COL14A1	7373	broad.mit.edu	37	chr8	121322263	121322263	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggtggtccaggactcCgaggaccaaagggccagcaa	15	12	0	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:121322263C>T	uc003yox.2	+	37	4682	c.4417C>T	c.(4417-4419)CGA>TGA	p.R1473*	COL14A1_uc003yoz.2_Nonsense_Mutation_p.R438*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1473	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TCCAGGACTCCGAGGACCAAA	0.338													T	121322263	C	T	121322263	4	4	177	1	0	0	0	0	0	1	0	0	3671	644	23	1	4559	1	COL14A1	8	121322263	Nonsense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	16423924	121322263	25041759	45	95514											
OC90	729330	broad.mit.edu	37	chr8	133036823	133036823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctgtggagggtcctcctCgctgtcctcctcagagctgg	12	15	1	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:133036823C>T	uc003ytg.2	-	13	1339	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	OC90_uc011lix.1_Missense_Mutation_p.E447K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	463					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGTCCTCCTCGCTGTCCTCC	0.647													T	133036823	C	T	133036823	3	4	177	1	0	0	0	0	1	0	0	0	10814	893	31	1	98	1	OC90	8	133036823	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	11714560	133036823	13327199	46	95515											
SLC45A4	57210	broad.mit.edu	37	chr8	142227211	142227211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaatagcaccagtggcGgcataaatgaccaggcccca	10	12	0	1	rs144829418	byFrequency	TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr8:142227211G>A	uc003ywd.1	-	5	1862	c.1554C>T	c.(1552-1554)GCC>GCT	p.A518A	SLC45A4_uc003ywc.1_Silent_p.A518A|SLC45A4_uc010meq.1_Silent_p.A516A	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	569	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	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)			CACCAGTGGCGGCATAAATGA	0.577													A	142227211	G	A	142227211	2	1	177	1	0	0	0	0	0	0	0	1	14643	1103	39	1		1	SLC45A4	8	142227211	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	9190388	142227211	4136811	47	95516											
PGM5	5239	broad.mit.edu	37	chr9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggggttggatcccaagaCgacatattatatcatgaggg	13	6	1	3			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr9:71098810C>T	uc004agr.2	+	9	1554	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					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			ovary(1)|pancreas(1)	2						GATCCCAAGACGACATATTAT	0.512													T	71098810	C	T	71098810	3	4	177	1	0	0	0	0	1	0	0	0	11801	536	19	1	1359	1	PGM5	9	71098810	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		71098810	70114621	48	95517											
FLJ46321	389763	broad.mit.edu	37	chr9	84608947	84608947	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgaaattttcccaccaAgaatatcagttcctcaagat	4	10	2	3			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr9:84608947A>C	uc004amn.2	+	4	3609	c.3562A>C	c.(3562-3564)AGA>CGA	p.R1188R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1188						integral to membrane					0						TTTCCCACCAAGAATATCAGT	0.413													C	84608947	A	C	84608947	2	2	177	1	0	0	0	0	0	0	0	1	5932	64	3	5		5	FLJ46321	9	84608947	Silent	SNP	A	TCGA-CG-4462-01A-01D-1158-08	13510137	84608947	56604484	49	95518											
ORM1	5004	broad.mit.edu	37	chr9	117087117	117087117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatcctcagggacaccAagacctacatgcttgctttt	8	12	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr9:117087117A>G	uc004bik.3	+	4	487	c.376A>G	c.(376-378)AAG>GAG	p.K126E	ORM1_uc011lxo.1_Missense_Mutation_p.K126E	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	126					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	CAGGGACACCAAGACCTACAT	0.532													G	117087117	A	G	117087117	3	3	177	1	0	0	0	0	1	0	0	0	11267	131	5	3	390	3	ORM1	9	117087117	Missense_Mutation	SNP	A	TCGA-CG-4462-01A-01D-1158-08	32478170	117087117	24126314	50	95519											
MYO3A	53904	broad.mit.edu	37	chr10	26457674	26457674	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatcacgtggagcagttaAatctaatgcgaaaggaagct	10	6	2	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr10:26457674A>C	uc001isn.2	+	28	3505	c.3145A>C	c.(3145-3147)AAT>CAT	p.N1049H	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1049					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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						GGAGCAGTTAAATCTAATGCG	0.353													C	26457674	A	C	26457674	3	2	177	1	0	0	0	0	1	0	0	0	10076	14	1	5	3247	5	MYO3A	10	26457674	Missense_Mutation	SNP	A	TCGA-CG-4462-01A-01D-1158-08		26457674	109077073	51	95520											
C11orf41	25758	broad.mit.edu	37	chr11	33667477	33667477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcacctgccctattcGgaggtggtgaccagcgctcc	12	16	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:33667477G>A	uc001mup.3	+	16	4906	c.4782G>A	c.(4780-4782)TCG>TCA	p.S1594S		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1588						integral to membrane				ovary(2)	2						TGCCCTATTCGGAGGTGGTGA	0.682													A	33667477	G	A	33667477	2	1	177	1	0	0	0	0	0	0	0	1	1640	1103	39	1		1	C11orf41	11	33667477	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08		33667477	101339039	52	95521											
BEST1	7439	broad.mit.edu	37	chr11	61729952	61729952	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttaggggccaggaagacaaCaaggcctggaagcttaaggc	15	8	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:61729952C>G	uc001nss.2	+	10	1906	c.1326C>G	c.(1324-1326)AAC>AAG	p.N442K	BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Missense_Mutation_p.N70K|BEST1_uc001nsr.2_Missense_Mutation_p.N382K|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.N382K|BEST1_uc001nst.2_Missense_Mutation_p.N355K|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Missense_Mutation_p.N336K	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	442	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1						AGGAAGACAACAAGGCCTGGA	0.587													G	61729952	C	G	61729952	3	3	177	1	0	0	0	0	1	0	0	0	1404	477	17	5	1360	5	BEST1	11	61729952	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	28062475	61729952	73276564	53	95522											
CCDC81	60494	broad.mit.edu	37	chr11	86123466	86123466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacggccactcagtcctgCgcttaatgctcttaagcaag	8	13	2	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:86123466C>T	uc001pbx.1	+	11	1684	c.1256C>T	c.(1255-1257)GCG>GTG	p.A419V	CCDC81_uc001pbw.1_Missense_Mutation_p.A329V|CCDC81_uc010rtq.1_Missense_Mutation_p.A202V|CCDC81_uc001pby.1_Missense_Mutation_p.A154V	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	419										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTCAGTCCTGCGCTTAATGCT	0.378													T	86123466	C	T	86123466	3	4	177	1	0	0	0	0	1	0	0	0	2855	768	27	1	1298	1	CCDC81	11	86123466	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	24393514	86123466	48883050	54	95523											
HINFP	25988	broad.mit.edu	37	chr11	119005167	119005167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggggcatcatggaaaagCttcaaggaatagctgaggag	15	6	2	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr11:119005167C>T	uc001pvp.2	+	11	1702	c.1513C>T	c.(1513-1515)CTT>TTT	p.L505F	HINFP_uc001pvq.2_Missense_Mutation_p.L505F|HINFP_uc001pvr.2_Missense_Mutation_p.L258F	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	505	Interaction with NPAT.				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			pancreas(2)|ovary(1)|skin(1)	4						CATGGAAAAGCTTCAAGGAAT	0.577											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	119005167	C	T	119005167	3	4	177	1	0	0	0	0	1	0	0	0	7110	797	28	2	1547	2	HINFP	11	119005167	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	32881701	119005167	16001349	55	95524											
RAD51AP1	10635	broad.mit.edu	37	chr12	4662198	4662198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagagtgaggataatgaCgaagacttctctatgagaaa	12	4	1	5			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:4662198C>T	uc001qmw.2	+	8	813	c.657C>T	c.(655-657)GAC>GAT	p.D219D	RAD51AP1_uc001qmu.2_Silent_p.D202D|RAD51AP1_uc001qmv.2_Silent_p.D165D|RAD51AP1_uc010sep.1_Silent_p.D84D|RAD51AP1_uc010seq.1_Silent_p.D84D|RAD51AP1_uc009zeg.2_RNA	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	219					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGGATAATGACGAAGACTTCT	0.313													T	4662198	C	T	4662198	2	4	177	1	0	0	0	0	0	0	0	1	12986	535	19	1		1	RAD51AP1	12	4662198	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08		4662198	129189697	56	95525											
NCAPD2	9918	broad.mit.edu	37	chr12	6637448	6637448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactggggatctggccatcCgctttcccaatctggtggac	11	14	2	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:6637448C>T	uc001qoo.2	+	25	3299	c.3253C>T	c.(3253-3255)CGC>TGC	p.R1085C	NCAPD2_uc009zen.1_Missense_Mutation_p.R957C|NCAPD2_uc010sfd.1_Missense_Mutation_p.R1040C	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1085					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						TCTGGCCATCCGCTTTCCCAA	0.572													T	6637448	C	T	6637448	3	4	177	1	0	0	0	0	1	0	0	0	10205	652	23	1	3347	1	NCAPD2	12	6637448	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	1975250	6637448	127214447	57	95526											
PZP	5858	broad.mit.edu	37	chr12	9344831	9344831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgggttccagatctgaCgatgactcccttagccatga	11	10	1	4			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:9344831C>T	uc001qvl.2	-	13	1533	c.1504G>A	c.(1504-1506)GTC>ATC	p.V502I	PZP_uc009zgl.2_Missense_Mutation_p.V371I	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CCAGATCTGACGATGACTCCC	0.478													T	9344831	C	T	9344831	3	4	177	1	0	0	0	0	1	0	0	0	12869	536	19	1	3040	1	PZP	12	9344831	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	2707383	9344831	124507064	58	95527											
FAM186B	84070	broad.mit.edu	37	chr12	49993507	49993507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccttcggatggatgtcCcagtgacaggaaaggaggca	14	9	1	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:49993507C>T	uc001ruo.2	-	4	2089	c.1916G>A	c.(1915-1917)GGG>GAG	p.G639E	FAM186B_uc010smk.1_Missense_Mutation_p.G549E	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	639						protein complex				ovary(1)	1						GATGGATGTCCCAGTGACAGG	0.522													T	49993507	C	T	49993507	3	4	177	1	0	0	0	0	1	0	0	0	5512	623	22	4	781	4	FAM186B	12	49993507	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	40648676	49993507	83858388	59	95528											
TBX5	6910	broad.mit.edu	37	chr12	114841689	114841689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccaggccaaagccctcGtctgcgtcggccatggtgcg	14	15	1	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr12:114841689G>A	uc001tvo.2	-	2	510	c.15C>T	c.(13-15)GAC>GAT	p.D5D	TBX5_uc001tvp.2_Silent_p.D5D|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Silent_p.D5D	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	5					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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAAAGCCCTCGTCTGCGTCGG	0.677													A	114841689	G	A	114841689	2	1	177	1	0	0	0	0	0	0	0	1	15658	1136	40	1		1	TBX5	12	114841689	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	64848182	114841689	19010206	60	95529											
COG3	83548	broad.mit.edu	37	chr13	46090314	46090314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttttcttaattaagcacCttttgatacttcgtgaacaa	4	8	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr13:46090314C>T	uc001vak.2	+	17	1947	c.1846C>T	c.(1846-1848)CTT>TTT	p.L616F	COG3_uc010tfv.1_Missense_Mutation_p.L453F|COG3_uc010aci.2_Missense_Mutation_p.L392F	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	616					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		AATTAAGCACCTTTTGATACT	0.333													T	46090314	C	T	46090314	3	4	177	1	0	0	0	0	1	0	0	0	3659	681	24	4	1912	4	COG3	13	46090314	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		46090314	69079564	61	95530											
SLITRK5	26050	broad.mit.edu	37	chr13	88328449	88328449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgtgagacccccttccGcttacacggaagggacttgg	12	11	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr13:88328449G>A	uc001vln.2	+	2	1025	c.806G>A	c.(805-807)CGC>CAC	p.R269H	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	269	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCCCCTTCCGCTTACACGGA	0.517													A	88328449	G	A	88328449	3	1	177	1	0	0	0	0	1	0	0	0	14746	1087	38	1	808	1	SLITRK5	13	88328449	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	42238135	88328449	26841429	62	95531											
TTLL5	23093	broad.mit.edu	37	chr14	76147917	76147917	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcttataagattgtaCgaacggacagtcgcctagta	9	7	1	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:76147917C>T	uc001xrx.2	+	4	416	c.211C>T	c.(211-213)CGA>TGA	p.R71*	TTLL5_uc001xrw.1_Nonsense_Mutation_p.R71*|TTLL5_uc010ask.1_Nonsense_Mutation_p.R71*|TTLL5_uc001xrv.2_Nonsense_Mutation_p.R71*	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	71	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TAAGATTGTACGAACGGACAG	0.343													T	76147917	C	T	76147917	4	4	177	1	0	0	0	0	0	1	0	0	16727	528	19	1	221	1	TTLL5	14	76147917	Nonsense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		76147917	31201623	63	95532											
C14orf145	145508	broad.mit.edu	37	chr14	81209494	81209494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagacactgcaactcagAttccttgttttcagtcaaat	6	9	3	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:81209494A>G	uc001xux.2	-	18	2902	c.2731T>C	c.(2731-2733)TCT>CCT	p.S911P	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	911	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TGCAACTCAGATTCCTTGTTT	0.423													G	81209494	A	G	81209494	3	3	177	1	0	0	0	0	1	0	0	0	1749	333	12	3	581	3	C14orf145	14	81209494	Missense_Mutation	SNP	A	TCGA-CG-4462-01A-01D-1158-08	5061577	81209494	26140046	64	95533											
EML1	2009	broad.mit.edu	37	chr14	100377910	100377910	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcaaaaacttcgtaaaacGgaggtaagtcatcaaggcta	8	7	3	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:100377910G>T	uc001ygs.2	+	13	1560	c.1491G>T	c.(1489-1491)ACG>ACT	p.T497T	EML1_uc010tww.1_Silent_p.T485T|EML1_uc001ygq.2_Silent_p.T516T|EML1_uc001ygr.2_Silent_p.T516T	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	497	WD 5.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCGTAAAACGGAGGTAAGTC	0.358													T	100377910	G	T	100377910	2	4	177	1	0	0	0	0	0	0	0	1	5096	1103	39	5		5	EML1	14	100377910	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	19168416	100377910	6971630	65	95534											
TECPR2	9895	broad.mit.edu	37	chr14	102906877	102906877	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgaagccctgccccaggcaGtgtttgtggccctgagcgat	13	13	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:102906877G>C	uc001ylw.1	+	11	2831	c.2683G>C	c.(2683-2685)GTG>CTG	p.V895L	TECPR2_uc010awl.2_Missense_Mutation_p.V895L|TECPR2_uc010txx.1_Missense_Mutation_p.V58L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	895							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GCCCCAGGCAGTGTTTGTGGC	0.572													C	102906877	G	C	102906877	3	2	177	1	0	0	0	0	1	0	0	0	15741	1029	36	5	2721	5	TECPR2	14	102906877	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	2528967	102906877	4442663	66	95535											
PPP1R13B	23368	broad.mit.edu	37	chr14	104212794	104212794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcacaggaaagcttcCggcactgggaacctggatat	11	13	0	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr14:104212794C>T	uc001yof.1	-	9	1349	c.1066G>A	c.(1066-1068)GGA>AGA	p.G356R	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.G223R	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	356					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAAAGCTTCCGGCACTGGGA	0.572													T	104212794	C	T	104212794	3	4	177	1	0	0	0	0	1	0	0	0	12357	661	23	1	2242	1	PPP1R13B	14	104212794	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	1305917	104212794	3136746	67	95536											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118709	68118709	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcccgagaacttcgccttCgatgtggtgcacgagtgcgc	13	13	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr15:68118709C>T	uc002aqy.1	+	2	516	c.516C>T	c.(514-516)TTC>TTT	p.F172F		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	181					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						ACTTCGCCTTCGATGTGGTGC	0.622													T	68118709	C	T	68118709	2	4	177	1	0	0	0	0	0	0	0	1	8655	883	31	1		1	LBXCOR1	15	68118709	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08		68118709	34412683	68	95537											
EFTUD1	79631	broad.mit.edu	37	chr15	82532780	82532780	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttctaaaatattcttgagGtgagaataggcctcttgtgg	11	5	3	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr15:82532780G>C	uc002bgt.1	-	6	664	c.495C>G	c.(493-495)CAC>CAG	p.H165Q	EFTUD1_uc002bgu.1_Missense_Mutation_p.H114Q	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	165					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TATTCTTGAGGTGAGAATAGG	0.368													C	82532780	G	C	82532780	3	2	177	1	0	0	0	0	1	0	0	0	4960	1252	44	5	2927	5	EFTUD1	15	82532780	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	14414071	82532780	19998612	69	95538											
FHOD1	29109	broad.mit.edu	37	chr16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggtcttgttgcgctcaCggtatgtggcctgcttctgc	13	13	3	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr16:67264254C>T	uc002esl.2	-	19	3126	c.3014G>A	c.(3013-3015)CGT>CAT	p.R1005H	FHOD1_uc002esk.2_Missense_Mutation_p.R64H|FHOD1_uc010ced.2_Missense_Mutation_p.R812H	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1005	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTGCGCTCACGGTATGTGGC	0.592													T	67264254	C	T	67264254	3	4	177	1	0	0	0	0	1	0	0	0	5882	536	19	1	496	1	FHOD1	16	67264254	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		67264254	23090499	70	95539											
PHLPP2	23035	broad.mit.edu	37	chr16	71715755	71715755	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagaagagatgctcaggaacCtcctcgaggctgtaacacga	11	10	1	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr16:71715755C>G	uc002fax.2	-	5	795	c.789G>C	c.(787-789)GAG>GAC	p.E263D	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.E263D|PHLPP2_uc002fay.1_Missense_Mutation_p.E263D	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	263	LRR 1.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GCTCAGGAACCTCCTCGAGGC	0.478													G	71715755	C	G	71715755	3	3	177	1	0	0	0	0	1	0	0	0	11855	680	24	5	3238	5	PHLPP2	16	71715755	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	4451501	71715755	18638998	71	95540											
CNTNAP4	85445	broad.mit.edu	37	chr16	76389294	76389294	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagagagaatggaggtcacCgctgtggccactcaaggggg	18	8	2	2	rs138220882		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr16:76389294C>A	uc002feu.1	+	5	661	c.276C>A	c.(274-276)ACC>ACA	p.T92T	CNTNAP4_uc002fev.1_Silent_p.T4T|CNTNAP4_uc010chb.1_Silent_p.T67T|CNTNAP4_uc002fex.1_Silent_p.T95T|CNTNAP4_uc002few.2_Silent_p.T67T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	92	Extracellular (Potential).|F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TGGAGGTCACCGCTGTGGCCA	0.483													A	76389294	C	A	76389294	2	1	177	1	0	0	0	0	0	0	0	1	3649	639	23	5		5	CNTNAP4	16	76389294	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08	4673539	76389294	13965459	72	95541											
L3MBTL4	91133	broad.mit.edu	37	chr18	6046733	6046733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatacaacttacccaaacCtctgggatgcagcacaagca	8	12	1	1	rs12958879		TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr18:6046733C>T	uc002kmz.3	-	17	1625	c.1465G>A	c.(1465-1467)GGT>AGT	p.G489S	L3MBTL4_uc010dkt.2_Missense_Mutation_p.G489S|L3MBTL4_uc002kmy.3_Intron	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	489					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				ttacccaaacctctgggatgc	0													T	6046733	C	T	6046733	3	4	177	1	0	0	0	0	1	0	0	0	8594	681	24	4	422	4	L3MBTL4	18	6046733	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		6046733	72030515	73	95542											
SMAD2	4087	broad.mit.edu	37	chr18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaagctttatgacatgcttGagcaacgcactgaaggggat	12	7	0	4			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr18:45368211G>C	uc002lcy.2	-	11	1639	c.1391C>G	c.(1390-1392)TCA>TGA	p.S464*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.S464*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.S434*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	464	MH2.			S->A: Loss of phosphorylation by TGFBR1; when associated with A-465 and A-467.	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	p.R462fs*>4(1)		large_intestine(3)|lung(1)|central_nervous_system(1)	5						TGACATGCTTGAGCAACGCAC	0.423													C	45368211	G	C	45368211	4	2	177	1	0	0	0	0	0	1	0	0	14758	1294	45	5	16	5	SMAD2	18	45368211	Nonsense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	39321478	45368211	32709037	74	95543											
SALL3	27164	broad.mit.edu	37	chr18	76755232	76755232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcgagggtcccccgctgCccgcgggcgtccaggtcccc	16	18	0	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr18:76755232C>T	uc002lmt.2	+	2	3241	c.3241C>T	c.(3241-3243)CCC>TCC	p.P1081S	SALL3_uc010dra.2_Missense_Mutation_p.P616S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		TCCCCCGCTGCCCGCGGGCGT	0.706													T	76755232	C	T	76755232	3	4	177	1	0	0	0	0	1	0	0	0	13812	739	26	2	3247	2	SALL3	18	76755232	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	31387021	76755232	1322016	75	95544											
ICAM5	7087	broad.mit.edu	37	chr19	10401793	10401793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcagcctcgcgtggCgttcgtggagcgcgggggct	19	12	0	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr19:10401793C>T	uc002mnu.3	+	2	193	c.128C>T	c.(127-129)GCG>GTG	p.A43V	ICAM5_uc002mnv.3_5'Flank	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	43	Extracellular (Potential).				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTCGCGTGGCGTTCGTGGAG	0.701													T	10401793	C	T	10401793	3	4	177	1	0	0	0	0	1	0	0	0	7483	768	27	1	134	1	ICAM5	19	10401793	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		10401793	48727190	76	95545											
CILP2	148113	broad.mit.edu	37	chr19	19656264	19656264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacccgcggccagctctaCggacttcgggatgcccggag	14	16	1	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr19:19656264C>T	uc002nmv.3	+	8	2995	c.2910C>T	c.(2908-2910)TAC>TAT	p.Y970Y	CILP2_uc002nmw.3_Silent_p.Y976Y	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	970						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCAGCTCTACGGACTTCGGG	0.677													T	19656264	C	T	19656264	2	4	177	1	0	0	0	0	0	0	0	1	3430	547	19	1		1	CILP2	19	19656264	Silent	SNP	C	TCGA-CG-4462-01A-01D-1158-08	9254471	19656264	39472719	77	95546											
SIGLEC12	89858	broad.mit.edu	37	chr19	52001483	52001483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgacagcacagacaagGtgcagggactggccctccag	13	13	0	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr19:52001483G>T	uc002pwx.1	-	5	1250	c.1194C>A	c.(1192-1194)CAC>CAA	p.H398Q	SIGLEC12_uc002pww.1_Missense_Mutation_p.H280Q|SIGLEC12_uc010eoy.1_Missense_Mutation_p.H125Q	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	398	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACAGACAAGGTGCAGGGACT	0.512													T	52001483	G	T	52001483	3	4	177	1	0	0	0	0	1	0	0	0	14308	1252	44	5	609	5	SIGLEC12	19	52001483	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	32345219	52001483	7127500	78	95547											
TMC2	117532	broad.mit.edu	37	chr20	2591146	2591146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggagaattaccacccaCgcactggactgaagtggcag	11	13	0	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr20:2591146C>T	uc002wgf.1	+	12	1510	c.1495C>T	c.(1495-1497)CGC>TGC	p.R499C	TMC2_uc002wgg.1_Missense_Mutation_p.R483C|TMC2_uc010zpw.1_Missense_Mutation_p.R331C|TMC2_uc010zpx.1_Missense_Mutation_p.R330C	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	499	Extracellular (Potential).					integral to membrane				ovary(3)	3						TTACCACCCACGCACTGGACT	0.532													T	2591146	C	T	2591146	3	4	177	1	0	0	0	0	1	0	0	0	15982	536	19	1	1541	1	TMC2	20	2591146	Missense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08		2591146	60434374	79	95548											
SETD4	54093	broad.mit.edu	37	chr21	37416162	37416162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgttgattatcgtgaggGccgtaacagatgaatacctc	11	9	0	4			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chr21:37416162G>A	uc002yuw.1	-	6	2192	c.819C>T	c.(817-819)GGC>GGT	p.G273G	SETD4_uc002yux.1_Silent_p.G249G|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Silent_p.G273G|SETD4_uc002yuy.2_Silent_p.G273G|SETD4_uc002yuz.2_Silent_p.G249G|SETD4_uc002yva.2_Silent_p.G249G	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	273	SET.									large_intestine(1)|ovary(1)	2						TATCGTGAGGGCCGTAACAGA	0.398													A	37416162	G	A	37416162	2	1	177	1	0	0	0	0	0	0	0	1	14133	1190	42	2		2	SETD4	21	37416162	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08		37416162	10713733	80	95549											
MAGEB18	286514	broad.mit.edu	37	chrX	26157454	26157454	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtcgctggtgcatttcTtgcttcagaagtatgaaacg	11	7	2	2			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:26157454T>G	uc004dbq.1	+	2	539	c.352T>G	c.(352-354)TTG>GTG	p.L118V		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	118	MAGE.						protein binding			central_nervous_system(1)	1						GGTGCATTTCTTGCTTCAGAA	0.418													G	26157454	T	G	26157454	3	3	177	1	0	0	0	0	1	0	0	0	9175	1606	56	5	354	5	MAGEB18	23	26157454	Missense_Mutation	SNP	T	TCGA-CG-4462-01A-01D-1158-08		26157454	129113106	81	95550											
ATP6AP2	10159	broad.mit.edu	37	chrX	40464996	40464996	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgacaaaccagaagattCgaatggattgaatgttacct	10	6	0	4			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:40464996C>T	uc004det.2	+	9	1144	c.1042C>T	c.(1042-1044)CGA>TGA	p.R348*	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Nonsense_Mutation_p.R272*|ATP6AP2_uc011mkm.1_Nonsense_Mutation_p.R316*|ATP6AP2_uc011mkn.1_Nonsense_Mutation_p.R270*|ATP6AP2_uc004deu.1_Nonsense_Mutation_p.R212*	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	348	Cytoplasmic (Potential).				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				0						CCAGAAGATTCGAATGGATTG	0.368													T	40464996	C	T	40464996	4	4	177	1	0	0	0	0	0	1	0	0	1167	876	31	1	1076	1	ATP6AP2	23	40464996	Nonsense_Mutation	SNP	C	TCGA-CG-4462-01A-01D-1158-08	14307542	40464996	114805564	82	95551											
PHKA1	5255	broad.mit.edu	37	chrX	71895995	71895995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccacgttcccatatcccGaagtcctggcataaaataac	5	14	1	0			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:71895995G>A	uc004eax.3	-	6	844	c.543C>T	c.(541-543)TTC>TTT	p.F181F	PHKA1_uc004eay.3_Silent_p.F181F|PHKA1_uc011mqi.1_Silent_p.F181F	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	181					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CCCATATCCCGAAGTCCTGGC	0.398													A	71895995	G	A	71895995	2	1	177	1	0	0	0	0	0	0	0	1	11843	1049	37	1		1	PHKA1	23	71895995	Silent	SNP	G	TCGA-CG-4462-01A-01D-1158-08	31430999	71895995	83374565	83	95552											
NOX1	27035	broad.mit.edu	37	chrX	100125713	100125713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgtgatactcaccccaaGgatttttcttgtgtagtagt	8	9	2	1			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:100125713G>A	uc004egj.2	-	2	342	c.136C>T	c.(136-138)CTT>TTT	p.L46F	uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.L46F|NOX1_uc010nne.2_Missense_Mutation_p.L46F	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	46	Helical; (Potential).				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			ovary(1)	1						CTCACCCCAAGGATTTTTCTT	0.423													A	100125713	G	A	100125713	3	1	177	1	0	0	0	0	1	0	0	0	10556	1000	35	4	1606	4	NOX1	23	100125713	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	28229718	100125713	55144847	84	95553											
SLC25A5	292	broad.mit.edu	37	chrX	118604441	118604441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatccatttgacactgttcGccgccgcatgatgatgcagt	9	12	0	3			TCGA-CG-4462-01A-01D-1158-08	TCGA-CG-4462-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e84522-a623-4c24-b486-1f3aaea36714	fbcc8c24-1ed2-469f-ad78-e1fa8555d067	g.chrX:118604441G>A	uc004erh.3	+	3	820	c.704G>A	c.(703-705)CGC>CAC	p.R235H	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	235	Helical; Name=5; (By similarity).|Substrate recognition (By similarity).|Solcar 3.				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	GACACTGTTCGCCGCCGCATG	0.517													A	118604441	G	A	118604441	3	1	177	1	0	0	0	0	1	0	0	0	14512	1087	38	1	714	1	SLC25A5	23	118604441	Missense_Mutation	SNP	G	TCGA-CG-4462-01A-01D-1158-08	18478728	118604441	36666119	85	95554											
NOC2L	26155	broad.mit.edu	37	chr1	887854	887854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggatgtagaggaaggCgtgctggtaggccacacccg	17	10	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:887854C>T	uc001abz.3	-	10	1188	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	NOC2L_uc001aby.3_Missense_Mutation_p.A174T|NOC2L_uc009vjq.2_Missense_Mutation_p.A377T	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	377						nucleolus	protein binding			ovary(1)|skin(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;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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TAGAGGAAGGCGTGCTGGTAG	0.627													T	887854	C	T	887854	3	4	178	1	0	0	0	0	1	0	0	0	10513	768	27	1	1160	1	NOC2L	1	887854	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08		887854	248362767	1	95555											
KLHL17	339451	broad.mit.edu	37	chr1	899343	899343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaacgtggacgtccgtcGctgccatgagcacccggagg	15	14	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:899343G>A	uc001aca.1	+	9	1506	c.1399G>A	c.(1399-1401)GCT>ACT	p.A467T	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	467	Interaction with F-actin (By similarity).|Kelch 3.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	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)		GACGTCCGTCGCTGCCATGAG	0.687													A	899343	G	A	899343	3	1	178	1	0	0	0	0	1	0	0	0	8372	1087	38	1	1433	1	KLHL17	1	899343	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	11489	899343	248351278	2	95556											
AGRN	375790	broad.mit.edu	37	chr1	980540	980540	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgtaccctttcctgcaGgccccaccttcgccccgctg	8	21	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:980540G>T	uc001ack.1	+	13	2305	c.2255_splice	c.e13-1	p.G752_splice		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor						axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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;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)		CTTTCCTGCAGGCCCCACCTT	0.667													T	980540	G	T	980540	5	4	178	1	0	0	0	0	0	0	1	0	397	1014	35	5	2304	5	AGRN	1	980540	Splice_Site	SNP	G	TCGA-CG-4465-01A-01D-1158-08	81197	980540	248270081	3	95557											
WDR8	49856	broad.mit.edu	37	chr1	3551767	3551767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaactgactgctggggCtccaggccacagacttgatg	13	12	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:3551767C>T	uc001ako.2	-	7	803	c.695G>A	c.(694-696)AGC>AAC	p.S232N	WDR8_uc001akn.3_Missense_Mutation_p.S232N|WDR8_uc010nzi.1_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	232	WD 4.					centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|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;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACTGCTGGGGCTCCAGGCCAC	0.602													T	3551767	C	T	3551767	3	4	178	1	0	0	0	0	1	0	0	0	17326	797	28	2	711	2	WDR8	1	3551767	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2571227	3551767	245698854	4	95558											
RERE	473	broad.mit.edu	37	chr1	8418331	8418331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgatggtgcggagtcaCgttgaacatctgcagtcggg	16	8	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:8418331C>T	uc001ape.2	-	21	5074	c.4264G>A	c.(4264-4266)GTG>ATG	p.V1422M	RERE_uc001apf.2_Missense_Mutation_p.V1422M|RERE_uc001apd.2_Missense_Mutation_p.V868M	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1422					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			ovary(1)|central_nervous_system(1)	2	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)		tgCGGAGTCACGTTGAACATC	0.438													T	8418331	C	T	8418331	3	4	178	1	0	0	0	0	1	0	0	0	13231	536	19	1	452	1	RERE	1	8418331	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4866564	8418331	240832290	5	95559											
PIK3CD	5293	broad.mit.edu	37	chr1	9784908	9784908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccatcctgcggcgccacGggcttctcttcctccacctc	7	20	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:9784908G>A	uc001aqb.3	+	23	3119	c.2911G>A	c.(2911-2913)GGG>AGG	p.G971R	PIK3CD_uc010oaf.1_Missense_Mutation_p.G970R|PIK3CD_uc001aqe.3_Missense_Mutation_p.G995R	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	971	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			lung(4)|skin(2)|central_nervous_system(1)	7	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)		GCGGCGCCACGGGCTTCTCTT	0.622											OREG0013083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	9784908	G	A	9784908	3	1	178	1	0	0	0	0	1	0	0	0	11915	1116	39	1	2993	1	PIK3CD	1	9784908	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1366577	9784908	239465713	6	95560											
LZIC	84328	broad.mit.edu	37	chr1	9990460	9990460	+	Frame_Shift_Del	DEL	T	T	-													caagcttctgcaccatgtcaTttttttgttttttcaacctc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:9990459_9990459AT>A	uc010oah.2	-	7	702	c.634_634AT>T	c.(634-636)tgafs	p.*212fs	LZIC_uc001aqm.3_Frame_Shift_Del_p.*191fs|LZIC_uc001aqo.3_Frame_Shift_Del_p.*191fs|LZIC_uc009vmr.3_Frame_Shift_Del_p.*191fs	NM_032368	NP_115744	Q8WZA0	LZIC_HUMAN	Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA.	0							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)		GCACCATGTCATTTTTTTGTT	0.333													-	9990460	T	-	9990460	7	5	178	1	0	1	0	1	0	0	0	0	9135	1490	52	0	6	0	LZIC	1	9990460	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	205552	9990460	239260161	7	95561											
KIF1B	23095	broad.mit.edu	37	chr1	10356694	10356694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctacgtaaatggcaagaGggtgtcccagcctgttcagc	11	11	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:10356694G>A	uc001aqx.3	+	20	2034	c.1832G>A	c.(1831-1833)AGG>AAG	p.R611K	KIF1B_uc001aqv.3_Missense_Mutation_p.R565K|KIF1B_uc001aqw.3_Missense_Mutation_p.R565K|KIF1B_uc001aqy.2_Missense_Mutation_p.R585K|KIF1B_uc001aqz.2_Missense_Mutation_p.R611K|KIF1B_uc001ara.2_Missense_Mutation_p.R571K|KIF1B_uc001arb.2_Missense_Mutation_p.R597K	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	611	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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		AATGGCAAGAGGGTGTCCCAG	0.463													A	10356694	G	A	10356694	3	1	178	1	0	0	0	0	1	0	0	0	8284	1000	35	4	1760	4	KIF1B	1	10356694	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	366234	10356694	238893927	8	95562											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534699	16534699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccggggacctcttcacgcTggtacacccgcatcttgcgc	11	16	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:16534699T>C	uc001ayc.1	-	3	571	c.434A>G	c.(433-435)CAG>CGG	p.Q145R	ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	145					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		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)		CTCTTCACGCTGGTACACCCG	0.682													C	16534699	T	C	16534699	3	2	178	1	0	0	0	0	1	0	0	0	902	1580	55	3	2030	3	ARHGEF19	1	16534699	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	6178005	16534699	232715922	9	95563											
ATP13A2	23400	broad.mit.edu	37	chr1	17313329	17313329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcggccggcggaagggcGcccccttggacacggctgca	17	14	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:17313329G>A	uc001baa.2	-	27	3396	c.3206C>T	c.(3205-3207)GCG>GTG	p.A1069V	ATP13A2_uc001azz.1_Missense_Mutation_p.A216V|ATP13A2_uc001bab.2_Missense_Mutation_p.A1064V|ATP13A2_uc001bac.2_Missense_Mutation_p.A1025V	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1069	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		GCGGAAGGGCGCCCCCTTGGA	0.677													A	17313329	G	A	17313329	3	1	178	1	0	0	0	0	1	0	0	0	1124	1087	38	1	584	1	ATP13A2	1	17313329	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	778630	17313329	231937292	10	95564											
EIF4G3	8672	broad.mit.edu	37	chr1	21268826	21268827	+	Splice_Site	INS	-	-	G													tggttttggcttctcctctgINSgggaaaaaaaaataagtttt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:21268825_21268826T>TG	uc001bec.3	-	9	912	c.656_splice	c.e9-1	p.E219_splice	EIF4G3_uc010odi.2_Splice_Site|EIF4G3_uc010odj.2_Splice_Site_p.E218_splice|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Splice_Site_p.E218_splice|EIF4G3_uc001bee.3_Splice_Site_p.E225_splice|EIF4G3_uc001beg.3_Splice_Site_p.E218_splice|EIF4G3_uc010odk.2_Splice_Site_p.E219_splice|EIF4G3_uc001beh.3_Splice_Site_p.E230_splice	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	219					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein 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)		GCTTCTCCTCTGGGGAAAAAAA	0.411													G	21268827	-	G	21268826	8	5	178	1	0	1	1	0	0	0	1	0	5038	1363	47	0		0	EIF4G3	1	21268826	Splice_Site	INS	-	TCGA-CG-4465-01A-01D-1158-08	3955497	21268826	227981795	11	95565											
EIF4G3	8672	broad.mit.edu	37	chr1	21306905	21306905	+	Frame_Shift_Del	DEL	G	G	-													tggttgaactggatattgttGggggggcccaacataaggag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:21306904_21306904TG>T	uc001bec.3	-	4	504	c.248_248CA>A	c.(247-249)caafs	p.Q83fs	EIF4G3_uc010odj.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.Q90fs|EIF4G3_uc001beg.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc010odk.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001beh.3_Frame_Shift_Del_p.Q94fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	83					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity	p.P82R(1)		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)		TGGATATTGTTGGGGGGGCCC	0.443													-	21306905	G	-	21306905	7	5	178	1	0	1	0	1	0	0	0	0	5038	1357	47	0	4622	0	EIF4G3	1	21306905	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	38079	21306905	227943716	12	95566											
ECE1	1889	broad.mit.edu	37	chr1	21551931	21551931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtccttgtcatactcccGtcctgtgggtcagagggagg	13	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:21551931G>A	uc001bek.2	-	17	1927	c.1852C>T	c.(1852-1854)CGG>TGG	p.R618W	ECE1_uc001bem.2_Missense_Mutation_p.R602W|ECE1_uc001bej.2_Missense_Mutation_p.R606W|ECE1_uc001bei.2_Missense_Mutation_p.R615W|ECE1_uc010odl.1_Missense_Mutation_p.R618W	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	618	Extracellular (Potential).				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			ovary(2)|skin(1)	3		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)		TCATACTCCCGTCCTGTGGGT	0.607													A	21551931	G	A	21551931	3	1	178	1	0	0	0	0	1	0	0	0	4889	1144	40	1	472	1	ECE1	1	21551931	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	245026	21551931	227698690	13	95567											
HSPG2	3339	broad.mit.edu	37	chr1	22155944	22155944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacacgaagtcctccacaGgcccgctcttccccccgctg	10	19	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:22155944G>T	uc001bfj.2	-	87	11964	c.11924C>A	c.(11923-11925)CCT>CAT	p.P3975H	HSPG2_uc001bfi.2_Translation_Start_Site|HSPG2_uc009vqd.2_Missense_Mutation_p.P3976H	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3975	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	GTCCTCCACAGGCCCGCTCTT	0.657													T	22155944	G	T	22155944	3	4	178	1	0	0	0	0	1	0	0	0	7430	1000	35	5	1295	5	HSPG2	1	22155944	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	604013	22155944	227094677	14	95568											
HSPG2	3339	broad.mit.edu	37	chr1	22176578	22176578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgcttgtgccacgtgaCctgggcatgggcctgaccag	14	15	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:22176578C>T	uc001bfj.2	-	57	7442	c.7402G>A	c.(7402-7404)GTC>ATC	p.V2468I	HSPG2_uc009vqd.2_Missense_Mutation_p.V2469I	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2468	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	TGCCACGTGACCTGGGCATGG	0.662													T	22176578	C	T	22176578	3	4	178	1	0	0	0	0	1	0	0	0	7430	507	18	4	5937	4	HSPG2	1	22176578	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	20634	22176578	227074043	15	95569											
EPHA8	2046	broad.mit.edu	37	chr1	22903024	22903024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcttcacaggtgccgaCcttggtgtgcggcgtctcaa	14	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:22903024C>T	uc001bfx.1	+	3	599	c.474C>T	c.(472-474)GAC>GAT	p.D158D	EPHA8_uc001bfw.2_Silent_p.D158D	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	158	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		CAGGTGCCGACCTTGGTGTGC	0.622													T	22903024	C	T	22903024	2	4	178	1	0	0	0	0	0	0	0	1	5173	506	18	4		4	EPHA8	1	22903024	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	726446	22903024	226347597	16	95570											
TMEM57	55219	broad.mit.edu	37	chr1	25818035	25818035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagctggacctgttctcCgcactgggcgatgcaaagcg	12	12	2	0	rs149775144	by1000genomes	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:25818035C>T	uc001bkk.2	+	10	1954	c.1752C>T	c.(1750-1752)TCC>TCT	p.S584S	TMEM57_uc009vru.2_Silent_p.S357S|TMEM57_uc009vrv.2_Silent_p.S226S	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	584						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGTTCTCCGCACTGGGCG	0.552													T	25818035	C	T	25818035	2	4	178	1	0	0	0	0	0	0	0	1	16181	639	23	1		1	TMEM57	1	25818035	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2915011	25818035	223432586	17	95571											
ARID1A	8289	broad.mit.edu	37	chr1	27088682	27088682	+	Frame_Shift_Del	DEL	C	C	-													ccagatgccccagtacagttCcccccagcccggctcagcct							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:27088682delC	uc001bmv.1	+	7	2664	c.2291delC	c.(2290-2292)TCCfs	p.S764fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S764fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S764fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S381fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	764					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.Q766fs*67(1)|p.Q766fs*51(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CAGTACAGTTCCCCCCAGCCC	0.522			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27088682	C	-	27088682	7	5	178	1	0	1	0	1	0	0	0	0	913	855	30	0	2317	0	ARID1A	1	27088682	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	1270647	27088682	222161939	18	95572											
GJB4	127534	broad.mit.edu	37	chr1	35227149	35227149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcacgtggcctaccgCgaggaacgcgagcgcaagca	14	13	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:35227149C>T	uc001bxv.1	+	2	664	c.294C>T	c.(292-294)CGC>CGT	p.R98R	GJB4_uc001bxw.3_Silent_p.R98R	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	98	Helical; (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGCCTACCGCGAGGAACGCG	0.637													T	35227149	C	T	35227149	2	4	178	1	0	0	0	0	0	0	0	1	6410	755	27	1		1	GJB4	1	35227149	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	8138467	35227149	214023472	19	95573											
GJB3	2707	broad.mit.edu	37	chr1	35250494	35250494	+	Frame_Shift_Del	DEL	G	G	-													ggtggctgcagagcgcgtgtGgggggatgagcagaaggact							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:35250493_35250493TG>T	uc001bxz.4	+	0	130	c.130_130TG>T	c.(130-132)tggfs	p.W44fs	GJB3_uc001bxx.3_Frame_Shift_Del_p.W44fs|GJB3_uc001bxy.3_Frame_Shift_Del_p.W44fs	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	44					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)				AGAGCGCGTGTGGGGGGATGA	0.597													-	35250494	G	-	35250494	7	5	178	1	0	1	0	1	0	0	0	0	6409	1357	47	0	133	0	GJB3	1	35250494	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	23345	35250494	214000127	20	95574											
GRIK3	2899	broad.mit.edu	37	chr1	37270641	37270641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaactcgcccacggccaCcagcacagagaggaccagcc	9	18	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:37270641C>T	uc001caz.2	-	15	2647	c.2512G>A	c.(2512-2514)GTG>ATG	p.V838M	GRIK3_uc001cba.1_Missense_Mutation_p.V838M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	838	Helical; (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCCACGGCCACCAGCACAGAG	0.577													T	37270641	C	T	37270641	3	4	178	1	0	0	0	0	1	0	0	0	6775	507	18	4	255	4	GRIK3	1	37270641	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2020147	37270641	211979980	21	95575											
MYCL1	4610	broad.mit.edu	37	chr1	40366987	40366987	+	Frame_Shift_Del	DEL	G	G	-													aagccccagggcggcgacgtGgggggcgatggcaccagctc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:40366987delG	uc001cer.1	-	2	337	c.120delC	c.(118-120)CCCfs	p.P40fs	MYCL1_uc001ces.1_Frame_Shift_Del_p.P40fs|MYCL1_uc001cet.1_Frame_Shift_Del_p.P40fs	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	40						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGGCGACGTGGGGGGCGATG	0.687			A		small cell lung 								-	40366987	G	-	40366987	7	5	178	1	0	1	0	1	0	0	0	0	10020	1335	47	0	1107	0	MYCL1	1	40366987	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	3096346	40366987	208883634	22	95576											
HIVEP3	59269	broad.mit.edu	37	chr1	41976128	41976128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttggagagaggctaagcGttggggggaaccctgtcctc	16	9	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:41976128G>A	uc001cgz.3	-	9	8428	c.7215C>T	c.(7213-7215)AAC>AAT	p.N2405N	HIVEP3_uc001cha.3_Silent_p.N2404N|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2405					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGGCTAAGCGTTGGGGGGAA	0.602													A	41976128	G	A	41976128	2	1	178	1	0	0	0	0	0	0	0	1	7188	1136	40	1		1	HIVEP3	1	41976128	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1609141	41976128	207274493	23	95577											
ATP6V0B	533	broad.mit.edu	37	chr1	44442008	44442008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctcctccatcattggtGgaggagtgaaggcccccagg	14	13	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:44442008G>A	uc001cld.2	+	4	346	c.235G>A	c.(235-237)GGA>AGA	p.G79R	ATP6V0B_uc001clc.2_Missense_Mutation_p.G79R|ATP6V0B_uc001cle.2_Missense_Mutation_p.G32R|ATP6V0B_uc001clf.2_Missense_Mutation_p.G32R|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	79	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CATCATTGGTGGAGGAGTGAA	0.537													A	44442008	G	A	44442008	3	1	178	1	0	0	0	0	1	0	0	0	1171	1349	47	4	249	4	ATP6V0B	1	44442008	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2465880	44442008	204808613	24	95578											
POMGNT1	55624	broad.mit.edu	37	chr1	46660558	46660558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtccctccagcccaGggcagggccagcctggctgc	13	17	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:46660558G>T	uc001cpe.2	-	7	774	c.610C>A	c.(610-612)CTG>ATG	p.L204M	POMGNT1_uc010olx.1_Missense_Mutation_p.L182M|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.L61M|POMGNT1_uc001cpg.2_Missense_Mutation_p.L204M|POMGNT1_uc001cpf.2_Intron|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	204	Lumenal (Potential).				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			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTCCAGCCCAGGGCAGGGCCA	0.627													T	46660558	G	T	46660558	3	4	178	1	0	0	0	0	1	0	0	0	12243	991	35	5	1436	5	POMGNT1	1	46660558	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2218550	46660558	202590063	25	95579											
CYP4X1	260293	broad.mit.edu	37	chr1	47489571	47489571	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggccctggggctgctgCaggccattaagctgtacctg	14	13	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:47489571C>T	uc001cqt.2	+	1	332	c.82C>T	c.(82-84)CAG>TAG	p.Q28*	CYP4X1_uc001cqr.2_Intron|CYP4X1_uc001cqs.2_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	28						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						GGGGCTGCTGCAGGCCATTAA	0.652													T	47489571	C	T	47489571	4	4	178	1	0	0	0	0	0	1	0	0	4193	711	25	2	84	2	CYP4X1	1	47489571	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	829013	47489571	201761050	26	95580											
FAM159A	348378	broad.mit.edu	37	chr1	53122577	53122577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacccgcagctggagagCaatgaggggcaggctgtgaa	16	8	0	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:53122577C>T	uc001cuf.2	+	3	538	c.438C>T	c.(436-438)AGC>AGT	p.S146S	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	146						integral to membrane					0						AGCTGGAGAGCAATGAGGGGC	0.577													T	53122577	C	T	53122577	2	4	178	1	0	0	0	0	0	0	0	1	5468	709	25	2		2	FAM159A	1	53122577	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5633006	53122577	196128044	27	95581											
ECHDC2	55268	broad.mit.edu	37	chr1	53370323	53370323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtcaccacacctgggGcaggatctcctgggccagtg	14	13	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:53370323G>A	uc001cup.3	-	7	943	c.697C>T	c.(697-699)CCC>TCC	p.P233S	ECHDC2_uc001cun.2_Missense_Mutation_p.P156S|ECHDC2_uc001cuo.3_Missense_Mutation_p.P202S|ECHDC2_uc010onk.1_Missense_Mutation_p.P187S	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	233					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1						CACACCTGGGGCAGGATCTCC	0.667													A	53370323	G	A	53370323	3	1	178	1	0	0	0	0	1	0	0	0	4894	1203	42	2	197	2	ECHDC2	1	53370323	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	247746	53370323	195880298	28	95582											
AK5	26289	broad.mit.edu	37	chr1	78001620	78001620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggagccggagcagcctgcCtgtggacgacaccaccaaga	13	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:78001620C>A	uc001dhn.2	+	13	1774	c.1517C>A	c.(1516-1518)CCT>CAT	p.P506H	AK5_uc001dho.2_Missense_Mutation_p.P480H	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	506					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			skin(1)	1						AGCAGCCTGCCTGTGGACGAC	0.572													A	78001620	C	A	78001620	3	1	178	1	0	0	0	0	1	0	0	0	443	681	24	5	1567	5	AK5	1	78001620	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	24631297	78001620	171249001	29	95583											
ZZZ3	26009	broad.mit.edu	37	chr1	78041802	78041804	+	In_Frame_Del	DEL	TCA	TCA	-													ggctatgaaaacaagatcggTcatcatcttcatccatatac							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:78041801_78041803GTCA>G	uc001dhq.3	-	11	2757_2759	c.2281_2283TGAC>C	c.(2281-2283)gac>C	p.D761del	ZZZ3_uc001dhr.3_In_Frame_Del_p.D267del|ZZZ3_uc001dhp.3_In_Frame_Del_p.D760del	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	761					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						AACAAGATCGGTCATCATCTTCA	0.394													-	78041804	TCA	-	78041802	7	5	178	1	0	1	0	1	0	0	0	0	18253	1667	58	0	445	0	ZZZ3	1	78041802	In_Frame_Del	DEL	TCA	TCGA-CG-4465-01A-01D-1158-08	40182	78041802	171208819	30	95584											
ZZZ3	26009	broad.mit.edu	37	chr1	78098938	78098938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagatttcttcaggatgCgcaatgctacgattccttaa	9	8	2	1	rs143272664	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:78098938C>T	uc001dhq.2	-	5	578	c.102G>A	c.(100-102)GCG>GCA	p.A34A	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Silent_p.A34A|ZZZ3_uc001dhp.2_Silent_p.A34A	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						CTTCAGGATGCGCAATGCTAC	0.418													T	78098938	C	T	78098938	2	4	178	1	0	0	0	0	0	0	0	1	18253	755	27	1		1	ZZZ3	1	78098938	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	57136	78098938	171151683	31	95585											
GBP7	388646	broad.mit.edu	37	chr1	89613322	89613322	+	Frame_Shift_Del	DEL	C	C	-													gcttctaagtagatattgtgCccccccggaacaaagaaagt					rs138127555		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:89613321_89613321GC>G	uc001dna.2	-	7	1433	c.1294_1294GC>C	c.(1294-1296)cacfs	p.H432fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	432						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)		TAGATATTGTGCCCCCCCGGA	0.438													-	89613322	C	-	89613322	7	5	178	1	0	1	0	1	0	0	0	0	6279	726	26	0	639	0	GBP7	1	89613322	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	11514384	89613322	159637299	32	95586											
BRDT	676	broad.mit.edu	37	chr1	92445140	92445140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaggatgttttcgaaacGcatttttcaaagatcccgat	7	8	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:92445140G>A	uc001dok.3	+	8	1462	c.1113G>A	c.(1111-1113)ACG>ACA	p.T371T	BRDT_uc001dol.3_Silent_p.T371T|BRDT_uc010osz.1_Silent_p.T375T|BRDT_uc009wdf.2_Silent_p.T298T|BRDT_uc010ota.1_Silent_p.T325T|BRDT_uc010otb.1_Silent_p.T325T|BRDT_uc001dom.3_Silent_p.T371T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTTTCGAAACGCATTTTTCAA	0.323													A	92445140	G	A	92445140	2	1	178	1	0	0	0	0	0	0	0	1	1508	1074	38	1		1	BRDT	1	92445140	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2831818	92445140	156805481	33	95587											
MTF2	22823	broad.mit.edu	37	chr1	93602291	93602291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcaataccacatttgCggagaagaagaggtcgtctt	11	9	1	3	rs1046801		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:93602291C>T	uc009wdj.2	+	15	1781	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W	MTF2_uc010oth.1_Missense_Mutation_p.R395W|MTF2_uc009wdk.2_Missense_Mutation_p.R440W|MTF2_uc001dpi.3_Missense_Mutation_p.R224W|MTF2_uc010oti.1_Missense_Mutation_p.R395W|MTF2_uc001dpj.3_Missense_Mutation_p.R395W|MTF2_uc001dpl.3_Missense_Mutation_p.R395W|MTF2_uc001dpm.3_Missense_Mutation_p.R166W	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	497						nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		ACCACATTTGCGGAGAAGAAG	0.423													T	93602291	C	T	93602291	3	4	178	1	0	0	0	0	1	0	0	0	9923	759	27	1	1547	1	MTF2	1	93602291	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1157151	93602291	155648330	34	95588											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342747	94342747	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcagaaagagatcttgcTtgtaaatgggaagtttgtct	10	5	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:94342747T>C	uc001dqf.2	-	2	782	c.744A>G	c.(742-744)CAA>CAG	p.Q248Q	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Silent_p.Q43Q	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		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)		GAGATCTTGCTTGTAAATGGG	0.348													C	94342747	T	C	94342747	2	2	178	1	0	0	0	0	0	0	0	1	4682	1606	56	3		3	DNTTIP2	1	94342747	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	740456	94342747	154907874	35	95589											
DBT	1629	broad.mit.edu	37	chr1	100696362	100696362	+	Frame_Shift_Del	DEL	T	T	-													tcgtctagattataatagagTtttttaatgactccatcata							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:100696362delT	uc001dta.2	-	4	393	c.360delA	c.(358-360)AAAfs	p.K120fs	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	120	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TATAATAGAGTTTTTTAATGA	0.343													-	100696362	T	-	100696362	7	5	178	1	0	1	0	1	0	0	0	0	4258	1722	60	0	1120	0	DBT	1	100696362	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	6353615	100696362	148554259	36	95590											
CDC14A	8556	broad.mit.edu	37	chr1	100856294	100856294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctttctagtcatacAgtttgtcaagaaagaaaata	5	8	5	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:100856294A>G	uc001dtg.3	+	4	711	c.223A>G	c.(223-225)AGT>GGT	p.S75G	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.S17G|CDC14A_uc001dte.3_Missense_Mutation_p.S75G|CDC14A_uc001dtf.2_Missense_Mutation_p.S75G|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.S75G|CDC14A_uc009wec.1_Missense_Mutation_p.S75G	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	75	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		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)		CTAGTCATACAGTTTGTCAAG	0.368													G	100856294	A	G	100856294	3	3	178	1	0	0	0	0	1	0	0	0	3056	188	7	3	237	3	CDC14A	1	100856294	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	159932	100856294	148394327	37	95591											
COL11A1	1301	broad.mit.edu	37	chr1	103379199	103379199	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatttactcaccggttgAccaggatctccatcttcacc	7	14	4	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:103379199A>C	uc001dul.2	-	53	4344	c.4026T>G	c.(4024-4026)GGT>GGG	p.G1342G	COL11A1_uc001duk.2_Silent_p.G538G|COL11A1_uc001dum.2_Silent_p.G1354G|COL11A1_uc001dun.2_Silent_p.G1303G|COL11A1_uc009weh.2_Silent_p.G1226G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1342	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		TCACCGGTTGACCAGGATCTC	0.338													C	103379199	A	C	103379199	2	2	178	1	0	0	0	0	0	0	0	1	3667	262	10	5		5	COL11A1	1	103379199	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	2522905	103379199	145871422	38	95592											
NTNG1	22854	broad.mit.edu	37	chr1	107937799	107937799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgtaatctccatgccaCtgtatgtgtgtatgacaaca	8	9	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:107937799C>T	uc001dvh.3	+	4	1629	c.911C>T	c.(910-912)ACT>ATT	p.T304I	NTNG1_uc001dvf.3_Missense_Mutation_p.T304I|NTNG1_uc010out.1_Missense_Mutation_p.T304I|NTNG1_uc001dvc.3_Missense_Mutation_p.T304I|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.T304I	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	304	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CTCCATGCCACTGTATGTGTG	0.468													T	107937799	C	T	107937799	3	4	178	1	0	0	0	0	1	0	0	0	10704	565	20	4	921	4	NTNG1	1	107937799	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4558600	107937799	141312822	39	95593											
EPS8L3	79574	broad.mit.edu	37	chr1	110302334	110302334	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagctgcagccagccgTccctgacctgcaggatcaag	11	16	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:110302334T>G	uc001dyr.1	-	4	366	c.221A>C	c.(220-222)GAC>GCC	p.D74A	EPS8L3_uc001dys.1_Missense_Mutation_p.D74A|EPS8L3_uc001dyq.1_Missense_Mutation_p.D74A|EPS8L3_uc009wfm.1_Missense_Mutation_p.D40A|EPS8L3_uc009wfn.1_Missense_Mutation_p.D40A|EPS8L3_uc009wfo.1_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	74						cytoplasm	protein binding			ovary(2)|skin(1)	3		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)		CAGCCAGCCGTCCCTGACCTG	0.602													G	110302334	T	G	110302334	3	3	178	1	0	0	0	0	1	0	0	0	5197	1667	58	5	1627	5	EPS8L3	1	110302334	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2364535	110302334	138948287	40	95594											
ALX3	257	broad.mit.edu	37	chr1	110603359	110603359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccatgcaaccgatcacGtggtccagttcagaaggccg	12	12	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:110603359G>A	uc001dzb.2	-	4	1116	c.1028C>T	c.(1027-1029)ACG>ATG	p.T343M		NM_006492	NP_006483	O95076	ALX3_HUMAN	aristaless-like homeobox 3	343						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AACCGATCACGTGGTCCAGTT	0.577													A	110603359	G	A	110603359	3	1	178	1	0	0	0	0	1	0	0	0	557	1145	40	1	7	1	ALX3	1	110603359	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	301025	110603359	138647262	41	95595											
CEPT1	10390	broad.mit.edu	37	chr1	111726093	111726093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttattcataggttgcacacAtgacgaaaagtgaaatgcat	8	6	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:111726093A>G	uc001eah.1	+	8	1223	c.1015A>G	c.(1015-1017)ATG>GTG	p.M339V	CEPT1_uc001eai.1_Missense_Mutation_p.M339V|CEPT1_uc001eaj.1_Missense_Mutation_p.M339V|CEPT1_uc009wfz.1_Missense_Mutation_p.M73V	NM_001007794	NP_001007795	Q9Y6K0	CEPT1_HUMAN	choline/ethanolaminephosphotransferase	339						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding				0		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)	GGTTGCACACATGACGAAAAG	0.353													G	111726093	A	G	111726093	3	3	178	1	0	0	0	0	1	0	0	0	3264	217	8	3	1041	3	CEPT1	1	111726093	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1122734	111726093	137524528	42	95596											
VPS45	11311	broad.mit.edu	37	chr1	150044232	150044233	+	Splice_Site	INS	-	-	G													gcttgttcttcattttctagINSgagaatgtggattatattat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:150044231_150044232A>AG	uc001etp.3	+	3	802	c.229_splice	c.e3-1	p.E77_splice	VPS45_uc010pbp.1_Splice_Site|VPS45_uc010pbq.2_Splice_Site_p.E41_splice|VPS45_uc010pbs.2_Splice_Site_p.E41_splice|VPS45_uc009wlm.1_Splice_Site_p.E77_splice|VPS45_uc010pbr.1_Splice_Site_p.E41_splice	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	77					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome 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)			TTCATTTTCTAGGAGAATGTGG	0.322													G	150044233	-	G	150044232	8	5	178	1	0	1	1	0	0	0	1	0	17208	1014	35	0	238	0	VPS45	1	150044232	Splice_Site	INS	-	TCGA-CG-4465-01A-01D-1158-08	38318139	150044232	99206389	43	95597											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531794	150531794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggctctggcacacagcGtagagacatcatctgtgtat	11	9	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:150531794G>A	uc001eux.2	+	17	3031	c.2795G>A	c.(2794-2796)CGT>CAT	p.R932H	ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R955H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R893H|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.R95H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	932	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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)			GGCACACAGCGTAGAGACATC	0.602											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	150531794	G	A	150531794	3	1	178	1	0	0	0	0	1	0	0	0	277	1145	40	1	2928	1	ADAMTSL4	1	150531794	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	487562	150531794	98718827	44	95598											
TCHH	7062	broad.mit.edu	37	chr1	152081704	152081704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtctgtctcttgacggCgtctcttctcttctctttcc	6	14	6	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:152081704C>T	uc001ezp.2	-	2	3989	c.3989G>A	c.(3988-3990)CGC>CAC	p.R1330H	TCHH_uc009wne.1_Missense_Mutation_p.R1330H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1330	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGACGGCGTCTCTTCTC	0.547													T	152081704	C	T	152081704	3	4	178	1	0	0	0	0	1	0	0	0	15697	768	27	1	1846	1	TCHH	1	152081704	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1549910	152081704	97168917	45	95599											
HRNR	388697	broad.mit.edu	37	chr1	152186045	152186045	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agacagaagagtgacccaagCgagactcatatgggccacgg	13	10	1	5	rs143834557		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:152186045C>G	uc001ezt.1	-	3	8136	c.8060G>C	c.(8059-8061)CGC>CCC	p.R2687P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2687	29.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCCAAGCGAGACTCATA	0.582													G	152186045	C	G	152186045	3	3	178	1	0	0	0	0	1	0	0	0	7359	768	27	5	496	5	HRNR	1	152186045	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	104341	152186045	97064576	46	95600											
SLC27A3	11000	broad.mit.edu	37	chr1	153751246	153751246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagctggcccaggggAagttgctaaaggatgtcttc	15	9	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:153751246A>G	uc001fcz.2	+	7	1737	c.1672A>G	c.(1672-1674)AAG>GAG	p.K558E	SLC27A3_uc009won.2_RNA	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	solute carrier family 27 member 3	558					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			ovary(1)	1	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCCAGGGGAAGTTGCTAAA	0.607													G	153751246	A	G	153751246	3	3	178	1	0	0	0	0	1	0	0	0	14527	247	9	3	1698	3	SLC27A3	1	153751246	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1565201	153751246	95499375	47	95601											
ATP8B2	57198	broad.mit.edu	37	chr1	154313343	154313343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagtgtggaggtcatcCgtctgggccacagctacttc	13	11	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:154313343C>T	uc001fex.2	+	13	1147	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	369	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGTCATCCGTCTGGGCCA	0.602													T	154313343	C	T	154313343	3	4	178	1	0	0	0	0	1	0	0	0	1195	652	23	1	1327	1	ATP8B2	1	154313343	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	562097	154313343	94937278	48	95602											
C1orf85	112770	broad.mit.edu	37	chr1	156264188	156264188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccattggcaaaagtccTggtagggtcgttcatggggt	15	8	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:156264188T>C	uc001foh.2	-	3	560	c.547A>G	c.(547-549)AGG>GGG	p.R183G	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Missense_Mutation_p.R183G|C1orf85_uc009wrx.2_Intron|C1orf85_uc001foj.2_Missense_Mutation_p.R97G	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	183	Lumenal (Potential).				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			ovary(2)	2	Hepatocellular(266;0.158)					GCAAAAGTCCTGGTAGGGTCG	0.502													C	156264188	T	C	156264188	3	2	178	1	0	0	0	0	1	0	0	0	2062	1579	55	3	689	3	C1orf85	1	156264188	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1950845	156264188	92986433	49	95603											
ARHGEF11	9826	broad.mit.edu	37	chr1	156906671	156906671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctaggggctccttagCgggaggtgagagggagccat	18	7	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:156906671C>T	uc001fqo.2	-	39	5487	c.4447G>A	c.(4447-4449)GCT>ACT	p.A1483T	ARHGEF11_uc010phu.1_Missense_Mutation_p.A899T|ARHGEF11_uc001fqn.2_Missense_Mutation_p.A1523T|MIR765_hsa-mir-765|MI0005116_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1483					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCTCCTTAGCGGGAGGTGAG	0.597													T	156906671	C	T	156906671	3	4	178	1	0	0	0	0	1	0	0	0	896	768	27	1	129	1	ARHGEF11	1	156906671	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	642483	156906671	92343950	50	95604											
FCRL5	83416	broad.mit.edu	37	chr1	157490925	157490926	+	Frame_Shift_Ins	INS	-	-	G													ttaaggacgctcctccagagINSggggacgacctatttcctag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:157490924_157490925A>AG	uc009wsm.3	-	10	2555_2556	c.2397_2398T>CT	c.(2395-2400)ccctctfs	p.P799fs	FCRL5_uc001fqu.3_Frame_Shift_Ins_p.P799fs	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	799	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.P799S(1)		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)				GCTCCTCCAGAGGGGGACGACC	0.579													G	157490926	-	G	157490925	7	5	178	1	0	1	1	0	0	0	0	0	5798	987	35	0	564	0	FCRL5	1	157490925	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	584254	157490925	91759696	51	95605											
CD1D	912	broad.mit.edu	37	chr1	158152853	158152853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagacatggtatctccgaGcaaccctggatgtggtggct	13	10	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:158152853G>A	uc001frr.2	+	5	1292	c.793G>A	c.(793-795)GCA>ACA	p.A265T	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	265	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					GTATCTCCGAGCAACCCTGGA	0.607													A	158152853	G	A	158152853	3	1	178	1	0	0	0	0	1	0	0	0	2977	971	34	2	807	2	CD1D	1	158152853	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	661928	158152853	91097768	52	95606											
OR10R2	343406	broad.mit.edu	37	chr1	158449945	158449945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacatctgagaccttctAcacctttgtcattctaccca	3	15	5	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:158449945A>G	uc010pik.1	+	1	278	c.278A>G	c.(277-279)TAC>TGC	p.Y93C	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	93	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GAGACCTTCTACACCTTTGTC	0.438													G	158449945	A	G	158449945	3	3	178	1	0	0	0	0	1	0	0	0	10917	391	14	3	280	3	OR10R2	1	158449945	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	297092	158449945	90800676	53	95607											
ATP1A4	480	broad.mit.edu	37	chr1	160137152	160137152	+	Frame_Shift_Del	DEL	A	A	-													ctgtggcggagatgagagagAaaaaccccaaggtggcagag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:160137151_160137151GA>G	uc001fve.4	+	9	1919	c.1440_1440GA>G	c.(1438-1440)gagfs	p.E480fs	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	480					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)			AGATGAGAGAGAAAAACCCCA	0.522													-	160137152	A	-	160137152	7	5	178	1	0	1	0	1	0	0	0	0	1131	247	9	0	1479	0	ATP1A4	1	160137152	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	1687207	160137152	89113469	54	95608											
PVRL4	81607	broad.mit.edu	37	chr1	161047443	161047443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtcacgctgggggctGggctgccctcagctgtgcag	16	14	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:161047443G>A	uc001fxo.2	-	3	829	c.530C>T	c.(529-531)CCA>CTA	p.P177L	PVRL4_uc010pjz.1_5'Flank	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	177	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCTGGGGGCTGGGCTGCCCTC	0.637													A	161047443	G	A	161047443	3	1	178	1	0	0	0	0	1	0	0	0	12842	1348	47	4	1030	4	PVRL4	1	161047443	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	910291	161047443	88203178	55	95609											
DDR2	4921	broad.mit.edu	37	chr1	162749971	162749971	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctcagctgctggagaagaGatacgaagaaccgtccctca	11	11	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:162749971G>T	uc001gcf.2	+	19	2968	c.2503G>T	c.(2503-2505)GAT>TAT	p.D835Y	DDR2_uc001gcg.2_Missense_Mutation_p.D835Y|uc001gch.1_5'Flank	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	835	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTGGAGAAGAGATACGAAGAA	0.483													T	162749971	G	T	162749971	3	4	178	1	0	0	0	0	1	0	0	0	4337	942	33	5	2565	5	DDR2	1	162749971	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1702528	162749971	86500650	56	95610											
MAEL	84944	broad.mit.edu	37	chr1	166990949	166990949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctggccaaaacagcagcGttcggggaagaggaattacc	12	9	1	1	rs141476246	by1000genomes	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:166990949G>A	uc001gdy.1	+	12	1233	c.1162G>A	c.(1162-1164)GTT>ATT	p.V388I	MAEL_uc001gdz.1_Missense_Mutation_p.V357I|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	388					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						AAACAGCAGCGTTCGGGGAAG	0.378													A	166990949	G	A	166990949	3	1	178	1	0	0	0	0	1	0	0	0	9154	1145	40	1	1208	1	MAEL	1	166990949	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4240978	166990949	82259672	57	95611											
BAT2L2	23215	broad.mit.edu	37	chr1	171557571	171557571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgaacagcattgtctAccagaagcagttccagtcag	8	10	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:171557571A>G	uc010pmg.1	+	33	8386	c.8120A>G	c.(8119-8121)TAC>TGC	p.Y2707C	BAT2L2_uc010pmh.1_Missense_Mutation_p.Y1619C|BAT2L2_uc010pmi.1_Missense_Mutation_p.Y544C|BAT2L2_uc010pmj.1_Missense_Mutation_p.Y239C	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	2707							protein C-terminus binding				0						AGCATTGTCTACCAGAAGCAG	0.443													G	171557571	A	G	171557571	3	3	178	1	0	0	0	0	1	0	0	0	1321	391	14	3	8138	3	BAT2L2	1	171557571	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	4566622	171557571	77693050	58	95612											
CENPL	91687	broad.mit.edu	37	chr1	173776423	173776423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggacaagaaatgcttcCgggtccctttgtgttccttt	9	11	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:173776423C>T	uc001gje.3	-	3	616	c.402G>A	c.(400-402)CCG>CCA	p.P134P	CENPL_uc009wwg.2_Silent_p.P8P|CENPL_uc001gjg.3_Silent_p.P134P|CENPL_uc001gjf.3_Silent_p.P134P	NM_033319	NP_201576	Q8N0S6	CENPL_HUMAN	centromere protein L isoform 2	134					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus					0						GAAATGCTTCCGGGTCCCTTT	0.363													T	173776423	C	T	173776423	2	4	178	1	0	0	0	0	0	0	0	1	3236	639	23	1		1	CENPL	1	173776423	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2218852	173776423	75474198	59	95613											
TNN	63923	broad.mit.edu	37	chr1	175067522	175067522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacagagaatatggccaCggtctcctgggacccggtgc	15	11	1	2	rs144603425	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:175067522C>T	uc001gkl.1	+	9	2023	c.1910C>T	c.(1909-1911)ACG>ATG	p.T637M	TNN_uc010pmx.1_Missense_Mutation_p.T548M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	637	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AATATGGCCACGGTCTCCTGG	0.557													T	175067522	C	T	175067522	3	4	178	1	0	0	0	0	1	0	0	0	16320	536	19	1	1940	1	TNN	1	175067522	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1291099	175067522	74183099	60	95614											
RASAL2	9462	broad.mit.edu	37	chr1	178421736	178421736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgatgaccgcacatctcGgactctaactcttattgcca	6	14	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:178421736G>A	uc001glr.2	+	9	1639	c.1514G>A	c.(1513-1515)CGG>CAG	p.R505Q	RASAL2_uc001glq.2_Missense_Mutation_p.R653Q|RASAL2_uc009wxc.2_Missense_Mutation_p.R19Q	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	505	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CGCACATCTCGGACTCTAACT	0.418													A	178421736	G	A	178421736	3	1	178	1	0	0	0	0	1	0	0	0	13064	1116	39	1	2017	1	RASAL2	1	178421736	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3354214	178421736	70828885	61	95615											
SOAT1	6646	broad.mit.edu	37	chr1	179304653	179304653	+	Frame_Shift_Del	DEL	T	T	-													aattctaggaattgaagccaTtttttatgaaggaagttggc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:179304653delT	uc001gml.2	+	4	253	c.190delT	c.(190-192)TTTfs	p.F64fs	SOAT1_uc010pni.1_5'UTR|SOAT1_uc001gmm.2_Frame_Shift_Del_p.F6fs|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_5'UTR	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	64					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)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATTGAAGCCATTTTTTATGAA	0.373													-	179304653	T	-	179304653	7	5	178	1	0	1	0	1	0	0	0	0	14910	1493	52	0	200	0	SOAT1	1	179304653	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	882917	179304653	69945968	62	95616											
SOAT1	6646	broad.mit.edu	37	chr1	179310198	179310198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctgtcttatgcttTtggcaaatttcctaccgttg	7	12	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:179310198T>A	uc001gml.2	+	7	596	c.533T>A	c.(532-534)TTT>TAT	p.F178Y	SOAT1_uc010pni.1_Missense_Mutation_p.F113Y|SOAT1_uc001gmm.2_Missense_Mutation_p.F120Y|SOAT1_uc010pnj.1_Translation_Start_Site|SOAT1_uc010pnk.1_Missense_Mutation_p.F113Y	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	178					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)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCTTATGCTTTTGGCAAATTT	0.423													A	179310198	T	A	179310198	3	1	178	1	0	0	0	0	1	0	0	0	14910	1841	64	5	555	5	SOAT1	1	179310198	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	5545	179310198	69940423	63	95617											
CEP350	9857	broad.mit.edu	37	chr1	180063485	180063486	+	Frame_Shift_Ins	INS	-	-	A													aaagtcaaaacaacaactggINSaaaaaatcagcttactgaca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:180063485_180063486insA	uc001gnt.2	+	34	8628_8629	c.8245_8246insA	c.(8245-8247)GAAfs	p.E2749fs	CEP350_uc009wxl.2_Frame_Shift_Ins_p.E2748fs|CEP350_uc001gnv.2_Frame_Shift_Ins_p.E884fs|CEP350_uc001gnw.1_Frame_Shift_Ins_p.E506fs|CEP350_uc001gnx.1_Frame_Shift_Ins_p.E506fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2749	Potential.					centrosome|nucleus|spindle				ovary(4)	4						ACAACAACTGGAAAAAATCAGC	0.356													A	180063486	-	A	180063485	7	5	178	1	0	1	1	0	0	0	0	0	3254	1175	41	0	8375	0	CEP350	1	180063485	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	753287	180063485	69187136	64	95618	476	2									
CEP350	9857	broad.mit.edu	37	chr1	180063486	180063487	+	Frame_Shift_Ins	INS	-	-	A													aagtcaaaacaacaactggaINSaaaaatcagcttactgacag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:180063485_180063486G>GA	uc001gnt.3	+	33	8628_8629	c.8245_8246G>GA	c.(8245-8247)gaafs	p.E2749fs	CEP350_uc009wxl.2_Frame_Shift_Ins_p.E2748fs|CEP350_uc001gnv.3_Frame_Shift_Ins_p.E884fs|CEP350_uc001gnw.1_Frame_Shift_Ins_p.E506fs|CEP350_uc001gnx.1_Frame_Shift_Ins_p.E506fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2749						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						ACAACAACTGGAAAAAATCAGC	0.356													A	180063487	-	A	180063486	7	5	178	1	0	1	1	0	0	0	0	0	3254	246	9	0	8376	0	CEP350	1	180063486	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	1	180063486	69187135	65	95619	476	2									
ZNF648	127665	broad.mit.edu	37	chr1	182026670	182026670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgggacatccaagactGcgtcctggtttgcccccgag	14	12	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:182026670G>A	uc001goz.2	-	2	684	c.476C>T	c.(475-477)GCA>GTA	p.A159V		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATCCAAGACTGCGTCCTGGTT	0.537													A	182026670	G	A	182026670	3	1	178	1	0	0	0	0	1	0	0	0	18060	1319	46	2	1234	2	ZNF648	1	182026670	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1963184	182026670	67223951	66	95620											
CFHR2	3080	broad.mit.edu	37	chr1	196927034	196927034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttagtttctgcagaaaaAtgtgggccccctccacctat	7	11	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:196927034A>C	uc001gtq.1	+	4	521	c.444A>C	c.(442-444)AAA>AAC	p.K148N	CFHR2_uc001gtr.1_Missense_Mutation_p.K24N	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	148	Sushi 3.					extracellular region				skin(2)|ovary(1)	3						CTGCAGAAAAATGTGGGCCCC	0.378													C	196927034	A	C	196927034	3	2	178	1	0	0	0	0	1	0	0	0	3285	98	4	5	458	5	CFHR2	1	196927034	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	14900364	196927034	52323587	67	95621											
LAD1	3898	broad.mit.edu	37	chr1	201358401	201358401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgcgctcctgttcctcCtcatcctccagagtcctctg	7	19	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:201358401C>T	uc001gwm.2	-	2	304	c.69G>A	c.(67-69)GAG>GAA	p.E23E	LAD1_uc009wzu.1_Silent_p.E45E	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	23						basement membrane	structural molecule activity				0						CCTGTTCCTCCTCATCCTCCA	0.682													T	201358401	C	T	201358401	2	4	178	1	0	0	0	0	0	0	0	1	8599	680	24	4		4	LAD1	1	201358401	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4431367	201358401	47892220	68	95622											
IPO9	55705	broad.mit.edu	37	chr1	201842072	201842072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgagggcatccgcacccGctctaagtcagccaaaagtg	12	12	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:201842072G>A	uc001gwz.2	+	20	2743	c.2693G>A	c.(2692-2694)CGC>CAC	p.R898H		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	898					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						ATCCGCACCCGCTCTAAGTCA	0.532													A	201842072	G	A	201842072	3	1	178	1	0	0	0	0	1	0	0	0	7799	1087	38	1	2771	1	IPO9	1	201842072	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	483671	201842072	47408549	69	95623											
ADIPOR1	51094	broad.mit.edu	37	chr1	202910745	202910745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccttctaggccgtaacGgaattcctgaaggttggaga	13	10	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:202910745G>A	uc001gyq.3	-	8	1351	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	ADIPOR1_uc010pqd.1_Missense_Mutation_p.R286C|ADIPOR1_uc001gyr.3_Missense_Mutation_p.R161C|ADIPOR1_uc001gys.3_Missense_Mutation_p.R362C	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	362	Extracellular (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCCGTAACGGAATTCCTGA	0.493													A	202910745	G	A	202910745	3	1	178	1	0	0	0	0	1	0	0	0	318	1116	39	1	47	1	ADIPOR1	1	202910745	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1068673	202910745	46339876	70	95624											
TMCC2	9911	broad.mit.edu	37	chr1	205238475	205238475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgcgggacatgcagcAggggctgaaggacgtgggcg	20	9	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:205238475A>C	uc001hbz.1	+	4	1589	c.1145A>C	c.(1144-1146)CAG>CCG	p.Q382P	TMCC2_uc010prf.1_Missense_Mutation_p.Q304P|TMCC2_uc001hca.2_Missense_Mutation_p.Q157P|TMCC2_uc001hcb.1_Missense_Mutation_p.Q142P|TMCC2_uc001hcc.1_Missense_Mutation_p.Q3P|TMCC2_uc001hcd.2_Missense_Mutation_p.Q149P	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	382						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GACATGCAGCAGGGGCTGAAG	0.682													C	205238475	A	C	205238475	3	2	178	1	0	0	0	0	1	0	0	0	15990	188	7	5	1155	5	TMCC2	1	205238475	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	2327730	205238475	44012146	71	95625											
IKBKE	9641	broad.mit.edu	37	chr1	206667321	206667321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacaaccgcatcatcgAacggtaaggagctttcacct	9	12	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:206667321A>G	uc001hdz.1	+	21	2482	c.2114A>G	c.(2113-2115)GAA>GGA	p.E705G	IKBKE_uc009xbv.1_3'UTR|IKBKE_uc001hea.1_Missense_Mutation_p.E620G	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	705					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			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					CGCATCATCGAACGGTAAGGA	0.597													G	206667321	A	G	206667321	3	3	178	1	0	0	0	0	1	0	0	0	7612	246	9	3	2188	3	IKBKE	1	206667321	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1428846	206667321	42583300	72	95626											
LAMB3	3914	broad.mit.edu	37	chr1	209799111	209799111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctaggatccgggaggccaGgccacggtcctccagcccag	13	15	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:209799111G>T	uc001hhg.2	-	13	2248	c.1858C>A	c.(1858-1860)CTG>ATG	p.L620M	LAMB3_uc009xco.2_Missense_Mutation_p.L620M|LAMB3_uc001hhh.2_Missense_Mutation_p.L620M|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	620	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGGAGGCCAGGCCACGGTCC	0.637													T	209799111	G	T	209799111	3	4	178	1	0	0	0	0	1	0	0	0	8612	991	35	5	1700	5	LAMB3	1	209799111	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3131790	209799111	39451510	73	95627											
LAMB3	3914	broad.mit.edu	37	chr1	209800867	209800867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagacaaaggcagcgcCcactctcctcgtcacacggc	11	16	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:209800867C>T	uc001hhg.2	-	11	1736	c.1346G>A	c.(1345-1347)GGG>GAG	p.G449E	LAMB3_uc009xco.2_Missense_Mutation_p.G449E|LAMB3_uc001hhh.2_Missense_Mutation_p.G449E|LAMB3_uc010psl.1_RNA	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	449	Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAGGCAGCGCCCACTCTCCTC	0.627											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	209800867	C	T	209800867	3	4	178	1	0	0	0	0	1	0	0	0	8612	623	22	4	2220	4	LAMB3	1	209800867	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1756	209800867	39449754	74	95628											
CENPF	1063	broad.mit.edu	37	chr1	214830442	214830442	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagagatgttagagacacaAgtggcccatctgtgttcaca	10	8	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:214830442A>T	uc001hkm.2	+	18	8826	c.8652A>T	c.(8650-8652)CAA>CAT	p.Q2884H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2980	Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization.				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGAGACACAAGTGGCCCATC	0.428													T	214830442	A	T	214830442	3	4	178	1	0	0	0	0	1	0	0	0	3231	69	3	5	8718	5	CENPF	1	214830442	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	5029575	214830442	34420179	75	95629											
CAPN2	824	broad.mit.edu	37	chr1	223954100	223954100	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtcagatggcttcagcatCgagacatgcaaaattatggt	10	7	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:223954100C>T	uc001hob.3	+	16	1946	c.1722C>T	c.(1720-1722)ATC>ATT	p.I574I	CAPN2_uc010puy.1_Silent_p.I496I|CAPN2_uc001hoc.2_Silent_p.I155I	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	574	Domain IV.|EF-hand 1.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		GCTTCAGCATCGAGACATGCA	0.343													T	223954100	C	T	223954100	2	4	178	1	0	0	0	0	0	0	0	1	2627	874	31	1		1	CAPN2	1	223954100	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	9123658	223954100	25296521	76	95630											
EPHX1	2052	broad.mit.edu	37	chr1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-													tccacttcatccacgtgaagCccccccagctgcccgcaggc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:226026383_226026383GC>G	uc001hpk.3	+	3	473	c.393_393GC>G	c.(391-393)aagfs	p.K131fs	EPHX1_uc001hpl.3_Frame_Shift_Del_p.K131fs	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGC	0.622													-	226026384	C	-	226026384	7	5	178	1	0	1	0	1	0	0	0	0	5179	739	26	0	404	0	EPHX1	1	226026384	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	2072284	226026384	23224237	77	95631											
WNT9A	7483	broad.mit.edu	37	chr1	228109556	228109556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcattggtggtgctgCccaccttgagtgccgtctca	11	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:228109556C>T	uc001hri.2	-	4	849	c.761G>A	c.(760-762)GGC>GAC	p.G254D		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	254					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			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				GGTGGTGCTGCCCACCTTGAG	0.667													T	228109556	C	T	228109556	3	4	178	1	0	0	0	0	1	0	0	0	17395	739	26	2	340	2	WNT9A	1	228109556	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2083172	228109556	21141065	78	95632											
HEATR1	55127	broad.mit.edu	37	chr1	236721620	236721622	+	In_Frame_Del	DEL	CTC	CTC	-													gcgcttcccaggacattcttCtcctcctttctctctggagc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:236721619_236721621TCTC>T	uc001hyd.2	-	35	5272_5274	c.5120_5122GAGA>A	c.(5119-5124)gagaag>gAag	p.K1708del	HEATR1_uc009xgh.2_In_Frame_Del_p.K870del	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1708					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)			AGGACATTCTTCTCCTCCTTTCT	0.527													-	236721622	CTC	-	236721620	7	5	178	1	0	1	0	1	0	0	0	0	7027	912	32	0	1353	0	HEATR1	1	236721620	In_Frame_Del	DEL	CTC	TCGA-CG-4465-01A-01D-1158-08	8612064	236721620	12529001	79	95633											
HEATR1	55127	broad.mit.edu	37	chr1	236749680	236749680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacatacaaccacctgattTgacaactgatcattttcact	3	11	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:236749680T>C	uc001hyd.1	-	15	1913	c.1788A>G	c.(1786-1788)TCA>TCG	p.S596S		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	596					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCACCTGATTTGACAACTGAT	0.348													C	236749680	T	C	236749680	2	2	178	1	0	0	0	0	0	0	0	1	7027	1799	63	3		3	HEATR1	1	236749680	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	28060	236749680	12500941	80	95634											
WDR64	128025	broad.mit.edu	37	chr1	241904846	241904846	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttatggacatgtatcctttGactaggatgatacaagatac	9	6	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:241904846G>A	uc001hze.1	+	11	1527	c.1320G>A	c.(1318-1320)TTG>TTA	p.L440L	WDR64_uc001hzf.1_Silent_p.L160L			B1ANS9	WDR64_HUMAN	RecName: Full=WD repeat-containing protein 64;	440	WD 5.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGTATCCTTTGACTAGGATGA	0.348													A	241904846	G	A	241904846	2	1	178	1	0	0	0	0	0	0	0	1	17312	1281	45	4		4	WDR64	1	241904846	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5155166	241904846	7345775	81	95635											
AKT3	10000	broad.mit.edu	37	chr1	243777027	243777027	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacggtcttttgtctggaaGgaatatttcaaggacttgaa	10	5	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:243777027G>T	uc001iab.1	-	7	723	c.642C>A	c.(640-642)TCC>TCA	p.S214S	AKT3_uc001hzz.1_Silent_p.S214S	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	214	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)			TTGTCTGGAAGGAATATTTCA	0.289													T	243777027	G	T	243777027	2	4	178	1	0	0	0	0	0	0	0	1	481	987	35	5		5	AKT3	1	243777027	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1872181	243777027	5473594	82	95636											
OR2G3	81469	broad.mit.edu	37	chr1	247769130	247769130	+	Silent	SNP	C	C	T													actagccttgctcctcagacCttagttaacttgcaaagacc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:247769130C>T	uc010pyz.1	+	1	243	c.243C>T	c.(241-243)ACC>ACT	p.T81T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	81	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)			CTCCTCAGACCTTAGTTAACT	0.458													T	247769130	C	T	247769130	2	4	178	1	0	0	0	0	0	0	0	1	10999	668	24	4		4	OR2G3	1	247769130	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3992103	247769130	1481491	83	95637	477	2									
OR2G3	81469	broad.mit.edu	37	chr1	247769135	247769135	+	Missense_Mutation	SNP	T	T	G													ccttgctcctcagaccttagTtaacttgcaaagaccaaaga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:247769135T>G	uc010pyz.1	+	1	248	c.248T>G	c.(247-249)GTT>GGT	p.V83G		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)			CAGACCTTAGTTAACTTGCAA	0.463													G	247769135	T	G	247769135	3	3	178	1	0	0	0	0	1	0	0	0	10999	1725	60	5	250	5	OR2G3	1	247769135	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	5	247769135	1481486	84	95638	477	2									
OR2T6	254879	broad.mit.edu	37	chr1	248550954	248550954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaggctttaccctcatGgggctcttcactcacaataa	7	13	4	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr1:248550954G>A	uc001iei.1	+	1	45	c.45G>A	c.(43-45)ATG>ATA	p.M15I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			TTACCCTCATGGGGCTCTTCA	0.428													A	248550954	G	A	248550954	3	1	178	1	0	0	0	0	1	0	0	0	11029	1348	47	4	47	4	OR2T6	1	248550954	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	781819	248550954	699667	85	95639											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697946	17697946	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctatgttagttttcaaTagaatatctaaaggttctga	7	4	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:17697946T>C	uc002rcl.1	-	1	1761	c.1737A>G	c.(1735-1737)CTA>CTG	p.L579L	RAD51AP2_uc010exn.1_Silent_p.L570L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	579										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGTTTTCAATAGAATATCTA	0.264													C	17697946	T	C	17697946	2	2	178	1	0	0	0	0	0	0	0	1	12987	1393	49	3		3	RAD51AP2	2	17697946	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08		17697946	225501427	86	95640											
FKBP1B	2281	broad.mit.edu	37	chr2	24285969	24285969	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcgaagctgacctgcacCcctgatgtggcatatggagc	14	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:24285969C>A	uc002rer.2	+	4	370	c.234C>A	c.(232-234)ACC>ACA	p.T78T	FKBP1B_uc002res.2_3'UTR|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA	NM_004116	NP_004107	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa isoform a	78	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTGCACCCCTGATGTGG	0.567													A	24285969	C	A	24285969	2	1	178	1	0	0	0	0	0	0	0	1	5907	610	22	5		5	FKBP1B	2	24285969	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6588023	24285969	218913404	87	95641											
SLC5A6	8884	broad.mit.edu	37	chr2	27430423	27430423	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagaaccagcagcaggacGaacaccacatagtccatgat	10	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:27430423G>A	uc002rjd.2	-	3	487	c.96C>T	c.(94-96)TTC>TTT	p.F32F	SLC5A6_uc010eyv.1_Silent_p.F32F|SLC5A6_uc002rje.1_Silent_p.F32F	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	32	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCAGCAGGACGAACACCACAT	0.572													A	27430423	G	A	27430423	2	1	178	1	0	0	0	0	0	0	0	1	14669	1049	37	1		1	SLC5A6	2	27430423	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3144454	27430423	215768950	88	95642											
C2orf28	51374	broad.mit.edu	37	chr2	27436083	27436083	+	Frame_Shift_Del	DEL	A	A	-													gggagcgtgcaaaatttgtcAaaagtggccttttattgtaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:27436082_27436082CA>C	uc002rjf.3	+	1	475	c.302_302CA>C	c.(301-303)tcafs	p.S101fs	SLC5A6_uc002rjd.3_5'Flank|SLC5A6_uc010eyv.1_5'Flank|SLC5A6_uc002rje.1_5'Flank|C2orf28_uc002rjg.3_5'UTR	NM_001170795	NP_001164266	Q6UW56	APR3_HUMAN	Homo sapiens chromosome 2 open reading frame 28 (C2orf28), transcript variant 3, mRNA.	46						integral to membrane|plasma membrane				large_intestine(2)|lung(2)|skin(2)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAATTTGTCAAAAGTGGCC	0.463													-	27436083	A	-	27436083	7	5	178	1	0	1	0	1	0	0	0	0	2160	117	5	0	309	0	C2orf28	2	27436083	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	5660	27436083	215763290	89	95643											
SNX17	9784	broad.mit.edu	37	chr2	27598769	27598769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggccggggtgaggtgcgCctggaactggcttttgaata	18	8	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:27598769C>T	uc002rkg.1	+	11	1257	c.1035C>T	c.(1033-1035)CGC>CGT	p.R345R	SNX17_uc010ylj.1_Silent_p.R325R|SNX17_uc010ylk.1_Silent_p.R131R|SNX17_uc010eza.1_Silent_p.R131R|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Silent_p.R131R|SNX17_uc010yll.1_Silent_p.R131R|SNX17_uc010ylm.1_Silent_p.R131R|SNX17_uc010yln.1_Silent_p.R333R|SNX17_uc010ylo.1_Silent_p.R263R|SNX17_uc010ylp.1_Silent_p.R320R|SNX17_uc010ylq.1_Silent_p.R131R	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	345					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGGTGCGCCTGGAACTGG	0.607													T	27598769	C	T	27598769	2	4	178	1	0	0	0	0	0	0	0	1	14888	726	26	2		2	SNX17	2	27598769	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	162686	27598769	215600604	90	95644											
C2orf16	84226	broad.mit.edu	37	chr2	27803556	27803556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttatagcttctgttgggCggaagcctgtggacgggaca	16	7	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:27803556C>T	uc002rkz.3	+	1	4168	c.4117C>T	c.(4117-4119)CGG>TGG	p.R1373W	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1373										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTCTGTTGGGCGGAAGCCTGT	0.458													T	27803556	C	T	27803556	3	4	178	1	0	0	0	0	1	0	0	0	2157	759	27	1	4119	1	C2orf16	2	27803556	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	204787	27803556	215395817	91	95645											
ATL2	64225	broad.mit.edu	37	chr2	38570579	38570579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggtcatcttcatgagcaAgaacaatctgtactggacat	8	8	4	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:38570579A>G	uc002rqq.2	-	2	224	c.194T>C	c.(193-195)CTT>CCT	p.L65P	ATL2_uc010ynm.1_Missense_Mutation_p.L47P|ATL2_uc010ynn.1_Missense_Mutation_p.L47P|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.L65P|ATL2_uc002rqr.2_Intron	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	65	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TTCATGAGCAAGAACAATCTG	0.358													G	38570579	A	G	38570579	3	3	178	1	0	0	0	0	1	0	0	0	1107	72	3	3	1717	3	ATL2	2	38570579	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	10767023	38570579	204628794	92	95646											
PRKCE	5581	broad.mit.edu	37	chr2	46203609	46203609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgttcagggaacgcatgCggccgaggaagcggcagggg	20	8	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:46203609C>T	uc002rut.2	+	3	651	c.454C>T	c.(454-456)CGG>TGG	p.R152W		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	152					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			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GGAACGCATGCGGCCGAGGAA	0.587													T	46203609	C	T	46203609	3	4	178	1	0	0	0	0	1	0	0	0	12511	759	27	1	464	1	PRKCE	2	46203609	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	7633030	46203609	196995764	93	95647											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167141	+	Splice_Site	INS	-	-	G													gaatattttctacagaactgINSgggggggaaagccatttgat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:54167139_54167140T>TG	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		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)			TCTACAGAACTGGGGGGGGAAA	0.347													G	54167141	-	G	54167140	8	5	178	1	0	1	1	0	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	INS	-	TCGA-CG-4465-01A-01D-1158-08	7963531	54167140	189032233	94	95648											
SPTBN1	6711	broad.mit.edu	37	chr2	54873365	54873365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccaggggcaccagcctcGcattgacgacatctttgaga	10	12	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:54873365G>A	uc002rxu.2	+	23	4868	c.4619G>A	c.(4618-4620)CGC>CAC	p.R1540H	SPTBN1_uc002rxx.2_Missense_Mutation_p.R1527H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1540	Spectrin 12.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CACCAGCCTCGCATTGACGAC	0.552													A	54873365	G	A	54873365	3	1	178	1	0	0	0	0	1	0	0	0	15118	1087	38	1	4818	1	SPTBN1	2	54873365	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	706225	54873365	188326008	95	95649											
SPTBN1	6711	broad.mit.edu	37	chr2	54880747	54880747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctacatggcttcacaggTgaggcagctgcaggaggatg	14	11	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:54880747T>G	uc002rxu.2	+	27	5828	c.5579T>G	c.(5578-5580)GTG>GGG	p.V1860G	SPTBN1_uc002rxx.2_Missense_Mutation_p.V1847G|SPTBN1_uc002rxy.2_Missense_Mutation_p.V5G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1860	Interaction with ANK2.|Spectrin 15.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GCTTCACAGGTGAGGCAGCTG	0.612													G	54880747	T	G	54880747	3	3	178	1	0	0	0	0	1	0	0	0	15118	1710	59	5	5794	5	SPTBN1	2	54880747	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	7382	54880747	188318626	96	95650											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		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)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	178	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-CG-4465-01A-01D-1158-08	6696780	61577527	181621846	97	95651											
OTX1	5013	broad.mit.edu	37	chr2	63280040	63280040	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccccagacgcatcagaccCtgaaggactgcgtggtggga	14	13	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:63280040C>A	uc002scd.2	+	3	163	c.-85C>A	c.(-87--83)CCCTG>CCATG		OTX1_uc010ypt.1_Translation_Start_Site	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					GCATCAGACCCTGAAGGACTG	0.642													A	63280040	C	A	63280040	1	1	178	1	0	0	0	0	0	0	0	0	11320	696	24	5		5	OTX1	2	63280040	Translation_Start_Site	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1702513	63280040	179919333	98	95652											
SLC1A4	6509	broad.mit.edu	37	chr2	65243635	65243635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggaaatgaaagacatcAtcgtgctggtgaccagcctg	12	9	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:65243635A>G	uc010yqa.1	+	5	1184	c.862A>G	c.(862-864)ATC>GTC	p.I288V	SLC1A4_uc010ypy.1_Missense_Mutation_p.I68V|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Missense_Mutation_p.I288V|SLC1A4_uc002sdh.2_Missense_Mutation_p.I68V	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	288					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			pancreas(1)	1					L-Alanine(DB00160)	GAAAGACATCATCGTGCTGGT	0.453													G	65243635	A	G	65243635	3	3	178	1	0	0	0	0	1	0	0	0	14434	217	8	3	880	3	SLC1A4	2	65243635	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1963595	65243635	177955738	99	95653											
SPRED2	200734	broad.mit.edu	37	chr2	65540704	65540704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtagcaggcccgaagGggcaggtaacagcacataca	14	10	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:65540704G>A	uc002sdr.3	-	6	1723	c.1188C>T	c.(1186-1188)CCC>CCT	p.P396P	SPRED2_uc010fcw.2_Silent_p.P393P	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	396	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						AGGCCCGAAGGGGCAGGTAAC	0.597													A	65540704	G	A	65540704	2	1	178	1	0	0	0	0	0	0	0	1	15092	1219	43	4		4	SPRED2	2	65540704	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	297069	65540704	177658669	100	95654											
DYSF	8291	broad.mit.edu	37	chr2	71825835	71825835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacagttgctgagcaacCgcccagcattgtggtggagc	14	12	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:71825835C>T	uc002sie.2	+	33	4038	c.3662C>T	c.(3661-3663)CCG>CTG	p.P1221L	DYSF_uc010feg.2_Missense_Mutation_p.P1252L|DYSF_uc010feh.2_Missense_Mutation_p.P1207L|DYSF_uc002sig.3_Missense_Mutation_p.P1207L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1221L|DYSF_uc010fef.2_Missense_Mutation_p.P1238L|DYSF_uc010fei.2_Missense_Mutation_p.P1238L|DYSF_uc010fek.2_Missense_Mutation_p.P1239L|DYSF_uc010fej.2_Missense_Mutation_p.P1208L|DYSF_uc010fel.2_Missense_Mutation_p.P1208L|DYSF_uc010feo.2_Missense_Mutation_p.P1253L|DYSF_uc010fem.2_Missense_Mutation_p.P1222L|DYSF_uc010fen.2_Missense_Mutation_p.P1239L|DYSF_uc002sif.2_Missense_Mutation_p.P1222L|DYSF_uc010yqy.1_Missense_Mutation_p.P102L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1221	Cytoplasmic (Potential).|C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GCTGAGCAACCGCCCAGCATT	0.587													T	71825835	C	T	71825835	3	4	178	1	0	0	0	0	1	0	0	0	4859	652	23	1	3984	1	DYSF	2	71825835	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6285131	71825835	171373538	101	95655											
EXOC6B	23233	broad.mit.edu	37	chr2	72562106	72562106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgaaggccaactgcagCgtgtcctcctggaacccagg	12	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:72562106C>T	uc010fep.2	-	20	2304	c.2166G>A	c.(2164-2166)ACG>ACA	p.T722T		NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	722					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CCAACTGCAGCGTGTCCTCCT	0.453													T	72562106	C	T	72562106	2	4	178	1	0	0	0	0	0	0	0	1	5309	755	27	1		1	EXOC6B	2	72562106	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	736271	72562106	170637267	102	95656											
SLC4A5	57835	broad.mit.edu	37	chr2	74513013	74513013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggatgtcctggagctgCtcagcagctggggaccctgc	14	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:74513013C>T	uc002sko.1	-	3	290	c.288G>A	c.(286-288)GAG>GAA	p.E96E	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.E96E|SLC4A5_uc010ffc.1_Silent_p.E96E|SLC4A5_uc002skp.1_Silent_p.E32E|SLC4A5_uc002sks.1_Silent_p.E96E	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	96	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						CCTGGAGCTGCTCAGCAGCTG	0.582													T	74513013	C	T	74513013	2	4	178	1	0	0	0	0	0	0	0	1	14657	796	28	2		2	SLC4A5	2	74513013	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1950907	74513013	168686360	103	95657											
TTC31	64427	broad.mit.edu	37	chr2	74718259	74718259	+	Frame_Shift_Del	DEL	A	A	-													accattactattgcagcgtcAaaaggaacggaagcgacagg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:74718259delA	uc002slt.2	+	6	574	c.551delA	c.(550-552)CAAfs	p.Q184fs	TTC31_uc002sls.2_Frame_Shift_Del_p.Q113fs|TTC31_uc010yrv.1_Frame_Shift_Del_p.Q40fs|TTC31_uc002slu.2_Frame_Shift_Del_p.Q40fs	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	184	Potential.						binding				0						TTGCAGCGTCAAAAGGAACGG	0.308													-	74718259	A	-	74718259	7	5	178	1	0	1	0	1	0	0	0	0	16697	130	5	0	573	0	TTC31	2	74718259	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	205246	74718259	168481114	104	95658											
CTNNA2	1496	broad.mit.edu	37	chr2	80646695	80646695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaagaatatgcccaagTtttccgtgagcatgccaaca	9	9	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:80646695T>C	uc010ysh.1	+	8	1264	c.1259T>C	c.(1258-1260)GTT>GCT	p.V420A	CTNNA2_uc010yse.1_Missense_Mutation_p.V420A|CTNNA2_uc010ysf.1_Missense_Mutation_p.V420A|CTNNA2_uc010ysg.1_Missense_Mutation_p.V420A|CTNNA2_uc010ysi.1_Missense_Mutation_p.V52A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	420					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TATGCCCAAGTTTTCCGTGAG	0.443													C	80646695	T	C	80646695	3	2	178	1	0	0	0	0	1	0	0	0	4013	1725	60	3	1081	3	CTNNA2	2	80646695	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	5928436	80646695	162552678	105	95659											
CTNNA2	1496	broad.mit.edu	37	chr2	80835350	80835350	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatttattagcctacctTcaacgaattgccttgtattg	7	9	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:80835350T>G	uc010ysh.1	+	16	2342	c.2337T>G	c.(2335-2337)CTT>CTG	p.L779L	CTNNA2_uc010yse.1_Silent_p.L779L|CTNNA2_uc010ysf.1_Silent_p.L779L|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Silent_p.L411L|CTNNA2_uc010ysj.1_Silent_p.L108L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	779					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TAGCCTACCTTCAACGAATTG	0.403													G	80835350	T	G	80835350	2	3	178	1	0	0	0	0	0	0	0	1	4013	1770	62	5		5	CTNNA2	2	80835350	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	188655	80835350	162364023	106	95660											
KRCC1	51315	broad.mit.edu	37	chr2	88327464	88327464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctgtactgacatgtaCggtttctatttccacctctg	6	11	3	1	rs116606730	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:88327464C>T	uc002sso.1	-	4	1013	c.619G>A	c.(619-621)GTA>ATA	p.V207I	KRCC1_uc002ssp.1_Missense_Mutation_p.V207I	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	207	Lys-rich.|Potential.									ovary(1)	1						CTGACATGTACGGTTTCTATT	0.383													T	88327464	C	T	88327464	3	4	178	1	0	0	0	0	1	0	0	0	8441	536	19	1	164	1	KRCC1	2	88327464	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	7492114	88327464	154871909	107	95661											
SEMA4C	54910	broad.mit.edu	37	chr2	97526589	97526589	+	Frame_Shift_Del	DEL	G	G	-													ggatgcctggaggtggcgaaGggggccccccaccgggctgg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:97526589delG	uc002sxh.3	-	15	2436	c.2276delC	c.(2275-2277)CCTfs	p.P759fs	ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Frame_Shift_Del_p.P259fs|SEMA4C_uc002sxe.2_Frame_Shift_Del_p.P300fs|SEMA4C_uc002sxg.3_Frame_Shift_Del_p.P812fs	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	759	Pro-rich.|Cytoplasmic (Potential).				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			skin(2)	2						AGGTGGCGAAGGGGGCCCCCC	0.597													-	97526589	G	-	97526589	7	5	178	1	0	1	0	1	0	0	0	0	14033	1000	35	0	229	0	SEMA4C	2	97526589	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	9199125	97526589	145672784	108	95662											
SEMA4C	54910	broad.mit.edu	37	chr2	97526833	97526833	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccagcagcagcagcaCcaggcacacagcccccaggg	11	18	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:97526833C>G	uc002sxh.3	-	15	2192	c.2032G>C	c.(2032-2034)GTG>CTG	p.V678L	SEMA4C_uc002sxf.3_Missense_Mutation_p.V178L|SEMA4C_uc002sxe.2_Missense_Mutation_p.V219L|SEMA4C_uc002sxg.3_Missense_Mutation_p.V731L	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	678	Helical; (Potential).				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			skin(2)	2						AGCAGCAGCACCAGGCACACA	0.687													G	97526833	C	G	97526833	3	3	178	1	0	0	0	0	1	0	0	0	14033	507	18	5	473	5	SEMA4C	2	97526833	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	244	97526833	145672540	109	95663											
ZAP70	7535	broad.mit.edu	37	chr2	98351851	98351851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattggcgtctgccaggcCgaggccctcatgctggtcat	12	14	4	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:98351851C>T	uc002syd.1	+	10	1428	c.1221C>T	c.(1219-1221)GCC>GCT	p.A407A	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.A297A|ZAP70_uc002syf.1_Silent_p.A100A	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	407	Protein kinase.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TCTGCCAGGCCGAGGCCCTCA	0.662													T	98351851	C	T	98351851	2	4	178	1	0	0	0	0	0	0	0	1	17511	639	23	1		1	ZAP70	2	98351851	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	825018	98351851	144847522	110	95664											
TMEM131	23505	broad.mit.edu	37	chr2	98392382	98392382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcatcagccaaagagTccttcagctcatcttcctgt	5	13	6	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:98392382T>C	uc002syh.3	-	32	4473	c.4244A>G	c.(4243-4245)GAC>GGC	p.D1415G		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1415	Lys-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6						AGCCAAAGAGTCCTTCAGCTC	0.512													C	98392382	T	C	98392382	3	2	178	1	0	0	0	0	1	0	0	0	16041	1667	58	3	1447	3	TMEM131	2	98392382	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	40531	98392382	144806991	111	95665											
REV1	51455	broad.mit.edu	37	chr2	100022484	100022484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttagtatcaggactgGtcggcagatgtgcaggaaaa	13	7	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:100022484G>A	uc002tad.2	-	17	2911	c.2699C>T	c.(2698-2700)ACC>ATC	p.T900I	REV1_uc002tac.2_Missense_Mutation_p.T899I	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	900					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						ATCAGGACTGGTCGGCAGATG	0.453								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	100022484	G	A	100022484	3	1	178	1	0	0	0	0	1	0	0	0	13239	1261	44	4	1084	4	REV1	2	100022484	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1630102	100022484	143176889	112	95666											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105883890	105883890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttgtgtgtctgctggCggcacagtgggtgtgcacaa	18	7	1	0	rs139792932	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:105883890C>T	uc002tcq.2	-	12	2617	c.2533G>A	c.(2533-2535)GCC>ACC	p.A845T	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.A614T|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.A845T|uc002tcp.2_5'Flank	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	845					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)|skin(1)	2						TGTCTGCTGGCGGCACAGTGG	0.517													T	105883890	C	T	105883890	3	4	178	1	0	0	0	0	1	0	0	0	15821	768	27	1	53	1	TGFBRAP1	2	105883890	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5861406	105883890	137315483	113	95667											
CCDC138	165055	broad.mit.edu	37	chr2	109411120	109411120	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagacaagcggagtttactTccacatcagatcagtcagat	8	10	4	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:109411120T>C	uc002ten.1	+	5	579	c.519T>C	c.(517-519)CTT>CTC	p.L173L	CCDC138_uc002teo.1_Silent_p.L173L|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	173											0						GGAGTTTACTTCCACATCAGA	0.388													C	109411120	T	C	109411120	2	2	178	1	0	0	0	0	0	0	0	1	2772	1770	62	3		3	CCDC138	2	109411120	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	3527230	109411120	133788253	114	95668											
BUB1	699	broad.mit.edu	37	chr2	111408256	111408256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaacgcccaactctgcCtcacaggtaagtaccccacc	6	19	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:111408256C>A	uc002tgc.2	-	18	2182	c.2070G>T	c.(2068-2070)GAG>GAT	p.E690D	BUB1_uc010yxh.1_Missense_Mutation_p.E670D|BUB1_uc010fkb.2_Missense_Mutation_p.E690D	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	690					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			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CCAACTCTGCCTCACAGGTAA	0.527													A	111408256	C	A	111408256	3	1	178	1	0	0	0	0	1	0	0	0	1570	680	24	5	1219	5	BUB1	2	111408256	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1997136	111408256	131791117	115	95669											
GLI2	2736	broad.mit.edu	37	chr2	121708914	121708914	+	Frame_Shift_Del	DEL	C	C	-													tggggagtcccccttcaacgCcccccacccgtacgtgaacc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:121708913_121708913GC>G	uc010flp.3	+	2	379	c.349_349GC>G	c.(349-351)gccfs	p.A117fs	GLI2_uc010yyu.1_Frame_Shift_Del_p.A117fs|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Frame_Shift_Del_p.A117fs	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	117					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)				CCCCTTCAACGCCCCCCACCC	0.672													-	121708914	C	-	121708914	7	5	178	1	0	1	0	1	0	0	0	0	6438	739	26	0	360	0	GLI2	2	121708914	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	10300658	121708914	121490459	116	95670											
IWS1	55677	broad.mit.edu	37	chr2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-													cactgcgtgtgcagatctgcTttttttccttatatctgtga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:128238675_128238675CT>C	uc002ton.2	-	13	2708	c.2405_2405AG>G	c.(2404-2406)agcfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	802					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)		TGCAGATCTGCTTTTTTTCCT	0.423													-	128238676	T	-	128238676	7	5	178	1	0	1	0	1	0	0	0	0	7931	1609	56	0	59	0	IWS1	2	128238676	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	6529762	128238676	114960697	117	95671											
IMP4	92856	broad.mit.edu	37	chr2	131102231	131102231	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcccactgagttacgcCgagaggctctggccttacag	11	12	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:131102231C>T	uc002tra.1	+	3	159	c.142C>T	c.(142-144)CGA>TGA	p.R48*	CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank	NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	48	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					TGAGTTACGCCGAGAGGCTCT	0.552													T	131102231	C	T	131102231	4	4	178	1	0	0	0	0	0	1	0	0	7720	644	23	1	152	1	IMP4	2	131102231	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2863555	131102231	112097142	118	95672											
FAM123C	205147	broad.mit.edu	37	chr2	131521723	131521723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaacgaacagcccccggCcgcatggcctccaaggcaag	10	17	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:131521723C>T	uc002trw.2	+	2	2268	c.2078C>T	c.(2077-2079)GCC>GTC	p.A693V	FAM123C_uc010fmv.2_Missense_Mutation_p.A693V|FAM123C_uc010fms.1_Missense_Mutation_p.A693V|FAM123C_uc010fmt.1_Missense_Mutation_p.A693V|FAM123C_uc010fmu.1_Missense_Mutation_p.A693V	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	693										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGCCCCCGGCCGCATGGCCT	0.652													T	131521723	C	T	131521723	3	4	178	1	0	0	0	0	1	0	0	0	5424	739	26	2	2080	2	FAM123C	2	131521723	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	419492	131521723	111677650	119	95673											
THSD7B	80731	broad.mit.edu	37	chr2	138030222	138030222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaagatgtttccttgtgtCctgtatatcggcaagtagtt	11	6	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:138030222C>T	uc002tva.1	+	10	2293	c.2293C>T	c.(2293-2295)CCT>TCT	p.P765S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.P655S	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCCTTGTGTCCTGTATATCG	0.383													T	138030222	C	T	138030222	3	4	178	1	0	0	0	0	1	0	0	0	15877	855	30	4	2331	4	THSD7B	2	138030222	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6508499	138030222	105169151	120	95674											
KYNU	8942	broad.mit.edu	37	chr2	143742717	143742717	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactctacttacatgactGgggagttgattttgcctgct	10	8	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:143742717G>A	uc002tvl.2	+	9	924	c.794G>A	c.(793-795)TGG>TAG	p.W265*	KYNU_uc002tvk.2_Nonsense_Mutation_p.W265*|KYNU_uc010fnm.2_Nonsense_Mutation_p.W265*	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	265					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			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTACATGACTGGGGAGTTGAT	0.378													A	143742717	G	A	143742717	4	1	178	1	0	0	0	0	0	1	0	0	8587	1357	47	4	824	4	KYNU	2	143742717	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5712495	143742717	99456656	121	95675											
ACVR2A	92	broad.mit.edu	37	chr2	148684747	148684747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagaattacccagatGcagagactaacaaatattat	8	6	0	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:148684747G>A	uc002twg.2	+	12	1715	c.1446G>A	c.(1444-1446)ATG>ATA	p.M482I	ACVR2A_uc010zbn.1_Missense_Mutation_p.M374I|ACVR2A_uc002twh.2_Missense_Mutation_p.M482I	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	482	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTACCCAGATGCAGAGACTAA	0.423													A	148684747	G	A	148684747	3	1	178	1	0	0	0	0	1	0	0	0	223	1319	46	2	1488	2	ACVR2A	2	148684747	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4942030	148684747	94514626	122	95676											
TNFAIP6	7130	broad.mit.edu	37	chr2	152235983	152235983	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaaatccagtcaaggaaAaaatacaagtactacttcta	4	9	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:152235983A>C	uc002txk.2	+	6	846	c.770A>C	c.(769-771)AAA>ACA	p.K257T		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	257					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGTCAAGGAAAAAATACAAGT	0.338													C	152235983	A	C	152235983	3	2	178	1	0	0	0	0	1	0	0	0	16272	14	1	5	792	5	TNFAIP6	2	152235983	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3551236	152235983	90963390	123	95677											
GALNT13	114805	broad.mit.edu	37	chr2	155099258	155099258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgaaaaatttagaagtgCcagtaaaaattattaggatg	9	3	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:155099258C>T	uc002tyr.3	+	6	1093	c.526C>T	c.(526-528)CCA>TCA	p.P176S	GALNT13_uc002tyt.3_Missense_Mutation_p.P176S|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	176	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TTTAGAAGTGCCAGTAAAAAT	0.343													T	155099258	C	T	155099258	3	4	178	1	0	0	0	0	1	0	0	0	6211	739	26	2	540	2	GALNT13	2	155099258	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2863275	155099258	88100115	124	95678											
SCN2A	6326	broad.mit.edu	37	chr2	166166916	166166916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtgttctgtctaagcGtgtttgcgctaataggattg	12	6	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:166166916G>A	uc002udc.2	+	7	1071	c.781G>A	c.(781-783)GTG>ATG	p.V261M	SCN2A_uc002udd.2_Missense_Mutation_p.V261M|SCN2A_uc002ude.2_Missense_Mutation_p.V261M	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	261	I.|Helical; Name=S5 of repeat I; (Potential).		V -> M (in BFIC3).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CTGTCTAAGCGTGTTTGCGCT	0.418													A	166166916	G	A	166166916	3	1	178	1	0	0	0	0	1	0	0	0	13916	1145	40	1	899	1	SCN2A	2	166166916	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	11067658	166166916	77032457	125	95679											
XIRP2	129446	broad.mit.edu	37	chr2	167992440	167992440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaaattgagcgaagtTtgtgctcgccagcttttaag	12	6	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:167992440T>G	uc002udx.2	+	2	448	c.430T>G	c.(430-432)TTG>GTG	p.L144V	XIRP2_uc010fpn.2_Missense_Mutation_p.L144V|XIRP2_uc010fpo.2_Missense_Mutation_p.L144V|XIRP2_uc010fpp.2_Missense_Mutation_p.L144V|XIRP2_uc002udy.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGAGCGAAGTTTGTGCTCGCC	0.428													G	167992440	T	G	167992440	3	3	178	1	0	0	0	0	1	0	0	0	17427	1838	64	5	436	5	XIRP2	2	167992440	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1825524	167992440	75206933	126	95680											
XIRP2	129446	broad.mit.edu	37	chr2	168102105	168102105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactggatcagatttctgaAgaatcacataatattatgcc	6	9	3	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:168102105A>C	uc002udx.2	+	8	4221	c.4203A>C	c.(4201-4203)GAA>GAC	p.E1401D	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1226D|XIRP2_uc010fpq.2_Missense_Mutation_p.E1179D|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1226					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGATTTCTGAAGAATCACATA	0.338													C	168102105	A	C	168102105	3	2	178	1	0	0	0	0	1	0	0	0	17427	69	3	5	4233	5	XIRP2	2	168102105	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	109665	168102105	75097268	127	95681											
SP5	389058	broad.mit.edu	37	chr2	171572954	171572954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccgccgacatgccggcGcactcgccaggcgcactgcc	13	18	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:171572954G>A	uc002uge.2	+	2	403	c.237G>A	c.(235-237)GCG>GCA	p.A79A	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACATGCCGGCGCACTCGCCAG	0.647													A	171572954	G	A	171572954	2	1	178	1	0	0	0	0	0	0	0	1	14967	1074	38	1		1	SP5	2	171572954	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3470849	171572954	71626419	128	95682											
HOXD12	3238	broad.mit.edu	37	chr2	176965452	176965452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgtatgaagaagaagcgCgtggtgcttcgggagcaggc	18	7	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:176965452C>T	uc010zev.1	+	2	777	c.777C>T	c.(775-777)CGC>CGT	p.R259R	HOXD12_uc010zew.1_3'UTR	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	259	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGAAGAAGCGCGTGGTGCTTC	0.582													T	176965452	C	T	176965452	2	4	178	1	0	0	0	0	0	0	0	1	7321	755	27	1		1	HOXD12	2	176965452	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5392498	176965452	66233921	129	95683											
TTN	7273	broad.mit.edu	37	chr2	179427391	179427391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattttcaattctgaaagtaGttttagtgcaattatttgta	7	3	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:179427391G>T	uc010zfg.1	-	275	75988	c.75764C>A	c.(75763-75765)ACT>AAT	p.T25255N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18950N|TTN_uc010zfi.1_Missense_Mutation_p.T18883N|TTN_uc010zfj.1_Missense_Mutation_p.T18758N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26182							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAAAGTAGTTTTAGTGCA	0.363													T	179427391	G	T	179427391	3	4	178	1	0	0	0	0	1	0	0	0	16732	1029	36	5	24659	5	TTN	2	179427391	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2461939	179427391	63771982	130	95684											
TTN	7273	broad.mit.edu	37	chr2	179584282	179584282	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctcattctactcaccAgaaacatggacggatacagt	6	10	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:179584282A>G	uc010zfg.1	-	79	20429	c.20205T>C	c.(20203-20205)TCT>TCC	p.S6735S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3396S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7662							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACTCACCAGAAACATGGA	0.393													G	179584282	A	G	179584282	2	3	178	1	0	0	0	0	0	0	0	1	16732	202	7	3		3	TTN	2	179584282	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	156891	179584282	63615091	131	95685											
NCKAP1	10787	broad.mit.edu	37	chr2	183792931	183792931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgatggctttggccaAgcaatgtatgttgttgcaat	12	6	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:183792931A>G	uc002upc.2	-	29	3496	c.3094T>C	c.(3094-3096)TTG>CTG	p.L1032L	NCKAP1_uc002upb.2_Silent_p.L1038L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	1032					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTTTGGCCAAGCAATGTATG	0.378													G	183792931	A	G	183792931	2	3	178	1	0	0	0	0	0	0	0	1	10221	69	3	3		3	NCKAP1	2	183792931	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	4208649	183792931	59406442	132	95686											
ZNF804A	91752	broad.mit.edu	37	chr2	185802457	185802457	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtagacaacattcacattcTtattcttcagatgaaagttt	5	8	4	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:185802457T>A	uc002uph.2	+	4	2928	c.2334T>A	c.(2332-2334)TCT>TCA	p.S778S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	778						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ATTCACATTCTTATTCTTCAG	0.358													A	185802457	T	A	185802457	2	1	178	1	0	0	0	0	0	0	0	1	18167	1596	56	5		5	ZNF804A	2	185802457	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2009526	185802457	57396916	133	95687											
C2orf60	129450	broad.mit.edu	37	chr2	200800752	200800752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctgggttatctatattcAgtacttctgatttagtacct	7	7	4	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:200800752A>G	uc002uvi.3	-	7	859	c.593T>C	c.(592-594)CTG>CCG	p.L198P	C2orf60_uc002uvj.3_Missense_Mutation_p.L35P|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Missense_Mutation_p.L35P	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	198	JmjC.				wybutosine biosynthetic process		iron ion 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|protein homodimerization activity|tRNA binding				0						ATCTATATTCAGTACTTCTGA	0.303													G	200800752	A	G	200800752	3	3	178	1	0	0	0	0	1	0	0	0	2179	188	7	3	362	3	C2orf60	2	200800752	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	14998295	200800752	42398621	134	95688											
BZW1	9689	broad.mit.edu	37	chr2	201681935	201681935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgcatccattcttaataGcctttataatgaaaatttgg	5	6	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:201681935G>A	uc010zhg.1	+	6	657	c.605G>A	c.(604-606)AGC>AAC	p.S202N	BZW1_uc002uwc.2_Missense_Mutation_p.S170N|BZW1_uc010zhh.1_Missense_Mutation_p.S170N	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						ATTCTTAATAGCCTTTATAAT	0.398													A	201681935	G	A	201681935	3	1	178	1	0	0	0	0	1	0	0	0	1578	971	34	2	527	2	BZW1	2	201681935	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	881183	201681935	41517438	135	95689											
ORC2L	4999	broad.mit.edu	37	chr2	201784950	201784950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcatccttaccttgcAttaggggtaaggcttcgtaa	10	8	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:201784950A>G	uc002uwr.2	-	15	1718	c.1461T>C	c.(1459-1461)AAT>AAC	p.N487N	ORC2L_uc010zhj.1_Silent_p.N487N	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	487					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						CTTACCTTGCATTAGGGGTAA	0.378													G	201784950	A	G	201784950	2	3	178	1	0	0	0	0	0	0	0	1	11262	214	8	3		3	ORC2L	2	201784950	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	103015	201784950	41414423	136	95690											
CDK15	65061	broad.mit.edu	37	chr2	202712142	202712142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgaaatgttccagggtcAacctttgtttcctggggttt	10	7	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:202712142A>G	uc002uyt.2	+	9	939	c.890A>G	c.(889-891)CAA>CGA	p.Q297R	CDK15_uc010ftm.2_Missense_Mutation_p.Q162R|CDK15_uc002uys.2_Missense_Mutation_p.Q246R|CDK15_uc010ftn.1_Missense_Mutation_p.Q246R|CDK15_uc010fto.1_Missense_Mutation_p.Q276R	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	297	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	TTCCAGGGTCAACCTTTGTTT	0.373													G	202712142	A	G	202712142	3	3	178	1	0	0	0	0	1	0	0	0	3131	130	5	3	767	3	CDK15	2	202712142	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	927192	202712142	40487231	137	95691											
BMPR2	659	broad.mit.edu	37	chr2	203242245	203242245	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggtgccctggctaccatgGaccatcctgctggtcagcac	12	15	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:203242245G>A	uc002uzf.3	+	1	1196	c.48G>A	c.(46-48)TGG>TGA	p.W16*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.W16*|BMPR2_uc002uze.2_Nonsense_Mutation_p.W16*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	16					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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GGCTACCATGGACCATCCTGC	0.662													A	203242245	G	A	203242245	4	1	178	1	0	0	0	0	0	1	0	0	1471	1183	41	4	50	4	BMPR2	2	203242245	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	530103	203242245	39957128	138	95692											
BMPR2	659	broad.mit.edu	37	chr2	203407105	203407105	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccacttttgaggatatgCaggttctcgtgtctagggaa	11	8	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:203407105C>T	uc002uzf.3	+	10	2496	c.1348C>T	c.(1348-1350)CAG>TAG	p.Q450*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.Q450*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	450	Protein kinase.|Cytoplasmic (Potential).				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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TGAGGATATGCAGGTTCTCGT	0.423													T	203407105	C	T	203407105	4	4	178	1	0	0	0	0	0	1	0	0	1471	711	25	2	1386	2	BMPR2	2	203407105	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	164860	203407105	39792268	139	95693											
INO80D	54891	broad.mit.edu	37	chr2	206869417	206869417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcgaagtggtgggtggcGtggatagggaagtggaaaga	20	2	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:206869417G>A	uc002vaz.3	-	11	3164	c.2759C>T	c.(2758-2760)ACG>ATG	p.T920M		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGTGGGTGGCGTGGATAGGGA	0.577													A	206869417	G	A	206869417	3	1	178	1	0	0	0	0	1	0	0	0	7749	1145	40	1	328	1	INO80D	2	206869417	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3462312	206869417	36329956	140	95694											
CRYGC	1420	broad.mit.edu	37	chr2	208994242	208994242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggggtactcccctcgccGcagcaagtattgttgacctt	11	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:208994242G>A	uc002vco.3	-	2	213	c.175C>T	c.(175-177)CGG>TGG	p.R59W		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	59	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCCCCTCGCCGCAGCAAGTAT	0.567													A	208994242	G	A	208994242	3	1	178	1	0	0	0	0	1	0	0	0	3916	1086	38	1	357	1	CRYGC	2	208994242	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2124825	208994242	34205131	141	95695											
ZNF142	7701	broad.mit.edu	37	chr2	219507069	219507069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccaggcccacccgctcCcgggcagcaaagtcacagag	10	16	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:219507069C>T	uc002vin.2	-	8	4606	c.4170G>A	c.(4168-4170)CGG>CGA	p.R1390R	ZNF142_uc002vil.2_Silent_p.R1351R|ZNF142_uc010fvt.2_Silent_p.R1227R|ZNF142_uc002vim.2_Silent_p.R1227R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1390	C2H2-type 23.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		CCACCCGCTCCCGGGCAGCAA	0.652													T	219507069	C	T	219507069	2	4	178	1	0	0	0	0	0	0	0	1	17728	610	22	4		4	ZNF142	2	219507069	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	10512827	219507069	23692304	142	95696											
CCDC108	255101	broad.mit.edu	37	chr2	219892428	219892428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagttggggtgaggcgGctggaagtgcaggcgcatgg	21	6	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:219892428G>A	uc002vjl.1	-	13	2239	c.2155C>T	c.(2155-2157)CCG>TCG	p.P719S	CCDC108_uc010fwa.1_Missense_Mutation_p.P162S|CCDC108_uc010zkp.1_Missense_Mutation_p.P708S|CCDC108_uc010zkq.1_Missense_Mutation_p.P654S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	719						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		GGGTGAGGCGGCTGGAAGTGC	0.612													A	219892428	G	A	219892428	3	1	178	1	0	0	0	0	1	0	0	0	2743	1203	42	2	3714	2	CCDC108	2	219892428	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	385359	219892428	23306945	143	95697											
STK11IP	114790	broad.mit.edu	37	chr2	220478946	220478946	+	Frame_Shift_Del	DEL	C	C	-													tgccacagaggaggaggtcaCcccccagcaccggctctggt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:220478945_220478945AC>A	uc002vml.3	+	21	2855	c.2812_2812AC>A	c.(2812-2814)accfs	p.T938fs		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	938					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)		GGAGGAGGTCACCCCCCAGCA	0.602													-	220478946	C	-	220478946	7	5	178	1	0	1	0	1	0	0	0	0	15287	507	18	0	2899	0	STK11IP	2	220478946	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	586518	220478946	22720427	144	95698											
COL4A3	1285	broad.mit.edu	37	chr2	228118042	228118042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagagtgataggacatAaaggagagcgggtaatttaa	14	2	0	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:228118042A>G	uc002vom.1	+	12	838	c.676A>G	c.(676-678)AAA>GAA	p.K226E	COL4A3_uc002von.1_Missense_Mutation_p.K226E|COL4A3_uc002voo.1_Missense_Mutation_p.K226E|COL4A3_uc002vop.1_Missense_Mutation_p.K226E|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	226	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			skin(2)|ovary(1)	3		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)		GATAGGACATAAAGGAGAGCG	0.353													G	228118042	A	G	228118042	3	3	178	1	0	0	0	0	1	0	0	0	3691	363	13	3	722	3	COL4A3	2	228118042	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	7639096	228118042	15081331	145	95699											
COL4A3	1285	broad.mit.edu	37	chr2	228141189	228141189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctggcccccaaggtccAcctggtaagtatcctctgcc	8	17	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:228141189A>G	uc002vom.1	+	27	2178	c.2016A>G	c.(2014-2016)CCA>CCG	p.P672P	COL4A3_uc002von.1_Silent_p.P672P|COL4A3_uc002voo.1_Silent_p.P672P|COL4A3_uc002vop.1_Silent_p.P672P|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	672	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			skin(2)|ovary(1)	3		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)		CCCAAGGTCCACCTGGTAAGT	0.517													G	228141189	A	G	228141189	2	3	178	1	0	0	0	0	0	0	0	1	3691	146	6	3		3	COL4A3	2	228141189	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	23147	228141189	15058184	146	95700											
SP100	6672	broad.mit.edu	37	chr2	231328834	231328834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaaggagggccaagaAgccacttgctcacgacccca	11	12	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:231328834A>G	uc002vqt.2	+	11	1251	c.1110A>G	c.(1108-1110)GAA>GAG	p.E370E	SP100_uc002vqs.2_Silent_p.E370E|SP100_uc002vqu.1_Silent_p.E370E|SP100_uc002vqq.1_Silent_p.E370E|SP100_uc002vqr.1_Silent_p.E345E|SP100_uc010zmc.1_Silent_p.E345E|SP100_uc002vqv.1_Silent_p.E334E	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	370					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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		AGGGCCAAGAAGCCACTTGCT	0.428													G	231328834	A	G	231328834	2	3	178	1	0	0	0	0	0	0	0	1	14960	69	3	3		3	SP100	2	231328834	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3187645	231328834	11870539	147	95701											
B3GNT7	93010	broad.mit.edu	37	chr2	232263248	232263248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtcctgcagcacgctcGgcccattcgcaggaaagaca	11	14	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:232263248G>A	uc002vrs.2	+	2	998	c.818G>A	c.(817-819)CGG>CAG	p.R273Q		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	273	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		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)		CAGCACGCTCGGCCCATTCGC	0.602													A	232263248	G	A	232263248	3	1	178	1	0	0	0	0	1	0	0	0	1262	1116	39	1	824	1	B3GNT7	2	232263248	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	934414	232263248	10936125	148	95702											
DIS3L2	129563	broad.mit.edu	37	chr2	233201245	233201245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagccctcaagtacagcGccatcctgaagcggccaggc	10	17	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:233201245G>T	uc010fxz.2	+	21	2839	c.2563G>T	c.(2563-2565)GCC>TCC	p.A855S	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	855							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		CAAGTACAGCGCCATCCTGAA	0.642													T	233201245	G	T	233201245	3	4	178	1	0	0	0	0	1	0	0	0	4537	1087	38	5	2641	5	DIS3L2	2	233201245	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	937997	233201245	9998128	149	95703											
NEU2	4759	broad.mit.edu	37	chr2	233898990	233898990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccagggccaatgtgacGcggctgtgccaagtcaccag	13	13	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:233898990G>A	uc010zmn.1	+	2	366	c.366G>A	c.(364-366)ACG>ACA	p.T122T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	122							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCAATGTGACGCGGCTGTGCC	0.632													A	233898990	G	A	233898990	2	1	178	1	0	0	0	0	0	0	0	1	10342	1074	38	1		1	NEU2	2	233898990	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	697745	233898990	9300383	150	95704											
IQCA1	79781	broad.mit.edu	37	chr2	237272542	237272542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagatggcatggaccaGcattttcttccctaccccag	10	13	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr2:237272542G>A	uc002vvz.1	-	15	1932	c.1750C>T	c.(1750-1752)CTG>TTG	p.L584L	IQCA1_uc002vwb.2_Silent_p.L592L|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.L543L	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	584							ATP binding			ovary(1)	1						GCATGGACCAGCATTTTCTTC	0.502													A	237272542	G	A	237272542	2	1	178	1	0	0	0	0	0	0	0	1	7802	962	34	2		2	IQCA1	2	237272542	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3373552	237272542	5926831	151	95705											
FANCD2	2177	broad.mit.edu	37	chr3	10074520	10074520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttctattttcagaaacCaggaagcaaccactttccaa	4	10	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:10074520C>T	uc003buw.2	+	3	147	c.69C>T	c.(67-69)ACC>ACT	p.T23T	FANCD2_uc003bux.1_Silent_p.T23T|FANCD2_uc003buy.1_Silent_p.T23T|FANCD2_uc003buv.2_Silent_p.T23T	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	23	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTTCAGAAACCAGGAAGCAAC	0.303			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	10074520	C	T	10074520	2	4	178	1	0	0	0	0	0	0	0	1	5665	581	21	4		4	FANCD2	3	10074520	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08		10074520	187947910	152	95706											
TGFBR2	7048	broad.mit.edu	37	chr3	30713390	30713390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaacatcaaccacaacAcagagctgctgcccattgag	6	15	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:30713390A>G	uc003ceo.2	+	4	1097	c.715A>G	c.(715-717)ACA>GCA	p.T239A	TGFBR2_uc003cen.2_Missense_Mutation_p.T264A	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	239	Cytoplasmic (Potential).				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|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 I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						CAACCACAACACAGAGCTGCT	0.542													G	30713390	A	G	30713390	3	3	178	1	0	0	0	0	1	0	0	0	15819	159	6	3	808	3	TGFBR2	3	30713390	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	20638870	30713390	167309040	153	95707											
CMTM6	54918	broad.mit.edu	37	chr3	32529529	32529529	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagtaatataaaaatcCtatgcatacatacaaaacac	2	10	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:32529529C>A	uc003cfa.1	-	3	482	c.316_splice	c.e3-1	p.D106_splice		NM_017801	NP_060271	Q9NX76	CKLF6_HUMAN	CKLF-like MARVEL transmembrane domain containing						chemotaxis	extracellular space|integral to membrane	cytokine activity				0						TATAAAAATCCTATGCATACA	0.333													A	32529529	C	A	32529529	5	1	178	1	0	0	0	0	0	0	1	0	3587	695	24	5	244	5	CMTM6	3	32529529	Splice_Site	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1816139	32529529	165492901	154	95708											
VILL	50853	broad.mit.edu	37	chr3	38035802	38035802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccagcgacctgcactaCtgggtcgggaagcaggcggg	17	12	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:38035802C>T	uc003chj.2	+	4	472	c.186C>T	c.(184-186)TAC>TAT	p.Y62Y	VILL_uc003chk.1_Silent_p.Y62Y|VILL_uc003chl.2_Silent_p.Y62Y|VILL_uc010hgu.2_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	62	Gelsolin-like 1.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCTGCACTACTGGGTCGGGA	0.697													T	38035802	C	T	38035802	2	4	178	1	0	0	0	0	0	0	0	1	17162	576	20	4		4	VILL	3	38035802	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5506273	38035802	159986628	155	95709											
TTC21A	199223	broad.mit.edu	37	chr3	39179046	39179046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagatccccaaggcgCgtatgcagttgaagcgcctg	13	11	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:39179046C>T	uc003cjc.2	+	26	3718	c.3541C>T	c.(3541-3543)CGT>TGT	p.R1181C	TTC21A_uc003cje.2_Missense_Mutation_p.R1182C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R1133C|TTC21A_uc003cjf.2_Missense_Mutation_p.R302C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1181							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCCAAGGCGCGTATGCAGTT	0.607													T	39179046	C	T	39179046	3	4	178	1	0	0	0	0	1	0	0	0	16684	768	27	1	3646	1	TTC21A	3	39179046	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1143244	39179046	158843384	156	95710											
MYRIP	25924	broad.mit.edu	37	chr3	40085751	40085751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggtctgctgcgtctgCcagcaagcgaggtgagtggc	17	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:40085751C>T	uc003cka.2	+	3	456	c.321C>T	c.(319-321)TGC>TGT	p.C107C	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.C107C|MYRIP_uc010hhw.2_Missense_Mutation_p.A64V|MYRIP_uc010hhx.1_Silent_p.C107C	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	107	RabBD.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCTGCGTCTGCCAGCAAGCGA	0.527													T	40085751	C	T	40085751	2	4	178	1	0	0	0	0	0	0	0	1	10100	747	26	2		2	MYRIP	3	40085751	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	906705	40085751	157936679	157	95711											
RPL14	9045	broad.mit.edu	37	chr3	40500174	40500174	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcaagtgaggagacaggcCatgcctttcaagtgcatgca	11	10	2	2	rs61748304	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:40500174C>A	uc003ckg.2	+	3	198	c.147C>A	c.(145-147)GCC>GCA	p.A49A	RPL14_uc003ckh.2_Silent_p.A49A|RPL14_uc003cki.2_5'UTR	NM_003973	NP_003964	P50914	RL14_HUMAN	ribosomal protein L14	49					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGAGACAGGCCATGCCTTTCA	0.453													A	40500174	C	A	40500174	2	1	178	1	0	0	0	0	0	0	0	1	13561	581	21	5		5	RPL14	3	40500174	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	414423	40500174	157522256	158	95712											
ULK4	54986	broad.mit.edu	37	chr3	41607536	41607536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgttcataaagtagttccAtattcgaatctttgcaggca	7	8	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:41607536A>G	uc003ckv.3	-	32	3407	c.3206T>C	c.(3205-3207)ATG>ACG	p.M1069T		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1069							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGTAGTTCCATATTCGAATC	0.313													G	41607536	A	G	41607536	3	3	178	1	0	0	0	0	1	0	0	0	16975	217	8	3	645	3	ULK4	3	41607536	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1107362	41607536	156414894	159	95713											
ZBTB47	92999	broad.mit.edu	37	chr3	42705882	42705884	+	In_Frame_Del	DEL	AGG	AGG	-													caacatgctcaaggcccacaAggagaagtgcttccgcgtca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:42705882_42705884delAGG	uc003clu.1	+	5	1010_1012	c.908_910delAGG	c.(907-912)AAGGAG>AAG	p.E304del		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	304	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AAGGCCCACAAGGAGAAGTGCTT	0.468													-	42705884	AGG	-	42705882	7	5	178	1	0	1	0	1	0	0	0	0	17545	72	3	0	2054	0	ZBTB47	3	42705882	In_Frame_Del	DEL	AGG	TCGA-CG-4465-01A-01D-1158-08	1098346	42705882	155316548	160	95714											
CLEC3B	7123	broad.mit.edu	37	chr3	45077050	45077050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaggtgcacatgaaatgCtttctggccttcacccagac	8	13	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:45077050C>T	uc003cok.3	+	3	339	c.243C>T	c.(241-243)TGC>TGT	p.C81C	CLEC3B_uc003col.2_Silent_p.C39C	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	81	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATGAAATGCTTTCTGGCCT	0.632													T	45077050	C	T	45077050	2	4	178	1	0	0	0	0	0	0	0	1	3511	805	28	2		2	CLEC3B	3	45077050	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2371168	45077050	152945380	161	95715											
PRKAR2A	5576	broad.mit.edu	37	chr3	48789703	48789703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtactgccccttatggcaGcgggcaatctcgacctcctg	10	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:48789703G>A	uc010hki.1	-	10	1228	c.987C>T	c.(985-987)CGC>CGT	p.R329R	PRKAR2A_uc003cux.1_Silent_p.R329R|PRKAR2A_uc003cuy.1_Silent_p.R307R	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	329	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CCTTATGGCAGCGGGCAATCT	0.517													A	48789703	G	A	48789703	2	1	178	1	0	0	0	0	0	0	0	1	12505	958	34	2		2	PRKAR2A	3	48789703	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3712653	48789703	149232727	162	95716											
RHOA	387	broad.mit.edu	37	chr3	49412898	49412898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatatctgccacaTagttctcaaacactgtgggc	7	14	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:49412898T>C	uc003cwu.2	-	2	401	c.125A>G	c.(124-126)TAT>TGT	p.Y42C	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				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			ovary(2)	2				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)	ATCTGCCACATAGTTCTCAAA	0.433													C	49412898	T	C	49412898	3	2	178	1	0	0	0	0	1	0	0	0	13331	1406	49	3	472	3	RHOA	3	49412898	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	623195	49412898	148609532	163	95717											
APEH	327	broad.mit.edu	37	chr3	49719319	49719319	+	Splice_Site	DEL	G	G	-													ccctccgctccctgtctgcaGgggggccccattcatccttt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:49719318_49719318AG>A	uc010hkw.1	+	17	1923	c.1523_splice	c.e17-2	p.G508_splice	APEH_uc003cxf.3_Splice_Site_p.G508_splice	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	508					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)		CCCTGTCTGCAGGGGGGCCCC	0.607													-	49719319	G	-	49719319	8	5	178	1	0	1	0	1	0	0	1	0	768	1014	35	0	1588	0	APEH	3	49719319	Splice_Site	DEL	G	TCGA-CG-4465-01A-01D-1158-08	306421	49719319	148303111	164	95718											
SLC38A3	10991	broad.mit.edu	37	chr3	50253006	50253006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgagcagctgggctaccGtgcctttgggaccccaggaa	13	12	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:50253006G>A	uc003cyn.3	+	6	545	c.404G>A	c.(403-405)CGT>CAT	p.R135H	SLC38A3_uc011bdl.1_Missense_Mutation_p.R110H|SLC38A3_uc011bdm.1_Missense_Mutation_p.R66H	NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	135					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CTGGGCTACCGTGCCTTTGGG	0.627													A	50253006	G	A	50253006	3	1	178	1	0	0	0	0	1	0	0	0	14605	1145	40	1	422	1	SLC38A3	3	50253006	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	533687	50253006	147769424	165	95719											
DOCK3	1795	broad.mit.edu	37	chr3	51263118	51263118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacctaaccctggagaagGgggatttcgagagaggagga	16	6	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:51263118G>A	uc011bds.1	+	15	1314	c.1291G>A	c.(1291-1293)GGG>AGG	p.G431R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	431	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTGGAGAAGGGGGATTTCGA	0.463													A	51263118	G	A	51263118	3	1	178	1	0	0	0	0	1	0	0	0	4688	1232	43	4	1349	4	DOCK3	3	51263118	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1010112	51263118	146759312	166	95720											
DOCK3	1795	broad.mit.edu	37	chr3	51392352	51392352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccatgactacgagaggCtggaggccttccagcagagg	16	10	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:51392352C>T	uc011bds.1	+	41	4170	c.4147C>T	c.(4147-4149)CTG>TTG	p.L1383L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1383	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTACGAGAGGCTGGAGGCCTT	0.567													T	51392352	C	T	51392352	2	4	178	1	0	0	0	0	0	0	0	1	4688	796	28	2		2	DOCK3	3	51392352	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	129234	51392352	146630078	167	95721											
RBM15B	29890	broad.mit.edu	37	chr3	51430610	51430610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagccctgggaagagaggCggaaacggagaagcctttcc	14	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:51430610C>T	uc003dbd.2	+	1	1880	c.1780C>T	c.(1780-1782)CGG>TGG	p.R594W		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	594	Nuclear localization signal (Potential).				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				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAAGAGAGGCGGAAACGGAG	0.612													T	51430610	C	T	51430610	3	4	178	1	0	0	0	0	1	0	0	0	13117	759	27	1	1782	1	RBM15B	3	51430610	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	38258	51430610	146591820	168	95722											
CACNA2D3	55799	broad.mit.edu	37	chr3	54157605	54157605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgctaagtactccggttCccagcttctgcaaaaggtaa	9	11	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:54157605C>T	uc003dhf.2	+	2	236	c.188C>T	c.(187-189)TCC>TTC	p.S63F	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	63	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACTCCGGTTCCCAGCTTCTG	0.488													T	54157605	C	T	54157605	3	4	178	1	0	0	0	0	1	0	0	0	2550	855	30	4	194	4	CACNA2D3	3	54157605	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2726995	54157605	143864825	169	95723											
CCDC66	285331	broad.mit.edu	37	chr3	56600690	56600691	+	Frame_Shift_Ins	INS	-	-	A													gaacattatgggattattcaINSaaaaaactgaaatggtttca					rs148949812	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:56600689_56600690C>CA	uc003dhz.3	+	4	699_700	c.612_613C>CA	c.(610-615)ttcaaafs	p.F204fs	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Frame_Shift_Ins_p.F170fs|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dhv.2_Non-coding_Transcript|CCDC66_uc003dhw.2_Frame_Shift_Ins_p.F204fs	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	204										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)		TGGGATTATTCAAAAAAACTGA	0.307													A	56600691	-	A	56600690	7	5	178	1	0	1	1	0	0	0	0	0	2838	131	5	0	631	0	CCDC66	3	56600690	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	2443085	56600690	141421740	170	95724											
C3orf63	23272	broad.mit.edu	37	chr3	56658620	56658620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgaagtcttcagcagttGcaaccactattccattatct	6	11	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:56658620G>A	uc003did.3	-	22	4288	c.4187C>T	c.(4186-4188)GCA>GTA	p.A1396V	C3orf63_uc003dib.3_Missense_Mutation_p.A515V|C3orf63_uc003dic.3_Missense_Mutation_p.A1020V|C3orf63_uc003die.3_Missense_Mutation_p.A1457V	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1457										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TTCAGCAGTTGCAACCACTAT	0.333													A	56658620	G	A	56658620	3	1	178	1	0	0	0	0	1	0	0	0	2239	1319	46	2	710	2	C3orf63	3	56658620	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	57930	56658620	141363810	171	95725											
FLNB	2317	broad.mit.edu	37	chr3	58139223	58139223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgccccaggagatgggCgtgcacacggtcagcgtcaa	14	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:58139223C>T	uc003djj.2	+	39	6654	c.6489C>T	c.(6487-6489)GGC>GGT	p.G2163G	FLNB_uc010hne.2_Silent_p.G2194G|FLNB_uc003djk.2_Silent_p.G2152G|FLNB_uc010hnf.2_Silent_p.G2139G|FLNB_uc003djl.2_Silent_p.G1983G|FLNB_uc003djm.2_Silent_p.G1970G|FLNB_uc010hng.1_RNA	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2163	Filamin 20.|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			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGAGATGGGCGTGCACACGG	0.652													T	58139223	C	T	58139223	2	4	178	1	0	0	0	0	0	0	0	1	5934	755	27	1		1	FLNB	3	58139223	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1480603	58139223	139883207	172	95726											
ATXN7	6314	broad.mit.edu	37	chr3	63981463	63981463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatccccttccacGccctctggcctttcctcggt	5	20	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:63981463G>A	uc003dlw.3	+	12	2518	c.1965G>A	c.(1963-1965)ACG>ACA	p.T655T	ATXN7_uc003dlv.2_Silent_p.T655T|ATXN7_uc010hnv.2_Silent_p.T655T|ATXN7_uc011bfn.1_Silent_p.T510T	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	655	Ser-rich.				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				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCCCTTCCACGCCCTCTGGCC	0.522													A	63981463	G	A	63981463	2	1	178	1	0	0	0	0	0	0	0	1	1215	1074	38	1		1	ATXN7	3	63981463	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5842240	63981463	134040967	173	95727											
ADAMTS9	56999	broad.mit.edu	37	chr3	64582637	64582637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacatacaacaacacgccGctgggatccgccagcacagg	10	15	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:64582637G>A	uc003dmg.2	-	27	4080	c.4048C>T	c.(4048-4050)CGG>TGG	p.R1350W	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R1322W|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1179W|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R261W	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1350	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		ACAACACGCCGCTGGGATCCG	0.498													A	64582637	G	A	64582637	3	1	178	1	0	0	0	0	1	0	0	0	273	1086	38	1	1811	1	ADAMTS9	3	64582637	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	601174	64582637	133439793	174	95728											
LRIG1	26018	broad.mit.edu	37	chr3	66431997	66431997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagagctttggctgcctGcaggcaacgctgtgagtgtc	14	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:66431997G>A	uc003dmx.2	-	17	2690	c.2676C>T	c.(2674-2676)TGC>TGT	p.C892C	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.C512C|LRIG1_uc003dmw.2_Silent_p.C558C|LRIG1_uc010hnz.2_Silent_p.C608C|LRIG1_uc010hoa.2_Silent_p.C869C	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	892	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGGCTGCCTGCAGGCAACGC	0.537													A	66431997	G	A	66431997	2	1	178	1	0	0	0	0	0	0	0	1	8944	1311	46	2		2	LRIG1	3	66431997	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1849360	66431997	131590433	175	95729											
MINA	84864	broad.mit.edu	37	chr3	97677947	97677947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttcctcggcctccacgCtgtactctcgtgccaggggc	10	17	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:97677947C>T	uc003drz.1	-	4	1135	c.629G>A	c.(628-630)AGC>AAC	p.S210N	MINA_uc003dsa.1_Missense_Mutation_p.S210N|MINA_uc003dsb.1_Missense_Mutation_p.S210N|MINA_uc003dsc.1_Missense_Mutation_p.S210N|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	210	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						GGCCTCCACGCTGTACTCTCG	0.567													T	97677947	C	T	97677947	3	4	178	1	0	0	0	0	1	0	0	0	9586	797	28	2	796	2	MINA	3	97677947	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	31245950	97677947	100344483	176	95730											
CEP97	79598	broad.mit.edu	37	chr3	101477203	101477203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcaagccaaagatgtgCgttacgaaatccggctacgc	9	13	1	1	rs145086802		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:101477203C>T	uc003dvk.1	+	9	1780	c.1753C>T	c.(1753-1755)CGT>TGT	p.R585C	CEP97_uc010hpm.1_Missense_Mutation_p.R551C|CEP97_uc011bhf.1_Missense_Mutation_p.R526C|CEP97_uc003dvl.1_Missense_Mutation_p.R281C|CEP97_uc003dvm.1_Missense_Mutation_p.R423C	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	585	IQ.|CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						CAAAGATGTGCGTTACGAAAT	0.463													T	101477203	C	T	101477203	3	4	178	1	0	0	0	0	1	0	0	0	3263	768	27	1	1787	1	CEP97	3	101477203	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3799256	101477203	96545227	177	95731											
PVRL3	25945	broad.mit.edu	37	chr3	110837775	110837775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggaaaaggacatccgaTactctttcatattagacata	6	9	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:110837775T>C	uc003dxt.1	+	3	775	c.775T>C	c.(775-777)TAC>CAC	p.Y259H	PVRL3_uc003dxu.1_Missense_Mutation_p.Y236H	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	259	Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						GGACATCCGATACTCTTTCAT	0.318													C	110837775	T	C	110837775	3	2	178	1	0	0	0	0	1	0	0	0	12841	1406	49	3	785	3	PVRL3	3	110837775	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	9360572	110837775	87184655	178	95732											
ZBTB20	26137	broad.mit.edu	37	chr3	114057967	114057967	+	Frame_Shift_Del	DEL	G	G	-													ccgtgcaggccaccacgcctGgggggccagcgcgggcacct							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:114057967delG	uc003ebi.2	-	5	2291	c.2111delC	c.(2110-2112)CCAfs	p.P704fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P631fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	704					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CACCACGCCTGGGGGGCCAGC	0.637													-	114057967	G	-	114057967	7	5	178	1	0	1	0	1	0	0	0	0	17526	1348	47	0	118	0	ZBTB20	3	114057967	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	3220192	114057967	83964463	179	95733											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121096	119121096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccgctccgcgtgtcCgcagtcatcagcaccaacag	10	16	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:119121096C>T	uc003ecj.3	+	10	2029	c.1497C>T	c.(1495-1497)TCC>TCT	p.S499S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	499					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						TCCGCGTGTCCGCAGTCATCA	0.597													T	119121096	C	T	119121096	2	4	178	1	0	0	0	0	0	0	0	1	880	639	23	1		1	ARHGAP31	3	119121096	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5063129	119121096	78901334	180	95734											
PTPLB	201562	broad.mit.edu	37	chr3	123286614	123286614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatccatacttacctataGcacaatgtaaaatctagagg	5	8	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:123286614G>A	uc003egj.2	-	3	337	c.287C>T	c.(286-288)GCT>GTT	p.A96V		NM_198402	NP_940684	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline	96	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.1)		CTTACCTATAGCACAATGTAA	0.284													A	123286614	G	A	123286614	3	1	178	1	0	0	0	0	1	0	0	0	12777	971	34	2	497	2	PTPLB	3	123286614	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4165518	123286614	74735816	181	95735											
PLXND1	23129	broad.mit.edu	37	chr3	129284343	129284343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtagtactccagcttgCcgtgcagcgcgatggtcagc	14	11	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:129284343C>T	uc003emx.2	-	25	4461	c.4361G>A	c.(4360-4362)GGC>GAC	p.G1454D	PLXND1_uc011blb.1_Missense_Mutation_p.G122D	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1454	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CTCCAGCTTGCCGTGCAGCGC	0.637													T	129284343	C	T	129284343	3	4	178	1	0	0	0	0	1	0	0	0	12127	739	26	2	1464	2	PLXND1	3	129284343	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5997729	129284343	68738087	182	95736											
PIK3R4	30849	broad.mit.edu	37	chr3	130447425	130447425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaaagaatacacacagCcgtgttattccattttccat	5	12	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:130447425C>T	uc003enj.2	-	6	2270	c.1689G>A	c.(1687-1689)CGG>CGA	p.R563R		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	563					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						ATACACACAGCCGTGTTATTC	0.388													T	130447425	C	T	130447425	2	4	178	1	0	0	0	0	0	0	0	1	11921	726	26	2		2	PIK3R4	3	130447425	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1163082	130447425	67575005	183	95737											
CPNE4	131034	broad.mit.edu	37	chr3	131624148	131624148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcatcttgaggatgacaCaggggtctggtttggaaagg	15	6	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:131624148C>T	uc003eok.2	-	2	575	c.140G>A	c.(139-141)TGT>TAT	p.C47Y	CPNE4_uc011blq.1_Missense_Mutation_p.C65Y|CPNE4_uc003eol.2_Missense_Mutation_p.C65Y|CPNE4_uc003eom.2_Missense_Mutation_p.C47Y	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	47	C2 1.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GAGGATGACACAGGGGTCTGG	0.493													T	131624148	C	T	131624148	3	4	178	1	0	0	0	0	1	0	0	0	3814	478	17	4	1593	4	CPNE4	3	131624148	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1176723	131624148	66398282	184	95738											
EPHB1	2047	broad.mit.edu	37	chr3	134851733	134851733	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgacaatgtggagtttgTgcccaggcagctgggcctga	15	9	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:134851733T>G	uc003eqt.2	+	5	1359	c.1139T>G	c.(1138-1140)GTG>GGG	p.V380G	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	380	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GTGGAGTTTGTGCCCAGGCAG	0.612													G	134851733	T	G	134851733	3	3	178	1	0	0	0	0	1	0	0	0	5174	1696	59	5	1157	5	EPHB1	3	134851733	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	3227585	134851733	63170697	185	95739											
SAMD7	344658	broad.mit.edu	37	chr3	169642908	169642908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaatgaaatgattcaaCggcatcatactgccaggtaa	10	7	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:169642908C>T	uc003fgd.2	+	5	541	c.274C>T	c.(274-276)CGG>TGG	p.R92W	SAMD7_uc003fge.2_Missense_Mutation_p.R92W|SAMD7_uc011bpo.1_Translation_Start_Site	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	92										skin(1)	1	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)			AATGATTCAACGGCATCATAC	0.358													T	169642908	C	T	169642908	3	4	178	1	0	0	0	0	1	0	0	0	13824	527	19	1	284	1	SAMD7	3	169642908	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	34791175	169642908	28379522	186	95740											
NAALADL2	254827	broad.mit.edu	37	chr3	175189442	175189442	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcaggatttcaagaaggttCttcagaaaaatgttgtggct	10	5	4	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:175189442C>A	uc003fit.2	+	9	1636	c.1549C>A	c.(1549-1551)CTT>ATT	p.L517I	NAALADL2_uc003fiu.1_Missense_Mutation_p.L510I|NAALADL2_uc010hwy.1_Missense_Mutation_p.L291I|NAALADL2_uc010hwz.1_Missense_Mutation_p.L111I	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	517	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		CAAGAAGGTTCTTCAGAAAAA	0.343													A	175189442	C	A	175189442	3	1	178	1	0	0	0	0	1	0	0	0	10130	913	32	5	1583	5	NAALADL2	3	175189442	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5546534	175189442	22832988	187	95741											
CCDC39	339829	broad.mit.edu	37	chr3	180365973	180365973	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgtacataatttcttGctgcttcaaggtttcaaaat	7	8	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:180365973G>C	uc010hxe.2	-	10	1457	c.1342C>G	c.(1342-1344)CAA>GAA	p.Q448E	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	448	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATAATTTCTTGCTGCTTCAAG	0.338													C	180365973	G	C	180365973	3	2	178	1	0	0	0	0	1	0	0	0	2811	1328	46	5	1527	5	CCDC39	3	180365973	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5176531	180365973	17656457	188	95742											
DNAJB11	51726	broad.mit.edu	37	chr3	186301734	186301734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcactggttggctttgAgatggatattactcacttgg	12	6	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:186301734A>G	uc003fqi.2	+	8	1041	c.821A>G	c.(820-822)GAG>GGG	p.E274G		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	274					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GTTGGCTTTGAGATGGATATT	0.373													G	186301734	A	G	186301734	3	3	178	1	0	0	0	0	1	0	0	0	4616	304	11	3	851	3	DNAJB11	3	186301734	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	5935761	186301734	11720696	189	95743											
KNG1	3827	broad.mit.edu	37	chr3	186449380	186449380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacatcgatattcagctacGaattgcttccttctcacaga	5	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:186449380G>A	uc011bsa.1	+	6	931	c.719G>A	c.(718-720)CGA>CAA	p.R240Q	KNG1_uc003fqr.2_Missense_Mutation_p.R240Q	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	240	Cystatin 2.				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			skin(1)	1	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)	ATTCAGCTACGAATTGCTTCC	0.388													A	186449380	G	A	186449380	3	1	178	1	0	0	0	0	1	0	0	0	8427	1058	37	1	741	1	KNG1	3	186449380	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	147646	186449380	11573050	190	95744											
ATP13A5	344905	broad.mit.edu	37	chr3	193028483	193028483	+	Frame_Shift_Del	DEL	A	A	-													tgcccaggagacattcttgcAaaaactgttccattcaccag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:193028483delA	uc011bsq.1	-	21	2469	c.2469delT	c.(2467-2469)TTTfs	p.F823fs		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	823					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		ACATTCTTGCAAAAACTGTTC	0.338													-	193028483	A	-	193028483	7	5	178	1	0	1	0	1	0	0	0	0	1127	127	5	0	1225	0	ATP13A5	3	193028483	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	6579103	193028483	4993947	191	95745											
RNF168	165918	broad.mit.edu	37	chr3	196199236	196199237	+	Frame_Shift_Ins	INS	-	-	T													cttcaaaggaagattcttggINSttttttcttttggaaatctc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:196199236_196199237insT	uc003fwq.2	-	6	1707_1708	c.1169_1170insA	c.(1168-1170)AACfs	p.N390fs	RNF168_uc010iah.2_Frame_Shift_Ins_p.N223fs|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	390					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)		AAGATTCTTGGTTTTTTCTTTT	0.421													T	196199237	-	T	196199236	7	5	178	1	0	1	1	0	0	0	0	0	13459	1252	44	0	549	0	RNF168	3	196199236	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	3170753	196199236	1823194	192	95746	478	2									
RNF168	165918	broad.mit.edu	37	chr3	196199237	196199238	+	Frame_Shift_Ins	INS	-	-	T													ttcaaaggaagattcttggtINStttttcttttggaaatctcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:196199236_196199237G>GT	uc003fwq.3	-	5	1764_1765	c.1169_1170C>AC	c.(1168-1170)aacfs	p.N390fs	RNF168_uc010iah.3_Frame_Shift_Ins_p.N223fs	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	390					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)		AAGATTCTTGGTTTTTTCTTTT	0.421													T	196199238	-	T	196199237	7	5	178	1	0	1	1	0	0	0	0	0	13459	1725	60	0	550	0	RNF168	3	196199237	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	1	196199237	1823193	193	95747	478	2									
IQCG	84223	broad.mit.edu	37	chr3	197670673	197670673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgctctgtctcccttcGtactgaacgggcatgatgta	10	11	2	3	rs143691583	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr3:197670673G>A	uc003fyo.2	-	3	404	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y	IQCG_uc003fyp.2_Silent_p.Y86Y|IQCG_uc003fyq.3_Silent_p.Y86Y	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	86											0	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)		GTCTCCCTTCGTACTGAACGG	0.453													A	197670673	G	A	197670673	2	1	178	1	0	0	0	0	0	0	0	1	7810	1140	40	1		1	IQCG	3	197670673	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1471436	197670673	351757	194	95748											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661594	+	Frame_Shift_Ins	INS	-	-	C													tcacgtgtggtatcatggacINSccccccgtcactgatgacat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:2661592_2661593A>AC	uc010ick.3	+	8	1284_1285	c.1283_1284A>AC	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										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						GGTATCATGGACCCCCCCGTCA	0.525													C	2661594	-	C	2661593	7	5	178	1	0	1	1	0	0	0	0	0	5524	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08		2661593	188492683	195	95749											
JAKMIP1	152789	broad.mit.edu	37	chr4	6086667	6086667	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttagttgaaatcgcctcAcatctcgctcgtccatatgt	6	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:6086667A>G	uc003giu.3	-	5	1136	c.860T>C	c.(859-861)GTG>GCG	p.V287A	JAKMIP1_uc010idb.1_Missense_Mutation_p.V287A|JAKMIP1_uc010idc.1_Missense_Mutation_p.V122A|JAKMIP1_uc010idd.1_Missense_Mutation_p.V287A|JAKMIP1_uc011bwc.1_Missense_Mutation_p.V122A|JAKMIP1_uc003giv.3_Missense_Mutation_p.V287A|JAKMIP1_uc010ide.2_Missense_Mutation_p.V287A	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	287	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AAATCGCCTCACATCTCGCTC	0.363													G	6086667	A	G	6086667	3	3	178	1	0	0	0	0	1	0	0	0	7940	159	6	3	1778	3	JAKMIP1	4	6086667	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3425074	6086667	185067609	196	95750											
SHISA3	152573	broad.mit.edu	37	chr4	42403032	42403032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttttgccttttagagcCtgtctacgtcccctttctca	6	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:42403032C>A	uc003gwp.2	+	2	499	c.281C>A	c.(280-282)CCT>CAT	p.P94H		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	94	Extracellular (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CTTTTAGAGCCTGTCTACGTC	0.493													A	42403032	C	A	42403032	3	1	178	1	0	0	0	0	1	0	0	0	14281	681	24	5	287	5	SHISA3	4	42403032	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	36316365	42403032	148751244	197	95751											
GABRG1	2565	broad.mit.edu	37	chr4	46099285	46099285	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatttgtgtgatatcTccttcatgaatttttggggc	9	6	3	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:46099285T>G	uc003gxb.2	-	2	338	c.186A>C	c.(184-186)GGA>GGC	p.G62G		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	62	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GTGTGATATCTCCTTCATGAA	0.368													G	46099285	T	G	46099285	2	3	178	1	0	0	0	0	0	0	0	1	6171	1538	54	5		5	GABRG1	4	46099285	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	3696253	46099285	145054991	198	95752											
LRRC66	339977	broad.mit.edu	37	chr4	52861644	52861644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattagttcacggttaccgGcatgtggatgtctctggaga	12	8	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:52861644G>A	uc003gzi.2	-	4	1557	c.1544C>T	c.(1543-1545)GCC>GTC	p.A515V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	515						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						ACGGTTACCGGCATGTGGATG	0.537													A	52861644	G	A	52861644	3	1	178	1	0	0	0	0	1	0	0	0	9018	1203	42	2	1102	2	LRRC66	4	52861644	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	6762359	52861644	138292632	199	95753											
RASL11B	65997	broad.mit.edu	37	chr4	53728803	53728803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggtgggcgccagcggCgtgggcaagaccggtgagtc	20	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:53728803C>T	uc003gzt.2	+	1	309	c.129C>T	c.(127-129)GGC>GGT	p.G43G		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	43	Small GTPase-like.|GTP (By similarity).				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			GCGCCAGCGGCGTGGGCAAGA	0.726													T	53728803	C	T	53728803	2	4	178	1	0	0	0	0	0	0	0	1	13082	755	27	1		1	RASL11B	4	53728803	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	867159	53728803	137425473	200	95754											
SRP72	6731	broad.mit.edu	37	chr4	57366808	57366808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaagaagggtaaaaagaaGgatcagattggaaaagggac	14	2	1	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:57366808G>T	uc003hbv.2	+	18	1825	c.1785G>T	c.(1783-1785)AAG>AAT	p.K595N	SRP72_uc010ihe.2_Missense_Mutation_p.K534N|SRP72_uc003hbx.2_RNA	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	595					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			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					GTAAAAAGAAGGATCAGATTG	0.448													T	57366808	G	T	57366808	3	4	178	1	0	0	0	0	1	0	0	0	15156	991	35	5	1855	5	SRP72	4	57366808	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3638005	57366808	133787468	201	95755											
UBA6	55236	broad.mit.edu	37	chr4	68547904	68547904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggccatcttctgcattgcTgtgtctccaagaacgtacct	8	12	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:68547904T>C	uc003hdg.3	-	3	214	c.162A>G	c.(160-162)ACA>ACG	p.T54T	UBA6_uc003hdi.2_Silent_p.T54T|UBA6_uc003hdj.2_Silent_p.T54T	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	54					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						TCTGCATTGCTGTGTCTCCAA	0.338													C	68547904	T	C	68547904	2	2	178	1	0	0	0	0	0	0	0	1	16829	1567	55	3		3	UBA6	4	68547904	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	11181096	68547904	122606372	202	95756											
RUFY3	22902	broad.mit.edu	37	chr4	71660543	71660546	+	Frame_Shift_Del	DEL	AAAG	AAAG	-													agttagaactaaaacaggaaAaagaaagaagattacaaaac					rs148897085		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:71660543_71660546delAAAG	uc003hfr.2	+	14	2084_2087	c.1489_1492delAAAG	c.(1489-1494)AAAGAAfs	p.K497fs	RUFY3_uc011cay.1_Frame_Shift_Del_p.K433fs	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 1	332_Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			AAAACAGGAAAAAGAAAGAAGATT	0.373													-	71660546	AAAG	-	71660543	7	5	178	1	0	1	0	1	0	0	0	0	13740	15	1	0	1986	0	RUFY3	4	71660543	Frame_Shift_Del	DEL	AAAG	TCGA-CG-4465-01A-01D-1158-08	3112639	71660543	119493733	203	95757											
HNRPDL	9987	broad.mit.edu	37	chr4	83349475	83349475	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcacaaatccaaatcCtcttgatctcccagtgactg	6	12	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:83349475C>A	uc003hmr.2	-	2	1103	c.568G>T	c.(568-570)GGA>TGA	p.G190*	ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Nonsense_Mutation_p.G190*	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	190	RRM 1.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				AATCCAAATCCTCTTGATCTC	0.398													A	83349475	C	A	83349475	4	1	178	1	0	0	0	0	0	1	0	0	7276	690	24	5	718	5	HNRPDL	4	83349475	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	11688932	83349475	107804801	204	95758											
PLAC8	51316	broad.mit.edu	37	chr4	84026050	84026050	+	Splice_Site	DEL	G	G	-													ggtatggtaagagactcacaGggatgccatatcgggtcctg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:84026049_84026049AG>A	uc003hoe.3	-	3	404	c.243_splice	c.e3+1	p.P81_splice	PLAC8_uc011cco.2_Splice_Site_p.P81_splice|PLAC8_uc010ijy.3_Splice_Site|PLAC8_uc010ijz.3_Intron|PLAC8_uc003hod.2_Splice_Site_p.P81_splice	NM_001130716	NP_057703	Q9NZF1	PLAC8_HUMAN	Homo sapiens placenta-specific 8 (PLAC8), transcript variant 1, mRNA.	81										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				AGAGACTCACAGGGATGCCAT	0.418													-	84026050	G	-	84026050	8	5	178	1	0	1	0	1	0	0	1	0	12015	1014	35	0	113	0	PLAC8	4	84026050	Splice_Site	DEL	G	TCGA-CG-4465-01A-01D-1158-08	676575	84026050	107128226	205	95759											
BMPR1B	658	broad.mit.edu	37	chr4	96025646	96025647	+	Frame_Shift_Ins	INS	-	-	C													ggtgagagtacagcccccacINScccccgtccaaaggtcttgc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:96025645_96025646A>AC	uc003htm.4	+	3	344_345	c.70_71A>AC	c.(70-72)accfs	p.T24fs	BMPR1B_uc010ilb.3_Frame_Shift_Ins_p.T24fs|BMPR1B_uc003htn.4_Frame_Shift_Ins_p.T24fs	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	24					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|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|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)		TACAGCCCCCACCCCCCGTCCA	0.431													C	96025647	-	C	96025646	7	5	178	1	0	1	1	0	0	0	0	0	1470	507	18	0	73	0	BMPR1B	4	96025646	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	11999596	96025646	95128630	206	95760											
UNC5C	8633	broad.mit.edu	37	chr4	96163632	96163632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgcaagacgaggccgtcGcagtccttgcctccattctt	10	13	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:96163632G>A	uc003htp.1	-	7	1210	c.1056C>T	c.(1054-1056)TGC>TGT	p.C352C	UNC5C_uc010ilc.1_Silent_p.C352C|UNC5C_uc003htq.2_Silent_p.C352C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	352	Extracellular (Potential).|TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGAGGCCGTCGCAGTCCTTGC	0.562													A	96163632	G	A	96163632	2	1	178	1	0	0	0	0	0	0	0	1	16990	1079	38	1		1	UNC5C	4	96163632	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	137986	96163632	94990644	207	95761											
C4orf17	84103	broad.mit.edu	37	chr4	100451003	100451003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaaagaccaccatcacCtccaaaggcatgctctactc	6	16	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:100451003C>A	uc003huw.2	+	5	757	c.434C>A	c.(433-435)CCT>CAT	p.P145H	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	145											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CCACCATCACCTCCAAAGGCA	0.368													A	100451003	C	A	100451003	3	1	178	1	0	0	0	0	1	0	0	0	2252	681	24	5	448	5	C4orf17	4	100451003	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4287371	100451003	90703273	208	95762											
PPP3CA	5530	broad.mit.edu	37	chr4	101947132	101947132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagggcatggcatctctgcGaggcggcatcctctcattaa	12	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:101947132G>A	uc011cen.1	-	14	2131	c.1456C>T	c.(1456-1458)CGC>TGC	p.R486C	PPP3CA_uc003hvu.2_Missense_Mutation_p.R476C|PPP3CA_uc010ilj.2_Missense_Mutation_p.R434C|PPP3CA_uc003hvt.2_Missense_Mutation_p.R463C|PPP3CA_uc003hvs.2_Missense_Mutation_p.R419C|PPP3CA_uc010ilk.2_Missense_Mutation_p.R254C	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	486	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCATCTCTGCGAGGCGGCATC	0.483													A	101947132	G	A	101947132	3	1	178	1	0	0	0	0	1	0	0	0	12397	1058	37	1	113	1	PPP3CA	4	101947132	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1496129	101947132	89207144	209	95763											
SEC24B	10427	broad.mit.edu	37	chr4	110437688	110437688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttattcctttcagctgcGtcctcctcaacctgcagttt	5	13	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:110437688G>A	uc003hzk.2	+	11	2073	c.2018G>A	c.(2017-2019)CGT>CAT	p.R673H	SEC24B_uc003hzl.2_Missense_Mutation_p.R638H|SEC24B_uc011cfp.1_Missense_Mutation_p.R703H|SEC24B_uc011cfq.1_Missense_Mutation_p.R672H|SEC24B_uc011cfr.1_Missense_Mutation_p.R637H	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	673					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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTCAGCTGCGTCCTCCTCAA	0.318													A	110437688	G	A	110437688	3	1	178	1	0	0	0	0	1	0	0	0	13995	1145	40	1	2060	1	SEC24B	4	110437688	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8490556	110437688	80716588	210	95764											
ANK2	287	broad.mit.edu	37	chr4	114278230	114278230	+	Frame_Shift_Del	DEL	A	A	-													agctctccaaggcactcatgAaaaagacacagagggagaag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:114278229_114278229GA>G	uc003ibe.4	+	37	8555	c.8455_8455GA>G	c.(8455-8457)gaafs	p.E2819fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.E2834fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2786					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)		AGGCACTCATGAAAAAGACAC	0.453													-	114278230	A	-	114278230	7	5	178	1	0	1	0	1	0	0	0	0	621	246	9	0	8671	0	ANK2	4	114278230	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	3840542	114278230	76876046	211	95765											
ANKRD50	57182	broad.mit.edu	37	chr4	125591592	125591592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagatataaagtgtaggcCgaccatcagcatctttgcag	9	10	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:125591592C>T	uc003ifg.3	-	3	3106	c.2840G>A	c.(2839-2841)CGG>CAG	p.R947Q	ANKRD50_uc011cgo.1_Missense_Mutation_p.R768Q|ANKRD50_uc010inw.2_Missense_Mutation_p.R947Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	947	ANK 15.									central_nervous_system(1)	1						AAGTGTAGGCCGACCATCAGC	0.428													T	125591592	C	T	125591592	3	4	178	1	0	0	0	0	1	0	0	0	677	652	23	1	1453	1	ANKRD50	4	125591592	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	11313362	125591592	65562684	212	95766											
FAT4	79633	broad.mit.edu	37	chr4	126328090	126328090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgatgatagttttcGcatcgacccagaatccggag	12	9	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:126328090G>A	uc003ifj.3	+	3	5363	c.5363G>A	c.(5362-5364)CGC>CAC	p.R1788H	FAT4_uc011cgp.1_Missense_Mutation_p.R86H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1788	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GATAGTTTTCGCATCGACCCA	0.468													A	126328090	G	A	126328090	3	1	178	1	0	0	0	0	1	0	0	0	5692	1087	38	1	5373	1	FAT4	4	126328090	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	736498	126328090	64826186	213	95767											
POU4F2	5458	broad.mit.edu	37	chr4	147561490	147561490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgagcgacgtggacgccGacccgcgggacctggaggca	17	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:147561490G>A	uc003ikv.2	+	2	1008	c.760G>A	c.(760-762)GAC>AAC	p.D254N		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	254	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			breast(1)	1	all_hematologic(180;0.151)					CGTGGACGCCGACCCGCGGGA	0.677													A	147561490	G	A	147561490	3	1	178	1	0	0	0	0	1	0	0	0	12279	1058	37	1	766	1	POU4F2	4	147561490	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	21233400	147561490	43592786	214	95768											
LRBA	987	broad.mit.edu	37	chr4	151774054	151774054	+	Frame_Shift_Del	DEL	A	A	-													acttttccttgctgttccctAaatatattggcaaggttttc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:151774053_151774053TA>T	uc010ipj.3	-	22	3053	c.2809_2809TA>A	c.(2809-2811)aggfs	p.R937fs	LRBA_uc003ilu.4_Frame_Shift_Del_p.R937fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	937						Golgi apparatus|endoplasmic reticulum|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)					TGCTGTTCCCTAAATATATTG	0.353													-	151774054	A	-	151774054	7	5	178	1	0	1	0	1	0	0	0	0	8931	359	13	0	5927	0	LRBA	4	151774054	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	4212564	151774054	39380222	215	95769											
GLRB	2743	broad.mit.edu	37	chr4	158065036	158065036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggggtctacgccccaActctgctcattgttgttctc	10	12	4	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:158065036A>G	uc003ipj.2	+	8	1031	c.829A>G	c.(829-831)ACT>GCT	p.T277A		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	277	Helical; (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTACGCCCCAACTCTGCTCAT	0.522													G	158065036	A	G	158065036	3	3	178	1	0	0	0	0	1	0	0	0	6458	43	2	3	855	3	GLRB	4	158065036	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	6290982	158065036	33089240	216	95770											
MFAP3L	9848	broad.mit.edu	37	chr4	170912625	170912625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagtaccttatctggTacctcaacaggtgttggctc	12	11	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:170912625T>C	uc003isp.3	-	3	1312	c.1134A>G	c.(1132-1134)GTA>GTG	p.V378V	MFAP3L_uc003isn.3_Silent_p.V275V	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	378	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		CCTTATCTGGTACCTCAACAG	0.502													C	170912625	T	C	170912625	2	2	178	1	0	0	0	0	0	0	0	1	9516	1625	57	3		3	MFAP3L	4	170912625	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	12847589	170912625	20241651	217	95771											
VEGFC	7424	broad.mit.edu	37	chr4	177608669	177608669	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcatggaatccatctgTtgagtctagacaaatagtca	9	7	4	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:177608669T>G	uc003ius.1	-	6	1247	c.817A>C	c.(817-819)ACA>CCA	p.T273P		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	273					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			lung(5)	5		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)		AATCCATCTGTTGAGTCTAGA	0.458													G	177608669	T	G	177608669	3	3	178	1	0	0	0	0	1	0	0	0	17149	1725	60	5	453	5	VEGFC	4	177608669	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	6696044	177608669	13545607	218	95772											
ODZ3	55714	broad.mit.edu	37	chr4	183673077	183673077	+	Frame_Shift_Del	DEL	A	A	-													cgggggcaaaagacttgactAaaaatgcagaagtcgtcgca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:183673077delA	uc003ivd.1	+	19	3791	c.3754delA	c.(3754-3756)AAAfs	p.K1252fs	ODZ3_uc003ive.1_Frame_Shift_Del_p.K665fs	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1252	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGACTTGACTAAAAATGCAGA	0.537													-	183673077	A	-	183673077	7	5	178	1	0	1	0	1	0	0	0	0	10836	363	13	0	3828	0	ODZ3	4	183673077	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	6064408	183673077	7481199	219	95773											
SORBS2	8470	broad.mit.edu	37	chr4	186545527	186545527	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaactaatggctcttggTgagtcccgagggacatccaa	11	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:186545527T>C	uc003iyl.2	-	13	1902	c.1044A>G	c.(1042-1044)TCA>TCG	p.S348S	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.S448S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.S252S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.S462S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	348						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		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)		TGGCTCTTGGTGAGTCCCGAG	0.517													C	186545527	T	C	186545527	2	2	178	1	0	0	0	0	0	0	0	1	14928	1683	59	3		3	SORBS2	4	186545527	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2872450	186545527	4608749	220	95774											
TRIML1	339976	broad.mit.edu	37	chr4	189060625	189060625	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataggaacaggtcacccgcGtgttactcaaaactgtagga	10	10	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr4:189060625G>A	uc003izm.1	+	1	28	c.-87G>A	c.(-89--85)GCGTG>GCATG			NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1						multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		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)		GGTCACCCGCGTGTTACTCAA	0.468													A	189060625	G	A	189060625	1	1	178	1	0	0	0	0	0	0	0	0	16547	1160	40	1		1	TRIML1	4	189060625	Translation_Start_Site	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2515098	189060625	2093651	221	95775											
LPCAT1	79888	broad.mit.edu	37	chr5	1501591	1501591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacttcctccacagggccGggggctgctcgggttccttc	12	15	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:1501591G>A	uc003jcm.2	-	2	380	c.263C>T	c.(262-264)CCG>CTG	p.P88L		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	88	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CCACAGGGCCGGGGGCTGCTC	0.672													A	1501591	G	A	1501591	3	1	178	1	0	0	0	0	1	0	0	0	8910	1116	39	1	1393	1	LPCAT1	5	1501591	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08		1501591	179413669	222	95776											
KIAA0947	23379	broad.mit.edu	37	chr5	5436579	5436579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttgaaacaaaaaattAtcaatacagagtaagtatat	4	5	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:5436579A>G	uc003jdm.3	+	2	355	c.133A>G	c.(133-135)ATC>GTC	p.I45V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	45	Potential.									ovary(1)|central_nervous_system(1)	2						ACAAAAAATTATCAATACAGA	0.348													G	5436579	A	G	5436579	3	3	178	1	0	0	0	0	1	0	0	0	8202	449	16	3	139	3	KIAA0947	5	5436579	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3934988	5436579	175478681	223	95777											
ROPN1L	83853	broad.mit.edu	37	chr5	10442330	10442330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagatccacattcccccGgagctgccggacatcctgaa	9	16	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:10442330G>A	uc003jex.3	+	1	322	c.51G>A	c.(49-51)CCG>CCA	p.P17P		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	17	RIIa.				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						ACATTCCCCCGGAGCTGCCGG	0.677													A	10442330	G	A	10442330	2	1	178	1	0	0	0	0	0	0	0	1	13525	1103	39	1		1	ROPN1L	5	10442330	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5005751	10442330	170472930	224	95778											
MYO10	4651	broad.mit.edu	37	chr5	16694521	16694521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccttgagcttctcctcGctgtcgttttcaaagtacat	8	12	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:16694521G>A	uc003jft.3	-	27	4227	c.3759C>T	c.(3757-3759)AGC>AGT	p.S1253S	MYO10_uc011cnc.1_Silent_p.S132S|MYO10_uc011cnd.1_Silent_p.S610S|MYO10_uc011cne.1_Silent_p.S610S|MYO10_uc010itx.2_Silent_p.S876S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1253	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GCTTCTCCTCGCTGTCGTTTT	0.547													A	16694521	G	A	16694521	2	1	178	1	0	0	0	0	0	0	0	1	10062	1078	38	1		1	MYO10	5	16694521	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	6252191	16694521	164220739	225	95779											
IL7R	3575	broad.mit.edu	37	chr5	35867541	35867542	+	Frame_Shift_Ins	INS	-	-	A													agaaaagagtctaacctgcaINSaaaaaatagacctaaccact							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:35867540_35867541C>CA	uc003jjs.3	+	2	443_444	c.354_355C>CA	c.(352-357)tgcaaafs	p.C118fs	IL7R_uc011coo.2_Frame_Shift_Ins_p.C118fs|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	118					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)			GTCTAACCTGCAAAAAAATAGA	0.356			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						A	35867542	-	A	35867541	7	5	178	1	0	1	1	0	0	0	0	0	7705	131	5	0	365	0	IL7R	5	35867541	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	19173020	35867541	145047719	226	95780											
RICTOR	253260	broad.mit.edu	37	chr5	38945599	38945599	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtgatcacttacctgaatGactacatattgcactcagtt	6	10	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:38945599G>A	uc003jlp.2	-	34	4651	c.4627C>T	c.(4627-4629)CAT>TAT	p.H1543Y	RICTOR_uc003jlo.2_Missense_Mutation_p.H1567Y|RICTOR_uc010ivf.2_Missense_Mutation_p.H1220Y	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1543					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			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					TTACCTGAATGACTACATATT	0.378													A	38945599	G	A	38945599	3	1	178	1	0	0	0	0	1	0	0	0	13358	1290	45	4	519	4	RICTOR	5	38945599	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3078058	38945599	141969661	227	95781											
ITGA2	3673	broad.mit.edu	37	chr5	52351982	52351982	+	Splice_Site	DEL	A	A	-													aaattttcagcattgaaggtAaaaaaaataacctcctttca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:52351981_52351981TA>T	uc003joy.3	+	9	1239	c.1096_splice	c.e9+2	p.G366_splice	ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.G290_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	366					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)				GCATTGAAGGTAAAAAAAATA	0.294													-	52351982	A	-	52351982	8	5	178	1	0	1	0	1	0	0	1	0	7875	377	13	0		0	ITGA2	5	52351982	Splice_Site	DEL	A	TCGA-CG-4465-01A-01D-1158-08	13406383	52351982	128563278	228	95782											
MIER3	166968	broad.mit.edu	37	chr5	56233480	56233481	+	Frame_Shift_Del	DEL	GA	GA	-													cagatcatccgcagaagactGagtttcctcgtcatcacctg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:56233480_56233481delGA	uc003jrd.1	-	5	385_386	c.360_361delTC	c.(358-363)ACTCAGfs	p.T120fs	MIER3_uc003jqz.1_Frame_Shift_Del_p.T57fs|MIER3_uc003jra.1_Frame_Shift_Del_p.T120fs|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jrc.1_Frame_Shift_Del_p.T125fs	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	120_121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		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)		GCAGAAGACTGAGTTTCCTCGT	0.416													-	56233481	GA	-	56233480	7	5	178	1	0	1	0	1	0	0	0	0	9582	1299	45	0	1324	0	MIER3	5	56233480	Frame_Shift_Del	DEL	GA	TCGA-CG-4465-01A-01D-1158-08	3881498	56233480	124681780	229	95783											
NLN	57486	broad.mit.edu	37	chr5	65081624	65081624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccataattttgcagcAgctactcccactgcgaacca	5	14	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:65081624A>G	uc003juf.2	+	7	961	c.845A>G	c.(844-846)CAG>CGG	p.Q282R	NLN_uc003jue.2_Missense_Mutation_p.Q282R|NLN_uc003jug.2_Missense_Mutation_p.Q111R|NLN_uc010iww.2_5'UTR	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	282					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		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)		ATTTTGCAGCAGCTACTCCCA	0.403													G	65081624	A	G	65081624	3	3	178	1	0	0	0	0	1	0	0	0	10467	188	7	3	871	3	NLN	5	65081624	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	8848144	65081624	115833636	230	95784											
MAST4	375449	broad.mit.edu	37	chr5	66084576	66084576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaacctcgtgcgcatgcGcagccaggccctgggccagt	13	16	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:66084576G>A	uc003jur.3	+	3	904	c.596G>A	c.(595-597)CGC>CAC	p.R199H	MAST4_uc010iwz.2_Missense_Mutation_p.R199H	NM_198828	NP_942123	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	199						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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)		GTGCGCATGCGCAGCCAGGCC	0.672													A	66084576	G	A	66084576	3	1	178	1	0	0	0	0	1	0	0	0	9327	1087	38	1	606	1	MAST4	5	66084576	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1002952	66084576	114830684	231	95785											
MAP1B	4131	broad.mit.edu	37	chr5	71411594	71411594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actcaaactttttgtatctcGacactctgcaagattctctc	4	12	4	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:71411594G>T	uc003kbw.3	+	2	495	c.254G>T	c.(253-255)CGA>CTA	p.R85L	MAP1B_uc010iyw.1_Missense_Mutation_p.R85L|MAP1B_uc010iyx.1_5'UTR	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	85						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		TTTGTATCTCGACACTCTGCA	0.468													T	71411594	G	T	71411594	3	4	178	1	0	0	0	0	1	0	0	0	9228	1058	37	5	260	5	MAP1B	5	71411594	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5327018	71411594	109503666	232	95786											
ZNF366	167465	broad.mit.edu	37	chr5	71756154	71756154	+	Frame_Shift_Del	DEL	G	G	-													tcggagcagttgtactggatGgggccccggtgcgtggtgag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:71756153_71756153TG>T	uc003kce.1	-	1	1357	c.1171_1171CA>A	c.(1171-1173)atcfs	p.I391fs		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	391					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)		TTGTACTGGATGGGGCCCCGG	0.612													-	71756154	G	-	71756154	7	5	178	1	0	1	0	1	0	0	0	0	17867	1335	47	0	1080	0	ZNF366	5	71756154	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	344560	71756154	109159106	233	95787											
TMEM174	134288	broad.mit.edu	37	chr5	72469122	72469122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtcaatgtgttctccGtcactccttacacacccagc	5	17	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:72469122G>A	uc010izc.2	+	1	100	c.52G>A	c.(52-54)GTC>ATC	p.V18I		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	transmembrane protein 174	18						integral to membrane				ovary(1)	1		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGTGTTCTCCGTCACTCCTTA	0.582													A	72469122	G	A	72469122	3	1	178	1	0	0	0	0	1	0	0	0	16087	1145	40	1	54	1	TMEM174	5	72469122	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	712968	72469122	108446138	234	95788											
VCAN	1462	broad.mit.edu	37	chr5	82789716	82789716	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgttctccccaggaaacTtacgatgtgtattgttatgt	8	9	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:82789716T>G	uc003kii.3	+	5	1070	c.714T>G	c.(712-714)ACT>ACG	p.T238T	VCAN_uc003kij.3_Silent_p.T238T|VCAN_uc010jau.2_Silent_p.T238T|VCAN_uc003kik.3_Silent_p.T238T|VCAN_uc003kih.3_Silent_p.T238T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	238	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CCCAGGAAACTTACGATGTGT	0.448													G	82789716	T	G	82789716	2	3	178	1	0	0	0	0	0	0	0	1	17135	1596	56	5		5	VCAN	5	82789716	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	10320594	82789716	98125544	235	95789											
VCAN	1462	broad.mit.edu	37	chr5	82816658	82816658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggataaagacatcccaAgtttcactgaagatggagca	10	7	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:82816658A>C	uc003kii.3	+	7	2889	c.2533A>C	c.(2533-2535)AGT>CGT	p.S845R	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S845R|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	845	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		AGACATCCCAAGTTTCACTGA	0.428													C	82816658	A	C	82816658	3	2	178	1	0	0	0	0	1	0	0	0	17135	72	3	5	2555	5	VCAN	5	82816658	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	26942	82816658	98098602	236	95790											
EDIL3	10085	broad.mit.edu	37	chr5	83356138	83356138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaaccattgtgactggTcattgtggccagaggtccag	12	10	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:83356138T>C	uc003kio.1	-	9	1537	c.1118A>G	c.(1117-1119)GAC>GGC	p.D373G	EDIL3_uc003kip.1_Missense_Mutation_p.D363G|EDIL3_uc011ctt.1_Missense_Mutation_p.D150G	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	373	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTGTGACTGGTCATTGTGGCC	0.453													C	83356138	T	C	83356138	3	2	178	1	0	0	0	0	1	0	0	0	4915	1667	58	3	336	3	EDIL3	5	83356138	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	539480	83356138	97559122	237	95791											
EDIL3	10085	broad.mit.edu	37	chr5	83360536	83360536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccgacagttcacagccaAgaagttccattcgcaaagtg	8	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:83360536A>G	uc003kio.1	-	8	1354	c.935T>C	c.(934-936)CTT>CCT	p.L312P	EDIL3_uc003kip.1_Missense_Mutation_p.L302P|EDIL3_uc011ctt.1_Missense_Mutation_p.L89P	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	312	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTCACAGCCAAGAAGTTCCAT	0.373													G	83360536	A	G	83360536	3	3	178	1	0	0	0	0	1	0	0	0	4915	72	3	3	523	3	EDIL3	5	83360536	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	4398	83360536	97554724	238	95792											
GPR98	84059	broad.mit.edu	37	chr5	89938835	89938835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatagtgatcaccttgctaGcaagattggatgggatacca	11	7	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:89938835G>T	uc003kju.2	+	13	2626	c.2530G>T	c.(2530-2532)GCA>TCA	p.A844S	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	844	Extracellular (Potential).|Calx-beta 6.				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		CACCTTGCTAGCAAGATTGGA	0.353													T	89938835	G	T	89938835	3	4	178	1	0	0	0	0	1	0	0	0	6721	971	34	5	2580	5	GPR98	5	89938835	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	6578299	89938835	90976425	239	95793											
FAM81B	153643	broad.mit.edu	37	chr5	94731879	94731879	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctagttgaatatgttgacaAgtaagtgtgtaaattacaac	8	4	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:94731879A>T	uc003kla.1	+	3	339	c.293A>T	c.(292-294)AAG>ATG	p.K98M	FAM81B_uc010jbe.1_Translation_Start_Site	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	98										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TATGTTGACAAGTAAGTGTGT	0.299													T	94731879	A	T	94731879	3	4	178	1	0	0	0	0	1	0	0	0	5629	86	3	5	303	5	FAM81B	5	94731879	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	4793044	94731879	86183381	240	95794											
APC	324	broad.mit.edu	37	chr5	112137021	112137021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctcacatgatgctgagCggcagaatgaaggtcaagga	14	9	2	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:112137021C>T	uc010jby.2	+	8	1155	c.775C>T	c.(775-777)CGG>TGG	p.R259W	APC_uc011cvt.1_Missense_Mutation_p.R241W|APC_uc003kpz.3_Missense_Mutation_p.R259W|APC_uc003kpy.3_Missense_Mutation_p.R259W|APC_uc010jbz.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	259	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			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		TGATGCTGAGCGGCAGAATGA	0.363		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112137021	C	T	112137021	3	4	178	1	0	0	0	0	1	0	0	0	763	759	27	1	801	1	APC	5	112137021	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	17405142	112137021	68778239	241	95795											
CCDC112	153733	broad.mit.edu	37	chr5	114606950	114606952	+	In_Frame_Del	DEL	CTT	CTT	-													tttcatcagcagcatttttcCttttttctgccttttctgcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:114606949_114606951CCTT>C	uc003kqz.2	-	6	1509_1511	c.1291_1293AAGG>G	c.(1291-1293)agg>G	p.R431del	CCDC112_uc003kqy.2_In_Frame_Del_p.R348del|CCDC112_uc003kra.2_In_Frame_Del_p.R431del	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	348										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)		CAGCATTTTTCCTTTTTTCTGCC	0.325													-	114606952	CTT	-	114606950	7	5	178	1	0	1	0	1	0	0	0	0	2749	681	24	0	313	0	CCDC112	5	114606950	In_Frame_Del	DEL	CTT	TCGA-CG-4465-01A-01D-1158-08	2469929	114606950	66308310	242	95796											
PDLIM4	8572	broad.mit.edu	37	chr5	131607852	131607852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagagccacgccaaggCgcgcgtgaagccgcccgagg	16	14	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:131607852C>A	uc003kwn.2	+	7	1000	c.923C>A	c.(922-924)GCG>GAG	p.A308E	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_3'UTR|PDLIM4_uc003kwo.2_Missense_Mutation_p.A416E	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	308	LIM zinc-binding.						protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACGCCAAGGCGCGCGTGAAG	0.622													A	131607852	C	A	131607852	3	1	178	1	0	0	0	0	1	0	0	0	11682	768	27	5	949	5	PDLIM4	5	131607852	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	17000902	131607852	49307408	243	95797											
PHF15	23338	broad.mit.edu	37	chr5	133897939	133897939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagctggctgtgccggaCgtgtgccctgggtgtccagc	18	12	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:133897939C>T	uc003kzo.1	+	7	913	c.734C>T	c.(733-735)ACG>ATG	p.T245M	PHF15_uc011cxt.1_Missense_Mutation_p.T245M|PHF15_uc003kzk.2_Missense_Mutation_p.T261M|PHF15_uc003kzl.2_Missense_Mutation_p.T245M|PHF15_uc003kzm.2_Missense_Mutation_p.T245M|PHF15_uc003kzn.2_Missense_Mutation_p.T245M|PHF15_uc003kzp.2_5'Flank	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	245	PHD-type.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGCCGGACGTGTGCCCTG	0.617													T	133897939	C	T	133897939	3	4	178	1	0	0	0	0	1	0	0	0	11826	536	19	1	756	1	PHF15	5	133897939	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2290087	133897939	47017321	244	95798											
PHF15	23338	broad.mit.edu	37	chr5	133914284	133914284	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatggccatgagcgagtgGccactgaacaatgggcaccg	13	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:133914284G>A	uc003kzo.1	+	11	1829	c.1650G>A	c.(1648-1650)TGG>TGA	p.W550*	PHF15_uc011cxt.1_Nonsense_Mutation_p.W594*|PHF15_uc003kzk.2_Nonsense_Mutation_p.W610*|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Nonsense_Mutation_p.W551*|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	550					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCGAGTGGCCACTGAACA	0.607													A	133914284	G	A	133914284	4	1	178	1	0	0	0	0	0	1	0	0	11826	1212	42	2	1688	2	PHF15	5	133914284	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	16345	133914284	47000976	245	95799											
SIL1	64374	broad.mit.edu	37	chr5	138282955	138282955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagctgggggtcctgacGgtagcggtcccggcaggtgg	20	11	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:138282955G>A	uc003ldm.2	-	9	1254	c.1237C>T	c.(1237-1239)CGT>TGT	p.R413C	SIL1_uc003ldn.2_Missense_Mutation_p.R412C|SIL1_uc003ldo.2_Missense_Mutation_p.R413C|SIL1_uc003ldp.2_Missense_Mutation_p.R413C	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	413					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGGTCCTGACGGTAGCGGTCC	0.672									Marinesco-Sj_gren_syndrome				A	138282955	G	A	138282955	3	1	178	1	0	0	0	0	1	0	0	0	14321	1116	39	1	152	1	SIL1	5	138282955	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4368671	138282955	42632305	246	95800											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308103	140308103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaacagtgactataaaCttgtttgtggtagataggaa	11	4	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:140308103C>A	uc003lih.2	+	1	1802	c.1626C>A	c.(1624-1626)AAC>AAA	p.N542K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.N542K	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	542	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTATAAACTTGTTTGTGG	0.478													A	140308103	C	A	140308103	3	1	178	1	0	0	0	0	1	0	0	0	11532	564	20	5	1628	5	PCDHAC1	5	140308103	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2025148	140308103	40607157	247	95801											
PCDHB7	56129	broad.mit.edu	37	chr5	140554245	140554245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccagctgctcaaggccaCggagcccgggctattcggcg	14	14	1	0	rs142959046		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:140554245C>T	uc003lit.2	+	1	2003	c.1829C>T	c.(1828-1830)ACG>ATG	p.T610M		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	610	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAAGGCCACGGAGCCCGGG	0.711													T	140554245	C	T	140554245	3	4	178	1	0	0	0	0	1	0	0	0	11547	536	19	1	1831	1	PCDHB7	5	140554245	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	246142	140554245	40361015	248	95802											
PCDHB16	57717	broad.mit.edu	37	chr5	140562469	140562469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagtgttaatggaaaAccctttagaaatatttcagg	7	6	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:140562469A>C	uc003liv.2	+	1	1490	c.335A>C	c.(334-336)AAC>ACC	p.N112T	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	112	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAATGGAAAACCCTTTAGAA	0.403													C	140562469	A	C	140562469	3	2	178	1	0	0	0	0	1	0	0	0	11541	43	2	5	337	5	PCDHB16	5	140562469	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	8224	140562469	40352791	249	95803											
DPYSL3	1809	broad.mit.edu	37	chr5	146775259	146775259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcccatcgtacatgcccCttgggacggcatgcaggtct	12	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:146775259C>A	uc003lon.1	-	13	1597	c.1487G>T	c.(1486-1488)AGG>ATG	p.R496M	DPYSL3_uc003loo.2_Missense_Mutation_p.R610M	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	496					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACATGCCCCTTGGGACGGC	0.552													A	146775259	C	A	146775259	3	1	178	1	0	0	0	0	1	0	0	0	4748	681	24	5	233	5	DPYSL3	5	146775259	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6212790	146775259	34140001	250	95804											
PDGFRB	5159	broad.mit.edu	37	chr5	149501535	149501535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtccagcatgggcacaTagtccaccgactcgtccttg	9	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:149501535T>C	uc003lro.2	-	16	2721	c.2252A>G	c.(2251-2253)TAT>TGT	p.Y751C	PDGFRB_uc010jhd.2_Missense_Mutation_p.Y590C	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	751	Cytoplasmic (Potential).|Protein kinase.			Y->F: No effect on GRB10-binding.	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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	CATGGGCACATAGTCCACCGA	0.557			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								C	149501535	T	C	149501535	3	2	178	1	0	0	0	0	1	0	0	0	11662	1406	49	3	1100	3	PDGFRB	5	149501535	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2726276	149501535	31413725	251	95805											
MED7	9443	broad.mit.edu	37	chr5	156566145	156566145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgttttatactcccagGgctccttattaaaatatcta	4	10	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:156566145G>T	uc010jik.2	-	2	690	c.298C>A	c.(298-300)CCT>ACT	p.P100T	MED7_uc003lwm.3_Missense_Mutation_p.P100T	NM_001100816	NP_001094286	O43513	MED7_HUMAN	mediator complex subunit 7	100					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATACTCCCAGGGCTCCTTATT	0.358													T	156566145	G	T	156566145	3	4	178	1	0	0	0	0	1	0	0	0	9452	1232	43	5	407	5	MED7	5	156566145	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	7064610	156566145	24349115	252	95806											
GABRA6	2559	broad.mit.edu	37	chr5	161113276	161113276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcgaagttgaaggcaacTtctactcagaaaacgtcagt	8	9	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:161113276T>C	uc003lyu.2	+	2	417	c.79T>C	c.(79-81)TTC>CTC	p.F27L		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	27	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	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)	TGAAGGCAACTTCTACTCAGA	0.478										TCGA Ovarian(5;0.080)			C	161113276	T	C	161113276	3	2	178	1	0	0	0	0	1	0	0	0	6165	1609	56	3	85	3	GABRA6	5	161113276	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	4547131	161113276	19801984	253	95807											
DOCK2	1794	broad.mit.edu	37	chr5	169482374	169482374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaagaataagccagtgCctgaccagattataaagtaa	9	7	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:169482374C>T	uc003maf.2	+	42	4359	c.4279C>T	c.(4279-4281)CCT>TCT	p.P1427S	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.P919S|DOCK2_uc003mah.2_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1427	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	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)			TAAGCCAGTGCCTGACCAGAT	0.488													T	169482374	C	T	169482374	3	4	178	1	0	0	0	0	1	0	0	0	4687	739	26	2	4445	2	DOCK2	5	169482374	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	8369098	169482374	11432886	254	95808											
FBXW11	23291	broad.mit.edu	37	chr5	171299942	171299942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagacaggcaatgcccCgcttgtgcccattgagagta	12	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:171299942C>T	uc003mbm.1	-	9	1582	c.1211G>A	c.(1210-1212)CGG>CAG	p.R404Q	FBXW11_uc011dey.1_Missense_Mutation_p.R372Q|FBXW11_uc003mbl.1_Missense_Mutation_p.R391Q|FBXW11_uc003mbn.1_Missense_Mutation_p.R370Q	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	404	WD 5.				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			ovary(1)|breast(1)	2	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)			GGCAATGCCCCGCTTGTGCCC	0.463													T	171299942	C	T	171299942	3	4	178	1	0	0	0	0	1	0	0	0	5764	652	23	1	433	1	FBXW11	5	171299942	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1817568	171299942	9615318	255	95809											
ARL10	285598	broad.mit.edu	37	chr5	175795967	175795967	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccctgacctgcctgtcgtCgtggtggccaacaagcaggt	13	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:175795967C>T	uc003mec.1	+	3	608	c.543C>T	c.(541-543)GTC>GTT	p.V181V	ARL10_uc003meb.2_Silent_p.V181V	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	181							GTP binding			ovary(1)	1	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCCTGTCGTCGTGGTGGCCA	0.652													T	175795967	C	T	175795967	2	4	178	1	0	0	0	0	0	0	0	1	926	871	31	1		1	ARL10	5	175795967	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4496025	175795967	5119293	256	95810											
DDX41	51428	broad.mit.edu	37	chr5	176939616	176939616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttgccctcccggaatGcctcgatggccttagtccgt	9	16	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:176939616G>A	uc003mho.2	-	14	1451	c.1430C>T	c.(1429-1431)GCA>GTA	p.A477V	DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.A257V|DDX41_uc003mhn.2_Missense_Mutation_p.A346V|DDX41_uc003mhp.2_Missense_Mutation_p.A346V	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	477	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			CTCCCGGAATGCCTCGATGGC	0.602													A	176939616	G	A	176939616	3	1	178	1	0	0	0	0	1	0	0	0	4361	1319	46	2	454	2	DDX41	5	176939616	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1143649	176939616	3975644	257	95811											
ZNF354A	6940	broad.mit.edu	37	chr5	178152390	178152390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttacctagagaggagacGccagaaccgtctttctccac	8	14	2	3	rs113512483	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr5:178152390G>A	uc003mjj.2	-	4	441	c.243C>T	c.(241-243)GGC>GGT	p.G81G		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	81	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		GAGAGGAGACGCCAGAACCGT	0.522													A	178152390	G	A	178152390	2	1	178	1	0	0	0	0	0	0	0	1	17861	1074	38	1		1	ZNF354A	5	178152390	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1212774	178152390	2762870	258	95812											
BMP6	654	broad.mit.edu	37	chr6	7727739	7727739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcgcacccgctcaaccGcaagagccttctggcccccg	10	21	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:7727739G>A	uc003mxu.3	+	1	729	c.551G>A	c.(550-552)CGC>CAC	p.R184H		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	184					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CCGCTCAACCGCAAGAGCCTT	0.736													A	7727739	G	A	7727739	3	1	178	1	0	0	0	0	1	0	0	0	1464	1087	38	1	553	1	BMP6	6	7727739	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08		7727739	163387328	259	95813											
TMEM14B	81853	broad.mit.edu	37	chr6	10751370	10751370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcttccttctaggcagCgtgccgtccctggctgcagg	13	13	1	0	rs146042312		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:10751370C>T	uc003mzk.3	+	4	269	c.105C>T	c.(103-105)AGC>AGT	p.S35S	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jor.2_Intron|TMEM14B_uc010jos.1_Intron	NM_030969	NP_112231	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B isoform a	35	Helical; (Potential).					integral to membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				TTCTAGGCAGCGTGCCGTCCC	0.542													T	10751370	C	T	10751370	2	4	178	1	0	0	0	0	0	0	0	1	16061	767	27	1		1	TMEM14B	6	10751370	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3023631	10751370	160363697	260	95814											
NEDD9	4739	broad.mit.edu	37	chr6	11191046	11191046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagcctttagcatctggCgggttatgcagagggacatc	14	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:11191046C>T	uc003mzv.2	-	5	1223	c.1056G>A	c.(1054-1056)CCG>CCA	p.P352P	NEDD9_uc010joz.2_Silent_p.P352P|NEDD9_uc003mzw.3_Silent_p.P206P	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	352					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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TAGCATCTGGCGGGTTATGCA	0.537													T	11191046	C	T	11191046	2	4	178	1	0	0	0	0	0	0	0	1	10313	755	27	1		1	NEDD9	6	11191046	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	439676	11191046	159924021	261	95815											
ATXN1	6310	broad.mit.edu	37	chr6	16328093	16328093	+	Frame_Shift_Del	DEL	G	G	-													tggtgacggggttggcggttGgggggatcagctgtgatggg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:16328093delG	uc003nbt.2	-	8	1420	c.449delC	c.(448-450)CCAfs	p.P150fs	ATXN1_uc010jpi.2_Frame_Shift_Del_p.P150fs|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	150					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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTTGGCGGTTGGGGGGATCAG	0.632													-	16328093	G	-	16328093	7	5	178	1	0	1	0	1	0	0	0	0	1209	1348	47	0	2006	0	ATXN1	6	16328093	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	5137047	16328093	154786974	262	95816											
KIF13A	63971	broad.mit.edu	37	chr6	17788022	17788023	+	Frame_Shift_Ins	INS	-	-	T													atacctgttttattgctgacINStttttttatctgttcatcca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:17788022_17788023insT	uc003ncg.3	-	27	3450_3451	c.3345_3346insA	c.(3343-3348)AAAGTCfs	p.K1115fs	KIF13A_uc003ncf.2_Frame_Shift_Ins_p.K1102fs|KIF13A_uc003nch.3_Frame_Shift_Ins_p.K1115fs|KIF13A_uc003nci.3_Frame_Shift_Ins_p.K1102fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1115_1116	Potential.				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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATCT	0.416													T	17788023	-	T	17788022	7	5	178	1	0	1	1	0	0	0	0	0	8274	565	20	0	2148	0	KIF13A	6	17788022	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	1459929	17788022	153327045	263	95817	479	2									
KIF13A	63971	broad.mit.edu	37	chr6	17788023	17788024	+	Frame_Shift_Ins	INS	-	-	T													tacctgttttattgctgactINSttttttatctgttcatccag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:17788022_17788023C>CT	uc003ncg.4	-	26	3505_3506	c.3345_3346G>AG	c.(3343-3348)aaagtcfs	p.K1115fs	KIF13A_uc003ncf.3_Frame_Shift_Ins_p.K1102fs|KIF13A_uc003nch.4_Frame_Shift_Ins_p.K1115fs|KIF13A_uc003nci.4_Frame_Shift_Ins_p.K1102fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1115					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome 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)			TTATTGCTGACTTTTTTTATCT	0.416													T	17788024	-	T	17788023	7	5	178	1	0	1	1	0	0	0	0	0	8274	1606	56	0	2149	0	KIF13A	6	17788023	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	1	17788023	153327044	264	95818	479	2									
SLC17A3	10786	broad.mit.edu	37	chr6	25850316	25850316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagtgatgagtctaaaCtttttggttagaaggaaatc	9	6	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:25850316C>A	uc003nfi.3	-	8	959	c.849G>T	c.(847-849)AAG>AAT	p.K283N	SLC17A3_uc003nfk.3_Missense_Mutation_p.K361N|SLC17A3_uc011djz.1_3'UTR	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	283					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				0						TGAGTCTAAACTTTTTGGTTA	0.413													A	25850316	C	A	25850316	3	1	178	1	0	0	0	0	1	0	0	0	14418	564	20	5	429	5	SLC17A3	6	25850316	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	8062293	25850316	145264751	265	95819											
SLC17A3	10786	broad.mit.edu	37	chr6	25855394	25855394	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatatagaagacaaagggCcacccaagggtttcactaat	9	8	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:25855394C>T	uc003nfi.3	-	5	566	c.456G>A	c.(454-456)TGG>TGA	p.W152*	SLC17A3_uc003nfk.3_Nonsense_Mutation_p.W230*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.W230*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.W152*	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	152					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				0						AGACAAAGGGCCACCCAAGGG	0.418													T	25855394	C	T	25855394	4	4	178	1	0	0	0	0	0	1	0	0	14418	740	26	2	834	2	SLC17A3	6	25855394	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5078	25855394	145259673	266	95820											
MDC1	9656	broad.mit.edu	37	chr6	30671005	30671005	+	Frame_Shift_Del	DEL	C	C	-													ccgctgaaccagccagacttCcccccagtgccagcacagcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:30671004_30671004TC>T	uc003nrg.4	-	11	6182	c.5742_5742GA>A	c.(5740-5742)ggafs	p.G1914fs	MDC1_uc003nrf.4_Frame_Shift_Del_p.G545fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1914	BRCT 1.|Required for nuclear localization (NLS2).				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						CAGCCAGACTTCCCCCCAGTG	0.632								Other conserved DNA damage response genes					-	30671005	C	-	30671005	7	5	178	1	0	1	0	1	0	0	0	0	9403	855	30	0	544	0	MDC1	6	30671005	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	4815611	30671005	140444062	267	95821											
HLA-C	3107	broad.mit.edu	37	chr6	31323363	31323363	+	Frame_Shift_Del	DEL	G	G	-													ggtgggtcacgtgtgtctttGgggggtctgatgggaagagt					rs77061046		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:31323362_31323362TG>T	uc003nth.2	-	3	681	c.627_627CA>A	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	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	MHC class I protein complex|integral to membrane				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						CGTGTGTCTTTGGGGGGTCTG	0.577													-	31323363	G	-	31323363	7	5	178	1	0	1	0	1	0	0	0	0	7197	1348	47	0		0	HLA-C	6	31323363	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	652358	31323363	139791704	268	95822											
SLC44A4	80736	broad.mit.edu	37	chr6	31833683	31833683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcagagattaaggggAaggtagggatgtcctggggc	19	4	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:31833683A>G	uc010jti.2	-	14	1520	c.1454T>C	c.(1453-1455)TTC>TCC	p.F485S	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	485	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GATTAAGGGGAAGGTAGGGAT	0.622													G	31833683	A	G	31833683	3	3	178	1	0	0	0	0	1	0	0	0	14638	246	9	3	710	3	SLC44A4	6	31833683	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	510320	31833683	139281384	269	95823											
NOTCH4	4855	broad.mit.edu	37	chr6	32169918	32169918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagagtcacactgtggGtggcactgcccgtcccggaa	12	13	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:32169918G>A	uc003obb.2	-	21	3829	c.3690C>T	c.(3688-3690)CAC>CAT	p.H1230H	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1230	LNR 2.|Extracellular (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CACACTGTGGGTGGCACTGCC	0.617													A	32169918	G	A	32169918	2	1	178	1	0	0	0	0	0	0	0	1	10551	1252	44	4		4	NOTCH4	6	32169918	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	336235	32169918	138945149	270	95824											
TAP1	6890	broad.mit.edu	37	chr6	32821048	32821048	+	Frame_Shift_Del	DEL	G	G	-													ctggtgctatccgcggacccGggggctccccatgagatcag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:32821048delG	uc003ocg.2	-	1	701	c.546delC	c.(544-546)CCCfs	p.P182fs	TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	182	Lumenal (Potential).				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			skin(1)	1						CCGCGGACCCGGGGGCTCCCC	0.647													-	32821048	G	-	32821048	7	5	178	1	0	1	0	1	0	0	0	0	15547	1103	39	0	1924	0	TAP1	6	32821048	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	651130	32821048	138294019	271	95825											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975851	32975851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagatgggctttgattgcGgcgatgccggccagcccgcc	14	14	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:32975851G>A	uc003ocr.2	-	2	346	c.270C>T	c.(268-270)GCC>GCT	p.A90A	HLA-DOA_uc010juj.2_Silent_p.A60A|HLA-DOA_uc010jui.2_Silent_p.A90A	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	90	Extracellular (Potential).|Alpha-1.				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				0						CTTTGATTGCGGCGATGCCGG	0.637													A	32975851	G	A	32975851	2	1	178	1	0	0	0	0	0	0	0	1	7200	1103	39	1		1	HLA-DOA	6	32975851	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	154803	32975851	138139216	272	95826											
COL11A2	1302	broad.mit.edu	37	chr6	33152008	33152008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatagccataggtgtaatCgtagggcccttcaggggggt	14	10	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:33152008C>T	uc003ocx.1	-	8	1261	c.1033G>A	c.(1033-1035)GAT>AAT	p.D345N	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	345	Nonhelical 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			ovary(3)|skin(2)	5						TAGGTGTAATCGTAGGGCCCT	0.597													T	33152008	C	T	33152008	3	4	178	1	0	0	0	0	1	0	0	0	3668	884	31	1	4413	1	COL11A2	6	33152008	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	176157	33152008	137963059	273	95827											
ITPR3	3710	broad.mit.edu	37	chr6	33632704	33632704	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtggattcagagcaccaaTgtgcccattgacatcgagga	11	10	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:33632704T>C	uc011drk.1	+	12	1425	c.1206T>C	c.(1204-1206)AAT>AAC	p.N402N		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	402	Cytoplasmic (Potential).|MIR 5.				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						AGAGCACCAATGTGCCCATTG	0.507													C	33632704	T	C	33632704	2	2	178	1	0	0	0	0	0	0	0	1	7922	1461	51	3		3	ITPR3	6	33632704	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	480696	33632704	137482363	274	95828											
USP49	25862	broad.mit.edu	37	chr6	41766584	41766584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagagaggagagcatgtccCtgcagcagtaaggttccatg	13	9	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:41766584C>A	uc003ori.2	-	7	1976	c.1754G>T	c.(1753-1755)AGG>ATG	p.R585M		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	585					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			GAGCATGTCCCTGCAGCAGTA	0.498													A	41766584	C	A	41766584	3	1	178	1	0	0	0	0	1	0	0	0	17077	681	24	5	172	5	USP49	6	41766584	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	8133880	41766584	129348483	275	95829											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974334	42974334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactcaggggggccccagaTtgtcaagaaggagcgacggc	16	10	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:42974334T>C	uc003oth.2	+	3	325	c.239T>C	c.(238-240)ATT>ACT	p.I80T	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.I80T|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	80					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			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)			GGGCCCCAGATTGTCAAGAAG	0.527													C	42974334	T	C	42974334	3	2	178	1	0	0	0	0	1	0	0	0	12395	1493	52	3	249	3	PPP2R5D	6	42974334	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1207750	42974334	128140733	276	95830											
CUL9	23113	broad.mit.edu	37	chr6	43182994	43182994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtatgccgctccagagCccatggggccctgccggggt	15	13	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:43182994C>T	uc003ouk.2	+	30	5941	c.5866C>T	c.(5866-5868)CCC>TCC	p.P1956S	CUL9_uc003oul.2_Missense_Mutation_p.P1928S|CUL9_uc010jyk.2_Missense_Mutation_p.P1108S|CUL9_uc003oun.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1956					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CGCTCCAGAGCCCATGGGGCC	0.612													T	43182994	C	T	43182994	3	4	178	1	0	0	0	0	1	0	0	0	4061	739	26	2	5980	2	CUL9	6	43182994	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	208660	43182994	127932073	277	95831											
TTBK1	84630	broad.mit.edu	37	chr6	43251219	43251219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtgaccacaggggtcgGgggcgtggcagtcacctcct	16	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:43251219G>A	uc003ouq.1	+	14	3020	c.2741G>A	c.(2740-2742)GGG>GAG	p.G914E		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	914						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACAGGGGTCGGGGGCGTGGCA	0.627													A	43251219	G	A	43251219	3	1	178	1	0	0	0	0	1	0	0	0	16673	1232	43	4	2791	4	TTBK1	6	43251219	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	68225	43251219	127863848	278	95832											
TJAP1	93643	broad.mit.edu	37	chr6	43473430	43473430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgctgcccattaacaGgggcacagaggaggggccag	16	11	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:43473430G>T	uc003ovd.2	+	11	1887	c.1511G>T	c.(1510-1512)AGG>ATG	p.R504M	TJAP1_uc003ovf.2_Missense_Mutation_p.R494M|TJAP1_uc003ove.2_Missense_Mutation_p.R494M|TJAP1_uc003ovc.2_Missense_Mutation_p.R494M|TJAP1_uc010jyp.2_Missense_Mutation_p.R463M|TJAP1_uc011dvh.1_Missense_Mutation_p.R494M|TJAP1_uc003ovg.2_Missense_Mutation_p.R370M|TJAP1_uc011dvi.1_Missense_Mutation_p.R504M|TJAP1_uc011dvj.1_Missense_Mutation_p.R304M|TJAP1_uc003ovi.2_Missense_Mutation_p.R370M	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	504						Golgi apparatus|tight junction	protein binding				0	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)			CCCATTAACAGGGGCACAGAG	0.642													T	43473430	G	T	43473430	3	4	178	1	0	0	0	0	1	0	0	0	15925	1000	35	5	1541	5	TJAP1	6	43473430	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	222211	43473430	127641637	279	95833											
TMEM63B	55362	broad.mit.edu	37	chr6	44102354	44102354	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggccacactgggcacCacagccctcaacaacagcaa	8	17	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:44102354C>A	uc003owr.2	+	2	97	c.33C>A	c.(31-33)ACC>ACA	p.T11T	TMEM63B_uc003owq.1_Silent_p.T11T|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.2_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	11						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	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)			CACTGGGCACCACAGCCCTCA	0.667													A	44102354	C	A	44102354	2	1	178	1	0	0	0	0	0	0	0	1	16188	581	21	5		5	TMEM63B	6	44102354	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	628924	44102354	127012713	280	95834											
TFAP2B	7021	broad.mit.edu	37	chr6	50807989	50807989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacctgcactcccgaaAgaatatgctgttggccacca	10	12	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:50807989A>C	uc003pag.2	+	6	1227	c.1061A>C	c.(1060-1062)AAG>ACG	p.K354T		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	354					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				0	Lung NSC(77;0.156)					CACTCCCGAAAGAATATGCTG	0.547													C	50807989	A	C	50807989	3	2	178	1	0	0	0	0	1	0	0	0	15785	72	3	5	1083	5	TFAP2B	6	50807989	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	6705635	50807989	120307078	281	95835											
ICK	22858	broad.mit.edu	37	chr6	52878581	52878581	+	Frame_Shift_Del	DEL	G	G	-													aggggtacgtgagatgcagaGggggctggctggcttgatgc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:52878580_52878580AG>A	uc003pbh.2	-	9	1522	c.1032_1032CT>T	c.(1030-1032)cctfs	p.P344fs	ICK_uc003pbi.2_Frame_Shift_Del_p.P344fs	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	344					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGAGATGCAGAGGGGGCTGGC	0.577													-	52878581	G	-	52878581	7	5	178	1	0	1	0	1	0	0	0	0	7484	1000	35	0	891	0	ICK	6	52878581	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	2070592	52878581	118236486	282	95836											
BAI3	577	broad.mit.edu	37	chr6	69348994	69348994	+	Frame_Shift_Del	DEL	A	A	-													ctaatttcccaggattacagAaaaaaggggaagaagatcag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:69348994delA	uc003pev.3	+	3	875	c.427delA	c.(427-429)AAAfs	p.K143fs	BAI3_uc010kak.2_Frame_Shift_Del_p.K143fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	143	CUB.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AGGATTACAGAAAAAAGGGGA	0.353													-	69348994	A	-	69348994	7	5	178	1	0	1	0	1	0	0	0	0	1300	247	9	0	429	0	BAI3	6	69348994	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	16470413	69348994	101766073	283	95837											
BAI3	577	broad.mit.edu	37	chr6	69653796	69653796	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaggccaaagaacaagaAcaaggtcatgcacacctcct	9	12	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:69653796A>C	uc003pev.3	+	6	1553	c.1105A>C	c.(1105-1107)ACA>CCA	p.T369P	BAI3_uc010kak.2_Missense_Mutation_p.T369P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	369	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AAGAACAAGAACAAGGTCATG	0.453													C	69653796	A	C	69653796	3	2	178	1	0	0	0	0	1	0	0	0	1300	43	2	5	1119	5	BAI3	6	69653796	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	304802	69653796	101461271	284	95838											
CD109	135228	broad.mit.edu	37	chr6	74528179	74528179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attaagtggctttatggtgcCttcagaagcaatttctctga	9	7	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:74528179C>A	uc003php.2	+	31	4405	c.3980C>A	c.(3979-3981)CCT>CAT	p.P1327H	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.P1310H|CD109_uc010kba.2_Missense_Mutation_p.P1250H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	1327						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						TTTATGGTGCCTTCAGAAGCA	0.408													A	74528179	C	A	74528179	3	1	178	1	0	0	0	0	1	0	0	0	2963	681	24	5	4102	5	CD109	6	74528179	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4874383	74528179	96586888	285	95839											
IBTK	25998	broad.mit.edu	37	chr6	82933340	82933340	+	Splice_Site	DEL	A	A	-													tgggatctagcaaacaacctAaaaaatgatacaaataagca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:82933339_82933339TA>T	uc003pjl.1	-	8	1471	c.944_splice	c.e8-1	p.G315_splice	IBTK_uc011dyv.1_Splice_Site_p.G315_splice|IBTK_uc011dyw.1_Splice_Site_p.G315_splice|IBTK_uc010kbi.1_Splice_Site_p.G9_splice|IBTK_uc003pjm.2_Splice_Site_p.G315_splice	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	315					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)		GCAAACAACCTAAAAAATGAT	0.423													-	82933340	A	-	82933340	8	5	178	1	0	1	0	1	0	0	1	0	7476	377	13	0		0	IBTK	6	82933340	Splice_Site	DEL	A	TCGA-CG-4465-01A-01D-1158-08	8405161	82933340	88181727	286	95840											
TBX18	9096	broad.mit.edu	37	chr6	85446536	85446536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaacatctgccgatccGtcatggtcccactcggtgag	13	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:85446536G>A	uc003pkl.1	-	8	1691	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		CTGCCGATCCGTCATGGTCCC	0.527													A	85446536	G	A	85446536	3	1	178	1	0	0	0	0	1	0	0	0	15650	1145	40	1	136	1	TBX18	6	85446536	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2513196	85446536	85668531	287	95841											
RNGTT	8732	broad.mit.edu	37	chr6	89650829	89650829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttgagagcatgctgggatgGaaccgattttcttcagcaac	11	8	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:89650829G>T	uc003pmr.2	-	2	355	c.135C>A	c.(133-135)TTC>TTA	p.F45L	RNGTT_uc003pms.2_Missense_Mutation_p.F45L|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Missense_Mutation_p.F45L	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	45	TPase.				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			upper_aerodigestive_tract(1)	1		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)		TGCTGGGATGGAACCGATTTT	0.343													T	89650829	G	T	89650829	3	4	178	1	0	0	0	0	1	0	0	0	13503	1165	41	5	1718	5	RNGTT	6	89650829	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4204293	89650829	81464238	288	95842											
WASF1	8936	broad.mit.edu	37	chr6	110448716	110448716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgccaaggaaatattgGttacacattccagttcattc	6	8	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:110448716G>A	uc003ptv.1	-	4	926	c.89C>T	c.(88-90)ACC>ATC	p.T30I	WASF1_uc003ptw.1_Missense_Mutation_p.T30I|WASF1_uc003ptx.1_Missense_Mutation_p.T30I|WASF1_uc003pty.1_Missense_Mutation_p.T30I|WASF1_uc003ptz.1_Missense_Mutation_p.T30I	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	30					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGAAATATTGGTTACACATTC	0.363													A	110448716	G	A	110448716	3	1	178	1	0	0	0	0	1	0	0	0	17249	1261	44	4	1622	4	WASF1	6	110448716	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	20797887	110448716	60666351	289	95843											
HS3ST5	222537	broad.mit.edu	37	chr6	114378702	114378702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgatgaggcgatctccatCgacgacatgaaattgctcaa	10	10	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:114378702C>T	uc003pwg.3	-	2	792	c.760G>A	c.(760-762)GAT>AAT	p.D254N	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.D254N	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	254	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2		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)		CGATCTCCATCGACGACATGA	0.418													T	114378702	C	T	114378702	3	4	178	1	0	0	0	0	1	0	0	0	7368	884	31	1	284	1	HS3ST5	6	114378702	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3929986	114378702	56736365	290	95844											
TRMT11	60487	broad.mit.edu	37	chr6	126359854	126359854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attttccaaccaaacagaatCgggaccagtattcacatctg	6	11	2	1	rs142681128	by1000genomes	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:126359854C>T	uc003qam.2	+	13	1385	c.1264C>T	c.(1264-1266)CGG>TGG	p.R422W	TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Missense_Mutation_p.R417W	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11	422					tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)		CAAACAGAATCGGGACCAGTA	0.299													T	126359854	C	T	126359854	3	4	178	1	0	0	0	0	1	0	0	0	16559	875	31	1	1314	1	TRMT11	6	126359854	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	11981152	126359854	44755213	291	95845											
KIAA1244	57221	broad.mit.edu	37	chr6	138644821	138644821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagatacgtccttgtgAcagcgggccctgtgttcact	12	11	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:138644821A>T	uc003qhu.2	+	30	4780	c.4780A>T	c.(4780-4782)ACA>TCA	p.T1594S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1594					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGTCCTTGTGACAGCGGGCCC	0.368													T	138644821	A	T	138644821	3	4	178	1	0	0	0	0	1	0	0	0	8217	275	10	5	4898	5	KIAA1244	6	138644821	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	12284967	138644821	32470246	292	95846											
ECT2L	345930	broad.mit.edu	37	chr6	139203986	139203986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcaacaattaccctgTcattctgaaaactattgaga	4	9	4	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:139203986T>C	uc003qif.1	+	14	2109	c.2006T>C	c.(2005-2007)GTC>GCC	p.V669A	ECT2L_uc011edq.1_Missense_Mutation_p.V600A	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	669	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						AATTACCCTGTCATTCTGAAA	0.423													C	139203986	T	C	139203986	3	2	178	1	0	0	0	0	1	0	0	0	4902	1667	58	3	2060	3	ECT2L	6	139203986	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	559165	139203986	31911081	293	95847											
TXLNB	167838	broad.mit.edu	37	chr6	139564337	139564337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttttcagatatttctgCgtctctgatttttttgtgga	7	7	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:139564337C>T	uc011eds.1	-	10	1546	c.1381G>A	c.(1381-1383)GCA>ACA	p.A461T		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	461	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GATATTTCTGCGTCTCTGATT	0.433													T	139564337	C	T	139564337	3	4	178	1	0	0	0	0	1	0	0	0	16785	768	27	1	677	1	TXLNB	6	139564337	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	360351	139564337	31550730	294	95848											
UST	10090	broad.mit.edu	37	chr6	149068723	149068723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactacggcttctgcatgGccaccctgctggtcttctgc	12	14	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:149068723G>A	uc003qmg.2	+	1	453	c.157G>A	c.(157-159)GCC>ACC	p.A53T		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	53	Helical; Signal-anchor for type II membrane protein; (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CTTCTGCATGGCCACCCTGCT	0.682													A	149068723	G	A	149068723	3	1	178	1	0	0	0	0	1	0	0	0	17090	1203	42	2	159	2	UST	6	149068723	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	9504386	149068723	22046344	295	95849											
ARID1B	57492	broad.mit.edu	37	chr6	157511330	157511330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaacaaggacccctttgGgggaatgagaaaaggtacgt	13	9	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:157511330G>T	uc003qqn.2	+	15	3946	c.3794G>T	c.(3793-3795)GGG>GTG	p.G1265V	ARID1B_uc003qqo.2_Missense_Mutation_p.G1225V|ARID1B_uc003qqp.2_Missense_Mutation_p.G1212V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1270					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACCCCTTTGGGGGAATGAGA	0.562													T	157511330	G	T	157511330	3	4	178	1	0	0	0	0	1	0	0	0	914	1232	43	5	3906	5	ARID1B	6	157511330	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8442607	157511330	13603737	296	95850											
LPA	4018	broad.mit.edu	37	chr6	161010743	161010743	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggctttgctccgttggTgctgaaattcaaagaggaga	15	6	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:161010743T>G	uc003qtl.2	-	25	3909	c.3789A>C	c.(3787-3789)GCA>GCC	p.A1263A		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3771	Kringle 34.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	GCTCCGTTGGTGCTGAAATTC	0.433													G	161010743	T	G	161010743	2	3	178	1	0	0	0	0	0	0	0	1	8903	1710	59	5		5	LPA	6	161010743	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	3499413	161010743	10104324	297	95851											
PDE10A	10846	broad.mit.edu	37	chr6	165844963	165844963	+	Splice_Site	DEL	A	A	-													aagatttgctgttgcaacctAaaaaaaacaagaaatacata							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				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)	TGTTGCAACCTAAAAAAAACA	0.328													-	165844963	A	-	165844963	8	5	178	1	0	1	0	1	0	0	1	0	11630	377	13	0		0	PDE10A	6	165844963	Splice_Site	DEL	A	TCGA-CG-4465-01A-01D-1158-08	4834220	165844963	5270104	298	95852											
RNF216	54476	broad.mit.edu	37	chr7	5781027	5781027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcctagatttgataacagCtctgtctctgagtcttcgga	8	10	4	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:5781027C>A	uc003soy.1	-	4	640	c.450G>T	c.(448-450)GAG>GAT	p.E150D	RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E207D	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	150					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|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTGATAACAGCTCTGTCTCTG	0.458													A	5781027	C	A	5781027	3	1	178	1	0	0	0	0	1	0	0	0	13480	796	28	5	2206	5	RNF216	7	5781027	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08		5781027	153357636	299	95853											
USP42	84132	broad.mit.edu	37	chr7	6180573	6180573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaattgcaagggcgtttcAgatacttttgatccatatct	7	7	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:6180573A>G	uc011jwo.1	+	7	876	c.753A>G	c.(751-753)TCA>TCG	p.S251S	USP42_uc011jwn.1_Silent_p.S96S|USP42_uc010kth.1_Silent_p.S184S|USP42_uc011jwp.1_Silent_p.S251S|USP42_uc011jwq.1_Silent_p.S58S|USP42_uc011jwr.1_Silent_p.S96S	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	251					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGGGCGTTTCAGATACTTTTG	0.264													G	6180573	A	G	6180573	2	3	178	1	0	0	0	0	0	0	0	1	17070	175	7	3		3	USP42	7	6180573	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	399546	6180573	152958090	300	95854											
MIOS	54468	broad.mit.edu	37	chr7	7613797	7613797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatcattggtttatgcaGgaattaaatcaattgtaaag	9	3	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:7613797G>A	uc003srf.2	+	5	1671	c.1363G>A	c.(1363-1365)GGA>AGA	p.G455R		NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	455											0						GGTTTATGCAGGAATTAAATC	0.318													A	7613797	G	A	7613797	3	1	178	1	0	0	0	0	1	0	0	0	9589	1001	35	4	1369	4	MIOS	7	7613797	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1433224	7613797	151524866	301	95855											
TAX1BP1	8887	broad.mit.edu	37	chr7	27868391	27868391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgactatgaccagcaGgtgtttgaaaggcatgtgca	11	10	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:27868391G>A	uc003szl.2	+	17	2471	c.2313G>A	c.(2311-2313)CAG>CAA	p.Q771Q	TAX1BP1_uc011jzo.1_Silent_p.Q729Q|TAX1BP1_uc003szk.2_Silent_p.Q729Q|TAX1BP1_uc011jzp.1_Silent_p.Q572Q	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	771					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)	1			GBM - Glioblastoma multiforme(3;0.0823)			ATGACCAGCAGGTGTTTGAAA	0.383													A	27868391	G	A	27868391	2	1	178	1	0	0	0	0	0	0	0	1	15591	991	35	4		4	TAX1BP1	7	27868391	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	20254594	27868391	131270272	302	95856											
RP9	6100	broad.mit.edu	37	chr7	33136933	33136933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgataaagaaagggcattCtttgtcacccgttcggtgac	10	8	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:33136933C>T	uc003tdm.2	-	4	373	c.355G>A	c.(355-357)GAA>AAA	p.E119K		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	119	PIM1-binding (By similarity).|CCHC-type.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			AAAGGGCATTCTTTGTCACCC	0.373													T	33136933	C	T	33136933	3	4	178	1	0	0	0	0	1	0	0	0	13535	922	32	4	322	4	RP9	7	33136933	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5268542	33136933	126001730	303	95857											
ELMO1	9844	broad.mit.edu	37	chr7	37355559	37355560	+	Frame_Shift_Ins	INS	-	-	T													ttattattgcagacagtggtINStttttctgcaaaataacaaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:37355558_37355559G>GT	uc022abv.1	-	2	794_795	c.84_85C>AC	c.(82-87)aaaccafs	p.K28fs	ELMO1_uc003tfk.2_Frame_Shift_Ins_p.K28fs|ELMO1_uc010kxg.2_Frame_Shift_Ins_p.K28fs	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	28					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|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						GCAGACAGTGGTTTTTTCTGCA	0.272													T	37355560	-	T	37355559	7	5	178	1	0	1	1	0	0	0	0	0	5065	1722	60	0	2179	0	ELMO1	7	37355559	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	4218626	37355559	121783104	304	95858											
IGFBP3	3486	broad.mit.edu	37	chr7	45957023	45957023	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cggcgctgcggtcttcctccGactcactagcatttccttaa	8	15	2	0	rs139238956		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:45957023G>T	uc003tns.2	-	2	551	c.419C>A	c.(418-420)TCG>TAG	p.S140*	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Nonsense_Mutation_p.S146*|IGFBP3_uc003tnt.2_Nonsense_Mutation_p.S43*	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	140	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	GTCTTCCTCCGACTCACTAGC	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45957023	G	T	45957023	4	4	178	1	0	0	0	0	0	1	0	0	7580	1059	37	5	468	5	IGFBP3	7	45957023	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8601464	45957023	113181640	305	95859											
POM121L12	285877	broad.mit.edu	37	chr7	53104076	53104076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccagggcctctgaagCcgagcctcggcccctggagc	14	17	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:53104076C>T	uc003tpz.2	+	1	728	c.712C>T	c.(712-714)CCG>TCG	p.P238S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	238											0						GCCTCTGAAGCCGAGCCTCGG	0.657													T	53104076	C	T	53104076	3	4	178	1	0	0	0	0	1	0	0	0	12241	739	26	2	714	2	POM121L12	7	53104076	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	7147053	53104076	106034587	306	95860											
TBL2	26608	broad.mit.edu	37	chr7	72992829	72992829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccatcagggccagcagCccaagcaacaccgacagccc	10	18	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:72992829C>T	uc003tyh.2	-	1	185	c.51G>A	c.(49-51)GGG>GGA	p.G17G	TBL2_uc011kex.1_5'Flank|TBL2_uc010lbg.2_5'UTR|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_5'UTR|TBL2_uc010lbh.2_5'UTR	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	17											0		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCCAGCAGCCCAAGCAACA	0.711													T	72992829	C	T	72992829	2	4	178	1	0	0	0	0	0	0	0	1	15639	726	26	2		2	TBL2	7	72992829	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	19888753	72992829	86145834	307	95861											
SEMA3D	223117	broad.mit.edu	37	chr7	84649614	84649614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctttgaaatgctgaCaactttgaggacagttccaa	7	9	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:84649614C>T	uc003uic.2	-	12	1478	c.1438G>A	c.(1438-1440)GTC>ATC	p.V480I	SEMA3D_uc010led.2_Missense_Mutation_p.V480I|SEMA3D_uc003uib.2_Missense_Mutation_p.V119I	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	480	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						GAAATGCTGACAACTTTGAGG	0.408													T	84649614	C	T	84649614	3	4	178	1	0	0	0	0	1	0	0	0	14027	478	17	4	919	4	SEMA3D	7	84649614	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	11656785	84649614	74489049	308	95862											
C7orf63	79846	broad.mit.edu	37	chr7	89939466	89939466	+	Frame_Shift_Del	DEL	A	A	-													ttgatacggatattgctcttAaaaaactgcccattcgagga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:89939466delA	uc010lep.2	+	23	2991	c.2740delA	c.(2740-2742)AAAfs	p.K914fs	C7orf63_uc011khj.1_Frame_Shift_Del_p.K896fs|C7orf63_uc011khk.1_Frame_Shift_Del_p.K430fs	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	914							binding			ovary(1)	1						TATTGCTCTTAAAAAACTGCC	0.448													-	89939466	A	-	89939466	7	5	178	1	0	1	0	1	0	0	0	0	2409	363	13	0	2830	0	C7orf63	7	89939466	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	5289852	89939466	69199197	309	95863											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539504	94539504	+	Frame_Shift_Del	DEL	T	T	-													ggaatgcatatcgaactgagTttcaggcactgaaaagtacc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:94539503_94539503GT>G	uc003unp.3	+	1	360	c.78_78GT>G	c.(76-78)gagfs	p.E26fs	PPP1R9A_uc010lfj.3_Frame_Shift_Del_p.E26fs|PPP1R9A_uc011kif.2_Frame_Shift_Del_p.E26fs|PPP1R9A_uc003unq.3_Frame_Shift_Del_p.E26fs|PPP1R9A_uc011kig.2_Frame_Shift_Del_p.E26fs	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	26	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)			ATCGAACTGAGTTTCAGGCAC	0.468										HNSCC(28;0.073)			-	94539504	T	-	94539504	7	5	178	1	0	1	0	1	0	0	0	0	12378	1725	60	0	81	0	PPP1R9A	7	94539504	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	4600038	94539504	64599159	310	95864											
DLX5	1749	broad.mit.edu	37	chr7	96651523	96651523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtcaatcccagcgaggCggccagctcggcgcgttccg	14	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:96651523C>T	uc003uon.2	-	2	722	c.514G>A	c.(514-516)GCC>ACC	p.A172T	DLX5_uc011kim.1_Missense_Mutation_p.A172T	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	172	Homeobox.				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			ovary(1)	1	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)					CCCAGCGAGGCGGCCAGCTCG	0.562													T	96651523	C	T	96651523	3	4	178	1	0	0	0	0	1	0	0	0	4574	768	27	1	363	1	DLX5	7	96651523	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2112019	96651523	62487140	311	95865											
SMURF1	57154	broad.mit.edu	37	chr7	98655080	98655080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggcattggagagcaGccgcacacagcccaggaagc	14	12	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:98655080G>A	uc003upu.1	-	4	618	c.298C>T	c.(298-300)CTG>TTG	p.L100L	SMURF1_uc003upv.1_Silent_p.L100L|SMURF1_uc003upt.2_Silent_p.L100L	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	100					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			skin(2)|ovary(1)|lung(1)	4	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)			TTGGAGAGCAGCCGCACACAG	0.453													A	98655080	G	A	98655080	2	1	178	1	0	0	0	0	0	0	0	1	14819	962	34	2		2	SMURF1	7	98655080	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2003557	98655080	60483583	312	95866											
SPDYE3	441272	broad.mit.edu	37	chr7	99917575	99917575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcttatgacccagagCactgggtgtgggcgcgagat	15	10	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:99917575C>T	uc003uug.1	+	5	721	c.481C>T	c.(481-483)CAC>TAC	p.H161Y	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	538											0						TGACCCAGAGCACTGGGTGTG	0.607													T	99917575	C	T	99917575	3	4	178	1	0	0	0	0	1	0	0	0	15029	710	25	2	1650	2	SPDYE3	7	99917575	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1262495	99917575	59221088	313	95867											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-													aaacacggccagaaacacccGggggggaggctggaagatgc					rs138002558	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:100855926_100855926CG>C	uc003uyd.3	-	8	1346	c.890_890CG>G	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(2)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGG	0.642													-	100855927	G	-	100855927	7	5	178	1	0	1	0	1	0	0	0	0	12103	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	938352	100855927	58282736	314	95868											
CUX1	1523	broad.mit.edu	37	chr7	101892233	101892233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgcgcgacaaccccctgCgcaagaagaaggccgcgaac	11	16	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:101892233C>A	uc003uyx.3	+	24	4467	c.4429C>A	c.(4429-4431)CGC>AGC	p.R1477S	CUX1_uc003uys.3_Missense_Mutation_p.R1488S|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1477					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CAACCCCCTGCGCAAGAAGAA	0.701													A	101892233	C	A	101892233	3	1	178	1	0	0	0	0	1	0	0	0	4064	768	27	5	4590	5	CUX1	7	101892233	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1036306	101892233	57246430	315	95869											
TMEM168	64418	broad.mit.edu	37	chr7	112424191	112424192	+	Frame_Shift_Ins	INS	-	-	A													gatcagttatcaggcaaataINSaaaaaacacgcaaaagcaat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:112424190_112424191T>TA	uc003vgn.3	-	1	1082_1083	c.690_691A>TA	c.(688-693)tttattfs	p.F230fs	TMEM168_uc010lju.3_Frame_Shift_Ins_p.F230fs|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	230						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						ATCAGGCAAATAAAAAAACACG	0.332													A	112424192	-	A	112424191	7	5	178	1	0	1	1	0	0	0	0	0	16080	359	13	0	1419	0	TMEM168	7	112424191	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	10531958	112424191	46714472	316	95870											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519938	113519938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagtttcctctgaaggTtgatgtgtacagtcatctcc	10	8	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:113519938T>C	uc010ljy.1	-	4	1240	c.1209A>G	c.(1207-1209)CAA>CAG	p.Q403Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	403					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CCTCTGAAGGTTGATGTGTAC	0.403													C	113519938	T	C	113519938	2	2	178	1	0	0	0	0	0	0	0	1	12371	1722	60	3		3	PPP1R3A	7	113519938	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1095747	113519938	45618725	317	95871											
AHCYL2	23382	broad.mit.edu	37	chr7	129029550	129029550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagccaaaatcgtgggttGcacacacatcactgctcaga	10	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:129029550G>A	uc011kov.1	+	4	749	c.695G>A	c.(694-696)TGC>TAC	p.C232Y	AHCYL2_uc003vot.2_Missense_Mutation_p.C231Y|AHCYL2_uc003vov.2_Missense_Mutation_p.C129Y|AHCYL2_uc011kow.1_Missense_Mutation_p.C130Y|AHCYL2_uc011kox.1_Missense_Mutation_p.C129Y	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	232					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						ATCGTGGGTTGCACACACATC	0.348													A	129029550	G	A	129029550	3	1	178	1	0	0	0	0	1	0	0	0	411	1319	46	2	831	2	AHCYL2	7	129029550	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	15509612	129029550	30109113	318	95872											
TSGA13	114960	broad.mit.edu	37	chr7	130357652	130357652	+	Frame_Shift_Del	DEL	T	T	-													gtttcagcttagatcttaacTtttttttctgaggcatgcgg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:130357651_130357651CT>C	uc003vqi.3	-	5	910	c.453_453AG>G	c.(451-453)aagfs	p.K151fs	TSGA13_uc003vqj.3_Frame_Shift_Del_p.K151fs	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	151										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TAGATCTTAACTTTTTTTTCT	0.453													-	130357652	T	-	130357652	7	5	178	1	0	1	0	1	0	0	0	0	16616	1609	56	0	387	0	TSGA13	7	130357652	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	1328102	130357652	28781011	319	95873											
SLC13A4	26266	broad.mit.edu	37	chr7	135384207	135384207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggatatgctcagggagagGcacttgcagatcatctggtc	13	8	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:135384207G>A	uc003vta.2	-	8	1490	c.801C>T	c.(799-801)TGC>TGT	p.C267C	SLC13A4_uc003vtb.2_Silent_p.C268C	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	267						integral to plasma membrane	sodium:sulfate symporter activity				0						TCAGGGAGAGGCACTTGCAGA	0.542													A	135384207	G	A	135384207	2	1	178	1	0	0	0	0	0	0	0	1	14394	1195	42	2		2	SLC13A4	7	135384207	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5026555	135384207	23754456	320	95874											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394386	138394386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagtgcagtcgcagggcGtgcaggaaagcagagaggcc	16	10	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:138394386G>A	uc003vuf.2	-	20	2650	c.2412C>T	c.(2410-2412)CAC>CAT	p.H804H	ATP6V0A4_uc003vug.2_Silent_p.H804H|ATP6V0A4_uc003vuh.2_Silent_p.H804H	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	804	Cytoplasmic (Potential).				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			pancreas(1)	1						GTCGCAGGGCGTGCAGGAAAG	0.383													A	138394386	G	A	138394386	2	1	178	1	0	0	0	0	0	0	0	1	1170	1136	40	1		1	ATP6V0A4	7	138394386	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3010179	138394386	20744277	321	95875											
DENND2A	27147	broad.mit.edu	37	chr7	140273783	140273783	+	Frame_Shift_Del	DEL	A	A	-													tcctctctgaattttgtcggAaaaaagcaggtttggacaat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:140273783delA	uc010lnj.2	-	4	1416	c.1271delT	c.(1270-1272)TTCfs	p.F424fs	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Frame_Shift_Del_p.F424fs|DENND2A_uc003vvw.2_Frame_Shift_Del_p.F424fs|DENND2A_uc003vvx.2_Frame_Shift_Del_p.F424fs	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	424										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					ATTTTGTCGGAAAAAAGCAGG	0.493													-	140273783	A	-	140273783	7	5	178	1	0	1	0	1	0	0	0	0	4429	246	9	0	1818	0	DENND2A	7	140273783	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	1879397	140273783	18864880	322	95876											
BRAF	673	broad.mit.edu	37	chr7	140500228	140500228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtctctgctaaggacGcctcttcctgtggtattggg	14	10	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:140500228G>A	uc003vwc.3	-	7	975	c.914C>T	c.(913-915)GCG>GTG	p.A305V		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	305					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		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGCTAAGGACGCCTCTTCCTG	0.498		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				A	140500228	G	A	140500228	3	1	178	1	0	0	0	0	1	0	0	0	1496	1087	38	1	1434	1	BRAF	7	140500228	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	226445	140500228	18638435	323	95877											
ARHGEF5	7984	broad.mit.edu	37	chr7	144075858	144075858	+	Frame_Shift_Del	DEL	C	C	-													actcttctcttccaaagactCcccccaggtacagtgccttc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:144075857_144075857TC>T	uc003wel.3	+	13	4652	c.4534_4534TC>T	c.(4534-4536)tccfs	p.S1512fs	ARHGEF5_uc003wem.3_Frame_Shift_Del_p.S313fs	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1512					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAAAGACTCCCCCCAGGT	0.557													-	144075858	C	-	144075858	7	5	178	1	0	1	0	1	0	0	0	0	909	855	30	0	4585	0	ARHGEF5	7	144075858	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	3575630	144075858	15062805	324	95878											
MLL3	58508	broad.mit.edu	37	chr7	151873581	151873581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgggtttacctgcacaCcctgagaaaaaacatggttt	9	11	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:151873581C>T	uc003wla.2	-	38	9176	c.8957G>A	c.(8956-8958)GGT>GAT	p.G2986D	MLL3_uc003wkz.2_Missense_Mutation_p.G2047D|MLL3_uc003wky.2_Missense_Mutation_p.G495D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2986					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TACCTGCACACCCTGAGAAAA	0.473			N		medulloblastoma								T	151873581	C	T	151873581	3	4	178	1	0	0	0	0	1	0	0	0	9622	507	18	4	5866	4	MLL3	7	151873581	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	7797723	151873581	7265082	325	95879											
NCAPG2	54892	broad.mit.edu	37	chr7	158444986	158444986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggagttctgagtaccCgcaggccttcttccggctgc	13	14	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr7:158444986C>T	uc003wnv.1	-	23	3078	c.2933G>A	c.(2932-2934)CGG>CAG	p.R978Q	NCAPG2_uc010lqu.1_Missense_Mutation_p.R770Q|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.R978Q|NCAPG2_uc011kwe.1_Missense_Mutation_p.R978Q|NCAPG2_uc011kwc.1_Missense_Mutation_p.R479Q|NCAPG2_uc011kwd.1_Missense_Mutation_p.R421Q	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	978					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	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)		TCTGAGTACCCGCAGGCCTTC	0.532													T	158444986	C	T	158444986	3	4	178	1	0	0	0	0	1	0	0	0	10208	666	23	1	522	1	NCAPG2	7	158444986	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6571405	158444986	693677	326	95880											
SOX7	83595	broad.mit.edu	37	chr8	10584155	10584155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcctcttctgggacagcGtcagcgccttccacgacttt	10	15	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:10584155G>A	uc003wtf.2	-	2	339	c.260C>T	c.(259-261)ACG>ATG	p.T87M	SOX7_uc011kwz.1_Missense_Mutation_p.T139M|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	87	HMG box.				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)	1				COAD - Colon adenocarcinoma(149;0.0732)		CTGGGACAGCGTCAGCGCCTT	0.552													A	10584155	G	A	10584155	3	1	178	1	0	0	0	0	1	0	0	0	14956	1145	40	1	910	1	SOX7	8	10584155	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08		10584155	135779867	327	95881											
HR	55806	broad.mit.edu	37	chr8	21980053	21980053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccgggcatcagcttggcAggggcagtgcccccggatat	14	13	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:21980053A>G	uc003xas.2	-	8	2739	c.2074T>C	c.(2074-2076)TGC>CGC	p.C692R	HR_uc003xat.2_Missense_Mutation_p.C692R	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	692							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCAGCTTGGCAGGGGCAGTGC	0.637													G	21980053	A	G	21980053	3	3	178	1	0	0	0	0	1	0	0	0	7347	188	7	3	1543	3	HR	8	21980053	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	11395898	21980053	124383969	328	95882											
REEP4	80346	broad.mit.edu	37	chr8	21996021	21996021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtccacgtctgagggCacagtctttttcctcgtccg	10	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:21996021C>T	uc003xau.1	-	8	1206	c.753G>A	c.(751-753)GTG>GTA	p.V251V	REEP4_uc010ltt.1_3'UTR	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	251						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CGTCTGAGGGCACAGTCTTTT	0.632											OREG0018606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	21996021	C	T	21996021	2	4	178	1	0	0	0	0	0	0	0	1	13207	697	25	2		2	REEP4	8	21996021	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	15968	21996021	124368001	329	95883											
RBPMS	11030	broad.mit.edu	37	chr8	30402104	30402104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagcgcctgctctacctcCtcctgctttcacctatcccg	6	18	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:30402104C>T	uc003xic.1	+	6	1156	c.491C>T	c.(490-492)CCT>CTT	p.P164L	RBPMS_uc003xid.1_Missense_Mutation_p.P164L|RBPMS_uc003xie.1_Missense_Mutation_p.P164L|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Missense_Mutation_p.P164L|RBPMS_uc003xib.2_Missense_Mutation_p.P164L|RBPMS_uc010lvh.1_Missense_Mutation_p.P60L	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing	164					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			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GCTCTACCTCCTCCTGCTTTC	0.557													T	30402104	C	T	30402104	3	4	178	1	0	0	0	0	1	0	0	0	13163	681	24	4	513	4	RBPMS	8	30402104	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	8406083	30402104	115961918	330	95884											
PRKDC	5591	broad.mit.edu	37	chr8	48815306	48815306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggaattctcgaatacacCgaccacaaaaatctcttaaa	4	10	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:48815306C>T	uc003xqi.2	-	27	3149	c.3092G>A	c.(3091-3093)CGG>CAG	p.R1031Q	PRKDC_uc003xqj.2_Missense_Mutation_p.R1031Q|PRKDC_uc011ldh.1_Missense_Mutation_p.R1031Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1031	HEAT 2.				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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCGAATACACCGACCACAAAA	0.383								NHEJ					T	48815306	C	T	48815306	3	4	178	1	0	0	0	0	1	0	0	0	12521	652	23	1	9533	1	PRKDC	8	48815306	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	18413202	48815306	97548716	331	95885											
PRKDC	5591	broad.mit.edu	37	chr8	48845618	48845618	+	Frame_Shift_Del	DEL	C	C	-													ctgtatttcaagtgtaagatCcaatttctcaacaatcttca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:48845618delC	uc003xqi.2	-	16	1795	c.1738delG	c.(1738-1740)GATfs	p.D580fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.D580fs|PRKDC_uc011ldh.1_Frame_Shift_Del_p.D580fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	580					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGTGTAAGATCCAATTTCTCA	0.308								NHEJ					-	48845618	C	-	48845618	7	5	178	1	0	1	0	1	0	0	0	0	12521	855	30	0	10931	0	PRKDC	8	48845618	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	30312	48845618	97518404	332	95886											
MOS	4342	broad.mit.edu	37	chr8	57026480	57026480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggactgctgcagggccgcGcgtccaccgatggggaaaac	16	12	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:57026480G>A	uc011leb.1	-	1	62	c.62C>T	c.(61-63)GCG>GTG	p.A21V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	21							ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGGGCCGCGCGTCCACCGA	0.706													A	57026480	G	A	57026480	3	1	178	1	0	0	0	0	1	0	0	0	9712	1087	38	1	981	1	MOS	8	57026480	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8180862	57026480	89337542	333	95887											
PLAG1	5324	broad.mit.edu	37	chr8	57078932	57078932	+	Frame_Shift_Del	DEL	G	G	-													cctgaagatcctgtgtttgtGgggggagctgggaaacagaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:57078931_57078931TG>T	uc003xsq.4	-	2	1825	c.1374_1374CA>A	c.(1372-1374)ccafs	p.P458fs	PLAG1_uc003xsr.4_Frame_Shift_Del_p.P458fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.P458fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.P376fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.P376fs	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	458	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		P -> T (in dbSNP:rs35883156).			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)			CCTGTGTTTGTGGGGGGAGCT	0.493			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								-	57078932	G	-	57078932	7	5	178	1	0	1	0	1	0	0	0	0	12018	1348	47	0	133	0	PLAG1	8	57078932	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	52452	57078932	89285090	334	95888											
CYP7B1	9420	broad.mit.edu	37	chr8	65528338	65528338	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccttgcatcttggctaActtttctgatgagaagcatt	7	10	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:65528338A>C	uc003xvj.2	-	3	964	c.760T>G	c.(760-762)TTA>GTA	p.L254V		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	254					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			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATCTTGGCTAACTTTTCTGAT	0.368													C	65528338	A	C	65528338	3	2	178	1	0	0	0	0	1	0	0	0	4197	40	2	5	776	5	CYP7B1	8	65528338	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	8449406	65528338	80835684	335	95889											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617403	70617403	+	Frame_Shift_Del	DEL	T	T	-													tctctggcaccaagtttcaaTttttttataatgtagcctcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:70617402_70617402AT>A	uc003xyl.3	-	5	2193	c.1486_1486AT>T	c.(1486-1488)ttgfs	p.L496fs	SLCO5A1_uc010lzb.3_Frame_Shift_Del_p.L441fs|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Frame_Shift_Del_p.L496fs|SLCO5A1_uc010lzc.2_Frame_Shift_Del_p.L441fs	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	496						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)			CCAAGTTTCAATTTTTTTATA	0.403													-	70617403	T	-	70617403	7	5	178	1	0	1	0	1	0	0	0	0	14731	1490	52	0	1081	0	SLCO5A1	8	70617403	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	5089065	70617403	75746619	336	95890											
MSC	9242	broad.mit.edu	37	chr8	72756294	72756294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgacgagttgtcactgggCgaggcgtagctgcgctctac	15	12	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:72756294C>T	uc003xyx.1	-	1	438	c.120G>A	c.(118-120)TCG>TCA	p.S40S	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	40					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGTCACTGGGCGAGGCGTAGC	0.711													T	72756294	C	T	72756294	2	4	178	1	0	0	0	0	0	0	0	1	9868	755	27	1		1	MSC	8	72756294	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2138891	72756294	73607728	337	95891											
ZFHX4	79776	broad.mit.edu	37	chr8	77775680	77775680	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgatcctattcagttgCaggcattacagaatgcaatt	8	8	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:77775680C>T	uc003yav.2	+	11	9982	c.9595C>T	c.(9595-9597)CAG>TAG	p.Q3199*		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3195						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATTCAGTTGCAGGCATTACA	0.428										HNSCC(33;0.089)			T	77775680	C	T	77775680	4	4	178	1	0	0	0	0	0	1	0	0	17632	711	25	2	9768	2	ZFHX4	8	77775680	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5019386	77775680	68588342	338	95892											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885305	88885305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacacatttagtggccctcaAgtcccacagcttgatagttc	7	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:88885305A>C	uc003ydz.2	-	1	992	c.895T>G	c.(895-897)TTG>GTG	p.L299V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	299	WD 1.									ovary(1)	1						GTGGCCCTCAAGTCCCACAGC	0.502													C	88885305	A	C	88885305	3	2	178	1	0	0	0	0	1	0	0	0	4272	69	3	5	296	5	DCAF4L2	8	88885305	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	11109625	88885305	57478717	339	95893											
TP53INP1	94241	broad.mit.edu	37	chr8	95952350	95952350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaagcactcaagagatgCcggtaaacaggaaaagactg	11	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:95952350C>T	uc003yhg.2	-	3	595	c.211G>A	c.(211-213)GCA>ACA	p.A71T	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.A71T	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	71					apoptosis	PML body					0	Breast(36;8.75e-07)					TCAAGAGATGCCGGTAAACAG	0.473													T	95952350	C	T	95952350	3	4	178	1	0	0	0	0	1	0	0	0	16385	739	26	2	545	2	TP53INP1	8	95952350	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	7067045	95952350	50411672	340	95894											
GDF6	392255	broad.mit.edu	37	chr8	97172784	97172784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcatcttgccttccttgCggcttcgcatgcccttggtg	11	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:97172784C>T	uc003yhp.2	-	1	237	c.137G>A	c.(136-138)CGC>CAC	p.R46H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	46					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			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCCTTCCTTGCGGCTTCGCAT	0.662													T	97172784	C	T	97172784	3	4	178	1	0	0	0	0	1	0	0	0	6317	768	27	1	1238	1	GDF6	8	97172784	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1220434	97172784	49191238	341	95895											
MTDH	92140	broad.mit.edu	37	chr8	98703359	98703359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacactggagatgctaatAcaaatggaaaagactgggga	12	5	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:98703359A>G	uc003yhz.2	+	6	1319	c.991A>G	c.(991-993)ACA>GCA	p.T331A	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	331	Cytoplasmic (Potential).				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			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AGATGCTAATACAAATGGAAA	0.413													G	98703359	A	G	98703359	3	3	178	1	0	0	0	0	1	0	0	0	9917	391	14	3	1013	3	MTDH	8	98703359	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1530575	98703359	47660663	342	95896											
TAF2	6873	broad.mit.edu	37	chr8	120844733	120844733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacttataatttatatggCcttgggctttcaaagccctt	6	8	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:120844733C>T	uc003you.2	-	1	342	c.72G>A	c.(70-72)AGG>AGA	p.R24R		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	24					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			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTATATGGCCTTGGGCTTT	0.458													T	120844733	C	T	120844733	2	4	178	1	0	0	0	0	0	0	0	1	15521	738	26	2		2	TAF2	8	120844733	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	22141374	120844733	25519289	343	95897											
GSDMC	56169	broad.mit.edu	37	chr8	130765066	130765066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcggaaatttcgtacTcttgggagagagggagagca	13	7	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:130765066T>C	uc003ysr.2	-	7	1604	c.722A>G	c.(721-723)GAG>GGG	p.E241G		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	241						mitochondrion				ovary(2)|skin(1)	3						aatttcgtactcttgggagag	0													C	130765066	T	C	130765066	3	2	178	1	0	0	0	0	1	0	0	0	6818	1565	54	3	836	3	GSDMC	8	130765066	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	9920333	130765066	15598956	344	95898											
ADCY8	114	broad.mit.edu	37	chr8	132002705	132002705	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagtctccaggaaagcTtggcgctgggcccggtctga	14	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:132002705T>C	uc003ytd.3	-	2	1300	c.1044A>G	c.(1042-1044)CAA>CAG	p.Q348Q	ADCY8_uc010mds.2_Silent_p.Q348Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	348	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCAGGAAAGCTTGGCGCTGGG	0.517										HNSCC(32;0.087)			C	132002705	T	C	132002705	2	2	178	1	0	0	0	0	0	0	0	1	300	1606	56	3		3	ADCY8	8	132002705	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1237639	132002705	14361317	345	95899											
TG	7038	broad.mit.edu	37	chr8	133894712	133894712	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttgctgtctttgctcAggtttggagttgttactgga	12	6	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:133894712A>G	uc003ytw.2	+	7	787	c.746_splice	c.e7-2	p.G249_splice		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		GTCTTTGCTCAGGTTTGGAGT	0.468													G	133894712	A	G	133894712	5	3	178	1	0	0	0	0	0	0	1	0	15810	202	7	3	770	3	TG	8	133894712	Splice_Site	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1892007	133894712	12469310	346	95900											
KCNK9	51305	broad.mit.edu	37	chr8	140715170	140715170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgtcgaacacggcggcGcccaccagcaggtaggtgaa	16	12	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:140715170G>A	uc003yvf.1	-	1	130	c.66C>T	c.(64-66)GGC>GGT	p.G22G	KCNK9_uc003yvg.1_Silent_p.G22G	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	22	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.G22G(1)		ovary(2)|lung(1)	3	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)			ACACGGCGGCGCCCACCAGCA	0.632													A	140715170	G	A	140715170	2	1	178	1	0	0	0	0	0	0	0	1	8072	1074	38	1		1	KCNK9	8	140715170	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	6820458	140715170	5648852	347	95901											
EEF1D	1936	broad.mit.edu	37	chr8	144663432	144663432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttctccacttccagacTggcaatccggacgacgagct	10	14	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:144663432T>C	uc011lki.1	-	4	525	c.256A>G	c.(256-258)AGT>GGT	p.S86G	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.S428G|EEF1D_uc003yyq.1_Missense_Mutation_p.S502G|EEF1D_uc011lkj.1_Missense_Mutation_p.S451G|EEF1D_uc003yyr.2_Missense_Mutation_p.S452G|EEF1D_uc003yyt.2_Missense_Mutation_p.S452G|EEF1D_uc011lkk.1_Missense_Mutation_p.S86G|EEF1D_uc003yys.2_Missense_Mutation_p.S86G|EEF1D_uc003yyv.2_Missense_Mutation_p.S62G|EEF1D_uc003yyu.2_Missense_Mutation_p.S86G|EEF1D_uc011lkl.1_Intron	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	86					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			ovary(1)|kidney(1)|skin(1)	3	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)			ACTTCCAGACTGGCAATCCGG	0.697													C	144663432	T	C	144663432	3	2	178	1	0	0	0	0	1	0	0	0	4926	1580	55	3	609	3	EEF1D	8	144663432	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	3948262	144663432	1700590	348	95902											
PLEC	5339	broad.mit.edu	37	chr8	144990831	144990831	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtactgcacctccaggaaGcgctggccggcctcgtagta	13	13	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:144990831G>C	uc003zaf.1	-	32	13739	c.13569C>G	c.(13567-13569)CGC>CGG	p.R4523R	PLEC_uc003zab.1_Silent_p.R4386R|PLEC_uc003zac.1_Silent_p.R4390R|PLEC_uc003zad.2_Silent_p.R4386R|PLEC_uc003zae.1_Silent_p.R4354R|PLEC_uc003zag.1_Silent_p.R4364R|PLEC_uc003zah.2_Silent_p.R4372R|PLEC_uc003zaj.2_Silent_p.R4413R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4523	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTCCAGGAAGCGCTGGCCGG	0.701													C	144990831	G	C	144990831	2	2	178	1	0	0	0	0	0	0	0	1	12052	958	34	5		5	PLEC	8	144990831	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	327399	144990831	1373191	349	95903											
PLEC	5339	broad.mit.edu	37	chr8	145003686	145003686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggcctccagctgcagccGgatgtctttgagctcggaga	13	12	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:145003686G>A	uc003zaf.1	-	24	3558	c.3388C>T	c.(3388-3390)CGG>TGG	p.R1130W	PLEC_uc003zab.1_Missense_Mutation_p.R993W|PLEC_uc003zac.1_Missense_Mutation_p.R997W|PLEC_uc003zad.2_Missense_Mutation_p.R993W|PLEC_uc003zae.1_Missense_Mutation_p.R961W|PLEC_uc003zag.1_Missense_Mutation_p.R971W|PLEC_uc003zah.2_Missense_Mutation_p.R979W|PLEC_uc003zaj.2_Missense_Mutation_p.R1020W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1130	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCTGCAGCCGGATGTCTTTG	0.677													A	145003686	G	A	145003686	3	1	178	1	0	0	0	0	1	0	0	0	12052	1115	39	1	10702	1	PLEC	8	145003686	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	12855	145003686	1360336	350	95904											
CPSF1	29894	broad.mit.edu	37	chr8	145620377	145620377	+	Frame_Shift_Del	DEL	G	G	-													gatggagaaggcctcctgctGggggtggatgtaccgctcat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:145620376_145620376TG>T	uc003zcj.3	-	28	3284	c.3209_3209CA>A	c.(3208-3210)cagfs	p.Q1070fs	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1070					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			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)			GGCCTCCTGCTGGGGGTGGAT	0.642													-	145620377	G	-	145620377	7	5	178	1	0	1	0	1	0	0	0	0	3824	1357	47	0	1163	0	CPSF1	8	145620377	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	616691	145620377	743645	351	95905											
LRRC14	9684	broad.mit.edu	37	chr8	145746833	145746833	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccacggacatctacgggCgactggctgcggactacttc	13	13	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr8:145746833C>T	uc003zdk.1	+	4	1599	c.1453C>T	c.(1453-1455)CGA>TGA	p.R485*	LRRC14_uc003zdl.1_Nonsense_Mutation_p.R485*|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	485											0	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)			CATCTACGGGCGACTGGCTGC	0.587													T	145746833	C	T	145746833	4	4	178	1	0	0	0	0	0	1	0	0	8968	760	27	1	1463	1	LRRC14	8	145746833	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	126456	145746833	617189	352	95906											
MPDZ	8777	broad.mit.edu	37	chr9	13168535	13168535	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaacgatcatccccaaGccatctttattagcactaac	4	14	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:13168535G>T	uc010mia.1	-	21	3141	c.3084C>A	c.(3082-3084)GGC>GGA	p.G1028G	MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Silent_p.G1028G|MPDZ_uc010mhz.2_Silent_p.G1028G|MPDZ_uc011lmn.1_Silent_p.G1028G|MPDZ_uc003zlb.3_Silent_p.G1028G	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1028	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TCATCCCCAAGCCATCTTTAT	0.328													T	13168535	G	T	13168535	2	4	178	1	0	0	0	0	0	0	0	1	9722	958	34	5		5	MPDZ	9	13168535	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08		13168535	128044896	353	95907											
CNTLN	54875	broad.mit.edu	37	chr9	17332676	17332676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaagagctacagaagcTgagaaaagctgaaagaaaga	11	6	1	7			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:17332676T>C	uc003zmz.2	+	10	1618	c.1592T>C	c.(1591-1593)CTG>CCG	p.L531P	CNTLN_uc003zmy.2_Missense_Mutation_p.L531P|CNTLN_uc010mio.2_Missense_Mutation_p.L210P	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	531						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CTACAGAAGCTGAGAAAAGCT	0.378													C	17332676	T	C	17332676	3	2	178	1	0	0	0	0	1	0	0	0	3639	1580	55	3	1660	3	CNTLN	9	17332676	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	4164141	17332676	123880755	354	95908											
NOL6	65083	broad.mit.edu	37	chr9	33466944	33466944	+	Frame_Shift_Del	DEL	C	C	-													ggataagtgcatccagggggCcccccacatagtggacacag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:33466943_33466943GC>G	uc003zsz.3	-	14	2018	c.1917_1917GC>C	c.(1915-1917)ggcfs	p.G639fs	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Frame_Shift_Del_p.G639fs|NOL6_uc010mjv.3_Frame_Shift_Del_p.G636fs|NOL6_uc011lob.2_Frame_Shift_Del_p.G587fs|NOL6_uc003ztb.1_Frame_Shift_Del_p.G639fs	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	639					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)		CATCCAGGGGGCCCCCCACAT	0.517											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	33466944	C	-	33466944	7	5	178	1	0	1	0	1	0	0	0	0	10525	739	26	0	1572	0	NOL6	9	33466944	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	16134268	33466944	107746487	355	95909											
UNC13B	10497	broad.mit.edu	37	chr9	35295726	35295726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatagtgccgtcgatgaccGagatagtgactatcgcagtg	13	8	0	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:35295726G>A	uc003zwq.2	+	8	852	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	UNC13B_uc010mkl.1_Missense_Mutation_p.R187Q|UNC13B_uc003zwr.2_Missense_Mutation_p.R187Q	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	187					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTCGATGACCGAGATAGTGAC	0.483													A	35295726	G	A	35295726	3	1	178	1	0	0	0	0	1	0	0	0	16982	1058	37	1	590	1	UNC13B	9	35295726	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1828782	35295726	105917705	356	95910											
TESK1	7016	broad.mit.edu	37	chr9	35609504	35609504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcggcagccctggagcGgacagaaccctcgccacccc	13	19	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:35609504G>A	uc003zxa.2	+	10	1982	c.1646G>A	c.(1645-1647)CGG>CAG	p.R549Q	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.R389Q	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	549					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCTGGAGCGGACAGAACCC	0.697													A	35609504	G	A	35609504	3	1	178	1	0	0	0	0	1	0	0	0	15764	1116	39	1	1684	1	TESK1	9	35609504	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	313778	35609504	105603927	357	95911											
ALDH1B1	219	broad.mit.edu	37	chr9	38395794	38395794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcctccagggcaggaccGcccgctactcctcggcagca	11	17	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:38395794G>A	uc004aay.2	+	2	161	c.49G>A	c.(49-51)GCC>ACC	p.A17T		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	17					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGGCAGGACCGCCCGCTACTC	0.587													A	38395794	G	A	38395794	3	1	178	1	0	0	0	0	1	0	0	0	493	1087	38	1	51	1	ALDH1B1	9	38395794	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2786290	38395794	102817637	358	95912											
AGTPBP1	23287	broad.mit.edu	37	chr9	88247586	88247586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcaactcacctttgtacaCcataaggcctttctaaaata	4	11	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:88247586C>A	uc011ltd.1	-	13	2039	c.2006G>T	c.(2005-2007)GGT>GTT	p.G669V	AGTPBP1_uc004aod.3_Missense_Mutation_p.G295V|AGTPBP1_uc011ltc.1_Missense_Mutation_p.G567V|AGTPBP1_uc010mqc.2_Missense_Mutation_p.G629V|AGTPBP1_uc011lte.1_Missense_Mutation_p.G681V	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	669					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			ovary(4)|large_intestine(2)|skin(1)	7						CCTTTGTACACCATAAGGCCT	0.383													A	88247586	C	A	88247586	3	1	178	1	0	0	0	0	1	0	0	0	400	507	18	5	1726	5	AGTPBP1	9	88247586	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	49851792	88247586	52965845	359	95913											
TSTD2	158427	broad.mit.edu	37	chr9	100367776	100367776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggctcaccttggctttgaGgtaggctgaaccccgctcac	12	13	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:100367776G>T	uc004axn.2	-	8	1590	c.1102C>A	c.(1102-1104)CTC>ATC	p.L368I	TSTD2_uc004axo.2_Missense_Mutation_p.L142I|TSTD2_uc004axp.1_Missense_Mutation_p.L142I	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	368	Rhodanese.									ovary(2)	2						TTGGCTTTGAGGTAGGCTGAA	0.582													T	100367776	G	T	100367776	3	4	178	1	0	0	0	0	1	0	0	0	16672	1000	35	5	460	5	TSTD2	9	100367776	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	12120190	100367776	40845655	360	95914											
CORO2A	7464	broad.mit.edu	37	chr9	100892136	100892136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagctcaggtgaggcttgtCggcgctcacctcgtagtagc	14	11	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:100892136C>T	uc004ayl.2	-	8	1173	c.907G>A	c.(907-909)GAC>AAC	p.D303N	CORO2A_uc004aym.2_Missense_Mutation_p.D303N|CORO2A_uc004ayk.2_5'Flank	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	303	WD 5.				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				TGAGGCTTGTCGGCGCTCACC	0.398													T	100892136	C	T	100892136	3	4	178	1	0	0	0	0	1	0	0	0	3756	884	31	1	690	1	CORO2A	9	100892136	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	524360	100892136	40321295	361	95915											
TBC1D2	55357	broad.mit.edu	37	chr9	101014129	101014129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaggggtggcaggaggtGccggcgggctgttgtggaat	20	7	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:101014129G>A	uc011lvb.1	-	2	629	c.449C>T	c.(448-450)GCA>GTA	p.A150V	TBC1D2_uc004ayq.2_Missense_Mutation_p.A150V|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A150V	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	150	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GGCAGGAGGTGCCGGCGGGCT	0.637													A	101014129	G	A	101014129	3	1	178	1	0	0	0	0	1	0	0	0	15605	1319	46	2	2352	2	TBC1D2	9	101014129	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	121993	101014129	40199302	362	95916											
ACTL7B	10880	broad.mit.edu	37	chr9	111617137	111617137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggcagaggaggctcagCtccctctggaagcgctcggg	17	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:111617137C>T	uc004bdi.2	-	1	1139	c.1074G>A	c.(1072-1074)GAG>GAA	p.E358E		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	358						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GGAGGCTCAGCTCCCTCTGGA	0.672													T	111617137	C	T	111617137	2	4	178	1	0	0	0	0	0	0	0	1	201	796	28	2		2	ACTL7B	9	111617137	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	10603008	111617137	29596294	363	95917											
DFNB31	25861	broad.mit.edu	37	chr9	117168749	117168749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctgggtggccagaggGtgatgggggcagaaggcagc	21	7	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:117168749G>A	uc004biz.3	-	9	2771	c.2122C>T	c.(2122-2124)CCC>TCC	p.P708S	DFNB31_uc004bix.2_Missense_Mutation_p.P357S|DFNB31_uc004biy.3_Missense_Mutation_p.P325S|DFNB31_uc004bja.3_Missense_Mutation_p.P708S	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	708	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TGGCCAGAGGGTGATGGGGGC	0.652													A	117168749	G	A	117168749	3	1	178	1	0	0	0	0	1	0	0	0	4455	1261	44	4	617	4	DFNB31	9	117168749	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5551612	117168749	24044682	364	95918											
PAPPA	5069	broad.mit.edu	37	chr9	118974189	118974189	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttcaacactccttaCaacaacttcatgagctatgc	4	13	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:118974189C>G	uc004bjn.2	+	4	2277	c.1896C>G	c.(1894-1896)TAC>TAG	p.Y632*	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	632					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						ACACTCCTTACAACAACTTCA	0.512													G	118974189	C	G	118974189	4	3	178	1	0	0	0	0	0	1	0	0	11432	489	17	5	1910	5	PAPPA	9	118974189	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1805440	118974189	22239242	365	95919											
DBC1	1620	broad.mit.edu	37	chr9	121929790	121929790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagccgagtccgactacGtaggtagatgtggaccgtct	14	9	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:121929790G>A	uc004bkc.2	-	8	2314	c.1858C>T	c.(1858-1860)CGT>TGT	p.R620C		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	620					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GTCCGACTACGTAGGTAGATG	0.537													A	121929790	G	A	121929790	3	1	178	1	0	0	0	0	1	0	0	0	4247	1145	40	1	431	1	DBC1	9	121929790	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2955601	121929790	19283641	366	95920											
OR5C1	392391	broad.mit.edu	37	chr9	125552005	125552005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcattttcatgtacctgcGccccagctccagctatgccc	6	17	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:125552005G>A	uc011lzd.1	+	1	794	c.794G>A	c.(793-795)CGC>CAC	p.R265H		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ATGTACCTGCGCCCCAGCTCC	0.592													A	125552005	G	A	125552005	3	1	178	1	0	0	0	0	1	0	0	0	11153	1087	38	1	796	1	OR5C1	9	125552005	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3622215	125552005	15661426	367	95921											
LMX1B	4010	broad.mit.edu	37	chr9	129377719	129377719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggcccatctccgaccGcttcctgatgcgagtcaacg	10	17	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:129377719G>T	uc004bqj.2	+	2	178	c.128G>T	c.(127-129)CGC>CTC	p.R43L	LMX1B_uc004bqi.2_Missense_Mutation_p.R43L|LMX1B_uc011maa.1_Missense_Mutation_p.R43L	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	43	LIM zinc-binding 1.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATCTCCGACCGCTTCCTGATG	0.692									Nail-Patella_Syndrome				T	129377719	G	T	129377719	3	4	178	1	0	0	0	0	1	0	0	0	8862	1087	38	5	203	5	LMX1B	9	129377719	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3825714	129377719	11835712	368	95922											
LMX1B	4010	broad.mit.edu	37	chr9	129458217	129458217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacagagcccctacggcaGcagcgaccccttccagcagg	12	16	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:129458217G>A	uc004bqj.2	+	7	967	c.917G>A	c.(916-918)AGC>AAC	p.S306N	LMX1B_uc004bqi.2_Missense_Mutation_p.S306N|LMX1B_uc011maa.1_Missense_Mutation_p.S317N	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	306					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCCTACGGCAGCAGCGACCCC	0.672									Nail-Patella_Syndrome				A	129458217	G	A	129458217	3	1	178	1	0	0	0	0	1	0	0	0	8862	971	34	2	1045	2	LMX1B	9	129458217	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	80498	129458217	11755214	369	95923											
TOR2A	27433	broad.mit.edu	37	chr9	130495689	130495689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgaagatggctttgcGgtaattggtcccgtatacca	12	7	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:130495689G>A	uc004brs.3	-	3	623	c.568C>T	c.(568-570)CGC>TGC	p.R190C	TOR2A_uc004brt.3_Missense_Mutation_p.R190C|TOR2A_uc004brw.3_Missense_Mutation_p.R190C|TOR2A_uc011maj.1_3'UTR|TOR2A_uc004bru.3_Missense_Mutation_p.R28C|TOR2A_uc004brv.3_RNA|TOR2A_uc004brx.1_Missense_Mutation_p.R28C	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	190					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						ATGGCTTTGCGGTAATTGGTC	0.587													A	130495689	G	A	130495689	3	1	178	1	0	0	0	0	1	0	0	0	16372	1116	39	1	578	1	TOR2A	9	130495689	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1037472	130495689	10717742	370	95924											
SH3GLB2	56904	broad.mit.edu	37	chr9	131771011	131771011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccttgcccttcttgttGcctctctcgccaatgagcca	9	15	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:131771011G>A	uc004bwv.2	-	11	1286	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	SH3GLB2_uc004bww.2_Silent_p.G389G|SH3GLB2_uc004bwx.1_Silent_p.G380G|SH3GLB2_uc011mbm.1_Silent_p.G389G	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	380	SH3.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						CCTTCTTGTTGCCTCTCTCGC	0.612											OREG0003926	type=REGULATORY REGION|Gene=SH3GLB2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	131771011	G	A	131771011	2	1	178	1	0	0	0	0	0	0	0	1	14254	1306	46	2		2	SH3GLB2	9	131771011	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1275322	131771011	9442420	371	95925											
C9orf78	51759	broad.mit.edu	37	chr9	132591762	132591762	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcttcttgttctgctGctctgccagcagacgggcct	10	13	5	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:132591762G>A	uc004byp.2	-	7	673	c.601C>T	c.(601-603)CAG>TAG	p.Q201*	C9orf78_uc004byo.2_Nonsense_Mutation_p.Q126*|C9orf78_uc004byq.1_Nonsense_Mutation_p.Q147*	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	201											0		Ovarian(14;0.00556)				TTGTTCTGCTGCTCTGCCAGC	0.478													A	132591762	G	A	132591762	4	1	178	1	0	0	0	0	0	1	0	0	2496	1328	46	2	280	2	C9orf78	9	132591762	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	820751	132591762	8621669	372	95926											
COL5A1	1289	broad.mit.edu	37	chr9	137642390	137642390	+	Splice_Site	DEL	C	C	-													ttggccccttgtcttcagggCccccctggacgcccaggcct							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:137642389_137642389GC>G	uc004cfe.3	+	12	1877	c.1495_splice	c.e12-1	p.G499_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	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			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)		TGTCTTCAGGGCCCCCCTGGA	0.662													-	137642390	C	-	137642390	8	5	178	1	0	1	0	1	0	0	1	0	3696	726	26	0	1543	0	COL5A1	9	137642390	Splice_Site	DEL	C	TCGA-CG-4465-01A-01D-1158-08	5050628	137642390	3571041	373	95927											
COL5A1	1289	broad.mit.edu	37	chr9	137681048	137681048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccaatggagagaagggCggcagggtaaggatagcctg	19	7	0	1	rs139394549		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:137681048C>T	uc004cfe.2	+	32	3076	c.2694C>T	c.(2692-2694)GGC>GGT	p.G898G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	898	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GAGAGAAGGGCGGCAGGGTAA	0.572													T	137681048	C	T	137681048	2	4	178	1	0	0	0	0	0	0	0	1	3696	755	27	1		1	COL5A1	9	137681048	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	38658	137681048	3532383	374	95928											
FBXW5	54461	broad.mit.edu	37	chr9	139836005	139836005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgttgtcgggcgacaGgcccatgccgatgatgtgtc	13	13	0	1	rs139795863	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:139836005G>T	uc004cjx.2	-	7	1379	c.1228C>A	c.(1228-1230)CTG>ATG	p.L410M	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.L158M|FBXW5_uc004cjz.2_Missense_Mutation_p.L140M	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	410							catalytic activity|protein binding				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TCGGGCGACAGGCCCATGCCG	0.682													T	139836005	G	T	139836005	3	4	178	1	0	0	0	0	1	0	0	0	5768	991	35	5	484	5	FBXW5	9	139836005	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2154957	139836005	1377426	375	95929											
COBRA1	25920	broad.mit.edu	37	chr9	140161524	140161524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatatccaaacacacttccCgaaagcttcactaagtacgg	5	13	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:140161524C>T	uc004cmm.3	+	9	1427	c.1224C>T	c.(1222-1224)CCC>CCT	p.P408P		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	408					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		ACACACTTCCCGAAAGCTTCA	0.582													T	140161524	C	T	140161524	2	4	178	1	0	0	0	0	0	0	0	1	3655	639	23	1		1	COBRA1	9	140161524	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	325519	140161524	1051907	376	95930											
C9orf167	54863	broad.mit.edu	37	chr9	140173182	140173182	+	Frame_Shift_Del	DEL	C	C	-													cctggagcctgctgccgcggCcccccgagcctcgggccggt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:140173182delC	uc004cmn.2	+	2	158	c.41delC	c.(40-42)GCCfs	p.A14fs	C9orf167_uc011mew.1_5'Flank	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	hypothetical protein LOC54863	14					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity			pancreas(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)		GCTGCCGCGGCCCCCCGAGCC	0.751													-	140173182	C	-	140173182	7	5	178	1	0	1	0	1	0	0	0	0	2468	739	26	0	43	0	C9orf167	9	140173182	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	11658	140173182	1040249	377	95931											
WDR85	92715	broad.mit.edu	37	chr9	140449886	140449886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctggggtctggcatgGccctccccatcgttatcctc	9	17	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr9:140449886G>A	uc004cnk.1	-	9	1322	c.1164C>T	c.(1162-1164)GGC>GGT	p.G388G	WDR85_uc004cnj.1_Silent_p.G117G|WDR85_uc004cnl.1_Silent_p.G212G|WDR85_uc004cnm.1_Silent_p.G149G|WDR85_uc004cnn.1_Silent_p.G117G|WDR85_uc004cni.2_RNA	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	388					peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		GTCTGGCATGGCCCTCCCCAT	0.577													A	140449886	G	A	140449886	2	1	178	1	0	0	0	0	0	0	0	1	17330	1190	42	2		2	WDR85	9	140449886	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	276704	140449886	763545	378	95932											
ANKRD16	54522	broad.mit.edu	37	chr10	5920141	5920141	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggacatctgctctcctTgggagctgctgagccagggt	14	10	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:5920141T>C	uc010qat.1	-	7	1581	c.1038A>G	c.(1036-1038)CCA>CCG	p.P346P	ANKRD16_uc009xie.2_Intron|ANKRD16_uc009xif.2_Silent_p.P346P|ANKRD16_uc001iiq.2_3'UTR	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16 isoform a	346											0						CTGCTCTCCTTGGGAGCTGCT	0.532													C	5920141	T	C	5920141	2	2	178	1	0	0	0	0	0	0	0	1	645	1799	63	3		3	ANKRD16	10	5920141	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08		5920141	129614606	379	95933											
OPTN	10133	broad.mit.edu	37	chr10	13169777	13169777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagggcagtgctgaaggaActgagtgaaaaactggaact	14	6	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:13169777A>G	uc001ilu.1	+	13	1713	c.1275A>G	c.(1273-1275)GAA>GAG	p.E425E	OPTN_uc001ilv.1_Silent_p.E425E|OPTN_uc001ilw.1_Silent_p.E425E|OPTN_uc001ilx.1_Silent_p.E425E|OPTN_uc001ily.1_Silent_p.E419E|OPTN_uc010qbr.1_Silent_p.E368E|OPTN_uc001ilz.1_Silent_p.E419E	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	425	Potential.|Interaction with MYO6.|Interaction with HD.				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			ovary(2)	2						TGCTGAAGGAACTGAGTGAAA	0.403													G	13169777	A	G	13169777	2	3	178	1	0	0	0	0	0	0	0	1	10889	40	2	3		3	OPTN	10	13169777	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	7249636	13169777	122364970	380	95934											
VIM	7431	broad.mit.edu	37	chr10	17271880	17271880	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggacctctacgaggaggaGatgcgggagctgcgccggca	19	10	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:17271880G>A	uc001iou.2	+	2	872	c.459G>A	c.(457-459)GAG>GAA	p.E153E	uc001iot.1_RNA|VIM_uc001iov.1_Silent_p.E153E|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.E153E|VIM_uc001ioy.1_Silent_p.E153E|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.E153E|VIM_uc001ipc.1_Silent_p.E153E	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	153	Rod.|Linker 1.				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			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACGAGGAGGAGATGCGGGAGC	0.657													A	17271880	G	A	17271880	2	1	178	1	0	0	0	0	0	0	0	1	17163	933	33	4		4	VIM	10	17271880	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4102103	17271880	118262867	381	95935											
MLLT10	8028	broad.mit.edu	37	chr10	22022455	22022455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactactgattccttgaaCagcagtaagagccctcatat	6	12	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:22022455C>T	uc001iqs.2	+	20	2826	c.2478C>T	c.(2476-2478)AAC>AAT	p.N826N	MLLT10_uc001iqt.2_Silent_p.N810N|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.N810N|MLLT10_uc001ira.2_Silent_p.N267N|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	826					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			lung(1)|skin(1)	2						ATTCCTTGAACAGCAGTAAGA	0.294			T	MLL|PICALM|CDK6	AL								T	22022455	C	T	22022455	2	4	178	1	0	0	0	0	0	0	0	1	9626	477	17	4		4	MLLT10	10	22022455	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4750575	22022455	113512292	382	95936											
PTCHD3	374308	broad.mit.edu	37	chr10	27702585	27702585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtgctcctcctggaggCggagaagcggtaggagtcgt	17	9	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:27702585C>T	uc001itu.2	-	1	713	c.595G>A	c.(595-597)GCC>ACC	p.A199T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	199					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CTCCTGGAGGCGGAGAAGCGG	0.602													T	27702585	C	T	27702585	3	4	178	1	0	0	0	0	1	0	0	0	12734	768	27	1	1724	1	PTCHD3	10	27702585	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5680130	27702585	107832162	383	95937											
SVIL	6840	broad.mit.edu	37	chr10	29777649	29777649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttactggctaaacccGccagggtgacttctgagaag	10	10	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:29777649G>A	uc001iut.1	-	23	4982	c.4229C>T	c.(4228-4230)GCG>GTG	p.A1410V	SVIL_uc010qdw.1_Missense_Mutation_p.A324V|SVIL_uc001iuu.1_Missense_Mutation_p.A984V|SVIL_uc009xlc.2_Missense_Mutation_p.A202V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1410					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GGCTAAACCCGCCAGGGTGAC	0.502													A	29777649	G	A	29777649	3	1	178	1	0	0	0	0	1	0	0	0	15418	1087	38	1	2479	1	SVIL	10	29777649	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2075064	29777649	105757098	384	95938											
SVIL	6840	broad.mit.edu	37	chr10	29821472	29821472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacagttcaggtctcctGcaggcgttggcagatgccag	12	12	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:29821472G>A	uc001iut.1	-	8	2577	c.1824C>T	c.(1822-1824)TGC>TGT	p.C608C	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.C608C	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	608					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CAGGTCTCCTGCAGGCGTTGG	0.567													A	29821472	G	A	29821472	2	1	178	1	0	0	0	0	0	0	0	1	15418	1311	46	2		2	SVIL	10	29821472	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	43823	29821472	105713275	385	95939											
SVIL	6840	broad.mit.edu	37	chr10	29840037	29840037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttctgctttgtaccttgCaattctttcggctttggact	7	10	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:29840037C>T	uc001iut.1	-	6	1069	c.316G>A	c.(316-318)GCA>ACA	p.A106T	SVIL_uc001iuu.1_Missense_Mutation_p.A106T|SVIL_uc009xld.1_Missense_Mutation_p.A106T	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	106	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TTGTACCTTGCAATTCTTTCG	0.527													T	29840037	C	T	29840037	3	4	178	1	0	0	0	0	1	0	0	0	15418	710	25	2	6460	2	SVIL	10	29840037	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	18565	29840037	105694710	386	95940											
MTPAP	55149	broad.mit.edu	37	chr10	30630507	30630507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattaaaacagtccgctgtgCctgttctcgtctttcatttt	6	10	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:30630507C>T	uc001iva.3	-	2	283	c.220G>A	c.(220-222)GCA>ACA	p.A74T	MTPAP_uc001ivb.3_Missense_Mutation_p.A204T|MTPAP_uc001ivc.2_Missense_Mutation_p.A74T	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	74					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			ovary(1)	1						GTCCGCTGTGCCTGTTCTCGT	0.368													T	30630507	C	T	30630507	3	4	178	1	0	0	0	0	1	0	0	0	9956	739	26	2	1560	2	MTPAP	10	30630507	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	790470	30630507	104904240	387	95941											
ZEB1	6935	broad.mit.edu	37	chr10	31791274	31791274	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtatgcattttttttAgtaaaagatgatgaatgcga	8	2	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:31791274A>G	uc001ivs.3	+	4	383	c.320_splice	c.e4-2	p.V107_splice	ZEB1_uc001ivr.3_Splice_Site|ZEB1_uc010qee.1_Splice_Site|ZEB1_uc010qef.1_Splice_Site|ZEB1_uc009xlh.1_Splice_Site|ZEB1_uc009xli.1_Splice_Site|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_Splice_Site|ZEB1_uc001ivt.3_Splice_Site|ZEB1_uc001ivu.3_Splice_Site_p.V108_splice|ZEB1_uc001ivv.3_Splice_Site_p.I87_splice|ZEB1_uc010qeh.1_Splice_Site_p.V40_splice|ZEB1_uc009xll.2_Splice_Site|ZEB1_uc009xlm.1_Splice_Site|ZEB1_uc009xln.1_Splice_Site|ZEB1_uc009xlo.1_Splice_Site_p.V90_splice|ZEB1_uc009xlp.2_Splice_Site_p.V91_splice	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b						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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CATTTTTTTTAGTAAAAGATG	0.308													G	31791274	A	G	31791274	5	3	178	1	0	0	0	0	0	0	1	0	17620	434	15	3	346	3	ZEB1	10	31791274	Splice_Site	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1160767	31791274	103743473	388	95942											
ITGB1	3688	broad.mit.edu	37	chr10	33214797	33214797	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataggaaatgaatgcgcttActccacaaactgcaacttgc	8	10	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:33214797A>G	uc001iws.3	-	6	922	c.786_splice	c.e6+1	p.G262_splice	ITGB1_uc001iwp.3_Splice_Site_p.G262_splice|ITGB1_uc001iwq.3_Splice_Site_p.G262_splice|ITGB1_uc001iwr.3_Splice_Site_p.G262_splice|ITGB1_uc001iwt.3_Splice_Site_p.G262_splice|ITGB1_uc001iwu.1_Splice_Site_p.G262_splice	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor						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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GAATGCGCTTACTCCACAAAC	0.343													G	33214797	A	G	33214797	5	3	178	1	0	0	0	0	0	0	1	0	7890	405	14	3	1890	3	ITGB1	10	33214797	Splice_Site	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1423523	33214797	102319950	389	95943											
C10orf71	118461	broad.mit.edu	37	chr10	50530938	50530938	+	Frame_Shift_Del	DEL	C	C	-													gaaaagtaccccaaaaccagCcccccaccaacgccagtcca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:50530937_50530937GC>G	uc021pqb.1	+	0	347	c.347_347GC>G	c.(346-348)agcfs	p.S116fs	C10orf71_uc021pqa.1_Frame_Shift_Del_p.S115fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.S116fs	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	116										endometrium(1)	1						CCCAAAACCAGCCCCCCACCA	0.547													-	50530938	C	-	50530938	7	5	178	1	0	1	0	1	0	0	0	0	1614	738	26	0	350	0	C10orf71	10	50530938	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	17316141	50530938	85003809	390	95944											
ANK3	288	broad.mit.edu	37	chr10	61868606	61868606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctaaaaattgtgcccctGcaggacccatttctaccagc	6	15	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:61868606G>A	uc001jky.2	-	27	3347	c.3155C>T	c.(3154-3156)GCA>GTA	p.A1052V	ANK3_uc001jkw.2_Missense_Mutation_p.A186V|ANK3_uc009xpa.2_Missense_Mutation_p.A186V|ANK3_uc001jkx.2_Missense_Mutation_p.A230V|ANK3_uc010qih.1_Missense_Mutation_p.A1053V|ANK3_uc001jkz.3_Missense_Mutation_p.A1046V|ANK3_uc001jla.1_Missense_Mutation_p.A118V|ANK3_uc001jlb.1_Missense_Mutation_p.A570V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1052	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTGTGCCCCTGCAGGACCCAT	0.458													A	61868606	G	A	61868606	3	1	178	1	0	0	0	0	1	0	0	0	622	1319	46	2	10359	2	ANK3	10	61868606	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	11337668	61868606	73666141	391	95945											
JMJD1C	221037	broad.mit.edu	37	chr10	64954095	64954095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtttgtgatcatgaggCtgtcccttcacacacttcat	7	10	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:64954095C>T	uc001jmn.2	-	14	5985	c.5685G>A	c.(5683-5685)CAG>CAA	p.Q1895Q	JMJD1C_uc001jml.2_Silent_p.Q1676Q|JMJD1C_uc001jmm.2_Silent_p.Q1607Q|JMJD1C_uc010qiq.1_Silent_p.Q1713Q|JMJD1C_uc009xpi.2_Silent_p.Q1713Q|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.Q793Q	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1895					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATCATGAGGCTGTCCCTTCA	0.333													T	64954095	C	T	64954095	2	4	178	1	0	0	0	0	0	0	0	1	7950	796	28	2		2	JMJD1C	10	64954095	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3085489	64954095	70580652	392	95946											
NODAL	4838	broad.mit.edu	37	chr10	72195099	72195099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaggattaggacactcGccctcacagcgataggcgtt	10	13	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:72195099G>A	uc001jrc.2	-	2	876	c.834C>T	c.(832-834)GGC>GGT	p.G278G		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	nodal precursor	278					growth	extracellular space	cytokine activity|growth factor activity			large_intestine(1)|kidney(1)	2						TAGGACACTCGCCCTCACAGC	0.572													A	72195099	G	A	72195099	2	1	178	1	0	0	0	0	0	0	0	1	10518	1074	38	1		1	NODAL	10	72195099	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	7241004	72195099	63339648	393	95947											
PRF1	5551	broad.mit.edu	37	chr10	72358611	72358611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtttggtggaaggaggccGtcatcttgtgcttcttcttc	13	8	4	0	rs150628656	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:72358611G>A	uc009xqg.2	-	3	1027	c.866C>T	c.(865-867)ACG>ATG	p.T289M	PRF1_uc001jrf.3_Missense_Mutation_p.T289M	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	289	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GAAGGAGGCCGTCATCTTGTG	0.607			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				A	72358611	G	A	72358611	3	1	178	1	0	0	0	0	1	0	0	0	12478	1145	40	1	805	1	PRF1	10	72358611	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	163512	72358611	63176136	394	95948											
UNC5B	219699	broad.mit.edu	37	chr10	73046593	73046593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaacatcgtggccaaaCgccggagcaccactgccacc	9	17	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:73046593C>T	uc001jro.2	+	5	1145	c.700C>T	c.(700-702)CGC>TGC	p.R234C	UNC5B_uc001jrp.2_Missense_Mutation_p.R234C	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	234	Ig-like C2-type.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CGTGGCCAAACGCCGGAGCAC	0.637													T	73046593	C	T	73046593	3	4	178	1	0	0	0	0	1	0	0	0	16989	536	19	1	718	1	UNC5B	10	73046593	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	687982	73046593	62488154	395	95949											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406786	75406786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttttgggggaccctgagGcgatagggccaggagtcggg	19	8	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:75406786G>T	uc001jut.3	-	4	2776	c.2624C>A	c.(2623-2625)GCC>GAC	p.A875D	SYNPO2L_uc001jus.3_Missense_Mutation_p.A651D	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	875	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					GGACCCTGAGGCGATAGGGCC	0.577													T	75406786	G	T	75406786	3	4	178	1	0	0	0	0	1	0	0	0	15455	1203	42	5	313	5	SYNPO2L	10	75406786	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2360193	75406786	60127961	396	95950											
DLG5	9231	broad.mit.edu	37	chr10	79554615	79554615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagttacctacttgatgtgCttggcgctcttgtagtggat	11	9	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:79554615C>A	uc001jzk.2	-	30	5608	c.5538G>T	c.(5536-5538)AAG>AAT	p.K1846N	DLG5_uc001jzi.2_Missense_Mutation_p.K601N|DLG5_uc001jzj.2_Missense_Mutation_p.K1261N	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1846	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	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)			ACTTGATGTGCTTGGCGCTCT	0.607													A	79554615	C	A	79554615	3	1	178	1	0	0	0	0	1	0	0	0	4558	796	28	5	233	5	DLG5	10	79554615	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4147829	79554615	55980132	397	95951											
LRIT2	340745	broad.mit.edu	37	chr10	85981859	85981859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacccacttgctgcagctGcaggggccctgggctgccca	14	15	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:85981859G>A	uc001kcy.2	-	3	1478	c.1470C>T	c.(1468-1470)TGC>TGT	p.C490C	LRIT2_uc010qmc.1_Silent_p.C500C	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	490						integral to membrane				ovary(2)	2						TGCTGCAGCTGCAGGGGCCCT	0.642													A	85981859	G	A	85981859	2	1	178	1	0	0	0	0	0	0	0	1	8948	1311	46	2		2	LRIT2	10	85981859	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	6427244	85981859	49552888	398	95952											
GRID1	2894	broad.mit.edu	37	chr10	87482810	87482810	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggcagcaaggttggcTgtgtaggaggagcacacaat	16	6	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:87482810T>C	uc001kdl.1	-	12	2048	c.1947A>G	c.(1945-1947)ACA>ACG	p.T649T	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.T220T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	649	Helical; (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CAAGGTTGGCTGTGTAGGAGG	0.562										Multiple Myeloma(13;0.14)			C	87482810	T	C	87482810	2	2	178	1	0	0	0	0	0	0	0	1	6771	1567	55	3		3	GRID1	10	87482810	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1500951	87482810	48051937	399	95953											
STAMBPL1	57559	broad.mit.edu	37	chr10	90682161	90682161	+	Frame_Shift_Del	DEL	C	C	-													cttgtaaaaaaaagggctttCatccacacaccaaggagccc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:90682160_90682160TC>T	uc001kfk.3	+	9	1644	c.1221_1221TC>T	c.(1219-1221)tttfs	p.F407fs	STAMBPL1_uc010qmx.1_Frame_Shift_Del_p.F407fs|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Frame_Shift_Del_p.F407fs|STAMBPL1_uc001kfn.3_Frame_Shift_Del_p.F241fs	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	407							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AAAAGGGCTTTCATCCACACA	0.408													-	90682161	C	-	90682161	7	5	178	1	0	1	0	1	0	0	0	0	15250	826	29	0	1256	0	STAMBPL1	10	90682161	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	3199351	90682161	44852586	400	95954											
BTAF1	9044	broad.mit.edu	37	chr10	93784638	93784638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatatagtagagcatgaTctcctcaaacctcacttgcc	6	12	3	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:93784638T>C	uc001khr.2	+	35	5087	c.4989T>C	c.(4987-4989)GAT>GAC	p.D1663D		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1663	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TAGAGCATGATCTCCTCAAAC	0.478													C	93784638	T	C	93784638	2	2	178	1	0	0	0	0	0	0	0	1	1536	1432	50	3		3	BTAF1	10	93784638	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	3102477	93784638	41750109	401	95955											
IDE	3416	broad.mit.edu	37	chr10	94297296	94297296	+	Frame_Shift_Del	DEL	T	T	-													tattcattttgctgtaagtcTttttttggaaactgaaaaga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:94297295_94297295CT>C	uc001kia.3	-	1	187	c.111_111AG>G	c.(109-111)aagfs	p.K37fs		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	37					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)	TGCTGTAAGTCTTTTTTTGGA	0.343													-	94297296	T	-	94297296	7	5	178	1	0	1	0	1	0	0	0	0	7493	1609	56	0	3045	0	IDE	10	94297296	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	512658	94297296	41237451	402	95956											
MYOF	26509	broad.mit.edu	37	chr10	95095752	95095752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttgaacgtatctgagaAgtctgtcaggccctcaaatt	8	10	4	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:95095752A>G	uc001kin.2	-	41	4612	c.4489T>C	c.(4489-4491)TTC>CTC	p.F1497L	MYOF_uc001kio.2_Missense_Mutation_p.F1484L|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1497	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						GTATCTGAGAAGTCTGTCAGG	0.403													G	95095752	A	G	95095752	3	3	178	1	0	0	0	0	1	0	0	0	10089	72	3	3	1752	3	MYOF	10	95095752	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	798456	95095752	40438995	403	95957											
C10orf12	26148	broad.mit.edu	37	chr10	98715070	98715070	+	Frame_Shift_Del	DEL	A	A	-													gcagaaaactctgcctttccAaaaatggcacttcaagcaaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:98715069_98715069CA>C	uc001kmu.2	+	7	1255	c.692_692CA>C	c.(691-693)ccafs	p.P231fs	C10orf12_uc001kmr.3_Frame_Shift_Del_p.P231fs|C10orf12_uc001kms.2_Frame_Shift_Del_p.P231fs|C10orf12_uc009xvg.2_Intron|C10orf12_uc021pwp.1_5'Flank	NM_032440	NP_115816	Q8N655	CJ012_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor (LCOR), transcript variant 1, mRNA.	1047										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)		TCTGCCTTTCCAAAAATGGCA	0.423													-	98715070	A	-	98715070	7	5	178	1	0	1	0	1	0	0	0	0	1589	117	5	0		0	C10orf12	10	98715070	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	3619318	98715070	36819677	404	95958											
MORN4	118812	broad.mit.edu	37	chr10	99377076	99377076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaccaaaaccatgcctgCggcctgaacaaagagaagga	11	10	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:99377076C>T	uc001kob.3	-	3	342	c.71G>A	c.(70-72)CGC>CAC	p.R24H	PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Missense_Mutation_p.R82H|MORN4_uc001kod.3_Silent_p.P114P|MORN4_uc001koe.2_Missense_Mutation_p.R24H|uc001kof.1_5'Flank	NM_178832	NP_849154	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	24	MORN 1.										0						ACCATGCCTGCGGCCTGAACA	0.502													T	99377076	C	T	99377076	3	4	178	1	0	0	0	0	1	0	0	0	9710	768	27	1	381	1	MORN4	10	99377076	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	662006	99377076	36157671	405	95959											
GSTO2	119391	broad.mit.edu	37	chr10	106059034	106059034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgcctttgactttgggCtgtgctgagtctcactgtcc	10	11	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:106059034C>T	uc001kyb.2	+	7	1352	c.724C>T	c.(724-726)CTG>TTG	p.L242L	GSTO2_uc010qqx.1_Silent_p.L208L|GSTO2_uc001kyc.2_Silent_p.L214L|GSTO2_uc010qqy.1_3'UTR|uc001kyd.1_5'Flank	NM_183239	NP_899062	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	242					water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGACTTTGGGCTGTGCTGAGT	0.502													T	106059034	C	T	106059034	2	4	178	1	0	0	0	0	0	0	0	1	6843	796	28	2		2	GSTO2	10	106059034	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6681958	106059034	29475713	406	95960											
ATRNL1	26033	broad.mit.edu	37	chr10	117075095	117075095	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgtggctggtgcaaTgatcctagtaatacaggaag	13	7	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:117075095T>C	uc001lcg.2	+	18	3272	c.2886T>C	c.(2884-2886)AAT>AAC	p.N962N	ATRNL1_uc010qsm.1_Silent_p.N137N|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	962	PSI 5.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		GCTGGTGCAATGATCCTAGTA	0.448													C	117075095	T	C	117075095	2	2	178	1	0	0	0	0	0	0	0	1	1207	1461	51	3		3	ATRNL1	10	117075095	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	11016061	117075095	18459652	407	95961											
FGFR2	2263	broad.mit.edu	37	chr10	123244911	123244911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaacagcccttacagTtcgttggtgcagttggctgg	12	9	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:123244911T>C	uc010qtk.1	-	17	2840	c.2193A>G	c.(2191-2193)GAA>GAG	p.E731E	FGFR2_uc010qtg.1_Silent_p.E619E|FGFR2_uc010qth.1_Silent_p.E616E|FGFR2_uc010qti.1_Silent_p.E642E|FGFR2_uc010qtj.1_Silent_p.E732E|FGFR2_uc010qtl.1_Silent_p.E615E|FGFR2_uc010qtm.1_Silent_p.E614E|FGFR2_uc001lfl.3_Silent_p.E732E|FGFR2_uc001lfm.2_Silent_p.E643E|FGFR2_uc001lfg.3_Silent_p.E339E|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	731	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCCCTTACAGTTCGTTGGTGC	0.532		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				C	123244911	T	C	123244911	2	2	178	1	0	0	0	0	0	0	0	1	5866	1722	60	3		3	FGFR2	10	123244911	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	6169816	123244911	12289836	408	95962											
TACC2	10579	broad.mit.edu	37	chr10	123847368	123847368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagggcctgagcgccccAttccagctggggatgggaag	16	12	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:123847368A>G	uc001lfv.2	+	4	5713	c.5353A>G	c.(5353-5355)ATT>GTT	p.I1785V	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.I1785V|TACC2_uc010qtv.1_Missense_Mutation_p.I1785V	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1785						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAGCGCCCCATTCCAGCTGG	0.632													G	123847368	A	G	123847368	3	3	178	1	0	0	0	0	1	0	0	0	15499	217	8	3	5363	3	TACC2	10	123847368	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	602457	123847368	11687379	409	95963											
DMBT1	1755	broad.mit.edu	37	chr10	124337331	124337331	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatttttttctcacagctgcCcagcctcagtcaacactcag	5	14	4	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:124337331C>A	uc001lgk.1	+	8	718	c.612C>A	c.(610-612)GCC>GCA	p.A204A	DMBT1_uc001lgl.1_Silent_p.A204A|DMBT1_uc001lgm.1_Silent_p.A204A|DMBT1_uc009xzz.1_Silent_p.A204A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.A56A	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	204					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCACAGCTGCCCAGCCTCAGT	0.512													A	124337331	C	A	124337331	2	1	178	1	0	0	0	0	0	0	0	1	4577	610	22	5		5	DMBT1	10	124337331	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	489963	124337331	11197416	410	95964											
CPXM2	119587	broad.mit.edu	37	chr10	125601941	125601941	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatccacttcaatccactGctggaggtcatttcttcccg	7	14	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:125601941G>A	uc001lhk.1	-	4	902	c.577C>T	c.(577-579)CAG>TAG	p.Q193*	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	193	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		TCAATCCACTGCTGGAGGTCA	0.493													A	125601941	G	A	125601941	4	1	178	1	0	0	0	0	0	1	0	0	3838	1328	46	2	1737	2	CPXM2	10	125601941	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1264610	125601941	9932806	411	95965											
DOCK1	1793	broad.mit.edu	37	chr10	128926004	128926004	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaccgaaccgtcatttcCatgggacgagattctgaact	10	10	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:128926004C>A	uc001ljt.2	+	27	2824	c.2760C>A	c.(2758-2760)TCC>TCA	p.S920S	DOCK1_uc010qun.1_Silent_p.S941S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	920					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			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		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)		CCGTCATTTCCATGGGACGAG	0.483													A	128926004	C	A	128926004	2	1	178	1	0	0	0	0	0	0	0	1	4684	581	21	5		5	DOCK1	10	128926004	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3324063	128926004	6608743	412	95966											
FAM196A	642938	broad.mit.edu	37	chr10	128974096	128974096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgtgcagttgaccccCaaaggctggtccactgtgtt	12	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:128974096C>A	uc001lju.1	-	1	605	c.564G>T	c.(562-564)TTG>TTT	p.L188F	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.L188F|FAM196A_uc001ljv.1_Missense_Mutation_p.L188F|FAM196A_uc009yap.1_Missense_Mutation_p.L188F	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	188										ovary(2)	2						AGTTGACCCCCAAAGGCTGGT	0.602													A	128974096	C	A	128974096	3	1	178	1	0	0	0	0	1	0	0	0	5528	593	21	5	887	5	FAM196A	10	128974096	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	48092	128974096	6560651	413	95967											
PWWP2B	170394	broad.mit.edu	37	chr10	134218991	134218991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccggcgcggacctgccGccccctaagatccgcctgaa	12	19	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:134218991G>A	uc001lll.3	+	2	1016	c.987G>A	c.(985-987)CCG>CCA	p.P329P	PWWP2B_uc009ybe.2_Silent_p.P329P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	329											0		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)		CGGACCTGCCGCCCCCTAAGA	0.716													A	134218991	G	A	134218991	2	1	178	1	0	0	0	0	0	0	0	1	12846	1074	38	1		1	PWWP2B	10	134218991	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5244895	134218991	1315756	414	95968											
KNDC1	85442	broad.mit.edu	37	chr10	135020777	135020777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttctacaacgtcaacaAgcacccgggcggccggcaga	10	15	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:135020777A>C	uc001llz.1	+	20	3717	c.3716A>C	c.(3715-3717)AAG>ACG	p.K1239T		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1239					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		AACGTCAACAAGCACCCGGGC	0.652													C	135020777	A	C	135020777	3	2	178	1	0	0	0	0	1	0	0	0	8426	72	3	5	3794	5	KNDC1	10	135020777	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	801786	135020777	513970	415	95969											
TUBGCP2	10844	broad.mit.edu	37	chr10	135102440	135102440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctgctccacatacgccCgctcttttaacgtgtagatg	8	13	2	1	rs148597749	by1000genomes	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr10:135102440C>T	uc001lmg.1	-	10	1802	c.1445G>A	c.(1444-1446)CGG>CAG	p.R482Q	TUBGCP2_uc001lmf.1_Missense_Mutation_p.R75Q|TUBGCP2_uc010qvc.1_Missense_Mutation_p.R510Q|TUBGCP2_uc009ybk.1_Missense_Mutation_p.R482Q|TUBGCP2_uc010qvd.1_Missense_Mutation_p.R352Q|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	482					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		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)		CACATACGCCCGCTCTTTTAA	0.507													T	135102440	C	T	135102440	3	4	178	1	0	0	0	0	1	0	0	0	16763	652	23	1	1299	1	TUBGCP2	10	135102440	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	81663	135102440	432307	416	95970											
MRGPRE	116534	broad.mit.edu	37	chr11	3249927	3249927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcagcccaccgaggcCgagcccctcggtgagggaca	13	18	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:3249927C>T	uc001lxq.3	-	2	410	c.100G>A	c.(100-102)GGC>AGC	p.G34S		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	34	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACCGAGGCCGAGCCCCTCG	0.652													T	3249927	C	T	3249927	3	4	178	1	0	0	0	0	1	0	0	0	9764	652	23	1	839	1	MRGPRE	11	3249927	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08		3249927	131756589	417	95971											
OR52B4	143496	broad.mit.edu	37	chr11	4389524	4389524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtggtttacagtaggcAtagctggggagaactttcag	13	7	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:4389524A>G	uc010qye.1	-	1	2	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACAGTAGGCATAGCTGGGGA	0.488													G	4389524	A	G	4389524	3	3	178	1	0	0	0	0	1	0	0	0	11112	217	8	3	946	3	OR52B4	11	4389524	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1139597	4389524	130616992	418	95972											
HBB	3043	broad.mit.edu	37	chr11	5248013	5248013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagaacctctgggtccaagGgtagaccaccagcagcctaa	10	12	1	2	rs33948615		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:5248013G>C	uc001mae.1	-	2	159	c.109C>G	c.(109-111)CCT>GCT	p.P37A		NM_000518	NP_000509	P68871	HBB_HUMAN	beta globin	37			P -> T (in Linkoping/Finlandia; O(2) affinity up).|P -> R (in Sunnybrook).|P -> S (in North Chicago; O(2) affinity up).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)	1		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)	Iron Dextran(DB00893)	TGGGTCCAAGGGTAGACCACC	0.522									Sickle_Cell_Trait				C	5248013	G	C	5248013	3	2	178	1	0	0	0	0	1	0	0	0	6978	1232	43	5	342	5	HBB	11	5248013	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	858489	5248013	129758503	419	95973											
ILK	3611	broad.mit.edu	37	chr11	6630183	6630183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacattctggaaggggaccAcccgcactcggccccgtgag	12	15	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:6630183A>G	uc001mee.2	+	6	652	c.517A>G	c.(517-519)ACC>GCC	p.T173A	ILK_uc001mef.2_Missense_Mutation_p.T173A|ILK_uc010rap.1_Missense_Mutation_p.T39A|ILK_uc010raq.1_Silent_p.P140P|ILK_uc001meg.2_Missense_Mutation_p.T19A|ILK_uc001meh.2_Missense_Mutation_p.T173A|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	173	ANK 5.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GAAGGGGACCACCCGCACTCG	0.537													G	6630183	A	G	6630183	3	3	178	1	0	0	0	0	1	0	0	0	7713	159	6	3	535	3	ILK	11	6630183	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1382170	6630183	128376333	420	95974											
OR10A4	283297	broad.mit.edu	37	chr11	6898607	6898607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcattctccacctgttcCgcccacctcttggttgtctc	7	17	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:6898607C>T	uc010rat.1	+	1	729	c.729C>T	c.(727-729)TCC>TCT	p.S243S		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCACCTGTTCCGCCCACCTCT	0.527													T	6898607	C	T	6898607	2	4	178	1	0	0	0	0	0	0	0	1	10892	639	23	1		1	OR10A4	11	6898607	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	268424	6898607	128107909	421	95975											
DENND5A	23258	broad.mit.edu	37	chr11	9167317	9167317	+	Frame_Shift_Del	DEL	C	C	-													ggttggcagtgaacatggagCcccccagcttcttgcttggt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:9167317delC	uc001mhl.2	-	17	3158	c.2903delG	c.(2902-2904)GGCfs	p.G968fs	DENND5A_uc001mhk.2_Frame_Shift_Del_p.G311fs|DENND5A_uc010rbw.1_Frame_Shift_Del_p.G968fs|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	968	PLAT.									liver(1)	1						GAACATGGAGCCCCCCAGCTT	0.478													-	9167317	C	-	9167317	7	5	178	1	0	1	0	1	0	0	0	0	4436	739	26	0	988	0	DENND5A	11	9167317	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	2268710	9167317	125839199	422	95976											
ADM	133	broad.mit.edu	37	chr11	10328154	10328154	+	Frame_Shift_Del	DEL	C	C	-													acaagcacacggggctccagCccccccgagtggaagtgctc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:10328153_10328153GC>G	uc001mil.1	+	3	679	c.523_523GC>G	c.(523-525)gccfs	p.A175fs		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	175					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	p.S178fs*>9(1)		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)		CGGGGCTCCAGCCCCCCCGAG	0.677													-	10328154	C	-	10328154	7	5	178	1	0	1	0	1	0	0	0	0	321	739	26	0	534	0	ADM	11	10328154	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	1160837	10328154	124678362	423	95977											
AMPD3	272	broad.mit.edu	37	chr11	10483178	10483178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggacagcaaagatgccCtgtccctgttcactgtccca	9	13	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:10483178C>A	uc001mio.1	+	2	447	c.112C>A	c.(112-114)CTG>ATG	p.L38M	AMPD3_uc010rbz.1_Translation_Start_Site|AMPD3_uc001min.1_Missense_Mutation_p.L47M|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.L38M|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.L45M|AMPD3_uc009yfy.2_Missense_Mutation_p.L38M	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	38					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAAAGATGCCCTGTCCCTGTT	0.562													A	10483178	C	A	10483178	3	1	178	1	0	0	0	0	1	0	0	0	587	680	24	5	165	5	AMPD3	11	10483178	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	155024	10483178	124523338	424	95978											
LYVE1	10894	broad.mit.edu	37	chr11	10582327	10582327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgataatttctggaaTgcacgagttagtccaagtat	12	5	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:10582327T>C	uc001miv.2	-	4	704	c.418A>G	c.(418-420)ATT>GTT	p.I140V	uc001miu.2_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.I36V	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	140	Extracellular (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ATTTCTGGAATGCACGAGTTA	0.303													C	10582327	T	C	10582327	3	2	178	1	0	0	0	0	1	0	0	0	9129	1464	51	3	562	3	LYVE1	11	10582327	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	99149	10582327	124424189	425	95979											
ABCC8	6833	broad.mit.edu	37	chr11	17483306	17483306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgaagggctgcaggaagcGtacccccaggtcttgcaggt	14	12	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:17483306G>A	uc001mnc.2	-	5	772	c.646C>T	c.(646-648)CGC>TGC	p.R216C	ABCC8_uc010rcy.1_Missense_Mutation_p.R216C	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	216	Cytoplasmic (By similarity).				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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGCAGGAAGCGTACCCCCAGG	0.577													A	17483306	G	A	17483306	3	1	178	1	0	0	0	0	1	0	0	0	58	1145	40	1	4239	1	ABCC8	11	17483306	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	6900979	17483306	117523210	426	95980											
ELF5	2001	broad.mit.edu	37	chr11	34502322	34502322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgctattaacttacctcAgggctctgctcaacttttca	5	11	4	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:34502322A>G	uc001mvo.1	-	6	928	c.698T>C	c.(697-699)CTG>CCG	p.L233P	ELF5_uc001mvp.1_Missense_Mutation_p.L223P|ELF5_uc009ykd.1_Missense_Mutation_p.L128P	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	233	ETS.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				AACTTACCTCAGGGCTCTGCT	0.383													G	34502322	A	G	34502322	3	3	178	1	0	0	0	0	1	0	0	0	5057	188	7	3	107	3	ELF5	11	34502322	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	17019016	34502322	100504194	427	95981											
TSPAN18	90139	broad.mit.edu	37	chr11	44931350	44931350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaatcctctgctcctcaCgggcgcctacatcctcctgg	8	18	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:44931350C>T	uc001mye.3	+	3	319	c.158C>T	c.(157-159)ACG>ATG	p.T53M	TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.T53M	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	tetraspanin 18 isoform 2	53	Helical; (Potential).					integral to membrane					0						CTGCTCCTCACGGGCGCCTAC	0.662													T	44931350	C	T	44931350	3	4	178	1	0	0	0	0	1	0	0	0	16639	536	19	1	164	1	TSPAN18	11	44931350	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	10429028	44931350	90075166	428	95982											
OR4C46	119749	broad.mit.edu	37	chr11	51515361	51515361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagaaaatcatatttgTtgtgttttttgtcatctata	7	4	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:51515361T>C	uc010ric.1	+	1	80	c.80T>C	c.(79-81)GTT>GCT	p.V27A		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	27	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATCATATTTGTTGTGTTTTTT	0.413													C	51515361	T	C	51515361	3	2	178	1	0	0	0	0	1	0	0	0	11051	1725	60	3	82	3	OR4C46	11	51515361	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	6584011	51515361	83491155	429	95983											
OR4P4	81300	broad.mit.edu	37	chr11	55405899	55405899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaataagaacattgaAgtcctctgctttgtattatt	5	8	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:55405899A>C	uc010rij.1	+	1	66	c.66A>C	c.(64-66)GAA>GAC	p.E22D		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AGAACATTGAAGTCCTCTGCT	0.358													C	55405899	A	C	55405899	3	2	178	1	0	0	0	0	1	0	0	0	11080	69	3	5	68	5	OR4P4	11	55405899	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3890538	55405899	79600617	430	95984											
OR5W2	390148	broad.mit.edu	37	chr11	55681941	55681941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcattccaagatttgctgAgaaattaatgatataaacag	6	5	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:55681941A>G	uc010rir.1	-	1	118	c.118T>C	c.(118-120)TCA>CCA	p.S40P		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AGATTTGCTGAGAAATTAATG	0.353													G	55681941	A	G	55681941	3	3	178	1	0	0	0	0	1	0	0	0	11185	304	11	3	816	3	OR5W2	11	55681941	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	276042	55681941	79324575	431	95985											
OR5W2	390148	broad.mit.edu	37	chr11	55681953	55681953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgctgagaaattaatgaTataaacagccaagaatacag	7	5	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:55681953T>C	uc010rir.1	-	1	106	c.106A>G	c.(106-108)ATC>GTC	p.I36V		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AAATTAATGATATAAACAGCC	0.353													C	55681953	T	C	55681953	3	2	178	1	0	0	0	0	1	0	0	0	11185	1406	49	3	828	3	OR5W2	11	55681953	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	12	55681953	79324563	432	95986											
OR5T3	390154	broad.mit.edu	37	chr11	56019856	56019856	+	Frame_Shift_Del	DEL	T	T	-													aagtcttcctatttttactaTtttttgcaatctatctcttt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:56019855_56019855AT>A	uc010rjd.2	+	0	180	c.180_180AT>A	c.(178-180)ctafs	p.L60fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	60					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)					TATTTTTACTATTTTTTGCAA	0.373													-	56019856	T	-	56019856	7	5	178	1	0	1	0	1	0	0	0	0	11183	1493	52	0	183	0	OR5T3	11	56019856	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	337903	56019856	78986660	433	95987											
CTNND1	1500	broad.mit.edu	37	chr11	57575717	57575717	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaagactcctgccatcctaGaagcctcagctggagctatc	9	14	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:57575717G>A	uc001nmc.3	+	13	2615	c.2044G>A	c.(2044-2046)GAA>AAA	p.E682K	CTNND1_uc001nlh.1_Missense_Mutation_p.E682K|CTNND1_uc001nlu.3_Missense_Mutation_p.E575K|CTNND1_uc001nlt.3_Missense_Mutation_p.E575K|CTNND1_uc001nls.3_Missense_Mutation_p.E575K|CTNND1_uc001nlw.3_Missense_Mutation_p.E575K|CTNND1_uc001nmf.3_Missense_Mutation_p.E682K|CTNND1_uc001nmd.3_Missense_Mutation_p.E628K|CTNND1_uc001nlk.3_Missense_Mutation_p.E628K|CTNND1_uc001nme.3_Missense_Mutation_p.E676K|CTNND1_uc001nll.3_Missense_Mutation_p.E622K|CTNND1_uc001nmg.3_Missense_Mutation_p.E622K|CTNND1_uc001nlj.3_Missense_Mutation_p.E622K|CTNND1_uc001nlr.3_Missense_Mutation_p.E622K|CTNND1_uc001nlp.3_Missense_Mutation_p.E622K|CTNND1_uc001nlx.3_Missense_Mutation_p.E359K|CTNND1_uc001nlz.3_Missense_Mutation_p.E359K|CTNND1_uc009ymn.2_Missense_Mutation_p.E353K|CTNND1_uc001nlm.3_Missense_Mutation_p.E676K|CTNND1_uc001nly.3_Missense_Mutation_p.E353K|CTNND1_uc001nmb.3_Missense_Mutation_p.E353K|CTNND1_uc001nma.3_Missense_Mutation_p.E353K|CTNND1_uc001nmi.3_Missense_Mutation_p.E581K|CTNND1_uc001nmh.3_Missense_Mutation_p.E676K|CTNND1_uc001nlq.3_Missense_Mutation_p.E581K|CTNND1_uc001nln.3_Missense_Mutation_p.E676K|CTNND1_uc001nli.3_Missense_Mutation_p.E676K|CTNND1_uc001nlo.3_Missense_Mutation_p.E575K|CTNND1_uc001nlv.3_Missense_Mutation_p.E575K	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	682	ARM 7.				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(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				TGCCATCCTAGAAGCCTCAGC	0.458													A	57575717	G	A	57575717	3	1	178	1	0	0	0	0	1	0	0	0	4019	943	33	4	2086	4	CTNND1	11	57575717	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1555861	57575717	77430799	434	95988											
ZFP91	80829	broad.mit.edu	37	chr11	58378437	58378437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtagtgaagaggaagAggaggaggaagaagagatgt	17	0	0	5			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:58378437A>T	uc001nmx.3	+	5	800	c.632A>T	c.(631-633)GAG>GTG	p.E211V	ZFP91_uc001nmy.3_Missense_Mutation_p.E210V|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	211	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GAAGAGGAAGAGGAGGAGGAA	0.378													T	58378437	A	T	58378437	3	4	178	1	0	0	0	0	1	0	0	0	17652	304	11	5	650	5	ZFP91	11	58378437	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	802720	58378437	76628079	435	95989											
PATL1	219988	broad.mit.edu	37	chr11	59416970	59416970	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttcccccttaagttgtcAtacatgctacaaattttgtg	5	9	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:59416970A>G	uc001noe.3	-	14	1841	c.1698T>C	c.(1696-1698)TAT>TAC	p.Y566Y	PATL1_uc009yms.1_Silent_p.Y536Y|PATL1_uc010rkw.1_Silent_p.Y271Y	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	566	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						TTAAGTTGTCATACATGCTAC	0.433													G	59416970	A	G	59416970	2	3	178	1	0	0	0	0	0	0	0	1	11475	224	8	3		3	PATL1	11	59416970	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1038533	59416970	75589546	436	95990											
STX3	6809	broad.mit.edu	37	chr11	59564791	59564791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgctagtagttgtgttGctgggcattttagcattgat	12	4	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:59564791G>A	uc001nog.2	+	10	1012	c.822G>A	c.(820-822)TTG>TTA	p.L274L	STX3_uc010rkx.1_Intron|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_Silent_p.L140L	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	274	Helical; Anchor for type IV membrane protein; (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						TAGTTGTGTTGCTGGGCATTT	0.363													A	59564791	G	A	59564791	2	1	178	1	0	0	0	0	0	0	0	1	15345	1310	46	2		2	STX3	11	59564791	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	147821	59564791	75441725	437	95991											
MS4A8B	83661	broad.mit.edu	37	chr11	60476247	60476247	+	Frame_Shift_Del	DEL	G	G	-													cgactattatccttacgcctGgggtgtggtgagtatccctc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:60476246_60476246TG>T	uc001npv.3	+	4	729	c.526_526TG>T	c.(526-528)tggfs	p.W176fs	MS4A8B_uc009yne.1_Frame_Shift_Del_p.W176fs	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	176						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCTTACGCCTGGGGTGTGGT	0.463													-	60476247	G	-	60476247	7	5	178	1	0	1	0	1	0	0	0	0	9867	1357	47	0	541	0	MS4A8B	11	60476247	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	911456	60476247	74530269	438	95992											
INCENP	3619	broad.mit.edu	37	chr11	61917561	61917561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcatatcagatgactccGcaagggcacagggcccctcc	9	16	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:61917561G>A	uc001nsw.1	+	18	2626	c.2424G>A	c.(2422-2424)CCG>CCA	p.P808P	INCENP_uc001nsx.1_Silent_p.P804P|INCENP_uc001nsy.1_Silent_p.P222P	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	808					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						AGATGACTCCGCAAGGGCACA	0.562													A	61917561	G	A	61917561	2	1	178	1	0	0	0	0	0	0	0	1	7733	1074	38	1		1	INCENP	11	61917561	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1441314	61917561	73088955	439	95993											
PYGM	5837	broad.mit.edu	37	chr11	64525753	64525753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcttctggttaaaaatccCaaactcatagcgaatcccgt	6	11	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:64525753C>A	uc001oax.3	-	4	1310	c.493G>T	c.(493-495)GGG>TGG	p.G165W	PYGM_uc001oay.3_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	165					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	TTAAAAATCCCAAACTCATAG	0.572													A	64525753	C	A	64525753	3	1	178	1	0	0	0	0	1	0	0	0	12862	594	21	5	2103	5	PYGM	11	64525753	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2608192	64525753	70480763	440	95994											
SYVN1	84447	broad.mit.edu	37	chr11	64897791	64897791	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgggacaggtggaaaggggCccatggggggccacagtggg	22	8	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:64897791C>G	uc001odb.2	-	12	1260	c.1166G>C	c.(1165-1167)GGC>GCC	p.G389A	SYVN1_uc001odc.2_Missense_Mutation_p.G389A|SYVN1_uc009yqc.2_Missense_Mutation_p.G338A	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	389	Pro-rich.|Cytoplasmic (Potential).				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			ovary(1)	1						TGGAAAGGGGCCCATGGGGGG	0.637													G	64897791	C	G	64897791	3	3	178	1	0	0	0	0	1	0	0	0	15484	739	26	5	707	5	SYVN1	11	64897791	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	372038	64897791	70108725	441	95995											
LTBP3	4054	broad.mit.edu	37	chr11	65321785	65321785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcgcccagtgaagtccGggggacacaggcactggttt	15	10	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:65321785G>A	uc001oej.2	-	2	667	c.398C>T	c.(397-399)CCG>CTG	p.P133L	LTBP3_uc010roi.1_Missense_Mutation_p.P16L|LTBP3_uc001oei.2_Missense_Mutation_p.P133L|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.P44L	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	133	EGF-like 1.|Gly-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						AGTGAAGTCCGGGGGACACAG	0.697													A	65321785	G	A	65321785	3	1	178	1	0	0	0	0	1	0	0	0	9075	1116	39	1	3621	1	LTBP3	11	65321785	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	423994	65321785	69684731	442	95996											
TCIRG1	10312	broad.mit.edu	37	chr11	67818098	67818098	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggtgatggagggacTctcagccttcctgcacgccc	12	15	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:67818098T>G	uc001one.2	+	19	2489	c.2381T>G	c.(2380-2382)CTC>CGC	p.L794R	TCIRG1_uc001ong.2_Missense_Mutation_p.L578R|TCIRG1_uc001onh.2_Missense_Mutation_p.L496R|TCIRG1_uc001oni.2_Missense_Mutation_p.L298R|TCIRG1_uc009ysd.2_Intron	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	794	Cytoplasmic (Potential).				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			ovary(1)	1						ATGGAGGGACTCTCAGCCTTC	0.667													G	67818098	T	G	67818098	3	3	178	1	0	0	0	0	1	0	0	0	15700	1551	54	5	2451	5	TCIRG1	11	67818098	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2496313	67818098	67188418	443	95997											
P2RY6	5031	broad.mit.edu	37	chr11	73007624	73007624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaccacctgtgtctacCgcgagaacttcaagcaactg	7	16	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:73007624C>T	uc001otm.2	+	4	466	c.61C>T	c.(61-63)CGC>TGC	p.R21C	P2RY6_uc001otn.2_Missense_Mutation_p.R21C|P2RY6_uc001oto.2_Missense_Mutation_p.R21C|P2RY6_uc001otp.2_Missense_Mutation_p.R21C|P2RY6_uc001otq.2_Missense_Mutation_p.R21C|P2RY6_uc001otr.2_Missense_Mutation_p.R21C|P2RY6_uc001ots.2_Missense_Mutation_p.R21C	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	21	Extracellular (Potential).				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			ovary(1)	1						CTGTGTCTACCGCGAGAACTT	0.602													T	73007624	C	T	73007624	3	4	178	1	0	0	0	0	1	0	0	0	11354	652	23	1	63	1	P2RY6	11	73007624	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5189526	73007624	61998892	444	95998											
C2CD3	26005	broad.mit.edu	37	chr11	73748596	73748596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggctcccagggtctagGctgctggcacctggcccaag	13	15	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:73748596G>A	uc001ouu.2	-	30	6035	c.5808C>T	c.(5806-5808)AGC>AGT	p.S1936S	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1936						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					CAGGGTCTAGGCTGCTGGCAC	0.542													A	73748596	G	A	73748596	2	1	178	1	0	0	0	0	0	0	0	1	2154	1194	42	2		2	C2CD3	11	73748596	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	740972	73748596	61257920	445	95999											
CEP164	22897	broad.mit.edu	37	chr11	117261607	117261607	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtccagcacacaagcAgatgaggaccaaatcaggta	10	11	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:117261607A>T	uc001prc.2	+	16	2196	c.2049A>T	c.(2047-2049)GCA>GCT	p.A683A	CEP164_uc001prb.2_Silent_p.A686A|CEP164_uc010rxk.1_Silent_p.A657A|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.A116A	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	683	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		GCACACAAGCAGATGAGGACC	0.602													T	117261607	A	T	117261607	2	4	178	1	0	0	0	0	0	0	0	1	3249	175	7	5		5	CEP164	11	117261607	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	43513011	117261607	17744909	446	96000											
AMICA1	120425	broad.mit.edu	37	chr11	118083204	118083204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaaacacatcccatcAgagctgaatcacccacatgg	7	13	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:118083204A>G	uc001psk.2	-	3	290	c.116T>C	c.(115-117)CTG>CCG	p.L39P	AMICA1_uc001psh.2_5'UTR|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.L29P|AMICA1_uc001psj.2_Missense_Mutation_p.L39P|AMICA1_uc010rxw.1_5'UTR|AMICA1_uc010rxx.1_Missense_Mutation_p.L39P|AMICA1_uc001psl.1_Intron	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	39	Ig-like V-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACATCCCATCAGAGCTGAATC	0.473													G	118083204	A	G	118083204	3	3	178	1	0	0	0	0	1	0	0	0	574	188	7	3	1100	3	AMICA1	11	118083204	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	821597	118083204	16923312	447	96001											
MLL	4297	broad.mit.edu	37	chr11	118359351	118359351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtattgccaagtctgttGtgagcccttccacaagtttt	9	9	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:118359351G>T	uc001pta.2	+	11	4378	c.4355G>T	c.(4354-4356)TGT>TTT	p.C1452F	MLL_uc001ptb.2_Missense_Mutation_p.C1452F|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1452	PHD-type 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAGTCTGTTGTGAGCCCTTC	0.398			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118359351	G	T	118359351	3	4	178	1	0	0	0	0	1	0	0	0	9620	1377	48	5	4397	5	MLL	11	118359351	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	276147	118359351	16647165	448	96002											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	178	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-CG-4465-01A-01D-1158-08	270263	118629614	16376902	449	96003											
UPK2	7379	broad.mit.edu	37	chr11	118827661	118827661	+	Frame_Shift_Del	DEL	C	C	-													agagcctgctggttgccttgCccccctgtcacctcacagga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:118827660_118827660GC>G	uc001puh.3	+	1	197	c.144_144GC>G	c.(142-144)ttgfs	p.L48fs		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	48					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGGTTGCCTTGCCCCCCTGTC	0.602											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	118827661	C	-	118827661	7	5	178	1	0	1	0	1	0	0	0	0	17006	739	26	0	151	0	UPK2	11	118827661	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	198047	118827661	16178855	450	96004											
TECTA	7007	broad.mit.edu	37	chr11	120989148	120989148	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgaggtgtgcgaacccaaAggcaaattcttctactgcag	10	10	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:120989148A>C	uc010rzo.1	+	6	924	c.924A>C	c.(922-924)AAA>AAC	p.K308N		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	308	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		GCGAACCCAAAGGCAAATTCT	0.532													C	120989148	A	C	120989148	3	2	178	1	0	0	0	0	1	0	0	0	15744	69	3	5	946	5	TECTA	11	120989148	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	2161487	120989148	14017368	451	96005											
TECTA	7007	broad.mit.edu	37	chr11	120996139	120996139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttgatggccagcactaCgcctccatttccgtcccagg	8	15	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:120996139C>T	uc010rzo.1	+	7	1332	c.1332C>T	c.(1330-1332)TAC>TAT	p.Y444Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	444	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		GCCAGCACTACGCCTCCATTT	0.488													T	120996139	C	T	120996139	2	4	178	1	0	0	0	0	0	0	0	1	15744	547	19	1		1	TECTA	11	120996139	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6991	120996139	14010377	452	96006											
ZNF202	7753	broad.mit.edu	37	chr11	123601252	123601252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccagcgtcactgcctcCtcgccactttctggccgttg	8	18	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:123601252C>A	uc001pzd.1	-	4	745	c.345G>T	c.(343-345)GAG>GAT	p.E115D	ZNF202_uc001pzc.1_Translation_Start_Site|ZNF202_uc001pze.1_Missense_Mutation_p.E115D|ZNF202_uc001pzf.1_Missense_Mutation_p.E115D	NM_003455	NP_003446	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			ovary(1)	1		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													A	123601252	C	A	123601252	3	1	178	1	0	0	0	0	1	0	0	0	17760	680	24	5	1625	5	ZNF202	11	123601252	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2605113	123601252	11405264	453	96007											
ROBO4	54538	broad.mit.edu	37	chr11	124756593	124756593	+	Frame_Shift_Del	DEL	C	C	-													gaggtgggcacagcaagactCcccccttgggccccacccct							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:124756593delC	uc001qbg.2	-	16	2701	c.2561delG	c.(2560-2562)GGAfs	p.G854fs	ROBO4_uc010sas.1_Frame_Shift_Del_p.G709fs|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Frame_Shift_Del_p.G412fs	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	854					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAGCAAGACTCCCCCCTTGGG	0.662													-	124756593	C	-	124756593	7	5	178	1	0	1	0	1	0	0	0	0	13516	855	30	0	474	0	ROBO4	11	124756593	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	1155341	124756593	10249923	454	96008											
SRPR	6734	broad.mit.edu	37	chr11	126135974	126135974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagtgttcccttggtcGcactgcagggacaggagatt	12	12	0	1	rs138456100	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:126135974G>A	uc001qdh.2	-	8	986	c.935C>T	c.(934-936)GCG>GTG	p.A312V	SRPR_uc010sbm.1_Missense_Mutation_p.A284V	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	312					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCCCTTGGTCGCACTGCAGGG	0.478													A	126135974	G	A	126135974	3	1	178	1	0	0	0	0	1	0	0	0	15161	1087	38	1	1009	1	SRPR	11	126135974	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1379381	126135974	8870542	455	96009											
GLB1L2	89944	broad.mit.edu	37	chr11	134241040	134241040	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtgcatgatcgggggCaggtaggagcttctcttcta	14	10	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr11:134241040C>A	uc001qhp.2	+	13	1542	c.1354C>A	c.(1354-1356)CAG>AAG	p.Q452K	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	452					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		TGATCGGGGGCAGGTAGGAGC	0.542													A	134241040	C	A	134241040	3	1	178	1	0	0	0	0	1	0	0	0	6429	711	25	5	1404	5	GLB1L2	11	134241040	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	8105066	134241040	765476	456	96010											
CD27	939	broad.mit.edu	37	chr12	6554270	6554270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagggaccatggcacgGccacatccctggtggctgtg	16	12	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:6554270G>A	uc001qod.2	+	1	220	c.9G>A	c.(7-9)CGG>CGA	p.R3R	LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	tumor necrosis factor receptor superfamily,	3					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				0						CCATGGCACGGCCACATCCCT	0.637													A	6554270	G	A	6554270	2	1	178	1	0	0	0	0	0	0	0	1	2990	1190	42	2		2	CD27	12	6554270	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08		6554270	127297625	457	96011											
CHD4	1108	broad.mit.edu	37	chr12	6697051	6697051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctcctccactgacgcaCgggtcacaaaccggtagatc	10	15	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:6697051C>T	uc001qpo.2	-	24	3694	c.3530G>A	c.(3529-3531)CGT>CAT	p.R1177H	CHD4_uc001qpn.2_Missense_Mutation_p.R1170H|CHD4_uc001qpp.2_Missense_Mutation_p.R1174H	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1177	Helicase C-terminal.				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						CACTGACGCACGGGTCACAAA	0.502													T	6697051	C	T	6697051	3	4	178	1	0	0	0	0	1	0	0	0	3327	536	19	1	2276	1	CHD4	12	6697051	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	142781	6697051	127154844	458	96012											
A2M	2	broad.mit.edu	37	chr12	9243902	9243902	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacaaagaagggctggaaGgctcggagagaggcagtgga	17	7	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:9243902G>T	uc001qvk.1	-	19	2477	c.2364C>A	c.(2362-2364)GCC>GCA	p.A788A	A2M_uc009zgk.1_Silent_p.A638A	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	788					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGGCTGGAAGGCTCGGAGAG	0.542													T	9243902	G	T	9243902	2	4	178	1	0	0	0	0	0	0	0	1	4	987	35	5		5	A2M	12	9243902	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2546851	9243902	124607993	459	96013											
CD69	969	broad.mit.edu	37	chr12	9907700	9907700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcaagagtagcaccatgTtcagaacaagcattttgggc	10	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:9907700T>C	uc001qwk.2	-	3	426	c.345A>G	c.(343-345)GAA>GAG	p.E115E	CD69_uc010sgu.1_Silent_p.E115E|CD69_uc010sgv.1_Silent_p.E115E	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	115	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						TAGCACCATGTTCAGAACAAG	0.378													C	9907700	T	C	9907700	2	2	178	1	0	0	0	0	0	0	0	1	3031	1722	60	3		3	CD69	12	9907700	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	663798	9907700	123944195	460	96014											
MANSC1	54682	broad.mit.edu	37	chr12	12491412	12491412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatggacaggcttcctcGttgggacagaaaaataggta	11	7	1	1	rs147279934		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:12491412G>A	uc001rai.1	-	3	564	c.306C>T	c.(304-306)AAC>AAT	p.N102N	MANSC1_uc010shm.1_Silent_p.N36N|MANSC1_uc001raj.1_Silent_p.N68N|MANSC1_uc009zht.1_Silent_p.N21N	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	102	MANSC.|Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGGCTTCCTCGTTGGGACAGA	0.383													A	12491412	G	A	12491412	2	1	178	1	0	0	0	0	0	0	0	1	9224	1136	40	1		1	MANSC1	12	12491412	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2583712	12491412	121360483	461	96015											
SLCO1B3	28234	broad.mit.edu	37	chr12	21229503	21229503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atataattccacatatttggGgtaagttgtcataaatatat	6	4	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:21229503G>T	uc010sil.1	+	15	2113	c.2048G>T	c.(2047-2049)GGA>GTA	p.G683V	LST-3TM12_uc010sim.1_Missense_Mutation_p.G622V|LST-3TM12_uc010sin.1_Missense_Mutation_p.G575V			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					ACATATTTGGGGTAAGTTGTC	0.299													T	21229503	G	T	21229503	3	4	178	1	0	0	0	0	1	0	0	0	14724	1246	43	5		5	SLCO1B3	12	21229503	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8738091	21229503	112622392	462	96016											
HDAC7	51564	broad.mit.edu	37	chr12	48183343	48183343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggtgtcctgggggccGcaccacagcgaaaccattct	12	13	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:48183343G>A	uc010slo.1	-	18	2305	c.2110C>T	c.(2110-2112)CGG>TGG	p.R704W	HDAC7_uc009zku.2_Intron|HDAC7_uc001rqe.2_Missense_Mutation_p.R138W|HDAC7_uc001rqj.3_Missense_Mutation_p.R667W|HDAC7_uc001rqk.3_Missense_Mutation_p.R687W|HDAC7_uc010slp.1_5'Flank	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	665	Histone deacetylase.			R -> W (in Ref. 5; BAA91474).	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			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CCTGGGGGCCGCACCACAGCG	0.532													A	48183343	G	A	48183343	3	1	178	1	0	0	0	0	1	0	0	0	7012	1086	38	1	901	1	HDAC7	12	48183343	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	26953840	48183343	85668552	463	96017											
GPD1	2819	broad.mit.edu	37	chr12	50499353	50499353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtcccagatgtggtccAggctgcagaggatgctgaca	15	10	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:50499353A>G	uc001rvz.2	+	3	275	c.242A>G	c.(241-243)CAG>CGG	p.Q81R	GPD1_uc010smp.1_Missense_Mutation_p.Q81R|GPD1_uc001rwa.2_Intron	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	81					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GATGTGGTCCAGGCTGCAGAG	0.592													G	50499353	A	G	50499353	3	3	178	1	0	0	0	0	1	0	0	0	6604	188	7	3	252	3	GPD1	12	50499353	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	2316010	50499353	83352542	464	96018											
LARP4	113251	broad.mit.edu	37	chr12	50848191	50848191	+	Frame_Shift_Del	DEL	A	A	-													gaatatgggtcgaccattccAaaaaaatcggtaagataaaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:50848191delA	uc001rwp.1	+	10	1256	c.1112delA	c.(1111-1113)CAAfs	p.Q371fs	LARP4_uc001rwo.1_Frame_Shift_Del_p.Q377fs|LARP4_uc001rwq.1_Frame_Shift_Del_p.Q300fs|LARP4_uc001rwr.1_Frame_Shift_Del_p.Q371fs|LARP4_uc001rws.1_Frame_Shift_Del_p.Q370fs|LARP4_uc009zlr.1_Frame_Shift_Del_p.Q190fs|LARP4_uc001rwt.1_Frame_Shift_Del_p.Q33fs|LARP4_uc001rwm.2_Frame_Shift_Del_p.Q371fs|LARP4_uc001rwn.2_Frame_Shift_Del_p.Q301fs	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	371							nucleotide binding|RNA binding			ovary(1)	1						CGACCATTCCAAAAAAATCGG	0.358													-	50848191	A	-	50848191	7	5	178	1	0	1	0	1	0	0	0	0	8630	130	5	0	1150	0	LARP4	12	50848191	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	348838	50848191	83003704	465	96019											
KRT73	319101	broad.mit.edu	37	chr12	53004555	53004555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatccagcttggccctgGcatccttgagggcacagtcc	11	15	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:53004555G>A	uc001sas.2	-	7	1210	c.1175C>T	c.(1174-1176)GCC>GTC	p.A392V		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	392	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTGGCCCTGGCATCCTTGAG	0.637													A	53004555	G	A	53004555	3	1	178	1	0	0	0	0	1	0	0	0	8486	1203	42	2	459	2	KRT73	12	53004555	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2156364	53004555	80847340	466	96020											
KRT8	3856	broad.mit.edu	37	chr12	53298482	53298482	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgttgttgagggtcttgAtctgctccttctcctgggtg	12	9	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:53298482A>T	uc001sbd.2	-	1	387	c.284T>A	c.(283-285)ATC>AAC	p.I95N	KRT8_uc009zmj.2_Missense_Mutation_p.I95N|KRT8_uc009zmk.1_Missense_Mutation_p.I123N|KRT8_uc009zml.1_Missense_Mutation_p.I95N|KRT8_uc009zmm.1_Missense_Mutation_p.I95N	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	95	Coil 1A.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGGTCTTGATCTGCTCCTT	0.617													T	53298482	A	T	53298482	3	4	178	1	0	0	0	0	1	0	0	0	8493	333	12	5	1199	5	KRT8	12	53298482	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	293927	53298482	80553413	467	96021											
ITGA7	3679	broad.mit.edu	37	chr12	56078934	56078934	+	Frame_Shift_Del	DEL	G	G	-													tgcatccgggccctcccgccGggggctgccccagttgttcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:56078934delG	uc001shh.2	-	25	3554	c.3334delC	c.(3334-3336)CGGfs	p.R1112fs	ITGA7_uc001shg.2_Frame_Shift_Del_p.R1108fs|ITGA7_uc010sps.1_Frame_Shift_Del_p.R1015fs|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Frame_Shift_Del_p.R355fs|ITGA7_uc009znx.2_Frame_Shift_Del_p.R989fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1152	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CCCTCCCGCCGGGGGCTGCCC	0.667													-	56078934	G	-	56078934	7	5	178	1	0	1	0	1	0	0	0	0	7881	1115	39	0	95	0	ITGA7	12	56078934	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	2780452	56078934	77772961	468	96022											
ERBB3	2065	broad.mit.edu	37	chr12	56482560	56482560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaggctctgggagccgCttccagactgtggactcgag	15	11	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:56482560C>T	uc001sjh.2	+	9	1210	c.1017C>T	c.(1015-1017)CGC>CGT	p.R339R	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Silent_p.R280R|ERBB3_uc001sji.2_Silent_p.R30R	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	339	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGAGCCGCTTCCAGACTG	0.532													T	56482560	C	T	56482560	2	4	178	1	0	0	0	0	0	0	0	1	5208	784	28	2		2	ERBB3	12	56482560	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	403626	56482560	77369335	469	96023											
ANKRD52	283373	broad.mit.edu	37	chr12	56642004	56642004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcacagtgaccgttgTaggcctggcaaggtgcaggc	15	10	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:56642004T>C	uc001skm.3	-	18	1871	c.1781A>G	c.(1780-1782)TAC>TGC	p.Y594C		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	594	ANK 17.						protein binding			ovary(2)	2						GTGACCGTTGTAGGCCTGGCA	0.622													C	56642004	T	C	56642004	3	2	178	1	0	0	0	0	1	0	0	0	678	1638	57	3	1493	3	ANKRD52	12	56642004	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	159444	56642004	77209891	470	96024											
RBMS2	5939	broad.mit.edu	37	chr12	56915862	56915864	+	In_Frame_Del	DEL	AAC	AAC	-													cgacttttggctacaatagaAacaacaagaaggtagggaaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:56915861_56915863AAAC>A	uc001sln.2	+	0	253_255	c.54_56AAAC>A	c.(52-57)agaaac>agAc	p.N20del	RBMS2_uc010sqp.1_5'UTR|RBMS2_uc010sqq.1_5'UTR|RBMS2_uc009zou.2_5'UTR	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	20					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GCTACAATAGAAACAACAAGAAG	0.429													-	56915864	AAC	-	56915862	7	5	178	1	0	1	0	1	0	0	0	0	13149	14	1	0	57	0	RBMS2	12	56915862	In_Frame_Del	DEL	AAC	TCGA-CG-4465-01A-01D-1158-08	273858	56915862	76936033	471	96025											
BAZ2A	11176	broad.mit.edu	37	chr12	56994529	56994529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacccattgaagcactgctAggtctgtctcgtatgtcttc	8	12	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:56994529A>G	uc001slq.1	-	23	4738	c.4544T>C	c.(4543-4545)CTA>CCA	p.L1515P	BAZ2A_uc001slp.1_Missense_Mutation_p.L1513P|BAZ2A_uc001slo.1_Missense_Mutation_p.L321P|BAZ2A_uc009zov.1_Missense_Mutation_p.L481P|BAZ2A_uc009zow.1_Missense_Mutation_p.L1483P	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1515					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				0						AAGCACTGCTAGGTCTGTCTC	0.527													G	56994529	A	G	56994529	3	3	178	1	0	0	0	0	1	0	0	0	1331	420	15	3	1201	3	BAZ2A	12	56994529	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	78667	56994529	76857366	472	96026											
MYO1A	4640	broad.mit.edu	37	chr12	57440668	57440668	+	Frame_Shift_Del	DEL	G	G	-													gtttgtgatgacaccaccgaGgggggatcccttgaagtcaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:57440667_57440667AG>A	uc001smw.4	-	6	761	c.521_521CT>T	c.(520-522)ctcfs	p.L174fs	MYO1A_uc010sqz.2_Frame_Shift_Del_p.L12fs|MYO1A_uc009zpd.3_Frame_Shift_Del_p.L174fs	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	174	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin 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						GACACCACCGAGGGGGGATCC	0.498													-	57440668	G	-	57440668	7	5	178	1	0	1	0	1	0	0	0	0	10068	1000	35	0	2699	0	MYO1A	12	57440668	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	446139	57440668	76411227	473	96027											
R3HDM2	22864	broad.mit.edu	37	chr12	57652675	57652675	+	Splice_Site	DEL	G	G	-													gctgagtgctgcactcacctGggggctgctgtcaggactgt					rs140435515		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:57652674_57652674TG>T	uc009zpm.1	-	18	2294	c.2259_splice	c.e18+1	p.Q753_splice	R3HDM2_uc010srn.1_Splice_Site|R3HDM2_uc001snu.2_Splice_Site_p.Q448_splice|R3HDM2_uc001snr.2_Splice_Site_p.Q480_splice|R3HDM2_uc001sns.2_Splice_Site_p.Q753_splice|R3HDM2_uc001snt.2_Splice_Site_p.Q767_splice	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	753						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						TGCACTCACCTGGGGGCTGCT	0.537													-	57652675	G	-	57652675	8	5	178	1	0	1	0	1	0	0	1	0	12888	1357	47	0	693	0	R3HDM2	12	57652675	Splice_Site	DEL	G	TCGA-CG-4465-01A-01D-1158-08	212007	57652675	76199220	474	96028											
GLI1	2735	broad.mit.edu	37	chr12	57858512	57858512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaagaagcgggcactgTccatctcacctctgtcggat	10	13	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:57858512T>C	uc001snx.2	+	4	328	c.250T>C	c.(250-252)TCC>CCC	p.S84P	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	84					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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GCGGGCACTGTCCATCTCACC	0.582													C	57858512	T	C	57858512	3	2	178	1	0	0	0	0	1	0	0	0	6437	1667	58	3	260	3	GLI1	12	57858512	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	205837	57858512	75993383	475	96029											
AVIL	10677	broad.mit.edu	37	chr12	58209783	58209783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagacaatgatcccaGggtcgttgtccacagccctg	9	14	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:58209783G>A	uc001sqj.1	-	1	70	c.41C>T	c.(40-42)CCT>CTT	p.P14L	AVIL_uc009zqe.1_5'UTR|AVIL_uc001sql.3_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	14	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AATGATCCCAGGGTCGTTGTC	0.547													A	58209783	G	A	58209783	3	1	178	1	0	0	0	0	1	0	0	0	1227	1000	35	4	2494	4	AVIL	12	58209783	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	351271	58209783	75642112	476	96030											
XPOT	11260	broad.mit.edu	37	chr12	64803776	64803776	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgggatcagagggcaCgcctattacaaccagaaaac	10	10	2	2	rs147876387	by1000genomes	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:64803776C>T	uc001ssb.2	+	2	387	c.-39C>T	c.(-41--37)CACGC>CATGC		XPOT_uc009zqm.1_Translation_Start_Site	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin						intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TCAGAGGGCACGCCTATTACA	0.368													T	64803776	C	T	64803776	1	4	178	1	0	0	0	0	0	0	0	0	17447	551	19	1		1	XPOT	12	64803776	Translation_Start_Site	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6593993	64803776	69048119	477	96031											
NUP107	57122	broad.mit.edu	37	chr12	69109437	69109437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccataagacagaaaatgCcccttgatgatctggataga	8	10	1	5			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:69109437C>T	uc001suf.2	+	12	1115	c.1000C>T	c.(1000-1002)CCC>TCC	p.P334S	NUP107_uc001sug.2_Missense_Mutation_p.P181S|NUP107_uc010stj.1_Missense_Mutation_p.P305S	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	334					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAGAAAATGCCCCTTGATGA	0.373													T	69109437	C	T	69109437	3	4	178	1	0	0	0	0	1	0	0	0	10753	739	26	2	1046	2	NUP107	12	69109437	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4305661	69109437	64742458	478	96032											
PTPRR	5801	broad.mit.edu	37	chr12	71094956	71094956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtgaacttgccacgacGtccctcagctgagaccttgt	9	12	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:71094956G>A	uc001swi.1	-	7	1571	c.1155C>T	c.(1153-1155)GAC>GAT	p.D385D	PTPRR_uc001swh.1_Silent_p.D140D|PTPRR_uc009zrs.2_Silent_p.D234D|PTPRR_uc010stq.1_Silent_p.D273D|PTPRR_uc010str.1_Silent_p.D234D	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	385	Cytoplasmic (Potential).				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			skin(2)|ovary(1)	3			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)		TTGCCACGACGTCCCTCAGCT	0.458													A	71094956	G	A	71094956	2	1	178	1	0	0	0	0	0	0	0	1	12810	1136	40	1		1	PTPRR	12	71094956	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1985519	71094956	62756939	479	96033											
TRHDE	29953	broad.mit.edu	37	chr12	72666574	72666574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgatgggggaagacgacGccgcgcttcgggctggcagc	18	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:72666574G>A	uc001sxa.2	+	1	46	c.16G>A	c.(16-18)GCC>ACC	p.A6T	LOC283392_uc010stv.1_Missense_Mutation_p.R46C	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	6	Cytoplasmic (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GGAAGACGACGCCGCGCTTCG	0.537													A	72666574	G	A	72666574	3	1	178	1	0	0	0	0	1	0	0	0	16476	1087	38	1	18	1	TRHDE	12	72666574	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1571618	72666574	61185321	480	96034											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804255	75804255	+	Frame_Shift_Del	DEL	A	A	-													cggactgctagagcatggggAaaaaaatgtttgtttacgca					rs144818804	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:75804254_75804254GA>G	uc001sxr.1	+	1	283	c.275_275GA>G	c.(274-276)ggafs	p.G92fs	GLIPR1L2_uc001sxp.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	92						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGCATGGGGAAAAAAATGT	0.318													-	75804255	A	-	75804255	7	5	178	1	0	1	0	1	0	0	0	0	6443	233	9	0	282	0	GLIPR1L2	12	75804255	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	3137681	75804255	58047640	481	96035											
PPFIA2	8499	broad.mit.edu	37	chr12	81657028	81657028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatctgttgtcatttttcTtgactgcccagaggttgtgg	10	9	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:81657028T>C	uc001szo.1	-	31	3858	c.3697A>G	c.(3697-3699)AGA>GGA	p.R1233G	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	1132										ovary(3)|lung(2)|pancreas(1)	6						GTCATTTTTCTTGACTGCCCA	0.423													C	81657028	T	C	81657028	3	2	178	1	0	0	0	0	1	0	0	0	12310	1617	56	3	84	3	PPFIA2	12	81657028	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	5852773	81657028	52194867	482	96036											
APPL2	55198	broad.mit.edu	37	chr12	105589059	105589059	+	Frame_Shift_Del	DEL	T	T	-													ctggggcatgagctttcttgTttttttccaaaacttgtaat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:105589059delT	uc001tlf.1	-	14	1439	c.1221delA	c.(1219-1221)AAAfs	p.K407fs	APPL2_uc010swt.1_Frame_Shift_Del_p.K364fs|APPL2_uc001tlg.1_Frame_Shift_Del_p.K161fs|APPL2_uc010swu.1_Frame_Shift_Del_p.K413fs|APPL2_uc009zuq.2_Frame_Shift_Del_p.K364fs	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	407	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						AGCTTTCTTGTTTTTTTCCAA	0.408													-	105589059	T	-	105589059	7	5	178	1	0	1	0	1	0	0	0	0	818	1722	60	0	805	0	APPL2	12	105589059	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	23932031	105589059	28262836	483	96037											
PRDM4	11108	broad.mit.edu	37	chr12	108147777	108147777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtagtttctttcaggTaacccacacatcacccctcg	8	13	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:108147777T>C	uc001tmp.2	-	4	692	c.255A>G	c.(253-255)TTA>TTG	p.L85L	PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	85					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			breast(1)|skin(1)	2						TTCTTTCAGGTAACCCACACA	0.488													C	108147777	T	C	108147777	2	2	178	1	0	0	0	0	0	0	0	1	12459	1635	57	3		3	PRDM4	12	108147777	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2558718	108147777	25704118	484	96038											
ACACB	32	broad.mit.edu	37	chr12	109690945	109690945	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttataccatcctggagtgGctgtcctatatgccaaaggt	10	9	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:109690945G>A	uc001tob.2	+	43	6146	c.6027G>A	c.(6025-6027)TGG>TGA	p.W2009*	ACACB_uc001toc.2_Nonsense_Mutation_p.W2009*|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Nonsense_Mutation_p.W675*	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2009	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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCCTGGAGTGGCTGTCCTATA	0.512													A	109690945	G	A	109690945	4	1	178	1	0	0	0	0	0	1	0	0	107	1212	42	2	6193	2	ACACB	12	109690945	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1543168	109690945	24160950	485	96039											
SDSL	113675	broad.mit.edu	37	chr12	113867032	113867033	+	Frame_Shift_Ins	INS	-	-	C													ttcctgccaccatcgtgctcINScccgagagcacctccctgca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:113867031_113867032T>TC	uc001tvi.3	+	4	488_489	c.281_282T>TC	c.(280-282)ctcfs	p.L94fs	SDSL_uc009zwh.3_Frame_Shift_Ins_p.L94fs	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	94					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	ACCATCGTGCTCCCCGAGAGCA	0.629													C	113867033	-	C	113867032	7	5	178	1	0	1	1	0	0	0	0	0	13976	842	30	0	292	0	SDSL	12	113867032	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	4176087	113867032	19984863	486	96040											
PITPNM2	57605	broad.mit.edu	37	chr12	123490022	123490022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagctcccggatgttctcCatgctcagcccataccactc	6	18	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:123490022C>A	uc001uej.1	-	6	856	c.717G>T	c.(715-717)ATG>ATT	p.M239I	PITPNM2_uc001uek.1_Missense_Mutation_p.M239I|PITPNM2_uc009zxu.1_Missense_Mutation_p.M239I	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	239					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		GGATGTTCTCCATGCTCAGCC	0.612													A	123490022	C	A	123490022	3	1	178	1	0	0	0	0	1	0	0	0	11951	594	21	5	3412	5	PITPNM2	12	123490022	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	9622990	123490022	10361873	487	96041											
SBNO1	55206	broad.mit.edu	37	chr12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T													tcccatatcatatcttccatINStttttttggcattttgaaca							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		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)		CATATCTTCCATTTTTTTTGGC	0.386													T	123794284	-	T	123794283	7	5	178	1	0	1	1	0	0	0	0	0	13862	1493	52	0	793	0	SBNO1	12	123794283	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	304261	123794283	10057612	488	96042											
TCTN2	79867	broad.mit.edu	37	chr12	124155800	124155800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaggcatgggcttccagCctccggccgctcttcttttg	10	14	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:124155800C>T	uc001ufp.2	+	1	141	c.13C>T	c.(13-15)CCT>TCT	p.P5S	TCTN2_uc009zya.2_Missense_Mutation_p.P5S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	5					cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	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)		GGGCTTCCAGCCTCCGGCCGC	0.632													T	124155800	C	T	124155800	3	4	178	1	0	0	0	0	1	0	0	0	15720	739	26	2	15	2	TCTN2	12	124155800	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	361517	124155800	9696095	489	96043											
DNAH10	196385	broad.mit.edu	37	chr12	124265777	124265777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacagtattcaattaataCgggatgaatttttaatgaac	6	5	2	2	rs144283758	by1000genomes	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:124265777C>T	uc001uft.3	+	6	614	c.589C>T	c.(589-591)CGG>TGG	p.R197W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	197	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TCAATTAATACGGGATGAATT	0.403													T	124265777	C	T	124265777	3	4	178	1	0	0	0	0	1	0	0	0	4598	527	19	1	611	1	DNAH10	12	124265777	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	109977	124265777	9586118	490	96044											
TMEM132D	121256	broad.mit.edu	37	chr12	129559011	129559011	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatgcctgcataaggtcattCccatccatttccccattgct	6	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:129559011C>A	uc009zyl.1	-	9	3037	c.2709G>T	c.(2707-2709)GGG>GGT	p.G903G	TMEM132D_uc001uia.2_Silent_p.G441G	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	903	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		TAAGGTCATTCCCATCCATTT	0.507													A	129559011	C	A	129559011	2	1	178	1	0	0	0	0	0	0	0	1	16044	842	30	5		5	TMEM132D	12	129559011	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5293234	129559011	4292884	491	96045											
TMEM132D	121256	broad.mit.edu	37	chr12	129559436	129559436	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgaccagggtgccttgtcCttctgtttccgcagcaatga	10	12	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:129559436C>A	uc009zyl.1	-	9	2612	c.2284G>T	c.(2284-2286)GGA>TGA	p.G762*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.G300*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	762	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		GTGCCTTGTCCTTCTGTTTCC	0.473													A	129559436	C	A	129559436	4	1	178	1	0	0	0	0	0	1	0	0	16044	690	24	5	1019	5	TMEM132D	12	129559436	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	425	129559436	4292459	492	96046											
RIMBP2	23504	broad.mit.edu	37	chr12	130884319	130884319	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcacttcttccaagaAgtttgagggcacaaggcctt	10	10	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:130884319A>T	uc001uil.2	-	18	3201	c.3037T>A	c.(3037-3039)TTC>ATC	p.F1013I		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1013	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		TCTTCCAAGAAGTTTGAGGGC	0.463													T	130884319	A	T	130884319	3	4	178	1	0	0	0	0	1	0	0	0	13363	72	3	5	129	5	RIMBP2	12	130884319	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1324883	130884319	2967576	493	96047											
RIMBP2	23504	broad.mit.edu	37	chr12	130898840	130898840	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggagaaaggcggtctcGcccgtaatcgtctgcgagca	14	11	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:130898840G>A	uc001uil.2	-	14	2646	c.2482C>T	c.(2482-2484)CGA>TGA	p.R828*		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	828						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		AGGCGGTCTCGCCCGTAATCG	0.567													A	130898840	G	A	130898840	4	1	178	1	0	0	0	0	0	1	0	0	13363	1095	38	1	700	1	RIMBP2	12	130898840	Nonsense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	14521	130898840	2953055	494	96048											
EP400	57634	broad.mit.edu	37	chr12	132464315	132464315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtttaagaggcagcaggCgatgccctccacaggtatgg	13	11	0	1	rs111485547		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:132464315C>T	uc001ujn.2	+	2	1447	c.1412C>T	c.(1411-1413)GCG>GTG	p.A471V	EP400_uc001ujl.2_Missense_Mutation_p.A470V|EP400_uc001ujm.2_Missense_Mutation_p.A471V|EP400_uc001ujj.1_Missense_Mutation_p.A470V|EP400_uc001ujk.2_Missense_Mutation_p.A507V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	507					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		AGGCAGCAGGCGATGCCCTCC	0.592													T	132464315	C	T	132464315	3	4	178	1	0	0	0	0	1	0	0	0	5149	768	27	1	1415	1	EP400	12	132464315	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1565475	132464315	1387580	495	96049											
EP400	57634	broad.mit.edu	37	chr12	132471349	132471349	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgctgacagaacaaataacTctggtaagcatgcttaagaa	8	8	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:132471349T>G	uc001ujn.2	+	5	2255	c.2220T>G	c.(2218-2220)ACT>ACG	p.T740T	EP400_uc001ujl.2_Silent_p.T739T|EP400_uc001ujm.2_Silent_p.T740T|EP400_uc001ujj.1_Silent_p.T703T|EP400_uc001ujk.2_Silent_p.T776T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	776					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		AACAAATAACTCTGGTAAGCA	0.463													G	132471349	T	G	132471349	2	3	178	1	0	0	0	0	0	0	0	1	5149	1538	54	5		5	EP400	12	132471349	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	7034	132471349	1380546	496	96050											
EP400	57634	broad.mit.edu	37	chr12	132511986	132511986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttatgcatttgtagttggCgttccgggccgcgtggcggt	15	9	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr12:132511986C>T	uc001ujn.2	+	25	5054	c.5019C>T	c.(5017-5019)GGC>GGT	p.G1673G	EP400_uc001ujl.2_Silent_p.G1672G|EP400_uc001ujm.2_Silent_p.G1592G	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1709					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		TTGTAGTTGGCGTTCCGGGCC	0.567													T	132511986	C	T	132511986	2	4	178	1	0	0	0	0	0	0	0	1	5149	755	27	1		1	EP400	12	132511986	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	40637	132511986	1339909	497	96051											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233283	24233283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcagcgctctggccacCgtcctgctggccctgctcat	10	17	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:24233283C>T	uc001uov.1	+	6	604	c.540C>T	c.(538-540)ACC>ACT	p.T180T	TNFRSF19_uc001uot.2_Silent_p.T180T|TNFRSF19_uc010tcu.1_Silent_p.T48T|TNFRSF19_uc001uow.2_Silent_p.T180T	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	180	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTCTGGCCACCGTCCTGCTGG	0.547													T	24233283	C	T	24233283	2	4	178	1	0	0	0	0	0	0	0	1	16289	639	23	1		1	TNFRSF19	13	24233283	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08		24233283	90936595	498	96052											
SOHLH2	54937	broad.mit.edu	37	chr13	36748962	36748962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctcccttttacatacGgcaagagagtacgcagctgc	8	12	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:36748962G>A	uc001uvj.2	-	7	775	c.686C>T	c.(685-687)CCG>CTG	p.P229L	SOHLH2_uc010tei.1_Missense_Mutation_p.P306L	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	229	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		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)		TTTTACATACGGCAAGAGAGT	0.408													A	36748962	G	A	36748962	3	1	178	1	0	0	0	0	1	0	0	0	14924	1116	39	1	611	1	SOHLH2	13	36748962	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	12515679	36748962	78420916	499	96053											
CCNA1	8900	broad.mit.edu	37	chr13	37012966	37012966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgttctgagagggaaActgcagctcgtaggaacagc	13	8	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:37012966A>G	uc001uvr.3	+	5	1205	c.855A>G	c.(853-855)AAA>AAG	p.K285K	CCNA1_uc010teo.1_Silent_p.K241K|CCNA1_uc010abq.2_Silent_p.K241K|CCNA1_uc010abp.2_Silent_p.K241K|CCNA1_uc001uvs.3_Silent_p.K284K|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	285					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			lung(2)|skin(2)|ovary(1)	5		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)		TGAGAGGGAAACTGCAGCTCG	0.428													G	37012966	A	G	37012966	2	3	178	1	0	0	0	0	0	0	0	1	2909	40	2	3		3	CCNA1	13	37012966	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	264004	37012966	78156912	500	96054											
DGKH	160851	broad.mit.edu	37	chr13	42701682	42701682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcaaacttcgaggccgCaccctttactatgcaaagga	7	12	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:42701682C>T	uc001uyl.1	+	2	297	c.276C>T	c.(274-276)CGC>CGT	p.R92R	DGKH_uc010tfh.1_Silent_p.R92R|DGKH_uc001uym.1_Silent_p.R92R	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	92	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			ovary(2)	2		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)		TTCGAGGCCGCACCCTTTACT	0.413													T	42701682	C	T	42701682	2	4	178	1	0	0	0	0	0	0	0	1	4470	697	25	2		2	DGKH	13	42701682	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5688716	42701682	72468196	501	96055											
AKAP11	11215	broad.mit.edu	37	chr13	42874486	42874486	+	Frame_Shift_Del	DEL	A	A	-													taagcatggaaaccttgatcAaaaaaataaatctaaaaata							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:42874486delA	uc001uys.1	+	8	1779	c.1604delA	c.(1603-1605)CAAfs	p.Q535fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	535					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		AACCTTGATCAAAAAAATAAA	0.289													-	42874486	A	-	42874486	7	5	178	1	0	1	0	1	0	0	0	0	447	130	5	0	1626	0	AKAP11	13	42874486	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	172804	42874486	72295392	502	96056											
CCDC122	160857	broad.mit.edu	37	chr13	44434049	44434049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtcaaatttaagctttAcattttctgaatgtaaggat	6	5	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:44434049A>G	uc010acf.2	-	5	573	c.314T>C	c.(313-315)GTA>GCA	p.V105A	CCDC122_uc010tfn.1_Missense_Mutation_p.V105A	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	105	Potential.										0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTTAAGCTTTACATTTTCTGA	0.294													G	44434049	A	G	44434049	3	3	178	1	0	0	0	0	1	0	0	0	2758	391	14	3	519	3	CCDC122	13	44434049	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1559563	44434049	70735829	503	96057											
PCDH9	5101	broad.mit.edu	37	chr13	67801050	67801050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaggcattcggtccaAgctgataaacaatgtctgca	11	8	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:67801050A>G	uc001vik.2	-	2	2215	c.1523T>C	c.(1522-1524)CTT>CCT	p.L508P	PCDH9_uc001vil.2_Missense_Mutation_p.L508P|PCDH9_uc010thl.1_Missense_Mutation_p.L508P|PCDH9_uc001vin.3_Missense_Mutation_p.L508P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	508	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATTCGGTCCAAGCTGATAAAC	0.413													G	67801050	A	G	67801050	3	3	178	1	0	0	0	0	1	0	0	0	11518	72	3	3	2206	3	PCDH9	13	67801050	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	23367001	67801050	47368828	504	96058											
POU4F1	5457	broad.mit.edu	37	chr13	79175974	79175974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcacgcccagcttgatgCgccgctgcttgaagcgctcc	12	16	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:79175974C>T	uc001vkv.2	-	2	1070	c.836G>A	c.(835-837)CGC>CAC	p.R279H	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	279	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CAGCTTGATGCGCCGCTGCTT	0.677													T	79175974	C	T	79175974	3	4	178	1	0	0	0	0	1	0	0	0	12278	768	27	1	427	1	POU4F1	13	79175974	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	11374924	79175974	35993904	505	96059											
SLITRK5	26050	broad.mit.edu	37	chr13	88328786	88328786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccgcgtgctcttgcaaCctgcagatctctgatctggg	10	15	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:88328786C>A	uc001vln.2	+	2	1362	c.1143C>A	c.(1141-1143)AAC>AAA	p.N381K	SLITRK5_uc010tic.1_Missense_Mutation_p.N140K	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	381	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCTCTTGCAACCTGCAGATCT	0.552													A	88328786	C	A	88328786	3	1	178	1	0	0	0	0	1	0	0	0	14746	506	18	5	1145	5	SLITRK5	13	88328786	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	9152812	88328786	26841092	506	96060											
GPC5	2262	broad.mit.edu	37	chr13	92101092	92101092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagatatcagattgcgGctcgccaggatatgcagcag	14	8	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:92101092G>A	uc010tif.1	+	2	607	c.241G>A	c.(241-243)GCT>ACT	p.A81T		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	81						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCAGATTGCGGCTCGCCAGGA	0.433													A	92101092	G	A	92101092	3	1	178	1	0	0	0	0	1	0	0	0	6601	1203	42	2	247	2	GPC5	13	92101092	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3772306	92101092	23068786	507	96061											
ABCC4	10257	broad.mit.edu	37	chr13	95840745	95840745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgaccacagctaacaattCgccaggtctgacagtaaagg	10	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:95840745C>T	uc001vmd.3	-	10	1434	c.1315G>A	c.(1315-1317)GAA>AAA	p.E439K	ABCC4_uc010afk.2_Missense_Mutation_p.E439K|ABCC4_uc001vme.2_Missense_Mutation_p.E439K|ABCC4_uc010tih.1_Missense_Mutation_p.E364K|ABCC4_uc001vmf.2_Missense_Mutation_p.E396K|ABCC4_uc010afl.1_Missense_Mutation_p.E396K|ABCC4_uc010afm.1_Missense_Mutation_p.E452K	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	439	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCTAACAATTCGCCAGGTCTG	0.453													T	95840745	C	T	95840745	3	4	178	1	0	0	0	0	1	0	0	0	55	893	31	1	2799	1	ABCC4	13	95840745	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3739653	95840745	19329133	508	96062											
FARP1	10160	broad.mit.edu	37	chr13	99037041	99037041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacttagcaaaaaataaatAcatacctcagcaagacgcac	5	11	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:99037041A>G	uc001vnj.2	+	7	890	c.554A>G	c.(553-555)TAC>TGC	p.Y185C	FARP1_uc001vnh.2_Missense_Mutation_p.Y185C	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	185	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAAATAAATACATACCTCAG	0.408													G	99037041	A	G	99037041	3	3	178	1	0	0	0	0	1	0	0	0	5676	391	14	3	799	3	FARP1	13	99037041	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3196296	99037041	16132837	509	96063											
FAM70B	348013	broad.mit.edu	37	chr13	114514859	114514859	+	Frame_Shift_Del	DEL	C	C	-													ttcccccgggggagaagccaCccccctacgcaccctgatag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr13:114514858_114514858AC>A	uc001vuh.3	+	8	990	c.963_963AC>A	c.(961-963)ccafs	p.P321fs		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	321	Pro-rich.					integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GGGAGAAGCCACCCCCCTACG	0.557													-	114514859	C	-	114514859	7	5	178	1	0	1	0	1	0	0	0	0	5606	507	18	0	998	0	FAM70B	13	114514859	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	15477818	114514859	655019	510	96064											
PARP2	10038	broad.mit.edu	37	chr14	20818769	20818769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttcagtgtttggatgAgatggggccgaggtaatgat	16	4	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:20818769A>G	uc001vxc.2	+	5	476	c.448A>G	c.(448-450)AGA>GGA	p.R150G	PARP2_uc001vxd.2_Missense_Mutation_p.R137G|PARP2_uc001vxb.1_Missense_Mutation_p.R150G	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	150					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	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)		TGTTTGGATGAGATGGGGCCG	0.403								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					G	20818769	A	G	20818769	3	3	178	1	0	0	0	0	1	0	0	0	11461	296	11	3	466	3	PARP2	14	20818769	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08		20818769	86530771	511	96065											
TEP1	7011	broad.mit.edu	37	chr14	20841176	20841176	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaccgactcacctgtgcTgtggccacagccttagcttc	9	15	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:20841176T>G	uc001vxe.2	-	48	6985	c.6945A>C	c.(6943-6945)ACA>ACC	p.T2315T	TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Silent_p.T1658T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T2207T|TEP1_uc010tlh.1_Silent_p.T653T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2315	WD 16.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		TCACCTGTGCTGTGGCCACAG	0.532													G	20841176	T	G	20841176	2	3	178	1	0	0	0	0	0	0	0	1	15756	1567	55	5		5	TEP1	14	20841176	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	22407	20841176	86508364	512	96066											
PNP	4860	broad.mit.edu	37	chr14	20942680	20942680	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttcctgaatggcagggcCtgtgtgatgatgcagggcag	18	7	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:20942680C>A	uc001vxo.3	+	3	373	c.231C>A	c.(229-231)GCC>GCA	p.A77A	PNP_uc010ahn.2_Silent_p.A77A|PNP_uc001vxn.3_Translation_Start_Site	NM_000270	NP_000261	P00491	PNPH_HUMAN	nucleoside phosphorylase	77					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			ovary(2)	2					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	ATGGCAGGGCCTGTGTGATGA	0.473													A	20942680	C	A	20942680	2	1	178	1	0	0	0	0	0	0	0	1	12163	668	24	5		5	PNP	14	20942680	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	101504	20942680	86406860	513	96067											
EFS	10278	broad.mit.edu	37	chr14	23829429	23829429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtcaggagagggtgggCaaggtccagctggaggtcct	19	7	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:23829429C>A	uc001wjo.2	-	3	967	c.359G>T	c.(358-360)TGC>TTC	p.C120F	EFS_uc001wjp.2_Missense_Mutation_p.C27F|EFS_uc010tnm.1_Missense_Mutation_p.C27F	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	120	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGAGGGTGGGCAAGGTCCAGC	0.612													A	23829429	C	A	23829429	3	1	178	1	0	0	0	0	1	0	0	0	4959	710	25	5	1342	5	EFS	14	23829429	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2886749	23829429	83520111	514	96068											
MYH6	4624	broad.mit.edu	37	chr14	23874468	23874470	+	In_Frame_Del	DEL	AGA	AGA	-													ataggcgttgtcggagatggAgaagatgtggggcggggcct							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:23874467_23874469GAGA>G	uc001wjv.3	-	4	536_538	c.465_467TCTC>C	c.(463-468)ttctcc>ttCc	p.S156del	MYH6_uc010akp.2_In_Frame_Del_p.S156del	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	156	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	ATP binding|actin binding|actin-dependent ATPase activity|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)		GTCGGAGATGGAGAAGATGTGGG	0.621													-	23874470	AGA	-	23874468	7	5	178	1	0	1	0	1	0	0	0	0	10038	304	11	0	5493	0	MYH6	14	23874468	In_Frame_Del	DEL	AGA	TCGA-CG-4465-01A-01D-1158-08	45039	23874468	83475072	515	96069											
NPAS3	64067	broad.mit.edu	37	chr14	34269602	34269602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcccgtccccgcagggcGgcggcggtgggggtggcggt	20	13	0	0	rs141427321	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:34269602G>A	uc001wru.2	+	12	2153	c.2089G>A	c.(2089-2091)GGC>AGC	p.G697S	NPAS3_uc001wrs.2_Missense_Mutation_p.G684S|NPAS3_uc001wrt.2_Missense_Mutation_p.G665S|NPAS3_uc001wrv.2_Missense_Mutation_p.G667S	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	697	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		CCCGCAGGGCGGCGGCGGTGG	0.572													A	34269602	G	A	34269602	3	1	178	1	0	0	0	0	1	0	0	0	10564	1116	39	1	2190	1	NPAS3	14	34269602	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	10395134	34269602	73079938	516	96070											
SSTR1	6751	broad.mit.edu	37	chr14	38679277	38679277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcgtgttgtacacatTtctcatgggcttcctgctgc	11	11	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:38679277T>C	uc001wul.1	+	3	1300	c.683T>C	c.(682-684)TTT>TCT	p.F228S	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	228	Helical; Name=5; (Potential).				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			central_nervous_system(3)|ovary(1)|lung(1)	5	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)	TTGTACACATTTCTCATGGGC	0.617													C	38679277	T	C	38679277	3	2	178	1	0	0	0	0	1	0	0	0	15196	1841	64	3	685	3	SSTR1	14	38679277	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	4409675	38679277	68670263	517	96071											
MGAT2	4247	broad.mit.edu	37	chr14	50088621	50088621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaattggggtgcatcaAtgctgagtatcccgactcct	10	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:50088621A>G	uc001wwr.2	+	1	1133	c.635A>G	c.(634-636)AAT>AGT	p.N212S	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	212	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)					GGGTGCATCAATGCTGAGTAT	0.493													G	50088621	A	G	50088621	3	3	178	1	0	0	0	0	1	0	0	0	9543	101	4	3	637	3	MGAT2	14	50088621	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	11409344	50088621	57260919	518	96072											
GPR135	64582	broad.mit.edu	37	chr14	59930741	59930741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccggtagccctcctcgcGgttgcgccctaggagcatcg	13	15	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:59930741G>A	uc010apj.2	-	1	1319	c.1204C>T	c.(1204-1206)CGC>TGC	p.R402C	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	402	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CCCTCCTCGCGGTTGCGCCCT	0.632													A	59930741	G	A	59930741	3	1	178	1	0	0	0	0	1	0	0	0	6644	1116	39	1	284	1	GPR135	14	59930741	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	9842120	59930741	47418799	519	96073											
ZFYVE26	23503	broad.mit.edu	37	chr14	68238816	68238816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatactctcagtctcatccGgtacccactggtgcctggca	9	14	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:68238816G>A	uc001xka.2	-	28	5571	c.5432C>T	c.(5431-5433)CCG>CTG	p.P1811L	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.P1811L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1811					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCTCATCCGGTACCCACTG	0.562													A	68238816	G	A	68238816	3	1	178	1	0	0	0	0	1	0	0	0	17665	1116	39	1	2247	1	ZFYVE26	14	68238816	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8308075	68238816	39110724	520	96074											
AHSA1	10598	broad.mit.edu	37	chr14	77935519	77935519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgaggaagagcggaCgcgacagggctggcagcggt	18	10	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:77935519C>T	uc001xtw.2	+	9	1104	c.944C>T	c.(943-945)ACG>ATG	p.T315M		NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	315					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAAGAGCGGACGCGACAGGGC	0.577													T	77935519	C	T	77935519	3	4	178	1	0	0	0	0	1	0	0	0	418	536	19	1	978	1	AHSA1	14	77935519	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	9696703	77935519	29414021	521	96075											
CATSPERB	79820	broad.mit.edu	37	chr14	92058236	92058236	+	Frame_Shift_Del	DEL	T	T	-													gtaattagaaatgatcttacTttttccctgcaatccgagaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:92058236delT	uc001xzs.1	-	23	2960	c.2820delA	c.(2818-2820)AAAfs	p.K940fs	CATSPERB_uc010aub.1_Frame_Shift_Del_p.K462fs	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	940					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATGATCTTACTTTTTCCCTGC	0.348													-	92058236	T	-	92058236	7	5	178	1	0	1	0	1	0	0	0	0	2691	1623	56	0	550	0	CATSPERB	14	92058236	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	14122717	92058236	15291304	522	96076											
KIAA1409	57578	broad.mit.edu	37	chr14	93954017	93954017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttgcagtgggctccTcaaggagagaaggtgtacct	14	7	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:93954017T>C	uc001ybv.1	+	2	180	c.97T>C	c.(97-99)TCA>CCA	p.S33P	KIAA1409_uc001ybs.1_Missense_Mutation_p.S33P|KIAA1409_uc001ybu.1_Missense_Mutation_p.S33P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	210						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AGTGGGCTCCTCAAGGAGAGA	0.408													C	93954017	T	C	93954017	3	2	178	1	0	0	0	0	1	0	0	0	8230	1551	54	3	103	3	KIAA1409	14	93954017	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1895781	93954017	13395523	523	96077											
C14orf177	283598	broad.mit.edu	37	chr14	99182697	99182697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagacataacaagcagcatGccctgacgctcaccaaggcc	8	14	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:99182697G>A	uc001yfz.1	+	3	588	c.169G>A	c.(169-171)GCC>ACC	p.A57T		NM_182560	NP_872366	Q52M58	CN177_HUMAN	hypothetical protein LOC283598	57											0		Melanoma(154;0.128)				CAAGCAGCATGCCCTGACGCT	0.478													A	99182697	G	A	99182697	3	1	178	1	0	0	0	0	1	0	0	0	1760	1319	46	2	171	2	C14orf177	14	99182697	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5228680	99182697	8166843	524	96078											
INF2	64423	broad.mit.edu	37	chr14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-													ctactgccctgcacctgcagCccccccgtggcgggaggcat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		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)		GCACCTGCAGCCCCCCCGTGG	0.562													-	105174185	C	-	105174185	7	5	178	1	0	1	0	1	0	0	0	0	7734	738	26	0	1611	0	INF2	14	105174185	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	5991488	105174185	2175355	525	96079											
HERC2	8924	broad.mit.edu	37	chr15	28473458	28473458	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctgcagggtgagcatgctGagcatcaccaggaggaagcg	16	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:28473458G>A	uc001zbj.2	-	35	5476	c.5370C>T	c.(5368-5370)CTC>CTT	p.L1790L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1790					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		TGAGCATGCTGAGCATCACCA	0.612													A	28473458	G	A	28473458	2	1	178	1	0	0	0	0	0	0	0	1	7058	1277	45	4		4	HERC2	15	28473458	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08		28473458	74057934	526	96080											
CHRNA7	1139	broad.mit.edu	37	chr15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtggcgccgccgcccGccagcaacgggaacctgctg	15	18	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:32460285G>A	uc001zft.2	+	10	1207	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.A198T|CHRNA7_uc010bak.2_Missense_Mutation_p.A294T	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	379	Cytoplasmic (Potential).				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			ovary(1)	1		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)	GCCGCCGCCCGCCAGCAACGG	0.716													A	32460285	G	A	32460285	3	1	178	1	0	0	0	0	1	0	0	0	3388	1087	38	1	1173	1	CHRNA7	15	32460285	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3986827	32460285	70071107	527	96081											
FMN1	342184	broad.mit.edu	37	chr15	33359423	33359423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgtctgaagaccaccGttgccagcttccagtttgct	9	14	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:33359423G>A	uc001zhf.3	-	1	663	c.663C>T	c.(661-663)AAC>AAT	p.N221N	FMN1_uc001zhg.2_Silent_p.N221N	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:Variant_position_missing_in_Q68DA7_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		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)		GAAGACCACCGTTGCCAGCTT	0.527													A	33359423	G	A	33359423	2	1	178	1	0	0	0	0	0	0	0	1	5949	1136	40	1		1	FMN1	15	33359423	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	899138	33359423	69171969	528	96082											
FAM98B	283742	broad.mit.edu	37	chr15	38773701	38773701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaaatgaattgatgaTatcttacttaatgtttttac	7	3	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:38773701T>C	uc001zkb.1	+	7	973	c.938T>C	c.(937-939)ATA>ACA	p.I313T	FAM98B_uc001zkc.2_Intron	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	313						tRNA-splicing ligase complex	protein binding			ovary(1)	1		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GAATTGATGATATCTTACTTA	0.383													C	38773701	T	C	38773701	3	2	178	1	0	0	0	0	1	0	0	0	5657	1406	49	3	964	3	FAM98B	15	38773701	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	5414278	38773701	63757691	529	96083											
MGA	23269	broad.mit.edu	37	chr15	42054516	42054517	+	Frame_Shift_Ins	INS	-	-	G													atgtttataaataacaggagINSggggaaacctttgattcttt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:42054515_42054516A>AG	uc010ucy.2	+	21	7880_7881	c.7699_7700A>AG	c.(7699-7701)aggfs	p.R2567fs	MGA_uc010ucz.2_Frame_Shift_Ins_p.R2358fs|MGA_uc010uda.1_Frame_Shift_Ins_p.R1183fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2528						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)		AAATAACAGGAGGGGGAAACCT	0.406													G	42054517	-	G	42054516	7	5	178	1	0	1	1	0	0	0	0	0	9540	1000	35	0	7782	0	MGA	15	42054516	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	3280815	42054516	60476876	530	96084											
PLA2G4D	283748	broad.mit.edu	37	chr15	42371822	42371822	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcccgcagctccagctcCcggcggtagctcgccaggcg	13	18	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:42371822C>A	uc001zox.2	-	13	1325	c.1230G>T	c.(1228-1230)CGG>CGT	p.R410R		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	410	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		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)		GCTCCAGCTCCCGGCGGTAGC	0.677													A	42371822	C	A	42371822	2	1	178	1	0	0	0	0	0	0	0	1	12004	610	22	5		5	PLA2G4D	15	42371822	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	317306	42371822	60159570	531	96085											
LIPC	3990	broad.mit.edu	37	chr15	58838067	58838067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggcctgagcgtgggcaTcaaacagcccataggacact	12	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:58838067T>C	uc010bga.1	+	7	1309	c.701T>C	c.(700-702)ATC>ACC	p.I234T	LIPC_uc010bfz.1_Missense_Mutation_p.I234T|LIPC_uc002afa.1_Missense_Mutation_p.I234T|LIPC_uc010bgb.1_Missense_Mutation_p.I132T|LIPC_uc010ugy.1_Missense_Mutation_p.I173T	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	234					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AGCGTGGGCATCAAACAGCCC	0.552													C	58838067	T	C	58838067	3	2	178	1	0	0	0	0	1	0	0	0	8820	1435	50	3	719	3	LIPC	15	58838067	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	16466245	58838067	43693325	532	96086											
RNF111	54778	broad.mit.edu	37	chr15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-													tccaggcgggcacatgaacgCcccccaccccatccacatag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:59376342_59376342GC>G	uc002afv.3	+	8	2591	c.2312_2312GC>G	c.(2311-2313)cgcfs	p.R771fs	RNF111_uc002afs.3_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.3_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.3_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.3_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R771C(1)		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)		GCACATGAACGCCCCCCACCC	0.443													-	59376343	C	-	59376343	7	5	178	1	0	1	0	1	0	0	0	0	13425	726	26	0	2343	0	RNF111	15	59376343	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	538276	59376343	43155049	533	96087											
RAB8B	51762	broad.mit.edu	37	chr15	63551864	63551864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaattcttggagacaagCgcaaaatccagtgcaaatgt	8	7	1	1	rs138589907		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:63551864C>T	uc002alz.2	+	6	549	c.453C>T	c.(451-453)AGC>AGT	p.S151S	RAB8B_uc010uih.1_Silent_p.S151S	NM_016530	NP_057614	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	151					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)|kidney(1)	2						TGGAGACAAGCGCAAAATCCA	0.388													T	63551864	C	T	63551864	2	4	178	1	0	0	0	0	0	0	0	1	12957	767	27	1		1	RAB8B	15	63551864	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4175521	63551864	38979528	534	96088											
MAN2C1	4123	broad.mit.edu	37	chr15	75651071	75651071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtagtccatgacGtcccatgcatcccagtacaa	9	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:75651071G>A	uc002baf.2	-	19	2237	c.2220C>T	c.(2218-2220)GAC>GAT	p.D740D	MAN2C1_uc002bag.2_Silent_p.D740D|MAN2C1_uc002bah.2_Silent_p.D757D|MAN2C1_uc010bkk.2_Silent_p.D641D	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	740					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						AGTCCATGACGTCCCATGCAT	0.577													A	75651071	G	A	75651071	2	1	178	1	0	0	0	0	0	0	0	1	9218	1136	40	1		1	MAN2C1	15	75651071	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	12099207	75651071	26880321	535	96089											
FAH	2184	broad.mit.edu	37	chr15	80464493	80464493	+	Splice_Site	DEL	T	T	-													aactctcccccatgtaaggcTttttttgtaggccctggaaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:80464492_80464492CT>C	uc002bfm.2	+	8	771	c.607_splice	c.e8-1	p.A203_splice	FAH_uc002bfn.2_Splice_Site_p.A133_splice	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	203					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTA	0.498									Tyrosinemia, type 1				-	80464493	T	-	80464493	8	5	178	1	0	1	0	1	0	0	1	0	5371	1596	56	0	639	0	FAH	15	80464493	Splice_Site	DEL	T	TCGA-CG-4465-01A-01D-1158-08	4813422	80464493	22066899	536	96090											
TM6SF1	53346	broad.mit.edu	37	chr15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-													ccctgaagaagcaaaaatccTttttttagcattaaacatag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:83805311_83805311CT>C	uc002bjp.3	+	9	1109	c.1000_1000CT>C	c.(1000-1002)cttfs	p.L334fs	TM6SF1_uc010bmq.3_Frame_Shift_Del_p.L303fs|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Frame_Shift_Del_p.L186fs	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	334						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCAAAAATCCTTTTTTTAGC	0.368													-	83805312	T	-	83805312	7	5	178	1	0	1	0	1	0	0	0	0	15969	1609	56	0	1039	0	TM6SF1	15	83805312	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	3340819	83805312	18726080	537	96091											
BNC1	646	broad.mit.edu	37	chr15	83935708	83935708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaggatttttaggcgaacGgggatggcctgggtcccata	15	7	0	0	rs140144251	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:83935708G>A	uc002bjt.1	-	3	403	c.315C>T	c.(313-315)CCC>CCT	p.P105P	BNC1_uc010uos.1_Silent_p.P93P	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	105					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TTAGGCGAACGGGGATGGCCT	0.507													A	83935708	G	A	83935708	2	1	178	1	0	0	0	0	0	0	0	1	1474	1103	39	1		1	BNC1	15	83935708	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	130396	83935708	18595684	538	96092											
ZSCAN2	54993	broad.mit.edu	37	chr15	85165031	85165031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaaatgcctcatgtgCggcaagagcttcagccgggg	12	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:85165031C>T	uc002bkr.2	+	3	1831	c.1605C>T	c.(1603-1605)TGC>TGT	p.C535C	ZSCAN2_uc010bmz.1_Silent_p.C533C|ZSCAN2_uc010bna.2_Silent_p.C385C|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	535	C2H2-type 12.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GCCTCATGTGCGGCAAGAGCT	0.587													T	85165031	C	T	85165031	2	4	178	1	0	0	0	0	0	0	0	1	18228	776	27	1		1	ZSCAN2	15	85165031	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1229323	85165031	17366361	539	96093											
MRPS11	64963	broad.mit.edu	37	chr15	89010975	89010975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgagaaacgcggggtcGcggttcctgcggtcctggac	17	11	0	1	rs2289417	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:89010975G>A	uc002bml.2	+	1	292	c.27G>A	c.(25-27)TCG>TCA	p.S9S	MRPL46_uc002bmi.1_5'Flank|MRPL46_uc002bmj.2_5'Flank|MRPL46_uc002bmk.2_5'Flank|MRPS11_uc002bmm.2_Silent_p.S9S|MRPS11_uc002bmn.2_Silent_p.S9S|MRPS11_uc010bnj.2_RNA	NM_022839	NP_073750	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11 isoform a	9					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ACGCGGGGTCGCGGTTCCTGC	0.627													A	89010975	G	A	89010975	2	1	178	1	0	0	0	0	0	0	0	1	9822	1074	38	1		1	MRPS11	15	89010975	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3845944	89010975	13520417	540	96094											
FANCI	55215	broad.mit.edu	37	chr15	89811680	89811680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaacttcgtcatgtggaagGcaccattattctacacattg	8	9	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:89811680G>T	uc010bnp.1	+	10	896	c.806G>T	c.(805-807)GGC>GTC	p.G269V	FANCI_uc002bnm.1_Missense_Mutation_p.G269V|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.G90V	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	269					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATGTGGAAGGCACCATTATT	0.358								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	89811680	G	T	89811680	3	4	178	1	0	0	0	0	1	0	0	0	5669	1203	42	5	840	5	FANCI	15	89811680	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	800705	89811680	12719712	541	96095											
IQGAP1	8826	broad.mit.edu	37	chr15	91037956	91037956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttacagagtctccaaaaAgcctagggaaatgaaaggaa	9	6	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:91037956A>G	uc002bpl.1	+	36	4741	c.4640A>G	c.(4639-4641)AAG>AGG	p.K1547R	IQGAP1_uc010uqg.1_Missense_Mutation_p.K168R	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1547	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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			GTCTCCAAAAAGCCTAGGGAA	0.363													G	91037956	A	G	91037956	3	3	178	1	0	0	0	0	1	0	0	0	7814	72	3	3	4782	3	IQGAP1	15	91037956	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1226276	91037956	11493436	542	96096											
SYNM	23336	broad.mit.edu	37	chr15	99672605	99672605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcactgtgcacggagaggGctcagcagatgtgcaccagg	16	10	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:99672605G>A	uc002bup.2	+	6	4160	c.4040G>A	c.(4039-4041)GGC>GAC	p.G1347D	SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	1347	Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						CACGGAGAGGGCTCAGCAGAT	0.547													A	99672605	G	A	99672605	3	1	178	1	0	0	0	0	1	0	0	0	15452	1203	42	2	4053	2	SYNM	15	99672605	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8634649	99672605	2858787	543	96097											
ADAMTS17	170691	broad.mit.edu	37	chr15	100649263	100649263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccgtccaggaccctgtcGgccaccagcagtggggactc	13	15	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr15:100649263G>A	uc002bvv.1	-	14	2026	c.1947C>T	c.(1945-1947)GCC>GCT	p.A649A	ADAMTS17_uc002bvx.1_Silent_p.A406A	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	649	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGACCCTGTCGGCCACCAGCA	0.612													A	100649263	G	A	100649263	2	1	178	1	0	0	0	0	0	0	0	1	262	1103	39	1		1	ADAMTS17	15	100649263	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	976658	100649263	1882129	544	96098											
MPG	4350	broad.mit.edu	37	chr16	135493	135493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccctccggaaaggcaccgCcagccgtgtcctcaaggacc	10	18	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:135493C>A	uc002cfn.2	+	5	932	c.614C>A	c.(613-615)GCC>GAC	p.A205D	MPG_uc002cfm.2_Missense_Mutation_p.A188D|MPG_uc002cfo.2_Missense_Mutation_p.A200D|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	205					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AAAGGCACCGCCAGCCGTGTC	0.657								BER_DNA_glycosylases					A	135493	C	A	135493	3	1	178	1	0	0	0	0	1	0	0	0	9724	739	26	5	656	5	MPG	16	135493	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08		135493	90219260	545	96099											
MPG	4350	broad.mit.edu	37	chr16	135720	135720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgcttctatgtccggGgcagcccctgggtcagtgtg	13	15	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:135720G>T	uc002cfn.2	+	5	1159	c.841G>T	c.(841-843)GGC>TGC	p.G281C	MPG_uc002cfm.2_Missense_Mutation_p.G264C|MPG_uc002cfo.2_Missense_Mutation_p.G276C|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	281					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTATGTCCGGGGCAGCCCCTG	0.622								BER_DNA_glycosylases					T	135720	G	T	135720	3	4	178	1	0	0	0	0	1	0	0	0	9724	1232	43	5	883	5	MPG	16	135720	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	227	135720	90219033	546	96100											
PDIA2	64714	broad.mit.edu	37	chr16	335661	335661	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgtcaccgcagcgtcCatcactgctttctgccatgc	9	17	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:335661C>A	uc002cgn.1	+	12	2185	c.1077C>A	c.(1075-1077)TCC>TCA	p.S359S	PDIA2_uc010bqt.1_Silent_p.S204S|PDIA2_uc002cgo.1_Silent_p.S359S	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	359					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			central_nervous_system(1)|skin(1)	2		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)				CCGCAGCGTCCATCACTGCTT	0.582													A	335661	C	A	335661	2	1	178	1	0	0	0	0	0	0	0	1	11668	581	21	5		5	PDIA2	16	335661	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	199941	335661	90019092	547	96101											
RAB40C	57799	broad.mit.edu	37	chr16	677580	677581	+	Frame_Shift_Ins	INS	-	-	C													ccatccgtccaccccagagcINScccccccagaactgctcgcg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:677579_677580G>GC	uc021szt.1	+	6	1025_1026	c.803_804G>GC	c.(802-804)agcfs	p.S268fs	RAB40C_uc021szu.1_Frame_Shift_Ins_p.S268fs|RAB40C_uc021szv.1_Frame_Shift_Ins_p.S268fs|RAB40C_uc002chq.3_Frame_Shift_Ins_p.S249fs|RAB40C_uc002chr.3_Frame_Shift_Ins_p.S268fs|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													C	677581	-	C	677580	7	5	178	1	0	1	1	0	0	0	0	0	12942	738	26	0	826	0	RAB40C	16	677580	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	341919	677580	89677173	548	96102											
TMEM204	79652	broad.mit.edu	37	chr16	1584349	1584349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcaacaacgtggcgGccttcacctccaactgggtg	9	15	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:1584349G>A	uc002cmc.2	+	2	471	c.73G>A	c.(73-75)GCC>ACC	p.A25T	IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.A25T|TMEM204_uc010brr.1_Missense_Mutation_p.A25T	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	transmembrane protein 204	25	Helical; (Potential).				response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)				CAACGTGGCGGCCTTCACCTC	0.692													A	1584349	G	A	1584349	3	1	178	1	0	0	0	0	1	0	0	0	16126	1203	42	2	75	2	TMEM204	16	1584349	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	906769	1584349	88770404	549	96103											
IFT140	9742	broad.mit.edu	37	chr16	1652483	1652483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcttgttaaacaccGtcacttctccagtctcccag	6	15	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:1652483G>A	uc002cmb.2	-	4	619	c.257C>T	c.(256-258)ACG>ATG	p.T86M		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	86	WD 2.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GTTAAACACCGTCACTTCTCC	0.622													A	1652483	G	A	1652483	3	1	178	1	0	0	0	0	1	0	0	0	7556	1145	40	1	4243	1	IFT140	16	1652483	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	68134	1652483	88702270	550	96104											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817877	1817877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagccggctctgggtgGgcaccggcaacggagtggtc	19	12	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:1817877G>T	uc002cmk.2	+	28	3598	c.3478G>T	c.(3478-3480)GGC>TGC	p.G1160C	MAPK8IP3_uc002cml.2_Missense_Mutation_p.G1154C|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.G1161C	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1160					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GCTCTGGGTGGGCACCGGCAA	0.657													T	1817877	G	T	1817877	3	4	178	1	0	0	0	0	1	0	0	0	9286	1232	43	5	3604	5	MAPK8IP3	16	1817877	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	165394	1817877	88536876	551	96105											
PKD1	5310	broad.mit.edu	37	chr16	2164260	2164260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtcacccgcaggctgaGgttggcccggctggcgctgt	16	15	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:2164260G>T	uc002cos.1	-	11	2973	c.2764C>A	c.(2764-2766)CTC>ATC	p.L922I	PKD1_uc002cot.1_Missense_Mutation_p.L922I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	922	Extracellular (Potential).|PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CGCAGGCTGAGGTTGGCCCGG	0.667													T	2164260	G	T	2164260	3	4	178	1	0	0	0	0	1	0	0	0	11963	1000	35	5	10291	5	PKD1	16	2164260	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	346383	2164260	88190493	552	96106											
TRAF7	84231	broad.mit.edu	37	chr16	2225603	2225603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagctacctgtacagcGgctcctaccagacaatcaag	8	15	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:2225603G>A	uc002cow.2	+	17	1705	c.1606G>A	c.(1606-1608)GGC>AGC	p.G536S		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	536	WD 4.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCTGTACAGCGGCTCCTACCA	0.632													A	2225603	G	A	2225603	3	1	178	1	0	0	0	0	1	0	0	0	16443	1116	39	1	1668	1	TRAF7	16	2225603	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	61343	2225603	88129150	553	96107											
CCNF	899	broad.mit.edu	37	chr16	2487152	2487152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtctgatgaggcccgCgcagaagtgaatggcctgaa	14	9	2	5			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:2487152C>T	uc002cqd.1	+	5	457	c.369C>T	c.(367-369)CGC>CGT	p.R123R	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	123					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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				ATGAGGCCCGCGCAGAAGTGA	0.587													T	2487152	C	T	2487152	2	4	178	1	0	0	0	0	0	0	0	1	2922	755	27	1		1	CCNF	16	2487152	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	261549	2487152	87867601	554	96108											
PRSS22	64063	broad.mit.edu	37	chr16	2905627	2905627	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagcagtgggtgtttggaggGaggtggatagaggcatcagg	20	4	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:2905627G>C	uc002cry.1	-	4	573	c.507C>G	c.(505-507)CTC>CTG	p.L169L	PRSS22_uc002crz.1_Intron	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						TGTTTGGAGGGAGGTGGATAG	0.602													C	2905627	G	C	2905627	2	2	178	1	0	0	0	0	0	0	0	1	12619	1161	41	5		5	PRSS22	16	2905627	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	418475	2905627	87449126	555	96109											
ZNF205	7755	broad.mit.edu	37	chr16	3170173	3170173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtggcgtgcggccctaCgcctgcccgttgtgcggcaa	14	16	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:3170173C>T	uc002cub.2	+	7	1647	c.1512C>T	c.(1510-1512)TAC>TAT	p.Y504Y	ZNF205_uc002cua.2_Silent_p.Y504Y	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	504	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TGCGGCCCTACGCCTGCCCGT	0.687													T	3170173	C	T	3170173	2	4	178	1	0	0	0	0	0	0	0	1	17761	547	19	1		1	ZNF205	16	3170173	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	264546	3170173	87184580	556	96110											
ANKS3	124401	broad.mit.edu	37	chr16	4751097	4751097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcatgtaacttttagcTtgtttgcgagctgagctttt	9	7	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:4751097T>G	uc002cxj.1	-	11	1453	c.1158A>C	c.(1156-1158)CAA>CAC	p.Q386H	ANKS3_uc010uxr.1_5'Flank|ANKS3_uc002cxh.1_5'Flank|ANKS3_uc002cxi.1_Missense_Mutation_p.Q313H|ANKS3_uc002cxk.2_Missense_Mutation_p.Q257H|ANKS3_uc002cxl.2_Missense_Mutation_p.Q213H|ANKS3_uc010uxs.1_Missense_Mutation_p.Q313H|ANKS3_uc002cxm.2_Missense_Mutation_p.Q180H	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	386											0						AACTTTTAGCTTGTTTGCGAG	0.552													G	4751097	T	G	4751097	3	3	178	1	0	0	0	0	1	0	0	0	690	1606	56	5	840	5	ANKS3	16	4751097	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1580924	4751097	85603656	557	96111											
ANKS4B	257629	broad.mit.edu	37	chr16	21261872	21261872	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaacggcctcaaagatgatCtgccgtgggatgacgatgaa	12	8	2	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:21261872C>T	uc010bwp.1	+	2	1028	c.985C>T	c.(985-987)CTG>TTG	p.L329L	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	329										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		CAAAGATGATCTGCCGTGGGA	0.522													T	21261872	C	T	21261872	2	4	178	1	0	0	0	0	0	0	0	1	691	912	32	4		4	ANKS4B	16	21261872	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	16510775	21261872	69092881	558	96112											
CACNG3	10368	broad.mit.edu	37	chr16	24372865	24372865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcagcagttacgagccaAatcccactcggagttcctga	8	13	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:24372865A>C	uc002dmf.2	+	4	1829	c.629A>C	c.(628-630)AAA>ACA	p.K210T		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	210					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				0				GBM - Glioblastoma multiforme(48;0.0809)		TTACGAGCCAAATCCCACTCG	0.498													C	24372865	A	C	24372865	3	2	178	1	0	0	0	0	1	0	0	0	2558	14	1	5	643	5	CACNG3	16	24372865	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3110993	24372865	65981888	559	96113											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251408	25251408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccccagtgtgaactctcCggtgggcgctgaaatgagaa	12	11	2	3	rs61742943	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:25251408C>T	uc002dod.3	-	7	3040	c.2633G>A	c.(2632-2634)CGG>CAG	p.R878Q	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R674Q	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	878	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GTGAACTCTCCGGTGGGCGCT	0.453													T	25251408	C	T	25251408	3	4	178	1	0	0	0	0	1	0	0	0	17684	652	23	1	274	1	ZKSCAN2	16	25251408	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	878543	25251408	65103345	560	96114											
ATXN2L	11273	broad.mit.edu	37	chr16	28837682	28837682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcatgcttgttcacttccGaaatgttgacttcaactatg	7	9	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:28837682G>A	uc002drc.2	+	5	755	c.587G>A	c.(586-588)CGA>CAA	p.R196Q	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.R196Q|ATXN2L_uc002drb.2_Missense_Mutation_p.R196Q|ATXN2L_uc002dqy.2_Missense_Mutation_p.R196Q|ATXN2L_uc002dra.2_Missense_Mutation_p.R196Q|ATXN2L_uc002dqz.2_Missense_Mutation_p.R196Q|ATXN2L_uc010vdb.1_Missense_Mutation_p.R196Q|ATXN2L_uc002dre.2_Missense_Mutation_p.R196Q|ATXN2L_uc002drf.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	196						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GTTCACTTCCGAAATGTTGAC	0.502													A	28837682	G	A	28837682	3	1	178	1	0	0	0	0	1	0	0	0	1212	1058	37	1	605	1	ATXN2L	16	28837682	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3586274	28837682	61517071	561	96115											
NFATC2IP	84901	broad.mit.edu	37	chr16	28970422	28970422	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaagtctcactgtctcgaGtgagtgggagagatggctct	15	7	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:28970422G>C	uc002dru.2	+	7	1116	c.1101_splice	c.e7+1	p.R367_splice	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Splice_Site_p.R88_splice|NFATC2IP_uc002drv.2_Splice_Site_p.R86_splice|NFATC2IP_uc010vdh.1_Splice_Site_p.R75_splice	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,							cytoplasm|nucleus				ovary(1)	1						ACTGTCTCGAGTGAGTGGGAG	0.542													C	28970422	G	C	28970422	5	2	178	1	0	0	0	0	0	0	1	0	10363	1043	36	5	1128	5	NFATC2IP	16	28970422	Splice_Site	SNP	G	TCGA-CG-4465-01A-01D-1158-08	132740	28970422	61384331	562	96116											
ASPHD1	253982	broad.mit.edu	37	chr16	29913005	29913005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggactacccctccgcCtcggggctggtccccacctc	10	20	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:29913005C>T	uc002dut.2	+	1	859	c.713C>T	c.(712-714)CCT>CTT	p.P238L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	238	Lumenal (Potential).				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				0						ACCCCTCCGCCTCGGGGCTGG	0.701													T	29913005	C	T	29913005	3	4	178	1	0	0	0	0	1	0	0	0	1054	681	24	4	715	4	ASPHD1	16	29913005	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	942583	29913005	60441748	563	96117											
TBX6	6911	broad.mit.edu	37	chr16	30097645	30097645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcggggcaaagggtacCgccggtggagccgctgggta	19	9	0	0	rs140493598		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:30097645C>T	uc010veh.1	-	9	1272	c.1212G>A	c.(1210-1212)GCG>GCA	p.A404A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	404					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CAAAGGGTACCGCCGGTGGAG	0.667													T	30097645	C	T	30097645	2	4	178	1	0	0	0	0	0	0	0	1	15659	639	23	1		1	TBX6	16	30097645	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	184640	30097645	60257108	564	96118											
ADCY7	113	broad.mit.edu	37	chr16	50339707	50339707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccctgctgctccaagtccGatgacttctacacctttggg	10	14	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:50339707G>A	uc002egd.1	+	13	1967	c.1699G>A	c.(1699-1701)GAT>AAT	p.D567N	ADCY7_uc002egc.1_Missense_Mutation_p.D567N	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	567	Cytoplasmic (Potential).				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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTCCAAGTCCGATGACTTCTA	0.667													A	50339707	G	A	50339707	3	1	178	1	0	0	0	0	1	0	0	0	299	1058	37	1	1749	1	ADCY7	16	50339707	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	20242062	50339707	40015046	565	96119											
CYLD	1540	broad.mit.edu	37	chr16	50826572	50826572	+	Frame_Shift_Del	DEL	T	T	-													ctttaaactatttaaaaaaaTttttccttctctggaattaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:50826572delT	uc002egp.1	+	16	2721	c.2306delT	c.(2305-2307)ATTfs	p.I769fs	CYLD_uc010cbs.1_Frame_Shift_Del_p.I766fs|CYLD_uc002egq.1_Frame_Shift_Del_p.I766fs|CYLD_uc002egr.1_Frame_Shift_Del_p.I766fs	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	769					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	p.I769fs*7(1)		skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				TTTAAAAAAATTTTTCCTTCT	0.274			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				-	50826572	T	-	50826572	7	5	178	1	0	1	0	1	0	0	0	0	4143	1493	52	0	2360	0	CYLD	16	50826572	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	486865	50826572	39528181	566	96120											
NLRC5	84166	broad.mit.edu	37	chr16	57060176	57060176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgactcagctctatatgCagatggtgctcgccctcagc	9	13	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:57060176C>T	uc002ekk.1	+	6	1546	c.1321C>T	c.(1321-1323)CAG>TAG	p.Q441*	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Nonsense_Mutation_p.Q246*|NLRC5_uc002ekl.2_Nonsense_Mutation_p.Q246*|NLRC5_uc002ekm.2_Nonsense_Mutation_p.Q246*|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	441	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GCTCTATATGCAGATGGTGCT	0.637													T	57060176	C	T	57060176	4	4	178	1	0	0	0	0	0	1	0	0	10470	711	25	2	1335	2	NLRC5	16	57060176	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6233604	57060176	33294577	567	96121											
NLRC5	84166	broad.mit.edu	37	chr16	57060249	57060249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgggggaggtggcccTgaggggcctggagacaggga	22	8	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:57060249T>C	uc002ekk.1	+	6	1619	c.1394T>C	c.(1393-1395)CTG>CCG	p.L465P	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.L270P|NLRC5_uc002ekl.2_Missense_Mutation_p.L270P|NLRC5_uc002ekm.2_Missense_Mutation_p.L270P|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	465	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GAGGTGGCCCTGAGGGGCCTG	0.582													C	57060249	T	C	57060249	3	2	178	1	0	0	0	0	1	0	0	0	10470	1580	55	3	1408	3	NLRC5	16	57060249	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	73	57060249	33294504	568	96122											
CNOT1	23019	broad.mit.edu	37	chr16	58557362	58557362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgagtgtggctatttgGgtaccggagctgatttgcaa	15	5	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:58557362G>T	uc002env.2	-	47	7122	c.6829C>A	c.(6829-6831)CCA>ACA	p.P2277T	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P2272T|CNOT1_uc002ent.2_Missense_Mutation_p.P215T|CNOT1_uc010vik.1_Missense_Mutation_p.P1234T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2277					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTATTTGGGTACCGGAGC	0.448													T	58557362	G	T	58557362	3	4	178	1	0	0	0	0	1	0	0	0	3617	1232	43	5	313	5	CNOT1	16	58557362	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1497113	58557362	31797391	569	96123											
CES2	8824	broad.mit.edu	37	chr16	66976054	66976054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggaggagtacattgGggacaatggggatccccaga	17	7	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:66976054G>A	uc002eqr.2	+	9	2376	c.1376G>A	c.(1375-1377)GGG>GAG	p.G459E	CES2_uc002eqq.2_Missense_Mutation_p.G459E|CES2_uc002eqs.2_Missense_Mutation_p.G302E	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	395					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GAGTACATTGGGGACAATGGG	0.552													A	66976054	G	A	66976054	3	1	178	1	0	0	0	0	1	0	0	0	3270	1232	43	4	1410	4	CES2	16	66976054	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	8418692	66976054	23378699	570	96124											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214239	67214239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagggtgccacgccccCgccggccagtactatttaca	10	17	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:67214239C>T	uc002ert.2	-	2	1050	c.275G>A	c.(274-276)CGG>CAG	p.R92Q	KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.R92Q|EXOC3L_uc002erv.1_RNA	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	92											0						GCCACGCCCCCGCCGGCCAGT	0.667													T	67214239	C	T	67214239	3	4	178	1	0	0	0	0	1	0	0	0	8198	652	23	1	1164	1	KIAA0895L	16	67214239	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	238185	67214239	23140514	571	96125											
SLC9A5	6553	broad.mit.edu	37	chr16	67292327	67292327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actacaggcttaacatccggGatgccatcagctttgtggac	10	11	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:67292327G>A	uc002esm.2	+	10	1666	c.1603G>A	c.(1603-1605)GAT>AAT	p.D535N	SLC9A5_uc010cee.2_Missense_Mutation_p.D240N|SLC9A5_uc010vji.1_Missense_Mutation_p.D39N	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	535					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TAACATCCGGGATGCCATCAG	0.577													A	67292327	G	A	67292327	3	1	178	1	0	0	0	0	1	0	0	0	14717	1174	41	4	1641	4	SLC9A5	16	67292327	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	78088	67292327	23062426	572	96126											
ST3GAL2	6483	broad.mit.edu	37	chr16	70422378	70422378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttcttggcactctcaGggtacatgaaatggtgggtg	15	7	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:70422378G>T	uc002eyw.2	-	3	2713	c.605C>A	c.(604-606)CCT>CAT	p.P202H	ST3GAL2_uc002eyx.2_Missense_Mutation_p.P202H	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	202	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GGCACTCTCAGGGTACATGAA	0.592													T	70422378	G	T	70422378	3	4	178	1	0	0	0	0	1	0	0	0	15214	1000	35	5	463	5	ST3GAL2	16	70422378	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3130051	70422378	19932375	573	96127											
KLHL36	79786	broad.mit.edu	37	chr16	84690684	84690684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaggtggagctgatcGgcgcctcctacattgggctc	15	10	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:84690684G>A	uc002fig.2	+	3	412	c.271G>A	c.(271-273)GGC>AGC	p.G91S	KLHL36_uc010chl.2_Missense_Mutation_p.G90S	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	91	BTB.									skin(2)	2						GGAGCTGATCGGCGCCTCCTA	0.612													A	84690684	G	A	84690684	3	1	178	1	0	0	0	0	1	0	0	0	8389	1116	39	1	277	1	KLHL36	16	84690684	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	14268306	84690684	5664069	574	96128											
ZC3H18	124245	broad.mit.edu	37	chr16	88666204	88666204	+	Frame_Shift_Del	DEL	A	A	-													ttcttacaatggtaggttttAaaaaaagcaactattcgaaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:88666204delA	uc002fky.2	+	6	1136	c.936delA	c.(934-936)TTAfs	p.L312fs	ZC3H18_uc010voy.1_Frame_Shift_Del_p.L195fs|ZC3H18_uc010voz.1_Frame_Shift_Del_p.L336fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	312						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGTAGGTTTTAAAAAAAGCAA	0.448													-	88666204	A	-	88666204	7	5	178	1	0	1	0	1	0	0	0	0	17565	359	13	0	954	0	ZC3H18	16	88666204	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	3975520	88666204	1688549	575	96129											
SNAI3	333929	broad.mit.edu	37	chr16	88748098	88748098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaccaccagccccccaCaggcagagcaggcaccattg	12	17	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:88748098C>T	uc002flj.2	-	2	169	c.101G>A	c.(100-102)TGT>TAT	p.C34Y	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	34					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		CAGCCCCCCACAGGCAGAGCA	0.612													T	88748098	C	T	88748098	3	4	178	1	0	0	0	0	1	0	0	0	14828	478	17	4	785	4	SNAI3	16	88748098	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	81894	88748098	1606655	576	96130											
ACSF3	197322	broad.mit.edu	37	chr16	89167698	89167698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgatcatctacaccagTgggaccacggggaggcccaa	12	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr16:89167698T>C	uc002fmp.2	+	3	949	c.609T>C	c.(607-609)AGT>AGC	p.S203S	ACSF3_uc010cig.1_Silent_p.S203S|ACSF3_uc010cih.1_Intron|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'Flank	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	203	ATP (By similarity).				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TCTACACCAGTGGGACCACGG	0.627													C	89167698	T	C	89167698	2	2	178	1	0	0	0	0	0	0	0	1	176	1693	59	3		3	ACSF3	16	89167698	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	419600	89167698	1187055	577	96131											
ABR	29	broad.mit.edu	37	chr17	914045	914045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggaagtacagcttgagCgtcccggcgatggcgttgat	14	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:914045C>T	uc002fsd.2	-	20	2270	c.2160G>A	c.(2158-2160)ACG>ACA	p.T720T	ABR_uc002fse.2_Silent_p.T674T|ABR_uc010vqf.1_Silent_p.T171T|ABR_uc010vqg.1_Silent_p.T502T|ABR_uc002fsg.2_Silent_p.T683T|ABR_uc002fsh.1_Silent_p.T328T|ABR_uc002fsf.2_Silent_p.T257T	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	720	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			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAGCTTGAGCGTCCCGGCGA	0.627													T	914045	C	T	914045	2	4	178	1	0	0	0	0	0	0	0	1	99	755	27	1		1	ABR	17	914045	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08		914045	80281165	578	96132											
TRPV1	7442	broad.mit.edu	37	chr17	3494385	3494385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgagcatggctttcagCagacaggtcttccctgtctc	11	11	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:3494385C>T	uc010vrr.1	-	3	1004	c.477G>A	c.(475-477)CTG>CTA	p.L159L	TRPV1_uc010vro.1_Silent_p.L159L|TRPV1_uc010vrp.1_Silent_p.L159L|TRPV1_uc010vrq.1_Silent_p.L157L|TRPV1_uc010vrs.1_Silent_p.L159L|TRPV1_uc010vrt.1_Silent_p.L159L|TRPV1_uc010vru.1_Silent_p.L159L	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	159	Cytoplasmic (Potential).|ANK 2.				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			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGGCTTTCAGCAGACAGGTCT	0.632													T	3494385	C	T	3494385	2	4	178	1	0	0	0	0	0	0	0	1	16592	697	25	2		2	TRPV1	17	3494385	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2580340	3494385	77700825	579	96133											
KIF1C	10749	broad.mit.edu	37	chr17	4905816	4905816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctcttgaaccccaagagtCggggttctctgcgggtccgg	13	13	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:4905816C>T	uc002gan.1	+	7	813	c.487C>T	c.(487-489)CGG>TGG	p.R163W		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	163	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						CCCCAAGAGTCGGGGTTCTCT	0.537													T	4905816	C	T	4905816	3	4	178	1	0	0	0	0	1	0	0	0	8285	875	31	1	505	1	KIF1C	17	4905816	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1411431	4905816	76289394	580	96134											
ZFP3	124961	broad.mit.edu	37	chr17	4995923	4995923	+	Frame_Shift_Del	DEL	G	G	-													ggaatgtgggaaggccttcaGggggaactcagaacttctta							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:4995922_4995922AG>A	uc002gaq.3	+	1	1248	c.1123_1123AG>A	c.(1123-1125)aggfs	p.R375fs	ZFP3_uc021tog.1_Frame_Shift_Del_p.R375fs	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	375					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						GAAGGCCTTCAGGGGGAACTC	0.438													-	4995923	G	-	4995923	7	5	178	1	0	1	0	1	0	0	0	0	17640	1000	35	0	1126	0	ZFP3	17	4995923	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	90107	4995923	76199287	581	96135											
DHX33	56919	broad.mit.edu	37	chr17	5364373	5364373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggtagaggacgggggcGccattgaaatactgagagaa	15	6	1	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:5364373G>A	uc002gca.2	-	4	737	c.735C>T	c.(733-735)GGC>GGT	p.G245G	DHX33_uc002gbz.2_Silent_p.G16G|DHX33_uc002gcb.2_Silent_p.G72G|DHX33_uc010clf.2_Intron	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	245	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						GGACGGGGGCGCCATTGAAAT	0.517													A	5364373	G	A	5364373	2	1	178	1	0	0	0	0	0	0	0	1	4506	1074	38	1		1	DHX33	17	5364373	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	368450	5364373	75830837	582	96136											
YBX2	51087	broad.mit.edu	37	chr17	7193637	7193637	+	Frame_Shift_Del	DEL	G	G	-													gccgtcggtagaagaagggtGgggggcaccatcgtcggggc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:7193636_7193636TG>T	uc002gfq.2	-	4	735	c.678_678CA>A	c.(676-678)ccafs	p.P226fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	226	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						AGAAGAAGGGTGGGGGGCACC	0.657													-	7193637	G	-	7193637	7	5	178	1	0	1	0	1	0	0	0	0	17467	1348	47	0	433	0	YBX2	17	7193637	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	1829264	7193637	74001573	583	96137											
ACAP1	9744	broad.mit.edu	37	chr17	7246726	7246726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttccgagaggctcgcCgggatttctggcggggggct	20	9	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:7246726C>T	uc002ggd.2	+	6	579	c.373C>T	c.(373-375)CGG>TGG	p.R125W		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	125	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						AGAGGCTCGCCGGGATTTCTG	0.637													T	7246726	C	T	7246726	3	4	178	1	0	0	0	0	1	0	0	0	118	643	23	1	395	1	ACAP1	17	7246726	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	53089	7246726	73948484	584	96138											
DNAH9	1770	broad.mit.edu	37	chr17	11607574	11607574	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtgggcatggcatttGccaggctggaggaaggctat	16	7	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:11607574G>T	uc002gne.2	+	25	5274	c.5206G>T	c.(5206-5208)GCC>TCC	p.A1736S	DNAH9_uc010coo.2_Missense_Mutation_p.A1030S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1736	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		CATGGCATTTGCCAGGCTGGA	0.507													T	11607574	G	T	11607574	3	4	178	1	0	0	0	0	1	0	0	0	4608	1319	46	5	5304	5	DNAH9	17	11607574	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4360848	11607574	69587636	585	96139											
DNAH9	1770	broad.mit.edu	37	chr17	11671900	11671900	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcgagccttggtccaAgctcgtcccccagttcgaat	9	13	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:11671900A>T	uc002gne.2	+	37	7369	c.7301A>T	c.(7300-7302)AAG>ATG	p.K2434M	DNAH9_uc010coo.2_Missense_Mutation_p.K1728M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2434					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		CCTTGGTCCAAGCTCGTCCCC	0.532													T	11671900	A	T	11671900	3	4	178	1	0	0	0	0	1	0	0	0	4608	72	3	5	7447	5	DNAH9	17	11671900	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	64326	11671900	69523310	586	96140											
TTC19	54902	broad.mit.edu	37	chr17	15902817	15902817	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatggcgcagccacacacGacctcggtcccgtacttcgc	9	19	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:15902817G>A	uc002gph.1	+	1	36	c.18G>A	c.(16-18)ACG>ACA	p.T6T	ZSWIM7_uc002gpe.2_Intron|ZSWIM7_uc002gpf.2_Intron|ZSWIM7_uc002gpg.2_Intron|TTC19_uc010cox.1_RNA	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	Error:Variant_position_missing_in_Q6DKK2_after_alignment					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGCCACACACGACCTCGGTCC	0.731													A	15902817	G	A	15902817	2	1	178	1	0	0	0	0	0	0	0	1	16683	1045	37	1		1	TTC19	17	15902817	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	4230917	15902817	65292393	587	96141											
MPRIP	23164	broad.mit.edu	37	chr17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-													acaggacttcaccaatgaagCccccccagctcctctcccag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:17046885_17046885GC>G	uc002gqv.2	+	8	1140	c.1051_1051GC>G	c.(1051-1053)gccfs	p.A351fs	MPRIP_uc002gqu.2_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.2_Intron	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	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						CACCAATGAAGCCCCCCCAGC	0.647													-	17046886	C	-	17046886	7	5	178	1	0	1	0	1	0	0	0	0	9743	739	26	0	1086	0	MPRIP	17	17046886	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	1144069	17046886	64148324	588	96142											
FLII	2314	broad.mit.edu	37	chr17	18154278	18154278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcgagtgtggcctccccGccaatccagtagtagatctc	10	13	1	1	rs144125005		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:18154278G>A	uc002gsr.1	-	14	1701	c.1650C>T	c.(1648-1650)GGC>GGT	p.G550G	FLII_uc002gsq.1_Silent_p.G421G|FLII_uc010cpy.1_Silent_p.G539G|FLII_uc010vxn.1_Silent_p.G519G|FLII_uc010vxo.1_Silent_p.G495G|FLII_uc002gss.1_Silent_p.G549G	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	550	Interaction with ACTL6A.|Gelsolin-like 1.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TGGCCTCCCCGCCAATCCAGT	0.587													A	18154278	G	A	18154278	2	1	178	1	0	0	0	0	0	0	0	1	5925	1074	38	1		1	FLII	17	18154278	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1107392	18154278	63040932	589	96143											
FLII	2314	broad.mit.edu	37	chr17	18154776	18154776	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccttcccgctgggggcccGggcatctgcgctctcctggg	14	17	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:18154776G>C	uc002gsr.1	-	13	1450	c.1399C>G	c.(1399-1401)CGG>GGG	p.R467G	FLII_uc002gsq.1_Missense_Mutation_p.R338G|FLII_uc010cpy.1_Missense_Mutation_p.R456G|FLII_uc010vxn.1_Missense_Mutation_p.R436G|FLII_uc010vxo.1_Missense_Mutation_p.R412G|FLII_uc002gss.1_Missense_Mutation_p.R466G	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	467					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					CTGGGGGCCCGGGCATCTGCG	0.607													C	18154776	G	C	18154776	3	2	178	1	0	0	0	0	1	0	0	0	5925	1115	39	5	2482	5	FLII	17	18154776	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	498	18154776	63040434	590	96144											
KIAA0100	9703	broad.mit.edu	37	chr17	26966334	26966334	+	Splice_Site	DEL	T	T	-													tgaaaaagatcagactgaccTttttttcctttgctttagaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						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)					TCAGACTGACCTTTTTTTCCT	0.433													-	26966334	T	-	26966334	8	5	178	1	0	1	0	1	0	0	1	0	8154	1623	56	0	5595	0	KIAA0100	17	26966334	Splice_Site	DEL	T	TCGA-CG-4465-01A-01D-1158-08	8811558	26966334	54228876	591	96145											
C17orf75	64149	broad.mit.edu	37	chr17	30665238	30665238	+	Frame_Shift_Del	DEL	T	T	-													aaaggatatagctcaagtccTttttcagaccctcctaaaaa							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:30665238delT	uc002hhg.2	-	4	511	c.480delA	c.(478-480)AAAfs	p.K160fs		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	160					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCAAGTCCTTTTTCAGACC	0.393													-	30665238	T	-	30665238	7	5	178	1	0	1	0	1	0	0	0	0	1880	1606	56	0	738	0	C17orf75	17	30665238	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	3698904	30665238	50529972	592	96146											
SOCS7	30837	broad.mit.edu	37	chr17	36522218	36522218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgaatccctgcacaGccaacccccacagcacctcc	6	20	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:36522218G>A	uc002hqa.2	+	5	1232	c.1109G>A	c.(1108-1110)AGC>AAC	p.S370N	SOCS7_uc010cvl.2_Missense_Mutation_p.S336N|SOCS7_uc002hqb.2_RNA	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	370	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					TCCCTGCACAGCCAACCCCCA	0.582													A	36522218	G	A	36522218	3	1	178	1	0	0	0	0	1	0	0	0	14919	971	34	2	1127	2	SOCS7	17	36522218	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	5856980	36522218	44672992	593	96147											
FKBP10	60681	broad.mit.edu	37	chr17	39974510	39974510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaatggcaccctgctggaCggcacctccttcgacaccag	9	16	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:39974510C>T	uc002hxv.2	+	3	886	c.561C>T	c.(559-561)GAC>GAT	p.D187D	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	187	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCCTGCTGGACGGCACCTCCT	0.682													T	39974510	C	T	39974510	2	4	178	1	0	0	0	0	0	0	0	1	5902	535	19	1		1	FKBP10	17	39974510	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	3452292	39974510	41220700	594	96148											
STAT3	6774	broad.mit.edu	37	chr17	40474420	40474420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccaggatattggtagcatCcatgatcttatagcccatga	8	10	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:40474420C>A	uc002hzl.1	-	21	2221	c.1981G>T	c.(1981-1983)GAT>TAT	p.D661Y	STAT3_uc002hzk.1_Missense_Mutation_p.D661Y|STAT3_uc002hzm.1_Missense_Mutation_p.D661Y|STAT3_uc010wgh.1_Missense_Mutation_p.D563Y|STAT3_uc002hzn.1_Missense_Mutation_p.D661Y	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	661	SH2.				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			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTGGTAGCATCCATGATCTTA	0.483									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				A	40474420	C	A	40474420	3	1	178	1	0	0	0	0	1	0	0	0	15265	855	30	5	347	5	STAT3	17	40474420	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	499910	40474420	40720790	595	96149											
MPP2	4355	broad.mit.edu	37	chr17	41955297	41955297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggtcaaagtagtgccCgtagccccgctggatgcggc	15	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:41955297C>T	uc010wip.1	-	13	1729	c.1672G>A	c.(1672-1674)GGG>AGG	p.G558R	MPP2_uc002ien.1_Missense_Mutation_p.G530R|MPP2_uc010wim.1_Missense_Mutation_p.G502R|MPP2_uc002ieo.1_Missense_Mutation_p.G513R|MPP2_uc010win.1_Missense_Mutation_p.G374R|MPP2_uc010wio.1_Missense_Mutation_p.G502R	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	537	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AAGTAGTGCCCGTAGCCCCGC	0.627													T	41955297	C	T	41955297	3	4	178	1	0	0	0	0	1	0	0	0	9734	652	23	1	125	1	MPP2	17	41955297	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1480877	41955297	39239913	596	96150											
FMNL1	752	broad.mit.edu	37	chr17	43322382	43322382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactgatcgcaagcagacgCtgctgcactacctggtgaag	12	12	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:43322382C>T	uc002iin.2	+	21	2835	c.2635C>T	c.(2635-2637)CTG>TTG	p.L879L	FMNL1_uc002iiq.2_Silent_p.L457L|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	879	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						CAAGCAGACGCTGCTGCACTA	0.592													T	43322382	C	T	43322382	2	4	178	1	0	0	0	0	0	0	0	1	5951	796	28	2		2	FMNL1	17	43322382	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1367085	43322382	37872828	597	96151											
GOSR2	9570	broad.mit.edu	37	chr17	45016026	45016026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtccaacacagtgatgcGgctcatcgagaagcgggctt	12	11	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:45016026G>A	uc002ila.2	+	6	612	c.539G>A	c.(538-540)CGG>CAG	p.R180Q	GOSR2_uc010wkh.1_Missense_Mutation_p.R180Q|GOSR2_uc002ikz.2_Missense_Mutation_p.R180Q	NM_004287	NP_004278	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2 isoform A	180	Cytoplasmic (Potential).				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(9;0.102)			ACAGTGATGCGGCTCATCGAG	0.493													A	45016026	G	A	45016026	3	1	178	1	0	0	0	0	1	0	0	0	6578	1116	39	1	672	1	GOSR2	17	45016026	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1693644	45016026	36179184	598	96152											
KPNB1	3837	broad.mit.edu	37	chr17	45754442	45754442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgccctgcaatccaaCatcatacctttctgtgacga	7	14	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:45754442C>A	uc002ilt.1	+	17	2388	c.2052C>A	c.(2050-2052)AAC>AAA	p.N684K	KPNB1_uc010wkw.1_Missense_Mutation_p.N539K|KPNB1_uc010wkx.1_Missense_Mutation_p.N468K	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	684					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TGCAATCCAACATCATACCTT	0.448													A	45754442	C	A	45754442	3	1	178	1	0	0	0	0	1	0	0	0	8435	477	17	5	2118	5	KPNB1	17	45754442	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	738416	45754442	35440768	599	96153											
SNX11	29916	broad.mit.edu	37	chr17	46189428	46189428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcttttggtgtaggatgtCggagaaccaagaacaggagg	17	5	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:46189428C>T	uc002inf.1	+	3	377	c.23C>T	c.(22-24)TCG>TTG	p.S8L	SNX11_uc010wlg.1_5'UTR|SNX11_uc010wlh.1_5'UTR|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.S8L|SNX11_uc002inh.1_Missense_Mutation_p.S8L	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	8					cell communication|protein transport	membrane	phosphatidylinositol binding				0						TGTAGGATGTCGGAGAACCAA	0.448													T	46189428	C	T	46189428	3	4	178	1	0	0	0	0	1	0	0	0	14882	893	31	1	25	1	SNX11	17	46189428	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	434986	46189428	35005782	600	96154											
HOXB3	3213	broad.mit.edu	37	chr17	46627925	46627925	+	Frame_Shift_Del	DEL	C	C	-													gcagcggatccgcgtagccgCccccgcccacgtacaccgga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:46627925delC	uc002inn.2	-	2	1467	c.1067delG	c.(1066-1068)GGCfs	p.G356fs	HOXB3_uc010wlm.1_Frame_Shift_Del_p.G283fs|HOXB3_uc010dbf.2_Frame_Shift_Del_p.G356fs|HOXB3_uc010dbg.2_Frame_Shift_Del_p.G356fs|HOXB3_uc002ino.2_Frame_Shift_Del_p.G356fs|HOXB3_uc010wlk.1_Frame_Shift_Del_p.G224fs|HOXB3_uc010wll.1_Frame_Shift_Del_p.G283fs	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	356					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCGTAGCCGCCCCCGCCCAC	0.716											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	46627925	C	-	46627925	7	5	178	1	0	1	0	1	0	0	0	0	7302	739	26	0	232	0	HOXB3	17	46627925	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	438497	46627925	34567285	601	96155											
HOXB3	3213	broad.mit.edu	37	chr17	46628177	46628177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgttcatgaagccggccGtggactgcatgggctgcggg	18	10	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:46628177G>A	uc002inn.2	-	2	1215	c.815C>T	c.(814-816)ACG>ATG	p.T272M	HOXB3_uc010wlm.1_Missense_Mutation_p.T199M|HOXB3_uc010dbf.2_Missense_Mutation_p.T272M|HOXB3_uc010dbg.2_Missense_Mutation_p.T272M|HOXB3_uc002ino.2_Missense_Mutation_p.T272M|HOXB3_uc010wlk.1_Missense_Mutation_p.T140M|HOXB3_uc010wll.1_Missense_Mutation_p.T199M	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	272					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAAGCCGGCCGTGGACTGCAT	0.662											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46628177	G	A	46628177	3	1	178	1	0	0	0	0	1	0	0	0	7302	1145	40	1	484	1	HOXB3	17	46628177	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	252	46628177	34567033	602	96156											
ITGA3	3675	broad.mit.edu	37	chr17	48154743	48154744	+	Splice_Site	INS	-	-	C													attcgccttctttcctcagcINSccggggcctgccaagctaat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:48154742_48154743G>GC	uc010dbm.3	+	16	2535	c.2071_splice	c.e16-1	p.P691_splice	ITGA3_uc010dbl.3_Splice_Site_p.P691_splice	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	691					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						TCTTTCCTCAGCCCGGGGCCTG	0.589													C	48154744	-	C	48154743	8	5	178	1	0	1	1	0	0	0	1	0	7877	753	26	0	2133	0	ITGA3	17	48154743	Splice_Site	INS	-	TCGA-CG-4465-01A-01D-1158-08	1526566	48154743	33040467	603	96157											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	178	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	8280418	56435161	24760049	604	96158											
BCAS3	54828	broad.mit.edu	37	chr17	58980003	58980003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcgatgtcatcagtcccGtggtggagcctgtggagaca	14	9	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:58980003G>A	uc002iyv.3	+	11	870	c.761G>A	c.(760-762)CGT>CAT	p.R254H	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.R254H|BCAS3_uc002iyw.3_Missense_Mutation_p.R250H|BCAS3_uc002iyx.1_Missense_Mutation_p.R69H|BCAS3_uc002iyy.3_Missense_Mutation_p.R25H	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	254						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CATCAGTCCCGTGGTGGAGCC	0.433													A	58980003	G	A	58980003	3	1	178	1	0	0	0	0	1	0	0	0	1352	1145	40	1	799	1	BCAS3	17	58980003	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2544842	58980003	22215207	605	96159											
TBX4	9496	broad.mit.edu	37	chr17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-													ggaggatcactatttccgttCcccccctccctacgaccagc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:59560344_59560344TC>T	uc010ddo.3	+	8	1271	c.1108_1108TC>T	c.(1108-1110)tccfs	p.S370fs	TBX4_uc002izi.3_Frame_Shift_Del_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	369					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						CTATTTCCGTTCCCCCCCTCC	0.572													-	59560345	C	-	59560345	7	5	178	1	0	1	0	1	0	0	0	0	15657	855	30	0	1136	0	TBX4	17	59560345	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	580342	59560345	21634865	606	96160											
MARCH10	162333	broad.mit.edu	37	chr17	60837269	60837269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttatgtttctgcttgacTgatgtttggtcaattgctgg	10	6	2	2	rs146472679	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:60837269T>C	uc010ddr.2	-	4	547	c.309A>G	c.(307-309)TCA>TCG	p.S103S	MARCH10_uc002jag.3_Silent_p.S103S|MARCH10_uc010dds.2_Silent_p.S103S|MARCH10_uc002jah.2_Silent_p.S103S	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	103							ligase activity|zinc ion binding				0						TCTGCTTGACTGATGTTTGGT	0.433													C	60837269	T	C	60837269	2	2	178	1	0	0	0	0	0	0	0	1	9299	1567	55	3		3	MARCH10	17	60837269	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1276924	60837269	20357941	607	96161											
FTSJ3	117246	broad.mit.edu	37	chr17	61901290	61901290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcccgctgctttctctgctCacgcaacagcttctttttct	5	16	4	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:61901290C>T	uc002jbz.2	-	12	1255	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K	FTSJ3_uc002jca.2_Missense_Mutation_p.E393K	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	393					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TTTCTCTGCTCACGCAACAGC	0.532													T	61901290	C	T	61901290	3	4	178	1	0	0	0	0	1	0	0	0	6089	835	29	4	1402	4	FTSJ3	17	61901290	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1064021	61901290	19293920	608	96162											
ICAM2	3384	broad.mit.edu	37	chr17	62081214	62081214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgccacggaacaggaagaGggtgaggctgtccaggggct	17	8	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:62081214G>T	uc002jdu.3	-	3	671	c.439C>A	c.(439-441)CTC>ATC	p.L147I	C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.L147I|ICAM2_uc010ded.2_Missense_Mutation_p.L147I|ICAM2_uc002jdx.3_Missense_Mutation_p.L147I|ICAM2_uc002jdv.3_Missense_Mutation_p.L147I	NM_000873	NP_000864	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2 precursor	147	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			ovary(1)	1						AACAGGAAGAGGGTGAGGCTG	0.607													T	62081214	G	T	62081214	3	4	178	1	0	0	0	0	1	0	0	0	7480	1000	35	5	396	5	ICAM2	17	62081214	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	179924	62081214	19113996	609	96163											
ERN1	2081	broad.mit.edu	37	chr17	62137923	62137923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagcatcttggtagacGcagacagtggggtttcatgg	13	9	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:62137923G>A	uc002jdz.2	-	11	1225	c.1112C>T	c.(1111-1113)GCG>GTG	p.A371V		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	371	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CTTGGTAGACGCAGACAGTGG	0.448													A	62137923	G	A	62137923	3	1	178	1	0	0	0	0	1	0	0	0	5237	1087	38	1	1869	1	ERN1	17	62137923	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	56709	62137923	19057287	610	96164											
AXIN2	8313	broad.mit.edu	37	chr17	63532568	63532568	+	Frame_Shift_Del	DEL	G	G	-													gtgggcacggggggtggtgcGggggtgcccgctgttgcccc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:63532568delG	uc002jfi.2	-	8	2300	c.2011delC	c.(2011-2013)CGCfs	p.R671fs	AXIN2_uc002jfh.2_Frame_Shift_Del_p.R606fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	671					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GGGGTGGTGCGGGGGTGCCCG	0.682									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				-	63532568	G	-	63532568	7	5	178	1	0	1	0	1	0	0	0	0	1237	1116	39	0	536	0	AXIN2	17	63532568	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	1394645	63532568	17662642	611	96165											
CCDC46	201134	broad.mit.edu	37	chr17	64059082	64059082	+	Frame_Shift_Del	DEL	T	T	-													agtattttatgtagcttaccTttttttcccagtcattattt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:64059082delT	uc002jfl.2	-	11	1292	c.1073delA	c.(1072-1074)AAGfs	p.K358fs	CCDC46_uc010deo.2_Frame_Shift_Del_p.K100fs|CCDC46_uc002jfm.2_Frame_Shift_Del_p.K358fs|CCDC46_uc010dep.2_Frame_Shift_Del_p.K316fs	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	358	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			GTAGCTTACCTTTTTTTCCCA	0.294													-	64059082	T	-	64059082	7	5	178	1	0	1	0	1	0	0	0	0	2817	1623	56	0	2028	0	CCDC46	17	64059082	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	526514	64059082	17136128	612	96166											
KPNA2	3838	broad.mit.edu	37	chr17	66040114	66040114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgtcaaacatcacagCcggccgccaggaccagatac	9	14	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:66040114C>T	uc002jgk.2	+	8	1223	c.1091C>T	c.(1090-1092)GCC>GTC	p.A364V	KPNA2_uc002jgl.2_Missense_Mutation_p.A364V	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	364	ARM 7.|NLS binding site (minor) (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			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACATCACAGCCGGCCGCCAG	0.478													T	66040114	C	T	66040114	3	4	178	1	0	0	0	0	1	0	0	0	8430	739	26	2	1117	2	KPNA2	17	66040114	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1981032	66040114	15155096	613	96167											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					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)					ATAAGCCATATAAAAAAAAGA	0.303													-	67125767	A	-	67125767	7	5	178	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	1085653	67125767	14069443	614	96168											
SOX9	6662	broad.mit.edu	37	chr17	70120258	70120258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccccaacagatcgcctaCagccccttcaacctcccaca	4	21	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:70120258C>T	uc002jiw.2	+	3	1632	c.1260C>T	c.(1258-1260)TAC>TAT	p.Y420Y		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	420					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				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGATCGCCTACAGCCCCTTCA	0.637													T	70120258	C	T	70120258	2	4	178	1	0	0	0	0	0	0	0	1	14958	489	17	4		4	SOX9	17	70120258	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2994491	70120258	11074952	615	96169											
TNRC6C	57690	broad.mit.edu	37	chr17	76045711	76045711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaataacactaaccccAtgaactcttcacccaaccct	2	17	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:76045711A>G	uc002jud.2	+	4	1168	c.568A>G	c.(568-570)ATG>GTG	p.M190V	TNRC6C_uc002juf.2_Missense_Mutation_p.M190V|TNRC6C_uc002jue.2_Missense_Mutation_p.M190V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	190	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACTAACCCCATGAACTCTTC	0.502													G	76045711	A	G	76045711	3	3	178	1	0	0	0	0	1	0	0	0	16339	217	8	3	570	3	TNRC6C	17	76045711	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	5925453	76045711	5149499	616	96170											
USP36	57602	broad.mit.edu	37	chr17	76832231	76832231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatctccactcttgtggCgactagctccctctgttttg	9	13	4	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:76832231C>T	uc002jvz.1	-	3	540	c.215G>A	c.(214-216)CGC>CAC	p.R72H	USP36_uc002jwa.1_Missense_Mutation_p.R72H|USP36_uc002jwd.1_Missense_Mutation_p.R72H	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	72					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ACTCTTGTGGCGACTAGCTCC	0.557													T	76832231	C	T	76832231	3	4	178	1	0	0	0	0	1	0	0	0	17064	768	27	1	3228	1	USP36	17	76832231	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	786520	76832231	4362979	617	96171											
CCDC40	55036	broad.mit.edu	37	chr17	78069228	78069228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagcttgagctgcgccGgaaaatcagggacgttcgca	13	11	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:78069228G>A	uc010dht.2	+	18	3026	c.2999G>A	c.(2998-3000)CGG>CAG	p.R1000Q	CCDC40_uc002jxm.3_Missense_Mutation_p.R783Q|CCDC40_uc002jxn.3_Missense_Mutation_p.R396Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1000					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGCTGCGCCGGAAAATCAGG	0.622													A	78069228	G	A	78069228	3	1	178	1	0	0	0	0	1	0	0	0	2812	1116	39	1	3069	1	CCDC40	17	78069228	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1236997	78069228	3125982	618	96172											
CARD14	79092	broad.mit.edu	37	chr17	78157813	78157813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaaggaggtgctgctgCggcggtgccagcagctgcag	19	10	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr17:78157813C>T	uc002jxw.1	+	4	646	c.451C>T	c.(451-453)CGG>TGG	p.R151W	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R151W|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	151	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTGCTGCTGCGGCGGTGCCA	0.667													T	78157813	C	T	78157813	3	4	178	1	0	0	0	0	1	0	0	0	2646	759	27	1	461	1	CARD14	17	78157813	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	88585	78157813	3037397	619	96173											
CEP192	55125	broad.mit.edu	37	chr18	13049878	13049878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagtgaaatttctggaaCgagttcatcagggtaagtgt	11	6	3	1	rs142411472		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:13049878C>T	uc010xac.1	+	17	3085	c.3005C>T	c.(3004-3006)ACG>ATG	p.T1002M	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.T527M|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.T743M	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1002										ovary(4)|pancreas(1)	5						ATTTCTGGAACGAGTTCATCA	0.403													T	13049878	C	T	13049878	3	4	178	1	0	0	0	0	1	0	0	0	3251	536	19	1	3067	1	CEP192	18	13049878	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08		13049878	65027370	620	96174											
DSG1	1828	broad.mit.edu	37	chr18	28913591	28913591	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgtaagaggctctgacCgagatggcggggcagatggc	17	8	1	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:28913591C>T	uc002kwp.2	+	7	936	c.724C>T	c.(724-726)CGA>TGA	p.R242*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	242	Extracellular (Potential).|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			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGCTCTGACCGAGATGGCGG	0.428													T	28913591	C	T	28913591	4	4	178	1	0	0	0	0	0	1	0	0	4776	644	23	1	750	1	DSG1	18	28913591	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	15863713	28913591	49163657	621	96175											
C18orf34	374864	broad.mit.edu	37	chr18	30873148	30873148	+	Frame_Shift_Del	DEL	T	T	-													ttgatagagaatgtaattcaTtttttgatgactttgtttcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:30873148delT	uc002kxn.2	-	11	1293	c.1151delA	c.(1150-1152)AATfs	p.N384fs	C18orf34_uc010xbr.1_Frame_Shift_Del_p.N384fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Del_p.N384fs|C18orf34_uc002kxp.2_Frame_Shift_Del_p.N384fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	384	Potential.									ovary(1)	1						ATGTAATTCATTTTTTGATGA	0.259													-	30873148	T	-	30873148	7	5	178	1	0	1	0	1	0	0	0	0	1902	1493	52	0	1500	0	C18orf34	18	30873148	Frame_Shift_Del	DEL	T	TCGA-CG-4465-01A-01D-1158-08	1959557	30873148	47204100	622	96176											
SETBP1	26040	broad.mit.edu	37	chr18	42532846	42532846	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggcaaagccacaggcTtctccagccacatcctgagc	9	15	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:42532846T>G	uc010dni.2	+	4	3837	c.3541T>G	c.(3541-3543)TTC>GTC	p.F1181V		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1181						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCCACAGGCTTCTCCAGCCA	0.522									Schinzel-Giedion_syndrome				G	42532846	T	G	42532846	3	3	178	1	0	0	0	0	1	0	0	0	14129	1609	56	5	3744	5	SETBP1	18	42532846	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	11659698	42532846	35544402	623	96177											
TCEB3B	51224	broad.mit.edu	37	chr18	44560283	44560283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatggctgggcaccgttttCggcccggcggaatcagcgcc	14	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:44560283C>T	uc002lcr.1	-	1	1706	c.1353G>A	c.(1351-1353)CCG>CCA	p.P451P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	451					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCACCGTTTTCGGCCCGGCGG	0.602													T	44560283	C	T	44560283	2	4	178	1	0	0	0	0	0	0	0	1	15679	871	31	1		1	TCEB3B	18	44560283	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2027437	44560283	33516965	624	96178											
GRP	2922	broad.mit.edu	37	chr18	56892843	56892843	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcaaggaatttgctgggtCtcatagaagcaaaggagaac	12	7	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:56892843C>T	uc002lhv.2	+	2	357	c.259C>T	c.(259-261)CTC>TTC	p.L87F	GRP_uc002lhu.2_Missense_Mutation_p.L87F|GRP_uc002lhw.2_Missense_Mutation_p.L87F	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	87					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				TTTGCTGGGTCTCATAGAAGC	0.527													T	56892843	C	T	56892843	3	4	178	1	0	0	0	0	1	0	0	0	6805	913	32	4	265	4	GRP	18	56892843	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	12332560	56892843	21184405	625	96179											
CYB5A	1528	broad.mit.edu	37	chr18	71920841	71920841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctctgccatgtataggCgatacatcaaggcgacggcc	11	12	2	0	rs145656581	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:71920841C>T	uc002lli.2	-	5	494	c.383G>A	c.(382-384)CGC>CAC	p.R128H	CYB5A_uc002llh.2_3'UTR	NM_148923	NP_683725	P00167	CYB5_HUMAN	cytochrome b-5 isoform 1	128	Helical; (Potential).				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding				0		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	CATGTATAGGCGATACATCAA	0.502													T	71920841	C	T	71920841	3	4	178	1	0	0	0	0	1	0	0	0	4122	768	27	1	25	1	CYB5A	18	71920841	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	15027998	71920841	6156407	626	96180											
MBP	4155	broad.mit.edu	37	chr18	74817183	74817183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgtactggccttctcgGcatttaattctcgtttgcct	7	12	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:74817183G>A	uc010xfd.1	-	2	299	c.35C>T	c.(34-36)GCC>GTC	p.A12V	MBP_uc002lmr.2_Missense_Mutation_p.A12V	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	12					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		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)		GGCCTTCTCGGCATTTAATTC	0.468													A	74817183	G	A	74817183	3	1	178	1	0	0	0	0	1	0	0	0	9359	1203	42	2	1011	2	MBP	18	74817183	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2896342	74817183	3260065	627	96181											
SALL3	27164	broad.mit.edu	37	chr18	76753543	76753543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctggacagcaagcccGtgctgcccaccgtgcccacg	12	18	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:76753543G>A	uc002lmt.2	+	2	1552	c.1552G>A	c.(1552-1554)GTG>ATG	p.V518M	SALL3_uc010dra.2_Missense_Mutation_p.V125M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		CAGCAAGCCCGTGCTGCCCAC	0.721													A	76753543	G	A	76753543	3	1	178	1	0	0	0	0	1	0	0	0	13812	1145	40	1	1558	1	SALL3	18	76753543	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1936360	76753543	1323705	628	96182											
CTDP1	9150	broad.mit.edu	37	chr18	77475181	77475181	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggtgagtccctggaccAgagcatggaggaggaggagg	20	7	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr18:77475181A>C	uc002lnh.1	+	8	1868	c.1721A>C	c.(1720-1722)CAG>CCG	p.Q574P	CTDP1_uc002lni.1_Missense_Mutation_p.Q574P|CTDP1_uc010drd.1_Missense_Mutation_p.Q574P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	574					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCCCTGGACCAGAGCATggag	0.547													C	77475181	A	C	77475181	3	2	178	1	0	0	0	0	1	0	0	0	4002	188	7	5	1751	5	CTDP1	18	77475181	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	721638	77475181	602067	629	96183											
C19orf22	91300	broad.mit.edu	37	chr19	902078	902078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttccgcctggaagccgAgagtctcttcacctgggagc	12	13	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:902078A>G	uc002lqg.2	-	2	192	c.124T>C	c.(124-126)TCG>CCG	p.S42P	C19orf22_uc002lqh.2_Intron|C19orf22_uc002lqi.2_Missense_Mutation_p.S42P|C19orf22_uc002lqj.2_5'UTR	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	42						nucleus	nucleic acid binding			pancreas(1)	1		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)		CTGGAAGCCGAGAGTCTCTTC	0.662													G	902078	A	G	902078	3	3	178	1	0	0	0	0	1	0	0	0	1914	304	11	3	710	3	C19orf22	19	902078	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08		902078	58226905	630	96184											
C19orf6	91304	broad.mit.edu	37	chr19	1010864	1010864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggatggcaggcagctCgtagtggtggaagaagtaga	17	6	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:1010864C>T	uc002lqr.1	-	11	1494	c.1348G>A	c.(1348-1350)GAG>AAG	p.E450K	uc002lqp.1_5'Flank|C19orf6_uc002lqq.1_RNA|C19orf6_uc002lqs.1_3'UTR	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	membralin isoform 1	450						cytoplasm|integral to membrane				pancreas(2)|breast(1)	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;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)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGCAGCTCGTAGTGGTGG	0.677													T	1010864	C	T	1010864	3	4	178	1	0	0	0	0	1	0	0	0	1941	893	31	1	518	1	C19orf6	19	1010864	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	108786	1010864	58118119	631	96185											
THOP1	7064	broad.mit.edu	37	chr19	2810725	2810725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccccgccgaggagtatgCgcggctctgccaggagatcc	14	14	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:2810725C>T	uc002lwj.2	+	11	1885	c.1730C>T	c.(1729-1731)GCG>GTG	p.A577V	THOP1_uc010xgz.1_Missense_Mutation_p.A456V|THOP1_uc002lwk.2_Missense_Mutation_p.A88V	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	577					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				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)		GAGGAGTATGCGCGGCTCTGC	0.687													T	2810725	C	T	2810725	3	4	178	1	0	0	0	0	1	0	0	0	15868	768	27	1	1772	1	THOP1	19	2810725	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1799861	2810725	56318258	632	96186											
ZNF555	148254	broad.mit.edu	37	chr19	2852714	2852714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacttcctccctcaatcgGcatgtaaggattcacactgc	7	14	2	0	rs139480369	by1000genomes	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:2852714G>A	uc002lwo.2	+	4	740	c.651G>A	c.(649-651)CGG>CGA	p.R217R	ZNF555_uc002lwn.3_Silent_p.R216R	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	217	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				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)		CCCTCAATCGGCATGTAAGGA	0.428													A	2852714	G	A	2852714	2	1	178	1	0	0	0	0	0	0	0	1	17983	1190	42	2		2	ZNF555	19	2852714	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	41989	2852714	56276269	633	96187											
ZNF556	80032	broad.mit.edu	37	chr19	2877633	2877633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatgtaaggactcacaCtggagagaaaccctacgaat	9	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:2877633C>T	uc002lwp.1	+	4	764	c.677C>T	c.(676-678)ACT>ATT	p.T226I	ZNF556_uc002lwq.2_Missense_Mutation_p.T225I	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		AGGACTCACACTGGAGAGAAA	0.502													T	2877633	C	T	2877633	3	4	178	1	0	0	0	0	1	0	0	0	17984	565	20	4	691	4	ZNF556	19	2877633	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	24919	2877633	56251350	634	96188											
GNA11	2767	broad.mit.edu	37	chr19	3113410	3113410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagtgccatcaagacccTgtgggaggacccgggcatcc	13	14	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:3113410T>C	uc002lxd.2	+	3	646	c.404T>C	c.(403-405)CTG>CCG	p.L135P		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	135					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			eye(70)|skin(16)	86		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)		ATCAAGACCCTGTGGGAGGAC	0.652			Mis		uveal melanoma								C	3113410	T	C	3113410	3	2	178	1	0	0	0	0	1	0	0	0	6499	1580	55	3	414	3	GNA11	19	3113410	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	235777	3113410	56015573	635	96189											
TICAM1	148022	broad.mit.edu	37	chr19	4818338	4818338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagcttgtcctggcctgCtgcacctagaatgtcgaagg	12	11	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:4818338C>T	uc002mbi.2	-	2	303	c.52G>A	c.(52-54)GCA>ACA	p.A18T		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	18					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTGGCCTGCTGCACCTAGA	0.607													T	4818338	C	T	4818338	3	4	178	1	0	0	0	0	1	0	0	0	15889	797	28	2	2090	2	TICAM1	19	4818338	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1704928	4818338	54310645	636	96190											
PLIN3	10226	broad.mit.edu	37	chr19	4852210	4852210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgcgggtcgcgtccAccgcctccgacaattgggtg	13	16	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:4852210A>G	uc002mbj.2	-	5	629	c.452T>C	c.(451-453)GTG>GCG	p.V151A	PLIN3_uc002mbk.2_Missense_Mutation_p.V139A|PLIN3_uc002mbl.3_Missense_Mutation_p.V151A	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	151					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCGCGTCCACCGCCTCCGA	0.647											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	4852210	A	G	4852210	3	3	178	1	0	0	0	0	1	0	0	0	12091	159	6	3	868	3	PLIN3	19	4852210	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	33872	4852210	54276773	637	96191											
PSPN	5623	broad.mit.edu	37	chr19	6375771	6375771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaactctccatcggccacGggaaccccacgggcatcggg	13	15	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:6375771G>A	uc010xja.1	-	1	90	c.90C>T	c.(88-90)CCC>CCT	p.P30P		NM_004158	NP_004149	O60542	PSPN_HUMAN	persephin precursor	30					axon guidance|central nervous system development		growth factor activity			skin(1)	1						CATCGGCCACGGGAACCCCAC	0.642													A	6375771	G	A	6375771	2	1	178	1	0	0	0	0	0	0	0	1	12718	1103	39	1		1	PSPN	19	6375771	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1523561	6375771	52753212	638	96192											
KIAA1543	57662	broad.mit.edu	37	chr19	7682705	7682705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagctgccagttccgggCgctctacacgctgtcggggg	15	14	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:7682705C>T	uc002mgv.3	+	17	3613	c.3512C>T	c.(3511-3513)GCG>GTG	p.A1171V	KIAA1543_uc002mgu.3_Missense_Mutation_p.A1198V|KIAA1543_uc002mgw.2_Missense_Mutation_p.A301V	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	1171	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CAGTTCCGGGCGCTCTACACG	0.617													T	7682705	C	T	7682705	3	4	178	1	0	0	0	0	1	0	0	0	8243	768	27	1	3667	1	KIAA1543	19	7682705	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1306934	7682705	51446278	639	96193											
XAB2	56949	broad.mit.edu	37	chr19	7693109	7693109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggggcgccctgtttgaactCgatgtagcgaagccagcatt	13	11	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:7693109C>T	uc002mgx.2	-	2	153	c.127G>A	c.(127-129)GAG>AAG	p.E43K	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	43	HAT 1.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						TGTTTGAACTCGATGTAGCGA	0.592								Direct_reversal_of_damage|NER					T	7693109	C	T	7693109	3	4	178	1	0	0	0	0	1	0	0	0	17415	893	31	1	2512	1	XAB2	19	7693109	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	10404	7693109	51435874	640	96194											
ZNF559	84527	broad.mit.edu	37	chr19	9452461	9452461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttaagactcacaggagaActtactttagaaagaaaacc	7	9	1	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:9452461A>G	uc002mlg.2	+	7	981	c.334A>G	c.(334-336)ACT>GCT	p.T112A	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.T104A|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.T176A|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	112	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCACAGGAGAACTTACTTTAG	0.383													G	9452461	A	G	9452461	3	3	178	1	0	0	0	0	1	0	0	0	17987	43	2	3	348	3	ZNF559	19	9452461	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1759352	9452461	49676522	641	96195											
ZNF559	84527	broad.mit.edu	37	chr19	9452553	9452553	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacacaagaaaactgatatCggagaggaacttcctaactg	8	8	0	3	rs147973414	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:9452553C>T	uc002mlg.2	+	7	1073	c.426C>T	c.(424-426)ATC>ATT	p.I142I	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.I134I|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.I206I|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAACTGATATCGGAGAGGAAC	0.363													T	9452553	C	T	9452553	2	4	178	1	0	0	0	0	0	0	0	1	17987	874	31	1		1	ZNF559	19	9452553	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	92	9452553	49676430	642	96196											
ZNF561	93134	broad.mit.edu	37	chr19	9721783	9721783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaacttcaagatgtacaGcaagacctggagttagagta	11	6	1	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:9721783G>A	uc002mlu.2	-	6	759	c.554C>T	c.(553-555)GCT>GTT	p.A185V	ZNF561_uc010dwu.2_Missense_Mutation_p.A116V|ZNF561_uc010xkr.1_Missense_Mutation_p.A49V	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	zinc finger protein 561	185	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGATGTACAGCAAGACCTGG	0.403													A	9721783	G	A	9721783	3	1	178	1	0	0	0	0	1	0	0	0	17989	971	34	2	910	2	ZNF561	19	9721783	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	269230	9721783	49407200	643	96197											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10221628	10221628	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctccccacagacctgttCcccgaggccaagcagaaacg	8	17	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:10221628C>T	uc002mna.2	+	12	1209	c.1209C>T	c.(1207-1209)TTC>TTT	p.F403F	PPAN-P2RY11_uc010xla.1_Silent_p.F403F|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.F403F|PPAN_uc002mnb.1_Silent_p.F350F	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	403					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CAGACCTGTTCCCCGAGGCCA	0.627													T	10221628	C	T	10221628	2	4	178	1	0	0	0	0	0	0	0	1	12289	854	30	4		4	PPAN-P2RY11	19	10221628	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	499845	10221628	48907355	644	96198											
DNMT1	1786	broad.mit.edu	37	chr19	10277310	10277310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcgtcagcctgcacGcctgccctggcttctctgtc	9	18	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:10277310G>A	uc002mng.2	-	10	987	c.807C>T	c.(805-807)GGC>GGT	p.G269G	DNMT1_uc010xlc.1_Silent_p.G285G|DNMT1_uc002mnh.2_Silent_p.G164G|DNMT1_uc010xld.1_Silent_p.G269G|DNMT1_uc002mnk.2_RNA	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	269	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			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			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)	CAGCCTGCACGCCTGCCCTGG	0.567													A	10277310	G	A	10277310	2	1	178	1	0	0	0	0	0	0	0	1	4675	1074	38	1		1	DNMT1	19	10277310	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	55682	10277310	48851673	645	96199											
ZNF564	163050	broad.mit.edu	37	chr19	12637603	12637604	+	Frame_Shift_Del	DEL	AT	AT	-													catctccagtgtgcagtatcAtatgttttctaatcctttta							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:12637603_12637604delAT	uc002mty.2	-	4	1528_1529	c.1318_1319delAT	c.(1318-1320)ATGfs	p.M440fs	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	440	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTGCAGTATCATATGTTTTCTA	0.391													-	12637604	AT	-	12637603	7	5	178	1	0	1	0	1	0	0	0	0	17992	217	8	0	346	0	ZNF564	19	12637603	Frame_Shift_Del	DEL	AT	TCGA-CG-4465-01A-01D-1158-08	2360293	12637603	46491380	646	96200											
MAN2B1	4125	broad.mit.edu	37	chr19	12759146	12759146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccctcgcacccacGcccccgacccgttctccatt	9	21	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:12759146G>A	uc002mub.2	-	21	2583	c.2507C>T	c.(2506-2508)GCG>GTG	p.A836V	MAN2B1_uc010dyv.1_Missense_Mutation_p.A835V	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	836					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						TCGCACCCACGCCCCCGACCC	0.701													A	12759146	G	A	12759146	3	1	178	1	0	0	0	0	1	0	0	0	9216	1087	38	1	544	1	MAN2B1	19	12759146	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	121543	12759146	46369837	647	96201											
RFX1	5989	broad.mit.edu	37	chr19	14074062	14074062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctggcggcgctgcgcaGggtcaggtcccggatcacca	16	13	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:14074062G>A	uc002mxv.2	-	19	2868	c.2596C>T	c.(2596-2598)CTG>TTG	p.L866L		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	866	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCGCTGCGCAGGGTCAGGTCC	0.677													A	14074062	G	A	14074062	2	1	178	1	0	0	0	0	0	0	0	1	13262	991	35	4		4	RFX1	19	14074062	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1314916	14074062	45054921	648	96202											
CYP4F8	11283	broad.mit.edu	37	chr19	15726481	15726481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccggtggcagcatccccGtggctgctcctgctggtggt	16	13	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:15726481G>A	uc002nbi.2	+	2	118	c.54G>A	c.(52-54)CCG>CCA	p.P18P	CYP4F8_uc010xoi.1_Silent_p.P18P|CYP4F8_uc010xoj.1_Translation_Start_Site	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	18	Helical; (Potential).				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			large_intestine(1)	1						CAGCATCCCCGTGGCTGCTCC	0.672													A	15726481	G	A	15726481	2	1	178	1	0	0	0	0	0	0	0	1	4191	1132	40	1		1	CYP4F8	19	15726481	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1652419	15726481	43402502	649	96203											
ANKLE1	126549	broad.mit.edu	37	chr19	17394228	17394228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggattacagctcagacGcctctttcgtcacagcggtt	10	12	3	1	rs10415287	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:17394228G>A	uc002nga.2	+	5	931	c.655G>A	c.(655-657)GCC>ACC	p.A219T	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.A241T|ANKLE1_uc010xpn.1_Missense_Mutation_p.A273T|ANKLE1_uc002nfy.2_Missense_Mutation_p.A208T|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	219						nuclear envelope					0						CAGCTCAGACGCCTCTTTCGT	0.637													A	17394228	G	A	17394228	3	1	178	1	0	0	0	0	1	0	0	0	632	1087	38	1	673	1	ANKLE1	19	17394228	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1667747	17394228	41734755	650	96204											
KIAA1683	80726	broad.mit.edu	37	chr19	18376152	18376152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacaggtggctagaggcGcttgggactggaccttcacg	15	10	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:18376152G>A	uc002nin.2	-	3	2414	c.2198C>T	c.(2197-2199)GCG>GTG	p.A733V	KIAA1683_uc010ebn.2_Missense_Mutation_p.A733V|KIAA1683_uc010xqe.1_Missense_Mutation_p.A687V	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	733						mitochondrion				ovary(2)	2						GGCTAGAGGCGCTTGGGACTG	0.612													A	18376152	G	A	18376152	3	1	178	1	0	0	0	0	1	0	0	0	8251	1087	38	1	1913	1	KIAA1683	19	18376152	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	981924	18376152	40752831	651	96205											
SFRS14	10147	broad.mit.edu	37	chr19	19115185	19115185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccgcccctccaggagcGggggcctcctctcccccatc	10	21	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:19115185G>A	uc002nkx.2	-	7	2867	c.2721C>T	c.(2719-2721)CCC>CCT	p.P907P	SFRS14_uc002nkz.1_Silent_p.P921P|SFRS14_uc002nla.1_Silent_p.P907P|SFRS14_uc002nlb.2_Silent_p.P907P|SFRS14_uc010xqk.1_Silent_p.P676P	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	907					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CTCCAGGAGCGGGGGcctcct	0.567													A	19115185	G	A	19115185	2	1	178	1	0	0	0	0	0	0	0	1	14170	1103	39	1		1	SFRS14	19	19115185	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	739033	19115185	40013798	652	96206											
ARMC6	93436	broad.mit.edu	37	chr19	19166101	19166101	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcaagtgctgagcaccCtgcgagccatcgcaggcaac	12	13	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:19166101C>A	uc002nld.2	+	7	1399	c.1051C>A	c.(1051-1053)CTG>ATG	p.L351M	ARMC6_uc002nlc.2_Missense_Mutation_p.L326M|ARMC6_uc010xql.1_Missense_Mutation_p.L258M|ARMC6_uc002nle.2_Missense_Mutation_p.L326M|ARMC6_uc010xqm.1_Missense_Mutation_p.L351M	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	351	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GCTGAGCACCCTGCGAGCCAT	0.617													A	19166101	C	A	19166101	3	1	178	1	0	0	0	0	1	0	0	0	955	680	24	5	994	5	ARMC6	19	19166101	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	50916	19166101	39962882	653	96207											
TSHZ3	57616	broad.mit.edu	37	chr19	31767998	31767999	+	Frame_Shift_Ins	INS	-	-	G													tggaggatcaggaggtgctgINSggggttccagtttgactggc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:31767997_31767998T>TG	uc002nsy.4	-	1	2766_2767	c.2701_2702A>CA	c.(2701-2703)cagfs	p.Q901fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	901					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)					CAGGAGGTGCTGGGGGTTCCAG	0.624													G	31767999	-	G	31767998	7	5	178	1	0	1	1	0	0	0	0	0	16622	1357	47	0	548	0	TSHZ3	19	31767998	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	12601897	31767998	27360985	654	96208											
CD22	933	broad.mit.edu	37	chr19	35832249	35832250	+	Frame_Shift_Ins	INS	-	-	C													gacccttgccctccagatgcINScccccgagacgtgagggtcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:35832248_35832249G>GC	uc010edt.3	+	7	1594_1595	c.1510_1511G>GC	c.(1510-1512)gccfs	p.A504fs	CD22_uc010edu.3_Frame_Shift_Ins_p.A416fs|CD22_uc010edv.3_Frame_Shift_Ins_p.A504fs|CD22_uc002nzb.4_Frame_Shift_Ins_p.A327fs|CD22_uc010xst.2_Frame_Shift_Ins_p.A332fs|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	504					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)	CCCTCCAGATGCCCCCCGAGAC	0.619													C	35832250	-	C	35832249	7	5	178	1	0	1	1	0	0	0	0	0	2985	739	26	0	1537	0	CD22	19	35832249	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	4064251	35832249	23296734	655	96209											
RBM42	79171	broad.mit.edu	37	chr19	36124838	36124838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcggcctcctgcccccgCtgcgcattcctgaactcctg	9	20	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:36124838C>T	uc002oan.2	+	7	1010	c.934C>T	c.(934-936)CTG>TTG	p.L312L	RBM42_uc010eef.2_Silent_p.L258L|RBM42_uc002oao.2_Silent_p.L290L|RBM42_uc002oap.2_Silent_p.L282L|RBM42_uc002oaq.2_Silent_p.L283L|RBM42_uc010eeg.2_Silent_p.L283L	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	312	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	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)			CCTGCCCCCGCTGCGCATTCC	0.711													T	36124838	C	T	36124838	2	4	178	1	0	0	0	0	0	0	0	1	13136	796	28	2		2	RBM42	19	36124838	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	292589	36124838	23004145	656	96210											
ZNF345	25850	broad.mit.edu	37	chr19	37368416	37368416	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggattcatactggtgagaaAccttatgaatgcaaagcatg	10	7	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:37368416A>C	uc002oex.2	+	3	1062	c.684A>C	c.(682-684)AAA>AAC	p.K228N	ZNF345_uc002oey.3_Missense_Mutation_p.K228N|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	228					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			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGTGAGAAACCTTATGAAT	0.423													C	37368416	A	C	37368416	3	2	178	1	0	0	0	0	1	0	0	0	17856	40	2	5	686	5	ZNF345	19	37368416	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1243578	37368416	21760567	657	96211											
ZNF345	25850	broad.mit.edu	37	chr19	37368636	37368636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagtggctcagatctcActcagcatcagagaattcac	7	10	5	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:37368636A>G	uc002oex.2	+	3	1282	c.904A>G	c.(904-906)ACT>GCT	p.T302A	ZNF345_uc002oey.3_Missense_Mutation_p.T302A|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	302	C2H2-type 9.				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			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAGATCTCACTCAGCATCA	0.398													G	37368636	A	G	37368636	3	3	178	1	0	0	0	0	1	0	0	0	17856	159	6	3	906	3	ZNF345	19	37368636	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	220	37368636	21760347	658	96212											
SAMD4B	55095	broad.mit.edu	37	chr19	39871247	39871247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggcattcggctccaactCgctccccatagctggctctg	10	16	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:39871247C>T	uc002olb.2	+	13	2705	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	SAMD4B_uc002ola.2_Missense_Mutation_p.S557L	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	557							protein binding				0	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)			GGCTCCAACTCGCTCCCCATA	0.627													T	39871247	C	T	39871247	3	4	178	1	0	0	0	0	1	0	0	0	13822	893	31	1	1704	1	SAMD4B	19	39871247	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2502611	39871247	19257736	659	96213											
PAF1	54623	broad.mit.edu	37	chr19	39879317	39879317	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcatccatcatgcccCtggttgggggaaaaggagta	11	11	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:39879317C>T	uc002old.2	-	10	916	c.741_splice	c.e10-1	p.R247_splice	PAF1_uc002ole.1_Splice_Site_p.R237_splice|PAF1_uc010xuv.1_Splice_Site|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,						histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	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)			CATCATGCCCCTGGTTGGGGG	0.542													T	39879317	C	T	39879317	5	4	178	1	0	0	0	0	0	0	1	0	11383	695	24	4	875	4	PAF1	19	39879317	Splice_Site	SNP	C	TCGA-CG-4465-01A-01D-1158-08	8070	39879317	19249666	660	96214											
LTBP4	8425	broad.mit.edu	37	chr19	41123127	41123127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggatgggcgtcactgcGtgggtacgggacttcaggag	18	9	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:41123127G>A	uc002ooh.1	+	25	3268	c.3268G>A	c.(3268-3270)GTG>ATG	p.V1090M	LTBP4_uc002oog.1_Missense_Mutation_p.V1053M|LTBP4_uc002ooi.1_Missense_Mutation_p.V1023M|LTBP4_uc002ooj.1_Translation_Start_Site|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1090	Cys-rich.|EGF-like 12; 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)			GCGTCACTGCGTGGGTACGGG	0.627													A	41123127	G	A	41123127	3	1	178	1	0	0	0	0	1	0	0	0	9076	1132	40	1	3654	1	LTBP4	19	41123127	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1243810	41123127	18005856	661	96215											
SNRPA	6626	broad.mit.edu	37	chr19	41268833	41268833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgatgactcaggcgcccCgcattatgcaccacatgccg	10	17	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:41268833C>T	uc002ooz.2	+	4	989	c.454C>T	c.(454-456)CGC>TGC	p.R152C	SNRPA_uc002opa.2_Missense_Mutation_p.R102C	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	152	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGGCGCCCCGCATTATGCA	0.657													T	41268833	C	T	41268833	3	4	178	1	0	0	0	0	1	0	0	0	14859	652	23	1	468	1	SNRPA	19	41268833	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	145706	41268833	17860150	662	96216											
ATP1A3	478	broad.mit.edu	37	chr19	42471440	42471440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgagtttgcggatttcgtCgtagacgaagatgaggaaac	14	5	0	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:42471440C>T	uc002osg.2	-	22	3128	c.2974G>A	c.(2974-2976)GAC>AAC	p.D992N	ATP1A3_uc010xwf.1_Missense_Mutation_p.D1003N|ATP1A3_uc010xwg.1_Missense_Mutation_p.D962N|ATP1A3_uc010xwh.1_Missense_Mutation_p.D1005N|ATP1A3_uc002osh.2_Missense_Mutation_p.D992N	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	992	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CGGATTTCGTCGTAGACGAAG	0.652													T	42471440	C	T	42471440	3	4	178	1	0	0	0	0	1	0	0	0	1130	884	31	1	75	1	ATP1A3	19	42471440	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1202607	42471440	16657543	663	96217											
CIC	23152	broad.mit.edu	37	chr19	42795871	42795871	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccttctcagtacctgtgCagaatggtgcccagcccccc	9	18	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:42795871C>T	uc002otf.1	+	11	2900	c.2860C>T	c.(2860-2862)CAG>TAG	p.Q954*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	954	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AGTACCTGTGCAGAATGGTGC	0.607			T	DUX4	soft tissue sarcoma								T	42795871	C	T	42795871	4	4	178	1	0	0	0	0	0	1	0	0	3424	711	25	2	2902	2	CIC	19	42795871	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	324431	42795871	16333112	664	96218											
KCNN4	3783	broad.mit.edu	37	chr19	44278410	44278410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgaggccgagcagcaggCggccagggtgcgtgttcatg	19	10	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:44278410C>T	uc002oxl.2	-	3	1013	c.617G>A	c.(616-618)CGC>CAC	p.R206H	KCNN4_uc010eiz.2_Missense_Mutation_p.R119H|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	206					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GAGCAGCAGGCGGCCAGGGTG	0.642											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44278410	C	T	44278410	3	4	178	1	0	0	0	0	1	0	0	0	8081	768	27	1	690	1	KCNN4	19	44278410	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1482539	44278410	14850573	665	96219											
ZNF227	7770	broad.mit.edu	37	chr19	44738862	44738862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttttttaataggcagcaaGcatcaaaataagatggaaac	7	6	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:44738862G>T	uc002oyu.2	+	6	484	c.279G>T	c.(277-279)AAG>AAT	p.K93N	ZNF227_uc010xwu.1_Missense_Mutation_p.K42N|ZNF227_uc002oyv.2_Missense_Mutation_p.K93N|ZNF227_uc010xwv.1_Missense_Mutation_p.K42N|ZNF227_uc010xww.1_Missense_Mutation_p.K14N|ZNF227_uc002oyw.2_Missense_Mutation_p.K65N|ZNF227_uc010ejh.2_Missense_Mutation_p.K86N|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				TAGGCAGCAAGCATCAAAATA	0.358													T	44738862	G	T	44738862	3	4	178	1	0	0	0	0	1	0	0	0	17778	962	34	5	293	5	ZNF227	19	44738862	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	460452	44738862	14390121	666	96220											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885875	45885875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtccctccgcagcacGgtgaccgactcgccctcgcg	12	20	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:45885875G>A	uc002pbn.2	-	12	2435	c.2358C>T	c.(2356-2358)ACC>ACT	p.T786T	PPP1R13L_uc002pbm.2_Silent_p.T365T|PPP1R13L_uc002pbo.2_Silent_p.T786T	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	786	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCCGCAGCACGGTGACCGACT	0.687													A	45885875	G	A	45885875	2	1	178	1	0	0	0	0	0	0	0	1	12358	1103	39	1		1	PPP1R13L	19	45885875	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1147013	45885875	13243108	667	96221											
HIF3A	64344	broad.mit.edu	37	chr19	46815457	46815457	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatagtcccgatgacctgatCggctgttccgcctacgagta	10	12	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:46815457C>A	uc002peh.2	+	7	839	c.810C>A	c.(808-810)ATC>ATA	p.I270I	HIF3A_uc002pef.1_Silent_p.I270I|HIF3A_uc002peg.3_Silent_p.I270I|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Silent_p.I214I|HIF3A_uc002pej.1_Silent_p.I201I|HIF3A_uc002pek.2_Silent_p.I214I|HIF3A_uc010xxy.1_Silent_p.I201I|HIF3A_uc002pel.2_Silent_p.I268I|HIF3A_uc010xxz.1_Silent_p.I219I	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	270	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		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)		ATGACCTGATCGGCTGTTCCG	0.597													A	46815457	C	A	46815457	2	1	178	1	0	0	0	0	0	0	0	1	7105	874	31	5		5	HIF3A	19	46815457	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	929582	46815457	12313526	668	96222											
LMTK3	114783	broad.mit.edu	37	chr19	49000740	49000740	+	Frame_Shift_Del	DEL	C	C	-													cctctcgggcttgggggggtCcccgtctccgctgagtgccg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:49000739_49000739TC>T	uc002pjk.3	-	11	3674	c.3674_3674GA>A	c.(3673-3675)gacfs	p.D1225fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTTGGGGGGGTCCCCGTCTCC	0.706													-	49000740	C	-	49000740	7	5	178	1	0	1	0	1	0	0	0	0	8860	855	30	0	816	0	LMTK3	19	49000740	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	2185283	49000740	10128243	669	96223											
PRR12	57479	broad.mit.edu	37	chr19	50102838	50102838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccagccccctgccaccCctgctgtgccacatccccca	6	24	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:50102838C>T	uc002poo.3	+	5	3988	c.3988C>T	c.(3988-3990)CCT>TCT	p.P1330S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	509	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTGCCACCCCTGCTGTGCC	0.701													T	50102838	C	T	50102838	3	4	178	1	0	0	0	0	1	0	0	0	12584	623	22	4	4006	4	PRR12	19	50102838	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1102098	50102838	9026145	670	96224											
TSKS	60385	broad.mit.edu	37	chr19	50243064	50243064	+	Frame_Shift_Del	DEL	G	G	-													gggctgagcccccctgttttGggggggttcctgcactgctg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:50243063_50243063TG>T	uc002ppm.3	-	10	1760	c.1749_1749CA>A	c.(1747-1749)ccafs	p.P583fs		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	583							protein binding	p.P582T(1)		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)		CCCCCTGTTTTGGGGGGGTTC	0.542													-	50243064	G	-	50243064	7	5	178	1	0	1	0	1	0	0	0	0	16623	1348	47	0	34	0	TSKS	19	50243064	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	140226	50243064	8885919	671	96225											
MYH14	79784	broad.mit.edu	37	chr19	50785086	50785086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctggagaagaagcagcGcaagtttgaccaggtggggc	15	10	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:50785086G>A	uc002prr.1	+	31	4450	c.4403G>A	c.(4402-4404)CGC>CAC	p.R1468H	MYH14_uc010enu.1_Missense_Mutation_p.R1509H|MYH14_uc002prq.1_Missense_Mutation_p.R1476H|MYH14_uc010ycb.1_Intron|MYH14_uc002prs.1_5'Flank	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1468	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AAGAAGCAGCGCAAGTTTGAC	0.632													A	50785086	G	A	50785086	3	1	178	1	0	0	0	0	1	0	0	0	10033	1087	38	1	4652	1	MYH14	19	50785086	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	542022	50785086	8343897	672	96226											
SHANK1	50944	broad.mit.edu	37	chr19	51219986	51219986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgggcgtcgtctgggAcggacattgagcggccctgg	18	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:51219986A>G	uc002psx.1	-	1	210	c.191T>C	c.(190-192)GTC>GCC	p.V64A		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	64					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCGTCTGGGACGGACATTGA	0.682													G	51219986	A	G	51219986	3	3	178	1	0	0	0	0	1	0	0	0	14264	275	10	3	6386	3	SHANK1	19	51219986	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	434900	51219986	7908997	673	96227											
KLK13	26085	broad.mit.edu	37	chr19	51563198	51563198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagctggaccggggacTgcagctccagaagcatgatg	15	10	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:51563198T>C	uc002pvn.2	-	3	435	c.392A>G	c.(391-393)CAG>CGG	p.Q131R	KLK13_uc002pvl.2_Intron|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_Intron|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Intron|KLK13_uc002pvq.2_Intron|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.Q131R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	131	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GACCGGGGACTGCAGCTCCAG	0.612													C	51563198	T	C	51563198	3	2	178	1	0	0	0	0	1	0	0	0	8401	1580	55	3	453	3	KLK13	19	51563198	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	343212	51563198	7565785	674	96228											
ZNF808	388558	broad.mit.edu	37	chr19	53057635	53057635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaagtgtaatgagtgtcGcaagaccttcagccgcaggt	11	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:53057635G>A	uc010epq.1	+	5	1643	c.1466G>A	c.(1465-1467)CGC>CAC	p.R489H	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATGAGTGTCGCAAGACCTTC	0.433													A	53057635	G	A	53057635	3	1	178	1	0	0	0	0	1	0	0	0	18170	1087	38	1	1476	1	ZNF808	19	53057635	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	1494437	53057635	6071348	675	96229											
ZNF611	81856	broad.mit.edu	37	chr19	53209310	53209310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtatcaattgccttaTcaattagaagggctgaattt	7	8	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:53209310T>C	uc002pzz.2	-	7	1315	c.998A>G	c.(997-999)GAT>GGT	p.D333G	ZNF611_uc010eqc.2_Missense_Mutation_p.D263G|ZNF611_uc010ydo.1_Missense_Mutation_p.D263G|ZNF611_uc010ydr.1_Missense_Mutation_p.D264G|ZNF611_uc010ydp.1_Missense_Mutation_p.D333G|ZNF611_uc010ydq.1_Missense_Mutation_p.D333G|ZNF611_uc002qaa.3_Missense_Mutation_p.D263G	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	333	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTGCCTTATCAATTAGAAG	0.363													C	53209310	T	C	53209310	3	2	178	1	0	0	0	0	1	0	0	0	18034	1435	50	3	1123	3	ZNF611	19	53209310	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	151675	53209310	5919673	676	96230											
NDUFA3	4696	broad.mit.edu	37	chr19	54609301	54609301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatgatcaacaaggccaCgccctacaactacccaggtg	8	15	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:54609301C>T	uc002qde.2	+	3	173	c.146C>T	c.(145-147)ACG>ATG	p.T49M	NDUFA3_uc002qdf.2_RNA	NM_004542	NP_004533	O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	49					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1	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)	AACAAGGCCACGCCCTACAAC	0.607													T	54609301	C	T	54609301	3	4	178	1	0	0	0	0	1	0	0	0	10265	536	19	1	156	1	NDUFA3	19	54609301	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1399991	54609301	4519682	677	96231											
ZNF784	147808	broad.mit.edu	37	chr19	56133713	56133713	+	Frame_Shift_Del	DEL	C	C	-													cgcgcagcggtagggccgctCccccgtgtgcaagctgtagt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:56133713delC	uc002qll.1	-	2	390	c.376delG	c.(376-378)GAGfs	p.E126fs	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGGGCCGCTCCCCCGTGTGC	0.776													-	56133713	C	-	56133713	7	5	178	1	0	1	0	1	0	0	0	0	18153	864	30	0	599	0	ZNF784	19	56133713	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	1524412	56133713	2995270	678	96232											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701680	56701681	+	Frame_Shift_Ins	INS	-	-	G													gaccgggcccgcagggcctgINSgggaatgaactggattgatc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:56701679_56701680T>TG	uc010ygh.2	-	3	1004_1005	c.1004_1005A>CA	c.(1003-1005)ccafs	p.P335fs		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	335					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						CCGCAGGGCCTGGGGAATGAAC	0.545													G	56701681	-	G	56701680	7	5	178	1	0	1	1	0	0	0	0	0	18236	1348	47	0	487	0	ZSCAN5B	19	56701680	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	567967	56701680	2427303	679	96233											
ZNF324	25799	broad.mit.edu	37	chr19	58982366	58982366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccccgcttaggcctccCgagggcgtccggcttagaga	12	16	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:58982366C>T	uc002qsw.1	+	4	601	c.507C>T	c.(505-507)CCC>CCT	p.P169P	ZNF324_uc002qsx.1_5'UTR	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TTAGGCCTCCCGAGGGCGTCC	0.647													T	58982366	C	T	58982366	2	4	178	1	0	0	0	0	0	0	0	1	17841	639	23	1		1	ZNF324	19	58982366	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2280686	58982366	146617	680	96234											
ZNF324	25799	broad.mit.edu	37	chr19	58983128	58983128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgcacacaggcgagaaGcccttcgcctgcccacagtg	12	16	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr19:58983128G>A	uc002qsw.1	+	4	1363	c.1269G>A	c.(1267-1269)AAG>AAA	p.K423K	ZNF324_uc002qsx.1_Silent_p.K200K	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CAGGCGAGAAGCCCTTCGCCT	0.682													A	58983128	G	A	58983128	2	1	178	1	0	0	0	0	0	0	0	1	17841	962	34	2		2	ZNF324	19	58983128	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	762	58983128	145855	681	96235											
TMC2	117532	broad.mit.edu	37	chr20	2621797	2621797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaccactcctccctctGccagccaaagccaggccatg	8	18	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:2621797G>A	uc002wgf.1	+	20	2536	c.2521G>A	c.(2521-2523)GCC>ACC	p.A841T	TMC2_uc002wgg.1_Missense_Mutation_p.A825T	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	841	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						TCCTCCCTCTGCCAGCCAAAG	0.567													A	2621797	G	A	2621797	3	1	178	1	0	0	0	0	1	0	0	0	15982	1319	46	2	2599	2	TMC2	20	2621797	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08		2621797	60403723	682	96236											
SLC4A11	83959	broad.mit.edu	37	chr20	3210181	3210181	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcacctcttcttgaaTtggtagagggtgtagcccag	11	12	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:3210181T>C	uc002wig.2	-	13	1827	c.1779A>G	c.(1777-1779)CAA>CAG	p.Q593Q	SLC4A11_uc010zqe.1_Silent_p.Q620Q|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.Q577Q	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	593	Membrane (bicarbonate transporter).|Cytoplasmic (Potential).				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			ovary(1)	1						TCTTCTTGAATTGGTAGAGGG	0.662													C	3210181	T	C	3210181	2	2	178	1	0	0	0	0	0	0	0	1	14652	1490	52	3		3	SLC4A11	20	3210181	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	588384	3210181	59815339	683	96237											
TASP1	55617	broad.mit.edu	37	chr20	13539704	13539704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcataaaatctgtgtccAccctttctgccagctctagt	7	12	3	0	rs112168352		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:13539704A>G	uc002woi.2	-	8	743	c.626T>C	c.(625-627)GTG>GCG	p.V209A	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.V186A|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	209					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						ATCTGTGTCCACCCTTTCTGC	0.279													G	13539704	A	G	13539704	3	3	178	1	0	0	0	0	1	0	0	0	15586	159	6	3	664	3	TASP1	20	13539704	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	10329523	13539704	49485816	684	96238											
CEP250	11190	broad.mit.edu	37	chr20	34057798	34057798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaaggctctgagagagaCagtggagatcctggtacatg	14	6	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:34057798C>T	uc002xcm.2	+	11	1606	c.935C>T	c.(934-936)ACA>ATA	p.T312I	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.T119I	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	312	Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGAGAGAGACAGTGGAGATC	0.463													T	34057798	C	T	34057798	3	4	178	1	0	0	0	0	1	0	0	0	3252	478	17	4	961	4	CEP250	20	34057798	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	20518094	34057798	28967722	685	96239											
SAMHD1	25939	broad.mit.edu	37	chr20	35539626	35539626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttacttcttacctgtcAgcttagtataggcttccatg	7	11	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:35539626A>G	uc002xgh.1	-	11	1395	c.1265T>C	c.(1264-1266)CTG>CCG	p.L422P		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	422					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				CTTACCTGTCAGCTTAGTATA	0.373													G	35539626	A	G	35539626	3	3	178	1	0	0	0	0	1	0	0	0	13828	188	7	3	639	3	SAMHD1	20	35539626	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1481828	35539626	27485894	686	96240											
LPIN3	64900	broad.mit.edu	37	chr20	39977299	39977300	+	Frame_Shift_Ins	INS	-	-	G													tgcacctcacccatcccttgINSggggggtctgtctggcttcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:39977298_39977299T>TG	uc010ggh.3	+	3	419_420	c.328_329T>TG	c.(328-330)tggfs	p.W110fs	LPIN3_uc002xjx.3_Frame_Shift_Ins_p.W110fs|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	110					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)				ACCCATCCCTTGGGGGGGTCTG	0.663													G	39977300	-	G	39977299	7	5	178	1	0	1	1	0	0	0	0	0	8920	1357	47	0	339	0	LPIN3	20	39977299	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	4437673	39977299	23048221	687	96241											
KCNS1	3787	broad.mit.edu	37	chr20	43726532	43726532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagttgcgcgtactgggcGccagcaggaggcgcgacgac	17	11	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:43726532G>A	uc002xnc.2	-	4	1278	c.881C>T	c.(880-882)GCG>GTG	p.A294V	KCNS1_uc002xnd.2_Missense_Mutation_p.A294V	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	294	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CGTACTGGGCGCCAGCAGGAG	0.647													A	43726532	G	A	43726532	3	1	178	1	0	0	0	0	1	0	0	0	8088	1087	38	1	707	1	KCNS1	20	43726532	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3749233	43726532	19298988	688	96242											
ATP9A	10079	broad.mit.edu	37	chr20	50221365	50221365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggtcttaccgatgaactCgtgtaagaacaccagggagg	14	8	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:50221365C>T	uc002xwg.1	-	27	2998	c.2998G>A	c.(2998-3000)GAG>AAG	p.E1000K	ATP9A_uc010gih.1_Missense_Mutation_p.E864K|ATP9A_uc002xwf.1_Missense_Mutation_p.E172K	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	1000	Extracellular (Potential).				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			ovary(4)	4						CCGATGAACTCGTGTAAGAAC	0.597													T	50221365	C	T	50221365	3	4	178	1	0	0	0	0	1	0	0	0	1198	893	31	1	153	1	ATP9A	20	50221365	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	6494833	50221365	12804155	689	96243											
ATP9A	10079	broad.mit.edu	37	chr20	50238695	50238695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtctccagcttgtccCctgtcagcatccaaacctga	7	15	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:50238695C>A	uc002xwg.1	-	19	2033	c.2033G>T	c.(2032-2034)GGG>GTG	p.G678V	ATP9A_uc010gih.1_Missense_Mutation_p.G542V|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	678	Cytoplasmic (Potential).				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			ovary(4)	4						CAGCTTGTCCCCTGTCAGCAT	0.498													A	50238695	C	A	50238695	3	1	178	1	0	0	0	0	1	0	0	0	1198	623	22	5	1150	5	ATP9A	20	50238695	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	17330	50238695	12786825	690	96244											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-													ggaaaccgggagggtaggaaCccccccactctggatcacag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:50400982_50400982AC>A	uc002xwh.4	-	3	3085	c.2984_2984GT>T	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					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						GAGGGTAGGAACCCCCCCACT	0.562													-	50400983	C	-	50400983	7	5	178	1	0	1	0	1	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	162288	50400983	12624537	691	96245											
ZFP64	55734	broad.mit.edu	37	chr20	50769044	50769044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccggctgggtcattgCgcccgcctcgctcggacacc	13	17	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:50769044C>T	uc002xwl.2	-	6	2036	c.1687G>A	c.(1687-1689)GCA>ACA	p.A563T	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.A561T|ZFP64_uc002xwn.2_Missense_Mutation_p.A509T	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGGGTCATTGCGCCCGCCTCG	0.682													T	50769044	C	T	50769044	3	4	178	1	0	0	0	0	1	0	0	0	17649	768	27	1	1553	1	ZFP64	20	50769044	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	368061	50769044	12256476	692	96246											
TSHZ2	128553	broad.mit.edu	37	chr20	51872445	51872446	+	Frame_Shift_Ins	INS	-	-	C													cagcctcctcctccagggtcINSccccccatgaagctggaaat							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:51872444_51872445T>TC	uc002xwo.3	+	1	3334_3335	c.2447_2448T>TC	c.(2446-2448)gtcfs	p.V816fs	TSHZ2_uc021wex.1_Frame_Shift_Ins_p.V813fs	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	816					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)			TCCTCCAGGGTCCCCCCCATGA	0.55													C	51872446	-	C	51872445	7	5	178	1	0	1	1	0	0	0	0	0	16621	842	30	0	2454	0	TSHZ2	20	51872445	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	1103401	51872445	11153075	693	96247											
GNAS	2778	broad.mit.edu	37	chr20	57428667	57428667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgggaggcttctggcCtacactggagcagcctggat	14	11	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:57428667C>A	uc002xzw.2	+	1	632	c.347C>A	c.(346-348)CCT>CAT	p.P116H	GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGCTTCTGGCCTACACTGGAG	0.632			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57428667	C	A	57428667	3	1	178	1	0	0	0	0	1	0	0	0	6510	681	24	5	1091	5	GNAS	20	57428667	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	5556222	57428667	5596853	694	96248											
DNAJC5	80331	broad.mit.edu	37	chr20	62562334	62562334	+	Frame_Shift_Del	DEL	C	C	-													ggagacggagttctacgtgtCccccgaggatctggaggcac							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr20:62562333_62562333TC>T	uc002yhf.3	+	3	684	c.451_451TC>T	c.(451-453)tccfs	p.S151fs	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	151					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTTCTACGTGTCCCCCGAGGA	0.642													-	62562334	C	-	62562334	7	5	178	1	0	1	0	1	0	0	0	0	4650	855	30	0	462	0	DNAJC5	20	62562334	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	5133667	62562334	463186	695	96249											
TPTE	7179	broad.mit.edu	37	chr21	10996110	10996110	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccttgcccagttcgacTtctttgccgcaccataaatc	5	15	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr21:10996110T>G	uc002yis.1	-	12		c.2076A>C						P56180	TPTE_HUMAN	Homo sapiens putative tyrosine phosphatase mRNA, complete cds.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		CCAGTTCGACTTCTTTGCCGC	0.403													G	10996110	T	G	10996110	1	3	178	0	1	0	0	0	0	0	0	0	16427	1624	56	5		5	TPTE	21	10996110	RNA	SNP	T	TCGA-CG-4465-01A-01D-1158-08		10996110	37133785	696	96250											
NCAM2	4685	broad.mit.edu	37	chr21	22910227	22910227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccagaaactatagaaatTaaagtttctaacgacatcat	4	7	2	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr21:22910227T>C	uc002yld.1	+	18	2712	c.2463T>C	c.(2461-2463)ATT>ATC	p.I821I	NCAM2_uc011acb.1_Silent_p.I679I	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	821	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		CTATAGAAATTAAAGTTTCTA	0.328													C	22910227	T	C	22910227	2	2	178	1	0	0	0	0	0	0	0	1	10203	1742	61	3		3	NCAM2	21	22910227	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	11914117	22910227	25219668	697	96251											
SUSD2	56241	broad.mit.edu	37	chr22	24583244	24583244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccggcctggaggtcagcGtgcagggcccgttcctgagt	18	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:24583244G>A	uc002zzn.1	+	11	1761	c.1717G>A	c.(1717-1719)GTG>ATG	p.V573M		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	573	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GGAGGTCAGCGTGCAGGGCCC	0.647													A	24583244	G	A	24583244	3	1	178	1	0	0	0	0	1	0	0	0	15405	1145	40	1	1759	1	SUSD2	22	24583244	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08		24583244	26721322	698	96252											
ZNRF3	84133	broad.mit.edu	37	chr22	29446744	29446744	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctcctggggtgggacgCgaggcccggataccccacgg	17	14	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:29446744C>T	uc003aeg.2	+	8	2440	c.2275C>T	c.(2275-2277)CGA>TGA	p.R759*	ZNRF3_uc003aeh.1_Nonsense_Mutation_p.R759*	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	859	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						GGGTGGGACGCGAGGCCCGGA	0.697													T	29446744	C	T	29446744	4	4	178	1	0	0	0	0	0	1	0	0	18210	760	27	1	2301	1	ZNRF3	22	29446744	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4863500	29446744	21857822	699	96253											
ASCC2	84164	broad.mit.edu	37	chr22	30221652	30221652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcaaggccaggagccagtCgaggtcattggctacgaagg	16	9	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:30221652C>T	uc003agr.2	-	3	304	c.199G>A	c.(199-201)GAC>AAC	p.D67N	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.D67N|ASCC2_uc011akr.1_Intron	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AGGAGCCAGTCGAGGTCATTG	0.493													T	30221652	C	T	30221652	3	4	178	1	0	0	0	0	1	0	0	0	1032	884	31	1	2146	1	ASCC2	22	30221652	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	774908	30221652	21082914	700	96254											
DDX17	10521	broad.mit.edu	37	chr22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-													cgggtttaggacaaacatctCcccccctcactgtaatctcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383													-	38895455	C	-	38895455	7	5	178	1	0	1	0	1	0	0	0	0	4344	855	30	0	1751	0	DDX17	22	38895455	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	8673803	38895455	12409111	701	96255											
ZC3H7B	23264	broad.mit.edu	37	chr22	41735150	41735150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggatgacttctcagaCggggatgtctttggcccaga	13	10	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:41735150C>T	uc003azw.2	+	9	987	c.771C>T	c.(769-771)GAC>GAT	p.D257D	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	273					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						ACTTCTCAGACGGGGATGTCT	0.662													T	41735150	C	T	41735150	2	4	178	1	0	0	0	0	0	0	0	1	17570	535	19	1		1	ZC3H7B	22	41735150	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2839695	41735150	9569416	702	96256											
SMC1B	27127	broad.mit.edu	37	chr22	45809402	45809402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaatgacctggcggcccCgccacgacttgaaattttcc	10	15	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:45809402C>T	uc003bgc.2	-	1	99	c.47G>A	c.(46-48)CGG>CAG	p.R16Q	SMC1B_uc003bgd.2_Missense_Mutation_p.R16Q|RIBC2_uc011aqs.1_5'Flank	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	16					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGGCGGCCCCGCCACGACTT	0.667													T	45809402	C	T	45809402	3	4	178	1	0	0	0	0	1	0	0	0	14782	652	23	1	3760	1	SMC1B	22	45809402	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4074252	45809402	5495164	703	96257											
CELSR1	9620	broad.mit.edu	37	chr22	46760471	46760471	+	Frame_Shift_Del	DEL	G	G	-													cgcccccgctctcctggtccGgggggtactctccacggtga					rs147302444	byFrequency	TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:46760470_46760470CG>C	uc003bhw.1	-	32	8718	c.8718_8718CG>G	c.(8716-8718)ccgfs	p.P2906fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2906					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		TCTCCTGGTCCGGGGGGTACT	0.697													-	46760471	G	-	46760471	7	5	178	1	0	1	0	1	0	0	0	0	3221	1116	39	0	339	0	CELSR1	22	46760471	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	951069	46760471	4544095	704	96258											
GRAMD4	23151	broad.mit.edu	37	chr22	47057337	47057337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaggccagcaatggagCaggtacaccctggtgggcgg	17	12	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:47057337C>T	uc003bhx.2	+	4	503	c.464C>T	c.(463-465)GCA>GTA	p.A155V	GRAMD4_uc010had.2_Missense_Mutation_p.A94V	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	155					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		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)		AGCAATGGAGCAGGTACACCC	0.453													T	47057337	C	T	47057337	3	4	178	1	0	0	0	0	1	0	0	0	6752	710	25	2	478	2	GRAMD4	22	47057337	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	296866	47057337	4247229	705	96259											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656526	50656526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgttcatgacgggcgccGccttctccgtgagcaggccc	13	15	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:50656526G>A	uc003bkb.1	-	24	5701	c.5189C>T	c.(5188-5190)GCG>GTG	p.A1730V	TUBGCP6_uc003bka.1_Missense_Mutation_p.A800V|TUBGCP6_uc010har.1_Missense_Mutation_p.A1722V|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1730					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		GACGGGCGCCGCCTTCTCCGT	0.697													A	50656526	G	A	50656526	3	1	178	1	0	0	0	0	1	0	0	0	16767	1087	38	1	278	1	TUBGCP6	22	50656526	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3599189	50656526	648040	706	96260											
SBF1	6305	broad.mit.edu	37	chr22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-													tggccccggtgctcccagctGggggggttgtacttcttgcg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					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)		TGCTCCCAGCTGGGGGGGTTG	0.647													-	50898756	G	-	50898756	7	5	178	1	0	1	0	1	0	0	0	0	13858	1335	47	0	2521	0	SBF1	22	50898756	Frame_Shift_Del	DEL	G	TCGA-CG-4465-01A-01D-1158-08	242230	50898756	405810	707	96261											
ADM2	79924	broad.mit.edu	37	chr22	50921041	50921041	+	Frame_Shift_Del	DEL	C	C	-													agcagcctgcagcccaggcaCcccgcaccccgacctgtggt							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chr22:50921041delC	uc003blj.2	+	2	421	c.156delC	c.(154-156)CACfs	p.H52fs	ADM2_uc011ary.1_Frame_Shift_Del_p.H52fs	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2 precursor	52					positive regulation of angiogenesis	extracellular region	hormone activity				0		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)		AGCCCAGGCACCCCGCACCCC	0.662													-	50921041	C	-	50921041	7	5	178	1	0	1	0	1	0	0	0	0	322	506	18	0	162	0	ADM2	22	50921041	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	22285	50921041	383525	708	96262											
GYG2	8908	broad.mit.edu	37	chrX	2779580	2779581	+	Frame_Shift_Ins	INS	-	-	G													agctttgccacagtgatgtgINSggggggccgtgtgcggattc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:2779579_2779580T>TG	uc004cqs.1	+	8	1229_1230	c.947_948T>TG	c.(946-948)gtgfs	p.V316fs	GYG2_uc004cqu.1_Frame_Shift_Ins_p.V285fs|GYG2_uc004cqx.2_Frame_Shift_Ins_p.V316fs|GYG2_uc004cqt.1_Frame_Shift_Ins_p.V285fs|GYG2_uc004cqv.1_Frame_Shift_Ins_p.V130fs|GYG2_uc004cqw.1_Frame_Shift_Ins_p.V276fs|GYG2_uc010ndc.1_Frame_Shift_Ins_p.V130fs	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	316					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(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)				CACAGTGATGTGGGGGGGCCGT	0.579													G	2779581	-	G	2779580	7	5	178	1	0	1	1	0	0	0	0	0	6906	1335	47	0	978	0	GYG2	23	2779580	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08		2779580	152490980	709	96263											
PHKA2	5256	broad.mit.edu	37	chrX	18912406	18912406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggtcatctccgtgtcCgagagcagcgtcagcaccat	11	13	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:18912406C>T	uc004cyv.3	-	32	3883	c.3453G>A	c.(3451-3453)TCG>TCA	p.S1151S	uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.S457S|PHKA2_uc010nfe.1_Silent_p.S183S|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1151					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TCTCCGTGTCCGAGAGCAGCG	0.617													T	18912406	C	T	18912406	2	4	178	1	0	0	0	0	0	0	0	1	11844	639	23	1		1	PHKA2	23	18912406	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	16132826	18912406	136358154	710	96264											
KLHL34	257240	broad.mit.edu	37	chrX	21674117	21674117	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaacggtccaggtcgAggtcgtagcccactacgttg	11	15	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:21674117A>T	uc004czz.1	-	1	2332	c.1790T>A	c.(1789-1791)CTC>CAC	p.L597H		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	597	Kelch 6.									ovary(1)	1						GTCCAGGTCGAGGTCGTAGCC	0.701													T	21674117	A	T	21674117	3	4	178	1	0	0	0	0	1	0	0	0	8387	304	11	5	148	5	KLHL34	23	21674117	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	2761711	21674117	133596443	711	96265											
POLA1	5422	broad.mit.edu	37	chrX	24745948	24745948	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaagttgaggcaatggctttGaaaccagacctggtgaatgt	12	6	0	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:24745948G>A	uc004dbl.2	+	15	1586	c.1563G>A	c.(1561-1563)TTG>TTA	p.L521L	POLA1_uc004dbm.2_Silent_p.L527L|POLA1_uc004dbn.2_Silent_p.L385L	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	521					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			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CAATGGCTTTGAAACCAGACC	0.403													A	24745948	G	A	24745948	2	1	178	1	0	0	0	0	0	0	0	1	12187	1281	45	4		4	POLA1	23	24745948	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3071831	24745948	130524612	712	96266											
DMD	1756	broad.mit.edu	37	chrX	31198546	31198546	+	Frame_Shift_Del	DEL	A	A	-													gccttttgcaactcgaccagAaaaaaagcagctttggcaga							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:31198545_31198545GA>G	uc004dda.1	-	68	10272	c.10028_10028TC>C	c.(10027-10029)tctfs	p.S3343fs	DMD_uc004dcq.1_Frame_Shift_Del_p.S614fs|DMD_uc004dcr.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcs.1_Frame_Shift_Del_p.S883fs|DMD_uc004dct.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcu.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcv.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcw.2_Frame_Shift_Del_p.S1999fs|DMD_uc004dcx.2_Frame_Shift_Del_p.S2002fs|DMD_uc004dcz.2_Frame_Shift_Del_p.S3220fs|DMD_uc004dcy.1_Frame_Shift_Del_p.S3339fs|DMD_uc004ddb.1_Frame_Shift_Del_p.S3335fs|DMD_uc004dcp.1_Frame_Shift_Del_p.S275fs|DMD_uc011mkb.1_Frame_Shift_Del_p.S275fs|DMD_uc004dcm.1_Frame_Shift_Del_p.S275fs|DMD_uc004dcn.1_Frame_Shift_Del_p.S275fs|DMD_uc004dco.1_Frame_Shift_Del_p.S275fs|DMD_uc010ngm.3_Frame_Shift_Del_p.S275fs	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3343	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)				AACTCGACCAGAAAAAAAGCA	0.413													-	31198546	A	-	31198546	7	5	178	1	0	1	0	1	0	0	0	0	4580	246	9	0	1164	0	DMD	23	31198546	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	6452598	31198546	124072014	713	96267											
FAM47A	158724	broad.mit.edu	37	chrX	34148626	34148626	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaacgcactcttttgtGcttggtgtatcttcctgaag	9	9	3	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:34148626G>C	uc004ddg.2	-	1	1803	c.1770C>G	c.(1768-1770)AGC>AGG	p.S590R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	590										ovary(4)|central_nervous_system(1)	5						ACTCTTTTGTGCTTGGTGTAT	0.473													C	34148626	G	C	34148626	3	2	178	1	0	0	0	0	1	0	0	0	5569	1310	46	5	609	5	FAM47A	23	34148626	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	2950080	34148626	121121934	714	96268											
CXorf59	286464	broad.mit.edu	37	chrX	36122657	36122657	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatactgcagcaataaTatgccccccatatgtgtgca	8	12	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:36122657T>C	uc004ddk.1	+	8	1080	c.894T>C	c.(892-894)AAT>AAC	p.N298N		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	298						integral to membrane				central_nervous_system(1)	1						GCAGCAATAATATGCCCCCCA	0.348													C	36122657	T	C	36122657	2	2	178	1	0	0	0	0	0	0	0	1	4115	1403	49	3		3	CXorf59	23	36122657	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1974031	36122657	119147903	715	96269											
ZNF630	57232	broad.mit.edu	37	chrX	47919908	47919908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttaaagattacatctggTtttatacctgaacaccctgt	5	9	1	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:47919908T>G	uc004div.3	-	4	411	c.159A>C	c.(157-159)AAA>AAC	p.K53N	ZNF630_uc010nhz.1_RNA|ZNF630_uc004diw.2_5'UTR	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						TTACATCTGGTTTTATACCTG	0.443													G	47919908	T	G	47919908	3	3	178	1	0	0	0	0	1	0	0	0	18051	1722	60	5	1822	5	ZNF630	23	47919908	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	11797251	47919908	107350652	716	96270											
PQBP1	10084	broad.mit.edu	37	chrX	48759531	48759531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaagaaaagttggaccGgagccatgacaagtcggaca	13	8	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:48759531G>A	uc004dle.2	+	5	503	c.314G>A	c.(313-315)CGG>CAG	p.R105Q	PQBP1_uc004dlf.2_Missense_Mutation_p.R105Q|PQBP1_uc004dlg.2_Missense_Mutation_p.R105Q|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.R105Q|PQBP1_uc004dli.2_Missense_Mutation_p.R105Q|PQBP1_uc004dlj.1_Missense_Mutation_p.R105Q|PQBP1_uc004dln.2_Missense_Mutation_p.R105Q|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R63Q|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Missense_Mutation_p.R63Q|PQBP1_uc010nij.2_Intron	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	105	Potential.|5 X 7 AA approximate tandem repeats of D- R-[SG]-H-D-K-S.|1-1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						AAGTTGGACCGGAGCCATGAC	0.582													A	48759531	G	A	48759531	3	1	178	1	0	0	0	0	1	0	0	0	12417	1116	39	1	328	1	PQBP1	23	48759531	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	839623	48759531	106511029	717	96271											
DGKK	139189	broad.mit.edu	37	chrX	50130606	50130606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttatctgaccccaggcCtttacaatatcaaccacaaa	4	12	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:50130606C>A	uc010njr.1	-	14	2124	c.2064G>T	c.(2062-2064)AAG>AAT	p.K688N		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	688					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			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GACCCCAGGCCTTTACAATAT	0.413													A	50130606	C	A	50130606	3	1	178	1	0	0	0	0	1	0	0	0	4472	680	24	5	1810	5	DGKK	23	50130606	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1371075	50130606	105139954	718	96272											
RIBC1	158787	broad.mit.edu	37	chrX	53457857	53457857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggacttctttcacaggcAggattacctgaattcagtaa	8	9	4	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:53457857A>G	uc004dsk.2	+	8	1214	c.1061A>G	c.(1060-1062)CAG>CGG	p.Q354R		NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	354											0						TTTCACAGGCAGGATTACCTG	0.493													G	53457857	A	G	53457857	3	3	178	1	0	0	0	0	1	0	0	0	13352	188	7	3	1118	3	RIBC1	23	53457857	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	3327251	53457857	101812703	719	96273											
WNK3	65267	broad.mit.edu	37	chrX	54259313	54259313	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtttgcttttgaaagatCttggtcgacgtggtgatgca	13	5	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:54259313C>A	uc004dtd.1	-	21	5067	c.4628G>T	c.(4627-4629)AGA>ATA	p.R1543I	WNK3_uc004dtc.1_Missense_Mutation_p.R1590I	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1543					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			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TTTGAAAGATCTTGGTCGACG	0.438													A	54259313	C	A	54259313	3	1	178	1	0	0	0	0	1	0	0	0	17376	913	32	5	649	5	WNK3	23	54259313	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	801456	54259313	101011247	720	96274											
FGD1	2245	broad.mit.edu	37	chrX	54521707	54521707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggggatccagtgggccGccaagagccgaacctgagcc	14	13	0	2			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:54521707G>A	uc004dtg.2	-	1	893	c.159C>T	c.(157-159)GGC>GGT	p.G53G		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	53	Pro-rich.				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			ovary(3)|skin(2)|central_nervous_system(1)	6						CCAGTGGGCCGCCAAGAGCCG	0.731													A	54521707	G	A	54521707	2	1	178	1	0	0	0	0	0	0	0	1	5832	1074	38	1		1	FGD1	23	54521707	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	262394	54521707	100748853	721	96275											
ALAS2	212	broad.mit.edu	37	chrX	55052384	55052384	+	Frame_Shift_Del	DEL	C	C	-													tgcctaggaggcttgtggggCcccgggcaagcactgggcag							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:55052383_55052383GC>G	uc004dua.4	-	1	189	c.51_51GC>C	c.(49-51)ggcfs	p.G17fs	ALAS2_uc004dub.4_Frame_Shift_Del_p.G41fs|ALAS2_uc004dud.4_Frame_Shift_Del_p.G17fs	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	17					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)	GGCTTGTGGGGCCCCGGGCAA	0.532													-	55052384	C	-	55052384	7	5	178	1	0	1	0	1	0	0	0	0	485	739	26	0	1753	0	ALAS2	23	55052384	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	530677	55052384	100218176	722	96276											
ZXDB	158586	broad.mit.edu	37	chrX	57619559	57619559	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacatgaagggccatgagCaggagaactcattcaaatgc	11	10	2	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:57619559C>T	uc004dvd.2	+	1	1291	c.1078C>T	c.(1078-1080)CAG>TAG	p.Q360*		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	360	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GGGCCATGAGCAGGAGAACTC	0.607													T	57619559	C	T	57619559	4	4	178	1	0	0	0	0	0	1	0	0	18248	711	25	2	1080	2	ZXDB	23	57619559	Nonsense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	2567175	57619559	97651001	723	96277											
ZMYM3	9203	broad.mit.edu	37	chrX	70468355	70468355	+	Frame_Shift_Del	DEL	C	C	-													agtgacagctcaggtgaatgCccccctcagggcttgtgcgc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:70468354_70468354GC>G	uc004dzh.2	-	9	1937	c.1758_1758GC>C	c.(1756-1758)ggcfs	p.G586fs	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Frame_Shift_Del_p.G586fs|ZMYM3_uc004dzj.2_Frame_Shift_Del_p.G586fs	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	586					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)					TCAGGTGAATGCCCCCCTCAG	0.597													-	70468355	C	-	70468355	7	5	178	1	0	1	0	1	0	0	0	0	17698	739	26	0	2419	0	ZMYM3	23	70468355	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	12848796	70468355	84802205	724	96278											
PHKA1	5255	broad.mit.edu	37	chrX	71915722	71915722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgaaggattctactttaTccacctgaaaagaacaaaaa	5	7	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:71915722T>C	uc004eax.3	-	4	591	c.290A>G	c.(289-291)GAT>GGT	p.D97G	PHKA1_uc004eay.3_Missense_Mutation_p.D97G|PHKA1_uc011mqi.1_Missense_Mutation_p.D97G	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	97					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TTCTACTTTATCCACCTGAAA	0.363													C	71915722	T	C	71915722	3	2	178	1	0	0	0	0	1	0	0	0	11843	1435	50	3	3497	3	PHKA1	23	71915722	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1447367	71915722	83354838	725	96279											
RPS6KA6	27330	broad.mit.edu	37	chrX	83352796	83352796	+	Frame_Shift_Del	DEL	A	A	-													ttacccagccaacattgtgtAaaaaaggactcctaaactcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:83352795_83352795TA>T	uc004eej.2	-	18	1874	c.1838_1838TA>A	c.(1837-1839)tacfs	p.Y613fs	RPS6KA6_uc011mqt.2_Frame_Shift_Del_p.Y613fs|RPS6KA6_uc011mqu.2_Frame_Shift_Del_p.Y510fs	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	613	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CAACATTGTGTAAAAAAGGAC	0.303													-	83352796	A	-	83352796	7	5	178	1	0	1	0	1	0	0	0	0	13655	362	13	0	416	0	RPS6KA6	23	83352796	Frame_Shift_Del	DEL	A	TCGA-CG-4465-01A-01D-1158-08	11437074	83352796	71917764	726	96280											
APOOL	139322	broad.mit.edu	37	chrX	84258931	84258931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagacatggcggccatcAgggtaagcgaaaaccaactt	11	9	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:84258931A>G	uc004eem.2	+	1	27	c.13A>G	c.(13-15)AGG>GGG	p.R5G	APOOL_uc010nmp.2_RNA	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like precursor	5						extracellular region					0						GGCGGCCATCAGGGTAAGCGA	0.507													G	84258931	A	G	84258931	3	3	178	1	0	0	0	0	1	0	0	0	814	179	7	3	15	3	APOOL	23	84258931	Missense_Mutation	SNP	A	TCGA-CG-4465-01A-01D-1158-08	906135	84258931	71011629	727	96281											
DACH2	117154	broad.mit.edu	37	chrX	85404009	85404009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtactgttgagcaggtcCggatcctccgcgggctgggg	17	10	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:85404009C>T	uc004eew.2	+	1	555	c.385C>T	c.(385-387)CGG>TGG	p.R129W	DACH2_uc004eex.2_Missense_Mutation_p.R129W|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	129	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TGAGCAGGTCCGGATCCTCCG	0.547													T	85404009	C	T	85404009	3	4	178	1	0	0	0	0	1	0	0	0	4221	643	23	1	387	1	DACH2	23	85404009	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1145078	85404009	69866551	728	96282											
KLHL4	56062	broad.mit.edu	37	chrX	86887421	86887421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcctcccatgtcaacacaTcggcacggcttaggtaagag	10	12	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:86887421T>C	uc004efb.2	+	7	1718	c.1536T>C	c.(1534-1536)CAT>CAC	p.H512H	KLHL4_uc004efa.2_Silent_p.H512H	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	512	Kelch 2.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TGTCAACACATCGGCACGGCT	0.368													C	86887421	T	C	86887421	2	2	178	1	0	0	0	0	0	0	0	1	8391	1432	50	3		3	KLHL4	23	86887421	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	1483412	86887421	68383139	729	96283											
TCEAL6	158931	broad.mit.edu	37	chrX	101396280	101396281	+	Frame_Shift_Ins	INS	-	-	T													cgttttccaggtttccttcaINStttttattgtagggtttttc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:101396280_101396281insT	uc004eiq.2	-	3	184_185	c.23_24insA	c.(22-24)AATfs	p.N8fs		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GGTTTCCTTCATTTTTATTGTA	0.257													T	101396281	-	T	101396280	7	5	178	1	0	1	1	0	0	0	0	0	15672	214	8	0	531	0	TCEAL6	23	101396280	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	14508859	101396280	53874280	730	96284	480	2									
TCEAL6	158931	broad.mit.edu	37	chrX	101396281	101396282	+	Frame_Shift_Ins	INS	-	-	T													gttttccaggtttccttcatINSttttattgtagggtttttcc							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:101396280_101396281A>AT	uc022cas.1	-	0	23_24	c.23_24T>AT	c.(22-24)aatfs	p.N8fs	TCEAL6_uc004eiq.3_Frame_Shift_Ins_p.N8fs	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GGTTTCCTTCATTTTTATTGTA	0.465													T	101396282	-	T	101396281	7	5	178	1	0	1	1	0	0	0	0	0	15672	1493	52	0	532	0	TCEAL6	23	101396281	Frame_Shift_Ins	INS	-	TCGA-CG-4465-01A-01D-1158-08	1	101396281	53874279	731	96285	480	2									
GPRASP2	114928	broad.mit.edu	37	chrX	101969939	101969939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccaggcaactactgggGcaaggcccaaaactgagacc	12	13	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:101969939G>A	uc004ejk.2	+	4	1476	c.142G>A	c.(142-144)GCA>ACA	p.A48T	GPRASP2_uc004ejl.2_Missense_Mutation_p.A48T|GPRASP2_uc004ejm.2_Missense_Mutation_p.A48T|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	48						cytoplasm	protein binding			ovary(1)	1						AACTACTGGGGCAAGGCCCAA	0.552													A	101969939	G	A	101969939	3	1	178	1	0	0	0	0	1	0	0	0	6723	1203	42	2	144	2	GPRASP2	23	101969939	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	573658	101969939	53300621	732	96286											
NXF3	56000	broad.mit.edu	37	chrX	102335077	102335077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctctcttctcaccTtacaggttggtaacctcttg	7	13	3	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:102335077T>C	uc004eju.2	-	11	1066	c.995A>G	c.(994-996)AAG>AGG	p.K332R	NXF3_uc010noi.1_Missense_Mutation_p.K182R	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	332						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCTTCTCACCTTACAGGTTGG	0.527													C	102335077	T	C	102335077	3	2	178	1	0	0	0	0	1	0	0	0	10785	1623	56	3	636	3	NXF3	23	102335077	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	365138	102335077	52935483	733	96287											
TSC22D3	1831	broad.mit.edu	37	chrX	107018613	107018613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttgcagcagtcgaggcCgacaggtgagcggcaatcga	16	10	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:107018613C>T	uc004enh.2	-	1	405	c.37G>A	c.(37-39)GGC>AGC	p.G13S	TSC22D3_uc004eni.2_Missense_Mutation_p.G13S|TSC22D3_uc004enj.2_Missense_Mutation_p.G13S	NM_198057	NP_932174	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 1	Error:Variant_position_missing_in_Q99576_after_alignment							sequence-specific DNA binding transcription factor activity				0						CAGTCGAGGCCGACAGGTGAG	0.687													T	107018613	C	T	107018613	3	4	178	1	0	0	0	0	1	0	0	0	16606	652	23	1	703	1	TSC22D3	23	107018613	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4683536	107018613	48251947	734	96288											
COL4A6	1288	broad.mit.edu	37	chrX	107417676	107417676	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcacacttacactttcTcctggcattcctgggaaacc	7	14	2	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:107417676T>C	uc004enw.3	-	31	3238	c.3135A>G	c.(3133-3135)GGA>GGG	p.G1045G	COL4A6_uc004env.3_Silent_p.G1044G|COL4A6_uc011msn.1_Silent_p.G1044G|COL4A6_uc010npk.2_Silent_p.G1044G	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1045	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						TTACACTTTCTCCTGGCATTC	0.517									Alport_syndrome_with_Diffuse_Leiomyomatosis				C	107417676	T	C	107417676	2	2	178	1	0	0	0	0	0	0	0	1	3695	1538	54	3		3	COL4A6	23	107417676	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	399063	107417676	47852884	735	96289											
RGAG1	57529	broad.mit.edu	37	chrX	109694416	109694416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcctctgaggcaatgTccacaccattaatgctagcc	6	14	2	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:109694416T>C	uc004eor.1	+	3	817	c.571T>C	c.(571-573)TCC>CCC	p.S191P	RGAG1_uc011msr.1_Missense_Mutation_p.S191P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	191										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGAGGCAATGTCCACACCATT	0.483													C	109694416	T	C	109694416	3	2	178	1	0	0	0	0	1	0	0	0	13274	1667	58	3	573	3	RGAG1	23	109694416	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2276740	109694416	45576144	736	96290											
PLS3	5358	broad.mit.edu	37	chrX	114883835	114883835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagcccaagatggtcaTgactgtgtttgcatgtttga	11	6	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:114883835T>C	uc004eqd.2	+	16	2237	c.1847T>C	c.(1846-1848)ATG>ACG	p.M616T	PLS3_uc011mtf.1_Missense_Mutation_p.M603T|PLS3_uc004eqe.2_Missense_Mutation_p.M616T|PLS3_uc011mtg.1_Missense_Mutation_p.M589T|PLS3_uc011mth.1_Missense_Mutation_p.M571T|PLS3_uc011mti.1_Missense_Mutation_p.M292T|PLS3_uc011mtj.1_Missense_Mutation_p.M210T|PLS3_uc011mtk.1_Missense_Mutation_p.M277T|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	616	CH 4.|Actin-binding 2.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						AAGATGGTCATGACTGTGTTT	0.463													C	114883835	T	C	114883835	3	2	178	1	0	0	0	0	1	0	0	0	12108	1464	51	3	1905	3	PLS3	23	114883835	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	5189419	114883835	40386725	737	96291											
CXorf56	63932	broad.mit.edu	37	chrX	118699280	118699280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tattcctcccggtcccgagtGtcagagcagactactgaccg	10	14	1	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:118699280G>C	uc004erk.1	-	1	85	c.39C>G	c.(37-39)GAC>GAG	p.D13E	CXorf56_uc004erj.1_5'UTR|CXorf56_uc011mtu.1_Missense_Mutation_p.D13E	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	13							protein binding				0						GGTCCCGAGTGTCAGAGCAGA	0.547													C	118699280	G	C	118699280	3	2	178	1	0	0	0	0	1	0	0	0	4112	1368	48	5	657	5	CXorf56	23	118699280	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3815445	118699280	36571280	738	96292											
ATP1B4	23439	broad.mit.edu	37	chrX	119504684	119504684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tataccaaccttcacggagcGggtaaagcctcctggtgagt	11	11	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:119504684G>T	uc004esr.2	+	3	527	c.443G>T	c.(442-444)CGG>CTG	p.R148L	ATP1B4_uc004esq.2_Missense_Mutation_p.R144L|ATP1B4_uc011mtx.1_Missense_Mutation_p.R113L|ATP1B4_uc011mty.1_Intron	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	148	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2						TTCACGGAGCGGGTAAAGCCT	0.478													T	119504684	G	T	119504684	3	4	178	1	0	0	0	0	1	0	0	0	1135	1116	39	5	453	5	ATP1B4	23	119504684	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	805404	119504684	35765876	739	96293											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686358	125686358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcagcctctgtaccgcGtagccccgcagctcgccatc	11	18	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:125686358G>A	uc004eul.2	-	1	485	c.234C>T	c.(232-234)TAC>TAT	p.Y78Y		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	78										skin(3)|ovary(1)	4						TCTGTACCGCGTAGCCCCGCA	0.672													A	125686358	G	A	125686358	2	1	178	1	0	0	0	0	0	0	0	1	4264	1140	40	1		1	DCAF12L1	23	125686358	Silent	SNP	G	TCGA-CG-4465-01A-01D-1158-08	6181674	125686358	29584202	740	96294											
ACTRT1	139741	broad.mit.edu	37	chrX	127185759	127185759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaggcatagagcgctgCcaccgcatgattagacaggt	14	10	0	4			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:127185759C>T	uc004eum.2	-	1	624	c.427G>A	c.(427-429)GCA>ACA	p.A143T		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	143						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						TAGAGCGCTGCCACCGCATGA	0.527													T	127185759	C	T	127185759	3	4	178	1	0	0	0	0	1	0	0	0	218	739	26	2	707	2	ACTRT1	23	127185759	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	1499401	127185759	28084801	741	96295											
HS6ST2	90161	broad.mit.edu	37	chrX	132092270	132092270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcgagtggcccagggCggccaggccccgagtgagca	16	14	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:132092270C>T	uc011mve.1	-	2	777	c.361G>A	c.(361-363)GCC>ACC	p.A121T	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mvd.1_Missense_Mutation_p.A121T	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	121	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					TGGCCCAGGGCGGCCAGGCCC	0.701													T	132092270	C	T	132092270	3	4	178	1	0	0	0	0	1	0	0	0	7371	768	27	1		1	HS6ST2	23	132092270	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	4906511	132092270	23178290	742	96296											
SLITRK2	84631	broad.mit.edu	37	chrX	144904206	144904206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcaattactccaacgCggtgactcttcacctaggta	7	11	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:144904206C>T	uc004fcd.2	+	5	1253	c.263C>T	c.(262-264)GCG>GTG	p.A88V	SLITRK2_uc010nsp.2_Missense_Mutation_p.A88V|SLITRK2_uc010nso.2_Missense_Mutation_p.A88V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A88V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A88V|SLITRK2_uc011mws.1_Missense_Mutation_p.A88V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A88V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A88V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	88	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TACTCCAACGCGGTGACTCTT	0.473													T	144904206	C	T	144904206	3	4	178	1	0	0	0	0	1	0	0	0	14743	768	27	1	265	1	SLITRK2	23	144904206	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	12811936	144904206	10366354	743	96297											
FMR1	2332	broad.mit.edu	37	chrX	147010315	147010315	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggatgtgccagaagacTtacggcaaatgtaagttgat	12	6	0	3			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:147010315T>C	uc010nst.2	+	5	598	c.409T>C	c.(409-411)TTA>CTA	p.L137L	FMR1_uc011mwz.1_Silent_p.L137L|FMR1_uc004fcj.2_Silent_p.L137L|FMR1_uc004fck.3_Silent_p.L137L|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	137					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGAAGACTTACGGCAAAT	0.333									Fragile_X_syndrome				C	147010315	T	C	147010315	2	2	178	1	0	0	0	0	0	0	0	1	5960	1606	56	3		3	FMR1	23	147010315	Silent	SNP	T	TCGA-CG-4465-01A-01D-1158-08	2106109	147010315	8260245	744	96298											
AFF2	2334	broad.mit.edu	37	chrX	148037360	148037360	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtctcattagggagaaAgcccgtccacggcccactca	9	15	3	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:148037360A>G	uc004fcp.2	+	11	2264	c.1785A>G	c.(1783-1785)AAA>AAG	p.K595K	AFF2_uc004fcq.2_Silent_p.K585K|AFF2_uc004fcr.2_Silent_p.K556K|AFF2_uc011mxb.1_Silent_p.K560K|AFF2_uc004fcs.2_Silent_p.K562K|AFF2_uc011mxc.1_Silent_p.K236K	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	595					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTAGGGAGAAAGCCCGTCCAC	0.468													G	148037360	A	G	148037360	2	3	178	1	0	0	0	0	0	0	0	1	357	69	3	3		3	AFF2	23	148037360	Silent	SNP	A	TCGA-CG-4465-01A-01D-1158-08	1027045	148037360	7233200	745	96299											
MAGEA12	4111	broad.mit.edu	37	chrX	151900005	151900005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggaactcgtagcatgcagGatcactgccggggacctgcc	13	13	1	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:151900005G>A	uc010ntp.2	-	3	1150	c.796C>T	c.(796-798)CCT>TCT	p.P266S	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.P266S	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	266	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCATGCAGGATCACTGCCG	0.552													A	151900005	G	A	151900005	3	1	178	1	0	0	0	0	1	0	0	0	9166	1174	41	4	152	4	MAGEA12	23	151900005	Missense_Mutation	SNP	G	TCGA-CG-4465-01A-01D-1158-08	3862645	151900005	3370555	746	96300											
ATP2B3	492	broad.mit.edu	37	chrX	152818542	152818542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactccggggctttcggcctCgggaccgggacgacatggtg	16	12	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:152818542C>T	uc004fht.1	+	11	1999	c.1873C>T	c.(1873-1875)CGG>TGG	p.R625W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R625W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	625	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCGGCCTCGGGACCGGGA	0.612													T	152818542	C	T	152818542	3	4	178	1	0	0	0	0	1	0	0	0	1141	875	31	1	1915	1	ATP2B3	23	152818542	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	918537	152818542	2452018	747	96301											
PNCK	139728	broad.mit.edu	37	chrX	152938109	152938109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagggccacgaggtgtgCggagccccgctcctgggcca	16	14	0	1	rs144452893		TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:152938109C>T	uc011myu.1	-	3	547	c.361G>A	c.(361-363)GCA>ACA	p.A121T	PNCK_uc011myt.1_Missense_Mutation_p.A55T|PNCK_uc004fia.2_Missense_Mutation_p.A50T|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.A121T|PNCK_uc011myv.1_Missense_Mutation_p.A65T|PNCK_uc011myw.1_Missense_Mutation_p.A65T	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	38	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGAGGTGTGCGGAGCCCCGC	0.532													T	152938109	C	T	152938109	3	4	178	1	0	0	0	0	1	0	0	0	12145	768	27	1	955	1	PNCK	23	152938109	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	119567	152938109	2332451	748	96302											
FLNA	2316	broad.mit.edu	37	chrX	153577261	153577261	+	Frame_Shift_Del	DEL	C	C	-													gctgcctgggatgtgctcgtCcccccatttgaccaccagtg							TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:153577261delC	uc004fkk.2	-	48	8149	c.7900delG	c.(7900-7902)GACfs	p.D2634fs	FLNA_uc004fki.2_Frame_Shift_Del_p.D674fs|FLNA_uc011mzn.1_Frame_Shift_Del_p.D767fs|FLNA_uc010nuu.1_Frame_Shift_Del_p.D2626fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2634	Self-association site, tail.|Filamin 24.			D -> H (in Ref. 2; CAA37495).	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)					ATGTGCTCGTCCCCCCATTTG	0.667													-	153577261	C	-	153577261	7	5	178	1	0	1	0	1	0	0	0	0	5933	855	30	0	47	0	FLNA	23	153577261	Frame_Shift_Del	DEL	C	TCGA-CG-4465-01A-01D-1158-08	639152	153577261	1693299	749	96303											
PLXNA3	55558	broad.mit.edu	37	chrX	153698447	153698447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaccatgccgaccatcgCgagggggaccgtggcagcaa	14	14	0	0			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:153698447C>T	uc004flm.2	+	29	5096	c.4923C>T	c.(4921-4923)CGC>CGT	p.R1641R		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1641	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					CCGACCATCGCGAGGGGGACC	0.622													T	153698447	C	T	153698447	2	4	178	1	0	0	0	0	0	0	0	1	12121	755	27	1		1	PLXNA3	23	153698447	Silent	SNP	C	TCGA-CG-4465-01A-01D-1158-08	121186	153698447	1572113	750	96304											
F8	2157	broad.mit.edu	37	chrX	154128211	154128211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatgaagtctggccagcTttggggcccactgtcctttg	11	10	1	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:154128211T>C	uc004fmt.2	-	21	6374	c.6203A>G	c.(6202-6204)AAG>AGG	p.K2068R	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2068	F5/8 type C 1.				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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	TCTGGCCAGCTTTGGGGCCCA	0.418													C	154128211	T	C	154128211	3	2	178	1	0	0	0	0	1	0	0	0	5350	1609	56	3	904	3	F8	23	154128211	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	429764	154128211	1142349	751	96305											
F8	2157	broad.mit.edu	37	chrX	154194366	154194366	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaatcggacttttttgtacTtcctaccaatccgctgaggg	8	10	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:154194366T>A	uc004fmt.2	-	9	1493	c.1322A>T	c.(1321-1323)AAG>ATG	p.K441M		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	441	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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	TTTTTTGTACTTCCTACCAAT	0.373													A	154194366	T	A	154194366	3	1	178	1	0	0	0	0	1	0	0	0	5350	1609	56	5	5833	5	F8	23	154194366	Missense_Mutation	SNP	T	TCGA-CG-4465-01A-01D-1158-08	66155	154194366	1076194	752	96306											
FUNDC2	65991	broad.mit.edu	37	chrX	154261743	154261743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagaagcagccatggtggCgtaagctgttcgggcaggaa	15	8	0	1			TCGA-CG-4465-01A-01D-1158-08	TCGA-CG-4465-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a4d2322-4237-4711-81fa-af35e6172e7a	13f23952-b672-4ba2-a98f-33a96de06f95	g.chrX:154261743C>T	uc004fmw.2	+	2	349	c.199C>T	c.(199-201)CGT>TGT	p.R67C		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	67						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCATGGTGGCGTAAGCTGTT	0.433													T	154261743	C	T	154261743	3	4	178	1	0	0	0	0	1	0	0	0	6098	768	27	1	205	1	FUNDC2	23	154261743	Missense_Mutation	SNP	C	TCGA-CG-4465-01A-01D-1158-08	67377	154261743	1008817	753	96307											
UBXN11	91544	broad.mit.edu	37	chr1	26612350	26612350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagggctggaagggcccGtcgaacatcatgatgccatt	13	9	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:26612350G>A	uc001blw.2	-	10	1011	c.738C>T	c.(736-738)GAC>GAT	p.D246D	UBXN11_uc001blz.1_Silent_p.D213D|UBXN11_uc001blv.2_Silent_p.D208D|UBXN11_uc001bly.2_Silent_p.D126D|UBXN11_uc001blx.2_Silent_p.D4D|UBXN11_uc001bma.2_Silent_p.D213D|UBXN11_uc001bmb.1_Silent_p.D246D|UBXN11_uc010ofb.1_Silent_p.D171D|UBXN11_uc010ofc.1_Silent_p.D88D	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	246	SEP.					cytoplasm|cytoskeleton				ovary(1)	1						GGAAGGGCCCGTCGAACATCA	0.637											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	26612350	G	A	26612350	2	1	179	1	0	0	0	0	0	0	0	1	16910	1136	40	1		1	UBXN11	1	26612350	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08		26612350	222638271	1	96308											
COL16A1	1307	broad.mit.edu	37	chr1	32138096	32138096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaggatctccctcactgTtgtcaccctggagaaggatg	11	12	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:32138096T>C	uc001btk.1	-	47	3391	c.3026A>G	c.(3025-3027)AAC>AGC	p.N1009S	COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Missense_Mutation_p.N822S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1009	Nonhelical region 3 (NC3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCTCACTGTTGTCACCCTG	0.607													C	32138096	T	C	32138096	3	2	179	1	0	0	0	0	1	0	0	0	3673	1725	60	3	1888	3	COL16A1	1	32138096	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	5525746	32138096	217112525	2	96309											
ZMYM4	9202	broad.mit.edu	37	chr1	35824984	35824984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacttatgaacgtgaaaaaCggttggataaaccccataaa	7	7	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:35824984C>T	uc001byt.2	+	3	624	c.544C>T	c.(544-546)CGG>TGG	p.R182W	ZMYM4_uc009vuu.2_Missense_Mutation_p.R150W|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_Translation_Start_Site	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	182					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGTGAAAAACGGTTGGATAA	0.318													T	35824984	C	T	35824984	3	4	179	1	0	0	0	0	1	0	0	0	17699	527	19	1	554	1	ZMYM4	1	35824984	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	3686888	35824984	213425637	3	96310											
MACF1	23499	broad.mit.edu	37	chr1	39800562	39800562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagatagttcagagttcagcGatcacagggctcagattgaa	11	7	4	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:39800562G>A	uc010oiu.1	+	1	3753	c.3622G>A	c.(3622-3624)GAT>AAT	p.D1208N	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2773					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			AGAGTTCAGCGATCACAGGGC	0.378													A	39800562	G	A	39800562	3	1	179	1	0	0	0	0	1	0	0	0	9144	1058	37	1	8393	1	MACF1	1	39800562	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	3975578	39800562	209450059	4	96311											
LEPR	3953	broad.mit.edu	37	chr1	66101927	66101927	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcatcagtgacatgtggTcctcttcttttggagcctga	10	10	3	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:66101927T>C	uc001dci.2	+	20	2929	c.2727T>C	c.(2725-2727)GGT>GGC	p.G909G	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	909	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGACATGTGGTCCTCTTCTTT	0.348													C	66101927	T	C	66101927	2	2	179	1	0	0	0	0	0	0	0	1	8728	1654	58	3		3	LEPR	1	66101927	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	26301365	66101927	183148694	5	96312											
LRRC40	55631	broad.mit.edu	37	chr1	70618204	70618204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgagatcgacatcagaaaCcatttccttcagttctacca	5	12	3	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:70618204C>A	uc001der.1	-	12	1403	c.1351G>T	c.(1351-1353)GTT>TTT	p.V451F		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	451	LRR 15.									ovary(1)	1						ACATCAGAAACCATTTCCTTC	0.328													A	70618204	C	A	70618204	3	1	179	1	0	0	0	0	1	0	0	0	8998	507	18	5	473	5	LRRC40	1	70618204	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	4516277	70618204	178632417	6	96313											
ZRANB2	9406	broad.mit.edu	37	chr1	71536585	71536585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagatcgagactttgagCgacttcgtctattagatttc	10	7	1	5			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:71536585C>T	uc001dft.2	-	7	675	c.608G>A	c.(607-609)CGC>CAC	p.R203H	ZRANB2_uc001dfs.2_Missense_Mutation_p.R203H	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	203	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			ovary(2)	2						AGACTTTGAGCGACTTCGTCT	0.418													T	71536585	C	T	71536585	3	4	179	1	0	0	0	0	1	0	0	0	18220	768	27	1	438	1	ZRANB2	1	71536585	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	918381	71536585	177714036	7	96314											
MSH4	4438	broad.mit.edu	37	chr1	76378529	76378529	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaagtacaaagaagAttttcccaggactgaacaag	9	7	0	5	rs138824189		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:76378529A>T	uc001dhd.1	+	20	2809	c.2768A>T	c.(2767-2769)GAT>GTT	p.D923V		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	923					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						TACAAAGAAGATTTTCCCAGG	0.328								MMR					T	76378529	A	T	76378529	3	4	179	1	0	0	0	0	1	0	0	0	9872	333	12	5	2846	5	MSH4	1	76378529	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	4841944	76378529	172872092	8	96315											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779494	76779494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatgttttgtagagaaAgtctgtgattgctgtgagct	11	3	1	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:76779494A>C	uc001dhh.2	+	2	186	c.23A>C	c.(22-24)AAG>ACG	p.K8T	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.K8T|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	8	Cytoplasmic (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						TTGTAGAGAAAGTCTGTGATT	0.378													C	76779494	A	C	76779494	3	2	179	1	0	0	0	0	1	0	0	0	15224	72	3	5	29	5	ST6GALNAC3	1	76779494	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	400965	76779494	172471127	9	96316											
ZZZ3	26009	broad.mit.edu	37	chr1	78097749	78097749	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcattttgagaaatttcacCaggatttgtaggagattgac	9	5	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:78097749C>G	uc001dhq.2	-	5	1767	c.1291G>C	c.(1291-1293)GGT>CGT	p.G431R	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.G431R|ZZZ3_uc001dhp.2_Missense_Mutation_p.G431R	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						GAAATTTCACCAGGATTTGTA	0.353													G	78097749	C	G	78097749	3	3	179	1	0	0	0	0	1	0	0	0	18253	594	21	5	1464	5	ZZZ3	1	78097749	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	1318255	78097749	171152872	10	96317											
SYCP1	6847	broad.mit.edu	37	chr1	115527485	115527485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagttcagaaactactgatcTtttggtaaaaattttacaaa	5	5	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:115527485T>G	uc001efr.2	+	30	2908	c.2699T>G	c.(2698-2700)CTT>CGT	p.L900R	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.L900R|SYCP1_uc009wgw.2_Missense_Mutation_p.L875R	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	900					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		ACTACTGATCTTTTGGtaaaa	0.209													G	115527485	T	G	115527485	3	3	179	1	0	0	0	0	1	0	0	0	15428	1609	56	5	2813	5	SYCP1	1	115527485	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	37429736	115527485	133723136	11	96318											
NGF	4803	broad.mit.edu	37	chr1	115829179	115829179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggtgaacggagtcgccGctttttaaacagcctggggt	15	9	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:115829179G>A	uc001efu.1	-	3	407	c.238C>T	c.(238-240)CGG>TGG	p.R80W		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	80					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			upper_aerodigestive_tract(2)	2	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)	CGGAGTCGCCGCTTTTTAAAC	0.647													A	115829179	G	A	115829179	3	1	179	1	0	0	0	0	1	0	0	0	10395	1086	38	1	491	1	NGF	1	115829179	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	301694	115829179	133421442	12	96319											
FLG	2312	broad.mit.edu	37	chr1	152279959	152279959	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgccttcctccactgcttGaccccgggtgtccatgaatg	9	16	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:152279959G>C	uc001ezu.1	-	3	7439	c.7403C>G	c.(7402-7404)TCA>TGA	p.S2468*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2468	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACTGCTTGACCCCGGGTG	0.567									Ichthyosis				C	152279959	G	C	152279959	4	2	179	1	0	0	0	0	0	1	0	0	5922	1294	45	5	4786	5	FLG	1	152279959	Nonsense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	36450780	152279959	96970662	13	96320											
PBXIP1	57326	broad.mit.edu	37	chr1	154926160	154926160	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacctcggagccagcaAgcacccagctattatcagag	8	14	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:154926160A>C	uc001ffr.2	-	2	97	c.38T>G	c.(37-39)CTT>CGT	p.L13R	PBXIP1_uc001ffs.2_Intron|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	13					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	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)			GGAGCCAGCAAGCACCCAGCT	0.587													C	154926160	A	C	154926160	3	2	179	1	0	0	0	0	1	0	0	0	11496	72	3	5	2197	5	PBXIP1	1	154926160	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	2646201	154926160	94324461	14	96321											
GON4L	54856	broad.mit.edu	37	chr1	155650226	155650230	+	Frame_Shift_Del	DEL	ATCAG	ATCAG	-													cagtttcaaacagatcttccAtcagctcatttgcttccttt							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:155650225_155650229CATCAG>C	uc010pgi.2	-	1	605_609	c.413_417CTGATG>G	c.(412-417)ctgatgfs	p.L138fs	GON4L_uc021paz.1_Intron|GON4L_uc010pgh.2_5'Flank|GON4L_uc009wqt.3_5'UTR|GON4L_uc001flh.3_Frame_Shift_Del_p.L138fs|GON4L_uc001fll.3_Start_Codon_Del|GON4L_uc001flk.3_5'UTR|GON4L_uc001flm.3_Intron|GON4L_uc009wqu.3_5'UTR|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_5'UTR|GON4L_uc001flj.3_Start_Codon_Del|GON4L_uc001fli.3_Start_Codon_Del|GON4L_uc001flo.3_5'UTR|GON4L_uc001fln.3_Frame_Shift_Del_p.L66fs|GON4L_uc010pgj.2_Frame_Shift_Del_p.L66fs|GON4L_uc001flp.3_Start_Codon_Del|GON4L_uc009wqx.3_Frame_Shift_Del_p.L138fs|GON4L_uc010pgk.2_Frame_Shift_Del_p.L138fs	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	589					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)					ACAGATCTTCCATCAGCTCATTTGC	0.366													-	155650230	ATCAG	-	155650226	7	5	179	1	0	1	0	1	0	0	0	0	6572	217	8	0		0	GON4L	1	155650226	Frame_Shift_Del	DEL	ATCAG	TCGA-CG-4466-01A-01D-1158-08	724066	155650226	93600395	15	96322											
FCRL3	115352	broad.mit.edu	37	chr1	157668284	157668284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttttattttcaacaacTtctcatcgtgataccaatat	3	9	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:157668284T>G	uc001frb.2	-	4	480	c.188A>C	c.(187-189)AAG>ACG	p.K63T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.K63T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.K63T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	63	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TTTCAACAACTTCTCATCGTG	0.453													G	157668284	T	G	157668284	3	3	179	1	0	0	0	0	1	0	0	0	5796	1609	56	5	2064	5	FCRL3	1	157668284	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	2018058	157668284	91582337	16	96323											
CD1E	913	broad.mit.edu	37	chr1	158324300	158324300	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgggtgacctgcagacTcatggctgggacactgtctt	14	10	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:158324300T>C	uc001fse.2	+	2	431	c.192T>C	c.(190-192)ACT>ACC	p.T64T	CD1E_uc010pid.1_Silent_p.T62T|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.T64T|CD1E_uc001fsk.2_Silent_p.T64T|CD1E_uc001fsj.2_Silent_p.T64T|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.T64T|CD1E_uc001fry.2_Silent_p.T64T|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.T64T|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.T64T|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	64					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					ACCTGCAGACTCATGGCTGGG	0.562													C	158324300	T	C	158324300	2	2	179	1	0	0	0	0	0	0	0	1	2978	1538	54	3		3	CD1E	1	158324300	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	656016	158324300	90926321	17	96324											
SPTA1	6708	broad.mit.edu	37	chr1	158627318	158627318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtattatctacaataggttcCttctctctgatccatgtttc	5	10	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:158627318C>A	uc001fst.1	-	19	2953	c.2754G>T	c.(2752-2754)AAG>AAT	p.K918N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	918	Spectrin 10.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAATAGGTTCCTTCTCTCTGA	0.473													A	158627318	C	A	158627318	3	1	179	1	0	0	0	0	1	0	0	0	15115	680	24	5	4641	5	SPTA1	1	158627318	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	303018	158627318	90623303	18	96325											
USP21	27005	broad.mit.edu	37	chr1	161133410	161133410	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaggacagcaagattgtggGtatggaatggggcaaagcaa	16	4	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:161133410G>C	uc010pke.1	+	8	1490	c.1113_splice	c.e8+2	p.V371_splice	USP21_uc010pkc.1_Splice_Site_p.D372_splice|USP21_uc010pkd.1_Splice_Site_p.D372_splice|USP21_uc010pkf.1_Splice_Site_p.V371_splice|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21						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			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGATTGTGGGTATGGAATGG	0.502													C	161133410	G	C	161133410	5	2	179	1	0	0	0	0	0	0	1	0	17050	1275	44	5	1137	5	USP21	1	161133410	Splice_Site	SNP	G	TCGA-CG-4466-01A-01D-1158-08	2506092	161133410	88117211	19	96326											
C1orf156	92342	broad.mit.edu	37	chr1	169762587	169762587	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctccaagttccttgaacTgctggctgcactgagtggac	12	11	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:169762587T>G	uc001ggn.2	-	2	528	c.250A>C	c.(250-252)AGT>CGT	p.S84R	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	84						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCTTGAACTGCTGGCTGCA	0.443													G	169762587	T	G	169762587	3	3	179	1	0	0	0	0	1	0	0	0	2006	1580	55	5	872	5	C1orf156	1	169762587	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	8629177	169762587	79488034	20	96327											
FMO3	2328	broad.mit.edu	37	chr1	171076927	171076927	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctttgatgctgtaatgGtttgttccggacatcatgtg	11	7	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:171076927G>C	uc001ghi.2	+	4	544	c.433G>C	c.(433-435)GTT>CTT	p.V145L	FMO3_uc001ghh.2_Missense_Mutation_p.V145L|FMO3_uc010pmb.1_Missense_Mutation_p.V125L|FMO3_uc010pmc.1_Missense_Mutation_p.V82L	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	145					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTAATGGTTTGTTCCGG	0.408													C	171076927	G	C	171076927	3	2	179	1	0	0	0	0	1	0	0	0	5956	1261	44	5	443	5	FMO3	1	171076927	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	1314340	171076927	78173694	21	96328											
GPR52	9293	broad.mit.edu	37	chr1	174418038	174418038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccctgaccgtcgctaCgccatggttttgtttaggat	10	12	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:174418038C>T	uc001gka.1	+	1	827	c.789C>T	c.(787-789)TAC>TAT	p.Y263Y	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	263	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						ACCGTCGCTACGCCATGGTTT	0.468													T	174418038	C	T	174418038	2	4	179	1	0	0	0	0	0	0	0	1	6698	547	19	1		1	GPR52	1	174418038	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	3341111	174418038	74832583	22	96329											
RASAL2	9462	broad.mit.edu	37	chr1	178269183	178269185	+	In_Frame_Del	DEL	GAG	GAG	-													tccaccaaagggcgatgcctGaggagaactgtcagtgtccc							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:178269182_178269184TGAG>T	uc001glq.3	+	2	1150_1152	c.386_388TGAG>T	c.(385-390)ctgagg>cTgg	p.R131del	RASAL2_uc009wxb.2_In_Frame_Del_p.R131del	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	0	PH.				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						GGGCGATGCCTGAGGAGAACTGT	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	178269185	GAG	-	178269183	7	5	179	1	0	1	0	1	0	0	0	0	13064	1277	45	0	397	0	RASAL2	1	178269183	In_Frame_Del	DEL	GAG	TCGA-CG-4466-01A-01D-1158-08	3851145	178269183	70981438	23	96330											
GLT25D2	23127	broad.mit.edu	37	chr1	183908121	183908121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagatgagcaagggttctGcagagaaggctttcaggtcc	15	7	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:183908121G>T	uc001gqr.2	-	12	2027	c.1655C>A	c.(1654-1656)GCA>GAA	p.A552E	GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.A160E|GLT25D2_uc001gqq.2_Missense_Mutation_p.A289E|GLT25D2_uc001gqs.2_Missense_Mutation_p.A432E	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	552					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CAAGGGTTCTGCAGAGAAGGC	0.552													T	183908121	G	T	183908121	3	4	179	1	0	0	0	0	1	0	0	0	6467	1319	46	5	229	5	GLT25D2	1	183908121	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	5638938	183908121	65342500	24	96331											
CFH	3075	broad.mit.edu	37	chr1	196642135	196642135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcctccaagaagaaAtacagaaattctgacaggtt	7	8	1	5			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:196642135A>C	uc001gtj.3	+	2	326	c.86A>C	c.(85-87)AAT>ACT	p.N29T	CFH_uc001gti.3_Missense_Mutation_p.N29T|CFH_uc009wyw.2_Missense_Mutation_p.N29T|CFH_uc009wyx.2_Missense_Mutation_p.N29T	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	29	Sushi 1.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CCAAGAAGAAATACAGAAATT	0.358													C	196642135	A	C	196642135	3	2	179	1	0	0	0	0	1	0	0	0	3283	101	4	5	92	5	CFH	1	196642135	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	12734014	196642135	52608486	25	96332											
CFHR4	10877	broad.mit.edu	37	chr1	196884189	196884189	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaagagtcgagtaccaatgCcagtcctactatgaacttca	7	11	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:196884189C>G	uc001gto.2	+	5	789	c.720C>G	c.(718-720)TGC>TGG	p.C240W	CFHR4_uc009wyy.2_Missense_Mutation_p.C486W|CFHR4_uc001gtp.2_Missense_Mutation_p.C487W	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	240	Sushi 4.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						AGTACCAATGCCAGTCCTACT	0.423													G	196884189	C	G	196884189	3	3	179	1	0	0	0	0	1	0	0	0	3287	747	26	5	738	5	CFHR4	1	196884189	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	242054	196884189	52366432	26	96333											
PTPRC	5788	broad.mit.edu	37	chr1	198678858	198678858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattaaattagaaaaccTtgaacccgaacatgagtata	6	6	0	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:198678858T>G	uc001gur.1	+	11	1250	c.1070T>G	c.(1069-1071)CTT>CGT	p.L357R	PTPRC_uc001gus.1_Missense_Mutation_p.L309R|PTPRC_uc001gut.1_Missense_Mutation_p.L196R|PTPRC_uc009wzf.1_Missense_Mutation_p.L245R|PTPRC_uc010ppg.1_Missense_Mutation_p.L293R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	357	Extracellular (Potential).				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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TTAGAAAACCTTGAACCCGAA	0.279													G	198678858	T	G	198678858	3	3	179	1	0	0	0	0	1	0	0	0	12797	1609	56	5	1119	5	PTPRC	1	198678858	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1794669	198678858	50571763	27	96334											
CENPF	1063	broad.mit.edu	37	chr1	214819369	214819369	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggagaatgattcactTaaggataaagttgagaacct	12	5	1	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:214819369T>G	uc001hkm.2	+	13	6630	c.6456T>G	c.(6454-6456)CTT>CTG	p.L2152L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2248	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGATTCACTTAAGGATAAAG	0.453													G	214819369	T	G	214819369	2	3	179	1	0	0	0	0	0	0	0	1	3231	1741	61	5		5	CENPF	1	214819369	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	16140511	214819369	34431252	28	96335											
USH2A	7399	broad.mit.edu	37	chr1	216420386	216420386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacatctaacccataaaAgttttctctgcaggtgtcac	8	10	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:216420386A>C	uc001hku.1	-	13	2737	c.2350T>G	c.(2350-2352)TTT>GTT	p.F784V	USH2A_uc001hkv.2_Missense_Mutation_p.F784V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	784	Laminin EGF-like 5.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACCCATAAAAGTTTTCTCTG	0.488										HNSCC(13;0.011)			C	216420386	A	C	216420386	3	2	179	1	0	0	0	0	1	0	0	0	17033	72	3	5	13512	5	USH2A	1	216420386	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	1601017	216420386	32830235	29	96336											
CAPN2	824	broad.mit.edu	37	chr1	223934726	223934727	+	Frame_Shift_Del	DEL	AG	AG	-													ggatgctatgaagcgctatcAgggggtgccaccactgaggg							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:223934725_223934726CAG>C	uc001hob.4	+	4	811_812	c.587_588CAG>C	c.(586-588)tcafs	p.S196fs	CAPN2_uc010puy.2_Frame_Shift_Del_p.S118fs	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	196	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GAAGCGCTATCAGGGGGTGCCA	0.53													-	223934727	AG	-	223934726	7	5	179	1	0	1	0	1	0	0	0	0	2627	175	7	0	613	0	CAPN2	1	223934726	Frame_Shift_Del	DEL	AG	TCGA-CG-4466-01A-01D-1158-08	7514340	223934726	25315895	30	96337											
ACTA1	58	broad.mit.edu	37	chr1	229567787	229567787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggcagcggaagcgctcGttgccgatggtgatgacctg	16	11	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:229567787G>A	uc001htm.2	-	5	867	c.762C>T	c.(760-762)AAC>AAT	p.N254N		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	254					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				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGAAGCGCTCGTTGCCGATGG	0.542													A	229567787	G	A	229567787	2	1	179	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229567787	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	5633061	229567787	19682834	31	96338											
TARBP1	6894	broad.mit.edu	37	chr1	234528274	234528274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttctgctgcagatAatcaattagctgaggtggtt	10	6	3	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:234528274A>G	uc001hwd.2	-	29	4585	c.4585T>C	c.(4585-4587)TAT>CAT	p.Y1529H		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1529					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	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)			TGCTGCAGATAATCAATTAGC	0.348													G	234528274	A	G	234528274	3	3	179	1	0	0	0	0	1	0	0	0	15552	362	13	3	288	3	TARBP1	1	234528274	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	4960487	234528274	14722347	32	96339											
GREM2	64388	broad.mit.edu	37	chr1	240656630	240656630	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaggccagcacctccttgAtctggtgctgccatctctcc	10	15	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr1:240656630A>T	uc001hys.2	-	2	426	c.146T>A	c.(145-147)ATC>AAC	p.I49N		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	49					BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CACCTCCTTGATCTGGTGCTG	0.657													T	240656630	A	T	240656630	3	4	179	1	0	0	0	0	1	0	0	0	6762	333	12	5	364	5	GREM2	1	240656630	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	6128356	240656630	8593991	33	96340											
TPO	7173	broad.mit.edu	37	chr2	1499798	1499798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtcttcacggatgcaCagaggcgtgagctggagaag	15	10	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:1499798C>T	uc002qww.2	+	12	2135	c.2044C>T	c.(2044-2046)CAG>TAG	p.Q682*	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Nonsense_Mutation_p.Q625*|TPO_uc002qwr.2_Nonsense_Mutation_p.Q682*|TPO_uc002qwx.2_Nonsense_Mutation_p.Q625*|TPO_uc010yio.1_Nonsense_Mutation_p.Q509*|TPO_uc010yip.1_Nonsense_Mutation_p.Q682*|TPO_uc002qwy.1_Nonsense_Mutation_p.Q22*|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	682	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	CACGGATGCACAGAGGCGTGA	0.577													T	1499798	C	T	1499798	4	4	179	1	0	0	0	0	0	1	0	0	16407	479	17	4	2086	4	TPO	2	1499798	Nonsense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08		1499798	241699575	34	96341											
KCNS3	3790	broad.mit.edu	37	chr2	18112836	18112836	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctgtccgctaagcttatCgctatctcctccttgagcgt	8	14	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:18112836C>T	uc002rcv.2	+	3	1012	c.561C>T	c.(559-561)ATC>ATT	p.I187I	KCNS3_uc002rcw.2_Silent_p.I187I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	187	Helical; Name=Segment S1; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTAAGCTTATCGCTATCTCCT	0.522													T	18112836	C	T	18112836	2	4	179	1	0	0	0	0	0	0	0	1	8090	874	31	1		1	KCNS3	2	18112836	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	16613038	18112836	225086537	35	96342											
LTBP1	4052	broad.mit.edu	37	chr2	33585711	33585711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaaaagaaagaatgcTactataatctcaatgacgcc	7	7	1	5			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:33585711T>C	uc002ros.2	+	27	4051	c.4051T>C	c.(4051-4053)TAC>CAC	p.Y1351H	LTBP1_uc002rot.2_Missense_Mutation_p.Y1025H|LTBP1_uc002rou.2_Missense_Mutation_p.Y1024H|LTBP1_uc002rov.2_Missense_Mutation_p.Y971H|LTBP1_uc010ymz.1_Missense_Mutation_p.Y982H|LTBP1_uc010yna.1_Missense_Mutation_p.Y929H|LTBP1_uc010ynb.1_Missense_Mutation_p.Y248H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1350	TB 3.				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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAAGAATGCTACTATAATCT	0.408													C	33585711	T	C	33585711	3	2	179	1	0	0	0	0	1	0	0	0	9073	1522	53	3	4209	3	LTBP1	2	33585711	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	15472875	33585711	209613662	36	96343											
HK2	3099	broad.mit.edu	37	chr2	75061723	75061723	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaggatgattgcctcgcatCtgcttgcctacttcttcacg	9	13	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:75061723C>T	uc002snd.2	+	1	1942	c.16C>T	c.(16-18)CTG>TTG	p.L6L		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	6	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						TGCCTCGCATCTGCTTGCCTA	0.662													T	75061723	C	T	75061723	2	4	179	1	0	0	0	0	0	0	0	1	7191	912	32	4		4	HK2	2	75061723	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	41476012	75061723	168137650	37	96344											
RNF103	7844	broad.mit.edu	37	chr2	86839315	86839315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagttaaatgtgcctgtaCgtattccaaatcttgacacc	6	10	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:86839315C>A	uc002srn.2	-	3	1418	c.449G>T	c.(448-450)CGT>CTT	p.R150L	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.R11L|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	150					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(1)	1						TGTGCCTGTACGTATTCCAAA	0.388													A	86839315	C	A	86839315	3	1	179	1	0	0	0	0	1	0	0	0	13423	536	19	5	1616	5	RNF103	2	86839315	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	11777592	86839315	156360058	38	96345											
GYPC	2995	broad.mit.edu	37	chr2	127453545	127453545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgctgctgtggccatcGtcctagtctccctcctcttc	8	15	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:127453545G>A	uc002tnq.2	+	4	370	c.214G>A	c.(214-216)GTC>ATC	p.V72I	GYPC_uc002tnr.2_Missense_Mutation_p.V53I|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	72	Helical; Signal-anchor for type III membrane protein.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TGTGGCCATCGTCCTAGTCTC	0.607													A	127453545	G	A	127453545	3	1	179	1	0	0	0	0	1	0	0	0	6910	1145	40	1	228	1	GYPC	2	127453545	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	40614230	127453545	115745828	39	96346											
MGAT5	4249	broad.mit.edu	37	chr2	135199405	135199405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagcccgggcagtcctGcaagcaggtgtgccaggaga	16	11	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:135199405G>T	uc002ttv.1	+	15	2091	c.1946G>T	c.(1945-1947)TGC>TTC	p.C649F		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	649	Lumenal (Potential).				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			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GGGCAGTCCTGCAAGCAGGTG	0.582													T	135199405	G	T	135199405	3	4	179	1	0	0	0	0	1	0	0	0	9548	1319	46	5	2004	5	MGAT5	2	135199405	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	7745860	135199405	107999968	40	96347											
YSK4	80122	broad.mit.edu	37	chr2	135745059	135745059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttatgtttgtctccatGctgctacaaccttctgggag	8	9	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:135745059G>A	uc002tue.1	-	7	1414	c.1383C>T	c.(1381-1383)AGC>AGT	p.S461S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S348S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.S189S|YSK4_uc002tui.3_Silent_p.S478S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	461							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGTCTCCATGCTGCTACAAC	0.408													A	135745059	G	A	135745059	2	1	179	1	0	0	0	0	0	0	0	1	17492	1310	46	2		2	YSK4	2	135745059	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	545654	135745059	107454314	41	96348											
LRP1B	53353	broad.mit.edu	37	chr2	141122309	141122309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatgtagtttgcagagAgaattattgcaaaggaactc	10	5	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:141122309A>G	uc002tvj.1	-	72	12024	c.11052T>C	c.(11050-11052)TCT>TCC	p.S3684S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3684	Extracellular (Potential).|LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GTTTGCAGAGAGAATTATTGC	0.413										TSP Lung(27;0.18)			G	141122309	A	G	141122309	2	3	179	1	0	0	0	0	0	0	0	1	8955	291	11	3		3	LRP1B	2	141122309	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	5377250	141122309	102077064	42	96349											
NEB	4703	broad.mit.edu	37	chr2	152499752	152499752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaattgatctgggtgctgaCggtaaacatggtcactcaaa	10	7	3	2	rs35555631	by1000genomes	TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:152499752C>T	uc010fnx.2	-	58	8263	c.8072G>A	c.(8071-8073)CGT>CAT	p.R2691H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2691	Nebulin 72.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGTGCTGACGGTAAACATG	0.418													T	152499752	C	T	152499752	3	4	179	1	0	0	0	0	1	0	0	0	10302	536	19	1	18114	1	NEB	2	152499752	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	11377443	152499752	90699621	43	96350											
PLA2R1	22925	broad.mit.edu	37	chr2	160901447	160901447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgccaccgtaaggaaaCgagggtggagtcacattcat	12	10	2	0	rs139879340		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:160901447C>T	uc002ube.1	-	2	538	c.331G>A	c.(331-333)GTT>ATT	p.V111I	PLA2R1_uc010zcp.1_Missense_Mutation_p.V111I|PLA2R1_uc002ubf.2_Missense_Mutation_p.V111I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	111	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						CGTAAGGAAACGAGGGTGGAG	0.537													T	160901447	C	T	160901447	3	4	179	1	0	0	0	0	1	0	0	0	12010	536	19	1	4184	1	PLA2R1	2	160901447	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	8401695	160901447	82297926	44	96351											
KCNH7	90134	broad.mit.edu	37	chr2	163253359	163253359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagtcttctcgctgaatcTtatgcaagtcacagtatgtg	8	9	4	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:163253359T>G	uc002uch.1	-	11	2716	c.2504A>C	c.(2503-2505)AAG>ACG	p.K835T		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	835	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TCGCTGAATCTTATGCAAGTC	0.373													G	163253359	T	G	163253359	3	3	179	1	0	0	0	0	1	0	0	0	8037	1609	56	5	1110	5	KCNH7	2	163253359	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	2351912	163253359	79946014	45	96352											
XIRP2	129446	broad.mit.edu	37	chr2	167992437	167992437	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtggaaattgagcgaAgtttgtgctcgccagctttt	13	6	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:167992437A>C	uc002udx.2	+	2	445	c.427A>C	c.(427-429)AGT>CGT	p.S143R	XIRP2_uc010fpn.2_Missense_Mutation_p.S143R|XIRP2_uc010fpo.2_Missense_Mutation_p.S143R|XIRP2_uc010fpp.2_Missense_Mutation_p.S143R|XIRP2_uc002udy.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATTGAGCGAAGTTTGTGCTC	0.423													C	167992437	A	C	167992437	3	2	179	1	0	0	0	0	1	0	0	0	17427	72	3	5	433	5	XIRP2	2	167992437	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	4739078	167992437	75206936	46	96353											
B3GALT1	8708	broad.mit.edu	37	chr2	168726351	168726351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccttgaagacgtatatGtgggactgtgtcttcgaaag	11	7	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:168726351G>T	uc002udz.1	+	2	1153	c.802G>T	c.(802-804)GTG>TTG	p.V268L		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	268	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						AGACGTATATGTGGGACTGTG	0.468													T	168726351	G	T	168726351	3	4	179	1	0	0	0	0	1	0	0	0	1247	1377	48	5	804	5	B3GALT1	2	168726351	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	733914	168726351	74473022	47	96354											
CHN1	1123	broad.mit.edu	37	chr2	175779816	175779816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtaggtccctggctgcCgctggctctcccggatgagg	15	12	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:175779816C>T	uc002uji.2	-	5	760	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	CHN1_uc010zeq.1_Missense_Mutation_p.R77Q|CHN1_uc002ujj.2_5'UTR	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	77	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCCTGGCTGCCGCTGGCTCTC	0.463			T	TAF15	extraskeletal myxoid chondrosarcoma								T	175779816	C	T	175779816	3	4	179	1	0	0	0	0	1	0	0	0	3362	652	23	1	1185	1	CHN1	2	175779816	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	7053465	175779816	67419557	48	96355											
TTN	7273	broad.mit.edu	37	chr2	179478896	179478896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaatttggtggccttgaAgtttgtatccttgacggtgg	13	5	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:179478896A>G	uc010zfg.1	-	211	41748	c.41524T>C	c.(41524-41526)TTC>CTC	p.F13842L	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.F7537L|TTN_uc010zfi.1_Missense_Mutation_p.F7470L|TTN_uc010zfj.1_Missense_Mutation_p.F7345L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14769							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGCCTTGAAGTTTGTATCC	0.443													G	179478896	A	G	179478896	3	3	179	1	0	0	0	0	1	0	0	0	16732	72	3	3	58869	3	TTN	2	179478896	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	3699080	179478896	63720477	49	96356											
ERBB4	2066	broad.mit.edu	37	chr2	212251753	212251753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattacagcaggagtcatcAaaaatctcagcagtagcacc	7	12	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:212251753A>G	uc002veg.1	-	27	3404	c.3306T>C	c.(3304-3306)TTT>TTC	p.F1102F	ERBB4_uc002veh.1_Silent_p.F1086F|ERBB4_uc010zji.1_Silent_p.F1092F|ERBB4_uc010zjj.1_Silent_p.F1076F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1102	Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		AGGAGTCATCAAAAATCTCAG	0.547										TSP Lung(8;0.080)			G	212251753	A	G	212251753	2	3	179	1	0	0	0	0	0	0	0	1	5209	127	5	3		3	ERBB4	2	212251753	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	32772857	212251753	30947620	50	96357											
VWC2L	402117	broad.mit.edu	37	chr2	215301358	215301358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatttgttcctagccctcTccatgtgaatggtgtcgctg	10	10	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:215301358T>C	uc002vet.2	+	3	526	c.396T>C	c.(394-396)TCT>TCC	p.S132S	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	132	VWFC 2.					extracellular region					0						CCTAGCCCTCTCCATGTGAAT	0.433													C	215301358	T	C	215301358	2	2	179	1	0	0	0	0	0	0	0	1	17241	1538	54	3		3	VWC2L	2	215301358	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	3049605	215301358	27898015	51	96358											
SP100	6672	broad.mit.edu	37	chr2	231313845	231313845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcctgacttggccaccttCgggttccccatctcatgctg	9	15	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr2:231313845C>T	uc002vqt.2	+	6	707	c.566C>T	c.(565-567)TCG>TTG	p.S189L	SP100_uc002vqs.2_Missense_Mutation_p.S189L|SP100_uc002vqu.1_Missense_Mutation_p.S189L|SP100_uc010zmb.1_Missense_Mutation_p.S189L|SP100_uc002vqq.1_Missense_Mutation_p.S189L|SP100_uc002vqr.1_Missense_Mutation_p.S164L|SP100_uc010zmc.1_Missense_Mutation_p.S164L|SP100_uc002vqv.1_Missense_Mutation_p.S153L	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	189					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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		TGGCCACCTTCGGGTTCCCCA	0.458													T	231313845	C	T	231313845	3	4	179	1	0	0	0	0	1	0	0	0	14960	893	31	1	588	1	SP100	2	231313845	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	16012487	231313845	11885528	52	96359											
NR1D2	9975	broad.mit.edu	37	chr3	23996233	23996233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgatcgaatagattgTtctatgaaaacaagcaaatc	7	5	1	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:23996233T>C	uc003ccs.2	+	2	541	c.222T>C	c.(220-222)TGT>TGC	p.C74C	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	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			urinary_tract(1)|kidney(1)|skin(1)	3						GAATAGATTGTTCTATGAAAA	0.373													C	23996233	T	C	23996233	2	2	179	1	0	0	0	0	0	0	0	1	10616	1731	60	3		3	NR1D2	3	23996233	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08		23996233	174026197	53	96360											
SLC25A38	54977	broad.mit.edu	37	chr3	39433036	39433036	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaaccgccctggagtcagtCatgctgggggtgggctctcg	15	13	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:39433036C>T	uc003cjo.2	+	4	782	c.381C>T	c.(379-381)GTC>GTT	p.V127V		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	127	Solcar 2.|Helical; Name=3; (Potential).				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGTCAGTCATGCTGGGGG	0.532													T	39433036	C	T	39433036	2	4	179	1	0	0	0	0	0	0	0	1	14502	813	29	4		4	SLC25A38	3	39433036	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	15436803	39433036	158589394	54	96361											
IP6K1	9807	broad.mit.edu	37	chr3	49764884	49764884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagatgacaagcagggaacTggagtagaagcggtaagagg	16	4	0	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:49764884T>C	uc003cxm.1	-	6	1312	c.997A>G	c.(997-999)AGT>GGT	p.S333G	IP6K1_uc003cxn.1_Missense_Mutation_p.S168G|IP6K1_uc011bcv.1_Missense_Mutation_p.S168G|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	333					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						AGCAGGGAACTGGAGTAGAAG	0.607													C	49764884	T	C	49764884	3	2	179	1	0	0	0	0	1	0	0	0	7788	1580	55	3	332	3	IP6K1	3	49764884	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	10331848	49764884	148257546	55	96362											
GNAT1	2779	broad.mit.edu	37	chr3	50231619	50231619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcgcggcgctgagcGcctacgacatggtgctagtg	13	12	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:50231619G>A	uc003cym.2	+	6	789	c.673G>A	c.(673-675)GCC>ACC	p.A225T	GNAT1_uc003cyl.2_Missense_Mutation_p.A225T	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	225					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGCGCTGAGCGCCTACGACAT	0.657													A	50231619	G	A	50231619	3	1	179	1	0	0	0	0	1	0	0	0	6511	1087	38	1	695	1	GNAT1	3	50231619	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	466735	50231619	147790811	56	96363											
PARP3	10039	broad.mit.edu	37	chr3	51980232	51980232	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaatcggaagctgctgtgGcatggcaccaacatggccgt	14	10	0	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:51980232G>A	uc003dby.2	+	9	1520	c.1149G>A	c.(1147-1149)TGG>TGA	p.W383*	PARP3_uc003dbz.2_Nonsense_Mutation_p.W390*	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	383	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTGCTGTGGCATGGCACCA	0.577													A	51980232	G	A	51980232	4	1	179	1	0	0	0	0	0	1	0	0	11462	1212	42	2	1204	2	PARP3	3	51980232	Nonsense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	1748613	51980232	146042198	57	96364											
CACNA1D	776	broad.mit.edu	37	chr3	53777132	53777132	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttggggtgtctctggtgtCatttgggattcagtaagtat	15	4	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:53777132C>T	uc003dgv.3	+	22	3069	c.2906C>T	c.(2905-2907)TCA>TTA	p.S969L	CACNA1D_uc003dgu.3_Missense_Mutation_p.S989L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S969L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S636L|CACNA1D_uc003dgx.1_Missense_Mutation_p.S117L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	969	Helical; Name=S3 of repeat III; (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	TCTCTGGTGTCATTTGGGATT	0.443													T	53777132	C	T	53777132	3	4	179	1	0	0	0	0	1	0	0	0	2541	838	29	4	3164	4	CACNA1D	3	53777132	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	1796900	53777132	144245298	58	96365											
ROBO2	6092	broad.mit.edu	37	chr3	77600056	77600056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaatcaccaacattcaaCgttccgacgcgggttactac	6	14	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:77600056C>T	uc003dpy.3	+	8	1790	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	ROBO2_uc003dpz.2_Missense_Mutation_p.R387C|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R387C	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	383	Ig-like C2-type 4.|Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		CAACATTCAACGTTCCGACGC	0.483													T	77600056	C	T	77600056	3	4	179	1	0	0	0	0	1	0	0	0	13514	536	19	1	1179	1	ROBO2	3	77600056	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	23822924	77600056	120422374	59	96366											
GBE1	2632	broad.mit.edu	37	chr3	81640313	81640313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatcacctgagaaaccttGaccttagaaaaagaaaatca	6	8	2	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:81640313G>A	uc003dqg.2	-	10	1394	c.1111C>T	c.(1111-1113)CAA>TAA	p.Q371*	GBE1_uc011bgm.1_Nonsense_Mutation_p.Q330*	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	371					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAGAAACCTTGACCTTAGAAA	0.343									Glycogen_Storage_Disease_type_IV				A	81640313	G	A	81640313	4	1	179	1	0	0	0	0	0	1	0	0	6270	1299	45	4	1029	4	GBE1	3	81640313	Nonsense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	4040257	81640313	116382117	60	96367											
STXBP5L	9515	broad.mit.edu	37	chr3	121126281	121126281	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggagatcatcagtatacaAtaatctgctcagaaaaacaa	6	7	4	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr3:121126281A>C	uc003eec.3	+	24	2991	c.2851A>C	c.(2851-2853)ATA>CTA	p.I951L	STXBP5L_uc011bji.1_Missense_Mutation_p.I927L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	951	WD 12.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TCAGTATACAATAATCTGCTC	0.373													C	121126281	A	C	121126281	3	2	179	1	0	0	0	0	1	0	0	0	15356	101	4	5	2941	5	STXBP5L	3	121126281	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	39485968	121126281	76896149	61	96368											
EVC2	132884	broad.mit.edu	37	chr4	5699368	5699368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggccaaatcatacaggGcaagtcctaaaaaattcaag	8	8	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:5699368G>A	uc003gij.2	-	2	289	c.235C>T	c.(235-237)CCC>TCC	p.P79S	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	79						integral to membrane				large_intestine(3)|ovary(2)	5						ATCATACAGGGCAAGTCCTAA	0.378													A	5699368	G	A	5699368	3	1	179	1	0	0	0	0	1	0	0	0	5286	1203	42	2	3775	2	EVC2	4	5699368	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08		5699368	185454908	62	96369											
UNC5C	8633	broad.mit.edu	37	chr4	96123915	96123915	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggtgtcatccagacagtaGactcggatgctgtactccag	12	10	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:96123915G>T	uc003htp.1	-	12	2257	c.2103C>A	c.(2101-2103)GTC>GTA	p.V701V	UNC5C_uc010ilc.1_Silent_p.V720V	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	701	Cytoplasmic (Potential).|Interaction with DCC (By similarity).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCAGACAGTAGACTCGGATGC	0.602													T	96123915	G	T	96123915	2	4	179	1	0	0	0	0	0	0	0	1	16990	929	33	5		5	UNC5C	4	96123915	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	90424547	96123915	95030361	63	96370											
AGXT2L1	64850	broad.mit.edu	37	chr4	109674150	109674150	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctatattttcctctgtaAgtatctggagttggtgcctg	9	8	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:109674150A>C	uc003hzc.2	-	6	700	c.519T>G	c.(517-519)ACT>ACG	p.T173T	AGXT2L1_uc010imc.2_Silent_p.T167T|AGXT2L1_uc011cfm.1_Silent_p.T133T|AGXT2L1_uc011cfn.1_Silent_p.T100T|AGXT2L1_uc011cfo.1_Silent_p.T115T	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	173					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TTCCTCTGTAAGTATCTGGAG	0.393													C	109674150	A	C	109674150	2	2	179	1	0	0	0	0	0	0	0	1	406	59	3	5		5	AGXT2L1	4	109674150	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	13550235	109674150	81480126	64	96371											
FGF2	2247	broad.mit.edu	37	chr4	123813510	123813510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccaaaacaggacctgggCagaaagctatactttttctt	8	9	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:123813510C>A	uc003iev.1	+	3	894	c.826C>A	c.(826-828)CAG>AAG	p.Q276K		NM_002006	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2	276	Heparin-binding (By similarity).				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			ovary(1)|lung(1)|central_nervous_system(1)	3					Pentosan Polysulfate(DB00686)	AGGACCTGGGCAGAAAGCTAT	0.368													A	123813510	C	A	123813510	3	1	179	1	0	0	0	0	1	0	0	0	5848	711	25	5	836	5	FGF2	4	123813510	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	14139360	123813510	67340766	65	96372											
FAT4	79633	broad.mit.edu	37	chr4	126370110	126370110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccagagacggtggtttcCctcctttctcctcttacgag	10	13	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:126370110C>T	uc003ifj.3	+	9	7939	c.7939C>T	c.(7939-7941)CCT>TCT	p.P2647S	FAT4_uc011cgp.1_Missense_Mutation_p.P945S|FAT4_uc003ifi.1_Missense_Mutation_p.P125S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2647	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						cggtggtttccctcctttctC	0.144													T	126370110	C	T	126370110	3	4	179	1	0	0	0	0	1	0	0	0	5692	623	22	4	7973	4	FAT4	4	126370110	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	2556600	126370110	64784166	66	96373											
PCDH10	57575	broad.mit.edu	37	chr4	134072011	134072011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacggccctactcaccatccGagtgctggactccaatgaca	8	16	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:134072011G>A	uc003iha.2	+	1	1542	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R239Q	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCACCATCCGAGTGCTGGAC	0.463													A	134072011	G	A	134072011	3	1	179	1	0	0	0	0	1	0	0	0	11507	1058	37	1	718	1	PCDH10	4	134072011	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	7701901	134072011	57082265	67	96374											
RNF175	285533	broad.mit.edu	37	chr4	154644505	154644505	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaattggagatacttacttGaaaaacagattgaatccaca	6	6	0	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:154644505G>T	uc003int.2	-	5	880	c.507C>A	c.(505-507)TTC>TTA	p.F169L	RNF175_uc003inu.1_Missense_Mutation_p.F41L	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	169	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ATACTTACTTGAAAAACAGAT	0.388													T	154644505	G	T	154644505	3	4	179	1	0	0	0	0	1	0	0	0	13463	1281	45	5	499	5	RNF175	4	154644505	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	20572494	154644505	36509771	68	96375											
SFRP2	6423	broad.mit.edu	37	chr4	154702901	154702901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatctccttcacttttattTtcagtgctatgagggagggc	9	8	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:154702901T>G	uc003inv.1	-	3	831	c.590A>C	c.(589-591)AAA>ACA	p.K197T		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	197	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				CACTTTTATTTTCAGTGCTAT	0.463													G	154702901	T	G	154702901	3	3	179	1	0	0	0	0	1	0	0	0	14162	1841	64	5	301	5	SFRP2	4	154702901	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	58396	154702901	36451375	69	96376											
GUCY1A3	2982	broad.mit.edu	37	chr4	156651353	156651353	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagatggcaatgccaaTtttttaggcaaagcatcagg	12	6	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr4:156651353T>G	uc003iov.2	+	11	2579	c.2043T>G	c.(2041-2043)AAT>AAG	p.N681K	GUCY1A3_uc003iow.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N680K|GUCY1A3_uc003iox.2_Missense_Mutation_p.N681K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N681K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	681				GNANFLGKASGID -> ASQFFRQSIRNRLATYIPIYKSLG FDSLKMCRASESTLGIVDG (in Ref. 1; CAA47145).	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(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCAATGCCAATTTTTTAGGCA	0.398													G	156651353	T	G	156651353	3	3	179	1	0	0	0	0	1	0	0	0	6894	1490	52	5	2092	5	GUCY1A3	4	156651353	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1948452	156651353	34502923	70	96377											
FASTKD3	79072	broad.mit.edu	37	chr5	7866882	7866882	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtggaaaataattgaaatGagtgaatagcacgttttcca	11	4	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:7866882G>T	uc003jeb.2	-	2	1452	c.1315C>A	c.(1315-1317)CAT>AAT	p.H439N	FASTKD3_uc011cmp.1_Missense_Mutation_p.H141N|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	439					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TAATTGAAATGAGTGAATAGC	0.358													T	7866882	G	T	7866882	3	4	179	1	0	0	0	0	1	0	0	0	5687	1290	45	5	697	5	FASTKD3	5	7866882	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08		7866882	173048378	71	96378											
SEMA5A	9037	broad.mit.edu	37	chr5	9066715	9066715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtccagggcgtggtcTtcttcagctcaggacacggg	16	10	4	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:9066715T>G	uc003jek.2	-	17	2829	c.2117A>C	c.(2116-2118)AAG>ACG	p.K706T		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	706	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GGGCGTGGTCTTCTTCAGCTC	0.552													G	9066715	T	G	9066715	3	3	179	1	0	0	0	0	1	0	0	0	14037	1609	56	5	1135	5	SEMA5A	5	9066715	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1199833	9066715	171848545	72	96379											
CTNND2	1501	broad.mit.edu	37	chr5	11364954	11364954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggactgcagggcccgcaacTctgggcccaggtgcccatgc	15	15	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:11364954T>C	uc003jfa.1	-	8	1371	c.1226A>G	c.(1225-1227)GAG>GGG	p.E409G	CTNND2_uc010itt.2_Missense_Mutation_p.E318G|CTNND2_uc011cmy.1_Missense_Mutation_p.E72G|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	409	ARM 1.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GGCCCGCAACTCTGGGCCCAG	0.567													C	11364954	T	C	11364954	3	2	179	1	0	0	0	0	1	0	0	0	4020	1551	54	3	2511	3	CTNND2	5	11364954	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	2298239	11364954	169550306	73	96380											
MYO10	4651	broad.mit.edu	37	chr5	16676142	16676142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggagctctggacttacagTtgagatttatgtccccatac	10	9	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:16676142T>C	uc003jft.3	-	34	5132	c.4664A>G	c.(4663-4665)AAC>AGC	p.N1555S	MYO10_uc011cnb.1_Missense_Mutation_p.N184S|MYO10_uc011cnc.1_Missense_Mutation_p.N434S|MYO10_uc011cnd.1_Missense_Mutation_p.N912S|MYO10_uc011cne.1_Missense_Mutation_p.N912S|MYO10_uc010itx.2_Missense_Mutation_p.N1177S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1555	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GGACTTACAGTTGAGATTTAT	0.498													C	16676142	T	C	16676142	3	2	179	1	0	0	0	0	1	0	0	0	10062	1725	60	3	1544	3	MYO10	5	16676142	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	5311188	16676142	164239118	74	96381											
CDH18	1016	broad.mit.edu	37	chr5	19747287	19747287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgataaatatagtcccagcaCcctctccagtaaggatgtac	7	11	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:19747287C>T	uc003jgc.2	-	3	664	c.287G>A	c.(286-288)GGT>GAT	p.G96D	CDH18_uc003jgd.2_Missense_Mutation_p.G96D|CDH18_uc011cnm.1_Missense_Mutation_p.G96D	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	96	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTCCCAGCACCCTCTCCAGT	0.408													T	19747287	C	T	19747287	3	4	179	1	0	0	0	0	1	0	0	0	3103	507	18	4	2125	4	CDH18	5	19747287	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	3071145	19747287	161167973	75	96382											
CDH12	1010	broad.mit.edu	37	chr5	21783540	21783540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaattcattagtggcgatGgttccttcatttccatctat	7	8	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:21783540G>A	uc010iuc.2	-	8	1778	c.1320C>T	c.(1318-1320)ACC>ACT	p.T440T	CDH12_uc011cno.1_Silent_p.T400T|CDH12_uc003jgk.2_Silent_p.T440T	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	440	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TAGTGGCGATGGTTCCTTCAT	0.378										HNSCC(59;0.17)			A	21783540	G	A	21783540	2	1	179	1	0	0	0	0	0	0	0	1	3098	1335	47	4		4	CDH12	5	21783540	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	2036253	21783540	159131720	76	96383											
RXFP3	51289	broad.mit.edu	37	chr5	33937978	33937978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgagcgtgtgcctagCgcactccaacagctgcctca	10	16	1	1	rs143656786		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:33937978C>T	uc003jic.1	+	1	1490	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	378	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GTGTGCCTAGCGCACTCCAAC	0.617													T	33937978	C	T	33937978	3	4	179	1	0	0	0	0	1	0	0	0	13761	768	27	1	1135	1	RXFP3	5	33937978	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	12154438	33937978	146977282	77	96384											
NUP155	9631	broad.mit.edu	37	chr5	37364386	37364386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcaggtgggagaggaacTcttcggatggaactgatctc	14	7	3	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:37364386T>C	uc003jku.1	-	2	376	c.258A>G	c.(256-258)AGA>AGG	p.R86R	NUP155_uc003jkt.1_Silent_p.R27R|NUP155_uc010iuz.1_Silent_p.R86R	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	86					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			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGAGGAACTCTTCGGATGG	0.383													C	37364386	T	C	37364386	2	2	179	1	0	0	0	0	0	0	0	1	10756	1548	54	3		3	NUP155	5	37364386	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	3426408	37364386	143550874	78	96385											
HEATR7B2	133558	broad.mit.edu	37	chr5	41061700	41061700	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggccaaaggggcccacTtctccattatataccagaac	9	12	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:41061700T>G	uc003jmj.3	-	6	1077	c.587A>C	c.(586-588)AAG>ACG	p.K196T		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	196							binding			ovary(6)|central_nervous_system(2)	8						AGGGGCCCACTTCTCCATTAT	0.488													G	41061700	T	G	41061700	3	3	179	1	0	0	0	0	1	0	0	0	7035	1609	56	5	4318	5	HEATR7B2	5	41061700	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	3697314	41061700	139853560	79	96386											
OXCT1	5019	broad.mit.edu	37	chr5	41803250	41803250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgctggccaggagagggattCctatgcccaaattagctgga	13	9	0	1	rs121909301		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:41803250C>G	uc003jmn.2	-	10	1302	c.971G>C	c.(970-972)GGA>GCA	p.G324A		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	324			G -> E (in SCOTD).		cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	GAGAGGGATTCCTATGCCCAA	0.353													G	41803250	C	G	41803250	3	3	179	1	0	0	0	0	1	0	0	0	11329	855	30	5	623	5	OXCT1	5	41803250	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	741550	41803250	139112010	80	96387											
MCTP1	79772	broad.mit.edu	37	chr5	94248669	94248669	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtctgataggcgtaaacTttgggtctgaaacttttggc	12	6	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:94248669T>G	uc003kkx.2	-	9	1363	c.1363A>C	c.(1363-1365)AGT>CGT	p.S455R	MCTP1_uc003kkv.2_Missense_Mutation_p.S234R|MCTP1_uc003kkw.2_Missense_Mutation_p.S188R|MCTP1_uc003kkz.2_Missense_Mutation_p.S116R|MCTP1_uc003kku.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	455					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		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)		AGGCGTAAACTTTGGGTCTGA	0.403													G	94248669	T	G	94248669	3	3	179	1	0	0	0	0	1	0	0	0	9400	1609	56	5	1696	5	MCTP1	5	94248669	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	52445419	94248669	86666591	81	96388											
PPIP5K2	23262	broad.mit.edu	37	chr5	102465386	102465386	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccatgcagatgaagaCgatgaggaggaagatgattc	12	7	0	6			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:102465386C>G	uc003kod.3	+	2	612	c.93C>G	c.(91-93)GAC>GAG	p.D31E	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.D31E|PPIP5K2_uc010jbo.1_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	31					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			ovary(1)|skin(1)	2						CAGATGAAGACGATGAGGAGG	0.368													G	102465386	C	G	102465386	3	3	179	1	0	0	0	0	1	0	0	0	12333	535	19	5	95	5	PPIP5K2	5	102465386	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	8216717	102465386	78449874	82	96389											
GRXCR2	643226	broad.mit.edu	37	chr5	145246082	145246082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgtataccggttttgGggtaatgtgctttctgcctc	11	9	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr5:145246082G>A	uc003lns.1	-	2	546	c.546C>T	c.(544-546)CCC>CCT	p.P182P		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	182											0						ACCGGTTTTGGGGTAATGTGC	0.527													A	145246082	G	A	145246082	2	1	179	1	0	0	0	0	0	0	0	1	6813	1219	43	4		4	GRXCR2	5	145246082	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	42780696	145246082	35669178	83	96390											
DSP	1832	broad.mit.edu	37	chr6	7585299	7585299	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatatccagcgtcaggaatTtaaccataaggagcagctct	8	11	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:7585299T>G	uc003mxp.1	+	24	8083	c.7804T>G	c.(7804-7806)TTA>GTA	p.L2602V	DSP_uc003mxq.1_Missense_Mutation_p.L2003V	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2602	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTCAGGAATTTAACCATAAG	0.468													G	7585299	T	G	7585299	3	3	179	1	0	0	0	0	1	0	0	0	4781	1838	64	5	7898	5	DSP	6	7585299	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08		7585299	163529768	84	96391											
C6orf114	85411	broad.mit.edu	37	chr6	13470336	13470336	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgaattcgtttgaaaaAccgataaatactgcagttgg	9	5	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:13470336A>C	uc003nav.2	-	2	700	c.177T>G	c.(175-177)GGT>GGG	p.G59G	GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.2_RNA	NM_033069	NP_149060			hypothetical protein LOC85411												0	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147)			CGTTTGAAAAACCGATAAATA	0.343													C	13470336	A	C	13470336	2	2	179	1	0	0	0	0	0	0	0	1	2321	30	2	5		5	C6orf114	6	13470336	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	5885037	13470336	157644731	85	96392											
RBM24	221662	broad.mit.edu	37	chr6	17292294	17292294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagcagctgctgccGctgcagcatttggccagtac	12	15	0	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:17292294G>A	uc003nbz.3	+	4	659	c.655G>A	c.(655-657)GCT>ACT	p.A219T	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A161T|RBM24_uc003nca.2_Missense_Mutation_p.A174T|RBM24_uc011diy.1_Silent_p.P132P|RBM24_uc011diz.1_Silent_p.P117P	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	219	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			agctgctgccgctgcagcATT	0.433													A	17292294	G	A	17292294	3	1	179	1	0	0	0	0	1	0	0	0	13124	1087	38	1	702	1	RBM24	6	17292294	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	3821958	17292294	153822773	86	96393											
HCRTR2	3062	broad.mit.edu	37	chr6	55039587	55039587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcatcgtgttcgtcgtgGctctcattgggaacgtcctg	11	11	2	0	rs75924257		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:55039587G>A	uc003pcl.2	+	1	517	c.202G>A	c.(202-204)GCT>ACT	p.A68T	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzu.1_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	68	Helical; Name=1; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCGTCGTGGCTCTCATTGG	0.602													A	55039587	G	A	55039587	3	1	179	1	0	0	0	0	1	0	0	0	7002	1203	42	2	204	2	HCRTR2	6	55039587	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	37747293	55039587	116075480	87	96394											
PRDM13	59336	broad.mit.edu	37	chr6	100062499	100062499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctgctcgccaaagcggGcgacggcccgggtgccgagc	17	14	1	0	rs113976133		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:100062499G>A	uc003pqg.1	+	4	2249	c.1988G>A	c.(1987-1989)GGC>GAC	p.G663D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GCCAAAGCGGGCGACGGCCCG	0.677													A	100062499	G	A	100062499	3	1	179	1	0	0	0	0	1	0	0	0	12454	1203	42	2	2002	2	PRDM13	6	100062499	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	45022912	100062499	71052568	88	96395											
RFPL4B	442247	broad.mit.edu	37	chr6	112671628	112671628	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggtttcttctctttggagCttttgtgtccattcttctgt	8	8	4	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:112671628C>G	uc003pvx.1	+	3	1030	c.718C>G	c.(718-720)CTT>GTT	p.L240V		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	240	B30.2/SPRY.						zinc ion binding				0		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)		CTCTTTGGAGCTTTTGTGTCC	0.438													G	112671628	C	G	112671628	3	3	179	1	0	0	0	0	1	0	0	0	13256	797	28	5	720	5	RFPL4B	6	112671628	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	12609129	112671628	58443439	89	96396											
NUP43	348995	broad.mit.edu	37	chr6	150048162	150048162	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatcggttccacaaacaagAcaaggacctaaaacatccaa	6	12	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:150048162A>T	uc003qmz.2	-	8	1143	c.1086T>A	c.(1084-1086)TGT>TGA	p.C362*	NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Nonsense_Mutation_p.C266*	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	362					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			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CACAAACAAGACAAGGACCTA	0.388													T	150048162	A	T	150048162	4	4	179	1	0	0	0	0	0	1	0	0	10765	273	10	5	60	5	NUP43	6	150048162	Nonsense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	37376534	150048162	21066905	90	96397											
ULBP1	80329	broad.mit.edu	37	chr6	150290326	150290326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaagttcctcctctttgActcaaacaacagaaagtgga	7	10	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:150290326A>G	uc003qnp.2	+	3	498	c.455A>G	c.(454-456)GAC>GGC	p.D152G		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	152	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CTCCTCTTTGACTCAAACAAC	0.498													G	150290326	A	G	150290326	3	3	179	1	0	0	0	0	1	0	0	0	16969	275	10	3	465	3	ULBP1	6	150290326	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	242164	150290326	20824741	91	96398											
SYNE1	23345	broad.mit.edu	37	chr6	152746668	152746668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggcctgggatacaacTtcattttgcagtgcctgaaa	10	8	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:152746668T>G	uc010kiw.2	-	39	5717	c.5115A>C	c.(5113-5115)GAA>GAC	p.E1705D	SYNE1_uc003qot.3_Missense_Mutation_p.E1712D|SYNE1_uc003qou.3_Missense_Mutation_p.E1705D|SYNE1_uc010kjb.1_Missense_Mutation_p.E1688D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1705	Spectrin 2.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGATACAACTTCATTTTGCA	0.413										HNSCC(10;0.0054)			G	152746668	T	G	152746668	3	3	179	1	0	0	0	0	1	0	0	0	15442	1606	56	5	21783	5	SYNE1	6	152746668	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	2456342	152746668	18368399	92	96399											
C6orf118	168090	broad.mit.edu	37	chr6	165715428	165715428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggttcaggtacctgaacAgcggggtgtcctgggcctca	17	10	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr6:165715428A>G	uc003qum.3	-	2	419	c.383T>C	c.(382-384)CTG>CCG	p.L128P	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	128											0		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)		GTACCTGAACAGCGGGGTGTC	0.617													G	165715428	A	G	165715428	3	3	179	1	0	0	0	0	1	0	0	0	2323	188	7	3	1058	3	C6orf118	6	165715428	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	12968760	165715428	5399639	93	96400											
ZNF713	349075	broad.mit.edu	37	chr7	56007364	56007364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attcatcctttactcaacatCtgaggattcatactggagaa	6	9	4	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:56007364C>G	uc003trc.1	+	4	996	c.958C>G	c.(958-960)CTG>GTG	p.L320V	ZNF713_uc003tra.1_Missense_Mutation_p.L333V|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	320	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACTCAACATCTGAGGATTCA	0.403													G	56007364	C	G	56007364	3	3	179	1	0	0	0	0	1	0	0	0	18114	912	32	5	972	5	ZNF713	7	56007364	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08		56007364	103131299	94	96401											
ZNF273	10793	broad.mit.edu	37	chr7	64378004	64378004	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatagaattctctctggagGagtggcaatgcctggacact	11	10	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:64378004G>T	uc003tto.2	+	2	224	c.148G>T	c.(148-150)GAG>TAG	p.E50*	ZNF273_uc003ttl.2_5'UTR|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTCTCTGGAGGAGTGGCAATG	0.408													T	64378004	G	T	64378004	4	4	179	1	0	0	0	0	0	1	0	0	17805	1175	41	5	154	5	ZNF273	7	64378004	Nonsense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	8370640	64378004	94760659	95	96402											
SRRM3	222183	broad.mit.edu	37	chr7	75889227	75889227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgtcgccggcagtgtGgcggagaccccgcggctgac	16	15	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:75889227G>A	uc010ldi.2	+	4	548	c.339G>A	c.(337-339)GTG>GTA	p.V113V		NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						CCGGCAGTGTGGCGGAGACCC	0.687													A	75889227	G	A	75889227	2	1	179	1	0	0	0	0	0	0	0	1	15169	1335	47	4		4	SRRM3	7	75889227	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	11511223	75889227	83249436	96	96403											
PCLO	27445	broad.mit.edu	37	chr7	82585678	82585678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgatgagccaacactagTtcttcgttttctttgtggaa	9	8	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:82585678T>G	uc003uhx.2	-	5	4880	c.4591A>C	c.(4591-4593)ACT>CCT	p.T1531P	PCLO_uc003uhv.2_Missense_Mutation_p.T1531P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1462					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCAACACTAGTTCTTCGTTTT	0.398													G	82585678	T	G	82585678	3	3	179	1	0	0	0	0	1	0	0	0	11583	1725	60	5	10938	5	PCLO	7	82585678	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	6696451	82585678	76552985	97	96404											
PCLO	27445	broad.mit.edu	37	chr7	82595388	82595388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcaggggttggctttTtttcttctaggagtggcttt	12	6	4	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:82595388T>G	uc003uhx.2	-	4	4005	c.3716A>C	c.(3715-3717)AAA>ACA	p.K1239T	PCLO_uc003uhv.2_Missense_Mutation_p.K1239T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1178					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGTTGGCTTTTTTTCTTCTAG	0.383													G	82595388	T	G	82595388	3	3	179	1	0	0	0	0	1	0	0	0	11583	1841	64	5	11817	5	PCLO	7	82595388	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	9710	82595388	76543275	98	96405											
SEMA3A	10371	broad.mit.edu	37	chr7	83591046	83591046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtttgtatgaacccatgttCcaccgcatggcagaggtaat	10	9	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:83591046C>T	uc003uhz.2	-	17	2272	c.1957G>A	c.(1957-1959)GAA>AAA	p.E653K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	653	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						AACCCATGTTCCACCGCATGG	0.438													T	83591046	C	T	83591046	3	4	179	1	0	0	0	0	1	0	0	0	14024	864	30	4	362	4	SEMA3A	7	83591046	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	995658	83591046	75547617	99	96406											
C7orf58	79974	broad.mit.edu	37	chr7	120907303	120907303	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcctagtgatcatcaaaActttgggaattggatttcat	7	6	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:120907303A>C	uc003vjq.3	+	21	3115	c.2668A>C	c.(2668-2670)ACT>CCT	p.T890P		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	890						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GATCATCAAAACTTTGGGAAT	0.194													C	120907303	A	C	120907303	3	2	179	1	0	0	0	0	1	0	0	0	2405	43	2	5	2792	5	C7orf58	7	120907303	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	37316257	120907303	38231360	100	96407											
ASB15	142685	broad.mit.edu	37	chr7	123264689	123264689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacactagcctagaccagcCctgtgtcaagcgatggtcag	10	12	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:123264689C>A	uc003vku.1	+	8	810	c.518C>A	c.(517-519)CCC>CAC	p.P173H	ASB15_uc003vkv.1_Missense_Mutation_p.P173H|ASB15_uc003vkw.1_Missense_Mutation_p.P173H	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	173	ANK 2.				intracellular signal transduction					skin(2)|lung(1)	3						CTAGACCAGCCCTGTGTCAAG	0.453											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	123264689	C	A	123264689	3	1	179	1	0	0	0	0	1	0	0	0	1019	623	22	5	536	5	ASB15	7	123264689	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	2357386	123264689	35873974	101	96408											
ATG9B	285973	broad.mit.edu	37	chr7	150718411	150718411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagcagcgggctggagCggatcctgtatggggttggg	20	8	0	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr7:150718411C>T	uc011kvc.1	-	5	903	c.827G>A	c.(826-828)CGC>CAC	p.R276H	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	276	Lumenal (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCTGGAGCGGATCCTGTA	0.612													T	150718411	C	T	150718411	3	4	179	1	0	0	0	0	1	0	0	0	1103	768	27	1	1982	1	ATG9B	7	150718411	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	27453722	150718411	8420252	102	96409											
DLC1	10395	broad.mit.edu	37	chr8	13356670	13356670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacctttggtggacttttgTtttgatgttgtgaaaaacca	10	5	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:13356670T>G	uc003wwm.2	-	2	1355	c.911A>C	c.(910-912)AAC>ACC	p.N304T	DLC1_uc003wwn.2_Missense_Mutation_p.N304T|DLC1_uc011kxy.1_Missense_Mutation_p.N304T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	304					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGACTTTTGTTTTGATGTTG	0.468													G	13356670	T	G	13356670	3	3	179	1	0	0	0	0	1	0	0	0	4550	1725	60	5	3828	5	DLC1	8	13356670	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08		13356670	133007352	103	96410											
WHSC1L1	54904	broad.mit.edu	37	chr8	38139039	38139039	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgttctcgtgggctcgcttGattcgcaatctgcattcttc	9	12	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:38139039G>T	uc003xli.2	-	20	4082	c.3564C>A	c.(3562-3564)ATC>ATA	p.I1188I	WHSC1L1_uc011lbm.1_Silent_p.I1188I|WHSC1L1_uc010lwe.2_Silent_p.I1139I|WHSC1L1_uc003xlh.2_5'Flank	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1188	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			GGGCTCGCTTGATTCGCAATC	0.318			T	NUP98	AML								T	38139039	G	T	38139039	2	4	179	1	0	0	0	0	0	0	0	1	17360	1280	45	5		5	WHSC1L1	8	38139039	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	24782369	38139039	108224983	104	96411											
RP1	6101	broad.mit.edu	37	chr8	55540434	55540434	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggagcttgcccaattgatgAgacctacgttcctgtcaatg	11	10	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:55540434A>T	uc003xsd.1	+	4	4140	c.3992A>T	c.(3991-3993)GAG>GTG	p.E1331V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1331					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			skin(7)|ovary(4)|pancreas(1)	12		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)			CCAATTGATGAGACCTACGTT	0.393													T	55540434	A	T	55540434	3	4	179	1	0	0	0	0	1	0	0	0	13532	304	11	5	4002	5	RP1	8	55540434	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	17401395	55540434	90823588	105	96412											
TRPA1	8989	broad.mit.edu	37	chr8	72971670	72971670	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtgatcaaacaatgaAgctctgaaaaaacagaatta	7	6	3	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:72971670A>T	uc003xza.2	-	8	1123	c.948T>A	c.(946-948)GCT>GCA	p.A316A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	316	ANK 8.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CAAACAATGAAGCTCTGAAAA	0.234													T	72971670	A	T	72971670	2	4	179	1	0	0	0	0	0	0	0	1	16574	59	3	5		5	TRPA1	8	72971670	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	17431236	72971670	73392352	106	96413											
NECAB1	64168	broad.mit.edu	37	chr8	91963378	91963378	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcaagacattccaaagaAgtaatgtggatttcttggaa	9	5	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:91963378A>C	uc011lgg.1	+	12	1170	c.976A>C	c.(976-978)AGT>CGT	p.S326R	NECAB1_uc003yer.2_Missense_Mutation_p.S75R	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	326					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATTCCAAAGAAGTAATGTGGA	0.353													C	91963378	A	C	91963378	3	2	179	1	0	0	0	0	1	0	0	0	10304	72	3	5	1022	5	NECAB1	8	91963378	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	18991708	91963378	54400644	107	96414											
RIMS2	9699	broad.mit.edu	37	chr8	105263313	105263313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagccaaaaagaaaacaaaAgtggcaagaaaaacgctgga	9	6	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:105263313A>C	uc003yls.2	+	27	4048	c.3807A>C	c.(3805-3807)AAA>AAC	p.K1269N	RIMS2_uc003ylp.2_Missense_Mutation_p.K1251N|RIMS2_uc003ylw.2_Missense_Mutation_p.K1258N|RIMS2_uc003ylq.2_Missense_Mutation_p.K1065N|RIMS2_uc003ylr.2_Missense_Mutation_p.K1090N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1313	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAAAACAAAAGTGGCAAGAA	0.378										HNSCC(12;0.0054)			C	105263313	A	C	105263313	3	2	179	1	0	0	0	0	1	0	0	0	13368	69	3	5	4039	5	RIMS2	8	105263313	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	13299935	105263313	41100709	108	96415											
CSMD3	114788	broad.mit.edu	37	chr8	113256673	113256673	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttatcggatctacacactCtatgttctgttccacctgct	6	12	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:113256673C>A	uc003ynu.2	-	65	10511	c.10352G>T	c.(10351-10353)AGA>ATA	p.R3451I	CSMD3_uc003yns.2_Missense_Mutation_p.R2653I|CSMD3_uc003ynt.2_Missense_Mutation_p.R3411I|CSMD3_uc011lhx.1_Missense_Mutation_p.R3282I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3451	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCTACACACTCTATGTTCTGT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113256673	C	A	113256673	3	1	179	1	0	0	0	0	1	0	0	0	3946	913	32	5	799	5	CSMD3	8	113256673	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	7993360	113256673	33107349	109	96416											
CSMD3	114788	broad.mit.edu	37	chr8	113256738	113256738	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatcagtgtatacccatgAgatggaaggtccatccctac	8	10	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:113256738A>G	uc003ynu.2	-	65	10446	c.10287T>C	c.(10285-10287)TCT>TCC	p.S3429S	CSMD3_uc003yns.2_Silent_p.S2631S|CSMD3_uc003ynt.2_Silent_p.S3389S|CSMD3_uc011lhx.1_Silent_p.S3260S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3429	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TATACCCATGAGATGGAAGGT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113256738	A	G	113256738	2	3	179	1	0	0	0	0	0	0	0	1	3946	291	11	3		3	CSMD3	8	113256738	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	65	113256738	33107284	110	96417											
TRPS1	7227	broad.mit.edu	37	chr8	116631435	116631435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaccagaaaacacagaaCggttgaccttctggaagtct	9	11	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:116631435C>T	uc003ynz.2	-	2	1310	c.851G>A	c.(850-852)CGT>CAT	p.R284H	TRPS1_uc011lhy.1_Missense_Mutation_p.R288H|TRPS1_uc003yny.2_Missense_Mutation_p.R297H|TRPS1_uc010mcy.2_Missense_Mutation_p.R284H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	284					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.R284P(1)		ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			AAACACAGAACGGTTGACCTT	0.453									Langer-Giedion_syndrome				T	116631435	C	T	116631435	3	4	179	1	0	0	0	0	1	0	0	0	16590	536	19	1	3014	1	TRPS1	8	116631435	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	3374697	116631435	29732587	111	96418											
EXT1	2131	broad.mit.edu	37	chr8	119122981	119122982	+	Frame_Shift_Ins	INS	-	-	GACT													aagggtgaaatcgaagcaggINSactccatgcggcacttcttg							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:119122980_119122981G>GGACT	uc003yok.1	-	0	1078_1079	c.305_306C>AGTCC	c.(304-306)tccfs	p.S102fs		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	102					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AATCGAAGCAGGACTCCATGCG	0.48			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				GACT	119122982	-	GACT	119122981	7	5	179	1	0	1	1	0	0	0	0	0	5323	1174	41	0	1979	0	EXT1	8	119122981	Frame_Shift_Ins	INS	-	TCGA-CG-4466-01A-01D-1158-08	2491546	119122981	27241041	112	96419											
TAF2	6873	broad.mit.edu	37	chr8	120814048	120814048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttacctcatgcatgtatgGatctaccagtatttcaaatg	6	9	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:120814048G>A	uc003you.2	-	6	1048	c.778C>T	c.(778-780)CCA>TCA	p.P260S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	260					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			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCATGTATGGATCTACCAGT	0.353													A	120814048	G	A	120814048	3	1	179	1	0	0	0	0	1	0	0	0	15521	1174	41	4	2905	4	TAF2	8	120814048	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	1691067	120814048	25549974	113	96420											
BAI1	575	broad.mit.edu	37	chr8	143562905	143562905	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctggccaaggctcagCgagggctgcctggggagggg	19	11	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:143562905C>T	uc003ywm.2	+	10	2146	c.1963C>T	c.(1963-1965)CGA>TGA	p.R655*		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	655	Extracellular (Potential).				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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					CAAGGCTCAGCGAGGGCTGCC	0.642													T	143562905	C	T	143562905	4	4	179	1	0	0	0	0	0	1	0	0	1298	760	27	1	2001	1	BAI1	8	143562905	Nonsense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	22748857	143562905	2801117	114	96421											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806488	145806488	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaccgtgcgctgcgtgctgGcattgtagtagtagaagcgg	15	9	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr8:145806488G>C	uc003zdt.1	-	4	809	c.254C>G	c.(253-255)GCC>GGC	p.A85G	ARHGAP39_uc011llk.1_Missense_Mutation_p.A85G|ARHGAP39_uc003zds.1_Missense_Mutation_p.A85G	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	85	WW 2.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CTGCGTGCTGGCATTGTAGTA	0.677													C	145806488	G	C	145806488	3	2	179	1	0	0	0	0	1	0	0	0	884	1203	42	5	3130	5	ARHGAP39	8	145806488	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	2243583	145806488	557534	115	96422											
BNC2	54796	broad.mit.edu	37	chr9	16436586	16436586	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaaacccattgggggtcGgccagggcttgtgagtgcca	16	9	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:16436586G>A	uc003zml.2	-	6	1746	c.1606C>T	c.(1606-1608)CGA>TGA	p.R536*	BNC2_uc011lmw.1_Nonsense_Mutation_p.R441*|BNC2_uc003zmm.2_Nonsense_Mutation_p.R494*|BNC2_uc003zmq.1_Nonsense_Mutation_p.R550*|BNC2_uc003zmr.1_Nonsense_Mutation_p.R573*|BNC2_uc003zmp.1_Nonsense_Mutation_p.R564*|BNC2_uc010mij.1_Nonsense_Mutation_p.R458*|BNC2_uc011lmv.1_Nonsense_Mutation_p.R362*|BNC2_uc003zmo.1_Nonsense_Mutation_p.R458*|BNC2_uc003zmj.2_Nonsense_Mutation_p.R301*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.R301*|BNC2_uc003zmn.1_Nonsense_Mutation_p.R301*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	536	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTGGGGGTCGGCCAGGGCTT	0.493													A	16436586	G	A	16436586	4	1	179	1	0	0	0	0	0	1	0	0	1475	1124	39	1	1701	1	BNC2	9	16436586	Nonsense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08		16436586	124776845	116	96423											
CNTNAP3	79937	broad.mit.edu	37	chr9	39178353	39178353	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaaaataaaccacctcAgattctaggaaagaagatat	5	9	3	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:39178353A>C	uc004abi.2	-	5	782	c.543T>G	c.(541-543)TCT>TCG	p.S181S	CNTNAP3_uc004abj.2_Silent_p.S181S|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.S181S|CNTNAP3_uc011lqs.1_Silent_p.S181S|CNTNAP3_uc004abl.1_Silent_p.S93S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	181	Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAACCACCTCAGATTCTAGGA	0.323													C	39178353	A	C	39178353	2	2	179	1	0	0	0	0	0	0	0	1	3648	175	7	5		5	CNTNAP3	9	39178353	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	22741767	39178353	102035078	117	96424											
PRKACG	5568	broad.mit.edu	37	chr9	71628451	71628451	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcacgcgcttggcgaaaccGaagtccgtcacctgcaggta	11	13	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:71628451G>A	uc004agy.2	-	1	589	c.558C>T	c.(556-558)TTC>TTT	p.F186F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	186	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			ovary(1)|pancreas(1)|skin(1)	3						TGGCGAAACCGAAGTCCGTCA	0.622													A	71628451	G	A	71628451	2	1	179	1	0	0	0	0	0	0	0	1	12499	1049	37	1		1	PRKACG	9	71628451	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	32450098	71628451	69584980	118	96425											
TLE4	7091	broad.mit.edu	37	chr9	82322115	82322115	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttacagagatggttTtgtcgcctgtggtttatggt	15	4	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:82322115T>G	uc004ald.2	+	12	1842	c.993T>G	c.(991-993)TTT>TTG	p.F331L	TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						AGAGATGGTTTTGTCGCCTGT	0.378													G	82322115	T	G	82322115	3	3	179	1	0	0	0	0	1	0	0	0	15938	1856	64	5		5	TLE4	9	82322115	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	10693664	82322115	58891316	119	96426											
OR13C4	138804	broad.mit.edu	37	chr9	107289029	107289029	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgtttgcacagttgaattGattccaccagaaagccatga	9	8	0	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:107289029G>T	uc011lvn.1	-	1	462	c.462C>A	c.(460-462)ATC>ATA	p.I154I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CAGTTGAATTGATTCCACCAG	0.413													T	107289029	G	T	107289029	2	4	179	1	0	0	0	0	0	0	0	1	10936	1280	45	5		5	OR13C4	9	107289029	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	24966914	107289029	33924402	120	96427											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112918660	112918660	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccccagcttgcagccTgacttagcccctgaagaggc	12	14	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:112918660T>G	uc004bej.3	+	9	3237	c.3057T>G	c.(3055-3057)CCT>CCG	p.P1019P	PALM2-AKAP2_uc004bek.3_Silent_p.P1019P|AKAP2_uc011lwi.1_Silent_p.P877P|AKAP2_uc004bem.2_Silent_p.P877P|AKAP2_uc011lwj.1_Silent_p.P788P|PALM2-AKAP2_uc004ben.2_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 protein isoform 1	788							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GCTTGCAGCCTGACTTAGCCC	0.512													G	112918660	T	G	112918660	2	3	179	1	0	0	0	0	0	0	0	1	11410	1567	55	5		5	PALM2-AKAP2	9	112918660	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	5629631	112918660	28294771	121	96428											
ALAD	210	broad.mit.edu	37	chr9	116151291	116151291	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcatggcctccagtacGgcagccttgagatcaaatgc	11	12	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:116151291G>C	uc011lxf.1	-	11	1099	c.897C>G	c.(895-897)GCC>GCG	p.A299A	ALAD_uc011lxe.1_Silent_p.A282A|ALAD_uc004bhl.3_Silent_p.A328A	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	299					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	CCTCCAGTACGGCAGCCTTGA	0.602													C	116151291	G	C	116151291	2	2	179	1	0	0	0	0	0	0	0	1	483	1103	39	5		5	ALAD	9	116151291	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	3232631	116151291	25062140	122	96429											
PAPPA	5069	broad.mit.edu	37	chr9	118989747	118989747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctttgcctggaagggAgaatcctggtgcagtatgct	13	8	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:118989747A>G	uc004bjn.2	+	6	2530	c.2149A>G	c.(2149-2151)AGA>GGA	p.R717G	PAPPA_uc011lxp.1_Missense_Mutation_p.R412G|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	717					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CCTGGAAGGGAGAATCCTGGT	0.527													G	118989747	A	G	118989747	3	3	179	1	0	0	0	0	1	0	0	0	11432	296	11	3	2171	3	PAPPA	9	118989747	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	2838456	118989747	22223684	123	96430											
TLR4	7099	broad.mit.edu	37	chr9	120475916	120475916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgaccttcctggacctcTctcagtgtcaactggagcag	9	13	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:120475916T>C	uc004bjz.2	+	3	1801	c.1510T>C	c.(1510-1512)TCT>CCT	p.S504P	TLR4_uc004bka.2_Missense_Mutation_p.S464P|TLR4_uc004bkb.2_Missense_Mutation_p.S304P	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	504	LRR 16.|Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						CCTGGACCTCTCTCAGTGTCA	0.438													C	120475916	T	C	120475916	3	2	179	1	0	0	0	0	1	0	0	0	15950	1551	54	3	1520	3	TLR4	9	120475916	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1486169	120475916	20737515	124	96431											
SPTAN1	6709	broad.mit.edu	37	chr9	131367582	131367582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttcccataggtaaactCccttggtgaaacagcagagc	8	11	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:131367582C>T	uc004bvl.3	+	31	3985	c.3872C>T	c.(3871-3873)TCC>TTC	p.S1291F	SPTAN1_uc004bvm.3_Missense_Mutation_p.S1291F|SPTAN1_uc004bvn.3_Missense_Mutation_p.S1271F	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1291	Spectrin 14.				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			breast(5)|ovary(4)|pancreas(1)	10						TAGGTAAACTCCCTTGGTGAA	0.522													T	131367582	C	T	131367582	3	4	179	1	0	0	0	0	1	0	0	0	15116	855	30	4	3990	4	SPTAN1	9	131367582	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	10891666	131367582	9845849	125	96432											
RAPGEF1	2889	broad.mit.edu	37	chr9	134465308	134465308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgtaccagcacgaagaaCgtgttcttgctgacgcgctt	10	13	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:134465308C>T	uc004cbc.2	-	16	2404	c.2274G>A	c.(2272-2274)ACG>ACA	p.T758T	RAPGEF1_uc004cbb.2_Silent_p.T776T	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	758	N-terminal Ras-GEF.				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			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCACGAAGAACGTGTTCTTGC	0.557													T	134465308	C	T	134465308	2	4	179	1	0	0	0	0	0	0	0	1	13043	523	19	1		1	RAPGEF1	9	134465308	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	3097726	134465308	6748123	126	96433											
SURF6	6838	broad.mit.edu	37	chr9	136199117	136199118	+	Frame_Shift_Ins	INS	-	-	A													cagcggcgtgaggttcccctINStcaccctctgcctcttctct							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:136199116_136199117C>CA	uc004cdb.4	-	4	752_753	c.674_675G>TG	c.(673-675)aagfs	p.K225fs		NM_006753	NP_006744	O75683	SURF6_HUMAN	Homo sapiens surfeit 6 (SURF6), mRNA.	225						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)		TGAGGTTCCCCTTCACCCTCTG	0.658													A	136199118	-	A	136199117	7	5	179	1	0	1	1	0	0	0	0	0	15403	1609	56	0	415	0	SURF6	9	136199117	Frame_Shift_Ins	INS	-	TCGA-CG-4466-01A-01D-1158-08	1733809	136199117	5014314	127	96434											
COL5A1	1289	broad.mit.edu	37	chr9	137666757	137666757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtcctcgaggagtcaAggtgagagagactcacgcca	13	12	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr9:137666757A>G	uc004cfe.2	+	27	2766	c.2384A>G	c.(2383-2385)AAG>AGG	p.K795R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	795	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		CGAGGAGTCAAGGTGAGAGAG	0.572													G	137666757	A	G	137666757	3	3	179	1	0	0	0	0	1	0	0	0	3696	86	3	3	2490	3	COL5A1	9	137666757	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	1467640	137666757	3546674	128	96435											
NEBL	10529	broad.mit.edu	37	chr10	21104607	21104607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccatttcaggagttacacTtaaagtggtagctcttccca	7	10	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:21104607T>G	uc001iqi.2	-	22	2585	c.2188A>C	c.(2188-2190)AGT>CGT	p.S730R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	730	Nebulin 21.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GGAGTTACACTTAAAGTGGTA	0.333													G	21104607	T	G	21104607	3	3	179	1	0	0	0	0	1	0	0	0	10303	1609	56	5	884	5	NEBL	10	21104607	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08		21104607	114430140	129	96436											
FZD8	8325	broad.mit.edu	37	chr10	35928888	35928888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgccgatgaagaggtagatGaccagcggcgccagcacgaa	15	10	0	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:35928888G>A	uc001iyz.1	-	1	1475	c.1470C>T	c.(1468-1470)GTC>GTT	p.V490V		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	490	Helical; Name=5; (Potential).				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				0						AGAGGTAGATGACCAGCGGCG	0.662													A	35928888	G	A	35928888	2	1	179	1	0	0	0	0	0	0	0	1	6136	1277	45	4		4	FZD8	10	35928888	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	14824281	35928888	99605859	130	96437											
ANKRD30A	91074	broad.mit.edu	37	chr10	37482012	37482012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctcctgataatgatggtTttctgaaggtaataactttt	8	5	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:37482012T>G	uc001iza.1	+	26	2464	c.2365T>G	c.(2365-2367)TTT>GTT	p.F789V		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	845						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TAATGATGGTTTTCTGAAGGT	0.284													G	37482012	T	G	37482012	3	3	179	1	0	0	0	0	1	0	0	0	658	1841	64	5	2467	5	ANKRD30A	10	37482012	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1553124	37482012	98052735	131	96438											
PCDH15	65217	broad.mit.edu	37	chr10	55626456	55626456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcgtcagttgcaataacTtgaaacttgaagtaggatct	9	6	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:55626456T>G	uc001jju.1	-	27	4058	c.3663A>C	c.(3661-3663)CAA>CAC	p.Q1221H	PCDH15_uc010qhq.1_Missense_Mutation_p.Q1226H|PCDH15_uc010qhr.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qhs.1_Missense_Mutation_p.Q1233H|PCDH15_uc010qht.1_Missense_Mutation_p.Q1228H|PCDH15_uc010qhu.1_Missense_Mutation_p.Q1221H|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1184H|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1150H|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1226H|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qia.1_Missense_Mutation_p.Q1199H|PCDH15_uc010qib.1_Missense_Mutation_p.Q1199H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1221	Cadherin 11.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGCAATAACTTGAAACTTGA	0.408										HNSCC(58;0.16)			G	55626456	T	G	55626456	3	3	179	1	0	0	0	0	1	0	0	0	11511	1606	56	5	3851	5	PCDH15	10	55626456	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	18144444	55626456	79908291	132	96439											
ARID5B	84159	broad.mit.edu	37	chr10	63852409	63852409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcacggtgggcattccGggggcggatcagaaggccac	17	12	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:63852409G>A	uc001jlt.1	+	10	3213	c.3187G>A	c.(3187-3189)GGG>AGG	p.G1063R		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1063					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			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					TGGGCATTCCGGGGGCGGATC	0.612													A	63852409	G	A	63852409	3	1	179	1	0	0	0	0	1	0	0	0	922	1116	39	1	3225	1	ARID5B	10	63852409	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	8225953	63852409	71682338	133	96440											
SLC25A16	8034	broad.mit.edu	37	chr10	70248271	70248271	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccacaaagtaagttTacatgagttttcaaaactaa	4	9	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:70248271T>G	uc001joi.2	-	7	1178	c.726A>C	c.(724-726)GTA>GTC	p.V242V	SLC25A16_uc010qix.1_Silent_p.V108V|SLC25A16_uc010qiy.1_Silent_p.V144V|SLC25A16_uc001joj.2_Silent_p.V144V	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	242	Solcar 3.				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0						AAAGTAAGTTTACATGAGTTT	0.393													G	70248271	T	G	70248271	2	3	179	1	0	0	0	0	0	0	0	1	14478	1741	61	5		5	SLC25A16	10	70248271	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	6395862	70248271	65286476	134	96441											
ACTA2	59	broad.mit.edu	37	chr10	90708675	90708675	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caccaaggcagtgctgtcctCttcttcacacatagctggag	9	13	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:90708675C>G	uc001kfp.2	-	2	129	c.13G>C	c.(13-15)GAG>CAG	p.E5Q	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.E5Q|ACTA2_uc010qmz.1_Missense_Mutation_p.E5Q	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	5					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GTGCTGTCCTCTTCTTCACAC	0.532													G	90708675	C	G	90708675	3	3	179	1	0	0	0	0	1	0	0	0	192	922	32	5	1152	5	ACTA2	10	90708675	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	20460404	90708675	44826072	135	96442											
ACSL5	51703	broad.mit.edu	37	chr10	114171218	114171218	+	Frame_Shift_Del	DEL	C	C	-													ctcttatttcctacaggtgaCcccaaaggagccatgataac							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:114171218delC	uc001kzs.2	+	10	942	c.801delC	c.(799-801)GACfs	p.D267fs	ACSL5_uc001kzt.2_Frame_Shift_Del_p.D267fs|ACSL5_uc001kzu.2_Frame_Shift_Del_p.D323fs|ACSL5_uc009xxz.2_Frame_Shift_Del_p.D267fs|ACSL5_uc010qrj.1_Frame_Shift_Del_p.D49fs	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	267	Cytoplasmic (Potential).				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			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTACAGGTGACCCCAAAGGAG	0.403													-	114171218	C	-	114171218	7	5	179	1	0	1	0	1	0	0	0	0	180	506	18	0	1007	0	ACSL5	10	114171218	Frame_Shift_Del	DEL	C	TCGA-CG-4466-01A-01D-1158-08	23462543	114171218	21363529	136	96443											
EIF3A	8661	broad.mit.edu	37	chr10	120810145	120810145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgttcttccaatcgattatgCctttcttctgctaatcgctc	5	13	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr10:120810145C>G	uc001ldu.2	-	16	2507	c.2361G>C	c.(2359-2361)AGG>AGC	p.R787S	EIF3A_uc010qsu.1_Missense_Mutation_p.R753S|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	787	Interaction with EIF3B.|Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCGATTATGCCTTTCTTCTG	0.428													G	120810145	C	G	120810145	3	3	179	1	0	0	0	0	1	0	0	0	5012	738	26	5	1815	5	EIF3A	10	120810145	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	6638927	120810145	14724602	137	96444											
OR51A4	401666	broad.mit.edu	37	chr11	4967855	4967855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtgaaagggaagggaAgaaccaggagcatgctctta	13	5	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:4967855A>C	uc010qys.1	-	1	476	c.476T>G	c.(475-477)CTT>CGT	p.L159R		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		AGGGAAGGGAAGAACCAGGAG	0.438													C	4967855	A	C	4967855	3	2	179	1	0	0	0	0	1	0	0	0	11087	72	3	5	467	5	OR51A4	11	4967855	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08		4967855	130038661	138	96445											
OR52A5	390054	broad.mit.edu	37	chr11	5153446	5153446	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtccaatatgagttaAgaactgctgggaaaagatgg	11	7	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:5153446A>C	uc010qyx.1	-	1	427	c.427T>G	c.(427-429)TTA>GTA	p.L143V		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		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)		ATATGAGTTAAGAACTGCTGG	0.478													C	5153446	A	C	5153446	3	2	179	1	0	0	0	0	1	0	0	0	11110	69	3	5	526	5	OR52A5	11	5153446	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	185591	5153446	129853070	139	96446											
HBE1	3046	broad.mit.edu	37	chr11	5289717	5289717	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcagtggtacttatgggcCagggcaatggcgacagcaga	14	9	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:5289717C>G	uc001mal.1	-	3	679	c.426G>C	c.(424-426)CTG>CTC	p.L142L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L142L	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	142					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTATGGGCCAGGGCAATGG	0.547													G	5289717	C	G	5289717	2	3	179	1	0	0	0	0	0	0	0	1	6980	581	21	5		5	HBE1	11	5289717	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	136271	5289717	129716799	140	96447											
OR52E4	390081	broad.mit.edu	37	chr11	5905963	5905963	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccatcagtatcctagcTtctgtggttgttggaagaaa	9	7	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:5905963T>G	uc010qzs.1	+	1	441	c.441T>G	c.(439-441)GCT>GCG	p.A147A	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		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)		GTATCCTAGCTTCTGTGGTTG	0.448													G	5905963	T	G	5905963	2	3	179	1	0	0	0	0	0	0	0	1	11116	1596	56	5		5	OR52E4	11	5905963	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	616246	5905963	129100553	141	96448											
OR2D3	120775	broad.mit.edu	37	chr11	6942315	6942315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacctttgtgtccaagtTtatcttcctgggtctttcac	6	12	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:6942315T>G	uc010rav.1	+	1	83	c.83T>G	c.(82-84)TTT>TGT	p.F28C		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	28	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGTCCAAGTTTATCTTCCTG	0.413													G	6942315	T	G	6942315	3	3	179	1	0	0	0	0	1	0	0	0	10995	1841	64	5	85	5	OR2D3	11	6942315	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1036352	6942315	128064201	142	96449											
OR2D3	120775	broad.mit.edu	37	chr11	6942465	6942465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacactcccatgtatttttTtcttagaaatctctcctttg	3	11	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:6942465T>G	uc010rav.1	+	1	233	c.233T>G	c.(232-234)TTT>TGT	p.F78C		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGTATTTTTTTCTTAGAAAT	0.398													G	6942465	T	G	6942465	3	3	179	1	0	0	0	0	1	0	0	0	10995	1841	64	5	235	5	OR2D3	11	6942465	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	150	6942465	128064051	143	96450											
NELL1	4745	broad.mit.edu	37	chr11	20949921	20949921	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgtccttccttcctcAgagtggtgccgtggaatgcc	10	13	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:20949921A>G	uc001mqe.2	+	9	1048	c.895_splice	c.e9-2	p.S299_splice	NELL1_uc001mqf.2_Splice_Site_p.S299_splice|NELL1_uc009yid.2_Splice_Site_p.S327_splice|NELL1_uc010rdo.1_Splice_Site_p.S242_splice|NELL1_uc010rdp.1_Splice_Site_p.S59_splice	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TTCCTTCCTCAGAGTGGTGCC	0.512													G	20949921	A	G	20949921	5	3	179	1	0	0	0	0	0	0	1	0	10333	202	7	3	927	3	NELL1	11	20949921	Splice_Site	SNP	A	TCGA-CG-4466-01A-01D-1158-08	14007456	20949921	114056595	144	96451											
OR5I1	10798	broad.mit.edu	37	chr11	55703186	55703186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcccactgaaagagcGgatctttaagactgagagaa	9	10	1	5			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:55703186G>A	uc010ris.1	-	1	691	c.691C>T	c.(691-693)CGC>TGC	p.R231C		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTGAAAGAGCGGATCTTTAAG	0.453													A	55703186	G	A	55703186	3	1	179	1	0	0	0	0	1	0	0	0	11164	1116	39	1	256	1	OR5I1	11	55703186	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	34753265	55703186	79303330	145	96452											
TBX10	347853	broad.mit.edu	37	chr11	67399229	67399229	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgggatccctaggtggctCggggctccagagtacaggct	15	11	0	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:67399229C>T	uc001omp.2	-	8	1093	c.1005G>A	c.(1003-1005)CCG>CCA	p.P335P	NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	335					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTAGGTGGCTCGGGGCTCCAG	0.652													T	67399229	C	T	67399229	2	4	179	1	0	0	0	0	0	0	0	1	15648	871	31	1		1	TBX10	11	67399229	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	11696043	67399229	67607287	146	96453											
FOLH1B	219595	broad.mit.edu	37	chr11	89402649	89402649	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctacaatgttggacctggcTttactggaaacttttctaca	7	10	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:89402649T>A	uc001pda.2	+	3	599	c.73T>A	c.(73-75)TTT>ATT	p.F25I		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	25					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TGGACCTGGCTTTACTGGAAA	0.373													A	89402649	T	A	89402649	3	1	179	1	0	0	0	0	1	0	0	0	5980	1609	56	5	75	5	FOLH1B	11	89402649	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	22003420	89402649	45603867	147	96454											
FAT3	120114	broad.mit.edu	37	chr11	92533693	92533693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcacatacgtagctgaggTgagagagaacgtggctgcag	15	7	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:92533693T>C	uc001pdj.3	+	9	7531	c.7514T>C	c.(7513-7515)GTG>GCG	p.V2505A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2505	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTAGCTGAGGTGAGAGAGAAC	0.493										TCGA Ovarian(4;0.039)			C	92533693	T	C	92533693	3	2	179	1	0	0	0	0	1	0	0	0	5691	1696	59	3	7548	3	FAT3	11	92533693	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	3131044	92533693	42472823	148	96455											
AMOTL1	154810	broad.mit.edu	37	chr11	94532886	94532886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatggagaaacaggtccGgtccacgcagcctcagcaga	14	11	1	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:94532886G>A	uc001pfb.2	+	3	700	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	AMOTL1_uc001pfc.2_Missense_Mutation_p.R127Q	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	177						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AAACAGGTCCGGTCCACGCAG	0.498													A	94532886	G	A	94532886	3	1	179	1	0	0	0	0	1	0	0	0	583	1116	39	1	540	1	AMOTL1	11	94532886	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	1999193	94532886	40473630	149	96456											
POU2F3	25833	broad.mit.edu	37	chr11	120180199	120180199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccatggagaaggaggtGgtgagggtctggttctgcaa	17	5	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:120180199G>A	uc001pxc.2	+	10	1074	c.972G>A	c.(970-972)GTG>GTA	p.V324V	POU2F3_uc010rzk.1_Silent_p.V278V|POU2F3_uc010rzl.1_Silent_p.V254V|POU2F3_uc001pxe.1_Silent_p.V109V	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	324	Homeobox.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		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)		AGAAGGAGGTGGTGAGGGTCT	0.547													A	120180199	G	A	120180199	2	1	179	1	0	0	0	0	0	0	0	1	12273	1335	47	4		4	POU2F3	11	120180199	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	25647313	120180199	14826317	150	96457											
OR6X1	390260	broad.mit.edu	37	chr11	123624580	123624580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggacagaatgtagataTaagaaatcatattaaagaga	9	3	1	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr11:123624580T>C	uc010rzy.1	-	1	647	c.647A>G	c.(646-648)TAT>TGT	p.Y216C		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		AATGTAGATATAAGAAATCAT	0.483													C	123624580	T	C	123624580	3	2	179	1	0	0	0	0	1	0	0	0	11212	1406	49	3	293	3	OR6X1	11	123624580	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	3444381	123624580	11381936	151	96458											
CLEC2D	29121	broad.mit.edu	37	chr12	9847365	9847365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcttgcaggtttcctatCctgggagcaggagagtgtgc	13	9	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:9847365C>T	uc001qwg.1	+	5	493	c.471C>T	c.(469-471)ATC>ATT	p.I157I	CLEC2D_uc001qwf.1_Missense_Mutation_p.P185S|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_Missense_Mutation_p.P81S	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	157	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						GGTTTCCTATCCTGGGAGCAG	0.423													T	9847365	C	T	9847365	2	4	179	1	0	0	0	0	0	0	0	1	3508	855	30	4		4	CLEC2D	12	9847365	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08		9847365	124004530	152	96459											
CD69	969	broad.mit.edu	37	chr12	9907796	9907796	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccagtcctcagagcatgaAgaaacatggctgtctgatgg	11	10	2	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:9907796A>C	uc001qwk.2	-	3	330	c.249T>G	c.(247-249)TCT>TCG	p.S83S	CD69_uc010sgu.1_Silent_p.S83S|CD69_uc010sgv.1_Silent_p.S83S	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	83	Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						CAGAGCATGAAGAAACATGGC	0.423													C	9907796	A	C	9907796	2	2	179	1	0	0	0	0	0	0	0	1	3031	59	3	5		5	CD69	12	9907796	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	60431	9907796	123944099	153	96460											
PTPRO	5800	broad.mit.edu	37	chr12	15636953	15636953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccaagatgataataacatcGttgtctcattagaagcttca	6	8	2	3	rs141750255		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:15636953G>C	uc001rcv.1	+	2	295	c.121G>C	c.(121-123)GTT>CTT	p.V41L	PTPRO_uc001rcw.1_Missense_Mutation_p.V41L|PTPRO_uc001rcu.1_Missense_Mutation_p.V41L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	41	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TAATAACATCGTTGTCTCATT	0.348													C	15636953	G	C	15636953	3	2	179	1	0	0	0	0	1	0	0	0	12809	1145	40	5	127	5	PTPRO	12	15636953	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	5729157	15636953	118214942	154	96461											
SLCO1B3	28234	broad.mit.edu	37	chr12	21033859	21033859	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgcaattgtgatgaaAgtcagtgggaaccagtctgt	13	6	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:21033859A>C	uc001rek.2	+	11	1528	c.1402A>C	c.(1402-1404)AGT>CGT	p.S468R	SLCO1B3_uc001rel.2_Missense_Mutation_p.S468R|SLCO1B3_uc010sil.1_Missense_Mutation_p.S468R|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.S293R	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	468	Extracellular (Potential).|Kazal-like.				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			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TTGTGATGAAAGTCAGTGGGA	0.368													C	21033859	A	C	21033859	3	2	179	1	0	0	0	0	1	0	0	0	14724	72	3	5	1440	5	SLCO1B3	12	21033859	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	5396906	21033859	112818036	155	96462											
LST-3TM12	338821	broad.mit.edu	37	chr12	21205069	21205069	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtagatgtaccactttcTtattgcaactcagagtgcaa	7	9	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:21205069T>G	uc010sin.1	+	9	1230	c.1230T>G	c.(1228-1230)TCT>TCG	p.S410S	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.S457S	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	410						membrane	transporter activity				0						TACCACTTTCTTATTGCAACT	0.308													G	21205069	T	G	21205069	2	3	179	1	0	0	0	0	0	0	0	1	9066	1596	56	5		5	LST-3TM12	12	21205069	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	171210	21205069	112646826	156	96463											
IAPP	3375	broad.mit.edu	37	chr12	21526276	21526276	+	Translation_Start_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattattctttgcagaaaatTtgagaagcaatgggcatcct	9	6	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:21526276T>G	uc001rev.2	+	2	143	c.-9T>G	c.(-11--7)ATTTG>ATGTG		SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	islet amyloid polypeptide precursor						apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)	TGCAGAAAATTTGAGAAGCAA	0.343													G	21526276	T	G	21526276	1	3	179	1	0	0	0	0	0	0	0	0	7472	1856	64	5		5	IAPP	12	21526276	Translation_Start_Site	SNP	T	TCGA-CG-4466-01A-01D-1158-08	321207	21526276	112325619	157	96464											
ESPL1	9700	broad.mit.edu	37	chr12	53686075	53686075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagtatggggcctcgcCagtgctgagtcaaggggtgg	16	10	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:53686075C>T	uc001sck.2	+	28	5901	c.5810C>T	c.(5809-5811)CCA>CTA	p.P1937L	ESPL1_uc001scj.2_Missense_Mutation_p.P1612L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1937					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			lung(1)|kidney(1)|skin(1)	3						GGGGCCTCGCCAGTGCTGAGT	0.527													T	53686075	C	T	53686075	3	4	179	1	0	0	0	0	1	0	0	0	5253	594	21	4	5916	4	ESPL1	12	53686075	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	32159799	53686075	80165820	158	96465											
OR6C3	254786	broad.mit.edu	37	chr12	55725817	55725817	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgactgaattttacatTttaactgccatgtcctatga	9	7	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:55725817T>C	uc010spj.1	+	1	333	c.333T>C	c.(331-333)ATT>ATC	p.I111I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AATTTTACATTTTAACTGCCA	0.428													C	55725817	T	C	55725817	2	2	179	1	0	0	0	0	0	0	0	1	11192	1829	64	3		3	OR6C3	12	55725817	Silent	SNP	T	TCGA-CG-4466-01A-01D-1158-08	2039742	55725817	78126078	159	96466											
PTPRB	5787	broad.mit.edu	37	chr12	70918302	70918302	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gattggaaacaaggggttttCttgttcactccgtagctttc	10	8	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:70918302C>G	uc001swb.3	-	31	5950	c.5920G>C	c.(5920-5922)GAA>CAA	p.E1974Q	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1884Q|PTPRB_uc010stp.1_Missense_Mutation_p.E1884Q|PTPRB_uc001swc.3_Missense_Mutation_p.E2192Q|PTPRB_uc001swa.3_Missense_Mutation_p.E2104Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1974	Cytoplasmic (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			AAGGGGTTTTCTTGTTCACTC	0.428													G	70918302	C	G	70918302	3	3	179	1	0	0	0	0	1	0	0	0	12796	922	32	5	81	5	PTPRB	12	70918302	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	15192485	70918302	62933593	160	96467											
ATP2B1	490	broad.mit.edu	37	chr12	90017964	90017964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actattttctacttactttgActgaataagccagtgagatc	6	8	1	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:90017964A>G	uc001tbh.2	-	8	1521	c.1340T>C	c.(1339-1341)GTC>GCC	p.V447A	ATP2B1_uc001tbg.2_Missense_Mutation_p.V447A|ATP2B1_uc001tbf.2_Missense_Mutation_p.V117A	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	447	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ACTTACTTTGACTGAATAAGC	0.388													G	90017964	A	G	90017964	3	3	179	1	0	0	0	0	1	0	0	0	1139	275	10	3	2532	3	ATP2B1	12	90017964	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	19099662	90017964	43833931	161	96468											
DAO	1610	broad.mit.edu	37	chr12	109294277	109294277	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaatcctggaagaaaAgaaattgtccagaatgccac	11	7	0	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:109294277A>C	uc001tnr.3	+	11	1163	c.1010A>C	c.(1009-1011)AAG>ACG	p.K337T	DAO_uc001tnq.3_Missense_Mutation_p.K271T|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	337					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						CTGGAAGAAAAGAAATTGTCC	0.542													C	109294277	A	C	109294277	3	2	179	1	0	0	0	0	1	0	0	0	4231	72	3	5	1048	5	DAO	12	109294277	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	19276313	109294277	24557618	162	96469											
RBM19	9904	broad.mit.edu	37	chr12	114397059	114397059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcactctcctgccCagaatcggagtcgaagttca	7	16	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:114397059C>G	uc009zwi.2	-	5	673	c.529G>C	c.(529-531)GGG>CGG	p.G177R	RBM19_uc001tvn.3_Missense_Mutation_p.G177R|RBM19_uc001tvm.2_Missense_Mutation_p.G177R	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	177					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCTCCTGCCCAGAATCGGAG	0.627													G	114397059	C	G	114397059	3	3	179	1	0	0	0	0	1	0	0	0	13121	594	21	5	2433	5	RBM19	12	114397059	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	5102782	114397059	19454836	163	96470											
RIMBP2	23504	broad.mit.edu	37	chr12	130884319	130884319	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcacttcttccaagaAgtttgagggcacaaggcctt	10	10	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr12:130884319A>C	uc001uil.2	-	18	3201	c.3037T>G	c.(3037-3039)TTC>GTC	p.F1013V		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1013	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		TCTTCCAAGAAGTTTGAGGGC	0.463													C	130884319	A	C	130884319	3	2	179	1	0	0	0	0	1	0	0	0	13363	72	3	5	129	5	RIMBP2	12	130884319	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	16487260	130884319	2967576	164	96471											
B3GALTL	145173	broad.mit.edu	37	chr13	31803342	31803342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaaaaggaattgtattcGtcatccagagtcaaagtaat	7	6	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:31803342G>A	uc010aaz.2	+	4	291	c.181G>A	c.(181-183)GTC>ATC	p.V61I		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	61	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		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)		AATTGTATTCGTCATCCAGAG	0.303													A	31803342	G	A	31803342	3	1	179	1	0	0	0	0	1	0	0	0	1252	1145	40	1	195	1	B3GALTL	13	31803342	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08		31803342	83366536	165	96472											
DCLK1	9201	broad.mit.edu	37	chr13	36686298	36686298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagttggggttcacattcTtggtgtactccagtttcttg	10	9	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:36686298T>C	uc001uvf.2	-	3	664	c.431A>G	c.(430-432)AAG>AGG	p.K144R		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	144					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			stomach(6)|ovary(2)|skin(1)	9		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)		GTTCACATTCTTGGTGTACTC	0.463													C	36686298	T	C	36686298	3	2	179	1	0	0	0	0	1	0	0	0	4291	1609	56	3	1822	3	DCLK1	13	36686298	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	4882956	36686298	78483580	166	96473											
OLFM4	10562	broad.mit.edu	37	chr13	53624669	53624669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaaccatctgcttctaaCgccttcatggtatgtggggt	9	9	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:53624669C>T	uc001vhl.2	+	5	1296	c.1296C>T	c.(1294-1296)AAC>AAT	p.N432N	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	432	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		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)		CTGCTTCTAACGCCTTCATGG	0.428													T	53624669	C	T	53624669	2	4	179	1	0	0	0	0	0	0	0	1	10855	535	19	1		1	OLFM4	13	53624669	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	16938371	53624669	61545209	167	96474											
EDNRB	1910	broad.mit.edu	37	chr13	78475270	78475270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcattagtgtataaaAaaatgcagtgatggccaatg	10	5	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:78475270A>G	uc001vko.2	-	4	1132	c.874T>C	c.(874-876)TTT>CTT	p.F292L	EDNRB_uc001vkq.1_Missense_Mutation_p.F292L|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.F292L|EDNRB_uc001vkp.1_Missense_Mutation_p.F375L	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	292	Helical; Name=5; (Potential).		F -> L (in WS4A).		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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGTGTATAAAAAAATGCAGTG	0.338													G	78475270	A	G	78475270	3	3	179	1	0	0	0	0	1	0	0	0	4920	14	1	3	591	3	EDNRB	13	78475270	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	24850601	78475270	36694608	168	96475											
EDNRB	1910	broad.mit.edu	37	chr13	78492440	78492440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcgatgggtccttggCacgggggaggggagatggtg	20	6	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:78492440C>T	uc001vko.2	-	1	527	c.269G>A	c.(268-270)TGC>TAC	p.C90Y	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.C90Y|EDNRB_uc010aez.1_Missense_Mutation_p.C90Y|EDNRB_uc001vkp.1_Missense_Mutation_p.C173Y|EDNRB_uc010afa.1_Missense_Mutation_p.C90Y	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	90	Extracellular (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGGTCCTTGGCACGGGGGAGG	0.592													T	78492440	C	T	78492440	3	4	179	1	0	0	0	0	1	0	0	0	4920	710	25	2	1208	2	EDNRB	13	78492440	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	17170	78492440	36677438	169	96476											
SLITRK6	84189	broad.mit.edu	37	chr13	86370123	86370123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatgtttggaggaagaCtctcaatagcattgtcattt	11	5	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr13:86370123C>T	uc001vll.1	-	2	980	c.521G>A	c.(520-522)AGT>AAT	p.S174N	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	174	LRR 4.|Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGAGGAAGACTCTCAATAGC	0.363													T	86370123	C	T	86370123	3	4	179	1	0	0	0	0	1	0	0	0	14747	565	20	4	2008	4	SLITRK6	13	86370123	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	7877683	86370123	28799755	170	96477											
PNN	5411	broad.mit.edu	37	chr14	39649857	39649857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagggtaaggtggctcagcGagaggaagagttggaggaga	20	3	1	4	rs144685853		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:39649857G>A	uc001wuw.3	+	9	1041	c.944G>A	c.(943-945)CGA>CAA	p.R315Q		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	315	Potential.|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			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTGGCTCAGCGAGAGGAAGAG	0.343													A	39649857	G	A	39649857	3	1	179	1	0	0	0	0	1	0	0	0	12160	1058	37	1	978	1	PNN	14	39649857	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08		39649857	67699683	171	96478											
MDGA2	161357	broad.mit.edu	37	chr14	47601018	47601018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcatagtcctgaggtcgaAgattctttagttttaagatc	9	6	1	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:47601018A>C	uc001wwj.3	-	5	813	c.617T>G	c.(616-618)CTT>CGT	p.L206R	MDGA2_uc001wwi.3_5'UTR|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	206	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CTGAGGTCGAAGATTCTTTAG	0.323													C	47601018	A	C	47601018	3	2	179	1	0	0	0	0	1	0	0	0	9407	72	3	5	2305	5	MDGA2	14	47601018	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	7951161	47601018	59748522	172	96479											
ESR2	2100	broad.mit.edu	37	chr14	64699876	64699876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgagactgtgggttctgGgagccctctttgcttttact	11	10	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:64699876G>A	uc001xha.1	-	9	2040	c.1572C>T	c.(1570-1572)TCC>TCT	p.S524S	ESR2_uc001xgu.2_Intron|ESR2_uc001xgv.2_Intron|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Intron|ESR2_uc001xgy.1_Intron|ESR2_uc001xgz.1_3'UTR|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.S433S	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	524	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGGGTTCTGGGAGCCCTCTT	0.612													A	64699876	G	A	64699876	2	1	179	1	0	0	0	0	0	0	0	1	5257	1219	43	4		4	ESR2	14	64699876	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	17098858	64699876	42649664	173	96480											
ZFP36L1	677	broad.mit.edu	37	chr14	69256768	69256769	+	Frame_Shift_Ins	INS	-	-	A													cagcggggcccgtaggggcaINSaaagccgatggtgtggaagg							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:69256767_69256768C>CA	uc021rve.1	-	2	800_801	c.706_707G>TG	c.(706-708)tgcfs	p.C236fs	ZFP36L1_uc001xki.2_Frame_Shift_Ins_p.C167fs|ZFP36L1_uc001xkh.2_Frame_Shift_Ins_p.C167fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	167					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C167fs*66(1)		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)		CCCGTAGGGGCAAAAGCCGATG	0.678											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	69256769	-	A	69256768	7	5	179	1	0	1	1	0	0	0	0	0	17643	130	5	0	521	0	ZFP36L1	14	69256768	Frame_Shift_Ins	INS	-	TCGA-CG-4466-01A-01D-1158-08	4556892	69256768	38092772	174	96481											
TRIP11	9321	broad.mit.edu	37	chr14	92471267	92471267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttcactaatctttccGtttcagctttagataaatca	3	10	4	1	rs147257207		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:92471267G>A	uc001xzy.2	-	11	3841	c.3053C>T	c.(3052-3054)ACG>ATG	p.T1018M	TRIP11_uc010auf.1_Missense_Mutation_p.T754M	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1018	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TAATCTTTCCGTTTCAGCTTT	0.299			T	PDGFRB	AML								A	92471267	G	A	92471267	3	1	179	1	0	0	0	0	1	0	0	0	16552	1145	40	1	2930	1	TRIP11	14	92471267	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	23214499	92471267	14878273	175	96482											
SERPINA3	12	broad.mit.edu	37	chr14	95089967	95089967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtccataaggctgtgcTtgatgtatttgaggagggca	16	5	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:95089967T>G	uc001ydp.2	+	5	1167	c.1088T>G	c.(1087-1089)CTT>CGT	p.L363R	SERPINA3_uc001ydo.3_Missense_Mutation_p.L388R|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.L363R|SERPINA3_uc001yds.2_Missense_Mutation_p.L363R|SERPINA3_uc010avg.2_Missense_Mutation_p.L363R	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	363				AVL -> VVS (in Ref. 1; AAA51543).	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			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AAGGCTGTGCTTGATGTATTT	0.522													G	95089967	T	G	95089967	3	3	179	1	0	0	0	0	1	0	0	0	14090	1609	56	5	1102	5	SERPINA3	14	95089967	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	2618700	95089967	12259573	176	96483											
BEGAIN	57596	broad.mit.edu	37	chr14	101005015	101005016	+	Frame_Shift_Ins	INS	-	-	C													cacttcggcctccagcggggINSccgccaccgcggccgtggcc							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:101005015_101005016insC	uc010txa.1	-	6	1218_1219	c.1072_1073insG	c.(1072-1074)GCCfs	p.A358fs	BEGAIN_uc001yhp.2_Frame_Shift_Ins_p.A294fs|BEGAIN_uc001yhq.2_Frame_Shift_Ins_p.A358fs	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	358						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CTCCAGCGGGGCCGCCACCGCG	0.718													C	101005016	-	C	101005015	7	5	179	1	0	1	1	0	0	0	0	0	1397	1203	42	0	712	0	BEGAIN	14	101005015	Frame_Shift_Ins	INS	-	TCGA-CG-4466-01A-01D-1158-08	5915048	101005015	6344525	177	96484											
PPP1R13B	23368	broad.mit.edu	37	chr14	104219502	104219502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acttcctgcttcttttcctgGaacatggcactgaacctttc	6	13	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr14:104219502G>T	uc001yof.1	-	7	946	c.663C>A	c.(661-663)TTC>TTA	p.F221L	PPP1R13B_uc001yog.1_Missense_Mutation_p.F88L	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	221	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTTTTCCTGGAACATGGCAC	0.348													T	104219502	G	T	104219502	3	4	179	1	0	0	0	0	1	0	0	0	12357	1165	41	5	2653	5	PPP1R13B	14	104219502	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	3214487	104219502	3130038	178	96485											
ATP10A	57194	broad.mit.edu	37	chr15	25928482	25928482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgggttggtcagcagcacaTtggctggcacatccctgtcc	13	13	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:25928482T>A	uc010ayu.2	-	17	3549	c.3443A>T	c.(3442-3444)AAT>ATT	p.N1148I		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1148	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CAGCAGCACATTGGCTGGCAC	0.562													A	25928482	T	A	25928482	3	1	179	1	0	0	0	0	1	0	0	0	1116	1493	52	5	1076	5	ATP10A	15	25928482	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08		25928482	76602910	179	96486											
TRPM1	4308	broad.mit.edu	37	chr15	31295126	31295126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcaggtcagacctgtcGattcccgcaagattttcaag	10	10	3	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:31295126G>A	uc001zfm.2	-	27	3839	c.3711C>T	c.(3709-3711)ATC>ATT	p.I1237I	TRPM1_uc010azy.2_Silent_p.I1144I|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1237	Potential.|Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		CAGACCTGTCGATTCCCGCAA	0.478													A	31295126	G	A	31295126	2	1	179	1	0	0	0	0	0	0	0	1	16582	1048	37	1		1	TRPM1	15	31295126	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	5366644	31295126	71236266	180	96487											
SPTBN5	51332	broad.mit.edu	37	chr15	42154357	42154357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgctcttctaacatacGccgggcttccacagggctgc	10	14	2	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:42154357G>A	uc001zos.2	-	44	7747	c.7414C>T	c.(7414-7416)CGT>TGT	p.R2472C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2507	Spectrin 22.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		TCTAACATACGCCGGGCTTCC	0.627													A	42154357	G	A	42154357	3	1	179	1	0	0	0	0	1	0	0	0	15121	1087	38	1	3605	1	SPTBN5	15	42154357	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	10859231	42154357	60377035	181	96488											
CDAN1	146059	broad.mit.edu	37	chr15	43019870	43019870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcatggtgctcacaggcGcgggagcagcccctccgctc	15	15	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:43019870G>A	uc001zql.2	-	23	3162	c.3045C>T	c.(3043-3045)CGC>CGT	p.R1015R	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.R341R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	1015						integral to membrane	protein binding			ovary(2)	2		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)		GCTCACAGGCGCGGGAGCAGC	0.647													A	43019870	G	A	43019870	2	1	179	1	0	0	0	0	0	0	0	1	3054	1074	38	1		1	CDAN1	15	43019870	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	865513	43019870	59511522	182	96489											
MAP1A	4130	broad.mit.edu	37	chr15	43815290	43815290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactttgaggagatgaagcGtgaggagagggctttgctgg	19	4	0	5			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:43815290G>A	uc001zrt.2	+	4	2086	c.1619G>A	c.(1618-1620)CGT>CAT	p.R540H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	540	9 X 3 AA repeats of K-K-[DE].|9.					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	GAGATGAAGCGTGAGGAGAGG	0.557													A	43815290	G	A	43815290	3	1	179	1	0	0	0	0	1	0	0	0	9227	1145	40	1	1621	1	MAP1A	15	43815290	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	795420	43815290	58716102	183	96490											
COPS2	9318	broad.mit.edu	37	chr15	49426269	49426269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtgtgtgccttttcaAattcaccttccctcaagtgc	6	12	4	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:49426269A>C	uc001zxf.2	-	8	831	c.752T>G	c.(751-753)TTT>TGT	p.F251C	COPS2_uc001zxh.2_Missense_Mutation_p.F258C|COPS2_uc010ufa.1_Missense_Mutation_p.F187C	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	251	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TGCCTTTTCAAATTCACCTTC	0.358													C	49426269	A	C	49426269	3	2	179	1	0	0	0	0	1	0	0	0	3733	14	1	5	603	5	COPS2	15	49426269	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	5610979	49426269	53105123	184	96491											
PARP6	56965	broad.mit.edu	37	chr15	72556894	72556894	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagaccaaagttcttActttttcaactgaagaccca	5	10	2	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:72556894A>G	uc002auc.2	-	7	854	c.395_splice	c.e7+1	p.K132_splice	PARP6_uc002aua.2_Splice_Site|PARP6_uc002aub.2_Splice_Site|PARP6_uc002aud.3_Splice_Site|PARP6_uc002auf.1_Splice_Site_p.K132_splice	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity				0						CAAAGTTCTTACTTTTTCAAC	0.448													G	72556894	A	G	72556894	5	3	179	1	0	0	0	0	0	0	1	0	11464	405	14	3	1563	3	PARP6	15	72556894	Splice_Site	SNP	A	TCGA-CG-4466-01A-01D-1158-08	23130625	72556894	29974498	185	96492											
ACAN	176	broad.mit.edu	37	chr15	89401172	89401172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttggcataactgatctgAgtggagaaacatctggggtc	12	8	2	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr15:89401172A>C	uc010upo.1	+	12	5730	c.5356A>C	c.(5356-5358)AGT>CGT	p.S1786R	ACAN_uc010upp.1_Missense_Mutation_p.S1786R|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1786					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AACTGATCTGAGTGGAGAAAC	0.527													C	89401172	A	C	89401172	3	2	179	1	0	0	0	0	1	0	0	0	117	304	11	5	5398	5	ACAN	15	89401172	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	16844278	89401172	13130220	186	96493											
ATF7IP2	80063	broad.mit.edu	37	chr16	10551372	10551372	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcagatcaaaataaGtctgtttctgaaaggtaggt	9	5	5	2	rs144631035	byFrequency	TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:10551372G>T	uc002czu.2	+	7	1565	c.1338G>T	c.(1336-1338)AAG>AAT	p.K446N	ATF7IP2_uc002czv.2_Missense_Mutation_p.K446N|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.K446N|ATF7IP2_uc010uyq.1_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						ATCAAAATAAGTCTGTTTCTG	0.284													T	10551372	G	T	10551372	3	4	179	1	0	0	0	0	1	0	0	0	1088	1020	36	5	1356	5	ATF7IP2	16	10551372	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08		10551372	79803381	187	96494											
KIAA0430	9665	broad.mit.edu	37	chr16	15705584	15705584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagacgtttggagcccattCcaagaatctgcaaagcaaat	9	10	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:15705584C>T	uc002ddr.2	-	18	3675	c.3482G>A	c.(3481-3483)GGA>GAA	p.G1161E	KIAA0430_uc002ddq.2_Missense_Mutation_p.G995E|KIAA0430_uc010uzv.1_Missense_Mutation_p.G1157E|KIAA0430_uc010uzw.1_Missense_Mutation_p.G1160E	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1160						peroxisome	nucleotide binding|RNA binding				0						GGAGCCCATTCCAAGAATCTG	0.488													T	15705584	C	T	15705584	3	4	179	1	0	0	0	0	1	0	0	0	8177	855	30	4	1786	4	KIAA0430	16	15705584	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	5154212	15705584	74649169	188	96495											
TPPP3	51673	broad.mit.edu	37	chr16	67424889	67424889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactttccgtcagccaccttGcagtccttgcacagcttggc	9	15	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:67424889G>A	uc002esz.2	-	1	961	c.126C>T	c.(124-126)TGC>TGT	p.C42C	TPPP3_uc002eta.2_Silent_p.C42C|TPPP3_uc002etb.2_Silent_p.C42C	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	42					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CAGCCACCTTGCAGTCCTTGC	0.572													A	67424889	G	A	67424889	2	1	179	1	0	0	0	0	0	0	0	1	16412	1311	46	2		2	TPPP3	16	67424889	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	51719305	67424889	22929864	189	96496											
WWOX	51741	broad.mit.edu	37	chr16	78466499	78466499	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccaagctctgcaacatcctCttctccaacgagctgcaccg	6	17	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr16:78466499C>G	uc002ffk.2	+	8	1031	c.906C>G	c.(904-906)CTC>CTG	p.L302L	WWOX_uc010vnk.1_Silent_p.L189L|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	302	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				0		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)		GCAACATCCTCTTCTCCAACG	0.532													G	78466499	C	G	78466499	2	3	179	1	0	0	0	0	0	0	0	1	17411	900	32	5		5	WWOX	16	78466499	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	11041610	78466499	11888254	190	96497											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-													cgcggacgcgggtgccgggcGggggtgtggaatcaacccac							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:7578475delG	uc002gim.2	-	5	649	c.455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGTGCCGGGCGGGGGTGTGGA	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7578475	G	-	7578475	7	5	179	1	0	1	0	1	0	0	0	0	16378	1116	39	0	843	0	TP53	17	7578475	Frame_Shift_Del	DEL	G	TCGA-CG-4466-01A-01D-1158-08		7578475	73616735	191	96498											
CORO6	84940	broad.mit.edu	37	chr17	27944531	27944531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgttaccgggtcccacaggCccagctctcgctggctcatg	12	16	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:27944531C>A	uc002hel.2	-	5	742	c.740G>T	c.(739-741)GGC>GTC	p.G247V	CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	247	WD 4.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GTCCCACAGGCCCAGCTCTCG	0.697													A	27944531	C	A	27944531	3	1	179	1	0	0	0	0	1	0	0	0	3758	739	26	5	702	5	CORO6	17	27944531	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	20366056	27944531	53250679	192	96499											
ERBB2	2064	broad.mit.edu	37	chr17	37882863	37882863	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagattccgggagttggtgtCtgaattctcccgcatggcca	12	10	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:37882863C>T	uc002hso.2	+	24	3159	c.2921C>T	c.(2920-2922)TCT>TTT	p.S974F	ERBB2_uc002hsm.2_Missense_Mutation_p.S944F|ERBB2_uc010cwa.2_Missense_Mutation_p.S959F|ERBB2_uc002hsp.2_Missense_Mutation_p.S777F|ERBB2_uc010cwb.2_Missense_Mutation_p.S974F|ERBB2_uc010wek.1_Missense_Mutation_p.S698F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	974	Cytoplasmic (Potential).|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			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	GAGTTGGTGTCTGAATTCTCC	0.607		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37882863	C	T	37882863	3	4	179	1	0	0	0	0	1	0	0	0	5206	913	32	4	3015	4	ERBB2	17	37882863	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	9938332	37882863	43312347	193	96500											
KRT28	162605	broad.mit.edu	37	chr17	38950093	38950093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttactttccatctccaTctatcaggcggcagtaggtc	7	12	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr17:38950093T>C	uc002hvh.1	-	6	1250	c.1184A>G	c.(1183-1185)GAT>GGT	p.D395G		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	395	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				TCCATCTCCATCTATCAGGCG	0.458													C	38950093	T	C	38950093	3	2	179	1	0	0	0	0	1	0	0	0	8465	1435	50	3	222	3	KRT28	17	38950093	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1067230	38950093	42245117	194	96501											
FHOD3	80206	broad.mit.edu	37	chr18	34349283	34349283	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccaatgtcacagatgaTgcagctgatgagatcatgga	11	9	2	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr18:34349283T>A	uc002kzt.1	+	23	4177	c.4080T>A	c.(4078-4080)GAT>GAA	p.D1360E	FHOD3_uc002kzs.1_Missense_Mutation_p.D1377E|FHOD3_uc010dmz.1_Missense_Mutation_p.D1092E|FHOD3_uc010dnb.1_Missense_Mutation_p.M298K	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1360	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCACAGATGATGCAGCTGATG	0.522													A	34349283	T	A	34349283	3	1	179	1	0	0	0	0	1	0	0	0	5883	1461	51	5	4225	5	FHOD3	18	34349283	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08		34349283	43727965	195	96502											
PIK3C3	5289	broad.mit.edu	37	chr18	39607420	39607420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttaaggtatgtgatagtgGaatgtgaagatcaagatact	11	2	1	4			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr18:39607420G>A	uc002lap.2	+	14	1556	c.1498G>A	c.(1498-1500)GAA>AAA	p.E500K	PIK3C3_uc010xcl.1_Missense_Mutation_p.E437K|PIK3C3_uc002laq.2_5'UTR	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	500					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			lung(8)|ovary(1)|breast(1)	10						TGTGATAGTGGAATGTGAAGA	0.353										TSP Lung(28;0.18)			A	39607420	G	A	39607420	3	1	179	1	0	0	0	0	1	0	0	0	11912	1175	41	4	1552	4	PIK3C3	18	39607420	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	5258137	39607420	38469828	196	96503											
DCC	1630	broad.mit.edu	37	chr18	50832036	50832036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacacagaaagacgacccGcaggggtgagatggaaacac	13	10	0	3			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr18:50832036G>A	uc002lfe.1	+	13	2587	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	DCC_uc010xdr.1_Missense_Mutation_p.R515H|DCC_uc010dpf.1_Missense_Mutation_p.R322H	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	667	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGACGACCCGCAGGGGTGAG	0.423													A	50832036	G	A	50832036	3	1	179	1	0	0	0	0	1	0	0	0	4282	1087	38	1	2050	1	DCC	18	50832036	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	11224616	50832036	27245212	197	96504											
MUC16	94025	broad.mit.edu	37	chr19	9089223	9089223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaagtttcctctgtttcTtctccactagtaaatagatg	6	9	3	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:9089223T>G	uc002mkp.2	-	1	2796	c.2592A>C	c.(2590-2592)GAA>GAC	p.E864D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	864	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTCTGTTTCTTCTCCACTAG	0.478													G	9089223	T	G	9089223	3	3	179	1	0	0	0	0	1	0	0	0	9973	1606	56	5	41267	5	MUC16	19	9089223	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08		9089223	50039760	198	96505											
ZNF559	84527	broad.mit.edu	37	chr19	9449168	9449168	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttatttcttcttcttaAgatcatctttctcaagatgt	4	7	6	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:9449168A>G	uc002mlg.2	+	4	592	c.-55_splice	c.e4-2		ZNF559_uc002mlf.2_Splice_Site|ZNF559_uc010dwl.1_Splice_Site|ZNF559_uc010xkn.1_Intron|ZNF559_uc010dwm.1_Splice_Site|ZNF559_uc002mle.3_Splice_Site_p.D46_splice|ZNF559_uc010dwk.1_Splice_Site|ZNF559_uc002mld.2_Splice_Site_p.D46_splice|ZNF559_uc010dwo.1_Splice_Site_p.D10_splice|ZNF559_uc002mlh.1_Splice_Site|ZNF177_uc002mli.2_Splice_Site|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTCTTCTTAAGATCATCTTT	0.408													G	9449168	A	G	9449168	5	3	179	1	0	0	0	0	0	0	1	0	17987	86	3	3		3	ZNF559	19	9449168	Splice_Site	SNP	A	TCGA-CG-4466-01A-01D-1158-08	359945	9449168	49679815	199	96506											
ZNF791	163049	broad.mit.edu	37	chr19	12738763	12738763	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaggagtgtgagaaagcCtttagttatctcaaatcctt	9	6	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:12738763C>G	uc002mua.2	+	4	582	c.420C>G	c.(418-420)GCC>GCG	p.A140A	ZNF791_uc010xml.1_Silent_p.A108A|ZNF791_uc010dyu.1_Silent_p.A31A|ZNF791_uc010xmm.1_Silent_p.A31A	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	140	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GTGAGAAAGCCTTTAGTTATC	0.393													G	12738763	C	G	12738763	2	3	179	1	0	0	0	0	0	0	0	1	18160	668	24	5		5	ZNF791	19	12738763	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	3289595	12738763	46390220	200	96507											
ZNF536	9745	broad.mit.edu	37	chr19	30934928	30934928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacatgcgcacgcacacGggcgagaagcccttcaagtg	12	14	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:30934928G>A	uc002nsu.1	+	2	597	c.459G>A	c.(457-459)ACG>ACA	p.T153T	ZNF536_uc010edd.1_Silent_p.T153T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCACGCACACGGGCGAGAAGC	0.642													A	30934928	G	A	30934928	2	1	179	1	0	0	0	0	0	0	0	1	17971	1103	39	1		1	ZNF536	19	30934928	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	18196165	30934928	28194055	201	96508											
RYR1	6261	broad.mit.edu	37	chr19	39066574	39066574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtctttccctagcaaCtactgggacaagtttgtcaa	9	10	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:39066574C>T	uc002oit.2	+	97	14275	c.14145C>T	c.(14143-14145)AAC>AAT	p.N4715N	RYR1_uc002oiu.2_Silent_p.N4710N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4715					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCTAGCAACTACTGGGACA	0.562													T	39066574	C	T	39066574	2	4	179	1	0	0	0	0	0	0	0	1	13768	564	20	4		4	RYR1	19	39066574	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	8131646	39066574	20062409	202	96509											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45668181	45668181	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaggtctttgcacaagaacTtgaggacatccagctcctcc	8	13	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:45668181T>A	uc002paw.2	-	3	219	c.200A>T	c.(199-201)AAG>ATG	p.K67M	TRAPPC6A_uc002pav.2_Missense_Mutation_p.K81M			O75865	TPC6A_HUMAN	SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a;	67					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		GCACAAGAACTTGAGGACATC	0.657													A	45668181	T	A	45668181	3	1	179	1	0	0	0	0	1	0	0	0	16460	1609	56	5	295	5	TRAPPC6A	19	45668181	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	6601607	45668181	13460802	203	96510											
NLRP2	55655	broad.mit.edu	37	chr19	55494614	55494614	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgccctgttctacacCctggagaaggaggaggaaga	12	11	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr19:55494614C>A	uc002qij.2	+	6	1634	c.1548C>A	c.(1546-1548)ACC>ACA	p.T516T	NLRP2_uc010yfp.1_Silent_p.T493T|NLRP2_uc010esn.2_Silent_p.T492T|NLRP2_uc010eso.2_Silent_p.T513T|NLRP2_uc010esp.2_Silent_p.T494T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	516	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTTCTACACCCTGGAGAAGG	0.572													A	55494614	C	A	55494614	2	1	179	1	0	0	0	0	0	0	0	1	10477	610	22	5		5	NLRP2	19	55494614	Silent	SNP	C	TCGA-CG-4466-01A-01D-1158-08	9826433	55494614	3634369	204	96511											
SLC4A11	83959	broad.mit.edu	37	chr20	3214855	3214855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catggtccgcagcacgttatCcagggaggtggccgtctcgt	14	12	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:3214855C>A	uc002wig.2	-	4	493	c.445G>T	c.(445-447)GAT>TAT	p.D149Y	SLC4A11_uc010zqe.1_Missense_Mutation_p.D176Y|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.D133Y	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	149	Cytoplasmic (Potential).				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			ovary(1)	1						AGCACGTTATCCAGGGAGGTG	0.592													A	3214855	C	A	3214855	3	1	179	1	0	0	0	0	1	0	0	0	14652	855	30	5	2294	5	SLC4A11	20	3214855	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08		3214855	59810665	205	96512											
FITM2	128486	broad.mit.edu	37	chr20	42935377	42935377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtaccagctcagcaaaCcaaacaaggtgccaaacacc	6	16	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:42935377C>A	uc002xlr.1	-	2	778	c.677G>T	c.(676-678)GGT>GTT	p.G226V		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	226	Helical; (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						GCTCAGCAAACCAAACAAGGT	0.483													A	42935377	C	A	42935377	3	1	179	1	0	0	0	0	1	0	0	0	5899	507	18	5	115	5	FITM2	20	42935377	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	39720522	42935377	20090143	206	96513											
KCNK15	60598	broad.mit.edu	37	chr20	43379120	43379120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtggcactgcagagcggcGaggcgctgcagaggaagctc	17	11	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:43379120G>A	uc002xmr.2	+	2	698	c.634G>A	c.(634-636)GAG>AAG	p.E212K		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	212						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				GCAGAGCGGCGAGGCGCTGCA	0.622													A	43379120	G	A	43379120	3	1	179	1	0	0	0	0	1	0	0	0	8062	1059	37	1	640	1	KCNK15	20	43379120	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	443743	43379120	19646400	207	96514											
SLC12A5	57468	broad.mit.edu	37	chr20	44670087	44670087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccttttctgctcctctcGcttcctcaacgccacctgtg	8	17	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:44670087G>A	uc010zxl.1	+	8	1119	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.R325H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	348	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCTCCTCTCGCTTCCTCAAC	0.567													A	44670087	G	A	44670087	3	1	179	1	0	0	0	0	1	0	0	0	14386	1087	38	1	1129	1	SLC12A5	20	44670087	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	1290967	44670087	18355433	208	96515											
SALL4	57167	broad.mit.edu	37	chr20	50408026	50408026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctgaggaagcaaagcGctcgggaggcgggacatgac	19	9	0	2	rs137963401		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:50408026G>A	uc002xwh.3	-	2	1097	c.996C>T	c.(994-996)AGC>AGT	p.S332S	SALL4_uc010gii.2_Silent_p.S332S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	332					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAAGCAAAGCGCTCGGGAGGC	0.642													A	50408026	G	A	50408026	2	1	179	1	0	0	0	0	0	0	0	1	13813	1078	38	1		1	SALL4	20	50408026	Silent	SNP	G	TCGA-CG-4466-01A-01D-1158-08	5737939	50408026	12617494	209	96516											
GMEB2	26205	broad.mit.edu	37	chr20	62221495	62221495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcaatggtggccgtgtGctcctcaggcccgggggcag	15	14	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr20:62221495G>A	uc002yfp.1	-	9	2019	c.1540C>T	c.(1540-1542)CAC>TAC	p.H514Y	GMEB2_uc002yfo.1_Missense_Mutation_p.H436Y|GMEB2_uc002yfq.1_Missense_Mutation_p.H514Y	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	514					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	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)			GTGGCCGTGTGCTCCTCAGGC	0.701													A	62221495	G	A	62221495	3	1	179	1	0	0	0	0	1	0	0	0	6488	1319	46	2	56	2	GMEB2	20	62221495	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	11813469	62221495	804025	210	96517											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306878	28306878	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccttccaccgcaggcagcttCttggtcagacagaccatctg	9	15	3	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr21:28306878C>G	uc002ymg.2	-	4	2325	c.1596G>C	c.(1594-1596)AAG>AAC	p.K532N		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	532	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CAGGCAGCTTCTTGGTCAGAC	0.542													G	28306878	C	G	28306878	3	3	179	1	0	0	0	0	1	0	0	0	269	912	32	5	1216	5	ADAMTS5	21	28306878	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08		28306878	19823017	211	96518											
MYH9	4627	broad.mit.edu	37	chr22	36698672	36698672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtaggcagcgcagttcCgctggaggaccttcatggcg	15	11	2	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:36698672C>T	uc003apg.2	-	20	2672	c.2441G>A	c.(2440-2442)CGG>CAG	p.R814Q	MYH9_uc003aph.1_Missense_Mutation_p.R678Q	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	814					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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCGCAGTTCCGCTGGAGGAC	0.532			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36698672	C	T	36698672	3	4	179	1	0	0	0	0	1	0	0	0	10042	652	23	1	3529	1	MYH9	22	36698672	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08		36698672	14605894	212	96519											
SMCR7L	54471	broad.mit.edu	37	chr22	39909637	39909637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcttcttcctggtgcGtcgtgagaatccagagtact	11	12	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:39909637G>C	uc003axx.2	+	6	1199	c.701G>C	c.(700-702)CGT>CCT	p.R234P	SMCR7L_uc003axw.2_Missense_Mutation_p.R234P|SMCR7L_uc010gxz.1_Missense_Mutation_p.R56P|SMCR7L_uc003axy.2_Missense_Mutation_p.R56P	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	234						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					TTCCTGGTGCGTCGTGAGAAT	0.522													C	39909637	G	C	39909637	3	2	179	1	0	0	0	0	1	0	0	0	14791	1145	40	5	715	5	SMCR7L	22	39909637	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	3210965	39909637	11394929	213	96520											
CACNA1I	8911	broad.mit.edu	37	chr22	40055853	40055853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtggagggcttccaggCggaggtgactgtggtcttgg	19	8	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:40055853C>T	uc003ayc.2	+	14	2600	c.2600C>T	c.(2599-2601)GCG>GTG	p.A867V	CACNA1I_uc003ayd.2_Missense_Mutation_p.A832V|CACNA1I_uc003aye.2_Missense_Mutation_p.A782V|CACNA1I_uc003ayf.2_Missense_Mutation_p.A747V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	867	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCTTCCAGGCGGAGGTGACT	0.607													T	40055853	C	T	40055853	3	4	179	1	0	0	0	0	1	0	0	0	2546	768	27	1	2654	1	CACNA1I	22	40055853	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	146216	40055853	11248713	214	96521											
EFCAB6	64800	broad.mit.edu	37	chr22	44168845	44168845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgattcttctcagttcaCtttttgacacagtcaagttc	6	9	4	3	rs139182657	byFrequency	TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:44168845C>T	uc003bdy.1	-	4	493	c.278G>A	c.(277-279)AGT>AAT	p.S93N	EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.S90N|EFCAB6_uc003beb.3_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	93	EF-hand 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTCAGTTCACTTTTTGACAC	0.423													T	44168845	C	T	44168845	3	4	179	1	0	0	0	0	1	0	0	0	4939	565	20	4	4343	4	EFCAB6	22	44168845	Missense_Mutation	SNP	C	TCGA-CG-4466-01A-01D-1158-08	4112992	44168845	7135721	215	96522											
ZBED4	9889	broad.mit.edu	37	chr22	50278064	50278064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagagaagaagccctgGtggggtcgtctccccacctc	14	14	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:50278064G>A	uc003bix.2	+	2	1224	c.754G>A	c.(754-756)GTG>ATG	p.V252M		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	252						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		AGAAGCCCTGGTGGGGTCGTC	0.537													A	50278064	G	A	50278064	3	1	179	1	0	0	0	0	1	0	0	0	17517	1261	44	4	756	4	ZBED4	22	50278064	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	6109219	50278064	1026502	216	96523											
NCAPH2	29781	broad.mit.edu	37	chr22	50956614	50956614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcaggatgaacacgtgcGttccccaccccagaggggcc	11	14	1	2	rs141520277		TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chr22:50956614G>A	uc003blr.3	+	7	675	c.553G>A	c.(553-555)GTT>ATT	p.V185I	NCAPH2_uc003blq.3_Missense_Mutation_p.V185I|NCAPH2_uc003blv.2_Missense_Mutation_p.V185I|NCAPH2_uc010hbb.2_Missense_Mutation_p.V36I|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.V185I|NCAPH2_uc003bly.3_RNA	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	185					chromosome condensation	chromosome|nucleus				ovary(1)|skin(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;0.212)		GAACACGTGCGTTCCCCACCC	0.637													A	50956614	G	A	50956614	3	1	179	1	0	0	0	0	1	0	0	0	10210	1145	40	1	579	1	NCAPH2	22	50956614	Missense_Mutation	SNP	G	TCGA-CG-4466-01A-01D-1158-08	678550	50956614	347952	217	96524											
MXRA5	25878	broad.mit.edu	37	chrX	3239959	3239959	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctggagaagggctgggcTtggatccggacgctcttgag	16	8	2	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:3239959T>G	uc004crg.3	-	5	3924	c.3767A>C	c.(3766-3768)AAG>ACG	p.K1256T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1256						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGGCTGGGCTTGGATCCGGA	0.468													G	3239959	T	G	3239959	3	3	179	1	0	0	0	0	1	0	0	0	10003	1609	56	5	4731	5	MXRA5	23	3239959	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08		3239959	152030601	218	96525											
DACH2	117154	broad.mit.edu	37	chrX	85950029	85950029	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgaatatttttcaggtggaAgtgaatcctcctgggataaa	10	5	1	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:85950029A>T	uc004eew.2	+	5	948	c.778A>T	c.(778-780)AGT>TGT	p.S260C	DACH2_uc004eex.2_Missense_Mutation_p.S247C|DACH2_uc010nmq.2_Missense_Mutation_p.S126C|DACH2_uc011mra.1_Missense_Mutation_p.S93C|DACH2_uc010nmr.2_Missense_Mutation_p.S41C	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TTCAGGTGGAAGTGAATCCTC	0.413													T	85950029	A	T	85950029	3	4	179	1	0	0	0	0	1	0	0	0	4221	72	3	5	796	5	DACH2	23	85950029	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	82710070	85950029	69320531	219	96526											
SERPINA7	6906	broad.mit.edu	37	chrX	105281009	105281009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggattgtagcatgaAgcccaagtaccaagagaacc	10	10	0	2			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:105281009A>C	uc004eme.1	-	1	57	c.41T>G	c.(40-42)CTT>CGT	p.L14R	SERPINA7_uc010npd.2_Missense_Mutation_p.L14R|SERPINA7_uc010npe.1_Missense_Mutation_p.L14R	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	14					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGTAGCATGAAGCCCAAGTAC	0.438													C	105281009	A	C	105281009	3	2	179	1	0	0	0	0	1	0	0	0	14094	72	3	5	1222	5	SERPINA7	23	105281009	Missense_Mutation	SNP	A	TCGA-CG-4466-01A-01D-1158-08	19330980	105281009	49989551	220	96527											
RGAG1	57529	broad.mit.edu	37	chrX	109694940	109694940	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcccacccaaacgatgccAgccccaggctctggggcgat	11	16	1	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:109694940A>G	uc004eor.1	+	3	1341	c.1095A>G	c.(1093-1095)CCA>CCG	p.P365P	RGAG1_uc011msr.1_Silent_p.P365P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	365										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AAACGATGCCAGCCCCAGGCT	0.537													G	109694940	A	G	109694940	2	3	179	1	0	0	0	0	0	0	0	1	13274	175	7	3		3	RGAG1	23	109694940	Silent	SNP	A	TCGA-CG-4466-01A-01D-1158-08	4413931	109694940	45575620	221	96528											
UBE2NL	389898	broad.mit.edu	37	chrX	142967261	142967261	+	Frame_Shift_Del	DEL	T	T	-													gcgtttgctggcagagccagTtcctggcatcaaagcagaac							TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:142967261delT	uc004fca.2	+	1	89	c.59delT	c.(58-60)GTTfs	p.V20fs		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	20							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGCCAGTTCCTGGCATC	0.512													-	142967261	T	-	142967261	7	5	179	1	0	1	0	1	0	0	0	0	16864	1725	60	0	61	0	UBE2NL	23	142967261	Frame_Shift_Del	DEL	T	TCGA-CG-4466-01A-01D-1158-08	33272321	142967261	12303299	222	96529											
MAGEA11	4110	broad.mit.edu	37	chrX	148798201	148798201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagggagcacttcctctTtggggagcccaagaggctcc	14	11	1	1			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:148798201T>C	uc004fdq.2	+	5	1157	c.1055T>C	c.(1054-1056)TTT>TCT	p.F352S	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.F323S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	352	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACTTCCTCTTTGGGGAGCCC	0.542													C	148798201	T	C	148798201	3	2	179	1	0	0	0	0	1	0	0	0	9165	1841	64	3	1082	3	MAGEA11	23	148798201	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	5830940	148798201	6472359	223	96530											
GPR50	9248	broad.mit.edu	37	chrX	150348896	150348896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctttatcttgcagcctacTtcatagcctacttcaacagc	6	13	3	0			TCGA-CG-4466-01A-01D-1158-08	TCGA-CG-4466-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f816b5c3-5ada-4781-93c3-b75b2e6850f7	fb3fa35c-47fb-401e-b532-37d4b027f5da	g.chrX:150348896T>G	uc010ntg.1	+	2	976	c.841T>G	c.(841-843)TTC>GTC	p.F281V	uc004fes.1_5'Flank|GPR50_uc011myc.1_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	281	Helical; Name=7; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCCTACTTCATAGCCTA	0.517													G	150348896	T	G	150348896	3	3	179	1	0	0	0	0	1	0	0	0	6697	1609	56	5	847	5	GPR50	23	150348896	Missense_Mutation	SNP	T	TCGA-CG-4466-01A-01D-1158-08	1550695	150348896	4921664	224	96531											
C1orf174	339448	broad.mit.edu	37	chr1	3806547	3806547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttctgcatcatcgtcgtCgtcatcatcatcatctttgg	6	12	7	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:3806547C>T	uc001alf.2	-	4	816	c.709G>A	c.(709-711)GAC>AAC	p.D237N	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	237	Poly-Asp.										0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		tcatcgtcgtcgtcatcatca	0.328													T	3806547	C	T	3806547	3	4	180	1	0	0	0	0	1	0	0	0	2015	884	31	1	26	1	C1orf174	1	3806547	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08		3806547	245444074	1	96532											
VPS13D	55187	broad.mit.edu	37	chr1	12416555	12416555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtcctctcttattctgCtatgctgacaaagagcagcc	8	12	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:12416555C>T	uc001atv.2	+	49	10113	c.9972C>T	c.(9970-9972)TGC>TGT	p.C3324C	VPS13D_uc001atw.2_Silent_p.C3299C|VPS13D_uc001atx.2_Silent_p.C2511C	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3323					protein localization					ovary(4)|pancreas(1)	5	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)		TCTTATTCTGCTATGCTGACA	0.473													T	12416555	C	T	12416555	2	4	180	1	0	0	0	0	0	0	0	1	17189	805	28	2		2	VPS13D	1	12416555	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	8610008	12416555	236834066	2	96533											
TCEB3	6924	broad.mit.edu	37	chr1	24082799	24082799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctttgtcaactctgtgGccaagccacctcgtgacgtc	10	14	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:24082799G>A	uc001bho.2	+	9	2146	c.2086G>A	c.(2086-2088)GCC>ACC	p.A696T		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	696	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			ovary(1)	1		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)		CAACTCTGTGGCCAAGCCACC	0.483													A	24082799	G	A	24082799	3	1	180	1	0	0	0	0	1	0	0	0	15678	1203	42	2	2120	2	TCEB3	1	24082799	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	11666244	24082799	225167822	3	96534											
ARID1A	8289	broad.mit.edu	37	chr1	27106412	27106412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaacacccagggctgcTgctcatcctgggcaagctga	11	14	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:27106412T>G	uc001bmv.1	+	20	6396	c.6023T>G	c.(6022-6024)CTG>CGG	p.L2008R	ARID1A_uc001bmu.1_Missense_Mutation_p.L1791R|ARID1A_uc001bmx.1_Missense_Mutation_p.L854R|ARID1A_uc009vsm.1_Missense_Mutation_p.L336R|ARID1A_uc009vsn.1_Missense_Mutation_p.L250R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2008					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CCAGGGCTGCTGCTCATCCTG	0.537			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								G	27106412	T	G	27106412	3	3	180	1	0	0	0	0	1	0	0	0	913	1580	55	5	6101	5	ARID1A	1	27106412	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	3023613	27106412	222144209	4	96535											
ATPIF1	93974	broad.mit.edu	37	chr1	28562926	28562926	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggaagccggtggggccttcGgaaagagagagcaggctgaa	19	7	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:28562926G>C	uc001bpq.2	+	2	226	c.142G>C	c.(142-144)GGA>CGA	p.G48R	ATPIF1_uc001bpp.2_Missense_Mutation_p.G48R|ATPIF1_uc001bpr.2_Missense_Mutation_p.G48R	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1 isoform 1 precursor	48					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				0		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)		TGGGGCCTTCGGAAAGAGAGA	0.587													C	28562926	G	C	28562926	3	2	180	1	0	0	0	0	1	0	0	0	1203	1117	39	5	148	5	ATPIF1	1	28562926	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1456514	28562926	220687695	5	96536											
HEYL	26508	broad.mit.edu	37	chr1	40092691	40092691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgggcgaaggctccatctCggctgcgtagctgttgaggt	16	10	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:40092691C>T	uc001cdp.2	-	5	526	c.475G>A	c.(475-477)GAG>AAG	p.E159K	HEYL_uc010oiw.1_Missense_Mutation_p.E131K	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	159					multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	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)			GGCTCCATCTCGGCTGCGTAG	0.642													T	40092691	C	T	40092691	3	4	180	1	0	0	0	0	1	0	0	0	7080	893	31	1	515	1	HEYL	1	40092691	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	11529765	40092691	209157930	6	96537											
ERMAP	114625	broad.mit.edu	37	chr1	43296699	43296699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactctgcagatccttgacGtgcgccttgaggaccaaggg	12	12	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:43296699G>A	uc001cic.1	+	4	616	c.346G>A	c.(346-348)GTG>ATG	p.V116M	ERMAP_uc010ojw.1_Missense_Mutation_p.V177M|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.V116M|ERMAP_uc001cif.1_Missense_Mutation_p.V26M	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	116	Ig-like V-type.|Extracellular (Potential).		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATCCTTGACGTGCGCCTTGA	0.517													A	43296699	G	A	43296699	3	1	180	1	0	0	0	0	1	0	0	0	5234	1145	40	1	352	1	ERMAP	1	43296699	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	3204008	43296699	205953922	7	96538											
CYP4X1	260293	broad.mit.edu	37	chr1	47512210	47512210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgattgattcctgcagtccCgtccatttccagagatctca	7	14	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:47512210C>T	uc001cqt.2	+	9	1395	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L	CYP4X1_uc001cqr.2_Missense_Mutation_p.P381L|CYP4X1_uc001cqs.2_Missense_Mutation_p.P317L	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	382						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						CCTGCAGTCCCGTCCATTTCC	0.512													T	47512210	C	T	47512210	3	4	180	1	0	0	0	0	1	0	0	0	4193	652	23	1	1179	1	CYP4X1	1	47512210	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4215511	47512210	201738411	8	96539											
C8B	732	broad.mit.edu	37	chr1	57420479	57420479	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtccccattgcaaagaAgtctgcggtttacacacctt	7	12	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:57420479A>C	uc001cyp.2	-	4	480	c.413T>G	c.(412-414)CTT>CGT	p.L138R	C8B_uc010oon.1_Missense_Mutation_p.L76R|C8B_uc010ooo.1_Missense_Mutation_p.L86R	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	138	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ATTGCAAAGAAGTCTGCGGTT	0.423													C	57420479	A	C	57420479	3	2	180	1	0	0	0	0	1	0	0	0	2417	72	3	5	1398	5	C8B	1	57420479	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	9908269	57420479	191830142	9	96540											
PGM1	5236	broad.mit.edu	37	chr1	64114271	64114271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacccgcaagcagagtgtgGaggacattctcaaagatcat	10	11	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:64114271G>A	uc001dbh.2	+	8	1441	c.1228G>A	c.(1228-1230)GAG>AAG	p.E410K	PGM1_uc010ooy.1_Missense_Mutation_p.E213K|PGM1_uc010ooz.1_Missense_Mutation_p.E428K	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	410					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						GCAGAGTGTGGAGGACATTCT	0.562													A	64114271	G	A	64114271	3	1	180	1	0	0	0	0	1	0	0	0	11797	1175	41	4	1562	4	PGM1	1	64114271	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	6693792	64114271	185136350	10	96541											
ELTD1	64123	broad.mit.edu	37	chr1	79383608	79383608	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaagatataaaaattcttgTgcaaaaatcccttgttgtag	6	6	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:79383608T>A	uc001diq.3	-	11	1745	c.1589A>T	c.(1588-1590)CAC>CTC	p.H530L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	530	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAAATTCTTGTGCAAAAATCC	0.398													A	79383608	T	A	79383608	3	1	180	1	0	0	0	0	1	0	0	0	5084	1696	59	5	503	5	ELTD1	1	79383608	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	15269337	79383608	169867013	11	96542											
LPHN2	23266	broad.mit.edu	37	chr1	82456582	82456582	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatacaagcatgcccaatcTtagagactctccctatccgg	6	13	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:82456582T>G	uc001dit.3	+	21	4146	c.3965T>G	c.(3964-3966)CTT>CGT	p.L1322R	LPHN2_uc001dis.2_Missense_Mutation_p.L302R|LPHN2_uc001diu.2_Missense_Mutation_p.L1322R|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.L949R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1378	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGCCCAATCTTAGAGACTCT	0.468													G	82456582	T	G	82456582	3	3	180	1	0	0	0	0	1	0	0	0	8916	1609	56	5	4039	5	LPHN2	1	82456582	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	3072974	82456582	166794039	12	96543											
CDC14A	8556	broad.mit.edu	37	chr1	100964602	100964602	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcacagccagcccgttTaccaacctcttgaatggcag	9	14	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:100964602T>G	uc001dtg.3	+	15	2027	c.1539T>G	c.(1537-1539)TTT>TTG	p.F513L	CDC14A_uc010oui.1_Missense_Mutation_p.F455L|CDC14A_uc001dtf.2_Missense_Mutation_p.F513L|CDC14A_uc009wed.1_Missense_Mutation_p.F220L|CDC14A_uc009wee.2_Missense_Mutation_p.F513L	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	513					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		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)		CCAGCCCGTTTACCAACCTCT	0.502													G	100964602	T	G	100964602	3	3	180	1	0	0	0	0	1	0	0	0	3056	1751	61	5	1612	5	CDC14A	1	100964602	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	18508020	100964602	148286019	13	96544											
COL11A1	1301	broad.mit.edu	37	chr1	103449730	103449730	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatatcctggtaatccTggaactccaagttttcccta	7	12	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:103449730T>C	uc001dul.2	-	31	2838	c.2520A>G	c.(2518-2520)CCA>CCG	p.P840P	COL11A1_uc001duk.2_Missense_Mutation_p.Q31R|COL11A1_uc001dum.2_Silent_p.P852P|COL11A1_uc001dun.2_Silent_p.P801P|COL11A1_uc009weh.2_Silent_p.P724P	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	840	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CTGGTAATCCTGGAACTCCAA	0.209													C	103449730	T	C	103449730	2	2	180	1	0	0	0	0	0	0	0	1	3667	1567	55	3		3	COL11A1	1	103449730	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	2485128	103449730	145800891	14	96545											
LRIG2	9860	broad.mit.edu	37	chr1	113657272	113657272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaatatacctgcattatGtctaacacccttgggacaga	9	9	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:113657272G>A	uc001edf.1	+	15	2502	c.2304G>A	c.(2302-2304)ATG>ATA	p.M768I	LRIG2_uc009wgn.1_Missense_Mutation_p.M665I	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	768	Ig-like C2-type 3.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	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)		CCTGCATTATGTCTAACACCC	0.458													A	113657272	G	A	113657272	3	1	180	1	0	0	0	0	1	0	0	0	8945	1377	48	4	2362	4	LRIG2	1	113657272	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	10207542	113657272	135593349	15	96546											
DENND2C	163259	broad.mit.edu	37	chr1	115151320	115151320	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaccttgccagggaatTgttgtatgacctggggaata	12	8	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:115151320T>A	uc001efd.1	-	10	2246	c.1544A>T	c.(1543-1545)CAA>CTA	p.Q515L	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.Q458L	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	515	UDENN.									skin(3)	3	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)		GCCAGGGAATTGTTGTATGAC	0.433													A	115151320	T	A	115151320	3	1	180	1	0	0	0	0	1	0	0	0	4430	1812	63	5	1290	5	DENND2C	1	115151320	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1494048	115151320	134099301	16	96547											
NGF	4803	broad.mit.edu	37	chr1	115829283	115829283	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgcgaagggcagtgTcaagggaatgctgaagttta	16	6	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:115829283T>G	uc001efu.1	-	3	303	c.134A>C	c.(133-135)GAC>GCC	p.D45A		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	45					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			upper_aerodigestive_tract(2)	2	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)	AAGGGCAGTGTCAAGGGAATG	0.602													G	115829283	T	G	115829283	3	3	180	1	0	0	0	0	1	0	0	0	10395	1667	58	5	595	5	NGF	1	115829283	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	677963	115829283	133421338	17	96548											
SETDB1	9869	broad.mit.edu	37	chr1	150936730	150936730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcttcagaagaatcCgggctgggacagaacttact	9	11	3	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:150936730C>T	uc001evu.2	+	22	3956	c.3766C>T	c.(3766-3768)CGG>TGG	p.R1256W	SETDB1_uc001evv.2_Missense_Mutation_p.R1255W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1256	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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			CAGAAGAATCCGGGCTGGGAC	0.507													T	150936730	C	T	150936730	3	4	180	1	0	0	0	0	1	0	0	0	14138	643	23	1	3848	1	SETDB1	1	150936730	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	35107447	150936730	98313891	18	96549											
SPTA1	6708	broad.mit.edu	37	chr1	158604450	158604450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtattctagggattcTtccaacttaagtcctctata	6	9	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:158604450T>C	uc001fst.1	-	39	5647	c.5448A>G	c.(5446-5448)GAA>GAG	p.E1816E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1816	Spectrin 17.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTAGGGATTCTTCCAACTTAA	0.453													C	158604450	T	C	158604450	2	2	180	1	0	0	0	0	0	0	0	1	15115	1606	56	3		3	SPTA1	1	158604450	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	7667720	158604450	90646171	19	96550											
SPTA1	6708	broad.mit.edu	37	chr1	158636127	158636127	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacgagcagccacagccgaCtccaggaggccgtgtttcct	12	14	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:158636127C>G	uc001fst.1	-	16	2398	c.2199G>C	c.(2197-2199)GAG>GAC	p.E733D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	733	Spectrin 8.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCACAGCCGACTCCAGGAGGC	0.512													G	158636127	C	G	158636127	3	3	180	1	0	0	0	0	1	0	0	0	15115	564	20	5	5208	5	SPTA1	1	158636127	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	31677	158636127	90614494	20	96551											
DUSP27	92235	broad.mit.edu	37	chr1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacggcaggaggcgccGcgcagactcgatgtcctcgg	16	14	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:167095768G>A	uc001geb.1	+	5	1400	c.1400G>A	c.(1399-1401)CGC>CAC	p.R467H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	467					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						AGGAGGCGCCGCGCAGACTCG	0.652													A	167095768	G	A	167095768	3	1	180	1	0	0	0	0	1	0	0	0	4824	1087	38	1	1418	1	DUSP27	1	167095768	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	8459641	167095768	82154853	21	96552											
F5	2153	broad.mit.edu	37	chr1	169524509	169524509	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacctcttcatgtgccgcctCtgctcacgagttattttctt	6	14	5	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:169524509C>A	uc001ggg.1	-	7	1174	c.1029G>T	c.(1027-1029)CAG>CAT	p.Q343H	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	343					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTGCCGCCTCTGCTCACGAG	0.438													A	169524509	C	A	169524509	3	1	180	1	0	0	0	0	1	0	0	0	5348	912	32	5	5721	5	F5	1	169524509	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2428741	169524509	79726112	22	96553											
C1orf125	126859	broad.mit.edu	37	chr1	179414226	179414226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttgggatatttaatcGgcataaaagtttggaggggg	16	3	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:179414226G>A	uc001gmo.2	+	16	1812	c.1685G>A	c.(1684-1686)CGG>CAG	p.R562Q	C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmn.1_Missense_Mutation_p.R350Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R562Q	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	562											0						ATATTTAATCGGCATAAAAGT	0.358													A	179414226	G	A	179414226	3	1	180	1	0	0	0	0	1	0	0	0	1993	1116	39	1	1743	1	C1orf125	1	179414226	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	9889717	179414226	69836395	23	96554											
ZNF648	127665	broad.mit.edu	37	chr1	182026551	182026551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcgtgggaaggtcccAgttgctccccggcctgggga	15	13	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:182026551A>C	uc001goz.2	-	2	803	c.595T>G	c.(595-597)TGG>GGG	p.W199G		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGAAGGTCCCAGTTGCTCCCC	0.607													C	182026551	A	C	182026551	3	2	180	1	0	0	0	0	1	0	0	0	18060	188	7	5	1115	5	ZNF648	1	182026551	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	2612325	182026551	67224070	24	96555											
HMCN1	83872	broad.mit.edu	37	chr1	185958651	185958651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaaccagcagtgctaAgttttcagcaggagctgatg	11	8	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:185958651A>C	uc001grq.1	+	21	3309	c.3080A>C	c.(3079-3081)AAG>ACG	p.K1027T	HMCN1_uc001grr.1_Missense_Mutation_p.K368T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1027	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGCAGTGCTAAGTTTTCAGCA	0.463													C	185958651	A	C	185958651	3	2	180	1	0	0	0	0	1	0	0	0	7220	72	3	5	3162	5	HMCN1	1	185958651	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	3932100	185958651	63291970	25	96556											
PTPRC	5788	broad.mit.edu	37	chr1	198685942	198685942	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacgtaatggaagtgctgcaAtgtgtcatttcacaactaaa	8	7	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:198685942A>T	uc001gur.1	+	13	1597	c.1417A>T	c.(1417-1419)ATG>TTG	p.M473L	PTPRC_uc001gus.1_Missense_Mutation_p.M425L|PTPRC_uc001gut.1_Missense_Mutation_p.M312L|PTPRC_uc009wzf.1_Missense_Mutation_p.M361L|PTPRC_uc010ppg.1_Missense_Mutation_p.M409L	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	473	Extracellular (Potential).|Fibronectin type-III 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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AAGTGCTGCAATGTGTCATTT	0.303													T	198685942	A	T	198685942	3	4	180	1	0	0	0	0	1	0	0	0	12797	101	4	5	1474	5	PTPRC	1	198685942	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	12727291	198685942	50564679	26	96557											
ELF3	1999	broad.mit.edu	37	chr1	201982112	201982113	+	Frame_Shift_Ins	INS	-	-	CGGTG													gctcccactcctcagactccINSggtggaagtgacgtggacct					rs148651345		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:201982111_201982112C>CCGGTG	uc001gxg.4	+	4	3827_3828	c.635_636C>CCGGTG	c.(634-636)tccfs	p.S212fs	ELF3_uc001gxi.4_Frame_Shift_Ins_p.S212fs|ELF3_uc001gxh.4_Frame_Shift_Ins_p.S212fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	212					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						TCCTCAGACTCCGGTGGAAGTG	0.639													CGGTG	201982113	-	CGGTG	201982112	7	5	180	1	0	1	1	0	0	0	0	0	5055	639	23	0	654	0	ELF3	1	201982112	Frame_Shift_Ins	INS	-	TCGA-CG-4469-01A-01D-1158-08	3296170	201982112	47268509	27	96558											
USH2A	7399	broad.mit.edu	37	chr1	216258095	216258095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggacatccctcccagctGttatacacgttgatttgttc	9	12	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:216258095G>A	uc001hku.1	-	25	5499	c.5112C>T	c.(5110-5112)AAC>AAT	p.N1704N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1704	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTCCCAGCTGTTATACACGT	0.413										HNSCC(13;0.011)			A	216258095	G	A	216258095	2	1	180	1	0	0	0	0	0	0	0	1	17033	1368	48	4		4	USH2A	1	216258095	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	14275983	216258095	32992526	28	96559											
RYR2	6262	broad.mit.edu	37	chr1	237617755	237617755	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgcctatagagtccgtaAgcctaagtctgcaggatctc	9	10	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:237617755A>C	uc001hyl.1	+	15	1477	c.1357A>C	c.(1357-1359)AGC>CGC	p.S453R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	453	Cytoplasmic (By similarity).				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AGAGTCCGTAAGCCTAAGTCT	0.463													C	237617755	A	C	237617755	3	2	180	1	0	0	0	0	1	0	0	0	13769	72	3	5	1415	5	RYR2	1	237617755	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	21359660	237617755	11632866	29	96560											
OR2G2	81470	broad.mit.edu	37	chr1	247752079	247752079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattacactgtcttaatgCatatccatctctgcatggcc	5	13	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:247752079C>T	uc010pyy.1	+	1	418	c.418C>T	c.(418-420)CAT>TAT	p.H140Y		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			TGTCTTAATGCATATCCATCT	0.577													T	247752079	C	T	247752079	3	4	180	1	0	0	0	0	1	0	0	0	10998	710	25	2	420	2	OR2G2	1	247752079	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	10134324	247752079	1498542	30	96561											
OR2L2	26246	broad.mit.edu	37	chr1	248201578	248201578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggaattccccatggaaaaTtacaatcaaacatcaactga	5	9	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr1:248201578T>G	uc001idw.2	+	1	105	c.9T>G	c.(7-9)AAT>AAG	p.N3K	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			CCATGGAAAATTACAATCAAA	0.299													G	248201578	T	G	248201578	3	3	180	1	0	0	0	0	1	0	0	0	11007	1490	52	5	11	5	OR2L2	1	248201578	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	449499	248201578	1049043	31	96562											
SNTG2	54221	broad.mit.edu	37	chr2	1271161	1271161	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacagaggactgctggTtgcaagcaaacttgtatctg	12	9	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:1271161T>G	uc002qwq.2	+	14	1230	c.1102T>G	c.(1102-1104)TTG>GTG	p.L368V	SNTG2_uc010ewi.2_Missense_Mutation_p.L241V	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	368	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	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)		GGACTGCTGGTTGCAAGCAAA	0.527													G	1271161	T	G	1271161	3	3	180	1	0	0	0	0	1	0	0	0	14875	1722	60	5	1156	5	SNTG2	2	1271161	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08		1271161	241928212	32	96563											
ADAM17	6868	broad.mit.edu	37	chr2	9676896	9676896	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtttttaccatccaccaCcacgaccttgaaattttgtg	5	12	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:9676896C>G	uc002qzu.2	-	3	475	c.292G>C	c.(292-294)GTG>CTG	p.V98L	ADAM17_uc010ewy.2_Missense_Mutation_p.V98L|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.V98L|ADAM17_uc002qzv.2_Missense_Mutation_p.V98L	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	98	Poly-Val.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCATCCACCACCACGACCTTG	0.398													G	9676896	C	G	9676896	3	3	180	1	0	0	0	0	1	0	0	0	238	507	18	5	2250	5	ADAM17	2	9676896	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	8405735	9676896	233522477	33	96564											
ALK	238	broad.mit.edu	37	chr2	29754946	29754946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggactcaggatggtgtgcTtggagtcagctgaggtgttg	17	6	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:29754946T>C	uc002rmy.2	-	4	1896	c.989A>G	c.(988-990)AAG>AGG	p.K330R		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	330	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GATGGTGTGCTTGGAGTCAGC	0.557			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				C	29754946	T	C	29754946	3	2	180	1	0	0	0	0	1	0	0	0	525	1609	56	3	3977	3	ALK	2	29754946	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	20078050	29754946	213444427	34	96565											
ZNF514	84874	broad.mit.edu	37	chr2	95815386	95815386	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtagggtttctctccagtgtGaaatctatagtgcagaacaa	10	7	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:95815386G>A	uc002sue.1	-	5	1218	c.844C>T	c.(844-846)CAC>TAC	p.H282Y	ZNF514_uc002sud.1_Missense_Mutation_p.H355Y	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	282	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCCAGTGTGAAATCTATAG	0.433													A	95815386	G	A	95815386	3	1	180	1	0	0	0	0	1	0	0	0	17956	1290	45	4	362	4	ZNF514	2	95815386	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	66060440	95815386	147383987	35	96566											
LONRF2	164832	broad.mit.edu	37	chr2	100917224	100917224	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcatgcacatttgctgtaGctgaaaacagcacttcacac	6	11	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:100917224G>C	uc002tal.3	-	4	1587	c.947C>G	c.(946-948)GCT>GGT	p.A316G	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	316					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						ATTTGCTGTAGCTGAAAACAG	0.343													C	100917224	G	C	100917224	3	2	180	1	0	0	0	0	1	0	0	0	8895	971	34	5	1353	5	LONRF2	2	100917224	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	5101838	100917224	142282149	36	96567											
C2orf29	55571	broad.mit.edu	37	chr2	101885796	101885796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattgaattcagtaggatacGagaagctgctggtcttttcc	10	7	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:101885796G>A	uc002taw.3	+	7	1536	c.1454G>A	c.(1453-1455)CGA>CAA	p.R485Q		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	485					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGTAGGATACGAGAAGCTGCT	0.393													A	101885796	G	A	101885796	3	1	180	1	0	0	0	0	1	0	0	0	2161	1058	37	1	1480	1	C2orf29	2	101885796	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	968572	101885796	141313577	37	96568											
SLC9A4	389015	broad.mit.edu	37	chr2	103095555	103095555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccctgatcaacgccttgGgcattggcctctccctctac	10	16	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:103095555G>T	uc002tbz.3	+	2	971	c.514G>T	c.(514-516)GGC>TGC	p.G172C		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	172	Helical; Name=E/M5; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CAACGCCTTGGGCATTGGCCT	0.617													T	103095555	G	T	103095555	3	4	180	1	0	0	0	0	1	0	0	0	14716	1232	43	5	520	5	SLC9A4	2	103095555	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1209759	103095555	140103818	38	96569											
IMP4	92856	broad.mit.edu	37	chr2	131103621	131103621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgatacctatttcccGtgcccaaagatgacagccac	6	16	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:131103621G>A	uc002tra.1	+	7	642	c.625G>A	c.(625-627)GTG>ATG	p.V209M		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	209	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					CCTATTTCCCGTGCCCAAAGA	0.592													A	131103621	G	A	131103621	3	1	180	1	0	0	0	0	1	0	0	0	7720	1145	40	1	651	1	IMP4	2	131103621	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	28008066	131103621	112095752	39	96570											
LRP1B	53353	broad.mit.edu	37	chr2	141625248	141625248	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacattctgccctgtccacTtattggctttggacaatgtg	9	10	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:141625248T>G	uc002tvj.1	-	27	5462	c.4490A>C	c.(4489-4491)AAG>ACG	p.K1497T	LRP1B_uc010fnl.1_Missense_Mutation_p.K679T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1497	Extracellular (Potential).|LDL-receptor class B 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CCCTGTCCACTTATTGGCTTT	0.488										TSP Lung(27;0.18)			G	141625248	T	G	141625248	3	3	180	1	0	0	0	0	1	0	0	0	8955	1609	56	5	9569	5	LRP1B	2	141625248	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	10521627	141625248	101574125	40	96571											
LRP1B	53353	broad.mit.edu	37	chr2	141641574	141641574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgctccacaaccacTtcaatggcactgacacctac	6	16	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:141641574T>A	uc002tvj.1	-	25	4953	c.3981A>T	c.(3979-3981)GAA>GAT	p.E1327D	LRP1B_uc010fnl.1_Missense_Mutation_p.E509D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1327	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CCACAACCACTTCAATGGCAC	0.473										TSP Lung(27;0.18)			A	141641574	T	A	141641574	3	1	180	1	0	0	0	0	1	0	0	0	8955	1606	56	5	10086	5	LRP1B	2	141641574	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	16326	141641574	101557799	41	96572											
ARHGAP15	55843	broad.mit.edu	37	chr2	144276860	144276860	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttttggctctcatctgcaCaaagtgtgtgaacgtgaaaa	9	7	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:144276860C>G	uc002tvm.3	+	10	1003	c.852C>G	c.(850-852)CAC>CAG	p.H284Q	ARHGAP15_uc002tvn.2_Missense_Mutation_p.H50Q	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	284	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTCATCTGCACAAAGTGTGTG	0.393													G	144276860	C	G	144276860	3	3	180	1	0	0	0	0	1	0	0	0	866	477	17	5	886	5	ARHGAP15	2	144276860	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2635286	144276860	98922513	42	96573											
SCN9A	6335	broad.mit.edu	37	chr2	167060511	167060511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaaaaatattccatccTacagtgaagtagtagtgtct	6	7	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:167060511T>C	uc010fpl.2	-	26	5036	c.4695A>G	c.(4693-4695)GTA>GTG	p.V1565V	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1576	Helical; Name=S3 of repeat IV; (Potential).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TATTCCATCCTACAGTGAAGT	0.303													C	167060511	T	C	167060511	2	2	180	1	0	0	0	0	0	0	0	1	13925	1509	53	3		3	SCN9A	2	167060511	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	22783651	167060511	76138862	43	96574											
XIRP2	129446	broad.mit.edu	37	chr2	168099123	168099123	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaagccatcatcagttgtGagtacctcttccacttcttg	6	12	5	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:168099123G>A	uc002udx.2	+	8	1239	c.1221G>A	c.(1219-1221)GTG>GTA	p.V407V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.V232V|XIRP2_uc010fpq.2_Silent_p.V185V|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	232					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CATCAGTTGTGAGTACCTCTT	0.423													A	168099123	G	A	168099123	2	1	180	1	0	0	0	0	0	0	0	1	17427	1277	45	4		4	XIRP2	2	168099123	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1038612	168099123	75100250	44	96575											
TTN	7273	broad.mit.edu	37	chr2	179489281	179489281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtacagtcatgtataacaAgttttctgaccctgccatca	8	10	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:179489281A>G	uc010zfg.1	-	191	37246	c.37022T>C	c.(37021-37023)CTT>CCT	p.L12341P	TTN_uc010zfh.1_Missense_Mutation_p.L6036P|TTN_uc010zfi.1_Missense_Mutation_p.L5969P|TTN_uc010zfj.1_Missense_Mutation_p.L5844P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13268							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTATAACAAGTTTTCTGAC	0.383													G	179489281	A	G	179489281	3	3	180	1	0	0	0	0	1	0	0	0	16732	72	3	3	63451	3	TTN	2	179489281	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	11390158	179489281	63710092	45	96576											
TTN	7273	broad.mit.edu	37	chr2	179498346	179498346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacacttcaaagtaatcTcatccttctccactgcagtt	3	14	4	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:179498346T>G	uc010zfg.1	-	181	35260	c.35036A>C	c.(35035-35037)GAG>GCG	p.E11679A	TTN_uc010zfh.1_Missense_Mutation_p.E5374A|TTN_uc010zfi.1_Missense_Mutation_p.E5307A|TTN_uc010zfj.1_Missense_Mutation_p.E5182A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGTAATCTCATCCTTCTC	0.373													G	179498346	T	G	179498346	3	3	180	1	0	0	0	0	1	0	0	0	16732	1551	54	5	65477	5	TTN	2	179498346	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	9065	179498346	63701027	46	96577											
TTN	7273	broad.mit.edu	37	chr2	179594182	179594182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaatttccctgttattcTtcagccaagtgacttcaaac	5	11	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:179594182T>G	uc010zfg.1	-	61	15193	c.14969A>C	c.(14968-14970)AAG>ACG	p.K4990T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1651T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5917							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGTTATTCTTCAGCCAAGT	0.448													G	179594182	T	G	179594182	3	3	180	1	0	0	0	0	1	0	0	0	16732	1609	56	5	86024	5	TTN	2	179594182	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	95836	179594182	63605191	47	96578											
CCDC141	285025	broad.mit.edu	37	chr2	179720163	179720163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcatccacatgtttttGcaaatccttcatgacttcca	4	11	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:179720163G>T	uc002unf.1	-	9	1303	c.1246C>A	c.(1246-1248)CAA>AAA	p.Q416K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	416							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACATGTTTTTGCAAATCCTTC	0.338													T	179720163	G	T	179720163	3	4	180	1	0	0	0	0	1	0	0	0	2775	1328	46	5	1401	5	CCDC141	2	179720163	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	125981	179720163	63479210	48	96579											
CCDC141	285025	broad.mit.edu	37	chr2	179736260	179736260	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcataagtgcttcctgaagaAgttttaagttgtgagaagtc	11	5	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:179736260A>C	uc002unf.1	-	4	431	c.374T>G	c.(373-375)CTT>CGT	p.L125R		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	125	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCCTGAAGAAGTTTTAAGTT	0.408													C	179736260	A	C	179736260	3	2	180	1	0	0	0	0	1	0	0	0	2775	72	3	5	2293	5	CCDC141	2	179736260	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	16097	179736260	63463113	49	96580											
MAP2	4133	broad.mit.edu	37	chr2	210557509	210557509	+	Missense_Mutation	SNP	A	A	C													tctcagccagagacaactaaAacttaccctgataaaaagga							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:210557509A>C	uc002vde.1	+	7	863	c.615A>C	c.(613-615)AAA>AAC	p.K205N	MAP2_uc002vdc.1_Missense_Mutation_p.K205N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K201N	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	205					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	AGACAACTAAAACTTACCCTG	0.463													C	210557509	A	C	210557509	3	2	180	1	0	0	0	0	1	0	0	0	9235	11	1	5	629	5	MAP2	2	210557509	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	30821249	210557509	32641864	50	96581	481	2									
MAP2	4133	broad.mit.edu	37	chr2	210557512	210557512	+	Silent	SNP	T	T	G													cagccagagacaactaaaacTtaccctgataaaaaggacat							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:210557512T>G	uc002vde.1	+	7	866	c.618T>G	c.(616-618)ACT>ACG	p.T206T	MAP2_uc002vdc.1_Silent_p.T206T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T202T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	206					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CAACTAAAACTTACCCTGATA	0.458													G	210557512	T	G	210557512	2	3	180	1	0	0	0	0	0	0	0	1	9235	1596	56	5		5	MAP2	2	210557512	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	3	210557512	32641861	51	96582	481	2									
CPS1	1373	broad.mit.edu	37	chr2	211476868	211476869	+	Frame_Shift_Del	DEL	GA	GA	-													ctattggtcgtacctttgagGagagtttccagaaagcttta							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:211476868_211476869delGA	uc002vee.3	+	20	2551_2552	c.2419_2420delGA	c.(2419-2421)GAGfs	p.E807fs	CPS1_uc010fur.2_Frame_Shift_Del_p.E813fs|CPS1_uc010fus.2_Frame_Shift_Del_p.E356fs	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	807					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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TACCTTTGAGGAGAGTTTCCAG	0.396													-	211476869	GA	-	211476868	7	5	180	1	0	1	0	1	0	0	0	0	3823	1175	41	0	2519	0	CPS1	2	211476868	Frame_Shift_Del	DEL	GA	TCGA-CG-4469-01A-01D-1158-08	919356	211476868	31722505	52	96583											
ERBB4	2066	broad.mit.edu	37	chr2	212589824	212589824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtctgtgtccttaggtcCtgagcagcctccagcacatt	10	13	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:212589824C>T	uc002veg.1	-	6	816	c.718G>A	c.(718-720)GGA>AGA	p.G240R	ERBB4_uc002veh.1_Missense_Mutation_p.G240R|ERBB4_uc010zji.1_Missense_Mutation_p.G240R|ERBB4_uc010zjj.1_Missense_Mutation_p.G240R|ERBB4_uc010fut.1_Missense_Mutation_p.G240R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	240	Cys-rich.|Extracellular (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		TCCTTAGGTCCTGAGCAGCCT	0.478										TSP Lung(8;0.080)			T	212589824	C	T	212589824	3	4	180	1	0	0	0	0	1	0	0	0	5209	690	24	4	3300	4	ERBB4	2	212589824	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1112956	212589824	30609549	53	96584											
OBSL1	23363	broad.mit.edu	37	chr2	220435229	220435229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcggctccaccaccggCgcgggggcctcgtcggggtc	17	15	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr2:220435229C>T	uc010fwk.2	-	1	783	c.726G>A	c.(724-726)GCG>GCA	p.A242A	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.A242A|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	242					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		CCACCACCGGCGCGGGGGCCT	0.746													T	220435229	C	T	220435229	2	4	180	1	0	0	0	0	0	0	0	1	10813	755	27	1		1	OBSL1	2	220435229	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	7845405	220435229	22764144	54	96585											
CHL1	10752	broad.mit.edu	37	chr3	447213	447213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcaaaggaagccttcGgtcccttaatagggatatgc	10	11	1	0	rs139892128		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:447213G>A	uc003bou.2	+	27	3717	c.3446G>A	c.(3445-3447)CGG>CAG	p.R1149Q	CHL1_uc003bot.2_Missense_Mutation_p.R1165Q|CHL1_uc011asi.1_Missense_Mutation_p.R1112Q	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1149	Cytoplasmic (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		GGAAGCCTTCGGTCCCTTAAT	0.388													A	447213	G	A	447213	3	1	180	1	0	0	0	0	1	0	0	0	3349	1116	39	1	3596	1	CHL1	3	447213	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08		447213	197575217	55	96586											
ZCWPW2	152098	broad.mit.edu	37	chr3	28562499	28562499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagttgtctgtgagacggaAgttttactaaaagagctgga	12	4	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:28562499A>C	uc003ceh.2	+	9	969	c.801A>C	c.(799-801)GAA>GAC	p.E267D	ZCWPW2_uc003cei.2_Missense_Mutation_p.E267D|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E72D	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	267							zinc ion binding			ovary(2)	2						GTGAGACGGAAGTTTTACTAA	0.378													C	28562499	A	C	28562499	3	2	180	1	0	0	0	0	1	0	0	0	17595	69	3	5	827	5	ZCWPW2	3	28562499	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	28115286	28562499	169459931	56	96587											
TRANK1	9881	broad.mit.edu	37	chr3	36898370	36898370	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcagccagtttgcagTgatctaagacgatgtcccaa	10	9	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:36898370T>A	uc003cgj.2	-	3	1363	c.1061A>T	c.(1060-1062)CAC>CTC	p.H354L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	904					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CAGTTTGCAGTGATCTAAGAC	0.502													A	36898370	T	A	36898370	3	1	180	1	0	0	0	0	1	0	0	0	16451	1696	59	5	6114	5	TRANK1	3	36898370	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	8335871	36898370	161124060	57	96588											
CTNNB1	1499	broad.mit.edu	37	chr3	41275180	41275180	+	Frame_Shift_Del	DEL	G	G	-													tggtatagaggctcttgtgcGtactgtccttcgggctggtg							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:41275180delG	uc010hia.1	+	10	1502	c.1346delG	c.(1345-1347)CGTfs	p.R449fs	CTNNB1_uc003ckp.2_Frame_Shift_Del_p.R449fs|CTNNB1_uc003ckq.2_Frame_Shift_Del_p.R449fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.R449fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.R442fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.R377fs|CTNNB1_uc003cks.2_Frame_Shift_Del_p.R52fs|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	449	ARM 8.				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)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GCTCTTGTGCGTACTGTCCTT	0.512		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				-	41275180	G	-	41275180	7	5	180	1	0	1	0	1	0	0	0	0	4016	1145	40	0	1376	0	CTNNB1	3	41275180	Frame_Shift_Del	DEL	G	TCGA-CG-4469-01A-01D-1158-08	4376810	41275180	156747250	58	96589											
CCDC13	152206	broad.mit.edu	37	chr3	42793433	42793433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagagaattcataccaatgCtctgtctcccatctgggccc	8	13	4	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:42793433C>A	uc003cly.3	-	5	682	c.598G>T	c.(598-600)GCA>TCA	p.A200S	CCDC13_uc003clz.2_Missense_Mutation_p.A200S|CCDC13_uc011azq.1_Missense_Mutation_p.A200S	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	200	Potential.									ovary(1)	1						CATACCAATGCTCTGTCTCCC	0.607													A	42793433	C	A	42793433	3	1	180	1	0	0	0	0	1	0	0	0	2765	797	28	5	1597	5	CCDC13	3	42793433	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1518253	42793433	155228997	59	96590											
LAMB2	3913	broad.mit.edu	37	chr3	49160671	49160671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcctccttctgagcaTccatcagtgcctctgtccga	8	14	3	2	rs112933248		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:49160671T>C	uc003cwe.2	-	26	4417	c.4118A>G	c.(4117-4119)GAT>GGT	p.D1373G	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1373	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCTGAGCATCCATCAGTGC	0.567													C	49160671	T	C	49160671	3	2	180	1	0	0	0	0	1	0	0	0	8611	1435	50	3	1306	3	LAMB2	3	49160671	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	6367238	49160671	148861759	60	96591											
DNAH1	25981	broad.mit.edu	37	chr3	52404576	52404576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttctccctgatctggagCgtgggtgccactggggacag	14	11	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:52404576C>T	uc011bef.1	+	40	6603	c.6342C>T	c.(6340-6342)AGC>AGT	p.S2114S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2114					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			large_intestine(3)	3				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)		TGATCTGGAGCGTGGGTGCCA	0.587													T	52404576	C	T	52404576	2	4	180	1	0	0	0	0	0	0	0	1	4597	767	27	1		1	DNAH1	3	52404576	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	3243905	52404576	145617854	61	96592											
PTPRG	5793	broad.mit.edu	37	chr3	62216974	62216974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcttctggggagagaggagaGaaggggagcaggtgaggggc	22	4	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:62216974G>C	uc003dlb.2	+	14	3083	c.2364G>C	c.(2362-2364)GAG>GAC	p.E788D	PTPRG_uc003dlc.2_Intron|PTPRG_uc011bfi.1_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	788	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGAGAGGAGAGAAGGGGAGCA	0.498													C	62216974	G	C	62216974	3	2	180	1	0	0	0	0	1	0	0	0	12802	933	33	5	2418	5	PTPRG	3	62216974	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	9812398	62216974	135805456	62	96593											
CADPS	8618	broad.mit.edu	37	chr3	62535631	62535631	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcctcccttggcgttgAgtttctggacttgggtcggg	13	10	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:62535631A>C	uc003dll.2	-	11	2273	c.1913T>G	c.(1912-1914)CTC>CGC	p.L638R	CADPS_uc003dlk.1_Missense_Mutation_p.L142R|CADPS_uc003dlm.2_Missense_Mutation_p.L638R|CADPS_uc003dln.2_Missense_Mutation_p.L638R	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	638					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		CTTGGCGTTGAGTTTCTGGAC	0.507													C	62535631	A	C	62535631	3	2	180	1	0	0	0	0	1	0	0	0	2570	304	11	5	2301	5	CADPS	3	62535631	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	318657	62535631	135486799	63	96594											
OR5H14	403273	broad.mit.edu	37	chr3	97869148	97869148	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattcacaaaaatgttcaaaAgaaatgatgtttagatcatt	5	5	3	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:97869148A>T	uc003dsg.1	+	1	919	c.919A>T	c.(919-921)AGA>TGA	p.R307*		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AATGTTCAAAAGAAATGATGT	0.303													T	97869148	A	T	97869148	4	4	180	1	0	0	0	0	0	1	0	0	11160	64	3	5	921	5	OR5H14	3	97869148	Nonsense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	35333517	97869148	100153282	64	96595											
POLQ	10721	broad.mit.edu	37	chr3	121258317	121258317	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttcctctatgaggcgattGatcagaccattggctctctc	8	11	3	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:121258317G>A	uc003eee.3	-	4	723	c.594C>T	c.(592-594)ATC>ATT	p.I198I		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	198	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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TGAGGCGATTGATCAGACCAT	0.378								DNA_polymerases_(catalytic_subunits)					A	121258317	G	A	121258317	2	1	180	1	0	0	0	0	0	0	0	1	12208	1280	45	4		4	POLQ	3	121258317	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	23389169	121258317	76764113	65	96596											
GOLGB1	2804	broad.mit.edu	37	chr3	121415806	121415806	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgccttgcgggaggttaaGgcttcctgtagcttcttttg	12	8	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:121415806G>C	uc003eei.3	-	13	3675	c.3549C>G	c.(3547-3549)GCC>GCG	p.A1183A	GOLGB1_uc010hrc.2_Silent_p.A1188A|GOLGB1_uc003eej.3_Silent_p.A1149A|GOLGB1_uc011bjm.1_Silent_p.A1069A|GOLGB1_uc010hrd.1_Silent_p.A1147A	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1183	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GGGAGGTTAAGGCTTCCTGTA	0.423													C	121415806	G	C	121415806	2	2	180	1	0	0	0	0	0	0	0	1	6565	987	35	5		5	GOLGB1	3	121415806	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	157489	121415806	76606624	66	96597											
ZIC4	84107	broad.mit.edu	37	chr3	147114142	147114142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggagccccagacgcaggAgtccattcaaaggacggctg	14	12	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:147114142A>G	uc003ewd.1	-	3	458	c.185T>C	c.(184-186)CTC>CCC	p.L62P	ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.L112P	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	62						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CAGACGCAGGAGTCCATTCAA	0.741													G	147114142	A	G	147114142	3	3	180	1	0	0	0	0	1	0	0	0	17678	304	11	3	831	3	ZIC4	3	147114142	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	25698336	147114142	50908288	67	96598											
MED12L	116931	broad.mit.edu	37	chr3	151129179	151129179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataactccagagcctatccGgccgcacattccaaccccgt	6	17	0	1	rs143048351		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:151129179G>A	uc003eyp.2	+	39	5957	c.5919G>A	c.(5917-5919)CCG>CCA	p.P1973P	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1973	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGCCTATCCGGCCGCACATT	0.572													A	151129179	G	A	151129179	2	1	180	1	0	0	0	0	0	0	0	1	9429	1103	39	1		1	MED12L	3	151129179	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	4015037	151129179	46893251	68	96599											
IGSF10	285313	broad.mit.edu	37	chr3	151161049	151161049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagtcccatttgaaaataAgaacaacttggaattggtaa	7	6	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:151161049A>C	uc011bod.1	-	5	5686	c.5686T>G	c.(5686-5688)TTA>GTA	p.L1896V	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1896	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGAAAATAAGAACAACTTG	0.453													C	151161049	A	C	151161049	3	2	180	1	0	0	0	0	1	0	0	0	7597	69	3	5	2241	5	IGSF10	3	151161049	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	31870	151161049	46861381	69	96600											
WDR49	151790	broad.mit.edu	37	chr3	167245795	167245795	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcttactggagttaAgacagtactcctgaatgaaa	8	6	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:167245795A>C	uc003fev.1	-	11	1667	c.1361T>G	c.(1360-1362)CTT>CGT	p.L454R	WDR49_uc003feu.1_Missense_Mutation_p.L279R|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	454	WD 7.									large_intestine(1)|ovary(1)|skin(1)	3						ACTGGAGTTAAGACAGTACTC	0.358													C	167245795	A	C	167245795	3	2	180	1	0	0	0	0	1	0	0	0	17299	72	3	5	752	5	WDR49	3	167245795	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	16084746	167245795	30776635	70	96601											
NAALADL2	254827	broad.mit.edu	37	chr3	174814756	174814756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggtgctgagaatcagaacCtagggcattcagagactata	11	8	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:174814756C>G	uc003fit.2	+	2	307	c.220C>G	c.(220-222)CTA>GTA	p.L74V	NAALADL2_uc003fiu.1_Missense_Mutation_p.L67V	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	74	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		GAATCAGAACCTAGGGCATTC	0.463													G	174814756	C	G	174814756	3	3	180	1	0	0	0	0	1	0	0	0	10130	680	24	5	226	5	NAALADL2	3	174814756	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	7568961	174814756	23207674	71	96602											
USP13	8975	broad.mit.edu	37	chr3	179424791	179424791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaggacccagacacgtggGaaaatgaattgccagtatct	11	9	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr3:179424791G>A	uc003fkh.2	+	5	628	c.547G>A	c.(547-549)GAA>AAA	p.E183K	USP13_uc003fkf.2_Missense_Mutation_p.E183K	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	183					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	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)			AGACACGTGGGAAAATGAATT	0.423													A	179424791	G	A	179424791	3	1	180	1	0	0	0	0	1	0	0	0	17041	1175	41	4	565	4	USP13	3	179424791	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	4610035	179424791	18597639	72	96603											
HGFAC	3083	broad.mit.edu	37	chr4	3446111	3446111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcgtgcgccagggccaCgtggaacagtgcgagtgctt	16	13	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:3446111C>T	uc003ghc.2	+	6	675	c.672C>T	c.(670-672)CAC>CAT	p.H224H	HGFAC_uc010icw.2_Silent_p.H224H	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	224	Fibronectin type-I.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCAGGGCCACGTGGAACAGT	0.672													T	3446111	C	T	3446111	2	4	180	1	0	0	0	0	0	0	0	1	7086	535	19	1		1	HGFAC	4	3446111	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08		3446111	187708165	73	96604											
C4orf50	389197	broad.mit.edu	37	chr4	5975440	5975440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcagccagtgccacgtcGttgagcatgttctgcgccag	11	13	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:5975440G>A	uc003git.1	-	4	444	c.354C>T	c.(352-354)AAC>AAT	p.N118N		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	118										pancreas(2)|breast(1)	3						GTGCCACGTCGTTGAGCATGT	0.632													A	5975440	G	A	5975440	2	1	180	1	0	0	0	0	0	0	0	1	2276	1136	40	1		1	C4orf50	4	5975440	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2529329	5975440	185178836	74	96605											
BEND4	389206	broad.mit.edu	37	chr4	42122308	42122308	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcaacagctgcttgcTtccctggaaaagcgaaatat	9	9	1	0	rs147406283	by1000genomes	TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:42122308T>G	uc003gwn.2	-	5	1730	c.1150A>C	c.(1150-1152)AGC>CGC	p.S384R	BEND4_uc003gwm.2_Missense_Mutation_p.S384R|BEND4_uc011byy.1_Missense_Mutation_p.S384R	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	384											0						AGCTGCTTGCTTCCCTGGAAA	0.438													G	42122308	T	G	42122308	3	3	180	1	0	0	0	0	1	0	0	0	1400	1609	56	5	462	5	BEND4	4	42122308	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	36146868	42122308	149031968	75	96606											
GUF1	60558	broad.mit.edu	37	chr4	44682845	44682845	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaagcagtaccttttaaatCtcattgatacaccggtaagt	7	8	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:44682845C>T	uc003gww.3	+	3	619	c.412C>T	c.(412-414)CTC>TTC	p.L138F	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	138					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						CCTTTTAAATCTCATTGATAC	0.254													T	44682845	C	T	44682845	3	4	180	1	0	0	0	0	1	0	0	0	6899	913	32	4	422	4	GUF1	4	44682845	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2560537	44682845	146471431	76	96607											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68939662	68939662	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaccaaatttacatacctTaatttgataacatgagattt	3	6	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:68939662T>G	uc003hdt.1	-	4	397	c.348A>C	c.(346-348)TTA>TTC	p.L116F	LOC550112_uc003hdl.3_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	116	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TTACATACCTTAATTTGATAA	0.313													G	68939662	T	G	68939662	3	3	180	1	0	0	0	0	1	0	0	0	16240	1751	61	5	996	5	TMPRSS11F	4	68939662	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	24256817	68939662	122214614	77	96608											
UGT2B10	7365	broad.mit.edu	37	chr4	69875659	69875659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcattctggggtatccaCctgtacagccgagtattgag	12	9	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:69875659C>T	uc011cao.1	-	7	1087	c.951G>A	c.(949-951)AAG>AAA	p.K317K	UGT2B10_uc011can.1_Silent_p.K233K			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	354					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						GGGGTATCCACCTGTACAGCC	0.383													T	69875659	C	T	69875659	2	4	180	1	0	0	0	0	0	0	0	1	16953	506	18	4		4	UGT2B10	4	69875659	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	935997	69875659	121278617	78	96609											
PROL1	58503	broad.mit.edu	37	chr4	71275771	71275771	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaagtttttggcaaaaActctttgccatttttggttg	7	5	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:71275771A>C	uc003hfi.2	+	3	900	c.726A>C	c.(724-726)AAA>AAC	p.K242N		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	242					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)				TTTGGCAAAAACTCTTTGCCA	0.378													C	71275771	A	C	71275771	3	2	180	1	0	0	0	0	1	0	0	0	12554	40	2	5	732	5	PROL1	4	71275771	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1400112	71275771	119878505	79	96610											
ADAMTS3	9508	broad.mit.edu	37	chr4	73154509	73154509	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgaccgactcaggcTtttcaccatcacagtggtcc	9	14	4	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:73154509T>G	uc003hgk.1	-	21	3045	c.3008A>C	c.(3007-3009)AAG>ACG	p.K1003T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1003	TSP type-1 4.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			CGACTCAGGCTTTTCACCATC	0.512													G	73154509	T	G	73154509	3	3	180	1	0	0	0	0	1	0	0	0	267	1609	56	5	617	5	ADAMTS3	4	73154509	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1878738	73154509	117999767	80	96611											
FRAS1	80144	broad.mit.edu	37	chr4	79186217	79186217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggaaaatgttgcccGcagtgctctgcaagatcctg	11	12	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:79186217G>A	uc003hlb.2	+	7	1082	c.642G>A	c.(640-642)CCG>CCA	p.P214P	FRAS1_uc003hkw.2_Silent_p.P214P|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	214	VWFC 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AATGTTGCCCGCAGTGCTCTG	0.478													A	79186217	G	A	79186217	2	1	180	1	0	0	0	0	0	0	0	1	6042	1074	38	1		1	FRAS1	4	79186217	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	6031708	79186217	111968059	81	96612											
UNC5C	8633	broad.mit.edu	37	chr4	96171665	96171665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgacagtggcagttgtacTtttcctcttggcaacaatgt	9	8	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:96171665T>C	uc003htp.1	-	5	902	c.748A>G	c.(748-750)AGT>GGT	p.S250G	UNC5C_uc010ilc.1_Missense_Mutation_p.S250G|UNC5C_uc003htq.2_Missense_Mutation_p.S250G	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	250	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAGTTGTACTTTTCCTCTTG	0.423													C	96171665	T	C	96171665	3	2	180	1	0	0	0	0	1	0	0	0	16990	1609	56	3	2095	3	UNC5C	4	96171665	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	16985448	96171665	94982611	82	96613											
FAT4	79633	broad.mit.edu	37	chr4	126237930	126237930	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctaccccaccgaagtgCgagtgctggtgcgggacctc	12	16	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:126237930C>T	uc003ifj.3	+	1	364	c.364C>T	c.(364-366)CGA>TGA	p.R122*		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	122	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACCGAAGTGCGAGTGCTGGT	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126237930	C	T	126237930	4	4	180	1	0	0	0	0	0	1	0	0	5692	760	27	1	366	1	FAT4	4	126237930	Nonsense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	30066265	126237930	64916346	83	96614											
FAT4	79633	broad.mit.edu	37	chr4	126336095	126336095	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatagccttgggcagtttActgttgacaagaatggtgta	13	5	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:126336095A>C	uc003ifj.3	+	5	5977	c.5977A>C	c.(5977-5979)ACT>CCT	p.T1993P	FAT4_uc011cgp.1_Missense_Mutation_p.T291P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1993	Cadherin 19.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGGGCAGTTTACTGTTGACAA	0.393													C	126336095	A	C	126336095	3	2	180	1	0	0	0	0	1	0	0	0	5692	391	14	5	5995	5	FAT4	4	126336095	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	98165	126336095	64818181	84	96615											
FAT4	79633	broad.mit.edu	37	chr4	126372808	126372808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaaggtccctttacttAttacttgctgagcacaggtc	7	10	1	1	rs79726583		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:126372808A>C	uc003ifj.3	+	9	10637	c.10637A>C	c.(10636-10638)TAT>TCT	p.Y3546S	FAT4_uc011cgp.1_Missense_Mutation_p.Y1844S|FAT4_uc003ifi.1_Missense_Mutation_p.Y1024S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3546	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCCTTTACTTATTACTTGCTG	0.493													C	126372808	A	C	126372808	3	2	180	1	0	0	0	0	1	0	0	0	5692	449	16	5	10671	5	FAT4	4	126372808	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	36713	126372808	64781468	85	96616											
FAT4	79633	broad.mit.edu	37	chr4	126411765	126411765	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttatctatgatgaaacTgatattcctcacaactcaga	4	10	3	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:126411765T>C	uc003ifj.3	+	17	13788	c.13788T>C	c.(13786-13788)ACT>ACC	p.T4596T	FAT4_uc011cgp.1_Silent_p.T2837T|FAT4_uc003ifi.1_Silent_p.T2073T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4596	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATGATGAAACTGATATTCCTC	0.498													C	126411765	T	C	126411765	2	2	180	1	0	0	0	0	0	0	0	1	5692	1567	55	3		3	FAT4	4	126411765	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	38957	126411765	64742511	86	96617											
NR3C2	4306	broad.mit.edu	37	chr4	149035392	149035392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaaatgcagcctggcTtttgaggccatcctttggaa	9	10	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:149035392T>C	uc003ilj.3	-	8	2996	c.2662A>G	c.(2662-2664)AGC>GGC	p.S888G	NR3C2_uc003ilk.3_Missense_Mutation_p.S771G|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	888	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCAGCCTGGCTTTTGAGGCCA	0.413													C	149035392	T	C	149035392	3	2	180	1	0	0	0	0	1	0	0	0	10631	1609	56	3	300	3	NR3C2	4	149035392	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	22623627	149035392	42118884	87	96618											
DCHS2	54798	broad.mit.edu	37	chr4	155252779	155252779	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgagaacaaaggcttgaAgttcatcagaactgaatgca	9	7	2	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:155252779A>T	uc003inw.2	-	10	2321	c.2321T>A	c.(2320-2322)CTT>CAT	p.L774H	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	774	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAGGCTTGAAGTTCATCAGA	0.303													T	155252779	A	T	155252779	3	4	180	1	0	0	0	0	1	0	0	0	4288	72	3	5	6589	5	DCHS2	4	155252779	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	6217387	155252779	35901497	88	96619											
ADAM29	11086	broad.mit.edu	37	chr4	175898835	175898835	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgcaaaagaagaggaaaAaattcagcgtcgacctcatg	9	8	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr4:175898835A>C	uc003iuc.2	+	5	2829	c.2159A>C	c.(2158-2160)AAA>ACA	p.K720T	ADAM29_uc003iud.2_Missense_Mutation_p.K720T|ADAM29_uc010irr.2_Missense_Mutation_p.K720T|ADAM29_uc011cki.1_Missense_Mutation_p.K720T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	720	Cytoplasmic (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		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)		GAAGAGGAAAAAATTCAGCGT	0.413													C	175898835	A	C	175898835	3	2	180	1	0	0	0	0	1	0	0	0	247	14	1	5	2161	5	ADAM29	4	175898835	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	20646056	175898835	15255441	89	96620											
KIAA0947	23379	broad.mit.edu	37	chr5	5462906	5462906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagaggtaggttatttgacGtcagctctgcaagattttaa	10	5	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:5462906G>A	uc003jdm.3	+	13	3681	c.3459G>A	c.(3457-3459)ACG>ACA	p.T1153T		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1153										ovary(1)|central_nervous_system(1)	2						GTTATTTGACGTCAGCTCTGC	0.438													A	5462906	G	A	5462906	2	1	180	1	0	0	0	0	0	0	0	1	8202	1132	40	1		1	KIAA0947	5	5462906	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08		5462906	175452354	90	96621											
CTNND2	1501	broad.mit.edu	37	chr5	10973668	10973668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacgtagttgccggtggacTtgagacccaggtgcatggtg	15	9	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:10973668T>G	uc003jfa.1	-	22	3720	c.3575A>C	c.(3574-3576)AAG>ACG	p.K1192T	CTNND2_uc010itt.2_Missense_Mutation_p.K1101T|CTNND2_uc011cmy.1_Missense_Mutation_p.K855T|CTNND2_uc011cmz.1_Missense_Mutation_p.K759T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.K784T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1192					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GCCGGTGGACTTGAGACCCAG	0.562													G	10973668	T	G	10973668	3	3	180	1	0	0	0	0	1	0	0	0	4020	1609	56	5	106	5	CTNND2	5	10973668	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	5510762	10973668	169941592	91	96622											
BDP1	55814	broad.mit.edu	37	chr5	70860616	70860616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttactgaaagaaggataTaaaagtgcccaaaagcgggc	10	9	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:70860616T>C	uc003kbp.1	+	39	8042	c.7779T>C	c.(7777-7779)TAT>TAC	p.Y2593Y	BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2593					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		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)		AAGAAGGATATAAAAGTGCCC	0.333													C	70860616	T	C	70860616	2	2	180	1	0	0	0	0	0	0	0	1	1395	1413	49	3		3	BDP1	5	70860616	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	59886948	70860616	110054644	92	96623											
CMYA5	202333	broad.mit.edu	37	chr5	79030171	79030171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacttatgagagagaatttGcctttggaacaatcaaaatc	7	7	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:79030171G>T	uc003kgc.2	+	2	5655	c.5583G>T	c.(5581-5583)TTG>TTT	p.L1861F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1861						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		GAGAGAATTTGCCTTTGGAAC	0.343													T	79030171	G	T	79030171	3	4	180	1	0	0	0	0	1	0	0	0	3590	1310	46	5	5589	5	CMYA5	5	79030171	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	8169555	79030171	101885089	93	96624											
CMYA5	202333	broad.mit.edu	37	chr5	79034232	79034232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagacagcttctgaaggtgAcagtgtgaattctgaggcat	14	6	2	5			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:79034232A>G	uc003kgc.2	+	2	9716	c.9644A>G	c.(9643-9645)GAC>GGC	p.D3215G		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3215						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		TCTGAAGGTGACAGTGTGAAT	0.403													G	79034232	A	G	79034232	3	3	180	1	0	0	0	0	1	0	0	0	3590	275	10	3	9650	3	CMYA5	5	79034232	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	4061	79034232	101881028	94	96625											
CMYA5	202333	broad.mit.edu	37	chr5	79095378	79095378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcctttgccctggagaAacctggaaaatgtactttgc	9	12	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:79095378A>G	uc003kgc.2	+	13	12221	c.12149A>G	c.(12148-12150)AAA>AGA	p.K4050R		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4050	B30.2/SPRY.			K -> E (in Ref. 2; CAD38607).		perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		GCCCTGGAGAAACCTGGAAAA	0.483													G	79095378	A	G	79095378	3	3	180	1	0	0	0	0	1	0	0	0	3590	14	1	3	12199	3	CMYA5	5	79095378	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	61146	79095378	101819882	95	96626											
VCAN	1462	broad.mit.edu	37	chr5	82817020	82817020	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacccaagagcctactacTtatgtagactcttcccatac	5	14	1	2	rs141161041		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:82817020T>G	uc003kii.3	+	7	3251	c.2895T>G	c.(2893-2895)ACT>ACG	p.T965T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.T965T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	965	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		AGCCTACTACTTATGTAGACT	0.433													G	82817020	T	G	82817020	2	3	180	1	0	0	0	0	0	0	0	1	17135	1596	56	5		5	VCAN	5	82817020	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	3721642	82817020	98098240	96	96627											
VCAN	1462	broad.mit.edu	37	chr5	82817101	82817101	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtaccttctgttccatcAgaagatgaagttctaggtga	9	7	3	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:82817101A>C	uc003kii.3	+	7	3332	c.2976A>C	c.(2974-2976)TCA>TCC	p.S992S	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.S992S|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	992	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CTGTTCCATCAGAAGATGAAG	0.428													C	82817101	A	C	82817101	2	2	180	1	0	0	0	0	0	0	0	1	17135	175	7	5		5	VCAN	5	82817101	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	81	82817101	98098159	97	96628											
SLCO6A1	133482	broad.mit.edu	37	chr5	101735362	101735362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatagcactttgcatcacAtttcccgggtctggcatcaa	7	12	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:101735362A>G	uc003knn.2	-	10	1883	c.1711T>C	c.(1711-1713)TGT>CGT	p.C571R	SLCO6A1_uc003kno.2_Missense_Mutation_p.C318R|SLCO6A1_uc003knp.2_Missense_Mutation_p.C571R|SLCO6A1_uc003knq.2_Missense_Mutation_p.C509R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	571	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		TTTGCATCACATTTCCCGGGT	0.363													G	101735362	A	G	101735362	3	3	180	1	0	0	0	0	1	0	0	0	14732	217	8	3	464	3	SLCO6A1	5	101735362	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	18918261	101735362	79179898	98	96629											
APC	324	broad.mit.edu	37	chr5	112175553	112175553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggcattataagccccaGtgatcttccagatagccctg	9	11	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:112175553G>A	uc010jby.2	+	16	4642	c.4262G>A	c.(4261-4263)AGT>AAT	p.S1421N	APC_uc011cvt.1_Missense_Mutation_p.S1403N|APC_uc003kpz.3_Missense_Mutation_p.S1421N|APC_uc003kpy.3_Missense_Mutation_p.S1421N|APC_uc010jbz.2_Missense_Mutation_p.S1138N|APC_uc010jca.2_Missense_Mutation_p.S721N	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1421	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.S1421fs*52(7)|p.D1422fs*2(2)|p.Y1376fs*41(1)|p.S1421fs*53(1)|p.?(1)|p.S1421fs*1(1)|p.S1411fs*41(1)|p.K1192fs*3(1)|p.S1421S(1)|p.D1422fs*1(1)|p.S1421fs*2(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		ATAAGCCCCAGTGATCTTCCA	0.473		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112175553	G	A	112175553	3	1	180	1	0	0	0	0	1	0	0	0	763	1029	36	4	4320	4	APC	5	112175553	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	10440191	112175553	68739707	99	96630											
KDM3B	51780	broad.mit.edu	37	chr5	137713489	137713489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgctttgatcagtgaccaAaagctacaagagatattcag	8	7	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:137713489A>G	uc003lcy.1	+	4	755	c.555A>G	c.(553-555)CAA>CAG	p.Q185Q	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	185					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			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TCAGTGACCAAAAGCTACAAG	0.408													G	137713489	A	G	137713489	2	3	180	1	0	0	0	0	0	0	0	1	8127	11	1	3		3	KDM3B	5	137713489	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	25537936	137713489	43201771	100	96631											
PCDHA11	56138	broad.mit.edu	37	chr5	140250915	140250915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgctggtgtgctcccgcGcggtggggagctggtcatac	16	13	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:140250915G>A	uc003lia.2	+	1	3085	c.2227G>A	c.(2227-2229)GCG>ACG	p.A743T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A743T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	743	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCCCGCGCGGTGGGGAG	0.682													A	140250915	G	A	140250915	3	1	180	1	0	0	0	0	1	0	0	0	11521	1087	38	1	2229	1	PCDHA11	5	140250915	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2537426	140250915	40664345	101	96632											
PCDHA13	56136	broad.mit.edu	37	chr5	140262769	140262769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggagaaattaggacaaaaGgcaaactagatttcgaagaa	10	4	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:140262769G>C	uc003lif.2	+	1	916	c.916G>C	c.(916-918)GGC>CGC	p.G306R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.G306R|PCDHA13_uc003lid.2_Missense_Mutation_p.G306R	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	306	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGACAAAAGGCAAACTAGA	0.378													C	140262769	G	C	140262769	3	2	180	1	0	0	0	0	1	0	0	0	11523	1000	35	5	918	5	PCDHA13	5	140262769	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	11854	140262769	40652491	102	96633											
PCDHB2	56133	broad.mit.edu	37	chr5	140476258	140476258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatggcgaggtgcgcacCgccaggctgctgagggagcg	17	12	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:140476258C>T	uc003lil.2	+	1	2022	c.1884C>T	c.(1882-1884)ACC>ACT	p.T628T	PCDHB2_uc003lim.1_Silent_p.T289T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	628	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.706													T	140476258	C	T	140476258	2	4	180	1	0	0	0	0	0	0	0	1	11542	639	23	1		1	PCDHB2	5	140476258	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	213489	140476258	40439002	103	96634											
PCDHB11	56125	broad.mit.edu	37	chr5	140580728	140580728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctacaccctgttcgtcCgcgagaacaacagccccgcc	7	20	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:140580728C>T	uc003liy.2	+	1	1381	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C	PCDHB11_uc011daj.1_Missense_Mutation_p.R96C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	461	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.587													T	140580728	C	T	140580728	3	4	180	1	0	0	0	0	1	0	0	0	11536	652	23	1	1383	1	PCDHB11	5	140580728	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	104470	140580728	40334532	104	96635											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773889	140773889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggcgcccctgtcctcGtatatctccatcaactctga	9	15	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:140773889G>A	uc003lkd.1	+	1	2407	c.1509G>A	c.(1507-1509)TCG>TCA	p.S503S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.S503S	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	503	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGTCCTCGTATATCTCCA	0.567													A	140773889	G	A	140773889	2	1	180	1	0	0	0	0	0	0	0	1	11560	1132	40	1		1	PCDHGA8	5	140773889	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	193161	140773889	40141371	105	96636											
SLC26A2	1836	broad.mit.edu	37	chr5	149361167	149361167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacacactgaaagaagttCgcagagattatgaagccatt	8	9	0	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:149361167C>T	uc003lrh.2	+	3	2279	c.2011C>T	c.(2011-2013)CGC>TGC	p.R671C		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	671	Cytoplasmic (Potential).|STAS.					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAAAGAAGTTCGCAGAGATTA	0.448													T	149361167	C	T	149361167	3	4	180	1	0	0	0	0	1	0	0	0	14517	884	31	1	2017	1	SLC26A2	5	149361167	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	8587278	149361167	31554093	106	96637											
ZNF300	91975	broad.mit.edu	37	chr5	150278009	150278009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattgagaccaggtggctGtagttctccagcatcacatc	9	13	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:150278009G>A	uc003lsy.1	-	4	390	c.123C>T	c.(121-123)TAC>TAT	p.Y41Y	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTGGCTGTAGTTCTCCA	0.483													A	150278009	G	A	150278009	2	1	180	1	0	0	0	0	0	0	0	1	17828	1372	48	4		4	ZNF300	5	150278009	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	916842	150278009	30637251	107	96638											
NKX2-5	1482	broad.mit.edu	37	chr5	172659803	172659803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggtaggcgttataaccGtagggattgaggcccacgcc	16	10	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:172659803G>A	uc003mcm.1	-	2	920	c.744C>T	c.(742-744)TAC>TAT	p.Y248Y		NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	248	Ala/Pro-rich.		Y -> H (in ASD-AVCD; somatic mutation).		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			central_nervous_system(1)	1	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)			CGTTATAACCGTAGGGATTGA	0.706													A	172659803	G	A	172659803	2	1	180	1	0	0	0	0	0	0	0	1	10453	1140	40	1		1	NKX2-5	5	172659803	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	22381794	172659803	8255457	108	96639											
PDLIM7	9260	broad.mit.edu	37	chr5	176919639	176919639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcacccagtcacccaCggccactccggcctgcgccg	10	21	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:176919639C>T	uc003mhc.1	-	3	221	c.136G>A	c.(136-138)GTG>ATG	p.V46M	PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhb.1_Missense_Mutation_p.V46M|PDLIM7_uc003mhd.1_Translation_Start_Site|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.V46M|PDLIM7_uc003mhg.1_Missense_Mutation_p.V46M	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	46	PDZ.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	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)			CAGTCACCCACGGCCACTCCG	0.647													T	176919639	C	T	176919639	3	4	180	1	0	0	0	0	1	0	0	0	11684	536	19	1	1403	1	PDLIM7	5	176919639	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4259836	176919639	3995621	109	96640											
ZNF454	285676	broad.mit.edu	37	chr5	178392727	178392727	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactggggaaaaaccttataCatgtaacatatgtgaaaaag	8	5	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr5:178392727C>G	uc003mjo.1	+	5	1593	c.1322C>G	c.(1321-1323)ACA>AGA	p.T441R	ZNF454_uc010jkz.1_Missense_Mutation_p.T441R	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	441	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAACCTTATACATGTAACATA	0.408													G	178392727	C	G	178392727	3	3	180	1	0	0	0	0	1	0	0	0	17920	478	17	5	1336	5	ZNF454	5	178392727	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1473088	178392727	2522533	110	96641											
NEDD9	4739	broad.mit.edu	37	chr6	11190446	11190446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgaagagggcctctgcGttggtgttgatggttgtggt	18	5	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:11190446G>A	uc003mzv.2	-	5	1823	c.1656C>T	c.(1654-1656)AAC>AAT	p.N552N	NEDD9_uc010joz.2_Silent_p.N552N|NEDD9_uc003mzw.3_Silent_p.N406N	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	552					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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGGCCTCTGCGTTGGTGTTGA	0.587													A	11190446	G	A	11190446	2	1	180	1	0	0	0	0	0	0	0	1	10313	1136	40	1		1	NEDD9	6	11190446	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08		11190446	159924621	111	96642											
GFOD1	54438	broad.mit.edu	37	chr6	13486905	13486905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctgtctggtgaggggcGgcggcaggttaatgcacacc	16	10	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:13486905G>A	uc003nat.1	-	1	883	c.218C>T	c.(217-219)CCG>CTG	p.P73L	GFOD1_uc003nas.1_5'Flank|C6orf114_uc003nav.2_5'Flank	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	73						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGTGAGGGGCGGCGGCAGGTT	0.592													A	13486905	G	A	13486905	3	1	180	1	0	0	0	0	1	0	0	0	6343	1116	39	1	962	1	GFOD1	6	13486905	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2296459	13486905	157628162	112	96643											
ZNF192	7745	broad.mit.edu	37	chr6	28121369	28121369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaccctatgaatgtaaTgagtgtgggaaagctttcag	13	5	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:28121369T>G	uc003nkn.1	+	6	1495	c.1311T>G	c.(1309-1311)AAT>AAG	p.N437K	ZNF192_uc010jqx.1_Missense_Mutation_p.N437K|ZNF192_uc010jqy.1_Missense_Mutation_p.N250K|ZNF192_uc011dkz.1_Missense_Mutation_p.N250K	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	437	C2H2-type 5.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATGAATGTAATGAGTGTGGGA	0.488													G	28121369	T	G	28121369	3	3	180	1	0	0	0	0	1	0	0	0	17753	1461	51	5	1329	5	ZNF192	6	28121369	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	14634464	28121369	142993698	113	96644											
GABBR1	2550	broad.mit.edu	37	chr6	29581206	29581206	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctcctggaagcctcctgtCtcctcagggtgtcttttcag	10	14	4	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:29581206C>A	uc003nmt.3	-	12	1716	c.1380G>T	c.(1378-1380)GAG>GAT	p.E460D	GABBR1_uc003nmp.3_Missense_Mutation_p.E343D|GABBR1_uc003nms.3_Missense_Mutation_p.E343D|GABBR1_uc003nmu.3_Missense_Mutation_p.E398D|GABBR1_uc011dlr.1_Missense_Mutation_p.E283D|GABBR1_uc011dls.1_Missense_Mutation_p.E460D	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	460	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	AGCCTCCTGTCTCCTCAGGGT	0.537													A	29581206	C	A	29581206	3	1	180	1	0	0	0	0	1	0	0	0	6155	912	32	5	1553	5	GABBR1	6	29581206	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1459837	29581206	141533861	114	96645											
KIFC1	3833	broad.mit.edu	37	chr6	33366122	33366122	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccacatcccacccaagagttCcatccctcactacagtgcca	4	19	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:33366122C>G	uc003oef.3	+	3	658	c.208C>G	c.(208-210)CCA>GCA	p.P70A	KIFC1_uc011drf.1_Missense_Mutation_p.P70A|uc011drg.1_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	70					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				0						CCCAAGAGTTCCATCCCTCAC	0.517													G	33366122	C	G	33366122	3	3	180	1	0	0	0	0	1	0	0	0	8312	855	30	5	218	5	KIFC1	6	33366122	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	3784916	33366122	137748945	115	96646											
MOCS1	4337	broad.mit.edu	37	chr6	39893473	39893473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctctccacctgtgagccGgatcttgtcgatgccttcct	10	15	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:39893473G>A	uc003opb.2	-	2	505	c.367C>T	c.(367-369)CGG>TGG	p.R123W	MOCS1_uc003opa.2_Missense_Mutation_p.R123W|MOCS1_uc003opc.2_Missense_Mutation_p.R123W|MOCS1_uc003opd.2_Missense_Mutation_p.R123W|MOCS1_uc003ope.2_Missense_Mutation_p.R36W	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	123	Molybdenum cofactor biosynthesis protein A.	GTP (By similarity).	R -> W (in MOCOD type A).		Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTGTGAGCCGGATCTTGTCG	0.622													A	39893473	G	A	39893473	3	1	180	1	0	0	0	0	1	0	0	0	9690	1115	39	1	822	1	MOCS1	6	39893473	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	6527351	39893473	131221594	116	96647											
TFAP2D	83741	broad.mit.edu	37	chr6	50682950	50682950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactccaccaccggcaccgAgtttgcgtccccctacttct	6	18	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:50682950A>C	uc003paf.2	+	2	673	c.161A>C	c.(160-162)GAG>GCG	p.E54A	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	54							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					ACCGGCACCGAGTTTGCGTCC	0.572													C	50682950	A	C	50682950	3	2	180	1	0	0	0	0	1	0	0	0	15787	304	11	5	167	5	TFAP2D	6	50682950	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	10789477	50682950	120432117	117	96648											
PKHD1	5314	broad.mit.edu	37	chr6	51612590	51612590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaacatcctaccttgaAgtttcatgattcctgaaatt	4	8	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:51612590A>G	uc003pah.1	-	58	10100	c.9824T>C	c.(9823-9825)CTT>CCT	p.L3275P	PKHD1_uc010jzn.1_Missense_Mutation_p.L1258P|PKHD1_uc003pai.2_Missense_Mutation_p.L3275P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3275	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CCTACCTTGAAGTTTCATGAT	0.373													G	51612590	A	G	51612590	3	3	180	1	0	0	0	0	1	0	0	0	11971	72	3	3	2479	3	PKHD1	6	51612590	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	929640	51612590	119502477	118	96649											
BAI3	577	broad.mit.edu	37	chr6	69349123	69349123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcagaaaatgggagaAcagaatcatgtgggatcatg	11	4	3	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:69349123A>G	uc003pev.3	+	3	1004	c.556A>G	c.(556-558)ACA>GCA	p.T186A	BAI3_uc010kak.2_Missense_Mutation_p.T186A	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	186	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AAATGGGAGAACAGAATCATG	0.433													G	69349123	A	G	69349123	3	3	180	1	0	0	0	0	1	0	0	0	1300	43	2	3	558	3	BAI3	6	69349123	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	17736533	69349123	101765944	119	96650											
OGFRL1	79627	broad.mit.edu	37	chr6	72011425	72011426	+	Frame_Shift_Ins	INS	-	-	A													acagtcaaacttctatgcacINSaaaaaagccaaggactccaa							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:72011425_72011426insA	uc003pfx.1	+	7	1192_1193	c.1029_1030insA	c.(1027-1032)CACAAAfs	p.H343fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	343_344						membrane	receptor activity				0						CTTCTATGCACAAAAAAGCCAA	0.455													A	72011426	-	A	72011425	7	5	180	1	0	1	1	0	0	0	0	0	10844	477	17	0	1055	0	OGFRL1	6	72011425	Frame_Shift_Ins	INS	-	TCGA-CG-4469-01A-01D-1158-08	2662302	72011425	99103642	120	96651	482	2									
OGFRL1	79627	broad.mit.edu	37	chr6	72011426	72011427	+	Frame_Shift_Ins	INS	-	-	A													cagtcaaacttctatgcacaINSaaaaagccaaggactccaaa							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:72011425_72011426C>CA	uc003pfx.1	+	6	1192_1193	c.1029_1030C>CA	c.(1027-1032)cacaaafs	p.H343fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	343						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CTTCTATGCACAAAAAAGCCAA	0.455													A	72011427	-	A	72011426	7	5	180	1	0	1	1	0	0	0	0	0	10844	131	5	0	1056	0	OGFRL1	6	72011426	Frame_Shift_Ins	INS	-	TCGA-CG-4469-01A-01D-1158-08	1	72011426	99103641	121	96652	482	2									
RIMS1	22999	broad.mit.edu	37	chr6	72806819	72806819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctattgtcgcactaAgttctgtgcgcgctgcggag	12	12	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:72806819A>C	uc003pga.2	+	3	490	c.413A>C	c.(412-414)AAG>ACG	p.K138T		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	138	RabBD.|FYVE-type.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGTCGCACTAAGTTCTGTGCG	0.493													C	72806819	A	C	72806819	3	2	180	1	0	0	0	0	1	0	0	0	13367	72	3	5	423	5	RIMS1	6	72806819	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	795393	72806819	98308248	122	96653											
SPACA1	81833	broad.mit.edu	37	chr6	88767403	88767404	+	Nonsense_Mutation	DNP	AG	AG	CT													aagtgtgttgtacgggtagaAgaatgccgtggaccaacaga							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:88767403_88767404AG>CT	uc003pmn.2	+	3	456_457	c.339_340AG>CT	c.(337-342)GAAGAA>GACTAA	p.113_114EE>D*		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	113_114	Extracellular (Potential).					integral to membrane					0		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)		TACGGGTAGAAGAATGCCGTGG	0.406													CT	88767404	AG	CT	88767403	4	2	180	1	0	0	0	0	0	1	0	0	14972	69	3	5	349	5	SPACA1	6	88767403	Nonsense_Mutation	DNP	AG	TCGA-CG-4469-01A-01D-1158-08	15960584	88767403	82347664	123	96654											
FHL5	9457	broad.mit.edu	37	chr6	97058456	97058456	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttggcaggtgataacTtcaggtgggataacattttg	13	5	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:97058456T>G	uc003pos.1	+	6	918	c.513T>G	c.(511-513)ACT>ACG	p.T171T	FHL5_uc003pot.1_Silent_p.T171T	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	171	LIM zinc-binding 3.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGGTGATAACTTCAGGTGGGA	0.423													G	97058456	T	G	97058456	2	3	180	1	0	0	0	0	0	0	0	1	5881	1596	56	5		5	FHL5	6	97058456	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	8291053	97058456	74056611	124	96655											
GPRC6A	222545	broad.mit.edu	37	chr6	117127831	117127831	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgactgtcactgggaAgcaagtgcagattttgaaga	13	5	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:117127831A>C	uc003pxj.1	-	3	1059	c.1037T>G	c.(1036-1038)CTT>CGT	p.L346R	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.L346R	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	346	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		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)		GTCACTGGGAAGCAAGTGCAG	0.383													C	117127831	A	C	117127831	3	2	180	1	0	0	0	0	1	0	0	0	6728	72	3	5	1759	5	GPRC6A	6	117127831	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	20069375	117127831	53987236	125	96656											
ROS1	6098	broad.mit.edu	37	chr6	117724426	117724426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcttgaccacataggaCggtctggacacagtctagat	13	9	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:117724426C>T	uc003pxp.1	-	6	652	c.453G>A	c.(451-453)CCG>CCA	p.P151P	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	151	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		CCACATAGGACGGTCTGGACA	0.473			T	GOPC|ROS1	glioblastoma|NSCLC								T	117724426	C	T	117724426	2	4	180	1	0	0	0	0	0	0	0	1	13531	523	19	1		1	ROS1	6	117724426	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	596595	117724426	53390641	126	96657											
C6orf204	387119	broad.mit.edu	37	chr6	118813011	118813011	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatggtgtctggagtgaAgtgttctcatattgtggctg	14	4	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:118813011A>C	uc003pxz.1	-	6	1863	c.1275T>G	c.(1273-1275)ACT>ACG	p.T425T	C6orf204_uc003pya.1_Silent_p.T428T|C6orf204_uc003pyb.2_Silent_p.T425T|C6orf204_uc011ebj.1_Silent_p.T323T|C6orf204_uc003pyc.2_Silent_p.T428T	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	425						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TCTGGAGTGAAGTGTTCTCAT	0.333													C	118813011	A	C	118813011	2	2	180	1	0	0	0	0	0	0	0	1	2353	59	3	5		5	C6orf204	6	118813011	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1088585	118813011	52302056	127	96658											
NKAIN2	154215	broad.mit.edu	37	chr6	124979358	124979358	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccttatcctgacttttaaTatatcaatgcaccgatcttg	5	10	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:124979358T>A	uc003pzo.2	+	4	577	c.300T>A	c.(298-300)AAT>AAA	p.N100K	NKAIN2_uc003pzn.1_Missense_Mutation_p.N100K|NKAIN2_uc003pzp.2_Missense_Mutation_p.N99K|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.N10K	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	100						integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		TGACTTTTAATATATCAATGC	0.453													A	124979358	T	A	124979358	3	1	180	1	0	0	0	0	1	0	0	0	10436	1403	49	5	314	5	NKAIN2	6	124979358	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	6166347	124979358	46135709	128	96659											
MOXD1	26002	broad.mit.edu	37	chr6	132722354	132722354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgacgatgtcggcggacGccatggccccggtgggcgag	17	14	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:132722354G>A	uc003qdf.2	-	1	311	c.212C>T	c.(211-213)GCG>GTG	p.A71V		NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	71	Lumenal (Potential).|DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTCGGCGGACGCCATGGCCCC	0.751													A	132722354	G	A	132722354	3	1	180	1	0	0	0	0	1	0	0	0	9720	1087	38	1	1677	1	MOXD1	6	132722354	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	7742996	132722354	38392713	129	96660											
TAAR9	134860	broad.mit.edu	37	chr6	132859575	132859575	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctggcagcgtttggAaacttactggtcatgattgc	13	8	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:132859575A>G	uc011eci.1	+	1	149	c.147A>G	c.(145-147)GGA>GGG	p.G49G		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9	49	Helical; Name=1; (Potential).					plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CAGCGTTTGGAAACTTACTGG	0.498													G	132859575	A	G	132859575	2	3	180	1	0	0	0	0	0	0	0	1	15491	233	9	3		3	TAAR9	6	132859575	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	137221	132859575	38255492	130	96661											
MYCT1	80177	broad.mit.edu	37	chr6	153019200	153019200	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatggctaataacacaacaAgtttagggagtccatggcca	9	8	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:153019200A>C	uc003qpd.3	+	1	171	c.163A>C	c.(163-165)AGT>CGT	p.S55R	MYCT1_uc010kjc.1_Missense_Mutation_p.S55R|MYCT1_uc003qpc.3_Missense_Mutation_p.S55R	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	55						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TAACACAACAAGTTTAGGGAG	0.313													C	153019200	A	C	153019200	3	2	180	1	0	0	0	0	1	0	0	0	10022	72	3	5	165	5	MYCT1	6	153019200	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	20159625	153019200	18095867	131	96662											
FRMD1	79981	broad.mit.edu	37	chr6	168465674	168465674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcttcctcccggtgagcGcactgtgacctcagcacgcg	12	15	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr6:168465674G>A	uc003qwo.3	-	5	590	c.525C>T	c.(523-525)TGC>TGT	p.C175C	FRMD1_uc003qwm.3_5'UTR|FRMD1_uc011egs.1_5'UTR|FRMD1_uc011egt.1_Silent_p.C87C|FRMD1_uc003qwn.3_Silent_p.C107C	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	175	FERM.					cytoskeleton	binding			ovary(1)	1		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)		CCCGGTGAGCGCACTGTGACC	0.667													A	168465674	G	A	168465674	2	1	180	1	0	0	0	0	0	0	0	1	6049	1079	38	1		1	FRMD1	6	168465674	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	15446474	168465674	2649393	132	96663											
ZDHHC4	55146	broad.mit.edu	37	chr7	6620230	6620230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcttgttctacctggcttCggtgctgatgggtcttgttc	11	10	3	1	rs145005587		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:6620230C>T	uc003sqi.2	+	4	396	c.38C>T	c.(37-39)TCG>TTG	p.S13L	ZDHHC4_uc003sqg.2_Missense_Mutation_p.S13L|ZDHHC4_uc003sql.2_Missense_Mutation_p.S13L|ZDHHC4_uc003sqh.2_Missense_Mutation_p.S13L|ZDHHC4_uc003sqj.2_Missense_Mutation_p.S13L|ZDHHC4_uc003sqk.2_Missense_Mutation_p.S13L|ZDHHC4_uc003sqm.2_Missense_Mutation_p.S13L	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	13	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TACCTGGCTTCGGTGCTGATG	0.502													T	6620230	C	T	6620230	3	4	180	1	0	0	0	0	1	0	0	0	17614	893	31	1	40	1	ZDHHC4	7	6620230	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08		6620230	152518433	133	96664											
ZDHHC4	55146	broad.mit.edu	37	chr7	6621869	6621869	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttcaccctgacttgTggaaccaatcctggtaagtt	7	9	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:6621869T>A	uc003sqi.2	+	6	715	c.357T>A	c.(355-357)TGT>TGA	p.C119*	ZDHHC4_uc003sqg.2_Nonsense_Mutation_p.C119*|ZDHHC4_uc003sql.2_Nonsense_Mutation_p.C119*|ZDHHC4_uc003sqh.2_Nonsense_Mutation_p.C119*|ZDHHC4_uc003sqj.2_Nonsense_Mutation_p.C119*|ZDHHC4_uc003sqk.2_Nonsense_Mutation_p.C119*|ZDHHC4_uc003sqm.2_Nonsense_Mutation_p.C119*	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	119	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CCCTGACTTGTGGAACCAATC	0.483													A	6621869	T	A	6621869	4	1	180	1	0	0	0	0	0	1	0	0	17614	1702	59	5	367	5	ZDHHC4	7	6621869	Nonsense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1639	6621869	152516794	134	96665											
DNAH11	8701	broad.mit.edu	37	chr7	21788356	21788356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctatggaatccaggaacTtcgggtgagtcaaggggaca	16	7	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:21788356T>G	uc003svc.2	+	53	8721	c.8690T>G	c.(8689-8691)CTT>CGT	p.L2897R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2897	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ATCCAGGAACTTCGGGTGAGT	0.577									Kartagener_syndrome				G	21788356	T	G	21788356	3	3	180	1	0	0	0	0	1	0	0	0	4599	1609	56	5	8897	5	DNAH11	7	21788356	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	15166487	21788356	137350307	135	96666											
ELMO1	9844	broad.mit.edu	37	chr7	37252941	37252941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccaatgagcactcaccTggtcctgggggtccattttg	11	12	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:37252941T>C	uc003tfk.1	-	12	1260	c.953A>G	c.(952-954)CAG>CGG	p.Q318R	ELMO1_uc011kbc.1_Missense_Mutation_p.Q222R|ELMO1_uc010kxg.1_Missense_Mutation_p.Q318R	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	318					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						AGCACTCACCTGGTCCTGGGG	0.473													C	37252941	T	C	37252941	3	2	180	1	0	0	0	0	1	0	0	0	5065	1594	55	3	1274	3	ELMO1	7	37252941	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	15464585	37252941	121885722	136	96667											
LIMK1	3984	broad.mit.edu	37	chr7	73530167	73530167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctgacttcgggctggcGcgtctcatggtggacgagaa	17	9	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:73530167G>A	uc003uaa.1	+	13	1611	c.1446G>A	c.(1444-1446)GCG>GCA	p.A482A	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.A448A	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	482	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				TCGGGCTGGCGCGTCTCATGG	0.627													A	73530167	G	A	73530167	2	1	180	1	0	0	0	0	0	0	0	1	8801	1074	38	1		1	LIMK1	7	73530167	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	36277226	73530167	85608496	137	96668											
HGF	3082	broad.mit.edu	37	chr7	81388112	81388112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttgctttatcaaaaAcaaaagccctgaaaaaaata	4	7	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:81388112A>C	uc003uhl.2	-	3	428	c.263T>G	c.(262-264)GTT>GGT	p.V88G	HGF_uc003uhm.2_Missense_Mutation_p.V88G|HGF_uc003uhn.1_Missense_Mutation_p.V88G|HGF_uc003uho.1_Missense_Mutation_p.V88G|HGF_uc003uhp.2_Missense_Mutation_p.V88G	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	88	PAN.				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			ovary(2)|central_nervous_system(2)	4						TTTATCAAAAACAAAAGCCCT	0.338													C	81388112	A	C	81388112	3	2	180	1	0	0	0	0	1	0	0	0	7085	43	2	5	2007	5	HGF	7	81388112	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	7857945	81388112	77750551	138	96669											
PCLO	27445	broad.mit.edu	37	chr7	82764520	82764520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcttgtgactgtacTttggagcttggaatatcagg	11	7	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:82764520T>G	uc003uhx.2	-	3	2635	c.2346A>C	c.(2344-2346)AAA>AAC	p.K782N	PCLO_uc003uhv.2_Missense_Mutation_p.K782N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	728	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTGACTGTACTTTGGAGCTTG	0.443													G	82764520	T	G	82764520	3	3	180	1	0	0	0	0	1	0	0	0	11583	1606	56	5	13191	5	PCLO	7	82764520	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1376408	82764520	76374143	139	96670											
PCLO	27445	broad.mit.edu	37	chr7	82784942	82784942	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgagccaatggctttgTtagccctgagggctgagctg	14	8	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:82784942T>G	uc003uhx.2	-	2	1304	c.1015A>C	c.(1015-1017)ACA>CCA	p.T339P	PCLO_uc003uhv.2_Missense_Mutation_p.T339P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATGGCTTTGTTAGCCCTGAG	0.567													G	82784942	T	G	82784942	3	3	180	1	0	0	0	0	1	0	0	0	11583	1725	60	5	14526	5	PCLO	7	82784942	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	20422	82784942	76353721	140	96671											
ABCB4	5244	broad.mit.edu	37	chr7	87069058	87069058	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcctcatccagcagaaggatCttggggttgcgaaccagggc	14	11	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:87069058C>G	uc003uiv.1	-	14	1732	c.1656G>C	c.(1654-1656)AAG>AAC	p.K552N	ABCB4_uc003uiw.1_Missense_Mutation_p.K552N|ABCB4_uc003uix.1_Missense_Mutation_p.K552N	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	552	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCAGAAGGATCTTGGGGTTGC	0.537													G	87069058	C	G	87069058	3	3	180	1	0	0	0	0	1	0	0	0	43	912	32	5	2264	5	ABCB4	7	87069058	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4284116	87069058	72069605	141	96672											
ZNF804B	219578	broad.mit.edu	37	chr7	88963642	88963642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccacgttcaaagcaAggatggccacaccactcttc	6	14	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:88963642A>C	uc011khi.1	+	4	1884	c.1346A>C	c.(1345-1347)AAG>ACG	p.K449T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	449						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTTCAAAGCAAGGATGGCCAC	0.398										HNSCC(36;0.09)			C	88963642	A	C	88963642	3	2	180	1	0	0	0	0	1	0	0	0	18168	72	3	5	1360	5	ZNF804B	7	88963642	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1894584	88963642	70175021	142	96673											
SH2B2	10603	broad.mit.edu	37	chr7	101943868	101943868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggccccgccgcagccGccccggtcccagtcccggtc	12	23	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:101943868G>A	uc011kko.1	+	2	208	c.163G>A	c.(163-165)GCC>ACC	p.A55T		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	12					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				0						cgccgcagccgccccggtccc	0.468													A	101943868	G	A	101943868	3	1	180	1	0	0	0	0	1	0	0	0	14228	1087	38	1	169	1	SH2B2	7	101943868	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	12980226	101943868	57194795	143	96674											
NRCAM	4897	broad.mit.edu	37	chr7	107820828	107820828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctttttctcaatgtgaCgtctgtttcttttagatgaa	8	6	4	3	rs151029926	byFrequency	TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:107820828C>T	uc003vfb.2	-	25	3161	c.2690G>A	c.(2689-2691)CGT>CAT	p.R897H	NRCAM_uc003vfc.2_Missense_Mutation_p.R881H|NRCAM_uc011kmk.1_Missense_Mutation_p.R892H|NRCAM_uc003vfd.2_Missense_Mutation_p.R873H|NRCAM_uc003vfe.2_Missense_Mutation_p.R873H	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	897	Fibronectin type-III 3.|Extracellular (Potential).				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			ovary(3)|breast(2)	5						CTCAATGTGACGTCTGTTTCT	0.448													T	107820828	C	T	107820828	3	4	180	1	0	0	0	0	1	0	0	0	10644	536	19	1	1290	1	NRCAM	7	107820828	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	5876960	107820828	51317835	144	96675											
PTPRZ1	5803	broad.mit.edu	37	chr7	121679542	121679542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactggcctgccgatgggaGtgaggagtacgggaactttc	16	8	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:121679542G>T	uc003vjy.2	+	20	5932	c.5537G>T	c.(5536-5538)AGT>ATT	p.S1846I	PTPRZ1_uc003vjz.2_Missense_Mutation_p.S979I|PTPRZ1_uc011knt.1_Missense_Mutation_p.S436I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1846	Cytoplasmic (Potential).|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			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						GCCGATGGGAGTGAGGAGTAC	0.388													T	121679542	G	T	121679542	3	4	180	1	0	0	0	0	1	0	0	0	12814	1029	36	5	5615	5	PTPRZ1	7	121679542	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	13858714	121679542	37459121	145	96676											
OR2F2	135948	broad.mit.edu	37	chr7	143632690	143632690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgatggcctatgaccGccatgtggctgtgtctgacc	14	11	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:143632690G>A	uc011ktv.1	+	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					GCCTATGACCGCCATGTGGCT	0.557													A	143632690	G	A	143632690	3	1	180	1	0	0	0	0	1	0	0	0	10997	1087	38	1	367	1	OR2F2	7	143632690	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	21953148	143632690	15505973	146	96677											
ZNF398	57541	broad.mit.edu	37	chr7	148876789	148876789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccacccaacccaccaGgtcccctcataactgggctt	7	18	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:148876789G>T	uc003wfl.2	+	6	2100	c.1825G>T	c.(1825-1827)GGT>TGT	p.G609C	ZNF398_uc011kul.1_Missense_Mutation_p.G438C|ZNF398_uc011kum.1_Missense_Mutation_p.G614C	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	609					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAACCCACCAGGTCCCCTCAT	0.562													T	148876789	G	T	148876789	3	4	180	1	0	0	0	0	1	0	0	0	17882	1000	35	5	1847	5	ZNF398	7	148876789	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	5244099	148876789	10261874	147	96678											
KCNH2	3757	broad.mit.edu	37	chr7	150648916	150648916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgcagtcttcagcagcCcgatcagctgggggacaggg	16	13	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:150648916C>T	uc003wic.2	-	7	1578	c.1565G>A	c.(1564-1566)GGG>GAG	p.G522E	KCNH2_uc003wib.2_Missense_Mutation_p.G182E|KCNH2_uc011kux.1_Missense_Mutation_p.G426E|KCNH2_uc003wid.2_Missense_Mutation_p.G182E|KCNH2_uc003wie.2_Missense_Mutation_p.G522E	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	522	Helical; Voltage-sensor; Name=Segment S4; (Potential).				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			skin(3)|ovary(1)	4	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)	CTTCAGCAGCCCGATCAGCTG	0.672													T	150648916	C	T	150648916	3	4	180	1	0	0	0	0	1	0	0	0	8032	623	22	4	2219	4	KCNH2	7	150648916	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1772127	150648916	8489747	148	96679											
GALNT11	63917	broad.mit.edu	37	chr7	151810363	151810363	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcggtaagctcttcatcatCccttgctctagagtaggaca	10	11	4	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr7:151810363C>T	uc010lqg.1	+	8	1343	c.1113C>T	c.(1111-1113)ATC>ATT	p.I371I	GALNT11_uc011kvm.1_Silent_p.I290I|GALNT11_uc003wku.2_Silent_p.I371I|GALNT11_uc003wkw.1_Silent_p.I119I	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	371	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	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)		TCTTCATCATCCCTTGCTCTA	0.473													T	151810363	C	T	151810363	2	4	180	1	0	0	0	0	0	0	0	1	6209	845	30	4		4	GALNT11	7	151810363	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1161447	151810363	7328300	149	96680											
ZNF596	169270	broad.mit.edu	37	chr8	192905	192905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggattccatgaccttcgagGatatcattgtagacttcact	8	9	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:192905G>A	uc003wot.2	+	3	319	c.31G>A	c.(31-33)GAT>AAT	p.D11N	ZNF596_uc003wou.2_5'UTR|ZNF596_uc003wov.2_Missense_Mutation_p.D11N|ZNF596_uc003wow.2_Missense_Mutation_p.D11N	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GACCTTCGAGGATATCATTGT	0.438													A	192905	G	A	192905	3	1	180	1	0	0	0	0	1	0	0	0	18023	1174	41	4	37	4	ZNF596	8	192905	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08		192905	146171117	150	96681											
CSMD1	64478	broad.mit.edu	37	chr8	2796225	2796225	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgtccattgctgtttTcatgcccagcatagccattg	8	11	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:2796225T>A	uc011kwk.1	-	70	10970	c.10580A>T	c.(10579-10581)GAA>GTA	p.E3527V	CSMD1_uc011kwj.1_Missense_Mutation_p.E2841V|CSMD1_uc010lrg.2_Missense_Mutation_p.E1418V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3527	Cytoplasmic (Potential).					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)		ATTGCTGTTTTCATGCCCAGC	0.398													A	2796225	T	A	2796225	3	1	180	1	0	0	0	0	1	0	0	0	3944	1783	62	5	121	5	CSMD1	8	2796225	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	2603320	2796225	143567797	151	96682											
CSMD1	64478	broad.mit.edu	37	chr8	2832075	2832075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaggagtagtgcacgaCggcgccataggtaaacagct	13	10	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:2832075C>T	uc011kwk.1	-	56	9031	c.8641G>A	c.(8641-8643)GTC>ATC	p.V2881I	CSMD1_uc011kwj.1_Missense_Mutation_p.V2210I|CSMD1_uc010lrg.2_Missense_Mutation_p.V891I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2881	Sushi 21.|Extracellular (Potential).					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)		TAGTGCACGACGGCGCCATAG	0.562													T	2832075	C	T	2832075	3	4	180	1	0	0	0	0	1	0	0	0	3944	536	19	1	2116	1	CSMD1	8	2832075	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	35850	2832075	143531947	152	96683											
CSMD1	64478	broad.mit.edu	37	chr8	2944709	2944709	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgaccattcggtatcCaggcttgcaaaaataatgca	10	10	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:2944709C>G	uc011kwk.1	-	49	7777	c.7387G>C	c.(7387-7389)GGA>CGA	p.G2463R	CSMD1_uc011kwj.1_Missense_Mutation_p.G1792R|CSMD1_uc010lrg.2_Missense_Mutation_p.G531R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2463	Sushi 14.|Extracellular (Potential).					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)		ATTCGGTATCCAGGCTTGCAA	0.522													G	2944709	C	G	2944709	3	3	180	1	0	0	0	0	1	0	0	0	3944	603	21	5	3398	5	CSMD1	8	2944709	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	112634	2944709	143419313	153	96684											
CSMD1	64478	broad.mit.edu	37	chr8	3038632	3038632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaaagagttgaccttacTtttgtattccaggtggaaac	9	7	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:3038632T>G	uc011kwk.1	-	37	6118	c.5728A>C	c.(5728-5730)ACT>CCT	p.T1910P	CSMD1_uc011kwj.1_Missense_Mutation_p.T1302P|CSMD1_uc003wqe.2_Missense_Mutation_p.T1066P|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1910	Extracellular (Potential).|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)		TTGACCTTACTTTTGTATTCC	0.378													G	3038632	T	G	3038632	3	3	180	1	0	0	0	0	1	0	0	0	3944	1623	56	5	5105	5	CSMD1	8	3038632	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	93923	3038632	143325390	154	96685											
CSMD1	64478	broad.mit.edu	37	chr8	3253782	3253782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacagcaggtacatgaAgttcccggtgctgatgagga	15	7	0	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:3253782A>C	uc011kwk.1	-	17	2920	c.2530T>G	c.(2530-2532)TTC>GTC	p.F844V	CSMD1_uc011kwj.1_Missense_Mutation_p.F236V|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	844	Extracellular (Potential).|CUB 5.					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)		AGGTACATGAAGTTCCCGGTG	0.597													C	3253782	A	C	3253782	3	2	180	1	0	0	0	0	1	0	0	0	3944	72	3	5	8383	5	CSMD1	8	3253782	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	215150	3253782	143110240	155	96686											
CSMD1	64478	broad.mit.edu	37	chr8	3855488	3855488	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttcttctagctgaaagTcagtgaagaccagcgcaatg	9	10	3	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:3855488T>G	uc011kwk.1	-	5	1145	c.755A>C	c.(754-756)GAC>GCC	p.D252A		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	252	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAGCTGAAAGTCAGTGAAGAC	0.527													G	3855488	T	G	3855488	3	3	180	1	0	0	0	0	1	0	0	0	3944	1667	58	5	10016	5	CSMD1	8	3855488	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	601706	3855488	142508534	156	96687											
SLC25A37	51312	broad.mit.edu	37	chr8	23429191	23429192	+	Missense_Mutation	DNP	GG	GG	AT													aacatcagcggccggctgtcGggtatggccaatgccttccg							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:23429191_23429192GG>AT	uc003xdo.2	+	4	993_994	c.840_841GG>AT	c.(838-843)TCGGGT>TCATGT	p.G281C	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	281	Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GCCGGCTGTCGGGTATGGCCAA	0.649													AT	23429192	GG	AT	23429191	3	1	180	1	0	0	0	0	1	0	0	0	14501	1103	39	1	854	1	SLC25A37	8	23429191	Missense_Mutation	DNP	GG	TCGA-CG-4469-01A-01D-1158-08	19573703	23429191	122934831	157	96688											
EFCAB1	79645	broad.mit.edu	37	chr8	49644049	49644049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctttataagacagttcacTtcaaatttattaactgaaat	4	6	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:49644049T>G	uc003xqo.2	-	2	232	c.72A>C	c.(70-72)GAA>GAC	p.E24D	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	24							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				GACAGTTCACTTCAAATTTAT	0.318													G	49644049	T	G	49644049	3	3	180	1	0	0	0	0	1	0	0	0	4933	1606	56	5	583	5	EFCAB1	8	49644049	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	26214858	49644049	96719973	158	96689											
TRPA1	8989	broad.mit.edu	37	chr8	72938301	72938301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctaagctggtatgaAgttccacctaaagtgcattt	7	9	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:72938301A>C	uc003xza.2	-	25	3120	c.2945T>G	c.(2944-2946)CTT>CGT	p.L982R	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	982	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GCTGGTATGAAGTTCCACCTA	0.383													C	72938301	A	C	72938301	3	2	180	1	0	0	0	0	1	0	0	0	16574	72	3	5	426	5	TRPA1	8	72938301	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	23294252	72938301	73425721	159	96690											
KCNB2	9312	broad.mit.edu	37	chr8	73480233	73480233	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaacgagaacgagtatttCtttgatcggcatccaggagc	11	9	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:73480233C>A	uc003xzb.2	+	2	852	c.264C>A	c.(262-264)TTC>TTA	p.F88L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	88	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ACGAGTATTTCTTTGATCGGC	0.507													A	73480233	C	A	73480233	3	1	180	1	0	0	0	0	1	0	0	0	8013	912	32	5	266	5	KCNB2	8	73480233	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	541932	73480233	72883789	160	96691											
TERF1	7013	broad.mit.edu	37	chr8	73921176	73921176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggctgtgcggatggtAgggatgccgaccctactgag	18	10	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:73921176A>G	uc003xzd.2	+	1	80	c.55A>G	c.(55-57)AGG>GGG	p.R19G	TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.R19G	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	19	Asp/Glu-rich (acidic).				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 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			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			TGCGGATGGTAGGGATGCCGA	0.622													G	73921176	A	G	73921176	3	3	180	1	0	0	0	0	1	0	0	0	15758	411	15	3	57	3	TERF1	8	73921176	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	440943	73921176	72442846	161	96692											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:104898096T>G	uc003yls.2	+	2	844	c.603T>G	c.(601-603)TCT>TCG	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			G	104898096	T	G	104898096	2	3	180	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	104898096	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	30976920	104898096	41465926	162	96693											
LRP12	29967	broad.mit.edu	37	chr8	105503141	105503141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtctgaagatccatcAgaaattggaattagcatttc	7	7	3	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:105503141A>G	uc003yma.2	-	7	2435	c.2340T>C	c.(2338-2340)TCT>TCC	p.S780S	LRP12_uc003ymb.2_Silent_p.S761S|LRP12_uc003ylz.2_Silent_p.S186S	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	780	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAGATCCATCAGAAATTGGAA	0.408													G	105503141	A	G	105503141	2	3	180	1	0	0	0	0	0	0	0	1	8954	175	7	3		3	LRP12	8	105503141	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	605045	105503141	40860881	163	96694											
CSMD3	114788	broad.mit.edu	37	chr8	113301723	113301723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtatacttctcgccagAcaggactgcattaggaggaa	10	8	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:113301723A>G	uc003ynu.2	-	57	9178	c.9019T>C	c.(9019-9021)TCT>CCT	p.S3007P	CSMD3_uc003yns.2_Missense_Mutation_p.S2209P|CSMD3_uc003ynt.2_Missense_Mutation_p.S2967P|CSMD3_uc011lhx.1_Missense_Mutation_p.S2838P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3007	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTCTCGCCAGACAGGACTGCA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113301723	A	G	113301723	3	3	180	1	0	0	0	0	1	0	0	0	3946	275	10	3	2164	3	CSMD3	8	113301723	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	7798582	113301723	33062299	164	96695											
CSMD3	114788	broad.mit.edu	37	chr8	113678505	113678505	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggaaaaatatttgtgagaCctttcaaatgtaattttgat	7	3	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:113678505C>A	uc003ynu.2	-	17	2975	c.2816_splice	c.e17+1	p.R939_splice	CSMD3_uc003yns.2_Splice_Site_p.R211_splice|CSMD3_uc003ynt.2_Splice_Site_p.R899_splice|CSMD3_uc011lhx.1_Splice_Site_p.R835_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1							integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATTTGTGAGACCTTTCAAATG	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113678505	C	A	113678505	5	1	180	1	0	0	0	0	0	0	1	0	3946	521	18	5	8526	5	CSMD3	8	113678505	Splice_Site	SNP	C	TCGA-CG-4469-01A-01D-1158-08	376782	113678505	32685517	165	96696											
CSMD3	114788	broad.mit.edu	37	chr8	113812478	113812478	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctactcatgctcactatcaAgtctggtacaaagcttccag	7	12	4	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:113812478A>C	uc003ynu.2	-	13	2044	c.1885T>G	c.(1885-1887)TTG>GTG	p.L629V	CSMD3_uc003ynt.2_Missense_Mutation_p.L589V|CSMD3_uc011lhx.1_Missense_Mutation_p.L525V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	629	Extracellular (Potential).|CUB 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTCACTATCAAGTCTGGTACA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113812478	A	C	113812478	3	2	180	1	0	0	0	0	1	0	0	0	3946	69	3	5	9474	5	CSMD3	8	113812478	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	133973	113812478	32551544	166	96697											
WISP1	8840	broad.mit.edu	37	chr8	134232985	134232985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctggtgcccccacccgCggcgcgtgagcatacctggc	13	17	1	1	rs140971140		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:134232985C>T	uc003yub.2	+	3	587	c.511C>T	c.(511-513)CGG>TGG	p.R171W	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	171	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)|kidney(1)	2	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)			CCCCCACCCGCGGCGCGTGAG	0.672													T	134232985	C	T	134232985	3	4	180	1	0	0	0	0	1	0	0	0	17369	759	27	1	521	1	WISP1	8	134232985	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	20420507	134232985	12131037	167	96698											
KHDRBS3	10656	broad.mit.edu	37	chr8	136657345	136657345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatggactcagtgaggagActtatgattcctacggtgag	13	7	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr8:136657345A>G	uc003yuv.2	+	8	1328	c.934A>G	c.(934-936)ACT>GCT	p.T312A	KHDRBS3_uc003yuw.2_3'UTR|KHDRBS3_uc010mek.2_RNA	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	312	Tyr-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CAGTGAGGAGACTTATGATTC	0.433													G	136657345	A	G	136657345	3	3	180	1	0	0	0	0	1	0	0	0	8148	275	10	3	964	3	KHDRBS3	8	136657345	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	2424360	136657345	9706677	168	96699											
SH3GL2	6456	broad.mit.edu	37	chr9	17789403	17789403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagcatcatctaaagaAgttggagggtcgacgcctgg	13	8	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:17789403A>C	uc003zna.2	+	6	767	c.479A>C	c.(478-480)AAG>ACG	p.K160T	SH3GL2_uc011lmx.1_Missense_Mutation_p.K125T|SH3GL2_uc011lmy.1_Missense_Mutation_p.K113T	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	160	BAR.				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			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CATCTAAAGAAGTTGGAGGGT	0.428													C	17789403	A	C	17789403	3	2	180	1	0	0	0	0	1	0	0	0	14251	72	3	5	501	5	SH3GL2	9	17789403	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08		17789403	123424028	169	96700											
UBAP2	55833	broad.mit.edu	37	chr9	33922786	33922786	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcatagccaggggccgCtcccgaggccaggggcccag	18	14	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:33922786C>G	uc003ztq.1	-	28	3276	c.3163G>C	c.(3163-3165)GCG>CCG	p.A1055P	UBAP2_uc011loc.1_Missense_Mutation_p.A964P|UBAP2_uc011lod.1_Missense_Mutation_p.A788P|UBAP2_uc011loe.1_Missense_Mutation_p.A810P|UBAP2_uc003ztn.1_Missense_Mutation_p.A294P|UBAP2_uc003zto.1_Missense_Mutation_p.A294P|UBAP2_uc003ztp.1_Missense_Mutation_p.A294P	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	1055										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCAGGGGCCGCTCCCGAGGCC	0.632													G	33922786	C	G	33922786	3	3	180	1	0	0	0	0	1	0	0	0	16834	797	28	5	204	5	UBAP2	9	33922786	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	16133383	33922786	107290645	170	96701											
FBXO10	26267	broad.mit.edu	37	chr9	37541762	37541762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggggaggccaccagcctCcatggtcacctaggagacag	13	13	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:37541762C>T	uc004aab.2	-	2	53	c.4G>A	c.(4-6)GAG>AAG	p.E2K	FBXO10_uc004aac.2_Missense_Mutation_p.E18K|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	2	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CCACCAGCCTCCATGGTCACC	0.468													T	37541762	C	T	37541762	3	4	180	1	0	0	0	0	1	0	0	0	5726	864	30	4	2906	4	FBXO10	9	37541762	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	3618976	37541762	103671669	171	96702											
RORB	6096	broad.mit.edu	37	chr9	77282711	77282711	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcctttataggttcTgatgacctagtgaatgaagc	8	8	3	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:77282711T>C	uc004aji.2	+	8	1087	c.1038T>C	c.(1036-1038)TCT>TCC	p.S346S	RORB_uc004ajh.2_Silent_p.S335S	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	346	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						TTATAGGTTCTGATGACCTAG	0.373													C	77282711	T	C	77282711	2	2	180	1	0	0	0	0	0	0	0	1	13529	1567	55	3		3	RORB	9	77282711	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	39740949	77282711	63930720	172	96703											
ROR2	4920	broad.mit.edu	37	chr9	94493274	94493274	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatctggcctccgggGttccggcagtaggcgtgccc	13	17	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:94493274G>T	uc004arj.1	-	7	1300	c.1101C>A	c.(1099-1101)AAC>AAA	p.N367K	ROR2_uc004ari.1_Missense_Mutation_p.N227K|ROR2_uc004ark.2_Missense_Mutation_p.N367K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	367	Extracellular (Potential).|Kringle.				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GGCCTCCGGGGTTCCGGCAGT	0.612													T	94493274	G	T	94493274	3	4	180	1	0	0	0	0	1	0	0	0	13527	1252	44	5	1742	5	ROR2	9	94493274	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	17210563	94493274	46720157	173	96704											
KIAA1529	57653	broad.mit.edu	37	chr9	100085179	100085179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagacatggcaggagtgCctgatgcatgtgcagaattg	15	6	0	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:100085179C>T	uc011lut.1	+	24	2546	c.1773C>T	c.(1771-1773)TGC>TGT	p.C591C	KIAA1529_uc004axe.1_Silent_p.C591C|KIAA1529_uc004axg.1_Silent_p.C452C|KIAA1529_uc011lus.1_Silent_p.C409C|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Silent_p.C452C|KIAA1529_uc011luv.1_Silent_p.C449C	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GGCAGGAGTGCCTGATGCATG	0.552													T	100085179	C	T	100085179	2	4	180	1	0	0	0	0	0	0	0	1	8240	747	26	2		2	KIAA1529	9	100085179	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	5591905	100085179	41128252	174	96705											
XPA	7507	broad.mit.edu	37	chr9	100456040	100456040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttttacattagccatGcctacaaaagtaagtaaaag	7	8	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:100456040G>A	uc004axr.3	-	2	291	c.174C>T	c.(172-174)GGC>GGT	p.G58G	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	58	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				CATTAGCCATGCCTACAAAAG	0.343			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				A	100456040	G	A	100456040	2	1	180	1	0	0	0	0	0	0	0	1	17437	1333	46	2		2	XPA	9	100456040	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	370861	100456040	40757391	175	96706											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112705446	112705446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcgaggatgaagaggagaCgaaaaaggtgctaggctatg	15	4	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:112705446C>T	uc004bei.2	+	7	1169	c.977C>T	c.(976-978)ACG>ATG	p.T326M	PALM2_uc004bef.2_Missense_Mutation_p.T328M|PALM2_uc004beg.2_Missense_Mutation_p.T294M|PALM2_uc004beh.3_Missense_Mutation_p.T326M|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GAAGAGGAGACGAAAAAGGTG	0.507													T	112705446	C	T	112705446	3	4	180	1	0	0	0	0	1	0	0	0	11410	536	19	1		1	PALM2-AKAP2	9	112705446	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	12249406	112705446	28507985	176	96707											
ASTN2	23245	broad.mit.edu	37	chr9	119203072	119203072	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtagatcttgtcagctatttCtgagagggcagaagggcaga	14	6	3	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:119203072C>A	uc004bjs.1	-	22	3700	c.3599_splice	c.e22-1	p.E1200_splice	ASTN2_uc004bjr.1_Splice_Site_p.E1196_splice|ASTN2_uc004bjt.1_Splice_Site_p.E1149_splice|ASTN2_uc004bjp.1_Splice_Site_p.E293_splice|ASTN2_uc004bjq.1_Splice_Site_p.E252_splice|ASTN2_uc011lxr.1_Splice_Site_p.E252_splice|ASTN2_uc011lxs.1_Splice_Site_p.E252_splice|ASTN2_uc011lxt.1_Splice_Site_p.E252_splice|ASTN2_uc004bjo.1_Splice_Site	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c							integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCAGCTATTTCTGAGAGGGCA	0.398													A	119203072	C	A	119203072	5	1	180	1	0	0	0	0	0	0	1	0	1065	927	32	5	470	5	ASTN2	9	119203072	Splice_Site	SNP	C	TCGA-CG-4469-01A-01D-1158-08	6497626	119203072	22010359	177	96708											
TLR4	7099	broad.mit.edu	37	chr9	120475788	120475788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatactcacaccagagTtgctttcaatggcatcttca	5	12	5	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:120475788T>G	uc004bjz.2	+	3	1673	c.1382T>G	c.(1381-1383)GTT>GGT	p.V461G	TLR4_uc004bka.2_Missense_Mutation_p.V421G|TLR4_uc004bkb.2_Missense_Mutation_p.V261G	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	461	Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						CACACCAGAGTTGCTTTCAAT	0.398													G	120475788	T	G	120475788	3	3	180	1	0	0	0	0	1	0	0	0	15950	1725	60	5	1392	5	TLR4	9	120475788	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1272716	120475788	20737643	178	96709											
ANAPC2	29882	broad.mit.edu	37	chr9	140079432	140079432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtagaagaacctttgcacGtggcagcgccagcggcgcag	15	12	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr9:140079432G>A	uc004clr.1	-	4	1054	c.981C>T	c.(979-981)CAC>CAT	p.H327H	ANAPC2_uc004clq.1_Silent_p.H186H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	327					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			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACCTTTGCACGTGGCAGCGCC	0.701													A	140079432	G	A	140079432	2	1	180	1	0	0	0	0	0	0	0	1	603	1136	40	1		1	ANAPC2	9	140079432	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	19603644	140079432	1133999	179	96710											
GATA3	2625	broad.mit.edu	37	chr10	8115807	8115807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgactcactggaggacTtccccaagaacagctcgttt	9	12	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:8115807T>G	uc001ika.2	+	6	1710	c.1153T>G	c.(1153-1155)TTC>GTC	p.F385V	GATA3_uc001ijz.2_Missense_Mutation_p.F386V	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	385					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			breast(17)|ovary(3)|central_nervous_system(2)	22						ACTGGAGGACTTCCCCAAGAA	0.527			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						G	8115807	T	G	8115807	3	3	180	1	0	0	0	0	1	0	0	0	6255	1609	56	5	1174	5	GATA3	10	8115807	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08		8115807	127418940	180	96711											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431029	37431029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgagtcccgcaaaagaaAcatctgagaaatttacgtgg	9	7	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:37431029A>G	uc001iza.1	+	7	1135	c.1036A>G	c.(1036-1038)ACA>GCA	p.T346A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	402						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CGCAAAAGAAACATCTGAGAA	0.438													G	37431029	A	G	37431029	3	3	180	1	0	0	0	0	1	0	0	0	658	43	2	3	1062	3	ANKRD30A	10	37431029	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	29315222	37431029	98103718	181	96712											
ANKRD30A	91074	broad.mit.edu	37	chr10	37505290	37505290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagttagagaaccaaaaAgttaaatgggaacaagagct	9	6	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:37505290A>C	uc001iza.1	+	32	2982	c.2883A>C	c.(2881-2883)AAA>AAC	p.K961N		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1017	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAACCAAAAAGTTAAATGGG	0.308													C	37505290	A	C	37505290	3	2	180	1	0	0	0	0	1	0	0	0	658	69	3	5	3009	5	ANKRD30A	10	37505290	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	74261	37505290	98029457	182	96713											
ZNF32	7580	broad.mit.edu	37	chr10	44140004	44140004	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttccacagtgggtgcactCaaaaggcttttgaccagtgt	10	9	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:44140004C>G	uc001jbb.2	-	3	505	c.316G>C	c.(316-318)GAG>CAG	p.E106Q	uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.E106Q	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	106	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGGGTGCACTCAAAAGGCTTT	0.478													G	44140004	C	G	44140004	3	3	180	1	0	0	0	0	1	0	0	0	17835	835	29	5	509	5	ZNF32	10	44140004	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	6634714	44140004	91394743	183	96714											
MAPK8	5599	broad.mit.edu	37	chr10	49634068	49634068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagctttgagaaactcttcCctgatgtccttttcccagct	6	12	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:49634068C>T	uc009xnz.2	+	8	1050	c.826C>T	c.(826-828)CCT>TCT	p.P276S	MAPK8_uc001jgl.2_Missense_Mutation_p.P276S|MAPK8_uc001jgm.2_Missense_Mutation_p.P276S|MAPK8_uc001jgo.2_Missense_Mutation_p.P276S|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.P276S|MAPK8_uc010qgk.1_Missense_Mutation_p.P276S|MAPK8_uc001jgp.2_Missense_Mutation_p.P276S|MAPK8_uc001jgq.2_Missense_Mutation_p.P276S	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	276	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			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAAACTCTTCCCTGATGTCCT	0.383													T	49634068	C	T	49634068	3	4	180	1	0	0	0	0	1	0	0	0	9283	623	22	4	928	4	MAPK8	10	49634068	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	5494064	49634068	85900679	184	96715											
PRKG1	5592	broad.mit.edu	37	chr10	54048563	54048563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatgatagaatttccaaAgaagattgccaaaaatgctg	8	6	0	5			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:54048563A>G	uc001jjm.2	+	15	1936	c.1742A>G	c.(1741-1743)AAG>AGG	p.K581R	PRKG1_uc001jjo.2_Missense_Mutation_p.K596R|PRKG1_uc009xow.1_Missense_Mutation_p.K299R|uc001jjq.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	581	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		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)		GAATTTCCAAAGAAGATTGCC	0.338													G	54048563	A	G	54048563	3	3	180	1	0	0	0	0	1	0	0	0	12522	72	3	3	2115	3	PRKG1	10	54048563	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	4414495	54048563	81486184	185	96716											
PCGF5	84333	broad.mit.edu	37	chr10	93011167	93011167	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctagattgtttacgaaaTaatgggcaatcaggggacaa	11	5	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:93011167T>A	uc001khh.2	+	6	691	c.444T>A	c.(442-444)AAT>AAA	p.N148K	PCGF5_uc010qnk.1_Missense_Mutation_p.N148K|PCGF5_uc001khi.2_Missense_Mutation_p.N148K	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			lung(1)	1						GTTTACGAAATAATGGGCAAT	0.333													A	93011167	T	A	93011167	3	1	180	1	0	0	0	0	1	0	0	0	11577	1403	49	5	462	5	PCGF5	10	93011167	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	38962604	93011167	42523580	186	96717											
C10orf28	27291	broad.mit.edu	37	chr10	99969326	99969326	+	Frame_Shift_Del	DEL	T	T	-													gctggtagtaattataacacTtttttggactctgaactcag							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:99969326delT	uc001kow.3	+	4	1750	c.1455delT	c.(1453-1455)ACTfs	p.T485fs	C10orf28_uc001kox.3_Frame_Shift_Del_p.T485fs|C10orf28_uc001koy.3_Frame_Shift_Del_p.T485fs|C10orf28_uc009xvx.2_Frame_Shift_Del_p.T485fs|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	485							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		ATTATAACACTTTTTTGGACT	0.393													-	99969326	T	-	99969326	7	5	180	1	0	1	0	1	0	0	0	0	1601	1596	56	0	1457	0	C10orf28	10	99969326	Frame_Shift_Del	DEL	T	TCGA-CG-4469-01A-01D-1158-08	6958159	99969326	35565421	187	96718											
ABLIM1	3983	broad.mit.edu	37	chr10	116198978	116198978	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagacactcctcggtccattCtcattgcaggcatgtggcca	9	13	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:116198978C>A	uc010qsg.1	-	20	2198	c.2099G>T	c.(2098-2100)AGA>ATA	p.R700I	ABLIM1_uc010qsh.1_Missense_Mutation_p.R668I|ABLIM1_uc010qsi.1_Missense_Mutation_p.R640I|ABLIM1_uc010qsf.1_Missense_Mutation_p.R377I	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	700					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCGGTCCATTCTCATTGCAGG	0.483													A	116198978	C	A	116198978	3	1	180	1	0	0	0	0	1	0	0	0	94	913	32	5	249	5	ABLIM1	10	116198978	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	16229652	116198978	19335769	188	96719											
ATRNL1	26033	broad.mit.edu	37	chr10	117059546	117059546	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctgttgtttacagaaAgtatcaccttgggtaggctt	9	7	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:117059546A>C	uc001lcg.2	+	16	2804	c.2418A>C	c.(2416-2418)AAA>AAC	p.K806N	ATRNL1_uc010qsm.1_5'UTR|ATRNL1_uc010qsn.1_5'Flank	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	806	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		GTTTACAGAAAGTATCACCTT	0.368													C	117059546	A	C	117059546	3	2	180	1	0	0	0	0	1	0	0	0	1207	69	3	5	2480	5	ATRNL1	10	117059546	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	860568	117059546	18475201	189	96720											
GFRA1	2674	broad.mit.edu	37	chr10	117853305	117853305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcacaccatggggccacaCtgaggctactggagtctatg	12	11	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:117853305C>A	uc001lcj.2	-	8	1621	c.923G>T	c.(922-924)AGT>ATT	p.S308I	GFRA1_uc001lci.2_Missense_Mutation_p.S303I|GFRA1_uc009xyr.2_Missense_Mutation_p.S303I	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	308	3.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGGGCCACACTGAGGCTACT	0.413													A	117853305	C	A	117853305	3	1	180	1	0	0	0	0	1	0	0	0	6347	565	20	5	490	5	GFRA1	10	117853305	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	793759	117853305	17681442	190	96721											
GFRA1	2674	broad.mit.edu	37	chr10	117884933	117884933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggccttgtggcacttgCggcggttgcagacatcgttg	17	9	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:117884933C>T	uc001lcj.2	-	6	1267	c.569G>A	c.(568-570)CGC>CAC	p.R190H	GFRA1_uc001lci.2_Missense_Mutation_p.R185H|GFRA1_uc009xyr.2_Missense_Mutation_p.R185H	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	190	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGCACTTGCGGCGGTTGCA	0.607													T	117884933	C	T	117884933	3	4	180	1	0	0	0	0	1	0	0	0	6347	768	27	1	852	1	GFRA1	10	117884933	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	31628	117884933	17649814	191	96722											
MMP21	118856	broad.mit.edu	37	chr10	127461299	127461299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctcccatcgaaggcccGcggacagcccaggtgccggc	13	19	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr10:127461299G>A	uc001liu.2	-	3	718	c.718C>T	c.(718-720)CGG>TGG	p.R240W		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	240					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCGAAGGCCCGCGGACAGCCC	0.652													A	127461299	G	A	127461299	3	1	180	1	0	0	0	0	1	0	0	0	9660	1086	38	1	1011	1	MMP21	10	127461299	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	9576366	127461299	8073448	192	96723											
TNNI2	7136	broad.mit.edu	37	chr11	1862752	1862752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtctggcatggagggcCggaagaagatgtttgagtcc	16	6	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:1862752C>T	uc010qxe.1	+	6	542	c.520C>T	c.(520-522)CGG>TGG	p.R174W	TNNI2_uc010qxc.1_Missense_Mutation_p.R172W|TNNI2_uc010qxd.1_Missense_Mutation_p.R172W	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	174			R -> Q (in DA2B).		muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		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)		CATGGAGGGCCGGAAGAAGAT	0.627													T	1862752	C	T	1862752	3	4	180	1	0	0	0	0	1	0	0	0	16324	643	23	1	561	1	TNNI2	11	1862752	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08		1862752	133143764	193	96724											
MRGPRE	116534	broad.mit.edu	37	chr11	3249330	3249330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggacagccagtagatgcCgaagggcaggccgcagaaga	16	11	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:3249330C>T	uc001lxq.3	-	2	1007	c.697G>A	c.(697-699)GGC>AGC	p.G233S		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	233	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTAGATGCCGAAGGGCAGG	0.677													T	3249330	C	T	3249330	3	4	180	1	0	0	0	0	1	0	0	0	9764	652	23	1	242	1	MRGPRE	11	3249330	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1386578	3249330	131757186	194	96725											
HBE1	3046	broad.mit.edu	37	chr11	5290789	5290789	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagcatctccaaaggaAgtcagcaccttcttgccatg	7	11	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:5290789A>C	uc001mal.1	-	2	463	c.210T>G	c.(208-210)ACT>ACG	p.T70T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.T70T	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	70					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAAAGGAAGTCAGCACCT	0.517													C	5290789	A	C	5290789	2	2	180	1	0	0	0	0	0	0	0	1	6980	59	3	5		5	HBE1	11	5290789	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	2041459	5290789	129715727	195	96726											
OR51B4	79339	broad.mit.edu	37	chr11	5323134	5323134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcctctgagcccaagaAgccagtcagcaagaaggggc	12	12	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:5323134A>G	uc010qza.1	-	1	43	c.43T>C	c.(43-45)TTC>CTC	p.F15L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		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)		GAGCCCAAGAAGCCAGTCAGC	0.468											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	5323134	A	G	5323134	3	3	180	1	0	0	0	0	1	0	0	0	11090	72	3	3	892	3	OR51B4	11	5323134	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	32345	5323134	129683382	196	96727											
OR52L1	338751	broad.mit.edu	37	chr11	6007684	6007684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccattccgatgcacccTatgacccctggatgcaggat	8	15	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:6007684T>C	uc001mcd.2	-	1	532	c.477A>G	c.(475-477)ATA>ATG	p.I159M		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		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)		CGATGCACCCTATGACCCCTG	0.517													C	6007684	T	C	6007684	3	2	180	1	0	0	0	0	1	0	0	0	11125	1512	53	3	516	3	OR52L1	11	6007684	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	684550	6007684	128998832	197	96728											
CRY2	1408	broad.mit.edu	37	chr11	45869154	45869154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgactccacgacaaccCggcgttgctggcggccgtgc	14	16	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:45869154C>T	uc010rgn.1	+	1	198	c.176C>T	c.(175-177)CCG>CTG	p.P59L	CRY2_uc009ykw.2_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	38	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			central_nervous_system(1)	1						CACGACAACCCGGCGTTGCTG	0.567													T	45869154	C	T	45869154	3	4	180	1	0	0	0	0	1	0	0	0	3904	652	23	1	214	1	CRY2	11	45869154	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	39861470	45869154	89137362	198	96729											
OR4C12	283093	broad.mit.edu	37	chr11	50003778	50003778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaggagatgattttcTtctcttgaaaggaatccaca	7	7	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:50003778T>G	uc010ria.1	-	1	260	c.260A>C	c.(259-261)AAG>ACG	p.K87T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GATGATTTTCTTCTCTTGAAA	0.438													G	50003778	T	G	50003778	3	3	180	1	0	0	0	0	1	0	0	0	11046	1609	56	5	673	5	OR4C12	11	50003778	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	4134624	50003778	85002738	199	96730											
OR4C16	219428	broad.mit.edu	37	chr11	55340243	55340243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagttatgtcatgctaataTtctcctatgtcatcttcttg	6	8	5	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:55340243T>G	uc010rih.1	+	1	640	c.640T>G	c.(640-642)TTC>GTC	p.F214V		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				CATGCTAATATTCTCCTATGT	0.428													G	55340243	T	G	55340243	3	3	180	1	0	0	0	0	1	0	0	0	11049	1493	52	5	642	5	OR4C16	11	55340243	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	5336465	55340243	79666273	200	96731											
OR5L2	26338	broad.mit.edu	37	chr11	55595359	55595359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctacctgctaattcTcaccactatcctgaagatac	3	16	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:55595359T>C	uc001nhy.1	+	1	665	c.665T>C	c.(664-666)CTC>CCC	p.L222P		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CTGCTAATTCTCACCACTATC	0.498										HNSCC(27;0.073)			C	55595359	T	C	55595359	3	2	180	1	0	0	0	0	1	0	0	0	11171	1551	54	3	667	3	OR5L2	11	55595359	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	255116	55595359	79411157	201	96732											
OR8H3	390152	broad.mit.edu	37	chr11	55890015	55890015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccgcctggacctccagcTtcacactcccatgtattttt	5	15	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:55890015T>G	uc001nii.1	+	1	167	c.167T>G	c.(166-168)CTT>CGT	p.L56R		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					GACCTCCAGCTTCACACTCCC	0.438													G	55890015	T	G	55890015	3	3	180	1	0	0	0	0	1	0	0	0	11239	1609	56	5	169	5	OR8H3	11	55890015	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	294656	55890015	79116501	202	96733											
OR5T2	219464	broad.mit.edu	37	chr11	55999981	55999981	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgagtgtcagaataAgaaatagcaaggagaggagg	15	2	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:55999981A>C	uc010rjc.1	-	1	681	c.681T>G	c.(679-681)TCT>TCG	p.S227S		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	227	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423													C	55999981	A	C	55999981	2	2	180	1	0	0	0	0	0	0	0	1	11182	59	3	5		5	OR5T2	11	55999981	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	109966	55999981	79006535	203	96734											
OR8K3	219473	broad.mit.edu	37	chr11	56086621	56086621	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccatattttacaccctggTtatccccatgttgaatccct	4	13	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:56086621T>G	uc010rjf.1	+	1	839	c.839T>G	c.(838-840)GTT>GGT	p.V280G		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TACACCCTGGTTATCCCCATG	0.373													G	56086621	T	G	56086621	3	3	180	1	0	0	0	0	1	0	0	0	11244	1725	60	5	841	5	OR8K3	11	56086621	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	86640	56086621	78919895	204	96735											
OR5M11	219487	broad.mit.edu	37	chr11	56310202	56310202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgagcggcgggtcagcacAgtagaagtggttgatgacac	15	7	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:56310202A>G	uc010rjl.1	-	1	532	c.532T>C	c.(532-534)TGT>CGT	p.C178R		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGGTCAGCACAGTAGAAGTGG	0.493													G	56310202	A	G	56310202	3	3	180	1	0	0	0	0	1	0	0	0	11174	188	7	3	388	3	OR5M11	11	56310202	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	223581	56310202	78696314	205	96736											
CNTF	1270	broad.mit.edu	37	chr11	58391663	58391663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttttgttggccaggctcTtagaagaccagcaggtgcat	12	8	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:58391663T>C	uc001nna.3	+	2	351	c.271T>C	c.(271-273)TTA>CTA	p.L91L	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	91					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GGCCAGGCTCTTAGAAGACCA	0.498													C	58391663	T	C	58391663	2	2	180	1	0	0	0	0	0	0	0	1	3637	1606	56	3		3	CNTF	11	58391663	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	2081461	58391663	76614853	206	96737											
OR4D11	219986	broad.mit.edu	37	chr11	59271453	59271453	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccctgcactatgtgaccatCatgagtagagggcaatgcac	10	12	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:59271453C>T	uc001noa.1	+	1	405	c.405C>T	c.(403-405)ATC>ATT	p.I135I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATGTGACCATCATGAGTAGAG	0.537													T	59271453	C	T	59271453	2	4	180	1	0	0	0	0	0	0	0	1	11055	816	29	4		4	OR4D11	11	59271453	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	879790	59271453	75735063	207	96738											
GPR44	11251	broad.mit.edu	37	chr11	60620847	60620847	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcaggaagccgctggCgaacatgttgagaaagaaga	15	7	0	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:60620847C>G	uc001nqc.2	-	2	461	c.349G>C	c.(349-351)GCC>CCC	p.A117P		NM_004778	NP_004769	Q9Y5Y4	GPR44_HUMAN	G protein-coupled receptor 44	117	Helical; Name=3; (Potential).				immune response	integral to plasma membrane	N-formyl peptide receptor activity			ovary(1)	1						AAGCCGCTGGCGAACATGTTG	0.647													G	60620847	C	G	60620847	3	3	180	1	0	0	0	0	1	0	0	0	6695	768	27	5	842	5	GPR44	11	60620847	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1349394	60620847	74385669	208	96739											
NPAS4	266743	broad.mit.edu	37	chr11	66192584	66192584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaggggccccatcGccttgcaacaacctgtcccc	11	18	0	0	rs151135507		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:66192584G>A	uc001ohx.1	+	7	2399	c.2223G>A	c.(2221-2223)TCG>TCA	p.S741S	NPAS4_uc010rpc.1_Silent_p.S531S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	741					transcription, DNA-dependent		DNA binding|signal transducer activity				0						GGGCCCCATCGCCTTGCAACA	0.587													A	66192584	G	A	66192584	2	1	180	1	0	0	0	0	0	0	0	1	10565	1074	38	1		1	NPAS4	11	66192584	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	5571737	66192584	68813932	209	96740											
NOX4	50507	broad.mit.edu	37	chr11	89133448	89133448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgacatctgagggatgacTcatgaccgaaatgatggtga	12	7	2	6			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:89133448T>G	uc001pct.2	-	10	1185	c.946A>C	c.(946-948)AGT>CGT	p.S316R	NOX4_uc009yvr.2_Missense_Mutation_p.S291R|NOX4_uc001pcu.2_Missense_Mutation_p.S242R|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.S316R|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.S150R|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.S292R|NOX4_uc009yvq.2_Missense_Mutation_p.S292R	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	316	FAD-binding FR-type.|Extracellular (Potential).|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			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAGGGATGACTCATGACCGAA	0.438													G	89133448	T	G	89133448	3	3	180	1	0	0	0	0	1	0	0	0	10558	1551	54	5	826	5	NOX4	11	89133448	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	22940864	89133448	45873068	210	96741											
CADM1	23705	broad.mit.edu	37	chr11	115102154	115102154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcagttgacttcaatctCctcaccttccaccgcagtgt	7	14	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:115102154C>T	uc001ppi.3	-	4	610	c.481G>A	c.(481-483)GAG>AAG	p.E161K	CADM1_uc001ppf.3_Missense_Mutation_p.E161K|CADM1_uc001ppk.3_Missense_Mutation_p.E161K|CADM1_uc001ppj.3_Missense_Mutation_p.E161K|CADM1_uc001ppl.2_Missense_Mutation_p.E161K	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	161	Ig-like C2-type 1.|Extracellular (Potential).				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			ovary(2)	2	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)		ACTTCAATCTCCTCACCTTCC	0.448													T	115102154	C	T	115102154	3	4	180	1	0	0	0	0	1	0	0	0	2566	864	30	4	875	4	CADM1	11	115102154	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	25968706	115102154	19904362	211	96742											
TMPRSS13	84000	broad.mit.edu	37	chr11	117787939	117787939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcacgcacccgatgaGcggtagctgcttctggccct	14	13	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:117787939G>A	uc001prs.1	-	3	595	c.502C>T	c.(502-504)CTC>TTC	p.L168F	TMPRSS13_uc009yzr.1_Intron|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.L168F	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	163	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CACCCGATGAGCGGTAGCTGC	0.627													A	117787939	G	A	117787939	3	1	180	1	0	0	0	0	1	0	0	0	16242	971	34	2	1245	2	TMPRSS13	11	117787939	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2685785	117787939	17218577	212	96743											
OAF	220323	broad.mit.edu	37	chr11	120097661	120097661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgccgaggccgtggatgCcatctacacccgccaggagg	15	13	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:120097661C>T	uc001pxb.2	+	3	744	c.503C>T	c.(502-504)GCC>GTC	p.A168V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	168											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCCGTGGATGCCATCTACACC	0.657													T	120097661	C	T	120097661	3	4	180	1	0	0	0	0	1	0	0	0	10798	739	26	2	513	2	OAF	11	120097661	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2309722	120097661	14908855	213	96744											
GRIK4	2900	broad.mit.edu	37	chr11	120833306	120833306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggaatccaccatgaacGagtactatcggcagcgaaac	9	12	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:120833306G>A	uc001pxn.2	+	18	2469	c.2182G>A	c.(2182-2184)GAG>AAG	p.E728K	GRIK4_uc009zav.1_Missense_Mutation_p.E728K|GRIK4_uc009zaw.1_Missense_Mutation_p.E728K|GRIK4_uc009zax.1_Missense_Mutation_p.E728K	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	728	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	CACCATGAACGAGTACTATCG	0.557													A	120833306	G	A	120833306	3	1	180	1	0	0	0	0	1	0	0	0	6776	1059	37	1	2244	1	GRIK4	11	120833306	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	735645	120833306	14173210	214	96745											
ASAM	79827	broad.mit.edu	37	chr11	122953807	122953807	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcttacactgtacagttactCgcaccacacagctttccttc	5	15	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:122953807C>G	uc001pyt.2	-	5	1024	c.665G>C	c.(664-666)CGA>CCA	p.R222P		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	222	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TACAGTTACTCGCACCACACA	0.428													G	122953807	C	G	122953807	3	3	180	1	0	0	0	0	1	0	0	0	1009	884	31	5	468	5	ASAM	11	122953807	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2120501	122953807	12052709	215	96746											
OR8D1	283159	broad.mit.edu	37	chr11	124180410	124180410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcttctttcctaggaAgttcaccagcattttgggag	9	8	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:124180410A>G	uc010sag.1	-	1	253	c.253T>C	c.(253-255)TTC>CTC	p.F85L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		TTTCCTAGGAAGTTCACCAGC	0.468													G	124180410	A	G	124180410	3	3	180	1	0	0	0	0	1	0	0	0	11231	72	3	3	676	3	OR8D1	11	124180410	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1226603	124180410	10826106	216	96747											
OR8D2	283160	broad.mit.edu	37	chr11	124189189	124189189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcccctagtcatcttcTtcagtgcatttttcacatcc	4	15	5	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr11:124189189T>G	uc010sah.1	-	1	905	c.905A>C	c.(904-906)AAG>ACG	p.K302T		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		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)		AGTCATCTTCTTCAGTGCATT	0.393													G	124189189	T	G	124189189	3	3	180	1	0	0	0	0	1	0	0	0	11232	1609	56	5	33	5	OR8D2	11	124189189	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	8779	124189189	10817327	217	96748											
KCNA1	3736	broad.mit.edu	37	chr12	5021847	5021847	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtcagttcccctaacTtagcctctgacagtgacctc	6	16	2	2	rs139518461		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:5021847T>G	uc001qnh.2	+	2	2408	c.1303T>G	c.(1303-1305)TTA>GTA	p.L435V		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	435					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCCCTAACTTAGCCTCTGA	0.488													G	5021847	T	G	5021847	3	3	180	1	0	0	0	0	1	0	0	0	8001	1606	56	5	1305	5	KCNA1	12	5021847	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08		5021847	128830048	218	96749											
GPR162	27239	broad.mit.edu	37	chr12	6933903	6933903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccatcgtctttctctAtgactcactcacaggggtgc	9	14	4	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:6933903A>G	uc001qqw.1	+	2	1374	c.839A>G	c.(838-840)TAT>TGT	p.Y280C	LEPREL2_uc001qqz.1_5'Flank|GPR162_uc010sfn.1_Missense_Mutation_p.Y280C|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	280	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTCTTTCTCTATGACTCACTC	0.597													G	6933903	A	G	6933903	3	3	180	1	0	0	0	0	1	0	0	0	6666	449	16	3	860	3	GPR162	12	6933903	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1912056	6933903	126917992	219	96750											
SLCO1C1	53919	broad.mit.edu	37	chr12	20874854	20874854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctggtatttaccaaagAgtttaccaagatcccaaagt	6	9	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:20874854A>G	uc001rej.3	+	9	1247	c.892A>G	c.(892-894)AGT>GGT	p.S298G	SLCO1C1_uc010sii.1_Missense_Mutation_p.S298G|SLCO1C1_uc010sij.1_Missense_Mutation_p.S249G|SLCO1C1_uc009zip.2_Missense_Mutation_p.S132G|SLCO1C1_uc001rei.2_Missense_Mutation_p.S298G|SLCO1C1_uc010sik.1_Missense_Mutation_p.S180G	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	298	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					TTTACCAAAGAGTTTACCAAG	0.438													G	20874854	A	G	20874854	3	3	180	1	0	0	0	0	1	0	0	0	14725	304	11	3	918	3	SLCO1C1	12	20874854	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	13940951	20874854	112977041	220	96751											
SLCO1C1	53919	broad.mit.edu	37	chr12	20905343	20905343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgtttcaaaacacagaAgttttataaccaagagagaa	6	5	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:20905343A>C	uc001rej.3	+	16	2375	c.2020A>C	c.(2020-2022)AGT>CGT	p.S674R	SLCO1C1_uc010sii.1_Missense_Mutation_p.K708T|SLCO1C1_uc010sij.1_Missense_Mutation_p.S625R|SLCO1C1_uc009zip.2_Missense_Mutation_p.K542T|SLCO1C1_uc001rei.2_Missense_Mutation_p.S674R|SLCO1C1_uc010sik.1_Missense_Mutation_p.K590T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	674	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					AAAACACAGAAGTTTTATAAC	0.358													C	20905343	A	C	20905343	3	2	180	1	0	0	0	0	1	0	0	0	14725	72	3	5	2177	5	SLCO1C1	12	20905343	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	30489	20905343	112946552	221	96752											
SOX5	6660	broad.mit.edu	37	chr12	23908618	23908618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccattgcaagaagcttgtcTttccagtcctttgagagtag	9	10	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:23908618T>C	uc001rfw.2	-	4	624	c.522A>G	c.(520-522)AAA>AAG	p.K174K	SOX5_uc001rfx.2_Silent_p.K161K|SOX5_uc001rfy.2_Silent_p.K161K|SOX5_uc010siv.1_Silent_p.K161K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.K126K	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	174					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GAAGCTTGTCTTTCCAGTCCT	0.363													C	23908618	T	C	23908618	2	2	180	1	0	0	0	0	0	0	0	1	14954	1606	56	3		3	SOX5	12	23908618	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	3003275	23908618	109943277	222	96753											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858713	42858713	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagactcagatcatccaAttttcgagaaagggtgtcat	11	7	3	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:42858713A>G	uc010skv.1	-	7	1410	c.1123T>C	c.(1123-1125)TTG>CTG	p.L375L	PRICKLE1_uc001rnl.2_Silent_p.L375L|PRICKLE1_uc010skw.1_Silent_p.L375L|PRICKLE1_uc001rnm.2_Silent_p.L375L	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	375					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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGATCATCCAATTTTCGAGAA	0.468													G	42858713	A	G	42858713	2	3	180	1	0	0	0	0	0	0	0	1	12486	98	4	3		3	PRICKLE1	12	42858713	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	18950095	42858713	90993182	223	96754											
DGKA	1606	broad.mit.edu	37	chr12	56335328	56335328	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccagtatatattaaaccctCgacaggtgttcaacctccta	5	12	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:56335328C>T	uc001sij.2	+	15	1474	c.1210C>T	c.(1210-1212)CGA>TGA	p.R404*	DGKA_uc001sih.1_Nonsense_Mutation_p.R292*|DGKA_uc001sii.1_Nonsense_Mutation_p.R262*|DGKA_uc009zod.1_Nonsense_Mutation_p.R323*|DGKA_uc001sik.2_Nonsense_Mutation_p.R404*|DGKA_uc001sil.2_Nonsense_Mutation_p.R404*|DGKA_uc001sim.2_Nonsense_Mutation_p.R404*|DGKA_uc001sin.2_Nonsense_Mutation_p.R404*|DGKA_uc009zof.2_Nonsense_Mutation_p.R50*|DGKA_uc001sio.2_Nonsense_Mutation_p.R146*	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	404	DAGKc.				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			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	ATTAAACCCTCGACAGGTGTT	0.488													T	56335328	C	T	56335328	4	4	180	1	0	0	0	0	0	1	0	0	4465	876	31	1	1264	1	DGKA	12	56335328	Nonsense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	13476615	56335328	77516567	224	96755											
TBC1D15	64786	broad.mit.edu	37	chr12	72291645	72291645	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgatgaatacttcagaatGaaactgcagtggaaatccat	9	6	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:72291645G>A	uc001swu.2	+	11	1233	c.1224G>A	c.(1222-1224)ATG>ATA	p.M408I	TBC1D15_uc009zrv.2_Missense_Mutation_p.M270I|TBC1D15_uc010stt.1_Missense_Mutation_p.M377I|TBC1D15_uc001swv.2_Missense_Mutation_p.M391I|TBC1D15_uc001sww.2_Missense_Mutation_p.M140I	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	386	Rab-GAP TBC.						protein binding|Rab GTPase activator activity				0						ACTTCAGAATGAAACTGCAGT	0.299													A	72291645	G	A	72291645	3	1	180	1	0	0	0	0	1	0	0	0	15601	1290	45	4	1324	4	TBC1D15	12	72291645	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	15956317	72291645	61560250	225	96756											
TRHDE	29953	broad.mit.edu	37	chr12	73046203	73046203	+	Missense_Mutation	SNP	C	C	G													gaaattccattccaccacagCagtttctgagaagaaaatat							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:73046203C>G	uc001sxa.2	+	16	2672	c.2642C>G	c.(2641-2643)GCA>GGA	p.A881G		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	881	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TCCACCACAGCAGTTTCTGAG	0.378													G	73046203	C	G	73046203	3	3	180	1	0	0	0	0	1	0	0	0	16476	710	25	5	2704	5	TRHDE	12	73046203	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	754558	73046203	60805692	226	96757	483	2									
TRHDE	29953	broad.mit.edu	37	chr12	73046210	73046210	+	Silent	SNP	T	T	C													cattccaccacagcagtttcTgagaagaaaatattattgga							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:73046210T>C	uc001sxa.2	+	16	2679	c.2649T>C	c.(2647-2649)TCT>TCC	p.S883S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	883	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CAGCAGTTTCTGAGAAGAAAA	0.373													C	73046210	T	C	73046210	2	2	180	1	0	0	0	0	0	0	0	1	16476	1567	55	3		3	TRHDE	12	73046210	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	7	73046210	60805685	227	96758	483	2									
TMTC3	160418	broad.mit.edu	37	chr12	88542204	88542204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgatgtttcagcaatactgGataacaaagacttgcatcca	7	8	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:88542204G>C	uc001tau.2	+	2	332	c.112G>C	c.(112-114)GAT>CAT	p.D38H	TMTC3_uc009zsm.2_RNA	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	38						integral to membrane	binding			skin(1)	1						AGCAATACTGGATAACAAAGA	0.348													C	88542204	G	C	88542204	3	2	180	1	0	0	0	0	1	0	0	0	16259	1174	41	5	114	5	TMTC3	12	88542204	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	15495994	88542204	45309691	228	96759											
NUAK1	9891	broad.mit.edu	37	chr12	106461101	106461101	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcattactgtccaacagctCcgaagactcactgcgctctg	7	14	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:106461101C>A	uc001tlj.1	-	7	2845	c.1465G>T	c.(1465-1467)GAG>TAG	p.E489*		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	489							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						TCCAACAGCTCCGAAGACTCA	0.592													A	106461101	C	A	106461101	4	1	180	1	0	0	0	0	0	1	0	0	10712	864	30	5	524	5	NUAK1	12	106461101	Nonsense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	17918897	106461101	27390794	229	96760											
ASCL4	121549	broad.mit.edu	37	chr12	108169333	108169333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctcagcaaagtggagaCgctccgcgctgccatcgact	12	15	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:108169333C>T	uc001tmr.2	+	1	1172	c.341C>T	c.(340-342)ACG>ATG	p.T114M		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	113	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						AAAGTGGAGACGCTCCGCGCT	0.726													T	108169333	C	T	108169333	3	4	180	1	0	0	0	0	1	0	0	0	1036	536	19	1	343	1	ASCL4	12	108169333	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1708232	108169333	25682562	230	96761											
ANAPC7	51434	broad.mit.edu	37	chr12	110841453	110841453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctctgcaaagccgcggGcagcggcggcagcactgact	14	15	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:110841453G>A	uc001tqo.2	-	1	83	c.82C>T	c.(82-84)CCC>TCC	p.P28S	ANAPC7_uc001tqp.3_Missense_Mutation_p.P28S	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	28					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	protein phosphatase binding				0						AAAGCCGCGGGCAGCGGCGGC	0.642													A	110841453	G	A	110841453	3	1	180	1	0	0	0	0	1	0	0	0	606	1203	42	2	1765	2	ANAPC7	12	110841453	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2672120	110841453	23010442	231	96762											
CUX2	23316	broad.mit.edu	37	chr12	111779618	111779618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctatggcctcatcagcacCggctcagacagtgagtcccc	10	16	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:111779618C>T	uc001tsa.1	+	21	3573	c.3420C>T	c.(3418-3420)ACC>ACT	p.T1140T		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TCATCAGCACCGGCTCAGACA	0.657													T	111779618	C	T	111779618	2	4	180	1	0	0	0	0	0	0	0	1	4065	639	23	1		1	CUX2	12	111779618	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	938165	111779618	22072277	232	96763											
TBX3	6926	broad.mit.edu	37	chr12	115112506	115112506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgaaaaggtgagccttgaCcgcggggctgcccttgtcac	14	12	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:115112506C>T	uc001tvt.1	-	7	2198	c.1234G>A	c.(1234-1236)GTC>ATC	p.V412I	TBX3_uc001tvu.1_Missense_Mutation_p.V392I	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	412					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			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGAGCCTTGACCGCGGGGCTG	0.697													T	115112506	C	T	115112506	3	4	180	1	0	0	0	0	1	0	0	0	15656	507	18	4	1005	4	TBX3	12	115112506	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	3332888	115112506	18739389	233	96764											
DHX37	57647	broad.mit.edu	37	chr12	125453092	125453092	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacctgcgggcagcaTccggtggatcttgcagacct	13	14	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:125453092T>A	uc001ugy.2	-	10	1495	c.1396A>T	c.(1396-1398)ATG>TTG	p.M466L		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	466	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	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)		GCGGGCAGCATCCGGTGGATC	0.602													A	125453092	T	A	125453092	3	1	180	1	0	0	0	0	1	0	0	0	4510	1435	50	5	2149	5	DHX37	12	125453092	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	10340586	125453092	8398803	234	96765											
TMEM132D	121256	broad.mit.edu	37	chr12	129559097	129559097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggtctgcaagtggctgtTgtcatctaaaaggctttcct	11	8	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr12:129559097T>C	uc009zyl.1	-	9	2951	c.2623A>G	c.(2623-2625)AAC>GAC	p.N875D	TMEM132D_uc001uia.2_Missense_Mutation_p.N413D	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	875	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		AAGTGGCTGTTGTCATCTAAA	0.552													C	129559097	T	C	129559097	3	2	180	1	0	0	0	0	1	0	0	0	16044	1812	63	3	680	3	TMEM132D	12	129559097	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	4106005	129559097	4292798	235	96766											
SACS	26278	broad.mit.edu	37	chr13	23914825	23914825	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccttcttcattacaaaagaGatcctttagtacttctatat	3	9	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:23914825G>A	uc001uon.2	-	10	3779	c.3190C>T	c.(3190-3192)CTC>TTC	p.L1064F	SACS_uc001uoo.2_Missense_Mutation_p.L917F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1064					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TTACAAAAGAGATCCTTTAGT	0.388													A	23914825	G	A	23914825	3	1	180	1	0	0	0	0	1	0	0	0	13804	942	33	4	10553	4	SACS	13	23914825	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08		23914825	91255053	236	96767											
NBEA	26960	broad.mit.edu	37	chr13	35883675	35883675	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttaggaatggcaaaActctattcagaagaatgcag	8	8	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:35883675A>C	uc001uvb.2	+	36	6055	c.5849A>C	c.(5848-5850)AAC>ACC	p.N1950T	NBEA_uc010abi.2_Missense_Mutation_p.N606T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1950						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		GAATGGCAAAACTCTATTCAG	0.308													C	35883675	A	C	35883675	3	2	180	1	0	0	0	0	1	0	0	0	10187	43	2	5	5991	5	NBEA	13	35883675	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	11968850	35883675	79286203	237	96768											
MAB21L1	4081	broad.mit.edu	37	chr13	36049356	36049356	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgcaggcaggagataAgttgcagcaaaatcccgttc	12	10	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:36049356A>C	uc001uvc.2	-	1	1477	c.920T>G	c.(919-921)CTT>CGT	p.L307R	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	307					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		GCAGGAGATAAGTTGCAGCAA	0.527													C	36049356	A	C	36049356	3	2	180	1	0	0	0	0	1	0	0	0	9141	72	3	5	163	5	MAB21L1	13	36049356	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	165681	36049356	79120522	238	96769											
TRPC4	7223	broad.mit.edu	37	chr13	38357117	38357117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctccactaggttttttGtggttcaataacagctcaac	6	9	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:38357117G>T	uc001uws.2	-	2	589	c.354C>A	c.(352-354)CAC>CAA	p.H118Q	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.H118Q|TRPC4_uc010tey.1_Missense_Mutation_p.H118Q|TRPC4_uc010abw.2_Missense_Mutation_p.H118Q|TRPC4_uc010abx.2_Missense_Mutation_p.H118Q|TRPC4_uc010aby.2_Missense_Mutation_p.H118Q	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	118	ANK 3.|Cytoplasmic (Potential).|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			ovary(3)|skin(2)|breast(1)	6				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)		TAGGTTTTTTGTGGTTCAATA	0.299													T	38357117	G	T	38357117	3	4	180	1	0	0	0	0	1	0	0	0	16577	1368	48	5	2634	5	TRPC4	13	38357117	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2307761	38357117	76812761	239	96770											
KCNRG	283518	broad.mit.edu	37	chr13	50589942	50589942	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaacccatacctgctacagCcaagacctgctcttgtggag	8	13	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:50589942C>A	uc001vdu.2	+	1	553	c.313C>A	c.(313-315)CCA>ACA	p.P105T	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.P105T|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	105	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		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;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CCTGCTACAGCCAAGACCTGC	0.433													A	50589942	C	A	50589942	3	1	180	1	0	0	0	0	1	0	0	0	8087	739	26	5	315	5	KCNRG	13	50589942	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	12232825	50589942	64579936	240	96771											
SLITRK1	114798	broad.mit.edu	37	chr13	84453564	84453564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggtcttagtctgagagCgagtgagagccacagtcata	14	7	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:84453564C>T	uc001vlk.2	-	1	2965	c.2079G>A	c.(2077-2079)TCG>TCA	p.S693S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	693	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCTGAGAGCGAGTGAGAGC	0.587													T	84453564	C	T	84453564	2	4	180	1	0	0	0	0	0	0	0	1	14742	755	27	1		1	SLITRK1	13	84453564	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	33863622	84453564	30716314	241	96772											
SLITRK1	114798	broad.mit.edu	37	chr13	84454971	84454971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgttttccagccattcTttcagggagagcagatcaca	10	9	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:84454971T>C	uc001vlk.2	-	1	1558	c.672A>G	c.(670-672)AAA>AAG	p.K224K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	224	Extracellular (Potential).|LRRCT 1.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGCCATTCTTTCAGGGAGA	0.547													C	84454971	T	C	84454971	2	2	180	1	0	0	0	0	0	0	0	1	14742	1606	56	3		3	SLITRK1	13	84454971	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1407	84454971	30714907	242	96773											
SLITRK5	26050	broad.mit.edu	37	chr13	88329633	88329633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtcgtcggtgcccttgTctgtgttaattctcagcctc	12	12	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:88329633T>C	uc001vln.2	+	2	2209	c.1990T>C	c.(1990-1992)TCT>CCT	p.S664P	SLITRK5_uc010tic.1_Missense_Mutation_p.S423P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	664	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTGCCCTTGTCTGTGTTAAT	0.642													C	88329633	T	C	88329633	3	2	180	1	0	0	0	0	1	0	0	0	14746	1667	58	3	1992	3	SLITRK5	13	88329633	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	3874662	88329633	26840245	243	96774											
CLDN10	9071	broad.mit.edu	37	chr13	96230169	96230169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatacacatacaacggGgccacatctgtcatgtcttc	7	12	4	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:96230169G>A	uc001vmh.2	+	5	649	c.588G>A	c.(586-588)GGG>GGA	p.G196G	CLDN10_uc001vmg.2_Silent_p.G194G|CLDN10_uc010tii.1_Silent_p.G175G|DZIP1_uc010afn.2_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	196	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CATACAACGGGGCCACATCTG	0.373													A	96230169	G	A	96230169	2	1	180	1	0	0	0	0	0	0	0	1	3472	1219	43	4		4	CLDN10	13	96230169	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	7900536	96230169	18939709	244	96775											
COL4A1	1282	broad.mit.edu	37	chr13	110862540	110862540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcccgggcacatggccaAgtatctcacctggatcaccc	9	16	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr13:110862540A>C	uc001vqw.3	-	9	610	c.488T>G	c.(487-489)CTT>CGT	p.L163R	COL4A1_uc010agl.2_Missense_Mutation_p.L163R	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	163					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			CACATGGCCAAGTATCTCACC	0.433													C	110862540	A	C	110862540	3	2	180	1	0	0	0	0	1	0	0	0	3689	72	3	5	4697	5	COL4A1	13	110862540	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	14632371	110862540	4307338	245	96776											
RNASE2	6036	broad.mit.edu	37	chr14	21424360	21424360	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgacaacagagatcaaCgacgagaccctccacagtat	8	12	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:21424360C>T	uc010aif.2	+	2	499	c.430C>T	c.(430-432)CGA>TGA	p.R144*	RNASE2_uc001vyl.1_Nonsense_Mutation_p.R144*	NM_002934	NP_002925	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver,	144					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	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)		CAGAGATCAACGACGAGACCC	0.463													T	21424360	C	T	21424360	4	4	180	1	0	0	0	0	0	1	0	0	13404	528	19	1	432	1	RNASE2	14	21424360	Nonsense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08		21424360	85925180	246	96777											
SUPT16H	11198	broad.mit.edu	37	chr14	21840058	21840058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtattagcagtgtgatgGcaggggctccattagcattc	12	9	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:21840058G>A	uc001wao.2	-	3	644	c.305C>T	c.(304-306)GCC>GTC	p.A102V		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	102					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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAGTGTGATGGCAGGGGCTCC	0.393													A	21840058	G	A	21840058	3	1	180	1	0	0	0	0	1	0	0	0	15393	1203	42	2	2934	2	SUPT16H	14	21840058	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	415698	21840058	85509482	247	96778											
COCH	1690	broad.mit.edu	37	chr14	31353795	31353795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttacttgaaaaacttTacatcagccaaagatgtttt	5	6	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:31353795T>C	uc001wqr.2	+	9	746	c.666T>C	c.(664-666)TTT>TTC	p.F222F	COCH_uc001wqp.2_Silent_p.F222F|COCH_uc001wqq.3_Silent_p.F222F|uc001wqs.2_RNA|COCH_uc001wqt.1_Silent_p.F29F	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	222	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	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;0.00645)		TGAAAAACTTTACATCAGCCA	0.333													C	31353795	T	C	31353795	2	2	180	1	0	0	0	0	0	0	0	1	3656	1751	61	3		3	COCH	14	31353795	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	9513737	31353795	75995745	248	96779											
AKAP6	9472	broad.mit.edu	37	chr14	33292964	33292964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctactcccactgagaAgtctttctcagaactggctt	7	13	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:33292964A>C	uc001wrq.2	+	13	6115	c.5945A>C	c.(5944-5946)AAG>ACG	p.K1982T		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1982					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		CCCACTGAGAAGTCTTTCTCA	0.413													C	33292964	A	C	33292964	3	2	180	1	0	0	0	0	1	0	0	0	455	72	3	5	5991	5	AKAP6	14	33292964	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1939169	33292964	74056576	249	96780											
MDGA2	161357	broad.mit.edu	37	chr14	47600949	47600949	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtctaaacgacaccatcTtatcaggaatattacataca	4	10	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:47600949T>G	uc001wwj.3	-	5	882	c.686A>C	c.(685-687)AAG>ACG	p.K229T	MDGA2_uc001wwi.3_5'UTR|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	229	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CGACACCATCTTATCAGGAAT	0.328													G	47600949	T	G	47600949	3	3	180	1	0	0	0	0	1	0	0	0	9407	1609	56	5	2236	5	MDGA2	14	47600949	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	14307985	47600949	59748591	250	96781											
DAAM1	23002	broad.mit.edu	37	chr14	59806819	59806819	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagatgccattgatgacactCtgagttccaaacttaaagtt	7	9	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:59806819C>A	uc001xdz.1	+	17	2151	c.2026C>A	c.(2026-2028)CTG>ATG	p.L676M	DAAM1_uc001xea.1_Missense_Mutation_p.L666M	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	676	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGATGACACTCTGAGTTCCAA	0.388													A	59806819	C	A	59806819	3	1	180	1	0	0	0	0	1	0	0	0	4215	912	32	5	2088	5	DAAM1	14	59806819	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	12205870	59806819	47542721	251	96782											
ACTN1	87	broad.mit.edu	37	chr14	69347560	69347560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggtgtgcttgttgtcgaaGatgagcgcctcctggatgag	15	7	0	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:69347560G>A	uc001xkl.2	-	17	2410	c.2100C>T	c.(2098-2100)ATC>ATT	p.I700I	ACTN1_uc001xkk.2_Silent_p.I296I|ACTN1_uc010ttb.1_Silent_p.I635I|ACTN1_uc001xkm.2_Silent_p.I700I|ACTN1_uc001xkn.2_Silent_p.I700I|ACTN1_uc010ttc.1_Silent_p.I285I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	700	Spectrin 4.|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			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGTTGTCGAAGATGAGCGCCT	0.587													A	69347560	G	A	69347560	2	1	180	1	0	0	0	0	0	0	0	1	204	932	33	4		4	ACTN1	14	69347560	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	9540741	69347560	38001980	252	96783											
NRXN3	9369	broad.mit.edu	37	chr14	79117610	79117610	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtaggaggaagcccaAgtaccgctgacttgcctggc	12	11	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:79117610A>T	uc001xun.2	+	3	534	c.43A>T	c.(43-45)AGT>TGT	p.S15C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S149C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	388	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGGAAGCCCAAGTACCGCTGA	0.493													T	79117610	A	T	79117610	3	4	180	1	0	0	0	0	1	0	0	0	10667	72	3	5	45	5	NRXN3	14	79117610	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	9770050	79117610	28231930	253	96784											
FLRT2	23768	broad.mit.edu	37	chr14	86089542	86089542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtcttgctcagcgtcTtttgctggcatatgcacaaa	11	9	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:86089542T>G	uc001xvr.2	+	2	2451	c.1684T>G	c.(1684-1686)TTT>GTT	p.F562V	FLRT2_uc010atd.2_Missense_Mutation_p.F562V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	562	Helical; (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCTCAGCGTCTTTTGCTGGCA	0.577													G	86089542	T	G	86089542	3	3	180	1	0	0	0	0	1	0	0	0	5939	1609	56	5	1686	5	FLRT2	14	86089542	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	6971932	86089542	21259998	254	96785											
BTBD7	55727	broad.mit.edu	37	chr14	93712635	93712636	+	Splice_Site	INS	-	-	A													aagaatttgtgaggattctaINSaaaaagattaaaaaaaaaaa					rs72159285		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr14:93712634_93712635T>TA	uc001ybo.3	-	10	2448	c.2122_splice	c.e10-1	p.N708_splice	BTBD7_uc010aur.3_Splice_Site_p.N233_splice|BTBD7_uc010two.2_Splice_Site_p.N528_splice|BTBD7_uc001ybp.3_Splice_Site_p.N357_splice	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	708										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)		GTGAGGATTCTAAAAAAGATTA	0.356													A	93712636	-	A	93712635	8	5	180	1	0	1	1	0	0	0	1	0	1546	377	13	0		0	BTBD7	14	93712635	Splice_Site	INS	-	TCGA-CG-4469-01A-01D-1158-08	7623093	93712635	13636905	255	96786											
SNRPN	6638	broad.mit.edu	37	chr15	25222131	25222131	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaattccccaggcccctgcTggattggcaggccctgtccg	11	17	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:25222131T>G	uc001ywp.1	+	10	1265	c.375T>G	c.(373-375)GCT>GCG	p.A125A	SNRPN_uc001ywq.1_Silent_p.A125A|SNRPN_uc001ywr.1_Silent_p.A125A|SNRPN_uc001yws.1_Silent_p.A125A|SNRPN_uc001ywt.1_Silent_p.A125A|SNRPN_uc001ywv.1_Silent_p.A128A|SNRPN_uc001yww.1_Silent_p.A125A|SNRPN_uc001ywx.1_Silent_p.A125A|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	125					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGGCCCCTGCTGGATTGGCAG	0.592									Prader-Willi_syndrome				G	25222131	T	G	25222131	2	3	180	1	0	0	0	0	0	0	0	1	14870	1567	55	5		5	SNRPN	15	25222131	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08		25222131	77309261	256	96787											
LCMT2	9836	broad.mit.edu	37	chr15	43622516	43622516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacggcgcgtgcgcggaCgtagtagcctcggtgaatga	15	12	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:43622516C>T	uc001zrg.2	-	1	376	c.172G>A	c.(172-174)GTC>ATC	p.V58I	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	58					tRNA processing		methyltransferase activity|protein binding				0		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)	CGTGCGCGGACGTAGTAGCCT	0.716													T	43622516	C	T	43622516	3	4	180	1	0	0	0	0	1	0	0	0	8679	536	19	1	1892	1	LCMT2	15	43622516	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	18400385	43622516	58908876	257	96788											
DUOX1	53905	broad.mit.edu	37	chr15	45456025	45456025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagaaggttctgaaccGgagtctattcacaggcctgc	10	12	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:45456025G>A	uc001zus.1	+	34	4788	c.4442G>A	c.(4441-4443)CGG>CAG	p.R1481Q	DUOX1_uc001zut.1_Missense_Mutation_p.R1481Q|DUOX1_uc010bee.1_Missense_Mutation_p.R861Q	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1481	Cytoplasmic (Potential).				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			ovary(5)|skin(2)|breast(1)	8		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)		GTTCTGAACCGGAGTCTATTC	0.567											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45456025	G	A	45456025	3	1	180	1	0	0	0	0	1	0	0	0	4800	1116	39	1	4568	1	DUOX1	15	45456025	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1833509	45456025	57075367	258	96789											
SEMA6D	80031	broad.mit.edu	37	chr15	48063668	48063668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttatcacaaaaattcctccCagaggcactctatatctgct	5	12	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:48063668C>A	uc010bek.2	+	19	3268	c.2908C>A	c.(2908-2910)CAG>AAG	p.Q970K	SEMA6D_uc001zvw.2_Missense_Mutation_p.Q908K|SEMA6D_uc001zvy.2_Missense_Mutation_p.Q970K|SEMA6D_uc001zvz.2_Missense_Mutation_p.Q914K|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.Q908K|SEMA6D_uc001zwc.2_Missense_Mutation_p.Q895K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	970	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		AAATTCCTCCCAGAGGCACTC	0.463													A	48063668	C	A	48063668	3	1	180	1	0	0	0	0	1	0	0	0	14042	595	21	5	3021	5	SEMA6D	15	48063668	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2607643	48063668	54467724	259	96790											
SPPL2A	84888	broad.mit.edu	37	chr15	51017499	51017499	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaatagatcagttttgGtactctgatgactactggca	10	6	2	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:51017499G>C	uc001zyv.2	-	12	1348	c.1168C>G	c.(1168-1170)CCA>GCA	p.P390A		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	signal peptide peptidase-like 2A	390						integral to membrane	aspartic-type endopeptidase activity				0				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATCAGTTTTGGTACTCTGATG	0.318													C	51017499	G	C	51017499	3	2	180	1	0	0	0	0	1	0	0	0	15087	1261	44	5	410	5	SPPL2A	15	51017499	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2953831	51017499	51513893	260	96791											
UNC13C	440279	broad.mit.edu	37	chr15	54308071	54308071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagagttggaagagaagAtcttggctggaggtattcat	15	4	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:54308071A>C	uc002ack.2	+	1	2971	c.2971A>C	c.(2971-2973)ATC>CTC	p.I991L		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	991	Potential.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAAGAGAAGATCTTGGCTGG	0.408													C	54308071	A	C	54308071	3	2	180	1	0	0	0	0	1	0	0	0	16983	333	12	5	2973	5	UNC13C	15	54308071	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	3290572	54308071	48223321	261	96792											
UNC13C	440279	broad.mit.edu	37	chr15	54919041	54919041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcattctcggaaaggaAaatcgaccaggggcttatga	11	9	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:54919041A>G	uc002ack.2	+	31	6375	c.6375A>G	c.(6373-6375)GAA>GAG	p.E2125E	UNC13C_uc002acm.2_Silent_p.E46E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2125	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCGGAAAGGAAAATCGACCAG	0.299													G	54919041	A	G	54919041	2	3	180	1	0	0	0	0	0	0	0	1	16983	11	1	3		3	UNC13C	15	54919041	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	610970	54919041	47612351	262	96793											
UACA	55075	broad.mit.edu	37	chr15	70959121	70959121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtattcttctttgtaactctGtgattgttgttaaggactta	8	5	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:70959121G>T	uc002asr.2	-	16	4006	c.3902C>A	c.(3901-3903)ACA>AAA	p.T1301K	UACA_uc010uke.1_Missense_Mutation_p.T1192K|UACA_uc002asq.2_Missense_Mutation_p.T1288K|UACA_uc010bin.1_Missense_Mutation_p.T1276K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1301	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TTGTAACTCTGTGATTGTTGT	0.363													T	70959121	G	T	70959121	3	4	180	1	0	0	0	0	1	0	0	0	16821	1377	48	5	364	5	UACA	15	70959121	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	16040080	70959121	31572271	263	96794											
TM6SF1	53346	broad.mit.edu	37	chr15	83790730	83790730	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctattattatgagtgttgtTgtttttgtgccaggaaacat	9	4	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:83790730T>G	uc002bjp.2	+	5	565	c.456T>G	c.(454-456)GTT>GTG	p.V152V	TM6SF1_uc010bmq.2_Silent_p.V152V|TM6SF1_uc002bjq.2_Silent_p.V152V|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Silent_p.V4V	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	152	Helical; (Potential).					integral to membrane				ovary(1)	1						TGAGTGTTGTTGTTTTTGTGC	0.323													G	83790730	T	G	83790730	2	3	180	1	0	0	0	0	0	0	0	1	15969	1799	63	5		5	TM6SF1	15	83790730	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	12831609	83790730	18740662	264	96795											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84324519	84324519	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagactagaccccatggcTtcctggacgagcccctggtg	13	13	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:84324519T>G	uc002bjz.3	+	2	230	c.6T>G	c.(4-6)GCT>GCG	p.A2A	ADAMTSL3_uc002bjy.1_Silent_p.A2A|ADAMTSL3_uc010bmt.1_Silent_p.A2A|ADAMTSL3_uc010bmu.1_Silent_p.A2A	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	2						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCCCATGGCTTCCTGGACGA	0.567													G	84324519	T	G	84324519	2	3	180	1	0	0	0	0	0	0	0	1	276	1596	56	5		5	ADAMTSL3	15	84324519	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	533789	84324519	18206873	265	96796											
AKAP13	11214	broad.mit.edu	37	chr15	86124744	86124757	+	Frame_Shift_Del	DEL	ACCCCAGAGATGAT	ACCCCAGAGATGAT	-													ctgacccacagggagttggaAccccagagatgatacctctt							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:86124743_86124756AACCCCAGAGATGAT>A	uc002blv.1	+	6	3614_3627	c.3444_3457AACCCCAGAGATGAT>A	c.(3442-3459)ggaaccccagagatgatafs	p.G1148fs	AKAP13_uc002blt.1_Frame_Shift_Del_p.G1148fs|AKAP13_uc002blu.1_Frame_Shift_Del_p.G1148fs|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1148					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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|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						AGGGAGTTGGAACCCCAGAGATGATACCTCTTGA	0.519													-	86124757	ACCCCAGAGATGAT	-	86124744	7	5	180	1	0	1	0	1	0	0	0	0	449	43	2	0	3467	0	AKAP13	15	86124744	Frame_Shift_Del	DEL	ACCCCAGAGATGAT	TCGA-CG-4469-01A-01D-1158-08	1800225	86124744	16406648	266	96797											
C15orf32	145858	broad.mit.edu	37	chr15	93015606	93015606	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttacagatcaaacaaccaAgtttatcagaaattaaagac	4	7	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:93015606A>G	uc002brc.1	+	1	700	c.228A>G	c.(226-228)CAA>CAG	p.Q76Q	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	76										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			caaacaaccaagtttatcaga	0.318													G	93015606	A	G	93015606	2	3	180	1	0	0	0	0	0	0	0	1	1790	69	3	3		3	C15orf32	15	93015606	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	6890862	93015606	9515786	267	96798											
FAM169B	283777	broad.mit.edu	37	chr15	99023856	99023856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggttgtgtaaaacccaaCagccgctccacgtctccaca	7	15	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:99023856C>A	uc002buk.1	-	4	407	c.157G>T	c.(157-159)GTT>TTT	p.V53F		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	53											0						TAAAACCCAACAGCCGCTCCA	0.502													A	99023856	C	A	99023856	3	1	180	1	0	0	0	0	1	0	0	0	5488	478	17	5	437	5	FAM169B	15	99023856	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	6008250	99023856	3507536	268	96799											
IGF1R	3480	broad.mit.edu	37	chr15	99500432	99500432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaggagaacaagctgcccGagccggaggagctggacctg	17	11	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr15:99500432G>A	uc002bul.2	+	21	3915	c.3865G>A	c.(3865-3867)GAG>AAG	p.E1289K	IGF1R_uc010bon.2_Missense_Mutation_p.E1288K	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1289	Cytoplasmic (Potential).				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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	CAAGCTGCCCGAGCCGGAGGA	0.627													A	99500432	G	A	99500432	3	1	180	1	0	0	0	0	1	0	0	0	7571	1059	37	1	3947	1	IGF1R	15	99500432	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	476576	99500432	3030960	269	96800											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1797222	1797222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgtgcccgggagaagcgcGacagccgcaacatggaagta	15	11	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:1797222G>A	uc002cmk.2	+	6	1057	c.937G>A	c.(937-939)GAC>AAC	p.D313N	MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.D313N|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D314N	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	313					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GGAGAAGCGCGACAGCCGCAA	0.667													A	1797222	G	A	1797222	3	1	180	1	0	0	0	0	1	0	0	0	9286	1058	37	1	959	1	MAPK8IP3	16	1797222	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08		1797222	88557531	270	96801											
HS3ST4	9951	broad.mit.edu	37	chr16	26147518	26147518	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaacttgatgttttaCcaaatgactggtcaagattt	6	9	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:26147518C>A	uc002dof.2	+	2	1712	c.1320C>A	c.(1318-1320)TAC>TAA	p.Y440*		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	440	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		TGATGTTTTACCAAATGACTG	0.468													A	26147518	C	A	26147518	4	1	180	1	0	0	0	0	0	1	0	0	7367	518	18	5	1326	5	HS3ST4	16	26147518	Nonsense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	24350296	26147518	64207235	271	96802											
HS3ST4	9951	broad.mit.edu	37	chr16	26147533	26147533	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccaaatgactggtcaAgattttcagtgggaacagga	10	6	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:26147533A>C	uc002dof.2	+	2	1727	c.1335A>C	c.(1333-1335)CAA>CAC	p.Q445H		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	445	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		TGACTGGTCAAGATTTTCAGT	0.463													C	26147533	A	C	26147533	3	2	180	1	0	0	0	0	1	0	0	0	7367	69	3	5	1341	5	HS3ST4	16	26147533	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	15	26147533	64207220	272	96803											
SRCAP	10847	broad.mit.edu	37	chr16	30750720	30750720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccccaaaactgcgctcgaCccggctgcgtccagggtctc	10	17	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:30750720C>T	uc002dze.1	+	34	9744	c.9359C>T	c.(9358-9360)ACC>ATC	p.T3120I	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.T2915I	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3120					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTGCGCTCGACCCGGCTGCGT	0.597													T	30750720	C	T	30750720	3	4	180	1	0	0	0	0	1	0	0	0	15134	507	18	4	9485	4	SRCAP	16	30750720	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4603187	30750720	59604033	273	96804											
GNAO1	2775	broad.mit.edu	37	chr16	56362638	56362638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgatgcggctctggggCgactcaggaatccaagagtg	15	10	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:56362638C>T	uc002eit.3	+	4	1296	c.399C>T	c.(397-399)GGC>GGT	p.G133G	GNAO1_uc002eiu.3_Silent_p.G133G	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	133					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			lung(1)|breast(1)	2		all_neural(199;0.159)				GGCTCTGGGGCGACTCAGGAA	0.597													T	56362638	C	T	56362638	2	4	180	1	0	0	0	0	0	0	0	1	6508	755	27	1		1	GNAO1	16	56362638	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	25611918	56362638	33992115	274	96805											
CCDC135	84229	broad.mit.edu	37	chr16	57735855	57735855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtgaccagccctcgcAcctgtactcctcgaccactg	7	19	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:57735855A>G	uc002emi.2	+	5	601	c.512A>G	c.(511-513)CAC>CGC	p.H171R	CCDC135_uc002emj.2_Missense_Mutation_p.H171R|CCDC135_uc002emk.2_Intron	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	171						cytoplasm				central_nervous_system(1)	1						CAGCCCTCGCACCTGTACTCC	0.622													G	57735855	A	G	57735855	3	3	180	1	0	0	0	0	1	0	0	0	2769	159	6	3	526	3	CCDC135	16	57735855	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1373217	57735855	32618898	275	96806											
MTSS1L	92154	broad.mit.edu	37	chr16	70698105	70698105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagggcgcggcgcacGgtgggcttggtggagggtgt	22	8	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:70698105G>A	uc002ezj.2	-	15	1979	c.1719C>T	c.(1717-1719)ACC>ACT	p.T573T		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	573					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						CGCGGCGCACGGTGGGCTTGG	0.766													A	70698105	G	A	70698105	2	1	180	1	0	0	0	0	0	0	0	1	9963	1103	39	1		1	MTSS1L	16	70698105	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	12962250	70698105	19656648	276	96807											
CNTNAP4	85445	broad.mit.edu	37	chr16	76513436	76513436	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatattgcaatatgaccgGtgagttaatcagcttttatt	7	6	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:76513436G>A	uc002feu.1	+	14	2267	c.1882_splice	c.e14+1	p.E628_splice	CNTNAP4_uc002fev.1_Splice_Site_p.E492_splice|CNTNAP4_uc010chb.1_Splice_Site_p.E555_splice|CNTNAP4_uc002fex.1_Splice_Site_p.E631_splice|CNTNAP4_uc002few.2_Splice_Site_p.E603_splice	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1						cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AATATGACCGGTGAGTTAATC	0.333													A	76513436	G	A	76513436	5	1	180	1	0	0	0	0	0	0	1	0	3649	1275	44	4	1942	4	CNTNAP4	16	76513436	Splice_Site	SNP	G	TCGA-CG-4469-01A-01D-1158-08	5815331	76513436	13841317	277	96808											
CDYL2	124359	broad.mit.edu	37	chr16	80718652	80718652	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtagtcctgtaagacaccgtCttggtggccctgtcacctcc	10	14	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr16:80718652C>A	uc002ffs.2	-	2	504	c.399G>T	c.(397-399)AAG>AAT	p.K133N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	133						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						AAGACACCGTCTTGGTGGCCC	0.537													A	80718652	C	A	80718652	3	1	180	1	0	0	0	0	1	0	0	0	3186	912	32	5	1145	5	CDYL2	16	80718652	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4205216	80718652	9636101	278	96809											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(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.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578212	G	A	7578212	4	1	180	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08		7578212	73616998	279	96810											
DNAH9	1770	broad.mit.edu	37	chr17	11726122	11726122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctttggttttagcccaCagtaaagcagtcgattagca	9	9	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:11726122C>T	uc002gne.2	+	48	9085	c.9017C>T	c.(9016-9018)ACA>ATA	p.T3006I	DNAH9_uc010coo.2_Missense_Mutation_p.T2300I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3006	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TTTTAGCCCACAGTAAAGCAG	0.448													T	11726122	C	T	11726122	3	4	180	1	0	0	0	0	1	0	0	0	4608	478	17	4	9207	4	DNAH9	17	11726122	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4147910	11726122	69469088	280	96811											
KCNJ12	3768	broad.mit.edu	37	chr17	21319086	21319086	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgagacgcagaccaccatCggctacgggctgcgctgtgt	13	13	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:21319086C>T	uc002gyv.1	+	3	1137	c.432C>T	c.(430-432)ATC>ATT	p.I144I		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	144	Selectivity filter (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	AGACCACCATCGGCTACGGGC	0.647										Prostate(3;0.18)			T	21319086	C	T	21319086	2	4	180	1	0	0	0	0	0	0	0	1	8046	874	31	1		1	KCNJ12	17	21319086	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	9592964	21319086	59876124	281	96812											
SLFN5	162394	broad.mit.edu	37	chr17	33592742	33592742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgtcggatgttctaacCgatcacattgtgttggacag	12	8	2	0	rs148974561		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:33592742C>T	uc002hjf.3	+	5	2628	c.2511C>T	c.(2509-2511)ACC>ACT	p.T837T	SLFN5_uc010wcg.1_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	837					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATGTTCTAACCGATCACATTG	0.483													T	33592742	C	T	33592742	2	4	180	1	0	0	0	0	0	0	0	1	14737	639	23	1		1	SLFN5	17	33592742	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	12273656	33592742	47602468	282	96813											
SRCIN1	80725	broad.mit.edu	37	chr17	36707421	36707421	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccactgggctccgttcGgggggctgccttctggccgt	14	16	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:36707421G>A	uc002hqd.2	-	15	3157	c.2932C>T	c.(2932-2934)CGA>TGA	p.R978*	SRCIN1_uc002hqf.1_Nonsense_Mutation_p.R850*|SRCIN1_uc002hqe.2_Nonsense_Mutation_p.R832*	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	850	Pro-rich.			R -> K (in Ref. 6; AA sequence).	exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGCTCCGTTCGGGGGGCTGCC	0.687													A	36707421	G	A	36707421	4	1	180	1	0	0	0	0	0	1	0	0	15135	1124	39	1	639	1	SRCIN1	17	36707421	Nonsense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	3114679	36707421	44487789	283	96814											
ERBB2	2064	broad.mit.edu	37	chr17	37879658	37879658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatcctcatcaagcgacGgcagcagaagatccggaagt	13	10	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:37879658G>A	uc002hso.2	+	17	2271	c.2033G>A	c.(2032-2034)CGG>CAG	p.R678Q	ERBB2_uc002hsm.2_Missense_Mutation_p.R648Q|ERBB2_uc010cwa.2_Missense_Mutation_p.R663Q|ERBB2_uc002hsp.2_Missense_Mutation_p.R481Q|ERBB2_uc010cwb.2_Missense_Mutation_p.R678Q|ERBB2_uc010wek.1_Missense_Mutation_p.R402Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	678	Cytoplasmic (Potential).				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			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	ATCAAGCGACGGCAGCAGAAG	0.637		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			A	37879658	G	A	37879658	3	1	180	1	0	0	0	0	1	0	0	0	5206	1116	39	1	2099	1	ERBB2	17	37879658	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1172237	37879658	43315552	284	96815											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39388788	39388788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccttgctgtcagcctaCctgctgcaggaccacctgct	8	18	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:39388788C>A	uc010wfq.1	+	1	37	c.35C>A	c.(34-36)ACC>AAC	p.T12N		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	12						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTCAGCCTACCTGCTGCAGG	0.597													A	39388788	C	A	39388788	3	1	180	1	0	0	0	0	1	0	0	0	8577	507	18	5		5	KRTAP9-9	17	39388788	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1509130	39388788	41806422	285	96816											
KRT33A	3883	broad.mit.edu	37	chr17	39502714	39502714	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgacttgcagtcctcgctCtccagcaggctccggtacgt	10	15	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:39502714C>G	uc002hwk.1	-	6	1120	c.1083G>C	c.(1081-1083)GAG>GAC	p.E361D		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	361	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				AGTCCTCGCTCTCCAGCAGGC	0.537													G	39502714	C	G	39502714	3	3	180	1	0	0	0	0	1	0	0	0	8469	912	32	5	139	5	KRT33A	17	39502714	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	113926	39502714	41692496	286	96817											
C17orf104	284071	broad.mit.edu	37	chr17	42744389	42744389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagacacctacacaaaGttatttcaggttaagccagc	8	10	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:42744389G>A	uc010czv.2	+	5	1110	c.1110G>A	c.(1108-1110)AAG>AAA	p.K370K	C17orf104_uc002igy.1_Silent_p.K204K|C17orf104_uc002igz.3_Silent_p.K204K|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Silent_p.K204K	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	370										central_nervous_system(1)	1						CCTACACAAAGTTATTTCAGG	0.383													A	42744389	G	A	42744389	2	1	180	1	0	0	0	0	0	0	0	1	1851	1020	36	4		4	C17orf104	17	42744389	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	3241675	42744389	38450821	287	96818											
STXBP4	252983	broad.mit.edu	37	chr17	53237236	53237236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagaggagaatgaagaGgattgctctagagaactccc	12	9	2	5			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:53237236G>T	uc002iuf.1	+	18	1833	c.1626G>T	c.(1624-1626)GAG>GAT	p.E542D	STXBP4_uc010dcd.1_Missense_Mutation_p.E520D	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	542						cytoplasm	calcium ion binding			ovary(1)	1						AGAATGAAGAGGATTGCTCTA	0.443													T	53237236	G	T	53237236	3	4	180	1	0	0	0	0	1	0	0	0	15354	991	35	5	1688	5	STXBP4	17	53237236	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	10492847	53237236	27957974	288	96819											
COIL	8161	broad.mit.edu	37	chr17	55016467	55016467	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgatgtgttacttggagAttcaataatcagtcttgggt	10	5	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:55016467A>T	uc002iuu.2	-	7	1727	c.1696T>A	c.(1696-1698)TCT>ACT	p.S566T		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	566						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					TTACTTGGAGATTCAATAATC	0.373													T	55016467	A	T	55016467	3	4	180	1	0	0	0	0	1	0	0	0	3665	333	12	5	38	5	COIL	17	55016467	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1779231	55016467	26178743	289	96820											
RNF43	54894	broad.mit.edu	37	chr17	56438164	56438164	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcccctcagagaactcctCcagacagatggcacacacag	8	16	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr17:56438164C>A	uc002iwf.2	-	6	2785	c.829G>T	c.(829-831)GAG>TAG	p.E277*	RNF43_uc010wnv.1_Nonsense_Mutation_p.E236*|RNF43_uc002iwh.3_Nonsense_Mutation_p.E277*|RNF43_uc002iwg.3_Nonsense_Mutation_p.E277*|RNF43_uc010dcw.2_Nonsense_Mutation_p.E150*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	277	RING-type; atypical.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAACTCCTCCAGACAGATG	0.652													A	56438164	C	A	56438164	4	1	180	1	0	0	0	0	0	1	0	0	13495	864	30	5	1538	5	RNF43	17	56438164	Nonsense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1421697	56438164	24757046	290	96821											
LAMA1	284217	broad.mit.edu	37	chr18	6977733	6977733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccaaactcacagaagctGcttgtttgcgggcctggctg	12	13	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:6977733G>A	uc002knm.2	-	44	6432	c.6338C>T	c.(6337-6339)GCA>GTA	p.A2113V	LAMA1_uc010wzj.1_Missense_Mutation_p.A1589V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2113	Domain II and I.|Potential.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACAGAAGCTGCTTGTTTGCG	0.502													A	6977733	G	A	6977733	3	1	180	1	0	0	0	0	1	0	0	0	8605	1319	46	2	2969	2	LAMA1	18	6977733	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08		6977733	71099515	291	96822											
PSMG2	56984	broad.mit.edu	37	chr18	12724536	12724536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggcagttctgctgaaatTtgtttcagaaggggacaaca	11	6	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:12724536T>G	uc002krk.2	+	6	663	c.620T>G	c.(619-621)TTT>TGT	p.F207C	PSMG2_uc002krg.2_Missense_Mutation_p.F176C|PSMG2_uc002krj.1_Missense_Mutation_p.F207C	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	207					proteasome assembly	nucleus	protein binding				0						CTGCTGAAATTTGTTTCAGAA	0.363													G	12724536	T	G	12724536	3	3	180	1	0	0	0	0	1	0	0	0	12712	1841	64	5	642	5	PSMG2	18	12724536	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	5746803	12724536	65352712	292	96823											
C18orf8	29919	broad.mit.edu	37	chr18	21096377	21096377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccgaaagagacatcgcaAtggctaccatgtatgtccgt	9	10	0	1	rs148477145		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:21096377A>G	uc010xax.1	+	7	764	c.643A>G	c.(643-645)ATG>GTG	p.M215V	C18orf8_uc010xau.1_Missense_Mutation_p.M58V|C18orf8_uc010xav.1_Missense_Mutation_p.M167V|C18orf8_uc010xaw.1_Missense_Mutation_p.M58V|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	215										ovary(1)	1	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)					AGACATCGCAATGGCTACCAT	0.443											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	21096377	A	G	21096377	3	3	180	1	0	0	0	0	1	0	0	0	1907	101	4	3	669	3	C18orf8	18	21096377	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	8371841	21096377	56980871	293	96824											
ST8SIA5	29906	broad.mit.edu	37	chr18	44266172	44266172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgttgatctccctcccGcagcggctgttcttcaagat	10	14	3	2	rs143784819		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:44266172G>A	uc002lcj.1	-	5	1102	c.534C>T	c.(532-534)TGC>TGT	p.C178C	ST8SIA5_uc002lci.1_Silent_p.C25C|ST8SIA5_uc010xcy.1_Silent_p.C214C|ST8SIA5_uc010xcz.1_Silent_p.C147C	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	178	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TCTCCCTCCCGCAGCGGCTGT	0.587													A	44266172	G	A	44266172	2	1	180	1	0	0	0	0	0	0	0	1	15234	1079	38	1		1	ST8SIA5	18	44266172	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	23169795	44266172	33811076	294	96825											
SMAD4	4089	broad.mit.edu	37	chr18	48573594	48573594	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aattggattctttaataacaGctataactacaaatggagct	6	6	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:48573594G>C	uc010xdp.1	+	2	716	c.178G>C	c.(178-180)GCT>CCT	p.A60P	SMAD4_uc010xdo.1_RNA	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	60	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?(35)|p.?(5)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		TTTAATAACAGCTATAACTAC	0.358									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				C	48573594	G	C	48573594	3	2	180	1	0	0	0	0	1	0	0	0	14760	971	34	5	180	5	SMAD4	18	48573594	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	4307422	48573594	29503654	295	96826											
MC4R	4160	broad.mit.edu	37	chr18	58039324	58039324	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccagcatatcagccacagCcaagctgcagatgaaaaagt	8	12	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:58039324C>G	uc002lie.1	-	1	678	c.259G>C	c.(259-261)GCT>CCT	p.A87P		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	87	Helical; Name=2; (Potential).				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			lung(1)	1		Colorectal(73;0.0946)				TCAGCCACAGCCAAGCTGCAG	0.428													G	58039324	C	G	58039324	3	3	180	1	0	0	0	0	1	0	0	0	9366	739	26	5	743	5	MC4R	18	58039324	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	9465730	58039324	20037924	296	96827											
CDH20	28316	broad.mit.edu	37	chr18	59221915	59221915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcgtcggagggacccgCgccgctgtggtgacggaagc	20	12	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:59221915C>T	uc010dps.1	+	11	2405	c.2393C>T	c.(2392-2394)GCG>GTG	p.A798V	CDH20_uc002lif.2_Missense_Mutation_p.A792V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	798	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				GAGGGACCCGCGCCGCTGTGG	0.677													T	59221915	C	T	59221915	3	4	180	1	0	0	0	0	1	0	0	0	3106	768	27	1	2435	1	CDH20	18	59221915	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1182591	59221915	18855333	297	96828											
CDH7	1005	broad.mit.edu	37	chr18	63489412	63489412	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatggttggtcaaaatggaGgactgtcaggaactacatca	11	6	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr18:63489412G>T	uc002ljz.2	+	5	1046	c.721G>T	c.(721-723)GGA>TGA	p.G241*	CDH7_uc002lka.2_Nonsense_Mutation_p.G241*|CDH7_uc002lkb.2_Nonsense_Mutation_p.G241*	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	241	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TCAAAATGGAGGACTGTCAGG	0.433													T	63489412	G	T	63489412	4	4	180	1	0	0	0	0	0	1	0	0	3115	1001	35	5	735	5	CDH7	18	63489412	Nonsense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	4267497	63489412	14587836	298	96829											
POLRMT	5442	broad.mit.edu	37	chr19	629604	629604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcttccgcttctgcCgctggccgtggtggacgacc	14	14	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:629604C>T	uc002lpf.1	-	3	814	c.758G>A	c.(757-759)CGG>CAG	p.R253Q		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	253					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		CCGCTTCTGCCGCTGGCCGTG	0.672													T	629604	C	T	629604	3	4	180	1	0	0	0	0	1	0	0	0	12238	652	23	1	3010	1	POLRMT	19	629604	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08		629604	58499379	299	96830											
GIPC3	126326	broad.mit.edu	37	chr19	3589487	3589487	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaaatgtccagtagaggcGaaagtgaccagcgggaggga	16	7	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:3589487G>A	uc002lyd.3	+	4	666	c.639G>A	c.(637-639)GCG>GCA	p.A213A		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	213										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTAGAGGCGAAAGTGACCA	0.453													A	3589487	G	A	3589487	2	1	180	1	0	0	0	0	0	0	0	1	6394	1045	37	1		1	GIPC3	19	3589487	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	2959883	3589487	55539496	300	96831											
FBN3	84467	broad.mit.edu	37	chr19	8162226	8162226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcggggcactcgcagCggaaactcccgatctggttt	13	13	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:8162226C>T	uc002mjf.2	-	41	5255	c.5234G>A	c.(5233-5235)CGC>CAC	p.R1745H		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1745	EGF-like 26; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCACTCGCAGCGGAAACTCCC	0.592													T	8162226	C	T	8162226	3	4	180	1	0	0	0	0	1	0	0	0	5704	768	27	1	3287	1	FBN3	19	8162226	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4572739	8162226	50966757	301	96832											
ANGPTL4	51129	broad.mit.edu	37	chr19	8430901	8430901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtggcccagcagcagCggcacctggagaagcagcac	14	13	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:8430901C>T	uc002mjq.1	+	2	577	c.382C>T	c.(382-384)CGG>TGG	p.R128W	ANGPTL4_uc002mjr.1_Missense_Mutation_p.R128W|ANGPTL4_uc010xkc.1_5'UTR	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	128	Potential.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						CCAGCAGCAGCGGCACCTGGA	0.562													T	8430901	C	T	8430901	3	4	180	1	0	0	0	0	1	0	0	0	616	759	27	1	388	1	ANGPTL4	19	8430901	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	268675	8430901	50698082	302	96833											
ZNF93	81931	broad.mit.edu	37	chr19	20044880	20044880	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacattacaaatgtgaAgaatgtggcaaagccttcat	8	6	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:20044880A>C	uc002non.2	+	4	1227	c.1116A>C	c.(1114-1116)GAA>GAC	p.E372D		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	372	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						ACAAATGTGAAGAATGTGGCA	0.393													C	20044880	A	C	20044880	3	2	180	1	0	0	0	0	1	0	0	0	18199	69	3	5	1130	5	ZNF93	19	20044880	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	11613979	20044880	39084103	303	96834											
ZNF208	7757	broad.mit.edu	37	chr19	22156673	22156673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtatgaattttcTtatgataactaagggttgag	8	6	2	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:22156673T>C	uc002nqp.2	-	4	1312	c.1163A>G	c.(1162-1164)AAG>AGG	p.K388R	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAATTTTCTTATGATAACT	0.373													C	22156673	T	C	22156673	3	2	180	1	0	0	0	0	1	0	0	0	17763	1609	56	3	2683	3	ZNF208	19	22156673	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	2111793	22156673	36972310	304	96835											
ZNF208	7757	broad.mit.edu	37	chr19	22157209	22157209	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggttgaggaccagttaaaAgctttgccaccttcttcaca	9	10	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:22157209A>C	uc002nqp.2	-	4	776	c.627T>G	c.(625-627)GCT>GCG	p.A209A	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCAGTTAAAAGCTTTGCCAC	0.363													C	22157209	A	C	22157209	2	2	180	1	0	0	0	0	0	0	0	1	17763	59	3	5		5	ZNF208	19	22157209	Silent	SNP	A	TCGA-CG-4469-01A-01D-1158-08	536	22157209	36971774	305	96836											
ZNF302	55900	broad.mit.edu	37	chr19	35174131	35174131	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccctggatgatggagaaaAaactgtcaaaaggtatgatt	11	5	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:35174131A>T	uc002nvr.1	+	5	597	c.334A>T	c.(334-336)AAA>TAA	p.K112*	ZNF302_uc010xrz.1_Nonsense_Mutation_p.K69*|ZNF302_uc002nvp.1_Nonsense_Mutation_p.K68*|ZNF302_uc002nvq.1_Nonsense_Mutation_p.K68*|ZNF302_uc002nvs.1_Nonsense_Mutation_p.K68*	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	Error:Variant_position_missing_in_Q9NR11_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			GATGGAGAAAAAACTGTCAAA	0.368													T	35174131	A	T	35174131	4	4	180	1	0	0	0	0	0	1	0	0	17829	15	1	5	212	5	ZNF302	19	35174131	Nonsense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	13016922	35174131	23954852	306	96837											
ZNF568	374900	broad.mit.edu	37	chr19	37413699	37413699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcaatcttcagtgatcagCaatagctgtgtgacaatgga	9	8	4	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:37413699C>A	uc002ofc.2	+	3	542	c.27C>A	c.(25-27)AGC>AGA	p.S9R	ZNF568_uc010efg.2_5'UTR|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Intron|ZNF568_uc010efe.2_Intron|ZNF568_uc010eff.1_5'UTR	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGTGATCAGCAATAGCTGTG	0.502													A	37413699	C	A	37413699	3	1	180	1	0	0	0	0	1	0	0	0	17996	709	25	5	29	5	ZNF568	19	37413699	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2239568	37413699	21715284	307	96838											
RYR1	6261	broad.mit.edu	37	chr19	38980888	38980888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactgcaagacgtacccGcgagttccgctccccacccc	9	18	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:38980888G>A	uc002oit.2	+	36	6117	c.5987G>A	c.(5986-5988)CGC>CAC	p.R1996H	RYR1_uc002oiu.2_Missense_Mutation_p.R1996H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1996	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGACGTACCCGCGAGTTCCGC	0.577													A	38980888	G	A	38980888	3	1	180	1	0	0	0	0	1	0	0	0	13768	1087	38	1	6129	1	RYR1	19	38980888	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1567189	38980888	20148095	308	96839											
SYT3	84258	broad.mit.edu	37	chr19	51135608	51135608	+	Frame_Shift_Del	DEL	G	G	-													ctgggcaagcccccaccactGgggggcagcaggagcaaccc							TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:51135608delG	uc002pst.2	-	2	1243	c.609delC	c.(607-609)CCCfs	p.P203fs	SYT3_uc002psv.2_Frame_Shift_Del_p.P203fs|SYT3_uc010ycd.1_Frame_Shift_Del_p.P203fs	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	203	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCCACCACTGGGGGGCAGCA	0.647													-	51135608	G	-	51135608	7	5	180	1	0	1	0	1	0	0	0	0	15472	1335	47	0	1191	0	SYT3	19	51135608	Frame_Shift_Del	DEL	G	TCGA-CG-4469-01A-01D-1158-08	12154720	51135608	7993375	309	96840											
CD33	945	broad.mit.edu	37	chr19	51742916	51742916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccaaggacacctccacCgaatactcagaggtcaggac	8	15	2	1	rs61736476	byFrequency	TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:51742916C>T	uc002pwa.2	+	7	1108	c.1068C>T	c.(1066-1068)ACC>ACT	p.T356T	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Silent_p.T229T|CD33_uc010eou.1_RNA	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	356	ITIM motif 2.|Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ACACCTCCACCGAATACTCAG	0.532													T	51742916	C	T	51742916	2	4	180	1	0	0	0	0	0	0	0	1	3005	639	23	1		1	CD33	19	51742916	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	607308	51742916	7386067	310	96841											
ZNF83	55769	broad.mit.edu	37	chr19	53116874	53116874	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcattacatttgtaaggtTtctctccagtatgaattctc	5	9	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:53116874T>G	uc002pzu.3	-	2	2188	c.944A>C	c.(943-945)AAA>ACA	p.K315T	ZNF83_uc002pzv.3_Missense_Mutation_p.K315T|ZNF83_uc010eps.2_Missense_Mutation_p.K287T|ZNF83_uc010ept.2_Missense_Mutation_p.K315T|ZNF83_uc010epu.2_Missense_Mutation_p.K315T|ZNF83_uc010epv.2_Missense_Mutation_p.K315T|ZNF83_uc010epw.2_Missense_Mutation_p.K315T|ZNF83_uc010epx.2_Missense_Mutation_p.K287T|ZNF83_uc010epy.2_Missense_Mutation_p.K315T|ZNF83_uc010epz.2_Missense_Mutation_p.K287T	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	315						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTGTAAGGTTTCTCTCCAGT	0.408													G	53116874	T	G	53116874	3	3	180	1	0	0	0	0	1	0	0	0	18180	1841	64	5	610	5	ZNF83	19	53116874	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1373958	53116874	6012109	311	96842											
LILRB3	11025	broad.mit.edu	37	chr19	54746095	54746095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagttggtactcctgggcCtccaggctcccctgacacca	9	17	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:54746095C>T	uc010erh.1	-	3	286	c.162G>A	c.(160-162)GAG>GAA	p.E54E	LILRA6_uc002qew.1_Silent_p.E54E|LILRB3_uc002qeh.1_Silent_p.E54E|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.E54E|LILRA6_uc002qek.1_Silent_p.E54E|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.E54E|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.E54E|LILRB3_uc002qep.1_Silent_p.E54E|LILRB3_uc002qeq.1_Silent_p.E54E|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.E54E|LILRA6_uc010yep.1_Silent_p.E54E|LILRA6_uc010yeq.1_Silent_p.E54E|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.E54E|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	54	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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)		ACTCCTGGGCCTCCAGGCTCC	0.592													T	54746095	C	T	54746095	2	4	180	1	0	0	0	0	0	0	0	1	8792	680	24	4		4	LILRB3	19	54746095	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1629221	54746095	4382888	312	96843											
LILRB4	11006	broad.mit.edu	37	chr19	55175267	55175267	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctctgtgatcagctggggGaactctgtgaccatctggtg	15	9	4	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:55175267G>A	uc002qgp.2	+	3	488	c.126G>A	c.(124-126)GGG>GGA	p.G42G	LILRB4_uc002qgo.1_Silent_p.G83G|LILRB4_uc002qgq.2_Silent_p.G42G|LILRB4_uc010ers.1_5'UTR|LILRB4_uc002qgr.2_Silent_p.G83G|LILRB4_uc010ert.2_Silent_p.G83G|LILRB4_uc010eru.2_Silent_p.G71G	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	42	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		TCAGCTGGGGGAACTCTGTGA	0.607													A	55175267	G	A	55175267	2	1	180	1	0	0	0	0	0	0	0	1	8793	1161	41	4		4	LILRB4	19	55175267	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	429172	55175267	3953716	313	96844											
NLRP9	338321	broad.mit.edu	37	chr19	56244335	56244335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatgagttttggatgccGcaacataaaatagtgttttt	8	5	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:56244335G>A	uc002qly.2	-	2	890	c.862C>T	c.(862-864)CGG>TGG	p.R288W		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	288	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTGGATGCCGCAACATAAAA	0.378													A	56244335	G	A	56244335	3	1	180	1	0	0	0	0	1	0	0	0	10484	1086	38	1	2145	1	NLRP9	19	56244335	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1069068	56244335	2884648	314	96845											
PEG3	5178	broad.mit.edu	37	chr19	57328918	57328918	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatcccccgccggtgggttgAttttttggcttcaggcatag	12	10	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:57328918A>T	uc002qnu.2	-	7	1243	c.892T>A	c.(892-894)TCA>ACA	p.S298T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S269T|PEG3_uc002qnv.2_Missense_Mutation_p.S298T|PEG3_uc002qnw.2_Missense_Mutation_p.S174T|PEG3_uc002qnx.2_Missense_Mutation_p.S172T|PEG3_uc010etr.2_Missense_Mutation_p.S298T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	298					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGGTGGGTTGATTTTTTGGCT	0.468													T	57328918	A	T	57328918	3	4	180	1	0	0	0	0	1	0	0	0	11720	333	12	5	3878	5	PEG3	19	57328918	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	1084583	57328918	1800065	315	96846											
PEG3	5178	broad.mit.edu	37	chr19	57335020	57335020	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttccgggtcatgtcgtcgTcgctggtcacgtcactgttg	13	11	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:57335020T>G	uc002qnu.2	-	2	773	c.422A>C	c.(421-423)GAC>GCC	p.D141A	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.D15A|ZIM2_uc002qnq.2_Missense_Mutation_p.D15A|ZIM2_uc010etp.2_Missense_Mutation_p.D15A|ZIM2_uc010ygs.1_Missense_Mutation_p.D15A|PEG3_uc002qnt.2_Missense_Mutation_p.D141A|PEG3_uc002qnv.2_Missense_Mutation_p.D141A|PEG3_uc002qnw.2_Missense_Mutation_p.D15A|PEG3_uc002qnx.2_Missense_Mutation_p.D15A|PEG3_uc010etr.2_Missense_Mutation_p.D141A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	141					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATGTCGTCGTCGCTGGTCAC	0.557													G	57335020	T	G	57335020	3	3	180	1	0	0	0	0	1	0	0	0	11720	1667	58	5	4374	5	PEG3	19	57335020	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	6102	57335020	1793963	316	96847											
ZNF551	90233	broad.mit.edu	37	chr19	58198842	58198842	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagtgtgggaaatcctTtagacaaatcttcaatctca	8	8	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr19:58198842T>G	uc002qpw.3	+	3	1374	c.1151T>G	c.(1150-1152)TTT>TGT	p.F384C	ZNF551_uc002qpv.3_Missense_Mutation_p.F327C|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	400	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		GGGAAATCCTTTAGACAAATC	0.433													G	58198842	T	G	58198842	3	3	180	1	0	0	0	0	1	0	0	0	17980	1841	64	5	1161	5	ZNF551	19	58198842	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	863822	58198842	930141	317	96848											
SSTR4	6754	broad.mit.edu	37	chr20	23016664	23016664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtcactctccccatcGccatcttcgcagacaccaga	7	16	3	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr20:23016664G>A	uc002wsr.2	+	1	608	c.544G>A	c.(544-546)GCC>ACC	p.A182T		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	182	Helical; Name=4; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTCCCCATCGCCATCTTCGC	0.692													A	23016664	G	A	23016664	3	1	180	1	0	0	0	0	1	0	0	0	15199	1087	38	1	546	1	SSTR4	20	23016664	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08		23016664	40008856	318	96849											
SUN5	140732	broad.mit.edu	37	chr20	31577434	31577434	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcacctacctatagacTtcagggcaaagtctggcttt	11	10	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr20:31577434T>G	uc002wyi.2	-	9	698	c.605A>C	c.(604-606)AAG>ACG	p.K202T		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	202					spermatogenesis					skin(1)	1						ACCTATAGACTTCAGGGCAAA	0.488													G	31577434	T	G	31577434	3	3	180	1	0	0	0	0	1	0	0	0	15391	1609	56	5	554	5	SUN5	20	31577434	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	8560770	31577434	31448086	319	96850											
CEP250	11190	broad.mit.edu	37	chr20	34090802	34090802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagaacttgagaagaaagaCcaaatgattgagtcccagag	10	7	0	7			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr20:34090802C>A	uc002xcm.2	+	31	5276	c.4605C>A	c.(4603-4605)GAC>GAA	p.D1535E	CEP250_uc010zve.1_Missense_Mutation_p.D903E	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1535	Gln/Glu-rich.|Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGAAGAAAGACCAAATGATTG	0.502													A	34090802	C	A	34090802	3	1	180	1	0	0	0	0	1	0	0	0	3252	506	18	5	4711	5	CEP250	20	34090802	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	2513368	34090802	28934718	320	96851											
NCAM2	4685	broad.mit.edu	37	chr21	22782648	22782648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactcttgggaaggaaatcCtatcaatataagttgtgatg	9	5	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr21:22782648C>T	uc002yld.1	+	10	1499	c.1250C>T	c.(1249-1251)CCT>CTT	p.P417L	NCAM2_uc011acb.1_Missense_Mutation_p.P275L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	417	Ig-like C2-type 5.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		GAAGGAAATCCTATCAATATA	0.308													T	22782648	C	T	22782648	3	4	180	1	0	0	0	0	1	0	0	0	10203	681	24	4	1288	4	NCAM2	21	22782648	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08		22782648	25347247	321	96852											
APP	351	broad.mit.edu	37	chr21	27347535	27347535	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagattccactttctcctGgaaatgctgccatcataaac	5	12	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr21:27347535G>A	uc002ylz.2	-	11	1506	c.1306C>T	c.(1306-1308)CAG>TAG	p.Q436*	APP_uc010glk.2_Nonsense_Mutation_p.Q412*|APP_uc002yma.2_Nonsense_Mutation_p.Q417*|APP_uc011ach.1_Nonsense_Mutation_p.Q380*|APP_uc002ymb.2_Nonsense_Mutation_p.Q361*|APP_uc010glj.2_Nonsense_Mutation_p.Q305*|APP_uc011aci.1_Nonsense_Mutation_p.Q326*	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	436	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				ACTTTCTCCTGGAAATGCTGC	0.463													A	27347535	G	A	27347535	4	1	180	1	0	0	0	0	0	1	0	0	815	1357	47	4	1038	4	APP	21	27347535	Nonsense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	4564887	27347535	20782360	322	96853											
TIAM1	7074	broad.mit.edu	37	chr21	32526634	32526634	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttatctgcatccgagagTtgtctcatggtcgccagctg	11	11	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr21:32526634T>G	uc002yow.1	-	18	3574	c.3102A>C	c.(3100-3102)CAA>CAC	p.Q1034H	TIAM1_uc011adk.1_Missense_Mutation_p.Q1034H|TIAM1_uc011adl.1_Missense_Mutation_p.Q974H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1034					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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CATCCGAGAGTTGTCTCATGG	0.582													G	32526634	T	G	32526634	3	3	180	1	0	0	0	0	1	0	0	0	15887	1722	60	5	1721	5	TIAM1	21	32526634	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	5179099	32526634	15603261	323	96854											
CECR5	27440	broad.mit.edu	37	chr22	17622071	17622071	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctgaggaggacatccatGatcagctgcaggctggtctc	13	10	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr22:17622071G>A	uc002zmf.2	-	6	652	c.624C>T	c.(622-624)ATC>ATT	p.I208I	CECR5_uc002zmd.2_Silent_p.I19I|CECR5_uc002zme.2_5'UTR|CECR5_uc002zmg.2_Silent_p.I71I|CECR5_uc002zmh.2_Silent_p.I178I	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	208							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GGACATCCATGATCAGCTGCA	0.647													A	17622071	G	A	17622071	2	1	180	1	0	0	0	0	0	0	0	1	3207	1280	45	4		4	CECR5	22	17622071	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08		17622071	33682495	324	96855											
AIFM3	150209	broad.mit.edu	37	chr22	21327698	21327698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctaccagggcaatggcaCggcccgccacttccacacgg	12	17	0	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr22:21327698C>T	uc002ztj.2	+	3	352	c.134C>T	c.(133-135)ACG>ATG	p.T45M	AIFM3_uc002ztk.2_Missense_Mutation_p.T45M|AIFM3_uc002ztl.2_Missense_Mutation_p.T51M|AIFM3_uc011ahx.1_Missense_Mutation_p.R70W|AIFM3_uc002ztm.1_5'Flank	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	45					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	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)			GGCAATGGCACGGCCCGCCAC	0.672													T	21327698	C	T	21327698	3	4	180	1	0	0	0	0	1	0	0	0	428	536	19	1	158	1	AIFM3	22	21327698	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	3705627	21327698	29976868	325	96856											
SUSD2	56241	broad.mit.edu	37	chr22	24581668	24581668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgctgctacacagcGgacgggacgcagctcctgac	13	14	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr22:24581668G>A	uc002zzn.1	+	8	1154	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	370	AMOP.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GCTACACAGCGGACGGGACGC	0.701													A	24581668	G	A	24581668	2	1	180	1	0	0	0	0	0	0	0	1	15405	1103	39	1		1	SUSD2	22	24581668	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	3253970	24581668	26722898	326	96857											
CRYBB2	1415	broad.mit.edu	37	chr22	25627692	25627692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtccgtgcgccgtatcCgcgacatgcagtggcaccaa	12	14	0	0	rs148209404		TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr22:25627692C>T	uc003abp.1	+	6	619	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_000496	NP_000487	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens				0						GCGCCGTATCCGCGACATGCA	0.652													T	25627692	C	T	25627692	3	4	180	1	0	0	0	0	1	0	0	0	3911	652	23	1	589	1	CRYBB2	22	25627692	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08	1046024	25627692	25676874	327	96858											
CACNA1I	8911	broad.mit.edu	37	chr22	40055011	40055011	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctgcgcgtgctgaaActggtgcgcttcatgcctgc	14	13	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr22:40055011A>C	uc003ayc.2	+	12	2220	c.2220A>C	c.(2218-2220)AAA>AAC	p.K740N	CACNA1I_uc003ayd.2_Missense_Mutation_p.K705N|CACNA1I_uc003aye.2_Missense_Mutation_p.K655N|CACNA1I_uc003ayf.2_Missense_Mutation_p.K620N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	740	Helical; Name=S4 of repeat II; (Potential).|II.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCGTGCTGAAACTGGTGCGCT	0.652													C	40055011	A	C	40055011	3	2	180	1	0	0	0	0	1	0	0	0	2546	40	2	5	2266	5	CACNA1I	22	40055011	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	14427319	40055011	11249555	328	96859											
ALG12	79087	broad.mit.edu	37	chr22	50307428	50307428	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccattccaggctttcagcTtcacgtaccttcacaggcca	7	15	3	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chr22:50307428T>A	uc003biy.2	-	2	260	c.-14A>T	c.(-16--12)GAAGC>GATGC			NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12						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					0		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)		GGCTTTCAGCTTCACGTACCT	0.587													A	50307428	T	A	50307428	1	1	180	1	0	0	0	0	0	0	0	0	514	1624	56	5		5	ALG12	22	50307428	Translation_Start_Site	SNP	T	TCGA-CG-4469-01A-01D-1158-08	10252417	50307428	997138	329	96860											
FAM48B1	100130302	broad.mit.edu	37	chrX	24382955	24382955	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctccaggttccgcagggctCggcggttctgaccggcccgc	14	17	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:24382955C>G	uc011mjx.1	+	1	2078	c.2078C>G	c.(2077-2079)TCG>TGG	p.S693W		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						CCGCAGGGCTCGGCGGTTCTG	0.627													G	24382955	C	G	24382955	3	3	180	1	0	0	0	0	1	0	0	0	5573	893	31	5	2080	5	FAM48B1	23	24382955	Missense_Mutation	SNP	C	TCGA-CG-4469-01A-01D-1158-08		24382955	130887605	330	96861											
MAGEB18	286514	broad.mit.edu	37	chrX	26157683	26157683	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtgatgaagaaaaaaTtcccaagactggcctcctga	8	10	0	5			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:26157683T>A	uc004dbq.1	+	2	768	c.581T>A	c.(580-582)ATT>AAT	p.I194N		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	194	MAGE.						protein binding			central_nervous_system(1)	1						GAAGAAAAAATTCCCAAGACT	0.448													A	26157683	T	A	26157683	3	1	180	1	0	0	0	0	1	0	0	0	9175	1493	52	5	583	5	MAGEB18	23	26157683	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	1774728	26157683	129112877	331	96862											
FOXR2	139628	broad.mit.edu	37	chrX	55650731	55650731	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaaaggccccctctcaAttgtagccaccttattgccc	7	16	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:55650731A>C	uc004duo.2	+	1	899	c.587A>C	c.(586-588)AAT>ACT	p.N196T		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	196	Fork-head.				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			lung(2)|central_nervous_system(1)	3						CCCCCTCTCAATTGTAGCCAC	0.488													C	55650731	A	C	55650731	3	2	180	1	0	0	0	0	1	0	0	0	6032	101	4	5	589	5	FOXR2	23	55650731	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	29493048	55650731	99619829	332	96863											
FAAH2	158584	broad.mit.edu	37	chrX	57367776	57367776	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgatattggtggtagcattcGaatgcctgctttcttcaatg	10	7	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:57367776G>C	uc004dvc.2	+	5	844	c.695G>C	c.(694-696)CGA>CCA	p.R232P		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	232						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						GGTAGCATTCGAATGCCTGCT	0.423										HNSCC(52;0.14)			C	57367776	G	C	57367776	3	2	180	1	0	0	0	0	1	0	0	0	5354	1058	37	5	713	5	FAAH2	23	57367776	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	1717045	57367776	97902784	333	96864											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913151	77913151	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtaactatacagctgaAccaggaactcaggaagcttc	8	10	2	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:77913151A>C	uc004edc.1	-	2	1063	c.767T>G	c.(766-768)GTT>GGT	p.V256G		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	256							nucleic acid binding|zinc ion binding			ovary(1)	1						ATACAGCTGAACCAGGAACTC	0.507													C	77913151	A	C	77913151	3	2	180	1	0	0	0	0	1	0	0	0	17588	43	2	5	664	5	ZCCHC5	23	77913151	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	20545375	77913151	77357409	334	96865											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913452	77913452	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggatcctggggttctgAattcttgggctcttgggcta	16	7	3	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:77913452A>C	uc004edc.1	-	2	762	c.466T>G	c.(466-468)TCA>GCA	p.S156A		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	156	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(1)	1						TGGGGTTCTGAATTCTTGGGC	0.557													C	77913452	A	C	77913452	3	2	180	1	0	0	0	0	1	0	0	0	17588	246	9	5	965	5	ZCCHC5	23	77913452	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	301	77913452	77357108	335	96866											
DACH2	117154	broad.mit.edu	37	chrX	86087115	86087115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttttttttaaggaggtaActattactgtttagaaatgg	8	3	1	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:86087115A>C	uc004eew.2	+	12	1927	c.1757A>C	c.(1756-1758)AAC>ACC	p.N586T	DACH2_uc004eex.2_3'UTR|DACH2_uc010nmq.2_Missense_Mutation_p.N452T|DACH2_uc011mra.1_Missense_Mutation_p.N419T|DACH2_uc010nmr.2_Missense_Mutation_p.N367T	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TAAGGAGGTAACTATTACTGT	0.338													C	86087115	A	C	86087115	3	2	180	1	0	0	0	0	1	0	0	0	4221	43	2	5	1812	5	DACH2	23	86087115	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	8173663	86087115	69183445	336	96867											
CSTF2	1478	broad.mit.edu	37	chrX	100078953	100078953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcttatgctttgctgcaaGcacaggtagtgatgagaatt	12	6	0	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:100078953G>C	uc004egh.2	+	5	581	c.523G>C	c.(523-525)GCA>CCA	p.A175P	CSTF2_uc010nnd.2_Missense_Mutation_p.A175P|CSTF2_uc004egi.2_Missense_Mutation_p.A175P	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	175	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						TTTGCTGCAAGCACAGGTAGT	0.473													C	100078953	G	C	100078953	3	2	180	1	0	0	0	0	1	0	0	0	3984	971	34	5	541	5	CSTF2	23	100078953	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	13991838	100078953	55191607	337	96868											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104512217	104512217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgaacaactgaattgaaAgttacaggtaggaatcagtt	10	5	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:104512217A>C	uc004elz.1	+	5	1446	c.690A>C	c.(688-690)AAA>AAC	p.K230N		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	230	Ig-like C2-type 2.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						CTGAATTGAAAGTTACAGGTA	0.338													C	104512217	A	C	104512217	3	2	180	1	0	0	0	0	1	0	0	0	7662	69	3	5	704	5	IL1RAPL2	23	104512217	Missense_Mutation	SNP	A	TCGA-CG-4469-01A-01D-1158-08	4433264	104512217	50758343	338	96869											
NRK	203447	broad.mit.edu	37	chrX	105153087	105153087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgccactacaggcacaggTtagggcacctaggcttctgc	11	13	1	0			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:105153087T>G	uc004emd.2	+	13	1757	c.1454T>G	c.(1453-1455)GTT>GGT	p.V485G	NRK_uc010npc.1_Missense_Mutation_p.V153G	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	485	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CAGGCACAGGTTAGGGCACCT	0.542										HNSCC(51;0.14)			G	105153087	T	G	105153087	3	3	180	1	0	0	0	0	1	0	0	0	10655	1725	60	5	1504	5	NRK	23	105153087	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	640870	105153087	50117473	339	96870											
IGSF1	3547	broad.mit.edu	37	chrX	130412103	130412103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaatgacaggtttggggaGgatgtctggaaaacagaatg	15	3	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:130412103G>A	uc004ewd.2	-	13	2285	c.2047C>T	c.(2047-2049)CTC>TTC	p.L683F	IGSF1_uc004ewe.3_Missense_Mutation_p.L677F|IGSF1_uc004ewf.2_Missense_Mutation_p.L663F	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	683	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						GGTTTGGGGAGGATGTCTGGA	0.493													A	130412103	G	A	130412103	3	1	180	1	0	0	0	0	1	0	0	0	7596	1000	35	4	1995	4	IGSF1	23	130412103	Missense_Mutation	SNP	G	TCGA-CG-4469-01A-01D-1158-08	25259016	130412103	24858457	340	96871											
GPR112	139378	broad.mit.edu	37	chrX	135427962	135427962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaatatttatccgcaacTaccaatatcaccccactgaa	3	13	1	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:135427962T>C	uc004ezu.1	+	6	2388	c.2097T>C	c.(2095-2097)ACT>ACC	p.T699T	GPR112_uc010nsb.1_Silent_p.T494T|GPR112_uc010nsc.1_Silent_p.T466T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	699	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TATCCGCAACTACCAATATCA	0.388													C	135427962	T	C	135427962	2	2	180	1	0	0	0	0	0	0	0	1	6629	1509	53	3		3	GPR112	23	135427962	Silent	SNP	T	TCGA-CG-4469-01A-01D-1158-08	5015859	135427962	19842598	341	96872											
SPANXN1	494118	broad.mit.edu	37	chrX	144337215	144337215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagacaccaaacagggacTtagcccccgaaccgagtttg	11	12	0	1			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:144337215T>G	uc004fcb.2	+	2	100	c.100T>G	c.(100-102)TTA>GTA	p.L34V		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	34											0	Acute lymphoblastic leukemia(192;6.56e-05)					AAACAGGGACTTAGCCCCCGA	0.418													G	144337215	T	G	144337215	3	3	180	1	0	0	0	0	1	0	0	0	14990	1606	56	5	106	5	SPANXN1	23	144337215	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	8909253	144337215	10933345	342	96873											
SLITRK2	84631	broad.mit.edu	37	chrX	144905446	144905446	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccctaaccaggctgaatctGagaaacaaccatttttctca	6	12	2	2			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:144905446G>C	uc004fcd.2	+	5	2493	c.1503G>C	c.(1501-1503)CTG>CTC	p.L501L	SLITRK2_uc010nsp.2_Silent_p.L501L|SLITRK2_uc010nso.2_Silent_p.L501L|SLITRK2_uc011mwq.1_Silent_p.L501L|SLITRK2_uc011mwr.1_Silent_p.L501L|SLITRK2_uc011mws.1_Silent_p.L501L|SLITRK2_uc004fcg.2_Silent_p.L501L|SLITRK2_uc011mwt.1_Silent_p.L501L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	501	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGAATCTGAGAAACAACC	0.483													C	144905446	G	C	144905446	2	2	180	1	0	0	0	0	0	0	0	1	14743	1277	45	5		5	SLITRK2	23	144905446	Silent	SNP	G	TCGA-CG-4469-01A-01D-1158-08	568231	144905446	10365114	343	96874											
AFF2	2334	broad.mit.edu	37	chrX	147967480	147967480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttgagcctgtgaagaccTtgaccactcagtgcactgcc	9	14	1	4			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:147967480T>G	uc004fcp.2	+	8	1803	c.1324T>G	c.(1324-1326)TTG>GTG	p.L442V	AFF2_uc004fco.2_Missense_Mutation_p.L403V|AFF2_uc004fcq.2_Missense_Mutation_p.L432V|AFF2_uc004fcr.2_Missense_Mutation_p.L403V|AFF2_uc011mxb.1_Missense_Mutation_p.L407V|AFF2_uc004fcs.2_Missense_Mutation_p.L409V|AFF2_uc011mxc.1_Missense_Mutation_p.L83V	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	442					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAAGACCTTGACCACTCA	0.498													G	147967480	T	G	147967480	3	3	180	1	0	0	0	0	1	0	0	0	357	1606	56	5	1409	5	AFF2	23	147967480	Missense_Mutation	SNP	T	TCGA-CG-4469-01A-01D-1158-08	3062034	147967480	7303080	344	96875											
ATP2B3	492	broad.mit.edu	37	chrX	152807854	152807854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagagctccctgacgggCgagtctgaccacgtgcgcaa	14	13	1	3			TCGA-CG-4469-01A-01D-1158-08	TCGA-CG-4469-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11822391-a723-4451-8df4-3cd94460f359	536a7968-51fb-4f27-afc5-5710b7922bea	g.chrX:152807854C>T	uc004fht.1	+	4	864	c.738C>T	c.(736-738)GGC>GGT	p.G246G	ATP2B3_uc004fhs.1_Silent_p.G246G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	246	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGACGGGCGAGTCTGACC	0.647													T	152807854	C	T	152807854	2	4	180	1	0	0	0	0	0	0	0	1	1141	755	27	1		1	ATP2B3	23	152807854	Silent	SNP	C	TCGA-CG-4469-01A-01D-1158-08	4840374	152807854	2462706	345	96876											
MTOR	2475	broad.mit.edu	37	chr1	11181417	11181417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagtcaagtggtcatagtcCggagccatctgcatcaggac	12	10	4	1	rs138151561	byFrequency	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:11181417C>A	uc001asd.2	-	49	6940	c.6819G>T	c.(6817-6819)CCG>CCT	p.P2273P	MTOR_uc001asc.2_Silent_p.P478P	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2273	PI3K/PI4K.				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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GGTCATAGTCCGGAGCCATCT	0.522													A	11181417	C	A	11181417	2	1	181	1	0	0	0	0	0	0	0	1	9954	639	23	5		5	MTOR	1	11181417	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08		11181417	238069204	1	96877											
MUL1	79594	broad.mit.edu	37	chr1	20827537	20827537	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttccagagcctgacgctCgactcctgcctctgcagcag	9	17	1	2	rs61753588		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:20827537C>T	uc001bdi.3	-	4	862	c.705G>A	c.(703-705)TCG>TCA	p.S235S		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	235	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCCTGACGCTCGACTCCTGCC	0.582													T	20827537	C	T	20827537	2	4	181	1	0	0	0	0	0	0	0	1	9984	871	31	1		1	MUL1	1	20827537	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	9646120	20827537	228423084	2	96878											
DEM1	64789	broad.mit.edu	37	chr1	40981216	40981216	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggccaccgagagccccagGgagttgacgtggaggaggct	18	10	0	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:40981216G>C	uc001cfp.2	+	3	1205	c.1000G>C	c.(1000-1002)GGA>CGA	p.G334R	DEM1_uc001cfq.2_Missense_Mutation_p.G334R|DEM1_uc001cfr.2_Missense_Mutation_p.G334R|DEM1_uc001cfs.2_Missense_Mutation_p.G334R	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	334							DNA binding|exonuclease activity				0						AGAGCCCCAGGGAGTTGACGT	0.562													C	40981216	G	C	40981216	3	2	181	1	0	0	0	0	1	0	0	0	4425	1233	43	5	1002	5	DEM1	1	40981216	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	20153679	40981216	208269405	3	96879											
ZSWIM5	57643	broad.mit.edu	37	chr1	45501806	45501806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagctgctcctcattaCggcataccttgtcctgtgcg	10	13	2	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:45501806C>T	uc001cnd.2	-	9	2288	c.2060G>A	c.(2059-2061)CGT>CAT	p.R687H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	687							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTCCTCATTACGGCATACCTT	0.522													T	45501806	C	T	45501806	3	4	181	1	0	0	0	0	1	0	0	0	18241	536	19	1	1521	1	ZSWIM5	1	45501806	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	4520590	45501806	203748815	4	96880											
C1orf190	541468	broad.mit.edu	37	chr1	46685674	46685674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctggggctccacgttccGagatggactgggcaaaagtt	13	11	0	1	rs138211805	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:46685674G>A	uc010oma.1	+	2	595	c.502G>A	c.(502-504)GAG>AAG	p.E168K	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	168					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					TCCACGTTCCGAGATGGACTG	0.617													A	46685674	G	A	46685674	3	1	181	1	0	0	0	0	1	0	0	0	2023	1059	37	1	508	1	C1orf190	1	46685674	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	1183868	46685674	202564947	5	96881											
BCL2L15	440603	broad.mit.edu	37	chr1	114429946	114429946	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctcaagaagtccatgagtaGagtgttcacaatgcattccg	10	9	2	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:114429946G>A	uc001edw.2	-	1	224	c.52C>T	c.(52-54)CTA>TTA	p.L18L	uc001edv.1_Intron|BCL2L15_uc001edx.2_Silent_p.L18L|BCL2L15_uc001edy.2_RNA|BCL2L15_uc001edz.1_RNA	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	pro-apoptotic Bcl-2 protein	18					apoptosis					ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-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)		TCCATGAGTAGAGTGTTCACA	0.448													A	114429946	G	A	114429946	2	1	181	1	0	0	0	0	0	0	0	1	1373	933	33	4		4	BCL2L15	1	114429946	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08	67744272	114429946	134820675	6	96882											
FLG	2312	broad.mit.edu	37	chr1	152286817	152286817	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttgtttttctcttttTtacttgagttatgatggttt	7	5	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:152286817T>G	uc001ezu.1	-	3	581	c.545A>C	c.(544-546)AAA>ACA	p.K182T	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	182					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTCTTTTTTACTTGAGTT	0.323									Ichthyosis				G	152286817	T	G	152286817	3	3	181	1	0	0	0	0	1	0	0	0	5922	1841	64	5	11644	5	FLG	1	152286817	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08	37856871	152286817	96963804	7	96883											
PVRL4	81607	broad.mit.edu	37	chr1	161043088	161043088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccctacactctcctccGgctgcagggcccagacacgg	10	18	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:161043088G>A	uc001fxo.2	-	8	1534	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	412	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACTCTCCTCCGGCTGCAGGGC	0.647													A	161043088	G	A	161043088	3	1	181	1	0	0	0	0	1	0	0	0	12842	1130	39	1	305	1	PVRL4	1	161043088	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	8756271	161043088	88207533	8	96884											
ACTN2	88	broad.mit.edu	37	chr1	236850010	236850010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgtgcagtacaactacGtgtacgacgaggatgagtac	13	10	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr1:236850010G>A	uc001hyf.2	+	1	241	c.37G>A	c.(37-39)GTG>ATG	p.V13M	ACTN2_uc001hyg.2_Translation_Start_Site|ACTN2_uc009xgi.1_Missense_Mutation_p.V13M	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	13	Actin-binding.				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			ovary(4)|skin(1)	5	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)			GTACAACTACGTGTACGACGA	0.642													A	236850010	G	A	236850010	3	1	181	1	0	0	0	0	1	0	0	0	205	1145	40	1	39	1	ACTN2	1	236850010	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	75806922	236850010	12400611	9	96885											
GALM	130589	broad.mit.edu	37	chr2	38908455	38908455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggtgctgtcaaatggcGtccagttctcgcgcatcagt	12	12	3	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:38908455G>A	uc002rqy.2	+	3	631	c.379G>A	c.(379-381)GTC>ATC	p.V127I		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	127					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				GTCAAATGGCGTCCAGTTCTC	0.488													A	38908455	G	A	38908455	3	1	181	1	0	0	0	0	1	0	0	0	6205	1145	40	1	389	1	GALM	2	38908455	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08		38908455	204290918	10	96886											
EIF2AK3	9451	broad.mit.edu	37	chr2	88890489	88890489	+	Frame_Shift_Del	DEL	A	A	-													tctgtgttctcattgggcttAaaggtgctttcaataaatcc							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:88890488_88890488TA>T	uc002stc.4	-	4	1152	c.850_850TA>A	c.(850-852)aagfs	p.K284fs		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	284					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein 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						TCATTGGGCTTAAAGGTGCTT	0.403													-	88890489	A	-	88890489	7	5	181	1	0	1	0	1	0	0	0	0	4998	359	13	0	2553	0	EIF2AK3	2	88890489	Frame_Shift_Del	DEL	A	TCGA-CG-4474-01A-02D-1158-08	49982034	88890489	154308884	11	96887											
C2orf55	343990	broad.mit.edu	37	chr2	99449454	99449454	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgcccagcgtgcccctCgactccctaggataaaagag	11	15	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:99449454C>T	uc002szf.1	-	4	540	c.246G>A	c.(244-246)TCG>TCA	p.S82S		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	82											0						GCGTGCCCCTCGACTCCCTAG	0.562													T	99449454	C	T	99449454	2	4	181	1	0	0	0	0	0	0	0	1	2176	871	31	1		1	C2orf55	2	99449454	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	10558965	99449454	143749919	12	96888											
CCDC138	165055	broad.mit.edu	37	chr2	109463198	109463198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacatatttttaacagcactCgactatgacatcaacattga	4	9	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:109463198C>T	uc002ten.1	+	12	1388	c.1328C>T	c.(1327-1329)TCG>TTG	p.S443L	CCDC138_uc002teo.1_Missense_Mutation_p.S443L|CCDC138_uc002tep.1_Missense_Mutation_p.S127L|CCDC138_uc010fjm.1_Missense_Mutation_p.S127L	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	443											0						TAACAGCACTCGACTATGACA	0.259													T	109463198	C	T	109463198	3	4	181	1	0	0	0	0	1	0	0	0	2772	893	31	1	1374	1	CCDC138	2	109463198	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	10013744	109463198	133736175	13	96889											
TTN	7273	broad.mit.edu	37	chr2	179604668	179604668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggctcttgggtgatgTttacagcctcgacctccacc	11	13	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:179604668T>G	uc010zfh.1	-	46	13003	c.12779A>C	c.(12778-12780)AAC>ACC	p.N4260T	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.N4193T|TTN_uc010zfj.1_Missense_Mutation_p.N4068T|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTGATGTTTACAGCCTC	0.473													G	179604668	T	G	179604668	3	3	181	1	0	0	0	0	1	0	0	0	16732	1725	60	5	91497	5	TTN	2	179604668	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08	70141470	179604668	63594705	14	96890											
MPP4	58538	broad.mit.edu	37	chr2	202558645	202558645	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttcatgtccttcttgtcTggtggatctgctcctttgtc	9	11	4	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:202558645T>G	uc002uyk.3	-	2	241	c.33A>C	c.(31-33)CCA>CCC	p.P11P	MPP4_uc010ftj.2_Silent_p.P11P|MPP4_uc010zhq.1_Silent_p.P11P|MPP4_uc010zhr.1_Silent_p.P11P|MPP4_uc010zhs.1_Silent_p.P11P|MPP4_uc002uyj.3_Silent_p.P11P|MPP4_uc010zht.1_Silent_p.P11P|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Silent_p.P11P|MPP4_uc002uym.1_Silent_p.P24P|MPP4_uc002uyn.2_Silent_p.P11P	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	11						cytoplasm	protein binding				0						CCTTCTTGTCTGGTGGATCTG	0.483													G	202558645	T	G	202558645	2	3	181	1	0	0	0	0	0	0	0	1	9736	1567	55	5		5	MPP4	2	202558645	Silent	SNP	T	TCGA-CG-4474-01A-02D-1158-08	22953977	202558645	40640728	15	96891											
ADAM23	8745	broad.mit.edu	37	chr2	207424813	207424813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaataccggcagcgcattaaGcagcatgctgatgctgtgca	11	10	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:207424813G>T	uc002vbq.2	+	11	1363	c.1140G>T	c.(1138-1140)AAG>AAT	p.K380N	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	380	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGCGCATTAAGCAGCATGCTG	0.468													T	207424813	G	T	207424813	3	4	181	1	0	0	0	0	1	0	0	0	245	962	34	5	1182	5	ADAM23	2	207424813	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	4866168	207424813	35774560	16	96892											
ANO7	50636	broad.mit.edu	37	chr2	242141701	242141701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagggtgtcctcagtgcCgccttccccctgcatgacgt	12	15	1	2	rs151257402		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr2:242141701C>T	uc002wax.2	+	8	970	c.867C>T	c.(865-867)GCC>GCT	p.A289A		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	289	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						TCCTCAGTGCCGCCTTCCCCC	0.647													T	242141701	C	T	242141701	2	4	181	1	0	0	0	0	0	0	0	1	702	639	23	1		1	ANO7	2	242141701	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	34716888	242141701	1057672	17	96893											
CPNE9	151835	broad.mit.edu	37	chr3	9757165	9757165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccccttaggttcttaaCcctcggaagaaatgtaagaa	7	11	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr3:9757165C>A	uc003bsd.2	+	12	948	c.777C>A	c.(775-777)AAC>AAA	p.N259K		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	259										ovary(2)	2	Medulloblastoma(99;0.227)					AGGTTCTTAACCCTCGGAAGA	0.517													A	9757165	C	A	9757165	3	1	181	1	0	0	0	0	1	0	0	0	3819	506	18	5	823	5	CPNE9	3	9757165	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08		9757165	188265265	18	96894											
SEC13	6396	broad.mit.edu	37	chr3	10354288	10354288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgtgtcccgcatgctcGtggctcttctcccaggtgcc	12	15	2	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr3:10354288G>A	uc003bvn.2	-	4	410	c.291C>T	c.(289-291)CAC>CAT	p.H97H	SEC13_uc003bvl.2_Silent_p.H29H|SEC13_uc003bvm.2_Silent_p.H83H|SEC13_uc003bvp.2_Silent_p.H100H|SEC13_uc003bvo.2_Silent_p.H143H|SEC13_uc003bvq.1_Silent_p.H83H|SEC13_uc003bvr.1_Silent_p.H83H|SEC13_uc011aul.1_Silent_p.H97H	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	97					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			ovary(1)	1						CCGCATGCTCGTGGCTCTTCT	0.592													A	10354288	G	A	10354288	2	1	181	1	0	0	0	0	0	0	0	1	13980	1136	40	1		1	SEC13	3	10354288	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08	597123	10354288	187668142	19	96895											
GALNTL2	117248	broad.mit.edu	37	chr3	16217180	16217180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctccagagggctctgccCgaggtgcggcacccactgta	12	17	1	1	rs142412711	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr3:16217180C>T	uc003car.3	+	1	997	c.522C>T	c.(520-522)CCC>CCT	p.P174P	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	174	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GGGCTCTGCCCGAGGTGCGGC	0.607													T	16217180	C	T	16217180	2	4	181	1	0	0	0	0	0	0	0	1	6222	639	23	1		1	GALNTL2	3	16217180	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	5862892	16217180	181805250	20	96896											
OXSR1	9943	broad.mit.edu	37	chr3	38278355	38278355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtaccaggttccagtgGgcgtcttcataagacagagg	14	8	2	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr3:38278355G>A	uc003chy.2	+	11	1319	c.977G>A	c.(976-978)GGG>GAG	p.G326E	OXSR1_uc010hhb.2_Missense_Mutation_p.G260E	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	326					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)		GGTTCCAGTGGGCGTCTTCAT	0.438													A	38278355	G	A	38278355	3	1	181	1	0	0	0	0	1	0	0	0	11336	1232	43	4	1019	4	OXSR1	3	38278355	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	22061175	38278355	159744075	21	96897											
NLGN1	22871	broad.mit.edu	37	chr3	173525589	173525589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttatggcaatgtgatcGtcatcacagtcaactatcga	8	9	3	1	rs142026432		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr3:173525589G>A	uc003fio.1	+	4	1036	c.613G>A	c.(613-615)GTC>ATC	p.V205I	NLGN1_uc010hww.1_Missense_Mutation_p.V245I|NLGN1_uc003fip.1_Missense_Mutation_p.V205I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	222	Extracellular (Potential).				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	p.V205L(1)		lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATGTGATCGTCATCACAGT	0.378													A	173525589	G	A	173525589	3	1	181	1	0	0	0	0	1	0	0	0	10461	1145	40	1	619	1	NLGN1	3	173525589	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	135247234	173525589	24496841	22	96898											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|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).		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(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	181	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1658	4	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	5410493	178936082	19086348	23	96899											
EVC2	132884	broad.mit.edu	37	chr4	5564606	5564606	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggccctcatggcctttTtggcattcaaaaagttcttc	7	12	3	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr4:5564606T>A	uc003gij.2	-	22	3950	c.3896A>T	c.(3895-3897)AAA>ATA	p.K1299I	EVC2_uc011bwb.1_Missense_Mutation_p.K739I|EVC2_uc003gik.2_Missense_Mutation_p.K1219I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1299						integral to membrane				large_intestine(3)|ovary(2)	5						CATGGCCTTTTTGGCATTCAA	0.488													A	5564606	T	A	5564606	3	1	181	1	0	0	0	0	1	0	0	0	5286	1841	64	5	34	5	EVC2	4	5564606	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08		5564606	185589670	24	96900											
BOD1L	259282	broad.mit.edu	37	chr4	13602962	13602962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgcctgtgctagtcacAatgccttcatcatcacaagg	8	12	4	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr4:13602962A>G	uc003gmz.1	-	10	5679	c.5562T>C	c.(5560-5562)ATT>ATC	p.I1854I	BOD1L_uc010idr.1_Silent_p.I1191I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1854							DNA binding			ovary(5)|breast(1)	6						TGCTAGTCACAATGCCTTCAT	0.468													G	13602962	A	G	13602962	2	3	181	1	0	0	0	0	0	0	0	1	1483	126	5	3		3	BOD1L	4	13602962	Silent	SNP	A	TCGA-CG-4474-01A-02D-1158-08	8038356	13602962	177551314	25	96901											
SLIT2	9353	broad.mit.edu	37	chr4	20525430	20525430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgggtagatgcttttcAggatctccacaacttgaacc	8	12	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr4:20525430A>G	uc003gpr.1	+	13	1382	c.1178A>G	c.(1177-1179)CAG>CGG	p.Q393R	SLIT2_uc003gps.1_Missense_Mutation_p.Q393R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	393	LRR 10.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						GATGCTTTTCAGGATCTCCAC	0.398													G	20525430	A	G	20525430	3	3	181	1	0	0	0	0	1	0	0	0	14740	188	7	3	1228	3	SLIT2	4	20525430	Missense_Mutation	SNP	A	TCGA-CG-4474-01A-02D-1158-08	6922468	20525430	170628846	26	96902											
ADAMTS3	9508	broad.mit.edu	37	chr4	73175207	73175207	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacttatcctcaaccttatTagaaccaatttctttatcac	1	12	3	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr4:73175207T>A	uc003hgk.1	-	15	2123	c.2086A>T	c.(2086-2088)AAT>TAT	p.N696Y	ADAMTS3_uc003hgl.2_Missense_Mutation_p.N37Y	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	696	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			TCAACCTTATTAGAACCAATT	0.448													A	73175207	T	A	73175207	3	1	181	1	0	0	0	0	1	0	0	0	267	1754	61	5	1563	5	ADAMTS3	4	73175207	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08	52649777	73175207	117979069	27	96903											
FGA	2243	broad.mit.edu	37	chr4	155507659	155507659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagctcccagggtttcGgtttccagtacttccaggtc	10	14	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr4:155507659G>A	uc003iod.1	-	5	980	c.922C>T	c.(922-924)CGA>TGA	p.R308*	FGA_uc003ioe.1_Nonsense_Mutation_p.R308*|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	308	By similarity.				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			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGGTTTCGGTTTCCAGTA	0.577													A	155507659	G	A	155507659	4	1	181	1	0	0	0	0	0	1	0	0	5830	1124	39	1	1730	1	FGA	4	155507659	Nonsense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	82332452	155507659	35646617	28	96904											
MAST4	375449	broad.mit.edu	37	chr5	66430465	66430465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatttctggttggatgcGtgccattctttggggatact	12	6	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr5:66430465G>A	uc003jut.1	+	17	1842	c.1774G>A	c.(1774-1776)GTG>ATG	p.V592M	MAST4_uc003juu.1_Missense_Mutation_p.V602M|MAST4_uc011cra.1_Missense_Mutation_p.V575M|MAST4_uc003juv.2_Missense_Mutation_p.V587M|MAST4_uc003juw.2_Missense_Mutation_p.V587M	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	784	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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)		GGTTGGATGCGTGCCATTCTT	0.463													A	66430465	G	A	66430465	3	1	181	1	0	0	0	0	1	0	0	0	9327	1145	40	1	2541	1	MAST4	5	66430465	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08		66430465	114484795	29	96905											
GPR98	84059	broad.mit.edu	37	chr5	89923174	89923174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtatttatttggttccTgaggaagaccacatactcat	8	8	1	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr5:89923174T>C	uc003kju.2	+	7	915	c.819T>C	c.(817-819)CCT>CCC	p.P273P	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	273	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		ATTTGGTTCCTGAGGAAGACC	0.383													C	89923174	T	C	89923174	2	2	181	1	0	0	0	0	0	0	0	1	6721	1567	55	3		3	GPR98	5	89923174	Silent	SNP	T	TCGA-CG-4474-01A-02D-1158-08	23492709	89923174	90992086	30	96906											
RIOK2	55781	broad.mit.edu	37	chr5	96503524	96503524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactttcattttctgacccGtaaacctctgctttttctgc	4	13	5	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr5:96503524G>A	uc003kmz.2	-	8	1154	c.1044C>T	c.(1042-1044)TAC>TAT	p.Y348Y	RIOK2_uc003kna.3_Silent_p.Y348Y	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	348	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		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)		TTTCTGACCCGTAAACCTCTG	0.393													A	96503524	G	A	96503524	2	1	181	1	0	0	0	0	0	0	0	1	13378	1140	40	1		1	RIOK2	5	96503524	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08	6580350	96503524	84411736	31	96907											
RAB24	53917	broad.mit.edu	37	chr5	176730061	176730061	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgacatcaccttggccacGaaggcggccccgatggtctg	12	15	2	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr5:176730061G>A	uc003mfv.2	-	3	504	c.135C>T	c.(133-135)TTC>TTT	p.F45F	RAB24_uc003mfu.2_Silent_p.F16F|RAB24_uc003mfw.2_Silent_p.F45F|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	RAB24 gene product	45	Effector region (By similarity).				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding				0	all_cancers(89;2.49e-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)			CCTTGGCCACGAAGGCGGCCC	0.627													A	176730061	G	A	176730061	2	1	181	1	0	0	0	0	0	0	0	1	12911	1049	37	1		1	RAB24	5	176730061	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08	80226537	176730061	4185199	32	96908											
FLT4	2324	broad.mit.edu	37	chr5	180038423	180038423	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggtggacacctgcgagaaGctgccctcttctgagctctg	12	12	3	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr5:180038423G>C	uc003mma.3	-	27	3673	c.3594C>G	c.(3592-3594)AGC>AGG	p.S1198R	FLT4_uc003mlz.3_Missense_Mutation_p.S1198R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1198	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	CCTGCGAGAAGCTGCCCTCTT	0.667									Congenital_Hereditary_Lymphedema				C	180038423	G	C	180038423	3	2	181	1	0	0	0	0	1	0	0	0	5944	962	34	5	521	5	FLT4	5	180038423	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	3308362	180038423	876837	33	96909											
HIVEP1	3096	broad.mit.edu	37	chr6	12123037	12123037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcacagccctgtgccCggcggtctgcagcctcagat	12	16	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr6:12123037C>T	uc003nac.2	+	4	3188	c.3009C>T	c.(3007-3009)CCC>CCT	p.P1003P	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1003					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCCTGTGCCCGGCGGTCTGC	0.463													T	12123037	C	T	12123037	2	4	181	1	0	0	0	0	0	0	0	1	7186	639	23	1		1	HIVEP1	6	12123037	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08		12123037	158992030	34	96910											
BAT2	7916	broad.mit.edu	37	chr6	31600597	31600597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaaggatttgagtaaaCggagcttctcaagtcagcgg	13	8	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr6:31600597C>T	uc003nvb.3	+	16	4396	c.4147C>T	c.(4147-4149)CGG>TGG	p.R1383W	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1383W	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1383	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						TTTGAGTAAACGGAGCTTCTC	0.637													T	31600597	C	T	31600597	3	4	181	1	0	0	0	0	1	0	0	0	1319	527	19	1	4205	1	BAT2	6	31600597	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	19477560	31600597	139514470	35	96911											
RWDD2A	112611	broad.mit.edu	37	chr6	83905791	83905791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaagcatgctgaaagcGtggagacagaaggaaatggt	14	6	0	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr6:83905791G>A	uc003pjx.3	+	3	950	c.679G>A	c.(679-681)GTG>ATG	p.V227M	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.V152M	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	227											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		TGCTGAAAGCGTGGAGACAGA	0.448													A	83905791	G	A	83905791	3	1	181	1	0	0	0	0	1	0	0	0	13755	1145	40	1	685	1	RWDD2A	6	83905791	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	52305194	83905791	87209276	36	96912											
TBX18	9096	broad.mit.edu	37	chr6	85446536	85446536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaacatctgccgatccGtcatggtcccactcggtgag	13	13	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr6:85446536G>A	uc003pkl.1	-	8	1691	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		CTGCCGATCCGTCATGGTCCC	0.527													A	85446536	G	A	85446536	3	1	181	1	0	0	0	0	1	0	0	0	15650	1145	40	1	136	1	TBX18	6	85446536	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	1540745	85446536	85668531	37	96913											
CENPW	387103	broad.mit.edu	37	chr6	126661513	126661513	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttcaagcgaaagaagcctCaacttcgtctggagaaaagt	9	9	4	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr6:126661513C>T	uc003qao.2	+	1	261	c.94C>T	c.(94-96)CAA>TAA	p.Q32*	CENPW_uc003qap.3_RNA	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	hypothetical protein LOC387103	32						chromosome, centromeric region|nucleus	DNA binding				0						AAAGAAGCCTCAACTTCGTCT	0.527													T	126661513	C	T	126661513	4	4	181	1	0	0	0	0	0	1	0	0	3244	827	29	4	96	4	CENPW	6	126661513	Nonsense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	41214977	126661513	44453554	38	96914											
ACTB	60	broad.mit.edu	37	chr7	5568970	5568970	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttcagggtgaggatgcctCtcttgctctgggcctcgtcg	13	12	3	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr7:5568970C>G	uc003sos.3	-	2	221	c.185G>C	c.(184-186)AGA>ACA	p.R62T	ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.R62T|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	62					'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				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAGGATGCCTCTCTTGCTCTG	0.582													G	5568970	C	G	5568970	3	3	181	1	0	0	0	0	1	0	0	0	193	913	32	5	958	5	ACTB	7	5568970	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08		5568970	153569693	39	96915											
SP4	6671	broad.mit.edu	37	chr7	21550866	21550866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaactcccaatgtttcAaccaacatggaagaattctg	6	12	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr7:21550866A>G	uc003sva.2	+	6	2515	c.2334A>G	c.(2332-2334)TCA>TCG	p.S778S	SP4_uc003svb.2_Silent_p.S465S	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	778					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						CCAATGTTTCAACCAACATGG	0.428													G	21550866	A	G	21550866	2	3	181	1	0	0	0	0	0	0	0	1	14966	117	5	3		3	SP4	7	21550866	Silent	SNP	A	TCGA-CG-4474-01A-02D-1158-08	15981896	21550866	137587797	40	96916											
HGF	3082	broad.mit.edu	37	chr7	81381520	81381520	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcccccttcttcccctcGaggatttcgacagtagtttt	9	13	1	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr7:81381520G>A	uc003uhl.2	-	5	706	c.541C>T	c.(541-543)CGA>TGA	p.R181*	HGF_uc003uhm.2_Nonsense_Mutation_p.R176*|HGF_uc003uhn.1_Nonsense_Mutation_p.R181*|HGF_uc003uho.1_Nonsense_Mutation_p.R176*|HGF_uc003uhp.2_Nonsense_Mutation_p.R181*	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	181	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						TCTTCCCCTCGAGGATTTCGA	0.428													A	81381520	G	A	81381520	4	1	181	1	0	0	0	0	0	1	0	0	7085	1066	37	1	1721	1	HGF	7	81381520	Nonsense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	59830654	81381520	77757143	41	96917											
KIAA1324L	222223	broad.mit.edu	37	chr7	86526893	86526893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagagggcaagcttcagCactctcccacaggaaataga	9	12	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr7:86526893C>T	uc011kha.1	-	19	2799	c.2614G>A	c.(2614-2616)GCT>ACT	p.A872T	KIAA1324L_uc003uif.1_Missense_Mutation_p.A632T|KIAA1324L_uc011kgz.1_Missense_Mutation_p.A758T|KIAA1324L_uc003uie.2_Missense_Mutation_p.A705T	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	872	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					CAAGCTTCAGCACTCTCCCAC	0.463													T	86526893	C	T	86526893	3	4	181	1	0	0	0	0	1	0	0	0	8224	710	25	2	491	2	KIAA1324L	7	86526893	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	5145373	86526893	72611770	42	96918											
C7orf63	79846	broad.mit.edu	37	chr7	89939392	89939392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctttttaggtgccctctgGtggagtagtaacagtggaaa	13	7	1	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr7:89939392G>T	uc010lep.2	+	23	2917	c.2666G>T	c.(2665-2667)GGT>GTT	p.G889V	C7orf63_uc011khj.1_Missense_Mutation_p.G871V|C7orf63_uc011khk.1_Missense_Mutation_p.G405V	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	889							binding			ovary(1)	1						GTGCCCTCTGGTGGAGTAGTA	0.413													T	89939392	G	T	89939392	3	4	181	1	0	0	0	0	1	0	0	0	2409	1261	44	5	2756	5	C7orf63	7	89939392	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	3412499	89939392	69199271	43	96919											
OR9A4	130075	broad.mit.edu	37	chr7	141618798	141618798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgacattaatgggaaaCacagtcatcatcatgattgt	9	6	3	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr7:141618798C>A	uc003vwu.1	+	1	123	c.123C>A	c.(121-123)AAC>AAA	p.N41K		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)					TAATGGGAAACACAGTCATCA	0.443													A	141618798	C	A	141618798	3	1	181	1	0	0	0	0	1	0	0	0	11249	477	17	5	125	5	OR9A4	7	141618798	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	51679406	141618798	17519865	44	96920											
TRPV6	55503	broad.mit.edu	37	chr7	142573294	142573294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcctgggcttgagggggCggtagatgcagcacatggtg	19	7	0	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr7:142573294C>T	uc003wbx.1	-	8	1265	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	TRPV6_uc003wbw.1_Missense_Mutation_p.R136H|TRPV6_uc010lou.1_Missense_Mutation_p.R221H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	350	Extracellular (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CTTGAGGGGGCGGTAGATGCA	0.572													T	142573294	C	T	142573294	3	4	181	1	0	0	0	0	1	0	0	0	16597	768	27	1	1160	1	TRPV6	7	142573294	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	954496	142573294	16565369	45	96921											
MCPH1	79648	broad.mit.edu	37	chr8	6500543	6500543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagcacaaggtctgtgcCcctgaaaactacctattgtc	7	14	1	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:6500543C>T	uc003wqi.2	+	14	2549	c.2481C>T	c.(2479-2481)GCC>GCT	p.A827A	uc003wqm.2_Intron	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	827	BRCT 3.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGGTCTGTGCCCCTGAAAACT	0.448													T	6500543	C	T	6500543	2	4	181	1	0	0	0	0	0	0	0	1	9398	610	22	4		4	MCPH1	8	6500543	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08		6500543	139863479	46	96922											
SOX7	83595	broad.mit.edu	37	chr8	10583557	10583557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgggtggtaggtggcCggggagtaataggcaggaga	22	3	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:10583557C>T	uc003wtf.2	-	2	937	c.858G>A	c.(856-858)CCG>CCA	p.P286P	SOX7_uc011kwz.1_Silent_p.P338P	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	286	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)	1				COAD - Colon adenocarcinoma(149;0.0732)		GGTAGGTGGCCGGGGAGTAAT	0.672													T	10583557	C	T	10583557	2	4	181	1	0	0	0	0	0	0	0	1	14956	639	23	1		1	SOX7	8	10583557	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	4083014	10583557	135780465	47	96923											
DLC1	10395	broad.mit.edu	37	chr8	13259102	13259102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccatggagtccagccgCgccctatctcgatcttctct	8	16	3	0	rs147228489	by1000genomes	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:13259102C>T	uc003wwm.2	-	3	1494	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	DLC1_uc003wwn.2_Silent_p.A350A|DLC1_uc011kxy.1_Silent_p.A350A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	350					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGTCCAGCCGCGCCCTATCTC	0.448													T	13259102	C	T	13259102	2	4	181	1	0	0	0	0	0	0	0	1	4550	755	27	1		1	DLC1	8	13259102	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	2675545	13259102	133104920	48	96924											
TACC1	6867	broad.mit.edu	37	chr8	38693782	38693782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaatcagacaagacagccGtgctcaccttaataagagaa	9	10	2	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:38693782G>A	uc010lwp.2	+	7	2195	c.1816G>A	c.(1816-1818)GTG>ATG	p.V606M	TACC1_uc011lby.1_Missense_Mutation_p.V411M|TACC1_uc003xma.2_Missense_Mutation_p.V44M|TACC1_uc003xlz.2_Missense_Mutation_p.V411M|TACC1_uc003xmc.3_Missense_Mutation_p.V410M|TACC1_uc011lbz.1_Missense_Mutation_p.V593M|TACC1_uc003xmb.3_Missense_Mutation_p.V532M|TACC1_uc010lwo.1_Missense_Mutation_p.V139M|TACC1_uc003xmf.3_Missense_Mutation_p.V196M|TACC1_uc011lca.1_Missense_Mutation_p.V589M|TACC1_uc011lcb.1_Missense_Mutation_p.V382M|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.V423M|TACC1_uc010lwq.2_Missense_Mutation_p.V423M	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	606					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		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)			CAAGACAGCCGTGCTCACCTT	0.522													A	38693782	G	A	38693782	3	1	181	1	0	0	0	0	1	0	0	0	15498	1145	40	1	1842	1	TACC1	8	38693782	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	25434680	38693782	107670240	49	96925											
CHRNB3	1142	broad.mit.edu	37	chr8	42586889	42586889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtctggacccctcccGccagctacaaaagctcctgc	8	17	1	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:42586889G>A	uc003xpi.1	+	5	567	c.439G>A	c.(439-441)GCC>ACC	p.A147T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	147	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	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)			GACCCCTCCCGCCAGCTACAA	0.527													A	42586889	G	A	42586889	3	1	181	1	0	0	0	0	1	0	0	0	3392	1087	38	1	457	1	CHRNB3	8	42586889	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	3893107	42586889	103777133	50	96926											
MCM4	4173	broad.mit.edu	37	chr8	48874864	48874864	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatgtttttctgtgtaGgcagcagcagaagatatagt	11	6	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:48874864G>T	uc003xqk.1	+	5	495	c.400_splice	c.e5-1	p.A134_splice	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Splice_Site_p.A134_splice|MCM4_uc011ldi.1_Splice_Site_p.A121_splice|MCM4_uc010lxw.1_Splice_Site	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4						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			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TTTCTGTGTAGGCAGCAGCAG	0.453													T	48874864	G	T	48874864	5	4	181	1	0	0	0	0	0	0	1	0	9389	1014	35	5	413	5	MCM4	8	48874864	Splice_Site	SNP	G	TCGA-CG-4474-01A-02D-1158-08	6287975	48874864	97489158	51	96927											
CLVS1	157807	broad.mit.edu	37	chr8	62370926	62370926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatacaccctgaatttttgCcctctgaatttggaggaact	7	9	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:62370926C>T	uc003xuh.2	+	5	1126	c.802C>T	c.(802-804)CCC>TCC	p.P268S	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	268	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						TGAATTTTTGCCCTCTGAATT	0.413													T	62370926	C	T	62370926	3	4	181	1	0	0	0	0	1	0	0	0	3571	739	26	2	816	2	CLVS1	8	62370926	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	13496062	62370926	83993096	52	96928											
HAS2	3037	broad.mit.edu	37	chr8	122626580	122626580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatactggaatgagtccTatgaaattaacaacaatggt	8	6	0	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr8:122626580T>C	uc003yph.2	-	4	1966	c.1428A>G	c.(1426-1428)ATA>ATG	p.I476M		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	476	Helical; Name=6; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	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)			GAATGAGTCCTATGAAATTAA	0.403													C	122626580	T	C	122626580	3	2	181	1	0	0	0	0	1	0	0	0	6962	1512	53	3	234	3	HAS2	8	122626580	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08	60255654	122626580	23737442	53	96929											
NUP214	8021	broad.mit.edu	37	chr9	134049567	134049567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacgtcctgtaaagatgacGaggcagtggttcaggcccct	14	10	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr9:134049567G>A	uc004cag.2	+	22	3130	c.3019G>A	c.(3019-3021)GAG>AAG	p.E1007K	NUP214_uc004cah.2_Missense_Mutation_p.E997K|NUP214_uc004cai.2_Missense_Mutation_p.E437K|NUP214_uc004caf.1_Missense_Mutation_p.E996K|NUP214_uc010mzf.2_Missense_Mutation_p.E305K	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1007	11 X 5 AA approximate repeats.				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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAAAGATGACGAGGCAGTGGT	0.542			T	DEK|SET|ABL1	AML|T-ALL								A	134049567	G	A	134049567	3	1	181	1	0	0	0	0	1	0	0	0	10762	1059	37	1	3105	1	NUP214	9	134049567	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08		134049567	7163864	54	96930											
AKR1C4	1109	broad.mit.edu	37	chr10	5238879	5238879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgatggtcacttcatgCccgtattgggatttggcacc	10	9	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr10:5238879C>T	uc001ihw.2	+	1	82	c.49C>T	c.(49-51)CCC>TCC	p.P17S		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	17	NADP (By similarity).				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			ovary(1)	1					NADH(DB00157)	TCACTTCATGCCCGTATTGGG	0.428													T	5238879	C	T	5238879	3	4	181	1	0	0	0	0	1	0	0	0	472	739	26	2	51	2	AKR1C4	10	5238879	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08		5238879	130295868	55	96931											
UPF2	26019	broad.mit.edu	37	chr10	11971960	11971960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtttgctggagctgggCgctgtgcaagagactgcaac	16	8	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr10:11971960C>T	uc001ila.2	-	20	4187	c.3713G>A	c.(3712-3714)CGC>CAC	p.R1238H	UPF2_uc001ilb.2_Missense_Mutation_p.R1238H|UPF2_uc001ilc.2_Missense_Mutation_p.R1238H	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1238	Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.				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			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TGGAGCTGGGCGCTGTGCAAG	0.458													T	11971960	C	T	11971960	3	4	181	1	0	0	0	0	1	0	0	0	17001	768	27	1	113	1	UPF2	10	11971960	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	6733081	11971960	123562787	56	96932											
TIAL1	7073	broad.mit.edu	37	chr10	121339500	121339500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggattttccagttgccaTgtctttaactacccgggcat	8	10	1	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr10:121339500T>C	uc001lei.1	-	6	958	c.394A>G	c.(394-396)ATG>GTG	p.M132V	TIAL1_uc001leh.1_Missense_Mutation_p.M110V|TIAL1_uc001lej.1_Missense_Mutation_p.M149V|TIAL1_uc001lek.1_Missense_Mutation_p.M9V|TIAL1_uc009xzi.1_Missense_Mutation_p.M1V|TIAL1_uc010qtb.1_Missense_Mutation_p.M9V	NM_003252	NP_003243	Q01085	TIAR_HUMAN	TIA-1 related protein isoform 1	132	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CCAGTTGCCATGTCTTTAACT	0.363													C	121339500	T	C	121339500	3	2	181	1	0	0	0	0	1	0	0	0	15886	1464	51	3	761	3	TIAL1	10	121339500	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08	109367540	121339500	14195247	57	96933											
BAG3	9531	broad.mit.edu	37	chr10	121431796	121431797	+	In_Frame_Ins	INS	-	-	CTCATC													ctccagctgcctctgactgcINStcatcctcatcctcctcggc							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr10:121431795_121431796G>GCTCATC	uc001lem.3	+	2	842_843	c.536_537G>GCTCATC	c.(535-537)tgc>tGCTCATC	p.185_186insS	BAG3_uc001lel.3_In_Frame_Ins_p.185_186insS	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	185	Poly-Ser.				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)		GCCTCTGACTGCTCATCCTCAT	0.629													CTCATC	121431797	-	CTCATC	121431796	7	5	181	1	0	1	1	0	0	0	0	0	1288	805	28	0	547	0	BAG3	10	121431796	In_Frame_Ins	INS	-	TCGA-CG-4474-01A-02D-1158-08	92296	121431796	14102951	58	96934											
FGFR2	2263	broad.mit.edu	37	chr10	123274809	123274809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtagtctggggaagctGtaatctccttttctcttcca	9	11	3	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr10:123274809G>T	uc010qtk.1	-	9	1756	c.1109C>A	c.(1108-1110)ACA>AAA	p.T370K	FGFR2_uc010qtg.1_Missense_Mutation_p.T258K|FGFR2_uc010qth.1_Missense_Mutation_p.T255K|FGFR2_uc010qti.1_Missense_Mutation_p.T281K|FGFR2_uc010qtj.1_Missense_Mutation_p.T371K|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.T255K|FGFR2_uc001lfl.3_Missense_Mutation_p.T371K|FGFR2_uc001lfm.2_Missense_Mutation_p.T282K|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	370	Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.T370R(1)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGGGGAAGCTGTAATCTCCTT	0.488		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				T	123274809	G	T	123274809	3	4	181	1	0	0	0	0	1	0	0	0	5866	1377	48	5	1500	5	FGFR2	10	123274809	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	1843013	123274809	12259938	59	96935											
UBQLNL	143630	broad.mit.edu	37	chr11	5537612	5537612	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatatttttgtctgccagCagacctgatggacatccact	9	10	1	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr11:5537612C>A	uc001maz.3	-	1	345	c.60G>T	c.(58-60)CTG>CTT	p.L20L	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	20										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGTCTGCCAGCAGACCTGATG	0.517													A	5537612	C	A	5537612	2	1	181	1	0	0	0	0	0	0	0	1	16897	697	25	5		5	UBQLNL	11	5537612	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08		5537612	129468904	60	96936											
EIF3M	10480	broad.mit.edu	37	chr11	32610588	32610588	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttttccacgggatggataaGaatactcctgtaagatacac	8	9	0	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr11:32610588G>C	uc001mtu.2	+	4	388	c.345G>C	c.(343-345)AAG>AAC	p.K115N	EIF3M_uc010ref.1_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3,	115						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)|breast(1)|skin(1)	3	Breast(20;0.109)					GGATGGATAAGAATACTCCTG	0.393													C	32610588	G	C	32610588	3	2	181	1	0	0	0	0	1	0	0	0	5023	933	33	5	359	5	EIF3M	11	32610588	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	27072976	32610588	102395928	61	96937											
C2CD3	26005	broad.mit.edu	37	chr11	73814404	73814404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaattatgggaggctggCgtagctacgaaggttgaagg	15	5	0	1	rs147082398		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr11:73814404C>T	uc001ouu.2	-	14	2579	c.2352G>A	c.(2350-2352)ACG>ACA	p.T784T		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458													T	73814404	C	T	73814404	2	4	181	1	0	0	0	0	0	0	0	1	2154	755	27	1		1	C2CD3	11	73814404	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	41203816	73814404	61192112	62	96938											
JRKL	8690	broad.mit.edu	37	chr11	96124155	96124155	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttttatgctttgggAatggatggtgattttaaccc	9	6	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr11:96124155A>G	uc009ywu.2	+	2	594	c.342A>G	c.(340-342)GGA>GGG	p.G114G	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.G114G	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	114	HTH CENPB-type.|H-T-H motif (By similarity).				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		ATGCTTTGGGAATGGATGGTG	0.428													G	96124155	A	G	96124155	2	3	181	1	0	0	0	0	0	0	0	1	7965	233	9	3		3	JRKL	11	96124155	Silent	SNP	A	TCGA-CG-4474-01A-02D-1158-08	22309751	96124155	38882361	63	96939											
CHD4	1108	broad.mit.edu	37	chr12	6680117	6680118	+	Frame_Shift_Del	DEL	GG	GG	-													tctgtaacctcacagcaactGggggaattcgggcaatggta							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:6680116_6680117TGG>T	uc001qpo.3	-	38	5803_5804	c.5639_5640CCA>A	c.(5638-5640)ccafs	p.P1880fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.P1873fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.P1905fs|NOP2_uc021qtw.1_5'Flank|NOP2_uc021qtx.1_5'Flank|NOP2_uc021qty.1_5'Flank|NOP2_uc021qtz.1_5'Flank|NOP2_uc021qua.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1880	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCACAGCAACTGGGGGAATTCG	0.515													-	6680118	GG	-	6680117	7	5	181	1	0	1	0	1	0	0	0	0	3327	1348	47	0	107	0	CHD4	12	6680117	Frame_Shift_Del	DEL	GG	TCGA-CG-4474-01A-02D-1158-08		6680117	127171778	64	96940											
KIF21A	55605	broad.mit.edu	37	chr12	39726737	39726737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtaaggcctggactctcGccacaggaattctcattttc	9	11	2	0	rs145318959		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:39726737G>A	uc001rly.2	-	19	2806	c.2660C>T	c.(2659-2661)GCG>GTG	p.A887V	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.A204V|KIF21A_uc001rlx.2_Missense_Mutation_p.A874V|KIF21A_uc001rlz.2_Missense_Mutation_p.A851V|KIF21A_uc010skl.1_Missense_Mutation_p.A874V	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	887					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGGACTCTCGCCACAGGAAT	0.488													A	39726737	G	A	39726737	3	1	181	1	0	0	0	0	1	0	0	0	8288	1087	38	1	2444	1	KIF21A	12	39726737	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	33046620	39726737	94125158	65	96941											
ARID2	196528	broad.mit.edu	37	chr12	46245192	46245192	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcaagagctcctagccctCaggtggtctatcaggtggcc	12	12	3	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:46245192C>T	uc001ros.1	+	15	3286	c.3286C>T	c.(3286-3288)CAG>TAG	p.Q1096*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q1096*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q552*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q723*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q430*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1096	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		TCCTAGCCCTCAGGTGGTCTA	0.527													T	46245192	C	T	46245192	4	4	181	1	0	0	0	0	0	1	0	0	915	827	29	4	3344	4	ARID2	12	46245192	Nonsense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	6518455	46245192	87606703	66	96942											
ARID2	196528	broad.mit.edu	37	chr12	46246525	46246528	+	Frame_Shift_Del	DEL	CAAT	CAAT	-													agtaggagttagaattgttaCaatcagtgaccccaacaatg							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:46246524_46246527ACAAT>A	uc001ros.1	+	14	4618_4621	c.4618_4621ACAAT>A	c.(4618-4623)acaatcfs	p.T1540fs	ARID2_uc001ror.3_Frame_Shift_Del_p.T1540fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.T996fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.T1167fs|ARID2_uc001rou.1_Frame_Shift_Del_p.T874fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1540					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)		TAGAATTGTTACAATCAGTGACCC	0.456			"N, S, F"		hepatocellular carcinoma								-	46246528	CAAT	-	46246525	7	5	181	1	0	1	0	1	0	0	0	0	915	478	17	0	4677	0	ARID2	12	46246525	Frame_Shift_Del	DEL	CAAT	TCGA-CG-4474-01A-02D-1158-08	1333	46246525	87605370	67	96943											
ITGB7	3695	broad.mit.edu	37	chr12	53586645	53586645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattcgcatgctctgccCgtgcggttggcatgacagtg	13	12	1	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:53586645C>T	uc009zmv.2	-	12	1847	c.1776G>A	c.(1774-1776)ACG>ACA	p.T592T	ITGB7_uc001scc.2_Silent_p.T592T|ITGB7_uc010snz.1_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	592	Cysteine-rich tandem repeats.|Extracellular (Potential).|III.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						ATGCTCTGCCCGTGCGGTTGG	0.582													T	53586645	C	T	53586645	2	4	181	1	0	0	0	0	0	0	0	1	7900	639	23	1		1	ITGB7	12	53586645	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	7340120	53586645	80265250	68	96944											
MYF5	4617	broad.mit.edu	37	chr12	81111227	81111227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcctcaggaatgccatcCgctacatcgagagcctgcag	10	13	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:81111227C>T	uc001szg.2	+	1	520	c.385C>T	c.(385-387)CGC>TGC	p.R129C		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GAATGCCATCCGCTACATCGA	0.587													T	81111227	C	T	81111227	3	4	181	1	0	0	0	0	1	0	0	0	10027	652	23	1	387	1	MYF5	12	81111227	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	27524582	81111227	52740668	69	96945											
TMEM119	338773	broad.mit.edu	37	chr12	108985349	108985349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcaagcacaggggctttCggggggacccactggtccct	15	13	0	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:108985349C>T	uc001tng.2	-	2	974	c.811G>A	c.(811-813)GAA>AAA	p.E271K	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	271	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						CAGGGGCTTTCGGGGGGACCC	0.667													T	108985349	C	T	108985349	3	4	181	1	0	0	0	0	1	0	0	0	16029	893	31	1	44	1	TMEM119	12	108985349	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	27874122	108985349	24866546	70	96946											
GOLGA3	2802	broad.mit.edu	37	chr12	133398686	133398686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatctgtcctcctggaggCcatcttgctcggccgacgcg	14	14	2	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr12:133398686C>T	uc001ukz.1	-	2	588	c.29G>A	c.(28-30)GGC>GAC	p.G10D	GOLGA3_uc001ula.1_Missense_Mutation_p.G10D|GOLGA3_uc001ulb.2_Missense_Mutation_p.G10D	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	10					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		CTCCTGGAGGCCATCTTGCTC	0.647													T	133398686	C	T	133398686	3	4	181	1	0	0	0	0	1	0	0	0	6554	739	26	2	4697	2	GOLGA3	12	133398686	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	24413337	133398686	453209	71	96947											
THSD1	55901	broad.mit.edu	37	chr13	52971746	52971747	+	Frame_Shift_Del	DEL	AT	AT	-													agcttcagcaccacggtgacAtaggcttctggccccaaggg							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr13:52971745_52971746CAT>C	uc001vgo.3	-	2	1187_1188	c.642_643ATG>G	c.(640-645)tatgtcfs	p.Y214fs	THSD1_uc001vgp.3_Frame_Shift_Del_p.Y214fs|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	214						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)		ACCACGGTGACATAGGCTTCTG	0.525													-	52971747	AT	-	52971746	7	5	181	1	0	1	0	1	0	0	0	0	15874	224	8	0	1928	0	THSD1	13	52971746	Frame_Shift_Del	DEL	AT	TCGA-CG-4474-01A-02D-1158-08		52971746	62198132	72	96948											
UGGT2	55757	broad.mit.edu	37	chr13	96592282	96592282	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgaggaaatgtattttGgagaacactcttcacattgt	9	6	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr13:96592282G>A	uc001vmt.2	-	16	1911	c.1741C>T	c.(1741-1743)CAA>TAA	p.Q581*		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	581					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AATGTATTTTGGAGAACACTC	0.259													A	96592282	G	A	96592282	4	1	181	1	0	0	0	0	0	1	0	0	16939	1357	47	4	2905	4	UGGT2	13	96592282	Nonsense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	43620536	96592282	18577596	73	96949											
NPAS3	64067	broad.mit.edu	37	chr14	34270057	34270057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaacctgctgcccaacgcGcacgctgttaacttcgtgga	10	14	0	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr14:34270057G>A	uc001wru.2	+	12	2608	c.2544G>A	c.(2542-2544)GCG>GCA	p.A848A	NPAS3_uc001wrs.2_Silent_p.A835A|NPAS3_uc001wrt.2_Silent_p.A816A|NPAS3_uc001wrv.2_Silent_p.A818A	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		TGCCCAACGCGCACGCTGTTA	0.652													A	34270057	G	A	34270057	2	1	181	1	0	0	0	0	0	0	0	1	10564	1074	38	1		1	NPAS3	14	34270057	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08		34270057	73079483	74	96950											
PAX9	5083	broad.mit.edu	37	chr14	37132608	37132608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctatcacggcggcggccGccaaggtgcccacgccaccc	12	20	1	0	rs143020311	byFrequency	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr14:37132608G>A	uc001wty.3	+	3	1228	c.511G>A	c.(511-513)GCC>ACC	p.A171T	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	171	Interaction with KDM5B.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		GGCGGCGGCCGCCAAGGTGCC	0.682													A	37132608	G	A	37132608	3	1	181	1	0	0	0	0	1	0	0	0	11486	1087	38	1	517	1	PAX9	14	37132608	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	2862551	37132608	70216932	75	96951											
SERPINA1	5265	broad.mit.edu	37	chr14	94844974	94844974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcacagccttatgcaCggcctggaggggagagaagc	16	10	1	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr14:94844974C>T	uc001ycx.3	-	5	1330	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.V357M|SERPINA1_uc010aux.2_Missense_Mutation_p.V357M|SERPINA1_uc001ycy.3_Missense_Mutation_p.V357M|SERPINA1_uc010auy.2_Missense_Mutation_p.V357M|SERPINA1_uc001ycz.3_Missense_Mutation_p.V357M|SERPINA1_uc010auz.2_Missense_Mutation_p.V357M|SERPINA1_uc010ava.2_Missense_Mutation_p.V357M|SERPINA1_uc001ydb.3_Missense_Mutation_p.V357M|SERPINA1_uc010avb.2_Missense_Mutation_p.V357M|SERPINA1_uc001ydc.3_Missense_Mutation_p.V357M	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	357					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			skin(1)	1		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)	GCCTTATGCACGGCCTGGAGG	0.592									Alpha-1-Antitrypsin_Deficiency				T	94844974	C	T	94844974	3	4	181	1	0	0	0	0	1	0	0	0	14086	536	19	1	191	1	SERPINA1	14	94844974	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	57712366	94844974	12504566	76	96952											
ODF3L1	161753	broad.mit.edu	37	chr15	76019658	76019658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcaggaggccctggacCtaccacgtacgcccgacctg	13	15	0	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr15:76019658C>A	uc002bax.1	+	4	824	c.602C>A	c.(601-603)CCT>CAT	p.P201H		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	201	DUF1309 1.										0						GGCCCTGGACCTACCACGTAC	0.622													A	76019658	C	A	76019658	3	1	181	1	0	0	0	0	1	0	0	0	10831	681	24	5	616	5	ODF3L1	15	76019658	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08		76019658	26511734	77	96953											
HAPLN3	145864	broad.mit.edu	37	chr15	89424648	89424648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcaatgacctcacagcGgtaacgcccatagtcctcca	7	17	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr15:89424648G>T	uc002bnc.2	-	3	561	c.433C>A	c.(433-435)CGC>AGC	p.R145S	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R207S	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	145	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACCTCACAGCGGTAACGCCCA	0.617													T	89424648	G	T	89424648	3	4	181	1	0	0	0	0	1	0	0	0	6956	1116	39	5	661	5	HAPLN3	15	89424648	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	13404990	89424648	13106744	78	96954											
A2BP1	54715	broad.mit.edu	37	chr16	7759122	7759122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccccacctacggcGttggtgccatggtgagtaca	11	15	0	1	rs138704494		TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr16:7759122G>A	uc002cys.2	+	15	2048	c.1060G>A	c.(1060-1062)GTT>ATT	p.V354I	A2BP1_uc002cyt.2_Missense_Mutation_p.V327I|A2BP1_uc010uxz.1_Missense_Mutation_p.V397I|A2BP1_uc010uya.1_Silent_p.A328A|A2BP1_uc010uyb.1_Missense_Mutation_p.V354I|A2BP1_uc002cyw.2_Silent_p.A392A|A2BP1_uc002cyy.2_Missense_Mutation_p.V375I|A2BP1_uc002cyx.2_Missense_Mutation_p.V375I|A2BP1_uc010uyc.1_Missense_Mutation_p.V348I	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	354					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CACCTACGGCGTTGGTGCCAT	0.547													A	7759122	G	A	7759122	3	1	181	1	0	0	0	0	1	0	0	0	3	1145	40	1	1301	1	A2BP1	16	7759122	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08		7759122	82595631	79	96955											
SCNN1B	6338	broad.mit.edu	37	chr16	23382763	23382763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccatgtcggggacagagAcgtccatcggggtactcgtg	15	11	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr16:23382763A>G	uc002dln.2	+	6	1200	c.1024A>G	c.(1024-1026)ACG>GCG	p.T342A		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	342	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGGGACAGAGACGTCCATCGG	0.632													G	23382763	A	G	23382763	3	3	181	1	0	0	0	0	1	0	0	0	13928	275	10	3	1042	3	SCNN1B	16	23382763	Missense_Mutation	SNP	A	TCGA-CG-4474-01A-02D-1158-08	15623641	23382763	66971990	80	96956											
CDH1	999	broad.mit.edu	37	chr16	68842627	68842627	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaagacaaagaaggcaaggTtttctacagcatcactggcc	9	10	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr16:68842627T>A	uc002ewg.1	+	5	687	c.563T>A	c.(562-564)GTT>GAT	p.V188D	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.V188D	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	188	Cadherin 1.|Extracellular (Potential).				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			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		GAAGGCAAGGTTTTCTACAGC	0.423			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68842627	T	A	68842627	3	1	181	1	0	0	0	0	1	0	0	0	3095	1725	60	5	581	5	CDH1	16	68842627	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08	45459864	68842627	21512126	81	96957											
TNS4	84951	broad.mit.edu	37	chr17	38652436	38652436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccttctcaccaggggacGgcaggaagcaggtggctttg	16	10	1	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr17:38652436G>A	uc010cxb.2	-	2	406	c.242C>T	c.(241-243)CCG>CTG	p.P81L		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	81					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCAGGGGACGGCAGGAAGCA	0.647													A	38652436	G	A	38652436	3	1	181	1	0	0	0	0	1	0	0	0	16342	1116	39	1	1953	1	TNS4	17	38652436	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08		38652436	42542774	82	96958											
ATP6V0A1	535	broad.mit.edu	37	chr17	40639324	40639324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcagaaatgcttgattgCagaggtctggtgccctgtca	12	9	3	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr17:40639324C>T	uc002hzr.2	+	10	1129	c.962C>T	c.(961-963)GCA>GTA	p.A321V	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.A321V|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.A328V|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.A278V|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.A278V|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.A180V	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	321	Cytoplasmic (Potential).				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			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGCTTGATTGCAGAGGTCTGG	0.522													T	40639324	C	T	40639324	3	4	181	1	0	0	0	0	1	0	0	0	1168	710	25	2	1017	2	ATP6V0A1	17	40639324	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	1986888	40639324	40555886	83	96959											
HOXB2	3212	broad.mit.edu	37	chr17	46621062	46621062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttggtgtaagccgtgcGcagcctgcgcgccccgccgc	15	16	0	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr17:46621062G>A	uc002inm.2	-	2	559	c.439C>T	c.(439-441)CGC>TGC	p.R147C		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	147	Homeobox.				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TAAGCCGTGCGCAGCCTGCGC	0.642													A	46621062	G	A	46621062	3	1	181	1	0	0	0	0	1	0	0	0	7301	1087	38	1	635	1	HOXB2	17	46621062	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	5981738	46621062	34574148	84	96960											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	181	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-4474-01A-02D-1158-08	9814099	56435161	24760049	85	96961											
KCNH6	81033	broad.mit.edu	37	chr17	61621612	61621612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctttccctcctgcagatGcagcccctcccctgagcatc	6	20	0	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr17:61621612G>A	uc002jay.2	+	12	2424	c.2344G>A	c.(2344-2346)GCA>ACA	p.A782T	KCNH6_uc010wpl.1_Missense_Mutation_p.A623T|KCNH6_uc010wpm.1_Missense_Mutation_p.A746T|KCNH6_uc002jaz.1_Missense_Mutation_p.A693T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	782	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TCCTGCAGATGCAGCCCCTCC	0.627													A	61621612	G	A	61621612	3	1	181	1	0	0	0	0	1	0	0	0	8036	1319	46	2	2390	2	KCNH6	17	61621612	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	5186451	61621612	19573598	86	96962											
SOX9	6662	broad.mit.edu	37	chr17	70118906	70118907	+	Frame_Shift_Ins	INS	-	-	C													cttcgtggaggaggcggagcINSggctgcgcgtgcagcacaag							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr17:70118905_70118906G>GC	uc002jiw.3	+	1	849_850	c.477_478G>GC	c.(475-480)gagcggfs	p.E159fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	159					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	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			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)			AGGAGGCGGAGCGGCTGCGCGT	0.653													C	70118907	-	C	70118906	7	5	181	1	0	1	1	0	0	0	0	0	14958	759	27	0	484	0	SOX9	17	70118906	Frame_Shift_Ins	INS	-	TCGA-CG-4474-01A-02D-1158-08	8497294	70118906	11076304	87	96963											
RPTOR	57521	broad.mit.edu	37	chr17	78854264	78854264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggccacaagtacttcctgtCggtcctggcggacccctaca	10	16	0	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr17:78854264C>T	uc002jyt.1	+	14	2364	c.1559C>T	c.(1558-1560)TCG>TTG	p.S520L	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	520					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			lung(4)|urinary_tract(1)|ovary(1)	6						TACTTCCTGTCGGTCCTGGCG	0.627													T	78854264	C	T	78854264	3	4	181	1	0	0	0	0	1	0	0	0	13665	893	31	1	1613	1	RPTOR	17	78854264	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	8735358	78854264	2340946	88	96964											
PCSK4	54760	broad.mit.edu	37	chr19	1481952	1481952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctctaagccgggggcGgctgtcgggggtggtgggtc	22	9	1	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:1481952G>A	uc002ltb.1	-	15	2136	c.2074C>T	c.(2074-2076)CGC>TGC	p.R692C	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc002lsy.3_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|C19orf25_uc002lsx.1_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.R179C|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	692	FU.				proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		AGCCGGGGGCGGCTGTCGGGG	0.736													A	1481952	G	A	1481952	3	1	181	1	0	0	0	0	1	0	0	0	11602	1116	39	1	197	1	PCSK4	19	1481952	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08		1481952	57647031	89	96965											
HDGFRP2	84717	broad.mit.edu	37	chr19	4499495	4499495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggtggccagattcgccGttacaaagcgaacaaggacg	12	10	1	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:4499495G>A	uc002mao.2	+	14	1676	c.1583G>A	c.(1582-1584)CGT>CAT	p.R528H	HDGFRP2_uc002map.2_Missense_Mutation_p.R528H|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'UTR|HDGFRP2_uc002maq.1_5'UTR	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	528	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CAGATTCGCCGTTACAAAGCG	0.567													A	4499495	G	A	4499495	3	1	181	1	0	0	0	0	1	0	0	0	7020	1145	40	1	1637	1	HDGFRP2	19	4499495	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	3017543	4499495	54629488	90	96966											
SMARCA4	6597	broad.mit.edu	37	chr19	11123694	11123694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctggccgacgagatgGgcctggggaagaccatccag	15	12	0	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:11123694G>A	uc002mqf.3	+	16	2628	c.2344G>A	c.(2344-2346)GGC>AGC	p.G782S	SMARCA4_uc010dxp.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxo.2_Missense_Mutation_p.G782S|SMARCA4_uc002mqg.1_Missense_Mutation_p.G782S|SMARCA4_uc010dxq.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxr.2_Missense_Mutation_p.G782S|SMARCA4_uc002mqj.3_Missense_Mutation_p.G782S|SMARCA4_uc010dxs.2_Missense_Mutation_p.G782S|SMARCA4_uc010dxt.1_Missense_Mutation_p.G2S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	782	Helicase ATP-binding.|ATP (Potential).				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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGACGAGATGGGCCTGGGGAA	0.572			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11123694	G	A	11123694	3	1	181	1	0	0	0	0	1	0	0	0	14770	1232	43	4	2402	4	SMARCA4	19	11123694	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	6624199	11123694	48005289	91	96967											
MAST3	23031	broad.mit.edu	37	chr19	18218412	18218412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaggagctgagcctgCcacgccgaggacgtgggtga	17	10	0	3			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:18218412C>T	uc002nhz.3	+	2	55	c.55C>T	c.(55-57)CCA>TCA	p.P19S		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	19							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GCTGAGCCTGCCACGCCGAGG	0.572													T	18218412	C	T	18218412	3	4	181	1	0	0	0	0	1	0	0	0	9326	739	26	2	61	2	MAST3	19	18218412	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	7094718	18218412	40910571	92	96968											
MAST3	23031	broad.mit.edu	37	chr19	18255980	18255980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtacggcttcagcctgCgggcgatccgcgtctacatg	13	12	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:18255980C>T	uc002nhz.3	+	23	2893	c.2893C>T	c.(2893-2895)CGG>TGG	p.R965W		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	965	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						CTTCAGCCTGCGGGCGATCCG	0.637													T	18255980	C	T	18255980	3	4	181	1	0	0	0	0	1	0	0	0	9326	759	27	1	2983	1	MAST3	19	18255980	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	37568	18255980	40873003	93	96969											
HOMER3	9454	broad.mit.edu	37	chr19	19049214	19049214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtagactgtgttggcgCgactgtcggcccactgcccg	15	14	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:19049214C>T	uc002nku.2	-	3	904	c.251G>A	c.(250-252)CGC>CAC	p.R84H	HOMER3_uc010eby.2_Missense_Mutation_p.R84H|HOMER3_uc010ebz.2_Missense_Mutation_p.R84H|HOMER3_uc002nkw.2_Missense_Mutation_p.R84H|HOMER3_uc002nkv.2_Missense_Mutation_p.R84H	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	84	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)			TGTGTTGGCGCGACTGTCGGC	0.398													T	19049214	C	T	19049214	3	4	181	1	0	0	0	0	1	0	0	0	7280	768	27	1	862	1	HOMER3	19	19049214	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	793234	19049214	40079769	94	96970											
RHPN2	85415	broad.mit.edu	37	chr19	33486993	33486994	+	Frame_Shift_Del	DEL	CG	CG	-													tcctcctggtgctgggcgtaCgtgagccgggagcgttcctg					rs75351369	byFrequency	TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:33486992_33486993ACG>A	uc002nuf.3	-	10	1425_1426	c.1359_1360CGT>T	c.(1357-1362)acgtacfs	p.T453fs	RHPN2_uc010xro.2_Frame_Shift_Del_p.T302fs|RHPN2_uc002nue.3_Frame_Shift_Del_p.T183fs	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	453	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)					TGCTGGGCGTACGTGAGCCGGG	0.624													-	33486994	CG	-	33486993	7	5	181	1	0	1	0	1	0	0	0	0	13351	523	19	0	721	0	RHPN2	19	33486993	Frame_Shift_Del	DEL	CG	TCGA-CG-4474-01A-02D-1158-08	14437779	33486993	25641990	95	96971											
IL4I1	259307	broad.mit.edu	37	chr19	50398344	50398344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgagagctgggcatgcGcatggctcccagctccccaa	12	15	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr19:50398344G>A	uc002pqt.1	-	4	424	c.346C>T	c.(346-348)CGC>TGC	p.R116C	IL4I1_uc002pqv.1_Missense_Mutation_p.R125C|IL4I1_uc010eno.1_Missense_Mutation_p.R124C|IL4I1_uc002pqw.1_Missense_Mutation_p.R124C|IL4I1_uc002pqu.1_Missense_Mutation_p.R138C	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	116	FAD (By similarity).	Substrate (By similarity).				lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		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)		CTGGGCATGCGCATGGCTCCC	0.632													A	50398344	G	A	50398344	3	1	181	1	0	0	0	0	1	0	0	0	7697	1087	38	1	1377	1	IL4I1	19	50398344	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	16911351	50398344	8730639	96	96972											
SLC4A11	83959	broad.mit.edu	37	chr20	3214843	3214843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggcgaagcatggtccGcagcacgttatccagggagg	16	10	0	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr20:3214843G>A	uc002wig.2	-	4	505	c.457C>T	c.(457-459)CGG>TGG	p.R153W	SLC4A11_uc010zqe.1_Missense_Mutation_p.R180W|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R137W	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	153	Cytoplasmic (Potential).				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			ovary(1)	1						AGCATGGTCCGCAGCACGTTA	0.627													A	3214843	G	A	3214843	3	1	181	1	0	0	0	0	1	0	0	0	14652	1086	38	1	2282	1	SLC4A11	20	3214843	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08		3214843	59810677	97	96973											
ISM1	140862	broad.mit.edu	37	chr20	13251272	13251272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccccagaccgcgattccGacaagagacggggcaccctt	10	16	0	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr20:13251272G>A	uc010gce.1	+	2	266	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	87						extracellular region					0						CCGCGATTCCGACAAGAGACG	0.507													A	13251272	G	A	13251272	3	1	181	1	0	0	0	0	1	0	0	0	7860	1058	37	1	266	1	ISM1	20	13251272	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	10036429	13251272	49774248	98	96974											
SLC24A3	57419	broad.mit.edu	37	chr20	19662610	19662610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacagcagcaactgcgaCgcaactgtggtgctacttaa	11	10	0	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr20:19662610C>T	uc002wrl.2	+	10	1073	c.876C>T	c.(874-876)GAC>GAT	p.D292D		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	292	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GCAACTGCGACGCAACTGTGG	0.333													T	19662610	C	T	19662610	2	4	181	1	0	0	0	0	0	0	0	1	14467	535	19	1		1	SLC24A3	20	19662610	Silent	SNP	C	TCGA-CG-4474-01A-02D-1158-08	6411338	19662610	43362910	99	96975											
TM9SF4	9777	broad.mit.edu	37	chr20	30742950	30742950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttttggcatctgcttcgtAttgaattgcttcatttgggg	11	6	2	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr20:30742950A>G	uc002wxj.2	+	13	1525	c.1290A>G	c.(1288-1290)GTA>GTG	p.V430V	TM9SF4_uc010zts.1_Silent_p.V337V|TM9SF4_uc002wxk.2_Silent_p.V413V|TM9SF4_uc010gdz.2_Intron	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	430	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTGCTTCGTATTGAATTGCT	0.582													G	30742950	A	G	30742950	2	3	181	1	0	0	0	0	0	0	0	1	15977	436	16	3		3	TM9SF4	20	30742950	Silent	SNP	A	TCGA-CG-4474-01A-02D-1158-08	11080340	30742950	32282570	100	96976											
ACSS2	55902	broad.mit.edu	37	chr20	33508432	33508432	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaggatgtgttctggTgcacggcagacattggttgg	16	6	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr20:33508432T>A	uc002xbd.2	+	9	1184	c.1063T>A	c.(1063-1065)TGC>AGC	p.C355S	ACSS2_uc002xbc.2_Missense_Mutation_p.C260S|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.C368S|ACSS2_uc002xbe.2_Missense_Mutation_p.C63S|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	355					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGTTCTGGTGCACGGCAGA	0.532													A	33508432	T	A	33508432	3	1	181	1	0	0	0	0	1	0	0	0	189	1696	59	5	1140	5	ACSS2	20	33508432	Missense_Mutation	SNP	T	TCGA-CG-4474-01A-02D-1158-08	2765482	33508432	29517088	101	96977											
ZBTB46	140685	broad.mit.edu	37	chr20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccctccgtactgagacGgtgaaacctgctcttccttg	9	15	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr20:62421407G>A	uc002ygv.1	-	2	905	c.704C>T	c.(703-705)CCG>CTG	p.P235L	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602													A	62421407	G	A	62421407	3	1	181	1	0	0	0	0	1	0	0	0	17544	1116	39	1	1081	1	ZBTB46	20	62421407	Missense_Mutation	SNP	G	TCGA-CG-4474-01A-02D-1158-08	28912975	62421407	604113	102	96978											
SON	6651	broad.mit.edu	37	chr21	34918579	34918579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattgaaggaaaccaggcGggtgatgcagctgcctctgc	13	12	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr21:34918579G>A	uc002yse.1	+	2	187	c.138G>A	c.(136-138)GCG>GCA	p.A46A	SON_uc002ysb.1_Silent_p.A46A|SON_uc002ysc.2_Silent_p.A46A|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Silent_p.A46A	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	46					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			ovary(4)|skin(2)	6						GAAACCAGGCGGGTGATGCAG	0.408													A	34918579	G	A	34918579	2	1	181	1	0	0	0	0	0	0	0	1	14926	1103	39	1		1	SON	21	34918579	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08		34918579	13211316	103	96979											
SON	6651	broad.mit.edu	37	chr21	34924325	34924325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctcaggatccctataggTtgggccatgacccctataga	10	11	1	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr21:34924325T>C	uc002yse.1	+	3	2837	c.2788T>C	c.(2788-2790)TTG>CTG	p.L930L	SON_uc002ysb.1_Silent_p.L930L|SON_uc002ysc.2_Silent_p.L930L|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	930	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				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			ovary(4)|skin(2)	6						TCCCTATAGGTTGGGCCATGA	0.458													C	34924325	T	C	34924325	2	2	181	1	0	0	0	0	0	0	0	1	14926	1722	60	3		3	SON	21	34924325	Silent	SNP	T	TCGA-CG-4474-01A-02D-1158-08	5746	34924325	13205570	104	96980											
MX1	4599	broad.mit.edu	37	chr21	42824698	42824698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctggaagaagaaAagaagaagaaatcctgggat	14	3	0	6			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr21:42824698A>C	uc002yzh.2	+	18	2607	c.1660A>C	c.(1660-1662)AAG>CAG	p.K554Q	MX1_uc002yzi.2_Missense_Mutation_p.K554Q|MX1_uc010goq.2_Missense_Mutation_p.K554Q	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	554					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGAAGAAGAAAAGAAGAAGAA	0.512													C	42824698	A	C	42824698	3	2	181	1	0	0	0	0	1	0	0	0	9997	15	1	5	1706	5	MX1	21	42824698	Missense_Mutation	SNP	A	TCGA-CG-4474-01A-02D-1158-08	7900373	42824698	5305197	105	96981											
MYH9	4627	broad.mit.edu	37	chr22	36685273	36685273	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagccttggtctccttctctCgggcctccgcctcagcccgg	11	18	3	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chr22:36685273C>G	uc003apg.2	-	32	4646	c.4415G>C	c.(4414-4416)CGA>CCA	p.R1472P		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1472	Potential.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CTCCTTCTCTCGGGCCTCCGC	0.652			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				G	36685273	C	G	36685273	3	3	181	1	0	0	0	0	1	0	0	0	10042	884	31	5	1507	5	MYH9	22	36685273	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08		36685273	14619293	106	96982											
SMS	6611	broad.mit.edu	37	chrX	21995314	21995314	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatataaaaattctacactcGaagcagtttggaaatattct	5	6	2	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:21995314G>A	uc004dag.2	+	5	566	c.465G>A	c.(463-465)TCG>TCA	p.S155S	SMS_uc011mjq.1_Silent_p.S59S|SMS_uc004daf.1_Silent_p.S102S|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	155					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	TTCTACACTCGAAGCAGTTTG	0.433													A	21995314	G	A	21995314	2	1	181	1	0	0	0	0	0	0	0	1	14813	1045	37	1		1	SMS	23	21995314	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08		21995314	133275246	107	96983											
DMD	1756	broad.mit.edu	37	chrX	31854892	31854892	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctgccctttagacaaaatCtcttccacatccggttgttt	6	12	1	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:31854892C>A	uc004dda.1	-	49	7387	c.7143G>T	c.(7141-7143)GAG>GAT	p.E2381D	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.E1037D|DMD_uc004dcx.2_Missense_Mutation_p.E1040D|DMD_uc004dcz.2_Missense_Mutation_p.E2258D|DMD_uc004dcy.1_Missense_Mutation_p.E2377D|DMD_uc004ddb.1_Missense_Mutation_p.E2373D|DMD_uc004ddd.1_5'UTR	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2381					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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TAGACAAAATCTCTTCCACAT	0.403													A	31854892	C	A	31854892	3	1	181	1	0	0	0	0	1	0	0	0	4580	912	32	5	4186	5	DMD	23	31854892	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	9859578	31854892	123415668	108	96984											
CYSLTR1	10800	broad.mit.edu	37	chrX	77529189	77529189	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacttgattgcggaagtcatCaatagtgtcatggcatgtgg	12	7	3	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:77529189C>G	uc004edb.2	-	3	455	c.55G>C	c.(55-57)GAT>CAT	p.D19H	CYSLTR1_uc010nma.2_Missense_Mutation_p.D19H|CYSLTR1_uc010nmb.2_Missense_Mutation_p.D19H	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	19	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CGGAAGTCATCAATAGTGTCA	0.383													G	77529189	C	G	77529189	3	3	181	1	0	0	0	0	1	0	0	0	4201	826	29	5	962	5	CYSLTR1	23	77529189	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	45674297	77529189	77741371	109	96985											
XPNPEP2	7512	broad.mit.edu	37	chrX	128878049	128878049	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcacagatgctcacatggTaagagacagcttctctcccc	9	13	2	2			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:128878049T>G	uc004eut.1	+	3	478	c.234_splice	c.e3+2	p.M78_splice	XPNPEP2_uc011mum.1_Splice_Site_p.M78_splice	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound						cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GCTCACATGGTAAGAGACAGC	0.517													G	128878049	T	G	128878049	5	3	181	1	0	0	0	0	0	0	1	0	17440	1652	57	5	246	5	XPNPEP2	23	128878049	Splice_Site	SNP	T	TCGA-CG-4474-01A-02D-1158-08	51348860	128878049	26392511	110	96986											
SAGE1	55511	broad.mit.edu	37	chrX	134990775	134990775	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgagttccagggatctGtgtatgtgtgttttttagtt	12	4	1	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:134990775G>C	uc004ezh.2	+	12	1607	c.1440G>C	c.(1438-1440)CTG>CTC	p.L480L	SAGE1_uc010nry.1_Silent_p.L449L|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	480										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CCAGGGATCTGTGTATGTGTG	0.398													C	134990775	G	C	134990775	2	2	181	1	0	0	0	0	0	0	0	1	13809	1391	48	5		5	SAGE1	23	134990775	Silent	SNP	G	TCGA-CG-4474-01A-02D-1158-08	6112726	134990775	20279785	111	96987											
AFF2	2334	broad.mit.edu	37	chrX	148062319	148062322	+	Splice_Site	DEL	AAGT	AAGT	-													ctccatgggtaagcaatggaAagtaagtattttctgaaaat							TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:148062318_148062321AAAGT>A	uc004fcp.3	+	19	4102	c.3623_splice	c.e19+1	p.K1208_splice	AFF2_uc004fcq.3_Splice_Site_p.K1198_splice|AFF2_uc004fcr.3_Splice_Site_p.K1169_splice|AFF2_uc011mxb.2_Splice_Site_p.K1173_splice|AFF2_uc004fcs.3_Splice_Site_p.K1173_splice|AFF2_uc011mxc.2_Splice_Site_p.K849_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1208					RNA splicing|brain development|mRNA processing|regulation of 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)					TAAGCAATGGAAAGTAAGTATTTT	0.373													-	148062322	AAGT	-	148062319	8	5	181	1	0	1	0	1	0	0	1	0	357	28	1	0	3751	0	AFF2	23	148062319	Splice_Site	DEL	AAGT	TCGA-CG-4474-01A-02D-1158-08	13071544	148062319	7208241	112	96988											
G6PD	2539	broad.mit.edu	37	chrX	153763395	153763395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccttacatctggctcatgCaggactcgtgaatgttcttg	10	10	3	1			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:153763395C>A	uc004fly.1	-	5	586	c.473G>T	c.(472-474)TGC>TTC	p.C158F	G6PD_uc004flx.1_Missense_Mutation_p.C188F	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	158					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			ovary(4)	4	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)					CTGGCTCATGCAGGACTCGTG	0.647													A	153763395	C	A	153763395	3	1	181	1	0	0	0	0	1	0	0	0	6146	710	25	5	1110	5	G6PD	23	153763395	Missense_Mutation	SNP	C	TCGA-CG-4474-01A-02D-1158-08	5701076	153763395	1507165	113	96989											
TMLHE	55217	broad.mit.edu	37	chrX	154736649	154736649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattctccaacatcttcaAtatattcatgcttcaatggc	4	11	5	0			TCGA-CG-4474-01A-02D-1158-08	TCGA-CG-4474-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76ca314e-8af8-4dd2-a136-9df8e9bd052d	4db705ef-e1e4-4403-8ba3-e8bed2fe3e22	g.chrX:154736649A>G	uc004fnn.2	-	6	1071	c.905T>C	c.(904-906)ATT>ACT	p.I302T	TMLHE_uc004fno.2_Missense_Mutation_p.I302T|TMLHE_uc004fnp.3_Missense_Mutation_p.I302T	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	302					carnitine biosynthetic process	mitochondrial 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|trimethyllysine dioxygenase activity			ovary(1)	1	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	AACATCTTCAATATATTCATG	0.403													G	154736649	A	G	154736649	3	3	181	1	0	0	0	0	1	0	0	0	16229	101	4	3	512	3	TMLHE	23	154736649	Missense_Mutation	SNP	A	TCGA-CG-4474-01A-02D-1158-08	973254	154736649	533911	114	96990											
SFRS11	9295	broad.mit.edu	37	chr1	70716454	70716454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaaagtgaatggggatgAtcatcatgaagaagacatgg	12	5	2	5			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:70716454A>G	uc001des.2	+	13	1545	c.1421A>G	c.(1420-1422)GAT>GGT	p.D474G	SFRS11_uc001det.2_Missense_Mutation_p.D473G|SFRS11_uc001dev.2_Missense_Mutation_p.D284G|SFRS11_uc001dew.2_Missense_Mutation_p.D414G	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	474					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						AATGGGGATGATCATCATGAA	0.403													G	70716454	A	G	70716454	3	3	182	1	0	0	0	0	1	0	0	0	14166	333	12	3	1467	3	SFRS11	1	70716454	Missense_Mutation	SNP	A	TCGA-CG-4475-01A-01D-1158-08		70716454	178534167	1	96991											
NUDT17	200035	broad.mit.edu	37	chr1	145588424	145588424	+	Frame_Shift_Del	DEL	T	T	-													agaactggccctggggcaggTgtagtccactctcctcccaa							TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:145588423_145588423GT>G	uc001eoe.3	-	3	458	c.450_450AC>C	c.(448-450)cacfs	p.H150fs		NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 17 (NUDT17), mRNA.	150	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGGGGCAGGTGTAGTCCAC	0.582											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	145588424	T	-	145588424	7	5	182	1	0	1	0	1	0	0	0	0	10734	1696	59	0	557	0	NUDT17	1	145588424	Frame_Shift_Del	DEL	T	TCGA-CG-4475-01A-01D-1158-08	74871970	145588424	103662197	2	96992											
FLG	2312	broad.mit.edu	37	chr1	152283872	152283872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggtgtgcacgaatggTgtcctgaccctcttgggacg	14	13	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:152283872T>G	uc001ezu.1	-	3	3526	c.3490A>C	c.(3490-3492)ACC>CCC	p.T1164P	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1164	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACGAATGGTGTCCTGACCC	0.607									Ichthyosis				G	152283872	T	G	152283872	3	3	182	1	0	0	0	0	1	0	0	0	5922	1696	59	5	8699	5	FLG	1	152283872	Missense_Mutation	SNP	T	TCGA-CG-4475-01A-01D-1158-08	6695448	152283872	96966749	3	96993											
ASH1L	55870	broad.mit.edu	37	chr1	155449351	155449351	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgagagcaaataggtgatgGaagaatctcagaactactag	11	6	1	4			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:155449351G>C	uc009wqq.2	-	3	3790	c.3310C>G	c.(3310-3312)CCA>GCA	p.P1104A	ASH1L_uc001fkt.2_Missense_Mutation_p.P1104A|ASH1L_uc009wqr.1_Missense_Mutation_p.P1104A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1104					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			ATAGGTGATGGAAGAATCTCA	0.473													C	155449351	G	C	155449351	3	2	182	1	0	0	0	0	1	0	0	0	1041	1174	41	5	5688	5	ASH1L	1	155449351	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	3165479	155449351	93801270	4	96994											
ASH1L	55870	broad.mit.edu	37	chr1	155450163	155450163	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagttgaggcatctccttaGatttaggccttcctcttttg	8	11	2	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:155450163G>C	uc009wqq.2	-	3	2978	c.2498C>G	c.(2497-2499)TCT>TGT	p.S833C	ASH1L_uc001fkt.2_Missense_Mutation_p.S833C|ASH1L_uc009wqr.1_Missense_Mutation_p.S833C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	833					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			CATCTCCTTAGATTTAGGCCT	0.403													C	155450163	G	C	155450163	3	2	182	1	0	0	0	0	1	0	0	0	1041	942	33	5	6500	5	ASH1L	1	155450163	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	812	155450163	93800458	5	96995											
SIPA1L2	57568	broad.mit.edu	37	chr1	232564213	232564213	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcatcaatttcagaaaatCttctttagacagaacatgtt	5	7	4	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:232564213C>T	uc001hvg.2	-	15	4512	c.4354G>A	c.(4354-4356)GAT>AAT	p.D1452N	SIPA1L2_uc001hvf.2_Missense_Mutation_p.D526N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1452					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCAGAAAATCTTCTTTAGAC	0.448													T	232564213	C	T	232564213	3	4	182	1	0	0	0	0	1	0	0	0	14330	913	32	4	842	4	SIPA1L2	1	232564213	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08	77114050	232564213	16686408	6	96996											
HEATR1	55127	broad.mit.edu	37	chr1	236718881	236718881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcctgaatgtgacctcGgaaagtttgacaaccatggc	13	9	0	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:236718881G>A	uc001hyd.1	-	40	5849	c.5724C>T	c.(5722-5724)TCC>TCT	p.S1908S	HEATR1_uc009xgh.1_Silent_p.S1070S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1908					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGTGACCTCGGAAAGTTTGA	0.413													A	236718881	G	A	236718881	2	1	182	1	0	0	0	0	0	0	0	1	7027	1103	39	1		1	HEATR1	1	236718881	Silent	SNP	G	TCGA-CG-4475-01A-01D-1158-08	4154668	236718881	12531740	7	96997											
TFB2M	64216	broad.mit.edu	37	chr1	246727680	246727680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataaaagttttgtcactttCgagcgcaaccactttggcac	7	10	1	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:246727680C>T	uc001ibn.2	-	2	495	c.370G>A	c.(370-372)GAA>AAA	p.E124K	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	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			ovary(1)	1	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													T	246727680	C	T	246727680	3	4	182	1	0	0	0	0	1	0	0	0	15791	893	31	1	848	1	TFB2M	1	246727680	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08	10008799	246727680	2522941	8	96998											
OR2M7	391196	broad.mit.edu	37	chr1	248487715	248487715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggggtgtggagctgggtAtccaggtagatgaggagaac	19	4	0	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:248487715A>G	uc010pzk.1	-	1	156	c.156T>C	c.(154-156)GAT>GAC	p.D52D		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	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)			GGAGCTGGGTATCCAGGTAGA	0.527													G	248487715	A	G	248487715	2	3	182	1	0	0	0	0	0	0	0	1	11014	446	16	3		3	OR2M7	1	248487715	Silent	SNP	A	TCGA-CG-4475-01A-01D-1158-08	1760035	248487715	762906	9	96999											
WDR35	57539	broad.mit.edu	37	chr2	20135333	20135333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctaagcgttcctggttccGtccttgtacataatattgta	8	9	0	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:20135333G>A	uc002rdi.2	-	22	2587	c.2479C>T	c.(2479-2481)CGG>TGG	p.R827W	WDR35_uc002rdj.2_Missense_Mutation_p.R816W|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.R392W|WDR35_uc002rdk.3_Missense_Mutation_p.R392W	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	827										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGTTCCGTCCTTGTACA	0.358													A	20135333	G	A	20135333	3	1	182	1	0	0	0	0	1	0	0	0	17286	1144	40	1	1094	1	WDR35	2	20135333	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08		20135333	223064040	10	97000											
NRXN1	9378	broad.mit.edu	37	chr2	50724576	50724576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaaagatgcatagaaGtgtaggcttgcaaggtagct	13	4	0	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:50724576G>T	uc010fbq.2	-	14	4371	c.2894C>A	c.(2893-2895)ACT>AAT	p.T965N	NRXN1_uc002rxb.3_Missense_Mutation_p.T597N|NRXN1_uc002rxe.3_Missense_Mutation_p.T925N|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGCATAGAAGTGTAGGCTTG	0.398													T	50724576	G	T	50724576	3	4	182	1	0	0	0	0	1	0	0	0	10665	1029	36	5	2052	5	NRXN1	2	50724576	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	30589243	50724576	192474797	11	97001											
TTN	7273	broad.mit.edu	37	chr2	179543553	179543553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggtttcttgggcacttcAggaacttcaaagatatcaaa	8	8	4	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:179543553A>G	uc010zfg.1	-	140	30239	c.30015T>C	c.(30013-30015)CCT>CCC	p.P10005P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6666P|TTN_uc010fre.1_Silent_p.P662P|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10932							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGCACTTCAGGAACTTCAA	0.418													G	179543553	A	G	179543553	2	3	182	1	0	0	0	0	0	0	0	1	16732	175	7	3		3	TTN	2	179543553	Silent	SNP	A	TCGA-CG-4475-01A-01D-1158-08	128818977	179543553	63655820	12	97002											
COL3A1	1281	broad.mit.edu	37	chr2	189859318	189859318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccggaccacgtggtgaaCgcgtaagttttactgcaaca	11	11	0	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:189859318C>T	uc002uqj.1	+	19	1462	c.1345C>T	c.(1345-1347)CGC>TGC	p.R449C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	449	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	p.R449C(1)		central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGTGGTGAACGCGTAAGTTT	0.388													T	189859318	C	T	189859318	3	4	182	1	0	0	0	0	1	0	0	0	3688	536	19	1	1419	1	COL3A1	2	189859318	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08	10315765	189859318	53340055	13	97003											
ATP2C1	27032	broad.mit.edu	37	chr3	130698260	130698260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagactgcagttgcaAtcggtataactagactgctt	10	9	0	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr3:130698260A>G	uc003enl.2	+	19	1960	c.1738A>G	c.(1738-1740)ATC>GTC	p.I580V	ATP2C1_uc011blg.1_Missense_Mutation_p.I614V|ATP2C1_uc011blh.1_Missense_Mutation_p.I575V|ATP2C1_uc011bli.1_Missense_Mutation_p.I614V|ATP2C1_uc003enk.2_Missense_Mutation_p.I564V|ATP2C1_uc003enm.2_Missense_Mutation_p.I580V|ATP2C1_uc003enn.2_Missense_Mutation_p.I564V|ATP2C1_uc003eno.2_Missense_Mutation_p.I580V|ATP2C1_uc003enp.2_Missense_Mutation_p.I580V|ATP2C1_uc003enq.2_Missense_Mutation_p.I580V|ATP2C1_uc003enr.2_Missense_Mutation_p.I580V|ATP2C1_uc003ens.2_Missense_Mutation_p.I580V|ATP2C1_uc003ent.2_Missense_Mutation_p.I580V|ATP2C1_uc003enu.2_Missense_Mutation_p.I258V	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	580	Cytoplasmic (By similarity).		I -> V (in HDD; unable to undergo conformational change necessary for ion transport).		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|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TGCAGTTGCAATCGGTATAAC	0.343									Hailey-Hailey_disease				G	130698260	A	G	130698260	3	3	182	1	0	0	0	0	1	0	0	0	1143	101	4	3	1808	3	ATP2C1	3	130698260	Missense_Mutation	SNP	A	TCGA-CG-4475-01A-01D-1158-08		130698260	67324170	14	97004											
GRID2	2895	broad.mit.edu	37	chr4	94436498	94436498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtattcccaaatgtggcGgatgatcaaccgaagcaatg	10	9	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr4:94436498G>A	uc011cdt.1	+	13	2387	c.2129G>A	c.(2128-2130)CGG>CAG	p.R710Q	GRID2_uc011cdu.1_Missense_Mutation_p.R615Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	710	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	CAAATGTGGCGGATGATCAAC	0.473													A	94436498	G	A	94436498	3	1	182	1	0	0	0	0	1	0	0	0	6772	1116	39	1	2179	1	GRID2	4	94436498	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08		94436498	96717778	15	97005											
MTRR	4552	broad.mit.edu	37	chr5	7869264	7869264	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatgggcgctgcgtcagtGcgcgctggcgcaaggttggt	18	10	1	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:7869264G>T	uc003jed.2	+	1	48	c.18G>T	c.(16-18)GTG>GTT	p.V6V	FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_5'UTR|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	6					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTGCGTCAGTGCGCGCTGGCG	0.672													T	7869264	G	T	7869264	2	4	182	1	0	0	0	0	0	0	0	1	9961	1306	46	5		5	MTRR	5	7869264	Silent	SNP	G	TCGA-CG-4475-01A-01D-1158-08		7869264	173045996	16	97006											
HMGCS1	3157	broad.mit.edu	37	chr5	43294196	43294196	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgactttaagagagtacagaGtggcagccaaaccagaacca	10	9	0	4			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:43294196G>C	uc003jnr.3	-	8	1352	c.1145C>G	c.(1144-1146)ACT>AGT	p.T382S	HMGCS1_uc003jnp.3_Missense_Mutation_p.T63S|HMGCS1_uc003jnq.3_Missense_Mutation_p.T382S	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	382					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						AGAGTACAGAGTGGCAGCCAA	0.373													C	43294196	G	C	43294196	3	2	182	1	0	0	0	0	1	0	0	0	7232	1029	36	5	433	5	HMGCS1	5	43294196	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	35424932	43294196	137621064	17	97007											
PCDHGC5	56097	broad.mit.edu	37	chr5	140768803	140768804	+	Frame_Shift_Del	DEL	CA	CA	-													tgacaacgctccggttttctCacagtcttcctatatagtcc							TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:140768802_140768803TCA>T	uc003lkc.2	+	0	1351_1352	c.1351_1352TCA>T	c.(1351-1353)tcafs	p.S451fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	455	Cadherin 4.				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)			TCCGGTTTTCTCACAGTCTTCC	0.545													-	140768804	CA	-	140768803	7	5	182	1	0	1	0	1	0	0	0	0	11571	838	29	0		0	PCDHGC5	5	140768803	Frame_Shift_Del	DEL	CA	TCGA-CG-4475-01A-01D-1158-08	97474607	140768803	40146457	18	97008											
PCDHGA10	56106	broad.mit.edu	37	chr5	140792994	140792994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctctctgaacccgcgCagcggcagcttgatcaccgc	9	16	3	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:140792994C>T	uc003lkl.1	+	1	252	c.252C>T	c.(250-252)CGC>CGT	p.R84R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.R84R	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	84	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACCCGCGCAGCGGCAGCT	0.627													T	140792994	C	T	140792994	2	4	182	1	0	0	0	0	0	0	0	1	11551	697	25	2		2	PCDHGA10	5	140792994	Silent	SNP	C	TCGA-CG-4475-01A-01D-1158-08	24191	140792994	40122266	19	97009											
SPRY4	81848	broad.mit.edu	37	chr5	141694444	141694444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcacagcgggcgggcGtcggggccagctctggggcc	19	14	2	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:141694444G>A	uc003lml.2	-	2	489	c.230C>T	c.(229-231)ACG>ATG	p.T77M	SPRY4_uc010jgi.1_Missense_Mutation_p.T100M	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	77					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGCGGGCGTCGGGGCCAG	0.657									Testicular_Cancer_Familial_Clustering_of				A	141694444	G	A	141694444	3	1	182	1	0	0	0	0	1	0	0	0	15107	1145	40	1	673	1	SPRY4	5	141694444	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	901450	141694444	39220816	20	97010											
FAT2	2196	broad.mit.edu	37	chr5	150934214	150934214	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggacttcagtgagggttcCccattgtccagcacagtcac	11	12	2	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:150934214C>A	uc003lue.3	-	4	3667	c.3654G>T	c.(3652-3654)GGG>GGT	p.G1218G	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1218	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGGTTCCCCATTGTCCA	0.488													A	150934214	C	A	150934214	2	1	182	1	0	0	0	0	0	0	0	1	5690	610	22	5		5	FAT2	5	150934214	Silent	SNP	C	TCGA-CG-4475-01A-01D-1158-08	9239770	150934214	29981046	21	97011											
NOTCH4	4855	broad.mit.edu	37	chr6	32172008	32172008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctggtccagacactcGtccacgtctccctcacagcg	10	17	2	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:32172008G>A	uc003obb.2	-	19	3163	c.3024C>T	c.(3022-3024)GAC>GAT	p.D1008D	NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1008	Extracellular (Potential).|EGF-like 26.				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CCAGACACTCGTCCACGTCTC	0.607													A	32172008	G	A	32172008	2	1	182	1	0	0	0	0	0	0	0	1	10551	1136	40	1		1	NOTCH4	6	32172008	Silent	SNP	G	TCGA-CG-4475-01A-01D-1158-08		32172008	138943059	22	97012											
GJA10	84694	broad.mit.edu	37	chr6	90605698	90605698	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctggatgctttctttttcCtttctttcttcctggggtgt	8	9	4	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:90605698C>G	uc011eaa.1	+	1	1511	c.1511C>G	c.(1510-1512)CCT>CGT	p.P504R		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	504	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		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)		TTTCTTTTTCCTTTCTTTCTT	0.428													G	90605698	C	G	90605698	3	3	182	1	0	0	0	0	1	0	0	0	6401	681	24	5	1513	5	GJA10	6	90605698	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08	58433690	90605698	80509369	23	97013											
PTPRK	5796	broad.mit.edu	37	chr6	128298175	128298175	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagagggtattgtgtgacgaTgaaagcagctggttgcctgt	15	6	0	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:128298175T>A	uc003qbk.2	-	26	4100	c.3733A>T	c.(3733-3735)ATC>TTC	p.I1245F	PTPRK_uc003qbj.2_Missense_Mutation_p.I1246F|PTPRK_uc010kfc.2_Missense_Mutation_p.I1252F|PTPRK_uc011ebu.1_Missense_Mutation_p.I1268F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1245	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGTGACGATGAAAGCAGCT	0.383													A	128298175	T	A	128298175	3	1	182	1	0	0	0	0	1	0	0	0	12805	1464	51	5	606	5	PTPRK	6	128298175	Missense_Mutation	SNP	T	TCGA-CG-4475-01A-01D-1158-08	37692477	128298175	42816892	24	97014											
MAP3K4	4216	broad.mit.edu	37	chr6	161470483	161470483	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggacagggtgcaggcactCtgtttgtggttaaacatcac	12	9	2	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:161470483C>T	uc003qtn.2	+	3	1321	c.1179C>T	c.(1177-1179)CTC>CTT	p.L393L	MAP3K4_uc010kkc.1_Silent_p.L393L|MAP3K4_uc003qto.2_Silent_p.L393L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	393					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			ovary(3)|lung(3)|skin(2)|stomach(1)	9		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)		TGCAGGCACTCTGTTTGTGGT	0.408													T	161470483	C	T	161470483	2	4	182	1	0	0	0	0	0	0	0	1	9252	900	32	4		4	MAP3K4	6	161470483	Silent	SNP	C	TCGA-CG-4475-01A-01D-1158-08	33172308	161470483	9644584	25	97015											
PEG10	23089	broad.mit.edu	37	chr7	94293463	94293463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggacctggattggaacGagcctgcgctgattgaccag	13	12	0	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr7:94293463G>A	uc011kie.1	+	2	1040	c.823G>A	c.(823-825)GAG>AAG	p.E275K		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	199	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	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)			GGATTGGAACGAGCCTGCGCT	0.582													A	94293463	G	A	94293463	3	1	182	1	0	0	0	0	1	0	0	0	11719	1059	37	1	829	1	PEG10	7	94293463	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08		94293463	64845200	26	97016											
TEX15	56154	broad.mit.edu	37	chr8	30695201	30695201	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttgggtgggatctggggAatttttaagaaatttctgca	12	3	2	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:30695201A>T	uc003xil.2	-	3	7450	c.7450T>A	c.(7450-7452)TCC>ACC	p.S2484T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2484										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGATCTGGGGAATTTTTAAGA	0.413													T	30695201	A	T	30695201	3	4	182	1	0	0	0	0	1	0	0	0	15776	246	9	5	927	5	TEX15	8	30695201	Missense_Mutation	SNP	A	TCGA-CG-4475-01A-01D-1158-08		30695201	115668821	27	97017											
OSGIN2	734	broad.mit.edu	37	chr8	90937575	90937575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtaagggtaatcctgtgGaaatagatacatatacctat	8	6	0	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:90937575G>A	uc003yeg.2	+	6	1679	c.1333G>A	c.(1333-1335)GAA>AAA	p.E445K	OSGIN2_uc003yeh.2_Missense_Mutation_p.E489K	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	445					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TAATCCTGTGGAAATAGATAC	0.403													A	90937575	G	A	90937575	3	1	182	1	0	0	0	0	1	0	0	0	11290	1175	41	4	1487	4	OSGIN2	8	90937575	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	60242374	90937575	55426447	28	97018											
VPS13B	157680	broad.mit.edu	37	chr8	100673652	100673652	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagacagtgcctggagaaatAgacagcaaaagtggtattcc	11	8	0	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:100673652A>T	uc003yiv.2	+	35	6165	c.6054A>T	c.(6052-6054)ATA>ATT	p.I2018I	VPS13B_uc003yiw.2_Silent_p.I1993I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2018					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGGAGAAATAGACAGCAAAA	0.373													T	100673652	A	T	100673652	2	4	182	1	0	0	0	0	0	0	0	1	17187	410	15	5		5	VPS13B	8	100673652	Silent	SNP	A	TCGA-CG-4475-01A-01D-1158-08	9736077	100673652	45690370	29	97019											
ZFPM2	23414	broad.mit.edu	37	chr8	106815406	106815406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgaagaaagattctctGccattgttgcccaaaaatcg	9	10	1	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:106815406G>A	uc003ymd.2	+	8	3119	c.3096G>A	c.(3094-3096)CTG>CTA	p.L1032L	ZFPM2_uc011lhs.1_Silent_p.L763L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	1032					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGATTCTCTGCCATTGTTGC	0.458													A	106815406	G	A	106815406	2	1	182	1	0	0	0	0	0	0	0	1	17655	1306	46	2		2	ZFPM2	8	106815406	Silent	SNP	G	TCGA-CG-4475-01A-01D-1158-08	6141754	106815406	39548616	30	97020											
CSMD3	114788	broad.mit.edu	37	chr8	114186043	114186043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatcaaggatgtatccaGttacacagctgtagcggatc	11	10	1	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:114186043G>A	uc003ynu.2	-	4	776	c.617C>T	c.(616-618)ACT>ATT	p.T206I	CSMD3_uc003ynt.2_Missense_Mutation_p.T166I|CSMD3_uc011lhx.1_Missense_Mutation_p.T206I|CSMD3_uc010mcx.1_Missense_Mutation_p.T206I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	206	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATGTATCCAGTTACACAGCT	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	114186043	G	A	114186043	3	1	182	1	0	0	0	0	1	0	0	0	3946	1029	36	4	10778	4	CSMD3	8	114186043	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	7370637	114186043	32177979	31	97021											
PUF60	22827	broad.mit.edu	37	chr8	144902846	144902846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctattgaccgattgcaaaGgtgagagaggatctccaaag	11	7	2	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:144902846G>A	uc003yzs.2	-	5	402	c.338C>T	c.(337-339)CCT>CTT	p.P113L	PUF60_uc003yzr.2_Intron|PUF60_uc003yzt.2_Intron|PUF60_uc003yzq.2_Missense_Mutation_p.P70L|PUF60_uc003yzu.1_Missense_Mutation_p.P102L	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	113	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				0	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)			CGATTGCAAAGGTGAGAGAGG	0.552													A	144902846	G	A	144902846	3	1	182	1	0	0	0	0	1	0	0	0	12824	1000	35	4	1373	4	PUF60	8	144902846	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	30716803	144902846	1461176	32	97022											
SHARPIN	81858	broad.mit.edu	37	chr8	145154720	145154720	+	Frame_Shift_Del	DEL	G	G	-													tctcgtctccacctgcaataGcccgggccaggctccctgcc							TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:145154720delG	uc003zba.2	-	4	1029	c.545delC	c.(544-546)GCTfs	p.A182fs	SHARPIN_uc003zbb.2_RNA	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	182	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCTGCAATAGCCCGGGCCAG	0.642													-	145154720	G	-	145154720	7	5	182	1	0	1	0	1	0	0	0	0	14267	971	34	0	638	0	SHARPIN	8	145154720	Frame_Shift_Del	DEL	G	TCGA-CG-4475-01A-01D-1158-08	251874	145154720	1209302	33	97023											
GSN	2934	broad.mit.edu	37	chr9	124094717	124094717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgtgtctgcagctaagCggtacatcgagacggaccca	12	12	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:124094717C>T	uc004blf.1	+	17	2246	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	GSN_uc004bld.1_Missense_Mutation_p.R678W|GSN_uc010mvq.1_Missense_Mutation_p.R689W|GSN_uc010mvr.1_Missense_Mutation_p.R689W|GSN_uc010mvu.1_Missense_Mutation_p.R678W|GSN_uc010mvt.1_Missense_Mutation_p.R678W|GSN_uc010mvs.1_Missense_Mutation_p.R678W|GSN_uc004ble.1_Missense_Mutation_p.R678W|GSN_uc010mvv.1_Missense_Mutation_p.R678W|GSN_uc011lyh.1_Missense_Mutation_p.R695W|GSN_uc011lyi.1_Missense_Mutation_p.R678W|GSN_uc011lyj.1_Missense_Mutation_p.R702W	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	729	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						TGCAGCTAAGCGGTACATCGA	0.572											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	124094717	C	T	124094717	3	4	182	1	0	0	0	0	1	0	0	0	6825	759	27	1	2279	1	GSN	9	124094717	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08		124094717	17118714	34	97024											
LAMC3	10319	broad.mit.edu	37	chr9	133948214	133948214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcagctgccattctcGcgtctctggtatcccagggg	12	13	2	0	rs149766298	byFrequency	TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:133948214G>A	uc004caa.1	+	19	3507	c.3409G>A	c.(3409-3411)GCG>ACG	p.A1137T		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1137	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGCCATTCTCGCGTCTCTGGT	0.443													A	133948214	G	A	133948214	3	1	182	1	0	0	0	0	1	0	0	0	8616	1087	38	1	3483	1	LAMC3	9	133948214	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	9853497	133948214	7265217	35	97025											
BAT2L1	84726	broad.mit.edu	37	chr9	134319661	134319661	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggcaggacaaggctggcaaaGaaaagggcgtcttagatctg	15	7	2	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:134319661G>C	uc004can.3	+	5	614	c.559G>C	c.(559-561)GAA>CAA	p.E187Q	BAT2L1_uc004cam.1_Missense_Mutation_p.E187Q	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	187							protein binding				0						GGCTGGCAAAGAAAAGGGCGT	0.547													C	134319661	G	C	134319661	3	2	182	1	0	0	0	0	1	0	0	0	1320	943	33	5	577	5	BAT2L1	9	134319661	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	371447	134319661	6893770	36	97026			1	48		2	2	16	G		2.955694e-05
BAT2L1	84726	broad.mit.edu	37	chr9	134319676	134319676	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaaagaaaagggcgtcttaGatctgtcgtatgggccagga	14	7	2	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:134319676G>A	uc004can.3	+	5	629	c.574G>A	c.(574-576)GAT>AAT	p.D192N	BAT2L1_uc004cam.1_Missense_Mutation_p.D192N	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	192							protein binding				0						GGGCGTCTTAGATCTGTCGTA	0.557													A	134319676	G	A	134319676	3	1	182	1	0	0	0	0	1	0	0	0	1320	942	33	4	592	4	BAT2L1	9	134319676	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	15	134319676	6893755	37	97027			1	48		2	2	16	G		2.955694e-05
MYST4	23522	broad.mit.edu	37	chr10	76789623	76789623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcacaactgagaactacGaaaacccaagcagctacgat	8	11	0	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr10:76789623G>A	uc001jwn.1	+	18	5534	c.5041G>A	c.(5041-5043)GAA>AAA	p.E1681K	MYST4_uc001jwo.1_Missense_Mutation_p.E1389K|MYST4_uc001jwp.1_Missense_Mutation_p.E1498K	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1681	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TGAGAACTACGAAAACCCAAG	0.493			T	CREBBP	AML								A	76789623	G	A	76789623	3	1	182	1	0	0	0	0	1	0	0	0	10105	1059	37	1	5103	1	MYST4	10	76789623	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08		76789623	58745124	38	97028											
MUC6	4588	broad.mit.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-													cagaaggactgggagaaaatGaggaggacagctgattagtt							TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:1016411_1016413TGAG>T	uc001lsw.2	-	30	6439_6441	c.6388_6390CTCA>A	c.(6388-6390)tca>A	p.S2130del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2130	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		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)		TGGGAGAAAATGAGGAGGACAGC	0.522													-	1016414	GAG	-	1016412	7	5	182	1	0	1	0	1	0	0	0	0	9980	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-CG-4475-01A-01D-1158-08		1016412	133990104	39	97029											
MUC6	4588	broad.mit.edu	37	chr11	1017246	1017251	+	In_Frame_Del	DEL	GTACTT	GTACTT	-													tagggatgatgaccgtgtgaGtacttggagtcaccaaggag					rs71472140		TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:1017245_1017250AGTACTT>A	uc001lsw.2	-	30	5602_5607	c.5551_5556AAGTACT>T	c.(5551-5556)agtact>T	p.ST1851del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1851	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)		TGACCGTGTGAGTACTTGGAGTCACC	0.544													-	1017251	GTACTT	-	1017246	7	5	182	1	0	1	0	1	0	0	0	0	9980	1029	36	0	1776	0	MUC6	11	1017246	In_Frame_Del	DEL	GTACTT	TCGA-CG-4475-01A-01D-1158-08	834	1017246	133989270	40	97030											
MTNR1B	4544	broad.mit.edu	37	chr11	92702951	92702951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggtgggcagtgcgcccGggctggtcgggggctggcag	24	10	0	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:92702951G>A	uc001pdk.1	+	1	163	c.60G>A	c.(58-60)CCG>CCA	p.P20P		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	20	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAGTGCGCCCGGGCTGGTCGG	0.741													A	92702951	G	A	92702951	2	1	182	1	0	0	0	0	0	0	0	1	9952	1103	39	1		1	MTNR1B	11	92702951	Silent	SNP	G	TCGA-CG-4475-01A-01D-1158-08	91685705	92702951	42303565	41	97031											
C11orf87	399947	broad.mit.edu	37	chr11	109294681	109294681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcgggatcactgcagcGgcagccgcggtggcgggggg	21	10	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:109294681G>A	uc001pkn.2	+	2	696	c.322G>A	c.(322-324)GGC>AGC	p.G108S	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	108	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2						TCACTGCAGCGGCAGCCGCGG	0.647													A	109294681	G	A	109294681	3	1	182	1	0	0	0	0	1	0	0	0	1669	1116	39	1	324	1	C11orf87	11	109294681	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08	16591730	109294681	25711835	42	97032											
PRPH	5630	broad.mit.edu	37	chr12	49690240	49690240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgatgccactctgtcccGcctggaactagagcgcaaga	12	13	1	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:49690240G>T	uc001rtu.2	+	3	707	c.632G>T	c.(631-633)CGC>CTC	p.R211L		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	211	Coil 1B.|Rod.						structural molecule activity				0						ACTCTGTCCCGCCTGGAACTA	0.572													T	49690240	G	T	49690240	3	4	182	1	0	0	0	0	1	0	0	0	12576	1087	38	5	642	5	PRPH	12	49690240	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08		49690240	84161655	43	97033											
ESPL1	9700	broad.mit.edu	37	chr12	53673625	53673625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacccagctcctcctgaCcctcggctgtcccagctatg	7	19	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:53673625C>T	uc001sck.2	+	12	2565	c.2474C>T	c.(2473-2475)ACC>ATC	p.T825I	ESPL1_uc001scj.2_Missense_Mutation_p.T500I|ESPL1_uc010soe.1_Missense_Mutation_p.T36I	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	825					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			lung(1)|kidney(1)|skin(1)	3						CTCCTCCTGACCCTCGGCTGT	0.622													T	53673625	C	T	53673625	3	4	182	1	0	0	0	0	1	0	0	0	5253	507	18	4	2516	4	ESPL1	12	53673625	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08	3983385	53673625	80178270	44	97034											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038074	72038074	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttccatgcctttgttTgctgcttcctcaatgcttgt	7	11	2	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:72038074T>A	uc001swo.2	-	5	1663	c.1304A>T	c.(1303-1305)CAA>CTA	p.Q435L		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	435	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TGCCTTTGTTTGCTGCTTCCT	0.179													A	72038074	T	A	72038074	3	1	182	1	0	0	0	0	1	0	0	0	17630	1812	63	5	4789	5	ZFC3H1	12	72038074	Missense_Mutation	SNP	T	TCGA-CG-4475-01A-01D-1158-08	18364449	72038074	61813821	45	97035											
UTP20	27340	broad.mit.edu	37	chr12	101739354	101739354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcagcaggattataccaCaatactttcctgtttaattc	4	9	1	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:101739354C>T	uc001tia.1	+	37	4784	c.4628C>T	c.(4627-4629)ACA>ATA	p.T1543I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1543					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			ovary(2)|breast(2)	4						GATTATACCACAATACTTTCC	0.308													T	101739354	C	T	101739354	3	4	182	1	0	0	0	0	1	0	0	0	17096	478	17	4	4774	4	UTP20	12	101739354	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08	29701280	101739354	32112541	46	97036											
ORAI1	84876	broad.mit.edu	37	chr12	122078977	122078982	+	In_Frame_Del	DEL	GACCAC	GACCAC	-													tggaggtgcagctggacgctGaccacgactacccaccgggg							TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:122078976_122078981TGACCAC>T	uc021rff.1	+	1	532_537	c.339_344TGACCAC>T	c.(337-345)gctgaccac>gcTc	p.DH114del		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	112					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)		AGCTGGACGCTGACCACGACTACCCA	0.631													-	122078982	GACCAC	-	122078977	7	5	182	1	0	1	0	1	0	0	0	0	11257	1290	45	0	346	0	ORAI1	12	122078977	In_Frame_Del	DEL	GACCAC	TCGA-CG-4475-01A-01D-1158-08	20339623	122078977	11772918	47	97037											
POMP	51371	broad.mit.edu	37	chr13	29238647	29238647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaatgtcctttcagtTtttcttgtgtgaaaaatgaa	6	4	2	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr13:29238647T>G	uc001usf.2	+	3	184	c.103T>G	c.(103-105)TTT>GTT	p.F35V		NM_015932	NP_057016	Q9Y244	POMP_HUMAN	proteasome maturation protein	35					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex					0		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCCTTTCAGTTTTTCTTGTGT	0.234													G	29238647	T	G	29238647	3	3	182	1	0	0	0	0	1	0	0	0	12244	1855	64	5	113	5	POMP	13	29238647	Missense_Mutation	SNP	T	TCGA-CG-4475-01A-01D-1158-08		29238647	85931231	48	97038											
ESD	2098	broad.mit.edu	37	chr13	47351721	47351721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttagtatgtccagctgagatCctggataggatttcacaagg	11	7	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr13:47351721C>A	uc001vbn.2	-	9	821	c.638G>T	c.(637-639)GGA>GTA	p.G213V	ESD_uc001vbo.2_Missense_Mutation_p.G213V|ESD_uc001vbp.1_Missense_Mutation_p.G71V	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	213						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		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)	CAGCTGAGATCCTGGATAGGA	0.368													A	47351721	C	A	47351721	3	1	182	1	0	0	0	0	1	0	0	0	5250	855	30	5	218	5	ESD	13	47351721	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08	18113074	47351721	67818157	49	97039											
RTF1	23168	broad.mit.edu	37	chr15	41766890	41766890	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagaacaaacaaagggCtgcaactacggtaggaggca	12	10	0	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr15:41766890C>G	uc001zny.2	+	9	1288	c.1276C>G	c.(1276-1278)CTG>GTG	p.L426V		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	426	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		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)		AAACAAAGGGCTGCAACTACG	0.517													G	41766890	C	G	41766890	3	3	182	1	0	0	0	0	1	0	0	0	13721	796	28	5	1310	5	RTF1	15	41766890	Missense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08		41766890	60764502	50	97040											
ACSM2A	123876	broad.mit.edu	37	chr16	20497944	20497944	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcacagggaaaattcaaCgagccaagcttcgagacaag	10	10	2	1	rs144468742	byFrequency	TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr16:20497944C>T	uc010bwe.2	+	15	1917	c.1678C>T	c.(1678-1680)CGA>TGA	p.R560*	ACSM2A_uc002dhf.3_Nonsense_Mutation_p.R560*|ACSM2A_uc002dhg.3_Nonsense_Mutation_p.R560*|ACSM2A_uc010vay.1_Nonsense_Mutation_p.R481*|ACSM2A_uc002dhh.3_Nonsense_Mutation_p.R190*|uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	560					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GAAAATTCAACGAGCCAAGCT	0.473													T	20497944	C	T	20497944	4	4	182	1	0	0	0	0	0	1	0	0	183	528	19	1	1728	1	ACSM2A	16	20497944	Nonsense_Mutation	SNP	C	TCGA-CG-4475-01A-01D-1158-08		20497944	69856809	51	97041											
MYH3	4621	broad.mit.edu	37	chr17	10546195	10546195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcccgaagtcaatgaacGtccactcgatgccttccttc	6	16	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr17:10546195G>A	uc002gmq.1	-	14	1606	c.1529C>T	c.(1528-1530)ACG>ATG	p.T510M		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	510	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GTCAATGAACGTCCACTCGAT	0.507													A	10546195	G	A	10546195	3	1	182	1	0	0	0	0	1	0	0	0	10036	1145	40	1	4401	1	MYH3	17	10546195	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08		10546195	70649015	52	97042											
CPAMD8	27151	broad.mit.edu	37	chr19	17025586	17025586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccacgaagataaagctgcGagcctgtgcgaaggacttca	12	10	1	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:17025586G>A	uc002nfb.2	-	28	3840	c.3808C>T	c.(3808-3810)CGC>TGC	p.R1270C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1223						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						ATAAAGCTGCGAGCCTGTGCG	0.423													A	17025586	G	A	17025586	3	1	182	1	0	0	0	0	1	0	0	0	3795	1058	37	1	2050	1	CPAMD8	19	17025586	Missense_Mutation	SNP	G	TCGA-CG-4475-01A-01D-1158-08		17025586	42103397	53	97043											
CAPN12	147968	broad.mit.edu	37	chr19	39228254	39228254	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atctgcacggtgtcgaaatgGaggaggaagtcccgcagctc	14	10	1	0			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:39228254G>C	uc002ojd.1	-	9	1299	c.990C>G	c.(988-990)CTC>CTG	p.L330L	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	330	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGTCGAAATGGAGGAGGAAGT	0.687													C	39228254	G	C	39228254	2	2	182	1	0	0	0	0	0	0	0	1	2625	1161	41	5		5	CAPN12	19	39228254	Silent	SNP	G	TCGA-CG-4475-01A-01D-1158-08	22202668	39228254	19900729	54	97044											
ZNF283	284349	broad.mit.edu	37	chr19	44351768	44351768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagccttgctaaacatgagAtaattcatacaggtgagaaa	8	7	1	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:44351768A>G	uc002oxr.3	+	7	1283	c.1015A>G	c.(1015-1017)ATA>GTA	p.I339V	ZNF283_uc002oxp.3_Missense_Mutation_p.I200V	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	339	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TAAACATGAGATAATTCATAC	0.393													G	44351768	A	G	44351768	3	3	182	1	0	0	0	0	1	0	0	0	17817	333	12	3	1029	3	ZNF283	19	44351768	Missense_Mutation	SNP	A	TCGA-CG-4475-01A-01D-1158-08	5123514	44351768	14777215	55	97045											
ZNF530	348327	broad.mit.edu	37	chr19	58117777	58117777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacactggagaaaggccttAtgactgcagtgaatgtggca	12	8	1	3			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:58117777A>C	uc002qpk.2	+	3	1104	c.884A>C	c.(883-885)TAT>TCT	p.Y295S	ZNF547_uc002qpm.3_Missense_Mutation_p.M278L|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	295	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GAAAGGCCTTATGACTGCAGT	0.438													C	58117777	A	C	58117777	3	2	182	1	0	0	0	0	1	0	0	0	17968	449	16	5	894	5	ZNF530	19	58117777	Missense_Mutation	SNP	A	TCGA-CG-4475-01A-01D-1158-08	13766009	58117777	1011206	56	97046											
ZNF133	7692	broad.mit.edu	37	chr20	18297430	18297430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctgagccgtgtgcaggGcaaccttcggattccttata	11	12	0	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:18297430G>A	uc010gcq.2	+	5	2240	c.1935G>A	c.(1933-1935)GGG>GGA	p.G645G	ZNF133_uc010zrv.1_Silent_p.G648G|ZNF133_uc010zrw.1_Silent_p.G582G|ZNF133_uc010gcr.2_Silent_p.G645G|ZNF133_uc010zrx.1_Silent_p.G550G|ZNF133_uc002wql.3_Silent_p.G644G|ZNF133_uc010gcs.2_Silent_p.G644G|ZNF133_uc010zry.1_Silent_p.G550G|ZNF133_uc002wqm.2_Silent_p.G645G	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	645						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						CGTGTGCAGGGCAACCTTCGG	0.532													A	18297430	G	A	18297430	2	1	182	1	0	0	0	0	0	0	0	1	17720	1190	42	2		2	ZNF133	20	18297430	Silent	SNP	G	TCGA-CG-4475-01A-01D-1158-08		18297430	44728090	57	97047											
KIAA0406	9675	broad.mit.edu	37	chr20	36624824	36624824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtttgacactgaggtaAatcaagcaggcatcagccac	11	10	2	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:36624824A>C	uc002xhl.2	-	8	3248	c.3039T>G	c.(3037-3039)ATT>ATG	p.I1013M	KIAA0406_uc002xhm.2_Missense_Mutation_p.I1013M	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	1013							binding				0		Myeloproliferative disorder(115;0.00874)				CACTGAGGTAAATCAAGCAGG	0.463													C	36624824	A	C	36624824	3	2	182	1	0	0	0	0	1	0	0	0	8173	10	1	5	238	5	KIAA0406	20	36624824	Missense_Mutation	SNP	A	TCGA-CG-4475-01A-01D-1158-08	18327394	36624824	26400696	58	97048											
DPM1	8813	broad.mit.edu	37	chr20	49565188	49565188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcccaactttttctctcgTggtcttagaagctgtaggaa	9	9	2	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:49565188T>C	uc002xvw.1	-	3	273	c.273A>G	c.(271-273)CCA>CCG	p.P91P	DPM1_uc002xvv.1_5'Flank|DPM1_uc002xvx.1_RNA	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	91					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1						TTTTCTCTCGTGGTCTTAGAA	0.378													C	49565188	T	C	49565188	2	2	182	1	0	0	0	0	0	0	0	1	4724	1683	59	3		3	DPM1	20	49565188	Silent	SNP	T	TCGA-CG-4475-01A-01D-1158-08	12940364	49565188	13460332	59	97049											
TSHZ2	128553	broad.mit.edu	37	chr20	51872838	51872838	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatcagtcacttagaatcTcacctgggtttccaaatgaa	6	10	3	2			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:51872838T>G	uc002xwo.2	+	2	3797	c.2841T>G	c.(2839-2841)TCT>TCG	p.S947S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	947	C2H2-type 4.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			ACTTAGAATCTCACCTGGGTT	0.498													G	51872838	T	G	51872838	2	3	182	1	0	0	0	0	0	0	0	1	16621	1538	54	5		5	TSHZ2	20	51872838	Silent	SNP	T	TCGA-CG-4475-01A-01D-1158-08	2307650	51872838	11152682	60	97050											
BACE2	25825	broad.mit.edu	37	chr21	42647386	42647386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgctcagtctttgagCgagcccattttgtggattgt	11	11	2	1			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr21:42647386C>T	uc002yyw.2	+	9	1855	c.1392C>T	c.(1390-1392)AGC>AGT	p.S464S	BACE2_uc002yyx.2_Silent_p.S414S|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	464	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGTCTTTGAGCGAGCCCATTT	0.547													T	42647386	C	T	42647386	2	4	182	1	0	0	0	0	0	0	0	1	1282	767	27	1		1	BACE2	21	42647386	Silent	SNP	C	TCGA-CG-4475-01A-01D-1158-08		42647386	5482509	61	97051											
LRRC47	57470	broad.mit.edu	37	chr1	3701670	3701670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaggtcctgtgggggcCgggcgcagtacagcaggggc	19	11	0	1	rs139681433		TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:3701670C>T	uc001akx.1	-	3	1203	c.1175G>A	c.(1174-1176)CGG>CAG	p.R392Q		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	392					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	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)		CTGTGGGGGCCGGGCGCAGTA	0.622													T	3701670	C	T	3701670	3	4	183	1	0	0	0	0	1	0	0	0	9004	652	23	1	596	1	LRRC47	1	3701670	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		3701670	245548951	1	97052											
MFN2	9927	broad.mit.edu	37	chr1	12062117	12062117	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagattgcagaggcggttCgactcatcatggactccctg	12	11	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:12062117C>T	uc001atn.3	+	11	1570	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*	MFN2_uc009vni.2_Nonsense_Mutation_p.R373*	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	373	Cytoplasmic (Potential).				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			ovary(1)	1	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)		AGAGGCGGTTCGACTCATCAT	0.587													T	12062117	C	T	12062117	4	4	183	1	0	0	0	0	0	1	0	0	9524	876	31	1	1151	1	MFN2	1	12062117	Nonsense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	8360447	12062117	237188504	2	97053											
DOCK7	85440	broad.mit.edu	37	chr1	63128728	63128729	+	Missense_Mutation	DNP	TA	TA	AC													ggatatattgccaacaatatTaaggtttttgagcagttggg							TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:63128728_63128729TA>AC	uc001daq.2	-	2	145_146	c.111_112TA>GT	c.(109-114)CTTAAT>CTGTAT	p.N38Y	DOCK7_uc001dap.2_Missense_Mutation_p.N38Y|DOCK7_uc009wah.1_Missense_Mutation_p.N38Y	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	38					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			ovary(2)	2						CCAACAATATTAAGGTTTTTGA	0.401													AC	63128729	TA	AC	63128728	3	1	183	1	0	0	0	0	1	0	0	0	4692	1754	61	5	6409	5	DOCK7	1	63128728	Missense_Mutation	DNP	TA	TCGA-CG-4476-01A-01D-1158-08	51066611	63128728	186121893	3	97054											
CTBS	1486	broad.mit.edu	37	chr1	85020805	85020805	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgccccgtaagcgataGttttgtatatatgttgcctt	8	9	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:85020805G>C	uc001dka.2	-	7	1100	c.1035C>G	c.(1033-1035)AAC>AAG	p.N345K	SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_Missense_Mutation_p.N254K|CTBS_uc001dkd.2_Missense_Mutation_p.N139K|CTBS_uc001dkb.2_Missense_Mutation_p.N139K	NM_004388	NP_004379	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl- precursor	345						lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GTAAGCGATAGTTTTGTATAT	0.383													C	85020805	G	C	85020805	3	2	183	1	0	0	0	0	1	0	0	0	3999	1020	36	5	126	5	CTBS	1	85020805	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	21892077	85020805	164229816	4	97055											
DPYD	1806	broad.mit.edu	37	chr1	98058818	98058818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaagccttttctgaagaCgatgaacacacggcgagctc	9	11	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:98058818C>T	uc001drv.2	-	10	1221	c.1084G>A	c.(1084-1086)GTC>ATC	p.V362I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	362					'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			ovary(3)|skin(3)|breast(2)	8		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)	TTTCTGAAGACGATGAACACA	0.463													T	98058818	C	T	98058818	3	4	183	1	0	0	0	0	1	0	0	0	4745	536	19	1	2049	1	DPYD	1	98058818	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	13038013	98058818	151191803	5	97056											
AMPD2	271	broad.mit.edu	37	chr1	110171967	110171967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggatggttttgacagcGtggatgatgagtccaagcct	15	6	0	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:110171967G>A	uc009wfh.1	+	15	2421	c.1879G>A	c.(1879-1881)GTG>ATG	p.V627M	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.V546M|AMPD2_uc001dyc.1_Missense_Mutation_p.V627M|AMPD2_uc010ovr.1_Missense_Mutation_p.V552M|AMPD2_uc001dyd.1_Missense_Mutation_p.V508M|AMPD2_uc001dye.1_Translation_Start_Site	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	627					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		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)		TTTTGACAGCGTGGATGATGA	0.587													A	110171967	G	A	110171967	3	1	183	1	0	0	0	0	1	0	0	0	586	1145	40	1	1974	1	AMPD2	1	110171967	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	12113149	110171967	139078654	6	97057											
MTMR11	10903	broad.mit.edu	37	chr1	149903217	149903217	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgccacccactctcGctgtactagtgattggaagc	9	14	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:149903217G>A	uc001etl.3	-	13	1476	c.1225C>T	c.(1225-1227)CGA>TGA	p.R409*	SF3B4_uc001etk.1_5'Flank|MTMR11_uc001etm.1_Nonsense_Mutation_p.R337*|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.A235V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	409	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	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)			ACCCACTCTCGCTGTACTAGT	0.577													A	149903217	G	A	149903217	4	1	183	1	0	0	0	0	0	1	0	0	9940	1095	38	1	963	1	MTMR11	1	149903217	Nonsense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	39731250	149903217	99347404	7	97058											
INSRR	3645	broad.mit.edu	37	chr1	156819226	156819226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagctgttgtaggttctggTtgtccagcacgtagagagtg	14	7	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:156819226T>C	uc010pht.1	-	6	1510	c.1256A>G	c.(1255-1257)AAC>AGC	p.N419S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	419					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			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGTTCTGGTTGTCCAGCAC	0.627													C	156819226	T	C	156819226	3	2	183	1	0	0	0	0	1	0	0	0	7774	1725	60	3	2704	3	INSRR	1	156819226	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	6916009	156819226	92431395	8	97059											
GORAB	92344	broad.mit.edu	37	chr1	170521254	170521254	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcactgaacacctttgtaCgatcatacagcaaaatgagc	6	11	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:170521254C>G	uc001gha.2	+	5	863	c.836C>G	c.(835-837)ACG>AGG	p.T279R	GORAB_uc009wvx.2_Missense_Mutation_p.T99R|GORAB_uc001ghb.2_Missense_Mutation_p.T99R|GORAB_uc001ghc.2_Missense_Mutation_p.T99R|GORAB_uc001ghd.2_Missense_Mutation_p.T72R	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	279	Necessary for interaction with RCHY1.|Potential.					Golgi apparatus|nucleus					0						CACCTTTGTACGATCATACAG	0.458													G	170521254	C	G	170521254	3	3	183	1	0	0	0	0	1	0	0	0	6574	536	19	5	858	5	GORAB	1	170521254	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	13702028	170521254	78729367	9	97060											
TNR	7143	broad.mit.edu	37	chr1	175372750	175372750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggatatagtccagttGtcctggaatggtcaaggaga	15	5	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:175372750G>T	uc001gkp.1	-	2	583	c.502C>A	c.(502-504)CAA>AAA	p.Q168K	TNR_uc009wwu.1_Missense_Mutation_p.Q168K|TNR_uc010pmz.1_Missense_Mutation_p.Q168K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	168	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TAGTCCAGTTGTCCTGGAATG	0.532													T	175372750	G	T	175372750	3	4	183	1	0	0	0	0	1	0	0	0	16335	1386	48	5	3654	5	TNR	1	175372750	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	4851496	175372750	73877871	10	97061											
FAM5C	339479	broad.mit.edu	37	chr1	190129876	190129876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtgtacaattttctgcGcctttaggaaaagttgtttc	9	7	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:190129876G>A	uc001gse.1	-	7	1338	c.1106C>T	c.(1105-1107)GCG>GTG	p.A369V	FAM5C_uc010pot.1_Missense_Mutation_p.A267V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	369						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					AATTTTCTGCGCCTTTAGGAA	0.398													A	190129876	G	A	190129876	3	1	183	1	0	0	0	0	1	0	0	0	5594	1087	38	1	1202	1	FAM5C	1	190129876	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	14757126	190129876	59120745	11	97062											
CRB1	23418	broad.mit.edu	37	chr1	197396612	197396612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagatttggccaggaTgactccactggttatgtcat	12	9	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:197396612T>C	uc001gtz.2	+	7	2292	c.2157T>C	c.(2155-2157)GAT>GAC	p.D719D	CRB1_uc010poz.1_Silent_p.D650D|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.D607D|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.D200D|CRB1_uc001gub.1_Silent_p.D368D	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	719	Extracellular (Potential).|Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TTGGCCAGGATGACTCCACTG	0.443													C	197396612	T	C	197396612	2	2	183	1	0	0	0	0	0	0	0	1	3848	1461	51	3		3	CRB1	1	197396612	Silent	SNP	T	TCGA-CG-4476-01A-01D-1158-08	7266736	197396612	51854009	12	97063											
KCTD3	51133	broad.mit.edu	37	chr1	215793886	215793886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacctggtactgcgtccCcatctcctacaaagactact	5	16	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr1:215793886C>T	uc001hks.2	+	18	2668	c.2374C>T	c.(2374-2376)CCA>TCA	p.P792S	KCTD3_uc001hkt.2_Missense_Mutation_p.P790S|KCTD3_uc010pub.1_Missense_Mutation_p.P690S|KCTD3_uc009xdn.2_Missense_Mutation_p.P516S	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	792						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TACTGCGTCCCCATCTCCTAC	0.448													T	215793886	C	T	215793886	3	4	183	1	0	0	0	0	1	0	0	0	8110	623	22	4	2444	4	KCTD3	1	215793886	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	18397274	215793886	33456735	13	97064											
BIRC6	57448	broad.mit.edu	37	chr2	32740737	32740740	+	Frame_Shift_Del	DEL	GACT	GACT	-													ttcttcagctgctacaacagGactgactactcaacagcgca							TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:32740736_32740739GGACT>G	uc010ezu.3	+	54	11382_11385	c.11248_11251GGACT>G	c.(11248-11253)ggactgfs	p.G3750fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3750					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)					TGCTACAACAGGACTGACTACTCA	0.441													-	32740740	GACT	-	32740737	7	5	183	1	0	1	0	1	0	0	0	0	1438	1174	41	0	11467	0	BIRC6	2	32740737	Frame_Shift_Del	DEL	GACT	TCGA-CG-4476-01A-01D-1158-08		32740737	210458636	14	97065											
HEATR5B	54497	broad.mit.edu	37	chr2	37229454	37229454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaataccgtaccagcgGgtgaacaaagggatggtaaa	12	7	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:37229454G>A	uc002rpp.1	-	32	5408	c.5312C>T	c.(5311-5313)CCC>CTC	p.P1771L	HEATR5B_uc002rpo.1_Missense_Mutation_p.P84L|HEATR5B_uc010ezy.1_Intron	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1771							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				CGTACCAGCGGGTGAACAAAG	0.413													A	37229454	G	A	37229454	3	1	183	1	0	0	0	0	1	0	0	0	7032	1232	43	4	923	4	HEATR5B	2	37229454	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	4488717	37229454	205969919	15	97066											
MSH6	2956	broad.mit.edu	37	chr2	48028272	48028273	+	Frame_Shift_Ins	INS	-	-	TGTAG													acaaggactggcagtctgctINSgtagagtgtatcgcagtgtt							TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:48028271_48028272C>CTGTAG	uc002rwd.4	+	3	3301_3302	c.3149_3150C>CTGTAG	c.(3148-3150)gctfs	p.A1050fs	MSH6_uc002rwc.2_Frame_Shift_Ins_p.A1050fs|MSH6_uc010fbj.3_Frame_Shift_Ins_p.A748fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.A748fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1050					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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)|p.S1049F(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)			TGGCAGTCTGCTGTAGAGTGTA	0.401			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				TGTAG	48028273	-	TGTAG	48028272	7	5	183	1	0	1	1	0	0	0	0	0	9874	1567	55	0	3164	0	MSH6	2	48028272	Frame_Shift_Ins	INS	-	TCGA-CG-4476-01A-01D-1158-08	10798818	48028272	195171101	16	97067											
NRXN1	9378	broad.mit.edu	37	chr2	51254932	51254932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccgcggcgcgcagttcCgggggcagccccccgacgaa	16	17	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:51254932C>T	uc010fbq.2	-	2	1957	c.480G>A	c.(478-480)CCG>CCA	p.P160P	NRXN1_uc002rxe.3_Silent_p.P160P|NRXN1_uc002rxd.1_Silent_p.P160P	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCGCAGTTCCGGGGGCAGCC	0.667													T	51254932	C	T	51254932	2	4	183	1	0	0	0	0	0	0	0	1	10665	639	23	1		1	NRXN1	2	51254932	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	3226660	51254932	191944441	17	97068											
DYSF	8291	broad.mit.edu	37	chr2	71886083	71886083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagttccaccagctggccGcccagggaccccaggagtgc	13	16	0	0	rs143163327		TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:71886083G>A	uc002sie.2	+	43	5090	c.4714G>A	c.(4714-4716)GCC>ACC	p.A1572T	DYSF_uc010feg.2_Missense_Mutation_p.A1603T|DYSF_uc010feh.2_Missense_Mutation_p.A1579T|DYSF_uc002sig.3_Missense_Mutation_p.A1558T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1593T|DYSF_uc010fef.2_Missense_Mutation_p.A1610T|DYSF_uc010fei.2_Missense_Mutation_p.A1589T|DYSF_uc010fek.2_Missense_Mutation_p.A1590T|DYSF_uc010fej.2_Missense_Mutation_p.A1580T|DYSF_uc010fel.2_Missense_Mutation_p.A1559T|DYSF_uc010feo.2_Missense_Mutation_p.A1604T|DYSF_uc010fem.2_Missense_Mutation_p.A1594T|DYSF_uc010fen.2_Missense_Mutation_p.A1611T|DYSF_uc002sif.2_Missense_Mutation_p.A1573T|DYSF_uc010yqy.1_Missense_Mutation_p.A453T|DYSF_uc010yqz.1_Missense_Mutation_p.A333T	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1572	Cytoplasmic (Potential).|C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCAGCTGGCCGCCCAGGGACC	0.547													A	71886083	G	A	71886083	3	1	183	1	0	0	0	0	1	0	0	0	4859	1087	38	1	5143	1	DYSF	2	71886083	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	20631151	71886083	171313290	18	97069											
SPR	6697	broad.mit.edu	37	chr2	73115443	73115443	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctaagggttggtttttcagGctctcttggggatgtgtcca	13	8	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:73115443G>C	uc002sik.2	+	2	355	c.305G>C	c.(304-306)GGC>GCC	p.G102A		NM_003124	NP_003115	P35270	SPRE_HUMAN	sepiapterin reductase	102					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			ovary(2)	2						GGTTTTTCAGGCTCTCTTGGG	0.532											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	73115443	G	C	73115443	3	2	183	1	0	0	0	0	1	0	0	0	15090	1217	42	5	311	5	SPR	2	73115443	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	1229360	73115443	170083930	19	97070											
SEMA4F	10505	broad.mit.edu	37	chr2	74889902	74889902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagacttgagagtggccGggggaaatgtccttttgagc	15	6	0	4			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:74889902G>A	uc002sna.1	+	5	611	c.500G>A	c.(499-501)CGG>CAG	p.R167Q	SEMA4F_uc010ysb.1_Intron|SEMA4F_uc010ffq.1_Missense_Mutation_p.R134Q|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_Intron|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	167	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GAGAGTGGCCGGGGGAAATGT	0.517													A	74889902	G	A	74889902	3	1	183	1	0	0	0	0	1	0	0	0	14035	1116	39	1	518	1	SEMA4F	2	74889902	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	1774459	74889902	168309471	20	97071											
NCAPH	23397	broad.mit.edu	37	chr2	97020058	97020058	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaacgatgaacctgaCcacaccgcagttggggatca	11	12	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:97020058C>A	uc002svz.1	+	9	1224	c.1140C>A	c.(1138-1140)GAC>GAA	p.D380E	NCAPH_uc010fhu.1_Missense_Mutation_p.D356E|NCAPH_uc010fhv.1_Missense_Mutation_p.D369E|NCAPH_uc010yum.1_Missense_Mutation_p.D356E|NCAPH_uc010fhw.1_Missense_Mutation_p.D369E|NCAPH_uc010yun.1_Missense_Mutation_p.D244E|NCAPH_uc002swa.1_5'UTR	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	380					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				ATGAACCTGACCACACCGCAG	0.527													A	97020058	C	A	97020058	3	1	183	1	0	0	0	0	1	0	0	0	10209	506	18	5	1174	5	NCAPH	2	97020058	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	22130156	97020058	146179315	21	97072											
PSD4	23550	broad.mit.edu	37	chr2	113940797	113940797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccctcttcctggcgagtcCttgctcagagaacagtgctt	9	15	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:113940797C>A	uc002tjc.2	+	2	947	c.764C>A	c.(763-765)CCT>CAT	p.P255H	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.P254H|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	255					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTGGCGAGTCCTTGCTCAGAG	0.602													A	113940797	C	A	113940797	3	1	183	1	0	0	0	0	1	0	0	0	12649	681	24	5	766	5	PSD4	2	113940797	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	16920739	113940797	129258576	22	97073											
C2orf76	130355	broad.mit.edu	37	chr2	120078733	120078733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaaaaatggttaccatAtttataatttctgaatggtg	6	3	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:120078733A>G	uc002tls.2	-	4	722	c.181T>C	c.(181-183)TAT>CAT	p.Y61H	C2orf76_uc010flf.1_Missense_Mutation_p.Y61H|C2orf76_uc010yyg.1_RNA|C2orf76_uc002tlt.2_Missense_Mutation_p.Y61H|C2orf76_uc002tlu.2_Missense_Mutation_p.Y61H	NM_001017927	NP_001017927	Q3KRA6	CB076_HUMAN	hypothetical protein LOC130355	61											0						tGGTTACCATATTTATAATTT	0.244													G	120078733	A	G	120078733	3	3	183	1	0	0	0	0	1	0	0	0	2193	449	16	3	215	3	C2orf76	2	120078733	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	6137936	120078733	123120640	23	97074											
THSD7B	80731	broad.mit.edu	37	chr2	138373815	138373815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgaactcaaggacttGtgctgaagactcacaggtgc	10	10	3	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:138373815G>A	uc002tva.1	+	17	3407	c.3407G>A	c.(3406-3408)TGT>TAT	p.C1136Y	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCAAGGACTTGTGCTGAAGAC	0.438													A	138373815	G	A	138373815	3	1	183	1	0	0	0	0	1	0	0	0	15877	1377	48	4	3472	4	THSD7B	2	138373815	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	18295082	138373815	104825558	24	97075											
LRP1B	53353	broad.mit.edu	37	chr2	141660534	141660534	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacatccagcttccaaccttCataacatgagcacttgactg	5	13	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:141660534C>G	uc002tvj.1	-	23	4693	c.3721G>C	c.(3721-3723)GAA>CAA	p.E1241Q	LRP1B_uc010fnl.1_Missense_Mutation_p.E423Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1241	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TTCCAACCTTCATAACATGAG	0.368										TSP Lung(27;0.18)			G	141660534	C	G	141660534	3	3	183	1	0	0	0	0	1	0	0	0	8955	835	29	5	10354	5	LRP1B	2	141660534	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	3286719	141660534	101538839	25	97076											
TTC21B	79809	broad.mit.edu	37	chr2	166755241	166755241	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatgaaacactgcttgttCatagtcttgttttctgaaca	6	7	3	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:166755241C>T	uc002udk.2	-	22	3038	c.2905G>A	c.(2905-2907)GAA>AAA	p.E969K		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	969	TPR 15.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						ACTGCTTGTTCATAGTCTTGT	0.313													T	166755241	C	T	166755241	3	4	183	1	0	0	0	0	1	0	0	0	16685	835	29	4	1077	4	TTC21B	2	166755241	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	25094707	166755241	76444132	26	97077											
SCN9A	6335	broad.mit.edu	37	chr2	167060651	167060651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctaccatcatggttaCcatgttgagacagataagaa	7	8	2	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:167060651C>T	uc010fpl.2	-	26	4896	c.4555G>A	c.(4555-4557)GTA>ATA	p.V1519I	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1530	IV.|Helical; Name=S1 of repeat IV; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCATGGTTACCATGTTGAGA	0.333													T	167060651	C	T	167060651	3	4	183	1	0	0	0	0	1	0	0	0	13925	507	18	4	1386	4	SCN9A	2	167060651	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	305410	167060651	76138722	27	97078											
MAP1D	254042	broad.mit.edu	37	chr2	172930411	172930411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcctatccctcacctctagGctatggaggttttccaaaat	7	12	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:172930411G>C	uc002uhk.2	+	4	501	c.428G>C	c.(427-429)GGC>GCC	p.G143A	MAP1D_uc010zdw.1_Missense_Mutation_p.G25A	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	143					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCACCTCTAGGCTATGGAGGT	0.373													C	172930411	G	C	172930411	3	2	183	1	0	0	0	0	1	0	0	0	9229	1203	42	5	442	5	MAP1D	2	172930411	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	5869760	172930411	70268962	28	97079											
TTN	7273	broad.mit.edu	37	chr2	179395550	179395550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgtctctgtgggtgaTacggctttcgggtgagaagg	17	5	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:179395550T>C	uc010zfg.1	-	307	98312	c.98088A>G	c.(98086-98088)GTA>GTG	p.V32696V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V26391V|TTN_uc010zfi.1_Silent_p.V26324V|TTN_uc010zfj.1_Silent_p.V26199V|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33623							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGGGTGATACGGCTTTCG	0.493													C	179395550	T	C	179395550	2	2	183	1	0	0	0	0	0	0	0	1	16732	1393	49	3		3	TTN	2	179395550	Silent	SNP	T	TCGA-CG-4476-01A-01D-1158-08	6465139	179395550	63803823	29	97080											
NUP35	129401	broad.mit.edu	37	chr2	184023068	184023068	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatctaaactgcaggctcggAaagccttaagcaaagatggg	11	8	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:184023068A>T	uc002upf.2	+	7	770	c.667A>T	c.(667-669)AAA>TAA	p.K223*	NUP35_uc010zfs.1_Nonsense_Mutation_p.K205*|NUP35_uc010zft.1_Nonsense_Mutation_p.K105*|NUP35_uc002upg.2_RNA	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	223	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0						GCAGGCTCGGAAAGCCTTAAG	0.338													T	184023068	A	T	184023068	4	4	183	1	0	0	0	0	0	1	0	0	10763	247	9	5	693	5	NUP35	2	184023068	Nonsense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	4627518	184023068	59176305	30	97081											
GLB1L	79411	broad.mit.edu	37	chr2	220102629	220102629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttggaccccagtttcccCgtcaaaaatagtttgtctct	7	11	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr2:220102629C>T	uc002vkm.2	-	15	1631	c.1392G>A	c.(1390-1392)ACG>ACA	p.T464T	GLB1L_uc002vkk.2_Silent_p.T221T|GLB1L_uc010zkx.1_Silent_p.T374T|GLB1L_uc002vkn.2_Silent_p.T464T	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like precursor	464					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds				0		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGTTTCCCCGTCAAAAATA	0.493													T	220102629	C	T	220102629	2	4	183	1	0	0	0	0	0	0	0	1	6428	639	23	1		1	GLB1L	2	220102629	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	36079561	220102629	23096744	31	97082											
IMPDH2	3615	broad.mit.edu	37	chr3	49065727	49065727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcaggtgtacagttgTggtggatgaagccaataccg	14	6	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr3:49065727T>C	uc003cvt.2	-	4	370	c.278A>G	c.(277-279)CAC>CGC	p.H93R		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	93					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				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)	TGTACAGTTGTGGTGGATGAA	0.488													C	49065727	T	C	49065727	3	2	183	1	0	0	0	0	1	0	0	0	7727	1696	59	3	1310	3	IMPDH2	3	49065727	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08		49065727	148956703	32	97083											
FEZF2	55079	broad.mit.edu	37	chr3	62357828	62357828	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgctccagcggcgccGgcaagcgctccttatgggga	14	14	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr3:62357828G>C	uc003dlh.2	-	1	923	c.716C>G	c.(715-717)CCG>CGG	p.P239R	FEZF2_uc003dli.2_Missense_Mutation_p.P239R	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	239					transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		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)		CAGCGGCGCCGGCAAGCGCTC	0.667													C	62357828	G	C	62357828	3	2	183	1	0	0	0	0	1	0	0	0	5826	1116	39	5	679	5	FEZF2	3	62357828	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	13292101	62357828	135664602	33	97084											
OR5K3	403277	broad.mit.edu	37	chr3	98110101	98110101	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccttatatcaatgaattgGtgttatttatcttggcagga	8	6	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr3:98110101G>C	uc011bgw.1	+	1	592	c.592G>C	c.(592-594)GTG>CTG	p.V198L		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAATGAATTGGTGTTATTTAT	0.308													C	98110101	G	C	98110101	3	2	183	1	0	0	0	0	1	0	0	0	11168	1261	44	5	594	5	OR5K3	3	98110101	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	35752273	98110101	99912329	34	97085											
C3orf15	89876	broad.mit.edu	37	chr3	119469891	119469891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagagcaagatgaggccTcaaatgctgccatgttactt	12	8	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr3:119469891T>C	uc003ede.3	+	17	2328	c.2251T>C	c.(2251-2253)TCA>CCA	p.S751P	C3orf15_uc010hqz.2_Missense_Mutation_p.S689P|C3orf15_uc011bjd.1_Missense_Mutation_p.S625P|C3orf15_uc011bje.1_Missense_Mutation_p.S731P|C3orf15_uc003edg.3_RNA|C3orf15_uc003edh.3_RNA	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	587						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AGATGAGGCCTCAAATGCTGC	0.418													C	119469891	T	C	119469891	3	2	183	1	0	0	0	0	1	0	0	0	2209	1551	54	3	2317	3	C3orf15	3	119469891	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	21359790	119469891	78552539	35	97086											
PLXND1	23129	broad.mit.edu	37	chr3	129286351	129286351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccttggggaagaaggtgCgggtcacgaagtgcttatac	15	7	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr3:129286351C>T	uc003emx.2	-	22	4170	c.4070G>A	c.(4069-4071)CGC>CAC	p.R1357H	PLXND1_uc011blb.1_Missense_Mutation_p.R25H	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1357	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GAAGAAGGTGCGGGTCACGAA	0.607													T	129286351	C	T	129286351	3	4	183	1	0	0	0	0	1	0	0	0	12127	768	27	1	1767	1	PLXND1	3	129286351	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	9816460	129286351	68736079	36	97087											
IGSF10	285313	broad.mit.edu	37	chr3	151155443	151155443	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatctgaaagcctcacAttcctaatttccaaggttcc	6	12	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr3:151155443A>T	uc011bod.1	-	6	6906	c.6906T>A	c.(6904-6906)AAT>AAA	p.N2302K	IGSF10_uc011bob.1_Missense_Mutation_p.N329K|IGSF10_uc011boc.1_Missense_Mutation_p.N281K	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2302	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAAGCCTCACATTCCTAATTT	0.438													T	151155443	A	T	151155443	3	4	183	1	0	0	0	0	1	0	0	0	7597	214	8	5	969	5	IGSF10	3	151155443	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	21869092	151155443	46866987	37	97088											
KLHL6	89857	broad.mit.edu	37	chr3	183211985	183211985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatcttatgcctccagCggcctatgtttaaatactca	5	14	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr3:183211985C>A	uc003flr.2	-	5	1290	c.1232G>T	c.(1231-1233)CGC>CTC	p.R411L	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	411	Kelch 2.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	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)			ATGCCTCCAGCGGCCTATGTT	0.438													A	183211985	C	A	183211985	3	1	183	1	0	0	0	0	1	0	0	0	8393	768	27	5	645	5	KLHL6	3	183211985	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	32056542	183211985	14810445	38	97089											
WFS1	7466	broad.mit.edu	37	chr4	6302687	6302687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcgcttcgagcccaacctgGatgtggagcaggccgaggtc	15	12	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr4:6302687G>A	uc003giy.2	+	8	1331	c.1165G>A	c.(1165-1167)GAT>AAT	p.D389N	WFS1_uc003gix.2_Missense_Mutation_p.D389N|WFS1_uc003giz.2_Missense_Mutation_p.D207N	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	389					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)	2				Colorectal(103;0.0512)		GCCCAACCTGGATGTGGAGCA	0.597													A	6302687	G	A	6302687	3	1	183	1	0	0	0	0	1	0	0	0	17357	1174	41	4	1191	4	WFS1	4	6302687	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08		6302687	184851589	39	97090											
AASDH	132949	broad.mit.edu	37	chr4	57204862	57204862	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctttcatgttacaacagtaGataaagcaatcatgggaacc	7	9	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr4:57204862G>T	uc003hbn.2	-	15	3156	c.3003C>A	c.(3001-3003)ATC>ATA	p.I1001I	AASDH_uc010ihb.2_Silent_p.I516I|AASDH_uc011caa.1_3'UTR|AASDH_uc003hbo.2_Silent_p.I901I|AASDH_uc011cab.1_Silent_p.I516I|AASDH_uc010ihc.2_3'UTR	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1001					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TACAACAGTAGATAAAGCAAT	0.408													T	57204862	G	T	57204862	2	4	183	1	0	0	0	0	0	0	0	1	22	932	33	5		5	AASDH	4	57204862	Silent	SNP	G	TCGA-CG-4476-01A-01D-1158-08	50902175	57204862	133949414	40	97091											
BANK1	55024	broad.mit.edu	37	chr4	102751290	102751290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattactaaatatctctcaAagcagatgggagatctcaac	7	8	3	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr4:102751290A>G	uc003hvy.3	+	2	670	c.396A>G	c.(394-396)CAA>CAG	p.Q132Q	BANK1_uc003hvx.3_Silent_p.Q117Q|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Silent_p.Q102Q	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	132	Interaction with ITPR2.				B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATATCTCTCAAAGCAGATGGG	0.368													G	102751290	A	G	102751290	2	3	183	1	0	0	0	0	0	0	0	1	1309	11	1	3		3	BANK1	4	102751290	Silent	SNP	A	TCGA-CG-4476-01A-01D-1158-08	45546428	102751290	88402986	41	97092											
BANK1	55024	broad.mit.edu	37	chr4	102984241	102984241	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacattaaggagaaattaCgacaactacgagactgcatt	7	9	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr4:102984241C>T	uc003hvy.3	+	13	2432	c.2158C>T	c.(2158-2160)CGA>TGA	p.R720*	BANK1_uc003hvx.3_Nonsense_Mutation_p.R705*|BANK1_uc010ill.2_Nonsense_Mutation_p.R587*|BANK1_uc003hvz.3_Nonsense_Mutation_p.R690*	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	720					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGAGAAATTACGACAACTACG	0.308													T	102984241	C	T	102984241	4	4	183	1	0	0	0	0	0	1	0	0	1309	528	19	1	2208	1	BANK1	4	102984241	Nonsense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	232951	102984241	88170035	42	97093											
AIMP1	9255	broad.mit.edu	37	chr4	107252898	107252898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccaatagatgtttcccGtctggatcttcgaattggtt	9	8	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr4:107252898G>A	uc011cfg.1	+	5	513	c.461G>A	c.(460-462)CGT>CAT	p.R154H	AIMP1_uc003hyg.2_Missense_Mutation_p.R154H|AIMP1_uc003hyh.2_Missense_Mutation_p.R178H	NM_001142415	NP_001135887	Q12904	AIMP1_HUMAN	small inducible cytokine subfamily E, member 1	154	tRNA-binding.|Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding				0						GATGTTTCCCGTCTGGATCTT	0.408													A	107252898	G	A	107252898	3	1	183	1	0	0	0	0	1	0	0	0	433	1145	40	1	551	1	AIMP1	4	107252898	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	4268657	107252898	83901378	43	97094											
FAT4	79633	broad.mit.edu	37	chr4	126336957	126336957	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactacccagaacaattcTtcaggtcagtatatttaaat	5	9	3	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr4:126336957T>G	uc003ifj.3	+	5	6839	c.6839T>G	c.(6838-6840)CTT>CGT	p.L2280R	FAT4_uc011cgp.1_Missense_Mutation_p.L578R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2280	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGAACAATTCTTCAGGTCAGT	0.358													G	126336957	T	G	126336957	3	3	183	1	0	0	0	0	1	0	0	0	5692	1609	56	5	6857	5	FAT4	4	126336957	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	19084059	126336957	64817319	44	97095											
ACCN5	51802	broad.mit.edu	37	chr4	156775288	156775288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgctattgttgagatAaaaacctttgttcctgataa	7	6	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr4:156775288A>G	uc003ipe.1	-	3	573	c.526T>C	c.(526-528)TAT>CAT	p.Y176H		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	176	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		TTGTTGAGATAAAAACCTTTG	0.363													G	156775288	A	G	156775288	3	3	183	1	0	0	0	0	1	0	0	0	132	362	13	3	1023	3	ACCN5	4	156775288	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	30438331	156775288	34378988	45	97096											
FGF10	2255	broad.mit.edu	37	chr5	44388473	44388473	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacttactgtacgggcagttCtccttcttggtcccgctgac	9	13	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:44388473C>T	uc003jog.1	-	1	312	c.312G>A	c.(310-312)GAG>GAA	p.E104E		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	104					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					ACGGGCAGTTCTCCTTCTTGG	0.507													T	44388473	C	T	44388473	2	4	183	1	0	0	0	0	0	0	0	1	5839	912	32	4		4	FGF10	5	44388473	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08		44388473	136526787	46	97097											
HCN1	348980	broad.mit.edu	37	chr5	45353212	45353212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatcttacctctctcagaGgatcattgagttcattgaga	7	8	5	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:45353212G>A	uc003jok.2	-	5	1392	c.1367C>T	c.(1366-1368)CCT>CTT	p.P456L		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	456	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTCTCTCAGAGGATCATTGAG	0.343													A	45353212	G	A	45353212	3	1	183	1	0	0	0	0	1	0	0	0	6996	1000	35	4	1321	4	HCN1	5	45353212	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	964739	45353212	135562048	47	97098											
MAP1B	4131	broad.mit.edu	37	chr5	71495024	71495024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattattgagaagaccacaCggacccctgaagagggtggg	13	8	0	4	rs151255965		TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:71495024C>T	uc003kbw.3	+	5	6083	c.5842C>T	c.(5842-5844)CGG>TGG	p.R1948W	MAP1B_uc010iyw.1_Missense_Mutation_p.R1965W|MAP1B_uc010iyx.1_Missense_Mutation_p.R1822W|MAP1B_uc010iyy.1_Missense_Mutation_p.R1822W	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1948	MAP1B 5.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		GAAGACCACACGGACCCCTGA	0.473													T	71495024	C	T	71495024	3	4	183	1	0	0	0	0	1	0	0	0	9228	527	19	1	5860	1	MAP1B	5	71495024	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	26141812	71495024	109420236	48	97099											
THBS4	7060	broad.mit.edu	37	chr5	79378239	79378239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccgcagggtacgatttTatgaaggctctgagttggtg	14	6	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:79378239T>C	uc003kgh.2	+	22	3018	c.2695T>C	c.(2695-2697)TAT>CAT	p.Y899H	uc003kgi.3_RNA	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	899	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGTACGATTTTATGAAGGCTC	0.557													C	79378239	T	C	79378239	3	2	183	1	0	0	0	0	1	0	0	0	15853	1754	61	3	2777	3	THBS4	5	79378239	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	7883215	79378239	101537021	49	97100											
APC	324	broad.mit.edu	37	chr5	112174682	112174682	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtaagccagtctttgtgtCaagaagatgactatgaagat	10	5	2	5			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:112174682C>T	uc010jby.2	+	16	3771	c.3391C>T	c.(3391-3393)CAA>TAA	p.Q1131*	APC_uc011cvt.1_Nonsense_Mutation_p.Q1113*|APC_uc003kpz.3_Nonsense_Mutation_p.Q1131*|APC_uc003kpy.3_Nonsense_Mutation_p.Q1131*|APC_uc010jbz.2_Nonsense_Mutation_p.Q848*|APC_uc010jca.2_Nonsense_Mutation_p.Q431*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1131	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.|Asp/Glu-rich (acidic).				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.Q1131*(2)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		GTCTTTGTGTCAAGAAGATGA	0.383		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112174682	C	T	112174682	4	4	183	1	0	0	0	0	0	1	0	0	763	827	29	4	3449	4	APC	5	112174682	Nonsense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	32796443	112174682	68740578	50	97101											
APC	324	broad.mit.edu	37	chr5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaacagctcaaaccaagCgagaagtacctaaaaataaa	5	10	2	1	rs121913332		TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:112175639C>T	uc010jby.2	+	16	4728	c.4348C>T	c.(4348-4350)CGA>TGA	p.R1450*	APC_uc011cvt.1_Nonsense_Mutation_p.R1432*|APC_uc003kpz.3_Nonsense_Mutation_p.R1450*|APC_uc003kpy.3_Nonsense_Mutation_p.R1450*|APC_uc010jbz.2_Nonsense_Mutation_p.R1167*|APC_uc010jca.2_Nonsense_Mutation_p.R750*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1450	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.R1450*(115)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(SW837_LARGE_INTESTINE)|R1450*(LS123_LARGE_INTESTINE)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)	12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112175639	C	T	112175639	4	4	183	1	0	0	0	0	0	1	0	0	763	760	27	1	4406	1	APC	5	112175639	Nonsense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	957	112175639	68739621	51	97102											
PCDHB2	56133	broad.mit.edu	37	chr5	140476413	140476413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcccggaggcggcacCggcccaggcccaggccgact	15	18	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:140476413C>T	uc003lil.2	+	1	2177	c.2039C>T	c.(2038-2040)CCG>CTG	p.P680L	PCDHB2_uc003lim.1_Missense_Mutation_p.P341L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	680	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCACCGGCCCAGGCC	0.687													T	140476413	C	T	140476413	3	4	183	1	0	0	0	0	1	0	0	0	11542	652	23	1	2041	1	PCDHB2	5	140476413	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	28300774	140476413	40438847	52	97103											
PCDHB11	56125	broad.mit.edu	37	chr5	140580481	140580481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatagactctggggacaaCggaagaattgtttgttccat	11	6	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:140580481C>T	uc003liy.2	+	1	1134	c.1134C>T	c.(1132-1134)AAC>AAT	p.N378N	PCDHB11_uc011daj.1_Silent_p.N13N	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	378	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGGGACAACGGAAGAATTG	0.433													T	140580481	C	T	140580481	2	4	183	1	0	0	0	0	0	0	0	1	11536	535	19	1		1	PCDHB11	5	140580481	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	104068	140580481	40334779	53	97104											
HDAC3	8841	broad.mit.edu	37	chr5	141016342	141016342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggggtcgtagaaataggCcacggtcttggccatggtgc	16	9	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:141016342C>T	uc003llf.2	-	1	82	c.16G>A	c.(16-18)GCC>ACC	p.A6T	HDAC3_uc003lle.1_5'Flank|HDAC3_uc010jgd.1_Missense_Mutation_p.A6T|HDAC3_uc010jge.1_RNA|RELL2_uc003lli.2_5'Flank|RELL2_uc003llh.2_5'Flank|RELL2_uc003llg.2_5'Flank|RELL2_uc010jgf.2_5'Flank	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	6	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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TAGAAATAGGCCACGGTCTTG	0.483													T	141016342	C	T	141016342	3	4	183	1	0	0	0	0	1	0	0	0	7008	739	26	2	1330	2	HDAC3	5	141016342	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	435861	141016342	39898918	54	97105											
NR3C1	2908	broad.mit.edu	37	chr5	142661488	142661488	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acagaagttttttgatatttCcatttgaatattttggtatc	6	4	0	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr5:142661488C>G	uc003lmz.2	-	9	2792	c.2300G>C	c.(2299-2301)GGA>GCA	p.G767A	NR3C1_uc003lmy.2_Missense_Mutation_p.G768A|NR3C1_uc003lna.2_Intron|NR3C1_uc003lnb.2_Missense_Mutation_p.G767A|NR3C1_uc011dbk.1_Missense_Mutation_p.G370A|NR3C1_uc003lnc.2_Missense_Mutation_p.G767A|NR3C1_uc003lnd.2_Missense_Mutation_p.G767A|NR3C1_uc003lne.2_Missense_Mutation_p.G767A|NR3C1_uc003lnf.2_Missense_Mutation_p.G768A	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	767	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			ovary(2)	2		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)	TTTGATATTTCCATTTGAATA	0.308													G	142661488	C	G	142661488	3	3	183	1	0	0	0	0	1	0	0	0	10630	855	30	5	89	5	NR3C1	5	142661488	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	1645146	142661488	38253772	55	97106											
SLC22A23	63027	broad.mit.edu	37	chr6	3324180	3324180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggcccgccatggccaCgaagctcgccaccatcgtaa	10	16	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:3324180C>T	uc003mvm.3	-	4	970	c.970G>A	c.(970-972)GTG>ATG	p.V324M	SLC22A23_uc003mvn.3_Missense_Mutation_p.V43M|SLC22A23_uc003mvo.3_Missense_Mutation_p.V43M|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.V324M|SLC22A23_uc010jno.2_Missense_Mutation_p.V324M	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	324	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GCCATGGCCACGAAGCTCGCC	0.592													T	3324180	C	T	3324180	3	4	183	1	0	0	0	0	1	0	0	0	14452	536	19	1	1118	1	SLC22A23	6	3324180	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		3324180	167790887	56	97107											
HIST1H2AJ	8331	broad.mit.edu	37	chr6	27782460	27782460	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaactgaagcccggcccgaGaagagcgggtcttggccttg	15	11	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:27782460G>T	uc003njn.1	-	1	59	c.59C>A	c.(58-60)TCT>TAT	p.S20Y	HIST1H2BM_uc003njo.2_5'Flank	NM_021066	NP_066544	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	20					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCCGGCCCGAGAAGAGCGGGT	0.602													T	27782460	G	T	27782460	3	4	183	1	0	0	0	0	1	0	0	0	7136	942	33	5	331	5	HIST1H2AJ	6	27782460	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	24458280	27782460	143332607	57	97108											
TCF19	6941	broad.mit.edu	37	chr6	31130473	31130473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttccgatgcccagggtgCcgggctggcattcagaccta	13	13	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:31130473C>T	uc003nss.2	+	4	1541	c.1017C>T	c.(1015-1017)TGC>TGT	p.C339C	TCF19_uc003nst.2_Silent_p.C339C	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	339	PHD-type.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCCCAGGGTGCCGGGCTGGCA	0.592													T	31130473	C	T	31130473	2	4	183	1	0	0	0	0	0	0	0	1	15686	747	26	2		2	TCF19	6	31130473	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	3348013	31130473	139984594	58	97109											
PI16	221476	broad.mit.edu	37	chr6	36929321	36929321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacatcgaattactggtgtGcaactatgagcctccgtgag	10	10	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:36929321G>T	uc003ona.2	+	3	816	c.488G>T	c.(487-489)TGC>TTC	p.C163F	PI16_uc003omz.1_Missense_Mutation_p.C163F|PI16_uc003onb.2_Missense_Mutation_p.C163F|PI16_uc011dts.1_5'UTR	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	163	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						TTACTGGTGTGCAACTATGAG	0.597													T	36929321	G	T	36929321	3	4	183	1	0	0	0	0	1	0	0	0	11869	1319	46	5	498	5	PI16	6	36929321	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	5798848	36929321	134185746	59	97110											
EYS	346007	broad.mit.edu	37	chr6	66204978	66204978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacacagccaacgaaagatGtttcagaaacattcatcaaa	6	10	3	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:66204978G>A	uc011dxu.1	-	4	864	c.326C>T	c.(325-327)ACA>ATA	p.T109I	EYS_uc003peq.2_Missense_Mutation_p.T109I|EYS_uc003per.1_Missense_Mutation_p.T109I|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	109					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AACGAAAGATGTTTCAGAAAC	0.363													A	66204978	G	A	66204978	3	1	183	1	0	0	0	0	1	0	0	0	5332	1377	48	4	9230	4	EYS	6	66204978	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	29275657	66204978	104910089	60	97111											
COL12A1	1303	broad.mit.edu	37	chr6	75861908	75861908	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcaacaagctcttcttGtctctgtgtgcatttaactg	8	10	3	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:75861908G>C	uc003phs.2	-	19	3940	c.3774C>G	c.(3772-3774)GAC>GAG	p.D1258E	COL12A1_uc003pht.2_Missense_Mutation_p.D94E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1258	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AGCTCTTCTTGTCTCTGTGTG	0.463													C	75861908	G	C	75861908	3	2	183	1	0	0	0	0	1	0	0	0	3669	1368	48	5	5609	5	COL12A1	6	75861908	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	9656930	75861908	95253159	61	97112											
IBTK	25998	broad.mit.edu	37	chr6	82925890	82925890	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggtaagtttctcaagtcGaattctttcatacacactat	5	8	3	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:82925890G>A	uc003pjl.1	-	11	2031	c.1504C>T	c.(1504-1506)CGA>TGA	p.R502*	IBTK_uc011dyv.1_Nonsense_Mutation_p.R502*|IBTK_uc011dyw.1_Nonsense_Mutation_p.R502*|IBTK_uc010kbi.1_Nonsense_Mutation_p.R196*|IBTK_uc003pjm.2_Nonsense_Mutation_p.R502*	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	502					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		TTCTCAAGTCGAATTCTTTCA	0.358													A	82925890	G	A	82925890	4	1	183	1	0	0	0	0	0	1	0	0	7476	1066	37	1	2633	1	IBTK	6	82925890	Nonsense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	7063982	82925890	88189177	62	97113											
TBX18	9096	broad.mit.edu	37	chr6	85446858	85446858	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctcacgcccacatAggagggagtcctgggcgggg	17	12	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr6:85446858A>T	uc003pkl.1	-	8	1369	c.1369T>A	c.(1369-1371)TAT>AAT	p.Y457N	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	457					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		ACGCCCACATAGGAGGGAGTC	0.582													T	85446858	A	T	85446858	3	4	183	1	0	0	0	0	1	0	0	0	15650	420	15	5	458	5	TBX18	6	85446858	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	2520968	85446858	85668209	63	97114											
SDK1	221935	broad.mit.edu	37	chr7	4056825	4056825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcctggctggccttcccGgagagtaccagcagcggaac	13	15	0	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:4056825G>A	uc003smx.2	+	17	2582	c.2443G>A	c.(2443-2445)GGA>AGA	p.G815R	SDK1_uc010kso.2_Missense_Mutation_p.G91R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	815	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		TGGCCTTCCCGGAGAGTACCA	0.572													A	4056825	G	A	4056825	3	1	183	1	0	0	0	0	1	0	0	0	13968	1117	39	1	2509	1	SDK1	7	4056825	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08		4056825	155081838	64	97115											
FAM126A	84668	broad.mit.edu	37	chr7	23000007	23000007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatttcatgggaccatgagGcaatgaagcctttattgcat	10	7	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:23000007G>A	uc003svm.3	-	10	1114	c.859C>T	c.(859-861)CCT>TCT	p.P287S	FAM126A_uc003svn.3_Missense_Mutation_p.P143S	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	287						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						GGACCATGAGGCAATGAAGCC	0.358													A	23000007	G	A	23000007	3	1	183	1	0	0	0	0	1	0	0	0	5429	1203	42	2	714	2	FAM126A	7	23000007	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	18943182	23000007	136138656	65	97116											
BMPER	168667	broad.mit.edu	37	chr7	33946429	33946429	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcccccctgaatttcaGgttctgttgcaaaatgtgaa	7	9	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:33946429G>A	uc011kap.1	+	2	248	c.134_splice	c.e2-1	p.G45_splice		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor						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				ovary(2)|central_nervous_system(1)	3						CTGAATTTCAGGTTCTGTTGC	0.363													A	33946429	G	A	33946429	5	1	183	1	0	0	0	0	0	0	1	0	1468	1014	35	4	139	4	BMPER	7	33946429	Splice_Site	SNP	G	TCGA-CG-4476-01A-01D-1158-08	10946422	33946429	125192234	66	97117											
PSPH	5723	broad.mit.edu	37	chr7	56087384	56087384	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagggctaagcgctctgtgaGagcagctttgaaaggcactg	15	8	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:56087384G>C	uc003trg.2	-	4	547	c.184C>G	c.(184-186)CTC>GTC	p.L62V	PSPH_uc003trh.2_Missense_Mutation_p.L62V|PSPH_uc003tri.2_Missense_Mutation_p.L62V|PSPH_uc003trj.2_Missense_Mutation_p.L91V	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	62					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGCTCTGTGAGAGCAGCTTTG	0.602													C	56087384	G	C	56087384	3	2	183	1	0	0	0	0	1	0	0	0	12717	942	33	5	509	5	PSPH	7	56087384	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	22140955	56087384	103051279	67	97118											
MAGI2	9863	broad.mit.edu	37	chr7	77755084	77755084	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acaaatccattttgtattccCttcctccacgaatgctgaat	4	12	0	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:77755084C>G	uc003ugx.2	-	20	3748	c.3494G>C	c.(3493-3495)AGG>ACG	p.R1165T	MAGI2_uc003ugy.2_Missense_Mutation_p.R1151T|MAGI2_uc010ldx.1_Missense_Mutation_p.R758T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1165	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTGTATTCCCTTCCTCCACG	0.403													G	77755084	C	G	77755084	3	3	183	1	0	0	0	0	1	0	0	0	9191	681	24	5	885	5	MAGI2	7	77755084	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	21667700	77755084	81383579	68	97119											
SEMA3D	223117	broad.mit.edu	37	chr7	84671599	84671599	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgttgtcctcctacatcAttctgacatgaaaaaaaaaa	5	10	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:84671599A>T	uc003uic.2	-	8	904	c.864T>A	c.(862-864)AAT>AAA	p.N288K	SEMA3D_uc010led.2_Missense_Mutation_p.N288K|SEMA3D_uc003uib.2_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	288	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CTCCTACATCATTCTGACATG	0.373													T	84671599	A	T	84671599	3	4	183	1	0	0	0	0	1	0	0	0	14027	214	8	5	1509	5	SEMA3D	7	84671599	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	6916515	84671599	74467064	69	97120											
FSCN3	29999	broad.mit.edu	37	chr7	127238559	127238559	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcttccgaatgcactggaActgtggcaggatcatcctgc	11	11	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:127238559A>T	uc003vmd.1	+	4	1250	c.1031A>T	c.(1030-1032)AAC>ATC	p.N344I	FSCN3_uc011koh.1_Missense_Mutation_p.N210I|FSCN3_uc010llc.1_Missense_Mutation_p.N344I	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	344						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						ATGCACTGGAACTGTGGCAGG	0.577													T	127238559	A	T	127238559	3	4	183	1	0	0	0	0	1	0	0	0	6069	43	2	5	1045	5	FSCN3	7	127238559	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	42566960	127238559	31900104	70	97121											
PARP12	64761	broad.mit.edu	37	chr7	139737608	139737608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagtaggccaggtaggCcttctccacgtcgctactgc	11	13	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:139737608C>T	uc003vvl.1	-	7	2105	c.1231G>A	c.(1231-1233)GCC>ACC	p.A411T	PARP12_uc003vvk.1_Missense_Mutation_p.A197T|PARP12_uc010lnf.1_Intron	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	411	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					GCCAGGTAGGCCTTCTCCACG	0.552													T	139737608	C	T	139737608	3	4	183	1	0	0	0	0	1	0	0	0	11457	739	26	2	898	2	PARP12	7	139737608	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	12499049	139737608	19401055	71	97122											
ZNF777	27153	broad.mit.edu	37	chr7	149148160	149148160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggtgggccgctccccGcgctccatctgtgacatgag	13	14	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr7:149148160G>A	uc003wfv.2	-	4	1180	c.1017C>T	c.(1015-1017)CGC>CGT	p.R339R		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	339	Glu-rich.|KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCTCCCCGCGCTCCATCT	0.542													A	149148160	G	A	149148160	2	1	183	1	0	0	0	0	0	0	0	1	18147	1074	38	1		1	ZNF777	7	149148160	Silent	SNP	G	TCGA-CG-4476-01A-01D-1158-08	9410552	149148160	9990503	72	97123											
KCNU1	157855	broad.mit.edu	37	chr8	36675180	36675180	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcctaggtttattgtggtCtgtggaaacatcactgtgga	12	7	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr8:36675180C>T	uc010lvw.2	+	10	1095	c.1008C>T	c.(1006-1008)GTC>GTT	p.V336V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	336	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTATTGTGGTCTGTGGAAACA	0.453													T	36675180	C	T	36675180	2	4	183	1	0	0	0	0	0	0	0	1	8093	900	32	4		4	KCNU1	8	36675180	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08		36675180	109688842	73	97124											
PRKDC	5591	broad.mit.edu	37	chr8	48824975	48824975	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcaaagcccttacctgatCaacatcacacgcaagtcgaa	5	13	3	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr8:48824975C>T	uc003xqi.2	-	25	2986	c.2929G>A	c.(2929-2931)GAT>AAT	p.D977N	PRKDC_uc003xqj.2_Missense_Mutation_p.D977N|PRKDC_uc011ldh.1_Missense_Mutation_p.D977N	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	977					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTACCTGATCAACATCACAC	0.423								NHEJ					T	48824975	C	T	48824975	3	4	183	1	0	0	0	0	1	0	0	0	12521	826	29	4	9704	4	PRKDC	8	48824975	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	12149795	48824975	97539047	74	97125											
EYA1	2138	broad.mit.edu	37	chr8	72123457	72123457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaccacttttcttccaaaCctttgaattattctctcaaa	1	12	3	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr8:72123457C>A	uc003xys.3	-	16	1919	c.1632G>T	c.(1630-1632)AGG>AGT	p.R544S	EYA1_uc003xyr.3_Missense_Mutation_p.R509S|EYA1_uc003xyt.3_Missense_Mutation_p.R511S|EYA1_uc010lzf.2_Missense_Mutation_p.R471S|EYA1_uc003xyu.2_Missense_Mutation_p.R544S|EYA1_uc011lfe.1_Missense_Mutation_p.R538S|EYA1_uc003xyv.2_Missense_Mutation_p.R422S	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	544					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			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCAAACCTTTGAATTA	0.358													A	72123457	C	A	72123457	3	1	183	1	0	0	0	0	1	0	0	0	5328	506	18	5	154	5	EYA1	8	72123457	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	23298482	72123457	74240565	75	97126											
ZFHX4	79776	broad.mit.edu	37	chr8	77616929	77616929	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	catatcgcttcatccctcggGaaaccatttacagccgatca	6	14	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr8:77616929G>C	uc003yav.2	+	2	993	c.606G>C	c.(604-606)GGG>GGC	p.G202G	ZFHX4_uc003yat.1_Silent_p.G202G|ZFHX4_uc003yau.1_Silent_p.G202G|ZFHX4_uc003yaw.1_Silent_p.G202G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCCCTCGGGAAACCATTTA	0.488										HNSCC(33;0.089)			C	77616929	G	C	77616929	2	2	183	1	0	0	0	0	0	0	0	1	17632	1161	41	5		5	ZFHX4	8	77616929	Silent	SNP	G	TCGA-CG-4476-01A-01D-1158-08	5493472	77616929	68747093	76	97127											
EBAG9	9166	broad.mit.edu	37	chr8	110576743	110576743	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggaaaaggaagcacaacgGctaatgaagaaggaacaaaa	11	5	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr8:110576743G>T	uc003ynf.2	+	7	832	c.597G>T	c.(595-597)CGG>CGT	p.R199R	EBAG9_uc003yng.2_Silent_p.R199R	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	199	Cytoplasmic (Potential).|Potential.				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AAGCACAACGGCTAATGAAGA	0.378													T	110576743	G	T	110576743	2	4	183	1	0	0	0	0	0	0	0	1	4879	1190	42	5		5	EBAG9	8	110576743	Silent	SNP	G	TCGA-CG-4476-01A-01D-1158-08	32959814	110576743	35787279	77	97128											
TLN1	7094	broad.mit.edu	37	chr9	35711653	35711653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgaagtcctgtccaaatCggcctgaggctcgagccagg	13	12	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr9:35711653C>T	uc003zxt.2	-	29	4172	c.3818G>A	c.(3817-3819)CGA>CAA	p.R1273Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1273					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTCCAAATCGGCCTGAGGC	0.602													T	35711653	C	T	35711653	3	4	183	1	0	0	0	0	1	0	0	0	15944	884	31	1	3923	1	TLN1	9	35711653	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		35711653	105501778	78	97129											
SVIL	6840	broad.mit.edu	37	chr10	29769635	29769635	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtccttccaccaggccAtagccacggccgacgttcac	9	17	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr10:29769635A>T	uc001iut.1	-	29	5961	c.5208T>A	c.(5206-5208)TAT>TAA	p.Y1736*	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Nonsense_Mutation_p.Y650*|SVIL_uc001iuu.1_Nonsense_Mutation_p.Y1310*|SVIL_uc009xlc.2_Nonsense_Mutation_p.Y528*	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1736					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CCACCAGGCCATAGCCACGGC	0.577													T	29769635	A	T	29769635	4	4	183	1	0	0	0	0	0	1	0	0	15418	224	8	5	1476	5	SVIL	10	29769635	Nonsense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08		29769635	105765112	79	97130											
GDF2	2658	broad.mit.edu	37	chr10	48414362	48414362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacatcataaatgaccacgCttcctttcaggtcatgagag	8	10	3	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr10:48414362C>A	uc001jfa.1	-	2	669	c.506G>T	c.(505-507)AGC>ATC	p.S169I		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	169					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			ovary(2)|skin(1)	3						AATGACCACGCTTCCTTTCAG	0.512													A	48414362	C	A	48414362	3	1	183	1	0	0	0	0	1	0	0	0	6314	797	28	5	787	5	GDF2	10	48414362	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	18644727	48414362	87120385	80	97131											
USP54	159195	broad.mit.edu	37	chr10	75289589	75289589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtgctgggccccagcGcttgtactgggggcttggtc	17	12	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr10:75289589G>A	uc001juo.2	-	13	1926	c.1909C>T	c.(1909-1911)CGC>TGC	p.R637C	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.R637C|USP54_uc010qkl.1_Missense_Mutation_p.R637C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	637					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GGGCCCCAGCGCTTGTACTGG	0.502											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75289589	G	A	75289589	3	1	183	1	0	0	0	0	1	0	0	0	17082	1087	38	1	3185	1	USP54	10	75289589	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	26875227	75289589	60245158	81	97132											
NUP160	23279	broad.mit.edu	37	chr11	47814468	47814468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaacttctctgccaagcCgcattccatactcaaacatc	4	15	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr11:47814468C>A	uc001ngm.2	-	28	3405	c.3320G>T	c.(3319-3321)CGG>CTG	p.R1107L	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1107					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			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TCTGCCAAGCCGCATTCCATA	0.363													A	47814468	C	A	47814468	3	1	183	1	0	0	0	0	1	0	0	0	10757	652	23	5	1026	5	NUP160	11	47814468	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		47814468	87192048	82	97133											
MS4A14	84689	broad.mit.edu	37	chr11	60184013	60184013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagatcagcaaagcaaaggCtggcaatctccaaagcagaa	9	9	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr11:60184013C>T	uc001npj.2	+	5	2137	c.1572C>T	c.(1570-1572)GGC>GGT	p.G524G	MS4A14_uc001npi.2_Silent_p.G412G|MS4A14_uc001npn.2_Silent_p.G262G|MS4A14_uc001npk.2_Silent_p.G507G|MS4A14_uc001npl.2_Silent_p.G262G|MS4A14_uc001npm.2_Silent_p.G262G	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	524	Gln-rich.					integral to membrane	receptor activity			breast(1)	1						AAAGCAAAGGCTGGCAATCTC	0.433													T	60184013	C	T	60184013	2	4	183	1	0	0	0	0	0	0	0	1	9858	784	28	2		2	MS4A14	11	60184013	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	12369545	60184013	74822503	83	97134											
SART1	9092	broad.mit.edu	37	chr11	65743976	65743976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtccgagttctgccgCaccttgggggagatccccac	12	16	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr11:65743976C>T	uc001ogl.2	+	13	1775	c.1683C>T	c.(1681-1683)CGC>CGT	p.R561R		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	561					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				ovary(1)	1						AGTTCTGCCGCACCTTGGGGG	0.672													T	65743976	C	T	65743976	2	4	183	1	0	0	0	0	0	0	0	1	13846	697	25	2		2	SART1	11	65743976	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	5559963	65743976	69262540	84	97135											
PAK1	5058	broad.mit.edu	37	chr11	77066712	77066712	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagctacaaattccttaCgtaatttctccaagatctcc	4	11	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr11:77066712C>T	uc001oyh.3	-	7	1305	c.772_splice	c.e7+1	p.R258_splice	PAK1_uc010rso.1_Splice_Site_p.R160_splice|PAK1_uc001oyg.3_Splice_Site_p.R258_splice|PAK1_uc001oyi.1_Splice_Site_p.R258_splice|PAK1_uc010rsn.1_Intron	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2						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			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					AAATTCCTTACGTAATTTCTC	0.448													T	77066712	C	T	77066712	5	4	183	1	0	0	0	0	0	0	1	0	11399	550	19	1	953	1	PAK1	11	77066712	Splice_Site	SNP	C	TCGA-CG-4476-01A-01D-1158-08	11322736	77066712	57939804	85	97136											
FZD4	8322	broad.mit.edu	37	chr11	86663042	86663042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaaatatgatggggcgCtcagggtaggaaaacctaga	14	6	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr11:86663042C>T	uc001pce.2	-	2	1062	c.756G>A	c.(754-756)GAG>GAA	p.E252E	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	252	Cytoplasmic (Potential).				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			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGATGGGGCGCTCAGGGTAGG	0.453													T	86663042	C	T	86663042	2	4	183	1	0	0	0	0	0	0	0	1	6132	796	28	2		2	FZD4	11	86663042	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	9596330	86663042	48343474	86	97137											
MED17	9440	broad.mit.edu	37	chr11	93543040	93543040	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtggtgactatgctatttCaggtactttctgctgctttg	10	7	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr11:93543040C>T	uc001pem.3	+	11	2017	c.1742C>T	c.(1741-1743)TCA>TTA	p.S581L		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	581					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			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATGCTATTTCAGGTACTTTC	0.413													T	93543040	C	T	93543040	3	4	183	1	0	0	0	0	1	0	0	0	9435	838	29	4	1784	4	MED17	11	93543040	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	6879998	93543040	41463476	87	97138											
OPCML	4978	broad.mit.edu	37	chr11	132527089	132527089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttggatcatgatgctgTactgggttggtgtattgacc	12	6	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr11:132527089T>C	uc001qgs.2	-	2	343	c.293A>G	c.(292-294)TAC>TGC	p.Y98C	OPCML_uc001qgu.2_Missense_Mutation_p.Y91C|OPCML_uc010sck.1_Missense_Mutation_p.Y98C|OPCML_uc001qgt.2_Missense_Mutation_p.Y98C|OPCML_uc010scl.1_Missense_Mutation_p.Y57C	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	98	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	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)		CATGATGCTGTACTGGGTTGG	0.517													C	132527089	T	C	132527089	3	2	183	1	0	0	0	0	1	0	0	0	10874	1638	57	3	768	3	OPCML	11	132527089	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	38984049	132527089	2479427	88	97139											
ABCC9	10060	broad.mit.edu	37	chr12	21995340	21995340	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaggagtagcataagaaatCatcccaatggcagacaggca	10	9	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:21995340C>T	uc001rfi.1	-	27	3401	c.3381G>A	c.(3379-3381)ATG>ATA	p.M1127I	ABCC9_uc001rfh.2_Missense_Mutation_p.M1127I|ABCC9_uc001rfj.1_Missense_Mutation_p.M1091I	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1127	ABC transmembrane type-1 2.|Cytoplasmic (Potential).				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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATAAGAAATCATCCCAATGG	0.433													T	21995340	C	T	21995340	3	4	183	1	0	0	0	0	1	0	0	0	59	826	29	4	1458	4	ABCC9	12	21995340	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		21995340	111856555	89	97140											
PDZRN4	29951	broad.mit.edu	37	chr12	41900359	41900359	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggtgttaaggcgaacaccTcttagtagaccagcctatgg	11	10	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:41900359T>A	uc010skn.1	+	4	416	c.348T>A	c.(346-348)CCT>CCA	p.P116P	PDZRN4_uc001rmq.3_Silent_p.P57P|PDZRN4_uc009zjz.2_Silent_p.P55P|PDZRN4_uc001rmr.2_5'Flank	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	315							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGCGAACACCTCTTAGTAGAC	0.512													A	41900359	T	A	41900359	2	1	183	1	0	0	0	0	0	0	0	1	11710	1538	54	5		5	PDZRN4	12	41900359	Silent	SNP	T	TCGA-CG-4476-01A-01D-1158-08	19905019	41900359	91951536	90	97141											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858256	42858256	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacactttgctctggtttcAggtctgacagacactccagg	10	11	3	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:42858256A>C	uc010skv.1	-	7	1867	c.1580T>G	c.(1579-1581)CTG>CGG	p.L527R	PRICKLE1_uc001rnl.2_Missense_Mutation_p.L527R|PRICKLE1_uc010skw.1_Missense_Mutation_p.L527R|PRICKLE1_uc001rnm.2_Missense_Mutation_p.L527R	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	527					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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTCTGGTTTCAGGTCTGACAG	0.443													C	42858256	A	C	42858256	3	2	183	1	0	0	0	0	1	0	0	0	12486	188	7	5	923	5	PRICKLE1	12	42858256	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	957897	42858256	90993639	91	97142											
KRT78	196374	broad.mit.edu	37	chr12	53242671	53242671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagcagaacaggctgagCgagcgctgaagcccctctgg	15	12	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:53242671C>T	uc001sbc.1	-	1	108	c.44G>A	c.(43-45)CGC>CAC	p.R15H		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	15	Head.|Gly-rich.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						ACAGGCTGAGCGAGCGCTGAA	0.632													T	53242671	C	T	53242671	3	4	183	1	0	0	0	0	1	0	0	0	8491	768	27	1	1554	1	KRT78	12	53242671	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	10384415	53242671	80609224	92	97143											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449766	85449766	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacagctaataataagtagtGcattaaagaagagcggatat	9	4	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:85449766G>C	uc001tac.2	+	8	1306	c.1195G>C	c.(1195-1197)GCA>CCA	p.A399P	LRRIQ1_uc001tab.1_Missense_Mutation_p.A399P|LRRIQ1_uc001taa.1_Missense_Mutation_p.A374P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	399										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AATAAGTAGTGCATTAAAGAA	0.279													C	85449766	G	C	85449766	3	2	183	1	0	0	0	0	1	0	0	0	9029	1319	46	5	1221	5	LRRIQ1	12	85449766	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	32207095	85449766	48402129	93	97144											
KERA	11081	broad.mit.edu	37	chr12	91445274	91445274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatggatgggctgggaCatattacagagacattcaca	12	8	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:91445274C>A	uc001tbl.2	-	3	1527	c.908G>T	c.(907-909)TGT>TTT	p.C303F		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	303	LRR 10.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						TGGGCTGGGACATATTACAGA	0.428													A	91445274	C	A	91445274	3	1	183	1	0	0	0	0	1	0	0	0	8143	478	17	5	154	5	KERA	12	91445274	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	5995508	91445274	42406621	94	97145											
C12orf63	374467	broad.mit.edu	37	chr12	97073407	97073407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaaagcgcttgtctgcGtgcccgtggacgtgacagac	14	12	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:97073407G>A	uc001tet.1	+	7	946	c.868G>A	c.(868-870)GTG>ATG	p.V290M		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	290										skin(6)|ovary(1)	7						GCTTGTCTGCGTGCCCGTGGA	0.468													A	97073407	G	A	97073407	3	1	183	1	0	0	0	0	1	0	0	0	1706	1145	40	1	890	1	C12orf63	12	97073407	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	5628133	97073407	36778488	95	97146											
STAB2	55576	broad.mit.edu	37	chr12	104118856	104118856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatggatttacctgccGcggcagcatttatcaggtaa	12	8	1	1	rs140998727		TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:104118856G>A	uc001tjw.2	+	45	4973	c.4787G>A	c.(4786-4788)CGC>CAC	p.R1596H	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1596	Extracellular (Potential).|FAS1 5.				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	p.R1596R(1)		ovary(9)|skin(5)	14						TTTACCTGCCGCGGCAGCATT	0.448													A	104118856	G	A	104118856	3	1	183	1	0	0	0	0	1	0	0	0	15237	1087	38	1	4965	1	STAB2	12	104118856	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	7045449	104118856	29733039	96	97147											
C12orf51	283450	broad.mit.edu	37	chr12	112600915	112600915	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcagtgtcgggacccccatCtttgcaggggcaggtgaacg	16	11	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:112600915C>G	uc009zwc.2	-	68	11803	c.11785G>C	c.(11785-11787)GAT>CAT	p.D3929H		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GGACCCCCATCTTTGCAGGGG	0.627													G	112600915	C	G	112600915	3	3	183	1	0	0	0	0	1	0	0	0	1696	913	32	5	213	5	C12orf51	12	112600915	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	8482059	112600915	21250980	97	97148											
DNAH10	196385	broad.mit.edu	37	chr12	124315205	124315205	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacacacagatgttctcaatGagattgtcacagcagcaatc	7	10	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr12:124315205G>C	uc001uft.3	+	25	4175	c.4150G>C	c.(4150-4152)GAG>CAG	p.E1384Q		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1384	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TGTTCTCAATGAGATTGTCAC	0.368													C	124315205	G	C	124315205	3	2	183	1	0	0	0	0	1	0	0	0	4598	1291	45	5	4248	5	DNAH10	12	124315205	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	11714290	124315205	9536690	98	97149											
TUBA3C	7278	broad.mit.edu	37	chr13	19751671	19751671	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agagccgctccatgagcagaGatgcgaacccagagccagtg	13	12	0	4			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:19751671G>C	uc009zzj.2	-	4	501	c.452C>G	c.(451-453)TCT>TGT	p.S151C		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	151					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		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)		CATGAGCAGAGATGCGAACCC	0.582													C	19751671	G	C	19751671	3	2	183	1	0	0	0	0	1	0	0	0	16743	942	33	5	908	5	TUBA3C	13	19751671	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08		19751671	95418207	99	97150											
DCLK1	9201	broad.mit.edu	37	chr13	36379850	36379850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttacattaacccagggatGctcaagtacttgaacagcag	8	10	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:36379850G>T	uc001uvf.2	-	15	2163	c.1930C>A	c.(1930-1932)CAT>AAT	p.H644N	DCLK1_uc001uve.3_Missense_Mutation_p.H337N|DCLK1_uc010teh.1_Missense_Mutation_p.H337N|DCLK1_uc010abk.2_Missense_Mutation_p.H164N	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	644	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			stomach(6)|ovary(2)|skin(1)	9		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)		ACCCAGGGATGCTCAAGTACT	0.408													T	36379850	G	T	36379850	3	4	183	1	0	0	0	0	1	0	0	0	4291	1319	46	5	275	5	DCLK1	13	36379850	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	16628179	36379850	78790028	100	97151											
SMAD9	4093	broad.mit.edu	37	chr13	37446989	37446989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaggcgctgcggaacTtggccaggaggctgagctgg	20	9	0	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:37446989T>C	uc001uvw.2	-	3	819	c.476A>G	c.(475-477)AAG>AGG	p.K159R	SMAD9_uc001uvx.2_Missense_Mutation_p.K159R|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	159					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				0		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)		GCTGCGGAACTTGGCCAGGAG	0.562													C	37446989	T	C	37446989	3	2	183	1	0	0	0	0	1	0	0	0	14764	1609	56	3	947	3	SMAD9	13	37446989	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	1067139	37446989	77722889	101	97152											
LRCH1	23143	broad.mit.edu	37	chr13	47263329	47263329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataagcgattatctgccaccGaggtaaagttagtgatcaga	10	7	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:47263329G>A	uc001vbj.2	+	7	1248	c.1012G>A	c.(1012-1014)GAG>AAG	p.E338K	LRCH1_uc010acp.2_Missense_Mutation_p.E338K|LRCH1_uc001vbk.2_Missense_Mutation_p.E338K|LRCH1_uc001vbl.3_Missense_Mutation_p.E338K	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	338										ovary(1)|central_nervous_system(1)	2		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)		ATCTGCCACCGAGGTAAAGTT	0.368													A	47263329	G	A	47263329	3	1	183	1	0	0	0	0	1	0	0	0	8932	1059	37	1	1038	1	LRCH1	13	47263329	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	9816340	47263329	67906549	102	97153											
CAB39L	81617	broad.mit.edu	37	chr13	49924993	49924993	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttggcaagtggttcatgtcGaatacattctctcagcataa	8	8	3	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:49924993G>A	uc001vcw.2	-	5	949	c.451C>T	c.(451-453)CGA>TGA	p.R151*	CAB39L_uc001vcx.2_Nonsense_Mutation_p.R151*|CAB39L_uc010adf.2_Nonsense_Mutation_p.R148*	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	151					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		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)		GGTTCATGTCGAATACATTCT	0.373													A	49924993	G	A	49924993	4	1	183	1	0	0	0	0	0	1	0	0	2526	1066	37	1	582	1	CAB39L	13	49924993	Nonsense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	2661664	49924993	65244885	103	97154											
SLITRK1	114798	broad.mit.edu	37	chr13	84454621	84454621	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctgcagcccccagggCagggtaaactgttagctaag	13	12	0	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:84454621C>G	uc001vlk.2	-	1	1908	c.1022G>C	c.(1021-1023)TGC>TCC	p.C341S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	341	Extracellular (Potential).|LRRNT 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCCCCCAGGGCAGGGTAAACT	0.542													G	84454621	C	G	84454621	3	3	183	1	0	0	0	0	1	0	0	0	14742	710	25	5	1072	5	SLITRK1	13	84454621	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	34529628	84454621	30715257	104	97155											
SLITRK5	26050	broad.mit.edu	37	chr13	88329122	88329122	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctccagtacaatctcatCcgcgagattcagtctggaac	7	13	3	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:88329122C>T	uc001vln.2	+	2	1698	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I	SLITRK5_uc010tic.1_Silent_p.I252I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	493	Extracellular (Potential).|LRR 10.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAATCTCATCCGCGAGATTC	0.542													T	88329122	C	T	88329122	2	4	183	1	0	0	0	0	0	0	0	1	14746	845	30	4		4	SLITRK5	13	88329122	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	3874501	88329122	26840756	105	97156											
SLITRK5	26050	broad.mit.edu	37	chr13	88330443	88330443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaaccggaacgaatatctgGagttaaaagcaaaactaaac	7	9	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr13:88330443G>T	uc001vln.2	+	2	3019	c.2800G>T	c.(2800-2802)GAG>TAG	p.E934*	SLITRK5_uc010tic.1_Nonsense_Mutation_p.E693*	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	934	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAATATCTGGAGTTAAAAGC	0.517													T	88330443	G	T	88330443	4	4	183	1	0	0	0	0	0	1	0	0	14746	1175	41	5	2802	5	SLITRK5	13	88330443	Nonsense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	1321	88330443	26839435	106	97157											
HEATR5A	25938	broad.mit.edu	37	chr14	31792845	31792845	+	Frame_Shift_Del	DEL	T	T	-													tgttagcattctcacattggTtaattatcctacagacacat							TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr14:31792844_31792844GT>G	uc001wrf.4	-	23	3899	c.3714_3714AC>C	c.(3712-3714)aacfs	p.N1238fs	HEATR5A_uc010ami.3_Frame_Shift_Del_p.N843fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.N827fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1232							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)		TCTCACATTGGTTAATTATCC	0.398													-	31792845	T	-	31792845	7	5	183	1	0	1	0	1	0	0	0	0	7031	1725	60	0	2479	0	HEATR5A	14	31792845	Frame_Shift_Del	DEL	T	TCGA-CG-4476-01A-01D-1158-08		31792845	75556695	107	97158											
MIPOL1	145282	broad.mit.edu	37	chr14	37739664	37739664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagataaagaacagagaAaactaaagtttaagctggaa	9	3	0	4			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr14:37739664A>C	uc001wuc.2	+	7	930	c.427A>C	c.(427-429)AAA>CAA	p.K143Q	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.K112Q|MIPOL1_uc001wud.2_Missense_Mutation_p.K143Q|MIPOL1_uc010ams.2_Missense_Mutation_p.K143Q|MIPOL1_uc001wue.2_Missense_Mutation_p.K112Q|MIPOL1_uc010amt.2_Intron	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	143	Potential.									ovary(1)|central_nervous_system(1)	2	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)		AGAACAGAGAAAACTAAAGTT	0.328													C	37739664	A	C	37739664	3	2	183	1	0	0	0	0	1	0	0	0	9593	15	1	5	441	5	MIPOL1	14	37739664	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	5946819	37739664	69609876	108	97159											
PTPN21	11099	broad.mit.edu	37	chr14	88945666	88945666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggattagcatggtggcGtccgacagggacttcttatg	14	8	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr14:88945666G>A	uc001xwv.3	-	13	2440	c.2109C>T	c.(2107-2109)GAC>GAT	p.D703D	PTPN21_uc010twc.1_Silent_p.D499D	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	703						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GCATGGTGGCGTCCGACAGGG	0.682													A	88945666	G	A	88945666	2	1	183	1	0	0	0	0	0	0	0	1	12786	1136	40	1		1	PTPN21	14	88945666	Silent	SNP	G	TCGA-CG-4476-01A-01D-1158-08	51206002	88945666	18403874	109	97160											
KIAA1409	57578	broad.mit.edu	37	chr14	94120100	94120100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccagcatgatggttccCggcaatgcggcgggggtggc	16	11	0	1	rs139115792		TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr14:94120100C>T	uc001ybv.1	+	35	5831	c.5748C>T	c.(5746-5748)CCC>CCT	p.P1916P	KIAA1409_uc001ybs.1_Silent_p.P1894P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2071						integral to membrane		p.P1894P(1)		ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGATGGTTCCCGGCAATGCGG	0.537													T	94120100	C	T	94120100	2	4	183	1	0	0	0	0	0	0	0	1	8230	639	23	1		1	KIAA1409	14	94120100	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	5174434	94120100	13229440	110	97161											
ATG2B	55102	broad.mit.edu	37	chr14	96789038	96789038	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattctctccaaaatggAatgcatggctggtggattta	10	7	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr14:96789038A>T	uc001yfi.2	-	17	2940	c.2575T>A	c.(2575-2577)TCC>ACC	p.S859T		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	859										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCCAAAATGGAATGCATGGCT	0.378													T	96789038	A	T	96789038	3	4	183	1	0	0	0	0	1	0	0	0	1094	246	9	5	3765	5	ATG2B	14	96789038	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	2668938	96789038	10560502	111	97162											
RTF1	23168	broad.mit.edu	37	chr15	41763442	41763442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcgggttcgattatcacgGcataagctagaacgctggtg	12	8	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr15:41763442G>A	uc001zny.2	+	8	1110	c.1098G>A	c.(1096-1098)CGG>CGA	p.R366R		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	366	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		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)		GATTATCACGGCATAAGCTAG	0.458													A	41763442	G	A	41763442	2	1	183	1	0	0	0	0	0	0	0	1	13721	1190	42	2		2	RTF1	15	41763442	Silent	SNP	G	TCGA-CG-4476-01A-01D-1158-08		41763442	60767950	112	97163											
ANKDD1A	348094	broad.mit.edu	37	chr15	65226358	65226358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacctaagctgccttcactAtgcagccctcagtggctcgg	9	14	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr15:65226358A>G	uc002aoa.2	+	9	820	c.791A>G	c.(790-792)TAT>TGT	p.Y264C	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.Y173C	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	264	ANK 8.				signal transduction					ovary(1)	1						TGCCTTCACTATGCAGCCCTC	0.458													G	65226358	A	G	65226358	3	3	183	1	0	0	0	0	1	0	0	0	624	449	16	3	825	3	ANKDD1A	15	65226358	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	23462916	65226358	37305034	113	97164											
IL16	3603	broad.mit.edu	37	chr15	81584977	81584977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agaactcagcacccccgcatCgcagggctcagaaggtcatg	11	14	3	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr15:81584977C>G	uc002bgh.3	+	12	1877	c.1501C>G	c.(1501-1503)CGC>GGC	p.R501G	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.R501G|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.R543G|IL16_uc002bgg.2_Missense_Mutation_p.R501G|IL16_uc002bgi.1_Translation_Start_Site|IL16_uc002bgj.2_Translation_Start_Site|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	501					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						ACCCCCGCATCGCAGGGCTCA	0.602													G	81584977	C	G	81584977	3	3	183	1	0	0	0	0	1	0	0	0	7633	884	31	5	1543	5	IL16	15	81584977	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	16358619	81584977	20946415	114	97165											
FBXL16	146330	broad.mit.edu	37	chr16	747115	747115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgaggatcttctcgtcCgtggccagcggcggccgctc	13	15	2	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr16:747115C>T	uc002cjc.2	-	3	494	c.291G>A	c.(289-291)ACG>ACA	p.T97T	FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	97	F-box.										0		Hepatocellular(780;0.0218)				TCTTCTCGTCCGTGGCCAGCG	0.697													T	747115	C	T	747115	2	4	183	1	0	0	0	0	0	0	0	1	5712	639	23	1		1	FBXL16	16	747115	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08		747115	89607638	115	97166											
BTBD12	84464	broad.mit.edu	37	chr16	3647972	3647972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggtgggtcctctccGtttcagacctctactgtgat	10	12	3	2	rs138799572		TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr16:3647972G>A	uc002cvp.2	-	6	1819	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	398	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GGTCCTCTCCGTTTCAGACCT	0.577								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3647972	G	A	3647972	3	1	183	1	0	0	0	0	1	0	0	0	1540	1144	40	1	4352	1	BTBD12	16	3647972	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	2900857	3647972	86706781	116	97167											
ERCC4	2072	broad.mit.edu	37	chr16	14041537	14041537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgaatttcgaagtgagcTtccatctctgatccatcgtc	9	11	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr16:14041537T>C	uc002dce.2	+	11	2093	c.2084T>C	c.(2083-2085)CTT>CCT	p.L695P	ERCC4_uc010uyz.1_Missense_Mutation_p.L245P	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	695	ERCC4.|Interaction with EME1 and ERCC1.				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			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						CGAAGTGAGCTTCCATCTCTG	0.468			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	14041537	T	C	14041537	3	2	183	1	0	0	0	0	1	0	0	0	5215	1609	56	3	2126	3	ERCC4	16	14041537	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	10393565	14041537	76313216	117	97168											
NOMO1	23420	broad.mit.edu	37	chr16	14947462	14947462	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtgggggctacactgtgGtgagtaaagcagatttccgt	14	7	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr16:14947462G>T	uc002dcv.2	+	8	939	c.873_splice	c.e8+1	p.V291_splice		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor							integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						CTACACTGTGGTGAGTAAAGC	0.478													T	14947462	G	T	14947462	5	4	183	1	0	0	0	0	0	0	1	0	10531	1275	44	5	904	5	NOMO1	16	14947462	Splice_Site	SNP	G	TCGA-CG-4476-01A-01D-1158-08	905925	14947462	75407291	118	97169											
DNAH3	55567	broad.mit.edu	37	chr16	21033315	21033315	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcagagaagagtacagtctCatcattgagaaggcaaggtg	13	6	2	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr16:21033315C>T	uc010vbe.1	-	40	5754	c.5754G>A	c.(5752-5754)ATG>ATA	p.M1918I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1918					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGTACAGTCTCATCATTGAGA	0.428													T	21033315	C	T	21033315	3	4	183	1	0	0	0	0	1	0	0	0	4603	826	29	4	6687	4	DNAH3	16	21033315	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	6085853	21033315	69321438	119	97170											
SLC5A11	115584	broad.mit.edu	37	chr16	24918379	24918379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatggctgtgatggtggCggctctcatgtcctccctca	13	11	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr16:24918379C>T	uc002dmu.2	+	12	1380	c.1148C>T	c.(1147-1149)GCG>GTG	p.A383V	SLC5A11_uc002dms.2_Missense_Mutation_p.A319V|SLC5A11_uc010vcd.1_Missense_Mutation_p.A348V|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A313V|SLC5A11_uc010bxt.2_Missense_Mutation_p.A319V|SLC5A11_uc002dmv.2_Missense_Mutation_p.A6V	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	383	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		GTGATGGTGGCGGCTCTCATG	0.612													T	24918379	C	T	24918379	3	4	183	1	0	0	0	0	1	0	0	0	14663	768	27	1	1190	1	SLC5A11	16	24918379	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	3885064	24918379	65436374	120	97171											
SLC13A5	284111	broad.mit.edu	37	chr17	6607272	6607272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttgtggcttccatctGctgcaatatggcctccacga	10	13	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr17:6607272G>T	uc002gdj.2	-	4	560	c.472C>A	c.(472-474)CAG>AAG	p.Q158K	SLC13A5_uc010vtf.1_Missense_Mutation_p.Q158K|SLC13A5_uc010clq.2_Missense_Mutation_p.Q115K|SLC13A5_uc002gdk.2_Missense_Mutation_p.Q141K|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q140K	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	158						integral to membrane	citrate transmembrane transporter activity				0						GCTTCCATCTGCTGCAATATG	0.642													T	6607272	G	T	6607272	3	4	183	1	0	0	0	0	1	0	0	0	14395	1328	46	5	1270	5	SLC13A5	17	6607272	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08		6607272	74587938	121	97172											
MYH13	8735	broad.mit.edu	37	chr17	10224947	10224947	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagtgtttgctgatgggcctCctgtagagatttcttttctt	10	8	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr17:10224947C>G	uc002gmk.1	-	24	3103	c.3013G>C	c.(3013-3015)GAG>CAG	p.E1005Q	MYH13_uc010vve.1_Missense_Mutation_p.E103Q	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1005	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGATGGGCCTCCTGTAGAGAT	0.378													G	10224947	C	G	10224947	3	3	183	1	0	0	0	0	1	0	0	0	10032	864	30	5	2875	5	MYH13	17	10224947	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	3617675	10224947	70970263	122	97173											
MPP2	4355	broad.mit.edu	37	chr17	41959871	41959871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgccctccacgcggaaCgttacaccctggaggtcaga	11	16	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr17:41959871C>T	uc010wip.1	-	6	654	c.597G>A	c.(595-597)ACG>ACA	p.T199T	MPP2_uc002ien.1_Silent_p.T171T|MPP2_uc010wim.1_Silent_p.T143T|MPP2_uc002ieo.1_Silent_p.T154T|MPP2_uc010win.1_Silent_p.T15T|MPP2_uc010wio.1_Silent_p.T143T|MPP2_uc010czm.1_Silent_p.T137T	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	178					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCACGCGGAACGTTACACCCT	0.562													T	41959871	C	T	41959871	2	4	183	1	0	0	0	0	0	0	0	1	9734	523	19	1		1	MPP2	17	41959871	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	31734924	41959871	39235339	123	97174											
SCPEP1	59342	broad.mit.edu	37	chr17	55058576	55058576	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacttctcagaactgcccctGgtcatgtggcttcaggtaaa	9	11	3	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr17:55058576G>T	uc002iuv.3	+	2	263	c.210G>T	c.(208-210)CTG>CTT	p.L70L	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.L20L	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	70					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					AACTGCCCCTGGTCATGTGGC	0.512													T	55058576	G	T	55058576	2	4	183	1	0	0	0	0	0	0	0	1	13935	1335	47	5		5	SCPEP1	17	55058576	Silent	SNP	G	TCGA-CG-4476-01A-01D-1158-08	13098705	55058576	26136634	124	97175											
C17orf70	80233	broad.mit.edu	37	chr17	79517375	79517393	+	Frame_Shift_Del	DEL	TGCTCAGGGCCCAGCGGGG	TGCTCAGGGCCCAGCGGGG	-													ctcccgggccttcttcgggcTgctcagggcccagcggggtg							TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr17:79517374_79517392CTGCTCAGGGCCCAGCGGGG>C	uc002kaq.3	-	2	1201_1219	c.1128_1146CCCCGCTGGGCCCTGAGCAG>G	c.(1126-1146)accccgctgggccctgagcagfs	p.T376fs	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Frame_Shift_Del_p.T225fs	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	376					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)			CTTCTTCGGGCTGCTCAGGGCCCAGCGGGGTGCTTCCCC	0.68													-	79517393	TGCTCAGGGCCCAGCGGGG	-	79517375	7	5	183	1	0	1	0	1	0	0	0	0	1877	1580	55	0	1528	0	C17orf70	17	79517375	Frame_Shift_Del	DEL	TGCTCAGGGCCCAGCGGGG	TCGA-CG-4476-01A-01D-1158-08	24458799	79517375	1677835	125	97176											
METTL4	64863	broad.mit.edu	37	chr18	2539062	2539062	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgagaacttcattgccCcaactagtccaacctggctg	7	12	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr18:2539062C>T	uc002klh.3	-	9	2136	c.1356G>A	c.(1354-1356)TGG>TGA	p.W452*	METTL4_uc010dkj.2_3'UTR	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	452					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2						CTTCATTGCCCCAACTAGTCC	0.368													T	2539062	C	T	2539062	4	4	183	1	0	0	0	0	0	1	0	0	9502	624	22	4	66	4	METTL4	18	2539062	Nonsense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		2539062	75538186	126	97177											
LAMA1	284217	broad.mit.edu	37	chr18	6983112	6983112	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccaggctcgtctcagTcacagtcctgtgagcatctc	8	15	3	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr18:6983112T>A	uc002knm.2	-	40	5876	c.5782A>T	c.(5782-5784)ACT>TCT	p.T1928S	LAMA1_uc010wzj.1_Missense_Mutation_p.T1404S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1928	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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCGTCTCAGTCACAGTCCTG	0.512													A	6983112	T	A	6983112	3	1	183	1	0	0	0	0	1	0	0	0	8605	1667	58	5	3541	5	LAMA1	18	6983112	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08	4444050	6983112	71094136	127	97178											
MUC16	94025	broad.mit.edu	37	chr19	8994159	8994159	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctgagcaaggtcagcctGcagccagagtacagagggcc	13	13	1	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr19:8994159G>T	uc002mkp.2	-	65	41730	c.41526C>A	c.(41524-41526)TGC>TGA	p.C13842*	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Nonsense_Mutation_p.C659*|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13845	Extracellular (Potential).|SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGTCAGCCTGCAGCCAGAGT	0.532													T	8994159	G	T	8994159	4	4	183	1	0	0	0	0	0	1	0	0	9973	1311	46	5	2077	5	MUC16	19	8994159	Nonsense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08		8994159	50134824	128	97179											
DOCK6	57572	broad.mit.edu	37	chr19	11313353	11313353	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaccgaagtgggcgccgtaGaagcccacgcggaaatacgt	13	12	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr19:11313353G>C	uc002mqs.3	-	42	5309	c.5268C>G	c.(5266-5268)TTC>TTG	p.F1756L	DOCK6_uc002mqr.3_Missense_Mutation_p.F156L|DOCK6_uc010xlq.1_Missense_Mutation_p.F1095L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1756	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GGGCGCCGTAGAAGCCCACGC	0.617													C	11313353	G	C	11313353	3	2	183	1	0	0	0	0	1	0	0	0	4691	933	33	5	903	5	DOCK6	19	11313353	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	2319194	11313353	47815630	129	97180											
BEST2	54831	broad.mit.edu	37	chr19	12866462	12866462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtacagctacttcctgGcttgcctcattggtcgccag	9	14	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr19:12866462G>A	uc002mux.2	+	6	748	c.748G>A	c.(748-750)GCT>ACT	p.A250T		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	250	Extracellular (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						CTACTTCCTGGCTTGCCTCAT	0.577													A	12866462	G	A	12866462	3	1	183	1	0	0	0	0	1	0	0	0	1405	1203	42	2	770	2	BEST2	19	12866462	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	1553109	12866462	46262521	130	97181											
SLC13A3	64849	broad.mit.edu	37	chr20	45239108	45239108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttctcttcactctcctggCtggggtcctttcgaacctcc	8	15	3	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr20:45239108C>A	uc002xsf.1	-	3	556	c.518G>T	c.(517-519)AGC>ATC	p.S173I	SLC13A3_uc010ghn.1_Missense_Mutation_p.S142I|SLC13A3_uc010zxw.1_Missense_Mutation_p.S173I|SLC13A3_uc002xsg.1_Missense_Mutation_p.S126I|SLC13A3_uc010gho.1_Missense_Mutation_p.S126I|SLC13A3_uc010zxx.1_Missense_Mutation_p.S75I|SLC13A3_uc002xsi.3_Missense_Mutation_p.S126I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	173	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACTCTCCTGGCTGGGGTCCTT	0.532													A	45239108	C	A	45239108	3	1	183	1	0	0	0	0	1	0	0	0	14393	797	28	5	1334	5	SLC13A3	20	45239108	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		45239108	17786412	131	97182											
TIAM1	7074	broad.mit.edu	37	chr21	32492849	32492849	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatccagggttttccggcctCtttcccgctgactgatggag	11	12	1	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr21:32492849C>T	uc002yow.1	-	29	5085	c.4613G>A	c.(4612-4614)AGA>AAA	p.R1538K	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1478K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1538					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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TTTCCGGCCTCTTTCCCGCTG	0.602													T	32492849	C	T	32492849	3	4	183	1	0	0	0	0	1	0	0	0	15887	913	32	4	166	4	TIAM1	21	32492849	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08		32492849	15637046	132	97183											
MX2	4600	broad.mit.edu	37	chr21	42770928	42770928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccagccaggaggccgacaaGatgttctttctaattgaggt	11	10	2	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr21:42770928G>T	uc002yzf.1	+	9	1358	c.1254G>T	c.(1252-1254)AAG>AAT	p.K418N	MX2_uc011aer.1_RNA|MX2_uc002yzg.1_Missense_Mutation_p.K141N|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	418					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGCCGACAAGATGTTCTTTC	0.592													T	42770928	G	T	42770928	3	4	183	1	0	0	0	0	1	0	0	0	9998	933	33	5	1284	5	MX2	21	42770928	Missense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08	10278079	42770928	5358967	133	97184											
MCM3AP	8888	broad.mit.edu	37	chr21	47703695	47703695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagggagacaagcccccaAgactgtctgtgctctcgctt	11	13	2	3			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr21:47703695A>G	uc002zir.1	-	2	1313	c.1277T>C	c.(1276-1278)CTT>CCT	p.L426P	C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	426					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CAAGCCCCCAAGACTGTCTGT	0.493													G	47703695	A	G	47703695	3	3	183	1	0	0	0	0	1	0	0	0	9388	72	3	3	4773	3	MCM3AP	21	47703695	Missense_Mutation	SNP	A	TCGA-CG-4476-01A-01D-1158-08	4932767	47703695	426200	134	97185											
CECR1	51816	broad.mit.edu	37	chr22	17670888	17670888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagccccatggccattcGgatggattctgcgatgacag	13	11	1	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr22:17670888G>A	uc002zmk.1	-	5	1128	c.916C>T	c.(916-918)CGA>TGA	p.R306*	CECR1_uc010gqu.1_Nonsense_Mutation_p.R306*|CECR1_uc011agi.1_Nonsense_Mutation_p.R264*|CECR1_uc011agj.1_3'UTR|CECR1_uc002zmj.1_Nonsense_Mutation_p.R65*	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	306					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			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGGCCATTCGGATGGATTCT	0.567													A	17670888	G	A	17670888	4	1	183	1	0	0	0	0	0	1	0	0	3205	1124	39	1	639	1	CECR1	22	17670888	Nonsense_Mutation	SNP	G	TCGA-CG-4476-01A-01D-1158-08		17670888	33633678	135	97186											
PPM1F	9647	broad.mit.edu	37	chr22	22287943	22287943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagcaaagtaggcgcggttCacagggtcctggtggggatg	17	8	1	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr22:22287943C>T	uc002zvp.1	-	5	681	c.567G>A	c.(565-567)GTG>GTA	p.V189V	PPM1F_uc011aik.1_Silent_p.V85V|PPM1F_uc002zvq.2_Silent_p.V189V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	189					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGGCGCGGTTCACAGGGTCCT	0.667													T	22287943	C	T	22287943	2	4	183	1	0	0	0	0	0	0	0	1	12339	813	29	4		4	PPM1F	22	22287943	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	4617055	22287943	29016623	136	97187											
SMCR7L	54471	broad.mit.edu	37	chr22	39909957	39909957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacctgtggcggctgagcCtgcgtcccgcggagacggca	15	14	0	2			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chr22:39909957C>A	uc003axx.2	+	6	1519	c.1021C>A	c.(1021-1023)CTG>ATG	p.L341M	SMCR7L_uc003axw.2_Missense_Mutation_p.L341M|SMCR7L_uc010gxz.1_Missense_Mutation_p.L163M|SMCR7L_uc003axy.2_Missense_Mutation_p.L163M	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	341						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					GCGGCTGAGCCTGCGTCCCGC	0.612											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39909957	C	A	39909957	3	1	183	1	0	0	0	0	1	0	0	0	14791	680	24	5	1035	5	SMCR7L	22	39909957	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	17622014	39909957	11394609	137	97188											
SLC25A6	293	broad.mit.edu	37	chrX	1508415	1508415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacctccagaactgcgtgTgcttgtccacgccccccagg	10	16	0	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chrX:1508415T>C	uc004cpt.2	-	2	413	c.317A>G	c.(316-318)CAC>CGC	p.H106R	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	106				KHTQ -> RHA (in Ref. 5; AAA36750).	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				0		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)	GAACTGCGTGTGCTTGTCCAC	0.607													C	1508415	T	C	1508415	3	2	183	1	0	0	0	0	1	0	0	0	14513	1696	59	3	591	3	SLC25A6	23	1508415	Missense_Mutation	SNP	T	TCGA-CG-4476-01A-01D-1158-08		1508415	153762145	138	97189											
GPR173	54328	broad.mit.edu	37	chrX	53106025	53106025	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatggcatacgctctgccgtCtgcttcccctttgtgctggc	11	14	2	0			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chrX:53106025C>T	uc004dru.2	+	2	480	c.222C>T	c.(220-222)GTC>GTT	p.V74V		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	74	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GCTCTGCCGTCTGCTTCCCCT	0.582													T	53106025	C	T	53106025	2	4	183	1	0	0	0	0	0	0	0	1	6671	900	32	4		4	GPR173	23	53106025	Silent	SNP	C	TCGA-CG-4476-01A-01D-1158-08	51597610	53106025	102164535	139	97190											
CAPN6	827	broad.mit.edu	37	chrX	110496246	110496246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccttactttgcataagCtttttccagcagagcattcc	5	13	0	1			TCGA-CG-4476-01A-01D-1158-08	TCGA-CG-4476-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38c30e53-4e81-49ce-b794-5f762ed76f1e	e6d94f34-0c27-4a7b-adbd-d0fab08eb80d	g.chrX:110496246C>T	uc004epc.1	-	4	664	c.496G>A	c.(496-498)GCT>ACT	p.A166T	CAPN6_uc011msu.1_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	166	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						TTTGCATAAGCTTTTTCCAGC	0.443													T	110496246	C	T	110496246	3	4	183	1	0	0	0	0	1	0	0	0	2630	797	28	2	1469	2	CAPN6	23	110496246	Missense_Mutation	SNP	C	TCGA-CG-4476-01A-01D-1158-08	57390221	110496246	44774314	140	97191											
LZIC	84328	broad.mit.edu	37	chr1	9994876	9994876	+	Frame_Shift_Del	DEL	C	C	-													ctttgcaaacaatctgatgaCctctggggttttaaaggcct							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:9994875_9994875AC>A	uc010oah.2	-	4	412	c.344_344GT>T	c.(343-345)gtcfs	p.V115fs	LZIC_uc001aqm.3_Frame_Shift_Del_p.V94fs|LZIC_uc001aqo.3_Frame_Shift_Del_p.V94fs|LZIC_uc009vmr.3_Frame_Shift_Del_p.V94fs	NM_032368	NP_115744	Q8WZA0	LZIC_HUMAN	Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA.	94							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)		CAATCTGATGACCTCTGGGGT	0.388													-	9994876	C	-	9994876	7	5	184	1	0	1	0	1	0	0	0	0	9135	507	18	0	308	0	LZIC	1	9994876	Frame_Shift_Del	DEL	C	TCGA-CG-4477-01A-01D-1158-08		9994876	239255745	1	97192											
HSPG2	3339	broad.mit.edu	37	chr1	22222792	22222792	+	Frame_Shift_Del	DEL	C	C	-													aagccatcgtatgccctcagCccatgggtcacctgtaagca							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:22222791_22222791GC>G	uc009vqd.3	-	1	116	c.76_76GC>C	c.(76-78)ctgfs	p.L26fs	HSPG2_uc001bfj.3_Frame_Shift_Del_p.L26fs|HSPG2_uc009vqe.1_5'UTR	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	26					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)	TATGCCCTCAGCCCATGGGTC	0.557													-	22222792	C	-	22222792	7	5	184	1	0	1	0	1	0	0	0	0	7430	726	26	0	13484	0	HSPG2	1	22222792	Frame_Shift_Del	DEL	C	TCGA-CG-4477-01A-01D-1158-08	12227916	22222792	227027829	2	97193											
NCDN	23154	broad.mit.edu	37	chr1	36026336	36026337	+	Frame_Shift_Ins	INS	-	-	C													ggctatggctttgaccaggcINScctggcactcctggtggggc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:36026335_36026336G>GC	uc001bza.3	+	3	710_711	c.583_584G>GC	c.(583-585)gccfs	p.A195fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Ins_p.A195fs|NCDN_uc001bzc.3_Frame_Shift_Ins_p.A178fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	195					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)				CTTTGACCAGGCCCTGGCACTC	0.663													C	36026337	-	C	36026336	7	5	184	1	0	1	1	0	0	0	0	0	10214	739	26	0	594	0	NCDN	1	36026336	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	13803544	36026336	213224285	3	97194											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948822	37948824	+	In_Frame_Del	DEL	CTA	CTA	-													ccccgagccccttacacgggCtacagtccctatggatctga							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:37948821_37948823GCTA>G	uc001cbb.4	+	5	1559_1561	c.1409_1411GCTA>G	c.(1408-1413)ggctac>gGac	p.Y471del	ZC3H12A_uc001cbc.1_In_Frame_Del_p.Y266del	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	471	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)				CCTTACACGGGCTACAGTCCCTA	0.66													-	37948824	CTA	-	37948822	7	5	184	1	0	1	0	1	0	0	0	0	17558	784	28	0	1428	0	ZC3H12A	1	37948822	In_Frame_Del	DEL	CTA	TCGA-CG-4477-01A-01D-1158-08	1922486	37948822	211301799	4	97195											
PIK3R3	8503	broad.mit.edu	37	chr1	46531734	46531734	+	Frame_Shift_Del	DEL	T	T	-													taatataccaacctgggatgTtctagtatattcttcataca							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:46531733_46531733GT>G	uc010olw.2	-	4	769	c.752_752AC>C	c.(751-753)acafs	p.T251fs	PIK3R3_uc001cpb.4_Frame_Shift_Del_p.T205fs|PIK3R3_uc009vyb.3_Frame_Shift_Del_p.T205fs|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.T222fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.T205fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	205					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AACCTGGGATGTTCTAGTATA	0.323													-	46531734	T	-	46531734	7	5	184	1	0	1	0	1	0	0	0	0	11920	1725	60	0	796	0	PIK3R3	1	46531734	Frame_Shift_Del	DEL	T	TCGA-CG-4477-01A-01D-1158-08	8582912	46531734	202718887	5	97196											
MSH4	4438	broad.mit.edu	37	chr1	76342667	76342680	+	Frame_Shift_Del	DEL	GTTCCTTGGAAGAC	GTTCCTTGGAAGAC	-													tttattaagagcttactatgGttccttggaagacaagaggt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:76342666_76342679GGTTCCTTGGAAGAC>G	uc001dhd.2	+	9	1466_1479	c.1351_1364GGTTCCTTGGAAGAC>G	c.(1351-1365)ggttccttggaagacfs	p.G451fs		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	451					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						AGCTTACTATGGTTCCTTGGAAGACAAGAGGTCT	0.285								Mismatch excision repair (MMR)					-	76342680	GTTCCTTGGAAGAC	-	76342667	7	5	184	1	0	1	0	1	0	0	0	0	9872	1261	44	0	1390	0	MSH4	1	76342667	Frame_Shift_Del	DEL	GTTCCTTGGAAGAC	TCGA-CG-4477-01A-01D-1158-08	29810933	76342667	172907954	6	97197											
AHCYL1	10768	broad.mit.edu	37	chr1	110561712	110561741	+	In_Frame_Del	DEL	TTTGTTCTGTCCATCACAGCCACAACACAG	TTTGTTCTGTCCATCACAGCCACAACACAG	-													gctgctccacagttcccaccTttgttctgtccatcacagcc					rs75754234		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:110561711_110561740CTTTGTTCTGTCCATCACAGCCACAACACAG>C	uc001dyx.3	+	13	1644_1673	c.1356_1385CTTTGTTCTGTCCATCACAGCCACAACACAG>C	c.(1354-1386)acctttgttctgtccatcacagccacaacacag>acCg	p.FVLSITATTQ453del	AHCYL1_uc010ovw.2_In_Frame_Del_p.FVLSITATTQ406del|AHCYL1_uc021ork.1_In_Frame_Del_p.FVLSITATTQ406del|AHCYL1_uc010ovx.2_In_Frame_Del_p.FVLSITATTQ406del|AHCYL1_uc001dyy.3_In_Frame_Del_p.FVLSITATTQ406del	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	453					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CAGTTCCCACCTTTGTTCTGTCCATCACAGCCACAACACAGGTATGTGGC	0.487													-	110561741	TTTGTTCTGTCCATCACAGCCACAACACAG	-	110561712	7	5	184	1	0	1	0	1	0	0	0	0	410	1609	56	0	1411	0	AHCYL1	1	110561712	In_Frame_Del	DEL	TTTGTTCTGTCCATCACAGCCACAACACAG	TCGA-CG-4477-01A-01D-1158-08	34219045	110561712	138688909	7	97198											
KCNA10	3744	broad.mit.edu	37	chr1	111061291	111061291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagctgcccccaggcCggccttttgggctggttgag	16	11	0	2	rs139383016		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:111061291C>T	uc001dzt.1	-	1	507	c.119G>A	c.(118-120)CGG>CAG	p.R40Q		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	40						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		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)		GCCCCCAGGCCGGCCTTTTGG	0.532													T	111061291	C	T	111061291	3	4	184	1	0	0	0	0	1	0	0	0	8002	652	23	1	1420	1	KCNA10	1	111061291	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	499579	111061291	138189330	8	97199											
SYT6	148281	broad.mit.edu	37	chr1	114682265	114682265	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgctggctctgtagtttGccgctgcagccgggtgtgac	15	11	1	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:114682265G>A	uc001eev.2	-	2	479	c.229C>T	c.(229-231)CAA>TAA	p.Q77*		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	162	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)		TCTGTAGTTTGCCGCTGCAGC	0.592													A	114682265	G	A	114682265	4	1	184	1	0	0	0	0	0	1	0	0	15475	1328	46	2	1072	2	SYT6	1	114682265	Nonsense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	3620974	114682265	134568356	9	97200											
GJA5	2702	broad.mit.edu	37	chr1	147230353	147230354	+	Frame_Shift_Ins	INS	-	-	G													tgatagccatggggaaggcgINSgtgacctggtgagactccat					rs116551187	byFrequency	TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:147230352_147230353C>CG	uc021ovl.1	-	0	994_995	c.994_995G>CG	c.(994-996)cgcfs	p.R332fs	GJA5_uc001eps.1_Frame_Shift_Ins_p.R332fs|GJA5_uc001ept.1_Frame_Shift_Ins_p.R332fs	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	332					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)			ATGGGGAAGGCGGTGACCTGGT	0.55													G	147230354	-	G	147230353	7	5	184	1	0	1	1	0	0	0	0	0	6404	1116	39	0	86	0	GJA5	1	147230353	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	32548088	147230353	102020268	10	97201											
SNX27	81609	broad.mit.edu	37	chr1	151638446	151638451	+	In_Frame_Del	DEL	TGAATT	TGAATT	-													tggcatggacagtacgacagTgaattactttgccttatttg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:151638445_151638450GTGAATT>G	uc001eyn.1	+	5	959_964	c.943_948GTGAATT>G	c.(943-948)gtgaat>G	p.VN315del	SNX27_uc001eyo.3_In_Frame_Del_p.VN222del|SNX27_uc001eyp.3_In_Frame_Del_p.VN129del	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	315	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTACGACAGTGAATTACTTTGCCT	0.374													-	151638451	TGAATT	-	151638446	7	5	184	1	0	1	0	1	0	0	0	0	14897	1696	59	0	966	0	SNX27	1	151638446	In_Frame_Del	DEL	TGAATT	TCGA-CG-4477-01A-01D-1158-08	4408093	151638446	97612175	11	97202											
UBAP2L	9898	broad.mit.edu	37	chr1	154223741	154223741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtcctctagccctcagCcggctcagcagaaactgaaa	8	15	3	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:154223741C>T	uc001fep.3	+	13	1605	c.1438C>T	c.(1438-1440)CCG>TCG	p.P480S	UBAP2L_uc009wot.2_Missense_Mutation_p.P480S|UBAP2L_uc010pek.1_Missense_Mutation_p.P472S|UBAP2L_uc010pel.1_Missense_Mutation_p.P490S|UBAP2L_uc010pen.1_Missense_Mutation_p.P394S	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	480					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGCCCTCAGCCGGCTCAGCA	0.502													T	154223741	C	T	154223741	3	4	184	1	0	0	0	0	1	0	0	0	16835	739	26	2	1484	2	UBAP2L	1	154223741	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	2585295	154223741	95026880	12	97203											
APOA1BP	128240	broad.mit.edu	37	chr1	156561937	156561938	+	In_Frame_Ins	INS	-	-	ACC													caggagctatttaacgaataINSccagttcagcgtggaccaac							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:156561936_156561937T>TACC	uc001fph.3	+	1	265_266	c.226_227T>TACC	c.(226-228)tac>TACCc	p.Y76Y	APOA1BP_uc001fpi.3_In_Frame_Ins_p.Y76Y|APOA1BP_uc001fpk.3_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	76	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)					ATTTAACGAATACCAGTTCAGC	0.614													ACC	156561938	-	ACC	156561937	7	5	184	1	0	1	1	0	0	0	0	0	781	391	14	0	233	0	APOA1BP	1	156561937	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	2338196	156561937	92688684	13	97204											
DUSP12	11266	broad.mit.edu	37	chr1	161722919	161722920	+	Frame_Shift_Ins	INS	-	-	TA													accgtgaaggaagtggacctINSatagcctttgcccacaagag							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:161722918_161722919C>CTA	uc001gbo.3	+	4	739_740	c.728_729C>CTA	c.(727-729)cctfs	p.P243fs		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	243					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAAGTGGACCTATAGCCTTTG	0.436													TA	161722920	-	TA	161722919	7	5	184	1	0	1	1	0	0	0	0	0	4812	1509	53	0	747	0	DUSP12	1	161722919	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	5160982	161722919	87527702	14	97205											
ELF3	1999	broad.mit.edu	37	chr1	201981536	201981537	+	Frame_Shift_Ins	INS	-	-	C													agaaggatggcatggccttcINScaggaggccctagacccagg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:201981535_201981536T>TC	uc001gxg.4	+	2	3641_3642	c.449_450T>TC	c.(448-450)ttcfs	p.F150fs	ELF3_uc001gxi.4_Frame_Shift_Ins_p.F150fs|ELF3_uc001gxh.4_Frame_Shift_Ins_p.F150fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	150					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	p.M148fs*7(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCATGGCCTTCCAGGAGGCCC	0.564													C	201981537	-	C	201981536	7	5	184	1	0	1	1	0	0	0	0	0	5055	854	30	0	460	0	ELF3	1	201981536	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	40258617	201981536	47269085	15	97206											
RGS7	6000	broad.mit.edu	37	chr1	240966205	240966205	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcacaaaaaaccagtaccTttttctttgcctgtagaagc	5	11	2	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr1:240966205T>G	uc001hyv.2	-	16	1688	c.1358A>C	c.(1357-1359)AAG>ACG	p.K453T	RGS7_uc010pyh.1_Missense_Mutation_p.K427T|RGS7_uc010pyj.1_Missense_Mutation_p.K369T|RGS7_uc001hyu.2_Missense_Mutation_p.K453T|RGS7_uc009xgn.1_Missense_Mutation_p.K400T|RGS7_uc001hyw.2_Missense_Mutation_p.K453T|RGS7_uc001hyt.2_Missense_Mutation_p.K285T	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	453					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			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AACCAGTACCTTTTTCTTTGC	0.363													G	240966205	T	G	240966205	3	3	184	1	0	0	0	0	1	0	0	0	13310	1623	56	5	117	5	RGS7	1	240966205	Missense_Mutation	SNP	T	TCGA-CG-4477-01A-01D-1158-08	38984669	240966205	8284416	16	97207											
PDIA6	10130	broad.mit.edu	37	chr2	10930895	10930895	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcatccacagctgccaGtttcacttttcctttcgtct	6	13	2	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:10930895G>C	uc002rau.2	-	7	787	c.649C>G	c.(649-651)CTG>GTG	p.L217V	PDIA6_uc010yjg.1_Missense_Mutation_p.L214V|PDIA6_uc002rav.2_Missense_Mutation_p.L269V|PDIA6_uc010yjh.1_Missense_Mutation_p.L222V|PDIA6_uc002raw.2_Missense_Mutation_p.L265V	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	protein disulfide isomerase A6 precursor	217	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ACAGCTGCCAGTTTCACTTTT	0.413													C	10930895	G	C	10930895	3	2	184	1	0	0	0	0	1	0	0	0	11672	1020	36	5	701	5	PDIA6	2	10930895	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08		10930895	232268478	17	97208											
APOB	338	broad.mit.edu	37	chr2	21233527	21233527	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaaggtctcaaaaaatggGaggttaatggagtgaacatc	12	5	1	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:21233527G>A	uc002red.2	-	26	6341	c.6213C>T	c.(6211-6213)CTC>CTT	p.L2071L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2071	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAAAAAATGGGAGGTTAATGG	0.363													A	21233527	G	A	21233527	2	1	184	1	0	0	0	0	0	0	0	1	785	1161	41	4		4	APOB	2	21233527	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	10302632	21233527	221965846	18	97209											
APOB	338	broad.mit.edu	37	chr2	21241934	21241934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggagctcataggttgcGctgacagaatactgctcaat	10	10	3	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:21241934G>A	uc002red.2	-	20	3179	c.3051C>T	c.(3049-3051)AGC>AGT	p.S1017S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1017					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATAGGTTGCGCTGACAGAAT	0.448													A	21241934	G	A	21241934	2	1	184	1	0	0	0	0	0	0	0	1	785	1078	38	1		1	APOB	2	21241934	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	8407	21241934	221957439	19	97210											
LRPPRC	10128	broad.mit.edu	37	chr2	44139618	44139618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataatcttctgacatcagTaatttaatgagattgctgta	6	5	3	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:44139618T>G	uc002rtr.2	-	30	3286	c.3228A>C	c.(3226-3228)TTA>TTC	p.L1076F	LRPPRC_uc010yob.1_Missense_Mutation_p.L976F	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	1076	PPR 16.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGACATCAGTAATTTAATGA	0.323													G	44139618	T	G	44139618	3	3	184	1	0	0	0	0	1	0	0	0	8965	1635	57	5	992	5	LRPPRC	2	44139618	Missense_Mutation	SNP	T	TCGA-CG-4477-01A-01D-1158-08	22897684	44139618	199059755	20	97211											
NRXN1	9378	broad.mit.edu	37	chr2	50765393	50765393	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggttttagaatcctacctCtctcacaggacctgccaaga	9	12	2	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:50765393C>G	uc010fbq.2	-	10	3738	c.2261G>C	c.(2260-2262)AGA>ACA	p.R754T	NRXN1_uc002rxb.3_Missense_Mutation_p.R386T|NRXN1_uc002rxe.3_Missense_Mutation_p.R714T|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATCCTACCTCTCTCACAGGA	0.448													G	50765393	C	G	50765393	3	3	184	1	0	0	0	0	1	0	0	0	10665	913	32	5	2701	5	NRXN1	2	50765393	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	6625775	50765393	192433980	21	97212											
C2orf42	54980	broad.mit.edu	37	chr2	70377543	70377544	+	Frame_Shift_Ins	INS	-	-	GGCC													caagggctggtccaagggggINSgccgctggtcttggtactcc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:70377542_70377543G>GGGCC	uc002sgh.3	-	9	1998_1999	c.1670_1671C>GGCCC	c.(1669-1671)cccfs	p.P557fs		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	557										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GGTCCAAGGGGGGCCGCTGGTC	0.51													GGCC	70377544	-	GGCC	70377543	7	5	184	1	0	1	1	0	0	0	0	0	2166	1232	43	0	58	0	C2orf42	2	70377543	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	19612150	70377543	172821830	22	97213											
ALMS1	7840	broad.mit.edu	37	chr2	73678809	73678810	+	In_Frame_Ins	INS	-	-	ATT													ctcatatagagagaagcccaINSttgtcttctaccaacaggcc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:73678808_73678809C>CATT	uc002sje.1	+	7	5262_5263	c.5151_5152C>CATT	c.(5149-5154)cccatt>ccCATTtt	p.1717_1718PI>PI	ALMS1_uc002sjf.1_In_Frame_Ins_p.1675_1676PI>PI|ALMS1_uc002sjg.3_In_Frame_Ins_p.1105_1106PI>PI|ALMS1_uc002sjh.1_In_Frame_Ins_p.1105_1106PI>PI	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1717	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						GAGAGAAGCCCATTGTCTTCTA	0.475													ATT	73678810	-	ATT	73678809	7	5	184	1	0	1	1	0	0	0	0	0	535	217	8	0	5182	0	ALMS1	2	73678809	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	3301266	73678809	169520564	23	97214											
REEP1	65055	broad.mit.edu	37	chr2	86481815	86481816	+	Splice_Site	DEL	AC	AC	-													aagacatggcagcatatattAccttttcttttgaagatagc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:86481814_86481815TAC>T	uc021vke.1	-	4	331	c.324_splice	c.e4+1	p.K108_splice	REEP1_uc002srh.4_Splice_Site_p.K101_splice|REEP1_uc010yth.2_Splice_Site_p.K74_splice|REEP1_uc010yti.2_Intron|REEP1_uc010ytg.2_Splice_Site_p.K80_splice	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCATATATTACCTTTTCTTT	0.396													-	86481816	AC	-	86481815	8	5	184	1	0	1	0	1	0	0	1	0	13204	405	14	0	377	0	REEP1	2	86481815	Splice_Site	DEL	AC	TCGA-CG-4477-01A-01D-1158-08	12803006	86481815	156717558	24	97215											
KCNIP3	30818	broad.mit.edu	37	chr2	96040100	96040116	+	Frame_Shift_Del	DEL	GACCAGCTGCAGGCCCA	GACCAGCTGCAGGCCCA	-													gccaccagccagaggggctgGaccagctgcaggcccagacc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:96040099_96040115GGACCAGCTGCAGGCCCA>G	uc002sup.3	+	2	352_368	c.237_253GGACCAGCTGCAGGCCCA>G	c.(235-255)ctggaccagctgcaggcccagfs	p.L79fs	KCNIP3_uc002suq.3_Frame_Shift_Del_p.L53fs	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	79	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.Q83Q(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CAGAGGGGCTGGACCAGCTGCAGGCCCAGACCAAGTT	0.608													-	96040116	GACCAGCTGCAGGCCCA	-	96040100	7	5	184	1	0	1	0	1	0	0	0	0	8041	1174	41	0	355	0	KCNIP3	2	96040100	Frame_Shift_Del	DEL	GACCAGCTGCAGGCCCA	TCGA-CG-4477-01A-01D-1158-08	9558285	96040100	147159273	25	97216											
POLR1B	84172	broad.mit.edu	37	chr2	113331235	113331236	+	Frame_Shift_Ins	INS	-	-	A													aaaaattaaacaaggagataINSgtagcctggtgtttggcatc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:113331234_113331235T>TA	uc002thw.2	+	13	2947_2948	c.2367_2368T>TA	c.(2365-2370)gatagtfs	p.D789fs	POLR1B_uc010fkn.2_Frame_Shift_Ins_p.D733fs|POLR1B_uc002thx.2_Frame_Shift_Ins_p.D650fs|POLR1B_uc010fko.2_Frame_Shift_Ins_p.D606fs|POLR1B_uc010fkp.2_Frame_Shift_Ins_p.D228fs|POLR1B_uc002thy.2_Frame_Shift_Ins_p.D650fs|POLR1B_uc010yxo.1_Frame_Shift_Ins_p.D566fs	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	789					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						AACAAGGAGATAGTAGCCTGGT	0.46													A	113331236	-	A	113331235	7	5	184	1	0	1	1	0	0	0	0	0	12210	420	15	0	2422	0	POLR1B	2	113331235	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	17291135	113331235	129868138	26	97217											
MAP1D	254042	broad.mit.edu	37	chr2	172926348	172926348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacacagtatagttttgCcggctgcagtttcttcagct	8	10	3	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:172926348C>T	uc002uhk.2	+	2	236	c.163C>T	c.(163-165)CCG>TCG	p.P55S	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	55					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TATAGTTTTGCCGGCTGCAGT	0.398													T	172926348	C	T	172926348	3	4	184	1	0	0	0	0	1	0	0	0	9229	739	26	2	169	2	MAP1D	2	172926348	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	59595113	172926348	70273025	27	97218											
CHRNA1	1134	broad.mit.edu	37	chr2	175622707	175622707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaaacaaaggaactccCaaagtcacgcagctggggcg	12	10	1	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:175622707C>A	uc002ujd.2	-	4	354	c.276G>T	c.(274-276)TTG>TTT	p.L92F	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Intron|CHRNA1_uc002ujf.3_Intron	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	92	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						aaggaactcccaaagtcacgc	0.174													A	175622707	C	A	175622707	3	1	184	1	0	0	0	0	1	0	0	0	3381	593	21	5	1200	5	CHRNA1	2	175622707	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	2696359	175622707	67576666	28	97219											
TTN	7273	broad.mit.edu	37	chr2	179422480	179422480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctcctgtggtcagttTcatgactttcatcatggttc	7	10	6	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:179422480T>G	uc010zfg.1	-	277	80121	c.79897A>C	c.(79897-79899)AAA>CAA	p.K26633Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20328Q|TTN_uc010zfi.1_Missense_Mutation_p.K20261Q|TTN_uc010zfj.1_Missense_Mutation_p.K20136Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27560							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTCAGTTTCATGACTTTC	0.418													G	179422480	T	G	179422480	3	3	184	1	0	0	0	0	1	0	0	0	16732	1792	62	5	20518	5	TTN	2	179422480	Missense_Mutation	SNP	T	TCGA-CG-4477-01A-01D-1158-08	3799773	179422480	63776893	29	97220											
ALS2	57679	broad.mit.edu	37	chr2	202626189	202626190	+	Frame_Shift_Ins	INS	-	-	GGTA													tgagacccaactgacaaccgINSgtaccccatgcccaaatctc					rs35097965		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:202626188_202626189C>CGGTA	uc002uyo.3	-	3	884_885	c.528_529G>TACCG	c.(526-531)accggtfs	p.T176fs	ALS2_uc002uyp.4_Frame_Shift_Ins_p.T176fs|ALS2_uc002uyq.3_Frame_Shift_Ins_p.T176fs|ALS2_uc002uyr.3_Frame_Shift_Ins_p.T176fs	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	176					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity	p.T176T(3)		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						AACTGACAACCGGTACCCCATG	0.53													GGTA	202626190	-	GGTA	202626189	7	5	184	1	0	1	1	0	0	0	0	0	550	1103	39	0	4647	0	ALS2	2	202626189	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	23203709	202626189	40573184	30	97221											
SH3BP4	23677	broad.mit.edu	37	chr2	235951699	235951699	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctccgtgaggaccctgctCatggagaacatcagcagctg	12	13	2	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr2:235951699C>A	uc002vvp.2	+	4	2679	c.2286C>A	c.(2284-2286)CTC>CTA	p.L762L	SH3BP4_uc010fym.2_Silent_p.L762L|SH3BP4_uc002vvq.2_Silent_p.L762L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	762					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		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)		GGACCCTGCTCATGGAGAACA	0.627													A	235951699	C	A	235951699	2	1	184	1	0	0	0	0	0	0	0	1	14246	813	29	5		5	SH3BP4	2	235951699	Silent	SNP	C	TCGA-CG-4477-01A-01D-1158-08	33325510	235951699	7247674	31	97222											
OGG1	4968	broad.mit.edu	37	chr3	9792012	9792016	+	Frame_Shift_Del	DEL	TACTC	TACTC	-													cccaggcgcatggggcatcgTactctagcctccactcctgc					rs144091991		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:9792011_9792015GTACTC>G	uc003bsi.3	+	0	384_388	c.41_45GTACTC>G	c.(40-45)cgtactfs	p.R14fs	OGG1_uc003bsj.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsh.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsl.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsk.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsm.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsn.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bso.3_Frame_Shift_Del_p.R14fs|OGG1_uc003bsr.2_5'Flank|OGG1_uc010hcm.2_5'Flank|OGG1_uc003bsq.2_5'Flank|OGG1_uc003bsp.2_5'Flank	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	14					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATGGGGCATCGTACTCTAGCCTCCA	0.659								Base excision repair (BER), DNA glycosylases					-	9792016	TACTC	-	9792012	7	5	184	1	0	1	0	1	0	0	0	0	10845	1625	57	0	44	0	OGG1	3	9792012	Frame_Shift_Del	DEL	TACTC	TCGA-CG-4477-01A-01D-1158-08		9792012	188230418	32	97223											
ITGA9	3680	broad.mit.edu	37	chr3	37821477	37821478	+	Frame_Shift_Ins	INS	-	-	ATTT													agaaagtcgtactatagacaINStttacatgctgctgaacaca							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:37821476_37821477C>CATTT	uc003chd.3	+	24	2804_2805	c.2751_2752C>CATTT	c.(2749-2754)gacattfs	p.D917fs		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	917					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)		GTACTATAGACATTTACATGCT	0.381													ATTT	37821478	-	ATTT	37821477	7	5	184	1	0	1	1	0	0	0	0	0	7883	217	8	0	2850	0	ITGA9	3	37821477	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	28029465	37821477	160200953	33	97224											
SMARCC1	6599	broad.mit.edu	37	chr3	47730865	47730876	+	Splice_Site	DEL	CTGAATTGTTAC	CTGAATTGTTAC	-													ctctctcacaccaggcttaaCtgaattgttacctttcctcc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:47730864_47730875ACTGAATTGTTAC>A	uc003crq.2	-	13	1381	c.1263_splice	c.e13+1	p.K421_splice	SMARCC1_uc011bbd.1_Splice_Site_p.K312_splice	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	421					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	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)		ACCAGGCTTAACTGAATTGTTACCTTTCCTCC	0.41													-	47730876	CTGAATTGTTAC	-	47730865	8	5	184	1	0	1	0	1	0	0	1	0	14775	580	20	0		0	SMARCC1	3	47730865	Splice_Site	DEL	CTGAATTGTTAC	TCGA-CG-4477-01A-01D-1158-08	9909388	47730865	150291565	34	97225											
SLC25A20	788	broad.mit.edu	37	chr3	48896993	48896993	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttttcctcacctcttTccctccggagtgaagatatt	6	11	2	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:48896993T>A	uc003cva.3	-	6	778	c.603A>T	c.(601-603)GGA>GGT	p.G201G	SLC25A20_uc011bbw.1_Silent_p.G151G|SLC25A20_uc010hkj.2_Silent_p.G128G	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	201	Cytoplasmic (Potential).				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTCACCTCTTTCCCTCCGGAG	0.433													A	48896993	T	A	48896993	2	1	184	1	0	0	0	0	0	0	0	1	14483	1770	62	5		5	SLC25A20	3	48896993	Silent	SNP	T	TCGA-CG-4477-01A-01D-1158-08	1166128	48896993	149125437	35	97226											
RAB6B	51560	broad.mit.edu	37	chr3	133553468	133553468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccattccgggtagagccgaCgccacacgtcgaaaaagctg	11	13	0	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:133553468C>A	uc003epy.2	-	7	894	c.513G>T	c.(511-513)GCG>GCT	p.A171A	RAB6B_uc011blu.1_Silent_p.A158A	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	171					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						GTAGAGCCGACGCCACACGTC	0.502													A	133553468	C	A	133553468	2	1	184	1	0	0	0	0	0	0	0	1	12952	523	19	5		5	RAB6B	3	133553468	Silent	SNP	C	TCGA-CG-4477-01A-01D-1158-08	84656475	133553468	64468962	36	97227											
ESYT3	83850	broad.mit.edu	37	chr3	138189826	138189841	+	Frame_Shift_Del	DEL	CTCAGGCCTGGACAGC	CTCAGGCCTGGACAGC	-													cagcgctttcagctggaccaCtcaggcctggacagcctcat							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:138189825_138189840ACTCAGGCCTGGACAGC>A	uc003esk.3	+	16	1923_1938	c.1697_1712ACTCAGGCCTGGACAGC>A	c.(1696-1713)cactcaggcctggacagcfs	p.H566fs	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	566						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CAGCTGGACCACTCAGGCCTGGACAGCCTCATCTCC	0.597													-	138189841	CTCAGGCCTGGACAGC	-	138189826	7	5	184	1	0	1	0	1	0	0	0	0	5266	564	20	0	1764	0	ESYT3	3	138189826	Frame_Shift_Del	DEL	CTCAGGCCTGGACAGC	TCGA-CG-4477-01A-01D-1158-08	4636358	138189826	59832604	37	97228											
TM4SF1	4071	broad.mit.edu	37	chr3	149093466	149093467	+	Splice_Site	INS	-	-	C													accagggcaggaggacctacINScgcacatcgtttgccacagt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:149093465_149093466A>AC	uc003exb.1	-	2	501	c.267_splice	c.e2+1	p.A89_splice	TM4SF1_uc003exc.1_5'UTR	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	89						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGGAGGACCTACCGCACATCGT	0.52													C	149093467	-	C	149093466	8	5	184	1	0	1	1	0	0	0	1	0	15963	521	18	0	356	0	TM4SF1	3	149093466	Splice_Site	INS	-	TCGA-CG-4477-01A-01D-1158-08	10903640	149093466	48928964	38	97229											
GFM1	85476	broad.mit.edu	37	chr3	158364022	158364023	+	Frame_Shift_Del	DEL	TA	TA	-													gagagacaaagaggaatcacTattcagtcagcagccactta							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:158364021_158364022CTA>C	uc003fce.3	+	2	409_410	c.302_303CTA>C	c.(301-303)actfs	p.T101fs	GFM1_uc003fcd.3_Frame_Shift_Del_p.T101fs|GFM1_uc003fcg.3_Frame_Shift_Del_p.T13fs	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	101					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)			AGAGGAATCACTATTCAGTCAG	0.401													-	158364023	TA	-	158364022	7	5	184	1	0	1	0	1	0	0	0	0	6341	1509	53	0	313	0	GFM1	3	158364022	Frame_Shift_Del	DEL	TA	TCGA-CG-4477-01A-01D-1158-08	9270556	158364022	39658408	39	97230											
PRKCI	5584	broad.mit.edu	37	chr3	169991093	169991099	+	Frame_Shift_Del	DEL	ATCAGTC	ATCAGTC	-													ggaaccagtgatgcccatggAtcagtcatccatgcattctg					rs71277168		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr3:169991092_169991098GATCAGTC>G	uc003fgs.2	+	6	848_854	c.610_616GATCAGTC>G	c.(610-618)gatcagtcafs	p.D204fs		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	204	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GATGCCCATGGATCAGTCATCCATGCA	0.435													-	169991099	ATCAGTC	-	169991093	7	5	184	1	0	1	0	1	0	0	0	0	12514	333	12	0	637	0	PRKCI	3	169991093	Frame_Shift_Del	DEL	ATCAGTC	TCGA-CG-4477-01A-01D-1158-08	11627071	169991093	28031337	40	97231											
C5orf42	65250	broad.mit.edu	37	chr5	37173906	37173906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatctgcctaacggactccGaacaatctggtaactgagcc	9	13	2	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:37173906G>A	uc011cpa.1	-	32	6353	c.6122C>T	c.(6121-6123)TCG>TTG	p.S2041L	C5orf42_uc011coy.1_Missense_Mutation_p.S541L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S1116L|C5orf42_uc003jkr.1_Missense_Mutation_p.S74L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2041										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AACGGACTCCGAACAATCTGG	0.403													A	37173906	G	A	37173906	3	1	184	1	0	0	0	0	1	0	0	0	2301	1059	37	1	3555	1	C5orf42	5	37173906	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08		37173906	143741354	41	97232											
PPAP2A	8611	broad.mit.edu	37	chr5	54763748	54763749	+	Frame_Shift_Ins	INS	-	-	TA													acatatgtagtattcaatgtINSaaccatcgctgcagttgatt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:54763747_54763748G>GTA	uc003jpz.3	-	2	859_860	c.443_444C>TAC	c.(442-444)tacfs	p.Y148fs	PPAP2A_uc003jqa.3_Frame_Shift_Ins_p.Y147fs|PPAP2A_uc003jqb.3_Non-coding_Transcript	NM_176895	NP_795714	O14494	LPP1_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2A (PPAP2A), transcript variant 2, mRNA.	147					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)				AGTATTCAATGTAACCATCGCT	0.406													TA	54763749	-	TA	54763748	7	5	184	1	0	1	1	0	0	0	0	0	12290	1638	57	0	430	0	PPAP2A	5	54763748	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	17589842	54763748	126151512	42	97233											
SFRS12	140890	broad.mit.edu	37	chr5	65465970	65465970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctaaatcaagggagagaCggaagtcaaggagtcgttcg	14	7	3	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:65465970C>T	uc003juo.2	+	9	1405	c.745C>T	c.(745-747)CGG>TGG	p.R249W	SFRS12_uc003jun.2_Missense_Mutation_p.R365W|SFRS12_uc010iwy.2_Missense_Mutation_p.R249W	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	249	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		AAGGGAGAGACGGAAGTCAAG	0.368													T	65465970	C	T	65465970	3	4	184	1	0	0	0	0	1	0	0	0	14167	527	19	1	1123	1	SFRS12	5	65465970	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	10702222	65465970	115449290	43	97234											
TRPC7	57113	broad.mit.edu	37	chr5	135692752	135692752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggccagcagcagcgcGtcccccacccgtgccaggtt	12	17	0	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:135692752G>A	uc003lbn.1	-	1	324	c.321C>T	c.(319-321)GAC>GAT	p.D107D	TRPC7_uc010jef.1_Silent_p.D99D|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.D99D|TRPC7_uc010jei.1_Silent_p.D99D|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	108	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCAGCGCGTCCCCCACCC	0.667													A	135692752	G	A	135692752	2	1	184	1	0	0	0	0	0	0	0	1	16581	1136	40	1		1	TRPC7	5	135692752	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	70226782	135692752	45222508	44	97235											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139838894	139838894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacacctctgatggaggcAtctcaggagggacacctgga	12	12	2	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:139838894A>G	uc003lfs.1	+	9	1750	c.1626A>G	c.(1624-1626)GCA>GCG	p.A542A	ANKHD1_uc003lfq.1_Silent_p.A542A|ANKHD1_uc003lfr.2_Silent_p.A542A|ANKHD1_uc003lft.1_Silent_p.A3A|ANKHD1_uc003lfu.1_Silent_p.A3A|ANKHD1_uc003lfp.2_Silent_p.A531A|ANKHD1_uc003lfo.2_Silent_p.A542A|ANKHD1_uc010jfk.2_Silent_p.A542A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	542						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGGAGGCATCTCAGGAGG	0.383													G	139838894	A	G	139838894	2	3	184	1	0	0	0	0	0	0	0	1	629	204	8	3		3	ANKHD1-EIF4EBP3	5	139838894	Silent	SNP	A	TCGA-CG-4477-01A-01D-1158-08	4146142	139838894	41076366	45	97236											
TMCO6	55374	broad.mit.edu	37	chr5	140021541	140021542	+	Frame_Shift_Ins	INS	-	-	AGCT													gcggctcggtgcctgcatgaINSgctctctcactccgagcagt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:140021540_140021541G>GAGCT	uc003lgm.3	+	3	501_502	c.400_401G>GAGCT	c.(400-402)gagfs	p.E134fs	TMCO6_uc011czj.1_3'UTR|TMCO6_uc003lgl.3_Frame_Shift_Ins_p.E134fs|TMCO6_uc010jft.3_Intron|TMCO6_uc003lgn.3_Frame_Shift_Ins_p.E25fs|TMCO6_uc003lgo.3_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	134					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)			GTGCCTGCATGAGCTCTCTCAC	0.604													AGCT	140021542	-	AGCT	140021541	7	5	184	1	0	1	1	0	0	0	0	0	15997	304	11	0	415	0	TMCO6	5	140021541	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	182647	140021541	40893719	46	97237											
KIAA0141	9812	broad.mit.edu	37	chr5	141305001	141305006	+	In_Frame_Del	DEL	GCGGGG	GCGGGG	-													tccccatggcccaggcacgaGcgggggtccaaggtcccatg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:141305000_141305005AGCGGGG>A	uc003lls.3	+	2	294_299	c.172_177AGCGGGG>A	c.(172-177)agcggg>A	p.SG58del	KIAA0141_uc003llt.3_In_Frame_Del_p.SG58del	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	58					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGCACGAGCGGGGGTCCAAGGT	0.578													-	141305006	GCGGGG	-	141305001	7	5	184	1	0	1	0	1	0	0	0	0	8156	971	34	0	183	0	KIAA0141	5	141305001	In_Frame_Del	DEL	GCGGGG	TCGA-CG-4477-01A-01D-1158-08	1283460	141305001	39610259	47	97238											
RBM27	54439	broad.mit.edu	37	chr5	145651187	145651188	+	Frame_Shift_Ins	INS	-	-	GTTGGAG													tcgtcccaaagcactaacagINSttggaggattcattgaggaa							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:145651186_145651187A>AGTTGGAG	uc003lnz.4	+	18	3103_3104	c.2937_2938A>AGTTGGAG	c.(2935-2940)acagttfs	p.T979fs		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	979					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide 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)			AAGCACTAACAGTTGGAGGATT	0.455													GTTGGAG	145651188	-	GTTGGAG	145651187	7	5	184	1	0	1	1	0	0	0	0	0	13127	1029	36	0	3012	0	RBM27	5	145651187	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	4346186	145651187	35264073	48	97239											
CPEB4	80315	broad.mit.edu	37	chr5	173317465	173317466	+	Frame_Shift_Ins	INS	-	-	CAGC													ctcatttccagcatcatcacINSagccagcatcagcagcaaag							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr5:173317464_173317465A>ACAGC	uc003mcs.4	+	0	2134_2135	c.728_729A>ACAGC	c.(727-729)cacfs	p.H243fs	CPEB4_uc010jju.2_Frame_Shift_Ins_p.H243fs|CPEB4_uc010jjv.3_Frame_Shift_Ins_p.H243fs|CPEB4_uc011dfg.2_Frame_Shift_Ins_p.H243fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	243	His-rich.						RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCATCATCACAGCCAGCATC	0.55													CAGC	173317466	-	CAGC	173317465	7	5	184	1	0	1	1	0	0	0	0	0	3803	477	17	0	731	0	CPEB4	5	173317465	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	27666278	173317465	7597795	49	97240											
HIST1H4L	8368	broad.mit.edu	37	chr6	27840927	27840940	+	Splice_Site	DEL	GGGTGGCCCTGAGA	GGGTGGCCCTGAGA	-													agctctttcacagacttcatGggtggccctgagaagggcct					rs45509595	by1000genomes	TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:27840926_27840939TGGGTGGCCCTGAGA>T	uc003njz.3	-	1	364	c.363_splice	c.e1+1		HIST1H3I_uc003njy.3_5'Flank	NM_003546	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4l (HIST1H4L), mRNA.						CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						ACAGACTTCATGGGTGGCCCTGAGAAGGGCCTTT	0.481													-	27840940	GGGTGGCCCTGAGA	-	27840927	8	5	184	1	0	1	0	1	0	0	1	0	7176	1362	47	0		0	HIST1H4L	6	27840927	Splice_Site	DEL	GGGTGGCCCTGAGA	TCGA-CG-4477-01A-01D-1158-08		27840927	143274140	50	97241											
AGER	177	broad.mit.edu	37	chr6	32150160	32150161	+	Frame_Shift_Ins	INS	-	-	CA													tggggggaaggggcaagggcINSacaccctggtgggggaaggg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:32150159_32150160G>GCA	uc003oal.2	-	7	928_929	c.828_829C>TGC	c.(826-831)gtgcccfs	p.V276fs	AGER_uc021yvm.1_Frame_Shift_Ins_p.V189fs|AGER_uc021yvn.1_Frame_Shift_Ins_p.V175fs|AGER_uc010jtw.2_Intron|AGER_uc021yvp.1_Frame_Shift_Ins_p.V84fs|AGER_uc021yvq.1_Frame_Shift_Ins_p.V175fs|AGER_uc011dpn.2_Intron|AGER_uc011dpm.2_Frame_Shift_Ins_p.V175fs|AGER_uc003oap.2_Frame_Shift_Ins_p.V292fs|AGER_uc021yvr.1_Frame_Shift_Ins_p.V276fs|AGER_uc003oam.2_Non-coding_Transcript|AGER_uc003oau.2_Frame_Shift_Ins_p.V276fs|AGER_uc003oas.2_Intron|AGER_uc010jtv.2_Intron|AGER_uc003oar.3_Frame_Shift_Ins_p.V175fs|AGER_uc003oaq.2_Frame_Shift_Ins_p.V262fs|AGER_uc003oat.2_Frame_Shift_Ins_p.V292fs|AGER_uc003oan.2_Intron|AGER_uc011dpo.2_Intron|AGER_uc003oao.2_Intron|AGER_uc021yvo.1_Frame_Shift_Ins_p.V189fs|AGER_uc011dpp.2_Frame_Shift_Ins_p.V307fs	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	276	Ig-like C2-type 2.				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						AGGGGCAAGGGCACACCCTGGT	0.584													CA	32150161	-	CA	32150160	7	5	184	1	0	1	1	0	0	0	0	0	379	697	25	0	402	0	AGER	6	32150160	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	4309233	32150160	138964907	51	97242											
NOTCH4	4855	broad.mit.edu	37	chr6	32163246	32163246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctccttggtttatggGcatttcttggagggctgggg	14	9	2	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:32163246G>A	uc003obb.2	-	30	6119	c.5980C>T	c.(5980-5982)CCC>TCC	p.P1994S	GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'UTR|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.P654S|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1994	Cytoplasmic (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TGGTTTATGGGCATTTCTTGG	0.512													A	32163246	G	A	32163246	3	1	184	1	0	0	0	0	1	0	0	0	10551	1203	42	2	35	2	NOTCH4	6	32163246	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	13086	32163246	138951821	52	97243											
TEAD3	7005	broad.mit.edu	37	chr6	35443212	35443212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgtactcgcacatgggCgagcggtggatacggtacac	13	10	1	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:35443212C>T	uc003oku.3	-	12	1331	c.1095G>A	c.(1093-1095)TCG>TCA	p.S365S	TEAD3_uc003okt.2_Silent_p.S254S|TEAD3_uc010jvx.2_Silent_p.S305S	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	365	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCACATGGGCGAGCGGTGGA	0.562													T	35443212	C	T	35443212	2	4	184	1	0	0	0	0	0	0	0	1	15737	755	27	1		1	TEAD3	6	35443212	Silent	SNP	C	TCGA-CG-4477-01A-01D-1158-08	3279966	35443212	135671855	53	97244											
MUT	4594	broad.mit.edu	37	chr6	49399498	49399498	+	Silent	SNP	G	G	T													atatcatcaagcacctgaacGgcagcctttggaattcgagt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:49399498G>T	uc003ozg.3	-	13	2451	c.2196C>A	c.(2194-2196)GCC>GCA	p.A732A		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	732	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACCTGAACGGCAGCCTTTG	0.333													T	49399498	G	T	49399498	2	4	184	1	0	0	0	0	0	0	0	1	9991	1103	39	5		5	MUT	6	49399498	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	13956286	49399498	121715569	54	97245	484	2									
MUT	4594	broad.mit.edu	37	chr6	49399501	49399501	+	Silent	SNP	A	A	C													tcatcaagcacctgaacggcAgcctttggaattcgagtccc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:49399501A>C	uc003ozg.3	-	13	2448	c.2193T>G	c.(2191-2193)GCT>GCG	p.A731A		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	731	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGAACGGCAGCCTTTGGAA	0.338													C	49399501	A	C	49399501	2	2	184	1	0	0	0	0	0	0	0	1	9991	175	7	5		5	MUT	6	49399501	Silent	SNP	A	TCGA-CG-4477-01A-01D-1158-08	3	49399501	121715566	55	97246	484	2									
BMP5	653	broad.mit.edu	37	chr6	55638953	55638953	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcgaagaagtacctcactCgccttgaagaaggccaccat	9	12	1	3			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr6:55638953C>T	uc003pcq.2	-	4	1633	c.921G>A	c.(919-921)GCG>GCA	p.A307A	BMP5_uc011dxf.1_Silent_p.A307A	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	307					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTACCTCACTCGCCTTGAAGA	0.468													T	55638953	C	T	55638953	2	4	184	1	0	0	0	0	0	0	0	1	1463	871	31	1		1	BMP5	6	55638953	Silent	SNP	C	TCGA-CG-4477-01A-01D-1158-08	6239452	55638953	115476114	56	97247											
ABCA13	154664	broad.mit.edu	37	chr7	48313582	48313582	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatattaaaaattgtaacttGggtgttaaatataaaaaaac	5	2	0	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:48313582G>A	uc003toq.2	+	17	4344	c.4319G>A	c.(4318-4320)TGG>TAG	p.W1440*	ABCA13_uc010kyr.2_Nonsense_Mutation_p.W943*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1440					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATTGTAACTTGGGTGTTAAAT	0.269													A	48313582	G	A	48313582	4	1	184	1	0	0	0	0	0	1	0	0	31	1357	47	4	4214	4	ABCA13	7	48313582	Nonsense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08		48313582	110825081	57	97248											
CASD1	64921	broad.mit.edu	37	chr7	94184856	94184868	+	Frame_Shift_Del	DEL	TGGTACTGATACC	TGGTACTGATACC	-													agcggacacaaggggtatctTggtactgatacctggaaacc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:94184855_94184867TTGGTACTGATACC>T	uc003uni.4	+	17	2406_2418	c.2179_2191TTGGTACTGATACC>T	c.(2179-2193)ttggtactgatacctfs	p.L727fs	CASD1_uc003unj.4_Frame_Shift_Del_p.L727fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	727						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)			AAGGGGTATCTTGGTACTGATACCTGGAAACCC	0.371													-	94184868	TGGTACTGATACC	-	94184856	7	5	184	1	0	1	0	1	0	0	0	0	2664	1821	63	0	2250	0	CASD1	7	94184856	Frame_Shift_Del	DEL	TGGTACTGATACC	TCGA-CG-4477-01A-01D-1158-08	45871274	94184856	64953807	58	97249											
RELN	5649	broad.mit.edu	37	chr7	103123345	103123346	+	Frame_Shift_Ins	INS	-	-	C													acctccacatggtccaaagcINSccattgatcatgacctgttc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:103123344_103123345G>GC	uc022ajr.1	-	62	10415_10416	c.10255_10256C>GC	c.(10255-10257)gctfs	p.A3419fs	RELN_uc022ajq.1_Frame_Shift_Ins_p.A3419fs|RELN_uc010liz.3_Frame_Shift_Ins_p.A3419fs	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3419					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)		ATGGTCCAAAGCCCATTGATCA	0.48													C	103123346	-	C	103123345	7	5	184	1	0	1	1	0	0	0	0	0	13220	739	26	0	139	0	RELN	7	103123345	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	8938489	103123345	56015318	59	97250											
TES	26136	broad.mit.edu	37	chr7	115890233	115890237	+	Frame_Shift_Del	DEL	ATGCT	ATGCT	-													aggccaggcagtacatgcagAtgctacccaaggaaaagcag							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr7:115890232_115890236GATGCT>G	uc003vho.3	+	3	599_603	c.384_388GATGCT>G	c.(382-390)cagatgctafs	p.Q128fs	TES_uc011kmy.2_Intron|TES_uc003vhp.3_Frame_Shift_Del_p.Q119fs|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	128	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AGTACATGCAGATGCTACCCAAGGA	0.522													-	115890237	ATGCT	-	115890233	7	5	184	1	0	1	0	1	0	0	0	0	15762	333	12	0	399	0	TES	7	115890233	Frame_Shift_Del	DEL	ATGCT	TCGA-CG-4477-01A-01D-1158-08	12766888	115890233	43248430	60	97251											
CSMD1	64478	broad.mit.edu	37	chr8	3165968	3165968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtaaagtggccttcatcaCggatcctatagccgtagtta	10	10	2	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:3165968C>T	uc011kwk.1	-	24	4082	c.3692G>A	c.(3691-3693)CGT>CAT	p.R1231H	CSMD1_uc011kwj.1_Missense_Mutation_p.R623H|CSMD1_uc003wqe.2_Missense_Mutation_p.R387H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1231	Extracellular (Potential).|Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCTTCATCACGGATCCTATA	0.512													T	3165968	C	T	3165968	3	4	184	1	0	0	0	0	1	0	0	0	3944	536	19	1	7193	1	CSMD1	8	3165968	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08		3165968	143198054	61	97252											
ERI1	90459	broad.mit.edu	37	chr8	8887409	8887410	+	In_Frame_Ins	INS	-	-	AGC													ctaagaatatcgcccgaataINSgcagttcgaatgcttcagga							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:8887408_8887409T>TAGC	uc003wsk.2	+	6	1174_1175	c.914_915T>TAGC	c.(913-915)ata>aTAGC	p.I305I		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	305	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding	p.R304R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	ATCGCCCGAATAGCAGTTCGAA	0.446													AGC	8887410	-	AGC	8887409	7	5	184	1	0	1	1	0	0	0	0	0	5227	410	15	0	941	0	ERI1	8	8887409	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	5721441	8887409	137476613	62	97253											
KCNU1	157855	broad.mit.edu	37	chr8	36768479	36768479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattctggagacctccatgCggccaacatagagcaatgct	9	11	1	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:36768479C>T	uc010lvw.2	+	22	2450	c.2363C>T	c.(2362-2364)GCG>GTG	p.A788V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	788	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACCTCCATGCGGCCAACATA	0.522													T	36768479	C	T	36768479	3	4	184	1	0	0	0	0	1	0	0	0	8093	768	27	1	2449	1	KCNU1	8	36768479	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	27881070	36768479	109595543	63	97254											
ESRP1	54845	broad.mit.edu	37	chr8	95705056	95705059	+	Splice_Site	DEL	GTCA	GTCA	-													acttcttccaaggttaccagGtcagtagcttgaaggagaat							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:95705055_95705058GGTCA>G	uc003ygq.4	+	14	2154	c.1971_splice	c.e14+1	p.Q657_splice	ESRP1_uc003ygr.4_Splice_Site_p.Q653_splice|ESRP1_uc003ygs.4_Splice_Site_p.Q653_splice|ESRP1_uc003ygt.4_Intron|ESRP1_uc003ygu.4_Intron|ESRP1_uc003ygv.3_Splice_Site_p.Q497_splice|ESRP1_uc003ygw.3_Intron	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	657					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAGGTTACCAGGTCAGTAGCTTGA	0.456													-	95705059	GTCA	-	95705056	8	5	184	1	0	1	0	1	0	0	1	0	5258	1275	44	0	2026	0	ESRP1	8	95705056	Splice_Site	DEL	GTCA	TCGA-CG-4477-01A-01D-1158-08	58936577	95705056	50658966	64	97255											
EFR3A	23167	broad.mit.edu	37	chr8	132980566	132980566	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtattctcaccatgtgatcCaggagattctaggacacctt	8	10	2	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:132980566C>G	uc003yte.2	+	9	1081	c.880C>G	c.(880-882)CAG>GAG	p.Q294E		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	294						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	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)			CCATGTGATCCAGGAGATTCT	0.413													G	132980566	C	G	132980566	3	3	184	1	0	0	0	0	1	0	0	0	4958	595	21	5	914	5	EFR3A	8	132980566	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	37275510	132980566	13383456	65	97256											
SLC45A4	57210	broad.mit.edu	37	chr8	142228731	142228731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggggtaggaggcgtcGtggaagatggagggctcgat	22	5	0	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr8:142228731G>A	uc003ywd.1	-	4	1163	c.855C>T	c.(853-855)CAC>CAT	p.H285H	SLC45A4_uc003ywc.1_Silent_p.H285H|SLC45A4_uc010meq.1_Silent_p.H283H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	336					transport	integral to membrane				ovary(2)	2	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)			AGGAGGCGTCGTGGAAGATGG	0.677													A	142228731	G	A	142228731	2	1	184	1	0	0	0	0	0	0	0	1	14643	1136	40	1		1	SLC45A4	8	142228731	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	9248165	142228731	4135291	66	97257											
TAF1L	138474	broad.mit.edu	37	chr9	32633408	32633412	+	Frame_Shift_Del	DEL	TATAA	TATAA	-													atctttgccaggtttccgttTataatagttctttatcttgg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:32633407_32633411TTATAA>T	uc003zrg.1	-	0	2257_2261	c.2167_2171TTATAA>A	c.(2167-2172)tataaafs	p.Y723fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	723					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|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			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)		AGGTTTCCGTTTATAATAGTTCTTT	0.429													-	32633412	TATAA	-	32633408	7	5	184	1	0	1	0	1	0	0	0	0	15520	1763	61	0	3314	0	TAF1L	9	32633408	Frame_Shift_Del	DEL	TATAA	TCGA-CG-4477-01A-01D-1158-08		32633408	108580023	67	97258											
STOML2	30968	broad.mit.edu	37	chr9	35102750	35102751	+	In_Frame_Ins	INS	-	-	AGT													ctcctgctgcggcacgaacaINSgtaccacggtgtttcggggc					rs139960088	byFrequency	TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:35102749_35102750C>CAGT	uc003zwi.3	-	1	179_180	c.116_117G>ACTG	c.(115-117)ctg>cACTG	p.L39H	STOML2_uc011lou.2_In_Frame_Ins_p.L39H	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	39						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)			GCGGCACGAACAGTACCACGGT	0.644													AGT	35102751	-	AGT	35102750	7	5	184	1	0	1	1	0	0	0	0	0	15313	188	7	0	990	0	STOML2	9	35102750	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	2469342	35102750	106110681	68	97259											
OR2S2	56656	broad.mit.edu	37	chr9	35957640	35957642	+	In_Frame_Del	DEL	AAT	AAT	-													accacggaagcagcaccaccAatagcccaggagctggcagc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:35957639_35957641CAAT>C	uc011lpi.2	-	0	511_513	c.455_457ATTG>G	c.(454-459)attggt>aGgt	p.152_153IG>R		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	152					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)			GCAGCACCACCAATAGCCCAGGA	0.532													-	35957642	AAT	-	35957640	7	5	184	1	0	1	0	1	0	0	0	0	11015	126	5	0	507	0	OR2S2	9	35957640	In_Frame_Del	DEL	AAT	TCGA-CG-4477-01A-01D-1158-08	854890	35957640	105255791	69	97260											
ZNF484	83744	broad.mit.edu	37	chr9	95608610	95608610	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagatttctgaggcataCtgagttgtggcttccagttt	11	7	2	3			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:95608610C>G	uc004asu.1	-	5	2608	c.2459G>C	c.(2458-2460)AGT>ACT	p.S820T	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.S822T|ZNF484_uc010mrb.1_Missense_Mutation_p.S784T|ZNF484_uc004asv.1_Missense_Mutation_p.S784T	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGAGGCATACTGAGTTGTGG	0.423													G	95608610	C	G	95608610	3	3	184	1	0	0	0	0	1	0	0	0	17934	565	20	5	103	5	ZNF484	9	95608610	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	59650970	95608610	45604821	70	97261											
WNK2	65268	broad.mit.edu	37	chr9	96030932	96030933	+	Frame_Shift_Ins	INS	-	-	T													gcacaccgggaagaggtggtINStcatcatctgtccggtggct							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:96030931_96030932G>GT	uc004ati.1	+	17	3936_3937	c.3936_3937G>GT	c.(3934-3939)tggttcfs	p.W1312fs	WNK2_uc011lud.1_Frame_Shift_Ins_p.W1312fs|WNK2_uc004atj.3_Frame_Shift_Ins_p.W1312fs|WNK2_uc004atk.3_Frame_Shift_Ins_p.W949fs	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1312					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						GGAAGAGGTGGTTCATCATCTG	0.619													T	96030933	-	T	96030932	7	5	184	1	0	1	1	0	0	0	0	0	17375	1725	60	0	4007	0	WNK2	9	96030932	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	422322	96030932	45182499	71	97262											
KLF4	9314	broad.mit.edu	37	chr9	110248112	110248113	+	In_Frame_Ins	INS	-	-	GGT													ttttggcactggaacgggcgINSgtgccccgtgtgtttacggt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:110248111_110248112C>CGGT	uc004bdh.3	-	3	2056_2057	c.1435_1436G>ACCG	c.(1435-1437)cgc>ACCGc	p.R479T	KLF4_uc004bdf.2_In_Frame_Ins_p.R404T|KLF4_uc022blk.1_In_Frame_Ins_p.R120T|KLF4_uc004bdg.3_In_Frame_Ins_p.R454T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	488	Interaction with target DNA (By similarity).				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	p.R445C(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CTGGAACGGGCGGTGCCCCGTG	0.53													GGT	110248113	-	GGT	110248112	7	5	184	1	0	1	1	0	0	0	0	0	8348	1116	39	0	83	0	KLF4	9	110248112	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	14217180	110248112	30965319	72	97263											
C9orf50	375759	broad.mit.edu	37	chr9	132375476	132375477	+	In_Frame_Ins	INS	-	-	GCT													tccatgaacagaagggcaggINSctgctgttcatggaggtgtc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr9:132375475_132375476G>GGCT	uc004byc.4	-	5	1300_1301	c.1098_1099C>AGCC	c.(1096-1101)agcctg>agAGCCtg	p.366_367SL>RA	C9orf50_uc022boo.1_In_Frame_Ins_p.365_366SL>RA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	366										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CAGAAGGGCAGGCTGCTGTTCA	0.609													GCT	132375477	-	GCT	132375476	7	5	184	1	0	1	1	0	0	0	0	0	2487	1194	42	0	205	0	C9orf50	9	132375476	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	22127364	132375476	8837955	73	97264											
CELF2	10659	broad.mit.edu	37	chr10	11060090	11060095	+	In_Frame_Del	DEL	TGATGG	TGATGG	-													gctggatttcctcccggacaTgatggtcgagggccgcctgc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:11060089_11060094ATGATGG>A	uc001ikk.2	+	0	197_202	c.37_42ATGATGG>A	c.(37-42)atgatg>A	p.MM13del	CELF2_uc010qbi.2_Intron|CELF2_uc010qbj.1_Intron|CELF2_uc001iki.4_Intron|CELF2_uc001ikl.4_In_Frame_Del_p.MM13del	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	0	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CCTCCCGGACATGATGGTCGAGGGCC	0.733													-	11060095	TGATGG	-	11060090	7	5	184	1	0	1	0	1	0	0	0	0	3216	1464	51	0	97	0	CELF2	10	11060090	In_Frame_Del	DEL	TGATGG	TCGA-CG-4477-01A-01D-1158-08		11060090	124474657	74	97265											
SPAG6	9576	broad.mit.edu	37	chr10	22657513	22657513	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatagtcgattgtggagcActggatacgctggtcatatg	13	7	1	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:22657513A>C	uc001iri.2	+	4	520	c.378A>C	c.(376-378)GCA>GCC	p.A126A	SPAG6_uc001irj.2_Silent_p.A126A|SPAG6_uc010qct.1_Silent_p.A96A|SPAG6_uc009xkh.2_Silent_p.A104A	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	126	ARM 3.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						ATTGTGGAGCACTGGATACGC	0.478													C	22657513	A	C	22657513	2	2	184	1	0	0	0	0	0	0	0	1	14982	146	6	5		5	SPAG6	10	22657513	Silent	SNP	A	TCGA-CG-4477-01A-01D-1158-08	11597423	22657513	112877234	75	97266											
HKDC1	80201	broad.mit.edu	37	chr10	70986988	70986989	+	Frame_Shift_Ins	INS	-	-	GGCT													aggttcctgtatcacatgcgINSgctctccgatgacacccttt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:70986987_70986988C>CGGCT	uc001jpf.4	+	1	221_222	c.88_89C>CGGCT	c.(88-90)cggfs	p.R30fs		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	30					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTATCACATGCGGCTCTCCGAT	0.614													GGCT	70986989	-	GGCT	70986988	7	5	184	1	0	1	1	0	0	0	0	0	7193	1116	39	0	95	0	HKDC1	10	70986988	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	48329475	70986988	64547759	76	97267											
COX15	1355	broad.mit.edu	37	chr10	101483725	101483725	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcttaccttgtgcggaggGagtagcagtgacagtgaggt	15	7	1	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:101483725G>A	uc001kqb.3	-	5	1355	c.738C>T	c.(736-738)CTC>CTT	p.L246L	COX15_uc001kqc.3_Silent_p.L246L|COX15_uc010qpj.1_Silent_p.L67L	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	246	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGTGCGGAGGGAGTAGCAGTG	0.338													A	101483725	G	A	101483725	2	1	184	1	0	0	0	0	0	0	0	1	3764	1161	41	4		4	COX15	10	101483725	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	30496737	101483725	34051022	77	97268											
HSPA12A	259217	broad.mit.edu	37	chr10	118434813	118434813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgggggatgatgatccGgcactggtccccaaaagcag	14	11	0	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr10:118434813G>A	uc001lct.2	-	12	1612	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W	HSPA12A_uc001lcu.2_Missense_Mutation_p.R420W	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	503							ATP binding			ovary(1)	1				all cancers(201;0.0158)		ATGATGATCCGGCACTGGTCC	0.672													A	118434813	G	A	118434813	3	1	184	1	0	0	0	0	1	0	0	0	7404	1115	39	1	524	1	HSPA12A	10	118434813	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	16951088	118434813	17099934	78	97269											
OR4C16	219428	broad.mit.edu	37	chr11	55339628	55339628	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactgaataataatgtgactGagttcattctgcttggattg	9	5	2	3			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:55339628G>A	uc010rih.1	+	1	25	c.25G>A	c.(25-27)GAG>AAG	p.E9K		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				TAATGTGACTGAGTTCATTCT	0.373													A	55339628	G	A	55339628	3	1	184	1	0	0	0	0	1	0	0	0	11049	1291	45	4	27	4	OR4C16	11	55339628	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08		55339628	79666888	79	97270											
GLYATL1	92292	broad.mit.edu	37	chr11	58722252	58722255	+	Frame_Shift_Del	DEL	GATG	GATG	-													atccaatacaggagatgactGatgacatggattcatacaca							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:58722251_58722254TGATG>T	uc001nnh.2	+	4	338_341	c.288_291TGATG>T	c.(286-291)actgatfs	p.T96fs	GLYATL1_uc001nnf.3_Frame_Shift_Del_p.T65fs|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Frame_Shift_Del_p.T65fs|GLYATL1_uc001nnj.2_Frame_Shift_Del_p.T65fs	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	65						mitochondrion	glycine N-acyltransferase activity	p.D97G(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGGAGATGACTGATGACATGGATT	0.353													-	58722255	GATG	-	58722252	7	5	184	1	0	1	0	1	0	0	0	0	6480	1290	45	0	307	0	GLYATL1	11	58722252	Frame_Shift_Del	DEL	GATG	TCGA-CG-4477-01A-01D-1158-08	3382624	58722252	76284264	80	97271											
RASGRP2	10235	broad.mit.edu	37	chr11	64510268	64510268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccgagccactcaccgAaggcttcgatgcacccgcgg	10	19	1	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:64510268A>G	uc009ypu.2	-	2	298	c.71T>C	c.(70-72)TTC>TCC	p.F24S	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Missense_Mutation_p.F24S|RASGRP2_uc009ypw.2_Missense_Mutation_p.F24S|RASGRP2_uc001oaw.1_Missense_Mutation_p.S327P	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	24	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						CCACTCACCGAAGGCTTCGAT	0.726													G	64510268	A	G	64510268	3	3	184	1	0	0	0	0	1	0	0	0	13075	246	9	3	1818	3	RASGRP2	11	64510268	Missense_Mutation	SNP	A	TCGA-CG-4477-01A-01D-1158-08	5788016	64510268	70496248	81	97272											
SF3B2	10992	broad.mit.edu	37	chr11	65820189	65820190	+	Frame_Shift_Ins	INS	-	-	AGGT													ctgcagagctacacccgccaINSggtaggtgttggcggcggga							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:65820188_65820189C>CAGGT	uc001ogy.1	+	1	218_219	c.178_179C>CAGGT	c.(178-180)cagfs	p.Q60fs	SF3B2_uc001ogx.1_Frame_Shift_Ins_p.Q60fs	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	60					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	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						CTACACCCGCCAGGTAGGTGTT	0.609													AGGT	65820190	-	AGGT	65820189	7	5	184	1	0	1	1	0	0	0	0	0	14151	202	7	0	185	0	SF3B2	11	65820189	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	1309921	65820189	69186327	82	97273											
C2CD3	26005	broad.mit.edu	37	chr11	73803566	73803567	+	Frame_Shift_Ins	INS	-	-	C													tgctgggtggttaccatagcINSacagatccttgataatggca							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:73803565_73803566G>GC	uc001ouu.2	-	18	3639_3640	c.3412_3413C>GC	c.(3412-3414)gctfs	p.A1138fs		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1138						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)					GGTTACCATAGCACAGATCCTT	0.446													C	73803567	-	C	73803566	7	5	184	1	0	1	1	0	0	0	0	0	2154	710	25	0	2531	0	C2CD3	11	73803566	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	7983377	73803566	61202950	83	97274											
PGM2L1	283209	broad.mit.edu	37	chr11	74109136	74109142	+	Frame_Shift_Del	DEL	TGAGGGT	TGAGGGT	-													gcccgatggccgtgtccagcTgagggtccccggtgtggtag							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:74109135_74109141CTGAGGGT>C	uc001ovb.1	-	0	362_368	c.66_72ACCCTCAG>G	c.(64-72)gaccctcagfs	p.D22fs		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	22					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)					CCGTGTCCAGCTGAGGGTCCCCGGTGT	0.671													-	74109142	TGAGGGT	-	74109136	7	5	184	1	0	1	0	1	0	0	0	0	11799	1580	55	0	1853	0	PGM2L1	11	74109136	Frame_Shift_Del	DEL	TGAGGGT	TCGA-CG-4477-01A-01D-1158-08	305570	74109136	60897380	84	97275											
PAK1	5058	broad.mit.edu	37	chr11	77070042	77070042	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actggtggcactgcaggagtCtcagacacagccttcacatt	10	12	2	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:77070042C>G	uc001oyh.3	-	6	1031	c.498G>C	c.(496-498)GAG>GAC	p.E166D	PAK1_uc010rso.1_Missense_Mutation_p.E68D|PAK1_uc001oyg.3_Missense_Mutation_p.E166D|PAK1_uc001oyi.1_Missense_Mutation_p.E166D|PAK1_uc010rsn.1_5'UTR	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	166	Interaction with CRIPAK.				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			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					CTGCAGGAGTCTCAGACACAG	0.443													G	77070042	C	G	77070042	3	3	184	1	0	0	0	0	1	0	0	0	11399	912	32	5	1232	5	PAK1	11	77070042	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	2960906	77070042	57936474	85	97276											
FOLH1B	219595	broad.mit.edu	37	chr11	89403629	89403629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgataggtactctcagagGagcagtggaaccaggtaaag	14	6	1	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:89403629G>A	uc001pda.2	+	4	693	c.167G>A	c.(166-168)GGA>GAA	p.G56E		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	56					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						ACTCTCAGAGGAGCAGTGGAA	0.239													A	89403629	G	A	89403629	3	1	184	1	0	0	0	0	1	0	0	0	5980	1174	41	4	173	4	FOLH1B	11	89403629	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	12333587	89403629	45602887	86	97277											
PHLDB1	23187	broad.mit.edu	37	chr11	118520801	118520802	+	Frame_Shift_Ins	INS	-	-	CG													gcacgacccctgacccgctaINScctgccaatccggaaggagg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr11:118520800_118520801T>TCG	uc001ptr.2	+	19	4026_4027	c.3673_3674T>TCG	c.(3673-3675)tacfs	p.Y1225fs	PHLDB1_uc001pts.3_Frame_Shift_Ins_p.Y1225fs|PHLDB1_uc001ptt.3_Frame_Shift_Ins_p.Y1178fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Frame_Shift_Ins_p.Y1040fs|PHLDB1_uc001ptw.2_Frame_Shift_Ins_p.Y580fs|PHLDB1_uc009zai.2_Frame_Shift_Ins_p.Y261fs|PHLDB1_uc001ptx.2_Frame_Shift_Ins_p.Y261fs	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1225								p.R1224S(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGACCCGCTACCTGCCAATC	0.564													CG	118520802	-	CG	118520801	7	5	184	1	0	1	1	0	0	0	0	0	11851	391	14	0	3744	0	PHLDB1	11	118520801	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	29117172	118520801	16485715	87	97278											
LRRK2	120892	broad.mit.edu	37	chr12	40619412	40619413	+	In_Frame_Ins	INS	-	-	CTC													ctctgttgatcgtcttggacINStcctatatgagagtcgcgag							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:40619411_40619412A>ACTC	uc001rmg.4	+	1	327_328	c.206_207A>ACTC	c.(205-207)gac>gACTC	p.D69D		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	69					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)				ATCGTCTTGGACTCCTATATGA	0.441													CTC	40619413	-	CTC	40619412	7	5	184	1	0	1	1	0	0	0	0	0	9033	564	20	0	213	0	LRRK2	12	40619412	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08		40619412	93232483	88	97279											
ACVR1B	91	broad.mit.edu	37	chr12	52377884	52377884	+	Frame_Shift_Del	DEL	A	A	-													cagtgacaattgaggggatgAttaagctggccttgtctgct							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:52377884delA	uc001rzn.2	+	5	955	c.913delA	c.(913-915)ATTfs	p.I305fs	ACVR1B_uc001rzl.2_Frame_Shift_Del_p.I305fs|ACVR1B_uc001rzm.2_Frame_Shift_Del_p.I305fs|ACVR1B_uc010snn.1_Frame_Shift_Del_p.I346fs	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	305	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGGGATGATTAAGCTGGC	0.547													-	52377884	A	-	52377884	7	5	184	1	0	1	0	1	0	0	0	0	221	333	12	0	1058	0	ACVR1B	12	52377884	Frame_Shift_Del	DEL	A	TCGA-CG-4477-01A-01D-1158-08	11758472	52377884	81474011	89	97280											
BAZ2A	11176	broad.mit.edu	37	chr12	57000428	57000429	+	In_Frame_Ins	INS	-	-	TAG													tccctcacctgcccttggatINSagtagtctgacactctcccc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:57000427_57000428A>ATAG	uc001slq.1	-	10	2382_2383	c.2188_2189T>CTAT	c.(2188-2190)atc>CTATc	p.I730L	BAZ2A_uc001slp.1_In_Frame_Ins_p.I728L|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_In_Frame_Ins_p.I698L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	730	Lys-rich.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTGCCCTTGGATAGTAGTCTGA	0.421													TAG	57000429	-	TAG	57000428	7	5	184	1	0	1	1	0	0	0	0	0	1331	1406	49	0	3605	0	BAZ2A	12	57000428	In_Frame_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	4622544	57000428	76851467	90	97281											
LEMD3	23592	broad.mit.edu	37	chr12	65564812	65564812	+	Frame_Shift_Del	DEL	C	C	-													cttgtcgatgtttctcttaaCtgctgcctgcttatttttcc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:65564811_65564811AC>A	uc001ssl.2	+	0	1461	c.1435_1435AC>A	c.(1435-1437)actfs	p.T479fs	LEMD3_uc009zqo.2_Frame_Shift_Del_p.T479fs	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	479					negative regulation of BMP signaling pathway|negative regulation of activin receptor 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)		GTTTCTCTTAACTGCTGCCTG	0.463													-	65564812	C	-	65564812	7	5	184	1	0	1	0	1	0	0	0	0	8721	565	20	0	1438	0	LEMD3	12	65564812	Frame_Shift_Del	DEL	C	TCGA-CG-4477-01A-01D-1158-08	8564384	65564812	68287083	91	97282											
TMCC3	57458	broad.mit.edu	37	chr12	94976263	94976263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttggtgtctgacccccCtcggcgtatgttcaggggca	15	11	2	1	rs151064246		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:94976263C>T	uc001tdj.2	-	2	248	c.130G>A	c.(130-132)GGG>AGG	p.G44R	TMCC3_uc001tdi.2_Missense_Mutation_p.G13R	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	44						integral to membrane				ovary(1)|skin(1)	2						TCTGACCCCCCTCGGCGTATG	0.453													T	94976263	C	T	94976263	3	4	184	1	0	0	0	0	1	0	0	0	15991	681	24	4	1315	4	TMCC3	12	94976263	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	29411451	94976263	38875632	92	97283											
GPR133	283383	broad.mit.edu	37	chr12	131569149	131569149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaacctcacctactccGtctgccgctgcactcacctc	7	18	3	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:131569149G>A	uc001uit.3	+	15	2171	c.1612G>A	c.(1612-1614)GTC>ATC	p.V538I	GPR133_uc010tbm.1_Missense_Mutation_p.V570I|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.V57I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	538	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	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)		CACCTACTCCGTCTGCCGCTG	0.622													A	131569149	G	A	131569149	3	1	184	1	0	0	0	0	1	0	0	0	6643	1145	40	1	1670	1	GPR133	12	131569149	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	36592886	131569149	2282746	93	97284											
EP400	57634	broad.mit.edu	37	chr12	132551418	132551418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcctccggtggtgtccGtcccggcagctgtggtctcc	14	15	1	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr12:132551418G>A	uc001ujn.2	+	48	8688	c.8653G>A	c.(8653-8655)GTC>ATC	p.V2885I	EP400_uc001ujl.2_Missense_Mutation_p.V2884I|EP400_uc001ujm.2_Missense_Mutation_p.V2804I|EP400_uc001ujp.2_Missense_Mutation_p.V95I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2921					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.P2885P(1)		central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		GGTGGTGTCCGTCCCGGCAGC	0.682													A	132551418	G	A	132551418	3	1	184	1	0	0	0	0	1	0	0	0	5149	1145	40	1	8840	1	EP400	12	132551418	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	982269	132551418	1300477	94	97285											
FAM124A	220108	broad.mit.edu	37	chr13	51854758	51854758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatccggacaggcctgcCtcctgggcaccagcaggaat	12	16	0	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr13:51854758C>T	uc001vfg.1	+	4	1138	c.1007C>T	c.(1006-1008)CCT>CTT	p.P336L	FAM124A_uc001vff.1_Missense_Mutation_p.P372L	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	336										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ACAGGCCTGCCTCCTGGGCAC	0.617													T	51854758	C	T	51854758	3	4	184	1	0	0	0	0	1	0	0	0	5425	681	24	4	1133	4	FAM124A	13	51854758	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08		51854758	63315120	95	97286											
F10	2159	broad.mit.edu	37	chr13	113795276	113795277	+	Frame_Shift_Del	DEL	GT	GT	-													gacaacggggactgtgaccaGttctgccacgaggaacagaa							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr13:113795275_113795276AGT>A	uc001vsx.3	+	4	470_471	c.413_414AGT>A	c.(412-414)cagfs	p.Q138fs	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Frame_Shift_Del_p.Q138fs	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	138	EGF-like 2.				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	Golgi lumen|endoplasmic reticulum lumen|extracellular region	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)	GACTGTGACCAGTTCTGCCACG	0.624													-	113795277	GT	-	113795276	7	5	184	1	0	1	0	1	0	0	0	0	5336	1020	36	0	432	0	F10	13	113795276	Frame_Shift_Del	DEL	GT	TCGA-CG-4477-01A-01D-1158-08	61940518	113795276	1374602	96	97287											
NIN	51199	broad.mit.edu	37	chr14	51202241	51202242	+	Frame_Shift_Ins	INS	-	-	AGCT													tgagaaacttacctccatgaINSgctgctcatccagttttact							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr14:51202240_51202241G>GAGCT	uc001wyi.3	-	27	6061_6062	c.5870_5871C>AGCTC	c.(5869-5871)ctcfs	p.L1957fs	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Frame_Shift_Ins_p.L1957fs|NIN_uc001wyk.3_Frame_Shift_Ins_p.L1244fs|NIN_uc001wyo.3_Frame_Shift_Ins_p.L1957fs|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1957					centrosome localization	centrosome|microtubule	GTP binding|calcium ion 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)					TTACCTCCATGAGCTGCTCATC	0.381			T	PDGFRB	MPD								AGCT	51202242	-	AGCT	51202241	7	5	184	1	0	1	1	0	0	0	0	0	10417	304	11	0	695	0	NIN	14	51202241	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08		51202241	56147299	97	97288											
EVL	51466	broad.mit.edu	37	chr14	100608121	100608121	+	Frame_Shift_Del	DEL	A	A	-													tccacaaggtgaaggaggagAtcatcgacggtgagtgcagc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr14:100608120_100608120GA>G	uc001ygu.3	+	12	1296	c.1209_1209GA>G	c.(1207-1209)gagfs	p.E403fs	EVL_uc001ygt.3_Frame_Shift_Del_p.E401fs|EVL_uc001ygw.1_5'Flank	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	401	EVH2 block C.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				TGAAGGAGGAGATCATCGACG	0.622													-	100608121	A	-	100608121	7	5	184	1	0	1	0	1	0	0	0	0	5291	333	12	0	1260	0	EVL	14	100608121	Frame_Shift_Del	DEL	A	TCGA-CG-4477-01A-01D-1158-08	49405880	100608121	6741419	98	97289											
OR4N4	283694	broad.mit.edu	37	chr15	22383082	22383082	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctaatggtcttcaacagtGgcctgatgacactcctgtgc	9	11	3	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:22383082G>C	uc001yuc.1	+	7	1591	c.610G>C	c.(610-612)GGC>CGC	p.G204R	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.G204R	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		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)		CTTCAACAGTGGCCTGATGAC	0.522													C	22383082	G	C	22383082	3	2	184	1	0	0	0	0	1	0	0	0	11078	1348	47	5	612	5	OR4N4	15	22383082	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08		22383082	80148310	99	97290											
MGA	23269	broad.mit.edu	37	chr15	41961472	41961473	+	Frame_Shift_Ins	INS	-	-	TATC													tatattcttgtcatggatatINSatctcctgtggataaccatc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:41961471_41961472A>ATATC	uc010ucy.2	+	1	560_561	c.379_380A>ATATC	c.(379-381)atafs	p.I127fs	MGA_uc001zog.1_Frame_Shift_Ins_p.I127fs|MGA_uc010ucz.2_Frame_Shift_Ins_p.I127fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	127						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)		TGTCATGGATATATCTCCTGTG	0.411													TATC	41961473	-	TATC	41961472	7	5	184	1	0	1	1	0	0	0	0	0	9540	1406	49	0	382	0	MGA	15	41961472	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	19578390	41961472	60569920	100	97291											
DUOXA1	90527	broad.mit.edu	37	chr15	45409999	45409999	+	Frame_Shift_Del	DEL	C	C	-													cgcacccttctggaccaaagCgccaaggactgcagccagga							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:45409999delC	uc001zup.2	-	11	1566	c.1166delG	c.(1165-1167)CGCfs	p.R389fs	DUOXA2_uc001zuo.2_Frame_Shift_Del_p.S285fs|DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Frame_Shift_Del_p.R344fs|DUOXA1_uc010bec.2_Frame_Shift_Del_p.R389fs	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Numb-interacting protein	Error:Variant_position_missing_in_Q1HG43_after_alignment					protein transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		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)		TGGACCAAAGCGCCAAGGACT	0.617											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	45409999	C	-	45409999	7	5	184	1	0	1	0	1	0	0	0	0	4802	768	27	0	289	0	DUOXA1	15	45409999	Frame_Shift_Del	DEL	C	TCGA-CG-4477-01A-01D-1158-08	3448527	45409999	57121393	101	97292											
HERC1	8925	broad.mit.edu	37	chr15	63966587	63966588	+	Frame_Shift_Ins	INS	-	-	CACT													cttccaaaagcccatgaaccINSactaatttatagatcatggc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:63966586_63966587C>CCACT	uc002amp.3	-	37	7948_7949	c.7800_7801G>AGTGG	c.(7798-7803)gtggttfs	p.V2600fs		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2600					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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						AGCCCATGAACCACTAATTTAT	0.411													CACT	63966588	-	CACT	63966587	7	5	184	1	0	1	1	0	0	0	0	0	7057	581	21	0	6949	0	HERC1	15	63966587	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	18556588	63966587	38564805	102	97293											
AP3B2	8120	broad.mit.edu	37	chr15	83349607	83349607	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgttctgggtggggctcagGaactgcgtgcgggcgtagcg	19	9	2	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:83349607G>A	uc010uoh.1	-	7	930	c.753C>T	c.(751-753)TTC>TTT	p.F251F	AP3B2_uc010uoi.1_Silent_p.F251F|AP3B2_uc010uoj.1_Silent_p.F219F|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	251					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGGGCTCAGGAACTGCGTGC	0.647													A	83349607	G	A	83349607	2	1	184	1	0	0	0	0	0	0	0	1	745	1165	41	4		4	AP3B2	15	83349607	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	19383020	83349607	19181785	103	97294											
AKAP13	11214	broad.mit.edu	37	chr15	86077059	86077059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgctggcattcaggcaCctgaagctgcccacggagtg	14	11	1	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr15:86077059C>G	uc002blv.1	+	4	596	c.426C>G	c.(424-426)CAC>CAG	p.H142Q	AKAP13_uc002bls.2_Missense_Mutation_p.H142Q|AKAP13_uc002blt.1_Missense_Mutation_p.H142Q|AKAP13_uc002blu.1_Missense_Mutation_p.H142Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	142					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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CATTCAGGCACCTGAAGCTGC	0.448													G	86077059	C	G	86077059	3	3	184	1	0	0	0	0	1	0	0	0	449	506	18	5	436	5	AKAP13	15	86077059	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	2727452	86077059	16454333	104	97295											
SPSB3	90864	broad.mit.edu	37	chr16	1831391	1831391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtagccccagttagtggAgcctgctagagccacggccc	13	14	0	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr16:1831391A>G	uc002cmr.2	-	1	127	c.94T>C	c.(94-96)TCC>CCC	p.S32P	NUBP2_uc002cmw.3_5'Flank|NUBP2_uc002cmx.3_5'Flank|NUBP2_uc010brx.2_5'Flank|SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.S32P|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.S32P	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	32					intracellular signal transduction						0						CAGTTAGTGGAGCCTGCTAGA	0.672													G	1831391	A	G	1831391	3	3	184	1	0	0	0	0	1	0	0	0	15113	304	11	3	997	3	SPSB3	16	1831391	Missense_Mutation	SNP	A	TCGA-CG-4477-01A-01D-1158-08		1831391	88523362	105	97296											
PRSS8	5652	broad.mit.edu	37	chr16	31143847	31143852	+	In_Frame_Del	DEL	CAGTTA	CAGTTA	-													tggcgtcgatgttgtacaggCagttacacgtctcacgactg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr16:31143846_31143851GCAGTTA>G	uc002ebc.4	-	4	936_941	c.604_609TAACTGC>C	c.(604-609)aactgc>C	p.NC202del	PRSS8_uc010vfe.2_In_Frame_Del_p.NC148del	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	202	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						TGTTGTACAGGCAGTTACACGTCTCA	0.597													-	31143852	CAGTTA	-	31143847	7	5	184	1	0	1	0	1	0	0	0	0	12635	710	25	0	431	0	PRSS8	16	31143847	In_Frame_Del	DEL	CAGTTA	TCGA-CG-4477-01A-01D-1158-08	29312456	31143847	59210906	106	97297											
ADAT1	23536	broad.mit.edu	37	chr16	75654629	75654630	+	Frame_Shift_Ins	INS	-	-	C													catggtttggctcaggcttcINScccttcttgggcagcctgat							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr16:75654628_75654629T>TC	uc002feo.2	-	2	238_239	c.69_70A>GA	c.(67-72)gggaagfs	p.G23fs	ADAT1_uc002fep.2_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	23					tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GGCTCAGGCTTCCCCTTCTTGG	0.525													C	75654630	-	C	75654629	7	5	184	1	0	1	1	0	0	0	0	0	284	842	30	0	1475	0	ADAT1	16	75654629	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	44510782	75654629	14700124	107	97298											
TP53	7157	broad.mit.edu	37	chr17	7578183	7578187	+	Frame_Shift_Del	DEL	CGGCT	CGGCT	-													gttgcaaaccagacctcaggCggctcatagggcaccaccac					rs72661118		TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:7578182_7578186GCGGCT>G	uc002gim.2	-	5	857_861	c.663_667AGCCGC>C	c.(661-669)gagccgcctfs	p.E221fs	TP53_uc002gig.1_Frame_Shift_Del_p.E221fs|TP53_uc002gih.3_Frame_Shift_Del_p.E221fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.E89fs|TP53_uc010cnf.1_Frame_Shift_Del_p.E89fs|TP53_uc002gii.1_Frame_Shift_Del_p.E89fs|TP53_uc010cni.1_Frame_Shift_Del_p.E221fs|TP53_uc010cnh.1_Frame_Shift_Del_p.E221fs|TP53_uc002gij.2_Frame_Shift_Del_p.E221fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.E128fs|TP53_uc002gio.2_Frame_Shift_Del_p.E89fs|TP53_uc010vug.2_Frame_Shift_Del_p.E182fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	221	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 sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(238)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.P222P(10)|p.P222L(10)|p.Y220S(10)|p.E221*(8)|p.0?(8)|p.P222T(6)|p.P223P(4)|p.P223L(4)|p.E221E(4)|p.E221D(4)|p.P223fs*1(4)|p.P222S(4)|p.Y220fs*27(4)|p.Y220*(3)|p.E221fs*4(3)|p.Y220D(3)|p.P223S(2)|p.E221G(2)|p.P222fs*24(2)|p.P223A(2)|p.P223fs*24(2)|p.E221fs*26(2)|p.P223H(2)|p.Y220_P223delYEPP(2)|p.E221fs*2(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.P222A(2)|p.E221K(2)|p.V218_E224delVPYEPPE(2)|p.P222Q(2)|p.P222fs*25(2)|p.P223R(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y220fs*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)		CAGACCTCAGGCGGCTCATAGGGCA	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)			-	7578187	CGGCT	-	7578183	7	5	184	1	0	1	0	1	0	0	0	0	16378	755	27	0	628	0	TP53	17	7578183	Frame_Shift_Del	DEL	CGGCT	TCGA-CG-4477-01A-01D-1158-08		7578183	73617027	108	97299											
KIAA0100	9703	broad.mit.edu	37	chr17	26965392	26965392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggtccacagttaggaCgccccgctgatggatgcttt	14	10	0	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:26965392C>T	uc002hbu.2	-	13	1489	c.1390G>A	c.(1390-1392)GTC>ATC	p.V464I		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	464						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ACAGTTAGGACGCCCCGCTGA	0.567													T	26965392	C	T	26965392	3	4	184	1	0	0	0	0	1	0	0	0	8154	536	19	1	5425	1	KIAA0100	17	26965392	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	19387209	26965392	54229818	109	97300											
NEUROD2	4761	broad.mit.edu	37	chr17	37761740	37761741	+	Frame_Shift_Del	DEL	GG	GG	-													gcattgagctcctcgtacatGgggccccggtcgtggtgaag							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:37761739_37761740TGG>T	uc002hry.3	-	1	1313_1314	c.1113_1114CCA>A	c.(1111-1116)cccatgfs	p.P371fs	NEUROD2_uc021tws.1_Frame_Shift_Del_p.P371fs	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	371					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)			TCCTCGTACATGGGGCCCCGGT	0.609													-	37761741	GG	-	37761740	7	5	184	1	0	1	0	1	0	0	0	0	10349	1335	47	0	39	0	NEUROD2	17	37761740	Frame_Shift_Del	DEL	GG	TCGA-CG-4477-01A-01D-1158-08	10796348	37761740	43433470	110	97301											
TOP2A	7153	broad.mit.edu	37	chr17	38560458	38560458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccagctaattgggcaacCtttacttctcgcttgtcatt	7	11	2	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:38560458C>A	uc002huq.2	-	19	2355	c.2229G>T	c.(2227-2229)AAG>AAT	p.K743N		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	743					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		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)	ATTGGGCAACCTTTACTTCTC	0.378													A	38560458	C	A	38560458	3	1	184	1	0	0	0	0	1	0	0	0	16362	680	24	5	2434	5	TOP2A	17	38560458	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	798718	38560458	42634752	111	97302											
KRT33A	3883	broad.mit.edu	37	chr17	39503141	39503142	+	Frame_Shift_Ins	INS	-	-	GC													tctccagggcattgaccgtgINScgtctcagctcgatgatctc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:39503140_39503141T>TGC	uc002hwk.1	-	4	868_869	c.831_832A>GCA	c.(829-834)cgcacgfs	p.R277fs		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	277	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)				GCATTGACCGTGCGTCTCAGCT	0.584													GC	39503142	-	GC	39503141	7	5	184	1	0	1	1	0	0	0	0	0	8469	1306	46	0	395	0	KRT33A	17	39503141	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	942683	39503141	41692069	112	97303											
GRN	2896	broad.mit.edu	37	chr17	42427601	42427601	+	Frame_Shift_Del	DEL	A	A	-													tcatcttgtccacaggtaacAactccgtgggtgccatccag							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:42427600_42427600CA>C	uc002igp.1	+	4	573	c.354_354CA>C	c.(352-354)aacfs	p.N118fs	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	118					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)		CCACAGGTAACAACTCCGTGG	0.597													-	42427601	A	-	42427601	7	5	184	1	0	1	0	1	0	0	0	0	6804	130	5	0	369	0	GRN	17	42427601	Frame_Shift_Del	DEL	A	TCGA-CG-4477-01A-01D-1158-08	2924460	42427601	38767609	113	97304											
ANKRD40	91369	broad.mit.edu	37	chr17	48776902	48776902	+	Frame_Shift_Del	DEL	T	T	-													agggagcggctctgactcacTggtggctgacaaacaggacc							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:48776901_48776901CT>C	uc002iso.3	-	2	892	c.637_637AG>G	c.(637-639)gtgfs	p.V213fs		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	213	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CTCTGACTCACTGGTGGCTGA	0.547													-	48776902	T	-	48776902	7	5	184	1	0	1	0	1	0	0	0	0	669	1567	55	0	482	0	ANKRD40	17	48776902	Frame_Shift_Del	DEL	T	TCGA-CG-4477-01A-01D-1158-08	6349301	48776902	32418308	114	97305											
CLTC	1213	broad.mit.edu	37	chr17	57743978	57743978	+	Frame_Shift_Del	DEL	G	G	-													tatgatataaaacgtgcagtGgttcacacccatcttcttaa							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:57743977_57743977TG>T	uc002ixr.1	+	11	2374	c.1931_1931TG>T	c.(1930-1932)gtgfs	p.V644fs	CLTC_uc002ixp.3_Frame_Shift_Del_p.V640fs|CLTC_uc002ixq.1_Frame_Shift_Del_p.V640fs	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	640	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)					AAACGTGCAGTGGTTCACACC	0.393			T	"ALK, TFE3"	"ALCL, renal "								-	57743978	G	-	57743978	7	5	184	1	0	1	0	1	0	0	0	0	3566	1335	47	0	1966	0	CLTC	17	57743978	Frame_Shift_Del	DEL	G	TCGA-CG-4477-01A-01D-1158-08	8967076	57743978	23451232	115	97306											
TBCD	6904	broad.mit.edu	37	chr17	80888411	80888412	+	Frame_Shift_Ins	INS	-	-	C													ttgcagatccggcactccacINSccagagcctctttgagtaca							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr17:80888410_80888411A>AC	uc002kfy.1	+	32	3134_3135	c.3004_3005A>AC	c.(3004-3006)accfs	p.T1002fs	TBCD_uc002kfz.3_Frame_Shift_Ins_p.T1002fs|TBCD_uc002kgd.3_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	1002					'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	GTPase activator activity|beta-tubulin binding|chaperone binding					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)			CCGGCACTCCACCCAGAGCCTC	0.609													C	80888412	-	C	80888411	7	5	184	1	0	1	1	0	0	0	0	0	15630	507	18	0	3135	0	TBCD	17	80888411	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	23144433	80888411	306799	116	97307											
CDH2	1000	broad.mit.edu	37	chr18	25585844	25585844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccctcaggaactgtcccattCcaaacctggtgtaagaactc	7	14	1	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr18:25585844C>A	uc002kwg.2	-	6	1275	c.816G>T	c.(814-816)TGG>TGT	p.W272C	CDH2_uc010xbn.1_Missense_Mutation_p.W241C	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	272	Extracellular (Potential).|Cadherin 2.				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.W272R(1)		ovary(3)|lung(1)	4						CTGTCCCATTCCAAACCTGGT	0.388													A	25585844	C	A	25585844	3	1	184	1	0	0	0	0	1	0	0	0	3105	856	30	5	1948	5	CDH2	18	25585844	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08		25585844	52491404	117	97308											
PHLPP1	23239	broad.mit.edu	37	chr18	60563240	60563241	+	Frame_Shift_Ins	INS	-	-	CTAA													tcacattaaacatgtggatcINStaaggtaaccatttttgaga							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr18:60563239_60563240T>TCTAA	uc021ule.1	+	5	2684_2685	c.2439_2440T>TCTAA	c.(2437-2442)gatctafs	p.D813fs		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	813					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						AACATGTGGATCTAAGGTAACC	0.406													CTAA	60563241	-	CTAA	60563240	7	5	184	1	0	1	1	0	0	0	0	0	11854	912	32	0	2462	0	PHLPP1	18	60563240	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	34977396	60563240	17514008	118	97309											
ZNF554	115196	broad.mit.edu	37	chr19	2834817	2834817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcattgactgtgggaaagcGttctaccagaacagacatct	9	9	3	3			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:2834817G>A	uc002lwm.2	+	5	1782	c.1584G>A	c.(1582-1584)GCG>GCA	p.A528A	ZNF554_uc002lwl.2_Silent_p.A477A	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		GTGGGAAAGCGTTCTACCAGA	0.428													A	2834817	G	A	2834817	2	1	184	1	0	0	0	0	0	0	0	1	17982	1132	40	1		1	ZNF554	19	2834817	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08		2834817	56294166	119	97310											
RANBP3	8498	broad.mit.edu	37	chr19	5917945	5917945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgcagggccaggatgCggtggtgcagggctgcatac	19	10	0	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:5917945C>T	uc002mdw.2	-	16	1747	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	RANBP3_uc002mdv.2_Missense_Mutation_p.R226H|RANBP3_uc002mdx.2_Missense_Mutation_p.R502H|RANBP3_uc002mdy.2_Missense_Mutation_p.R439H|RANBP3_uc002mdz.2_Missense_Mutation_p.R434H|RANBP3_uc010duq.2_Missense_Mutation_p.R412H|RANBP3_uc002mea.2_Missense_Mutation_p.R374H|RANBP3_uc010xix.1_Missense_Mutation_p.R379H	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	507	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGCCAGGATGCGGTGGTGCAG	0.682													T	5917945	C	T	5917945	3	4	184	1	0	0	0	0	1	0	0	0	13029	768	27	1	191	1	RANBP3	19	5917945	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	3083128	5917945	53211038	120	97311											
MAST1	22983	broad.mit.edu	37	chr19	12969492	12969492	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgagaacccgtttgtggtCggcatgttctgctcctttga	12	11	1	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:12969492C>T	uc002mvm.2	+	12	1433	c.1305C>T	c.(1303-1305)GTC>GTT	p.V435V	MAST1_uc002mvk.2_Silent_p.V431V	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	435	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CGTTTGTGGTCGGCATGTTCT	0.567													T	12969492	C	T	12969492	2	4	184	1	0	0	0	0	0	0	0	1	9324	871	31	1		1	MAST1	19	12969492	Silent	SNP	C	TCGA-CG-4477-01A-01D-1158-08	7051547	12969492	46159491	121	97312											
STX10	8677	broad.mit.edu	37	chr19	13259888	13259889	+	Frame_Shift_Ins	INS	-	-	ATAT													ctacggctgttgggctgaccINSatatggtccttcatttcctg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:13259888_13259889insATAT	uc010xnb.1	-	4	317_318	c.317_318insATAT	c.(316-318)ATGfs	p.M106fs	STX10_uc002mwn.2_Frame_Shift_Ins_p.M5fs|STX10_uc002mwo.2_Frame_Shift_Ins_p.M5fs|STX10_uc010xna.1_Intron|STX10_uc010xnc.1_Intron|IER2_uc002mwr.2_5'Flank	NM_003765	NP_003756	O60499	STX10_HUMAN	syntaxin 10	106	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TTGGGCTGACCATATGGTCCTT	0.416													ATAT	13259889	-	ATAT	13259888	7	5	184	1	0	1	1	0	0	0	0	0	15335	594	21	0	450	0	STX10	19	13259888	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	290396	13259888	45869095	122	97313											
ZNF626	199777	broad.mit.edu	37	chr19	20807373	20807373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtgtagtaaggattgagGactggttgaaggctttgcca	14	4	0	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:20807373G>A	uc002npb.1	-	4	1460	c.1310C>T	c.(1309-1311)TCC>TTC	p.S437F	ZNF626_uc002npc.1_Missense_Mutation_p.S361F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	437	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AAGGATTGAGGACTGGTTGAA	0.378													A	20807373	G	A	20807373	3	1	184	1	0	0	0	0	1	0	0	0	18047	1174	41	4	280	4	ZNF626	19	20807373	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	7547485	20807373	38321610	123	97314											
WDR88	126248	broad.mit.edu	37	chr19	33647448	33647449	+	Splice_Site	INS	-	-	CA													ctgtcactttgccagagacaINSgtgagtaattaacatgcaga							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:33647447_33647448C>CCA	uc002nui.3	+	7	1075	c.997_splice	c.e7+1	p.S333_splice		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	333										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)					TTGCCAGAGACAGTGAGTAATT	0.5													CA	33647449	-	CA	33647448	8	5	184	1	0	1	1	0	0	0	1	0	17332	202	7	0	1023	0	WDR88	19	33647448	Splice_Site	INS	-	TCGA-CG-4477-01A-01D-1158-08	12840075	33647448	25481535	124	97315											
CEBPG	1054	broad.mit.edu	37	chr19	33870509	33870509	+	Frame_Shift_Del	DEL	T	T	-													taagtgtactcaaagatttgTttcttgagcatgcacacaac							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:33870508_33870508GT>G	uc002nup.3	+	1	686	c.363_363GT>G	c.(361-363)ttgfs	p.L121fs	CEBPG_uc021usd.1_Frame_Shift_Del_p.L121fs|CEBPG_uc021use.1_Frame_Shift_Del_p.L121fs	NM_001806	NP_001797	P53567	CEBPG_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), gamma (CEBPG), transcript variant 1, mRNA.	121					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					TCAAAGATTTGTTTCTTGAGC	0.433													-	33870509	T	-	33870509	7	5	184	1	0	1	0	1	0	0	0	0	3203	1725	60	0	366	0	CEBPG	19	33870509	Frame_Shift_Del	DEL	T	TCGA-CG-4477-01A-01D-1158-08	223061	33870509	25258474	125	97316											
SLC1A5	6510	broad.mit.edu	37	chr19	47281994	47281994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccacaggaagcggtagggGtttttgcgggtgaagaggaa	17	7	0	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:47281994G>T	uc002pfs.2	-	5	1616	c.996C>A	c.(994-996)AAC>AAA	p.N332K	SLC1A5_uc010xyh.1_Missense_Mutation_p.N130K|SLC1A5_uc002pfq.2_Missense_Mutation_p.N156K|SLC1A5_uc002pfr.2_Missense_Mutation_p.N104K	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	332					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	AGCGGTAGGGGTTTTTGCGGG	0.602													T	47281994	G	T	47281994	3	4	184	1	0	0	0	0	1	0	0	0	14435	1252	44	5	645	5	SLC1A5	19	47281994	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	13411485	47281994	11846989	126	97317											
IRF3	3661	broad.mit.edu	37	chr19	50163007	50163007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggtggctgttggaaatGtgcaggtccacagtattctc	14	7	1	0			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:50163007G>A	uc010end.1	-	8	1564	c.1182C>T	c.(1180-1182)CAC>CAT	p.H394H	IRF3_uc002pos.1_RNA|IRF3_uc002pot.1_Silent_p.H267H|IRF3_uc002pox.1_Missense_Mutation_p.H356Y|IRF3_uc002poy.1_Silent_p.H394H|IRF3_uc002pou.2_Silent_p.H394H|IRF3_uc002pov.2_Silent_p.H248H|IRF3_uc002pow.2_Missense_Mutation_p.H400Y	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	394					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			ovary(2)	2		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)		TGTTGGAAATGTGCAGGTCCA	0.622													A	50163007	G	A	50163007	2	1	184	1	0	0	0	0	0	0	0	1	7831	1368	48	4		4	IRF3	19	50163007	Silent	SNP	G	TCGA-CG-4477-01A-01D-1158-08	2881013	50163007	8965976	127	97318											
CNOT3	4849	broad.mit.edu	37	chr19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaagatggcggacaagcGcaaactccaaggtactagac	13	9	0	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr19:54646728G>A	uc002qdj.1	+	2	325	c.14G>A	c.(13-15)CGC>CAC	p.R5H	CNOT3_uc010yel.1_Missense_Mutation_p.R5H|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.R5H|CNOT3_uc010ere.1_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527													A	54646728	G	A	54646728	3	1	184	1	0	0	0	0	1	0	0	0	3620	1087	38	1	16	1	CNOT3	19	54646728	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	4483721	54646728	4482255	128	97319											
BTBD3	22903	broad.mit.edu	37	chr20	11899738	11899738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctctgtttatagaaatGcgatgatgttcaataatgat	8	5	2	3			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:11899738G>T	uc002wnz.2	+	2	690	c.331G>T	c.(331-333)GCG>TCG	p.A111S	BTBD3_uc002wny.2_Missense_Mutation_p.A50S|BTBD3_uc002woa.2_Missense_Mutation_p.A50S|BTBD3_uc010zrf.1_Intron|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	111										ovary(2)|central_nervous_system(1)	3						TTATAGAAATGCGATGATGTT	0.438													T	11899738	G	T	11899738	3	4	184	1	0	0	0	0	1	0	0	0	1544	1319	46	5	337	5	BTBD3	20	11899738	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08		11899738	51125782	129	97320											
BTBD3	22903	broad.mit.edu	37	chr20	11900476	11900476	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgctgcttttctcgcTatgctgaagtaagcatcatt	8	10	2	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:11900476T>A	uc002wnz.2	+	3	887	c.528T>A	c.(526-528)GCT>GCA	p.A176A	BTBD3_uc002wny.2_Silent_p.A115A|BTBD3_uc002woa.2_Silent_p.A115A|BTBD3_uc010zrf.1_Silent_p.A25A|BTBD3_uc010zrg.1_Silent_p.A25A|BTBD3_uc010zrh.1_Silent_p.A25A	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	176	BTB.									ovary(2)|central_nervous_system(1)	3						CTTTTCTCGCTATGCTGAAGT	0.418													A	11900476	T	A	11900476	2	1	184	1	0	0	0	0	0	0	0	1	1544	1509	53	5		5	BTBD3	20	11900476	Silent	SNP	T	TCGA-CG-4477-01A-01D-1158-08	738	11900476	51125044	130	97321											
THBD	7056	broad.mit.edu	37	chr20	23029226	23029229	+	Frame_Shift_Del	DEL	AGGA	AGGA	-													ggtctcgcacatgcacgagtAggagcccggctggtcggggt							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:23029226_23029229delAGGA	uc002wss.2	-	1	1073_1076	c.913_916delTCCT	c.(913-918)TCCTACfs	p.S305fs	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Frame_Shift_Del_p.S246fs	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	305_306	EGF-like 2.|Extracellular (Potential).				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				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	ATGCACGAGTAGGAGCCCGGCTGG	0.686													-	23029229	AGGA	-	23029226	7	5	184	1	0	1	0	1	0	0	0	0	15849	420	15	0	815	0	THBD	20	23029226	Frame_Shift_Del	DEL	AGGA	TCGA-CG-4477-01A-01D-1158-08	11128750	23029226	39996294	131	97322											
BPIL1	80341	broad.mit.edu	37	chr20	31609144	31609144	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaagcccctgctggaccatCtcaatggtaagccctgccct	9	15	1	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:31609144C>T	uc002wyj.2	+	14	1446	c.1252C>T	c.(1252-1254)CTC>TTC	p.L418F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	418						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GCTGGACCATCTCAATGGTAA	0.652													T	31609144	C	T	31609144	3	4	184	1	0	0	0	0	1	0	0	0	1491	913	32	4	1302	4	BPIL1	20	31609144	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	8579918	31609144	31416376	132	97323											
NDRG3	57446	broad.mit.edu	37	chr20	35317146	35317147	+	Frame_Shift_Ins	INS	-	-	CA													ctttgggtaagcctcttataINSgtgacgtggaccacaccatg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:35317145_35317146T>TCA	uc002xfw.3	-	3	277_278	c.135_136A>TGA	c.(133-138)actatafs	p.T45fs	NDRG3_uc002xfx.3_Frame_Shift_Ins_p.T33fs|NDRG3_uc010zvq.2_Intron|NDRG3_uc010zvr.2_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	45					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		p.I46V(2)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AAGCCTCTTATAGTGACGTGGA	0.381													CA	35317147	-	CA	35317146	7	5	184	1	0	1	1	0	0	0	0	0	10253	407	15	0	1044	0	NDRG3	20	35317146	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	3708002	35317146	27708374	133	97324											
C20orf117	140710	broad.mit.edu	37	chr20	35422968	35422968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggaacagtcgagcaaacTttcaaactcagacatggaag	11	8	2	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:35422968T>C	uc002xgd.1	-	14	3130	c.2803A>G	c.(2803-2805)AGT>GGT	p.S935G	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	935											0		Myeloproliferative disorder(115;0.00874)				TCGAGCAAACTTTCAAACTCA	0.507													C	35422968	T	C	35422968	3	2	184	1	0	0	0	0	1	0	0	0	2083	1609	56	3	1538	3	C20orf117	20	35422968	Missense_Mutation	SNP	T	TCGA-CG-4477-01A-01D-1158-08	105822	35422968	27602552	134	97325											
SAMHD1	25939	broad.mit.edu	37	chr20	35555588	35555588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actgtatgaatacataccgtCcatttcacctccgggcgagc	8	13	1	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:35555588C>A	uc002xgh.1	-	6	823	c.693G>T	c.(691-693)TGG>TGT	p.W231C		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	231	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				TACATACCGTCCATTTCACCT	0.353													A	35555588	C	A	35555588	3	1	184	1	0	0	0	0	1	0	0	0	13828	856	30	5	1231	5	SAMHD1	20	35555588	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	132620	35555588	27469932	135	97326											
SPATA2	9825	broad.mit.edu	37	chr20	48522190	48522191	+	Frame_Shift_Ins	INS	-	-	T													atgggagagctgggtggactINStgtagttcagctggttgttg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr20:48522189_48522190C>CT	uc010gie.3	-	2	1879_1880	c.1529_1530G>AG	c.(1528-1530)aagfs	p.K510fs	SPATA2_uc002xuw.3_Frame_Shift_Ins_p.K510fs|SPATA2_uc010zyn.2_Frame_Shift_Ins_p.K373fs	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	510					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)			GCTGGGTGGACTTGTAGTTCAG	0.535													T	48522191	-	T	48522190	7	5	184	1	0	1	1	0	0	0	0	0	15004	1609	56	0	37	0	SPATA2	20	48522190	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	12966602	48522190	14503330	136	97327											
IL17REL	400935	broad.mit.edu	37	chr22	50436170	50436171	+	Splice_Site	INS	-	-	AACC													ggacccccaactggtagagaINSactgcaaagtggggtgaggg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chr22:50436169_50436170G>GAACC	uc003bje.1	-	12	1052	c.820_splice	c.e12-1	p.F274_splice		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	274										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		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;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACTGGTAGAGAACTGCAAAGT	0.619													AACC	50436171	-	AACC	50436170	8	5	184	1	0	1	1	0	0	0	1	0	7644	260	9	0	201	0	IL17REL	22	50436170	Splice_Site	INS	-	TCGA-CG-4477-01A-01D-1158-08		50436170	868396	137	97328											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560206	19560206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagctgttcccaaagAggatgacaggggggagggcg	18	8	0	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:19560206A>G	uc004czm.2	-	16	2045	c.1729T>C	c.(1729-1731)TCT>CCT	p.S577P	SH3KBP1_uc011mje.1_Missense_Mutation_p.S316P|SH3KBP1_uc011mjf.1_Missense_Mutation_p.S339P|SH3KBP1_uc004czl.2_Missense_Mutation_p.S540P|SH3KBP1_uc010nfm.2_Missense_Mutation_p.S22P	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	577					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				0						GTTCCCAAAGAGGATGACAGG	0.657													G	19560206	A	G	19560206	3	3	184	1	0	0	0	0	1	0	0	0	14255	304	11	3	280	3	SH3KBP1	23	19560206	Missense_Mutation	SNP	A	TCGA-CG-4477-01A-01D-1158-08		19560206	135710354	138	97329											
KLHL15	80311	broad.mit.edu	37	chrX	24024572	24024572	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacatggctgaaaccgGtagctgttagaccttttaaa	11	8	0	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:24024572G>C	uc004dba.3	-	3	495	c.239C>G	c.(238-240)ACC>AGC	p.T80S		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	80	BTB.									ovary(1)|breast(1)	2						GCTGAAACCGGTAGCTGTTAG	0.413													C	24024572	G	C	24024572	3	2	184	1	0	0	0	0	1	0	0	0	8371	1261	44	5	1583	5	KLHL15	23	24024572	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	4464366	24024572	131245988	139	97330											
DMD	1756	broad.mit.edu	37	chrX	31152236	31152236	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tacctcttgaactagggaagGagttgttgagttgctccatc	11	8	1	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:31152236G>C	uc004dda.1	-	77	11241	c.10997C>G	c.(10996-10998)TCC>TGC	p.S3666C	DMD_uc004dcq.1_Missense_Mutation_p.S937C|DMD_uc004dcr.1_Missense_Mutation_p.S1086C|DMD_uc004dcs.1_Missense_Mutation_p.S1096C|DMD_uc004dct.1_Missense_Mutation_p.S1206C|DMD_uc004dcu.1_Missense_Mutation_p.S1206C|DMD_uc004dcv.1_Missense_Mutation_p.S1193C|DMD_uc004dcw.2_Missense_Mutation_p.S2322C|DMD_uc004dcx.2_Missense_Mutation_p.S2325C|DMD_uc004dcz.2_Missense_Mutation_p.S3543C|DMD_uc004dcy.1_Missense_Mutation_p.S3662C|DMD_uc004ddb.1_Missense_Mutation_p.S3658C|DMD_uc004dcm.1_Missense_Mutation_p.S598C|DMD_uc004dcn.1_Missense_Mutation_p.S585C|DMD_uc004dco.1_Missense_Mutation_p.S598C|DMD_uc004dcp.1_Missense_Mutation_p.S585C|DMD_uc011mkb.1_Missense_Mutation_p.S488C	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3666					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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				ACTAGGGAAGGAGTTGTTGAG	0.468													C	31152236	G	C	31152236	3	2	184	1	0	0	0	0	1	0	0	0	4580	1174	41	5	158	5	DMD	23	31152236	Missense_Mutation	SNP	G	TCGA-CG-4477-01A-01D-1158-08	7127664	31152236	124118324	140	97331											
CCNB3	85417	broad.mit.edu	37	chrX	50052274	50052274	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaaggagtcgttagccTttaagaagaagcctagcact	10	7	0	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:50052274T>A	uc004dox.3	+	6	1403	c.1105T>A	c.(1105-1107)TTT>ATT	p.F369I	CCNB3_uc004doy.2_Missense_Mutation_p.F369I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	369					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GTCGTTAGCCTTTAAGAAGAA	0.458													A	50052274	T	A	50052274	3	1	184	1	0	0	0	0	1	0	0	0	2914	1609	56	5	1119	5	CCNB3	23	50052274	Missense_Mutation	SNP	T	TCGA-CG-4477-01A-01D-1158-08	18900038	50052274	105218286	141	97332											
AR	367	broad.mit.edu	37	chrX	66766579	66766580	+	Frame_Shift_Ins	INS	-	-	T													gggcccctggatggatagctINSactccggaccttacggggac							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:66766578_66766579C>CT	uc004dwu.2	+	0	2705_2706	c.1590_1591C>CT	c.(1588-1593)agctacfs	p.S530fs	AR_uc011mpd.2_Frame_Shift_Ins_p.S530fs|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Frame_Shift_Ins_p.S530fs|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Frame_Shift_Ins_p.S530fs	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	529	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|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)	GGATGGATAGCTACTCCGGACC	0.569									Androgen Insensitivity Syndrome				T	66766580	-	T	66766579	7	5	184	1	0	1	1	0	0	0	0	0	836	1522	53	0	1593	0	AR	23	66766579	Frame_Shift_Ins	INS	-	TCGA-CG-4477-01A-01D-1158-08	16714305	66766579	88503981	142	97333											
ATP7A	538	broad.mit.edu	37	chrX	77245137	77245137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatagaggctgtatcacCggggctatatagagttagta	12	6	1	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:77245137C>T	uc004ecx.3	+	4	1179	c.1019C>T	c.(1018-1020)CCG>CTG	p.P340L	ATP7A_uc004ecw.2_Missense_Mutation_p.P340L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	340	HMA 3.|Cytoplasmic (Potential).				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|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				0						GCTGTATCACCGGGGCTATAT	0.423													T	77245137	C	T	77245137	3	4	184	1	0	0	0	0	1	0	0	0	1190	652	23	1	1029	1	ATP7A	23	77245137	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	10478558	77245137	78025423	143	97334											
RPS6KA6	27330	broad.mit.edu	37	chrX	83351320	83351320	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagcaaatggagtgtagCtattaataaaatagatttta	7	3	0	1			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:83351320C>T	uc004eej.1	-	20	1931	c.1854_splice	c.e20-1	p.G618_splice	RPS6KA6_uc011mqt.1_Splice_Site_p.G618_splice|RPS6KA6_uc011mqu.1_Splice_Site_p.G515_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TGGAGTGTAGCTATTAATAAA	0.348													T	83351320	C	T	83351320	5	4	184	1	0	0	0	0	0	0	1	0	13655	811	28	2	396	2	RPS6KA6	23	83351320	Splice_Site	SNP	C	TCGA-CG-4477-01A-01D-1158-08	6106183	83351320	71919240	144	97335											
GABRA3	2556	broad.mit.edu	37	chrX	151424320	151424320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtggtcatgttatgagCcactgatttcttgccattgt	12	8	2	2			TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:151424320C>T	uc010ntk.1	-	5	721	c.481G>A	c.(481-483)GCT>ACT	p.A161T		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	161	Extracellular (Probable).				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			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGTTATGAGCCACTGATTTC	0.493													T	151424320	C	T	151424320	3	4	184	1	0	0	0	0	1	0	0	0	6162	739	26	2	1021	2	GABRA3	23	151424320	Missense_Mutation	SNP	C	TCGA-CG-4477-01A-01D-1158-08	68073000	151424320	3846240	145	97336											
G6PD	2539	broad.mit.edu	37	chrX	153762645	153762652	+	Frame_Shift_Del	DEL	GGACAGCC	GGACAGCC	-													aacagggaggagatgtggttGgacagccggtcagagctctg							TCGA-CG-4477-01A-01D-1158-08	TCGA-CG-4477-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b90e44b2-1ae5-47dd-b979-81612daaf3db	02d6b265-8620-4a55-b3c5-84d930b65532	g.chrX:153762644_153762651TGGACAGCC>T	uc004fly.1	-	5	659_666	c.546_553GGCTGTCCA>A	c.(544-555)cggctgtccaacfs	p.R182fs	G6PD_uc004flx.1_Frame_Shift_Del_p.R212fs	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	182			R -> W (in Vancouver; class I).		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	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|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)					GAGATGTGGTTGGACAGCCGGTCAGAGC	0.62													-	153762652	GGACAGCC	-	153762645	7	5	184	1	0	1	0	1	0	0	0	0	6146	1335	47	0	1027	0	G6PD	23	153762645	Frame_Shift_Del	DEL	GGACAGCC	TCGA-CG-4477-01A-01D-1158-08	2338325	153762645	1507915	146	97337											
PGD	5226	broad.mit.edu	37	chr1	10460553	10460553	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtccctgaaagagatggtctCcaagctgaagaagccccggc	12	12	1	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:10460553C>G	uc001arc.2	+	3	278	c.188C>G	c.(187-189)TCC>TGC	p.S63C	PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Missense_Mutation_p.S63C|PGD_uc010oal.1_Missense_Mutation_p.S50C	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	63					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	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)		GAGATGGTCTCCAAGCTGAAG	0.517													G	10460553	C	G	10460553	3	3	185	1	0	0	0	0	1	0	0	0	11787	855	30	5	198	5	PGD	1	10460553	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08		10460553	238790068	1	97338											
FAF1	11124	broad.mit.edu	37	chr1	51171554	51171554	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagttttgatttaatgactcCtgcagggcactgaaagggtt	11	6	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:51171554C>G	uc009vyx.1	-	8	624	c.561G>C	c.(559-561)CAG>CAC	p.Q187H	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.Q187H	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	187					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.0?(1)		ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTAATGACTCCTGCAGGGCAC	0.453													G	51171554	C	G	51171554	3	3	185	1	0	0	0	0	1	0	0	0	5369	680	24	5	1443	5	FAF1	1	51171554	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	40711001	51171554	198079067	2	97339											
HOOK1	51361	broad.mit.edu	37	chr1	60331609	60331609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatatgaaagcaatggagGaaagatataaaatgtacttg	10	2	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:60331609G>A	uc009wad.2	+	20	1912	c.1810G>A	c.(1810-1812)GAA>AAA	p.E604K	HOOK1_uc001czo.2_Missense_Mutation_p.E604K|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E562K	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	604	Potential.				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			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					AGCAATGGAGGAAAGATATAA	0.348													A	60331609	G	A	60331609	3	1	185	1	0	0	0	0	1	0	0	0	7282	1175	41	4	1884	4	HOOK1	1	60331609	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	9160055	60331609	188919012	3	97340											
PDE4B	5142	broad.mit.edu	37	chr1	66833513	66833513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagcgtcagacactcAggaagatggttattgacatg	12	7	2	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:66833513A>G	uc001dcn.2	+	14	1710	c.1519A>G	c.(1519-1521)AGG>GGG	p.R507G	PDE4B_uc009war.2_Missense_Mutation_p.R415G|PDE4B_uc001dco.2_Missense_Mutation_p.R507G|PDE4B_uc001dcp.2_Missense_Mutation_p.R492G|PDE4B_uc001dcq.2_Missense_Mutation_p.R335G|PDE4B_uc009was.2_Missense_Mutation_p.R274G	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	507					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TCAGACACTCAGGAAGATGGT	0.403													G	66833513	A	G	66833513	3	3	185	1	0	0	0	0	1	0	0	0	11640	179	7	3	1927	3	PDE4B	1	66833513	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	6501904	66833513	182417108	4	97341											
CLCA4	22802	broad.mit.edu	37	chr1	87029424	87029424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcagcctttctaccgtGctaagtcaaaaaaaatcgaa	6	9	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:87029424G>A	uc009wcs.2	+	4	573	c.529G>A	c.(529-531)GCT>ACT	p.A177T	CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	177						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTTCTACCGTGCTAAGTCAAA	0.398													A	87029424	G	A	87029424	3	1	185	1	0	0	0	0	1	0	0	0	3459	1319	46	2	543	2	CLCA4	1	87029424	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	20195911	87029424	162221197	5	97342											
GBP6	163351	broad.mit.edu	37	chr1	89843764	89843764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccaccaggccctggagCagctgcagtatccttccagg	10	15	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:89843764C>A	uc001dnf.2	+	4	695	c.421C>A	c.(421-423)CAG>AAG	p.Q141K	GBP6_uc010ost.1_Missense_Mutation_p.Q11K	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	141							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGCCCTGGAGCAGCTGCAGTA	0.483													A	89843764	C	A	89843764	3	1	185	1	0	0	0	0	1	0	0	0	6278	711	25	5	431	5	GBP6	1	89843764	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	2814340	89843764	159406857	6	97343											
SORT1	6272	broad.mit.edu	37	chr1	109870198	109870198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttctgggagatgctgTaggaagcatgaatatgaagg	14	4	2	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:109870198T>C	uc001dxm.1	-	12	1446	c.1397A>G	c.(1396-1398)TAC>TGC	p.Y466C	SORT1_uc010ovi.1_Missense_Mutation_p.Y329C	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	466	Extracellular (Potential).				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			ovary(1)	1		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)		GGAGATGCTGTAGGAAGCATG	0.428													C	109870198	T	C	109870198	3	2	185	1	0	0	0	0	1	0	0	0	14935	1638	57	3	1134	3	SORT1	1	109870198	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	20026434	109870198	139380423	7	97344											
PTPN22	26191	broad.mit.edu	37	chr1	114357554	114357555	+	Missense_Mutation	DNP	CC	CC	AA													ttccaagttggtggtggattCcttggtcctttgggttttga							TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:114357554_114357555CC>AA	uc001eds.2	-	21	2526_2527	c.2396_2397GG>TT	c.(2395-2397)AGG>ATT	p.R799I	RSBN1_uc001edq.2_5'Flank|RSBN1_uc001edr.2_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.R744I|PTPN22_uc010owo.1_Missense_Mutation_p.R555I|PTPN22_uc001edt.2_3'UTR	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	799					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGTGGATTCCTTGGTCCTTT	0.322													AA	114357555	CC	AA	114357554	3	1	185	1	0	0	0	0	1	0	0	0	12787	854	30	5	30	5	PTPN22	1	114357554	Missense_Mutation	DNP	CC	TCGA-CG-5717-01A-11D-1600-08	4487356	114357554	134893067	8	97345											
HORMAD1	84072	broad.mit.edu	37	chr1	150680760	150680760	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtaaaaaagtttcatggtCaaacaaacatcattaggtaa	6	5	3	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:150680760C>T	uc001evk.1	-	9	625	c.519G>A	c.(517-519)TTG>TTA	p.L173L	HORMAD1_uc001evl.1_Silent_p.L166L|HORMAD1_uc001evm.1_Silent_p.L93L	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	173	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				ovary(2)|central_nervous_system(1)	3	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)			GTTTCATGGTCAAACAAACAT	0.343													T	150680760	C	T	150680760	2	4	185	1	0	0	0	0	0	0	0	1	7286	825	29	4		4	HORMAD1	1	150680760	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	36323206	150680760	98569861	9	97346											
BNIPL	149428	broad.mit.edu	37	chr1	151010070	151010070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagattgcagaagcaccagaActaggagcagccctgagaca	12	10	0	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:151010070A>G	uc001ewl.2	+	2	242	c.69A>G	c.(67-69)GAA>GAG	p.E23E	BNIPL_uc009wmi.2_5'UTR|BNIPL_uc009wmj.2_5'Flank	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	23					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	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)			AAGCACCAGAACTAGGAGCAG	0.498													G	151010070	A	G	151010070	2	3	185	1	0	0	0	0	0	0	0	1	1480	40	2	3		3	BNIPL	1	151010070	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	329310	151010070	98240551	10	97347											
CELF3	11189	broad.mit.edu	37	chr1	151680269	151680269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcaggggcagtgctcacgGcctgggtgtaggcgctgtag	17	10	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:151680269G>T	uc001eys.1	-	6	1423	c.629C>A	c.(628-630)GCC>GAC	p.A210D	CELF3_uc010pdh.1_Missense_Mutation_p.A18D|CELF3_uc001eyr.2_Missense_Mutation_p.A209D|CELF3_uc009wmy.2_Missense_Mutation_p.A210D|CELF3_uc009wmx.1_Missense_Mutation_p.A210D|CELF3_uc001eyt.2_Missense_Mutation_p.A133D|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	210					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						AGTGCTCACGGCCTGGGTGTA	0.687													T	151680269	G	T	151680269	3	4	185	1	0	0	0	0	1	0	0	0	3217	1217	42	5	796	5	CELF3	1	151680269	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	670199	151680269	97570352	11	97348											
TDRD10	126668	broad.mit.edu	37	chr1	154493818	154493818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgcatttgtagatctgGgctccatgcagaaagtgaca	11	8	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:154493818G>A	uc009wow.2	+	6	1070	c.232G>A	c.(232-234)GGC>AGC	p.G78S	TDRD10_uc001ffd.2_Missense_Mutation_p.G78S|TDRD10_uc001ffe.2_5'UTR	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	78	RRM.						nucleotide binding|RNA binding			ovary(1)	1	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)			TGTAGATCTGGGCTCCATGCA	0.512													A	154493818	G	A	154493818	3	1	185	1	0	0	0	0	1	0	0	0	15728	1232	43	4	250	4	TDRD10	1	154493818	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	2813549	154493818	94756803	12	97349											
ASH1L	55870	broad.mit.edu	37	chr1	155450973	155450973	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctggttaaaggattaacaGatacagtaggtgatggggaa	13	3	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:155450973G>C	uc009wqq.2	-	3	2168	c.1688C>G	c.(1687-1689)TCT>TGT	p.S563C	ASH1L_uc001fkt.2_Missense_Mutation_p.S563C|ASH1L_uc009wqr.1_Missense_Mutation_p.S563C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	563					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			AGGATTAACAGATACAGTAGG	0.418													C	155450973	G	C	155450973	3	2	185	1	0	0	0	0	1	0	0	0	1041	942	33	5	7310	5	ASH1L	1	155450973	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	957155	155450973	93799648	13	97350											
IQGAP3	128239	broad.mit.edu	37	chr1	156517991	156517991	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagccgacgttggctttccaGagctgttggcggtcataggc	14	10	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:156517991G>C	uc001fpf.2	-	19	2253	c.2178C>G	c.(2176-2178)CTC>CTG	p.L726L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	726					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCTTTCCAGAGCTGTTGGC	0.572													C	156517991	G	C	156517991	2	2	185	1	0	0	0	0	0	0	0	1	7816	929	33	5		5	IQGAP3	1	156517991	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	1067018	156517991	92732630	14	97351											
BCAN	63827	broad.mit.edu	37	chr1	156618415	156618415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggaggaagcacgggcGtactgccaggagcggggtgc	18	9	0	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:156618415G>A	uc001fpp.2	+	6	1161	c.825G>A	c.(823-825)GCG>GCA	p.A275A	BCAN_uc001fpo.2_Silent_p.A275A	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	275	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACGGGCGTACTGCCAGG	0.498													A	156618415	G	A	156618415	2	1	185	1	0	0	0	0	0	0	0	1	1345	1132	40	1		1	BCAN	1	156618415	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	100424	156618415	92632206	15	97352											
OR6K2	81448	broad.mit.edu	37	chr1	158670388	158670388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagacttaacccaggaatAagggaaagcggagaagataa	11	6	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:158670388A>G	uc001fsu.1	-	1	55	c.55T>C	c.(55-57)TAT>CAT	p.Y19H		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					ACCCAGGAATAAGGGAAAGCG	0.448													G	158670388	A	G	158670388	3	3	185	1	0	0	0	0	1	0	0	0	11202	362	13	3	923	3	OR6K2	1	158670388	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	2051973	158670388	90580233	16	97353											
SLAMF6	114836	broad.mit.edu	37	chr1	160461007	160461007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcactggaaatcctgGggtcccaggagacagtgagg	14	10	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:160461007G>T	uc001fwe.1	-	3	614	c.554C>A	c.(553-555)CCC>CAC	p.P185H	SLAMF6_uc001fwd.1_Missense_Mutation_p.P185H|SLAMF6_uc010pjh.1_Missense_Mutation_p.P136H|SLAMF6_uc010pji.1_Missense_Mutation_p.P74H|SLAMF6_uc010pjj.1_Missense_Mutation_p.P74H|SLAMF6_uc009wtm.1_Missense_Mutation_p.P136H	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	185	Extracellular (Potential).|Ig-like.					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GGAAATCCTGGGGTCCCAGGA	0.493													T	160461007	G	T	160461007	3	4	185	1	0	0	0	0	1	0	0	0	14368	1232	43	5	468	5	SLAMF6	1	160461007	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	1790619	160461007	88789614	17	97354											
GPA33	10223	broad.mit.edu	37	chr1	167042757	167042757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggagtttccacagagatGgcatcgacggtcaccctgac	12	12	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:167042757G>A	uc001gea.1	-	2	407	c.63C>T	c.(61-63)GCC>GCT	p.A21A		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	21						integral to plasma membrane	receptor activity				0						CCACAGAGATGGCATCGACGG	0.572													A	167042757	G	A	167042757	2	1	185	1	0	0	0	0	0	0	0	1	6586	1335	47	4		4	GPA33	1	167042757	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	6581750	167042757	82207864	18	97355											
F5	2153	broad.mit.edu	37	chr1	169511446	169511446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtgtcttcatcagtaTcttggattatttcatagcta	7	8	5	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:169511446T>G	uc001ggg.1	-	13	3027	c.2882A>C	c.(2881-2883)GAT>GCT	p.D961A		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	961	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCATCAGTATCTTGGATTAT	0.443													G	169511446	T	G	169511446	3	3	185	1	0	0	0	0	1	0	0	0	5348	1435	50	5	3844	5	F5	1	169511446	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	2468689	169511446	79739175	19	97356											
RC3H1	149041	broad.mit.edu	37	chr1	173939714	173939714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctcctctctgcttcatAtctcgacacatgtatgtttt	4	13	3	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:173939714A>G	uc001gju.3	-	8	1350	c.1263T>C	c.(1261-1263)GAT>GAC	p.D421D	RC3H1_uc010pms.1_Silent_p.D421D|RC3H1_uc001gjv.2_Silent_p.D421D|RC3H1_uc010pmt.1_Silent_p.D421D	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	421	C3H1-type.				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			ovary(2)	2						TCTGCTTCATATCTCGACACA	0.413													G	173939714	A	G	173939714	2	3	185	1	0	0	0	0	0	0	0	1	13166	446	16	3		3	RC3H1	1	173939714	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	4428268	173939714	75310907	20	97357											
IKBKE	9641	broad.mit.edu	37	chr1	206665007	206665007	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcagtcatttagccaaaaGactcctgcaggtgttccagg	9	10	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:206665007G>T	uc001hdz.1	+	18	2128	c.1760G>T	c.(1759-1761)AGA>ATA	p.R587I	IKBKE_uc009xbv.1_Missense_Mutation_p.R587I|IKBKE_uc001hea.1_Missense_Mutation_p.R502I	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	587					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			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					TTAGCCAAAAGACTCCTGCAG	0.532													T	206665007	G	T	206665007	3	4	185	1	0	0	0	0	1	0	0	0	7612	942	33	5	1822	5	IKBKE	1	206665007	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	32725293	206665007	42585614	21	97358											
OBSCN	84033	broad.mit.edu	37	chr1	228404967	228404967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgggcgaggactctgtGgacttccggctccgcgtctc	15	14	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:228404967G>A	uc009xez.1	+	8	2675	c.2631G>A	c.(2629-2631)GTG>GTA	p.V877V	OBSCN_uc001hsn.2_Silent_p.V877V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	877	Ig-like 8.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGACTCTGTGGACTTCCGGC	0.667													A	228404967	G	A	228404967	2	1	185	1	0	0	0	0	0	0	0	1	10812	1335	47	4		4	OBSCN	1	228404967	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	21739960	228404967	20845654	22	97359											
MTR	4548	broad.mit.edu	37	chr1	237060413	237060413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgtggggaagatttccaagGatcaggtaagctagctgttg	14	6	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr1:237060413G>C	uc001hyi.3	+	32	4129	c.3706G>C	c.(3706-3708)GAT>CAT	p.D1236H	MTR_uc010pxw.1_Missense_Mutation_p.D829H|MTR_uc010pxx.1_Missense_Mutation_p.D1185H|MTR_uc010pxy.1_Missense_Mutation_p.D1090H	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1236	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	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)	GATTTCCAAGGATCAGGTAAG	0.403													C	237060413	G	C	237060413	3	2	185	1	0	0	0	0	1	0	0	0	9958	1174	41	5	3832	5	MTR	1	237060413	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	8655446	237060413	12190208	23	97360											
ALLC	55821	broad.mit.edu	37	chr2	3730541	3730541	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttattgctagctaaaatccGacgactggagttacttggtt	9	7	0	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:3730541G>C	uc010ewt.2	+	7	549	c.388G>C	c.(388-390)GAC>CAC	p.D130H		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	149							allantoicase activity			central_nervous_system(1)	1	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)		GCTAAAATCCGACGACTGGAG	0.428										HNSCC(21;0.051)			C	3730541	G	C	3730541	3	2	185	1	0	0	0	0	1	0	0	0	534	1058	37	5	410	5	ALLC	2	3730541	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		3730541	239468832	24	97361											
SLC5A6	8884	broad.mit.edu	37	chr2	27424276	27424276	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggagttgtgagcactGtaccataagtaagacaagga	14	5	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:27424276G>T	uc002rjd.2	-	15	1981	c.1590C>A	c.(1588-1590)TAC>TAA	p.Y530*	SLC5A6_uc010eyv.1_Nonsense_Mutation_p.Y530*	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	530	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TGTGAGCACTGTACCATAAGT	0.532													T	27424276	G	T	27424276	4	4	185	1	0	0	0	0	0	1	0	0	14669	1372	48	5	329	5	SLC5A6	2	27424276	Nonsense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	23693735	27424276	215775097	25	97362											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27888079	27888079	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgctaggagaagactcagAtgaagaagaggaaatggata	14	3	1	6			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:27888079A>T	uc002rlk.3	+	2	1220	c.938A>T	c.(937-939)GAT>GTT	p.D313V	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	313						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					GAAGACTCAGATGAAGAAGAG	0.433													T	27888079	A	T	27888079	3	4	185	1	0	0	0	0	1	0	0	0	14653	333	12	5	944	5	SLC4A1AP	2	27888079	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	463803	27888079	215311294	26	97363											
SOS1	6654	broad.mit.edu	37	chr2	39224431	39224431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtaaacagtaaggctgaTtttggtactgctggatctct	10	8	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:39224431T>C	uc002rrk.3	-	18	2968	c.2927A>G	c.(2926-2928)AAT>AGT	p.N976S	SOS1_uc002rrj.3_Missense_Mutation_p.N590S	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	976	Ras-GEF.				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			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				GTAAGGCTGATTTTGGTACTG	0.343									Noonan_syndrome				C	39224431	T	C	39224431	3	2	185	1	0	0	0	0	1	0	0	0	14936	1493	52	3	1098	3	SOS1	2	39224431	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	11336352	39224431	203974942	27	97364											
ANKRD53	79998	broad.mit.edu	37	chr2	71206308	71206308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccctgcctcgctcacCccgccccgcgctgaccccag	9	25	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:71206308C>T	uc002shl.3	+	2	453	c.252C>T	c.(250-252)ACC>ACT	p.T84T	ANKRD53_uc002shk.3_Silent_p.T84T|ANKRD53_uc002shm.3_Intron	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	84											0						CCTCGCTCACCCCGCCCCGCG	0.731													T	71206308	C	T	71206308	2	4	185	1	0	0	0	0	0	0	0	1	679	610	22	4		4	ANKRD53	2	71206308	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	31981877	71206308	171993065	28	97365											
DGUOK	1716	broad.mit.edu	37	chr2	74154045	74154045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcgtgggtgggatggccgCgggccgcctctttctaagtc	15	11	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:74154045C>T	uc002sjx.2	+	1	93	c.8C>T	c.(7-9)GCG>GTG	p.A3V	DGUOK_uc002sjy.2_Missense_Mutation_p.A3V|DGUOK_uc002sjz.2_RNA	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	deoxyguanosine kinase isoform a precursor	3					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor				0						GGGATGGCCGCGGGCCGCCTC	0.642													T	74154045	C	T	74154045	3	4	185	1	0	0	0	0	1	0	0	0	4475	768	27	1	10	1	DGUOK	2	74154045	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	2947737	74154045	169045328	29	97366											
REG1B	5968	broad.mit.edu	37	chr2	79313512	79313512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttttttgggtcatggaggCcaatccagacattgctgtca	10	10	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:79313512C>A	uc002sny.2	-	4	414	c.302G>T	c.(301-303)GGC>GTC	p.G101V	REG1B_uc010ffv.1_Missense_Mutation_p.G101V|REG1B_uc010ffw.2_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	101	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						GTCATGGAGGCCAATCCAGAC	0.507													A	79313512	C	A	79313512	3	1	185	1	0	0	0	0	1	0	0	0	13211	739	26	5	210	5	REG1B	2	79313512	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	5159467	79313512	163885861	30	97367											
LRP1B	53353	broad.mit.edu	37	chr2	141609267	141609267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcatcaagtgggggcaCgcacaggcagcactcctatt	11	12	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:141609267C>T	uc002tvj.1	-	28	5637	c.4665G>A	c.(4663-4665)GCG>GCA	p.A1555A	LRP1B_uc010fnl.1_Silent_p.A737A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1555	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		AGTGGGGGCACGCACAGGCAG	0.413										TSP Lung(27;0.18)			T	141609267	C	T	141609267	2	4	185	1	0	0	0	0	0	0	0	1	8955	523	19	1		1	LRP1B	2	141609267	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	62295755	141609267	101590106	31	97368											
ACVR1	90	broad.mit.edu	37	chr2	158634764	158634764	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcggagagcaactcccagcAggcaggctaaaagacatact	10	11	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:158634764A>T	uc002tzm.3	-	6	761	c.422T>A	c.(421-423)CTG>CAG	p.L141Q	ACVR1_uc002tzn.3_Missense_Mutation_p.L141Q|ACVR1_uc010fog.2_Missense_Mutation_p.L141Q	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	141	Helical; (Potential).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AACTCCCAGCAGGCAGGCTAA	0.493													T	158634764	A	T	158634764	3	4	185	1	0	0	0	0	1	0	0	0	220	188	7	5	1135	5	ACVR1	2	158634764	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	17025497	158634764	84564609	32	97369											
TTN	7273	broad.mit.edu	37	chr2	179597039	179597039	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcccttctttaacagctGtgatggctctaacttttcaa	5	11	4	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:179597039G>A	uc010zfg.1	-	54	13149	c.12925C>T	c.(12925-12927)CAG>TAG	p.Q4309*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q970*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5236							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAACAGCTGTGATGGCTCT	0.388													A	179597039	G	A	179597039	4	1	185	1	0	0	0	0	0	1	0	0	16732	1386	48	4	88096	4	TTN	2	179597039	Nonsense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	20962275	179597039	63602334	33	97370											
AOX1	316	broad.mit.edu	37	chr2	201485506	201485506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaccaggaacttttcttgaCttttgtgactagttcaagag	10	7	2	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:201485506C>A	uc002uvx.2	+	17	1939	c.1838C>A	c.(1837-1839)ACT>AAT	p.T613N	AOX1_uc010zhf.1_Missense_Mutation_p.T169N|AOX1_uc010fsu.2_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	613					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			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTTTTCTTGACTTTTGTGACT	0.443													A	201485506	C	A	201485506	3	1	185	1	0	0	0	0	1	0	0	0	729	565	20	5	1904	5	AOX1	2	201485506	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	21888467	201485506	41713867	34	97371											
NBEAL1	65065	broad.mit.edu	37	chr2	204003442	204003442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaattcagatccagttgcttCtaggattcattggaaggggt	11	6	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:204003442C>G	uc002uzt.3	+	30	5065	c.4732C>G	c.(4732-4734)CTA>GTA	p.L1578V	NBEAL1_uc002uzs.3_Missense_Mutation_p.L288V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1578							binding			ovary(1)|skin(1)	2						CCAGTTGCTTCTAGGATTCAT	0.383													G	204003442	C	G	204003442	3	3	185	1	0	0	0	0	1	0	0	0	10188	912	32	5	4846	5	NBEAL1	2	204003442	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	2517936	204003442	39195931	35	97372											
FN1	2335	broad.mit.edu	37	chr2	216259400	216259400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaagaatttccctgcTggccgtttgtaggggttgtg	12	9	0	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:216259400T>C	uc002vfa.2	-	24	3913	c.3647A>G	c.(3646-3648)CAG>CGG	p.Q1216R	FN1_uc002vfb.2_Missense_Mutation_p.Q1216R|FN1_uc002vfc.2_Missense_Mutation_p.Q1216R|FN1_uc002vfd.2_Missense_Mutation_p.Q1216R|FN1_uc002vfe.2_Missense_Mutation_p.Q1216R|FN1_uc002vff.2_Missense_Mutation_p.Q1216R|FN1_uc002vfg.2_Missense_Mutation_p.Q1216R|FN1_uc002vfh.2_Missense_Mutation_p.Q1216R|FN1_uc002vfi.2_Missense_Mutation_p.Q1216R|FN1_uc002vfj.2_Missense_Mutation_p.Q1216R|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1216	Fibronectin type-III 7.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	ATTTCCCTGCTGGCCGTTTGT	0.448													C	216259400	T	C	216259400	3	2	185	1	0	0	0	0	1	0	0	0	5962	1580	55	3	3878	3	FN1	2	216259400	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	12255958	216259400	26939973	36	97373											
FN1	2335	broad.mit.edu	37	chr2	216272916	216272916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgtcaggaggggcatcAggcgctaagaaagaaagaaa	15	6	2	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:216272916A>G	uc002vfa.2	-	17	2699	c.2433T>C	c.(2431-2433)CCT>CCC	p.P811P	FN1_uc002vfb.2_Silent_p.P811P|FN1_uc002vfc.2_Silent_p.P811P|FN1_uc002vfd.2_Silent_p.P811P|FN1_uc002vfe.2_Silent_p.P811P|FN1_uc002vff.2_Silent_p.P811P|FN1_uc002vfg.2_Silent_p.P811P|FN1_uc002vfh.2_Silent_p.P811P|FN1_uc002vfi.2_Silent_p.P811P|FN1_uc002vfj.2_Silent_p.P811P	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	811	Fibronectin type-III 3.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	GAGGGGCATCAGGCGCTAAGA	0.488													G	216272916	A	G	216272916	2	3	185	1	0	0	0	0	0	0	0	1	5962	175	7	3		3	FN1	2	216272916	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	13516	216272916	26926457	37	97374											
STK36	27148	broad.mit.edu	37	chr2	219563446	219563446	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagtgtctgcctcccctaGaaccatcgtctcgtttctct	6	16	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:219563446G>A	uc002viu.2	+	26	3445	c.3179G>A	c.(3178-3180)AGA>AAA	p.R1060K	STK36_uc002viv.2_Missense_Mutation_p.R1039K|STK36_uc002viw.2_Missense_Mutation_p.R238K|STK36_uc002vix.2_Missense_Mutation_p.R105K	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1060					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			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		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)		GCCTCCCCTAGAACCATCGTC	0.567													A	219563446	G	A	219563446	3	1	185	1	0	0	0	0	1	0	0	0	15301	942	33	4	3277	4	STK36	2	219563446	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	3290530	219563446	23635927	38	97375											
PER2	8864	broad.mit.edu	37	chr2	239181794	239181794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctccacaggggtgacCctcgctggacatcagcagct	12	14	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr2:239181794C>T	uc002vyc.2	-	5	724	c.487G>A	c.(487-489)GGT>AGT	p.G163S	PER2_uc010znv.1_Missense_Mutation_p.G163S|PER2_uc010znw.1_Missense_Mutation_p.G163S|PER2_uc010fyx.1_Missense_Mutation_p.G163S	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	163					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		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)		CAGGGGTGACCCTCGCTGGAC	0.567													T	239181794	C	T	239181794	3	4	185	1	0	0	0	0	1	0	0	0	11730	623	22	4	3356	4	PER2	2	239181794	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	19618348	239181794	4017579	39	97376											
SEMA5B	54437	broad.mit.edu	37	chr3	122631107	122631107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtgcggggctggtgcaGgaacgggtgcgttgatagtg	22	5	0	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr3:122631107G>A	uc003efz.1	-	19	3112	c.2808C>T	c.(2806-2808)TCC>TCT	p.S936S	SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.S936S|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	936	Extracellular (Potential).|TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGCTGGTGCAGGAACGGGTGC	0.637													A	122631107	G	A	122631107	2	1	185	1	0	0	0	0	0	0	0	1	14038	987	35	4		4	SEMA5B	3	122631107	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08		122631107	75391323	40	97377											
TOPBP1	11073	broad.mit.edu	37	chr3	133374275	133374275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacacagattatgcaaccaaGaaaaataggacacttgaaat	6	8	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr3:133374275G>C	uc003eps.2	-	6	733	c.601C>G	c.(601-603)CTT>GTT	p.L201V		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	201	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATGCAACCAAGAAAAATAGGA	0.343								Other_conserved_DNA_damage_response_genes					C	133374275	G	C	133374275	3	2	185	1	0	0	0	0	1	0	0	0	16366	942	33	5	4059	5	TOPBP1	3	133374275	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	10743168	133374275	64648155	41	97378											
GPR149	344758	broad.mit.edu	37	chr3	154146753	154146753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcggctcctccgaacAcagcaatcggtgagtgagtg	13	12	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr3:154146753A>G	uc003faa.2	-	1	752	c.652T>C	c.(652-654)TGT>CGT	p.C218R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	218	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTCCGAACACAGCAATCGG	0.577													G	154146753	A	G	154146753	3	3	185	1	0	0	0	0	1	0	0	0	6654	159	6	3	1559	3	GPR149	3	154146753	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	20772478	154146753	43875677	42	97379											
PLCH1	23007	broad.mit.edu	37	chr3	155203145	155203145	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaaacttaaagcatcttacCtagagagttttcttttcctt	5	8	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr3:155203145C>G	uc011bok.1	-	22	3275	c.2998G>C	c.(2998-3000)GCA>CCA	p.A1000P	PLCH1_uc011boj.1_Missense_Mutation_p.V1000L|PLCH1_uc011bol.1_Missense_Mutation_p.A962P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1000					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423													G	155203145	C	G	155203145	3	3	185	1	0	0	0	0	1	0	0	0	12037	695	24	5	2106	5	PLCH1	3	155203145	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	1056392	155203145	42819285	43	97380											
SI	6476	broad.mit.edu	37	chr3	164733853	164733853	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctttccatgtagtcaatgtCtgtgtactgaacatcctgaa	7	10	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr3:164733853C>G	uc003fei.2	-	32	3837	c.3775G>C	c.(3775-3777)GAC>CAC	p.D1259H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1259	Sucrase.|Lumenal.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTCAATGTCTGTGTACTGA	0.328										HNSCC(35;0.089)			G	164733853	C	G	164733853	3	3	185	1	0	0	0	0	1	0	0	0	14297	913	32	5	1776	5	SI	3	164733853	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	9530708	164733853	33288577	44	97381											
HS3ST1	9957	broad.mit.edu	37	chr4	11401042	11401042	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagttctgcatgtgcacgtgGtagaggctgcggttgagggc	17	8	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr4:11401042G>C	uc003gmq.2	-	2	911	c.588C>G	c.(586-588)TAC>TAG	p.Y196*		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	196						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						TGTGCACGTGGTAGAGGCTGC	0.597													C	11401042	G	C	11401042	4	2	185	1	0	0	0	0	0	1	0	0	7363	1256	44	5	339	5	HS3ST1	4	11401042	Nonsense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		11401042	179753234	45	97382											
PACRGL	133015	broad.mit.edu	37	chr4	20709483	20709483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatttactctaaaggaggtAttccttgcaggtaaaatcaa	7	7	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr4:20709483A>G	uc010iek.2	+	4	656	c.265A>G	c.(265-267)ATT>GTT	p.I89V	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.I137V|PACRGL_uc003gpz.2_Missense_Mutation_p.I89V|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.I89V|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	89							binding				0						TAAAGGAGGTATTCCTTGCAG	0.279													G	20709483	A	G	20709483	3	3	185	1	0	0	0	0	1	0	0	0	11371	449	16	3	275	3	PACRGL	4	20709483	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	9308441	20709483	170444793	46	97383											
ATP8A1	10396	broad.mit.edu	37	chr4	42416720	42416720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgttcttgagcagttgCgccctctcggtcaggctgca	12	12	3	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr4:42416720C>T	uc003gwr.2	-	36	3553	c.3321G>A	c.(3319-3321)GCG>GCA	p.A1107A	ATP8A1_uc003gwq.2_Silent_p.A333A|ATP8A1_uc003gws.2_Silent_p.A1092A	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1107	Cytoplasmic (Potential).				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			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	TGAGCAGTTGCGCCCTCTCGG	0.473													T	42416720	C	T	42416720	2	4	185	1	0	0	0	0	0	0	0	1	1192	755	27	1		1	ATP8A1	4	42416720	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	21707237	42416720	148737556	47	97384											
FRYL	285527	broad.mit.edu	37	chr4	48524956	48524956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctggcttgctgtaagtgCcgcttcttcttccgaggact	10	11	3	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr4:48524956C>T	uc003gyh.1	-	54	8088	c.7483G>A	c.(7483-7485)GCA>ACA	p.A2495T	FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.A1191T|FRYL_uc003gyi.1_Missense_Mutation_p.A1383T|FRYL_uc003gyj.1_Missense_Mutation_p.A790T	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2495					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCTGTAAGTGCCGCTTCTTCT	0.483													T	48524956	C	T	48524956	3	4	185	1	0	0	0	0	1	0	0	0	6064	739	26	2	1602	2	FRYL	4	48524956	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	6108236	48524956	142629320	48	97385											
FAT1	2195	broad.mit.edu	37	chr4	187540371	187540371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagactgtaaaatggcttcaGggcgtgccggtgcaggtttg	15	7	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr4:187540371G>T	uc003izf.2	-	10	7557	c.7369C>A	c.(7369-7371)CTG>ATG	p.L2457M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2457	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AATGGCTTCAGGGCGTGCCGG	0.443										HNSCC(5;0.00058)			T	187540371	G	T	187540371	3	4	185	1	0	0	0	0	1	0	0	0	5689	991	35	5	6469	5	FAT1	4	187540371	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	139015415	187540371	3613905	49	97386											
SEMA5A	9037	broad.mit.edu	37	chr5	9197366	9197366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccagagaaggcctgcgCgatggcgctcaggttgaaga	17	10	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:9197366C>T	uc003jek.2	-	10	1694	c.982G>A	c.(982-984)GCG>ACG	p.A328T		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	328	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AAGGCCTGCGCGATGGCGCTC	0.607													T	9197366	C	T	9197366	3	4	185	1	0	0	0	0	1	0	0	0	14037	768	27	1	2298	1	SEMA5A	5	9197366	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08		9197366	171717894	50	97387											
CDH9	1007	broad.mit.edu	37	chr5	26915754	26915754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgactccagacatttcAggaacactggcagtgtataa	8	11	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:26915754A>G	uc003jgs.1	-	3	676	c.507T>C	c.(505-507)CCT>CCC	p.P169P	CDH9_uc010iug.2_Silent_p.P169P	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	169	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CAGACATTTCAGGAACACTGG	0.348													G	26915754	A	G	26915754	2	3	185	1	0	0	0	0	0	0	0	1	3117	175	7	3		3	CDH9	5	26915754	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	17718388	26915754	153999506	51	97388											
PDZD2	23037	broad.mit.edu	37	chr5	32089228	32089228	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaggctcagcctcaagGgcaaggccaaagtcaactct	11	11	4	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:32089228G>C	uc003jhl.2	+	20	6062	c.5674G>C	c.(5674-5676)GGC>CGC	p.G1892R	PDZD2_uc003jhm.2_Missense_Mutation_p.G1892R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1892					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CAGCCTCAAGGGCAAGGCCAA	0.547													C	32089228	G	C	32089228	3	2	185	1	0	0	0	0	1	0	0	0	11701	1232	43	5	5748	5	PDZD2	5	32089228	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	5173474	32089228	148826032	52	97389											
ITGA1	3672	broad.mit.edu	37	chr5	52206033	52206033	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcctggaacctattaagcaGacgtgctgttcatctcggca	10	11	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:52206033G>C	uc003jou.2	+	14	1693	c.1641G>C	c.(1639-1641)CAG>CAC	p.Q547H	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.Q78H	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	547	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTATTAAGCAGACGTGCTGTT	0.408													C	52206033	G	C	52206033	3	2	185	1	0	0	0	0	1	0	0	0	7872	933	33	5	1695	5	ITGA1	5	52206033	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	20116805	52206033	128709227	53	97390											
CCDC125	202243	broad.mit.edu	37	chr5	68595886	68595886	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttttatcacagcacatgtTttcctgagccatcttctgct	5	12	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:68595886T>A	uc003jvv.1	-	7	812	c.769A>T	c.(769-771)AAC>TAC	p.N257Y	CCDC125_uc003jvx.1_Missense_Mutation_p.N256Y|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.N132Y	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	257						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CAGCACATGTTTTCCTGAGCC	0.438													A	68595886	T	A	68595886	3	1	185	1	0	0	0	0	1	0	0	0	2761	1841	64	5	786	5	CCDC125	5	68595886	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	16389853	68595886	112319374	54	97391											
TSLP	85480	broad.mit.edu	37	chr5	110411751	110411751	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggcgtcgcttcaatcgAcctttactgaaacaacagta	8	10	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:110411751A>T	uc003kpb.2	+	4	658	c.459A>T	c.(457-459)CGA>CGT	p.R153R	TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_Silent_p.R57R	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1	153						extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTTCAATCGACCTTTACTGA	0.353													T	110411751	A	T	110411751	2	4	185	1	0	0	0	0	0	0	0	1	16625	262	10	5		5	TSLP	5	110411751	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	41815865	110411751	70503509	55	97392											
SNCAIP	9627	broad.mit.edu	37	chr5	121786900	121786900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagccctgacagtacTgctgcccagaaagttgccac	9	16	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:121786900T>C	uc003ksw.1	+	10	2564	c.2358T>C	c.(2356-2358)ACT>ACC	p.T786T	SNCAIP_uc011cwl.1_Silent_p.T344T|SNCAIP_uc003ksx.1_Silent_p.T833T|SNCAIP_uc003ksy.1_Silent_p.T420T|SNCAIP_uc003ksz.1_Silent_p.T420T|SNCAIP_uc010jcu.2_Silent_p.T382T|SNCAIP_uc011cwm.1_Silent_p.T420T|SNCAIP_uc003kta.1_Silent_p.T418T|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.T480T|SNCAIP_uc010jcx.1_Silent_p.T726T|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.T302T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	786					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			ovary(1)|pancreas(1)	2		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)		CTGACAGTACTGCTGCCCAGA	0.527													C	121786900	T	C	121786900	2	2	185	1	0	0	0	0	0	0	0	1	14841	1567	55	3		3	SNCAIP	5	121786900	Silent	SNP	T	TCGA-CG-5717-01A-11D-1600-08	11375149	121786900	59128360	56	97393											
CTNNA1	1495	broad.mit.edu	37	chr5	138264953	138264966	+	Frame_Shift_Del	DEL	GACTCTGACTTTGA	GACTCTGACTTTGA	-													agacccctgaggagttggatGactctgactttgagacagaa							TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:138264952_138264965TGACTCTGACTTTGA>T	uc003ldh.3	+	13	2012_2025	c.1917_1930TGACTCTGACTTTGA>T	c.(1915-1932)gatgactctgactttgagfs	p.D639fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.D536fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.D516fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.D337fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.D639fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.D269fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	639					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)			AGGAGTTGGATGACTCTGACTTTGAGACAGAAGA	0.579													-	138264966	GACTCTGACTTTGA	-	138264953	7	5	185	1	0	1	0	1	0	0	0	0	4012	1290	45	0	1968	0	CTNNA1	5	138264953	Frame_Shift_Del	DEL	GACTCTGACTTTGA	TCGA-CG-5717-01A-11D-1600-08	16478053	138264953	42650307	57	97394											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070195	176070196	+	Missense_Mutation	DNP	TG	TG	GC													aaactctcccaggactttgcTgtctctgagagggaaggccc							TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:176070195_176070196TG>GC	uc010jkf.1	+	4	712_713	c.128_129TG>GC	c.(127-129)CTG>CGC	p.L43R		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	43					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|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)			AGGACTTTGCTGTCTCTGAGAG	0.411													GC	176070196	TG	GC	176070195	3	3	185	1	0	0	0	0	1	0	0	0	5029	1580	55	5	134	5	EIF4E1B	5	176070195	Missense_Mutation	DNP	TG	TCGA-CG-5717-01A-11D-1600-08	37805242	176070195	4845065	58	97395											
UIMC1	51720	broad.mit.edu	37	chr5	176370441	176370441	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatacctggttactggatgAgaaggtagaaatagctactt	12	5	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr5:176370441A>T	uc011dfp.1	-	10	1659	c.1492T>A	c.(1492-1494)TCA>ACA	p.S498T	UIMC1_uc003mfc.1_Missense_Mutation_p.S375T|UIMC1_uc003mfd.1_Missense_Mutation_p.S128T|UIMC1_uc003mfg.1_Missense_Mutation_p.S217T|UIMC1_uc003mfe.1_RNA|UIMC1_uc003mff.1_Missense_Mutation_p.S128T	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	498	Necessary for interaction with NR6A1 C- terminus.				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			ovary(3)|skin(1)	4	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)			TTACTGGATGAGAAGGTAGAA	0.438													T	176370441	A	T	176370441	3	4	185	1	0	0	0	0	1	0	0	0	16968	304	11	5	691	5	UIMC1	5	176370441	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	300246	176370441	4544819	59	97396											
BMP6	654	broad.mit.edu	37	chr6	7845400	7845400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacaaggagttctcccctcGtcagcgacaccacaaagagt	9	14	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:7845400G>A	uc003mxu.3	+	2	870	c.692G>A	c.(691-693)CGT>CAT	p.R231H		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	231					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TTCTCCCCTCGTCAGCGACAC	0.468													A	7845400	G	A	7845400	3	1	185	1	0	0	0	0	1	0	0	0	1464	1145	40	1	698	1	BMP6	6	7845400	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		7845400	163269667	60	97397											
HIVEP1	3096	broad.mit.edu	37	chr6	12123821	12123821	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaagttcagttggccccagCgtagtgaaaccttgtcaaaa	10	9	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:12123821C>G	uc003nac.2	+	4	3972	c.3793C>G	c.(3793-3795)CGT>GGT	p.R1265G	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1265					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGGCCCCAGCGTAGTGAAAC	0.458													G	12123821	C	G	12123821	3	3	185	1	0	0	0	0	1	0	0	0	7186	768	27	5	3803	5	HIVEP1	6	12123821	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	4278421	12123821	158991246	61	97398											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250489	26250489	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgatagtcactcgcttGgcgtggatagcacacaggtt	13	9	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:26250489G>C	uc003nhg.1	-	1	347	c.345C>G	c.(343-345)GCC>GCG	p.A115A	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	115					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						TCACTCGCTTGGCGTGGATAG	0.587											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	26250489	G	C	26250489	2	2	185	1	0	0	0	0	0	0	0	1	7160	1335	47	5		5	HIST1H3F	6	26250489	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	14126668	26250489	144864578	62	97399											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115020	27115020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgcctgctccgcaaggGtaattatgccgagcgggttg	14	12	0	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:27115020G>A	uc003niz.2	+	1	113	c.113G>A	c.(112-114)GGT>GAT	p.G38D	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	38					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCCGCAAGGGTAATTATGCC	0.667													A	27115020	G	A	27115020	3	1	185	1	0	0	0	0	1	0	0	0	7134	1261	44	4	115	4	HIST1H2AH	6	27115020	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	864531	27115020	144000047	63	97400											
ZNF311	282890	broad.mit.edu	37	chr6	28963343	28963343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttacagttatgacgaaagGctttcccacactcctcacac	6	14	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:28963343G>T	uc003nlu.2	-	7	1949	c.1436C>A	c.(1435-1437)GCC>GAC	p.A479D	ZNF311_uc011dlk.1_Missense_Mutation_p.A387D|ZNF311_uc003nlv.2_Missense_Mutation_p.A387D	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	479	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ATGACGAAAGGCTTTCCCACA	0.493													T	28963343	G	T	28963343	3	4	185	1	0	0	0	0	1	0	0	0	17831	1203	42	5	568	5	ZNF311	6	28963343	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	1848323	28963343	142151724	64	97401											
VARS2	57176	broad.mit.edu	37	chr6	30889025	30889025	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggactggtgtgtctcccgGcagctgtggtggggccatca	17	10	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:30889025G>C	uc003nsc.1	+	16	2207	c.1575G>C	c.(1573-1575)CGG>CGC	p.R525R	VARS2_uc011dmx.1_Silent_p.R525R|VARS2_uc011dmy.1_Silent_p.R385R|VARS2_uc011dmz.1_Silent_p.R555R|VARS2_uc011dna.1_Silent_p.R523R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	525					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						GTGTCTCCCGGCAGCTGTGGT	0.602													C	30889025	G	C	30889025	2	2	185	1	0	0	0	0	0	0	0	1	17121	1190	42	5		5	VARS2	6	30889025	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	1925682	30889025	140226042	65	97402											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34802057	34802057	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attgtcaattctatcaccatCaagattcactccaaggcctt	4	12	5	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:34802057C>G	uc003oju.3	+	5	636	c.402C>G	c.(400-402)ATC>ATG	p.I134M	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	134										ovary(3)	3						CTATCACCATCAAGATTCACT	0.463													G	34802057	C	G	34802057	3	3	185	1	0	0	0	0	1	0	0	0	16965	816	29	5	420	5	UHRF1BP1	6	34802057	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	3913032	34802057	136313010	66	97403											
MEP1A	4224	broad.mit.edu	37	chr6	46787351	46787351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataaggccatcatagaacacGagatcctgcatgctttggga	10	9	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:46787351G>A	uc010jzh.1	+	7	508	c.466G>A	c.(466-468)GAG>AAG	p.E156K	MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.E184K|MEP1A_uc011dwi.1_Missense_Mutation_p.E56K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	156	Extracellular (Potential).|Metalloprotease.	By similarity.			digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			CATAGAACACGAGATCCTGCA	0.478													A	46787351	G	A	46787351	3	1	185	1	0	0	0	0	1	0	0	0	9475	1059	37	1	492	1	MEP1A	6	46787351	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	11985294	46787351	124327716	67	97404											
GPR110	266977	broad.mit.edu	37	chr6	46996775	46996775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgaagaaagaaatgAgccacagcactccaactttc	9	9	0	5			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:46996775A>G	uc003oyt.2	-	2	222	c.23T>C	c.(22-24)CTC>CCC	p.L8P	GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.L8P	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	8					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						GAAAGAAATGAGCCACAGCAC	0.507													G	46996775	A	G	46996775	3	3	185	1	0	0	0	0	1	0	0	0	6627	304	11	3	2815	3	GPR110	6	46996775	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	209424	46996775	124118292	68	97405											
PHF3	23469	broad.mit.edu	37	chr6	64410247	64410247	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccttccagatattatTtaaaaaagtactgaaaggag	6	5	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:64410247T>A	uc003pep.1	+	8	3016	c.2990T>A	c.(2989-2991)TTT>TAT	p.F997Y	PHF3_uc010kah.1_Missense_Mutation_p.F811Y|PHF3_uc003pen.2_Missense_Mutation_p.F909Y|PHF3_uc011dxs.1_Missense_Mutation_p.F266Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	997	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			CAGATATTATTTAAAAAAGTA	0.328													A	64410247	T	A	64410247	3	1	185	1	0	0	0	0	1	0	0	0	11836	1841	64	5	3020	5	PHF3	6	64410247	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	17413472	64410247	106704820	69	97406											
FRK	2444	broad.mit.edu	37	chr6	116289790	116289790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtcacttgtcttggtGtagtggctcacaaattcgtt	11	9	3	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:116289790G>A	uc003pwi.1	-	3	1026	c.579C>T	c.(577-579)TAC>TAT	p.Y193Y		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	193	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Y193*(1)		ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGTCTTGGTGTAGTGGCTCA	0.393													A	116289790	G	A	116289790	2	1	185	1	0	0	0	0	0	0	0	1	6048	1372	48	4		4	FRK	6	116289790	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	51879543	116289790	54825277	70	97407											
GJA1	2697	broad.mit.edu	37	chr6	121768767	121768767	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgctgagccctgccaaAgactgtgggtctcaaaaata	12	10	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:121768767A>G	uc003pyr.2	+	2	1024	c.774A>G	c.(772-774)AAA>AAG	p.K258K	GJA1_uc011ebo.1_Silent_p.K159K|GJA1_uc011ebp.1_Silent_p.K46K	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	258	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GCCCTGCCAAAGACTGTGGGT	0.517													G	121768767	A	G	121768767	2	3	185	1	0	0	0	0	0	0	0	1	6400	69	3	3		3	GJA1	6	121768767	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	5478977	121768767	49346300	71	97408											
C6orf118	168090	broad.mit.edu	37	chr6	165693550	165693550	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcagccacttgagcgttatCttctgtttcctctgatttta	6	10	4	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr6:165693550C>G	uc003qum.3	-	9	1442	c.1406G>C	c.(1405-1407)AGA>ACA	p.R469T		NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	469											0		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)		TGAGCGTTATCTTCTGTTTCC	0.323													G	165693550	C	G	165693550	3	3	185	1	0	0	0	0	1	0	0	0	2323	913	32	5	7	5	C6orf118	6	165693550	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	43924783	165693550	5421517	72	97409											
SDK1	221935	broad.mit.edu	37	chr7	3991461	3991461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccatcagcaacccgacGtccgcggacaccgggccata	9	18	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:3991461G>A	uc003smx.2	+	7	1198	c.1059G>A	c.(1057-1059)ACG>ACA	p.T353T		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	353	Ig-like C2-type 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GCAACCCGACGTCCGCGGACA	0.617													A	3991461	G	A	3991461	2	1	185	1	0	0	0	0	0	0	0	1	13968	1132	40	1		1	SDK1	7	3991461	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08		3991461	155147202	73	97410											
SP4	6671	broad.mit.edu	37	chr7	21470408	21470408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgagcgttgccaacctggGtgctgcaggtgttcaagtgc	15	9	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:21470408G>T	uc003sva.2	+	3	1806	c.1625G>T	c.(1624-1626)GGT>GTT	p.G542V	SP4_uc003svb.2_Missense_Mutation_p.G229V	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	542					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						GCCAACCTGGGTGCTGCAGGT	0.458													T	21470408	G	T	21470408	3	4	185	1	0	0	0	0	1	0	0	0	14966	1261	44	5	1635	5	SP4	7	21470408	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	17478947	21470408	137668255	74	97411											
DNAH11	8701	broad.mit.edu	37	chr7	21628890	21628890	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgaaatgaccactttgcttGatcaatttgaaagtcgtatc	7	7	1	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:21628890G>C	uc003svc.2	+	12	2069	c.2038G>C	c.(2038-2040)GAT>CAT	p.D680H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	680	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CACTTTGCTTGATCAATTTGA	0.323									Kartagener_syndrome				C	21628890	G	C	21628890	3	2	185	1	0	0	0	0	1	0	0	0	4599	1290	45	5	2084	5	DNAH11	7	21628890	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	158482	21628890	137509773	75	97412											
AVL9	23080	broad.mit.edu	37	chr7	32599065	32599065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatggcatgcccctggccAtcttcacaaaggtaaagtgt	10	10	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:32599065A>G	uc003tcv.1	+	10	1350	c.1204A>G	c.(1204-1206)ATC>GTC	p.I402V	AVL9_uc011kai.1_Missense_Mutation_p.I402V|AVL9_uc010kwj.1_Missense_Mutation_p.I243V	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	402						integral to membrane					0						GCCCCTGGCCATCTTCACAAA	0.388													G	32599065	A	G	32599065	3	3	185	1	0	0	0	0	1	0	0	0	1228	217	8	3	1242	3	AVL9	7	32599065	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	10970175	32599065	126539598	76	97413											
DMTF1	9988	broad.mit.edu	37	chr7	86795810	86795810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccattagaagcggatgaaAtagactcagaagatagtatt	9	5	1	5			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:86795810A>G	uc003uih.2	+	4	447	c.121A>G	c.(121-123)ATA>GTA	p.I41V	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_5'UTR|DMTF1_uc003uik.2_Intron|DMTF1_uc003uil.2_Missense_Mutation_p.I41V|DMTF1_uc003uim.1_Missense_Mutation_p.I41V|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	41	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AGCGGATGAAATAGACTCAGA	0.333													G	86795810	A	G	86795810	3	3	185	1	0	0	0	0	1	0	0	0	4592	101	4	3	127	3	DMTF1	7	86795810	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	54196745	86795810	72342853	77	97414											
SAMD9	54809	broad.mit.edu	37	chr7	92733244	92733244	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttgttggtttagaagaatCtgcacagttttgaatcattg	9	5	2	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:92733244C>G	uc003umf.2	-	3	2423	c.2167G>C	c.(2167-2169)GAT>CAT	p.D723H	SAMD9_uc003umg.2_Missense_Mutation_p.D723H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	723						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	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)			TTAGAAGAATCTGCACAGTTT	0.383													G	92733244	C	G	92733244	3	3	185	1	0	0	0	0	1	0	0	0	13826	913	32	5	2606	5	SAMD9	7	92733244	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	5937434	92733244	66405419	78	97415											
TRRAP	8295	broad.mit.edu	37	chr7	98546232	98546232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgatcaagttcctgactcGacatccctcgcagacagtgg	9	14	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:98546232G>A	uc003upp.2	+	34	4900	c.4691G>A	c.(4690-4692)CGA>CAA	p.R1564Q	TRRAP_uc011kis.1_Missense_Mutation_p.R1546Q|TRRAP_uc003upr.2_Missense_Mutation_p.R1263Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1564					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			TTCCTGACTCGACATCCCTCG	0.532													A	98546232	G	A	98546232	3	1	185	1	0	0	0	0	1	0	0	0	16598	1058	37	1	4763	1	TRRAP	7	98546232	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	5812988	98546232	60592431	79	97416											
CYP3A43	64816	broad.mit.edu	37	chr7	99453307	99453307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaaaaattccattgaaaGgatgaaagaaagtcgcctca	7	6	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:99453307G>A	uc003urx.1	+	8	867	c.764G>A	c.(763-765)AGG>AAG	p.R255K	CYP3A43_uc003ury.1_Missense_Mutation_p.R255K|CYP3A43_uc003urz.1_Missense_Mutation_p.R255K|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.R145K|CYP3A43_uc003usb.1_Intron	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	255			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TCCATTGAAAGGATGAAAGAA	0.234													A	99453307	G	A	99453307	3	1	185	1	0	0	0	0	1	0	0	0	4179	1000	35	4	794	4	CYP3A43	7	99453307	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	907075	99453307	59685356	80	97417											
FBXO24	26261	broad.mit.edu	37	chr7	100187902	100187902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggcgtgtggagacgcAtctgtcgcagactcagtccg	16	10	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:100187902A>G	uc003uvm.1	+	3	537	c.244A>G	c.(244-246)ATC>GTC	p.I82V	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.I82V|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.I120V|FBXO24_uc011kka.1_Missense_Mutation_p.I70V	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	82	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGGAGACGCATCTGTCGCAG	0.587													G	100187902	A	G	100187902	3	3	185	1	0	0	0	0	1	0	0	0	5735	217	8	3	411	3	FBXO24	7	100187902	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	734595	100187902	58950761	81	97418											
MUC17	140453	broad.mit.edu	37	chr7	100677750	100677750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactcctttgaccacttctaCtgaagccagttcacctcctc	4	17	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:100677750C>G	uc003uxp.1	+	3	3106	c.3053C>G	c.(3052-3054)ACT>AGT	p.T1018S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1018	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACTTCTACTGAAGCCAGT	0.517													G	100677750	C	G	100677750	3	3	185	1	0	0	0	0	1	0	0	0	9974	565	20	5	3063	5	MUC17	7	100677750	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	489848	100677750	58460913	82	97419											
PSMC2	5701	broad.mit.edu	37	chr7	103004686	103004686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactctgtgcgcgggcagttGctaatcggactgatgcgtgc	14	11	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:103004686G>C	uc003vbs.2	+	8	758	c.688G>C	c.(688-690)GCT>CCT	p.A230P	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A93P	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	230					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						GCGGGCAGTTGCTAATCGGAC	0.488													C	103004686	G	C	103004686	3	2	185	1	0	0	0	0	1	0	0	0	12686	1319	46	5	718	5	PSMC2	7	103004686	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	2326936	103004686	56133977	83	97420											
RNF133	168433	broad.mit.edu	37	chr7	122338599	122338599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttatagatgatcactccaCtggctcccttctcagttgcc	7	14	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:122338599C>T	uc003vkj.1	-	1	610	c.374G>A	c.(373-375)AGT>AAT	p.S125N	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	125	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						GATCACTCCACTGGCTCCCTT	0.453													T	122338599	C	T	122338599	3	4	185	1	0	0	0	0	1	0	0	0	13439	565	20	4	760	4	RNF133	7	122338599	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	19333913	122338599	36800064	84	97421											
OR2A2	442361	broad.mit.edu	37	chr7	143806809	143806809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggggaatggggtcatctTtgggattatctgcctggact	15	7	3	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr7:143806809T>G	uc011ktz.1	+	1	134	c.134T>G	c.(133-135)TTT>TGT	p.F45C		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GGGGTCATCTTTGGGATTATC	0.512													G	143806809	T	G	143806809	3	3	185	1	0	0	0	0	1	0	0	0	10977	1841	64	5	136	5	OR2A2	7	143806809	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	21468210	143806809	15331854	85	97422											
EFHA2	286097	broad.mit.edu	37	chr8	16935310	16935310	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaattaaatcaaatgctcGcagaaacaccaccagtttgg	8	9	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:16935310G>C	uc003wxd.2	+	4	628	c.586G>C	c.(586-588)GCA>CCA	p.A196P		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	196						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TCAAATGCTCGCAGAAACACC	0.308													C	16935310	G	C	16935310	3	2	185	1	0	0	0	0	1	0	0	0	4944	1087	38	5	600	5	EFHA2	8	16935310	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		16935310	129428712	86	97423											
XPO7	23039	broad.mit.edu	37	chr8	21856712	21856712	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggctgctctcagtgggagtTacgtcaatttcggagtcttt	12	8	3	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:21856712T>A	uc003xaa.3	+	23	2641	c.2539T>A	c.(2539-2541)TAC>AAC	p.Y847N	XPO7_uc010lti.2_Missense_Mutation_p.Y856N|XPO7_uc010ltk.2_Missense_Mutation_p.Y848N	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	847					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGTGGGAGTTACGTCAATTT	0.512													A	21856712	T	A	21856712	3	1	185	1	0	0	0	0	1	0	0	0	17446	1754	61	5	2681	5	XPO7	8	21856712	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	4921402	21856712	124507310	87	97424											
XPO7	23039	broad.mit.edu	37	chr8	21856729	21856729	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttacgtcaatttcggagtCtttcgtctctatggagacga	10	8	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:21856729C>G	uc003xaa.3	+	23	2658	c.2556C>G	c.(2554-2556)GTC>GTG	p.V852V	XPO7_uc010lti.2_Silent_p.V861V|XPO7_uc010ltk.2_Silent_p.V853V	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	852					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATTTCGGAGTCTTTCGTCTCT	0.507													G	21856729	C	G	21856729	2	3	185	1	0	0	0	0	0	0	0	1	17446	900	32	5		5	XPO7	8	21856729	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	17	21856729	124507293	88	97425											
CHRNA6	8973	broad.mit.edu	37	chr8	42611877	42611877	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatccatagggcaggaactCttaaaaatagctggtggagt	11	6	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:42611877C>G	uc003xpj.2	-	5	511	c.465G>C	c.(463-465)AAG>AAC	p.K155N	CHRNA6_uc011lcw.1_Missense_Mutation_p.K140N	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	155	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	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)			GGCAGGAACTCTTAAAAATAG	0.398													G	42611877	C	G	42611877	3	3	185	1	0	0	0	0	1	0	0	0	3387	912	32	5	1027	5	CHRNA6	8	42611877	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	20755148	42611877	103752145	89	97426											
POTEA	340441	broad.mit.edu	37	chr8	43173685	43173685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctggcaatggtgaTggtggattagttccacaaag	14	7	0	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:43173685T>C	uc003xpz.1	+	9	1150	c.1107T>C	c.(1105-1107)GAT>GAC	p.D369D	POTEA_uc003xqa.1_Silent_p.D323D	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	369										ovary(1)	1						GCAATGGTGATGGTGGATTAG	0.408													C	43173685	T	C	43173685	2	2	185	1	0	0	0	0	0	0	0	1	12261	1461	51	3		3	POTEA	8	43173685	Silent	SNP	T	TCGA-CG-5717-01A-11D-1600-08	561808	43173685	103190337	90	97427											
CA8	767	broad.mit.edu	37	chr8	61192289	61192289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatggtatgtccatcaTtggtgacttcacagtctcgg	10	10	3	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:61192289T>C	uc003xtz.1	-	2	499	c.251A>G	c.(250-252)AAT>AGT	p.N84S	CA8_uc003xua.1_Missense_Mutation_p.N84S|CA8_uc003xub.2_Missense_Mutation_p.N84S	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	84					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				ATGTCCATCATTGGTGACTTC	0.423													C	61192289	T	C	61192289	3	2	185	1	0	0	0	0	1	0	0	0	2523	1493	52	3	649	3	CA8	8	61192289	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	18018604	61192289	85171733	91	97428											
CRISPLD1	83690	broad.mit.edu	37	chr8	75898238	75898238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattatgaagtgtaccgcgCgggagtggctcagagtaacc	13	9	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:75898238C>T	uc003yan.2	+	2	391	c.16C>T	c.(16-18)CGG>TGG	p.R6W		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	6						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGTACCGCGCGGGAGTGGCT	0.458													T	75898238	C	T	75898238	3	4	185	1	0	0	0	0	1	0	0	0	3882	759	27	1	18	1	CRISPLD1	8	75898238	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	14705949	75898238	70465784	92	97429											
ZFHX4	79776	broad.mit.edu	37	chr8	77690516	77690516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgtgtgtgattacaccAccaaggtcaagttgaatctg	11	9	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:77690516A>G	uc003yav.2	+	4	3475	c.3088A>G	c.(3088-3090)ACC>GCC	p.T1030A	ZFHX4_uc003yau.1_Missense_Mutation_p.T1056A|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1030A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1030	C2H2-type 7.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGATTACACCACCAAGGTCAA	0.527										HNSCC(33;0.089)			G	77690516	A	G	77690516	3	3	185	1	0	0	0	0	1	0	0	0	17632	159	6	3	3176	3	ZFHX4	8	77690516	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	1792278	77690516	68673506	93	97430											
KLF10	7071	broad.mit.edu	37	chr8	103663556	103663556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtctggtgccattcgggCtcaccaccggaggctttgaa	13	11	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr8:103663556C>T	uc011lhk.1	-	3	1158	c.1004G>A	c.(1003-1005)AGC>AAC	p.S335N	KLF10_uc011lhj.1_Missense_Mutation_p.S324N	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	335					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GCCATTCGGGCTCACCACCGG	0.552													T	103663556	C	T	103663556	3	4	185	1	0	0	0	0	1	0	0	0	8338	797	28	2	446	2	KLF10	8	103663556	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	25973040	103663556	42700466	94	97431											
TMC1	117531	broad.mit.edu	37	chr9	75404223	75404223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacacccttgggtggtgggAaaaaaatgaagttcgtctct	12	7	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr9:75404223A>G	uc004aiz.1	+	15	1754	c.1214A>G	c.(1213-1215)GAA>GGA	p.E405G	TMC1_uc010moz.1_Missense_Mutation_p.E363G|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.E259G|TMC1_uc010mpa.1_Missense_Mutation_p.E259G	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	405	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						GGGTGGTGGGAAAAAAATGAA	0.428													G	75404223	A	G	75404223	3	3	185	1	0	0	0	0	1	0	0	0	15981	246	9	3	1256	3	TMC1	9	75404223	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08		75404223	65809208	95	97432											
ROR2	4920	broad.mit.edu	37	chr9	94488878	94488878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggctgggcgaggccatcAgctgtcgccgctgcggtgtg	17	12	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr9:94488878A>G	uc004arj.1	-	8	1530	c.1331T>C	c.(1330-1332)CTG>CCG	p.L444P	ROR2_uc004ari.1_Missense_Mutation_p.L304P|ROR2_uc004ark.2_Nonstop_Mutation_p.*433R	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	444	Cytoplasmic (Potential).				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CGAGGCCATCAGCTGTCGCCG	0.537													G	94488878	A	G	94488878	3	3	185	1	0	0	0	0	1	0	0	0	13527	188	7	3	1508	3	ROR2	9	94488878	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	19084655	94488878	46724553	96	97433											
OR13C8	138802	broad.mit.edu	37	chr9	107332054	107332054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgattagtatgacagggtcGaatctgattgttctggttat	12	4	2	3	rs146773946		TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr9:107332054G>A	uc011lvo.1	+	1	606	c.606G>A	c.(604-606)TCG>TCA	p.S202S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGACAGGGTCGAATCTGATTG	0.348													A	107332054	G	A	107332054	2	1	185	1	0	0	0	0	0	0	0	1	10938	1045	37	1		1	OR13C8	9	107332054	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	12843176	107332054	33881377	97	97434											
C9orf84	158401	broad.mit.edu	37	chr9	114462308	114462308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctaggtgatgaagtgTcttttctgtaagcagatacc	11	7	2	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr9:114462308T>C	uc004bfr.2	-	22	3052	c.2917A>G	c.(2917-2919)ACA>GCA	p.T973A	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.T934A|C9orf84_uc010mug.2_Missense_Mutation_p.T884A	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	973										ovary(2)	2						TGATGAAGTGTCTTTTCTGTA	0.294													C	114462308	T	C	114462308	3	2	185	1	0	0	0	0	1	0	0	0	2500	1667	58	3	1437	3	C9orf84	9	114462308	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	7130254	114462308	26751123	98	97435											
PAPPA	5069	broad.mit.edu	37	chr9	119065080	119065080	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgatggtgatggggtatgtGaggagtttgaacaaaaaacc	14	3	0	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr9:119065080G>C	uc004bjn.2	+	10	3379	c.2998G>C	c.(2998-3000)GAG>CAG	p.E1000Q	PAPPA_uc011lxp.1_Missense_Mutation_p.E695Q|PAPPA_uc011lxq.1_Missense_Mutation_p.E375Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1000					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TGGGGTATGTGAGGAGTTTGA	0.438													C	119065080	G	C	119065080	3	2	185	1	0	0	0	0	1	0	0	0	11432	1291	45	5	3036	5	PAPPA	9	119065080	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	4602772	119065080	22148351	99	97436											
CERCAM	51148	broad.mit.edu	37	chr9	131185501	131185501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggagctgaagcaggaaGccctcacctttgccaggaac	12	11	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr9:131185501G>A	uc004buz.3	+	3	783	c.385G>A	c.(385-387)GCC>ACC	p.A129T	CERCAM_uc004buy.1_Missense_Mutation_p.A51T|CERCAM_uc010mxz.2_Missense_Mutation_p.A51T|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	129					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						GAAGCAGGAAGCCCTCACCTT	0.537													A	131185501	G	A	131185501	3	1	185	1	0	0	0	0	1	0	0	0	3266	971	34	2	395	2	CERCAM	9	131185501	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	12120421	131185501	10027930	100	97437											
POMT1	10585	broad.mit.edu	37	chr9	134386796	134386796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtcactctgaggaacGtctttgggaaacctgtgccc	11	13	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr9:134386796G>A	uc004cav.2	+	10	1196	c.994G>A	c.(994-996)GTC>ATC	p.V332I	POMT1_uc004cax.2_Missense_Mutation_p.V310I|POMT1_uc011mcj.1_Missense_Mutation_p.V88I|POMT1_uc004cau.2_Missense_Mutation_p.V310I|POMT1_uc004caw.2_Missense_Mutation_p.V256I|POMT1_uc011mck.1_Missense_Mutation_p.V193I|POMT1_uc011mcl.1_Missense_Mutation_p.V158I|POMT1_uc011mcm.1_Missense_Mutation_p.V280I|POMT1_uc011mcn.1_Missense_Mutation_p.V35I	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	332	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TCTGAGGAACGTCTTTGGGAA	0.502													A	134386796	G	A	134386796	3	1	185	1	0	0	0	0	1	0	0	0	12245	1145	40	1	1028	1	POMT1	9	134386796	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	3201295	134386796	6826635	101	97438											
GDI2	2665	broad.mit.edu	37	chr10	5827827	5827827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacttactcatcagttctgTaaagtgcaagagcatgacca	7	9	3	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr10:5827827T>C	uc001iil.3	-	5	866	c.575A>G	c.(574-576)TAC>TGC	p.Y192C	GDI2_uc001iim.3_Missense_Mutation_p.Y147C|GDI2_uc009xid.2_Missense_Mutation_p.Y196C	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	192					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						ATCAGTTCTGTAAAGTGCAAG	0.333													C	5827827	T	C	5827827	3	2	185	1	0	0	0	0	1	0	0	0	6321	1638	57	3	790	3	GDI2	10	5827827	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08		5827827	129706920	102	97439											
STAM	8027	broad.mit.edu	37	chr10	17730117	17730117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcttagtctaatatcagCaatgattaagaaccttaagg	7	7	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr10:17730117C>T	uc001ipj.1	+	5	605	c.389C>T	c.(388-390)GCA>GTA	p.A130V	STAM_uc010qcf.1_Missense_Mutation_p.A19V	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	130	VHS.				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	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						CTAATATCAGCAATGATTAAG	0.368													T	17730117	C	T	17730117	3	4	185	1	0	0	0	0	1	0	0	0	15247	710	25	2	407	2	STAM	10	17730117	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	11902290	17730117	117804630	103	97440											
CHAT	1103	broad.mit.edu	37	chr10	50857654	50857654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccggaaattcaaggccacTtagcctcctcggcagaaaaa	8	14	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr10:50857654T>C	uc001jhz.2	+	10	1636	c.1483T>C	c.(1483-1485)TTA>CTA	p.L495L	CHAT_uc001jhv.1_Silent_p.L377L|CHAT_uc001jhx.1_Silent_p.L377L|CHAT_uc001jhy.1_Silent_p.L377L|CHAT_uc001jia.2_Silent_p.L377L|CHAT_uc010qgs.1_Silent_p.L377L	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	495					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCAAGGCCACTTAGCCTCCTC	0.612													C	50857654	T	C	50857654	2	2	185	1	0	0	0	0	0	0	0	1	3313	1606	56	3		3	CHAT	10	50857654	Silent	SNP	T	TCGA-CG-5717-01A-11D-1600-08	33127537	50857654	84677093	104	97441											
UNC5B	219699	broad.mit.edu	37	chr10	73050856	73050856	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccccgtcaactttaagacGgcaaggcccagtaagaaccc	8	15	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr10:73050856G>C	uc001jro.2	+	9	1729	c.1284G>C	c.(1282-1284)ACG>ACC	p.T428T	UNC5B_uc001jrp.2_Silent_p.T417T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	428	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						ACTTTAAGACGGCAAGGCCCA	0.597													C	73050856	G	C	73050856	2	2	185	1	0	0	0	0	0	0	0	1	16989	1103	39	5		5	UNC5B	10	73050856	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	22193202	73050856	62483891	105	97442											
LDB3	11155	broad.mit.edu	37	chr10	88478537	88478537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctgcttcgtctgtgcGgcctgcaagaagccttttgg	11	13	1	1	rs150710377	byFrequency	TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr10:88478537G>A	uc001kdv.2	+	11	1934	c.1911G>A	c.(1909-1911)GCG>GCA	p.A637A	LDB3_uc010qmm.1_Silent_p.A642A|LDB3_uc001kdu.2_Silent_p.A527A|LDB3_uc009xsz.2_Silent_p.A266A|LDB3_uc009xta.1_Silent_p.A16A	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	637	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						TCGTCTGTGCGGCCTGCAAGA	0.572													A	88478537	G	A	88478537	2	1	185	1	0	0	0	0	0	0	0	1	8697	1103	39	1		1	LDB3	10	88478537	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	15427681	88478537	47056210	106	97443											
BTAF1	9044	broad.mit.edu	37	chr10	93784681	93784681	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtcacttatttgagattaGatggcagcatacctcctggt	9	9	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr10:93784681G>A	uc001khr.2	+	35	5130	c.5032G>A	c.(5032-5034)GAT>AAT	p.D1678N		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1678	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TTTGAGATTAGATGGCAGCAT	0.393													A	93784681	G	A	93784681	3	1	185	1	0	0	0	0	1	0	0	0	1536	942	33	4	5170	4	BTAF1	10	93784681	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	5306144	93784681	41750066	107	97444											
SORCS3	22986	broad.mit.edu	37	chr10	107005353	107005353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattccttgcagaaggaacCgacaccatcacagtccaggt	8	13	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr10:107005353C>T	uc001kyi.1	+	21	3149	c.2922C>T	c.(2920-2922)ACC>ACT	p.T974T	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	974	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		CAGAAGGAACCGACACCATCA	0.463													T	107005353	C	T	107005353	2	4	185	1	0	0	0	0	0	0	0	1	14932	639	23	1		1	SORCS3	10	107005353	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	13220672	107005353	28529394	108	97445											
EHF	26298	broad.mit.edu	37	chr11	34668128	34668128	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctttccaagagttcgacatCaacggcgagcacctctgcag	9	14	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr11:34668128C>G	uc001mvr.1	+	3	351	c.240C>G	c.(238-240)ATC>ATG	p.I80M	EHF_uc009yke.1_Missense_Mutation_p.I80M|EHF_uc009ykf.1_Missense_Mutation_p.I83M	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	80	PNT.				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				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AGTTCGACATCAACGGCGAGC	0.582													G	34668128	C	G	34668128	3	3	185	1	0	0	0	0	1	0	0	0	4981	816	29	5	246	5	EHF	11	34668128	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08		34668128	100338388	109	97446											
ACCS	84680	broad.mit.edu	37	chr11	44105268	44105268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagggtccagcaggtgCttgcaggcaaatcccaagtg	14	10	0	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr11:44105268C>A	uc009yks.1	+	15	1576	c.1432C>A	c.(1432-1434)CTT>ATT	p.L478I	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.L478I	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	478							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						CCAGCAGGTGCTTGCAGGCAA	0.617													A	44105268	C	A	44105268	3	1	185	1	0	0	0	0	1	0	0	0	133	797	28	5	1486	5	ACCS	11	44105268	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	9437140	44105268	90901248	110	97447											
OR4S2	219431	broad.mit.edu	37	chr11	55419242	55419242	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctctgatttatacactgaGaaatgcagaagtaaagaatg	8	6	1	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr11:55419242G>T	uc001nhs.1	+	1	863	c.863G>T	c.(862-864)AGA>ATA	p.R288I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	288	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				TATACACTGAGAAATGCAGAA	0.378													T	55419242	G	T	55419242	3	4	185	1	0	0	0	0	1	0	0	0	11083	942	33	5	865	5	OR4S2	11	55419242	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	11313974	55419242	79587274	111	97448											
SCN3B	55800	broad.mit.edu	37	chr11	123508896	123508896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatctctggacttacgcGttttcttgggctgcctcttc	10	12	3	0	rs34964168	byFrequency	TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr11:123508896G>A	uc001pza.1	-	5	989	c.582C>T	c.(580-582)AAC>AAT	p.N194N	SCN3B_uc001pzb.1_Silent_p.N194N	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	194	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		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)		GGACTTACGCGTTTTCTTGGG	0.294													A	123508896	G	A	123508896	2	1	185	1	0	0	0	0	0	0	0	1	13919	1136	40	1		1	SCN3B	11	123508896	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	68089654	123508896	11497620	112	97449											
OPCML	4978	broad.mit.edu	37	chr11	132527132	132527132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcacacgagggtctaTggaccacttgtcattcccag	10	11	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr11:132527132T>C	uc001qgs.2	-	2	300	c.250A>G	c.(250-252)ATA>GTA	p.I84V	OPCML_uc001qgu.2_Missense_Mutation_p.I77V|OPCML_uc010sck.1_Missense_Mutation_p.I84V|OPCML_uc001qgt.2_Missense_Mutation_p.I84V|OPCML_uc010scl.1_Missense_Mutation_p.I43V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	84	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	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)		CGAGGGTCTATGGACCACTTG	0.537													C	132527132	T	C	132527132	3	2	185	1	0	0	0	0	1	0	0	0	10874	1464	51	3	811	3	OPCML	11	132527132	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	9018236	132527132	2479384	113	97450											
AKAP3	10566	broad.mit.edu	37	chr12	4737235	4737235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttcactaacagaagccGtaaagtcatcaggcctttcc	6	14	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:4737235G>A	uc001qnb.3	-	4	1062	c.833C>T	c.(832-834)ACG>ATG	p.T278M		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	278					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						AACAGAAGCCGTAAAGTCATC	0.458													A	4737235	G	A	4737235	3	1	185	1	0	0	0	0	1	0	0	0	452	1145	40	1	1736	1	AKAP3	12	4737235	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		4737235	129114660	114	97451											
SLCO1C1	53919	broad.mit.edu	37	chr12	20903616	20903616	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttttctcacagcaggaatCccagctccagtgtattttgg	9	10	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:20903616C>A	uc001rej.3	+	15	2161	c.1806C>A	c.(1804-1806)ATC>ATA	p.I602I	SLCO1C1_uc010sii.1_Silent_p.I602I|SLCO1C1_uc010sij.1_Silent_p.I553I|SLCO1C1_uc009zip.2_Silent_p.I436I|SLCO1C1_uc001rei.2_Silent_p.I602I|SLCO1C1_uc010sik.1_Silent_p.I484I	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	602	Helical; Name=11; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CAGCAGGAATCCCAGCTCCAG	0.294													A	20903616	C	A	20903616	2	1	185	1	0	0	0	0	0	0	0	1	14725	845	30	5		5	SLCO1C1	12	20903616	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	16166381	20903616	112948279	115	97452											
IFLTD1	160492	broad.mit.edu	37	chr12	25656696	25656696	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggttgagttgactgcttAttgcttttgtgactcagatg	11	5	1	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:25656696A>G	uc001rgs.2	-	8	1315	c.1165T>C	c.(1165-1167)TAA>CAA	p.*389Q	IFLTD1_uc001rgt.1_Nonstop_Mutation_p.*292Q|IFLTD1_uc010sji.1_Nonstop_Mutation_p.*410Q|IFLTD1_uc010sjj.1_Nonstop_Mutation_p.*326Q|IFLTD1_uc009zjc.2_Nonstop_Mutation_p.*370Q	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	389						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTGACTGCTTATTGCTTTTGT	0.338													G	25656696	A	G	25656696	4	3	185	1	0	0	0	0	0	0	0	0	7530	462	16	3	5	3	IFLTD1	12	25656696	Nonstop_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	4753080	25656696	108195199	116	97453											
SFRS2IP	9169	broad.mit.edu	37	chr12	46321761	46321761	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcattaaccactgactctaCattctcagataagtcactta	3	11	4	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:46321761C>G	uc001rox.2	-	11	2010	c.1723G>C	c.(1723-1725)GTA>CTA	p.V575L	SFRS2IP_uc001row.2_Missense_Mutation_p.V260L|SFRS2IP_uc001roy.1_Missense_Mutation_p.V649L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	575					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		ACTGACTCTACATTCTCAGAT	0.343													G	46321761	C	G	46321761	3	3	185	1	0	0	0	0	1	0	0	0	14177	478	17	5	2688	5	SFRS2IP	12	46321761	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	20665065	46321761	87530134	117	97454											
ENDOU	8909	broad.mit.edu	37	chr12	48110804	48110804	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctcagagatgctctgaatCtcctcttttgttatggcatc	7	10	4	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:48110804C>G	uc001rpu.1	-	5	574	c.420G>C	c.(418-420)GAG>GAC	p.E140D	ENDOU_uc010sll.1_5'UTR|ENDOU_uc001rpt.1_Missense_Mutation_p.E99D|ENDOU_uc010slm.1_Missense_Mutation_p.E77D|uc001rpv.2_5'Flank	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	140					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						TGCTCTGAATCTCCTCTTTTG	0.527											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	48110804	C	G	48110804	3	3	185	1	0	0	0	0	1	0	0	0	5116	912	32	5	836	5	ENDOU	12	48110804	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	1789043	48110804	85741091	118	97455											
SCN8A	6334	broad.mit.edu	37	chr12	52156331	52156331	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgttcctgaagctcatAgccatggatccctactatta	7	10	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:52156331A>T	uc001ryw.2	+	15	2593	c.2415A>T	c.(2413-2415)ATA>ATT	p.I805I	SCN8A_uc010snl.1_Silent_p.I670I|SCN8A_uc001ryy.2_Silent_p.I670I	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	805	Helical; Name=S2 of repeat II; (Potential).|II.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGAAGCTCATAGCCATGGATC	0.408													T	52156331	A	T	52156331	2	4	185	1	0	0	0	0	0	0	0	1	13924	410	15	5		5	SCN8A	12	52156331	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	4045527	52156331	81695564	119	97456											
ESPL1	9700	broad.mit.edu	37	chr12	53666524	53666524	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttcttacaccagtaatttGgcctacagcttctatagtca	6	11	3	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:53666524G>T	uc001sck.2	+	6	1480	c.1389G>T	c.(1387-1389)TTG>TTT	p.L463F	ESPL1_uc001scj.2_Missense_Mutation_p.L138F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	463					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			lung(1)|kidney(1)|skin(1)	3						CCAGTAATTTGGCCTACAGCT	0.547													T	53666524	G	T	53666524	3	4	185	1	0	0	0	0	1	0	0	0	5253	1339	47	5	1407	5	ESPL1	12	53666524	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	1510193	53666524	80185371	120	97457											
DCD	117159	broad.mit.edu	37	chr12	55039490	55039490	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgatgcttcatggcaAgctgcaagggtaagggagtg	16	7	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:55039490A>G	uc001sgj.2	-	3	161	c.99T>C	c.(97-99)CCT>CCC	p.P33P	DCD_uc009znt.2_Silent_p.P33P|DCD_uc009znu.2_RNA	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein	33					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)				CTTCATGGCAAGCTGCAAGGG	0.527													G	55039490	A	G	55039490	2	3	185	1	0	0	0	0	0	0	0	1	4283	86	3	3		3	DCD	12	55039490	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	1372966	55039490	78812405	121	97458											
OR6C1	390321	broad.mit.edu	37	chr12	55715240	55715240	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcccccatgatgaacccctTtatttacagcctaagaaatc	5	13	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:55715240T>A	uc010spi.1	+	1	857	c.857T>A	c.(856-858)TTT>TAT	p.F286Y		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						ATGAACCCCTTTATTTACAGC	0.403													A	55715240	T	A	55715240	3	1	185	1	0	0	0	0	1	0	0	0	11190	1841	64	5	859	5	OR6C1	12	55715240	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	675750	55715240	78136655	122	97459											
KCNMB4	27345	broad.mit.edu	37	chr12	70794037	70794037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagaagaatttggaaAgtgtcatgaattggcaacag	10	4	2	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:70794037A>G	uc001svx.2	+	2	838	c.385A>G	c.(385-387)AGT>GGT	p.S129G		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	calcium-activated potassium channel beta 4	129	Extracellular (Potential).				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				0	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAATTTGGAAAGTGTCATGAA	0.343													G	70794037	A	G	70794037	3	3	185	1	0	0	0	0	1	0	0	0	8077	72	3	3	391	3	KCNMB4	12	70794037	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	15078797	70794037	63057858	123	97460											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75785032	75785032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaacgccagatttttgCcagacgaggaggacgtagac	13	8	0	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:75785032C>T	uc001sxr.1	+	1	144	c.136C>T	c.(136-138)CCA>TCA	p.P46S	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.P46S|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	46						integral to membrane				ovary(1)	1						CAGATTTTTGCCAGACGAGGA	0.562											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	75785032	C	T	75785032	3	4	185	1	0	0	0	0	1	0	0	0	6443	739	26	2	138	2	GLIPR1L2	12	75785032	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	4990995	75785032	58066863	124	97461											
LRRIQ1	84125	broad.mit.edu	37	chr12	85438514	85438514	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtagttatggagcagTttctaataatcatatgcatt	9	5	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:85438514T>A	uc001tac.2	+	4	374	c.263T>A	c.(262-264)GTT>GAT	p.V88D	LRRIQ1_uc001tab.1_Missense_Mutation_p.V88D|LRRIQ1_uc001taa.1_Missense_Mutation_p.V88D|LRRIQ1_uc001tad.2_5'UTR	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	88										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TATGGAGCAGTTTCTAATAAT	0.264													A	85438514	T	A	85438514	3	1	185	1	0	0	0	0	1	0	0	0	9029	1725	60	5	273	5	LRRIQ1	12	85438514	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	9653482	85438514	48413381	125	97462											
C12orf50	160419	broad.mit.edu	37	chr12	88388519	88388519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggaactgtaagactatcTcctagaaataagaagaaaaa	8	6	1	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:88388519T>C	uc001tam.1	-	7	651	c.483A>G	c.(481-483)GGA>GGG	p.G161G	C12orf50_uc001tan.2_Silent_p.G215G	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	161										skin(2)|ovary(1)	3						TAAGACTATCTCCTAGAAATA	0.318													C	88388519	T	C	88388519	2	2	185	1	0	0	0	0	0	0	0	1	1695	1565	54	3		3	C12orf50	12	88388519	Silent	SNP	T	TCGA-CG-5717-01A-11D-1600-08	2950005	88388519	45463376	126	97463											
PLXNC1	10154	broad.mit.edu	37	chr12	94673350	94673350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaccattggccaagccAaagaaaagattttccaagca	8	10	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:94673350A>G	uc001tdc.2	+	22	3949	c.3700A>G	c.(3700-3702)AAA>GAA	p.K1234E	PLXNC1_uc010sut.1_Missense_Mutation_p.K281E|PLXNC1_uc009zsv.2_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1234	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TGGCCAAGCCAAAGAAAAGAT	0.428													G	94673350	A	G	94673350	3	3	185	1	0	0	0	0	1	0	0	0	12126	131	5	3	3786	3	PLXNC1	12	94673350	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	6284831	94673350	39178545	127	97464											
ANKS1B	56899	broad.mit.edu	37	chr12	99640323	99640323	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattccgagatccactcctGgttgatcttgtgccaacaat	7	13	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:99640323G>C	uc001tge.1	-	13	2493	c.2076C>G	c.(2074-2076)ACC>ACG	p.T692T	ANKS1B_uc001tgf.1_Silent_p.T272T|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Silent_p.T658T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	692						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		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)		ATCCACTCCTGGTTGATCTTG	0.443													C	99640323	G	C	99640323	2	2	185	1	0	0	0	0	0	0	0	1	689	1335	47	5		5	ANKS1B	12	99640323	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	4966973	99640323	34211572	128	97465											
C12orf48	55010	broad.mit.edu	37	chr12	102569440	102569440	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccactgacatcagtcctgCtcgggtaatgagctttttat	8	11	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:102569440C>G	uc001tjf.2	+	7	1113	c.1001C>G	c.(1000-1002)GCT>GGT	p.A334G	C12orf48_uc001tjg.2_Missense_Mutation_p.A253G|C12orf48_uc010swa.1_Missense_Mutation_p.A411G|C12orf48_uc001tjh.2_Missense_Mutation_p.A253G|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.A49G|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	334					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						ATCAGTCCTGCTCGGGTAATG	0.328													G	102569440	C	G	102569440	3	3	185	1	0	0	0	0	1	0	0	0	1692	797	28	5	776	5	C12orf48	12	102569440	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	2929117	102569440	31282455	129	97466											
UNG	7374	broad.mit.edu	37	chr12	109547651	109547651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcggcaccatgtactAcagacggctcatccctcccc	8	17	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:109547651A>G	uc001tnz.1	+	7	889	c.819A>G	c.(817-819)CTA>CTG	p.L273L	UNG_uc001toa.1_Silent_p.L264L	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	273					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			lung(1)|central_nervous_system(1)	2						ACCATGTACTACAGACGGCTC	0.363								BER_DNA_glycosylases	Immune_Deficiency_with_Hyper-IgM				G	109547651	A	G	109547651	2	3	185	1	0	0	0	0	0	0	0	1	16996	378	14	3		3	UNG	12	109547651	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	6978211	109547651	24304244	130	97467											
SLC15A4	121260	broad.mit.edu	37	chr12	129294519	129294519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccagtaaggtatcaaaGccaagaaaacagggacaatc	9	9	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr12:129294519G>A	uc001uhu.2	-	3	1033	c.980C>T	c.(979-981)GCT>GTT	p.A327V	SLC15A4_uc001uhv.2_Intron	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	327	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGGTATCAAAGCCAAGAAAAC	0.403													A	129294519	G	A	129294519	3	1	185	1	0	0	0	0	1	0	0	0	14401	971	34	2	777	2	SLC15A4	12	129294519	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	19746868	129294519	4557376	131	97468											
MAB21L1	4081	broad.mit.edu	37	chr13	36049858	36049870	+	Frame_Shift_Del	DEL	CCGCTTGAGCCAC	CCGCTTGAGCCAC	-													ccggtagctacatttgtctaCcgcttgagccaccagcgtct					rs148963167		TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr13:36049857_36049869ACCGCTTGAGCCAC>A	uc001uvc.3	-	1	989_1001	c.407_419GTGGCTCAAGCGGT>T	c.(406-420)gtggctcaagcggtafs	p.V136fs	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	136					anatomical structure morphogenesis	nucleus		p.V136L(1)		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)		ACATTTGTCTACCGCTTGAGCCACCAGCGTCTG	0.577													-	36049870	CCGCTTGAGCCAC	-	36049858	7	5	185	1	0	1	0	1	0	0	0	0	9141	507	18	0	665	0	MAB21L1	13	36049858	Frame_Shift_Del	DEL	CCGCTTGAGCCAC	TCGA-CG-5717-01A-11D-1600-08		36049858	79120020	132	97469											
DNAJC15	29103	broad.mit.edu	37	chr13	43643111	43643111	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctctagaacaagttatcaCagaaactgcaaagaagattt	6	8	2	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr13:43643111C>G	uc001uyy.2	+	3	607	c.206C>G	c.(205-207)ACA>AGA	p.T69R		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	69						integral to membrane	heat shock protein binding				0		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)		CAAGTTATCACAGAAACTGCA	0.308													G	43643111	C	G	43643111	3	3	185	1	0	0	0	0	1	0	0	0	4634	478	17	5	216	5	DNAJC15	13	43643111	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	7593253	43643111	71526767	133	97470											
ATP11A	23250	broad.mit.edu	37	chr13	113510249	113510249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagatatgcaggactaCggtttaattatcgacggagc	11	8	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr13:113510249C>T	uc001vsi.3	+	20	2356	c.2268C>T	c.(2266-2268)TAC>TAT	p.Y756Y	ATP11A_uc001vsj.3_Silent_p.Y756Y|ATP11A_uc001vsm.1_Silent_p.Y632Y|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	756	Cytoplasmic (Potential).				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			large_intestine(2)|ovary(2)	4	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)				TGCAGGACTACGGTTTAATTA	0.438													T	113510249	C	T	113510249	2	4	185	1	0	0	0	0	0	0	0	1	1119	547	19	1		1	ATP11A	13	113510249	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	69867138	113510249	1659629	134	97471											
KLHL28	54813	broad.mit.edu	37	chr14	45414529	45414529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttgatccaagactctaaTgcataaaaaacagtctcttc	4	10	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:45414529T>C	uc001wvq.2	-	2	849	c.603A>G	c.(601-603)GCA>GCG	p.A201A	KLHL28_uc001wvr.2_Silent_p.A201A|KLHL28_uc001wvt.3_Silent_p.A201A	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	201										ovary(1)	1						AAGACTCTAATGCATAAAAAA	0.373													C	45414529	T	C	45414529	2	2	185	1	0	0	0	0	0	0	0	1	8382	1451	51	3		3	KLHL28	14	45414529	Silent	SNP	T	TCGA-CG-5717-01A-11D-1600-08		45414529	61935011	135	97472											
CGRRF1	10668	broad.mit.edu	37	chr14	55004881	55004881	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttggaaaaggtgggactctCtgaaagtgaagttgagccat	14	5	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:55004881C>G	uc001xay.2	+	6	870	c.779C>G	c.(778-780)TCT>TGT	p.S260C	CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	260					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						GTGGGACTCTCTGAAAGTGAA	0.428													G	55004881	C	G	55004881	3	3	185	1	0	0	0	0	1	0	0	0	3306	913	32	5	801	5	CGRRF1	14	55004881	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	9590352	55004881	52344659	136	97473											
WDHD1	11169	broad.mit.edu	37	chr14	55451447	55451447	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaatttatcttgccttcagCtgaaaacccaatccatgcaa	4	12	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:55451447C>G	uc001xbm.1	-	15	1978	c.1900G>C	c.(1900-1902)GCT>CCT	p.A634P	WDHD1_uc010aom.1_Missense_Mutation_p.A151P|WDHD1_uc001xbn.1_Missense_Mutation_p.A511P	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	634						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						TTGCCTTCAGCTGAAAACCCA	0.308													G	55451447	C	G	55451447	3	3	185	1	0	0	0	0	1	0	0	0	17268	797	28	5	1537	5	WDHD1	14	55451447	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	446566	55451447	51898093	137	97474											
FBXO34	55030	broad.mit.edu	37	chr14	55817527	55817527	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atctatgaaaataaaaagttCctgggatattgatgggagag	11	3	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:55817527C>G	uc001xbu.2	+	2	664	c.419C>G	c.(418-420)TCC>TGC	p.S140C	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.S140C	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	140										ovary(2)|lung(2)|skin(1)	5						ATAAAAAGTTCCTGGGATATT	0.413													G	55817527	C	G	55817527	3	3	185	1	0	0	0	0	1	0	0	0	5744	855	30	5	421	5	FBXO34	14	55817527	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	366080	55817527	51532013	138	97475											
SFRS5	6430	broad.mit.edu	37	chr14	70235352	70235352	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccaagggatgcagatgatgCtgtgtatgagcttgatggaa	14	5	0	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:70235352C>G	uc001xll.2	+	4	1609	c.158C>G	c.(157-159)GCT>GGT	p.A53G	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.A53G|SFRS5_uc001xlo.2_Missense_Mutation_p.A53G|SFRS5_uc001xlp.2_Missense_Mutation_p.A53G|SFRS5_uc001xlq.2_Missense_Mutation_p.A50G	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	53	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		GCAGATGATGCTGTGTATGAG	0.413													G	70235352	C	G	70235352	3	3	185	1	0	0	0	0	1	0	0	0	14180	797	28	5	164	5	SFRS5	14	70235352	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	14417825	70235352	37114188	139	97476											
ADAM20	8748	broad.mit.edu	37	chr14	70990979	70990979	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcataggtggaaactgtgTatcatcactgtctatcttat	7	8	5	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:70990979T>A	uc001xme.2	-	2	891	c.646A>T	c.(646-648)ACA>TCA	p.T216S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	166					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			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)		GGAAACTGTGTATCATCACTG	0.358													A	70990979	T	A	70990979	3	1	185	1	0	0	0	0	1	0	0	0	242	1638	57	5	1688	5	ADAM20	14	70990979	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	755627	70990979	36358561	140	97477											
ESRRB	2103	broad.mit.edu	37	chr14	76928915	76928915	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagtacagctgcccggccaCcaacgagtgcgagatcacca	11	14	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:76928915C>G	uc001xsq.1	+	3	492	c.425C>G	c.(424-426)ACC>AGC	p.T142S	ESRRB_uc001xsr.2_Missense_Mutation_p.T142S|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	142						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCCGGCCACCAACGAGTGC	0.632													G	76928915	C	G	76928915	3	3	185	1	0	0	0	0	1	0	0	0	5261	507	18	5	431	5	ESRRB	14	76928915	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	5937936	76928915	30420625	141	97478											
ISM2	145501	broad.mit.edu	37	chr14	77948847	77948847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccttttcctcccccttcTcccctggggccctgtctttt	5	20	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr14:77948847T>C	uc001xtz.2	-	4	865	c.791A>G	c.(790-792)GAG>GGG	p.E264G	ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.E176G|ISM2_uc010tvl.1_Missense_Mutation_p.E183G	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	264						extracellular region				skin(1)	1						ctcccccttctccccTGGGGC	0.313													C	77948847	T	C	77948847	3	2	185	1	0	0	0	0	1	0	0	0	7861	1551	54	3	940	3	ISM2	14	77948847	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	1019932	77948847	29400693	142	97479											
GABRA5	2558	broad.mit.edu	37	chr15	27193231	27193231	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctctgaagagaagacttctGaaagcaaaaagacttacaac	7	9	2	5			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr15:27193231G>A	uc001zbd.1	+	12	1579	c.1240G>A	c.(1240-1242)GAA>AAA	p.E414K	GABRA5_uc001zbe.1_RNA	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	414	Cytoplasmic (Potential).				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			ovary(1)	1		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)	GAAGACTTCTGAAAGCAAAAA	0.448													A	27193231	G	A	27193231	3	1	185	1	0	0	0	0	1	0	0	0	6164	1291	45	4	1274	4	GABRA5	15	27193231	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		27193231	75338161	143	97480											
HERC2	8924	broad.mit.edu	37	chr15	28421839	28421839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccagccactcaccttcatCggtcagagccagggtctgcg	11	15	4	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr15:28421839C>T	uc001zbj.2	-	62	9614	c.9508G>A	c.(9508-9510)GAT>AAT	p.D3170N		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3170					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		TCACCTTCATCGGTCAGAGCC	0.468													T	28421839	C	T	28421839	3	4	185	1	0	0	0	0	1	0	0	0	7058	884	31	1	5124	1	HERC2	15	28421839	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	1228608	28421839	74109553	144	97481											
OTUD7A	161725	broad.mit.edu	37	chr15	31795994	31795994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaactcttccaggctctcGtacacggggtcctcagagtt	11	12	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr15:31795994G>A	uc001zfq.2	-	7	993	c.900C>T	c.(898-900)TAC>TAT	p.Y300Y	OTUD7A_uc001zfr.2_Silent_p.Y307Y	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	300	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		CCAGGCTCTCGTACACGGGGT	0.493													A	31795994	G	A	31795994	2	1	185	1	0	0	0	0	0	0	0	1	11318	1140	40	1		1	OTUD7A	15	31795994	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	3374155	31795994	70735398	145	97482											
ACTC1	70	broad.mit.edu	37	chr15	35083462	35083462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacttcatgatgctattGtaagttgtttcatggatgcc	8	8	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr15:35083462G>A	uc001ziu.1	-	6	1086	c.843C>T	c.(841-843)TAC>TAT	p.Y281Y	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	281					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGATGCTATTGTAAGTTGTTT	0.338													A	35083462	G	A	35083462	2	1	185	1	0	0	0	0	0	0	0	1	195	1372	48	4		4	ACTC1	15	35083462	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	3287468	35083462	67447930	146	97483											
PLCB2	5330	broad.mit.edu	37	chr15	40595516	40595516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttggcaaacttcccaaaGcgagtatcccggatgctggt	10	11	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr15:40595516G>A	uc001zld.2	-	3	505	c.204C>T	c.(202-204)CGC>CGT	p.R68R	PLCB2_uc010bbo.2_Silent_p.R68R|PLCB2_uc010ucm.1_Silent_p.R68R|PLCB2_uc001zle.3_Silent_p.R68R	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	68					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			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		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)		ACTTCCCAAAGCGAGTATCCC	0.577													A	40595516	G	A	40595516	2	1	185	1	0	0	0	0	0	0	0	1	12028	958	34	2		2	PLCB2	15	40595516	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	5512054	40595516	61935876	147	97484											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164527	85164527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgaatgtaaagaatgCggcgaaagctttagttacaa	9	8	0	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr15:85164527C>T	uc002bkr.2	+	3	1327	c.1101C>T	c.(1099-1101)TGC>TGT	p.C367C	ZSCAN2_uc010bmz.1_Silent_p.C365C|ZSCAN2_uc010bna.2_Silent_p.C217C|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	367	C2H2-type 6.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTAAAGAATGCGGCGAAAGCT	0.502													T	85164527	C	T	85164527	2	4	185	1	0	0	0	0	0	0	0	1	18228	776	27	1		1	ZSCAN2	15	85164527	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	44569011	85164527	17366865	148	97485											
KIAA0430	9665	broad.mit.edu	37	chr16	15719522	15719528	+	Frame_Shift_Del	DEL	GGAGAAT	GGAGAAT	-													actatcttggtttatgaagcGgagaattgcactgcagcctg							TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr16:15719521_15719527CGGAGAAT>C	uc002ddr.3	-	7	1862_1868	c.1655_1661ATTCTCCG>G	c.(1654-1662)attctccgcfs	p.I552fs	KIAA0430_uc002ddq.3_Intron|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.I549fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.I551fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	551						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTTTATGAAGCGGAGAATTGCACTGCA	0.459													-	15719528	GGAGAAT	-	15719522	7	5	185	1	0	1	0	1	0	0	0	0	8177	1116	39	0	3651	0	KIAA0430	16	15719522	Frame_Shift_Del	DEL	GGAGAAT	TCGA-CG-5717-01A-11D-1600-08		15719522	74635231	149	97486											
GPR139	124274	broad.mit.edu	37	chr16	20043247	20043247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgccatggtgcggaacCgcttgctgatgaagcagtag	15	10	0	2	rs144836581		TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr16:20043247C>T	uc002dgu.1	-	2	1034	c.872G>A	c.(871-873)CGG>CAG	p.R291Q	GPR139_uc010vaw.1_Missense_Mutation_p.R198Q	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						GGTGCGGAACCGCTTGCTGAT	0.502													T	20043247	C	T	20043247	3	4	185	1	0	0	0	0	1	0	0	0	6648	652	23	1	193	1	GPR139	16	20043247	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	4323725	20043247	70311506	150	97487											
SCNN1B	6338	broad.mit.edu	37	chr16	23388519	23388519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctacagatgagcgtggCgcagagagagacctgcattg	14	8	1	5			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr16:23388519C>T	uc002dln.2	+	9	1480	c.1304C>T	c.(1303-1305)GCG>GTG	p.A435V		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	435	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATGAGCGTGGCGCAGAGAGAG	0.607													T	23388519	C	T	23388519	3	4	185	1	0	0	0	0	1	0	0	0	13928	768	27	1	1334	1	SCNN1B	16	23388519	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	3345272	23388519	66966234	151	97488											
CORO1A	11151	broad.mit.edu	37	chr16	30199292	30199292	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaatccggtactttgagatCacttccgaggcccctttcct	7	14	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr16:30199292C>T	uc002dww.2	+	8	1013	c.891C>T	c.(889-891)ATC>ATT	p.I297I	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Silent_p.I297I|CORO1A_uc010bzr.2_Silent_p.I297I|CORO1A_uc002dwx.2_Silent_p.I191I|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	297					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						ACTTTGAGATCACTTCCGAGG	0.597													T	30199292	C	T	30199292	2	4	185	1	0	0	0	0	0	0	0	1	3753	816	29	4		4	CORO1A	16	30199292	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	6810773	30199292	60155461	152	97489											
SEPHS2	22928	broad.mit.edu	37	chr16	30456419	30456419	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accaccgtttgcccaccggtCactgccgtccctccttcctc	6	21	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr16:30456419C>G	uc010ves.1	-	2	806	c.630G>C	c.(628-630)GTG>GTC	p.V210V	SEPHS2_uc002dyh.1_Silent_p.V153V|SEPHS2_uc010vet.1_Silent_p.V92V	NM_012248	NP_036380	Q99611	SPS2_HUMAN	selenophosphate synthetase 2	210					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(2)	2						GCCCACCGGTCACTGCCGTCC	0.552													G	30456419	C	G	30456419	2	3	185	1	0	0	0	0	0	0	0	1	14055	813	29	5		5	SEPHS2	16	30456419	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	257127	30456419	59898334	153	97490											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53698873	53698873	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaatctgcactttcagCtgttgctcctttaacttcca	6	12	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr16:53698873C>G	uc002ehp.2	-	10	1216	c.1152G>C	c.(1150-1152)CAG>CAC	p.Q384H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.Q384H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.Q384H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.Q384H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.Q384H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	384	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				GCACTTTCAGCTGTTGCTCCT	0.438													G	53698873	C	G	53698873	3	3	185	1	0	0	0	0	1	0	0	0	13550	796	28	5	2867	5	RPGRIP1L	16	53698873	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	23242454	53698873	36655880	154	97491											
GLG1	2734	broad.mit.edu	37	chr16	74527016	74527016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcaatcagcttttggCgggttgtaagtgcttctcga	13	9	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr16:74527016C>T	uc002fcy.3	-	7	1123	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	GLG1_uc002fcx.2_Missense_Mutation_p.R358H|GLG1_uc002fcw.3_Missense_Mutation_p.R347H|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	358	Cys-rich GLG1 5.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						CAGCTTTTGGCGGGTTGTAAG	0.443													T	74527016	C	T	74527016	3	4	185	1	0	0	0	0	1	0	0	0	6436	768	27	1	2626	1	GLG1	16	74527016	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	20828143	74527016	15827737	155	97492											
OR1A1	8383	broad.mit.edu	37	chr17	3119403	3119403	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccacactctgctcacAgctagtctgtccttctgtgg	7	17	4	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr17:3119403A>G	uc010vrc.1	+	1	489	c.489A>G	c.(487-489)ACA>ACG	p.T163T		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTCTGCTCACAGCTAGTCTGT	0.483													G	3119403	A	G	3119403	2	3	185	1	0	0	0	0	0	0	0	1	10949	175	7	3		3	OR1A1	17	3119403	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08		3119403	78075807	156	97493											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	13	15	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr17:7578403C>A	uc002gim.2	-	5	721	c.527G>T	c.(526-528)TGC>TTC	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578403	C	A	7578403	3	1	185	1	0	0	0	0	1	0	0	0	16378	710	25	5	771	5	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	4459000	7578403	73616807	157	97494											
CORO6	84940	broad.mit.edu	37	chr17	27944627	27944627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatcccctcgtgggccGcaaacctctcctggggggag	13	16	2	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr17:27944627G>A	uc002hel.2	-	5	646	c.644C>T	c.(643-645)GCG>GTG	p.A215V	CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	215					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CTCGTGGGCCGCAAACCTCTC	0.662													A	27944627	G	A	27944627	3	1	185	1	0	0	0	0	1	0	0	0	3758	1087	38	1	798	1	CORO6	17	27944627	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	20366224	27944627	53250583	158	97495											
AMAC1	146861	broad.mit.edu	37	chr17	33520885	33520885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaccctggctctcaaggcAgagagtgaggacggcggagc	17	10	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr17:33520885A>G	uc002hjd.2	-	1	528	c.442T>C	c.(442-444)TGC>CGC	p.C148R		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	148	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		CTCTCAAGGCAGAGAGTGAGG	0.577													G	33520885	A	G	33520885	3	3	185	1	0	0	0	0	1	0	0	0	559	188	7	3	578	3	AMAC1	17	33520885	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	5576258	33520885	47674325	159	97496											
GAS2L2	246176	broad.mit.edu	37	chr17	34073002	34073002	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagcagggggcagccggAtggggatcttggttaggcct	20	8	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr17:34073002A>T	uc002hjv.1	-	6	1542	c.1514T>A	c.(1513-1515)ATC>AAC	p.I505N		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	505					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGCAGCCGGATGGGGATCTT	0.607													T	34073002	A	T	34073002	3	4	185	1	0	0	0	0	1	0	0	0	6247	333	12	5	1132	5	GAS2L2	17	34073002	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	552117	34073002	47122208	160	97497											
SC65	10609	broad.mit.edu	37	chr17	39967493	39967493	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcttcgggttcctctggAggaaggtgtaggccgccgcc	16	12	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr17:39967493A>C	uc002hxt.2	-	2	790	c.506T>G	c.(505-507)CTC>CGC	p.L169R	FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.L260R	NM_006455	NP_006446	Q92791	SC65_HUMAN	synaptonemal complex protein SC65	169					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.149)		GTTCCTCTGGAGGAAGGTGTA	0.672													C	39967493	A	C	39967493	3	2	185	1	0	0	0	0	1	0	0	0	13867	304	11	5	835	5	SC65	17	39967493	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	5894491	39967493	41227717	161	97498											
RNF157	114804	broad.mit.edu	37	chr17	74157975	74157975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgcagcgtgtctgcacAggtgttacagaggcagaggt	16	8	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr17:74157975A>G	uc002jqz.2	-	10	970	c.901T>C	c.(901-903)TGT>CGT	p.C301R	RNF157_uc002jra.2_Missense_Mutation_p.C301R	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	301	RING-type.						zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGTCTGCACAGGTGTTACAG	0.607													G	74157975	A	G	74157975	3	3	185	1	0	0	0	0	1	0	0	0	13454	188	7	3	1178	3	RNF157	17	74157975	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	34190482	74157975	7037235	162	97499											
APCDD1	147495	broad.mit.edu	37	chr18	10471557	10471557	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtcaggcccagagttcatCacaaggtcctacagattcta	9	11	4	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr18:10471557C>A	uc002kom.3	+	3	627	c.273C>A	c.(271-273)ATC>ATA	p.I91I		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	91	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		CAGAGTTCATCACAAGGTCCT	0.438													A	10471557	C	A	10471557	2	1	185	1	0	0	0	0	0	0	0	1	765	816	29	5		5	APCDD1	18	10471557	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08		10471557	67605691	163	97500											
SERPINB11	89778	broad.mit.edu	37	chr18	61378588	61378588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttcattttagtcataCtgtagactcattaaaaccag	7	8	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr18:61378588C>A	uc002ljk.3	+	3	250	c.188C>A	c.(187-189)ACT>AAT	p.T63N	SERPINB11_uc010xes.1_Translation_Start_Site|SERPINB11_uc010dqd.2_Translation_Start_Site|SERPINB11_uc002ljj.3_Translation_Start_Site|SERPINB11_uc010dqe.2_Translation_Start_Site|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	63					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				TTTAGTCATACTGTAGACTCA	0.333													A	61378588	C	A	61378588	3	1	185	1	0	0	0	0	1	0	0	0	14098	565	20	5	194	5	SERPINB11	18	61378588	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	50907031	61378588	16698660	164	97501											
EBI3	10148	broad.mit.edu	37	chr19	4236942	4236942	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctcaggtggggcccAttgaagccacgtccttcatc	9	14	4	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:4236942A>T	uc002lzu.2	+	5	555	c.547A>T	c.(547-549)ATT>TTT	p.I183F		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	183	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGGGCCCATTGAAGCCAC	0.602													T	4236942	A	T	4236942	3	4	185	1	0	0	0	0	1	0	0	0	4883	217	8	5	565	5	EBI3	19	4236942	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08		4236942	54892041	165	97502											
PEX11G	92960	broad.mit.edu	37	chr19	7542209	7542209	+	Frame_Shift_Del	DEL	C	C	-													agcggccggcccacagcacgCcccggggcagccagtgcacg							TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:7542209delC	uc002mgk.1	-	5	614	c.605delG	c.(604-606)GGCfs	p.G202fs	PEX11G_uc002mgl.1_Frame_Shift_Del_p.G132fs	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	202	Lumenal (Potential).					integral to membrane|peroxisomal membrane					0						CCACAGCACGCCCCGGGGCAG	0.711													-	7542209	C	-	7542209	7	5	185	1	0	1	0	1	0	0	0	0	11739	739	26	0	124	0	PEX11G	19	7542209	Frame_Shift_Del	DEL	C	TCGA-CG-5717-01A-11D-1600-08	3305267	7542209	51586774	166	97503											
MUC16	94025	broad.mit.edu	37	chr19	9015743	9015743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcaccaggagagggccagCagctgtagtgggaattgaaa	16	8	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:9015743C>A	uc002mkp.2	-	29	38284	c.38080G>T	c.(38080-38082)GCT>TCT	p.A12694S	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12696	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGAGGGCCAGCAGCTGTAGTG	0.428													A	9015743	C	A	9015743	3	1	185	1	0	0	0	0	1	0	0	0	9973	710	25	5	5667	5	MUC16	19	9015743	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	1473534	9015743	50113240	167	97504											
OR7D4	125958	broad.mit.edu	37	chr19	9325461	9325461	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgcagttcaggatcatctGagagtcccaggaggagaaat	13	8	3	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:9325461G>C	uc002mla.1	-	1	53	c.53C>G	c.(52-54)TCA>TGA	p.S18*		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGGATCATCTGAGAGTCCCAG	0.498													C	9325461	G	C	9325461	4	2	185	1	0	0	0	0	0	1	0	0	11220	1294	45	5	889	5	OR7D4	19	9325461	Nonsense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	309718	9325461	49803522	168	97505											
SLC1A6	6511	broad.mit.edu	37	chr19	15073090	15073090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggcatggaggcacccGgctcagacccgttctctgtc	14	13	2	1	rs141656938	byFrequency	TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:15073090G>A	uc002naa.1	-	5	667	c.659C>T	c.(658-660)CCG>CTG	p.P220L	SLC1A6_uc010dzu.1_Missense_Mutation_p.P220L|SLC1A6_uc010xod.1_Missense_Mutation_p.P156L|SLC1A6_uc002nab.2_Missense_Mutation_p.P220L|SLC1A6_uc002nac.2_Missense_Mutation_p.P220L	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	220	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GGAGGCACCCGGCTCAGACCC	0.542													A	15073090	G	A	15073090	3	1	185	1	0	0	0	0	1	0	0	0	14436	1116	39	1	1055	1	SLC1A6	19	15073090	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	5747629	15073090	44055893	169	97506											
GPATCH1	55094	broad.mit.edu	37	chr19	33579069	33579069	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagaaaccaatccctcttCaggatcagactgtcagagat	7	11	4	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:33579069C>T	uc002nug.1	+	2	417	c.103C>T	c.(103-105)CAG>TAG	p.Q35*		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	35						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					AATCCCTCTTCAGGATCAGAC	0.363													T	33579069	C	T	33579069	4	4	185	1	0	0	0	0	0	1	0	0	6590	827	29	4	109	4	GPATCH1	19	33579069	Nonsense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	18505979	33579069	25549914	170	97507											
LSM14A	26065	broad.mit.edu	37	chr19	34710403	34710403	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaaatttgagaaagactttGactttgaaagtgcaaatgca	9	4	0	5			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:34710403G>C	uc002nvb.3	+	7	1085	c.889G>C	c.(889-891)GAC>CAC	p.D297H	LSM14A_uc002nva.3_Missense_Mutation_p.D297H|LSM14A_uc010xru.1_Missense_Mutation_p.D256H|LSM14A_uc002nvc.3_Missense_Mutation_p.D103H	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	297	DFDF.				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					GAAAGACTTTGACTTTGAAAG	0.418													C	34710403	G	C	34710403	3	2	185	1	0	0	0	0	1	0	0	0	9054	1290	45	5	915	5	LSM14A	19	34710403	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	1131334	34710403	24418580	171	97508											
UBA2	10054	broad.mit.edu	37	chr19	34949798	34949798	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgcggctgaatgtccAtaaagtgactgttctcacct	10	10	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:34949798A>C	uc002nvk.2	+	13	1440	c.1370A>C	c.(1369-1371)CAT>CCT	p.H457P	UBA2_uc010xrx.1_Missense_Mutation_p.H330P|UBA2_uc002nvl.2_Missense_Mutation_p.H361P	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	457					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGAATGTCCATAAAGTGACT	0.458													C	34949798	A	C	34949798	3	2	185	1	0	0	0	0	1	0	0	0	16825	217	8	5	1420	5	UBA2	19	34949798	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	239395	34949798	24179185	172	97509											
ZNF345	25850	broad.mit.edu	37	chr19	37369066	37369066	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagccttactcagcatcAgagaattcatacaggtgaga	8	10	4	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:37369066A>C	uc002oex.2	+	3	1712	c.1334A>C	c.(1333-1335)CAG>CCG	p.Q445P	ZNF345_uc002oey.3_Missense_Mutation_p.Q445P|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	445	C2H2-type 14.				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			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCAGCATCAGAGAATTCAT	0.418													C	37369066	A	C	37369066	3	2	185	1	0	0	0	0	1	0	0	0	17856	188	7	5	1336	5	ZNF345	19	37369066	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	2419268	37369066	21759917	173	97510											
ZNF284	342909	broad.mit.edu	37	chr19	44585178	44585178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgtaggaggcagtgaCcttcaaggatgtggctgtgg	17	5	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:44585178C>T	uc002oyg.1	+	3	242	c.26C>T	c.(25-27)ACC>ATC	p.T9I	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				GAGGCAGTGACCTTCAAGGAT	0.527													T	44585178	C	T	44585178	3	4	185	1	0	0	0	0	1	0	0	0	17818	507	18	4	32	4	ZNF284	19	44585178	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	7216112	44585178	14543805	174	97511											
CRX	1406	broad.mit.edu	37	chr19	48342695	48342695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagaggaaggcgggcacgtCcccaagaccctccacagatg	12	14	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:48342695C>T	uc002phq.3	+	4	575	c.371C>T	c.(370-372)TCC>TTC	p.S124F		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	124					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-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;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCGGGCACGTCCCCAAGACCC	0.552													T	48342695	C	T	48342695	3	4	185	1	0	0	0	0	1	0	0	0	3902	855	30	4	381	4	CRX	19	48342695	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	3757517	48342695	10786288	175	97512											
IZUMO1	284359	broad.mit.edu	37	chr19	49244646	49244646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttctcgggctgcagagGctggaggcttatggacgact	14	9	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:49244646G>T	uc002pkj.2	-	9	1392	c.844C>A	c.(844-846)CCT>ACT	p.P282T	RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	282	Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane				ovary(1)	1		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)		GGCTGCAGAGGCTGGAGGCTT	0.552													T	49244646	G	T	49244646	3	4	185	1	0	0	0	0	1	0	0	0	7933	1203	42	5	216	5	IZUMO1	19	49244646	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	901951	49244646	9884337	176	97513											
TULP2	7288	broad.mit.edu	37	chr19	49391498	49391498	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtagactcagaggcctctctCttcttttccaagtcttcttc	6	13	6	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:49391498C>T	uc002pkz.2	-	8	808	c.657G>A	c.(655-657)AAG>AAA	p.K219K		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	219					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGGCCTCTCTCTTCTTTTCCA	0.547													T	49391498	C	T	49391498	2	4	185	1	0	0	0	0	0	0	0	1	16771	912	32	4		4	TULP2	19	49391498	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	146852	49391498	9737485	177	97514											
CPT1C	126129	broad.mit.edu	37	chr19	50210790	50210790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagctggtttgacaaatcCttcaccctaatcgtcttctc	6	13	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:50210790C>T	uc002ppj.2	+	12	1564	c.1359C>T	c.(1357-1359)TCC>TCT	p.S453S	CPT1C_uc002ppl.3_Silent_p.S419S|CPT1C_uc002ppi.2_Silent_p.S370S|CPT1C_uc002ppk.2_Silent_p.S442S|CPT1C_uc010eng.2_Silent_p.S453S|CPT1C_uc010enh.2_Silent_p.S453S|CPT1C_uc010ybc.1_Silent_p.S324S|CPT1C_uc010eni.1_Silent_p.S110S	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	453	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		TTGACAAATCCTTCACCCTAA	0.592													T	50210790	C	T	50210790	2	4	185	1	0	0	0	0	0	0	0	1	3833	668	24	4		4	CPT1C	19	50210790	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	819292	50210790	8918193	178	97515											
ZNF611	81856	broad.mit.edu	37	chr19	53209471	53209471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctcaacagtgtgacaTctatcatggcatgcaaggta	10	8	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:53209471T>C	uc002pzz.2	-	7	1154	c.837A>G	c.(835-837)AGA>AGG	p.R279R	ZNF611_uc010eqc.2_Silent_p.R209R|ZNF611_uc010ydo.1_Silent_p.R209R|ZNF611_uc010ydr.1_Silent_p.R210R|ZNF611_uc010ydp.1_Silent_p.R279R|ZNF611_uc010ydq.1_Silent_p.R279R|ZNF611_uc002qaa.3_Silent_p.R209R	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	279	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CAGTGTGACATCTATCATGGC	0.418													C	53209471	T	C	53209471	2	2	185	1	0	0	0	0	0	0	0	1	18034	1432	50	3		3	ZNF611	19	53209471	Silent	SNP	T	TCGA-CG-5717-01A-11D-1600-08	2998681	53209471	5919512	179	97516											
NLRP5	126206	broad.mit.edu	37	chr19	56538777	56538777	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgttcaccctcatacgcaGtctgctgaggaaggtcctgc	10	14	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:56538777G>C	uc002qmj.2	+	7	1178	c.1178G>C	c.(1177-1179)AGT>ACT	p.S393T	NLRP5_uc002qmi.2_Missense_Mutation_p.S374T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	393	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCATACGCAGTCTGCTGAGG	0.552													C	56538777	G	C	56538777	3	2	185	1	0	0	0	0	1	0	0	0	10480	1029	36	5	1204	5	NLRP5	19	56538777	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	3329306	56538777	2590206	180	97517											
ZNF667	63934	broad.mit.edu	37	chr19	56953014	56953014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgattggcggccgaaaacTttactacatttattgcattt	7	7	0	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:56953014T>G	uc002qnd.2	-	5	1512	c.1350A>C	c.(1348-1350)AAA>AAC	p.K450N	ZNF667_uc010etl.2_Missense_Mutation_p.K232N|ZNF667_uc002qne.2_Missense_Mutation_p.K450N|ZNF667_uc010etm.2_Missense_Mutation_p.K393N	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	450	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGCCGAAAACTTTACTACATT	0.373													G	56953014	T	G	56953014	3	3	185	1	0	0	0	0	1	0	0	0	18071	1606	56	5	486	5	ZNF667	19	56953014	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	414237	56953014	2175969	181	97518											
ZNF667	63934	broad.mit.edu	37	chr19	56953179	56953179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagggatgaatgccgattGcagaccttctcacatttatt	8	8	1	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:56953179G>A	uc002qnd.2	-	5	1347	c.1185C>T	c.(1183-1185)TGC>TGT	p.C395C	ZNF667_uc010etl.2_Silent_p.C177C|ZNF667_uc002qne.2_Silent_p.C395C|ZNF667_uc010etm.2_Silent_p.C338C	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	395	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AATGCCGATTGCAGACCTTCT	0.363													A	56953179	G	A	56953179	2	1	185	1	0	0	0	0	0	0	0	1	18071	1311	46	2		2	ZNF667	19	56953179	Silent	SNP	G	TCGA-CG-5717-01A-11D-1600-08	165	56953179	2175804	182	97519											
ZNF418	147686	broad.mit.edu	37	chr19	58439142	58439142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaacactgcttctatagGgtttctctccaaggtactga	7	12	3	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr19:58439142G>A	uc002qqs.1	-	4	699	c.407C>T	c.(406-408)CCC>CTC	p.P136L	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.P51L	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GCTTCTATAGGGTTTCTCTCC	0.438													A	58439142	G	A	58439142	3	1	185	1	0	0	0	0	1	0	0	0	17892	1232	43	4	1627	4	ZNF418	19	58439142	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	1485963	58439142	689841	183	97520											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686499	3686499	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catggccatgtggagggtctCcaggtggccgacgccggtgg	18	11	1	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr20:3686499C>A	uc002wja.2	-	3	598	c.598G>T	c.(598-600)GAG>TAG	p.E200*	SIGLEC1_uc002wiz.3_Nonsense_Mutation_p.E200*|SIGLEC1_uc002wjc.2_Nonsense_Mutation_p.E111*	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	200	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TGGAGGGTCTCCAGGTGGCCG	0.642													A	3686499	C	A	3686499	4	1	185	1	0	0	0	0	0	1	0	0	14305	864	30	5	4607	5	SIGLEC1	20	3686499	Nonsense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08		3686499	59339021	184	97521											
MAVS	57506	broad.mit.edu	37	chr20	3842020	3842020	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccactggagccaccgtcaCttcctgctgagaggccaggg	12	15	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr20:3842020C>G	uc002wjw.3	+	4	503	c.334C>G	c.(334-336)CTT>GTT	p.L112V	MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	112	Pro-rich.|Cytoplasmic (Probable).				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				0						GCCACCGTCACTTCCTGCTGA	0.537													G	3842020	C	G	3842020	3	3	185	1	0	0	0	0	1	0	0	0	9338	565	20	5	344	5	MAVS	20	3842020	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	155521	3842020	59183500	185	97522											
PRNP	5621	broad.mit.edu	37	chr20	4680317	4680317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actatgaggaccgttactatCgtgaaaacatgcaccgttac	8	10	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr20:4680317C>T	uc002wku.2	+	2	814	c.451C>T	c.(451-453)CGT>TGT	p.R151C	PRNP_uc002wkv.2_Missense_Mutation_p.R151C|PRNP_uc002wkw.2_Missense_Mutation_p.R151C|PRNP_uc002wkx.2_Missense_Mutation_p.R151C|PRNP_uc002wkt.1_Missense_Mutation_p.R121C|PRNP_uc002wky.2_Missense_Mutation_p.R151C|PRNP_uc010gbe.1_Missense_Mutation_p.R151C	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	151	Interaction with GRB2, ERI3 and SYN1 (By similarity).				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(1)	1					Tetracycline(DB00759)	CCGTTACTATCGTGAAAACAT	0.527													T	4680317	C	T	4680317	3	4	185	1	0	0	0	0	1	0	0	0	12544	884	31	1	453	1	PRNP	20	4680317	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	838297	4680317	58345203	186	97523											
PHF20	51230	broad.mit.edu	37	chr20	34430649	34430649	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaggaaagagggcttgcatGaagaggatggatcttctgtg	16	4	2	4			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr20:34430649G>A	uc002xek.1	+	3	349	c.238G>A	c.(238-240)GAA>AAA	p.E80K	PHF20_uc002xei.1_Missense_Mutation_p.E80K|PHF20_uc010gfo.1_Missense_Mutation_p.E80K|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GGGCTTGCATGAAGAGGATGG	0.433													A	34430649	G	A	34430649	3	1	185	1	0	0	0	0	1	0	0	0	11831	1291	45	4	244	4	PHF20	20	34430649	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	29750332	34430649	28594871	187	97524											
CHD6	84181	broad.mit.edu	37	chr20	40050063	40050063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcccatctttgcttattgAgatggtaataacatcttttc	6	8	2	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr20:40050063A>G	uc002xka.1	-	31	5390	c.5212T>C	c.(5212-5214)TCA>CCA	p.S1738P		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTGCTTATTGAGATGGTAATA	0.458													G	40050063	A	G	40050063	3	3	185	1	0	0	0	0	1	0	0	0	3329	304	11	3	2963	3	CHD6	20	40050063	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	5619414	40050063	22975457	188	97525											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210789	28210789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgatcctgatattttttTacaagtagatccatttcccc	4	10	0	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr21:28210789T>C	uc002ymf.2	-	8	2628	c.2173A>G	c.(2173-2175)AAA>GAA	p.K725E		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	725	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GATATTTTTTTACAAGTAGAT	0.368													C	28210789	T	C	28210789	3	2	185	1	0	0	0	0	1	0	0	0	255	1763	61	3	738	3	ADAMTS1	21	28210789	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08		28210789	19919106	189	97526											
ABCG1	9619	broad.mit.edu	37	chr21	43645878	43645878	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggaggccactgagacggAcctgctgaatggacatctga	13	10	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr21:43645878A>C	uc002zaq.2	+	2	246	c.140A>C	c.(139-141)GAC>GCC	p.D47A	ABCG1_uc002zan.2_Missense_Mutation_p.D49A|ABCG1_uc002zam.2_Missense_Mutation_p.D25A|ABCG1_uc002zao.2_Missense_Mutation_p.D44A|ABCG1_uc002zap.2_Missense_Mutation_p.D47A|ABCG1_uc002zar.2_Missense_Mutation_p.D58A|ABCG1_uc011aev.1_Missense_Mutation_p.D58A	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	47	Cytoplasmic (Potential).				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			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	ACTGAGACGGACCTGCTGAAT	0.532													C	43645878	A	C	43645878	3	2	185	1	0	0	0	0	1	0	0	0	68	275	10	5	314	5	ABCG1	21	43645878	Missense_Mutation	SNP	A	TCGA-CG-5717-01A-11D-1600-08	15435089	43645878	4484017	190	97527											
RANBP1	5902	broad.mit.edu	37	chr22	20112860	20112860	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgatggagctgaagcccaacGcaggtagcgaccgtgcctgg	15	11	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr22:20112860G>C	uc002zro.1	+	4	489	c.340G>C	c.(340-342)GCA>CCA	p.A114P	RANBP1_uc011ahl.1_Missense_Mutation_p.A114P|RANBP1_uc002zrp.2_Missense_Mutation_p.A114P	NM_002882	NP_002873	P43487	RANG_HUMAN	RAN binding protein 1	114	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)	1	Colorectal(54;0.0993)					GAAGCCCAACGCAGGTAGCGA	0.617													C	20112860	G	C	20112860	3	2	185	1	0	0	0	0	1	0	0	0	13025	1087	38	5	354	5	RANBP1	22	20112860	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		20112860	31191706	191	97528											
HMGXB4	10042	broad.mit.edu	37	chr22	35660640	35660640	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acttctcttgattatttctaGatatttcgtctttggaatcg	6	7	3	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr22:35660640G>C	uc003anl.2	+	5	434	c.260_splice	c.e5-1	p.D87_splice	HMGXB4_uc011amh.1_Splice_Site|HMGXB4_uc003ank.2_Splice_Site	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1						endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						ATTATTTCTAGATATTTCGTC	0.398													C	35660640	G	C	35660640	5	2	185	1	0	0	0	0	0	0	1	0	7239	956	33	5	273	5	HMGXB4	22	35660640	Splice_Site	SNP	G	TCGA-CG-5717-01A-11D-1600-08	15547780	35660640	15643926	192	97529											
MFNG	4242	broad.mit.edu	37	chr22	37872993	37872993	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaagccagcacccccAgtggcaaaccagaactgtac	9	14	0	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr22:37872993A>T	uc003ass.1	-	5	758	c.588T>A	c.(586-588)ACT>ACA	p.T196T	MFNG_uc011ani.1_Silent_p.T74T|MFNG_uc011anj.1_Silent_p.T182T	NM_002405	NP_002396	O00587	MFNG_HUMAN	O-fucosylpeptide	196	Lumenal (Potential).				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			lung(1)	1	Melanoma(58;0.0574)					CAGCACCCCCAGTGGCAAACC	0.622													T	37872993	A	T	37872993	2	4	185	1	0	0	0	0	0	0	0	1	9525	175	7	5		5	MFNG	22	37872993	Silent	SNP	A	TCGA-CG-5717-01A-11D-1600-08	2212353	37872993	13431573	193	97530											
MGAT3	4248	broad.mit.edu	37	chr22	39884750	39884750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccgggggctggttcgaCggcacgcagcaggagtaccc	16	14	0	0			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chr22:39884750C>T	uc003axv.3	+	2	1637	c.1398C>T	c.(1396-1398)GAC>GAT	p.D466D	MGAT3_uc010gxy.2_Silent_p.D466D	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	466	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					GCTGGTTCGACGGCACGCAGC	0.632													T	39884750	C	T	39884750	2	4	185	1	0	0	0	0	0	0	0	1	9544	535	19	1		1	MGAT3	22	39884750	Silent	SNP	C	TCGA-CG-5717-01A-11D-1600-08	2011757	39884750	11419816	194	97531											
MID1	4281	broad.mit.edu	37	chrX	10535579	10535579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtcagttctgactccagTgtttccatcttcaggcaaag	9	11	4	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chrX:10535579T>C	uc004cte.3	-	2	200	c.9A>G	c.(7-9)ACA>ACG	p.T3T	MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Silent_p.T3T|MID1_uc004cth.3_Silent_p.T3T|MID1_uc004ctk.3_Silent_p.T3T|MID1_uc004cti.3_Silent_p.T3T|MID1_uc004ctj.3_Silent_p.T3T|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Silent_p.T3T|MID1_uc004ctn.1_Silent_p.T3T|MID1_uc004cto.1_Silent_p.T3T|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Silent_p.T3T|MID1_uc004ctu.2_Silent_p.T3T|MID1_uc004ctv.2_Silent_p.T3T|MID1_uc004ctw.2_Silent_p.T3T|MID1_uc010ndy.1_Silent_p.T3T|uc010ndz.1_5'Flank|MID1_uc004cty.2_Silent_p.T3T|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Silent_p.T3T|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Silent_p.T3T|MID1_uc004cud.1_Silent_p.T3T|MID1_uc004cue.1_Silent_p.T3T|MID1_uc004cuf.1_Silent_p.T3T|MID1_uc004cug.1_Silent_p.T3T	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	3					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			ovary(2)|pancreas(1)	3						CTGACTCCAGTGTTTCCATCT	0.502													C	10535579	T	C	10535579	2	2	185	1	0	0	0	0	0	0	0	1	9576	1683	59	3		3	MID1	23	10535579	Silent	SNP	T	TCGA-CG-5717-01A-11D-1600-08		10535579	144734981	195	97532											
WNK3	65267	broad.mit.edu	37	chrX	54324757	54324757	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttgagcaatcatcttcttCtgctaactccaccctcagtc	4	14	5	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chrX:54324757C>G	uc004dtd.1	-	7	1688	c.1249G>C	c.(1249-1251)GAA>CAA	p.E417Q	WNK3_uc004dtc.1_Missense_Mutation_p.E417Q	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	417					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			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TCATCTTCTTCTGCTAACTCC	0.363													G	54324757	C	G	54324757	3	3	185	1	0	0	0	0	1	0	0	0	17376	922	32	5	4225	5	WNK3	23	54324757	Missense_Mutation	SNP	C	TCGA-CG-5717-01A-11D-1600-08	43789178	54324757	100945803	196	97533											
AMOT	154796	broad.mit.edu	37	chrX	112058613	112058629	+	Frame_Shift_Del	DEL	GCATCCTTCCAACTCTT	GCATCCTTCCAACTCTT	-													agtcttgccaccttctcataGcatccttccaactcttgcct							TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chrX:112058612_112058628AGCATCCTTCCAACTCTT>A	uc004epr.3	-	1	1368_1384	c.1350_1366AAGAGTTGGAAGGATGCT>T	c.(1348-1368)caagagttggaaggatgctatfs	p.Q450fs	AMOT_uc004eps.3_Frame_Shift_Del_p.Q41fs|AMOT_uc004ept.1_Frame_Shift_Del_p.Q450fs	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	450					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	p.G45*(1)|p.R451*(1)|p.G454*(1)		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						ACCTTCTCATAGCATCCTTCCAACTCTTGCCTCAAGT	0.465													-	112058629	GCATCCTTCCAACTCTT	-	112058613	7	5	185	1	0	1	0	1	0	0	0	0	582	963	34	0	1929	0	AMOT	23	112058613	Frame_Shift_Del	DEL	GCATCCTTCCAACTCTT	TCGA-CG-5717-01A-11D-1600-08	57733856	112058613	43211947	197	97534											
ZBTB33	10009	broad.mit.edu	37	chrX	119387473	119387473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttgctgggcaagttgTtgaactgagctttataagag	12	6	1	3			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chrX:119387473T>C	uc004esn.1	+	2	431	c.203T>C	c.(202-204)GTT>GCT	p.V68A	ZBTB33_uc010nqm.1_Missense_Mutation_p.V68A	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	68	BTB.|Self-association (By similarity).|Interaction with NCOR1.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GGGCAAGTTGTTGAACTGAGC	0.378													C	119387473	T	C	119387473	3	2	185	1	0	0	0	0	1	0	0	0	17533	1725	60	3	205	3	ZBTB33	23	119387473	Missense_Mutation	SNP	T	TCGA-CG-5717-01A-11D-1600-08	7328860	119387473	35883087	198	97535											
MBNL3	55796	broad.mit.edu	37	chrX	131540373	131540373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctccagctgcgtttttaaGtgtggaggagggtgaaggta	15	5	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chrX:131540373G>T	uc004ewv.3	-	2	304	c.225C>A	c.(223-225)CAC>CAA	p.H75Q	uc004ewr.1_Intron|MBNL3_uc004eww.2_5'UTR|MBNL3_uc010nrl.1_RNA|MBNL3_uc004ews.2_5'UTR|MBNL3_uc004ewt.2_Missense_Mutation_p.H25Q|MBNL3_uc011muz.1_5'UTR|MBNL3_uc004ewu.3_Missense_Mutation_p.H75Q|MBNL3_uc004ewx.1_Missense_Mutation_p.H25Q	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	75					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					GCGTTTTTAAGTGTGGAGGAG	0.443													T	131540373	G	T	131540373	3	4	185	1	0	0	0	0	1	0	0	0	9355	1020	36	5	928	5	MBNL3	23	131540373	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	12152900	131540373	23730187	199	97536											
MAGEA4	4103	broad.mit.edu	37	chrX	151092840	151092840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggggtgtatgatgggaGggagcacactgtctatgggg	20	4	1	1			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chrX:151092840G>A	uc004fez.2	+	3	860	c.704G>A	c.(703-705)AGG>AAG	p.R235K	MAGEA4_uc004ffa.2_Missense_Mutation_p.R235K|MAGEA4_uc004ffb.2_Missense_Mutation_p.R235K|MAGEA4_uc004ffc.2_Missense_Mutation_p.R235K|MAGEA4_uc004ffd.2_Missense_Mutation_p.R235K	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	235	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TATGATGGGAGGGAGCACACT	0.572													A	151092840	G	A	151092840	3	1	185	1	0	0	0	0	1	0	0	0	9168	1000	35	4	706	4	MAGEA4	23	151092840	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08	19552467	151092840	4177720	200	97537											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925229	4925229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcactaccggcgctcGcattgatcgtgagaaattat	9	10	2	2			TCGA-CG-5717-01A-11D-1600-08	TCGA-CG-5717-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0deb62f-0473-47f1-8ee2-03c8fbc96c90	456e4a1c-0b69-4e93-900d-345ef80765c5	g.chrY:4925229G>A	uc004fqo.2	+	1	1099	c.365G>A	c.(364-366)CGC>CAC	p.R122H	PCDH11Y_uc010nwg.1_Missense_Mutation_p.R111H|PCDH11Y_uc004fql.1_Missense_Mutation_p.R111H|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R111H|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R122H	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	122	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						ACCGGCGCTCGCATTGATCGT	0.443													A	4925229	G	A	4925229	3	1	185	1	0	0	0	0	1	0	0	0	11509	1087	38	1	403	1	PCDH11Y	24	4925229	Missense_Mutation	SNP	G	TCGA-CG-5717-01A-11D-1600-08		4925229	54448337	201	97538											
ACTRT2	140625	broad.mit.edu	37	chr1	2938675	2938675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctacctgtcggaccaggCggtgctggctctctacgcct	11	14	2	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:2938675C>A	uc001ajz.2	+	1	630	c.425C>A	c.(424-426)GCG>GAG	p.A142E		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	142						cytoplasm|cytoskeleton					0	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)		TCGGACCAGGCGGTGCTGGCT	0.622													A	2938675	C	A	2938675	3	1	186	1	0	0	0	0	1	0	0	0	219	768	27	5	427	5	ACTRT2	1	2938675	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		2938675	246311946	1	97539											
CHD5	26038	broad.mit.edu	37	chr1	6189111	6189111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgttctggccgatgcGgtgggcgcggctgaaggcct	16	11	2	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:6189111G>A	uc001amb.1	-	23	3506	c.3406C>T	c.(3406-3408)CGC>TGC	p.R1136C	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1136	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		TGGCCGATGCGGTGGGCGCGG	0.632													A	6189111	G	A	6189111	3	1	186	1	0	0	0	0	1	0	0	0	3328	1116	39	1	2534	1	CHD5	1	6189111	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	3250436	6189111	243061510	2	97540											
DHRS3	9249	broad.mit.edu	37	chr1	12638806	12638806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcagcactgtggtggcgCtgactcccggacagtccagc	15	13	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:12638806C>T	uc001auc.2	-	4	1105	c.638G>A	c.(637-639)AGC>AAC	p.S213N	DHRS3_uc001aub.2_Missense_Mutation_p.S128N	NM_004753	NP_004744	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	213	Helical; (Potential).				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			skin(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGTGGTGGCGCTGACTCCCGG	0.617													T	12638806	C	T	12638806	3	4	186	1	0	0	0	0	1	0	0	0	4491	797	28	2	282	2	DHRS3	1	12638806	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	6449695	12638806	236611815	3	97541											
EPHA8	2046	broad.mit.edu	37	chr1	22922618	22922618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgtggctacagcaagGccttccaggactcggacgag	14	12	0	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:22922618G>A	uc001bfx.1	+	9	1842	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	573	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		CTACAGCAAGGCCTTCCAGGA	0.662													A	22922618	G	A	22922618	3	1	186	1	0	0	0	0	1	0	0	0	5173	1203	42	2	1924	2	EPHA8	1	22922618	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	10283812	22922618	226328003	4	97542											
BAI2	576	broad.mit.edu	37	chr1	32207043	32207043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcccccagtacgccacGccttgggcactgaggagaca	13	15	0	2	rs149204497		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:32207043G>A	uc001btn.2	-	11	2079	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	BAI2_uc010ogo.1_Silent_p.G217G|BAI2_uc010ogp.1_Silent_p.G508G|BAI2_uc010ogq.1_Silent_p.G575G|BAI2_uc001bto.2_Silent_p.G575G|BAI2_uc001btq.1_Silent_p.G508G|BAI2_uc010ogr.1_Intron	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	575	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G575G(1)		lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTACGCCACGCCTTGGGCAC	0.647													A	32207043	G	A	32207043	2	1	186	1	0	0	0	0	0	0	0	1	1299	1074	38	1		1	BAI2	1	32207043	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	9284425	32207043	217043578	5	97543											
USP21	27005	broad.mit.edu	37	chr1	161134660	161134661	+	Frame_Shift_Ins	INS	-	-	A													tgcctcccgaggctccatcaINSaaaaaagttcagtaggtgta							TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:161134659_161134660C>CA	uc010pkc.2	+	11	1796_1797	c.1419_1420C>CA	c.(1417-1422)atcaaafs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Ins_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|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)			GAGGCTCCATCAAAAAAAGTTC	0.515													A	161134661	-	A	161134660	7	5	186	1	0	1	1	0	0	0	0	0	17050	131	5	0	1458	0	USP21	1	161134660	Frame_Shift_Ins	INS	-	TCGA-CG-5718-01A-11D-1600-08	128927617	161134660	88115961	6	97544											
TIPRL	261726	broad.mit.edu	37	chr1	168153206	168153206	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggagacaacgttttaagaatCcagcatgggtctggctttgg	13	7	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:168153206C>G	uc001gfg.2	+	2	316	c.171C>G	c.(169-171)ATC>ATG	p.I57M	TIPRL_uc001gfh.2_Missense_Mutation_p.I57M|TIPRL_uc001gff.2_Missense_Mutation_p.I57M	NM_152902	NP_690866	O75663	TIPRL_HUMAN	TIP41, TOR signalling pathway regulator-like	57					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			ovary(1)	1	all_hematologic(923;0.215)					TTTTAAGAATCCAGCATGGGT	0.403													G	168153206	C	G	168153206	3	3	186	1	0	0	0	0	1	0	0	0	15923	845	30	5	177	5	TIPRL	1	168153206	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	7018546	168153206	81097415	7	97545											
KCNT2	343450	broad.mit.edu	37	chr1	196398783	196398783	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccatgtttcaggagtgAcatccccgaagcccacagta	10	12	1	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:196398783A>G	uc001gtd.1	-	9	803	c.743T>C	c.(742-744)GTC>GCC	p.V248A	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.V248A|KCNT2_uc001gtf.1_Missense_Mutation_p.V248A|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.V248A|KCNT2_uc009wyv.1_Missense_Mutation_p.V223A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	248						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTCAGGAGTGACATCCCCGAA	0.423													G	196398783	A	G	196398783	3	3	186	1	0	0	0	0	1	0	0	0	8092	275	10	3	2744	3	KCNT2	1	196398783	Missense_Mutation	SNP	A	TCGA-CG-5718-01A-11D-1600-08	28245577	196398783	52851838	8	97546											
CFHR4	10877	broad.mit.edu	37	chr1	196887428	196887428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatattatgcaaaaacaggGgataccattgaatttatgtg	8	4	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:196887428G>A	uc001gto.2	+	6	957	c.888G>A	c.(886-888)GGG>GGA	p.G296G	CFHR4_uc009wyy.2_Silent_p.G542G|CFHR4_uc001gtp.2_Silent_p.G543G	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	296	Sushi 5.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						CAAAAACAGGGGATACCATTG	0.318													A	196887428	G	A	196887428	2	1	186	1	0	0	0	0	0	0	0	1	3287	1219	43	4		4	CFHR4	1	196887428	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	488645	196887428	52363193	9	97547											
PTPRC	5788	broad.mit.edu	37	chr1	198703498	198703498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatttctggaggatgattTgggaacagaaagccacagtt	12	5	1	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr1:198703498T>C	uc001gur.1	+	22	2395	c.2215T>C	c.(2215-2217)TGG>CGG	p.W739R	PTPRC_uc001gus.1_Missense_Mutation_p.W691R|PTPRC_uc001gut.1_Missense_Mutation_p.W578R|PTPRC_uc010ppg.1_Missense_Mutation_p.W675R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	739	Cytoplasmic (Potential).|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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GAGGATGATTTGGGAACAGAA	0.383													C	198703498	T	C	198703498	3	2	186	1	0	0	0	0	1	0	0	0	12797	1812	63	3	2308	3	PTPRC	1	198703498	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	1816070	198703498	50547123	10	97548											
TPO	7173	broad.mit.edu	37	chr2	1437238	1437238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaaaagaggaatcctttctCcagctcagcttctgtctttt	7	10	4	2	rs17855780	byFrequency	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:1437238C>A	uc002qww.2	+	4	299	c.208C>A	c.(208-210)CCA>ACA	p.P70T	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.P70T|TPO_uc002qwu.2_Missense_Mutation_p.P70T|TPO_uc002qwr.2_Missense_Mutation_p.P70T|TPO_uc002qwx.2_Missense_Mutation_p.P70T|TPO_uc010yio.1_Missense_Mutation_p.P70T|TPO_uc010yip.1_Missense_Mutation_p.P70T	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	70	Extracellular (Potential).			P -> G (in Ref. 5; AAA61217).	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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	AATCCTTTCTCCAGCTCAGCT	0.368													A	1437238	C	A	1437238	3	1	186	1	0	0	0	0	1	0	0	0	16407	855	30	5	218	5	TPO	2	1437238	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		1437238	241762135	11	97549											
APOB	338	broad.mit.edu	37	chr2	21238076	21238077	+	Frame_Shift_Ins	INS	-	-	T													acagggaaattggaagtcatINSttttttggtatctacattgg							TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:21238075_21238076A>AT	uc002red.3	-	22	3693_3694	c.3565_3566T>AT	c.(3565-3567)atgfs	p.M1189fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1189					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)	ATTGGAAGTCATTTTTTTGGTA	0.396													T	21238077	-	T	21238076	7	5	186	1	0	1	1	0	0	0	0	0	785	1493	52	0	10154	0	APOB	2	21238076	Frame_Shift_Ins	INS	-	TCGA-CG-5718-01A-11D-1600-08	19800838	21238076	221961297	12	97550											
BIRC6	57448	broad.mit.edu	37	chr2	32715111	32715111	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctcttttctgcatagcatCaataactagctttctcacag	4	11	4	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:32715111C>G	uc010ezu.2	+	43	8233	c.8099C>G	c.(8098-8100)TCA>TGA	p.S2700*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2700					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGCATAGCATCAATAACTAGC	0.348													G	32715111	C	G	32715111	4	3	186	1	0	0	0	0	0	1	0	0	1438	838	29	5	8269	5	BIRC6	2	32715111	Nonsense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	11477035	32715111	210484262	13	97551											
CCDC75	253635	broad.mit.edu	37	chr2	37321291	37321291	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagactgaagaagatgaaGaagaaaaagaacaggatgaa	13	2	0	9			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:37321291G>A	uc010ezz.2	+	7	740	c.595G>A	c.(595-597)GAA>AAA	p.E199K	CCDC75_uc002rpr.3_Missense_Mutation_p.E96K	NM_174931	NP_777591	Q8N954	CCD75_HUMAN	coiled-coil domain containing 75	199						intracellular	nucleic acid binding				0		all_hematologic(82;0.21)				agaagatgaagaagaaaaaga	0.234													A	37321291	G	A	37321291	3	1	186	1	0	0	0	0	1	0	0	0	2849	943	33	4	617	4	CCDC75	2	37321291	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	4606180	37321291	205878082	14	97552											
SIX3	6496	broad.mit.edu	37	chr2	45170028	45170028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccggcggcagcgcgaccGcgccgcggcggccaagaaca	16	16	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:45170028G>A	uc002run.1	+	1	992	c.785G>A	c.(784-786)CGC>CAC	p.R262H		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	262	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGCGCGACCGCGCCGCGGCG	0.677													A	45170028	G	A	45170028	3	1	186	1	0	0	0	0	1	0	0	0	14348	1087	38	1	787	1	SIX3	2	45170028	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	7848737	45170028	198029345	15	97553											
MEIS1	4211	broad.mit.edu	37	chr2	66739342	66739342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgatgatgaccctgataaGgacaaaaagcgtcacaaaaa	9	8	1	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:66739342G>A	uc002sdu.2	+	8	1261	c.804G>A	c.(802-804)AAG>AAA	p.K268K	MEIS1_uc002sdt.2_Silent_p.K268K|MEIS1_uc002sdv.2_Silent_p.K266K|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Silent_p.K203K|MEIS1_uc002sdw.1_Silent_p.K124K	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	268	Asp/Glu-rich (acidic).|Poly-Asp.						sequence-specific DNA binding transcription factor activity				0						ACCCTGATAAGGACAAAAAGC	0.458													A	66739342	G	A	66739342	2	1	186	1	0	0	0	0	0	0	0	1	9467	991	35	4		4	MEIS1	2	66739342	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	21569314	66739342	176460031	16	97554											
SUCLG1	8802	broad.mit.edu	37	chr2	84670454	84670454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccagatgtgtctggcctCctttccctggagtggttcct	11	13	1	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:84670454C>T	uc002son.2	-	3	465	c.272G>A	c.(271-273)GGA>GAA	p.G91E	SUCLG1_uc010ysk.1_Missense_Mutation_p.G78E	NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming alpha subunit	91					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	TGTCTGGCCTCCTTTCCCTGG	0.498													T	84670454	C	T	84670454	3	4	186	1	0	0	0	0	1	0	0	0	15363	855	30	4	796	4	SUCLG1	2	84670454	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	17931112	84670454	158528919	17	97555											
ELMOD3	84173	broad.mit.edu	37	chr2	85598245	85598245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattcgaaggactgggctcGccgccctccgacactacctc	9	17	0	0	rs145555897	byFrequency	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:85598245G>A	uc002spf.3	+	10	1062	c.397G>A	c.(397-399)GCC>ACC	p.A133T	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Missense_Mutation_p.A133T|ELMOD3_uc002sph.3_Missense_Mutation_p.A133T|ELMOD3_uc010ysn.1_Missense_Mutation_p.A133T|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	133					phagocytosis	cytoskeleton				ovary(2)	2						GACTGGGCTCGCCGCCCTCCG	0.542													A	85598245	G	A	85598245	3	1	186	1	0	0	0	0	1	0	0	0	5070	1087	38	1	419	1	ELMOD3	2	85598245	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	927791	85598245	157601128	18	97556											
CNGA3	1261	broad.mit.edu	37	chr2	99008435	99008435	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacgagctcggacaggTgagtgtgccccaggcctggg	16	11	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:99008435T>A	uc002syt.2	+	7	1090	c.673_splice	c.e7+2	p.G225_splice	CNGA3_uc002syu.2_Splice_Site_p.G207_splice|CNGA3_uc010fij.2_Splice_Site_p.G229_splice	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform						signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						CTCGGACAGGTGAGTGTGCCC	0.597													A	99008435	T	A	99008435	5	1	186	1	0	0	0	0	0	0	1	0	3598	1710	59	5	697	5	CNGA3	2	99008435	Splice_Site	SNP	T	TCGA-CG-5718-01A-11D-1600-08	13410190	99008435	144190938	19	97557											
GPR55	9290	broad.mit.edu	37	chr2	231775023	231775023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaggctttctgctgcaCccagtcctgggtgtggtctc	13	12	2	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr2:231775023C>A	uc002vrg.2	-	2	848	c.655G>T	c.(655-657)GTG>TTG	p.V219L	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.V219L	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	219	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TTCTGCTGCACCCAGTCCTGG	0.612													A	231775023	C	A	231775023	3	1	186	1	0	0	0	0	1	0	0	0	6699	507	18	5	308	5	GPR55	2	231775023	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	132766588	231775023	11424350	20	97558											
ITPR1	3708	broad.mit.edu	37	chr3	4744539	4744539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtctttgtgcaacTgctgcaaggcgtgttcaggg	13	11	2	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:4744539T>C	uc003bqa.2	+	36	4883	c.4535T>C	c.(4534-4536)CTG>CCG	p.L1512P	ITPR1_uc010hca.1_Missense_Mutation_p.L1497P|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.L443P	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1521	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTTGTGCAACTGCTGCAAGGC	0.478													C	4744539	T	C	4744539	3	2	186	1	0	0	0	0	1	0	0	0	7920	1580	55	3	4696	3	ITPR1	3	4744539	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08		4744539	193277891	21	97559											
PTH1R	5745	broad.mit.edu	37	chr3	46937225	46937225	+	Missense_Mutation	SNP	C	C	G													taccaccctggtttctccagCcagcataatggaatcagaca							TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:46937225C>G	uc003cqm.2	+	5	382	c.179C>G	c.(178-180)GCC>GGC	p.A60G	PTH1R_uc003cqn.2_Missense_Mutation_p.A60G	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	60	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GTTTCTCCAGCCAGCATAATG	0.428									Ollier_disease_/_Maffuci_syndrome		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	46937225	C	G	46937225	3	3	186	1	0	0	0	0	1	0	0	0	12758	753	26	5	189	5	PTH1R	3	46937225	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	42192686	46937225	151085205	22	97560	485	2									
PTH1R	5745	broad.mit.edu	37	chr3	46937234	46937234	+	Missense_Mutation	SNP	T	T	G													ggtttctccagccagcataaTggaatcagacaagggatgga							TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:46937234T>G	uc003cqm.2	+	5	391	c.188T>G	c.(187-189)ATG>AGG	p.M63R	PTH1R_uc003cqn.2_Missense_Mutation_p.M63R	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	63	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GCCAGCATAATGGAATCAGAC	0.453									Ollier_disease_/_Maffuci_syndrome		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	46937234	T	G	46937234	3	3	186	1	0	0	0	0	1	0	0	0	12758	1464	51	5	198	5	PTH1R	3	46937234	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	9	46937234	151085196	23	97561	485	2									
ALCAM	214	broad.mit.edu	37	chr3	105266363	105266363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtggaagcgtcataaAccaagcaagtatttgtcttc	10	8	2	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:105266363A>G	uc003dvx.2	+	11	1910	c.1370A>G	c.(1369-1371)AAC>AGC	p.N457S	ALCAM_uc003dvw.1_Missense_Mutation_p.N457S|ALCAM_uc003dvy.2_Missense_Mutation_p.N457S|ALCAM_uc010hpp.2_Missense_Mutation_p.N179S|ALCAM_uc003dvz.2_Missense_Mutation_p.N91S	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	457	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						AGCGTCATAAACCAAGCAAGT	0.408													G	105266363	A	G	105266363	3	3	186	1	0	0	0	0	1	0	0	0	487	43	2	3	1412	3	ALCAM	3	105266363	Missense_Mutation	SNP	A	TCGA-CG-5718-01A-11D-1600-08	58329129	105266363	92756067	24	97562											
ARHGAP31	57514	broad.mit.edu	37	chr3	119118073	119118073	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctactatccgaccagctaAaagcatggactcactatgtt	8	11	1	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:119118073A>T	uc003ecj.3	+	9	1566	c.1034A>T	c.(1033-1035)AAA>ATA	p.K345I		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	345					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CGACCAGCTAAAAGCATGGAC	0.393													T	119118073	A	T	119118073	3	4	186	1	0	0	0	0	1	0	0	0	880	14	1	5	1068	5	ARHGAP31	3	119118073	Missense_Mutation	SNP	A	TCGA-CG-5718-01A-11D-1600-08	13851710	119118073	78904357	25	97563											
DZIP1L	199221	broad.mit.edu	37	chr3	137822729	137822729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtccatgctatcatggcGaggctgaaacttgaaggtgg	13	9	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr3:137822729G>A	uc003erq.2	-	2	448	c.85C>T	c.(85-87)CGC>TGC	p.R29C	DZIP1L_uc003err.1_Missense_Mutation_p.R29C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	29						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CTATCATGGCGAGGCTGAAAC	0.602													A	137822729	G	A	137822729	3	1	186	1	0	0	0	0	1	0	0	0	4864	1058	37	1	2287	1	DZIP1L	3	137822729	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	18704656	137822729	60199701	26	97564											
ZNF595	152687	broad.mit.edu	37	chr4	87098	87098	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctacaaatgcaaagaAtgtggcaaagcctataactt	6	9	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:87098A>G	uc003fzv.1	+	6	1860	c.1704A>G	c.(1702-1704)GAA>GAG	p.E568E	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Silent_p.E336E|ZNF595_uc011but.1_Silent_p.E336E	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	568					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		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)		AATGCAAAGAATGTGGCAAAG	0.393													G	87098	A	G	87098	2	3	186	1	0	0	0	0	0	0	0	1	18022	101	4	3		3	ZNF595	4	87098	Silent	SNP	A	TCGA-CG-5718-01A-11D-1600-08		87098	191067178	27	97565											
SLIT2	9353	broad.mit.edu	37	chr4	20530620	20530620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggagactgctttgcggatcTggcttgccctgaaaagtgtc	13	9	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:20530620T>A	uc003gpr.1	+	16	1715	c.1511T>A	c.(1510-1512)CTG>CAG	p.L504Q	SLIT2_uc003gps.1_Missense_Mutation_p.L496Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	504	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			central_nervous_system(4)|skin(4)|ovary(3)	11						TTTGCGGATCTGGCTTGCCCT	0.408													A	20530620	T	A	20530620	3	1	186	1	0	0	0	0	1	0	0	0	14740	1580	55	5	1573	5	SLIT2	4	20530620	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	20443522	20530620	170623656	28	97566											
YTHDC1	91746	broad.mit.edu	37	chr4	69179894	69179894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctctttctctatcacGtcctctatctcgctctctgt	3	15	7	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:69179894G>A	uc003hdx.2	-	17	2460	c.2107C>T	c.(2107-2109)CGT>TGT	p.R703C	YTHDC1_uc003hdy.2_Missense_Mutation_p.R685C	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	703	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						tctctatcacgtcctctatct	0.199													A	69179894	G	A	69179894	3	1	186	1	0	0	0	0	1	0	0	0	17493	1145	40	1	80	1	YTHDC1	4	69179894	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	48649274	69179894	121974382	29	97567											
ACSL1	2180	broad.mit.edu	37	chr4	185689562	185689562	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgagcagcctgatatctcCttggaaaaatccgattttag	8	9	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr4:185689562C>G	uc003iww.2	-	12	1330	c.1036G>C	c.(1036-1038)GGA>CGA	p.G346R	ACSL1_uc011ckm.1_Missense_Mutation_p.G175R|ACSL1_uc003iwt.1_Missense_Mutation_p.G346R|ACSL1_uc003iwu.1_Missense_Mutation_p.G346R|ACSL1_uc011ckn.1_Missense_Mutation_p.G312R|ACSL1_uc003iwv.1_Missense_Mutation_p.G346R|ACSL1_uc003iws.1_5'Flank|ACSL1_uc010ise.1_RNA	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	346	Cytoplasmic (Potential).				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			ovary(2)	2		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)	CTGATATCTCCTTGGAAAAAT	0.453													G	185689562	C	G	185689562	3	3	186	1	0	0	0	0	1	0	0	0	177	690	24	5	1100	5	ACSL1	4	185689562	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	116509668	185689562	5464714	30	97568											
ADCY2	108	broad.mit.edu	37	chr5	7521010	7521010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggagcacctggtctggCaggtgggtgcacctccacat	14	12	1	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:7521010C>A	uc003jdz.1	+	3	635	c.568C>A	c.(568-570)CAG>AAG	p.Q190K		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	190	Helical; (Potential).			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			ovary(5)|pancreas(1)|skin(1)	7						CCTGGTCTGGCAGGTGGGTGC	0.602													A	7521010	C	A	7521010	3	1	186	1	0	0	0	0	1	0	0	0	294	711	25	5	578	5	ADCY2	5	7521010	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		7521010	173394250	31	97569											
ACOT12	134526	broad.mit.edu	37	chr5	80641711	80641711	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggctcactttaccaggtctGaaatgtattgttgacaatgg	11	7	2	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:80641711G>T	uc003khl.3	-	7	821	c.766C>A	c.(766-768)CAG>AAG	p.Q256K	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	256	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TACCAGGTCTGAAATGTATTG	0.413													T	80641711	G	T	80641711	3	4	186	1	0	0	0	0	1	0	0	0	150	1299	45	5	937	5	ACOT12	5	80641711	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	73120701	80641711	100273549	32	97570											
APC	324	broad.mit.edu	37	chr5	112170788	112170788	+	Frame_Shift_Del	DEL	T	T	-													taccggagccagacaaacacTttagccattattgaaagtgg							TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:112170788delT	uc010jby.2	+	15	2264	c.1884delT	c.(1882-1884)ACTfs	p.T628fs	APC_uc011cvt.1_Frame_Shift_Del_p.T610fs|APC_uc003kpz.3_Frame_Shift_Del_p.T628fs|APC_uc003kpy.3_Frame_Shift_Del_p.T628fs|APC_uc010jbz.2_Frame_Shift_Del_p.T345fs|APC_uc010jca.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	628	Leu-rich.|ARM 4.				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)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		AGACAAACACTTTAGCCATTA	0.398		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			-	112170788	T	-	112170788	7	5	186	1	0	1	0	1	0	0	0	0	763	1596	56	0	1938	0	APC	5	112170788	Frame_Shift_Del	DEL	T	TCGA-CG-5718-01A-11D-1600-08	31529077	112170788	68744472	33	97571											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755889	140755889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtgggcgtggaaggggttCgggctttcctgcagacctat	16	8	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:140755889C>T	uc003ljy.1	+	1	2239	c.2239C>T	c.(2239-2241)CGG>TGG	p.R747W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.R747W	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	747	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGGGGTTCGGGCTTTCCT	0.597													T	140755889	C	T	140755889	3	4	186	1	0	0	0	0	1	0	0	0	11558	875	31	1	2241	1	PCDHGA6	5	140755889	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	28585101	140755889	40159371	34	97572											
ZNF300	91975	broad.mit.edu	37	chr5	150275535	150275535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttatgtataatgaggtgGgacttctcacagaaggcttt	10	6	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr5:150275535G>A	uc003lsy.1	-	6	1533	c.1266C>T	c.(1264-1266)TCC>TCT	p.S422S	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	422	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATGAGGTGGGACTTCTCAC	0.448													A	150275535	G	A	150275535	2	1	186	1	0	0	0	0	0	0	0	1	17828	1219	43	4		4	ZNF300	5	150275535	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	9519646	150275535	30639725	35	97573											
ZNF323	64288	broad.mit.edu	37	chr6	28294157	28294157	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgatgctgaacaaggcatGagctgaggaggaaagccttc	13	8	1	4			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:28294157G>A	uc003nla.2	-	4	1407	c.1007C>T	c.(1006-1008)TCA>TTA	p.S336L	ZNF323_uc003nld.2_Missense_Mutation_p.S336L|ZNF323_uc010jra.2_Missense_Mutation_p.S336L|ZNF323_uc003nlb.2_Missense_Mutation_p.S177L|ZNF323_uc010jrb.2_Missense_Mutation_p.S177L|ZNF323_uc003nlc.2_Missense_Mutation_p.S336L	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	336	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AACAAGGCATGAGCTGAGGAG	0.502													A	28294157	G	A	28294157	3	1	186	1	0	0	0	0	1	0	0	0	17840	1294	45	4	217	4	ZNF323	6	28294157	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08		28294157	142820910	36	97574											
OR11A1	26531	broad.mit.edu	37	chr6	29394891	29394891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaagtcacagtaaaactgGtcaatgtggttggggccaca	11	7	2	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:29394891G>T	uc003nmg.2	-	1	619	c.528C>A	c.(526-528)GAC>GAA	p.D176E		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGTAAAACTGGTCAATGTGGT	0.547													T	29394891	G	T	29394891	3	4	186	1	0	0	0	0	1	0	0	0	10924	1252	44	5	423	5	OR11A1	6	29394891	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	1100734	29394891	141720176	37	97575											
HLA-F	3134	broad.mit.edu	37	chr6	29692871	29692871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggccaccctgaggtgctGggccctgggcttctaccctg	14	14	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:29692871G>T	uc010jrl.2	+	4	798	c.674G>T	c.(673-675)TGG>TTG	p.W225L	HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.W225L|HLA-F_uc011dlx.1_Missense_Mutation_p.W225L|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	225	Alpha-3.|Extracellular (Potential).|Ig-like C1-type.				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				0						CTGAGGTGCTGGGCCCTGGGC	0.607													T	29692871	G	T	29692871	3	4	186	1	0	0	0	0	1	0	0	0	7211	1357	47	5	688	5	HLA-F	6	29692871	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	297980	29692871	141422196	38	97576											
HLA-A	3105	broad.mit.edu	37	chr6	29911302	29911302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacctggagaacgggaagGagacgctgcagcgcacgggt	17	9	0	2	rs41546018		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:29911302G>A	uc003nol.2	+	3	601	c.601G>A	c.(601-603)GAG>AAG	p.E201K	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Missense_Mutation_p.E80K|HLA-A_uc003nok.2_Missense_Mutation_p.E80K|HLA-A_uc003non.2_Missense_Mutation_p.E201K|HLA-A_uc003noo.2_Missense_Mutation_p.E201K|HLA-A_uc010jrr.2_Missense_Mutation_p.E201K|HLA-A_uc003nom.2_Missense_Mutation_p.E80K|HLA-A_uc010klp.2_Missense_Mutation_p.E173K|HLA-A_uc011dmc.1_Missense_Mutation_p.E80K|HLA-A_uc011dmd.1_Missense_Mutation_p.E80K	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	201	Extracellular (Potential).|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			upper_aerodigestive_tract(1)|ovary(1)	2						GAACGGGAAGGAGACGCTGCA	0.662									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			A	29911302	G	A	29911302	3	1	186	1	0	0	0	0	1	0	0	0	7195	1175	41	4	611	4	HLA-A	6	29911302	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	218431	29911302	141203765	39	97577											
PKHD1	5314	broad.mit.edu	37	chr6	51907736	51907736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtcttctccagtggcactGatggcaagaccagagggtct	13	10	3	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:51907736G>A	uc003pah.1	-	27	3294	c.3018C>T	c.(3016-3018)ATC>ATT	p.I1006I	PKHD1_uc003pai.2_Silent_p.I1006I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1006	IPT/TIG 4.|Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAGTGGCACTGATGGCAAGAC	0.478													A	51907736	G	A	51907736	2	1	186	1	0	0	0	0	0	0	0	1	11971	1280	45	4		4	PKHD1	6	51907736	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	21996434	51907736	119207331	40	97578											
NMBR	4829	broad.mit.edu	37	chr6	142409812	142409812	+	Translation_Start_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatgatctcctttccagcaGagtccgctggagttttcacg	10	12	2	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:142409812G>T	uc003qiu.2	-	1	125	c.-16C>A	c.(-18--14)CTCTG>CTATG			NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor						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			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CTTTCCAGCAGAGTCCGCTGG	0.577													T	142409812	G	T	142409812	1	4	186	1	0	0	0	0	0	0	0	0	10487	957	33	5		5	NMBR	6	142409812	Translation_Start_Site	SNP	G	TCGA-CG-5718-01A-11D-1600-08	90502076	142409812	28705255	41	97579											
GRM1	2911	broad.mit.edu	37	chr6	146678789	146678789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacaagagtggagtggtgCggtctgtgtgcagtgagcct	17	6	1	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:146678789C>T	uc010khw.1	+	6	2031	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	GRM1_uc010khv.1_Missense_Mutation_p.R521W|GRM1_uc003qll.2_Missense_Mutation_p.R521W|GRM1_uc011edz.1_Missense_Mutation_p.R521W|GRM1_uc011eea.1_Missense_Mutation_p.R521W	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	521	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGAGTGGTGCGGTCTGTGTG	0.468													T	146678789	C	T	146678789	3	4	186	1	0	0	0	0	1	0	0	0	6796	759	27	1	1579	1	GRM1	6	146678789	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	4268977	146678789	24436278	42	97580											
SYNE1	23345	broad.mit.edu	37	chr6	152652266	152652266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacttccttcattagttcGcgaccctgggcccaaagtcc	9	14	1	1	rs115535983	by1000genomes	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr6:152652266G>A	uc010kiw.2	-	78	14156	c.13554C>T	c.(13552-13554)CGC>CGT	p.R4518R	SYNE1_uc003qot.3_Silent_p.R4447R|SYNE1_uc003qou.3_Silent_p.R4518R|SYNE1_uc010kiz.2_Silent_p.R273R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4518	Cytoplasmic (Potential).|Spectrin 13.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTAGTTCGCGACCCTGGG	0.458										HNSCC(10;0.0054)			A	152652266	G	A	152652266	2	1	186	1	0	0	0	0	0	0	0	1	15442	1074	38	1		1	SYNE1	6	152652266	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	5973477	152652266	18462801	43	97581											
MACC1	346389	broad.mit.edu	37	chr7	20198397	20198397	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttttggtgataaaggagcAgacttgatttcctccttctt	8	7	1	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:20198397A>T	uc003sus.3	-	5	1896	c.1587T>A	c.(1585-1587)TCT>TCA	p.S529S	MACC1_uc010kug.2_Silent_p.S529S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	529					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						ATAAAGGAGCAGACTTGATTT	0.403													T	20198397	A	T	20198397	2	4	186	1	0	0	0	0	0	0	0	1	9143	175	7	5		5	MACC1	7	20198397	Silent	SNP	A	TCGA-CG-5718-01A-11D-1600-08		20198397	138940266	44	97582											
IGFBP1	3484	broad.mit.edu	37	chr7	45931540	45931540	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattctcttaggagccctgcCgaatagaactctacagagtc	8	11	2	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:45931540C>T	uc003tnp.2	+	3	822	c.529C>T	c.(529-531)CGA>TGA	p.R177*	IGFBP1_uc003tno.3_Nonsense_Mutation_p.R177*|IGFBP1_uc010kyn.2_Intron	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	177	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			lung(1)	1						GGAGCCCTGCCGAATAGAACT	0.413											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45931540	C	T	45931540	4	4	186	1	0	0	0	0	0	1	0	0	7578	644	23	1	539	1	IGFBP1	7	45931540	Nonsense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	25733143	45931540	113207123	45	97583											
RHBDD2	57414	broad.mit.edu	37	chr7	75517437	75517437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccctcctgcacccccGggcacatgcccaccttgcct	8	22	0	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:75517437G>A	uc003udw.1	+	4	949	c.865G>A	c.(865-867)GGG>AGG	p.G289R	RHBDD2_uc003udv.1_Missense_Mutation_p.G148R	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	289						integral to membrane	serine-type endopeptidase activity				0						CTGCACCCCCGGGCACATGCC	0.652													A	75517437	G	A	75517437	3	1	186	1	0	0	0	0	1	0	0	0	13317	1116	39	1	879	1	RHBDD2	7	75517437	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	29585897	75517437	83621226	46	97584											
PCLO	27445	broad.mit.edu	37	chr7	82584541	82584541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcagcactttttaacgCcttttggctaccttctttct	4	14	3	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:82584541C>A	uc003uhx.2	-	5	6017	c.5728G>T	c.(5728-5730)GCG>TCG	p.A1910S	PCLO_uc003uhv.2_Missense_Mutation_p.A1910S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1841					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTTTTAACGCCTTTTGGCTA	0.343													A	82584541	C	A	82584541	3	1	186	1	0	0	0	0	1	0	0	0	11583	739	26	5	9801	5	PCLO	7	82584541	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	7067104	82584541	76554122	47	97585											
PCLO	27445	broad.mit.edu	37	chr7	82784814	82784814	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggctgctccgatgaAggcttctctgacccagtctg	12	14	2	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:82784814A>C	uc003uhx.2	-	2	1432	c.1143T>G	c.(1141-1143)CCT>CCG	p.P381P	PCLO_uc003uhv.2_Silent_p.P381P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	341	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCTCCGATGAAGGCTTCTCTG	0.597													C	82784814	A	C	82784814	2	2	186	1	0	0	0	0	0	0	0	1	11583	59	3	5		5	PCLO	7	82784814	Silent	SNP	A	TCGA-CG-5718-01A-11D-1600-08	200273	82784814	76353849	48	97586											
LMTK2	22853	broad.mit.edu	37	chr7	97800978	97800978	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatgcacaagctgcacttCctgcacaggtgggtacctgc	11	14	0	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:97800978C>T	uc003upd.1	+	7	1076	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	261	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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					AGCTGCACTTCCTGCACAGGT	0.657													T	97800978	C	T	97800978	2	4	186	1	0	0	0	0	0	0	0	1	8859	854	30	4		4	LMTK2	7	97800978	Silent	SNP	C	TCGA-CG-5718-01A-11D-1600-08	15016164	97800978	61337685	49	97587											
RELN	5649	broad.mit.edu	37	chr7	103141292	103141292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctgcagttgtccaagCatccagggcccaggtagaaa	12	13	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr7:103141292C>A	uc003vca.2	-	53	8727	c.8567G>T	c.(8566-8568)TGC>TTC	p.C2856F	RELN_uc010liz.2_Missense_Mutation_p.C2856F	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2856	EGF-like 7.				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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTGTCCAAGCATCCAGGGCC	0.488													A	103141292	C	A	103141292	3	1	186	1	0	0	0	0	1	0	0	0	13220	710	25	5	1867	5	RELN	7	103141292	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	5340314	103141292	55997371	50	97588											
RHOBTB2	23221	broad.mit.edu	37	chr8	22874894	22874894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaagcggcagcccaaacGgcgttggctcttctggaaca	11	14	3	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr8:22874894G>A	uc003xcq.2	+	10	2633	c.2096G>A	c.(2095-2097)CGG>CAG	p.R699Q	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R721Q|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R706Q|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	699					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCCCAAACGGCGTTGGCTC	0.448													A	22874894	G	A	22874894	3	1	186	1	0	0	0	0	1	0	0	0	13334	1116	39	1	2215	1	RHOBTB2	8	22874894	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08		22874894	123489128	51	97589											
DMRT1	1761	broad.mit.edu	37	chr9	894128	894128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcccctcgggggatcccCtgtgaagaacagccttcggg	12	13	0	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr9:894128C>T	uc003zgv.2	+	3	904	c.755C>T	c.(754-756)CCT>CTT	p.P252L	DMRT1_uc003zgu.1_Missense_Mutation_p.P252L	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	252					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGGGGATCCCCTGTGAAGAAC	0.527											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	894128	C	T	894128	3	4	186	1	0	0	0	0	1	0	0	0	4585	681	24	4	765	4	DMRT1	9	894128	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		894128	140319303	52	97590											
WDR5	11091	broad.mit.edu	37	chr9	137007762	137007762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttgtgttcagtttgAcgaaagcgtgaggatatggg	13	5	2	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr9:137007762A>G	uc004cey.2	+	7	620	c.449A>G	c.(448-450)GAC>GGC	p.D150G	WDR5_uc004cez.2_Missense_Mutation_p.D150G	NM_017588	NP_060058	P61964	WDR5_HUMAN	WD repeat domain 5	150	WD 3.				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				0		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)		GTTCAGTTTGACGAAAGCGTG	0.507													G	137007762	A	G	137007762	3	3	186	1	0	0	0	0	1	0	0	0	17300	275	10	3	471	3	WDR5	9	137007762	Missense_Mutation	SNP	A	TCGA-CG-5718-01A-11D-1600-08	136113634	137007762	4205669	53	97591											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874724	24874724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagggttcttcagaaggCgtgctctcttttcctagtga	13	8	3	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr10:24874724C>T	uc001isb.2	-	26	4981	c.4494G>A	c.(4492-4494)ACG>ACA	p.T1498T	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1497					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						CTTCAGAAGGCGTGCTCTCTT	0.468													T	24874724	C	T	24874724	2	4	186	1	0	0	0	0	0	0	0	1	871	755	27	1		1	ARHGAP21	10	24874724	Silent	SNP	C	TCGA-CG-5718-01A-11D-1600-08		24874724	110660023	54	97592											
CNNM2	54805	broad.mit.edu	37	chr10	104809484	104809484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatctcacctggctatcGtgcagcgggtaaacaatgag	11	9	1	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr10:104809484G>A	uc001kwm.2	+	2	1766	c.1642G>A	c.(1642-1644)GTG>ATG	p.V548M	CNNM2_uc001kwn.2_Missense_Mutation_p.V548M	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	548	CBS 2.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		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)		CCTGGCTATCGTGCAGCGGGT	0.373													A	104809484	G	A	104809484	3	1	186	1	0	0	0	0	1	0	0	0	3613	1145	40	1	1690	1	CNNM2	10	104809484	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	79934760	104809484	30725263	55	97593											
ADD3	120	broad.mit.edu	37	chr10	111860438	111860438	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagatgccagccaaggcgtGattaccactcctcctcctcc	7	17	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr10:111860438G>A	uc001kyt.3	+	3	341	c.27G>A	c.(25-27)GTG>GTA	p.V9V	ADD3_uc001kys.3_Silent_p.V9V|ADD3_uc001kyu.2_Silent_p.V9V|ADD3_uc001kyv.2_Silent_p.V9V|ADD3_uc001kyw.2_Silent_p.V9V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	9						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		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)		GCCAAGGCGTGATTACCACTC	0.413													A	111860438	G	A	111860438	2	1	186	1	0	0	0	0	0	0	0	1	306	1277	45	4		4	ADD3	10	111860438	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	7050954	111860438	23674309	56	97594											
OR51D1	390038	broad.mit.edu	37	chr11	4661733	4661733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcatcctgtgggctgTtttggagctgtcctctcgga	11	11	2	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:4661733T>C	uc010qyk.1	+	1	713	c.713T>C	c.(712-714)GTT>GCT	p.V238A		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	238	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		CTGTGGGCTGTTTTGGAGCTG	0.512													C	4661733	T	C	4661733	3	2	186	1	0	0	0	0	1	0	0	0	11093	1725	60	3	715	3	OR51D1	11	4661733	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08		4661733	130344783	57	97595											
GALNTL4	374378	broad.mit.edu	37	chr11	11400736	11400736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcctgcttgctgtgaCgcacgactttgatgaagcct	11	12	0	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:11400736C>T	uc001mjo.2	-	4	1092	c.671G>A	c.(670-672)CGT>CAT	p.R224H		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	224	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CTTGCTGTGACGCACGACTTT	0.562													T	11400736	C	T	11400736	3	4	186	1	0	0	0	0	1	0	0	0	6223	536	19	1	1184	1	GALNTL4	11	11400736	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	6739003	11400736	123605780	58	97596											
MUC15	143662	broad.mit.edu	37	chr11	26586967	26586967	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagaccaagtgaagttttCtgaagacagagcaggtgtag	12	6	1	5			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:26586967C>T	uc001mqx.2	-	2	705	c.439G>A	c.(439-441)GAA>AAA	p.E147K	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.E174K|MUC15_uc001mqy.2_Missense_Mutation_p.E174K	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	147	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTGAAGTTTTCTGAAGACAGA	0.433													T	26586967	C	T	26586967	3	4	186	1	0	0	0	0	1	0	0	0	9972	922	32	4	577	4	MUC15	11	26586967	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	15186231	26586967	108419549	59	97597											
KCNA4	3739	broad.mit.edu	37	chr11	30033281	30033281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatggagattaagatgacCaggacggacacaatggctat	11	7	0	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:30033281C>T	uc001msk.2	-	2	2097	c.945G>A	c.(943-945)CTG>CTA	p.L315L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	315	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTAAGATGACCAGGACGGACA	0.517													T	30033281	C	T	30033281	2	4	186	1	0	0	0	0	0	0	0	1	8005	581	21	4		4	KCNA4	11	30033281	Silent	SNP	C	TCGA-CG-5718-01A-11D-1600-08	3446314	30033281	104973235	60	97598											
GDPD4	220032	broad.mit.edu	37	chr11	76956374	76956374	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacgcttactacttggcgGacaaatgtgtgtctgagagg	12	8	2	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr11:76956374G>A	uc001oyf.2	-	11	1289	c.1038C>T	c.(1036-1038)GTC>GTT	p.V346V		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	346	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						CTACTTGGCGGACAAATGTGT	0.428													A	76956374	G	A	76956374	2	1	186	1	0	0	0	0	0	0	0	1	6326	1161	41	4		4	GDPD4	11	76956374	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	46923093	76956374	58050142	61	97599											
A2M	2	broad.mit.edu	37	chr12	9222365	9222365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtaaatcaagacatgGttgctgctgacttctgtccg	10	9	3	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr12:9222365G>T	uc001qvk.1	-	33	4352	c.4239C>A	c.(4237-4239)AAC>AAA	p.N1413K	A2M_uc001qvj.1_Missense_Mutation_p.N455K|A2M_uc009zgk.1_Missense_Mutation_p.N1263K	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1413					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TCAAGACATGGTTGCTGCTGA	0.383													T	9222365	G	T	9222365	3	4	186	1	0	0	0	0	1	0	0	0	4	1252	44	5	201	5	A2M	12	9222365	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08		9222365	124629530	62	97600											
TMTC2	160335	broad.mit.edu	37	chr12	83526052	83526052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcagactccagaaggccGaggccaactacctgcgggcc	13	14	0	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr12:83526052G>A	uc001szt.2	+	12	2827	c.2395G>A	c.(2395-2397)GAG>AAG	p.E799K	TMTC2_uc010suk.1_Missense_Mutation_p.E554K	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	799	TPR 10.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CCAGAAGGCCGAGGCCAACTA	0.512													A	83526052	G	A	83526052	3	1	186	1	0	0	0	0	1	0	0	0	16258	1059	37	1	2441	1	TMTC2	12	83526052	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	74303687	83526052	50325843	63	97601											
RNASE4	6038	broad.mit.edu	37	chr14	21167713	21167713	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatgatgcaaagacggaaGatgactttgtatcactgcaa	10	6	1	5			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:21167713G>A	uc001vxy.3	+	2	746	c.183G>A	c.(181-183)AAG>AAA	p.K61K	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Silent_p.K61K	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	61					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AAAGACGGAAGATGACTTTGT	0.498													A	21167713	G	A	21167713	2	1	186	1	0	0	0	0	0	0	0	1	13406	933	33	4		4	RNASE4	14	21167713	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08		21167713	86181827	64	97602											
HECTD1	25831	broad.mit.edu	37	chr14	31598579	31598579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtaccctggtgcaagcTtgaggtcaaattttccttct	10	10	2	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:31598579T>C	uc001wrc.1	-	25	4487	c.3998A>G	c.(3997-3999)AAG>AGG	p.K1333R	HECTD1_uc001wrb.1_5'Flank|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1333	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		TGGTGCAAGCTTGAGGTCAAA	0.507													C	31598579	T	C	31598579	3	2	186	1	0	0	0	0	1	0	0	0	7039	1609	56	3	3910	3	HECTD1	14	31598579	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	10430866	31598579	75750961	65	97603											
FSCB	84075	broad.mit.edu	37	chr14	44975349	44975349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagcaggtctgggctccGctttagcagtggcctcttca	11	13	4	0	rs139581441	byFrequency	TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:44975349G>A	uc001wvn.2	-	1	1151	c.842C>T	c.(841-843)GCG>GTG	p.A281V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TCTGGGCTCCGCTTTAGCAGT	0.483													A	44975349	G	A	44975349	3	1	186	1	0	0	0	0	1	0	0	0	6066	1087	38	1	1639	1	FSCB	14	44975349	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	13376770	44975349	62374191	66	97604											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152300	72152300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctccagaaagagccgCcaacatccctcgaagcatct	7	17	1	2	rs144712845		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:72152300C>A	uc001xms.2	+	10	3674	c.3326C>A	c.(3325-3327)GCC>GAC	p.A1109D	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1109D|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1109D|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1109D|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A584D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1109					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAGAGCCGCCAACATCCCT	0.557													A	72152300	C	A	72152300	3	1	186	1	0	0	0	0	1	0	0	0	14329	739	26	5	3360	5	SIPA1L1	14	72152300	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	27176951	72152300	35197240	67	97605											
CDC42BPB	9578	broad.mit.edu	37	chr14	103434850	103434850	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacttatcttttaacatcaaGatttctttctgcagggccag	6	9	4	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr14:103434850G>A	uc001ymi.1	-	15	2431	c.2199C>T	c.(2197-2199)ATC>ATT	p.I733I		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	733	Potential.				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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTAACATCAAGATTTCTTTCT	0.438													A	103434850	G	A	103434850	2	1	186	1	0	0	0	0	0	0	0	1	3073	932	33	4		4	CDC42BPB	14	103434850	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	31282550	103434850	3914690	68	97606											
ATP10A	57194	broad.mit.edu	37	chr15	25963546	25963546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacctggccagacgctgcGctgcggggagagggcgcagg	20	11	0	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr15:25963546G>A	uc010ayu.2	-	8	1470	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	455	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CAGACGCTGCGCTGCGGGGAG	0.662													A	25963546	G	A	25963546	3	1	186	1	0	0	0	0	1	0	0	0	1116	1101	38	1	3191	1	ATP10A	15	25963546	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08		25963546	76567846	69	97607											
SGK269	79834	broad.mit.edu	37	chr15	77473569	77473569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacatcctcttcactctcctCgccactggaaaactctgggt	6	15	4	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr15:77473569C>T	uc002bcm.2	-	3	1008	c.700G>A	c.(700-702)GAG>AAG	p.E234K	SGK269_uc002bcn.2_Missense_Mutation_p.E234K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	234					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TCACTCTCCTCGCCACTGGAA	0.488													T	77473569	C	T	77473569	3	4	186	1	0	0	0	0	1	0	0	0	14211	893	31	1	4556	1	SGK269	15	77473569	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	51510023	77473569	25057823	70	97608											
SSTR5	6755	broad.mit.edu	37	chr16	1129842	1129842	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgtgcctccgcaagggctCtggtgccaaggacgctgacg	14	13	2	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr16:1129842C>T	uc002ckq.2	+	1	1062	c.974C>T	c.(973-975)TCT>TTT	p.S325F	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	325	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCAAGGGCTCTGGTGCCAAG	0.667													T	1129842	C	T	1129842	3	4	186	1	0	0	0	0	1	0	0	0	15200	913	32	4	976	4	SSTR5	16	1129842	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		1129842	89224911	71	97609											
MKL2	57496	broad.mit.edu	37	chr16	14345840	14345840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaatccagaaatgctcCgcttccatccctgcaaaatg	5	14	2	1	rs147357478		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr16:14345840C>T	uc010uza.1	+	14	2680	c.2525C>T	c.(2524-2526)CCG>CTG	p.P842L	MKL2_uc002dcg.2_Missense_Mutation_p.P792L|MKL2_uc002dcj.2_Missense_Mutation_p.P87L	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	831					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			ovary(3)|kidney(1)|pancreas(1)	5						AGAAATGCTCCGCTTCCATCC	0.488													T	14345840	C	T	14345840	3	4	186	1	0	0	0	0	1	0	0	0	9602	652	23	1	2421	1	MKL2	16	14345840	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	13215998	14345840	76008913	72	97610											
SMG1	23049	broad.mit.edu	37	chr16	18828719	18828719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagttcaaataacgccgcaTccaggtttaaggcttctgca	8	10	2	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr16:18828719T>C	uc002dfm.2	-	57	10331	c.9968A>G	c.(9967-9969)GAT>GGT	p.D3323G	SMG1_uc010bwb.2_Missense_Mutation_p.D3183G|SMG1_uc010bwa.2_Missense_Mutation_p.D2054G	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3323					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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TAACGCCGCATCCAGGTTTAA	0.398													C	18828719	T	C	18828719	3	2	186	1	0	0	0	0	1	0	0	0	14795	1435	50	3	1045	3	SMG1	16	18828719	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	4482879	18828719	71526034	73	97611											
TP53	7157	broad.mit.edu	37	chr17	7578556	7578556	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagggcaggggagtacTgtaggaagaggaaggagaca	19	3	0	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:7578556T>C	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(14)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		AGGGGAGTACTGTAGGAAGAG	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			C	7578556	T	C	7578556	5	2	186	1	0	0	0	0	0	0	1	0	16378	1594	55	3	924	3	TP53	17	7578556	Splice_Site	SNP	T	TCGA-CG-5718-01A-11D-1600-08		7578556	73616654	74	97612											
CHD3	1107	broad.mit.edu	37	chr17	7797156	7797156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggcggagtaagagcccccGagtgcctgatggacgcaaga	16	10	0	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:7797156G>A	uc002gje.2	+	6	977	c.827G>A	c.(826-828)CGA>CAA	p.R276Q	CHD3_uc002gjd.2_Missense_Mutation_p.R335Q|CHD3_uc002gjf.2_Missense_Mutation_p.R276Q|CHD3_uc002gjg.1_Missense_Mutation_p.R108Q	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	276					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(1)	1		Prostate(122;0.202)				AAGAGCCCCCGAGTGCCTGAT	0.527													A	7797156	G	A	7797156	3	1	186	1	0	0	0	0	1	0	0	0	3326	1058	37	1	1130	1	CHD3	17	7797156	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	218600	7797156	73398054	75	97613											
SSH2	85464	broad.mit.edu	37	chr17	27958032	27958032	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggcctccttcagaacTagtcaattcaagtcctgccc	9	13	3	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:27958032T>G	uc002heo.1	-	15	4099	c.4099A>C	c.(4099-4101)AGT>CGT	p.S1367R	SSH2_uc010wbh.1_Missense_Mutation_p.S1394R	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1367					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			skin(2)	2						CCTTCAGAACTAGTCAATTCA	0.577													G	27958032	T	G	27958032	3	3	186	1	0	0	0	0	1	0	0	0	15184	1522	53	5	176	5	SSH2	17	27958032	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	20160876	27958032	53237178	76	97614											
KCNJ2	3759	broad.mit.edu	37	chr17	68171975	68171975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtatatttctggtgtcCccaatcactatagtccatga	7	10	2	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:68171975C>T	uc010dfg.2	+	2	1196	c.795C>T	c.(793-795)TCC>TCT	p.S265S	KCNJ2_uc002jir.2_Silent_p.S265S	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	265	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					TTCTGGTGTCCCCAATCACTA	0.393													T	68171975	C	T	68171975	2	4	186	1	0	0	0	0	0	0	0	1	8051	610	22	4		4	KCNJ2	17	68171975	Silent	SNP	C	TCGA-CG-5718-01A-11D-1600-08	40213943	68171975	13023235	77	97615											
CASKIN2	57513	broad.mit.edu	37	chr17	73499201	73499201	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agctgggccttctccgttctCcagtccctcgatggccatca	9	16	3	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr17:73499201C>G	uc002joc.2	-	18	2504	c.1954G>C	c.(1954-1956)GAG>CAG	p.E652Q	CASKIN2_uc010wsc.1_Missense_Mutation_p.E570Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	652						cytoplasm				pancreas(1)	1	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)			TCTCCGTTCTCCAGTCCCTCG	0.711													G	73499201	C	G	73499201	3	3	186	1	0	0	0	0	1	0	0	0	2667	864	30	5	1666	5	CASKIN2	17	73499201	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	5327226	73499201	7696009	78	97616											
FAM38B	63895	broad.mit.edu	37	chr18	10681657	10681657	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactatagggatttacttaCggtgtccctagaaaaagctt	8	8	0	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr18:10681657C>T	uc002kor.3	-	9	1451	c.1311_splice	c.e9+1	p.T437_splice	FAM38B_uc002koq.2_Splice_Site_p.T272_splice	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B							integral to membrane	ion channel activity			ovary(1)	1						GATTTACTTACGGTGTCCCTA	0.418													T	10681657	C	T	10681657	5	4	186	1	0	0	0	0	0	0	1	0	5555	550	19	1	841	1	FAM38B	18	10681657	Splice_Site	SNP	C	TCGA-CG-5718-01A-11D-1600-08		10681657	67395591	79	97617											
MC5R	4161	broad.mit.edu	37	chr18	13825858	13825858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaaaaacaagtcttcaCcatgtgaagacatgggcatt	8	8	3	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr18:13825858C>A	uc010xaf.1	+	1	94	c.94C>A	c.(94-96)CCA>ACA	p.P32T		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	32	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						CAAGTCTTCACCATGTGAAGA	0.468													A	13825858	C	A	13825858	3	1	186	1	0	0	0	0	1	0	0	0	9367	507	18	5	96	5	MC5R	18	13825858	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	3144201	13825858	64251390	80	97618											
KIAA1632	57724	broad.mit.edu	37	chr18	43510778	43510778	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagacacttctcaaagTtggtaaaatgttctgggtct	9	6	3	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr18:43510778T>A	uc002lbm.2	-	12	2376	c.2276A>T	c.(2275-2277)AAC>ATC	p.N759I	KIAA1632_uc002lbo.1_Missense_Mutation_p.N759I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	759					autophagy						0						CTTCTCAAAGTTGGTAAAATG	0.368													A	43510778	T	A	43510778	3	1	186	1	0	0	0	0	1	0	0	0	8249	1725	60	5	5595	5	KIAA1632	18	43510778	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	29684920	43510778	34566470	81	97619											
MAP2K7	5609	broad.mit.edu	37	chr19	7977035	7977035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccttctcttgctctagcCttactaaagatcacaggaag	6	12	3	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:7977035C>T	uc002mit.2	+	10	1146	c.1081C>T	c.(1081-1083)CTT>TTT	p.L361F	MAP2K7_uc002miv.2_Missense_Mutation_p.L368F|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.L368F|MAP2K7_uc010dvv.2_Missense_Mutation_p.L236F	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	361	Protein kinase.				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	TTGCTCTAGCCTTACTAAAGA	0.607													T	7977035	C	T	7977035	3	4	186	1	0	0	0	0	1	0	0	0	9242	695	24	4	1119	4	MAP2K7	19	7977035	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		7977035	51151948	82	97620											
CD22	933	broad.mit.edu	37	chr19	35836516	35836516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccaggttagaagggcCcccctctctgaaggccccca	9	19	1	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:35836516C>T	uc010edt.2	+	12	2297	c.2220C>T	c.(2218-2220)GCC>GCT	p.A740A	CD22_uc010xst.1_Silent_p.A568A|CD22_uc010edu.2_Silent_p.A652A|CD22_uc010edv.2_Intron|CD22_uc002nzb.3_Silent_p.A563A|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	740	Cytoplasmic (Potential).				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	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)	TTAGAAGGGCCCCCCTCTCTG	0.582													T	35836516	C	T	35836516	2	4	186	1	0	0	0	0	0	0	0	1	2985	610	22	4		4	CD22	19	35836516	Silent	SNP	C	TCGA-CG-5718-01A-11D-1600-08	27859481	35836516	23292467	83	97621											
RYR1	6261	broad.mit.edu	37	chr19	38976765	38976765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcggtgcgcgacggtgggCagcacgctcgcgaccccgtc	17	15	0	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:38976765C>A	uc002oit.2	+	34	5600	c.5470C>A	c.(5470-5472)CAG>AAG	p.Q1824K	RYR1_uc002oiu.2_Missense_Mutation_p.Q1824K	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1824	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGACGGTGGGCAGCACGCTCG	0.697													A	38976765	C	A	38976765	3	1	186	1	0	0	0	0	1	0	0	0	13768	711	25	5	5604	5	RYR1	19	38976765	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	3140249	38976765	20152218	84	97622											
ZNF296	162979	broad.mit.edu	37	chr19	45575449	45575451	+	In_Frame_Del	DEL	TCT	TCT	-													gggcggcacctgccggtgggTcttcttgtggcggttgagct							TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:45575448_45575450GTCT>G	uc002pao.3	-	2	894_896	c.837_839AGAC>C	c.(835-840)aagacc>aaCc	p.279_280KT>N		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	279					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTGCCGGTGGGTCTTCTTGTGGC	0.68													-	45575451	TCT	-	45575449	7	5	186	1	0	1	0	1	0	0	0	0	17825	1667	58	0	593	0	ZNF296	19	45575449	In_Frame_Del	DEL	TCT	TCGA-CG-5718-01A-11D-1600-08	6598684	45575449	13553534	85	97623											
LILRA5	353514	broad.mit.edu	37	chr19	54818815	54818815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgagattctctactgcGtaatcctgaaggtgtgaggc	13	8	1	3			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:54818815G>A	uc002qfe.2	-	7	903	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y	LILRA5_uc002qff.2_Silent_p.Y249Y	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	261	Extracellular (Potential).				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCTACTGCGTAATCCTGAA	0.567													A	54818815	G	A	54818815	2	1	186	1	0	0	0	0	0	0	0	1	8788	1140	40	1		1	LILRA5	19	54818815	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	9243366	54818815	4310168	86	97624											
ZNF264	9422	broad.mit.edu	37	chr19	57724120	57724120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggccttcagtcgcagctCgtccctcactcagcatcaaa	7	15	4	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr19:57724120C>T	uc002qob.2	+	4	2068	c.1655C>T	c.(1654-1656)TCG>TTG	p.S552L		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	552	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		AGTCGCAGCTCGTCCCTCACT	0.463													T	57724120	C	T	57724120	3	4	186	1	0	0	0	0	1	0	0	0	17801	893	31	1	1669	1	ZNF264	19	57724120	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	2905305	57724120	1404863	87	97625											
MKKS	8195	broad.mit.edu	37	chr20	10389282	10389282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcattacctaccttcagCtcatcccaggcagtgtcatt	6	13	4	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr20:10389282C>T	uc002wnt.1	-	4	2042	c.1155G>A	c.(1153-1155)GAG>GAA	p.E385E	MKKS_uc002wnu.1_Silent_p.E385E|MKKS_uc010zrd.1_RNA	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	385					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				0						CTACCTTCAGCTCATCCCAGG	0.393									Bardet-Biedl_syndrome				T	10389282	C	T	10389282	2	4	186	1	0	0	0	0	0	0	0	1	9600	796	28	2		2	MKKS	20	10389282	Silent	SNP	C	TCGA-CG-5718-01A-11D-1600-08		10389282	52636238	88	97626											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506535	44506535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattaaagagagctcggccGgcaagcatgccactgaagtc	11	10	0	2			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr20:44506535G>A	uc002xqd.2	+	2	1541	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P	ZSWIM3_uc010zxg.1_Silent_p.P440P	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	446							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GAGCTCGGCCGGCAAGCATGC	0.507													A	44506535	G	A	44506535	2	1	186	1	0	0	0	0	0	0	0	1	18239	1103	39	1		1	ZSWIM3	20	44506535	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08	34117253	44506535	18518985	89	97627											
SYNJ1	8867	broad.mit.edu	37	chr21	34042633	34042633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagcattcaattctacCatttcttcaaaaccaattgc	2	12	4	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr21:34042633C>T	uc002yqh.2	-	15	1893	c.1893G>A	c.(1891-1893)ATG>ATA	p.M631I	SYNJ1_uc011ads.1_Missense_Mutation_p.M587I|SYNJ1_uc002yqf.2_Missense_Mutation_p.M592I|SYNJ1_uc002yqg.2_Missense_Mutation_p.M587I|SYNJ1_uc002yqi.2_Missense_Mutation_p.M631I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	592	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TCAATTCTACCATTTCTTCAA	0.343													T	34042633	C	T	34042633	3	4	186	1	0	0	0	0	1	0	0	0	15449	594	21	4	3042	4	SYNJ1	21	34042633	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		34042633	14087262	90	97628											
TTC3	7267	broad.mit.edu	37	chr21	38494156	38494156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctctttctatgctggggGaatatgactgggccctgcaa	12	9	2	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr21:38494156G>A	uc002yvz.2	+	12	1045	c.940G>A	c.(940-942)GAA>AAA	p.E314K	TTC3_uc011aee.1_Missense_Mutation_p.E4K|TTC3_uc002ywa.2_Missense_Mutation_p.E314K|TTC3_uc002ywb.2_Missense_Mutation_p.E314K|TTC3_uc010gnf.2_Missense_Mutation_p.E79K|TTC3_uc002ywc.2_Missense_Mutation_p.E4K|TTC3_uc011aed.1_Missense_Mutation_p.E4K|TTC3_uc010gne.1_Missense_Mutation_p.E314K	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	314					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				TATGCTGGGGGAATATGACTG	0.353													A	38494156	G	A	38494156	3	1	186	1	0	0	0	0	1	0	0	0	16694	1175	41	4	982	4	TTC3	21	38494156	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	4451523	38494156	9635739	91	97629											
RFPL2	10739	broad.mit.edu	37	chr22	32587233	32587233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggacacgtcaaatctctcGgcaaggtcttgccgattctg	10	12	4	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr22:32587233G>A	uc003amg.3	-	5	1599	c.663C>T	c.(661-663)GCC>GCT	p.A221A	RFPL2_uc003ame.3_Silent_p.A160A|RFPL2_uc003amf.3_Silent_p.A131A|RFPL2_uc003amh.3_Silent_p.A131A	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	221	B30.2/SPRY.						zinc ion binding			skin(1)	1						CAAATCTCTCGGCAAGGTCTT	0.577													A	32587233	G	A	32587233	2	1	186	1	0	0	0	0	0	0	0	1	13254	1103	39	1		1	RFPL2	22	32587233	Silent	SNP	G	TCGA-CG-5718-01A-11D-1600-08		32587233	18717333	92	97630											
TNRC6B	23112	broad.mit.edu	37	chr22	40711358	40711358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccactcatctctccaacAagatgtggaaaaaccatatt	4	13	2	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr22:40711358A>G	uc011aor.1	+	20	4961	c.4750A>G	c.(4750-4752)AAG>GAG	p.K1584E	TNRC6B_uc003aym.2_Missense_Mutation_p.K780E|TNRC6B_uc003ayn.3_Missense_Mutation_p.K1474E|TNRC6B_uc003ayo.2_Missense_Mutation_p.K1331E	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1584					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TCTCTCCAACAAGATGTGGAA	0.493													G	40711358	A	G	40711358	3	3	186	1	0	0	0	0	1	0	0	0	16338	131	5	3	4949	3	TNRC6B	22	40711358	Missense_Mutation	SNP	A	TCGA-CG-5718-01A-11D-1600-08	8124125	40711358	10593208	93	97631											
ATXN10	25814	broad.mit.edu	37	chr22	46125373	46125373	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcaccaaggatgacatccCtgtgtttttgcggcatgctg	10	11	1	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chr22:46125373C>G	uc003bgm.1	+	7	1054	c.797C>G	c.(796-798)CCT>CGT	p.P266R	ATXN10_uc011aqt.1_Missense_Mutation_p.P202R|ATXN10_uc003bgn.1_Missense_Mutation_p.P77R	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	266					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GATGACATCCCTGTGTTTTTG	0.458													G	46125373	C	G	46125373	3	3	186	1	0	0	0	0	1	0	0	0	1210	681	24	5	823	5	ATXN10	22	46125373	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	5414015	46125373	5179193	94	97632											
CNKSR2	22866	broad.mit.edu	37	chrX	21581449	21581449	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaggacacagggaagaagtCaaaaaagaagggtgataaga	13	3	1	4			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:21581449C>G	uc004czx.1	+	13	1523	c.1487C>G	c.(1486-1488)TCA>TGA	p.S496*	CNKSR2_uc004czw.2_Nonsense_Mutation_p.S496*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.S447*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.S466*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.S88*	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	496	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						GGGAAGAAGTCAAAAAAGAAG	0.383													G	21581449	C	G	21581449	4	3	186	1	0	0	0	0	0	1	0	0	3607	838	29	5	1537	5	CNKSR2	23	21581449	Nonsense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08		21581449	133689111	95	97633											
CCDC120	90060	broad.mit.edu	37	chrX	48920041	48920041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggtgaagtcagagcGtctgcgggggctgcttgacc	15	13	2	3	rs147084360		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:48920041G>A	uc010nik.2	+	4	599	c.92G>A	c.(91-93)CGT>CAT	p.R31H	CCDC120_uc011mmq.1_Missense_Mutation_p.R19H|CCDC120_uc004dmf.2_Missense_Mutation_p.R31H|CCDC120_uc010nil.2_Missense_Mutation_p.R31H|CCDC120_uc011mmr.1_Missense_Mutation_p.R31H|CCDC120_uc011mms.1_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	31							protein binding			pancreas(1)	1						AAGTCAGAGCGTCTGCGGGGG	0.647													A	48920041	G	A	48920041	3	1	186	1	0	0	0	0	1	0	0	0	2756	1145	40	1	98	1	CCDC120	23	48920041	Missense_Mutation	SNP	G	TCGA-CG-5718-01A-11D-1600-08	27338592	48920041	106350519	96	97634											
RHOXF1	158800	broad.mit.edu	37	chrX	119243203	119243203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcacgtagttcattggCgagcattaattctctctgat	9	9	4	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:119243203C>T	uc004esk.1	-	3	577	c.502G>A	c.(502-504)GCC>ACC	p.A168T	uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	168					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGTTCATTGGCGAGCATTAAT	0.448													T	119243203	C	T	119243203	3	4	186	1	0	0	0	0	1	0	0	0	13347	768	27	1	56	1	RHOXF1	23	119243203	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	70323162	119243203	36027357	97	97635											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685718	125685718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggatagtgcgctccCggctttccacaggtggaagt	13	12	0	0			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:125685718C>T	uc004eul.2	-	1	1125	c.874G>A	c.(874-876)GGG>AGG	p.G292R		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	292	WD 3.									skin(3)|ovary(1)	4						AGTGCGCTCCCGGCTTTCCAC	0.612													T	125685718	C	T	125685718	3	4	186	1	0	0	0	0	1	0	0	0	4264	652	23	1	521	1	DCAF12L1	23	125685718	Missense_Mutation	SNP	C	TCGA-CG-5718-01A-11D-1600-08	6442515	125685718	29584842	98	97636											
PLXNB3	5365	broad.mit.edu	37	chrX	153044076	153044076	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actacacttctgctccccacTgtctggaggctctgcaagaa	8	14	3	1			TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:153044076T>G	uc004fii.2	+	35	5746	c.5572T>G	c.(5572-5574)TGT>GGT	p.C1858G	PLXNB3_uc010nuk.2_Missense_Mutation_p.C1881G|PLXNB3_uc011mzd.1_Missense_Mutation_p.C1497G|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1858	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	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)					TGCTCCCCACTGTCTGGAGGC	0.627													G	153044076	T	G	153044076	3	3	186	1	0	0	0	0	1	0	0	0	12125	1580	55	5	5824	5	PLXNB3	23	153044076	Missense_Mutation	SNP	T	TCGA-CG-5718-01A-11D-1600-08	27358358	153044076	2226484	99	97637											
ATP6AP1	537	broad.mit.edu	37	chrX	153661991	153661991	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaccctcagatgaggtcatCgggcaggtcctgagcacact	12	12	2	4	rs146695597		TCGA-CG-5718-01A-11D-1600-08	TCGA-CG-5718-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6984870c-6068-43b9-963e-19c487be25fa	29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a	g.chrX:153661991C>A	uc004flf.1	+	6	670	c.609C>A	c.(607-609)ATC>ATA	p.I203I	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.I163I	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	203					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			ovary(3)|breast(1)	4	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)					ATGAGGTCATCGGGCAGGTCC	0.572													A	153661991	C	A	153661991	2	1	186	1	0	0	0	0	0	0	0	1	1165	874	31	5		5	ATP6AP1	23	153661991	Silent	SNP	C	TCGA-CG-5718-01A-11D-1600-08	617915	153661991	1608569	100	97638											
GPR153	387509	broad.mit.edu	37	chr1	6314708	6314708	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtgtagaaggtggacacGaagaccttgcagagaccctc	14	9	0	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:6314708G>A	uc001amp.1	-	2	518	c.258C>T	c.(256-258)TTC>TTT	p.F86F		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	86	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	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)		AGGTGGACACGAAGACCTTGC	0.607													A	6314708	G	A	6314708	2	1	187	1	0	0	0	0	0	0	0	1	6659	1049	37	1		1	GPR153	1	6314708	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08		6314708	242935913	1	97639											
MYOM3	127294	broad.mit.edu	37	chr1	24424487	24424487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtgtaagttgctgagTcctcaatggcgcatctgaaa	11	9	2	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:24424487T>C	uc001bin.3	-	7	834	c.671A>G	c.(670-672)GAC>GGC	p.D224G	MYOM3_uc001bim.3_5'Flank|MYOM3_uc001bio.2_Missense_Mutation_p.D224G|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	224	Ig-like C2-type 1.									skin(2)|ovary(1)	3		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)		AGTTGCTGAGTCCTCAATGGC	0.582													C	24424487	T	C	24424487	3	2	187	1	0	0	0	0	1	0	0	0	10093	1667	58	3	3766	3	MYOM3	1	24424487	Missense_Mutation	SNP	T	TCGA-CG-5719-01A-11D-1600-08	18109779	24424487	224826134	2	97640											
MFSD2A	84879	broad.mit.edu	37	chr1	40424370	40424370	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgcttctcctcattcCaggtgggccctttctctgcc	7	15	4	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:40424370C>T	uc001cev.2	+	3	446	c.265C>T	c.(265-267)CAG>TAG	p.Q89*	MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.2_Intron|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_Intron	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	89	Helical; (Potential).				transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CTCCTCATTCCAGGTGGGCCC	0.572													T	40424370	C	T	40424370	4	4	187	1	0	0	0	0	0	1	0	0	9530	595	21	4	275	4	MFSD2A	1	40424370	Nonsense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	15999883	40424370	208826251	3	97641											
TIE1	7075	broad.mit.edu	37	chr1	43772633	43772633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctggaagccagccccCtgggcagcgccttctttcgg	11	16	1	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:43772633C>T	uc001ciu.2	+	4	686	c.607C>T	c.(607-609)CTG>TTG	p.L203L	TIE1_uc010okd.1_Silent_p.L203L|TIE1_uc010oke.1_Silent_p.L158L|TIE1_uc009vwq.2_Silent_p.L203L|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010okb.1_Silent_p.L203L|TIE1_uc010okc.1_Silent_p.L203L	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	203	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCCAGCCCCCTGGGCAGCGC	0.632													T	43772633	C	T	43772633	2	4	187	1	0	0	0	0	0	0	0	1	15890	680	24	4		4	TIE1	1	43772633	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	3348263	43772633	205477988	4	97642											
C8A	731	broad.mit.edu	37	chr1	57349320	57349320	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcccactcacaagacacttCattcttgaacgaattaaaca	3	12	3	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:57349320C>A	uc001cyo.2	+	6	953	c.821C>A	c.(820-822)TCA>TAA	p.S274*		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	274	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						CAAGACACTTCATTCTTGAAC	0.403													A	57349320	C	A	57349320	4	1	187	1	0	0	0	0	0	1	0	0	2416	838	29	5	843	5	C8A	1	57349320	Nonsense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	13576687	57349320	191901301	5	97643											
NCSTN	23385	broad.mit.edu	37	chr1	160327004	160327004	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagccgctggaaagatatCcgtgcccggatatttctcat	11	10	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:160327004C>T	uc001fvx.2	+	16	2092	c.1968C>T	c.(1966-1968)ATC>ATT	p.I656I	NCSTN_uc001fvy.2_Silent_p.I636I|NCSTN_uc010pjf.1_Silent_p.I518I|NCSTN_uc001fvz.2_Silent_p.I436I|NCSTN_uc010pjg.1_Silent_p.I398I	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	656	Extracellular (Potential).				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			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAAGATATCCGTGCCCGGA	0.517													T	160327004	C	T	160327004	2	4	187	1	0	0	0	0	0	0	0	1	10241	845	30	4		4	NCSTN	1	160327004	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	102977684	160327004	88923617	6	97644											
PBX1	5087	broad.mit.edu	37	chr1	164761842	164761842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgagaagggcggagggtCggcggcagcggcggcagcgg	23	10	0	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:164761842C>T	uc001gct.2	+	3	635	c.377C>T	c.(376-378)TCG>TTG	p.S126L	PBX1_uc010pku.1_Missense_Mutation_p.S126L|PBX1_uc010pkv.1_Missense_Mutation_p.S43L|PBX1_uc001gcs.2_Missense_Mutation_p.S126L|PBX1_uc010pkw.1_Missense_Mutation_p.S16L	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	126					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)	soft_tissue(3)|lung(1)|skin(1)	5						GGCGGAGGGTcggcggcagcg	0.507			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								T	164761842	C	T	164761842	3	4	187	1	0	0	0	0	1	0	0	0	11492	893	31	1	387	1	PBX1	1	164761842	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	4434838	164761842	84488779	7	97645											
SLC9A11	284525	broad.mit.edu	37	chr1	173552664	173552664	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctaaaaatagaaaagtgGattctgttgccccgaaaatt	7	8	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:173552664G>A	uc001giz.2	-	6	1044	c.621C>T	c.(619-621)ATC>ATT	p.I207I	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	207					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TAGAAAAGTGGATTCTGTTGC	0.289													A	173552664	G	A	173552664	2	1	187	1	0	0	0	0	0	0	0	1	14711	1164	41	4		4	SLC9A11	1	173552664	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	8790822	173552664	75697957	8	97646											
KCNT2	343450	broad.mit.edu	37	chr1	196274444	196274444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttggcggggtgagttaGctctgtgataatactgagac	14	6	1	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:196274444G>A	uc001gtd.1	-	22	2575	c.2515C>T	c.(2515-2517)CTA>TTA	p.L839L	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.L765L|KCNT2_uc001gtf.1_Silent_p.L815L|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Silent_p.L815L|KCNT2_uc001gth.1_Silent_p.L336L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	839	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GGGTGAGTTAGCTCTGTGATA	0.353													A	196274444	G	A	196274444	2	1	187	1	0	0	0	0	0	0	0	1	8092	962	34	2		2	KCNT2	1	196274444	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	22721780	196274444	52976177	9	97647											
ESRRG	2104	broad.mit.edu	37	chr1	216741435	216741435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtactctgtcaagacGcacccctgtgagcaaagaca	8	14	2	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:216741435G>T	uc001hkw.1	-	4	761	c.595C>A	c.(595-597)CGT>AGT	p.R199S	ESRRG_uc001hky.1_Missense_Mutation_p.R176S|ESRRG_uc009xdp.1_Missense_Mutation_p.R176S|ESRRG_uc001hkz.1_Missense_Mutation_p.R137S|ESRRG_uc010puc.1_Missense_Mutation_p.R176S|ESRRG_uc001hla.1_Missense_Mutation_p.R176S|ESRRG_uc001hlb.1_Missense_Mutation_p.R176S|ESRRG_uc010pud.1_Missense_Mutation_p.R7S|ESRRG_uc001hlc.1_Missense_Mutation_p.R176S|ESRRG_uc001hld.1_Missense_Mutation_p.R176S|ESRRG_uc001hkx.1_Missense_Mutation_p.R204S|ESRRG_uc009xdo.1_Missense_Mutation_p.R176S|ESRRG_uc001hle.1_Missense_Mutation_p.R176S	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	199	Nuclear receptor.				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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTGTCAAGACGCACCCCTGTG	0.507													T	216741435	G	T	216741435	3	4	187	1	0	0	0	0	1	0	0	0	5262	1087	38	5	797	5	ESRRG	1	216741435	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	20466991	216741435	32509186	10	97648											
RYR2	6262	broad.mit.edu	37	chr1	237796936	237796936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctctgttacttctgtcGtataagtaggcagaatcaaa	7	7	3	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:237796936G>A	uc001hyl.1	+	43	6734	c.6614G>A	c.(6613-6615)CGT>CAT	p.R2205H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2205	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TACTTCTGTCGTATAAGTAGG	0.388													A	237796936	G	A	237796936	3	1	187	1	0	0	0	0	1	0	0	0	13769	1145	40	1	6784	1	RYR2	1	237796936	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	21055501	237796936	11453685	11	97649											
FMN2	56776	broad.mit.edu	37	chr1	240256750	240256750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggatcaagaggcggccGgaaccctccctgagccgagg	14	15	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:240256750G>A	uc010pyd.1	+	1	1566	c.1341G>A	c.(1339-1341)CCG>CCA	p.P447P	FMN2_uc010pye.1_Silent_p.P447P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	447					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAGGCGGCCGGAACCCTCCC	0.692													A	240256750	G	A	240256750	2	1	187	1	0	0	0	0	0	0	0	1	5950	1103	39	1		1	FMN2	1	240256750	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	2459814	240256750	8993871	12	97650											
SMYD3	64754	broad.mit.edu	37	chr1	246021942	246021942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaattgctgcttatgattGcctggcacatggccagaacc	10	11	0	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr1:246021942G>A	uc001ibl.2	-	10	1027	c.932C>T	c.(931-933)GCA>GTA	p.A311V	SMYD3_uc001ibk.2_Missense_Mutation_p.A252V|SMYD3_uc001ibi.2_Missense_Mutation_p.A122V|SMYD3_uc001ibj.2_Missense_Mutation_p.A122V	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	311						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GCTTATGATTGCCTGGCACAT	0.448													A	246021942	G	A	246021942	3	1	187	1	0	0	0	0	1	0	0	0	14823	1319	46	2	366	2	SMYD3	1	246021942	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	5765192	246021942	3228679	13	97651											
HECW2	57520	broad.mit.edu	37	chr2	197184379	197184379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcattgagtgaatcctgaCgtcctctgggaggtgaggtc	13	8	2	4			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr2:197184379C>T	uc002utm.1	-	9	1418	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	HECW2_uc002utl.1_Missense_Mutation_p.R56H	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	412					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TGAATCCTGACGTCCTCTGGG	0.527													T	197184379	C	T	197184379	3	4	187	1	0	0	0	0	1	0	0	0	7043	536	19	1	3567	1	HECW2	2	197184379	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08		197184379	46014994	14	97652											
NIF3L1	60491	broad.mit.edu	37	chr2	201756971	201756971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcttccgacccatgaagcGcataacctggaacacatgga	8	12	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr2:201756971G>A	uc002uwm.2	+	2	396	c.305G>A	c.(304-306)CGC>CAC	p.R102H	PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_Missense_Mutation_p.R75H|NIF3L1_uc002uwn.2_Missense_Mutation_p.R75H|NIF3L1_uc002uwo.2_Missense_Mutation_p.R102H|NIF3L1_uc002uwp.2_Missense_Mutation_p.R102H|NIF3L1_uc002uwq.2_Missense_Mutation_p.R102H	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	102					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						CCCATGAAGCGCATAACCTGG	0.547													A	201756971	G	A	201756971	3	1	187	1	0	0	0	0	1	0	0	0	10416	1087	38	1	307	1	NIF3L1	2	201756971	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	4572592	201756971	41442402	15	97653											
GRM7	2917	broad.mit.edu	37	chr3	7494338	7494338	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaactatgagcaggagggtAaagtccagttcgtgattgac	12	8	0	3	rs144288627		TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr3:7494338A>T	uc003bqm.2	+	6	1493	c.1219A>T	c.(1219-1221)AAA>TAA	p.K407*	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Nonsense_Mutation_p.K407*|GRM7_uc003bql.2_Nonsense_Mutation_p.K407*|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	407	Extracellular (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GCAGGAGGGTAAAGTCCAGTT	0.408													T	7494338	A	T	7494338	4	4	187	1	0	0	0	0	0	1	0	0	6802	363	13	5	1241	5	GRM7	3	7494338	Nonsense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08		7494338	190528092	16	97654											
DNAH1	25981	broad.mit.edu	37	chr3	52403955	52403955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggctcatgcccttcatcGagtgctggctgaggaagctg	15	10	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr3:52403955G>A	uc011bef.1	+	38	6319	c.6058G>A	c.(6058-6060)GAG>AAG	p.E2020K		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2020	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			large_intestine(3)	3				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)		GCCCTTCATCGAGTGCTGGCT	0.597													A	52403955	G	A	52403955	3	1	187	1	0	0	0	0	1	0	0	0	4597	1059	37	1	6204	1	DNAH1	3	52403955	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	44909617	52403955	145618475	17	97655											
EPHA6	285220	broad.mit.edu	37	chr3	96706450	96706450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaccagtatacaaagatcGacacaattgctgctgatgag	8	9	0	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr3:96706450G>A	uc010how.1	+	3	770	c.727G>A	c.(727-729)GAC>AAC	p.D243N	EPHA6_uc003drp.1_Missense_Mutation_p.D243N	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	148	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TACAAAGATCGACACAATTGC	0.413													A	96706450	G	A	96706450	3	1	187	1	0	0	0	0	1	0	0	0	5171	1058	37	1	737	1	EPHA6	3	96706450	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	44302495	96706450	101315980	18	97656											
CEP63	80254	broad.mit.edu	37	chr3	134256003	134256003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcctcctcaggaattcCgtcagaaatcgctggactgg	10	11	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr3:134256003C>T	uc003eqo.1	+	7	897	c.448C>T	c.(448-450)CGT>TGT	p.R150C	CEP63_uc003eql.1_Missense_Mutation_p.R150C|CEP63_uc003eqm.2_Missense_Mutation_p.R150C|CEP63_uc003eqn.1_Missense_Mutation_p.R150C	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	150	Potential.				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			ovary(1)	1						TCAGGAATTCCGTCAGAAATC	0.458													T	134256003	C	T	134256003	3	4	187	1	0	0	0	0	1	0	0	0	3257	652	23	1	466	1	CEP63	3	134256003	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	37549553	134256003	63766427	19	97657											
IGSF10	285313	broad.mit.edu	37	chr3	151171512	151171512	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagctcctgaggccataAaaagtatctttctgaagttt	8	8	3	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr3:151171512A>T	uc011bod.1	-	3	375	c.375T>A	c.(373-375)TTT>TTA	p.F125L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	125	LRR 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGAGGCCATAAAAAGTATCTT	0.353													T	151171512	A	T	151171512	3	4	187	1	0	0	0	0	1	0	0	0	7597	11	1	5	7560	5	IGSF10	3	151171512	Missense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08	16915509	151171512	46850918	20	97658											
P2RY1	5028	broad.mit.edu	37	chr3	152554282	152554282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgattctgggctgttaCggattaattgtgagagcttt	13	5	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr3:152554282C>T	uc003ezq.2	+	1	1547	c.711C>T	c.(709-711)TAC>TAT	p.Y237Y		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	237	Helical; Name=5; (Potential).				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			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGGCTGTTACGGATTAATTG	0.453													T	152554282	C	T	152554282	2	4	187	1	0	0	0	0	0	0	0	1	11346	547	19	1		1	P2RY1	3	152554282	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	1382770	152554282	45468148	21	97659											
SLIT2	9353	broad.mit.edu	37	chr4	20543118	20543118	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtaactgctacctggcTtggttgggagagtggctgag	15	7	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr4:20543118T>C	uc003gpr.1	+	20	2223	c.2019T>C	c.(2017-2019)GCT>GCC	p.A673A	SLIT2_uc003gps.1_Silent_p.A665A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	673	LRRCT 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			central_nervous_system(4)|skin(4)|ovary(3)	11						GCTACCTGGCTTGGTTGGGAG	0.458													C	20543118	T	C	20543118	2	2	187	1	0	0	0	0	0	0	0	1	14740	1596	56	3		3	SLIT2	4	20543118	Silent	SNP	T	TCGA-CG-5719-01A-11D-1600-08		20543118	170611158	22	97660											
SLIT2	9353	broad.mit.edu	37	chr4	20568884	20568884	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttttgaattaattttcaGgtcctgtggatgtcaatatt	7	4	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr4:20568884G>A	uc003gpr.1	+	27	2930	c.2726_splice	c.e27-1	p.G909_splice	SLIT2_uc003gps.1_Splice_Site_p.G901_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor						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			central_nervous_system(4)|skin(4)|ovary(3)	11						TTAATTTTCAGGTCCTGTGGA	0.323													A	20568884	G	A	20568884	5	1	187	1	0	0	0	0	0	0	1	0	14740	1014	35	4	2831	4	SLIT2	4	20568884	Splice_Site	SNP	G	TCGA-CG-5719-01A-11D-1600-08	25766	20568884	170585392	23	97661											
RBM47	54502	broad.mit.edu	37	chr4	40438457	40438457	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatctgcttcatactgaCctgtaccaggtttaatggca	7	11	3	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr4:40438457C>T	uc003gvc.2	-	5	2040	c.1330_splice	c.e5+1	p.V444_splice	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Splice_Site|RBM47_uc011bys.1_Splice_Site_p.V406_splice	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a							nucleus	nucleotide binding|RNA binding			breast(3)	3						TTCATACTGACCTGTACCAGG	0.453													T	40438457	C	T	40438457	5	4	187	1	0	0	0	0	0	0	1	0	13141	521	18	4	462	4	RBM47	4	40438457	Splice_Site	SNP	C	TCGA-CG-5719-01A-11D-1600-08	19869573	40438457	150715819	24	97662											
RASSF6	166824	broad.mit.edu	37	chr4	74447534	74447534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgatcaagctttcttacCtcctgttgcaaaaataatgt	7	8	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr4:74447534C>T	uc003hhd.1	-	8	940	c.817G>A	c.(817-819)GAA>AAA	p.E273K	RASSF6_uc003hhc.1_Missense_Mutation_p.E241K|RASSF6_uc010iik.1_Missense_Mutation_p.E207K|RASSF6_uc010iil.1_Missense_Mutation_p.E229K	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	273	Ras-associating.				apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCTTTCTTACCTCCTGTTGCA	0.383													T	74447534	C	T	74447534	3	4	187	1	0	0	0	0	1	0	0	0	13090	695	24	4	308	4	RASSF6	4	74447534	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	34009077	74447534	116706742	25	97663											
SHROOM3	57619	broad.mit.edu	37	chr4	77677626	77677626	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaaactttctaaagtgacAattgcaagggaaaggcacat	8	7	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr4:77677626A>T	uc011cbx.1	+	8	5687	c.4734A>T	c.(4732-4734)ACA>ACT	p.T1578T	SHROOM3_uc003hkg.2_Silent_p.T1356T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1578					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			skin(2)|ovary(1)	3			Lung(101;0.0903)			CTAAAGTGACAATTGCAAGGG	0.333													T	77677626	A	T	77677626	2	4	187	1	0	0	0	0	0	0	0	1	14295	117	5	5		5	SHROOM3	4	77677626	Silent	SNP	A	TCGA-CG-5719-01A-11D-1600-08	3230092	77677626	113476650	26	97664											
GRID2	2895	broad.mit.edu	37	chr4	94436497	94436497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtattcccaaatgtggCggatgatcaaccgaagcaat	10	9	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr4:94436497C>T	uc011cdt.1	+	13	2386	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	GRID2_uc011cdu.1_Missense_Mutation_p.R615W	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	710	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	CCAAATGTGGCGGATGATCAA	0.473													T	94436497	C	T	94436497	3	4	187	1	0	0	0	0	1	0	0	0	6772	759	27	1	2178	1	GRID2	4	94436497	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	16758871	94436497	96717779	27	97665											
FSTL5	56884	broad.mit.edu	37	chr4	162459360	162459360	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacaaaaagagaagagatgtCttcatccactcctgcttcat	6	11	3	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr4:162459360C>G	uc003iqh.2	-	10	1706	c.1270G>C	c.(1270-1272)GAC>CAC	p.D424H	FSTL5_uc003iqi.2_Missense_Mutation_p.D423H|FSTL5_uc010iqv.2_Missense_Mutation_p.D423H	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	424	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAAGAGATGTCTTCATCCACT	0.418													G	162459360	C	G	162459360	3	3	187	1	0	0	0	0	1	0	0	0	6080	913	32	5	1301	5	FSTL5	4	162459360	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	68022863	162459360	28694916	28	97666											
ERBB2IP	55914	broad.mit.edu	37	chr5	65288672	65288672	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagttccgaaagagattttTacttttgaaaaaaccttgga	7	6	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr5:65288672T>C	uc003juk.1	+	3	434	c.126T>C	c.(124-126)TTT>TTC	p.F42F	ERBB2IP_uc003juh.1_Silent_p.F42F|ERBB2IP_uc003jui.1_Silent_p.F42F|ERBB2IP_uc003juj.1_Silent_p.F42F|ERBB2IP_uc011cqx.1_Silent_p.F42F|ERBB2IP_uc011cqy.1_Silent_p.F42F|ERBB2IP_uc011cqz.1_Silent_p.F42F|ERBB2IP_uc010iwx.1_Silent_p.F42F|ERBB2IP_uc003jul.1_Silent_p.F42F	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	42	LRR 1.				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			ovary(3)|lung(2)|central_nervous_system(2)	7		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)		AAGAGATTTTTACTTTTGAAA	0.383													C	65288672	T	C	65288672	2	2	187	1	0	0	0	0	0	0	0	1	5207	1751	61	3		3	ERBB2IP	5	65288672	Silent	SNP	T	TCGA-CG-5719-01A-11D-1600-08		65288672	115626588	29	97667											
ERBB2IP	55914	broad.mit.edu	37	chr5	65342364	65342364	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttaaccatgatgatgtttttGaggtatgattttatgattat	8	2	0	5			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr5:65342364G>C	uc003juk.1	+	18	2094	c.1786G>C	c.(1786-1788)GAG>CAG	p.E596Q	ERBB2IP_uc003juh.1_Missense_Mutation_p.E592Q|ERBB2IP_uc003jui.1_Missense_Mutation_p.E596Q|ERBB2IP_uc003juj.1_Missense_Mutation_p.E596Q|ERBB2IP_uc011cqx.1_Missense_Mutation_p.E596Q|ERBB2IP_uc011cqy.1_Missense_Mutation_p.E596Q|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.E592Q|ERBB2IP_uc003jul.1_Missense_Mutation_p.E592Q	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	596					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			ovary(3)|lung(2)|central_nervous_system(2)	7		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)		TGATGTTTTTGAGGTATGATT	0.323													C	65342364	G	C	65342364	3	2	187	1	0	0	0	0	1	0	0	0	5207	1291	45	5	1848	5	ERBB2IP	5	65342364	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	53692	65342364	115572896	30	97668											
ZNF366	167465	broad.mit.edu	37	chr5	71757272	71757272	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagggggtcttcttcacagCcaagtcgaaatgcacatcct	11	11	3	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr5:71757272C>G	uc003kce.1	-	2	238	c.52G>C	c.(52-54)GCT>CCT	p.A18P		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTCTTCACAGCCAAGTCGAAA	0.512													G	71757272	C	G	71757272	3	3	187	1	0	0	0	0	1	0	0	0	17867	739	26	5	2198	5	ZNF366	5	71757272	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	6414908	71757272	109157988	31	97669											
CMYA5	202333	broad.mit.edu	37	chr5	79026269	79026269	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtggagcacaaagaagaaGagcttattctaccattattg	9	6	1	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr5:79026269G>T	uc003kgc.2	+	2	1753	c.1681G>T	c.(1681-1683)GAG>TAG	p.E561*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	561	Glu-rich.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		CAAAGAAGAAGAGCTTATTCT	0.438													T	79026269	G	T	79026269	4	4	187	1	0	0	0	0	0	1	0	0	3590	943	33	5	1687	5	CMYA5	5	79026269	Nonsense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	7268997	79026269	101888991	32	97670											
DOCK2	1794	broad.mit.edu	37	chr5	169129410	169129410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcatgtgtgtgtgcgcGgaggatggcaaaacgctgcc	15	9	2	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr5:169129410G>A	uc003maf.2	+	14	1442	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'Flank|DOCK2_uc010jjl.1_Silent_p.A5A	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	454	DHR-1.				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			ovary(5)|pancreas(2)	7	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)			GTGTGTGCGCGGAGGATGGCA	0.512											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	169129410	G	A	169129410	2	1	187	1	0	0	0	0	0	0	0	1	4687	1103	39	1		1	DOCK2	5	169129410	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	90103141	169129410	11785850	33	97671											
SLC22A23	63027	broad.mit.edu	37	chr6	3287186	3287186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaggaatcggaccaccaCgcacatggccaggcaggaca	12	15	0	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr6:3287186C>T	uc003mvm.3	-	7	1453	c.1453G>A	c.(1453-1455)GTG>ATG	p.V485M	uc003mvi.1_RNA|SLC22A23_uc003mvn.3_Missense_Mutation_p.V204M|SLC22A23_uc003mvo.3_Missense_Mutation_p.V204M|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.V485M|SLC22A23_uc003mvq.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	485	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGGACCACCACGCACATGGCC	0.632													T	3287186	C	T	3287186	3	4	187	1	0	0	0	0	1	0	0	0	14452	536	19	1	623	1	SLC22A23	6	3287186	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08		3287186	167827881	34	97672											
KIAA0319	9856	broad.mit.edu	37	chr6	24596282	24596282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcctgctgcgtctccGctggcaccgcaggactgtct	13	15	2	0	rs141114963		TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr6:24596282G>A	uc011djo.1	-	3	857	c.620C>T	c.(619-621)GCG>GTG	p.A207V	KIAA0319_uc011djp.1_Missense_Mutation_p.A162V|KIAA0319_uc003neh.1_Missense_Mutation_p.A207V|KIAA0319_uc011djq.1_Missense_Mutation_p.A198V|KIAA0319_uc011djr.1_Missense_Mutation_p.A207V	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	207	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						CTGCGTCTCCGCTGGCACCGC	0.622													A	24596282	G	A	24596282	3	1	187	1	0	0	0	0	1	0	0	0	8168	1087	38	1	2674	1	KIAA0319	6	24596282	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	21309096	24596282	146518785	35	97673											
SCUBE3	222663	broad.mit.edu	37	chr6	35205712	35205712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacgggggctgtgacaGtaagtgccatgatgcagcga	14	9	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr6:35205712G>A	uc003okf.1	+	7	752	c.746G>A	c.(745-747)AGT>AAT	p.S249N	SCUBE3_uc003okg.1_Missense_Mutation_p.S248N|SCUBE3_uc003okh.1_Missense_Mutation_p.S136N	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	249	EGF-like 6.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						GGCTGTGACAGTAAGTGCCAT	0.557													A	35205712	G	A	35205712	3	1	187	1	0	0	0	0	1	0	0	0	13946	1029	36	4	772	4	SCUBE3	6	35205712	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	10609430	35205712	135909355	36	97674											
TREML4	285852	broad.mit.edu	37	chr6	41196676	41196676	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcttcttcaacatcaccatGattcagctgacacagaatga	7	11	4	4			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr6:41196676G>A	uc003oqc.2	+	2	392	c.288G>A	c.(286-288)ATG>ATA	p.M96I	TREML4_uc003oqd.2_RNA	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid	96	Ig-like V-type.					extracellular region				breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACATCACCATGATTCAGCTGA	0.468													A	41196676	G	A	41196676	3	1	187	1	0	0	0	0	1	0	0	0	16471	1290	45	4	294	4	TREML4	6	41196676	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	5990964	41196676	129918391	37	97675											
LMBRD1	55788	broad.mit.edu	37	chr6	70459254	70459254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactaaaagaagcagtgcaCaaatcacaacaaatcccaaa	4	11	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr6:70459254C>A	uc003pfa.2	-	5	567	c.452G>T	c.(451-453)TGT>TTT	p.C151F	LMBRD1_uc003pez.2_Missense_Mutation_p.C78F|LMBRD1_uc010kal.2_Missense_Mutation_p.C78F|LMBRD1_uc003pfb.2_Intron	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	151	Helical; Name=4; (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						AAGCAGTGCACAAATCACAAC	0.284													A	70459254	C	A	70459254	3	1	187	1	0	0	0	0	1	0	0	0	8842	478	17	5	1218	5	LMBRD1	6	70459254	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	29262578	70459254	100655813	38	97676											
UTRN	7402	broad.mit.edu	37	chr6	145161925	145161925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccagcacggatctcacGgaggtcatggagcagattca	12	11	3	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr6:145161925G>A	uc003qkt.2	+	72	10319	c.10227G>A	c.(10225-10227)ACG>ACA	p.T3409T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3409					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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGGATCTCACGGAGGTCATGG	0.507													A	145161925	G	A	145161925	2	1	187	1	0	0	0	0	0	0	0	1	17100	1103	39	1		1	UTRN	6	145161925	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	74702671	145161925	25953142	39	97677											
ITGB8	3696	broad.mit.edu	37	chr7	20421359	20421359	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatttttaagagtcatatcGgatggcgaaaagaggctaaa	10	4	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr7:20421359G>C	uc003suu.2	+	6	1516	c.811G>C	c.(811-813)GGA>CGA	p.G271R	ITGB8_uc011jyh.1_Missense_Mutation_p.G136R|ITGB8_uc003sut.2_Missense_Mutation_p.G271R	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	271	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						GAGTCATATCGGATGGCGAAA	0.398													C	20421359	G	C	20421359	3	2	187	1	0	0	0	0	1	0	0	0	7901	1117	39	5	833	5	ITGB8	7	20421359	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08		20421359	138717304	40	97678											
GRM3	2913	broad.mit.edu	37	chr7	86416011	86416011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgggtggccagcgaCggctggggcgcgcaggagag	19	11	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr7:86416011C>T	uc003uid.2	+	3	2002	c.903C>T	c.(901-903)GAC>GAT	p.D301D	GRM3_uc010lef.2_Silent_p.D299D|GRM3_uc010leg.2_Silent_p.D173D|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	301	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGCCAGCGACGGCTGGGGCG	0.692													T	86416011	C	T	86416011	2	4	187	1	0	0	0	0	0	0	0	1	6798	535	19	1		1	GRM3	7	86416011	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	65994652	86416011	72722652	41	97679											
LRRC4	64101	broad.mit.edu	37	chr7	127670603	127670603	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcagcgatggctgcacacaGaatccacacttgcgccgtga	11	13	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr7:127670603G>C	uc003vmk.2	-	2	228	c.91C>G	c.(91-93)CTG>GTG	p.L31V	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	31						cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		GCTGCACACAGAATCCACACT	0.622													C	127670603	G	C	127670603	3	2	187	1	0	0	0	0	1	0	0	0	8997	933	33	5	1874	5	LRRC4	7	127670603	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	41254592	127670603	31468060	42	97680											
HR	55806	broad.mit.edu	37	chr8	21976480	21976480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatctggagaaagcggcGgatgcgctgggcgtcctgtg	16	11	1	1	rs148092652		TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr8:21976480G>A	uc003xas.2	-	16	3861	c.3196C>T	c.(3196-3198)CGC>TGC	p.R1066C	HR_uc003xat.2_Missense_Mutation_p.R1066C	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1066	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGAAAGCGGCGGATGCGCTGG	0.682													A	21976480	G	A	21976480	3	1	187	1	0	0	0	0	1	0	0	0	7347	1116	39	1	389	1	HR	8	21976480	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08		21976480	124387542	43	97681											
TG	7038	broad.mit.edu	37	chr8	133906030	133906030	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaacagttctcggttccctCtgggggagagtttcctggtg	13	11	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr8:133906030C>G	uc003ytw.2	+	11	2898	c.2857C>G	c.(2857-2859)CTG>GTG	p.L953V		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	953	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TCGGTTCCCTCTGGGGGAGAG	0.582													G	133906030	C	G	133906030	3	3	187	1	0	0	0	0	1	0	0	0	15810	912	32	5	2899	5	TG	8	133906030	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	111929550	133906030	12457992	44	97682											
KCNK9	51305	broad.mit.edu	37	chr8	140630631	140630632	+	Frame_Shift_Ins	INS	-	-	T													tgagatctcctcgatcttgtINSaagagatggagtggaagtag							TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr8:140630630_140630631G>GT	uc003yvf.1	-	1	1059_1060	c.995_996C>AC	c.(994-996)tacfs	p.Y332fs	KCNK9_uc003yvg.1_Frame_Shift_Ins_p.Y332fs|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	332						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)			CCTCGATCTTGTAAGAGATGGA	0.554													T	140630632	-	T	140630631	7	5	187	1	0	1	1	0	0	0	0	0	8072	1638	57	0	133	0	KCNK9	8	140630631	Frame_Shift_Ins	INS	-	TCGA-CG-5719-01A-11D-1600-08	6724601	140630631	5733391	45	97683											
VPS13A	23230	broad.mit.edu	37	chr9	79853016	79853016	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatgcaatgtcactttTccaaattacatttgagataa	7	6	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr9:79853016T>G	uc004akr.2	+	18	1954	c.1694T>G	c.(1693-1695)TTC>TGC	p.F565C	VPS13A_uc004akp.3_Missense_Mutation_p.F565C|VPS13A_uc004akq.3_Missense_Mutation_p.F565C|VPS13A_uc004aks.2_Missense_Mutation_p.F565C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	565	TPR 3.		F -> L.		Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATGTCACTTTTCCAAATTACA	0.333													G	79853016	T	G	79853016	3	3	187	1	0	0	0	0	1	0	0	0	17186	1783	62	5	1764	5	VPS13A	9	79853016	Missense_Mutation	SNP	T	TCGA-CG-5719-01A-11D-1600-08		79853016	61360415	46	97684											
NR5A1	2516	broad.mit.edu	37	chr9	127265456	127265456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctctggctctcggtgCacgtgtagtgcttgttgttc	13	10	2	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr9:127265456C>T	uc004boo.1	-	3	333	c.146G>A	c.(145-147)TGC>TAC	p.C49Y		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	49	NR C4-type.|Nuclear receptor.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						GCTCTCGGTGCACGTGTAGTG	0.647													T	127265456	C	T	127265456	3	4	187	1	0	0	0	0	1	0	0	0	10635	710	25	2	1259	2	NR5A1	9	127265456	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	47412440	127265456	13947975	47	97685											
ITIH5	80760	broad.mit.edu	37	chr10	7618701	7618701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggtgtccccctctccatCgcctccaggcctggggcttc	11	17	1	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr10:7618701C>T	uc001ijq.2	-	10	1772	c.1693G>A	c.(1693-1695)GAT>AAT	p.D565N	ITIH5_uc001ijp.2_Missense_Mutation_p.D351N|ITIH5_uc001ijr.1_Missense_Mutation_p.D565N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	565					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CCCTCTCCATCGCCTCCAGGC	0.567													T	7618701	C	T	7618701	3	4	187	1	0	0	0	0	1	0	0	0	7907	884	31	1	1278	1	ITIH5	10	7618701	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08		7618701	127916046	48	97686											
PCDH15	65217	broad.mit.edu	37	chr10	55755492	55755492	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatccctttgtatattcGtttactaaagacaggaggat	7	9	0	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr10:55755492G>A	uc001jju.1	-	21	3180	c.2785C>T	c.(2785-2787)CGA>TGA	p.R929*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R936*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.R929*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	929	Extracellular (Potential).|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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTATATTCGTTTACTAAAG	0.408										HNSCC(58;0.16)			A	55755492	G	A	55755492	4	1	187	1	0	0	0	0	0	1	0	0	11511	1153	40	1	4753	1	PCDH15	10	55755492	Nonsense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	48136791	55755492	79779255	49	97687											
KIAA1274	27143	broad.mit.edu	37	chr10	72285718	72285718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagactatgggtacaaCggccagcacagcccagcaga	12	13	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr10:72285718C>T	uc001jrd.3	+	2	292	c.11C>T	c.(10-12)ACG>ATG	p.T4M		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	4										ovary(2)|central_nervous_system(1)	3						ATGGGTACAACGGCCAGCACA	0.612													T	72285718	C	T	72285718	3	4	187	1	0	0	0	0	1	0	0	0	8220	536	19	1	13	1	KIAA1274	10	72285718	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	16530226	72285718	63249029	50	97688											
GBF1	8729	broad.mit.edu	37	chr10	104135332	104135332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagccagggcagatgcaCctgatgccggtaagcccttt	11	14	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr10:104135332C>T	uc001kux.1	+	30	4114	c.3874C>T	c.(3874-3876)CCT>TCT	p.P1292S	GBF1_uc001kuy.1_Missense_Mutation_p.P1292S|GBF1_uc001kuz.1_Missense_Mutation_p.P1293S	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1292					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGCAGATGCACCTGATGCCGG	0.562													T	104135332	C	T	104135332	3	4	187	1	0	0	0	0	1	0	0	0	6271	507	18	4	3988	4	GBF1	10	104135332	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	31849614	104135332	31399415	51	97689											
SORCS3	22986	broad.mit.edu	37	chr10	106927067	106927067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagactggggtggtgccctcGtggccatgaaacacacacct	12	12	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr10:106927067G>A	uc001kyi.1	+	13	2088	c.1861G>A	c.(1861-1863)GTG>ATG	p.V621M		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	621	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		TGGTGCCCTCGTGGCCATGAA	0.378													A	106927067	G	A	106927067	3	1	187	1	0	0	0	0	1	0	0	0	14932	1145	40	1	1911	1	SORCS3	10	106927067	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	2791735	106927067	28607680	52	97690											
C10orf90	118611	broad.mit.edu	37	chr10	128193340	128193340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcccacgcgtctggcCgtgatggtgatggatgcaaa	18	9	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr10:128193340C>T	uc001ljq.2	-	3	550	c.429G>A	c.(427-429)ACG>ACA	p.T143T	C10orf90_uc001ljp.2_Silent_p.T96T|C10orf90_uc010qum.1_Silent_p.T240T|C10orf90_uc009yao.2_Silent_p.T240T|C10orf90_uc001ljs.1_Silent_p.T96T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	143										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CGCGTCTGGCCGTGATGGTGA	0.687											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128193340	C	T	128193340	2	4	187	1	0	0	0	0	0	0	0	1	1623	639	23	1		1	C10orf90	10	128193340	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	21266273	128193340	7341407	53	97691											
MUC5B	727897	broad.mit.edu	37	chr11	1267092	1267092	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacgacctggatcctcacAgagcagaccacagcagccac	11	15	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:1267092A>G	uc009ycr.1	+	49	10857	c.10731A>G	c.(10729-10731)ACA>ACG	p.T3577T	MUC5B_uc001ltb.2_Silent_p.T2997T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2994	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GGATCCTCACAGAGCAGACCA	0.657													G	1267092	A	G	1267092	2	3	187	1	0	0	0	0	0	0	0	1	9979	175	7	3		3	MUC5B	11	1267092	Silent	SNP	A	TCGA-CG-5719-01A-11D-1600-08		1267092	133739424	54	97692											
MUC5B	727897	broad.mit.edu	37	chr11	1275540	1275540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacaagtccatggatatcGtcctcactgtcaccatggtg	8	12	2	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:1275540G>A	uc009ycr.1	+	56	16573	c.16447G>A	c.(16447-16449)GTC>ATC	p.V5483I	MUC5B_uc001ltb.2_Missense_Mutation_p.V5149I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5146	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CATGGATATCGTCCTCACTGT	0.657													A	1275540	G	A	1275540	3	1	187	1	0	0	0	0	1	0	0	0	9979	1145	40	1	15579	1	MUC5B	11	1275540	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	8448	1275540	133730976	55	97693											
BDNF	627	broad.mit.edu	37	chr11	27679474	27679474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtaagggcccgcacgtacGactgggtagttcggcactgg	16	10	0	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:27679474G>A	uc010rdu.1	-	2	1489	c.638C>T	c.(637-639)TCG>TTG	p.S213L	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.S213L|BDNF_uc001mrt.2_Missense_Mutation_p.S228L|BDNF_uc010rdw.1_Missense_Mutation_p.S213L|BDNF_uc009yjd.2_Missense_Mutation_p.S213L|BDNF_uc001mru.2_Missense_Mutation_p.S213L|BDNF_uc010rdx.1_Missense_Mutation_p.S213L|BDNF_uc010rdy.1_Missense_Mutation_p.S213L|BDNF_uc009yjg.2_Missense_Mutation_p.S213L|BDNF_uc009yje.2_Missense_Mutation_p.S295L|BDNF_uc009yjf.2_Missense_Mutation_p.S242L|BDNF_uc001mrv.2_Missense_Mutation_p.S213L|BDNF_uc001mrw.3_Missense_Mutation_p.S213L|BDNF_uc001mrx.2_Missense_Mutation_p.S213L|BDNF_uc001mry.3_Missense_Mutation_p.S213L|BDNF_uc001mrz.3_Missense_Mutation_p.S213L|BDNF_uc001msa.2_Missense_Mutation_p.S221L	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	213						extracellular region	growth factor activity				0						CCGCACGTACGACTGGGTAGT	0.473													A	27679474	G	A	27679474	3	1	187	1	0	0	0	0	1	0	0	0	1394	1059	37	1	109	1	BDNF	11	27679474	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	26403934	27679474	107327042	56	97694											
ATG2A	23130	broad.mit.edu	37	chr11	64673986	64673986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccaggtgactgggcagCgggtagtcatccacggccgc	16	12	1	1	rs75814919	by1000genomes	TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:64673986C>T	uc001obx.2	-	21	3118	c.3003G>A	c.(3001-3003)CCG>CCA	p.P1001P		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1001							protein binding			ovary(1)|central_nervous_system(1)	2						GACTGGGCAGCGGGTAGTCAT	0.677													T	64673986	C	T	64673986	2	4	187	1	0	0	0	0	0	0	0	1	1093	755	27	1		1	ATG2A	11	64673986	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	36994512	64673986	70332530	57	97695											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810465	65810465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgcgagctggcggcgCgcgcgttgagcttggcgtag	19	12	0	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:65810465C>T	uc001ogv.2	-	2	969	c.809G>A	c.(808-810)CGC>CAC	p.R270H	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R270H	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	270	Lumenal (Potential).				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			ovary(1)	1						GCTGGCGGCGCGCGCGTTGAG	0.582													T	65810465	C	T	65810465	3	4	187	1	0	0	0	0	1	0	0	0	6199	768	27	1	490	1	GAL3ST3	11	65810465	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	1136479	65810465	69196051	58	97696											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201943	67201943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcagcgagagtgccaaCcaggccttcctggtgagtgc	13	14	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:67201943C>T	uc001old.2	+	13	1225	c.1143C>T	c.(1141-1143)AAC>AAT	p.N381N	RPS6KB2_uc001olf.2_Silent_p.N181N|RPS6KB2_uc001olg.2_Silent_p.N381N|RPS6KB2_uc009yrq.2_Silent_p.N181N|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.N212N	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	381	AGC-kinase C-terminal.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGAGTGCCAACCAGGCCTTCC	0.637													T	67201943	C	T	67201943	2	4	187	1	0	0	0	0	0	0	0	1	13657	506	18	4		4	RPS6KB2	11	67201943	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	1391478	67201943	67804573	59	97697											
CABP4	57010	broad.mit.edu	37	chr11	67223662	67223662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactctccccctgcaggacCgcgaactgggccccgaggag	14	16	1	0	rs121917828	byFrequency	TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:67223662C>T	uc001olo.2	+	2	447	c.370C>T	c.(370-372)CGC>TGC	p.R124C	CABP4_uc001oln.2_Missense_Mutation_p.R19C	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	124			R -> C (in CSNB2B).		visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGCAGGACCGCGAACTGGG	0.677													T	67223662	C	T	67223662	3	4	187	1	0	0	0	0	1	0	0	0	2533	652	23	1	376	1	CABP4	11	67223662	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	21719	67223662	67782854	60	97698											
GAL	51083	broad.mit.edu	37	chr11	68456365	68456365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatatcatgcgcacaatcaTtgagtttctgtctttcttgc	6	10	5	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:68456365T>C	uc001oob.2	+	5	490	c.272T>C	c.(271-273)ATT>ACT	p.I91T		NM_015973	NP_057057	P22466	GALA_HUMAN	galanin preproprotein	91					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity				0	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CGCACAATCATTGAGTTTCTG	0.398													C	68456365	T	C	68456365	3	2	187	1	0	0	0	0	1	0	0	0	6196	1493	52	3	286	3	GAL	11	68456365	Missense_Mutation	SNP	T	TCGA-CG-5719-01A-11D-1600-08	1232703	68456365	66550151	61	97699											
C2CD2L	9854	broad.mit.edu	37	chr11	118986773	118986773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgagtttcctgcgcagcgGcactaagctcatcttccgcc	10	14	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr11:118986773G>A	uc001pvo.2	+	14	2287	c.1928G>A	c.(1927-1929)GGC>GAC	p.G643D	C2CD2L_uc001pvn.2_Missense_Mutation_p.G644D	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	643						integral to membrane					0						CTGCGCAGCGGCACTAAGCTC	0.632													A	118986773	G	A	118986773	3	1	187	1	0	0	0	0	1	0	0	0	2153	1203	42	2	1985	2	C2CD2L	11	118986773	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	50530408	118986773	16019743	62	97700											
KDM5A	5927	broad.mit.edu	37	chr12	498207	498207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaaagacggggcactcTggcggtggcacgaactccgc	15	13	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:498207T>C	uc001qif.1	-	1	414	c.51A>G	c.(49-51)CCA>CCG	p.P17P	KDM5A_uc001qie.1_Silent_p.P17P|CCDC77_uc009zdk.2_5'Flank|CCDC77_uc010sdp.1_5'Flank|KDM5A_uc010sdn.1_Silent_p.P17P|KDM5A_uc010sdo.1_Silent_p.P17P	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	17					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			skin(2)|ovary(1)	3						CGGGGCACTCTGGCGGTGGCA	0.677			T 	NUP98	AML								C	498207	T	C	498207	2	2	187	1	0	0	0	0	0	0	0	1	8133	1567	55	3		3	KDM5A	12	498207	Silent	SNP	T	TCGA-CG-5719-01A-11D-1600-08		498207	133353688	63	97701											
CD163L1	283316	broad.mit.edu	37	chr12	7551181	7551181	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taggtccagatctgccttatCtgcaagcaagacaaaaccac	7	12	2	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:7551181C>G	uc001qsy.2	-	7	1435	c.1409_splice	c.e7-1	p.D470_splice	CD163L1_uc010sge.1_Splice_Site_p.D480_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1							extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TCTGCCTTATCTGCAAGCAAG	0.448													G	7551181	C	G	7551181	5	3	187	1	0	0	0	0	0	0	1	0	2968	927	32	5	3005	5	CD163L1	12	7551181	Splice_Site	SNP	C	TCGA-CG-5719-01A-11D-1600-08	7052974	7551181	126300714	64	97702											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:25380275T>G	uc001rgp.1	-	3	364	c.183A>C	c.(181-183)CAA>CAC	p.Q61H	KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	61	GTP.		Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			G	25380275	T	G	25380275	3	3	187	1	0	0	0	0	1	0	0	0	8438	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-CG-5719-01A-11D-1600-08	17829094	25380275	108471620	65	97703											
OS9	10956	broad.mit.edu	37	chr12	58087953	58087953	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggaacgaaagatggcggcGgaaacgctgctgtccagttt	16	8	0	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:58087953G>C	uc001spj.2	+	1	68	c.9G>C	c.(7-9)GCG>GCC	p.A3A	OS9_uc010srx.1_Silent_p.A3A|OS9_uc001spk.2_Silent_p.A3A|OS9_uc001spl.2_Silent_p.A3A|OS9_uc001spm.2_Silent_p.A3A|OS9_uc001spn.2_Silent_p.A3A|OS9_uc010sry.1_Silent_p.A3A|OS9_uc010srz.1_Silent_p.A3A	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	3					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGATGGCGGCGGAAACGCTGC	0.577													C	58087953	G	C	58087953	2	2	187	1	0	0	0	0	0	0	0	1	11272	1103	39	5		5	OS9	12	58087953	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	32707678	58087953	75763942	66	97704											
LRRIQ1	84125	broad.mit.edu	37	chr12	85623340	85623340	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agataccactgcaaatgaaaAattagaacggaatagagaat	8	5	0	4			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:85623340A>C	uc001tac.2	+	25	4979	c.4868A>C	c.(4867-4869)AAA>ACA	p.K1623T		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1623										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GCAAATGAAAAATTAGAACGG	0.373													C	85623340	A	C	85623340	3	2	187	1	0	0	0	0	1	0	0	0	9029	14	1	5	4966	5	LRRIQ1	12	85623340	Missense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08	27535387	85623340	48228555	67	97705											
VEZT	55591	broad.mit.edu	37	chr12	95660360	95660360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactaacctcgtgagaaaagCtttacgtctcattcaagaaa	6	9	2	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:95660360C>T	uc001tdz.2	+	5	767	c.662C>T	c.(661-663)GCT>GTT	p.A221V	VEZT_uc009zsy.1_Missense_Mutation_p.A63V|VEZT_uc001tdr.2_Missense_Mutation_p.A63V|VEZT_uc001tds.2_Missense_Mutation_p.A173V|VEZT_uc001tdt.2_Missense_Mutation_p.A173V|VEZT_uc009zsz.1_Missense_Mutation_p.A221V|VEZT_uc001tdv.2_Missense_Mutation_p.A190V|VEZT_uc001tdw.1_Missense_Mutation_p.A173V|VEZT_uc009zta.1_Missense_Mutation_p.A173V	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	221						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						GTGAGAAAAGCTTTACGTCTC	0.353													T	95660360	C	T	95660360	3	4	187	1	0	0	0	0	1	0	0	0	17153	797	28	2	680	2	VEZT	12	95660360	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	10037020	95660360	38191535	68	97706											
HCFC2	29915	broad.mit.edu	37	chr12	104492124	104492124	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttctctgaaattagaaaGagactccttcaaatccagtg	6	8	2	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:104492124G>A	uc001tkj.3	+	13	1847	c.1744G>A	c.(1744-1746)GAG>AAG	p.E582K	HCFC2_uc009zul.2_RNA	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	582	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						AAATTAGAAAGAGACTCCTTC	0.338													A	104492124	G	A	104492124	3	1	187	1	0	0	0	0	1	0	0	0	6993	943	33	4	1794	4	HCFC2	12	104492124	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	8831764	104492124	29359771	69	97707											
CRY1	1407	broad.mit.edu	37	chr12	107386583	107386583	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctaattagtgctctgtctCtggactttaggaccaatact	7	10	2	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:107386583C>T	uc001tmi.3	-	12	2602	c.1743G>A	c.(1741-1743)CAG>CAA	p.Q581Q		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	581					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						TGCTCTGTCTCTGGACTTTAG	0.368													T	107386583	C	T	107386583	2	4	187	1	0	0	0	0	0	0	0	1	3903	912	32	4		4	CRY1	12	107386583	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	2894459	107386583	26465312	70	97708											
OAS3	4940	broad.mit.edu	37	chr12	113379501	113379501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatcctcagtgagatgCgggcatcgctggaatcctgg	14	10	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr12:113379501C>T	uc001tug.2	+	2	391	c.304C>T	c.(304-306)CGG>TGG	p.R102W	OAS3_uc001tue.2_Missense_Mutation_p.R102W|OAS3_uc001tuf.2_Missense_Mutation_p.R102W	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	102	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			central_nervous_system(1)	1						CAGTGAGATGCGGGCATCGCT	0.587													T	113379501	C	T	113379501	3	4	187	1	0	0	0	0	1	0	0	0	10801	759	27	1	310	1	OAS3	12	113379501	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	5992918	113379501	20472394	71	97709											
SACS	26278	broad.mit.edu	37	chr13	23928673	23928673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaccttggatattctgctGaggtaatataaatgacatct	7	8	2	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr13:23928673G>A	uc001uon.2	-	8	2667	c.2078C>T	c.(2077-2079)TCA>TTA	p.S693L	SACS_uc001uoo.2_Missense_Mutation_p.S546L|SACS_uc001uop.1_Missense_Mutation_p.S480L|SACS_uc001uoq.1_Missense_Mutation_p.S546L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	693					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		ATATTCTGCTGAGGTAATATA	0.468													A	23928673	G	A	23928673	3	1	187	1	0	0	0	0	1	0	0	0	13804	1294	45	4	11673	4	SACS	13	23928673	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08		23928673	91241205	72	97710											
ITGBL1	9358	broad.mit.edu	37	chr13	102231736	102231736	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccctgggaaagcaagCgaagatgcacgtctccagat	10	13	2	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr13:102231736C>T	uc001vpb.2	+	5	904	c.685C>T	c.(685-687)CGA>TGA	p.R229*	ITGBL1_uc010agb.2_Nonsense_Mutation_p.R180*|ITGBL1_uc001vpc.3_Nonsense_Mutation_p.R88*	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	229	Cysteine-rich tandem repeats.|IV.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAAAGCAAGCGAAGATGCAC	0.453													T	102231736	C	T	102231736	4	4	187	1	0	0	0	0	0	1	0	0	7902	760	27	1	703	1	ITGBL1	13	102231736	Nonsense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	78303063	102231736	12938142	73	97711											
SLC22A17	51310	broad.mit.edu	37	chr14	23817454	23817454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcagcacagactgagCctcctcaatctgccgcttca	7	16	4	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr14:23817454C>T	uc001wjl.2	-	5	810	c.754G>A	c.(754-756)GCT>ACT	p.A252T	SLC22A17_uc010akk.2_Missense_Mutation_p.A34T|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.A252T	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	252					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACAGACTGAGCCTCCTCAATC	0.642													T	23817454	C	T	23817454	3	4	187	1	0	0	0	0	1	0	0	0	14448	739	26	2	882	2	SLC22A17	14	23817454	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08		23817454	83532086	74	97712											
THTPA	79178	broad.mit.edu	37	chr14	24026387	24026387	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagctgatgaagaggagccaCagctcagggtggacttggat	16	7	1	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr14:24026387C>G	uc001wkh.3	+	2	791	c.421C>G	c.(421-423)CAG>GAG	p.Q141E	THTPA_uc001wkb.3_Intron|THTPA_uc001wkg.3_Missense_Mutation_p.Q141E|THTPA_uc010akr.2_Intron|THTPA_uc001wki.3_Intron	NM_001126339	NP_001119811	Q9BU02	THTPA_HUMAN	thiamine triphosphatase	141					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity				0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	AGAGGAGCCACAGCTCAGGGT	0.577													G	24026387	C	G	24026387	3	3	187	1	0	0	0	0	1	0	0	0	15878	479	17	5	423	5	THTPA	14	24026387	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	208933	24026387	83323153	75	97713											
REC8	9985	broad.mit.edu	37	chr14	24648871	24648871	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactccctgaggtgcccAtggagatgcctttggtgctg	13	11	0	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr14:24648871A>T	uc001wmr.2	+	19	1817	c.1390A>T	c.(1390-1392)ATG>TTG	p.M464L	REC8_uc001wms.2_Missense_Mutation_p.M464L	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	464	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		TGAGGTGCCCATGGAGATGCC	0.637													T	24648871	A	T	24648871	3	4	187	1	0	0	0	0	1	0	0	0	13199	217	8	5	1453	5	REC8	14	24648871	Missense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08	622484	24648871	82700669	76	97714											
PRKD1	5587	broad.mit.edu	37	chr14	30105555	30105555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcatctcgccactgtcGttctggcactctgccattgc	8	15	4	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr14:30105555G>A	uc001wqh.2	-	7	1312	c.1131C>T	c.(1129-1131)AAC>AAT	p.N377N		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	377					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCCACTGTCGTTCTGGCACT	0.542													A	30105555	G	A	30105555	2	1	187	1	0	0	0	0	0	0	0	1	12518	1136	40	1		1	PRKD1	14	30105555	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	5456684	30105555	77243985	77	97715											
LRFN5	145581	broad.mit.edu	37	chr14	42360992	42360992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcacttctgtgtcccaaaAgcagaaaagaaagactggca	9	9	1	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr14:42360992A>G	uc001wvm.2	+	4	3123	c.1925A>G	c.(1924-1926)AAG>AGG	p.K642R	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	642	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGTCCCAAAAGCAGAAAAGA	0.448										HNSCC(30;0.082)			G	42360992	A	G	42360992	3	3	187	1	0	0	0	0	1	0	0	0	8941	72	3	3	1931	3	LRFN5	14	42360992	Missense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08	12255437	42360992	64988548	78	97716											
ZFYVE26	23503	broad.mit.edu	37	chr14	68220880	68220880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcccagcactttcgcaccGatgcaagaacctggtcactt	9	14	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr14:68220880G>A	uc001xka.2	-	38	7175	c.7036C>T	c.(7036-7038)CGG>TGG	p.R2346W	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.R192W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2346					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTTCGCACCGATGCAAGAAC	0.517													A	68220880	G	A	68220880	3	1	187	1	0	0	0	0	1	0	0	0	17665	1057	37	1	603	1	ZFYVE26	14	68220880	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	25859888	68220880	39128660	79	97717											
GOLGA5	9950	broad.mit.edu	37	chr14	93273162	93273162	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcaaatgctgcctgccCtgaccacaccccaacaccta	5	18	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr14:93273162C>G	uc001yaz.1	+	3	808	c.626C>G	c.(625-627)CCT>CGT	p.P209R		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	209	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCTGCCTGCCCTGACCACACC	0.423			T	RET	papillary thyroid								G	93273162	C	G	93273162	3	3	187	1	0	0	0	0	1	0	0	0	6556	681	24	5	632	5	GOLGA5	14	93273162	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	25052282	93273162	14076378	80	97718											
IGDCC4	57722	broad.mit.edu	37	chr15	65687476	65687476	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtggaggtgcggctgGctcccagctgggagtaggcc	20	10	0	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr15:65687476G>C	uc002aou.1	-	8	1742	c.1532C>G	c.(1531-1533)GCC>GGC	p.A511G	IGDCC4_uc002aot.1_Missense_Mutation_p.A99G	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	511	Extracellular (Potential).|Fibronectin type-III 1.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GGTGCGGCTGGCTCCCAGCTG	0.572													C	65687476	G	C	65687476	3	2	187	1	0	0	0	0	1	0	0	0	7569	1203	42	5	2272	5	IGDCC4	15	65687476	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08		65687476	36843916	81	97719											
UACA	55075	broad.mit.edu	37	chr15	70980090	70980090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacataaactaacttactAcatctttggcattcacagag	4	9	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr15:70980090A>G	uc002asr.2	-	6	598	c.494T>C	c.(493-495)GTA>GCA	p.V165A	UACA_uc010uke.1_Missense_Mutation_p.V165A|UACA_uc002asq.2_Missense_Mutation_p.V152A|UACA_uc010bin.1_Missense_Mutation_p.V151A	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	165						cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						CTAACTTACTACATCTTTGGC	0.363													G	70980090	A	G	70980090	3	3	187	1	0	0	0	0	1	0	0	0	16821	405	14	3	3812	3	UACA	15	70980090	Missense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08	5292614	70980090	31551302	82	97720											
CHRNB4	1143	broad.mit.edu	37	chr15	78917483	78917483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggggccctcagtcacGctgggcagcgtagggcccct	15	16	2	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr15:78917483G>A	uc002bed.1	-	6	1601	c.1489C>T	c.(1489-1491)CGT>TGT	p.R497C	CHRNB4_uc002bee.1_Silent_p.S170S|uc002bef.1_5'Flank	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	497	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						CCTCAGTCACGCTGGGCAGCG	0.617													A	78917483	G	A	78917483	3	1	187	1	0	0	0	0	1	0	0	0	3393	1087	38	1	11	1	CHRNB4	15	78917483	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	7937393	78917483	23613909	83	97721											
GPRC5B	51704	broad.mit.edu	37	chr16	19883643	19883643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagccactccacagcgatGatgacttgcaccagcatcag	8	15	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr16:19883643G>A	uc002dgt.2	-	2	633	c.525C>T	c.(523-525)ATC>ATT	p.I175I	GPRC5B_uc010vav.1_Silent_p.I201I	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	175	Helical; Name=4; (Potential).									lung(1)|breast(1)|skin(1)	3						CCACAGCGATGATGACTTGCA	0.672													A	19883643	G	A	19883643	2	1	187	1	0	0	0	0	0	0	0	1	6725	1280	45	4		4	GPRC5B	16	19883643	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08		19883643	70471110	84	97722											
PARD6A	50855	broad.mit.edu	37	chr16	67695846	67695846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaactctctgcagcggCgcaagaaagggctcttgctg	11	14	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr16:67695846C>T	uc002ett.2	+	3	428	c.337C>T	c.(337-339)CGC>TGC	p.R113C	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.R112C|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	113	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		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)		TCTGCAGCGGCGCAAGAAAGG	0.617													T	67695846	C	T	67695846	3	4	187	1	0	0	0	0	1	0	0	0	11445	768	27	1	347	1	PARD6A	16	67695846	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	47812203	67695846	22658907	85	97723											
PMFBP1	83449	broad.mit.edu	37	chr16	72158753	72158753	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctctttggctgccagcatCttgaggtcattctggtgttg	11	10	4	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr16:72158753C>G	uc002fcc.3	-	17	2689	c.2517G>C	c.(2515-2517)AAG>AAC	p.K839N	PMFBP1_uc002fcd.2_Missense_Mutation_p.K834N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.K689N|PMFBP1_uc010cgo.1_Missense_Mutation_p.K130N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	839	Potential.									ovary(2)	2		Ovarian(137;0.179)				CTGCCAGCATCTTGAGGTCAT	0.547											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	72158753	C	G	72158753	3	3	187	1	0	0	0	0	1	0	0	0	12134	912	32	5	601	5	PMFBP1	16	72158753	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	4462907	72158753	18196000	86	97724											
WDR16	146845	broad.mit.edu	37	chr17	9503472	9503472	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactaaactgctgacagatgTtgggcctgcgaaggacaaat	12	8	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr17:9503472T>A	uc002gly.2	+	6	794	c.725T>A	c.(724-726)GTT>GAT	p.V242D	WDR16_uc002glz.2_Missense_Mutation_p.V174D|WDR16_uc010coc.2_Missense_Mutation_p.V252D	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	242						cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGACAGATGTTGGGCCTGCG	0.443													A	9503472	T	A	9503472	3	1	187	1	0	0	0	0	1	0	0	0	17273	1725	60	5	747	5	WDR16	17	9503472	Missense_Mutation	SNP	T	TCGA-CG-5719-01A-11D-1600-08		9503472	71691738	87	97725											
MYH8	4626	broad.mit.edu	37	chr17	10301947	10301947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagggcgtgtgccaggGcgttcttggcctgcagaagt	16	10	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr17:10301947G>A	uc002gmm.2	-	30	4087	c.3992C>T	c.(3991-3993)GCC>GTC	p.A1331V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1331	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GTGTGCCAGGGCGTTCTTGGC	0.527									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10301947	G	A	10301947	3	1	187	1	0	0	0	0	1	0	0	0	10041	1203	42	2	1865	2	MYH8	17	10301947	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	798475	10301947	70893263	88	97726											
DDX52	11056	broad.mit.edu	37	chr17	35993388	35993388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaacttttttgtcttcaAtctttgcttctacagatgac	5	9	5	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr17:35993388A>G	uc002hoi.1	-	3	385	c.347T>C	c.(346-348)ATT>ACT	p.I116T	DDX52_uc002hoh.1_Missense_Mutation_p.I8T|DDX52_uc002hoj.1_Missense_Mutation_p.I24T	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	116						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGTCTTCAATCTTTGCTTC	0.299													G	35993388	A	G	35993388	3	3	187	1	0	0	0	0	1	0	0	0	4370	101	4	3	1504	3	DDX52	17	35993388	Missense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08	25691441	35993388	45201822	89	97727											
ANKFN1	162282	broad.mit.edu	37	chr17	54428147	54428147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattgtcgtgtgaaaatgaCgcaacaaatgcaaaatttac	8	6	0	2	rs141896298	byFrequency	TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr17:54428147C>T	uc002iun.1	+	4	253	c.218C>T	c.(217-219)ACG>ATG	p.T73M		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	73										large_intestine(1)|ovary(1)	2						GTGAAAATGACGCAACAAATG	0.388													T	54428147	C	T	54428147	3	4	187	1	0	0	0	0	1	0	0	0	625	536	19	1	232	1	ANKFN1	17	54428147	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	18434759	54428147	26767063	90	97728											
PTPRM	5797	broad.mit.edu	37	chr18	8113650	8113650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctccaagctgcgcagCcttttacaattggtgataat	8	11	0	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr18:8113650C>T	uc002knn.3	+	12	2526	c.2023C>T	c.(2023-2025)CCT>TCT	p.P675S	PTPRM_uc010dkv.2_Missense_Mutation_p.P675S|PTPRM_uc010wzl.1_Missense_Mutation_p.P462S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	675	Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				AGCTGCGCAGCCTTTTACAAT	0.443													T	8113650	C	T	8113650	3	4	187	1	0	0	0	0	1	0	0	0	12806	739	26	2	2069	2	PTPRM	18	8113650	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08		8113650	69963598	91	97729											
SMAD4	4089	broad.mit.edu	37	chr18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccttctggaggagatcGcttttgtttgggtcaactct	12	9	3	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr18:48591919G>A	uc010xdp.1	+	9	1620	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	SMAD4_uc002lfb.3_Missense_Mutation_p.R206H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		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?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		GGAGGAGATCGCTTTTGTTTG	0.413									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				A	48591919	G	A	48591919	3	1	187	1	0	0	0	0	1	0	0	0	14760	1087	38	1	1112	1	SMAD4	18	48591919	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	40478269	48591919	29485329	92	97730											
ZNF358	140467	broad.mit.edu	37	chr19	7584405	7584405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccatgtcttcgagtttcGacctcgatccagatgtgatt	8	12	1	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:7584405G>A	uc002mgn.2	+	2	447	c.277G>A	c.(277-279)GAC>AAC	p.D93N		NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	93					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TTCGAGTTTCGACCTCGATCC	0.607													A	7584405	G	A	7584405	3	1	187	1	0	0	0	0	1	0	0	0	17864	1058	37	1	279	1	ZNF358	19	7584405	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08		7584405	51544578	93	97731											
MUC16	94025	broad.mit.edu	37	chr19	8959694	8959694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccttccttcttccgccGgcgggtggtcacctatgagg	11	14	3	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:8959694G>A	uc002mkp.2	-	84	43642	c.43438C>T	c.(43438-43440)CGG>TGG	p.R14480W	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R1280W|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	22125	Cytoplasmic (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCTTCCGCCGGCGGGTGGTC	0.582													A	8959694	G	A	8959694	3	1	187	1	0	0	0	0	1	0	0	0	9973	1115	39	1	89	1	MUC16	19	8959694	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	1375289	8959694	50169289	94	97732											
MUC16	94025	broad.mit.edu	37	chr19	9089844	9089844	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggacttgagccagcagccgtCttgctcactgctggagacac	12	13	2	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:9089844C>T	uc002mkp.2	-	1	2175	c.1971G>A	c.(1969-1971)AAG>AAA	p.K657K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	657	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGCAGCCGTCTTGCTCACTG	0.532													T	9089844	C	T	9089844	2	4	187	1	0	0	0	0	0	0	0	1	9973	912	32	4		4	MUC16	19	9089844	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	130150	9089844	50039139	95	97733											
RAB3A	5864	broad.mit.edu	37	chr19	18311172	18311172	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaaggattcctcgttggtGatgtcatacatgaggatgaa	12	5	1	4			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:18311172G>A	uc002nie.2	-	3	481	c.312C>T	c.(310-312)ATC>ATT	p.I104I		NM_002866	NP_002857	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	104					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				0						CCTCGTTGGTGATGTCATACA	0.433													A	18311172	G	A	18311172	2	1	187	1	0	0	0	0	0	0	0	1	12931	1280	45	4		4	RAB3A	19	18311172	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	9221328	18311172	40817811	96	97734											
HAPLN4	404037	broad.mit.edu	37	chr19	19369476	19369476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagggctcccggggccGgttcacggggtattgcactg	17	13	1	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:19369476G>A	uc002nmb.2	-	4	728	c.673C>T	c.(673-675)CGG>TGG	p.R225W	HAPLN4_uc002nmc.2_Missense_Mutation_p.R225W	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	225	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			TCCCGGGGCCGGTTCACGGGG	0.721													A	19369476	G	A	19369476	3	1	187	1	0	0	0	0	1	0	0	0	6957	1115	39	1	543	1	HAPLN4	19	19369476	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	1058304	19369476	39759507	97	97735											
CILP2	148113	broad.mit.edu	37	chr19	19656451	19656451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcgggattacctgaccCggcaccccccaccggtgccc	9	20	0	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:19656451C>T	uc002nmv.3	+	8	3182	c.3097C>T	c.(3097-3099)CGG>TGG	p.R1033W	CILP2_uc002nmw.3_Missense_Mutation_p.R1039W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1033						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TTACCTGACCCGGCACCCCCC	0.667													T	19656451	C	T	19656451	3	4	187	1	0	0	0	0	1	0	0	0	3430	643	23	1	3127	1	CILP2	19	19656451	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	286975	19656451	39472532	98	97736											
WDR62	284403	broad.mit.edu	37	chr19	36558857	36558857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttctgtgtgtcctactcggGcctcctctgccagttcaatg	9	14	3	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:36558857G>C	uc002odc.2	+	7	918	c.827G>C	c.(826-828)GGC>GCC	p.G276A	WDR62_uc002odd.2_Missense_Mutation_p.G276A|WDR62_uc002odb.2_Missense_Mutation_p.G276A	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	276					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCTACTCGGGCCTCCTCTGC	0.597													C	36558857	G	C	36558857	3	2	187	1	0	0	0	0	1	0	0	0	17310	1203	42	5	853	5	WDR62	19	36558857	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	16902406	36558857	22570126	99	97737											
CYP2A13	1553	broad.mit.edu	37	chr19	41600209	41600209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggcagcccaagtttgagGaccgggccaagatgccctac	12	14	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:41600209G>A	uc002opt.2	+	7	1042	c.1033G>A	c.(1033-1035)GAC>AAC	p.D345N		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	345					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	CAAGTTTGAGGACCGGGCCAA	0.557													A	41600209	G	A	41600209	3	1	187	1	0	0	0	0	1	0	0	0	4161	1174	41	4	1059	4	CYP2A13	19	41600209	Missense_Mutation	SNP	G	TCGA-CG-5719-01A-11D-1600-08	5041352	41600209	17528774	100	97738											
CD37	951	broad.mit.edu	37	chr19	49838857	49838858	+	In_Frame_Ins	INS	-	-	CTG													tcctcttcgttttcaacctcINSttcttcttcgtgagttgcct							TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:49838856_49838857T>TCTG	uc002pnd.3	+	0	180_181	c.59_60T>TCTG	c.(58-60)ctc>cTCTG	p.L20L	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_In_Frame_Ins_p.L20L|CD37_uc010yan.1_Intron|CD37_uc002pnf.3_Intron|CD37_uc002pne.3_Intron	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	20						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GTTTTCAACCTCTTCTTCTTCG	0.589													CTG	49838858	-	CTG	49838857	7	5	187	1	0	1	1	0	0	0	0	0	3008	900	32	0	62	0	CD37	19	49838857	In_Frame_Ins	INS	-	TCGA-CG-5719-01A-11D-1600-08	8238648	49838857	9290126	101	97739											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149117	52149117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgaggttggtgccatgGtcctcgggcctgggggtgag	20	8	0	2			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:52149117G>A	uc002pxf.3	-	3	738	c.618C>T	c.(616-618)GAC>GAT	p.D206D		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	206	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGTGCCATGGTCCTCGGGCC	0.637													A	52149117	G	A	52149117	2	1	187	1	0	0	0	0	0	0	0	1	14309	1252	44	4		4	SIGLEC14	19	52149117	Silent	SNP	G	TCGA-CG-5719-01A-11D-1600-08	2310260	52149117	6979866	102	97740											
NLRP4	147945	broad.mit.edu	37	chr19	56369621	56369621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtgcccgaaggagctcCgggatcaggtgacgatctca	14	12	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr19:56369621C>T	uc002qmd.3	+	3	1284	c.862C>T	c.(862-864)CGG>TGG	p.R288W	NLRP4_uc002qmf.2_Missense_Mutation_p.R213W|NLRP4_uc010etf.2_Missense_Mutation_p.R119W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	288	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGGAGCTCCGGGATCAGGT	0.547													T	56369621	C	T	56369621	3	4	187	1	0	0	0	0	1	0	0	0	10479	643	23	1	868	1	NLRP4	19	56369621	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08	4220504	56369621	2759362	103	97741											
TMC2	117532	broad.mit.edu	37	chr20	2597930	2597930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaccatcatgtccctccCaccctcctttgactgcgggc	6	19	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr20:2597930C>T	uc002wgf.1	+	16	2168	c.2153C>T	c.(2152-2154)CCA>CTA	p.P718L	TMC2_uc002wgg.1_Missense_Mutation_p.P702L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	718	Extracellular (Potential).					integral to membrane				ovary(3)	3						ATGTCCCTCCCACCCTCCTTT	0.622													T	2597930	C	T	2597930	3	4	187	1	0	0	0	0	1	0	0	0	15982	594	21	4	2215	4	TMC2	20	2597930	Missense_Mutation	SNP	C	TCGA-CG-5719-01A-11D-1600-08		2597930	60427590	104	97742											
C20orf29	55317	broad.mit.edu	37	chr20	3804851	3804851	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccgcattgagggcatcctCacccgcttcctgccacatgg	10	16	1	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr20:3804851C>T	uc002wjs.1	+	3	688	c.510C>T	c.(508-510)CTC>CTT	p.L170L	C20orf29_uc002wjt.2_Silent_p.L94L|C20orf29_uc002wju.1_Silent_p.L170L	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN	hypothetical protein LOC55317	170					double-strand break repair via homologous recombination		protein binding			skin(1)	1						AGGGCATCCTCACCCGCTTCC	0.637													T	3804851	C	T	3804851	2	4	187	1	0	0	0	0	0	0	0	1	2108	813	29	4		4	C20orf29	20	3804851	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	1206921	3804851	59220669	105	97743											
TPTE	7179	broad.mit.edu	37	chr21	10951401	10951401	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaggatgagagtgacatccAgtaagaccaggaaaactcca	10	9	0	3			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr21:10951401A>T	uc002yip.1	-	10	679	c.311T>A	c.(310-312)CTG>CAG	p.L104Q	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L86Q|TPTE_uc002yir.1_Missense_Mutation_p.L66Q|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	104	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		AGTGACATCCAGTAAGACCAG	0.318													T	10951401	A	T	10951401	3	4	187	1	0	0	0	0	1	0	0	0	16427	188	7	5	1404	5	TPTE	21	10951401	Missense_Mutation	SNP	A	TCGA-CG-5719-01A-11D-1600-08		10951401	37178494	106	97744											
PCNT	5116	broad.mit.edu	37	chr21	47786730	47786730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggctgcacgtgtggcCgaactgcagacaaaacacgc	12	13	0	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chr21:47786730C>T	uc002zji.3	+	15	2948	c.2841C>T	c.(2839-2841)GCC>GCT	p.A947A	PCNT_uc002zjj.2_Silent_p.A829A	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	947					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CACGTGTGGCCGAACTGCAGA	0.597													T	47786730	C	T	47786730	2	4	187	1	0	0	0	0	0	0	0	1	11590	639	23	1		1	PCNT	21	47786730	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	36835329	47786730	343165	107	97745											
TNMD	64102	broad.mit.edu	37	chrX	99854068	99854068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttcactttcctgccaaCgaaaaaaaagggattgaaca	7	9	2	1			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chrX:99854068C>T	uc004efy.3	+	6	859	c.633C>T	c.(631-633)AAC>AAT	p.N211N	TNMD_uc004efz.2_3'UTR	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	tenomodulin	211	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						TTCCTGCCAACGAAAAAAAAG	0.423													T	99854068	C	T	99854068	2	4	187	1	0	0	0	0	0	0	0	1	16319	535	19	1		1	TNMD	23	99854068	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08		99854068	55416492	108	97746											
ZIC3	7547	broad.mit.edu	37	chrX	136651179	136651179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatatctgcaaagtgtgCgacaagtcctacacgcaccc	7	15	1	0			TCGA-CG-5719-01A-11D-1600-08	TCGA-CG-5719-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d82ba1-5010-48c8-a0e8-36fc009f9b70	1e859428-ed63-4752-a140-7587e742a171	g.chrX:136651179C>T	uc004fak.2	+	2	1684	c.1179C>T	c.(1177-1179)TGC>TGT	p.C393C		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	393	C2H2-type 5.				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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCAAAGTGTGCGACAAGTCCT	0.532													T	136651179	C	T	136651179	2	4	187	1	0	0	0	0	0	0	0	1	17677	776	27	1		1	ZIC3	23	136651179	Silent	SNP	C	TCGA-CG-5719-01A-11D-1600-08	36797111	136651179	18619381	109	97747											
SPEN	23013	broad.mit.edu	37	chr1	16260606	16260606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattacctctgttattagccGgatgcctgtcagcattgacc	8	11	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:16260606G>A	uc001axk.1	+	11	8075	c.7871G>A	c.(7870-7872)CGG>CAG	p.R2624Q	SPEN_uc010obp.1_Missense_Mutation_p.R2583Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2624	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GTTATTAGCCGGATGCCTGTC	0.502													A	16260606	G	A	16260606	3	1	188	1	0	0	0	0	1	0	0	0	15037	1116	39	1	7913	1	SPEN	1	16260606	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08		16260606	232990015	1	97748											
USP48	84196	broad.mit.edu	37	chr1	22073598	22073598	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctccatatccaaaatttctGagaagccaatgtaggtattc	7	9	1	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:22073598G>C	uc001bfb.2	-	8	1191	c.953C>G	c.(952-954)TCA>TGA	p.S318*	USP48_uc010odq.1_Nonsense_Mutation_p.S318*|USP48_uc009vqc.2_Nonsense_Mutation_p.S318*|USP48_uc001bfc.2_Nonsense_Mutation_p.S318*|USP48_uc001bfe.1_Nonsense_Mutation_p.S318*|USP48_uc001bff.2_Nonsense_Mutation_p.S318*	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	318					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		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)		CAAAATTTCTGAGAAGCCAAT	0.323													C	22073598	G	C	22073598	4	2	188	1	0	0	0	0	0	1	0	0	17076	1294	45	5	2242	5	USP48	1	22073598	Nonsense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	5812992	22073598	227177023	2	97749											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40758340	40758340	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaaactatgaagcaacactGagatgtccaggatctgtgac	10	8	1	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:40758340G>C	uc001cfg.2	+	10	1638	c.1427G>C	c.(1426-1428)TGA>TCA	p.*476S		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	476						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	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)			AAGCAACACTGAGATGTCCAG	0.388													C	40758340	G	C	40758340	4	2	188	1	0	0	0	0	0	0	0	0	17695	1285	45	5	1465	5	ZMPSTE24	1	40758340	Nonstop_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	18684742	40758340	208492281	3	97750											
NASP	4678	broad.mit.edu	37	chr1	46082046	46082046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtttcactcctggtggagGaggctcttcagtctccatgg	13	10	4	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:46082046G>A	uc001coi.1	+	12	2162	c.2060G>A	c.(2059-2061)GGA>GAA	p.G687E	NASP_uc001coh.1_Missense_Mutation_p.G689E|NASP_uc001coj.1_Missense_Mutation_p.G348E|NASP_uc010olr.1_Missense_Mutation_p.G623E|NASP_uc001col.1_Missense_Mutation_p.G195E	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	687					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CCTGGTGGAGGAGGCTCTTCA	0.388													A	46082046	G	A	46082046	3	1	188	1	0	0	0	0	1	0	0	0	10172	1174	41	4	2183	4	NASP	1	46082046	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	5323706	46082046	203168575	4	97751											
C8B	732	broad.mit.edu	37	chr1	57415241	57415241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttacagtatgagagaatCgtttggttctcctaatatag	8	6	1	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:57415241C>T	uc001cyp.2	-	6	918	c.851G>A	c.(850-852)CGA>CAA	p.R284Q	C8B_uc010oon.1_Missense_Mutation_p.R222Q|C8B_uc010ooo.1_Missense_Mutation_p.R232Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	284	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ATGAGAGAATCGTTTGGTTCT	0.254													T	57415241	C	T	57415241	3	4	188	1	0	0	0	0	1	0	0	0	2417	884	31	1	952	1	C8B	1	57415241	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	11333195	57415241	191835380	5	97752											
GSTM3	2947	broad.mit.edu	37	chr1	110279764	110279764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagaactgatcagactGtaagtaggcagcgattttct	10	8	2	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:110279764G>T	uc001dyo.2	-	9	917	c.607C>A	c.(607-609)CAG>AAG	p.Q203K	GSTM3_uc001dyp.2_Missense_Mutation_p.Q200K	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	203	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGATCAGACTGTAAGTAGGCA	0.473													T	110279764	G	T	110279764	3	4	188	1	0	0	0	0	1	0	0	0	6839	1386	48	5	74	5	GSTM3	1	110279764	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	52864523	110279764	138970857	6	97753											
SV2A	9900	broad.mit.edu	37	chr1	149885391	149885391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcggaagccctcttccAtgatggggcttggggcactt	14	11	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:149885391A>G	uc001etg.2	-	2	493	c.2T>C	c.(1-3)ATG>ACG	p.M1T	SV2A_uc001eth.2_Missense_Mutation_p.M1T	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	1	Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	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)	GCCCTCTTCCATGATGGGGCT	0.537													G	149885391	A	G	149885391	3	3	188	1	0	0	0	0	1	0	0	0	15414	217	8	3	2274	3	SV2A	1	149885391	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	39605627	149885391	99365230	7	97754											
CD1C	911	broad.mit.edu	37	chr1	158262407	158262407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggccagaagcctggctgtCcagtcgccccagccttgggt	14	14	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:158262407C>T	uc001fru.2	+	4	924	c.632C>T	c.(631-633)TCC>TTC	p.S211F	CD1C_uc001frv.2_Missense_Mutation_p.S14F	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	211	Extracellular (Potential).|Ig-like.				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			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GCCTGGCTGTCCAGTCGCCCC	0.507													T	158262407	C	T	158262407	3	4	188	1	0	0	0	0	1	0	0	0	2976	855	30	4	646	4	CD1C	1	158262407	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	8377016	158262407	90988214	8	97755											
CRB1	23418	broad.mit.edu	37	chr1	197403842	197403842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttctctcattaggtattgCaaatgctgtttttaatggac	7	8	2	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:197403842C>A	uc001gtz.2	+	9	2984	c.2849C>A	c.(2848-2850)GCA>GAA	p.A950E	CRB1_uc010poz.1_Missense_Mutation_p.A926E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A838E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.A431E|CRB1_uc001gub.1_Missense_Mutation_p.A599E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	950	Extracellular (Potential).|EGF-like 14.|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TTAGGTATTGCAAATGCTGTT	0.294													A	197403842	C	A	197403842	3	1	188	1	0	0	0	0	1	0	0	0	3848	710	25	5	2883	5	CRB1	1	197403842	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	39141435	197403842	51846779	9	97756											
PTPRC	5788	broad.mit.edu	37	chr1	198725065	198725065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattcctatatgacgtcattGccagcacctaccctgctcag	6	14	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:198725065G>T	uc001gur.1	+	33	3850	c.3670G>T	c.(3670-3672)GCC>TCC	p.A1224S	PTPRC_uc001gus.1_Missense_Mutation_p.A1176S|PTPRC_uc001gut.1_Missense_Mutation_p.A1063S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1224	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TGACGTCATTGCCAGCACCTA	0.348													T	198725065	G	T	198725065	3	4	188	1	0	0	0	0	1	0	0	0	12797	1319	46	5	3807	5	PTPRC	1	198725065	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	1321223	198725065	50525556	10	97757											
MIA3	375056	broad.mit.edu	37	chr1	222802939	222802939	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggatagcgaaaaaacaagtGagactgctgccaaaggggtc	13	7	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:222802939G>A	uc001hnl.2	+	4	2386	c.2377G>A	c.(2377-2379)GAG>AAG	p.E793K	MIA3_uc009xea.1_Missense_Mutation_p.E629K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	793	Extracellular (Potential).				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			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AAAAACAAGTGAGACTGCTGC	0.443													A	222802939	G	A	222802939	3	1	188	1	0	0	0	0	1	0	0	0	9565	1291	45	4	2391	4	MIA3	1	222802939	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	24077874	222802939	26447682	11	97758											
ACTN2	88	broad.mit.edu	37	chr1	236906280	236906280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagattcggagactggagCgcttggaacacctggctgag	15	8	0	3	rs148189507		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:236906280C>T	uc001hyf.2	+	11	1396	c.1192C>T	c.(1192-1194)CGC>TGC	p.R398C	ACTN2_uc001hyg.2_Missense_Mutation_p.R190C|ACTN2_uc009xgi.1_Missense_Mutation_p.R398C|ACTN2_uc010pxu.1_Missense_Mutation_p.R87C|ACTN2_uc001hyh.2_Missense_Mutation_p.R86C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	398					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			ovary(4)|skin(1)	5	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)			GAGACTGGAGCGCTTGGAACA	0.522													T	236906280	C	T	236906280	3	4	188	1	0	0	0	0	1	0	0	0	205	768	27	1	1234	1	ACTN2	1	236906280	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	14103341	236906280	12344341	12	97759											
OR1C1	26188	broad.mit.edu	37	chr1	247921586	247921586	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcgcaatgatgagcatgttCcccaaggtggtggctaaata	12	8	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr1:247921586C>A	uc010pza.1	-	1	123	c.123G>T	c.(121-123)GGG>GGT	p.G41G		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			TGAGCATGTTCCCCAAGGTGG	0.483													A	247921586	C	A	247921586	2	1	188	1	0	0	0	0	0	0	0	1	10952	842	30	5		5	OR1C1	1	247921586	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	11015306	247921586	1329035	13	97760											
MYT1L	23040	broad.mit.edu	37	chr2	1805549	1805549	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttcttcatctaactgtttGatttcttcatcattttctat	2	8	7	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:1805549G>C	uc002qxe.2	-	23	4022	c.3195C>G	c.(3193-3195)ATC>ATG	p.I1065M	MYT1L_uc002qxd.2_Missense_Mutation_p.I1063M|MYT1L_uc010ewk.2_Missense_Mutation_p.I61M	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1065	Potential.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		CTAACTGTTTGATTTCTTCAT	0.308													C	1805549	G	C	1805549	3	2	188	1	0	0	0	0	1	0	0	0	10107	1280	45	5	377	5	MYT1L	2	1805549	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08		1805549	241393824	14	97761											
AGBL5	60509	broad.mit.edu	37	chr2	27279566	27279566	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccagggctgcaatttctcaGagaagaatatgtatgcccga	10	9	1	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:27279566G>C	uc002rie.2	+	8	1658	c.1441G>C	c.(1441-1443)GAG>CAG	p.E481Q	AGBL5_uc002rid.2_Missense_Mutation_p.E481Q|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	481					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATTTCTCAGAGAAGAATAT	0.483													C	27279566	G	C	27279566	3	2	188	1	0	0	0	0	1	0	0	0	378	943	33	5	1467	5	AGBL5	2	27279566	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	25474017	27279566	215919807	15	97762											
C2orf71	388939	broad.mit.edu	37	chr2	29295778	29295778	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacatggggtgcttgtcccCagcttcaaaggtggggaggt	15	9	2	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:29295778C>A	uc002rmt.1	-	1	1350	c.1350G>T	c.(1348-1350)CTG>CTT	p.L450L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	450					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TGCTTGTCCCCAGCTTCAAAG	0.537													A	29295778	C	A	29295778	2	1	188	1	0	0	0	0	0	0	0	1	2191	581	21	5		5	C2orf71	2	29295778	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	2016212	29295778	213903595	16	97763											
ARHGAP25	9938	broad.mit.edu	37	chr2	69053233	69053233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccgcaacatggagcgCtcccgggaggatgttgagaa	14	11	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:69053233C>T	uc002seu.2	+	11	2209	c.1845C>T	c.(1843-1845)CGC>CGT	p.R615R	ARHGAP25_uc010fdg.2_Silent_p.R616R|ARHGAP25_uc010yql.1_Silent_p.R576R|ARHGAP25_uc002sew.2_Silent_p.R608R|ARHGAP25_uc002sex.2_Silent_p.R609R|ARHGAP25_uc002sey.2_Silent_p.R342R	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	615	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E615D(1)		ovary(2)|breast(2)	4						ACATGGAGCGCTCCCGGGAGG	0.498													T	69053233	C	T	69053233	2	4	188	1	0	0	0	0	0	0	0	1	874	784	28	2		2	ARHGAP25	2	69053233	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	39757455	69053233	174146140	17	97764											
ACVR2A	92	broad.mit.edu	37	chr2	148680566	148680566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacccggaggtacatggctCcagaggtattagagggtgct	15	8	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:148680566C>T	uc002twg.2	+	10	1371	c.1102C>T	c.(1102-1104)CCA>TCA	p.P368S	ACVR2A_uc010zbn.1_Missense_Mutation_p.P260S|ACVR2A_uc002twh.2_Missense_Mutation_p.P368S	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	368	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTACATGGCTCCAGAGGTATT	0.393													T	148680566	C	T	148680566	3	4	188	1	0	0	0	0	1	0	0	0	223	855	30	4	1136	4	ACVR2A	2	148680566	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	79627333	148680566	94518807	18	97765											
TTN	7273	broad.mit.edu	37	chr2	179642243	179642243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgggtgtggcagggacaaTaattagtgattgagtaccat	13	5	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:179642243T>C	uc010zfg.1	-	26	4773	c.4549A>G	c.(4549-4551)ATT>GTT	p.I1517V	TTN_uc010zfh.1_Missense_Mutation_p.I1471V|TTN_uc010zfi.1_Missense_Mutation_p.I1471V|TTN_uc010zfj.1_Missense_Mutation_p.I1471V|TTN_uc002unb.2_Missense_Mutation_p.I1517V|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1517							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGGACAATAATTAGTGAT	0.388													C	179642243	T	C	179642243	3	2	188	1	0	0	0	0	1	0	0	0	16732	1406	49	3	106787	3	TTN	2	179642243	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	30961677	179642243	63557130	19	97766											
NCL	4691	broad.mit.edu	37	chr2	232326384	232326384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatcctcgtcctcGtcatcctcctcatcctcctc	2	21	4	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:232326384G>A	uc002vru.2	-	3	621	c.480C>T	c.(478-480)GAC>GAT	p.D160D	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	160	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		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)		cctcgtcctcgtcatcctcct	0.289													A	232326384	G	A	232326384	2	1	188	1	0	0	0	0	0	0	0	1	10226	1136	40	1		1	NCL	2	232326384	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08	52684141	232326384	10872989	20	97767											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516317	241516317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccctgctggactcgatgaaCgctgagatccgcatccgctg	11	14	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr2:241516317C>G	uc002vzi.2	+	10	1694	c.1101C>G	c.(1099-1101)AAC>AAG	p.N367K	RNPEPL1_uc010fzf.2_Missense_Mutation_p.N273K|RNPEPL1_uc002vzj.2_Missense_Mutation_p.N15K	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	367					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ACTCGATGAACGCTGAGATCC	0.642													G	241516317	C	G	241516317	3	3	188	1	0	0	0	0	1	0	0	0	13510	535	19	5	1131	5	RNPEPL1	2	241516317	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	9189933	241516317	1683056	21	97768											
SCN5A	6331	broad.mit.edu	37	chr3	38607902	38607902	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgggtgcccacactcacgtCtacgatgaggaagtcgagcc	12	13	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:38607902C>G	uc003cio.2	-	21	4032	c.3838G>C	c.(3838-3840)GAC>CAC	p.D1280H	SCN5A_uc003cin.2_Missense_Mutation_p.D1279H|SCN5A_uc003cil.3_Missense_Mutation_p.D1280H|SCN5A_uc010hhi.2_Missense_Mutation_p.D1280H|SCN5A_uc010hhk.2_Missense_Mutation_p.D1279H|SCN5A_uc011ayr.1_Missense_Mutation_p.D1226H|SCN5A_uc010hhj.1_Missense_Mutation_p.D890H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1280	Helical; Name=S3 of repeat III; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	ACACTCACGTCTACGATGAGG	0.587													G	38607902	C	G	38607902	3	3	188	1	0	0	0	0	1	0	0	0	13922	913	32	5	2244	5	SCN5A	3	38607902	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08		38607902	159414528	22	97769											
SCN5A	6331	broad.mit.edu	37	chr3	38628904	38628904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtaccaggcggaaggagCgcagcaccgacaagttgctc	14	12	0	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:38628904C>T	uc003cio.2	-	15	2617	c.2423G>A	c.(2422-2424)CGC>CAC	p.R808H	SCN5A_uc003cin.2_Missense_Mutation_p.R808H|SCN5A_uc003cil.3_Missense_Mutation_p.R808H|SCN5A_uc010hhi.2_Missense_Mutation_p.R808H|SCN5A_uc010hhk.2_Missense_Mutation_p.R808H|SCN5A_uc011ayr.1_Missense_Mutation_p.R808H|SCN5A_uc010hhj.1_Missense_Mutation_p.R419H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	808	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	GCGGAAGGAGCGCAGCACCGA	0.587													T	38628904	C	T	38628904	3	4	188	1	0	0	0	0	1	0	0	0	13922	768	27	1	3683	1	SCN5A	3	38628904	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	21002	38628904	159393526	23	97770											
WDR6	11180	broad.mit.edu	37	chr3	49051460	49051460	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccgcctcgcctgccaTgtcatgcacctttcgtccca	7	19	1	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:49051460T>A	uc003cvj.2	+	2	2721	c.2583T>A	c.(2581-2583)CAT>CAA	p.H861Q	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.H309Q|WDR6_uc010hkn.2_Missense_Mutation_p.H805Q|WDR6_uc011bbz.1_Missense_Mutation_p.H780Q	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	831					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				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)		TCGCCTGCCATGTCATGCACC	0.592											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49051460	T	A	49051460	3	1	188	1	0	0	0	0	1	0	0	0	17307	1461	51	5	2589	5	WDR6	3	49051460	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	10422556	49051460	148970970	24	97771											
RHOA	387	broad.mit.edu	37	chr3	49412898	49412898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatatctgccacaTagttctcaaacactgtgggc	7	14	2	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:49412898T>G	uc003cwu.2	-	2	401	c.125A>C	c.(124-126)TAT>TCT	p.Y42S	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				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			ovary(2)	2				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)	ATCTGCCACATAGTTCTCAAA	0.433													G	49412898	T	G	49412898	3	3	188	1	0	0	0	0	1	0	0	0	13331	1406	49	5	472	5	RHOA	3	49412898	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	361438	49412898	148609532	25	97772											
ROBO1	6091	broad.mit.edu	37	chr3	78683085	78683085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttggttcatcttacttacCagatgtactactgccccggt	7	12	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:78683085C>A	uc003dqe.2	-	24	3689	c.3481G>T	c.(3481-3483)GGG>TGG	p.G1161W	ROBO1_uc003dqb.2_Missense_Mutation_p.G1122W|ROBO1_uc003dqc.2_Missense_Mutation_p.G1061W|ROBO1_uc003dqd.2_Missense_Mutation_p.G1116W|ROBO1_uc010hoh.2_Missense_Mutation_p.G353W|ROBO1_uc011bgl.1_Missense_Mutation_p.G733W	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1161	Cytoplasmic (Potential).				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			large_intestine(2)	2		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)		TCTTACTTACCAGATGTACTA	0.428													A	78683085	C	A	78683085	3	1	188	1	0	0	0	0	1	0	0	0	13513	608	21	5	1506	5	ROBO1	3	78683085	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	29270187	78683085	119339345	26	97773											
CRYBG3	131544	broad.mit.edu	37	chr3	97652558	97652558	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttttgaagaaccctccatCagcctttttgctctggagca	8	11	2	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:97652558C>A	uc003drx.2	+	15	2482	c.2418C>A	c.(2416-2418)ATC>ATA	p.I806I	CRYBG3_uc010hoz.1_RNA	NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						AACCCTCCATCAGCCTTTTTG	0.468													A	97652558	C	A	97652558	2	1	188	1	0	0	0	0	0	0	0	1	3913	816	29	5		5	CRYBG3	3	97652558	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	18969473	97652558	100369872	27	97774											
CCDC14	64770	broad.mit.edu	37	chr3	123667796	123667796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattccattagggatgttcTttgaagtcaagtcattcatc	8	7	4	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:123667796T>C	uc011bjx.1	-	6	771	c.680A>G	c.(679-681)AAG>AGG	p.K227R	CCDC14_uc003egv.3_Missense_Mutation_p.K27R|CCDC14_uc003egx.3_Missense_Mutation_p.K27R|CCDC14_uc010hrt.2_Missense_Mutation_p.K186R|CCDC14_uc003egy.3_Missense_Mutation_p.K27R|CCDC14_uc003egz.2_Missense_Mutation_p.K27R	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	227						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGGGATGTTCTTTGAAGTCAA	0.403													C	123667796	T	C	123667796	3	2	188	1	0	0	0	0	1	0	0	0	2773	1609	56	3	2213	3	CCDC14	3	123667796	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	26015238	123667796	74354634	28	97775											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	188	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	55268295	178936091	19086339	29	97776											
SEC31A	22872	broad.mit.edu	37	chr4	83778855	83778855	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacttacccccactgacagaGatattaaatgttcctccaga	5	12	0	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr4:83778855G>A	uc003hnf.2	-	15	1853	c.1689C>T	c.(1687-1689)ATC>ATT	p.I563I	SEC31A_uc003hne.2_Silent_p.I296I|SEC31A_uc011ccl.1_Silent_p.I524I|SEC31A_uc003hnl.2_Silent_p.I524I|SEC31A_uc003hng.2_Silent_p.I563I|SEC31A_uc003hnh.2_Silent_p.I563I|SEC31A_uc003hni.2_Silent_p.I563I|SEC31A_uc003hnj.2_Silent_p.I524I|SEC31A_uc011ccm.1_Silent_p.I558I|SEC31A_uc011ccn.1_Silent_p.I563I|SEC31A_uc003hnk.2_Silent_p.I524I|SEC31A_uc003hnm.2_Silent_p.I563I|SEC31A_uc003hnn.1_Silent_p.I563I	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	563					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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				CACTGACAGAGATATTAAATG	0.308													A	83778855	G	A	83778855	2	1	188	1	0	0	0	0	0	0	0	1	13998	932	33	4		4	SEC31A	4	83778855	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08		83778855	107375421	30	97777											
MTTP	4547	broad.mit.edu	37	chr4	100522851	100522851	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcagaaagttgtgtcagAatgaaggctgcaaactcaaa	10	6	3	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr4:100522851A>C	uc003hvc.3	+	11	1580	c.1324A>C	c.(1324-1326)AAT>CAT	p.N442H	MTTP_uc011cej.1_Missense_Mutation_p.N469H	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	442	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GTTGTGTCAGAATGAAGGCTG	0.388													C	100522851	A	C	100522851	3	2	188	1	0	0	0	0	1	0	0	0	9964	246	9	5	1362	5	MTTP	4	100522851	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	16743996	100522851	90631425	31	97778											
ANK2	287	broad.mit.edu	37	chr4	114277913	114277913	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtacaattccagcctgtCgtttccaaacaatatacttt	5	10	0	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr4:114277913C>T	uc003ibe.3	+	38	8239	c.8139C>T	c.(8137-8139)GTC>GTT	p.V2713V	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.V15V|ANK2_uc011cgb.1_Silent_p.V2728V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2680					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGCCTGTCGTTTCCAAAC	0.423													T	114277913	C	T	114277913	2	4	188	1	0	0	0	0	0	0	0	1	621	871	31	1		1	ANK2	4	114277913	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	13755062	114277913	76876363	32	97779											
C4orf31	79625	broad.mit.edu	37	chr4	121957645	121957645	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attggttttgctctcttttcTtctggtcttcattgtagtta	7	7	5	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr4:121957645T>A	uc003idq.1	-	4	2008	c.1481A>T	c.(1480-1482)AAG>ATG	p.K494M		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	494	Fibronectin type-III 2.										0						CTCTCTTTTCTTCTGGTCTTC	0.423													A	121957645	T	A	121957645	3	1	188	1	0	0	0	0	1	0	0	0	2261	1609	56	5	229	5	C4orf31	4	121957645	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	7679732	121957645	69196631	33	97780											
FAT4	79633	broad.mit.edu	37	chr4	126373396	126373396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgccagctcacagctgaCaggcttagggactgctgtgc	12	12	1	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr4:126373396C>A	uc003ifj.3	+	9	11225	c.11225C>A	c.(11224-11226)ACA>AAA	p.T3742K	FAT4_uc011cgp.1_Missense_Mutation_p.T2040K|FAT4_uc003ifi.1_Missense_Mutation_p.T1220K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3742	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCACAGCTGACAGGCTTAGGG	0.433													A	126373396	C	A	126373396	3	1	188	1	0	0	0	0	1	0	0	0	5692	478	17	5	11259	5	FAT4	4	126373396	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	4415751	126373396	64780880	34	97781											
ODZ3	55714	broad.mit.edu	37	chr4	183675803	183675803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagaagaaaattaaccGgataaggcaggtcacaacag	11	6	1	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr4:183675803G>A	uc003ivd.1	+	21	4320	c.4283G>A	c.(4282-4284)CGG>CAG	p.R1428Q	ODZ3_uc003ive.1_Missense_Mutation_p.R841Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1428	Extracellular (Potential).|NHL 4.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAAATTAACCGGATAAGGCAG	0.473													A	183675803	G	A	183675803	3	1	188	1	0	0	0	0	1	0	0	0	10836	1116	39	1	4365	1	ODZ3	4	183675803	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	57302407	183675803	7478473	35	97782											
DNAH5	1767	broad.mit.edu	37	chr5	13919406	13919406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagtgctccagctccGctcgtggcccaacgtcatcc	8	17	1	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr5:13919406G>A	uc003jfd.2	-	7	896	c.854C>T	c.(853-855)GCG>GTG	p.A285V	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	285	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTCCAGCTCCGCTCGTGGCCC	0.532									Kartagener_syndrome				A	13919406	G	A	13919406	3	1	188	1	0	0	0	0	1	0	0	0	4604	1087	38	1	13312	1	DNAH5	5	13919406	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08		13919406	166995854	36	97783											
BHMT	635	broad.mit.edu	37	chr5	78417142	78417142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggcccagaaggagatttGcatggcgtgccccccggcga	14	12	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr5:78417142G>T	uc003kfu.3	+	5	684	c.579G>T	c.(577-579)TTG>TTT	p.L193F	BHMT_uc011cti.1_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	193	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AAGGAGATTTGCATGGCGTGC	0.478													T	78417142	G	T	78417142	3	4	188	1	0	0	0	0	1	0	0	0	1425	1310	46	5	597	5	BHMT	5	78417142	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	64497736	78417142	102498118	37	97784											
GPR98	84059	broad.mit.edu	37	chr5	89989834	89989834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caattcaaggggtgcctgacCcactttggagaacttggatg	12	9	1	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr5:89989834C>A	uc003kju.2	+	33	7357	c.7261C>A	c.(7261-7263)CCA>ACA	p.P2421T	GPR98_uc003kjt.2_Missense_Mutation_p.P127T|GPR98_uc003kjv.2_Missense_Mutation_p.P21T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2421	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		GGTGCCTGACCCACTTTGGAG	0.483													A	89989834	C	A	89989834	3	1	188	1	0	0	0	0	1	0	0	0	6721	623	22	5	7391	5	GPR98	5	89989834	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	11572692	89989834	90925426	38	97785											
FBN2	2201	broad.mit.edu	37	chr5	127673797	127673797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacaaaggagagggttacGttcacattcgtcaatgtctg	10	9	3	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr5:127673797G>A	uc003kuu.2	-	27	3929	c.3490C>T	c.(3490-3492)CGT>TGT	p.R1164C	FBN2_uc003kuv.2_Missense_Mutation_p.R1131C	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1164	EGF-like 17; 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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		AGAGGGTTACGTTCACATTCG	0.473													A	127673797	G	A	127673797	3	1	188	1	0	0	0	0	1	0	0	0	5703	1145	40	1	5404	1	FBN2	5	127673797	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	37683963	127673797	53241463	39	97786											
CTNNA1	1495	broad.mit.edu	37	chr5	138268343	138268343	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctactgccaccagctgaacaTctgcagcaaggtcaaggccg	10	14	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr5:138268343T>A	uc003ldh.2	+	17	2470	c.2375T>A	c.(2374-2376)ATC>AAC	p.I792N	CTNNA1_uc011cyx.1_Missense_Mutation_p.I689N|CTNNA1_uc011cyy.1_Missense_Mutation_p.I669N|CTNNA1_uc003ldi.2_Missense_Mutation_p.I490N|CTNNA1_uc003ldj.2_Missense_Mutation_p.I792N|CTNNA1_uc003ldl.2_Missense_Mutation_p.I422N	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	792					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGCTGAACATCTGCAGCAAG	0.582													A	138268343	T	A	138268343	3	1	188	1	0	0	0	0	1	0	0	0	4012	1435	50	5	2437	5	CTNNA1	5	138268343	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	10594546	138268343	42646917	40	97787											
PCDHB5	26167	broad.mit.edu	37	chr5	140517125	140517125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgctcttcctcttttcGgtgctcctgttcgtggcagt	10	13	2	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr5:140517125G>A	uc003liq.2	+	1	2326	c.2109G>A	c.(2107-2109)TCG>TCA	p.S703S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	703	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTTTCGGTGCTCCTGT	0.701													A	140517125	G	A	140517125	2	1	188	1	0	0	0	0	0	0	0	1	11545	1103	39	1		1	PCDHB5	5	140517125	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08	2248782	140517125	40398135	41	97788											
CDKAL1	54901	broad.mit.edu	37	chr6	20781484	20781484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccactgatagaaatcatttCcatcaataccgggtaagcat	6	10	2	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:20781484C>T	uc003ndc.1	+	8	800	c.626C>T	c.(625-627)TCC>TTC	p.S209F	CDKAL1_uc003ndd.1_Missense_Mutation_p.S209F|CDKAL1_uc003nde.1_Missense_Mutation_p.S139F	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	209					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	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)			GAAATCATTTCCATCAATACC	0.383													T	20781484	C	T	20781484	3	4	188	1	0	0	0	0	1	0	0	0	3152	855	30	4	648	4	CDKAL1	6	20781484	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08		20781484	150333583	42	97789											
PGBD1	84547	broad.mit.edu	37	chr6	28254891	28254891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagctcatctccaggaAaaaaaccccagagacaaggc	9	12	3	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:28254891A>C	uc003nky.2	+	4	958	c.588A>C	c.(586-588)GAA>GAC	p.E196D	PGBD1_uc003nkz.2_Missense_Mutation_p.E196D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	196					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						ATCTCCAGGAAAAAAACCCCA	0.502													C	28254891	A	C	28254891	3	2	188	1	0	0	0	0	1	0	0	0	11780	11	1	5	598	5	PGBD1	6	28254891	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	7473407	28254891	142860176	43	97790											
BAT1	7919	broad.mit.edu	37	chr6	31504336	31504336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttaatgtgtttgaggTtgaggctcttatttcgagcc	12	5	1	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:31504336T>C	uc003ntt.2	-	5	1188	c.557A>G	c.(556-558)AAC>AGC	p.N186S	BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.N186S|BAT1_uc011dnn.1_Missense_Mutation_p.N108S|BAT1_uc003ntu.2_Missense_Mutation_p.N186S|BAT1_uc003ntv.2_Missense_Mutation_p.N186S|BAT1_uc003ntw.2_Missense_Mutation_p.N186S|BAT1_uc003ntx.2_Missense_Mutation_p.N186S|BAT1_uc011dno.1_Missense_Mutation_p.N139S|BAT1_uc011dnp.1_Missense_Mutation_p.N108S|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	186	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0						GTGTTTGAGGTTGAGGCTCTT	0.493													C	31504336	T	C	31504336	3	2	188	1	0	0	0	0	1	0	0	0	1318	1725	60	3	757	3	BAT1	6	31504336	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	3249445	31504336	139610731	44	97791											
ELOVL5	60481	broad.mit.edu	37	chr6	53140993	53140993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaccttcatatctgattctCctgcggtgcgtgtgccctga	10	12	3	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:53140993C>T	uc003pbq.1	-	4	756	c.308G>A	c.(307-309)GGA>GAA	p.G103E	ELOVL5_uc003pbr.1_Missense_Mutation_p.G103E|ELOVL5_uc011dwx.1_Missense_Mutation_p.G130E|ELOVL5_uc003pbs.1_Missense_Mutation_p.G103E	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	103					fatty acid elongation, monounsaturated fatty acid|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				0	Lung NSC(77;0.116)					ATCTGATTCTCCTGCGGTGCG	0.353													T	53140993	C	T	53140993	3	4	188	1	0	0	0	0	1	0	0	0	5077	855	30	4	611	4	ELOVL5	6	53140993	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	21636657	53140993	117974074	45	97792											
PHF3	23469	broad.mit.edu	37	chr6	64395157	64395157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaagaaaattgttgcaGcaaagtatgaagtaatacat	8	6	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:64395157G>A	uc003pep.1	+	3	1560	c.1534G>A	c.(1534-1536)GCA>ACA	p.A512T	PHF3_uc010kaf.1_Missense_Mutation_p.A512T|PHF3_uc003pem.2_Missense_Mutation_p.A465T|PHF3_uc010kag.1_Missense_Mutation_p.A424T|PHF3_uc010kah.1_Missense_Mutation_p.A326T|PHF3_uc003pen.2_Missense_Mutation_p.A424T|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.A512T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	512					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			AATTGTTGCAGCAAAGTATGA	0.328													A	64395157	G	A	64395157	3	1	188	1	0	0	0	0	1	0	0	0	11836	971	34	2	1544	2	PHF3	6	64395157	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	11254164	64395157	106719910	46	97793											
RIMS1	22999	broad.mit.edu	37	chr6	73100419	73100419	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactgatggcagcatcaacAgttacagctctgagggcaag	11	10	2	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:73100419A>G	uc003pga.2	+	30	4563	c.4486A>G	c.(4486-4488)AGT>GGT	p.S1496G	RIMS1_uc011dyb.1_Missense_Mutation_p.S893G|RIMS1_uc003pgc.2_Missense_Mutation_p.S945G|RIMS1_uc010kaq.2_Missense_Mutation_p.S816G|RIMS1_uc011dyc.1_Missense_Mutation_p.S621G|RIMS1_uc010kar.2_Missense_Mutation_p.S564G|RIMS1_uc011dyd.1_Missense_Mutation_p.S630G|RIMS1_uc003pgf.2_Missense_Mutation_p.S496G|RIMS1_uc003pgg.2_Missense_Mutation_p.S392G|RIMS1_uc003pgi.2_Missense_Mutation_p.S312G|RIMS1_uc003pgh.2_Missense_Mutation_p.S363G|RIMS1_uc003pgd.2_Missense_Mutation_p.S562G|RIMS1_uc003pge.2_Missense_Mutation_p.S536G|RIMS1_uc011dye.1_Missense_Mutation_p.S302G|RIMS1_uc011dyf.1_Missense_Mutation_p.S120G|RIMS1_uc011dyg.1_Missense_Mutation_p.S23G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1496					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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGCATCAACAGTTACAGCTC	0.478													G	73100419	A	G	73100419	3	3	188	1	0	0	0	0	1	0	0	0	13367	188	7	3	4767	3	RIMS1	6	73100419	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	8705262	73100419	98014648	47	97794											
OOEP	441161	broad.mit.edu	37	chr6	74079495	74079495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccgctgggactcagcGgcaccagcatcatcgaccat	10	16	2	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:74079495G>A	uc003pgu.3	-	1	21	c.21C>T	c.(19-21)GCC>GCT	p.A7A	OOEP_uc003pgv.3_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	7						cytoplasm					0						GGGACTCAGCGGCACCAGCAT	0.667													A	74079495	G	A	74079495	2	1	188	1	0	0	0	0	0	0	0	1	10870	1103	39	1		1	OOEP	6	74079495	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08	979076	74079495	97035572	48	97795											
EPB41L2	2037	broad.mit.edu	37	chr6	131225628	131225628	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatatcttcagtcaattgAgaaggatcaggaggataaaa	11	4	4	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:131225628A>C	uc003qch.2	-	6	1088	c.906T>G	c.(904-906)TCT>TCG	p.S302S	EPB41L2_uc003qcg.1_Silent_p.S302S|EPB41L2_uc011eby.1_Silent_p.S302S|EPB41L2_uc003qci.2_Silent_p.S302S|EPB41L2_uc010kfk.2_Silent_p.S302S|EPB41L2_uc010kfl.1_Silent_p.S302S	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	302	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGTCAATTGAGAAGGATCAG	0.353													C	131225628	A	C	131225628	2	2	188	1	0	0	0	0	0	0	0	1	5153	291	11	5		5	EPB41L2	6	131225628	Silent	SNP	A	TCGA-CG-5720-01A-11D-1600-08	57146133	131225628	39889439	49	97796											
C6orf118	168090	broad.mit.edu	37	chr6	165711567	165711567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccggcctctgccccagCgccttgagttgagccagaag	11	15	2	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr6:165711567C>T	uc003qum.3	-	5	996	c.960G>A	c.(958-960)GCG>GCA	p.A320A	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	320											0		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)		TCTGCCCCAGCGCCTTGAGTT	0.567													T	165711567	C	T	165711567	2	4	188	1	0	0	0	0	0	0	0	1	2323	755	27	1		1	C6orf118	6	165711567	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	34485939	165711567	5403500	50	97797											
PUS7	54517	broad.mit.edu	37	chr7	105108843	105108843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtcttctatcctcttgCttaccatgttattccacaca	3	13	3	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr7:105108843C>T	uc003vcx.2	-	12	1685	c.1466G>A	c.(1465-1467)AGC>AAC	p.S489N	PUS7_uc010lji.2_Missense_Mutation_p.S495N|PUS7_uc003vcy.2_Missense_Mutation_p.S489N|PUS7_uc003vcz.1_Missense_Mutation_p.S489N	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	489	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TATCCTCTTGCTTACCATGTT	0.403													T	105108843	C	T	105108843	3	4	188	1	0	0	0	0	1	0	0	0	12833	797	28	2	539	2	PUS7	7	105108843	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08		105108843	54029820	51	97798											
CTTNBP2	83992	broad.mit.edu	37	chr7	117417656	117417656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaacaacaggcttggatAtgccttcaggactctcttct	9	11	3	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr7:117417656A>G	uc003vjf.2	-	8	2779	c.2687T>C	c.(2686-2688)ATA>ACA	p.I896T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	896										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGGCTTGGATATGCCTTCAGG	0.478													G	117417656	A	G	117417656	3	3	188	1	0	0	0	0	1	0	0	0	4045	449	16	3	2368	3	CTTNBP2	7	117417656	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	12308813	117417656	41721007	52	97799											
MSR1	4481	broad.mit.edu	37	chr8	16021714	16021714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctttcatagccataAtttctgctgatacattgtaa	5	8	4	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr8:16021714A>G	uc003wwz.2	-	5	875	c.677T>C	c.(676-678)ATT>ACT	p.I226T	MSR1_uc010lsu.2_Missense_Mutation_p.I244T|MSR1_uc003wxa.2_Missense_Mutation_p.I226T|MSR1_uc003wxb.2_Missense_Mutation_p.I226T|MSR1_uc011kxz.1_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	226	Potential.|Extracellular (Potential).				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			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATAGCCATAATTTCTGCTGA	0.333													G	16021714	A	G	16021714	3	3	188	1	0	0	0	0	1	0	0	0	9886	101	4	3	750	3	MSR1	8	16021714	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08		16021714	130342308	53	97800											
TLE4	7091	broad.mit.edu	37	chr9	82267638	82267638	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggcttctggccctctccaGtgctctaggaggtcagtccc	12	15	4	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr9:82267638G>C	uc004ald.2	+	7	1349	c.500G>C	c.(499-501)AGT>ACT	p.S167T	TLE4_uc004alc.2_Missense_Mutation_p.S174T|TLE4_uc010mpr.2_Missense_Mutation_p.S53T|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.S142T|TLE4_uc010mps.2_Missense_Mutation_p.S167T|TLE4_uc004alf.2_Missense_Mutation_p.S113T	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GCCCTCTCCAGTGCTCTAGGA	0.547													C	82267638	G	C	82267638	3	2	188	1	0	0	0	0	1	0	0	0	15938	1029	36	5	547	5	TLE4	9	82267638	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08		82267638	58945793	54	97801											
TGFBR1	7046	broad.mit.edu	37	chr9	101891280	101891280	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaattgacttaattcctcgaGataggccgtttgtatgtgca	9	7	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr9:101891280G>C	uc004azc.2	+	2	317	c.241G>C	c.(241-243)GAT>CAT	p.D81H	TGFBR1_uc004azd.2_Missense_Mutation_p.D81H|TGFBR1_uc011lvc.1_Missense_Mutation_p.D12H|TGFBR1_uc004aze.2_Missense_Mutation_p.D12H	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	81	Extracellular (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				AATTCCTCGAGATAGGCCGTT	0.418													C	101891280	G	C	101891280	3	2	188	1	0	0	0	0	1	0	0	0	15818	942	33	5	247	5	TGFBR1	9	101891280	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	19623642	101891280	39322151	55	97802											
PFKFB3	5209	broad.mit.edu	37	chr10	6265969	6265969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaccgtcctgaaactgaCgcctgtcgcttatggtgagt	10	12	1	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr10:6265969C>T	uc001ije.2	+	12	1646	c.1262C>T	c.(1261-1263)ACG>ATG	p.T421M	PFKFB3_uc001ijd.2_Missense_Mutation_p.T401M|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.T435M|PFKFB3_uc001ijf.2_Missense_Mutation_p.T421M|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	421	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|identical protein binding			ovary(2)|central_nervous_system(1)	3						CTGAAACTGACGCCTGTCGCT	0.512													T	6265969	C	T	6265969	3	4	188	1	0	0	0	0	1	0	0	0	11762	536	19	1	1328	1	PFKFB3	10	6265969	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08		6265969	129268778	56	97803											
PCDH15	65217	broad.mit.edu	37	chr10	55582826	55582826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcttggcttgtattttggGtgaaaatgggtctacaaaat	10	5	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr10:55582826G>T	uc001jju.1	-	33	5055	c.4660C>A	c.(4660-4662)CCC>ACC	p.P1554T	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1551T|PCDH15_uc010qhw.1_Missense_Mutation_p.P1514T|PCDH15_uc010qhx.1_Missense_Mutation_p.P1485T|PCDH15_uc010qhy.1_Missense_Mutation_p.P1561T|PCDH15_uc010qhz.1_Missense_Mutation_p.P1556T|PCDH15_uc010qia.1_Missense_Mutation_p.P1534T|PCDH15_uc010qib.1_Missense_Mutation_p.P1531T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1554	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTATTTTGGGTGAAAATGGG	0.423										HNSCC(58;0.16)			T	55582826	G	T	55582826	3	4	188	1	0	0	0	0	1	0	0	0	11511	1261	44	5	2817	5	PCDH15	10	55582826	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	49316857	55582826	79951921	57	97804											
BICC1	80114	broad.mit.edu	37	chr10	60566791	60566791	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaccagtggtgacggAggtcagaacgcccacaaata	11	9	1	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr10:60566791A>C	uc001jki.1	+	17	2249	c.2249A>C	c.(2248-2250)GAG>GCG	p.E750A	BICC1_uc001jkj.1_Missense_Mutation_p.E391A	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	750					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GTGGTGACGGAGGTCAGAACG	0.398													C	60566791	A	C	60566791	3	2	188	1	0	0	0	0	1	0	0	0	1427	304	11	5	2315	5	BICC1	10	60566791	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	4983965	60566791	74967956	58	97805											
COL17A1	1308	broad.mit.edu	37	chr10	105830281	105830281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtggggctcacacttgcCgatcgactccccttgagcaa	12	14	1	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr10:105830281C>T	uc001kxr.2	-	9	679	c.510G>A	c.(508-510)TCG>TCA	p.S170S	COL17A1_uc010qqv.1_Silent_p.S154S|COL17A1_uc009xxp.1_Silent_p.S170S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	170	Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		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)		TCACACTTGCCGATCGACTCC	0.517													T	105830281	C	T	105830281	2	4	188	1	0	0	0	0	0	0	0	1	3674	639	23	1		1	COL17A1	10	105830281	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	45263490	105830281	29704466	59	97806											
DSCAML1	57453	broad.mit.edu	37	chr11	117301568	117301568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggatgtcatgctgtcGgcgttctcgttggtgcctgt	13	10	3	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr11:117301568G>A	uc001prh.1	-	32	5738	c.5736C>T	c.(5734-5736)GCC>GCT	p.A1912A		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1852	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		TCATGCTGTCGGCGTTCTCGT	0.592													A	117301568	G	A	117301568	2	1	188	1	0	0	0	0	0	0	0	1	4769	1103	39	1		1	DSCAML1	11	117301568	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08		117301568	17704948	60	97807											
PUS3	83480	broad.mit.edu	37	chr11	125765476	125765476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgagggaaaaaatagCggtaagtccgctcaaggcag	13	9	1	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr11:125765476C>T	uc001qcy.2	-	3	685	c.587G>A	c.(586-588)CGC>CAC	p.R196H	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	196						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GAAAAAATAGCGGTAAGTCCG	0.463													T	125765476	C	T	125765476	3	4	188	1	0	0	0	0	1	0	0	0	12832	768	27	1	866	1	PUS3	11	125765476	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	8463908	125765476	9241040	61	97808											
CACNA2D4	93589	broad.mit.edu	37	chr12	2024076	2024076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgttatacaggtccccgcCgaaggtgtcagcccatagct	11	12	1	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:2024076C>T	uc001qjp.2	-	2	484	c.253G>A	c.(253-255)GGC>AGC	p.G85S	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.G85S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	85	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	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)		AGGTCCCCGCCGAAGGTGTCA	0.413													T	2024076	C	T	2024076	3	4	188	1	0	0	0	0	1	0	0	0	2551	652	23	1	3308	1	CACNA2D4	12	2024076	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08		2024076	131827819	62	97809											
CHD4	1108	broad.mit.edu	37	chr12	6700638	6700638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttctctctcaccattgaAgcggtcaatggcctcttgcc	7	15	4	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:6700638A>G	uc001qpo.2	-	22	3498	c.3334T>C	c.(3334-3336)TTC>CTC	p.F1112L	CHD4_uc001qpn.2_Missense_Mutation_p.F1105L|CHD4_uc001qpp.2_Missense_Mutation_p.F1109L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1112	Helicase C-terminal.				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						TCACCATTGAAGCGGTCAATG	0.433													G	6700638	A	G	6700638	3	3	188	1	0	0	0	0	1	0	0	0	3327	72	3	3	2480	3	CHD4	12	6700638	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	4676562	6700638	127151257	63	97810											
C1S	716	broad.mit.edu	37	chr12	7177629	7177629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagagagatcgtgctgttCgcctcaaggcggcaaggtta	14	8	1	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:7177629C>T	uc001qsj.2	+	15	2460	c.1741C>T	c.(1741-1743)CGC>TGC	p.R581C	C1S_uc001qsk.2_Missense_Mutation_p.R581C|C1S_uc001qsl.2_Missense_Mutation_p.R581C|C1S_uc009zfr.2_Missense_Mutation_p.R414C|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	581	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCGTGCTGTTCGCCTCAAGGC	0.527													T	7177629	C	T	7177629	3	4	188	1	0	0	0	0	1	0	0	0	1974	884	31	1	1783	1	C1S	12	7177629	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	476991	7177629	126674266	64	97811											
SLC4A8	9498	broad.mit.edu	37	chr12	51853873	51853873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcttctctcaggcctaacaGaagtgccaatcccaacaagg	7	13	3	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:51853873G>C	uc001rys.1	+	8	1172	c.994G>C	c.(994-996)GAA>CAA	p.E332Q	SLC4A8_uc010sni.1_Missense_Mutation_p.E279Q|SLC4A8_uc001rym.2_Missense_Mutation_p.E279Q|SLC4A8_uc001ryn.2_Missense_Mutation_p.E279Q|SLC4A8_uc001ryo.2_Missense_Mutation_p.E279Q|SLC4A8_uc001ryp.1_Missense_Mutation_p.E279Q|SLC4A8_uc010snj.1_Missense_Mutation_p.E359Q|SLC4A8_uc001ryq.3_Missense_Mutation_p.E332Q|SLC4A8_uc001ryr.2_Missense_Mutation_p.E332Q|SLC4A8_uc010snk.1_Missense_Mutation_p.E279Q	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	332	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGGCCTAACAGAAGTGCCAAT	0.443													C	51853873	G	C	51853873	3	2	188	1	0	0	0	0	1	0	0	0	14659	943	33	5	1024	5	SLC4A8	12	51853873	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	44676244	51853873	81998022	65	97812											
KRT8	3856	broad.mit.edu	37	chr12	53298464	53298466	+	In_Frame_Del	DEL	TTG	TTG	-													tgtctatgaaggaggcaaacTtgttgttgagggtcttgatc							TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:53298463_53298465CTTG>C	uc009zmk.1	-	1	405_407	c.385_387CAAG>G	c.(385-387)aag>G	p.K129del	KRT8_uc001sbd.2_In_Frame_Del_p.K101del|KRT8_uc009zml.1_In_Frame_Del_p.K101del|KRT8_uc009zmm.1_In_Frame_Del_p.K101del	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	101	Linker 1.|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)	AGGAGGCAAACTTGTTGTTGAGG	0.611													-	53298466	TTG	-	53298464	7	5	188	1	0	1	0	1	0	0	0	0	8493	1609	56	0	1181	0	KRT8	12	53298464	In_Frame_Del	DEL	TTG	TCGA-CG-5720-01A-11D-1600-08	1444591	53298464	80553431	66	97813											
IGF1	3479	broad.mit.edu	37	chr12	102811758	102811758	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctctgagacttcgtgttCttgttggtagatgggggctg	14	7	2	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:102811758C>A	uc001tjp.3	-	4	645	c.426G>T	c.(424-426)AAG>AAT	p.K142N	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Missense_Mutation_p.K142N|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	142					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						ACTTCGTGTTCTTGTTGGTAG	0.468													A	102811758	C	A	102811758	3	1	188	1	0	0	0	0	1	0	0	0	7570	912	32	5	229	5	IGF1	12	102811758	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	49513294	102811758	31040137	67	97814											
C12orf42	374470	broad.mit.edu	37	chr12	103696020	103696020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaatgggtggaagcacCggccagcagaggaaggggcg	21	7	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:103696020C>T	uc001tjt.2	-	6	1037	c.949G>A	c.(949-951)GGT>AGT	p.G317S	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.G317S|C12orf42_uc001tju.2_Missense_Mutation_p.G222S	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	317										ovary(1)|central_nervous_system(1)	2						GTGGAAGCACCGGCCAGCAGA	0.622													T	103696020	C	T	103696020	3	4	188	1	0	0	0	0	1	0	0	0	1688	652	23	1	137	1	C12orf42	12	103696020	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	884262	103696020	30155875	68	97815											
MYO1H	283446	broad.mit.edu	37	chr12	109826643	109826643	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagcgtttcagcgagaacctCatatacgtaacgtgacccac	8	12	2	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr12:109826643C>G	uc010sxn.1	+	1	120	c.120C>G	c.(118-120)CTC>CTG	p.L40L		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						myosin complex	motor activity				0						GCGAGAACCTCATATACGTAA	0.493													G	109826643	C	G	109826643	2	3	188	1	0	0	0	0	0	0	0	1	10075	813	29	5		5	MYO1H	12	109826643	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	6130623	109826643	24025252	69	97816											
BRCA2	675	broad.mit.edu	37	chr13	32912230	32912230	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttagtgatattgagaaTattagtgaggaaacttctgc	10	4	1	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr13:32912230T>C	uc001uub.1	+	11	3965	c.3738T>C	c.(3736-3738)AAT>AAC	p.N1246N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1246	BRCA2 2.				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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		ATATTGAGAATATTAGTGAGG	0.343			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32912230	T	C	32912230	2	2	188	1	0	0	0	0	0	0	0	1	1499	1403	49	3		3	BRCA2	13	32912230	Silent	SNP	T	TCGA-CG-5720-01A-11D-1600-08		32912230	82257648	70	97817											
FOXO1	2308	broad.mit.edu	37	chr13	41134410	41134410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtttggtggcgcaaaCgagtagcacggcgtctgctg	16	9	1	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr13:41134410C>T	uc001uxl.3	-	2	1603	c.1218G>A	c.(1216-1218)TCG>TCA	p.S406S	FOXO1_uc010acc.1_Silent_p.S221S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	406					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTGGCGCAAACGAGTAGCACG	0.478													T	41134410	C	T	41134410	2	4	188	1	0	0	0	0	0	0	0	1	6023	523	19	1		1	FOXO1	13	41134410	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	8222180	41134410	74035468	71	97818											
NFATC4	4776	broad.mit.edu	37	chr14	24841805	24841805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcggtcaccccgtagTcaaggtaaaggacagacagc	12	13	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr14:24841805T>C	uc001wpc.2	+	3	1676	c.1355T>C	c.(1354-1356)GTC>GCC	p.V452A	NFATC4_uc010tok.1_Missense_Mutation_p.V515A|NFATC4_uc010tol.1_Missense_Mutation_p.V515A|NFATC4_uc010alr.2_Missense_Mutation_p.V515A|NFATC4_uc010als.2_Missense_Mutation_p.V465A|NFATC4_uc010tom.1_Missense_Mutation_p.V465A|NFATC4_uc010ton.1_Missense_Mutation_p.V465A|NFATC4_uc010too.1_Missense_Mutation_p.V465A|NFATC4_uc010alt.2_Missense_Mutation_p.V484A|NFATC4_uc010top.1_Missense_Mutation_p.V484A|NFATC4_uc010toq.1_Missense_Mutation_p.V484A|NFATC4_uc010alu.2_Missense_Mutation_p.V144A|NFATC4_uc010tor.1_Missense_Mutation_p.V452A|NFATC4_uc010tos.1_Missense_Mutation_p.V382A|NFATC4_uc010tot.1_Missense_Mutation_p.V440A|NFATC4_uc010tou.1_Missense_Mutation_p.V382A|NFATC4_uc010tov.1_Missense_Mutation_p.V440A|NFATC4_uc010tow.1_Missense_Mutation_p.V382A|NFATC4_uc010alv.2_Missense_Mutation_p.V440A|NFATC4_uc010tox.1_Missense_Mutation_p.V382A|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	452	RHD.				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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CACCCCGTAGTCAAGGTAAAG	0.587													C	24841805	T	C	24841805	3	2	188	1	0	0	0	0	1	0	0	0	10365	1667	58	3	1558	3	NFATC4	14	24841805	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08		24841805	82507735	72	97819											
FBXO34	55030	broad.mit.edu	37	chr14	55818091	55818091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggctgatgaaggcaaaaCaaagaaaggcgtcttggagg	14	6	2	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr14:55818091C>T	uc001xbu.2	+	2	1228	c.983C>T	c.(982-984)ACA>ATA	p.T328I	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.T328I	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	328										ovary(2)|lung(2)|skin(1)	5						GAAGGCAAAACAAAGAAAGGC	0.517													T	55818091	C	T	55818091	3	4	188	1	0	0	0	0	1	0	0	0	5744	478	17	4	985	4	FBXO34	14	55818091	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	30976286	55818091	51531449	73	97820											
ADAM21	8747	broad.mit.edu	37	chr14	70924424	70924424	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atagtctgcggtttgggggcCagaaacacgttgttcatatg	13	7	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr14:70924424C>G	uc001xmd.2	+	1	208	c.208C>G	c.(208-210)CAG>GAG	p.Q70E		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	70					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTTTGGGGGCCAGAAACACGT	0.527													G	70924424	C	G	70924424	3	3	188	1	0	0	0	0	1	0	0	0	243	595	21	5	210	5	ADAM21	14	70924424	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	15106333	70924424	36425116	74	97821											
APBA2	321	broad.mit.edu	37	chr15	29398846	29398846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagggcgagatcctgggcGtggtggtggtggagtcgggc	21	7	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr15:29398846G>A	uc001zck.2	+	11	1948	c.1741G>A	c.(1741-1743)GTG>ATG	p.V581M	APBA2_uc010azj.2_Missense_Mutation_p.V569M|APBA2_uc010uat.1_Missense_Mutation_p.V569M|APBA2_uc001zcl.2_Missense_Mutation_p.V569M	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	581	PDZ 1.				nervous system development|protein transport		protein binding				0		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)		GATCCTGGGCGTGGTGGTGGT	0.662													A	29398846	G	A	29398846	3	1	188	1	0	0	0	0	1	0	0	0	757	1145	40	1	1775	1	APBA2	15	29398846	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08		29398846	73132546	75	97822											
RYR3	6263	broad.mit.edu	37	chr15	33855070	33855070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattagactccagtcacaaGcgagacatagaaggcatggg	11	8	1	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr15:33855070G>T	uc001zhi.2	+	11	1075	c.1005G>T	c.(1003-1005)AAG>AAT	p.K335N	RYR3_uc010bar.2_Missense_Mutation_p.K335N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	335	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CCAGTCACAAGCGAGACATAG	0.403													T	33855070	G	T	33855070	3	4	188	1	0	0	0	0	1	0	0	0	13770	962	34	5	1047	5	RYR3	15	33855070	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	4456224	33855070	68676322	76	97823											
PRTG	283659	broad.mit.edu	37	chr15	56032705	56032705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcactgatgtataaagagCcgttagaaagaacctcgatc	8	10	1	4			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr15:56032705C>T	uc002adg.2	-	2	320	c.272G>A	c.(271-273)GGC>GAC	p.G91D		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	91	Ig-like 1.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTATAAAGAGCCGTTAGAAAG	0.428													T	56032705	C	T	56032705	3	4	188	1	0	0	0	0	1	0	0	0	12638	739	26	2	3256	2	PRTG	15	56032705	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	22177635	56032705	46498687	77	97824											
IGDCC4	57722	broad.mit.edu	37	chr15	65693267	65693267	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccacgtcctgcccccTggtggacgccagggaccctg	12	16	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr15:65693267T>A	uc002aou.1	-	5	928	c.718A>T	c.(718-720)AGG>TGG	p.R240W		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	240	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						TCCTGCCCCCTGGTGGACGCC	0.463											OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65693267	T	A	65693267	3	1	188	1	0	0	0	0	1	0	0	0	7569	1579	55	5	3098	5	IGDCC4	15	65693267	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08	9660562	65693267	36838125	78	97825											
SPESP1	246777	broad.mit.edu	37	chr15	69238039	69238039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagccaggtcgtgagAaaaaatctaactctccaaaa	10	9	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr15:69238039A>G	uc002arn.1	+	2	294	c.166A>G	c.(166-168)AAA>GAA	p.K56E	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	56					multicellular organismal development	acrosomal vesicle					0						AGGTCGTGAGAAAAAATCTAA	0.383													G	69238039	A	G	69238039	3	3	188	1	0	0	0	0	1	0	0	0	15039	247	9	3	172	3	SPESP1	15	69238039	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	3544772	69238039	33293353	79	97826											
EFTUD1	79631	broad.mit.edu	37	chr15	82523297	82523297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttttgactgtagattctGgcgaagtgctcaattctgaa	9	6	3	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr15:82523297G>A	uc002bgt.1	-	8	916	c.747C>T	c.(745-747)GCC>GCT	p.A249A	EFTUD1_uc002bgu.1_Silent_p.A198A	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	249					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TGTAGATTCTGGCGAAGTGCT	0.244													A	82523297	G	A	82523297	2	1	188	1	0	0	0	0	0	0	0	1	4960	1335	47	4		4	EFTUD1	15	82523297	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08	13285258	82523297	20008095	80	97827											
FES	2242	broad.mit.edu	37	chr15	91432780	91432780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcccaccctgtgtcacgttCgatgagtcactgcttgagga	11	12	2	2	rs111243334		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr15:91432780C>A	uc002bpv.2	+	7	936	c.840C>A	c.(838-840)TTC>TTA	p.F280L	FES_uc010uqj.1_Missense_Mutation_p.F222L|FES_uc010uqk.1_Missense_Mutation_p.F262L|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.F222L|FES_uc002bpx.2_Missense_Mutation_p.F280L|FES_uc002bpy.2_Missense_Mutation_p.F222L	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	280	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTGTCACGTTCGATGAGTCAC	0.662													A	91432780	C	A	91432780	3	1	188	1	0	0	0	0	1	0	0	0	5820	883	31	5	862	5	FES	15	91432780	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	8909483	91432780	11098612	81	97828											
LONP2	83752	broad.mit.edu	37	chr16	48286217	48286217	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggagtttcccaacaccTgtaaaatgagggaggagcta	12	7	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr16:48286217T>A	uc002efi.1	+	2	498	c.409T>A	c.(409-411)TGT>AGT	p.C137S	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.C137S	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	137	Lon.				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				0						TCCCAACACCTGTAAAATGAG	0.408													A	48286217	T	A	48286217	3	1	188	1	0	0	0	0	1	0	0	0	8893	1580	55	5	415	5	LONP2	16	48286217	Missense_Mutation	SNP	T	TCGA-CG-5720-01A-11D-1600-08		48286217	42068536	82	97829											
SALL1	6299	broad.mit.edu	37	chr16	51173663	51173663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgttttcatcagagaAgttgtctaggtcatcaaaat	7	7	5	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr16:51173663A>C	uc010vgs.1	-	2	2501	c.2470T>G	c.(2470-2472)TTC>GTC	p.F824V	SALL1_uc010vgr.1_Missense_Mutation_p.F727V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	824					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCATCAGAGAAGTTGTCTAGG	0.507													C	51173663	A	C	51173663	3	2	188	1	0	0	0	0	1	0	0	0	13810	72	3	5	1512	5	SALL1	16	51173663	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	2887446	51173663	39181090	83	97830											
RLTPR	146206	broad.mit.edu	37	chr16	67688711	67688711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcggggagaaacagaaCtggctccatcctttgaacag	13	9	0	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr16:67688711C>T	uc002etn.2	+	32	3733	c.3613C>T	c.(3613-3615)CTG>TTG	p.L1205L	RLTPR_uc010vjr.1_Silent_p.L1169L	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1205										breast(1)	1		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)		AGAAACAGAACTGGCTCCATC	0.627													T	67688711	C	T	67688711	2	4	188	1	0	0	0	0	0	0	0	1	13394	564	20	4		4	RLTPR	16	67688711	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	16515048	67688711	22666042	84	97831											
ZFHX3	463	broad.mit.edu	37	chr16	72822363	72822363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagcggggctgagatcGtggctgcagttgccgtgggg	21	8	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr16:72822363G>A	uc002fck.2	-	10	10485	c.9812C>T	c.(9811-9813)ACG>ATG	p.T3271M	ZFHX3_uc002fcl.2_Missense_Mutation_p.T2357M	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3271					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCTGAGATCGTGGCTGCAGT	0.602													A	72822363	G	A	72822363	3	1	188	1	0	0	0	0	1	0	0	0	17631	1145	40	1	1303	1	ZFHX3	16	72822363	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	5133652	72822363	17532390	85	97832											
MAP2K4	6416	broad.mit.edu	37	chr17	12043181	12043181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggatgaatccaaaaggCcaaagtataaagagcttctg	10	7	1	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr17:12043181C>T	uc002gnj.2	+	10	1135	c.1066C>T	c.(1066-1068)CCA>TCA	p.P356S	MAP2K4_uc002gnk.2_Missense_Mutation_p.P367S|MAP2K4_uc010vvi.1_Missense_Mutation_p.P238S|MAP2K4_uc010vvj.1_Missense_Mutation_p.P228S	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	356	Protein kinase.			P -> L (in Ref. 10; AAH60764).	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.?(2)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		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)		ATCCAAAAGGCCAAAGTATAA	0.368			D|Mis|N		pancreatic|breast|colorectal								T	12043181	C	T	12043181	3	4	188	1	0	0	0	0	1	0	0	0	9239	739	26	2	1104	2	MAP2K4	17	12043181	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08		12043181	69152029	86	97833											
RNF43	54894	broad.mit.edu	37	chr17	56435766	56435766	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctggcccatctgccagGtacccactgcgttctgtgca	11	15	2	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr17:56435766G>T	uc002iwf.2	-	8	3327	c.1371C>A	c.(1369-1371)TAC>TAA	p.Y457*	RNF43_uc010wnv.1_Nonsense_Mutation_p.Y416*|RNF43_uc002iwh.3_Nonsense_Mutation_p.Y457*|RNF43_uc002iwg.3_Nonsense_Mutation_p.Y457*|RNF43_uc010dcw.2_Nonsense_Mutation_p.Y330*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	457	Cytoplasmic (Potential).|Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATCTGCCAGGTACCCACTGC	0.627													T	56435766	G	T	56435766	4	4	188	1	0	0	0	0	0	1	0	0	13495	1256	44	5	988	5	RNF43	17	56435766	Nonsense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	44392585	56435766	24759444	87	97834											
MTMR4	9110	broad.mit.edu	37	chr17	56569162	56569162	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatcaggaatgggcagcttCaggtggcagcatccagcaca	13	10	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr17:56569162C>T	uc002iwj.2	-	19	3560	c.3450G>A	c.(3448-3450)CTG>CTA	p.L1150L		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1150	FYVE-type.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGCAGCTTCAGGTGGCAGC	0.428													T	56569162	C	T	56569162	2	4	188	1	0	0	0	0	0	0	0	1	9946	813	29	4		4	MTMR4	17	56569162	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	133396	56569162	24626048	88	97835											
BPTF	2186	broad.mit.edu	37	chr17	65899995	65899995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaacgatgcagcaAgcgacatgggtaaaatacac	11	7	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr17:65899995A>G	uc002jgf.2	+	8	2695	c.2634A>G	c.(2632-2634)CAA>CAG	p.Q878Q	BPTF_uc002jge.2_Silent_p.Q1004Q|BPTF_uc010wqm.1_Silent_p.Q941Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1004	Potential.				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			ovary(2)|skin(2)	4	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)			cgaTGCAGCAAGCGACATGGG	0.249													G	65899995	A	G	65899995	2	3	188	1	0	0	0	0	0	0	0	1	1495	69	3	3		3	BPTF	17	65899995	Silent	SNP	A	TCGA-CG-5720-01A-11D-1600-08	9330833	65899995	15295215	89	97836											
METTL4	64863	broad.mit.edu	37	chr18	2544689	2544689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcttgaaccctccccaGtataagaccttcgtagggct	7	12	1	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr18:2544689G>A	uc002klh.3	-	7	1924	c.1144C>T	c.(1144-1146)CTG>TTG	p.L382L	METTL4_uc010dkj.2_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	382					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2						ACCCTCCCCAGTATAAGACCT	0.358													A	2544689	G	A	2544689	2	1	188	1	0	0	0	0	0	0	0	1	9502	1020	36	4		4	METTL4	18	2544689	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08		2544689	75532559	90	97837											
ASXL3	80816	broad.mit.edu	37	chr18	31263444	31263444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtcaacactaacttgaGggcattaataaataaacata	5	7	2	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr18:31263444G>A	uc010dmg.1	+	8	846	c.791G>A	c.(790-792)AGG>AAG	p.R264K	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ACTAACTTGAGGGCATTAATA	0.423													A	31263444	G	A	31263444	3	1	188	1	0	0	0	0	1	0	0	0	1068	1000	35	4	821	4	ASXL3	18	31263444	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	28718755	31263444	46813804	91	97838											
CCDC94	55702	broad.mit.edu	37	chr19	4249236	4249236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcagaaatactacccGccggactttgacccatcaaa	6	16	1	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:4249236G>A	uc002lzv.3	+	2	69	c.36G>A	c.(34-36)CCG>CCA	p.P12P		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	12											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AATACTACCCGCCGGACTTTG	0.567													A	4249236	G	A	4249236	2	1	188	1	0	0	0	0	0	0	0	1	2873	1074	38	1		1	CCDC94	19	4249236	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08		4249236	54879747	92	97839											
MAN2B1	4125	broad.mit.edu	37	chr19	12767489	12767489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccccaggggattataaaCgatgacctggaactggggag	14	10	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:12767489C>T	uc002mub.2	-	13	1616	c.1540G>A	c.(1540-1542)GTT>ATT	p.V514I	MAN2B1_uc010dyv.1_Missense_Mutation_p.V513I	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	514					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GGATTATAAACGATGACCTGG	0.597													T	12767489	C	T	12767489	3	4	188	1	0	0	0	0	1	0	0	0	9216	536	19	1	1543	1	MAN2B1	19	12767489	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	8518253	12767489	46361494	93	97840											
MAST1	22983	broad.mit.edu	37	chr19	12969456	12969456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggcctttgtggagcgCgatatcctcaccttcgccga	11	14	1	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:12969456C>T	uc002mvm.2	+	12	1397	c.1269C>T	c.(1267-1269)CGC>CGT	p.R423R	MAST1_uc002mvk.2_Silent_p.R419R	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	423	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						TTGTGGAGCGCGATATCCTCA	0.567													T	12969456	C	T	12969456	2	4	188	1	0	0	0	0	0	0	0	1	9324	755	27	1		1	MAST1	19	12969456	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	201967	12969456	46159527	94	97841											
TMEM59L	25789	broad.mit.edu	37	chr19	18727858	18727858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggggggccgtctgcagCgcgtggaggtgacctggcga	19	11	1	1	rs150479603	byFrequency	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:18727858C>T	uc002njy.3	+	5	697	c.610C>T	c.(610-612)CGC>TGC	p.R204C	TMEM59L_uc010ebu.1_Missense_Mutation_p.R204C	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	204						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						CCGTCTGCAGCGCGTGGAGGT	0.637													T	18727858	C	T	18727858	3	4	188	1	0	0	0	0	1	0	0	0	16183	768	27	1	628	1	TMEM59L	19	18727858	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	5758402	18727858	40401125	95	97842											
MLL4	9757	broad.mit.edu	37	chr19	36215974	36215974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatggtgtgcaccgcgtcCgtgtggattttaaggtatgg	15	8	0	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:36215974C>T	uc010eei.2	+	11	3514	c.3514C>T	c.(3514-3516)CGT>TGT	p.R1172C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1172					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACCGCGTCCGTGTGGATTT	0.567													T	36215974	C	T	36215974	3	4	188	1	0	0	0	0	1	0	0	0	9623	652	23	1	3552	1	MLL4	19	36215974	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	17488116	36215974	22913009	96	97843											
MLL4	9757	broad.mit.edu	37	chr19	36216527	36216527	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaggtcgtggatccaagGtttgggcccaagggctggcc	16	10	0	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:36216527G>A	uc010eei.2	+	13	3789	c.3789_splice	c.e13+1	p.K1263_splice		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4						chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGATCCAAGGTTTGGGCCCA	0.642													A	36216527	G	A	36216527	5	1	188	1	0	0	0	0	0	0	1	0	9623	1275	44	4	3836	4	MLL4	19	36216527	Splice_Site	SNP	G	TCGA-CG-5720-01A-11D-1600-08	553	36216527	22912456	97	97844											
ZNF345	25850	broad.mit.edu	37	chr19	37369088	37369088	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatacaggtgagaaActttatgaatgtaagaactg	9	4	1	4			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:37369088A>C	uc002oex.2	+	3	1734	c.1356A>C	c.(1354-1356)AAA>AAC	p.K452N	ZNF345_uc002oey.3_Missense_Mutation_p.K452N|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	452					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			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGGTGAGAAACTTTATGAAT	0.403													C	37369088	A	C	37369088	3	2	188	1	0	0	0	0	1	0	0	0	17856	40	2	5	1358	5	ZNF345	19	37369088	Missense_Mutation	SNP	A	TCGA-CG-5720-01A-11D-1600-08	1152561	37369088	21759895	98	97845											
SUPT5H	6829	broad.mit.edu	37	chr19	39965244	39965244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccacacacgccaggctcAggcatcgagcagaactccag	9	16	1	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:39965244A>G	uc002olo.3	+	28	3089	c.2910A>G	c.(2908-2910)TCA>TCG	p.S970S	SUPT5H_uc002olp.3_Silent_p.S970S|SUPT5H_uc002olq.3_Silent_p.S966S|SUPT5H_uc002oln.3_Silent_p.S970S|SUPT5H_uc002olr.3_Silent_p.S970S|SUPT5H_uc002ols.1_Silent_p.S593S	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	970					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCAGGCTCAGGCATCGAGC	0.612											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	39965244	A	G	39965244	2	3	188	1	0	0	0	0	0	0	0	1	15396	175	7	3		3	SUPT5H	19	39965244	Silent	SNP	A	TCGA-CG-5720-01A-11D-1600-08	2596156	39965244	19163739	99	97846											
CEACAM4	1089	broad.mit.edu	37	chr19	42128059	42128059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcagaaaacacaccagGgcggccaccagagccacccc	10	16	0	3			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:42128059G>A	uc002orh.1	-	3	618	c.507C>T	c.(505-507)GCC>GCT	p.A169A	CEACAM4_uc010xwd.1_Silent_p.A169A	NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	169	Helical; (Potential).					integral to plasma membrane|membrane fraction					0						AACACACCAGGGCGGCCACCA	0.637													A	42128059	G	A	42128059	2	1	188	1	0	0	0	0	0	0	0	1	3194	1219	43	4		4	CEACAM4	19	42128059	Silent	SNP	G	TCGA-CG-5720-01A-11D-1600-08	2162815	42128059	17000924	100	97847											
VRK3	51231	broad.mit.edu	37	chr19	50519372	50519372	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacagtaggggcagaatttGaatgccgcttggatactttt	11	8	0	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:50519372G>C	uc002prg.2	-	3	146	c.48C>G	c.(46-48)TTC>TTG	p.F16L	VRK3_uc002prh.1_Missense_Mutation_p.F16L|VRK3_uc002pri.1_Missense_Mutation_p.F16L|VRK3_uc010ens.2_Missense_Mutation_p.F16L|VRK3_uc010ybl.1_Missense_Mutation_p.F16L|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Missense_Mutation_p.F16L|VRK3_uc002prk.1_Missense_Mutation_p.F16L|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.F16L|VRK3_uc010ybn.1_Missense_Mutation_p.F16L	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	16						nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGCAGAATTTGAATGCCGCTT	0.468													C	50519372	G	C	50519372	3	2	188	1	0	0	0	0	1	0	0	0	17218	1281	45	5	1424	5	VRK3	19	50519372	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	8391313	50519372	8609611	101	97848											
KLK8	11202	broad.mit.edu	37	chr19	51503769	51503769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccctggaacaaggccgcCtgccaaggctgcgaatgggg	16	12	0	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:51503769C>T	uc002pur.1	-	3	320	c.141G>A	c.(139-141)CAG>CAA	p.Q47Q	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Silent_p.Q92Q|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.Q47Q|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	47	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACAAGGCCGCCTGCCAAGGCT	0.607													T	51503769	C	T	51503769	2	4	188	1	0	0	0	0	0	0	0	1	8410	680	24	4		4	KLK8	19	51503769	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08	984397	51503769	7625214	102	97849											
ZNF584	201514	broad.mit.edu	37	chr19	58928997	58928997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagatcctaccgcaatcGgcaccagcagttccacactg	7	16	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr19:58928997G>A	uc002qsp.2	+	4	1564	c.1112G>A	c.(1111-1113)CGG>CAG	p.R371Q	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.R326Q|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	371	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TACCGCAATCGGCACCAGCAG	0.507													A	58928997	G	A	58928997	3	1	188	1	0	0	0	0	1	0	0	0	18013	1116	39	1	1126	1	ZNF584	19	58928997	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08	7425228	58928997	199986	103	97850											
ASXL1	171023	broad.mit.edu	37	chr20	31022999	31022999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattagagaaaggaactggCcaagctcttgacagtcatcc	9	10	2	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr20:31022999C>T	uc002wxs.2	+	12	2910	c.2484C>T	c.(2482-2484)GGC>GGT	p.G828G	ASXL1_uc010geb.2_Silent_p.G719G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	828					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						AAGGAACTGGCCAAGCTCTTG	0.502			F|N|Mis		MDS|CMML								T	31022999	C	T	31022999	2	4	188	1	0	0	0	0	0	0	0	1	1066	726	26	2		2	ASXL1	20	31022999	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08		31022999	32002521	104	97851											
RBL1	5933	broad.mit.edu	37	chr20	35672579	35672579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaaactctccaaaatctgTtcttcaatgctgtttaggtg	7	9	4	0			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr20:35672579T>C	uc002xgi.2	-	13	1759	c.1680A>G	c.(1678-1680)GAA>GAG	p.E560E	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.E560E	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	560	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				CCAAAATCTGTTCTTCAATGC	0.483													C	35672579	T	C	35672579	2	2	188	1	0	0	0	0	0	0	0	1	13109	1722	60	3		3	RBL1	20	35672579	Silent	SNP	T	TCGA-CG-5720-01A-11D-1600-08	4649580	35672579	27352941	105	97852											
UMODL1	89766	broad.mit.edu	37	chr21	43539418	43539418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggaggtgatcagaggCgacaccttcatacagggtac	13	10	2	2			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chr21:43539418C>T	uc002zaf.1	+	15	2673	c.2673C>T	c.(2671-2673)GGC>GGT	p.G891G	UMODL1_uc002zad.1_Silent_p.G819G|UMODL1_uc002zae.1_Silent_p.G947G|UMODL1_uc002zag.1_Silent_p.G1019G|UMODL1_uc002zal.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	891	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TGATCAGAGGCGACACCTTCA	0.567													T	43539418	C	T	43539418	2	4	188	1	0	0	0	0	0	0	0	1	16977	755	27	1		1	UMODL1	21	43539418	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08		43539418	4590477	106	97853											
RBBP7	5931	broad.mit.edu	37	chrX	16876898	16876898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcatgtaacgagcacGgtttacttctccttcgtgat	10	11	1	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chrX:16876898G>A	uc004cxt.2	-	4	740	c.382C>T	c.(382-384)CGT>TGT	p.R128C	RBBP7_uc004cxs.1_Missense_Mutation_p.R172C|RBBP7_uc004cxu.2_Missense_Mutation_p.R119C|RBBP7_uc010nez.2_5'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	128	WD 2.				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			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					TAACGAGCACGGTTTACTTCT	0.388													A	16876898	G	A	16876898	3	1	188	1	0	0	0	0	1	0	0	0	13104	1116	39	1	931	1	RBBP7	23	16876898	Missense_Mutation	SNP	G	TCGA-CG-5720-01A-11D-1600-08		16876898	138393662	107	97854											
HUWE1	10075	broad.mit.edu	37	chrX	53563191	53563191	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accttggtagaagtggtaatCttcactctccatatctgtat	7	9	4	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chrX:53563191C>G	uc004dsp.2	-	80	12850	c.12448G>C	c.(12448-12450)GAT>CAT	p.D4150H	HUWE1_uc004dsn.2_Missense_Mutation_p.D2958H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AAGTGGTAATCTTCACTCTCC	0.448													G	53563191	C	G	53563191	3	3	188	1	0	0	0	0	1	0	0	0	7461	913	32	5	696	5	HUWE1	23	53563191	Missense_Mutation	SNP	C	TCGA-CG-5720-01A-11D-1600-08	36686293	53563191	101707369	108	97855											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760593	119760593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcaaacgtagtggggcgTgcaaggaagaaccagttgta	14	6	0	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chrX:119760593T>C	uc004esy.2	-	3	776	c.429A>G	c.(427-429)GCA>GCG	p.A143A	C1GALT1C1_uc004esz.2_Silent_p.A143A	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	143	Lumenal (Potential).					integral to membrane					0						TAGTGGGGCGTGCAAGGAAGA	0.363													C	119760593	T	C	119760593	2	2	188	1	0	0	0	0	0	0	0	1	1953	1683	59	3		3	C1GALT1C1	23	119760593	Silent	SNP	T	TCGA-CG-5720-01A-11D-1600-08	66197402	119760593	35509967	109	97856											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925026	4925026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtggtgttccactctggCgcccaggagaaaaactacac	11	12	1	1			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860f8b7e-9705-4078-8cbb-bd27012cb95f	29503ca2-3a73-47a6-ab23-d8e6c82751bd	g.chrY:4925026C>T	uc004fqo.2	+	1	896	c.162C>T	c.(160-162)GGC>GGT	p.G54G	PCDH11Y_uc010nwg.1_Silent_p.G43G|PCDH11Y_uc004fql.1_Silent_p.G43G|PCDH11Y_uc004fqm.1_Silent_p.G43G|PCDH11Y_uc004fqn.1_Silent_p.G54G	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	54	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TCCACTCTGGCGCCCAGGAGA	0.463													T	4925026	C	T	4925026	2	4	188	1	0	0	0	0	0	0	0	1	11509	755	27	1		1	PCDH11Y	24	4925026	Silent	SNP	C	TCGA-CG-5720-01A-11D-1600-08		4925026	54448540	110	97857											
AGRN	375790	broad.mit.edu	37	chr1	979559	979559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagctgtgccggcagcgCggtggcatctgggacgagga	19	10	1	0	rs146441147		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:979559C>T	uc001ack.1	+	11	2120	c.2070C>T	c.(2068-2070)CGC>CGT	p.R690R		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	690					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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;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)		GCCGGCAGCGCGGTGGCATCT	0.682													T	979559	C	T	979559	2	4	189	1	0	0	0	0	0	0	0	1	397	755	27	1		1	AGRN	1	979559	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08		979559	248271062	1	97858											
GLTPD1	80772	broad.mit.edu	37	chr1	1262961	1262961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaccacccctgggtcgtgCgccgcgccgtcaccgtggcc	12	20	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:1262961C>T	uc001aeo.2	+	3	878	c.463C>T	c.(463-465)CGC>TGC	p.R155C	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	155						cytoplasm	glycolipid binding|glycolipid transporter activity				0	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)		CTGGGTCGTGCGCCGCGCCGT	0.721													T	1262961	C	T	1262961	3	4	189	1	0	0	0	0	1	0	0	0	6472	768	27	1	469	1	GLTPD1	1	1262961	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	283402	1262961	247987660	2	97859											
DVL1	1855	broad.mit.edu	37	chr1	1275137	1275137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgggaaacgatctccCgcagcacccgcacggcatcg	11	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:1275137C>T	uc001aer.3	-	9	1012	c.965G>A	c.(964-966)CGG>CAG	p.R322Q	DVL1_uc002quu.2_Missense_Mutation_p.R39Q|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_Missense_Mutation_p.G9R	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	322	PDZ.				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				0	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)		AACGATCTCCCGCAGCACCCG	0.642													T	1275137	C	T	1275137	3	4	189	1	0	0	0	0	1	0	0	0	4835	652	23	1	1075	1	DVL1	1	1275137	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	12176	1275137	247975484	3	97860											
MXRA8	54587	broad.mit.edu	37	chr1	1289409	1289409	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcccagcactgcctcaCctagctggatgtcctcactc	8	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:1289409C>T	uc001aew.2	-	8	1253	c.1222_splice	c.e8+1	p.D408_splice	MXRA8_uc001aex.3_Splice_Site_p.A408_splice|MXRA8_uc001aey.3_Splice_Site_p.D408_splice|MXRA8_uc010nyl.1_Splice_Site_p.D408_splice|MXRA8_uc001aez.2_Splice_Site_p.D307_splice|MXRA8_uc001afa.2_Splice_Site_p.D399_splice	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor							integral to membrane					0	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)		CACTGCCTCACCTAGCTGGAT	0.642													T	1289409	C	T	1289409	5	4	189	1	0	0	0	0	0	0	1	0	10005	521	18	4	117	4	MXRA8	1	1289409	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	14272	1289409	247961212	4	97861											
ATAD3C	219293	broad.mit.edu	37	chr1	1389866	1389866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggtgcttgaggcgctgCggcaccccatccaggtagcg	14	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:1389866C>T	uc001aft.2	+	4	1359	c.364C>T	c.(364-366)CGG>TGG	p.R122W		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	122							ATP binding|nucleoside-triphosphatase activity				0	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)		TGAGGCGCTGCGGCACCCCAT	0.662													T	1389866	C	T	1389866	3	4	189	1	0	0	0	0	1	0	0	0	1075	759	27	1	378	1	ATAD3C	1	1389866	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	100457	1389866	247860755	5	97862											
CDK11B	984	broad.mit.edu	37	chr1	1575796	1575796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actctccccggaatctcggtCgaaccgtgactctggaactg	10	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:1575796C>T	uc001agv.1	-	15	1204	c.1093G>A	c.(1093-1095)GAC>AAC	p.D365N	CDK11B_uc009vkj.2_Missense_Mutation_p.D22N|CDK11B_uc001ags.1_Missense_Mutation_p.D223N|CDK11B_uc001agt.1_Missense_Mutation_p.D148N|CDK11B_uc001aha.1_Missense_Mutation_p.D331N|CDK11B_uc001agw.1_Missense_Mutation_p.D320N|CDK11B_uc001agy.1_Missense_Mutation_p.D363N|CDK11B_uc001agx.1_Missense_Mutation_p.D354N|CDK11B_uc001agz.1_Missense_Mutation_p.D109N	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	378	Glu-rich.				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			skin(1)	1						GAATCTCGGTCGAACCGTGAC	0.582													T	1575796	C	T	1575796	3	4	189	1	0	0	0	0	1	0	0	0	3127	884	31	1	1295	1	CDK11B	1	1575796	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	185930	1575796	247674825	6	97863											
NADK	65220	broad.mit.edu	37	chr1	1685540	1685541	+	Frame_Shift_Ins	INS	-	-	G													ggccggaaggacagcgagtgINSggggcagatgggcgtgatca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:1685539_1685540T>TG	uc001aic.3	-	9	1273_1274	c.1051_1052A>CA	c.(1051-1053)cacfs	p.H351fs	NADK_uc001aid.4_Frame_Shift_Ins_p.H351fs|NADK_uc001aie.3_Frame_Shift_Ins_p.H496fs|NADK_uc010nyv.2_Frame_Shift_Ins_p.H319fs	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	351					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|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)		GGACAGCGAGTGGGGGCAGATG	0.663													G	1685541	-	G	1685540	7	5	189	1	0	1	1	0	0	0	0	0	10137	1348	47	0	301	0	NADK	1	1685540	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	109744	1685540	247565081	7	97864											
C1orf86	199990	broad.mit.edu	37	chr1	2125140	2125140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcggcaccctccacagaCggctgctgctccaccctggg	12	19	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:2125140C>T	uc001aiy.2	-	3	434	c.408G>A	c.(406-408)CCG>CCA	p.P136P	C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Missense_Mutation_p.R132H	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN	hypothetical protein LOC199990 isoform 2	136											0	all_cancers(77;0.000134)|all_epithelial(69;4.45e-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;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCCACAGACGGCTGCTGCT	0.721													T	2125140	C	T	2125140	2	4	189	1	0	0	0	0	0	0	0	1	2063	536	19	1		1	C1orf86	1	2125140	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	439600	2125140	247125481	8	97865											
PEX10	5192	broad.mit.edu	37	chr1	2337210	2337210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgggcgccggctcagcGgtagtgccgaaggtagatga	16	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:2337210G>A	uc001ajh.2	-	6	1045	c.976C>T	c.(976-978)CGC>TGC	p.R326C	PEX10_uc001ajg.2_Missense_Mutation_p.R346C	NM_002617	NP_002608	O60683	PEX10_HUMAN	peroxisome biogenesis factor 10 isoform 2	326					protein import into peroxisome matrix|protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CCGGCTCAGCGGTAGTGCCGA	0.602													A	2337210	G	A	2337210	3	1	189	1	0	0	0	0	1	0	0	0	11736	1116	39	1	8	1	PEX10	1	2337210	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	212070	2337210	246913411	9	97866											
PRDM16	63976	broad.mit.edu	37	chr1	3342703	3342703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaccacgcacttttagaCgagaaagaagactcttattt	7	9	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:3342703C>T	uc001akf.2	+	14	3278	c.3198C>T	c.(3196-3198)GAC>GAT	p.D1066D	PRDM16_uc001akc.2_Silent_p.D1065D|PRDM16_uc001akd.2_Silent_p.D1065D|PRDM16_uc001ake.2_Silent_p.D1066D|PRDM16_uc009vlh.2_Silent_p.D766D	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1066	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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		CACTTTTAGACGAGAAAGAAG	0.522			T	EVI1	MDS|AML								T	3342703	C	T	3342703	2	4	189	1	0	0	0	0	0	0	0	1	12457	535	19	1		1	PRDM16	1	3342703	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1005493	3342703	245907918	10	97867											
MEGF6	1953	broad.mit.edu	37	chr1	3417557	3417557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctaaagccggtccaccCgggggcacagctgcagtgtc	14	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:3417557C>T	uc001akl.2	-	20	2775	c.2548G>A	c.(2548-2550)GGG>AGG	p.G850R	MEGF6_uc001akk.2_Missense_Mutation_p.G745R	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	850	EGF-like 14.					extracellular region	calcium ion binding			large_intestine(1)	1	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)		CCGGTCCACCCGGGGGCACAG	0.647													T	3417557	C	T	3417557	3	4	189	1	0	0	0	0	1	0	0	0	9462	652	23	1	2149	1	MEGF6	1	3417557	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	74854	3417557	245833064	11	97868											
MEGF6	1953	broad.mit.edu	37	chr1	3425206	3425206	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtccctccgttcctgcagtCatcacaggtcaagctgcagt	10	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:3425206C>T	uc001akl.2	-	13	1803	c.1576G>A	c.(1576-1578)GAC>AAC	p.D526N	MEGF6_uc001akk.2_Missense_Mutation_p.D421N	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	526	EGF-like 9.					extracellular region	calcium ion binding			large_intestine(1)	1	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)		TTCCTGCAGTCATCACAGGTC	0.627													T	3425206	C	T	3425206	3	4	189	1	0	0	0	0	1	0	0	0	9462	826	29	4	3149	4	MEGF6	1	3425206	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7649	3425206	245825415	12	97869											
CCDC27	148870	broad.mit.edu	37	chr1	3679950	3679950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgtttgaggaggagctGctggcccagctggaggagta	18	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:3679950G>A	uc001akv.2	+	7	1314	c.1233G>A	c.(1231-1233)CTG>CTA	p.L411L		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	411	Glu-rich.									skin(1)	1	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)		AGGAGGAGCTGCTGGCCCAGC	0.468													A	3679950	G	A	3679950	2	1	189	1	0	0	0	0	0	0	0	1	2801	1306	46	2		2	CCDC27	1	3679950	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	254744	3679950	245570671	13	97870											
CCDC27	148870	broad.mit.edu	37	chr1	3688025	3688025	+	Frame_Shift_Del	DEL	C	C	-													agcagaaaggcgtcaaagtgCcccccctgcaacagtcagag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:3688024_3688024GC>G	uc001akv.2	+	11	1989	c.1908_1908GC>G	c.(1906-1908)gtgfs	p.V636fs	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	636										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)		GCGTCAAAGTGCCCCCCCTGC	0.547													-	3688025	C	-	3688025	7	5	189	1	0	1	0	1	0	0	0	0	2801	739	26	0	1955	0	CCDC27	1	3688025	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	8075	3688025	245562596	14	97871											
C1orf174	339448	broad.mit.edu	37	chr1	3809519	3809519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctggctgccgaacaactTcgtgctttcaagcgcgctga	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:3809519T>C	uc001alf.2	-	2	164	c.57A>G	c.(55-57)CGA>CGG	p.R19R	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	19											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAACAACTTCGTGCTTTCA	0.562													C	3809519	T	C	3809519	2	2	189	1	0	0	0	0	0	0	0	1	2015	1770	62	3		3	C1orf174	1	3809519	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	121494	3809519	245441102	15	97872											
AJAP1	55966	broad.mit.edu	37	chr1	4834505	4834505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccctcctcttctgatcgGcatcttattcctgtggcctt	7	14	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:4834505G>A	uc001alm.1	+	5	1563	c.1182G>A	c.(1180-1182)CGG>CGA	p.R394R	AJAP1_uc001aln.2_Silent_p.R394R	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	394	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	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)		CTTCTGATCGGCATCTTATTC	0.547													A	4834505	G	A	4834505	2	1	189	1	0	0	0	0	0	0	0	1	438	1190	42	2		2	AJAP1	1	4834505	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1024986	4834505	244416116	16	97873											
CHD5	26038	broad.mit.edu	37	chr1	6196693	6196693	+	Frame_Shift_Del	DEL	A	A	-													ttgtagctgtttaagaccctAaaaaactgaggggaggagag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6196692_6196692TA>T	uc001amb.2	-	16	2692	c.2581_2581TA>A	c.(2581-2583)aggfs	p.R861fs	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	861	Helicase ATP-binding.				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)		TTTAAGACCCTAAAAAACTGA	0.602													-	6196693	A	-	6196693	7	5	189	1	0	1	0	1	0	0	0	0	3328	359	13	0	3384	0	CHD5	1	6196693	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1362188	6196693	243053928	17	97874											
CHD5	26038	broad.mit.edu	37	chr1	6204099	6204099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctgtggccccagtagGcctgcttgaggttgtcgtag	13	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6204099G>A	uc001amb.1	-	12	2019	c.1919C>T	c.(1918-1920)GCC>GTC	p.A640V	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	640	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		GCCCCAGTAGGCCTGCTTGAG	0.612													A	6204099	G	A	6204099	3	1	189	1	0	0	0	0	1	0	0	0	3328	1203	42	2	4065	2	CHD5	1	6204099	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7406	6204099	243046522	18	97875											
CHD5	26038	broad.mit.edu	37	chr1	6212526	6212526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagcggaacttgagcccGgccgtctttttccctttgcc	10	15	1	1	rs140463225	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6212526G>A	uc001amb.1	-	6	916	c.816C>T	c.(814-816)GCC>GCT	p.A272A		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	272	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		ACTTGAGCCCGGCCGTCTTTT	0.403													A	6212526	G	A	6212526	2	1	189	1	0	0	0	0	0	0	0	1	3328	1103	39	1		1	CHD5	1	6212526	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	8427	6212526	243038095	19	97876											
GPR153	387509	broad.mit.edu	37	chr1	6313900	6313900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgccgcttgccctgcgCgtcctccaccacgatggtgg	14	16	0	0	rs141201270	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6313900C>T	uc001amp.1	-	3	924	c.664G>A	c.(664-666)GCG>ACG	p.A222T		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	222	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	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)		TTGCCCTGCGCGTCCTCCACC	0.672													T	6313900	C	T	6313900	3	4	189	1	0	0	0	0	1	0	0	0	6659	768	27	1	1181	1	GPR153	1	6313900	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	101374	6313900	242936721	20	97877											
ACOT7	11332	broad.mit.edu	37	chr1	6399491	6399491	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactgtcgctcccagaagtAcctgtgaggatgttttcgga	11	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6399491A>G	uc001ams.2	-	3	605	c.448_splice	c.e3+1	p.G150_splice	ACOT7_uc010nzq.1_Splice_Site_p.G35_splice|ACOT7_uc001amt.2_Splice_Site_p.G140_splice|ACOT7_uc001amu.2_Splice_Site|ACOT7_uc001amv.2_Splice_Site|ACOT7_uc001amq.2_Splice_Site_p.G99_splice|ACOT7_uc001amr.2_Splice_Site_p.G120_splice	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb							mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCCCAGAAGTACCTGTGAGGA	0.597													G	6399491	A	G	6399491	5	3	189	1	0	0	0	0	0	0	1	0	155	405	14	3	720	3	ACOT7	1	6399491	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	85591	6399491	242851130	21	97878											
TNFRSF25	8718	broad.mit.edu	37	chr1	6524767	6524767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgaacagttctccagcGccacctgggaggctggtggg	15	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6524767G>A	uc001ane.2	-	4	396	c.308C>T	c.(307-309)GCG>GTG	p.A103V	TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.A103V|TNFRSF25_uc001ang.2_Missense_Mutation_p.A58V|TNFRSF25_uc001anh.2_Missense_Mutation_p.A103V|TNFRSF25_uc001ani.1_Missense_Mutation_p.A103V	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	103	TNFR-Cys 2.|Extracellular (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	p.A103A(1)		central_nervous_system(2)|breast(1)	3	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)		GTTCTCCAGCGCCACCTGGGA	0.592													A	6524767	G	A	6524767	3	1	189	1	0	0	0	0	1	0	0	0	16293	1087	38	1	1004	1	TNFRSF25	1	6524767	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	125276	6524767	242725854	22	97879											
TAS1R1	80835	broad.mit.edu	37	chr1	6631009	6631009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctaccacctcttccagGctatgcggcttggggttgag	13	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6631009G>A	uc001ant.2	+	2	232	c.232G>A	c.(232-234)GCT>ACT	p.A78T	TAS1R1_uc001anu.2_Missense_Mutation_p.A78T|TAS1R1_uc001anv.2_Missense_Mutation_p.A78T|TAS1R1_uc001anw.2_Missense_Mutation_p.A78T	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	78	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		CCTCTTCCAGGCTATGCGGCT	0.542													A	6631009	G	A	6631009	3	1	189	1	0	0	0	0	1	0	0	0	15559	1203	42	2	238	2	TAS1R1	1	6631009	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	106242	6631009	242619612	23	97880											
TAS1R1	80835	broad.mit.edu	37	chr1	6636476	6636476	+	Splice_Site	DEL	T	T	-													tgatacgcgtttctttcagcTtttggagcagatccacaagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6636475_6636475CT>C	uc001ant.3	+	4	1357	c.1261_splice	c.e4-1	p.L421_splice	TAS1R1_uc001anu.3_Splice_Site_p.L167_splice|TAS1R1_uc021ofp.1_Intron	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	421					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)		TTTCTTTCAGCTTTTGGAGCA	0.512													-	6636476	T	-	6636476	8	5	189	1	0	1	0	1	0	0	1	0	15559	1623	56	0	1276	0	TAS1R1	1	6636476	Splice_Site	DEL	T	TCGA-CG-5721-01A-11D-1600-08	5467	6636476	242614145	24	97881											
KLHL21	9903	broad.mit.edu	37	chr1	6659354	6659354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtggtgtggtcatagcGctcggtgctgtcggcggcca	17	10	2	0	rs141248147		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6659354G>A	uc001aoa.2	-	2	1232	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C	KLHL21_uc001anz.1_Missense_Mutation_p.R394C|KLHL21_uc009vme.2_Missense_Mutation_p.R27C	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	394	Kelch 3.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	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)		TGGTCATAGCGCTCGGTGCTG	0.657													A	6659354	G	A	6659354	3	1	189	1	0	0	0	0	1	0	0	0	8376	1087	38	1	625	1	KLHL21	1	6659354	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	22878	6659354	242591267	25	97882											
PHF13	148479	broad.mit.edu	37	chr1	6679933	6679933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgacagcgacggctgggAcgcgggtttctcagacatcg	14	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:6679933A>G	uc001aob.3	+	3	583	c.212A>G	c.(211-213)GAC>GGC	p.D71G		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	PHD finger protein 13	71					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|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;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GACGGCTGGGACGCGGGTTTC	0.572													G	6679933	A	G	6679933	3	3	189	1	0	0	0	0	1	0	0	0	11824	275	10	3	222	3	PHF13	1	6679933	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20579	6679933	242570688	26	97883											
PER3	8863	broad.mit.edu	37	chr1	7890044	7890044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaatccatcccatcctActgccagcgctctgtccaca	6	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:7890044A>G	uc001aoo.2	+	18	3185	c.3010A>G	c.(3010-3012)ACT>GCT	p.T1004A	PER3_uc009vmg.1_Missense_Mutation_p.T1012A|PER3_uc009vmh.1_Missense_Mutation_p.T1005A|PER3_uc001aop.2_Missense_Mutation_p.T1013A|PER3_uc010nzw.1_Missense_Mutation_p.T693A	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	1004	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	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)		ATCCCATCCTACTGCCAGCGC	0.587													G	7890044	A	G	7890044	3	3	189	1	0	0	0	0	1	0	0	0	11731	391	14	3	3080	3	PER3	1	7890044	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1210111	7890044	241360577	27	97884											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998254	7998254	+	Splice_Site	DEL	T	T	-													caaagaaacgcaaacgtaccTttttttgtcagttcttgacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408													-	7998254	T	-	7998254	8	5	189	1	0	1	0	1	0	0	1	0	16297	1623	56	0	442	0	TNFRSF9	1	7998254	Splice_Site	DEL	T	TCGA-CG-5721-01A-11D-1600-08	108210	7998254	241252367	28	97885											
ERRFI1	54206	broad.mit.edu	37	chr1	8073280	8073280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccaaggtctaaggagaaAccacataggataaatgttta	8	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:8073280A>G	uc001aoz.2	-	4	1628	c.1379T>C	c.(1378-1380)GTT>GCT	p.V460A		NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	460					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			ovary(1)	1	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)		CTAAGGAGAAACCACATAGGA	0.438													G	8073280	A	G	8073280	3	3	189	1	0	0	0	0	1	0	0	0	5244	43	2	3	13	3	ERRFI1	1	8073280	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	75026	8073280	241177341	29	97886											
ERRFI1	54206	broad.mit.edu	37	chr1	8074255	8074255	+	Frame_Shift_Del	DEL	T	T	-													aggggaaaagggaaggggagTtttttatgggtgtcagtgga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:8074254_8074254GT>G	uc001aoz.3	-	3	654	c.405_405AC>C	c.(403-405)aacfs	p.N135fs	ERRFI1_uc001apa.1_Frame_Shift_Del_p.N60fs	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	135					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	Rho GTPase activator activity|protein kinase binding			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)		GGGAAGGGGAGTTTTTTATGG	0.502													-	8074255	T	-	8074255	7	5	189	1	0	1	0	1	0	0	0	0	5244	1725	60	0	988	0	ERRFI1	1	8074255	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	975	8074255	241176366	30	97887											
SLC45A1	50651	broad.mit.edu	37	chr1	8397983	8397983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagaggcgtatcagaagTacaacagcggcgtgaccatg	12	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:8397983T>C	uc001apb.2	+	6	1705	c.1705T>C	c.(1705-1707)TAC>CAC	p.Y569H	SLC45A1_uc001apc.2_Missense_Mutation_p.Y267H	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	569					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	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)		GTATCAGAAGTACAACAGCGG	0.597													C	8397983	T	C	8397983	3	2	189	1	0	0	0	0	1	0	0	0	14640	1638	57	3	1727	3	SLC45A1	1	8397983	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	323728	8397983	240852638	31	97888											
CA6	765	broad.mit.edu	37	chr1	9005977	9005977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttctgctgtccctgtTcctgctgggtggccaggccc	14	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:9005977T>C	uc001apm.2	+	1	56	c.32T>C	c.(31-33)TTC>TCC	p.F11S	CA6_uc009vmn.2_Missense_Mutation_p.F11S	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	11					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCCCTGTTCCTGCTGGGT	0.542													C	9005977	T	C	9005977	3	2	189	1	0	0	0	0	1	0	0	0	2521	1783	62	3	34	3	CA6	1	9005977	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	607994	9005977	240244644	32	97889											
H6PD	9563	broad.mit.edu	37	chr1	9305622	9305622	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattacttaggcaagcaggTgagcatcagcatggagcctg	12	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:9305622T>C	uc001apt.2	+	2	900	c.627_splice	c.e2+2	p.Q209_splice		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor							endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	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)	GGCAAGCAGGTGAGCATCAGC	0.602													C	9305622	T	C	9305622	5	2	189	1	0	0	0	0	0	0	1	0	6936	1710	59	3	631	3	H6PD	1	9305622	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	299645	9305622	239944999	33	97890											
TMEM201	199953	broad.mit.edu	37	chr1	9661349	9661349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacctgacaatggcaccAcccctggggccgagggctgg	13	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:9661349A>G	uc001apz.2	+	5	805	c.793A>G	c.(793-795)ACC>GCC	p.T265A	TMEM201_uc001apy.2_Missense_Mutation_p.T265A	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	265						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|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)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CAATGGCACCACCCCTGGGGC	0.687													G	9661349	A	G	9661349	3	3	189	1	0	0	0	0	1	0	0	0	16123	159	6	3	811	3	TMEM201	1	9661349	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	355727	9661349	239589272	34	97891											
RBP7	116362	broad.mit.edu	37	chr1	10067724	10067724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccatccacacgaacagcaGcctaaggaactactttgtga	7	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:10067724G>A	uc001aqq.2	+	2	232	c.170G>A	c.(169-171)AGC>AAC	p.S57N	RBP7_uc009vms.2_RNA	NM_052960	NP_443192	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	57						cytoplasm	retinal binding|retinol binding|transporter activity				0		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)	ACGAACAGCAGCCTAAGGAAC	0.383													A	10067724	G	A	10067724	3	1	189	1	0	0	0	0	1	0	0	0	13160	971	34	2	176	2	RBP7	1	10067724	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	406375	10067724	239182897	35	97892											
KIF1B	23095	broad.mit.edu	37	chr1	10381867	10381867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttactctggggcaatgcCgtgtacctaaaggaggccaa	12	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:10381867C>T	uc001aqx.3	+	24	2512	c.2310C>T	c.(2308-2310)GCC>GCT	p.A770A	KIF1B_uc001aqw.3_Silent_p.A724A|KIF1B_uc001aqy.2_Silent_p.A744A|KIF1B_uc001aqz.2_Silent_p.A770A|KIF1B_uc001ara.2_Silent_p.A730A|KIF1B_uc001arb.2_Silent_p.A756A	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	770					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		GGGGCAATGCCGTGTACCTAA	0.512													T	10381867	C	T	10381867	2	4	189	1	0	0	0	0	0	0	0	1	8284	639	23	1		1	KIF1B	1	10381867	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	314143	10381867	238868754	36	97893											
KIF1B	23095	broad.mit.edu	37	chr1	10384880	10384880	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agatggcctccagtgcccaaGacgaaagcgaaaccactgtg	11	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:10384880G>T	uc001aqx.3	+	26	2804	c.2602G>T	c.(2602-2604)GAC>TAC	p.D868Y	KIF1B_uc001aqw.3_Missense_Mutation_p.D822Y|KIF1B_uc001aqy.2_Missense_Mutation_p.D842Y|KIF1B_uc001aqz.2_Missense_Mutation_p.D868Y|KIF1B_uc001ara.2_Missense_Mutation_p.D828Y|KIF1B_uc001arb.2_Missense_Mutation_p.D854Y	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	868	Potential.				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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		CAGTGCCCAAGACGAAAGCGA	0.468													T	10384880	G	T	10384880	3	4	189	1	0	0	0	0	1	0	0	0	8284	942	33	5	4043	5	KIF1B	1	10384880	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3013	10384880	238865741	37	97894											
PGD	5226	broad.mit.edu	37	chr1	10460487	10460487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgtctccaaagttgatgAtttcttggccaatgaggcaa	10	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:10460487A>C	uc001arc.2	+	3	212	c.122A>C	c.(121-123)GAT>GCT	p.D41A	PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Missense_Mutation_p.D41A|PGD_uc010oal.1_Missense_Mutation_p.D28A	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	41					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	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)		AAAGTTGATGATTTCTTGGCC	0.502													C	10460487	A	C	10460487	3	2	189	1	0	0	0	0	1	0	0	0	11787	333	12	5	132	5	PGD	1	10460487	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	75607	10460487	238790134	38	97895											
TARDBP	23435	broad.mit.edu	37	chr1	11078874	11078874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaagtgaaagtaatgTcacagcgacatatgatagat	8	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:11078874T>C	uc001art.2	+	4	621	c.487T>C	c.(487-489)TCA>CCA	p.S163P	TARDBP_uc010oap.1_Missense_Mutation_p.S47P	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	163	RRM 1.			Missing: Completely abolishes RNA binding.	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			ovary(2)	2	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)		GAAAGTAATGTCACAGCGACA	0.398													C	11078874	T	C	11078874	3	2	189	1	0	0	0	0	1	0	0	0	15554	1667	58	3	497	3	TARDBP	1	11078874	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	618387	11078874	238171747	39	97896											
EXOSC10	5394	broad.mit.edu	37	chr1	11131025	11131025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcctttgcctgttcccGggcagctgcaagggagagaa	13	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:11131025G>A	uc001asa.2	-	21	2298	c.2248C>T	c.(2248-2250)CGG>TGG	p.R750W	EXOSC10_uc001asb.2_Missense_Mutation_p.R725W	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	750					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			upper_aerodigestive_tract(1)	1	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)		GCCTGTTCCCGGGCAGCTGCA	0.582													A	11131025	G	A	11131025	3	1	189	1	0	0	0	0	1	0	0	0	5314	1115	39	1	429	1	EXOSC10	1	11131025	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	52151	11131025	238119596	40	97897											
EXOSC10	5394	broad.mit.edu	37	chr1	11142796	11142796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgagtccacgttgcagTagagtttcaggagatgatcg	13	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:11142796T>C	uc001asa.2	-	10	1279	c.1229A>G	c.(1228-1230)TAC>TGC	p.Y410C	EXOSC10_uc001asb.2_Missense_Mutation_p.Y410C|EXOSC10_uc009vmy.1_Missense_Mutation_p.Y410C	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	410					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			upper_aerodigestive_tract(1)	1	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)		CACGTTGCAGTAGAGTTTCAG	0.448													C	11142796	T	C	11142796	3	2	189	1	0	0	0	0	1	0	0	0	5314	1638	57	3	1492	3	EXOSC10	1	11142796	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11771	11142796	238107825	41	97898											
MTOR	2475	broad.mit.edu	37	chr1	11288788	11288788	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggcatgacctggggcagGaactgcacacatttgagtcc	14	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:11288788G>A	uc001asd.2	-	19	3088	c.2967C>T	c.(2965-2967)TTC>TTT	p.F989F		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	989	HEAT 4.				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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CCTGGGGCAGGAACTGCACAC	0.527													A	11288788	G	A	11288788	2	1	189	1	0	0	0	0	0	0	0	1	9954	1165	41	4		4	MTOR	1	11288788	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	145992	11288788	237961833	42	97899											
UBIAD1	29914	broad.mit.edu	37	chr1	11333988	11333988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgcaggatgtcgtccggTtcggagtcttcctctacacg	12	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:11333988T>C	uc001asg.2	+	1	734	c.400T>C	c.(400-402)TTC>CTC	p.F134L		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	134	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGTCGTCCGGTTCGGAGTCTT	0.522													C	11333988	T	C	11333988	3	2	189	1	0	0	0	0	1	0	0	0	16882	1725	60	3	402	3	UBIAD1	1	11333988	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	45200	11333988	237916633	43	97900											
PTCHD2	57540	broad.mit.edu	37	chr1	11580770	11580770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctccatcctcatcttgTccctggtgttcgccagccgg	9	16	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:11580770T>C	uc001ash.3	+	10	2365	c.2227T>C	c.(2227-2229)TCC>CCC	p.S743P	PTCHD2_uc001asi.1_Missense_Mutation_p.S743P	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	743	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CCTCATCTTGTCCCTGGTGTT	0.652													C	11580770	T	C	11580770	3	2	189	1	0	0	0	0	1	0	0	0	12733	1667	58	3	2261	3	PTCHD2	1	11580770	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	246782	11580770	237669851	44	97901											
PTCHD2	57540	broad.mit.edu	37	chr1	11586864	11586864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgacttcagcttctacGtggccaccaaggagcagcag	11	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:11586864G>A	uc001ash.3	+	13	2908	c.2770G>A	c.(2770-2772)GTG>ATG	p.V924M	PTCHD2_uc001asi.1_Missense_Mutation_p.V924M	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	924	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CAGCTTCTACGTGGCCACCAA	0.607													A	11586864	G	A	11586864	3	1	189	1	0	0	0	0	1	0	0	0	12733	1145	40	1	2816	1	PTCHD2	1	11586864	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6094	11586864	237663757	45	97902											
PLOD1	5351	broad.mit.edu	37	chr1	12034725	12034725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagggcgggggctgtcggTtcctgcgctacaactgttcc	14	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:12034725T>C	uc001atm.2	+	19	2135	c.2044T>C	c.(2044-2046)TTC>CTC	p.F682L	PLOD1_uc010obb.1_Missense_Mutation_p.F729L	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	682	Fe2OG dioxygenase.				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			ovary(2)|breast(1)	3	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)	GGGCTGTCGGTTCCTGCGCTA	0.632													C	12034725	T	C	12034725	3	2	189	1	0	0	0	0	1	0	0	0	12101	1725	60	3	2118	3	PLOD1	1	12034725	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	447861	12034725	237215896	46	97903											
MFN2	9927	broad.mit.edu	37	chr1	12057394	12057394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctccaccaggacaagcAgctccatgccggcagcctag	10	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:12057394A>G	uc001atn.3	+	6	968	c.515A>G	c.(514-516)CAG>CGG	p.Q172R	MFN2_uc009vni.2_Missense_Mutation_p.Q172R	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	172	Cytoplasmic (Potential).				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			ovary(1)	1	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)		CAGGACAAGCAGCTCCATGCC	0.567													G	12057394	A	G	12057394	3	3	189	1	0	0	0	0	1	0	0	0	9524	188	7	3	529	3	MFN2	1	12057394	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	22669	12057394	237193227	47	97904											
MFN2	9927	broad.mit.edu	37	chr1	12065963	12065963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccaagaacagccgtcGggccttgatgggctacaatg	14	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:12065963G>A	uc001atn.3	+	15	2144	c.1691G>A	c.(1690-1692)CGG>CAG	p.R564Q	MFN2_uc009vni.2_Missense_Mutation_p.R564Q	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	564	Cytoplasmic (Potential).				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	p.R564W(1)		ovary(1)	1	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)		AACAGCCGTCGGGCCTTGATG	0.552													A	12065963	G	A	12065963	3	1	189	1	0	0	0	0	1	0	0	0	9524	1116	39	1	1741	1	MFN2	1	12065963	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	8569	12065963	237184658	48	97905											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12248947	12248947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgtgctgcagcaaatgctCgccgggtgagggcagccacg	16	11	0	1	rs139221787		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:12248947C>T	uc001att.2	+	2	262	c.173C>T	c.(172-174)TCG>TTG	p.S58L	TNFRSF1B_uc001atu.2_Intron|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	58	Extracellular (Potential).|TNFR-Cys 1.				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	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)	AGCAAATGCTCGCCGGGTGAG	0.617													T	12248947	C	T	12248947	3	4	189	1	0	0	0	0	1	0	0	0	16291	893	31	1	179	1	TNFRSF1B	1	12248947	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	182984	12248947	237001674	49	97906											
VPS13D	55187	broad.mit.edu	37	chr1	12336565	12336565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgagagcaatggccggTacatttctgtgctcaaggtg	14	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:12336565T>C	uc001atv.2	+	19	3061	c.2920T>C	c.(2920-2922)TAC>CAC	p.Y974H	VPS13D_uc001atw.2_Missense_Mutation_p.Y974H|VPS13D_uc001atx.2_Missense_Mutation_p.Y162H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	974					protein localization					ovary(4)|pancreas(1)	5	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)		CAATGGCCGGTACATTTCTGT	0.507											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	12336565	T	C	12336565	3	2	189	1	0	0	0	0	1	0	0	0	17189	1638	57	3	2990	3	VPS13D	1	12336565	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	87618	12336565	236914056	50	97907											
PRAMEF1	65121	broad.mit.edu	37	chr1	12856081	12856081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagaggatcttcattggccCcaccccctgcccttcctgtg	8	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:12856081C>A	uc001auj.1	+	4	1464	c.1361C>A	c.(1360-1362)CCC>CAC	p.P454H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	454											0	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)		TTCATTGGCCCCACCCCCTGC	0.562													A	12856081	C	A	12856081	3	1	189	1	0	0	0	0	1	0	0	0	12425	623	22	5	1371	5	PRAMEF1	1	12856081	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	519516	12856081	236394540	51	97908											
PRAMEF16	654348	broad.mit.edu	37	chr1	13497743	13497743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagctctgctagagaaagTtgctgctactctcgagatcc	11	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:13497743T>C	uc001aux.2	+	3	1070	c.1040T>C	c.(1039-1041)GTT>GCT	p.V347A		NM_001045480	NP_001038945	Q5VWM1	PRA16_HUMAN	PRAME family member 16	347											0	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)		CTAGAGAAAGTTGCTGCTACT	0.542													C	13497743	T	C	13497743	3	2	189	1	0	0	0	0	1	0	0	0	12431	1725	60	3	1050	3	PRAMEF16	1	13497743	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	641662	13497743	235752878	52	97909											
PRDM2	7799	broad.mit.edu	37	chr1	14108560	14108560	+	Frame_Shift_Del	DEL	A	A	-													tcaaattaaatgcattgaagAaaaaaaatcagctagtacag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:14108559_14108559GA>G	uc001avi.3	+	7	5125	c.4269_4269GA>G	c.(4267-4269)aagfs	p.K1423fs	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Frame_Shift_Del_p.K1423fs|PRDM2_uc001avk.3_Frame_Shift_Del_p.K1222fs|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1423	Arg/Lys-rich (basic).					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)		ATGCATTGAAGAAAAAAAATC	0.393													-	14108560	A	-	14108560	7	5	189	1	0	1	0	1	0	0	0	0	12458	247	9	0	4296	0	PRDM2	1	14108560	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	610817	14108560	235142061	53	97910											
CELA2B	51032	broad.mit.edu	37	chr1	15817807	15817807	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgattgcaaataactaAccaaaagaagtccctgggac	9	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:15817807A>G	uc001awl.2	+	8	835	c.810A>G	c.(808-810)TAA>TAG	p.*270*	CASP9_uc001awm.1_3'UTR	NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	270					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CAAATAACTAACCAAAAGAAG	0.428													G	15817807	A	G	15817807	2	3	189	1	0	0	0	0	0	0	0	1	3212	50	2	3		3	CELA2B	1	15817807	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1709247	15817807	233432814	54	97911											
TMEM82	388595	broad.mit.edu	37	chr1	16069351	16069351	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcggggcccttggagTcttggtcctgaacagcctcc	12	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:16069351T>A	uc001axc.2	+	2	248	c.110T>A	c.(109-111)GTC>GAC	p.V37D		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	37	Leu-rich.|Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCTTGGAGTCTTGGTCCTG	0.642													A	16069351	T	A	16069351	3	1	189	1	0	0	0	0	1	0	0	0	16203	1667	58	5	116	5	TMEM82	1	16069351	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	251544	16069351	233181270	55	97912											
SPEN	23013	broad.mit.edu	37	chr1	16257562	16257562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccaaagaggttgagaaAcaggaagatacagagaatca	10	6	1	4	rs139671958	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:16257562A>G	uc001axk.1	+	11	5031	c.4827A>G	c.(4825-4827)AAA>AAG	p.K1609K	SPEN_uc010obp.1_Silent_p.K1568K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1609	Potential.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		AGGTTGAGAAACAGGAAGATA	0.433													G	16257562	A	G	16257562	2	3	189	1	0	0	0	0	0	0	0	1	15037	40	2	3		3	SPEN	1	16257562	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	188211	16257562	232993059	56	97913											
ZBTB17	7709	broad.mit.edu	37	chr1	16271569	16271569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcattctcgttctcctCgggggcctctccgttctcca	7	18	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:16271569C>T	uc001axl.3	-	7	1029	c.790G>A	c.(790-792)GAG>AAG	p.E264K	ZBTB17_uc010obq.1_Missense_Mutation_p.E181K|ZBTB17_uc010obr.1_Missense_Mutation_p.E264K|ZBTB17_uc010obs.1_Missense_Mutation_p.E188K|ZBTB17_uc010obt.1_Missense_Mutation_p.E201K|ZBTB17_uc010obu.1_Missense_Mutation_p.E188K|ZBTB17_uc009vom.1_Missense_Mutation_p.E207K	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	264					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		TCGTTCTCCTCGGGGGCCTCT	0.557													T	16271569	C	T	16271569	3	4	189	1	0	0	0	0	1	0	0	0	17524	893	31	1	1661	1	ZBTB17	1	16271569	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	14007	16271569	232979052	57	97914											
EPHA2	1969	broad.mit.edu	37	chr1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-													acactcggctctgctgcggcGgggggatgctccaggagacg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	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)	TCTGCTGCGGCGGGGGGATGC	0.662													-	16462199	G	-	16462199	7	5	189	1	0	1	0	1	0	0	0	0	5167	1116	39	0	1599	0	EPHA2	1	16462199	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	190630	16462199	232788422	58	97915											
FBXO42	54455	broad.mit.edu	37	chr1	16577504	16577504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatctccttgggcaggCcctgggcgagggatgggcac	16	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:16577504C>T	uc001ayg.2	-	10	2031	c.1815G>A	c.(1813-1815)GGG>GGA	p.G605G	FBXO42_uc001aye.3_Silent_p.G323G|FBXO42_uc001ayf.2_Silent_p.G512G	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	605										upper_aerodigestive_tract(1)|skin(1)	2		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)		CTTGGGCAGGCCCTGGGCGAG	0.592													T	16577504	C	T	16577504	2	4	189	1	0	0	0	0	0	0	0	1	5751	726	26	2		2	FBXO42	1	16577504	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	115305	16577504	232673117	59	97916											
NBPF1	55672	broad.mit.edu	37	chr1	16895594	16895594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacagccatgcagactTgctgttcctctaatgagtga	9	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:16895594T>C	uc009vos.1	-	23	3476	c.2588A>G	c.(2587-2589)CAA>CGA	p.Q863R	NBPF1_uc009vot.1_Missense_Mutation_p.Q321R|NBPF1_uc001ayz.1_Missense_Mutation_p.Q321R|NBPF1_uc010oce.1_Missense_Mutation_p.Q592R	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	863	NBPF 4.					cytoplasm					0				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)		CATGCAGACTTGCTGTTCCTC	0.483													C	16895594	T	C	16895594	3	2	189	1	0	0	0	0	1	0	0	0	10192	1812	63	3	864	3	NBPF1	1	16895594	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	318090	16895594	232355027	60	97917											
RCC2	55920	broad.mit.edu	37	chr1	17749323	17749323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtcccagctgccccttcTcatttcgacctgcagatcac	6	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:17749323T>C	uc001bal.2	-	4	580	c.533A>G	c.(532-534)GAG>GGG	p.E178G	RCC2_uc001bam.2_Missense_Mutation_p.E178G	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	178	RCC1 2.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|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;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTGCCCCTTCTCATTTCGACC	0.532													C	17749323	T	C	17749323	3	2	189	1	0	0	0	0	1	0	0	0	13174	1551	54	3	1071	3	RCC2	1	17749323	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	853729	17749323	231501298	61	97918											
ACTL8	81569	broad.mit.edu	37	chr1	18149614	18149614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcgtgaactacctaccGtgcaaggagaaccctggccc	9	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:18149614G>A	uc001bat.2	+	2	327	c.111G>A	c.(109-111)CCG>CCA	p.P37P		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	37						cytoplasm|cytoskeleton				ovary(4)	4		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)		ACTACCTACCGTGCAAGGAGA	0.587													A	18149614	G	A	18149614	2	1	189	1	0	0	0	0	0	0	0	1	202	1132	40	1		1	ACTL8	1	18149614	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	400291	18149614	231101007	62	97919											
PAX7	5081	broad.mit.edu	37	chr1	19018395	19018395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccactacccagacatatAcacccgcgaggagctggcgc	10	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:19018395A>G	uc001bay.2	+	5	1332	c.734A>G	c.(733-735)TAC>TGC	p.Y245C	PAX7_uc001baz.2_Missense_Mutation_p.Y243C|PAX7_uc010oct.1_Missense_Mutation_p.Y245C	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	245	Homeobox.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		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)		CCAGACATATACACCCGCGAG	0.612			T	FOXO1A	alveolar rhabdomyosarcoma								G	19018395	A	G	19018395	3	3	189	1	0	0	0	0	1	0	0	0	11484	391	14	3	752	3	PAX7	1	19018395	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	868781	19018395	230232226	63	97920											
PAX7	5081	broad.mit.edu	37	chr1	19029776	19029776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatgaacccggtcagcaacGgcctgtctcctcaggtaggt	11	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:19029776G>T	uc001bay.2	+	7	1739	c.1141G>T	c.(1141-1143)GGC>TGC	p.G381C	PAX7_uc001baz.2_Missense_Mutation_p.G379C|PAX7_uc010oct.1_Missense_Mutation_p.G381C	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	381					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		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)		GGTCAGCAACGGCCTGTCTCC	0.622			T	FOXO1A	alveolar rhabdomyosarcoma								T	19029776	G	T	19029776	3	4	189	1	0	0	0	0	1	0	0	0	11484	1116	39	5	1167	5	PAX7	1	19029776	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	11381	19029776	230220845	64	97921											
ALDH4A1	8659	broad.mit.edu	37	chr1	19201970	19201970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcatccgggtagacgtAcacagacagtacaggcccga	11	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:19201970A>G	uc001bbb.2	-	13	1642	c.1366T>C	c.(1366-1368)TAC>CAC	p.Y456H	ALDH4A1_uc010ocu.1_Missense_Mutation_p.Y396H|ALDH4A1_uc001bbc.2_Missense_Mutation_p.Y456H	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	456					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GGGTAGACGTACACAGACAGT	0.622											OREG0013164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	19201970	A	G	19201970	3	3	189	1	0	0	0	0	1	0	0	0	501	391	14	3	337	3	ALDH4A1	1	19201970	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	172194	19201970	230048651	65	97922											
UBR4	23352	broad.mit.edu	37	chr1	19449347	19449347	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggctgatgagtgtgtcatAttgcaaggcggagcctgagc	15	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:19449347A>T	uc001bbi.2	-	66	9800	c.9796T>A	c.(9796-9798)TAT>AAT	p.Y3266N	UBR4_uc001bbk.1_Missense_Mutation_p.Y913N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3266					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		AGTGTGTCATATTGCAAGGCG	0.567													T	19449347	A	T	19449347	3	4	189	1	0	0	0	0	1	0	0	0	16901	449	16	5	5919	5	UBR4	1	19449347	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	247377	19449347	229801274	66	97923											
KIF17	57576	broad.mit.edu	37	chr1	21009336	21009336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaggtccttgttcttgGcctgctctccacccacaacc	6	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:21009336G>A	uc001bdr.3	-	11	2391	c.2273C>T	c.(2272-2274)GCC>GTC	p.A758V	KIF17_uc001bdp.3_Missense_Mutation_p.A36V|KIF17_uc001bdq.3_Missense_Mutation_p.A36V|KIF17_uc009vpx.2_Missense_Mutation_p.A128V|KIF17_uc001bds.3_Missense_Mutation_p.A758V	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	758	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		CTTGTTCTTGGCCTGCTCTCC	0.602													A	21009336	G	A	21009336	3	1	189	1	0	0	0	0	1	0	0	0	8279	1203	42	2	836	2	KIF17	1	21009336	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1559989	21009336	228241285	67	97924											
HP1BP3	50809	broad.mit.edu	37	chr1	21083671	21083671	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctaacctggaatgtcccCgaagcacctttgccagttat	7	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:21083671C>A	uc001bdw.1	-	9	1109	c.969G>T	c.(967-969)TCG>TCT	p.S323S	HP1BP3_uc001bdv.1_Silent_p.S285S|HP1BP3_uc010odh.1_Silent_p.S285S|HP1BP3_uc001bdy.1_Silent_p.S323S|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Silent_p.S322S|HP1BP3_uc010odf.1_5'UTR|HP1BP3_uc010odg.1_Silent_p.S171S	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	323	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		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)		GGAATGTCCCCGAAGCACCTT	0.343													A	21083671	C	A	21083671	2	1	189	1	0	0	0	0	0	0	0	1	7328	639	23	5		5	HP1BP3	1	21083671	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	74335	21083671	228166950	68	97925											
RAP1GAP	5909	broad.mit.edu	37	chr1	21938061	21938061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgtgggtcacgtccaGgcctcctcggaacctgcccc	11	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:21938061G>T	uc001bex.2	-	13	985	c.727C>A	c.(727-729)CTG>ATG	p.L243M	RAP1GAP_uc001bev.2_Missense_Mutation_p.L243M|RAP1GAP_uc001bew.2_Missense_Mutation_p.L307M|RAP1GAP_uc001bey.2_Missense_Mutation_p.L243M	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	243	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)|ovary(1)	3		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)		GTCACGTCCAGGCCTCCTCGG	0.662													T	21938061	G	T	21938061	3	4	189	1	0	0	0	0	1	0	0	0	13037	991	35	5	1394	5	RAP1GAP	1	21938061	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	854390	21938061	227312560	69	97926											
HSPG2	3339	broad.mit.edu	37	chr1	22169859	22169859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagggtgcctgagcttcCggtcacttggcacgagtact	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:22169859C>T	uc001bfj.2	-	66	8729	c.8689G>A	c.(8689-8691)GGA>AGA	p.G2897R	HSPG2_uc009vqd.2_Missense_Mutation_p.G2898R	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2897	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CCTGAGCTTCCGGTCACTTGG	0.642													T	22169859	C	T	22169859	3	4	189	1	0	0	0	0	1	0	0	0	7430	661	23	1	4614	1	HSPG2	1	22169859	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	231798	22169859	227080762	70	97927											
HSPG2	3339	broad.mit.edu	37	chr1	22179505	22179505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttcagatccagggtctgCccttccgccacgtgtgagga	12	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:22179505C>T	uc001bfj.2	-	51	6538	c.6498G>A	c.(6496-6498)GGG>GGA	p.G2166G	HSPG2_uc009vqd.2_Silent_p.G2167G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2166	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CCAGGGTCTGCCCTTCCGCCA	0.697													T	22179505	C	T	22179505	2	4	189	1	0	0	0	0	0	0	0	1	7430	726	26	2		2	HSPG2	1	22179505	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	9646	22179505	227071116	71	97928											
EPHA8	2046	broad.mit.edu	37	chr1	22902826	22902826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagctgggtcccccgagaCggcgcccggcgcgtctatgc	15	16	1	1	rs145476843	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:22902826C>T	uc001bfx.1	+	3	401	c.276C>T	c.(274-276)GAC>GAT	p.D92D	EPHA8_uc001bfw.2_Silent_p.D92D	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	92	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		TCCCCCGAGACGGCGCCCGGC	0.607													T	22902826	C	T	22902826	2	4	189	1	0	0	0	0	0	0	0	1	5173	535	19	1		1	EPHA8	1	22902826	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	723321	22902826	226347795	72	97929											
EPHA8	2046	broad.mit.edu	37	chr1	22927263	22927263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgtgggaggtgctggCctatggggagcggccctact	18	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:22927263C>T	uc001bfx.1	+	14	2623	c.2498C>T	c.(2497-2499)GCC>GTC	p.A833V		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	833	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GAGGTGCTGGCCTATGGGGAG	0.682													T	22927263	C	T	22927263	3	4	189	1	0	0	0	0	1	0	0	0	5173	739	26	2	2725	2	EPHA8	1	22927263	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	24437	22927263	226323358	73	97930											
HTR1D	3352	broad.mit.edu	37	chr1	23520184	23520184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgggccttggcctgccGccagaagagcggggggatgg	18	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:23520184G>A	uc001bgn.2	-	1	1039	c.529C>T	c.(529-531)CGG>TGG	p.R177W		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	177	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		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)	TTGGCCTGCCGCCAGAAGAGC	0.597													A	23520184	G	A	23520184	3	1	189	1	0	0	0	0	1	0	0	0	7438	1086	38	1	608	1	HTR1D	1	23520184	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	592921	23520184	225730437	74	97931											
HNRNPR	10236	broad.mit.edu	37	chr1	23637458	23637458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcttcatagccgtagTaatctggagggtagccatat	10	7	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:23637458T>C	uc001bgr.3	-	11	1550	c.1391A>G	c.(1390-1392)TAC>TGC	p.Y464C	HNRNPR_uc001bgo.2_Missense_Mutation_p.Y74C|HNRNPR_uc001bgp.3_Missense_Mutation_p.Y467C|HNRNPR_uc009vqk.2_Missense_Mutation_p.Y366C|HNRNPR_uc001bgs.3_Missense_Mutation_p.Y363C|HNRNPR_uc010odw.1_Missense_Mutation_p.Y426C|HNRNPR_uc010odx.1_Missense_Mutation_p.Y304C|HNRNPR_uc009vql.2_Missense_Mutation_p.Y325C	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	464	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.|1; approximate.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		ATAGCCGTAGTAATCTGGAGG	0.468													C	23637458	T	C	23637458	3	2	189	1	0	0	0	0	1	0	0	0	7272	1638	57	3	514	3	HNRNPR	1	23637458	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	117274	23637458	225613163	75	97932											
TCEA3	6920	broad.mit.edu	37	chr1	23710913	23710914	+	Splice_Site	DEL	GA	GA	-													agcactgcgtgtctgcacctGagagagagaagaaccactca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:23710912_23710913TGA>T	uc021oig.1	-	10	1102	c.967_splice	c.e10-1	p.V323_splice	TCEA3_uc009vqm.2_Intron	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	323					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)		TGTCTGCACCTGAGAGAGAGAA	0.495													-	23710914	GA	-	23710913	8	5	189	1	0	1	0	1	0	0	1	0	15666	1305	45	0		0	TCEA3	1	23710913	Splice_Site	DEL	GA	TCGA-CG-5721-01A-11D-1600-08	73455	23710913	225539708	76	97933											
TCEB3	6924	broad.mit.edu	37	chr1	24077589	24077589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaatgtcaccaacttActcttcagaccctgagtctt	5	13	5	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:24077589A>G	uc001bho.2	+	4	632	c.572A>G	c.(571-573)TAC>TGC	p.Y191C		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	191					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			ovary(1)	1		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)		TCACCAACTTACTCTTCAGAC	0.483											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	24077589	A	G	24077589	3	3	189	1	0	0	0	0	1	0	0	0	15678	391	14	3	586	3	TCEB3	1	24077589	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	366676	24077589	225173032	77	97934											
MYOM3	127294	broad.mit.edu	37	chr1	24411132	24411132	+	Splice_Site	DEL	A	A	-													ctggaggagggagggtagctAaaaaatagaaacatgggctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:24411131_24411131TA>T	uc001bin.4	-	16	1962	c.1799_splice	c.e16-1	p.A600_splice	MYOM3_uc001bim.4_Splice_Site_p.A257_splice|MYOM3_uc001bio.3_Splice_Site_p.A600_splice|MYOM3_uc001bip.1_Intron	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	600										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)		GGAGGGTAGCTAAAAAATAGA	0.542													-	24411132	A	-	24411132	8	5	189	1	0	1	0	1	0	0	1	0	10093	377	13	0		0	MYOM3	1	24411132	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	333543	24411132	224839489	78	97935											
NIPAL3	57185	broad.mit.edu	37	chr1	24776017	24776017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtttggctgtcgtgggTacctacctgctggtgacatt	14	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:24776017T>C	uc001bjh.2	+	6	848	c.441T>C	c.(439-441)GGT>GGC	p.G147G	NIPAL3_uc010oek.1_Silent_p.G147G|NIPAL3_uc001bjg.2_Silent_p.G147G|NIPAL3_uc009vrc.2_Silent_p.G65G	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	147	Helical; (Potential).					integral to membrane					0						CTGTCGTGGGTACCTACCTGC	0.557													C	24776017	T	C	24776017	2	2	189	1	0	0	0	0	0	0	0	1	10426	1625	57	3		3	NIPAL3	1	24776017	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	364885	24776017	224474604	79	97936											
TMEM50A	23585	broad.mit.edu	37	chr1	25678158	25678158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagtccgaggtgatagttAcagtgaaggttgtctgggtc	14	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:25678158A>G	uc001bke.2	+	4	398	c.248A>G	c.(247-249)TAC>TGC	p.Y83C	TMEM50A_uc010oeq.1_Missense_Mutation_p.Y83C|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA	NM_014313	NP_055128	O95807	TM50A_HUMAN	small membrane protein 1	83						endoplasmic reticulum|integral to membrane					0		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;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GGTGATAGTTACAGTGAAGGT	0.368													G	25678158	A	G	25678158	3	3	189	1	0	0	0	0	1	0	0	0	16172	391	14	3	258	3	TMEM50A	1	25678158	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	902141	25678158	223572463	80	97937											
RHCE	6006	broad.mit.edu	37	chr1	25715467	25715467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagttgtctagtttcttacCggcaggcacttggctccccc	9	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:25715467C>T	uc001bkf.2	-	6	1025	c.939G>A	c.(937-939)CCG>CCA	p.P313P	RHCE_uc001bkg.2_Silent_p.P313P|RHCE_uc001bkh.2_Silent_p.P208P|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Silent_p.P297P	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	313						integral to plasma membrane					0		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)		AGTTTCTTACCGGCAGGCACT	0.592													T	25715467	C	T	25715467	2	4	189	1	0	0	0	0	0	0	0	1	13325	666	23	1		1	RHCE	1	25715467	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	37309	25715467	223535154	81	97938											
TMEM57	55219	broad.mit.edu	37	chr1	25775373	25775373	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcatccccatacagtgGcttttttttgctgctagcac	7	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:25775373G>A	uc001bkk.2	+	3	499	c.297G>A	c.(295-297)TGG>TGA	p.W99*	TMEM57_uc009vru.2_Nonsense_Mutation_p.W99*|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	99						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CCATACAGTGGCTTTTTTTTG	0.343													A	25775373	G	A	25775373	4	1	189	1	0	0	0	0	0	1	0	0	16181	1212	42	2	307	2	TMEM57	1	25775373	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	59906	25775373	223475248	82	97939											
TMEM57	55219	broad.mit.edu	37	chr1	25812245	25812245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaagaagttagaagaAgccactgctgcccgggctgt	14	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:25812245A>G	uc001bkk.2	+	8	1657	c.1455A>G	c.(1453-1455)GAA>GAG	p.E485E	TMEM57_uc009vru.2_Silent_p.E258E|TMEM57_uc009vrv.2_Silent_p.E127E	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	485						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTAGAAGAAGCCACTGCTG	0.448													G	25812245	A	G	25812245	2	3	189	1	0	0	0	0	0	0	0	1	16181	69	3	3		3	TMEM57	1	25812245	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	36872	25812245	223438376	83	97940											
SEPN1	57190	broad.mit.edu	37	chr1	26135246	26135246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggctacctgtccaacaAccgcttctatccaccgccgc	6	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:26135246A>G	uc010oer.1	+	7	768	c.713A>G	c.(712-714)AAC>AGC	p.N238S	SEPN1_uc010oes.1_Missense_Mutation_p.N204S	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	238						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		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)		CTGTCCAACAACCGCTTCTAT	0.667													G	26135246	A	G	26135246	3	3	189	1	0	0	0	0	1	0	0	0	14056	43	2	3	731	3	SEPN1	1	26135246	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	323001	26135246	223115375	84	97941											
FAM54B	56181	broad.mit.edu	37	chr1	26156176	26156176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccctgctttgttctgccAgccctgaatgttgcaaacca	7	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:26156176A>G	uc001bkq.3	+	6	838	c.628A>G	c.(628-630)AGC>GGC	p.S210G	FAM54B_uc001bkr.3_Silent_p.P173P|FAM54B_uc010oet.1_Missense_Mutation_p.S243G|FAM54B_uc009vrz.2_Missense_Mutation_p.S195G|FAM54B_uc001bks.3_Missense_Mutation_p.S210G|FAM54B_uc001bkt.3_Missense_Mutation_p.S210G|FAM54B_uc001bku.3_Silent_p.P170P|FAM54B_uc001bkv.3_Missense_Mutation_p.S113G	NM_001099625	NP_001093095	Q9H019	FA54B_HUMAN	hypothetical protein LOC56181 isoform a	210										pancreas(1)	1		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|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;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTTCTGCCAGCCCTGAATG	0.512													G	26156176	A	G	26156176	3	3	189	1	0	0	0	0	1	0	0	0	5583	188	7	3	646	3	FAM54B	1	26156176	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20930	26156176	223094445	85	97942											
C1orf135	79000	broad.mit.edu	37	chr1	26162053	26162053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaaaagccagtggggTatgactatctccagcacagt	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:26162053T>C	uc001bkw.1	-	3	505	c.505A>G	c.(505-507)ACC>GCC	p.T169A		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	169											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGTGGGGTATGACTATCT	0.483													C	26162053	T	C	26162053	3	2	189	1	0	0	0	0	1	0	0	0	1999	1638	57	3	572	3	C1orf135	1	26162053	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5877	26162053	223088568	86	97943											
STMN1	3925	broad.mit.edu	37	chr1	26228173	26228173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacctcagcttcatgggActggaaaaaaaagtttaata	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:26228173A>G	uc001bkz.2	-	4	551	c.187T>C	c.(187-189)TCC>CCC	p.S63P	STMN1_uc010oev.1_Missense_Mutation_p.S63P|STMN1_uc001bla.2_Missense_Mutation_p.S63P|STMN1_uc001blb.2_Missense_Mutation_p.S63P|STMN1_uc001blc.2_Missense_Mutation_p.S63P	NM_203401	NP_981946	P16949	STMN1_HUMAN	stathmin 1 isoform a	63	Potential.				cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|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;1.85e-25)|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;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCATGGGACTGGAAAAAA	0.294													G	26228173	A	G	26228173	3	3	189	1	0	0	0	0	1	0	0	0	15307	289	10	3	421	3	STMN1	1	26228173	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	66120	26228173	223022448	87	97944											
CATSPER4	378807	broad.mit.edu	37	chr1	26517331	26517331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaatcacgaacaaagcGgtaaggatagctctcgcccc	10	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:26517331G>A	uc010oez.1	+	1	213	c.213G>A	c.(211-213)GCG>GCA	p.A71A	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	71	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		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)		CGAACAAAGCGGTAAGGATAG	0.612													A	26517331	G	A	26517331	2	1	189	1	0	0	0	0	0	0	0	1	2690	1130	39	1		1	CATSPER4	1	26517331	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	289158	26517331	222733290	88	97945											
CCDC21	64793	broad.mit.edu	37	chr1	26582109	26582109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacaagtaaggagttgtAcagagtgttgcctgaggcca	13	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:26582109A>G	uc001bls.1	+	4	787	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	CCDC21_uc001blr.2_Missense_Mutation_p.Y219C|CCDC21_uc010ofa.1_Missense_Mutation_p.Y168C	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	219						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGAGTTGTACAGAGTGTTG	0.537													G	26582109	A	G	26582109	3	3	189	1	0	0	0	0	1	0	0	0	2796	391	14	3	666	3	CCDC21	1	26582109	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	64778	26582109	222668512	89	97946											
LIN28A	79727	broad.mit.edu	37	chr1	26751895	26751895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatccatccgtgtcacCggacctggtggagtattctg	12	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:26751895C>T	uc001bmj.2	+	3	444	c.330C>T	c.(328-330)ACC>ACT	p.T110T	LIN28A_uc001bmi.1_RNA	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	lin-28 homolog	110	CSD.				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)	1						TCCGTGTCACCGGACCTGGTG	0.527													T	26751895	C	T	26751895	2	4	189	1	0	0	0	0	0	0	0	1	8805	639	23	1		1	LIN28A	1	26751895	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	169786	26751895	222498726	90	97947											
ARID1A	8289	broad.mit.edu	37	chr1	27057924	27057924	+	Frame_Shift_Del	DEL	C	C	-													cagtcgacgacacagcagcaCccccagagccagccccccta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:27057923_27057923AC>A	uc001bmv.1	+	2	2004	c.1631_1631AC>A	c.(1630-1632)cacfs	p.H544fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.H544fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.H544fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.H161fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	544					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q543*(3)|p.Q543fs*79(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)		ACACAGCAGCACCCCCAGAGC	0.647			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27057924	C	-	27057924	7	5	189	1	0	1	0	1	0	0	0	0	913	506	18	0	1642	0	ARID1A	1	27057924	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	306029	27057924	222192697	91	97948											
C1orf172	126695	broad.mit.edu	37	chr1	27278358	27278358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccctcgggtagggatAcacagggatgcctttgagct	16	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:27278358A>G	uc001bni.1	-	2	603	c.514T>C	c.(514-516)TAT>CAT	p.Y172H		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	172										large_intestine(1)|ovary(1)	2		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)		GGGTAGGGATACACAGGGATG	0.652													G	27278358	A	G	27278358	3	3	189	1	0	0	0	0	1	0	0	0	2013	391	14	3	694	3	C1orf172	1	27278358	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	220434	27278358	221972263	92	97949											
WDTC1	23038	broad.mit.edu	37	chr1	27609836	27609836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgctttcagcttgctgGcctctggttccgatgaccag	10	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:27609836G>A	uc009vst.2	+	5	722	c.187G>A	c.(187-189)GCC>ACC	p.A63T	WDTC1_uc001bno.2_Missense_Mutation_p.A63T|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	63	WD 1.						protein binding			ovary(1)|central_nervous_system(1)	2		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)		CAGCTTGCTGGCCTCTGGTTC	0.517													A	27609836	G	A	27609836	3	1	189	1	0	0	0	0	1	0	0	0	17339	1203	42	2	201	2	WDTC1	1	27609836	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	331478	27609836	221640785	93	97950											
WASF2	10163	broad.mit.edu	37	chr1	27744873	27744873	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcaaaaagcttctggtcttGaatggtggaacttctgaagg	12	6	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:27744873G>A	uc001bof.1	-	4	532	c.316C>T	c.(316-318)CAA>TAA	p.Q106*	WASF2_uc010ofl.1_Nonsense_Mutation_p.Q106*	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	106					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		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)		TTCTGGTCTTGAATGGTGGAA	0.453													A	27744873	G	A	27744873	4	1	189	1	0	0	0	0	0	1	0	0	17250	1299	45	4	1204	4	WASF2	1	27744873	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	135037	27744873	221505748	94	97951											
AHDC1	27245	broad.mit.edu	37	chr1	27875206	27875206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggagatgtccaggatcaCgttgggctcgctgacgtggc	16	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:27875206C>T	uc009vsy.2	-	6	4390	c.3421G>A	c.(3421-3423)GTG>ATG	p.V1141M	AHDC1_uc009vsz.1_Missense_Mutation_p.V1141M	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1141							DNA binding			central_nervous_system(1)	1		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)		TCCAGGATCACGTTGGGCTCG	0.577													T	27875206	C	T	27875206	3	4	189	1	0	0	0	0	1	0	0	0	412	536	19	1	1394	1	AHDC1	1	27875206	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	130333	27875206	221375415	95	97952											
C1orf38	9473	broad.mit.edu	37	chr1	28209163	28209163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccggcgctacagcctggCagatctgactgcccagtttt	11	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:28209163C>T	uc001bpc.3	+	4	1356	c.1328C>T	c.(1327-1329)GCA>GTA	p.A443V	C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Missense_Mutation_p.A247V|C1orf38_uc010ofo.1_Missense_Mutation_p.A314V	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	basement membrane-induced gene isoform 3	443	CABIT 2.				cell adhesion|inflammatory response					ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|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;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-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;0.0649)		TACAGCCTGGCAGATCTGACT	0.622													T	28209163	C	T	28209163	3	4	189	1	0	0	0	0	1	0	0	0	2039	710	25	2	1342	2	C1orf38	1	28209163	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	333957	28209163	221041458	96	97953											
RCC1	1104	broad.mit.edu	37	chr1	28862498	28862498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccatctcccatgagggCcacgtgtacggcttcggcct	11	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:28862498C>T	uc001bqg.1	+	7	862	c.777C>T	c.(775-777)GGC>GGT	p.G259G	SNHG3-RCC1_uc001bqa.1_Silent_p.G259G|SNHG3-RCC1_uc001bqb.1_Silent_p.G259G|SNHG3-RCC1_uc001bqc.1_Silent_p.G259G|RCC1_uc001bqe.1_Silent_p.G276G|RCC1_uc001bqf.1_Silent_p.G290G	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	259	RCC1 5.				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			ovary(1)	1		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)		CCCATGAGGGCCACGTGTACG	0.507													T	28862498	C	T	28862498	2	4	189	1	0	0	0	0	0	0	0	1	13173	726	26	2		2	RCC1	1	28862498	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	653335	28862498	220388123	97	97954											
YTHDF2	51441	broad.mit.edu	37	chr1	29070470	29070470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcacactatgagaaacGccaagaggaagaagaaagtg	10	8	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:29070470G>A	uc001brc.2	+	4	2185	c.1688G>A	c.(1687-1689)CGC>CAC	p.R563H	YTHDF2_uc001brd.2_Missense_Mutation_p.R560H|YTHDF2_uc010ofx.1_Missense_Mutation_p.R513H|YTHDF2_uc001bre.2_Missense_Mutation_p.R513H	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	563					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-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)		TATGAGAAACGCCAAGAGGAA	0.398													A	29070470	G	A	29070470	3	1	189	1	0	0	0	0	1	0	0	0	17496	1087	38	1	1702	1	YTHDF2	1	29070470	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	207972	29070470	220180151	98	97955											
PTPRU	10076	broad.mit.edu	37	chr1	29642617	29642617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctacaaggagatgatccGcattgatcctcagagtaatt	8	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:29642617G>A	uc001bru.2	+	25	3607	c.3497G>A	c.(3496-3498)CGC>CAC	p.R1166H	PTPRU_uc001brv.2_Missense_Mutation_p.R1162H|PTPRU_uc001brw.2_Missense_Mutation_p.R1156H|PTPRU_uc009vtq.2_Missense_Mutation_p.R1162H|PTPRU_uc009vtr.2_Missense_Mutation_p.R1153H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1166	Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		GAGATGATCCGCATTGATCCT	0.423													A	29642617	G	A	29642617	3	1	189	1	0	0	0	0	1	0	0	0	12813	1087	38	1	3617	1	PTPRU	1	29642617	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	572147	29642617	219608004	99	97956											
SDC3	9672	broad.mit.edu	37	chr1	31351566	31351566	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgggtctctcgaagtTctcactgcgccagcgctggg	13	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:31351566T>G	uc001bse.2	-	2	207	c.160A>C	c.(160-162)AAC>CAC	p.N54H	SDC3_uc001bsd.2_5'UTR	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	54	Extracellular (Potential).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		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)		CTCTCGAAGTTCTCACTGCGC	0.637													G	31351566	T	G	31351566	3	3	189	1	0	0	0	0	1	0	0	0	13953	1783	62	5	1184	5	SDC3	1	31351566	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1708949	31351566	217899055	100	97957											
PUM1	9698	broad.mit.edu	37	chr1	31532150	31532150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaagctgctcaccatgCtgcctctgaaagaagtagtc	8	15	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:31532150C>T	uc001bsi.1	-	2	377	c.264G>A	c.(262-264)CAG>CAA	p.Q88Q	PUM1_uc001bsh.1_Silent_p.Q88Q|PUM1_uc001bsj.1_Silent_p.Q88Q|PUM1_uc010oga.1_Silent_p.Q88Q|PUM1_uc001bsk.1_Silent_p.Q124Q|PUM1_uc010ogb.1_Silent_p.Q124Q	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	88					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		GCTCACCATGCTGCCTCTGAA	0.542													T	31532150	C	T	31532150	2	4	189	1	0	0	0	0	0	0	0	1	12825	796	28	2		2	PUM1	1	31532150	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	180584	31532150	217718471	101	97958											
SERINC2	347735	broad.mit.edu	37	chr1	31899570	31899570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgatgttcatgtactAcactgagcccagcggctgcc	12	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:31899570A>G	uc010ogh.1	+	6	893	c.692A>G	c.(691-693)TAC>TGC	p.Y231C	SERINC2_uc010ogg.1_Missense_Mutation_p.Y228C|SERINC2_uc001bst.2_Missense_Mutation_p.Y227C|SERINC2_uc001bsu.2_Missense_Mutation_p.Y172C|SERINC2_uc001bsv.2_Missense_Mutation_p.Y172C	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	227						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TTCATGTACTACACTGAGCCC	0.592													G	31899570	A	G	31899570	3	3	189	1	0	0	0	0	1	0	0	0	14080	391	14	3	702	3	SERINC2	1	31899570	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	367420	31899570	217351051	102	97959											
BAI2	576	broad.mit.edu	37	chr1	32221679	32221679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtggggctgggcccccGggcaccagggcattggacag	19	12	0	0	rs139265180		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:32221679G>A	uc001btn.2	-	4	1113	c.759C>T	c.(757-759)CCC>CCT	p.P253P	BAI2_uc010ogp.1_Silent_p.P241P|BAI2_uc010ogq.1_Silent_p.P253P|BAI2_uc001bto.2_Silent_p.P253P|BAI2_uc001btq.1_Silent_p.P241P|BAI2_uc010ogr.1_Silent_p.P241P	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	253	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGGGCCCCCGGGCACCAGGG	0.662													A	32221679	G	A	32221679	2	1	189	1	0	0	0	0	0	0	0	1	1299	1103	39	1		1	BAI2	1	32221679	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	322109	32221679	217028942	103	97960											
SPOCD1	90853	broad.mit.edu	37	chr1	32256573	32256573	+	Frame_Shift_Del	DEL	C	C	-													tcaggctctggccagagcctCcccctgcctctggggggcct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:32256572_32256572TC>T	uc001bts.1	-	15	3341	c.3283_3283GA>A	c.(3283-3285)aggfs	p.R1095fs	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Frame_Shift_Del_p.R1082fs|SPOCD1_uc001btv.3_Frame_Shift_Del_p.R575fs	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	1095					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)		GGCCAGAGCCTCCCCCTGCCT	0.667													-	32256573	C	-	32256573	7	5	189	1	0	1	0	1	0	0	0	0	15077	842	30	0	372	0	SPOCD1	1	32256573	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	34894	32256573	216994048	104	97961											
CCDC28B	79140	broad.mit.edu	37	chr1	32667684	32667684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgccatcccccaagcagCgggccaagttcaagaggtgg	12	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:32667684C>T	uc001bul.1	+	2	280	c.148C>T	c.(148-150)CGG>TGG	p.R50W	CCDC28B_uc001buk.2_Missense_Mutation_p.R50W	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	50											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCCCAAGCAGCGGGCCAAGTT	0.637													T	32667684	C	T	32667684	3	4	189	1	0	0	0	0	1	0	0	0	2803	759	27	1	150	1	CCDC28B	1	32667684	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	411111	32667684	216582937	105	97962											
IQCC	55721	broad.mit.edu	37	chr1	32673020	32673020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctagaacaggaggatgaCtcctgtcacagggtcaaatc	12	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:32673020C>T	uc001bum.2	+	5	785	c.738C>T	c.(736-738)GAC>GAT	p.D246D	IQCC_uc009vua.2_Silent_p.D326D|IQCC_uc010ogz.1_Silent_p.D146D|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	246										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGAGGATGACTCCTGTCACA	0.542													T	32673020	C	T	32673020	2	4	189	1	0	0	0	0	0	0	0	1	7804	564	20	4		4	IQCC	1	32673020	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5336	32673020	216577601	106	97963											
EIF3I	8668	broad.mit.edu	37	chr1	32694367	32694367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacatcagaagactttcCggacagaacgtcctgtcaac	8	11	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:32694367C>T	uc001bur.3	+	9	1212	c.679C>T	c.(679-681)CGG>TGG	p.R227W	EIF3I_uc009vuc.2_Missense_Mutation_p.R227W|EIF3I_uc001bus.2_Missense_Mutation_p.R179W	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	227						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GAAGACTTTCCGGACAGAACG	0.537													T	32694367	C	T	32694367	3	4	189	1	0	0	0	0	1	0	0	0	5019	643	23	1	709	1	EIF3I	1	32694367	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21347	32694367	216556254	107	97964											
HDAC1	3065	broad.mit.edu	37	chr1	32796452	32796452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttacaccattcgtaacGttgcccggtgctggacatat	11	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:32796452G>A	uc001bvb.1	+	9	985	c.922G>A	c.(922-924)GTT>ATT	p.V308I	HDAC1_uc010ohf.1_Missense_Mutation_p.V279I|HDAC1_uc001bvc.1_Missense_Mutation_p.V64I	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	308	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CATTCGTAACGTTGCCCGGTG	0.562													A	32796452	G	A	32796452	3	1	189	1	0	0	0	0	1	0	0	0	7004	1145	40	1	956	1	HDAC1	1	32796452	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	102085	32796452	216454169	108	97965											
BSDC1	55108	broad.mit.edu	37	chr1	32842196	32842196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgctctctgatggagTcacctctgctgggggctcaa	11	13	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:32842196T>C	uc001bvh.3	-	9	870	c.823A>G	c.(823-825)ACT>GCT	p.T275A	BSDC1_uc010ohg.1_Missense_Mutation_p.T292A|BSDC1_uc010ohh.1_Missense_Mutation_p.T219A|BSDC1_uc010ohi.1_Missense_Mutation_p.T180A|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.T171A|BSDC1_uc001bvi.2_Missense_Mutation_p.T292A	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	275							protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCTGATGGAGTCACCTCTGCT	0.567													C	32842196	T	C	32842196	3	2	189	1	0	0	0	0	1	0	0	0	1528	1667	58	3	481	3	BSDC1	1	32842196	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	45744	32842196	216408425	109	97966											
RBBP4	5928	broad.mit.edu	37	chr1	33117607	33117607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatgatttggtgatgAcccatgctctggagtggccc	11	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:33117607A>G	uc001bvr.2	+	2	268	c.109A>G	c.(109-111)ACC>GCC	p.T37A	ZBTB8OS_uc001bvo.1_5'Flank|ZBTB8OS_uc001bvp.2_5'Flank|ZBTB8OS_uc001bvq.2_5'Flank|RBBP4_uc001bvs.2_Missense_Mutation_p.T36A|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.T2A	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	37					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTTGGTGATGACCCATGCTCT	0.448													G	33117607	A	G	33117607	3	3	189	1	0	0	0	0	1	0	0	0	13101	275	10	3	115	3	RBBP4	1	33117607	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	275411	33117607	216133014	110	97967											
KIAA1522	57648	broad.mit.edu	37	chr1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-													tcttctttcccagtgggcgaCccccccacctggaagagctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:33233494_33233494AC>A	uc001bvu.1	+	1	386	c.342_342AC>A	c.(340-342)cgafs	p.R114fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.R66fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.R55fs|KIAA1522_uc010ohn.1_Frame_Shift_Del_p.R55fs	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	55			S -> P (in dbSNP:rs3737994).							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)				CCAGTGGGCGACCCCCCCACC	0.617													-	33233495	C	-	33233495	7	5	189	1	0	1	0	1	0	0	0	0	8238	507	18	0	349	0	KIAA1522	1	33233495	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	115888	33233495	216017126	111	97968											
RNF19B	127544	broad.mit.edu	37	chr1	33415365	33415365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacagccataggcaaTaacagcataactaggtaagg	11	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:33415365T>C	uc010oho.1	-	2	646	c.646A>G	c.(646-648)ATT>GTT	p.I216V	RNF19B_uc001bwm.3_Missense_Mutation_p.I216V|RNF19B_uc010ohp.1_Missense_Mutation_p.I216V	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	216	IBR-type.					integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCATAGGCAATAACAGCATAA	0.433													C	33415365	T	C	33415365	3	2	189	1	0	0	0	0	1	0	0	0	13471	1406	49	3	1610	3	RNF19B	1	33415365	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	181870	33415365	215835256	112	97969											
ZSCAN20	7579	broad.mit.edu	37	chr1	33956657	33956657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaaccaagtaatacctccGagaaagagcaaggaccagag	9	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:33956657G>A	uc001bxj.3	+	6	966	c.799G>A	c.(799-801)GAG>AAG	p.E267K	ZSCAN20_uc001bxk.2_Missense_Mutation_p.E213K|ZSCAN20_uc009vui.2_Missense_Mutation_p.E267K	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	267					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TAATACCTCCGAGAAAGAGCA	0.438													A	33956657	G	A	33956657	3	1	189	1	0	0	0	0	1	0	0	0	18229	1059	37	1	817	1	ZSCAN20	1	33956657	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	541292	33956657	215293964	113	97970											
ZSCAN20	7579	broad.mit.edu	37	chr1	33956724	33956724	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaggagcactgcagAttacagcctggataatgagc	13	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:33956724A>T	uc001bxj.3	+	6	1033	c.866A>T	c.(865-867)GAT>GTT	p.D289V	ZSCAN20_uc001bxk.2_Missense_Mutation_p.D235V|ZSCAN20_uc009vui.2_Missense_Mutation_p.D289V	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	289					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCACTGCAGATTACAGCCTG	0.478													T	33956724	A	T	33956724	3	4	189	1	0	0	0	0	1	0	0	0	18229	333	12	5	884	5	ZSCAN20	1	33956724	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	67	33956724	215293897	114	97971											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960491	33960491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattctacagaagagacagcTcctgaacaacctcaaagtat	6	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:33960491T>C	uc001bxj.3	+	8	2714	c.2547T>C	c.(2545-2547)GCT>GCC	p.A849A	ZSCAN20_uc009vui.2_Silent_p.A848A	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	849					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGAGACAGCTCCTGAACAAC	0.463													C	33960491	T	C	33960491	2	2	189	1	0	0	0	0	0	0	0	1	18229	1538	54	3		3	ZSCAN20	1	33960491	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3767	33960491	215290130	115	97972											
CSMD2	114784	broad.mit.edu	37	chr1	34128586	34128586	+	Frame_Shift_Del	DEL	G	G	-													gctatgcaggtccttgggcaGggccgggccactcagctcct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:34128585_34128585AG>A	uc001bxm.1	-	25	4337	c.4160_4160CT>T	c.(4159-4161)ctgfs	p.L1387fs	CSMD2_uc001bxn.1_Frame_Shift_Del_p.L1347fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.L260fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1347	Sushi 8.					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)				GTCCTTGGGCAGGGCCGGGCC	0.577													-	34128586	G	-	34128586	7	5	189	1	0	1	0	1	0	0	0	0	3945	991	35	0	6600	0	CSMD2	1	34128586	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	168095	34128586	215122035	116	97973											
CSMD2	114784	broad.mit.edu	37	chr1	34383804	34383804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctcagccaggatggTccatgtgcagtcggcattgt	12	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:34383804T>C	uc001bxn.1	-	5	720	c.691A>G	c.(691-693)ACC>GCC	p.T231A	CSMD2_uc001bxm.1_Missense_Mutation_p.T271A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	231	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCAGGATGGTCCATGTGCAG	0.582													C	34383804	T	C	34383804	3	2	189	1	0	0	0	0	1	0	0	0	3945	1667	58	3	10032	3	CSMD2	1	34383804	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	255218	34383804	214866817	117	97974											
CSMD2	114784	broad.mit.edu	37	chr1	34383824	34383824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtgcagtcggcattgTtatggtactccgaggggaag	14	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:34383824T>C	uc001bxn.1	-	5	700	c.671A>G	c.(670-672)AAC>AGC	p.N224S	CSMD2_uc001bxm.1_Missense_Mutation_p.N264S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	224	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCGGCATTGTTATGGTACTC	0.582													C	34383824	T	C	34383824	3	2	189	1	0	0	0	0	1	0	0	0	3945	1725	60	3	10052	3	CSMD2	1	34383824	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	20	34383824	214866797	118	97975											
GJB4	127534	broad.mit.edu	37	chr1	35226975	35226975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtacgtggtggcagcGgaggaggtgtgggacgatga	21	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:35226975G>T	uc001bxv.1	+	2	490	c.120G>T	c.(118-120)GCG>GCT	p.A40A	GJB4_uc001bxw.3_Silent_p.A40A	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	40	Helical; (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGTGGCAGCGGAGGAGGTGT	0.592													T	35226975	G	T	35226975	2	4	189	1	0	0	0	0	0	0	0	1	6410	1103	39	5		5	GJB4	1	35226975	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	843151	35226975	214023646	119	97976											
GJB3	2707	broad.mit.edu	37	chr1	35250706	35250706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacggggaccagtgcgccAagctgtacgacaacgcaggc	13	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:35250706A>G	uc001bxx.2	+	2	958	c.343A>G	c.(343-345)AAG>GAG	p.K115E	GJB3_uc001bxy.2_Missense_Mutation_p.K115E|GJB3_uc001bxz.3_Missense_Mutation_p.K115E|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	115	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCAGTGCGCCAAGCTGTACGA	0.602													G	35250706	A	G	35250706	3	3	189	1	0	0	0	0	1	0	0	0	6409	131	5	3	345	3	GJB3	1	35250706	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23731	35250706	213999915	120	97977											
GJA4	2701	broad.mit.edu	37	chr1	35260075	35260075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctcttcgtcagcacAcccaccctggtctacctggg	8	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:35260075A>G	uc001bya.2	+	2	349	c.261A>G	c.(259-261)ACA>ACG	p.T87T	GJA4_uc009vul.2_Silent_p.T163T|GJA4_uc009vum.1_Silent_p.T87T	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	87	Helical; (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCGTCAGCACACCCACCCTGG	0.637													G	35260075	A	G	35260075	2	3	189	1	0	0	0	0	0	0	0	1	6403	146	6	3		3	GJA4	1	35260075	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9369	35260075	213990546	121	97978											
DLGAP3	58512	broad.mit.edu	37	chr1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-													ccttgccaccggtggggtaaCccccccagtcatcttgcggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					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)				CGGTGGGGTAACCCCCCCAGT	0.607													-	35365852	C	-	35365852	7	5	189	1	0	1	0	1	0	0	0	0	4561	507	18	0	1845	0	DLGAP3	1	35365852	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	105777	35365852	213884769	122	97979											
SFPQ	6421	broad.mit.edu	37	chr1	35657105	35657106	+	Frame_Shift_Del	DEL	AA	AA	-													ttttctctccaggcctcctcAagagagacaaattggcttta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:35657104_35657105CAA>C	uc001bys.3	-	1	947_948	c.854_855TTG>G	c.(853-855)ttgfs	p.L285fs		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	285					DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein 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)				CAGGCCTCCTCAAGAGAGACAA	0.406			T	TFE3	papillary renal cell								-	35657106	AA	-	35657105	7	5	189	1	0	1	0	1	0	0	0	0	14160	131	5	0	1305	0	SFPQ	1	35657105	Frame_Shift_Del	DEL	AA	TCGA-CG-5721-01A-11D-1600-08	291253	35657105	213593516	123	97980											
ZMYM4	9202	broad.mit.edu	37	chr1	35836080	35836080	+	Frame_Shift_Del	DEL	A	A	-													gagtttcctgttctggttgtAaaaaaatcctccagaagggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:35836079_35836079TA>T	uc001byt.3	+	6	1112	c.1032_1032TA>T	c.(1030-1032)tgtfs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Del_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Del_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCC	0.478													-	35836080	A	-	35836080	7	5	189	1	0	1	0	1	0	0	0	0	17699	363	13	0	1059	0	ZMYM4	1	35836080	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	178975	35836080	213414541	124	97981											
ZMYM4	9202	broad.mit.edu	37	chr1	35864507	35864507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttgaatcagaggcagTatctactccacatagctggg	10	9	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:35864507T>C	uc001byt.2	+	22	3376	c.3296T>C	c.(3295-3297)GTA>GCA	p.V1099A	ZMYM4_uc009vuu.2_Missense_Mutation_p.V1067A|ZMYM4_uc001byu.2_Missense_Mutation_p.V775A|ZMYM4_uc009vuv.2_Missense_Mutation_p.V838A	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1099					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGAGGCAGTATCTACTCCA	0.403													C	35864507	T	C	35864507	3	2	189	1	0	0	0	0	1	0	0	0	17699	1638	57	3	3382	3	ZMYM4	1	35864507	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	28427	35864507	213386114	125	97982											
CLSPN	63967	broad.mit.edu	37	chr1	36202565	36202565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccttgacaggagaaagtgTatgaaagacaaagtttcttg	11	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:36202565T>C	uc001bzi.2	-	24	3939	c.3859A>G	c.(3859-3861)ACA>GCA	p.T1287A	CLSPN_uc009vux.2_Missense_Mutation_p.T1223A	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	1287					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			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAGAAAGTGTATGAAAGACA	0.448													C	36202565	T	C	36202565	3	2	189	1	0	0	0	0	1	0	0	0	3560	1638	57	3	168	3	CLSPN	1	36202565	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	338058	36202565	213048056	126	97983											
EIF2C1	26523	broad.mit.edu	37	chr1	36358271	36358271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcactgcccattggcaAcgaacgggtaaggttgggag	14	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:36358271A>G	uc001bzl.2	+	3	536	c.323A>G	c.(322-324)AAC>AGC	p.N108S	EIF2C1_uc001bzk.2_Missense_Mutation_p.N33S|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	108					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCATTGGCAACGAACGGGTA	0.493													G	36358271	A	G	36358271	3	3	189	1	0	0	0	0	1	0	0	0	5005	43	2	3	333	3	EIF2C1	1	36358271	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	155706	36358271	212892350	127	97984											
EIF2C1	26523	broad.mit.edu	37	chr1	36367936	36367936	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtgtcgagaagaggtgctCaagtaaggagggttcgctgt	16	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:36367936C>T	uc001bzl.2	+	11	1608	c.1395C>T	c.(1393-1395)CTC>CTT	p.L465L	EIF2C1_uc001bzk.2_Silent_p.L390L|EIF2C1_uc009vuy.2_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	465					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGAGGTGCTCAAGTAAGGAG	0.542													T	36367936	C	T	36367936	2	4	189	1	0	0	0	0	0	0	0	1	5005	813	29	4		4	EIF2C1	1	36367936	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	9665	36367936	212882685	128	97985											
ADPRHL2	54936	broad.mit.edu	37	chr1	36557305	36557305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcctgaaccccaaatGtcgcgatgtctttgagcctg	10	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:36557305G>A	uc001bzt.2	+	3	448	c.395G>A	c.(394-396)TGT>TAT	p.C132Y	ADPRHL2_uc001bzu.2_5'UTR	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	132						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			pancreas(1)	1		Myeloproliferative disorder(586;0.0393)				AACCCCAAATGTCGCGATGTC	0.552													A	36557305	G	A	36557305	3	1	189	1	0	0	0	0	1	0	0	0	333	1377	48	4	405	4	ADPRHL2	1	36557305	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	189369	36557305	212693316	129	97986											
TRAPPC3	27095	broad.mit.edu	37	chr1	36602838	36602838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagattgtcctcaatcCgcctgatgaatctcatccgg	9	12	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:36602838C>T	uc001bzx.2	-	5	597	c.509G>A	c.(508-510)CGG>CAG	p.R170Q	TRAPPC3_uc001bzy.2_Missense_Mutation_p.R124Q	NM_014408	NP_055223	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	170						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0393)				GTCCTCAATCCGCCTGATGAA	0.547													T	36602838	C	T	36602838	3	4	189	1	0	0	0	0	1	0	0	0	16457	652	23	1	37	1	TRAPPC3	1	36602838	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	45533	36602838	212647783	130	97987											
MAP7D1	55700	broad.mit.edu	37	chr1	36645665	36645665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagtccccgcaggtcAcaggtagatctcctgattcc	11	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:36645665A>G	uc001bzz.2	+	16	2728	c.2512A>G	c.(2512-2514)ACA>GCA	p.T838A	MAP7D1_uc001caa.2_Missense_Mutation_p.T805A|MAP7D1_uc001cab.2_Missense_Mutation_p.T800A|MAP7D1_uc001cac.2_Missense_Mutation_p.T537A|MAP7D1_uc001cad.2_Missense_Mutation_p.T374A	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	838						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CCCGCAGGTCACAGGTAGATC	0.592													G	36645665	A	G	36645665	3	3	189	1	0	0	0	0	1	0	0	0	9267	159	6	3	2574	3	MAP7D1	1	36645665	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	42827	36645665	212604956	131	97988											
CSF3R	1441	broad.mit.edu	37	chr1	36940985	36940985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggacttacagcctgcGcgcagctcaacctggtccag	12	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:36940985G>A	uc001caw.1	-	4	532	c.354C>T	c.(352-354)CGC>CGT	p.R118R	CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Silent_p.R118R|CSF3R_uc001cax.1_Silent_p.R118R|CSF3R_uc001cay.1_Silent_p.R118R	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	118	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TACAGCCTGCGCGCAGCTCAA	0.488													A	36940985	G	A	36940985	2	1	189	1	0	0	0	0	0	0	0	1	3937	1074	38	1		1	CSF3R	1	36940985	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	295320	36940985	212309636	132	97989											
GRIK3	2899	broad.mit.edu	37	chr1	37319265	37319265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtccagatcaaaatccGtccgcaagccactagttttg	8	11	1	2	rs142974275	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:37319265G>A	uc001caz.2	-	8	1298	c.1163C>T	c.(1162-1164)ACG>ATG	p.T388M	GRIK3_uc001cba.1_Missense_Mutation_p.T388M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	388	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATCAAAATCCGTCCGCAAGCC	0.547													A	37319265	G	A	37319265	3	1	189	1	0	0	0	0	1	0	0	0	6775	1145	40	1	1632	1	GRIK3	1	37319265	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	378280	37319265	211931356	133	97990											
SNIP1	79753	broad.mit.edu	37	chr1	38005863	38005863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcactctgtcgatgtatgTacatgactggaagcacctca	9	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:38005863T>C	uc001cbi.2	-	3	894	c.821A>G	c.(820-822)TAC>TGC	p.Y274C	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	274					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				TCGATGTATGTACATGACTGG	0.478													C	38005863	T	C	38005863	3	2	189	1	0	0	0	0	1	0	0	0	14848	1638	57	3	377	3	SNIP1	1	38005863	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	686598	38005863	211244758	134	97991											
GNL2	29889	broad.mit.edu	37	chr1	38056365	38056365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgctttgcttcatgacaActttgtatggatccttcata	6	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:38056365A>G	uc001cbk.2	-	4	489	c.326T>C	c.(325-327)GTT>GCT	p.V109A	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.V109A	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	109					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				CTTCATGACAACTTTGTATGG	0.383													G	38056365	A	G	38056365	3	3	189	1	0	0	0	0	1	0	0	0	6536	43	2	3	1921	3	GNL2	1	38056365	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	50502	38056365	211194256	135	97992											
GNL2	29889	broad.mit.edu	37	chr1	38056409	38056409	+	Frame_Shift_Del	DEL	T	T	-													gtatccatttcctcttgaaaTttttgtaatgatgactgctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:38056408_38056408AT>A	uc001cbk.3	-	3	446	c.283_283AT>T	c.(283-285)tttfs	p.F95fs	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Frame_Shift_Del_p.F95fs	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	95					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)				TCCTCTTGAAATTTTTGTAAT	0.378													-	38056409	T	-	38056409	7	5	189	1	0	1	0	1	0	0	0	0	6536	1490	52	0	1965	0	GNL2	1	38056409	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	44	38056409	211194212	136	97993											
POU3F1	5453	broad.mit.edu	37	chr1	38511620	38511620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaaagcccagcttgatgcGccgctgcttgaactgcttgg	12	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:38511620G>A	uc001ccp.1	-	1	831	c.796C>T	c.(796-798)CGC>TGC	p.R266C		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	266	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCTTGATGCGCCGCTGCTTG	0.592													A	38511620	G	A	38511620	3	1	189	1	0	0	0	0	1	0	0	0	12274	1087	38	1	563	1	POU3F1	1	38511620	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	455211	38511620	210739001	137	97994											
MACF1	23499	broad.mit.edu	37	chr1	39765930	39765930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttccgttgccagtctcGttgggagatcaaaaaccatc	10	10	2	2	rs140369443	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:39765930G>A	uc010ois.1	+	23	2750	c.2545G>A	c.(2545-2547)GTT>ATT	p.V849I	MACF1_uc001cda.1_Missense_Mutation_p.V757I|MACF1_uc001cdc.1_5'UTR|MACF1_uc009vvq.1_5'UTR|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	849					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			TGCCAGTCTCGTTGGGAGATC	0.428													A	39765930	G	A	39765930	3	1	189	1	0	0	0	0	1	0	0	0	9144	1145	40	1	2627	1	MACF1	1	39765930	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1254310	39765930	209484691	138	97995											
MACF1	23499	broad.mit.edu	37	chr1	39920622	39920622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagcagcgtcttgaaacGgccttgtcagaactggtggc	12	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:39920622G>A	uc010oiu.1	+	54	16388	c.16257G>A	c.(16255-16257)ACG>ACA	p.T5419T	MACF1_uc010ois.1_Silent_p.T4917T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	6875					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GTCTTGAAACGGCCTTGTCAG	0.532													A	39920622	G	A	39920622	2	1	189	1	0	0	0	0	0	0	0	1	9144	1103	39	1		1	MACF1	1	39920622	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	154692	39920622	209329999	139	97996											
MACF1	23499	broad.mit.edu	37	chr1	39950380	39950380	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcttccccggcctccacAggtgccaaaactaatcgggc	9	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:39950380A>G	uc010oiu.1	+	63	17669	c.17538A>G	c.(17536-17538)ACA>ACG	p.T5846T	MACF1_uc010ois.1_Silent_p.T5338T|MACF1_uc001cde.1_Silent_p.T252T|MACF1_uc001cdf.1_Silent_p.T221T|MACF1_uc001cdg.2_Silent_p.T166T|MACF1_uc001cdh.2_Silent_p.T129T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7296	Ser-rich.|C-terminal tail (By similarity).				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			CGGCCTCCACAGGTGCCAAAA	0.498													G	39950380	A	G	39950380	2	3	189	1	0	0	0	0	0	0	0	1	9144	175	7	3		3	MACF1	1	39950380	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	29758	39950380	209300241	140	97997											
MACF1	23499	broad.mit.edu	37	chr1	39951359	39951359	+	Frame_Shift_Del	DEL	G	G	-													cttcagaaagcagcgctgcaGggggccaaggcaactccagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:39951358_39951358AG>A	uc021olw.1	+	63	17709	c.17709_17709AG>A	c.(17707-17709)gcafs	p.A5903fs	MACF1_uc021ols.1_Frame_Shift_Del_p.A5392fs|MACF1_uc021olt.1_Frame_Shift_Del_p.A5395fs|MACF1_uc001cde.2_Frame_Shift_Del_p.A309fs|MACF1_uc001cdg.3_3'UTR|MACF1_uc001cdh.3_3'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7353					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			GCAGCGCTGCAGGGGGCCAAG	0.577													-	39951359	G	-	39951359	7	5	189	1	0	1	0	1	0	0	0	0	9144	1000	35	0	22733	0	MACF1	1	39951359	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	979	39951359	209299262	141	97998											
PABPC4	8761	broad.mit.edu	37	chr1	40029377	40029377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagcagcaacagcaGcgcgtggcgctaagttctgc	14	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:40029377G>A	uc010oiv.1	-	12	2427	c.1529C>T	c.(1528-1530)GCT>GTT	p.A510V	PABPC4_uc001cdl.2_Missense_Mutation_p.A526V|PABPC4_uc001cdm.2_Missense_Mutation_p.A497V	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	510	Poly-Ala.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	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)			AGCAACAGCAGCGCGTGGCGC	0.567													A	40029377	G	A	40029377	3	1	189	1	0	0	0	0	1	0	0	0	11366	971	34	2	421	2	PABPC4	1	40029377	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	78018	40029377	209221244	142	97999											
PABPC4	8761	broad.mit.edu	37	chr1	40038101	40038101	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaaagcagaaaaagtAtcataaagtgccttgttatc	6	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:40038101A>G	uc010oiv.1	-	2	1249	c.351T>C	c.(349-351)GAT>GAC	p.D117D	PABPC4_uc001cdl.2_Silent_p.D117D|PABPC4_uc001cdm.2_Silent_p.D117D	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	117	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	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)			CAGAAAAAGTATCATAAAGTG	0.348													G	40038101	A	G	40038101	2	3	189	1	0	0	0	0	0	0	0	1	11366	446	16	3		3	PABPC4	1	40038101	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8724	40038101	209212520	143	98000											
RLF	6018	broad.mit.edu	37	chr1	40661362	40661362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacaaatattggttcatgTtaccaaggaaggggtgtgga	12	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:40661362T>C	uc001cfc.3	+	4	564	c.533T>C	c.(532-534)GTT>GCT	p.V178A		NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	178					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			ovary(2)|pancreas(1)	3	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)			TTGGTTCATGTTACCAAGGAA	0.368													C	40661362	T	C	40661362	3	2	189	1	0	0	0	0	1	0	0	0	13389	1725	60	3	547	3	RLF	1	40661362	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	623261	40661362	208589259	144	98001											
ZNF684	127396	broad.mit.edu	37	chr1	41012267	41012267	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgttgatgaaccagggaAgcatcgggaaagcaaagaca	12	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:41012267A>C	uc001cft.1	+	5	523	c.272A>C	c.(271-273)AAG>ACG	p.K91T		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			GAACCAGGGAAGCATCGGGAA	0.358													C	41012267	A	C	41012267	3	2	189	1	0	0	0	0	1	0	0	0	18088	72	3	5	286	5	ZNF684	1	41012267	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	350905	41012267	208238354	145	98002											
SLFNL1	200172	broad.mit.edu	37	chr1	41486096	41486096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacttcaatgtgctcccgCgccaccggcatctccagccg	8	19	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:41486096C>T	uc001cgm.1	-	2	457	c.237G>A	c.(235-237)GCG>GCA	p.A79A	SLFNL1_uc009vwf.1_Silent_p.A79A|SLFNL1_uc001cgn.1_Silent_p.A79A|SLFNL1_uc009vwg.1_Silent_p.A79A	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	79							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGTGCTCCCGCGCCACCGGCA	0.667													T	41486096	C	T	41486096	2	4	189	1	0	0	0	0	0	0	0	1	14738	755	27	1		1	SLFNL1	1	41486096	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	473829	41486096	207764525	146	98003											
HIVEP3	59269	broad.mit.edu	37	chr1	42048868	42048868	+	Frame_Shift_Del	DEL	G	G	-													ggcttctcaggagaggcacaGggggggcggtactgggcggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:42048867_42048867AG>A	uc001cgz.4	-	3	2815	c.1602_1602CT>T	c.(1600-1602)cctfs	p.P534fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.P534fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				GGAGAGGCACAGGGGGGGCGG	0.597													-	42048868	G	-	42048868	7	5	189	1	0	1	0	1	0	0	0	0	7188	1000	35	0	5643	0	HIVEP3	1	42048868	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	562772	42048868	207201753	147	98004											
C1orf210	149466	broad.mit.edu	37	chr1	43748598	43748598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtctcaggcagtgggCggtgccggtagctggcatgg	17	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:43748598C>T	uc001cit.3	-	3	434	c.200G>A	c.(199-201)CGC>CAC	p.R67H		NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	hypothetical protein LOC149466	67	Cytoplasmic (Potential).					integral to membrane					0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCAGTGGGCGGTGCCGGTA	0.597													T	43748598	C	T	43748598	3	4	189	1	0	0	0	0	1	0	0	0	2029	768	27	1	145	1	C1orf210	1	43748598	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1699730	43748598	205502023	148	98005											
TIE1	7075	broad.mit.edu	37	chr1	43773195	43773195	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcctcccagaccccTatggctgctcttgtggatct	8	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:43773195T>C	uc001ciu.2	+	6	944	c.865T>C	c.(865-867)TAT>CAT	p.Y289H	TIE1_uc010okd.1_Missense_Mutation_p.Y289H|TIE1_uc010oke.1_Missense_Mutation_p.Y244H|TIE1_uc009vwq.2_Missense_Mutation_p.Y245H|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Missense_Mutation_p.Y289H	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	289	Extracellular (Potential).|EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCAGACCCCTATGGCTGCTC	0.607													C	43773195	T	C	43773195	3	2	189	1	0	0	0	0	1	0	0	0	15890	1522	53	3	887	3	TIE1	1	43773195	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	24597	43773195	205477426	149	98006											
TIE1	7075	broad.mit.edu	37	chr1	43785145	43785145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggggcgtctccctgtgCgctggatggccattgagtcc	14	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:43785145C>T	uc001ciu.2	+	19	3131	c.3052C>T	c.(3052-3054)CGC>TGC	p.R1018C	TIE1_uc010oke.1_Missense_Mutation_p.R973C|TIE1_uc009vwq.2_Missense_Mutation_p.R974C|TIE1_uc010okg.1_Missense_Mutation_p.R663C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	1018	Cytoplasmic (Potential).|Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTCCCTGTGCGCTGGATGGC	0.587													T	43785145	C	T	43785145	3	4	189	1	0	0	0	0	1	0	0	0	15890	768	27	1	3126	1	TIE1	1	43785145	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	11950	43785145	205465476	150	98007											
KIAA0467	23334	broad.mit.edu	37	chr1	43893400	43893400	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggcgccccgagacctcatCttccggtgagtgccttcagt	11	15	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:43893400C>T	uc001cjk.1	+	11	1563	c.1101C>T	c.(1099-1101)ATC>ATT	p.I367I		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1266						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGACCTCATCTTCCGGTGAG	0.577													T	43893400	C	T	43893400	2	4	189	1	0	0	0	0	0	0	0	1	8178	903	32	4		4	KIAA0467	1	43893400	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	108255	43893400	205357221	151	98008											
IPO13	9670	broad.mit.edu	37	chr1	44432664	44432664	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggtacaggaagacggTcgtatgctgctcatagcagt	14	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:44432664T>C	uc001ckx.2	+	18	3381	c.2586T>C	c.(2584-2586)GGT>GGC	p.G862G	IPO13_uc001cky.2_Silent_p.G80G	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	862					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGGAAGACGGTCGTATGCTGC	0.612													C	44432664	T	C	44432664	2	2	189	1	0	0	0	0	0	0	0	1	7794	1654	58	3		3	IPO13	1	44432664	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	539264	44432664	204817957	152	98009											
B4GALT2	8704	broad.mit.edu	37	chr1	44456113	44456114	+	Frame_Shift_Ins	INS	-	-	G													cctccgtcgtggccccctcgINSgggctgacactaatggacag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:44456112_44456113C>CG	uc010okl.2	+	6	1274_1275	c.1198_1199C>CG	c.(1198-1200)cggfs	p.R400fs	B4GALT2_uc001clg.3_Frame_Shift_Ins_p.R371fs|B4GALT2_uc001clh.3_Frame_Shift_Ins_p.R305fs|B4GALT2_uc001cli.3_Frame_Shift_Ins_p.R371fs|CCDC24_uc001clj.3_5'Flank|CCDC24_uc009vxc.3_5'Flank	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	371					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACAC	0.619													G	44456114	-	G	44456113	7	5	189	1	0	1	1	0	0	0	0	0	1271	1116	39	0	1134	0	B4GALT2	1	44456113	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	23449	44456113	204794508	153	98010											
SLC6A9	6536	broad.mit.edu	37	chr1	44467092	44467094	+	In_Frame_Del	DEL	GAA	GAA	-													agccccagcaggataagcatGaagaagaagagcagagacca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:44467091_44467093TGAA>T	uc001cll.3	-	8	1580_1582	c.1388_1390TTCA>A	c.(1387-1392)ttcatg>tAtg	p.463_464FM>Y	SLC6A9_uc009vxe.2_In_Frame_Del_p.319_320FM>Y|SLC6A9_uc010okm.1_In_Frame_Del_p.390_391FM>Y|SLC6A9_uc001clm.3_In_Frame_Del_p.409_410FM>Y|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_In_Frame_Del_p.394_395FM>Y|SLC6A9_uc010oko.2_In_Frame_Del_p.279_280FM>Y|SLC6A9_uc001cln.3_In_Frame_Del_p.390_391FM>Y|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	463						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)	AGGATAAGCATGAAGAAGAAGAG	0.635													-	44467094	GAA	-	44467092	7	5	189	1	0	1	0	1	0	0	0	0	14691	1281	45	0	755	0	SLC6A9	1	44467092	In_Frame_Del	DEL	GAA	TCGA-CG-5721-01A-11D-1600-08	10979	44467092	204783529	154	98011											
ERI3	79033	broad.mit.edu	37	chr1	44804743	44804743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaatctgtggcttgtcgcAcgtggcctcaaagtccagca	11	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:44804743A>G	uc001clt.2	-	3	704	c.463T>C	c.(463-465)TGC>CGC	p.C155R	ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Missense_Mutation_p.C155R|ERI3_uc010okw.1_Missense_Mutation_p.C77R|ERI3_uc001clu.2_Missense_Mutation_p.C77R	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	155	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						GGCTTGTCGCACGTGGCCTCA	0.547													G	44804743	A	G	44804743	3	3	189	1	0	0	0	0	1	0	0	0	5229	159	6	3	578	3	ERI3	1	44804743	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	337651	44804743	204445878	155	98012											
ERI3	79033	broad.mit.edu	37	chr1	44804978	44804978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgctagcattgaacaTccagaagcatctaaaactta	7	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:44804978T>C	uc001clt.2	-	3	469	c.228A>G	c.(226-228)GGA>GGG	p.G76G	ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Silent_p.G76G|ERI3_uc010okw.1_5'UTR|ERI3_uc001clu.2_5'UTR	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	76						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						GCATTGAACATCCAGAAGCAT	0.348													C	44804978	T	C	44804978	2	2	189	1	0	0	0	0	0	0	0	1	5229	1422	50	3		3	ERI3	1	44804978	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	235	44804978	204445643	156	98013											
BEST4	266675	broad.mit.edu	37	chr1	45250930	45250930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctccacaaactggcgGccaaccagggagagggcaaa	13	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:45250930G>A	uc001cmm.2	-	6	811	c.762C>T	c.(760-762)GGC>GGT	p.G254G		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	254	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CAAACTGGCGGCCAACCAGGG	0.607													A	45250930	G	A	45250930	2	1	189	1	0	0	0	0	0	0	0	1	1407	1190	42	2		2	BEST4	1	45250930	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	445952	45250930	203999691	157	98014											
PLK3	1263	broad.mit.edu	37	chr1	45270026	45270026	+	Frame_Shift_Del	DEL	C	C	-													gacagcggaacagaacccggCccccctggcccagccagagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:45270025_45270025GC>G	uc001cmn.3	+	11	1457	c.1357_1357GC>G	c.(1357-1359)gccfs	p.A453fs		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	453						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)					ACAGAACCCGGCCCCCCTGGC	0.622													-	45270026	C	-	45270026	7	5	189	1	0	1	0	1	0	0	0	0	12097	739	26	0	1404	0	PLK3	1	45270026	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	19096	45270026	203980595	158	98015											
PRDX1	5052	broad.mit.edu	37	chr1	45981482	45981482	+	Splice_Site	DEL	G	G	-													agaacacaacatattttcctGgggggaaaatcggagtcatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:45981481_45981481TG>T	uc001coc.3	-	3	422	c.107_splice	c.e3-1	p.G36_splice	PRDX1_uc001cob.3_Splice_Site_p.G36_splice|PRDX1_uc001coa.3_Splice_Site_p.G36_splice|PRDX1_uc021omw.1_Splice_Site_p.G36_splice	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	36	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CATATTTTCCTGGGGGGAAAA	0.403													-	45981482	G	-	45981482	8	5	189	1	0	1	0	1	0	0	1	0	12464	1363	47	0		0	PRDX1	1	45981482	Splice_Site	DEL	G	TCGA-CG-5721-01A-11D-1600-08	711456	45981482	203269139	159	98016											
IPP	3652	broad.mit.edu	37	chr1	46206587	46206587	+	Frame_Shift_Del	DEL	A	A	-													agttaccttctatatactttAaaagtctctgaggaggtaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:46206586_46206586TA>T	uc001cou.3	-	2	978	c.711_711TA>A	c.(709-711)ttafs	p.L237fs	IPP_uc001cos.4_Frame_Shift_Del_p.L237fs	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	237						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)					CTATATACTTTAAAAGTCTCT	0.343													-	46206587	A	-	46206587	7	5	189	1	0	1	0	1	0	0	0	0	7800	372	13	0	1174	0	IPP	1	46206587	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	225105	46206587	203044034	160	98017											
MAST2	23139	broad.mit.edu	37	chr1	46496683	46496683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgtgtctcatagattaCggaagcggctgtcggtgtct	13	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:46496683C>T	uc001cov.2	+	23	2996	c.2713C>T	c.(2713-2715)CGG>TGG	p.R905W	MAST2_uc001cow.2_Missense_Mutation_p.R905W|MAST2_uc001coy.1_Missense_Mutation_p.R579W|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	905					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCATAGATTACGGAAGCGGCT	0.587													T	46496683	C	T	46496683	3	4	189	1	0	0	0	0	1	0	0	0	9325	527	19	1	2803	1	MAST2	1	46496683	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	290096	46496683	202753938	161	98018											
TAL1	6886	broad.mit.edu	37	chr1	47691500	47691500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgctggcctcggccgCgtcccgtccctctagctggg	14	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:47691500C>T	uc001cqx.2	-	2	638	c.61G>A	c.(61-63)GCG>ACG	p.A21T	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Missense_Mutation_p.A21T|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	21					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			lung(1)	1						GCCTCGGCCGCGTCCCGTCCC	0.716			T	TRD@|SIL	lymphoblastic leukemia/biphasic								T	47691500	C	T	47691500	3	4	189	1	0	0	0	0	1	0	0	0	15538	768	27	1	946	1	TAL1	1	47691500	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1194817	47691500	201559121	162	98019											
BEND5	79656	broad.mit.edu	37	chr1	49201945	49201945	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtgaggcgagaggggTggtttagggactgcatcttt	17	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:49201945T>C	uc001crx.3	-	5	1118	c.1074A>G	c.(1072-1074)CCA>CCG	p.P358P	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.P189P	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	358	BEN.									skin(1)	1						GCGAGAGGGGTGGTTTAGGGA	0.458													C	49201945	T	C	49201945	2	2	189	1	0	0	0	0	0	0	0	1	1401	1683	59	3		3	BEND5	1	49201945	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1510445	49201945	200048676	163	98020											
FAF1	11124	broad.mit.edu	37	chr1	51049325	51049325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaatgtcctaaccctaccTtgaagaaaactctgctgtaa	6	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:51049325T>C	uc009vyx.1	-	12	1093	c.1030A>G	c.(1030-1032)AGA>GGA	p.R344G	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.R344G|FAF1_uc010onc.1_Missense_Mutation_p.R102G	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	344					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			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TAACCCTACCTTGAAGAAAAC	0.269													C	51049325	T	C	51049325	3	2	189	1	0	0	0	0	1	0	0	0	5369	1623	56	3	958	3	FAF1	1	51049325	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1847380	51049325	198201296	164	98021											
TTC39A	22996	broad.mit.edu	37	chr1	51767291	51767291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtcggcgtagaagtaggAcatcttccactggcccttgt	12	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:51767291A>G	uc001csl.2	-	12	1219	c.1114T>C	c.(1114-1116)TCC>CCC	p.S372P	TTC39A_uc001csk.2_Missense_Mutation_p.S337P|TTC39A_uc010ond.1_Missense_Mutation_p.S309P|TTC39A_uc010one.1_Missense_Mutation_p.S336P|TTC39A_uc010onf.1_Missense_Mutation_p.S340P|TTC39A_uc001csn.2_Missense_Mutation_p.S371P|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Missense_Mutation_p.S309P	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	372							binding			skin(1)	1						TAGAAGTAGGACATCTTCCAC	0.587													G	51767291	A	G	51767291	3	3	189	1	0	0	0	0	1	0	0	0	16704	275	10	3	755	3	TTC39A	1	51767291	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	717966	51767291	197483330	165	98022											
OSBPL9	114883	broad.mit.edu	37	chr1	52252277	52252277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggaagatcagaacgagtAtgaatcccgcaggtaagccg	13	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:52252277A>G	uc001cst.2	+	22	2007	c.1988A>G	c.(1987-1989)TAT>TGT	p.Y663C	OSBPL9_uc001css.2_Missense_Mutation_p.Y668C|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.Y664C|OSBPL9_uc001csu.2_Missense_Mutation_p.Y673C|OSBPL9_uc001csv.2_Missense_Mutation_p.Y498C|OSBPL9_uc001csw.2_Missense_Mutation_p.Y650C|OSBPL9_uc001csy.2_Missense_Mutation_p.Y485C|OSBPL9_uc001csz.2_Missense_Mutation_p.Y485C|OSBPL9_uc001cta.2_Missense_Mutation_p.Y553C|OSBPL9_uc001ctb.2_Missense_Mutation_p.Y448C	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	663					lipid transport		lipid binding			central_nervous_system(1)	1						CAGAACGAGTATGAATCCCGC	0.418													G	52252277	A	G	52252277	3	3	189	1	0	0	0	0	1	0	0	0	11284	449	16	3	2178	3	OSBPL9	1	52252277	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	484986	52252277	196998344	166	98023											
NRD1	4898	broad.mit.edu	37	chr1	52277683	52277683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttctggcttgtattcaaAaagaagctgatctccagtga	8	8	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:52277683A>G	uc001ctc.3	-	17	2288	c.1966T>C	c.(1966-1968)TTT>CTT	p.F656L	NRD1_uc009vzb.2_Missense_Mutation_p.F351L|NRD1_uc001ctd.3_Missense_Mutation_p.F588L|NRD1_uc001cte.2_Missense_Mutation_p.F524L|NRD1_uc001ctf.2_Missense_Mutation_p.F588L|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	587					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				0						TTGTATTCAAAAAGAAGCTGA	0.413													G	52277683	A	G	52277683	3	3	189	1	0	0	0	0	1	0	0	0	10645	14	1	3	1761	3	NRD1	1	52277683	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	25406	52277683	196972938	167	98024											
ZCCHC11	23318	broad.mit.edu	37	chr1	52961105	52961105	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaattacttaccttgggAggaaattttatatctatatt	5	5	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:52961105A>G	uc001ctx.2	-	6	1494	c.1260T>C	c.(1258-1260)CCT>CCC	p.P420P	ZCCHC11_uc001cty.2_Silent_p.P420P|ZCCHC11_uc001ctz.2_Silent_p.P420P|ZCCHC11_uc009vze.1_Silent_p.P420P|ZCCHC11_uc009vzf.1_Silent_p.P179P|ZCCHC11_uc001cub.2_Silent_p.P420P|ZCCHC11_uc001cuc.2_RNA	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	420					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TTACCTTGGGAGGAAATTTTA	0.308													G	52961105	A	G	52961105	2	3	189	1	0	0	0	0	0	0	0	1	17577	291	11	3		3	ZCCHC11	1	52961105	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	683422	52961105	196289516	168	98025											
C1orf163	65260	broad.mit.edu	37	chr1	53153604	53153604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtccttgggaaagcctgGggcaccctgcaggaacatgg	14	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:53153604G>A	uc001cui.1	-	3	524	c.484C>T	c.(484-486)CCA>TCA	p.P162S		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	hypothetical protein LOC65260	162	Sel1-like 4.						binding				0						GGAAAGCCTGGGGCACCCTGC	0.542													A	53153604	G	A	53153604	3	1	189	1	0	0	0	0	1	0	0	0	2011	1232	43	4	215	4	C1orf163	1	53153604	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	192499	53153604	196097017	169	98026											
SCP2	6342	broad.mit.edu	37	chr1	53513586	53513586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacttcctggctttaatgActggtaaaatgaatcctcag	8	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:53513586A>G	uc001cur.1	+	15	1646	c.1525A>G	c.(1525-1527)ACT>GCT	p.T509A	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.T428A|SCP2_uc010onp.1_Missense_Mutation_p.T485A|SCP2_uc009vzi.1_Missense_Mutation_p.T465A|SCP2_uc010onq.1_Missense_Mutation_p.T105A|SCP2_uc001cut.1_Missense_Mutation_p.T102A|SCP2_uc001cuu.1_3'UTR	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	509	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						GGCTTTAATGACTGGTAAAAT	0.443													G	53513586	A	G	53513586	3	3	189	1	0	0	0	0	1	0	0	0	13934	275	10	3	1607	3	SCP2	1	53513586	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	359982	53513586	195737035	170	98027											
SLC1A7	6512	broad.mit.edu	37	chr1	53554604	53554604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatatgggccatgatccccGctgccagcgcatcacccagc	9	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:53554604G>A	uc001cuy.2	-	10	1577	c.1409C>T	c.(1408-1410)GCG>GTG	p.A470V	SLC1A7_uc001cux.2_Missense_Mutation_p.A123V	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	470	Helical; (Potential).					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CATGATCCCCGCTGCCAGCGC	0.612													A	53554604	G	A	53554604	3	1	189	1	0	0	0	0	1	0	0	0	14437	1087	38	1	281	1	SLC1A7	1	53554604	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	41018	53554604	195696017	171	98028											
CPT2	1376	broad.mit.edu	37	chr1	53675834	53675834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctgccatccggtttcTgaagacactccgggctggcc	11	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:53675834T>C	uc001cvb.3	+	4	1003	c.488T>C	c.(487-489)CTG>CCG	p.L163P		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	163	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATCCGGTTTCTGAAGACACTC	0.473													C	53675834	T	C	53675834	3	2	189	1	0	0	0	0	1	0	0	0	3834	1580	55	3	502	3	CPT2	1	53675834	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	121230	53675834	195574787	172	98029											
DMRTB1	63948	broad.mit.edu	37	chr1	53930411	53930411	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccgcagccccagttcctCccgccaggctacctctctgc	7	22	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:53930411C>T	uc001cvq.1	+	3	907	c.852C>T	c.(850-852)CTC>CTT	p.L284L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	284	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCCAGTTCCTCCCGCCAGGCT	0.522													T	53930411	C	T	53930411	2	4	189	1	0	0	0	0	0	0	0	1	4590	842	30	4		4	DMRTB1	1	53930411	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	254577	53930411	195320210	173	98030											
GLIS1	148979	broad.mit.edu	37	chr1	53974836	53974836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgtggtagccattgggCcgcagggggttgaaaccgtg	18	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:53974836C>T	uc001cvr.1	-	9	2229	c.1662G>A	c.(1660-1662)CGG>CGA	p.R554R		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	554					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			skin(1)	1						AGCCATTGGGCCGCAGGGGGT	0.532													T	53974836	C	T	53974836	2	4	189	1	0	0	0	0	0	0	0	1	6445	726	26	2		2	GLIS1	1	53974836	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	44425	53974836	195275785	174	98031											
DIO1	1733	broad.mit.edu	37	chr1	54370370	54370370	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctgaattttggaagTtgtacctgaccttcatttat	9	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:54370370T>C	uc010onx.1	+	2	392	c.369T>C	c.(367-369)AGT>AGC	p.S123S	DIO1_uc010onw.1_Silent_p.S59S|DIO1_uc009vzl.2_Intron|DIO1_uc001cwb.2_Intron|DIO1_uc010ony.1_Silent_p.S123S|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_Intron|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	NM_000792	NP_000783	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I isoform a	123					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity				0						ATTTTGGAAGTTGTACCTGAC	0.383													C	54370370	T	C	54370370	2	2	189	1	0	0	0	0	0	0	0	1	4524	1722	60	3		3	DIO1	1	54370370	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	395534	54370370	194880251	175	98032											
ACOT11	26027	broad.mit.edu	37	chr1	55065067	55065067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgctcaaagccatcgTgaacaatgccttcaaacata	7	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:55065067T>C	uc001cxm.1	+	8	945	c.863T>C	c.(862-864)GTG>GCG	p.V288A	ACOT11_uc001cxj.1_Missense_Mutation_p.V166A|ACOT11_uc001cxl.1_Missense_Mutation_p.V288A	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	288	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						AAAGCCATCGTGAACAATGCC	0.592													C	55065067	T	C	55065067	3	2	189	1	0	0	0	0	1	0	0	0	149	1696	59	3	893	3	ACOT11	1	55065067	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	694697	55065067	194185554	176	98033											
ACOT11	26027	broad.mit.edu	37	chr1	55069590	55069590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtgcccctctccgtcCcctgggaccctagcaaccag	10	18	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:55069590C>T	uc001cxm.1	+	11	1214	c.1132C>T	c.(1132-1134)CCC>TCC	p.P378S	ACOT11_uc001cxj.1_Missense_Mutation_p.P256S|ACOT11_uc001cxl.1_Missense_Mutation_p.P378S	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	378	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CCTCTCCGTCCCCTGGGACCC	0.572													T	55069590	C	T	55069590	3	4	189	1	0	0	0	0	1	0	0	0	149	623	22	4	1174	4	ACOT11	1	55069590	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4523	55069590	194181031	177	98034											
C1orf175	374977	broad.mit.edu	37	chr1	55175638	55175638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctggataacttgagacaTgacccagaagcatcagtgtg	11	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:55175638T>C	uc010ooe.1	+	24	4074	c.3750T>C	c.(3748-3750)CAT>CAC	p.H1250H	C1orf175_uc001cxq.2_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.H768H|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.H451H	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	1250						integral to membrane	binding				0						ACTTGAGACATGACCCAGAAG	0.532													C	55175638	T	C	55175638	2	2	189	1	0	0	0	0	0	0	0	1	2016	1461	51	3		3	C1orf175	1	55175638	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	106048	55175638	194074983	178	98035											
USP24	23358	broad.mit.edu	37	chr1	55624619	55624619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcaatagaatatctagtcGaaggtcatccacaattgtca	8	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:55624619G>A	uc001cyg.3	-	9	823	c.823C>T	c.(823-825)CGA>TGA	p.R275*		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	387					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						ATATCTAGTCGAAGGTCATCC	0.393													A	55624619	G	A	55624619	4	1	189	1	0	0	0	0	0	1	0	0	17052	1066	37	1	6939	1	USP24	1	55624619	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	448981	55624619	193626002	179	98036											
C8B	732	broad.mit.edu	37	chr1	57415420	57415420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgaattcgtatttgccTtgggtctaaagaagaaaaaa	8	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:57415420T>G	uc001cyp.2	-	6	739	c.672A>C	c.(670-672)CAA>CAC	p.Q224H	C8B_uc010oon.1_Missense_Mutation_p.Q162H|C8B_uc010ooo.1_Missense_Mutation_p.Q172H	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	224	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						CGTATTTGCCTTGGGTCTAAA	0.279													G	57415420	T	G	57415420	3	3	189	1	0	0	0	0	1	0	0	0	2417	1606	56	5	1131	5	C8B	1	57415420	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1790801	57415420	191835201	180	98037											
C8B	732	broad.mit.edu	37	chr1	57425755	57425755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actagacagctcacaatcaaTgggcatcagggtaacatcca	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:57425755T>C	uc001cyp.2	-	2	254	c.187A>G	c.(187-189)ATT>GTT	p.I63V	C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_Missense_Mutation_p.I11V	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	63					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TCACAATCAATGGGCATCAGG	0.498													C	57425755	T	C	57425755	3	2	189	1	0	0	0	0	1	0	0	0	2417	1464	51	3	1632	3	C8B	1	57425755	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10335	57425755	191824866	181	98038											
L1TD1	54596	broad.mit.edu	37	chr1	62676144	62676144	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcactagagatgagtcaTgatgagcataaaaagcattc	9	6	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:62676144T>C	uc001dae.3	+	4	2000	c.1698T>C	c.(1696-1698)CAT>CAC	p.H566H		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	566										ovary(1)|skin(1)	2						AGATGAGTCATGATGAGCATA	0.428													C	62676144	T	C	62676144	2	2	189	1	0	0	0	0	0	0	0	1	8589	1461	51	3		3	L1TD1	1	62676144	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5250389	62676144	186574477	182	98039											
DOCK7	85440	broad.mit.edu	37	chr1	62970361	62970361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcactggcgtgtgaccgTattgtaccgatgctactgct	13	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:62970361T>C	uc001daq.2	-	37	4711	c.4677A>G	c.(4675-4677)ATA>ATG	p.I1559M	DOCK7_uc001dan.2_Missense_Mutation_p.I1420M|DOCK7_uc001dao.2_Missense_Mutation_p.I1420M|DOCK7_uc001dap.2_Missense_Mutation_p.I1537M|DOCK7_uc001dam.2_Missense_Mutation_p.I739M|DOCK7_uc010oov.1_Missense_Mutation_p.I298M	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1568					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			ovary(2)	2						CGTGTGACCGTATTGTACCGA	0.403													C	62970361	T	C	62970361	3	2	189	1	0	0	0	0	1	0	0	0	4692	1628	57	3	1774	3	DOCK7	1	62970361	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	294217	62970361	186280260	183	98040											
CACHD1	57685	broad.mit.edu	37	chr1	65147750	65147750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagtccagaaagaaggCgccgctactggggtcgatca	12	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:65147750C>T	uc001dbo.1	+	26	3499	c.3394C>T	c.(3394-3396)CGC>TGC	p.R1132C	CACHD1_uc001dbp.1_Missense_Mutation_p.R887C|CACHD1_uc001dbq.1_Missense_Mutation_p.R887C|CACHD1_uc010opa.1_Missense_Mutation_p.R376C	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1183	Cytoplasmic (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						AGAAAGAAGGCGCCGCTACTG	0.493													T	65147750	C	T	65147750	3	4	189	1	0	0	0	0	1	0	0	0	2537	768	27	1	3496	1	CACHD1	1	65147750	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2177389	65147750	184102871	184	98041											
CACHD1	57685	broad.mit.edu	37	chr1	65157117	65157117	+	Frame_Shift_Del	DEL	C	C	-													tgaggacttagacctggataCcccccctcagactgctgccc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:65157116_65157116AC>A	uc001dbo.1	+	26	3649	c.3544_3544AC>A	c.(3544-3546)accfs	p.T1182fs	CACHD1_uc001dbp.1_Frame_Shift_Del_p.T937fs|CACHD1_uc001dbq.1_Frame_Shift_Del_p.T937fs|CACHD1_uc010opa.1_Frame_Shift_Del_p.T426fs|CACHD1_uc021ooi.1_Non-coding_Transcript	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		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						AGACCTGGATACCCCCCCTCA	0.552													-	65157117	C	-	65157117	7	5	189	1	0	1	0	1	0	0	0	0	2537	507	18	0	3651	0	CACHD1	1	65157117	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	9367	65157117	184093504	185	98042											
RAVER2	55225	broad.mit.edu	37	chr1	65243402	65243402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttaatagtccagcttcAgccaacagatgctttgttgt	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:65243402A>G	uc001dbs.1	+	3	491	c.413A>G	c.(412-414)CAG>CGG	p.Q138R	RAVER2_uc001dbt.1_Missense_Mutation_p.Q17R|RAVER2_uc010opb.1_Missense_Mutation_p.Q17R	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	138	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						GTCCAGCTTCAGCCAACAGAT	0.378													G	65243402	A	G	65243402	3	3	189	1	0	0	0	0	1	0	0	0	13095	188	7	3	423	3	RAVER2	1	65243402	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	86285	65243402	184007219	186	98043											
DNAJC6	9829	broad.mit.edu	37	chr1	65830470	65830470	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatacaatctgtgaccaggTacgcacattcttcccagtta	7	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:65830470T>C	uc001dcd.1	+	2	337	c.173_splice	c.e2+2	p.S58_splice	DNAJC6_uc001dcc.1_Splice_Site_p.S89_splice|DNAJC6_uc010opc.1_Splice_Site_p.S45_splice|DNAJC6_uc001dce.1_Splice_Site_p.S115_splice	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6						cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						TGTGACCAGGTACGCACATTC	0.453													C	65830470	T	C	65830470	5	2	189	1	0	0	0	0	0	0	1	0	4653	1652	57	3	181	3	DNAJC6	1	65830470	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	587068	65830470	183420151	187	98044											
LEPR	3953	broad.mit.edu	37	chr1	66067119	66067119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacaagtgttgggtctAatgtttcttttcactgcatc	8	8	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:66067119A>G	uc001dci.2	+	9	1241	c.1039A>G	c.(1039-1041)AAT>GAT	p.N347D	LEPR_uc001dcg.2_Missense_Mutation_p.N347D|LEPR_uc001dch.2_Missense_Mutation_p.N347D|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.N347D|LEPR_uc001dck.2_Missense_Mutation_p.N347D	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	347	Extracellular (Potential).|Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTGGGTCTAATGTTTCTTT	0.343													G	66067119	A	G	66067119	3	3	189	1	0	0	0	0	1	0	0	0	8728	362	13	3	1065	3	LEPR	1	66067119	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	236649	66067119	183183502	188	98045											
SGIP1	84251	broad.mit.edu	37	chr1	67105497	67105497	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaaatggattttatgcggAaattgattgggaaagatatg	11	3	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:67105497A>T	uc001dcr.2	+	5	426	c.209A>T	c.(208-210)GAA>GTA	p.E70V		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	70					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			ovary(3)	3						TTTTATGCGGAAATTGATTGG	0.294													T	67105497	A	T	67105497	3	4	189	1	0	0	0	0	1	0	0	0	14206	246	9	5	227	5	SGIP1	1	67105497	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1038378	67105497	182145124	189	98046											
SGIP1	84251	broad.mit.edu	37	chr1	67185012	67185012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccctaaccatgggaGctcaggacactctccctgtt	8	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:67185012G>A	uc001dcr.2	+	19	1883	c.1666G>A	c.(1666-1668)GCT>ACT	p.A556T	SGIP1_uc010opd.1_Missense_Mutation_p.A156T|SGIP1_uc001dcs.2_Missense_Mutation_p.A156T|SGIP1_uc001dct.2_Missense_Mutation_p.A158T|SGIP1_uc009wat.2_Missense_Mutation_p.A350T|SGIP1_uc001dcu.2_Missense_Mutation_p.A61T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	556					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			ovary(3)	3						AACCATGGGAGCTCAGGACAC	0.423													A	67185012	G	A	67185012	3	1	189	1	0	0	0	0	1	0	0	0	14206	971	34	2	1740	2	SGIP1	1	67185012	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	79515	67185012	182065609	190	98047											
WDR78	79819	broad.mit.edu	37	chr1	67337080	67337080	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccattatgattttatcacAttgaacatctttattctttg	3	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:67337080A>T	uc001dcx.2	-	6	969	c.913T>A	c.(913-915)TGT>AGT	p.C305S	WDR78_uc001dcy.2_Missense_Mutation_p.C305S|WDR78_uc001dcz.2_Missense_Mutation_p.C305S|WDR78_uc009waw.2_Missense_Mutation_p.C51S|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	305										ovary(2)	2						ATTTTATCACATTGAACATCT	0.308													T	67337080	A	T	67337080	3	4	189	1	0	0	0	0	1	0	0	0	17325	217	8	5	1738	5	WDR78	1	67337080	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	152068	67337080	181913541	191	98048											
GNG12	55970	broad.mit.edu	37	chr1	68171216	68171216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggtcactcctggcaTgttcctcacagtaggacatg	11	11	2	0	rs139638442	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:68171216T>C	uc001dea.1	-	4	329	c.137A>G	c.(136-138)CAT>CGT	p.H46R		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	46					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				0						ACTCCTGGCATGTTCCTCACA	0.393													C	68171216	T	C	68171216	3	2	189	1	0	0	0	0	1	0	0	0	6525	1464	51	3	85	3	GNG12	1	68171216	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	834136	68171216	181079405	192	98049											
GNG12	55970	broad.mit.edu	37	chr1	68171242	68171242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtaggacatgaggtcCgctgatgccttcgaaacctg	11	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:68171242C>T	uc001dea.1	-	4	303	c.111G>A	c.(109-111)GCG>GCA	p.A37A		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	37					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				0						ACATGAGGTCCGCTGATGCCT	0.368													T	68171242	C	T	68171242	2	4	189	1	0	0	0	0	0	0	0	1	6525	639	23	1		1	GNG12	1	68171242	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	26	68171242	181079379	193	98050											
WLS	79971	broad.mit.edu	37	chr1	68564378	68564378	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgctgaacaattcttgAtaaagttccgaaacaaacaa	7	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:68564378A>T	uc001dee.2	-	12	1840	c.1569T>A	c.(1567-1569)TAT>TAA	p.Y523*	uc001deb.1_RNA|uc001dec.1_RNA	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 2	Error:Variant_position_missing_in_Q5T9L3_after_alignment					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				0						acaattcttgataaagttccg	0													T	68564378	A	T	68564378	4	4	189	1	0	0	0	0	0	1	0	0	17373	340	12	5	66	5	WLS	1	68564378	Nonsense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	393136	68564378	180686243	194	98051											
DEPDC1	55635	broad.mit.edu	37	chr1	68949753	68949753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaacataagttggattatTcatatcattgcttcttggcc	6	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:68949753T>C	uc001dem.3	-	7	907	c.790A>G	c.(790-792)AAT>GAT	p.N264D	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.N264D	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	264					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GTTGGATTATTCATATCATTG	0.274													C	68949753	T	C	68949753	3	2	189	1	0	0	0	0	1	0	0	0	4439	1783	62	3	1669	3	DEPDC1	1	68949753	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	385375	68949753	180300868	195	98052											
TNNI3K	51086	broad.mit.edu	37	chr1	74957869	74957869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccggggaggacctggccGgagtcatgtggcagcattaa	16	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:74957869G>A	uc001dgf.1	+	23	2321	c.2270G>A	c.(2269-2271)CGG>CAG	p.R757Q	TNNI3K_uc001dge.1_Missense_Mutation_p.R858Q	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	757						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						GGACCTGGCCGGAGTCATGTG	0.488													A	74957869	G	A	74957869	3	1	189	1	0	0	0	0	1	0	0	0	16326	1116	39	1	2715	1	TNNI3K	1	74957869	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6008116	74957869	174292752	196	98053											
C1orf173	127254	broad.mit.edu	37	chr1	75072466	75072467	+	Frame_Shift_Del	DEL	CT	CT	-													tttctttttggtatcacataCtctctctctttcctcacttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:75072465_75072466ACT>A	uc001dgg.3	-	9	1527_1528	c.1308_1309AGT>T	c.(1306-1311)gagtatfs	p.E436fs	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Frame_Shift_Del_p.E230fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	436	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						GGTATCACATACTCTCTCTCTT	0.401													-	75072467	CT	-	75072466	7	5	189	1	0	1	0	1	0	0	0	0	2014	564	20	0	3304	0	C1orf173	1	75072466	Frame_Shift_Del	DEL	CT	TCGA-CG-5721-01A-11D-1600-08	114597	75072466	174178155	197	98054											
C1orf173	127254	broad.mit.edu	37	chr1	75108709	75108709	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagagttatataactccttAccttaaacctctggattcgc	6	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:75108709A>G	uc001dgg.2	-	4	534	c.315_splice	c.e4+1	p.K105_splice		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254											ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						ATAACTCCTTACCTTAAACCT	0.338													G	75108709	A	G	75108709	5	3	189	1	0	0	0	0	0	0	1	0	2014	405	14	3	4319	3	C1orf173	1	75108709	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	36243	75108709	174141912	198	98055											
CRYZ	1429	broad.mit.edu	37	chr1	75188918	75188918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcgaatgtatgtctccaCggggttgacaccacatgcat	11	10	1	2	rs138254201	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:75188918C>T	uc001dgk.2	-	4	653	c.148G>A	c.(148-150)GTG>ATG	p.V50M	CRYZ_uc001dgj.2_Missense_Mutation_p.V50M|CRYZ_uc001dgl.2_Missense_Mutation_p.V50M|CRYZ_uc001dgm.2_Translation_Start_Site	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	50					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)	TATGTCTCCACGGGGTTGACA	0.393													T	75188918	C	T	75188918	3	4	189	1	0	0	0	0	1	0	0	0	3922	536	19	1	869	1	CRYZ	1	75188918	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	80209	75188918	174061703	199	98056											
LHX8	431707	broad.mit.edu	37	chr1	75606712	75606712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggtgtctctcctgcagtGtttgcagaacctccctagga	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:75606712G>A	uc001dgo.2	+	5	974	c.310G>A	c.(310-312)GTT>ATT	p.V104I	LHX8_uc001dgq.2_Missense_Mutation_p.V43I	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	104	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTCCTGCAGTGTTTGCAGAAC	0.398													A	75606712	G	A	75606712	3	1	189	1	0	0	0	0	1	0	0	0	8776	1377	48	4	324	4	LHX8	1	75606712	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	417794	75606712	173643909	200	98057											
RABGGTB	5876	broad.mit.edu	37	chr1	76256992	76256992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgacacaagattctcTttttgtgcggtggcaacttt	9	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:76256992T>C	uc001dgy.1	+	5	509	c.438T>C	c.(436-438)TCT>TCC	p.S146S	RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Silent_p.S100S|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	146	PFTB 3.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						CAAGATTCTCTTTTTGTGCGG	0.318													C	76256992	T	C	76256992	2	2	189	1	0	0	0	0	0	0	0	1	12968	1596	56	3		3	RABGGTB	1	76256992	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	650280	76256992	172993629	201	98058											
PIGK	10026	broad.mit.edu	37	chr1	77620132	77620132	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataatggtttaagatgaatAcctgctttccatgatttctg	7	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:77620132A>G	uc001dhk.2	-	9	1031	c.986_splice	c.e9+1	p.S329_splice	PIGK_uc010orj.1_Splice_Site_p.S253_splice|PIGK_uc009wbx.2_Splice_Site_p.S235_splice|PIGK_uc001dhl.1_Missense_Mutation_p.Y330H	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,						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			ovary(2)|pancreas(1)	3						TAAGATGAATACCTGCTTTCC	0.303													G	77620132	A	G	77620132	5	3	189	1	0	0	0	0	0	0	1	0	11890	405	14	3	211	3	PIGK	1	77620132	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1363140	77620132	171630489	202	98059											
PIGK	10026	broad.mit.edu	37	chr1	77629529	77629529	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagtaatttgctaattAccgtcttttctgccacattt	5	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:77629529A>G	uc001dhk.2	-	6	629	c.584_splice	c.e6+1	p.R195_splice	PIGK_uc010orj.1_Splice_Site_p.R119_splice|PIGK_uc009wbx.2_Splice_Site_p.R101_splice|PIGK_uc001dhl.1_Splice_Site_p.R195_splice	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,						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			ovary(2)|pancreas(1)	3						TTTGCTAATTACCGTCTTTTC	0.294													G	77629529	A	G	77629529	5	3	189	1	0	0	0	0	0	0	1	0	11890	405	14	3	625	3	PIGK	1	77629529	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9397	77629529	171621092	203	98060											
AK5	26289	broad.mit.edu	37	chr1	77752673	77752673	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcccgaagatccagtagaAtacttggaaagttgtttaca	9	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:77752673A>G	uc001dhn.2	+	2	365	c.108A>G	c.(106-108)GAA>GAG	p.E36E	AK5_uc001dho.2_Silent_p.E10E|AK5_uc001dhm.1_Silent_p.E36E	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	36					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			skin(1)	1						ATCCAGTAGAATACTTGGAAA	0.368													G	77752673	A	G	77752673	2	3	189	1	0	0	0	0	0	0	0	1	443	98	4	3		3	AK5	1	77752673	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	123144	77752673	171497948	204	98061											
USP33	23032	broad.mit.edu	37	chr1	78178969	78178969	+	Splice_Site	DEL	A	A	-													cttttcttggaggaacacctAaaaaaatatataaacatatc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:78178968_78178968TA>T	uc001dht.3	-	21	2656	c.2309_splice	c.e21-1	p.G770_splice	USP33_uc001dhs.3_Splice_Site_p.G491_splice|USP33_uc001dhu.3_Splice_Site_p.G739_splice|USP33_uc001dhv.3_Splice_Site_p.G575_splice|USP33_uc001dhw.3_Splice_Site_p.G762_splice	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	770	DUSP 1.				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	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|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						GAGGAACACCTAAAAAAATAT	0.289													-	78178969	A	-	78178969	8	5	189	1	0	1	0	1	0	0	1	0	17061	377	13	0		0	USP33	1	78178969	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	426296	78178969	171071652	205	98062											
FAM73A	374986	broad.mit.edu	37	chr1	78326981	78326981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccgatcactggggtagtActgaaatggaacttgctgct	12	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:78326981A>G	uc001dhx.2	+	12	1380	c.1348A>G	c.(1348-1350)ACT>GCT	p.T450A	FAM73A_uc010ork.1_Missense_Mutation_p.T450A|FAM73A_uc010orl.1_Missense_Mutation_p.T412A|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	450						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		CTGGGGTAGTACTGAAATGGA	0.313													G	78326981	A	G	78326981	3	3	189	1	0	0	0	0	1	0	0	0	5617	391	14	3	1394	3	FAM73A	1	78326981	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	148012	78326981	170923640	206	98063											
FAM73A	374986	broad.mit.edu	37	chr1	78329681	78329681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatacagaatgtagtaaatAatcgatggctaaactcatcc	6	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:78329681A>G	uc001dhx.2	+	13	1509	c.1477A>G	c.(1477-1479)AAT>GAT	p.N493D	FAM73A_uc010ork.1_Missense_Mutation_p.N493D|FAM73A_uc010orl.1_Missense_Mutation_p.N455D	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	493						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TGTAGTAAATAATCGATGGCT	0.294													G	78329681	A	G	78329681	3	3	189	1	0	0	0	0	1	0	0	0	5617	362	13	3	1527	3	FAM73A	1	78329681	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2700	78329681	170920940	207	98064											
LPHN2	23266	broad.mit.edu	37	chr1	82372891	82372891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacagactgctacctccccgAtgccttcaaaattatgactc	5	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:82372891A>T	uc001dit.3	+	4	444	c.263A>T	c.(262-264)GAT>GTT	p.D88V	LPHN2_uc001dis.2_Missense_Mutation_p.D88V|LPHN2_uc001diu.2_Missense_Mutation_p.D88V|LPHN2_uc001div.2_Missense_Mutation_p.D88V|LPHN2_uc009wcd.2_Missense_Mutation_p.D88V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	88	Extracellular (Potential).|SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TACCTCCCCGATGCCTTCAAA	0.383													T	82372891	A	T	82372891	3	4	189	1	0	0	0	0	1	0	0	0	8916	333	12	5	269	5	LPHN2	1	82372891	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4043210	82372891	166877730	208	98065											
DNASE2B	58511	broad.mit.edu	37	chr1	84864332	84864332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtgctgggggcagcaAcaatttcatgcagaaatgaa	14	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:84864332A>G	uc001djt.1	+	1	118	c.85A>G	c.(85-87)ACA>GCA	p.T29A	UOX_uc009wcg.2_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	29					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GGGGGCAGCAACAATTTCATG	0.468								Direct_reversal_of_damage					G	84864332	A	G	84864332	3	3	189	1	0	0	0	0	1	0	0	0	4665	43	2	3	87	3	DNASE2B	1	84864332	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2491441	84864332	164386289	209	98066											
SSX2IP	117178	broad.mit.edu	37	chr1	85130189	85130189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttctcttcatatcatgaTtatactgagtagctcgactt	5	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:85130189T>C	uc001dkh.2	-	7	859	c.584A>G	c.(583-585)AAT>AGT	p.N195S	SSX2IP_uc001dkf.2_Missense_Mutation_p.N168S|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.N168S|SSX2IP_uc001dki.2_Missense_Mutation_p.N195S|SSX2IP_uc010osa.1_Missense_Mutation_p.N168S|SSX2IP_uc001dkj.2_Missense_Mutation_p.N195S|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.N191S	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	195	Potential.				cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATATCATGATTATACTGAGT	0.323													C	85130189	T	C	85130189	3	2	189	1	0	0	0	0	1	0	0	0	15203	1493	52	3	1296	3	SSX2IP	1	85130189	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	265857	85130189	164120432	210	98067											
MCOLN2	255231	broad.mit.edu	37	chr1	85424273	85424273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtatatacactgcagctgTagtcatcttcatctgtacca	7	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:85424273T>C	uc001dkm.2	-	3	591	c.350A>G	c.(349-351)TAC>TGC	p.Y117C	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	117						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACTGCAGCTGTAGTCATCTTC	0.368													C	85424273	T	C	85424273	3	2	189	1	0	0	0	0	1	0	0	0	9396	1638	57	3	1398	3	MCOLN2	1	85424273	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	294084	85424273	163826348	211	98068											
MCOLN2	255231	broad.mit.edu	37	chr1	85431242	85431242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataggttacctgtgtggtgAccatgactatcttcaaaatc	9	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:85431242A>G	uc001dkm.2	-	2	468	c.227T>C	c.(226-228)GTC>GCC	p.V76A	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	76						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CTGTGTGGTGACCATGACTAT	0.393													G	85431242	A	G	85431242	3	3	189	1	0	0	0	0	1	0	0	0	9396	275	10	3	1525	3	MCOLN2	1	85431242	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6969	85431242	163819379	212	98069											
WDR63	126820	broad.mit.edu	37	chr1	85598648	85598648	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccttggcctaatcaaagtCacagagaaggggtcatacat	9	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:85598648C>G	uc001dkt.2	+	23	2834	c.2643C>G	c.(2641-2643)GTC>GTG	p.V881V	WDR63_uc009wcl.2_Silent_p.V842V	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	881										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAATCAAAGTCACAGAGAAGG	0.398													G	85598648	C	G	85598648	2	3	189	1	0	0	0	0	0	0	0	1	17311	813	29	5		5	WDR63	1	85598648	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	167406	85598648	163651973	213	98070											
COL24A1	255631	broad.mit.edu	37	chr1	86591117	86591117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcttgtcttttatacAcggtttcagaatcatttttt	7	6	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:86591117A>G	uc001dlj.2	-	3	944	c.902T>C	c.(901-903)GTG>GCG	p.V301A	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.V301A	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	301					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCTTTTATACACGGTTTCAGA	0.398													G	86591117	A	G	86591117	3	3	189	1	0	0	0	0	1	0	0	0	3683	159	6	3	4474	3	COL24A1	1	86591117	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	992469	86591117	162659504	214	98071											
COL24A1	255631	broad.mit.edu	37	chr1	86591185	86591185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatgtatcctctgacagTactttttcagcaaatagttt	6	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:86591185T>C	uc001dlj.2	-	3	876	c.834A>G	c.(832-834)GTA>GTG	p.V278V	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.V278V	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	278					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTCTGACAGTACTTTTTCAG	0.378													C	86591185	T	C	86591185	2	2	189	1	0	0	0	0	0	0	0	1	3683	1625	57	3		3	COL24A1	1	86591185	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	68	86591185	162659436	215	98072											
CLCA2	9635	broad.mit.edu	37	chr1	86921029	86921029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctaacattgcccaggCgcctctgtttattcccccca	6	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:86921029C>T	uc001dlr.3	+	14	2813	c.2651C>T	c.(2650-2652)GCG>GTG	p.A884V		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	884	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATTGCCCAGGCGCCTCTGTTT	0.418													T	86921029	C	T	86921029	3	4	189	1	0	0	0	0	1	0	0	0	3458	768	27	1	2705	1	CLCA2	1	86921029	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	329844	86921029	162329592	216	98073											
CCBL2	56267	broad.mit.edu	37	chr1	89408756	89408756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttacagaatgctgaaaCggggatggctgatagtttct	13	5	1	4	rs145574653	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:89408756C>T	uc001dmp.2	-	13	1611	c.1234G>A	c.(1234-1236)GTT>ATT	p.V412I	CCBL2_uc001dmq.2_Missense_Mutation_p.V378I|CCBL2_uc001dmr.2_Missense_Mutation_p.V248I	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	412					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			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AATGCTGAAACGGGGATGGCT	0.318													T	89408756	C	T	89408756	3	4	189	1	0	0	0	0	1	0	0	0	2733	536	19	1	138	1	CCBL2	1	89408756	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2487727	89408756	159841865	217	98074											
GBP3	2635	broad.mit.edu	37	chr1	89479832	89479832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttgtccatctgcttccaAgtccagggagaaatctctca	10	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:89479832A>G	uc001dmt.2	-	5	764	c.559T>C	c.(559-561)TTG>CTG	p.L187L	GBP3_uc010oss.1_Silent_p.L108L|GBP3_uc001dmu.2_Silent_p.L53L|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	187						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCTGCTTCCAAGTCCAGGGAG	0.458													G	89479832	A	G	89479832	2	3	189	1	0	0	0	0	0	0	0	1	6275	69	3	3		3	GBP3	1	89479832	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	71076	89479832	159770789	218	98075											
GBP6	163351	broad.mit.edu	37	chr1	89848299	89848299	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatactgccaggctaaacTcaatgagctctcaaagggac	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:89848299T>G	uc001dnf.2	+	8	1503	c.1229T>G	c.(1228-1230)CTC>CGC	p.L410R	GBP6_uc010ost.1_Missense_Mutation_p.L280R	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	410							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGGCTAAACTCAATGAGCTC	0.433													G	89848299	T	G	89848299	3	3	189	1	0	0	0	0	1	0	0	0	6278	1551	54	5	1255	5	GBP6	1	89848299	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	368467	89848299	159402322	219	98076											
LRRC8B	23507	broad.mit.edu	37	chr1	90058418	90058418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgaatttgtcccctcAtgtgggtgagctgtcaaacc	10	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:90058418A>G	uc001dni.2	+	8	2735	c.2228A>G	c.(2227-2229)CAT>CGT	p.H743R	LRRC8B_uc001dnh.2_Missense_Mutation_p.H743R|LRRC8B_uc001dnj.2_Missense_Mutation_p.H743R	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	743	LRR 12.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTGTCCCCTCATGTGGGTGAG	0.443													G	90058418	A	G	90058418	3	3	189	1	0	0	0	0	1	0	0	0	9022	217	8	3	2234	3	LRRC8B	1	90058418	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	210119	90058418	159192203	220	98077											
ZNF326	284695	broad.mit.edu	37	chr1	90493124	90493124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggaaatatacagggagTaggggaaggaggggaagtag	20	2	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:90493124T>C	uc001dnq.2	+	12	1752	c.1613T>C	c.(1612-1614)GTA>GCA	p.V538A	ZNF326_uc009wda.1_Missense_Mutation_p.V449A|ZNF326_uc001dnr.2_Missense_Mutation_p.V332A	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	538	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		atacagggagtaggggaagga	0.04													C	90493124	T	C	90493124	3	2	189	1	0	0	0	0	1	0	0	0	17843	1638	57	3	1663	3	ZNF326	1	90493124	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	434706	90493124	158757497	221	98078											
ZNF644	84146	broad.mit.edu	37	chr1	91405701	91405701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatgatggctcttcggTactgaaagtagcaggtgact	13	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:91405701T>C	uc001dnw.2	-	3	1352	c.1210A>G	c.(1210-1212)ACC>GCC	p.T404A	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.T404A	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGCTCTTCGGTACTGAAAGTA	0.398													C	91405701	T	C	91405701	3	2	189	1	0	0	0	0	1	0	0	0	18057	1638	57	3	2789	3	ZNF644	1	91405701	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	912577	91405701	157844920	222	98079											
ZNF644	84146	broad.mit.edu	37	chr1	91406703	91406703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcagagtcaacgtatTatttttctgaaatgatgttt	8	5	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:91406703T>C	uc001dnw.2	-	3	350	c.208A>G	c.(208-210)AAT>GAT	p.N70D	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.N70D	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTCAACGTATTATTTTTCTGA	0.393													C	91406703	T	C	91406703	3	2	189	1	0	0	0	0	1	0	0	0	18057	1754	61	3	3791	3	ZNF644	1	91406703	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1002	91406703	157843918	223	98080											
CDC7	8317	broad.mit.edu	37	chr1	91977451	91977451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtgatgttaagcccagCaattttttatataataggcg	8	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:91977451C>T	uc001doe.2	+	6	708	c.543C>T	c.(541-543)AGC>AGT	p.S181S	CDC7_uc001dof.2_Silent_p.S181S|CDC7_uc010osw.1_Silent_p.S153S|CDC7_uc009wdc.2_Silent_p.S181S|CDC7_uc009wdd.2_5'Flank	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	181	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			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		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)		TTAAGCCCAGCAATTTTTTAT	0.289													T	91977451	C	T	91977451	2	4	189	1	0	0	0	0	0	0	0	1	3084	709	25	2		2	CDC7	1	91977451	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	570748	91977451	157273170	224	98081											
CDC7	8317	broad.mit.edu	37	chr1	91977476	91977476	+	Frame_Shift_Del	DEL	A	A	-													ttttatataataggcgcctgAaaaagtaagtatgaagagtt					rs13447504	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:91977475_91977475GA>G	uc001doe.3	+	5	732	c.567_567GA>G	c.(565-567)ctgfs	p.L189fs	CDC7_uc001dof.3_Frame_Shift_Del_p.L189fs|CDC7_uc010osw.2_Frame_Shift_Del_p.L161fs|CDC7_uc009wdc.3_Frame_Shift_Del_p.L189fs|CDC7_uc009wdd.3_5'Flank	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	189	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|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)		ATAGGCGCCTGAAAAAGTAAG	0.274													-	91977476	A	-	91977476	7	5	189	1	0	1	0	1	0	0	0	0	3084	247	9	0	586	0	CDC7	1	91977476	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	25	91977476	157273145	225	98082											
GLMN	11146	broad.mit.edu	37	chr1	92728468	92728468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaatacctcaataaattTaatgaagccataatcctgtt	3	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:92728468T>C	uc001dor.2	-	16	1540	c.1425A>G	c.(1423-1425)TTA>TTG	p.L475L	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.L461L	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	475					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			skin(1)	1		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)		TCAATAAATTTAATGAAGCCA	0.264									Multiple_Glomus_Tumors_(of_the_Skin)_Familial				C	92728468	T	C	92728468	2	2	189	1	0	0	0	0	0	0	0	1	6448	1751	61	3		3	GLMN	1	92728468	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	750992	92728468	156522153	226	98083											
CCDC18	343099	broad.mit.edu	37	chr1	93705385	93705385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaattgagagatgtActacagaaggctcaattatc	9	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:93705385A>G	uc001dpq.2	+	21	3435	c.3267A>G	c.(3265-3267)GTA>GTG	p.V1089V	CCDC18_uc009wdl.1_Silent_p.V606V	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	970	Potential.									ovary(2)|breast(2)|pancreas(1)	5		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)		TGAGAGATGTACTACAGAAGG	0.343													G	93705385	A	G	93705385	2	3	189	1	0	0	0	0	0	0	0	1	2794	378	14	3		3	CCDC18	1	93705385	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	976917	93705385	155545236	227	98084											
ABCA4	24	broad.mit.edu	37	chr1	94544999	94544999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgactccaggctctggatcAatgcattacaaaaggatgct	9	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:94544999A>G	uc001dqh.2	-	9	1222	c.1118T>C	c.(1117-1119)TTG>TCG	p.L373S	ABCA4_uc010otn.1_Missense_Mutation_p.L373S	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	373	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		GCTCTGGATCAATGCATTACA	0.443													G	94544999	A	G	94544999	3	3	189	1	0	0	0	0	1	0	0	0	34	131	5	3	5871	3	ABCA4	1	94544999	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	839614	94544999	154705622	228	98085											
ABCD3	5825	broad.mit.edu	37	chr1	94941258	94941258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtagaaaaattttgtAacagtgtagtcgatctgtat	9	3	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:94941258A>G	uc001dqn.3	+	7	694	c.592A>G	c.(592-594)AAC>GAC	p.N198D	ABCD3_uc001dqm.3_Missense_Mutation_p.N198D|ABCD3_uc010oto.1_Missense_Mutation_p.N222D|ABCD3_uc010otp.1_Missense_Mutation_p.N125D|ABCD3_uc009wdr.2_Missense_Mutation_p.N198D	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	198	ABC transmembrane type-1.|Interaction with PEX19.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAAATTTTGTAACAGTGTAGT	0.294													G	94941258	A	G	94941258	3	3	189	1	0	0	0	0	1	0	0	0	62	362	13	3	618	3	ABCD3	1	94941258	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	396259	94941258	154309363	229	98086											
ABCD3	5825	broad.mit.edu	37	chr1	94980753	94980753	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaatctctttggaaacatCatgaggtttgtatttctttc	8	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:94980753C>T	uc001dqn.3	+	22	1999	c.1897C>T	c.(1897-1899)CAT>TAT	p.H633Y	ABCD3_uc010oto.1_Missense_Mutation_p.H657Y|ABCD3_uc010otp.1_Missense_Mutation_p.H560Y|ABCD3_uc009wdr.2_Missense_Mutation_p.H523Y|ABCD3_uc001dqo.3_Missense_Mutation_p.H321Y	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	633	ABC transporter.			VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470).	peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTGGAAACATCATGAGGTTTG	0.289													T	94980753	C	T	94980753	3	4	189	1	0	0	0	0	1	0	0	0	62	826	29	4	2014	4	ABCD3	1	94980753	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	39495	94980753	154269868	230	98087											
RWDD3	25950	broad.mit.edu	37	chr1	95709937	95709937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtgactgtgaaagagAatttacttgagcaagcagag	13	4	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:95709937A>G	uc009wdu.2	+	2	332	c.256A>G	c.(256-258)AAT>GAT	p.N86D	RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.N71D|RWDD3_uc009wdt.2_Missense_Mutation_p.N86D|RWDD3_uc001drf.3_Missense_Mutation_p.N86D|RWDD3_uc001drh.3_Missense_Mutation_p.N71D|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.N86D	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3 isoform a	86	RWD.					cytoplasm|nucleus	protein binding			ovary(1)	1		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TGTGAAAGAGAATTTACTTGA	0.463													G	95709937	A	G	95709937	3	3	189	1	0	0	0	0	1	0	0	0	13757	246	9	3	262	3	RWDD3	1	95709937	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	729184	95709937	153540684	231	98088											
RWDD3	25950	broad.mit.edu	37	chr1	95710148	95710148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagcaaagactaaatatgTcaaaattgtggagaagtggg	13	3	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:95710148T>C	uc009wdu.2	+	2	543	c.467T>C	c.(466-468)GTC>GCC	p.V156A	RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.V141A|RWDD3_uc009wdt.2_Missense_Mutation_p.V156A|RWDD3_uc001drf.3_Missense_Mutation_p.V156A|RWDD3_uc001drh.3_Missense_Mutation_p.V141A|RWDD3_uc009wdv.2_RNA|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.V156A	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3 isoform a	156						cytoplasm|nucleus	protein binding			ovary(1)	1		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		ACTAAATATGTCAAAATTGTG	0.383													C	95710148	T	C	95710148	3	2	189	1	0	0	0	0	1	0	0	0	13757	1667	58	3	473	3	RWDD3	1	95710148	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	211	95710148	153540473	232	98089											
FRRS1	391059	broad.mit.edu	37	chr1	100212942	100212942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagatcctcagcattacGcgcttctaggagaaagcctt	8	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:100212942G>A	uc001dsh.1	-	4	843	c.241C>T	c.(241-243)CGT>TGT	p.R81C		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	81	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			skin(1)	1		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)		TCAGCATTACGCGCTTCTAGG	0.388													A	100212942	G	A	100212942	3	1	189	1	0	0	0	0	1	0	0	0	6060	1087	38	1	1695	1	FRRS1	1	100212942	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4502794	100212942	149037679	233	98090											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	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)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	189	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	676895	100889837	148360784	234	98091											
CDC14A	8556	broad.mit.edu	37	chr1	100964808	100964808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcgagattcctgagccGttctatccctgtaagtgcgc	10	12	2	2	rs148639495	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:100964808G>A	uc001dtg.3	+	15	2233	c.1745G>A	c.(1744-1746)CGT>CAT	p.R582H	CDC14A_uc010oui.1_Missense_Mutation_p.R524H|CDC14A_uc001dtf.2_Missense_Mutation_p.R582H|CDC14A_uc009wed.1_Missense_Mutation_p.R289H|CDC14A_uc009wee.2_Missense_Mutation_p.R582H	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	582					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		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)		TTCCTGAGCCGTTCTATCCCT	0.592													A	100964808	G	A	100964808	3	1	189	1	0	0	0	0	1	0	0	0	3056	1145	40	1	1818	1	CDC14A	1	100964808	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	74971	100964808	148285813	235	98092											
VCAM1	7412	broad.mit.edu	37	chr1	101194879	101194879	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacgaacactcttatcTgtgcacagtgacttgtggac	10	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:101194879T>A	uc001dti.2	+	5	1265	c.1145T>A	c.(1144-1146)CTG>CAG	p.L382Q	VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.L320Q	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	382	Ig-like C2-type 4.|Extracellular (Potential).				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(1)	1		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)	CACTCTTATCTGTGCACAGTG	0.468													A	101194879	T	A	101194879	3	1	189	1	0	0	0	0	1	0	0	0	17134	1580	55	5	1163	5	VCAM1	1	101194879	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	230071	101194879	148055742	236	98093											
SLC30A7	148867	broad.mit.edu	37	chr1	101387377	101387377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctatctgttcaattcttatAgccattcttatagttgtaag	5	8	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:101387377A>G	uc001dtn.2	+	8	1009	c.822A>G	c.(820-822)ATA>ATG	p.I274M	SLC30A7_uc001dto.2_Missense_Mutation_p.I274M	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	274	Helical; (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CAATTCTTATAGCCATTCTTA	0.323													G	101387377	A	G	101387377	3	3	189	1	0	0	0	0	1	0	0	0	14560	410	15	3	852	3	SLC30A7	1	101387377	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	192498	101387377	147863244	237	98094											
SLC30A7	148867	broad.mit.edu	37	chr1	101431471	101431471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacacataatatttttacTcaggtatgtcttttttacta	3	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:101431471T>C	uc001dtn.2	+	10	1267	c.1080T>C	c.(1078-1080)ACT>ACC	p.T360T	SLC30A7_uc001dto.2_Silent_p.T360T	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	360	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		ATATTTTTACTCAGGTATGTC	0.269													C	101431471	T	C	101431471	2	2	189	1	0	0	0	0	0	0	0	1	14560	1538	54	3		3	SLC30A7	1	101431471	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	44094	101431471	147819150	238	98095											
NTNG1	22854	broad.mit.edu	37	chr1	107867505	107867505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgagctacacttggcacGctacttttacgcgatctcag	9	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:107867505G>A	uc001dvh.3	+	3	1566	c.848G>A	c.(847-849)CGC>CAC	p.R283H	NTNG1_uc001dvf.3_Missense_Mutation_p.R283H|NTNG1_uc010out.1_Missense_Mutation_p.R283H|NTNG1_uc001dvc.3_Missense_Mutation_p.R283H|NTNG1_uc001dvd.1_Missense_Mutation_p.R283H	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	283	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CACTTGGCACGCTACTTTTAC	0.453													A	107867505	G	A	107867505	3	1	189	1	0	0	0	0	1	0	0	0	10704	1087	38	1	854	1	NTNG1	1	107867505	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6436034	107867505	141383116	239	98096											
VAV3	10451	broad.mit.edu	37	chr1	108507366	108507366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttaagcagctggcagagCaggactccatcgcggagggt	15	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:108507366C>T	uc001dvk.1	-	1	180	c.126G>A	c.(124-126)CTG>CTA	p.L42L	VAV3_uc010ouw.1_Silent_p.L42L|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Silent_p.L42L	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	42	CH.				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			ovary(5)|lung(2)|breast(2)	9		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)		GCTGGCAGAGCAGGACTCCAT	0.637													T	108507366	C	T	108507366	2	4	189	1	0	0	0	0	0	0	0	1	17130	697	25	2		2	VAV3	1	108507366	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	639861	108507366	140743255	240	98097											
TAF13	6884	broad.mit.edu	37	chr1	109607261	109607261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttcgaatcaagaagaCgatatcttcaacttgtactc	6	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:109607261C>T	uc001dwm.1	-	4	314	c.259G>A	c.(259-261)GTC>ATC	p.V87I		NM_005645	NP_005636	Q15543	TAF13_HUMAN	TBP-associated factor 13	87					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity				0		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)		ATCAAGAAGACGATATCTTCA	0.343													T	109607261	C	T	109607261	3	4	189	1	0	0	0	0	1	0	0	0	15514	536	19	1	119	1	TAF13	1	109607261	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1099895	109607261	139643360	241	98098											
KIAA1324	57535	broad.mit.edu	37	chr1	109742806	109742806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctctgcaggcacctgTactgccatcctgctcaccgt	9	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:109742806T>C	uc001dwq.2	+	21	2890	c.2754T>C	c.(2752-2754)TGT>TGC	p.C918C	KIAA1324_uc009wex.1_Silent_p.C868C|KIAA1324_uc009wey.2_Silent_p.C831C|KIAA1324_uc010ovg.1_Silent_p.C816C|KIAA1324_uc001dwr.2_Silent_p.C568C|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	918	Helical; (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		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)		CAGGCACCTGTACTGCCATCC	0.488													C	109742806	T	C	109742806	2	2	189	1	0	0	0	0	0	0	0	1	8223	1644	57	3		3	KIAA1324	1	109742806	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	135545	109742806	139507815	242	98099											
CELSR2	1952	broad.mit.edu	37	chr1	109793883	109793883	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggaggatgacaatgaTaatgccccccagtttagtga	11	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:109793883T>A	uc001dxa.3	+	1	1243	c.1182T>A	c.(1180-1182)GAT>GAA	p.D394E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	394	Cadherin 2.|Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		ATGACAATGATAATGCCCCCC	0.577													A	109793883	T	A	109793883	3	1	189	1	0	0	0	0	1	0	0	0	3222	1403	49	5	1184	5	CELSR2	1	109793883	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	51077	109793883	139456738	243	98100											
GNAT2	2780	broad.mit.edu	37	chr1	110151277	110151277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcggagtcattaagctggTattctgcagctctctcgaag	11	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:110151277T>C	uc001dya.2	-	4	650	c.437A>G	c.(436-438)TAC>TGC	p.Y146C		NM_005272	NP_005263	P19087	GNAT2_HUMAN	guanine nucleotide binding protein, alpha	146					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATTAAGCTGGTATTCTGCAGC	0.517													C	110151277	T	C	110151277	3	2	189	1	0	0	0	0	1	0	0	0	6512	1638	57	3	647	3	GNAT2	1	110151277	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	357394	110151277	139099344	244	98101											
EPS8L3	79574	broad.mit.edu	37	chr1	110301149	110301149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccccaaacttactgtGctctagggtcctctggtggg	11	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:110301149G>A	uc001dyr.1	-	7	743	c.598C>T	c.(598-600)CAC>TAC	p.H200Y	EPS8L3_uc001dys.1_Missense_Mutation_p.H200Y|EPS8L3_uc001dyq.1_Missense_Mutation_p.H201Y|EPS8L3_uc009wfm.1_Missense_Mutation_p.H167Y|EPS8L3_uc009wfn.1_Missense_Mutation_p.H167Y|EPS8L3_uc009wfo.1_Missense_Mutation_p.H147Y	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	200	Pro-rich.					cytoplasm	protein binding			ovary(2)|skin(1)	3		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)		AACTTACTGTGCTCTAGGGTC	0.577													A	110301149	G	A	110301149	3	1	189	1	0	0	0	0	1	0	0	0	5197	1319	46	2	1235	2	EPS8L3	1	110301149	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	149872	110301149	138949472	245	98102											
SLC6A17	388662	broad.mit.edu	37	chr1	110734660	110734660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttctttgccttgggcCtgggctttggtggtgtcatt	14	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:110734660C>A	uc009wfq.2	+	7	1392	c.931C>A	c.(931-933)CTG>ATG	p.L311M	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	311	Helical; Name=6; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		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)		TGCCTTGGGCCTGGGCTTTGG	0.557													A	110734660	C	A	110734660	3	1	189	1	0	0	0	0	1	0	0	0	14680	680	24	5	953	5	SLC6A17	1	110734660	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	433511	110734660	138515961	246	98103											
RBM15	64783	broad.mit.edu	37	chr1	110888168	110888169	+	Frame_Shift_Ins	INS	-	-	T													tctctctcacagggtttggtINStttcagataggagttaggta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:110888167_110888168G>GT	uc001dzl.1	+	1	2953_2954	c.2870_2871G>GT	c.(2869-2871)ggtfs	p.G957fs	RBM15_uc001dzm.1_Intron|BC069739_uc001dzn.1_Non-coding_Transcript	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	957					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein 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)		ACAGGGTTTGGTTTTCAGATAG	0.386			T	MKL1	acute megakaryocytic leukemia								T	110888169	-	T	110888168	7	5	189	1	0	1	1	0	0	0	0	0	13116	1712	60	0	2877	0	RBM15	1	110888168	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	153508	110888168	138362453	247	98104											
C1orf103	55791	broad.mit.edu	37	chr1	111490689	111490689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatggtttcttctaactcCggtggtgtcactgggaaaat	11	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:111490689C>T	uc001eaa.2	-	4	2458	c.2202G>A	c.(2200-2202)CCG>CCA	p.P734P	C1orf103_uc001dzz.2_Silent_p.P198P|C1orf103_uc001eab.2_Silent_p.P198P|C1orf103_uc001eac.1_Silent_p.P197P	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		CTTCTAACTCCGGTGGTGTCA	0.378													T	111490689	C	T	111490689	2	4	189	1	0	0	0	0	0	0	0	1	1977	639	23	1		1	C1orf103	1	111490689	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	602521	111490689	137759932	248	98105											
CHIA	27159	broad.mit.edu	37	chr1	111857963	111857963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcaaattcctgcgccAgtatgagtttgacgggctgg	12	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:111857963A>C	uc001eas.2	+	6	489	c.386A>C	c.(385-387)CAG>CCG	p.Q129P	CHIA_uc001ear.2_Missense_Mutation_p.Q21P|CHIA_uc001eaq.2_Missense_Mutation_p.Q21P|CHIA_uc009wgc.2_Missense_Mutation_p.Q21P|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	129					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			ovary(1)	1		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)		TTCCTGCGCCAGTATGAGTTT	0.552													C	111857963	A	C	111857963	3	2	189	1	0	0	0	0	1	0	0	0	3342	188	7	5	404	5	CHIA	1	111857963	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	367274	111857963	137392658	249	98106											
ADORA3	140	broad.mit.edu	37	chr1	112031596	112031596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagttgcagatggcagaagCcgtgtccagcacaaagcttc	12	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:112031596C>T	uc001ebf.2	-	3	1275	c.508G>A	c.(508-510)GCT>ACT	p.A170T	ADORA3_uc001ebg.3_Missense_Mutation_p.A89T	NM_020683	NP_065734	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 1	Error:Variant_position_missing_in_P33765_after_alignment					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		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)	ATGGCAGAAGCCGTGTCCAGC	0.403													T	112031596	C	T	112031596	3	4	189	1	0	0	0	0	1	0	0	0	329	739	26	2	551	2	ADORA3	1	112031596	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	173633	112031596	137219025	250	98107											
KCND3	3752	broad.mit.edu	37	chr1	112525069	112525069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcggtagaagttgagcaCgcagcggaacacctcggggt	16	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:112525069C>T	uc001ebu.1	-	2	760	c.280G>A	c.(280-282)GTG>ATG	p.V94M	KCND3_uc001ebv.1_Missense_Mutation_p.V94M	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	94	Cytoplasmic (Potential).		V -> M (in a colorectal cancer sample; somatic mutation).			sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.V94M(1)		ovary(2)|large_intestine(1)	3		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)		AAGTTGAGCACGCAGCGGAAC	0.612													T	112525069	C	T	112525069	3	4	189	1	0	0	0	0	1	0	0	0	8020	536	19	1	1715	1	KCND3	1	112525069	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	493473	112525069	136725552	251	98108											
PPM1J	333926	broad.mit.edu	37	chr1	113252813	113252813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgcctggccctcccaggGggatgacgaagacagagatg	14	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:113252813G>A	uc001ect.1	-	10	1517	c.1490C>T	c.(1489-1491)CCC>CTC	p.P497L	RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.P291L	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	protein phosphatase 1J (PP2C domain containing)	497	PP2C-like.									breast(2)|central_nervous_system(1)	3	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)		CCCTCCCAGGGGGATGACGAA	0.612													A	113252813	G	A	113252813	3	1	189	1	0	0	0	0	1	0	0	0	12342	1232	43	4	31	4	PPM1J	1	113252813	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	727744	113252813	135997808	252	98109											
SLC16A1	6566	broad.mit.edu	37	chr1	113471890	113471890	+	Frame_Shift_Del	DEL	G	G	-													cccagccccagcctccatctGggggggtgtatccaactgga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:113471889_113471889TG>T	uc001ecx.3	-	1	874	c.42_42CA>A	c.(40-42)ccafs	p.P14fs	SLC16A1_uc001ecy.3_Frame_Shift_Del_p.P14fs|SLC16A1_uc001ecz.3_Frame_Shift_Del_p.P14fs	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	14					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGCCTCCATCTGGGGGGGTGT	0.428													-	113471890	G	-	113471890	7	5	189	1	0	1	0	1	0	0	0	0	14402	1348	47	0	1477	0	SLC16A1	1	113471890	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	219077	113471890	135778731	253	98110											
LRIG2	9860	broad.mit.edu	37	chr1	113638869	113638869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctataaccagctgaccCgcctggatgaatctgccttt	8	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:113638869C>T	uc001edf.1	+	8	1171	c.973C>T	c.(973-975)CGC>TGC	p.R325C	LRIG2_uc009wgn.1_Missense_Mutation_p.R222C	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	325	LRR 11.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	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)		CCAGCTGACCCGCCTGGATGA	0.373													T	113638869	C	T	113638869	3	4	189	1	0	0	0	0	1	0	0	0	8945	652	23	1	1003	1	LRIG2	1	113638869	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	166979	113638869	135611752	254	98111											
DCLRE1B	64858	broad.mit.edu	37	chr1	114450657	114450657	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatacacaccatccatgCtaaaggagccagccctgaca	7	14	0	1	rs34762757		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:114450657C>G	uc001eeg.2	+	3	553	c.382C>G	c.(382-384)CTA>GTA	p.L128V	AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|DCLRE1B_uc001eeh.2_Missense_Mutation_p.L2V|DCLRE1B_uc001eei.2_Missense_Mutation_p.L2V	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	128					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				0	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)		ACCATCCATGCTAAAGGAGCC	0.478								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					G	114450657	C	G	114450657	3	3	189	1	0	0	0	0	1	0	0	0	4295	796	28	5	392	5	DCLRE1B	1	114450657	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	811788	114450657	134799964	255	98112											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454019	114454019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagctcccaccctgatatcCacgtcatcccttactctgac	4	18	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:114454019C>A	uc001eeg.2	+	4	976	c.805C>A	c.(805-807)CAC>AAC	p.H269N	DCLRE1B_uc001eeh.2_Missense_Mutation_p.H143N|DCLRE1B_uc001eei.2_Missense_Mutation_p.H143N	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	269					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				0	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)		CCCTGATATCCACGTCATCCC	0.552								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	114454019	C	A	114454019	3	1	189	1	0	0	0	0	1	0	0	0	4295	594	21	5	819	5	DCLRE1B	1	114454019	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3362	114454019	134796602	256	98113											
DENND2C	163259	broad.mit.edu	37	chr1	115168676	115168676	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtaaatgtgaaatattgTattctttatcctgtcagaat	6	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:115168676T>C	uc001efd.1	-	4	632	c.-70A>G	c.(-72--68)ATACA>ATGCA		DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Translation_Start_Site	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											skin(3)	3	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)		TGAAATATTGTATTCTTTATC	0.328													C	115168676	T	C	115168676	1	2	189	1	0	0	0	0	0	0	0	0	4430	1653	57	3		3	DENND2C	1	115168676	Translation_Start_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	714657	115168676	134081945	257	98114											
SYCP1	6847	broad.mit.edu	37	chr1	115454180	115454180	+	Frame_Shift_Del	DEL	A	A	-													tcaaaagaggttaaagatctAaaaactgagcttgaaaacga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:115454179_115454179TA>T	uc001efr.3	+	17	1714	c.1505_1505TA>T	c.(1504-1506)ctafs	p.L502fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.L502fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.L502fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	502				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.L502I(1)	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)		GTTAAAGATCTAAAAACTGAG	0.264													-	115454180	A	-	115454180	7	5	189	1	0	1	0	1	0	0	0	0	15428	349	13	0	1572	0	SYCP1	1	115454180	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	285504	115454180	133796441	258	98115											
CD58	965	broad.mit.edu	37	chr1	117078662	117078663	+	Frame_Shift_Ins	INS	-	-	T													ttgctaagagtacactgtatINStttttgtggaagatcatttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117078661_117078662A>AT	uc001egm.3	-	2	674_675	c.553_554T>AT	c.(553-555)atafs	p.I185fs	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Frame_Shift_Ins_p.I185fs|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Frame_Shift_Ins_p.I185fs	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	185	Ig-like C2-type.				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)		AGTACACTGTATTTTTTGTGGA	0.342													T	117078663	-	T	117078662	7	5	189	1	0	1	1	0	0	0	0	0	3025	1493	52	0	219	0	CD58	1	117078662	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	1624482	117078662	132171959	259	98116											
IGSF3	3321	broad.mit.edu	37	chr1	117122169	117122169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgagccggtagagcaccGgggagagcctctggaagcga	17	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117122169G>A	uc001egr.1	-	10	3884	c.3179C>T	c.(3178-3180)CCG>CTG	p.P1060L	IGSF3_uc001egq.1_Missense_Mutation_p.P1080L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1060	Ig-like C2-type 8.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		GTAGAGCACCGGGGAGAGCCT	0.637													A	117122169	G	A	117122169	3	1	189	1	0	0	0	0	1	0	0	0	7601	1116	39	1	413	1	IGSF3	1	117122169	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	43507	117122169	132128452	260	98117											
IGSF3	3321	broad.mit.edu	37	chr1	117156447	117156447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtcatagcataccacgAcccatccggatcctggatcc	9	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117156447A>G	uc001egr.1	-	4	1477	c.772T>C	c.(772-774)TCG>CCG	p.S258P	IGSF3_uc001egq.1_Missense_Mutation_p.S258P	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	258	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		GCATACCACGACCCATCCGGA	0.602													G	117156447	A	G	117156447	3	3	189	1	0	0	0	0	1	0	0	0	7601	275	10	3	2908	3	IGSF3	1	117156447	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	34278	117156447	132094174	261	98118											
CD2	914	broad.mit.edu	37	chr1	117297441	117297441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaaggaaaaagatacaTataagctatttaaaaatgga	6	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117297441T>C	uc001egu.3	+	2	279	c.250T>C	c.(250-252)TAT>CAT	p.Y84H	CD2_uc010owz.1_Missense_Mutation_p.Y84H|CD2_uc010oxa.1_Missense_Mutation_p.Y84H	NM_001767	NP_001758	P06729	CD2_HUMAN	CD2 molecule precursor	84	Extracellular (Potential).|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			breast(1)	1	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)	AAAAGATACATATAAGCTATT	0.299													C	117297441	T	C	117297441	3	2	189	1	0	0	0	0	1	0	0	0	2979	1406	49	3	256	3	CD2	1	117297441	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	140994	117297441	131953180	262	98119											
CD101	9398	broad.mit.edu	37	chr1	117564494	117564494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatgtggaagacagcgatCggggcaaatatcactgtgct	13	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117564494C>T	uc010oxb.1	+	7	2375	c.2317C>T	c.(2317-2319)CGG>TGG	p.R773W	CD101_uc009whd.2_Missense_Mutation_p.R773W|CD101_uc010oxc.1_Missense_Mutation_p.R773W|CD101_uc010oxd.1_Missense_Mutation_p.R711W	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	773	Ig-like C2-type 6.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AGACAGCGATCGGGGCAAATA	0.438													T	117564494	C	T	117564494	3	4	189	1	0	0	0	0	1	0	0	0	2962	875	31	1	2343	1	CD101	1	117564494	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	267053	117564494	131686127	263	98120											
TTF2	8458	broad.mit.edu	37	chr1	117619362	117619362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccccaaccccttcctcGtcgtggtacccaacctgtgg	8	19	0	0	rs139705346	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117619362G>A	uc001egy.2	+	7	1510	c.1490G>A	c.(1489-1491)CGT>CAT	p.R497H	TTF2_uc001egx.1_Missense_Mutation_p.R497H	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	497					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			ovary(1)	1	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)		CCCCTTCCTCGTCGTGGTACC	0.547													A	117619362	G	A	117619362	3	1	189	1	0	0	0	0	1	0	0	0	16716	1145	40	1	1516	1	TTF2	1	117619362	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	54868	117619362	131631259	264	98121											
TRIM45	80263	broad.mit.edu	37	chr1	117658232	117658232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgcagacccacacagTatagacgccaggttccttgg	10	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117658232T>C	uc001egz.2	-	4	2020	c.1432A>G	c.(1432-1434)ACT>GCT	p.T478A	TRIM45_uc009whe.2_Missense_Mutation_p.T460A|TRIM45_uc001eha.2_Missense_Mutation_p.T374A	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	478	Filamin.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	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)		ACCCACACAGTATAGACGCCA	0.488													C	117658232	T	C	117658232	3	2	189	1	0	0	0	0	1	0	0	0	16517	1638	57	3	322	3	TRIM45	1	117658232	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	38870	117658232	131592389	265	98122											
TRIM45	80263	broad.mit.edu	37	chr1	117663624	117663624	+	Frame_Shift_Del	DEL	C	C	-													cagagcttgtgtcagagtctCcccctcggatgtccactact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:117663623_117663623TC>T	uc001egz.2	-	0	789	c.201_201GA>A	c.(199-201)ggafs	p.G67fs	TRIM45_uc009whe.2_Frame_Shift_Del_p.G67fs	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	67						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)		TGTCAGAGTCTCCCCCTCGGA	0.542													-	117663624	C	-	117663624	7	5	189	1	0	1	0	1	0	0	0	0	16517	855	30	0	1566	0	TRIM45	1	117663624	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	5392	117663624	131586997	266	98123											
SPAG17	200162	broad.mit.edu	37	chr1	118530776	118530776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtgtctggtgggcatTttggaggcgtagccaaagac	14	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:118530776T>C	uc001ehk.2	-	39	5641	c.5573A>G	c.(5572-5574)AAA>AGA	p.K1858R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1858						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TGGTGGGCATTTTGGAGGCGT	0.363													C	118530776	T	C	118530776	3	2	189	1	0	0	0	0	1	0	0	0	14979	1841	64	3	1138	3	SPAG17	1	118530776	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	867152	118530776	130719845	267	98124											
WARS2	10352	broad.mit.edu	37	chr1	119575743	119575743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatgcccgcgctgcggcGcaccacttcctccacggaga	11	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:119575743G>A	uc001ehn.2	-	6	902	c.874C>T	c.(874-876)CGC>TGC	p.R292C	WARS2_uc010oxf.1_Missense_Mutation_p.R198C|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R235C|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	292					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	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)	GCGCTGCGGCGCACCACTTCC	0.602													A	119575743	G	A	119575743	3	1	189	1	0	0	0	0	1	0	0	0	17247	1087	38	1	212	1	WARS2	1	119575743	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1044967	119575743	129674878	268	98125											
REG4	83998	broad.mit.edu	37	chr1	120341118	120341118	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggtgcattataacttActgttattggagctcatctc	11	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:120341118A>G	uc001eig.2	-	6	849	c.409_splice	c.e6+1	p.N137_splice	REG4_uc001eif.2_Splice_Site_p.N137_splice	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4							extracellular region	sugar binding			ovary(1)	1	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ATTATAACTTACTGTTATTGG	0.507													G	120341118	A	G	120341118	5	3	189	1	0	0	0	0	0	0	1	0	13214	405	14	3	73	3	REG4	1	120341118	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	765375	120341118	128909503	269	98126											
NOTCH2	4853	broad.mit.edu	37	chr1	120458677	120458677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggtgggatagcaacTggctcactgagggaagcaca	16	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:120458677T>C	uc001eik.2	-	34	6924	c.6668A>G	c.(6667-6669)CAG>CGG	p.Q2223R		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2223	Cytoplasmic (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		GGATAGCAACTGGCTCACTGA	0.557			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				C	120458677	T	C	120458677	3	2	189	1	0	0	0	0	1	0	0	0	10548	1580	55	3	751	3	NOTCH2	1	120458677	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	117559	120458677	128791944	270	98127											
HFE2	148738	broad.mit.edu	37	chr1	145415465	145415465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactcggcgcaccgcccGcacctgccgcggggacctcg	13	20	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:145415465G>A	uc001eni.2	+	3	609	c.284G>A	c.(283-285)CGC>CAC	p.R95H	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	95					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCACCGCCCGCACCTGCCGC	0.682													A	145415465	G	A	145415465	3	1	189	1	0	0	0	0	1	0	0	0	7082	1087	38	1	290	1	HFE2	1	145415465	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24956788	145415465	103835156	271	98128											
ITGA10	8515	broad.mit.edu	37	chr1	145534184	145534184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatctgaaccaagatggTtttgctgatgtggctgtggg	14	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:145534184T>C	uc001eoa.2	+	14	1765	c.1689T>C	c.(1687-1689)GGT>GGC	p.G563G	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.G432G|ITGA10_uc009wiw.2_Silent_p.G420G|ITGA10_uc010oyw.1_Silent_p.G508G	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	563	Potential.|Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCAAGATGGTTTTGCTGATG	0.587													C	145534184	T	C	145534184	2	2	189	1	0	0	0	0	0	0	0	1	7873	1712	60	3		3	ITGA10	1	145534184	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	118719	145534184	103716437	272	98129											
BCL9	607	broad.mit.edu	37	chr1	147096052	147096052	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagttcagcagatgcagcActttgcaagcctggaggccc	11	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:147096052A>G	uc001epq.2	+	10	4313	c.3573A>G	c.(3571-3573)GCA>GCG	p.A1191A	BCL9_uc010ozr.1_Silent_p.A1105A	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1191	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CAGATGCAGCACTTTGCAAGC	0.632			T	IGH@|IGL@	B-ALL								G	147096052	A	G	147096052	2	3	189	1	0	0	0	0	0	0	0	1	1381	146	6	3		3	BCL9	1	147096052	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1561868	147096052	102154569	273	98130											
ACP6	51205	broad.mit.edu	37	chr1	147120182	147120182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattaagagcggtatgaaggTcacatcatgagccgcataga	11	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:147120182T>C	uc001epr.2	-	9	1473	c.1009A>G	c.(1009-1011)ACC>GCC	p.T337A		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	337					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					GGTATGAAGGTCACATCATGA	0.498													C	147120182	T	C	147120182	3	2	189	1	0	0	0	0	1	0	0	0	165	1667	58	3	285	3	ACP6	1	147120182	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	24130	147120182	102130439	274	98131											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858893	149858893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaaagaaaaccgaaagCcacaaagccaaaagcaaata	5	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:149858893C>T	uc001etd.2	+	1	369	c.369C>T	c.(367-369)AGC>AGT	p.S123S	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	123					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AAACCGAAAGCCACAAAGCCA	0.463													T	149858893	C	T	149858893	2	4	189	1	0	0	0	0	0	0	0	1	7178	738	26	2		2	HIST2H2AC	1	149858893	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2738711	149858893	99391728	275	98132											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859204	149859204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcttcgtcattcctcAcggctagttgcagatggcga	11	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:149859204A>G	uc001ete.2	-	1	263	c.263T>C	c.(262-264)GTG>GCG	p.V88A	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	88					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCATTCCTCACGGCTAGTTG	0.587													G	149859204	A	G	149859204	3	3	189	1	0	0	0	0	1	0	0	0	7177	159	6	3	133	3	HIST2H2AB	1	149859204	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	311	149859204	99391417	276	98133											
CA14	23632	broad.mit.edu	37	chr1	150235560	150235560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaccagagtgtgctctggAcagttttttatagaaggtcc	11	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:150235560A>G	uc001etx.2	+	7	991	c.682A>G	c.(682-684)ACA>GCA	p.T228A		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	228	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	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)			TGTGCTCTGGACAGTTTTTTA	0.512													G	150235560	A	G	150235560	3	3	189	1	0	0	0	0	1	0	0	0	2515	275	10	3	708	3	CA14	1	150235560	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	376356	150235560	99015061	277	98134											
RPRD2	23248	broad.mit.edu	37	chr1	150445370	150445370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccactggcagagcacGgagtggcaggggctgtggca	16	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:150445370G>A	uc009wlr.2	+	11	4147	c.3946G>A	c.(3946-3948)GGA>AGA	p.G1316R	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.G1290R	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1316	Pro-rich.						protein binding			ovary(1)	1						GGCAGAGCACGGAGTGGCAGG	0.607													A	150445370	G	A	150445370	3	1	189	1	0	0	0	0	1	0	0	0	13617	1117	39	1	3988	1	RPRD2	1	150445370	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	209810	150445370	98805251	278	98135											
ECM1	1893	broad.mit.edu	37	chr1	150484269	150484269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggagttccagcgctgcTgccgccaggggaacaatcac	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:150484269T>C	uc001eus.2	+	7	1244	c.1045T>C	c.(1045-1047)TGC>CGC	p.C349R	ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.C378R|ECM1_uc001euv.2_Missense_Mutation_p.C376R|ECM1_uc009wlu.2_Missense_Mutation_p.C109R	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	349	2 X approximate repeats.|2.				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			ovary(2)|central_nervous_system(1)	3	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)			CCAGCGCTGCTGCCGCCAGGG	0.627													C	150484269	T	C	150484269	3	2	189	1	0	0	0	0	1	0	0	0	4897	1580	55	3	1071	3	ECM1	1	150484269	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	38899	150484269	98766352	279	98136											
SETDB1	9869	broad.mit.edu	37	chr1	150931668	150931668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagggtatatgagtgtaAcaaacgctgcaaatgtgacc	10	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:150931668A>G	uc001evu.2	+	15	2535	c.2345A>G	c.(2344-2346)AAC>AGC	p.N782S	SETDB1_uc001evv.2_Missense_Mutation_p.N782S|SETDB1_uc009wmg.1_Missense_Mutation_p.N782S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	782	Pre-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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			TATGAGTGTAACAAACGCTGC	0.403													G	150931668	A	G	150931668	3	3	189	1	0	0	0	0	1	0	0	0	14138	43	2	3	2399	3	SETDB1	1	150931668	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	447399	150931668	98318953	280	98137											
SETDB1	9869	broad.mit.edu	37	chr1	150933482	150933482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacccaagaacaaggtgGcctcatggttgagctgcaat	11	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:150933482G>A	uc001evu.2	+	16	3134	c.2944G>A	c.(2944-2946)GCC>ACC	p.A982T	SETDB1_uc001evv.2_Missense_Mutation_p.A982T|SETDB1_uc009wmg.1_Missense_Mutation_p.A982T	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	982	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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			GAACAAGGTGGCCTCATGGTT	0.542													A	150933482	G	A	150933482	3	1	189	1	0	0	0	0	1	0	0	0	14138	1203	42	2	3002	2	SETDB1	1	150933482	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1814	150933482	98317139	281	98138											
BNIPL	149428	broad.mit.edu	37	chr1	151011305	151011305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcactttagccctgtgtgGccagcgccccatgcgcaagc	11	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:151011305G>A	uc001ewl.2	+	4	409	c.236G>A	c.(235-237)GGC>GAC	p.G79D	BNIPL_uc009wmi.2_5'UTR|BNIPL_uc009wmj.2_RNA	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	79					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	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)			GCCCTGTGTGGCCAGCGCCCC	0.577													A	151011305	G	A	151011305	3	1	189	1	0	0	0	0	1	0	0	0	1480	1203	42	2	250	2	BNIPL	1	151011305	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	77823	151011305	98239316	282	98139											
SEMA6C	10500	broad.mit.edu	37	chr1	151109535	151109535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtttacatactcgggctaCgcgggagaactgcacctagg	12	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:151109535C>T	uc001ewu.2	-	11	1072	c.772G>A	c.(772-774)GTA>ATA	p.V258I	SEMA6C_uc001ewv.2_Missense_Mutation_p.V258I|SEMA6C_uc001eww.2_Missense_Mutation_p.V218I|SEMA6C_uc010pcq.1_Missense_Mutation_p.V258I|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	258	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			ACTCGGGCTACGCGGGAGAAC	0.592													T	151109535	C	T	151109535	3	4	189	1	0	0	0	0	1	0	0	0	14041	536	19	1	2156	1	SEMA6C	1	151109535	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	98230	151109535	98141086	283	98140											
ZNF687	57592	broad.mit.edu	37	chr1	151259923	151259923	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttctgagggtccaaaggtgGtgagcgtacagttgggtgat	16	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:151259923G>C	uc001exq.2	+	2	1254	c.1156G>C	c.(1156-1158)GTG>CTG	p.V386L	ZNF687_uc001exp.1_Missense_Mutation_p.V395L|ZNF687_uc009wmo.2_Missense_Mutation_p.V386L|ZNF687_uc009wmp.2_Missense_Mutation_p.V386L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			TCCAAAGGTGGTGAGCGTACA	0.587													C	151259923	G	C	151259923	3	2	189	1	0	0	0	0	1	0	0	0	18089	1261	44	5	1158	5	ZNF687	1	151259923	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	150388	151259923	97990698	284	98141											
PSMB4	5692	broad.mit.edu	37	chr1	151372168	151372168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccttcatggatccggcGtctgcactttacagaggtcc	10	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:151372168G>A	uc001eyc.1	+	1	128	c.105G>A	c.(103-105)GCG>GCA	p.A35A	PSMB4_uc010pda.1_Silent_p.A35A|PSMB4_uc001eyb.1_Silent_p.A35A	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	35					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			ovary(2)	2	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)			TGGATCCGGCGTCTGCACTTT	0.627													A	151372168	G	A	151372168	2	1	189	1	0	0	0	0	0	0	0	1	12679	1132	40	1		1	PSMB4	1	151372168	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	112245	151372168	97878453	285	98142											
LINGO4	339398	broad.mit.edu	37	chr1	151774479	151774479	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagatggccagaggtggatCtccagctccttgagctgccc	13	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:151774479C>T	uc001ezf.1	-	2	892	c.702G>A	c.(700-702)GAG>GAA	p.E234E		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	234	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGGTGGATCTCCAGCTCCT	0.642													T	151774479	C	T	151774479	2	4	189	1	0	0	0	0	0	0	0	1	8817	912	32	4		4	LINGO4	1	151774479	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	402311	151774479	97476142	286	98143											
TCHH	7062	broad.mit.edu	37	chr1	152082769	152082769	+	Frame_Shift_Del	DEL	C	C	-													ttctcttctccggttcctctCccagcagctgctcttccttc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:152082768_152082768TC>T	uc009wne.1	-	2	3197	c.2925_2925GA>A	c.(2923-2925)ggafs	p.G975fs	TCHH_uc001ezp.2_Frame_Shift_Del_p.G975fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	975	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.G975R(1)		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)			ccggttcctctcccagcagct	0.567													-	152082769	C	-	152082769	7	5	189	1	0	1	0	1	0	0	0	0	15697	855	30	0	2911	0	TCHH	1	152082769	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	308290	152082769	97167852	287	98144											
RPTN	126638	broad.mit.edu	37	chr1	152129190	152129190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtggtgggagttctgccTttcttcctcgtgcctctgtc	11	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:152129190T>C	uc001ezs.1	-	3	450	c.385A>G	c.(385-387)AGG>GGG	p.R129G		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	129	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						GAGTTCTGCCTTTCTTCCTCG	0.542													C	152129190	T	C	152129190	3	2	189	1	0	0	0	0	1	0	0	0	13664	1608	56	3	1973	3	RPTN	1	152129190	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	46421	152129190	97121431	288	98145											
FLG	2312	broad.mit.edu	37	chr1	152278828	152278828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagccgtctcctgattgtTcctcattacgtgttgttctg	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:152278828T>C	uc001ezu.1	-	3	8570	c.8534A>G	c.(8533-8535)GAA>GGA	p.E2845G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2845	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGATTGTTCCTCATTACG	0.562									Ichthyosis				C	152278828	T	C	152278828	3	2	189	1	0	0	0	0	1	0	0	0	5922	1783	62	3	3655	3	FLG	1	152278828	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	149638	152278828	96971793	289	98146											
FLG	2312	broad.mit.edu	37	chr1	152282840	152282840	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagacctatctactgAttgctcgtggtaggatccct	10	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:152282840A>T	uc001ezu.1	-	3	4558	c.4522T>A	c.(4522-4524)TCA>ACA	p.S1508T		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1508	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTATCTACTGATTGCTCGTGG	0.577									Ichthyosis				T	152282840	A	T	152282840	3	4	189	1	0	0	0	0	1	0	0	0	5922	333	12	5	7667	5	FLG	1	152282840	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4012	152282840	96967781	290	98147											
FLG2	388698	broad.mit.edu	37	chr1	152326301	152326301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatggccatgtctagtggTatctcctctctgtccatgag	10	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:152326301T>C	uc001ezw.3	-	3	4034	c.3961A>G	c.(3961-3963)ACC>GCC	p.T1321A	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1321							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTAGTGGTATCTCCTCTC	0.473													C	152326301	T	C	152326301	3	2	189	1	0	0	0	0	1	0	0	0	5923	1638	57	3	3218	3	FLG2	1	152326301	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	43461	152326301	96924320	291	98148											
LCE2C	353140	broad.mit.edu	37	chr1	152648551	152648551	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtgtcctcccaagtgTaccccaaaatgtccacctaa	5	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:152648551T>C	uc001fah.2	+	2	115	c.60T>C	c.(58-60)TGT>TGC	p.C20C		NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	20	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcccaagtgtaccccaaaat	0.383													C	152648551	T	C	152648551	2	2	189	1	0	0	0	0	0	0	0	1	8667	1644	57	3		3	LCE2C	1	152648551	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	322250	152648551	96602070	292	98149											
NPR1	4881	broad.mit.edu	37	chr1	153659753	153659753	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactgcgtggtagatgggcgCtttgtgctcaagatcaccga	13	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:153659753C>A	uc001fcs.3	+	13	2434	c.2013C>A	c.(2011-2013)CGC>CGA	p.R671R	NPR1_uc010pdz.1_Silent_p.R417R|NPR1_uc010pea.1_Silent_p.R149R	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	671	Cytoplasmic (Potential).|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			ovary(3)|lung(2)|stomach(1)|breast(1)	7	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)	TAGATGGGCGCTTTGTGCTCA	0.542													A	153659753	C	A	153659753	2	1	189	1	0	0	0	0	0	0	0	1	10594	784	28	5		5	NPR1	1	153659753	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1011202	153659753	95590868	293	98150											
DENND4B	9909	broad.mit.edu	37	chr1	153908639	153908639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccatagtgtgagcagAgctgcatcagtacccggtaa	12	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:153908639A>G	uc001fdd.1	-	17	2866	c.2465T>C	c.(2464-2466)CTC>CCC	p.L822P		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	822	PPR 2.									ovary(1)	1	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)			GTGTGAGCAGAGCTGCATCAG	0.552													G	153908639	A	G	153908639	3	3	189	1	0	0	0	0	1	0	0	0	4434	304	11	3	2073	3	DENND4B	1	153908639	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	248886	153908639	95341982	294	98151											
RAB13	5872	broad.mit.edu	37	chr1	153955025	153955025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctcatccacattcaTactggatttagcactagttt	4	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:153955025T>C	uc001fdt.1	-	6	560	c.466A>G	c.(466-468)ATG>GTG	p.M156V	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	156					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity				0	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)			TCCACATTCATACTGGATTTA	0.473													C	153955025	T	C	153955025	3	2	189	1	0	0	0	0	1	0	0	0	12899	1406	49	3	157	3	RAB13	1	153955025	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	46386	153955025	95295596	295	98152											
C1orf43	25912	broad.mit.edu	37	chr1	154185068	154185068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttgcccattaaggaacGgggatgccggccttcagaat	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154185068G>A	uc001fei.2	-	5	763	c.373C>T	c.(373-375)CGT>TGT	p.R125C	C1orf43_uc001fef.1_Missense_Mutation_p.R22C|C1orf43_uc001feg.2_Missense_Mutation_p.R91C|C1orf43_uc001feh.2_Missense_Mutation_p.R73C|C1orf43_uc001fej.2_Missense_Mutation_p.R107C|C1orf43_uc009wos.1_Missense_Mutation_p.R107C|C1orf43_uc001fek.2_Missense_Mutation_p.R125C|C1orf43_uc001fel.2_Missense_Mutation_p.R91C	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3	125						integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					ATTAAGGAACGGGGATGCCGG	0.408													A	154185068	G	A	154185068	3	1	189	1	0	0	0	0	1	0	0	0	2040	1116	39	1	400	1	C1orf43	1	154185068	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	230043	154185068	95065553	296	98153											
UBAP2L	9898	broad.mit.edu	37	chr1	154199796	154199796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttgcacagatgatttcGgaccataatgatgctgactt	9	8	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154199796G>A	uc001fep.3	+	3	296	c.129G>A	c.(127-129)TCG>TCA	p.S43S	UBAP2L_uc009wot.2_Silent_p.S43S|UBAP2L_uc010pek.1_Silent_p.S42S|UBAP2L_uc010pel.1_Silent_p.S42S|UBAP2L_uc001fen.1_Silent_p.S42S|UBAP2L_uc010pem.1_Silent_p.S42S|UBAP2L_uc010pen.1_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	43					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGATGATTTCGGACCATAATG	0.383													A	154199796	G	A	154199796	2	1	189	1	0	0	0	0	0	0	0	1	16835	1103	39	1		1	UBAP2L	1	154199796	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	14728	154199796	95050825	297	98154											
HAX1	10456	broad.mit.edu	37	chr1	154246038	154246038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcaatagcatcttcagcGatatgggggcctggaccttg	11	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154246038G>A	uc001fes.2	+	2	441	c.280G>A	c.(280-282)GAT>AAT	p.D94N	HAX1_uc001fet.2_Missense_Mutation_p.D46N|HAX1_uc010peo.1_Missense_Mutation_p.D94N|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_Missense_Mutation_p.D68N	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	94						actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCTTCAGCGATATGGGGGC	0.522									Kostmann_syndrome				A	154246038	G	A	154246038	3	1	189	1	0	0	0	0	1	0	0	0	6975	1058	37	1	286	1	HAX1	1	154246038	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	46242	154246038	95004583	298	98155											
HAX1	10456	broad.mit.edu	37	chr1	154246292	154246292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacctggtgagagactacGggagggacagacacttcggg	16	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154246292G>A	uc001fes.2	+	3	520	c.359G>A	c.(358-360)CGG>CAG	p.R120Q	HAX1_uc001fet.2_Missense_Mutation_p.R72Q|HAX1_uc010peo.1_Missense_Mutation_p.R128Q|HAX1_uc009wou.2_Missense_Mutation_p.R45Q|HAX1_uc009wov.2_Missense_Mutation_p.R94Q	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	120	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGAGACTACGGGAGGGACAG	0.517									Kostmann_syndrome				A	154246292	G	A	154246292	3	1	189	1	0	0	0	0	1	0	0	0	6975	1116	39	1	369	1	HAX1	1	154246292	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	254	154246292	95004329	299	98156											
SHE	126669	broad.mit.edu	37	chr1	154458516	154458516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgactctcagcctcagcacGgctgatggcaccatgatacc	9	15	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154458516G>A	uc001ffb.2	-	5	1291	c.1204C>T	c.(1204-1206)CGT>TGT	p.R402C	SHE_uc001ffc.2_RNA	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	402	SH2.									breast(3)|ovary(2)|central_nervous_system(1)	6	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)			GCCTCAGCACGGCTGATGGCA	0.498													A	154458516	G	A	154458516	3	1	189	1	0	0	0	0	1	0	0	0	14276	1116	39	1	291	1	SHE	1	154458516	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	212224	154458516	94792105	300	98157											
UBE2Q1	55585	broad.mit.edu	37	chr1	154524643	154524643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagatcgttgtgcaaagCgctgtcctggtcaactctaa	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154524643C>T	uc001fff.1	-	8	983	c.892G>A	c.(892-894)GCT>ACT	p.A298T		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q	298							ATP binding|protein binding|ubiquitin-protein ligase activity				0	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)			TTGTGCAAAGCGCTGTCCTGG	0.493													T	154524643	C	T	154524643	3	4	189	1	0	0	0	0	1	0	0	0	16866	768	27	1	400	1	UBE2Q1	1	154524643	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	66127	154524643	94725978	301	98158											
UBE2Q1	55585	broad.mit.edu	37	chr1	154525264	154525264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctccttcatcagccgGtcagtggcctgcaccgagcc	11	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154525264G>A	uc001fff.1	-	6	853	c.762C>T	c.(760-762)GAC>GAT	p.D254D		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q	254							ATP binding|protein binding|ubiquitin-protein ligase activity				0	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)			TCATCAGCCGGTCAGTGGCCT	0.532													A	154525264	G	A	154525264	2	1	189	1	0	0	0	0	0	0	0	1	16866	1252	44	4		4	UBE2Q1	1	154525264	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	621	154525264	94725357	302	98159											
ADAR	103	broad.mit.edu	37	chr1	154569432	154569432	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgttgggcatcatggAttccaagttatcaagtgact	10	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154569432A>T	uc001ffh.2	-	6	2319	c.2119T>A	c.(2119-2121)TCC>ACC	p.S707T	ADAR_uc001ffj.2_Intron|ADAR_uc001ffi.2_Missense_Mutation_p.S707T|ADAR_uc001ffk.2_Missense_Mutation_p.S412T	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	707					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			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)		GGCATCATGGATTCCAAGTTA	0.493													T	154569432	A	T	154569432	3	4	189	1	0	0	0	0	1	0	0	0	281	333	12	5	1601	5	ADAR	1	154569432	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	44168	154569432	94681189	303	98160											
PYGO2	90780	broad.mit.edu	37	chr1	154931981	154931981	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggctggttgaagggTtggctgggaaagttcatgtt	16	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154931981T>C	uc001fft.2	-	3	701	c.495A>G	c.(493-495)CAA>CAG	p.Q165Q		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	165	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			skin(1)	1	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)			GGTTGAAGGGTTGGCTGGGAA	0.607													C	154931981	T	C	154931981	2	2	189	1	0	0	0	0	0	0	0	1	12864	1722	60	3		3	PYGO2	1	154931981	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	362549	154931981	94318640	304	98161											
FLAD1	80308	broad.mit.edu	37	chr1	154960959	154960959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtctccgtccgaaacGtctacctcttcccaggcatt	7	16	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:154960959G>A	uc001fgf.1	+	2	1105	c.751G>A	c.(751-753)GTC>ATC	p.V251I	FLAD1_uc001fgc.2_Missense_Mutation_p.V152I|FLAD1_uc001fgd.1_Missense_Mutation_p.V251I|FLAD1_uc001fge.1_Missense_Mutation_p.V154I|FLAD1_uc001fgg.1_Missense_Mutation_p.V154I|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	251					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	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)			CGTCCGAAACGTCTACCTCTT	0.557													A	154960959	G	A	154960959	3	1	189	1	0	0	0	0	1	0	0	0	5920	1145	40	1	832	1	FLAD1	1	154960959	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	28978	154960959	94289662	305	98162											
THBS3	7059	broad.mit.edu	37	chr1	155170773	155170773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcttcctgcccagagTtgggtgtcaaaaggcagttg	12	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:155170773T>C	uc001fix.2	-	13	1486	c.1463A>G	c.(1462-1464)AAC>AGC	p.N488S	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.N479S|THBS3_uc001fiz.2_Missense_Mutation_p.N451S|THBS3_uc001fiy.2_Missense_Mutation_p.N17S|THBS3_uc010pfu.1_Missense_Mutation_p.N368S|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	488	TSP type-3 1.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	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)			CTGCCCAGAGTTGGGTGTCAA	0.552													C	155170773	T	C	155170773	3	2	189	1	0	0	0	0	1	0	0	0	15852	1725	60	3	1451	3	THBS3	1	155170773	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	209814	155170773	94079848	306	98163											
HCN3	57657	broad.mit.edu	37	chr1	155255658	155255658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtggtgcgtgagggctcCgtggggaggaagatgtactt	18	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:155255658C>T	uc001fjz.1	+	6	1388	c.1380C>T	c.(1378-1380)TCC>TCT	p.S460S	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Silent_p.S155S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	460	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGAGGGCTCCGTGGGGAGGA	0.637													T	155255658	C	T	155255658	2	4	189	1	0	0	0	0	0	0	0	1	6998	639	23	1		1	HCN3	1	155255658	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	84885	155255658	93994963	307	98164											
RUSC1	23623	broad.mit.edu	37	chr1	155292385	155292385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaacctgaaaaattcgActctggttggaaaaccaaca	8	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:155292385A>G	uc001fkj.2	+	2	1050	c.821A>G	c.(820-822)GAC>GGC	p.D274G	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.D274G|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	274						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	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)			GAAAAATTCGACTCTGGTTGG	0.418													G	155292385	A	G	155292385	3	3	189	1	0	0	0	0	1	0	0	0	13750	275	10	3	823	3	RUSC1	1	155292385	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	36727	155292385	93958236	308	98165											
ASH1L	55870	broad.mit.edu	37	chr1	155491319	155491319	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagggtccatcacaagcgTatgttattgccaaggaatct	9	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:155491319T>C	uc009wqq.2	-	2	472	c.-8A>G	c.(-10--6)ATACG>ATGCG		ASH1L_uc001fkt.2_Translation_Start_Site|ASH1L_uc009wqr.1_Translation_Start_Site	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like						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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			ATCACAAGCGTATGTTATTGC	0.393													C	155491319	T	C	155491319	1	2	189	1	0	0	0	0	0	0	0	0	1041	1653	57	3		3	ASH1L	1	155491319	Translation_Start_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	198934	155491319	93759302	309	98166											
LMNA	4000	broad.mit.edu	37	chr1	156108471	156108471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctaccgcagtgtggggGgcagtgggggtggcagcttc	20	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156108471G>A	uc001fni.2	+	11	2140	c.1891G>A	c.(1891-1893)GGC>AGC	p.G631S	LMNA_uc001fnf.1_3'UTR|LMNA_uc001fnh.2_Missense_Mutation_p.G601S|LMNA_uc009wro.1_Intron|LMNA_uc001fnj.2_3'UTR|LMNA_uc001fnk.2_Missense_Mutation_p.G532S|LMNA_uc010pha.1_3'UTR|LMNA_uc010phb.1_RNA	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	631	Tail.				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|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					CAGTGTGGGGGGCAGTGGGGG	0.652									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				A	156108471	G	A	156108471	3	1	189	1	0	0	0	0	1	0	0	0	8848	1232	43	4	1954	4	LMNA	1	156108471	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	617152	156108471	93142150	310	98167											
SLC25A44	9673	broad.mit.edu	37	chr1	156170077	156170077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcaagggtgagaaaatgGgccgctttcaggtgcggggg	18	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156170077G>A	uc001fnp.2	+	2	761	c.439G>A	c.(439-441)GGC>AGC	p.G147S	SLC25A44_uc010phc.1_Intron|SLC25A44_uc009wrr.2_Missense_Mutation_p.G147S|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	147	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)					TGAGAAAATGGGCCGCTTTCA	0.582													A	156170077	G	A	156170077	3	1	189	1	0	0	0	0	1	0	0	0	14509	1232	43	4	441	4	SLC25A44	1	156170077	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	61606	156170077	93080544	311	98168											
PAQR6	79957	broad.mit.edu	37	chr1	156214025	156214025	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagcagcaataatgagTaggttcccagctgcagccaa	11	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156214025T>C	uc001fnu.1	-	8	1000	c.930A>G	c.(928-930)CTA>CTG	p.L310L	PAQR6_uc010phf.1_Missense_Mutation_p.Y160C|PAQR6_uc001fny.1_Missense_Mutation_p.Y88C|PAQR6_uc001fnv.1_Silent_p.L286L|PAQR6_uc010phg.1_Silent_p.L307L|PAQR6_uc001fnx.1_Silent_p.L204L|PAQR6_uc001fnw.1_Missense_Mutation_p.Y228C|PAQR6_uc001fnz.1_Missense_Mutation_p.Y228C|PAQR6_uc010phh.1_Silent_p.L310L|PAQR6_uc001foa.1_Silent_p.L204L|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	310	Helical; (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					CAATAATGAGTAGGTTCCCAG	0.627													C	156214025	T	C	156214025	2	2	189	1	0	0	0	0	0	0	0	1	11439	1638	57	3		3	PAQR6	1	156214025	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	43948	156214025	93036596	312	98169											
RHBG	57127	broad.mit.edu	37	chr1	156351209	156351209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctgggggctgggcagcatCggacggccctcaacacatac	14	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156351209C>T	uc010pho.1	+	5	783	c.745C>T	c.(745-747)CGG>TGG	p.R249W	RHBG_uc010phm.1_Missense_Mutation_p.R87W|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.R180W|RHBG_uc009wrz.2_Missense_Mutation_p.R217W|RHBG_uc001for.2_Missense_Mutation_p.R219W	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	249	Extracellular (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					TGGGCAGCATCGGACGGCCCT	0.582													T	156351209	C	T	156351209	3	4	189	1	0	0	0	0	1	0	0	0	13324	875	31	1	763	1	RHBG	1	156351209	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	137184	156351209	92899412	313	98170											
MEF2D	4209	broad.mit.edu	37	chr1	156452281	156452281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcattgtactccgtgTacttgagcagcaccttgtcc	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156452281T>C	uc001fpc.2	-	3	596	c.206A>G	c.(205-207)TAC>TGC	p.Y69C	MEF2D_uc001fpb.2_Missense_Mutation_p.Y69C|MEF2D_uc001fpd.2_Missense_Mutation_p.Y69C|MEF2D_uc001fpe.1_Missense_Mutation_p.Y69C|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	69	Mef2-type (Potential).				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACTCCGTGTACTTGAGCAG	0.567													C	156452281	T	C	156452281	3	2	189	1	0	0	0	0	1	0	0	0	9458	1638	57	3	1399	3	MEF2D	1	156452281	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	101072	156452281	92798340	314	98171											
IQGAP3	128239	broad.mit.edu	37	chr1	156499976	156499976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagtcggcgtaggttcCgcaggacgcgccgctgcttc	13	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156499976C>T	uc001fpf.2	-	34	4400	c.4325G>A	c.(4324-4326)CGG>CAG	p.R1442Q		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1442					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCGTAGGTTCCGCAGGACGCG	0.647													T	156499976	C	T	156499976	3	4	189	1	0	0	0	0	1	0	0	0	7816	652	23	1	590	1	IQGAP3	1	156499976	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	47695	156499976	92750645	315	98172											
IQGAP3	128239	broad.mit.edu	37	chr1	156517928	156517928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgctcagcaaacttctgCcgaactaggaagccacggag	11	11	2	0	rs151288646		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156517928C>T	uc001fpf.2	-	19	2316	c.2241G>A	c.(2239-2241)CGG>CGA	p.R747R		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	747	IQ 1.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAACTTCTGCCGAACTAGGA	0.577													T	156517928	C	T	156517928	2	4	189	1	0	0	0	0	0	0	0	1	7816	726	26	2		2	IQGAP3	1	156517928	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	17952	156517928	92732693	316	98173											
IQGAP3	128239	broad.mit.edu	37	chr1	156532379	156532379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctcgaggtctcttacCgttgacatggttgatattgc	10	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156532379C>T	uc001fpf.2	-	9	952	c.877G>A	c.(877-879)GTC>ATC	p.V293I	IQGAP3_uc009wsb.1_Missense_Mutation_p.V250I	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	293					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCTCTTACCGTTGACATGG	0.507													T	156532379	C	T	156532379	3	4	189	1	0	0	0	0	1	0	0	0	7816	666	23	1	4138	1	IQGAP3	1	156532379	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	14451	156532379	92718242	317	98174											
ISG20L2	81875	broad.mit.edu	37	chr1	156694105	156694105	+	Frame_Shift_Del	DEL	C	C	-													aagtcgttgtggatggcatgCcccaccactatcttccctgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156694104_156694104GC>G	uc001fps.1	-	1	1045	c.784_784GC>C	c.(784-786)catfs	p.H262fs	ISG20L2_uc001fpt.1_Frame_Shift_Del_p.H262fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	262	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGATGGCATGCCCCACCACT	0.532													-	156694105	C	-	156694105	7	5	189	1	0	1	0	1	0	0	0	0	7855	726	26	0	286	0	ISG20L2	1	156694105	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	161726	156694105	92556516	318	98175											
INSRR	3645	broad.mit.edu	37	chr1	156814367	156814367	+	Frame_Shift_Del	DEL	C	C	-													gcagcagggccaggtggactCccccaaacttcgcatatcga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156814366_156814366TC>T	uc010pht.2	-	13	2924	c.2625_2625GA>A	c.(2623-2625)ggafs	p.G875fs	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	875	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)					CCAGGTGGACTCCCCCAAACT	0.572													-	156814367	C	-	156814367	7	5	189	1	0	1	0	1	0	0	0	0	7774	855	30	0	1304	0	INSRR	1	156814367	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	120262	156814367	92436254	319	98176											
ARHGEF11	9826	broad.mit.edu	37	chr1	156914828	156914828	+	Frame_Shift_Del	DEL	G	G	-													taccttgaactctgctgccaGggggttgctggccctctcca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156914827_156914827AG>A	uc001fqo.3	-	28	3895	c.2855_2855CT>T	c.(2854-2856)ctgfs	p.L952fs	ARHGEF11_uc010phu.2_Frame_Shift_Del_p.L368fs|ARHGEF11_uc001fqn.3_Frame_Shift_Del_p.L992fs	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	952					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTGCTGCCAGGGGGTTGCT	0.567													-	156914828	G	-	156914828	7	5	189	1	0	1	0	1	0	0	0	0	896	991	35	0	1762	0	ARHGEF11	1	156914828	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	100461	156914828	92335793	320	98177											
ARHGEF11	9826	broad.mit.edu	37	chr1	156955924	156955924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgggaaggggacttgCgctctggtgcagaatctccc	16	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:156955924C>T	uc001fqo.2	-	2	1114	c.74G>A	c.(73-75)CGC>CAC	p.R25H	ARHGEF11_uc001fqn.2_Missense_Mutation_p.R25H	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	25					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGGGACTTGCGCTCTGGTGC	0.473													T	156955924	C	T	156955924	3	4	189	1	0	0	0	0	1	0	0	0	896	768	27	1	4774	1	ARHGEF11	1	156955924	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	41096	156955924	92294697	321	98178											
CD5L	922	broad.mit.edu	37	chr1	157805670	157805672	+	In_Frame_Del	DEL	CTT	CTT	-													atcatgtgaacaatcataaaCttcttcttgctcacactgag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:157805669_157805671ACTT>A	uc001frk.4	-	2	473_475	c.330_332AAGT>T	c.(328-333)gaagtt>gaTt	p.110_111EV>D		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	110	SRCR 1.				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)			ACAATCATAAACTTCTTCTTGCT	0.498													-	157805672	CTT	-	157805670	7	5	189	1	0	1	0	1	0	0	0	0	3027	565	20	0	728	0	CD5L	1	157805670	In_Frame_Del	DEL	CTT	TCGA-CG-5721-01A-11D-1600-08	849746	157805670	91444951	322	98179											
CD1C	911	broad.mit.edu	37	chr1	158263003	158263003	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttccaatatgtgcaggAcaccacttttccatgaattg	6	10	1	1	rs114722992	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:158263003A>G	uc001fru.2	+	5	1183	c.891A>G	c.(889-891)GGA>GGG	p.G297G	CD1C_uc001frv.2_Intron	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	297	Extracellular (Potential).				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			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					TATGTGCAGGACACCACTTTT	0.373													G	158263003	A	G	158263003	2	3	189	1	0	0	0	0	0	0	0	1	2976	289	10	3		3	CD1C	1	158263003	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	457333	158263003	90987618	323	98180											
OR6K2	81448	broad.mit.edu	37	chr1	158670434	158670434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatggtggttcgattgggGctctccatctccaagttgaa	12	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:158670434G>T	uc001fsu.1	-	1	9	c.9C>A	c.(7-9)AGC>AGA	p.S3R		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TTCGATTGGGGCTCTCCATCT	0.433													T	158670434	G	T	158670434	3	4	189	1	0	0	0	0	1	0	0	0	11202	1194	42	5	969	5	OR6K2	1	158670434	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	407431	158670434	90580187	324	98181											
OR6K3	391114	broad.mit.edu	37	chr1	158687161	158687161	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatacactgccaaagaataTcgggaagaccatgaggtggc	12	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:158687161T>A	uc010pip.1	-	1	793	c.793A>T	c.(793-795)ATA>TTA	p.I265L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	265	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CCAAAGAATATCGGGAAGACC	0.458													A	158687161	T	A	158687161	3	1	189	1	0	0	0	0	1	0	0	0	11203	1435	50	5	204	5	OR6K3	1	158687161	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	16727	158687161	90563460	325	98182											
OR6K3	391114	broad.mit.edu	37	chr1	158687464	158687464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaaccgaagaggcaggAacctgcagagagttgagcac	14	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:158687464A>G	uc010pip.1	-	1	490	c.490T>C	c.(490-492)TCC>CCC	p.S164P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	164	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AAGAGGCAGGAACCTGCAGAG	0.512													G	158687464	A	G	158687464	3	3	189	1	0	0	0	0	1	0	0	0	11203	246	9	3	507	3	OR6K3	1	158687464	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	303	158687464	90563157	326	98183											
OR6K6	128371	broad.mit.edu	37	chr1	158725437	158725437	+	Frame_Shift_Del	DEL	T	T	-													accttgctgtgttcttgctaTtttttggcagtgtggctgtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:158725436_158725436AT>A	uc001fsw.1	+	0	831	c.831_831AT>A	c.(829-831)ctafs	p.L277fs		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	277					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)					TGTTCTTGCTATTTTTTGGCA	0.458													-	158725437	T	-	158725437	7	5	189	1	0	1	0	1	0	0	0	0	11204	1493	52	0	834	0	OR6K6	1	158725437	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	37973	158725437	90525184	327	98184											
CADM3	57863	broad.mit.edu	37	chr1	159163707	159163707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatggtaaaaccttcactGtcagcagctcggtgacattc	8	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:159163707G>A	uc001ftl.2	+	5	710	c.568G>A	c.(568-570)GTC>ATC	p.V190I	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.V224I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	190	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					AACCTTCACTGTCAGCAGCTC	0.517													A	159163707	G	A	159163707	3	1	189	1	0	0	0	0	1	0	0	0	2568	1377	48	4	692	4	CADM3	1	159163707	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	438270	159163707	90086914	328	98185											
OR10J3	441911	broad.mit.edu	37	chr1	159284344	159284344	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagagagagtcagcaggtAcaaagttaggaagacaacaa	12	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:159284344A>G	uc010piu.1	-	1	106	c.106T>C	c.(106-108)TAC>CAC	p.Y36H		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					GTCAGCAGGTACAAAGTTAGG	0.443													G	159284344	A	G	159284344	3	3	189	1	0	0	0	0	1	0	0	0	10911	391	14	3	885	3	OR10J3	1	159284344	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	120637	159284344	89966277	329	98186											
FCRL6	343413	broad.mit.edu	37	chr1	159780002	159780002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgagatcctggagaaaAgctggtcagtaactcctctt	10	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:159780002A>C	uc001fud.3	+	6	1047	c.1005A>C	c.(1003-1005)AAA>AAC	p.K335N	FCRL6_uc001fuc.2_Missense_Mutation_p.K342N|FCRL6_uc009wsz.1_Missense_Mutation_p.K240N|FCRL6_uc009wta.2_Missense_Mutation_p.K335N	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	335	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					CCTGGAGAAAAGCTGGTCAGT	0.552													C	159780002	A	C	159780002	3	2	189	1	0	0	0	0	1	0	0	0	5799	69	3	5	1027	5	FCRL6	1	159780002	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	495658	159780002	89470619	330	98187											
SLAMF8	56833	broad.mit.edu	37	chr1	159799703	159799703	+	Frame_Shift_Del	DEL	G	G	-													cccaagtgctgagcaaagtcGggggctcggtgctgctggtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:159799702_159799702CG>C	uc001fue.4	+	1	297	c.87_87CG>C	c.(85-87)gtcfs	p.V29fs		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	29						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TGAGCAAAGTCGGGGGCTCGG	0.602													-	159799703	G	-	159799703	7	5	189	1	0	1	0	1	0	0	0	0	14370	1116	39	0	94	0	SLAMF8	1	159799703	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	19701	159799703	89450918	331	98188											
VSIG8	391123	broad.mit.edu	37	chr1	159827580	159827580	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggtaggacagctctgAgtggtagctgtgctgggagg	17	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:159827580A>T	uc001fuh.2	-	4	743	c.607T>A	c.(607-609)TCA>ACA	p.S203T	C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	203	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane				central_nervous_system(1)	1	all_hematologic(112;0.0597)					GACAGCTCTGAGTGGTAGCTG	0.597													T	159827580	A	T	159827580	3	4	189	1	0	0	0	0	1	0	0	0	17223	304	11	5	653	5	VSIG8	1	159827580	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	27877	159827580	89423041	332	98189											
IGSF8	93185	broad.mit.edu	37	chr1	160063696	160063696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcccctgcagccaatcgCtcagcatagggagctccagc	10	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:160063696C>A	uc001fva.2	-	3	753	c.708G>T	c.(706-708)GAG>GAT	p.E236D	IGSF8_uc001fuz.2_Missense_Mutation_p.E236D|IGSF8_uc009wtf.2_Missense_Mutation_p.E236D	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	236	Extracellular (Potential).|Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	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)			CAGCCAATCGCTCAGCATAGG	0.642													A	160063696	C	A	160063696	3	1	189	1	0	0	0	0	1	0	0	0	7604	796	28	5	1149	5	IGSF8	1	160063696	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	236116	160063696	89186925	333	98190											
ATP1A4	480	broad.mit.edu	37	chr1	160134082	160134082	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatccatctgatcactgtGgtggccgtcttccttggtgt	10	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:160134082G>T	uc001fve.3	+	7	1394	c.915G>T	c.(913-915)GTG>GTT	p.V305V	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	305	Helical; (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGATCACTGTGGTGGCCGTCT	0.527													T	160134082	G	T	160134082	2	4	189	1	0	0	0	0	0	0	0	1	1131	1335	47	5		5	ATP1A4	1	160134082	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	70386	160134082	89116539	334	98191											
COPA	1314	broad.mit.edu	37	chr1	160267456	160267456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatttccacaatctggtggTtcccctgcagcagggccact	9	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:160267456T>C	uc009wti.2	-	20	2451	c.2057A>G	c.(2056-2058)AAC>AGC	p.N686S	COPA_uc001fvv.3_Missense_Mutation_p.N695S	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	686					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			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATCTGGTGGTTCCCCTGCAG	0.473													C	160267456	T	C	160267456	3	2	189	1	0	0	0	0	1	0	0	0	3727	1725	60	3	1673	3	COPA	1	160267456	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	133374	160267456	88983165	335	98192											
COPA	1314	broad.mit.edu	37	chr1	160268702	160268702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacaaaatgcagtgccActtcaggatagcccttcttc	7	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:160268702A>G	uc009wti.2	-	19	2304	c.1910T>C	c.(1909-1911)GTG>GCG	p.V637A	COPA_uc001fvv.3_Missense_Mutation_p.V646A	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	637					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			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGTGCCACTTCAGGATA	0.463													G	160268702	A	G	160268702	3	3	189	1	0	0	0	0	1	0	0	0	3727	159	6	3	1824	3	COPA	1	160268702	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1246	160268702	88981919	336	98193											
COPA	1314	broad.mit.edu	37	chr1	160276963	160276963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaactcaccgaatgcatcCgatctaggacagcaaaccga	7	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:160276963C>T	uc009wti.2	-	14	1686	c.1292G>A	c.(1291-1293)CGG>CAG	p.R431Q	COPA_uc001fvv.3_Missense_Mutation_p.R431Q|COPA_uc009wtj.1_Missense_Mutation_p.R377Q	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	431					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			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGAATGCATCCGATCTAGGAC	0.473													T	160276963	C	T	160276963	3	4	189	1	0	0	0	0	1	0	0	0	3727	652	23	1	2489	1	COPA	1	160276963	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8261	160276963	88973658	337	98194											
NCSTN	23385	broad.mit.edu	37	chr1	160320035	160320035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaaaccaaagtcatcAagcaggtaatgacactgcca	7	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:160320035A>G	uc001fvx.2	+	5	701	c.577A>G	c.(577-579)AAG>GAG	p.K193E	NCSTN_uc001fvy.2_Missense_Mutation_p.K173E|NCSTN_uc010pjf.1_Missense_Mutation_p.K193E|NCSTN_uc001fvz.2_5'UTR|NCSTN_uc010pjg.1_5'UTR	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	193	Extracellular (Potential).				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			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGTCATCAAGCAGGTAAT	0.308													G	160320035	A	G	160320035	3	3	189	1	0	0	0	0	1	0	0	0	10241	131	5	3	595	3	NCSTN	1	160320035	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	43072	160320035	88930586	338	98195											
ITLN2	142683	broad.mit.edu	37	chr1	160917764	160917764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcccagcacaaagggcGttggctgctctctcgttatt	9	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:160917764G>A	uc001fxd.2	-	7	838	c.780C>T	c.(778-780)AAC>AAT	p.N260N	ITLN2_uc009wts.2_Silent_p.N259N|ITLN2_uc010pju.1_Silent_p.N177N	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	260	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACAAAGGGCGTTGGCTGCTC	0.408													A	160917764	G	A	160917764	2	1	189	1	0	0	0	0	0	0	0	1	7911	1136	40	1		1	ITLN2	1	160917764	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	597729	160917764	88332857	339	98196											
KLHDC9	126823	broad.mit.edu	37	chr1	161070003	161070003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccacaggtttgcatcctgGactttatctaaatagtgcca	8	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:161070003G>A	uc001fxr.2	+	4	1211	c.1039G>A	c.(1039-1041)GAC>AAC	p.D347N	KLHDC9_uc001fxq.2_Missense_Mutation_p.D109N|KLHDC9_uc001fxs.2_3'UTR	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	kelch/ankyrin repeat containing cyclin A1	347	Kelch 3.										0	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTGCATCCTGGACTTTATCTA	0.473													A	161070003	G	A	161070003	3	1	189	1	0	0	0	0	1	0	0	0	8364	1174	41	4	1072	4	KLHDC9	1	161070003	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	152239	161070003	88180618	340	98197											
FCGR2C	9103	broad.mit.edu	37	chr1	161559418	161559418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctccaagaggactctgTgactctgacatgccggggga	14	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:161559418T>C	uc001gav.2	+	4	299	c.200T>C	c.(199-201)GTG>GCG	p.V67A	FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA	NM_201563	NP_963857			Fc fragment of IgG, low affinity IIc, receptor												0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGGACTCTGTGACTCTGACA	0.587													C	161559418	T	C	161559418	3	2	189	1	0	0	0	0	1	0	0	0	5783	1696	59	3	210	3	FCGR2C	1	161559418	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	489415	161559418	87691203	341	98198											
RGS5	8490	broad.mit.edu	37	chr1	163122374	163122374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttgaatgaattcttcaTaaatttgctttgccttctca	5	9	3	2	rs144088608		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:163122374T>C	uc001gcn.2	-	4	597	c.350A>G	c.(349-351)TAT>TGT	p.Y117C	RGS5_uc009wvb.2_RNA	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	117	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			GAATTCTTCATAAATTTGCTT	0.453													C	163122374	T	C	163122374	3	2	189	1	0	0	0	0	1	0	0	0	13308	1406	49	3	203	3	RGS5	1	163122374	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1562956	163122374	86128247	342	98199											
NUF2	83540	broad.mit.edu	37	chr1	163315530	163315530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgcctgccttcatgtcaGttggaagtgcagttatatca	10	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:163315530G>T	uc001gcq.1	+	11	1170	c.870G>T	c.(868-870)CAG>CAT	p.Q290H	NUF2_uc001gcp.2_Missense_Mutation_p.Q290H|NUF2_uc001gcr.1_Missense_Mutation_p.Q290H|NUF2_uc009wvc.1_Intron	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	290	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)					CTTCATGTCAGTTGGAAGTGC	0.358													T	163315530	G	T	163315530	3	4	189	1	0	0	0	0	1	0	0	0	10747	1020	36	5	908	5	NUF2	1	163315530	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	193156	163315530	85935091	343	98200											
RXRG	6258	broad.mit.edu	37	chr1	165386317	165386317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaaggcacttctgatagcGacagtactggcagcggttgc	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:165386317G>A	uc001gda.2	-	4	883	c.583C>T	c.(583-585)CGC>TGC	p.R195C		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	195	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TTCTGATAGCGACAGTACTGG	0.512													A	165386317	G	A	165386317	3	1	189	1	0	0	0	0	1	0	0	0	13765	1058	37	1	836	1	RXRG	1	165386317	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2070787	165386317	83864304	344	98201											
ALDH9A1	223	broad.mit.edu	37	chr1	165632366	165632366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgattgtcacacggccgTtctctctgccaaatcctgaa	7	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:165632366T>C	uc001gdh.1	-	11	1583	c.1478A>G	c.(1477-1479)AAC>AGC	p.N493S	ALDH9A1_uc010pky.1_Missense_Mutation_p.N399S|ALDH9A1_uc010pkz.1_Missense_Mutation_p.N483S	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	469					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CACACGGCCGTTCTCTCTGCC	0.438													C	165632366	T	C	165632366	3	2	189	1	0	0	0	0	1	0	0	0	506	1725	60	3	82	3	ALDH9A1	1	165632366	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	246049	165632366	83618255	345	98202											
TADA1	117143	broad.mit.edu	37	chr1	166838708	166838708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaaccaaaatctgacaaCgcgtgagaatggccaggagg	12	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:166838708C>T	uc001gdw.2	-	3	390	c.206G>A	c.(205-207)CGT>CAT	p.R69H	TADA1_uc009wve.2_Missense_Mutation_p.R69H	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	69					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						AATCTGACAACGCGTGAGAAT	0.388													T	166838708	C	T	166838708	3	4	189	1	0	0	0	0	1	0	0	0	15506	536	19	1	825	1	TADA1	1	166838708	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1206342	166838708	82411913	346	98203											
ILDR2	387597	broad.mit.edu	37	chr1	166925999	166925999	+	Frame_Shift_Del	DEL	T	T	-													gcagttccactgagtcctcaTttttcccctccaggtcatct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:166925998_166925998AT>A	uc001gdx.2	-	2	527	c.471_471AT>T	c.(469-471)aatfs	p.N157fs		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	157	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTGAGTCCTCATTTTTCCCCT	0.448													-	166925999	T	-	166925999	7	5	189	1	0	1	0	1	0	0	0	0	7710	1493	52	0	1481	0	ILDR2	1	166925999	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	87291	166925999	82324622	347	98204											
ILDR2	387597	broad.mit.edu	37	chr1	166927241	166927241	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacaactgcaggctgatgGgaggatgttgagaagtggca	16	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:166927241G>T	uc001gdx.1	-	2	200	c.144C>A	c.(142-144)TCC>TCA	p.S48S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	48	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						CAGGCTGATGGGAGGATGTTG	0.572													T	166927241	G	T	166927241	2	4	189	1	0	0	0	0	0	0	0	1	7710	1219	43	5		5	ILDR2	1	166927241	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1242	166927241	82323380	348	98205											
DUSP27	92235	broad.mit.edu	37	chr1	167095407	167095407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcatagacgaggaggagGaggagaaactgtacgagcag	15	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:167095407G>A	uc001geb.1	+	5	1039	c.1039G>A	c.(1039-1041)GAG>AAG	p.E347K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	347					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CGAGGAGGAGGAGGAGAAACT	0.657													A	167095407	G	A	167095407	3	1	189	1	0	0	0	0	1	0	0	0	4824	1175	41	4	1057	4	DUSP27	1	167095407	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	168166	167095407	82155214	349	98206											
SELL	6402	broad.mit.edu	37	chr1	169677585	169677585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagggctgcctttagttTgtggcaggcgtcatcgttcc	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:169677585T>C	uc001ggk.2	-	3	643	c.445A>G	c.(445-447)AAA>GAA	p.K149E	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.K102E|SELL_uc001ggl.1_Missense_Mutation_p.K162E	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	149	C-type lectin.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					GCCTTTAGTTTGTGGCAGGCG	0.488													C	169677585	T	C	169677585	3	2	189	1	0	0	0	0	1	0	0	0	14016	1821	63	3	701	3	SELL	1	169677585	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2582178	169677585	79573036	350	98207											
SELE	6401	broad.mit.edu	37	chr1	169701051	169701051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtctctacacattcacCgtggccactgcaggatgtat	10	11	2	0	rs143566739		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:169701051C>T	uc001ggm.3	-	4	611	c.454G>A	c.(454-456)GGT>AGT	p.G152S	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	152	EGF-like.|Extracellular (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					ACACATTCACCGTGGCCACTG	0.443													T	169701051	C	T	169701051	3	4	189	1	0	0	0	0	1	0	0	0	14013	652	23	1	1418	1	SELE	1	169701051	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23466	169701051	79549570	351	98208											
C1orf112	55732	broad.mit.edu	37	chr1	169772333	169772333	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcagctcttaggagcTctcacaggatgtgttcagca	12	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:169772333T>G	uc001ggp.2	+	6	505	c.195T>G	c.(193-195)GCT>GCG	p.A65A	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggo.2_Silent_p.A65A|C1orf112_uc001ggq.2_Silent_p.A65A|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_Silent_p.A36A|C1orf112_uc009wvu.1_Silent_p.A36A|C1orf112_uc001ggr.2_5'UTR|C1orf112_uc010plv.1_Silent_p.A7A	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	65											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTTAGGAGCTCTCACAGGAT	0.299													G	169772333	T	G	169772333	2	3	189	1	0	0	0	0	0	0	0	1	1985	1538	54	5		5	C1orf112	1	169772333	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	71282	169772333	79478288	352	98209											
PRRX1	5396	broad.mit.edu	37	chr1	170695482	170695482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtggagcagcccatcgTacctcgtcctgctccgagac	11	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:170695482T>C	uc001ghf.2	+	3	586	c.539T>C	c.(538-540)GTA>GCA	p.V180A	PRRX1_uc001ghe.2_Missense_Mutation_p.V180A	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V180I(1)		ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGCCCATCGTACCTCGTCCT	0.562													C	170695482	T	C	170695482	3	2	189	1	0	0	0	0	1	0	0	0	12612	1638	57	3	549	3	PRRX1	1	170695482	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	923149	170695482	78555139	353	98210											
PRRX1	5396	broad.mit.edu	37	chr1	170695497	170695497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtacctcgtcctgctcCgagacccaccgattatctct	6	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:170695497C>T	uc001ghf.2	+	3	601	c.554C>T	c.(553-555)CCG>CTG	p.P185L	PRRX1_uc001ghe.2_Missense_Mutation_p.P185L	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CGTCCTGCTCCGAGACCCACC	0.557													T	170695497	C	T	170695497	3	4	189	1	0	0	0	0	1	0	0	0	12612	652	23	1	564	1	PRRX1	1	170695497	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	15	170695497	78555124	354	98211											
FMO3	2328	broad.mit.edu	37	chr1	171080111	171080111	+	Frame_Shift_Del	DEL	A	A	-													gaatgcaagattcaagcatgAaaactatggcttgatgcctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:171080110_171080110GA>G	uc001ghi.3	+	5	910	c.799_799GA>G	c.(799-801)gaafs	p.E267fs	FMO3_uc001ghh.3_Frame_Shift_Del_p.E267fs|FMO3_uc010pmb.2_Frame_Shift_Del_p.E247fs|FMO3_uc010pmc.2_Frame_Shift_Del_p.E204fs	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	267					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)					ATTCAAGCATGAAAACTATGG	0.438													-	171080111	A	-	171080111	7	5	189	1	0	1	0	1	0	0	0	0	5956	246	9	0	818	0	FMO3	1	171080111	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	384614	171080111	78170510	355	98212											
PIGC	5279	broad.mit.edu	37	chr1	172411559	172411559	+	Frame_Shift_Del	DEL	A	A	-													atataccaccagataaccacAaaaacacaaacactgcacag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:172411558_172411558CA>C	uc021pey.1	-	0	205	c.205_205TG>G	c.(205-207)gtgfs	p.V69fs	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Frame_Shift_Del_p.V69fs|PIGC_uc001gio.3_Frame_Shift_Del_p.V69fs	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	69					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CAGATAACCACAAAAACACAA	0.468													-	172411559	A	-	172411559	7	5	189	1	0	1	0	1	0	0	0	0	11886	127	5	0	693	0	PIGC	1	172411559	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1331448	172411559	76839062	356	98213											
C1orf9	51430	broad.mit.edu	37	chr1	172558159	172558159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatataaatggtgttcagttAgagttgctctttatcggcag	10	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:172558159A>G	uc001giq.3	+	18	2234	c.1918A>G	c.(1918-1920)AGA>GGA	p.R640G	C1orf9_uc010pmm.1_Missense_Mutation_p.R640G|C1orf9_uc009wwd.2_Missense_Mutation_p.R596G|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	640					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GTGTTCAGTTAGAGTTGCTCT	0.393													G	172558159	A	G	172558159	3	3	189	1	0	0	0	0	1	0	0	0	2067	412	15	3	1988	3	C1orf9	1	172558159	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	146600	172558159	76692462	357	98214											
SLC9A11	284525	broad.mit.edu	37	chr1	173499145	173499145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatacatcaagctgaggcGctttttgatctgcacatctg	8	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:173499145G>A	uc001giz.2	-	18	2635	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	SLC9A11_uc009wwe.2_Missense_Mutation_p.R296C|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	738					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AAGCTGAGGCGCTTTTTGATC	0.323													A	173499145	G	A	173499145	3	1	189	1	0	0	0	0	1	0	0	0	14711	1087	38	1	1206	1	SLC9A11	1	173499145	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	940986	173499145	75751476	358	98215											
KLHL20	27252	broad.mit.edu	37	chr1	173726131	173726131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggtggttggtgcagTggagatgccatttccagtgt	15	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:173726131T>C	uc001gjc.2	+	7	1163	c.984T>C	c.(982-984)AGT>AGC	p.S328S	KLHL20_uc010pmr.1_Silent_p.S139S|KLHL20_uc009wwf.2_Silent_p.S310S	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	328	Kelch 1.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GTTGGTGCAGTGGAGATGCCA	0.448													C	173726131	T	C	173726131	2	2	189	1	0	0	0	0	0	0	0	1	8375	1693	59	3		3	KLHL20	1	173726131	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	226986	173726131	75524490	359	98216											
CACYBP	27101	broad.mit.edu	37	chr1	174975919	174975919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtgaaaatctacattAccttaactggagttcatcaa	6	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:174975919A>G	uc001gkj.1	+	3	699	c.274A>G	c.(274-276)ACC>GCC	p.T92A	CACYBP_uc001gki.1_Missense_Mutation_p.T49A	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN	calcyclin binding protein isoform 1	92	Interaction with SKP1.|CS.					beta-catenin destruction complex	protein homodimerization activity				0						AATCTACATTACCTTAACTGG	0.403													G	174975919	A	G	174975919	3	3	189	1	0	0	0	0	1	0	0	0	2564	391	14	3	284	3	CACYBP	1	174975919	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1249788	174975919	74274702	360	98217											
MRPS14	63931	broad.mit.edu	37	chr1	174987603	174987603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagtgaattaatacgtAgcctctcatctgcgtattca	7	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:174987603A>G	uc001gkk.2	-	2	172	c.155T>C	c.(154-156)CTA>CCA	p.L52P	MRPS14_uc009wwr.2_Missense_Mutation_p.L37P	NM_022100	NP_071383	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	52					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						ATTAATACGTAGCCTCTCATC	0.408													G	174987603	A	G	174987603	3	3	189	1	0	0	0	0	1	0	0	0	9824	420	15	3	239	3	MRPS14	1	174987603	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11684	174987603	74263018	361	98218											
TNN	63923	broad.mit.edu	37	chr1	175087805	175087805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtatgtggtgcactacaCgtctgccaacggagagacca	12	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:175087805C>T	uc001gkl.1	+	11	2608	c.2495C>T	c.(2494-2496)ACG>ATG	p.T832M		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	832	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGCACTACACGTCTGCCAAC	0.612													T	175087805	C	T	175087805	3	4	189	1	0	0	0	0	1	0	0	0	16320	536	19	1	2533	1	TNN	1	175087805	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	100202	175087805	74162816	362	98219											
TNN	63923	broad.mit.edu	37	chr1	175113675	175113675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcagatatggggagaccAagcacagtgaggtaggtgac	16	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:175113675A>G	uc001gkl.1	+	18	3861	c.3748A>G	c.(3748-3750)AAG>GAG	p.K1250E		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1250	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGGGAGACCAAGCACAGTGA	0.527													G	175113675	A	G	175113675	3	3	189	1	0	0	0	0	1	0	0	0	16320	131	5	3	3814	3	TNN	1	175113675	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	25870	175113675	74136946	363	98220											
TNR	7143	broad.mit.edu	37	chr1	175299227	175299227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccgcagtgccgttgtagCttcctatgcggagtttgtac	11	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:175299227C>T	uc001gkp.1	-	19	3857	c.3776G>A	c.(3775-3777)AGC>AAC	p.S1259N	TNR_uc009wwu.1_Missense_Mutation_p.S1259N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1259	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GCCGTTGTAGCTTCCTATGCG	0.597													T	175299227	C	T	175299227	3	4	189	1	0	0	0	0	1	0	0	0	16335	797	28	2	312	2	TNR	1	175299227	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	185552	175299227	73951394	364	98221											
TNR	7143	broad.mit.edu	37	chr1	175299353	175299353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggccctgggatgtgatcCtgtgtatattgtccagccct	12	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:175299353C>A	uc001gkp.1	-	19	3731	c.3650G>T	c.(3649-3651)AGG>ATG	p.R1217M	TNR_uc009wwu.1_Missense_Mutation_p.R1217M	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1217	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GGATGTGATCCTGTGTATATT	0.572													A	175299353	C	A	175299353	3	1	189	1	0	0	0	0	1	0	0	0	16335	681	24	5	438	5	TNR	1	175299353	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	126	175299353	73951268	365	98222											
RFWD2	64326	broad.mit.edu	37	chr1	176085813	176085813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattctgtggaatcaataaTactactgcaaaatgaagaga	8	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:176085813T>C	uc001gku.1	-	9	1229	c.973A>G	c.(973-975)ATT>GTT	p.I325V	RFWD2_uc001gkv.1_Missense_Mutation_p.I301V|RFWD2_uc001gkw.1_Missense_Mutation_p.I85V|RFWD2_uc009wwv.2_Missense_Mutation_p.I85V|RFWD2_uc001gkt.1_Missense_Mutation_p.I164V	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	325					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				0						GAATCAATAATACTACTGCAA	0.299													C	176085813	T	C	176085813	3	2	189	1	0	0	0	0	1	0	0	0	13260	1406	49	3	1270	3	RFWD2	1	176085813	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	786460	176085813	73164808	366	98223											
RFWD2	64326	broad.mit.edu	37	chr1	176145092	176145092	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattgtccacaacatagttAcacttgggacatctattatt	5	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:176145092A>G	uc001gku.1	-	3	775	c.519T>C	c.(517-519)TGT>TGC	p.C173C	RFWD2_uc001gkv.1_Silent_p.C173C|RFWD2_uc001gkw.1_5'UTR|RFWD2_uc001gkt.1_Silent_p.C32C	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	173	RING-type.				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				0						CAACATAGTTACACTTGGGAC	0.323													G	176145092	A	G	176145092	2	3	189	1	0	0	0	0	0	0	0	1	13260	389	14	3		3	RFWD2	1	176145092	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	59279	176145092	73105529	367	98224											
PAPPA2	60676	broad.mit.edu	37	chr1	176563808	176563808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccatcttgattagccaCagtcgctaccaaccaggcac	7	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:176563808C>T	uc001gkz.2	+	3	2232	c.1068C>T	c.(1066-1068)CAC>CAT	p.H356H	PAPPA2_uc001gky.1_Silent_p.H356H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	356					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TGATTAGCCACAGTCGCTACC	0.577													T	176563808	C	T	176563808	2	4	189	1	0	0	0	0	0	0	0	1	11433	477	17	4		4	PAPPA2	1	176563808	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	418716	176563808	72686813	368	98225											
FAM5B	57795	broad.mit.edu	37	chr1	177245384	177245384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcgctttgtagctgcaGcactcagctacatcacatgc	10	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:177245384G>A	uc001glf.2	+	6	1138	c.826G>A	c.(826-828)GCA>ACA	p.A276T	FAM5B_uc010pna.1_Missense_Mutation_p.A26T|FAM5B_uc001glg.2_Missense_Mutation_p.A171T	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	276						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGTAGCTGCAGCACTCAGCTA	0.562													A	177245384	G	A	177245384	3	1	189	1	0	0	0	0	1	0	0	0	5593	971	34	2	844	2	FAM5B	1	177245384	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	681576	177245384	72005237	369	98226											
FAM5B	57795	broad.mit.edu	37	chr1	177249772	177249772	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacccgggctatgtgctggCccaggggctgtgccggccag	16	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:177249772C>G	uc001glf.2	+	8	1772	c.1460C>G	c.(1459-1461)GCC>GGC	p.A487G	FAM5B_uc001glg.2_Missense_Mutation_p.A382G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	487						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TATGTGCTGGCCCAGGGGCTG	0.632													G	177249772	C	G	177249772	3	3	189	1	0	0	0	0	1	0	0	0	5593	739	26	5	1486	5	FAM5B	1	177249772	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4388	177249772	72000849	370	98227											
TDRD5	163589	broad.mit.edu	37	chr1	179561744	179561744	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtcttcagtcctgtaGggcacaatgtctgaacaaga	9	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:179561744G>T	uc001gnf.1	+	2	244	c.-6G>T	c.(-8--4)TAGGG>TATGG		TDRD5_uc010pnp.1_Translation_Start_Site|uc001gne.2_5'Flank|uc010pno.1_5'Flank	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5						DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						CAGTCCTGTAGGGCACAATGT	0.438													T	179561744	G	T	179561744	1	4	189	1	0	0	0	0	0	0	0	0	15730	1015	35	5		5	TDRD5	1	179561744	Translation_Start_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2311972	179561744	69688877	371	98228											
CACNA1E	777	broad.mit.edu	37	chr1	181727985	181727985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggaatgtgtcctgaaggTcatcgcttttggctttttgg	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:181727985T>C	uc001gow.2	+	32	4751	c.4586T>C	c.(4585-4587)GTC>GCC	p.V1529A	CACNA1E_uc009wxs.2_Missense_Mutation_p.V1417A|CACNA1E_uc001gox.1_Missense_Mutation_p.V755A|CACNA1E_uc009wxt.2_Missense_Mutation_p.V755A	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1529	Helical; Name=S2 of repeat IV.|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GTCCTGAAGGTCATCGCTTTT	0.502													C	181727985	T	C	181727985	3	2	189	1	0	0	0	0	1	0	0	0	2542	1667	58	3	4712	3	CACNA1E	1	181727985	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2166241	181727985	67522636	372	98229											
DHX9	1660	broad.mit.edu	37	chr1	182836115	182836115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgctcctgagaaaattAgaagcaggcattcgaggaat	13	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:182836115A>G	uc001gpr.2	+	14	1657	c.1494A>G	c.(1492-1494)TTA>TTG	p.L498L	DHX9_uc001gps.2_Silent_p.L284L	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	498	Helicase ATP-binding.				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			ovary(2)	2						TGAGAAAATTAGAAGCAGGCA	0.303													G	182836115	A	G	182836115	2	3	189	1	0	0	0	0	0	0	0	1	4516	417	15	3		3	DHX9	1	182836115	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1108130	182836115	66414506	373	98230											
LAMC2	3918	broad.mit.edu	37	chr1	183201887	183201887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgactgtggaaagagtTcgggctctgggaagtcagta	15	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:183201887T>C	uc001gqa.2	+	14	2429	c.2115T>C	c.(2113-2115)GTT>GTC	p.V705V	LAMC2_uc001gpz.3_Silent_p.V705V|LAMC2_uc010poa.1_Silent_p.V405V	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	705	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TGGAAAGAGTTCGGGCTCTGG	0.547													C	183201887	T	C	183201887	2	2	189	1	0	0	0	0	0	0	0	1	8615	1770	62	3		3	LAMC2	1	183201887	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	365772	183201887	66048734	374	98231											
RGL1	23179	broad.mit.edu	37	chr1	183881241	183881241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctagggtctgacatgatcAccagtcccactcccaccaaa	6	15	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:183881241A>G	uc001gqo.2	+	15	1745	c.1588A>G	c.(1588-1590)ACC>GCC	p.T530A	RGL1_uc010pof.1_Missense_Mutation_p.T335A|RGL1_uc001gqm.2_Missense_Mutation_p.T565A|RGL1_uc010pog.1_Missense_Mutation_p.T528A|RGL1_uc010poh.1_Missense_Mutation_p.T528A|RGL1_uc010poi.1_Missense_Mutation_p.T501A	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	530					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)|ovary(4)|lung(2)	11						TGACATGATCACCAGTCCCAC	0.488													G	183881241	A	G	183881241	3	3	189	1	0	0	0	0	1	0	0	0	13276	159	6	3	1751	3	RGL1	1	183881241	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	679354	183881241	65369380	375	98232											
RGL1	23179	broad.mit.edu	37	chr1	183885723	183885723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcgctctgtctcggtgaCgtccattacctcgactgtgc	10	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:183885723C>T	uc001gqo.2	+	16	2049	c.1892C>T	c.(1891-1893)ACG>ATG	p.T631M	RGL1_uc001gqm.2_Missense_Mutation_p.T666M|RGL1_uc010pog.1_Missense_Mutation_p.T629M|RGL1_uc010poh.1_Missense_Mutation_p.T629M|RGL1_uc010poi.1_Missense_Mutation_p.T602M	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	631					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)|ovary(4)|lung(2)	11						GTCTCGGTGACGTCCATTACC	0.502													T	183885723	C	T	183885723	3	4	189	1	0	0	0	0	1	0	0	0	13276	536	19	1	2059	1	RGL1	1	183885723	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4482	183885723	65364898	376	98233											
C1orf26	54823	broad.mit.edu	37	chr1	185137497	185137497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcatacagatgttctgtActataatataaaaagaagac	6	5	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:185137497A>G	uc001grg.3	+	4	305	c.191A>G	c.(190-192)TAC>TGC	p.Y64C	C1orf26_uc001grh.3_Missense_Mutation_p.Y64C	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	64											0						GATGTTCTGTACTATAATATA	0.259													G	185137497	A	G	185137497	3	3	189	1	0	0	0	0	1	0	0	0	2035	391	14	3	201	3	C1orf26	1	185137497	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1251774	185137497	64113124	377	98234											
HMCN1	83872	broad.mit.edu	37	chr1	185962440	185962440	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcaaattaaatgtccaTggtgagtcttgaaatgagaa	10	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:185962440T>C	uc001grq.1	+	23	3733	c.3504T>C	c.(3502-3504)CAT>CAC	p.H1168H	HMCN1_uc001grr.1_Silent_p.H509H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1168					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAATGTCCATGGTGAGTCTT	0.388													C	185962440	T	C	185962440	2	2	189	1	0	0	0	0	0	0	0	1	7220	1478	51	3		3	HMCN1	1	185962440	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	824943	185962440	63288181	378	98235											
PRG4	10216	broad.mit.edu	37	chr1	186281960	186281960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacttccaaatgtggttAcctcagctatatcactgccc	8	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:186281960A>G	uc001gru.3	+	12	4102	c.4051A>G	c.(4051-4053)ACC>GCC	p.T1351A	PRG4_uc001grt.3_Missense_Mutation_p.T1310A|PRG4_uc009wyl.2_Missense_Mutation_p.T1258A|PRG4_uc009wym.2_Missense_Mutation_p.T1217A|PRG4_uc010poo.1_RNA|TPR_uc001grv.2_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1351					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AAATGTGGTTACCTCAGCTAT	0.388													G	186281960	A	G	186281960	3	3	189	1	0	0	0	0	1	0	0	0	12481	391	14	3	4093	3	PRG4	1	186281960	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	319520	186281960	62968661	379	98236											
TPR	7175	broad.mit.edu	37	chr1	186313637	186313637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccttcgcagcttgtAgagcttcaacatcagcagca	8	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:186313637A>G	uc001grv.2	-	25	3584	c.3287T>C	c.(3286-3288)CTA>CCA	p.L1096P		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1096	Potential.				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			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		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)		CGCAGCTTGTAGAGCTTCAAC	0.403			T	NTRK1	papillary thyroid								G	186313637	A	G	186313637	3	3	189	1	0	0	0	0	1	0	0	0	16413	420	15	3	3912	3	TPR	1	186313637	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	31677	186313637	62936984	380	98237											
PDC	5132	broad.mit.edu	37	chr1	186413213	186413214	+	Frame_Shift_Ins	INS	-	-	A													aagactccacatccccagcaINSaaaaattcttcagcaaactg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:186413212_186413213C>CA	uc001gsa.3	-	3	712_713	c.639_640G>TG	c.(637-642)tttgctfs	p.F213fs	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Frame_Shift_Ins_p.F161fs	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	213					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ACATCCCCAGCAAAAAATTCTT	0.381													A	186413214	-	A	186413213	7	5	189	1	0	1	1	0	0	0	0	0	11614	127	5	0	105	0	PDC	1	186413213	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	99576	186413213	62837408	381	98238											
FAM5C	339479	broad.mit.edu	37	chr1	190067644	190067644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataacactgcaggggtaggTccaacttagtccgctcccag	10	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:190067644T>C	uc001gse.1	-	8	2037	c.1805A>G	c.(1804-1806)GAC>GGC	p.D602G	FAM5C_uc010pot.1_Missense_Mutation_p.D500G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	602						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CAGGGGTAGGTCCAACTTAGT	0.468													C	190067644	T	C	190067644	3	2	189	1	0	0	0	0	1	0	0	0	5594	1667	58	3	499	3	FAM5C	1	190067644	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3654431	190067644	59182977	382	98239											
RGS1	5996	broad.mit.edu	37	chr1	192547467	192547467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatcttttgccctgtaaAgcagaagagatatataaagc	8	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:192547467A>G	uc001gsi.1	+	4	462	c.396A>G	c.(394-396)AAA>AAG	p.K132K	RGS1_uc010pou.1_Silent_p.K132K	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	132	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				TGCCCTGTAAAGCAGAAGAGA	0.368													G	192547467	A	G	192547467	2	3	189	1	0	0	0	0	0	0	0	1	13292	69	3	3		3	RGS1	1	192547467	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2479823	192547467	56703154	383	98240											
B3GALT2	8707	broad.mit.edu	37	chr1	193149827	193149827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgctatctttgtttcgaTtgggtgcatatcctcgcatt	8	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:193149827T>C	uc001gtc.3	-	2	1581	c.866A>G	c.(865-867)AAT>AGT	p.N289S	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	289	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						TTTGTTTCGATTGGGTGCATA	0.413													C	193149827	T	C	193149827	3	2	189	1	0	0	0	0	1	0	0	0	1248	1493	52	3	406	3	B3GALT2	1	193149827	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	602360	193149827	56100794	384	98241											
CFHR2	3080	broad.mit.edu	37	chr1	196928105	196928105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcaagaacaggtgacatAgttgaatttgtttgtaaatc	8	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:196928105A>G	uc001gtq.1	+	5	785	c.708A>G	c.(706-708)ATA>ATG	p.I236M	CFHR2_uc001gtr.1_Missense_Mutation_p.I112M	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	236	Sushi 4.					extracellular region				skin(2)|ovary(1)	3						CAGGTGACATAGTTGAATTTG	0.313													G	196928105	A	G	196928105	3	3	189	1	0	0	0	0	1	0	0	0	3285	410	15	3	726	3	CFHR2	1	196928105	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3778278	196928105	52322516	385	98242											
F13B	2165	broad.mit.edu	37	chr1	197026524	197026524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaactatttctccatgacGataagttgttgaatgtgttt	8	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:197026524G>A	uc001gtt.1	-	6	921	c.877C>T	c.(877-879)CGT>TGT	p.R293C		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	293	Sushi 5.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCTCCATGACGATAAGTTGTT	0.368													A	197026524	G	A	197026524	3	1	189	1	0	0	0	0	1	0	0	0	5341	1058	37	1	1136	1	F13B	1	197026524	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	98419	197026524	52224097	386	98243											
ASPM	259266	broad.mit.edu	37	chr1	197091116	197091116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgagtcgagcagctcttaTttctttacgaagatccaaaa	7	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:197091116T>C	uc001gtu.2	-	16	4056	c.3799A>G	c.(3799-3801)ATA>GTA	p.I1267V	ASPM_uc001gtv.2_Missense_Mutation_p.I1267V|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1267					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GCAGCTCTTATTTCTTTACGA	0.333													C	197091116	T	C	197091116	3	2	189	1	0	0	0	0	1	0	0	0	1056	1493	52	3	6686	3	ASPM	1	197091116	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	64592	197091116	52159505	387	98244											
ASPM	259266	broad.mit.edu	37	chr1	197097731	197097731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccaataagccaaggtgaCgggaaaggtcaccttcacca	9	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:197097731C>T	uc001gtu.2	-	10	3082	c.2825G>A	c.(2824-2826)CGT>CAT	p.R942H	ASPM_uc001gtv.2_Missense_Mutation_p.R942H|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	942	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GCCAAGGTGACGGGAAAGGTC	0.378													T	197097731	C	T	197097731	3	4	189	1	0	0	0	0	1	0	0	0	1056	536	19	1	7684	1	ASPM	1	197097731	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6615	197097731	52152890	388	98245											
ZBTB41	360023	broad.mit.edu	37	chr1	197157461	197157461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctttaaccgagcaaaccGtgatttaaaatgttcttcac	6	9	2	1	rs146939360	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:197157461G>A	uc001gtx.1	-	4	1576	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	503	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CGAGCAAACCGTGATTTAAAA	0.348													A	197157461	G	A	197157461	3	1	189	1	0	0	0	0	1	0	0	0	17540	1144	40	1	1250	1	ZBTB41	1	197157461	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	59730	197157461	52093160	389	98246											
ZBTB41	360023	broad.mit.edu	37	chr1	197168674	197168674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcatctgacatctcctcCtctagctcatcttcttcagc	3	16	8	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:197168674C>T	uc001gtx.1	-	1	999	c.930G>A	c.(928-930)GAG>GAA	p.E310E	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						ACATCTCCTCCTCTAGCTCAT	0.378													T	197168674	C	T	197168674	2	4	189	1	0	0	0	0	0	0	0	1	17540	680	24	4		4	ZBTB41	1	197168674	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	11213	197168674	52081947	390	98247											
ZBTB41	360023	broad.mit.edu	37	chr1	197169174	197169174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaaaattctgatgtgtAaagaaattcaagcaaatgct	6	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:197169174A>G	uc001gtx.1	-	1	499	c.430T>C	c.(430-432)TAC>CAC	p.Y144H	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	144	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCTGATGTGTAAAGAAATTCA	0.333													G	197169174	A	G	197169174	3	3	189	1	0	0	0	0	1	0	0	0	17540	362	13	3	2339	3	ZBTB41	1	197169174	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	500	197169174	52081447	391	98248											
PTPRC	5788	broad.mit.edu	37	chr1	198668766	198668766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgctggaactgacacGcagacattcagcggctccgc	10	16	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:198668766G>A	uc001gur.1	+	5	546	c.366G>A	c.(364-366)ACG>ACA	p.T122T	PTPRC_uc001gus.1_Silent_p.T122T|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Silent_p.T58T|PTPRC_uc009wzf.1_Silent_p.T58T|PTPRC_uc010ppg.1_Silent_p.T58T|PTPRC_uc001guu.1_Silent_p.T165T|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	122	Extracellular (Potential).				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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GAACTGACACGCAGACATTCA	0.527											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	198668766	G	A	198668766	2	1	189	1	0	0	0	0	0	0	0	1	12797	1074	38	1		1	PTPRC	1	198668766	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1499592	198668766	50581855	392	98249											
PTPRC	5788	broad.mit.edu	37	chr1	198668804	198668804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccaatgcaaaactcaAccctaccccaggcagcaatg	7	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:198668804A>G	uc001gur.1	+	5	584	c.404A>G	c.(403-405)AAC>AGC	p.N135S	PTPRC_uc001gus.1_Missense_Mutation_p.N135S|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.N71S|PTPRC_uc009wzf.1_Missense_Mutation_p.N71S|PTPRC_uc010ppg.1_Missense_Mutation_p.N71S|PTPRC_uc001guu.1_Missense_Mutation_p.N178S|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	135	Extracellular (Potential).				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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GCAAAACTCAACCCTACCCCA	0.527											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	198668804	A	G	198668804	3	3	189	1	0	0	0	0	1	0	0	0	12797	43	2	3	429	3	PTPRC	1	198668804	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	38	198668804	50581817	393	98250											
PTPRC	5788	broad.mit.edu	37	chr1	198687384	198687384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagtcgcataagaattgcGatttccgtgtaaaagatctt	9	6	1	3	rs144856406	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:198687384G>A	uc001gur.1	+	14	1786	c.1606G>A	c.(1606-1608)GAT>AAT	p.D536N	PTPRC_uc001gus.1_Missense_Mutation_p.D488N|PTPRC_uc001gut.1_Missense_Mutation_p.D375N|PTPRC_uc009wzf.1_Missense_Mutation_p.D424N|PTPRC_uc010ppg.1_Missense_Mutation_p.D472N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	536	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TAAGAATTGCGATTTCCGTGT	0.388													A	198687384	G	A	198687384	3	1	189	1	0	0	0	0	1	0	0	0	12797	1058	37	1	1667	1	PTPRC	1	198687384	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	18580	198687384	50563237	394	98251											
KIF14	9928	broad.mit.edu	37	chr1	200562825	200562825	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtgatttccaaaatatgTtttccatttacatatgtctt	4	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:200562825T>C	uc010ppk.1	-	15	3061	c.2622A>G	c.(2620-2622)AAA>AAG	p.K874K	KIF14_uc010ppj.1_Silent_p.K383K	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	874	FHA.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						CCAAAATATGTTTTCCATTTA	0.264													C	200562825	T	C	200562825	2	2	189	1	0	0	0	0	0	0	0	1	8276	1722	60	3		3	KIF14	1	200562825	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1875441	200562825	48687796	395	98252											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200818150	200818150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttggcctctgaaatggtGcatcttaggatgaaactaga	11	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:200818150G>A	uc001gvl.2	+	12	2556	c.2286G>A	c.(2284-2286)GTG>GTA	p.V762V	CAMSAP1L1_uc001gvk.2_Silent_p.V751V|CAMSAP1L1_uc001gvm.2_Silent_p.V735V	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	762						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CTGAAATGGTGCATCTTAGGA	0.448													A	200818150	G	A	200818150	2	1	189	1	0	0	0	0	0	0	0	1	2612	1306	46	2		2	CAMSAP1L1	1	200818150	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	255325	200818150	48432471	396	98253											
CACNA1S	779	broad.mit.edu	37	chr1	201019593	201019594	+	Frame_Shift_Ins	INS	-	-	G													cccaggatggaccagtcccgINSggtgaggtagtcaaaattgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:201019592_201019593C>CG	uc001gvv.3	-	33	4392_4393	c.4165_4166G>CG	c.(4165-4167)cggfs	p.R1389fs		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1389	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				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)	GGACCAGTCCCGGGTGAGGTAG	0.53													G	201019594	-	G	201019593	7	5	189	1	0	1	1	0	0	0	0	0	2547	1115	39	0	1500	0	CACNA1S	1	201019593	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	201443	201019593	48231028	397	98254											
CACNA1S	779	broad.mit.edu	37	chr1	201052326	201052326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagaggctggttgtggtGctctgaggcgatagacaggg	18	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:201052326G>A	uc001gvv.2	-	10	1584	c.1357C>T	c.(1357-1359)CAC>TAC	p.H453Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	453	Extracellular (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGTTGTGGTGCTCTGAGGCG	0.547													A	201052326	G	A	201052326	3	1	189	1	0	0	0	0	1	0	0	0	2547	1319	46	2	4404	2	CACNA1S	1	201052326	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	32733	201052326	48198295	398	98255											
NAV1	89796	broad.mit.edu	37	chr1	201617978	201617978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatggccaaggccagcgCggctgagctgaaggtcttca	15	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:201617978C>T	uc001gwu.2	+	1	529	c.182C>T	c.(181-183)GCG>GTG	p.A61V		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	61					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						AAGGCCAGCGCGGCTGAGCTG	0.393													T	201617978	C	T	201617978	3	4	189	1	0	0	0	0	1	0	0	0	10183	768	27	1	184	1	NAV1	1	201617978	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	565652	201617978	47632643	399	98256											
NAV1	89796	broad.mit.edu	37	chr1	201751603	201751603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttagatgtttccaacagtGcagagccaggattcctggct	11	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:201751603G>A	uc001gwu.2	+	6	2310	c.1963G>A	c.(1963-1965)GCA>ACA	p.A655T	NAV1_uc001gwv.1_Missense_Mutation_p.A163T|NAV1_uc001gww.1_Missense_Mutation_p.A264T|NAV1_uc001gwx.2_Missense_Mutation_p.A264T|NAV1_uc001gwy.1_Missense_Mutation_p.A36T	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	655					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TTCCAACAGTGCAGAGCCAGG	0.572													A	201751603	G	A	201751603	3	1	189	1	0	0	0	0	1	0	0	0	10183	1319	46	2	2042	2	NAV1	1	201751603	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	133625	201751603	47499018	400	98257											
ELF3	1999	broad.mit.edu	37	chr1	201983146	201983146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgagaagctgagccgggCcatgaggtgagctggcggcc	17	11	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:201983146C>T	uc001gxg.3	+	7	4187	c.995C>T	c.(994-996)GCC>GTC	p.A332V	ELF3_uc001gxi.3_Missense_Mutation_p.A332V|ELF3_uc001gxh.3_Missense_Mutation_p.A332V	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	332	ETS.				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				0						CTGAGCCGGGCCATGAGGTGA	0.597													T	201983146	C	T	201983146	3	4	189	1	0	0	0	0	1	0	0	0	5055	739	26	2	1021	2	ELF3	1	201983146	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	231543	201983146	47267475	401	98258											
PTPN7	5778	broad.mit.edu	37	chr1	202123315	202123315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctctgcctcctaccTccttgccctctcggagctga	9	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:202123315T>G	uc001gxm.1	-	6	736	c.605A>C	c.(604-606)GAG>GCG	p.E202A	PTPN7_uc001gxl.1_Missense_Mutation_p.E241A|PTPN7_uc001gxn.1_Missense_Mutation_p.E202A|PTPN7_uc010ppv.1_Missense_Mutation_p.E21A|PTPN7_uc010ppw.1_Missense_Mutation_p.E150A|PTPN7_uc010ppx.1_Missense_Mutation_p.E276A|PTPN7_uc010ppy.1_Intron|PTPN7_uc001gxo.1_Missense_Mutation_p.E154A	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	202	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						GCCTCCTACCTCCTTGCCCTC	0.587													G	202123315	T	G	202123315	3	3	189	1	0	0	0	0	1	0	0	0	12793	1565	54	5	497	5	PTPN7	1	202123315	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	140169	202123315	47127306	402	98259											
KDM5B	10765	broad.mit.edu	37	chr1	202700079	202700079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagcttcggtcagtctgCtgagcagggcttggctttgc	16	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:202700079C>T	uc001gyf.2	-	25	4250	c.4134G>A	c.(4132-4134)CAG>CAA	p.Q1378Q	KDM5B_uc009xag.2_Silent_p.Q1414Q|KDM5B_uc001gyg.1_Silent_p.Q1220Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1378					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			ovary(2)|breast(2)|urinary_tract(1)	5						GGTCAGTCTGCTGAGCAGGGC	0.517													T	202700079	C	T	202700079	2	4	189	1	0	0	0	0	0	0	0	1	8134	796	28	2		2	KDM5B	1	202700079	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	576764	202700079	46550542	403	98260											
KDM5B	10765	broad.mit.edu	37	chr1	202702811	202702811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattcgcaggccctgtgaAatactgggtaccgccacaca	10	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:202702811A>G	uc001gyf.2	-	23	3743	c.3627T>C	c.(3625-3627)ATT>ATC	p.I1209I	KDM5B_uc009xag.2_Silent_p.I1245I|KDM5B_uc001gyg.1_Silent_p.I1051I	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1209	PHD-type 2.				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			ovary(2)|breast(2)|urinary_tract(1)	5						GGCCCTGTGAAATACTGGGTA	0.522													G	202702811	A	G	202702811	2	3	189	1	0	0	0	0	0	0	0	1	8134	10	1	3		3	KDM5B	1	202702811	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2732	202702811	46547810	404	98261											
PPFIA4	8497	broad.mit.edu	37	chr1	203012612	203012612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagaactgaaagcagaaCggaataacacacgggtaagt	10	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:203012612C>T	uc009xaj.2	+	7	763	c.763C>T	c.(763-765)CGG>TGG	p.R255W	PPFIA4_uc010pqf.1_5'Flank			O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						GAAAGCAGAACGGAATAACAC	0.542													T	203012612	C	T	203012612	3	4	189	1	0	0	0	0	1	0	0	0	12312	551	19	1		1	PPFIA4	1	203012612	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	309801	203012612	46238009	405	98262											
PPFIA4	8497	broad.mit.edu	37	chr1	203024745	203024745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggccgctccacacctaAgctcacctcccgcagtgctg	9	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:203024745A>G	uc001gyz.2	+	3	1090	c.497A>G	c.(496-498)AAG>AGG	p.K166R	PPFIA4_uc009xaj.2_Missense_Mutation_p.K797R|PPFIA4_uc010pqf.1_Missense_Mutation_p.K379R|PPFIA4_uc001gza.2_Missense_Mutation_p.K166R|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	166					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TCCACACCTAAGCTCACCTCC	0.662													G	203024745	A	G	203024745	3	3	189	1	0	0	0	0	1	0	0	0	12312	72	3	3	507	3	PPFIA4	1	203024745	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	12133	203024745	46225876	406	98263											
FMOD	2331	broad.mit.edu	37	chr1	203317279	203317279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgggtaagggtcatagggAtcgtagtaggtggactgctg	17	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:203317279A>G	uc001gzr.2	-	2	256	c.120T>C	c.(118-120)GAT>GAC	p.D40D	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	40					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTCATAGGGATCGTAGTAGG	0.592													G	203317279	A	G	203317279	2	3	189	1	0	0	0	0	0	0	0	1	5959	330	12	3		3	FMOD	1	203317279	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	292534	203317279	45933342	407	98264											
PLEKHA6	22874	broad.mit.edu	37	chr1	204236645	204236645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaccaggacgaaccagcGcttgttccactgcttaaccc	7	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:204236645G>A	uc001hau.2	-	5	555	c.238C>T	c.(238-240)CGC>TGC	p.R80C		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	80	PH.									ovary(3)|pancreas(1)	4	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)			ACGAACCAGCGCTTGTTCCAC	0.597													A	204236645	G	A	204236645	3	1	189	1	0	0	0	0	1	0	0	0	12060	1087	38	1	2980	1	PLEKHA6	1	204236645	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	919366	204236645	45013976	408	98265											
PIK3C2B	5287	broad.mit.edu	37	chr1	204418333	204418333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatgacactgtctgGctggtggaaattaggtgcac	14	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:204418333G>A	uc001haw.2	-	15	2805	c.2326C>T	c.(2326-2328)CCA>TCA	p.P776S	PIK3C2B_uc010pqv.1_Missense_Mutation_p.P776S	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	776					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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			ACACTGTCTGGCTGGTGGAAA	0.547													A	204418333	G	A	204418333	3	1	189	1	0	0	0	0	1	0	0	0	11910	1203	42	2	2658	2	PIK3C2B	1	204418333	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	181688	204418333	44832288	409	98266											
MDM4	4194	broad.mit.edu	37	chr1	204499948	204499948	+	Splice_Site	DEL	A	A	-													ctccgtgaaagacccaaggtAaaaacagtgagggcttgcgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:204499947_204499947TA>T	uc001hba.3	+	4	453	c.287_splice	c.e4+2	p.S96_splice	MDM4_uc001hbd.2_Splice_Site|MDM4_uc010pqw.2_Splice_Site|MDM4_uc010pqx.2_Splice_Site|MDM4_uc001hay.2_Splice_Site_p.S96_splice|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Splice_Site|MDM4_uc010pqy.2_Splice_Site|MDM4_uc001hbc.3_Splice_Site|MDM4_uc009xbe.1_Splice_Site	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	96	SWIB.				G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGACCCAAGGTAAAAACAGTG	0.398			A		"GBM, bladder, retinoblastoma"								-	204499948	A	-	204499948	8	5	189	1	0	1	0	1	0	0	1	0	9414	377	13	0		0	MDM4	1	204499948	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	81615	204499948	44750673	410	98267											
NFASC	23114	broad.mit.edu	37	chr1	204937448	204937448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagcagccagatggtgcttCgtggcatggacctcctgctg	14	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:204937448C>T	uc001hbj.2	+	9	1106	c.778C>T	c.(778-780)CGT>TGT	p.R260C	NFASC_uc001hbh.2_Missense_Mutation_p.R260C|NFASC_uc010pqz.1_Missense_Mutation_p.R254C|NFASC_uc010pra.1_Missense_Mutation_p.R271C|NFASC_uc001hbi.2_Missense_Mutation_p.R271C|NFASC_uc009xbg.1_Missense_Mutation_p.R344C|NFASC_uc010prb.1_Missense_Mutation_p.R271C|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.R81C	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	260	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GATGGTGCTTCGTGGCATGGA	0.582													T	204937448	C	T	204937448	3	4	189	1	0	0	0	0	1	0	0	0	10359	884	31	1	859	1	NFASC	1	204937448	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	437500	204937448	44313173	411	98268											
NFASC	23114	broad.mit.edu	37	chr1	204945914	204945914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggccaaggcctacctcAccgtgctaggtaactgccca	9	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:204945914A>G	uc001hbj.2	+	16	2150	c.1822A>G	c.(1822-1824)ACC>GCC	p.T608A	NFASC_uc001hbh.2_Missense_Mutation_p.T608A|NFASC_uc010pqz.1_Missense_Mutation_p.T602A|NFASC_uc010pra.1_Missense_Mutation_p.T619A|NFASC_uc001hbi.2_Missense_Mutation_p.T619A|NFASC_uc010prb.1_Missense_Mutation_p.T619A|NFASC_uc010prc.1_Missense_Mutation_p.T175A|NFASC_uc001hbk.1_Missense_Mutation_p.T429A	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	608	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GGCCTACCTCACCGTGCTAGG	0.652													G	204945914	A	G	204945914	3	3	189	1	0	0	0	0	1	0	0	0	10359	159	6	3	1931	3	NFASC	1	204945914	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8466	204945914	44304707	412	98269											
TMEM81	388730	broad.mit.edu	37	chr1	205052683	205052683	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaagttcttgaagctgtcActgctgcaggccccccctta	9	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:205052683A>G	uc001hbt.2	-	1	906	c.766T>C	c.(766-768)TGA>CGA	p.*256R		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	256						integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGAAGCTGTCACTGCTGCAGG	0.552													G	205052683	A	G	205052683	4	3	189	1	0	0	0	0	0	0	0	0	16202	172	6	3	5	3	TMEM81	1	205052683	Nonstop_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	106769	205052683	44197938	413	98270											
RBBP5	5929	broad.mit.edu	37	chr1	205074295	205074295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatgaccatctcggctccAgctgaggaaaaaaaaggggt	11	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:205074295A>G	uc001hbu.1	-	4	350	c.220T>C	c.(220-222)TGG>CGG	p.W74R	RBBP5_uc010prd.1_Missense_Mutation_p.W109R|RBBP5_uc001hbv.1_Missense_Mutation_p.W74R|RBBP5_uc010pre.1_5'UTR	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	74	WD 2.				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			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCTCGGCTCCAGCTGAGGAAA	0.433													G	205074295	A	G	205074295	3	3	189	1	0	0	0	0	1	0	0	0	13102	202	7	3	1440	3	RBBP5	1	205074295	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	21612	205074295	44176326	414	98271											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312636	205312636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcccccgatggcatagaCctggcccccggtctccagca	9	18	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:205312636C>T	uc001hcf.1	-	2	665	c.97G>A	c.(97-99)GTC>ATC	p.V33I	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.V33I	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	33	Kelch 2.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGCATAGACCTGGCCCCCG	0.677													T	205312636	C	T	205312636	3	4	189	1	0	0	0	0	1	0	0	0	8362	507	18	4	975	4	KLHDC8A	1	205312636	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	238341	205312636	43937985	415	98272											
RAB7L1	8934	broad.mit.edu	37	chr1	205739514	205739514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggtttgtagattgatgtAgtccccttgggtggacaaag	13	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:205739514A>G	uc001hdf.3	-	6	908	c.568T>C	c.(568-570)TAC>CAC	p.Y190H	RAB7L1_uc009xbp.2_Missense_Mutation_p.Y118H|RAB7L1_uc001hde.3_Missense_Mutation_p.Y190H|RAB7L1_uc010prr.1_Missense_Mutation_p.Y166H|RAB7L1_uc009xbq.2_RNA	NM_003929	NP_003920	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1 isoform	190					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGATTGATGTAGTCCCCTTGG	0.418													G	205739514	A	G	205739514	3	3	189	1	0	0	0	0	1	0	0	0	12955	420	15	3	47	3	RAB7L1	1	205739514	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	426878	205739514	43511107	416	98273											
SRGAP2	23380	broad.mit.edu	37	chr1	206566999	206566999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgcatctgtcttcaagtActacatccatgacctatctg	5	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:206566999A>G	uc001hdy.2	+	4	872	c.539A>G	c.(538-540)TAC>TGC	p.Y180C	SRGAP2_uc009xbt.2_Missense_Mutation_p.Y104C|SRGAP2_uc010prt.1_Missense_Mutation_p.Y104C|SRGAP2_uc001hdx.2_Missense_Mutation_p.Y180C|SRGAP2_uc010pru.1_Missense_Mutation_p.Y104C|SRGAP2_uc010prv.1_Missense_Mutation_p.Y104C	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	267					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					GTCTTCAAGTACTACATCCAT	0.478													G	206566999	A	G	206566999	3	3	189	1	0	0	0	0	1	0	0	0	15145	391	14	3	554	3	SRGAP2	1	206566999	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	827485	206566999	42683622	417	98274											
CR2	1380	broad.mit.edu	37	chr1	207639972	207639972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggtacagttgttcaggtAccttccgcctcattggagaa	10	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:207639972A>G	uc001hfw.2	+	2	254	c.160A>G	c.(160-162)ACC>GCC	p.T54A	CR2_uc001hfv.2_Missense_Mutation_p.T54A|CR2_uc009xch.2_Missense_Mutation_p.T54A	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	54	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						TTGTTCAGGTACCTTCCGCCT	0.413													G	207639972	A	G	207639972	3	3	189	1	0	0	0	0	1	0	0	0	3842	391	14	3	166	3	CR2	1	207639972	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1072973	207639972	41610649	418	98275											
CR1	1378	broad.mit.edu	37	chr1	207679344	207679344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacatatctgaactatgaaTgccgccctggttattccgga	10	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:207679344T>C	uc001hfy.2	+	2	357	c.217T>C	c.(217-219)TGC>CGC	p.C73R	CR1_uc009xcl.1_Missense_Mutation_p.C73R|CR1_uc001hfx.2_Missense_Mutation_p.C73R|CR1_uc010psg.1_Missense_Mutation_p.C73R|CR1_uc009xcj.1_Missense_Mutation_p.C73R|CR1_uc009xck.1_Missense_Mutation_p.C73R	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	73	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						GAACTATGAATGCCGCCCTGG	0.473													C	207679344	T	C	207679344	3	2	189	1	0	0	0	0	1	0	0	0	3840	1464	51	3	223	3	CR1	1	207679344	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	39372	207679344	41571277	419	98276											
CR1L	1379	broad.mit.edu	37	chr1	207850873	207850873	+	Frame_Shift_Del	DEL	A	A	-													ccgttttctatcatctgcctAaaaaactcagtctggacaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:207850872_207850872TA>T	uc001hga.4	+	1	357	c.236_236TA>T	c.(235-237)ctafs	p.L79fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	79	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCATCTGCCTAAAAAACTCA	0.438													-	207850873	A	-	207850873	7	5	189	1	0	1	0	1	0	0	0	0	3841	349	13	0	243	0	CR1L	1	207850873	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	171529	207850873	41399748	420	98277											
CR1L	1379	broad.mit.edu	37	chr1	207867785	207867785	+	Missense_Mutation	SNP	C	C	T													tcactatggatcagtggtgaCctaccactgcaatcttggaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:207867785C>T	uc001hga.3	+	5	672	c.551C>T	c.(550-552)ACC>ATC	p.T184I	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	184	Sushi 3.					cytoplasm|extracellular region|membrane					0						TCAGTGGTGACCTACCACTGC	0.488													T	207867785	C	T	207867785	3	4	189	1	0	0	0	0	1	0	0	0	3841	507	18	4	569	4	CR1L	1	207867785	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	16912	207867785	41382836	421	98278	486	2									
CR1L	1379	broad.mit.edu	37	chr1	207867788	207867788	+	Missense_Mutation	SNP	A	A	G													ctatggatcagtggtgacctAccactgcaatcttggaagca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:207867788A>G	uc001hga.3	+	5	675	c.554A>G	c.(553-555)TAC>TGC	p.Y185C	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	185	Sushi 3.					cytoplasm|extracellular region|membrane					0						GTGGTGACCTACCACTGCAAT	0.488													G	207867788	A	G	207867788	3	3	189	1	0	0	0	0	1	0	0	0	3841	391	14	3	572	3	CR1L	1	207867788	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3	207867788	41382833	422	98279	486	2									
CD46	4179	broad.mit.edu	37	chr1	207940424	207940424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatttggaaaaaaattttActacaaagcaacagttatgt	7	4	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:207940424A>G	uc001hgc.2	+	6	896	c.740A>G	c.(739-741)TAC>TGC	p.Y247C	CD46_uc001hgd.2_Missense_Mutation_p.Y247C|CD46_uc001hge.2_Missense_Mutation_p.Y247C|CD46_uc001hgf.2_Missense_Mutation_p.Y247C|CD46_uc001hgg.2_Missense_Mutation_p.Y247C|CD46_uc001hgh.2_Missense_Mutation_p.Y247C|CD46_uc001hgi.2_Missense_Mutation_p.Y247C|CD46_uc001hgj.2_Missense_Mutation_p.Y247C|CD46_uc001hgk.2_Missense_Mutation_p.Y247C|CD46_uc001hgl.2_Missense_Mutation_p.Y247C|CD46_uc001hgm.2_Missense_Mutation_p.Y247C|CD46_uc001hgn.2_Missense_Mutation_p.Y247C|CD46_uc001hgo.2_Missense_Mutation_p.Y247C|CD46_uc001hgp.2_Missense_Mutation_p.Y247C	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	247	Extracellular (Potential).|Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						AAAAAATTTTACTACAAAGCA	0.378													G	207940424	A	G	207940424	3	3	189	1	0	0	0	0	1	0	0	0	3018	391	14	3	762	3	CD46	1	207940424	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	72636	207940424	41310197	423	98280											
PLXNA2	5362	broad.mit.edu	37	chr1	208206749	208206749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcaccgtggtcatggTtcttcaccagatgccacacc	9	14	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:208206749T>C	uc001hgz.2	-	28	5728	c.4970A>G	c.(4969-4971)AAC>AGC	p.N1657S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1657	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTGGTCATGGTTCTTCACCAG	0.622													C	208206749	T	C	208206749	3	2	189	1	0	0	0	0	1	0	0	0	12120	1725	60	3	734	3	PLXNA2	1	208206749	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	266325	208206749	41043872	424	98281											
PLXNA2	5362	broad.mit.edu	37	chr1	208315787	208315788	+	Frame_Shift_Ins	INS	-	-	G													tcgtactggaccccaccatgINSggggggaccgtcggcccgaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:208315786_208315787T>TG	uc001hgz.3	-	3	2151_2152	c.1393_1394A>CA	c.(1393-1395)catfs	p.H465fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(2)		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)		GACCCCACCATGGGGGGGACCG	0.594													G	208315788	-	G	208315787	7	5	189	1	0	1	1	0	0	0	0	0	12120	1348	47	0	4407	0	PLXNA2	1	208315787	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	109038	208315787	40934834	425	98282											
LAMB3	3914	broad.mit.edu	37	chr1	209803132	209803132	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggttccggaaatagTgcagctgacaccgctcacag	13	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:209803132T>A	uc001hhg.2	-	9	1472	c.1082A>T	c.(1081-1083)CAC>CTC	p.H361L	LAMB3_uc009xco.2_Missense_Mutation_p.H361L|LAMB3_uc001hhh.2_Missense_Mutation_p.H361L|LAMB3_uc010psl.1_RNA	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	361	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGGAAATAGTGCAGCTGACA	0.592													A	209803132	T	A	209803132	3	1	189	1	0	0	0	0	1	0	0	0	8612	1696	59	5	2492	5	LAMB3	1	209803132	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1487345	209803132	39447489	426	98283											
IRF6	3664	broad.mit.edu	37	chr1	209964008	209964008	+	Missense_Mutation	SNP	T	T	C													caggatcagtcctctgtccaTgacgtccagcagcttgctag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:209964008T>C	uc001hhq.1	-	7	1155	c.892A>G	c.(892-894)ATG>GTG	p.M298V	IRF6_uc010psm.1_Missense_Mutation_p.M203V|IRF6_uc009xct.1_Missense_Mutation_p.M298V	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	298					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCTCTGTCCATGACGTCCAGC	0.547										HNSCC(57;0.16)			C	209964008	T	C	209964008	3	2	189	1	0	0	0	0	1	0	0	0	7834	1464	51	3	523	3	IRF6	1	209964008	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	160876	209964008	39286613	427	98284	487	3									
IRF6	3664	broad.mit.edu	37	chr1	209964012	209964012	+	Silent	SNP	G	G	A													atcagtcctctgtccatgacGtccagcagcttgctagtgaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:209964012G>A	uc001hhq.1	-	7	1151	c.888C>T	c.(886-888)GAC>GAT	p.D296D	IRF6_uc010psm.1_Silent_p.D201D|IRF6_uc009xct.1_Silent_p.D296D	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	296			FTSKLLD -> L (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTCCATGACGTCCAGCAGCT	0.547										HNSCC(57;0.16)			A	209964012	G	A	209964012	2	1	189	1	0	0	0	0	0	0	0	1	7834	1136	40	1		1	IRF6	1	209964012	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4	209964012	39286609	428	98285	487	3									
IRF6	3664	broad.mit.edu	37	chr1	209964020	209964020	+	Silent	SNP	G	G	A													tctgtccatgacgtccagcaGcttgctagtgaacagcttct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:209964020G>A	uc001hhq.1	-	7	1143	c.880C>T	c.(880-882)CTG>TTG	p.L294L	IRF6_uc010psm.1_Silent_p.L199L|IRF6_uc009xct.1_Silent_p.L294L	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	294			FTSKLLD -> L (in VWS).|L -> P (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACGTCCAGCAGCTTGCTAGTG	0.547										HNSCC(57;0.16)			A	209964020	G	A	209964020	2	1	189	1	0	0	0	0	0	0	0	1	7834	962	34	2		2	IRF6	1	209964020	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	8	209964020	39286601	429	98286	487	3									
INTS7	25896	broad.mit.edu	37	chr1	212142038	212142038	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcttaaaggattcagtggTgtactagctgcctgggaaaa	12	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:212142038T>C	uc001hiw.1	-	14	1932	c.1827A>G	c.(1825-1827)ACA>ACG	p.T609T	INTS7_uc009xdb.1_Silent_p.T609T|INTS7_uc001hix.1_Silent_p.T485T|INTS7_uc001hiy.1_Silent_p.T609T|INTS7_uc010pta.1_Silent_p.T560T	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	609					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GATTCAGTGGTGTACTAGCTG	0.363													C	212142038	T	C	212142038	2	2	189	1	0	0	0	0	0	0	0	1	7783	1683	59	3		3	INTS7	1	212142038	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2178018	212142038	37108583	430	98287											
INTS7	25896	broad.mit.edu	37	chr1	212161324	212161324	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagctgtcataaggagtctGgagggcacactcacaaagtg	12	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:212161324G>A	uc001hiw.1	-	8	1006	c.901C>T	c.(901-903)CAG>TAG	p.Q301*	INTS7_uc009xdb.1_Nonsense_Mutation_p.Q301*|INTS7_uc001hix.1_Nonsense_Mutation_p.Q177*|INTS7_uc001hiy.1_Nonsense_Mutation_p.Q301*|INTS7_uc010pta.1_Nonsense_Mutation_p.Q252*	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	301					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TAAGGAGTCTGGAGGGCACAC	0.388													A	212161324	G	A	212161324	4	1	189	1	0	0	0	0	0	1	0	0	7783	1357	47	4	2039	4	INTS7	1	212161324	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	19286	212161324	37089297	431	98288											
NSL1	25936	broad.mit.edu	37	chr1	212911845	212911845	+	Frame_Shift_Del	DEL	T	T	-													tttcagtaccatgtcagaggTtttcctggaagcagtctctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:212911844_212911844GT>G	uc001hjn.3	-	5	786	c.752_752AC>C	c.(751-753)accfs	p.T251fs	NSL1_uc001hjm.3_3'UTR|NSL1_uc010pti.2_Frame_Shift_Del_p.T210fs	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	251					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CATGTCAGAGGTTTTCCTGGA	0.403													-	212911845	T	-	212911845	7	5	189	1	0	1	0	1	0	0	0	0	10673	1725	60	0	98	0	NSL1	1	212911845	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	750521	212911845	36338776	432	98289											
KCNK2	3776	broad.mit.edu	37	chr1	215345490	215345490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttattttgtggttatcActctaacaactattggattt	5	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:215345490A>G	uc001hkq.2	+	5	956	c.787A>G	c.(787-789)ACT>GCT	p.T263A	KCNK2_uc001hko.2_Missense_Mutation_p.T259A|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.T248A	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	263							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGTGGTTATCACTCTAACAAC	0.408													G	215345490	A	G	215345490	3	3	189	1	0	0	0	0	1	0	0	0	8066	159	6	3	848	3	KCNK2	1	215345490	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2433645	215345490	33905131	433	98290											
USH2A	7399	broad.mit.edu	37	chr1	215802205	215802205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtgagttgtccatcAagactttcttgtcttgaatg	8	10	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:215802205A>G	uc001hku.1	-	71	15857	c.15470T>C	c.(15469-15471)TTG>TCG	p.L5157S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5157	Cytoplasmic (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGTCCATCAAGACTTTCTT	0.498										HNSCC(13;0.011)			G	215802205	A	G	215802205	3	3	189	1	0	0	0	0	1	0	0	0	17033	131	5	3	146	3	USH2A	1	215802205	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	456715	215802205	33448416	434	98291											
USH2A	7399	broad.mit.edu	37	chr1	215953368	215953368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctccggaactccttgggTagtagctgcaactacctgaa	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:215953368T>C	uc001hku.1	-	55	11143	c.10756A>G	c.(10756-10758)ACC>GCC	p.T3586A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3586	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCCTTGGGTAGTAGCTGCA	0.458										HNSCC(13;0.011)			C	215953368	T	C	215953368	3	2	189	1	0	0	0	0	1	0	0	0	17033	1638	57	3	4924	3	USH2A	1	215953368	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	151163	215953368	33297253	435	98292											
USH2A	7399	broad.mit.edu	37	chr1	216405425	216405425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgattaactgcaccagttgTatggcatgagcatggcaggc	13	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:216405425T>C	uc001hku.1	-	14	3250	c.2863A>G	c.(2863-2865)ACA>GCA	p.T955A	USH2A_uc001hkv.2_Missense_Mutation_p.T955A	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	955	Extracellular (Potential).|Laminin EGF-like 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCACCAGTTGTATGGCATGAG	0.408										HNSCC(13;0.011)			C	216405425	T	C	216405425	3	2	189	1	0	0	0	0	1	0	0	0	17033	1638	57	3	12995	3	USH2A	1	216405425	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	452057	216405425	32845196	436	98293											
USH2A	7399	broad.mit.edu	37	chr1	216497021	216497021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaaatgtgacattgccacGggaatatggagtaaaactgt	11	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:216497021G>A	uc001hku.1	-	8	1732	c.1345C>T	c.(1345-1347)CGT>TGT	p.R449C	USH2A_uc001hkv.2_Missense_Mutation_p.R449C	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	449	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATTGCCACGGGAATATGGA	0.348										HNSCC(13;0.011)			A	216497021	G	A	216497021	3	1	189	1	0	0	0	0	1	0	0	0	17033	1116	39	1	14537	1	USH2A	1	216497021	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	91596	216497021	32753600	437	98294											
ESRRG	2104	broad.mit.edu	37	chr1	216850574	216850574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatcttcaacaatggtgcTggagcagtcatcatacagtt	11	8	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:216850574T>C	uc001hkw.1	-	2	482	c.316A>G	c.(316-318)AGC>GGC	p.S106G	ESRRG_uc001hky.1_Missense_Mutation_p.S83G|ESRRG_uc009xdp.1_Missense_Mutation_p.S83G|ESRRG_uc001hkz.1_Missense_Mutation_p.S83G|ESRRG_uc010puc.1_Missense_Mutation_p.S83G|ESRRG_uc001hla.1_Missense_Mutation_p.S83G|ESRRG_uc001hlb.1_Missense_Mutation_p.S83G|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S83G|ESRRG_uc001hld.1_Missense_Mutation_p.S83G|ESRRG_uc001hkx.1_Missense_Mutation_p.S111G|ESRRG_uc009xdo.1_Missense_Mutation_p.S83G|ESRRG_uc001hle.1_Missense_Mutation_p.S83G	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	106					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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACAATGGTGCTGGAGCAGTCA	0.517													C	216850574	T	C	216850574	3	2	189	1	0	0	0	0	1	0	0	0	5262	1580	55	3	1084	3	ESRRG	1	216850574	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	353553	216850574	32400047	438	98295											
GPATCH2	55105	broad.mit.edu	37	chr1	217783709	217783709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatattctttgaagacAttccatgaaggcgactgagt	8	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:217783709A>G	uc001hlf.1	-	5	1148	c.1052T>C	c.(1051-1053)ATG>ACG	p.M351T	GPATCH2_uc001hlg.3_Missense_Mutation_p.M351T	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	351						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTTTGAAGACATTCCATGAAG	0.348													G	217783709	A	G	217783709	3	3	189	1	0	0	0	0	1	0	0	0	6591	217	8	3	558	3	GPATCH2	1	217783709	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	933135	217783709	31466912	439	98296											
TGFB2	7042	broad.mit.edu	37	chr1	218614599	218614599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctgcttctccttgctgCgtgtcccaagatttagaacc	8	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:218614599C>T	uc001hlm.2	+	7	1793	c.1140C>T	c.(1138-1140)TGC>TGT	p.C380C	TGFB2_uc001hln.2_Silent_p.C408C|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	380					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTCCTTGCTGCGTGTCCCAAG	0.408													T	218614599	C	T	218614599	2	4	189	1	0	0	0	0	0	0	0	1	15815	776	27	1		1	TGFB2	1	218614599	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	830890	218614599	30636022	440	98297											
EPRS	2058	broad.mit.edu	37	chr1	220170682	220170682	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttccttaaaaggagcagaGgtctaccaagagagaaaacc	9	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:220170682G>T	uc001hly.1	-	18	2454	c.2184C>A	c.(2182-2184)ACC>ACA	p.T728T	EPRS_uc010puf.1_Silent_p.T479T|EPRS_uc001hlz.1_Silent_p.T735T	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	728	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AAGGAGCAGAGGTCTACCAAG	0.318													T	220170682	G	T	220170682	2	4	189	1	0	0	0	0	0	0	0	1	5191	987	35	5		5	EPRS	1	220170682	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1556083	220170682	29079939	441	98298											
MARK1	4139	broad.mit.edu	37	chr1	220826557	220826557	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcactttccatggtgaAcagctccgggagcgacgcag	13	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:220826557A>G	uc001hmn.3	+	16	2448	c.1851A>G	c.(1849-1851)GAA>GAG	p.E617E	MARK1_uc009xdw.2_Silent_p.E618E|MARK1_uc010pun.1_Silent_p.E617E|MARK1_uc001hmm.3_Silent_p.E595E	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	617					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TCCATGGTGAACAGCTCCGGG	0.567													G	220826557	A	G	220826557	2	3	189	1	0	0	0	0	0	0	0	1	9312	40	2	3		3	MARK1	1	220826557	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	655875	220826557	28424064	442	98299											
TLR5	7100	broad.mit.edu	37	chr1	223285544	223285544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaatgtgttctggtcaGgatctttgatgttatggaag	12	5	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:223285544G>T	uc001hnv.1	-	4	1276	c.830C>A	c.(829-831)CCT>CAT	p.P277H	TLR5_uc001hnw.1_Missense_Mutation_p.P277H	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	277	Extracellular (Potential).				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			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		GTTCTGGTCAGGATCTTTGAT	0.488													T	223285544	G	T	223285544	3	4	189	1	0	0	0	0	1	0	0	0	15951	1000	35	5	1750	5	TLR5	1	223285544	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2458987	223285544	25965077	443	98300											
SUSD4	55061	broad.mit.edu	37	chr1	223437982	223437982	+	Frame_Shift_Del	DEL	A	A	-													gatgtgttaccttccagagcAaggcaccggggtgggctgga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:223437981_223437981CA>C	uc001hnx.3	-	3	1349	c.715_715TG>G	c.(715-717)gctfs	p.A239fs	SUSD4_uc001hny.4_Frame_Shift_Del_p.A239fs|SUSD4_uc010puw.2_Frame_Shift_Del_p.A79fs|SUSD4_uc001hnz.2_Frame_Shift_Del_p.A239fs|SUSD4_uc010pux.1_Frame_Shift_Del_p.A168fs	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	239	Sushi 3.					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)		CCTTCCAGAGCAAGGCACCGG	0.453													-	223437982	A	-	223437982	7	5	189	1	0	1	0	1	0	0	0	0	15407	117	5	0	931	0	SUSD4	1	223437982	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	152438	223437982	25812639	444	98301											
C1orf65	164127	broad.mit.edu	37	chr1	223567614	223567614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccctggtgctgacccGtctcaagaaggcccagagga	14	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:223567614G>A	uc001hoa.2	+	1	900	c.797G>A	c.(796-798)CGT>CAT	p.R266H		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	266	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GTGCTGACCCGTCTCAAGAAG	0.622													A	223567614	G	A	223567614	3	1	189	1	0	0	0	0	1	0	0	0	2055	1145	40	1	799	1	C1orf65	1	223567614	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	129632	223567614	25683007	445	98302											
CNIH3	149111	broad.mit.edu	37	chr1	224804920	224804920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacatgctgtctctggTgctgtgcgctgcgctcatct	11	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:224804920T>C	uc001hos.1	+	1	742	c.44T>C	c.(43-45)GTG>GCG	p.V15A		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	15	Helical; (Potential).				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|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTGTCTCTGGTGCTGTGCGCT	0.572													C	224804920	T	C	224804920	3	2	189	1	0	0	0	0	1	0	0	0	3604	1696	59	3	46	3	CNIH3	1	224804920	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1237306	224804920	24445701	446	98303											
CNIH3	149111	broad.mit.edu	37	chr1	224868721	224868721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagaccagtgcaatcctgTtcatgcggtaagtggcgggt	13	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:224868721T>C	uc001hos.1	+	2	841	c.143T>C	c.(142-144)GTT>GCT	p.V48A		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	48	Lumenal (Potential).				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|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TGCAATCCTGTTCATGCGGTA	0.488													C	224868721	T	C	224868721	3	2	189	1	0	0	0	0	1	0	0	0	3604	1725	60	3	149	3	CNIH3	1	224868721	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	63801	224868721	24381900	447	98304											
CNIH3	149111	broad.mit.edu	37	chr1	224922301	224922301	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagatagctcagaactagcCtacgacccaccggtggtcat	10	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:224922301C>A	uc001hos.1	+	5	1046	c.348C>A	c.(346-348)GCC>GCA	p.A116A		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	116	Cytoplasmic (Potential).				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|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CAGAACTAGCCTACGACCCAC	0.522													A	224922301	C	A	224922301	2	1	189	1	0	0	0	0	0	0	0	1	3604	668	24	5		5	CNIH3	1	224922301	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	53580	224922301	24328320	448	98305											
PARP1	142	broad.mit.edu	37	chr1	226552822	226552822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttaaagggcttgtaacGctggcattcgccttcacgct	10	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:226552822G>A	uc001hqd.3	-	19	2710	c.2539C>T	c.(2539-2541)CGT>TGT	p.R847C		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	847	PARP catalytic.				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			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCTTGTAACGCTGGCATTCG	0.488								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					A	226552822	G	A	226552822	3	1	189	1	0	0	0	0	1	0	0	0	11454	1087	38	1	525	1	PARP1	1	226552822	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1630521	226552822	22697799	449	98306											
CDC42BPA	8476	broad.mit.edu	37	chr1	227216861	227216861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaaaaagtcgtacatgaCgatttcgtcctgagatcaca	9	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:227216861C>T	uc001hqr.2	-	29	4767	c.3824G>A	c.(3823-3825)CGT>CAT	p.R1275H	CDC42BPA_uc001hqq.2_Missense_Mutation_p.R574H|CDC42BPA_uc001hqs.2_Missense_Mutation_p.R1194H|CDC42BPA_uc009xes.2_Missense_Mutation_p.R1247H|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R1255H|CDC42BPA_uc001hqp.2_Missense_Mutation_p.R431H|CDC42BPA_uc001hqt.2_Missense_Mutation_p.R153H|CDC42BPA_uc001hqu.1_Missense_Mutation_p.R482H	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1288	CNH.				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			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCGTACATGACGATTTCGTCC	0.398													T	227216861	C	T	227216861	3	4	189	1	0	0	0	0	1	0	0	0	3072	536	19	1	1367	1	CDC42BPA	1	227216861	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	664039	227216861	22033760	450	98307											
CDC42BPA	8476	broad.mit.edu	37	chr1	227335223	227335223	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaggatttcaggagagAtataatctggagttcctaca	10	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:227335223A>T	uc001hqr.2	-	7	1674	c.731T>A	c.(730-732)ATC>AAC	p.I244N	CDC42BPA_uc001hqs.2_Missense_Mutation_p.I244N|CDC42BPA_uc009xes.2_Missense_Mutation_p.I244N|CDC42BPA_uc010pvs.1_Missense_Mutation_p.I244N	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	244	Protein kinase.				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			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCAGGAGAGATATAATCTGG	0.358													T	227335223	A	T	227335223	3	4	189	1	0	0	0	0	1	0	0	0	3072	333	12	5	4548	5	CDC42BPA	1	227335223	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	118362	227335223	21915398	451	98308											
ZNF678	339500	broad.mit.edu	37	chr1	227842264	227842264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtattgaatgtggcagaAattttagctggaggtcaatc	11	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:227842264A>G	uc001hqw.1	+	4	658	c.313A>G	c.(313-315)AAT>GAT	p.N105D	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	160					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				ATGTGGCAGAAATTTTAGCTG	0.353													G	227842264	A	G	227842264	3	3	189	1	0	0	0	0	1	0	0	0	18082	14	1	3	492	3	ZNF678	1	227842264	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	507041	227842264	21408357	452	98309											
JMJD4	65094	broad.mit.edu	37	chr1	227921375	227921375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagatgtcagcatggaAcggggacctgcggcagcaag	17	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:227921375A>G	uc001hrb.2	-	4	700	c.700T>C	c.(700-702)TTC>CTC	p.F234L	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Missense_Mutation_p.F234L	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	234	JmjC.										0		Prostate(94;0.0885)				TCAGCATGGAACGGGGACCTG	0.622													G	227921375	A	G	227921375	3	3	189	1	0	0	0	0	1	0	0	0	7951	43	2	3	703	3	JMJD4	1	227921375	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	79111	227921375	21329246	453	98310											
WNT3A	89780	broad.mit.edu	37	chr1	228238516	228238516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtggctgtagcgaggAcatcgagtttggtgggatgg	21	4	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:228238516A>G	uc001hrq.1	+	3	551	c.473A>G	c.(472-474)GAC>GGC	p.D158G	WNT3A_uc001hrp.1_Missense_Mutation_p.D158G	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	158					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				TGTAGCGAGGACATCGAGTTT	0.657													G	228238516	A	G	228238516	3	3	189	1	0	0	0	0	1	0	0	0	17386	275	10	3	483	3	WNT3A	1	228238516	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	317141	228238516	21012105	454	98311											
GUK1	2987	broad.mit.edu	37	chr1	228333221	228333221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcacccccaggcatgtcggGccccaggcctgtggtgctga	13	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:228333221G>C	uc001hsh.2	+	3	311	c.8G>C	c.(7-9)GGC>GCC	p.G3A	GUK1_uc001hsi.2_Missense_Mutation_p.G24A|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Missense_Mutation_p.G3A	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	3					nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				GGCATGTCGGGCCCCAGGCCT	0.627													C	228333221	G	C	228333221	3	2	189	1	0	0	0	0	1	0	0	0	6900	1203	42	5	77	5	GUK1	1	228333221	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	94705	228333221	20917400	455	98312											
GJC2	57165	broad.mit.edu	37	chr1	228346175	228346175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtacggcttcgaggTgcgaccgttctttccctgca	11	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:228346175T>C	uc001hsk.2	+	2	891	c.716T>C	c.(715-717)GTG>GCG	p.V239A		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	239	Extracellular (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GGCTTCGAGGTGCGACCGTTC	0.647													C	228346175	T	C	228346175	3	2	189	1	0	0	0	0	1	0	0	0	6415	1696	59	3	718	3	GJC2	1	228346175	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	12954	228346175	20904446	456	98313											
C1orf69	200205	broad.mit.edu	37	chr1	228363092	228363092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggctggccagggcaacGtggggctggccctgctgtgg	19	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:228363092G>A	uc001hsl.3	+	3	1038	c.949G>A	c.(949-951)GTG>ATG	p.V317M	C1orf69_uc010pvw.1_Missense_Mutation_p.V124M	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	317					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				CCAGGGCAACGTGGGGCTGGC	0.632													A	228363092	G	A	228363092	3	1	189	1	0	0	0	0	1	0	0	0	2057	1145	40	1	959	1	C1orf69	1	228363092	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	16917	228363092	20887529	457	98314											
OBSCN	84033	broad.mit.edu	37	chr1	228433238	228433238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgacgtggtacaaggaCgggaagaagctgagctccag	17	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:228433238C>T	uc009xez.1	+	12	3650	c.3606C>T	c.(3604-3606)GAC>GAT	p.D1202D	OBSCN_uc001hsn.2_Silent_p.D1202D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1202	Ig-like 12.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGTACAAGGACGGGAAGAAGC	0.597													T	228433238	C	T	228433238	2	4	189	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228433238	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	70146	228433238	20817383	458	98315											
OBSCN	84033	broad.mit.edu	37	chr1	228456347	228456347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagacagaggtgacgtggTacaaggatgggaagaagctg	16	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:228456347T>C	uc009xez.1	+	17	5022	c.4978T>C	c.(4978-4980)TAC>CAC	p.Y1660H	OBSCN_uc001hsn.2_Missense_Mutation_p.Y1660H|OBSCN_uc001hso.2_Missense_Mutation_p.Y106H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1660	Ig-like 17.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGTGACGTGGTACAAGGATGG	0.677													C	228456347	T	C	228456347	3	2	189	1	0	0	0	0	1	0	0	0	10812	1638	57	3	5040	3	OBSCN	1	228456347	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	23109	228456347	20794274	459	98316											
OBSCN	84033	broad.mit.edu	37	chr1	228509588	228509588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcccgtcggctgcacCggctcttccgcaccaaaagt	12	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:228509588C>T	uc009xez.1	+	55	15090	c.15046C>T	c.(15046-15048)CGG>TGG	p.R5016W	OBSCN_uc001hsn.2_Missense_Mutation_p.R5016W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5016					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCGGCTGCACCGGCTCTTCCG	0.647													T	228509588	C	T	228509588	3	4	189	1	0	0	0	0	1	0	0	0	10812	643	23	1	15260	1	OBSCN	1	228509588	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	53241	228509588	20741033	460	98317											
TTC13	79573	broad.mit.edu	37	chr1	231064815	231064815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaaggggggtatcaaggTgtgcatgaagatatcgagaa	15	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:231064815T>C	uc001huf.3	-	12	1356	c.1325A>G	c.(1324-1326)CAC>CGC	p.H442R	TTC13_uc009xfi.2_Missense_Mutation_p.H389R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.H389R|TTC13_uc009xfk.1_Missense_Mutation_p.H332R	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	442							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GGTATCAAGGTGTGCATGAAG	0.408													C	231064815	T	C	231064815	3	2	189	1	0	0	0	0	1	0	0	0	16677	1696	59	3	1305	3	TTC13	1	231064815	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2555227	231064815	18185806	461	98318											
C1orf124	83932	broad.mit.edu	37	chr1	231487299	231487299	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactaggaaaggaaccagtaTtggccgcagagaataaaggt	12	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:231487299T>G	uc001hur.2	+	4	1148	c.700T>G	c.(700-702)TTG>GTG	p.L234V	C1orf124_uc001hus.2_Missense_Mutation_p.L234V|C1orf124_uc001hut.2_Missense_Mutation_p.L191V	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	234					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGAACCAGTATTGGCCGCAGA	0.388													G	231487299	T	G	231487299	3	3	189	1	0	0	0	0	1	0	0	0	1992	1490	52	5	714	5	C1orf124	1	231487299	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	422484	231487299	17763322	462	98319											
TSNAX	7257	broad.mit.edu	37	chr1	231673007	231673007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaatatgagagacttgTgaaacttagtcgggatataa	10	4	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:231673007T>C	uc001huw.2	+	3	328	c.170T>C	c.(169-171)GTG>GCG	p.V57A	TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_5'UTR|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_RNA	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	translin-associated factor X	57					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding				0		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				GAGAGACTTGTGAAACTTAGT	0.343													C	231673007	T	C	231673007	3	2	189	1	0	0	0	0	1	0	0	0	16628	1696	59	3	180	3	TSNAX	1	231673007	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	185708	231673007	17577614	463	98320											
SIPA1L2	57568	broad.mit.edu	37	chr1	232538136	232538136	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgctcttccaattgattAccttccgaaggtcggtctgg	9	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:232538136A>G	uc001hvg.2	-	20	5180	c.5022_splice	c.e20+1	p.K1674_splice	SIPA1L2_uc001hvf.2_Splice_Site_p.K730_splice	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCAATTGATTACCTTCCGAAG	0.408													G	232538136	A	G	232538136	5	3	189	1	0	0	0	0	0	0	1	0	14330	405	14	3	152	3	SIPA1L2	1	232538136	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	865129	232538136	16712485	464	98321											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650649	232650649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctttggggggaatggAcaaagatgtctccgattgtg	14	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:232650649A>G	uc001hvg.2	-	1	595	c.437T>C	c.(436-438)GTC>GCC	p.V146A		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	146					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGGGGAATGGACAAAGATGTC	0.488													G	232650649	A	G	232650649	3	3	189	1	0	0	0	0	1	0	0	0	14330	275	10	3	4815	3	SIPA1L2	1	232650649	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	112513	232650649	16599972	465	98322											
PCNXL2	80003	broad.mit.edu	37	chr1	233394715	233394715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgacttgctttgtaccCgttcccttatggagccccgg	12	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:233394715C>T	uc001hvl.2	-	5	1128	c.893G>A	c.(892-894)CGG>CAG	p.R298Q	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	298						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTTTGTACCCGTTCCCTTAT	0.552													T	233394715	C	T	233394715	3	4	189	1	0	0	0	0	1	0	0	0	11592	652	23	1	5640	1	PCNXL2	1	233394715	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	744066	233394715	15855906	466	98323											
TARBP1	6894	broad.mit.edu	37	chr1	234563331	234563331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttttacctttgatcaCgcctaaacacagttccaaat	4	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:234563331C>T	uc001hwd.2	-	18	3242	c.3242G>A	c.(3241-3243)CGT>CAT	p.R1081H		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1081					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	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)			CCTTTGATCACGCCTAAACAC	0.343													T	234563331	C	T	234563331	3	4	189	1	0	0	0	0	1	0	0	0	15552	536	19	1	1675	1	TARBP1	1	234563331	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1168616	234563331	14687290	467	98324											
TARBP1	6894	broad.mit.edu	37	chr1	234565023	234565023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagatataattttccaCgccatgtcaaaagactctat	5	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:234565023C>T	uc001hwd.2	-	17	2919	c.2919G>A	c.(2917-2919)GCG>GCA	p.A973A		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	973					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	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)			TAATTTTCCACGCCATGTCAA	0.343													T	234565023	C	T	234565023	2	4	189	1	0	0	0	0	0	0	0	1	15552	523	19	1		1	TARBP1	1	234565023	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1692	234565023	14685598	468	98325											
RBM34	23029	broad.mit.edu	37	chr1	235324296	235324296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgccacctctggaatggTgttcgccgcgaaataagcta	12	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:235324296T>C	uc001hwn.2	-	2	170	c.140A>G	c.(139-141)CAC>CGC	p.H47R	RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.H47R	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	47						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)			TCTGGAATGGTGTTCGCCGCG	0.582													C	235324296	T	C	235324296	3	2	189	1	0	0	0	0	1	0	0	0	13131	1696	59	3	1213	3	RBM34	1	235324296	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	759273	235324296	13926325	469	98326											
B3GALNT2	148789	broad.mit.edu	37	chr1	235658060	235658060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatcacgtttcgaagttcaTggttattgcgagctgacaac	9	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:235658060T>C	uc001hxc.2	-	2	420	c.191A>G	c.(190-192)CAT>CGT	p.H64R	B3GALNT2_uc001hxd.1_Missense_Mutation_p.H105R	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	64	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TCGAAGTTCATGGTTATTGCG	0.428													C	235658060	T	C	235658060	3	2	189	1	0	0	0	0	1	0	0	0	1246	1464	51	3	1355	3	B3GALNT2	1	235658060	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	333764	235658060	13592561	470	98327											
LYST	1130	broad.mit.edu	37	chr1	235827885	235827885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtccaacgagatccccgTtcaccgtccagagtctgagg	10	14	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:235827885T>C	uc001hxj.2	-	51	11250	c.11075A>G	c.(11074-11076)AAC>AGC	p.N3692S	LYST_uc001hxi.2_Missense_Mutation_p.N916S	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3692	WD 5.				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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GAGATCCCCGTTCACCGTCCA	0.552									Chediak-Higashi_syndrome				C	235827885	T	C	235827885	3	2	189	1	0	0	0	0	1	0	0	0	9128	1725	60	3	342	3	LYST	1	235827885	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	169825	235827885	13422736	471	98328											
LYST	1130	broad.mit.edu	37	chr1	235896835	235896835	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgaataagttcctgCcaatgtctgctggcactcaa	9	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:235896835C>T	uc001hxj.2	-	34	8944	c.8769G>A	c.(8767-8769)TGG>TGA	p.W2923*	LYST_uc001hxi.2_Nonsense_Mutation_p.W147*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2923					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			TAAGTTCCTGCCAATGTCTGC	0.408									Chediak-Higashi_syndrome				T	235896835	C	T	235896835	4	4	189	1	0	0	0	0	0	1	0	0	9128	740	26	2	2716	2	LYST	1	235896835	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	68950	235896835	13353786	472	98329											
LYST	1130	broad.mit.edu	37	chr1	235922883	235922883	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatctgttgtggaataatAttagaggaattctctcctgg	10	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:235922883A>G	uc001hxj.2	-	23	6445	c.6270T>C	c.(6268-6270)AAT>AAC	p.N2090N	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2090					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GTGGAATAATATTAGAGGAAT	0.378									Chediak-Higashi_syndrome				G	235922883	A	G	235922883	2	3	189	1	0	0	0	0	0	0	0	1	9128	446	16	3		3	LYST	1	235922883	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26048	235922883	13327738	473	98330											
NID1	4811	broad.mit.edu	37	chr1	236148697	236148697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgtctaatgatggtggTtggctctccaccatgtagac	10	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:236148697T>C	uc001hxo.2	-	15	3139	c.3037A>G	c.(3037-3039)ACC>GCC	p.T1013A	NID1_uc009xgd.2_Missense_Mutation_p.T880A|NID1_uc009xgc.2_Missense_Mutation_p.T99A	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1013	LDL-receptor class B 1.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	ATGATGGTGGTTGGCTCTCCA	0.458													C	236148697	T	C	236148697	3	2	189	1	0	0	0	0	1	0	0	0	10414	1725	60	3	730	3	NID1	1	236148697	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	225814	236148697	13101924	474	98331											
ACTN2	88	broad.mit.edu	37	chr1	236914881	236914881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgattcagagctacAacatcagaatcagctcaagc	9	9	4	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:236914881A>G	uc001hyf.2	+	15	1972	c.1768A>G	c.(1768-1770)AAC>GAC	p.N590D	ACTN2_uc001hyg.2_Missense_Mutation_p.N382D|ACTN2_uc009xgi.1_Missense_Mutation_p.N590D|ACTN2_uc010pxu.1_Missense_Mutation_p.N279D|ACTN2_uc001hyh.2_Missense_Mutation_p.N278D	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	590	Spectrin 3.				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			ovary(4)|skin(1)	5	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)			TCAGAGCTACAACATCAGAAT	0.597													G	236914881	A	G	236914881	3	3	189	1	0	0	0	0	1	0	0	0	205	130	5	3	1826	3	ACTN2	1	236914881	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	766184	236914881	12335740	475	98332											
MTR	4548	broad.mit.edu	37	chr1	236995292	236995292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccttcaggattggaccgTacaccaactttgttaacatt	7	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:236995292T>C	uc001hyi.3	+	13	1525	c.1102T>C	c.(1102-1104)TAC>CAC	p.Y368H	MTR_uc010pxw.1_Intron|MTR_uc010pxx.1_Missense_Mutation_p.Y368H|MTR_uc010pxy.1_Missense_Mutation_p.Y368H	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	368					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	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)	GATTGGACCGTACACCAACTT	0.398													C	236995292	T	C	236995292	3	2	189	1	0	0	0	0	1	0	0	0	9958	1638	57	3	1152	3	MTR	1	236995292	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	80411	236995292	12255329	476	98333											
MTR	4548	broad.mit.edu	37	chr1	237016301	237016301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctccctgtgtatgatgaTatccataaggaacttctgca	7	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:237016301T>C	uc001hyi.3	+	18	2289	c.1866T>C	c.(1864-1866)GAT>GAC	p.D622D	MTR_uc010pxw.1_Silent_p.D215D|MTR_uc010pxx.1_Silent_p.D622D|MTR_uc010pxy.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	622	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	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)	TGTATGATGATATCCATAAGG	0.433													C	237016301	T	C	237016301	2	2	189	1	0	0	0	0	0	0	0	1	9958	1403	49	3		3	MTR	1	237016301	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	21009	237016301	12234320	477	98334											
RYR2	6262	broad.mit.edu	37	chr1	237838135	237838135	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagcccatcagtataTcctggagtttggtaggtacc	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:237838135T>A	uc001hyl.1	+	60	8939	c.8819T>A	c.(8818-8820)ATC>AAC	p.I2940N	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2940	Modulator (Potential).|Cytoplasmic (By similarity).				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CATCAGTATATCCTGGAGTTT	0.418													A	237838135	T	A	237838135	3	1	189	1	0	0	0	0	1	0	0	0	13769	1435	50	5	9057	5	RYR2	1	237838135	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	821834	237838135	11412486	478	98335											
CHRM3	1131	broad.mit.edu	37	chr1	240071898	240071898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctcaactccaccaagTtaccctcatcggacaacctg	4	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:240071898T>C	uc001hyp.2	+	5	1926	c.1147T>C	c.(1147-1149)TTA>CTA	p.L383L		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	383	Cytoplasmic (By similarity).			KLP -> RLS (in Ref. 7; AAG30036).	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			ovary(4)|skin(1)	5	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)	CTCCACCAAGTTACCCTCATC	0.602													C	240071898	T	C	240071898	2	2	189	1	0	0	0	0	0	0	0	1	3378	1722	60	3		3	CHRM3	1	240071898	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2233763	240071898	9178723	479	98336											
FMN2	56776	broad.mit.edu	37	chr1	240286491	240286491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgcagggcgaacgctgtTggagaagctgttcagccagc	14	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:240286491T>C	uc010pyd.1	+	2	1853	c.1628T>C	c.(1627-1629)TTG>TCG	p.L543S	FMN2_uc010pye.1_Missense_Mutation_p.L543S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	543					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGAACGCTGTTGGAGAAGCTG	0.547													C	240286491	T	C	240286491	3	2	189	1	0	0	0	0	1	0	0	0	5950	1821	63	3	1634	3	FMN2	1	240286491	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	214593	240286491	8964130	480	98337											
RGS7	6000	broad.mit.edu	37	chr1	240966228	240966228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgcctgtagaagctcCtgataggcactggatcttat	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:240966228C>T	uc001hyv.2	-	16	1665	c.1335G>A	c.(1333-1335)CAG>CAA	p.Q445Q	RGS7_uc010pyh.1_Silent_p.Q419Q|RGS7_uc010pyj.1_Silent_p.Q361Q|RGS7_uc001hyu.2_Silent_p.Q445Q|RGS7_uc009xgn.1_Silent_p.Q392Q|RGS7_uc001hyw.2_Silent_p.Q445Q|RGS7_uc001hyt.2_Silent_p.Q277Q	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	445	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			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTAGAAGCTCCTGATAGGCAC	0.358													T	240966228	C	T	240966228	2	4	189	1	0	0	0	0	0	0	0	1	13310	680	24	4		4	RGS7	1	240966228	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	679737	240966228	8284393	481	98338											
PLD5	200150	broad.mit.edu	37	chr1	242511481	242511481	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccacggctgaaaagaTcagtgcaaccagaatggcaa	11	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:242511481T>A	uc001hzn.1	-	2	380	c.253A>T	c.(253-255)ATC>TTC	p.I85F	PLD5_uc001hzl.3_Missense_Mutation_p.I23F|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_5'UTR			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	85	Helical; (Potential).					integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCTGAAAAGATCAGTGCAACC	0.428													A	242511481	T	A	242511481	3	1	189	1	0	0	0	0	1	0	0	0	12049	1450	50	5		5	PLD5	1	242511481	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1545253	242511481	6739140	482	98339											
ZNF238	10472	broad.mit.edu	37	chr1	244218042	244218042	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacagtatgagccggcccaTctggctcccctgagggagga	14	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:244218042T>A	uc001iae.2	+	1	1461	c.939T>A	c.(937-939)CAT>CAA	p.H313Q	ZNF238_uc001iad.3_Missense_Mutation_p.H322Q|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	313	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			AGCCGGCCCATCTGGCTCCCC	0.532													A	244218042	T	A	244218042	3	1	189	1	0	0	0	0	1	0	0	0	17787	1432	50	5	972	5	ZNF238	1	244218042	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1706561	244218042	5032579	483	98340											
KIF26B	55083	broad.mit.edu	37	chr1	245849706	245849706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttttgaaaaaatccatgTctgctgggagcgaagggttc	13	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:245849706T>C	uc001ibf.1	+	12	3861	c.3421T>C	c.(3421-3423)TCT>CCT	p.S1141P	KIF26B_uc001ibg.1_Missense_Mutation_p.S759P|KIF26B_uc001ibh.1_Missense_Mutation_p.S383P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1141					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			AAAATCCATGTCTGCTGGGAG	0.582													C	245849706	T	C	245849706	3	2	189	1	0	0	0	0	1	0	0	0	8295	1667	58	3	3467	3	KIF26B	1	245849706	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1631664	245849706	3400915	484	98341											
AHCTF1	25909	broad.mit.edu	37	chr1	247013668	247013668	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcaacactttcctgattTtctacagatcttttaattct	2	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:247013668T>C	uc001ibu.1	-	32	5647	c.5640A>G	c.(5638-5640)GAA>GAG	p.E1880E	AHCTF1_uc001ibv.1_Silent_p.E1889E|AHCTF1_uc009xgs.1_Silent_p.E741E|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1880	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			ovary(5)|skin(2)	7	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)			TTTCCTGATTTTCTACAGATC	0.323													C	247013668	T	C	247013668	2	2	189	1	0	0	0	0	0	0	0	1	408	1838	64	3		3	AHCTF1	1	247013668	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1163962	247013668	2236953	485	98342											
AHCTF1	25909	broad.mit.edu	37	chr1	247051505	247051505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttggctgcttcagtaaCgccgtctaataggtacatat	10	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:247051505C>T	uc001ibu.1	-	18	2306	c.2299G>A	c.(2299-2301)GTT>ATT	p.V767I	AHCTF1_uc001ibv.1_Missense_Mutation_p.V776I|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	767	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			ovary(5)|skin(2)	7	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)			GCTTCAGTAACGCCGTCTAAT	0.328													T	247051505	C	T	247051505	3	4	189	1	0	0	0	0	1	0	0	0	408	536	19	1	4573	1	AHCTF1	1	247051505	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	37837	247051505	2199116	486	98343											
AHCTF1	25909	broad.mit.edu	37	chr1	247062817	247062817	+	Splice_Site	DEL	A	A	-													ttaacaaacaagtggcatctAaaaaaaagatttaaaaaata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:247062816_247062816TA>T	uc001ibv.2	-	11	1557	c.1460_splice	c.e11-1	p.D487_splice	AHCTF1_uc009xgs.1_Splice_Site	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	478	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|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)			AAGTGGCATCTAAAAAAAAGA	0.308													-	247062817	A	-	247062817	8	5	189	1	0	1	0	1	0	0	1	0	408	377	13	0		0	AHCTF1	1	247062817	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	11312	247062817	2187804	487	98344											
ZNF695	57116	broad.mit.edu	37	chr1	247150946	247150946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtatggtttctctccagTatgaattttcttatgtttag	7	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:247150946T>C	uc009xgu.2	-	4	1016	c.871A>G	c.(871-873)ACT>GCT	p.T291A	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	291					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	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;0.00271)			TTCTCTCCAGTATGAATTTTC	0.348													C	247150946	T	C	247150946	3	2	189	1	0	0	0	0	1	0	0	0	18095	1638	57	3	680	3	ZNF695	1	247150946	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	88129	247150946	2099675	488	98345											
ZNF124	7678	broad.mit.edu	37	chr1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-													gggcttttctccagtatgagTttttttatgcttccaaaggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:247319908_247319908GT>G	uc001ick.3	-	3	1155	c.1016_1016AC>C	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					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)			TCCAGTATGAGTTTTTTTATG	0.368													-	247319909	T	-	247319909	7	5	189	1	0	1	0	1	0	0	0	0	17717	1725	60	0	44	0	ZNF124	1	247319909	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	168963	247319909	1930712	489	98346											
VN1R5	317705	broad.mit.edu	37	chr1	247420160	247420160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgtccccgagtctcaCcagtgaaaagagcctcccag	9	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:247420160C>T	uc010pyu.1	+	2	787	c.787C>T	c.(787-789)CCA>TCA	p.P263S		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	263	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CCGAGTCTCACCAGTGAAAAG	0.473													T	247420160	C	T	247420160	3	4	189	1	0	0	0	0	1	0	0	0	17178	507	18	4	789	4	VN1R5	1	247420160	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	100251	247420160	1830461	490	98347											
OR11L1	391189	broad.mit.edu	37	chr1	248005113	248005113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagatgagcaggaaaatgAcaaagagcagggcctgccat	13	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:248005113A>G	uc001idn.1	-	1	86	c.86T>C	c.(85-87)GTC>GCC	p.V29A		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	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)			CAGGAAAATGACAAAGAGCAG	0.507													G	248005113	A	G	248005113	3	3	189	1	0	0	0	0	1	0	0	0	10930	275	10	3	886	3	OR11L1	1	248005113	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	584953	248005113	1245508	491	98348											
OR2L8	391190	broad.mit.edu	37	chr1	248112616	248112616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggatcataggctcgAtcaatgcttgtgctcacact	10	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:248112616A>C	uc001idt.1	+	1	457	c.457A>C	c.(457-459)ATC>CTC	p.I153L	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			CATAGGCTCGATCAATGCTTG	0.443													C	248112616	A	C	248112616	3	2	189	1	0	0	0	0	1	0	0	0	11009	333	12	5	459	5	OR2L8	1	248112616	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	107503	248112616	1138005	492	98349											
OR2L2	26246	broad.mit.edu	37	chr1	248201952	248201952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtggccatttgctttcCtctccactatcccatccgta	5	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:248201952C>A	uc001idw.2	+	1	479	c.383C>A	c.(382-384)CCT>CAT	p.P128H	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			ATTTGCTTTCCTCTCCACTAT	0.398													A	248201952	C	A	248201952	3	1	189	1	0	0	0	0	1	0	0	0	11007	681	24	5	385	5	OR2L2	1	248201952	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	89336	248201952	1048669	493	98350											
OR2L13	284521	broad.mit.edu	37	chr1	248263216	248263216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatttcttctgcgatgTcccagccatgttgcttcttg	8	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:248263216T>A	uc001ids.2	+	3	876	c.539T>A	c.(538-540)GTC>GAC	p.V180D		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	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)			TTCTGCGATGTCCCAGCCATG	0.458													A	248263216	T	A	248263216	3	1	189	1	0	0	0	0	1	0	0	0	11006	1667	58	5	541	5	OR2L13	1	248263216	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	61264	248263216	987405	494	98351											
OR2T2	401992	broad.mit.edu	37	chr1	248616758	248616758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatctctgtctcctacacGcacatcctcctgactgtcca	5	17	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:248616758G>A	uc001iek.1	+	1	660	c.660G>A	c.(658-660)ACG>ACA	p.T220T		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	220	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			TCTCCTACACGCACATCCTCC	0.527													A	248616758	G	A	248616758	2	1	189	1	0	0	0	0	0	0	0	1	11020	1074	38	1		1	OR2T2	1	248616758	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	353542	248616758	633863	495	98352											
OR2G6	391211	broad.mit.edu	37	chr1	248685072	248685072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttgagccttctggggaAcactgccctcatactagtat	9	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:248685072A>G	uc001ien.1	+	1	125	c.125A>G	c.(124-126)AAC>AGC	p.N42S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			CTTCTGGGGAACACTGCCCTC	0.468													G	248685072	A	G	248685072	3	3	189	1	0	0	0	0	1	0	0	0	11000	43	2	3	127	3	OR2G6	1	248685072	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	68314	248685072	565549	496	98353											
OR2T10	127069	broad.mit.edu	37	chr1	248756250	248756250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgtagaaaaaggatgAcatcatatctttctcaggag	10	5	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr1:248756250A>G	uc010pzn.1	-	1	820	c.820T>C	c.(820-822)TCA>CCA	p.S274P		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			AAAAAGGATGACATCATATCT	0.428													G	248756250	A	G	248756250	3	3	189	1	0	0	0	0	1	0	0	0	11017	275	10	3	121	3	OR2T10	1	248756250	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	71178	248756250	494371	497	98354											
ACP1	52	broad.mit.edu	37	chr2	271876	271876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaggtaacatttgTcgatcacccattgcagaagc	7	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:271876T>C	uc002qwg.2	+	2	150	c.54T>C	c.(52-54)TGT>TGC	p.C18C	ACP1_uc002qwd.2_Silent_p.C18C|ACP1_uc002qwe.3_RNA|ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Silent_p.C18C	NM_007099	NP_009030	P24666	PPAC_HUMAN	acid phosphatase 1, soluble isoform b	18				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).		cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			skin(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GTAACATTTGTCGATCACCCA	0.453													C	271876	T	C	271876	2	2	189	1	0	0	0	0	0	0	0	1	162	1673	58	3		3	ACP1	2	271876	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08		271876	242927497	498	98355											
SNTG2	54221	broad.mit.edu	37	chr2	1271265	1271265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagagccatgttttcaaCgtggagcttggcagcgagct	15	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:1271265C>T	uc002qwq.2	+	14	1334	c.1206C>T	c.(1204-1206)AAC>AAT	p.N402N	SNTG2_uc010ewi.2_Silent_p.N275N	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	402	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	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)		ATGTTTTCAACGTGGAGCTTG	0.512													T	1271265	C	T	1271265	2	4	189	1	0	0	0	0	0	0	0	1	14875	535	19	1		1	SNTG2	2	1271265	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	999389	1271265	241928108	499	98356											
PXDN	7837	broad.mit.edu	37	chr2	1652950	1652950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccccgctcctggcccGggagtcattgggggggatca	18	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:1652950G>A	uc002qxa.2	-	17	2666	c.2602C>T	c.(2602-2604)CGG>TGG	p.R868W		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	868					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			pancreas(6)|ovary(2)	8	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)		CTCCTGGCCCGGGAGTCATTG	0.662													A	1652950	G	A	1652950	3	1	189	1	0	0	0	0	1	0	0	0	12847	1115	39	1	1865	1	PXDN	2	1652950	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	381685	1652950	241546423	500	98357											
RNF144A	9781	broad.mit.edu	37	chr2	7170296	7170296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacgataagggaccctgcCggaacaagctgggccactcc	11	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:7170296C>T	uc002qys.2	+	8	1139	c.697C>T	c.(697-699)CGG>TGG	p.R233W	RNF144A_uc002qyt.2_Missense_Mutation_p.R82W	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	233						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GGGACCCTGCCGGAACAAGCT	0.522													T	7170296	C	T	7170296	3	4	189	1	0	0	0	0	1	0	0	0	13445	643	23	1	719	1	RNF144A	2	7170296	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5517346	7170296	236029077	501	98358											
KIDINS220	57498	broad.mit.edu	37	chr2	8871241	8871241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaacaaatggacatcCgagctataattggatcttgc	8	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:8871241C>T	uc002qzc.2	-	30	5107	c.4925G>A	c.(4924-4926)CGG>CAG	p.R1642Q	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.R1543Q|KIDINS220_uc002qzb.2_Missense_Mutation_p.R496Q	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1642	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATGGACATCCGAGCTATAAT	0.493													T	8871241	C	T	8871241	3	4	189	1	0	0	0	0	1	0	0	0	8271	652	23	1	394	1	KIDINS220	2	8871241	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1700945	8871241	234328132	502	98359											
KIDINS220	57498	broad.mit.edu	37	chr2	8871508	8871508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgttctggagacttcGgcactctctctactttccct	7	14	3	1	rs76169344	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:8871508G>A	uc002qzc.2	-	30	4840	c.4658C>T	c.(4657-4659)CCG>CTG	p.P1553L	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.P1454L|KIDINS220_uc002qzb.2_Missense_Mutation_p.P407L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1553	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGAGACTTCGGCACTCTCTC	0.453													A	8871508	G	A	8871508	3	1	189	1	0	0	0	0	1	0	0	0	8271	1116	39	1	661	1	KIDINS220	2	8871508	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	267	8871508	234327865	503	98360											
KIDINS220	57498	broad.mit.edu	37	chr2	8871749	8871749	+	Frame_Shift_Del	DEL	G	G	-													ttcttcagtgataggatccaGgggggaagcatcgttggtgg					rs34141362		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:8871748_8871748AG>A	uc002qzc.2	-	29	4600	c.4418_4418CT>T	c.(4417-4419)ctgfs	p.L1473fs	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.L1374fs|KIDINS220_uc002qzb.2_Frame_Shift_Del_p.L327fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1473					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)					GATAGGATCCAGGGGGGAAGC	0.468													-	8871749	G	-	8871749	7	5	189	1	0	1	0	1	0	0	0	0	8271	991	35	0	902	0	KIDINS220	2	8871749	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	241	8871749	234327624	504	98361											
KIDINS220	57498	broad.mit.edu	37	chr2	8926140	8926140	+	Frame_Shift_Del	DEL	T	T	-													aaaagatgggagacaacatgTttttttccatttctttttac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:8926139_8926139GT>G	uc002qzc.2	-	16	2143	c.1961_1961AC>C	c.(1960-1962)acafs	p.T654fs	KIDINS220_uc010yiv.1_Frame_Shift_Del_p.T420fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.T612fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.T655fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	654	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)					GAGACAACATGTTTTTTTCCA	0.318													-	8926140	T	-	8926140	7	5	189	1	0	1	0	1	0	0	0	0	8271	1725	60	0	3411	0	KIDINS220	2	8926140	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	54391	8926140	234273233	505	98362											
KIDINS220	57498	broad.mit.edu	37	chr2	8967216	8967216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgctctgtgatatcaaaActgacattttcacagaaagc	7	9	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:8967216A>G	uc002qzc.2	-	2	190	c.8T>C	c.(7-9)GTT>GCT	p.V3A	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_5'UTR|KIDINS220_uc010yiw.1_Missense_Mutation_p.V3A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	3	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATATCAAAACTGACATTTT	0.284													G	8967216	A	G	8967216	3	3	189	1	0	0	0	0	1	0	0	0	8271	43	2	3	5423	3	KIDINS220	2	8967216	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	41076	8967216	234232157	506	98363											
ADAM17	6868	broad.mit.edu	37	chr2	9630364	9630364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagtttaaaggaggcaGccttttcacttctggtgacc	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:9630364G>A	uc002qzu.2	-	19	2600	c.2417C>T	c.(2416-2418)GCT>GTT	p.A806V	IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Missense_Mutation_p.A789V|ADAM17_uc010ewz.2_Missense_Mutation_p.A149V	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	806	Cytoplasmic (Potential).				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AAAGGAGGCAGCCTTTTCACT	0.463													A	9630364	G	A	9630364	3	1	189	1	0	0	0	0	1	0	0	0	238	971	34	2	61	2	ADAM17	2	9630364	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	663148	9630364	233569009	507	98364											
YWHAQ	10971	broad.mit.edu	37	chr2	9727550	9727550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacaactcactgttaggTtgtctctaagcaactgcatg	8	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:9727550T>C	uc002qzw.2	-	4	835	c.671A>G	c.(670-672)AAC>AGC	p.N224S	YWHAQ_uc002qzx.2_Missense_Mutation_p.N224S	NM_006826	NP_006817	P27348	1433T_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	224					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CACTGTTAGGTTGTCTCTAAG	0.328													C	9727550	T	C	9727550	3	2	189	1	0	0	0	0	1	0	0	0	17502	1725	60	3	74	3	YWHAQ	2	9727550	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	97186	9727550	233471823	508	98365											
RRM2	6241	broad.mit.edu	37	chr2	10269216	10269216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcattgggatgaattgcActctaatgaagcaatacatt	8	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:10269216A>G	uc002rah.2	+	9	1143	c.952A>G	c.(952-954)ACT>GCT	p.T318A		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	318					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GATGAATTGCACTCTAATGAA	0.403													G	10269216	A	G	10269216	3	3	189	1	0	0	0	0	1	0	0	0	13682	159	6	3	1166	3	RRM2	2	10269216	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	541666	10269216	232930157	509	98366											
NOL10	79954	broad.mit.edu	37	chr2	10822127	10822127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactgtccatcttttgAcaccttaatagtggtacaca	6	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:10822127A>G	uc002raq.2	-	3	306	c.181T>C	c.(181-183)TCA>CCA	p.S61P	NOL10_uc010yje.1_Missense_Mutation_p.S61P|NOL10_uc010yjf.1_Missense_Mutation_p.S11P|NOL10_uc002rap.2_Missense_Mutation_p.S61P|NOL10_uc002rar.2_5'UTR	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	61	WD 1.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CCATCTTTTGACACCTTAATA	0.358													G	10822127	A	G	10822127	3	3	189	1	0	0	0	0	1	0	0	0	10520	275	10	3	1961	3	NOL10	2	10822127	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	552911	10822127	232377246	510	98367											
PQLC3	130814	broad.mit.edu	37	chr2	11312126	11312126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacgagagactcaggaActgtgagtgcgctgacttgg	16	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:11312126A>G	uc002rbc.2	+	5	563	c.430A>G	c.(430-432)ACT>GCT	p.T144A	PQLC3_uc010yjk.1_Missense_Mutation_p.T144A	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	144						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGACTCAGGAACTGTGAGTGC	0.493													G	11312126	A	G	11312126	3	3	189	1	0	0	0	0	1	0	0	0	12420	43	2	3	448	3	PQLC3	2	11312126	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	489999	11312126	231887247	511	98368											
NBAS	51594	broad.mit.edu	37	chr2	15358989	15358989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaggtgaaatgattgccCcaaaatctgcagcacgtgaa	10	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:15358989C>T	uc002rcc.1	-	48	6366	c.6340G>A	c.(6340-6342)GGG>AGG	p.G2114R	NBAS_uc002rcb.1_Intron|NBAS_uc010exl.1_Missense_Mutation_p.G1186R|NBAS_uc002rcd.1_Intron	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2114										ovary(2)|liver(1)|skin(1)	4						AATGATTGCCCCAAAATCTGC	0.577													T	15358989	C	T	15358989	3	4	189	1	0	0	0	0	1	0	0	0	10186	623	22	4	795	4	NBAS	2	15358989	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4046863	15358989	227840384	512	98369											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-													aatgttttccgcttctacagTttttttatcattctgtaact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:17698736_17698736GT>G	uc002rcl.1	-	0	971	c.947_947AC>C	c.(946-948)actfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATC	0.328													-	17698737	T	-	17698737	7	5	189	1	0	1	0	1	0	0	0	0	12987	1725	60	0	2545	0	RAD51AP2	2	17698737	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2339748	17698737	225500636	513	98370											
SMC6	79677	broad.mit.edu	37	chr2	17896257	17896257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgattatggcaacaaTaggcctgcagaagccctttt	9	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:17896257T>C	uc002rco.2	-	16	1897	c.1601A>G	c.(1600-1602)TAT>TGT	p.Y534C	SMC6_uc010exo.2_Missense_Mutation_p.Y534C|SMC6_uc002rcn.2_Missense_Mutation_p.Y534C|SMC6_uc002rcp.1_Missense_Mutation_p.Y560C|SMC6_uc002rcq.2_Missense_Mutation_p.Y560C	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	534	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATGGCAACAATAGGCCTGCAG	0.428													C	17896257	T	C	17896257	3	2	189	1	0	0	0	0	1	0	0	0	14787	1406	49	3	1726	3	SMC6	2	17896257	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	197520	17896257	225303116	514	98371											
GEN1	348654	broad.mit.edu	37	chr2	17941334	17941334	+	Frame_Shift_Del	DEL	A	A	-													tgtgtgaggcacagacagtcAaaaaaatgatgggcagcgtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:17941333_17941333CA>C	uc002rct.2	+	1	196	c.123_123CA>C	c.(121-123)gtcfs	p.V41fs	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Frame_Shift_Del_p.V41fs|GEN1_uc002rcu.2_Frame_Shift_Del_p.V41fs	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	41	N-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACAGACAGTCAAAAAAATGA	0.418								Homologous recombination					-	17941334	A	-	17941334	7	5	189	1	0	1	0	1	0	0	0	0	6335	131	5	0	126	0	GEN1	2	17941334	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	45077	17941334	225258039	515	98372											
RHOB	388	broad.mit.edu	37	chr2	20647623	20647623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtccgcacagagctggccCgcatgaagcaggaacccgtg	13	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:20647623C>A	uc002rdv.2	+	1	789	c.397C>A	c.(397-399)CGC>AGC	p.R133S		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	133					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		AGAGCTGGCCCGCATGAAGCA	0.622													A	20647623	C	A	20647623	3	1	189	1	0	0	0	0	1	0	0	0	13332	652	23	5	399	5	RHOB	2	20647623	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2706289	20647623	222551750	516	98373											
APOB	338	broad.mit.edu	37	chr2	21242613	21242613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgtccccggtcagcGgatagtaggaggcggagtct	16	10	2	0	rs41288783	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:21242613G>A	uc002red.2	-	19	3109	c.2981C>T	c.(2980-2982)CCG>CTG	p.P994L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	994					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCGGTCAGCGGATAGTAGGA	0.542													A	21242613	G	A	21242613	3	1	189	1	0	0	0	0	1	0	0	0	785	1116	39	1	10754	1	APOB	2	21242613	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	594990	21242613	221956760	517	98374											
ITSN2	50618	broad.mit.edu	37	chr2	24480829	24480829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatcctcttcctccatgcAcctccccaaaccaccaattt	1	20	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:24480829A>G	uc002rfe.2	-	23	3074	c.2816T>C	c.(2815-2817)GTG>GCG	p.V939A	ITSN2_uc002rff.2_Missense_Mutation_p.V912A|ITSN2_uc002rfg.2_Missense_Mutation_p.V939A|ITSN2_uc002rfh.1_RNA	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	939	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCCATGCACCTCCCCAAA	0.408													G	24480829	A	G	24480829	3	3	189	1	0	0	0	0	1	0	0	0	7927	159	6	3	2400	3	ITSN2	2	24480829	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3238216	24480829	218718544	518	98375											
ITSN2	50618	broad.mit.edu	37	chr2	24480952	24480952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcttttaagttttctAccacttgtccctatgaatac	5	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:24480952A>G	uc002rfe.2	-	23	2951	c.2693T>C	c.(2692-2694)GTA>GCA	p.V898A	ITSN2_uc002rff.2_Missense_Mutation_p.V871A|ITSN2_uc002rfg.2_Missense_Mutation_p.V898A|ITSN2_uc002rfh.1_RNA	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	898	SH3 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAGTTTTCTACCACTTGTCC	0.348													G	24480952	A	G	24480952	3	3	189	1	0	0	0	0	1	0	0	0	7927	391	14	3	2523	3	ITSN2	2	24480952	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	123	24480952	218718421	519	98376											
NCOA1	8648	broad.mit.edu	37	chr2	24888673	24888673	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttagaagaactagctgagTtactgtctgccaacattagt	8	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:24888673T>A	uc002rfk.2	+	4	403	c.145T>A	c.(145-147)TTA>ATA	p.L49I	NCOA1_uc010eye.2_Missense_Mutation_p.L49I|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Missense_Mutation_p.L49I|NCOA1_uc002rfl.2_Missense_Mutation_p.L49I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	49	Helix-loop-helix motif.|LXXLL motif 1.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAGCTGAGTTACTGTCTGC	0.378			T	PAX3	alveolar rhadomyosarcoma								A	24888673	T	A	24888673	3	1	189	1	0	0	0	0	1	0	0	0	10228	1722	60	5	151	5	NCOA1	2	24888673	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	407721	24888673	218310700	520	98377											
NCOA1	8648	broad.mit.edu	37	chr2	24928022	24928022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgggacaatgcttagCgcccacaccaagtgtaaact	9	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:24928022C>T	uc002rfk.2	+	10	1275	c.1017C>T	c.(1015-1017)AGC>AGT	p.S339S	NCOA1_uc010eye.2_Silent_p.S339S|NCOA1_uc002rfi.2_Silent_p.S188S|NCOA1_uc002rfj.2_Silent_p.S339S|NCOA1_uc002rfl.2_Silent_p.S339S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	339									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATGCTTAGCGCCCACACCA	0.433			T	PAX3	alveolar rhadomyosarcoma								T	24928022	C	T	24928022	2	4	189	1	0	0	0	0	0	0	0	1	10228	767	27	1		1	NCOA1	2	24928022	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	39349	24928022	218271351	521	98378											
CENPO	79172	broad.mit.edu	37	chr2	25039542	25039542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagccctcctgactgggCccttgcagagaaacccactg	10	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:25039542C>T	uc002rfo.1	+	6	811	c.622C>T	c.(622-624)CCC>TCC	p.P208S	CENPO_uc002rfp.1_Missense_Mutation_p.P202S|CENPO_uc002rfq.1_Missense_Mutation_p.P208S	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	208					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCTGACTGGGCCCTTGCAGAG	0.488													T	25039542	C	T	25039542	3	4	189	1	0	0	0	0	1	0	0	0	3239	739	26	2	640	2	CENPO	2	25039542	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	111520	25039542	218159831	522	98379											
ADCY3	109	broad.mit.edu	37	chr2	25062829	25062829	+	Frame_Shift_Del	DEL	C	C	-													agcgcttctggcccaggacgCcccccagcacggtgcccgtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:25062828_25062828GC>G	uc010ykm.2	-	5	1468	c.1269_1269GC>C	c.(1267-1269)ggcfs	p.G423fs	ADCY3_uc002rfr.4_Frame_Shift_Del_p.G34fs|ADCY3_uc002rfs.4_Frame_Shift_Del_p.G423fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	423					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)					GGCCCAGGACGCCCCCCAGCA	0.632													-	25062829	C	-	25062829	7	5	189	1	0	1	0	1	0	0	0	0	295	739	26	0	2230	0	ADCY3	2	25062829	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	23287	25062829	218136544	523	98380											
POMC	5443	broad.mit.edu	37	chr2	25387620	25387620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacagggcccccgagcGgctgcagcacgatctcggca	13	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:25387620G>A	uc002rfy.1	-	3	285	c.22C>T	c.(22-24)CGC>TGC	p.R8C	POMC_uc002rfz.1_Missense_Mutation_p.R8C|POMC_uc002rga.1_Missense_Mutation_p.R8C	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	8					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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCCCCCGAGCGGCTGCAGCAC	0.607													A	25387620	G	A	25387620	3	1	189	1	0	0	0	0	1	0	0	0	12242	1116	39	1	789	1	POMC	2	25387620	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	324791	25387620	217811753	524	98381											
DNMT3A	1788	broad.mit.edu	37	chr2	25468893	25468893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaacaaacttaccctcAatgttccggcacttctgccg	7	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:25468893A>G	uc002rgc.2	-	12	1727	c.1470T>C	c.(1468-1470)ATT>ATC	p.I490I	DNMT3A_uc002rgd.2_Silent_p.I490I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.I301I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	490	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTACCCTCAATGTTCCGGC	0.607			Mis|F|N|S		AML								G	25468893	A	G	25468893	2	3	189	1	0	0	0	0	0	0	0	1	4676	126	5	3		3	DNMT3A	2	25468893	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	81273	25468893	217730480	525	98382											
C2orf18	54978	broad.mit.edu	37	chr2	27000990	27000990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccttcagcggaaaccctCgtgggacactggaggatgca	13	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27000990C>T	uc002rhp.1	+	6	803	c.727C>T	c.(727-729)CGT>TGT	p.R243C	C2orf18_uc002rhq.1_Missense_Mutation_p.R160C|C2orf18_uc010eyo.1_Missense_Mutation_p.R190C|C2orf18_uc010ylc.1_Missense_Mutation_p.R96C	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	243						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAAACCCTCGTGGGACACT	0.602													T	27000990	C	T	27000990	3	4	189	1	0	0	0	0	1	0	0	0	2158	884	31	1	749	1	C2orf18	2	27000990	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1532097	27000990	216198383	526	98383											
TMEM214	54867	broad.mit.edu	37	chr2	27262941	27262941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggggctcccacctgctcAccgtggtgcggcccagcttg	13	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27262941A>G	uc002ria.3	+	15	1776	c.1666A>G	c.(1666-1668)ACC>GCC	p.T556A	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.T511A	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	556						integral to membrane	protein binding				0						CCACCTGCTCACCGTGGTGCG	0.627													G	27262941	A	G	27262941	3	3	189	1	0	0	0	0	1	0	0	0	16134	159	6	3	1724	3	TMEM214	2	27262941	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	261951	27262941	215936432	527	98384											
EMILIN1	11117	broad.mit.edu	37	chr2	27305042	27305042	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggggcgtcctgcaaggActgagcgggcgcctggcaga	18	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27305042A>G	uc002rii.3	+	4	1031	c.603A>G	c.(601-603)GGA>GGG	p.G201G	EMILIN1_uc010eyq.1_Silent_p.G201G|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	201					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGCAAGGACTGAGCGGGC	0.672													G	27305042	A	G	27305042	2	3	189	1	0	0	0	0	0	0	0	1	5093	262	10	3		3	EMILIN1	2	27305042	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	42101	27305042	215894331	528	98385											
ABHD1	84696	broad.mit.edu	37	chr2	27351433	27351433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacaaagcatcttccaagTcctcctgcagtctcagcccc	5	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27351433T>C	uc002rit.2	+	2	399	c.239T>C	c.(238-240)GTC>GCC	p.V80A	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_Intron	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	80						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTTCCAAGTCCTCCTGCAG	0.507													C	27351433	T	C	27351433	3	2	189	1	0	0	0	0	1	0	0	0	73	1667	58	3	245	3	ABHD1	2	27351433	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	46391	27351433	215847940	529	98386											
SLC5A6	8884	broad.mit.edu	37	chr2	27430127	27430127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttctgtccctgctcaccTcataggcactggtgagatgc	9	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27430127T>C	uc002rjd.2	-	3	783	c.392A>G	c.(391-393)GAG>GGG	p.E131G	SLC5A6_uc010eyv.1_Missense_Mutation_p.E131G|SLC5A6_uc002rje.1_Missense_Mutation_p.E131G	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	131					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCTGCTCACCTCATAGGCACT	0.577													C	27430127	T	C	27430127	3	2	189	1	0	0	0	0	1	0	0	0	14669	1565	54	3	1575	3	SLC5A6	2	27430127	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	78694	27430127	215769246	530	98387											
C2orf28	51374	broad.mit.edu	37	chr2	27439752	27439752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcgggattctgggagCcaccactctatccgtctcca	9	14	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27439752C>A	uc002rjf.2	+	7	964	c.791C>A	c.(790-792)GCC>GAC	p.A264D	C2orf28_uc002rjg.2_Missense_Mutation_p.A151D|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	209	Helical; (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGGGAGCCACCACTCTA	0.493													A	27439752	C	A	27439752	3	1	189	1	0	0	0	0	1	0	0	0	2160	739	26	5	817	5	C2orf28	2	27439752	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	9625	27439752	215759621	531	98388											
CAD	790	broad.mit.edu	37	chr2	27444118	27444118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcatccacgtagcagcActggtagtgggagagtgctg	16	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27444118A>G	uc002rji.2	+	3	417	c.255A>G	c.(253-255)GCA>GCG	p.A85A	CAD_uc010eyw.2_Silent_p.A85A	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	85	GATase (Glutamine amidotransferase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACGTAGCAGCACTGGTAGTGG	0.542													G	27444118	A	G	27444118	2	3	189	1	0	0	0	0	0	0	0	1	2565	146	6	3		3	CAD	2	27444118	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4366	27444118	215755255	532	98389											
SNX17	9784	broad.mit.edu	37	chr2	27598544	27598544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggctccttccgggtcAcccgcatgcgatgctggcgg	15	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27598544A>G	uc002rkg.1	+	10	1168	c.946A>G	c.(946-948)ACC>GCC	p.T316A	SNX17_uc010ylj.1_Missense_Mutation_p.T296A|SNX17_uc010ylk.1_Missense_Mutation_p.T102A|SNX17_uc010eza.1_Missense_Mutation_p.T102A|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Missense_Mutation_p.T102A|SNX17_uc010yll.1_Missense_Mutation_p.T102A|SNX17_uc010ylm.1_Missense_Mutation_p.T102A|SNX17_uc010yln.1_Missense_Mutation_p.T304A|SNX17_uc010ylo.1_Missense_Mutation_p.T234A|SNX17_uc010ylp.1_Missense_Mutation_p.T291A|SNX17_uc010ylq.1_Missense_Mutation_p.T102A	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	316					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCGGGTCACCCGCATGCG	0.652													G	27598544	A	G	27598544	3	3	189	1	0	0	0	0	1	0	0	0	14888	159	6	3	984	3	SNX17	2	27598544	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	154426	27598544	215600829	533	98390											
IFT172	26160	broad.mit.edu	37	chr2	27670413	27670413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactctgggctgcagagcgcGtggcatagtaatgagcgatc	14	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27670413G>A	uc002rku.2	-	42	4679	c.4628C>T	c.(4627-4629)ACG>ATG	p.T1543M	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1543					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TGCAGAGCGCGTGGCATAGTA	0.512													A	27670413	G	A	27670413	3	1	189	1	0	0	0	0	1	0	0	0	7557	1145	40	1	649	1	IFT172	2	27670413	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	71869	27670413	215528960	534	98391											
IFT172	26160	broad.mit.edu	37	chr2	27682634	27682634	+	Frame_Shift_Del	DEL	C	C	-													cttctgctgcaccaggtggtCcccccatgcctcctctagtt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27682633_27682633TC>T	uc002rku.3	-	23	2636	c.2585_2585GA>A	c.(2584-2586)gacfs	p.D862fs		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	862					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)					CACCAGGTGGTCCCCCCATGC	0.532													-	27682634	C	-	27682634	7	5	189	1	0	1	0	1	0	0	0	0	7557	855	30	0	2765	0	IFT172	2	27682634	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	12221	27682634	215516739	535	98392											
C2orf16	84226	broad.mit.edu	37	chr2	27802997	27802997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcgtgaaagagatagAcccgtcatacggagaagccc	11	9	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27802997A>G	uc002rkz.3	+	1	3609	c.3558A>G	c.(3556-3558)AGA>AGG	p.R1186R	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1186										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					AAAGAGATAGACCCGTCATAC	0.443													G	27802997	A	G	27802997	2	3	189	1	0	0	0	0	0	0	0	1	2157	272	10	3		3	C2orf16	2	27802997	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	120363	27802997	215396376	536	98393											
GPN1	11321	broad.mit.edu	37	chr2	27854759	27854759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatctctttgctaccagaTttgatcaggtatatctgtct	6	9	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27854759T>C	uc010ymc.1	+	4	367	c.346T>C	c.(346-348)TTT>CTT	p.F116L	ZNF512_uc010yly.1_RNA|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Missense_Mutation_p.F90L|GPN1_uc010yma.1_Missense_Mutation_p.F23L|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_Intron|GPN1_uc010yme.1_Missense_Mutation_p.F116L|GPN1_uc010ezg.1_Intron	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	102						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						TGCTACCAGATTTGATCAGGT	0.378													C	27854759	T	C	27854759	3	2	189	1	0	0	0	0	1	0	0	0	6617	1493	52	3	443	3	GPN1	2	27854759	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	51762	27854759	215344614	537	98394											
MRPL33	9553	broad.mit.edu	37	chr2	27994648	27994648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtgtggtcaccatgTtcctctccgcggtcttctgt	11	14	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:27994648T>C	uc002rlm.1	+	1	65	c.4T>C	c.(4-6)TTC>CTC	p.F2L	MRPL33_uc002rln.1_Missense_Mutation_p.F2L	NM_004891	NP_004882	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33 isoform a	2					translation	mitochondrion|ribosome	structural constituent of ribosome				0	Acute lymphoblastic leukemia(172;0.155)					GGTCACCATGTTCCTCTCCGC	0.652													C	27994648	T	C	27994648	3	2	189	1	0	0	0	0	1	0	0	0	9796	1725	60	3	6	3	MRPL33	2	27994648	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	139889	27994648	215204725	538	98395											
RBKS	64080	broad.mit.edu	37	chr2	28081321	28081321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttacacaccatggaCgtcattgctccaagccgagc	7	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:28081321C>T	uc002rlo.1	-	2	218	c.207G>A	c.(205-207)ACG>ACA	p.T69T	RBKS_uc010ezi.1_Silent_p.T2T|RBKS_uc010ymg.1_Silent_p.T69T	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	69					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					ACACCATGGACGTCATTGCTC	0.408													T	28081321	C	T	28081321	2	4	189	1	0	0	0	0	0	0	0	1	13108	523	19	1		1	RBKS	2	28081321	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	86673	28081321	215118052	539	98396											
FOSL2	2355	broad.mit.edu	37	chr2	28631696	28631696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctgcagccaagtgccGgaaccgacgccgggagctga	16	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:28631696G>A	uc002rma.2	+	3	1234	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	FOSL2_uc010ymi.1_Missense_Mutation_p.R103Q	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	142	Basic motif.				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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					GCCAAGTGCCGGAACCGACGC	0.637													A	28631696	G	A	28631696	3	1	189	1	0	0	0	0	1	0	0	0	5988	1116	39	1	435	1	FOSL2	2	28631696	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	550375	28631696	214567677	540	98397											
WDR43	23160	broad.mit.edu	37	chr2	29124900	29124900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagctgtaggaatgagTaaccagactgacttattggc	11	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:29124900T>C	uc002rmo.2	+	2	305	c.273T>C	c.(271-273)AGT>AGC	p.S91S		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	91	WD 2.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TAGGAATGAGTAACCAGACTG	0.338													C	29124900	T	C	29124900	2	2	189	1	0	0	0	0	0	0	0	1	17292	1635	57	3		3	WDR43	2	29124900	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	493204	29124900	214074473	541	98398											
ALK	238	broad.mit.edu	37	chr2	29498087	29498087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgcaggatcttgtcctctCcgctaactgcaatagagaag	9	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:29498087C>T	uc002rmy.2	-	11	2826	c.1919G>A	c.(1918-1920)GGA>GAA	p.G640E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	640	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTTGTCCTCTCCGCTAACTGC	0.493			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29498087	C	T	29498087	3	4	189	1	0	0	0	0	1	0	0	0	525	855	30	4	3019	4	ALK	2	29498087	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	373187	29498087	213701286	542	98399											
LCLAT1	253558	broad.mit.edu	37	chr2	30756115	30756115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgtggaattgcctgatgcGatatagctacctcagattgg	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:30756115G>A	uc002rnj.2	+	4	622	c.413G>A	c.(412-414)CGA>CAA	p.R138Q	LCLAT1_uc010ymp.1_5'UTR|LCLAT1_uc002rnk.1_Missense_Mutation_p.R138Q|LCLAT1_uc002rnl.2_Missense_Mutation_p.R100Q|LCLAT1_uc010ymq.1_Missense_Mutation_p.R100Q	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	138					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						TGCCTGATGCGATATAGCTAC	0.403													A	30756115	G	A	30756115	3	1	189	1	0	0	0	0	1	0	0	0	8677	1058	37	1	423	1	LCLAT1	2	30756115	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1258028	30756115	212443258	543	98400											
XDH	7498	broad.mit.edu	37	chr2	31598297	31598299	+	In_Frame_Del	DEL	GAA	GAA	-													aggactgtcaggtagaacttGaagaagaagctgagggtgag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:31598296_31598298TGAA>T	uc002rnv.1	-	14	1629_1631	c.1550_1552TTCA>A	c.(1549-1554)ttcaag>tAag	p.517_518FK>*		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	517				FFF -> LLL (in Ref. 3; AAA75287).	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)	AGGTAGAACTTGAAGAAGAAGCT	0.591													-	31598299	GAA	-	31598297	7	5	189	1	0	1	0	1	0	0	0	0	17423	1281	45	0	2538	0	XDH	2	31598297	In_Frame_Del	DEL	GAA	TCGA-CG-5721-01A-11D-1600-08	842182	31598297	211601076	544	98401											
BIRC6	57448	broad.mit.edu	37	chr2	32658760	32658760	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtactacctaaagcttgTatggttggacatgtggactt	10	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:32658760T>C	uc010ezu.2	+	13	3431	c.3297T>C	c.(3295-3297)TGT>TGC	p.C1099C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1099					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTAAAGCTTGTATGGTTGGAC	0.363													C	32658760	T	C	32658760	2	2	189	1	0	0	0	0	0	0	0	1	1438	1644	57	3		3	BIRC6	2	32658760	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1060463	32658760	210540613	545	98402											
BIRC6	57448	broad.mit.edu	37	chr2	32664624	32664624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaatccatgtcaaggcagTgaatgaaagaggaacagaag	11	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:32664624T>C	uc010ezu.2	+	16	3814	c.3680T>C	c.(3679-3681)GTG>GCG	p.V1227A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1227					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTCAAGGCAGTGAATGAAAGA	0.403													C	32664624	T	C	32664624	3	2	189	1	0	0	0	0	1	0	0	0	1438	1696	59	3	3742	3	BIRC6	2	32664624	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5864	32664624	210534749	546	98403											
LTBP1	4052	broad.mit.edu	37	chr2	33586574	33586574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaagctggtggtgagaActataaaggtcagaatcaag	12	5	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:33586574A>G	uc002ros.2	+	28	4265	c.4265A>G	c.(4264-4266)AAC>AGC	p.N1422S	LTBP1_uc002rot.2_Missense_Mutation_p.N1096S|LTBP1_uc002rou.2_Missense_Mutation_p.N1095S|LTBP1_uc002rov.2_Missense_Mutation_p.N1042S|LTBP1_uc010ymz.1_Missense_Mutation_p.N1053S|LTBP1_uc010yna.1_Missense_Mutation_p.N1000S|LTBP1_uc010ynb.1_Missense_Mutation_p.N319S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1421					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGTGGTGAGAACTATAAAGGT	0.388													G	33586574	A	G	33586574	3	3	189	1	0	0	0	0	1	0	0	0	9073	43	2	3	4427	3	LTBP1	2	33586574	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	921950	33586574	209612799	547	98404											
FAM98A	25940	broad.mit.edu	37	chr2	33810704	33810704	+	Frame_Shift_Del	DEL	T	T	-													atgggcaacagaaatagtagTtttaggggataagactgaac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:33810703_33810703GT>G	uc002rpa.1	-	6	856	c.782_782AC>C	c.(781-783)actfs	p.T261fs	FAM98A_uc010yne.1_Frame_Shift_Del_p.T66fs|FAM98A_uc010ynd.1_Frame_Shift_Del_p.T92fs|FAM98A_uc002roz.1_Frame_Shift_Del_p.T99fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	262										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)					AGAAATAGTAGTTTTAGGGGA	0.413													-	33810704	T	-	33810704	7	5	189	1	0	1	0	1	0	0	0	0	5656	1725	60	0	783	0	FAM98A	2	33810704	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	224130	33810704	209388669	548	98405											
VIT	5212	broad.mit.edu	37	chr2	36970392	36970392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgtgtggcgctgccGtacacaggtgagtggttctg	16	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:36970392G>A	uc002rpl.2	+	4	489	c.268G>A	c.(268-270)GTA>ATA	p.V90I	VIT_uc002rpk.2_Missense_Mutation_p.V83I|VIT_uc010ynf.1_Missense_Mutation_p.V83I|VIT_uc002rpm.2_Missense_Mutation_p.V83I|VIT_uc010ezv.2_Missense_Mutation_p.V83I|VIT_uc010ezw.2_Missense_Mutation_p.V83I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	90	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TGGCGCTGCCGTACACAGGTG	0.473													A	36970392	G	A	36970392	3	1	189	1	0	0	0	0	1	0	0	0	17168	1145	40	1	278	1	VIT	2	36970392	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3159688	36970392	206228981	549	98406											
QPCT	25797	broad.mit.edu	37	chr2	37594397	37594397	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagactccaagccagAtttgtcactccagctgatct	7	12	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:37594397A>T	uc002rqg.2	+	4	691	c.569A>T	c.(568-570)GAT>GTT	p.D190V	QPCT_uc002rqh.2_Missense_Mutation_p.D141V	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	190					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				TCCAAGCCAGATTTGTCACTC	0.383													T	37594397	A	T	37594397	3	4	189	1	0	0	0	0	1	0	0	0	12874	333	12	5	583	5	QPCT	2	37594397	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	624005	37594397	205604976	550	98407											
FAM82A1	151393	broad.mit.edu	37	chr2	38231304	38231304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgatcttgaggaaaaccAgaatgctttgaagttctgta	9	6	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:38231304A>G	uc002rql.2	+	10	1247	c.1124A>G	c.(1123-1125)CAG>CGG	p.Q375R	FAM82A1_uc002rqn.1_Missense_Mutation_p.Q553R|FAM82A1_uc002rqm.2_Missense_Mutation_p.Q230R	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	family with sequence similarity 82, member A1	375						cytoplasm|integral to membrane|microtubule|spindle pole	binding			ovary(1)	1						GAGGAAAACCAGAATGCTTTG	0.353													G	38231304	A	G	38231304	3	3	189	1	0	0	0	0	1	0	0	0	5630	188	7	3	2152	3	FAM82A1	2	38231304	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	636907	38231304	204968069	551	98408											
ATL2	64225	broad.mit.edu	37	chr2	38525536	38525536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttttgccatcattgtgcTttataaaatttgcataggtt	6	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:38525536T>C	uc002rqq.2	-	12	1412	c.1382A>G	c.(1381-1383)AAG>AGG	p.K461R	ATL2_uc010ynm.1_Missense_Mutation_p.K443R|ATL2_uc010ynn.1_Missense_Mutation_p.K443R|ATL2_uc010yno.1_Missense_Mutation_p.K290R|ATL2_uc002rqs.2_Missense_Mutation_p.K461R|ATL2_uc002rqr.2_Missense_Mutation_p.K290R	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	461	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						ATCATTGTGCTTTATAAAATT	0.413													C	38525536	T	C	38525536	3	2	189	1	0	0	0	0	1	0	0	0	1107	1609	56	3	489	3	ATL2	2	38525536	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	294232	38525536	204673837	552	98409											
SOS1	6654	broad.mit.edu	37	chr2	39237753	39237753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagtgaggttggtggTatgtcgaatcattttcagaa	12	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:39237753T>C	uc002rrk.3	-	15	2523	c.2482A>G	c.(2482-2484)ACC>GCC	p.T828A	SOS1_uc002rrj.3_Missense_Mutation_p.T442A	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	828	Ras-GEF.				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			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				AGGTTGGTGGTATGTCGAATC	0.333									Noonan_syndrome				C	39237753	T	C	39237753	3	2	189	1	0	0	0	0	1	0	0	0	14936	1638	57	3	1555	3	SOS1	2	39237753	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	712217	39237753	203961620	553	98410											
COX7A2L	9167	broad.mit.edu	37	chr2	42578469	42578469	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggtcaggcaggcctcGtttcaggtagacgggcacac	13	11	2	1	rs61754513		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:42578469G>A	uc002rsk.2	-	3	290	c.235C>T	c.(235-237)CGA>TGA	p.R79*	COX7A2L_uc002rsl.2_RNA	NM_004718	NP_004709	O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2	79					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity				0						GGCAGGCCTCGTTTCAGGTAG	0.468													A	42578469	G	A	42578469	4	1	189	1	0	0	0	0	0	1	0	0	3781	1153	40	1	113	1	COX7A2L	2	42578469	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3340716	42578469	200620904	554	98411											
LRPPRC	10128	broad.mit.edu	37	chr2	44187750	44187750	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgagaaaacatatcActatcagacagacatccatt	5	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:44187750A>G	uc002rtr.2	-	13	1570	c.1512T>C	c.(1510-1512)AGT>AGC	p.S504S	LRPPRC_uc010yob.1_Silent_p.S404S	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	504					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAACATATCACTATCAGACA	0.343													G	44187750	A	G	44187750	2	3	189	1	0	0	0	0	0	0	0	1	8965	156	6	3		3	LRPPRC	2	44187750	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1609281	44187750	199011623	555	98412											
SIX2	10736	broad.mit.edu	37	chr2	45233498	45233498	+	Frame_Shift_Del	DEL	G	G	-													ggcgggctgaggagcagtgcGgggctggatgatgagtggtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:45233497_45233497CG>C	uc002ruo.3	-	1	981	c.688_688CG>G	c.(688-690)gcafs	p.A230fs		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	230						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)				AGGAGCAGTGCGGGGCTGGAT	0.701													-	45233498	G	-	45233498	7	5	189	1	0	1	0	1	0	0	0	0	14347	1103	39	0	192	0	SIX2	2	45233498	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1045748	45233498	197965875	556	98413											
SIX2	10736	broad.mit.edu	37	chr2	45236051	45236051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctctccaggatcttgtAgagctcgcggaagttgccgc	14	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:45236051A>G	uc002ruo.2	-	1	492	c.199T>C	c.(199-201)TAC>CAC	p.Y67H	SIX2_uc002rup.2_Missense_Mutation_p.Y67H	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	67						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGATCTTGTAGAGCTCGCGG	0.632													G	45236051	A	G	45236051	3	3	189	1	0	0	0	0	1	0	0	0	14347	420	15	3	684	3	SIX2	2	45236051	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2553	45236051	197963322	557	98414											
MSH2	4436	broad.mit.edu	37	chr2	47656978	47656978	+	Frame_Shift_Del	DEL	A	A	-													cagatcttaaccgacttgccAagaagtttcaaagacaagca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:47656977_47656977CA>C	uc002rvy.1	+	6	1241	c.1173_1173CA>C	c.(1171-1173)gccfs	p.A391fs	MSH2_uc010yoh.1_Frame_Shift_Del_p.A325fs|MSH2_uc002rvz.3_Frame_Shift_Del_p.A391fs|MSH2_uc010fbg.2_Frame_Shift_Del_p.A201fs	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	391					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|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		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)			ACCGACTTGCCAAGAAGTTTC	0.378			"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				-	47656978	A	-	47656978	7	5	189	1	0	1	0	1	0	0	0	0	9870	131	5	0	1200	0	MSH2	2	47656978	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	2420927	47656978	195542395	558	98415											
MSH6	2956	broad.mit.edu	37	chr2	48027122	48027122	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtatgacttcagagtctgAttccattgggttgacaccag	11	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:48027122A>T	uc002rwd.3	+	4	2152	c.2000A>T	c.(1999-2001)GAT>GTT	p.D667V	MSH6_uc002rwc.2_Missense_Mutation_p.D667V|MSH6_uc010fbj.2_Missense_Mutation_p.D365V|MSH6_uc010yoi.1_Missense_Mutation_p.D537V|MSH6_uc010yoj.1_Missense_Mutation_p.D365V	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	667					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			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGAGTCTGATTCCATTGGG	0.438			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				T	48027122	A	T	48027122	3	4	189	1	0	0	0	0	1	0	0	0	9874	333	12	5	2014	5	MSH6	2	48027122	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	370144	48027122	195172251	559	98416											
MSH6	2956	broad.mit.edu	37	chr2	48027725	48027725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggattcaaagtaaTgtgtaaaattatagggatca	10	3	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:48027725T>C	uc002rwd.3	+	4	2755	c.2603T>C	c.(2602-2604)ATG>ACG	p.M868T	MSH6_uc002rwc.2_Missense_Mutation_p.M868T|MSH6_uc010fbj.2_Missense_Mutation_p.M566T|MSH6_uc010yoi.1_Missense_Mutation_p.M738T|MSH6_uc010yoj.1_Missense_Mutation_p.M566T	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	868					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			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCAAAGTAATGTGTAAAATT	0.378			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				C	48027725	T	C	48027725	3	2	189	1	0	0	0	0	1	0	0	0	9874	1464	51	3	2617	3	MSH6	2	48027725	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	603	48027725	195171648	560	98417											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48808756	48808756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacagcttgatccatattgTaggctttctgaacccaaggt	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:48808756T>C	uc010yol.1	+	1	1031	c.984T>C	c.(982-984)TGT>TGC	p.C328C	STON1_uc002rwo.3_Silent_p.C328C|STON1_uc010fbm.2_Silent_p.C328C|STON1-GTF2A1L_uc002rwp.1_Silent_p.C328C|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.C328C	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	328					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCCATATTGTAGGCTTTCTG	0.363													C	48808756	T	C	48808756	2	2	189	1	0	0	0	0	0	0	0	1	15316	1644	57	3		3	STON1-GTF2A1L	2	48808756	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	781031	48808756	194390617	561	98418											
FSHR	2492	broad.mit.edu	37	chr2	49190230	49190230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagtcagtgaagatgAgcatggccatgcgcttggcg	16	7	1	4	rs113877695		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:49190230A>G	uc002rww.2	-	10	1804	c.1730T>C	c.(1729-1731)CTC>CCC	p.L577P	FSHR_uc002rwx.2_Missense_Mutation_p.L515P|FSHR_uc010fbn.2_Missense_Mutation_p.L551P	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	577	Helical; Name=6; (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	AGTGAAGATGAGCATGGCCAT	0.522									Gonadal_Dysgenesis_46_XX				G	49190230	A	G	49190230	3	3	189	1	0	0	0	0	1	0	0	0	6073	304	11	3	361	3	FSHR	2	49190230	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	381474	49190230	194009143	562	98419											
NRXN1	9378	broad.mit.edu	37	chr2	50464031	50464031	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggccagtctgtctgctcGtgtactgggtcggtcattag	13	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:50464031G>A	uc010fbp.2	-	2	1144	c.337C>T	c.(337-339)CGA>TGA	p.R113*	NRXN1_uc002rxb.3_Nonsense_Mutation_p.R820*|NRXN1_uc010fbq.2_Nonsense_Mutation_p.R1188*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.R1148*|NRXN1_uc002rxc.1_RNA	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	113	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTCTGCTCGTGTACTGGGT	0.473													A	50464031	G	A	50464031	4	1	189	1	0	0	0	0	0	1	0	0	10665	1153	40	1	1105	1	NRXN1	2	50464031	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1273801	50464031	192735342	563	98420											
NRXN1	9378	broad.mit.edu	37	chr2	51254957	51254957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccccccgacgaaaaggCcgctgaacaccgtcatgtcc	10	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:51254957C>T	uc010fbq.2	-	2	1932	c.455G>A	c.(454-456)GGC>GAC	p.G152D	NRXN1_uc002rxe.3_Missense_Mutation_p.G152D|NRXN1_uc002rxd.1_Missense_Mutation_p.G152D	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACGAAAAGGCCGCTGAACAC	0.667													T	51254957	C	T	51254957	3	4	189	1	0	0	0	0	1	0	0	0	10665	739	26	2	4543	2	NRXN1	2	51254957	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	790926	51254957	191944416	564	98421											
PSME4	23198	broad.mit.edu	37	chr2	54125072	54125072	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtatggcacgaagaggcaAcactcggtcatctctcagca	10	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:54125072A>G	uc002rxp.2	-	31	3597	c.3541T>C	c.(3541-3543)TTG>CTG	p.L1181L	PSME4_uc010yop.1_Silent_p.L1067L|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.L556L|PSME4_uc010fbv.1_Silent_p.L325L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1181	HEAT 3.				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			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CGAAGAGGCAACACTCGGTCA	0.413													G	54125072	A	G	54125072	2	3	189	1	0	0	0	0	0	0	0	1	12709	40	2	3		3	PSME4	2	54125072	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2870115	54125072	189074301	565	98422											
SPTBN1	6711	broad.mit.edu	37	chr2	54873365	54873365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccaggggcaccagcctcGcattgacgacatctttgaga	10	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:54873365G>A	uc002rxu.2	+	23	4868	c.4619G>A	c.(4618-4620)CGC>CAC	p.R1540H	SPTBN1_uc002rxx.2_Missense_Mutation_p.R1527H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1540	Spectrin 12.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CACCAGCCTCGCATTGACGAC	0.552													A	54873365	G	A	54873365	3	1	189	1	0	0	0	0	1	0	0	0	15118	1087	38	1	4818	1	SPTBN1	2	54873365	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	748293	54873365	188326008	566	98423											
C2orf63	130162	broad.mit.edu	37	chr2	55449384	55449384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgataccttatcaaaaacaTttcggtatatgatgtaatat	5	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:55449384T>C	uc002ryi.2	-	3	510	c.164A>G	c.(163-165)AAT>AGT	p.N55S	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Intron	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	55							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			ATCAAAAACATTTCGGTATAT	0.343													C	55449384	T	C	55449384	3	2	189	1	0	0	0	0	1	0	0	0	2182	1493	52	3	1640	3	C2orf63	2	55449384	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	576019	55449384	187749989	567	98424											
MTIF2	4528	broad.mit.edu	37	chr2	55470795	55470795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagtcaacaacttcacGtgcccttggctttatagggg	9	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:55470795G>A	uc002ryn.2	-	13	2058	c.1321C>T	c.(1321-1323)CGT>TGT	p.R441C	MTIF2_uc010yox.1_Missense_Mutation_p.R110C|MTIF2_uc002ryo.2_Missense_Mutation_p.R441C	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	441					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						ACAACTTCACGTGCCCTTGGC	0.373													A	55470795	G	A	55470795	3	1	189	1	0	0	0	0	1	0	0	0	9934	1145	40	1	882	1	MTIF2	2	55470795	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	21411	55470795	187728578	568	98425											
CCDC88A	55704	broad.mit.edu	37	chr2	55573429	55573429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatctaattcatctcggTacattctggcagagcgagca	10	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:55573429T>C	uc002ryv.2	-	10	1765	c.923A>G	c.(922-924)TAC>TGC	p.Y308C	CCDC88A_uc010yoz.1_Missense_Mutation_p.Y308C|CCDC88A_uc010ypa.1_Missense_Mutation_p.Y308C|CCDC88A_uc010ypb.1_Missense_Mutation_p.Y210C	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	308	Potential.				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			ovary(2)|skin(2)	4						TTCATCTCGGTACATTCTGGC	0.318													C	55573429	T	C	55573429	3	2	189	1	0	0	0	0	1	0	0	0	2863	1638	57	3	4784	3	CCDC88A	2	55573429	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	102634	55573429	187625944	569	98426											
PAPOLG	64895	broad.mit.edu	37	chr2	61019297	61019297	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcaatcgaagctcgggcGgacttcaatccaaaagattg	10	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:61019297G>T	uc002sai.2	+	17	1783	c.1552G>T	c.(1552-1554)GGA>TGA	p.G518*	PAPOLG_uc002saj.2_Nonsense_Mutation_p.G207*|PAPOLG_uc002sak.2_Nonsense_Mutation_p.G53*|PAPOLG_uc010fch.2_Nonsense_Mutation_p.G207*	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	518					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAGCTCGGGCGGACTTCAATC	0.408													T	61019297	G	T	61019297	4	4	189	1	0	0	0	0	0	1	0	0	11431	1117	39	5	1618	5	PAPOLG	2	61019297	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5445868	61019297	182180076	570	98427											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		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)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	189	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	558230	61577527	181621846	571	98428											
COMMD1	150684	broad.mit.edu	37	chr2	62228080	62228080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcaaatacacacacctgTtgccattatagagctggaat	7	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:62228080T>C	uc002sbp.2	+	2	436	c.425T>C	c.(424-426)GTT>GCT	p.V142A	COMMD1_uc002sbq.1_RNA	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	MURR1	142	COMM.				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			ovary(1)	1	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			CACACACCTGTTGCCATTATA	0.448													C	62228080	T	C	62228080	3	2	189	1	0	0	0	0	1	0	0	0	3714	1725	60	3	431	3	COMMD1	2	62228080	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	650553	62228080	180971293	572	98429											
EHBP1	23301	broad.mit.edu	37	chr2	62991483	62991483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaacattgaaatcactgTaacactttttaaggtaagtt	6	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:62991483T>C	uc002sby.2	+	4	727	c.245T>C	c.(244-246)GTA>GCA	p.V82A	EHBP1_uc010fcp.2_Missense_Mutation_p.V82A|EHBP1_uc010fcq.1_Missense_Mutation_p.V82A|EHBP1_uc002sbx.2_Missense_Mutation_p.V82A|EHBP1_uc002sbz.2_Missense_Mutation_p.V82A|EHBP1_uc002scb.2_Missense_Mutation_p.V82A|EHBP1_uc002sca.2_Missense_Mutation_p.V82A	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	82						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAATCACTGTAACACTTTTT	0.343									Hereditary_Prostate_Cancer				C	62991483	T	C	62991483	3	2	189	1	0	0	0	0	1	0	0	0	4975	1638	57	3	255	3	EHBP1	2	62991483	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	763403	62991483	180207890	573	98430											
EHBP1	23301	broad.mit.edu	37	chr2	63092036	63092036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctacaaaaagaaaaaatAtaagacctgtggatatgagc	8	5	1	3	rs139208941		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:63092036A>C	uc002sby.2	+	10	1515	c.1033A>C	c.(1033-1035)ATA>CTA	p.I345L	EHBP1_uc010fcp.2_Missense_Mutation_p.I310L|EHBP1_uc002sbx.2_Missense_Mutation_p.I310L|EHBP1_uc002sbz.2_Missense_Mutation_p.I310L|EHBP1_uc002scb.2_Missense_Mutation_p.I310L	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	345						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAGAAAAAATATAAGACCTGT	0.383									Hereditary_Prostate_Cancer				C	63092036	A	C	63092036	3	2	189	1	0	0	0	0	1	0	0	0	4975	449	16	5	1067	5	EHBP1	2	63092036	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	100553	63092036	180107337	574	98431											
EHBP1	23301	broad.mit.edu	37	chr2	63176256	63176256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccagatgctgatagaAccactttaaatcatgcagat	7	9	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:63176256A>G	uc002sby.2	+	14	2862	c.2380A>G	c.(2380-2382)ACC>GCC	p.T794A	EHBP1_uc010fcp.2_Missense_Mutation_p.T759A|EHBP1_uc002sbz.2_Missense_Mutation_p.T759A|EHBP1_uc002scb.2_Missense_Mutation_p.T759A	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	794						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGCTGATAGAACCACTTTAAA	0.348									Hereditary_Prostate_Cancer				G	63176256	A	G	63176256	3	3	189	1	0	0	0	0	1	0	0	0	4975	43	2	3	2430	3	EHBP1	2	63176256	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	84220	63176256	180023117	575	98432											
C2orf86	51057	broad.mit.edu	37	chr2	63631685	63631685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagctgtcagccatgggCtctttgtctacacttacgga	10	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:63631685C>T	uc002sch.2	-	10	1379	c.933G>A	c.(931-933)GAG>GAA	p.E311E	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.E152E|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.E119E|C2orf86_uc002sci.1_Silent_p.E287E|C2orf86_uc010fcr.1_Silent_p.E201E	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	311					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						CAGCCATGGGCTCTTTGTCTA	0.493													T	63631685	C	T	63631685	2	4	189	1	0	0	0	0	0	0	0	1	2201	796	28	2		2	C2orf86	2	63631685	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	455429	63631685	179567688	576	98433											
MDH1	4190	broad.mit.edu	37	chr2	63832446	63832446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgctgctgtcatcaaGgctcgaaaactatccagtgc	11	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:63832446G>T	uc002scj.1	+	7	764	c.708G>T	c.(706-708)AAG>AAT	p.K236N	MDH1_uc010ypv.1_Missense_Mutation_p.K254N|MDH1_uc010ypw.1_Missense_Mutation_p.K141N	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	236					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	CTGTCATCAAGGCTCGAAAAC	0.493													T	63832446	G	T	63832446	3	4	189	1	0	0	0	0	1	0	0	0	9408	991	35	5	734	5	MDH1	2	63832446	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	200761	63832446	179366927	577	98434											
AFTPH	54812	broad.mit.edu	37	chr2	64779360	64779360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagaagaaatagaatgtgCagttttaaatgatagagaag	10	1	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:64779360C>T	uc002sdc.2	+	1	784	c.752C>T	c.(751-753)GCA>GTA	p.A251V	AFTPH_uc002scz.2_Missense_Mutation_p.A251V|AFTPH_uc002sda.2_Missense_Mutation_p.A251V|AFTPH_uc002sdb.2_Missense_Mutation_p.A251V	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	251					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						ATAGAATGTGCAGTTTTAAAT	0.343													T	64779360	C	T	64779360	3	4	189	1	0	0	0	0	1	0	0	0	364	710	25	2	754	2	AFTPH	2	64779360	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	946914	64779360	178420013	578	98435											
CEP68	23177	broad.mit.edu	37	chr2	65305008	65305011	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													tgatacgccttaagcaatttAagaaagatatagatgaacat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:65305007_65305010TAAGA>T	uc002sdl.4	+	4	2227_2230	c.2013_2016TAAGA>T	c.(2011-2016)tttaagfs	p.F671fs	CEP68_uc010yqb.1_Intron|CEP68_uc002sdk.4_Frame_Shift_Del_p.F534fs|CEP68_uc010yqc.2_Frame_Shift_Del_p.F671fs	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	671					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTAAGCAATTTAAGAAAGATATAG	0.407													-	65305011	AAGA	-	65305008	7	5	189	1	0	1	0	1	0	0	0	0	3258	363	13	0	2028	0	CEP68	2	65305008	Frame_Shift_Del	DEL	AAGA	TCGA-CG-5721-01A-11D-1600-08	525648	65305008	177894365	579	98436											
ACTR2	10097	broad.mit.edu	37	chr2	65482703	65482703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttgcgaggatacgccTtcaaccactctgctgatttt	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:65482703T>C	uc002sdq.2	+	6	825	c.610T>C	c.(610-612)TTC>CTC	p.F204L	ACTR2_uc010yqf.1_Missense_Mutation_p.F149L|ACTR2_uc002sdp.2_Missense_Mutation_p.F209L|ACTR2_uc010yqg.1_Missense_Mutation_p.F152L	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	204					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0						AGGATACGCCTTCAACCACTC	0.383													C	65482703	T	C	65482703	3	2	189	1	0	0	0	0	1	0	0	0	211	1609	56	3	651	3	ACTR2	2	65482703	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	177695	65482703	177716670	580	98437											
WDR92	116143	broad.mit.edu	37	chr2	68352436	68352436	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaattgccatcgacagTgagcccttgggccgcatctc	10	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:68352436T>C	uc002sed.1	-	9		c.1105A>G						Q96MX6	WDR92_HUMAN	Homo sapiens cDNA FLJ31741 fis, clone NT2RI2007148.						apoptosis|histone lysine methylation		methylated histone residue binding				0						CCATCGACAGTGAGCCCTTGG	0.493													C	68352436	T	C	68352436	1	2	189	0	1	0	0	0	0	0	0	0	17336	1711	59	3		3	WDR92	2	68352436	RNA	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2869733	68352436	174846937	581	98438											
PPP3R1	5534	broad.mit.edu	37	chr2	68413787	68413788	+	Splice_Site	DEL	AA	AA	-													catagatacggaaagcaactAaaaaaaaggaaggaaaatca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:68413786_68413787TAA>T	uc002sei.1	-	5	673	c.281_splice	c.e5-1	p.F94_splice		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	94	EF-hand 3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	GGAAAGCAACTAAAAAAAAGGA	0.332													-	68413788	AA	-	68413787	8	5	189	1	0	1	0	1	0	0	1	0	12400	377	13	0		0	PPP3R1	2	68413787	Splice_Site	DEL	AA	TCGA-CG-5721-01A-11D-1600-08	61351	68413787	174785586	582	98439											
FAM136A	84908	broad.mit.edu	37	chr2	70528094	70528094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcacaacagctggcgcTgcaccggaacatgagaccct	10	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:70528094T>C	uc002sgq.3	-	2	183	c.106A>G	c.(106-108)AGC>GGC	p.S36G	FAM136A_uc010fdp.2_RNA	NM_032822	NP_116211	Q96C01	F136A_HUMAN	hypothetical protein LOC84908	36						mitochondrion	protein binding				0						CAGCTGGCGCTGCACCGGAAC	0.582													C	70528094	T	C	70528094	3	2	189	1	0	0	0	0	1	0	0	0	5450	1580	55	3	318	3	FAM136A	2	70528094	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2114307	70528094	172671279	583	98440											
ADD2	119	broad.mit.edu	37	chr2	70915174	70915174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgtatctcacatgcagcCtgcaggtggaagatcttgta	10	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:70915174C>A	uc002sgz.2	-	9	1395	c.930G>T	c.(928-930)CAG>CAT	p.Q310H	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.Q310H|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.Q310H|ADD2_uc010fdt.1_Missense_Mutation_p.Q310H|ADD2_uc002shc.1_Missense_Mutation_p.Q310H|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.Q326H	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	310					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			ovary(2)|pancreas(1)	3						CACATGCAGCCTGCAGGTGGA	0.527													A	70915174	C	A	70915174	3	1	189	1	0	0	0	0	1	0	0	0	305	680	24	5	1459	5	ADD2	2	70915174	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	387080	70915174	172284199	584	98441											
ATP6V1B1	525	broad.mit.edu	37	chr2	71163109	71163109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggagatagacagcaggCctggggggctccccggcagt	16	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:71163109C>T	uc002shj.2	+	1	112	c.25C>T	c.(25-27)CCT>TCT	p.P9S	ATP6V1B1_uc002shi.1_Missense_Mutation_p.P9S|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.P9S|ATP6V1B1_uc010fdw.2_RNA	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	9					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			skin(1)	1						AGACAGCAGGCCTGGGGGGCT	0.627													T	71163109	C	T	71163109	3	4	189	1	0	0	0	0	1	0	0	0	1178	739	26	2	27	2	ATP6V1B1	2	71163109	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	247935	71163109	172036264	585	98442											
ATP6V1B1	525	broad.mit.edu	37	chr2	71187158	71187158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcatgaacagcattgccCgcggccagaagatccccatc	9	15	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:71187158C>A	uc002shj.2	+	6	622	c.535C>A	c.(535-537)CGC>AGC	p.R179S	ATP6V1B1_uc002shi.1_Missense_Mutation_p.R179S|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R179S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.R137S	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	179					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			skin(1)	1						CAGCATTGCCCGCGGCCAGAA	0.627													A	71187158	C	A	71187158	3	1	189	1	0	0	0	0	1	0	0	0	1178	652	23	5	557	5	ATP6V1B1	2	71187158	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	24049	71187158	172012215	586	98443											
ZNF638	27332	broad.mit.edu	37	chr2	71576963	71576963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgagagtggaaccaagatGtcaggcttacacatttcagg	12	7	2	2	rs141176451		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:71576963G>A	uc002shx.2	+	2	1198	c.879G>A	c.(877-879)ATG>ATA	p.M293I	ZNF638_uc010fec.2_Missense_Mutation_p.M399I|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.M293I|ZNF638_uc002shy.2_Missense_Mutation_p.M293I|ZNF638_uc002shz.2_Missense_Mutation_p.M293I|ZNF638_uc002sia.2_Missense_Mutation_p.M293I|ZNF638_uc002sib.1_Missense_Mutation_p.M293I	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	293					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GAACCAAGATGTCAGGCTTAC	0.438													A	71576963	G	A	71576963	3	1	189	1	0	0	0	0	1	0	0	0	18052	1377	48	4	881	4	ZNF638	2	71576963	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	389805	71576963	171622410	587	98444											
ZNF638	27332	broad.mit.edu	37	chr2	71626730	71626730	+	Frame_Shift_Del	DEL	G	G	-													ctctagaagccaaaaagactGggaatgtcaaaaacaaagac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:71626729_71626729TG>T	uc002shx.3	+	12	2864	c.2541_2541TG>T	c.(2539-2541)actfs	p.T847fs	ZNF638_uc010yqw.1_Frame_Shift_Del_p.T426fs|ZNF638_uc002shz.3_Frame_Shift_Del_p.T847fs|ZNF638_uc002shy.3_Frame_Shift_Del_p.T847fs|ZNF638_uc002sia.3_Frame_Shift_Del_p.T847fs|ZNF638_uc002sib.1_Frame_Shift_Del_p.T847fs|ZNF638_uc002sic.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	847					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide 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						CCAAAAAGACTGGGAATGTCA	0.343													-	71626730	G	-	71626730	7	5	189	1	0	1	0	1	0	0	0	0	18052	1348	47	0	2588	0	ZNF638	2	71626730	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	49767	71626730	171572643	588	98445											
DYSF	8291	broad.mit.edu	37	chr2	71839797	71839797	+	Frame_Shift_Del	DEL	C	C	-													cccagggaggagctctactgCccccccatcaccgtcaaggt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:71839796_71839796GC>G	uc010fen.3	+	38	4388	c.4247_4247GC>G	c.(4246-4248)tgcfs	p.C1416fs	DYSF_uc010fei.3_Frame_Shift_Del_p.C1415fs|DYSF_uc010feh.3_Frame_Shift_Del_p.C1384fs|DYSF_uc002sig.4_Frame_Shift_Del_p.C1384fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.C1429fs|DYSF_uc010fee.3_Frame_Shift_Del_p.C1398fs|DYSF_uc010fef.3_Frame_Shift_Del_p.C1415fs|DYSF_uc002sie.3_Frame_Shift_Del_p.C1398fs|DYSF_uc010feo.3_Frame_Shift_Del_p.C1430fs|DYSF_uc010fej.3_Frame_Shift_Del_p.C1385fs|DYSF_uc010fel.3_Frame_Shift_Del_p.C1385fs|DYSF_uc010fem.3_Frame_Shift_Del_p.C1399fs|DYSF_uc002sif.3_Frame_Shift_Del_p.C1399fs|DYSF_uc010fek.3_Frame_Shift_Del_p.C1416fs|DYSF_uc010yqy.2_Frame_Shift_Del_p.C279fs|DYSF_uc010yqz.2_Frame_Shift_Del_p.C138fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1398						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						GAGCTCTACTGCCCCCCCATC	0.617													-	71839797	C	-	71839797	7	5	189	1	0	1	0	1	0	0	0	0	4859	747	26	0	4540	0	DYSF	2	71839797	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	213067	71839797	171359576	589	98446											
DYSF	8291	broad.mit.edu	37	chr2	71906295	71906295	+	Frame_Shift_Del	DEL	T	T	-													cccagaatggtttgtgtcccTttttgagcagaaaacagtga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:71906294_71906294CT>C	uc010fen.3	+	52	6133	c.5992_5992CT>C	c.(5992-5994)cttfs	p.L1998fs	DYSF_uc010fei.3_Frame_Shift_Del_p.L1976fs|DYSF_uc010feh.3_Frame_Shift_Del_p.L1966fs|DYSF_uc002sig.4_Frame_Shift_Del_p.L1945fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.L1990fs|DYSF_uc010fee.3_Frame_Shift_Del_p.L1980fs|DYSF_uc010fef.3_Frame_Shift_Del_p.L1997fs|DYSF_uc002sie.3_Frame_Shift_Del_p.L1959fs|DYSF_uc010feo.3_Frame_Shift_Del_p.L1991fs|DYSF_uc010fej.3_Frame_Shift_Del_p.L1967fs|DYSF_uc010fel.3_Frame_Shift_Del_p.L1946fs|DYSF_uc010fem.3_Frame_Shift_Del_p.L1981fs|DYSF_uc002sif.3_Frame_Shift_Del_p.L1960fs|DYSF_uc010fek.3_Frame_Shift_Del_p.L1977fs|DYSF_uc010yqy.2_Frame_Shift_Del_p.L840fs|DYSF_uc010yqz.2_Frame_Shift_Del_p.L720fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1959						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						GTTTGTGTCCCTTTTTGAGCA	0.537													-	71906295	T	-	71906295	7	5	189	1	0	1	0	1	0	0	0	0	4859	1609	56	0	6341	0	DYSF	2	71906295	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	66498	71906295	171293078	590	98447											
SFXN5	94097	broad.mit.edu	37	chr2	73195648	73195648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccactcgcgtcagcgcCgtctccagcagggcctgagg	14	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:73195648C>T	uc002siq.2	-	12	887	c.756G>A	c.(754-756)ACG>ACA	p.T252T	SFXN5_uc002sio.2_Silent_p.T144T|SFXN5_uc010yrc.1_Silent_p.T101T|SFXN5_uc002sip.2_RNA|SFXN5_uc010fet.2_Intron|SFXN5_uc010fer.2_RNA|SFXN5_uc010feq.2_Silent_p.T34T|SFXN5_uc010fes.2_Silent_p.T34T	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	252					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						GCGTCAGCGCCGTCTCCAGCA	0.647													T	73195648	C	T	73195648	2	4	189	1	0	0	0	0	0	0	0	1	14198	639	23	1		1	SFXN5	2	73195648	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1289353	73195648	170003725	591	98448											
C2orf7	84279	broad.mit.edu	37	chr2	73455993	73455993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcctggatcatctccaCgtagaagctgtcattgtcaa	8	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:73455993C>T	uc002siy.2	-	4	444	c.376G>A	c.(376-378)GTG>ATG	p.V126M		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	chromosome 2 open reading frame 7 precursor	126	PA.					extracellular region					0						ATCATCTCCACGTAGAAGCTG	0.617													T	73455993	C	T	73455993	3	4	189	1	0	0	0	0	1	0	0	0	2189	536	19	1	198	1	C2orf7	2	73455993	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	260345	73455993	169743380	592	98449											
CCT7	10574	broad.mit.edu	37	chr2	73479961	73479961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccacagcagcaggccGgggccgtggtcgtggccgcc	16	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:73479961G>A	uc002siz.2	+	12	1706	c.1604G>A	c.(1603-1605)CGG>CAG	p.R535Q	CCT7_uc002sja.2_Missense_Mutation_p.R331Q|CCT7_uc010yrf.1_Missense_Mutation_p.R491Q|CCT7_uc010feu.2_Missense_Mutation_p.R493Q|CCT7_uc010yrg.1_Missense_Mutation_p.R435Q|CCT7_uc010yrh.1_Missense_Mutation_p.R407Q|CCT7_uc010yri.1_Missense_Mutation_p.R448Q	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	535					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						GCAGCAGGCCGGGGCCGTGGT	0.627													A	73479961	G	A	73479961	3	1	189	1	0	0	0	0	1	0	0	0	2959	1116	39	1	1650	1	CCT7	2	73479961	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	23968	73479961	169719412	593	98450											
ALMS1	7840	broad.mit.edu	37	chr2	73651914	73651914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttgcaacttcatttgAcataactgatgaaaacatag	6	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:73651914A>G	uc002sje.1	+	6	1235	c.1124A>G	c.(1123-1125)GAC>GGC	p.D375G	ALMS1_uc002sjf.1_Missense_Mutation_p.D332G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	374					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACTTCATTTGACATAACTGAT	0.373													G	73651914	A	G	73651914	3	3	189	1	0	0	0	0	1	0	0	0	535	275	10	3	1139	3	ALMS1	2	73651914	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	171953	73651914	169547459	594	98451											
MTHFD2	10797	broad.mit.edu	37	chr2	74438395	74438395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaacatacaattcttgCagatattgtaatatctgctg	7	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74438395C>T	uc002skk.2	+	6	819	c.740C>T	c.(739-741)GCA>GTA	p.A247V	MTHFD2_uc002skj.2_Missense_Mutation_p.A145V|MTHFD2_uc010yro.1_Missense_Mutation_p.A145V|MTHFD2_uc010ffb.2_Missense_Mutation_p.A206V|MTHFD2_uc010yrp.1_Missense_Mutation_p.A83V	NM_006636	NP_006627	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase 2	247					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				0					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACAATTCTTGCAGATATTGTA	0.408													T	74438395	C	T	74438395	3	4	189	1	0	0	0	0	1	0	0	0	9929	710	25	2	762	2	MTHFD2	2	74438395	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	786481	74438395	168760978	595	98452											
SLC4A5	57835	broad.mit.edu	37	chr2	74474176	74474176	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtcacctgtgtcaggggcGacacactcgcacttgtaggt	13	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74474176G>A	uc002sko.1	-	14	2048	c.2046C>T	c.(2044-2046)GTC>GTT	p.V682V	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.V682V|SLC4A5_uc010ffc.1_Silent_p.V682V|SLC4A5_uc002skp.1_Silent_p.V618V|SLC4A5_uc002sks.1_Silent_p.V682V	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	682	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						TGTCAGGGGCGACACACTCGC	0.537													A	74474176	G	A	74474176	2	1	189	1	0	0	0	0	0	0	0	1	14657	1045	37	1		1	SLC4A5	2	74474176	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	35781	74474176	168725197	596	98453											
DCTN1	1639	broad.mit.edu	37	chr2	74597614	74597614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagggcatccttcaggCgggcattctgctcctcaagc	10	15	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74597614C>T	uc002skx.2	-	11	1417	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H	DCTN1_uc002skv.2_Missense_Mutation_p.R235H|DCTN1_uc002sku.2_Missense_Mutation_p.R235H|DCTN1_uc002skw.1_Missense_Mutation_p.R345H|DCTN1_uc010ffd.2_Missense_Mutation_p.R349H|DCTN1_uc002sky.2_Missense_Mutation_p.R332H	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	369	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						ATCCTTCAGGCGGGCATTCTG	0.522													T	74597614	C	T	74597614	3	4	189	1	0	0	0	0	1	0	0	0	4306	768	27	1	2818	1	DCTN1	2	74597614	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	123438	74597614	168601759	597	98454											
RTKN	6242	broad.mit.edu	37	chr2	74654556	74654556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctctcttactcatgTcaaagaaaagctgccacaga	5	14	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74654556T>C	uc002sle.2	-	10	1367	c.1250A>G	c.(1249-1251)GAC>GGC	p.D417G	RTKN_uc002slc.2_Missense_Mutation_p.D404G|RTKN_uc002sld.2_Missense_Mutation_p.D367G	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	417					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						CTTACTCATGTCAAAGAAAAG	0.473													C	74654556	T	C	74654556	3	2	189	1	0	0	0	0	1	0	0	0	13722	1667	58	3	453	3	RTKN	2	74654556	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	56942	74654556	168544817	598	98455											
WBP1	23559	broad.mit.edu	37	chr2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C													tcaccgcccaggcacaccacINScccccccttatactgtggcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584													C	74687411	-	C	74687410	7	5	189	1	0	1	1	0	0	0	0	0	17254	507	18	0	426	0	WBP1	2	74687410	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	32854	74687410	168511963	599	98456											
MOGS	7841	broad.mit.edu	37	chr2	74688480	74688480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccatgcctcgcccatcGcggtcactgtactgctccca	8	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74688480G>A	uc010ffj.2	-	4	2599	c.2436C>T	c.(2434-2436)CGC>CGT	p.R812R	MOGS_uc010ffh.2_Silent_p.R537R|MOGS_uc010yrt.1_Silent_p.R693R|MOGS_uc010ffi.2_Silent_p.R706R	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	812	Lumenal (Potential).				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				0						CTCGCCCATCGCGGTCACTGT	0.617													A	74688480	G	A	74688480	2	1	189	1	0	0	0	0	0	0	0	1	9697	1074	38	1		1	MOGS	2	74688480	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1070	74688480	168510893	600	98457											
MOGS	7841	broad.mit.edu	37	chr2	74691666	74691666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctccagtcccctccgtgcTgacccccaggcctcttgacg	9	19	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74691666T>G	uc010ffj.2	-	2	699	c.536A>C	c.(535-537)CAG>CCG	p.Q179P	MOGS_uc010ffh.2_5'Flank|MOGS_uc010yrt.1_Missense_Mutation_p.Q60P|MOGS_uc010ffi.2_Missense_Mutation_p.Q73P|MOGS_uc010yru.1_Intron	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	179	Lumenal (Potential).				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				0						CCCTCCGTGCTGACCCCCAGG	0.617													G	74691666	T	G	74691666	3	3	189	1	0	0	0	0	1	0	0	0	9697	1580	55	5	1989	5	MOGS	2	74691666	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3186	74691666	168507707	601	98458											
AUP1	550	broad.mit.edu	37	chr2	74754151	74754151	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacttggcaaatgttagggcTgttggctgaggggtcaccgg	17	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:74754151T>A	uc010yrx.1	-	10	1410	c.1284A>T	c.(1282-1284)ACA>ACT	p.T428T	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Silent_p.T104T|AUP1_uc002smf.2_Silent_p.T371T|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.T280T|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	437	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						ATGTTAGGGCTGTTGGCTGAG	0.547													A	74754151	T	A	74754151	2	1	189	1	0	0	0	0	0	0	0	1	1220	1567	55	5		5	AUP1	2	74754151	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	62485	74754151	168445222	602	98459											
TACR1	6869	broad.mit.edu	37	chr2	75425766	75425766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagaacaggccgtagtAccattcgttgtggacagcat	12	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:75425766A>G	uc002sng.2	-	1	880	c.295T>C	c.(295-297)TAC>CAC	p.Y99H	TACR1_uc002snh.2_Missense_Mutation_p.Y99H	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	99	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AGGCCGTAGTACCATTCGTTG	0.512													G	75425766	A	G	75425766	3	3	189	1	0	0	0	0	1	0	0	0	15502	391	14	3	952	3	TACR1	2	75425766	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	671615	75425766	167773607	603	98460											
LRRTM4	80059	broad.mit.edu	37	chr2	77745646	77745646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttcatgctggctgggTagcgtttccaagacacatag	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:77745646T>C	uc002snr.2	-	3	1764	c.1349A>G	c.(1348-1350)TAC>TGC	p.Y450C	LRRTM4_uc002snq.2_Missense_Mutation_p.Y450C|LRRTM4_uc002sns.2_Missense_Mutation_p.Y450C|LRRTM4_uc002snt.2_Missense_Mutation_p.Y451C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	450	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GCTGGCTGGGTAGCGTTTCCA	0.463													C	77745646	T	C	77745646	3	2	189	1	0	0	0	0	1	0	0	0	9042	1638	57	3	437	3	LRRTM4	2	77745646	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2319880	77745646	165453727	604	98461											
CTNNA2	1496	broad.mit.edu	37	chr2	80816514	80816514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagagaaaagcaagctggAtgcagaagtggccaaatggg	14	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:80816514A>C	uc010ysh.1	+	14	2098	c.2093A>C	c.(2092-2094)GAT>GCT	p.D698A	CTNNA2_uc010yse.1_Missense_Mutation_p.D698A|CTNNA2_uc010ysf.1_Missense_Mutation_p.D698A|CTNNA2_uc010ysg.1_Missense_Mutation_p.D698A|CTNNA2_uc010ysi.1_Missense_Mutation_p.D330A|CTNNA2_uc010ysj.1_Missense_Mutation_p.D27A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	698					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						AGCAAGCTGGATGCAGAAGTG	0.488													C	80816514	A	C	80816514	3	2	189	1	0	0	0	0	1	0	0	0	4013	333	12	5	1939	5	CTNNA2	2	80816514	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3070868	80816514	162382859	605	98462											
TCF7L1	83439	broad.mit.edu	37	chr2	85532498	85532498	+	Frame_Shift_Del	DEL	C	C	-													tcgtcaagcaggaaccggcaCcccccagcctgagccctgca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:85532497_85532497AC>A	uc002soy.3	+	7	1185	c.960_960AC>A	c.(958-960)gcafs	p.A320fs		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	320	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						AGGAACCGGCACCCCCCAGCC	0.662													-	85532498	C	-	85532498	7	5	189	1	0	1	0	1	0	0	0	0	15694	507	18	0	991	0	TCF7L1	2	85532498	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	4715984	85532498	157666875	606	98463											
RETSAT	54884	broad.mit.edu	37	chr2	85571218	85571218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtcactgccccgctttccCttcagctccgcctgccactc	6	20	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:85571218C>A	uc002spd.2	-	9	1628	c.1437G>T	c.(1435-1437)AAG>AAT	p.K479N	RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.K418N|RETSAT_uc010fgf.2_Missense_Mutation_p.K270N	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	479					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	CCCGCTTTCCCTTCAGCTCCG	0.542													A	85571218	C	A	85571218	3	1	189	1	0	0	0	0	1	0	0	0	13238	680	24	5	407	5	RETSAT	2	85571218	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	38720	85571218	157628155	607	98464											
RETSAT	54884	broad.mit.edu	37	chr2	85571464	85571464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcatggagacgtagcGctccatcctgcatgtgacaa	12	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:85571464G>A	uc002spd.2	-	8	1455	c.1264C>T	c.(1264-1266)CGC>TGC	p.R422C	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R361C|RETSAT_uc010fgf.2_Missense_Mutation_p.R213C	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	422					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	GAGACGTAGCGCTCCATCCTG	0.557													A	85571464	G	A	85571464	3	1	189	1	0	0	0	0	1	0	0	0	13238	1087	38	1	584	1	RETSAT	2	85571464	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	246	85571464	157627909	608	98465											
SH2D6	284948	broad.mit.edu	37	chr2	85662598	85662598	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgctatgctgttgagagTgccctgctccacttacaaaa	9	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:85662598T>C	uc002spq.2	+	2	392	c.231T>C	c.(229-231)AGT>AGC	p.S77S	SH2D6_uc002spo.2_Intron|SH2D6_uc002spp.2_RNA	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	77	SH2.									central_nervous_system(1)	1						CTGTTGAGAGTGCCCTGCTCC	0.582													C	85662598	T	C	85662598	2	2	189	1	0	0	0	0	0	0	0	1	14238	1693	59	3		3	SH2D6	2	85662598	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	91134	85662598	157536775	609	98466											
PTCD3	55037	broad.mit.edu	37	chr2	86352118	86352118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttactctcttgtgtctagAgcaaaaaacaacgctgagag	8	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:86352118A>G	uc002sqw.2	+	10	783	c.717A>G	c.(715-717)CGA>CGG	p.R239R	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	239						mitochondrion	protein binding			ovary(1)	1						TTGTGTCTAGAGCAAAAAACA	0.279													G	86352118	A	G	86352118	2	3	189	1	0	0	0	0	0	0	0	1	12729	318	11	3		3	PTCD3	2	86352118	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	689520	86352118	156847255	610	98467											
REEP1	65055	broad.mit.edu	37	chr2	86479109	86479109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatcacagccgctgtggCggccacgttcaagccccgct	11	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:86479109C>T	uc002srh.3	-	5	532	c.388G>A	c.(388-390)GCC>ACC	p.A130T	REEP1_uc010ytg.1_Missense_Mutation_p.A109T|REEP1_uc010yth.1_Missense_Mutation_p.A103T|REEP1_uc010yti.1_Intron	NM_022912	NP_075063	Q9H902	REEP1_HUMAN	receptor accessory protein 1 isoform 2	130					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding				0						GCCGCTGTGGCGGCCACGTTC	0.537													T	86479109	C	T	86479109	3	4	189	1	0	0	0	0	1	0	0	0	13204	768	27	1	290	1	REEP1	2	86479109	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	126991	86479109	156720264	611	98468											
RGPD2	729857	broad.mit.edu	37	chr2	88082493	88082493	+	Frame_Shift_Del	DEL	A	A	-													tagagttctgccatgtgactAaaaacaacttgttcattttc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:88082492_88082492TA>T	uc010fhc.2	-	19	4089	c.4051_4051TA>A	c.(4051-4053)agtfs	p.S1351fs	RGPD2_uc002ssm.1_Frame_Shift_Del_p.S608fs|RGPD2_uc021vkn.1_Frame_Shift_Del_p.S1343fs	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	1343	RanBD1 2.				intracellular transport		binding			breast(1)|pancreas(1)	2						GCCATGTGACTAAAAACAACT	0.358													-	88082493	A	-	88082493	7	5	189	1	0	1	0	1	0	0	0	0	13286	359	13	0	6599	0	RGPD2	2	88082493	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1603384	88082493	155116880	612	98469											
C2orf51	200523	broad.mit.edu	37	chr2	88828868	88828868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctcgtggatcccaaacAccagcctgctgcagagatgg	12	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:88828868A>G	uc002stb.1	+	4	561	c.419A>G	c.(418-420)CAC>CGC	p.H140R		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	140						nucleus				skin(1)	1						GATCCCAAACACCAGCCTGCT	0.572													G	88828868	A	G	88828868	3	3	189	1	0	0	0	0	1	0	0	0	2173	159	6	3	429	3	C2orf51	2	88828868	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	746375	88828868	154370505	613	98470											
EIF2AK3	9451	broad.mit.edu	37	chr2	88879087	88879087	+	Frame_Shift_Del	DEL	T	T	-													aattgcagtcatctactttgTttttagcttcaaaaacaact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:88879086_88879086GT>G	uc002stc.4	-	10	2138	c.1836_1836AC>C	c.(1834-1836)aacfs	p.N612fs		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	612	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein 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						CATCTACTTTGTTTTTAGCTT	0.373													-	88879087	T	-	88879087	7	5	189	1	0	1	0	1	0	0	0	0	4998	1725	60	0	1543	0	EIF2AK3	2	88879087	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	50219	88879087	154320286	614	98471											
EIF2AK3	9451	broad.mit.edu	37	chr2	88885403	88885403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcacaataaacgttgTtgctatgatacaaaacaaaa	6	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:88885403T>C	uc002stc.3	-	9	1808	c.1606A>G	c.(1606-1608)ACA>GCA	p.T536A		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	536	Cytoplasmic (Potential).				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						ATAAACGTTGTTGCTATGATA	0.343													C	88885403	T	C	88885403	3	2	189	1	0	0	0	0	1	0	0	0	4998	1725	60	3	1780	3	EIF2AK3	2	88885403	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6316	88885403	154313970	615	98472											
TEKT4	150483	broad.mit.edu	37	chr2	95537557	95537557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccacagagacccaggCgctggcgcagcgcacgcagc	15	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:95537557C>T	uc002stw.1	+	1	326	c.233C>T	c.(232-234)GCG>GTG	p.A78V	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	78					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GAGACCCAGGCGCTGGCGCAG	0.677													T	95537557	C	T	95537557	3	4	189	1	0	0	0	0	1	0	0	0	15752	768	27	1	235	1	TEKT4	2	95537557	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6652154	95537557	147661816	616	98473											
MAL	4118	broad.mit.edu	37	chr2	95719178	95719178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatgcggtgttctcttTaatcagatggaagtcttcat	10	8	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:95719178T>C	uc002stx.1	+	4	499	c.440T>C	c.(439-441)TTA>TCA	p.L147S	MAL_uc002sty.1_Missense_Mutation_p.L91S|MAL_uc002stz.1_Missense_Mutation_p.L105S|MAL_uc002sua.1_Missense_Mutation_p.L49S	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	147	Helical; (Potential).|MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)		GTGTTCTCTTTAATCAGATGG	0.478													C	95719178	T	C	95719178	3	2	189	1	0	0	0	0	1	0	0	0	9199	1764	61	3	454	3	MAL	2	95719178	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	181621	95719178	147480195	617	98474											
ZNF2	7549	broad.mit.edu	37	chr2	95847341	95847341	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaattcacactggagagaaAccctttcagtgcaacgagtg	10	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:95847341A>G	uc002suf.2	+	6	1227	c.765A>G	c.(763-765)AAA>AAG	p.K255K	ZNF2_uc002sug.2_Silent_p.K213K|ZNF2_uc010yue.1_Silent_p.K218K|ZNF2_uc010fhs.2_Silent_p.K176K	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CTGGAGAGAAACCCTTTCAGT	0.488													G	95847341	A	G	95847341	2	3	189	1	0	0	0	0	0	0	0	1	17757	40	2	3		3	ZNF2	2	95847341	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	128163	95847341	147352032	618	98475											
PROM2	150696	broad.mit.edu	37	chr2	95953207	95953209	+	In_Frame_Del	DEL	GAG	GAG	-													agtacgtggcctgggtgagaGaggaggtgagtggggcctca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:95953206_95953208AGAG>A	uc002suk.3	+	19	2371_2373	c.2238_2240AGAG>A	c.(2236-2241)agagag>agAg	p.E748del	PROM2_uc002suh.2_In_Frame_Del_p.E748del|PROM2_uc002sui.3_In_Frame_Del_p.E748del|PROM2_uc002suj.3_In_Frame_Del_p.E402del|PROM2_uc002sul.3_In_Frame_Del_p.E274del|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	748						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGGTGAGAGAGGAGGTGAGT	0.64													-	95953209	GAG	-	95953207	7	5	189	1	0	1	0	1	0	0	0	0	12556	943	33	0	2317	0	PROM2	2	95953207	In_Frame_Del	DEL	GAG	TCGA-CG-5721-01A-11D-1600-08	105866	95953207	147246166	619	98476											
NCAPH	23397	broad.mit.edu	37	chr2	97025921	97025921	+	Frame_Shift_Del	DEL	A	A	-													gaaaacaaaaagaagagtacAaaaaaagattttgaaattga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:97025920_97025920CA>C	uc002svz.1	+	10	1481	c.1397_1397CA>C	c.(1396-1398)acafs	p.T466fs	NCAPH_uc010fhv.1_Frame_Shift_Del_p.T455fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.T442fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.T330fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	466					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAGAAGAGTACAAAAAAAGAT	0.328													-	97025921	A	-	97025921	7	5	189	1	0	1	0	1	0	0	0	0	10209	117	5	0	1440	0	NCAPH	2	97025921	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1072714	97025921	146173452	620	98477											
ARID5A	10865	broad.mit.edu	37	chr2	97216987	97216987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgaggcctacaagcGgctcctatccagcttctact	8	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:97216987G>A	uc002swe.2	+	7	822	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	ARID5A_uc010yuq.1_Missense_Mutation_p.R189Q|ARID5A_uc002swf.2_Missense_Mutation_p.R77Q|ARID5A_uc002swg.2_Missense_Mutation_p.R189Q	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	241					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						GCCTACAAGCGGCTCCTATCC	0.612													A	97216987	G	A	97216987	3	1	189	1	0	0	0	0	1	0	0	0	921	1116	39	1	748	1	ARID5A	2	97216987	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	191066	97216987	145982386	621	98478											
LMAN2L	81562	broad.mit.edu	37	chr2	97377619	97377619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtcaaatgcctcttgacGtagcgaatcaccaggaaggt	10	11	3	1	rs143337559	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:97377619G>A	uc002swu.2	-	5	687	c.651C>T	c.(649-651)TAC>TAT	p.Y217Y	LMAN2L_uc002swv.2_Silent_p.Y228Y|LMAN2L_uc010yut.1_Silent_p.Y83Y|LMAN2L_uc010yuu.1_Silent_p.Y81Y|LMAN2L_uc010yuv.1_Silent_p.Y70Y|LMAN2L_uc010yuw.1_Silent_p.Y72Y|LMAN2L_uc002sww.2_Silent_p.Y70Y|LMAN2L_uc010yux.1_Silent_p.Y72Y	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	217	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						GCCTCTTGACGTAGCGAATCA	0.552													A	97377619	G	A	97377619	2	1	189	1	0	0	0	0	0	0	0	1	8839	1140	40	1		1	LMAN2L	2	97377619	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	160632	97377619	145821754	622	98479											
CNNM4	26504	broad.mit.edu	37	chr2	97427380	97427380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaccccatggagctgcGcatcgtgcagaactgtggca	13	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:97427380G>A	uc002swx.2	+	1	742	c.644G>A	c.(643-645)CGC>CAC	p.R215H		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	215	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						ATGGAGCTGCGCATCGTGCAG	0.587													A	97427380	G	A	97427380	3	1	189	1	0	0	0	0	1	0	0	0	3615	1087	38	1	646	1	CNNM4	2	97427380	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	49761	97427380	145771993	623	98480											
SEMA4C	54910	broad.mit.edu	37	chr2	97530013	97530013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtacagggtcagtgtagcGgtcccacttctgggcttcct	14	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:97530013G>A	uc002sxh.3	-	10	1229	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Missense_Mutation_p.R410C	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	357	Extracellular (Potential).|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			skin(2)	2						TCAGTGTAGCGGTCCCACTTC	0.607													A	97530013	G	A	97530013	3	1	189	1	0	0	0	0	1	0	0	0	14033	1116	39	1	1456	1	SEMA4C	2	97530013	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	102633	97530013	145669360	624	98481											
ACTR1B	10120	broad.mit.edu	37	chr2	98275421	98275421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctctgccgccttctcccGgttcttactcgggttgagcg	10	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:98275421G>A	uc002syb.2	-	5	569	c.361C>T	c.(361-363)CGG>TGG	p.R121W		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	121						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						GCCTTCTCCCGGTTCTTACTC	0.597													A	98275421	G	A	98275421	3	1	189	1	0	0	0	0	1	0	0	0	210	1115	39	1	797	1	ACTR1B	2	98275421	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	745408	98275421	144923952	625	98482											
ZAP70	7535	broad.mit.edu	37	chr2	98354253	98354253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtggccgctcaagtggTacgcacccgaatgcatcaac	12	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:98354253T>C	uc002syd.1	+	12	1723	c.1516T>C	c.(1516-1518)TAC>CAC	p.Y506H	ZAP70_uc002sye.1_Missense_Mutation_p.Y396H|ZAP70_uc002syf.1_Missense_Mutation_p.Y199H	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	506	Protein kinase.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GCTCAAGTGGTACGCACCCGA	0.637													C	98354253	T	C	98354253	3	2	189	1	0	0	0	0	1	0	0	0	17511	1638	57	3	1554	3	ZAP70	2	98354253	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	78832	98354253	144845120	626	98483											
TMEM131	23505	broad.mit.edu	37	chr2	98411544	98411544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttataaacttcagttcccGaataactctagaagctgtaa	6	8	2	1	rs61753932		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:98411544G>A	uc002syh.3	-	29	3464	c.3235C>T	c.(3235-3237)CGG>TGG	p.R1079W		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1079						integral to membrane				ovary(4)|central_nervous_system(2)	6						TTCAGTTCCCGAATAACTCTA	0.368													A	98411544	G	A	98411544	3	1	189	1	0	0	0	0	1	0	0	0	16041	1057	37	1	2468	1	TMEM131	2	98411544	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	57291	98411544	144787829	627	98484											
VWA3B	200403	broad.mit.edu	37	chr2	98872590	98872590	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttttttttaacaggcgCttgaataaaattgtttggcg	8	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:98872590C>A	uc002syo.2	+	21	3060	c.2796C>A	c.(2794-2796)CGC>CGA	p.R932R	VWA3B_uc002sym.2_Silent_p.R932R|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.R589R|VWA3B_uc002syp.1_Silent_p.R324R|VWA3B_uc002syq.1_Silent_p.R208R|VWA3B_uc002syr.1_Silent_p.R249R|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	932										ovary(3)|large_intestine(2)|skin(1)	6						TTAACAGGCGCTTGAATAAAA	0.348													A	98872590	C	A	98872590	2	1	189	1	0	0	0	0	0	0	0	1	17238	784	28	5		5	VWA3B	2	98872590	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	461046	98872590	144326783	628	98485											
CNGA3	1261	broad.mit.edu	37	chr2	99006150	99006150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaaggatgcgatcgTggtggacccgtccagcaacc	13	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:99006150T>C	uc002syt.2	+	6	896	c.479T>C	c.(478-480)GTG>GCG	p.V160A	CNGA3_uc002syu.2_Missense_Mutation_p.V142A|CNGA3_uc010fij.2_Missense_Mutation_p.V164A	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	160					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GATGCGATCGTGGTGGACCCG	0.527													C	99006150	T	C	99006150	3	2	189	1	0	0	0	0	1	0	0	0	3598	1696	59	3	497	3	CNGA3	2	99006150	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	133560	99006150	144193223	629	98486											
C2orf55	343990	broad.mit.edu	37	chr2	99454683	99454683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctacttcctgtggacgaCggcgattcttttctcttctt	9	11	3	0	rs147976810	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:99454683C>T	uc002szf.1	-	3	432	c.138G>A	c.(136-138)CCG>CCA	p.P46P		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	46											0						CTGTGGACGACGGCGATTCTT	0.408													T	99454683	C	T	99454683	2	4	189	1	0	0	0	0	0	0	0	1	2176	523	19	1		1	C2orf55	2	99454683	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	448533	99454683	143744690	630	98487											
TSGA10	80705	broad.mit.edu	37	chr2	99636888	99636888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagattctctcatttgCcatctgactcctcaggagtt	8	11	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:99636888C>T	uc002szg.3	-	16	2300	c.1672G>A	c.(1672-1674)GCA>ACA	p.A558T	TSGA10_uc002szh.3_Missense_Mutation_p.A558T|TSGA10_uc002szi.3_Missense_Mutation_p.A558T|TSGA10_uc010fin.1_Missense_Mutation_p.A558T	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	558	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						CTCTCATTTGCCATCTGACTC	0.383													T	99636888	C	T	99636888	3	4	189	1	0	0	0	0	1	0	0	0	16614	739	26	2	440	2	TSGA10	2	99636888	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	182205	99636888	143562485	631	98488											
MITD1	129531	broad.mit.edu	37	chr2	99787981	99787981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttcacatacctgatgagTatgtctaatataaggatctt	7	6	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:99787981T>C	uc002szs.1	-	3	430	c.382A>G	c.(382-384)ACT>GCT	p.T128A	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport,	128					protein transport	late endosome membrane				large_intestine(1)|ovary(1)	2						ACCTGATGAGTATGTCTAATA	0.294													C	99787981	T	C	99787981	3	2	189	1	0	0	0	0	1	0	0	0	9595	1638	57	3	387	3	MITD1	2	99787981	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	151093	99787981	143411392	632	98489											
LYG1	129530	broad.mit.edu	37	chr2	99909004	99909004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctcatagctaccacagTagttcaggccgtgacgtctt	9	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:99909004T>C	uc002szy.2	-	4	393	c.143A>G	c.(142-144)TAC>TGC	p.Y48C	MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Missense_Mutation_p.Y48C	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	lysozyme g-like protein 1 precursor	48					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0						GCTACCACAGTAGTTCAGGCC	0.532													C	99909004	T	C	99909004	3	2	189	1	0	0	0	0	1	0	0	0	9104	1638	57	3	457	3	LYG1	2	99909004	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	121023	99909004	143290369	633	98490											
EIF5B	9669	broad.mit.edu	37	chr2	99977650	99977650	+	Frame_Shift_Del	DEL	A	A	-													aggaattcacctcaaaagatAaaaaaaagaaaggacagaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:99977649_99977649TA>T	uc002tab.3	+	3	469	c.285_285TA>T	c.(283-285)gatfs	p.D95fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	95	Poly-Lys.				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						CCTCAAAAGATAAAAAAAAGA	0.303													-	99977650	A	-	99977650	7	5	189	1	0	1	0	1	0	0	0	0	5044	363	13	0	300	0	EIF5B	2	99977650	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	68646	99977650	143221723	634	98491											
AFF3	3899	broad.mit.edu	37	chr2	100175428	100175428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggagggccaggcatcggTaactgcaggcgaaaagagaa	15	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:100175428T>C	uc002tag.2	-	21	3430	c.3194A>G	c.(3193-3195)TAC>TGC	p.Y1065C	AFF3_uc002taf.2_Missense_Mutation_p.Y1090C	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1065					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CAGGCATCGGTAACTGCAGGC	0.463											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	100175428	T	C	100175428	3	2	189	1	0	0	0	0	1	0	0	0	358	1638	57	3	502	3	AFF3	2	100175428	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	197778	100175428	143023945	635	98492											
MAP4K4	9448	broad.mit.edu	37	chr2	102314966	102314966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttttgagctggtggaagTggttggaaatggcacctatg	15	4	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:102314966T>C	uc002tbg.2	+	2	144	c.89T>C	c.(88-90)GTG>GCG	p.V30A	MAP4K4_uc002tbc.2_Missense_Mutation_p.V30A|MAP4K4_uc002tbd.2_Missense_Mutation_p.V30A|MAP4K4_uc002tbe.2_Missense_Mutation_p.V30A|MAP4K4_uc002tbf.2_Missense_Mutation_p.V30A|MAP4K4_uc010yvy.1_Missense_Mutation_p.V30A|MAP4K4_uc002tbh.2_Missense_Mutation_p.V30A|MAP4K4_uc002tbi.2_Missense_Mutation_p.V30A	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	30	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			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CTGGTGGAAGTGGTTGGAAAT	0.478													C	102314966	T	C	102314966	3	2	189	1	0	0	0	0	1	0	0	0	9262	1696	59	3	95	3	MAP4K4	2	102314966	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2139538	102314966	140884407	636	98493											
SLC9A4	389015	broad.mit.edu	37	chr2	103119969	103119969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgaagacatagaaactgtCgacattttggctggatgtgc	11	6	0	3	rs147197838		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:103119969C>T	uc002tbz.3	+	3	1240	c.783C>T	c.(781-783)GTC>GTT	p.V261V		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	261	Extracellular (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						TAGAAACTGTCGACATTTTGG	0.358													T	103119969	C	T	103119969	2	4	189	1	0	0	0	0	0	0	0	1	14716	871	31	1		1	SLC9A4	2	103119969	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	805003	103119969	140079404	637	98494											
SLC9A4	389015	broad.mit.edu	37	chr2	103121775	103121775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtgtcccagacatcatAcacgaccatcaagtacttca	5	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:103121775A>G	uc002tbz.3	+	4	1500	c.1043A>G	c.(1042-1044)TAC>TGC	p.Y348C		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	348	Extracellular (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CAGACATCATACACGACCATC	0.468													G	103121775	A	G	103121775	3	3	189	1	0	0	0	0	1	0	0	0	14716	391	14	3	1057	3	SLC9A4	2	103121775	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1806	103121775	140077598	638	98495											
SULT1C4	27233	broad.mit.edu	37	chr2	108998284	108998284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtggagaaaagtaaacGggcaccgactcatcaacgat	11	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:108998284G>A	uc002tea.1	+	2	609	c.236G>A	c.(235-237)CGG>CAG	p.R79Q	SULT1C4_uc002tdz.2_Missense_Mutation_p.R79Q|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.R79Q	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	79					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						AAAAGTAAACGGGCACCGACT	0.398													A	108998284	G	A	108998284	3	1	189	1	0	0	0	0	1	0	0	0	15376	1116	39	1	242	1	SULT1C4	2	108998284	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5876509	108998284	134201089	639	98496											
GCC2	9648	broad.mit.edu	37	chr2	109086207	109086207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgagttgatggcagTacgttccaaatacagtgaag	11	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:109086207T>C	uc002tec.2	+	6	576	c.422T>C	c.(421-423)GTA>GCA	p.V141A	GCC2_uc002ted.2_Missense_Mutation_p.V40A	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	141	Potential.				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			ovary(1)	1						TTGATGGCAGTACGTTCCAAA	0.338													C	109086207	T	C	109086207	3	2	189	1	0	0	0	0	1	0	0	0	6286	1638	57	3	444	3	GCC2	2	109086207	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	87923	109086207	134113166	640	98497											
GCC2	9648	broad.mit.edu	37	chr2	109102288	109102288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagattctcattctataggAaactgatcacttaatacttc	4	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:109102288A>G	uc002tec.2	+	15	3870	c.3716A>G	c.(3715-3717)GAA>GGA	p.E1239G	GCC2_uc002ted.2_Missense_Mutation_p.E1138G	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	1239	Potential.				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			ovary(1)	1						ATTCTATAGGAAACTGATCAC	0.284													G	109102288	A	G	109102288	3	3	189	1	0	0	0	0	1	0	0	0	6286	260	9	3	3774	3	GCC2	2	109102288	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	16081	109102288	134097085	641	98498											
RANBP2	5903	broad.mit.edu	37	chr2	109371486	109371486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagattcagaaataaaAcattctacaccgtctcctac	4	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:109371486A>G	uc002tem.3	+	16	2454	c.2328A>G	c.(2326-2328)AAA>AAG	p.K776K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	776					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						CAGAAATAAAACATTCTACAC	0.358													G	109371486	A	G	109371486	2	3	189	1	0	0	0	0	0	0	0	1	13028	40	2	3		3	RANBP2	2	109371486	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	269198	109371486	133827887	642	98499											
MERTK	10461	broad.mit.edu	37	chr2	112760715	112760717	+	In_Frame_Del	DEL	TGT	TGT	-													ctacaaaataaactagaagaTgttgtgattgacaggaatct					rs140681547		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:112760714_112760716ATGT>A	uc002thk.1	+	11	1858_1860	c.1736_1738ATGT>A	c.(1735-1740)gatgtt>gAtt	p.V581del	MERTK_uc002thl.1_In_Frame_Del_p.V405del	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	581					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						AAACTAGAAGATGTTGTGATTGA	0.335													-	112760717	TGT	-	112760715	7	5	189	1	0	1	0	1	0	0	0	0	9479	1461	51	0	1783	0	MERTK	2	112760715	In_Frame_Del	DEL	TGT	TCGA-CG-5721-01A-11D-1600-08	3389229	112760715	130438658	643	98500											
TMEM87B	84910	broad.mit.edu	37	chr2	112817574	112817574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaggacctttgatattTaggaaaactatgtttaactc	6	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:112817574T>A	uc002thm.2	+	2	555	c.186T>A	c.(184-186)TTT>TTA	p.F62L	TMEM87B_uc010fkg.2_Missense_Mutation_p.F62L|TMEM87B_uc010fkh.2_Missense_Mutation_p.F62L	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	62						integral to membrane					0						CTTTGATATTTAGGAAAACTA	0.219													A	112817574	T	A	112817574	3	1	189	1	0	0	0	0	1	0	0	0	16208	1751	61	5	192	5	TMEM87B	2	112817574	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	56859	112817574	130381799	644	98501											
TMEM87B	84910	broad.mit.edu	37	chr2	112824632	112824632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgattcacaggtgttTccctctttgaatgtgagtat	9	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:112824632T>C	uc002thm.2	+	4	807	c.438T>C	c.(436-438)TTT>TTC	p.F146F	TMEM87B_uc010fkg.2_Silent_p.F146F|TMEM87B_uc010fkh.2_Silent_p.F146F	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	146						integral to membrane					0						CACAGGTGTTTCCCTCTTTGA	0.318													C	112824632	T	C	112824632	2	2	189	1	0	0	0	0	0	0	0	1	16208	1780	62	3		3	TMEM87B	2	112824632	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7058	112824632	130374741	645	98502											
ZC3H6	376940	broad.mit.edu	37	chr2	113080227	113080227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccaattatttttaggTgttgaatactgatgaagaac	8	5	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:113080227T>C	uc002thq.1	+	9	1482	c.1088T>C	c.(1087-1089)GTG>GCG	p.V363A		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	363	Potential.						nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TATTTTTAGGTGTTGAATACT	0.333													C	113080227	T	C	113080227	3	2	189	1	0	0	0	0	1	0	0	0	17568	1710	59	3	1122	3	ZC3H6	2	113080227	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	255595	113080227	130119146	646	98503											
POLR1B	84172	broad.mit.edu	37	chr2	113304624	113304624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgctttcaaagatgaGcgtatctcttttactattct	6	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:113304624G>A	uc002thw.2	+	2	793	c.213G>A	c.(211-213)GAG>GAA	p.E71E	POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Silent_p.E71E|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Silent_p.E109E|POLR1B_uc002thy.2_Intron|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	71					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			ovary(1)	1						TCAAAGATGAGCGTATCTCTT	0.408													A	113304624	G	A	113304624	2	1	189	1	0	0	0	0	0	0	0	1	12210	962	34	2		2	POLR1B	2	113304624	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	224397	113304624	129894749	647	98504											
SLC20A1	6574	broad.mit.edu	37	chr2	113417111	113417111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agactccaagaagcgaattcGaatggacagttacaccagtt	9	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:113417111G>A	uc002tib.2	+	8	1825	c.1379G>A	c.(1378-1380)CGA>CAA	p.R460Q	SLC20A1_uc002tic.1_Missense_Mutation_p.R272Q	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	460	Cytoplasmic (Potential).				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			ovary(2)	2						AAGCGAATTCGAATGGACAGT	0.488													A	113417111	G	A	113417111	3	1	189	1	0	0	0	0	1	0	0	0	14438	1058	37	1	1405	1	SLC20A1	2	113417111	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	112487	113417111	129782262	648	98505											
CKAP2L	150468	broad.mit.edu	37	chr2	113504147	113504147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtatttcattagaaggTacaccctgaaataaaccaaa	5	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:113504147T>C	uc002tie.2	-	6	1687	c.1608A>G	c.(1606-1608)GTA>GTG	p.V536V	CKAP2L_uc002tif.2_Silent_p.V125V|CKAP2L_uc010yxp.1_Silent_p.V371V	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	536						centrosome					0						CATTAGAAGGTACACCCTGAA	0.348													C	113504147	T	C	113504147	2	2	189	1	0	0	0	0	0	0	0	1	3443	1625	57	3		3	CKAP2L	2	113504147	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	87036	113504147	129695226	649	98506											
CKAP2L	150468	broad.mit.edu	37	chr2	113509871	113509871	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaggttcagacattctgtCagagtgttgttaattttact	9	5	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:113509871C>T	uc002tie.2	-	5	1654	c.1575G>A	c.(1573-1575)CTG>CTA	p.L525L	CKAP2L_uc002tif.2_Silent_p.L114L|CKAP2L_uc010yxp.1_Silent_p.L360L|CKAP2L_uc010yxq.1_Silent_p.L360L	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	525						centrosome					0						GACATTCTGTCAGAGTGTTGT	0.343													T	113509871	C	T	113509871	2	4	189	1	0	0	0	0	0	0	0	1	3443	813	29	4		4	CKAP2L	2	113509871	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5724	113509871	129689502	650	98507											
RABL2A	11159	broad.mit.edu	37	chr2	114398540	114398540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacagagcttcgggagttcAggccagagatcccatgcatc	11	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:114398540A>G	uc002tkn.3	+	6	581	c.367A>G	c.(367-369)AGG>GGG	p.R123G	RABL2A_uc010flb.2_Missense_Mutation_p.R123G|RABL2A_uc002tkl.3_Intron|RABL2A_uc002tkm.3_Intron|RABL2A_uc002tks.3_Missense_Mutation_p.R123G|RABL2A_uc002tkr.2_Missense_Mutation_p.R123G|RABL2A_uc002tkp.3_Missense_Mutation_p.R123G	NM_007082	NP_009013	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	123					small GTPase mediated signal transduction		GTP binding|GTPase activity			skin(1)	1						TCGGGAGTTCAGGCCAGAGAT	0.507													G	114398540	A	G	114398540	3	3	189	1	0	0	0	0	1	0	0	0	12970	179	7	3	385	3	RABL2A	2	114398540	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	888669	114398540	128800833	651	98508											
DDX18	8886	broad.mit.edu	37	chr2	118586976	118586976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacagatctttaatgttAataacctaaatttgcctcag	5	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:118586976A>G	uc002tlh.1	+	13	1903	c.1804A>G	c.(1804-1806)AAT>GAT	p.N602D		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	602							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						CTTTAATGTTAATAACCTAAA	0.373													G	118586976	A	G	118586976	3	3	189	1	0	0	0	0	1	0	0	0	4345	362	13	3	1854	3	DDX18	2	118586976	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4188436	118586976	124612397	652	98509											
CCDC93	54520	broad.mit.edu	37	chr2	118701647	118701647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttctccatattataccGtctgtctaggtcttcctaaa	4	12	5	0	rs142085524	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:118701647G>A	uc002tlj.2	-	18	1492	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W	CCDC93_uc010fld.1_Missense_Mutation_p.R456W	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	456										large_intestine(1)|ovary(1)	2						ATATTATACCGTCTGTCTAGG	0.308													A	118701647	G	A	118701647	3	1	189	1	0	0	0	0	1	0	0	0	2872	1144	40	1	557	1	CCDC93	2	118701647	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	114671	118701647	124497726	653	98510											
TMEM177	80775	broad.mit.edu	37	chr2	120438936	120438936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtaccactgccgtgcaCgccctgctggccccagcttg	11	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:120438936C>T	uc010flg.1	+	2	980	c.507C>T	c.(505-507)CAC>CAT	p.H169H	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.H169H|TMEM177_uc002tmd.2_Silent_p.H169H|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	169	Helical; (Potential).					integral to membrane				ovary(1)	1	Colorectal(110;0.196)					CTGCCGTGCACGCCCTGCTGG	0.652													T	120438936	C	T	120438936	2	4	189	1	0	0	0	0	0	0	0	1	16091	535	19	1		1	TMEM177	2	120438936	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1737289	120438936	122760437	654	98511											
GLI2	2736	broad.mit.edu	37	chr2	121746705	121746705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgcagtacatcaaggCgcacgccagtggcgctctgg	15	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:121746705C>T	uc010flp.2	+	13	3245	c.3215C>T	c.(3214-3216)GCG>GTG	p.A1072V	GLI2_uc002tmq.1_Missense_Mutation_p.A744V|GLI2_uc002tmr.1_Missense_Mutation_p.A727V|GLI2_uc002tmt.3_Missense_Mutation_p.A744V|GLI2_uc002tmu.3_Missense_Mutation_p.A727V	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1072					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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TACATCAAGGCGCACGCCAGT	0.697													T	121746705	C	T	121746705	3	4	189	1	0	0	0	0	1	0	0	0	6438	768	27	1	3265	1	GLI2	2	121746705	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1307769	121746705	121452668	655	98512											
TFCP2L1	29842	broad.mit.edu	37	chr2	122038815	122038815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggacagctggggttccTcctgcttgaagatgggcaga	17	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:122038815T>C	uc002tmx.2	-	2	188	c.95A>G	c.(94-96)GAG>GGG	p.E32G	TFCP2L1_uc010flr.2_Missense_Mutation_p.E32G	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	32	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					CTGGGGTTCCTCCTGCTTGAA	0.632													C	122038815	T	C	122038815	3	2	189	1	0	0	0	0	1	0	0	0	15793	1551	54	3	1400	3	TFCP2L1	2	122038815	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	292110	122038815	121160558	656	98513											
MKI67IP	84365	broad.mit.edu	37	chr2	122493259	122493259	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgaaaagatctgggttTcgtcaagtaggttaggtagg	13	3	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:122493259T>G	uc002tnk.2	-	2	250	c.173A>C	c.(172-174)GAA>GCA	p.E58A	MKI67IP_uc010fls.2_Missense_Mutation_p.E58A	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	MKI67 interacting nucleolar phosphoprotein	58	RRM.				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GATCTGGGTTTCGTCAAGTAG	0.393													G	122493259	T	G	122493259	3	3	189	1	0	0	0	0	1	0	0	0	9599	1783	62	5	732	5	MKI67IP	2	122493259	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	454444	122493259	120706114	657	98514											
MKI67IP	84365	broad.mit.edu	37	chr2	122494368	122494368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccttttgaaactcgAcatcttcctgcggattaagc	6	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:122494368A>G	uc002tnk.2	-	1	136	c.59T>C	c.(58-60)GTC>GCC	p.V20A	MKI67IP_uc010fls.2_Missense_Mutation_p.V20A	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	MKI67 interacting nucleolar phosphoprotein	20					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						TTGAAACTCGACATCTTCCTG	0.632													G	122494368	A	G	122494368	3	3	189	1	0	0	0	0	1	0	0	0	9599	275	10	3	850	3	MKI67IP	2	122494368	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1109	122494368	120705005	658	98515											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504828	125504828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaacaccatttacctggtgGattgggcggtccaatgaaag	13	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:125504828G>T	uc002tno.2	+	14	2461	c.2097G>T	c.(2095-2097)TGG>TGT	p.W699C	CNTNAP5_uc010flu.2_Missense_Mutation_p.W700C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	699	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTACCTGGTGGATTGGGCGGT	0.552													T	125504828	G	T	125504828	3	4	189	1	0	0	0	0	1	0	0	0	3650	1183	41	5	2151	5	CNTNAP5	2	125504828	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3010460	125504828	117694545	659	98516											
MYO7B	4648	broad.mit.edu	37	chr2	128389922	128389922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagtttatagacactcGgagggggaagctgctggccc	14	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:128389922G>A	uc002top.2	+	38	5326	c.5273G>A	c.(5272-5274)CGG>CAG	p.R1758Q	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1758	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATAGACACTCGGAGGGGGAAG	0.682													A	128389922	G	A	128389922	3	1	189	1	0	0	0	0	1	0	0	0	10083	1116	39	1	5419	1	MYO7B	2	128389922	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2885094	128389922	114809451	660	98517											
MYO7B	4648	broad.mit.edu	37	chr2	128389955	128389955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcccccgactgcagccGccgaatccagaaggtcctga	12	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:128389955G>A	uc002top.2	+	38	5359	c.5306G>A	c.(5305-5307)CGC>CAC	p.R1769H	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1769	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACTGCAGCCGCCGAATCCAG	0.682													A	128389955	G	A	128389955	3	1	189	1	0	0	0	0	1	0	0	0	10083	1087	38	1	5452	1	MYO7B	2	128389955	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	33	128389955	114809418	661	98518											
UGGT1	56886	broad.mit.edu	37	chr2	128934410	128934410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatggcactgattctcccCctgatgctgatgaggtggtt	12	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:128934410C>A	uc002tps.2	+	32	3740	c.3562C>A	c.(3562-3564)CCT>ACT	p.P1188T	UGGT1_uc002tpr.2_Missense_Mutation_p.P1164T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1188					'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			ovary(1)	1						TGATTCTCCCCCTGATGCTGA	0.418													A	128934410	C	A	128934410	3	1	189	1	0	0	0	0	1	0	0	0	16938	623	22	5	3688	5	UGGT1	2	128934410	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	544455	128934410	114264963	662	98519											
FAM123C	205147	broad.mit.edu	37	chr2	131520855	131520855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagaaggaagctgagAgcccaggcactcctgccgcc	13	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:131520855A>G	uc002trw.2	+	2	1400	c.1210A>G	c.(1210-1212)AGC>GGC	p.S404G	FAM123C_uc010fmv.2_Missense_Mutation_p.S404G|FAM123C_uc010fms.1_Missense_Mutation_p.S404G|FAM123C_uc010fmt.1_Missense_Mutation_p.S404G|FAM123C_uc010fmu.1_Missense_Mutation_p.S404G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	404										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGAAGCTGAGAGCCCAGGCAC	0.627													G	131520855	A	G	131520855	3	3	189	1	0	0	0	0	1	0	0	0	5424	304	11	3	1212	3	FAM123C	2	131520855	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2586445	131520855	111678518	663	98520											
FAM123C	205147	broad.mit.edu	37	chr2	131521980	131521980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcccttgcagctcagcAcagaggctgtggagcaggtg	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:131521980A>G	uc002trw.2	+	2	2525	c.2335A>G	c.(2335-2337)ACA>GCA	p.T779A	FAM123C_uc010fmv.2_Missense_Mutation_p.T779A|FAM123C_uc010fms.1_Missense_Mutation_p.T779A|FAM123C_uc010fmt.1_Missense_Mutation_p.T779A|FAM123C_uc010fmu.1_Missense_Mutation_p.T779A	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	779										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCAGCTCAGCACAGAGGCTGT	0.672													G	131521980	A	G	131521980	3	3	189	1	0	0	0	0	1	0	0	0	5424	159	6	3	2337	3	FAM123C	2	131521980	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1125	131521980	111677393	664	98521											
MGAT5	4249	broad.mit.edu	37	chr2	135185960	135185960	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccatacatgccatatgaaTttacgtgcgaggggatgcta	11	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:135185960T>A	uc002ttv.1	+	14	1964	c.1819T>A	c.(1819-1821)TTT>ATT	p.F607I		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	607	Lumenal (Potential).				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			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCCATATGAATTTACGTGCGA	0.453													A	135185960	T	A	135185960	3	1	189	1	0	0	0	0	1	0	0	0	9548	1493	52	5	1873	5	MGAT5	2	135185960	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3663980	135185960	108013413	665	98522											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135848570	135848570	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttattggtacatatagggTatatttacttctggcacatg	8	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:135848570T>C	uc002tuj.2	+	4	178	c.153T>C	c.(151-153)GGT>GGC	p.G51G	RAB3GAP1_uc010fnf.2_Silent_p.G51G|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	51						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACATATAGGGTATATTTACTT	0.343													C	135848570	T	C	135848570	2	2	189	1	0	0	0	0	0	0	0	1	12935	1625	57	3		3	RAB3GAP1	2	135848570	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	662610	135848570	107350803	666	98523											
LCT	3938	broad.mit.edu	37	chr2	136548301	136548301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggtctgtttcttcccgCtgggacactccattctctgt	9	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:136548301C>T	uc002tuu.1	-	15	5273	c.5262G>A	c.(5260-5262)CAG>CAA	p.Q1754Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1754	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTCTTCCCGCTGGGACACTC	0.517													T	136548301	C	T	136548301	2	4	189	1	0	0	0	0	0	0	0	1	8693	796	28	2		2	LCT	2	136548301	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	699731	136548301	106651072	667	98524											
CXCR4	7852	broad.mit.edu	37	chr2	136872772	136872772	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaagccaggatgaggatGactgtggtcttgagggcctt	15	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:136872772G>A	uc002tuz.2	-	2	821	c.726C>T	c.(724-726)GTC>GTT	p.V242V	CXCR4_uc002tuy.2_Silent_p.V246V|CXCR4_uc010fnk.2_Silent_p.V227V	NM_003467	NP_003458	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4 isoform b	242	Helical; Name=6.			VIL -> IIP (in Ref. 12; AAK29630).	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			upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GGATGAGGATGACTGTGGTCT	0.517													A	136872772	G	A	136872772	2	1	189	1	0	0	0	0	0	0	0	1	4093	1277	45	4		4	CXCR4	2	136872772	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	324471	136872772	106326601	668	98525											
THSD7B	80731	broad.mit.edu	37	chr2	138169187	138169187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggaacagggaaaagcAgaaagaaggagaaatgccag	14	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:138169187A>G	uc002tva.1	+	13	2611	c.2611A>G	c.(2611-2613)AGA>GGA	p.R871G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.R761G	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGGAAAAGCAGAAAGAAGGA	0.358													G	138169187	A	G	138169187	3	3	189	1	0	0	0	0	1	0	0	0	15877	180	7	3	2661	3	THSD7B	2	138169187	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1296415	138169187	105030186	669	98526											
LRP1B	53353	broad.mit.edu	37	chr2	141232837	141232837	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtttctatgacaacactCtgattggttccatccattcc	6	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:141232837C>A	uc002tvj.1	-	60	10467	c.9495G>T	c.(9493-9495)CAG>CAT	p.Q3165H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3165	Extracellular (Potential).|LDL-receptor class B 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TGACAACACTCTGATTGGTTC	0.363										TSP Lung(27;0.18)			A	141232837	C	A	141232837	3	1	189	1	0	0	0	0	1	0	0	0	8955	912	32	5	4432	5	LRP1B	2	141232837	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3063650	141232837	101966536	670	98527											
LRP1B	53353	broad.mit.edu	37	chr2	141243084	141243084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcattggggaccgctgtgtTatgaactacctacaaaacaa	9	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:141243084T>C	uc002tvj.1	-	59	10225	c.9253A>G	c.(9253-9255)AAC>GAC	p.N3085D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3085	Extracellular (Potential).|LDL-receptor class B 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ACCGCTGTGTTATGAACTACC	0.353										TSP Lung(27;0.18)			C	141243084	T	C	141243084	3	2	189	1	0	0	0	0	1	0	0	0	8955	1754	61	3	4678	3	LRP1B	2	141243084	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10247	141243084	101956289	671	98528											
KYNU	8942	broad.mit.edu	37	chr2	143718259	143718259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggagactcaattgcaGtgatcctgttcagtggggtg	15	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:143718259G>A	uc002tvl.2	+	8	779	c.649G>A	c.(649-651)GTG>ATG	p.V217M	KYNU_uc002tvk.2_Missense_Mutation_p.V217M|KYNU_uc010fnm.2_Missense_Mutation_p.V217M	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	217					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			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTCAATTGCAGTGATCCTGTT	0.423													A	143718259	G	A	143718259	3	1	189	1	0	0	0	0	1	0	0	0	8587	1029	36	4	675	4	KYNU	2	143718259	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2475175	143718259	99481114	672	98529											
ARHGAP15	55843	broad.mit.edu	37	chr2	144525621	144525621	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggggattgtatttggaccTacccttctgcgagctgaaaa	11	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:144525621T>C	uc002tvm.3	+	14	1459	c.1308T>C	c.(1306-1308)CCT>CCC	p.P436P	ARHGAP15_uc002tvn.2_Silent_p.P202P	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	436	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		TATTTGGACCTACCCTTCTGC	0.458													C	144525621	T	C	144525621	2	2	189	1	0	0	0	0	0	0	0	1	866	1509	53	3		3	ARHGAP15	2	144525621	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	807362	144525621	98673752	673	98530											
ORC4L	5000	broad.mit.edu	37	chr2	148693233	148693233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagttctttccatgggcTttattaattctaattgctgc	7	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:148693233T>C	uc002twi.2	-	14	1292	c.1157A>G	c.(1156-1158)AAG>AGG	p.K386R	ORC4L_uc002twj.2_Missense_Mutation_p.K386R|ORC4L_uc010zbo.1_Missense_Mutation_p.K312R|ORC4L_uc010zbp.1_Missense_Mutation_p.K169R|ORC4L_uc010fnr.2_3'UTR|ORC4L_uc010zbq.1_Missense_Mutation_p.K302R|ORC4L_uc002twk.2_Missense_Mutation_p.K386R|ORC4L_uc002twl.1_RNA	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	386					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		TTCCATGGGCTTTATTAATTC	0.383													C	148693233	T	C	148693233	3	2	189	1	0	0	0	0	1	0	0	0	11264	1609	56	3	157	3	ORC4L	2	148693233	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4167612	148693233	94506140	674	98531											
ORC4L	5000	broad.mit.edu	37	chr2	148733504	148733504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgaattaagctgttActctttgatttacgactgct	8	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:148733504A>G	uc002twi.2	-	2	159	c.24T>C	c.(22-24)AGT>AGC	p.S8S	ORC4L_uc002twj.2_Silent_p.S8S|ORC4L_uc010zbo.1_Intron|ORC4L_uc010zbp.1_5'UTR|ORC4L_uc010fnr.2_Silent_p.S8S|ORC4L_uc010zbq.1_Intron|ORC4L_uc002twk.2_Silent_p.S8S|ORC4L_uc010zbr.1_Silent_p.S8S	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	8					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		TTAAGCTGTTACTCTTTGATT	0.294													G	148733504	A	G	148733504	2	3	189	1	0	0	0	0	0	0	0	1	11264	388	14	3		3	ORC4L	2	148733504	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	40271	148733504	94465869	675	98532											
MBD5	55777	broad.mit.edu	37	chr2	149247708	149247708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcaggtataataactacAaaagaactatgatgagtttt	6	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:149247708A>G	uc002twm.3	+	12	4796	c.3808A>G	c.(3808-3810)AAA>GAA	p.K1270E	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.K1270E|MBD5_uc002two.2_Missense_Mutation_p.K528E|MBD5_uc002twp.2_Missense_Mutation_p.K320E	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1270						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAATAACTACAAAAGAACTAT	0.418													G	149247708	A	G	149247708	3	3	189	1	0	0	0	0	1	0	0	0	9347	131	5	3	3834	3	MBD5	2	149247708	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	514204	149247708	93951665	676	98533											
RBM43	375287	broad.mit.edu	37	chr2	152107765	152107765	+	Frame_Shift_Del	DEL	T	T	-													tcctgactcagaatgtggaaTtttttcagtgtgctttcata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:152107764_152107764AT>A	uc002txh.3	-	3	878	c.730_730AT>T	c.(730-732)ttcfs	p.F244fs		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	244							RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGAATGTGGAATTTTTTCAGT	0.383													-	152107765	T	-	152107765	7	5	189	1	0	1	0	1	0	0	0	0	13137	1490	52	0	348	0	RBM43	2	152107765	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2860057	152107765	91091608	677	98534											
NMI	9111	broad.mit.edu	37	chr2	152139394	152139394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaccttattttgttcAtcttttataaattcatctgg	3	7	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:152139394A>G	uc002txi.2	-	2	399	c.69T>C	c.(67-69)GAT>GAC	p.D23D	NMI_uc010zbx.1_Silent_p.D23D|NMI_uc002txj.2_Silent_p.D23D	NM_004688	NP_004679	Q13287	NMI_HUMAN	N-myc and STAT interactor	23					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity				0				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TATTTTGTTCATCTTTTATAA	0.269													G	152139394	A	G	152139394	2	3	189	1	0	0	0	0	0	0	0	1	10497	214	8	3		3	NMI	2	152139394	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	31629	152139394	91059979	678	98535											
RIF1	55183	broad.mit.edu	37	chr2	152321218	152321218	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagtaggagggtgaggagAtctaaaggttgtgattgctg	17	2	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:152321218A>T	uc002txm.2	+	30	5314	c.5184A>T	c.(5182-5184)AGA>AGT	p.R1728S	RIF1_uc002txl.2_Missense_Mutation_p.R1728S|RIF1_uc002txn.2_Missense_Mutation_p.R1728S|RIF1_uc002txo.2_Missense_Mutation_p.R1728S|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1728					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GGGTGAGGAGATCTAAAGGTT	0.368													T	152321218	A	T	152321218	3	4	189	1	0	0	0	0	1	0	0	0	13359	330	12	5	5298	5	RIF1	2	152321218	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	181824	152321218	90878155	679	98536											
NEB	4703	broad.mit.edu	37	chr2	152476094	152476094	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacacttcttggccaaaacGataccaagcatgtccactgg	8	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:152476094G>A	uc010fnx.2	-	69	10205	c.10014C>T	c.(10012-10014)ATC>ATT	p.I3338I		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3338	Nebulin 91.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCCAAAACGATACCAAGCA	0.478													A	152476094	G	A	152476094	2	1	189	1	0	0	0	0	0	0	0	1	10302	1048	37	1		1	NEB	2	152476094	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	154876	152476094	90723279	680	98537											
NEB	4703	broad.mit.edu	37	chr2	152584353	152584353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtgccagagctggtTtggaagtttctgattgctca	13	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:152584353T>C	uc010fnx.2	-	5	337	c.146A>G	c.(145-147)AAA>AGA	p.K49R		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	49					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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGAGCTGGTTTGGAAGTTTC	0.443													C	152584353	T	C	152584353	3	2	189	1	0	0	0	0	1	0	0	0	10302	1841	64	3	26252	3	NEB	2	152584353	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	108259	152584353	90615020	681	98538											
FMNL2	114793	broad.mit.edu	37	chr2	153192179	153192179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgcacaacgtgccttTgaagctgccgatgccagagc	13	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:153192179T>C	uc002tye.2	+	1	429	c.62T>C	c.(61-63)TTG>TCG	p.L21S		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	21					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						AACGTGCCTTTGAAGCTGCCG	0.413													C	153192179	T	C	153192179	3	2	189	1	0	0	0	0	1	0	0	0	5952	1821	63	3	64	3	FMNL2	2	153192179	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	607826	153192179	90007194	682	98539											
PRPF40A	55660	broad.mit.edu	37	chr2	153514439	153514439	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttaggcgatttgtgTtttgattctgatctttgtct	8	5	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:153514439T>C	uc002tyh.3	-	25	2686	c.2664A>G	c.(2662-2664)AAA>AAG	p.K888K	PRPF40A_uc002tyg.3_Silent_p.K344K|PRPF40A_uc010zcd.1_Silent_p.K839K	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	915					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						GCGATTTGTGTTTTGATTCTG	0.348													C	153514439	T	C	153514439	2	2	189	1	0	0	0	0	0	0	0	1	12571	1722	60	3		3	PRPF40A	2	153514439	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	322260	153514439	89684934	683	98540											
PRPF40A	55660	broad.mit.edu	37	chr2	153520288	153520288	+	Splice_Site	DEL	A	A	-													aactacaaatcctttatcctAaaaaaaagaaatcttaacat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:153520287_153520287TA>T	uc002tyh.4	-	19	1994	c.1972_splice	c.e19-1	p.D658_splice	PRPF40A_uc002tyg.4_Splice_Site_p.D114_splice|PRPF40A_uc010zcd.1_Splice_Site_p.D609_splice	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	685	FF 4.				RNA splicing|mRNA processing	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						TCCTTTATCCTAAAAAAAAGA	0.254													-	153520288	A	-	153520288	8	5	189	1	0	1	0	1	0	0	1	0	12571	377	13	0		0	PRPF40A	2	153520288	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	5849	153520288	89679085	684	98541											
NR4A2	4929	broad.mit.edu	37	chr2	157185874	157185874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacaggtgcgcacgccGtagtgttggcaggccgcgtt	14	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:157185874G>A	uc002tyz.3	-	3	1247	c.825C>T	c.(823-825)TAC>TAT	p.Y275Y	NR4A2_uc002tyx.3_Silent_p.Y212Y|NR4A2_uc010zcf.1_Silent_p.Y275Y|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	275	NR C4-type.|Nuclear receptor.				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			ovary(3)	3						TGCGCACGCCGTAGTGTTGGC	0.677													A	157185874	G	A	157185874	2	1	189	1	0	0	0	0	0	0	0	1	10633	1140	40	1		1	NR4A2	2	157185874	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3665586	157185874	86013499	685	98542											
GALNT5	11227	broad.mit.edu	37	chr2	158152254	158152254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctggaaagagtttatttAagtagaaagaaagtggcctg	11	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:158152254A>G	uc002tzg.2	+	4	2076	c.1821A>G	c.(1819-1821)TTA>TTG	p.L607L	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	607	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						GAGTTTATTTAAGTAGAAAGA	0.373													G	158152254	A	G	158152254	2	3	189	1	0	0	0	0	0	0	0	1	6216	359	13	3		3	GALNT5	2	158152254	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	966380	158152254	85047119	686	98543											
ERMN	57471	broad.mit.edu	37	chr2	158182017	158182017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaccttccagactgggTtctaccctgtagtgtggcag	12	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:158182017T>C	uc002tzh.2	-	1	400	c.138A>G	c.(136-138)GAA>GAG	p.E46E	ERMN_uc010zcj.1_5'Flank|ERMN_uc010zck.1_Silent_p.E46E|ERMN_uc002tzi.2_Silent_p.E59E	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein isoform b	46						cytoplasm|cytoskeleton				ovary(1)|skin(1)	2						CCAGACTGGGTTCTACCCTGT	0.458													C	158182017	T	C	158182017	2	2	189	1	0	0	0	0	0	0	0	1	5235	1722	60	3		3	ERMN	2	158182017	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	29763	158182017	85017356	687	98544											
CYTIP	9595	broad.mit.edu	37	chr2	158287107	158287107	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgatctgatcaggtcaacgActtgtttgtaggtaaaacct	9	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:158287107A>C	uc002tzj.1	-	5	512	c.440T>G	c.(439-441)GTC>GGC	p.V147G	CYTIP_uc010zcl.1_Missense_Mutation_p.V41G	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	147	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						CAGGTCAACGACTTGTTTGTA	0.418													C	158287107	A	C	158287107	3	2	189	1	0	0	0	0	1	0	0	0	4207	275	10	5	655	5	CYTIP	2	158287107	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	105090	158287107	84912266	688	98545											
ACVR1C	130399	broad.mit.edu	37	chr2	158412846	158412846	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggggcatttggtgatgcTacagtttaaagaagaaagaa	12	3	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:158412846T>C	uc002tzk.3	-	3	548	c.305_splice	c.e3-1	p.A102_splice	ACVR1C_uc002tzl.3_Intron|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Splice_Site_p.A52_splice	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1						apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						TTGGTGATGCTACAGTTTAAA	0.403													C	158412846	T	C	158412846	5	2	189	1	0	0	0	0	0	0	1	0	222	1536	53	3	1206	3	ACVR1C	2	158412846	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	125739	158412846	84786527	689	98546											
ACVR1	90	broad.mit.edu	37	chr2	158594106	158594106	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagtctttttgatacgCagtgctgtgagtcttgcgga	12	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:158594106C>A	uc002tzm.3	-	12	1806	c.1467G>T	c.(1465-1467)CTG>CTT	p.L489L	ACVR1_uc002tzn.3_Silent_p.L489L|ACVR1_uc010fog.2_Silent_p.L489L	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	489	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTTTGATACGCAGTGCTGTGA	0.388													A	158594106	C	A	158594106	2	1	189	1	0	0	0	0	0	0	0	1	220	697	25	5		5	ACVR1	2	158594106	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	181260	158594106	84605267	690	98547											
UPP2	151531	broad.mit.edu	37	chr2	158971625	158971625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaacagtttgtctgtgtcGgtgggagccccaacagaatg	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:158971625G>A	uc002tzp.2	+	3	387	c.193G>A	c.(193-195)GGT>AGT	p.G65S	UPP2_uc002tzo.2_Missense_Mutation_p.G122S	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	65					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				0						TGTCTGTGTCGGTGGGAGCCC	0.418													A	158971625	G	A	158971625	3	1	189	1	0	0	0	0	1	0	0	0	17010	1116	39	1	382	1	UPP2	2	158971625	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	377519	158971625	84227748	691	98548											
PKP4	8502	broad.mit.edu	37	chr2	159517885	159517885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagctcggaagcaaatgCggtcctgcgaggggctggta	16	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:159517885C>T	uc002tzv.2	+	13	2394	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W	PKP4_uc002tzt.1_Missense_Mutation_p.R564W|PKP4_uc002tzu.2_Missense_Mutation_p.R712W|PKP4_uc002tzw.2_Missense_Mutation_p.R712W|PKP4_uc002tzx.2_Missense_Mutation_p.R369W|PKP4_uc002tzy.1_Missense_Mutation_p.R370W|PKP4_uc002uaa.2_Missense_Mutation_p.R564W|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	712	ARM 6.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						GAAGCAAATGCGGTCCTGCGA	0.577										HNSCC(62;0.18)			T	159517885	C	T	159517885	3	4	189	1	0	0	0	0	1	0	0	0	11987	759	27	1	2180	1	PKP4	2	159517885	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	546260	159517885	83681488	692	98549											
LY75	4065	broad.mit.edu	37	chr2	160738648	160738648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttaccctcattatggagTtttgtgacaaccacctccac	5	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:160738648T>C	uc002ubc.3	-	7	1302	c.1233A>G	c.(1231-1233)AAA>AAG	p.K411K	LY75_uc002ubb.3_Silent_p.K411K|LY75_uc010fos.2_Silent_p.K411K|LY75_uc010fot.1_Silent_p.K411K	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	411	C-type lectin 2.|Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		CATTATGGAGTTTTGTGACAA	0.388													C	160738648	T	C	160738648	2	2	189	1	0	0	0	0	0	0	0	1	9099	1722	60	3		3	LY75	2	160738648	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1220763	160738648	82460725	693	98550											
RBMS1	5937	broad.mit.edu	37	chr2	161133827	161133827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaacctcaacaggaaccGctgtcgtctgcatatgtgca	8	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:161133827G>A	uc002ubo.2	-	12	1574	c.1130C>T	c.(1129-1131)GCG>GTG	p.A377V	RBMS1_uc002ubj.2_Missense_Mutation_p.A357V|RBMS1_uc002ubk.2_Missense_Mutation_p.A341V|RBMS1_uc002ubl.2_Missense_Mutation_p.A372V|RBMS1_uc002ubn.2_Missense_Mutation_p.A374V|RBMS1_uc002ubi.3_Missense_Mutation_p.A390V|RBMS1_uc002ubm.2_Missense_Mutation_p.A360V|RBMS1_uc002ubp.2_Missense_Mutation_p.A393V	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	377					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						AACAGGAACCGCTGTCGTCTG	0.438													A	161133827	G	A	161133827	3	1	189	1	0	0	0	0	1	0	0	0	13148	1087	38	1	98	1	RBMS1	2	161133827	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	395179	161133827	82065546	694	98551											
RBMS1	5937	broad.mit.edu	37	chr2	161135111	161135111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgggccagagggctgAtcattgatgcgggctgtagt	16	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:161135111A>G	uc002ubo.2	-	11	1454	c.1010T>C	c.(1009-1011)ATC>ACC	p.I337T	RBMS1_uc002ubj.2_Missense_Mutation_p.I317T|RBMS1_uc002ubk.2_Missense_Mutation_p.I301T|RBMS1_uc002ubl.2_Missense_Mutation_p.I332T|RBMS1_uc002ubn.2_Missense_Mutation_p.I334T|RBMS1_uc002ubi.3_Missense_Mutation_p.I350T|RBMS1_uc002ubm.2_Missense_Mutation_p.I320T|RBMS1_uc002ubp.2_Missense_Mutation_p.I353T	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	337					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						CAGAGGGCTGATCATTGATGC	0.507											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	161135111	A	G	161135111	3	3	189	1	0	0	0	0	1	0	0	0	13148	333	12	3	222	3	RBMS1	2	161135111	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1284	161135111	82064262	695	98552											
RBMS1	5937	broad.mit.edu	37	chr2	161141508	161141508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattttaacgacatacccGttctgtatagcagctgtagt	7	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:161141508G>A	uc002ubo.2	-	8	1248	c.804C>T	c.(802-804)AAC>AAT	p.N268N	RBMS1_uc002ubj.2_Silent_p.N232N|RBMS1_uc002ubk.2_Silent_p.N232N|RBMS1_uc002ubl.2_Silent_p.N263N|RBMS1_uc002ubn.2_Silent_p.N265N|RBMS1_uc002ubi.3_Silent_p.N265N|RBMS1_uc002ubm.2_Silent_p.N235N|RBMS1_uc002ubp.2_Silent_p.N268N|RBMS1_uc010fox.2_Silent_p.N268N	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	268					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						CGACATACCCGTTCTGTATAG	0.343													A	161141508	G	A	161141508	2	1	189	1	0	0	0	0	0	0	0	1	13148	1136	40	1		1	RBMS1	2	161141508	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6397	161141508	82057865	696	98553											
TBR1	10716	broad.mit.edu	37	chr2	162273269	162273269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccagccacagtctgcGgccactgctcccagtgccat	9	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:162273269G>A	uc002ubw.1	+	1	650	c.348G>A	c.(346-348)GCG>GCA	p.A116A	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CACAGTCTGCGGCCACTGCTC	0.647													A	162273269	G	A	162273269	2	1	189	1	0	0	0	0	0	0	0	1	15644	1103	39	1		1	TBR1	2	162273269	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1131761	162273269	80926104	697	98554											
TBR1	10716	broad.mit.edu	37	chr2	162275431	162275431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacagtccttgcacaagtAccagccccgcctgcatgtgg	9	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:162275431A>G	uc002ubw.1	+	4	1300	c.998A>G	c.(997-999)TAC>TGC	p.Y333C	TBR1_uc010foy.2_Missense_Mutation_p.Y46C	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	333	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TTGCACAAGTACCAGCCCCGC	0.612													G	162275431	A	G	162275431	3	3	189	1	0	0	0	0	1	0	0	0	15644	391	14	3	1012	3	TBR1	2	162275431	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2162	162275431	80923942	698	98555											
GCG	2641	broad.mit.edu	37	chr2	163002048	163002048	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataagaatgtacagacttActctcgccttcctcggcctt	6	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:163002048A>G	uc002ucc.2	-	4	491	c.392_splice	c.e4+1	p.D131_splice		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein						cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)	GTACAGACTTACTCTCGCCTT	0.398													G	163002048	A	G	163002048	5	3	189	1	0	0	0	0	0	0	1	0	6290	405	14	3	160	3	GCG	2	163002048	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	726617	163002048	80197325	699	98556											
KCNH7	90134	broad.mit.edu	37	chr2	163230092	163230092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgctgttaccatactgTaggctggggggaccacagtg	13	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:163230092T>C	uc002uch.1	-	15	3424	c.3212A>G	c.(3211-3213)TAC>TGC	p.Y1071C		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1071	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TACCATACTGTAGGCTGGGGG	0.478													C	163230092	T	C	163230092	3	2	189	1	0	0	0	0	1	0	0	0	8037	1638	57	3	386	3	KCNH7	2	163230092	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	228044	163230092	79969281	700	98557											
KCNH7	90134	broad.mit.edu	37	chr2	163393494	163393494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtggcagcgttttcaTtatccgtcacatattcaaaa	9	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:163393494T>C	uc002uch.1	-	3	616	c.404A>G	c.(403-405)AAT>AGT	p.N135S	KCNH7_uc002uci.2_Missense_Mutation_p.N135S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	135	Cytoplasmic (Potential).|PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AGCGTTTTCATTATCCGTCAC	0.378													C	163393494	T	C	163393494	3	2	189	1	0	0	0	0	1	0	0	0	8037	1493	52	3	3308	3	KCNH7	2	163393494	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	163402	163393494	79805879	701	98558											
FIGN	55137	broad.mit.edu	37	chr2	164467285	164467285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtttgaaatgctgttgtCgggcattctgtacataggac	12	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:164467285C>T	uc002uck.1	-	3	1368	c.1057G>A	c.(1057-1059)GAC>AAC	p.D353N		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	353						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						ATGCTGTTGTCGGGCATTCTG	0.448													T	164467285	C	T	164467285	3	4	189	1	0	0	0	0	1	0	0	0	5891	884	31	1	1226	1	FIGN	2	164467285	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1073791	164467285	78732088	702	98559											
GALNT3	2591	broad.mit.edu	37	chr2	166613688	166613688	+	Frame_Shift_Del	DEL	T	T	-													ttttggaaagctatgagggcTtttgctgcgaaaaacatgtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:166613687_166613687CT>C	uc010fph.1	-	6	1649	c.1262_1262AG>G	c.(1261-1263)agcfs	p.S421fs	GALNT3_uc010fpi.1_Frame_Shift_Del_p.S421fs	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	421					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						GCTATGAGGGCTTTTGCTGCG	0.393													-	166613688	T	-	166613688	7	5	189	1	0	1	0	1	0	0	0	0	6214	1609	56	0	660	0	GALNT3	2	166613688	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2146403	166613688	76585685	703	98560											
SCN9A	6335	broad.mit.edu	37	chr2	167144965	167144966	+	Frame_Shift_Ins	INS	-	-	T													cctcagcttcttcttgctctINStttttaagacggtctaacat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:167144964_167144965C>CT	uc010fpl.3	-	9	1637_1638	c.1296_1297G>AG	c.(1294-1299)aaagagfs	p.K432fs	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Frame_Shift_Ins_p.K303fs|SCN9A_uc002uds.1_Frame_Shift_Ins_p.K303fs|SCN9A_uc002udt.1_Frame_Shift_Ins_p.K303fs	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	432						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)	TCTTCTTGCTCTTTTTTAAGAC	0.391													T	167144966	-	T	167144965	7	5	189	1	0	1	1	0	0	0	0	0	13925	1606	56	0	4709	0	SCN9A	2	167144965	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	531277	167144965	76054408	704	98561											
XIRP2	129446	broad.mit.edu	37	chr2	168105878	168105878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agataagatgaaaaaggaagTtttacaaagctcaagggaca	10	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:168105878T>C	uc002udx.2	+	8	7994	c.7976T>C	c.(7975-7977)GTT>GCT	p.V2659A	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V2484A|XIRP2_uc010fpq.2_Missense_Mutation_p.V2437A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.V5A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2484					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAAAAGGAAGTTTTACAAAGC	0.403													C	168105878	T	C	168105878	3	2	189	1	0	0	0	0	1	0	0	0	17427	1725	60	3	8006	3	XIRP2	2	168105878	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	960913	168105878	75093495	705	98562											
STK39	27347	broad.mit.edu	37	chr2	168931518	168931518	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcttcttttactcttcGtgactgtaaaacaattatgt	4	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:168931518G>A	uc002uea.2	-	12	1376	c.1216C>T	c.(1216-1218)CGA>TGA	p.R406*		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	406					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						TTTACTCTTCGTGACTGTAAA	0.318													A	168931518	G	A	168931518	4	1	189	1	0	0	0	0	0	1	0	0	15304	1153	40	1	449	1	STK39	2	168931518	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	825640	168931518	74267855	706	98563											
LRP2	4036	broad.mit.edu	37	chr2	170009453	170009453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacctagagccctcccctCgcacagtgtaatacacaaca	5	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:170009453C>T	uc002ues.2	-	67	12530	c.12317G>A	c.(12316-12318)CGA>CAA	p.R4106Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4106	Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	GCCCTCCCCTCGCACAGTGTA	0.468													T	170009453	C	T	170009453	3	4	189	1	0	0	0	0	1	0	0	0	8956	884	31	1	1702	1	LRP2	2	170009453	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1077935	170009453	73189920	707	98564											
LRP2	4036	broad.mit.edu	37	chr2	170044660	170044660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattatcctcatcacagaCgaaggttttactaatgcagc	7	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:170044660C>T	uc002ues.2	-	49	9361	c.9148G>A	c.(9148-9150)GTC>ATC	p.V3050I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3050	LDL-receptor class A 24.|Extracellular (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	p.V3050I(1)		ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	TCATCACAGACGAAGGTTTTA	0.512													T	170044660	C	T	170044660	3	4	189	1	0	0	0	0	1	0	0	0	8956	536	19	1	4943	1	LRP2	2	170044660	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	35207	170044660	73154713	708	98565											
LRP2	4036	broad.mit.edu	37	chr2	170097525	170097525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggactcatctgtcccatTggggcagtcaaagatgccat	12	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:170097525T>C	uc002ues.2	-	25	4231	c.4018A>G	c.(4018-4020)AAT>GAT	p.N1340D	LRP2_uc010zdf.1_Missense_Mutation_p.N1203D	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1340	LDL-receptor class A 15.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	TCTGTCCCATTGGGGCAGTCA	0.483													C	170097525	T	C	170097525	3	2	189	1	0	0	0	0	1	0	0	0	8956	1812	63	3	10169	3	LRP2	2	170097525	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	52865	170097525	73101848	709	98566											
FASTKD1	79675	broad.mit.edu	37	chr2	170413695	170413695	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaaatttcagaaaagatAccttttaatcagacatgagt	6	6	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:170413695A>G	uc002uev.3	-	6	1470	c.1082_splice	c.e6+1	p.R361_splice	FASTKD1_uc002uew.3_Splice_Site|FASTKD1_uc002uex.3_Splice_Site_p.R347_splice	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1						apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						CAGAAAAGATACCTTTTAATC	0.373													G	170413695	A	G	170413695	5	3	189	1	0	0	0	0	0	0	1	0	5685	405	14	3	1499	3	FASTKD1	2	170413695	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	316170	170413695	72785678	710	98567											
UBR3	130507	broad.mit.edu	37	chr2	170843155	170843155	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtaacttttttccctcagAttctcctgagaatgatattc	5	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:170843155A>T	uc010zdi.1	+	25	3635	c.3635A>T	c.(3634-3636)GAT>GTT	p.D1212V	UBR3_uc002ufr.3_Intron|UBR3_uc010fqa.2_Missense_Mutation_p.D33V|UBR3_uc002uft.3_Missense_Mutation_p.D65V	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1212					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TTTCCCTCAGATTCTCCTGAG	0.403													T	170843155	A	T	170843155	3	4	189	1	0	0	0	0	1	0	0	0	16900	347	12	5	3733	5	UBR3	2	170843155	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	429460	170843155	72356218	711	98568											
UBR3	130507	broad.mit.edu	37	chr2	170865361	170865361	+	Frame_Shift_Del	DEL	A	A	-													gaatctgtaatgaaagatatAaaaaataccactcagaagaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:170865360_170865360TA>T	uc010zdi.2	+	28	4277	c.4277_4277TA>T	c.(4276-4278)atafs	p.I1426fs	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Frame_Shift_Del_p.I247fs|UBR3_uc002uft.4_Frame_Shift_Del_p.I283fs|UBR3_uc010zdj.2_Frame_Shift_Del_p.I88fs	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1426					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATGAAAGATATAAAAAATACC	0.289													-	170865361	A	-	170865361	7	5	189	1	0	1	0	1	0	0	0	0	16900	352	13	0	4392	0	UBR3	2	170865361	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	22206	170865361	72334012	712	98569											
SP5	389058	broad.mit.edu	37	chr2	171572883	171572883	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcccccggacttcctgCaggtgccctacgaccccgcg	12	20	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:171572883C>T	uc002uge.2	+	2	332	c.166C>T	c.(166-168)CAG>TAG	p.Q56*	LOC440925_uc002ugd.2_5'Flank	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ggACTTCCTGCAGGTGCCCTA	0.647													T	171572883	C	T	171572883	4	4	189	1	0	0	0	0	0	1	0	0	14967	711	25	2	172	2	SP5	2	171572883	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	707522	171572883	71626490	713	98570											
GAD1	2571	broad.mit.edu	37	chr2	171700573	171700573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtttacatatgaaattgcAccagtgtttgtcctcatgga	9	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:171700573A>G	uc002ugi.2	+	7	1079	c.657A>G	c.(655-657)GCA>GCG	p.A219A		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	219					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			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGAAATTGCACCAGTGTTTG	0.368													G	171700573	A	G	171700573	2	3	189	1	0	0	0	0	0	0	0	1	6179	146	6	3		3	GAD1	2	171700573	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	127690	171700573	71498800	714	98571											
DCAF17	80067	broad.mit.edu	37	chr2	172334538	172334538	+	Frame_Shift_Del	DEL	A	A	-													acagcttctggacgggtggtAaaaaaaagttttaaccttct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:172334537_172334537TA>T	uc002ugx.3	+	11	1550	c.1223_1223TA>T	c.(1222-1224)gtafs	p.V408fs	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Frame_Shift_Del_p.V341fs|DCAF17_uc010fqg.3_Frame_Shift_Del_p.V128fs	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	408						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGACGGGTGGTAAAAAAAAGT	0.368													-	172334538	A	-	172334538	7	5	189	1	0	1	0	1	0	0	0	0	4269	349	13	0	1270	0	DCAF17	2	172334538	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	633965	172334538	70864835	715	98572											
HAT1	8520	broad.mit.edu	37	chr2	172823402	172823402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatttcaaggtcaaggccAtggtgctcaacttcttgaaa	8	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:172823402A>G	uc002uhi.2	+	8	831	c.755A>G	c.(754-756)CAT>CGT	p.H252R	HAT1_uc010fqi.2_Missense_Mutation_p.H87R|HAT1_uc002uhj.2_Missense_Mutation_p.H167R	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	252					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTCAAGGCCATGGTGCTCAA	0.323													G	172823402	A	G	172823402	3	3	189	1	0	0	0	0	1	0	0	0	6964	217	8	3	785	3	HAT1	2	172823402	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	488864	172823402	70375971	716	98573											
DLX2	1746	broad.mit.edu	37	chr2	172965310	172965310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccggggcgcccccgccGccgtgatggtggtggtggtg	18	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:172965310G>A	uc002uhn.2	-	3	1160	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	316	Poly-Gly.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGCCCCCGCCGCCGTGATGGT	0.667													A	172965310	G	A	172965310	2	1	189	1	0	0	0	0	0	0	0	1	4571	1074	38	1		1	DLX2	2	172965310	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	141908	172965310	70234063	717	98574											
ZAK	51776	broad.mit.edu	37	chr2	174131421	174131421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccccacaggccatctccCgccaaaaccaataaagagag	7	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:174131421C>T	uc002uhz.2	+	20	2546	c.2346C>T	c.(2344-2346)CCC>CCT	p.P782P	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	782					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			GGCCATCTCCCGCCAAAACCA	0.473													T	174131421	C	T	174131421	2	4	189	1	0	0	0	0	0	0	0	1	17509	639	23	1		1	ZAK	2	174131421	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1166111	174131421	69067952	718	98575											
SP3	6670	broad.mit.edu	37	chr2	174819995	174819995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtctgtggtgtaatAccttgcacaatttgggcttg	12	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:174819995A>G	uc002uig.2	-	4	1409	c.1245T>C	c.(1243-1245)GGT>GGC	p.G415G	SP3_uc002uie.2_Silent_p.G347G|SP3_uc002uif.2_Silent_p.G362G|SP3_uc010zel.1_Silent_p.G412G	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	415	Transactivation domain (Gln-rich).				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)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGGTGTAATACCTTGCACAA	0.443													G	174819995	A	G	174819995	2	3	189	1	0	0	0	0	0	0	0	1	14965	378	14	3		3	SP3	2	174819995	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	688574	174819995	68379378	719	98576											
KIAA1715	80856	broad.mit.edu	37	chr2	176857025	176857025	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaattcatcaggaagatacCacaaatatacaattaagcat	4	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:176857025C>T	uc002ukc.1	-	4	384	c.191G>A	c.(190-192)TGG>TAG	p.W64*	KIAA1715_uc010zer.1_Nonsense_Mutation_p.W64*|KIAA1715_uc010fqw.1_Nonsense_Mutation_p.W130*|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	64	Helical; (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGGAAGATACCACAAATATAC	0.308													T	176857025	C	T	176857025	4	4	189	1	0	0	0	0	0	1	0	0	8254	595	21	4	1135	4	KIAA1715	2	176857025	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2037030	176857025	66342348	720	98577											
EVX2	344191	broad.mit.edu	37	chr2	176948405	176948405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctcgagcacagcatTgccagccgagttggacaaat	12	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:176948405T>C	uc010zeu.1	-	1	286	c.100A>G	c.(100-102)AAT>GAT	p.N34D		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCACAGCATTGCCAGCCGAG	0.592													C	176948405	T	C	176948405	3	2	189	1	0	0	0	0	1	0	0	0	5295	1812	63	3	1340	3	EVX2	2	176948405	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	91380	176948405	66250968	721	98578											
HOXD9	3235	broad.mit.edu	37	chr2	176988303	176988303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagccgcagcagcagcaActtgacccaagtaagtgcaa	10	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:176988303A>G	uc010zex.1	+	1	891	c.807A>G	c.(805-807)CAA>CAG	p.Q269Q		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	269			Missing.			nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGCAGCAGCAACTTGACCCAA	0.517													G	176988303	A	G	176988303	2	3	189	1	0	0	0	0	0	0	0	1	7326	40	2	3		3	HOXD9	2	176988303	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	39898	176988303	66211070	722	98579											
HOXD8	3234	broad.mit.edu	37	chr2	176995458	176995458	+	Frame_Shift_Del	DEL	C	C	-													ctccgcctccgccgccacctCccccctgcggcgggattgcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:176995457_176995457TC>T	uc002uko.3	+	0	990	c.363_363TC>T	c.(361-363)cctfs	p.P121fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P121fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	121	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		cgccgccacctcccccCTGCG	0.692													-	176995458	C	-	176995458	7	5	189	1	0	1	0	1	0	0	0	0	7325	855	30	0	366	0	HOXD8	2	176995458	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	7155	176995458	66203915	723	98580											
HOXD4	3233	broad.mit.edu	37	chr2	177016792	177016792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaaggtgcacgtgaattCgggtaaggctagggtccagt	16	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:177016792C>T	uc002uks.2	+	1	680	c.431C>T	c.(430-432)TCG>TTG	p.S144L		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CACGTGAATTCGGGTAAGGCT	0.607													T	177016792	C	T	177016792	3	4	189	1	0	0	0	0	1	0	0	0	7324	893	31	1	433	1	HOXD4	2	177016792	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21334	177016792	66182581	724	98581											
MTX2	10651	broad.mit.edu	37	chr2	177193105	177193105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcaacaatatgctgttgActgcagaggtaaaatactag	9	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:177193105A>G	uc002ukx.2	+	6	605	c.370A>G	c.(370-372)ACT>GCT	p.T124A	MTX2_uc002ukw.2_Missense_Mutation_p.T114A	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	124					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TATGCTGTTGACTGCAGAGGT	0.338													G	177193105	A	G	177193105	3	3	189	1	0	0	0	0	1	0	0	0	9968	275	10	3	392	3	MTX2	2	177193105	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	176313	177193105	66006268	725	98582											
NFE2L2	4780	broad.mit.edu	37	chr2	178098751	178098751	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgggagtagttggcagaTccactggtttctgactggat	13	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:178098751T>G	uc002ulh.3	-	2	849	c.294A>C	c.(292-294)GGA>GGC	p.G98G	NFE2L2_uc002ulg.3_Silent_p.G82G|NFE2L2_uc010zfa.1_Silent_p.G82G|NFE2L2_uc002uli.3_Silent_p.G82G|NFE2L2_uc010fra.2_Silent_p.G82G|NFE2L2_uc010frb.2_Silent_p.G82G	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	98					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)	1			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)			AGTTGGCAGATCCACTGGTTT	0.368			Mis		NSCLC|HNSCC					HNSCC(56;0.16)			G	178098751	T	G	178098751	2	3	189	1	0	0	0	0	0	0	0	1	10368	1422	50	5		5	NFE2L2	2	178098751	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	905646	178098751	65100622	726	98583											
AGPS	8540	broad.mit.edu	37	chr2	178386079	178386079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattagtgacccactgaccGtatttgaacaaactgaggta	9	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:178386079G>A	uc002ull.2	+	18	1827	c.1780G>A	c.(1780-1782)GTA>ATA	p.V594I	AGPS_uc010zfb.1_Missense_Mutation_p.V504I	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	594					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CCCACTGACCGTATTTGAACA	0.333													A	178386079	G	A	178386079	3	1	189	1	0	0	0	0	1	0	0	0	394	1145	40	1	1850	1	AGPS	2	178386079	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	287328	178386079	64813294	727	98584											
TTN	7273	broad.mit.edu	37	chr2	179395406	179395406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacctcttttgccctTaatacactgctttcaaccac	5	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179395406T>C	uc010zfg.1	-	307	98456	c.98232A>G	c.(98230-98232)TTA>TTG	p.L32744L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L26439L|TTN_uc010zfi.1_Silent_p.L26372L|TTN_uc010zfj.1_Silent_p.L26247L|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33671							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTGCCCTTAATACACTGC	0.428													C	179395406	T	C	179395406	2	2	189	1	0	0	0	0	0	0	0	1	16732	1751	61	3		3	TTN	2	179395406	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1009327	179395406	63803967	728	98585											
TTN	7273	broad.mit.edu	37	chr2	179399400	179399400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacttcaggtgcatagTattctggggcagtgaataga	15	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179399400T>C	uc010zfg.1	-	307	94462	c.94238A>G	c.(94237-94239)TAC>TGC	p.Y31413C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y25108C|TTN_uc010zfi.1_Missense_Mutation_p.Y25041C|TTN_uc010zfj.1_Missense_Mutation_p.Y24916C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32340							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGCATAGTATTCTGGGGC	0.463													C	179399400	T	C	179399400	3	2	189	1	0	0	0	0	1	0	0	0	16732	1638	57	3	6057	3	TTN	2	179399400	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3994	179399400	63799973	729	98586											
TTN	7273	broad.mit.edu	37	chr2	179410270	179410270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatagtctttgttgacaCgtgtccagcgcaggctcttc	9	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179410270C>T	uc010zfg.1	-	293	88087	c.87863G>A	c.(87862-87864)CGT>CAT	p.R29288H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22983H|TTN_uc010zfi.1_Missense_Mutation_p.R22916H|TTN_uc010zfj.1_Missense_Mutation_p.R22791H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30215							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTGACACGTGTCCAGCG	0.483													T	179410270	C	T	179410270	3	4	189	1	0	0	0	0	1	0	0	0	16732	536	19	1	12488	1	TTN	2	179410270	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10870	179410270	63789103	730	98587											
TTN	7273	broad.mit.edu	37	chr2	179425761	179425761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccagctttgacaacaatAacgtctcggaacttgacatc	6	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179425761A>G	uc010zfg.1	-	275	77618	c.77394T>C	c.(77392-77394)GTT>GTC	p.V25798V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V19493V|TTN_uc010zfi.1_Silent_p.V19426V|TTN_uc010zfj.1_Silent_p.V19301V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26725							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAACAATAACGTCTCGGA	0.443													G	179425761	A	G	179425761	2	3	189	1	0	0	0	0	0	0	0	1	16732	349	13	3		3	TTN	2	179425761	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	15491	179425761	63773612	731	98588											
TTN	7273	broad.mit.edu	37	chr2	179426570	179426570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatgttgtagaggtggTttctttcttttcaacaatgt	10	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179426570T>C	uc010zfg.1	-	275	76809	c.76585A>G	c.(76585-76587)ACC>GCC	p.T25529A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T19224A|TTN_uc010zfi.1_Missense_Mutation_p.T19157A|TTN_uc010zfj.1_Missense_Mutation_p.T19032A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26456							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R25529C(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGAGGTGGTTTCTTTCTTT	0.393													C	179426570	T	C	179426570	3	2	189	1	0	0	0	0	1	0	0	0	16732	1725	60	3	23838	3	TTN	2	179426570	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	809	179426570	63772803	732	98589											
TTN	7273	broad.mit.edu	37	chr2	179427717	179427717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccctgtcagtgagaatGccttctgccttttcccattt	8	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179427717G>A	uc010zfg.1	-	275	75662	c.75438C>T	c.(75436-75438)GGC>GGT	p.G25146G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G18841G|TTN_uc010zfi.1_Silent_p.G18774G|TTN_uc010zfj.1_Silent_p.G18649G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26073							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGAGAATGCCTTCTGCCT	0.438													A	179427717	G	A	179427717	2	1	189	1	0	0	0	0	0	0	0	1	16732	1306	46	2		2	TTN	2	179427717	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1147	179427717	63771656	733	98590											
TTN	7273	broad.mit.edu	37	chr2	179436182	179436182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgaattgaggtaggTactcttcccatatctgtttt	9	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179436182T>C	uc010zfg.1	-	275	67197	c.66973A>G	c.(66973-66975)ACC>GCC	p.T22325A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T16020A|TTN_uc010zfi.1_Missense_Mutation_p.T15953A|TTN_uc010zfj.1_Missense_Mutation_p.T15828A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23252							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAGGTAGGTACTCTTCCCA	0.458													C	179436182	T	C	179436182	3	2	189	1	0	0	0	0	1	0	0	0	16732	1638	57	3	33450	3	TTN	2	179436182	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	8465	179436182	63763191	734	98591											
TTN	7273	broad.mit.edu	37	chr2	179440977	179440977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgagtgattctgagggcGgttcctgtggtatcttttat	12	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179440977G>A	uc010zfg.1	-	275	62402	c.62178C>T	c.(62176-62178)ACC>ACT	p.T20726T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14421T|TTN_uc010zfi.1_Silent_p.T14354T|TTN_uc010zfj.1_Silent_p.T14229T|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21653							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGAGGGCGGTTCCTGTGG	0.473													A	179440977	G	A	179440977	2	1	189	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179440977	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4795	179440977	63758396	735	98592											
TTN	7273	broad.mit.edu	37	chr2	179446390	179446390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagttgcacctcacccagTtatcggagtcagcccgtttt	9	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179446390T>C	uc010zfg.1	-	265	59125	c.58901A>G	c.(58900-58902)AAC>AGC	p.N19634S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N13329S|TTN_uc010zfi.1_Missense_Mutation_p.N13262S|TTN_uc010zfj.1_Missense_Mutation_p.N13137S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20561							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCACCCAGTTATCGGAGTC	0.498													C	179446390	T	C	179446390	3	2	189	1	0	0	0	0	1	0	0	0	16732	1725	60	3	41562	3	TTN	2	179446390	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5413	179446390	63752983	736	98593											
TTN	7273	broad.mit.edu	37	chr2	179483496	179483496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcagcttctgctttggggTaggcatcatatggcaccacc	10	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179483496T>C	uc010zfg.1	-	200	39301	c.39077A>G	c.(39076-39078)TAC>TGC	p.Y13026C	TTN_uc010zfh.1_Missense_Mutation_p.Y6721C|TTN_uc010zfi.1_Missense_Mutation_p.Y6654C|TTN_uc010zfj.1_Missense_Mutation_p.Y6529C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13953							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTTGGGGTAGGCATCATA	0.408													C	179483496	T	C	179483496	3	2	189	1	0	0	0	0	1	0	0	0	16732	1638	57	3	61360	3	TTN	2	179483496	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	37106	179483496	63715877	737	98594											
TTN	7273	broad.mit.edu	37	chr2	179497272	179497272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaatgatcagtttgccActtgtgtgcttatcttcagc	7	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179497272A>G	uc010zfg.1	-	184	35981	c.35757T>C	c.(35755-35757)AGT>AGC	p.S11919S	TTN_uc010zfh.1_Silent_p.S5614S|TTN_uc010zfi.1_Silent_p.S5547S|TTN_uc010zfj.1_Silent_p.S5422S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12846							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTTTGCCACTTGTGTGCT	0.333													G	179497272	A	G	179497272	2	3	189	1	0	0	0	0	0	0	0	1	16732	156	6	3		3	TTN	2	179497272	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	13776	179497272	63702101	738	98595											
TTN	7273	broad.mit.edu	37	chr2	179505298	179505298	+	Frame_Shift_Del	DEL	T	T	-													ttcaggaatcttcctttcccTttttgtaacagtaggtactt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179505297_179505297CT>C	uc021vsy.1	-	169	33215	c.32990_32990AG>G	c.(32989-32991)aggfs	p.R10997fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.R4692fs|TTN_uc021vta.1_Frame_Shift_Del_p.R4625fs|TTN_uc021vtb.1_Frame_Shift_Del_p.R4500fs|TTN_uc010fre.1_Frame_Shift_Del_p.R875fs|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Frame_Shift_Del_p.R212fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11924	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)			CTTCCTTTCCCTTTTTGTAAC	0.313													-	179505298	T	-	179505298	7	5	189	1	0	1	0	1	0	0	0	0	16732	1608	56	0	67568	0	TTN	2	179505298	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	8026	179505298	63694075	739	98596											
TTN	7273	broad.mit.edu	37	chr2	179540660	179540660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaatacctttggcaggggGagcctcctctttcttgggaa	12	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179540660G>A	uc010zfg.1	-	144	30846	c.30622C>T	c.(30622-30624)CCC>TCC	p.P10208S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6869S|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11135							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCAGGGGGAGCCTCCTCT	0.363													A	179540660	G	A	179540660	3	1	189	1	0	0	0	0	1	0	0	0	16732	1174	41	4	70039	4	TTN	2	179540660	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	35362	179540660	63658713	740	98597											
TTN	7273	broad.mit.edu	37	chr2	179553404	179553404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgacttccgattatatacCttcgtgccgcgtgacttcca	7	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179553404C>A	uc010zfg.1	-	123	28689	c.28465G>T	c.(28465-28467)GTA>TTA	p.V9489L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6150L|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10416							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTATATACCTTCGTGCCGC	0.393													A	179553404	C	A	179553404	3	1	189	1	0	0	0	0	1	0	0	0	16732	695	24	5	72280	5	TTN	2	179553404	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	12744	179553404	63645969	741	98598											
TTN	7273	broad.mit.edu	37	chr2	179575918	179575918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtattgtctaaaaatgatgTttgtacatttgggctgtctt	9	4	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179575918T>C	uc010zfg.1	-	94	24537	c.24313A>G	c.(24313-24315)ACA>GCA	p.T8105A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4766A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9032							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAATGATGTTTGTACATTT	0.433													C	179575918	T	C	179575918	3	2	189	1	0	0	0	0	1	0	0	0	16732	1725	60	3	76548	3	TTN	2	179575918	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22514	179575918	63623455	742	98599											
TTN	7273	broad.mit.edu	37	chr2	179593250	179593250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcactcttaagtaggcatcaCagctactgcttccgaagtca	8	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179593250C>G	uc010zfg.1	-	63	15895	c.15671G>C	c.(15670-15672)TGT>TCT	p.C5224S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C1885S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6151							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGGCATCACAGCTACTGCT	0.398													G	179593250	C	G	179593250	3	3	189	1	0	0	0	0	1	0	0	0	16732	478	17	5	85314	5	TTN	2	179593250	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	17332	179593250	63606123	743	98600											
TTN	7273	broad.mit.edu	37	chr2	179616447	179616447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctaagctggaagagtgAtggtgtaaatcactctcagc	10	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179616447A>G	uc002unb.2	-	46	10904	c.10680T>C	c.(10678-10680)CAT>CAC	p.H3560H	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGAGTGATGGTGTAAAT	0.413													G	179616447	A	G	179616447	2	3	189	1	0	0	0	0	0	0	0	1	16732	330	12	3		3	TTN	2	179616447	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23197	179616447	63582926	744	98601											
TTN	7273	broad.mit.edu	37	chr2	179640599	179640599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgcttgaatttactgcGcagctcttccgactcttcag	8	13	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179640599G>A	uc010zfg.1	-	28	6216	c.5992C>T	c.(5992-5994)CGC>TGC	p.R1998C	TTN_uc010zfh.1_Missense_Mutation_p.R1952C|TTN_uc010zfi.1_Missense_Mutation_p.R1952C|TTN_uc010zfj.1_Missense_Mutation_p.R1952C|TTN_uc002unb.2_Missense_Mutation_p.R1998C|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1998							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTACTGCGCAGCTCTTCC	0.453													A	179640599	G	A	179640599	3	1	189	1	0	0	0	0	1	0	0	0	16732	1087	38	1	105336	1	TTN	2	179640599	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24152	179640599	63558774	745	98602											
TTN	7273	broad.mit.edu	37	chr2	179659647	179659647	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaccattctgacagtAcctctttagcaccagtggca	6	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179659647A>C	uc010zfg.1	-	7	1469	c.1245_splice	c.e7+1	p.E415_splice	TTN_uc010zfh.1_Splice_Site_p.E415_splice|TTN_uc010zfi.1_Splice_Site_p.E415_splice|TTN_uc010zfj.1_Splice_Site_p.E415_splice|TTN_uc002unb.2_Splice_Site_p.E415_splice|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGACAGTACCTCTTTAGC	0.483													C	179659647	A	C	179659647	5	2	189	1	0	0	0	0	0	0	1	0	16732	405	14	5	110165	5	TTN	2	179659647	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	19048	179659647	63539726	746	98603											
SESTD1	91404	broad.mit.edu	37	chr2	179981458	179981458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtttcttgagcatcatcGcccaatctgatgtgagtctt	8	10	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:179981458G>A	uc002uni.3	-	15	1734	c.1584C>T	c.(1582-1584)GGC>GGT	p.G528G	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	528	Spectrin 3.				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGCATCATCGCCCAATCTGA	0.403													A	179981458	G	A	179981458	2	1	189	1	0	0	0	0	0	0	0	1	14127	1074	38	1		1	SESTD1	2	179981458	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	321811	179981458	63217915	747	98604											
UBE2E3	10477	broad.mit.edu	37	chr2	181927574	181927574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaccaacagagcagaacacGacaggatagccagacagtgg	12	10	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:181927574G>A	uc002unq.1	+	7	802	c.583G>A	c.(583-585)GAC>AAC	p.D195N	UBE2E3_uc002unr.1_Missense_Mutation_p.D195N|UBE2E3_uc010fri.1_Missense_Mutation_p.D195N	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	195					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			ovary(1)	1						AGCAGAACACGACAGGATAGC	0.433													A	181927574	G	A	181927574	3	1	189	1	0	0	0	0	1	0	0	0	16851	1058	37	1	601	1	UBE2E3	2	181927574	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1946116	181927574	61271799	748	98605											
ITGA4	3676	broad.mit.edu	37	chr2	182346369	182346369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcggagccagcatactaccGaagtagtcggaggagctcct	12	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:182346369G>A	uc002unu.2	+	7	1562	c.799G>A	c.(799-801)GAA>AAA	p.E267K	ITGA4_uc010zfl.1_Missense_Mutation_p.E267K	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	267	FG-GAP 4.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCATACTACCGAAGTAGTCGG	0.373													A	182346369	G	A	182346369	3	1	189	1	0	0	0	0	1	0	0	0	7878	1059	37	1	825	1	ITGA4	2	182346369	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	418795	182346369	60853004	749	98606											
ITGA4	3676	broad.mit.edu	37	chr2	182358109	182358109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctatttatatttacaAtggccgtgcagatgggatct	11	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:182358109A>G	uc002unu.2	+	11	1974	c.1211A>G	c.(1210-1212)AAT>AGT	p.N404S		NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	404	FG-GAP 6.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATATTTACAATGGCCGTGCA	0.358													G	182358109	A	G	182358109	3	3	189	1	0	0	0	0	1	0	0	0	7878	101	4	3	1253	3	ITGA4	2	182358109	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11740	182358109	60841264	750	98607											
DNAJC10	54431	broad.mit.edu	37	chr2	183595815	183595815	+	Frame_Shift_Del	DEL	T	T	-													ggtattggctggctgatcacTttttgttcaaaaggaggagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:183595814_183595814CT>C	uc002uow.1	+	8	1200	c.785_785CT>C	c.(784-786)actfs	p.T262fs	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Frame_Shift_Del_p.T262fs|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	262					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|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)			TGGCTGATCACTTTTTGTTCA	0.308													-	183595815	T	-	183595815	7	5	189	1	0	1	0	1	0	0	0	0	4629	1596	56	0	812	0	DNAJC10	2	183595815	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	1237706	183595815	59603558	751	98608											
FRZB	2487	broad.mit.edu	37	chr2	183730857	183730857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacacgcccctgtcgtAcactggcagctcctcgcagg	11	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:183730857A>G	uc002upa.1	-	1	642	c.424T>C	c.(424-426)TAC>CAC	p.Y142H		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	142	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCCCTGTCGTACACTGGCAGC	0.632													G	183730857	A	G	183730857	3	3	189	1	0	0	0	0	1	0	0	0	6065	391	14	3	577	3	FRZB	2	183730857	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	135042	183730857	59468516	752	98609											
NCKAP1	10787	broad.mit.edu	37	chr2	183817966	183817966	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagttttctattgactggagTacggtcatgtatgctcttac	9	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:183817966T>C	uc002upc.2	-	21	2649	c.2247A>G	c.(2245-2247)GTA>GTG	p.V749V	NCKAP1_uc002upb.2_Silent_p.V755V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	749					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGACTGGAGTACGGTCATGT	0.368													C	183817966	T	C	183817966	2	2	189	1	0	0	0	0	0	0	0	1	10221	1625	57	3		3	NCKAP1	2	183817966	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	87109	183817966	59381407	753	98610											
DUSP19	142679	broad.mit.edu	37	chr2	183951825	183951825	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctttcctcagtgactttAcatataagagcatttctata	5	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:183951825A>G	uc002upd.2	+	3	706	c.331A>G	c.(331-333)ACA>GCA	p.T111A	DUSP19_uc010frp.2_Intron|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_Intron	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19 isoform 1	111					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			ovary(4)|pancreas(1)	5						CAGTGACTTTACATATAAGAG	0.313													G	183951825	A	G	183951825	3	3	189	1	0	0	0	0	1	0	0	0	4818	391	14	3	341	3	DUSP19	2	183951825	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	133859	183951825	59247548	754	98611											
ZNF804A	91752	broad.mit.edu	37	chr2	185731181	185731181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaactctgtgacaagcagtActataagcaccaggagtttg	10	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:185731181A>G	uc002uph.2	+	2	791	c.197A>G	c.(196-198)TAC>TGC	p.Y66C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	66	C2H2-type.					intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GACAAGCAGTACTATAAGCAC	0.368													G	185731181	A	G	185731181	3	3	189	1	0	0	0	0	1	0	0	0	18167	391	14	3	203	3	ZNF804A	2	185731181	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1779356	185731181	57468192	755	98612											
ZNF804A	91752	broad.mit.edu	37	chr2	185803661	185803661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttccgttcttcatcctAgccatctggctttcccatct	5	16	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:185803661A>G	uc002uph.2	+	4	4132	c.3538A>G	c.(3538-3540)AGC>GGC	p.S1180G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1180						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TCTTCATCCTAGCCATCTGGC	0.512													G	185803661	A	G	185803661	3	3	189	1	0	0	0	0	1	0	0	0	18167	420	15	3	3552	3	ZNF804A	2	185803661	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	72480	185803661	57395712	756	98613											
ZC3H15	55854	broad.mit.edu	37	chr2	187360023	187360023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtttatcaaggctgtcAcacatcaagttaaatttggt	8	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:187360023A>G	uc002upo.2	+	2	364	c.139A>G	c.(139-141)ACA>GCA	p.T47A		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	erythropoietin 4 immediate early response	47						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAAGGCTGTCACACATCAAGT	0.318													G	187360023	A	G	187360023	3	3	189	1	0	0	0	0	1	0	0	0	17564	159	6	3	145	3	ZC3H15	2	187360023	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1556362	187360023	55839350	757	98614											
FAM171B	165215	broad.mit.edu	37	chr2	187625956	187625956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgctgtactactttgtTattgcaggtaagaaaatggc	9	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:187625956T>C	uc002ups.2	+	7	1241	c.1129T>C	c.(1129-1131)TAT>CAT	p.Y377H	FAM171B_uc002upr.1_Missense_Mutation_p.Y377H|FAM171B_uc002upt.2_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	377	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						ACTACTTTGTTATTGCAGGTA	0.318													C	187625956	T	C	187625956	3	2	189	1	0	0	0	0	1	0	0	0	5491	1754	61	3	1155	3	FAM171B	2	187625956	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	265933	187625956	55573417	758	98615											
COL3A1	1281	broad.mit.edu	37	chr2	189873812	189873812	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaatggatttcaaaatcAacaccgatgagattatgact	6	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:189873812A>G	uc002uqj.1	+	48	3805	c.3688A>G	c.(3688-3690)AAC>GAC	p.N1230D		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1230					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			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTCAAAATCAACACCGATGA	0.458													G	189873812	A	G	189873812	3	3	189	1	0	0	0	0	1	0	0	0	3688	130	5	3	3878	3	COL3A1	2	189873812	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2247856	189873812	53325561	759	98616											
ANKAR	150709	broad.mit.edu	37	chr2	190608058	190608058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacaatgcaaatgctttcCgcatcctattaaaagaatgc	5	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:190608058C>T	uc002uqw.1	+	20	3655	c.3655C>T	c.(3655-3657)CGC>TGC	p.R1219C	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Intron	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1290						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAATGCTTTCCGCATCCTATT	0.358													T	190608058	C	T	190608058	3	4	189	1	0	0	0	0	1	0	0	0	623	652	23	1	3946	1	ANKAR	2	190608058	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	734246	190608058	52591315	760	98617											
SDPR	8436	broad.mit.edu	37	chr2	192700728	192700728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcctcggatgttagcGcgtagctaccctcatagcgt	10	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:192700728G>A	uc002utb.2	-	2	1529	c.1199C>T	c.(1198-1200)GCG>GTG	p.A400V		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	400						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGATGTTAGCGCGTAGCTACC	0.607													A	192700728	G	A	192700728	3	1	189	1	0	0	0	0	1	0	0	0	13970	1087	38	1	82	1	SDPR	2	192700728	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2092670	192700728	50498645	761	98618											
TMEFF2	23671	broad.mit.edu	37	chr2	192818525	192818525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtatagaacactgtagtccTttttttcacagtgttgtcca	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:192818525T>C	uc002utc.2	-	9	1302	c.908A>G	c.(907-909)AAG>AGG	p.K303R		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	303	Required for shedding.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACTGTAGTCCTTTTTTTCACA	0.398													C	192818525	T	C	192818525	3	2	189	1	0	0	0	0	1	0	0	0	16011	1609	56	3	224	3	TMEFF2	2	192818525	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	117797	192818525	50380848	762	98619											
SLC39A10	57181	broad.mit.edu	37	chr2	196593047	196593047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtcactgcaggcatgTtcctctatgtagccttggtg	11	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:196593047T>C	uc002utg.3	+	9	2525	c.2311T>C	c.(2311-2313)TTC>CTC	p.F771L	SLC39A10_uc002uth.3_Missense_Mutation_p.F771L|SLC39A10_uc010zgp.1_Missense_Mutation_p.F321L	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	771	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCAGGCATGTTCCTCTATGT	0.413													C	196593047	T	C	196593047	3	2	189	1	0	0	0	0	1	0	0	0	14613	1725	60	3	2341	3	SLC39A10	2	196593047	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3774522	196593047	46606326	763	98620											
DNAH7	56171	broad.mit.edu	37	chr2	196640613	196640613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcagctgagtttctgacTgatccttagtgatatctgca	9	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:196640613T>C	uc002utj.3	-	60	11260	c.11159A>G	c.(11158-11160)CAG>CGG	p.Q3720R	DNAH7_uc002uti.3_Missense_Mutation_p.Q203R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3720					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGTTTCTGACTGATCCTTAGT	0.468													C	196640613	T	C	196640613	3	2	189	1	0	0	0	0	1	0	0	0	4606	1580	55	3	939	3	DNAH7	2	196640613	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	47566	196640613	46558760	764	98621											
DNAH7	56171	broad.mit.edu	37	chr2	196722321	196722321	+	Frame_Shift_Del	DEL	T	T	-													tgggccccagaaatcctcaaTttttttccctgaacctgttg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:196722320_196722320AT>A	uc002utj.4	-	43	8296	c.8195_8195AT>T	c.(8194-8196)attfs	p.I2732fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2732	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I2732fs*15(1)		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						GAAATCCTCAATTTTTTTCCC	0.433													-	196722321	T	-	196722321	7	5	189	1	0	1	0	1	0	0	0	0	4606	1493	52	0	3968	0	DNAH7	2	196722321	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	81708	196722321	46477052	765	98622											
DNAH7	56171	broad.mit.edu	37	chr2	196746539	196746539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtaatgtaaacacttttccCagttcctgttggtcctacaa	6	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:196746539C>A	uc002utj.3	-	36	6042	c.5941G>T	c.(5941-5943)GGG>TGG	p.G1981W		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1981	AAA 3 (By similarity).|ATP (Potential).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ACACTTTTCCCAGTTCCTGTT	0.363													A	196746539	C	A	196746539	3	1	189	1	0	0	0	0	1	0	0	0	4606	594	21	5	6253	5	DNAH7	2	196746539	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	24218	196746539	46452834	766	98623											
DNAH7	56171	broad.mit.edu	37	chr2	196765042	196765042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtaagaactgacttcacGgctctcattccatagtcgta	8	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:196765042G>A	uc002utj.3	-	28	4613	c.4512C>T	c.(4510-4512)GCC>GCT	p.A1504A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1504	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CTGACTTCACGGCTCTCATTC	0.423													A	196765042	G	A	196765042	2	1	189	1	0	0	0	0	0	0	0	1	4606	1103	39	1		1	DNAH7	2	196765042	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	18503	196765042	46434331	767	98624											
DNAH7	56171	broad.mit.edu	37	chr2	196825620	196825620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttacgttgaggatatAcagatggtagccaaccaaat	8	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:196825620A>G	uc002utj.3	-	18	2356	c.2255T>C	c.(2254-2256)GTA>GCA	p.V752A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	752	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTGAGGATATACAGATGGTAG	0.353													G	196825620	A	G	196825620	3	3	189	1	0	0	0	0	1	0	0	0	4606	391	14	3	10011	3	DNAH7	2	196825620	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	60578	196825620	46373753	768	98625											
STK17B	9262	broad.mit.edu	37	chr2	197004484	197004484	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcccacaaatggtgaTgtgtgagttaacaacatata	7	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:197004484T>C	uc002utk.2	-	7	1020	c.696A>G	c.(694-696)ACA>ACG	p.T232T	STK17B_uc010fsh.2_Silent_p.T232T	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	232	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CAAATGGTGATGTGTGAGTTA	0.303													C	197004484	T	C	197004484	2	2	189	1	0	0	0	0	0	0	0	1	15290	1451	51	3		3	STK17B	2	197004484	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	178864	197004484	46194889	769	98626											
STK17B	9262	broad.mit.edu	37	chr2	197021224	197021224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgaagattaataacacGgggacaagactttgccaatt	8	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:197021224G>A	uc002utk.2	-	3	598	c.274C>T	c.(274-276)CGT>TGT	p.R92C	STK17B_uc010fsh.2_Missense_Mutation_p.R92C	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	92	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TTAATAACACGGGGACAAGAC	0.328													A	197021224	G	A	197021224	3	1	189	1	0	0	0	0	1	0	0	0	15290	1116	39	1	868	1	STK17B	2	197021224	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	16740	197021224	46178149	770	98627											
HECW2	57520	broad.mit.edu	37	chr2	197298107	197298107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcatctggggatttcgaCgcctcacaaaaagcaggtgc	11	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:197298107C>T	uc002utm.1	-	2	224	c.41G>A	c.(40-42)CGT>CAT	p.R14H		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	14					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GGGATTTCGACGCCTCACAAA	0.557													T	197298107	C	T	197298107	3	4	189	1	0	0	0	0	1	0	0	0	7043	536	19	1	4789	1	HECW2	2	197298107	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	276883	197298107	45901266	771	98628											
GTF3C3	9330	broad.mit.edu	37	chr2	197643670	197643670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatctttcagagcaaacaAgagcactgaggaggggaagt	13	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:197643670A>G	uc002uts.2	-	10	1430	c.1340T>C	c.(1339-1341)CTT>CCT	p.L447P	GTF3C3_uc010zgu.1_Intron|GTF3C3_uc002utt.3_Missense_Mutation_p.L122P	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	447	TPR 7.					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						AGAGCAAACAAGAGCACTGAG	0.418													G	197643670	A	G	197643670	3	3	189	1	0	0	0	0	1	0	0	0	6874	72	3	3	1356	3	GTF3C3	2	197643670	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	345563	197643670	45555703	772	98629											
GTF3C3	9330	broad.mit.edu	37	chr2	197662543	197662543	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgacatctttgtcttgGgatttggtagagttaattcc	9	6	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:197662543G>T	uc002uts.2	-	2	282	c.192C>A	c.(190-192)TCC>TCA	p.S64S	GTF3C3_uc010zgu.1_Silent_p.S64S|GTF3C3_uc002utu.2_Silent_p.S64S	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	64						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CTTTGTCTTGGGATTTGGTAG	0.348													T	197662543	G	T	197662543	2	4	189	1	0	0	0	0	0	0	0	1	6874	1219	43	5		5	GTF3C3	2	197662543	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	18873	197662543	45536830	773	98630											
SF3B1	23451	broad.mit.edu	37	chr2	198268397	198268397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgacgctcttgatcctcaAgtgtaggagacatcagcaga	10	9	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:198268397A>G	uc002uue.2	-	12	1679	c.1631T>C	c.(1630-1632)CTT>CCT	p.L544P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	544	Interaction with SF3B14.|HEAT 1.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGATCCTCAAGTGTAGGAGA	0.403													G	198268397	A	G	198268397	3	3	189	1	0	0	0	0	1	0	0	0	14149	72	3	3	2339	3	SF3B1	2	198268397	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	605854	198268397	44930976	774	98631											
MOBKL3	25843	broad.mit.edu	37	chr2	198405143	198405143	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggatttttctttgtgcagcTcataaaactccaaaagaggt	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:198405143T>A	uc002uun.3	+	5	376	c.336T>A	c.(334-336)GCT>GCA	p.A112A	MOBKL3_uc002uum.3_Silent_p.A80A|MOBKL3_uc010fsn.2_Silent_p.A91A|MOBKL3_uc010fso.2_Silent_p.A13A|MOBKL3_uc010zgz.1_Silent_p.A13A	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	112					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0			Epithelial(96;0.225)			TTTGTGCAGCTCATAAAACTC	0.294													A	198405143	T	A	198405143	2	1	189	1	0	0	0	0	0	0	0	1	9687	1538	54	5		5	MOBKL3	2	198405143	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	136746	198405143	44794230	775	98632											
PLCL1	5334	broad.mit.edu	37	chr2	198953591	198953591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcacagaatgcaatcGtgtctattaaggaactatgt	7	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:198953591G>A	uc010fsp.2	+	3	3016	c.2725G>A	c.(2725-2727)GTG>ATG	p.V909M	PLCL1_uc002uuv.3_Missense_Mutation_p.V830M	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	909	Potential.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	GAATGCAATCGTGTCTATTAA	0.453													A	198953591	G	A	198953591	3	1	189	1	0	0	0	0	1	0	0	0	12039	1145	40	1	2735	1	PLCL1	2	198953591	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	548448	198953591	44245782	776	98633											
PLCL1	5334	broad.mit.edu	37	chr2	198968586	198968586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaacttcataatttggggGcaaaagaaggcttgaaggga	13	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:198968586G>T	uc010fsp.2	+	5	3322	c.3031G>T	c.(3031-3033)GCA>TCA	p.A1011S	PLCL1_uc002uuv.3_Missense_Mutation_p.A932S	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	1011					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TAATTTGGGGGCAAAAGAAGG	0.378													T	198968586	G	T	198968586	3	4	189	1	0	0	0	0	1	0	0	0	12039	1203	42	5	3049	5	PLCL1	2	198968586	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	14995	198968586	44230787	777	98634											
SPATS2L	26010	broad.mit.edu	37	chr2	201304024	201304024	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcatcttgaaataAagccagatgagttggcaaag	10	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:201304024A>C	uc002uvn.3	+	7	977	c.625A>C	c.(625-627)AAG>CAG	p.K209Q	SPATS2L_uc010fst.2_Missense_Mutation_p.K209Q|SPATS2L_uc002uvo.3_Missense_Mutation_p.K149Q|SPATS2L_uc002uvp.3_Missense_Mutation_p.K209Q|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Missense_Mutation_p.K209Q|SPATS2L_uc010zhc.1_Missense_Mutation_p.K239Q	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	209						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						TCTTGAAATAAAGCCAGATGA	0.423													C	201304024	A	C	201304024	3	2	189	1	0	0	0	0	1	0	0	0	15019	15	1	5	643	5	SPATS2L	2	201304024	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2335438	201304024	41895349	778	98635											
SPATS2L	26010	broad.mit.edu	37	chr2	201332111	201332111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctggccgaactcaggGcagaaattaaggtcagttct	12	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:201332111G>A	uc002uvn.3	+	10	1298	c.946G>A	c.(946-948)GCA>ACA	p.A316T	SPATS2L_uc010fst.2_Missense_Mutation_p.A316T|SPATS2L_uc002uvo.3_Missense_Mutation_p.A256T|SPATS2L_uc002uvp.3_Missense_Mutation_p.A316T|SPATS2L_uc002uvq.3_Missense_Mutation_p.A247T|SPATS2L_uc002uvr.3_Missense_Mutation_p.A316T|SPATS2L_uc010zhc.1_Missense_Mutation_p.A346T	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	316	Potential.					cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						CGAACTCAGGGCAGAAATTAA	0.473													A	201332111	G	A	201332111	3	1	189	1	0	0	0	0	1	0	0	0	15019	1203	42	2	976	2	SPATS2L	2	201332111	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	28087	201332111	41867262	779	98636											
NDUFB3	4709	broad.mit.edu	37	chr2	201950221	201950221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggtggctttgcaaagagTgtttccttttctgatgtatt	11	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:201950221T>C	uc002uwx.3	+	3	503	c.180T>C	c.(178-180)AGT>AGC	p.S60S		NM_002491	NP_002482	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	TTGCAAAGAGTGTTTCCTTTT	0.358													C	201950221	T	C	201950221	2	2	189	1	0	0	0	0	0	0	0	1	10282	1693	59	3		3	NDUFB3	2	201950221	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	618110	201950221	41249152	780	98637											
STRADB	55437	broad.mit.edu	37	chr2	202344807	202344807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgttgcctcctgcttataAcaagccatcaatatcattgc	5	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:202344807A>G	uc002uyd.3	+	12	1531	c.1166A>G	c.(1165-1167)AAC>AGC	p.N389S		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	389					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			skin(2)|stomach(1)|lung(1)	4						CCTGCTTATAACAAGCCATCA	0.378													G	202344807	A	G	202344807	3	3	189	1	0	0	0	0	1	0	0	0	15324	43	2	3	1208	3	STRADB	2	202344807	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	394586	202344807	40854566	781	98638											
CYP20A1	57404	broad.mit.edu	37	chr2	204161589	204161589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtatgaactggtaacatcAtcaagggaagaagcttggat	11	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:204161589A>G	uc002uzv.3	+	13	1969	c.1347A>G	c.(1345-1347)TCA>TCG	p.S449S	CYP20A1_uc002uzx.3_Silent_p.S347S|CYP20A1_uc010zif.1_Silent_p.S457S|CYP20A1_uc002uzy.3_Silent_p.S347S|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Silent_p.S179S	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	449						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						TGGTAACATCATCAAGGGAAG	0.333													G	204161589	A	G	204161589	2	3	189	1	0	0	0	0	0	0	0	1	4152	204	8	3		3	CYP20A1	2	204161589	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1816782	204161589	39037784	782	98639											
RAPH1	65059	broad.mit.edu	37	chr2	204305798	204305798	+	Frame_Shift_Del	DEL	G	G	-													ggtggtggaacaactccattGgggggtaccaggatctgagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:204305797_204305797TG>T	uc002vad.3	-	13	2341	c.2116_2116CA>A	c.(2116-2118)aatfs	p.N706fs		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	706					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						ACAACTCCATTGGGGGGTACC	0.612													-	204305798	G	-	204305798	7	5	189	1	0	1	0	1	0	0	0	0	13050	1335	47	0	1641	0	RAPH1	2	204305798	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	144209	204305798	38893575	783	98640											
RAPH1	65059	broad.mit.edu	37	chr2	204326092	204326092	+	Frame_Shift_Del	DEL	T	T	-													cctctcatccaccatcattgTtttagaactgtcatcagaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:204326091_204326091GT>G	uc002vad.3	-	5	1076	c.851_851AC>C	c.(850-852)acafs	p.T284fs	RAPH1_uc002vae.3_Frame_Shift_Del_p.T336fs|RAPH1_uc002vaf.3_Frame_Shift_Del_p.T336fs	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	284	Ras-associating.				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						CACCATCATTGTTTTAGAACT	0.408													-	204326092	T	-	204326092	7	5	189	1	0	1	0	1	0	0	0	0	13050	1725	60	0	2945	0	RAPH1	2	204326092	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	20294	204326092	38873281	784	98641											
RAPH1	65059	broad.mit.edu	37	chr2	204354576	204354576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctaactgtgcagtgacgtCgtccaaggagtagctggcat	12	9	1	1	rs145036827	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:204354576C>T	uc002vad.2	-	4	688	c.463G>A	c.(463-465)GAC>AAC	p.D155N	RAPH1_uc002vae.2_Missense_Mutation_p.D155N|RAPH1_uc002vaf.2_Missense_Mutation_p.D155N	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	155					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						GCAGTGACGTCGTCCAAGGAG	0.443													T	204354576	C	T	204354576	3	4	189	1	0	0	0	0	1	0	0	0	13050	884	31	1	3504	1	RAPH1	2	204354576	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	28484	204354576	38844797	785	98642											
NRP2	8828	broad.mit.edu	37	chr2	206580934	206580934	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggtatgactttatcgagaTtcgggatggggacagtgaat	14	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:206580934T>A	uc002vaw.2	+	3	1060	c.269T>A	c.(268-270)ATT>AAT	p.I90N	NRP2_uc002vat.2_Missense_Mutation_p.I90N|NRP2_uc002vau.2_Missense_Mutation_p.I90N|NRP2_uc002vav.2_Missense_Mutation_p.I90N|NRP2_uc002vax.2_Missense_Mutation_p.I90N|NRP2_uc002vay.2_Missense_Mutation_p.I90N|NRP2_uc010fud.2_Missense_Mutation_p.I90N	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	90	Extracellular (Potential).|CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						TTTATCGAGATTCGGGATGGG	0.547													A	206580934	T	A	206580934	3	1	189	1	0	0	0	0	1	0	0	0	10661	1493	52	5	279	5	NRP2	2	206580934	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2226358	206580934	36618439	786	98643											
NRP2	8828	broad.mit.edu	37	chr2	206581054	206581054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcacctccgactacgcccGgcagggggcaggcttctctc	12	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:206581054G>A	uc002vaw.2	+	3	1180	c.389G>A	c.(388-390)CGG>CAG	p.R130Q	NRP2_uc002vat.2_Missense_Mutation_p.R130Q|NRP2_uc002vau.2_Missense_Mutation_p.R130Q|NRP2_uc002vav.2_Missense_Mutation_p.R130Q|NRP2_uc002vax.2_Missense_Mutation_p.R130Q|NRP2_uc002vay.2_Missense_Mutation_p.R130Q|NRP2_uc010fud.2_Missense_Mutation_p.R130Q	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	130	Extracellular (Potential).|CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GACTACGCCCGGCAGGGGGCA	0.612													A	206581054	G	A	206581054	3	1	189	1	0	0	0	0	1	0	0	0	10661	1116	39	1	399	1	NRP2	2	206581054	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	120	206581054	36618319	787	98644											
ZDBF2	57683	broad.mit.edu	37	chr2	207172526	207172526	+	Frame_Shift_Del	DEL	A	A	-													aacaacttcaggaagcggttAaaaaaatagaccaatggaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:207172525_207172525TA>T	uc002vbp.2	+	4	3523	c.3273_3273TA>T	c.(3271-3273)gttfs	p.V1091fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1091							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						AGGAAGCGGTTAAAAAAATAG	0.313													-	207172526	A	-	207172526	7	5	189	1	0	1	0	1	0	0	0	0	17596	363	13	0	3284	0	ZDBF2	2	207172526	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	591472	207172526	36026847	788	98645											
ZDBF2	57683	broad.mit.edu	37	chr2	207173178	207173178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaataaagaaataaatcTtttgagggaggaacatgttt	11	3	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:207173178T>C	uc002vbp.2	+	5	4176	c.3926T>C	c.(3925-3927)CTT>CCT	p.L1309P		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1309							nucleic acid binding|zinc ion binding			ovary(3)	3						GAAATAAATCTTTTGAGGGAG	0.353													C	207173178	T	C	207173178	3	2	189	1	0	0	0	0	1	0	0	0	17596	1609	56	3	3936	3	ZDBF2	2	207173178	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	652	207173178	36026195	789	98646											
ADAM23	8745	broad.mit.edu	37	chr2	207426927	207426927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaactctgaaaaacagTatggtcttccaatggcagtg	8	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:207426927T>C	uc002vbq.2	+	13	1478	c.1255T>C	c.(1255-1257)TAT>CAT	p.Y419H	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	419	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGAAAAACAGTATGGTCTTCC	0.413													C	207426927	T	C	207426927	3	2	189	1	0	0	0	0	1	0	0	0	245	1652	57	3	1305	3	ADAM23	2	207426927	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	253749	207426927	35772446	790	98647											
CCNYL1	151195	broad.mit.edu	37	chr2	208607011	208607011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatttatttacagatttgTtcgtactctttttagtgctg	6	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:208607011T>C	uc002vci.2	+	5	788	c.431T>C	c.(430-432)GTT>GCT	p.V144A	CCNYL1_uc002vch.2_Missense_Mutation_p.V125A	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1 isoform 1	195	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding				0				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TACAGATTTGTTCGTACTCTT	0.338													C	208607011	T	C	208607011	3	2	189	1	0	0	0	0	1	0	0	0	2937	1725	60	3	610	3	CCNYL1	2	208607011	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1180084	208607011	34592362	791	98648											
CRYGC	1420	broad.mit.edu	37	chr2	208994373	208994373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggtggtttcgtagctgCggccctggaaggccctgtcc	15	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:208994373C>T	uc002vco.3	-	2	82	c.44G>A	c.(43-45)CGC>CAC	p.R15H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	15	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TTCGTAGCTGCGGCCCTGGAA	0.522													T	208994373	C	T	208994373	3	4	189	1	0	0	0	0	1	0	0	0	3916	768	27	1	488	1	CRYGC	2	208994373	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	387362	208994373	34205000	792	98649											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	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)		TGGCATCTGCACCCCCCCAGT	0.527													-	209025577	C	-	209025577	7	5	189	1	0	1	0	1	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	31204	209025577	34173796	793	98650											
PIKFYVE	200576	broad.mit.edu	37	chr2	209150475	209150475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagcttgcacatattgTagaaaaatagccttaagtta	7	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:209150475T>C	uc002vcz.2	+	6	797	c.639T>C	c.(637-639)TGT>TGC	p.C213C	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.C213C|PIKFYVE_uc002vcv.2_Silent_p.C116C|PIKFYVE_uc002vcw.2_Silent_p.C213C|PIKFYVE_uc002vcx.2_Silent_p.C127C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	213	FYVE-type.				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			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GCACATATTGTAGAAAAATAG	0.358													C	209150475	T	C	209150475	2	2	189	1	0	0	0	0	0	0	0	1	11924	1644	57	3		3	PIKFYVE	2	209150475	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	124898	209150475	34048898	794	98651											
PIKFYVE	200576	broad.mit.edu	37	chr2	209200094	209200094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatattcattaagcgtcagGccccattaaaagtgtccctt	6	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:209200094G>A	uc002vcz.2	+	25	4365	c.4207G>A	c.(4207-4209)GCC>ACC	p.A1403T	PIKFYVE_uc002vcy.1_Missense_Mutation_p.A1347T	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1403					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			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TAAGCGTCAGGCCCCATTAAA	0.343													A	209200094	G	A	209200094	3	1	189	1	0	0	0	0	1	0	0	0	11924	1203	42	2	4312	2	PIKFYVE	2	209200094	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	49619	209200094	33999279	795	98652											
MAP2	4133	broad.mit.edu	37	chr2	210560125	210560125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgaggctacacaggaCatgaccccctcatccaaagc	7	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:210560125C>T	uc002vde.1	+	7	3479	c.3231C>T	c.(3229-3231)GAC>GAT	p.D1077D	MAP2_uc002vdc.1_Silent_p.D1077D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.D1073D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1077					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CTACACAGGACATGACCCCCT	0.453													T	210560125	C	T	210560125	2	4	189	1	0	0	0	0	0	0	0	1	9235	477	17	4		4	MAP2	2	210560125	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1360031	210560125	32639248	796	98653											
MAP2	4133	broad.mit.edu	37	chr2	210594919	210594919	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaacagattgacagccaaaAgttgaacttcagagagcatg	9	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:210594919A>C	uc002vde.1	+	15	5530	c.5282A>C	c.(5281-5283)AAG>ACG	p.K1761T	MAP2_uc002vdd.1_Missense_Mutation_p.K493T|MAP2_uc002vdf.1_Missense_Mutation_p.K436T|MAP2_uc002vdg.1_Missense_Mutation_p.K405T|MAP2_uc002vdh.1_Missense_Mutation_p.K462T|MAP2_uc002vdi.1_Missense_Mutation_p.K1757T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1761					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	GACAGCCAAAAGTTGAACTTC	0.507													C	210594919	A	C	210594919	3	2	189	1	0	0	0	0	1	0	0	0	9235	72	3	5	5600	5	MAP2	2	210594919	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	34794	210594919	32604454	797	98654											
LANCL1	10314	broad.mit.edu	37	chr2	211319864	211319864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcctgcttctcattgTtcatcttgtgatatagcaca	6	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:211319864T>C	uc010zjh.1	-	4	449	c.374A>G	c.(373-375)AAC>AGC	p.N125S	LANCL1_uc002ved.2_Missense_Mutation_p.N125S|LANCL1_uc010fuq.2_Missense_Mutation_p.N125S	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	125						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CTTCTCATTGTTCATCTTGTG	0.438													C	211319864	T	C	211319864	3	2	189	1	0	0	0	0	1	0	0	0	8620	1725	60	3	853	3	LANCL1	2	211319864	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	724945	211319864	31879509	798	98655											
CPS1	1373	broad.mit.edu	37	chr2	211502472	211502472	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcaaaggagattgggTtctcagataagcagatttca	12	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:211502472T>A	uc002vee.3	+	22	2866	c.2734T>A	c.(2734-2736)TTC>ATC	p.F912I	CPS1_uc010fur.2_Missense_Mutation_p.F918I|CPS1_uc010fus.2_Missense_Mutation_p.F461I	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	912				F -> L (in Ref. 6; CAE45707).	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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGAGATTGGGTTCTCAGATAA	0.408													A	211502472	T	A	211502472	3	1	189	1	0	0	0	0	1	0	0	0	3823	1725	60	5	2842	5	CPS1	2	211502472	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	182608	211502472	31696901	799	98656											
ERBB4	2066	broad.mit.edu	37	chr2	212989574	212989574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacttgcgcaaggctcggTactgctgttccaggtcagag	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:212989574T>C	uc002veg.1	-	2	235	c.137A>G	c.(136-138)TAC>TGC	p.Y46C	ERBB4_uc002veh.1_Missense_Mutation_p.Y46C|ERBB4_uc010zji.1_Missense_Mutation_p.Y46C|ERBB4_uc010zjj.1_Missense_Mutation_p.Y46C|ERBB4_uc010fut.1_Missense_Mutation_p.Y46C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	46	Extracellular (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		CAAGGCTCGGTACTGCTGTTC	0.478										TSP Lung(8;0.080)			C	212989574	T	C	212989574	3	2	189	1	0	0	0	0	1	0	0	0	5209	1638	57	3	3897	3	ERBB4	2	212989574	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1487102	212989574	30209799	800	98657											
ERBB4	2066	broad.mit.edu	37	chr2	212989624	212989624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttattctccgttcctgcAcacactgcaaagacaagaag	7	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:212989624A>G	uc002veg.1	-	2	185	c.87T>C	c.(85-87)TGT>TGC	p.C29C	ERBB4_uc002veh.1_Silent_p.C29C|ERBB4_uc010zji.1_Silent_p.C29C|ERBB4_uc010zjj.1_Silent_p.C29C|ERBB4_uc010fut.1_Silent_p.C29C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	29	Extracellular (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		CCGTTCCTGCACACACTGCAA	0.423										TSP Lung(8;0.080)			G	212989624	A	G	212989624	2	3	189	1	0	0	0	0	0	0	0	1	5209	157	6	3		3	ERBB4	2	212989624	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	50	212989624	30209749	801	98658											
VWC2L	402117	broad.mit.edu	37	chr2	215440456	215440456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagtgaaagtggacgAatgtaacatctgtcattgtc	10	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:215440456A>G	uc002vet.2	+	4	711	c.581A>G	c.(580-582)GAA>GGA	p.E194G	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	194						extracellular region					0						AAAGTGGACGAATGTAACATC	0.448													G	215440456	A	G	215440456	3	3	189	1	0	0	0	0	1	0	0	0	17241	246	9	3	591	3	VWC2L	2	215440456	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2450832	215440456	27758917	802	98659											
ABCA12	26154	broad.mit.edu	37	chr2	215813766	215813766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattagtttttcatacccGgtcttatttctgatcagaat	6	8	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:215813766G>A	uc002vew.2	-	46	7180	c.6960C>T	c.(6958-6960)ACC>ACT	p.T2320T	ABCA12_uc002vev.2_Silent_p.T2002T|ABCA12_uc010zjn.1_Silent_p.T1247T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2320	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TTTCATACCCGGTCTTATTTC	0.333													A	215813766	G	A	215813766	2	1	189	1	0	0	0	0	0	0	0	1	30	1103	39	1		1	ABCA12	2	215813766	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	373310	215813766	27385607	803	98660											
FN1	2335	broad.mit.edu	37	chr2	216240093	216240093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtggtggccaggaaacGcaggttggatggtgcatcaa	18	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:216240093G>A	uc002vfa.2	-	38	6267	c.6001C>T	c.(6001-6003)CGT>TGT	p.R2001C	FN1_uc002vfb.2_Missense_Mutation_p.R1820C|FN1_uc002vfc.2_Missense_Mutation_p.R1820C|FN1_uc002vfd.2_Missense_Mutation_p.R2001C|FN1_uc002vfe.2_Missense_Mutation_p.R1910C|FN1_uc002vff.2_Missense_Mutation_p.R1910C|FN1_uc002vfg.2_Missense_Mutation_p.R1820C|FN1_uc002vfh.2_Missense_Mutation_p.R1820C|FN1_uc002vfi.2_Missense_Mutation_p.R2001C|FN1_uc002vfj.2_Missense_Mutation_p.R1911C|FN1_uc002vez.2_Missense_Mutation_p.R195C|FN1_uc010zjp.1_Missense_Mutation_p.R538C|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.R363C|FN1_uc010fvd.1_Missense_Mutation_p.R92C	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1910	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	GCCAGGAAACGCAGGTTGGAT	0.488													A	216240093	G	A	216240093	3	1	189	1	0	0	0	0	1	0	0	0	5962	1087	38	1	1468	1	FN1	2	216240093	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	426327	216240093	26959280	804	98661											
TNS1	7145	broad.mit.edu	37	chr2	218682425	218682425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccacctggcatggagtActtggagaagtcgggcagag	16	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:218682425A>G	uc002vgt.2	-	24	4716	c.4318T>C	c.(4318-4320)TAC>CAC	p.Y1440H	TNS1_uc002vgr.2_Missense_Mutation_p.Y1427H|TNS1_uc002vgs.2_Missense_Mutation_p.Y1419H|TNS1_uc010zjv.1_Missense_Mutation_p.Y1419H	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1440						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		GGCATGGAGTACTTGGAGAAG	0.498													G	218682425	A	G	218682425	3	3	189	1	0	0	0	0	1	0	0	0	16340	391	14	3	929	3	TNS1	2	218682425	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2442332	218682425	24516948	805	98662											
ZNF142	7701	broad.mit.edu	37	chr2	219508394	219508394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcttctgtttcttctgGctccctgggaagctccaaag	10	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219508394G>A	uc002vin.2	-	8	3281	c.2845C>T	c.(2845-2847)CCA>TCA	p.P949S	ZNF142_uc002vil.2_Missense_Mutation_p.P910S|ZNF142_uc010fvt.2_Missense_Mutation_p.P786S|ZNF142_uc002vim.2_Missense_Mutation_p.P786S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	949					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		GTTTCTTCTGGCTCCCTGGGA	0.557													A	219508394	G	A	219508394	3	1	189	1	0	0	0	0	1	0	0	0	17728	1203	42	2	2230	2	ZNF142	2	219508394	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	825969	219508394	23690979	806	98663											
BCS1L	617	broad.mit.edu	37	chr2	219526551	219526551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgggctctgaatggcGtccctttggctatccacgcc	12	13	1	1	rs143968821		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219526551G>A	uc002vio.2	+	4	948	c.530G>A	c.(529-531)CGT>CAT	p.R177H	ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Missense_Mutation_p.R177H|BCS1L_uc002viq.2_Missense_Mutation_p.R177H|BCS1L_uc010fvu.2_Missense_Mutation_p.R177H|BCS1L_uc010fvv.2_Missense_Mutation_p.R177H|BCS1L_uc002vir.2_Missense_Mutation_p.R177H|BCS1L_uc002vis.2_Missense_Mutation_p.R177H	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	177	Mitochondrial matrix (Potential).				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGAATGGCGTCCCTTTGGC	0.537													A	219526551	G	A	219526551	3	1	189	1	0	0	0	0	1	0	0	0	1389	1145	40	1	540	1	BCS1L	2	219526551	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	18157	219526551	23672822	807	98664											
STK36	27148	broad.mit.edu	37	chr2	219554645	219554645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcctactttgcctgtAccttcaatctggagaggagc	10	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219554645A>G	uc002viu.2	+	13	1890	c.1624A>G	c.(1624-1626)ACC>GCC	p.T542A	STK36_uc002viv.2_Missense_Mutation_p.T542A	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	542					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			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		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)		CTTTGCCTGTACCTTCAATCT	0.488													G	219554645	A	G	219554645	3	3	189	1	0	0	0	0	1	0	0	0	15301	391	14	3	1670	3	STK36	2	219554645	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	28094	219554645	23644728	808	98665											
TTLL4	9654	broad.mit.edu	37	chr2	219602475	219602475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagagtggtccctcaGgcacagtacctgccacgcca	10	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219602475G>T	uc002viy.2	+	3	446	c.76G>T	c.(76-78)GGC>TGC	p.G26C	TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Missense_Mutation_p.G26C	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	26					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		TGGTCCCTCAGGCACAGTACC	0.572													T	219602475	G	T	219602475	3	4	189	1	0	0	0	0	1	0	0	0	16726	1000	35	5	78	5	TTLL4	2	219602475	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	47830	219602475	23596898	809	98666											
TTLL4	9654	broad.mit.edu	37	chr2	219603313	219603313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttgcctcttcctggtAtaaccggaataacttagcca	8	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219603313A>G	uc002viy.2	+	3	1284	c.914A>G	c.(913-915)TAT>TGT	p.Y305C	TTLL4_uc010zkl.1_Missense_Mutation_p.Y140C|TTLL4_uc010fvx.2_Missense_Mutation_p.Y305C	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	305					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		TCTTCCTGGTATAACCGGAAT	0.527													G	219603313	A	G	219603313	3	3	189	1	0	0	0	0	1	0	0	0	16726	449	16	3	916	3	TTLL4	2	219603313	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	838	219603313	23596060	810	98667											
PRKAG3	53632	broad.mit.edu	37	chr2	219694778	219694778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgctcctgcatgaagcGcatgtagatctgggcgccgg	16	10	1	2	rs141188865		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219694778G>A	uc002vjb.1	-	4	575	c.556C>T	c.(556-558)CGC>TGC	p.R186C	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.R186C|PRKAG3_uc010zko.1_Missense_Mutation_p.R182C	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	186					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCATGAAGCGCATGTAGATC	0.617													A	219694778	G	A	219694778	3	1	189	1	0	0	0	0	1	0	0	0	12502	1087	38	1	953	1	PRKAG3	2	219694778	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	91465	219694778	23504595	811	98668											
WNT10A	80326	broad.mit.edu	37	chr2	219746929	219746929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcctccccccggagcccGtgctcaatgccaacacagtg	9	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219746929G>A	uc002vjd.1	+	2	623	c.160G>A	c.(160-162)GTG>ATG	p.V54M		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	54					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			lung(1)|skin(1)	2		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)		CCCGGAGCCCGTGCTCAATGC	0.617													A	219746929	G	A	219746929	3	1	189	1	0	0	0	0	1	0	0	0	17379	1145	40	1	166	1	WNT10A	2	219746929	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	52151	219746929	23452444	812	98669											
CCDC108	255101	broad.mit.edu	37	chr2	219892999	219892999	+	Frame_Shift_Del	DEL	G	G	-													gcatggcatccaggatgtcaGgggggtagagcgtcaggccc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219892998_219892998AG>A	uc002vjl.1	-	11	1860	c.1776_1776CT>T	c.(1774-1776)cctfs	p.P592fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.P35fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.P581fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.P527fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	592						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)		CCAGGATGTCAGGGGGGTAGA	0.622													-	219892999	G	-	219892999	7	5	189	1	0	1	0	1	0	0	0	0	2743	1000	35	0	4098	0	CCDC108	2	219892999	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	146070	219892999	23306374	813	98670											
NHEJ1	79840	broad.mit.edu	37	chr2	219942915	219942915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcaccaatgctgcatGcctctggcagtttctgtaag	8	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:219942915G>A	uc002vjp.3	-	6	748	c.602C>T	c.(601-603)GCA>GTA	p.A201V	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	201					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			lung(1)	1		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)		AATGCTGCATGCCTCTGGCAG	0.483								Direct_reversal_of_damage|NHEJ					A	219942915	G	A	219942915	3	1	189	1	0	0	0	0	1	0	0	0	10402	1319	46	2	309	2	NHEJ1	2	219942915	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	49916	219942915	23256458	814	98671											
ABCB6	10058	broad.mit.edu	37	chr2	220075831	220075831	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggagagaggcctgggtcacCtagggccaaaagaccacaca	13	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220075831C>A	uc002vkc.1	-	15	2246	c.1969_splice	c.e15-1	p.V657_splice	ABCB6_uc010fwe.1_Splice_Site_p.V611_splice	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6						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)	2		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)		CCTGGGTCACCTAGGGCCAAA	0.423													A	220075831	C	A	220075831	5	1	189	1	0	0	0	0	0	0	1	0	45	695	24	5	580	5	ABCB6	2	220075831	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	132916	220075831	23123542	815	98672											
ABCB6	10058	broad.mit.edu	37	chr2	220078187	220078187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttcagcaagtcaaAcatgttctccatgtcaatga	5	12	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220078187A>G	uc002vkc.1	-	11	1970	c.1693T>C	c.(1693-1695)TTT>CTT	p.F565L	ABCB6_uc010fwe.1_Missense_Mutation_p.F519L	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	565					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)	2		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)		AGCAAGTCAAACATGTTCTCC	0.478													G	220078187	A	G	220078187	3	3	189	1	0	0	0	0	1	0	0	0	45	43	2	3	871	3	ABCB6	2	220078187	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2356	220078187	23121186	816	98673											
ABCB6	10058	broad.mit.edu	37	chr2	220080754	220080754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactggatgtgccccgatcCgcgatccgcagcacctcccc	9	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220080754C>T	uc002vkc.1	-	5	1396	c.1119G>A	c.(1117-1119)GCG>GCA	p.A373A	ABCB6_uc010fwe.1_Silent_p.A327A|ABCB6_uc010zku.1_Intron	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	373	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		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)		TGCCCCGATCCGCGATCCGCA	0.682													T	220080754	C	T	220080754	2	4	189	1	0	0	0	0	0	0	0	1	45	639	23	1		1	ABCB6	2	220080754	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2567	220080754	23118619	817	98674											
SPEG	10290	broad.mit.edu	37	chr2	220309422	220309422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatgtgcagggaacccagCgcctggagcttcgggatgac	16	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220309422C>T	uc010fwg.2	+	2	436	c.436C>T	c.(436-438)CGC>TGC	p.R146C	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	146					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		GGGAACCCAGCGCCTGGAGCT	0.627													T	220309422	C	T	220309422	3	4	189	1	0	0	0	0	1	0	0	0	15035	768	27	1	442	1	SPEG	2	220309422	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	228668	220309422	22889951	818	98675											
SPEG	10290	broad.mit.edu	37	chr2	220333749	220333749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtatgtagaagagccccGgacagccgcctcaggcccca	12	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220333749G>A	uc010fwg.2	+	12	3470	c.3470G>A	c.(3469-3471)CGG>CAG	p.R1157Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1157					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		GAAGAGCCCCGGACAGCCGCC	0.687													A	220333749	G	A	220333749	3	1	189	1	0	0	0	0	1	0	0	0	15035	1116	39	1	3528	1	SPEG	2	220333749	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24327	220333749	22865624	819	98676											
OBSL1	23363	broad.mit.edu	37	chr2	220416496	220416496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttctcgcgaggggggTggcggcacatctggagaggc	19	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220416496T>C	uc010fwk.2	-	20	5495	c.5438A>G	c.(5437-5439)CAC>CGC	p.H1813R	hsa-mir-3132|MI0014152_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1813	Ig-like 14.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		GCGAGGGGGGTGGCGGCACAT	0.692													C	220416496	T	C	220416496	3	2	189	1	0	0	0	0	1	0	0	0	10813	1696	59	3	260	3	OBSL1	2	220416496	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	82747	220416496	22782877	820	98677											
OBSL1	23363	broad.mit.edu	37	chr2	220428124	220428124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatctccagcgacgcacTgaaactcgcccccgtctgag	8	17	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220428124T>C	uc010fwk.2	-	7	2690	c.2633A>G	c.(2632-2634)CAG>CGG	p.Q878R	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.Q353R|OBSL1_uc002vmi.2_Missense_Mutation_p.Q878R|OBSL1_uc002vmj.2_Missense_Mutation_p.Q465R	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	878	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		AGCGACGCACTGAAACTCGCC	0.667													C	220428124	T	C	220428124	3	2	189	1	0	0	0	0	1	0	0	0	10813	1580	55	3	3269	3	OBSL1	2	220428124	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11628	220428124	22771249	821	98678											
STK11IP	114790	broad.mit.edu	37	chr2	220476719	220476719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtggaccaccgactccGgctcttcctggatgttgagg	12	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220476719G>A	uc002vml.2	+	19	2454	c.2411G>A	c.(2410-2412)CGG>CAG	p.R804Q		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	804					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		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)		CACCGACTCCGGCTCTTCCTG	0.652													A	220476719	G	A	220476719	3	1	189	1	0	0	0	0	1	0	0	0	15287	1116	39	1	2485	1	STK11IP	2	220476719	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	48595	220476719	22722654	822	98679											
SLC4A3	6508	broad.mit.edu	37	chr2	220502890	220502890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcccctctcaaggctcGtcgcatcatcggggactttg	11	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220502890G>A	uc002vmp.3	+	18	3040	c.2771G>A	c.(2770-2772)CGT>CAT	p.R924H	SLC4A3_uc002vmo.3_Missense_Mutation_p.R951H|SLC4A3_uc010fwm.2_Missense_Mutation_p.R474H	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	924	Cytoplasmic (Potential).|Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		CTCAAGGCTCGTCGCATCATC	0.602													A	220502890	G	A	220502890	3	1	189	1	0	0	0	0	1	0	0	0	14655	1145	40	1	2918	1	SLC4A3	2	220502890	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	26171	220502890	22696483	823	98680											
SLC4A3	6508	broad.mit.edu	37	chr2	220503505	220503505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacccctgggcagtgcccgTcctttcccgccgtggatgat	11	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:220503505T>C	uc002vmp.3	+	19	3206	c.2937T>C	c.(2935-2937)CGT>CGC	p.R979R	SLC4A3_uc002vmo.3_Silent_p.R1006R|SLC4A3_uc010fwm.2_Silent_p.R529R	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	979	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		GCAGTGCCCGTCCTTTCCCGC	0.607													C	220503505	T	C	220503505	2	2	189	1	0	0	0	0	0	0	0	1	14655	1654	58	3		3	SLC4A3	2	220503505	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	615	220503505	22695868	824	98681											
EPHA4	2043	broad.mit.edu	37	chr2	222298873	222298873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacttacatcttgattggAcatatcccaatagggcctct	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:222298873A>G	uc002vmq.2	-	14	2527	c.2485T>C	c.(2485-2487)TCC>CCC	p.S829P	EPHA4_uc002vmr.2_Missense_Mutation_p.S829P|EPHA4_uc010zlm.1_Missense_Mutation_p.S770P|EPHA4_uc010zln.1_Missense_Mutation_p.S829P	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	829	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		TCTTGATTGGACATATCCCAA	0.413													G	222298873	A	G	222298873	3	3	189	1	0	0	0	0	1	0	0	0	5169	275	10	3	491	3	EPHA4	2	222298873	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1795368	222298873	20900500	825	98682											
EPHA4	2043	broad.mit.edu	37	chr2	222428898	222428898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttgtctgattcatagtAgtacaggttaaacgtctcct	9	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:222428898A>G	uc002vmq.2	-	3	418	c.376T>C	c.(376-378)TAC>CAC	p.Y126H	EPHA4_uc002vmr.2_Missense_Mutation_p.Y126H|EPHA4_uc010zlm.1_Missense_Mutation_p.Y67H|EPHA4_uc010zln.1_Missense_Mutation_p.Y126H	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	126	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		GATTCATAGTAGTACAGGTTA	0.458													G	222428898	A	G	222428898	3	3	189	1	0	0	0	0	1	0	0	0	5169	420	15	3	2644	3	EPHA4	2	222428898	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	130025	222428898	20770475	826	98683											
WDFY1	57590	broad.mit.edu	37	chr2	224763705	224763705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgagggttgtgatgactgAacacgtgttctgttcaagct	12	6	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:224763705A>G	uc002vnq.2	-	6	619	c.568T>C	c.(568-570)TCA>CCA	p.S190P		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	190	WD 4.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		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)		GTGATGACTGAACACGTGTTC	0.418													G	224763705	A	G	224763705	3	3	189	1	0	0	0	0	1	0	0	0	17265	246	9	3	692	3	WDFY1	2	224763705	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2334807	224763705	18435668	827	98684											
DOCK10	55619	broad.mit.edu	37	chr2	225740890	225740890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgccagcacaaaataggTcagatcattcattttcaatt	6	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:225740890T>C	uc010fwz.1	-	8	1035	c.796A>G	c.(796-798)ACC>GCC	p.T266A	DOCK10_uc002vob.2_Missense_Mutation_p.T260A|DOCK10_uc002vod.1_Missense_Mutation_p.T266A	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	266	PH.						GTP binding			ovary(2)	2		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)		ACAAAATAGGTCAGATCATTC	0.398													C	225740890	T	C	225740890	3	2	189	1	0	0	0	0	1	0	0	0	4685	1667	58	3	5960	3	DOCK10	2	225740890	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	977185	225740890	17458483	828	98685											
IRS1	3667	broad.mit.edu	37	chr2	227662352	227662352	+	Frame_Shift_Del	DEL	G	G	-													tggagcggctgtggttgagcGgggggtgcagccgggcgctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:227662351_227662351CG>C	uc021vxn.1	-	0	1104	c.1104_1104CG>G	c.(1102-1104)ccgfs	p.P368fs	IRS1_uc002voh.4_Frame_Shift_Del_p.P368fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	368	Ser-rich.				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	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C 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)		TGTGGTTGAGCGGGGGGTGCA	0.706											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	227662352	G	-	227662352	7	5	189	1	0	1	0	1	0	0	0	0	7840	1116	39	0	2629	0	IRS1	2	227662352	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1921462	227662352	15537021	829	98686											
COL4A3	1285	broad.mit.edu	37	chr2	228121099	228121099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccctgggttaatgggtgAagatggcattaaggtaatcc	12	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:228121099A>G	uc002vom.1	+	17	1136	c.974A>G	c.(973-975)GAA>GGA	p.E325G	COL4A3_uc002von.1_Missense_Mutation_p.E325G|COL4A3_uc002voo.1_Missense_Mutation_p.E325G|COL4A3_uc002vop.1_Missense_Mutation_p.E325G|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	325	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			skin(2)|ovary(1)	3		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)		TTAATGGGTGAAGATGGCATT	0.448													G	228121099	A	G	228121099	3	3	189	1	0	0	0	0	1	0	0	0	3691	246	9	3	1040	3	COL4A3	2	228121099	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	458747	228121099	15078274	830	98687											
COL4A3	1285	broad.mit.edu	37	chr2	228125809	228125809	+	Frame_Shift_Del	DEL	C	C	-													tattcccaggtcccagtggtCcccccggagttcctggaagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:228125808_228125808TC>T	uc002vom.2	+	19	1287	c.1125_1125TC>T	c.(1123-1125)ggtfs	p.G375fs	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	375	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)		GTCCCAGTGGTCCCCCCGGAG	0.388													-	228125809	C	-	228125809	7	5	189	1	0	1	0	1	0	0	0	0	3691	855	30	0	1204	0	COL4A3	2	228125809	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	4710	228125809	15073564	831	98688											
SLC19A3	80704	broad.mit.edu	37	chr2	228552887	228552887	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtattgcagcttacctgaaTgctgactggcaagttgagcc	11	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:228552887T>A	uc002vpi.2	-	5	1398	c.1309A>T	c.(1309-1311)ATT>TTT	p.I437F	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.I433F	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	437	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		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)	CTTACCTGAATGCTGACTGGC	0.383													A	228552887	T	A	228552887	3	1	189	1	0	0	0	0	1	0	0	0	14430	1464	51	5	189	5	SLC19A3	2	228552887	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	427078	228552887	14646486	832	98689											
SLC19A3	80704	broad.mit.edu	37	chr2	228563875	228563875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggtaggaaaagtgagaAaaggaaagccacggagacag	14	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:228563875A>G	uc002vpi.2	-	3	645	c.556T>C	c.(556-558)TTC>CTC	p.F186L	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.F182L	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	186	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		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)	AAAAGTGAGAAAAGGAAAGCC	0.458													G	228563875	A	G	228563875	3	3	189	1	0	0	0	0	1	0	0	0	14430	14	1	3	950	3	SLC19A3	2	228563875	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	10988	228563875	14635498	833	98690											
SPHKAP	80309	broad.mit.edu	37	chr2	228973586	228973586	+	Frame_Shift_Del	DEL	T	T	-													cttgtcttctacaaaaccaaTttggcagggcatcctctgat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:228973585_228973585AT>A	uc002vpq.2	-	2	256	c.209_209AT>T	c.(208-210)attfs	p.I70fs	SPHKAP_uc002vpp.2_Frame_Shift_Del_p.I70fs|SPHKAP_uc010zlx.1_Frame_Shift_Del_p.I70fs	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	70						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)		TACAAAACCAATTTGGCAGGG	0.458													-	228973586	T	-	228973586	7	5	189	1	0	1	0	1	0	0	0	0	15047	1493	52	0	4934	0	SPHKAP	2	228973586	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	409711	228973586	14225787	834	98691											
TRIP12	9320	broad.mit.edu	37	chr2	230683187	230683187	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaagctgttgactttcatCactggcttgcaatccttgta	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:230683187C>T	uc002vpw.1	-	8	1457	c.1348G>A	c.(1348-1350)GAT>AAT	p.D450N	TRIP12_uc002vpx.1_Missense_Mutation_p.D498N|TRIP12_uc002vpy.1_Missense_Mutation_p.D153N|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.D456N	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	450					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		TGACTTTCATCACTGGCTTGC	0.368													T	230683187	C	T	230683187	3	4	189	1	0	0	0	0	1	0	0	0	16553	826	29	4	4766	4	TRIP12	2	230683187	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1709601	230683187	12516186	835	98692											
TRIP12	9320	broad.mit.edu	37	chr2	230723955	230723955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttcttttctgactcCgtgaaccgccagtggcccca	7	15	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:230723955C>T	uc002vpw.1	-	3	543	c.434G>A	c.(433-435)CGG>CAG	p.R145Q	TRIP12_uc002vpx.1_Missense_Mutation_p.R187Q|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.R145Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	145					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		TTTCTGACTCCGTGAACCGCC	0.483													T	230723955	C	T	230723955	3	4	189	1	0	0	0	0	1	0	0	0	16553	652	23	1	5700	1	TRIP12	2	230723955	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	40768	230723955	12475418	836	98693											
SP140L	93349	broad.mit.edu	37	chr2	231254679	231254679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggattttcaggctccttTacttccagtgacctgtggtg	11	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:231254679T>C	uc010fxm.1	+	11	996	c.905T>C	c.(904-906)TTA>TCA	p.L302S	SP140L_uc010fxo.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	302	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1						CAGGCTCCTTTACTTCCAGTG	0.423													C	231254679	T	C	231254679	3	2	189	1	0	0	0	0	1	0	0	0	14963	1764	61	3	947	3	SP140L	2	231254679	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	530724	231254679	11944694	837	98694											
SP100	6672	broad.mit.edu	37	chr2	231331847	231331847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagtgataggacaagAccacgacttttcagaatcca	8	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:231331847A>G	uc002vqt.2	+	13	1349	c.1208A>G	c.(1207-1209)GAC>GGC	p.D403G	SP100_uc002vqs.2_Missense_Mutation_p.D403G|SP100_uc002vqu.1_Missense_Mutation_p.D403G|SP100_uc002vqq.1_Missense_Mutation_p.D403G|SP100_uc002vqr.1_Missense_Mutation_p.D378G|SP100_uc010zmc.1_Missense_Mutation_p.D378G|SP100_uc002vqv.1_Missense_Mutation_p.D367G	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	403					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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		ATAGGACAAGACCACGACTTT	0.483													G	231331847	A	G	231331847	3	3	189	1	0	0	0	0	1	0	0	0	14960	275	10	3	1258	3	SP100	2	231331847	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	77168	231331847	11867526	838	98695											
PSMD1	5707	broad.mit.edu	37	chr2	231941799	231941799	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgattaaaattttaagtggtGaaatggctattgagttacat	9	2	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:231941799G>A	uc002vrn.1	+	9	1125	c.994G>A	c.(994-996)GAA>AAA	p.E332K	PSMD1_uc002vrm.1_Missense_Mutation_p.E332K|PSMD1_uc010fxu.1_Missense_Mutation_p.E196K	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	332					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			ovary(1)|skin(1)	2		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)	TTTAAGTGGTGAAATGGCTAT	0.299													A	231941799	G	A	231941799	3	1	189	1	0	0	0	0	1	0	0	0	12692	1291	45	4	1028	4	PSMD1	2	231941799	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	609952	231941799	11257574	839	98696											
HTR2B	3357	broad.mit.edu	37	chr2	231973323	231973323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgatgaagactgaatggTtgaacttcggagcctcattg	12	6	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:231973323T>C	uc002vro.2	-	4	1859	c.1354A>G	c.(1354-1356)ACC>GCC	p.T452A	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.T385A	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	452	Cytoplasmic (By similarity).			T -> P (in Ref. 2; CAA85319).	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				0		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)	GACTGAATGGTTGAACTTCGG	0.403													C	231973323	T	C	231973323	3	2	189	1	0	0	0	0	1	0	0	0	7442	1725	60	3	95	3	HTR2B	2	231973323	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	31524	231973323	11226050	840	98697											
HTR2B	3357	broad.mit.edu	37	chr2	231973661	231973661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatatttgtaataaagaagGgacaccacataagcaaaaag	7	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:231973661G>T	uc002vro.2	-	4	1521	c.1016C>A	c.(1015-1017)CCC>CAC	p.P339H	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.P272H	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	339	Helical; Name=6; (By similarity).				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				0		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)	AATAAAGAAGGGACACCACAT	0.393													T	231973661	G	T	231973661	3	4	189	1	0	0	0	0	1	0	0	0	7442	1232	43	5	433	5	HTR2B	2	231973661	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	338	231973661	11225712	841	98698											
DIS3L2	129563	broad.mit.edu	37	chr2	233194613	233194613	+	Frame_Shift_Del	DEL	C	C	-													caggccctgctgcgccggcaCcccccgccccaaacaaggat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:233194612_233194612AC>A	uc010fxz.3	+	14	2105	c.1829_1829AC>A	c.(1828-1830)cacfs	p.H610fs	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	610							RNA binding|exonuclease activity|ribonuclease activity			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)		CTGCGCCGGCACCCCCCGCCC	0.642													-	233194613	C	-	233194613	7	5	189	1	0	1	0	1	0	0	0	0	4537	506	18	0	1884	0	DIS3L2	2	233194613	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	1220952	233194613	10004760	842	98699											
EFHD1	80303	broad.mit.edu	37	chr2	233527579	233527579	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatggagaagctggggGccccccagacccacctgggc	15	13	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:233527579G>C	uc002vtc.2	+	2	578	c.370G>C	c.(370-372)GCC>CCC	p.A124P	EFHD1_uc010fyf.2_Missense_Mutation_p.A28P|EFHD1_uc002vtd.2_Missense_Mutation_p.A12P	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	124	EF-hand 1.						calcium ion binding|protein binding				0		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAAGCTGGGGGCCCCCCAGAC	0.602													C	233527579	G	C	233527579	3	2	189	1	0	0	0	0	1	0	0	0	4948	1203	42	5	376	5	EFHD1	2	233527579	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	332966	233527579	9671794	843	98700											
GIGYF2	26058	broad.mit.edu	37	chr2	233620987	233620987	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcgattgacaggacgaGgaggaggaggaacagtggtg	18	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:233620987G>C	uc002vti.3	+	8	659	c.322G>C	c.(322-324)GGA>CGA	p.G108R	GIGYF2_uc010zmj.1_Missense_Mutation_p.G108R|GIGYF2_uc002vtg.2_Missense_Mutation_p.G108R|GIGYF2_uc002vtj.3_Missense_Mutation_p.G108R|GIGYF2_uc002vtk.3_Missense_Mutation_p.G108R|GIGYF2_uc002vth.3_Missense_Mutation_p.G108R|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	108	Poly-Gly.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		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)		GACAGGACGAGGAGGAGGAGG	0.398													C	233620987	G	C	233620987	3	2	189	1	0	0	0	0	1	0	0	0	6378	1001	35	5	336	5	GIGYF2	2	233620987	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	93408	233620987	9578386	844	98701											
NEU2	4759	broad.mit.edu	37	chr2	233897415	233897415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgcagaaggagagcGtgttccagtcgggagcccat	14	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:233897415G>A	uc010zmn.1	+	1	34	c.34G>A	c.(34-36)GTG>ATG	p.V12M		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	12							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GAAGGAGAGCGTGTTCCAGTC	0.622													A	233897415	G	A	233897415	3	1	189	1	0	0	0	0	1	0	0	0	10342	1145	40	1	36	1	NEU2	2	233897415	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	276428	233897415	9301958	845	98702											
UGT1A1	54658	broad.mit.edu	37	chr2	234590941	234590941	+	Frame_Shift_Del	DEL	T	T	-													ccaatggtatttttgacttaTttttttcaaattgcaggagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:234590940_234590940AT>A	uc002vut.3	+	0	357	c.357_357AT>A	c.(355-357)ttafs	p.L119fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Frame_Shift_Del_p.L119fs	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	122					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)	TTTTTGACTTATTTTTTTCAA	0.388													-	234590941	T	-	234590941	7	5	189	1	0	1	0	1	0	0	0	0	16941	1493	52	0		0	UGT1A1	2	234590941	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	693526	234590941	8608432	846	98703											
AGAP1	116987	broad.mit.edu	37	chr2	236649676	236649676	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgatcagagatgaaggggGccccccggaggcgcaggtga	18	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:236649676G>C	uc002vvs.2	+	4	975	c.380G>C	c.(379-381)GGC>GCC	p.G127A	AGAP1_uc002vvt.2_Missense_Mutation_p.G127A	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GATGAAGGGGGCCCCCCGGAG	0.488													C	236649676	G	C	236649676	3	2	189	1	0	0	0	0	1	0	0	0	366	1203	42	5	394	5	AGAP1	2	236649676	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2058735	236649676	6549697	847	98704											
COL6A3	1293	broad.mit.edu	37	chr2	238257297	238257297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccaactccgtctctccCgtcatctccctaagagtggg	8	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:238257297C>T	uc002vwl.2	-	29	7174	c.6889G>A	c.(6889-6891)GGG>AGG	p.G2297R	COL6A3_uc002vwo.2_Missense_Mutation_p.G2091R|COL6A3_uc010znj.1_Missense_Mutation_p.G1690R|COL6A3_uc002vwp.1_Missense_Mutation_p.G118R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2297	Triple-helical region.|Collagen-like 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CCGTCTCTCCCGTCATCTCCC	0.562													T	238257297	C	T	238257297	3	4	189	1	0	0	0	0	1	0	0	0	3701	652	23	1	2708	1	COL6A3	2	238257297	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1607621	238257297	4942076	848	98705											
COL6A3	1293	broad.mit.edu	37	chr2	238287506	238287506	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcttgcaaataggagTcctcagactgcccagctgtg	12	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:238287506T>A	uc002vwl.2	-	6	2555	c.2270A>T	c.(2269-2271)GAC>GTC	p.D757V	COL6A3_uc002vwo.2_Missense_Mutation_p.D551V|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.D551V|COL6A3_uc002vwr.2_Missense_Mutation_p.D350V|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	757	VWFA 4.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CAAATAGGAGTCCTCAGACTG	0.572													A	238287506	T	A	238287506	3	1	189	1	0	0	0	0	1	0	0	0	3701	1667	58	5	7466	5	COL6A3	2	238287506	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	30209	238287506	4911867	849	98706											
COL6A3	1293	broad.mit.edu	37	chr2	238303834	238303834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatattatatcagcagccgcAccatttttgacatctttaaa	4	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:238303834A>G	uc002vwl.2	-	3	390	c.105T>C	c.(103-105)GGT>GGC	p.G35G	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.G35G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	35	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CAGCAGCCGCACCATTTTTGA	0.338													G	238303834	A	G	238303834	2	3	189	1	0	0	0	0	0	0	0	1	3701	146	6	3		3	COL6A3	2	238303834	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	16328	238303834	4895539	850	98707											
RBM44	375316	broad.mit.edu	37	chr2	238725821	238725821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcagtgagtcaagatActaacacagagagtactcag	8	7	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:238725821A>G	uc002vxi.3	+	3	394	c.262A>G	c.(262-264)ACT>GCT	p.T88A		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	87							nucleotide binding|RNA binding			ovary(4)	4		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)		GAGTCAAGATACTAACACAGA	0.328													G	238725821	A	G	238725821	3	3	189	1	0	0	0	0	1	0	0	0	13138	391	14	3	268	3	RBM44	2	238725821	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	421987	238725821	4473552	851	98708											
UBE2F	140739	broad.mit.edu	37	chr2	238925217	238925217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgatagatgagggttActaccagggtggaaaatttc	11	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:238925217A>G	uc002vxk.2	+	5	315	c.224A>G	c.(223-225)TAC>TGC	p.Y75C	UBE2F_uc010znn.1_Missense_Mutation_p.Y43C|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_Intron|UBE2F_uc010znp.1_Missense_Mutation_p.Y75C|SCLY_uc002vxm.3_Intron	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	75					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		GATGAGGGTTACTACCAGGGT	0.373													G	238925217	A	G	238925217	3	3	189	1	0	0	0	0	1	0	0	0	16852	391	14	3	238	3	UBE2F	2	238925217	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	199396	238925217	4274156	852	98709											
SCLY	51540	broad.mit.edu	37	chr2	238990408	238990408	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaggtggacgacatcctCgcggcagtccgcccgaccac	13	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:238990408C>T	uc010fyv.2	+	5	607	c.543C>T	c.(541-543)CTC>CTT	p.L181L	SCLY_uc002vxm.3_Silent_p.L148L|SCLY_uc002vxn.2_Silent_p.L181L|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Silent_p.L87L	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	selenocysteine lyase	181					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			ovary(2)	2		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)		ACGACATCCTCGCGGCAGTCC	0.562													T	238990408	C	T	238990408	2	4	189	1	0	0	0	0	0	0	0	1	13907	871	31	1		1	SCLY	2	238990408	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	65191	238990408	4208965	853	98710											
PER2	8864	broad.mit.edu	37	chr2	239181712	239181712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcggaaagaggcttacgGcattcttcacaatgtgctca	10	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:239181712G>A	uc002vyc.2	-	5	806	c.569C>T	c.(568-570)GCC>GTC	p.A190V	PER2_uc010znv.1_Missense_Mutation_p.A190V|PER2_uc010znw.1_Missense_Mutation_p.A190V|PER2_uc010fyx.1_Missense_Mutation_p.A190V	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	190	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		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)		GAGGCTTACGGCATTCTTCAC	0.572													A	239181712	G	A	239181712	3	1	189	1	0	0	0	0	1	0	0	0	11730	1217	42	2	3274	2	PER2	2	239181712	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	191304	239181712	4017661	854	98711											
GPC1	2817	broad.mit.edu	37	chr2	241404053	241404053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccatggtgctcatcaccGacaagttctggggtacatcg	10	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:241404053G>A	uc002vyw.3	+	5	1125	c.904G>A	c.(904-906)GAC>AAC	p.D302N		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	302					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		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)		GCTCATCACCGACAAGTTCTG	0.617													A	241404053	G	A	241404053	3	1	189	1	0	0	0	0	1	0	0	0	6597	1058	37	1	922	1	GPC1	2	241404053	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2222341	241404053	1795320	855	98712											
ANKMY1	51281	broad.mit.edu	37	chr2	241465157	241465157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaaggactgggcggggTagtggaggaggaaacacatg	19	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:241465157T>C	uc002vyz.1	-	6	1242	c.1013A>G	c.(1012-1014)TAC>TGC	p.Y338C	ANKMY1_uc002vza.1_Missense_Mutation_p.Y197C|ANKMY1_uc010fzd.1_Missense_Mutation_p.Y427C|ANKMY1_uc002vzb.1_Missense_Mutation_p.Y197C|ANKMY1_uc002vzc.1_Missense_Mutation_p.Y197C|ANKMY1_uc002vzd.1_Missense_Mutation_p.Y197C|ANKMY1_uc010fze.1_Missense_Mutation_p.Y7C|ANKMY1_uc002vze.2_Missense_Mutation_p.Y99C	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	338							zinc ion binding			central_nervous_system(1)	1		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)		CTGGGCGGGGTAGTGGAGGAG	0.582													C	241465157	T	C	241465157	3	2	189	1	0	0	0	0	1	0	0	0	634	1638	57	3	1860	3	ANKMY1	2	241465157	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	61104	241465157	1734216	856	98713											
HDLBP	3069	broad.mit.edu	37	chr2	242181959	242181959	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataacaacggtgtcgcttccTgaaccttccacgggaaagtg	10	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:242181959T>C	uc002waz.2	-	17	2313	c.2085A>G	c.(2083-2085)TCA>TCG	p.S695S	HDLBP_uc002wba.2_Silent_p.S695S|HDLBP_uc002wbb.2_Silent_p.S647S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	695	KH 8.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		TGTCGCTTCCTGAACCTTCCA	0.602													C	242181959	T	C	242181959	2	2	189	1	0	0	0	0	0	0	0	1	7025	1567	55	3		3	HDLBP	2	242181959	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	716802	242181959	1017414	857	98714											
HDLBP	3069	broad.mit.edu	37	chr2	242187454	242187454	+	Frame_Shift_Del	DEL	T	T	-													ttctgcatgtattttgtgcaTttttccacctcattcttagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:242187453_242187453AT>A	uc002waz.3	-	13	1869	c.1696_1696AT>T	c.(1696-1698)tgcfs	p.C566fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.C566fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.C533fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	566	KH 6.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein 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)		TATTTTGTGCATTTTTCCACC	0.478													-	242187454	T	-	242187454	7	5	189	1	0	1	0	1	0	0	0	0	7025	1490	52	0	2171	0	HDLBP	2	242187454	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	5495	242187454	1011919	858	98715											
FARP2	9855	broad.mit.edu	37	chr2	242432345	242432345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttcctttattgacagaAccagctttcaggatatctgc	6	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:242432345A>G	uc002wbi.1	+	25	2906	c.2789A>G	c.(2788-2790)AAC>AGC	p.N930S		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	930	PH 2.				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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		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)		TATTGACAGAACCAGCTTTCA	0.463													G	242432345	A	G	242432345	3	3	189	1	0	0	0	0	1	0	0	0	5677	57	2	3	2883	3	FARP2	2	242432345	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	244891	242432345	767028	859	98716											
ING5	84289	broad.mit.edu	37	chr2	242644110	242644110	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttcagaggaacttccagcTgatgcgagagctggaccaga	12	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:242644110T>A	uc002wcd.2	+	2	105	c.80T>A	c.(79-81)CTG>CAG	p.L27Q	ING5_uc002wcc.1_Missense_Mutation_p.L27Q	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	27					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				0		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)		AACTTCCAGCTGATGCGAGAG	0.522													A	242644110	T	A	242644110	3	1	189	1	0	0	0	0	1	0	0	0	7739	1580	55	5	86	5	ING5	2	242644110	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	211765	242644110	555263	860	98717											
ING5	84289	broad.mit.edu	37	chr2	242662478	242662478	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggggagatgattggctgtGacaatccagacgtgagtgtc	15	6	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr2:242662478G>A	uc002wcd.2	+	6	632	c.607G>A	c.(607-609)GAC>AAC	p.D203N		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	203	PHD-type.				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				0		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)		GATTGGCTGTGACAATCCAGA	0.592													A	242662478	G	A	242662478	3	1	189	1	0	0	0	0	1	0	0	0	7739	1290	45	4	629	4	ING5	2	242662478	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	18368	242662478	536895	861	98718											
CHL1	10752	broad.mit.edu	37	chr3	431057	431057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacattgcgggtgatgacGcctgctgtctatgcccctta	10	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:431057G>A	uc003bou.2	+	19	2593	c.2322G>A	c.(2320-2322)ACG>ACA	p.T774T	CHL1_uc003bot.2_Silent_p.T790T|CHL1_uc003bow.1_Silent_p.T774T|CHL1_uc011asi.1_Silent_p.T790T	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	774	Fibronectin type-III 2.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		GGGTGATGACGCCTGCTGTCT	0.438													A	431057	G	A	431057	2	1	189	1	0	0	0	0	0	0	0	1	3349	1074	38	1		1	CHL1	3	431057	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08		431057	197591373	862	98719											
CNTN6	27255	broad.mit.edu	37	chr3	1414032	1414032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggatgttacagttggCgagagtatagtgctaccatg	12	5	0	1	rs138661122		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:1414032C>T	uc003boz.2	+	13	1809	c.1542C>T	c.(1540-1542)GGC>GGT	p.G514G	CNTN6_uc011asj.1_Silent_p.G442G|CNTN6_uc003bpa.2_Silent_p.G514G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	514	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		TTACAGTTGGCGAGAGTATAG	0.393													T	1414032	C	T	1414032	2	4	189	1	0	0	0	0	0	0	0	1	3645	755	27	1		1	CNTN6	3	1414032	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	982975	1414032	196608398	863	98720											
LRRN1	57633	broad.mit.edu	37	chr3	3886572	3886572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctcttacagagcaatAacatcgcaaagactgtggat	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:3886572A>G	uc003bpt.3	+	2	1008	c.247A>G	c.(247-249)AAC>GAC	p.N83D	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	83	Extracellular (Potential).|LRR 1.					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACAGAGCAATAACATCGCAAA	0.448													G	3886572	A	G	3886572	3	3	189	1	0	0	0	0	1	0	0	0	9034	362	13	3	249	3	LRRN1	3	3886572	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2472540	3886572	194135858	864	98721											
C3orf32	51066	broad.mit.edu	37	chr3	8671348	8671348	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggttcacagatgactcAccgtgcccgccccgtggcag	12	15	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:8671348A>G	uc003bqu.2	-	7	768	c.522_splice	c.e7+1	p.T174_splice	C3orf32_uc003bqz.2_Splice_Site_p.T174_splice|C3orf32_uc003bqt.2_Splice_Site_p.T123_splice|C3orf32_uc011atg.1_Splice_Site_p.T196_splice|C3orf32_uc003bqv.2_Splice_Site_p.T123_splice|C3orf32_uc003bqw.2_Splice_Site|C3orf32_uc003bqx.2_Splice_Site|C3orf32_uc003bqy.2_Splice_Site_p.T174_splice	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066											skin(1)	1						CAGATGACTCACCGTGCCCGC	0.358													G	8671348	A	G	8671348	5	3	189	1	0	0	0	0	0	0	1	0	2222	173	6	3	561	3	C3orf32	3	8671348	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4784776	8671348	189351082	865	98722											
THUMPD3	25917	broad.mit.edu	37	chr3	9413199	9413199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttaagtggaaggccgaCatgaccaactttgatgtgga	11	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:9413199C>T	uc003bro.3	+	4	934	c.786C>T	c.(784-786)GAC>GAT	p.D262D	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Silent_p.D262D	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	262	THUMP.						methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAAGGCCGACATGACCAACT	0.433													T	9413199	C	T	9413199	2	4	189	1	0	0	0	0	0	0	0	1	15881	477	17	4		4	THUMPD3	3	9413199	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	741851	9413199	188609231	866	98723											
SETD5	55209	broad.mit.edu	37	chr3	9488951	9488951	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatcccaagcaccccacAgagtgttggtgtgaataccc	8	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:9488951A>C	uc003brt.2	+	14	2177	c.1742A>C	c.(1741-1743)CAG>CCG	p.Q581P	SETD5_uc003brs.1_Missense_Mutation_p.Q562P|SETD5_uc003bru.2_Missense_Mutation_p.Q483P|SETD5_uc003brv.2_Missense_Mutation_p.Q470P|SETD5_uc010hck.2_Missense_Mutation_p.Q63P|SETD5_uc003brx.2_Missense_Mutation_p.Q250P	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	581										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCACCCCACAGAGTGTTGGT	0.463													C	9488951	A	C	9488951	3	2	189	1	0	0	0	0	1	0	0	0	14134	188	7	5	1788	5	SETD5	3	9488951	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	75752	9488951	188533479	867	98724											
CPNE9	151835	broad.mit.edu	37	chr3	9768398	9768398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggtgtaggaccagccaTgtttgagggtgagtaggaag	17	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:9768398T>C	uc003bsd.2	+	18	1565	c.1394T>C	c.(1393-1395)ATG>ACG	p.M465T		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	465	VWFA.									ovary(2)	2	Medulloblastoma(99;0.227)					GGACCAGCCATGTTTGAGGGT	0.552													C	9768398	T	C	9768398	3	2	189	1	0	0	0	0	1	0	0	0	3819	1464	51	3	1464	3	CPNE9	3	9768398	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	279447	9768398	188254032	868	98725											
BRPF1	7862	broad.mit.edu	37	chr3	9775910	9775910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcccggtggagacctgccGaaaggtctacaagagttaca	13	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:9775910G>A	uc003bse.2	+	2	485	c.86G>A	c.(85-87)CGA>CAA	p.R29Q	BRPF1_uc003bsf.2_Missense_Mutation_p.R29Q|BRPF1_uc003bsg.2_Missense_Mutation_p.R29Q|BRPF1_uc011ati.1_Missense_Mutation_p.R29Q	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	29	C2H2-type.				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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GAGACCTGCCGAAAGGTCTAC	0.532													A	9775910	G	A	9775910	3	1	189	1	0	0	0	0	1	0	0	0	1520	1058	37	1	88	1	BRPF1	3	9775910	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7512	9775910	188246520	869	98726											
OGG1	4968	broad.mit.edu	37	chr3	9792665	9792665	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacactggagtggtgtActagcggatcaagtatggac	13	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:9792665A>G	uc003bsi.2	+	2	517	c.174A>G	c.(172-174)GTA>GTG	p.V58V	OGG1_uc003bsh.2_Silent_p.V58V|OGG1_uc003bsj.2_Silent_p.V58V|OGG1_uc003bsk.2_Silent_p.V58V|OGG1_uc003bsl.2_Silent_p.V58V|OGG1_uc003bsm.2_Silent_p.V58V|OGG1_uc003bsn.2_Silent_p.V58V|OGG1_uc003bso.2_Silent_p.V58V|OGG1_uc003bsp.1_5'Flank|OGG1_uc010hcm.1_5'Flank|OGG1_uc003bsq.1_5'Flank|OGG1_uc003bsr.1_5'Flank	NM_002542	NP_002533	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 1a	58					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					GGAGTGGTGTACTAGCGGATC	0.567								BER_DNA_glycosylases					G	9792665	A	G	9792665	2	3	189	1	0	0	0	0	0	0	0	1	10845	378	14	3		3	OGG1	3	9792665	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	16755	9792665	188229765	870	98727											
ARPC4	10093	broad.mit.edu	37	chr3	9841903	9841903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttacaacctgtgaccAtcagcaggaatgagaaggaa	10	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:9841903A>G	uc003bsz.1	+	3	736	c.157A>G	c.(157-159)ATC>GTC	p.I53V	ARPC4_uc003bta.1_5'UTR|ARPC4_uc003btb.1_5'UTR|ARPC4_uc003btc.1_5'UTR|TTLL3_uc003btd.3_5'UTR	NM_005718	NP_005709	P59998	ARPC4_HUMAN	actin related protein 2/3 complex subunit 4	53					actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding				0	Medulloblastoma(99;0.227)					ACCTGTGACCATCAGCAGGAA	0.483													G	9841903	A	G	9841903	3	3	189	1	0	0	0	0	1	0	0	0	973	217	8	3	167	3	ARPC4	3	9841903	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	49238	9841903	188180527	871	98728											
CRELD1	78987	broad.mit.edu	37	chr3	9982597	9982597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgaaggagaagggacacGagggggcagcgggcactgtg	21	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:9982597G>A	uc003bug.2	+	6	642	c.524G>A	c.(523-525)CGA>CAA	p.R175Q	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.R175Q|CRELD1_uc003buh.2_Missense_Mutation_p.R175Q|CRELD1_uc003bui.2_Missense_Mutation_p.R175Q|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	175	Extracellular (Potential).|EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						GAAGGGACACGAGGGGGCAGC	0.627													A	9982597	G	A	9982597	3	1	189	1	0	0	0	0	1	0	0	0	3866	1058	37	1	542	1	CRELD1	3	9982597	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	140694	9982597	188039833	872	98729											
FANCD2	2177	broad.mit.edu	37	chr3	10076903	10076903	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaaactgcttctggggAttgacatactgcaggtaaga	10	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:10076903A>T	uc003buw.2	+	6	502	c.424A>T	c.(424-426)ATT>TTT	p.I142F	FANCD2_uc003bux.1_Missense_Mutation_p.I142F|FANCD2_uc003buy.1_Missense_Mutation_p.I142F|FANCD2_uc003buv.2_Missense_Mutation_p.I142F	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	142	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCTTCTGGGGATTGACATACT	0.378			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	10076903	A	T	10076903	3	4	189	1	0	0	0	0	1	0	0	0	5665	333	12	5	442	5	FANCD2	3	10076903	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	94306	10076903	187945527	873	98730											
IRAK2	3656	broad.mit.edu	37	chr3	10264468	10264468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgccagaggatttcatcCgggtggggcagctgacaaag	14	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:10264468C>T	uc003bve.1	+	9	1238	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	388	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						GGATTTCATCCGGGTGGGGCA	0.527													T	10264468	C	T	10264468	3	4	189	1	0	0	0	0	1	0	0	0	7823	643	23	1	1196	1	IRAK2	3	10264468	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	187565	10264468	187757962	874	98731											
SLC6A11	6538	broad.mit.edu	37	chr3	10916650	10916650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttgtgcacaggttgTatacgtgactgcgacattcc	9	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:10916650T>C	uc003bvz.2	+	6	795	c.761T>C	c.(760-762)GTA>GCA	p.V254A		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	254	Helical; Name=5; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCACAGGTTGTATACGTGACT	0.408													C	10916650	T	C	10916650	3	2	189	1	0	0	0	0	1	0	0	0	14674	1638	57	3	783	3	SLC6A11	3	10916650	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	652182	10916650	187105780	875	98732											
SLC6A1	6529	broad.mit.edu	37	chr3	11078588	11078588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgaagacatcgttcGcccagagaatggtcctgagc	12	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:11078588G>A	uc010hdq.2	+	16	2147	c.1736G>A	c.(1735-1737)CGC>CAC	p.R579H		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	579	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GACATCGTTCGCCCAGAGAAT	0.637													A	11078588	G	A	11078588	3	1	189	1	0	0	0	0	1	0	0	0	14673	1087	38	1	1790	1	SLC6A1	3	11078588	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	161938	11078588	186943842	876	98733											
SYN2	6854	broad.mit.edu	37	chr3	12208796	12208796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgatgctggagcagattgCcatgtcagacaggtgagttg	15	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:12208796C>T	uc003bwm.2	+	12	1207	c.1043C>T	c.(1042-1044)GCC>GTC	p.A348V	SYN2_uc003bwl.1_Missense_Mutation_p.A348V|SYN2_uc003bwn.2_Missense_Mutation_p.A22V	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	348					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						GAGCAGATTGCCATGTCAGAC	0.512													T	12208796	C	T	12208796	3	4	189	1	0	0	0	0	1	0	0	0	15438	739	26	2	1074	2	SYN2	3	12208796	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1130208	12208796	185813634	877	98734											
NUP210	23225	broad.mit.edu	37	chr3	13372109	13372109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggtccatccaggacgcGgtagctcagagaggctgcac	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:13372109G>A	uc003bxv.1	-	30	4044	c.3961C>T	c.(3961-3963)CGC>TGC	p.R1321C		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1321	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TCCAGGACGCGGTAGCTCAGA	0.507													A	13372109	G	A	13372109	3	1	189	1	0	0	0	0	1	0	0	0	10760	1116	39	1	1746	1	NUP210	3	13372109	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1163313	13372109	184650321	878	98735											
FBLN2	2199	broad.mit.edu	37	chr3	13670760	13670760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgactgcaaagccggctTtcagcgggatgcctttggcc	13	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:13670760T>C	uc011avb.1	+	12	2794	c.2669T>C	c.(2668-2670)TTT>TCT	p.F890S	FBLN2_uc011auz.1_Missense_Mutation_p.F916S|FBLN2_uc011ava.1_Missense_Mutation_p.F937S|FBLN2_uc011avc.1_Missense_Mutation_p.F937S	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	890	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AAAGCCGGCTTTCAGCGGGAT	0.642													C	13670760	T	C	13670760	3	2	189	1	0	0	0	0	1	0	0	0	5699	1841	64	3	1546	3	FBLN2	3	13670760	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	298651	13670760	184351670	879	98736											
WNT7A	7476	broad.mit.edu	37	chr3	13896052	13896052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctgcctcgttgttgtGcaagttcatgagagtccggg	14	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:13896052G>A	uc003bye.1	-	3	852	c.547C>T	c.(547-549)CAC>TAC	p.H183Y		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	183					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			ovary(2)|breast(1)	3						TCGTTGTTGTGCAAGTTCATG	0.507													A	13896052	G	A	13896052	3	1	189	1	0	0	0	0	1	0	0	0	17391	1319	46	2	510	2	WNT7A	3	13896052	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	225292	13896052	184126378	880	98737											
XPC	7508	broad.mit.edu	37	chr3	14199626	14199626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtcatccagactgggTcgtacctctgtgtgacatct	9	12	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:14199626T>C	uc011ave.1	-	9	1861	c.1757A>G	c.(1756-1758)GAC>GGC	p.D586G	XPC_uc011avf.1_Missense_Mutation_p.D393G|XPC_uc011avg.1_Missense_Mutation_p.D549G	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	586	Interaction with RAD23B.				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			ovary(2)|breast(1)	3						CCAGACTGGGTCGTACCTCTG	0.577			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				C	14199626	T	C	14199626	3	2	189	1	0	0	0	0	1	0	0	0	17438	1667	58	3		3	XPC	3	14199626	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	303574	14199626	183822804	881	98738											
C3orf20	84077	broad.mit.edu	37	chr3	14768513	14768513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgactcagttcattaatTctatcttgctggccgcaggt	9	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:14768513T>C	uc003byy.2	+	11	2076	c.1672T>C	c.(1672-1674)TCT>CCT	p.S558P	C3orf20_uc003byz.2_Missense_Mutation_p.S436P|C3orf20_uc003bza.2_Missense_Mutation_p.S436P|C3orf20_uc003bzb.1_Missense_Mutation_p.S59P	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	558						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						GTTCATTAATTCTATCTTGCT	0.522													C	14768513	T	C	14768513	3	2	189	1	0	0	0	0	1	0	0	0	2213	1783	62	3	1706	3	C3orf20	3	14768513	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	568887	14768513	183253917	882	98739											
MRPS25	64432	broad.mit.edu	37	chr3	15094962	15094962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccacatccaccaggaccTgctccccagaatctggaaac	6	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:15094962T>C	uc003bzl.2	-	3	369	c.254A>G	c.(253-255)CAG>CGG	p.Q85R	MRPS25_uc011avl.1_Intron|MRPS25_uc011avm.1_Missense_Mutation_p.Q85R	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	85					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						CACCAGGACCTGCTCCCCAGA	0.468													C	15094962	T	C	15094962	3	2	189	1	0	0	0	0	1	0	0	0	9836	1580	55	3	275	3	MRPS25	3	15094962	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	326449	15094962	182927468	883	98740											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116352	15116352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagggggcagggcccctgCggagagatgccacctccccg	15	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:15116352C>T	uc003bzm.1	-	14	1906	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	ZFYVE20_uc010hek.1_Missense_Mutation_p.R431H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	431	Necessary for the interaction with RAB4A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						AGGGCCCCTGCGGAGAGATGC	0.657													T	15116352	C	T	15116352	3	4	189	1	0	0	0	0	1	0	0	0	17663	768	27	1	1066	1	ZFYVE20	3	15116352	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21390	15116352	182906078	884	98741											
ZFYVE20	64145	broad.mit.edu	37	chr3	15131914	15131914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttcttaccaagctccTggggttcccacatgtaagga	9	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:15131914T>C	uc003bzm.1	-	5	895	c.281A>G	c.(280-282)CAG>CGG	p.Q94R	ZFYVE20_uc010hek.1_Missense_Mutation_p.Q94R|ZFYVE20_uc011avn.1_Missense_Mutation_p.Q94R	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	94					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						ACCAAGCTCCTGGGGTTCCCA	0.294													C	15131914	T	C	15131914	3	2	189	1	0	0	0	0	1	0	0	0	17663	1580	55	3	2113	3	ZFYVE20	3	15131914	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	15562	15131914	182890516	885	98742											
HACL1	26061	broad.mit.edu	37	chr3	15604967	15604967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttttggagttcttctggTgtttgtacaaaatacccttt	8	6	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:15604967T>C	uc003caf.2	-	16	1762	c.1602A>G	c.(1600-1602)ACA>ACG	p.T534T	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Silent_p.T507T|HACL1_uc011avt.1_Silent_p.T474T|HACL1_uc003cag.2_Silent_p.T178T|HACL1_uc011avu.1_Silent_p.T452T|HACL1_uc010hep.2_Silent_p.T293T	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	534					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						GTTCTTCTGGTGTTTGTACAA	0.453													C	15604967	T	C	15604967	2	2	189	1	0	0	0	0	0	0	0	1	6941	1683	59	3		3	HACL1	3	15604967	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	473053	15604967	182417463	886	98743											
HACL1	26061	broad.mit.edu	37	chr3	15609957	15609957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgacgaggaaggtagTtctgaagcacagtccgtcca	12	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:15609957T>C	uc003caf.2	-	13	1392	c.1232A>G	c.(1231-1233)AAC>AGC	p.N411S	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.N384S|HACL1_uc011avt.1_Missense_Mutation_p.N351S|HACL1_uc003cag.2_Missense_Mutation_p.N55S|HACL1_uc011avu.1_Missense_Mutation_p.N329S|HACL1_uc010hep.2_Missense_Mutation_p.N170S	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	411	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						AGGAAGGTAGTTCTGAAGCAC	0.373													C	15609957	T	C	15609957	3	2	189	1	0	0	0	0	1	0	0	0	6941	1725	60	3	524	3	HACL1	3	15609957	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4990	15609957	182412473	887	98744											
HACL1	26061	broad.mit.edu	37	chr3	15610025	15610025	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacgaaacagtctctaggTagttgttcttgaacatggta	9	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:15610025T>C	uc003caf.2	-	13	1324	c.1164A>G	c.(1162-1164)CTA>CTG	p.L388L	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Silent_p.L361L|HACL1_uc011avt.1_Silent_p.L328L|HACL1_uc003cag.2_Silent_p.L32L|HACL1_uc011avu.1_Silent_p.L306L|HACL1_uc010hep.2_Silent_p.L147L	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	388					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						AGTCTCTAGGTAGTTGTTCTT	0.378													C	15610025	T	C	15610025	2	2	189	1	0	0	0	0	0	0	0	1	6941	1625	57	3		3	HACL1	3	15610025	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	68	15610025	182412405	888	98745											
ANKRD28	23243	broad.mit.edu	37	chr3	15726863	15726863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcagcagacaggtgTataggcgtccggcccctgct	13	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:15726863T>C	uc003caj.1	-	21	2312	c.2169A>G	c.(2167-2169)ATA>ATG	p.I723M	ANKRD28_uc003cai.1_Missense_Mutation_p.I569M|ANKRD28_uc011avz.1_Missense_Mutation_p.I569M|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.I753M|ANKRD28_uc003cam.2_Missense_Mutation_p.I756M	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	723	ANK 21.					nucleoplasm	protein binding			breast(1)	1						CAGACAGGTGTATAGGCGTCC	0.488													C	15726863	T	C	15726863	3	2	189	1	0	0	0	0	1	0	0	0	656	1628	57	3	1024	3	ANKRD28	3	15726863	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	116838	15726863	182295567	889	98746											
RFTN1	23180	broad.mit.edu	37	chr3	16358352	16358352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcagttttcttcaaccgTaccaagctctctgacttcct	5	14	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:16358352T>C	uc003cay.2	-	10	2002	c.1720A>G	c.(1720-1722)ACG>GCG	p.T574A	RFTN1_uc010hes.2_Missense_Mutation_p.T538A|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	574						plasma membrane				ovary(3)|central_nervous_system(1)	4						TCTTCAACCGTACCAAGCTCT	0.552													C	16358352	T	C	16358352	3	2	189	1	0	0	0	0	1	0	0	0	13258	1638	57	3	20	3	RFTN1	3	16358352	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	631489	16358352	181664078	890	98747											
SATB1	6304	broad.mit.edu	37	chr3	18428081	18428081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggggtcctcttcctttCggaggatttctgaaagcaag	11	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:18428081C>T	uc003cbh.2	-	8	2964	c.1229G>A	c.(1228-1230)CGA>CAA	p.R410Q	SATB1_uc003cbi.2_Missense_Mutation_p.R410Q|SATB1_uc003cbj.2_Missense_Mutation_p.R410Q	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	410	CUT 1.|Matrix attachment region (MAR) DNA- binding.			R->N: Impaired MAR-DNA-binding.	cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CTCTTCCTTTCGGAGGATTTC	0.507													T	18428081	C	T	18428081	3	4	189	1	0	0	0	0	1	0	0	0	13853	884	31	1	1078	1	SATB1	3	18428081	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2069729	18428081	179594349	891	98748											
SATB1	6304	broad.mit.edu	37	chr3	18462397	18462397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggacccttcggatcActcacattgttagacatttc	9	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:18462397A>G	uc003cbh.2	-	2	1798	c.63T>C	c.(61-63)AGT>AGC	p.S21S	SATB1_uc003cbi.2_Silent_p.S21S|SATB1_uc003cbj.2_Silent_p.S21S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	21	Nuclear localization signal.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CCTTCGGATCACTCACATTGT	0.498													G	18462397	A	G	18462397	2	3	189	1	0	0	0	0	0	0	0	1	13853	156	6	3		3	SATB1	3	18462397	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	34316	18462397	179560033	892	98749											
KCNH8	131096	broad.mit.edu	37	chr3	19498275	19498275	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctagggaaaggggatttaaTtggagcaaatctatcaatta	10	4	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:19498275T>A	uc003cbk.1	+	11	2036	c.1841T>A	c.(1840-1842)ATT>AAT	p.I614N	KCNH8_uc010hex.1_Missense_Mutation_p.I75N	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	614	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GGGGATTTAATTGGAGCAAAT	0.373													A	19498275	T	A	19498275	3	1	189	1	0	0	0	0	1	0	0	0	8038	1493	52	5	1883	5	KCNH8	3	19498275	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1035878	19498275	178524155	893	98750											
SGOL1	151648	broad.mit.edu	37	chr3	20225109	20225109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaaatacctgagcaggTtctactgtttgttgtgatgt	10	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:20225109T>C	uc003cbs.2	-	3	517	c.330A>G	c.(328-330)GAA>GAG	p.E110E	SGOL1_uc003cbr.2_Silent_p.E110E|SGOL1_uc010hfa.2_Silent_p.E110E|SGOL1_uc003cbt.2_Silent_p.E110E|SGOL1_uc003cbu.2_Silent_p.E110E|SGOL1_uc003cbv.2_Silent_p.E110E|SGOL1_uc003cbw.2_Silent_p.E110E|SGOL1_uc003cbx.2_Silent_p.E110E|SGOL1_uc003cby.2_Silent_p.E110E|SGOL1_uc003cbz.2_Silent_p.E110E|SGOL1_uc003cca.2_Silent_p.E110E|SGOL1_uc003ccb.2_Silent_p.E110E|SGOL1_uc003ccc.2_Silent_p.E110E	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	110	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						CCTGAGCAGGTTCTACTGTTT	0.323													C	20225109	T	C	20225109	2	2	189	1	0	0	0	0	0	0	0	1	14216	1722	60	3		3	SGOL1	3	20225109	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	726834	20225109	177797321	894	98751											
SLC4A7	9497	broad.mit.edu	37	chr3	27490198	27490198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctttatcttttcttctcCggtggtgatgtttgtgtccg	9	8	4	1	rs149158126		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:27490198C>T	uc003cdv.2	-	3	277	c.206G>A	c.(205-207)CGG>CAG	p.R69Q	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.R74Q|SLC4A7_uc011aww.1_Missense_Mutation_p.R78Q|SLC4A7_uc011awx.1_Missense_Mutation_p.R78Q|SLC4A7_uc011awy.1_Missense_Mutation_p.R74Q|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.R74Q|SLC4A7_uc011axb.1_Missense_Mutation_p.R78Q|SLC4A7_uc010hfm.2_Missense_Mutation_p.R74Q|SLC4A7_uc003cdw.2_Missense_Mutation_p.R69Q	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	69	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						TTTTCTTCTCCGGTGGTGATG	0.398													T	27490198	C	T	27490198	3	4	189	1	0	0	0	0	1	0	0	0	14658	652	23	1	3530	1	SLC4A7	3	27490198	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7265089	27490198	170532232	895	98752											
EOMES	8320	broad.mit.edu	37	chr3	27758600	27758600	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcataataccctcccatgccTtttgaggtgtctttactata	6	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:27758600T>C	uc003cdx.2	-	6	2022	c.2022A>G	c.(2020-2022)AAA>AAG	p.K674K	EOMES_uc003cdy.3_Silent_p.K693K|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Silent_p.K398K	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	674	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			ovary(3)|breast(1)	4						CTCCCATGCCTTTTGAGGTGT	0.393													C	27758600	T	C	27758600	2	2	189	1	0	0	0	0	0	0	0	1	5147	1606	56	3		3	EOMES	3	27758600	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	268402	27758600	170263830	896	98753											
OSBPL10	114884	broad.mit.edu	37	chr3	31725576	31725576	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacatctccagcaaagatcGcttctccaggataaaggtgg	9	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:31725576G>A	uc003cev.2	-	9	1657	c.1276C>T	c.(1276-1278)CGA>TGA	p.R426*	OSBPL10_uc003ceu.1_Nonsense_Mutation_p.R183*|OSBPL10_uc011axf.1_Nonsense_Mutation_p.R362*	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	426					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		AGCAAAGATCGCTTCTCCAGG	0.507													A	31725576	G	A	31725576	4	1	189	1	0	0	0	0	0	1	0	0	11275	1095	38	1	1038	1	OSBPL10	3	31725576	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3966976	31725576	166296854	897	98754											
GPD1L	23171	broad.mit.edu	37	chr3	32201136	32201136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttctgctgaagtgtaccGcatcctcaaacagaagggac	10	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:32201136G>A	uc003cew.2	+	7	989	c.929G>A	c.(928-930)CGC>CAC	p.R310H		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	310					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						GAAGTGTACCGCATCCTCAAA	0.453													A	32201136	G	A	32201136	3	1	189	1	0	0	0	0	1	0	0	0	6605	1087	38	1	955	1	GPD1L	3	32201136	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	475560	32201136	165821294	898	98755											
TMPPE	643853	broad.mit.edu	37	chr3	33135378	33135378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcggccactaaaaagaAcatggtaaagaaactggaat	8	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:33135378A>G	uc003cfk.2	-	2	501	c.310T>C	c.(310-312)TTC>CTC	p.F104L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	104	Helical; (Potential).					integral to membrane	metal ion binding				0						ACTAAAAAGAACATGGTAAAG	0.527													G	33135378	A	G	33135378	3	3	189	1	0	0	0	0	1	0	0	0	16235	43	2	3	1055	3	TMPPE	3	33135378	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	934242	33135378	164887052	899	98756											
UBP1	7342	broad.mit.edu	37	chr3	33458253	33458253	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggactgtccttaccttTactaattttccattgatctc	4	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:33458253T>C	uc003cfq.3	-	3	869	c.339A>G	c.(337-339)GTA>GTG	p.V113V	UBP1_uc003cfr.3_Silent_p.V113V|UBP1_uc010hga.2_Silent_p.V113V	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	113					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			kidney(2)	2						TCCTTACCTTTACTAATTTTC	0.289													C	33458253	T	C	33458253	2	2	189	1	0	0	0	0	0	0	0	1	16892	1741	61	3		3	UBP1	3	33458253	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	322875	33458253	164564177	900	98757											
PDCD6IP	10015	broad.mit.edu	37	chr3	33855092	33855092	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgctttcgataaaggTtcactttttggaggctctgt	11	6	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:33855092T>G	uc003cfx.2	+	3	461	c.306T>G	c.(304-306)GGT>GGG	p.G102G	PDCD6IP_uc011axv.1_Silent_p.G102G|PDCD6IP_uc003cfy.2_Silent_p.G102G	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	102	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						TCGATAAAGGTTCACTTTTTG	0.303													G	33855092	T	G	33855092	2	3	189	1	0	0	0	0	0	0	0	1	11624	1712	60	5		5	PDCD6IP	3	33855092	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	396839	33855092	164167338	901	98758											
PDCD6IP	10015	broad.mit.edu	37	chr3	33866811	33866812	+	Frame_Shift_Ins	INS	-	-	T													ggcacaggctcaagaagtatINStttttttaaaagccacaaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:33866810_33866811A>AT	uc003cfx.3	+	4	749_750	c.594_595A>AT	c.(592-597)gtatttfs	p.V198fs	PDCD6IP_uc011axv.2_Frame_Shift_Ins_p.V198fs|PDCD6IP_uc003cfy.3_Frame_Shift_Ins_p.V198fs	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	198	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						CTCAAGAAGTATTTTTTTTAAA	0.366													T	33866812	-	T	33866811	7	5	189	1	0	1	1	0	0	0	0	0	11624	1493	52	0	613	0	PDCD6IP	3	33866811	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	11719	33866811	164155619	902	98759											
ARPP21	10777	broad.mit.edu	37	chr3	35731623	35731623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaattattgatttcattgCtgacaacaagtatgttaaac	7	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:35731623C>T	uc003cgb.2	+	8	800	c.536C>T	c.(535-537)GCT>GTT	p.A179V	ARPP21_uc003cga.2_Missense_Mutation_p.A179V|ARPP21_uc011axy.1_Missense_Mutation_p.A179V|ARPP21_uc003cgf.2_Missense_Mutation_p.A15V	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	179	R3H.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GATTTCATTGCTGACAACAAG	0.323													T	35731623	C	T	35731623	3	4	189	1	0	0	0	0	1	0	0	0	978	797	28	2	571	2	ARPP21	3	35731623	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1864812	35731623	162290807	903	98760											
ARPP21	10777	broad.mit.edu	37	chr3	35756944	35756944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtcagtttgctcccAggaaagcctttttgtggaaa	9	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:35756944A>G	uc003cgb.2	+	12	1175	c.911A>G	c.(910-912)CAG>CGG	p.Q304R	ARPP21_uc003cga.2_Missense_Mutation_p.Q270R|ARPP21_uc011axy.1_Missense_Mutation_p.Q270R|ARPP21_uc003cgf.2_Missense_Mutation_p.Q106R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	304						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GTTTGCTCCCAGGAAAGCCTT	0.328													G	35756944	A	G	35756944	3	3	189	1	0	0	0	0	1	0	0	0	978	188	7	3	962	3	ARPP21	3	35756944	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	25321	35756944	162265486	904	98761											
TRANK1	9881	broad.mit.edu	37	chr3	36873767	36873767	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcacctcttgatgaggAcattcatgaaacggaaaaag	9	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:36873767A>T	uc003cgj.2	-	12	5827	c.5525T>A	c.(5524-5526)GTC>GAC	p.V1842D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2392					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTTGATGAGGACATTCATGAA	0.507													T	36873767	A	T	36873767	3	4	189	1	0	0	0	0	1	0	0	0	16451	275	10	5	1614	5	TRANK1	3	36873767	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1116823	36873767	161148663	905	98762											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033280	37033280	+	Frame_Shift_Del	DEL	T	T	-													gggcaggaaagtctgttagaTttttttcctcaatatgtctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:37033279_37033279AT>A	uc003cgk.3	-	0	1517	c.1290_1290AT>T	c.(1288-1290)aatfs	p.N430fs	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	430				N -> I (in Ref. 2; AAG43120).		endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						AGTCTGTTAGATTTTTTTCCT	0.338													-	37033280	T	-	37033280	7	5	189	1	0	1	0	1	0	0	0	0	5184	1493	52	0	538	0	EPM2AIP1	3	37033280	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	159513	37033280	160989150	906	98763											
GOLGA4	2803	broad.mit.edu	37	chr3	37368264	37368264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcattggaagataggctTgagtcagaaagtgctgcaaa	13	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:37368264T>C	uc003cgv.2	+	14	5191	c.4887T>C	c.(4885-4887)CTT>CTC	p.L1629L	GOLGA4_uc010hgr.1_Silent_p.L1190L|GOLGA4_uc003cgw.2_Silent_p.L1651L|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.L1510L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1629	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						AAGATAGGCTTGAGTCAGAAA	0.363													C	37368264	T	C	37368264	2	2	189	1	0	0	0	0	0	0	0	1	6555	1799	63	3		3	GOLGA4	3	37368264	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	334984	37368264	160654166	907	98764											
VILL	50853	broad.mit.edu	37	chr3	38043035	38043035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactgctaccttgtgctctAcacataccagaggctgggcc	9	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38043035A>G	uc003chj.2	+	12	1557	c.1271A>G	c.(1270-1272)TAC>TGC	p.Y424C	VILL_uc003chl.2_Missense_Mutation_p.Y424C|VILL_uc010hgu.2_Missense_Mutation_p.Y254C	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	424	Gelsolin-like 4.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTTGTGCTCTACACATACCAG	0.592													G	38043035	A	G	38043035	3	3	189	1	0	0	0	0	1	0	0	0	17162	391	14	3	1313	3	VILL	3	38043035	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	674771	38043035	159979395	908	98765											
DLEC1	9940	broad.mit.edu	37	chr3	38104179	38104179	+	Frame_Shift_Del	DEL	A	A	-													gagagtcggaaccacttcctAaaaaatccccgtttttttcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38104178_38104178TA>T	uc003chp.1	+	4	1001	c.980_980TA>T	c.(979-981)ctafs	p.L327fs	DLEC1_uc003cho.1_Frame_Shift_Del_p.L327fs|DLEC1_uc010hgv.1_Frame_Shift_Del_p.L327fs|DLEC1_uc010hgw.1_Frame_Shift_Del_p.L26fs|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	327					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)		AACCACTTCCTAAAAAATCCC	0.453													-	38104179	A	-	38104179	7	5	189	1	0	1	0	1	0	0	0	0	4552	349	13	0	999	0	DLEC1	3	38104179	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	61144	38104179	159918251	909	98766											
DLEC1	9940	broad.mit.edu	37	chr3	38127756	38127756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggtgttggactgtggttActgcctcattgggggagtca	15	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38127756A>G	uc003cho.1	+	9	1481	c.1460A>G	c.(1459-1461)TAC>TGC	p.Y487C	DLEC1_uc003chp.1_Missense_Mutation_p.Y487C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y487C|DLEC1_uc010hgw.1_Missense_Mutation_p.Y128C|DLEC1_uc003chq.1_Intron	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	487					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GACTGTGGTTACTGCCTCATT	0.488													G	38127756	A	G	38127756	3	3	189	1	0	0	0	0	1	0	0	0	4552	391	14	3	1494	3	DLEC1	3	38127756	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23577	38127756	159894674	910	98767											
OXSR1	9943	broad.mit.edu	37	chr3	38263180	38263180	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagttatggaacaggTaccgtgtctttttttctgtt	9	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38263180T>C	uc003chy.2	+	6	942	c.600_splice	c.e6+2	p.Q200_splice	OXSR1_uc010hhb.2_Splice_Site_p.Q134_splice|OXSR1_uc010hha.1_Splice_Site_p.Q132_splice	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1						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)		ATGGAACAGGTACCGTGTCTT	0.393													C	38263180	T	C	38263180	5	2	189	1	0	0	0	0	0	0	1	0	11336	1652	57	3	624	3	OXSR1	3	38263180	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	135424	38263180	159759250	911	98768											
OXSR1	9943	broad.mit.edu	37	chr3	38287645	38287645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctacctcagccagctgGgcagattgctacacagccaa	8	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38287645G>A	uc003chy.2	+	13	1532	c.1190G>A	c.(1189-1191)GGG>GAG	p.G397E	OXSR1_uc010hhb.2_Missense_Mutation_p.G331E	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	397					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)		CAGCCAGCTGGGCAGATTGCT	0.507													A	38287645	G	A	38287645	3	1	189	1	0	0	0	0	1	0	0	0	11336	1232	43	4	1240	4	OXSR1	3	38287645	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24465	38287645	159734785	912	98769											
SLC22A13	9390	broad.mit.edu	37	chr3	38316147	38316147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcttcaccctcatcGgcctggccacagcttttgtg	8	16	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38316147G>A	uc003chz.3	+	3	589	c.535G>A	c.(535-537)GGC>AGC	p.G179S	SLC22A13_uc011aym.1_Intron|SLC22A13_uc011ayn.1_Missense_Mutation_p.G179S	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	179	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CACCCTCATCGGCCTGGCCAC	0.607													A	38316147	G	A	38316147	3	1	189	1	0	0	0	0	1	0	0	0	14444	1116	39	1	545	1	SLC22A13	3	38316147	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	28502	38316147	159706283	913	98770											
SCN5A	6331	broad.mit.edu	37	chr3	38603961	38603961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggagtgcacgcagcgtcCgcagtgacttgatggggccc	16	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38603961C>T	uc003cio.2	-	22	4102	c.3908G>A	c.(3907-3909)CGG>CAG	p.R1303Q	SCN5A_uc003cin.2_Missense_Mutation_p.R1302Q|SCN5A_uc003cil.3_Missense_Mutation_p.R1303Q|SCN5A_uc010hhi.2_Missense_Mutation_p.R1303Q|SCN5A_uc010hhk.2_Missense_Mutation_p.R1302Q|SCN5A_uc011ayr.1_Missense_Mutation_p.R1249Q|SCN5A_uc010hhj.1_Missense_Mutation_p.R913Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1303	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	ACGCAGCGTCCGCAGTGACTT	0.622													T	38603961	C	T	38603961	3	4	189	1	0	0	0	0	1	0	0	0	13922	652	23	1	2170	1	SCN5A	3	38603961	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	287814	38603961	159418469	914	98771											
SCN10A	6336	broad.mit.edu	37	chr3	38748787	38748787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggggccgtgggatggGcttctggggcttcttggagc	18	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38748787G>A	uc003ciq.2	-	25	4369	c.4369C>T	c.(4369-4371)CCC>TCC	p.P1457S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1457					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	CGTGGGATGGGCTTCTGGGGC	0.562													A	38748787	G	A	38748787	3	1	189	1	0	0	0	0	1	0	0	0	13912	1203	42	2	1513	2	SCN10A	3	38748787	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	144826	38748787	159273643	915	98772											
SCN10A	6336	broad.mit.edu	37	chr3	38830483	38830483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagttcgggtcatgcacAcacaattaaccaaaatagtg	9	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38830483A>G	uc003ciq.2	-	3	434	c.434T>C	c.(433-435)GTG>GCG	p.V145A		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	145	Helical; Name=S1 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	GGTCATGCACACACAATTAAC	0.393													G	38830483	A	G	38830483	3	3	189	1	0	0	0	0	1	0	0	0	13912	159	6	3	5536	3	SCN10A	3	38830483	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	81696	38830483	159191947	916	98773											
SCN11A	11280	broad.mit.edu	37	chr3	38888509	38888509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgaaggcgaaaagaatAtccatgcagtggaggcgatc	15	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38888509A>G	uc011ays.1	-	26	5251	c.5052T>C	c.(5050-5052)GAT>GAC	p.D1684D		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1684					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGAAAAGAATATCCATGCAGT	0.468													G	38888509	A	G	38888509	2	3	189	1	0	0	0	0	0	0	0	1	13913	446	16	3		3	SCN11A	3	38888509	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	58026	38888509	159133921	917	98774											
SCN11A	11280	broad.mit.edu	37	chr3	38889232	38889232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggtagaaatcattgtAcctcaggagaaggagaaaag	11	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:38889232A>G	uc011ays.1	-	26	4528	c.4329T>C	c.(4327-4329)AGT>AGC	p.S1443S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1443	IV.|Helical; Name=S3 of repeat IV; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAATCATTGTACCTCAGGAGA	0.483													G	38889232	A	G	38889232	2	3	189	1	0	0	0	0	0	0	0	1	13913	405	14	3		3	SCN11A	3	38889232	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	723	38889232	159133198	918	98775											
WDR48	57599	broad.mit.edu	37	chr3	39111148	39111148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacaggtgttacgggtatgGgatccaagaacatgtgcaaa	12	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:39111148G>T	uc003cit.2	+	7	595	c.585G>T	c.(583-585)TGG>TGT	p.W195C	WDR48_uc011ayt.1_Missense_Mutation_p.W186C|WDR48_uc011ayu.1_Missense_Mutation_p.W113C|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	195	WD 4.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACGGGTATGGGATCCAAGAA	0.343													T	39111148	G	T	39111148	3	4	189	1	0	0	0	0	1	0	0	0	17298	1241	43	5	611	5	WDR48	3	39111148	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	221916	39111148	158911282	919	98776											
CSRNP1	64651	broad.mit.edu	37	chr3	39185302	39185303	+	Frame_Shift_Ins	INS	-	-	G													ctcccagctcattgttcatgINSgggggcttggccagtgggaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:39185301_39185302T>TG	uc003cjg.3	-	4	1228_1229	c.1014_1015A>CA	c.(1012-1017)cccatgfs	p.P338fs	CSRNP1_uc003cjh.3_Frame_Shift_Ins_p.P338fs	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	338					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						TCATTGTTCATGGGGGGCTTGG	0.609													G	39185303	-	G	39185302	7	5	189	1	0	1	1	0	0	0	0	0	3963	1335	47	0	759	0	CSRNP1	3	39185302	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	74154	39185302	158837128	920	98777											
RPSA	3921	broad.mit.edu	37	chr3	39449253	39449253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttccagatggaacagTacatctataaaaggaaaagt	8	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:39449253T>C	uc003cjp.2	+	2	194	c.109T>C	c.(109-111)TAC>CAC	p.Y37H	RPSA_uc003cjq.2_Missense_Mutation_p.Y37H|RPSA_uc003cjr.2_Missense_Mutation_p.Y37H|RPSA_uc003cjt.2_5'Flank|SNORA6_uc003cjs.1_5'Flank	NM_002295	NP_002286	P08865	RSSA_HUMAN	ribosomal protein SA	37					cell adhesion|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)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GATGGAACAGTACATCTATAA	0.343													C	39449253	T	C	39449253	3	2	189	1	0	0	0	0	1	0	0	0	13663	1638	57	3	111	3	RPSA	3	39449253	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	263951	39449253	158573177	921	98778											
ZNF619	285267	broad.mit.edu	37	chr3	40529325	40529325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacattcagtcaaaagatcActctggttcagcatcagcga	8	10	6	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:40529325A>G	uc011azb.1	+	6	1722	c.1444A>G	c.(1444-1446)ACT>GCT	p.T482A	ZNF619_uc010hhz.2_Missense_Mutation_p.T433A|ZNF619_uc003ckj.2_Missense_Mutation_p.T426A|ZNF619_uc011azc.1_Missense_Mutation_p.T442A|ZNF619_uc011azd.1_Missense_Mutation_p.T398A|ZNF619_uc011aza.1_Missense_Mutation_p.T384A	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	482					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCAAAAGATCACTCTGGTTCA	0.473													G	40529325	A	G	40529325	3	3	189	1	0	0	0	0	1	0	0	0	18040	159	6	3	1484	3	ZNF619	3	40529325	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1080072	40529325	157493105	922	98779											
CTNNB1	1499	broad.mit.edu	37	chr3	41266486	41266486	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcgagctcagagggtaCgagctgctatgttccctgag	13	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:41266486C>T	uc010hia.1	+	5	439	c.283C>T	c.(283-285)CGA>TGA	p.R95*	CTNNB1_uc003ckp.2_Nonsense_Mutation_p.R95*|CTNNB1_uc003ckq.2_Nonsense_Mutation_p.R95*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.R95*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.R88*|CTNNB1_uc011azg.1_Nonsense_Mutation_p.R23*|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	95					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(4)|p.T3_A126del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.?(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.A20_S111del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCAGAGGGTACGAGCTGCTAT	0.453		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				T	41266486	C	T	41266486	4	4	189	1	0	0	0	0	0	1	0	0	4016	528	19	1	293	1	CTNNB1	3	41266486	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	737161	41266486	156755944	923	98780											
TRAK1	22906	broad.mit.edu	37	chr3	42261039	42261039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccaccttcaccttcaccAcctgtcgcatcctgcatcct	3	20	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:42261039A>G	uc003cky.2	+	15	2233	c.2017A>G	c.(2017-2019)ACC>GCC	p.T673A	TRAK1_uc011azi.1_Missense_Mutation_p.T652A	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	673					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						CACCTTCACCACCTGTCGCAT	0.547													G	42261039	A	G	42261039	3	3	189	1	0	0	0	0	1	0	0	0	16446	159	6	3	2463	3	TRAK1	3	42261039	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	994553	42261039	155761391	924	98781											
SNRK	54861	broad.mit.edu	37	chr3	43388884	43388884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccttgaggatgacctcaCggccactcctttgtcccacg	10	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:43388884C>T	uc003cms.3	+	7	1465	c.1133C>T	c.(1132-1134)ACG>ATG	p.T378M	SNRK_uc003cmt.3_Missense_Mutation_p.T378M|SNRK_uc010hik.2_Missense_Mutation_p.T378M|SNRK_uc011azr.1_Missense_Mutation_p.T172M	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	378					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GATGACCTCACGGCCACTCCT	0.522													T	43388884	C	T	43388884	3	4	189	1	0	0	0	0	1	0	0	0	14851	536	19	1	1151	1	SNRK	3	43388884	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1127845	43388884	154633546	925	98782											
ZNF445	353274	broad.mit.edu	37	chr3	44489669	44489669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatgatacgcaagatgGgagctatgactgaaagtcct	11	8	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:44489669G>A	uc003cnf.2	-	8	1842	c.1494C>T	c.(1492-1494)TCC>TCT	p.S498S	ZNF445_uc011azv.1_Silent_p.S486S|ZNF445_uc011azw.1_Silent_p.S498S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	498	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACGCAAGATGGGAGCTATGAC	0.493													A	44489669	G	A	44489669	2	1	189	1	0	0	0	0	0	0	0	1	17915	1219	43	4		4	ZNF445	3	44489669	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1100785	44489669	153532761	926	98783											
ZNF167	55888	broad.mit.edu	37	chr3	44598750	44598750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtctgggccgcaggaaGcattgagccggcttcgggag	17	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:44598750G>A	uc010hin.2	+	2	599	c.211G>A	c.(211-213)GCA>ACA	p.A71T	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.A71T|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.A71T|ZNF167_uc003cnk.2_Missense_Mutation_p.A71T	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	71	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GCCGCAGGAAGCATTGAGCCG	0.582													A	44598750	G	A	44598750	3	1	189	1	0	0	0	0	1	0	0	0	17738	971	34	2	213	2	ZNF167	3	44598750	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	109081	44598750	153423680	927	98784											
ZNF197	10168	broad.mit.edu	37	chr3	44683453	44683453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtagttctcaaagagcAgactctcataaaggaacatc	7	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:44683453A>G	uc003cnm.2	+	6	1037	c.831A>G	c.(829-831)GCA>GCG	p.A277A	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	277	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CTCAAAGAGCAGACTCTCATA	0.428													G	44683453	A	G	44683453	2	3	189	1	0	0	0	0	0	0	0	1	17756	175	7	3		3	ZNF197	3	44683453	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	84703	44683453	153338977	928	98785											
ZNF35	7584	broad.mit.edu	37	chr3	44700847	44700847	+	Frame_Shift_Del	DEL	A	A	-													ccagaaagtccacattacggAaaaatgctatgaatgtaatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:44700846_44700846GA>G	uc003cnq.3	+	3	1212	c.991_991GA>G	c.(991-993)gaafs	p.E331fs	ZNF35_uc003cnr.3_Frame_Shift_Del_p.E171fs	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	331					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACATTACGGAAAAATGCTA	0.418													-	44700847	A	-	44700847	7	5	189	1	0	1	0	1	0	0	0	0	17859	246	9	0	1002	0	ZNF35	3	44700847	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	17394	44700847	153321583	929	98786											
ZNF35	7584	broad.mit.edu	37	chr3	44700955	44700955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctttgcctgtaacgactGtggcaaagcctttacccaga	9	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:44700955G>A	uc003cnq.2	+	4	1321	c.1100G>A	c.(1099-1101)TGT>TAT	p.C367Y	ZNF35_uc003cnr.2_Missense_Mutation_p.C207Y	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	367	C2H2-type 6.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTAACGACTGTGGCAAAGCC	0.448													A	44700955	G	A	44700955	3	1	189	1	0	0	0	0	1	0	0	0	17859	1377	48	4	1110	4	ZNF35	3	44700955	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	108	44700955	153321475	930	98787											
KIF15	56992	broad.mit.edu	37	chr3	44872475	44872475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattctggatctgaaagaaAcccttaggctgagaatactt	8	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:44872475A>G	uc003cnx.3	+	26	3285	c.3136A>G	c.(3136-3138)ACC>GCC	p.T1046A	KIF15_uc010hiq.2_Missense_Mutation_p.T949A|KIF15_uc010hir.2_Missense_Mutation_p.T94A	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1046	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCTGAAAGAAACCCTTAGGCT	0.393													G	44872475	A	G	44872475	3	3	189	1	0	0	0	0	1	0	0	0	8277	43	2	3	3238	3	KIF15	3	44872475	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	171520	44872475	153149955	931	98788											
ZDHHC3	51304	broad.mit.edu	37	chr3	45000709	45000709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgttgatgatgctatacaCgtagtctcgagatggaatca	10	8	2	3	rs148007027		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:45000709C>T	uc003cod.2	-	2	494	c.220G>A	c.(220-222)GTG>ATG	p.V74M	ZDHHC3_uc003cog.2_Missense_Mutation_p.V74M|ZDHHC3_uc011bad.1_Missense_Mutation_p.V74M	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3 isoform 2	74	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ATGCTATACACGTAGTCTCGA	0.562													T	45000709	C	T	45000709	3	4	189	1	0	0	0	0	1	0	0	0	17613	536	19	1	1044	1	ZDHHC3	3	45000709	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	128234	45000709	153021721	932	98789											
XCR1	2829	broad.mit.edu	37	chr3	46062826	46062826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctgaggatctccacgTagcagaacaggataatcccc	11	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:46062826T>C	uc003cpe.2	-	3	838	c.614A>G	c.(613-615)TAC>TGC	p.Y205C	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.Y205C	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	205	Helical; Name=5; (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GATCTCCACGTAGCAGAACAG	0.582													C	46062826	T	C	46062826	3	2	189	1	0	0	0	0	1	0	0	0	17422	1638	57	3	391	3	XCR1	3	46062826	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1062117	46062826	151959604	933	98790											
CCR1	1230	broad.mit.edu	37	chr3	46245390	46245390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcccgcaaggcaaacaCggcgtggacgatggccaggt	15	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:46245390C>T	uc003cph.1	-	2	486	c.415G>A	c.(415-417)GTG>ATG	p.V139M	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	139	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAGGCAAACACGGCGTGGACG	0.512													T	46245390	C	T	46245390	3	4	189	1	0	0	0	0	1	0	0	0	2939	536	19	1	656	1	CCR1	3	46245390	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	182564	46245390	151777040	934	98791											
LTF	4057	broad.mit.edu	37	chr3	46480816	46480816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaacacctgtttcaggcGttccaccttatccatccgag	8	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:46480816G>A	uc003cpq.2	-	15	1917	c.1879C>T	c.(1879-1881)CGC>TGC	p.R627C	LTF_uc003fzr.2_Missense_Mutation_p.R583C|LTF_uc010hjh.2_Missense_Mutation_p.R625C|LTF_uc003cpr.2_Missense_Mutation_p.R614C	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	627	Transferrin-like 2.				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			central_nervous_system(2)|ovary(1)|lung(1)	4				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)	TGTTTCAGGCGTTCCACCTTA	0.547													A	46480816	G	A	46480816	3	1	189	1	0	0	0	0	1	0	0	0	9079	1145	40	1	265	1	LTF	3	46480816	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	235426	46480816	151541614	935	98792											
ALS2CL	259173	broad.mit.edu	37	chr3	46721994	46721994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacccctgggccgtggcGctgaccagcctgccacatgc	12	17	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:46721994G>A	uc003cqa.1	-	14	1664	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	ALS2CL_uc003cpz.1_Missense_Mutation_p.R7C|ALS2CL_uc003cqb.1_Missense_Mutation_p.R492C|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	492	MORN 6.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGGCCGTGGCGCTGACCAGCC	0.602													A	46721994	G	A	46721994	3	1	189	1	0	0	0	0	1	0	0	0	551	1087	38	1	1439	1	ALS2CL	3	46721994	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	241178	46721994	151300436	936	98793											
PRSS45	377047	broad.mit.edu	37	chr3	46784041	46784041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagaatccatctgccctcAacttcacaagccaatggccc	6	17	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:46784041A>G	uc010hjl.2	-	4	486	c.486T>C	c.(484-486)GTT>GTC	p.V162V	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	194	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						ATCTGCCCTCAACTTCACAAG	0.567													G	46784041	A	G	46784041	2	3	189	1	0	0	0	0	0	0	0	1	12629	117	5	3		3	PRSS45	3	46784041	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	62047	46784041	151238389	937	98794											
PTH1R	5745	broad.mit.edu	37	chr3	46944090	46944090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatggccacaccatAcaccgaggtctcagggacgc	10	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:46944090A>G	uc003cqm.2	+	14	1489	c.1286A>G	c.(1285-1287)TAC>TGC	p.Y429C	PTH1R_uc003cqn.2_Missense_Mutation_p.Y429C	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	429	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						GCCACACCATACACCGAGGTC	0.602									Ollier_disease_/_Maffuci_syndrome				G	46944090	A	G	46944090	3	3	189	1	0	0	0	0	1	0	0	0	12758	391	14	3	1332	3	PTH1R	3	46944090	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	160049	46944090	151078340	938	98795											
SETD2	29072	broad.mit.edu	37	chr3	47147559	47147559	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactccttcactcgagctttAaactctttatgatcgagtac	5	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47147559A>G	uc003cqs.2	-	6	4820	c.4767T>C	c.(4765-4767)TTT>TTC	p.F1589F	SETD2_uc003cqv.2_Silent_p.F1578F	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1589	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		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)		CTCGAGCTTTAAACTCTTTAT	0.408			N|F|S|Mis		clear cell renal carcinoma								G	47147559	A	G	47147559	2	3	189	1	0	0	0	0	0	0	0	1	14131	359	13	3		3	SETD2	3	47147559	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	203469	47147559	150874871	939	98796											
SETD2	29072	broad.mit.edu	37	chr3	47161907	47161907	+	Frame_Shift_Del	DEL	T	T	-													actctctatttcctgcctccTttttttaagaggccctctat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47161906_47161906CT>C	uc003cqv.3	-	2	4273	c.4187_4187AG>G	c.(4186-4188)aggfs	p.R1396fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.R1407fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1407					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)		TTCCTGCCTCCTTTTTTTAAG	0.388			"N, F, S, Mis"		clear cell renal carcinoma								-	47161907	T	-	47161907	7	5	189	1	0	1	0	1	0	0	0	0	14131	1608	56	0	3551	0	SETD2	3	47161907	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	14348	47161907	150860523	940	98797											
KIF9	64147	broad.mit.edu	37	chr3	47282448	47282448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcggttgatctcactAccttgctcattcttaaactc	4	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47282448A>G	uc010hjp.2	-	18	2371	c.1767T>C	c.(1765-1767)GGT>GGC	p.G589G	KIF9_uc003cqx.2_Silent_p.G589G|KIF9_uc003cqy.2_Silent_p.G524G|KIF9_uc011bat.1_RNA|uc003cqw.1_Intron	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	589					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		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)		TGATCTCACTACCTTGCTCAT	0.483													G	47282448	A	G	47282448	2	3	189	1	0	0	0	0	0	0	0	1	8310	378	14	3		3	KIF9	3	47282448	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	120541	47282448	150739982	941	98798											
KIF9	64147	broad.mit.edu	37	chr3	47318859	47318859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaacttttttcctagtAcccattctagctaaaaagaa	5	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47318859A>G	uc010hjp.2	-	3	610	c.6T>C	c.(4-6)GGT>GGC	p.G2G	KIF9_uc003cqx.2_Silent_p.G2G|KIF9_uc003cqy.2_Silent_p.G2G|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA|KIF9_uc003cra.3_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	2	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		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)		TTTTCCTAGTACCCATTCTAG	0.373													G	47318859	A	G	47318859	2	3	189	1	0	0	0	0	0	0	0	1	8310	378	14	3		3	KIF9	3	47318859	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	36411	47318859	150703571	942	98799											
PTPN23	25930	broad.mit.edu	37	chr3	47450682	47450682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgctgcaaaacctaaagCgcatcctggctaaggtgcag	11	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47450682C>T	uc003crf.1	+	17	1768	c.1672C>T	c.(1672-1674)CGC>TGC	p.R558C	PTPN23_uc011baw.1_Missense_Mutation_p.R523C|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R428C	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	558	Potential.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAACCTAAAGCGCATCCTGGC	0.607													T	47450682	C	T	47450682	3	4	189	1	0	0	0	0	1	0	0	0	12788	768	27	1	1738	1	PTPN23	3	47450682	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	131823	47450682	150571748	943	98800											
SCAP	22937	broad.mit.edu	37	chr3	47470135	47470135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcacaaatatctgctggAcataagccaccggggcaccc	8	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47470135A>G	uc003crh.1	-	4	533	c.278T>C	c.(277-279)GTC>GCC	p.V93A	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	93	Lumenal (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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TATCTGCTGGACATAAGCCAC	0.512													G	47470135	A	G	47470135	3	3	189	1	0	0	0	0	1	0	0	0	13877	275	10	3	3641	3	SCAP	3	47470135	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	19453	47470135	150552295	944	98801											
SMARCC1	6599	broad.mit.edu	37	chr3	47651722	47651722	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggccatgctgctgctgTtccatttgctgtcgtgctcg	11	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47651722T>C	uc003crq.2	-	26	2995	c.2877A>G	c.(2875-2877)GAA>GAG	p.E959E	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Silent_p.E850E	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	959					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			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCTGCTGCTGTTCCATTTGCT	0.552													C	47651722	T	C	47651722	2	2	189	1	0	0	0	0	0	0	0	1	14775	1722	60	3		3	SMARCC1	3	47651722	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	181587	47651722	150370708	945	98802											
SMARCC1	6599	broad.mit.edu	37	chr3	47747936	47747936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtgattctgttggtgTcggagggggaggcgaaggcg	19	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47747936T>C	uc003crq.2	-	10	1121	c.1003A>G	c.(1003-1005)ACA>GCA	p.T335A	SMARCC1_uc011bbd.1_Missense_Mutation_p.T226A	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	335	Poly-Pro.				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			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTGTTGGTGTCGGAGGGGGA	0.378													C	47747936	T	C	47747936	3	2	189	1	0	0	0	0	1	0	0	0	14775	1667	58	3	2390	3	SMARCC1	3	47747936	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	96214	47747936	150274494	946	98803											
DHX30	22907	broad.mit.edu	37	chr3	47887884	47887884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggacccacatcgggAcaccatcctcaacgccattg	8	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47887884A>G	uc003cru.2	+	11	1748	c.1322A>G	c.(1321-1323)GAC>GGC	p.D441G	DHX30_uc003crt.2_Missense_Mutation_p.D402G	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	441						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCACATCGGGACACCATCCTC	0.662													G	47887884	A	G	47887884	3	3	189	1	0	0	0	0	1	0	0	0	4504	275	10	3	1367	3	DHX30	3	47887884	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	139948	47887884	150134546	947	98804											
DHX30	22907	broad.mit.edu	37	chr3	47889727	47889727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgatccagcgccggggcCgggcgggccgctgccagtcc	17	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:47889727C>T	uc003cru.2	+	15	2770	c.2344C>T	c.(2344-2346)CGG>TGG	p.R782W	DHX30_uc003crt.2_Missense_Mutation_p.R743W|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	782	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		gcgccggggccgggcgggccg	0.498													T	47889727	C	T	47889727	3	4	189	1	0	0	0	0	1	0	0	0	4504	643	23	1	2405	1	DHX30	3	47889727	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1843	47889727	150132703	948	98805											
COL7A1	1294	broad.mit.edu	37	chr3	48604159	48604159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accactctctctccggggggAcctcgctcaccctgtcagac	9	18	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:48604159A>G	uc003ctz.2	-	111	8239	c.8238T>C	c.(8236-8238)GGT>GGC	p.G2746G	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2746	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCGGGGGGACCTCGCTCAC	0.642													G	48604159	A	G	48604159	2	3	189	1	0	0	0	0	0	0	0	1	3704	262	10	3		3	COL7A1	3	48604159	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	714432	48604159	149418271	949	98806											
COL7A1	1294	broad.mit.edu	37	chr3	48630051	48630051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgatgctgttggcgtagaGggcaatcacagtcacttggt	13	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:48630051G>T	uc003ctz.2	-	7	929	c.928C>A	c.(928-930)CTC>ATC	p.L310I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	310	Nonhelical region (NC1).|Fibronectin type-III 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGGCGTAGAGGGCAATCACA	0.632													T	48630051	G	T	48630051	3	4	189	1	0	0	0	0	1	0	0	0	3704	1000	35	5	8354	5	COL7A1	3	48630051	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	25892	48630051	149392379	950	98807											
CELSR3	1951	broad.mit.edu	37	chr3	48691211	48691211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacggaaatggtggggAtgggccatagctgagtggat	17	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:48691211A>G	uc003cul.2	-	9	5570	c.5289T>C	c.(5287-5289)CAT>CAC	p.H1763H	CELSR3_uc003cuf.1_Silent_p.H1833H|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1763	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AATGGTGGGGATGGGCCATAG	0.587													G	48691211	A	G	48691211	2	3	189	1	0	0	0	0	0	0	0	1	3223	330	12	3		3	CELSR3	3	48691211	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	61160	48691211	149331219	951	98808											
CELSR3	1951	broad.mit.edu	37	chr3	48696568	48696568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggaagttgttgagcacaGggctgttgtcattctggtca	13	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:48696568G>T	uc003cul.2	-	1	3781	c.3500C>A	c.(3499-3501)CCT>CAT	p.P1167H	CELSR3_uc003cuf.1_Missense_Mutation_p.P1237H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1167	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTGAGCACAGGGCTGTTGTC	0.547													T	48696568	G	T	48696568	3	4	189	1	0	0	0	0	1	0	0	0	3223	1000	35	5	6578	5	CELSR3	3	48696568	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5357	48696568	149325862	952	98809											
CELSR3	1951	broad.mit.edu	37	chr3	48699915	48699915	+	Frame_Shift_Del	DEL	C	C	-													ccaccgatatgcgcccttggCcccgtagtggcagctaagcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:48699914_48699914GC>G	uc003cuf.1	-	2	364	c.364_364GC>C	c.(364-366)ccafs	p.P122fs	CELSR3_uc003cul.3_Frame_Shift_Del_p.P52fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	52					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		TGCGCCCTTGGCCCCGTAGTG	0.667													-	48699915	C	-	48699915	7	5	189	1	0	1	0	1	0	0	0	0	3223	726	26	0	9925	0	CELSR3	3	48699915	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	3347	48699915	149322515	953	98810											
IP6K2	51447	broad.mit.edu	37	chr3	48730461	48730461	+	Frame_Shift_Del	DEL	T	T	-													tctgtttctaagacatgatgTtttttgtttgttgtccacct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:48730460_48730460GT>G	uc003cuq.3	-	2	816	c.355_355AC>C	c.(355-357)catfs	p.H119fs	IP6K2_uc003cup.3_Frame_Shift_Del_p.H119fs	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	119					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.H119H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AAGACATGATGTTTTTTGTTT	0.433													-	48730461	T	-	48730461	7	5	189	1	0	1	0	1	0	0	0	0	7789	1722	60	0	942	0	IP6K2	3	48730461	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	30546	48730461	149291969	954	98811											
LAMB2	3913	broad.mit.edu	37	chr3	49161917	49161917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttccagaagttgggggCacagcggtcacagctagggc	17	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49161917C>T	uc003cwe.2	-	22	3537	c.3238G>A	c.(3238-3240)GCC>ACC	p.A1080T	LAMB2_uc003cwf.1_Missense_Mutation_p.A1080T	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1080	Laminin EGF-like 11.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGTTGGGGGCACAGCGGTCA	0.647													T	49161917	C	T	49161917	3	4	189	1	0	0	0	0	1	0	0	0	8611	710	25	2	2202	2	LAMB2	3	49161917	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	431456	49161917	148860513	955	98812											
CCDC36	339834	broad.mit.edu	37	chr3	49249252	49249252	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaaagagatgctcagTattccttcaggctctgggta	9	8	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49249252T>C	uc003cwk.2	+	4	426	c.39T>C	c.(37-39)AGT>AGC	p.S13S	CCDC36_uc003cwl.3_Silent_p.S13S|CCDC36_uc011bck.1_Silent_p.S13S|CCDC36_uc010hkt.2_RNA	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	13										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGATGCTCAGTATTCCTTCAG	0.239													C	49249252	T	C	49249252	2	2	189	1	0	0	0	0	0	0	0	1	2808	1635	57	3		3	CCDC36	3	49249252	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	87335	49249252	148773178	956	98813											
BSN	8927	broad.mit.edu	37	chr3	49688405	49688405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccacctccagagactAccccaacccctgcgactcct	6	20	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49688405A>G	uc003cxe.3	+	4	1993	c.1879A>G	c.(1879-1881)ACC>GCC	p.T627A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	627					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCAGAGACTACCCCAACCCC	0.597													G	49688405	A	G	49688405	3	3	189	1	0	0	0	0	1	0	0	0	1530	391	14	3	1893	3	BSN	3	49688405	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	439153	49688405	148334025	957	98814											
BSN	8927	broad.mit.edu	37	chr3	49695210	49695210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagggccaactgccatcAgcccctacctgcctggcatc	9	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49695210A>G	uc003cxe.3	+	5	8335	c.8221A>G	c.(8221-8223)AGC>GGC	p.S2741G		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2741					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AACTGCCATCAGCCCCTACCT	0.632													G	49695210	A	G	49695210	3	3	189	1	0	0	0	0	1	0	0	0	1530	188	7	3	8239	3	BSN	3	49695210	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6805	49695210	148327220	958	98815											
BSN	8927	broad.mit.edu	37	chr3	49700635	49700635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccatgaggcccggcccCactctcagcccagctctgct	10	19	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49700635C>T	uc003cxe.3	+	7	11158	c.11044C>T	c.(11044-11046)CAC>TAC	p.H3682Y		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3682					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCCGGCCCCACTCTCAGCC	0.657													T	49700635	C	T	49700635	3	4	189	1	0	0	0	0	1	0	0	0	1530	594	21	4	11070	4	BSN	3	49700635	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5425	49700635	148321795	959	98816											
BSN	8927	broad.mit.edu	37	chr3	49701969	49701969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggggcagccgagcaaGctggcaaactgacggaaggt	17	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49701969G>T	uc003cxe.3	+	9	11836	c.11722G>T	c.(11722-11724)GCT>TCT	p.A3908S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3908					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCGAGCAAGCTGGCAAACT	0.632													T	49701969	G	T	49701969	3	4	189	1	0	0	0	0	1	0	0	0	1530	971	34	5	11756	5	BSN	3	49701969	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1334	49701969	148320461	960	98817											
RNF123	63891	broad.mit.edu	37	chr3	49737143	49737143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctccaagtggcggttgCggggccagcccaccgtcctc	14	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49737143C>T	uc003cxh.2	+	12	1008	c.922C>T	c.(922-924)CGG>TGG	p.R308W	RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	308						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGGCGGTTGCGGGGCCAGCC	0.657													T	49737143	C	T	49737143	3	4	189	1	0	0	0	0	1	0	0	0	13433	759	27	1	964	1	RNF123	3	49737143	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	35174	49737143	148285287	961	98818											
GMPPB	29925	broad.mit.edu	37	chr3	49760738	49760741	+	Splice_Site	DEL	GGAA	GGAA	-													ggagattcggattcccagctGgaaggaagaggcccccccag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49760737_49760740TGGAA>T	uc003cxl.1	-	3	436	c.211_splice	c.e3-1	p.L71_splice	GMPPB_uc003cxk.1_Splice_Site_p.L71_splice	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	71					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GATTCCCAGCTGGAAGGAAGAGGC	0.583													-	49760741	GGAA	-	49760738	8	5	189	1	0	1	0	1	0	0	1	0	6495	1363	47	0		0	GMPPB	3	49760738	Splice_Site	DEL	GGAA	TCGA-CG-5721-01A-11D-1600-08	23595	49760738	148261692	962	98819											
MST1R	4486	broad.mit.edu	37	chr3	49936349	49936349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagacgactgacatccCgctgcacgggctgcccactg	10	18	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49936349C>T	uc003cxy.3	-	3	1763	c.1499G>A	c.(1498-1500)CGG>CAG	p.R500Q	MST1R_uc011bdd.1_Missense_Mutation_p.R500Q|MST1R_uc011bde.1_Missense_Mutation_p.R500Q|MST1R_uc011bdf.1_Intron|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	500	Extracellular (Potential).|Sema.				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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACTGACATCCCGCTGCACGGG	0.597													T	49936349	C	T	49936349	3	4	189	1	0	0	0	0	1	0	0	0	9891	652	23	1	2775	1	MST1R	3	49936349	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	175611	49936349	148086081	963	98820											
MST1R	4486	broad.mit.edu	37	chr3	49940944	49940944	+	Frame_Shift_Del	DEL	G	G	-													aagtcgcgagaggccgcgtaGggggtgcgcgggcactgcca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:49940943_49940943AG>A	uc003cxy.4	-	0	364	c.100_100CT>T	c.(100-102)tacfs	p.Y34fs	MST1R_uc011bdc.2_Frame_Shift_Del_p.Y34fs|MST1R_uc011bdd.2_Frame_Shift_Del_p.Y34fs|MST1R_uc011bde.1_Frame_Shift_Del_p.Y34fs|MST1R_uc011bdf.1_Frame_Shift_Del_p.Y34fs|MST1R_uc011bdg.2_Frame_Shift_Del_p.Y34fs	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	34	Sema.				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)		GAGGCCGCGTAGGGGGTGCGC	0.667													-	49940944	G	-	49940944	7	5	189	1	0	1	0	1	0	0	0	0	9891	987	35	0	4183	0	MST1R	3	49940944	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	4595	49940944	148081486	964	98821											
GNAT1	2779	broad.mit.edu	37	chr3	50231251	50231251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgagcaggacgtgctgcGctcgcgagtcaagaccactg	13	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:50231251G>A	uc003cym.2	+	5	631	c.515G>A	c.(514-516)CGC>CAC	p.R172H	GNAT1_uc003cyl.2_Missense_Mutation_p.R172H	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	172	GTP (By similarity).				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GACGTGCTGCGCTCGCGAGTC	0.652													A	50231251	G	A	50231251	3	1	189	1	0	0	0	0	1	0	0	0	6511	1087	38	1	533	1	GNAT1	3	50231251	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	290307	50231251	147791179	965	98822											
IFRD2	7866	broad.mit.edu	37	chr3	50326260	50326260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcacggcgcggaaagTagagcgctggcgccgacgat	17	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:50326260T>C	uc011bdp.1	-	9	1315	c.1186A>G	c.(1186-1188)ACT>GCT	p.T396A	IFRD2_uc003czb.2_Missense_Mutation_p.T498A	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	396							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGCGGAAAGTAGAGCGCTGG	0.592													C	50326260	T	C	50326260	3	2	189	1	0	0	0	0	1	0	0	0	7554	1638	57	3	350	3	IFRD2	3	50326260	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	95009	50326260	147696170	966	98823											
HYAL1	3373	broad.mit.edu	37	chr3	50338063	50338063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtgagctggatggagaAactggcagggttaaggagga	19	4	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:50338063A>G	uc003czp.2	-	4	1291	c.1159T>C	c.(1159-1161)TTC>CTC	p.F387L	HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.F205L|HYAL1_uc003czo.2_Missense_Mutation_p.F128L|HYAL1_uc003czq.2_Missense_Mutation_p.F357L|HYAL1_uc003czr.2_Missense_Mutation_p.F387L|HYAL1_uc003czn.2_Missense_Mutation_p.F48L|HYAL1_uc003czs.2_Missense_Mutation_p.F387L|HYAL1_uc003czt.2_3'UTR	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	387	EGF-like.					extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	TGGATGGAGAAACTGGCAGGG	0.632													G	50338063	A	G	50338063	3	3	189	1	0	0	0	0	1	0	0	0	7463	14	1	3	152	3	HYAL1	3	50338063	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11803	50338063	147684367	967	98824											
HYAL2	8692	broad.mit.edu	37	chr3	50357862	50357862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcttgagctccatgGcccatgacaccgccagcacc	11	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:50357862G>A	uc003czu.2	-	2	279	c.59C>T	c.(58-60)GCC>GTC	p.A20V	HYAL2_uc003czx.2_Missense_Mutation_p.A20V|HYAL2_uc003czv.2_Missense_Mutation_p.A20V|HYAL2_uc003czw.2_Missense_Mutation_p.A20V|HYAL2_uc010hlj.2_Missense_Mutation_p.A20V	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	20						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GAGCTCCATGGCCCATGACAC	0.667													A	50357862	G	A	50357862	3	1	189	1	0	0	0	0	1	0	0	0	7464	1203	42	2	1374	2	HYAL2	3	50357862	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	19799	50357862	147664568	968	98825											
CACNA2D2	9254	broad.mit.edu	37	chr3	50416569	50416569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagacgtcctgcacgcggTcctcaccaccatccgtgaac	8	17	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:50416569T>C	uc003daq.2	-	12	1252	c.1214A>G	c.(1213-1215)GAC>GGC	p.D405G	CACNA2D2_uc003dap.2_Missense_Mutation_p.D405G	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	405	VWFA.|Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTGCACGCGGTCCTCACCACC	0.592													C	50416569	T	C	50416569	3	2	189	1	0	0	0	0	1	0	0	0	2549	1667	58	3	2356	3	CACNA2D2	3	50416569	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	58707	50416569	147605861	969	98826											
RBM15B	29890	broad.mit.edu	37	chr3	51430017	51430017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatagggctaaggtggCcatgtcgggccgagtgattg	17	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:51430017C>T	uc003dbd.2	+	1	1287	c.1187C>T	c.(1186-1188)GCC>GTC	p.A396V		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	396	RRM 2.				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				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTAAGGTGGCCATGTCGGGC	0.607													T	51430017	C	T	51430017	3	4	189	1	0	0	0	0	1	0	0	0	13117	739	26	2	1189	2	RBM15B	3	51430017	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1013448	51430017	146592413	970	98827											
VPRBP	9730	broad.mit.edu	37	chr3	51457448	51457448	+	Frame_Shift_Del	DEL	T	T	-													ggaagatgtctgtccagctgTttttttatggctgggctttg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:51457447_51457447GT>G	uc003dbe.2	-	13	3003	c.2818_2818AC>C	c.(2818-2820)cagfs	p.Q940fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q939fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q269fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	993					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)		CTGTCCAGCTGTTTTTTTATG	0.502													-	51457448	T	-	51457448	7	5	189	1	0	1	0	1	0	0	0	0	17182	1722	60	0	1591	0	VPRBP	3	51457448	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	27431	51457448	146564982	971	98828											
TLR9	54106	broad.mit.edu	37	chr3	52256132	52256132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcttgagggcgttggCgctaaggttgagctctcgca	14	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52256132C>T	uc003dda.1	-	2	2834	c.2200G>A	c.(2200-2202)GCC>ACC	p.A734T	TLR9_uc003ddb.2_Missense_Mutation_p.A831T	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	734	LRR 25.|Extracellular (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGGGCGTTGGCGCTAAGGTTG	0.617													T	52256132	C	T	52256132	3	4	189	1	0	0	0	0	1	0	0	0	15955	768	27	1	902	1	TLR9	3	52256132	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	798684	52256132	145766298	972	98829											
TLR9	54106	broad.mit.edu	37	chr3	52257592	52257592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcccacatcgagcacaCgcagggcggtcagattggcc	12	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52257592C>T	uc003dda.1	-	2	1374	c.740G>A	c.(739-741)CGT>CAT	p.R247H	TLR9_uc003ddb.2_Missense_Mutation_p.R344H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	247	LRR 8.|Extracellular (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ATCGAGCACACGCAGGGCGGT	0.627													T	52257592	C	T	52257592	3	4	189	1	0	0	0	0	1	0	0	0	15955	536	19	1	2362	1	TLR9	3	52257592	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1460	52257592	145764838	973	98830											
TLR9	54106	broad.mit.edu	37	chr3	52258032	52258032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatggggctgaggccaacCggcgggcagttccacttgag	16	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52258032C>T	uc003dda.1	-	2	934	c.300G>A	c.(298-300)CCG>CCA	p.P100P	TLR9_uc003ddb.2_Silent_p.P197P|TLR9_uc003ddc.1_Silent_p.P85P	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	100	LRR 2.|Extracellular (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGAGGCCAACCGGCGGGCAGT	0.597													T	52258032	C	T	52258032	2	4	189	1	0	0	0	0	0	0	0	1	15955	639	23	1		1	TLR9	3	52258032	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	440	52258032	145764398	974	98831											
TWF2	11344	broad.mit.edu	37	chr3	52265209	52265209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaggtgccgcacaggaCgacaggtgtttctggtaccc	16	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52265209C>T	uc003ddd.2	-	5	568	c.417G>A	c.(415-417)TCG>TCA	p.S139S	TLR9_uc003ddb.2_5'UTR|TLR9_uc003ddc.1_5'Flank|TWF2_uc010hmc.2_Silent_p.S139S	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN	twinfilin-like protein	139	ADF-H 1.					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding			stomach(1)|ovary(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGCACAGGACGACAGGTGTT	0.622													T	52265209	C	T	52265209	2	4	189	1	0	0	0	0	0	0	0	1	16779	523	19	1		1	TWF2	3	52265209	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7177	52265209	145757221	975	98832											
DNAH1	25981	broad.mit.edu	37	chr3	52402790	52402790	+	Frame_Shift_Del	DEL	G	G	-													ttctcctcgttcatccgggcGggggccatcacctccgacac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52402789_52402789CG>C	uc011bef.2	+	36	6059	c.5798_5798CG>C	c.(5797-5799)gcgfs	p.A1933fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1933	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)		TTCATCCGGGCGGGGGCCATC	0.592													-	52402790	G	-	52402790	7	5	189	1	0	1	0	1	0	0	0	0	4597	1103	39	0	5941	0	DNAH1	3	52402790	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	137581	52402790	145619640	976	98833											
BAP1	8314	broad.mit.edu	37	chr3	52439911	52439911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtctgaatcagctctggCtgtgttactcttatcagcta	10	9	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52439911C>T	uc003ddx.2	-	10	916	c.801G>A	c.(799-801)CAG>CAA	p.Q267Q	BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	267					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			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				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)		TCAGCTCTGGCTGTGTTACTC	0.527			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52439911	C	T	52439911	2	4	189	1	0	0	0	0	0	0	0	1	1311	796	28	2		2	BAP1	3	52439911	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	37121	52439911	145582519	977	98834											
SEMA3G	56920	broad.mit.edu	37	chr3	52469661	52469661	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccgattgtgctcggcAtgcacccggctcttcatctt	11	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52469661A>G	uc003dea.1	-	16	2307	c.2307T>C	c.(2305-2307)CAT>CAC	p.H769H		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	769					multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				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)		TGTGCTCGGCATGCACCCGGC	0.687													G	52469661	A	G	52469661	2	3	189	1	0	0	0	0	0	0	0	1	14030	214	8	3		3	SEMA3G	3	52469661	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	29750	52469661	145552769	978	98835											
SEMA3G	56920	broad.mit.edu	37	chr3	52475363	52475363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccgagaagaagaagtAcaccttgtcattgtcctggt	10	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52475363A>G	uc003dea.1	-	7	730	c.730T>C	c.(730-732)TAC>CAC	p.Y244H		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	244	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				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)		AAGAAGAAGTACACCTTGTCA	0.632													G	52475363	A	G	52475363	3	3	189	1	0	0	0	0	1	0	0	0	14030	391	14	3	1658	3	SEMA3G	3	52475363	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5702	52475363	145547067	979	98836											
TNNC1	7134	broad.mit.edu	37	chr3	52485421	52485421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttaccatcatagtcgatgCggccgtcgttgttcttgtct	10	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52485421C>T	uc003deb.2	-	5	466	c.440G>A	c.(439-441)CGC>CAC	p.R147H		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	147	3.|EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	ATAGTCGATGCGGCCGTCGTT	0.592													T	52485421	C	T	52485421	3	4	189	1	0	0	0	0	1	0	0	0	16321	768	27	1	53	1	TNNC1	3	52485421	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10058	52485421	145537009	980	98837											
STAB1	23166	broad.mit.edu	37	chr3	52551026	52551026	+	Frame_Shift_Del	DEL	G	G	-													acccctgcgcccacggccatGggggctgctcccctcatgcc					rs72947529	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52551025_52551025TG>T	uc003dej.3	+	41	4463	c.4389_4389TG>T	c.(4387-4389)catfs	p.H1463fs	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1463	EGF-like 11.				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)		CCCACGGCCATGGGGGCTGCT	0.677													-	52551026	G	-	52551026	7	5	189	1	0	1	0	1	0	0	0	0	15236	1348	47	0	4556	0	STAB1	3	52551026	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	65605	52551026	145471404	981	98838											
NT5DC2	64943	broad.mit.edu	37	chr3	52563198	52563198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggatgtcacgggcggTactgaagatctcggggtgca	16	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52563198T>C	uc003deo.2	-	2	698	c.274A>G	c.(274-276)ACC>GCC	p.T92A	NT5DC2_uc003dem.2_5'Flank|NT5DC2_uc003den.2_Missense_Mutation_p.T129A|NT5DC2_uc010hmi.2_Missense_Mutation_p.T129A|NT5DC2_uc010hmj.2_5'UTR	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	92							hydrolase activity|metal ion binding				0				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)		TCACGGGCGGTACTGAAGATC	0.587													C	52563198	T	C	52563198	3	2	189	1	0	0	0	0	1	0	0	0	10691	1638	57	3	1340	3	NT5DC2	3	52563198	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	12172	52563198	145459232	982	98839											
PBRM1	55193	broad.mit.edu	37	chr3	52637747	52637747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatatttctgaatctgTcctataacagcatcaagagt	5	8	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52637747T>C	uc003des.2	-	17	2581	c.2569A>G	c.(2569-2571)ACA>GCA	p.T857A	PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Missense_Mutation_p.T857A|PBRM1_uc003der.2_Missense_Mutation_p.T825A|PBRM1_uc003det.2_Missense_Mutation_p.T872A|PBRM1_uc003deu.2_Missense_Mutation_p.T872A|PBRM1_uc003dev.2_Intron|PBRM1_uc003dew.2_Missense_Mutation_p.T857A|PBRM1_uc010hmk.1_Missense_Mutation_p.T857A|PBRM1_uc003dey.2_Missense_Mutation_p.T857A|PBRM1_uc003dez.1_Missense_Mutation_p.T857A|PBRM1_uc003dfb.1_Missense_Mutation_p.T770A|PBRM1_uc003dfa.1_Missense_Mutation_p.T203A	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	857	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			kidney(136)|breast(4)	140				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)		TCTGAATCTGTCCTATAACAG	0.308			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								C	52637747	T	C	52637747	3	2	189	1	0	0	0	0	1	0	0	0	11491	1681	58	3	2387	3	PBRM1	3	52637747	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	74549	52637747	145384683	983	98840											
PBRM1	55193	broad.mit.edu	37	chr3	52643791	52643792	+	Frame_Shift_Ins	INS	-	-	T													tttttccatgtccatgggctINSttttaatagtcagatagtag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52643790_52643791C>CT	uc003des.2	-	15	2117_2118	c.2105_2106G>AG	c.(2104-2106)aagfs	p.K702fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Ins_p.K702fs|PBRM1_uc003der.2_Frame_Shift_Ins_p.K670fs|PBRM1_uc003det.2_Frame_Shift_Ins_p.K717fs|PBRM1_uc003deu.2_Frame_Shift_Ins_p.K717fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Ins_p.K702fs|PBRM1_uc010hmk.1_Frame_Shift_Ins_p.K702fs|PBRM1_uc003dey.2_Frame_Shift_Ins_p.K702fs|PBRM1_uc003dez.1_Frame_Shift_Ins_p.K702fs|PBRM1_uc003dfb.1_Frame_Shift_Ins_p.K615fs|PBRM1_uc003dfa.1_Frame_Shift_Ins_p.K48fs|PBRM1_uc003dfc.3_Frame_Shift_Ins_p.K69fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	702	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin 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)		TGTCCATGGGCTTTTTAATAGT	0.416			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								T	52643792	-	T	52643791	7	5	189	1	0	1	1	0	0	0	0	0	11491	1609	56	0	2855	0	PBRM1	3	52643791	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	6044	52643791	145378639	984	98841											
PBRM1	55193	broad.mit.edu	37	chr3	52643943	52643944	+	Frame_Shift_Ins	INS	-	-	T													ttggagtcatgtattttgatINStttttaggagaaatgccact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52643942_52643943A>AT	uc003des.2	-	15	1965_1966	c.1953_1954T>AT	c.(1951-1956)aaatcafs	p.K651fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Ins_p.K651fs|PBRM1_uc003der.2_Frame_Shift_Ins_p.K619fs|PBRM1_uc003det.2_Frame_Shift_Ins_p.K666fs|PBRM1_uc003deu.2_Frame_Shift_Ins_p.K666fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Ins_p.K651fs|PBRM1_uc010hmk.1_Frame_Shift_Ins_p.K651fs|PBRM1_uc003dey.2_Frame_Shift_Ins_p.K651fs|PBRM1_uc003dez.1_Frame_Shift_Ins_p.K651fs|PBRM1_uc003dfb.1_Frame_Shift_Ins_p.K564fs|PBRM1_uc003dfa.1_5'UTR|PBRM1_uc003dfc.3_Frame_Shift_Ins_p.K18fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	651					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.S652fs*13(3)|p.S652*(1)|p.S620fs*13(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)		ATGTATTTTGATTTTTTAGGAG	0.347			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								T	52643944	-	T	52643943	7	5	189	1	0	1	1	0	0	0	0	0	11491	1490	52	0	3007	0	PBRM1	3	52643943	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	152	52643943	145378487	985	98842											
NEK4	6787	broad.mit.edu	37	chr3	52777458	52777458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgctacactcagagaCgctttcctcactgaagggcc	10	15	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52777458C>T	uc003dfq.3	-	12	2103	c.1914G>A	c.(1912-1914)GCG>GCA	p.A638A	NEK4_uc011bej.1_Silent_p.A549A|NEK4_uc003dfr.2_Silent_p.A592A	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	638					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CACTCAGAGACGCTTTCCTCA	0.542													T	52777458	C	T	52777458	2	4	189	1	0	0	0	0	0	0	0	1	10326	523	19	1		1	NEK4	3	52777458	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	133515	52777458	145244972	986	98843											
ITIH1	3697	broad.mit.edu	37	chr3	52823759	52823759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcggctgggaatcgcaaAccctgccacggactttcagt	13	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:52823759A>G	uc003dfs.2	+	19	2234	c.2210A>G	c.(2209-2211)AAC>AGC	p.N737S	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.N338S|ITIH1_uc010hmo.1_Missense_Mutation_p.N291S|ITIH1_uc003dfu.2_Missense_Mutation_p.N103S	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	737	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				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)		GGAATCGCAAACCCTGCCACG	0.577													G	52823759	A	G	52823759	3	3	189	1	0	0	0	0	1	0	0	0	7903	43	2	3	2284	3	ITIH1	3	52823759	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	46301	52823759	145198671	987	98844											
CACNA1D	776	broad.mit.edu	37	chr3	53694220	53694220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcgggaaccactcaagCggcaaatctggaggctttga	14	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:53694220C>T	uc003dgv.3	+	5	847	c.684C>T	c.(682-684)AGC>AGT	p.S228S	CACNA1D_uc003dgu.3_Silent_p.S228S|CACNA1D_uc003dgy.3_Silent_p.S228S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	228	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	ACCACTCAAGCGGCAAATCTG	0.433													T	53694220	C	T	53694220	2	4	189	1	0	0	0	0	0	0	0	1	2541	767	27	1		1	CACNA1D	3	53694220	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	870461	53694220	144328210	988	98845											
CACNA1D	776	broad.mit.edu	37	chr3	53844236	53844236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccgacatctcctaccggActttcacaccagccagcctg	7	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:53844236A>G	uc003dgv.3	+	47	6266	c.6103A>G	c.(6103-6105)ACT>GCT	p.T2035A	CACNA1D_uc003dgu.3_Missense_Mutation_p.T2055A|CACNA1D_uc003dgy.3_Missense_Mutation_p.T2011A|CACNA1D_uc003dgw.3_Missense_Mutation_p.T1702A|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2035	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	CTCCTACCGGACTTTCACACC	0.617													G	53844236	A	G	53844236	3	3	189	1	0	0	0	0	1	0	0	0	2541	275	10	3	6461	3	CACNA1D	3	53844236	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	150016	53844236	144178194	989	98846											
CHDH	55349	broad.mit.edu	37	chr3	53851805	53851805	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagcagcaactgtctTagcgctgggtggccagcgtc	12	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:53851805T>C	uc003dgz.2	-	9	2224	c.1784A>G	c.(1783-1785)TAA>TGA	p.*595*		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	595					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCAACTGTCTTAGCGCTGGGT	0.582													C	53851805	T	C	53851805	2	2	189	1	0	0	0	0	0	0	0	1	3333	1761	61	3		3	CHDH	3	53851805	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7569	53851805	144170625	990	98847											
CHDH	55349	broad.mit.edu	37	chr3	53856520	53856520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcagtccactcacccTgtggctctggccattcttga	9	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:53856520T>C	uc003dgz.2	-	4	1293	c.853A>G	c.(853-855)AGG>GGG	p.R285G		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	285					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCACTCACCCTGTGGCTCTGG	0.637													C	53856520	T	C	53856520	3	2	189	1	0	0	0	0	1	0	0	0	3333	1579	55	3	955	3	CHDH	3	53856520	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4715	53856520	144165910	991	98848											
ACTR8	93973	broad.mit.edu	37	chr3	53910110	53910111	+	Splice_Site	INS	-	-	G													ctgatggaccacaatccctgINSgggggggaaaagaaaaggca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:53910109_53910110T>TG	uc003dhd.3	-	7	880	c.779_splice	c.e7-1	p.G260_splice	ACTR8_uc003dhb.3_Splice_Site_p.G10_splice|ACTR8_uc003dhc.3_Splice_Site_p.G149_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	260					DNA recombination|DNA repair|cell division|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)		CCACAATCCCTGGGGGGGGAAA	0.515													G	53910111	-	G	53910110	8	5	189	1	0	1	1	0	0	0	1	0	217	1363	47	0		0	ACTR8	3	53910110	Splice_Site	INS	-	TCGA-CG-5721-01A-11D-1600-08	53590	53910110	144112320	992	98849											
CACNA2D3	55799	broad.mit.edu	37	chr3	54661852	54661852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaacttttcgccaaaggAattggaatgttggatatagc	10	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:54661852A>G	uc003dhf.2	+	10	1050	c.1002A>G	c.(1000-1002)GGA>GGG	p.G334G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.G240G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.G68G	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	334	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCGCCAAAGGAATTGGAATGT	0.423													G	54661852	A	G	54661852	2	3	189	1	0	0	0	0	0	0	0	1	2550	233	9	3		3	CACNA2D3	3	54661852	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	751742	54661852	143360578	993	98850											
CACNA2D3	55799	broad.mit.edu	37	chr3	54919520	54919520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtcatgttcttaggtccTactgcaacactgacctacac	6	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:54919520T>C	uc003dhf.2	+	23	2011	c.1963T>C	c.(1963-1965)TAC>CAC	p.Y655H	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.Y561H|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.Y389H|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	655	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCTTAGGTCCTACTGCAACAC	0.473													C	54919520	T	C	54919520	3	2	189	1	0	0	0	0	1	0	0	0	2550	1522	53	3	2053	3	CACNA2D3	3	54919520	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	257668	54919520	143102910	994	98851											
LRTM1	57408	broad.mit.edu	37	chr3	54959015	54959015	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgttggacaagtttaAggtcatgagccatggcactg	13	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:54959015A>G	uc003dhl.2	-	2	369	c.235T>C	c.(235-237)TTA>CTA	p.L79L	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	79	Extracellular (Potential).|LRR 2.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GACAAGTTTAAGGTCATGAGC	0.443													G	54959015	A	G	54959015	2	3	189	1	0	0	0	0	0	0	0	1	9044	69	3	3		3	LRTM1	3	54959015	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	39495	54959015	143063415	995	98852											
WNT5A	7474	broad.mit.edu	37	chr3	55513396	55513396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccacagtgctgcagttccAccttcgatgtcggaattgat	9	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:55513396A>G	uc003dhn.2	-	3	655	c.337T>C	c.(337-339)TGG>CGG	p.W113R	WNT5A_uc003dhm.2_Missense_Mutation_p.W98R|WNT5A_uc010hmw.2_Missense_Mutation_p.W98R|WNT5A_uc010hmx.2_Missense_Mutation_p.W24R	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	113					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				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CTGCAGTTCCACCTTCGATGT	0.413													G	55513396	A	G	55513396	3	3	189	1	0	0	0	0	1	0	0	0	17388	159	6	3	817	3	WNT5A	3	55513396	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	554381	55513396	142509034	996	98853											
C3orf63	23272	broad.mit.edu	37	chr3	56681185	56681185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgtaaaaactgagctAtttttaatacatctggcatg	6	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:56681185A>G	uc003did.3	-	14	1681	c.1580T>C	c.(1579-1581)ATA>ACA	p.I527T	C3orf63_uc003dic.3_Missense_Mutation_p.I131T|C3orf63_uc003die.3_Missense_Mutation_p.I527T	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	527										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AAACTGAGCTATTTTTAATAC	0.333													G	56681185	A	G	56681185	3	3	189	1	0	0	0	0	1	0	0	0	2239	449	16	3	3536	3	C3orf63	3	56681185	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1167789	56681185	141341245	997	98854											
APPL1	26060	broad.mit.edu	37	chr3	57294173	57294173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccacagacacaagttacaAggctcacggtgagttccaca	8	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:57294173A>G	uc003dio.2	+	18	1834	c.1687A>G	c.(1687-1689)AGG>GGG	p.R563G	APPL1_uc010hnb.2_Missense_Mutation_p.R563G|APPL1_uc011bey.1_Missense_Mutation_p.R546G	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	563	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ACAAGTTACAAGGCTCACGGT	0.294													G	57294173	A	G	57294173	3	3	189	1	0	0	0	0	1	0	0	0	817	63	3	3	1757	3	APPL1	3	57294173	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	612988	57294173	140728257	998	98855											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-													atacagcattgccatcacatGggggggacaccacattccaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:58089787_58089787TG>T	uc003djj.2	+	9	1750	c.1585_1585TG>T	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					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)		TGCCATCACATGGGGGGGACA	0.592													-	58089788	G	-	58089788	7	5	189	1	0	1	0	1	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	795615	58089788	139932642	999	98856											
FLNB	2317	broad.mit.edu	37	chr3	58110079	58110079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttccgggaagctaccAccgactttacagttgactct	9	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:58110079A>G	uc003djj.2	+	22	3910	c.3745A>G	c.(3745-3747)ACC>GCC	p.T1249A	FLNB_uc010hne.2_Missense_Mutation_p.T1249A|FLNB_uc003djk.2_Missense_Mutation_p.T1249A|FLNB_uc010hnf.2_Missense_Mutation_p.T1249A|FLNB_uc003djl.2_Missense_Mutation_p.T1080A|FLNB_uc003djm.2_Missense_Mutation_p.T1080A	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1249	Filamin 11.|Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGCTACCACCGACTTTAC	0.572													G	58110079	A	G	58110079	3	3	189	1	0	0	0	0	1	0	0	0	5934	159	6	3	3831	3	FLNB	3	58110079	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20291	58110079	139912351	1000	98857											
FLNB	2317	broad.mit.edu	37	chr3	58131754	58131754	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaactgccaccttcaccatCgtcacagaggatgcaggaga	9	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:58131754C>T	uc003djj.2	+	33	5697	c.5532C>T	c.(5530-5532)ATC>ATT	p.I1844I	FLNB_uc010hne.2_Silent_p.I1875I|FLNB_uc003djk.2_Silent_p.I1833I|FLNB_uc010hnf.2_Silent_p.I1820I|FLNB_uc003djl.2_Silent_p.I1664I|FLNB_uc003djm.2_Silent_p.I1651I	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1844	Filamin 17.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTTCACCATCGTCACAGAGG	0.527													T	58131754	C	T	58131754	2	4	189	1	0	0	0	0	0	0	0	1	5934	874	31	1		1	FLNB	3	58131754	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21675	58131754	139890676	1001	98858											
ABHD6	57406	broad.mit.edu	37	chr3	58260523	58260523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctctgctcctatgtccGcttcaaggtgccccagcagg	10	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:58260523G>A	uc003djs.3	+	6	1072	c.662G>A	c.(661-663)CGC>CAC	p.R221H	ABHD6_uc003djr.2_Missense_Mutation_p.R221H|ABHD6_uc003djt.3_Missense_Mutation_p.R221H	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	221	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				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)		TCCTATGTCCGCTTCAAGGTG	0.587													A	58260523	G	A	58260523	3	1	189	1	0	0	0	0	1	0	0	0	86	1087	38	1	680	1	ABHD6	3	58260523	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	128769	58260523	139761907	1002	98859											
C3orf67	200844	broad.mit.edu	37	chr3	58870331	58870331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttggcgaagtttagTcatgtttagcagctgtgtga	12	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:58870331T>C	uc003dkt.1	-	7	689	c.280A>G	c.(280-282)ACT>GCT	p.T94A	uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_Missense_Mutation_p.T2A	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	94											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CGAAGTTTAGTCATGTTTAGC	0.373													C	58870331	T	C	58870331	3	2	189	1	0	0	0	0	1	0	0	0	2241	1667	58	3	1451	3	C3orf67	3	58870331	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	609808	58870331	139152099	1003	98860											
PTPRG	5793	broad.mit.edu	37	chr3	61975397	61975397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagtatgcgcgtgttgggGaagaataccaggaactgcaa	13	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:61975397G>A	uc003dlb.2	+	3	1008	c.289G>A	c.(289-291)GAA>AAA	p.E97K	PTPRG_uc003dlc.2_Missense_Mutation_p.E97K	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	97	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCGTGTTGGGGAAGAATACCA	0.488													A	61975397	G	A	61975397	3	1	189	1	0	0	0	0	1	0	0	0	12802	1175	41	4	299	4	PTPRG	3	61975397	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3105066	61975397	136047033	1004	98861											
CADPS	8618	broad.mit.edu	37	chr3	62452032	62452032	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctttgcaaccaagagtgtTatcatttctttaacagtttc	5	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:62452032T>A	uc003dll.2	-	25	3894	c.3534A>T	c.(3532-3534)ATA>ATT	p.I1178I	CADPS_uc003dlj.1_Silent_p.I133I|CADPS_uc003dlk.1_Silent_p.I626I|CADPS_uc003dlm.2_Silent_p.I1139I|CADPS_uc003dln.2_Silent_p.I1099I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1178	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		CCAAGAGTGTTATCATTTCTT	0.338													A	62452032	T	A	62452032	2	1	189	1	0	0	0	0	0	0	0	1	2570	1744	61	5		5	CADPS	3	62452032	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	476635	62452032	135570398	1005	98862											
THOC7	80145	broad.mit.edu	37	chr3	63824156	63824156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacagcgtgctcagcaTacgttggtactggctatatc	11	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:63824156T>C	uc003dlt.3	-	3	288	c.157A>G	c.(157-159)ATG>GTG	p.M53V	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_5'UTR	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	53	Interaction with THOC5.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		GTGCTCAGCATACGTTGGTAC	0.303													C	63824156	T	C	63824156	3	2	189	1	0	0	0	0	1	0	0	0	15867	1406	49	3	481	3	THOC7	3	63824156	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1372124	63824156	134198274	1006	98863											
ATXN7	6314	broad.mit.edu	37	chr3	63898589	63898589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggcttccaaacttccTgggaaggacggtgagtgtcc	14	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:63898589T>C	uc003dlw.3	+	3	868	c.315T>C	c.(313-315)CCT>CCC	p.P105P	ATXN7_uc003dlv.2_Silent_p.P105P|ATXN7_uc010hnv.2_Silent_p.P105P|ATXN7_uc010hnu.1_RNA	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	105				P -> H (in Ref. 2; AAC19162).	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				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAAACTTCCTGGGAAGGACG	0.537													C	63898589	T	C	63898589	2	2	189	1	0	0	0	0	0	0	0	1	1215	1567	55	3		3	ATXN7	3	63898589	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	74433	63898589	134123841	1007	98864											
ATXN7	6314	broad.mit.edu	37	chr3	63976414	63976414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgttttctcttgcagTtttgcacatttgggagccgg	12	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:63976414T>C	uc003dlw.3	+	11	2114	c.1561T>C	c.(1561-1563)TTT>CTT	p.F521L	ATXN7_uc003dlv.2_Missense_Mutation_p.F521L|ATXN7_uc010hnv.2_Missense_Mutation_p.F521L|ATXN7_uc011bfn.1_Missense_Mutation_p.F376L	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	521					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				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCTCTTGCAGTTTTGCACATT	0.522													C	63976414	T	C	63976414	3	2	189	1	0	0	0	0	1	0	0	0	1215	1739	60	3	1663	3	ATXN7	3	63976414	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	77825	63976414	134046016	1008	98865											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085149	64085149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccgggagatggcctcgcGttcgctggccaggtggaggg	18	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:64085149G>A	uc003dmf.2	-	8	2699	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	705	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		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)		ATGGCCTCGCGTTCGCTGGCC	0.617													A	64085149	G	A	64085149	3	1	189	1	0	0	0	0	1	0	0	0	12487	1145	40	1	425	1	PRICKLE2	3	64085149	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	108735	64085149	133937281	1009	98866											
ADAMTS9	56999	broad.mit.edu	37	chr3	64547309	64547309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaccgtgggccttggcagTcgcgttccgactccggtctg	14	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:64547309T>C	uc003dmg.2	-	30	4675	c.4643A>G	c.(4642-4644)GAC>GGC	p.D1548G	ADAMTS9_uc011bfo.1_Missense_Mutation_p.D1520G|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D1377G|ADAMTS9_uc011bfp.1_Missense_Mutation_p.D459G|uc003dmi.1_5'Flank	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1548	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		GCCTTGGCAGTCGCGTTCCGA	0.572													C	64547309	T	C	64547309	3	2	189	1	0	0	0	0	1	0	0	0	273	1667	58	3	1204	3	ADAMTS9	3	64547309	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	462160	64547309	133475121	1010	98867											
ADAMTS9	56999	broad.mit.edu	37	chr3	64582593	64582593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattctctccacacagtcGtttgcggtgtatccattttc	6	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:64582593G>A	uc003dmg.2	-	27	4124	c.4092C>T	c.(4090-4092)AAC>AAT	p.N1364N	ADAMTS9_uc011bfo.1_Silent_p.N1336N|ADAMTS9_uc003dmh.1_Silent_p.N1193N|ADAMTS9_uc011bfp.1_Silent_p.N275N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1364	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		CCACACAGTCGTTTGCGGTGT	0.498													A	64582593	G	A	64582593	2	1	189	1	0	0	0	0	0	0	0	1	273	1136	40	1		1	ADAMTS9	3	64582593	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	35284	64582593	133439837	1011	98868											
ADAMTS9	56999	broad.mit.edu	37	chr3	64619438	64619438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgttaaaatgcttcccGtcaaagtgagcacactgttc	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:64619438G>A	uc003dmg.2	-	13	2006	c.1974C>T	c.(1972-1974)GAC>GAT	p.D658D	ADAMTS9_uc011bfo.1_Silent_p.D630D|ADAMTS9_uc003dmh.1_Silent_p.D487D|ADAMTS9_uc003dmk.1_Silent_p.D658D	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	658	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		AATGCTTCCCGTCAAAGTGAG	0.478													A	64619438	G	A	64619438	2	1	189	1	0	0	0	0	0	0	0	1	273	1136	40	1		1	ADAMTS9	3	64619438	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	36845	64619438	133402992	1012	98869											
ADAMTS9	56999	broad.mit.edu	37	chr3	64636769	64636769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaagttcagtgttggagCcatgacatgctggggactct	14	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:64636769C>T	uc003dmg.2	-	9	1419	c.1387G>A	c.(1387-1389)GCT>ACT	p.A463T	ADAMTS9_uc011bfo.1_Missense_Mutation_p.A435T|ADAMTS9_uc003dmh.1_Missense_Mutation_p.A292T|ADAMTS9_uc003dmk.1_Missense_Mutation_p.A463T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	463	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		AGTGTTGGAGCCATGACATGC	0.393													T	64636769	C	T	64636769	3	4	189	1	0	0	0	0	1	0	0	0	273	739	26	2	4544	2	ADAMTS9	3	64636769	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	17331	64636769	133385661	1013	98870											
LRIG1	26018	broad.mit.edu	37	chr3	66463397	66463397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgttgagcccctggaagGtgaggccctctatcagccga	13	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:66463397G>T	uc003dmx.2	-	6	703	c.689C>A	c.(688-690)ACC>AAC	p.T230N	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.T230N	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	230	Extracellular (Potential).|LRR 7.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCCCTGGAAGGTGAGGCCCTC	0.532													T	66463397	G	T	66463397	3	4	189	1	0	0	0	0	1	0	0	0	8944	1261	44	5	2648	5	LRIG1	3	66463397	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1826628	66463397	131559033	1014	98871											
FAM19A4	151647	broad.mit.edu	37	chr3	68929977	68929977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcgacagcaacactgActtagcacagactctcatcc	7	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:68929977A>G	uc003dnh.1	-	3	477	c.34T>C	c.(34-36)TCA>CCA	p.S12P	FAM19A4_uc003dni.1_Missense_Mutation_p.S12P	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	12						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AGCAACACTGACTTAGCACAG	0.562													G	68929977	A	G	68929977	3	3	189	1	0	0	0	0	1	0	0	0	5534	275	10	3	404	3	FAM19A4	3	68929977	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2466580	68929977	129092453	1015	98872											
FOXP1	27086	broad.mit.edu	37	chr3	71096154	71096154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattgtcagaaggccttgGcgctgcaaagacaggaggtg	15	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:71096154G>A	uc003dol.2	-	6	926	c.603C>T	c.(601-603)CGC>CGT	p.R201R	FOXP1_uc003dom.2_Silent_p.R125R|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.R201R|FOXP1_uc003dop.2_Silent_p.R201R|FOXP1_uc003doq.1_Silent_p.R200R|FOXP1_uc003doi.2_Silent_p.R101R|FOXP1_uc003doj.2_Silent_p.R101R|FOXP1_uc003dok.2_Silent_p.R14R	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	201	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGGCCTTGGCGCTGCAAAG	0.527			T	PAX5	ALL								A	71096154	G	A	71096154	2	1	189	1	0	0	0	0	0	0	0	1	6026	1190	42	2		2	FOXP1	3	71096154	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2166177	71096154	126926276	1016	98873											
FOXP1	27086	broad.mit.edu	37	chr3	71247404	71247404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgccccgatgtccacGgccggcgtctctccgttgga	12	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:71247404G>A	uc003dol.2	-	2	452	c.129C>T	c.(127-129)GCC>GCT	p.A43A	FOXP1_uc003dom.2_Silent_p.A43A|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.A43A|FOXP1_uc003dop.2_Silent_p.A43A|FOXP1_uc003doq.1_Silent_p.A43A|FOXP1_uc003dos.2_Silent_p.A43A	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	43					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGATGTCCACGGCCGGCGTCT	0.627			T	PAX5	ALL								A	71247404	G	A	71247404	2	1	189	1	0	0	0	0	0	0	0	1	6026	1103	39	1		1	FOXP1	3	71247404	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	151250	71247404	126775026	1017	98874											
EIF4E3	317649	broad.mit.edu	37	chr3	71739244	71739244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttcacccactaaagagGcatttacattccagacttgg	7	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:71739244G>A	uc003dov.3	-	6	553	c.545C>T	c.(544-546)GCC>GTC	p.A182V	EIF4E3_uc011bgc.1_Missense_Mutation_p.A76V|EIF4E3_uc003dox.2_Missense_Mutation_p.A76V|EIF4E3_uc011bgd.1_Missense_Mutation_p.A76V|EIF4E3_uc010hoc.2_Missense_Mutation_p.A76V	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E	182					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		CACTAAAGAGGCATTTACATT	0.393													A	71739244	G	A	71739244	3	1	189	1	0	0	0	0	1	0	0	0	5031	1203	42	2	137	2	EIF4E3	3	71739244	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	491840	71739244	126283186	1018	98875											
EIF4E3	317649	broad.mit.edu	37	chr3	71748797	71748797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcctctcattaaatgAtaactacatctcaaaggcag	4	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:71748797A>G	uc003dov.3	-	3	320	c.312T>C	c.(310-312)TAT>TAC	p.Y104Y	EIF4E3_uc011bgc.1_5'UTR|EIF4E3_uc003dox.2_5'UTR|EIF4E3_uc011bgd.1_5'UTR|EIF4E3_uc010hoc.2_5'UTR	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E	104					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TCATTAAATGATAACTACATC	0.358													G	71748797	A	G	71748797	2	3	189	1	0	0	0	0	0	0	0	1	5031	340	12	3		3	EIF4E3	3	71748797	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9553	71748797	126273633	1019	98876											
PROK2	60675	broad.mit.edu	37	chr3	71821968	71821968	+	Frame_Shift_Del	DEL	A	A	-													gtgtgatgcatcctccgcccAaaaaatggaacctaaataaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:71821967_71821967CA>C	uc003dpa.4	-	3	452	c.298_298TG>G	c.(298-300)gggfs	p.G100fs	PROK2_uc003doz.4_Frame_Shift_Del_p.G79fs	NM_001126128	NP_001119600	Q9HC23	PROK2_HUMAN	Homo sapiens prokineticin 2 (PROK2), transcript variant 1, mRNA.	100					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)		ATCCTCCGCCCAAAAAATGGA	0.393													-	71821968	A	-	71821968	7	5	189	1	0	1	0	1	0	0	0	0	12551	127	5	0	96	0	PROK2	3	71821968	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	73171	71821968	126200462	1020	98877											
PDZRN3	23024	broad.mit.edu	37	chr3	73433573	73433573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatccaggactcgcggTactgctccttgagctgctgc	12	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:73433573T>C	uc003dpl.1	-	10	2240	c.2144A>G	c.(2143-2145)TAC>TGC	p.Y715C	PDZRN3_uc011bgh.1_Missense_Mutation_p.Y372C|PDZRN3_uc010hoe.1_Missense_Mutation_p.Y413C|PDZRN3_uc011bgf.1_Missense_Mutation_p.Y432C|PDZRN3_uc011bgg.1_Missense_Mutation_p.Y435C	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	715							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)		GGACTCGCGGTACTGCTCCTT	0.607													C	73433573	T	C	73433573	3	2	189	1	0	0	0	0	1	0	0	0	11709	1638	57	3	1060	3	PDZRN3	3	73433573	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1611605	73433573	124588857	1021	98878											
ROBO2	6092	broad.mit.edu	37	chr3	77617497	77617497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcacaaggagtggaccacaGgcaagtgcagaaagagctag	14	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:77617497G>T	uc003dpy.3	+	13	2526	c.1883G>T	c.(1882-1884)AGG>ATG	p.R628M	ROBO2_uc003dpz.2_Missense_Mutation_p.R632M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R632M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	628	Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		GTGGACCACAGGCAAGTGCAG	0.418													T	77617497	G	T	77617497	3	4	189	1	0	0	0	0	1	0	0	0	13514	1000	35	5	1935	5	ROBO2	3	77617497	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4183924	77617497	120404933	1022	98879											
VGLL3	389136	broad.mit.edu	37	chr3	87017791	87017791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgttccatgaaaggctcCagcccatgctgaggtagcag	11	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:87017791C>T	uc003dqn.2	-	3	1250	c.886G>A	c.(886-888)GGA>AGA	p.G296R		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	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)		TGAAAGGCTCCAGCCCATGCT	0.478													T	87017791	C	T	87017791	3	4	189	1	0	0	0	0	1	0	0	0	17157	603	21	4	102	4	VGLL3	3	87017791	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	9400294	87017791	111004639	1023	98880											
EPHA3	2042	broad.mit.edu	37	chr3	89391170	89391170	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttgagattgatgccgtTaatggggtgtcagagctgag	14	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:89391170T>C	uc003dqy.2	+	5	1461	c.1236T>C	c.(1234-1236)GTT>GTC	p.V412V	EPHA3_uc003dqx.1_Silent_p.V412V|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	412	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		TTGATGCCGTTAATGGGGTGT	0.498										TSP Lung(6;0.00050)			C	89391170	T	C	89391170	2	2	189	1	0	0	0	0	0	0	0	1	5168	1741	61	3		3	EPHA3	3	89391170	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2373379	89391170	108631260	1024	98881											
PROS1	5627	broad.mit.edu	37	chr3	93598107	93598107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagtgcccgtggatggaCgaatattcaaggtcacattt	10	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:93598107C>T	uc003drb.3	-	13	1885	c.1544G>A	c.(1543-1545)CGT>CAT	p.R515H	PROS1_uc010hoo.2_Missense_Mutation_p.R384H|PROS1_uc003dqz.3_Missense_Mutation_p.R384H	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	515	Laminin G-like 2.		R -> P (in PROS1D).|R -> C (in PROS1D; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant).	R->K: No change in secretion of the mutant.|R->A,E: Markedly reduced secretion of the mutant.	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			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CGTGGATGGACGAATATTCAA	0.438													T	93598107	C	T	93598107	3	4	189	1	0	0	0	0	1	0	0	0	12558	536	19	1	498	1	PROS1	3	93598107	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4206937	93598107	104424323	1025	98882											
PROS1	5627	broad.mit.edu	37	chr3	93615522	93615522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaggttcaagggaaggCacactgaaacaacctggaat	11	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:93615522C>T	uc003drb.3	-	9	1204	c.863G>A	c.(862-864)TGC>TAC	p.C288Y	PROS1_uc010hoo.2_Missense_Mutation_p.C157Y|PROS1_uc003dqz.3_Missense_Mutation_p.C157Y	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	288					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			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CAAGGGAAGGCACACTGAAAC	0.358													T	93615522	C	T	93615522	3	4	189	1	0	0	0	0	1	0	0	0	12558	710	25	2	1195	2	PROS1	3	93615522	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	17415	93615522	104406908	1026	98883											
ARL13B	200894	broad.mit.edu	37	chr3	93754252	93754252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatctctggaaaaattggTcaatgagcacaagtgcctgt	9	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:93754252T>C	uc003drc.2	+	4	744	c.458T>C	c.(457-459)GTC>GCC	p.V153A	ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Missense_Mutation_p.V46A|ARL13B_uc003dre.2_Missense_Mutation_p.V138A|ARL13B_uc003drf.2_Missense_Mutation_p.V153A|ARL13B_uc003drg.2_Missense_Mutation_p.V50A	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	153							GTP binding				0						GAAAAATTGGTCAATGAGCAC	0.299													C	93754252	T	C	93754252	3	2	189	1	0	0	0	0	1	0	0	0	929	1667	58	3	472	3	ARL13B	3	93754252	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	138730	93754252	104268178	1027	98884											
EPHA6	285220	broad.mit.edu	37	chr3	97439147	97439147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagccccagaagccatcGcctacagaaaattctcctca	7	15	2	2	rs36084843		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:97439147G>A	uc010how.1	+	15	2870	c.2827G>A	c.(2827-2829)GCC>ACC	p.A943T	EPHA6_uc003drt.2_Missense_Mutation_p.A335T|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	848	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AGAAGCCATCGCCTACAGAAA	0.443													A	97439147	G	A	97439147	3	1	189	1	0	0	0	0	1	0	0	0	5171	1087	38	1	3002	1	EPHA6	3	97439147	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3684895	97439147	100583283	1028	98885											
GABRR3	200959	broad.mit.edu	37	chr3	97711803	97711803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggagctgacccacaggtAcacatccacagccttgaggt	12	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:97711803A>G	uc011bgr.1	-	8	997	c.997T>C	c.(997-999)TAC>CAC	p.Y333H		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	333	Helical; (Potential).				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				0						ACCCACAGGTACACATCCACA	0.517													G	97711803	A	G	97711803	3	3	189	1	0	0	0	0	1	0	0	0	6178	391	14	3	413	3	GABRR3	3	97711803	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	272656	97711803	100310627	1029	98886											
OR5H15	403274	broad.mit.edu	37	chr3	97888382	97888382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctctattctacactgTcatcattcctttgttaaatc	5	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:97888382T>C	uc011bgu.1	+	1	839	c.839T>C	c.(838-840)GTC>GCC	p.V280A		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTCTACACTGTCATCATTCCT	0.373													C	97888382	T	C	97888382	3	2	189	1	0	0	0	0	1	0	0	0	11161	1667	58	3	841	3	OR5H15	3	97888382	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	176579	97888382	100134048	1030	98887											
GPR15	2838	broad.mit.edu	37	chr3	98251737	98251737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttggtatggaggtgaGtggacccttggcatttgcca	14	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:98251737G>A	uc011bgy.1	+	1	860	c.860G>A	c.(859-861)AGT>AAT	p.S287N		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	287	Helical; Name=7; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ATGGAGGTGAGTGGACCCTTG	0.502													A	98251737	G	A	98251737	3	1	189	1	0	0	0	0	1	0	0	0	6655	1029	36	4	862	4	GPR15	3	98251737	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	363355	98251737	99770693	1031	98888											
SENP7	57337	broad.mit.edu	37	chr3	101060559	101060559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtaatagaaagggagTagcaaccgctactttgcttc	10	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:101060559T>C	uc003dut.2	-	15	2282	c.2171A>G	c.(2170-2172)TAC>TGC	p.Y724C	SENP7_uc003duu.2_Missense_Mutation_p.Y659C|SENP7_uc003duv.2_Missense_Mutation_p.Y691C|SENP7_uc003duw.2_Missense_Mutation_p.Y658C|SENP7_uc003dux.2_Missense_Mutation_p.Y560C	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	724					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						AGAAAGGGAGTAGCAACCGCT	0.448													C	101060559	T	C	101060559	3	2	189	1	0	0	0	0	1	0	0	0	14051	1638	57	3	1021	3	SENP7	3	101060559	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2808822	101060559	96961871	1032	98889											
SENP7	57337	broad.mit.edu	37	chr3	101083732	101083732	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgctgattcagaagtActctcattttcattagttgt	6	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:101083732A>G	uc003dut.2	-	10	1533	c.1422T>C	c.(1420-1422)AGT>AGC	p.S474S	SENP7_uc003duu.2_Silent_p.S409S|SENP7_uc003duv.2_Silent_p.S441S|SENP7_uc003duw.2_Silent_p.S408S|SENP7_uc003dux.2_Silent_p.S310S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	474					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ATTCAGAAGTACTCTCATTTT	0.328													G	101083732	A	G	101083732	2	3	189	1	0	0	0	0	0	0	0	1	14051	388	14	3		3	SENP7	3	101083732	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23173	101083732	96938698	1033	98890											
ZBTB11	27107	broad.mit.edu	37	chr3	101384247	101384247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatcctactgatgacaggGcagattcagcctctgaagaa	9	10	2	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:101384247G>A	uc003dve.3	-	4	1414	c.1184C>T	c.(1183-1185)GCC>GTC	p.A395V		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGATGACAGGGCAGATTCAGC	0.433													A	101384247	G	A	101384247	3	1	189	1	0	0	0	0	1	0	0	0	17521	1203	42	2	2009	2	ZBTB11	3	101384247	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	300515	101384247	96638183	1034	98891											
FAM55C	91775	broad.mit.edu	37	chr3	101525973	101525973	+	Splice_Site	DEL	A	A	-													ttcccaggagaataaaaggtAaaaaaaagaataagcttgat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353													-	101525973	A	-	101525973	8	5	189	1	0	1	0	1	0	0	1	0	5586	377	13	0		0	FAM55C	3	101525973	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	141726	101525973	96496457	1035	98892											
NFKBIZ	64332	broad.mit.edu	37	chr3	101571028	101571029	+	Frame_Shift_Del	DEL	AT	AT	-													cctgttgcacatccgaagtcAtaaacagaaggcttctggcc					rs145163386		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:101571027_101571028CAT>C	uc003dvp.3	+	1	503_504	c.388_389CAT>C	c.(388-390)catfs	p.H130fs	NFKBIZ_uc003dvo.3_Frame_Shift_Del_p.H30fs|NFKBIZ_uc010hpo.3_Frame_Shift_Del_p.H30fs|NFKBIZ_uc003dvq.3_Frame_Shift_Del_p.H130fs	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	130					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						CATCCGAAGTCATAAACAGAAG	0.485													-	101571029	AT	-	101571028	7	5	189	1	0	1	0	1	0	0	0	0	10383	217	8	0	395	0	NFKBIZ	3	101571028	Frame_Shift_Del	DEL	AT	TCGA-CG-5721-01A-11D-1600-08	45055	101571028	96451402	1036	98893											
ALCAM	214	broad.mit.edu	37	chr3	105271332	105271332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaacagagaaaaggtgAatgaccaggcaaaactaatt	9	5	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:105271332A>G	uc003dvx.2	+	14	2107	c.1567A>G	c.(1567-1569)AAT>GAT	p.N523D	ALCAM_uc003dvw.1_Missense_Mutation_p.N523D|ALCAM_uc003dvy.2_Missense_Mutation_p.N510D|ALCAM_uc010hpp.2_Missense_Mutation_p.N245D|ALCAM_uc003dvz.2_Missense_Mutation_p.N157D	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	523	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						AGAAAAGGTGAATGACCAGGC	0.413													G	105271332	A	G	105271332	3	3	189	1	0	0	0	0	1	0	0	0	487	246	9	3	1621	3	ALCAM	3	105271332	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3700304	105271332	92751098	1037	98894											
CBLB	868	broad.mit.edu	37	chr3	105400628	105400628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagatggaccatgtgTtccattcagcatacagtgac	9	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:105400628T>C	uc003dwc.2	-	15	2558	c.2236A>G	c.(2236-2238)ACA>GCA	p.T746A	CBLB_uc003dwa.2_Missense_Mutation_p.T5A|CBLB_uc011bhi.1_Missense_Mutation_p.T768A|CBLB_uc003dwd.1_Missense_Mutation_p.T746A|CBLB_uc003dwe.1_Missense_Mutation_p.T746A	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	746	Pro-rich.				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			lung(4)|ovary(3)|breast(1)|skin(1)	9						GGACCATGTGTTCCATTCAGC	0.333			Mis S		AML								C	105400628	T	C	105400628	3	2	189	1	0	0	0	0	1	0	0	0	2701	1725	60	3	732	3	CBLB	3	105400628	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	129296	105400628	92621802	1038	98895											
IFT57	55081	broad.mit.edu	37	chr3	107938290	107938290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggatagtatgttagatatTgttgcattagggtcatcata	10	4	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:107938290T>C	uc003dwx.3	-	2	590	c.342A>G	c.(340-342)ACA>ACG	p.T114T		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	114					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGTTAGATATTGTTGCATTAG	0.373													C	107938290	T	C	107938290	2	2	189	1	0	0	0	0	0	0	0	1	7562	1799	63	3		3	IFT57	3	107938290	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2537662	107938290	90084140	1039	98896											
MYH15	22989	broad.mit.edu	37	chr3	108147575	108147575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtttcctgtttcttagTtatttccagctgagccaaac	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:108147575T>C	uc003dxa.1	-	28	3583	c.3526A>G	c.(3526-3528)ACT>GCT	p.T1176A		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1176	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TGTTTCTTAGTTATTTCCAGC	0.493													C	108147575	T	C	108147575	3	2	189	1	0	0	0	0	1	0	0	0	10034	1725	60	3	2374	3	MYH15	3	108147575	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	209285	108147575	89874855	1040	98897											
MYH15	22989	broad.mit.edu	37	chr3	108224573	108224573	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaaaatttctttacctcTccatctgctgtctcaacaat	2	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:108224573T>C	uc003dxa.1	-	3	309	c.252A>G	c.(250-252)GGA>GGG	p.G84G		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	84	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCTTTACCTCTCCATCTGCTG	0.323													C	108224573	T	C	108224573	2	2	189	1	0	0	0	0	0	0	0	1	10034	1538	54	3		3	MYH15	3	108224573	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	76998	108224573	89797857	1041	98898											
KIAA1524	57650	broad.mit.edu	37	chr3	108276263	108276263	+	Splice_Site	DEL	T	T	-													tactagcaagtgtccgtgccTcaaaaaaaaaaagaagatag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:108276262_108276262CT>C	uc003dxb.4	-	17	2283	c.2014_splice	c.e17-1	p.A672_splice		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	672						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						GTGTCCGTGCCTCAAAAAAAA	0.363													-	108276263	T	-	108276263	8	5	189	1	0	1	0	1	0	0	1	0	8239	1565	54	0	725	0	KIAA1524	3	108276263	Splice_Site	DEL	T	TCGA-CG-5721-01A-11D-1600-08	51690	108276263	89746167	1042	98899											
KIAA1524	57650	broad.mit.edu	37	chr3	108282076	108282076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagcaaaagccaaaggagTaatcaaacgtgggtcctaaa	9	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:108282076T>C	uc003dxb.3	-	13	1800	c.1531A>G	c.(1531-1533)ACT>GCT	p.T511A	KIAA1524_uc010hpv.1_Missense_Mutation_p.T78A	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	511						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						GCCAAAGGAGTAATCAAACGT	0.373													C	108282076	T	C	108282076	3	2	189	1	0	0	0	0	1	0	0	0	8239	1638	57	3	1222	3	KIAA1524	3	108282076	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5813	108282076	89740354	1043	98900											
MORC1	27136	broad.mit.edu	37	chr3	108682336	108682336	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagagatttttcttttAttttcacattgccccagaga	5	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:108682336A>T	uc003dxl.2	-	27	2811	c.2724T>A	c.(2722-2724)AAT>AAA	p.N908K	MORC1_uc011bhn.1_Missense_Mutation_p.N887K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	908	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTTTTCTTTTATTTTCACATT	0.308													T	108682336	A	T	108682336	3	4	189	1	0	0	0	0	1	0	0	0	9701	446	16	5	238	5	MORC1	3	108682336	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	400260	108682336	89340094	1044	98901											
SLC9A10	285335	broad.mit.edu	37	chr3	111927065	111927065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataaagtgtaagaaaacagTagttagtgtgttttaattcg	9	2	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:111927065T>C	uc003dyu.2	-	16	2168	c.1946A>G	c.(1945-1947)TAC>TGC	p.Y649C	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.Y601C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	649	Helical; (Potential).|Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						AAGAAAACAGTAGTTAGTGTG	0.323													C	111927065	T	C	111927065	3	2	189	1	0	0	0	0	1	0	0	0	14710	1638	57	3	1643	3	SLC9A10	3	111927065	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3244729	111927065	86095365	1045	98902											
SLC9A10	285335	broad.mit.edu	37	chr3	111997623	111997623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtatccatgtcaaatgcagTagtaaagaaaactactggtg	9	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:111997623T>C	uc003dyu.2	-	4	493	c.271A>G	c.(271-273)ACT>GCT	p.T91A	SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.T91A	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	91	Helical; (Potential).				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						TCAAATGCAGTAGTAAAGAAA	0.313													C	111997623	T	C	111997623	3	2	189	1	0	0	0	0	1	0	0	0	14710	1638	57	3	3366	3	SLC9A10	3	111997623	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	70558	111997623	86024807	1046	98903											
CCDC80	151887	broad.mit.edu	37	chr3	112324479	112324479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catggaccacattggggaagGataccaggatttgacatttc	11	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:112324479G>T	uc003dzf.2	-	8	2856	c.2638C>A	c.(2638-2640)CCT>ACT	p.P880T	CCDC80_uc011bhv.1_Missense_Mutation_p.P853T|CCDC80_uc003dzg.2_Missense_Mutation_p.P880T	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	880										ovary(2)	2						ATTGGGGAAGGATACCAGGAT	0.463													T	112324479	G	T	112324479	3	4	189	1	0	0	0	0	1	0	0	0	2854	1174	41	5	218	5	CCDC80	3	112324479	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	326856	112324479	85697951	1047	98904											
CCDC80	151887	broad.mit.edu	37	chr3	112356992	112356992	+	Frame_Shift_Del	DEL	T	T	-													tcctgttctgttttacctccTtttttcttcttgctcttctc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:112356991_112356991CT>C	uc003dzf.3	-	1	1980	c.1762_1762AG>G	c.(1762-1764)ggafs	p.G588fs	CCDC80_uc011bhv.2_Frame_Shift_Del_p.G588fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.G588fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.G588fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	588	Lys-rich.									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						GTTTTACCTCCTtttttcttc	0.443													-	112356992	T	-	112356992	7	5	189	1	0	1	0	1	0	0	0	0	2854	1606	56	0	1119	0	CCDC80	3	112356992	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	32513	112356992	85665438	1048	98905											
WDR52	55779	broad.mit.edu	37	chr3	113115503	113115503	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcgtgagcccttttggAtcataaagttcaagaattcg	8	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:113115503A>T	uc003eae.1	-	14	1687	c.1641T>A	c.(1639-1641)GAT>GAA	p.D547E		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	547	WD 6.									central_nervous_system(1)	1						GCCCTTTTGGATCATAAAGTT	0.388													T	113115503	A	T	113115503	3	4	189	1	0	0	0	0	1	0	0	0	17301	330	12	5	4026	5	WDR52	3	113115503	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	758511	113115503	84906927	1049	98906											
CCDC52	152185	broad.mit.edu	37	chr3	113184570	113184570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaatgagctctcgatgaTcacctaatacttgttccagt	6	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:113184570T>C	uc003eag.3	-	11	1508	c.1217A>G	c.(1216-1218)GAT>GGT	p.D406G	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.D302G	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	406	Potential.				cell division|mitosis	centriole|spindle	protein binding				0						CTCTCGATGATCACCTAATAC	0.393													C	113184570	T	C	113184570	3	2	189	1	0	0	0	0	1	0	0	0	2822	1435	50	3	1382	3	CCDC52	3	113184570	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	69067	113184570	84837860	1050	98907											
SIDT1	54847	broad.mit.edu	37	chr3	113321913	113321913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgggccaccgggccaGtcagacacagacagctccgt	14	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:113321913G>A	uc003eak.2	+	12	1830	c.1179G>A	c.(1177-1179)CAG>CAA	p.Q393Q	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.Q393Q|SIDT1_uc011big.1_Silent_p.Q146Q|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	393	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CACCGGGCCAGTCAGACACAG	0.552													A	113321913	G	A	113321913	2	1	189	1	0	0	0	0	0	0	0	1	14302	1020	36	4		4	SIDT1	3	113321913	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	137343	113321913	84700517	1051	98908											
SIDT1	54847	broad.mit.edu	37	chr3	113329934	113329934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccagacatcaatgccagCgcctactctgcctatgcctc	6	18	2	1	rs145430934		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:113329934C>T	uc003eak.2	+	18	2451	c.1800C>T	c.(1798-1800)AGC>AGT	p.S600S	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.S600S|SIDT1_uc011big.1_Silent_p.S353S|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Silent_p.S53S	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	600	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TCAATGCCAGCGCCTACTCTG	0.577													T	113329934	C	T	113329934	2	4	189	1	0	0	0	0	0	0	0	1	14302	767	27	1		1	SIDT1	3	113329934	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8021	113329934	84692496	1052	98909											
DRD3	1814	broad.mit.edu	37	chr3	113847607	113847607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctttccggaactcgatatTgaaggtggtatagatcacag	12	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:113847607T>C	uc003ebd.2	-	8	1582	c.1159A>G	c.(1159-1161)AAT>GAT	p.N387D	DRD3_uc010hqn.1_Missense_Mutation_p.N387D|DRD3_uc003ebb.1_Missense_Mutation_p.N354D|DRD3_uc003ebc.1_Missense_Mutation_p.N387D	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	387	Helical; Name=7.				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			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AACTCGATATTGAAGGTGGTA	0.542													C	113847607	T	C	113847607	3	2	189	1	0	0	0	0	1	0	0	0	4758	1812	63	3	47	3	DRD3	3	113847607	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	517673	113847607	84174823	1053	98910											
DRD3	1814	broad.mit.edu	37	chr3	113890604	113890604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggcatcaccaaggtgGccaccagcaagtctgccaca	10	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:113890604G>A	uc003ebd.2	-	3	659	c.236C>T	c.(235-237)GCC>GTC	p.A79V	DRD3_uc010hqn.1_Missense_Mutation_p.A79V|DRD3_uc003ebb.1_Missense_Mutation_p.A79V|DRD3_uc003ebc.1_Missense_Mutation_p.A79V	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	79	Helical; Name=2.				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			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CACCAAGGTGGCCACCAGCAA	0.557													A	113890604	G	A	113890604	3	1	189	1	0	0	0	0	1	0	0	0	4758	1203	42	2	990	2	DRD3	3	113890604	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	42997	113890604	84131826	1054	98911											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					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)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	189	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	167399	114058003	83964427	1055	98912											
ZBTB20	26137	broad.mit.edu	37	chr3	114069373	114069373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggcttggggccactgcCcgcgggctgggtagtgaaga	18	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:114069373C>T	uc003ebi.2	-	4	1732	c.1552G>A	c.(1552-1554)GGC>AGC	p.G518S	ZBTB20_uc003ebj.2_Missense_Mutation_p.G445S|ZBTB20_uc010hqp.2_Missense_Mutation_p.G445S|ZBTB20_uc003ebk.2_Missense_Mutation_p.G445S|ZBTB20_uc003ebl.2_Missense_Mutation_p.G445S|ZBTB20_uc003ebm.2_Missense_Mutation_p.G445S|ZBTB20_uc003ebn.2_Missense_Mutation_p.G445S|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGGCCACTGCCCGCGGGCTGG	0.622													T	114069373	C	T	114069373	3	4	189	1	0	0	0	0	1	0	0	0	17526	623	22	4	681	4	ZBTB20	3	114069373	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	11370	114069373	83953057	1056	98913											
ZBTB20	26137	broad.mit.edu	37	chr3	114069493	114069493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagggtttctgtctggcGtaagtagagctgggtacttg	17	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:114069493G>A	uc003ebi.2	-	4	1612	c.1432C>T	c.(1432-1434)CGC>TGC	p.R478C	ZBTB20_uc003ebj.2_Missense_Mutation_p.R405C|ZBTB20_uc010hqp.2_Missense_Mutation_p.R405C|ZBTB20_uc003ebk.2_Missense_Mutation_p.R405C|ZBTB20_uc003ebl.2_Missense_Mutation_p.R405C|ZBTB20_uc003ebm.2_Missense_Mutation_p.R405C|ZBTB20_uc003ebn.2_Missense_Mutation_p.R405C|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCTGTCTGGCGTAAGTAGAGC	0.562													A	114069493	G	A	114069493	3	1	189	1	0	0	0	0	1	0	0	0	17526	1145	40	1	801	1	ZBTB20	3	114069493	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	120	114069493	83952937	1057	98914											
B4GALT4	8702	broad.mit.edu	37	chr3	118945806	118945806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacattcctgagggcgataCcggcctctggacactttggg	12	11	1	1	rs143371634	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:118945806C>T	uc003ecg.2	-	4	977	c.336G>A	c.(334-336)CGG>CGA	p.R112R	B4GALT4_uc003ece.1_Silent_p.R112R|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Silent_p.R112R|B4GALT4_uc003eci.2_Silent_p.R112R|B4GALT4_uc011biy.1_RNA	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	112	Lumenal (Potential).				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				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GAGGGCGATACCGGCCTCTGG	0.502													T	118945806	C	T	118945806	2	4	189	1	0	0	0	0	0	0	0	1	1273	494	18	4		4	B4GALT4	3	118945806	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4876313	118945806	79076624	1058	98915											
ARHGAP31	57514	broad.mit.edu	37	chr3	119120876	119120876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagggcgctcaggcccGgcccccaccggaacagctga	12	18	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:119120876G>A	uc003ecj.3	+	10	1809	c.1277G>A	c.(1276-1278)CGG>CAG	p.R426Q		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	426					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GCTCAGGCCCGGCCCCCACCG	0.617													A	119120876	G	A	119120876	3	1	189	1	0	0	0	0	1	0	0	0	880	1116	39	1	1315	1	ARHGAP31	3	119120876	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	175070	119120876	78901554	1059	98916											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121036	119121036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagccctcgccgcgtaaCcagcgcaaggcgctgaacat	12	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:119121036C>T	uc003ecj.3	+	10	1969	c.1437C>T	c.(1435-1437)AAC>AAT	p.N479N		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	479					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CGCCGCGTAACCAGCGCAAGG	0.597													T	119121036	C	T	119121036	2	4	189	1	0	0	0	0	0	0	0	1	880	506	18	4		4	ARHGAP31	3	119121036	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	160	119121036	78901394	1060	98917											
C3orf15	89876	broad.mit.edu	37	chr3	119452224	119452224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccataggattagtggaactTgagtcatgtctcccagattt	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:119452224T>C	uc003ede.3	+	10	1292	c.1215T>C	c.(1213-1215)CTT>CTC	p.L405L	C3orf15_uc010hqy.1_Silent_p.L405L|C3orf15_uc010hqz.2_Silent_p.L343L|C3orf15_uc011bjd.1_Silent_p.L279L|C3orf15_uc011bje.1_Silent_p.L385L|C3orf15_uc010hra.1_Silent_p.L166L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	Error:Variant_position_missing_in_Q7Z4T9_after_alignment						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		TAGTGGAACTTGAGTCATGTC	0.398													C	119452224	T	C	119452224	2	2	189	1	0	0	0	0	0	0	0	1	2209	1799	63	3		3	C3orf15	3	119452224	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	331188	119452224	78570206	1061	98918											
HGD	3081	broad.mit.edu	37	chr3	120352071	120352072	+	Frame_Shift_Ins	INS	-	-	G													cagtcagcatcaggtccatgINSgggggtcattgtgctgtgta					rs120074172		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:120352070_120352071T>TG	uc003edw.3	-	12	1571_1572	c.1111_1112A>CA	c.(1111-1113)catfs	p.H371fs	HGD_uc003edv.3_Frame_Shift_Ins_p.H230fs	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	371			H -> R (in AKU).		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)		ATCAGGTCCATGGGGGGTCATT	0.545													G	120352072	-	G	120352071	7	5	189	1	0	1	1	0	0	0	0	0	7084	1348	47	0	234	0	HGD	3	120352071	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	899847	120352071	77670359	1062	98919											
POLQ	10721	broad.mit.edu	37	chr3	121207128	121207128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatagattcatcattggaAcaagtcaactgctggtgggt	10	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:121207128A>G	uc003eee.3	-	16	4779	c.4650T>C	c.(4648-4650)TGT>TGC	p.C1550C	POLQ_uc003eed.2_Silent_p.C722C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1550					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CATCATTGGAACAAGTCAACT	0.328								DNA_polymerases_(catalytic_subunits)					G	121207128	A	G	121207128	2	3	189	1	0	0	0	0	0	0	0	1	12208	41	2	3		3	POLQ	3	121207128	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	855057	121207128	76815302	1063	98920											
POLQ	10721	broad.mit.edu	37	chr3	121263572	121263572	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtttacataaatttggatAcctgaataaactaaattctt	4	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:121263572A>G	uc003eee.3	-	2	472	c.343_splice	c.e2+1	p.A115_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta						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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAATTTGGATACCTGAATAAA	0.333								DNA_polymerases_(catalytic_subunits)					G	121263572	A	G	121263572	5	3	189	1	0	0	0	0	0	0	1	0	12208	405	14	3	7543	3	POLQ	3	121263572	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	56444	121263572	76758858	1064	98921											
GOLGB1	2804	broad.mit.edu	37	chr3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggagttcattgaaaaggCggtttcagaaagaagagcat	13	4	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:121409831C>T	uc003eei.3	-	14	8491	c.8365G>A	c.(8365-8367)GCC>ACC	p.A2789T	GOLGB1_uc010hrc.2_Missense_Mutation_p.A2794T|GOLGB1_uc003eej.3_Missense_Mutation_p.A2755T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2789	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.A2789T(1)		ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423													T	121409831	C	T	121409831	3	4	189	1	0	0	0	0	1	0	0	0	6565	768	27	1	1450	1	GOLGB1	3	121409831	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	146259	121409831	76612599	1065	98922											
GOLGB1	2804	broad.mit.edu	37	chr3	121414358	121414358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccatttcttgctcagctTcctgcaactgcttttctgtc	5	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:121414358T>C	uc003eei.3	-	13	5123	c.4997A>G	c.(4996-4998)GAA>GGA	p.E1666G	GOLGB1_uc010hrc.2_Missense_Mutation_p.E1671G|GOLGB1_uc003eej.3_Missense_Mutation_p.E1632G|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1552G|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1630G	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1666	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTGCTCAGCTTCCTGCAACTG	0.428													C	121414358	T	C	121414358	3	2	189	1	0	0	0	0	1	0	0	0	6565	1783	62	3	4822	3	GOLGB1	3	121414358	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4527	121414358	76608072	1066	98923											
GOLGB1	2804	broad.mit.edu	37	chr3	121415161	121415161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttgcttatgagtttTtgcagttcatccagtttagg	8	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:121415161T>C	uc003eei.3	-	13	4320	c.4194A>G	c.(4192-4194)CAA>CAG	p.Q1398Q	GOLGB1_uc010hrc.2_Silent_p.Q1403Q|GOLGB1_uc003eej.3_Silent_p.Q1364Q|GOLGB1_uc011bjm.1_Silent_p.Q1284Q|GOLGB1_uc010hrd.1_Silent_p.Q1362Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1398	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTATGAGTTTTTGCAGTTCAT	0.408													C	121415161	T	C	121415161	2	2	189	1	0	0	0	0	0	0	0	1	6565	1838	64	3		3	GOLGB1	3	121415161	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	803	121415161	76607269	1067	98924											
GOLGB1	2804	broad.mit.edu	37	chr3	121417318	121417318	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcatcctgatgacactgAccaatatctggtacagcaga	7	11	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:121417318A>G	uc003eei.3	-	13	2163	c.2037T>C	c.(2035-2037)GGT>GGC	p.G679G	GOLGB1_uc010hrc.2_Silent_p.G684G|GOLGB1_uc003eej.3_Silent_p.G645G|GOLGB1_uc011bjm.1_Silent_p.G565G|GOLGB1_uc010hrd.1_Silent_p.G643G	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	679	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GATGACACTGACCAATATCTG	0.353													G	121417318	A	G	121417318	2	3	189	1	0	0	0	0	0	0	0	1	6565	262	10	3		3	GOLGB1	3	121417318	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2157	121417318	76605112	1068	98925											
ILDR1	286676	broad.mit.edu	37	chr3	121712306	121712306	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtggctcggccgccagcgTgcctcactggatgaggggac	18	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:121712306T>C	uc003ees.2	-	7	1396	c.1290A>G	c.(1288-1290)GCA>GCG	p.A430A	ILDR1_uc003eeq.2_Silent_p.A398A|ILDR1_uc003eer.2_Silent_p.A386A|ILDR1_uc010hrg.2_Silent_p.A341A	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	430	Cytoplasmic (Potential).					cytosol|integral to membrane|plasma membrane	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.156)		GCCGCCAGCGTGCCTCACTGG	0.652													C	121712306	T	C	121712306	2	2	189	1	0	0	0	0	0	0	0	1	7709	1683	59	3		3	ILDR1	3	121712306	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	294988	121712306	76310124	1069	98926											
CASR	846	broad.mit.edu	37	chr3	122003712	122003712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtcatctttggcagcGgcacggtcaccttctcactg	11	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:122003712G>A	uc003eev.3	+	7	3283	c.2911G>A	c.(2911-2913)GGC>AGC	p.G971S	CASR_uc003eew.3_Missense_Mutation_p.G981S	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	971	Cytoplasmic (Potential).				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGCAGCGGCACGGTCAC	0.582													A	122003712	G	A	122003712	3	1	189	1	0	0	0	0	1	0	0	0	2682	1116	39	1	2963	1	CASR	3	122003712	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	291406	122003712	76018718	1070	98927											
PARP15	165631	broad.mit.edu	37	chr3	122335917	122335917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgaaatgaaaatcggTgcaattacttttcaggttgc	9	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:122335917T>C	uc003efm.2	+	6	972	c.906T>C	c.(904-906)GGT>GGC	p.G302G	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Silent_p.G49G|PARP15_uc003efp.1_Silent_p.G68G|PARP15_uc011bjt.1_Silent_p.G68G	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	280	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		TGAAAATCGGTGCAATTACTT	0.403													C	122335917	T	C	122335917	2	2	189	1	0	0	0	0	0	0	0	1	11459	1683	59	3		3	PARP15	3	122335917	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	332205	122335917	75686513	1071	98928											
PARP15	165631	broad.mit.edu	37	chr3	122345823	122345823	+	Frame_Shift_Del	DEL	A	A	-													atatattctacgacagcatgAaaaaaagagacctctctgca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:122345822_122345822GA>G	uc003efm.2	+	8	1446	c.1380_1380GA>G	c.(1378-1380)atgfs	p.M460fs	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Frame_Shift_Del_p.M207fs|PARP15_uc003efp.1_Frame_Shift_Del_p.M226fs|PARP15_uc011bjt.1_Intron	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	438	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACGACAGCATGAAAAAAAGAG	0.373													-	122345823	A	-	122345823	7	5	189	1	0	1	0	1	0	0	0	0	11459	247	9	0	1484	0	PARP15	3	122345823	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	9906	122345823	75676607	1072	98929											
ADCY5	111	broad.mit.edu	37	chr3	123021996	123021996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccgccacgtgacacgcgTtgacctggctcgcgctgatg	12	15	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:123021996T>C	uc003egh.1	-	14	2630	c.2630A>G	c.(2629-2631)AAC>AGC	p.N877S	ADCY5_uc003egg.1_Missense_Mutation_p.N510S|ADCY5_uc003egi.1_Missense_Mutation_p.N436S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	877	Extracellular (Potential).				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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		GTGACACGCGTTGACCTGGCT	0.642													C	123021996	T	C	123021996	3	2	189	1	0	0	0	0	1	0	0	0	297	1725	60	3	1187	3	ADCY5	3	123021996	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	676173	123021996	75000434	1073	98930											
KALRN	8997	broad.mit.edu	37	chr3	124281903	124281903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacactcccgaagcagcGtggagatggactgcttcttc	10	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:124281903G>A	uc003ehg.2	+	34	5270	c.5143G>A	c.(5143-5145)GTG>ATG	p.V1715M	KALRN_uc003ehi.2_Missense_Mutation_p.V88M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1715					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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CCGAAGCAGCGTGGAGATGGA	0.637													A	124281903	G	A	124281903	3	1	189	1	0	0	0	0	1	0	0	0	7975	1145	40	1	5344	1	KALRN	3	124281903	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1259907	124281903	73740527	1074	98931											
UMPS	7372	broad.mit.edu	37	chr3	124458976	124458976	+	Frame_Shift_Del	DEL	G	G	-													agtgggcctgcctttgcatcGggggtgcctccttattgcgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:124458975_124458975CG>C	uc003ehl.4	+	3	1193	c.1087_1087CG>C	c.(1087-1089)cggfs	p.R363fs	UMPS_uc011bkb.2_Frame_Shift_Del_p.R271fs|UMPS_uc003ehn.4_Frame_Shift_Del_p.R185fs|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Frame_Shift_Del_p.R185fs|UMPS_uc011bkc.2_Frame_Shift_Del_p.R185fs|UMPS_uc011bkd.2_Intron	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	363	OMPdecase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base 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)		GCCTTTGCATCGGGGGTGCCT	0.567													-	124458976	G	-	124458976	7	5	189	1	0	1	0	1	0	0	0	0	16978	1116	39	0	1102	0	UMPS	3	124458976	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	177073	124458976	73563454	1075	98932											
ITGB5	3693	broad.mit.edu	37	chr3	124487942	124487942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcccagagtggagcagCaggcactcgacgcaatctct	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:124487942C>T	uc003eho.2	-	12	2232	c.1935G>A	c.(1933-1935)CTG>CTA	p.L645L	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	645	Extracellular (Potential).			L -> P (in Ref. 3; AAA59183).	cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AGTGGAGCAGCAGGCACTCGA	0.547													T	124487942	C	T	124487942	2	4	189	1	0	0	0	0	0	0	0	1	7898	697	25	2		2	ITGB5	3	124487942	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	28966	124487942	73534488	1076	98933											
SLC12A8	84561	broad.mit.edu	37	chr3	124826845	124826845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagagtagtccactgcaacGtatgtcagcatgaagttgat	10	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:124826845G>A	uc003ehv.3	-	10	1296	c.1185C>T	c.(1183-1185)TAC>TAT	p.Y395Y	SLC12A8_uc003ehw.3_Silent_p.Y424Y|SLC12A8_uc003eht.3_Silent_p.Y196Y|SLC12A8_uc003ehu.3_Silent_p.Y148Y|SLC12A8_uc010hry.2_Silent_p.Y148Y	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	395	Helical; (Potential).				potassium ion transport	integral to membrane	symporter activity				0						CCACTGCAACGTATGTCAGCA	0.572													A	124826845	G	A	124826845	2	1	189	1	0	0	0	0	0	0	0	1	14389	1140	40	1		1	SLC12A8	3	124826845	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	338903	124826845	73195585	1077	98934											
SLC12A8	84561	broad.mit.edu	37	chr3	124906230	124906230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagggccaccaggatgaCgaaggacaccaggaacatgc	14	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:124906230C>T	uc003ehv.3	-	4	352	c.241G>A	c.(241-243)GTC>ATC	p.V81I	SLC12A8_uc003ehw.3_Missense_Mutation_p.V110I|SLC12A8_uc010hrz.1_5'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	81	Helical; (Potential).				potassium ion transport	integral to membrane	symporter activity				0						ACCAGGATGACGAAGGACACC	0.622													T	124906230	C	T	124906230	3	4	189	1	0	0	0	0	1	0	0	0	14389	536	19	1	1947	1	SLC12A8	3	124906230	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	79385	124906230	73116200	1078	98935											
CCDC37	348807	broad.mit.edu	37	chr3	126154470	126154470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcgggcccgggcgcGcgcccaggctgagatcaaga	16	14	2	2	rs142534437	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:126154470G>A	uc003eiu.1	+	16	1796	c.1697G>A	c.(1696-1698)CGC>CAC	p.R566H	CCDC37_uc010hsg.1_Missense_Mutation_p.R567H	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	566	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GCCCGGGCGCGCGCCCAGGCT	0.602													A	126154470	G	A	126154470	3	1	189	1	0	0	0	0	1	0	0	0	2809	1087	38	1	1755	1	CCDC37	3	126154470	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1248240	126154470	71867960	1079	98936											
UROC1	131669	broad.mit.edu	37	chr3	126222903	126222903	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagccctgcctgtggcgTttctcaagggctgctttatc	11	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:126222903T>C	uc003eiz.1	-	9	869	c.837A>G	c.(835-837)AAA>AAG	p.K279K	UROC1_uc010hsi.1_Silent_p.K279K	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	279					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		GCCTGTGGCGTTTCTCAAGGG	0.572													C	126222903	T	C	126222903	2	2	189	1	0	0	0	0	0	0	0	1	17025	1722	60	3		3	UROC1	3	126222903	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	68433	126222903	71799527	1080	98937											
PLXNA1	5361	broad.mit.edu	37	chr3	126733642	126733642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgctcaccacactacCgcgccctgtcacccaagcgc	9	19	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:126733642C>T	uc003ejg.2	+	13	2780	c.2776C>T	c.(2776-2778)CGC>TGC	p.R926C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	949	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ACCACACTACCGCGCCCTGTC	0.647													T	126733642	C	T	126733642	3	4	189	1	0	0	0	0	1	0	0	0	12119	652	23	1	2895	1	PLXNA1	3	126733642	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	510739	126733642	71288788	1081	98938											
PLXNA1	5361	broad.mit.edu	37	chr3	126748346	126748346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctacaacatctccaacTcctccaccttcaccaagtcc	2	21	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:126748346T>C	uc003ejg.2	+	26	4772	c.4768T>C	c.(4768-4770)TCC>CCC	p.S1590P	PLXNA1_uc003ejh.2_Missense_Mutation_p.S258P	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1613	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CATCTCCAACTCCTCCACCTT	0.677													C	126748346	T	C	126748346	3	2	189	1	0	0	0	0	1	0	0	0	12119	1551	54	3	4939	3	PLXNA1	3	126748346	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	14704	126748346	71274084	1082	98939											
ACAD9	28976	broad.mit.edu	37	chr3	128627052	128627052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgagattctccggatgTacatcgccctgacgggtctg	11	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:128627052T>C	uc003ela.3	+	13	1505	c.1303T>C	c.(1303-1305)TAC>CAC	p.Y435H	ACAD9_uc010hsw.1_Missense_Mutation_p.Y312H|ACAD9_uc011bks.1_Missense_Mutation_p.Y312H|ACAD9_uc003elb.2_Missense_Mutation_p.Y312H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.Y87H	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	435						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						TCTCCGGATGTACATCGCCCT	0.597													C	128627052	T	C	128627052	3	2	189	1	0	0	0	0	1	0	0	0	111	1638	57	3	1353	3	ACAD9	3	128627052	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1878706	128627052	69395378	1083	98940											
IFT122	55764	broad.mit.edu	37	chr3	129202433	129202433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccttccctgtgcacCggcagaagctgcagggcttt	11	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:129202433C>T	uc003emm.2	+	15	1965	c.1759C>T	c.(1759-1761)CGG>TGG	p.R587W	IFT122_uc003eml.2_Missense_Mutation_p.R638W|IFT122_uc003emn.2_Missense_Mutation_p.R528W|IFT122_uc003emo.2_Missense_Mutation_p.R476W|IFT122_uc003emp.2_Missense_Mutation_p.R437W|IFT122_uc010htc.2_Missense_Mutation_p.R579W|IFT122_uc011bky.1_Missense_Mutation_p.R378W|IFT122_uc003emq.2_Missense_Mutation_p.R427W|IFT122_uc003emr.2_Missense_Mutation_p.R378W|IFT122_uc011bla.1_Missense_Mutation_p.R378W|IFT122_uc011bkx.1_Missense_Mutation_p.R427W|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_Missense_Mutation_p.R66W	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	587					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CCCTGTGCACCGGCAGAAGCT	0.562													T	129202433	C	T	129202433	3	4	189	1	0	0	0	0	1	0	0	0	7555	643	23	1	1974	1	IFT122	3	129202433	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	575381	129202433	68819997	1084	98941											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:129370592T>C	uc003emz.3	-	7	2195	c.1694A>G	c.(1693-1695)CAG>CGG	p.Q565R	TMCC1_uc003emy.3_Missense_Mutation_p.Q241R|TMCC1_uc011blc.1_Missense_Mutation_p.Q386R|TMCC1_uc010htg.2_Missense_Mutation_p.Q451R	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565	Potential.					integral to membrane				skin(1)	1						CTGCTGCTGCTGCAGCTCCAT	0.572													C	129370592	T	C	129370592	3	2	189	1	0	0	0	0	1	0	0	0	15989	1580	55	3	271	3	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	168159	129370592	68651838	1085	98942											
COL6A6	131873	broad.mit.edu	37	chr3	130346189	130346189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggcagtccaggttatggTagtgtcggacgcaagggagc	17	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:130346189T>C	uc010htl.2	+	25	4999	c.4968T>C	c.(4966-4968)GGT>GGC	p.G1656G	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1656	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CAGGTTATGGTAGTGTCGGAC	0.433													C	130346189	T	C	130346189	2	2	189	1	0	0	0	0	0	0	0	1	3703	1625	57	3		3	COL6A6	3	130346189	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	975597	130346189	67676241	1086	98943											
COL6A6	131873	broad.mit.edu	37	chr3	130394222	130394222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaaggatgatagaaagtgCtcccaaacaacatgattaaa	9	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:130394222C>A	uc010htl.2	+	36	6804	c.6773C>A	c.(6772-6774)GCT>GAT	p.A2258D	COL6A6_uc003eni.3_Missense_Mutation_p.A357D	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2258	Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATAGAAAGTGCTCCCAAACAA	0.373													A	130394222	C	A	130394222	3	1	189	1	0	0	0	0	1	0	0	0	3703	797	28	5	6915	5	COL6A6	3	130394222	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	48033	130394222	67628208	1087	98944											
ASTE1	28990	broad.mit.edu	37	chr3	130743233	130743233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacactggaagaagtcctgTagcttcacctgggactgttg	11	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:130743233T>C	uc003env.1	-	3	1360	c.918A>G	c.(916-918)CTA>CTG	p.L306L	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Silent_p.L306L|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	306					DNA repair		nuclease activity				0						AGAAGTCCTGTAGCTTCACCT	0.423													C	130743233	T	C	130743233	2	2	189	1	0	0	0	0	0	0	0	1	1062	1625	57	3		3	ASTE1	3	130743233	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	349011	130743233	67279197	1088	98945											
DNAJC13	23317	broad.mit.edu	37	chr3	132213065	132213065	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatgatgtcaatagatgaTgcttatgaagtgcttaatct	8	6	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:132213065T>C	uc003eor.2	+	34	3968	c.3903T>C	c.(3901-3903)GAT>GAC	p.D1301D		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1301	J.						heat shock protein binding			ovary(1)|breast(1)	2						CAATAGATGATGCTTATGAAG	0.378													C	132213065	T	C	132213065	2	2	189	1	0	0	0	0	0	0	0	1	4632	1461	51	3		3	DNAJC13	3	132213065	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1469832	132213065	65809365	1089	98946											
TMEM108	66000	broad.mit.edu	37	chr3	132948153	132948153	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataagcaggaccagatgatAccatgaagagaagtttacag	11	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:132948153A>G	uc003eph.2	+	3	272	c.-2A>G	c.(-4-0)ATACC>ATGCC		TMEM108_uc003epi.2_Translation_Start_Site|TMEM108_uc003epj.1_Translation_Start_Site|TMEM108_uc003epk.2_Translation_Start_Site	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor							integral to membrane				ovary(2)|skin(2)	4						ACCAGATGATACCATGAAGAG	0.343													G	132948153	A	G	132948153	1	3	189	1	0	0	0	0	0	0	0	0	16021	406	14	3		3	TMEM108	3	132948153	Translation_Start_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	735088	132948153	65074277	1090	98947											
TMEM108	66000	broad.mit.edu	37	chr3	133098772	133098772	+	Frame_Shift_Del	DEL	C	C	-													tgacccccaatcccgatggaCccccctcacaggctgcagct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:133098771_133098771AC>A	uc003epi.3	+	3	486	c.216_216AC>A	c.(214-216)ggafs	p.G72fs	TMEM108_uc003eph.3_Frame_Shift_Del_p.G72fs|TMEM108_uc003epj.1_Frame_Shift_Del_p.G72fs|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	72	Pro-rich.					integral to membrane		p.D71Y(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCCCGATGGACCCCCCTCAC	0.627													-	133098772	C	-	133098772	7	5	189	1	0	1	0	1	0	0	0	0	16021	507	18	0	223	0	TMEM108	3	133098772	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	150619	133098772	64923658	1091	98948											
BFSP2	8419	broad.mit.edu	37	chr3	133167397	133167397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaactctctgtataaagtcAttgatgaggctaatttgact	7	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:133167397A>G	uc003epn.1	+	3	775	c.637A>G	c.(637-639)ATT>GTT	p.I213V	uc003epo.2_Intron	NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	213	Rod.|Potential.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						GTATAAAGTCATTGATGAGGC	0.378													G	133167397	A	G	133167397	3	3	189	1	0	0	0	0	1	0	0	0	1416	217	8	3	647	3	BFSP2	3	133167397	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	68625	133167397	64855033	1092	98949											
TOPBP1	11073	broad.mit.edu	37	chr3	133356834	133356834	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctactgctggggaggctgcGacctgtctggcatgttgtga	15	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:133356834G>A	uc003eps.2	-	14	2538	c.2406C>T	c.(2404-2406)GTC>GTT	p.V802V		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	802					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						GGGAGGCTGCGACCTGTCTGG	0.493								Other_conserved_DNA_damage_response_genes					A	133356834	G	A	133356834	2	1	189	1	0	0	0	0	0	0	0	1	16366	1045	37	1		1	TOPBP1	3	133356834	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	189437	133356834	64665596	1093	98950											
TOPBP1	11073	broad.mit.edu	37	chr3	133358933	133358933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcatatttagagccAccacgttctttcagtataag	7	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:133358933A>G	uc003eps.2	-	13	2235	c.2103T>C	c.(2101-2103)GGT>GGC	p.G701G		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	701	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATTTAGAGCCACCACGTTCTT	0.408								Other_conserved_DNA_damage_response_genes					G	133358933	A	G	133358933	2	3	189	1	0	0	0	0	0	0	0	1	16366	146	6	3		3	TOPBP1	3	133358933	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2099	133358933	64663497	1094	98951											
TF	7018	broad.mit.edu	37	chr3	133467417	133467417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctaccttgattgcatcAgggccattgcggtaagtcgc	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:133467417A>G	uc003epu.1	+	7	1933	c.205A>G	c.(205-207)AGG>GGG	p.R69G	TF_uc011bls.1_Missense_Mutation_p.R69G|TF_uc011blt.1_Intron|TF_uc003epw.1_Intron|TF_uc010htv.1_RNA|TF_uc003epv.1_Missense_Mutation_p.R69G	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	69	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGATTGCATCAGGGCCATTGC	0.473													G	133467417	A	G	133467417	3	3	189	1	0	0	0	0	1	0	0	0	15782	179	7	3	211	3	TF	3	133467417	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	108484	133467417	64555013	1095	98952											
MSL2	55167	broad.mit.edu	37	chr3	135870304	135870304	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttggcctcggcatgtaagAacacttggattttgagtagc	12	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:135870304A>G	uc003eqx.1	-	2	2152	c.1419T>C	c.(1417-1419)GTT>GTC	p.V473V	MSL2_uc011bmb.1_Silent_p.V399V	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	473					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						GGCATGTAAGAACACTTGGAT	0.473													G	135870304	A	G	135870304	2	3	189	1	0	0	0	0	0	0	0	1	9878	233	9	3		3	MSL2	3	135870304	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2402887	135870304	62152126	1096	98953											
STAG1	10274	broad.mit.edu	37	chr3	136057249	136057249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcagagtcaaagaagTctggccttagctcagctctc	10	11	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:136057249T>C	uc003era.1	-	33	4008	c.3716A>G	c.(3715-3717)GAC>GGC	p.D1239G	STAG1_uc003erb.1_Missense_Mutation_p.D1202G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1239					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						GTCAAAGAAGTCTGGCCTTAG	0.368													C	136057249	T	C	136057249	3	2	189	1	0	0	0	0	1	0	0	0	15241	1667	58	3	68	3	STAG1	3	136057249	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	186945	136057249	61965181	1097	98954											
STAG1	10274	broad.mit.edu	37	chr3	136062728	136062728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaggttcttgaatctggTctcccatgggccgactgttc	10	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:136062728T>C	uc003era.1	-	30	3684	c.3392A>G	c.(3391-3393)GAC>GGC	p.D1131G	STAG1_uc003erb.1_Missense_Mutation_p.D1131G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1131					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TTGAATCTGGTCTCCCATGGG	0.458													C	136062728	T	C	136062728	3	2	189	1	0	0	0	0	1	0	0	0	15241	1667	58	3	404	3	STAG1	3	136062728	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5479	136062728	61959702	1098	98955											
STAG1	10274	broad.mit.edu	37	chr3	136240262	136240262	+	Splice_Site	DEL	A	A	-													aggataatcaccactgtcctAaaaaacagaaaaagaacata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:136240261_136240261TA>T	uc003era.1	-	7	764	c.472_splice	c.e7-1	p.D158_splice	STAG1_uc003erb.1_Splice_Site_p.D158_splice|STAG1_uc003erc.1_Splice_Site|STAG1_uc010hua.1_Splice_Site_p.D21_splice|STAG1_uc003ere.3_Splice_Site_p.D158_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	158					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						ACCACTGTCCTAAAAAACAGA	0.358													-	136240262	A	-	136240262	8	5	189	1	0	1	0	1	0	0	1	0	15241	377	13	0		0	STAG1	3	136240262	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	177534	136240262	61782168	1099	98956											
DBR1	51163	broad.mit.edu	37	chr3	137886057	137886057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttcttgtcggaaaaaagAtttagtcttaagaagttgct	8	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:137886057A>G	uc003erv.2	-	5	716	c.580T>C	c.(580-582)TCT>CCT	p.S194P	DBR1_uc003eru.2_Missense_Mutation_p.S143P	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	194						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CGGAAAAAAGATTTAGTCTTA	0.368													G	137886057	A	G	137886057	3	3	189	1	0	0	0	0	1	0	0	0	4257	333	12	3	1070	3	DBR1	3	137886057	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1645795	137886057	60136373	1100	98957											
ESYT3	83850	broad.mit.edu	37	chr3	138193080	138193080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaacctaacaccatgtaCcagcagtggagctgatccct	8	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:138193080C>T	uc003esk.2	+	20	2580	c.2354C>T	c.(2353-2355)ACC>ATC	p.T785I		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	785	C2 3.					integral to membrane|plasma membrane					0						ACACCATGTACCAGCAGTGGA	0.448													T	138193080	C	T	138193080	3	4	189	1	0	0	0	0	1	0	0	0	5266	507	18	4	2432	4	ESYT3	3	138193080	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	307023	138193080	59829350	1101	98958											
COPB2	9276	broad.mit.edu	37	chr3	139077910	139077910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccattcttcaacaacaAaggcttcttttaatccaggg	5	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:139077910A>G	uc003etf.3	-	19	2544	c.2414T>C	c.(2413-2415)TTT>TCT	p.F805S	COPB2_uc011bmv.1_Missense_Mutation_p.F776S|COPB2_uc010hui.2_Missense_Mutation_p.F776S	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	805					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			ovary(2)	2						TTCAACAACAAAGGCTTCTTT	0.453													G	139077910	A	G	139077910	3	3	189	1	0	0	0	0	1	0	0	0	3729	14	1	3	322	3	COPB2	3	139077910	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	884830	139077910	58944520	1102	98959											
RBP2	5948	broad.mit.edu	37	chr3	139173585	139173585	+	Frame_Shift_Del	DEL	C	C	-													acttaccaggtacagcttgtCcccctcaatccactgcttcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:139173584_139173584TC>T	uc003eth.3	-	2	392	c.341_341GA>A	c.(340-342)gacfs	p.D114fs		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	114				D -> G (in Ref. 4; AAH69396).	epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GTACAGCTTGTCCCCCTCAAT	0.517													-	139173585	C	-	139173585	7	5	189	1	0	1	0	1	0	0	0	0	13156	855	30	0	72	0	RBP2	3	139173585	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	95675	139173585	58848845	1103	98960											
TRIM42	287015	broad.mit.edu	37	chr3	140406631	140406631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagctttaaagctgacaaGgaggcaaagcgaaaagagat	11	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:140406631G>T	uc003eto.1	+	3	1298	c.1107G>T	c.(1105-1107)AAG>AAT	p.K369N		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	369						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						AAGCTGACAAGGAGGCAAAGC	0.363													T	140406631	G	T	140406631	3	4	189	1	0	0	0	0	1	0	0	0	16514	991	35	5	1117	5	TRIM42	3	140406631	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1233046	140406631	57615799	1104	98961											
ZBTB38	253461	broad.mit.edu	37	chr3	141162875	141162876	+	Frame_Shift_Ins	INS	-	-	A													tcatagactttccatcagtaINSaaaaaacagcaaatggaggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:141162874_141162875T>TA	uc010hup.3	+	1	1694_1695	c.1647_1648T>TA	c.(1645-1650)agtaaafs	p.S549fs	ZBTB38_uc003etw.3_Frame_Shift_Ins_p.S548fs|ZBTB38_uc010hun.3_Frame_Shift_Ins_p.S545fs|ZBTB38_uc010huo.3_Frame_Shift_Ins_p.S548fs|ZBTB38_uc003ety.3_Frame_Shift_Ins_p.S548fs|ZBTB38_uc021xes.1_Frame_Shift_Ins_p.S548fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	548					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						TTTCCATCAGTAAAAAAACAGC	0.386													A	141162876	-	A	141162875	7	5	189	1	0	1	1	0	0	0	0	0	17536	363	13	0	1647	0	ZBTB38	3	141162875	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	756244	141162875	56859555	1105	98962											
RASA2	5922	broad.mit.edu	37	chr3	141292021	141292021	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatcctgtgaaatcgaTcctattaaattgaaagaggg	8	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:141292021T>C	uc003etz.1	+	13	1317	c.1317T>C	c.(1315-1317)GAT>GAC	p.D439D	RASA2_uc010huq.1_Silent_p.D439D|RASA2_uc003eua.1_Silent_p.D439D|RASA2_uc011bnc.1_Silent_p.D31D	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	439	Ras-GAP.				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			ovary(2)|lung(2)|breast(1)|skin(1)	6						GTGAAATCGATCCTATTAAAT	0.254													C	141292021	T	C	141292021	2	2	189	1	0	0	0	0	0	0	0	1	13061	1432	50	3		3	RASA2	3	141292021	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	129146	141292021	56730409	1106	98963											
RASA2	5922	broad.mit.edu	37	chr3	141300007	141300007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaaggatatattatAgcagttaaaaaggtatgatg	10	2	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:141300007A>G	uc003etz.1	+	17	1740	c.1740A>G	c.(1738-1740)ATA>ATG	p.I580M	RASA2_uc010huq.1_Missense_Mutation_p.I580M|RASA2_uc003eua.1_Missense_Mutation_p.I580M|RASA2_uc011bnc.1_Missense_Mutation_p.I172M	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	580					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			ovary(2)|lung(2)|breast(1)|skin(1)	6						GATATATTATAGCAGTTAAAA	0.249													G	141300007	A	G	141300007	3	3	189	1	0	0	0	0	1	0	0	0	13061	410	15	3	1806	3	RASA2	3	141300007	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7986	141300007	56722423	1107	98964											
GRK7	131890	broad.mit.edu	37	chr3	141535708	141535708	+	Frame_Shift_Del	DEL	G	G	-													tgatgatttctctgaggttcGgggggtggaatttgatgaca					rs149574289		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:141535707_141535707CG>C	uc011bnd.2	+	3	1561	c.1477_1477CG>C	c.(1477-1479)cggfs	p.R493fs		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGA	0.458													-	141535708	G	-	141535708	7	5	189	1	0	1	0	1	0	0	0	0	6794	1116	39	0	1492	0	GRK7	3	141535708	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	235701	141535708	56486722	1108	98965											
XRN1	54464	broad.mit.edu	37	chr3	142103414	142103414	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttgttttgaccactgtTtctctagacgaacttcacca	5	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:142103414T>G	uc003eus.2	-	21	2520	c.2453A>C	c.(2452-2454)AAA>ACA	p.K818T	XRN1_uc010huu.2_Missense_Mutation_p.K284T|XRN1_uc003eut.2_Missense_Mutation_p.K818T|XRN1_uc003euu.2_Missense_Mutation_p.K818T|XRN1_uc003euv.1_Missense_Mutation_p.K679T	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	818					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			ovary(3)	3						TGACCACTGTTTCTCTAGACG	0.303													G	142103414	T	G	142103414	3	3	189	1	0	0	0	0	1	0	0	0	17456	1841	64	5	2755	5	XRN1	3	142103414	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	567706	142103414	55919016	1109	98966											
XRN1	54464	broad.mit.edu	37	chr3	142137699	142137699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttttgtctaaagcagTccaacacagagaattttcct	5	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:142137699T>C	uc003eus.2	-	11	1265	c.1198A>G	c.(1198-1200)ACT>GCT	p.T400A	XRN1_uc003eut.2_Missense_Mutation_p.T400A|XRN1_uc003euu.2_Missense_Mutation_p.T400A|XRN1_uc003euv.1_Missense_Mutation_p.T261A|XRN1_uc003euw.2_Missense_Mutation_p.T400A|XRN1_uc011bnh.1_Missense_Mutation_p.T190A	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	400					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			ovary(3)	3						TCTAAAGCAGTCCAACACAGA	0.338													C	142137699	T	C	142137699	3	2	189	1	0	0	0	0	1	0	0	0	17456	1667	58	3	4050	3	XRN1	3	142137699	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	34285	142137699	55884731	1110	98967											
ATR	545	broad.mit.edu	37	chr3	142188315	142188315	+	Frame_Shift_Del	DEL	A	A	-													tcaattgtgaaaaagcagtcAaaaattgatatggagctaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:142188314_142188314CA>C	uc003eux.4	-	37	6539	c.6417_6417TG>G	c.(6415-6417)ttgfs	p.L2139fs	ATR_uc003euy.1_Frame_Shift_Del_p.L25fs	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2139	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|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						AAAAAGCAGTCAAAAATTGAT	0.368								Other conserved DNA damage response genes					-	142188315	A	-	142188315	7	5	189	1	0	1	0	1	0	0	0	0	1204	131	5	0	1558	0	ATR	3	142188315	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	50616	142188315	55834115	1111	98968											
PLS1	5357	broad.mit.edu	37	chr3	142423328	142423328	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacattgaatgtgttatcggAtcttggagagggtgaaaaag	13	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:142423328A>T	uc010huv.2	+	14	1688	c.1529A>T	c.(1528-1530)GAT>GTT	p.D510V	PLS1_uc003euz.2_Missense_Mutation_p.D510V|PLS1_uc003eva.2_Missense_Mutation_p.D510V	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN	plastin 1	510	Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(1)	1						GTGTTATCGGATCTTGGAGAG	0.313													T	142423328	A	T	142423328	3	4	189	1	0	0	0	0	1	0	0	0	12107	333	12	5	1579	5	PLS1	3	142423328	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	235013	142423328	55599102	1112	98969											
SLC9A9	285195	broad.mit.edu	37	chr3	142987779	142987779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccattcaggtaatgttgTagtcagcggaggaccagagt	12	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:142987779T>C	uc003evn.2	-	15	1830	c.1648A>G	c.(1648-1650)ACA>GCA	p.T550A		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	550					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GGTAATGTTGTAGTCAGCGGA	0.473													C	142987779	T	C	142987779	3	2	189	1	0	0	0	0	1	0	0	0	14721	1638	57	3	297	3	SLC9A9	3	142987779	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	564451	142987779	55034651	1113	98970											
PLSCR4	57088	broad.mit.edu	37	chr3	145914557	145914557	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaaagccaatggtgacAccaggaggacactgcacctc	10	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:145914557A>G	uc010huy.2	-	7	977	c.648T>C	c.(646-648)GGT>GGC	p.G216G	PLSCR4_uc010huz.2_Silent_p.G216G|PLSCR4_uc003evt.3_Silent_p.G216G|PLSCR4_uc010hva.2_Silent_p.G126G|PLSCR4_uc003evu.3_Silent_p.G111G	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	216	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						CAATGGTGACACCAGGAGGAC	0.463													G	145914557	A	G	145914557	2	3	189	1	0	0	0	0	0	0	0	1	12112	146	6	3		3	PLSCR4	3	145914557	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2926778	145914557	52107873	1114	98971											
ZIC4	84107	broad.mit.edu	37	chr3	147120530	147120530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgactctttaagagTgtttcggtaaagccgtaatc	8	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:147120530T>C	uc003ewd.1	-	2	328	c.55A>G	c.(55-57)ACT>GCT	p.T19A	ZIC4_uc011bno.1_Missense_Mutation_p.T69A	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	19						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						TCTTTAAGAGTGTTTCGGTAA	0.323													C	147120530	T	C	147120530	3	2	189	1	0	0	0	0	1	0	0	0	17678	1696	59	3	965	3	ZIC4	3	147120530	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1205973	147120530	50901900	1115	98972											
ZIC1	7545	broad.mit.edu	37	chr3	147128763	147128763	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaaagccaaatacaaActggttaaccacatccgcgt	5	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:147128763A>G	uc003ewe.2	+	1	1583	c.864A>G	c.(862-864)AAA>AAG	p.K288K		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	288	C2H2-type 2; atypical.				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			ovary(1)|central_nervous_system(1)	2						CCAAATACAAACTGGTTAACC	0.587													G	147128763	A	G	147128763	2	3	189	1	0	0	0	0	0	0	0	1	17675	40	2	3		3	ZIC1	3	147128763	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8233	147128763	50893667	1116	98973											
RNF13	11342	broad.mit.edu	37	chr3	149589943	149589943	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaattttgatataaaggTatgattatcttttttcattt	5	2	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:149589943T>C	uc003exn.3	+	5	1105	c.321_splice	c.e5+2	p.K107_splice	RNF13_uc003exp.3_Splice_Site_p.K107_splice|RNF13_uc010hvh.2_Splice_Site	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13						protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GATATAAAGGTATGATTATCT	0.294													C	149589943	T	C	149589943	5	2	189	1	0	0	0	0	0	0	1	0	13437	1652	57	3	333	3	RNF13	3	149589943	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2461180	149589943	48432487	1117	98974											
P2RY14	9934	broad.mit.edu	37	chr3	150931733	150931733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagtccaaagaggcttTacaattttataatatctgtc	6	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:150931733T>C	uc003eyr.1	-	3	850	c.372A>G	c.(370-372)GTA>GTG	p.V124V	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Silent_p.V124V	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	124	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAAGAGGCTTTACAATTTTAT	0.423													C	150931733	T	C	150931733	2	2	189	1	0	0	0	0	0	0	0	1	11351	1741	61	3		3	P2RY14	3	150931733	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1341790	150931733	47090697	1118	98975											
P2RY13	53829	broad.mit.edu	37	chr3	151046137	151046137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggactttctataagaatcaTatactttttttgcaataacc	4	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:151046137T>C	uc003eyv.2	-	2	728	c.707A>G	c.(706-708)TAT>TGT	p.Y236C	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	236	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATAAGAATCATATACTTTTTT	0.328													C	151046137	T	C	151046137	3	2	189	1	0	0	0	0	1	0	0	0	11350	1406	49	3	361	3	P2RY13	3	151046137	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	114404	151046137	46976293	1119	98976											
MED12L	116931	broad.mit.edu	37	chr3	151085530	151085530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtcgtgcagcatgtcGcacttccctctcttctagca	9	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:151085530G>A	uc003eyp.2	+	22	3357	c.3319G>A	c.(3319-3321)GCA>ACA	p.A1107T	MED12L_uc011bnz.1_Missense_Mutation_p.A967T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A270T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCATGTCGCACTTCCCTC	0.453													A	151085530	G	A	151085530	3	1	189	1	0	0	0	0	1	0	0	0	9429	1087	38	1	3405	1	MED12L	3	151085530	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	39393	151085530	46936900	1120	98977											
IGSF10	285313	broad.mit.edu	37	chr3	151155548	151155548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccacatgacttcaggagaTggtgtcccttcagctctgca	9	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:151155548T>C	uc011bod.1	-	6	6801	c.6801A>G	c.(6799-6801)CCA>CCG	p.P2267P	IGSF10_uc011bob.1_Silent_p.P294P|IGSF10_uc011boc.1_Silent_p.P246P	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2267	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTCAGGAGATGGTGTCCCTT	0.408													C	151155548	T	C	151155548	2	2	189	1	0	0	0	0	0	0	0	1	7597	1451	51	3		3	IGSF10	3	151155548	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	70018	151155548	46866882	1121	98978											
AADACL2	344752	broad.mit.edu	37	chr3	151475230	151475230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatggacttatgtatgttAcaagacttcgaaatgttgga	10	4	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:151475230A>G	uc003ezc.2	+	5	1174	c.1054A>G	c.(1054-1056)ACA>GCA	p.T352A	AADACL2_uc010hvn.2_Missense_Mutation_p.T139A	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	352						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATGTATGTTACAAGACTTCG	0.358													G	151475230	A	G	151475230	3	3	189	1	0	0	0	0	1	0	0	0	11	391	14	3	1072	3	AADACL2	3	151475230	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	319682	151475230	46547200	1122	98979											
SLC33A1	9197	broad.mit.edu	37	chr3	155560327	155560327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtttcttcttttactActgatacttcgttttctttt	4	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:155560327A>G	uc003fan.3	-	2	1238	c.857T>C	c.(856-858)GTA>GCA	p.V286A	SLC33A1_uc003fao.1_Missense_Mutation_p.V286A	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	286	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCTTTTACTACTGATACTTC	0.318													G	155560327	A	G	155560327	3	3	189	1	0	0	0	0	1	0	0	0	14566	391	14	3	812	3	SLC33A1	3	155560327	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4085097	155560327	42462103	1123	98980											
GFM1	85476	broad.mit.edu	37	chr3	158402330	158402330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtttttagatgcctgCgagaagggccctctttctgg	14	9	2	2	rs141903395		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:158402330C>T	uc003fce.2	+	15	1889	c.1782C>T	c.(1780-1782)TGC>TGT	p.C594C	GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.C525C	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	594					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TAGATGCCTGCGAGAAGGGCC	0.438													T	158402330	C	T	158402330	2	4	189	1	0	0	0	0	0	0	0	1	6341	776	27	1		1	GFM1	3	158402330	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2842003	158402330	39620100	1124	98981											
NMD3	51068	broad.mit.edu	37	chr3	160955951	160955951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacatgctcagaagatggtcGaatttcttcagtgtacagtt	9	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:160955951G>A	uc003feb.1	+	8	747	c.628G>A	c.(628-630)GAA>AAA	p.E210K	NMD3_uc003fec.2_Missense_Mutation_p.E210K|NMD3_uc003fed.1_Missense_Mutation_p.E210K|NMD3_uc010hwh.2_Missense_Mutation_p.E30K	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	210					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GAAGATGGTCGAATTTCTTCA	0.338													A	160955951	G	A	160955951	3	1	189	1	0	0	0	0	1	0	0	0	10488	1059	37	1	654	1	NMD3	3	160955951	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2553621	160955951	37066479	1125	98982											
SI	6476	broad.mit.edu	37	chr3	164767648	164767648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccttgaataaagctggAaacttcattcatgtcctgaa	7	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:164767648A>G	uc003fei.2	-	14	1590	c.1528T>C	c.(1528-1530)TCC>CCC	p.S510P		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	510	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATAAAGCTGGAAACTTCATTC	0.294										HNSCC(35;0.089)			G	164767648	A	G	164767648	3	3	189	1	0	0	0	0	1	0	0	0	14297	246	9	3	4095	3	SI	3	164767648	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3811697	164767648	33254782	1126	98983											
GOLIM4	27333	broad.mit.edu	37	chr3	167750468	167750468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccagggcctttctgTgctcctcttccacctgatgc	7	18	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:167750468T>C	uc003ffe.2	-	9	1360	c.1016A>G	c.(1015-1017)CAC>CGC	p.H339R	GOLIM4_uc011bpe.1_Missense_Mutation_p.H339R|GOLIM4_uc011bpf.1_Missense_Mutation_p.H311R|GOLIM4_uc011bpg.1_Missense_Mutation_p.H311R	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	339	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						GGCCTTTCTGTGCTCCTCTTC	0.562													C	167750468	T	C	167750468	3	2	189	1	0	0	0	0	1	0	0	0	6566	1696	59	3	1106	3	GOLIM4	3	167750468	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2982820	167750468	30271962	1127	98984											
SLC7A14	57709	broad.mit.edu	37	chr3	170198305	170198305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagctctgctctgagatgTagtcagaaccaaagatgatg	10	9	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:170198305T>C	uc003fgz.2	-	7	2082	c.1766A>G	c.(1765-1767)TAC>TGC	p.Y589C	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	589						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			CTCTGAGATGTAGTCAGAACC	0.562													C	170198305	T	C	170198305	3	2	189	1	0	0	0	0	1	0	0	0	14696	1638	57	3	557	3	SLC7A14	3	170198305	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2447837	170198305	27824125	1128	98985											
PLD1	5337	broad.mit.edu	37	chr3	171405313	171405313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcttctggatgggtaggTtttgaacaggctcattttta	10	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:171405313T>C	uc003fhs.2	-	15	1717	c.1601A>G	c.(1600-1602)AAC>AGC	p.N534S	PLD1_uc003fht.2_Missense_Mutation_p.N534S	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	534	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			ovary(2)|lung(1)	3	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)	GATGGGTAGGTTTTGAACAGG	0.373													C	171405313	T	C	171405313	3	2	189	1	0	0	0	0	1	0	0	0	12045	1725	60	3	1675	3	PLD1	3	171405313	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1207008	171405313	26617117	1129	98986											
PLD1	5337	broad.mit.edu	37	chr3	171406516	171406516	+	Missense_Mutation	SNP	C	C	T													gacccgcttcacactgcccaCgtctgtgagtctgtgctcat					rs149680370		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:171406516C>T	uc003fhs.2	-	14	1605	c.1489G>A	c.(1489-1491)GTG>ATG	p.V497M	PLD1_uc003fht.2_Missense_Mutation_p.V497M	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	497	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			ovary(2)|lung(1)	3	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)	ACACTGCCCACGTCTGTGAGT	0.483													T	171406516	C	T	171406516	3	4	189	1	0	0	0	0	1	0	0	0	12045	536	19	1	1791	1	PLD1	3	171406516	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1203	171406516	26615914	1130	98987	488	2									
PLD1	5337	broad.mit.edu	37	chr3	171406526	171406526	+	Silent	SNP	T	T	C													acactgcccacgtctgtgagTctgtgctcattgtcgtccca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:171406526T>C	uc003fhs.2	-	14	1595	c.1479A>G	c.(1477-1479)AGA>AGG	p.R493R	PLD1_uc003fht.2_Silent_p.R493R	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	493	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			ovary(2)|lung(1)	3	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)	CGTCTGTGAGTCTGTGCTCAT	0.507													C	171406526	T	C	171406526	2	2	189	1	0	0	0	0	0	0	0	1	12045	1664	58	3		3	PLD1	3	171406526	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10	171406526	26615904	1131	98988	488	2									
PLD1	5337	broad.mit.edu	37	chr3	171455811	171455811	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattttctgcagtgcagaggTatttacccgtggctcgtttt	10	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:171455811T>A	uc003fhs.2	-	2	147	c.31A>T	c.(31-33)ACC>TCC	p.T11S	PLD1_uc003fht.2_Missense_Mutation_p.T11S	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	11					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			ovary(2)|lung(1)	3	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)	AGTGCAGAGGTATTTACCCGT	0.433													A	171455811	T	A	171455811	3	1	189	1	0	0	0	0	1	0	0	0	12045	1638	57	5	3297	5	PLD1	3	171455811	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	49285	171455811	26566619	1132	98989											
FNDC3B	64778	broad.mit.edu	37	chr3	172065073	172065073	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaagaatccttagaActcatttatcatgggacaga	9	6	2	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:172065073A>G	uc003fhy.2	+	21	2608	c.2436A>G	c.(2434-2436)GAA>GAG	p.E812E	FNDC3B_uc003fhz.3_Silent_p.E812E	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	812	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	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)		AATCCTTAGAACTCATTTATC	0.428													G	172065073	A	G	172065073	2	3	189	1	0	0	0	0	0	0	0	1	5970	40	2	3		3	FNDC3B	3	172065073	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	609262	172065073	25957357	1133	98990											
NCEH1	57552	broad.mit.edu	37	chr3	172365860	172365860	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaatgataaaattcagTgccagcaggtgatggctcag	11	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:172365860T>C	uc011bpx.1	-	2	417	c.279A>G	c.(277-279)GCA>GCG	p.A93A	NCEH1_uc003fig.2_Silent_p.A93A|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	61	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						TAAAATTCAGTGCCAGCAGGT	0.507													C	172365860	T	C	172365860	2	2	189	1	0	0	0	0	0	0	0	1	10215	1683	59	3		3	NCEH1	3	172365860	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	300787	172365860	25656570	1134	98991											
NLGN1	22871	broad.mit.edu	37	chr3	173322505	173322505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgggatgtttgcttcaGgctggccatgtgctatcaca	12	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:173322505G>A	uc003fio.1	+	3	540	c.117G>A	c.(115-117)CAG>CAA	p.Q39Q	NLGN1_uc010hww.1_Silent_p.Q39Q|NLGN1_uc003fip.1_Silent_p.Q39Q	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	39					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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTTTGCTTCAGGCTGGCCATG	0.468													A	173322505	G	A	173322505	2	1	189	1	0	0	0	0	0	0	0	1	10461	991	35	4		4	NLGN1	3	173322505	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	956645	173322505	24699925	1135	98992											
NLGN1	22871	broad.mit.edu	37	chr3	173998423	173998423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagaacattacagagccaAtaaggtgaacctctggttgg	10	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:173998423A>G	uc003fio.1	+	7	2225	c.1802A>G	c.(1801-1803)AAT>AGT	p.N601S	NLGN1_uc003fip.1_Missense_Mutation_p.N601S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	618	Extracellular (Potential).				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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACAGAGCCAATAAGGTGAAC	0.388													G	173998423	A	G	173998423	3	3	189	1	0	0	0	0	1	0	0	0	10461	101	4	3	1820	3	NLGN1	3	173998423	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	675918	173998423	24024007	1136	98993											
NAALADL2	254827	broad.mit.edu	37	chr3	174814922	174814922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacgtcttaaaaatacTttgcacagccaccattttat	4	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:174814922T>C	uc003fit.2	+	2	473	c.386T>C	c.(385-387)CTT>CCT	p.L129P	NAALADL2_uc003fiu.1_Missense_Mutation_p.L122P	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	129	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		TTAAAAATACTTTGCACAGCC	0.383													C	174814922	T	C	174814922	3	2	189	1	0	0	0	0	1	0	0	0	10130	1609	56	3	392	3	NAALADL2	3	174814922	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	816499	174814922	23207508	1137	98994											
ZMAT3	64393	broad.mit.edu	37	chr3	178745553	178745553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagagcttacagtaatcAttctccgtggccaggatcac	8	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:178745553A>G	uc003fjg.2	-	4	697	c.438T>C	c.(436-438)AAT>AAC	p.N146N	ZMAT3_uc010hxa.2_Silent_p.N146N|ZMAT3_uc003fji.2_Silent_p.N146N	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	146					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TACAGTAATCATTCTCCGTGG	0.493													G	178745553	A	G	178745553	2	3	189	1	0	0	0	0	0	0	0	1	17690	214	8	3		3	ZMAT3	3	178745553	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3930631	178745553	19276877	1138	98995											
PIK3CA	5290	broad.mit.edu	37	chr3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggcaaccgtgaagaaAagatcctcaatcgagaaatt	9	8	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:178916944A>G	uc003fjk.2	+	2	488	c.331A>G	c.(331-333)AAG>GAG	p.K111E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	111					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.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916944	A	G	178916944	3	3	189	1	0	0	0	0	1	0	0	0	11913	15	1	3	333	3	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	171391	178916944	19105486	1139	98996											
PIK3CA	5290	broad.mit.edu	37	chr3	178948070	178948070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaaaaatttggttatAaacgagaacgtgtgccattt	9	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:178948070A>G	uc003fjk.2	+	20	2999	c.2842A>G	c.(2842-2844)AAA>GAA	p.K948E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	948	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			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			ATTTGGTTATAAACGAGAACG	0.323		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178948070	A	G	178948070	3	3	189	1	0	0	0	0	1	0	0	0	11913	363	13	3	2916	3	PIK3CA	3	178948070	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	31126	178948070	19074360	1140	98997											
ATP11B	23200	broad.mit.edu	37	chr3	182587085	182587086	+	Frame_Shift_Ins	INS	-	-	A													tgtataggtggagaaatagaINSaaaaaccagaattcatgtag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:182587084_182587085G>GA	uc003flb.3	+	16	2088_2089	c.1831_1832G>GA	c.(1831-1833)gaafs	p.E611fs	ATP11B_uc003flc.3_Frame_Shift_Ins_p.E195fs	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	611					ATP biosynthetic process|aminophospholipid transport	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)			TGGAGAAATAGAAAAAACCAGA	0.292													A	182587086	-	A	182587085	7	5	189	1	0	1	1	0	0	0	0	0	1120	246	9	0	1898	0	ATP11B	3	182587085	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	3639015	182587085	15435345	1141	98998											
B3GNT5	84002	broad.mit.edu	37	chr3	182987868	182987868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctccttttactgtttgtAaaaactgctcctgaaaacta	5	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:182987868A>G	uc003flk.2	+	2	812	c.282A>G	c.(280-282)GTA>GTG	p.V94V	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Silent_p.V94V|B3GNT5_uc003flm.2_Silent_p.V94V	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	94	Lumenal (Potential).				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			ovary(1)	1	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)			TACTGTTTGTAAAAACTGCTC	0.453													G	182987868	A	G	182987868	2	3	189	1	0	0	0	0	0	0	0	1	1260	349	13	3		3	B3GNT5	3	182987868	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	400783	182987868	15034562	1142	98999											
B3GNT5	84002	broad.mit.edu	37	chr3	182987918	182987919	+	Frame_Shift_Ins	INS	-	-	G													tccggaattagaaggacgtgINSgggcaatgaaaattatgttc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:182987917_182987918T>TG	uc003flm.3	+	1	854_855	c.331_332T>TG	c.(331-333)tggfs	p.W111fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Ins_p.W111fs|B3GNT5_uc003fll.3_Frame_Shift_Ins_p.W111fs|B3GNT5_uc021xic.1_Frame_Shift_Ins_p.W111fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	111					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	p.T110T(1)		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)			TAGAAGGACGTGGGGCAATGAA	0.426													G	182987919	-	G	182987918	7	5	189	1	0	1	1	0	0	0	0	0	1260	1357	47	0	334	0	B3GNT5	3	182987918	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	50	182987918	15034512	1143	99000											
KLHL6	89857	broad.mit.edu	37	chr3	183225901	183225901	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagcgggaagacctcTgggcactgcctgatgagagg	17	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:183225901T>C	uc003flr.2	-	3	913	c.855A>G	c.(853-855)CCA>CCG	p.P285P	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.P283P	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	285										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	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)			GGAAGACCTCTGGGCACTGCC	0.532													C	183225901	T	C	183225901	2	2	189	1	0	0	0	0	0	0	0	1	8393	1567	55	3		3	KLHL6	3	183225901	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	237983	183225901	14796529	1144	99001											
YEATS2	55689	broad.mit.edu	37	chr3	183508661	183508661	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcagcaagtgtgtgTgagccaggccaccgtgggaa	17	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:183508661T>A	uc003fly.2	+	21	3185	c.2990T>A	c.(2989-2991)GTG>GAG	p.V997E	YEATS2_uc003flz.2_Missense_Mutation_p.V76E	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	997					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	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)			CAAGTGTGTGTGAGCCAGGCC	0.592													A	183508661	T	A	183508661	3	1	189	1	0	0	0	0	1	0	0	0	17469	1696	59	5	3068	5	YEATS2	3	183508661	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	282760	183508661	14513769	1145	99002											
ABCF3	55324	broad.mit.edu	37	chr3	183906155	183906155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcgagaggatttgctaCggagggagcgggagctcact	18	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:183906155C>T	uc003fmz.2	+	7	929	c.796C>T	c.(796-798)CGG>TGG	p.R266W	ABCF3_uc003fna.2_Missense_Mutation_p.R260W|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	266	ABC transporter 1.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATTTGCTACGGAGGGAGCG	0.602													T	183906155	C	T	183906155	3	4	189	1	0	0	0	0	1	0	0	0	67	527	19	1	822	1	ABCF3	3	183906155	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	397494	183906155	14116275	1146	99003											
PSMD2	5708	broad.mit.edu	37	chr3	184019697	184019697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgcagagaaggtccagcGggagcctctgctcactctgg	14	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:184019697G>A	uc003fnn.1	+	5	575	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	PSMD2_uc011brj.1_Missense_Mutation_p.R22Q|PSMD2_uc011brk.1_Missense_Mutation_p.R51Q	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	181					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				0	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)	AAGGTCCAGCGGGAGCCTCTG	0.542													A	184019697	G	A	184019697	3	1	189	1	0	0	0	0	1	0	0	0	12698	1116	39	1	560	1	PSMD2	3	184019697	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	113542	184019697	14002733	1147	99004											
PSMD2	5708	broad.mit.edu	37	chr3	184020206	184020206	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcagccctactgcgttgTgccctgggtgtgttccgaaa	11	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:184020206T>C	uc003fnn.1	+	6	786	c.753T>C	c.(751-753)TGT>TGC	p.C251C	PSMD2_uc011brj.1_Silent_p.C92C|PSMD2_uc011brk.1_Silent_p.C121C	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	251					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				0	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)	TACTGCGTTGTGCCCTGGGTG	0.463													C	184020206	T	C	184020206	2	2	189	1	0	0	0	0	0	0	0	1	12698	1702	59	3		3	PSMD2	3	184020206	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	509	184020206	14002224	1148	99005											
CLCN2	1181	broad.mit.edu	37	chr3	184070896	184070896	+	Frame_Shift_Del	DEL	C	C	-													ctttaggggcttgtgggtctCcccccgggctgctgggaagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:184070895_184070895TC>T	uc003foi.3	-	17	2193	c.2069_2069GA>A	c.(2068-2070)gagfs	p.E690fs	CLCN2_uc003foh.3_Frame_Shift_Del_p.E214fs|CLCN2_uc010hya.2_Frame_Shift_Del_p.E673fs|CLCN2_uc011brl.2_Frame_Shift_Del_p.E690fs|CLCN2_uc011brm.2_Frame_Shift_Del_p.E646fs	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	690						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)	CTTGTGGGTCTCCCCCCGGGC	0.622													-	184070896	C	-	184070896	7	5	189	1	0	1	0	1	0	0	0	0	3463	864	30	0	656	0	CLCN2	3	184070896	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	50690	184070896	13951534	1149	99006											
VPS8	23355	broad.mit.edu	37	chr3	184557512	184557512	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtctgatagcagtgggTacatctcatggattggcttt	11	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:184557512T>C	uc003fpb.1	+	7	678	c.507T>C	c.(505-507)GGT>GGC	p.G169G	VPS8_uc010hyd.1_Silent_p.G169G|VPS8_uc003fpc.1_3'UTR	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	169							zinc ion binding			ovary(1)	1	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)			TAGCAGTGGGTACATCTCATG	0.313													C	184557512	T	C	184557512	2	2	189	1	0	0	0	0	0	0	0	1	17215	1625	57	3		3	VPS8	3	184557512	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	486616	184557512	13464918	1150	99007											
C3orf70	285382	broad.mit.edu	37	chr3	184801194	184801194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacagtacctcggtgagtcAgggggaaggggaggctggaa	18	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:184801194A>G	uc003fpd.2	-	2	545	c.354T>C	c.(352-354)CCT>CCC	p.P118P		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	118											0						TCGGTGAGTCAGGGGGAAGGG	0.473													G	184801194	A	G	184801194	2	3	189	1	0	0	0	0	0	0	0	1	2242	175	7	3		3	C3orf70	3	184801194	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	243682	184801194	13221236	1151	99008											
TRA2B	6434	broad.mit.edu	37	chr3	185641624	185641624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaaatatacaaaggcaAatcctcttgaacgcctagac	5	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:185641624A>G	uc003fpv.2	-	4	758	c.482T>C	c.(481-483)TTT>TCT	p.F161S	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.F61S|TRA2B_uc003fpw.2_Missense_Mutation_p.F161S	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	161	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						TACAAAGGCAAATCCTCTTGA	0.388													G	185641624	A	G	185641624	3	3	189	1	0	0	0	0	1	0	0	0	16431	14	1	3	408	3	TRA2B	3	185641624	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	840430	185641624	12380806	1152	99009											
ETV5	2119	broad.mit.edu	37	chr3	185769827	185769827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatggctcaccttctgcaTgatgcccttttcatagtaat	6	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:185769827T>C	uc003fpz.2	-	12	1550	c.1303A>G	c.(1303-1305)ATG>GTG	p.M435V	ETV5_uc003fpy.2_Missense_Mutation_p.M477V	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	435	ETS.				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACCTTCTGCATGATGCCCTTT	0.517			T	TMPRSS2|SCL45A3	Prostate 								C	185769827	T	C	185769827	3	2	189	1	0	0	0	0	1	0	0	0	5282	1464	51	3	237	3	ETV5	3	185769827	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	128203	185769827	12252603	1153	99010											
CRYGS	1427	broad.mit.edu	37	chr3	186256602	186256602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtagttgggtagctcAtagaaaatccagacaccctc	9	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:186256602A>G	uc003fqe.2	-	3	472	c.420T>C	c.(418-420)TAT>TAC	p.Y140Y	CRYGS_uc003fqf.2_Silent_p.Y140Y	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	140	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TGGGTAGCTCATAGAAAATCC	0.532													G	186256602	A	G	186256602	2	3	189	1	0	0	0	0	0	0	0	1	3919	224	8	3		3	CRYGS	3	186256602	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	486775	186256602	11765828	1154	99011											
LEPREL1	55214	broad.mit.edu	37	chr3	189705372	189705372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagcagactctcatagtAatccacattgtctaggacat	6	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:189705372A>G	uc011bsk.1	-	5	1430	c.1042T>C	c.(1042-1044)TAC>CAC	p.Y348H	LEPREL1_uc003fsg.2_Missense_Mutation_p.Y167H	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	348					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			breast(3)|ovary(1)	4	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)	CTCTCATAGTAATCCACATTG	0.413													G	189705372	A	G	189705372	3	3	189	1	0	0	0	0	1	0	0	0	8730	362	13	3	1128	3	LEPREL1	3	189705372	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3448770	189705372	8317058	1155	99012											
CLDN16	10686	broad.mit.edu	37	chr3	190126276	190126276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgttctcacctgcTgcttatatctttttaaaggt	8	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:190126276T>C	uc003fsi.2	+	4	834	c.766T>C	c.(766-768)TGC>CGC	p.C256R	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	256	Helical; (Potential).				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			ovary(1)	1	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)		TCTCACCTGCTGCTTATATCT	0.378													C	190126276	T	C	190126276	3	2	189	1	0	0	0	0	1	0	0	0	3477	1580	55	3	780	3	CLDN16	3	190126276	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	420904	190126276	7896154	1156	99013											
C3orf59	151963	broad.mit.edu	37	chr3	192517221	192517221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggctcagccaagagtggcAcaaggctgagtggcgcatgt	15	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:192517221A>G	uc011bsp.1	-	2	751	c.430T>C	c.(430-432)TGC>CGC	p.C144R		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	144											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		CAAGAGTGGCACAAGGCTGAG	0.512													G	192517221	A	G	192517221	3	3	189	1	0	0	0	0	1	0	0	0	2237	159	6	3	1049	3	C3orf59	3	192517221	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2390945	192517221	5505209	1157	99014											
ATP13A4	84239	broad.mit.edu	37	chr3	193183832	193183832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccactaagcacatagacAcacagagtatagatcatccc	5	14	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:193183832A>G	uc003ftd.2	-	11	1362	c.1254T>C	c.(1252-1254)TGT>TGC	p.C418C	ATP13A4_uc003fte.1_Silent_p.C418C|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Silent_p.C124C	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	418	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	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)		GCACATAGACACACAGAGTAT	0.438													G	193183832	A	G	193183832	2	3	189	1	0	0	0	0	0	0	0	1	1126	157	6	3		3	ATP13A4	3	193183832	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	666611	193183832	4838598	1158	99015											
LSG1	55341	broad.mit.edu	37	chr3	194373752	194373752	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgggattttcactaagTgaaggagaatccctagctgg	13	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:194373752T>C	uc003fui.2	-	8	1194	c.879A>G	c.(877-879)TCA>TCG	p.S293S		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	293					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	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)		TTTCACTAAGTGAAGGAGAAT	0.483													C	194373752	T	C	194373752	2	2	189	1	0	0	0	0	0	0	0	1	9049	1683	59	3		3	LSG1	3	194373752	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1189920	194373752	3648678	1159	99016											
LSG1	55341	broad.mit.edu	37	chr3	194387291	194387291	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaggcacaaacttaatAttaagtttctctgttcaaat	5	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:194387291A>G	uc003fui.2	-	3	552	c.237T>C	c.(235-237)AAT>AAC	p.N79N		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	79					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	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)		CAAACTTAATATTAAGTTTCT	0.353													G	194387291	A	G	194387291	2	3	189	1	0	0	0	0	0	0	0	1	9049	446	16	3		3	LSG1	3	194387291	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	13539	194387291	3635139	1160	99017											
ACAP2	23527	broad.mit.edu	37	chr3	195022799	195022799	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctggcattgccagggatAcactggacccgctgaagcgc	13	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:195022799A>G	uc003fun.3	-	14	1462	c.1221T>C	c.(1219-1221)TGT>TGC	p.C407C		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	407	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TGCCAGGGATACACTGGACCC	0.507													G	195022799	A	G	195022799	2	3	189	1	0	0	0	0	0	0	0	1	119	389	14	3		3	ACAP2	3	195022799	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	635508	195022799	2999631	1161	99018											
PCYT1A	5130	broad.mit.edu	37	chr3	195975110	195975110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgtattagggaaaaggTtcttcgcttgcatcagagct	12	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:195975110T>C	uc003fwg.2	-	5	475	c.302A>G	c.(301-303)AAC>AGC	p.N101S	PCYT1A_uc003fwh.2_Missense_Mutation_p.N101S	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	101	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)	AGGGAAAAGGTTCTTCGCTTG	0.433													C	195975110	T	C	195975110	3	2	189	1	0	0	0	0	1	0	0	0	11610	1725	60	3	825	3	PCYT1A	3	195975110	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	952311	195975110	2047320	1162	99019											
UBXN7	26043	broad.mit.edu	37	chr3	196089374	196089376	+	In_Frame_Del	DEL	TCT	TCT	-													acttggcaagattctctaccTcttcttcttcatcagagcca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:196089373_196089375CTCT>C	uc003fwm.4	-	8	1093_1095	c.1018_1020AGAG>G	c.(1018-1020)gag>G	p.E340del	UBXN7_uc003fwn.4_In_Frame_Del_p.E192del|UBXN7_uc010iae.3_In_Frame_Del_p.E178del	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	340	Poly-Glu.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GATTCTCTACCTCTTCTTCTTCA	0.458													-	196089376	TCT	-	196089374	7	5	189	1	0	1	0	1	0	0	0	0	16915	1551	54	0	462	0	UBXN7	3	196089374	In_Frame_Del	DEL	TCT	TCGA-CG-5721-01A-11D-1600-08	114264	196089374	1933056	1163	99020											
UBXN7	26043	broad.mit.edu	37	chr3	196098870	196098870	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgaacattttgaatgTttatcatcagccacttattt	5	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:196098870T>A	uc003fwm.3	-	6	587	c.512A>T	c.(511-513)AAC>ATC	p.N171I	UBXN7_uc003fwn.3_Missense_Mutation_p.N23I|UBXN7_uc010iae.2_Missense_Mutation_p.N9I	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7	171							protein binding			ovary(2)|pancreas(1)	3						ATTTTGAATGTTTATCATCAG	0.393													A	196098870	T	A	196098870	3	1	189	1	0	0	0	0	1	0	0	0	16915	1725	60	5	981	5	UBXN7	3	196098870	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9496	196098870	1923560	1164	99021											
PIGX	54965	broad.mit.edu	37	chr3	196460765	196460765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaatatggccattttTccctataagttttatgtagt	5	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:196460765T>C	uc010iaj.2	+	7	981	c.700T>C	c.(700-702)TCC>CCC	p.S234P	PIGX_uc003fwx.3_Missense_Mutation_p.S216P|PIGX_uc011btx.1_RNA	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	257	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	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)		TGGCCATTTTTCCCTATAAGT	0.333													C	196460765	T	C	196460765	3	2	189	1	0	0	0	0	1	0	0	0	11903	1783	62	3	849	3	PIGX	3	196460765	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	361895	196460765	1561665	1165	99022											
PAK2	5062	broad.mit.edu	37	chr3	196539109	196539109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctggtacagttttcActgctactgacgttgcactg	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:196539109A>G	uc003fwy.3	+	9	1115	c.793A>G	c.(793-795)ACT>GCT	p.T265A		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	265	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			ovary(1)|lung(1)	2	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)		TACAGTTTTCACTGCTACTGA	0.408													G	196539109	A	G	196539109	3	3	189	1	0	0	0	0	1	0	0	0	11401	159	6	3	823	3	PAK2	3	196539109	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	78344	196539109	1483321	1166	99023											
SENP5	205564	broad.mit.edu	37	chr3	196613083	196613083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttagtttagacgaagcatTccctgaccaacagaatggca	9	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:196613083T>C	uc003fwz.3	+	2	1280	c.1031T>C	c.(1030-1032)TTC>TCC	p.F344S	SENP5_uc011bty.1_Missense_Mutation_p.F344S	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	344					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	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)		GACGAAGCATTCCCTGACCAA	0.507													C	196613083	T	C	196613083	3	2	189	1	0	0	0	0	1	0	0	0	14049	1783	62	3	1033	3	SENP5	3	196613083	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	73974	196613083	1409347	1167	99024											
NCBP2	22916	broad.mit.edu	37	chr3	196666226	196666226	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcatagatttgttcttcAgttgtgtaaaaagaaagatt	8	3	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:196666226A>C	uc003fxd.1	-	2	246	c.156T>G	c.(154-156)ACT>ACG	p.T52T	NCBP2_uc003fxb.1_5'UTR|NCBP2_uc011btz.1_Silent_p.T34T|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Intron|NCBP2_uc003fxf.2_Silent_p.T52T	NM_007362	NP_031388	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	52	RRM.				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				0	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)		TTTGTTCTTCAGTTGTGTAAA	0.318													C	196666226	A	C	196666226	2	2	189	1	0	0	0	0	0	0	0	1	10212	175	7	5		5	NCBP2	3	196666226	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	53143	196666226	1356204	1168	99025											
MFI2	4241	broad.mit.edu	37	chr3	196743098	196743098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccttcatggcgtgcaggTactcatggcccagccacgcc	11	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:196743098T>C	uc003fxk.3	-	8	1156	c.1043A>G	c.(1042-1044)TAC>TGC	p.Y348C		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	348	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		GGCGTGCAGGTACTCATGGCC	0.602													C	196743098	T	C	196743098	3	2	189	1	0	0	0	0	1	0	0	0	9522	1638	57	3	1209	3	MFI2	3	196743098	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	76872	196743098	1279332	1169	99026											
KIAA0226	9711	broad.mit.edu	37	chr3	197420641	197420641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtcagagagctgtgcCgaatcacgtgagctgaactg	13	10	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:197420641C>T	uc003fyc.2	-	11	1914	c.1731G>A	c.(1729-1731)TCG>TCA	p.S577S	KIAA0226_uc003fyd.3_Silent_p.S532S|KIAA0226_uc003fye.1_Silent_p.S284S|KIAA0226_uc003fyf.2_3'UTR	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	577	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	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)		AGAGCTGTGCCGAATCACGTG	0.433													T	197420641	C	T	197420641	2	4	189	1	0	0	0	0	0	0	0	1	8162	639	23	1		1	KIAA0226	3	197420641	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	677543	197420641	601789	1170	99027											
KIAA0226	9711	broad.mit.edu	37	chr3	197430456	197430456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggaggcgggggttgTtctgttccactgcttccagg	16	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:197430456T>C	uc003fyc.2	-	5	716	c.533A>G	c.(532-534)AAC>AGC	p.N178S	KIAA0226_uc003fyd.3_Missense_Mutation_p.N118S|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.2_Missense_Mutation_p.N11S|KIAA0226_uc003fyg.2_Missense_Mutation_p.N171S	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	178	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	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)		GCGGGGGTTGTTCTGTTCCAC	0.567													C	197430456	T	C	197430456	3	2	189	1	0	0	0	0	1	0	0	0	8162	1725	60	3	2498	3	KIAA0226	3	197430456	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9815	197430456	591974	1171	99028											
LMLN	89782	broad.mit.edu	37	chr3	197701945	197701945	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaatcttgtaaaggTatgtaataaatactcataac	6	4	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr3:197701945T>C	uc011buo.1	+	3	370	c.348_splice	c.e3+2	p.K116_splice	LMLN_uc003fyt.2_Splice_Site_p.K64_splice|LMLN_uc010iar.2_Splice_Site_p.K116_splice|LMLN_uc010ias.2_Splice_Site_p.K64_splice|LMLN_uc003fyu.2_Splice_Site	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2						cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	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)		CTTGTAAAGGTATGTAATAAA	0.199													C	197701945	T	C	197701945	5	2	189	1	0	0	0	0	0	0	1	0	8847	1652	57	3	360	3	LMLN	3	197701945	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	271489	197701945	320485	1172	99029											
ZNF595	152687	broad.mit.edu	37	chr4	86073	86073	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatactggagagaaAccctacacatgtgaagaatg	9	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:86073A>G	uc003fzv.1	+	5	834	c.678A>G	c.(676-678)AAA>AAG	p.K226K	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	226					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		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)		CTGGAGAGAAACCCTACACAT	0.403													G	86073	A	G	86073	2	3	189	1	0	0	0	0	0	0	0	1	18022	40	2	3		3	ZNF595	4	86073	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08		86073	191068203	1173	99030											
ZNF721	170960	broad.mit.edu	37	chr4	436007	436007	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttacatttgtagagtttaTctccagtatgaattttctta	5	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:436007T>A	uc003gag.2	-	3	2940	c.2249A>T	c.(2248-2250)GAT>GTT	p.D750V	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.D782V|ZNF721_uc010ibe.2_Missense_Mutation_p.D738V	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	750						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GTAGAGTTTATCTCCAGTATG	0.378													A	436007	T	A	436007	3	1	189	1	0	0	0	0	1	0	0	0	18119	1435	50	5	526	5	ZNF721	4	436007	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	349934	436007	190718269	1174	99031											
GAK	2580	broad.mit.edu	37	chr4	870373	870373	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaccccgtgtggaactgaaTctggaacatcttcatggatg	10	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:870373T>A	uc003gbm.3	-	18	2198	c.1999A>T	c.(1999-2001)ATT>TTT	p.I667F	GAK_uc003gbn.3_Missense_Mutation_p.I588F|GAK_uc010ibk.1_Missense_Mutation_p.I561F|GAK_uc003gbl.3_Missense_Mutation_p.I531F	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	667	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		TGGAACTGAATCTGGAACATC	0.552													A	870373	T	A	870373	3	1	189	1	0	0	0	0	1	0	0	0	6195	1435	50	5	1980	5	GAK	4	870373	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	434366	870373	190283903	1175	99032											
CTBP1	1487	broad.mit.edu	37	chr4	1207327	1207327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgatggatgcctgctcGctgtaccatgcagcatgggg	13	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:1207327G>A	uc003gcv.1	-	7	1125	c.960C>T	c.(958-960)AGC>AGT	p.S320S	uc003gcs.1_Intron|CTBP1_uc003gct.1_Silent_p.S301S|CTBP1_uc003gcu.1_Silent_p.S309S|CTBP1_uc003gcw.2_5'UTR	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	320	Interaction with GLIS2 2 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ATGCCTGCTCGCTGTACCATG	0.652													A	1207327	G	A	1207327	2	1	189	1	0	0	0	0	0	0	0	1	3997	1078	38	1		1	CTBP1	4	1207327	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	336954	1207327	189946949	1176	99033											
SLBP	7884	broad.mit.edu	37	chr4	1701386	1701386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacactttcatctgtctcAaagtcagccggcacagtaga	9	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:1701386A>G	uc003gdi.1	-	5	499	c.384T>C	c.(382-384)TTT>TTC	p.F128F	SLBP_uc010ibx.1_Silent_p.F135F|SLBP_uc003gdj.1_Silent_p.F108F|SLBP_uc003gdk.1_Silent_p.F89F|SLBP_uc011bvf.1_Silent_p.F93F|SLBP_uc003gdl.1_Silent_p.F45F	NM_006527	NP_006518	Q14493	SLBP_HUMAN	stem-loop (histone) binding protein	128					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				0		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			CATCTGTCTCAAAGTCAGCCG	0.393													G	1701386	A	G	1701386	2	3	189	1	0	0	0	0	0	0	0	1	14372	127	5	3		3	SLBP	4	1701386	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	494059	1701386	189452890	1177	99034											
WHSC1	7468	broad.mit.edu	37	chr4	1978235	1978235	+	Frame_Shift_Del	DEL	A	A	-													tttcatcagaggaaaagggcAaaaagaccaagaagaaaacg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:1978235delA	uc003gdz.3	+	21	3831	c.3655delA	c.(3655-3657)AAAfs	p.K1219fs	WHSC1_uc003geb.3_Frame_Shift_Del_p.K1219fs|WHSC1_uc003gec.3_Frame_Shift_Del_p.K1219fs|WHSC1_uc003ged.3_Frame_Shift_Del_p.K1219fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Del_p.K438fs|WHSC1_uc011bvh.1_Frame_Shift_Del_p.K280fs|WHSC1_uc010icf.2_Frame_Shift_Del_p.K567fs	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1219					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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGAAAAGGGCAAAAAGACCAA	0.527			T	IGH@	MM								-	1978235	A	-	1978235	7	5	189	1	0	1	0	1	0	0	0	0	17359	131	5	0	3809	0	WHSC1	4	1978235	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	276849	1978235	189176041	1178	99035											
HAUS3	79441	broad.mit.edu	37	chr4	2233811	2233811	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttttgtcttcacaTcagcaagaatatcagtgagg	7	7	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:2233811T>A	uc003ges.1	-	5	1885	c.1655A>T	c.(1654-1656)GAT>GTT	p.D552V	POLN_uc003ger.2_5'Flank|POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Missense_Mutation_p.D552V	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	552					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						TGTCTTCACATCAGCAAGAAT	0.264													A	2233811	T	A	2233811	3	1	189	1	0	0	0	0	1	0	0	0	6967	1435	50	5	160	5	HAUS3	4	2233811	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	255576	2233811	188920465	1179	99036											
HTT	3064	broad.mit.edu	37	chr4	3109036	3109036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggtgaaccttctgccGtgcctgactcgaacaagcaa	9	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:3109036G>A	uc011bvq.1	+	7	784	c.639G>A	c.(637-639)CCG>CCA	p.P213P		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	211	HEAT 1.				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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTTCTGCCGTGCCTGACTC	0.473													A	3109036	G	A	3109036	2	1	189	1	0	0	0	0	0	0	0	1	7457	1132	40	1		1	HTT	4	3109036	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	875225	3109036	188045240	1180	99037											
HTT	3064	broad.mit.edu	37	chr4	3133117	3133117	+	Frame_Shift_Del	DEL	A	A	-													tcgtttttgctaacagggggAaaaaatggtgagtacaaaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:3133116_3133116GA>G	uc021xkv.1	+	14	2235	c.2090_2090GA>G	c.(2089-2091)ggafs	p.G697fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	697					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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)		CTAACAGGGGGAAAAAATGGT	0.478													-	3133117	A	-	3133117	7	5	189	1	0	1	0	1	0	0	0	0	7457	233	9	0	2149	0	HTT	4	3133117	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	24081	3133117	188021159	1181	99038											
HTT	3064	broad.mit.edu	37	chr4	3190708	3190708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactggttggtattcttttAgaagacattgttacaaaaca	7	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:3190708A>C	uc011bvq.1	+	41	5407	c.5262A>C	c.(5260-5262)TTA>TTC	p.L1754F		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1752					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTATTCTTTTAGAAGACATTG	0.383													C	3190708	A	C	3190708	3	2	189	1	0	0	0	0	1	0	0	0	7457	417	15	5	5414	5	HTT	4	3190708	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	57591	3190708	187963568	1182	99039											
HTT	3064	broad.mit.edu	37	chr4	3219639	3219639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatcatcagcctggcccGcctgccccttgtcaacagct	7	18	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:3219639G>A	uc011bvq.1	+	53	7353	c.7208G>A	c.(7207-7209)CGC>CAC	p.R2403H		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2401	Nuclear export signal (By similarity).				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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCTGGCCCGCCTGCCCCTT	0.582													A	3219639	G	A	3219639	3	1	189	1	0	0	0	0	1	0	0	0	7457	1087	38	1	7408	1	HTT	4	3219639	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	28931	3219639	187934637	1183	99040											
RGS12	6002	broad.mit.edu	37	chr4	3319065	3319065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttcatctctgtcctgTaccgagacatgggtgagctg	12	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:3319065T>C	uc003ggw.2	+	2	2072	c.1168T>C	c.(1168-1170)TAC>CAC	p.Y390H	RGS12_uc003ggu.2_Missense_Mutation_p.Y390H|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.Y390H|RGS12_uc003ggx.1_Missense_Mutation_p.Y390H	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	390						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCTGTCCTGTACCGAGACAT	0.622													C	3319065	T	C	3319065	3	2	189	1	0	0	0	0	1	0	0	0	13295	1638	57	3	1170	3	RGS12	4	3319065	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	99426	3319065	187835211	1184	99041											
STK32B	55351	broad.mit.edu	37	chr4	5461855	5461855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaaggatcctgagagccGcgtgtccagccttcatgaca	11	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:5461855G>A	uc003gih.1	+	9	873	c.809G>A	c.(808-810)CGC>CAC	p.R270H	STK32B_uc010ida.1_Missense_Mutation_p.R223H	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	270	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CCTGAGAGCCGCGTGTCCAGC	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	5461855	G	A	5461855	3	1	189	1	0	0	0	0	1	0	0	0	15297	1087	38	1	843	1	STK32B	4	5461855	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2142790	5461855	185692421	1185	99042											
C4orf6	10141	broad.mit.edu	37	chr4	5527092	5527092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaattcacaagactcacaAttcaaagaaccaatttttta	3	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:5527092A>G	uc003gii.2	+	1	210	c.35A>G	c.(34-36)AAT>AGT	p.N12S		NM_005750	NP_005741	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	12					nervous system development						0						aagactcacaattcaaagaac	0.04													G	5527092	A	G	5527092	3	3	189	1	0	0	0	0	1	0	0	0	2278	101	4	3	37	3	C4orf6	4	5527092	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	65237	5527092	185627184	1186	99043											
EVC2	132884	broad.mit.edu	37	chr4	5578085	5578085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatcccgggcccatcggCcacccactgctgccagctcg	10	19	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:5578085C>T	uc003gij.2	-	18	3208	c.3154G>A	c.(3154-3156)GCC>ACC	p.A1052T	EVC2_uc011bwb.1_Missense_Mutation_p.A492T|EVC2_uc003gik.2_Missense_Mutation_p.A972T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1052	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GGCCCATCGGCCACCCACTGC	0.622													T	5578085	C	T	5578085	3	4	189	1	0	0	0	0	1	0	0	0	5286	739	26	2	792	2	EVC2	4	5578085	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	50993	5578085	185576191	1187	99044											
EVC	2121	broad.mit.edu	37	chr4	5731079	5731079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcacagcattcgccctgAaggccaaagtcatctacccc	6	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:5731079A>G	uc003gil.1	+	3	530	c.346A>G	c.(346-348)AAG>GAG	p.K116E	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	116					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				ATTCGCCCTGAAGGCCAAAGT	0.488													G	5731079	A	G	5731079	3	3	189	1	0	0	0	0	1	0	0	0	5285	247	9	3	356	3	EVC	4	5731079	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	152994	5731079	185423197	1188	99045											
EVC	2121	broad.mit.edu	37	chr4	5806486	5806486	+	Frame_Shift_Del	DEL	A	A	-													tggaaaattacaaactgcggAaaaagcaagaactcagcaac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:5806485_5806485GA>G	uc003gil.1	+	16	2662	c.2478_2478GA>G	c.(2476-2478)cggfs	p.R826fs	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	826					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)				ACAAACTGCGGAAAAAGCAAG	0.562													-	5806486	A	-	5806486	7	5	189	1	0	1	0	1	0	0	0	0	5285	247	9	0	2545	0	EVC	4	5806486	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	75407	5806486	185347790	1189	99046											
CRMP1	1400	broad.mit.edu	37	chr4	5857879	5857879	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaactgacctttgtcctGcaccagcacctccagctcct	5	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:5857879G>A	uc003gip.2	-	5	570	c.469C>T	c.(469-471)CAG>TAG	p.Q157*	CRMP1_uc003gin.1_Nonsense_Mutation_p.Q69*|CRMP1_uc003giq.2_Nonsense_Mutation_p.Q157*|CRMP1_uc003gir.2_Nonsense_Mutation_p.Q152*|CRMP1_uc003gis.2_Nonsense_Mutation_p.Q271*	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	157					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCTTTGTCCTGCACCAGCACC	0.527													A	5857879	G	A	5857879	4	1	189	1	0	0	0	0	0	1	0	0	3890	1328	46	2	1293	2	CRMP1	4	5857879	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	51393	5857879	185296397	1190	99047											
MAN2B2	23324	broad.mit.edu	37	chr4	6610923	6610923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccccatttccgataactAcctgttcacaccgggcaagg	10	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:6610923A>G	uc003gjf.1	+	12	1940	c.1904A>G	c.(1903-1905)TAC>TGC	p.Y635C	MAN2B2_uc003gje.1_Missense_Mutation_p.Y635C|MAN2B2_uc011bwf.1_Missense_Mutation_p.Y584C	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	635					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TCCGATAACTACCTGTTCACA	0.577													G	6610923	A	G	6610923	3	3	189	1	0	0	0	0	1	0	0	0	9217	391	14	3	1950	3	MAN2B2	4	6610923	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	753044	6610923	184543353	1191	99048											
CCDC96	257236	broad.mit.edu	37	chr4	7043037	7043037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcctccctgatcttctgCctcacgcctctgcaggacaa	8	16	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:7043037C>T	uc003gjv.2	-	1	1692	c.1629G>A	c.(1627-1629)AGG>AGA	p.R543R	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	543											0						TGATCTTCTGCCTCACGCCTC	0.537													T	7043037	C	T	7043037	2	4	189	1	0	0	0	0	0	0	0	1	2874	738	26	2		2	CCDC96	4	7043037	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	432114	7043037	184111239	1192	99049											
GRPEL1	80273	broad.mit.edu	37	chr4	7062879	7062879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttggaacacactgtgTtgccttctccagaacgtctg	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:7062879T>C	uc003gjy.1	-	4	405	c.364A>G	c.(364-366)ACA>GCA	p.T122A	GRPEL1_uc003gjz.1_3'UTR	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial precursor	122					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding				0						ACACACTGTGTTGCCTTCTCC	0.468													C	7062879	T	C	7062879	3	2	189	1	0	0	0	0	1	0	0	0	6806	1725	60	3	293	3	GRPEL1	4	7062879	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	19842	7062879	184091397	1193	99050											
AFAP1	60312	broad.mit.edu	37	chr4	7795427	7795427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggtctgtttggctgTctgaatgacacttgcagaca	11	9	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:7795427T>C	uc003gkg.1	-	11	1666	c.1393A>G	c.(1393-1395)ACA>GCA	p.T465A	AFAP1_uc011bwk.1_Missense_Mutation_p.T465A	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	465				T -> A (in Ref. 2; BAF83496).		actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TGTTTGGCTGTCTGAATGACA	0.468													C	7795427	T	C	7795427	3	2	189	1	0	0	0	0	1	0	0	0	353	1667	58	3	1083	3	AFAP1	4	7795427	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	732548	7795427	183358849	1194	99051											
SH3TC1	54436	broad.mit.edu	37	chr4	8229571	8229571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctactcctggctgacatctAcagccgcaagtgcctgcccc	8	18	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:8229571A>G	uc003gkv.3	+	12	2251	c.2150A>G	c.(2149-2151)TAC>TGC	p.Y717C	SH3TC1_uc003gkw.3_Missense_Mutation_p.Y641C|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	717							binding			large_intestine(2)|pancreas(1)	3						GCTGACATCTACAGCCGCAAG	0.652													G	8229571	A	G	8229571	3	3	189	1	0	0	0	0	1	0	0	0	14261	391	14	3	2192	3	SH3TC1	4	8229571	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	434144	8229571	182924705	1195	99052											
SLC2A9	56606	broad.mit.edu	37	chr4	9836555	9836555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttggagagccagttgaCggtgcctgcaatgatgaagg	15	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:9836555C>T	uc003gmc.2	-	11	1430	c.1369G>A	c.(1369-1371)GTC>ATC	p.V457I	SLC2A9_uc003gmd.2_Missense_Mutation_p.V428I	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	457	Helical; Name=11; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						AGCCAGTTGACGGTGCCTGCA	0.532													T	9836555	C	T	9836555	3	4	189	1	0	0	0	0	1	0	0	0	14552	536	19	1	261	1	SLC2A9	4	9836555	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1606984	9836555	181317721	1196	99053											
ZNF518B	85460	broad.mit.edu	37	chr4	10445841	10445841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttcttgaataccttcAgaggtagcttttgaagttcc	8	7	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:10445841A>G	uc003gmn.2	-	3	2599	c.2112T>C	c.(2110-2112)TCT>TCC	p.S704S		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	704					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						GAATACCTTCAGAGGTAGCTT	0.458													G	10445841	A	G	10445841	2	3	189	1	0	0	0	0	0	0	0	1	17960	175	7	3		3	ZNF518B	4	10445841	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	609286	10445841	180708435	1197	99054											
ZNF518B	85460	broad.mit.edu	37	chr4	10446888	10446888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaacaagctgctgtgtAccattgacaaccttcacatc	6	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:10446888A>G	uc003gmn.2	-	3	1552	c.1065T>C	c.(1063-1065)GGT>GGC	p.G355G		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						GCTGCTGTGTACCATTGACAA	0.448													G	10446888	A	G	10446888	2	3	189	1	0	0	0	0	0	0	0	1	17960	378	14	3		3	ZNF518B	4	10446888	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1047	10446888	180707388	1198	99055											
BOD1L	259282	broad.mit.edu	37	chr4	13571645	13571645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcaggattatcgcttcGcttttttcacaggggcttcc	11	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:13571645G>A	uc003gmz.1	-	26	9263	c.9146C>T	c.(9145-9147)GCG>GTG	p.A3049V		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	3049							DNA binding			ovary(5)|breast(1)	6						TTATCGCTTCGCTTTTTTCAC	0.552													A	13571645	G	A	13571645	3	1	189	1	0	0	0	0	1	0	0	0	1483	1087	38	1	13	1	BOD1L	4	13571645	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3124757	13571645	177582631	1199	99056											
BOD1L	259282	broad.mit.edu	37	chr4	13601895	13601895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacattcatccttctcctccTtgctggttgaggcaagagga	9	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:13601895T>A	uc003gmz.1	-	10	6746	c.6629A>T	c.(6628-6630)AAG>ATG	p.K2210M	BOD1L_uc010idr.1_Missense_Mutation_p.K1547M	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2210							DNA binding			ovary(5)|breast(1)	6						CTTCTCCTCCTTGCTGGTTGA	0.512													A	13601895	T	A	13601895	3	1	189	1	0	0	0	0	1	0	0	0	1483	1609	56	5	2594	5	BOD1L	4	13601895	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	30250	13601895	177552381	1200	99057											
BOD1L	259282	broad.mit.edu	37	chr4	13602539	13602539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggaaatagtggtatcTtcaactttttcgagctgact	9	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:13602539T>C	uc003gmz.1	-	10	6102	c.5985A>G	c.(5983-5985)GAA>GAG	p.E1995E	BOD1L_uc010idr.1_Silent_p.E1332E	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1995							DNA binding			ovary(5)|breast(1)	6						TAGTGGTATCTTCAACTTTTT	0.468													C	13602539	T	C	13602539	2	2	189	1	0	0	0	0	0	0	0	1	1483	1606	56	3		3	BOD1L	4	13602539	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	644	13602539	177551737	1201	99058											
CC2D2A	57545	broad.mit.edu	37	chr4	15511838	15511838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaagttccatgattctgCacgaaaaatcaagcctaaac	6	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:15511838C>T	uc010idv.2	+	8	760	c.515C>T	c.(514-516)GCA>GTA	p.A172V	CC2D2A_uc003gnx.2_Missense_Mutation_p.A123V|CC2D2A_uc003gnu.2_Missense_Mutation_p.A172V|CC2D2A_uc003gnv.2_Missense_Mutation_p.A172V	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	172					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						CATGATTCTGCACGAAAAATC	0.348													T	15511838	C	T	15511838	3	4	189	1	0	0	0	0	1	0	0	0	2728	710	25	2	740	2	CC2D2A	4	15511838	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1909299	15511838	175642438	1202	99059											
CD38	952	broad.mit.edu	37	chr4	15780076	15780076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccggtgtccggggacaaAccctgctgccggctctctag	13	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:15780076A>G	uc011bxc.1	+	1	146	c.39A>G	c.(37-39)AAA>AAG	p.K13K	CD38_uc003goj.1_Silent_p.K13K|CD38_uc003gol.1_Silent_p.K13K	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	13	Cytoplasmic (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						CCGGGGACAAACCCTGCTGCC	0.652													G	15780076	A	G	15780076	2	3	189	1	0	0	0	0	0	0	0	1	3009	40	2	3		3	CD38	4	15780076	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	268238	15780076	175374200	1203	99060											
TAPT1	202018	broad.mit.edu	37	chr4	16215413	16215413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccaattctcttggtattCgcaaacaagtgtatactctt	5	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:16215413C>T	uc010ied.1	-	2	389	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	TAPT1_uc011bxe.1_Intron|TAPT1_uc003gow.3_Intron	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	103						integral to membrane	growth hormone-releasing hormone receptor activity				0						TCTTGGTATTCGCAAACAAGT	0.338													T	16215413	C	T	16215413	3	4	189	1	0	0	0	0	1	0	0	0	15551	884	31	1	1447	1	TAPT1	4	16215413	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	435337	16215413	174938863	1204	99061											
GPR125	166647	broad.mit.edu	37	chr4	22425958	22425958	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatgttacttgcaatgtcAaccatcacgtcacctagcta	6	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:22425958A>G	uc003gqm.1	-	11	1726	c.1461T>C	c.(1459-1461)GTT>GTC	p.V487V	GPR125_uc010ieo.1_Silent_p.V361V|GPR125_uc003gqn.1_Silent_p.V261V|GPR125_uc003gqo.2_Silent_p.V487V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	487	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TTGCAATGTCAACCATCACGT	0.453													G	22425958	A	G	22425958	2	3	189	1	0	0	0	0	0	0	0	1	6639	117	5	3		3	GPR125	4	22425958	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6210545	22425958	168728318	1205	99062											
GPR125	166647	broad.mit.edu	37	chr4	22449096	22449096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acgcaagataatcaaaagttCcttgagataatgaagaaaac	7	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:22449096C>A	uc003gqm.1	-	5	777	c.512G>T	c.(511-513)GGA>GTA	p.G171V	GPR125_uc010ieo.1_Missense_Mutation_p.G45V|GPR125_uc003gqo.2_Missense_Mutation_p.G171V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	171	Extracellular (Potential).|LRR 4.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				ATCAAAAGTTCCTTGAGATAA	0.254													A	22449096	C	A	22449096	3	1	189	1	0	0	0	0	1	0	0	0	6639	855	30	5	3513	5	GPR125	4	22449096	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23138	22449096	168705180	1206	99063											
GBA3	57733	broad.mit.edu	37	chr4	22750561	22750561	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggagtatttcagacaAacatttcaggaactgttcaa	9	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:22750561A>G	uc003gqp.3	+	4	1276	c.1185A>G	c.(1183-1185)CAA>CAG	p.Q395Q	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Silent_p.Q396Q	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	395					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						ATTTCAGACAAACATTTCAGG	0.373													G	22750561	A	G	22750561	2	3	189	1	0	0	0	0	0	0	0	1	6268	11	1	3		3	GBA3	4	22750561	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	301465	22750561	168403715	1207	99064											
CCDC149	91050	broad.mit.edu	37	chr4	24875302	24875302	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcagaaataagtcttaCctgtttccttttttcaggag	8	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:24875302C>T	uc011bxr.1	-	4	408	c.264_splice	c.e4+1	p.Q88_splice	CCDC149_uc003grc.2_Splice_Site_p.Q88_splice|CCDC149_uc003grb.2_Splice_Site|CCDC149_uc003grd.2_Splice_Site_p.Q88_splice|CCDC149_uc003gre.2_Splice_Site_p.Q33_splice	NM_173463	NP_775734	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149 isoform 1												0		Breast(46;0.173)				ATAAGTCTTACCTGTTTCCTT	0.348													T	24875302	C	T	24875302	5	4	189	1	0	0	0	0	0	0	1	0	2783	521	18	4	1368	4	CCDC149	4	24875302	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2124741	24875302	166278974	1208	99065											
SLC34A2	10568	broad.mit.edu	37	chr4	25671295	25671295	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagccactgtccatgActtcttcaactggctgtccg	10	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:25671295A>T	uc003grr.2	+	7	743	c.662A>T	c.(661-663)GAC>GTC	p.D221V	SLC34A2_uc003grs.2_Missense_Mutation_p.D220V|SLC34A2_uc010iev.2_Missense_Mutation_p.D220V	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	221	Helical; Name=M3; (Potential).				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			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				ACTGTCCATGACTTCTTCAAC	0.537													T	25671295	A	T	25671295	3	4	189	1	0	0	0	0	1	0	0	0	14568	275	10	5	684	5	SLC34A2	4	25671295	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	795993	25671295	165482981	1209	99066											
SLC34A2	10568	broad.mit.edu	37	chr4	25677873	25677873	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacatctctgccaagtaTcgctggttcgccgtcttcta	9	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:25677873T>A	uc003grr.2	+	13	1656	c.1575T>A	c.(1573-1575)TAT>TAA	p.Y525*	SLC34A2_uc003grs.2_Nonsense_Mutation_p.Y524*|SLC34A2_uc010iev.2_Nonsense_Mutation_p.Y524*	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	525	Cytoplasmic (Potential).				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			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CTGCCAAGTATCGCTGGTTCG	0.592													A	25677873	T	A	25677873	4	1	189	1	0	0	0	0	0	1	0	0	14568	1442	50	5	1621	5	SLC34A2	4	25677873	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6578	25677873	165476403	1210	99067											
SEL1L3	23231	broad.mit.edu	37	chr4	25806334	25806334	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagccttctcaaatatcttCccaccgatttctgatacaga	4	13	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:25806334C>T	uc003gru.3	-	10	1757	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	SEL1L3_uc003grv.2_5'UTR	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	535						integral to membrane	binding				0						CAAATATCTTCCCACCGATTT	0.418													T	25806334	C	T	25806334	2	4	189	1	0	0	0	0	0	0	0	1	14012	842	30	4		4	SEL1L3	4	25806334	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	128461	25806334	165347942	1211	99068											
PCDH7	5099	broad.mit.edu	37	chr4	30725028	30725028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagccctgtggggatggtcAccgtgatggatgctgacaag	15	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:30725028A>G	uc003gsk.1	+	1	2992	c.1984A>G	c.(1984-1986)ACC>GCC	p.T662A	PCDH7_uc011bxw.1_Missense_Mutation_p.T615A|PCDH7_uc011bxx.1_Missense_Mutation_p.T662A	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	662	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GGGGATGGTCACCGTGATGGA	0.448													G	30725028	A	G	30725028	3	3	189	1	0	0	0	0	1	0	0	0	11516	159	6	3	1986	3	PCDH7	4	30725028	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4918694	30725028	160429248	1212	99069											
TBC1D1	23216	broad.mit.edu	37	chr4	38023271	38023271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtgcagcagacagctaAggcgccagcccagctgtgtg	14	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:38023271A>G	uc003gtb.2	+	6	1485	c.1142A>G	c.(1141-1143)AAG>AGG	p.K381R	TBC1D1_uc011byd.1_Missense_Mutation_p.K381R|TBC1D1_uc010ifd.2_Missense_Mutation_p.K128R|TBC1D1_uc011byf.1_Missense_Mutation_p.K252R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	381	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						CAGACAGCTAAGGCGCCAGCC	0.527													G	38023271	A	G	38023271	3	3	189	1	0	0	0	0	1	0	0	0	15594	72	3	3	1160	3	TBC1D1	4	38023271	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7298243	38023271	153131005	1213	99070											
KLB	152831	broad.mit.edu	37	chr4	39409016	39409016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttataggagtttctttttaTcaattttcaatttcctggcc	5	7	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:39409016T>C	uc003gua.2	+	1	544	c.447T>C	c.(445-447)TAT>TAC	p.Y149Y	KLB_uc011byj.1_Silent_p.Y149Y	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	149	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						TTTCTTTTTATCAATTTTCAA	0.408													C	39409016	T	C	39409016	2	2	189	1	0	0	0	0	0	0	0	1	8332	1442	50	3		3	KLB	4	39409016	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1385745	39409016	151745260	1214	99071											
UBE2K	3093	broad.mit.edu	37	chr4	39779998	39779998	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcagtaatagtggccTtgtcttcaaaatcatgggat	10	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:39779998T>G	uc003guu.3	+	7	831	c.547T>G	c.(547-549)TTG>GTG	p.L183V	UBE2K_uc003gus.3_Missense_Mutation_p.L140V|UBE2K_uc003gut.3_Missense_Mutation_p.L132V|UBE2K_uc010ifn.2_RNA|UBE2K_uc011byq.1_Missense_Mutation_p.L122V|UBE2K_uc003guq.3_Missense_Mutation_p.L80V	NM_005339	NP_005330	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K isoform 1	183	UBA.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						AATAGTGGCCTTGTCTTCAAA	0.393													G	39779998	T	G	39779998	3	3	189	1	0	0	0	0	1	0	0	0	16859	1606	56	5	573	5	UBE2K	4	39779998	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	370982	39779998	151374278	1215	99072											
N4BP2	55728	broad.mit.edu	37	chr4	40122482	40122482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaattggaacaaatgacaaAatgaatgaaatatccttatc	6	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:40122482A>G	uc003guy.3	+	9	3089	c.2751A>G	c.(2749-2751)AAA>AAG	p.K917K	N4BP2_uc010ifq.2_Silent_p.K837K|N4BP2_uc010ifr.2_Silent_p.K837K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	917						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CAAATGACAAAATGAATGAAA	0.413													G	40122482	A	G	40122482	2	3	189	1	0	0	0	0	0	0	0	1	10110	11	1	3		3	N4BP2	4	40122482	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	342484	40122482	151031794	1216	99073											
CHRNA9	55584	broad.mit.edu	37	chr4	40356386	40356386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgacgaggaatattgagtAcatcgccaagtgcctcaaag	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:40356386A>G	uc003gva.1	+	5	1305	c.1289A>G	c.(1288-1290)TAC>TGC	p.Y430C		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	430	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	AATATTGAGTACATCGCCAAG	0.488													G	40356386	A	G	40356386	3	3	189	1	0	0	0	0	1	0	0	0	3389	391	14	3	1307	3	CHRNA9	4	40356386	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	233904	40356386	150797890	1217	99074											
BEND4	389206	broad.mit.edu	37	chr4	42119623	42119623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcataaaatgagccaccgTtgtgcaggaaagtccccacc	8	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:42119623T>C	uc003gwn.2	-	6	2097	c.1517A>G	c.(1516-1518)AAC>AGC	p.N506S	BEND4_uc003gwm.2_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	506											0						TGAGCCACCGTTGTGCAGGAA	0.537													C	42119623	T	C	42119623	3	2	189	1	0	0	0	0	1	0	0	0	1400	1725	60	3	91	3	BEND4	4	42119623	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1763237	42119623	149034653	1218	99075											
GRXCR1	389207	broad.mit.edu	37	chr4	42895333	42895333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacaggccacggaaagtccGgtttcggatcgcgtcctctc	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:42895333G>T	uc003gwt.2	+	1	50	c.50G>T	c.(49-51)CGG>CTG	p.R17L		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	17					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			ovary(1)	1						CGGAAAGTCCGGTTTCGGATC	0.507													T	42895333	G	T	42895333	3	4	189	1	0	0	0	0	1	0	0	0	6812	1116	39	5	52	5	GRXCR1	4	42895333	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	775710	42895333	148258943	1219	99076											
YIPF7	285525	broad.mit.edu	37	chr4	44638028	44638028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgctggctgaaaaaattgtCctgcgtaacccgatgacatg	10	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:44638028C>T	uc010ifx.1	-	3	280	c.263G>A	c.(262-264)GGA>GAA	p.G88E	YIPF7_uc010ify.1_Missense_Mutation_p.G88E	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	88						endoplasmic reticulum membrane|integral to membrane					0						AAAAAATTGTCCTGCGTAACC	0.408													T	44638028	C	T	44638028	3	4	189	1	0	0	0	0	1	0	0	0	17480	855	30	4	595	4	YIPF7	4	44638028	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1742695	44638028	146516248	1220	99077											
NIPAL1	152519	broad.mit.edu	37	chr4	48036924	48036924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatcttcctactttttaaAcgagcacttgaacattcatg	4	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:48036924A>G	uc003gxw.2	+	5	554	c.488A>G	c.(487-489)AAC>AGC	p.N163S		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	163	Cytoplasmic (Potential).					integral to membrane					0						TACTTTTTAAACGAGCACTTG	0.383													G	48036924	A	G	48036924	3	3	189	1	0	0	0	0	1	0	0	0	10424	43	2	3	506	3	NIPAL1	4	48036924	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3398896	48036924	143117352	1221	99078											
TEC	7006	broad.mit.edu	37	chr4	48173385	48173385	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatatttcattgagttttacCttcttttaacttcttcaccc	2	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:48173385C>A	uc003gxz.2	-	4	416	c.325G>T	c.(325-327)GAA>TAA	p.E109*		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	109	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						TGAGTTTTACCTTCTTTTAAC	0.303													A	48173385	C	A	48173385	4	1	189	1	0	0	0	0	0	1	0	0	15739	695	24	5	1630	5	TEC	4	48173385	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	136461	48173385	142980891	1222	99079											
SLAIN2	57606	broad.mit.edu	37	chr4	48384711	48384711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagatgatgaagatgacaAtatgcatcatgcagtatacc	8	6	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:48384711A>G	uc003gya.3	+	5	1133	c.989A>G	c.(988-990)AAT>AGT	p.N330S	SLAIN2_uc003gyb.1_5'UTR	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	330						centrosome					0						GAAGATGACAATATGCATCAT	0.453													G	48384711	A	G	48384711	3	3	189	1	0	0	0	0	1	0	0	0	14366	101	4	3	1007	3	SLAIN2	4	48384711	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	211326	48384711	142769565	1223	99080											
FRYL	285527	broad.mit.edu	37	chr4	48530056	48530056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcattagcttttctcttgTtcttcgctaaaggaaaaaaa	5	7	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:48530056T>C	uc003gyh.1	-	52	7677	c.7072A>G	c.(7072-7074)ACA>GCA	p.T2358A	FRYL_uc003gyg.1_Missense_Mutation_p.T1054A|FRYL_uc003gyi.1_Missense_Mutation_p.T1246A|FRYL_uc003gyj.1_Missense_Mutation_p.T653A	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2358					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTTTCTCTTGTTCTTCGCTAA	0.358													C	48530056	T	C	48530056	3	2	189	1	0	0	0	0	1	0	0	0	6064	1725	60	3	2021	3	FRYL	4	48530056	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	145345	48530056	142624220	1224	99081											
FRYL	285527	broad.mit.edu	37	chr4	48563635	48563635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttgtgagcatagcgaaAcatcttcggttccagaatct	8	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:48563635A>G	uc003gyh.1	-	33	4320	c.3715T>C	c.(3715-3717)TTT>CTT	p.F1239L	FRYL_uc003gyk.2_Missense_Mutation_p.F1239L|FRYL_uc003gyi.1_Missense_Mutation_p.F128L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1239					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCATAGCGAAACATCTTCGGT	0.348													G	48563635	A	G	48563635	3	3	189	1	0	0	0	0	1	0	0	0	6064	43	2	3	5454	3	FRYL	4	48563635	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	33579	48563635	142590641	1225	99082											
CWH43	80157	broad.mit.edu	37	chr4	48990684	48990684	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaggataatcactatTggtaagatttaaaagagttt	9	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:48990684T>C	uc003gyv.2	+	2	416	c.234T>C	c.(232-234)ATT>ATC	p.I78I	CWH43_uc011bzl.1_Silent_p.I51I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	78					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						TAATCACTATTGGTAAGATTT	0.279													C	48990684	T	C	48990684	2	2	189	1	0	0	0	0	0	0	0	1	4073	1826	63	3		3	CWH43	4	48990684	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	427049	48990684	142163592	1226	99083											
CWH43	80157	broad.mit.edu	37	chr4	49046852	49046852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgaatacattatgtatcGagggctgatcaggtgagcac	13	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:49046852G>A	uc003gyv.2	+	14	2035	c.1853G>A	c.(1852-1854)CGA>CAA	p.R618Q	CWH43_uc011bzl.1_Missense_Mutation_p.R591Q	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	618	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ATTATGTATCGAGGGCTGATC	0.368													A	49046852	G	A	49046852	3	1	189	1	0	0	0	0	1	0	0	0	4073	1058	37	1	1907	1	CWH43	4	49046852	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	56168	49046852	142107424	1227	99084											
USP46	64854	broad.mit.edu	37	chr4	53468063	53468063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaccaagtcatacatgcGgtccaggttcactgcatcac	8	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:53468063G>A	uc003gzn.2	-	7	1065	c.880C>T	c.(880-882)CGC>TGC	p.R294C	USP46_uc003gzm.3_Missense_Mutation_p.R287C|USP46_uc011bzr.1_Missense_Mutation_p.R271C|USP46_uc011bzs.1_Missense_Mutation_p.R178C	NM_022832	NP_073743	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46 isoform 1	294					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0295)			TCATACATGCGGTCCAGGTTC	0.537													A	53468063	G	A	53468063	3	1	189	1	0	0	0	0	1	0	0	0	17074	1116	39	1	232	1	USP46	4	53468063	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4421211	53468063	137686213	1228	99085											
SCFD2	152579	broad.mit.edu	37	chr4	54231560	54231560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgctattaaggaggtgcacAtcctggggtagcagtgggaa	16	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:54231560A>G	uc003gzu.2	-	1	683	c.549T>C	c.(547-549)GAT>GAC	p.D183D	SCFD2_uc010igm.2_Silent_p.D183D	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	183					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAGGTGCACATCCTGGGGTA	0.577													G	54231560	A	G	54231560	2	3	189	1	0	0	0	0	0	0	0	1	13890	214	8	3		3	SCFD2	4	54231560	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	763497	54231560	136922716	1229	99086											
PDGFRA	5156	broad.mit.edu	37	chr4	54245411	54245411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaaaatgaagttgaaagGccagaagaagaaaatgccag	12	4	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:54245411G>A	uc003haa.2	+	3	336	c.150G>A	c.(148-150)AGG>AGA	p.R50R	FIP1L1_uc003gzx.3_Silent_p.R35R|FIP1L1_uc011bzt.1_Silent_p.R50R|FIP1L1_uc003gzy.2_Silent_p.R50R|FIP1L1_uc011bzu.1_Silent_p.R35R|FIP1L1_uc003gzz.2_Silent_p.R35R|FIP1L1_uc003hab.2_Silent_p.R38R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:Variant_position_missing_in_P16234_after_alignment					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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	AAGTTGAAAGGCCAGAAGAAG	0.269			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	54245411	G	A	54245411	2	1	189	1	0	0	0	0	0	0	0	1	11661	1194	42	2		2	PDGFRA	4	54245411	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	13851	54245411	136908865	1230	99087											
SRD5A3	79644	broad.mit.edu	37	chr4	56236243	56236243	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcataggaaagctttcctAccatttttgttttaagttaa	6	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:56236243A>G	uc003hau.2	+	5	1037	c.942A>G	c.(940-942)CTA>CTG	p.L314L	uc003hav.1_Intron|uc003haw.1_Intron	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	314	Cytoplasmic (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			AAGCTTTCCTACCATTTTTGT	0.413													G	56236243	A	G	56236243	2	3	189	1	0	0	0	0	0	0	0	1	15139	378	14	3		3	SRD5A3	4	56236243	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1990832	56236243	134918033	1231	99088											
EXOC1	55763	broad.mit.edu	37	chr4	56763012	56763012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcaaaaatgctgagcgtCgtggagacctggataaagca	11	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:56763012C>T	uc003hbe.1	+	16	2241	c.2083C>T	c.(2083-2085)CGT>TGT	p.R695C	EXOC1_uc003hbf.1_Missense_Mutation_p.R695C|EXOC1_uc003hbg.1_Missense_Mutation_p.R680C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	695					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAGCGTCGTGGAGACCT	0.333													T	56763012	C	T	56763012	3	4	189	1	0	0	0	0	1	0	0	0	5301	884	31	1	2141	1	EXOC1	4	56763012	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	526769	56763012	134391264	1232	99089											
CEP135	9662	broad.mit.edu	37	chr4	56841097	56841097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctctacaagttatagcGcacgtgaaaaaagttcaata	7	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:56841097G>A	uc003hbi.2	+	11	1669	c.1435G>A	c.(1435-1437)GCA>ACA	p.A479T	CEP135_uc003hbj.2_Missense_Mutation_p.A185T	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	479	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					AAGTTATAGCGCACGTGAAAA	0.323													A	56841097	G	A	56841097	3	1	189	1	0	0	0	0	1	0	0	0	3247	1087	38	1	1473	1	CEP135	4	56841097	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	78085	56841097	134313179	1233	99090											
AASDH	132949	broad.mit.edu	37	chr4	57220334	57220334	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcattgtgccaagtggTactgtcacttcatcatcaag	9	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:57220334T>C	uc003hbn.2	-	8	1407	c.1254A>G	c.(1252-1254)GTA>GTG	p.V418V	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.V265V|AASDH_uc003hbo.2_Silent_p.V318V|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.V418V|AASDH_uc003hbp.2_Silent_p.V418V	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	418					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGCCAAGTGGTACTGTCACTT	0.393													C	57220334	T	C	57220334	2	2	189	1	0	0	0	0	0	0	0	1	22	1625	57	3		3	AASDH	4	57220334	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	379237	57220334	133933942	1234	99091											
REST	5978	broad.mit.edu	37	chr4	57777024	57777024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgaagaaagacagatgGcagaactgatgccggttggg	16	6	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:57777024G>A	uc003hch.2	+	2	567	c.220G>A	c.(220-222)GCA>ACA	p.A74T	REST_uc003hci.2_Missense_Mutation_p.A74T|REST_uc003hcj.1_Missense_Mutation_p.A74T|REST_uc010ihf.2_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	74	Interaction with SIN3A.				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			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					AAGACAGATGGCAGAACTGAT	0.473													A	57777024	G	A	57777024	3	1	189	1	0	0	0	0	1	0	0	0	13234	1203	42	2	222	2	REST	4	57777024	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	556690	57777024	133377252	1235	99092											
REST	5978	broad.mit.edu	37	chr4	57777250	57777250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacacctggagcggaggAcaaaggcaagagctcgaaga	14	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:57777250A>G	uc003hch.2	+	2	793	c.446A>G	c.(445-447)GAC>GGC	p.D149G	REST_uc003hci.2_Missense_Mutation_p.D149G|REST_uc003hcj.1_Missense_Mutation_p.D149G|REST_uc010ihf.2_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	149					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			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					GGAGCGGAGGACAAAGGCAAG	0.468													G	57777250	A	G	57777250	3	3	189	1	0	0	0	0	1	0	0	0	13234	275	10	3	448	3	REST	4	57777250	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	226	57777250	133377026	1236	99093											
LPHN3	23284	broad.mit.edu	37	chr4	62758502	62758502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaccggagtactagtAccccatctccagctgtcgag	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:62758502A>G	uc010ihh.2	+	7	1578	c.1405A>G	c.(1405-1407)ACC>GCC	p.T469A	LPHN3_uc003hcq.3_Missense_Mutation_p.T469A|LPHN3_uc003hcs.1_Missense_Mutation_p.T298A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	469	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GAGTACTAGTACCCCATCTCC	0.547													G	62758502	A	G	62758502	3	3	189	1	0	0	0	0	1	0	0	0	8917	391	14	3	1431	3	LPHN3	4	62758502	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4981252	62758502	128395774	1237	99094											
EPHA5	2044	broad.mit.edu	37	chr4	66197715	66197715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacctgagccacagcgTccattgaactgtatccattt	8	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:66197715T>G	uc003hcy.2	-	17	3177	c.2984A>C	c.(2983-2985)GAC>GCC	p.D995A	EPHA5_uc003hcx.2_Missense_Mutation_p.D927A|EPHA5_uc003hcz.2_Missense_Mutation_p.D973A|EPHA5_uc011cah.1_Missense_Mutation_p.D996A|EPHA5_uc011cai.1_Missense_Mutation_p.D974A|EPHA5_uc003hda.2_Missense_Mutation_p.D996A	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	995	Cytoplasmic (Potential).|SAM.				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						AGCCACAGCGTCCATTGAACT	0.423										TSP Lung(17;0.13)			G	66197715	T	G	66197715	3	3	189	1	0	0	0	0	1	0	0	0	5170	1667	58	5	137	5	EPHA5	4	66197715	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3439213	66197715	124956561	1238	99095											
YTHDC1	91746	broad.mit.edu	37	chr4	69202829	69202829	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtcactggcctcacttcGagtgtcataatcatttccct	7	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:69202829G>A	uc003hdx.2	-	4	1152	c.799C>T	c.(799-801)CGA>TGA	p.R267*	YTHDC1_uc003hdy.2_Nonsense_Mutation_p.R267*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	267										upper_aerodigestive_tract(1)|ovary(1)	2						GCCTCACTTCGAGTGTCATAA	0.333													A	69202829	G	A	69202829	4	1	189	1	0	0	0	0	0	1	0	0	17493	1066	37	1	1440	1	YTHDC1	4	69202829	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3005114	69202829	121951447	1239	99096											
UGT2B10	7365	broad.mit.edu	37	chr4	69682128	69682128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctgtaaagatgtagttTcaaataagaaacttatgaaa	6	4	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:69682128T>C	uc003hee.2	+	1	416	c.391T>C	c.(391-393)TCA>CCA	p.S131P	UGT2B10_uc011cam.1_Missense_Mutation_p.S131P	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	131					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						AGATGTAGTTTCAAATAAGAA	0.323													C	69682128	T	C	69682128	3	2	189	1	0	0	0	0	1	0	0	0	16953	1783	62	3	393	3	UGT2B10	4	69682128	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	479299	69682128	121472148	1240	99097											
UGT2B10	7365	broad.mit.edu	37	chr4	69696589	69696589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggaaagaagggaaaaAgggattagttatatctgaga	13	1	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:69696589A>G	uc003hee.2	+	6	1604	c.1579A>G	c.(1579-1581)AGG>GGG	p.R527G	UGT2B10_uc011cam.1_Missense_Mutation_p.R443G	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	527					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						GAAGGGAAAAAGGGATTAGTT	0.373													G	69696589	A	G	69696589	3	3	189	1	0	0	0	0	1	0	0	0	16953	63	3	3	1601	3	UGT2B10	4	69696589	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14461	69696589	121457687	1241	99098											
UGT2A3	79799	broad.mit.edu	37	chr4	69817054	69817054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctataagcattacatcgtagTtggtttcctgtagcttcttc	7	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:69817054T>C	uc003hef.2	-	1	456	c.425A>G	c.(424-426)AAC>AGC	p.N142S	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	142	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TACATCGTAGTTGGTTTCCTG	0.378													C	69817054	T	C	69817054	3	2	189	1	0	0	0	0	1	0	0	0	16952	1725	60	3	1182	3	UGT2A3	4	69817054	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	120465	69817054	121337222	1242	99099											
C4orf35	85438	broad.mit.edu	37	chr4	71201539	71201539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctacattaactgactctgaTgagaagtttatcactgtgtt	8	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:71201539T>C	uc003hff.2	+	1	869	c.783T>C	c.(781-783)GAT>GAC	p.D261D		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	261						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				CTGACTCTGATGAGAAGTTTA	0.403													C	71201539	T	C	71201539	2	2	189	1	0	0	0	0	0	0	0	1	2265	1461	51	3		3	C4orf35	4	71201539	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1384485	71201539	119952737	1243	99100											
MUC7	4589	broad.mit.edu	37	chr4	71346984	71346984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccacccacaccttctgcaActacaccagctccaccatct	2	22	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:71346984A>G	uc011cat.1	+	4	811	c.523A>G	c.(523-525)ACT>GCT	p.T175A	MUC7_uc011cau.1_Missense_Mutation_p.T175A|MUC7_uc003hfj.2_Missense_Mutation_p.T175A|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	175	1.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			ACCTTCTGCAACTACACCAGC	0.532													G	71346984	A	G	71346984	3	3	189	1	0	0	0	0	1	0	0	0	9981	43	2	3	529	3	MUC7	4	71346984	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	145445	71346984	119807292	1244	99101											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205379	73205379	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgttgccataaacagtAcctagatcatcaaggccttc	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:73205379A>G	uc003hgk.1	-	5	730	c.693T>C	c.(691-693)GGT>GGC	p.G231G		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	231					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			CATAAACAGTACCTAGATCAT	0.463													G	73205379	A	G	73205379	2	3	189	1	0	0	0	0	0	0	0	1	267	378	14	3		3	ADAMTS3	4	73205379	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1858395	73205379	117948897	1245	99102											
ANKRD17	26057	broad.mit.edu	37	chr4	73981536	73981536	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catatagtgaacaacatattAccttatcagtgatggttgct	7	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:73981536A>G	uc003hgp.2	-	23	4401	c.4284_splice	c.e23+1	p.K1428_splice	ANKRD17_uc003hgo.2_Splice_Site_p.K1315_splice|ANKRD17_uc003hgq.2_Splice_Site_p.K1177_splice|ANKRD17_uc003hgr.2_Splice_Site_p.K1427_splice|ANKRD17_uc011cbd.1_Splice_Site_p.K993_splice	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			ACAACATATTACCTTATCAGT	0.363													G	73981536	A	G	73981536	5	3	189	1	0	0	0	0	0	0	1	0	646	405	14	3	3573	3	ANKRD17	4	73981536	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	776157	73981536	117172740	1246	99103											
ANKRD17	26057	broad.mit.edu	37	chr4	74008406	74008406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccaaaagtagttccaccActgccagatgaccccctgca	8	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:74008406A>G	uc003hgp.2	-	12	2153	c.2036T>C	c.(2035-2037)GTG>GCG	p.V679A	ANKRD17_uc003hgo.2_Missense_Mutation_p.V566A|ANKRD17_uc003hgq.2_Missense_Mutation_p.V679A|ANKRD17_uc003hgr.2_Missense_Mutation_p.V679A|ANKRD17_uc011cbd.1_Missense_Mutation_p.V244A	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	679	ANK 14.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			TAGTTCCACCACTGCCAGATG	0.433													G	74008406	A	G	74008406	3	3	189	1	0	0	0	0	1	0	0	0	646	159	6	3	5867	3	ANKRD17	4	74008406	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26870	74008406	117145870	1247	99104											
ALB	213	broad.mit.edu	37	chr4	74279175	74279175	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctgtgaaaatcaagattcGatctccagtaaactgaagga	8	7	3	3	rs143665140		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:74279175G>A	uc003hgs.3	+	8	955	c.882G>A	c.(880-882)TCG>TCA	p.S294S	ALB_uc003hgw.3_Silent_p.S102S|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Silent_p.S294S|ALB_uc010iii.2_Silent_p.S179S|ALB_uc003hgu.3_Silent_p.S144S|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Silent_p.S184S|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	294	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	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(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATCAAGATTCGATCTCCAGTA	0.418													A	74279175	G	A	74279175	2	1	189	1	0	0	0	0	0	0	0	1	486	1045	37	1		1	ALB	4	74279175	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	270769	74279175	116875101	1248	99105											
CDKL2	8999	broad.mit.edu	37	chr4	76551133	76551133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaccattccataacTcccttctccaaccaaaccca	0	19	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:76551133T>C	uc003hiq.2	-	2	565	c.40A>G	c.(40-42)AGT>GGT	p.S14G	CDKL2_uc011cbp.1_Missense_Mutation_p.S14G|CDKL2_uc010iix.1_RNA	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	14	ATP (By similarity).|Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATTCCATAACTCCCTTCTCCA	0.328													C	76551133	T	C	76551133	3	2	189	1	0	0	0	0	1	0	0	0	3154	1551	54	3	1481	3	CDKL2	4	76551133	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2271958	76551133	114603143	1249	99106											
G3BP2	9908	broad.mit.edu	37	chr4	76570767	76570767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtggaccaccgggaccTcgatcattgcgcctaatatc	9	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:76570767T>C	uc003hir.2	-	12	1461	c.1296A>G	c.(1294-1296)CGA>CGG	p.R432R	G3BP2_uc003his.2_Silent_p.R432R|G3BP2_uc003hit.2_Silent_p.R399R	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	432	Gly-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CACCGGGACCTCGATCATTGC	0.512													C	76570767	T	C	76570767	2	2	189	1	0	0	0	0	0	0	0	1	6142	1538	54	3		3	G3BP2	4	76570767	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	19634	76570767	114583509	1250	99107											
SHROOM3	57619	broad.mit.edu	37	chr4	77661944	77661944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcggaggagcgtcggAcagcggccgtggcccccaga	18	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:77661944A>G	uc011cbx.1	+	5	3571	c.2618A>G	c.(2617-2619)GAC>GGC	p.D873G	SHROOM3_uc011cbz.1_Missense_Mutation_p.D697G|SHROOM3_uc003hkf.1_Missense_Mutation_p.D748G|SHROOM3_uc003hkg.2_Missense_Mutation_p.D651G	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	873					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			skin(2)|ovary(1)	3			Lung(101;0.0903)			GGAGCGTCGGACAGCGGCCGT	0.687													G	77661944	A	G	77661944	3	3	189	1	0	0	0	0	1	0	0	0	14295	275	10	3	2636	3	SHROOM3	4	77661944	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1091177	77661944	113492332	1251	99108											
ANKRD56	345079	broad.mit.edu	37	chr4	77817393	77817393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacccttgggctgggtgccGttcctgccttggagggcttc	14	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:77817393G>A	uc003hki.2	-	1	1610	c.1610C>T	c.(1609-1611)ACG>ATG	p.T537M		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	537											0						GCTGGGTGCCGTTCCTGCCTT	0.577													A	77817393	G	A	77817393	3	1	189	1	0	0	0	0	1	0	0	0	682	1145	40	1	775	1	ANKRD56	4	77817393	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	155449	77817393	113336883	1252	99109											
MRPL1	65008	broad.mit.edu	37	chr4	78804445	78804445	+	Frame_Shift_Del	DEL	A	A	-													aagaaaaaacaccagatgagAaaaaagatgaaatagaaaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:78804444_78804444GA>G	uc003hku.2	+	2	390	c.192_192GA>G	c.(190-192)gagfs	p.E64fs		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	64							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CACCAGATGAGAAAAAAGATG	0.299													-	78804445	A	-	78804445	7	5	189	1	0	1	0	1	0	0	0	0	9774	247	9	0	203	0	MRPL1	4	78804445	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	987052	78804445	112349831	1253	99110											
FRAS1	80144	broad.mit.edu	37	chr4	79205664	79205664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggtgtgtgcacagctGtggactgggtttttaccaag	15	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:79205664G>A	uc003hlb.2	+	13	1801	c.1361G>A	c.(1360-1362)TGT>TAT	p.C454Y	FRAS1_uc003hkw.2_Missense_Mutation_p.C454Y|FRAS1_uc003hky.1_Missense_Mutation_p.C158Y|FRAS1_uc003hkz.2_Missense_Mutation_p.C158Y|FRAS1_uc003hla.1_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	454	FU 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GTGCACAGCTGTGGACTGGGT	0.502													A	79205664	G	A	79205664	3	1	189	1	0	0	0	0	1	0	0	0	6042	1377	48	4	1411	4	FRAS1	4	79205664	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	401219	79205664	111948612	1254	99111											
NAA11	84779	broad.mit.edu	37	chr4	80246583	80246583	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catctgccatctgcgagagaTcccgcttcatagcataagca	8	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:80246583T>A	uc003hlt.3	-	1	589	c.449A>T	c.(448-450)GAT>GTT	p.D150V		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	150	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						CTGCGAGAGATCCCGCTTCAT	0.522													A	80246583	T	A	80246583	3	1	189	1	0	0	0	0	1	0	0	0	10117	1435	50	5	244	5	NAA11	4	80246583	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1040919	80246583	110907693	1255	99112											
SEC31A	22872	broad.mit.edu	37	chr4	83765642	83765642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccatgcattatgaaaccCggaggtggaggattttctcc	10	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:83765642C>T	uc003hnf.2	-	21	2687	c.2523G>A	c.(2521-2523)CCG>CCA	p.P841P	SEC31A_uc003hnd.2_5'UTR|SEC31A_uc003hne.2_Silent_p.P605P|SEC31A_uc011ccl.1_Silent_p.P802P|SEC31A_uc003hnl.2_Silent_p.P802P|SEC31A_uc003hng.2_Silent_p.P841P|SEC31A_uc003hnh.2_Silent_p.P841P|SEC31A_uc003hni.2_Silent_p.P841P|SEC31A_uc003hnj.2_Silent_p.P802P|SEC31A_uc011ccm.1_Silent_p.P836P|SEC31A_uc011ccn.1_Silent_p.P841P|SEC31A_uc003hnk.2_Silent_p.P802P|SEC31A_uc003hnm.2_Silent_p.P841P|SEC31A_uc003hnn.1_Silent_p.P841P	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	841	Interaction with PDCD6.|Pro-rich.				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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TTATGAAACCCGGAGGTGGAG	0.453													T	83765642	C	T	83765642	2	4	189	1	0	0	0	0	0	0	0	1	13998	639	23	1		1	SEC31A	4	83765642	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3519059	83765642	107388634	1256	99113											
HELQ	113510	broad.mit.edu	37	chr4	84350768	84350768	+	Frame_Shift_Del	DEL	T	T	-													gtgtctttttgtaggagtccTttttctgtcaggtatctaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:84350767_84350767CT>C	uc003hom.3	-	11	2607	c.2428_2428AG>G	c.(2428-2430)ggafs	p.G810fs	HELQ_uc010ikb.3_Frame_Shift_Del_p.G743fs|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	810							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGTAGGAGTCCTTTTTCTGTC	0.328								Other identified genes with known or suspected DNA repair function					-	84350768	T	-	84350768	7	5	189	1	0	1	0	1	0	0	0	0	7047	1606	56	0	906	0	HELQ	4	84350768	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	585126	84350768	106803508	1257	99114											
CDS1	1040	broad.mit.edu	37	chr4	85553014	85553014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgaagaaacattatcGtctgcagttttatatggtgt	10	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:85553014G>A	uc011ccv.1	+	6	1121	c.623G>A	c.(622-624)CGT>CAT	p.R208H	CDS1_uc010ike.1_Missense_Mutation_p.R12H	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	208					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAACATTATCGTCTGCAGTTT	0.328													A	85553014	G	A	85553014	3	1	189	1	0	0	0	0	1	0	0	0	3177	1145	40	1	645	1	CDS1	4	85553014	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1202246	85553014	105601262	1258	99115											
CDS1	1040	broad.mit.edu	37	chr4	85569713	85569713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttttatcattaggggCccaaatcccagcaaagtgct	8	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:85569713C>T	uc011ccv.1	+	13	1758	c.1260C>T	c.(1258-1260)GGC>GGT	p.G420G		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	420					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTAGGGGCCCAAATCCCA	0.373													T	85569713	C	T	85569713	2	4	189	1	0	0	0	0	0	0	0	1	3177	726	26	2		2	CDS1	4	85569713	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	16699	85569713	105584563	1259	99116											
WDFY3	23001	broad.mit.edu	37	chr4	85660161	85660161	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcccaagtcaaggcaattAccttcactaatatcttggct	5	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:85660161A>G	uc003hpd.2	-	40	6982	c.6574_splice	c.e40+1	p.G2192_splice		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAGGCAATTACCTTCACTAA	0.413													G	85660161	A	G	85660161	5	3	189	1	0	0	0	0	0	0	1	0	17267	405	14	3	4120	3	WDFY3	4	85660161	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	90448	85660161	105494115	1260	99117											
WDFY3	23001	broad.mit.edu	37	chr4	85672710	85672710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtctatgattaagacccGcatgaagtcaaaaacgaact	8	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:85672710G>A	uc003hpd.2	-	36	6307	c.5899C>T	c.(5899-5901)CGG>TGG	p.R1967W		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1967						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTAAGACCCGCATGAAGTCA	0.433													A	85672710	G	A	85672710	3	1	189	1	0	0	0	0	1	0	0	0	17267	1086	38	1	4813	1	WDFY3	4	85672710	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	12549	85672710	105481566	1261	99118											
WDFY3	23001	broad.mit.edu	37	chr4	85694043	85694043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacaaatttctcacaaacCgcaaaggttggcaaagtaga	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:85694043C>T	uc003hpd.2	-	30	5202	c.4794G>A	c.(4792-4794)GCG>GCA	p.A1598A		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1598						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTCACAAACCGCAAAGGTTG	0.338													T	85694043	C	T	85694043	2	4	189	1	0	0	0	0	0	0	0	1	17267	639	23	1		1	WDFY3	4	85694043	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21333	85694043	105460233	1262	99119											
WDFY3	23001	broad.mit.edu	37	chr4	85731422	85731422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagcaacgagcaaggatgTaatgtacacaaatcctccaa	7	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:85731422T>C	uc003hpd.2	-	14	2371	c.1963A>G	c.(1963-1965)ACA>GCA	p.T655A	WDFY3_uc003hpf.2_Missense_Mutation_p.T655A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	655						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGCAAGGATGTAATGTACACA	0.433													C	85731422	T	C	85731422	3	2	189	1	0	0	0	0	1	0	0	0	17267	1638	57	3	8880	3	WDFY3	4	85731422	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	37379	85731422	105422854	1263	99120											
MAPK10	5602	broad.mit.edu	37	chr4	86989018	86989018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catacttgggccgattctccAcatagtttcttactgtgggt	9	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:86989018A>G	uc003hpq.2	-	9	960	c.893T>C	c.(892-894)GTG>GCG	p.V298A	MAPK10_uc010ikg.2_Missense_Mutation_p.V260A|MAPK10_uc003hpr.2_Missense_Mutation_p.V260A|MAPK10_uc003hps.2_Missense_Mutation_p.V298A|MAPK10_uc003hpt.2_Missense_Mutation_p.V298A|MAPK10_uc003hpu.2_Missense_Mutation_p.V298A|MAPK10_uc003hpv.2_Missense_Mutation_p.V153A|MAPK10_uc003hpn.2_Missense_Mutation_p.V46A|MAPK10_uc003hpo.2_Missense_Mutation_p.V153A|MAPK10_uc011ccw.1_Missense_Mutation_p.V184A|MAPK10_uc003hpp.2_Missense_Mutation_p.V153A	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	298	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CCGATTCTCCACATAGTTTCT	0.458													G	86989018	A	G	86989018	3	3	189	1	0	0	0	0	1	0	0	0	9272	159	6	3	526	3	MAPK10	4	86989018	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1257596	86989018	104165258	1264	99121											
PTPN13	5783	broad.mit.edu	37	chr4	87638237	87638237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcccaggggtagatgAaaccttaagtcaaggccagt	12	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:87638237A>G	uc003hpz.2	+	9	1832	c.1352A>G	c.(1351-1353)GAA>GGA	p.E451G	PTPN13_uc003hpy.2_Missense_Mutation_p.E451G|PTPN13_uc003hqa.2_Missense_Mutation_p.E451G|PTPN13_uc003hqb.2_Missense_Mutation_p.E451G	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	451						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGGGTAGATGAAACCTTAAGT	0.388													G	87638237	A	G	87638237	3	3	189	1	0	0	0	0	1	0	0	0	12782	246	9	3	1382	3	PTPN13	4	87638237	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	649219	87638237	103516039	1265	99122											
PTPN13	5783	broad.mit.edu	37	chr4	87672210	87672210	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgagtttaaatagaagTcctgaaaggaggaaacatga	12	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:87672210T>C	uc003hpz.2	+	19	3579	c.3099T>C	c.(3097-3099)AGT>AGC	p.S1033S	PTPN13_uc003hpy.2_Silent_p.S1033S|PTPN13_uc003hqa.2_Silent_p.S1033S|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1033						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAAATAGAAGTCCTGAAAGGA	0.388													C	87672210	T	C	87672210	2	2	189	1	0	0	0	0	0	0	0	1	12782	1664	58	3		3	PTPN13	4	87672210	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	33973	87672210	103482066	1266	99123											
PTPN13	5783	broad.mit.edu	37	chr4	87679930	87679930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgacttggatggatgctTgaagccaggtactttacatt	11	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:87679930T>C	uc003hpz.2	+	22	3893	c.3413T>C	c.(3412-3414)TTG>TCG	p.L1138S	PTPN13_uc003hpy.2_Missense_Mutation_p.L1138S|PTPN13_uc003hqa.2_Missense_Mutation_p.L1119S|PTPN13_uc003hqb.2_Missense_Mutation_p.L947S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1138	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GATGGATGCTTGAAGCCAGGT	0.403													C	87679930	T	C	87679930	3	2	189	1	0	0	0	0	1	0	0	0	12782	1821	63	3	3495	3	PTPN13	4	87679930	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7720	87679930	103474346	1267	99124											
SLC10A6	345274	broad.mit.edu	37	chr4	87769943	87769943	+	Frame_Shift_Del	DEL	C	C	-													tgaaaatgttagagatggtgCcccccgggcagcagcccatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:87769942_87769942GC>G	uc003hqd.2	-	0	475	c.327_327GC>C	c.(325-327)ggcfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGC	0.507													-	87769943	C	-	87769943	7	5	189	1	0	1	0	1	0	0	0	0	14378	739	26	0	831	0	SLC10A6	4	87769943	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	90013	87769943	103384333	1268	99125											
AFF1	4299	broad.mit.edu	37	chr4	88047293	88047293	+	Frame_Shift_Del	DEL	C	C	-													tcctcaaagaaggaaatgctCcccccgccacccgtgtcctc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:88047292_88047292TC>T	uc011ccz.2	+	13	2890	c.2615_2615TC>T	c.(2614-2616)ctcfs	p.L872fs	AFF1_uc003hqj.4_Frame_Shift_Del_p.L865fs|AFF1_uc003hqk.4_Frame_Shift_Del_p.L865fs|AFF1_uc011cda.2_Frame_Shift_Del_p.L503fs	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	865	Poly-Ser.					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)		AAGGAAATGCTCCCCCCGCCA	0.577													-	88047293	C	-	88047293	7	5	189	1	0	1	0	1	0	0	0	0	356	842	30	0	2687	0	AFF1	4	88047293	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	277350	88047293	103106983	1269	99126											
KLHL8	57563	broad.mit.edu	37	chr4	88099686	88099686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatttctggtccaaagaAccaactgtttttgttgatag	7	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:88099686A>G	uc011cdb.1	-	5	1424	c.1039T>C	c.(1039-1041)TTC>CTC	p.F347L	KLHL8_uc003hql.1_Missense_Mutation_p.F347L|KLHL8_uc003hqm.1_Missense_Mutation_p.F271L|KLHL8_uc003hqn.1_Missense_Mutation_p.F164L|KLHL8_uc010ikj.1_5'UTR	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	347	Kelch 1.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GGTCCAAAGAACCAACTGTTT	0.443													G	88099686	A	G	88099686	3	3	189	1	0	0	0	0	1	0	0	0	8395	43	2	3	847	3	KLHL8	4	88099686	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	52393	88099686	103054590	1270	99127											
NUDT9	53343	broad.mit.edu	37	chr4	88363012	88363012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggactggactggtgggcCgggggcttttggggcgatgg	22	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:88363012C>T	uc003hqq.2	+	4	798	c.475C>T	c.(475-477)CGG>TGG	p.R159W	NUDT9_uc003hqr.2_Missense_Mutation_p.R109W|NUDT9_uc010ikl.2_Missense_Mutation_p.R127W	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	nudix-type motif 9 isoform a	159						mitochondrion	ADP-ribose diphosphatase activity				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ACTGGTGGGCCGGGGGCTTTT	0.428													T	88363012	C	T	88363012	3	4	189	1	0	0	0	0	1	0	0	0	10746	643	23	1	489	1	NUDT9	4	88363012	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	263326	88363012	102791264	1271	99128											
SPARCL1	8404	broad.mit.edu	37	chr4	88414912	88414912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggccatcagtgccgccaTcatcgccatcatcatcgcca	9	16	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:88414912T>C	uc010ikm.2	-	5	1612	c.1040A>G	c.(1039-1041)GAT>GGT	p.D347G	SPARCL1_uc011cdc.1_Missense_Mutation_p.D222G|SPARCL1_uc003hqs.3_Missense_Mutation_p.D347G|SPARCL1_uc011cdd.1_Missense_Mutation_p.D222G|SPARCL1_uc003hqt.2_Missense_Mutation_p.D347G	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	347					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGTGCCGCcatcatcgccatc	0.443													C	88414912	T	C	88414912	3	2	189	1	0	0	0	0	1	0	0	0	14995	1435	50	3	986	3	SPARCL1	4	88414912	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	51900	88414912	102739364	1272	99129											
MEPE	56955	broad.mit.edu	37	chr4	88766708	88766709	+	Frame_Shift_Ins	INS	-	-	A													aaaacatctctcaaaagtcaINSaaaaaatccccagtgatttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:88766707_88766708C>CA	uc021xpx.1	+	3	792_793	c.780_781C>CA	c.(778-783)gtcaaafs	p.V260fs	MEPE_uc021xpu.1_Frame_Shift_Ins_p.V229fs|MEPE_uc021xpv.1_Frame_Shift_Ins_p.V116fs|MEPE_uc021xpw.1_Frame_Shift_Ins_p.V116fs|MEPE_uc010ikn.3_Frame_Shift_Ins_p.V116fs|MEPE_uc003hqy.3_Frame_Shift_Ins_p.V229fs|MEPE_uc021xpy.1_Frame_Shift_Ins_p.V116fs	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	229					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)		TCTCAAAAGTCAAAAAAATCCC	0.416													A	88766709	-	A	88766708	7	5	189	1	0	1	1	0	0	0	0	0	9478	131	5	0	698	0	MEPE	4	88766708	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	351796	88766708	102387568	1273	99130											
HERC5	51191	broad.mit.edu	37	chr4	89425424	89425424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaattacattttcaacgActctgtaaaggcggtttatg	7	7	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:89425424A>G	uc003hrt.2	+	21	2777	c.2624A>G	c.(2623-2625)GAC>GGC	p.D875G	HERC5_uc011cdm.1_Missense_Mutation_p.D513G	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	875	HECT.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTCAACGACTCTGTAAAG	0.343													G	89425424	A	G	89425424	3	3	189	1	0	0	0	0	1	0	0	0	7061	275	10	3	2706	3	HERC5	4	89425424	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	658716	89425424	101728852	1274	99131											
HERC3	8916	broad.mit.edu	37	chr4	89585357	89585357	+	Frame_Shift_Del	DEL	A	A	-													ttggaatggaagttttcttgAaaaaaagtaagtgacttaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:89585356_89585356GA>G	uc003hrw.1	+	11	1490	c.1324_1324GA>G	c.(1324-1326)gaafs	p.E442fs	HERC3_uc011cdn.1_Frame_Shift_Del_p.E324fs|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	442					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)		AAGTTTTCTTGAAAAAAAGTA	0.398													-	89585357	A	-	89585357	7	5	189	1	0	1	0	1	0	0	0	0	7059	246	9	0	1363	0	HERC3	4	89585357	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	159933	89585357	101568919	1275	99132											
HERC3	8916	broad.mit.edu	37	chr4	89608434	89608434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggagataatgtaactGtgtgcaaggataacaggtta	14	4	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:89608434G>A	uc003hrw.1	+	23	2807	c.2641G>A	c.(2641-2643)GTG>ATG	p.V881M	HERC3_uc011cdn.1_Missense_Mutation_p.V763M|HERC3_uc011cdo.1_Missense_Mutation_p.V325M	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	881					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TAATGTAACTGTGTGCAAGGA	0.353													A	89608434	G	A	89608434	3	1	189	1	0	0	0	0	1	0	0	0	7059	1377	48	4	2723	4	HERC3	4	89608434	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	23077	89608434	101545842	1276	99133											
GPRIN3	285513	broad.mit.edu	37	chr4	90169014	90169014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggactggaaaacactgtGctgccttcctctgagcttct	9	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:90169014G>A	uc003hsm.1	-	2	2767	c.2248C>T	c.(2248-2250)CAC>TAC	p.H750Y		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	750										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AAAACACTGTGCTGCCTTCCT	0.468													A	90169014	G	A	90169014	3	1	189	1	0	0	0	0	1	0	0	0	6731	1319	46	2	86	2	GPRIN3	4	90169014	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	560580	90169014	100985262	1277	99134											
GPRIN3	285513	broad.mit.edu	37	chr4	90171194	90171194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggctctcctagatcgTcttcttttccggaagctgca	9	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:90171194T>C	uc003hsm.1	-	2	587	c.68A>G	c.(67-69)GAC>GGC	p.D23G		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	23										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCCTAGATCGTCTTCTTTTCC	0.537													C	90171194	T	C	90171194	3	2	189	1	0	0	0	0	1	0	0	0	6731	1667	58	3	2266	3	GPRIN3	4	90171194	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2180	90171194	100983082	1278	99135											
MMRN1	22915	broad.mit.edu	37	chr4	90816310	90816310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccactcgggtcatgtcggCggagatagctacaactccag	11	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:90816310C>T	uc003hst.2	+	1	259	c.188C>T	c.(187-189)GCG>GTG	p.A63V	MMRN1_uc010iku.2_Missense_Mutation_p.A63V	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	63					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTCATGTCGGCGGAGATAGCT	0.473													T	90816310	C	T	90816310	3	4	189	1	0	0	0	0	1	0	0	0	9670	768	27	1	190	1	MMRN1	4	90816310	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	645116	90816310	100337966	1279	99136											
MMRN1	22915	broad.mit.edu	37	chr4	90849013	90849013	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgactcttctgcagaagaaGattgacaatatttctttgac	7	8	3	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:90849013G>A	uc003hst.2	+	5	1094	c.1023G>A	c.(1021-1023)AAG>AAA	p.K341K	MMRN1_uc010iku.2_Silent_p.K307K|MMRN1_uc011cds.1_Silent_p.K83K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	341	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCAGAAGAAGATTGACAATA	0.368													A	90849013	G	A	90849013	2	1	189	1	0	0	0	0	0	0	0	1	9670	933	33	4		4	MMRN1	4	90849013	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	32703	90849013	100305263	1280	99137											
FAM190A	401145	broad.mit.edu	37	chr4	91230144	91230144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgtggatgtaacagaaCgggcaggaagctctttacaa	12	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:91230144C>T	uc003hsv.3	+	2	1049	c.709C>T	c.(709-711)CGG>TGG	p.R237W	FAM190A_uc003hsu.3_Missense_Mutation_p.R237W|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.R237W	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	237										large_intestine(1)|ovary(1)	2						TGTAACAGAACGGGCAGGAAG	0.433													T	91230144	C	T	91230144	3	4	189	1	0	0	0	0	1	0	0	0	5521	527	19	1	711	1	FAM190A	4	91230144	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	381131	91230144	99924132	1281	99138											
GRID2	2895	broad.mit.edu	37	chr4	94436498	94436498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtattcccaaatgtggcGgatgatcaaccgaagcaatg	10	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:94436498G>A	uc011cdt.1	+	13	2387	c.2129G>A	c.(2128-2130)CGG>CAG	p.R710Q	GRID2_uc011cdu.1_Missense_Mutation_p.R615Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	710	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	CAAATGTGGCGGATGATCAAC	0.473													A	94436498	G	A	94436498	3	1	189	1	0	0	0	0	1	0	0	0	6772	1116	39	1	2179	1	GRID2	4	94436498	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3206354	94436498	96717778	1282	99139											
ATOH1	474	broad.mit.edu	37	chr4	94750593	94750593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggagcggcgcaggatGcatgggctgaaccacgcctt	16	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:94750593G>A	uc003hta.1	+	1	516	c.516G>A	c.(514-516)ATG>ATA	p.M172I		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	172	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGCGCAGGATGCATGGGCTGA	0.597													A	94750593	G	A	94750593	3	1	189	1	0	0	0	0	1	0	0	0	1112	1319	46	2	518	2	ATOH1	4	94750593	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	314095	94750593	96403683	1283	99140											
SMARCAD1	56916	broad.mit.edu	37	chr4	95158115	95158115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgttagttgattgaatcaAcaagcactatggatggagca	10	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:95158115A>G	uc003htc.3	+	5	805	c.550A>G	c.(550-552)ACA>GCA	p.T184A	SMARCAD1_uc003htb.3_Missense_Mutation_p.T184A|SMARCAD1_uc003htd.3_Missense_Mutation_p.T184A|SMARCAD1_uc010ila.2_Missense_Mutation_p.T47A	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	184	CUE 1.				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			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATTGAATCAACAAGCACTAT	0.323													G	95158115	A	G	95158115	3	3	189	1	0	0	0	0	1	0	0	0	14772	43	2	3	564	3	SMARCAD1	4	95158115	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	407522	95158115	95996161	1284	99141											
HPGDS	27306	broad.mit.edu	37	chr4	95220654	95220654	+	Nonsense_Mutation	SNP	G	G	A													gagtttggtttggggccttcGttttatccagttagcgacgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:95220654G>A	uc003hte.1	-	6	668	c.577C>T	c.(577-579)CGA>TGA	p.R193*		NM_014485	NP_055300	O60760	HPGDS_HUMAN	prostaglandin D2 synthase, hematopoietic	193	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			ovary(1)	1					Glutathione(DB00143)	TGGGGCCTTCGTTTTATCCAG	0.478													A	95220654	G	A	95220654	4	1	189	1	0	0	0	0	0	1	0	0	7335	1153	40	1	26	1	HPGDS	4	95220654	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	62539	95220654	95933622	1285	99142	489	2									
HPGDS	27306	broad.mit.edu	37	chr4	95220656	95220656	+	Missense_Mutation	SNP	T	T	C													gtttggtttggggccttcgtTttatccagttagcgacggca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:95220656T>C	uc003hte.1	-	6	666	c.575A>G	c.(574-576)AAA>AGA	p.K192R		NM_014485	NP_055300	O60760	HPGDS_HUMAN	prostaglandin D2 synthase, hematopoietic	192	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			ovary(1)	1					Glutathione(DB00143)	GGGCCTTCGTTTTATCCAGTT	0.473													C	95220656	T	C	95220656	3	2	189	1	0	0	0	0	1	0	0	0	7335	1841	64	3	28	3	HPGDS	4	95220656	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2	95220656	95933620	1286	99143	489	2									
PDLIM5	10611	broad.mit.edu	37	chr4	95561578	95561578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaacgaactccgatgtgCgcccattgtaaccaggtcat	11	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:95561578C>T	uc003hti.2	+	9	1411	c.1260C>T	c.(1258-1260)TGC>TGT	p.C420C	PDLIM5_uc011cdx.1_Silent_p.C317C|PDLIM5_uc003hth.2_Silent_p.C311C|PDLIM5_uc003htj.2_Silent_p.C95C|PDLIM5_uc003htk.2_Silent_p.C449C|PDLIM5_uc011cdy.1_Silent_p.C298C|PDLIM5_uc003htl.2_Silent_p.C95C	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	420	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CTCCGATGTGCGCCCATTGTA	0.423													T	95561578	C	T	95561578	2	4	189	1	0	0	0	0	0	0	0	1	11683	776	27	1		1	PDLIM5	4	95561578	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	340922	95561578	95592698	1287	99144											
ADH4	127	broad.mit.edu	37	chr4	100052676	100052676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtttcagatccacctgcAcagtcaagggcaaaatccac	8	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:100052676A>G	uc003hun.2	-	6	898	c.822T>C	c.(820-822)TGT>TGC	p.C274C	uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.C293C	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	274					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			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATCCACCTGCACAGTCAAGGG	0.403													G	100052676	A	G	100052676	2	3	189	1	0	0	0	0	0	0	0	1	310	157	6	3		3	ADH4	4	100052676	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4491098	100052676	91101600	1288	99145											
ADH6	130	broad.mit.edu	37	chr4	100128683	100128683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgaacactggcaggcaacAccccaacaaccacacagacc	7	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:100128683A>G	uc003hup.3	-	7	978	c.884T>C	c.(883-885)GTG>GCG	p.V295A	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.V295A|ADH6_uc011cef.1_Missense_Mutation_p.V86A|ADH6_uc010ile.2_Intron	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	295	NAD (By similarity).				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GGCAGGCAACACCCCAACAAC	0.428													G	100128683	A	G	100128683	3	3	189	1	0	0	0	0	1	0	0	0	312	159	6	3	259	3	ADH6	4	100128683	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	76007	100128683	91025593	1289	99146											
ADH6	130	broad.mit.edu	37	chr4	100131424	100131424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggtaaacctgctggTaccatcagacatcagttggg	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:100131424T>C	uc003hup.3	-	5	476	c.382A>G	c.(382-384)ACC>GCC	p.T128A	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.T128A|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Missense_Mutation_p.T128A	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	128					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AACCTGCTGGTACCATCAGAC	0.348													C	100131424	T	C	100131424	3	2	189	1	0	0	0	0	1	0	0	0	312	1638	57	3	769	3	ADH6	4	100131424	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2741	100131424	91022852	1290	99147											
RG9MTD2	93587	broad.mit.edu	37	chr4	100479326	100479326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggttccatttgacattgTcgctctaattttttcctctt	5	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:100479326T>C	uc003huy.2	-	3	541	c.228A>G	c.(226-228)CGA>CGG	p.R76R	RG9MTD2_uc003huz.3_Silent_p.R76R|RG9MTD2_uc003hva.3_Silent_p.R76R	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	76	Potential.						methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TTTGACATTGTCGCTCTAATT	0.333													C	100479326	T	C	100479326	2	2	189	1	0	0	0	0	0	0	0	1	13272	1654	58	3		3	RG9MTD2	4	100479326	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	347902	100479326	90674950	1291	99148											
DNAJB14	79982	broad.mit.edu	37	chr4	100844195	100844195	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctttaaaaggtttactttActtttaaaagcatctgttgc	6	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:100844195A>G	uc003hvl.2	-	3	602	c.451_splice	c.e3+1	p.K151_splice	DNAJB14_uc003hvk.2_Splice_Site_p.K66_splice|DNAJB14_uc010ili.2_Splice_Site_p.K84_splice	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14						protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GGTTTACTTTACTTTTAAAAG	0.348													G	100844195	A	G	100844195	5	3	189	1	0	0	0	0	0	0	1	0	4619	405	14	3	710	3	DNAJB14	4	100844195	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	364869	100844195	90310081	1292	99149											
DDIT4L	115265	broad.mit.edu	37	chr4	101111136	101111136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaactgccagttgcaAccatggtcaacggctctgtt	9	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:101111136A>G	uc003hvq.2	-	2	208	c.5T>C	c.(4-6)GTT>GCT	p.V2A		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	2					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GCCAGTTGCAACCATGGTCAA	0.557													G	101111136	A	G	101111136	3	3	189	1	0	0	0	0	1	0	0	0	4332	43	2	3	584	3	DDIT4L	4	101111136	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	266941	101111136	90043140	1293	99150											
PPP3CA	5530	broad.mit.edu	37	chr4	102001725	102001725	+	Frame_Shift_Del	DEL	A	A	-													atctaagtaatttggtgctgAaaaaattgtaattagagaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:102001724_102001724GA>G	uc011cen.1	-	7	1595	c.920_920TC>C	c.(919-921)tcafs	p.S307fs	PPP3CA_uc003hvu.2_Frame_Shift_Del_p.S307fs|PPP3CA_uc010ilj.2_Frame_Shift_Del_p.S307fs|PPP3CA_uc003hvt.2_Frame_Shift_Del_p.S294fs|PPP3CA_uc003hvs.2_Frame_Shift_Del_p.S240fs|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	307					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)		ATTTGGTGCTGAAAAAATTGT	0.318													-	102001725	A	-	102001725	7	5	189	1	0	1	0	1	0	0	0	0	12397	246	9	0	674	0	PPP3CA	4	102001725	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	890589	102001725	89152551	1294	99151											
CENPE	1062	broad.mit.edu	37	chr4	104104378	104104378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgtccatcactaagTttcttgatcacttgtcccaa	4	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:104104378T>C	uc003hxb.1	-	10	903	c.813A>G	c.(811-813)AAA>AAG	p.K271K	CENPE_uc003hxc.1_Silent_p.K271K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	271	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			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CATCACTAAGTTTCTTGATCA	0.343													C	104104378	T	C	104104378	2	2	189	1	0	0	0	0	0	0	0	1	3230	1722	60	3		3	CENPE	4	104104378	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2102653	104104378	87049898	1295	99152											
TET2	54790	broad.mit.edu	37	chr4	106156249	106156249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcttacttcaagcaaAgctcagtgttcactaaggat	9	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:106156249A>G	uc003hxk.2	+	3	1536	c.1150A>G	c.(1150-1152)AGC>GGC	p.S384G	TET2_uc011cez.1_Missense_Mutation_p.S405G|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S384G|TET2_uc003hxi.1_Missense_Mutation_p.S384G	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	384					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			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTCAAGCAAAGCTCAGTGTT	0.458			Mis N|F		MDS								G	106156249	A	G	106156249	3	3	189	1	0	0	0	0	1	0	0	0	15767	72	3	3	1152	3	TET2	4	106156249	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2051871	106156249	84998027	1296	99153											
NPNT	255743	broad.mit.edu	37	chr4	106848587	106848587	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaacctgtaatcaaggTaggaaaacagtctgacataa	9	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:106848587T>C	uc003hya.2	+	3	470	c.265_splice	c.e3+2	p.D89_splice	NPNT_uc011cfc.1_Splice_Site_p.D106_splice|NPNT_uc011cfd.1_Splice_Site_p.D89_splice|NPNT_uc011cfe.1_Splice_Site_p.D89_splice|NPNT_uc010ilt.1_Splice_Site_p.D89_splice|NPNT_uc011cff.1_Splice_Site_p.D89_splice|NPNT_uc010ilu.1_Splice_Site	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor						cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GTAATCAAGGTAGGAAAACAG	0.398													C	106848587	T	C	106848587	5	2	189	1	0	0	0	0	0	0	1	0	10590	1652	57	3	332	3	NPNT	4	106848587	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	692338	106848587	84305689	1297	99154											
PAPSS1	9061	broad.mit.edu	37	chr4	108622349	108622349	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttagccaaactgtgcaaccAcgaaagccacctctggtccc	8	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:108622349A>G	uc003hyk.2	-	2	237	c.153T>C	c.(151-153)CGT>CGC	p.R51R	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	51	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CTGTGCAACCACGAAAGCCAC	0.463													G	108622349	A	G	108622349	2	3	189	1	0	0	0	0	0	0	0	1	11434	146	6	3		3	PAPSS1	4	108622349	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1773762	108622349	82531927	1298	99155											
HADH	3033	broad.mit.edu	37	chr4	108940769	108940769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccaccaccagacaagacCgattcgctggcctccatttc	7	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:108940769C>T	uc003hyq.2	+	4	642	c.493C>T	c.(493-495)CGA>TGA	p.R165*	HADH_uc010ilx.2_Nonsense_Mutation_p.R165*|HADH_uc010ily.2_5'UTR|HADH_uc003hyr.2_Nonsense_Mutation_p.R169*	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	165					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	CAGACAAGACCGATTCGCTGG	0.498													T	108940769	C	T	108940769	4	4	189	1	0	0	0	0	0	1	0	0	6942	644	23	1	507	1	HADH	4	108940769	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	318420	108940769	82213507	1299	99156											
RPL34	6164	broad.mit.edu	37	chr4	109546411	109546411	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaatgaaaagacgctgTatgtatgacttttttttttt	6	3	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:109546411T>C	uc003hyz.2	+	5	439	c.395_splice	c.e5+2		RPL34_uc003hza.2_Splice_Site	NM_000995	NP_000986	P49207	RL34_HUMAN	ribosomal protein L34						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		AAAGACGCTGTATGTATGACT	0.308													C	109546411	T	C	109546411	5	2	189	1	0	0	0	0	0	0	1	0	13583	1652	57	3		3	RPL34	4	109546411	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	605642	109546411	81607865	1300	99157											
AGXT2L1	64850	broad.mit.edu	37	chr4	109675819	109675819	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttttcctttctgaaacTtatatgggctaatctcaatt	4	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:109675819T>G	uc003hzc.2	-	5	639	c.458A>C	c.(457-459)AAG>ACG	p.K153T	AGXT2L1_uc010imc.2_Missense_Mutation_p.K147T|AGXT2L1_uc011cfm.1_Missense_Mutation_p.K113T|AGXT2L1_uc011cfn.1_Missense_Mutation_p.K80T|AGXT2L1_uc011cfo.1_Missense_Mutation_p.K95T	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	153					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TTTCTGAAACTTATATGGGCT	0.249													G	109675819	T	G	109675819	3	3	189	1	0	0	0	0	1	0	0	0	406	1609	56	5	1077	5	AGXT2L1	4	109675819	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	129408	109675819	81478457	1301	99158											
COL25A1	84570	broad.mit.edu	37	chr4	109753592	109753592	+	Splice_Site	DEL	A	A	-													cataggaccatctgtaccctAaaaaaaagataatatgagat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:109753591_109753591TA>T	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						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)		ATCTGTACCCTAAAAAAAAGA	0.393													-	109753592	A	-	109753592	8	5	189	1	0	1	0	1	0	0	1	0	3684	377	13	0		0	COL25A1	4	109753592	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	77773	109753592	81400684	1302	99159											
GAR1	54433	broad.mit.edu	37	chr4	110739135	110739135	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagatgacatagtttgTaaatgtaccacagatgaaaa	9	4	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:110739135T>C	uc003hzt.2	+	3	565	c.258T>C	c.(256-258)TGT>TGC	p.C86C	GAR1_uc003hzu.2_Silent_p.C86C|GAR1_uc010imh.1_Silent_p.C86C|GAR1_uc010imi.2_Silent_p.C86C	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	86					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0						ACATAGTTTGTAAATGTACCA	0.338													C	110739135	T	C	110739135	2	2	189	1	0	0	0	0	0	0	0	1	6240	1644	57	3		3	GAR1	4	110739135	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	985543	110739135	80415141	1303	99160											
EGF	1950	broad.mit.edu	37	chr4	110909752	110909752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacagatatagatgaatGtgagatgggtgtcccagtgt	13	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:110909752G>A	uc003hzy.3	+	18	3073	c.2621G>A	c.(2620-2622)TGT>TAT	p.C874Y	EGF_uc011cfu.1_Missense_Mutation_p.C832Y|EGF_uc011cfv.1_Missense_Mutation_p.C874Y|EGF_uc010imk.2_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	874	EGF-like 7; calcium-binding (Potential).|Extracellular (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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATAGATGAATGTGAGATGGGT	0.453													A	110909752	G	A	110909752	3	1	189	1	0	0	0	0	1	0	0	0	4962	1377	48	4	2691	4	EGF	4	110909752	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	170617	110909752	80244524	1304	99161											
ENPEP	2028	broad.mit.edu	37	chr4	111398135	111398135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatggcctgtatctcctgAccatggagttcgccggctgg	14	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:111398135A>G	uc003iab.3	+	1	907	c.565A>G	c.(565-567)ACC>GCC	p.T189A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	189	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTATCTCCTGACCATGGAGTT	0.517													G	111398135	A	G	111398135	3	3	189	1	0	0	0	0	1	0	0	0	5128	275	10	3	567	3	ENPEP	4	111398135	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	488383	111398135	79756141	1305	99162											
ENPEP	2028	broad.mit.edu	37	chr4	111409702	111409702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtttctaaggagcaTagtggccaccgatcatgaac	10	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:111409702T>C	uc003iab.3	+	2	992	c.650T>C	c.(649-651)ATA>ACA	p.I217T		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	217	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTAAGGAGCATAGTGGCCACC	0.383													C	111409702	T	C	111409702	3	2	189	1	0	0	0	0	1	0	0	0	5128	1406	49	3	656	3	ENPEP	4	111409702	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11567	111409702	79744574	1306	99163											
ALPK1	80216	broad.mit.edu	37	chr4	113352170	113352170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaaaaacaggagtctgCatcactgctctaaaaacaga	8	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:113352170C>T	uc003iap.3	+	11	1746	c.1467C>T	c.(1465-1467)TGC>TGT	p.C489C	ALPK1_uc003ian.3_Silent_p.C489C|ALPK1_uc011cfx.1_Silent_p.C411C|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.C317C	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	489							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGGAGTCTGCATCACTGCTC	0.368													T	113352170	C	T	113352170	2	4	189	1	0	0	0	0	0	0	0	1	544	718	25	2		2	ALPK1	4	113352170	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1942468	113352170	77802106	1307	99164											
C4orf21	55345	broad.mit.edu	37	chr4	113540080	113540080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatacgtttcaacgaacTgtataattttttgtaatgaa	6	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:113540080T>C	uc003iau.2	-	6	1329	c.1118A>G	c.(1117-1119)CAG>CGG	p.Q373R	C4orf21_uc003iaw.2_Missense_Mutation_p.Q373R	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCAACGAACTGTATAATTTT	0.348													C	113540080	T	C	113540080	3	2	189	1	0	0	0	0	1	0	0	0	2254	1580	55	3	5288	3	C4orf21	4	113540080	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	187910	113540080	77614196	1308	99165											
LARP7	51574	broad.mit.edu	37	chr4	113568024	113568024	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgttgtttatataagTataccacattataagtctac	6	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:113568024T>C	uc003iay.2	+	5	743	c.465T>C	c.(463-465)AGT>AGC	p.S155S	LARP7_uc003iaz.2_Silent_p.S162S|LARP7_uc003iba.2_Silent_p.S76S|LARP7_uc003ibb.2_Silent_p.S155S	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	155	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTTATATAAGTATACCACATT	0.333													C	113568024	T	C	113568024	2	2	189	1	0	0	0	0	0	0	0	1	8633	1635	57	3		3	LARP7	4	113568024	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	27944	113568024	77586252	1309	99166											
PRSS12	8492	broad.mit.edu	37	chr4	119203203	119203203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtcaccccatacaccAcccagctctctccgggccgt	9	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:119203203A>G	uc003ica.1	-	13	2563	c.2516T>C	c.(2515-2517)GTG>GCG	p.V839A		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	839	Peptidase S1.			VVY -> AAL (in Ref. 3; AAD25919).		membrane	scavenger receptor activity			skin(1)	1						CCCATACACCACCCAGCTCTC	0.537													G	119203203	A	G	119203203	3	3	189	1	0	0	0	0	1	0	0	0	12615	159	6	3	115	3	PRSS12	4	119203203	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5635179	119203203	71951073	1310	99167											
PRSS12	8492	broad.mit.edu	37	chr4	119216958	119216958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaatttttcccaccaatgaTccgcttctgccgacggtgca	8	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:119216958T>A	uc003ica.1	-	10	1938	c.1891A>T	c.(1891-1893)ATC>TTC	p.I631F		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	631	Peptidase S1.	Reactive bond homolog (Potential).				membrane	scavenger receptor activity			skin(1)	1						CCACCAATGATCCGCTTCTGC	0.368													A	119216958	T	A	119216958	3	1	189	1	0	0	0	0	1	0	0	0	12615	1435	50	5	752	5	PRSS12	4	119216958	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	13755	119216958	71937318	1311	99168											
PRDM5	11107	broad.mit.edu	37	chr4	121732558	121732558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggcttgatgctgaagaAcactttttattgcacactga	9	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:121732558A>G	uc003idn.2	-	8	1162	c.912T>C	c.(910-912)TGT>TGC	p.C304C	PRDM5_uc003ido.2_Silent_p.C273C|PRDM5_uc010ine.2_Silent_p.C273C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	304	C2H2-type 5.				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)|pancreas(1)	2						ATGCTGAAGAACACTTTTTAT	0.264													G	121732558	A	G	121732558	2	3	189	1	0	0	0	0	0	0	0	1	12460	41	2	3		3	PRDM5	4	121732558	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2515600	121732558	69421718	1312	99169											
PRDM5	11107	broad.mit.edu	37	chr4	121737729	121737729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctggtgctgctcaaaActacaagacaaccagcaaag	8	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:121737729A>G	uc003idn.2	-	7	994	c.744T>C	c.(742-744)AGT>AGC	p.S248S	PRDM5_uc003ido.2_Silent_p.H217H|PRDM5_uc010ine.2_Silent_p.H217H|PRDM5_uc010inf.2_Silent_p.H217H	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	248	C2H2-type 3; atypical.				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)|pancreas(1)	2						GCTGCTCAAAACTACAAGACA	0.478													G	121737729	A	G	121737729	2	3	189	1	0	0	0	0	0	0	0	1	12460	57	2	3		3	PRDM5	4	121737729	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5171	121737729	69416547	1313	99170											
KIAA1109	84162	broad.mit.edu	37	chr4	123109176	123109176	+	Frame_Shift_Del	DEL	G	G	-													aattcatgcatattgtgaaaGgaaagcttgaaaatgttcga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123109175_123109175AG>A	uc003ieh.3	+	6	798	c.753_753AG>A	c.(751-753)aaafs	p.K251fs	KIAA1109_uc003iei.1_Frame_Shift_Del_p.K5fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	251					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						ATATTGTGAAAGGAAAGCTTG	0.338													-	123109176	G	-	123109176	7	5	189	1	0	1	0	1	0	0	0	0	8208	1001	35	0	780	0	KIAA1109	4	123109176	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1371447	123109176	68045100	1314	99171											
KIAA1109	84162	broad.mit.edu	37	chr4	123109234	123109234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatatgttggtcttcAaaatgatgagtaagaaaatc	8	5	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123109234A>G	uc003ieh.2	+	7	857	c.812A>G	c.(811-813)CAA>CGA	p.Q271R	KIAA1109_uc003iei.1_Missense_Mutation_p.Q25R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	271					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTTGGTCTTCAAAATGATGAG	0.313													G	123109234	A	G	123109234	3	3	189	1	0	0	0	0	1	0	0	0	8208	130	5	3	838	3	KIAA1109	4	123109234	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	58	123109234	68045042	1315	99172											
KIAA1109	84162	broad.mit.edu	37	chr4	123128293	123128293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagactggtctagtgacagTcctccagacattttttcatt	7	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123128293T>C	uc003ieh.2	+	14	1572	c.1527T>C	c.(1525-1527)AGT>AGC	p.S509S	KIAA1109_uc003iei.1_Silent_p.S263S|KIAA1109_uc010ins.1_5'UTR|KIAA1109_uc003iej.1_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	509					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTAGTGACAGTCCTCCAGACA	0.318													C	123128293	T	C	123128293	2	2	189	1	0	0	0	0	0	0	0	1	8208	1664	58	3		3	KIAA1109	4	123128293	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	19059	123128293	68025983	1316	99173											
KIAA1109	84162	broad.mit.edu	37	chr4	123141513	123141513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactgatggtcctgaatGccctacagctttcttggaaa	8	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123141513G>A	uc003ieh.2	+	20	2546	c.2501G>A	c.(2500-2502)TGC>TAC	p.C834Y	KIAA1109_uc003iei.1_Missense_Mutation_p.C588Y|KIAA1109_uc010ins.1_Missense_Mutation_p.C178Y|KIAA1109_uc003iej.1_Missense_Mutation_p.C219Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	834					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GGTCCTGAATGCCCTACAGCT	0.373													A	123141513	G	A	123141513	3	1	189	1	0	0	0	0	1	0	0	0	8208	1319	46	2	2579	2	KIAA1109	4	123141513	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	13220	123141513	68012763	1317	99174											
KIAA1109	84162	broad.mit.edu	37	chr4	123156180	123156180	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcccaaaattatagatggTaataaaatgtttcgtcactt	5	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123156180T>C	uc003ieh.2	+	25	3619	c.3574_splice	c.e25+2	p.G1192_splice	KIAA1109_uc003iei.1_Splice_Site_p.G945_splice|KIAA1109_uc010ins.1_Splice_Site_p.G535_splice	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTATAGATGGTAATAAAATGT	0.333													C	123156180	T	C	123156180	5	2	189	1	0	0	0	0	0	0	1	0	8208	1652	57	3	3674	3	KIAA1109	4	123156180	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	14667	123156180	67998096	1318	99175											
KIAA1109	84162	broad.mit.edu	37	chr4	123161495	123161495	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttgaacagctttctgTtccaacttttaaggtataaa	6	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123161495T>C	uc003ieh.2	+	27	4703	c.4658T>C	c.(4657-4659)GTT>GCT	p.V1553A	KIAA1109_uc003iei.1_Missense_Mutation_p.V1306A|KIAA1109_uc010ins.1_Missense_Mutation_p.V896A|KIAA1109_uc003iek.2_Missense_Mutation_p.V172A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1553					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CAGCTTTCTGTTCCAACTTTT	0.333													C	123161495	T	C	123161495	3	2	189	1	0	0	0	0	1	0	0	0	8208	1725	60	3	4764	3	KIAA1109	4	123161495	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5315	123161495	67992781	1319	99176											
KIAA1109	84162	broad.mit.edu	37	chr4	123170828	123170828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggacttgaaaatttaAccataaaaggcaagcatttt	7	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123170828A>G	uc003ieh.2	+	34	5746	c.5701A>G	c.(5701-5703)ACC>GCC	p.T1901A	KIAA1109_uc003iek.2_Missense_Mutation_p.T520A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1901					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGAAAATTTAACCATAAAAGG	0.373													G	123170828	A	G	123170828	3	3	189	1	0	0	0	0	1	0	0	0	8208	43	2	3	5835	3	KIAA1109	4	123170828	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9333	123170828	67983448	1320	99177											
KIAA1109	84162	broad.mit.edu	37	chr4	123175388	123175388	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgatttgaaaaaagatctAcctctgatgcctcctcctcc	6	12	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123175388A>T	uc003ieh.2	+	36	6006	c.5961A>T	c.(5959-5961)CTA>CTT	p.L1987L	KIAA1109_uc003iel.1_5'Flank|KIAA1109_uc003iek.2_Silent_p.L606L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1987					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAAAAGATCTACCTCTGATGC	0.378													T	123175388	A	T	123175388	2	4	189	1	0	0	0	0	0	0	0	1	8208	378	14	5		5	KIAA1109	4	123175388	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4560	123175388	67978888	1321	99178											
KIAA1109	84162	broad.mit.edu	37	chr4	123255605	123255605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagctgtatggtatgaaagAtagtgcaacatctcctcctt	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123255605A>G	uc003ieh.2	+	67	11798	c.11753A>G	c.(11752-11754)GAT>GGT	p.D3918G	KIAA1109_uc003iem.2_Intron	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3918					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GGTATGAAAGATAGTGCAACA	0.478													G	123255605	A	G	123255605	3	3	189	1	0	0	0	0	1	0	0	0	8208	333	12	3	12019	3	KIAA1109	4	123255605	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	80217	123255605	67898671	1322	99179											
ADAD1	132612	broad.mit.edu	37	chr4	123342484	123342484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgttaagtcggtttaAcctgcttgccaaagaagcta	9	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123342484A>G	uc003ieo.2	+	12	1788	c.1556A>G	c.(1555-1557)AAC>AGC	p.N519S	ADAD1_uc003iep.2_Missense_Mutation_p.N508S|ADAD1_uc003ieq.2_Missense_Mutation_p.N501S	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	519	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						AGTCGGTTTAACCTGCTTGCC	0.338													G	123342484	A	G	123342484	3	3	189	1	0	0	0	0	1	0	0	0	231	43	2	3	1594	3	ADAD1	4	123342484	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	86879	123342484	67811792	1323	99180											
SPATA5	166378	broad.mit.edu	37	chr4	123949496	123949496	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgggtgctctaaaacAatgatagcaaaggctttggc	10	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:123949496A>G	uc003iez.3	+	11	2098	c.2025A>G	c.(2023-2025)ACA>ACG	p.T675T	SPATA5_uc003iey.2_Silent_p.T674T	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	675	ATP 2 (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GCTCTAAAACAATGATAGCAA	0.443													G	123949496	A	G	123949496	2	3	189	1	0	0	0	0	0	0	0	1	15010	117	5	3		3	SPATA5	4	123949496	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	607012	123949496	67204780	1324	99181											
ANKRD50	57182	broad.mit.edu	37	chr4	125591594	125591594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatataaagtgtaggccgAccatcagcatctttgcagtt	9	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:125591594A>G	uc003ifg.3	-	3	3104	c.2838T>C	c.(2836-2838)GGT>GGC	p.G946G	ANKRD50_uc011cgo.1_Silent_p.G767G|ANKRD50_uc010inw.2_Silent_p.G946G	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	946	ANK 15.									central_nervous_system(1)	1						GTGTAGGCCGACCATCAGCAT	0.423													G	125591594	A	G	125591594	2	3	189	1	0	0	0	0	0	0	0	1	677	262	10	3		3	ANKRD50	4	125591594	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1642098	125591594	65562682	1325	99182											
FAT4	79633	broad.mit.edu	37	chr4	126240723	126240723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcccagatggtcaattgTatataaaaagtgaactggac	8	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126240723T>C	uc003ifj.3	+	1	3157	c.3157T>C	c.(3157-3159)TAT>CAT	p.Y1053H		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1053	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGGTCAATTGTATATAAAAAG	0.408													C	126240723	T	C	126240723	3	2	189	1	0	0	0	0	1	0	0	0	5692	1638	57	3	3159	3	FAT4	4	126240723	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	649129	126240723	64913553	1326	99183											
FAT4	79633	broad.mit.edu	37	chr4	126328057	126328057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaatgctctcgtcacatAcactatcattagtggagctg	8	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126328057A>G	uc003ifj.3	+	3	5330	c.5330A>G	c.(5329-5331)TAC>TGC	p.Y1777C	FAT4_uc011cgp.1_Missense_Mutation_p.Y75C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1777	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTCGTCACATACACTATCATT	0.428													G	126328057	A	G	126328057	3	3	189	1	0	0	0	0	1	0	0	0	5692	391	14	3	5340	3	FAT4	4	126328057	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	87334	126328057	64826219	1327	99184											
FAT4	79633	broad.mit.edu	37	chr4	126336235	126336235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcactgctcaagtctccatTattttgttggatgtaaatga	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126336235T>C	uc003ifj.3	+	5	6117	c.6117T>C	c.(6115-6117)ATT>ATC	p.I2039I	FAT4_uc011cgp.1_Silent_p.I337I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2039	Cadherin 19.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAGTCTCCATTATTTTGTTGG	0.413													C	126336235	T	C	126336235	2	2	189	1	0	0	0	0	0	0	0	1	5692	1742	61	3		3	FAT4	4	126336235	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	8178	126336235	64818041	1328	99185											
FAT4	79633	broad.mit.edu	37	chr4	126389698	126389698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacactgcgagttgaacagTtatggatttgaggagttatc	11	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126389698T>C	uc003ifj.3	+	11	11931	c.11931T>C	c.(11929-11931)AGT>AGC	p.S3977S	FAT4_uc011cgp.1_Silent_p.S2240S|FAT4_uc003ifi.1_Silent_p.S1455S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3977	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGTTGAACAGTTATGGATTTG	0.313													C	126389698	T	C	126389698	2	2	189	1	0	0	0	0	0	0	0	1	5692	1722	60	3		3	FAT4	4	126389698	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	53463	126389698	64764578	1329	99186											
FAT4	79633	broad.mit.edu	37	chr4	126389840	126389840	+	Frame_Shift_Del	DEL	T	T	-													agacaggcgaccgggctgagTttttggcccttgaaattgcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126389839_126389839GT>G	uc003ifj.4	+	10	12072	c.12072_12072GT>G	c.(12070-12072)gagfs	p.E4024fs	FAT4_uc011cgp.2_Frame_Shift_Del_p.E2287fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.E1502fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4024	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						ACCGGGCTGAGTTTTTGGCCC	0.408													-	126389840	T	-	126389840	7	5	189	1	0	1	0	1	0	0	0	0	5692	1725	60	0	12115	0	FAT4	4	126389840	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	142	126389840	64764436	1330	99187											
FAT4	79633	broad.mit.edu	37	chr4	126398439	126398439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagtttgcagtcaatggAaggcctctggaacccagcca	12	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126398439A>G	uc003ifj.3	+	13	12423	c.12423A>G	c.(12421-12423)GGA>GGG	p.G4141G	FAT4_uc011cgp.1_Silent_p.G2404G|FAT4_uc003ifi.1_Silent_p.G1619G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4141	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGTCAATGGAAGGCCTCTGG	0.418													G	126398439	A	G	126398439	2	3	189	1	0	0	0	0	0	0	0	1	5692	233	9	3		3	FAT4	4	126398439	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8599	126398439	64755837	1331	99188											
FAT4	79633	broad.mit.edu	37	chr4	126400953	126400953	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaacatggtggcacatgTatggattactggtcatggca	12	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126400953T>C	uc003ifj.3	+	14	12531	c.12531T>C	c.(12529-12531)TGT>TGC	p.C4177C	FAT4_uc011cgp.1_Intron|FAT4_uc003ifi.1_Silent_p.C1655C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4177	EGF-like 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTGGCACATGTATGGATTACT	0.443													C	126400953	T	C	126400953	2	2	189	1	0	0	0	0	0	0	0	1	5692	1644	57	3		3	FAT4	4	126400953	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2514	126400953	64753323	1332	99189											
FAT4	79633	broad.mit.edu	37	chr4	126411790	126411790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcacaactcagaaaccAtccccagcgcccctttggca	5	18	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:126411790A>G	uc003ifj.3	+	17	13813	c.13813A>G	c.(13813-13815)ATC>GTC	p.I4605V	FAT4_uc011cgp.1_Missense_Mutation_p.I2846V|FAT4_uc003ifi.1_Missense_Mutation_p.I2082V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4605	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTCAGAAACCATCCCCAGCGC	0.488													G	126411790	A	G	126411790	3	3	189	1	0	0	0	0	1	0	0	0	5692	217	8	3	13879	3	FAT4	4	126411790	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	10837	126411790	64742486	1333	99190											
INTU	27152	broad.mit.edu	37	chr4	128554306	128554306	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgggtcagcgactcgggTtcatattcctcagcgagtag	13	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:128554306T>C	uc003ifk.1	+	1	187	c.117T>C	c.(115-117)GGT>GGC	p.G39G	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	39										ovary(1)	1						GCGACTCGGGTTCATATTCCT	0.498													C	128554306	T	C	128554306	2	2	189	1	0	0	0	0	0	0	0	1	7786	1712	60	3		3	INTU	4	128554306	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2142516	128554306	62599970	1334	99191											
INTU	27152	broad.mit.edu	37	chr4	128627893	128627893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctattctcagtaggctAcaaggtacttccaaagtagc	8	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:128627893A>G	uc003ifk.1	+	12	2110	c.2040A>G	c.(2038-2040)CTA>CTG	p.L680L	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	680										ovary(1)	1						TCAGTAGGCTACAAGGTACTT	0.453													G	128627893	A	G	128627893	2	3	189	1	0	0	0	0	0	0	0	1	7786	378	14	3		3	INTU	4	128627893	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	73587	128627893	62526383	1335	99192											
INTU	27152	broad.mit.edu	37	chr4	128632194	128632194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatccaccctcagctaatAaagaatttccatcagtgttg	5	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:128632194A>G	uc003ifk.1	+	14	2566	c.2496A>G	c.(2494-2496)ATA>ATG	p.I832M	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	832										ovary(1)	1						CTCAGCTAATAAAGAATTTCC	0.428													G	128632194	A	G	128632194	3	3	189	1	0	0	0	0	1	0	0	0	7786	352	13	3	2550	3	INTU	4	128632194	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4301	128632194	62522082	1336	99193											
PLK4	10733	broad.mit.edu	37	chr4	128814700	128814700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttagcactggaatccatAatttcagaagaggaaaggaa	10	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:128814700A>G	uc003ifo.2	+	12	2600	c.2355A>G	c.(2353-2355)ATA>ATG	p.I785M	PLK4_uc011cgs.1_Missense_Mutation_p.I753M|PLK4_uc011cgt.1_Missense_Mutation_p.I744M	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	785					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				0						TGGAATCCATAATTTCAGAAG	0.328													G	128814700	A	G	128814700	3	3	189	1	0	0	0	0	1	0	0	0	12098	352	13	3	2401	3	PLK4	4	128814700	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	182506	128814700	62339576	1337	99194											
PHF17	79960	broad.mit.edu	37	chr4	129783206	129783206	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagggctctgcggctgccTgaggaagtagtggatttcct	15	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:129783206T>C	uc003igk.2	+	9	1609	c.1329T>C	c.(1327-1329)CCT>CCC	p.P443P	PHF17_uc003igj.2_Silent_p.P443P|PHF17_uc003igl.2_Silent_p.P431P|PHF17_uc011cgy.1_Silent_p.P443P|PHF17_uc003igm.2_Silent_p.P443P	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	443					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						TGCGGCTGCCTGAGGAAGTAG	0.527													C	129783206	T	C	129783206	2	2	189	1	0	0	0	0	0	0	0	1	11828	1567	55	3		3	PHF17	4	129783206	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	968506	129783206	61371070	1338	99195											
SCLT1	132320	broad.mit.edu	37	chr4	129878253	129878253	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcattttctctatgtcttcTtctttttgcttctcctcaag	3	11	7	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:129878253T>C	uc003igp.2	-	13	1580	c.1074A>G	c.(1072-1074)GAA>GAG	p.E358E	SCLT1_uc003ign.2_Silent_p.E22E|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	358	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						CTATGTCTTCTTCTTTTTGCT	0.289													C	129878253	T	C	129878253	2	2	189	1	0	0	0	0	0	0	0	1	13906	1606	56	3		3	SCLT1	4	129878253	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	95047	129878253	61276023	1339	99196											
PCDH10	57575	broad.mit.edu	37	chr4	134071649	134071649	+	Frame_Shift_Del	DEL	C	C	-													gtgctggacattaatgacaaCcccccctctttcccggagcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:134071648_134071648AC>A	uc003iha.3	+	0	1179	c.353_353AC>A	c.(352-354)aacfs	p.N118fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Del_p.N118fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(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)		ATTAATGACAACCCCCCCTCT	0.602													-	134071649	C	-	134071649	7	5	189	1	0	1	0	1	0	0	0	0	11507	506	18	0	356	0	PCDH10	4	134071649	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	4193396	134071649	57082627	1340	99197											
PCDH10	57575	broad.mit.edu	37	chr4	134073171	134073171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgtgcgtggcaacgaaAtgaacctctttcgcatggac	11	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:134073171A>G	uc003iha.2	+	1	2702	c.1876A>G	c.(1876-1878)ATG>GTG	p.M626V	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.M626V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	626	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCAACGAAATGAACCTCTT	0.682													G	134073171	A	G	134073171	3	3	189	1	0	0	0	0	1	0	0	0	11507	101	4	3	1878	3	PCDH10	4	134073171	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1522	134073171	57081105	1341	99198											
PCDH18	54510	broad.mit.edu	37	chr4	138451686	138451686	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccattagatgggtcaatGgttacatatgtagttatgga	11	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:138451686G>T	uc003ihe.3	-	1	1944	c.1557C>A	c.(1555-1557)ACC>ACA	p.T519T	PCDH18_uc003ihf.3_Silent_p.T512T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.T299T|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	519	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ATGGGTCAATGGTTACATATG	0.423													T	138451686	G	T	138451686	2	4	189	1	0	0	0	0	0	0	0	1	11513	1335	47	5		5	PCDH18	4	138451686	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4378515	138451686	52702590	1342	99199											
MAML3	55534	broad.mit.edu	37	chr4	140810714	140810714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatacggcatcaaggggtTtttgttggggttggccactg	15	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:140810714T>C	uc003ihz.1	-	3	2616	c.1864A>G	c.(1864-1866)AAC>GAC	p.N622D	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	622	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					ATCAAGGGGTTTTTGTTGGGG	0.388													C	140810714	T	C	140810714	3	2	189	1	0	0	0	0	1	0	0	0	9207	1841	64	3	1556	3	MAML3	4	140810714	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2359028	140810714	50343562	1343	99200											
CLGN	1047	broad.mit.edu	37	chr4	141311858	141311858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatttcttcttcactcTtttcctcaggttcactttcc	2	13	7	0	rs113979220		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:141311858T>C	uc011chi.1	-	15	1894	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R	CLGN_uc003iii.2_Missense_Mutation_p.K559R	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	559	Cytoplasmic (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					TTCTTCACTCTTTTCCTCAGG	0.313													C	141311858	T	C	141311858	3	2	189	1	0	0	0	0	1	0	0	0	3524	1609	56	3	164	3	CLGN	4	141311858	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	501144	141311858	49842418	1344	99201											
OTUD4	54726	broad.mit.edu	37	chr4	146059468	146059468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagcatgcagaagctgcCcaggggtctcagattcaaga	11	10	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:146059468C>T	uc003ika.3	-	21	2402	c.2264G>A	c.(2263-2265)GGG>GAG	p.G755E	OTUD4_uc003ijz.3_Missense_Mutation_p.G754E	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	819							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CAGAAGCTGCCCAGGGGTCTC	0.478													T	146059468	C	T	146059468	3	4	189	1	0	0	0	0	1	0	0	0	11314	623	22	4	889	4	OTUD4	4	146059468	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4747610	146059468	45094808	1345	99202											
MMAA	166785	broad.mit.edu	37	chr4	146560420	146560420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcccatgtgctcagccGtttaattctcttggactcca	8	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:146560420G>A	uc003ikh.3	+	2	214	c.129G>A	c.(127-129)CCG>CCA	p.P43P	MMAA_uc003ikg.2_Silent_p.P43P|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	43						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGCTCAGCCGTTTAATTCTC	0.418													A	146560420	G	A	146560420	2	1	189	1	0	0	0	0	0	0	0	1	9639	1132	40	1		1	MMAA	4	146560420	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	500952	146560420	44593856	1346	99203											
POU4F2	5458	broad.mit.edu	37	chr4	147561397	147561397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggctcacgcgccgcacatgGccaccatgaaccccatgcac	9	19	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:147561397G>T	uc003ikv.2	+	2	915	c.667G>T	c.(667-669)GCC>TCC	p.A223S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	223					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			breast(1)	1	all_hematologic(180;0.151)					GCCGCACATGGCCACCATGAA	0.731													T	147561397	G	T	147561397	3	4	189	1	0	0	0	0	1	0	0	0	12279	1203	42	5	673	5	POU4F2	4	147561397	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1000977	147561397	43592879	1347	99204											
ARHGAP10	79658	broad.mit.edu	37	chr4	148993227	148993227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaactacgtcaagctgCtgtagctcctggcctcagag	10	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:148993227C>T	uc003ilf.2	+	23	2356	c.2356C>T	c.(2356-2358)CTG>TTG	p.L786L	ARHGAP10_uc003ilg.2_Silent_p.L384L|ARHGAP10_uc003ilh.2_Silent_p.L367L|ARHGAP10_uc003ili.2_Silent_p.L219L	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	786	SH3.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CGTCAAGCTGCTGTAGCTCCT	0.602													T	148993227	C	T	148993227	2	4	189	1	0	0	0	0	0	0	0	1	862	796	28	2		2	ARHGAP10	4	148993227	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1431830	148993227	42161049	1348	99205											
NR3C2	4306	broad.mit.edu	37	chr4	149002532	149002532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcggcttggcgttccccGactccaccttgggcagctgg	14	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:149002532G>A	uc003ilj.3	-	9	3252	c.2918C>T	c.(2917-2919)TCG>TTG	p.S973L	NR3C2_uc003ilk.3_Missense_Mutation_p.S856L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	973	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCGTTCCCCGACTCCACCTT	0.567													A	149002532	G	A	149002532	3	1	189	1	0	0	0	0	1	0	0	0	10631	1059	37	1	40	1	NR3C2	4	149002532	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	9305	149002532	42151744	1349	99206											
NR3C2	4306	broad.mit.edu	37	chr4	149357029	149357029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagatagatcccacagtActggctgccggactggaaag	11	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:149357029A>G	uc003ilj.3	-	2	1318	c.984T>C	c.(982-984)AGT>AGC	p.S328S	NR3C2_uc003ilk.3_Silent_p.S328S|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	328	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATCCCACAGTACTGGCTGCCG	0.507													G	149357029	A	G	149357029	2	3	189	1	0	0	0	0	0	0	0	1	10631	388	14	3		3	NR3C2	4	149357029	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	354497	149357029	41797247	1350	99207											
LRBA	987	broad.mit.edu	37	chr4	151236759	151236759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggtatggctggtcttgTacagcaccttgatgagctgg	14	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:151236759T>C	uc010ipj.2	-	52	8154	c.7680A>G	c.(7678-7680)GTA>GTG	p.V2560V	LRBA_uc010ipi.2_Silent_p.V82V|LRBA_uc003ils.3_Silent_p.V455V|LRBA_uc003ilt.3_Silent_p.V1208V|LRBA_uc003ilu.3_Silent_p.V2549V	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2560						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					GCTGGTCTTGTACAGCACCTT	0.388													C	151236759	T	C	151236759	2	2	189	1	0	0	0	0	0	0	0	1	8931	1625	57	3		3	LRBA	4	151236759	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1879730	151236759	39917517	1351	99208											
LRBA	987	broad.mit.edu	37	chr4	151356858	151356858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaataagttgtaaagggTtcctaaaaaatagcaattaa	8	3	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:151356858T>C	uc010ipj.2	-	47	7431	c.6957A>G	c.(6955-6957)GAA>GAG	p.E2319E	LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Silent_p.E209E|LRBA_uc003ilt.3_Silent_p.E967E|LRBA_uc003ilu.3_Silent_p.E2308E	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2319	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTGTAAAGGGTTCCTAAAAAA	0.328													C	151356858	T	C	151356858	2	2	189	1	0	0	0	0	0	0	0	1	8931	1722	60	3		3	LRBA	4	151356858	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	120099	151356858	39797418	1352	99209											
MAB21L2	10586	broad.mit.edu	37	chr4	151504269	151504269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggccatcgccaaaAccatccgagaggtctgtaag	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:151504269A>G	uc003ilw.2	+	1	1193	c.88A>G	c.(88-90)ACC>GCC	p.T30A	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	30					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CATCGCCAAAACCATCCGAGA	0.587													G	151504269	A	G	151504269	3	3	189	1	0	0	0	0	1	0	0	0	9142	43	2	3	90	3	MAB21L2	4	151504269	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	147411	151504269	39650007	1353	99210											
LRBA	987	broad.mit.edu	37	chr4	151604819	151604819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcttatcaaatgatcAcacatcttctcatcttctcg	4	13	7	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:151604819A>G	uc010ipj.2	-	37	6279	c.5805T>C	c.(5803-5805)TGT>TGC	p.C1935C	LRBA_uc003ilt.3_Silent_p.C594C|LRBA_uc003ilu.3_Silent_p.C1935C	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1935						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TCAAATGATCACACATCTTCT	0.373													G	151604819	A	G	151604819	2	3	189	1	0	0	0	0	0	0	0	1	8931	157	6	3		3	LRBA	4	151604819	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	100550	151604819	39549457	1354	99211											
LRBA	987	broad.mit.edu	37	chr4	151788975	151788975	+	Frame_Shift_Del	DEL	A	A	-													aggattaaaatagcagagagAaagcatccattcttgccaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:151788974_151788974GA>G	uc010ipj.3	-	21	2859	c.2615_2615TC>C	c.(2614-2616)tctfs	p.S872fs	LRBA_uc003ilu.4_Frame_Shift_Del_p.S872fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	872						Golgi apparatus|endoplasmic reticulum|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)					ATAGCAGAGAGAAAGCATCCA	0.338													-	151788975	A	-	151788975	7	5	189	1	0	1	0	1	0	0	0	0	8931	246	9	0	6125	0	LRBA	4	151788975	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	184156	151788975	39365301	1355	99212											
PRSS48	345062	broad.mit.edu	37	chr4	152212379	152212379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctggagtctacaccaAtgtaatctactaccaaaaat	4	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:152212379A>C	uc011cif.1	+	5	761	c.761A>C	c.(760-762)AAT>ACT	p.N254T	PRSS48_uc011cig.1_Missense_Mutation_p.N111T	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	254	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G254R(1)		large_intestine(1)	1						GTCTACACCAATGTAATCTAC	0.438													C	152212379	A	C	152212379	3	2	189	1	0	0	0	0	1	0	0	0	12630	101	4	5	779	5	PRSS48	4	152212379	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	423404	152212379	38941897	1356	99213											
FBXW7	55294	broad.mit.edu	37	chr4	153247360	153247360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcccaaaccctaagagtgGcatctcgagaaccgctaaca	7	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:153247360G>A	uc003ims.2	-	10	1591	c.1442C>T	c.(1441-1443)GCC>GTC	p.A481V	FBXW7_uc011cii.1_Missense_Mutation_p.A481V|FBXW7_uc003imt.2_Missense_Mutation_p.A481V|FBXW7_uc011cih.1_Missense_Mutation_p.A305V|FBXW7_uc003imq.2_Missense_Mutation_p.A401V|FBXW7_uc003imr.2_Missense_Mutation_p.A363V	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	481	WD 3.				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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCTAAGAGTGGCATCTCGAGA	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153247360	G	A	153247360	3	1	189	1	0	0	0	0	1	0	0	0	5769	1203	42	2	693	2	FBXW7	4	153247360	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1034981	153247360	37906916	1357	99214											
RNF175	285533	broad.mit.edu	37	chr4	154636790	154636790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtccgataagctccttgTaggcaaccggctgacactgt	10	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:154636790T>C	uc003int.2	-	7	1028	c.655A>G	c.(655-657)ACA>GCA	p.T219A	RNF175_uc003inu.1_Missense_Mutation_p.T91A	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	219						integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				AAGCTCCTTGTAGGCAACCGG	0.493													C	154636790	T	C	154636790	3	2	189	1	0	0	0	0	1	0	0	0	13463	1638	57	3	343	3	RNF175	4	154636790	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1389430	154636790	36517486	1358	99215											
PLRG1	5356	broad.mit.edu	37	chr4	155468901	155468901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatgaacatatgaatccGttgcattctgaggacccttc	8	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:155468901G>A	uc003iny.2	-	3	284	c.221C>T	c.(220-222)ACG>ATG	p.T74M	PLRG1_uc003inz.2_Missense_Mutation_p.T74M|PLRG1_uc011cil.1_Translation_Start_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	74						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				ATATGAATCCGTTGCATTCTG	0.343													A	155468901	G	A	155468901	3	1	189	1	0	0	0	0	1	0	0	0	12106	1145	40	1	1375	1	PLRG1	4	155468901	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	832111	155468901	35685375	1359	99216											
NPY2R	4887	broad.mit.edu	37	chr4	156135287	156135287	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatcttgcttggggtaAttggcaactccttggtgatc	10	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:156135287A>T	uc003ioq.2	+	2	691	c.196A>T	c.(196-198)ATT>TTT	p.I66F	NPY2R_uc003ior.2_Missense_Mutation_p.I66F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	66	Helical; Name=1; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				GCTTGGGGTAATTGGCAACTC	0.463													T	156135287	A	T	156135287	3	4	189	1	0	0	0	0	1	0	0	0	10609	101	4	5	198	5	NPY2R	4	156135287	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	666386	156135287	35018989	1360	99217											
GUCY1B3	2983	broad.mit.edu	37	chr4	156721148	156721148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagaggaatacaaactcaCccaagaactggaaatcctca	7	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:156721148C>T	uc003ipc.2	+	9	1264	c.1097C>T	c.(1096-1098)ACC>ATC	p.T366I	GUCY1B3_uc011cio.1_Missense_Mutation_p.T388I|GUCY1B3_uc011cip.1_Missense_Mutation_p.T346I|GUCY1B3_uc003ipd.2_Missense_Mutation_p.T294I|GUCY1B3_uc010iqf.2_Missense_Mutation_p.T366I|GUCY1B3_uc010iqg.2_Missense_Mutation_p.T294I|GUCY1B3_uc011ciq.1_Missense_Mutation_p.T294I	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	366					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TACAAACTCACCCAAGAACTG	0.458													T	156721148	C	T	156721148	3	4	189	1	0	0	0	0	1	0	0	0	6895	507	18	4	1131	4	GUCY1B3	4	156721148	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	585861	156721148	34433128	1361	99218											
PDGFC	56034	broad.mit.edu	37	chr4	157693895	157693895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttgccaagttggcctatAtagatcttctaagtccaact	7	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:157693895A>G	uc003iph.1	-	4	1137	c.646T>C	c.(646-648)TAT>CAT	p.Y216H	PDGFC_uc003ipi.1_Missense_Mutation_p.Y53H|PDGFC_uc011cis.1_Missense_Mutation_p.Y53H|PDGFC_uc011cir.1_Missense_Mutation_p.Y60H	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	216					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GTTGGCCTATATAGATCTTCT	0.388													G	157693895	A	G	157693895	3	3	189	1	0	0	0	0	1	0	0	0	11659	449	16	3	403	3	PDGFC	4	157693895	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	972747	157693895	33460381	1362	99219											
RXFP1	59350	broad.mit.edu	37	chr4	159559213	159559213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaccaatttgattatcTtgtcaaactcaagtctctgt	5	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:159559213T>C	uc003ipz.2	+	13	1107	c.1025T>C	c.(1024-1026)CTT>CCT	p.L342P	RXFP1_uc010iqj.1_Missense_Mutation_p.L171P|RXFP1_uc011cja.1_Missense_Mutation_p.L237P|RXFP1_uc010iqo.2_Intron|RXFP1_uc011cjb.1_Intron|RXFP1_uc010iqk.2_Missense_Mutation_p.L210P|RXFP1_uc011cjc.1_Missense_Mutation_p.L261P|RXFP1_uc011cjd.1_Missense_Mutation_p.L261P|RXFP1_uc010iql.2_Missense_Mutation_p.L186P|RXFP1_uc011cje.1_Missense_Mutation_p.L369P|RXFP1_uc010iqm.2_Missense_Mutation_p.L309P|RXFP1_uc011cjf.1_Missense_Mutation_p.L212P|RXFP1_uc010iqn.2_Missense_Mutation_p.L288P	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	342	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTTGATTATCTTGTCAAACTC	0.259													C	159559213	T	C	159559213	3	2	189	1	0	0	0	0	1	0	0	0	13759	1609	56	3	1075	3	RXFP1	4	159559213	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1865318	159559213	31595063	1363	99220											
RXFP1	59350	broad.mit.edu	37	chr4	159569818	159569818	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttactgatgcattatgctggAtacccatttttgtagtgaaa	8	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:159569818A>T	uc003ipz.2	+	17	2006	c.1924A>T	c.(1924-1926)ATA>TTA	p.I642L	RXFP1_uc011cja.1_Missense_Mutation_p.I537L|RXFP1_uc010iqo.2_Missense_Mutation_p.I594L|RXFP1_uc011cjb.1_Missense_Mutation_p.I540L|RXFP1_uc010iqk.2_Missense_Mutation_p.I510L|RXFP1_uc011cjc.1_Missense_Mutation_p.I561L|RXFP1_uc011cjd.1_Missense_Mutation_p.I561L|RXFP1_uc010iql.2_Missense_Mutation_p.I486L|RXFP1_uc011cje.1_Missense_Mutation_p.I669L|RXFP1_uc010iqm.2_Missense_Mutation_p.I609L|RXFP1_uc011cjf.1_Missense_Mutation_p.I511L|RXFP1_uc010iqn.2_Missense_Mutation_p.I587L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	642	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTATGCTGGATACCCATTTT	0.303													T	159569818	A	T	159569818	3	4	189	1	0	0	0	0	1	0	0	0	13759	333	12	5	1990	5	RXFP1	4	159569818	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	10605	159569818	31584458	1364	99221											
FNIP2	57600	broad.mit.edu	37	chr4	159780291	159780291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaaaattgccataAgcatcatcttttccctatgt	8	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:159780291A>G	uc003iqe.3	+	9	1123	c.940A>G	c.(940-942)AGC>GGC	p.S314G		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	314					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AATTGCCATAAGCATCATCTT	0.408													G	159780291	A	G	159780291	3	3	189	1	0	0	0	0	1	0	0	0	5976	72	3	3	974	3	FNIP2	4	159780291	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	210473	159780291	31373985	1365	99222											
FSTL5	56884	broad.mit.edu	37	chr4	162376252	162376252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtggatcgtgtggtgaGgcacattcccactggccagg	17	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:162376252G>T	uc003iqh.2	-	15	2181	c.1745C>A	c.(1744-1746)CCT>CAT	p.P582H	FSTL5_uc003iqi.2_Missense_Mutation_p.P581H|FSTL5_uc010iqv.2_Missense_Mutation_p.P572H	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	582						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGTGTGGTGAGGCACATTCCC	0.418													T	162376252	G	T	162376252	3	4	189	1	0	0	0	0	1	0	0	0	6080	1000	35	5	806	5	FSTL5	4	162376252	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2595961	162376252	28778024	1366	99223											
FSTL5	56884	broad.mit.edu	37	chr4	162459394	162459394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattctttgcgatacaAgtgtatgctccagtatcttc	7	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:162459394A>G	uc003iqh.2	-	10	1672	c.1236T>C	c.(1234-1236)ACT>ACC	p.T412T	FSTL5_uc003iqi.2_Silent_p.T411T|FSTL5_uc010iqv.2_Silent_p.T411T	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	412	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGCGATACAAGTGTATGCTC	0.413													G	162459394	A	G	162459394	2	3	189	1	0	0	0	0	0	0	0	1	6080	59	3	3		3	FSTL5	4	162459394	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	83142	162459394	28694882	1367	99224											
FSTL5	56884	broad.mit.edu	37	chr4	162463689	162463689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtaaaaagcaccttgaAgcgtgagttgtttggaaagc	12	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:162463689A>G	uc003iqh.2	-	9	1608	c.1172T>C	c.(1171-1173)CTT>CCT	p.L391P	FSTL5_uc003iqi.2_Missense_Mutation_p.L390P|FSTL5_uc010iqv.2_Missense_Mutation_p.L390P	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	391	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGCACCTTGAAGCGTGAGTTG	0.358													G	162463689	A	G	162463689	3	3	189	1	0	0	0	0	1	0	0	0	6080	72	3	3	1403	3	FSTL5	4	162463689	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4295	162463689	28690587	1368	99225											
FSTL5	56884	broad.mit.edu	37	chr4	162697185	162697185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgtaaatctaatagcaTatttttcatcttgctgtatt	4	5	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:162697185T>C	uc003iqh.2	-	5	887	c.451A>G	c.(451-453)ATG>GTG	p.M151V	FSTL5_uc003iqi.2_Missense_Mutation_p.M150V|FSTL5_uc010iqv.2_Missense_Mutation_p.M150V	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	151						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTAATAGCATATTTTTCATC	0.284													C	162697185	T	C	162697185	3	2	189	1	0	0	0	0	1	0	0	0	6080	1406	49	3	2140	3	FSTL5	4	162697185	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	233496	162697185	28457091	1369	99226											
TKTL2	84076	broad.mit.edu	37	chr4	164393014	164393014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagcctagtttacttcaTtaaagtaagtgttacggctg	8	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:164393014T>G	uc003iqp.3	-	1	2034	c.1873A>C	c.(1873-1875)ATG>CTG	p.M625L		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	625						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTTACTTCATTAAAGTAAGT	0.383													G	164393014	T	G	164393014	3	3	189	1	0	0	0	0	1	0	0	0	15933	1493	52	5	11	5	TKTL2	4	164393014	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1695829	164393014	26761262	1370	99227											
TKTL2	84076	broad.mit.edu	37	chr4	164394169	164394169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggcaactatagcagTaggcttgttcttcacttgac	10	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:164394169T>C	uc003iqp.3	-	1	879	c.718A>G	c.(718-720)ACT>GCT	p.T240A		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	240						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTATAGCAGTAGGCTTGTTC	0.458													C	164394169	T	C	164394169	3	2	189	1	0	0	0	0	1	0	0	0	15933	1638	57	3	1166	3	TKTL2	4	164394169	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1155	164394169	26760107	1371	99228											
KLHL2	11275	broad.mit.edu	37	chr4	166160048	166160048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttacagaagaaaatgtAcaggtaagagtaaacacttc	9	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:166160048A>G	uc003irb.2	+	4	637	c.378A>G	c.(376-378)GTA>GTG	p.V126V	KLHL2_uc011cjm.1_Silent_p.V130V|KLHL2_uc003irc.2_Silent_p.V38V	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	126					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	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)		AAGAAAATGTACAGGTAAGAG	0.348													G	166160048	A	G	166160048	2	3	189	1	0	0	0	0	0	0	0	1	8374	378	14	3		3	KLHL2	4	166160048	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1765879	166160048	24994228	1372	99229											
SC4MOL	6307	broad.mit.edu	37	chr4	166254547	166254547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaaatgaaagtgtcagcAtctttagttcagcatccttg	7	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:166254547A>G	uc003ire.2	+	2	155	c.25A>G	c.(25-27)ATC>GTC	p.I9V	SC4MOL_uc010irb.2_Missense_Mutation_p.I9V|SC4MOL_uc003irf.2_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	sterol-C4-methyl oxidase-like isoform 1	9					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding				0	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0875)	NADH(DB00157)	AAGTGTCAGCATCTTTAGTTC	0.333													G	166254547	A	G	166254547	3	3	189	1	0	0	0	0	1	0	0	0	13865	217	8	3	27	3	SC4MOL	4	166254547	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	94499	166254547	24899729	1373	99230											
DDX60	55601	broad.mit.edu	37	chr4	169146804	169146804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaaagcatcactaaaatcCtcagggagatcatcaaggaa	7	9	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:169146804C>A	uc003irp.2	-	34	4849	c.4557G>T	c.(4555-4557)GAG>GAT	p.E1519D	DDX60_uc003iro.2_Translation_Start_Site	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1519							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACTAAAATCCTCAGGGAGAT	0.353													A	169146804	C	A	169146804	3	1	189	1	0	0	0	0	1	0	0	0	4378	680	24	5	601	5	DDX60	4	169146804	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2892257	169146804	22007472	1374	99231											
DDX60L	91351	broad.mit.edu	37	chr4	169325220	169325220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatatcttttgaactagacAatgaatccggactaaggttc	7	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:169325220A>G	uc003irq.3	-	25	3472	c.3251T>C	c.(3250-3252)TTG>TCG	p.L1084S	DDX60L_uc003irr.1_Missense_Mutation_p.L1084S|DDX60L_uc003irs.1_Missense_Mutation_p.L779S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1084							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGAACTAGACAATGAATCCGG	0.289													G	169325220	A	G	169325220	3	3	189	1	0	0	0	0	1	0	0	0	4379	131	5	3	1925	3	DDX60L	4	169325220	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	178416	169325220	21829056	1375	99232											
PALLD	23022	broad.mit.edu	37	chr4	169845505	169845505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtcgtgtattgggagTgccaccacctcagatatttt	11	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:169845505T>C	uc011cjx.1	+	19	3369	c.3158T>C	c.(3157-3159)GTG>GCG	p.V1053A	CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.V1036A|PALLD_uc003irv.2_Missense_Mutation_p.V654A|PALLD_uc003irw.2_Missense_Mutation_p.V538A|PALLD_uc003irx.2_Missense_Mutation_p.V262A	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	1260	Ig-like C2-type 5.|Interaction with EZR.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTATTGGGAGTGCCACCACCT	0.468									Pancreatic_Cancer_Familial_Clustering_of				C	169845505	T	C	169845505	3	2	189	1	0	0	0	0	1	0	0	0	11407	1696	59	3	3735	3	PALLD	4	169845505	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	520285	169845505	21308771	1376	99233											
NEK1	4750	broad.mit.edu	37	chr4	170498105	170498105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttgcagtggtttctTttcgtgtaattttttatctc	7	5	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:170498105T>C	uc003isb.1	-	11	1486	c.994A>G	c.(994-996)AAG>GAG	p.K332E	NEK1_uc003isc.1_Missense_Mutation_p.K332E|NEK1_uc003isd.1_Missense_Mutation_p.K332E|NEK1_uc003ise.1_Missense_Mutation_p.K332E|NEK1_uc003isf.1_Missense_Mutation_p.K332E|NEK1_uc003isg.1_Missense_Mutation_p.K253E	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	332					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		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)		AGTGGTTTCTTTTCGTGTAAT	0.323													C	170498105	T	C	170498105	3	2	189	1	0	0	0	0	1	0	0	0	10321	1850	64	3	2878	3	NEK1	4	170498105	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	652600	170498105	20656171	1377	99234											
CLCN3	1182	broad.mit.edu	37	chr4	170618838	170618838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatatggcagttatgcctgGcactcatatttaaaatcata	6	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:170618838G>A	uc003isi.2	+	9	2025	c.1516G>A	c.(1516-1518)GCA>ACA	p.A506T	CLCN3_uc003ish.2_Missense_Mutation_p.A506T|CLCN3_uc011cjz.1_Missense_Mutation_p.A489T|CLCN3_uc011cka.1_Missense_Mutation_p.A479T|CLCN3_uc003isj.1_Missense_Mutation_p.A479T	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	506	Helical; (By similarity).				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(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTTATGCCTGGCACTCATATT	0.373													A	170618838	G	A	170618838	3	1	189	1	0	0	0	0	1	0	0	0	3464	1203	42	2	1546	2	CLCN3	4	170618838	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	120733	170618838	20535438	1378	99235											
MFAP3L	9848	broad.mit.edu	37	chr4	170913013	170913013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgatagtcctgcagTtcataatgagaggcggcaga	11	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:170913013T>C	uc003isp.3	-	3	924	c.746A>G	c.(745-747)AAC>AGC	p.N249S	MFAP3L_uc003isn.3_Missense_Mutation_p.N146S	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	249	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		AGTCCTGCAGTTCATAATGAG	0.557													C	170913013	T	C	170913013	3	2	189	1	0	0	0	0	1	0	0	0	9516	1725	60	3	487	3	MFAP3L	4	170913013	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	294175	170913013	20241263	1379	99236											
AADAT	51166	broad.mit.edu	37	chr4	170983111	170983111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggctaggagctgagctatCgacgtagaaagcatttccag	13	8	0	2	rs139598358		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:170983111C>T	uc003isr.2	-	12	1510	c.1168G>A	c.(1168-1170)GAT>AAT	p.D390N	AADAT_uc003iss.2_Missense_Mutation_p.D390N|AADAT_uc003ist.2_Missense_Mutation_p.D394N	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	390					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				0		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)	GCTGAGCTATCGACGTAGAAA	0.403													T	170983111	C	T	170983111	3	4	189	1	0	0	0	0	1	0	0	0	14	884	31	1	117	1	AADAT	4	170983111	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	70098	170983111	20171165	1380	99237											
GALNTL6	442117	broad.mit.edu	37	chr4	173232782	173232782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggaaaggtgaacatgggAaaccttacccccttactgaa	10	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:173232782A>G	uc003isv.2	+	4	1001	c.265A>G	c.(265-267)AAA>GAA	p.K89E		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	89	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TGAACATGGGAAACCTTACCC	0.388													G	173232782	A	G	173232782	3	3	189	1	0	0	0	0	1	0	0	0	6225	247	9	3	275	3	GALNTL6	4	173232782	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2249671	173232782	17921494	1381	99238											
GALNTL6	442117	broad.mit.edu	37	chr4	173873306	173873306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagaaggagctgcgcaAgcagctcaagtgcaaggact	13	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:173873306A>C	uc003isv.2	+	10	2004	c.1268A>C	c.(1267-1269)AAG>ACG	p.K423T		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	423	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						GAGCTGCGCAAGCAGCTCAAG	0.597													C	173873306	A	C	173873306	3	2	189	1	0	0	0	0	1	0	0	0	6225	72	3	5	1302	5	GALNTL6	4	173873306	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	640524	173873306	17280970	1382	99239											
GALNT7	51809	broad.mit.edu	37	chr4	174219377	174219377	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagcatgggattggagTatgctctggaaacgggtgcc	17	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:174219377T>C	uc003isz.3	+	6	1160	c.1077T>C	c.(1075-1077)AGT>AGC	p.S359S	GALNT7_uc011ckb.1_Intron	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	359	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)	1		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)		GGGATTGGAGTATGCTCTGGA	0.448													C	174219377	T	C	174219377	2	2	189	1	0	0	0	0	0	0	0	1	6218	1635	57	3		3	GALNT7	4	174219377	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	346071	174219377	16934899	1383	99240											
GALNT7	51809	broad.mit.edu	37	chr4	174242834	174242835	+	Frame_Shift_Ins	INS	-	-	A													gactccagtaaaacgactcaINSaaaatgggaaatgaataaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:174242833_174242834C>CA	uc003isz.4	+	11	2022_2023	c.1939_1940C>CA	c.(1939-1941)caafs	p.Q647fs	GALNT7_uc011ckb.2_Frame_Shift_Ins_p.Q424fs	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	647	Ricin B-type lectin.				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)		TAAAACGACTCAAAAATGGGAA	0.371													A	174242835	-	A	174242834	7	5	189	1	0	1	1	0	0	0	0	0	6218	130	5	0	1986	0	GALNT7	4	174242834	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	23457	174242834	16911442	1384	99241											
MORF4	10934	broad.mit.edu	37	chr4	174537650	174537650	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaggatctacctgggcccTtttctttcgaggaggctggg	14	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:174537650T>G	uc011cke.1	-	1	145	c.145A>C	c.(145-147)AGG>CGG	p.R49R		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-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)		ACCTGGGCCCTTTTCTTTCGA	0.403													G	174537650	T	G	174537650	2	3	189	1	0	0	0	0	0	0	0	1	9705	1608	56	5		5	MORF4	4	174537650	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	294816	174537650	16616626	1385	99242											
ADAM29	11086	broad.mit.edu	37	chr4	175897057	175897057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggttttcaaggaatattAcagataaatgactttgctta	10	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:175897057A>G	uc003iuc.2	+	5	1051	c.381A>G	c.(379-381)TTA>TTG	p.L127L	ADAM29_uc003iud.2_Silent_p.L127L|ADAM29_uc010irr.2_Silent_p.L127L|ADAM29_uc011cki.1_Silent_p.L127L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	127					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		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)		AAGGAATATTACAGATAAATG	0.403													G	175897057	A	G	175897057	2	3	189	1	0	0	0	0	0	0	0	1	247	388	14	3		3	ADAM29	4	175897057	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1359407	175897057	15257219	1386	99243											
ADAM29	11086	broad.mit.edu	37	chr4	175897485	175897485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatctgtgcacctgtattGcaagtggaagtcggagaaca	12	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:175897485G>A	uc003iuc.2	+	5	1479	c.809G>A	c.(808-810)TGC>TAC	p.C270Y	ADAM29_uc003iud.2_Missense_Mutation_p.C270Y|ADAM29_uc010irr.2_Missense_Mutation_p.C270Y|ADAM29_uc011cki.1_Missense_Mutation_p.C270Y	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	270	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		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)		CACCTGTATTGCAAGTGGAAG	0.413													A	175897485	G	A	175897485	3	1	189	1	0	0	0	0	1	0	0	0	247	1319	46	2	811	2	ADAM29	4	175897485	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	428	175897485	15256791	1387	99244											
ODZ3	55714	broad.mit.edu	37	chr4	183603166	183603166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcccagactgctcaaaCggtgaggttaataaatgcag	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:183603166C>T	uc003ivd.1	+	10	2071	c.2034C>T	c.(2032-2034)AAC>AAT	p.N678N	ODZ3_uc003ive.1_Silent_p.N84N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	678	Extracellular (Potential).|EGF-like 6.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACTGCTCAAACGGTGAGGTTA	0.433													T	183603166	C	T	183603166	2	4	189	1	0	0	0	0	0	0	0	1	10836	550	19	1		1	ODZ3	4	183603166	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7705681	183603166	7551110	1388	99245											
ODZ3	55714	broad.mit.edu	37	chr4	183664498	183664498	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgggatcgatggcagTctgtacgtaggcgatttcaa	14	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:183664498T>A	uc003ivd.1	+	18	3592	c.3555T>A	c.(3553-3555)AGT>AGA	p.S1185R	ODZ3_uc003ive.1_Missense_Mutation_p.S591R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1185	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCGATGGCAGTCTGTACGTAG	0.493													A	183664498	T	A	183664498	3	1	189	1	0	0	0	0	1	0	0	0	10836	1664	58	5	3625	5	ODZ3	4	183664498	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	61332	183664498	7489778	1389	99246											
ODZ3	55714	broad.mit.edu	37	chr4	183675540	183675540	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctttttttattaaggtAcgtctggaatggcccactga	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:183675540A>G	uc003ivd.1	+	21	4057	c.4020A>G	c.(4018-4020)GTA>GTG	p.V1340V	ODZ3_uc003ive.1_Silent_p.V753V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1340	Extracellular (Potential).|NHL 3.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTATTAAGGTACGTCTGGAAT	0.378													G	183675540	A	G	183675540	2	3	189	1	0	0	0	0	0	0	0	1	10836	378	14	3		3	ODZ3	4	183675540	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11042	183675540	7478736	1390	99247											
ODZ3	55714	broad.mit.edu	37	chr4	183710405	183710405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgatggccgtcaatgtcAcctattcatccacaggtcaa	8	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:183710405A>G	uc003ivd.1	+	24	5501	c.5464A>G	c.(5464-5466)ACC>GCC	p.T1822A		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1822	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGTCAATGTCACCTATTCATC	0.542													G	183710405	A	G	183710405	3	3	189	1	0	0	0	0	1	0	0	0	10836	159	6	3	5558	3	ODZ3	4	183710405	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	34865	183710405	7443871	1391	99248											
ODZ3	55714	broad.mit.edu	37	chr4	183721189	183721189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgcgcaggttcgcggaCgtggagatgcagttcggcgc	18	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:183721189C>T	uc003ivd.1	+	27	7822	c.7785C>T	c.(7783-7785)GAC>GAT	p.D2595D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2595	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGTTCGCGGACGTGGAGATGC	0.697													T	183721189	C	T	183721189	2	4	189	1	0	0	0	0	0	0	0	1	10836	535	19	1		1	ODZ3	4	183721189	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10784	183721189	7433087	1392	99249											
CCDC111	201973	broad.mit.edu	37	chr4	185593425	185593425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggccatggatttccccatTtttcagaagcacctgcaaga	8	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:185593425T>C	uc003iwk.2	+	7	1088	c.655T>C	c.(655-657)TTT>CTT	p.F219L	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.F219L|CCDC111_uc003iwl.2_Missense_Mutation_p.F219L|CCDC111_uc003iwm.2_Missense_Mutation_p.F90L|CCDC111_uc003iwn.2_Missense_Mutation_p.F44L	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	219					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		ATTTCCCCATTTTTCAGAAGC	0.413													C	185593425	T	C	185593425	3	2	189	1	0	0	0	0	1	0	0	0	2748	1841	64	3	673	3	CCDC111	4	185593425	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1872236	185593425	5560851	1393	99250											
HELT	391723	broad.mit.edu	37	chr4	185940960	185940960	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgttcagtacctgagagcActgcactccgctgattttcc	8	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:185940960A>G	uc011ckq.1	+	3	447	c.447A>G	c.(445-447)GCA>GCG	p.A149A	HELT_uc011cko.1_Silent_p.A64A|HELT_uc003ixa.3_Silent_p.A64A|HELT_uc011ckp.1_Silent_p.A8A	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	149	Helix-loop-helix motif.						DNA binding				0		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)		ACCTGAGAGCACTGCACTCCG	0.642													G	185940960	A	G	185940960	2	3	189	1	0	0	0	0	0	0	0	1	7048	146	6	3		3	HELT	4	185940960	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	347535	185940960	5213316	1394	99251											
SNX25	83891	broad.mit.edu	37	chr4	186274723	186274723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctgaaccatgtttcAtgttgattggggagattttt	11	6	1	3	rs149097763		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:186274723A>G	uc003ixh.2	+	15	2248	c.2059A>G	c.(2059-2061)ATG>GTG	p.M687V	SNX25_uc010ish.2_Missense_Mutation_p.M403V|SNX25_uc003ixi.2_Missense_Mutation_p.M191V	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	687					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		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)		ACCATGTTTCATGTTGATTGG	0.408													G	186274723	A	G	186274723	3	3	189	1	0	0	0	0	1	0	0	0	14896	217	8	3	2113	3	SNX25	4	186274723	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	333763	186274723	4879553	1395	99252											
PDLIM3	27295	broad.mit.edu	37	chr4	186435463	186435463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaggtttgggccgaataTtatgcttgtgttcaaagtag	12	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:186435463T>C	uc003ixw.3	-	4	483	c.359A>G	c.(358-360)AAT>AGT	p.N120S	PDLIM3_uc003ixx.3_Intron|PDLIM3_uc010isi.2_Intron|PDLIM3_uc003ixy.2_Missense_Mutation_p.I183V|PDLIM3_uc003ixz.2_Missense_Mutation_p.I183V	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	120						sarcomere	zinc ion binding			ovary(2)	2		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)		GGGCCGAATATTATGCTTGTG	0.458													C	186435463	T	C	186435463	3	2	189	1	0	0	0	0	1	0	0	0	11681	1493	52	3	755	3	PDLIM3	4	186435463	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	160740	186435463	4718813	1396	99253											
SORBS2	8470	broad.mit.edu	37	chr4	186533064	186533064	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacagggaagatgccttgtCtgttggttcctgggatttta	12	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:186533064C>A	uc003iyl.2	-	18	3812	c.2954G>T	c.(2953-2955)AGA>ATA	p.R985I	SORBS2_uc003iyh.2_Missense_Mutation_p.R709I|SORBS2_uc011ckw.1_Missense_Mutation_p.R546I|SORBS2_uc003iyi.2_Missense_Mutation_p.R616I|SORBS2_uc011ckx.1_Missense_Mutation_p.R551I|SORBS2_uc003iyk.2_Missense_Mutation_p.R529I|SORBS2_uc003iym.2_Missense_Mutation_p.R1085I|SORBS2_uc003iyn.1_Missense_Mutation_p.R576I|SORBS2_uc011cku.1_Missense_Mutation_p.R377I|SORBS2_uc011ckv.1_Missense_Mutation_p.R889I|SORBS2_uc003iyd.2_Missense_Mutation_p.R684I|SORBS2_uc003iye.2_Missense_Mutation_p.R558I|SORBS2_uc003iya.2_Missense_Mutation_p.R505I|SORBS2_uc003iyb.2_Missense_Mutation_p.R458I|SORBS2_uc003iyc.2_Missense_Mutation_p.R438I|SORBS2_uc003iyg.2_Missense_Mutation_p.R1099I|SORBS2_uc003iyf.2_Missense_Mutation_p.R521I|SORBS2_uc003iyo.1_Missense_Mutation_p.R434I	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	985	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		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)		GATGCCTTGTCTGTTGGTTCC	0.413													A	186533064	C	A	186533064	3	1	189	1	0	0	0	0	1	0	0	0	14928	913	32	5	364	5	SORBS2	4	186533064	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	97601	186533064	4621212	1397	99254											
SORBS2	8470	broad.mit.edu	37	chr4	186544622	186544622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgatgaggtggcggTggtggtggtggtggtgatgg	24	2	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:186544622T>C	uc003iyl.2	-	13	2807	c.1949A>G	c.(1948-1950)CAC>CGC	p.H650R	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.H750R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.H554R|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.H764R|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	650	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		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)		GAggtggcggtggtggtggtg	0.383													C	186544622	T	C	186544622	3	2	189	1	0	0	0	0	1	0	0	0	14928	1696	59	3	1389	3	SORBS2	4	186544622	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11558	186544622	4609654	1398	99255											
TLR3	7098	broad.mit.edu	37	chr4	187000110	187000110	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaataaaattcaagcgctAaaaagtgaagaactggatat	7	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:187000110A>G	uc003iyq.2	+	3	659	c.558A>G	c.(556-558)CTA>CTG	p.L186L	TLR3_uc011ckz.1_5'Flank	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	186	Lumenal (Potential).|LRR 6.				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			ovary(2)|prostate(1)|lung(1)|breast(1)	5		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)		TTCAAGCGCTAAAAAGTGAAG	0.308													G	187000110	A	G	187000110	2	3	189	1	0	0	0	0	0	0	0	1	15949	349	13	3		3	TLR3	4	187000110	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	455488	187000110	4154166	1399	99256											
TLR3	7098	broad.mit.edu	37	chr4	187005313	187005313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccatctattaaaagacCcattatgcaaaaggtaggta	6	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:187005313C>T	uc003iyq.2	+	4	2574	c.2473C>T	c.(2473-2475)CCA>TCA	p.P825S	TLR3_uc011ckz.1_Missense_Mutation_p.P548S|TLR3_uc003iyr.2_Missense_Mutation_p.P548S	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	825	Cytoplasmic (Potential).|TIR.				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			ovary(2)|prostate(1)|lung(1)|breast(1)	5		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)		ATTAAAAGACCCATTATGCAA	0.254													T	187005313	C	T	187005313	3	4	189	1	0	0	0	0	1	0	0	0	15949	623	22	4	2483	4	TLR3	4	187005313	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5203	187005313	4148963	1400	99257											
FAT1	2195	broad.mit.edu	37	chr4	187549306	187549306	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaaggctccaaaagtAcctgactcgatcgagtacag	9	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:187549306A>G	uc003izf.2	-	9	4998	c.4810_splice	c.e9+1	p.G1604_splice		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor						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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTCCAAAAGTACCTGACTCGA	0.423										HNSCC(5;0.00058)			G	187549306	A	G	187549306	5	3	189	1	0	0	0	0	0	0	1	0	5689	405	14	3	9030	3	FAT1	4	187549306	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	543993	187549306	3604970	1401	99258											
FAT1	2195	broad.mit.edu	37	chr4	187630605	187630605	+	Frame_Shift_Del	DEL	T	T	-													ttcgcgcctccacattagtaTttttttcaagtgctttcact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr4:187630604_187630604AT>A	uc003izf.3	-	1	566	c.378_378AT>T	c.(376-378)aatfs	p.N126fs	FAT1_uc010iso.1_Frame_Shift_Del_p.N126fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	126	Cadherin 1.				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						CCACATTAGTATTTTTTTCAA	0.408										HNSCC(5;0.00058)			-	187630605	T	-	187630605	7	5	189	1	0	1	0	1	0	0	0	0	5689	1493	52	0	13493	0	FAT1	4	187630605	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	81299	187630605	3523671	1402	99259											
SDHA	6389	broad.mit.edu	37	chr5	240561	240561	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgatggaagcataagAacatcggaactgcgactcag	11	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:240561A>G	uc003jao.3	+	11	1636	c.1521A>G	c.(1519-1521)AGA>AGG	p.R507R	SDHA_uc011clv.1_Silent_p.R507R|SDHA_uc011clw.1_Silent_p.R459R|SDHA_uc003jap.3_Silent_p.R507R|SDHA_uc003jaq.3_Silent_p.R282R|SDHA_uc003jar.3_Silent_p.R101R	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	507					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				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAGCATAAGAACATCGGAAC	0.453									Familial_Paragangliomas				G	240561	A	G	240561	2	3	189	1	0	0	0	0	0	0	0	1	13963	243	9	3		3	SDHA	5	240561	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08		240561	180674699	1403	99260											
CEP72	55722	broad.mit.edu	37	chr5	635582	635582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagcagctgcagagggTgctgtctggagaagatgcct	18	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:635582T>C	uc003jbf.2	+	6	859	c.787T>C	c.(787-789)TGC>CGC	p.C263R	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	263					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CTGCAGAGGGTGCTGTCTGGA	0.612													C	635582	T	C	635582	3	2	189	1	0	0	0	0	1	0	0	0	3260	1696	59	3	809	3	CEP72	5	635582	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	395021	635582	180279678	1404	99261											
TPPP	11076	broad.mit.edu	37	chr5	678016	678016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcaaagcgccggaaggCctcctccagggcactgagct	13	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:678016C>T	uc003jbg.3	-	1	878	c.160G>A	c.(160-162)GCC>ACC	p.A54T	TPPP_uc003jbh.3_Missense_Mutation_p.A54T	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	54	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGCCGGAAGGCCTCCTCCAGG	0.677													T	678016	C	T	678016	3	4	189	1	0	0	0	0	1	0	0	0	16410	739	26	2	511	2	TPPP	5	678016	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	42434	678016	180237244	1405	99262											
TRIP13	9319	broad.mit.edu	37	chr5	908157	908157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggatttgattgatgatAaagacgccctggtgttcgtg	12	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:908157A>G	uc003jbr.2	+	8	837	c.727A>G	c.(727-729)AAA>GAA	p.K243E	TRIP13_uc010ite.1_Missense_Mutation_p.K243E	NM_004237	NP_004228	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	243					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GATTGATGATAAAGACGCCCT	0.463													G	908157	A	G	908157	3	3	189	1	0	0	0	0	1	0	0	0	16554	363	13	3	757	3	TRIP13	5	908157	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	230141	908157	180007103	1406	99263											
TRIP13	9319	broad.mit.edu	37	chr5	916037	916037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagagcgagggcctcagCggccgggtcctgagaaaact	16	10	1	2	rs147247158		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:916037C>T	uc003jbr.2	+	12	1262	c.1152C>T	c.(1150-1152)AGC>AGT	p.S384S		NM_004237	NP_004228	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	384					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AGGGCCTCAGCGGCCGGGTCC	0.537													T	916037	C	T	916037	2	4	189	1	0	0	0	0	0	0	0	1	16554	767	27	1		1	TRIP13	5	916037	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7880	916037	179999223	1407	99264											
NKD2	85409	broad.mit.edu	37	chr5	1037966	1037966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccccagggcagggcctcGcacctccaggcccggtcccg	14	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:1037966G>A	uc003jbt.1	+	10	839	c.834G>A	c.(832-834)TCG>TCA	p.S278S	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	278					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	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)			GCAGGGCCTCGCACCTCCAGG	0.667													A	1037966	G	A	1037966	2	1	189	1	0	0	0	0	0	0	0	1	10442	1074	38	1		1	NKD2	5	1037966	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	121929	1037966	179877294	1408	99265											
SLC12A7	10723	broad.mit.edu	37	chr5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-													tcacctccagttcttggtgtGggggggaccgtgctccacgc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					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)	GTTCTTGGTGTGGGGGGGACC	0.647													-	1074698	G	-	1074698	7	5	189	1	0	1	0	1	0	0	0	0	14388	1348	47	0	1231	0	SLC12A7	5	1074698	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	36732	1074698	179840562	1409	99266											
SLC6A19	340024	broad.mit.edu	37	chr5	1221330	1221330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggcaagtcacgtggCgcgtggtcagccccctgctc	12	15	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:1221330C>T	uc003jbw.3	+	11	1659	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	535	Helical; Name=11; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	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)			AGTCACGTGGCGCGTGGTCAG	0.557													T	1221330	C	T	1221330	3	4	189	1	0	0	0	0	1	0	0	0	14682	768	27	1	1645	1	SLC6A19	5	1221330	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	146632	1221330	179693930	1410	99267											
CLPTM1L	81037	broad.mit.edu	37	chr5	1331946	1331946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgccgatcatgctcttcTtcttcttccagaaactgatg	6	12	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:1331946T>C	uc003jch.2	-	8	990	c.944A>G	c.(943-945)AAG>AGG	p.K315R	CLPTM1L_uc003jcg.2_Missense_Mutation_p.K182R	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	315	Cytoplasmic (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	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)		CATGCTCTTCTTCTTCTTCCA	0.527													C	1331946	T	C	1331946	3	2	189	1	0	0	0	0	1	0	0	0	3555	1609	56	3	712	3	CLPTM1L	5	1331946	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	110616	1331946	179583314	1411	99268											
IRX4	50805	broad.mit.edu	37	chr5	1880905	1880905	+	Frame_Shift_Del	DEL	C	C	-													cggcagcggctggtgccaggCccccatgcgcagatcccgaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:1880904_1880904GC>G	uc003jcz.2	-	2	461	c.342_342GC>C	c.(340-342)ggcfs	p.G114fs	IRX4_uc011cmf.1_5'UTR	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	114					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)		CTGGTGCCAGGCCCCCATGCG	0.627													-	1880905	C	-	1880905	7	5	189	1	0	1	0	1	0	0	0	0	7846	739	26	0	1230	0	IRX4	5	1880905	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	548959	1880905	179034355	1412	99269											
IRX1	79192	broad.mit.edu	37	chr5	3600153	3600153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctagccacggactgtAcacctgccacatcggcaagt	9	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:3600153A>G	uc003jde.2	+	2	1143	c.1091A>G	c.(1090-1092)TAC>TGC	p.Y364C		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	364						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CACGGACTGTACACCTGCCAC	0.483													G	3600153	A	G	3600153	3	3	189	1	0	0	0	0	1	0	0	0	7843	391	14	3	1097	3	IRX1	5	3600153	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1719248	3600153	177315107	1413	99270											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235263	5235263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcagacgattcagagggCggcactacaagtggaagcct	13	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:5235263C>T	uc003jdl.2	+	13	2125	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R663W|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	663	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						ATTCAGAGGGCGGCACTACAA	0.478													T	5235263	C	T	5235263	3	4	189	1	0	0	0	0	1	0	0	0	261	759	27	1	2037	1	ADAMTS16	5	5235263	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1635110	5235263	175679997	1414	99271											
KIAA0947	23379	broad.mit.edu	37	chr5	5473675	5473675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttcatttgctagaatgCcccggtagatgttggcttca	9	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:5473675C>T	uc003jdm.3	+	16	6449	c.6227C>T	c.(6226-6228)GCC>GTC	p.A2076V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2076										ovary(1)|central_nervous_system(1)	2						TGCTAGAATGCCCCGGTAGAT	0.333													T	5473675	C	T	5473675	3	4	189	1	0	0	0	0	1	0	0	0	8202	739	26	2	6289	2	KIAA0947	5	5473675	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	238412	5473675	175441585	1415	99272											
FASTKD3	79072	broad.mit.edu	37	chr5	7867338	7867338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggactcaggttggaaactaTtgatagggaaaagttgttta	12	3	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:7867338T>C	uc003jeb.2	-	2	996	c.859A>G	c.(859-861)ATA>GTA	p.I287V	FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	287					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						TTGGAAACTATTGATAGGGAA	0.373													C	7867338	T	C	7867338	3	2	189	1	0	0	0	0	1	0	0	0	5687	1493	52	3	1153	3	FASTKD3	5	7867338	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2393663	7867338	173047922	1416	99273											
SEMA5A	9037	broad.mit.edu	37	chr5	9136697	9136697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttcttcattaccacatcCcagccacagtaagggtcctg	6	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:9136697C>A	uc003jek.2	-	13	2230	c.1518G>T	c.(1516-1518)TGG>TGT	p.W506C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	506	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TTACCACATCCCAGCCACAGT	0.532													A	9136697	C	A	9136697	3	1	189	1	0	0	0	0	1	0	0	0	14037	624	22	5	1750	5	SEMA5A	5	9136697	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1269359	9136697	171778563	1417	99274											
CTNND2	1501	broad.mit.edu	37	chr5	11023012	11023012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctgtcactgtgtcatcCgacatggccttgcttgcagt	10	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:11023012C>T	uc003jfa.1	-	17	3013	c.2868G>A	c.(2866-2868)TCG>TCA	p.S956S	CTNND2_uc010itt.2_Silent_p.S865S|CTNND2_uc011cmy.1_Silent_p.S619S|CTNND2_uc011cmz.1_Silent_p.S523S|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.S548S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	956					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CTGTGTCATCCGACATGGCCT	0.517													T	11023012	C	T	11023012	2	4	189	1	0	0	0	0	0	0	0	1	4020	639	23	1		1	CTNND2	5	11023012	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1886315	11023012	169892248	1418	99275											
CTNND2	1501	broad.mit.edu	37	chr5	11199700	11199700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttctcagagctccacagGcactacggtggacttcggtc	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:11199700G>A	uc003jfa.1	-	11	1980	c.1835C>T	c.(1834-1836)GCC>GTC	p.A612V	CTNND2_uc010itt.2_Missense_Mutation_p.A521V|CTNND2_uc011cmy.1_Missense_Mutation_p.A275V|CTNND2_uc011cmz.1_Missense_Mutation_p.A179V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.A179V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	612	ARM 3.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						AGCTCCACAGGCACTACGGTG	0.512													A	11199700	G	A	11199700	3	1	189	1	0	0	0	0	1	0	0	0	4020	1203	42	2	1890	2	CTNND2	5	11199700	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	176688	11199700	169715560	1419	99276											
DNAH5	1767	broad.mit.edu	37	chr5	13721260	13721260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagacagatgagtggcGtccgtggatcagattcctcc	13	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:13721260G>A	uc003jfd.2	-	71	12170	c.12128C>T	c.(12127-12129)ACG>ATG	p.T4043M	DNAH5_uc003jfc.2_Missense_Mutation_p.T211M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4043	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GATGAGTGGCGTCCGTGGATC	0.498									Kartagener_syndrome				A	13721260	G	A	13721260	3	1	189	1	0	0	0	0	1	0	0	0	4604	1145	40	1	1782	1	DNAH5	5	13721260	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2521560	13721260	167194000	1420	99277											
DNAH5	1767	broad.mit.edu	37	chr5	13753633	13753633	+	Frame_Shift_Del	DEL	A	A	-													aatggaccagaataagatagAaaagctgtagccaacagtac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:13753632_13753632GA>G	uc003jfd.2	-	62	10624	c.10582_10582TC>C	c.(10582-10584)ctafs	p.L3528fs	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3528					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)					GAATAAGATAGAAAAGCTGTA	0.363									Kartagener syndrome				-	13753633	A	-	13753633	7	5	189	1	0	1	0	1	0	0	0	0	4604	243	9	0	3361	0	DNAH5	5	13753633	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	32373	13753633	167161627	1421	99278											
DNAH5	1767	broad.mit.edu	37	chr5	13923452	13923452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaagaacacacatacCccagtaagagccacatcgtt	7	12	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:13923452C>T	uc003jfd.2	-	4	417	c.375G>A	c.(373-375)GGG>GGA	p.G125G	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ACACACATACCCCAGTAAGAG	0.468									Kartagener_syndrome				T	13923452	C	T	13923452	2	4	189	1	0	0	0	0	0	0	0	1	4604	610	22	4		4	DNAH5	5	13923452	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	169819	13923452	166991808	1422	99279											
FAM105B	90268	broad.mit.edu	37	chr5	14692970	14692970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttcccaggttgaaaTgttccttcttgcctatgctg	7	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:14692970T>C	uc003jfk.2	+	7	1024	c.872T>C	c.(871-873)ATG>ACG	p.M291T		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	291										ovary(2)	2	Lung NSC(4;0.00696)					CAGGTTGAAATGTTCCTTCTT	0.507													C	14692970	T	C	14692970	3	2	189	1	0	0	0	0	1	0	0	0	5388	1464	51	3	898	3	FAM105B	5	14692970	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	769518	14692970	166222290	1423	99280											
FBXL7	23194	broad.mit.edu	37	chr5	15928130	15928130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccggggagacggtggccAtggtgcactccccgcccccg	14	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:15928130A>G	uc003jfn.1	+	3	740	c.259A>G	c.(259-261)ATG>GTG	p.M87V		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	87					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GACGGTGGCCATGGTGCACTC	0.667													G	15928130	A	G	15928130	3	3	189	1	0	0	0	0	1	0	0	0	5724	217	8	3	269	3	FBXL7	5	15928130	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1235160	15928130	164987130	1424	99281											
FBXL7	23194	broad.mit.edu	37	chr5	15928377	15928377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcaacgtggaccgcgCcctcaaggtgctgacccgca	11	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:15928377C>T	uc003jfn.1	+	3	987	c.506C>T	c.(505-507)GCC>GTC	p.A169V		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	169					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GTGGACCGCGCCCTCAAGGTG	0.662													T	15928377	C	T	15928377	3	4	189	1	0	0	0	0	1	0	0	0	5724	739	26	2	516	2	FBXL7	5	15928377	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	247	15928377	164986883	1425	99282											
MYO10	4651	broad.mit.edu	37	chr5	16670845	16670845	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggatcctgtccggaagctCcgcctcagggtcccctctag	11	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:16670845C>T	uc003jft.3	-	39	6141	c.5673G>A	c.(5671-5673)CGG>CGA	p.R1891R	MYO10_uc011cnb.1_Silent_p.R520R|MYO10_uc011cnc.1_Silent_p.R770R|MYO10_uc011cnd.1_Silent_p.R1248R|MYO10_uc011cne.1_Silent_p.R1248R|MYO10_uc010itx.2_Silent_p.R1513R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1891	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TCCGGAAGCTCCGCCTCAGGG	0.582													T	16670845	C	T	16670845	2	4	189	1	0	0	0	0	0	0	0	1	10062	842	30	4		4	MYO10	5	16670845	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	742468	16670845	164244415	1426	99283											
CDH18	1016	broad.mit.edu	37	chr5	19520773	19520773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaattaacttacctggccaGgcttagaattttcacataca	5	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:19520773G>T	uc003jgc.2	-	9	1882	c.1505C>A	c.(1504-1506)CCT>CAT	p.P502H	CDH18_uc003jgd.2_Missense_Mutation_p.P502H|CDH18_uc011cnm.1_Missense_Mutation_p.P502H	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	502	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TACCTGGCCAGGCTTAGAATT	0.398													T	19520773	G	T	19520773	3	4	189	1	0	0	0	0	1	0	0	0	3103	1000	35	5	883	5	CDH18	5	19520773	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2849928	19520773	161394487	1427	99284											
CDH10	1008	broad.mit.edu	37	chr5	24488256	24488256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagctgcaaacagtactActataacttgaaaaaagaca	6	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:24488256A>G	uc003jgr.1	-	12	2215	c.1883T>C	c.(1882-1884)GTA>GCA	p.V628A	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	628	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AAACAGTACTACTATAACTTG	0.353										HNSCC(23;0.051)			G	24488256	A	G	24488256	3	3	189	1	0	0	0	0	1	0	0	0	3096	391	14	3	487	3	CDH10	5	24488256	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4967483	24488256	156427004	1428	99285											
CDH10	1008	broad.mit.edu	37	chr5	24593567	24593567	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaggcatacccagaaTagaaacagtagcaaaaattg	10	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:24593567T>A	uc003jgr.1	-	2	365	c.33A>T	c.(31-33)CTA>CTT	p.L11L	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	11					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ATACCCAGAATAGAAACAGTA	0.408										HNSCC(23;0.051)			A	24593567	T	A	24593567	2	1	189	1	0	0	0	0	0	0	0	1	3096	1393	49	5		5	CDH10	5	24593567	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	105311	24593567	156321693	1429	99286											
CDH9	1007	broad.mit.edu	37	chr5	26885845	26885845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattatcgcaggcacacacaCggatagtgagtgtaccagtg	12	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:26885845C>T	uc003jgs.1	-	11	1929	c.1760G>A	c.(1759-1761)CGT>CAT	p.R587H	CDH9_uc011cnv.1_Missense_Mutation_p.R180H	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	587	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GGCACACACACGGATAGTGAG	0.483													T	26885845	C	T	26885845	3	4	189	1	0	0	0	0	1	0	0	0	3117	536	19	1	617	1	CDH9	5	26885845	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2292278	26885845	154029415	1430	99287											
CDH6	1004	broad.mit.edu	37	chr5	31305309	31305309	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaaagaagaaagtgtAtacccttaaagtggaagcct	9	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:31305309A>T	uc003jhe.1	+	7	1354	c.1028A>T	c.(1027-1029)TAT>TTT	p.Y343F	CDH6_uc003jhd.1_Missense_Mutation_p.Y343F	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	343	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AAGAAAGTGTATACCCTTAAA	0.453													T	31305309	A	T	31305309	3	4	189	1	0	0	0	0	1	0	0	0	3114	449	16	5	1050	5	CDH6	5	31305309	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4419464	31305309	149609951	1431	99288											
PDZD2	23037	broad.mit.edu	37	chr5	32052721	32052721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctgacttttaggaatAccacattgtgaagaagtcta	10	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:32052721A>G	uc003jhl.2	+	9	2058	c.1670A>G	c.(1669-1671)TAC>TGC	p.Y557C	PDZD2_uc003jhm.2_Missense_Mutation_p.Y557C|PDZD2_uc011cnx.1_Missense_Mutation_p.Y383C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	557					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TTTTAGGAATACCACATTGTG	0.443													G	32052721	A	G	32052721	3	3	189	1	0	0	0	0	1	0	0	0	11701	391	14	3	1700	3	PDZD2	5	32052721	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	747412	32052721	148862539	1432	99289											
PDZD2	23037	broad.mit.edu	37	chr5	32061149	32061149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaactccgtcaacgtccGccatgctgctttaagcaaag	9	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:32061149G>A	uc003jhl.2	+	14	2748	c.2360G>A	c.(2359-2361)CGC>CAC	p.R787H	PDZD2_uc003jhm.2_Missense_Mutation_p.R787H|PDZD2_uc011cnx.1_Missense_Mutation_p.R613H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	787	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GTCAACGTCCGCCATGCTGCT	0.537													A	32061149	G	A	32061149	3	1	189	1	0	0	0	0	1	0	0	0	11701	1087	38	1	2410	1	PDZD2	5	32061149	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	8428	32061149	148854111	1433	99290											
ZFR	51663	broad.mit.edu	37	chr5	32390499	32390499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatcatcccaatgatgtTgttcttcctccattctcctc	6	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:32390499T>C	uc003jhr.1	-	12	2104	c.2024A>G	c.(2023-2025)CAA>CGA	p.Q675R	ZFR_uc011cny.1_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	675					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		CCAATGATGTTGTTCTTCCTC	0.478													C	32390499	T	C	32390499	3	2	189	1	0	0	0	0	1	0	0	0	17656	1812	63	3	1236	3	ZFR	5	32390499	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	329350	32390499	148524761	1434	99291											
NPR3	4883	broad.mit.edu	37	chr5	32712294	32712294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggccagtgtgcgagTatgcagcagcgccagtggcc	16	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:32712294T>C	uc003jhv.2	+	1	630	c.412T>C	c.(412-414)TAT>CAT	p.Y138H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.Y138H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	138	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AGTGTGCGAGTATGCAGCAGC	0.672													C	32712294	T	C	32712294	3	2	189	1	0	0	0	0	1	0	0	0	10596	1638	57	3	414	3	NPR3	5	32712294	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	321795	32712294	148202966	1435	99292											
NPR3	4883	broad.mit.edu	37	chr5	32712393	32712393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacaaggactctgagTactcgcacctcacgcgcgtg	10	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:32712393T>C	uc003jhv.2	+	1	729	c.511T>C	c.(511-513)TAC>CAC	p.Y171H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.Y171H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	171	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GGACTCTGAGTACTCGCACCT	0.677													C	32712393	T	C	32712393	3	2	189	1	0	0	0	0	1	0	0	0	10596	1638	57	3	513	3	NPR3	5	32712393	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	99	32712393	148202867	1436	99293											
TARS	6897	broad.mit.edu	37	chr5	33457407	33457407	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagatatggagactctcCagagaatttatggcatttca	9	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:33457407C>T	uc003jhy.2	+	9	1178	c.883C>T	c.(883-885)CAG>TAG	p.Q295*	TARS_uc011cob.1_Nonsense_Mutation_p.Q283*|TARS_uc010iup.1_Nonsense_Mutation_p.Q236*|TARS_uc011coc.1_Nonsense_Mutation_p.Q316*|TARS_uc003jhz.2_Nonsense_Mutation_p.Q191*|TARS_uc011cod.1_Nonsense_Mutation_p.Q174*	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	295					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	GGAGACTCTCCAGAGAATTTA	0.388													T	33457407	C	T	33457407	4	4	189	1	0	0	0	0	0	1	0	0	15556	595	21	4	917	4	TARS	5	33457407	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	745014	33457407	147457853	1437	99294											
ADAMTS12	81792	broad.mit.edu	37	chr5	33751615	33751615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttcttcacgggttcAatgaaaaagtctccatgtgg	11	8	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:33751615A>G	uc003jia.1	-	3	691	c.528T>C	c.(526-528)ATT>ATC	p.I176I	ADAMTS12_uc010iuq.1_Silent_p.I176I|ADAMTS12_uc003jib.1_Silent_p.I176I	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	176					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCACGGGTTCAATGAAAAAGT	0.413										HNSCC(64;0.19)			G	33751615	A	G	33751615	2	3	189	1	0	0	0	0	0	0	0	1	257	126	5	3		3	ADAMTS12	5	33751615	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	294208	33751615	147163645	1438	99295											
RAI14	26064	broad.mit.edu	37	chr5	34824309	34824309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcaatggtacctcggtctTcctatgaaaaactccagtca	7	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:34824309T>C	uc003jir.2	+	15	2558	c.2362T>C	c.(2362-2364)TCC>CCC	p.S788P	RAI14_uc010iur.2_Missense_Mutation_p.S759P|RAI14_uc011coj.1_Missense_Mutation_p.S788P|RAI14_uc003jis.2_Missense_Mutation_p.S791P|RAI14_uc003jit.2_Missense_Mutation_p.S788P|RAI14_uc011cok.1_Missense_Mutation_p.S780P	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	788	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					ACCTCGGTCTTCCTATGAAAA	0.428													C	34824309	T	C	34824309	3	2	189	1	0	0	0	0	1	0	0	0	13008	1783	62	3	2481	3	RAI14	5	34824309	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1072694	34824309	146090951	1439	99296											
AGXT2	64902	broad.mit.edu	37	chr5	35026572	35026572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacagatgtgctcagcgtAtctttgaattgctcaatata	8	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:35026572A>G	uc003jjf.2	-	8	892	c.813T>C	c.(811-813)GAT>GAC	p.D271D	AGXT2_uc003jje.1_5'Flank|AGXT2_uc011com.1_Silent_p.D271D	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	271					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			ovary(3)|skin(1)	4	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)	TGCTCAGCGTATCTTTGAATT	0.393													G	35026572	A	G	35026572	2	3	189	1	0	0	0	0	0	0	0	1	405	446	16	3		3	AGXT2	5	35026572	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	202263	35026572	145888688	1440	99297											
UGT3A1	133688	broad.mit.edu	37	chr5	35957483	35957483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggccacaaggacaaaCcctgcatccccaaagttggc	8	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:35957483C>T	uc003jjv.1	-	5	1039	c.882G>A	c.(880-882)GGG>GGA	p.G294G	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.G294G|UGT3A1_uc011cor.1_Silent_p.G260G	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	294	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAGGACAAACCCTGCATCCC	0.488													T	35957483	C	T	35957483	2	4	189	1	0	0	0	0	0	0	0	1	16960	494	18	4		4	UGT3A1	5	35957483	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	930911	35957483	144957777	1441	99298											
UGT3A2	167127	broad.mit.edu	37	chr5	36035842	36035842	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccacgcagccaccagacAgccatgcccagcagcttccc	8	21	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:36035842A>G	uc003jjz.1	-	7	1623	c.1530T>C	c.(1528-1530)GCT>GCC	p.A510A	UGT3A2_uc011cos.1_Silent_p.A476A|UGT3A2_uc011cot.1_Silent_p.A208A	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	510	Cytoplasmic (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCACCAGACAGCCATGCCCA	0.587													G	36035842	A	G	36035842	2	3	189	1	0	0	0	0	0	0	0	1	16961	175	7	3		3	UGT3A2	5	36035842	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	78359	36035842	144879418	1442	99299											
UGT3A2	167127	broad.mit.edu	37	chr5	36064364	36064364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatacctggcataaaaggAcctcttttgtggttaagcat	9	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:36064364A>G	uc003jjz.1	-	2	276	c.183T>C	c.(181-183)GGT>GGC	p.G61G	UGT3A2_uc011cos.1_Intron|UGT3A2_uc011cot.1_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	61	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATAAAAGGACCTCTTTTGT	0.398													G	36064364	A	G	36064364	2	3	189	1	0	0	0	0	0	0	0	1	16961	262	10	3		3	UGT3A2	5	36064364	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	28522	36064364	144850896	1443	99300											
NIPBL	25836	broad.mit.edu	37	chr5	36985832	36985832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacattgagatcctctagTagaaatgaacatggcattaa	8	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:36985832T>C	uc003jkl.3	+	10	3049	c.2550T>C	c.(2548-2550)AGT>AGC	p.S850S	NIPBL_uc003jkk.3_Silent_p.S850S|NIPBL_uc003jkm.1_Silent_p.S729S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	850					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			GATCCTCTAGTAGAAATGAAC	0.408													C	36985832	T	C	36985832	2	2	189	1	0	0	0	0	0	0	0	1	10428	1635	57	3		3	NIPBL	5	36985832	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	921468	36985832	143929428	1444	99301											
NIPBL	25836	broad.mit.edu	37	chr5	37024793	37024793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgtaaaaatgattcGcagagtcaatgatgaagagg	12	3	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:37024793G>A	uc003jkl.3	+	30	6180	c.5681G>A	c.(5680-5682)CGC>CAC	p.R1894H	NIPBL_uc003jkk.3_Missense_Mutation_p.R1894H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1894					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			AAAATGATTCGCAGAGTCAAT	0.299													A	37024793	G	A	37024793	3	1	189	1	0	0	0	0	1	0	0	0	10428	1087	38	1	5795	1	NIPBL	5	37024793	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	38961	37024793	143890467	1445	99302											
WDR70	55100	broad.mit.edu	37	chr5	37703147	37703147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgttttctttgagcgTaggactttccaaagggtgta	10	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:37703147T>C	uc003jkv.2	+	13	1432	c.1374T>C	c.(1372-1374)CGT>CGC	p.R458R		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	458	WD 6.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTGAGCGTAGGACTTTCC	0.423													C	37703147	T	C	37703147	2	2	189	1	0	0	0	0	0	0	0	1	17318	1625	57	3		3	WDR70	5	37703147	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	678354	37703147	143212113	1446	99303											
EGFLAM	133584	broad.mit.edu	37	chr5	38407115	38407115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaatggtgtggccatAatgtcaaggctctttgacat	13	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:38407115A>G	uc003jlc.1	+	8	1338	c.1014A>G	c.(1012-1014)ATA>ATG	p.I338M	EGFLAM_uc003jlb.1_Missense_Mutation_p.I338M|EGFLAM_uc003jle.1_Missense_Mutation_p.I104M|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	338						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GTGTGGCCATAATGTCAAGGC	0.547													G	38407115	A	G	38407115	3	3	189	1	0	0	0	0	1	0	0	0	4966	352	13	3	1058	3	EGFLAM	5	38407115	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	703968	38407115	142508145	1447	99304											
EGFLAM	133584	broad.mit.edu	37	chr5	38464058	38464058	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaagatgccgtggatggGaaaaacatcaacacttgtgg	14	6	1	1	rs17855226		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:38464058G>A	uc003jlc.1	+	23	3348	c.3024G>A	c.(3022-3024)GGG>GGA	p.G1008G	EGFLAM_uc003jlb.1_Silent_p.G1000G|EGFLAM_uc003jle.1_Silent_p.G766G|EGFLAM_uc003jlf.1_Silent_p.G366G|EGFLAM_uc003jlg.1_Silent_p.G143G|EGFLAM_uc003jlh.1_Silent_p.G90G	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	1008	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					CCGTGGATGGGAAAAACATCA	0.527													A	38464058	G	A	38464058	2	1	189	1	0	0	0	0	0	0	0	1	4966	1161	41	4		4	EGFLAM	5	38464058	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	56943	38464058	142451202	1448	99305											
LIFR	3977	broad.mit.edu	37	chr5	38506631	38506631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actaaagtgtagcttgtagcAcgtgggcccaccaacgctgt	11	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:38506631A>G	uc010ive.1	-	8	1427	c.1095T>C	c.(1093-1095)CGT>CGC	p.R365R	LIFR_uc003jli.2_Silent_p.R365R	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	365	Fibronectin type-III 2.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					AGCTTGTAGCACGTGGGCCCA	0.418			T	PLAG1	salivary adenoma								G	38506631	A	G	38506631	2	3	189	1	0	0	0	0	0	0	0	1	8780	146	6	3		3	LIFR	5	38506631	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	42573	38506631	142408629	1449	99306											
OSMR	9180	broad.mit.edu	37	chr5	38932047	38932047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcatcatggtcatgTgctacttgaaaagtcagtgg	10	8	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:38932047T>C	uc003jln.1	+	16	2642	c.2275T>C	c.(2275-2277)TGC>CGC	p.C759R	OSMR_uc011cpj.1_Intron	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	759	Helical; (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					CATGGTCATGTGCTACTTGAA	0.388													C	38932047	T	C	38932047	3	2	189	1	0	0	0	0	1	0	0	0	11292	1696	59	3	2371	3	OSMR	5	38932047	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	425416	38932047	141983213	1450	99307											
RICTOR	253260	broad.mit.edu	37	chr5	38975672	38975672	+	Frame_Shift_Del	DEL	T	T	-													gaatgttgctatgattcccaTtttactggctagaaatcgtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:38975671_38975671AT>A	uc003jlo.2	-	9	879	c.857_857AT>T	c.(856-858)atgfs	p.M286fs	RICTOR_uc003jlp.2_Frame_Shift_Del_p.M286fs|RICTOR_uc010ivf.2_Frame_Shift_Del_p.M1fs|RICTOR_uc003jlq.1_Frame_Shift_Del_p.M270fs	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	286					T cell costimulation|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	TORC2 complex|cytosol	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)					TATGATTCCCATTTTACTGGC	0.388													-	38975672	T	-	38975672	7	5	189	1	0	1	0	1	0	0	0	0	13358	1493	52	0	4386	0	RICTOR	5	38975672	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	43625	38975672	141939588	1451	99308											
DAB2	1601	broad.mit.edu	37	chr5	39376963	39376963	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctctttatccccaagTgggtctaaggcagtgaaggc	11	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:39376963T>C	uc003jlx.2	-	12	2457	c.1926A>G	c.(1924-1926)CCA>CCG	p.P642P	DAB2_uc003jlw.2_Silent_p.P621P	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	642					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			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			TATCCCCAAGTGGGTCTAAGG	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39376963	T	C	39376963	2	2	189	1	0	0	0	0	0	0	0	1	4218	1683	59	3		3	DAB2	5	39376963	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	401291	39376963	141538297	1452	99309											
DAB2	1601	broad.mit.edu	37	chr5	39377133	39377133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccccaaagggcttgttgTtgaccaagcattgggtgcca	11	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:39377133T>C	uc003jlx.2	-	12	2287	c.1756A>G	c.(1756-1758)ACA>GCA	p.T586A	DAB2_uc003jlw.2_Missense_Mutation_p.T565A	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	586					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			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGCTTGTTGTTGACCAAGCA	0.552											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39377133	T	C	39377133	3	2	189	1	0	0	0	0	1	0	0	0	4218	1725	60	3	568	3	DAB2	5	39377133	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	170	39377133	141538127	1453	99310											
HEATR7B2	133558	broad.mit.edu	37	chr5	41015568	41015568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgcagtctttccactTccaagtgaatgcctaaaatc	5	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:41015568T>G	uc003jmj.3	-	29	3387	c.2897A>C	c.(2896-2898)GAA>GCA	p.E966A	HEATR7B2_uc003jmi.3_Missense_Mutation_p.E521A	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	966	HEAT 10.						binding			ovary(6)|central_nervous_system(2)	8						TCTTTCCACTTCCAAGTGAAT	0.388													G	41015568	T	G	41015568	3	3	189	1	0	0	0	0	1	0	0	0	7035	1783	62	5	1916	5	HEATR7B2	5	41015568	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1638435	41015568	139899692	1454	99311											
FBXO4	26272	broad.mit.edu	37	chr5	41927177	41927177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtgtcagttgggaagTacaaatcattattggaatga	11	4	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:41927177T>C	uc003jmq.2	+	2	308	c.252T>C	c.(250-252)AGT>AGC	p.S84S	FBXO4_uc003jmp.2_Silent_p.S84S|FBXO4_uc003jmr.2_Silent_p.S84S	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	84	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			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGTTGGGAAGTACAAATCATT	0.383													C	41927177	T	C	41927177	2	2	189	1	0	0	0	0	0	0	0	1	5748	1635	57	3		3	FBXO4	5	41927177	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	911609	41927177	138988083	1455	99312											
ZNF131	7690	broad.mit.edu	37	chr5	43161820	43161820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accattttaaggagcacatgAaatcacactccactgagagt	7	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:43161820A>G	uc011cpw.1	+	5	877	c.841A>G	c.(841-843)AAA>GAA	p.K281E	ZNF131_uc010ivl.1_Missense_Mutation_p.K247E|ZNF131_uc003jnj.3_Missense_Mutation_p.K2E|ZNF131_uc003jnk.2_Missense_Mutation_p.K247E|ZNF131_uc003jnn.3_Missense_Mutation_p.K2E|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	281	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGAGCACATGAAATCACACTC	0.378													G	43161820	A	G	43161820	3	3	189	1	0	0	0	0	1	0	0	0	17718	247	9	3	757	3	ZNF131	5	43161820	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1234643	43161820	137753440	1456	99313											
NNT	23530	broad.mit.edu	37	chr5	43644365	43644365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggttcagttgttgtggatTtagctgctgaggctggtgga	16	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:43644365T>C	uc003joe.2	+	8	1291	c.1036T>C	c.(1036-1038)TTA>CTA	p.L346L	NNT_uc003jof.2_Silent_p.L346L	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	346	Mitochondrial matrix.				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			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTTGTGGATTTAGCTGCTGA	0.363													C	43644365	T	C	43644365	2	2	189	1	0	0	0	0	0	0	0	1	10510	1838	64	3		3	NNT	5	43644365	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	482545	43644365	137270895	1457	99314											
MRPS30	10884	broad.mit.edu	37	chr5	44811164	44811164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtgaagaaattattcctCgtggtcatcgaagaggtcga	13	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:44811164C>T	uc003joh.2	+	2	693	c.655C>T	c.(655-657)CGT>TGT	p.R219C	MRPS30_uc003joi.1_RNA	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	219					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					AATTATTCCTCGTGGTCATCG	0.363													T	44811164	C	T	44811164	3	4	189	1	0	0	0	0	1	0	0	0	9840	884	31	1	661	1	MRPS30	5	44811164	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1166799	44811164	136104096	1458	99315											
EMB	133418	broad.mit.edu	37	chr5	49699039	49699039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttcttttgtgtgtActtttcacaaagcagaatgg	7	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:49699039A>G	uc003jom.2	-	6	1099	c.850T>C	c.(850-852)TAC>CAC	p.Y284H	EMB_uc010ivq.2_Missense_Mutation_p.Y78H|EMB_uc003jol.2_Missense_Mutation_p.Y215H|EMB_uc011cpy.1_Missense_Mutation_p.Y234H|EMB_uc010ivr.2_Missense_Mutation_p.Y230H	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	284	Cytoplasmic (Potential).					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTGTGTGTACTTTTCACAA	0.343													G	49699039	A	G	49699039	3	3	189	1	0	0	0	0	1	0	0	0	5085	391	14	3	149	3	EMB	5	49699039	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4887875	49699039	131216221	1459	99316											
PARP8	79668	broad.mit.edu	37	chr5	50123859	50123859	+	Frame_Shift_Del	DEL	A	A	-													aatccaattttagagctgctAaaaaactctttggaagcacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:50123858_50123858TA>T	uc003jon.4	+	20	2240	c.2058_2058TA>T	c.(2056-2058)gctfs	p.A686fs	PARP8_uc011cpz.2_Frame_Shift_Del_p.A578fs|PARP8_uc003joo.3_Frame_Shift_Del_p.A686fs|PARP8_uc003jop.3_Frame_Shift_Del_p.A644fs	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	686	PARP catalytic.					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)				TTAGAGCTGCTAAAAAACTCT	0.398													-	50123859	A	-	50123859	7	5	189	1	0	1	0	1	0	0	0	0	11465	363	13	0	2137	0	PARP8	5	50123859	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	424820	50123859	130791401	1460	99317											
DHX29	54505	broad.mit.edu	37	chr5	54569171	54569171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagcttgatcttgggTtgaaagaatagaatgcagag	13	5	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:54569171T>C	uc003jpx.2	-	17	2845	c.2725A>G	c.(2725-2727)ACC>GCC	p.T909A	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	909	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGATCTTGGGTTGAAAGAATA	0.358													C	54569171	T	C	54569171	3	2	189	1	0	0	0	0	1	0	0	0	4503	1725	60	3	1428	3	DHX29	5	54569171	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4445312	54569171	126346089	1461	99318											
DHX29	54505	broad.mit.edu	37	chr5	54591220	54591220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattaccttactcttagggTcctcttcatatgtttttgtt	5	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:54591220T>C	uc003jpx.2	-	5	758	c.638A>G	c.(637-639)GAC>GGC	p.D213G	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	213							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACTCTTAGGGTCCTCTTCATA	0.338													C	54591220	T	C	54591220	3	2	189	1	0	0	0	0	1	0	0	0	4503	1667	58	3	3563	3	DHX29	5	54591220	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22049	54591220	126324040	1462	99319											
SLC38A9	153129	broad.mit.edu	37	chr5	54948375	54948375	+	Frame_Shift_Del	DEL	A	A	-													acctaggatattaaattttgAaaaaaatgaaggagacttga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:54948374_54948374GA>G	uc003jqf.2	-	9	1527	c.935_935TC>C	c.(934-936)tcafs	p.S312fs	SLC38A9_uc003jqd.2_Frame_Shift_Del_p.S249fs|SLC38A9_uc010ivx.2_Frame_Shift_Del_p.S285fs|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Frame_Shift_Del_p.S183fs	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	312					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)				ATTAAATTTTGAAAAAAATGA	0.408													-	54948375	A	-	54948375	7	5	189	1	0	1	0	1	0	0	0	0	14611	246	9	0	779	0	SLC38A9	5	54948375	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	357155	54948375	125966885	1463	99320											
MAP3K1	4214	broad.mit.edu	37	chr5	56178088	56178089	+	Frame_Shift_Del	DEL	AC	AC	-													taccttctgcatctcctcaaAcacagcgcaagttttctcta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:56178087_56178088AAC>A	uc003jqw.4	+	13	3561_3562	c.3060_3061AAC>A	c.(3058-3063)caaacafs	p.Q1020fs		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1020					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|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)		CATCTCCTCAAACACAGCGCAA	0.455													-	56178089	AC	-	56178088	7	5	189	1	0	1	0	1	0	0	0	0	9243	43	2	0	3115	0	MAP3K1	5	56178088	Frame_Shift_Del	DEL	AC	TCGA-CG-5721-01A-11D-1600-08	1229713	56178088	124737172	1464	99321											
GPBP1	65056	broad.mit.edu	37	chr5	56509990	56509990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactttgctccagcctggctTaatttccctactccaccatc	5	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:56509990T>C	uc003jrh.3	+	3	1307	c.33T>C	c.(31-33)CTT>CTC	p.L11L	GPBP1_uc010iwg.2_Silent_p.L11L|GPBP1_uc003jri.3_Intron|GPBP1_uc003jrj.3_Silent_p.L11L|GPBP1_uc003jrk.3_Silent_p.L11L	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CAGCCTGGCTTAATTTCCCTA	0.428													C	56509990	T	C	56509990	2	2	189	1	0	0	0	0	0	0	0	1	6595	1741	61	3		3	GPBP1	5	56509990	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	331902	56509990	124405270	1465	99322											
KIF2A	3796	broad.mit.edu	37	chr5	61659541	61659541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacatccggtcaaacatctGcaaatgcacattcatctcgg	7	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:61659541G>A	uc003jsy.3	+	14	1593	c.1282G>A	c.(1282-1284)GCA>ACA	p.A428T	KIF2A_uc003jsz.3_Missense_Mutation_p.A428T|KIF2A_uc010iwp.2_Missense_Mutation_p.A409T|KIF2A_uc003jsx.3_Missense_Mutation_p.A408T|KIF2A_uc010iwq.2_Missense_Mutation_p.A231T	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	428	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TCAAACATCTGCAAATGCACA	0.333													A	61659541	G	A	61659541	3	1	189	1	0	0	0	0	1	0	0	0	8297	1319	46	2	1336	2	KIF2A	5	61659541	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5149551	61659541	119255719	1466	99323											
HTR1A	3350	broad.mit.edu	37	chr5	63256867	63256867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctttttgaccgtcttgCggatgcggaagcgcgcagct	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:63256867C>T	uc011cqt.1	-	1	680	c.680G>A	c.(679-681)CGC>CAC	p.R227H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	227	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R227H(1)		ovary(2)|pancreas(2)	4		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)	GACCGTCTTGCGGATGCGGAA	0.587													T	63256867	C	T	63256867	3	4	189	1	0	0	0	0	1	0	0	0	7436	768	27	1	591	1	HTR1A	5	63256867	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1597326	63256867	117658393	1467	99324											
RNF180	285671	broad.mit.edu	37	chr5	63509837	63509837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcttttcatagaaaatcAcatagtttggatctgaacat	7	6	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:63509837A>G	uc003jti.2	+	4	794	c.684A>G	c.(682-684)TCA>TCG	p.S228S	RNF180_uc003jth.3_Silent_p.S228S|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	228	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATAGAAAATCACATAGTTTGG	0.383													G	63509837	A	G	63509837	2	3	189	1	0	0	0	0	0	0	0	1	13464	146	6	3		3	RNF180	5	63509837	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	252970	63509837	117405423	1468	99325											
RGS7BP	401190	broad.mit.edu	37	chr5	63803674	63803674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtgaaatggcccgtcAggcacaccaaaaattggctg	12	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:63803674A>G	uc003jtj.2	+	2	302	c.302A>G	c.(301-303)CAG>CGG	p.Q101R		NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding	101					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane					0		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ATGGCCCGTCAGGCACACCAA	0.493													G	63803674	A	G	63803674	3	3	189	1	0	0	0	0	1	0	0	0	13311	188	7	3	308	3	RGS7BP	5	63803674	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	293837	63803674	117111586	1469	99326											
PPWD1	23398	broad.mit.edu	37	chr5	64879030	64879030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggagacattcacaccAaactttttcctgttgagtat	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:64879030A>G	uc003jtv.3	+	8	1523	c.1516A>G	c.(1516-1518)AAA>GAA	p.K506E	PPWD1_uc011cqv.1_Missense_Mutation_p.K476E|PPWD1_uc011cqw.1_Missense_Mutation_p.K350E	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	506	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATTCACACCAAACTTTTTCC	0.373													G	64879030	A	G	64879030	3	3	189	1	0	0	0	0	1	0	0	0	12414	131	5	3	1546	3	PPWD1	5	64879030	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1075356	64879030	116036230	1470	99327											
NLN	57486	broad.mit.edu	37	chr5	65084052	65084052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttgaatatgatgggaaaAtcaatgcctgggatctatat	10	4	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:65084052A>G	uc003juf.2	+	8	1182	c.1066A>G	c.(1066-1068)ATC>GTC	p.I356V	NLN_uc003jue.2_Missense_Mutation_p.I356V|NLN_uc003jug.2_Missense_Mutation_p.I185V|NLN_uc010iww.2_Missense_Mutation_p.I51V	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	356					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		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)		TGATGGGAAAATCAATGCCTG	0.393													G	65084052	A	G	65084052	3	3	189	1	0	0	0	0	1	0	0	0	10467	101	4	3	1096	3	NLN	5	65084052	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	205022	65084052	115831208	1471	99328											
ERBB2IP	55914	broad.mit.edu	37	chr5	65324153	65324153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcaattgacagctatGtggctctcagataatcaggt	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:65324153G>A	uc003juk.1	+	14	1496	c.1188G>A	c.(1186-1188)ATG>ATA	p.M396I	ERBB2IP_uc003juh.1_Missense_Mutation_p.M396I|ERBB2IP_uc003jui.1_Missense_Mutation_p.M396I|ERBB2IP_uc003juj.1_Missense_Mutation_p.M396I|ERBB2IP_uc011cqx.1_Missense_Mutation_p.M396I|ERBB2IP_uc011cqy.1_Missense_Mutation_p.M396I|ERBB2IP_uc011cqz.1_Missense_Mutation_p.M396I|ERBB2IP_uc010iwx.1_Missense_Mutation_p.M396I|ERBB2IP_uc003jul.1_Missense_Mutation_p.M396I	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	396	LRR 17.				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			ovary(3)|lung(2)|central_nervous_system(2)	7		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)		TGACAGCTATGTGGCTCTCAG	0.303													A	65324153	G	A	65324153	3	1	189	1	0	0	0	0	1	0	0	0	5207	1377	48	4	1234	4	ERBB2IP	5	65324153	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	240101	65324153	115591107	1472	99329											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350643	65350643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgatttcaattattcacGgactagtccttcaaaaagac	6	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:65350643G>A	uc003juk.1	+	21	3805	c.3497G>A	c.(3496-3498)CGG>CAG	p.R1166Q	ERBB2IP_uc003jui.1_Missense_Mutation_p.R1166Q|ERBB2IP_uc003juj.1_Missense_Mutation_p.R1166Q|ERBB2IP_uc011cqx.1_Missense_Mutation_p.R1166Q|ERBB2IP_uc011cqy.1_Missense_Mutation_p.R1166Q|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.R1162Q|ERBB2IP_uc003jul.1_Missense_Mutation_p.R1162Q	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	1166					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			ovary(3)|lung(2)|central_nervous_system(2)	7		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)		AATTATTCACGGACTAGTCCT	0.403													A	65350643	G	A	65350643	3	1	189	1	0	0	0	0	1	0	0	0	5207	1116	39	1	3571	1	ERBB2IP	5	65350643	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	26490	65350643	115564617	1473	99330											
CD180	4064	broad.mit.edu	37	chr5	66478818	66478818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcttgacatcagatAgcttaactccccttagagat	8	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:66478818A>G	uc003juy.2	-	3	2001	c.1853T>C	c.(1852-1854)CTA>CCA	p.L618P		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	618	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		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)		GACATCAGATAGCTTAACTCC	0.393													G	66478818	A	G	66478818	3	3	189	1	0	0	0	0	1	0	0	0	2972	420	15	3	136	3	CD180	5	66478818	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1128175	66478818	114436442	1474	99331											
CD180	4064	broad.mit.edu	37	chr5	66479818	66479818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgagatgtcagagaagcGgtgttcctgcaggttgaggc	17	6	1	3	rs140099362		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:66479818G>A	uc003juy.2	-	3	1001	c.853C>T	c.(853-855)CGC>TGC	p.R285C		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	285	Extracellular (Potential).|LRR 8.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		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)		TCAGAGAAGCGGTGTTCCTGC	0.473													A	66479818	G	A	66479818	3	1	189	1	0	0	0	0	1	0	0	0	2972	1116	39	1	1136	1	CD180	5	66479818	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1000	66479818	114435442	1475	99332											
PIK3R1	5295	broad.mit.edu	37	chr5	67522741	67522741	+	Frame_Shift_Del	DEL	A	A	-													acgtagaatatattggaaggAaaaaaatctcgcctcccaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:67522740_67522740GA>G	uc003jva.3	+	1	817	c.237_237GA>G	c.(235-237)aggfs	p.R79fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	79	SH3.				T cell costimulation|T cell receptor signaling pathway|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	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)		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)	ATATTGGAAGGAAAAAAATCT	0.493			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67522741	A	-	67522741	7	5	189	1	0	1	0	1	0	0	0	0	11918	247	9	0	240	0	PIK3R1	5	67522741	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1042923	67522741	113392519	1476	99333											
PIK3R1	5295	broad.mit.edu	37	chr5	67576487	67576488	+	Frame_Shift_Ins	INS	-	-	A													gctctctcaaacctccagcaINSaaaatctgttgaatgcaaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:67576486_67576487C>CA	uc003jva.3	+	5	1345_1346	c.765_766C>CA	c.(763-768)agcaaafs	p.S255fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	255	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|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	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)		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)	AAACCTCCAGCAAAAATCTGTT	0.386			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67576488	-	A	67576487	7	5	189	1	0	1	1	0	0	0	0	0	11918	131	5	0	784	0	PIK3R1	5	67576487	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	53746	67576487	113338773	1477	99334											
RAD17	5884	broad.mit.edu	37	chr5	68687758	68687758	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgatagggtttttgaAaatcaagaggtccaagctat	9	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:68687758A>G	uc003jwo.2	+	10	1202	c.1140A>G	c.(1138-1140)GAA>GAG	p.E380E	RAD17_uc003jwg.2_Silent_p.E369E|RAD17_uc003jwh.2_Silent_p.E369E|RAD17_uc003jwi.2_Silent_p.E369E|RAD17_uc003jwj.2_Silent_p.E369E|RAD17_uc003jwk.2_Silent_p.E369E|RAD17_uc003jwl.2_Silent_p.E369E|RAD17_uc003jwm.2_Silent_p.E204E|RAD17_uc003jwn.2_Silent_p.E283E|RAD17_uc003jwp.2_5'Flank	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	380					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				0		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)		GGGTTTTTGAAAATCAAGAGG	0.343								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					G	68687758	A	G	68687758	2	3	189	1	0	0	0	0	0	0	0	1	12979	11	1	3		3	RAD17	5	68687758	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1111271	68687758	112227502	1478	99335											
MARVELD2	153562	broad.mit.edu	37	chr5	68728430	68728430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgagaacagcaaaaatgaAacctgaactactgagtggac	9	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:68728430A>G	uc003jwq.2	+	4	1318	c.1259A>G	c.(1258-1260)AAA>AGA	p.K420R	MARVELD2_uc010ixf.2_Missense_Mutation_p.K408R|MARVELD2_uc003jwr.1_Missense_Mutation_p.K420R|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	420	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		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)		GCAAAAATGAAACCTGAACTA	0.463													G	68728430	A	G	68728430	3	3	189	1	0	0	0	0	1	0	0	0	9318	14	1	3	1269	3	MARVELD2	5	68728430	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	40672	68728430	112186830	1479	99336											
ZNF366	167465	broad.mit.edu	37	chr5	71756026	71756026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgcttgaggtggtgcGgctgcacaaactccatgcca	13	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:71756026G>A	uc003kce.1	-	2	1484	c.1298C>T	c.(1297-1299)CCG>CTG	p.P433L		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	433	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GAGGTGGTGCGGCTGCACAAA	0.622													A	71756026	G	A	71756026	3	1	189	1	0	0	0	0	1	0	0	0	17867	1116	39	1	952	1	ZNF366	5	71756026	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3027596	71756026	109159234	1480	99337											
TNPO1	3842	broad.mit.edu	37	chr5	72173153	72173153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccaatatgcaaagatgtActcgtaaggcatcttcctaa	7	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:72173153A>G	uc003kck.3	+	9	1047	c.900A>G	c.(898-900)GTA>GTG	p.V300V	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Silent_p.V250V|TNPO1_uc003kch.2_Silent_p.V292V|TNPO1_uc003kci.3_Silent_p.V292V|TNPO1_uc003kcg.3_Silent_p.V292V	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	300					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCAAAGATGTACTCGTAAGGC	0.343													G	72173153	A	G	72173153	2	3	189	1	0	0	0	0	0	0	0	1	16332	378	14	3		3	TNPO1	5	72173153	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	417127	72173153	108742107	1481	99338											
RGNEF	64283	broad.mit.edu	37	chr5	73048780	73048780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctgtgtgcctctgctcGgaaggttactctccggtgac	12	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:73048780G>A	uc011csq.1	+	3	239	c.228G>A	c.(226-228)TCG>TCA	p.S76S	RGNEF_uc003kcx.2_Silent_p.S76S|RGNEF_uc003kcy.1_Silent_p.S76S|RGNEF_uc010izf.2_Silent_p.S76S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	76					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GCCTCTGCTCGGAAGGTTACT	0.582													A	73048780	G	A	73048780	2	1	189	1	0	0	0	0	0	0	0	1	13283	1103	39	1		1	RGNEF	5	73048780	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	875627	73048780	107866480	1482	99339											
ARSB	411	broad.mit.edu	37	chr5	78076471	78076471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattgagacggtggagggaAccagtaaccacagcctagca	13	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:78076471A>G	uc003kfq.2	-	8	2637	c.1351T>C	c.(1351-1353)TTC>CTC	p.F451L		NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	451					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		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)		GGTGGAGGGAACCAGTAACCA	0.488													G	78076471	A	G	78076471	3	3	189	1	0	0	0	0	1	0	0	0	988	43	2	3	254	3	ARSB	5	78076471	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5027691	78076471	102838789	1483	99340											
BHMT	635	broad.mit.edu	37	chr5	78423758	78423758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcagaaaaacatggcaGctggggaagtggtttggaca	14	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:78423758G>A	uc003kfu.3	+	7	1094	c.989G>A	c.(988-990)AGC>AAC	p.S330N	BHMT_uc011cti.1_Missense_Mutation_p.S177N	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	330					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AAACATGGCAGCTGGGGAAGT	0.483													A	78423758	G	A	78423758	3	1	189	1	0	0	0	0	1	0	0	0	1425	971	34	2	1015	2	BHMT	5	78423758	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	347287	78423758	102491502	1484	99341											
JMY	133746	broad.mit.edu	37	chr5	78610597	78610597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagtgccccctcagcacAcctctttgacagcagccagc	8	18	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:78610597A>G	uc003kfx.3	+	9	3102	c.2582A>G	c.(2581-2583)CAC>CGC	p.H861R	JMY_uc003kfw.1_Missense_Mutation_p.H507R	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	861					'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				0		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)		CCCTCAGCACACCTCTTTGAC	0.522													G	78610597	A	G	78610597	3	3	189	1	0	0	0	0	1	0	0	0	7957	159	6	3	2616	3	JMY	5	78610597	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	186839	78610597	102304663	1485	99342											
CMYA5	202333	broad.mit.edu	37	chr5	79031641	79031641	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagtccagaagccagcaatCgctcctccatctaaatggaa	8	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:79031641C>T	uc003kgc.2	+	2	7125	c.7053C>T	c.(7051-7053)ATC>ATT	p.I2351I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2351						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		AGCCAGCAATCGCTCCTCCAT	0.358													T	79031641	C	T	79031641	2	4	189	1	0	0	0	0	0	0	0	1	3590	874	31	1		1	CMYA5	5	79031641	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	421044	79031641	101883619	1486	99343											
CMYA5	202333	broad.mit.edu	37	chr5	79034436	79034437	+	Frame_Shift_Ins	INS	-	-	G													gctgcagaaggggaaatttgINSgggaaagtttggaactattt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:79034435_79034436T>TG	uc003kgc.3	+	1	9919_9920	c.9847_9848T>TG	c.(9847-9849)tggfs	p.W3283fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3283						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)		AGGGGAAATTTGGGGAAAGTTT	0.455													G	79034437	-	G	79034436	7	5	189	1	0	1	1	0	0	0	0	0	3590	1357	47	0	9854	0	CMYA5	5	79034436	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	2795	79034436	101880824	1487	99344											
CMYA5	202333	broad.mit.edu	37	chr5	79034494	79034494	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacagaaaggtgtttaTggggaaggagaatcagtaga	15	2	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:79034494T>A	uc003kgc.2	+	2	9978	c.9906T>A	c.(9904-9906)TAT>TAA	p.Y3302*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3302						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		AAGGTGTTTATGGGGAAGGAG	0.473													A	79034494	T	A	79034494	4	1	189	1	0	0	0	0	0	1	0	0	3590	1471	51	5	9912	5	CMYA5	5	79034494	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	58	79034494	101880766	1488	99345											
CMYA5	202333	broad.mit.edu	37	chr5	79095361	79095361	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgagggtgtccacccTgcctttgccctggagaaacc	10	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:79095361T>C	uc003kgc.2	+	13	12204	c.12132T>C	c.(12130-12132)CCT>CCC	p.P4044P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4044	B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		GTGTCCACCCTGCCTTTGCCC	0.498													C	79095361	T	C	79095361	2	2	189	1	0	0	0	0	0	0	0	1	3590	1567	55	3		3	CMYA5	5	79095361	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	60867	79095361	101819899	1489	99346											
ZFYVE16	9765	broad.mit.edu	37	chr5	79770525	79770525	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatttatctattttatcaaCttcttatcagtttgcaaaag	5	6	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:79770525C>G	uc003kgr.3	+	18	4639	c.4337C>G	c.(4336-4338)ACT>AGT	p.T1446S	ZFYVE16_uc003kgq.3_Missense_Mutation_p.T1446S|ZFYVE16_uc003kgs.3_Missense_Mutation_p.T1446S|ZFYVE16_uc003kgt.3_Missense_Mutation_p.T534S|ZFYVE16_uc003kgu.3_Missense_Mutation_p.T198S	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1446					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				0		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)		ATTTTATCAACTTCTTATCAG	0.338													G	79770525	C	G	79770525	3	3	189	1	0	0	0	0	1	0	0	0	17661	565	20	5	4399	5	ZFYVE16	5	79770525	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	675164	79770525	101144735	1490	99347											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854405	79854405	+	Frame_Shift_Del	DEL	T	T	-													ggaactgttggcataagcacTttttgaccacaagaaagaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:79854404_79854404CT>C	uc010jam.3	-	3	1785	c.1435_1435AG>G	c.(1435-1437)gtgfs	p.V479fs	ANKRD34B_uc003kgw.3_Frame_Shift_Del_p.V479fs|ANKRD34B_uc010jan.3_Frame_Shift_Del_p.V479fs|ANKRD34B_uc021yax.1_Frame_Shift_Del_p.V479fs	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	479						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGCATAAGCACTTTTTGACCA	0.363													-	79854405	T	-	79854405	7	5	189	1	0	1	0	1	0	0	0	0	663	1606	56	0	114	0	ANKRD34B	5	79854405	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	83880	79854405	101060855	1491	99348											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854592	79854592	+	Frame_Shift_Del	DEL	G	G	-													ttctcctgctcaggggacctGgggggatattctccaacaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:79854591_79854591TG>T	uc010jam.3	-	3	1598	c.1248_1248CA>A	c.(1246-1248)ccafs	p.P416fs	ANKRD34B_uc003kgw.3_Frame_Shift_Del_p.P416fs|ANKRD34B_uc010jan.3_Frame_Shift_Del_p.P416fs|ANKRD34B_uc021yax.1_Frame_Shift_Del_p.P416fs	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	416						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAGGGGACCTGGGGGGATAT	0.463													-	79854592	G	-	79854592	7	5	189	1	0	1	0	1	0	0	0	0	663	1348	47	0	301	0	ANKRD34B	5	79854592	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	187	79854592	101060668	1492	99349											
MSH3	4437	broad.mit.edu	37	chr5	80109433	80109433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagtaatgataattaccGgaccaaacatgggtggaaag	12	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:80109433G>A	uc003kgz.2	+	20	2939	c.2686G>A	c.(2686-2688)GGA>AGA	p.G896R		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	896	ATP (Potential).				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			lung(2)|ovary(1)|breast(1)	4		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)		GATAATTACCGGACCAAACAT	0.373								MMR					A	80109433	G	A	80109433	3	1	189	1	0	0	0	0	1	0	0	0	9871	1117	39	1	2764	1	MSH3	5	80109433	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	254841	80109433	100805827	1493	99350											
MSH3	4437	broad.mit.edu	37	chr5	80160751	80160751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgaggatgaaagcaaActggatccaggtatgaaata	12	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:80160751A>G	uc003kgz.2	+	22	3373	c.3120A>G	c.(3118-3120)AAA>AAG	p.K1040K		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	1040					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			lung(2)|ovary(1)|breast(1)	4		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)		ATGAAAGCAAACTGGATCCAG	0.378								MMR					G	80160751	A	G	80160751	2	3	189	1	0	0	0	0	0	0	0	1	9871	40	2	3		3	MSH3	5	80160751	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	51318	80160751	100754509	1494	99351											
RASGRF2	5924	broad.mit.edu	37	chr5	80503095	80503095	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggccgaatgctttgagTccttgtcggccatggagctg	14	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:80503095T>A	uc003kha.1	+	21	2998	c.2998T>A	c.(2998-3000)TCC>ACC	p.S1000T	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1000					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			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		ATGCTTTGAGTCCTTGTCGGC	0.557													A	80503095	T	A	80503095	3	1	189	1	0	0	0	0	1	0	0	0	13073	1667	58	5	3080	5	RASGRF2	5	80503095	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	342344	80503095	100412165	1495	99352											
ZCCHC9	84240	broad.mit.edu	37	chr5	80607037	80607037	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctttcaataggtggcggTtgcaaactttgtggctctgt	12	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:80607037T>A	uc003khj.2	+	5	769	c.636T>A	c.(634-636)GGT>GGA	p.G212G	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.G212G|ZCCHC9_uc003khi.2_Silent_p.G212G	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	212	CCHC-type 4.						nucleic acid binding|zinc ion binding			ovary(1)	1		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)		TAGGTGGCGGTTGCAAACTTT	0.294													A	80607037	T	A	80607037	2	1	189	1	0	0	0	0	0	0	0	1	17592	1712	60	5		5	ZCCHC9	5	80607037	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	103942	80607037	100308223	1496	99353											
VCAN	1462	broad.mit.edu	37	chr5	82816822	82816822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtcaactttgagagaTtctacaactgaagaaaaagt	8	5	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:82816822T>C	uc003kii.3	+	7	3053	c.2697T>C	c.(2695-2697)GAT>GAC	p.D899D	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.D899D|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	899	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CTTTGAGAGATTCTACAACTG	0.413													C	82816822	T	C	82816822	2	2	189	1	0	0	0	0	0	0	0	1	17135	1490	52	3		3	VCAN	5	82816822	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2209785	82816822	98098438	1497	99354											
VCAN	1462	broad.mit.edu	37	chr5	82817461	82817461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgctgtaactgagcaCaaagtgaaaacagatgaagt	11	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:82817461C>T	uc003kii.3	+	7	3692	c.3336C>T	c.(3334-3336)CAC>CAT	p.H1112H	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.H1112H|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1112	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		TAACTGAGCACAAAGTGAAAA	0.413													T	82817461	C	T	82817461	2	4	189	1	0	0	0	0	0	0	0	1	17135	477	17	4		4	VCAN	5	82817461	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	639	82817461	98097799	1498	99355											
VCAN	1462	broad.mit.edu	37	chr5	82832848	82832848	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgagtgatttgagtgtAattggtcatccaatagattc	10	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:82832848A>G	uc003kii.3	+	8	4382	c.4026A>G	c.(4024-4026)GTA>GTG	p.V1342V	VCAN_uc003kij.3_Silent_p.V355V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.V6V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1342	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		ATTTGAGTGTAATTGGTCATC	0.348													G	82832848	A	G	82832848	2	3	189	1	0	0	0	0	0	0	0	1	17135	349	13	3		3	VCAN	5	82832848	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	15387	82832848	98082412	1499	99356											
VCAN	1462	broad.mit.edu	37	chr5	82835440	82835440	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgaaaagtcacattttttCttagctactgcattagtaac	5	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:82835440C>T	uc003kii.3	+	8	6974	c.6618C>T	c.(6616-6618)TTC>TTT	p.F2206F	VCAN_uc003kij.3_Silent_p.F1219F|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.F870F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2206	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CACATTTTTTCTTAGCTACTG	0.373													T	82835440	C	T	82835440	2	4	189	1	0	0	0	0	0	0	0	1	17135	912	32	4		4	VCAN	5	82835440	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2592	82835440	98079820	1500	99357											
EDIL3	10085	broad.mit.edu	37	chr5	83360623	83360623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatggggggtgtgaaagagTtagcatatggagtgttgtta	16	1	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:83360623T>C	uc003kio.1	-	8	1267	c.848A>G	c.(847-849)AAC>AGC	p.N283S	EDIL3_uc003kip.1_Missense_Mutation_p.N273S|EDIL3_uc011ctt.1_Missense_Mutation_p.N60S	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	283	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGTGAAAGAGTTAGCATATGG	0.373													C	83360623	T	C	83360623	3	2	189	1	0	0	0	0	1	0	0	0	4915	1725	60	3	610	3	EDIL3	5	83360623	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	525183	83360623	97554637	1501	99358											
TMEM161B	153396	broad.mit.edu	37	chr5	87536644	87536644	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacctgccattacagagTagccatcgagcaagagaata	8	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:87536644T>C	uc003kjc.2	-	2	218	c.93A>G	c.(91-93)CTA>CTG	p.L31L	TMEM161B_uc011cty.1_Silent_p.L20L|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Intron	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	31						integral to membrane				skin(2)	2		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)		CATTACAGAGTAGCCATCGAG	0.398													C	87536644	T	C	87536644	2	2	189	1	0	0	0	0	0	0	0	1	16074	1625	57	3		3	TMEM161B	5	87536644	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4176021	87536644	93378616	1502	99359											
CETN3	1070	broad.mit.edu	37	chr5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-													agaatcttcagtacatcagcTttttttacatcaaaccccaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:89701580_89701580CT>C	uc003kjo.3	-	2	315	c.190_190AG>G	c.(190-192)gctfs	p.A64fs		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	64	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGTACATCAGCTTTTTTTACA	0.313													-	89701581	T	-	89701581	7	5	189	1	0	1	0	1	0	0	0	0	3276	1606	56	0	326	0	CETN3	5	89701581	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2164937	89701581	91213679	1503	99360											
GPR98	84059	broad.mit.edu	37	chr5	89949384	89949384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggatgctttgtactttacCggactagagggtgcatttgg	13	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:89949384C>T	uc003kju.2	+	20	4089	c.3993C>T	c.(3991-3993)ACC>ACT	p.T1331T	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1331	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TGTACTTTACCGGACTAGAGG	0.443													T	89949384	C	T	89949384	2	4	189	1	0	0	0	0	0	0	0	1	6721	639	23	1		1	GPR98	5	89949384	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	247803	89949384	90965876	1504	99361											
MCTP1	79772	broad.mit.edu	37	chr5	94288931	94288931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatggctcacctttatatAcaatggctccctaagatgat	6	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:94288931A>G	uc003kkx.2	-	3	973	c.973T>C	c.(973-975)TAT>CAT	p.Y325H	MCTP1_uc003kkv.2_Missense_Mutation_p.Y104H|MCTP1_uc003kkw.2_Missense_Mutation_p.Y104H|MCTP1_uc003kkz.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	325	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		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)		ACCTTTATATACAATGGCTCC	0.353													G	94288931	A	G	94288931	3	3	189	1	0	0	0	0	1	0	0	0	9400	391	14	3	2110	3	MCTP1	5	94288931	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4339547	94288931	86626329	1505	99362											
FAM81B	153643	broad.mit.edu	37	chr5	94784099	94784099	+	Frame_Shift_Del	DEL	A	A	-													atatggaaaataaattgtccAaaaagatggaacaaatggaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:94784098_94784098CA>C	uc003kla.1	+	8	1201	c.1155_1155CA>C	c.(1153-1155)tccfs	p.S385fs	FAM81B_uc010jbe.1_Frame_Shift_Del_p.S181fs	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	385										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ATAAATTGTCCAAAAAGATGG	0.333													-	94784099	A	-	94784099	7	5	189	1	0	1	0	1	0	0	0	0	5629	131	5	0	1190	0	FAM81B	5	94784099	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	495168	94784099	86131161	1506	99363											
TTC37	9652	broad.mit.edu	37	chr5	94859446	94859446	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggctttcctataacaTccacgagctctgtttttatc	5	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:94859446T>C	uc003klb.2	-	17	1815	c.1545A>G	c.(1543-1545)GGA>GGG	p.G515G	TTC37_uc010jbf.1_Silent_p.G467G	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	515	TPR 8.						binding			ovary(3)|pancreas(1)	4						TCCTATAACATCCACGAGCTC	0.393													C	94859446	T	C	94859446	2	2	189	1	0	0	0	0	0	0	0	1	16702	1422	50	3		3	TTC37	5	94859446	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	75347	94859446	86055814	1507	99364											
ARSK	153642	broad.mit.edu	37	chr5	94927320	94927320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtggatatttaccctAccatgcttggtaagtaatgt	8	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:94927320A>G	uc003kld.2	+	6	1245	c.1087A>G	c.(1087-1089)ACC>GCC	p.T363A	ARSK_uc010jbg.2_Missense_Mutation_p.T204A|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	363						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		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)		TATTTACCCTACCATGCTTGG	0.398													G	94927320	A	G	94927320	3	3	189	1	0	0	0	0	1	0	0	0	996	391	14	3	1109	3	ARSK	5	94927320	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	67874	94927320	85987940	1508	99365											
ELL2	22936	broad.mit.edu	37	chr5	95249473	95249473	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagatatctatacaaAcctacatatggtccaccggg	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:95249473A>G	uc003klr.3	-	4	831	c.481_splice	c.e4+1	p.G161_splice		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		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)		ATCTATACAAACCTACATATG	0.398													G	95249473	A	G	95249473	5	3	189	1	0	0	0	0	0	0	1	0	5063	57	2	3	1475	3	ELL2	5	95249473	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	322153	95249473	85665787	1509	99366											
LNPEP	4012	broad.mit.edu	37	chr5	96315402	96315402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgacattcaggggttctGtgacaatttcagttcaggct	11	8	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:96315402G>A	uc003kmv.1	+	2	1094	c.580G>A	c.(580-582)GTG>ATG	p.V194M	LNPEP_uc003kmw.1_Missense_Mutation_p.V180M	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	194	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		CAGGGGTTCTGTGACAATTTC	0.463													A	96315402	G	A	96315402	3	1	189	1	0	0	0	0	1	0	0	0	8864	1377	48	4	586	4	LNPEP	5	96315402	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1065929	96315402	84599858	1510	99367											
LNPEP	4012	broad.mit.edu	37	chr5	96315595	96315595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagcagggcacaattataCgttgaagatagagtactcgg	11	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:96315595C>T	uc003kmv.1	+	2	1287	c.773C>T	c.(772-774)ACG>ATG	p.T258M	LNPEP_uc003kmw.1_Missense_Mutation_p.T244M	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	258	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		CACAATTATACGTTGAAGATA	0.418													T	96315595	C	T	96315595	3	4	189	1	0	0	0	0	1	0	0	0	8864	536	19	1	779	1	LNPEP	5	96315595	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	193	96315595	84599665	1511	99368											
CHD1	1105	broad.mit.edu	37	chr5	98209302	98209302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtttaatgttacctgttCgttctgttcctgaagaacta	7	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:98209302C>T	uc003knf.2	-	25	3714	c.3566G>A	c.(3565-3567)CGA>CAA	p.R1189Q	CHD1_uc010jbn.2_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1189					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			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		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)	GTTACCTGTTCGTTCTGTTCC	0.313													T	98209302	C	T	98209302	3	4	189	1	0	0	0	0	1	0	0	0	3323	884	31	1	1610	1	CHD1	5	98209302	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1893707	98209302	82705958	1512	99369											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						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)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	189	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	3546426	101755728	79159532	1513	99370											
PPIP5K2	23262	broad.mit.edu	37	chr5	102494895	102494895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacacccattcttgttcaaAtggtgaaaagtgcaaatatg	7	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:102494895A>G	uc003kod.3	+	17	2302	c.1783A>G	c.(1783-1785)ATG>GTG	p.M595V	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.M595V	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	595					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			ovary(1)|skin(1)	2						TCTTGTTCAAATGGTGAAAAG	0.353													G	102494895	A	G	102494895	3	3	189	1	0	0	0	0	1	0	0	0	12333	101	4	3	1845	3	PPIP5K2	5	102494895	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	739167	102494895	78420365	1514	99371											
FER	2241	broad.mit.edu	37	chr5	108219101	108219101	+	Frame_Shift_Del	DEL	A	A	-													atactgtttattctaggttgAaaacgttagcggaagaactt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:108219100_108219100GA>G	uc003kop.1	+	8	1311	c.927_927GA>G	c.(925-927)ttgfs	p.L309fs	FER_uc011cvf.1_Intron|FER_uc011cvg.1_Frame_Shift_Del_p.L134fs	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	309					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)		ATTCTAGGTTGAAAACGTTAG	0.323													-	108219101	A	-	108219101	7	5	189	1	0	1	0	1	0	0	0	0	5813	247	9	0	954	0	FER	5	108219101	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	5724206	108219101	72696159	1515	99372											
MAN2A1	4124	broad.mit.edu	37	chr5	109117120	109117120	+	Frame_Shift_Del	DEL	T	T	-													cagtttggaactttatcagaTttttttgatgcgctggataa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:109117119_109117119AT>A	uc003kou.1	+	8	2360	c.1397_1397AT>A	c.(1396-1398)gatfs	p.D466fs		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	466					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)		ACTTTATCAGATTTTTTTGAT	0.328													-	109117120	T	-	109117120	7	5	189	1	0	1	0	1	0	0	0	0	9214	1490	52	0	1432	0	MAN2A1	5	109117120	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	898019	109117120	71798140	1516	99373											
MAN2A1	4124	broad.mit.edu	37	chr5	109181585	109181585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcaacctagaatgacacTgagcaaattgcctcttcaag	7	10	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:109181585T>C	uc003kou.1	+	18	3683	c.2720T>C	c.(2719-2721)CTG>CCG	p.L907P		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	907	Lumenal (Potential).				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		AGAATGACACTGAGCAAATTG	0.368													C	109181585	T	C	109181585	3	2	189	1	0	0	0	0	1	0	0	0	9214	1580	55	3	2790	3	MAN2A1	5	109181585	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	64465	109181585	71733675	1517	99374											
SLC25A46	91137	broad.mit.edu	37	chr5	110096994	110096994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagtgcctcatagcaaaCgacttcttccgcttctttcc	8	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:110096994C>T	uc003koz.2	+	8	836	c.769C>T	c.(769-771)CGA>TGA	p.R257*	SLC25A46_uc011cvi.1_Nonsense_Mutation_p.R166*	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	257					transport	integral to membrane|mitochondrial inner membrane					0		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)		TCATAGCAAACGACTTCTTCC	0.398													T	110096994	C	T	110096994	4	4	189	1	0	0	0	0	0	1	0	0	14511	528	19	1	799	1	SLC25A46	5	110096994	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	915409	110096994	70818266	1518	99375											
SLC25A46	91137	broad.mit.edu	37	chr5	110097241	110097241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccattggaaacagttttgcAccgccttcacattcaaggaa	7	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:110097241A>G	uc003koz.2	+	8	1083	c.1016A>G	c.(1015-1017)CAC>CGC	p.H339R	SLC25A46_uc011cvi.1_Missense_Mutation_p.H248R	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	339	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0		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)		ACAGTTTTGCACCGCCTTCAC	0.398													G	110097241	A	G	110097241	3	3	189	1	0	0	0	0	1	0	0	0	14511	159	6	3	1046	3	SLC25A46	5	110097241	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	247	110097241	70818019	1519	99376											
WDR36	134430	broad.mit.edu	37	chr5	110445992	110445992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacatcgaggaagttttggCaaggatcaaggtagagaatt	12	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:110445992C>T	uc003kpd.2	+	13	1716	c.1599C>T	c.(1597-1599)GGC>GGT	p.G533G	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	533					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		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)		GAAGTTTTGGCAAGGATCAAG	0.358													T	110445992	C	T	110445992	2	4	189	1	0	0	0	0	0	0	0	1	17287	697	25	2		2	WDR36	5	110445992	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	348751	110445992	70469268	1520	99377											
WDR36	134430	broad.mit.edu	37	chr5	110462497	110462497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataacaaatttgtcatcccaGgtggaagaaaactggaccca	8	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:110462497G>T	uc003kpd.2	+	23	2889	c.2772G>T	c.(2770-2772)CAG>CAT	p.Q924H	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	924					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		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)		TGTCATCCCAGGTGGAAGAAA	0.323													T	110462497	G	T	110462497	3	4	189	1	0	0	0	0	1	0	0	0	17287	991	35	5	2862	5	WDR36	5	110462497	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	16505	110462497	70452763	1521	99378											
APC	324	broad.mit.edu	37	chr5	112102935	112102935	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaaaactgcggtcaaaAatgtccctccgttcttatgg	10	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:112102935A>G	uc010jby.2	+	4	650	c.270A>G	c.(268-270)AAA>AAG	p.K90K	APC_uc011cvt.1_Silent_p.K100K|APC_uc003kpz.3_Silent_p.K90K|APC_uc003kpy.3_Silent_p.K90K|APC_uc010jbz.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	90	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			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		TGCGGTCAAAAATGTCCCTCC	0.403		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112102935	A	G	112102935	2	3	189	1	0	0	0	0	0	0	0	1	763	11	1	3		3	APC	5	112102935	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1640438	112102935	68812325	1522	99379											
APC	324	broad.mit.edu	37	chr5	112176628	112176628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcaccagtaaaacctatAccacaaaatactgaatatag	3	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:112176628A>G	uc010jby.2	+	16	5717	c.5337A>G	c.(5335-5337)ATA>ATG	p.I1779M	APC_uc011cvt.1_Missense_Mutation_p.I1761M|APC_uc003kpz.3_Missense_Mutation_p.I1779M|APC_uc003kpy.3_Missense_Mutation_p.I1779M|APC_uc010jbz.2_Missense_Mutation_p.I1496M|APC_uc010jca.2_Missense_Mutation_p.I1079M	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1779	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.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		TAAAACCTATACCACAAAATA	0.358		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112176628	A	G	112176628	3	3	189	1	0	0	0	0	1	0	0	0	763	381	14	3	5395	3	APC	5	112176628	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	73693	112176628	68738632	1523	99380											
REEP5	7905	broad.mit.edu	37	chr5	112222733	112222733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttagtgatggcatctgCagtctctttggccttgtctt	9	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:112222733C>T	uc003kqe.1	-	4	643	c.499G>A	c.(499-501)GCA>ACA	p.A167T	SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron|REEP5_uc011cvw.1_Missense_Mutation_p.A140T|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_RNA	NM_005669	NP_005660	Q00765	REEP5_HUMAN	receptor accessory protein 5	167						integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		ATGGCATCTGCAGTCTCTTTG	0.502													T	112222733	C	T	112222733	3	4	189	1	0	0	0	0	1	0	0	0	13208	710	25	2	78	2	REEP5	5	112222733	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	46105	112222733	68692527	1524	99381											
YTHDC2	64848	broad.mit.edu	37	chr5	112915375	112915375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttgatgagtggctccatTtcacactggagccagaggta	11	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:112915375T>C	uc003kqn.2	+	24	3520	c.3337T>C	c.(3337-3339)TTC>CTC	p.F1113L		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1113							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		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)		GTGGCTCCATTTCACACTGGA	0.358													C	112915375	T	C	112915375	3	2	189	1	0	0	0	0	1	0	0	0	17494	1841	64	3	3431	3	YTHDC2	5	112915375	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	692642	112915375	67999885	1525	99382											
TRIM36	55521	broad.mit.edu	37	chr5	114469592	114469592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaagaatcaattctctgCtgcaaggactacagattgaa	8	7	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:114469592C>T	uc003kqs.2	-	8	2008	c.1499G>A	c.(1498-1500)AGC>AAC	p.S500N	TRIM36_uc011cwc.1_Missense_Mutation_p.S488N|TRIM36_uc003kqt.2_Missense_Mutation_p.S345N	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	500	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		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)		CAATTCTCTGCTGCAAGGACT	0.373													T	114469592	C	T	114469592	3	4	189	1	0	0	0	0	1	0	0	0	16507	797	28	2	699	2	TRIM36	5	114469592	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1554217	114469592	66445668	1526	99383											
PGGT1B	5229	broad.mit.edu	37	chr5	114572137	114572137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatatccatgcctgaccAgttgttgagcatatagcaaa	7	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:114572137A>G	uc003kqw.3	-	5	583	c.562T>C	c.(562-564)TGG>CGG	p.W188R	PGGT1B_uc003kqx.3_Missense_Mutation_p.W65R|PGGT1B_uc010jch.2_Missense_Mutation_p.W188R	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	188					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	ATGCCTGACCAGTTGTTGAGC	0.363													G	114572137	A	G	114572137	3	3	189	1	0	0	0	0	1	0	0	0	11789	188	7	3	591	3	PGGT1B	5	114572137	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	102545	114572137	66343123	1527	99384											
TMED7-TICAM2	100302736	broad.mit.edu	37	chr5	114916287	114916287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatatttcttgtctcttTccatatagtttgttgtgtct	5	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:114916287T>C	uc003krd.2	-	4	1673	c.667A>G	c.(667-669)AAA>GAA	p.K223E	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.K392E|TICAM2_uc003krc.2_Missense_Mutation_p.K223E	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	223	TIR.				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						CTTGTCTCTTTCCATATAGTT	0.353													C	114916287	T	C	114916287	3	2	189	1	0	0	0	0	1	0	0	0	16007	1792	62	3		3	TMED7-TICAM2	5	114916287	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	344150	114916287	65998973	1528	99385											
TMED7-TICAM2	100302736	broad.mit.edu	37	chr5	114916505	114916505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacgtatagaactggaaaTtacaccaagtatctcttaaa	8	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:114916505T>C	uc003krd.2	-	4	1455	c.449A>G	c.(448-450)AAT>AGT	p.N150S	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.N319S|TICAM2_uc003krc.2_Missense_Mutation_p.N150S	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	150	TIR.				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						GAACTGGAAATTACACCAAGT	0.413													C	114916505	T	C	114916505	3	2	189	1	0	0	0	0	1	0	0	0	16007	1493	52	3		3	TMED7-TICAM2	5	114916505	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	218	114916505	65998755	1529	99386											
AQPEP	206338	broad.mit.edu	37	chr5	115338562	115338562	+	Frame_Shift_Del	DEL	A	A	-													attgtccctattctttggatAaaaaatggaactacacaacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:115338561_115338561TA>T	uc003kro.3	+	10	2014	c.1850_1850TA>T	c.(1849-1851)atafs	p.I617fs	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	617					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATTCTTTGGATAAAAAATGGA	0.303													-	115338562	A	-	115338562	7	5	189	1	0	1	0	1	0	0	0	0	834	352	13	0	1893	0	AQPEP	5	115338562	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	422057	115338562	65576698	1530	99387											
SEMA6A	57556	broad.mit.edu	37	chr5	115813736	115813736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcccatatcgttcacaCcggccaaggggaacctttat	7	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:115813736C>T	uc010jck.2	-	14	2251	c.1542G>A	c.(1540-1542)CGG>CGA	p.R514R	SEMA6A_uc003krx.3_Silent_p.R514R|SEMA6A_uc003krw.3_Silent_p.R46R|SEMA6A_uc010jcj.2_Silent_p.R58R	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	514	Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		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)		ATCGTTCACACCGGCCAAGGG	0.463													T	115813736	C	T	115813736	2	4	189	1	0	0	0	0	0	0	0	1	14039	494	18	4		4	SEMA6A	5	115813736	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	475174	115813736	65101524	1531	99388											
DMXL1	1657	broad.mit.edu	37	chr5	118485923	118485923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagatgaagaaaatacaaaGcctagagttattgacctttc	7	7	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:118485923G>A	uc003ksd.2	+	18	4582	c.4401G>A	c.(4399-4401)AAG>AAA	p.K1467K	DMXL1_uc010jcl.1_Silent_p.K1467K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1467										ovary(2)	2		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)		AAAATACAAAGCCTAGAGTTA	0.373													A	118485923	G	A	118485923	2	1	189	1	0	0	0	0	0	0	0	1	4594	962	34	2		2	DMXL1	5	118485923	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2672187	118485923	62429337	1532	99389											
CEP120	153241	broad.mit.edu	37	chr5	122717893	122717893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccagttctttctgcttcAgctacaaaaggaagaaaaat	8	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:122717893A>G	uc003ktk.2	-	15	2097	c.2015T>C	c.(2014-2016)CTG>CCG	p.L672P	CEP120_uc011cwq.1_Missense_Mutation_p.L481P|CEP120_uc010jcz.1_Missense_Mutation_p.L646P	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	672	Potential.					centrosome				ovary(1)	1						TTTCTGCTTCAGCTACAAAAG	0.363													G	122717893	A	G	122717893	3	3	189	1	0	0	0	0	1	0	0	0	3246	202	7	3	973	3	CEP120	5	122717893	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4231970	122717893	58197367	1533	99390											
CEP120	153241	broad.mit.edu	37	chr5	122726848	122726848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccacagacactcccaCagttggggctagctccacag	10	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:122726848C>T	uc003ktk.2	-	8	1076	c.994G>A	c.(994-996)GTG>ATG	p.V332M	CEP120_uc011cwq.1_Missense_Mutation_p.V141M|CEP120_uc010jcz.1_Missense_Mutation_p.V306M	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	332						centrosome				ovary(1)	1						GACACTCCCACAGTTGGGGCT	0.537													T	122726848	C	T	122726848	3	4	189	1	0	0	0	0	1	0	0	0	3246	478	17	4	2022	4	CEP120	5	122726848	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8955	122726848	58188412	1534	99391											
CSNK1G3	1456	broad.mit.edu	37	chr5	122911547	122911547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacattatagattttggttTggcaaaggaatatattgatc	8	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:122911547T>C	uc003ktm.2	+	6	1282	c.563T>C	c.(562-564)TTG>TCG	p.L188S	CSNK1G3_uc003ktl.2_Missense_Mutation_p.L188S|CSNK1G3_uc003ktn.2_Missense_Mutation_p.L188S|CSNK1G3_uc003kto.2_Missense_Mutation_p.L188S|CSNK1G3_uc011cwr.1_Missense_Mutation_p.L113S|CSNK1G3_uc011cws.1_Missense_Mutation_p.L75S|CSNK1G3_uc010jda.2_Missense_Mutation_p.L188S	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	188	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GATTTTGGTTTGGCAAAGGAA	0.363													C	122911547	T	C	122911547	3	2	189	1	0	0	0	0	1	0	0	0	3956	1821	63	3	581	3	CSNK1G3	5	122911547	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	184699	122911547	58003713	1535	99392											
LMNB1	4001	broad.mit.edu	37	chr5	126156662	126156662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagcatcctcaagtcgTagtgtacgtacaactagagg	10	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:126156662T>C	uc003kud.1	+	7	1589	c.1221T>C	c.(1219-1221)CGT>CGC	p.R407R	LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Silent_p.R197R	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	407	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CCTCAAGTCGTAGTGTACGTA	0.448													C	126156662	T	C	126156662	2	2	189	1	0	0	0	0	0	0	0	1	8849	1625	57	3		3	LMNB1	5	126156662	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3245115	126156662	54758598	1536	99393											
FBN2	2201	broad.mit.edu	37	chr5	127599336	127599336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcattgggattggagCattcattctcatctagtgaa	10	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:127599336C>T	uc003kuu.2	-	63	8412	c.7973G>A	c.(7972-7974)TGC>TAC	p.C2658Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2658	EGF-like 46; 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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GGGATTGGAGCATTCATTCTC	0.512													T	127599336	C	T	127599336	3	4	189	1	0	0	0	0	1	0	0	0	5703	710	25	2	777	2	FBN2	5	127599336	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1442674	127599336	53315924	1537	99394											
FBN2	2201	broad.mit.edu	37	chr5	127647035	127647035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtagtagccttgtggGcactcacactggaagctccc	12	12	1	1	rs147452231	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:127647035G>A	uc003kuu.2	-	39	5470	c.5031C>T	c.(5029-5031)TGC>TGT	p.C1677C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1677	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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		AGCCTTGTGGGCACTCACACT	0.483													A	127647035	G	A	127647035	2	1	189	1	0	0	0	0	0	0	0	1	5703	1195	42	2		2	FBN2	5	127647035	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	47699	127647035	53268225	1538	99395											
ADAMTS19	171019	broad.mit.edu	37	chr5	128861990	128861990	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagataaaggaagaccTaggtctagaaaaatagcaga	11	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:128861990T>A	uc003kvb.1	+	4	909	c.909T>A	c.(907-909)CCT>CCA	p.P303P	ADAMTS19_uc003kvc.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	303					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		AAGGAAGACCTAGGTCTAGAA	0.343													A	128861990	T	A	128861990	2	1	189	1	0	0	0	0	0	0	0	1	264	1509	53	5		5	ADAMTS19	5	128861990	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1214955	128861990	52053270	1539	99396											
ADAMTS19	171019	broad.mit.edu	37	chr5	129015545	129015545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggaactaccgttcaTtatgtaagacgaggcctctg	11	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:129015545T>G	uc003kvb.1	+	17	2577	c.2577T>G	c.(2575-2577)CAT>CAG	p.H859Q	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	859	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		CTACCGTTCATTATGTAAGAC	0.438													G	129015545	T	G	129015545	3	3	189	1	0	0	0	0	1	0	0	0	264	1490	52	5	2643	5	ADAMTS19	5	129015545	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	153555	129015545	51899715	1540	99397											
PDLIM4	8572	broad.mit.edu	37	chr5	131606779	131606779	+	Frame_Shift_Del	DEL	C	C	-													gcaccctgcatgtgtctccaCcccccaggtagcacagagat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:131606778_131606778AC>A	uc003kwo.3	+	3	575	c.498_498AC>A	c.(496-498)ccafs	p.P166fs	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Frame_Shift_Del_p.P166fs|PDLIM4_uc003kwp.3_Frame_Shift_Del_p.P166fs	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	166							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCCACCCCCCAGGT	0.592													-	131606779	C	-	131606779	7	5	189	1	0	1	0	1	0	0	0	0	11682	507	18	0	513	0	PDLIM4	5	131606779	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	2591234	131606779	49308481	1541	99398											
IRF1	3659	broad.mit.edu	37	chr5	131822004	131822005	+	Frame_Shift_Del	DEL	CA	CA	-													agatcactggtgctgtccggCacaacttccactgggatgtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:131822003_131822004GCA>G	uc003kxa.2	-	6	840_841	c.606_607TGC>C	c.(604-609)gtgccgfs	p.V202fs	C5orf56_uc010jds.2_Frame_Shift_Del_p.G55fs|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Frame_Shift_Del_p.V202fs|IRF1_uc010jdt.2_Frame_Shift_Del_p.V202fs	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	202					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)		GTGCTGTCCGGCACAACTTCCA	0.594													-	131822005	CA	-	131822004	7	5	189	1	0	1	0	1	0	0	0	0	7827	697	25	0	387	0	IRF1	5	131822004	Frame_Shift_Del	DEL	CA	TCGA-CG-5721-01A-11D-1600-08	215225	131822004	49093256	1542	99399											
RAD50	10111	broad.mit.edu	37	chr5	131953957	131953957	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaacttgtgaacaaggaTctggatatttattataagac	8	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:131953957T>G	uc003kxi.2	+	21	3747	c.3360T>G	c.(3358-3360)GAT>GAG	p.D1120E	RAD50_uc003kxh.2_Missense_Mutation_p.D981E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1120					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			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAACAAGGATCTGGATATTT	0.328								Homologous_recombination					G	131953957	T	G	131953957	3	3	189	1	0	0	0	0	1	0	0	0	12984	1432	50	5	3442	5	RAD50	5	131953957	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	131953	131953957	48961303	1543	99400											
KIF3A	11127	broad.mit.edu	37	chr5	132070038	132070038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatcagtcttatgtacagTgatagttcccctcatctcat	6	10	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:132070038T>C	uc003kxo.2	-	2	293	c.139A>G	c.(139-141)ACT>GCT	p.T47A	KIF3A_uc003kxn.2_Missense_Mutation_p.T6A|KIF3A_uc011cxf.1_Missense_Mutation_p.T47A|KIF3A_uc003kxp.2_Missense_Mutation_p.T47A	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	47	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTATGTACAGTGATAGTTCCC	0.398													C	132070038	T	C	132070038	3	2	189	1	0	0	0	0	1	0	0	0	8300	1696	59	3	2024	3	KIF3A	5	132070038	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	116081	132070038	48845222	1544	99401											
SHROOM1	134549	broad.mit.edu	37	chr5	132158969	132158969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtcgctgtctgaggcCgcccgggccagggcgcggcg	19	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:132158969C>T	uc003kxx.2	-	9	3004	c.2199G>A	c.(2197-2199)GCG>GCA	p.A733A	SHROOM1_uc003kxy.1_Silent_p.A733A	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	733	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTGAGGCCGCCCGGGCCA	0.682													T	132158969	C	T	132158969	2	4	189	1	0	0	0	0	0	0	0	1	14293	639	23	1		1	SHROOM1	5	132158969	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	88931	132158969	48756291	1545	99402											
AFF4	27125	broad.mit.edu	37	chr5	132220768	132220768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataataaaattttacctacCttcccaagccaggcgatggt	6	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:132220768C>A	uc003kyd.2	-	19	3551	c.3143G>T	c.(3142-3144)AGC>ATC	p.S1048I	AFF4_uc011cxk.1_Missense_Mutation_p.S726I	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	1048					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTACCTACCTTCCCAAGCC	0.299													A	132220768	C	A	132220768	3	1	189	1	0	0	0	0	1	0	0	0	359	695	24	5	360	5	AFF4	5	132220768	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61799	132220768	48694492	1546	99403											
HSPA4	3308	broad.mit.edu	37	chr5	132424147	132424147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatagttggtggtgctacacGaatccctgcggtaaaagaga	13	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:132424147G>A	uc003kyj.2	+	9	1318	c.1037G>A	c.(1036-1038)CGA>CAA	p.R346Q		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	346					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGCTACACGAATCCCTGCG	0.348													A	132424147	G	A	132424147	3	1	189	1	0	0	0	0	1	0	0	0	7412	1058	37	1	1071	1	HSPA4	5	132424147	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	203379	132424147	48491113	1547	99404											
HSPA4	3308	broad.mit.edu	37	chr5	132428415	132428415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaagtggaccaggaggaAccacatgttgaagagcaaca	12	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:132428415A>G	uc003kyj.2	+	13	1865	c.1584A>G	c.(1582-1584)GAA>GAG	p.E528E		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	528					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCAGGAGGAACCACATGTTG	0.388													G	132428415	A	G	132428415	2	3	189	1	0	0	0	0	0	0	0	1	7412	40	2	3		3	HSPA4	5	132428415	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4268	132428415	48486845	1548	99405											
FSTL4	23105	broad.mit.edu	37	chr5	132535212	132535212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcagctgcagcactgaCtatgaagcgcccgtcggggg	15	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:132535212C>T	uc003kyn.1	-	16	2322	c.2104G>A	c.(2104-2106)GTC>ATC	p.V702I	FSTL4_uc003kym.1_Missense_Mutation_p.V351I	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	702						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCACTGACTATGAAGCGC	0.592													T	132535212	C	T	132535212	3	4	189	1	0	0	0	0	1	0	0	0	6079	565	20	4	428	4	FSTL4	5	132535212	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	106797	132535212	48380048	1549	99406											
TCF7	6932	broad.mit.edu	37	chr5	133473800	133473800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaactctctctctacgaAcatttcaacagcccacatcc	2	19	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:133473800A>G	uc003kyt.2	+	4	688	c.492A>G	c.(490-492)GAA>GAG	p.E164E	TCF7_uc003kyu.1_Silent_p.E49E|TCF7_uc003kyv.2_Silent_p.E49E|TCF7_uc003kyw.2_Silent_p.E49E|TCF7_uc003kyx.2_5'UTR|TCF7_uc003kyy.2_Silent_p.E49E|TCF7_uc003kyz.2_Silent_p.E49E|TCF7_uc003kza.2_Silent_p.E49E	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	164					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				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCTACGAACATTTCAACA	0.587													G	133473800	A	G	133473800	2	3	189	1	0	0	0	0	0	0	0	1	15693	40	2	3		3	TCF7	5	133473800	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	938588	133473800	47441460	1550	99407											
PPP2CA	5515	broad.mit.edu	37	chr5	133536726	133536726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgatatgatccagtgTatctatagatggcgagagac	11	7	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:133536726T>C	uc003kze.2	-	4	924	c.526A>G	c.(526-528)ACA>GCA	p.T176A		NM_002715	NP_002706	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha	176					ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|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|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity			ovary(2)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TGATCCAGTGTATCTATAGAT	0.353													C	133536726	T	C	133536726	3	2	189	1	0	0	0	0	1	0	0	0	12380	1638	57	3	419	3	PPP2CA	5	133536726	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	62926	133536726	47378534	1551	99408											
PPP2CA	5515	broad.mit.edu	37	chr5	133561534	133561534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactggtccagctccttggTgaacaccttctcgtccatga	8	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:133561534T>C	uc003kze.2	-	1	417	c.19A>G	c.(19-21)ACC>GCC	p.T7A	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron	NM_002715	NP_002706	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha	7					ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|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|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity			ovary(2)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	AGCTCCTTGGTGAACACCTTC	0.677													C	133561534	T	C	133561534	3	2	189	1	0	0	0	0	1	0	0	0	12380	1696	59	3	938	3	PPP2CA	5	133561534	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	24808	133561534	47353726	1552	99409											
CDKL3	51265	broad.mit.edu	37	chr5	133634349	133634349	+	Frame_Shift_Del	DEL	A	A	-													aaaagaaaagacactaccagAaaaaaaacctgtttctcttc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:133634348_133634348GA>G	uc003kzf.4	-	12	1892	c.1773_1773TC>C	c.(1771-1773)ttcfs	p.F591fs	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.2_3'UTR	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	591						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)			GACACTACCAGAAAAAAAACC	0.358													-	133634349	A	-	133634349	7	5	189	1	0	1	0	1	0	0	0	0	3155	246	9	0	10	0	CDKL3	5	133634349	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	72815	133634349	47280911	1553	99410											
SEC24A	10802	broad.mit.edu	37	chr5	133997278	133997278	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagcttcataaagtcaggTagtattcttatagaagtgct	8	5	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:133997278T>C	uc003kzs.2	+	2	853	c.565_splice	c.e2+2	p.G189_splice	SEC24A_uc011cxu.1_Splice_Site	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A						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				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAAGTCAGGTAGTATTCTTA	0.303													C	133997278	T	C	133997278	5	2	189	1	0	0	0	0	0	0	1	0	13994	1652	57	3	573	3	SEC24A	5	133997278	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	362929	133997278	46917982	1554	99411											
SEC24A	10802	broad.mit.edu	37	chr5	134044487	134044487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactccctttcagcttaccGttcttcagtcttaagtaacc	5	13	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:134044487G>A	uc003kzs.2	+	18	2924	c.2636G>A	c.(2635-2637)CGT>CAT	p.R879H	SEC24A_uc011cxu.1_Missense_Mutation_p.R643H	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	879					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				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCTTACCGTTCTTCAGTC	0.468													A	134044487	G	A	134044487	3	1	189	1	0	0	0	0	1	0	0	0	13994	1145	40	1	2706	1	SEC24A	5	134044487	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	47209	134044487	46870773	1555	99412											
DDX46	9879	broad.mit.edu	37	chr5	134109545	134109545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagtggagtttagaggacGatgatggtatattttttagc	12	2	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:134109545G>A	uc003kzw.2	+	5	775	c.607G>A	c.(607-609)GAT>AAT	p.D203N	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	203	Poly-Asp.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTAGAGGACGATGATGGTAT	0.318													A	134109545	G	A	134109545	3	1	189	1	0	0	0	0	1	0	0	0	4364	1058	37	1	625	1	DDX46	5	134109545	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	65058	134109545	46805715	1556	99413											
KLHL3	26249	broad.mit.edu	37	chr5	137056206	137056206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatgtgggcagggttgaCagtgatcgtcctctggttct	13	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:137056206C>T	uc010jek.2	-	2	526	c.82G>A	c.(82-84)GTC>ATC	p.V28I	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	28						cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		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)		GCAGGGTTGACAGTGATCGTC	0.502													T	137056206	C	T	137056206	3	4	189	1	0	0	0	0	1	0	0	0	8383	478	17	4	1737	4	KLHL3	5	137056206	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2946661	137056206	43859054	1557	99414											
PKD2L2	27039	broad.mit.edu	37	chr5	137271556	137271556	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagtattattctatggaaaTtcaagatgactaccagcctg	7	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:137271556T>A	uc003lby.2	+	13	1798	c.1742T>A	c.(1741-1743)ATT>AAT	p.I581N	PKD2L2_uc003lbw.1_Missense_Mutation_p.I581N|PKD2L2_uc003lbx.2_Missense_Mutation_p.I480N|PKD2L2_uc011cyi.1_Missense_Mutation_p.I189N	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	581	Cytoplasmic (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTATGGAAATTCAAGATGAC	0.398													A	137271556	T	A	137271556	3	1	189	1	0	0	0	0	1	0	0	0	11968	1493	52	5	1792	5	PKD2L2	5	137271556	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	215350	137271556	43643704	1558	99415											
NME5	8382	broad.mit.edu	37	chr5	137454576	137454576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttggcattatatgtaaAtttaaatagtccttagcagc	8	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:137454576A>C	uc003lce.2	-	5	564	c.486T>G	c.(484-486)AAT>AAG	p.N162K	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	162					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTATATGTAAATTTAAATAGT	0.328													C	137454576	A	C	137454576	3	2	189	1	0	0	0	0	1	0	0	0	10494	98	4	5	160	5	NME5	5	137454576	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	183020	137454576	43460684	1559	99416											
CDC23	8697	broad.mit.edu	37	chr5	137533902	137533902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaccaattacacagcacGtttctacacgatatttatca	3	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:137533902G>A	uc003lcl.2	-	9	1029	c.998C>T	c.(997-999)ACG>ATG	p.T333M		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	333	TPR 5.				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				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACACAGCACGTTTCTACACG	0.264													A	137533902	G	A	137533902	3	1	189	1	0	0	0	0	1	0	0	0	3061	1145	40	1	827	1	CDC23	5	137533902	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	79326	137533902	43381358	1560	99417											
KDM3B	51780	broad.mit.edu	37	chr5	137727078	137727078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagccaggctctaaggctgGcagctctgtggaccggaaag	14	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:137727078G>T	uc003lcy.1	+	8	1957	c.1757G>T	c.(1756-1758)GGC>GTC	p.G586V	KDM3B_uc010jew.1_Missense_Mutation_p.G242V|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	586					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			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TCTAAGGCTGGCAGCTCTGTG	0.557													T	137727078	G	T	137727078	3	4	189	1	0	0	0	0	1	0	0	0	8127	1203	42	5	1787	5	KDM3B	5	137727078	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	193176	137727078	43188182	1561	99418											
CTNNA1	1495	broad.mit.edu	37	chr5	138269585	138269585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtcgcctctaccaaatAccaaaagtcacagggtatgg	8	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:138269585A>G	uc003ldh.2	+	18	2623	c.2528A>G	c.(2527-2529)TAC>TGC	p.Y843C	CTNNA1_uc011cyx.1_Missense_Mutation_p.Y740C|CTNNA1_uc011cyy.1_Missense_Mutation_p.Y720C|CTNNA1_uc003ldi.2_Missense_Mutation_p.Y541C|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.Y473C	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	843					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTACCAAATACCAAAAGTCA	0.507													G	138269585	A	G	138269585	3	3	189	1	0	0	0	0	1	0	0	0	4012	391	14	3	2594	3	CTNNA1	5	138269585	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	542507	138269585	42645675	1562	99419											
SLC23A1	9963	broad.mit.edu	37	chr5	138714371	138714371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgccttcggtgaagatgCccctgtaaggaaagggagag	14	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:138714371C>T	uc003leh.2	-	10	1173	c.1076G>A	c.(1075-1077)GGC>GAC	p.G359D	SLC23A1_uc003leg.2_Missense_Mutation_p.G363D	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	359	Helical; (Potential).				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				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GGTGAAGATGCCCCTGTAAGG	0.607													T	138714371	C	T	138714371	3	4	189	1	0	0	0	0	1	0	0	0	14462	739	26	2	740	2	SLC23A1	5	138714371	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	444786	138714371	42200889	1563	99420											
PSD2	84249	broad.mit.edu	37	chr5	139193808	139193808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactctgagctcagcagctCggaggggttggagcctggta	16	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:139193808C>T	uc003leu.1	+	4	1080	c.875C>T	c.(874-876)TCG>TTG	p.S292L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	292	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCAGCTCGGAGGGGTTG	0.632													T	139193808	C	T	139193808	3	4	189	1	0	0	0	0	1	0	0	0	12647	893	31	1	885	1	PSD2	5	139193808	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	479437	139193808	41721452	1564	99421											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139884751	139884751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacactagcttgtgcaggTggtcatgaagaacttgtatc	10	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:139884751T>C	uc003lfs.1	+	17	3319	c.3195T>C	c.(3193-3195)GGT>GGC	p.G1065G	ANKHD1_uc003lfq.1_Silent_p.G1084G|ANKHD1_uc003lfr.2_Silent_p.G1065G|ANKHD1_uc003lft.1_Silent_p.G276G|ANKHD1_uc003lfu.1_Silent_p.G545G|ANKHD1_uc003lfv.1_Silent_p.G142G	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1065						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGTGCAGGTGGTCATGAAG	0.338													C	139884751	T	C	139884751	2	2	189	1	0	0	0	0	0	0	0	1	629	1683	59	3		3	ANKHD1-EIF4EBP3	5	139884751	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	690943	139884751	41030509	1565	99422											
SLC35A4	113829	broad.mit.edu	37	chr5	139947472	139947472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtctgcatgctggcggcGgctctggcccaggcctcctg	15	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:139947472G>A	uc003lgg.1	+	3	1446	c.718G>A	c.(718-720)GGC>AGC	p.G240S	SLC35A4_uc003lgh.1_Missense_Mutation_p.G240S	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	240	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGCGGCGGCTCTGGCCC	0.572													A	139947472	G	A	139947472	3	1	189	1	0	0	0	0	1	0	0	0	14573	1116	39	1	720	1	SLC35A4	5	139947472	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	62721	139947472	40967788	1566	99423											
HARS	3035	broad.mit.edu	37	chr5	140057538	140057538	+	Frame_Shift_Del	DEL	C	C	-													agtgaactcaggatctcgcaCatgatcttcaggcactctgc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140057537_140057537AC>A	uc003lgv.3	-	5	668	c.586_586GT>T	c.(586-588)tgcfs	p.C196fs	HARS_uc003lgu.3_Frame_Shift_Del_p.C127fs|HARS_uc011czm.2_Frame_Shift_Del_p.C156fs|HARS_uc003lgw.3_Frame_Shift_Del_p.C176fs|HARS_uc011czn.2_Frame_Shift_Del_p.C136fs|HARS_uc011czo.2_Frame_Shift_Del_p.C122fs|HARS_uc011czp.2_Frame_Shift_Del_p.C82fs|HARS_uc011czq.2_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	196					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)	AGGATCTCGCACATGATCTTC	0.532													-	140057538	C	-	140057538	7	5	189	1	0	1	0	1	0	0	0	0	6959	478	17	0	976	0	HARS	5	140057538	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	110066	140057538	40857722	1567	99424											
PCDHAC2	56134	broad.mit.edu	37	chr5	140181371	140181372	+	Frame_Shift_Ins	INS	-	-	A													atcccttggactcgtgttgaINSaaaaaaatttaaatcgagag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140181370_140181371G>GA	uc003lhf.2	+	0	588_589	c.588_589G>GA	c.(586-591)ttgaaafs	p.L196fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Frame_Shift_Ins_p.L196fs	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	211	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)			GACTCGTGTTGAAAAAAAATTT	0.361													A	140181372	-	A	140181371	7	5	189	1	0	1	1	0	0	0	0	0	11533	247	9	0		0	PCDHAC2	5	140181371	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	123833	140181371	40733889	1568	99425											
PCDHA4	56144	broad.mit.edu	37	chr5	140188651	140188651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgttccgcgtggggctgTacactggcgagatcagcaca	13	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140188651T>C	uc003lhi.2	+	1	1980	c.1879T>C	c.(1879-1881)TAC>CAC	p.Y627H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.Y627H|PCDHA4_uc011daa.1_Missense_Mutation_p.Y627H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	627	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGGCTGTACACTGGCGA	0.687													C	140188651	T	C	140188651	3	2	189	1	0	0	0	0	1	0	0	0	11526	1638	57	3	1881	3	PCDHA4	5	140188651	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7280	140188651	40726609	1569	99426											
PCDHA5	56143	broad.mit.edu	37	chr5	140203141	140203141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtggcgaaggtgcGcgcagtggaccctgattcgg	17	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140203141G>A	uc003lhl.2	+	1	1781	c.1781G>A	c.(1780-1782)CGC>CAC	p.R594H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R594H|PCDHA5_uc003lhj.1_Missense_Mutation_p.R594H	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	594	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.697													A	140203141	G	A	140203141	3	1	189	1	0	0	0	0	1	0	0	0	11527	1087	38	1	1783	1	PCDHA5	5	140203141	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	14490	140203141	40712119	1570	99427											
PCDHA5	56143	broad.mit.edu	37	chr5	140203465	140203465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgtgtacctgatcatcgCcatctgtgcggtgtccagcc	10	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140203465C>T	uc003lhl.2	+	1	2105	c.2105C>T	c.(2104-2106)GCC>GTC	p.A702V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A702V|PCDHA5_uc003lhj.1_Missense_Mutation_p.A702V	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	702	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCATCGCCATCTGTGCG	0.692													T	140203465	C	T	140203465	3	4	189	1	0	0	0	0	1	0	0	0	11527	739	26	2	2107	2	PCDHA5	5	140203465	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	324	140203465	40711795	1571	99428											
PCDHA7	56141	broad.mit.edu	37	chr5	140214272	140214272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgggcggagcgcggagTgcagcatccacctggaggtg	19	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140214272T>C	uc003lhq.2	+	1	304	c.304T>C	c.(304-306)TGC>CGC	p.C102R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.C102R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	102	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGGAGTGCAGCATCCA	0.562													C	140214272	T	C	140214272	3	2	189	1	0	0	0	0	1	0	0	0	11529	1696	59	3	306	3	PCDHA7	5	140214272	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10807	140214272	40700988	1572	99429											
PCDHA9	9752	broad.mit.edu	37	chr5	140229555	140229555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacgccctggtgtcctActcgctggtggagcggcggt	17	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140229555A>G	uc003lhu.2	+	1	2199	c.1475A>G	c.(1474-1476)TAC>TGC	p.Y492C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.Y492C	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	492	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTCCTACTCGCTGGTG	0.662													G	140229555	A	G	140229555	3	3	189	1	0	0	0	0	1	0	0	0	11531	391	14	3	1477	3	PCDHA9	5	140229555	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	15283	140229555	40685705	1573	99430											
PCDHA9	9752	broad.mit.edu	37	chr5	140229744	140229744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacgctgcaggtgttcgTgctggacgagaacgacaatg	15	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140229744T>C	uc003lhu.2	+	1	2388	c.1664T>C	c.(1663-1665)GTG>GCG	p.V555A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V555A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	555	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGTTCGTGCTGGACGAG	0.692													C	140229744	T	C	140229744	3	2	189	1	0	0	0	0	1	0	0	0	11531	1696	59	3	1666	3	PCDHA9	5	140229744	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	189	140229744	40685516	1574	99431											
PCDHA9	9752	broad.mit.edu	37	chr5	140230117	140230117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggcgccaaagtcatcGtcgcgggcgtcagtgggtgc	17	12	2	0	rs140380568	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140230117G>A	uc003lhu.2	+	1	2761	c.2037G>A	c.(2035-2037)TCG>TCA	p.S679S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S679S	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	679	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGTCATCGTCGCGGGCGT	0.657													A	140230117	G	A	140230117	2	1	189	1	0	0	0	0	0	0	0	1	11531	1132	40	1		1	PCDHA9	5	140230117	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	373	140230117	40685143	1575	99432											
PCDHA10	56139	broad.mit.edu	37	chr5	140236179	140236179	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattttgttcttgatattatAaacaaaaaagacaaagacaa	4	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140236179A>T	uc003lhx.2	+	1	546	c.546A>T	c.(544-546)ATA>ATT	p.I182I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.I182I|PCDHA10_uc011dad.1_Silent_p.I182I	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	182	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATATTATAAACAAAAAAG	0.408													T	140236179	A	T	140236179	2	4	189	1	0	0	0	0	0	0	0	1	11520	352	13	5		5	PCDHA10	5	140236179	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6062	140236179	40679081	1576	99433											
PCDHA11	56138	broad.mit.edu	37	chr5	140249416	140249416	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgacaatgatccagagtttgAtaaatcagaatataaggtga	9	5	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140249416A>T	uc003lia.2	+	1	1586	c.728A>T	c.(727-729)GAT>GTT	p.D243V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.D243V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	243	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAGTTTGATAAATCAGAA	0.458													T	140249416	A	T	140249416	3	4	189	1	0	0	0	0	1	0	0	0	11521	333	12	5	730	5	PCDHA11	5	140249416	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	13237	140249416	40665844	1577	99434											
PCDHA11	56138	broad.mit.edu	37	chr5	140250295	140250295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacagttccaggtgagcgCgcgcgatgcgggcgtgccgc	17	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140250295C>T	uc003lia.2	+	1	2465	c.1607C>T	c.(1606-1608)GCG>GTG	p.A536V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A536V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	536	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGATGCG	0.667													T	140250295	C	T	140250295	3	4	189	1	0	0	0	0	1	0	0	0	11521	768	27	1	1609	1	PCDHA11	5	140250295	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	879	140250295	40664965	1578	99435											
PCDHA13	56136	broad.mit.edu	37	chr5	140263420	140263420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtacgcgctgcagccgTtggaccacgaggagctggag	17	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140263420T>C	uc003lif.2	+	1	1567	c.1567T>C	c.(1567-1569)TTG>CTG	p.L523L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L523L|PCDHA13_uc003lid.2_Silent_p.L523L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	523	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682													C	140263420	T	C	140263420	2	2	189	1	0	0	0	0	0	0	0	1	11523	1722	60	3		3	PCDHA13	5	140263420	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	13125	140263420	40651840	1579	99436											
PCDHA13	56136	broad.mit.edu	37	chr5	140263984	140263984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcggtgtccagcctgTtggtgctcacgttgctgctg	14	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140263984T>C	uc003lif.2	+	1	2131	c.2131T>C	c.(2131-2133)TTG>CTG	p.L711L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L711L|PCDHA13_uc003lid.2_Silent_p.L711L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	711	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAGCCTGTTGGTGCTCAC	0.657													C	140263984	T	C	140263984	2	2	189	1	0	0	0	0	0	0	0	1	11523	1722	60	3		3	PCDHA13	5	140263984	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	564	140263984	40651276	1580	99437											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306707	140306707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccagcggcaatttggtggTcagagagccggcggaccgcg	16	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140306707T>C	uc003lih.2	+	1	406	c.230T>C	c.(229-231)GTC>GCC	p.V77A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.V77A	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	77	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTTGGTGGTCAGAGAGCCG	0.627													C	140306707	T	C	140306707	3	2	189	1	0	0	0	0	1	0	0	0	11532	1667	58	3	232	3	PCDHAC1	5	140306707	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	42723	140306707	40608553	1581	99438											
PCDHB5	26167	broad.mit.edu	37	chr5	140516540	140516540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtctccatcaacgcggaCaacggccacctgtttgccct	9	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140516540C>T	uc003liq.2	+	1	1741	c.1524C>T	c.(1522-1524)GAC>GAT	p.D508D		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	508	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAACGCGGACAACGGCCACC	0.677													T	140516540	C	T	140516540	2	4	189	1	0	0	0	0	0	0	0	1	11545	477	17	4		4	PCDHB5	5	140516540	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	209833	140516540	40398720	1582	99439											
PCDHB7	56129	broad.mit.edu	37	chr5	140554005	140554005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcgttcgagttccGcgtgggcgccacagaccgcg	15	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140554005G>A	uc003lit.2	+	1	1763	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.692													A	140554005	G	A	140554005	3	1	189	1	0	0	0	0	1	0	0	0	11547	1087	38	1	1591	1	PCDHB7	5	140554005	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	37465	140554005	40361255	1583	99440											
PCDHB16	57717	broad.mit.edu	37	chr5	140562720	140562720	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaataccctgagctagtgTtggataaagagctggatcgg	14	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140562720T>C	uc003liv.2	+	1	1741	c.586T>C	c.(586-588)TTG>CTG	p.L196L	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	196	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCTAGTGTTGGATAAAGA	0.488													C	140562720	T	C	140562720	2	2	189	1	0	0	0	0	0	0	0	1	11541	1722	60	3		3	PCDHB16	5	140562720	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	8715	140562720	40352540	1584	99441											
PCDHB9	56127	broad.mit.edu	37	chr5	140568285	140568285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgtccgggagaacaacaGccccgccctgcacatcggca	11	16	0	1	rs17844522		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140568285G>A	uc003liw.1	+	3	1394	c.1394G>A	c.(1393-1395)AGC>AAC	p.S465N		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	465	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACAACAGCCCCGCCCTG	0.627													A	140568285	G	A	140568285	3	1	189	1	0	0	0	0	1	0	0	0	11549	971	34	2	1395	2	PCDHB9	5	140568285	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5565	140568285	40346975	1585	99442											
PCDHB9	56127	broad.mit.edu	37	chr5	140568579	140568579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactcgcccttcgtgctgtAcccgctgcagaacggctccg	10	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140568579A>G	uc003liw.1	+	3	1688	c.1688A>G	c.(1687-1689)TAC>TGC	p.Y563C		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	563	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGTGCTGTACCCGCTGCAG	0.726													G	140568579	A	G	140568579	3	3	189	1	0	0	0	0	1	0	0	0	11549	391	14	3	1689	3	PCDHB9	5	140568579	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	294	140568579	40346681	1586	99443											
PCDHB10	56126	broad.mit.edu	37	chr5	140573462	140573462	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctccgacgtcaatgAcaacgcccccgccttcaccc	7	20	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140573462A>C	uc003lix.2	+	1	1511	c.1337A>C	c.(1336-1338)GAC>GCC	p.D446A		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	446	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGTCAATGACAACGCCCCC	0.587													C	140573462	A	C	140573462	3	2	189	1	0	0	0	0	1	0	0	0	11535	275	10	5	1339	5	PCDHB10	5	140573462	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4883	140573462	40341798	1587	99444											
PCDHB12	56124	broad.mit.edu	37	chr5	140590145	140590145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggtgctggacgccaacGacaactcgcccttcgtgctg	12	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140590145G>A	uc003liz.2	+	1	1855	c.1666G>A	c.(1666-1668)GAC>AAC	p.D556N	PCDHB12_uc011dak.1_Missense_Mutation_p.D219N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	556	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGCCAACGACAACTCGCC	0.711													A	140590145	G	A	140590145	3	1	189	1	0	0	0	0	1	0	0	0	11537	1058	37	1	1668	1	PCDHB12	5	140590145	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	16683	140590145	40325115	1588	99445											
PCDHB12	56124	broad.mit.edu	37	chr5	140590290	140590290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacgcctggctgtcgtAccagctgctcaaggccacgg	12	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140590290A>G	uc003liz.2	+	1	2000	c.1811A>G	c.(1810-1812)TAC>TGC	p.Y604C	PCDHB12_uc011dak.1_Missense_Mutation_p.Y267C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	604	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCTGTCGTACCAGCTGCTC	0.716													G	140590290	A	G	140590290	3	3	189	1	0	0	0	0	1	0	0	0	11537	391	14	3	1813	3	PCDHB12	5	140590290	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	145	140590290	40324970	1589	99446											
PCDHGA4	56111	broad.mit.edu	37	chr5	140735157	140735157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgatgttaatgataacccAcccagttttgggacagaaca	8	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140735157A>G	uc003ljq.1	+	1	390	c.390A>G	c.(388-390)CCA>CCG	p.P130P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.P130P	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	130	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGATAACCCACCCAGTTTTG	0.418													G	140735157	A	G	140735157	2	3	189	1	0	0	0	0	0	0	0	1	11556	146	6	3		3	PCDHGA4	5	140735157	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	144867	140735157	40180103	1590	99447											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751421	140751421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggacctaatggccttgTctcctactacatcgtggcca	9	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140751421T>C	uc003ljw.1	+	1	1460	c.1460T>C	c.(1459-1461)GTC>GCC	p.V487A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V487A|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	487	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGCCTTGTCTCCTACTAC	0.632													C	140751421	T	C	140751421	3	2	189	1	0	0	0	0	1	0	0	0	11564	1667	58	3	1462	3	PCDHGB3	5	140751421	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	16264	140751421	40163839	1591	99448											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772702	140772702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgataaatattaacAccctggttgaggataaagga	11	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140772702A>G	uc003lkd.1	+	1	1220	c.322A>G	c.(322-324)ACC>GCC	p.T108A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.T108A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	108	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATATTAACACCCTGGTTGA	0.463													G	140772702	A	G	140772702	3	3	189	1	0	0	0	0	1	0	0	0	11560	159	6	3	324	3	PCDHGA8	5	140772702	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	21281	140772702	40142558	1592	99449											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782733	140782733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgtctctagaggtaggAcgcagcttttctctctgaac	10	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140782733A>G	uc003lkh.1	+	1	214	c.214A>G	c.(214-216)ACG>GCG	p.T72A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.T72A	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	72	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGTAGGACGCAGCTTTT	0.622													G	140782733	A	G	140782733	3	3	189	1	0	0	0	0	1	0	0	0	11561	275	10	3	216	3	PCDHGA9	5	140782733	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	10031	140782733	40132527	1593	99450											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782869	140782869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacagagtgaaactgtAcggaatagaaatagaagtaa	11	3	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140782869A>G	uc003lkh.1	+	1	350	c.350A>G	c.(349-351)TAC>TGC	p.Y117C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.Y117C	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	117	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAAACTGTACGGAATAGAA	0.493													G	140782869	A	G	140782869	3	3	189	1	0	0	0	0	1	0	0	0	11561	391	14	3	352	3	PCDHGA9	5	140782869	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	136	140782869	40132391	1594	99451											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794829	140794829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctcagacctcactctgtAcctggtggtagcggtggccg	12	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140794829A>G	uc003lkl.1	+	1	2087	c.2087A>G	c.(2086-2088)TAC>TGC	p.Y696C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.Y696C|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	696	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCTGTACCTGGTGGTA	0.652													G	140794829	A	G	140794829	3	3	189	1	0	0	0	0	1	0	0	0	11551	391	14	3	2089	3	PCDHGA10	5	140794829	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11960	140794829	40120431	1595	99452											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797840	140797840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattccggaaagatgaaatAaacttagaaatcagtgaatc	7	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140797840A>G	uc003lkn.1	+	1	559	c.414A>G	c.(412-414)ATA>ATG	p.I138M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.I138M|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	138	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGAAATAAACTTAGAAA	0.398													G	140797840	A	G	140797840	3	3	189	1	0	0	0	0	1	0	0	0	11568	352	13	3	416	3	PCDHGB7	5	140797840	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3011	140797840	40117420	1596	99453											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801979	140801979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccacctgccttttaaattAgaaaagacttatggaaatta	5	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140801979A>G	uc003lkq.1	+	1	1443	c.1185A>G	c.(1183-1185)TTA>TTG	p.L395L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.L395L|PCDHGA11_uc003lkp.1_Silent_p.L395L	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	395	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTAAATTAGAAAAGACTT	0.403													G	140801979	A	G	140801979	2	3	189	1	0	0	0	0	0	0	0	1	11552	417	15	3		3	PCDHGA11	5	140801979	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4139	140801979	40113281	1597	99454											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812322	140812322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcaccgtggccgtggccGacagcatcccccaagtcctg	11	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140812322G>A	uc003lkt.1	+	1	2165	c.1996G>A	c.(1996-1998)GAC>AAC	p.D666N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.D666N	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	666	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGTGGCCGACAGCATCCC	0.662													A	140812322	G	A	140812322	3	1	189	1	0	0	0	0	1	0	0	0	11553	1058	37	1	1998	1	PCDHGA12	5	140812322	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	10343	140812322	40102938	1598	99455											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865090	140865090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggtcctttggaaatgtAccgagcagaggtagagatcg	14	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140865090A>G	uc003lky.1	+	1	350	c.350A>G	c.(349-351)TAC>TGC	p.Y117C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.Y117C	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	117	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGAAATGTACCGAGCAGAG	0.572													G	140865090	A	G	140865090	3	3	189	1	0	0	0	0	1	0	0	0	11570	391	14	3	352	3	PCDHGC4	5	140865090	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	52768	140865090	40050170	1599	99456											
DIAPH1	1729	broad.mit.edu	37	chr5	140958698	140958698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttaatccatccagcagcGgctggaaacgttccacttca	7	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:140958698G>A	uc003llb.3	-	9	1031	c.890C>T	c.(889-891)CCG>CTG	p.P297L	DIAPH1_uc003llc.3_Missense_Mutation_p.P288L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	297	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGCAGCGGCTGGAAACG	0.453													A	140958698	G	A	140958698	3	1	189	1	0	0	0	0	1	0	0	0	4518	1116	39	1	3008	1	DIAPH1	5	140958698	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	93608	140958698	39956562	1600	99457											
PCDH1	5097	broad.mit.edu	37	chr5	141243673	141243673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccagagtcaaagtcctcGgctgccacctggctgaccgt	10	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:141243673G>A	uc003llq.2	-	3	2340	c.2223C>T	c.(2221-2223)GCC>GCT	p.A741A	PCDH1_uc003llp.2_Silent_p.A741A|PCDH1_uc011dbf.1_Silent_p.A719A	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	741	Extracellular (Potential).|Cadherin 7.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		CAAAGTCCTCGGCTGCCACCT	0.537													A	141243673	G	A	141243673	2	1	189	1	0	0	0	0	0	0	0	1	11506	1103	39	1		1	PCDH1	5	141243673	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	284975	141243673	39671587	1601	99458											
PCDH1	5097	broad.mit.edu	37	chr5	141248257	141248257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcagggcactgctggcGcgtggggggctgccgccatc	18	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:141248257G>A	uc003llq.2	-	2	897	c.780C>T	c.(778-780)CGC>CGT	p.R260R	PCDH1_uc003llp.2_Silent_p.R260R|PCDH1_uc011dbf.1_Silent_p.R238R	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	260	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		CACTGCTGGCGCGTGGGGGGC	0.602													A	141248257	G	A	141248257	2	1	189	1	0	0	0	0	0	0	0	1	11506	1074	38	1		1	PCDH1	5	141248257	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4584	141248257	39667003	1602	99459											
YIPF5	81555	broad.mit.edu	37	chr5	143540084	143540084	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagaaaaactacaccaTccaataatcccagcagtgag	7	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:143540084T>G	uc003lnk.3	-	6	1092	c.651A>C	c.(649-651)GGA>GGC	p.G217G	YIPF5_uc003lnl.3_Silent_p.G217G|YIPF5_uc010jgl.2_Silent_p.G163G	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	217	Helical; (Potential).				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)|skin(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AACTACACCATCCAATAATCC	0.373													G	143540084	T	G	143540084	2	3	189	1	0	0	0	0	0	0	0	1	17478	1422	50	5		5	YIPF5	5	143540084	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2291827	143540084	37375176	1603	99460											
KCTD16	57528	broad.mit.edu	37	chr5	143587110	143587110	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgaatatgtcttctaccGtaagtacaaagggttgtttt	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:143587110G>A	uc003lnm.1	+	3	1461	c.832_splice	c.e3+1	p.R278_splice	KCTD16_uc003lnn.1_Splice_Site_p.R278_splice	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTCTTCTACCGTAAGTACAAA	0.393													A	143587110	G	A	143587110	5	1	189	1	0	0	0	0	0	0	1	0	8103	1159	40	1	835	1	KCTD16	5	143587110	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	47026	143587110	37328150	1604	99461											
LARS	51520	broad.mit.edu	37	chr5	145493676	145493676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcatgagtttaatgaAccagatagattattgtatcg	9	4	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:145493676A>G	uc003lnx.1	-	32	3762	c.3524T>C	c.(3523-3525)GTT>GCT	p.V1175A	LARS_uc003lnw.1_Missense_Mutation_p.V333A|LARS_uc011dbq.1_Missense_Mutation_p.V1129A|LARS_uc011dbr.1_Missense_Mutation_p.V1121A|LARS_uc011dbs.1_Missense_Mutation_p.V1148A	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1175					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGTTTAATGAACCAGATAGAT	0.403													G	145493676	A	G	145493676	3	3	189	1	0	0	0	0	1	0	0	0	8634	43	2	3	10	3	LARS	5	145493676	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1906566	145493676	35421584	1605	99462											
GPR151	134391	broad.mit.edu	37	chr5	145895104	145895104	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcttcagccacagctggTacatccacgaggcacatttc	7	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:145895104T>C	uc003lod.1	-	1	573	c.573A>G	c.(571-573)GTA>GTG	p.V191V		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	191	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACAGCTGGTACATCCACGA	0.493													C	145895104	T	C	145895104	2	2	189	1	0	0	0	0	0	0	0	1	6657	1625	57	3		3	GPR151	5	145895104	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	401428	145895104	35020156	1606	99463											
DPYSL3	1809	broad.mit.edu	37	chr5	146792252	146792252	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaagatctcatagagCtgaaatagaaatgagtcttt	10	5	2	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:146792252C>T	uc003lon.1	-	6	651	c.541_splice	c.e6-1	p.L181_splice	DPYSL3_uc003loo.2_Splice_Site_p.L295_splice	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCATAGAGCTGAAATAGAA	0.498													T	146792252	C	T	146792252	5	4	189	1	0	0	0	0	0	0	1	0	4748	811	28	2	1208	2	DPYSL3	5	146792252	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	897148	146792252	34123008	1607	99464											
JAKMIP2	9832	broad.mit.edu	37	chr5	147019216	147019216	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggcttctcgttcagcgtcGatgatgcctcccgtctgctc	10	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:147019216G>A	uc003loq.1	-	10	1891	c.1509C>T	c.(1507-1509)ATC>ATT	p.I503I	JAKMIP2_uc011dbx.1_Silent_p.I461I|JAKMIP2_uc003lor.1_Silent_p.I503I|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.I503I	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	503	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCAGCGTCGATGATGCCTC	0.453													A	147019216	G	A	147019216	2	1	189	1	0	0	0	0	0	0	0	1	7941	1048	37	1		1	JAKMIP2	5	147019216	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	226964	147019216	33896044	1608	99465											
HTR4	3360	broad.mit.edu	37	chr5	147902878	147902878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcatcttgttcctatAgaccaaaggctggcagcaga	12	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:147902878A>G	uc003lpn.2	-	5	549	c.385T>C	c.(385-387)TAT>CAT	p.Y129H	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.Y129H|HTR4_uc003lpj.1_Missense_Mutation_p.Y129H|HTR4_uc003lpk.2_Missense_Mutation_p.Y129H|HTR4_uc011dby.1_Missense_Mutation_p.Y129H|HTR4_uc003lpl.2_Missense_Mutation_p.Y129H|HTR4_uc003lpm.2_Missense_Mutation_p.Y129H|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.Y129H	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	129	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TTGTTCCTATAGACCAAAGGC	0.502													G	147902878	A	G	147902878	3	3	189	1	0	0	0	0	1	0	0	0	7449	420	15	3	1089	3	HTR4	5	147902878	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	883662	147902878	33012382	1609	99466											
SH3TC2	79628	broad.mit.edu	37	chr5	148388499	148388499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatctgcagctctgtcagCttattgaaaatccggagctc	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:148388499C>T	uc003lpu.2	-	15	3545	c.3393G>A	c.(3391-3393)AAG>AAA	p.K1131K	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.K775K|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.K678K|SH3TC2_uc010jgx.2_Silent_p.K1124K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1131	TPR 6.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTGTCAGCTTATTGAAAA	0.532													T	148388499	C	T	148388499	2	4	189	1	0	0	0	0	0	0	0	1	14262	796	28	2		2	SH3TC2	5	148388499	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	485621	148388499	32526761	1610	99467											
SH3TC2	79628	broad.mit.edu	37	chr5	148388548	148388548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttcaacctccttgctAaaggaacagctccagcctag	7	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:148388548A>G	uc003lpu.2	-	15	3496	c.3344T>C	c.(3343-3345)TTA>TCA	p.L1115S	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L759S|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L662S|SH3TC2_uc010jgx.2_Missense_Mutation_p.L1108S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1115	TPR 5.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTGCTAAAGGAACAGC	0.478													G	148388548	A	G	148388548	3	3	189	1	0	0	0	0	1	0	0	0	14262	372	13	3	534	3	SH3TC2	5	148388548	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	49	148388548	32526712	1611	99468											
SH3TC2	79628	broad.mit.edu	37	chr5	148431762	148431762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattcagatgaggctatacActcactcgatacagttggat	9	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:148431762A>G	uc003lpu.2	-	2	246	c.94T>C	c.(94-96)TGT>CGT	p.C32R	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.C32R|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.C32R	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	32							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCTATACACTCACTCGAT	0.383													G	148431762	A	G	148431762	3	3	189	1	0	0	0	0	1	0	0	0	14262	159	6	3	3836	3	SH3TC2	5	148431762	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	43214	148431762	32483498	1612	99469											
ABLIM3	22885	broad.mit.edu	37	chr5	148617149	148617149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgacgagatgctggagAgatgtggctatggagaggta	17	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:148617149A>G	uc003lpy.2	+	11	1278	c.1027A>G	c.(1027-1029)AGA>GGA	p.R343G	ABLIM3_uc003lpz.1_Missense_Mutation_p.R343G|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.R343G|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	343					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTGGAGAGATGTGGCTA	0.542													G	148617149	A	G	148617149	3	3	189	1	0	0	0	0	1	0	0	0	96	296	11	3	1065	3	ABLIM3	5	148617149	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	185387	148617149	32298111	1613	99470											
ARHGEF37	389337	broad.mit.edu	37	chr5	149003693	149003693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaagtgcagccacctcCcaccacacaagtaagcatcc	7	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:149003693C>T	uc003lra.1	+	10	1518	c.1454C>T	c.(1453-1455)CCC>CTC	p.P485L		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	485					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						CAGCCACCTCCCACCACACAA	0.557													T	149003693	C	T	149003693	3	4	189	1	0	0	0	0	1	0	0	0	906	623	22	4	1488	4	ARHGEF37	5	149003693	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	386544	149003693	31911567	1614	99471											
ARSI	340075	broad.mit.edu	37	chr5	149677489	149677489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgttgctttcgcttgagcAggggactgtggacaaagcct	13	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:149677489A>G	uc003lrv.2	-	2	1587	c.998T>C	c.(997-999)CTG>CCG	p.L333P		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	333						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTTGAGCAGGGGACTGTG	0.632													G	149677489	A	G	149677489	3	3	189	1	0	0	0	0	1	0	0	0	994	188	7	3	715	3	ARSI	5	149677489	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	673796	149677489	31237771	1615	99472											
TNIP1	10318	broad.mit.edu	37	chr5	150410293	150410293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgaggcccctcacggTcattttttggagactctaaa	8	12	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:150410293T>C	uc003ltf.2	-	18	2481	c.1892A>G	c.(1891-1893)GAC>GGC	p.D631G	TNIP1_uc011dcn.1_Missense_Mutation_p.D149G|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.D567G|TNIP1_uc010jhn.2_Missense_Mutation_p.T535A|TNIP1_uc011dco.1_3'UTR|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.D631G|TNIP1_uc003ltg.2_Missense_Mutation_p.D578G|TNIP1_uc003ltj.2_Missense_Mutation_p.D631G|TNIP1_uc010jho.1_Intron|TNIP1_uc010jhq.1_Intron|TNIP1_uc010jhp.1_Intron|TNIP1_uc010jhr.1_Intron|TNIP1_uc003ltk.2_Intron	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	631	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTCACGGTCATTTTTTGG	0.438													C	150410293	T	C	150410293	3	2	189	1	0	0	0	0	1	0	0	0	16311	1667	58	3	22	3	TNIP1	5	150410293	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	732804	150410293	30504967	1616	99473											
ANXA6	309	broad.mit.edu	37	chr5	150484828	150484828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggatttgtaaagtttgTcggcaaagaagagaggcttg	13	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:150484828T>C	uc003ltl.1	-	24	1969	c.1817A>G	c.(1816-1818)GAC>GGC	p.D606G	ANXA6_uc011dcp.1_Missense_Mutation_p.D574G|ANXA6_uc003ltm.1_Missense_Mutation_p.D600G|ANXA6_uc003ltn.1_Missense_Mutation_p.D393G|ANXA6_uc003lto.1_Missense_Mutation_p.D193G	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	606						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAAAGTTTGTCGGCAAAGAA	0.478													C	150484828	T	C	150484828	3	2	189	1	0	0	0	0	1	0	0	0	722	1667	58	3	216	3	ANXA6	5	150484828	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	74535	150484828	30430432	1617	99474											
FAT2	2196	broad.mit.edu	37	chr5	150900933	150900933	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccttggggtccagatgcaCtgtgttatggcagatttgac	12	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:150900933C>G	uc003lue.3	-	18	11234	c.11221G>C	c.(11221-11223)GTG>CTG	p.V3741L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V434L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3741	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGATGCACTGTGTTATGG	0.607													G	150900933	C	G	150900933	3	3	189	1	0	0	0	0	1	0	0	0	5690	565	20	5	1852	5	FAT2	5	150900933	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	416105	150900933	30014327	1618	99475											
FAT2	2196	broad.mit.edu	37	chr5	150905452	150905452	+	Frame_Shift_Del	DEL	G	G	-													ttggtgattcgaaacgagtaGggggggccattctctggaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:150905451_150905451AG>A	uc003lue.4	-	16	10397	c.10384_10384CT>T	c.(10384-10386)tacfs	p.Y3462fs	FAT2_uc003lud.4_Frame_Shift_Del_p.Y155fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3462	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P3461T(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)			CGAAACGAGTAGGGGGGGCCA	0.582													-	150905452	G	-	150905452	7	5	189	1	0	1	0	1	0	0	0	0	5690	987	35	0	2694	0	FAT2	5	150905452	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	4519	150905452	30009808	1619	99476											
SPARC	6678	broad.mit.edu	37	chr5	151052748	151052748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaaattctcctacttcCacctggacaggattagctcc	5	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:151052748C>T	uc003luh.2	-	3	174	c.150G>A	c.(148-150)GTG>GTA	p.V50V	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_5'UTR|SPARC_uc003lui.2_Silent_p.V50V	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	50	Asp/Glu-rich (acidic; binds calcium).				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CTCCTACTTCCACCTGGACAG	0.527													T	151052748	C	T	151052748	2	4	189	1	0	0	0	0	0	0	0	1	14994	581	21	4		4	SPARC	5	151052748	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	147296	151052748	29862512	1620	99477											
G3BP1	10146	broad.mit.edu	37	chr5	151170481	151170481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgatgtcacaaaactTcaccaactgccacaccaaga	6	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:151170481T>C	uc003lun.2	+	4	380	c.209T>C	c.(208-210)TTC>TCC	p.F70S	G3BP1_uc010jhy.1_Missense_Mutation_p.F70S|G3BP1_uc003lum.2_Missense_Mutation_p.F70S|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	70	NTF2.				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			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCACAAAACTTCACCAACTGC	0.378													C	151170481	T	C	151170481	3	2	189	1	0	0	0	0	1	0	0	0	6141	1783	62	3	219	3	G3BP1	5	151170481	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	117733	151170481	29744779	1621	99478											
FAM114A2	10827	broad.mit.edu	37	chr5	153381868	153381868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttcctgccatgcagaAccaatgcagctgttttgtgg	10	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:153381868A>G	uc003lvb.2	-	11	1787	c.1199T>C	c.(1198-1200)GTT>GCT	p.V400A	FAM114A2_uc003lvc.2_Missense_Mutation_p.V400A|FAM114A2_uc003lvd.2_Missense_Mutation_p.V400A|FAM114A2_uc003lve.2_Missense_Mutation_p.V216A|FAM114A2_uc011dda.1_Missense_Mutation_p.V330A	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	400							purine nucleotide binding				0						GCCATGCAGAACCAATGCAGC	0.443													G	153381868	A	G	153381868	3	3	189	1	0	0	0	0	1	0	0	0	5404	43	2	3	334	3	FAM114A2	5	153381868	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2211387	153381868	27533392	1622	99479											
GALNT10	55568	broad.mit.edu	37	chr5	153792536	153792536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagggctgcgtccgaggcCgtggggaggctgcctggaac	19	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:153792536C>T	uc003lvh.2	+	10	1606	c.1474C>T	c.(1474-1476)CGT>TGT	p.R492C	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.R333C|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.R163C	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	492	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	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)			CGTCCGAGGCCGTGGGGAGGC	0.627													T	153792536	C	T	153792536	3	4	189	1	0	0	0	0	1	0	0	0	6208	652	23	1	1512	1	GALNT10	5	153792536	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	410668	153792536	27122724	1623	99480											
LARP1	23367	broad.mit.edu	37	chr5	154173252	154173252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgcccaccggagcctagAcacatacctgccaatcgcgg	9	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:154173252A>G	uc003lvp.2	+	5	1266	c.837A>G	c.(835-837)AGA>AGG	p.R279R	LARP1_uc003lvo.2_Silent_p.R202R|LARP1_uc010jie.1_Silent_p.R74R	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	279							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGGAGCCTAGACACATACCTG	0.552													G	154173252	A	G	154173252	2	3	189	1	0	0	0	0	0	0	0	1	8628	272	10	3		3	LARP1	5	154173252	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	380716	154173252	26742008	1624	99481											
GEMIN5	25929	broad.mit.edu	37	chr5	154284949	154284949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttggtggctcctttTtcagtaaaatgactttgtta	7	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:154284949T>C	uc003lvx.3	-	17	2566	c.2483A>G	c.(2482-2484)AAA>AGA	p.K828R	GEMIN5_uc011ddk.1_Missense_Mutation_p.K827R	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	828					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGCTCCTTTTTCAGTAAAAT	0.353													C	154284949	T	C	154284949	3	2	189	1	0	0	0	0	1	0	0	0	6331	1841	64	3	2091	3	GEMIN5	5	154284949	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	111697	154284949	26630311	1625	99482											
KIF4B	285643	broad.mit.edu	37	chr5	154394631	154394631	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgaaaaattaagtcgTtgtctgagcaaggcagctgg	13	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:154394631T>C	uc010jih.1	+	1	1372	c.1212T>C	c.(1210-1212)CGT>CGC	p.R404R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	404	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATTAAGTCGTTGTCTGAGCA	0.453													C	154394631	T	C	154394631	2	2	189	1	0	0	0	0	0	0	0	1	8304	1712	60	3		3	KIF4B	5	154394631	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	109682	154394631	26520629	1626	99483											
KIF4B	285643	broad.mit.edu	37	chr5	154396976	154396976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagaagactgctccagCtccctccccttttgacctcc	6	17	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:154396976C>T	uc010jih.1	+	1	3717	c.3557C>T	c.(3556-3558)GCT>GTT	p.A1186V		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1186	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCTCCAGCTCCCTCCCCT	0.493													T	154396976	C	T	154396976	3	4	189	1	0	0	0	0	1	0	0	0	8304	797	28	2	3559	2	KIF4B	5	154396976	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2345	154396976	26518284	1627	99484											
C5orf40	408263	broad.mit.edu	37	chr5	156769912	156769912	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagcgggtgggtcaccaccCcccctctgtaaggcacccgc	11	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:156769912C>A	uc003lwu.2	-	2	821	c.633G>T	c.(631-633)GGG>GGT	p.G211G	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	211						integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTCACCACCCCCCCTCTGTA	0.587											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	156769912	C	A	156769912	2	1	189	1	0	0	0	0	0	0	0	1	2299	610	22	5		5	C5orf40	5	156769912	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2372936	156769912	24145348	1628	99485											
SOX30	11063	broad.mit.edu	37	chr5	157053373	157053373	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatccctgagcactttttctTcttcctcctcatcactgtcg	4	15	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:157053373T>A	uc003lxb.1	-	5	2579	c.2237A>T	c.(2236-2238)GAA>GTA	p.E746V	SOX30_uc003lxc.1_3'UTR|SOX30_uc011dds.1_Missense_Mutation_p.E441V	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	746					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			CACTTTTTCTTCTTCCTCCTC	0.378													A	157053373	T	A	157053373	3	1	189	1	0	0	0	0	1	0	0	0	14952	1783	62	5	28	5	SOX30	5	157053373	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	283461	157053373	23861887	1629	99486											
EBF1	1879	broad.mit.edu	37	chr5	158135143	158135143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcagttggaggggaGgcttgtggaggaggccatgg	21	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:158135143G>T	uc010jip.2	-	15	1890	c.1588C>A	c.(1588-1590)CTC>ATC	p.L530I	EBF1_uc011ddw.1_Missense_Mutation_p.L398I|EBF1_uc011ddx.1_Missense_Mutation_p.L531I|EBF1_uc003lxl.3_Missense_Mutation_p.L499I	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	530	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	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)			TTGGAGGGGAGGCTTGTGGAG	0.557			T	HMGA2	lipoma								T	158135143	G	T	158135143	3	4	189	1	0	0	0	0	1	0	0	0	4880	1000	35	5	195	5	EBF1	5	158135143	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1081770	158135143	22780117	1630	99487											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						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)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	189	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	460923	158596066	22319194	1631	99488											
FABP6	2172	broad.mit.edu	37	chr5	159659203	159659203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcccagcactactccGggggccacaccatgaccaac	9	17	0	1	rs140576066		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:159659203G>A	uc003lya.1	+	2	294	c.166G>A	c.(166-168)GGG>AGG	p.G56R	FABP6_uc003lxx.1_Missense_Mutation_p.G105R|FABP6_uc003lxz.1_Missense_Mutation_p.G105R	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	56					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	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)			GCACTACTCCGGGGGCCACAC	0.562													A	159659203	G	A	159659203	3	1	189	1	0	0	0	0	1	0	0	0	5361	1116	39	1	327	1	FABP6	5	159659203	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1063137	159659203	21256057	1632	99489											
SLU7	10569	broad.mit.edu	37	chr5	159835377	159835377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagattccggacagtaaTtcgtctcttggagtcaaaat	9	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:159835377T>C	uc003lyg.2	-	8	933	c.778A>G	c.(778-780)ATT>GTT	p.I260V		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	260					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			ovary(1)	1	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)			CGGACAGTAATTCGTCTCTTG	0.348													C	159835377	T	C	159835377	3	2	189	1	0	0	0	0	1	0	0	0	14755	1493	52	3	1018	3	SLU7	5	159835377	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	176174	159835377	21079883	1633	99490											
GABRB2	2561	broad.mit.edu	37	chr5	160757965	160757965	+	Frame_Shift_Del	DEL	C	C	-													gctttcttttggcgttggggCcccctcccaaagaagatgta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:160757964_160757964GC>G	uc003lys.1	-	8	1221	c.1003_1003GC>C	c.(1003-1005)cccfs	p.P335fs	GABRB2_uc011deh.1_Frame_Shift_Del_p.P174fs|GABRB2_uc003lyr.1_Frame_Shift_Del_p.P335fs|GABRB2_uc003lyt.1_Frame_Shift_Del_p.P335fs|GABRB2_uc021yhg.1_Frame_Shift_Del_p.P272fs	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	335					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel 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)	TGGCGTTGGGGCCCCCTCCCA	0.507													-	160757965	C	-	160757965	7	5	189	1	0	1	0	1	0	0	0	0	6167	726	26	0	548	0	GABRB2	5	160757965	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	922588	160757965	20157295	1634	99491											
GABRA6	2559	broad.mit.edu	37	chr5	161113279	161113279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagttgaaggcaacttcTactcagaaaacgtcagtcgg	10	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:161113279T>C	uc003lyu.2	+	2	420	c.82T>C	c.(82-84)TAC>CAC	p.Y28H		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	28	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	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)	AGGCAACTTCTACTCAGAAAA	0.483										TCGA Ovarian(5;0.080)			C	161113279	T	C	161113279	3	2	189	1	0	0	0	0	1	0	0	0	6165	1522	53	3	88	3	GABRA6	5	161113279	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	355314	161113279	19801981	1635	99492											
GABRA1	2554	broad.mit.edu	37	chr5	161318037	161318037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaacagagagtctgtAccagcaagaactgtctttgg	11	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:161318037A>G	uc010jiw.2	+	9	1305	c.837A>G	c.(835-837)GTA>GTG	p.V279V	GABRA1_uc010jix.2_Silent_p.V279V|GABRA1_uc010jiy.2_Silent_p.V279V|GABRA1_uc003lyx.3_Silent_p.V279V|GABRA1_uc010jiz.2_Silent_p.V279V|GABRA1_uc010jja.2_Silent_p.V279V|GABRA1_uc010jjb.2_Silent_p.V279V	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	279	Helical; (Probable).				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			ovary(2)|pancreas(1)	3	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)	GAGAGTCTGTACCAGCAAGAA	0.408													G	161318037	A	G	161318037	2	3	189	1	0	0	0	0	0	0	0	1	6160	378	14	3		3	GABRA1	5	161318037	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	204758	161318037	19597223	1636	99493											
NUDCD2	134492	broad.mit.edu	37	chr5	162886992	162886992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacctcctccaaggtctggTaccactggccccacggggtc	10	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:162886992T>C	uc003lze.2	-	1	152	c.65A>G	c.(64-66)TAC>TGC	p.Y22C	HMMR_uc003lzh.2_5'Flank|HMMR_uc003lzf.2_5'Flank|HMMR_uc003lzg.2_5'Flank|HMMR_uc011dem.1_5'Flank	NM_145266	NP_660309	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	22	CS.					intracellular					0	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		CAAGGTCTGGTACCACTGGCC	0.687													C	162886992	T	C	162886992	3	2	189	1	0	0	0	0	1	0	0	0	10723	1638	57	3	424	3	NUDCD2	5	162886992	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1568955	162886992	18028268	1637	99494											
ODZ2	57451	broad.mit.edu	37	chr5	167645692	167645692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatatgttttcaacgctgAtggcatccaccaatacactg	7	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:167645692A>G	uc010jjd.2	+	23	4769	c.4769A>G	c.(4768-4770)GAT>GGT	p.D1590G	ODZ2_uc003lzr.3_Missense_Mutation_p.D1360G|ODZ2_uc003lzt.3_Missense_Mutation_p.D963G|ODZ2_uc010jje.2_Missense_Mutation_p.D854G	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTCAACGCTGATGGCATCCAC	0.458													G	167645692	A	G	167645692	3	3	189	1	0	0	0	0	1	0	0	0	10835	333	12	3	4859	3	ODZ2	5	167645692	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4758700	167645692	13269568	1638	99495											
WWC1	23286	broad.mit.edu	37	chr5	167850759	167850759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccctcaggctgcatcaCcaccatccacgaggatgagg	11	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:167850759C>T	uc003lzu.2	+	11	1589	c.1496C>T	c.(1495-1497)ACC>ATC	p.T499I	WWC1_uc003lzv.2_Missense_Mutation_p.T499I|WWC1_uc011den.1_Missense_Mutation_p.T499I|WWC1_uc003lzw.2_Missense_Mutation_p.T298I	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	499					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			ovary(2)|skin(2)|breast(1)	5	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)		GGCTGCATCACCACCATCCAC	0.632													T	167850759	C	T	167850759	3	4	189	1	0	0	0	0	1	0	0	0	17408	507	18	4	1538	4	WWC1	5	167850759	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	205067	167850759	13064501	1639	99496											
SLIT3	6586	broad.mit.edu	37	chr5	168098380	168098380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgggagggccttgaagTcctgcagctcgttgttgatg	17	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:168098380T>C	uc003mab.2	-	34	4370	c.3950A>G	c.(3949-3951)GAC>GGC	p.D1317G	SLIT3_uc010jjg.2_Missense_Mutation_p.D1324G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1317	Laminin G-like.				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			ovary(3)|skin(1)	4	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)			GGCCTTGAAGTCCTGCAGCTC	0.657													C	168098380	T	C	168098380	3	2	189	1	0	0	0	0	1	0	0	0	14741	1667	58	3	633	3	SLIT3	5	168098380	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	247621	168098380	12816880	1640	99497											
SLIT3	6586	broad.mit.edu	37	chr5	168176497	168176497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacaggtgaagtcctggAtggccacatcctggatggga	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:168176497A>C	uc003mab.2	-	19	2537	c.2117T>G	c.(2116-2118)ATC>AGC	p.I706S	SLIT3_uc010jjg.2_Missense_Mutation_p.I706S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	706	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	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)			GAAGTCCTGGATGGCCACATC	0.552													C	168176497	A	C	168176497	3	2	189	1	0	0	0	0	1	0	0	0	14741	333	12	5	2526	5	SLIT3	5	168176497	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	78117	168176497	12738763	1641	99498											
DOCK2	1794	broad.mit.edu	37	chr5	169145773	169145773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtgttcaagttcattgttCggtcgaggacattattttca	9	6	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:169145773C>T	uc003maf.2	+	22	2325	c.2245C>T	c.(2245-2247)CGG>TGG	p.R749W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R241W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	749					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			ovary(5)|pancreas(2)	7	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)			GTTCATTGTTCGGTCGAGGAC	0.418													T	169145773	C	T	169145773	3	4	189	1	0	0	0	0	1	0	0	0	4687	875	31	1	2331	1	DOCK2	5	169145773	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	969276	169145773	11769487	1642	99499											
DOCK2	1794	broad.mit.edu	37	chr5	169454930	169454930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgaggcgacgagcagTacatgcagctcctggagtca	16	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:169454930T>C	uc003maf.2	+	34	3525	c.3445T>C	c.(3445-3447)TAC>CAC	p.Y1149H	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Y641H	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1149	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	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)			CGACGAGCAGTACATGCAGCT	0.522													C	169454930	T	C	169454930	3	2	189	1	0	0	0	0	1	0	0	0	4687	1638	57	3	3579	3	DOCK2	5	169454930	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	309157	169454930	11460330	1643	99500											
FBXW11	23291	broad.mit.edu	37	chr5	171318497	171318497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaattatctcgtaggccacTgataattttttcatcatcgt	6	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:171318497T>C	uc003mbm.1	-	6	1134	c.763A>G	c.(763-765)AGT>GGT	p.S255G	FBXW11_uc011dey.1_Missense_Mutation_p.S223G|FBXW11_uc003mbl.1_Missense_Mutation_p.S242G|FBXW11_uc003mbn.1_Missense_Mutation_p.S221G	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	255	WD 1.				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	p.N260_I262(1)		ovary(1)|breast(1)	2	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)			CGTAGGCCACTGATAATTTTT	0.368													C	171318497	T	C	171318497	3	2	189	1	0	0	0	0	1	0	0	0	5764	1580	55	3	893	3	FBXW11	5	171318497	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1863567	171318497	9596763	1644	99501											
UBTD2	92181	broad.mit.edu	37	chr5	171638962	171638962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagaaaaaaaccaccGctgactacctggttccactc	6	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:171638962G>A	uc003mbp.1	-	3	703	c.577C>T	c.(577-579)CGG>TGG	p.R193W		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	193	Ubiquitin-like.					cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAAAACCACCGCTGACTACCT	0.488													A	171638962	G	A	171638962	3	1	189	1	0	0	0	0	1	0	0	0	16905	1086	38	1	131	1	UBTD2	5	171638962	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	320465	171638962	9276298	1645	99502											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766816	171766816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagaaagttgggtctcgaCgcgttgctcgtcttcttgta	12	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:171766816C>T	uc003mbr.2	-	13	1464	c.1293G>A	c.(1291-1293)GCG>GCA	p.A431A		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	431					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			ovary(3)|skin(1)	4	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)			TGGGTCTCGACGCGTTGCTCG	0.587													T	171766816	C	T	171766816	2	4	189	1	0	0	0	0	0	0	0	1	14257	523	19	1		1	SH3PXD2B	5	171766816	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	127854	171766816	9148444	1646	99503											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171774309	171774309	+	Frame_Shift_Del	DEL	G	G	-													tggtcatgtcccggcgaggaGggggtctctgcctcatcttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:171774308_171774308AG>A	uc003mbr.3	-	10	1212	c.1041_1041CT>T	c.(1039-1041)cctfs	p.P347fs		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	347					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate 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)			CCCGGCGAGGAGGGGGTCTCT	0.562													-	171774309	G	-	171774309	7	5	189	1	0	1	0	1	0	0	0	0	14257	1000	35	0	1707	0	SH3PXD2B	5	171774309	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	7493	171774309	9140951	1647	99504											
DUSP1	1843	broad.mit.edu	37	chr5	172195808	172195808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggctctgaaggtagctcAgcgcactgttcgtggagtgg	17	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:172195808A>G	uc003mbv.1	-	4	1309	c.1061T>C	c.(1060-1062)CTG>CCG	p.L354P	DUSP1_uc011dez.1_Missense_Mutation_p.L212P|DUSP1_uc003mbu.1_Missense_Mutation_p.L242P	NM_004417	NP_004408	P28562	DUS1_HUMAN	dual specificity phosphatase 1	354	Tyrosine-protein phosphatase.				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			breast(2)|ovary(1)	3	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)		AAGGTAGCTCAGCGCACTGTT	0.617													G	172195808	A	G	172195808	3	3	189	1	0	0	0	0	1	0	0	0	4809	188	7	3	46	3	DUSP1	5	172195808	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	421499	172195808	8719452	1648	99505											
RPL26L1	51121	broad.mit.edu	37	chr5	172386967	172386967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcgcaggaagatcatgTcatccccgctctccaaggag	11	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:172386967T>C	uc003mcc.2	+	2	133	c.91T>C	c.(91-93)TCA>CCA	p.S31P	LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	31					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGATCATGTCATCCCCGCT	0.577													C	172386967	T	C	172386967	3	2	189	1	0	0	0	0	1	0	0	0	13574	1667	58	3	93	3	RPL26L1	5	172386967	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	191159	172386967	8528293	1649	99506											
BNIP1	662	broad.mit.edu	37	chr5	172590823	172590823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttatcacaaaatacaatCgccgggagctgacggacaag	10	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:172590823C>T	uc003mcj.3	+	6	690	c.586C>T	c.(586-588)CGC>TGC	p.R196C	BNIP1_uc003mci.3_Missense_Mutation_p.R239C|BNIP1_uc003mck.3_Missense_Mutation_p.R205C|BNIP1_uc003mcl.3_Missense_Mutation_p.R162C	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	196	Cytoplasmic (Potential).				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			ovary(1)	1	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)			AAAATACAATCGCCGGGAGCT	0.478													T	172590823	C	T	172590823	3	4	189	1	0	0	0	0	1	0	0	0	1476	884	31	1	741	1	BNIP1	5	172590823	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	203856	172590823	8324437	1650	99507											
C5orf25	375484	broad.mit.edu	37	chr5	175772238	175772238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttaataatcaaaaggatTaagcccaaaccccagcaagg	7	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:175772238T>C	uc003mds.3	+	12	2816	c.2409T>C	c.(2407-2409)ATT>ATC	p.I803I	C5orf25_uc003mdt.3_Silent_p.I388I|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Silent_p.I264I			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	803											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TCAAAAGGATTAAGCCCAAAC	0.488													C	175772238	T	C	175772238	2	2	189	1	0	0	0	0	0	0	0	1	2288	1742	61	3		3	C5orf25	5	175772238	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3181415	175772238	5143022	1651	99508											
CDHR2	54825	broad.mit.edu	37	chr5	176004743	176004743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttccccagagcttgtacGtcctcacggtgccagagcac	10	15	1	2	rs115283964	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176004743G>A	uc003mem.1	+	14	1522	c.1456G>A	c.(1456-1458)GTC>ATC	p.V486I	CDHR2_uc003men.1_Missense_Mutation_p.V486I	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	486	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GAGCTTGTACGTCCTCACGGT	0.607													A	176004743	G	A	176004743	3	1	189	1	0	0	0	0	1	0	0	0	3119	1145	40	1	1506	1	CDHR2	5	176004743	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	232505	176004743	4910517	1652	99509											
CDHR2	54825	broad.mit.edu	37	chr5	176005416	176005416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggacggtgacggtgaggaAcggtgagctgctggaccggg	21	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176005416A>G	uc003mem.1	+	16	1691	c.1625A>G	c.(1624-1626)AAC>AGC	p.N542S	CDHR2_uc003men.1_Missense_Mutation_p.N542S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	542	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						ACGGTGAGGAACGGTGAGCTG	0.522													G	176005416	A	G	176005416	3	3	189	1	0	0	0	0	1	0	0	0	3119	43	2	3	1683	3	CDHR2	5	176005416	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	673	176005416	4909844	1653	99510											
CDHR2	54825	broad.mit.edu	37	chr5	176011443	176011443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgaaggcctgggacGcggaccagacggaagccaac	17	11	0	2	rs116786975	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176011443G>A	uc003mem.1	+	19	2227	c.2161G>A	c.(2161-2163)GCG>ACG	p.A721T	CDHR2_uc003men.1_Missense_Mutation_p.A721T	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	721	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GGCCTGGGACGCGGACCAGAC	0.642													A	176011443	G	A	176011443	3	1	189	1	0	0	0	0	1	0	0	0	3119	1087	38	1	2231	1	CDHR2	5	176011443	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6027	176011443	4903817	1654	99511											
CDHR2	54825	broad.mit.edu	37	chr5	176016062	176016062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgattcagggaacaatggcGtcatcctgttctccatcctc	8	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176016062G>A	uc003mem.1	+	22	2953	c.2887G>A	c.(2887-2889)GTC>ATC	p.V963I	CDHR2_uc003men.1_Missense_Mutation_p.V963I	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	963	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GAACAATGGCGTCATCCTGTT	0.587													A	176016062	G	A	176016062	3	1	189	1	0	0	0	0	1	0	0	0	3119	1145	40	1	2969	1	CDHR2	5	176016062	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4619	176016062	4899198	1655	99512											
CDHR2	54825	broad.mit.edu	37	chr5	176017111	176017111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaccaggactacagtatAcattgtggacattcaggaca	10	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176017111A>G	uc003mem.1	+	25	3305	c.3239A>G	c.(3238-3240)TAC>TGC	p.Y1080C	CDHR2_uc003men.1_Missense_Mutation_p.Y1080C	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1080	Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						ACTACAGTATACATTGTGGAC	0.607													G	176017111	A	G	176017111	3	3	189	1	0	0	0	0	1	0	0	0	3119	391	14	3	3333	3	CDHR2	5	176017111	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1049	176017111	4898149	1656	99513											
UNC5A	90249	broad.mit.edu	37	chr5	176304606	176304606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccccctggcgtcctgctcAcccggccagtcatcctggct	10	19	2	0	rs143892682		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176304606A>G	uc003mey.2	+	10	1729	c.1537A>G	c.(1537-1539)ACC>GCC	p.T513A		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	513	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	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)			CGTCCTGCTCACCCGGCCAGT	0.637													G	176304606	A	G	176304606	3	3	189	1	0	0	0	0	1	0	0	0	16988	159	6	3	1575	3	UNC5A	5	176304606	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	287495	176304606	4610654	1657	99514											
F12	2161	broad.mit.edu	37	chr5	176830304	176830304	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagagcgtggtctcggaGggtcgcgcggcgccgcttgg	20	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176830304G>T	uc003mgo.3	-	12	1531	c.1482C>A	c.(1480-1482)CCC>CCA	p.P494P	PFN3_uc003mgl.2_5'Flank|F12_uc011dfy.1_Missense_Mutation_p.P25H|F12_uc003mgn.3_Missense_Mutation_p.P25H|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	494	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	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)			TGGTCTCGGAGGGTCGCGCGG	0.672									Hereditary_Angioedema				T	176830304	G	T	176830304	2	4	189	1	0	0	0	0	0	0	0	1	5339	987	35	5		5	F12	5	176830304	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	525698	176830304	4084956	1658	99515											
DDX41	51428	broad.mit.edu	37	chr5	176939332	176939332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagactcaccacacgcttTgttgatgaaggtagtggcga	11	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176939332T>C	uc003mho.2	-	15	1633	c.1612A>G	c.(1612-1614)AAA>GAA	p.K538E	DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.K318E|DDX41_uc003mhn.2_Missense_Mutation_p.K407E|DDX41_uc003mhp.2_Missense_Mutation_p.K407E	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	538	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			CCACACGCTTTGTTGATGAAG	0.622													C	176939332	T	C	176939332	3	2	189	1	0	0	0	0	1	0	0	0	4361	1821	63	3	268	3	DDX41	5	176939332	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	109028	176939332	3975928	1659	99516											
FAM193B	54540	broad.mit.edu	37	chr5	176958383	176958383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcagctcatccacatctCggtggtccacggcgggctcc	11	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:176958383C>T	uc003mhs.3	-	7	2665	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	FAM193B_uc003mht.2_Missense_Mutation_p.R18Q|FAM193B_uc003mhu.2_Intron|FAM193B_uc003mhv.2_Missense_Mutation_p.R18Q|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0						ATCCACATCTCGGTGGTCCAC	0.657													T	176958383	C	T	176958383	3	4	189	1	0	0	0	0	1	0	0	0	5525	884	31	1	1309	1	FAM193B	5	176958383	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	19051	176958383	3956877	1660	99517											
N4BP3	23138	broad.mit.edu	37	chr5	177548744	177548744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggggaggcaggaggcagCgaggccagagacagtgctga	19	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:177548744C>T	uc003mik.1	+	5	1624	c.1377C>T	c.(1375-1377)AGC>AGT	p.S459S	N4BP3_uc003mil.1_Silent_p.S128S	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	459	Potential.					cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|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)			CAGGAGGCAGCGAGGCCAGAG	0.682													T	177548744	C	T	177548744	2	4	189	1	0	0	0	0	0	0	0	1	10113	767	27	1		1	N4BP3	5	177548744	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	590361	177548744	3366516	1661	99518											
AGXT2L2	85007	broad.mit.edu	37	chr5	177651540	177651540	+	Frame_Shift_Del	DEL	C	C	-													ggtggtcctcccggtaggggCcccggtaggtgtctgggaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:177651539_177651539GC>G	uc003miz.3	-	5	780	c.528_528GC>C	c.(526-528)ggcfs	p.G176fs	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Frame_Shift_Del_p.G135fs|AGXT2L2_uc003mjb.3_Intron|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Frame_Shift_Del_p.G34fs	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	176						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|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)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCCGGTAGGGGCCCCGGTAGG	0.617													-	177651540	C	-	177651540	7	5	189	1	0	1	0	1	0	0	0	0	407	739	26	0	853	0	AGXT2L2	5	177651540	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	102796	177651540	3263720	1662	99519											
CLK4	57396	broad.mit.edu	37	chr5	178040801	178040801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagctgcttcacggtaacGgcctacattttttacgattt	8	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:178040801G>A	uc003mjf.1	-	6	694	c.586C>T	c.(586-588)CGT>TGT	p.R196C	CLK4_uc003mjg.1_Missense_Mutation_p.R160C|CLK4_uc010jku.1_Missense_Mutation_p.R16C|CLK4_uc003mjh.1_Missense_Mutation_p.R16C|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.R196C|CLK4_uc011dgh.1_Missense_Mutation_p.R16C	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	196	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	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)		TCACGGTAACGGCCTACATTT	0.368													A	178040801	G	A	178040801	3	1	189	1	0	0	0	0	1	0	0	0	3539	1116	39	1	891	1	CLK4	5	178040801	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	389261	178040801	2874459	1663	99520											
ZNF354A	6940	broad.mit.edu	37	chr5	178140425	178140425	+	Frame_Shift_Del	DEL	T	T	-													gcttctttctatagtggggaTttttttgtgggtggctgaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:178140424_178140424AT>A	uc003mjj.3	-	4	653	c.455_455AT>T	c.(454-456)atcfs	p.I152fs		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	152					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		TATAGTGGGGATTTTTTTGTG	0.358													-	178140425	T	-	178140425	7	5	189	1	0	1	0	1	0	0	0	0	17861	1493	52	0	1367	0	ZNF354A	5	178140425	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	99624	178140425	2774835	1664	99521											
GRM6	2916	broad.mit.edu	37	chr5	178413444	178413444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccgcacgaaggtggccAccaccgtggtagtggccacg	14	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:178413444A>G	uc003mjr.2	-	8	1990	c.1811T>C	c.(1810-1812)GTG>GCG	p.V604A	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.V187A|GRM6_uc003mjs.1_Missense_Mutation_p.V224A	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	604	Helical; Name=1; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		GAAGGTGGCCACCACCGTGGT	0.687													G	178413444	A	G	178413444	3	3	189	1	0	0	0	0	1	0	0	0	6801	159	6	3	834	3	GRM6	5	178413444	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	273019	178413444	2501816	1665	99522											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552049	178552049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcggctctcgggccgggcGtcattgcagtgcttggcgtg	18	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:178552049G>A	uc003mjw.2	-	19	2883	c.2883C>T	c.(2881-2883)GAC>GAT	p.D961D		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	961	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		CGGGCCGGGCGTCATTGCAGT	0.701													A	178552049	G	A	178552049	2	1	189	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178552049	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	138605	178552049	2363211	1666	99523											
ADAMTS2	9509	broad.mit.edu	37	chr5	178699958	178699958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggggacgtgggtggCcggcgatacaccacatgcac	17	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:178699958C>T	uc003mjw.2	-	3	642	c.642G>A	c.(640-642)CGG>CGA	p.R214R	ADAMTS2_uc011dgm.1_Silent_p.R214R	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	214					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		ACGTGGGTGGCCGGCGATACA	0.662													T	178699958	C	T	178699958	2	4	189	1	0	0	0	0	0	0	0	1	265	726	26	2		2	ADAMTS2	5	178699958	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	147909	178699958	2215302	1667	99524											
RUFY1	80230	broad.mit.edu	37	chr5	179021905	179021905	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcagaagaatgaagccatCacatcctttgaaggaaaaac	8	9	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:179021905C>T	uc003mka.1	+	12	1452	c.1452C>T	c.(1450-1452)ATC>ATT	p.I484I	RUFY1_uc003mkb.1_Silent_p.I376I|RUFY1_uc003mkc.1_Silent_p.I376I|RUFY1_uc003mkd.1_Silent_p.I86I	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	484	Potential.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	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)			ATGAAGCCATCACATCCTTTG	0.463										HNSCC(44;0.11)			T	179021905	C	T	179021905	2	4	189	1	0	0	0	0	0	0	0	1	13738	816	29	4		4	RUFY1	5	179021905	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	321947	179021905	1893355	1668	99525											
HNRNPH1	3187	broad.mit.edu	37	chr5	179050041	179050041	+	Frame_Shift_Del	DEL	A	A	-													tcctagttctaactcaccagAaaaaaacctctgcacttcat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:179050040_179050040GA>G	uc021yjd.1	-	0	126	c.95_95TC>C	c.(94-96)tctfs	p.S32fs	HNRNPH1_uc003mkf.4_Frame_Shift_Del_p.S32fs|HNRNPH1_uc003mkg.4_5'UTR|HNRNPH1_uc003mke.4_Frame_Shift_Del_p.S32fs|HNRNPH1_uc003mkh.4_Frame_Shift_Del_p.S32fs|HNRNPH1_uc021yje.1_5'Flank	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	32	RRM 1.				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						TAACTCACCAGAAAAAAACCT	0.687													-	179050041	A	-	179050041	7	5	189	1	0	1	0	1	0	0	0	0	7266	246	9	0	1303	0	HNRNPH1	5	179050041	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	28136	179050041	1865219	1669	99526											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290695	179290695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtgtcgtctgcaaggTcttcacattgcagggagccc	12	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:179290695T>C	uc003mlh.2	-	22	3543	c.3506A>G	c.(3505-3507)GAC>GGC	p.D1169G	TBC1D9B_uc003mli.2_Missense_Mutation_p.D1152G|TBC1D9B_uc003mlj.2_Missense_Mutation_p.D1151G|TBC1D9B_uc003mlf.2_Missense_Mutation_p.D243G|TBC1D9B_uc003mlg.2_Missense_Mutation_p.D328G|TBC1D9B_uc011dgv.1_Missense_Mutation_p.D328G	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1169						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)			GTCTGCAAGGTCTTCACATTG	0.632													C	179290695	T	C	179290695	3	2	189	1	0	0	0	0	1	0	0	0	15625	1667	58	3	250	3	TBC1D9B	5	179290695	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	240654	179290695	1624565	1670	99527											
TBC1D9B	23061	broad.mit.edu	37	chr5	179320379	179320379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagaagagctcctggtcGcgggtgtccacacggatgct	15	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:179320379G>A	uc003mlh.2	-	5	703	c.666C>T	c.(664-666)CGC>CGT	p.R222R	TBC1D9B_uc003mli.2_Silent_p.R222R|TBC1D9B_uc003mlj.2_Silent_p.R222R	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	222						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)			GCTCCTGGTCGCGGGTGTCCA	0.612													A	179320379	G	A	179320379	2	1	189	1	0	0	0	0	0	0	0	1	15625	1074	38	1		1	TBC1D9B	5	179320379	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	29684	179320379	1594881	1671	99528											
MAPK9	5601	broad.mit.edu	37	chr5	179663507	179663507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactgagaaggagtggcGttgctacttactgctgcatc	13	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:179663507G>A	uc003mls.3	-	12	1423	c.1152C>T	c.(1150-1152)AAC>AAT	p.N384N	MAPK9_uc003mlt.3_3'UTR|MAPK9_uc010jlc.2_Silent_p.N384N|MAPK9_uc003mlv.3_3'UTR	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	384					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|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	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)			AAGGAGTGGCGTTGCTACTTA	0.488													A	179663507	G	A	179663507	2	1	189	1	0	0	0	0	0	0	0	1	9287	1136	40	1		1	MAPK9	5	179663507	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	343128	179663507	1251753	1672	99529											
CNOT6	57472	broad.mit.edu	37	chr5	179994949	179994949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagtcatgacaaaagatAacattggggttgcagtactg	11	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:179994949A>G	uc003mlx.2	+	9	1322	c.973A>G	c.(973-975)AAC>GAC	p.N325D	CNOT6_uc010jld.2_Missense_Mutation_p.N325D|CNOT6_uc010jle.2_Missense_Mutation_p.N320D	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	325					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				0	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)		GACAAAAGATAACATTGGGGT	0.428													G	179994949	A	G	179994949	3	3	189	1	0	0	0	0	1	0	0	0	3622	362	13	3	1003	3	CNOT6	5	179994949	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	331442	179994949	920311	1673	99530											
BTNL8	79908	broad.mit.edu	37	chr5	180374580	180374580	+	Frame_Shift_Del	DEL	T	T	-													gaatactctgctgtggcctaTtttttggcattgttggactg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:180374579_180374579AT>A	uc003mmp.3	+	3	975	c.741_741AT>A	c.(739-741)ctafs	p.L247fs	BTNL8_uc003mmq.3_Frame_Shift_Del_p.L247fs|BTNL8_uc010jll.3_Frame_Shift_Del_p.L247fs|BTNL8_uc011dhg.2_Frame_Shift_Del_p.L122fs|BTNL8_uc010jlm.3_Frame_Shift_Del_p.L131fs|BTNL8_uc011dhh.2_Frame_Shift_Del_p.L63fs	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	247						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)			GCTGTGGCCTATTTTTTGGCA	0.443													-	180374580	T	-	180374580	7	5	189	1	0	1	0	1	0	0	0	0	1567	1493	52	0	782	0	BTNL8	5	180374580	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	379631	180374580	540680	1674	99531											
BTNL9	153579	broad.mit.edu	37	chr5	180477189	180477189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaagcctaaggttcagTggagagaccaccagggacag	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr5:180477189T>C	uc003mmt.2	+	4	787	c.556T>C	c.(556-558)TGG>CGG	p.W186R	BTNL9_uc011dhi.1_Missense_Mutation_p.W117R	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	186	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-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)			TAAGGTTCAGTGGAGAGACCA	0.582													C	180477189	T	C	180477189	3	2	189	1	0	0	0	0	1	0	0	0	1568	1696	59	3	566	3	BTNL9	5	180477189	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	102609	180477189	438071	1675	99532											
TUBB2A	7280	broad.mit.edu	37	chr6	3154142	3154142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgaactccccttgttcGtcggccgtggcgtcctggta	11	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:3154142G>A	uc003mvc.2	-	4	1379	c.1293C>T	c.(1291-1293)GAC>GAT	p.D431D	TUBB2A_uc003mvb.2_Silent_p.D424D|TUBB2A_uc003mvd.2_Silent_p.D394D	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	431					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCCTTGTTCGTCGGCCGTGG	0.567													A	3154142	G	A	3154142	2	1	189	1	0	0	0	0	0	0	0	1	16751	1136	40	1		1	TUBB2A	6	3154142	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08		3154142	167960925	1676	99533											
CDYL	9425	broad.mit.edu	37	chr6	4943960	4943961	+	Frame_Shift_Del	DEL	TA	TA	-													ccagatggctgttctaccgtTatgtttcccaagataatggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:4943959_4943960TTA>T	uc003mwi.3	+	6	1594_1595	c.1463_1464TTA>T	c.(1462-1464)gttfs	p.V488fs	CDYL_uc003mwj.3_Frame_Shift_Del_p.V434fs|CDYL_uc003mwk.3_Frame_Shift_Del_p.V199fs|CDYL_uc011dhx.2_Frame_Shift_Del_p.V302fs|CDYL_uc011dhy.2_Frame_Shift_Del_p.V302fs	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	488					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)		TGTTCTACCGTTATGTTTCCCA	0.391													-	4943961	TA	-	4943960	7	5	189	1	0	1	0	1	0	0	0	0	3185	1741	61	0	1320	0	CDYL	6	4943960	Frame_Shift_Del	DEL	TA	TCGA-CG-5721-01A-11D-1600-08	1789818	4943960	166171107	1677	99534											
FARS2	10667	broad.mit.edu	37	chr6	5369143	5369143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccgttgttctcggtctacGacaacctttctccagtggtc	8	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:5369143G>A	uc010jnv.1	+	2	676	c.340G>A	c.(340-342)GAC>AAC	p.D114N	FARS2_uc003mwr.2_Missense_Mutation_p.D114N|FARS2_uc003mws.1_Missense_Mutation_p.D114N	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	114					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTCGGTCTACGACAACCTTTC	0.552													A	5369143	G	A	5369143	3	1	189	1	0	0	0	0	1	0	0	0	5678	1058	37	1	342	1	FARS2	6	5369143	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	425183	5369143	165745924	1678	99535											
F13A1	2162	broad.mit.edu	37	chr6	6224953	6224953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaaaaacccagcattgGccataccggactggattctc	8	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:6224953G>A	uc003mwv.2	-	7	1062	c.939C>T	c.(937-939)GGC>GGT	p.G313G	F13A1_uc011dib.1_Silent_p.G250G	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	313					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCAGCATTGGCCATACCGGA	0.428													A	6224953	G	A	6224953	2	1	189	1	0	0	0	0	0	0	0	1	5340	1190	42	2		2	F13A1	6	6224953	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	855810	6224953	164890114	1679	99536											
DSP	1832	broad.mit.edu	37	chr6	7580913	7580913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacaaagaaacaaatgaccGgaaatgcctggaagatgaaa	10	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:7580913G>A	uc003mxp.1	+	23	4769	c.4490G>A	c.(4489-4491)CGG>CAG	p.R1497Q	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1497	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAAATGACCGGAAATGCCTG	0.403													A	7580913	G	A	7580913	3	1	189	1	0	0	0	0	1	0	0	0	4781	1116	39	1	4580	1	DSP	6	7580913	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1355960	7580913	163534154	1680	99537											
TXNDC5	81567	broad.mit.edu	37	chr6	7904918	7904918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtatttgtctcccaggTcattccaagtcggctgcagc	10	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:7904918T>C	uc003mxv.2	-	2	334	c.302A>G	c.(301-303)GAC>GGC	p.D101G	TXNDC5_uc003mxw.2_Missense_Mutation_p.D58G|TXNDC5_uc010jnz.2_5'UTR|TXNDC5_uc010joa.1_5'UTR	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	101	Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					GTCTCCCAGGTCATTCCAAGT	0.572													C	7904918	T	C	7904918	3	2	189	1	0	0	0	0	1	0	0	0	16796	1667	58	3	1032	3	TXNDC5	6	7904918	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	324005	7904918	163210149	1681	99538											
MAK	4117	broad.mit.edu	37	chr6	10764770	10764770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggttcacaatatttaggTtttttgctgtaggattataa	8	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:10764770T>C	uc003mzl.2	-	13	2016	c.1787A>G	c.(1786-1788)AAC>AGC	p.N596S	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.N596S	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	596					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AATATTTAGGTTTTTTGCTGT	0.468													C	10764770	T	C	10764770	3	2	189	1	0	0	0	0	1	0	0	0	9197	1725	60	3	88	3	MAK	6	10764770	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2859852	10764770	160350297	1682	99539											
MAK	4117	broad.mit.edu	37	chr6	10791920	10791920	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatcttaccgaaatggagaaTcttttttccttttttcttta	4	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:10791920T>A	uc003mzl.2	-	9	1533	c.1304A>T	c.(1303-1305)GAT>GTT	p.D435V	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.D435V|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	435					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AAATGGAGAATCTTTTTTCCT	0.348													A	10791920	T	A	10791920	3	1	189	1	0	0	0	0	1	0	0	0	9197	1435	50	5	587	5	MAK	6	10791920	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	27150	10791920	160323147	1683	99540											
NEDD9	4739	broad.mit.edu	37	chr6	11190367	11190367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagccaccgtgtgggtActccgttgagttcatgatgc	14	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:11190367A>G	uc003mzv.2	-	5	1902	c.1735T>C	c.(1735-1737)TAC>CAC	p.Y579H	NEDD9_uc010joz.2_Missense_Mutation_p.Y579H|NEDD9_uc003mzw.3_Missense_Mutation_p.Y433H	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	579					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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCGTGTGGGTACTCCGTTGAG	0.622													G	11190367	A	G	11190367	3	3	189	1	0	0	0	0	1	0	0	0	10313	391	14	3	781	3	NEDD9	6	11190367	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	398447	11190367	159924700	1684	99541											
HIVEP1	3096	broad.mit.edu	37	chr6	12131031	12131031	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagagtatgtatatgtcCgaggcaggggaagaggaaaa	15	3	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:12131031C>T	uc003nac.2	+	6	6420	c.6241C>T	c.(6241-6243)CGA>TGA	p.R2081*	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2081					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGTATATGTCCGAGGCAGGGG	0.343													T	12131031	C	T	12131031	4	4	189	1	0	0	0	0	0	1	0	0	7186	644	23	1	6259	1	HIVEP1	6	12131031	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	940664	12131031	158984036	1685	99542											
HIVEP1	3096	broad.mit.edu	37	chr6	12164370	12164371	+	Frame_Shift_Ins	INS	-	-	A													cagtccagcgggaaaatgcaINSaaaaaagttctgaatccacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:12164369_12164370C>CA	uc003nac.3	+	8	8011_8012	c.7832_7833C>CA	c.(7831-7833)gcafs	p.A2611fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2611					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)				CGGGAAAATGCAAAAAAAGTTC	0.54													A	12164371	-	A	12164370	7	5	189	1	0	1	1	0	0	0	0	0	7186	117	5	0	7863	0	HIVEP1	6	12164370	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	33339	12164370	158950697	1686	99543											
GFOD1	54438	broad.mit.edu	37	chr6	13486930	13486930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggttaatgcacaccaagtCcacgtcctgatgcagcagca	9	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:13486930C>T	uc003nat.1	-	1	858	c.193G>A	c.(193-195)GAC>AAC	p.D65N	GFOD1_uc003nas.1_5'Flank|C6orf114_uc003nav.2_5'Flank	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	65						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CACACCAAGTCCACGTCCTGA	0.627													T	13486930	C	T	13486930	3	4	189	1	0	0	0	0	1	0	0	0	6343	855	30	4	987	4	GFOD1	6	13486930	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1322560	13486930	157628137	1687	99544											
SIRT5	23408	broad.mit.edu	37	chr6	13595769	13595769	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagaattacaagagtcCaatttgtccagctttatcag	9	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:13595769C>A	uc003nay.2	+	6	832	c.536C>A	c.(535-537)CCA>CAA	p.P179Q	SIRT5_uc003naw.2_Missense_Mutation_p.P179Q|SIRT5_uc003nax.2_Missense_Mutation_p.P71Q|SIRT5_uc011dit.1_Missense_Mutation_p.P179Q	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	179	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TACAAGAGTCCAATTTGTCCA	0.338													A	13595769	C	A	13595769	3	1	189	1	0	0	0	0	1	0	0	0	14341	594	21	5	550	5	SIRT5	6	13595769	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	108839	13595769	157519298	1688	99545											
RNF182	221687	broad.mit.edu	37	chr6	13977682	13977682	+	Frame_Shift_Del	DEL	C	C	-													ccctactgagctgctgctcaCccccaagaggctggcctctc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:13977681_13977681AC>A	uc021ylw.1	+	2	824	c.331_331AC>A	c.(331-333)accfs	p.T111fs	RNF182_uc021ylx.1_Frame_Shift_Del_p.T111fs|RNF182_uc003nbe.3_Frame_Shift_Del_p.T111fs|RNF182_uc003nbf.3_Frame_Shift_Del_p.T111fs|RNF182_uc003nbg.3_Frame_Shift_Del_p.T111fs|RNF182_uc021yly.1_Frame_Shift_Del_p.T111fs	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	111						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)			GCTGCTGCTCACCCCCAAGAG	0.552													-	13977682	C	-	13977682	7	5	189	1	0	1	0	1	0	0	0	0	13466	507	18	0	334	0	RNF182	6	13977682	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	381913	13977682	157137385	1689	99546											
MYLIP	29116	broad.mit.edu	37	chr6	16141988	16141988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaccagaacactgccaaGtataactatgaggagctctg	8	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:16141988G>T	uc003nbq.2	+	3	648	c.411G>T	c.(409-411)AAG>AAT	p.K137N	MYLIP_uc003nbr.2_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	137	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACACTGCCAAGTATAACTATG	0.498													T	16141988	G	T	16141988	3	4	189	1	0	0	0	0	1	0	0	0	10055	1020	36	5	421	5	MYLIP	6	16141988	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2164306	16141988	154973079	1690	99547											
ATXN1	6310	broad.mit.edu	37	chr6	16326924	16326924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggtaggcggcctgggTgaccagggcctcagggttga	20	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:16326924T>C	uc003nbt.2	-	8	2589	c.1618A>G	c.(1618-1620)ACC>GCC	p.T540A	ATXN1_uc010jpi.2_Missense_Mutation_p.T540A|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	540	Self-association.|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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCGGCCTGGGTGACCAGGGCC	0.667													C	16326924	T	C	16326924	3	2	189	1	0	0	0	0	1	0	0	0	1209	1696	59	3	837	3	ATXN1	6	16326924	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	184936	16326924	154788143	1691	99548											
ATXN1	6310	broad.mit.edu	37	chr6	16326947	16326947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcctcagggttgaagTtctcgctcttgggaagggcg	16	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:16326947T>C	uc003nbt.2	-	8	2566	c.1595A>G	c.(1594-1596)AAC>AGC	p.N532S	ATXN1_uc010jpi.2_Missense_Mutation_p.N532S|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	532	Self-association.				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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGGGTTGAAGTTCTCGCTCTT	0.672													C	16326947	T	C	16326947	3	2	189	1	0	0	0	0	1	0	0	0	1209	1725	60	3	860	3	ATXN1	6	16326947	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	23	16326947	154788120	1692	99549											
NUP153	9972	broad.mit.edu	37	chr6	17628924	17628924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctccaaaggcaaaagtgGcttttgctggctgttcagat	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:17628924G>A	uc003ncd.1	-	18	3706	c.3506C>T	c.(3505-3507)GCC>GTC	p.A1169V	NUP153_uc011dje.1_Missense_Mutation_p.A1200V|NUP153_uc010jpl.1_Missense_Mutation_p.A1127V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1169					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			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCAAAAGTGGCTTTTGCTGG	0.323													A	17628924	G	A	17628924	3	1	189	1	0	0	0	0	1	0	0	0	10755	1203	42	2	941	2	NUP153	6	17628924	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1301977	17628924	153486143	1693	99550											
NUP153	9972	broad.mit.edu	37	chr6	17637582	17637582	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtcaatgtaagggctcGcttcacacaagttccaggtt	9	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:17637582G>A	uc003ncd.1	-	16	2466	c.2266C>T	c.(2266-2268)CGA>TGA	p.R756*	NUP153_uc011dje.1_Nonsense_Mutation_p.R787*|NUP153_uc010jpl.1_Nonsense_Mutation_p.R714*	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	756					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			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTAAGGGCTCGCTTCACACAA	0.438													A	17637582	G	A	17637582	4	1	189	1	0	0	0	0	0	1	0	0	10755	1095	38	1	2189	1	NUP153	6	17637582	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	8658	17637582	153477485	1694	99551											
KIF13A	63971	broad.mit.edu	37	chr6	17837308	17837308	+	Frame_Shift_Del	DEL	C	C	-													tcatagaggtttggctgttgCcccccaagttgtcctgccaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:17837307_17837307GC>G	uc003ncg.4	-	10	1117	c.957_957GC>C	c.(955-957)ggcfs	p.G319fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.G319fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.G319fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.G319fs|KIF13A_uc003ncj.3_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	319					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome 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)			TTTGGCTGTTGCCCCCCAAGT	0.453													-	17837308	C	-	17837308	7	5	189	1	0	1	0	1	0	0	0	0	8274	739	26	0	4602	0	KIF13A	6	17837308	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	199726	17837308	153277759	1695	99552											
CDKAL1	54901	broad.mit.edu	37	chr6	21065338	21065338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctggagaaacagatcAggattttcaagaaacagtga	9	6	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:21065338A>G	uc003ndc.1	+	12	1289	c.1115A>G	c.(1114-1116)CAG>CGG	p.Q372R	CDKAL1_uc003ndd.1_Missense_Mutation_p.Q372R|CDKAL1_uc003nde.1_Missense_Mutation_p.Q302R|CDKAL1_uc003ndf.1_5'UTR	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	372					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	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)			GAAACAGATCAGGATTTTCAA	0.343													G	21065338	A	G	21065338	3	3	189	1	0	0	0	0	1	0	0	0	3152	188	7	3	1153	3	CDKAL1	6	21065338	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3228030	21065338	150049729	1696	99553											
PRL	5617	broad.mit.edu	37	chr6	22290499	22290499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctccggggcttcttgcatAccacgtacttccgtgaccag	10	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:22290499A>G	uc003ndp.2	-	4	915	c.396T>C	c.(394-396)GGT>GGC	p.G132G	PRL_uc003ndo.2_Silent_p.G133G|PRL_uc003ndq.2_Silent_p.G132G	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	132					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				0	Ovarian(93;0.163)					CTTCTTGCATACCACGTACTT	0.483													G	22290499	A	G	22290499	2	3	189	1	0	0	0	0	0	0	0	1	12528	378	14	3		3	PRL	6	22290499	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1225161	22290499	148824568	1697	99554											
MRS2	57380	broad.mit.edu	37	chr6	24403466	24403466	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccggctccgcgtggcaggTactgcccttccccggcaaca	12	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:24403466T>C	uc003neb.2	+	1	312	c.190_splice	c.e1+2	p.G64_splice	MRS2_uc003nea.2_Splice_Site_p.G64_splice|MRS2_uc011djl.1_Splice_Site_p.G64_splice|MRS2_uc011djm.1_Splice_Site|MRS2_uc011djn.1_Splice_Site_p.G64_splice	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor						ion transport	integral to membrane|mitochondrial inner membrane					0						GCGTGGCAGGTACTGCCCTTC	0.711													C	24403466	T	C	24403466	5	2	189	1	0	0	0	0	0	0	1	0	9851	1652	57	3	194	3	MRS2	6	24403466	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2112967	24403466	146711601	1698	99555											
MRS2	57380	broad.mit.edu	37	chr6	24423918	24423918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagcatcctaacaaaccGttaggaacagccccgtggat	10	11	0	0	rs114959453	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:24423918G>A	uc003neb.2	+	11	1450	c.1328G>A	c.(1327-1329)CGT>CAT	p.R443H	MRS2_uc011djl.1_Missense_Mutation_p.R446H|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.R393H|MRS2_uc003nec.2_Missense_Mutation_p.R320H	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	443	Mitochondrial matrix (Potential).				ion transport	integral to membrane|mitochondrial inner membrane					0						CTAACAAACCGTTAGGAACAG	0.383													A	24423918	G	A	24423918	3	1	189	1	0	0	0	0	1	0	0	0	9851	1145	40	1	1370	1	MRS2	6	24423918	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	20452	24423918	146691149	1699	99556											
TDP2	51567	broad.mit.edu	37	chr6	24666997	24666997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttgcgaccgaggcaaActccacacacagaagtcgcc	10	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:24666997A>G	uc003nej.2	-	1	119	c.94T>C	c.(94-96)TTT>CTT	p.F32L	TDP2_uc003nei.2_5'Flank|TDP2_uc010jpu.1_Missense_Mutation_p.F32L|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	32					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						ACCGAGGCAAACTCCACACAC	0.627								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	24666997	A	G	24666997	3	3	189	1	0	0	0	0	1	0	0	0	15726	43	2	3	1022	3	TDP2	6	24666997	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	243079	24666997	146448070	1700	99557											
SCGN	10590	broad.mit.edu	37	chr6	25652698	25652698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctggcaggtctggcagCgctttgatgcggatggtgag	17	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:25652698C>T	uc003nfb.2	+	1	270	c.67C>T	c.(67-69)CGC>TGC	p.R23C	SCGN_uc010jpz.2_5'UTR	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	23	EF-hand 1.					extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						GGTCTGGCAGCGCTTTGATGC	0.612													T	25652698	C	T	25652698	3	4	189	1	0	0	0	0	1	0	0	0	13903	768	27	1	69	1	SCGN	6	25652698	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	985701	25652698	145462369	1701	99558											
SLC17A2	10246	broad.mit.edu	37	chr6	25921520	25921521	+	Frame_Shift_Ins	INS	-	-	T													agcaaaccagcaccaagcatINStttttttgctccaaatatcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:25921519_25921520A>AT	uc011dkb.2	-	2	444_445	c.361_362T>AT	c.(361-363)atgfs	p.M121fs	SLC17A2_uc011dkc.2_Frame_Shift_Ins_p.M121fs|SLC17A2_uc003nfl.3_Frame_Shift_Ins_p.M121fs			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGCACCAAGCATTTTTTTTGCT	0.455													T	25921521	-	T	25921520	7	5	189	1	0	1	1	0	0	0	0	0	14417	1493	52	0	981	0	SLC17A2	6	25921520	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	268822	25921520	145193547	1702	99559											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043727	26043727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccttggatgagatgccGgtgtcggggtggacctgctt	17	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:26043727G>A	uc003nfu.2	-	1	159	c.159C>T	c.(157-159)ACC>ACT	p.T53T	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	53					nucleosome assembly	nucleosome|nucleus	DNA binding				0						ATGAGATGCCGGTGTCGGGGT	0.542													A	26043727	G	A	26043727	2	1	189	1	0	0	0	0	0	0	0	1	7141	1103	39	1		1	HIST1H2BB	6	26043727	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	122207	26043727	145071340	1703	99560											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056487	26056487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagagcagccagagaaActccgctacgctctttagag	9	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:26056487A>G	uc003nfw.2	-	1	213	c.170T>C	c.(169-171)GTT>GCT	p.V57A		NM_005319	NP_005310	P16403	H12_HUMAN	histone cluster 1, H1c	57	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)|skin(2)	5						AGCCAGAGAAACTCCGCTACG	0.572													G	26056487	A	G	26056487	3	3	189	1	0	0	0	0	1	0	0	0	7124	43	2	3	475	3	HIST1H1C	6	26056487	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	12760	26056487	145058580	1704	99561											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158506	26158506	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcgcagccgcaaggagAgctattcagtgtatgtgtac	13	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:26158506A>T	uc003ngr.2	+	1	158	c.109A>T	c.(109-111)AGC>TGC	p.S37C	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.S37C	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	37					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						CCGCAAGGAGAGCTATTCAGT	0.542													T	26158506	A	T	26158506	3	4	189	1	0	0	0	0	1	0	0	0	7143	304	11	5	111	5	HIST1H2BD	6	26158506	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	102019	26158506	144956561	1705	99562											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26251978	26251978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaagcgtaaacgcagcCgcaaggagagctactccgta	12	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:26251978C>T	uc003nhh.2	+	1	100	c.100C>T	c.(100-102)CGC>TGC	p.R34C	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	34					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3						TAAACGCAGCCGCAAGGAGAG	0.557													T	26251978	C	T	26251978	3	4	189	1	0	0	0	0	1	0	0	0	7147	652	23	1	102	1	HIST1H2BH	6	26251978	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	93472	26251978	144863089	1706	99563											
BTN2A1	11120	broad.mit.edu	37	chr6	26463655	26463655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctcttcatggtcaccaCggctgtgatcatcagagaca	10	13	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:26463655C>T	uc003nib.1	+	4	826	c.614C>T	c.(613-615)ACG>ATG	p.T205M	BTN2A1_uc003nic.1_Missense_Mutation_p.T205M|BTN2A1_uc003nid.1_Missense_Mutation_p.T53M|BTN2A1_uc011dko.1_Missense_Mutation_p.T144M|BTN2A1_uc010jqk.1_5'Flank	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	205	Extracellular (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						ATGGTCACCACGGCTGTGATC	0.542													T	26463655	C	T	26463655	3	4	189	1	0	0	0	0	1	0	0	0	1560	536	19	1	624	1	BTN2A1	6	26463655	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	211677	26463655	144651412	1707	99564											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114940	27114940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagcaaggcggtaaagcTcgcgccaaggccaagacccg	14	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:27114940T>C	uc003niz.2	+	1	33	c.33T>C	c.(31-33)GCT>GCC	p.A11A	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	11					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGGTAAAGCTCGCGCCAAGG	0.582													C	27114940	T	C	27114940	2	2	189	1	0	0	0	0	0	0	0	1	7134	1538	54	3		3	HIST1H2AH	6	27114940	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	651285	27114940	144000127	1708	99565											
HIST1H4L	8368	broad.mit.edu	37	chr6	27841075	27841075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggcgtgctccgtgtaggTaactgcatcgcggattacat	12	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:27841075T>C	uc003njz.2	-	1	215	c.214A>G	c.(214-216)ACC>GCC	p.T72A	HIST1H3I_uc003njy.2_5'Flank	NM_003546	NP_003537	P62805	H4_HUMAN	histone cluster 1, H4l	72					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|breast(1)	2						TCCGTGTAGGTAACTGCATCG	0.562													C	27841075	T	C	27841075	3	2	189	1	0	0	0	0	1	0	0	0	7176	1638	57	3	101	3	HIST1H4L	6	27841075	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	726135	27841075	143273992	1709	99566											
ZNF165	7718	broad.mit.edu	37	chr6	28056918	28056918	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatgctatgaatgtaatgaAtgtgggaaaagctttgcaga	12	3	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:28056918A>T	uc003nkg.2	+	5	2212	c.1128A>T	c.(1126-1128)GAA>GAT	p.E376D	ZNF165_uc003nkh.2_Missense_Mutation_p.E376D|ZNF165_uc003nki.3_Missense_Mutation_p.E376D|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	376	C2H2-type 3.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AATGTAATGAATGTGGGAAAA	0.448													T	28056918	A	T	28056918	3	4	189	1	0	0	0	0	1	0	0	0	17737	98	4	5	1138	5	ZNF165	6	28056918	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	215843	28056918	143058149	1710	99567											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093556	28093556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagactggagaggaggCagtgacggtactggaggatc	17	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:28093556C>T	uc003nkm.2	+	2	435	c.335C>T	c.(334-336)GCA>GTA	p.A112V	uc010jqw.1_Intron|uc003nkk.1_RNA|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Missense_Mutation_p.A112V	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	112	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GGAGAGGAGGCAGTGACGGTA	0.328													T	28093556	C	T	28093556	3	4	189	1	0	0	0	0	1	0	0	0	18226	710	25	2	337	2	ZSCAN16	6	28093556	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	36638	28093556	143021511	1711	99568											
ZNF193	7746	broad.mit.edu	37	chr6	28200920	28200920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacactgcaacctcattcgCcatcagaagatccacacagt	6	15	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:28200920C>T	uc003nkq.1	+	4	1264	c.1149C>T	c.(1147-1149)CGC>CGT	p.R383R	ZNF193_uc003nkr.1_Silent_p.R383R|ZNF193_uc010jqz.1_Silent_p.R434R	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	383	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACCTCATTCGCCATCAGAAGA	0.498													T	28200920	C	T	28200920	2	4	189	1	0	0	0	0	0	0	0	1	17754	726	26	2		2	ZNF193	6	28200920	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	107364	28200920	142914147	1712	99569											
NKAPL	222698	broad.mit.edu	37	chr6	28227368	28227368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcgctctgggtcgcgaggGcggctcccaagattccgcaa	14	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:28227368G>A	uc003nkt.2	+	1	271	c.219G>A	c.(217-219)GGG>GGA	p.G73G	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	73										upper_aerodigestive_tract(1)|ovary(1)	2						GGTCGCGAGGGCGGCTCCCAA	0.612													A	28227368	G	A	28227368	2	1	189	1	0	0	0	0	0	0	0	1	10440	1190	42	2		2	NKAPL	6	28227368	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	26448	28227368	142887699	1713	99570											
ZNF323	64288	broad.mit.edu	37	chr6	28294405	28294405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctctggtgctcaatgagTactgaactcttagtgaagct	9	8	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:28294405T>C	uc003nla.2	-	4	1159	c.759A>G	c.(757-759)GTA>GTG	p.V253V	ZNF323_uc003nld.2_Silent_p.V253V|ZNF323_uc010jra.2_Silent_p.V253V|ZNF323_uc003nlb.2_Silent_p.V94V|ZNF323_uc010jrb.2_Silent_p.V94V|ZNF323_uc003nlc.2_Silent_p.V253V	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	253	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GCTCAATGAGTACTGAACTCT	0.502													C	28294405	T	C	28294405	2	2	189	1	0	0	0	0	0	0	0	1	17840	1625	57	3		3	ZNF323	6	28294405	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	67037	28294405	142820662	1714	99571											
ZNF311	282890	broad.mit.edu	37	chr6	28963503	28963503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgcttaggtctgagctccGactgaaggcccttccacact	9	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:28963503G>A	uc003nlu.2	-	7	1789	c.1276C>T	c.(1276-1278)CGG>TGG	p.R426W	ZNF311_uc011dlk.1_Missense_Mutation_p.R334W|ZNF311_uc003nlv.2_Missense_Mutation_p.R334W	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	426	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TCTGAGCTCCGACTGAAGGCC	0.512													A	28963503	G	A	28963503	3	1	189	1	0	0	0	0	1	0	0	0	17831	1057	37	1	728	1	ZNF311	6	28963503	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	669098	28963503	142151564	1715	99572											
OR2B3	442184	broad.mit.edu	37	chr6	29054534	29054534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacagcgtggcatgttAagagtcaaggaagactgcag	13	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:29054534A>G	uc003nlx.2	-	1	557	c.492T>C	c.(490-492)CTT>CTC	p.L164L		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1						GTGGCATGTTAAGAGTCAAGG	0.483													G	29054534	A	G	29054534	2	3	189	1	0	0	0	0	0	0	0	1	10990	349	13	3		3	OR2B3	6	29054534	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	91031	29054534	142060533	1716	99573											
OR2J2	26707	broad.mit.edu	37	chr6	29141711	29141711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtatgctggttgcatggTtcaactttactttgttcttg	9	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:29141711T>C	uc011dlm.1	+	1	401	c.299T>C	c.(298-300)GTT>GCT	p.V100A		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGTTGCATGGTTCAACTTTAC	0.478													C	29141711	T	C	29141711	3	2	189	1	0	0	0	0	1	0	0	0	11003	1725	60	3	301	3	OR2J2	6	29141711	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	87177	29141711	141973356	1717	99574											
OR2J2	26707	broad.mit.edu	37	chr6	29142197	29142197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgtgcatgtatctccAgccaccatcagaaaattctc	6	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:29142197A>G	uc011dlm.1	+	1	887	c.785A>G	c.(784-786)CAG>CGG	p.Q262R		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGTATCTCCAGCCACCATCA	0.428													G	29142197	A	G	29142197	3	3	189	1	0	0	0	0	1	0	0	0	11003	188	7	3	787	3	OR2J2	6	29142197	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	486	29142197	141972870	1718	99575											
OR14J1	442191	broad.mit.edu	37	chr6	29275052	29275052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaattcattaatgagattGcactggctgcattcacaacg	8	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:29275052G>A	uc011dln.1	+	1	586	c.586G>A	c.(586-588)GCA>ACA	p.A196T		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TAATGAGATTGCACTGGCTGC	0.438													A	29275052	G	A	29275052	3	1	189	1	0	0	0	0	1	0	0	0	10948	1319	46	2	588	2	OR14J1	6	29275052	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	132855	29275052	141840015	1719	99576											
OR11A1	26531	broad.mit.edu	37	chr6	29394640	29394640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcagagggtgcaacaTaaaagatcatgagcgttcca	12	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:29394640T>C	uc003nmg.2	-	1	870	c.779A>G	c.(778-780)TAT>TGT	p.Y260C		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGGTGCAACATAAAAGATCAT	0.522													C	29394640	T	C	29394640	3	2	189	1	0	0	0	0	1	0	0	0	10924	1406	49	3	172	3	OR11A1	6	29394640	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	119588	29394640	141720427	1720	99577											
HLA-F	3134	broad.mit.edu	37	chr6	29694737	29694737	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgctcttccaaggaTatttgggctgcctccggagt	15	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:29694737T>A	uc003nno.3	+	7	1238	c.1114T>A	c.(1114-1116)TAT>AAT	p.Y372N	HLA-F_uc011dlx.1_Missense_Mutation_p.Y372N|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					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				0						CTTCCAAGGATATTTGGGCTG	0.493													A	29694737	T	A	29694737	3	1	189	1	0	0	0	0	1	0	0	0	7211	1406	49	5	1149	5	HLA-F	6	29694737	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	300097	29694737	141420330	1721	99578											
HLA-G	3135	broad.mit.edu	37	chr6	29796520	29796520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggctgaacaaaggagaGcctacctggagggcacgtgc	15	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:29796520G>A	uc003nnw.2	+	4	722	c.544G>A	c.(544-546)GCC>ACC	p.A182T	HLA-G_uc011dmb.1_Missense_Mutation_p.A154T|HLA-G_uc003raj.3_Missense_Mutation_p.A187T|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	182	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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			ovary(3)|central_nervous_system(1)	4						ACAAAGGAGAGCCTACCTGGA	0.657													A	29796520	G	A	29796520	3	1	189	1	0	0	0	0	1	0	0	0	7212	971	34	2	554	2	HLA-G	6	29796520	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	101783	29796520	141318547	1722	99579											
PPP1R11	6992	broad.mit.edu	37	chr6	30037082	30037082	+	Frame_Shift_Del	DEL	A	A	-													tccagggccaatgcagcactAaatccctctctcctccagca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:30037081_30037081TA>T	uc003npb.3	+	2	635	c.379_379TA>T	c.(379-381)taafs	p.*127fs	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	0						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AATGCAGCACTAAATCCCTCT	0.612													-	30037082	A	-	30037082	7	5	189	1	0	1	0	1	0	0	0	0	12353	369	13	0	390	0	PPP1R11	6	30037082	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	240562	30037082	141077985	1723	99580											
TRIM31	11074	broad.mit.edu	37	chr6	30078246	30078246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagctgcctgggtggCatgttctgcttggtcttcag	13	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:30078246C>T	uc003npg.1	-	4	833	c.723G>A	c.(721-723)ATG>ATA	p.M241I	TRIM31_uc003npi.3_RNA	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	tripartite motif protein 31	241						mitochondrion	ligase activity|zinc ion binding			lung(1)	1						GCCTGGGTGGCATGTTCTGCT	0.557													T	30078246	C	T	30078246	3	4	189	1	0	0	0	0	1	0	0	0	16502	710	25	2	578	2	TRIM31	6	30078246	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	41164	30078246	141036821	1724	99581											
PPP1R10	5514	broad.mit.edu	37	chr6	30571371	30571371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaacttggagcctcctgCcccatcaggtgagccacctg	11	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:30571371C>T	uc003nqn.1	-	16	2197	c.1645G>A	c.(1645-1647)GCA>ACA	p.A549T	PPP1R10_uc010jsc.1_Missense_Mutation_p.A203T	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	549	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GAGCCTCCTGCCCCATCAGGT	0.537													T	30571371	C	T	30571371	3	4	189	1	0	0	0	0	1	0	0	0	12352	739	26	2	1197	2	PPP1R10	6	30571371	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	493125	30571371	140543696	1725	99582											
MDC1	9656	broad.mit.edu	37	chr6	30673546	30673546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagatgtgggcttgggAgtgactggctgggctgtgga	20	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:30673546A>G	uc003nrg.3	-	10	3854	c.3414T>C	c.(3412-3414)ACT>ACC	p.T1138T	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.T745T	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1138	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)|ovary(1)|kidney(1)	4						TGGGCTTGGGAGTGACTGGCT	0.577								Other_conserved_DNA_damage_response_genes					G	30673546	A	G	30673546	2	3	189	1	0	0	0	0	0	0	0	1	9403	291	11	3		3	MDC1	6	30673546	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	102175	30673546	140441521	1726	99583											
IER3	8870	broad.mit.edu	37	chr6	30712102	30712102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactcgagggtagagaAccctgcggctgcgctttcgg	13	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:30712102A>G	uc003nrn.2	-	1	226	c.194T>C	c.(193-195)GTT>GCT	p.V65A	FLOT1_uc003nrm.2_5'Flank|FLOT1_uc011dmr.1_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	immediate early response 3	65	Cytoplasmic (Potential).				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding				0						AGGGTAGAGAACCCTGCGGCT	0.697													G	30712102	A	G	30712102	3	3	189	1	0	0	0	0	1	0	0	0	7506	43	2	3	284	3	IER3	6	30712102	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	38556	30712102	140402965	1727	99584											
DDR1	780	broad.mit.edu	37	chr6	30866961	30866961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggccgcctgcctgccCgcagggcctatatgagctga	13	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:30866961C>T	uc003nrr.2	+	19	2889	c.2630C>T	c.(2629-2631)CCG>CTG	p.P877L	DDR1_uc010jse.2_Missense_Mutation_p.P840L|DDR1_uc003nrq.2_Missense_Mutation_p.P840L|DDR1_uc003nrs.2_Missense_Mutation_p.P877L|DDR1_uc003nrt.2_Missense_Mutation_p.P840L|DDR1_uc011dms.1_Missense_Mutation_p.P858L|DDR1_uc003nru.2_Missense_Mutation_p.P840L|DDR1_uc003nrv.2_Missense_Mutation_p.P883L|DDR1_uc003nrz.1_Silent_p.P241P	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	877	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CCTGCCTGCCCGCAGGGCCTA	0.582													T	30866961	C	T	30866961	3	4	189	1	0	0	0	0	1	0	0	0	4336	652	23	1	2714	1	DDR1	6	30866961	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	154859	30866961	140248106	1728	99585											
VARS2	57176	broad.mit.edu	37	chr6	30887979	30887979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccatgacctccctctgcGgggactggctgcaggtggta	15	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:30887979G>A	uc003nsc.1	+	12	1911	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	VARS2_uc011dmx.1_Missense_Mutation_p.G427R|VARS2_uc011dmy.1_Missense_Mutation_p.G287R|VARS2_uc011dmz.1_Missense_Mutation_p.G457R|VARS2_uc011dna.1_Missense_Mutation_p.G425R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	427					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CTCCCTCTGCGGGGACTGGCT	0.577													A	30887979	G	A	30887979	3	1	189	1	0	0	0	0	1	0	0	0	17121	1116	39	1	1419	1	VARS2	6	30887979	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	21018	30887979	140227088	1729	99586											
CCHCR1	54535	broad.mit.edu	37	chr6	31113487	31113487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcaccccgaatggtgtggAccttgcggacagcatagctg	13	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31113487A>G	uc003nsr.3	-	11	1535	c.1412T>C	c.(1411-1413)GTC>GCC	p.V471A	CCHCR1_uc011dne.1_Missense_Mutation_p.V471A|CCHCR1_uc003nsq.3_Missense_Mutation_p.V524A|CCHCR1_uc003nsp.3_Missense_Mutation_p.V560A|CCHCR1_uc010jsk.1_Missense_Mutation_p.V471A	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	471					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						AATGGTGTGGACCTTGCGGAC	0.612													G	31113487	A	G	31113487	3	3	189	1	0	0	0	0	1	0	0	0	2877	275	10	3	968	3	CCHCR1	6	31113487	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	225508	31113487	140001580	1730	99587											
HLA-C	3107	broad.mit.edu	37	chr6	31323363	31323364	+	Frame_Shift_Ins	INS	-	-	G													gtgggtcacgtgtgtctttgINSgggggtctgatgggaagagt					rs77061046		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31323362_31323363T>TG	uc003nth.2	-	3	680_681	c.626_627A>CA	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Ins_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	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	MHC class I protein complex|integral to membrane				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						CGTGTGTCTTTGGGGGGTCTGA	0.579													G	31323364	-	G	31323363	7	5	189	1	0	1	1	0	0	0	0	0	7197	1348	47	0		0	HLA-C	6	31323363	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	209876	31323363	139791704	1731	99588											
NFKBIL1	4795	broad.mit.edu	37	chr6	31525506	31525506	+	Frame_Shift_Del	DEL	C	C	-													gccaaattttgggctggggaCccccctgggattctgctgaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31525505_31525505AC>A	uc003nub.3	+	2	554	c.435_435AC>A	c.(433-435)ggafs	p.G145fs	NFKBIL1_uc011dnr.2_Frame_Shift_Del_p.G122fs|NFKBIL1_uc011dns.2_Frame_Shift_Del_p.G122fs|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Frame_Shift_Del_p.G145fs	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	145					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TGGGCTGGGGACCCCCCTGGG	0.582													-	31525506	C	-	31525506	7	5	189	1	0	1	0	1	0	0	0	0	10381	507	18	0	446	0	NFKBIL1	6	31525506	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	202143	31525506	139589561	1732	99589											
TNF	7124	broad.mit.edu	37	chr6	31543582	31543582	+	Frame_Shift_Del	DEL	G	G	-													aggcgctccccaagaagacaGgggggccccagggctccagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31543581_31543581AG>A	uc003nui.3	+	0	232	c.63_63AG>A	c.(61-63)acafs	p.T21fs	TNF_uc003nuj.3_5'Flank	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	21					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CCAAGAAGACAGGGGGGCCCC	0.642									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				-	31543582	G	-	31543582	7	5	189	1	0	1	0	1	0	0	0	0	16268	1000	35	0	66	0	TNF	6	31543582	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	18076	31543582	139571485	1733	99590											
TNF	7124	broad.mit.edu	37	chr6	31544976	31544984	+	In_Frame_Del	DEL	AACCAGCTG	AACCAGCTG	-													atggcgtggagctgagagatAaccagctggtggtgccatca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31544975_31544983TAACCAGCTG>T	uc003nui.3	+	3	532_540	c.363_371TAACCAGCTG>T	c.(361-372)gataaccagctg>gaTg	p.NQL122del	TNF_uc003nuj.3_5'UTR	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	122					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	p.D121N(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	AGCTGAGAGATAACCAGCTGGTGGTGCCA	0.627									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				-	31544984	AACCAGCTG	-	31544976	7	5	189	1	0	1	0	1	0	0	0	0	16268	362	13	0	378	0	TNF	6	31544976	In_Frame_Del	DEL	AACCAGCTG	TCGA-CG-5721-01A-11D-1600-08	1394	31544976	139570091	1734	99591											
HSPA1L	3305	broad.mit.edu	37	chr6	31779558	31779558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaacagtgttctggggAttcattgctacctggttctt	9	8	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31779558A>G	uc003nxh.2	-	2	375	c.192T>C	c.(190-192)AAT>AAC	p.N64N	HSPA1L_uc010jte.2_Silent_p.N64N	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	64					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						TGTTCTGGGGATTCATTGCTA	0.502													G	31779558	A	G	31779558	2	3	189	1	0	0	0	0	0	0	0	1	7410	330	12	3		3	HSPA1L	6	31779558	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	234582	31779558	139335509	1735	99592											
EHMT2	10919	broad.mit.edu	37	chr6	31851644	31851644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcagttctctgagatgTacttgtaatcctcagggcag	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31851644T>C	uc003nxz.1	-	22	2865	c.2855A>G	c.(2854-2856)TAC>TGC	p.Y952C	EHMT2_uc003nxv.1_5'UTR|EHMT2_uc003nxw.1_5'UTR|EHMT2_uc003nxx.1_Missense_Mutation_p.Y150C|EHMT2_uc003nxy.1_Missense_Mutation_p.Y750C|EHMT2_uc011don.1_Missense_Mutation_p.Y975C|EHMT2_uc003nya.1_Missense_Mutation_p.Y918C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	952					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTCTGAGATGTACTTGTAATC	0.597													C	31851644	T	C	31851644	3	2	189	1	0	0	0	0	1	0	0	0	4984	1638	57	3	805	3	EHMT2	6	31851644	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	72086	31851644	139263423	1736	99593											
SKIV2L	6499	broad.mit.edu	37	chr6	31931254	31931254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgtgcccctggagcacTatcttttcacagggaacagc	10	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:31931254T>C	uc003nyn.1	+	14	1857	c.1468T>C	c.(1468-1470)TAT>CAT	p.Y490H	SKIV2L_uc011dou.1_Missense_Mutation_p.Y332H|SKIV2L_uc011dov.1_Missense_Mutation_p.Y297H	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	490						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CCTGGAGCACTATCTTTTCAC	0.567													C	31931254	T	C	31931254	3	2	189	1	0	0	0	0	1	0	0	0	14359	1522	53	3	1522	3	SKIV2L	6	31931254	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	79610	31931254	139183813	1737	99594											
TNXB	7148	broad.mit.edu	37	chr6	32017065	32017065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccgtgatgcccacggtggAcactgggcccacgcgctgcc	13	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:32017065A>G	uc003nzl.2	-	28	9935	c.9733T>C	c.(9733-9735)TCC>CCC	p.S3245P	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3292	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCCACGGTGGACACTGGGCCC	0.652													G	32017065	A	G	32017065	3	3	189	1	0	0	0	0	1	0	0	0	16343	275	10	3	5048	3	TNXB	6	32017065	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	85811	32017065	139098002	1738	99595											
HLA-DQB1	3119	broad.mit.edu	37	chr6	32632719	32632719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgtcaccgcgcggtAcacccccacgtcgctgtcga	12	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:32632719A>G	uc003obw.2	-	2	317	c.235T>C	c.(235-237)TAC>CAC	p.Y79H	HLA-DQB1_uc010juc.1_Missense_Mutation_p.Y34H|HLA-DQB1_uc003obv.2_Missense_Mutation_p.Y79H|HLA-DQB1_uc011dqd.1_Missense_Mutation_p.Y79H|HLA-DQB1_uc011dqe.1_Missense_Mutation_p.Y79H	NM_002123	NP_002114	P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ	79	Extracellular (Potential).|Beta-1.				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				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCGCGCGGTACACCCCCACG	0.637									Melanoma_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia|T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Sj_gren_syndrome				G	32632719	A	G	32632719	3	3	189	1	0	0	0	0	1	0	0	0	7206	391	14	3	566	3	HLA-DQB1	6	32632719	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	615654	32632719	138482348	1739	99596											
BRD2	6046	broad.mit.edu	37	chr6	32944141	32944141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcctcaacattccccAcccatcagtcatttcctctc	2	19	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:32944141A>G	uc003ocn.3	+	6	2426	c.725A>G	c.(724-726)CAC>CGC	p.H242R	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.H242R|BRD2_uc003ocp.3_Missense_Mutation_p.H122R|BRD2_uc010juh.2_Missense_Mutation_p.H242R	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	242					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AACATTCCCCACCCATCAGTC	0.567													G	32944141	A	G	32944141	3	3	189	1	0	0	0	0	1	0	0	0	1502	159	6	3	743	3	BRD2	6	32944141	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	311422	32944141	138170926	1740	99597											
RING1	6015	broad.mit.edu	37	chr6	33177562	33177562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcacagccctacggagcGggtaataggagagacatgtt	13	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:33177562G>A	uc003odk.2	+	3	432	c.238G>A	c.(238-240)GGG>AGG	p.G80R	RING1_uc011dqx.1_Missense_Mutation_p.G80R|RING1_uc003odl.2_Missense_Mutation_p.G51R	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	80	Necessary for transcriptional repression (By similarity).|RING-type.				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CCTACGGAGCGGGTAATAGGA	0.517													A	33177562	G	A	33177562	3	1	189	1	0	0	0	0	1	0	0	0	13374	1130	39	1	244	1	RING1	6	33177562	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	233421	33177562	137937505	1741	99598											
RGL2	5863	broad.mit.edu	37	chr6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C													gcggatgaggtcagcgctgcINScccccccaacacccttccct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	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						GGTCAGCGCTGCCCCCCCCAAC	0.653													C	33263966	-	C	33263965	7	5	189	1	0	1	1	0	0	0	0	0	13277	739	26	0	1777	0	RGL2	6	33263965	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	86403	33263965	137851102	1742	99599											
TAPBP	6892	broad.mit.edu	37	chr6	33281604	33281604	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctccacgaaccaacactcGatcaccgcgggtcctgctga	8	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:33281604G>A	uc003odx.1	-	2	246	c.75C>T	c.(73-75)ATC>ATT	p.I25I	TAPBP_uc010jus.1_Silent_p.I25I|TAPBP_uc003ody.2_Silent_p.I25I|TAPBP_uc003odz.2_Silent_p.I25I|TAPBP_uc010jut.1_Silent_p.I25I|TAPBP_uc011drc.1_Silent_p.I25I	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	25	Lumenal (Potential).				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			ovary(1)	1						ACCAACACTCGATCACCGCGG	0.687													A	33281604	G	A	33281604	2	1	189	1	0	0	0	0	0	0	0	1	15549	1048	37	1		1	TAPBP	6	33281604	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	17639	33281604	137833463	1743	99600											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411288	33411288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggctatagcaagagtgagGacctctcttccggggtcccc	12	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:33411288G>A	uc011dri.1	+	15	3154	c.2959G>A	c.(2959-2961)GAC>AAC	p.D987N	SYNGAP1_uc010juy.2_Missense_Mutation_p.D958N|SYNGAP1_uc010juz.2_Missense_Mutation_p.D699N	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	987					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CAAGAGTGAGGACCTCTCTTC	0.502													A	33411288	G	A	33411288	3	1	189	1	0	0	0	0	1	0	0	0	15444	1174	41	4	3017	4	SYNGAP1	6	33411288	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	129684	33411288	137703779	1744	99601											
ANKS1A	23294	broad.mit.edu	37	chr6	34937796	34937796	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccttctagggatgtggtCgaggttcttctgaggaacga	14	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:34937796C>T	uc003ojx.3	+	3	430	c.288C>T	c.(286-288)GTC>GTT	p.V96V	ANKS1A_uc011dss.1_Silent_p.V96V|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_RNA|ANKS1A_uc010jvr.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	96	ANK 1.					cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						GGGATGTGGTCGAGGTTCTTC	0.488													T	34937796	C	T	34937796	2	4	189	1	0	0	0	0	0	0	0	1	688	871	31	1		1	ANKS1A	6	34937796	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1526508	34937796	136177271	1745	99602											
SRPK1	6732	broad.mit.edu	37	chr6	35854499	35854499	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataggtttttaaaaggatAcgtgttccattaactcctga	7	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:35854499A>G	uc003olj.2	-	6	601	c.478_splice	c.e6+1	p.H160_splice	SRPK1_uc011dtg.1_Splice_Site_p.H144_splice|SRPK1_uc003olh.2_Splice_Site_p.H53_splice|SRPK1_uc003oli.2_Splice_Site_p.H53_splice	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1						cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						TTAAAAGGATACGTGTTCCAT	0.368													G	35854499	A	G	35854499	5	3	189	1	0	0	0	0	0	0	1	0	15158	405	14	3	1531	3	SRPK1	6	35854499	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	916703	35854499	135260568	1746	99603											
SLC26A8	116369	broad.mit.edu	37	chr6	35919034	35919034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttccttgacaaggcaaacAgcacggcgtcgtgaacgctg	11	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:35919034A>T	uc003olm.2	-	19	2489	c.2378T>A	c.(2377-2379)CTG>CAG	p.L793Q	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.L375Q|SLC26A8_uc003oln.2_Missense_Mutation_p.L793Q|SLC26A8_uc003oll.2_Missense_Mutation_p.L688Q	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	793	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				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			ovary(2)	2						CAAGGCAAACAGCACGGCGTC	0.488													T	35919034	A	T	35919034	3	4	189	1	0	0	0	0	1	0	0	0	14523	188	7	5	542	5	SLC26A8	6	35919034	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	64535	35919034	135196033	1747	99604											
SLC26A8	116369	broad.mit.edu	37	chr6	35930388	35930388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgctcagaataataccaGccagcacagcctgtggggaa	11	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:35930388G>A	uc003olm.2	-	12	1487	c.1376C>T	c.(1375-1377)GCT>GTT	p.A459V	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.A41V|SLC26A8_uc003oln.2_Missense_Mutation_p.A459V|SLC26A8_uc003oll.2_Missense_Mutation_p.A354V	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	459	Helical; (Potential).				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			ovary(2)	2						AATAATACCAGCCAGCACAGC	0.458													A	35930388	G	A	35930388	3	1	189	1	0	0	0	0	1	0	0	0	14523	971	34	2	1572	2	SLC26A8	6	35930388	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	11354	35930388	135184679	1748	99605											
PNPLA1	285848	broad.mit.edu	37	chr6	36274133	36274133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcatgtgaaggaaacCgtcagcaagccttatgtaac	10	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:36274133C>T	uc010jwf.2	+	7	1449	c.1449C>T	c.(1447-1449)ACC>ACT	p.T483T	PNPLA1_uc003olw.1_Silent_p.T388T|PNPLA1_uc010jwe.1_Silent_p.T397T	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	483					lipid catabolic process		hydrolase activity			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						TGAAGGAAACCGTCAGCAAGC	0.483													T	36274133	C	T	36274133	2	4	189	1	0	0	0	0	0	0	0	1	12164	639	23	1		1	PNPLA1	6	36274133	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	343745	36274133	134840934	1749	99606											
KCTD20	222658	broad.mit.edu	37	chr6	36452576	36452576	+	Frame_Shift_Del	DEL	A	A	-													gtgttaaaggaacggggcctAaaaaacattcgcattggaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:36452575_36452575TA>T	uc003ome.3	+	6	1332	c.941_941TA>T	c.(940-942)ctafs	p.L314fs	KCTD20_uc011dtn.2_Frame_Shift_Del_p.L68fs|KCTD20_uc010jwk.3_Frame_Shift_Del_p.L148fs|KCTD20_uc011dto.2_Frame_Shift_Del_p.L68fs|KCTD20_uc011dtm.2_Frame_Shift_Del_p.L169fs	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	314						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						GAACGGGGCCTAAAAAACATT	0.338													-	36452576	A	-	36452576	7	5	189	1	0	1	0	1	0	0	0	0	8108	349	13	0	964	0	KCTD20	6	36452576	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	178443	36452576	134662491	1750	99607											
STK38	11329	broad.mit.edu	37	chr6	36463593	36463593	+	Frame_Shift_Del	DEL	C	C	-													tttcatgtaggaaggtattgCcccccttgcagtcaggccct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:36463592_36463592GC>G	uc003omg.3	-	12	1955	c.1367_1367GC>C	c.(1366-1368)gcafs	p.A456fs	STK38_uc003omh.3_Frame_Shift_Del_p.A456fs|STK38_uc003omi.3_Frame_Shift_Del_p.A456fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	456					intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAGGTATTGCCCCCCTTGC	0.458													-	36463593	C	-	36463593	7	5	189	1	0	1	0	1	0	0	0	0	15302	739	26	0	35	0	STK38	6	36463593	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	11017	36463593	134651474	1751	99608											
FGD2	221472	broad.mit.edu	37	chr6	36993651	36993651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtctgcctccactgctaCgcattcctcactggaaatgt	8	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:36993651C>T	uc010jwp.1	+	14	1713	c.1542C>T	c.(1540-1542)TAC>TAT	p.Y514Y	FGD2_uc003ong.2_Silent_p.Y236Y|FGD2_uc011dtv.1_Silent_p.Y142Y|FGD2_uc003onj.1_Silent_p.Y91Y	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	514	FYVE-type.				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			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						TCCACTGCTACGCATTCCTCA	0.612													T	36993651	C	T	36993651	2	4	189	1	0	0	0	0	0	0	0	1	5833	547	19	1		1	FGD2	6	36993651	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	530058	36993651	134121416	1752	99609											
TBC1D22B	55633	broad.mit.edu	37	chr6	37298880	37298880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaacgaagaaattgggCtgcttctcgccgaggcatac	14	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:37298880C>T	uc003onn.2	+	13	1596	c.1450C>T	c.(1450-1452)CTG>TTG	p.L484L	TBC1D22B_uc010jwt.2_RNA|TBC1D22B_uc003onp.2_Silent_p.L142L	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	484						intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGAAATTGGGCTGCTTCTCGC	0.517													T	37298880	C	T	37298880	2	4	189	1	0	0	0	0	0	0	0	1	15609	796	28	2		2	TBC1D22B	6	37298880	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	305229	37298880	133816187	1753	99610											
DNAH8	1769	broad.mit.edu	37	chr6	38723785	38723785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaaaatttgattaatgCcatcagaatgattcacggtg	7	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:38723785C>T	uc003ooe.1	+	8	1394	c.794C>T	c.(793-795)GCC>GTC	p.A265V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTGATTAATGCCATCAGAATG	0.328													T	38723785	C	T	38723785	3	4	189	1	0	0	0	0	1	0	0	0	4607	739	26	2	816	2	DNAH8	6	38723785	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1424905	38723785	132391282	1754	99611											
DNAH8	1769	broad.mit.edu	37	chr6	38738314	38738314	+	Frame_Shift_Del	DEL	T	T	-													atatttggaaaatttgaagcTttttgcaaaagactggagaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:38738313_38738313CT>C	uc021yzh.1	+	11	1851	c.1742_1742CT>C	c.(1741-1743)gctfs	p.A581fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.A364fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						AAATTTGAAGCTTTTTGCAAA	0.363													-	38738314	T	-	38738314	7	5	189	1	0	1	0	1	0	0	0	0	4607	1596	56	0	1122	0	DNAH8	6	38738314	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	14529	38738314	132376753	1755	99612											
DNAH8	1769	broad.mit.edu	37	chr6	38843564	38843564	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccagaaatacctaaaggCtcaaatcaaaccatgtatga	5	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:38843564C>A	uc003ooe.1	+	51	7767	c.7167C>A	c.(7165-7167)GGC>GGA	p.G2389G		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TACCTAAAGGCTCAAATCAAA	0.368													A	38843564	C	A	38843564	2	1	189	1	0	0	0	0	0	0	0	1	4607	784	28	5		5	DNAH8	6	38843564	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	105250	38843564	132271503	1756	99613											
DNAH8	1769	broad.mit.edu	37	chr6	38919215	38919215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggaagaaagtgataccCggacacctctgatatgcttc	10	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:38919215C>T	uc003ooe.1	+	80	12319	c.11719C>T	c.(11719-11721)CGG>TGG	p.R3907W	DNAH8_uc003oog.1_Missense_Mutation_p.R356W|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGTGATACCCGGACACCTCT	0.413													T	38919215	C	T	38919215	3	4	189	1	0	0	0	0	1	0	0	0	4607	643	23	1	12029	1	DNAH8	6	38919215	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	75651	38919215	132195852	1757	99614											
DNAH8	1769	broad.mit.edu	37	chr6	38998045	38998045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaagctgtatgtgtgTcctatttacaagaaacccag	8	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:38998045T>C	uc003ooe.1	+	91	13950	c.13350T>C	c.(13348-13350)TGT>TGC	p.C4450C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGTATGTGTGTCCTATTTACA	0.502													C	38998045	T	C	38998045	2	2	189	1	0	0	0	0	0	0	0	1	4607	1673	58	3		3	DNAH8	6	38998045	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	78830	38998045	132117022	1758	99615											
KCNK17	89822	broad.mit.edu	37	chr6	39267322	39267322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactctggctcccggtcagGtccctgtctccagctttggg	13	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:39267322G>A	uc003ooo.2	-	5	1020	c.880C>T	c.(880-882)CCT>TCT	p.P294S	KCNK17_uc003oop.2_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	294	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2						TCCCGGTCAGGTCCCTGTCTC	0.577													A	39267322	G	A	39267322	3	1	189	1	0	0	0	0	1	0	0	0	8064	1261	44	4	122	4	KCNK17	6	39267322	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	269277	39267322	131847745	1759	99616											
TREML2	79865	broad.mit.edu	37	chr6	41166037	41166039	+	In_Frame_Del	DEL	CTT	CTT	-													cgggcaaagccaggctcacaCttcttcttcctgattttgca					rs66965554		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:41166036_41166038ACTT>A	uc010jxm.1	-	1	364_366	c.185_187AAGT>T	c.(184-189)aagtgt>aTgt	p.62_63KC>M		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	62	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.P62T(1)|p.P62L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGCTCACACTTCTTCTTCCT	0.567													-	41166039	CTT	-	41166037	7	5	189	1	0	1	0	1	0	0	0	0	16470	564	20	0	795	0	TREML2	6	41166037	In_Frame_Del	DEL	CTT	TCGA-CG-5721-01A-11D-1600-08	1898715	41166037	129949030	1760	99617											
FRS3	10817	broad.mit.edu	37	chr6	41739249	41739249	+	Frame_Shift_Del	DEL	G	G	-													ggtggtcatcttcactggccGgtgtgttgacataggtgtgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:41739248_41739248CG>C	uc003orc.1	-	6	832	c.588_588CG>G	c.(586-588)ccgfs	p.P196fs		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	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)			CTTCACTGGCCGGTGTGTTGA	0.632													-	41739249	G	-	41739249	7	5	189	1	0	1	0	1	0	0	0	0	6062	1116	39	0	895	0	FRS3	6	41739249	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	573212	41739249	129375818	1761	99618											
MED20	9477	broad.mit.edu	37	chr6	41875024	41875024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacaggggccatactccAcctgggaaccaaaagcacag	9	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:41875024A>G	uc003ork.2	-	4	546	c.425T>C	c.(424-426)GTG>GCG	p.V142A	MED20_uc003orj.2_Missense_Mutation_p.V77A|MED20_uc011duh.1_Missense_Mutation_p.W117R|MED20_uc011dui.1_RNA|MED20_uc011duj.1_Missense_Mutation_p.V77A	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Trf (TATA binding protein-related	142					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding				0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCATACTCCACCTGGGAACC	0.562													G	41875024	A	G	41875024	3	3	189	1	0	0	0	0	1	0	0	0	9438	173	6	3	217	3	MED20	6	41875024	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	135775	41875024	129240043	1762	99619											
TRERF1	55809	broad.mit.edu	37	chr6	42196265	42196266	+	Frame_Shift_Ins	INS	-	-	C													aggggcagcagccccggcgcINSccccacgggccccgtagtcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:42196264_42196265G>GC	uc003ose.2	-	17	4044_4045	c.3481_3482C>GC	c.(3481-3483)gcgfs	p.A1161fs	TRERF1_uc011duq.1_Frame_Shift_Ins_p.A1058fs|TRERF1_uc003osb.2_Frame_Shift_Ins_p.A909fs|TRERF1_uc003osc.2_Frame_Shift_Ins_p.A897fs|TRERF1_uc003osd.2_Frame_Shift_Ins_p.A1141fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1141	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|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator 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)			CAGCCCCGGCGCCCCCACGGGC	0.609													C	42196266	-	C	42196265	7	5	189	1	0	1	1	0	0	0	0	0	16472	739	26	0	185	0	TRERF1	6	42196265	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	321241	42196265	128918802	1763	99620											
UBR2	23304	broad.mit.edu	37	chr6	42620271	42620271	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccattctgccctctgtttgCaagcctggttaacattttgc	7	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:42620271C>G	uc011dur.1	+	25	2657	c.2657C>G	c.(2656-2658)GCA>GGA	p.A886G	UBR2_uc011dus.1_Missense_Mutation_p.A531G|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	886					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	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)			CCTCTGTTTGCAAGCCTGGTT	0.433													G	42620271	C	G	42620271	3	3	189	1	0	0	0	0	1	0	0	0	16899	710	25	5	2901	5	UBR2	6	42620271	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	424006	42620271	128494796	1764	99621											
UBR2	23304	broad.mit.edu	37	chr6	42650804	42650804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattaaagttggtgccgtaAcagtgaagttaaaagatatc	9	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:42650804A>G	uc011dur.1	+	43	4730	c.4730A>G	c.(4729-4731)AAC>AGC	p.N1577S	UBR2_uc011dus.1_Missense_Mutation_p.N1222S|UBR2_uc003osh.2_RNA|UBR2_uc011dut.1_Missense_Mutation_p.N165S	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1577					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	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)			TGGTGCCGTAACAGTGAAGTT	0.373													G	42650804	A	G	42650804	3	3	189	1	0	0	0	0	1	0	0	0	16899	43	2	3	5046	3	UBR2	6	42650804	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	30533	42650804	128464263	1765	99622											
KIAA0240	23506	broad.mit.edu	37	chr6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-													ctgcagaaggaaacatttctAaaaaaacagaatgccttggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:42832626_42832626TA>T	uc003osn.1	+	12	2833	c.2682_2682TA>T	c.(2680-2682)tctfs	p.S894fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	894										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GAAACATTTCTAAAAAAACAG	0.493													-	42832627	A	-	42832627	7	5	189	1	0	1	0	1	0	0	0	0	8164	363	13	0	2725	0	KIAA0240	6	42832627	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	181823	42832627	128282440	1766	99623											
MRPL2	51069	broad.mit.edu	37	chr6	43023745	43023745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccccttcccgagcagcaActaaaagacaggatttcatt	6	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:43023745A>G	uc003ots.1	-	5	644	c.521T>C	c.(520-522)GTT>GCT	p.V174A	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Silent_p.S198S	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	174					translation	mitochondrion|ribosome	structural constituent of ribosome				0		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)		CCGAGCAGCAACTAAAAGACA	0.542													G	43023745	A	G	43023745	3	3	189	1	0	0	0	0	1	0	0	0	9785	57	2	3	408	3	MRPL2	6	43023745	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	191118	43023745	128091322	1767	99624											
MRPL2	51069	broad.mit.edu	37	chr6	43025842	43025842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcctcatcttcactgGtgtaatggtgtacttggtac	9	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:43025842G>A	uc003ots.1	-	2	349	c.226C>T	c.(226-228)CCA>TCA	p.P76S	KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Missense_Mutation_p.P76S|MRPL2_uc010jyi.2_3'UTR|MRPL2_uc003ott.3_Missense_Mutation_p.P76S|KLC4_uc011dvd.1_5'Flank|KLC4_uc003otu.2_5'Flank|KLC4_uc003otv.1_5'Flank|KLC4_uc003otw.1_5'Flank|KLC4_uc003otx.1_5'Flank|KLC4_uc003oty.1_5'Flank|KLC4_uc003otz.1_5'Flank	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	76					translation	mitochondrion|ribosome	structural constituent of ribosome				0		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)		ATCTTCACTGGTGTAATGGTG	0.507													A	43025842	G	A	43025842	3	1	189	1	0	0	0	0	1	0	0	0	9785	1261	44	4	715	4	MRPL2	6	43025842	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2097	43025842	128089225	1768	99625											
TTBK1	84630	broad.mit.edu	37	chr6	43226884	43226884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcacccccaattctgccCgggaggccctctgaggggct	12	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:43226884C>T	uc003ouq.1	+	11	1404	c.1125C>T	c.(1123-1125)CCC>CCT	p.P375P		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	375						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CAATTCTGCCCGGGAGGCCCT	0.647													T	43226884	C	T	43226884	2	4	189	1	0	0	0	0	0	0	0	1	16673	639	23	1		1	TTBK1	6	43226884	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	201042	43226884	127888183	1769	99626											
ZNF318	24149	broad.mit.edu	37	chr6	43306959	43306959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattggccaatggaccacCacttagcttagtctcagggg	10	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:43306959C>T	uc003oux.2	-	10	4855	c.4777G>A	c.(4777-4779)GGT>AGT	p.G1593S	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1593					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AATGGACCACCACTTAGCTTA	0.493													T	43306959	C	T	43306959	3	4	189	1	0	0	0	0	1	0	0	0	17833	594	21	4	2066	4	ZNF318	6	43306959	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	80075	43306959	127808108	1770	99627											
ZNF318	24149	broad.mit.edu	37	chr6	43308192	43308192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagccaagccagcttggcGgtccagattccgccgctcct	10	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:43308192G>A	uc003oux.2	-	10	3622	c.3544C>T	c.(3544-3546)CGC>TGC	p.R1182C	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1182					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCAGCTTGGCGGTCCAGATTC	0.443													A	43308192	G	A	43308192	3	1	189	1	0	0	0	0	1	0	0	0	17833	1116	39	1	3299	1	ZNF318	6	43308192	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1233	43308192	127806875	1771	99628											
TMEM63B	55362	broad.mit.edu	37	chr6	44116270	44116270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaaggacttcaacgTgtgtaaatgccagggctgca	11	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:44116270T>C	uc003owr.2	+	14	1206	c.1142T>C	c.(1141-1143)GTG>GCG	p.V381A	TMEM63B_uc003owq.1_Missense_Mutation_p.V381A|TMEM63B_uc003ows.2_Missense_Mutation_p.V284A|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	381						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	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)			GACTTCAACGTGTGTAAATGC	0.612													C	44116270	T	C	44116270	3	2	189	1	0	0	0	0	1	0	0	0	16188	1696	59	3	1192	3	TMEM63B	6	44116270	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	808078	44116270	126998797	1772	99629											
TCTE1	202500	broad.mit.edu	37	chr6	44250298	44250298	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggtcagcttgaagatcTgtgggcaggcagagggtcta	16	7	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:44250298T>C	uc003oxi.2	-	4	1003	c.847_splice	c.e4-1	p.I283_splice	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1											ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTGAAGATCTGTGGGCAGGC	0.552													C	44250298	T	C	44250298	5	2	189	1	0	0	0	0	0	0	1	0	15714	1594	55	3	668	3	TCTE1	6	44250298	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	134028	44250298	126864769	1773	99630											
TCTE1	202500	broad.mit.edu	37	chr6	44253990	44253990	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaccctgcgcacgtaaTtccggcagagcggcagcagg	15	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:44253990T>A	uc003oxi.2	-	3	713	c.557A>T	c.(556-558)AAT>ATT	p.N186I	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	186										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCGCACGTAATTCCGGCAGAG	0.652													A	44253990	T	A	44253990	3	1	189	1	0	0	0	0	1	0	0	0	15714	1493	52	5	960	5	TCTE1	6	44253990	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3692	44253990	126861077	1774	99631											
CYP39A1	51302	broad.mit.edu	37	chr6	46607340	46607340	+	Frame_Shift_Del	DEL	T	T	-													atggagattgacagtccccaTtttccctttcaacataatat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:46607339_46607339AT>A	uc003oyf.1	-	2	584	c.380_380AT>T	c.(379-381)atgfs	p.M127fs	CYP39A1_uc011dwa.1_Frame_Shift_Del_p.M107fs|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	127					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						GACAGTCCCCATTTTCCCTTT	0.363													-	46607340	T	-	46607340	7	5	189	1	0	1	0	1	0	0	0	0	4177	1493	52	0	1070	0	CYP39A1	6	46607340	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2353350	46607340	124507727	1775	99632											
GPR116	221395	broad.mit.edu	37	chr6	46826170	46826170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacagacattcttcctcGtatagacttcccggggctgg	10	13	1	2	rs141322343	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:46826170G>A	uc003oyo.3	-	17	3759	c.3470C>T	c.(3469-3471)ACG>ATG	p.T1157M	GPR116_uc011dwj.1_Missense_Mutation_p.T712M|GPR116_uc011dwk.1_Missense_Mutation_p.T586M|GPR116_uc003oyp.3_Missense_Mutation_p.T1015M|GPR116_uc003oyq.3_Missense_Mutation_p.T1157M|GPR116_uc010jzi.1_Missense_Mutation_p.T829M	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1157	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			ATTCTTCCTCGTATAGACTTC	0.557													A	46826170	G	A	46826170	3	1	189	1	0	0	0	0	1	0	0	0	6633	1145	40	1	590	1	GPR116	6	46826170	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	218830	46826170	124288897	1776	99633											
GPR115	221393	broad.mit.edu	37	chr6	47682298	47682298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggagatatcatacatgcgTcacgtgtgcatcgtgaatat	10	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:47682298T>C	uc003oza.1	+	6	1575	c.1317T>C	c.(1315-1317)CGT>CGC	p.R439R	GPR115_uc003oyz.1_Silent_p.R496R|GPR115_uc003ozb.1_Silent_p.R437R	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	439	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						CATACATGCGTCACGTGTGCA	0.483													C	47682298	T	C	47682298	2	2	189	1	0	0	0	0	0	0	0	1	6632	1654	58	3		3	GPR115	6	47682298	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	856128	47682298	123432769	1777	99634											
CENPQ	55166	broad.mit.edu	37	chr6	49438702	49438703	+	Frame_Shift_Ins	INS	-	-	A													ctaggttagaaacacagtgaINSaaaaaaataaaaatcatctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:49438701_49438702G>GA	uc003ozh.1	+	2	206_207	c.117_118G>GA	c.(115-120)gtgaaafs	p.V39fs		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	Homo sapiens centromere protein Q (CENPQ), mRNA.	39					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)					GAAACACAGTGAAAAAAAATAA	0.292													A	49438703	-	A	49438702	7	5	189	1	0	1	1	0	0	0	0	0	3241	247	9	0	124	0	CENPQ	6	49438702	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	1756404	49438702	121676365	1778	99635											
RHAG	6005	broad.mit.edu	37	chr6	49574880	49574880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtcatcagacctccaAcaactgctgttccgatagag	8	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:49574880A>G	uc003ozk.3	-	8	1183	c.1121T>C	c.(1120-1122)GTT>GCT	p.V374A	RHAG_uc010jzl.2_Missense_Mutation_p.V374A|RHAG_uc010jzm.2_Silent_p.C333C	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	374	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)					CAGACCTCCAACAACTGCTGT	0.423													G	49574880	A	G	49574880	3	3	189	1	0	0	0	0	1	0	0	0	13315	43	2	3	120	3	RHAG	6	49574880	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	136178	49574880	121540187	1779	99636											
PGK2	5232	broad.mit.edu	37	chr6	49753787	49753787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagcagtgtctccaccccCtataacagtgatgcagccct	8	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:49753787C>T	uc003ozu.2	-	1	1221	c.1114G>A	c.(1114-1116)GGG>AGG	p.G372R		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	372					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					TCTCCACCCCCTATAACAGTG	0.502													T	49753787	C	T	49753787	3	4	189	1	0	0	0	0	1	0	0	0	11791	681	24	4	143	4	PGK2	6	49753787	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	178907	49753787	121361280	1780	99637											
TFAP2D	83741	broad.mit.edu	37	chr6	50681777	50681777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacccaacatgtcaacTacctttccgggactagtcca	7	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:50681777T>C	uc003paf.2	+	1	521	c.9T>C	c.(7-9)ACT>ACC	p.T3T	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	3							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					ACATGTCAACTACCTTTCCGG	0.333													C	50681777	T	C	50681777	2	2	189	1	0	0	0	0	0	0	0	1	15787	1509	53	3		3	TFAP2D	6	50681777	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	927990	50681777	120433290	1781	99638											
EFHC1	114327	broad.mit.edu	37	chr6	52334208	52334208	+	Frame_Shift_Del	DEL	A	A	-													gctctcattccaaaagctccAaaaaaagacgttattaaaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:52334207_52334207CA>C	uc003pap.4	+	6	1429	c.1214_1214CA>C	c.(1213-1215)ccafs	p.P405fs	EFHC1_uc011dwv.1_Frame_Shift_Del_p.P314fs|EFHC1_uc011dww.2_Frame_Shift_Del_p.P386fs	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	405						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)					CCAAAAGCTCCAAAAAAAGAC	0.373													-	52334208	A	-	52334208	7	5	189	1	0	1	0	1	0	0	0	0	4946	117	5	0	1251	0	EFHC1	6	52334208	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1652431	52334208	118780859	1782	99639											
GSTA2	2939	broad.mit.edu	37	chr6	52616455	52616456	+	Frame_Shift_Ins	INS	-	-	C													tccaccaggtgaatgtcagcINSccggctcagcttgttgccaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:52616454_52616455G>GC	uc003pay.3	-	5	616_617	c.466_467C>GC	c.(466-468)gctfs	p.A156fs		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	156	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.R155L(1)		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)	GTGAATGTCAGCCCGGCTCAGC	0.52													C	52616456	-	C	52616455	7	5	189	1	0	1	1	0	0	0	0	0	6831	739	26	0	210	0	GSTA2	6	52616455	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	282247	52616455	118498612	1783	99640											
C6orf142	90523	broad.mit.edu	37	chr6	54025582	54025582	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaagacattgttgggTtctgacacagtcaaagtatg	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:54025582T>C	uc003pcg.3	+	7	992	c.879T>C	c.(877-879)GGT>GGC	p.G293G	C6orf142_uc003pcf.2_Silent_p.G817G|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.G828G	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	293						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CATTGTTGGGTTCTGACACAG	0.199													C	54025582	T	C	54025582	2	2	189	1	0	0	0	0	0	0	0	1	2333	1712	60	3		3	C6orf142	6	54025582	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1409127	54025582	117089485	1784	99641											
FAM83B	222584	broad.mit.edu	37	chr6	54805207	54805207	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccgctttttgcaacaaCgaatgccaacccttgaacat	5	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:54805207C>T	uc003pck.2	+	5	1554	c.1438C>T	c.(1438-1440)CGA>TGA	p.R480*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	480										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTGCAACAACGAATGCCAAC	0.413													T	54805207	C	T	54805207	4	4	189	1	0	0	0	0	0	1	0	0	5634	528	19	1	1452	1	FAM83B	6	54805207	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	779625	54805207	116309860	1785	99642											
FAM83B	222584	broad.mit.edu	37	chr6	54806569	54806569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaactgatcggcgtgttTacagtcgttttgagccgttt	10	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:54806569T>C	uc003pck.2	+	5	2916	c.2800T>C	c.(2800-2802)TAC>CAC	p.Y934H		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	934										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					TCGGCGTGTTTACAGTCGTTT	0.438													C	54806569	T	C	54806569	3	2	189	1	0	0	0	0	1	0	0	0	5634	1754	61	3	2814	3	FAM83B	6	54806569	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1362	54806569	116308498	1786	99643											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039412	+	Frame_Shift_Ins	INS	-	-	C													ggcaccaaattggaggactcINSccccccttgtcgcaactggt					rs76774128		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:55039410_55039411T>TC	uc003pcl.3	+	0	340_341	c.25_26T>TC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		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)			ATTGGAGGACTCCCCCCCTTGT	0.564													C	55039412	-	C	55039411	7	5	189	1	0	1	1	0	0	0	0	0	7002	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	232842	55039411	116075656	1787	99644											
GFRAL	389400	broad.mit.edu	37	chr6	55264054	55264054	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaatcactttaactggAtttcattcccccttcaatgg	4	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:55264054A>T	uc003pcm.1	+	7	1115	c.1029A>T	c.(1027-1029)GGA>GGT	p.G343G		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	343	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTTAACTGGATTTCATTCCC	0.289													T	55264054	A	T	55264054	2	4	189	1	0	0	0	0	0	0	0	1	6351	320	12	5		5	GFRAL	6	55264054	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	224643	55264054	115851013	1788	99645											
HMGCLL1	54511	broad.mit.edu	37	chr6	55441964	55441964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtttgttagaagagaaGtctaggaagataaagttcaa	12	2	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:55441964G>A	uc003pcn.2	-	2	269	c.110C>T	c.(109-111)ACT>ATT	p.T37I	HMGCLL1_uc003pco.2_Intron|HMGCLL1_uc010jzx.2_Intron|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	37							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			tagaagagaagtctaggaaga	0.04													A	55441964	G	A	55441964	3	1	189	1	0	0	0	0	1	0	0	0	7230	1043	36	4	1038	4	HMGCLL1	6	55441964	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	177910	55441964	115673103	1789	99646											
BMP5	653	broad.mit.edu	37	chr6	55684535	55684535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgctccggtccttgtAtatccggaattcagctgctg	11	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:55684535A>G	uc003pcq.2	-	2	1313	c.601T>C	c.(601-603)TAC>CAC	p.Y201H	BMP5_uc011dxf.1_Missense_Mutation_p.Y201H	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	201					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CGGTCCTTGTATATCCGGAAT	0.358													G	55684535	A	G	55684535	3	3	189	1	0	0	0	0	1	0	0	0	1463	449	16	3	787	3	BMP5	6	55684535	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	242571	55684535	115430532	1790	99647											
DST	667	broad.mit.edu	37	chr6	56510686	56510686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctacttctggacgaagggCcttctctctctctagcatgg	9	12	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:56510686C>T	uc003pdf.2	-	14	1685	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T	DST_uc003pcz.3_Missense_Mutation_p.A375T|DST_uc011dxj.1_Missense_Mutation_p.A404T|DST_uc011dxk.1_Missense_Mutation_p.A415T|DST_uc011dxl.1_Missense_Mutation_p.A404T|DST_uc003pcy.3_5'Flank|DST_uc003pdb.2_5'Flank|DST_uc003pdc.3_5'Flank|DST_uc003pdd.3_5'Flank|DST_uc003pde.2_Missense_Mutation_p.A491T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	375					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGACGAAGGGCCTTCTCTCTC	0.438													T	56510686	C	T	56510686	3	4	189	1	0	0	0	0	1	0	0	0	4783	754	26	2		2	DST	6	56510686	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	826151	56510686	114604381	1791	99648											
PRIM2	5558	broad.mit.edu	37	chr6	57512649	57512649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcctctttaaattccTctctggaaatggatatggaa	8	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:57512649T>C	uc003pdx.2	+	15	1564	c.1477T>C	c.(1477-1479)TCT>CCT	p.S493P		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	493					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	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAAATTCCTCTCTGGAAAT	0.398													C	57512649	T	C	57512649	3	2	189	1	0	0	0	0	1	0	0	0	12491	1551	54	3	1527	3	PRIM2	6	57512649	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1001963	57512649	113602418	1792	99649											
KHDRBS2	202559	broad.mit.edu	37	chr6	62688109	62688109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttccccactcttccttagTtcttcttcctgtgaaaaagg	6	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:62688109T>C	uc003peg.2	-	4	592	c.345A>G	c.(343-345)GAA>GAG	p.E115E		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	115	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCTTCCTTAGTTCTTCTTCCT	0.348													C	62688109	T	C	62688109	2	2	189	1	0	0	0	0	0	0	0	1	8147	1722	60	3		3	KHDRBS2	6	62688109	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5175460	62688109	108426958	1793	99650											
PHF3	23469	broad.mit.edu	37	chr6	64394219	64394219	+	Frame_Shift_Del	DEL	G	G	-													gtaccataaggagaatagaaGgtgcagccgaaatagcggac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:64394218_64394218AG>A	uc003pep.1	+	2	620	c.595_595AG>A	c.(595-597)aggfs	p.R199fs	PHF3_uc010kaf.1_Frame_Shift_Del_p.R199fs|PHF3_uc003pem.2_Frame_Shift_Del_p.R152fs|PHF3_uc010kag.1_Frame_Shift_Del_p.R111fs|PHF3_uc010kah.1_Frame_Shift_Del_p.R13fs|PHF3_uc003pen.2_Frame_Shift_Del_p.R111fs|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Del_p.R199fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	199					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)			GGAGAATAGAAGGTGCAGCCG	0.403													-	64394219	G	-	64394219	7	5	189	1	0	1	0	1	0	0	0	0	11836	1000	35	0	606	0	PHF3	6	64394219	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1706110	64394219	106720848	1794	99651											
PHF3	23469	broad.mit.edu	37	chr6	64408425	64408425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcttttctctttttttcGggacacagatgctaaatata	7	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:64408425G>A	uc003pep.1	+	7	2938	c.2912G>A	c.(2911-2913)CGG>CAG	p.R971Q	PHF3_uc010kah.1_Missense_Mutation_p.R785Q|PHF3_uc003pen.2_Missense_Mutation_p.R883Q|PHF3_uc011dxs.1_Missense_Mutation_p.R240Q	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	971	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			TCTTTTTTTCGGGACACAGAT	0.308													A	64408425	G	A	64408425	3	1	189	1	0	0	0	0	1	0	0	0	11836	1116	39	1	2938	1	PHF3	6	64408425	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	14206	64408425	106706642	1795	99652											
LMBRD1	55788	broad.mit.edu	37	chr6	70490403	70490403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactatagtaaccgtataatAcagtgtcctcaatctgtctg	6	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:70490403A>G	uc003pfa.2	-	3	405	c.290T>C	c.(289-291)GTA>GCA	p.V97A	LMBRD1_uc003pez.2_Missense_Mutation_p.V24A|LMBRD1_uc010kal.2_Missense_Mutation_p.V24A|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	97	Extracellular (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						ACCGTATAATACAGTGTCCTC	0.289													G	70490403	A	G	70490403	3	3	189	1	0	0	0	0	1	0	0	0	8842	391	14	3	1388	3	LMBRD1	6	70490403	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6081978	70490403	100624664	1796	99653											
COL19A1	1310	broad.mit.edu	37	chr6	70831829	70831829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggatattataacaaggatAacaaggtatggcttcttttt	9	4	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:70831829A>G	uc003pfc.1	+	17	1453	c.1336A>G	c.(1336-1338)AAC>GAC	p.N446D	COL19A1_uc010kam.1_Missense_Mutation_p.N342D	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	446					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TAACAAGGATAACAAGGTATG	0.279													G	70831829	A	G	70831829	3	3	189	1	0	0	0	0	1	0	0	0	3676	362	13	3	1398	3	COL19A1	6	70831829	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	341426	70831829	100283238	1797	99654											
COL19A1	1310	broad.mit.edu	37	chr6	70909413	70909413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaaggatgggttgcctGggccaccaggagaccctgga	17	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:70909413G>A	uc003pfc.1	+	49	3313	c.3196G>A	c.(3196-3198)GGG>AGG	p.G1066R		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1066	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TGGGTTGCCTGGGCCACCAGG	0.488													A	70909413	G	A	70909413	3	1	189	1	0	0	0	0	1	0	0	0	3676	1348	47	4	3386	4	COL19A1	6	70909413	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	77584	70909413	100205654	1798	99655											
COL9A1	1297	broad.mit.edu	37	chr6	70984464	70984464	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggggatccatcaggTcctgttaatccctaatagag	11	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:70984464T>C	uc003pfg.3	-	11	1146	c.987A>G	c.(985-987)GGA>GGG	p.G329G	COL9A1_uc003pfe.3_5'UTR|COL9A1_uc003pff.3_Silent_p.G86G	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	329	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						ATCCATCAGGTCCTGTTAATC	0.348													C	70984464	T	C	70984464	2	2	189	1	0	0	0	0	0	0	0	1	3707	1654	58	3		3	COL9A1	6	70984464	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	75051	70984464	100130603	1799	99656											
RIMS1	22999	broad.mit.edu	37	chr6	72806716	72806716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataggggaagaagcgcggCgttaccagggcgagcacaaa	15	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:72806716C>T	uc003pga.2	+	3	387	c.310C>T	c.(310-312)CGT>TGT	p.R104C		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	104	RabBD.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAAGCGCGGCGTTACCAGGG	0.448													T	72806716	C	T	72806716	3	4	189	1	0	0	0	0	1	0	0	0	13367	768	27	1	320	1	RIMS1	6	72806716	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1822252	72806716	98308351	1800	99657											
EEF1A1	1915	broad.mit.edu	37	chr6	74227952	74227952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaatacaggggcatagccGgcgcttatttggcctggatg	13	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:74227952G>A	uc003phi.2	-	6	1102	c.1065C>T	c.(1063-1065)GCC>GCT	p.A355A	EEF1A1_uc003phd.2_Silent_p.A80A|EEF1A1_uc003phe.2_Silent_p.A345A|EEF1A1_uc003phf.2_Silent_p.A348A|EEF1A1_uc003phg.2_Intron|EEF1A1_uc003phh.2_Silent_p.A201A|EEF1A1_uc003phj.2_Silent_p.A355A|EEF1A1_uc003phk.2_Silent_p.A355A|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	355						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						GGGCATAGCCGGCGCTTATTT	0.448													A	74227952	G	A	74227952	2	1	189	1	0	0	0	0	0	0	0	1	4923	1103	39	1		1	EEF1A1	6	74227952	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1421236	74227952	96887115	1801	99658											
SLC17A5	26503	broad.mit.edu	37	chr6	74348179	74348179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctttcaagagggggaGcccaagaagaccacatggca	12	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:74348179G>A	uc003phn.3	-	4	697	c.569C>T	c.(568-570)GCT>GTT	p.A190V	SLC17A5_uc010kax.2_5'Flank|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Intron	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	190					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						AAGAGGGGGAGCCCAAGAAGA	0.373													A	74348179	G	A	74348179	3	1	189	1	0	0	0	0	1	0	0	0	14420	971	34	2	950	2	SLC17A5	6	74348179	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	120227	74348179	96766888	1802	99659											
CD109	135228	broad.mit.edu	37	chr6	74512960	74512960	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggttaccagagagaacttCtctatcagagggaagatggc	12	7	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:74512960C>T	uc003php.2	+	24	3321	c.2896C>T	c.(2896-2898)CTC>TTC	p.L966F	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.L966F|CD109_uc010kba.2_Missense_Mutation_p.L889F	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	966						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GAGAGAACTTCTCTATCAGAG	0.383													T	74512960	C	T	74512960	3	4	189	1	0	0	0	0	1	0	0	0	2963	913	32	4	2990	4	CD109	6	74512960	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	164781	74512960	96602107	1803	99660											
CD109	135228	broad.mit.edu	37	chr6	74516797	74516797	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatatagaaagtatcaggTatttcgtatttaatttaata	8	2	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:74516797T>C	uc003php.2	+	25	3614	c.3189_splice	c.e25+2	p.Q1063_splice	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Splice_Site_p.Q1063_splice|CD109_uc010kba.2_Splice_Site_p.Q986_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AAGTATCAGGTATTTCGTATT	0.353													C	74516797	T	C	74516797	5	2	189	1	0	0	0	0	0	0	1	0	2963	1652	57	3	3289	3	CD109	6	74516797	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3837	74516797	96598270	1804	99661											
COL12A1	1303	broad.mit.edu	37	chr6	75848672	75848672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtttgttggggctggcaCgggtcctatcatgagaaaag	14	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:75848672C>T	uc003phs.2	-	28	5129	c.4963G>A	c.(4963-4965)GTG>ATG	p.V1655M	COL12A1_uc003pht.2_Missense_Mutation_p.V491M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1655	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGGGCTGGCACGGGTCCTATC	0.388													T	75848672	C	T	75848672	3	4	189	1	0	0	0	0	1	0	0	0	3669	536	19	1	4384	1	COL12A1	6	75848672	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1331875	75848672	95266395	1805	99662											
COL12A1	1303	broad.mit.edu	37	chr6	75875301	75875301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgaaattctgtatttggTctctggctgcagattttcta	8	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:75875301T>C	uc003phs.2	-	14	3071	c.2905A>G	c.(2905-2907)ACC>GCC	p.T969A	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	969	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTGTATTTGGTCTCTGGCTGC	0.413													C	75875301	T	C	75875301	3	2	189	1	0	0	0	0	1	0	0	0	3669	1667	58	3	6498	3	COL12A1	6	75875301	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	26629	75875301	95239766	1806	99663											
FILIP1	27145	broad.mit.edu	37	chr6	76023993	76023993	+	Frame_Shift_Del	DEL	T	T	-													ttttctctcttcttgttttaTtttttccatcatatttttcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:76023992_76023992AT>A	uc010kbe.3	-	5	2095	c.1565_1565AT>T	c.(1564-1566)atafs	p.I522fs	FILIP1_uc003phy.1_Frame_Shift_Del_p.I519fs|FILIP1_uc003phz.3_Frame_Shift_Del_p.I420fs|FILIP1_uc003pia.3_Frame_Shift_Del_p.I519fs|FILIP1_uc003pib.1_Frame_Shift_Del_p.I271fs	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	519								p.Q521H(1)		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						TTCTTGTTTTATTTTTTCCAT	0.318													-	76023993	T	-	76023993	7	5	189	1	0	1	0	1	0	0	0	0	5894	1493	52	0	2094	0	FILIP1	6	76023993	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	148692	76023993	95091074	1807	99664											
SENP6	26054	broad.mit.edu	37	chr6	76369099	76369100	+	Frame_Shift_Ins	INS	-	-	A													ctcctctatctcctgcttcaINSaaaaaatgtttaacccattt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:76369098_76369099C>CA	uc003pid.4	+	7	1290_1291	c.671_672C>CA	c.(670-672)tcafs	p.S224fs	SENP6_uc003pie.4_Frame_Shift_Ins_p.S217fs|SENP6_uc003pic.2_Frame_Shift_Ins_p.S217fs|SENP6_uc003pif.1_Frame_Shift_Ins_p.S115fs	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	224					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)				TCTCCTGCTTCAAAAAAATGTT	0.347													A	76369100	-	A	76369099	7	5	189	1	0	1	1	0	0	0	0	0	14050	117	5	0	702	0	SENP6	6	76369099	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	345106	76369099	94745968	1808	99665											
IRAK1BP1	134728	broad.mit.edu	37	chr6	79577355	79577355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggttccctgggctgaccGgagccgggagaacaacctgg	15	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:79577355G>A	uc003pim.2	+	1	167	c.62G>A	c.(61-63)CGG>CAG	p.R21Q	IRAK1BP1_uc010kbg.1_RNA	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	21	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		TGGGCTGACCGGAGCCGGGAG	0.607													A	79577355	G	A	79577355	3	1	189	1	0	0	0	0	1	0	0	0	7822	1116	39	1	64	1	IRAK1BP1	6	79577355	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3208256	79577355	91537712	1809	99666											
PHIP	55023	broad.mit.edu	37	chr6	79724917	79724917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggttcaagaacaaatAcctcatcttcatgaccctga	8	10	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:79724917A>G	uc003pir.2	-	15	1632	c.1406T>C	c.(1405-1407)GTA>GCA	p.V469A	PHIP_uc011dyp.1_Missense_Mutation_p.V469A	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	469	WD 7.		V -> I (in a colorectal cancer sample; somatic mutation).		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	p.V469I(1)		large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		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)		AAGAACAAATACCTCATCTTC	0.358													G	79724917	A	G	79724917	3	3	189	1	0	0	0	0	1	0	0	0	11842	391	14	3	4163	3	PHIP	6	79724917	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	147562	79724917	91390150	1810	99667											
TTK	7272	broad.mit.edu	37	chr6	80749999	80749999	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaattcaaactcatccaggTactacttctttaaaaatttg	3	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:80749999T>C	uc003pjc.2	+	20	2466	c.2392_splice	c.e20+2	p.V798_splice	TTK_uc003pjb.3_Splice_Site_p.V797_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK 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			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		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)		CTCATCCAGGTACTACTTCTT	0.328													C	80749999	T	C	80749999	5	2	189	1	0	0	0	0	0	0	1	0	16717	1652	57	3	2468	3	TTK	6	80749999	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1025082	80749999	90365068	1811	99668											
DOPEY1	23033	broad.mit.edu	37	chr6	83819867	83819867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgttgttggaaaaggTtgctgctgctgtggaccagt	13	5	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:83819867T>C	uc003pjs.1	+	6	775	c.515T>C	c.(514-516)GTT>GCT	p.V172A	DOPEY1_uc011dyy.1_Missense_Mutation_p.V172A|DOPEY1_uc010kbl.1_Missense_Mutation_p.V172A	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	172					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		TTGGAAAAGGTTGCTGCTGCT	0.393													C	83819867	T	C	83819867	3	2	189	1	0	0	0	0	1	0	0	0	4707	1725	60	3	529	3	DOPEY1	6	83819867	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3069868	83819867	87295200	1812	99669											
PGM3	5238	broad.mit.edu	37	chr6	83891476	83891476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggtttctgatgacTtttcacaaagtcagctccac	9	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:83891476T>C	uc003pjv.2	-	6	806	c.766A>G	c.(766-768)AGT>GGT	p.S256G	PGM3_uc003pjw.2_Missense_Mutation_p.S175G|PGM3_uc011dyz.1_Missense_Mutation_p.S284G	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	256					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TTCTGATGACTTTTCACAAAG	0.408													C	83891476	T	C	83891476	3	2	189	1	0	0	0	0	1	0	0	0	11800	1609	56	3	894	3	PGM3	6	83891476	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	71609	83891476	87223591	1813	99670											
ME1	4199	broad.mit.edu	37	chr6	83933648	83933648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccactggcaaaaattgcaCgtccctacaacaaagacaca	6	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:83933648C>T	uc003pjy.2	-	12	1386	c.1280G>A	c.(1279-1281)CGT>CAT	p.R427H	ME1_uc011dzb.1_Missense_Mutation_p.R352H|ME1_uc011dzc.1_Missense_Mutation_p.R261H	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	427					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAAAATTGCACGTCCCTACAA	0.398													T	83933648	C	T	83933648	3	4	189	1	0	0	0	0	1	0	0	0	9417	536	19	1	450	1	ME1	6	83933648	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	42172	83933648	87181419	1814	99671											
PRSS35	167681	broad.mit.edu	37	chr6	84234379	84234379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctctggattcacgggaacGatgccaattgtgcttacggc	12	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:84234379G>A	uc003pjz.2	+	2	1382	c.1219G>A	c.(1219-1221)GAT>AAT	p.D407N	PRSS35_uc010kbm.2_Missense_Mutation_p.D407N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	407	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		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)		TCACGGGAACGATGCCAATTG	0.502													A	84234379	G	A	84234379	3	1	189	1	0	0	0	0	1	0	0	0	12624	1058	37	1	1221	1	PRSS35	6	84234379	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	300731	84234379	86880688	1815	99672											
SNX14	57231	broad.mit.edu	37	chr6	86281916	86281916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagccatggctggtagtttTcaagtagcaaagaaggccta	11	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:86281916T>C	uc003pkr.2	-	4	549	c.356A>G	c.(355-357)GAA>GGA	p.E119G	SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.E67G|SNX14_uc003pks.2_Missense_Mutation_p.E119G|SNX14_uc003pkt.2_Missense_Mutation_p.E119G	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	119					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		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)		CTGGTAGTTTTCAAGTAGCAA	0.294													C	86281916	T	C	86281916	3	2	189	1	0	0	0	0	1	0	0	0	14885	1783	62	3	2588	3	SNX14	6	86281916	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2047537	86281916	84833151	1816	99673											
ZNF292	23036	broad.mit.edu	37	chr6	87969203	87969203	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctttaaatgtgtagtaccTacatgtacaaaaacatttac	4	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:87969203T>A	uc003plm.3	+	8	5897	c.5856T>A	c.(5854-5856)CCT>CCA	p.P1952P		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1952	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		GTGTAGTACCTACATGTACAA	0.303													A	87969203	T	A	87969203	2	1	189	1	0	0	0	0	0	0	0	1	17823	1509	53	5		5	ZNF292	6	87969203	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1687287	87969203	83145864	1817	99674											
SLC35A1	10559	broad.mit.edu	37	chr6	88210879	88210879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctcttttttttaggtgAcctaccagttgaagattccg	7	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:88210879A>G	uc011dzj.1	+	4	437	c.358A>G	c.(358-360)ACC>GCC	p.T120A	SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_RNA|SLC35A1_uc011dzi.1_5'UTR|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Missense_Mutation_p.T120A|SLC35A1_uc010kby.2_RNA	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	120	Helical; (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		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;0.0429)		TTTTTAGGTGACCTACCAGTT	0.303													G	88210879	A	G	88210879	3	3	189	1	0	0	0	0	1	0	0	0	14570	275	10	3	372	3	SLC35A1	6	88210879	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	241676	88210879	82904188	1818	99675											
RARS2	57038	broad.mit.edu	37	chr6	88229955	88229955	+	Frame_Shift_Del	DEL	T	T	-													ggaatacttgctgaaaatgcTttttttgtcctttatctgtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:88229954_88229954CT>C	uc003pme.3	-	12	1116	c.1056_1056AG>G	c.(1054-1056)aagfs	p.K352fs	RARS2_uc003pmc.3_Frame_Shift_Del_p.K177fs|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	352					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|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)		GCTGAAAATGCTTTTTTTGTC	0.328													-	88229955	T	-	88229955	7	5	189	1	0	1	0	1	0	0	0	0	13059	1609	56	0	713	0	RARS2	6	88229955	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	19076	88229955	82885112	1819	99676											
CNR1	1268	broad.mit.edu	37	chr6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcagaatgcaaacaccGtcttaatgagcttgttcatc	7	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:88853864G>A	uc011dzq.1	-	2	4693	c.1130C>T	c.(1129-1131)ACG>ATG	p.T377M	CNR1_uc010kbz.2_Missense_Mutation_p.T377M|CNR1_uc011dzr.1_Missense_Mutation_p.T377M|CNR1_uc011dzs.1_Missense_Mutation_p.T377M|CNR1_uc003pmq.3_Missense_Mutation_p.T377M|CNR1_uc011dzt.1_Missense_Mutation_p.T377M|CNR1_uc010kca.2_Missense_Mutation_p.T344M	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	377	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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)	TGCAAACACCGTCTTAATGAG	0.522													A	88853864	G	A	88853864	3	1	189	1	0	0	0	0	1	0	0	0	3631	1145	40	1	292	1	CNR1	6	88853864	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	623909	88853864	82261203	1820	99677											
PNRC1	10957	broad.mit.edu	37	chr6	89790771	89790771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacccccgggcactgccccCgaccctcttcctccctcatt	7	22	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:89790771C>A	uc003pmv.2	+	1	343	c.158C>A	c.(157-159)CCG>CAG	p.P53Q	PNRC1_uc003pmu.2_Missense_Mutation_p.P53Q|PNRC1_uc003pmx.2_5'Flank	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		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)		GCACTGCCCCCGACCCTCTTC	0.692										Multiple Myeloma(7;0.094)			A	89790771	C	A	89790771	3	1	189	1	0	0	0	0	1	0	0	0	12174	652	23	5	160	5	PNRC1	6	89790771	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	936907	89790771	81324296	1821	99678											
BACH2	60468	broad.mit.edu	37	chr6	90661192	90661192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggtgtctgtgggcacGtcaggctcgggcagcagggc	17	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:90661192G>A	uc011eab.1	-	7	1442	c.633C>T	c.(631-633)GAC>GAT	p.D211D	BACH2_uc003pnw.2_Silent_p.D211D|BACH2_uc010kch.2_Silent_p.D211D	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	211						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		CTGTGGGCACGTCAGGCTCGG	0.557													A	90661192	G	A	90661192	2	1	189	1	0	0	0	0	0	0	0	1	1284	1136	40	1		1	BACH2	6	90661192	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	870421	90661192	80453875	1822	99679											
BACH2	60468	broad.mit.edu	37	chr6	90661316	90661316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtctctgaatccatcGtctcctcctcttcatcctcc	5	18	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:90661316G>A	uc011eab.1	-	7	1318	c.509C>T	c.(508-510)ACG>ATG	p.T170M	BACH2_uc003pnw.2_Missense_Mutation_p.T170M|BACH2_uc010kch.2_Missense_Mutation_p.T170M	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	170						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		TGAATCCATCGTCTCCTCCTC	0.607													A	90661316	G	A	90661316	3	1	189	1	0	0	0	0	1	0	0	0	1284	1145	40	1	2028	1	BACH2	6	90661316	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	124	90661316	80453751	1823	99680											
KIAA0776	23376	broad.mit.edu	37	chr6	96974251	96974251	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaattgcaagaaagtggTcaggtcaccatatcagaact	9	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:96974251T>C	uc003por.2	+	5	453	c.405T>C	c.(403-405)GGT>GGC	p.G135G	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	135	Required for E3 UFM1-protein ligase activity.|Involved in CDK5RAP3-binding.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		AAGAAAGTGGTCAGGTCACCA	0.323													C	96974251	T	C	96974251	2	2	189	1	0	0	0	0	0	0	0	1	8193	1654	58	3		3	KIAA0776	6	96974251	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6312935	96974251	74140816	1824	99681											
KLHL32	114792	broad.mit.edu	37	chr6	97562108	97562108	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagttgagcatgccagTggccggacgtgtgctgtgag	19	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:97562108T>C	uc010kcm.1	+	7	1549	c.1077T>C	c.(1075-1077)AGT>AGC	p.S359S	KLHL32_uc003poy.2_Silent_p.S359S|KLHL32_uc011ead.1_Silent_p.S323S|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.S290S|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	359	Kelch 2.									ovary(3)|skin(1)	4		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)		AGCATGCCAGTGGCCGGACGT	0.587													C	97562108	T	C	97562108	2	2	189	1	0	0	0	0	0	0	0	1	8386	1693	59	3		3	KLHL32	6	97562108	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	587857	97562108	73552959	1825	99682											
C6orf167	253714	broad.mit.edu	37	chr6	97679388	97679388	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaatacaaagaaaaatagtAtaactactgctggatttata	6	4	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:97679388A>T	uc003ppb.2	-	13	1709	c.1443T>A	c.(1441-1443)TAT>TAA	p.Y481*	C6orf167_uc011eaf.1_Nonsense_Mutation_p.Y441*|C6orf167_uc010kcn.1_Nonsense_Mutation_p.Y255*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	481					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		GAAAAATAGTATAACTACTGC	0.368													T	97679388	A	T	97679388	4	4	189	1	0	0	0	0	0	1	0	0	2342	456	16	5	2340	5	C6orf167	6	97679388	Nonsense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	117280	97679388	73435679	1826	99683											
C6orf167	253714	broad.mit.edu	37	chr6	97715821	97715821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgttcttcaaataggctgAtgttggttaaattgtcactt	8	5	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:97715821A>T	uc003ppb.2	-	8	1021	c.755T>A	c.(754-756)ATC>AAC	p.I252N	C6orf167_uc011eaf.1_Missense_Mutation_p.I252N|C6orf167_uc010kcn.1_Missense_Mutation_p.I26N|C6orf167_uc010kco.1_Missense_Mutation_p.I26N|C6orf167_uc003ppc.2_Missense_Mutation_p.I252N	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	252					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		AAATAGGCTGATGTTGGTTAA	0.308													T	97715821	A	T	97715821	3	4	189	1	0	0	0	0	1	0	0	0	2342	333	12	5	3048	5	C6orf167	6	97715821	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	36433	97715821	73399246	1827	99684											
POU3F2	5454	broad.mit.edu	37	chr6	99283815	99283815	+	Frame_Shift_Del	DEL	A	A	-													cagcgcaagggcgcaagcggAaaaagcggacctccatcgag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:99283814_99283814GA>G	uc003ppe.3	+	0	1235	c.1065_1065GA>G	c.(1063-1065)cggfs	p.R355fs		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	355					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	p.R355W(1)		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)		GGCGCAAGCGGAAAAAGCGGA	0.617													-	99283815	A	-	99283815	7	5	189	1	0	1	0	1	0	0	0	0	12275	247	9	0	1068	0	POU3F2	6	99283815	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1567994	99283815	71831252	1828	99685											
FBXL4	26235	broad.mit.edu	37	chr6	99328484	99328484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacagaagttcaaaatgCtgagcagtgctgtttgctgc	11	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:99328484C>T	uc003ppf.1	-	7	1692	c.1334G>A	c.(1333-1335)AGC>AAC	p.S445N	FBXL4_uc003ppg.1_Missense_Mutation_p.S445N|FBXL4_uc003pph.1_Missense_Mutation_p.S47N|FBXL4_uc010kcp.2_Intron	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	445	LRR 3.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				skin(2)	2		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)		GTTCAAAATGCTGAGCAGTGC	0.393													T	99328484	C	T	99328484	3	4	189	1	0	0	0	0	1	0	0	0	5721	797	28	2	543	2	FBXL4	6	99328484	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	44669	99328484	71786583	1829	99686											
COQ3	51805	broad.mit.edu	37	chr6	99828203	99828203	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgggaagtactgtacagtCtcgcccaagggtacctaaaa	10	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:99828203C>T	uc003ppk.2	-	3	275	c.248G>A	c.(247-249)AGA>AAA	p.R83K		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	83					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ACTGTACAGTCTCGCCCAAGG	0.423													T	99828203	C	T	99828203	3	4	189	1	0	0	0	0	1	0	0	0	3746	913	32	4	881	4	COQ3	6	99828203	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	499719	99828203	71286864	1830	99687											
SFRS18	25957	broad.mit.edu	37	chr6	99860536	99860536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggcatcattcctggtggTtgttctaccatgctttgctg	10	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:99860536T>C	uc003ppo.3	-	4	396	c.168A>G	c.(166-168)CAA>CAG	p.Q56Q	SFRS18_uc003ppp.3_Silent_p.Q56Q|SFRS18_uc011eag.1_Silent_p.Q56Q|SFRS18_uc003ppr.2_Silent_p.Q56Q|SFRS18_uc003ppt.2_Silent_p.Q56Q|SFRS18_uc003pps.2_Silent_p.Q56Q	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	56	Gln-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TTCCTGGTGGTTGTTCTACCA	0.438													C	99860536	T	C	99860536	2	2	189	1	0	0	0	0	0	0	0	1	14174	1722	60	3		3	SFRS18	6	99860536	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	32333	99860536	71254531	1831	99688											
USP45	85015	broad.mit.edu	37	chr6	99936572	99936572	+	Frame_Shift_Del	DEL	A	A	-													cttacctgcatgactgcattAaaaaagcaagtatttcctaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:99936571_99936571TA>T	uc003ppx.2	-	5	1137	c.604_604TA>A	c.(604-606)aatfs	p.N202fs	USP45_uc003ppw.2_5'UTR|USP45_uc010kcq.2_Frame_Shift_Del_p.N202fs|USP45_uc003pqa.3_Frame_Shift_Del_p.N202fs	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	202					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)		ATGACTGCATTAAAAAAGCAA	0.323													-	99936572	A	-	99936572	7	5	189	1	0	1	0	1	0	0	0	0	17073	359	13	0	1893	0	USP45	6	99936572	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	76036	99936572	71178495	1832	99689											
PRDM13	59336	broad.mit.edu	37	chr6	100062346	100062346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgcggcccttcggcgAccccagcaatctcaacaagc	9	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:100062346A>G	uc003pqg.1	+	4	2096	c.1835A>G	c.(1834-1836)GAC>GGC	p.D612G		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	612	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CCCTTCGGCGACCCCAGCAAT	0.622													G	100062346	A	G	100062346	3	3	189	1	0	0	0	0	1	0	0	0	12454	275	10	3	1849	3	PRDM13	6	100062346	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	125774	100062346	71052721	1833	99690											
ASCC3	10973	broad.mit.edu	37	chr6	101054919	101054919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcccgaaagcaagggTcagcttgaggttggaatctc	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:101054919T>C	uc003pqk.2	-	31	5160	c.4831A>G	c.(4831-4833)ACC>GCC	p.T1611A		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1611	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		AAAGCAAGGGTCAGCTTGAGG	0.368													C	101054919	T	C	101054919	3	2	189	1	0	0	0	0	1	0	0	0	1033	1667	58	3	1825	3	ASCC3	6	101054919	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	992573	101054919	70060148	1834	99691											
ASCC3	10973	broad.mit.edu	37	chr6	101296426	101296426	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaataattcgattagtAgcattacaagctgcagtggc	10	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:101296426A>G	uc003pqk.2	-	4	728	c.399T>C	c.(397-399)GCT>GCC	p.A133A	ASCC3_uc011eai.1_Silent_p.A35A|ASCC3_uc003pql.2_Silent_p.A133A|ASCC3_uc010kcv.2_Silent_p.A133A	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		TTCGATTAGTAGCATTACAAG	0.383													G	101296426	A	G	101296426	2	3	189	1	0	0	0	0	0	0	0	1	1033	407	15	3		3	ASCC3	6	101296426	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	241507	101296426	69818641	1835	99692											
PREP	5550	broad.mit.edu	37	chr6	105736713	105736713	+	Frame_Shift_Del	DEL	T	T	-													gagccatccaattttatgccTtttttatgcacaatgaacat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:105736712_105736712CT>C	uc003prc.3	-	10	1608	c.1375_1375AG>G	c.(1375-1377)ggcfs	p.G459fs		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	459				G -> S (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AATTTTATGCCTTTTTTATGC	0.398													-	105736713	T	-	105736713	7	5	189	1	0	1	0	1	0	0	0	0	12474	1606	56	0	778	0	PREP	6	105736713	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	4440287	105736713	65378354	1836	99693											
PREP	5550	broad.mit.edu	37	chr6	105781311	105781311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcttgaatgtgaacaccGtcccctcattggtcacgtag	9	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:105781311G>A	uc003prc.2	-	8	1096	c.893C>T	c.(892-894)ACG>ATG	p.T298M		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	298				T -> A (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TGTGAACACCGTCCCCTCATT	0.458													A	105781311	G	A	105781311	3	1	189	1	0	0	0	0	1	0	0	0	12474	1145	40	1	1271	1	PREP	6	105781311	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	44598	105781311	65333756	1837	99694											
RTN4IP1	84816	broad.mit.edu	37	chr6	107050772	107050772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagcaaaagtaccaactcCgcctgaagcgcctaagatta	7	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:107050772C>T	uc003prj.2	-	5	1123	c.646G>A	c.(646-648)GGA>AGA	p.G216R	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.G116R	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	216						mitochondrion	oxidoreductase activity|zinc ion binding				0	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)		GTACCAACTCCGCCTGAAGCG	0.294													T	107050772	C	T	107050772	3	4	189	1	0	0	0	0	1	0	0	0	13729	661	23	1	564	1	RTN4IP1	6	107050772	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1269461	107050772	64064295	1838	99695											
BEND3	57673	broad.mit.edu	37	chr6	107391162	107391162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggtggaggaggaagacGgcaaactcgcctggtgagga	18	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:107391162G>A	uc003prs.2	-	5	1883	c.1233C>T	c.(1231-1233)GCC>GCT	p.A411A		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	411	BEN 2.									ovary(3)	3						GGAGGAAGACGGCAAACTCGC	0.622													A	107391162	G	A	107391162	2	1	189	1	0	0	0	0	0	0	0	1	1399	1103	39	1		1	BEND3	6	107391162	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	340390	107391162	63723905	1839	99696											
BEND3	57673	broad.mit.edu	37	chr6	107420485	107420485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcggtgaattcagttgagTtcatcttctattccgctaaa	7	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:107420485T>C	uc003prs.2	-	3	655	c.5A>G	c.(4-6)AAC>AGC	p.N2S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	2										ovary(3)	3						TTCAGTTGAGTTCATCTTCTA	0.313													C	107420485	T	C	107420485	3	2	189	1	0	0	0	0	1	0	0	0	1399	1725	60	3	2493	3	BEND3	6	107420485	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	29323	107420485	63694582	1840	99697											
PDSS2	57107	broad.mit.edu	37	chr6	107780386	107780386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgaccacgccaagagcccAccgaggagatggtgtcgagg	14	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:107780386A>G	uc003prt.2	-	1	394	c.104T>C	c.(103-105)GTG>GCG	p.V35A	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.V35A|PDSS2_uc003pru.2_Missense_Mutation_p.V35A|PDSS2_uc003prv.2_Missense_Mutation_p.V35A	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	35					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	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)		CCAAGAGCCCACCGAGGAGAT	0.627											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	107780386	A	G	107780386	3	3	189	1	0	0	0	0	1	0	0	0	11694	159	6	3	1127	3	PDSS2	6	107780386	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	359901	107780386	63334681	1841	99698											
OSTM1	28962	broad.mit.edu	37	chr6	108385478	108385478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccattaagagacttctgGcacaactctgactctctgaa	7	12	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:108385478G>A	uc003psd.2	-	2	514	c.428C>T	c.(427-429)GCC>GTC	p.A143V		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	143	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		GAGACTTCTGGCACAACTCTG	0.353											OREG0003974	type=REGULATORY REGION|Gene=OSTM1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	108385478	G	A	108385478	3	1	189	1	0	0	0	0	1	0	0	0	11298	1203	42	2	596	2	OSTM1	6	108385478	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	605092	108385478	62729589	1842	99699											
SESN1	27244	broad.mit.edu	37	chr6	109323528	109323528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctgtcctagtggtcgagGaattctaatgccaagttcct	9	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:109323528G>A	uc003pst.3	-	2	213	c.121C>T	c.(121-123)CCT>TCT	p.P41S	SESN1_uc003psu.2_Missense_Mutation_p.P100S	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	41					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		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)		AGTGGTCGAGGAATTCTAATG	0.413													A	109323528	G	A	109323528	3	1	189	1	0	0	0	0	1	0	0	0	14124	1174	41	4	1393	4	SESN1	6	109323528	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	938050	109323528	61791539	1843	99700											
MICAL1	64780	broad.mit.edu	37	chr6	109774467	109774467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatagaaatacttaccCttcctaggagggggctggag	14	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:109774467C>A	uc003ptj.2	-	3	824	c.570G>T	c.(568-570)AAG>AAT	p.K190N	MICAL1_uc003ptk.2_Missense_Mutation_p.K190N|MICAL1_uc010kdr.2_Missense_Mutation_p.K190N|MICAL1_uc011eaq.1_Missense_Mutation_p.K209N	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	190					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AATACTTACCCTTCCTAGGAG	0.522													A	109774467	C	A	109774467	3	1	189	1	0	0	0	0	1	0	0	0	9569	695	24	5	2721	5	MICAL1	6	109774467	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	450939	109774467	61340600	1844	99701											
ZBTB24	9841	broad.mit.edu	37	chr6	109787303	109787303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattgaggctctgaatgtgTtctgtttgctcctgttgagc	11	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:109787303T>C	uc003ptl.1	-	7	2013	c.1845A>G	c.(1843-1845)GAA>GAG	p.E615E	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.E559E|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		TCTGAATGTGTTCTGTTTGCT	0.478													C	109787303	T	C	109787303	2	2	189	1	0	0	0	0	0	0	0	1	17528	1722	60	3		3	ZBTB24	6	109787303	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	12836	109787303	61327764	1845	99702											
AKD1	221264	broad.mit.edu	37	chr6	109962765	109962765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctgcaccctgaagttTggttagaatagctgctcttt	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:109962765T>C	uc003ptn.2	-	10	966	c.889A>G	c.(889-891)AAA>GAA	p.K297E	AKD1_uc003ptr.3_Missense_Mutation_p.K297E	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	297					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						CCCTGAAGTTTGGTTAGAATA	0.303													C	109962765	T	C	109962765	3	2	189	1	0	0	0	0	1	0	0	0	460	1821	63	3	4986	3	AKD1	6	109962765	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	175462	109962765	61152302	1846	99703											
GPR6	2830	broad.mit.edu	37	chr6	110300895	110300895	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcttgccgccacttggAccgtgtccctaggcctgggg	13	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:110300895A>T	uc011eaw.1	+	2	760	c.580A>T	c.(580-582)ACC>TCC	p.T194S	GPR6_uc011eav.1_Missense_Mutation_p.T209S|GPR6_uc003ptu.2_Missense_Mutation_p.T194S	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	194	Helical; Name=4; (Potential).					integral to plasma membrane					0		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)		CGCCACTTGGACCGTGTCCCT	0.692													T	110300895	A	T	110300895	3	4	189	1	0	0	0	0	1	0	0	0	6701	275	10	5	582	5	GPR6	6	110300895	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	338130	110300895	60814172	1847	99704											
WASF1	8936	broad.mit.edu	37	chr6	110434550	110434550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcctttggatcaaGctgtgtaacactaacagata	6	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:110434550G>A	uc003ptv.1	-	5	1084	c.247C>T	c.(247-249)CTT>TTT	p.L83F	WASF1_uc003ptw.1_Missense_Mutation_p.L83F|WASF1_uc003ptx.1_Missense_Mutation_p.L83F|WASF1_uc003pty.1_Missense_Mutation_p.L83F|WASF1_uc003ptz.1_Missense_Mutation_p.L83F	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	83					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TTTGGATCAAGCTGTGTAACA	0.303													A	110434550	G	A	110434550	3	1	189	1	0	0	0	0	1	0	0	0	17249	971	34	2	1460	2	WASF1	6	110434550	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	133655	110434550	60680517	1848	99705											
DDO	8528	broad.mit.edu	37	chr6	110714482	110714482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccacgatgtcaaaggaCggatgaagttcccacaggtc	11	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:110714482C>T	uc003puc.2	-	5	610	c.606G>A	c.(604-606)CCG>CCA	p.P202P	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.P143P	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	174					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		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)		TGTCAAAGGACGGATGAAGTT	0.502													T	110714482	C	T	110714482	2	4	189	1	0	0	0	0	0	0	0	1	4334	523	19	1		1	DDO	6	110714482	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	279932	110714482	60400585	1849	99706											
CDK19	23097	broad.mit.edu	37	chr6	110943323	110943323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaggatcatcttcatTaaggaattctcgtttggggt	9	7	6	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:110943323T>C	uc003puh.1	-	11	1151	c.1078A>G	c.(1078-1080)AAT>GAT	p.N360D	CDK19_uc003pui.1_Missense_Mutation_p.N300D|CDK19_uc011eax.1_Missense_Mutation_p.N236D	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	360							ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TCATCTTCATTAAGGAATTCT	0.353													C	110943323	T	C	110943323	3	2	189	1	0	0	0	0	1	0	0	0	3135	1754	61	3	442	3	CDK19	6	110943323	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	228841	110943323	60171744	1850	99707											
KIAA1919	91749	broad.mit.edu	37	chr6	111587480	111587480	+	Frame_Shift_Del	DEL	T	T	-													gtctcctttttctgttcttcTttttttatgttggagctgag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:111587479_111587479CT>C	uc003puv.4	+	3	1136	c.714_714CT>C	c.(712-714)ttcfs	p.F238fs		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	Homo sapiens KIAA1919 (KIAA1919), mRNA.	238					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTCTGTTCTTCTTTTTTTATG	0.398													-	111587480	T	-	111587480	7	5	189	1	0	1	0	1	0	0	0	0	8262	1609	56	0	729	0	KIAA1919	6	111587480	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	644157	111587480	59527587	1851	99708											
REV3L	5980	broad.mit.edu	37	chr6	111628643	111628643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatgctgaggttggctcCgacatttactacagatgcca	9	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:111628643C>T	uc003puy.3	-	31	9496	c.9173G>A	c.(9172-9174)CGG>CAG	p.R3058Q	REV3L_uc003pux.3_Missense_Mutation_p.R2980Q|REV3L_uc003puz.3_Missense_Mutation_p.R2980Q|REV3L_uc003puw.3_Missense_Mutation_p.R125Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	3058					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		AGGTTGGCTCCGACATTTACT	0.463								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111628643	C	T	111628643	3	4	189	1	0	0	0	0	1	0	0	0	13240	652	23	1	227	1	REV3L	6	111628643	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	41163	111628643	59486424	1852	99709											
REV3L	5980	broad.mit.edu	37	chr6	111650832	111650832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgacgcgcatcaagcattCgtgacagggctctgtcttgc	11	12	3	2	rs141338934		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:111650832C>T	uc003puy.3	-	25	8467	c.8144G>A	c.(8143-8145)CGA>CAA	p.R2715Q	REV3L_uc003pux.3_Missense_Mutation_p.R2637Q|REV3L_uc003puz.3_Missense_Mutation_p.R2637Q|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2715					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		ATCAAGCATTCGTGACAGGGC	0.413								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111650832	C	T	111650832	3	4	189	1	0	0	0	0	1	0	0	0	13240	884	31	1	1280	1	REV3L	6	111650832	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	22189	111650832	59464235	1853	99710											
REV3L	5980	broad.mit.edu	37	chr6	111695836	111695836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctggtgtttcagtacaAacttaacctcagcaccagac	6	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:111695836A>G	uc003puy.3	-	13	4045	c.3722T>C	c.(3721-3723)TTT>TCT	p.F1241S	REV3L_uc003pux.3_Missense_Mutation_p.F1163S|REV3L_uc003puz.3_Missense_Mutation_p.F1163S	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1241					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		TTTCAGTACAAACTTAACCTC	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	111695836	A	G	111695836	3	3	189	1	0	0	0	0	1	0	0	0	13240	14	1	3	5750	3	REV3L	6	111695836	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	45004	111695836	59419231	1854	99711											
FYN	2534	broad.mit.edu	37	chr6	112015676	112015676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactagaatgtttgctgatCgcagatctctatggatataa	8	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:112015676C>T	uc003pvj.2	-	11	1515	c.1175G>A	c.(1174-1176)CGA>CAA	p.R392Q	FYN_uc003pvi.2_Missense_Mutation_p.R337Q|FYN_uc003pvk.2_Missense_Mutation_p.R392Q|FYN_uc003pvh.2_Missense_Mutation_p.R389Q|FYN_uc010kdy.1_Missense_Mutation_p.R83Q	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	392	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			lung(5)|central_nervous_system(1)|skin(1)	7		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)	GTTTGCTGATCGCAGATCTCT	0.473													T	112015676	C	T	112015676	3	4	189	1	0	0	0	0	1	0	0	0	6126	884	31	1	450	1	FYN	6	112015676	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	319840	112015676	59099391	1855	99712											
MARCKS	4082	broad.mit.edu	37	chr6	114181730	114181731	+	Frame_Shift_Ins	INS	-	-	C													cccgagtgcagtccagaagcINSccccccagcggaggcggcag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:114181729_114181730G>GC	uc003pvy.4	+	1	1368_1369	c.973_974G>GC	c.(973-975)gccfs	p.A325fs		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	325					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644													C	114181731	-	C	114181730	7	5	189	1	0	1	1	0	0	0	0	0	9309	739	26	0	980	0	MARCKS	6	114181730	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	2166054	114181730	56933337	1856	99713											
ROS1	6098	broad.mit.edu	37	chr6	117681045	117681045	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cataatatcccatctcattaTcagctgtgtagcaaacggca	6	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:117681045T>A	uc003pxp.1	-	23	3774	c.3575A>T	c.(3574-3576)GAT>GTT	p.D1192V	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1192	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		CATCTCATTATCAGCTGTGTA	0.393			T	GOPC|ROS1	glioblastoma|NSCLC								A	117681045	T	A	117681045	3	1	189	1	0	0	0	0	1	0	0	0	13531	1435	50	5	3552	5	ROS1	6	117681045	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3499315	117681045	53434022	1857	99714											
ROS1	6098	broad.mit.edu	37	chr6	117709040	117709040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatttcatagcactctgCagctcaggtacattcagcat	7	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:117709040C>T	uc003pxp.1	-	13	2116	c.1917G>A	c.(1915-1917)CTG>CTA	p.L639L	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	639	Fibronectin type-III 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		TAGCACTCTGCAGCTCAGGTA	0.498			T	GOPC|ROS1	glioblastoma|NSCLC								T	117709040	C	T	117709040	2	4	189	1	0	0	0	0	0	0	0	1	13531	697	25	2		2	ROS1	6	117709040	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	27995	117709040	53406027	1858	99715											
SLC35F1	222553	broad.mit.edu	37	chr6	118588225	118588225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgctgatccggtacaAggctgtgcatttcatcggca	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:118588225A>G	uc003pxx.3	+	4	746	c.545A>G	c.(544-546)AAG>AGG	p.K182R	SLC35F1_uc003pxy.1_5'UTR	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	182					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		ATCCGGTACAAGGCTGTGCAT	0.522													G	118588225	A	G	118588225	3	3	189	1	0	0	0	0	1	0	0	0	14588	72	3	3	559	3	SLC35F1	6	118588225	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	879185	118588225	52526842	1859	99716											
C6orf204	387119	broad.mit.edu	37	chr6	118845081	118845081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgagatgatccagtcaaAacctgcagaaacatgtttac	8	9	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:118845081A>G	uc003pxz.1	-	4	1611	c.1023T>C	c.(1021-1023)GTT>GTC	p.V341V	C6orf204_uc003pya.1_Silent_p.V344V|C6orf204_uc003pyb.2_Silent_p.V341V|C6orf204_uc011ebj.1_Silent_p.V239V|C6orf204_uc003pyc.2_Silent_p.V344V	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	341						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		ATCCAGTCAAAACCTGCAGAA	0.269													G	118845081	A	G	118845081	2	3	189	1	0	0	0	0	0	0	0	1	2353	1	1	3		3	C6orf204	6	118845081	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	256856	118845081	52269986	1860	99717											
MCM9	254394	broad.mit.edu	37	chr6	119252713	119252713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacttcactggggaacatgTtgaaatattccccgatttcc	8	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:119252713T>C	uc003pyh.2	-	2	439	c.176A>G	c.(175-177)AAC>AGC	p.N59S		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	59					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GGGGAACATGTTGAAATATTC	0.443													C	119252713	T	C	119252713	3	2	189	1	0	0	0	0	1	0	0	0	9394	1725	60	3	1023	3	MCM9	6	119252713	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	407632	119252713	51862354	1861	99718											
FAM184A	79632	broad.mit.edu	37	chr6	119345686	119345686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctctagacatggtcactAtgcgttggacatgctgggct	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:119345686A>G	uc003pyj.2	-	2	800	c.452T>C	c.(451-453)ATA>ACA	p.I151T	FAM184A_uc003pyk.3_Missense_Mutation_p.I31T|FAM184A_uc003pyl.3_Missense_Mutation_p.I31T	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	151	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CATGGTCACTATGCGTTGGAC	0.398													G	119345686	A	G	119345686	3	3	189	1	0	0	0	0	1	0	0	0	5511	449	16	3	3038	3	FAM184A	6	119345686	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	92973	119345686	51769381	1862	99719											
PKIB	5570	broad.mit.edu	37	chr6	123039072	123039072	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacggaacctcagatTtgcccctcaaactggaggct	9	14	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:123039072T>C	uc003pyz.2	+	6	594	c.133T>C	c.(133-135)TTG>CTG	p.L45L	PKIB_uc003pza.2_Silent_p.L45L|PKIB_uc003pzb.2_Silent_p.L45L|PKIB_uc003pzc.2_Silent_p.L52L|PKIB_uc011ebq.1_Silent_p.L45L	NM_181794	NP_861459	Q9C010	IPKB_HUMAN	cAMP-dependent protein kinase inhibitor beta	45							cAMP-dependent protein kinase inhibitor activity				0				GBM - Glioblastoma multiforme(226;0.164)		AACCTCAGATTTGCCCCTCAA	0.507													C	123039072	T	C	123039072	2	2	189	1	0	0	0	0	0	0	0	1	11974	1838	64	3		3	PKIB	6	123039072	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3693386	123039072	48075995	1863	99720											
KIAA0408	9729	broad.mit.edu	37	chr6	127768353	127768353	+	Frame_Shift_Del	DEL	T	T	-													ccacgaagtagaggggctccTttttgcacctatcccaatgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:127768352_127768352CT>C	uc011ebs.2	-	4	1448	c.1112_1112AG>G	c.(1111-1113)aggfs	p.R371fs	KIAA0408_uc003qbc.3_Frame_Shift_Del_p.R371fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Frame_Shift_Del_p.R254fs	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	371							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)		AGAGGGGCTCCTTTTTGCACC	0.438													-	127768353	T	-	127768353	7	5	189	1	0	1	0	1	0	0	0	0	8174	1608	56	0	981	0	KIAA0408	6	127768353	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	4729281	127768353	43346714	1864	99721											
PTPRK	5796	broad.mit.edu	37	chr6	128326374	128326374	+	Frame_Shift_Del	DEL	T	T	-													ttccccatggcatctttgcgTtttttagcaagtttgctgcc					rs150668582		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:128326373_128326373GT>G	uc003qbk.3	-	14	2714	c.2347_2347AC>C	c.(2347-2349)cgcfs	p.R783fs	PTPRK_uc010kfc.3_Frame_Shift_Del_p.R784fs|PTPRK_uc003qbj.3_Frame_Shift_Del_p.R784fs|PTPRK_uc011ebu.2_Frame_Shift_Del_p.R784fs|PTPRK_uc003qbl.1_Frame_Shift_Del_p.R678fs|PTPRK_uc011ebv.1_Frame_Shift_Del_p.R794fs|PTPRK_uc010kfd.1_5'UTR	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	783					cell migration|cellular response to UV|cellular response to reactive oxygen species|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)		GCATCTTTGCGTTTTTTAGCA	0.468													-	128326374	T	-	128326374	7	5	189	1	0	1	0	1	0	0	0	0	12805	1722	60	0	2059	0	PTPRK	6	128326374	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	558021	128326374	42788693	1865	99722											
LAMA2	3908	broad.mit.edu	37	chr6	129511376	129511376	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaggaggagactgtagTcgttgcaaatccggcttctt	13	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:129511376T>C	uc003qbn.2	+	11	1599	c.1494T>C	c.(1492-1494)AGT>AGC	p.S498S	LAMA2_uc003qbo.2_Silent_p.S498S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	498	Laminin EGF-like 4.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGACTGTAGTCGTTGCAAAT	0.423													C	129511376	T	C	129511376	2	2	189	1	0	0	0	0	0	0	0	1	8606	1664	58	3		3	LAMA2	6	129511376	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1185002	129511376	41603691	1866	99723											
LAMA2	3908	broad.mit.edu	37	chr6	129649468	129649468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgttctcaaccaggtggcCgcacccctggaccaaccctg	10	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:129649468C>T	uc003qbn.2	+	29	4327	c.4222C>T	c.(4222-4224)CGC>TGC	p.R1408C	LAMA2_uc003qbo.2_Missense_Mutation_p.R1408C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1408	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCAGGTGGCCGCACCCCTGG	0.502													T	129649468	C	T	129649468	3	4	189	1	0	0	0	0	1	0	0	0	8606	652	23	1	4336	1	LAMA2	6	129649468	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	138092	129649468	41465599	1867	99724											
LAMA2	3908	broad.mit.edu	37	chr6	129802514	129802514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcagcaccaagaatgagtCcggcatcattcttttgggaa	9	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:129802514C>T	uc003qbn.2	+	54	7784	c.7679C>T	c.(7678-7680)TCC>TTC	p.S2560F	LAMA2_uc003qbo.2_Missense_Mutation_p.S2556F|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2560	Laminin G-like 3.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGAATGAGTCCGGCATCATT	0.483													T	129802514	C	T	129802514	3	4	189	1	0	0	0	0	1	0	0	0	8606	855	30	4	7897	4	LAMA2	6	129802514	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	153046	129802514	41312553	1868	99725											
MED23	9439	broad.mit.edu	37	chr6	131911475	131911475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttacctctatcatacaaCgagttctctcttgctgaaat	4	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:131911475C>T	uc003qcs.1	-	27	3968	c.3794G>A	c.(3793-3795)CGT>CAT	p.R1265H	MED23_uc003qcq.2_Missense_Mutation_p.R1271H|MED23_uc003qcr.1_Missense_Mutation_p.R120H	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1265					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATCATACAACGAGTTCTCTC	0.299													T	131911475	C	T	131911475	3	4	189	1	0	0	0	0	1	0	0	0	9441	536	19	1	331	1	MED23	6	131911475	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2108961	131911475	39203592	1869	99726											
MED23	9439	broad.mit.edu	37	chr6	131944545	131944545	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttaaatgttaaggcccaAagctgtgttctttcccactc	7	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:131944545A>G	uc003qcs.1	-	5	516	c.342T>C	c.(340-342)CTT>CTC	p.L114L	MED23_uc003qcq.2_Silent_p.L114L|MED23_uc003qct.1_Silent_p.L114L|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	114					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTAAGGCCCAAAGCTGTGTTC	0.348													G	131944545	A	G	131944545	2	3	189	1	0	0	0	0	0	0	0	1	9441	1	1	3		3	MED23	6	131944545	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	33070	131944545	39170522	1870	99727											
ENPP3	5169	broad.mit.edu	37	chr6	132006573	132006573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaataaacttcttctAcatgtacgaagggcctgccc	7	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:132006573A>G	uc003qcu.3	+	14	1537	c.1190A>G	c.(1189-1191)TAC>TGC	p.Y397C	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.Y397C	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	397	Extracellular (Potential).|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			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AACTTCTTCTACATGTACGAA	0.358													G	132006573	A	G	132006573	3	3	189	1	0	0	0	0	1	0	0	0	5131	391	14	3	1240	3	ENPP3	6	132006573	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	62028	132006573	39108494	1871	99728											
TAAR6	319100	broad.mit.edu	37	chr6	132892197	132892197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcctcagagagttacaAagccagagtggccaggagag	12	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:132892197A>G	uc011eck.1	+	1	737	c.737A>G	c.(736-738)AAA>AGA	p.K246R		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	246	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GAGAGTTACAAAGCCAGAGTG	0.403													G	132892197	A	G	132892197	3	3	189	1	0	0	0	0	1	0	0	0	15489	14	1	3	739	3	TAAR6	6	132892197	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	885624	132892197	38222870	1872	99729											
VNN2	8875	broad.mit.edu	37	chr6	133079002	133079002	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaactgccacagagatTggaaaagaggaagtgaccat	11	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:133079002T>G	uc003qdt.2	-	1	32	c.21A>C	c.(19-21)CCA>CCC	p.P7P	VNN2_uc003qds.2_5'Flank|VNN2_uc010kgb.2_Silent_p.P7P|VNN2_uc003qdv.2_Intron	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	7					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCACAGAGATTGGAAAAGAGG	0.388													G	133079002	T	G	133079002	2	3	189	1	0	0	0	0	0	0	0	1	17180	1799	63	5		5	VNN2	6	133079002	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	186805	133079002	38036065	1873	99730											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239850	135239850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaccaaatatctcttcCgtcatgcagcaggattcatc	7	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:135239850C>T	uc003qew.2	-	7	1220	c.1167G>A	c.(1165-1167)ACG>ACA	p.T389T	ALDH8A1_uc003qex.2_Silent_p.T335T|ALDH8A1_uc010kgh.2_Silent_p.T167T|ALDH8A1_uc011ecx.1_Silent_p.T339T	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	389					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ATATCTCTTCCGTCATGCAGC	0.507													T	135239850	C	T	135239850	2	4	189	1	0	0	0	0	0	0	0	1	505	639	23	1		1	ALDH8A1	6	135239850	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2160848	135239850	35875217	1874	99731											
AHI1	54806	broad.mit.edu	37	chr6	135784284	135784285	+	Frame_Shift_Ins	INS	-	-	TT													gctttagtcttcttttttgtINStttttttggtttaggttttg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:135784283_135784284G>GTT	uc003qgi.3	-	7	1294_1295	c.910_911C>AAC	c.(910-912)acafs	p.T304fs	AHI1_uc003qgh.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgj.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Frame_Shift_Ins_p.T304fs	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	304						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)		CTTCTTTTTTGTTTTTTTTGGT	0.307													TT	135784285	-	TT	135784284	7	5	189	1	0	1	1	0	0	0	0	0	413	1725	60	0	2825	0	AHI1	6	135784284	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	544434	135784284	35330783	1875	99732											
BCLAF1	9774	broad.mit.edu	37	chr6	136600996	136600996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtgatctagaattggaGcgacccatttcttttctcct	8	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:136600996G>A	uc003qgx.1	-	3	262	c.9C>T	c.(7-9)CGC>CGT	p.R3R	BCLAF1_uc003qgw.1_Silent_p.R3R|BCLAF1_uc003qgy.1_Silent_p.R3R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.R3R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	3					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TAGAATTGGAGCGACCCATTT	0.308													A	136600996	G	A	136600996	2	1	189	1	0	0	0	0	0	0	0	1	1383	958	34	2		2	BCLAF1	6	136600996	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	816712	136600996	34514071	1876	99733											
MAP7	9053	broad.mit.edu	37	chr6	136682268	136682268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcgactcctcctcacggcGagtcgtcctctcttcagcca	9	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:136682268G>A	uc003qgz.2	-	12	1822	c.1576C>T	c.(1576-1578)CGC>TGC	p.R526C	MAP7_uc011edf.1_Missense_Mutation_p.R511C|MAP7_uc011edg.1_Missense_Mutation_p.R556C|MAP7_uc010kgu.2_Missense_Mutation_p.R548C|MAP7_uc011edh.1_Missense_Mutation_p.R511C|MAP7_uc010kgv.2_Missense_Mutation_p.R548C|MAP7_uc010kgs.2_Missense_Mutation_p.R380C|MAP7_uc011edi.1_Missense_Mutation_p.R380C|MAP7_uc010kgq.1_Missense_Mutation_p.R432C|MAP7_uc003qha.1_Missense_Mutation_p.R489C	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	526	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCCTCACGGCGAGTCGTCCTC	0.597													A	136682268	G	A	136682268	3	1	189	1	0	0	0	0	1	0	0	0	9266	1058	37	1	701	1	MAP7	6	136682268	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	81272	136682268	34432799	1877	99734											
MAP7	9053	broad.mit.edu	37	chr6	136732783	136732783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcccgttcctcacgTcgctcccgggccagccgctg	10	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:136732783T>C	uc003qgz.2	-	3	465	c.219A>G	c.(217-219)CGA>CGG	p.R73R	MAP7_uc011edf.1_Silent_p.R58R|MAP7_uc011edg.1_Silent_p.R95R|MAP7_uc010kgu.2_Silent_p.R95R|MAP7_uc011edh.1_Silent_p.R95R|MAP7_uc010kgv.2_Silent_p.R95R|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Silent_p.R73R|MAP7_uc003qha.1_Silent_p.R73R|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Silent_p.R95R	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	73					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GTTCCTCACGTCGCTCCCGGG	0.502													C	136732783	T	C	136732783	2	2	189	1	0	0	0	0	0	0	0	1	9266	1654	58	3		3	MAP7	6	136732783	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	50515	136732783	34382284	1878	99735											
MAP3K5	4217	broad.mit.edu	37	chr6	136943992	136943993	+	Frame_Shift_Ins	INS	-	-	TC													acaattactgtacctgctgtINSctctctctgggatttcctta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:136943991_136943992G>GTC	uc003qhc.3	-	14	2505_2506	c.2144_2145C>GAC	c.(2143-2145)gacfs	p.D715fs	MAP3K5_uc011edj.2_Intron|MAP3K5_uc011edk.1_Frame_Shift_Ins_p.D560fs	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	715	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|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|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)		TGTACCTGCTGTCTCTCTCTGG	0.391													TC	136943993	-	TC	136943992	7	5	189	1	0	1	1	0	0	0	0	0	9253	1667	58	0	2044	0	MAP3K5	6	136943992	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	211209	136943992	34171075	1879	99736											
IL20RA	53832	broad.mit.edu	37	chr6	137329777	137329777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcagaaggctgagcaCggcgagggggccctgggacg	18	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:137329777C>T	uc003qhj.2	-	5	1116	c.683G>A	c.(682-684)CGT>CAT	p.R228H	IL20RA_uc011edl.1_Missense_Mutation_p.R179H|IL20RA_uc003qhk.2_Missense_Mutation_p.R117H|IL20RA_uc003qhi.2_Translation_Start_Site	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	228	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AGGCTGAGCACGGCGAGGGGG	0.537													T	137329777	C	T	137329777	3	4	189	1	0	0	0	0	1	0	0	0	7668	536	19	1	990	1	IL20RA	6	137329777	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	385785	137329777	33785290	1880	99737											
KIAA1244	57221	broad.mit.edu	37	chr6	138584111	138584111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccgtgggagtcagggaaCgagaggagccttgacatcag	16	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:138584111C>T	uc003qhu.2	+	12	1491	c.1491C>T	c.(1489-1491)AAC>AAT	p.N497N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	497					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTCAGGGAACGAGAGGAGCC	0.592													T	138584111	C	T	138584111	2	4	189	1	0	0	0	0	0	0	0	1	8217	535	19	1		1	KIAA1244	6	138584111	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1254334	138584111	32530956	1881	99738											
REPS1	85021	broad.mit.edu	37	chr6	139262580	139262580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaaaagcagcacaaaActcatccagtgtcaatgcac	7	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:139262580A>G	uc003qii.2	-	8	1606	c.1027T>C	c.(1027-1029)TTT>CTT	p.F343L	REPS1_uc003qig.3_Missense_Mutation_p.F343L|REPS1_uc011edr.1_Missense_Mutation_p.F343L|REPS1_uc003qij.2_Missense_Mutation_p.F343L|REPS1_uc003qik.2_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	343	EF-hand.|EH 2.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCAGCACAAAACTCATCCAGT	0.373													G	139262580	A	G	139262580	3	3	189	1	0	0	0	0	1	0	0	0	13228	43	2	3	1415	3	REPS1	6	139262580	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	678469	139262580	31852487	1882	99739											
HECA	51696	broad.mit.edu	37	chr6	139488248	139488248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaacactttccacgtgCgcatggaagacgatgcccaa	10	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:139488248C>T	uc003qin.2	+	2	1384	c.1099C>T	c.(1099-1101)CGC>TGC	p.R367C		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	367					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TTTCCACGTGCGCATGGAAGA	0.602													T	139488248	C	T	139488248	3	4	189	1	0	0	0	0	1	0	0	0	7038	768	27	1	1105	1	HECA	6	139488248	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	225668	139488248	31626819	1883	99740											
TXLNB	167838	broad.mit.edu	37	chr6	139563930	139563930	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctgatcagcctgtgcTccaacagggagaccctcgca	11	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:139563930T>A	uc011eds.1	-	10	1953	c.1788A>T	c.(1786-1788)GGA>GGT	p.G596G		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	596						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CAGCCTGTGCTCCAACAGGGA	0.612													A	139563930	T	A	139563930	2	1	189	1	0	0	0	0	0	0	0	1	16785	1538	54	5		5	TXLNB	6	139563930	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	75682	139563930	31551137	1884	99741											
HIVEP2	3097	broad.mit.edu	37	chr6	143091213	143091213	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaggcccactggactTctgccccggaagtggtgccc	12	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:143091213T>A	uc003qjd.2	-	5	5406	c.4663A>T	c.(4663-4665)AAG>TAG	p.K1555*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1555	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCACTGGACTTCTGCCCCGGA	0.522													A	143091213	T	A	143091213	4	1	189	1	0	0	0	0	0	1	0	0	7187	1792	62	5	2701	5	HIVEP2	6	143091213	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3527283	143091213	28023854	1885	99742											
HIVEP2	3097	broad.mit.edu	37	chr6	143093607	143093607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgacatgggtcaaagcGttccgtgtgaccatgagaaa	14	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:143093607G>A	uc003qjd.2	-	5	3012	c.2269C>T	c.(2269-2271)CGC>TGC	p.R757C		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGGTCAAAGCGTTCCGTGTGA	0.522													A	143093607	G	A	143093607	3	1	189	1	0	0	0	0	1	0	0	0	7187	1145	40	1	5095	1	HIVEP2	6	143093607	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2394	143093607	28021460	1886	99743											
UTRN	7402	broad.mit.edu	37	chr6	145095484	145095484	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcaaaatccgaagactAcaaaaagcactatgttgtga	7	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:145095484A>G	uc003qkt.2	+	59	8708	c.8616A>G	c.(8614-8616)CTA>CTG	p.L2872L		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2872	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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCCGAAGACTACAAAAAGCAC	0.323													G	145095484	A	G	145095484	2	3	189	1	0	0	0	0	0	0	0	1	17100	378	14	3		3	UTRN	6	145095484	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2001877	145095484	26019583	1887	99744											
EPM2A	7957	broad.mit.edu	37	chr6	145956616	145956616	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacccagccagatatttggTagaattctaatgagaacata	7	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:145956616T>C	uc003qkw.2	-	3	840	c.483A>G	c.(481-483)CTA>CTG	p.L161L	EPM2A_uc003qkv.2_Silent_p.L161L|EPM2A_uc010khr.2_Intron|EPM2A_uc003qkx.2_Silent_p.L23L|EPM2A_uc003qku.2_Silent_p.L7L	NM_005670	NP_005661	O95278	EPM2A_HUMAN	laforin isoform a	161					glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		AGATATTTGGTAGAATTCTAA	0.378													C	145956616	T	C	145956616	2	2	189	1	0	0	0	0	0	0	0	1	5183	1625	57	3		3	EPM2A	6	145956616	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	861132	145956616	25158451	1888	99745											
FBXO30	84085	broad.mit.edu	37	chr6	146127309	146127309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggacacatttctagatgtTcagcaactttatttcgggcc	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:146127309T>C	uc003qla.2	-	2	432	c.233A>G	c.(232-234)GAA>GGA	p.E78G	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	78	TRAF-type.						ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTCTAGATGTTCAGCAACTTT	0.413													C	146127309	T	C	146127309	3	2	189	1	0	0	0	0	1	0	0	0	5740	1783	62	3	2012	3	FBXO30	6	146127309	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	170693	146127309	24987758	1889	99746											
SHPRH	257218	broad.mit.edu	37	chr6	146267451	146267451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctccaaaataatgtgaCggaataaaataattcaccac	4	9	1	1	rs140562619	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:146267451C>T	uc003qlf.2	-	7	1638	c.1239G>A	c.(1237-1239)CCG>CCA	p.P413P	SHPRH_uc003qld.2_Silent_p.P413P|SHPRH_uc003qle.2_Silent_p.P413P|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Silent_p.P302P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	413					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAATGTGACGGAATAAAAT	0.323													T	146267451	C	T	146267451	2	4	189	1	0	0	0	0	0	0	0	1	14291	523	19	1		1	SHPRH	6	146267451	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	140142	146267451	24847616	1890	99747											
SASH1	23328	broad.mit.edu	37	chr6	148865705	148865705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagccccaccagccctagCgactgtcccccagcactggc	9	21	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:148865705C>T	uc003qme.1	+	18	3574	c.3099C>T	c.(3097-3099)AGC>AGT	p.S1033S	SASH1_uc011eeb.1_Silent_p.S794S|SASH1_uc003qmf.1_Silent_p.S443S	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1033	Pro-rich.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCAGCCCTAGCGACTGTCCCC	0.711													T	148865705	C	T	148865705	2	4	189	1	0	0	0	0	0	0	0	1	13848	767	27	1		1	SASH1	6	148865705	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2598254	148865705	22249362	1891	99748											
C6orf72	116254	broad.mit.edu	37	chr6	149911891	149911891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagttggataaagtggacGtcatacctgtgacagctatc	10	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:149911891G>A	uc003qmq.1	+	8	937	c.910G>A	c.(910-912)GTC>ATC	p.V304I		NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	304	Cytoplasmic (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		TAAAGTGGACGTCATACCTGT	0.343													A	149911891	G	A	149911891	3	1	189	1	0	0	0	0	1	0	0	0	2371	1145	40	1	940	1	C6orf72	6	149911891	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1046186	149911891	21203176	1892	99749											
LATS1	9113	broad.mit.edu	37	chr6	150004383	150004383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcctaacagtaatAggtgaagttgtaatctgttt	8	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:150004383A>G	uc003qmu.1	-	4	2390	c.1842T>C	c.(1840-1842)CCT>CCC	p.P614P	LATS1_uc010kif.1_Silent_p.P509P|LATS1_uc003qmv.1_Silent_p.P614P|LATS1_uc003qmw.2_Silent_p.P614P|LATS1_uc010kig.1_Silent_p.P509P	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	614	Interaction with YAP1.				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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAACAGTAATAGGTGAAGTTG	0.363													G	150004383	A	G	150004383	2	3	189	1	0	0	0	0	0	0	0	1	8646	407	15	3		3	LATS1	6	150004383	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	92492	150004383	21110684	1893	99750											
LATS1	9113	broad.mit.edu	37	chr6	150004895	150004895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcccactgctcggggAtgactgggctggagcagaag	15	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:150004895A>G	uc003qmu.1	-	4	1878	c.1330T>C	c.(1330-1332)TCC>CCC	p.S444P	LATS1_uc010kif.1_Missense_Mutation_p.S339P|LATS1_uc003qmv.1_Missense_Mutation_p.S444P|LATS1_uc003qmw.2_Missense_Mutation_p.S444P|LATS1_uc010kig.1_Missense_Mutation_p.S339P	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	444					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTGCTCGGGGATGACTGGGCT	0.438													G	150004895	A	G	150004895	3	3	189	1	0	0	0	0	1	0	0	0	8646	333	12	3	2082	3	LATS1	6	150004895	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	512	150004895	21110172	1894	99751											
PLEKHG1	57480	broad.mit.edu	37	chr6	151130245	151130245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattccctttctcaggagaTacagagtttgctcactaact	6	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:151130245T>C	uc003qny.1	+	9	1229	c.917T>C	c.(916-918)ATA>ACA	p.I306T	PLEKHG1_uc011eel.1_Missense_Mutation_p.I346T|PLEKHG1_uc011eem.1_Missense_Mutation_p.I365T|PLEKHG1_uc003qnz.2_Missense_Mutation_p.I306T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	306					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTCAGGAGATACAGAGTTTG	0.562													C	151130245	T	C	151130245	3	2	189	1	0	0	0	0	1	0	0	0	12068	1406	49	3	943	3	PLEKHG1	6	151130245	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1125350	151130245	19984822	1895	99752											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153218	151153218	+	Frame_Shift_Del	DEL	A	A	-													gtcagaagattaagaaggcgAatcaacttttaaaagtgaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:151153217_151153217GA>G	uc011eem.1	+	14	3235	c.3147_3147GA>G	c.(3145-3147)gcgfs	p.A1049fs	PLEKHG1_uc011eel.1_Frame_Shift_Del_p.A1030fs|PLEKHG1_uc003qny.1_Frame_Shift_Del_p.A990fs|PLEKHG1_uc003qnz.2_Frame_Shift_Del_p.A990fs	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	990					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)		TTAAGAAGGCGAATCAACTTT	0.498													-	151153218	A	-	151153218	7	5	189	1	0	1	0	1	0	0	0	0	12068	246	9	0	3025	0	PLEKHG1	6	151153218	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	22973	151153218	19961849	1896	99753											
AKAP12	9590	broad.mit.edu	37	chr6	151671447	151671447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggacaaggtcaagagcGctaccttgtcttccaccgag	11	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:151671447G>A	uc011eep.1	+	4	2161	c.1921G>A	c.(1921-1923)GCT>ACT	p.A641T	AKAP12_uc003qoe.2_Missense_Mutation_p.A641T|AKAP12_uc003qof.2_Missense_Mutation_p.A543T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.A536T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	641					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTCAAGAGCGCTACCTTGTC	0.512													A	151671447	G	A	151671447	3	1	189	1	0	0	0	0	1	0	0	0	448	1087	38	1	1960	1	AKAP12	6	151671447	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	518229	151671447	19443620	1897	99754											
AKAP12	9590	broad.mit.edu	37	chr6	151672365	151672366	+	Frame_Shift_Ins	INS	-	-	C													agtaattgcagaagaagaacINScccccacggttactgaacct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:151672364_151672365A>AC	uc011eep.2	+	3	3078_3079	c.2838_2839A>AC	c.(2836-2841)gaacccfs	p.E946fs	AKAP12_uc003qoe.3_Frame_Shift_Ins_p.E946fs|AKAP12_uc003qof.3_Frame_Shift_Ins_p.E848fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Ins_p.E841fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	946				E -> G (in Ref. 4; CAH18338).	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)		CAGAAGAAGAACCCCCCACGGT	0.525													C	151672366	-	C	151672365	7	5	189	1	0	1	1	0	0	0	0	0	448	507	18	0	2878	0	AKAP12	6	151672365	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	918	151672365	19442702	1898	99755											
AKAP12	9590	broad.mit.edu	37	chr6	151674211	151674211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagccgttgaccagtttgTacgtacagaagaaacagcca	10	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:151674211T>C	uc011eep.1	+	4	4925	c.4685T>C	c.(4684-4686)GTA>GCA	p.V1562A	AKAP12_uc003qoe.2_Missense_Mutation_p.V1562A|AKAP12_uc003qof.2_Missense_Mutation_p.V1464A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.V1457A	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1562					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACCAGTTTGTACGTACAGAA	0.458													C	151674211	T	C	151674211	3	2	189	1	0	0	0	0	1	0	0	0	448	1638	57	3	4724	3	AKAP12	6	151674211	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1846	151674211	19440856	1899	99756											
C6orf97	80129	broad.mit.edu	37	chr6	151917602	151917602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggacaacgcgcatcttAccatcaggaacttgcagaag	11	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:151917602A>C	uc003qol.2	+	9	1689	c.1600A>C	c.(1600-1602)ACC>CCC	p.T534P		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	534	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		CGCGCATCTTACCATCAGGAA	0.552													C	151917602	A	C	151917602	3	2	189	1	0	0	0	0	1	0	0	0	2374	391	14	5	1634	5	C6orf97	6	151917602	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	243391	151917602	19197465	1900	99757											
SYNE1	23345	broad.mit.edu	37	chr6	152539517	152539517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaactcttggcaaaggTttcataatcaagaactccag	6	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:152539517T>C	uc010kiw.2	-	121	22668	c.22066A>G	c.(22066-22068)ACC>GCC	p.T7356A	SYNE1_uc010kiv.2_Missense_Mutation_p.T1880A|SYNE1_uc003qos.3_Missense_Mutation_p.T1880A|SYNE1_uc003qot.3_Missense_Mutation_p.T7285A|SYNE1_uc003qou.3_Missense_Mutation_p.T7356A|SYNE1_uc003qor.3_Missense_Mutation_p.T256A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7356	Spectrin 24.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGCAAAGGTTTCATAATCA	0.378										HNSCC(10;0.0054)			C	152539517	T	C	152539517	3	2	189	1	0	0	0	0	1	0	0	0	15442	1725	60	3	4504	3	SYNE1	6	152539517	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	621915	152539517	18575550	1901	99758											
SYNE1	23345	broad.mit.edu	37	chr6	152643022	152643022	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcactttctcctgcatgCttcagaaacattacagggat	6	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:152643022C>T	uc010kiw.2	-	83	16520	c.15918_splice	c.e83-1	p.N5306_splice	SYNE1_uc003qot.3_Splice_Site_p.N5235_splice|SYNE1_uc003qou.3_Splice_Site_p.N5306_splice|SYNE1_uc010kiz.2_Splice_Site_p.N1061_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTGCATGCTTCAGAAACA	0.398										HNSCC(10;0.0054)			T	152643022	C	T	152643022	5	4	189	1	0	0	0	0	0	0	1	0	15442	811	28	2	10805	2	SYNE1	6	152643022	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	103505	152643022	18472045	1902	99759											
SYNE1	23345	broad.mit.edu	37	chr6	152786491	152786491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcgatcccagttagagaTcacttcttccagcatgctcc	7	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:152786491T>C	uc010kiw.2	-	18	2436	c.1834A>G	c.(1834-1836)ATC>GTC	p.I612V	SYNE1_uc003qot.3_Missense_Mutation_p.I619V|SYNE1_uc003qou.3_Missense_Mutation_p.I612V|SYNE1_uc010kjb.1_Missense_Mutation_p.I595V|SYNE1_uc003qpa.1_Missense_Mutation_p.I612V|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.I128V|SYNE1_uc003qoz.2_Missense_Mutation_p.I44V|SYNE1_uc003qoy.2_Missense_Mutation_p.I179V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	612	Cytoplasmic (Potential).|HAT 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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTTAGAGATCACTTCTTCC	0.448										HNSCC(10;0.0054)			C	152786491	T	C	152786491	3	2	189	1	0	0	0	0	1	0	0	0	15442	1435	50	3	25148	3	SYNE1	6	152786491	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	143469	152786491	18328576	1903	99760											
SYNE1	23345	broad.mit.edu	37	chr6	152831446	152831446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctaactatgctgtccaCggaggatgcgctgctggaca	13	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:152831446C>T	uc010kiw.2	-	8	1065	c.463G>A	c.(463-465)GTG>ATG	p.V155M	SYNE1_uc003qot.3_Missense_Mutation_p.V162M|SYNE1_uc003qou.3_Missense_Mutation_p.V155M|SYNE1_uc010kjb.1_Missense_Mutation_p.V155M|SYNE1_uc003qpa.1_Missense_Mutation_p.V155M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	155	Actin-binding.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTGTCCACGGAGGATGCG	0.473										HNSCC(10;0.0054)			T	152831446	C	T	152831446	3	4	189	1	0	0	0	0	1	0	0	0	15442	536	19	1	26559	1	SYNE1	6	152831446	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	44955	152831446	18283621	1904	99761											
MTRF1L	54516	broad.mit.edu	37	chr6	153315653	153315653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttatgccttacctcagTaggctggggtaatattgcta	12	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:153315653T>C	uc003qpi.3	-	4	787	c.682A>G	c.(682-684)ACT>GCT	p.T228A	MTRF1L_uc003qpl.3_Missense_Mutation_p.T228A|MTRF1L_uc011efa.1_Missense_Mutation_p.T192A|MTRF1L_uc003qpj.3_Missense_Mutation_p.T86A|MTRF1L_uc003qpk.3_Missense_Mutation_p.T192A	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	228						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CTTACCTCAGTAGGCTGGGGT	0.473													C	153315653	T	C	153315653	3	2	189	1	0	0	0	0	1	0	0	0	9960	1638	57	3	476	3	MTRF1L	6	153315653	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	484207	153315653	17799414	1905	99762											
RBM16	22828	broad.mit.edu	37	chr6	155114029	155114029	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagattattcagccccttTtggatatggcagccgggatt	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:155114029T>C	uc003qqa.2	+	6	626	c.394T>C	c.(394-396)TTG>CTG	p.L132L	RBM16_uc011efj.1_Silent_p.L198L|RBM16_uc011efk.1_Silent_p.L177L|RBM16_uc003qpz.2_Silent_p.L132L|RBM16_uc010kji.2_Silent_p.L153L	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	132	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		TCAGCCCCTTTTGGATATGGC	0.393													C	155114029	T	C	155114029	2	2	189	1	0	0	0	0	0	0	0	1	13118	1838	64	3		3	RBM16	6	155114029	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1798376	155114029	16001038	1906	99763											
ARID1B	57492	broad.mit.edu	37	chr6	157522190	157522190	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggccctacacaggcgCccccttacccaggcatgaac	10	18	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:157522190C>G	uc003qqn.2	+	18	4560	c.4408C>G	c.(4408-4410)CCC>GCC	p.P1470A	ARID1B_uc003qqo.2_Missense_Mutation_p.P1430A|ARID1B_uc003qqp.2_Missense_Mutation_p.P1417A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1475	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACACAGGCGCCCCCTTACCC	0.587													G	157522190	C	G	157522190	3	3	189	1	0	0	0	0	1	0	0	0	914	739	26	5	4532	5	ARID1B	6	157522190	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2408161	157522190	13592877	1907	99764											
ARID1B	57492	broad.mit.edu	37	chr6	157527749	157527749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctcggcgggggtgAcaccaccgagcacattcaga	14	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:157527749A>G	uc003qqn.2	+	20	5572	c.5420A>G	c.(5419-5421)GAC>GGC	p.D1807G	ARID1B_uc003qqo.2_Missense_Mutation_p.D1767G|ARID1B_uc003qqp.2_Missense_Mutation_p.D1754G	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1812					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCGGGGGTGACACCACCGAG	0.542													G	157527749	A	G	157527749	3	3	189	1	0	0	0	0	1	0	0	0	914	275	10	3	5552	3	ARID1B	6	157527749	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5559	157527749	13587318	1908	99765											
C6orf35	729515	broad.mit.edu	37	chr6	157739925	157739925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagggaagacccgctttcCggtaatgcagccgtggccat	13	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:157739925C>T	uc003sih.3	-	3	479	c.216G>A	c.(214-216)CCG>CCA	p.P72P		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	72						integral to membrane					0						ACCCGCTTTCCGGTAATGCAG	0.498													T	157739925	C	T	157739925	2	4	189	1	0	0	0	0	0	0	0	1	2363	639	23	1		1	C6orf35	6	157739925	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	212176	157739925	13375142	1909	99766											
SYNJ2	8871	broad.mit.edu	37	chr6	158483115	158483115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggaagctagagaaatTggagaccctcttgaggccac	14	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:158483115T>C	uc003qqx.1	+	8	1121	c.1046T>C	c.(1045-1047)TTG>TCG	p.L349S	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.L349S|SYNJ2_uc003qqy.1_Missense_Mutation_p.L62S|SYNJ2_uc011efn.1_Missense_Mutation_p.L277S|SYNJ2_uc010kjo.1_Missense_Mutation_p.L298S|SYNJ2_uc003qqz.1_5'UTR	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	349	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTAGAGAAATTGGAGACCCTC	0.522													C	158483115	T	C	158483115	3	2	189	1	0	0	0	0	1	0	0	0	15450	1821	63	3	1076	3	SYNJ2	6	158483115	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	743190	158483115	12631952	1910	99767											
FNDC1	84624	broad.mit.edu	37	chr6	159642717	159642717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagggctgccctaacaaagcGaaagatttcaggtatgtttc	10	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:159642717G>A	uc010kjv.2	+	6	955	c.755G>A	c.(754-756)CGA>CAA	p.R252Q	FNDC1_uc010kjw.1_Missense_Mutation_p.R200Q	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	252						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		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)		CTAACAAAGCGAAAGATTTCA	0.483													A	159642717	G	A	159642717	3	1	189	1	0	0	0	0	1	0	0	0	5968	1058	37	1	777	1	FNDC1	6	159642717	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1159602	159642717	11472350	1911	99768											
ACAT2	39	broad.mit.edu	37	chr6	160197274	160197274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactttcttactgatggaAcgggaacagtcaccccagcc	8	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:160197274A>G	uc010kjy.2	+	6	858	c.727A>G	c.(727-729)ACG>GCG	p.T243A	ACAT2_uc011efw.1_Missense_Mutation_p.T272A	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	acetyl-Coenzyme A acetyltransferase 2	243						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TACTGATGGAACGGGAACAGT	0.418													G	160197274	A	G	160197274	3	3	189	1	0	0	0	0	1	0	0	0	122	43	2	3	749	3	ACAT2	6	160197274	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	554557	160197274	10917793	1912	99769											
IGF2R	3482	broad.mit.edu	37	chr6	160466820	160466820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagaacttctggggaaggCggttgcttttatgagtttga	14	4	1	3	rs139665293		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:160466820C>T	uc003qta.2	+	14	1957	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	603	4.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTGGGGAAGGCGGTTGCTTTT	0.493													T	160466820	C	T	160466820	2	4	189	1	0	0	0	0	0	0	0	1	7576	755	27	1		1	IGF2R	6	160466820	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	269546	160466820	10648247	1913	99770											
IGF2R	3482	broad.mit.edu	37	chr6	160494304	160494304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaagaggctgagatacGtggaccaggtcctgcagctg	13	11	0	2	rs140858283		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:160494304G>A	uc003qta.2	+	34	4898	c.4750G>A	c.(4750-4752)GTG>ATG	p.V1584M		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1584	11.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCTGAGATACGTGGACCAGGT	0.557													A	160494304	G	A	160494304	3	1	189	1	0	0	0	0	1	0	0	0	7576	1145	40	1	4884	1	IGF2R	6	160494304	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	27484	160494304	10620763	1914	99771											
SLC22A1	6580	broad.mit.edu	37	chr6	160560826	160560826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccattgaccgcgtgggCcgcatctaccccatggccat	9	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:160560826C>T	uc003qtc.2	+	7	1308	c.1203C>T	c.(1201-1203)GGC>GGT	p.G401G	SLC22A1_uc003qtd.2_Silent_p.G401G	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	401	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACCGCGTGGGCCGCATCTACC	0.552													T	160560826	C	T	160560826	2	4	189	1	0	0	0	0	0	0	0	1	14440	726	26	2		2	SLC22A1	6	160560826	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	66522	160560826	10554241	1915	99772											
SLC22A3	6581	broad.mit.edu	37	chr6	160819102	160819102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagcattcaccttaggctAtgcagcagacaggtaggtac	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:160819102A>G	uc003qti.2	+	2	548	c.521A>G	c.(520-522)TAT>TGT	p.Y174C	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	174						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		ACCTTAGGCTATGCAGCAGAC	0.433													G	160819102	A	G	160819102	3	3	189	1	0	0	0	0	1	0	0	0	14455	449	16	3	527	3	SLC22A3	6	160819102	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	258276	160819102	10295965	1916	99773											
SLC22A3	6581	broad.mit.edu	37	chr6	160858109	160858109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctatatagactttttcaTctcgggcgtggtggaactgc	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:160858109T>G	uc003qti.2	+	7	1181	c.1154T>G	c.(1153-1155)ATC>AGC	p.I385S	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	385	Helical; (Potential).					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		GACTTTTTCATCTCGGGCGTG	0.512													G	160858109	T	G	160858109	3	3	189	1	0	0	0	0	1	0	0	0	14455	1435	50	5	1180	5	SLC22A3	6	160858109	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	39007	160858109	10256958	1917	99774											
LPA	4018	broad.mit.edu	37	chr6	161007564	161007564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccatcactggacattgcGtcaggttgcagtactcccat	8	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:161007564G>A	uc003qtl.2	-	26	4166	c.4046C>T	c.(4045-4047)ACG>ATG	p.T1349M		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3857	Kringle 34.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	TGGACATTGCGTCAGGTTGCA	0.522													A	161007564	G	A	161007564	3	1	189	1	0	0	0	0	1	0	0	0	8903	1145	40	1	2136	1	LPA	6	161007564	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	149455	161007564	10107503	1918	99775											
PLG	5340	broad.mit.edu	37	chr6	161162399	161162399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgccatccccaaattatgTggtcgctgaccggaccgaat	9	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:161162399T>C	uc003qtm.3	+	17	2138	c.2075T>C	c.(2074-2076)GTG>GCG	p.V692A		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	692	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			skin(3)|ovary(1)	4				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)	CCAAATTATGTGGTCGCTGAC	0.478													C	161162399	T	C	161162399	3	2	189	1	0	0	0	0	1	0	0	0	12086	1696	59	3	2145	3	PLG	6	161162399	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	154835	161162399	9952668	1919	99776											
MAP3K4	4216	broad.mit.edu	37	chr6	161523764	161523764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaggagattcaagtgggtCcacaagaagaagttgggaac	14	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:161523764C>T	uc003qtn.2	+	19	3951	c.3809C>T	c.(3808-3810)TCC>TTC	p.S1270F	MAP3K4_uc010kkc.1_Missense_Mutation_p.S1266F|MAP3K4_uc003qto.2_Missense_Mutation_p.S1220F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.S723F|MAP3K4_uc003qtp.2_Missense_Mutation_p.S206F|MAP3K4_uc003qtq.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1270					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			ovary(3)|lung(3)|skin(2)|stomach(1)	9		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)		TCAAGTGGGTCCACAAGAAGA	0.323													T	161523764	C	T	161523764	3	4	189	1	0	0	0	0	1	0	0	0	9252	855	30	4	3883	4	MAP3K4	6	161523764	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	361365	161523764	9591303	1920	99777											
AGPAT4	56895	broad.mit.edu	37	chr6	161653160	161653160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaagagctgaatggtgTtgatgattagccctgaggca	15	5	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:161653160T>C	uc003qtr.1	-	2	313	c.86A>G	c.(85-87)AAC>AGC	p.N29S	AGPAT4_uc003qts.1_5'UTR|AGPAT4_uc011egb.1_Missense_Mutation_p.N29S|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.N29S|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Missense_Mutation_p.N29S	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	29	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		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)		CTGAATGGTGTTGATGATTAG	0.517													C	161653160	T	C	161653160	3	2	189	1	0	0	0	0	1	0	0	0	389	1725	60	3	1082	3	AGPAT4	6	161653160	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	129396	161653160	9461907	1921	99778											
PACRG	135138	broad.mit.edu	37	chr6	163149299	163149299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagaccctgagcttaaAcaaatgcccagacaagatgc	8	10	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:163149299A>G	uc003qua.2	+	2	256	c.32A>G	c.(31-33)AAC>AGC	p.N11S	PARK2_uc003qtx.3_5'Flank|PARK2_uc003qty.3_5'Flank|PARK2_uc003qtz.3_5'Flank|PARK2_uc010kke.1_5'Flank|PACRG_uc003qub.2_Missense_Mutation_p.N11S|PACRG_uc003quc.2_Missense_Mutation_p.N11S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	11											0		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)		CTGAGCTTAAACAAATGCCCA	0.488													G	163149299	A	G	163149299	3	3	189	1	0	0	0	0	1	0	0	0	11370	43	2	3	34	3	PACRG	6	163149299	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1496139	163149299	7965768	1922	99779											
SMOC2	64094	broad.mit.edu	37	chr6	168947819	168947819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgccgcagctccagcgTtggagactcagcctcaagga	12	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:168947819T>C	uc003qws.1	+	6	552	c.532T>C	c.(532-534)TTG>CTG	p.L178L	SMOC2_uc003qwr.1_Silent_p.L189L	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	178					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AGCTCCAGCGTTGGAGACTCA	0.522													C	168947819	T	C	168947819	2	2	189	1	0	0	0	0	0	0	0	1	14802	1722	60	3		3	SMOC2	6	168947819	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5798520	168947819	2167248	1923	99780											
SMOC2	64094	broad.mit.edu	37	chr6	169064767	169064767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagcccccagaggtcaTgctgaaagtacgtctaatag	10	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:169064767T>C	uc003qws.1	+	12	1319	c.1299T>C	c.(1297-1299)CAT>CAC	p.H433H	SMOC2_uc003qwr.1_Silent_p.H444H|SMOC2_uc011egu.1_Silent_p.H110H	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	433					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCAGAGGTCATGCTGAAAGTA	0.299													C	169064767	T	C	169064767	2	2	189	1	0	0	0	0	0	0	0	1	14802	1461	51	3		3	SMOC2	6	169064767	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	116948	169064767	2050300	1924	99781											
THBS2	7058	broad.mit.edu	37	chr6	169621532	169621532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgccctcacctgatgtAgccagtcttgggcctgtgag	12	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:169621532A>G	uc003qwt.2	-	21	3612	c.3364T>C	c.(3364-3366)TAC>CAC	p.Y1122H		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	1122	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CACCTGATGTAGCCAGTCTTG	0.522													G	169621532	A	G	169621532	3	3	189	1	0	0	0	0	1	0	0	0	15851	420	15	3	166	3	THBS2	6	169621532	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	556765	169621532	1493535	1925	99782											
THBS2	7058	broad.mit.edu	37	chr6	169625316	169625316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacgccatcgttgtcatcAtcagggtcacaggcgtcgcc	13	13	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:169625316A>G	uc003qwt.2	-	18	2945	c.2697T>C	c.(2695-2697)GAT>GAC	p.D899D		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	899	TSP type-3 7.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		cgttgtcatcatcagggtcac	0.194													G	169625316	A	G	169625316	2	3	189	1	0	0	0	0	0	0	0	1	15851	214	8	3		3	THBS2	6	169625316	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3784	169625316	1489751	1926	99783											
THBS2	7058	broad.mit.edu	37	chr6	169625355	169625355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccgtctctgtcatgGtcagcctggttggcgttgga	14	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:169625355G>A	uc003qwt.2	-	18	2906	c.2658C>T	c.(2656-2658)GAC>GAT	p.D886D		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	886	TSP type-3 7.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		ctctgtcatggtcagcctggt	0.119													A	169625355	G	A	169625355	2	1	189	1	0	0	0	0	0	0	0	1	15851	1252	44	4		4	THBS2	6	169625355	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	39	169625355	1489712	1927	99784											
THBS2	7058	broad.mit.edu	37	chr6	169648841	169648841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgcccctggacttgcCgtcctgcttgagctgggccg	14	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:169648841C>T	uc003qwt.2	-	4	528	c.280G>A	c.(280-282)GGC>AGC	p.G94S		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	94	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CTGGACTTGCCGTCCTGCTTG	0.622													T	169648841	C	T	169648841	3	4	189	1	0	0	0	0	1	0	0	0	15851	652	23	1	3318	1	THBS2	6	169648841	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23486	169648841	1466226	1928	99785											
C6orf70	55780	broad.mit.edu	37	chr6	170160062	170160063	+	Frame_Shift_Ins	INS	-	-	T													aacctcgaggatttgattgtINSttttcctggtaagtactatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:170160061_170160062G>GT	uc003qxg.1	+	6	766_767	c.733_734G>GT	c.(733-735)gttfs	p.V245fs	C6orf70_uc011ehb.1_Frame_Shift_Ins_p.V119fs|C6orf70_uc003qxh.1_Frame_Shift_Ins_p.V245fs|C6orf70_uc010kky.1_Frame_Shift_Ins_p.V119fs	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	245						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GGATTTGATTGTTTTTCCTGGT	0.391													T	170160063	-	T	170160062	7	5	189	1	0	1	1	0	0	0	0	0	2370	1725	60	0	760	0	C6orf70	6	170160062	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	511221	170160062	955005	1929	99786											
DLL1	28514	broad.mit.edu	37	chr6	170597560	170597560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcctctgggtggccaggCggctgatgagtctttctggg	18	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:170597560C>T	uc003qxm.2	-	4	907	c.437G>A	c.(436-438)CGC>CAC	p.R146H	DLL1_uc011ehc.1_Missense_Mutation_p.R146H|DLL1_uc003qxn.3_3'UTR	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	146	Extracellular (Potential).				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			lung(4)|ovary(1)	5		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)		GGTGGCCAGGCGGCTGATGAG	0.627													T	170597560	C	T	170597560	3	4	189	1	0	0	0	0	1	0	0	0	4566	768	27	1	1766	1	DLL1	6	170597560	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	437498	170597560	517507	1930	99787											
FAM120B	84498	broad.mit.edu	37	chr6	170632185	170632185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctagaacacatcacGtccaagcagaaagctacctg	9	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr6:170632185G>A	uc003qxp.2	+	3	1861	c.1753G>A	c.(1753-1755)GTC>ATC	p.V585I	FAM120B_uc003qxo.1_Missense_Mutation_p.V585I|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	585					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AACACATCACGTCCAAGCAGA	0.408													A	170632185	G	A	170632185	3	1	189	1	0	0	0	0	1	0	0	0	5417	1145	40	1	1759	1	FAM120B	6	170632185	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	34625	170632185	482882	1931	99788											
GET4	51608	broad.mit.edu	37	chr7	930607	930607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcattttctgcactcagCggacggggagggctgtgcca	14	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:930607C>T	uc003sjl.1	+	5	601	c.509C>T	c.(508-510)GCG>GTG	p.A170V	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	170					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						CTGCACTCAGCGGACGGGGAG	0.498													T	930607	C	T	930607	3	4	189	1	0	0	0	0	1	0	0	0	6336	768	27	1	527	1	GET4	7	930607	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08		930607	158208056	1932	99789											
GPER	2852	broad.mit.edu	37	chr7	1131459	1131459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccacctcccccgagctcaAcctgtcccacccgctcctgg	6	23	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:1131459A>G	uc010ksd.1	+	2	484	c.95A>G	c.(94-96)AAC>AGC	p.N32S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.N32S|GPER_uc003ska.1_Missense_Mutation_p.N32S|GPER_uc003skb.2_Missense_Mutation_p.N32S	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	32	Extracellular (Potential).			Missing (in Ref. 7; AAB02736).		endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CCCGAGCTCAACCTGTCCCAC	0.667													G	1131459	A	G	1131459	3	3	189	1	0	0	0	0	1	0	0	0	6607	43	2	3	97	3	GPER	7	1131459	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	200852	1131459	158007204	1933	99790											
INTS1	26173	broad.mit.edu	37	chr7	1527082	1527082	+	Frame_Shift_Del	DEL	C	C	-													gggggaggcctccgggggggCcccctgagggccacagggga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:1527082delC	uc003skn.2	-	20	2621	c.2520delG	c.(2518-2520)GGGfs	p.G840fs	INTS1_uc003skp.1_Frame_Shift_Del_p.G187fs	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	840					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCGGGGGGGCCCCCTGAGGG	0.677													-	1527082	C	-	1527082	7	5	189	1	0	1	0	1	0	0	0	0	7775	726	26	0	4168	0	INTS1	7	1527082	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	395623	1527082	157611581	1934	99791											
CHST12	55501	broad.mit.edu	37	chr7	2472497	2472497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttctggacaagtttctcAgtgctggcgtgaagcagagc	13	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:2472497A>G	uc003smc.2	+	2	358	c.223A>G	c.(223-225)AGT>GGT	p.S75G	CHST12_uc003smd.2_Missense_Mutation_p.S75G	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	75	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CAAGTTTCTCAGTGCTGGCGT	0.677													G	2472497	A	G	2472497	3	3	189	1	0	0	0	0	1	0	0	0	3400	188	7	3	225	3	CHST12	7	2472497	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	945415	2472497	156666166	1935	99792											
TTYH3	80727	broad.mit.edu	37	chr7	2698073	2698073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcccacaccgtcagcaaCgccccggtcactgagtacat	10	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:2698073C>T	uc003smp.2	+	12	1591	c.1404C>T	c.(1402-1404)AAC>AAT	p.N468N	TTYH3_uc010ksn.2_Silent_p.N188N|TTYH3_uc003smq.2_Silent_p.N297N	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	468	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCGTCAGCAACGCCCCGGTCA	0.667													T	2698073	C	T	2698073	2	4	189	1	0	0	0	0	0	0	0	1	16738	535	19	1		1	TTYH3	7	2698073	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	225576	2698073	156440590	1936	99793											
CARD11	84433	broad.mit.edu	37	chr7	2953031	2953031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggccggcggcgctcgcagTagaaggcgcgtaccaggctg	18	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:2953031T>C	uc003smv.2	-	22	3313	c.2909A>G	c.(2908-2910)TAC>TGC	p.Y970C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	970					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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCGCTCGCAGTAGAAGGCGCG	0.657			Mis		DLBCL								C	2953031	T	C	2953031	3	2	189	1	0	0	0	0	1	0	0	0	2645	1638	57	3	571	3	CARD11	7	2953031	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	254958	2953031	156185632	1937	99794											
CARD11	84433	broad.mit.edu	37	chr7	2979388	2979388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggccctcacctggaTgatggactgcagctcctggt	11	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:2979388T>C	uc003smv.2	-	6	1263	c.859A>G	c.(859-861)ATC>GTC	p.I287V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	287	Potential.				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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCACCTGGATGATGGACTGC	0.592			Mis		DLBCL								C	2979388	T	C	2979388	3	2	189	1	0	0	0	0	1	0	0	0	2645	1464	51	3	2685	3	CARD11	7	2979388	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	26357	2979388	156159275	1938	99795											
CARD11	84433	broad.mit.edu	37	chr7	2987388	2987388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctcttcatccttcagcGtctccatgtagtcatccatc	5	16	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:2987388G>A	uc003smv.2	-	3	445	c.41C>T	c.(40-42)ACG>ATG	p.T14M		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	14					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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATCCTTCAGCGTCTCCATGTA	0.458			Mis		DLBCL								A	2987388	G	A	2987388	3	1	189	1	0	0	0	0	1	0	0	0	2645	1145	40	1	3515	1	CARD11	7	2987388	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	8000	2987388	156151275	1939	99796											
SDK1	221935	broad.mit.edu	37	chr7	4007008	4007008	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagttactgacgggatgacAgccattctaaggtgtgaggt	13	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:4007008A>T	uc003smx.2	+	10	1627	c.1488A>T	c.(1486-1488)ACA>ACT	p.T496T		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	496	Ig-like C2-type 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		ACGGGATGACAGCCATTCTAA	0.547													T	4007008	A	T	4007008	2	4	189	1	0	0	0	0	0	0	0	1	13968	175	7	5		5	SDK1	7	4007008	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1019620	4007008	155131655	1940	99797											
SDK1	221935	broad.mit.edu	37	chr7	4198165	4198165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttcagagacagaggcgGtgaccacgctgcaggatggt	15	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:4198165G>A	uc003smx.2	+	31	4850	c.4711G>A	c.(4711-4713)GTG>ATG	p.V1571M	SDK1_uc010kso.2_Missense_Mutation_p.V847M|SDK1_uc003smy.2_Missense_Mutation_p.V58M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1571	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GACAGAGGCGGTGACCACGCT	0.602													A	4198165	G	A	4198165	3	1	189	1	0	0	0	0	1	0	0	0	13968	1261	44	4	4833	4	SDK1	7	4198165	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	191157	4198165	154940498	1941	99798											
SDK1	221935	broad.mit.edu	37	chr7	4304866	4304866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggcccagggccgcgcAcctgcgccgcacaggtacga	15	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:4304866A>G	uc003smx.2	+	45	6631	c.6492A>G	c.(6490-6492)GCA>GCG	p.A2164A	SDK1_uc010kso.2_Silent_p.A1420A|SDK1_uc003smy.2_Silent_p.A651A|SDK1_uc003smz.2_Silent_p.A224A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2164	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		AGGGCCGCGCACCTGCGCCGC	0.697													G	4304866	A	G	4304866	2	3	189	1	0	0	0	0	0	0	0	1	13968	146	6	3		3	SDK1	7	4304866	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	106701	4304866	154833797	1942	99799											
KIAA0415	9907	broad.mit.edu	37	chr7	4830774	4830774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgctgtcaaagatgaggAccctggctcacagtccagcc	10	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:4830774A>G	uc003sne.2	+	17	2265	c.2182A>G	c.(2182-2184)ACC>GCC	p.T728A	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.T205A	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	728					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		AAAGATGAGGACCCTGGCTCA	0.637													G	4830774	A	G	4830774	3	3	189	1	0	0	0	0	1	0	0	0	8175	275	10	3	2248	3	KIAA0415	7	4830774	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	525908	4830774	154307889	1943	99800											
RADIL	55698	broad.mit.edu	37	chr7	4856879	4856879	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgtgcaccttggagacAtagtagacgcactgctggaa	12	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:4856879A>G	uc003snj.1	-	7	1892	c.1719T>C	c.(1717-1719)TAT>TAC	p.Y573Y	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.Y78Y|RADIL_uc011jwc.1_Silent_p.Y333Y|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	573	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTTGGAGACATAGTAGACGC	0.617													G	4856879	A	G	4856879	2	3	189	1	0	0	0	0	0	0	0	1	12997	224	8	3		3	RADIL	7	4856879	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26105	4856879	154281784	1944	99801											
RBAK	57786	broad.mit.edu	37	chr7	5104755	5104755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtcatactatactgaAcattatagaagtcattcaga	7	6	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:5104755A>G	uc010kss.1	+	6	1992	c.1668A>G	c.(1666-1668)GAA>GAG	p.E556E	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.E556E	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	556	Interaction with AR.|C2H2-type 11.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACTATACTGAACATTATAGAA	0.388													G	5104755	A	G	5104755	2	3	189	1	0	0	0	0	0	0	0	1	13100	40	2	3		3	RBAK	7	5104755	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	247876	5104755	154033908	1945	99802											
WIPI2	26100	broad.mit.edu	37	chr7	5269339	5269339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagctgcaggaaaaggtActtacgtgccttcatcccca	10	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:5269339A>G	uc003snv.2	+	12	1438	c.1222A>G	c.(1222-1224)ACT>GCT	p.T408A	WIPI2_uc003snw.2_Intron|WIPI2_uc003snx.2_Missense_Mutation_p.T390A|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_Missense_Mutation_p.T264A|WIPI2_uc003soa.2_Intron|WIPI2_uc003sob.2_Missense_Mutation_p.T151A	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	408					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AGGAAAAGGTACTTACGTGCC	0.567													G	5269339	A	G	5269339	3	3	189	1	0	0	0	0	1	0	0	0	17368	391	14	3	1302	3	WIPI2	7	5269339	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	164584	5269339	153869324	1946	99803											
SLC29A4	222962	broad.mit.edu	37	chr7	5338952	5338952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacctacttcatcacgcTgtgcctgttccccggcctcg	9	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:5338952T>C	uc003sod.2	+	9	1264	c.1103T>C	c.(1102-1104)CTG>CCG	p.L368P	SLC29A4_uc003soc.2_Missense_Mutation_p.L368P|SLC29A4_uc003soe.2_Missense_Mutation_p.L354P|SLC29A4_uc010ksw.2_RNA	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	368	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TTCATCACGCTGTGCCTGTTC	0.637													C	5338952	T	C	5338952	3	2	189	1	0	0	0	0	1	0	0	0	14537	1580	55	3	1133	3	SLC29A4	7	5338952	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	69613	5338952	153799711	1947	99804											
TNRC18	84629	broad.mit.edu	37	chr7	5401582	5401582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgctgcttctccttgtacTggcgctgcacctcggccagc	10	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:5401582T>C	uc003soi.3	-	13	4827	c.4478A>G	c.(4477-4479)CAG>CGG	p.Q1493R		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1493	Potential.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCTTGTACTGGCGCTGCAC	0.522													C	5401582	T	C	5401582	3	2	189	1	0	0	0	0	1	0	0	0	16336	1580	55	3	4500	3	TNRC18	7	5401582	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	62630	5401582	153737081	1948	99805											
FSCN1	6624	broad.mit.edu	37	chr7	5643159	5643159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactttgacatcgagtggcGtgaccggcgcatcacactga	11	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:5643159G>A	uc003sou.2	+	3	1136	c.1022G>A	c.(1021-1023)CGT>CAT	p.R341H	FSCN1_uc003sov.2_Missense_Mutation_p.R63H|FSCN1_uc003sow.2_Missense_Mutation_p.R63H	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	341					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ATCGAGTGGCGTGACCGGCGC	0.622													A	5643159	G	A	5643159	3	1	189	1	0	0	0	0	1	0	0	0	6067	1145	40	1	1032	1	FSCN1	7	5643159	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	241577	5643159	153495504	1949	99806											
ZDHHC4	55146	broad.mit.edu	37	chr7	6624663	6624663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtgtgtaactggtgTgtgcaccgtttcgaccatca	13	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:6624663T>C	uc003sqi.2	+	8	871	c.513T>C	c.(511-513)TGT>TGC	p.C171C	ZDHHC4_uc003sql.2_Silent_p.C171C|ZDHHC4_uc003sqh.2_Silent_p.C171C|ZDHHC4_uc003sqj.2_Silent_p.C171C|ZDHHC4_uc003sqk.2_Silent_p.C171C|ZDHHC4_uc003sqm.2_Silent_p.C171C	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	171	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTAACTGGTGTGTGCACCGTT	0.537													C	6624663	T	C	6624663	2	2	189	1	0	0	0	0	0	0	0	1	17614	1702	59	3		3	ZDHHC4	7	6624663	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	981504	6624663	152514000	1950	99807											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628294	6628294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatgctgggctttgTcgtggttctgagcttcctcc	11	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:6628294T>C	uc003sqi.2	+	9	1146	c.788T>C	c.(787-789)GTC>GCC	p.V263A	ZDHHC4_uc003sql.2_Missense_Mutation_p.V263A|ZDHHC4_uc003sqh.2_Missense_Mutation_p.V263A|ZDHHC4_uc003sqj.2_Missense_Mutation_p.V263A|ZDHHC4_uc003sqk.2_Missense_Mutation_p.V263A|ZDHHC4_uc003sqm.2_Missense_Mutation_p.V263A|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	263	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CTGGGCTTTGTCGTGGTTCTG	0.527													C	6628294	T	C	6628294	3	2	189	1	0	0	0	0	1	0	0	0	17614	1667	58	3	810	3	ZDHHC4	7	6628294	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3631	6628294	152510369	1951	99808											
COL28A1	340267	broad.mit.edu	37	chr7	7410437	7410437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatccaggttgaggtgaCgatgaaccaaaaatttgaac	9	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:7410437C>T	uc003src.1	-	33	3102	c.2985G>A	c.(2983-2985)TCG>TCA	p.S995S	COL28A1_uc011jxe.1_Silent_p.S678S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	995					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTTGAGGTGACGATGAACCAA	0.363													T	7410437	C	T	7410437	2	4	189	1	0	0	0	0	0	0	0	1	3686	523	19	1		1	COL28A1	7	7410437	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	782143	7410437	151728226	1952	99809											
COL28A1	340267	broad.mit.edu	37	chr7	7514247	7514247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaccttctcccctttgatTgacaggccttgtaatccctg	7	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:7514247T>C	uc003src.1	-	15	1404	c.1287A>G	c.(1285-1287)TCA>TCG	p.S429S	COL28A1_uc011jxe.1_Silent_p.S112S|COL28A1_uc003srd.2_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	429					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCCTTTGATTGACAGGCCTT	0.403													C	7514247	T	C	7514247	2	2	189	1	0	0	0	0	0	0	0	1	3686	1799	63	3		3	COL28A1	7	7514247	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	103810	7514247	151624416	1953	99810											
COL28A1	340267	broad.mit.edu	37	chr7	7571101	7571101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccgtagaaagtgcaatggTgataaatgatattcctgaaa	9	5	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:7571101T>C	uc003src.1	-	3	676	c.559A>G	c.(559-561)ACC>GCC	p.T187A	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	187	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGTGCAATGGTGATAAATGAT	0.408													C	7571101	T	C	7571101	3	2	189	1	0	0	0	0	1	0	0	0	3686	1696	59	3	2950	3	COL28A1	7	7571101	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	56854	7571101	151567562	1954	99811											
THSD7A	221981	broad.mit.edu	37	chr7	11415490	11415490	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttgccttctttggggTttctttggctttttgctgta	10	6	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:11415490T>C	uc003ssf.3	-	27	5157	c.4905A>G	c.(4903-4905)AAA>AAG	p.K1635K	uc003ssb.2_Intron|THSD7A_uc003ssd.3_Silent_p.K139K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1635	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCTTTGGGGTTTCTTTGGCT	0.348										HNSCC(18;0.044)			C	11415490	T	C	11415490	2	2	189	1	0	0	0	0	0	0	0	1	15876	1722	60	3		3	THSD7A	7	11415490	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3844389	11415490	147723173	1955	99812											
THSD7A	221981	broad.mit.edu	37	chr7	11676323	11676323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctatctccctcacctgaatAccttcttcccccttaatgca	3	17	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:11676323A>G	uc003ssf.3	-	2	708	c.456T>C	c.(454-456)GGT>GGC	p.G152G		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	152	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACCTGAATACCTTCTTCCC	0.493										HNSCC(18;0.044)			G	11676323	A	G	11676323	2	3	189	1	0	0	0	0	0	0	0	1	15876	378	14	3		3	THSD7A	7	11676323	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	260833	11676323	147462340	1956	99813											
ETV1	2115	broad.mit.edu	37	chr7	13975473	13975474	+	Frame_Shift_Ins	INS	-	-	G													ctggcgtgctggatggtgtgINSggggggttggagggcctcat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:13975472_13975473T>TG	uc021zzz.1	-	5	501_502	c.414_415A>CA	c.(412-417)cccacafs	p.P138fs	ETV1_uc021zzt.1_Frame_Shift_Ins_p.P98fs|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Frame_Shift_Ins_p.P80fs|ETV1_uc021zzw.1_Frame_Shift_Ins_p.P98fs|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Frame_Shift_Ins_p.P80fs|ETV1_uc022aaa.1_Frame_Shift_Ins_p.P120fs|ETV1_uc022aab.1_Frame_Shift_Ins_p.P138fs|ETV1_uc003ssw.4_Frame_Shift_Ins_p.P138fs|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Frame_Shift_Ins_p.P120fs|ETV1_uc022aad.1_Frame_Shift_Ins_p.P120fs|ETV1_uc010ktv.3_Frame_Shift_Ins_p.P7fs	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	138					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						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								G	13975474	-	G	13975473	7	5	189	1	0	1	1	0	0	0	0	0	5277	1335	47	0	1047	0	ETV1	7	13975473	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	2299150	13975473	145163190	1957	99814											
TSPAN13	27075	broad.mit.edu	37	chr7	16815998	16815998	+	Frame_Shift_Del	DEL	T	T	-													aacatcatcaggtgttgctaTtttttgtatcctttttaaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:16815997_16815997AT>A	uc003stq.3	+	1	467	c.225_225AT>A	c.(223-225)ctafs	p.L75fs		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	75						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)		AGGTGTTGCTATTTTTTGTAT	0.363													-	16815998	T	-	16815998	7	5	189	1	0	1	0	1	0	0	0	0	16634	1493	52	0	232	0	TSPAN13	7	16815998	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2840525	16815998	142322665	1958	99815											
DNAH11	8701	broad.mit.edu	37	chr7	21598618	21598618	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaattgttcagagaacaagTacgtaacagtacaatatata	7	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:21598618T>C	uc003svc.2	+	3	723	c.692_splice	c.e3+2	p.K231_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGAGAACAAGTACGTAACAGT	0.264									Kartagener_syndrome				C	21598618	T	C	21598618	5	2	189	1	0	0	0	0	0	0	1	0	4599	1652	57	3	704	3	DNAH11	7	21598618	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4782620	21598618	137540045	1959	99816											
DNAH11	8701	broad.mit.edu	37	chr7	21744053	21744053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtttttttttctaggTactcatgagagcattaaggg	9	4	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:21744053T>C	uc003svc.2	+	39	6327	c.6296T>C	c.(6295-6297)GTA>GCA	p.V2099A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2099					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTTTTCTAGGTACTCATGAGA	0.378									Kartagener_syndrome				C	21744053	T	C	21744053	3	2	189	1	0	0	0	0	1	0	0	0	4599	1652	57	3	6447	3	DNAH11	7	21744053	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	145435	21744053	137394610	1960	99817											
C7orf30	115416	broad.mit.edu	37	chr7	23340583	23340583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattactttgtgattgttAgtggaacttctacccgacac	8	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:23340583A>G	uc003swd.1	+	2	414	c.382A>G	c.(382-384)AGT>GGT	p.S128G		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	128						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			TGTGATTGTTAGTGGAACTTC	0.403													G	23340583	A	G	23340583	3	3	189	1	0	0	0	0	1	0	0	0	2386	420	15	3	388	3	C7orf30	7	23340583	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1596530	23340583	135798080	1961	99818											
IGF2BP3	10643	broad.mit.edu	37	chr7	23387308	23387308	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagtagagaggatagtaatCgacttctcagcagcccccgc	12	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:23387308C>T	uc003swg.2	-	7	995	c.729G>A	c.(727-729)TCG>TCA	p.S243S	IGF2BP3_uc003swf.2_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	243	KH 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			ovary(2)	2						GGATAGTAATCGACTTCTCAG	0.453													T	23387308	C	T	23387308	2	4	189	1	0	0	0	0	0	0	0	1	7575	871	31	1		1	IGF2BP3	7	23387308	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	46725	23387308	135751355	1962	99819											
OSBPL3	26031	broad.mit.edu	37	chr7	24881939	24881939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataacagaacttcctgagCatcaaaaaactcagaaaggg	8	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:24881939C>T	uc003sxf.2	-	13	1765	c.1360G>A	c.(1360-1362)GCT>ACT	p.A454T	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.A418T|OSBPL3_uc003sxh.2_Missense_Mutation_p.A423T|OSBPL3_uc003sxi.2_Missense_Mutation_p.A387T|OSBPL3_uc003sxj.1_Missense_Mutation_p.A183T|OSBPL3_uc003sxk.1_Missense_Mutation_p.A152T	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	454					lipid transport		lipid binding|protein binding			skin(1)	1						ACTTCCTGAGCATCAAAAAAC	0.398													T	24881939	C	T	24881939	3	4	189	1	0	0	0	0	1	0	0	0	11279	710	25	2	1347	2	OSBPL3	7	24881939	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1494631	24881939	134256724	1963	99820											
HOXA1	3198	broad.mit.edu	37	chr7	27135357	27135357	+	Frame_Shift_Del	DEL	C	C	-													gtggggcgaaccgatctgcaCccccctgcccactaggaagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:27135356_27135356AC>A	uc003sye.3	-	0	270	c.176_176GT>T	c.(175-177)gtgfs	p.V59fs	HOXA1_uc003syd.3_Frame_Shift_Del_p.V59fs|HOXA1_uc022aao.1_Frame_Shift_Del_p.V59fs|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	59						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						ACCGATCTGCACCCCCCTGCC	0.657											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	27135357	C	-	27135357	7	5	189	1	0	1	0	1	0	0	0	0	7288	507	18	0	840	0	HOXA1	7	27135357	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	2253418	27135357	132003306	1964	99821											
HOXA7	3204	broad.mit.edu	37	chr7	27195919	27195919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttttggtcgtaggaggcGcagggcaggttgccgtaggc	18	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:27195919G>A	uc003sys.2	-	1	378	c.246C>T	c.(244-246)TGC>TGT	p.C82C		NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	82					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				0						CGTAGGAGGCGCAGGGCAGGT	0.662													A	27195919	G	A	27195919	2	1	189	1	0	0	0	0	0	0	0	1	7297	1079	38	1		1	HOXA7	7	27195919	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	60562	27195919	131942744	1965	99822											
TRIL	9865	broad.mit.edu	37	chr7	28996503	28996503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggtggcgacactgcacgAagacagtgaggagccggccc	18	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:28996503A>G	uc003szt.2	-	3	1527	c.1160T>C	c.(1159-1161)TTC>TCC	p.F387S	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	387	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						ACACTGCACGAAGACAGTGAG	0.652													G	28996503	A	G	28996503	3	3	189	1	0	0	0	0	1	0	0	0	16482	246	9	3	1279	3	TRIL	7	28996503	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1800584	28996503	130142160	1966	99823											
SCRN1	9805	broad.mit.edu	37	chr7	29980470	29980470	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggtgagcgaaagctgActgcaaatgcacctcactcc	10	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:29980470A>G	uc010kvp.2	-	4	771	c.567T>C	c.(565-567)AGT>AGC	p.S189S	SCRN1_uc011jzy.1_Silent_p.S121S|SCRN1_uc003tak.2_Silent_p.S189S|SCRN1_uc011jzz.1_Silent_p.S189S|SCRN1_uc011kaa.1_Silent_p.S209S|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Intron	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN	secernin 1 isoform c	189					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2						GCGAAAGCTGACTGCAAATGC	0.448													G	29980470	A	G	29980470	2	3	189	1	0	0	0	0	0	0	0	1	13938	272	10	3		3	SCRN1	7	29980470	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	983967	29980470	129158193	1967	99824											
SCRN1	9805	broad.mit.edu	37	chr7	29983717	29983717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttcaaagtaattcccAccttgtccatgttcttccaa	4	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:29983717A>G	uc010kvp.2	-	3	624	c.420T>C	c.(418-420)GGT>GGC	p.G140G	SCRN1_uc011jzy.1_Silent_p.G72G|SCRN1_uc003tak.2_Silent_p.G140G|SCRN1_uc011jzz.1_Silent_p.G140G|SCRN1_uc011kaa.1_Silent_p.G160G|SCRN1_uc011jzw.1_Silent_p.G72G|SCRN1_uc011jzx.1_Intron	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN	secernin 1 isoform c	140					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2						AGTAATTCCCACCTTGTCCAT	0.468													G	29983717	A	G	29983717	2	3	189	1	0	0	0	0	0	0	0	1	13938	146	6	3		3	SCRN1	7	29983717	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3247	29983717	129154946	1968	99825											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094382	30094382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaaatcatgacaataActtgactcagtctggatcag	7	9	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:30094382A>G	uc003tam.1	+	8	945	c.854A>G	c.(853-855)AAC>AGC	p.N285S	PLEKHA8_uc003tao.2_Missense_Mutation_p.N169S|PLEKHA8_uc003tap.1_Missense_Mutation_p.N285S|PLEKHA8_uc003tan.2_Missense_Mutation_p.N285S	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	285					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						CATGACAATAACTTGACTCAG	0.378													G	30094382	A	G	30094382	3	3	189	1	0	0	0	0	1	0	0	0	12062	43	2	3	884	3	PLEKHA8	7	30094382	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	110665	30094382	129044281	1969	99826											
FAM188B	84182	broad.mit.edu	37	chr7	30825490	30825490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttctgcatgggagaagaTagacaagcttcactcggagc	12	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:30825490T>C	uc003tbt.2	+	4	622	c.545T>C	c.(544-546)ATA>ACA	p.I182T	FAM188B_uc010kwe.2_Missense_Mutation_p.I153T	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	182											0						TGGGAGAAGATAGACAAGCTT	0.512													C	30825490	T	C	30825490	3	2	189	1	0	0	0	0	1	0	0	0	5515	1406	49	3	559	3	FAM188B	7	30825490	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	731108	30825490	128313173	1970	99827											
FAM188B	84182	broad.mit.edu	37	chr7	30931599	30931599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcatcagtgaactggaaCggctcagaccccatcctgtg	13	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:30931599C>T	uc003tbt.2	+	18	2330	c.2253C>T	c.(2251-2253)AAC>AAT	p.N751N	FAM188B_uc010kwe.2_Silent_p.N722N|AQP1_uc011kac.1_Intron|FAM188B_uc003tbu.2_Silent_p.N271N	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	751											0						TGAACTGGAACGGCTCAGACC	0.557													T	30931599	C	T	30931599	2	4	189	1	0	0	0	0	0	0	0	1	5515	535	19	1		1	FAM188B	7	30931599	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	106109	30931599	128207064	1971	99828											
KBTBD2	25948	broad.mit.edu	37	chr7	32910428	32910428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaactcaacaatcgtAcacaattctctgcatttatt	3	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:32910428A>G	uc003tdb.2	-	4	1060	c.401T>C	c.(400-402)GTA>GCA	p.V134A	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	134											0			GBM - Glioblastoma multiforme(11;0.0499)			CAACAATCGTACACAATTCTC	0.358													G	32910428	A	G	32910428	3	3	189	1	0	0	0	0	1	0	0	0	7993	391	14	3	1474	3	KBTBD2	7	32910428	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1978829	32910428	126228235	1972	99829											
KBTBD2	25948	broad.mit.edu	37	chr7	32914664	32914664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcattcattgccaagttAcccgtgtatgcataagttat	7	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:32914664A>G	uc003tdb.2	-	3	935	c.276T>C	c.(274-276)GGT>GGC	p.G92G	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	92	BTB.										0			GBM - Glioblastoma multiforme(11;0.0499)			TTGCCAAGTTACCCGTGTATG	0.343													G	32914664	A	G	32914664	2	3	189	1	0	0	0	0	0	0	0	1	7993	378	14	3		3	KBTBD2	7	32914664	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4236	32914664	126223999	1973	99830											
BBS9	27241	broad.mit.edu	37	chr7	33303903	33303903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatttctttcatacaggTaccaggtacttgcttttgca	6	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:33303903T>C	uc003tdn.1	+	7	1132	c.619T>C	c.(619-621)TAC>CAC	p.Y207H	BBS9_uc003tdo.1_Missense_Mutation_p.Y207H|BBS9_uc003tdp.1_Missense_Mutation_p.Y207H|BBS9_uc003tdq.1_Missense_Mutation_p.Y207H|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.Y207H|BBS9_uc011kao.1_Missense_Mutation_p.Y85H	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	207					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TTCATACAGGTACCAGGTACT	0.244									Bardet-Biedl_syndrome				C	33303903	T	C	33303903	3	2	189	1	0	0	0	0	1	0	0	0	1342	1652	57	3	641	3	BBS9	7	33303903	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	389239	33303903	125834760	1974	99831											
ANLN	54443	broad.mit.edu	37	chr7	36462243	36462243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcgttgttttacatagcTgggaagagaacacttttgat	10	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:36462243T>C	uc003tff.2	+	14	2505	c.2301T>C	c.(2299-2301)ACT>ACC	p.T767T	ANLN_uc011kaz.1_Silent_p.T679T|ANLN_uc003tfg.2_Silent_p.T730T|ANLN_uc010kxe.2_Silent_p.T729T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	767	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						TTTACATAGCTGGGAAGAGAA	0.343													C	36462243	T	C	36462243	2	2	189	1	0	0	0	0	0	0	0	1	694	1594	55	3		3	ANLN	7	36462243	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3158340	36462243	122676420	1975	99832											
ELMO1	9844	broad.mit.edu	37	chr7	37354480	37354480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatatagaagtttgaacTatcggcatgctggagtgcaa	12	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:37354480T>C	uc003tfk.1	-	4	473	c.166A>G	c.(166-168)AGT>GGT	p.S56G	ELMO1_uc010kxg.1_Missense_Mutation_p.S56G	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	56					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						AAGTTTGAACTATCGGCATGC	0.333													C	37354480	T	C	37354480	3	2	189	1	0	0	0	0	1	0	0	0	5065	1522	53	3	2093	3	ELMO1	7	37354480	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	892237	37354480	121784183	1976	99833											
AMPH	273	broad.mit.edu	37	chr7	38505843	38505843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtattaacataaaatccaActcgtctgccatgtggaaac	6	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:38505843A>G	uc003tgu.2	-	8	665	c.596T>C	c.(595-597)GTT>GCT	p.V199A	AMPH_uc003tgv.2_Missense_Mutation_p.V199A|AMPH_uc003tgt.2_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	199	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						ATAAAATCCAACTCGTCTGCC	0.373													G	38505843	A	G	38505843	3	3	189	1	0	0	0	0	1	0	0	0	588	43	2	3	1547	3	AMPH	7	38505843	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1151363	38505843	120632820	1977	99834											
VPS41	27072	broad.mit.edu	37	chr7	38765894	38765894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtccacggttcttagcActgcagatgttgcagaactg	11	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:38765894A>G	uc003tgy.2	-	29	2543	c.2517T>C	c.(2515-2517)AGT>AGC	p.S839S	VPS41_uc003tgz.2_Silent_p.S814S|VPS41_uc010kxn.2_Silent_p.S750S|VPS41_uc003tgx.2_RNA	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	839	RING-type; atypical.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						GGTTCTTAGCACTGCAGATGT	0.358													G	38765894	A	G	38765894	2	3	189	1	0	0	0	0	0	0	0	1	17207	156	6	3		3	VPS41	7	38765894	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	260051	38765894	120372769	1978	99835											
POU6F2	11281	broad.mit.edu	37	chr7	39500291	39500291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctacagagggccccgcGtacagccagtcggccatctg	13	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:39500291G>A	uc003thb.1	+	9	1590	c.1548G>A	c.(1546-1548)GCG>GCA	p.A516A		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	516	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			central_nervous_system(1)	1						AGGGCCCCGCGTACAGCCAGT	0.592													A	39500291	G	A	39500291	2	1	189	1	0	0	0	0	0	0	0	1	12285	1132	40	1		1	POU6F2	7	39500291	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	734397	39500291	119638372	1979	99836											
POU6F2	11281	broad.mit.edu	37	chr7	39503921	39503921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcacccctaaaagtgCccagaagatcaagccggtgc	10	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:39503921C>T	uc003thb.1	+	10	1754	c.1712C>T	c.(1711-1713)GCC>GTC	p.A571V		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	571	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			central_nervous_system(1)	1						CCTAAAAGTGCCCAGAAGATC	0.542													T	39503921	C	T	39503921	3	4	189	1	0	0	0	0	1	0	0	0	12285	739	26	2	1750	2	POU6F2	7	39503921	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3630	39503921	119634742	1980	99837											
INHBA	3624	broad.mit.edu	37	chr7	41729279	41729279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactcctccacgatcatgTtctgaatgtcctttttgatg	6	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:41729279T>C	uc003thq.2	-	2	1485	c.1250A>G	c.(1249-1251)AAC>AGC	p.N417S	INHBA_uc003thr.2_Missense_Mutation_p.N417S	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	417					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			lung(5)|ovary(1)	6						CACGATCATGTTCTGAATGTC	0.473										TSP Lung(11;0.080)			C	41729279	T	C	41729279	3	2	189	1	0	0	0	0	1	0	0	0	7741	1725	60	3	34	3	INHBA	7	41729279	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2225358	41729279	117409384	1981	99838											
PSMA2	5683	broad.mit.edu	37	chr7	42962944	42962944	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggatctgactgaaataAatatggtcgtccctcattcc	8	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:42962944A>G	uc003thy.2	-	5	484	c.436T>C	c.(436-438)TTA>CTA	p.L146L	C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.L68L|PSMA2_uc003thz.1_Silent_p.L68L	NM_002787	NP_002778	P25787	PSA2_HUMAN	proteasome subunit alpha type 2	146					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|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			large_intestine(2)|ovary(1)	3						GACTGAAATAAATATGGTCGT	0.343													G	42962944	A	G	42962944	2	3	189	1	0	0	0	0	0	0	0	1	12667	11	1	3		3	PSMA2	7	42962944	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1233665	42962944	116175719	1982	99839											
CAMK2B	816	broad.mit.edu	37	chr7	44260472	44260472	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggcctcgatgagctgctcCgtggtcttaatgatctcctg	11	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:44260472C>A	uc003tkq.2	-	21	1836	c.1626G>T	c.(1624-1626)ACG>ACT	p.T542T	CAMK2B_uc003tkp.2_Silent_p.T418T|CAMK2B_uc003tkx.2_Silent_p.T378T|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.T394T|CAMK2B_uc003tks.2_Silent_p.T393T|CAMK2B_uc003tku.2_Silent_p.T379T|CAMK2B_uc003tkv.2_Silent_p.T355T|CAMK2B_uc003tkt.2_Silent_p.T394T|CAMK2B_uc003tkw.2_Silent_p.T325T|CAMK2B_uc010kyc.2_Silent_p.T418T|CAMK2B_uc003tkn.2_Silent_p.T175T	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	542					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TGAGCTGCTCCGTGGTCTTAA	0.652													A	44260472	C	A	44260472	2	1	189	1	0	0	0	0	0	0	0	1	2600	639	23	5		5	CAMK2B	7	44260472	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1297528	44260472	114878191	1983	99840											
DDX56	54606	broad.mit.edu	37	chr7	44607803	44607803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagctggaggtccctaGggttgtcttcaaagtatgtc	13	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:44607803G>T	uc003tlg.2	-	12	2046	c.1403C>A	c.(1402-1404)CCT>CAT	p.P468H	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.P404H|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.P428H	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	468					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1						GAGGTCCCTAGGGTTGTCTTC	0.557													T	44607803	G	T	44607803	3	4	189	1	0	0	0	0	1	0	0	0	4374	1000	35	5	252	5	DDX56	7	44607803	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	347331	44607803	114530860	1984	99841											
ZMIZ2	83637	broad.mit.edu	37	chr7	44802571	44802571	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcctgcctgctgagcActgcatcaccaagagtgagt	11	14	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:44802571A>T	uc003tlr.2	+	12	1811	c.1688A>T	c.(1687-1689)CAC>CTC	p.H563L	ZMIZ2_uc003tlq.2_Missense_Mutation_p.H505L|ZMIZ2_uc003tls.2_Missense_Mutation_p.H537L|ZMIZ2_uc003tlt.2_Missense_Mutation_p.H186L|ZMIZ2_uc010kyj.2_Missense_Mutation_p.H85L|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	563					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CCTGCTGAGCACTGCATCACC	0.627													T	44802571	A	T	44802571	3	4	189	1	0	0	0	0	1	0	0	0	17694	159	6	5	1730	5	ZMIZ2	7	44802571	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	194768	44802571	114336092	1985	99842											
MYO1G	64005	broad.mit.edu	37	chr7	45005794	45005794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgtccccctgcagccCgtgctgctccaggagagcgc	13	18	0	1	rs145905005	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:45005794C>T	uc003tmh.2	-	16	2179	c.2035G>A	c.(2035-2037)GGG>AGG	p.G679R	MYO1G_uc003tmf.2_Missense_Mutation_p.G122R|MYO1G_uc003tmg.2_Missense_Mutation_p.G441R|MYO1G_uc010kym.2_Missense_Mutation_p.G564R|MYO1G_uc003tmi.1_3'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	679	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						CCCTGCAGCCCGTGCTGCTCC	0.632													T	45005794	C	T	45005794	3	4	189	1	0	0	0	0	1	0	0	0	10074	652	23	1	1049	1	MYO1G	7	45005794	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	203223	45005794	114132869	1986	99843											
ADCY1	107	broad.mit.edu	37	chr7	45717522	45717522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccgctcatctttttctAccaacgttgtctacaccacc	4	15	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:45717522A>G	uc003tne.3	+	9	1678	c.1660A>G	c.(1660-1662)ACC>GCC	p.T554A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	554	Cytoplasmic (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATCTTTTTCTACCAACGTTGT	0.507													G	45717522	A	G	45717522	3	3	189	1	0	0	0	0	1	0	0	0	292	391	14	3	1694	3	ADCY1	7	45717522	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	711728	45717522	113421141	1987	99844											
IGFBP1	3484	broad.mit.edu	37	chr7	45930221	45930221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggataatttccatctgatgGccccttctgaagaggatcat	9	9	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:45930221G>A	uc003tnp.2	+	2	717	c.424G>A	c.(424-426)GCC>ACC	p.A142T	IGFBP1_uc003tno.3_Missense_Mutation_p.A142T|IGFBP1_uc010kyn.2_Missense_Mutation_p.A142T	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	142						extracellular space	insulin-like growth factor binding			lung(1)	1						CCATCTGATGGCCCCTTCTGA	0.512											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45930221	G	A	45930221	3	1	189	1	0	0	0	0	1	0	0	0	7578	1203	42	2	430	2	IGFBP1	7	45930221	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	212699	45930221	113208442	1988	99845											
TNS3	64759	broad.mit.edu	37	chr7	47479116	47479116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgcttggacttgagcAtgcgcgtgacctcctgtagg	13	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:47479116A>G	uc003tnv.2	-	6	486	c.119T>C	c.(118-120)ATG>ACG	p.M40T	TNS3_uc003tnw.2_Missense_Mutation_p.M40T|TNS3_uc010kyo.1_Missense_Mutation_p.M40T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	40	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						GGACTTGAGCATGCGCGTGAC	0.617													G	47479116	A	G	47479116	3	3	189	1	0	0	0	0	1	0	0	0	16341	217	8	3	4322	3	TNS3	7	47479116	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1548895	47479116	111659547	1989	99846											
HUS1	3364	broad.mit.edu	37	chr7	48018405	48018405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagcttggctatcatgtTactgattcctaaagcagggg	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:48018405T>C	uc003tod.1	-	2	191	c.61A>G	c.(61-63)AAC>GAC	p.N21D	HUS1_uc003toe.1_Missense_Mutation_p.N21D|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	21					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				GCTATCATGTTACTGATTCCT	0.403								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					C	48018405	T	C	48018405	3	2	189	1	0	0	0	0	1	0	0	0	7459	1754	61	3	809	3	HUS1	7	48018405	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	539289	48018405	111120258	1990	99847											
ABCA13	154664	broad.mit.edu	37	chr7	48313721	48313721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaagaaacctaaattTgagattttattagctctttt	6	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:48313721T>C	uc003toq.2	+	17	4483	c.4458T>C	c.(4456-4458)TTT>TTC	p.F1486F	ABCA13_uc010kyr.2_Silent_p.F989F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1486					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AACCTAAATTTGAGATTTTAT	0.299													C	48313721	T	C	48313721	2	2	189	1	0	0	0	0	0	0	0	1	31	1809	63	3		3	ABCA13	7	48313721	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	295316	48313721	110824942	1991	99848											
ABCA13	154664	broad.mit.edu	37	chr7	48391813	48391814	+	Frame_Shift_Ins	INS	-	-	T													ttccttattcgacaagaactINStcagatcagagtctgtcaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:48391812_48391813C>CT	uc003toq.2	+	30	10440_10441	c.10416_10417C>CT	c.(10414-10419)aacttcfs	p.N3472fs	ABCA13_uc010kys.1_Frame_Shift_Ins_p.N546fs|ABCA13_uc003tos.1_Frame_Shift_Ins_p.N298fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3472					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						TCGACAAGAACTTCAGATCAGA	0.446													T	48391814	-	T	48391813	7	5	189	1	0	1	1	0	0	0	0	0	31	1609	56	0	10368	0	ABCA13	7	48391813	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	78092	48391813	110746850	1992	99849											
IKZF1	10320	broad.mit.edu	37	chr7	50467961	50467961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccaagactccacggAcaccgagagcaacaacgagg	11	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:50467961A>G	uc003tow.3	+	9	1364	c.1196A>G	c.(1195-1197)GAC>GGC	p.D399G	IKZF1_uc003tox.3_Missense_Mutation_p.D357G|IKZF1_uc003toy.3_Missense_Mutation_p.D357G|IKZF1_uc011kck.1_Missense_Mutation_p.D312G|IKZF1_uc003toz.3_Missense_Mutation_p.D369G|IKZF1_uc010kyx.2_Missense_Mutation_p.D139G|IKZF1_uc003tpa.3_Missense_Mutation_p.D141G	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	399					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTCCACGGACACCGAGAGC	0.657			D		ALL								G	50467961	A	G	50467961	3	3	189	1	0	0	0	0	1	0	0	0	7614	275	10	3	1222	3	IKZF1	7	50467961	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2076148	50467961	108670702	1993	99850											
DDC	1644	broad.mit.edu	37	chr7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-													gtgacatggaaccaagtggaTttttttggcactgtttattc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					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)	AACCAAGTGGATTTTTTTGGC	0.507													-	50531075	T	-	50531075	7	5	189	1	0	1	0	1	0	0	0	0	4325	1493	52	0	149	0	DDC	7	50531075	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	63114	50531075	108607588	1994	99851											
COBL	23242	broad.mit.edu	37	chr7	51095667	51095667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgccgtggcctggggcGcgcacagagccattgaccag	16	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:51095667G>A	uc003tpr.3	-	10	3311	c.3126C>T	c.(3124-3126)CGC>CGT	p.R1042R	COBL_uc003tps.2_Silent_p.R1099R|COBL_uc011kcl.1_Silent_p.R1042R|COBL_uc003tpp.3_Silent_p.R828R|COBL_uc003tpq.3_Silent_p.R983R|COBL_uc003tpo.3_Silent_p.R584R	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1042										skin(3)|ovary(2)	5	Glioma(55;0.08)					GGCCTGGGGCGCGCACAGAGC	0.607													A	51095667	G	A	51095667	2	1	189	1	0	0	0	0	0	0	0	1	3653	1074	38	1		1	COBL	7	51095667	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	564592	51095667	108042996	1995	99852											
COBL	23242	broad.mit.edu	37	chr7	51096316	51096316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcccctagggggttcCggccctcatggtgggcagac	13	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:51096316C>T	uc003tpr.3	-	10	2662	c.2477G>A	c.(2476-2478)CGG>CAG	p.R826Q	COBL_uc003tps.2_Missense_Mutation_p.R883Q|COBL_uc011kcl.1_Missense_Mutation_p.R826Q|COBL_uc003tpp.3_Missense_Mutation_p.R612Q|COBL_uc003tpq.3_Missense_Mutation_p.R767Q|COBL_uc003tpo.3_Missense_Mutation_p.R368Q	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	826										skin(3)|ovary(2)	5	Glioma(55;0.08)					TAGGGGGTTCCGGCCCTCATG	0.617													T	51096316	C	T	51096316	3	4	189	1	0	0	0	0	1	0	0	0	3653	652	23	1	1324	1	COBL	7	51096316	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	649	51096316	108042347	1996	99853											
POM121L12	285877	broad.mit.edu	37	chr7	53103642	53103642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccaagccgcagcgggtggTctccgagggctggaggcgcc	18	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:53103642T>C	uc003tpz.2	+	1	294	c.278T>C	c.(277-279)GTC>GCC	p.V93A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	93											0						CAGCGGGTGGTCTCCGAGGGC	0.697													C	53103642	T	C	53103642	3	2	189	1	0	0	0	0	1	0	0	0	12241	1667	58	3	280	3	POM121L12	7	53103642	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2007326	53103642	106035021	1997	99854											
EGFR	1956	broad.mit.edu	37	chr7	55220349	55220349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacaggcccccgggagagcGactgcctggtaagatgcccc	14	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:55220349G>A	uc003tqk.2	+	6	985	c.739G>A	c.(739-741)GAC>AAC	p.D247N	EGFR_uc003tqh.2_Missense_Mutation_p.D247N|EGFR_uc003tqi.2_Missense_Mutation_p.D247N|EGFR_uc003tqj.2_Missense_Mutation_p.D247N|EGFR_uc010kzg.1_Missense_Mutation_p.D202N|EGFR_uc011kco.1_Missense_Mutation_p.D194N|EGFR_uc003tql.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	247	Approximate.|Extracellular (Potential).				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.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	CCGGGAGAGCGACTGCCTGGT	0.682		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55220349	G	A	55220349	3	1	189	1	0	0	0	0	1	0	0	0	4967	1058	37	1	761	1	EGFR	7	55220349	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2116707	55220349	103918314	1998	99855											
CCT6A	908	broad.mit.edu	37	chr7	56123451	56123451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggccagaacatctcttcgTactaaagttcatgctgaact	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:56123451T>C	uc003trl.1	+	4	635	c.471T>C	c.(469-471)CGT>CGC	p.R157R	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Silent_p.R112R|CCT6A_uc011kcu.1_Silent_p.R126R	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	157					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATCTCTTCGTACTAAAGTTC	0.373													C	56123451	T	C	56123451	2	2	189	1	0	0	0	0	0	0	0	1	2957	1625	57	3		3	CCT6A	7	56123451	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	903102	56123451	103015212	1999	99856											
CCT6A	908	broad.mit.edu	37	chr7	56128609	56128609	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtccaagcatttgcTgatgcattgctcattattcc	8	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:56128609T>C	uc003trl.1	+	11	1487	c.1323T>C	c.(1321-1323)GCT>GCC	p.A441A	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Silent_p.A396A|CCT6A_uc011kcu.1_Silent_p.A410A	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	441					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAGCATTTGCTGATGCATTGC	0.448													C	56128609	T	C	56128609	2	2	189	1	0	0	0	0	0	0	0	1	2957	1567	55	3		3	CCT6A	7	56128609	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5158	56128609	103010054	2000	99857											
PHKG1	5260	broad.mit.edu	37	chr7	56148962	56148962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtactggtagtagatccGcactgaagccagcacggtca	13	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:56148962G>A	uc003trz.1	-	10	1144	c.949C>T	c.(949-951)CGG>TGG	p.R317W	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.R211W|PHKG1_uc011kdb.1_Missense_Mutation_p.R349W|PHKG1_uc011kdc.1_Missense_Mutation_p.R308W|PHKG1_uc011kdd.1_Missense_Mutation_p.R263W	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	317	Calmodulin-binding (domain-N).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGTAGATCCGCACTGAAGCC	0.682													A	56148962	G	A	56148962	3	1	189	1	0	0	0	0	1	0	0	0	11846	1086	38	1	218	1	PHKG1	7	56148962	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	20353	56148962	102989701	2001	99858											
ZNF117	51351	broad.mit.edu	37	chr7	64439903	64439903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggtgttgggcaaaatAataaaacataactgaaagaa	8	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:64439903A>G	uc003ttr.2	-	4	1331	c.46T>C	c.(46-48)TAT>CAT	p.Y16H		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	16						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGGGCAAAATAATAAAACATA	0.323													G	64439903	A	G	64439903	3	3	189	1	0	0	0	0	1	0	0	0	17714	362	13	3	1409	3	ZNF117	7	64439903	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8290941	64439903	94698760	2002	99859											
ZNF92	168374	broad.mit.edu	37	chr7	64863286	64863286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgcccaagatgtttggCcagagcacagcataaaagat	9	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:64863286C>T	uc003ttz.2	+	4	402	c.259C>T	c.(259-261)CCA>TCA	p.P87S	ZNF92_uc003tua.2_Missense_Mutation_p.P18S|ZNF92_uc010kzu.2_Missense_Mutation_p.P55S|ZNF92_uc003tub.2_Missense_Mutation_p.P11S	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	87						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				AGATGTTTGGCCAGAGCACAG	0.303													T	64863286	C	T	64863286	3	4	189	1	0	0	0	0	1	0	0	0	18198	739	26	2	273	2	ZNF92	7	64863286	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	423383	64863286	94275377	2003	99860											
KCTD7	154881	broad.mit.edu	37	chr7	66104004	66104004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcggagtgagagtgacGggcagctttttgagcaccac	15	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:66104004G>A	uc003tve.2	+	4	817	c.655G>A	c.(655-657)GGG>AGG	p.G219R	RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Missense_Mutation_p.G219R	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	potassium channel tetramerisation domain	219						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)	3						TGAGAGTGACGGGCAGCTTTT	0.562													A	66104004	G	A	66104004	3	1	189	1	0	0	0	0	1	0	0	0	8114	1116	39	1	669	1	KCTD7	7	66104004	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1240718	66104004	93034659	2004	99861											
C7orf42	55069	broad.mit.edu	37	chr7	66413599	66413599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggagctcagatgactgcGccctccacggtcactgtgag	13	13	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:66413599G>A	uc003tvk.2	+	4	778	c.514G>A	c.(514-516)GCC>ACC	p.A172T	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.A172T	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	172						integral to membrane				ovary(1)	1						AGATGACTGCGCCCTCCACGG	0.547													A	66413599	G	A	66413599	3	1	189	1	0	0	0	0	1	0	0	0	2392	1087	38	1	524	1	C7orf42	7	66413599	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	309595	66413599	92725064	2005	99862											
TYW1	55253	broad.mit.edu	37	chr7	66660204	66660204	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcagtcttaccatggcCcacgtgccctggcatgagga	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:66660204C>A	uc003tvn.2	+	15	2006	c.1857C>A	c.(1855-1857)GCC>GCA	p.A619A	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Silent_p.A233A|PMS2L4_uc003tvo.2_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	619					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTACCATGGCCCACGTGCCCT	0.483													A	66660204	C	A	66660204	2	1	189	1	0	0	0	0	0	0	0	1	16815	610	22	5		5	TYW1	7	66660204	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	246605	66660204	92478459	2006	99863											
AUTS2	26053	broad.mit.edu	37	chr7	69064829	69064829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacaatgggaagcccccgTcctccgccccgtcccggccc	10	20	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:69064829T>C	uc003tvw.3	+	1	933	c.190T>C	c.(190-192)TCC>CCC	p.S64P	AUTS2_uc003tvv.3_Missense_Mutation_p.S64P|AUTS2_uc003tvx.3_Missense_Mutation_p.S64P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	64										ovary(2)|central_nervous_system(1)	3		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)		GAAGCCCCCGTCCTCCGCCCC	0.483													C	69064829	T	C	69064829	3	2	189	1	0	0	0	0	1	0	0	0	1225	1667	58	3	192	3	AUTS2	7	69064829	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2404625	69064829	90073834	2007	99864											
AUTS2	26053	broad.mit.edu	37	chr7	69064944	69064944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcacttttgaagcgcTggaggtaagggggacccccc	13	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:69064944T>C	uc003tvw.3	+	1	1048	c.305T>C	c.(304-306)CTG>CCG	p.L102P	AUTS2_uc003tvv.3_Missense_Mutation_p.L102P|AUTS2_uc003tvx.3_Missense_Mutation_p.L102P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	102										ovary(2)|central_nervous_system(1)	3		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)		TTTGAAGCGCTGGAGGTAAGG	0.637													C	69064944	T	C	69064944	3	2	189	1	0	0	0	0	1	0	0	0	1225	1580	55	3	307	3	AUTS2	7	69064944	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	115	69064944	90073719	2008	99865											
WBSCR17	64409	broad.mit.edu	37	chr7	70886037	70886037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagctgtggtgcatgtAcatcagccccccaaaagact	11	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:70886037A>G	uc003tvy.2	+	5	908	c.908A>G	c.(907-909)TAC>TGC	p.Y303C	WBSCR17_uc003tvz.2_Missense_Mutation_p.Y2C	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	303	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGTGCATGTACATCAGCCCC	0.592													G	70886037	A	G	70886037	3	3	189	1	0	0	0	0	1	0	0	0	17261	391	14	3	926	3	WBSCR17	7	70886037	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1821093	70886037	88252626	2009	99866											
BAZ1B	9031	broad.mit.edu	37	chr7	72892413	72892413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttactagaggtcctaggtgTacccccagaattccgtgggg	12	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:72892413T>C	uc003tyc.2	-	7	1723	c.1378A>G	c.(1378-1380)ACA>GCA	p.T460A		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	460	Lys-rich.				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			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCCTAGGTGTACCCCCAGAA	0.478													C	72892413	T	C	72892413	3	2	189	1	0	0	0	0	1	0	0	0	1330	1638	57	3	3125	3	BAZ1B	7	72892413	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2006376	72892413	86246250	2010	99867											
MLXIPL	51085	broad.mit.edu	37	chr7	73030508	73030508	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagacaccagcttgccaCtgtcaaaggggagaggagta	15	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:73030508C>T	uc003tyn.1	-	2	342	c.294_splice	c.e2-1	p.S98_splice	MLXIPL_uc003tyk.1_Splice_Site_p.S98_splice|MLXIPL_uc003tyl.1_Splice_Site_p.S98_splice|MLXIPL_uc003tym.1_Splice_Site_p.S98_splice|MLXIPL_uc003tyo.1_Splice_Site|MLXIPL_uc003typ.1_Splice_Site_p.S98_splice	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14						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			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGCTTGCCACTGTCAAAGGG	0.542													T	73030508	C	T	73030508	5	4	189	1	0	0	0	0	0	0	1	0	9637	579	20	4	2329	4	MLXIPL	7	73030508	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	138095	73030508	86108155	2011	99868											
RFC2	5982	broad.mit.edu	37	chr7	73646517	73646517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagagagttcactccttcCgctattttcatgtgagtgta	8	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:73646517C>T	uc003uaj.2	-	11	1009	c.984G>A	c.(982-984)GCG>GCA	p.A328A	RFC2_uc011kfa.1_RNA|RFC2_uc003uak.2_Silent_p.A294A|RFC2_uc010lbp.2_Silent_p.A257A|RFC2_uc003ual.2_Silent_p.A227A	NM_181471	NP_852136	P35250	RFC2_HUMAN	replication factor C 2 isoform 1	328					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			liver(1)|central_nervous_system(1)	2						TCACTCCTTCCGCTATTTTCA	0.433													T	73646517	C	T	73646517	2	4	189	1	0	0	0	0	0	0	0	1	13245	639	23	1		1	RFC2	7	73646517	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	616009	73646517	85492146	2012	99869											
POMZP3	22932	broad.mit.edu	37	chr7	76254925	76254925	+	Silent	SNP	T	T	C													ttctctttgagggcactcagTacagtctcctttgcacatgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:76254925T>C	uc003uft.2	-	3	888	c.141A>G	c.(139-141)GTA>GTG	p.V47V	uc003ufs.1_Intron|POMZP3_uc003ufu.2_Silent_p.V47V|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	POMZP3 fusion protein isoform 1	47											0		Myeloproliferative disorder(862;0.204)				GGGCACTCAGTACAGTCTCCT	0.448													C	76254925	T	C	76254925	2	2	189	1	0	0	0	0	0	0	0	1	12247	1625	57	3		3	POMZP3	7	76254925	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2608408	76254925	82883738	2013	99870	490	2									
POMZP3	22932	broad.mit.edu	37	chr7	76254929	76254929	+	Missense_Mutation	SNP	G	G	C													ctttgagggcactcagtacaGtctcctttgcacatgggtct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:76254929G>C	uc003uft.2	-	3	884	c.137C>G	c.(136-138)ACT>AGT	p.T46S	uc003ufs.1_Intron|POMZP3_uc003ufu.2_Missense_Mutation_p.T46S|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	POMZP3 fusion protein isoform 1	46											0		Myeloproliferative disorder(862;0.204)				ACTCAGTACAGTCTCCTTTGC	0.438													C	76254929	G	C	76254929	3	2	189	1	0	0	0	0	1	0	0	0	12247	1029	36	5	449	5	POMZP3	7	76254929	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4	76254929	82883734	2014	99871	490	2									
CCDC146	57639	broad.mit.edu	37	chr7	76883847	76883847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagaaaaaatcatcatAgtaaaagaatttgagaagat	8	2	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:76883847A>G	uc003uga.2	+	5	601	c.474A>G	c.(472-474)ATA>ATG	p.I158M		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	158										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAATCATCATAGTAAAAGAAT	0.269													G	76883847	A	G	76883847	3	3	189	1	0	0	0	0	1	0	0	0	2780	410	15	3	488	3	CCDC146	7	76883847	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	628918	76883847	82254816	2015	99872											
PION	54103	broad.mit.edu	37	chr7	76941475	76941475	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcgaaatgatgttagaActcataggatgatcccaaag	9	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:76941475A>G	uc003ugf.2	-	29	2395	c.2316T>C	c.(2314-2316)AGT>AGC	p.S772S	PION_uc011kgo.1_Silent_p.S93S|PION_uc003ugd.2_Silent_p.S166S	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	772					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						TGATGTTAGAACTCATAGGAT	0.373													G	76941475	A	G	76941475	2	3	189	1	0	0	0	0	0	0	0	1	11934	40	2	3		3	PION	7	76941475	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	57628	76941475	82197188	2016	99873											
PION	54103	broad.mit.edu	37	chr7	77035409	77035409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgtaagctctcataatcGttttctaaaacatctgaaat	4	8	3	1	rs144142632	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:77035409G>A	uc003ugf.2	-	2	202	c.123C>T	c.(121-123)AAC>AAT	p.N41N	PION_uc003ugg.1_Translation_Start_Site	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	41					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						TCTCATAATCGTTTTCTAAAA	0.214													A	77035409	G	A	77035409	2	1	189	1	0	0	0	0	0	0	0	1	11934	1136	40	1		1	PION	7	77035409	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	93934	77035409	82103254	2017	99874											
RSBN1L	222194	broad.mit.edu	37	chr7	77402579	77402579	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atataggacaaggttttgaaCgacagactacagctgctgtt	10	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:77402579C>T	uc010ldt.1	+	6	1785	c.1741C>T	c.(1741-1743)CGA>TGA	p.R581*	RSBN1L_uc003ugm.2_Nonsense_Mutation_p.R363*	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	581						nucleus				ovary(1)	1						AGGTTTTGAACGACAGACTAC	0.433													T	77402579	C	T	77402579	4	4	189	1	0	0	0	0	0	1	0	0	13697	528	19	1	1763	1	RSBN1L	7	77402579	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	367170	77402579	81736084	2018	99875											
MAGI2	9863	broad.mit.edu	37	chr7	77764526	77764526	+	Splice_Site	DEL	A	A	-													cgattttatggggcacagctAaaaaaaccccaacagaaata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:77764525_77764525TA>T	uc003ugx.3	-	17	3100	c.2846_splice	c.e17-1	p.T949_splice	MAGI2_uc003ugy.3_Splice_Site_p.T935_splice|MAGI2_uc010ldx.1_Splice_Site_p.T542_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	949	PDZ 5.					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)				GGGGCACAGCTAAAAAAACCC	0.458													-	77764526	A	-	77764526	8	5	189	1	0	1	0	1	0	0	1	0	9191	377	13	0		0	MAGI2	7	77764526	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	361947	77764526	81374137	2019	99876											
MAGI2	9863	broad.mit.edu	37	chr7	78119138	78119138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgtggatccagccatgAtgttgtctttgtgttatggc	12	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:78119138A>G	uc003ugx.2	-	6	1239	c.985T>C	c.(985-987)TCA>CCA	p.S329P	MAGI2_uc003ugy.2_Missense_Mutation_p.S329P|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Missense_Mutation_p.S161P|MAGI2_uc011kgs.1_Missense_Mutation_p.S166P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	329	WW 1.|Interaction with DDN.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCAGCCATGATGTTGTCTTT	0.368													G	78119138	A	G	78119138	3	3	189	1	0	0	0	0	1	0	0	0	9191	333	12	3	3450	3	MAGI2	7	78119138	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	354612	78119138	81019525	2020	99877											
HGF	3082	broad.mit.edu	37	chr7	81372722	81372723	+	Missense_Mutation	DNP	CA	CA	TG													tgtgagggtcaagagtatagCaccatggcctcggctggcca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:81372722_81372723CA>TG	uc003uhl.2	-	7	976_977	c.811_812TG>CA	c.(811-813)TGC>CAC	p.C271H	HGF_uc003uhm.2_Missense_Mutation_p.C266H|HGF_uc003uhn.1_Missense_Mutation_p.C271H|HGF_uc003uho.1_Missense_Mutation_p.C266H	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	271	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						AAGAGTATAGCACCATGGCCTC	0.47													TG	81372723	CA	TG	81372722	3	4	189	1	0	0	0	0	1	0	0	0	7085	710	25	2	1434	2	HGF	7	81372722	Missense_Mutation	DNP	CA	TCGA-CG-5721-01A-11D-1600-08	3253584	81372722	77765941	2021	99878											
HGF	3082	broad.mit.edu	37	chr7	81392115	81392115	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttttatcttcagtgctggAtctattttgattagggtagt	10	4	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:81392115A>T	uc003uhl.2	-	2	327	c.162T>A	c.(160-162)GAT>GAA	p.D54E	HGF_uc003uhm.2_Missense_Mutation_p.D54E|HGF_uc003uhn.1_Missense_Mutation_p.D54E|HGF_uc003uho.1_Missense_Mutation_p.D54E|HGF_uc003uhp.2_Missense_Mutation_p.D54E	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	54	PAN.				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			ovary(2)|central_nervous_system(2)	4						TCAGTGCTGGATCTATTTTGA	0.303													T	81392115	A	T	81392115	3	4	189	1	0	0	0	0	1	0	0	0	7085	330	12	5	2112	5	HGF	7	81392115	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	19393	81392115	77746548	2022	99879											
CACNA2D1	781	broad.mit.edu	37	chr7	81611899	81611899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccttggtgctatgaatgTatagccagattcttcaaaat	7	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:81611899T>C	uc003uhr.1	-	24	2195	c.1939A>G	c.(1939-1941)ACA>GCA	p.T647A		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	659	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTATGAATGTATAGCCAGAT	0.368													C	81611899	T	C	81611899	3	2	189	1	0	0	0	0	1	0	0	0	2548	1638	57	3	1400	3	CACNA2D1	7	81611899	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	219784	81611899	77526764	2023	99880											
CACNA2D1	781	broad.mit.edu	37	chr7	81643727	81643727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttgttacctttgttttcAcaggccatccactgaatagg	8	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:81643727A>G	uc003uhr.1	-	13	1468	c.1212T>C	c.(1210-1212)TGT>TGC	p.C404C	uc003uhs.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	404	Extracellular (Potential).|VWFA.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTTGTTTTCACAGGCCATCC	0.313													G	81643727	A	G	81643727	2	3	189	1	0	0	0	0	0	0	0	1	2548	157	6	3		3	CACNA2D1	7	81643727	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	31828	81643727	77494936	2024	99881											
PCLO	27445	broad.mit.edu	37	chr7	82453563	82453563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcctaccctttgatgggTcagggaagataccatggctt	10	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:82453563T>C	uc003uhx.2	-	19	14874	c.14585A>G	c.(14584-14586)GAC>GGC	p.D4862G	PCLO_uc003uhv.2_Missense_Mutation_p.D4862G|PCLO_uc003uht.1_Missense_Mutation_p.D304G|PCLO_uc003uhu.1_Missense_Mutation_p.D283G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4724	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTTGATGGGTCAGGGAAGAT	0.388													C	82453563	T	C	82453563	3	2	189	1	0	0	0	0	1	0	0	0	11583	1667	58	3	888	3	PCLO	7	82453563	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	809836	82453563	76685100	2025	99882											
PCLO	27445	broad.mit.edu	37	chr7	82584247	82584247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactctttctggaggtctgTaattttctgcataggatctt	8	7	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:82584247T>C	uc003uhx.2	-	5	6311	c.6022A>G	c.(6022-6024)ACA>GCA	p.T2008A	PCLO_uc003uhv.2_Missense_Mutation_p.T2008A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1939					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGGAGGTCTGTAATTTTCTGC	0.363													C	82584247	T	C	82584247	3	2	189	1	0	0	0	0	1	0	0	0	11583	1638	57	3	9507	3	PCLO	7	82584247	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	130684	82584247	76554416	2026	99883											
PCLO	27445	broad.mit.edu	37	chr7	82585531	82585531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaatctctttgagctggtTtctgatgaactcatcatctt	6	9	5	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:82585531T>C	uc003uhx.2	-	5	5027	c.4738A>G	c.(4738-4740)AAC>GAC	p.N1580D	PCLO_uc003uhv.2_Missense_Mutation_p.N1580D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1511					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTGAGCTGGTTTCTGATGAAC	0.433													C	82585531	T	C	82585531	3	2	189	1	0	0	0	0	1	0	0	0	11583	1841	64	3	10791	3	PCLO	7	82585531	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1284	82585531	76553132	2027	99884											
SEMA3E	9723	broad.mit.edu	37	chr7	83095872	83095872	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accacaggtcagaaggtgtgTcctgttatagtgatgcaaaa	11	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:83095872T>A	uc003uhy.1	-	4	848	c.382A>T	c.(382-384)ACA>TCA	p.T128S		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	128	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				AGAAGGTGTGTCCTGTTATAG	0.398													A	83095872	T	A	83095872	3	1	189	1	0	0	0	0	1	0	0	0	14028	1667	58	5	2001	5	SEMA3E	7	83095872	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	510341	83095872	76042791	2028	99885											
SEMA3D	223117	broad.mit.edu	37	chr7	84649547	84649547	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcactctggactgagtcttAccttgaatatctgcaactcc	8	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:84649547A>G	uc003uic.2	-	12	1543	c.1503_splice	c.e12+1	p.K501_splice	SEMA3D_uc010led.2_Splice_Site_p.K501_splice|SEMA3D_uc003uib.2_Splice_Site_p.K140_splice	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						ACTGAGTCTTACCTTGAATAT	0.413													G	84649547	A	G	84649547	5	3	189	1	0	0	0	0	0	0	1	0	14027	405	14	3	852	3	SEMA3D	7	84649547	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1553675	84649547	74489116	2029	99886											
GRM3	2913	broad.mit.edu	37	chr7	86469092	86469092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcttatgcactgtgtaCgccttcaaaacgcggaagtg	11	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:86469092C>T	uc003uid.2	+	4	3361	c.2262C>T	c.(2260-2262)TAC>TAT	p.Y754Y	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.Y626Y|GRM3_uc010leh.2_Silent_p.Y346Y	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	754	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCACTGTGTACGCCTTCAAAA	0.448													T	86469092	C	T	86469092	2	4	189	1	0	0	0	0	0	0	0	1	6798	547	19	1		1	GRM3	7	86469092	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1819545	86469092	72669571	2030	99887											
DMTF1	9988	broad.mit.edu	37	chr7	86813838	86813838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgaacgagtcggtaccCgctcagaaaagcaatgtcgt	12	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:86813838C>T	uc003uih.2	+	11	1272	c.946C>T	c.(946-948)CGC>TGC	p.R316C	DMTF1_uc003uii.2_Missense_Mutation_p.R50C|DMTF1_uc003uij.2_Missense_Mutation_p.R50C|DMTF1_uc011khb.1_Missense_Mutation_p.R228C|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.R316C|DMTF1_uc003uin.2_Missense_Mutation_p.R50C	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	316	H-T-H motif (By similarity).|Interaction with CCND1, CCND2 and CCND3 (By similarity).|HTH myb-type.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AGTCGGTACCCGCTCAGAAAA	0.488													T	86813838	C	T	86813838	3	4	189	1	0	0	0	0	1	0	0	0	4592	652	23	1	980	1	DMTF1	7	86813838	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	344746	86813838	72324825	2031	99888											
DMTF1	9988	broad.mit.edu	37	chr7	86817425	86817425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttaataaaaggtcttAaacagttacatgagaaccaa	6	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:86817425A>G	uc003uih.2	+	13	1545	c.1219A>G	c.(1219-1221)AAA>GAA	p.K407E	DMTF1_uc003uii.2_Missense_Mutation_p.K141E|DMTF1_uc003uij.2_Missense_Mutation_p.K141E|DMTF1_uc011khb.1_Missense_Mutation_p.K319E|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.K407E|DMTF1_uc003uin.2_Missense_Mutation_p.K141E	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	407	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AAAAGGTCTTAAACAGTTACA	0.423													G	86817425	A	G	86817425	3	3	189	1	0	0	0	0	1	0	0	0	4592	363	13	3	1261	3	DMTF1	7	86817425	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3587	86817425	72321238	2032	99889											
CROT	54677	broad.mit.edu	37	chr7	86990750	86990750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctatctggatgttcgtatAccatcacaattgaatgtcaa	7	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:86990750A>G	uc003uit.2	+	5	530	c.285A>G	c.(283-285)ATA>ATG	p.I95M	CROT_uc003uiu.2_Missense_Mutation_p.I123M	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	95					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATGTTCGTATACCATCACAAT	0.403													G	86990750	A	G	86990750	3	3	189	1	0	0	0	0	1	0	0	0	3894	381	14	3	383	3	CROT	7	86990750	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	173325	86990750	72147913	2033	99890											
ABCB4	5244	broad.mit.edu	37	chr7	87092227	87092227	+	Splice_Site	DEL	A	A	-													ccaatcggagtatcgaaactAaaaaaaggaaataaaataat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:87092226_87092226TA>T	uc003uiv.1	-	4	212	c.136_splice	c.e4-1	p.F46_splice	ABCB4_uc003uiw.1_Splice_Site_p.F46_splice|ABCB4_uc003uix.1_Splice_Site_p.F46_splice|ABCB4_uc003uiy.3_Splice_Site_p.F46_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	46					cellular lipid metabolic process	Golgi membrane|apical plasma 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)					GTATCGAAACTAAAAAAAGGA	0.343													-	87092227	A	-	87092227	8	5	189	1	0	1	0	1	0	0	1	0	43	377	13	0		0	ABCB4	7	87092227	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	101477	87092227	72046436	2034	99891											
ABCB4	5244	broad.mit.edu	37	chr7	87101978	87101978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgtcttcgttttttTccttttttgtttgctgtaaa	5	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:87101978T>C	uc003uiv.1	-	3	170	c.94A>G	c.(94-96)AAA>GAA	p.K32E	ABCB4_uc003uiw.1_Missense_Mutation_p.K32E|ABCB4_uc003uix.1_Missense_Mutation_p.K32E|ABCB4_uc003uiy.2_Missense_Mutation_p.K32E	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	32	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCGTTTTTTTCCTTTTTTGT	0.254													C	87101978	T	C	87101978	3	2	189	1	0	0	0	0	1	0	0	0	43	1792	62	3	3870	3	ABCB4	7	87101978	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9751	87101978	72036685	2035	99892											
ZNF804B	219578	broad.mit.edu	37	chr7	88964603	88964603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttgtctgatgatatAacaaagagcagccaaatgca	7	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:88964603A>G	uc011khi.1	+	4	2845	c.2307A>G	c.(2305-2307)ATA>ATG	p.I769M		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	769						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGATGATATAACAAAGAGCA	0.378										HNSCC(36;0.09)			G	88964603	A	G	88964603	3	3	189	1	0	0	0	0	1	0	0	0	18168	352	13	3	2321	3	ZNF804B	7	88964603	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1862625	88964603	70174060	2036	99893											
FZD1	8321	broad.mit.edu	37	chr7	90895582	90895582	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaagaccatcaccatcCtggcgctgggccaggtggac	11	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:90895582C>G	uc003ula.2	+	1	1800	c.1387C>G	c.(1387-1389)CTG>GTG	p.L463V		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	463	Helical; Name=4; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CATCACCATCCTGGCGCTGGG	0.647													G	90895582	C	G	90895582	3	3	189	1	0	0	0	0	1	0	0	0	6128	680	24	5	1389	5	FZD1	7	90895582	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1930979	90895582	68243081	2037	99894											
FZD1	8321	broad.mit.edu	37	chr7	90895892	90895892	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttccgggaccagtgggAacgcagctgggtggcccaga	17	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:90895892A>C	uc003ula.2	+	1	2110	c.1697A>C	c.(1696-1698)GAA>GCA	p.E566A		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	566	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GACCAGTGGGAACGCAGCTGG	0.672													C	90895892	A	C	90895892	3	2	189	1	0	0	0	0	1	0	0	0	6128	246	9	5	1699	5	FZD1	7	90895892	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	310	90895892	68242771	2038	99895											
AKAP9	10142	broad.mit.edu	37	chr7	91630524	91630524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacaaagaaagttagaAcaactccgggcagagctgga	11	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:91630524A>G	uc003ulg.2	+	8	1518	c.1293A>G	c.(1291-1293)GAA>GAG	p.E431E	AKAP9_uc003ule.2_Silent_p.E443E|AKAP9_uc003ulf.2_Silent_p.E431E|AKAP9_uc003uli.2_Silent_p.E56E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	443	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			GAAAGTTAGAACAACTCCGGG	0.403			T	BRAF	papillary thyroid								G	91630524	A	G	91630524	2	3	189	1	0	0	0	0	0	0	0	1	459	40	2	3		3	AKAP9	7	91630524	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	734632	91630524	67508139	2039	99896											
AKAP9	10142	broad.mit.edu	37	chr7	91709345	91709345	+	Frame_Shift_Del	DEL	A	A	-													agaacaagtagaaattgcagAaaaaaatgttttagaaaaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:91709344_91709344GA>G	uc003ulg.3	+	30	8122	c.7897_7897GA>G	c.(7897-7899)gaafs	p.E2633fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.E2625fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.E2256fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.E403fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2645	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.T2632S(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAATTGCAGAAAAAAATGT	0.323			T	BRAF	papillary thyroid								-	91709345	A	-	91709345	7	5	189	1	0	1	0	1	0	0	0	0	459	246	9	0	8020	0	AKAP9	7	91709345	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	78821	91709345	67429318	2040	99897											
CYP51A1	1595	broad.mit.edu	37	chr7	91747922	91747922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcgatcaagtaaatttagaTccttgagctaaaatgagaaa	8	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:91747922T>A	uc003ulm.3	-	8	1256	c.1094A>T	c.(1093-1095)GAT>GTT	p.D365V	CYP51A1_uc011khn.1_Missense_Mutation_p.D260V|CYP51A1_uc003uln.3_Missense_Mutation_p.D302V	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	359					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	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)	TAAATTTAGATCCTTGAGCTA	0.323													A	91747922	T	A	91747922	3	1	189	1	0	0	0	0	1	0	0	0	4195	1435	50	5	447	5	CYP51A1	7	91747922	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	38577	91747922	67390741	2041	99898											
CDK6	1021	broad.mit.edu	37	chr7	92247394	92247394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaacttaccagaagtaGgtctttgcctagttcatcga	8	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:92247394G>A	uc011khw.1	-	7	1238	c.826C>T	c.(826-828)CTA>TTA	p.L276L	CDK6_uc010lez.2_Silent_p.L276L	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	276	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)|skin(1)	2	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)			ACCAGAAGTAGGTCTTTGCCT	0.473			T	MLLT10	ALL								A	92247394	G	A	92247394	2	1	189	1	0	0	0	0	0	0	0	1	3148	991	35	4		4	CDK6	7	92247394	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	499472	92247394	66891269	2042	99899											
CDK6	1021	broad.mit.edu	37	chr7	92462455	92462455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcctcagcaccgccacCtcgcggatggtggagagcgg	16	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:92462455C>T	uc011khw.1	-	2	595	c.183G>A	c.(181-183)GAG>GAA	p.E61E	CDK6_uc010lez.2_Silent_p.E61E	NM_001259	NP_001250	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	61	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)|skin(1)	2	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)			GCACCGCCACCTCGCGGATGG	0.701			T	MLLT10	ALL								T	92462455	C	T	92462455	2	4	189	1	0	0	0	0	0	0	0	1	3148	680	24	4		4	CDK6	7	92462455	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	215061	92462455	66676208	2043	99900											
SAMD9L	219285	broad.mit.edu	37	chr7	92760647	92760647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaataaacagatattactggTatttttattttttcctctgt	5	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:92760647T>C	uc003umh.1	-	5	5854	c.4638A>G	c.(4636-4638)ATA>ATG	p.I1546M	SAMD9L_uc003umj.1_Missense_Mutation_p.I1546M|SAMD9L_uc003umi.1_Missense_Mutation_p.I1546M|SAMD9L_uc010lfb.1_Missense_Mutation_p.I1546M|SAMD9L_uc003umk.1_Missense_Mutation_p.I1546M|SAMD9L_uc010lfc.1_Missense_Mutation_p.I1546M|SAMD9L_uc010lfd.1_Missense_Mutation_p.I1546M|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1546										ovary(4)	4	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)			ATATTACTGGTATTTTTATTT	0.403													C	92760647	T	C	92760647	3	2	189	1	0	0	0	0	1	0	0	0	13827	1628	57	3	120	3	SAMD9L	7	92760647	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	298192	92760647	66378016	2044	99901											
COL1A2	1278	broad.mit.edu	37	chr7	94056542	94056542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggaaaagatggtcgcActggacatcctggtacagtt	12	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:94056542A>G	uc003ung.1	+	48	3673	c.3202A>G	c.(3202-3204)ACT>GCT	p.T1068A	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1068					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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGATGGTCGCACTGGACATCC	0.537										HNSCC(75;0.22)			G	94056542	A	G	94056542	3	3	189	1	0	0	0	0	1	0	0	0	3678	159	6	3	3392	3	COL1A2	7	94056542	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1295895	94056542	65082121	2045	99902											
CASD1	64921	broad.mit.edu	37	chr7	94174901	94174901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtggtgttatgtatagtAatggatcgaccttatcaatt	10	4	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:94174901A>G	uc003uni.3	+	12	1748	c.1521A>G	c.(1519-1521)GTA>GTG	p.V507V	CASD1_uc003unj.3_Silent_p.V507V	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	507	Helical; (Potential).					integral to membrane				ovary(2)	2	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)			TATGTATAGTAATGGATCGAC	0.338													G	94174901	A	G	94174901	2	3	189	1	0	0	0	0	0	0	0	1	2664	349	13	3		3	CASD1	7	94174901	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	118359	94174901	64963762	2046	99903											
PEG10	23089	broad.mit.edu	37	chr7	94293419	94293419	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggggtctgtcatcgactActccaatgctttccagatga	9	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:94293419A>G	uc011kie.1	+	2	996	c.779A>G	c.(778-780)TAC>TGC	p.Y260C		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	184	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	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)			GTCATCGACTACTCCAATGCT	0.547													G	94293419	A	G	94293419	3	3	189	1	0	0	0	0	1	0	0	0	11719	391	14	3	785	3	PEG10	7	94293419	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	118518	94293419	64845244	2047	99904											
PON2	5445	broad.mit.edu	37	chr7	95034793	95034793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatagaatgttctggatgCggagaacctattcaggggat	13	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:95034793C>T	uc003unv.2	-	9	1035	c.914G>A	c.(913-915)CGC>CAC	p.R305H	PON2_uc003unu.2_Missense_Mutation_p.R293H|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.R218H	NM_000305	NP_000296	Q15165	PON2_HUMAN	paraoxonase 2 isoform 1	305					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCTGGATGCGGAGAACCTA	0.433													T	95034793	C	T	95034793	3	4	189	1	0	0	0	0	1	0	0	0	12249	768	27	1	154	1	PON2	7	95034793	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	741374	95034793	64103870	2048	99905											
DYNC1I1	1780	broad.mit.edu	37	chr7	95665019	95665019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgtcaataacttcgtggTtggcagtgaggaaggtacag	14	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:95665019T>C	uc003uoc.3	+	13	1647	c.1370T>C	c.(1369-1371)GTT>GCT	p.V457A	DYNC1I1_uc003uod.3_Missense_Mutation_p.V440A|DYNC1I1_uc003uob.2_Missense_Mutation_p.V420A|DYNC1I1_uc003uoe.3_Missense_Mutation_p.V437A|DYNC1I1_uc010lfl.2_Missense_Mutation_p.V446A	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	457	WD 4.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	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)			AACTTCGTGGTTGGCAGTGAG	0.463													C	95665019	T	C	95665019	3	2	189	1	0	0	0	0	1	0	0	0	4842	1725	60	3	1416	3	DYNC1I1	7	95665019	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	630226	95665019	63473644	2049	99906											
SLC25A13	10165	broad.mit.edu	37	chr7	95750584	95750584	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtccaaatttgttttcaatCcctgcaaatgtagcaactgc	6	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:95750584C>A	uc003uof.3	-	18	2138	c.1947G>T	c.(1945-1947)GGG>GGT	p.G649G	SLC25A13_uc003uog.3_Silent_p.G650G|SLC25A13_uc011kik.1_Silent_p.G541G	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	649					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			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGTTTTCAATCCCTGCAAATG	0.493													A	95750584	C	A	95750584	2	1	189	1	0	0	0	0	0	0	0	1	14475	842	30	5		5	SLC25A13	7	95750584	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	85565	95750584	63388079	2050	99907											
DLX6	1750	broad.mit.edu	37	chr7	96639185	96639185	+	Frame_Shift_Del	DEL	C	C	-													agtaatcctcatgagagcgaCcccctccagggctcggcggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:96639184_96639184AC>A	uc022ahu.1	+	2	707	c.707_707AC>A	c.(706-708)gacfs	p.D236fs	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	118					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)					CATGAGAGCGACCCCCTCCAG	0.562													-	96639185	C	-	96639185	7	5	189	1	0	1	0	1	0	0	0	0	4575	506	18	0	718	0	DLX6	7	96639185	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	888601	96639185	62499478	2051	99908											
LMTK2	22853	broad.mit.edu	37	chr7	97821801	97821801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaagttccagtttggataAccccaaagagtcagtcataa	7	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:97821801A>G	uc003upd.1	+	11	2317	c.2024A>G	c.(2023-2025)AAC>AGC	p.N675S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	675					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					AGTTTGGATAACCCCAAAGAG	0.413													G	97821801	A	G	97821801	3	3	189	1	0	0	0	0	1	0	0	0	8859	43	2	3	2066	3	LMTK2	7	97821801	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1182616	97821801	61316862	2052	99909											
TRRAP	8295	broad.mit.edu	37	chr7	98506451	98506451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagctcttcgccaagaacAtcgacgatgagtccctgccc	8	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:98506451A>G	uc003upp.2	+	14	1425	c.1216A>G	c.(1216-1218)ATC>GTC	p.I406V	TRRAP_uc011kis.1_Missense_Mutation_p.I406V|TRRAP_uc003upr.2_Missense_Mutation_p.I98V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	406					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			CGCCAAGAACATCGACGATGA	0.642													G	98506451	A	G	98506451	3	3	189	1	0	0	0	0	1	0	0	0	16598	217	8	3	1266	3	TRRAP	7	98506451	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	684650	98506451	60632212	2053	99910											
PDAP1	11333	broad.mit.edu	37	chr7	99002549	99002549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcttgtatactgcctcGcccggcctttgtggcctccc	11	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:99002549G>A	uc003uqe.2	-	2	162	c.41C>T	c.(40-42)GCG>GTG	p.A14V		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation|signal transduction						0	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)	ATACTGCCTCGCCCGGCCTTT	0.632													A	99002549	G	A	99002549	3	1	189	1	0	0	0	0	1	0	0	0	11613	1087	38	1	524	1	PDAP1	7	99002549	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	496098	99002549	60136114	2054	99911											
ZNF789	285989	broad.mit.edu	37	chr7	99084556	99084556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagccttcagacagcgGtcagctcttacggtccataa	11	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:99084556G>A	uc003uqq.1	+	5	942	c.723G>A	c.(721-723)CGG>CGA	p.R241R	ZNF789_uc010lfw.1_Silent_p.R146R|ZNF789_uc003uqr.1_Silent_p.R183R	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	241	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)					TCAGACAGCGGTCAGCTCTTA	0.443													A	99084556	G	A	99084556	2	1	189	1	0	0	0	0	0	0	0	1	18157	1248	44	4		4	ZNF789	7	99084556	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	82007	99084556	60054107	2055	99912											
ZNF394	84124	broad.mit.edu	37	chr7	99091161	99091161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctgggattataggcgTgagccaccacgcccagccga	13	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:99091161T>C	uc003uqs.2	-	3	1838	c.1677A>G	c.(1675-1677)TCA>TCG	p.S559S	ZNF394_uc003uqt.2_Silent_p.S352S	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	559					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)					attataggcgtgagccaccac	0.149													C	99091161	T	C	99091161	2	2	189	1	0	0	0	0	0	0	0	1	17877	1683	59	3		3	ZNF394	7	99091161	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6605	99091161	60047502	2056	99913											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129418	99129419	+	Frame_Shift_Ins	INS	-	-	A													cacatgggtcagaaaaatgaINSaaaaaatggcatctgtgagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:99129417_99129418G>GA	uc003uqv.3	+	6	2189_2190	c.2065_2066G>GA	c.(2065-2067)gaafs	p.E689fs	ZKSCAN5_uc010lfx.3_Frame_Shift_Ins_p.E689fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Ins_p.E689fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Ins_p.E616fs|ZKSCAN5_uc003uqy.3_Frame_Shift_Ins_p.E425fs	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	689					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)					TCAGAAAAATGAAAAAAATGGC	0.411													A	99129419	-	A	99129418	7	5	189	1	0	1	1	0	0	0	0	0	17687	246	9	0	2088	0	ZKSCAN5	7	99129418	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	38257	99129418	60009245	2057	99914											
CYP3A43	64816	broad.mit.edu	37	chr7	99441821	99441821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatcccgacatgatcaaaAcagtgttagtgaaagaatgt	10	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:99441821A>G	uc003urx.1	+	4	377	c.274A>G	c.(274-276)ACA>GCA	p.T92A	CYP3A43_uc003ury.1_Missense_Mutation_p.T92A|CYP3A43_uc003urz.1_Missense_Mutation_p.T92A|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Intron	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	92			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CATGATCAAAACAGTGTTAGT	0.378													G	99441821	A	G	99441821	3	3	189	1	0	0	0	0	1	0	0	0	4179	43	2	3	288	3	CYP3A43	7	99441821	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	312403	99441821	59696842	2058	99915											
TAF6	6878	broad.mit.edu	37	chr7	99707849	99707849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagctcagccaagcctgCgatggagccataacgagtcg	11	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:99707849C>T	uc003uti.2	-	11	1213	c.1132G>A	c.(1132-1134)GCA>ACA	p.A378T	AP4M1_uc003utd.2_3'UTR|TAF6_uc003utg.2_Missense_Mutation_p.A300T|TAF6_uc003uth.2_Missense_Mutation_p.A435T|TAF6_uc003utk.2_Missense_Mutation_p.A378T|TAF6_uc011kji.1_Missense_Mutation_p.A415T|TAF6_uc003utj.2_Missense_Mutation_p.A368T|TAF6_uc003utl.2_Missense_Mutation_p.A378T|TAF6_uc003utm.2_Missense_Mutation_p.A378T|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	378					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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAAGCCTGCGATGGAGCCA	0.537													T	99707849	C	T	99707849	3	4	189	1	0	0	0	0	1	0	0	0	15527	768	27	1	921	1	TAF6	7	99707849	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	266028	99707849	59430814	2059	99916											
STAG3	10734	broad.mit.edu	37	chr7	99779803	99779803	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcagcaaaacgaccaccGaaaacaacaccggtgagtca	9	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:99779803G>A	uc003utx.1	+	3	362	c.207G>A	c.(205-207)CCG>CCA	p.P69P	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Silent_p.P69P	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	69					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACGACCACCGAAAACAACAC	0.358													A	99779803	G	A	99779803	2	1	189	1	0	0	0	0	0	0	0	1	15243	1045	37	1		1	STAG3	7	99779803	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	71954	99779803	59358860	2060	99917											
ACTL6B	51412	broad.mit.edu	37	chr7	100245131	100245131	+	Frame_Shift_Del	DEL	G	G	-													tctccttcttcttccagtttGggggggcaccctcccggaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:100245130_100245130TG>T	uc003uvy.3	-	7	803	c.696_696CA>A	c.(694-696)ccafs	p.P232fs	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	232					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF 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)					TCTTCCAGTTTGGGGGGGCAC	0.607													-	100245131	G	-	100245131	7	5	189	1	0	1	0	1	0	0	0	0	199	1348	47	0	613	0	ACTL6B	7	100245131	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	465328	100245131	58893532	2061	99918											
ZAN	7455	broad.mit.edu	37	chr7	100345207	100345207	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacactctcttctcaggacaAcctgggcccaactggcaggc	9	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:100345207A>G	uc003uwj.2	+	9	1131	c.966A>G	c.(964-966)CAA>CAG	p.Q322Q	ZAN_uc003uwk.2_Silent_p.Q322Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	322	MAM 2.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCTCAGGACAACCTGGGCCCA	0.517													G	100345207	A	G	100345207	2	3	189	1	0	0	0	0	0	0	0	1	17510	40	2	3		3	ZAN	7	100345207	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	100076	100345207	58793456	2062	99919											
SLC12A9	56996	broad.mit.edu	37	chr7	100459368	100459368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatacccaggtgcgtaagTatctgcttcggctggacgtc	11	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:100459368T>C	uc003uwp.2	+	12	1688	c.1546T>C	c.(1546-1548)TAT>CAT	p.Y516H	SLC12A9_uc003uwq.2_Missense_Mutation_p.Y427H|SLC12A9_uc011kki.1_Missense_Mutation_p.Y47H|SLC12A9_uc003uwr.2_Missense_Mutation_p.Y252H|SLC12A9_uc003uws.2_Missense_Mutation_p.Y47H|SLC12A9_uc003uwt.2_Missense_Mutation_p.Y252H|SLC12A9_uc003uwv.2_Missense_Mutation_p.Y47H	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	516	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGCGTAAGTATCTGCTTCG	0.652													C	100459368	T	C	100459368	3	2	189	1	0	0	0	0	1	0	0	0	14390	1638	57	3	1588	3	SLC12A9	7	100459368	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	114161	100459368	58679295	2063	99920											
SLC12A9	56996	broad.mit.edu	37	chr7	100463584	100463584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagaatgtggtgctggcccGggccagcggggccttgcccc	16	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:100463584G>T	uc003uwp.2	+	14	2244	c.2102G>T	c.(2101-2103)CGG>CTG	p.R701L	SLC12A9_uc011kki.1_Missense_Mutation_p.R232L|SLC12A9_uc003uwr.2_Missense_Mutation_p.R437L|SLC12A9_uc003uws.2_Missense_Mutation_p.R232L|SLC12A9_uc003uwt.2_Missense_Mutation_p.R437L|SLC12A9_uc003uwv.2_Missense_Mutation_p.R232L|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	701	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGCTGGCCCGGGCCAGCGGG	0.711													T	100463584	G	T	100463584	3	4	189	1	0	0	0	0	1	0	0	0	14390	1116	39	5	2152	5	SLC12A9	7	100463584	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4216	100463584	58675079	2064	99921											
TRIP6	7205	broad.mit.edu	37	chr7	100468291	100468291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgctttgtatgttctAcatgccgggcccagcttcgc	12	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:100468291A>G	uc003uww.2	+	6	1095	c.925A>G	c.(925-927)ACA>GCA	p.T309A	TRIP6_uc010lhk.1_RNA	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	309	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			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGTATGTTCTACATGCCGGGC	0.627													G	100468291	A	G	100468291	3	3	189	1	0	0	0	0	1	0	0	0	16556	391	14	3	947	3	TRIP6	7	100468291	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4707	100468291	58670372	2065	99922											
SRRT	51593	broad.mit.edu	37	chr7	100482368	100482368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttaccataggctgagaAtgacagttctaatgatgaca	8	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:100482368A>G	uc003uwy.2	+	9	1218	c.950A>G	c.(949-951)AAT>AGT	p.N317S	SRRT_uc010lhl.1_Missense_Mutation_p.N317S|SRRT_uc003uxa.2_Missense_Mutation_p.N317S|SRRT_uc003uwz.2_Missense_Mutation_p.N317S	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	317	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TAGGCTGAGAATGACAGTTCT	0.507													G	100482368	A	G	100482368	3	3	189	1	0	0	0	0	1	0	0	0	15171	101	4	3	976	3	SRRT	7	100482368	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14077	100482368	58656295	2066	99923											
MUC17	140453	broad.mit.edu	37	chr7	100676723	100676723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctacaactgcggaaggtAccagcatgccaacctcaact	7	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:100676723A>G	uc003uxp.1	+	3	2079	c.2026A>G	c.(2026-2028)ACC>GCC	p.T676A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	676	Extracellular (Potential).|9.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCGGAAGGTACCAGCATGCC	0.493													G	100676723	A	G	100676723	3	3	189	1	0	0	0	0	1	0	0	0	9974	391	14	3	2036	3	MUC17	7	100676723	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	194355	100676723	58461940	2067	99924											
CUX1	1523	broad.mit.edu	37	chr7	101925200	101925200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacactgttcctgcactgCctggtcttcctggtgagtgt	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:101925200C>T	uc003uyt.2	+	21	1909	c.1890C>T	c.(1888-1890)TGC>TGT	p.C630C	CUX1_uc011kkn.1_Silent_p.C591C|CUX1_uc003uyw.2_Silent_p.C584C|CUX1_uc003uyv.2_Silent_p.C614C|CUX1_uc003uyu.2_Silent_p.C628C|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:Variant_position_missing_in_P39880_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TCCTGCACTGCCTGGTCTTCC	0.642													T	101925200	C	T	101925200	2	4	189	1	0	0	0	0	0	0	0	1	4064	747	26	2		2	CUX1	7	101925200	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1248477	101925200	57213463	2068	99925											
LRWD1	222229	broad.mit.edu	37	chr7	102113440	102113440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccaatgcctccttcAcctacctcaccgccctgacg	8	18	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:102113440A>G	uc003uzn.2	+	15	2026	c.1888A>G	c.(1888-1890)ACC>GCC	p.T630A	LRWD1_uc003uzo.2_Missense_Mutation_p.T478A	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	630	WD 5.				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			skin(1)	1						TGCCTCCTTCACCTACCTCAC	0.592													G	102113440	A	G	102113440	3	3	189	1	0	0	0	0	1	0	0	0	9047	159	6	3	1946	3	LRWD1	7	102113440	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	188240	102113440	57025223	2069	99926											
LRRC17	10234	broad.mit.edu	37	chr7	102574928	102574928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accggaatttggggaactacGccaagtgtgaaagtccacaa	11	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:102574928G>T	uc003vau.2	+	2	957	c.568G>T	c.(568-570)GCC>TCC	p.A190S	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.A190S	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	190	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						GGGGAACTACGCCAAGTGTGA	0.413													T	102574928	G	T	102574928	3	4	189	1	0	0	0	0	1	0	0	0	8973	1087	38	5	570	5	LRRC17	7	102574928	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	461488	102574928	56563735	2070	99927											
FBXL13	222235	broad.mit.edu	37	chr7	102669859	102669859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcttttatcatcaattccgGagtcatctaaagtaaataaa	6	7	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:102669859G>A	uc003vaq.2	-	3	434	c.7C>T	c.(7-9)CCG>TCG	p.P3S	FBXL13_uc010lir.1_Missense_Mutation_p.P3S|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.P3S|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	3											0						ATCAATTCCGGAGTCATCTAA	0.303													A	102669859	G	A	102669859	3	1	189	1	0	0	0	0	1	0	0	0	5709	1174	41	4	2272	4	FBXL13	7	102669859	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	94931	102669859	56468804	2071	99928											
ARMC10	83787	broad.mit.edu	37	chr7	102738781	102738781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccctttatgacagccaCgtagcaaaggagattcttct	7	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:102738781C>T	uc003vaw.1	+	7	1205	c.813C>T	c.(811-813)CAC>CAT	p.H271H	ARMC10_uc003vay.1_Silent_p.H212H|ARMC10_uc003vax.1_Silent_p.H236H|ARMC10_uc003vbb.1_Silent_p.H177H|ARMC10_uc011kli.1_Silent_p.H212H|ARMC10_uc010lis.1_Silent_p.H153H|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Silent_p.H149H	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	SVH protein isoform a	271					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	p.H271Y(1)		ovary(1)	1						ATGACAGCCACGTAGCAAAGG	0.328													T	102738781	C	T	102738781	2	4	189	1	0	0	0	0	0	0	0	1	950	535	19	1		1	ARMC10	7	102738781	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	68922	102738781	56399882	2072	99929											
DNAJC2	27000	broad.mit.edu	37	chr7	102963071	102963071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatccttggatcacagctgtAtgcattgtctagcaaaagaa	8	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:102963071A>G	uc003vbo.2	-	9	1071	c.820T>C	c.(820-822)TAC>CAC	p.Y274H	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.Y274H|DNAJC2_uc003vbp.2_5'UTR	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	274					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TCACAGCTGTATGCATTGTCT	0.194													G	102963071	A	G	102963071	3	3	189	1	0	0	0	0	1	0	0	0	4639	449	16	3	1081	3	DNAJC2	7	102963071	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	224290	102963071	56175592	2073	99930											
SLC26A5	375611	broad.mit.edu	37	chr7	103029793	103029793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccagctctattttgctggTtctccagaaaaaggggagat	10	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:103029793T>C	uc003vbz.2	-	13	1626	c.1390A>G	c.(1390-1392)ACC>GCC	p.T464A	SLC26A5_uc003vbt.1_Missense_Mutation_p.T464A|SLC26A5_uc003vbu.1_Missense_Mutation_p.T464A|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Intron|SLC26A5_uc003vby.2_Intron|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	464	Extracellular (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						ATTTTGCTGGTTCTCCAGAAA	0.413													C	103029793	T	C	103029793	3	2	189	1	0	0	0	0	1	0	0	0	14520	1725	60	3	917	3	SLC26A5	7	103029793	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	66722	103029793	56108870	2074	99931											
SLC26A5	375611	broad.mit.edu	37	chr7	103033447	103033447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaaaatccaacgatggcTatggcaatggcatctacgta	9	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:103033447T>C	uc003vbz.2	-	10	1274	c.1038A>G	c.(1036-1038)ATA>ATG	p.I346M	SLC26A5_uc003vbt.1_Missense_Mutation_p.I346M|SLC26A5_uc003vbu.1_Missense_Mutation_p.I346M|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Intron|SLC26A5_uc003vbx.2_Missense_Mutation_p.I346M|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	346	Helical; Name=8; (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CAACGATGGCTATGGCAATGG	0.478													C	103033447	T	C	103033447	3	2	189	1	0	0	0	0	1	0	0	0	14520	1512	53	3	1281	3	SLC26A5	7	103033447	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3654	103033447	56105216	2075	99932											
RELN	5649	broad.mit.edu	37	chr7	103179593	103179593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggaatcctcattcacgGcaacgtctgtgctgaccacg	11	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:103179593G>A	uc003vca.2	-	45	7272	c.7112C>T	c.(7111-7113)GCC>GTC	p.A2371V	RELN_uc010liz.2_Missense_Mutation_p.A2371V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2371					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCATTCACGGCAACGTCTGT	0.547													A	103179593	G	A	103179593	3	1	189	1	0	0	0	0	1	0	0	0	13220	1203	42	2	3354	2	RELN	7	103179593	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	146146	103179593	55959070	2076	99933											
MLL5	55904	broad.mit.edu	37	chr7	104707256	104707256	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacgttgtcagcctaggTaagttgcacatatctgataa	10	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:104707256T>C	uc003vcm.2	+	6	1031	c.497_splice	c.e6+2	p.R166_splice	MLL5_uc010lja.1_Splice_Site_p.R20_splice|MLL5_uc010ljb.1_Splice_Site_p.R166_splice|MLL5_uc003vcl.2_Splice_Site_p.R166_splice|MLL5_uc010ljc.2_Splice_Site_p.R166_splice	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5						cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TCAGCCTAGGTAAGTTGCACA	0.333													C	104707256	T	C	104707256	5	2	189	1	0	0	0	0	0	0	1	0	9624	1652	57	3	513	3	MLL5	7	104707256	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1527663	104707256	54431407	2077	99934											
SRPK2	6733	broad.mit.edu	37	chr7	104773245	104773245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgtccttaccatacacGccgtgctccagatgtccgca	8	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:104773245G>A	uc003vct.2	-	12	1899	c.1712C>T	c.(1711-1713)GCG>GTG	p.A571V	SRPK2_uc003vcu.2_Missense_Mutation_p.A571V|SRPK2_uc003vcv.2_Missense_Mutation_p.A582V|SRPK2_uc003vcs.1_RNA	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	571	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TACCATACACGCCGTGCTCCA	0.557													A	104773245	G	A	104773245	3	1	189	1	0	0	0	0	1	0	0	0	15159	1087	38	1	370	1	SRPK2	7	104773245	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	65989	104773245	54365418	2078	99935											
SRPK2	6733	broad.mit.edu	37	chr7	104782498	104782498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaaaccgttctgctTctgtcatgggatggactgct	13	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:104782498T>C	uc003vct.2	-	10	1654	c.1467A>G	c.(1465-1467)AGA>AGG	p.R489R	SRPK2_uc003vcu.2_Silent_p.R489R|SRPK2_uc003vcv.2_Silent_p.R500R|SRPK2_uc003vcw.1_Silent_p.R489R	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	489	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CCGTTCTGCTTCTGTCATGGG	0.522													C	104782498	T	C	104782498	2	2	189	1	0	0	0	0	0	0	0	1	15159	1780	62	3		3	SRPK2	7	104782498	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9253	104782498	54356165	2079	99936											
PUS7	54517	broad.mit.edu	37	chr7	105111264	105111264	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttggtctttgcccattcTtctctgcatttaaccaagta	5	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:105111264T>G	uc003vcx.2	-	11	1488	c.1269A>C	c.(1267-1269)GAA>GAC	p.E423D	PUS7_uc010lji.2_Missense_Mutation_p.E429D|PUS7_uc003vcy.2_Missense_Mutation_p.E423D|PUS7_uc003vcz.1_Missense_Mutation_p.E423D	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	423	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TTGCCCATTCTTCTCTGCATT	0.448													G	105111264	T	G	105111264	3	3	189	1	0	0	0	0	1	0	0	0	12833	1606	56	5	740	5	PUS7	7	105111264	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	328766	105111264	54027399	2080	99937											
PUS7	54517	broad.mit.edu	37	chr7	105148917	105148918	+	Frame_Shift_Ins	INS	-	-	C													ttatcttcgacaaccagtgcINScccacgtttcagcgacacac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:105148916_105148917G>GC	uc010lji.3	-	0	51_52	c.43_44C>GC	c.(43-45)gcafs	p.A15fs	PUS7_uc003vcx.3_Frame_Shift_Ins_p.A15fs|PUS7_uc003vcy.3_Frame_Shift_Ins_p.A15fs|PUS7_uc003vcz.1_Frame_Shift_Ins_p.A15fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	15					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GACAACCAGTGCCCCACGTTTC	0.431													C	105148918	-	C	105148917	7	5	189	1	0	1	1	0	0	0	0	0	12833	739	26	0	2002	0	PUS7	7	105148917	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	37653	105148917	53989746	2081	99938											
PIK3CG	5294	broad.mit.edu	37	chr7	106508581	106508581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggtggccagccgcgAccccaagctctacgccatgc	14	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:106508581A>G	uc003vdv.3	+	2	660	c.575A>G	c.(574-576)GAC>GGC	p.D192G	PIK3CG_uc003vdu.2_Missense_Mutation_p.D192G|PIK3CG_uc003vdw.2_Missense_Mutation_p.D192G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	192					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			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCCAGCCGCGACCCCAAGCTC	0.617													G	106508581	A	G	106508581	3	3	189	1	0	0	0	0	1	0	0	0	11916	275	10	3	577	3	PIK3CG	7	106508581	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1359664	106508581	52630082	2082	99939											
PIK3CG	5294	broad.mit.edu	37	chr7	106519994	106519994	+	Frame_Shift_Del	DEL	A	A	-													gtaaagtaatggcctccaagAaaaaaccactatggcttgag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:106519993_106519993GA>G	uc003vdv.4	+	5	2506	c.2421_2421GA>G	c.(2419-2421)aagfs	p.K807fs	PIK3CG_uc003vdu.3_Frame_Shift_Del_p.K807fs|PIK3CG_uc003vdw.3_Frame_Shift_Del_p.K807fs	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	807					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S806F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCCTCCAAGAAAAAACCAC	0.378													-	106519994	A	-	106519994	7	5	189	1	0	1	0	1	0	0	0	0	11916	247	9	0	2440	0	PIK3CG	7	106519994	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	11413	106519994	52618669	2083	99940											
GPR22	2845	broad.mit.edu	37	chr7	107114534	107114534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccattctggaaatcaAcatgcagtctgaatctaaca	5	11	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:107114534A>C	uc003vef.2	+	3	1375	c.29A>C	c.(28-30)AAC>ACC	p.N10T	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	10	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2						CTGGAAATCAACATGCAGTCT	0.343													C	107114534	A	C	107114534	3	2	189	1	0	0	0	0	1	0	0	0	6682	43	2	5	31	5	GPR22	7	107114534	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	594540	107114534	52024129	2084	99941											
SLC26A4	5172	broad.mit.edu	37	chr7	107334918	107334918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagcttctggaaccctTgcagaaggtataaccctgct	12	10	1	1	rs111033307		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:107334918T>C	uc003vep.2	+	11	1558	c.1334T>C	c.(1333-1335)TTG>TCG	p.L445S	SLC26A4_uc011kmb.1_Missense_Mutation_p.L32S|SLC26A4_uc011kmc.1_Intron|SLC26A4_uc011kmd.1_Missense_Mutation_p.L14S	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	445	Cytoplasmic (Potential).		L -> W (in PDS and DFNB4).		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			ovary(3)|central_nervous_system(2)|skin(2)	7						CTGGAACCCTTGCAGAAGGTA	0.458									Pendred_syndrome				C	107334918	T	C	107334918	3	2	189	1	0	0	0	0	1	0	0	0	14519	1821	63	3	1372	3	SLC26A4	7	107334918	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	220384	107334918	51803745	2085	99942											
NRCAM	4897	broad.mit.edu	37	chr7	107808754	107808754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catattcaacataaaagttcAcatgctctggtccctcatat	4	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:107808754A>G	uc003vfb.2	-	29	3752	c.3281T>C	c.(3280-3282)GTG>GCG	p.V1094A	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1094	Fibronectin type-III 5.|Extracellular (Potential).			HV -> YA (in Ref. 8; CAA04507).	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			ovary(3)|breast(2)	5						ATAAAAGTTCACATGCTCTGG	0.378													G	107808754	A	G	107808754	3	3	189	1	0	0	0	0	1	0	0	0	10644	159	6	3	683	3	NRCAM	7	107808754	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	473836	107808754	51329909	2086	99943											
LRRN3	54674	broad.mit.edu	37	chr7	110764636	110764637	+	Frame_Shift_Ins	INS	-	-	A													accatctatcagaaaaacagINSaaaaaaatgtgtaaatgtca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:110764636_110764637insA	uc003vft.3	+	4	2854_2855	c.1808_1809insA	c.(1807-1809)AGAfs	p.R603fs	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Frame_Shift_Ins_p.R603fs|LRRN3_uc003vfs.3_Frame_Shift_Ins_p.R603fs	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	603	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		CAGAAAAACAGAAAAAAATGTG	0.356													A	110764637	-	A	110764636	7	5	189	1	0	1	1	0	0	0	0	0	9036	942	33	0	1810	0	LRRN3	7	110764636	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	2955882	110764636	48374027	2087	99944	491	2									
LRRN3	54674	broad.mit.edu	37	chr7	110764637	110764638	+	Frame_Shift_Ins	INS	-	-	A													ccatctatcagaaaaacagaINSaaaaaatgtgtaaatgtcac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:110764636_110764637G>GA	uc003vft.4	+	3	2854_2855	c.1808_1809G>GA	c.(1807-1809)agafs	p.R603fs	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Frame_Shift_Ins_p.R603fs|LRRN3_uc003vfs.4_Frame_Shift_Ins_p.R603fs|LRRN3_uc022akc.1_Frame_Shift_Ins_p.R603fs	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	603	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)		CAGAAAAACAGAAAAAAATGTG	0.356													A	110764638	-	A	110764637	7	5	189	1	0	1	1	0	0	0	0	0	9036	243	9	0	1811	0	LRRN3	7	110764637	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	1	110764637	48374026	2088	99945	491	2									
TMEM168	64418	broad.mit.edu	37	chr7	112423920	112423920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcagtcatttaatttggTatggaatccccaaagagtta	9	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:112423920T>C	uc003vgn.2	-	2	1353	c.961A>G	c.(961-963)ACC>GCC	p.T321A	TMEM168_uc010lju.2_Missense_Mutation_p.T321A|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	321						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						TTTAATTTGGTATGGAATCCC	0.348													C	112423920	T	C	112423920	3	2	189	1	0	0	0	0	1	0	0	0	16080	1638	57	3	1148	3	TMEM168	7	112423920	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1659283	112423920	46714743	2089	99946											
FOXP2	93986	broad.mit.edu	37	chr7	114270053	114270053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcatcctggaaagcaagCgaaagaggtaggatccggtt	13	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:114270053C>T	uc003vhb.2	+	5	964	c.590C>T	c.(589-591)GCG>GTG	p.A197V	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.A222V|FOXP2_uc003vha.2_Missense_Mutation_p.A105V|FOXP2_uc011kmu.1_Missense_Mutation_p.A214V|FOXP2_uc011kmv.1_Missense_Mutation_p.A197V|FOXP2_uc010ljz.1_Missense_Mutation_p.A105V|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.A197V|FOXP2_uc003vgx.2_Missense_Mutation_p.A197V|FOXP2_uc003vhd.2_Missense_Mutation_p.A197V|FOXP2_uc003vhc.2_Missense_Mutation_p.A222V	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	197	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			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						GGAAAGCAAGCGAAAGAGGTA	0.244													T	114270053	C	T	114270053	3	4	189	1	0	0	0	0	1	0	0	0	6027	768	27	1	738	1	FOXP2	7	114270053	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1846133	114270053	44868610	2090	99947											
ST7	7982	broad.mit.edu	37	chr7	116771955	116771956	+	Frame_Shift_Del	DEL	GA	GA	-													atagtaatgcagaaagcctgGagagagagaaacccccaagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:116771954_116771955GGA>G	uc003vin.3	+	5	795_796	c.581_582GGA>G	c.(580-582)tggfs	p.W194fs	ST7_uc011knl.2_Frame_Shift_Del_p.W194fs|ST7_uc003vio.3_Frame_Shift_Del_p.W194fs|ST7_uc003viq.3_Frame_Shift_Del_p.W148fs|ST7_uc011knm.2_Frame_Shift_Del_p.W151fs|ST7_uc003vir.3_Frame_Shift_Del_p.W142fs|ST7-AS2_uc003viu.3_Intron|ST7-AS2_uc003viw.3_Intron|ST7_uc003vix.1_Frame_Shift_Del_p.W30fs	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	194						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAGAAAGCCTGGAGAGAGAGAA	0.386													-	116771956	GA	-	116771955	7	5	189	1	0	1	0	1	0	0	0	0	15228	1183	41	0	604	0	ST7	7	116771955	Frame_Shift_Del	DEL	GA	TCGA-CG-5721-01A-11D-1600-08	2501902	116771955	42366708	2091	99948											
ST7	7982	broad.mit.edu	37	chr7	116859169	116859169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccttatcccttggaaaaGgggcacctattttatcctta	6	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:116859169G>A	uc003vin.2	+	14	1651	c.1437G>A	c.(1435-1437)AAG>AAA	p.K479K	ST7_uc011knl.1_Silent_p.K456K|ST7_uc003vio.2_Silent_p.K456K|ST7_uc003viq.2_Silent_p.K433K|ST7_uc011knm.1_Silent_p.K436K|ST7_uc003vir.2_Silent_p.K399K|ST7_uc011knn.1_Silent_p.K427K	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	479						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTTGGAAAAGGGGCACCTAT	0.448													A	116859169	G	A	116859169	2	1	189	1	0	0	0	0	0	0	0	1	15228	991	35	4		4	ST7	7	116859169	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	87214	116859169	42279494	2092	99949											
KCND2	3751	broad.mit.edu	37	chr7	119915302	119915302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgcgaatgtggtggaaAcagtgccgtgcggatcaagc	14	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:119915302A>G	uc003vjj.1	+	1	1581	c.616A>G	c.(616-618)ACA>GCA	p.T206A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	206					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TGTGGTGGAAACAGTGCCGTG	0.562													G	119915302	A	G	119915302	3	3	189	1	0	0	0	0	1	0	0	0	8019	43	2	3	618	3	KCND2	7	119915302	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3056133	119915302	39223361	2093	99950											
ING3	54556	broad.mit.edu	37	chr7	120593419	120593419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgcaaagaaaaataaAcctgagtggagggaagagca	12	4	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:120593419A>G	uc003vjn.2	+	3	296	c.162A>G	c.(160-162)AAA>AAG	p.K54K	ING3_uc011knr.1_Silent_p.K54K|ING3_uc003vjl.2_Silent_p.K54K|ING3_uc003vjm.1_Silent_p.K54K|ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Silent_p.K54K|ING3_uc011kns.1_Silent_p.K39K	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	54					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)					AGAAAAATAAACCTGAGTGGA	0.308													G	120593419	A	G	120593419	2	3	189	1	0	0	0	0	0	0	0	1	7737	40	2	3		3	ING3	7	120593419	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	678117	120593419	38545244	2094	99951											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|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 JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	189	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	378460	120971879	38166784	2095	99952											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650430	121650430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaggcgctattgtgAatcctggtagagacagtgct	13	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:121650430A>G	uc003vjy.2	+	12	1725	c.1330A>G	c.(1330-1332)AAT>GAT	p.N444D	PTPRZ1_uc003vjz.2_Missense_Mutation_p.N444D|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	444	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CGCTATTGTGAATCCTGGTAG	0.388													G	121650430	A	G	121650430	3	3	189	1	0	0	0	0	1	0	0	0	12814	246	9	3	1376	3	PTPRZ1	7	121650430	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	678551	121650430	37488233	2096	99953											
AASS	10157	broad.mit.edu	37	chr7	121753238	121753238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaattgggagctgtgcCggcaaattgtcaatggaaca	12	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:121753238C>T	uc003vka.2	-	10	1308	c.1212G>A	c.(1210-1212)CCG>CCA	p.P404P	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.P404P|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	404	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAGCTGTGCCGGCAAATTGT	0.408													T	121753238	C	T	121753238	2	4	189	1	0	0	0	0	0	0	0	1	24	639	23	1		1	AASS	7	121753238	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	102808	121753238	37385425	2097	99954											
FEZF1	389549	broad.mit.edu	37	chr7	121944256	121944256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgtgtcgtaggccacaGgcacgaaggggatcatgcag	16	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:121944256G>T	uc003vkd.2	-	1	310	c.236C>A	c.(235-237)CCT>CAT	p.P79H	FEZF1_uc003vkc.2_Missense_Mutation_p.P79H|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	79					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						GTAGGCCACAGGCACGAAGGG	0.572													T	121944256	G	T	121944256	3	4	189	1	0	0	0	0	1	0	0	0	5825	1000	35	5	1207	5	FEZF1	7	121944256	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	191018	121944256	37194407	2098	99955											
RNF133	168433	broad.mit.edu	37	chr7	122338722	122338722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtattgggattacatgcaTtttggatttttccctctggt	10	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:122338722T>C	uc003vkj.1	-	1	487	c.251A>G	c.(250-252)AAT>AGT	p.N84S	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	84	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						ATTACATGCATTTTGGATTTT	0.443													C	122338722	T	C	122338722	3	2	189	1	0	0	0	0	1	0	0	0	13439	1493	52	3	883	3	RNF133	7	122338722	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	394466	122338722	36799941	2099	99956											
IQUB	154865	broad.mit.edu	37	chr7	123109382	123109382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctctgatggtgaactgCgtatccatctcaattgtttt	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:123109382C>T	uc003vkn.2	-	9	2044	c.1467G>A	c.(1465-1467)ACG>ACA	p.T489T	IQUB_uc003vko.2_Silent_p.T489T|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.T489T	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	489										ovary(3)|large_intestine(1)	4						TGGTGAACTGCGTATCCATCT	0.343													T	123109382	C	T	123109382	2	4	189	1	0	0	0	0	0	0	0	1	7820	755	27	1		1	IQUB	7	123109382	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	770660	123109382	36029281	2100	99957											
ASB15	142685	broad.mit.edu	37	chr7	123256454	123256454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagtatgtaaaatataAatatgcaatggatgaagctg	10	4	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:123256454A>G	uc003vku.1	+	6	489	c.197A>G	c.(196-198)AAA>AGA	p.K66R	ASB15_uc003vkv.1_Missense_Mutation_p.K66R|ASB15_uc003vkw.1_Missense_Mutation_p.K66R	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	66					intracellular signal transduction					skin(2)|lung(1)	3						GTAAAATATAAATATGCAATG	0.383													G	123256454	A	G	123256454	3	3	189	1	0	0	0	0	1	0	0	0	1019	14	1	3	207	3	ASB15	7	123256454	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	147072	123256454	35882209	2101	99958											
SPAM1	6677	broad.mit.edu	37	chr7	123594255	123594255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaattgggaaaattacttCggccaaatcacttgtggggt	10	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:123594255C>T	uc003vld.2	+	4	1033	c.631C>T	c.(631-633)CGG>TGG	p.R211W	SPAM1_uc003vle.2_Missense_Mutation_p.R211W|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.R211W|SPAM1_uc010lku.2_Missense_Mutation_p.R211W	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	211				R->G: Reduces activity by over 90%.	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			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	AAAATTACTTCGGCCAAATCA	0.378													T	123594255	C	T	123594255	3	4	189	1	0	0	0	0	1	0	0	0	14986	875	31	1	633	1	SPAM1	7	123594255	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	337801	123594255	35544408	2102	99959											
SPAM1	6677	broad.mit.edu	37	chr7	123594523	123594523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaagtccacttccggTttttgcatatacccgcatag	7	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:123594523T>C	uc003vld.2	+	4	1301	c.899T>C	c.(898-900)GTT>GCT	p.V300A	SPAM1_uc003vle.2_Missense_Mutation_p.V300A|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.V300A|SPAM1_uc010lku.2_Missense_Mutation_p.V300A	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	300					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			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	CCACTTCCGGTTTTTGCATAT	0.408													C	123594523	T	C	123594523	3	2	189	1	0	0	0	0	1	0	0	0	14986	1725	60	3	901	3	SPAM1	7	123594523	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	268	123594523	35544140	2103	99960											
POT1	25913	broad.mit.edu	37	chr7	124503490	124503490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattggctgaacatcacAcaattttagtaatgtccaag	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:124503490A>G	uc003vlm.2	-	8	1061	c.460T>C	c.(460-462)TGT>CGT	p.C154R	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.C23R|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	154					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			central_nervous_system(1)	1						TGAACATCACACAATTTTAGT	0.398													G	124503490	A	G	124503490	3	3	189	1	0	0	0	0	1	0	0	0	12260	159	6	3	1492	3	POT1	7	124503490	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	908967	124503490	34635173	2104	99961											
GRM8	2918	broad.mit.edu	37	chr7	126173278	126173278	+	Frame_Shift_Del	DEL	G	G	-													tccatagtcaatgatgatgtGggggggatccacaacaaacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:126173277_126173277TG>T	uc003vlr.2	-	7	2470	c.2159_2159CA>A	c.(2158-2160)cacfs	p.H720fs	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Frame_Shift_Del_p.H720fs|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	720					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)	AATGATGATGTGGGGGGGATC	0.502										HNSCC(24;0.065)			-	126173278	G	-	126173278	7	5	189	1	0	1	0	1	0	0	0	0	6803	1348	47	0	630	0	GRM8	7	126173278	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1669788	126173278	32965385	2105	99962											
GRM8	2918	broad.mit.edu	37	chr7	126409971	126409971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctttcccatcaatggtActcattcgtggacaaaggcc	8	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:126409971A>G	uc003vlr.2	-	6	1616	c.1305T>C	c.(1303-1305)AGT>AGC	p.S435S	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.S435S|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Silent_p.S156S	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	435	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CATCAATGGTACTCATTCGTG	0.408										HNSCC(24;0.065)			G	126409971	A	G	126409971	2	3	189	1	0	0	0	0	0	0	0	1	6803	388	14	3		3	GRM8	7	126409971	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	236693	126409971	32728692	2106	99963											
SND1	27044	broad.mit.edu	37	chr7	127724828	127724828	+	Frame_Shift_Del	DEL	C	C	-													cgcaatgacattgccagtcaCccccctgtagagggctccta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:127724827_127724827AC>A	uc003vmi.3	+	18	2388	c.2162_2162AC>A	c.(2161-2163)cacfs	p.H721fs	SND1_uc010lle.3_Frame_Shift_Del_p.H374fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	721					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	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						ATTGCCAGTCACCCCCCTGTA	0.562													-	127724828	C	-	127724828	7	5	189	1	0	1	0	1	0	0	0	0	14844	506	18	0	2237	0	SND1	7	127724828	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	1314857	127724828	31413835	2107	99964											
CCDC136	64753	broad.mit.edu	37	chr7	128451944	128451944	+	Frame_Shift_Del	DEL	G	G	-													agctcttgcagcaagagcaaGggaggctcctagaggagcgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:128451943_128451943AG>A	uc003vnv.2	+	12	2534	c.2118_2118AG>A	c.(2116-2118)caafs	p.Q706fs	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Frame_Shift_Del_p.Q522fs|CCDC136_uc010llq.2_Frame_Shift_Del_p.Q75fs|CCDC136_uc003vny.2_Frame_Shift_Del_p.Q316fs	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	706						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGCAAGAGCAAGGGAGGCTCC	0.572													-	128451944	G	-	128451944	7	5	189	1	0	1	0	1	0	0	0	0	2770	1000	35	0	2169	0	CCDC136	7	128451944	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	727116	128451944	30686719	2108	99965											
ATP6V1F	9296	broad.mit.edu	37	chr7	128505435	128505435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctctccccacaggcaaTttctaaaccgggatgacatt	6	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:128505435T>C	uc003voc.1	+	2	224	c.163T>C	c.(163-165)TTT>CTT	p.F55L	KCP_uc003vob.1_Intron	NM_004231	NP_004222	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kD, V1	55					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CCACAGGCAATTTCTAAACCG	0.602													C	128505435	T	C	128505435	3	2	189	1	0	0	0	0	1	0	0	0	1185	1493	52	3	169	3	ATP6V1F	7	128505435	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	53491	128505435	30633228	2109	99966											
TNPO3	23534	broad.mit.edu	37	chr7	128655045	128655045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaccaatagagatacTactgtactagagtagaaggc	8	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:128655045T>C	uc003vol.1	-	4	914	c.540A>G	c.(538-540)GTA>GTG	p.V180V	TNPO3_uc003vom.1_Silent_p.V114V|TNPO3_uc010lly.1_Silent_p.V180V|TNPO3_uc010llz.1_Silent_p.V180V	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	180					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						ATAGAGATACTACTGTACTAG	0.373													C	128655045	T	C	128655045	2	2	189	1	0	0	0	0	0	0	0	1	16334	1509	53	3		3	TNPO3	7	128655045	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	149610	128655045	30483618	2110	99967											
FAM40B	57464	broad.mit.edu	37	chr7	129098164	129098164	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgctggtgatggagaaCgaaccttggatggagagcta	15	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:129098164C>T	uc011koy.1	+	10	1187	c.1147C>T	c.(1147-1149)CGA>TGA	p.R383*	FAM40B_uc003vow.2_Nonsense_Mutation_p.R383*|FAM40B_uc011koz.1_Translation_Start_Site	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	383											0						TGATGGAGAACGAACCTTGGA	0.572													T	129098164	C	T	129098164	4	4	189	1	0	0	0	0	0	1	0	0	5561	528	19	1	1185	1	FAM40B	7	129098164	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	443119	129098164	30040499	2111	99968											
FAM40B	57464	broad.mit.edu	37	chr7	129102882	129102882	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagccttccgcagtatatgGtaaggagatggctaggccag	13	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:129102882G>T	uc011koy.1	+	14	1591	c.1551_splice	c.e14+1	p.M517_splice	FAM40B_uc003vow.2_Splice_Site_p.M517_splice|FAM40B_uc011koz.1_Splice_Site_p.M9_splice	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a												0						GCAGTATATGGTAAGGAGATG	0.498													T	129102882	G	T	129102882	5	4	189	1	0	0	0	0	0	0	1	0	5561	1275	44	5	1606	5	FAM40B	7	129102882	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4718	129102882	30035781	2112	99969											
MEST	4232	broad.mit.edu	37	chr7	130138019	130138019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgagcaggccagcatcGtggaagcgcttttgcggcat	13	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:130138019G>A	uc003vqg.2	+	5	596	c.379G>A	c.(379-381)GTG>ATG	p.V127M	MEST_uc003vqc.2_Missense_Mutation_p.V118M|MEST_uc003vqd.2_Missense_Mutation_p.V118M|MEST_uc003vqf.2_Missense_Mutation_p.V118M|MEST_uc011kph.1_Missense_Mutation_p.V113M|MEST_uc010lmg.2_Missense_Mutation_p.V127M	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	127					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					GGCCAGCATCGTGGAAGCGCT	0.507													A	130138019	G	A	130138019	3	1	189	1	0	0	0	0	1	0	0	0	9484	1145	40	1	397	1	MEST	7	130138019	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1035137	130138019	29000644	2113	99970											
PLXNA4	91584	broad.mit.edu	37	chr7	131982902	131982902	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttggagaaggccataTcccggaggactgggccgggg	18	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:131982902T>C	uc003vra.3	-	4	1680	c.1451A>G	c.(1450-1452)GAT>GGT	p.D484G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	484	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GAAGGCCATATCCCGGAGGAC	0.572													C	131982902	T	C	131982902	3	2	189	1	0	0	0	0	1	0	0	0	12122	1435	50	3	4349	3	PLXNA4	7	131982902	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1844883	131982902	27155761	2114	99971											
LRGUK	136332	broad.mit.edu	37	chr7	133859333	133859333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgagagaaatagaatAcattaaaaatttacccatcc	6	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:133859333A>G	uc003vrm.1	+	8	981	c.965A>G	c.(964-966)TAC>TGC	p.Y322C		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	322	LRR 9.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GAAATAGAATACATTAAAAAT	0.333													G	133859333	A	G	133859333	3	3	189	1	0	0	0	0	1	0	0	0	8943	391	14	3	995	3	LRGUK	7	133859333	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1876431	133859333	25279330	2115	99972											
CALD1	800	broad.mit.edu	37	chr7	134650055	134650055	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgcttcctttttatcAggacttgagaccaggagacg	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:134650055A>G	uc003vrz.2	+	14	2755	c.2296_splice	c.e14-2	p.D766_splice	CALD1_uc003vsa.2_Splice_Site_p.D537_splice|CALD1_uc003vsb.2_Splice_Site_p.D511_splice|CALD1_uc010lmm.2_Splice_Site_p.D536_splice|CALD1_uc011kpt.1_Splice_Site_p.D285_splice|CALD1_uc003vsc.2_Splice_Site_p.D531_splice|CALD1_uc003vsd.2_Splice_Site_p.D505_splice|CALD1_uc011kpu.1_Splice_Site_p.D516_splice|CALD1_uc011kpv.1_Splice_Site_p.D375_splice|CALD1_uc003vse.2_Splice_Site_p.D629_splice|CALD1_uc010lmn.2_Splice_Site	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1						cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						CCTTTTTATCAGGACTTGAGA	0.413													G	134650055	A	G	134650055	5	3	189	1	0	0	0	0	0	0	1	0	2581	202	7	3	2397	3	CALD1	7	134650055	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	790722	134650055	24488608	2116	99973											
NUP205	23165	broad.mit.edu	37	chr7	135258404	135258404	+	Splice_Site	DEL	A	A	-													acaattttatcattgtagccAaaaaatgttcaacagcatga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:135258403_135258403CA>C	uc003vsw.3	+	3	203	c.172_splice	c.e3-1	p.P58_splice	NUP205_uc011kqa.1_Splice_Site	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	58					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						TCATTGTAGCCAAAAAATGTT	0.413													-	135258404	A	-	135258404	8	5	189	1	0	1	0	1	0	0	1	0	10759	117	5	0	184	0	NUP205	7	135258404	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	608349	135258404	23880259	2117	99974											
PTN	5764	broad.mit.edu	37	chr7	136938333	136938333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtctccactggtgggcAcacacacactccactgccat	7	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:136938333A>G	uc003vtq.2	-	3	530	c.167T>C	c.(166-168)GTG>GCG	p.V56A	PTN_uc010lmx.2_Missense_Mutation_p.V56A|PTN_uc003vtr.1_Missense_Mutation_p.V56A	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	56					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			upper_aerodigestive_tract(1)|pancreas(1)	2						ACTGGTGGGCACACACACACT	0.498													G	136938333	A	G	136938333	3	3	189	1	0	0	0	0	1	0	0	0	12768	159	6	3	351	3	PTN	7	136938333	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1679929	136938333	22200330	2118	99975											
KIAA1549	57670	broad.mit.edu	37	chr7	138601633	138601633	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggcaggggaggagcagcActactctctggggggctctg	18	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:138601633A>G	uc011kql.1	-	2	2788	c.2739T>C	c.(2737-2739)AGT>AGC	p.S913S	KIAA1549_uc003vuk.3_Silent_p.S863S|KIAA1549_uc011kqj.1_Silent_p.S913S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	913						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GAGGAGCAGCACTACTCTCTG	0.617			O	BRAF	pilocytic astrocytoma								G	138601633	A	G	138601633	2	3	189	1	0	0	0	0	0	0	0	1	8244	156	6	3		3	KIAA1549	7	138601633	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1663300	138601633	20537030	2119	99976											
KIAA1549	57670	broad.mit.edu	37	chr7	138603524	138603524	+	Frame_Shift_Del	DEL	A	A	-													gcattaaagaccgggagcttAaaaaaagggtggtttccaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:138603523_138603523TA>T	uc011kql.2	-	1	898	c.849_849TA>A	c.(847-849)ttafs	p.L283fs	KIAA1549_uc011kqj.2_Frame_Shift_Del_p.L283fs	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	283						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACCGGGAGCTTAAAAAAAGGG	0.517			O	BRAF	pilocytic astrocytoma								-	138603524	A	-	138603524	7	5	189	1	0	1	0	1	0	0	0	0	8244	372	13	0	5080	0	KIAA1549	7	138603524	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1891	138603524	20535139	2120	99977											
HIPK2	28996	broad.mit.edu	37	chr7	139315945	139315945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggatatggtgagtccgtgTcacggttgaaaaacctagtt	12	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:139315945T>C	uc003vvf.3	-	4	1487	c.1313A>G	c.(1312-1314)GAC>GGC	p.D438G	HIPK2_uc003vvd.3_Missense_Mutation_p.D438G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	438	Protein kinase.|Interaction with DAXX.				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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					TGAGTCCGTGTCACGGTTGAA	0.488													C	139315945	T	C	139315945	3	2	189	1	0	0	0	0	1	0	0	0	7117	1667	58	3	2331	3	HIPK2	7	139315945	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	712421	139315945	19822718	2121	99978											
BRAF	673	broad.mit.edu	37	chr7	140434564	140434564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcagctcaatagaggCgagaatctacaaaaaaaaaa	9	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:140434564C>T	uc003vwc.3	-	18	2195	c.2134G>A	c.(2134-2136)GCC>ACC	p.A712T		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	712	Protein kinase.				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		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCAATAGAGGCGAGAATCTAC	0.284		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				T	140434564	C	T	140434564	3	4	189	1	0	0	0	0	1	0	0	0	1496	768	27	1	170	1	BRAF	7	140434564	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1118619	140434564	18704099	2122	99979											
BRAF	673	broad.mit.edu	37	chr7	140534520	140534520	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgaaagagatgaaggTagcactgaaaggctagaaga	12	4	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:140534520T>C	uc003vwc.3	-	3	454	c.393A>G	c.(391-393)CTA>CTG	p.L131L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	131					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		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGATGAAGGTAGCACTGAAA	0.438		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				C	140534520	T	C	140534520	2	2	189	1	0	0	0	0	0	0	0	1	1496	1625	57	3		3	BRAF	7	140534520	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	99956	140534520	18604143	2123	99980											
AGK	55750	broad.mit.edu	37	chr7	141301025	141301025	+	Frame_Shift_Del	DEL	A	A	-													aaaagccaggactctatttgAaaaaaatgctgccccgattt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:141301024_141301024GA>G	uc003vwi.2	+	4	412	c.241_241GA>G	c.(241-243)gaafs	p.E81fs	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	81	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GACTCTATTTGAAAAAAATGC	0.363													-	141301025	A	-	141301025	7	5	189	1	0	1	0	1	0	0	0	0	383	246	9	0	256	0	AGK	7	141301025	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	766505	141301025	17837638	2124	99981											
SSBP1	6742	broad.mit.edu	37	chr7	141443490	141443490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcaggggatagtgaagTttaccaactgggtgagtaca	14	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:141443490T>C	uc003vwo.1	+	4	293	c.215T>C	c.(214-216)GTT>GCT	p.V72A	SSBP1_uc011kri.1_Missense_Mutation_p.V72A|SSBP1_uc010lnp.1_Missense_Mutation_p.V72A	NM_003143	NP_003134	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1 precursor	72	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			ovary(1)	1	Melanoma(164;0.0171)					GATAGTGAAGTTTACCAACTG	0.373													C	141443490	T	C	141443490	3	2	189	1	0	0	0	0	1	0	0	0	15178	1725	60	3	225	3	SSBP1	7	141443490	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	142465	141443490	17695173	2125	99982											
MGAM	8972	broad.mit.edu	37	chr7	141731569	141731569	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgagctttttcacaatcaAgtagagtttgatggaatctg	9	5	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:141731569A>G	uc003vwy.2	+	13	1614	c.1560A>G	c.(1558-1560)CAA>CAG	p.Q520Q		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	520	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCACAATCAAGTAGAGTTTG	0.378													G	141731569	A	G	141731569	2	3	189	1	0	0	0	0	0	0	0	1	9541	69	3	3		3	MGAM	7	141731569	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	288079	141731569	17407094	2126	99983											
PRSS1	5644	broad.mit.edu	37	chr7	142460323	142460323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcctggatgctcctgtgCtgagccaggctaagtgtgaa	14	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:142460323C>T	uc003wak.2	+	4	513	c.496C>T	c.(496-498)CTG>TTG	p.L166L	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Silent_p.L106L	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	166	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	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)			TGCTCCTGTGCTGAGCCAGGC	0.532									Hereditary_Pancreatitis				T	142460323	C	T	142460323	2	4	189	1	0	0	0	0	0	0	0	1	12614	796	28	2		2	PRSS1	7	142460323	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	728754	142460323	16678340	2127	99984											
CASP2	835	broad.mit.edu	37	chr7	142989724	142989724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagttgagctgtgactaCgacttgagtctcccttttcc	8	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:142989724C>T	uc003wco.2	+	4	555	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	CASP2_uc003wcp.2_Intron|CASP2_uc011kta.1_Silent_p.Y20Y|CASP2_uc003wcq.2_RNA	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	136					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			lung(2)|ovary(1)	3	Melanoma(164;0.059)					GCTGTGACTACGACTTGAGTC	0.473													T	142989724	C	T	142989724	2	4	189	1	0	0	0	0	0	0	0	1	2671	547	19	1		1	CASP2	7	142989724	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	529401	142989724	16148939	2128	99985											
CASP2	835	broad.mit.edu	37	chr7	142991808	142991808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaccacagtactctagTcaccctcttcaagcttttgg	8	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:142991808T>C	uc003wco.2	+	6	836	c.689T>C	c.(688-690)GTC>GCC	p.V230A	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Missense_Mutation_p.V114A|CASP2_uc003wcq.2_RNA	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	230					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			lung(2)|ovary(1)	3	Melanoma(164;0.059)					AGTACTCTAGTCACCCTCTTC	0.498													C	142991808	T	C	142991808	3	2	189	1	0	0	0	0	1	0	0	0	2671	1667	58	3	711	3	CASP2	7	142991808	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2084	142991808	16146855	2129	99986											
EPHA1	2041	broad.mit.edu	37	chr7	143095474	143095474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcggggccgggacccCgcccaggtcagctctagttg	16	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:143095474C>T	uc003wcz.2	-	7	1491	c.1404G>A	c.(1402-1404)GCG>GCA	p.A468A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	468	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCCGGGACCCCGCCCAGGTCA	0.582													T	143095474	C	T	143095474	2	4	189	1	0	0	0	0	0	0	0	1	5165	639	23	1		1	EPHA1	7	143095474	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	103666	143095474	16043189	2130	99987											
C7orf33	202865	broad.mit.edu	37	chr7	148288118	148288118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccagtggggcaaggcGccggattgaccttcgcctga	14	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:148288118G>A	uc003wew.2	+	1	462	c.101G>A	c.(100-102)CGC>CAC	p.R34H		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	34										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGGCAAGGCGCCGGATTGAC	0.567													A	148288118	G	A	148288118	3	1	189	1	0	0	0	0	1	0	0	0	2388	1087	38	1	103	1	C7orf33	7	148288118	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5192644	148288118	10850545	2131	99988											
ZNF398	57541	broad.mit.edu	37	chr7	148875952	148875952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgacttttactcagttgGgtagctatcccctcccacct	7	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:148875952G>A	uc003wfl.2	+	6	1263	c.988G>A	c.(988-990)GGT>AGT	p.G330S	ZNF398_uc011kul.1_Missense_Mutation_p.G159S|ZNF398_uc011kum.1_Missense_Mutation_p.G335S	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	330					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TACTCAGTTGGGTAGCTATCC	0.532													A	148875952	G	A	148875952	3	1	189	1	0	0	0	0	1	0	0	0	17882	1232	43	4	1010	4	ZNF398	7	148875952	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	587834	148875952	10262711	2132	99989											
ZNF212	7988	broad.mit.edu	37	chr7	148949824	148949824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccagacagagggagaagCggagttgggtacagagatgc	18	6	0	4	rs150585649	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:148949824C>T	uc003wfp.2	+	4	665	c.569C>T	c.(568-570)GCG>GTG	p.A190V		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	190	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGGGAGAAGCGGAGTTGGGT	0.567													T	148949824	C	T	148949824	3	4	189	1	0	0	0	0	1	0	0	0	17765	768	27	1	583	1	ZNF212	7	148949824	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	73872	148949824	10188839	2133	99990											
ZNF777	27153	broad.mit.edu	37	chr7	149148196	149148196	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtctggtttggaaatTgcatagtctaggcagaagaa	13	4	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:149148196T>C	uc003wfv.2	-	4	1144	c.981A>G	c.(979-981)GCA>GCG	p.A327A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	327	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTTTGGAAATTGCATAGTCTA	0.527													C	149148196	T	C	149148196	2	2	189	1	0	0	0	0	0	0	0	1	18147	1799	63	3		3	ZNF777	7	149148196	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	198372	149148196	9990467	2134	99991											
ZNF777	27153	broad.mit.edu	37	chr7	149152530	149152530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctccagcttcctctccActgcttggacggcagcccac	10	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:149152530A>G	uc003wfv.2	-	2	747	c.584T>C	c.(583-585)GTG>GCG	p.V195A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTTCCTCTCCACTGCTTGGAC	0.597													G	149152530	A	G	149152530	3	3	189	1	0	0	0	0	1	0	0	0	18147	159	6	3	1931	3	ZNF777	7	149152530	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4334	149152530	9986133	2135	99992											
ZNF746	155061	broad.mit.edu	37	chr7	149189961	149189961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccttacctggactggggTccacaggaacatctggaatc	11	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:149189961T>C	uc003wfw.2	-	4	780	c.509A>G	c.(508-510)GAC>GGC	p.D170G	ZNF746_uc010lpi.2_Missense_Mutation_p.D170G	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	170					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			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGACTGGGGTCCACAGGAAC	0.582													C	149189961	T	C	149189961	3	2	189	1	0	0	0	0	1	0	0	0	18126	1667	58	3	1444	3	ZNF746	7	149189961	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	37431	149189961	9948702	2136	99993											
ZNF746	155061	broad.mit.edu	37	chr7	149191542	149191542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgagcagcctgcgatTcaatcttcctctccatggcc	10	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:149191542T>C	uc003wfw.2	-	2	348	c.77A>G	c.(76-78)GAA>GGA	p.E26G	ZNF746_uc010lpi.2_Missense_Mutation_p.E26G	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	26	Potential.				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			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCCTGCGATTCAATCTTCCT	0.537													C	149191542	T	C	149191542	3	2	189	1	0	0	0	0	1	0	0	0	18126	1783	62	3	1884	3	ZNF746	7	149191542	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1581	149191542	9947121	2137	99994											
SSPO	23145	broad.mit.edu	37	chr7	149480000	149480000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgagggcctcagtgtgCgccgagcttcctctgccttt	13	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:149480000C>T	uc010lpk.2	+	15	1966	c.1966C>T	c.(1966-1968)CGC>TGC	p.R656C	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	656	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCAGTGTGCGCCGAGCTTC	0.662													T	149480000	C	T	149480000	3	4	189	1	0	0	0	0	1	0	0	0	15188	768	27	1	2022	1	SSPO	7	149480000	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	288458	149480000	9658663	2138	99995											
SSPO	23145	broad.mit.edu	37	chr7	149522125	149522125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggggggttcaggctaCgctggagagaggcagaggcc	20	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:149522125C>T	uc010lpk.2	+	97	13912	c.13912C>T	c.(13912-13914)CGC>TGC	p.R4638C	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4638	TSP type-1 23.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTTCAGGCTACGCTGGAGAGA	0.642													T	149522125	C	T	149522125	3	4	189	1	0	0	0	0	1	0	0	0	15188	536	19	1	14288	1	SSPO	7	149522125	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	42125	149522125	9616538	2139	99996											
REPIN1	29803	broad.mit.edu	37	chr7	150069806	150069806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgtctgccccgactgCggcaaagccttcagccagaa	9	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:150069806C>T	uc010lpq.1	+	4	1965	c.1476C>T	c.(1474-1476)TGC>TGT	p.C492C	REPIN1_uc003whd.2_Silent_p.C481C|REPIN1_uc010lpr.1_Silent_p.C549C|REPIN1_uc003whc.2_Silent_p.C492C|REPIN1_uc003whe.2_Silent_p.C492C	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	492	C2H2-type 13.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCCCCGACTGCGGCAAAGCCT	0.687													T	150069806	C	T	150069806	2	4	189	1	0	0	0	0	0	0	0	1	13227	776	27	1		1	REPIN1	7	150069806	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	547681	150069806	9068857	2140	99997											
ZNF775	285971	broad.mit.edu	37	chr7	150094516	150094516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgccccgagtgcggccGccgcttcagccagaagccca	13	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:150094516G>A	uc003whf.1	+	3	1072	c.947G>A	c.(946-948)CGC>CAC	p.R316H		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	316	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGTGCGGCCGCCGCTTCAGC	0.682													A	150094516	G	A	150094516	3	1	189	1	0	0	0	0	1	0	0	0	18145	1087	38	1	953	1	ZNF775	7	150094516	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24710	150094516	9044147	2141	99998											
GIMAP8	155038	broad.mit.edu	37	chr7	150164279	150164279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagactatgagggccgaTactgcattttcaacaacaag	8	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:150164279T>C	uc003whj.2	+	2	823	c.493T>C	c.(493-495)TAC>CAC	p.Y165H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	165						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGAGGGCCGATACTGCATTTT	0.453													C	150164279	T	C	150164279	3	2	189	1	0	0	0	0	1	0	0	0	6385	1406	49	3	495	3	GIMAP8	7	150164279	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	69763	150164279	8974384	2142	99999											
ACCN3	9311	broad.mit.edu	37	chr7	150746479	150746479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcgcttccgtggccaAccttgtgggcctgagaactt	12	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:150746479A>G	uc003win.2	+	1	875	c.507A>G	c.(505-507)CAA>CAG	p.Q169Q	ACCN3_uc003wio.2_Silent_p.Q169Q|ACCN3_uc003wip.2_Silent_p.Q169Q|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	169	Extracellular (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCGTGGCCAACCTTGTGGGC	0.617													G	150746479	A	G	150746479	2	3	189	1	0	0	0	0	0	0	0	1	130	40	2	3		3	ACCN3	7	150746479	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	582200	150746479	8392184	2143	1e+05											
SMARCD3	6604	broad.mit.edu	37	chr7	150936814	150936814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgagctggtttatggActcaatcgtctcatggatct	10	8	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:150936814A>G	uc003wjs.2	-	11	1293	c.1192T>C	c.(1192-1194)TCC>CCC	p.S398P	SMARCD3_uc003wjt.2_Missense_Mutation_p.S385P|SMARCD3_uc003wju.2_Missense_Mutation_p.S385P	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	398					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			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTTTATGGACTCAATCGTC	0.547													G	150936814	A	G	150936814	3	3	189	1	0	0	0	0	1	0	0	0	14779	275	10	3	271	3	SMARCD3	7	150936814	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	190335	150936814	8201849	2144	100001											
PRKAG2	51422	broad.mit.edu	37	chr7	151478262	151478262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggagcgggagaaaaaccTgatgcccccgggcgaggtag	16	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:151478262T>C	uc003wkk.2	-	3	1053	c.442A>G	c.(442-444)AGG>GGG	p.R148G	PRKAG2_uc003wkj.2_Missense_Mutation_p.R104G|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.R148G	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	148					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GAGAAAAACCTGATGCCCCCG	0.587													C	151478262	T	C	151478262	3	2	189	1	0	0	0	0	1	0	0	0	12501	1579	55	3	1323	3	PRKAG2	7	151478262	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	541448	151478262	7660401	2145	100002											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	189	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	358617	151836879	7301784	2146	100003											
MLL3	58508	broad.mit.edu	37	chr7	151845715	151845715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccgtggaccacagagCgcagttcaagtggacccaca	11	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:151845715C>T	uc003wla.2	-	52	13516	c.13297G>A	c.(13297-13299)GCT>ACT	p.A4433T	MLL3_uc003wkz.2_Missense_Mutation_p.A3551T|MLL3_uc003wkx.2_Missense_Mutation_p.A591T|MLL3_uc003wky.2_Missense_Mutation_p.A1997T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4433					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.A4433T(1)		large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GACCACAGAGCGCAGTTCAAG	0.483			N		medulloblastoma								T	151845715	C	T	151845715	3	4	189	1	0	0	0	0	1	0	0	0	9622	768	27	1	1470	1	MLL3	7	151845715	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8836	151845715	7292948	2147	100004											
MLL3	58508	broad.mit.edu	37	chr7	151853312	151853312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggctcactaacactccGgcttttccagcaagttcttc	6	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:151853312G>A	uc003wla.2	-	45	12009	c.11790C>T	c.(11788-11790)GCC>GCT	p.A3930A	MLL3_uc003wkz.2_Silent_p.A3048A|MLL3_uc003wkx.2_Silent_p.A88A|MLL3_uc003wky.2_Silent_p.A1494A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3930					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTAACACTCCGGCTTTTCCAG	0.473			N		medulloblastoma								A	151853312	G	A	151853312	2	1	189	1	0	0	0	0	0	0	0	1	9622	1103	39	1		1	MLL3	7	151853312	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7597	151853312	7285351	2148	100005											
MLL3	58508	broad.mit.edu	37	chr7	151859654	151859654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctggcctgctgccatatTgggagtggatgggccgactg	16	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:151859654T>C	uc003wla.2	-	43	11227	c.11008A>G	c.(11008-11010)AAT>GAT	p.N3670D	MLL3_uc003wkz.2_Missense_Mutation_p.N2731D|MLL3_uc003wky.2_Missense_Mutation_p.N1179D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3670					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCTGCCATATTGGGAGTGGAT	0.488			N		medulloblastoma								C	151859654	T	C	151859654	3	2	189	1	0	0	0	0	1	0	0	0	9622	1812	63	3	3795	3	MLL3	7	151859654	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6342	151859654	7279009	2149	100006											
MLL3	58508	broad.mit.edu	37	chr7	151866269	151866269	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttattagatttatacttActgacaaagcctggaccaaa	5	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:151866269A>G	uc003wla.2	-	41	9736	c.9517_splice	c.e41+1	p.N3173_splice	MLL3_uc003wkz.2_Splice_Site_p.N2234_splice|MLL3_uc003wky.2_Splice_Site_p.N682_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTTATACTTACTGACAAAGC	0.358			N		medulloblastoma								G	151866269	A	G	151866269	5	3	189	1	0	0	0	0	0	0	1	0	9622	405	14	3	5292	3	MLL3	7	151866269	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6615	151866269	7272394	2150	100007											
DPP6	1804	broad.mit.edu	37	chr7	154263973	154263973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatctccagatagagagtAtgcacttttttcatacaatg	6	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:154263973A>G	uc003wlk.2	+	5	728	c.599A>G	c.(598-600)TAT>TGT	p.Y200C	DPP6_uc003wli.2_Missense_Mutation_p.Y136C|DPP6_uc003wlj.2_Missense_Mutation_p.Y200C|DPP6_uc003wlm.2_Missense_Mutation_p.Y138C|DPP6_uc011kvq.1_Missense_Mutation_p.Y138C	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	200	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			GATAGAGAGTATGCACTTTTT	0.289													G	154263973	A	G	154263973	3	3	189	1	0	0	0	0	1	0	0	0	4730	449	16	3	733	3	DPP6	7	154263973	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2397704	154263973	4874690	2151	100008											
DPP6	1804	broad.mit.edu	37	chr7	154679440	154679440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacttgacaacagagcatAcgaggtgtgtatgggcacaa	13	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:154679440A>G	uc003wlk.2	+	23	2429	c.2300A>G	c.(2299-2301)TAC>TGC	p.Y767C	DPP6_uc003wli.2_Missense_Mutation_p.Y703C|DPP6_uc003wlm.2_Missense_Mutation_p.Y705C|DPP6_uc011kvq.1_Missense_Mutation_p.Y660C	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	767	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			AACAGAGCATACGAGGTGTGT	0.582													G	154679440	A	G	154679440	3	3	189	1	0	0	0	0	1	0	0	0	4730	391	14	3	2506	3	DPP6	7	154679440	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	415467	154679440	4459223	2152	100009											
PAXIP1	22976	broad.mit.edu	37	chr7	154748932	154748932	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttaaggttattactcatAcctggctcttttggaagaag	8	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:154748932A>G	uc003wlp.2	-	14	2592	c.2549_splice	c.e14+1	p.R850_splice	PAXIP1_uc003wlq.1_Splice_Site_p.R816_splice|PAXIP1_uc011kvs.1_Splice_Site_p.R814_splice	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1						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				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	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)		TATTACTCATACCTGGCTCTT	0.358													G	154748932	A	G	154748932	5	3	189	1	0	0	0	0	0	0	1	0	11487	405	14	3	690	3	PAXIP1	7	154748932	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	69492	154748932	4389731	2153	100010											
RBM33	155435	broad.mit.edu	37	chr7	155531064	155531064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggcccaggacagccGtttctgcccacacacacaca	8	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:155531064G>A	uc010lqk.1	+	11	2072	c.1704G>A	c.(1702-1704)CCG>CCA	p.P568P	RBM33_uc011kvv.1_Silent_p.P377P	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	568	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	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)		CAGGACAGCCGTTTCTGCCCA	0.557													A	155531064	G	A	155531064	2	1	189	1	0	0	0	0	0	0	0	1	13130	1132	40	1		1	RBM33	7	155531064	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	782132	155531064	3607599	2154	100011											
RNF32	140545	broad.mit.edu	37	chr7	156437357	156437357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatacaaaggcaataatAgatactggacttaaaaaaac	7	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:156437357A>G	uc003wmo.2	+	3	362	c.180A>G	c.(178-180)ATA>ATG	p.I60M	RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.I60M|RNF32_uc003wmp.2_Missense_Mutation_p.I60M|RNF32_uc003wmq.2_Missense_Mutation_p.I60M|RNF32_uc003wmr.2_Missense_Mutation_p.I60M|RNF32_uc003wms.2_Missense_Mutation_p.I60M|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.I60M	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	60						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGGCAATAATAGATACTGGAC	0.368													G	156437357	A	G	156437357	3	3	189	1	0	0	0	0	1	0	0	0	13488	410	15	3	186	3	RNF32	7	156437357	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	906293	156437357	2701306	2155	100012											
UBE3C	9690	broad.mit.edu	37	chr7	157000100	157000100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaattcaaggtctatggTaccgttgcttcaggtgatat	9	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:157000100T>C	uc010lqs.2	+	12	1739	c.1427T>C	c.(1426-1428)GTA>GCA	p.V476A	UBE3C_uc003wng.2_Missense_Mutation_p.V476A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	476					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		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)		AGGTCTATGGTACCGTTGCTT	0.323													C	157000100	T	C	157000100	3	2	189	1	0	0	0	0	1	0	0	0	16878	1638	57	3	1473	3	UBE3C	7	157000100	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	562743	157000100	2138563	2156	100013											
PTPRN2	5799	broad.mit.edu	37	chr7	157414139	157414139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggctccgcctggtaggcGcacagcgcttcccactcctt	11	16	0	0	rs77143062	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:157414139G>A	uc003wno.2	-	15	2380	c.2259C>T	c.(2257-2259)TGC>TGT	p.C753C	PTPRN2_uc003wnp.2_Silent_p.C736C|PTPRN2_uc003wnq.2_Silent_p.C724C|PTPRN2_uc003wnr.2_Silent_p.C715C|PTPRN2_uc011kwa.1_Silent_p.C776C	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	753	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	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)		CCTGGTAGGCGCACAGCGCTT	0.622													A	157414139	G	A	157414139	2	1	189	1	0	0	0	0	0	0	0	1	12808	1079	38	1		1	PTPRN2	7	157414139	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	414039	157414139	1724524	2157	100014											
NCAPG2	54892	broad.mit.edu	37	chr7	158472666	158472666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtacatagagctcttcaaActgtttctggatttcactat	6	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr7:158472666A>G	uc003wnv.1	-	11	1277	c.1132T>C	c.(1132-1134)TTT>CTT	p.F378L	NCAPG2_uc010lqu.1_Missense_Mutation_p.F170L|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.F378L|NCAPG2_uc011kwe.1_Missense_Mutation_p.F378L	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	378					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	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)		AGCTCTTCAAACTGTTTCTGG	0.428													G	158472666	A	G	158472666	3	3	189	1	0	0	0	0	1	0	0	0	10208	43	2	3	2371	3	NCAPG2	7	158472666	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1058527	158472666	665997	2158	100015											
DLGAP2	9228	broad.mit.edu	37	chr8	1497600	1497600	+	Frame_Shift_Del	DEL	C	C	-													ggccccgtggcccactgctaCcccgacgcgctgcagagccc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:1497599_1497599AC>A	uc003wpl.3	+	1	837	c.740_740AC>A	c.(739-741)tacfs	p.Y247fs	DLGAP2_uc003wpm.3_Frame_Shift_Del_p.Y247fs	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	326					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)		GCCCACTGCTACCCCGACGCG	0.667													-	1497600	C	-	1497600	7	5	189	1	0	1	0	1	0	0	0	0	4560	518	18	0	743	0	DLGAP2	8	1497600	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08		1497600	144866422	2159	100016											
DLGAP2	9228	broad.mit.edu	37	chr8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttaaacgttctaacagcGtcacggccgccgtccaagct	9	13	2	0	rs34274599		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:1626408G>A	uc003wpl.2	+	9	2174	c.2077G>A	c.(2077-2079)GTC>ATC	p.V693I	DLGAP2_uc003wpm.2_Missense_Mutation_p.V679I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	772					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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													A	1626408	G	A	1626408	3	1	189	1	0	0	0	0	1	0	0	0	4560	1145	40	1	2107	1	DLGAP2	8	1626408	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	128808	1626408	144737614	2160	100017											
ARHGEF10	9639	broad.mit.edu	37	chr8	1893759	1893759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctccgcctttttcacaCggaaactctcaagcacctgc	6	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:1893759C>T	uc003wpr.2	+	27	3513	c.3335C>T	c.(3334-3336)ACG>ATG	p.T1112M	ARHGEF10_uc003wps.2_Missense_Mutation_p.T1074M|ARHGEF10_uc010lre.2_Missense_Mutation_p.T763M	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1137					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			large_intestine(1)	1		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)		CTTTTTCACACGGAAACTCTC	0.612													T	1893759	C	T	1893759	3	4	189	1	0	0	0	0	1	0	0	0	894	536	19	1	3437	1	ARHGEF10	8	1893759	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	267351	1893759	144470263	2161	100018											
CSMD1	64478	broad.mit.edu	37	chr8	3263618	3263618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcaggtaatggactcggAtccctgggtcttgacaaagc	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:3263618A>G	uc011kwk.1	-	15	2590	c.2200T>C	c.(2200-2202)TCC>CCC	p.S734P	CSMD1_uc011kwj.1_Missense_Mutation_p.S126P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	734	Sushi 4.|Extracellular (Potential).					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)		ATGGACTCGGATCCCTGGGTC	0.567													G	3263618	A	G	3263618	3	3	189	1	0	0	0	0	1	0	0	0	3944	333	12	3	8721	3	CSMD1	8	3263618	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1369859	3263618	143100404	2162	100019											
CSMD1	64478	broad.mit.edu	37	chr8	3265725	3265725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaataatcccagatgatgcCgtaaagttgaagaaacatga	9	6	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:3265725C>T	uc011kwk.1	-	14	2160	c.1770G>A	c.(1768-1770)ACG>ACA	p.T590T	CSMD1_uc011kwj.1_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	590	Extracellular (Potential).|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)		CAGATGATGCCGTAAAGTTGA	0.383													T	3265725	C	T	3265725	2	4	189	1	0	0	0	0	0	0	0	1	3944	639	23	1		1	CSMD1	8	3265725	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2107	3265725	143098297	2163	100020											
MCPH1	79648	broad.mit.edu	37	chr8	6302320	6302320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaaagagaaaaagagtAtcacatggctcccattcacc	7	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:6302320A>G	uc003wqi.2	+	8	1145	c.1077A>G	c.(1075-1077)GTA>GTG	p.V359V	MCPH1_uc003wqh.2_Silent_p.V359V|MCPH1_uc011kwl.1_Silent_p.V311V	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	359						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAAAGAGTATCACATGGCT	0.458													G	6302320	A	G	6302320	2	3	189	1	0	0	0	0	0	0	0	1	9398	436	16	3		3	MCPH1	8	6302320	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3036595	6302320	140061702	2164	100021											
ANGPT2	285	broad.mit.edu	37	chr8	6360765	6360765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagttggaaggaccacAtgcatcaaaccaccagcctg	9	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:6360765A>G	uc003wqj.3	-	9	1677	c.1348T>C	c.(1348-1350)TGT>CGT	p.C450R	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.C449R|ANGPT2_uc010lri.2_Missense_Mutation_p.C398R	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	450	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			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GAAGGACCACATGCATCAAAC	0.458													G	6360765	A	G	6360765	3	3	189	1	0	0	0	0	1	0	0	0	611	217	8	3	146	3	ANGPT2	8	6360765	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	58445	6360765	140003257	2165	100022											
SGK223	157285	broad.mit.edu	37	chr8	8235521	8235521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacacctcggaagctgcccAggtagacgacgggggcatcc	14	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:8235521A>G	uc003wsh.3	-	2	398	c.398T>C	c.(397-399)CTG>CCG	p.L133P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	133							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GAAGCTGCCCAGGTAGACGAC	0.592													G	8235521	A	G	8235521	3	3	189	1	0	0	0	0	1	0	0	0	14210	188	7	3	3826	3	SGK223	8	8235521	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1874756	8235521	138128501	2166	100023											
CLDN23	137075	broad.mit.edu	37	chr8	8560303	8560303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcggcctcatcccggTgtcctggtacaaccacttct	7	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:8560303T>G	uc003wsi.2	+	1	638	c.395T>G	c.(394-396)GTG>GGG	p.V132G		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	132	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTCATCCCGGTGTCCTGGTAC	0.697													G	8560303	T	G	8560303	3	3	189	1	0	0	0	0	1	0	0	0	3484	1696	59	5	397	5	CLDN23	8	8560303	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	324782	8560303	137803719	2167	100024											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998516	8998516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacgtctgtccattgcActcgtagtacacagcaaact	7	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:8998516A>G	uc003wsn.3	-	2	811	c.646T>C	c.(646-648)TGC>CGC	p.C216R	PPP1R3B_uc003wso.3_Missense_Mutation_p.C215R	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	216	CBM21.				glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TGTCCATTGCACTCGTAGTAC	0.498													G	8998516	A	G	8998516	3	3	189	1	0	0	0	0	1	0	0	0	12372	159	6	3	215	3	PPP1R3B	8	8998516	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	438213	8998516	137365506	2168	100025											
TNKS	8658	broad.mit.edu	37	chr8	9609199	9609199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaacctcaggctactgtAgtgagtgcctctctgatctc	8	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:9609199A>G	uc003wss.2	+	19	2918	c.2913A>G	c.(2911-2913)GTA>GTG	p.V971V	TNKS_uc011kww.1_Silent_p.V734V|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	971					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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		AGGCTACTGTAGTGAGTGCCT	0.512													G	9609199	A	G	9609199	2	3	189	1	0	0	0	0	0	0	0	1	16316	407	15	3		3	TNKS	8	9609199	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	610683	9609199	136754823	2169	100026											
TNKS	8658	broad.mit.edu	37	chr8	9623891	9623891	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggaattggaggaggaacAggctgccctacacacaagga	13	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:9623891A>G	uc003wss.2	+	25	3701	c.3696A>G	c.(3694-3696)ACA>ACG	p.T1232T	TNKS_uc011kww.1_Silent_p.T995T	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1232	PARP catalytic.				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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GAGGAGGAACAGGCTGCCCTA	0.448													G	9623891	A	G	9623891	2	3	189	1	0	0	0	0	0	0	0	1	16316	175	7	3		3	TNKS	8	9623891	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14692	9623891	136740131	2170	100027											
RP1L1	94137	broad.mit.edu	37	chr8	10469723	10469723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgaagtgcaggtggAaggggtggaagaggctcctt	19	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:10469723A>G	uc003wtc.2	-	4	2114	c.1885T>C	c.(1885-1887)TCC>CCC	p.S629P		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	629					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GTGCAGGTGGAAGGGGTGGAA	0.662													G	10469723	A	G	10469723	3	3	189	1	0	0	0	0	1	0	0	0	13533	246	9	3	5321	3	RP1L1	8	10469723	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	845832	10469723	135894299	2171	100028											
SOX7	83595	broad.mit.edu	37	chr8	10583646	10583646	+	Frame_Shift_Del	DEL	G	G	-													gccaagggccagggagcccaGggggtggctacagtggagag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:10583645_10583645AG>A	uc011kwz.2	-	5	959	c.926_926CT>T	c.(925-927)ctgfs	p.L309fs	SOX7_uc003wtf.3_Frame_Shift_Del_p.L257fs	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	257	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)		CAGGGAGCCCAGGGGGTGGCT	0.687													-	10583646	G	-	10583646	7	5	189	1	0	1	0	1	0	0	0	0	14956	991	35	0	401	0	SOX7	8	10583646	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	113923	10583646	135780376	2172	100029											
PINX1	54984	broad.mit.edu	37	chr8	10677706	10677706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgtggctttatacctcGggagtcttcttactctgtct	9	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:10677706G>A	uc003wth.2	-	6	501	c.468C>T	c.(466-468)CCC>CCT	p.P156P	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Intron	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	156					mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTTATACCTCGGGAGTCTTCT	0.403													A	10677706	G	A	10677706	2	1	189	1	0	0	0	0	0	0	0	1	11933	1103	39	1		1	PINX1	8	10677706	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	94060	10677706	135686316	2173	100030											
MTMR9	66036	broad.mit.edu	37	chr8	11162509	11162510	+	Frame_Shift_Ins	INS	-	-	A													agtactaagctattaccacaINSaaaaaaatgggatggtaagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:11162508_11162509C>CA	uc003wtm.3	+	3	974_975	c.576_577C>CA	c.(574-579)cacaaafs	p.H192fs	MTMR9_uc010lrx.3_Frame_Shift_Ins_p.H85fs|MTMR9_uc011kxa.2_Frame_Shift_Ins_p.H107fs	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	192	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GCTATTACCACAAAAAAAATGG	0.455													A	11162510	-	A	11162509	7	5	189	1	0	1	1	0	0	0	0	0	9950	131	5	0	591	0	MTMR9	8	11162509	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	484803	11162509	135201513	2174	100031											
BLK	640	broad.mit.edu	37	chr8	11405571	11405571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggctctgtatgactAcaccgctatgaatgatcggg	13	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:11405571A>G	uc003wty.2	+	4	787	c.206A>G	c.(205-207)TAC>TGC	p.Y69C	BLK_uc003wtz.2_5'UTR	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	69	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTGTATGACTACACCGCTATG	0.567													G	11405571	A	G	11405571	3	3	189	1	0	0	0	0	1	0	0	0	1444	391	14	3	216	3	BLK	8	11405571	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	243062	11405571	134958451	2175	100032											
BLK	640	broad.mit.edu	37	chr8	11420560	11420560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccatcaaagcagacgTgtggtcgtttggagtcctcc	10	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:11420560T>C	uc003wty.2	+	12	1834	c.1253T>C	c.(1252-1254)GTG>GCG	p.V418A	BLK_uc003wtz.2_Missense_Mutation_p.V347A|BLK_uc003wua.2_Missense_Mutation_p.V254A	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	418	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AAAGCAGACGTGTGGTCGTTT	0.597													C	11420560	T	C	11420560	3	2	189	1	0	0	0	0	1	0	0	0	1444	1696	59	3	1295	3	BLK	8	11420560	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	14989	11420560	134943462	2176	100033											
USP17L2	377630	broad.mit.edu	37	chr8	11995092	11995092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcttcagcgccgaggGctcttggttccctgcctctt	11	14	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:11995092G>A	uc003wvc.1	-	1	1178	c.1178C>T	c.(1177-1179)GCC>GTC	p.A393V	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	393					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			skin(2)|upper_aerodigestive_tract(1)	3						AGCGCCGAGGGCTCTTGGTTC	0.557													A	11995092	G	A	11995092	3	1	189	1	0	0	0	0	1	0	0	0	17045	1203	42	2	418	2	USP17L2	8	11995092	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	574532	11995092	134368930	2177	100034											
DLC1	10395	broad.mit.edu	37	chr8	12957275	12957275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagttccttggggctgtcGctactgttttccctcctgag	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:12957275G>A	uc003wwm.2	-	9	3015	c.2571C>T	c.(2569-2571)AGC>AGT	p.S857S	DLC1_uc003wwk.1_Silent_p.S420S|DLC1_uc003wwl.1_Silent_p.S454S|DLC1_uc011kxx.1_Silent_p.S346S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	857					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGGGCTGTCGCTACTGTTTT	0.582													A	12957275	G	A	12957275	2	1	189	1	0	0	0	0	0	0	0	1	4550	1078	38	1		1	DLC1	8	12957275	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	962183	12957275	133406747	2178	100035											
ZDHHC2	51201	broad.mit.edu	37	chr8	17067924	17067925	+	Frame_Shift_Ins	INS	-	-	T													atggctgctcctttccaactINStgccttgttaaccaggatcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:17067923_17067924C>CT	uc003wxe.3	+	9	1281_1282	c.884_885C>CT	c.(883-885)actfs	p.T295fs		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	295						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TCCTTTCCAACTTGCCTTGTTA	0.371													T	17067925	-	T	17067924	7	5	189	1	0	1	1	0	0	0	0	0	17607	1596	56	0	923	0	ZDHHC2	8	17067924	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	4110649	17067924	129296098	2179	100036											
SLC7A2	6542	broad.mit.edu	37	chr8	17407891	17407891	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacgggaacgttggctggTgctgcaacttgcttttatgc	12	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:17407891T>C	uc011kyc.1	+	5	949	c.780T>C	c.(778-780)GGT>GGC	p.G260G	SLC7A2_uc011kyd.1_Silent_p.G300G|SLC7A2_uc011kye.1_Silent_p.G300G|SLC7A2_uc011kyf.1_Silent_p.G260G	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	260	Helical; (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTTGGCTGGTGCTGCAACTT	0.463													C	17407891	T	C	17407891	2	2	189	1	0	0	0	0	0	0	0	1	14697	1683	59	3		3	SLC7A2	8	17407891	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	339967	17407891	128956131	2180	100037											
MTUS1	57509	broad.mit.edu	37	chr8	17611702	17611703	+	Frame_Shift_Ins	INS	-	-	CA													actgatgagggtgatgaggcINSactggtctgctgaggtctgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:17611701_17611702G>GCA	uc003wxv.3	-	1	2089_2090	c.1615_1616C>TGC	c.(1615-1617)gccfs	p.A539fs	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Ins_p.A539fs|MTUS1_uc010lsz.3_Frame_Shift_Ins_p.A539fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	539						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)		GGGTGATGAGGCACTGGTCTGC	0.426													CA	17611703	-	CA	17611702	7	5	189	1	0	1	1	0	0	0	0	0	9965	710	25	0	2572	0	MTUS1	8	17611702	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	203811	17611702	128752320	2181	100038											
XPO7	23039	broad.mit.edu	37	chr8	21856749	21856749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtctctatggagacgAtgccctggacaatgctctgc	10	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:21856749A>G	uc003xaa.3	+	23	2678	c.2576A>G	c.(2575-2577)GAT>GGT	p.D859G	XPO7_uc010lti.2_Missense_Mutation_p.D868G|XPO7_uc010ltk.2_Missense_Mutation_p.D860G	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	859					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TATGGAGACGATGCCCTGGAC	0.502													G	21856749	A	G	21856749	3	3	189	1	0	0	0	0	1	0	0	0	17446	333	12	3	2718	3	XPO7	8	21856749	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4245047	21856749	124507273	2182	100039											
XPO7	23039	broad.mit.edu	37	chr8	21857143	21857143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggaacctcacgtcatcAtgtatattctctcttccatt	5	13	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:21857143A>G	uc003xaa.3	+	24	2842	c.2740A>G	c.(2740-2742)ATG>GTG	p.M914V	XPO7_uc010lti.2_Missense_Mutation_p.M923V|XPO7_uc010ltk.2_Missense_Mutation_p.M915V	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	914					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TCACGTCATCATGTATATTCT	0.443													G	21857143	A	G	21857143	3	3	189	1	0	0	0	0	1	0	0	0	17446	217	8	3	2886	3	XPO7	8	21857143	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	394	21857143	124506879	2183	100040											
FAM160B2	64760	broad.mit.edu	37	chr8	21956814	21956814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggttgcggacgccttggCgaaggctgtggctgagaact	18	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:21956814C>T	uc011kyx.1	+	9	1145	c.1094C>T	c.(1093-1095)GCG>GTG	p.A365V	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	365											0						GACGCCTTGGCGAAGGCTGTG	0.562													T	21956814	C	T	21956814	3	4	189	1	0	0	0	0	1	0	0	0	5471	768	27	1	927	1	FAM160B2	8	21956814	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	99671	21956814	124407208	2184	100041											
PIWIL2	55124	broad.mit.edu	37	chr8	22175773	22175773	+	Frame_Shift_Del	DEL	A	A	-													ctatgcctcgtgggctccttAaaaaagttttatgaggtgag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:22175772_22175772TA>T	uc003xbn.2	+	19	2535	c.2387_2387TA>T	c.(2386-2388)ttafs	p.L796fs	PIWIL2_uc011kzf.1_Frame_Shift_Del_p.L796fs|PIWIL2_uc010ltv.2_Frame_Shift_Del_p.L796fs	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	796	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|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)		GTGGGCTCCTTAAAAAAGTTT	0.458													-	22175773	A	-	22175773	7	5	189	1	0	1	0	1	0	0	0	0	11958	359	13	0	2462	0	PIWIL2	8	22175773	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	218959	22175773	124188249	2185	100042											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864617	22864617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacaagatctacctctccAcctcttcctccaagttctat	2	18	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:22864617A>G	uc003xcq.2	+	5	1396	c.859A>G	c.(859-861)ACC>GCC	p.T287A	RHOBTB2_uc003xcp.2_Missense_Mutation_p.T309A|RHOBTB2_uc011kzp.1_Missense_Mutation_p.T294A|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	287	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTACCTCTCCACCTCTTCCTC	0.657													G	22864617	A	G	22864617	3	3	189	1	0	0	0	0	1	0	0	0	13334	159	6	3	958	3	RHOBTB2	8	22864617	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	688844	22864617	123499405	2186	100043											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22900649	22900649	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagacccatcttgaacatAccaggtggacacaatccctc	7	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:22900649A>G	uc003xcu.2	-	2	543	c.250_splice	c.e2+1	p.G84_splice	TNFRSF10B_uc003xct.2_Splice_Site_p.G84_splice|TNFRSF10B_uc011kzq.1_Intron|TNFRSF10B_uc003xcv.2_Splice_Site	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,						activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCTTGAACATACCAGGTGGAC	0.527													G	22900649	A	G	22900649	5	3	189	1	0	0	0	0	0	0	1	0	16278	405	14	3	1102	3	TNFRSF10B	8	22900649	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	36032	22900649	123463373	2187	100044											
CHMP7	91782	broad.mit.edu	37	chr8	23112844	23112844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtcagagctcagcaccCtctgtgctaactcctgccca	7	18	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:23112844C>A	uc003xdc.2	+	4	1204	c.556C>A	c.(556-558)CTC>ATC	p.L186I	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Missense_Mutation_p.L76I|CHMP7_uc003xde.2_Missense_Mutation_p.L44I	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	186					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCTCAGCACCCTCTGTGCTAA	0.577													A	23112844	C	A	23112844	3	1	189	1	0	0	0	0	1	0	0	0	3361	681	24	5	566	5	CHMP7	8	23112844	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	212195	23112844	123251178	2188	100045											
LOXL2	4017	broad.mit.edu	37	chr8	23174508	23174508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcactccgccctggggGcaggccacgtcctccccgtc	11	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:23174508G>A	uc003xdh.1	-	9	1929	c.1590C>T	c.(1588-1590)TGC>TGT	p.C530C	LOXL2_uc010lty.1_Silent_p.C69C	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	530	SRCR 4.				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)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCCCTGGGGGCAGGCCACGT	0.657													A	23174508	G	A	23174508	2	1	189	1	0	0	0	0	0	0	0	1	8900	1195	42	2		2	LOXL2	8	23174508	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	61664	23174508	123189514	2189	100046											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24249828	24249828	+	Frame_Shift_Del	DEL	A	A	-													tccatgaaatagtttgtcctAaaaaacttcacattttacac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:24249827_24249827TA>T	uc003xdz.2	+	1	361	c.141_141TA>T	c.(139-141)cctfs	p.P47fs	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_Intron	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	47					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)		TAGTTTGTCCTAAAAAACTTC	0.348													-	24249828	A	-	24249828	7	5	189	1	0	1	0	1	0	0	0	0	254	363	13	0	148	0	ADAMDEC1	8	24249828	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1075320	24249828	122114194	2190	100047											
KCTD9	54793	broad.mit.edu	37	chr8	25287452	25287452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttggaccctctcaggTtggcttcttgaagatcacac	9	12	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:25287452T>C	uc003xeo.2	-	12	1249	c.1091A>G	c.(1090-1092)AAC>AGC	p.N364S	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	364	Pentapeptide repeat 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CCCTCTCAGGTTGGCTTCTTG	0.418													C	25287452	T	C	25287452	3	2	189	1	0	0	0	0	1	0	0	0	8116	1725	60	3	82	3	KCTD9	8	25287452	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1037624	25287452	121076570	2191	100048											
CDCA2	157313	broad.mit.edu	37	chr8	25364485	25364485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgaaagaaaggatgActtcttaggagctgcagaag	13	4	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:25364485A>G	uc003xep.1	+	15	2782	c.2303A>G	c.(2302-2304)GAC>GGC	p.D768G	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.D753G|CDCA2_uc003xer.1_Missense_Mutation_p.D431G	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	768					cell division|mitosis	cytoplasm|nucleus					0		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)		AGAAAGGATGACTTCTTAGGA	0.353													G	25364485	A	G	25364485	3	3	189	1	0	0	0	0	1	0	0	0	3086	275	10	3	2357	3	CDCA2	8	25364485	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	77033	25364485	120999537	2192	100049											
PTK2B	2185	broad.mit.edu	37	chr8	27297910	27297910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgacccgctgctgggactAcgaccccagtgaccggcccc	11	18	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:27297910A>G	uc003xfn.1	+	26	2799	c.1991A>G	c.(1990-1992)TAC>TGC	p.Y664C	PTK2B_uc003xfo.1_Missense_Mutation_p.Y664C|PTK2B_uc003xfp.1_Missense_Mutation_p.Y664C|PTK2B_uc003xfq.1_Missense_Mutation_p.Y664C|PTK2B_uc003xfr.1_Missense_Mutation_p.Y410C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	664	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGCTGGGACTACGACCCCAGT	0.647													G	27297910	A	G	27297910	3	3	189	1	0	0	0	0	1	0	0	0	12763	391	14	3	2069	3	PTK2B	8	27297910	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1933425	27297910	119066112	2193	100050											
KIF13B	23303	broad.mit.edu	37	chr8	28980934	28980934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaggggaccatcaccGcgttcctctcctcagttagg	11	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:28980934G>A	uc003xhh.3	-	28	3487	c.3428C>T	c.(3427-3429)GCG>GTG	p.A1143V	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1143	Potential.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GACCATCACCGCGTTCCTCTC	0.542													A	28980934	G	A	28980934	3	1	189	1	0	0	0	0	1	0	0	0	8275	1087	38	1	2104	1	KIF13B	8	28980934	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1683024	28980934	117383088	2194	100051											
GSR	2936	broad.mit.edu	37	chr8	30560691	30560691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgtactttttcccacTgacctctattgtgggcttgg	12	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:30560691T>C	uc003xih.1	-	5	650	c.559A>G	c.(559-561)AGT>GGT	p.S187G		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	187					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TTTTTCCCACTGACCTCTATT	0.517													C	30560691	T	C	30560691	3	2	189	1	0	0	0	0	1	0	0	0	6828	1580	55	3	1045	3	GSR	8	30560691	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1579757	30560691	115803331	2195	100052											
TEX15	56154	broad.mit.edu	37	chr8	30705316	30705316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaactgtcatgagctgtTtctatgttataagatgaaat	8	4	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:30705316T>C	uc003xil.2	-	1	1218	c.1218A>G	c.(1216-1218)GAA>GAG	p.E406E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	406										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATGAGCTGTTTCTATGTTAT	0.348													C	30705316	T	C	30705316	2	2	189	1	0	0	0	0	0	0	0	1	15776	1838	64	3		3	TEX15	8	30705316	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	144625	30705316	115658706	2196	100053											
PURG	29942	broad.mit.edu	37	chr8	30889698	30889698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcccccgcatcatggTttgtctaatccgtaggaagc	10	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:30889698T>C	uc003xin.2	-	1	620	c.601A>G	c.(601-603)ACC>GCC	p.T201A	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.T201A	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	201	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CGCATCATGGTTTGTCTAATC	0.458													C	30889698	T	C	30889698	3	2	189	1	0	0	0	0	1	0	0	0	12829	1725	60	3	555	3	PURG	8	30889698	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	184382	30889698	115474324	2197	100054											
WRN	7486	broad.mit.edu	37	chr8	30977830	30977830	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccaagtcattcattacggTgctcctaaggacatggaatc	9	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:30977830T>G	uc003xio.3	+	21	3308	c.2520T>G	c.(2518-2520)GGT>GGG	p.G840G	WRN_uc010lvk.2_Silent_p.G307G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	840	Helicase C-terminal.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCATTACGGTGCTCCTAAGG	0.433			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				G	30977830	T	G	30977830	2	3	189	1	0	0	0	0	0	0	0	1	17399	1683	59	5		5	WRN	8	30977830	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	88132	30977830	115386192	2198	100055											
C8orf41	80185	broad.mit.edu	37	chr8	33369912	33369912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggcattccgcggagccGtgcaccagtcccctcaaata	9	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:33369912G>A	uc003xjl.3	-	1	745	c.220C>T	c.(220-222)CGG>TGG	p.R74W	C8orf41_uc003xjk.3_Missense_Mutation_p.R74W|C8orf41_uc010lvv.2_Missense_Mutation_p.R74W|C8orf41_uc003xjm.3_Missense_Mutation_p.R74W|C8orf41_uc003xjn.1_Missense_Mutation_p.R74W	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	74							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CCGCGGAGCCGTGCACCAGTC	0.542													A	33369912	G	A	33369912	3	1	189	1	0	0	0	0	1	0	0	0	2427	1144	40	1	1334	1	C8orf41	8	33369912	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2392082	33369912	112994110	2199	100056											
KCNU1	157855	broad.mit.edu	37	chr8	36766982	36766982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaggacatagtgttcAttgggtctctggactatcta	11	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:36766982A>C	uc010lvw.2	+	21	2347	c.2260A>C	c.(2260-2262)ATT>CTT	p.I754L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	754	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CATAGTGTTCATTGGGTCTCT	0.443													C	36766982	A	C	36766982	3	2	189	1	0	0	0	0	1	0	0	0	8093	217	8	5	2342	5	KCNU1	8	36766982	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3397070	36766982	109597040	2200	100057											
PROSC	11212	broad.mit.edu	37	chr8	37635559	37635559	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggattactcaaagaaAcccaccccggacaagtgcgc	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:37635559A>G	uc003xkh.2	+	8	842	c.765A>G	c.(763-765)AAA>AAG	p.K255K		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	255							pyridoxal phosphate binding			central_nervous_system(1)	1		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)	ACTCAAAGAAACCCACCCCGG	0.517													G	37635559	A	G	37635559	2	3	189	1	0	0	0	0	0	0	0	1	12559	40	2	3		3	PROSC	8	37635559	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	868577	37635559	108728463	2201	100058											
GPR124	25960	broad.mit.edu	37	chr8	37698297	37698297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttctatttgatcgctggaGggattccactcattatctgt	10	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:37698297G>T	uc003xkj.2	+	18	3040	c.2677G>T	c.(2677-2679)GGG>TGG	p.G893W	GPR124_uc010lvy.2_Missense_Mutation_p.G676W	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	893	Helical; Name=4; (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GATCGCTGGAGGGATTCCACT	0.562													T	37698297	G	T	37698297	3	4	189	1	0	0	0	0	1	0	0	0	6638	1000	35	5	2726	5	GPR124	8	37698297	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	62738	37698297	108665725	2202	100059											
GPR124	25960	broad.mit.edu	37	chr8	37699017	37699017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtgcagctgcttgtAcggggtggcagcctccgccc	17	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:37699017A>G	uc003xkj.2	+	19	3524	c.3161A>G	c.(3160-3162)TAC>TGC	p.Y1054C	GPR124_uc010lvy.2_Missense_Mutation_p.Y837C	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	1054	Helical; Name=7; (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGCTGCTTGTACGGGGTGGCA	0.701													G	37699017	A	G	37699017	3	3	189	1	0	0	0	0	1	0	0	0	6638	391	14	3	3214	3	GPR124	8	37699017	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	720	37699017	108665005	2203	100060											
DDHD2	23259	broad.mit.edu	37	chr8	38092104	38092104	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccaagttttagaggTattcttttgactcttttttt	6	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:38092104T>C	uc003xlb.2	+	3	788	c.411_splice	c.e3+2	p.E137_splice	DDHD2_uc003xla.2_Splice_Site_p.E137_splice|DDHD2_uc003xlc.2_Splice_Site_p.E137_splice|DDHD2_uc011lbl.1_Splice_Site	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1						lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GTTTTAGAGGTATTCTTTTGA	0.348													C	38092104	T	C	38092104	5	2	189	1	0	0	0	0	0	0	1	0	4327	1652	57	3	419	3	DDHD2	8	38092104	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	393087	38092104	108271918	2204	100061											
LETM2	137994	broad.mit.edu	37	chr8	38250157	38250157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaaataagacatgtatgAagaactatgagagcaagaag	9	3	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:38250157A>G	uc003xlm.1	+	3	175	c.4A>G	c.(4-6)AAG>GAG	p.K2E	LETM2_uc003xlk.2_Missense_Mutation_p.K49E|LETM2_uc011lbn.1_5'UTR|LETM2_uc003xll.1_Missense_Mutation_p.K2E|LETM2_uc003xln.1_5'UTR|LETM2_uc003xlo.1_5'UTR	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	49	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GACATGTATGAAGAACTATGA	0.423													G	38250157	A	G	38250157	3	3	189	1	0	0	0	0	1	0	0	0	8735	247	9	3	6	3	LETM2	8	38250157	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	158053	38250157	108113865	2205	100062											
FGFR1	2260	broad.mit.edu	37	chr8	38274851	38274851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcaggcccccagcaggtTgatgatattcttatgcttcc	10	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:38274851T>C	uc003xlp.2	-	13	2578	c.1636A>G	c.(1636-1638)AAC>GAC	p.N546D	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.N544D|FGFR1_uc011lbp.1_Missense_Mutation_p.N457D|FGFR1_uc011lbq.1_Missense_Mutation_p.N455D|FGFR1_uc010lwk.2_Missense_Mutation_p.N536D	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	546	Cytoplasmic (Potential).|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	p.N546K(1)		lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	CCCAGCAGGTTGATGATATTC	0.542		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						C	38274851	T	C	38274851	3	2	189	1	0	0	0	0	1	0	0	0	5863	1812	63	3	860	3	FGFR1	8	38274851	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	24694	38274851	108089171	2206	100063											
ADAM32	203102	broad.mit.edu	37	chr8	39044429	39044429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgttgttattatagtAccccaaggagataactctgg	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:39044429A>G	uc003xmt.3	+	11	1162	c.917A>G	c.(916-918)TAC>TGC	p.Y306C	ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	306	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		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)			TTATTATAGTACCCCAAGGAG	0.318													G	39044429	A	G	39044429	3	3	189	1	0	0	0	0	1	0	0	0	249	405	14	3	959	3	ADAM32	8	39044429	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	769578	39044429	107319593	2207	100064											
ADAM18	8749	broad.mit.edu	37	chr8	39525631	39525631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacttatgcattgaatggcCgtttgtgcaagttgggaact	11	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:39525631C>T	uc003xni.2	+	14	1441	c.1441C>T	c.(1441-1443)CGT>TGT	p.R481C	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.R457C	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	481	Cys-rich.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		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)			ATTGAATGGCCGTTTGTGCAA	0.398													T	39525631	C	T	39525631	3	4	189	1	0	0	0	0	1	0	0	0	239	652	23	1	1495	1	ADAM18	8	39525631	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	481202	39525631	106838391	2208	100065											
AGPAT6	137964	broad.mit.edu	37	chr8	41467407	41467407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attataacttccagtacatcAgccttcggctcacggtcctg	7	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:41467407A>G	uc003xnz.2	+	4	1408	c.469A>G	c.(469-471)AGC>GGC	p.S157G		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	157	Helical; (Potential).				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				0	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)			CCAGTACATCAGCCTTCGGCT	0.552													G	41467407	A	G	41467407	3	3	189	1	0	0	0	0	1	0	0	0	391	188	7	3	479	3	AGPAT6	8	41467407	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1941776	41467407	104896615	2209	100066											
FNTA	2339	broad.mit.edu	37	chr8	42939922	42939922	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgatttacaaccaagTcatagttccccctacctaat	3	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:42939922T>C	uc003xps.2	+	8	963	c.915T>C	c.(913-915)AGT>AGC	p.S305S	FNTA_uc003xpt.2_Silent_p.S214S|FNTA_uc003xpu.2_Silent_p.S238S|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	305					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	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)			TACAACCAAGTCATAGTTCCC	0.338													C	42939922	T	C	42939922	2	2	189	1	0	0	0	0	0	0	0	1	5977	1664	58	3		3	FNTA	8	42939922	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1472515	42939922	103424100	2210	100067											
HGSNAT	138050	broad.mit.edu	37	chr8	43002198	43002198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctactggaaatctgaatgcTgttatcacgtatgtatcagt	8	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:43002198T>C	uc003xpx.3	+	2	274	c.226T>C	c.(226-228)TGT>CGT	p.C76R		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	104	Lumenal, vesicle (Potential).		C -> F (in MPS3C; results in a negligible amount of protein synthesis and very low enzyme activity; retained in the endoplasmic reticulum and loss of intralysosomal proteolytic cleavage).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	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)			ATCTGAATGCTGTTATCACGT	0.408													C	43002198	T	C	43002198	3	2	189	1	0	0	0	0	1	0	0	0	7088	1580	55	3	232	3	HGSNAT	8	43002198	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	62276	43002198	103361824	2211	100068											
PRKDC	5591	broad.mit.edu	37	chr8	48701752	48701752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagagctgatctaaggcaTtaataaaatcttgaatcact	7	6	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:48701752T>C	uc003xqi.2	-	76	10775	c.10718A>G	c.(10717-10719)AAT>AGT	p.N3573S	PRKDC_uc003xqj.2_Missense_Mutation_p.N3573S|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3573					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCTAAGGCATTAATAAAATC	0.308								NHEJ					C	48701752	T	C	48701752	3	2	189	1	0	0	0	0	1	0	0	0	12521	1493	52	3	1716	3	PRKDC	8	48701752	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5699554	48701752	97662270	2212	100069											
PRKDC	5591	broad.mit.edu	37	chr8	48732055	48732055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttggtgtaagaggacaTcaatactagaataattctta	7	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:48732055T>C	uc003xqi.2	-	68	9410	c.9353A>G	c.(9352-9354)GAT>GGT	p.D3118G	PRKDC_uc003xqj.2_Missense_Mutation_p.D3118G|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3118	KIP-binding.|FAT.				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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAGAGGACATCAATACTAGA	0.299								NHEJ					C	48732055	T	C	48732055	3	2	189	1	0	0	0	0	1	0	0	0	12521	1435	50	3	3113	3	PRKDC	8	48732055	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	30303	48732055	97631967	2213	100070											
PRKDC	5591	broad.mit.edu	37	chr8	48774943	48774943	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtggcctaccttttctggTttttcactaaacagaaaacc	7	10	2	1	rs66507466		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:48774943T>C	uc003xqi.2	-	44	5967	c.5910A>G	c.(5908-5910)AAA>AAG	p.K1970K	PRKDC_uc003xqj.2_Silent_p.K1970K|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1970					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTTTTCTGGTTTTTCACTAA	0.363								NHEJ					C	48774943	T	C	48774943	2	2	189	1	0	0	0	0	0	0	0	1	12521	1722	60	3		3	PRKDC	8	48774943	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	42888	48774943	97589079	2214	100071											
PRKDC	5591	broad.mit.edu	37	chr8	48817531	48817531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggctcatacagttgcctTgtcacctgaagaaacaatac	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:48817531T>C	uc003xqi.2	-	26	2997	c.2940A>G	c.(2938-2940)ACA>ACG	p.T980T	PRKDC_uc003xqj.2_Silent_p.T980T|PRKDC_uc011ldh.1_Silent_p.T980T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	980					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACAGTTGCCTTGTCACCTGAA	0.353								NHEJ					C	48817531	T	C	48817531	2	2	189	1	0	0	0	0	0	0	0	1	12521	1799	63	3		3	PRKDC	8	48817531	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	42588	48817531	97546491	2215	100072											
PXDNL	137902	broad.mit.edu	37	chr8	52322005	52322005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccgtcgtgggcgcggtActtcgcatggaaacaccggt	15	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:52322005A>G	uc003xqu.3	-	17	2280	c.2179T>C	c.(2179-2181)TAC>CAC	p.Y727H	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	727					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGGCGCGGTACTTCGCATGG	0.667													G	52322005	A	G	52322005	3	3	189	1	0	0	0	0	1	0	0	0	12848	391	14	3	2240	3	PXDNL	8	52322005	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3504474	52322005	94042017	2216	100073											
PXDNL	137902	broad.mit.edu	37	chr8	52322094	52322094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgaggctgagggagcgcGgggacaccaagtcattgtac	16	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:52322094G>A	uc003xqu.3	-	17	2191	c.2090C>T	c.(2089-2091)CCG>CTG	p.P697L	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	697					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGGGAGCGCGGGGACACCAA	0.612													A	52322094	G	A	52322094	3	1	189	1	0	0	0	0	1	0	0	0	12848	1116	39	1	2329	1	PXDNL	8	52322094	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	89	52322094	94041928	2217	100074											
NPBWR1	2831	broad.mit.edu	37	chr8	53853400	53853400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctacgccttcctggaCgccagcttccgcaggaacct	8	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:53853400C>T	uc011ldu.1	+	1	933	c.933C>T	c.(931-933)GAC>GAT	p.D311D		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	311	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCTTCCTGGACGCCAGCTTCC	0.657													T	53853400	C	T	53853400	2	4	189	1	0	0	0	0	0	0	0	1	10568	535	19	1		1	NPBWR1	8	53853400	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1531306	53853400	92510622	2218	100075											
SOX17	64321	broad.mit.edu	37	chr8	55372532	55372532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgccagctccgcggtatatTactgcaactatcctgacgtg	9	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:55372532T>C	uc003xsb.3	+	2	1426	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	408	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGCGGTATATTACTGCAACTA	0.602													C	55372532	T	C	55372532	3	2	189	1	0	0	0	0	1	0	0	0	14947	1754	61	3	1228	3	SOX17	8	55372532	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1519132	55372532	90991490	2219	100076											
RP1	6101	broad.mit.edu	37	chr8	55534685	55534685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcttttaggttcccagCctccaggcagtgatcctgag	11	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:55534685C>T	uc003xsd.1	+	3	772	c.624C>T	c.(622-624)AGC>AGT	p.S208S	RP1_uc011ldy.1_Silent_p.S208S	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	208	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			skin(7)|ovary(4)|pancreas(1)	12		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)			AGGTTCCCAGCCTCCAGGCAG	0.433													T	55534685	C	T	55534685	2	4	189	1	0	0	0	0	0	0	0	1	13532	738	26	2		2	RP1	8	55534685	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	162153	55534685	90829337	2220	100077											
XKR4	114786	broad.mit.edu	37	chr8	56435964	56435964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcatcatccagttctgCtggcacttcttcaccatcgc	7	16	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:56435964C>T	uc003xsf.2	+	3	1163	c.1131C>T	c.(1129-1131)TGC>TGT	p.C377C		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	377	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAGTTCTGCTGGCACTTCT	0.572													T	56435964	C	T	56435964	2	4	189	1	0	0	0	0	0	0	0	1	17430	805	28	2		2	XKR4	8	56435964	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	901279	56435964	89928058	2221	100078											
PLAG1	5324	broad.mit.edu	37	chr8	57079754	57079754	+	Frame_Shift_Del	DEL	T	T	-													cacaatgttcgcactggtgcTttttttctttaaccccacca					rs141930943		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:57079753_57079753CT>C	uc003xsq.4	-	2	1003	c.552_552AG>G	c.(550-552)aagfs	p.K184fs	PLAG1_uc003xsr.4_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.K184fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.K102fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.K102fs	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	184	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					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)			CGCACTGGTGCTTTTTTTCTT	0.483			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								-	57079754	T	-	57079754	7	5	189	1	0	1	0	1	0	0	0	0	12018	1609	56	0	955	0	PLAG1	8	57079754	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	643790	57079754	89284268	2222	100079											
PENK	5179	broad.mit.edu	37	chr8	57353979	57353979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccatccaccactctgggCgacctactcttctcatgaag	7	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:57353979C>T	uc003xsz.2	-	2	737	c.656G>A	c.(655-657)CGC>CAC	p.R219H	PENK_uc003xta.3_Missense_Mutation_p.R219H	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	219					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCACTCTGGGCGACCTACTCT	0.532													T	57353979	C	T	57353979	3	4	189	1	0	0	0	0	1	0	0	0	11727	768	27	1	151	1	PENK	8	57353979	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	274225	57353979	89010043	2223	100080											
PENK	5179	broad.mit.edu	37	chr8	57354072	57354072	+	Frame_Shift_Del	DEL	C	C	-													tctttaagcctctcatgaagCccccatatctcttgctcact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:57354071_57354071GC>G	uc003xsz.2	-	1	645	c.564_564GC>C	c.(562-564)ggcfs	p.G188fs	PENK_uc003xta.3_Frame_Shift_Del_p.G188fs	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	188					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)			CTCTCATGAAGCCCCCATATC	0.517													-	57354072	C	-	57354072	7	5	189	1	0	1	0	1	0	0	0	0	11727	739	26	0	244	0	PENK	8	57354072	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	93	57354072	89009950	2224	100081											
SDCBP	6386	broad.mit.edu	37	chr8	59490615	59490615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttgttcagctagtccaGgctaattctccagcctcatt	6	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:59490615G>A	uc003xtn.2	+	6	576	c.426G>A	c.(424-426)CAG>CAA	p.Q142Q	SDCBP_uc003xto.2_Silent_p.Q141Q|SDCBP_uc003xtr.2_Silent_p.Q141Q|SDCBP_uc003xtp.2_Silent_p.Q136Q|SDCBP_uc003xtq.2_Silent_p.Q142Q|SDCBP_uc003xts.2_Silent_p.Q148Q|SDCBP_uc011led.1_Silent_p.Q83Q	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	142	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGCTAGTCCAGGCTAATTCTC	0.388													A	59490615	G	A	59490615	2	1	189	1	0	0	0	0	0	0	0	1	13955	991	35	4		4	SDCBP	8	59490615	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2136543	59490615	86873407	2225	100082											
NSMAF	8439	broad.mit.edu	37	chr8	59502099	59502099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatgtcccattaacgtgTcctggcgtcttccaaatgct	7	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:59502099T>C	uc003xtt.2	-	26	2337	c.2123A>G	c.(2122-2124)GAC>GGC	p.D708G	NSMAF_uc011lee.1_Missense_Mutation_p.D739G	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	708					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				CATTAACGTGTCCTGGCGTCT	0.368													C	59502099	T	C	59502099	3	2	189	1	0	0	0	0	1	0	0	0	10674	1667	58	3	654	3	NSMAF	8	59502099	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11484	59502099	86861923	2226	100083											
CHD7	55636	broad.mit.edu	37	chr8	61654075	61654075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcctcggagaatgtggTtacccggaaaatccagtaaa	12	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:61654075T>C	uc003xue.2	+	2	561	c.84T>C	c.(82-84)GGT>GGC	p.G28G		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	28					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GAGAATGTGGTTACCCGGAAA	0.453													C	61654075	T	C	61654075	2	2	189	1	0	0	0	0	0	0	0	1	3330	1712	60	3		3	CHD7	8	61654075	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2151976	61654075	84709947	2227	100084											
CHD7	55636	broad.mit.edu	37	chr8	61742985	61742985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaactattattgaagttgaGctaacaaacattcagaagaa	7	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:61742985G>T	uc003xue.2	+	15	4104	c.3627G>T	c.(3625-3627)GAG>GAT	p.E1209D		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1209					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			TTGAAGTTGAGCTAACAAACA	0.373													T	61742985	G	T	61742985	3	4	189	1	0	0	0	0	1	0	0	0	3330	962	34	5	3681	5	CHD7	8	61742985	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	88910	61742985	84621037	2228	100085											
CHD7	55636	broad.mit.edu	37	chr8	61743072	61743072	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggtcaagctaacgtAcctaacctattaaacactat	8	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:61743072A>G	uc003xue.2	+	15	4191	c.3714A>G	c.(3712-3714)GTA>GTG	p.V1238V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1238					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			AAGCTAACGTACCTAACCTAT	0.418													G	61743072	A	G	61743072	2	3	189	1	0	0	0	0	0	0	0	1	3330	378	14	3		3	CHD7	8	61743072	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	87	61743072	84620950	2229	100086											
CHD7	55636	broad.mit.edu	37	chr8	61765392	61765392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctgtgttacagaaccGcccgacctctcctccataat	5	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:61765392G>A	uc003xue.2	+	31	6585	c.6108G>A	c.(6106-6108)CCG>CCA	p.P2036P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2036					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			TTACAGAACCGCCCGACCTCT	0.473													A	61765392	G	A	61765392	2	1	189	1	0	0	0	0	0	0	0	1	3330	1074	38	1		1	CHD7	8	61765392	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	22320	61765392	84598630	2230	100087											
ADHFE1	137872	broad.mit.edu	37	chr8	67357523	67357523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtcggtggtggctctAccatggacacctgtaaggct	13	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:67357523A>G	uc003xwb.3	+	6	458	c.424A>G	c.(424-426)ACC>GCC	p.T142A	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.T94A|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.T72A|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	142					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		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)			TGGTGGCTCTACCATGGACAC	0.468													G	67357523	A	G	67357523	3	3	189	1	0	0	0	0	1	0	0	0	314	391	14	3	446	3	ADHFE1	8	67357523	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5592131	67357523	79006499	2231	100088											
VCPIP1	80124	broad.mit.edu	37	chr8	67578033	67578033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcaagttttatgtaCtttttaataaggtcctgagg	7	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:67578033C>T	uc003xwn.2	-	1	1420	c.1161G>A	c.(1159-1161)AAG>AAA	p.K387K	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	387					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		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)			GTTTTATGTACTTTTTAATAA	0.413													T	67578033	C	T	67578033	2	4	189	1	0	0	0	0	0	0	0	1	17138	564	20	4		4	VCPIP1	8	67578033	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	220510	67578033	78785989	2232	100089											
COPS5	10987	broad.mit.edu	37	chr8	67970406	67970406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagccatagccagggTggctatgataccacccgatt	11	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:67970406T>C	uc003xxe.2	-	3	750	c.419A>G	c.(418-420)CAC>CGC	p.H140R	COPS5_uc003xxd.2_Missense_Mutation_p.H76R|COPS5_uc003xxf.2_Missense_Mutation_p.H185R|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.H140R	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	140	JAMM motif.|MPN.	Zinc; catalytic (By similarity).			cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATAGCCAGGGTGGCTATGATA	0.418													C	67970406	T	C	67970406	3	2	189	1	0	0	0	0	1	0	0	0	3736	1696	59	3	609	3	COPS5	8	67970406	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	392373	67970406	78393616	2233	100090											
CSPP1	79848	broad.mit.edu	37	chr8	68007638	68007638	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctagaaaagatgtcttaacTccttcagaggcatatgaaga	8	8	2	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:68007638T>A	uc003xxi.2	+	8	757	c.726T>A	c.(724-726)ACT>ACA	p.T242T	CSPP1_uc003xxg.1_Silent_p.T234T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.T207T|CSPP1_uc003xxk.2_5'UTR	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	242						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	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)			ATGTCTTAACTCCTTCAGAGG	0.363													A	68007638	T	A	68007638	2	1	189	1	0	0	0	0	0	0	0	1	3962	1538	54	5		5	CSPP1	8	68007638	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	37232	68007638	78356384	2234	100091											
ARFGEF1	10565	broad.mit.edu	37	chr8	68213490	68213490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagatgtactaactatgCgaggacatttggactggcat	11	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:68213490C>T	uc003xxo.1	-	3	671	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	94					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			ACTAACTATGCGAGGACATTT	0.378													T	68213490	C	T	68213490	3	4	189	1	0	0	0	0	1	0	0	0	852	768	27	1	5416	1	ARFGEF1	8	68213490	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	205852	68213490	78150532	2235	100092											
SULF1	23213	broad.mit.edu	37	chr8	70488282	70488282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaatgcctttgtgactAcacccatgtgctgcccgtca	7	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:70488282A>G	uc010lza.1	+	6	967	c.250A>G	c.(250-252)ACA>GCA	p.T84A	SULF1_uc003xyd.2_Missense_Mutation_p.T84A|SULF1_uc003xye.2_Missense_Mutation_p.T84A|SULF1_uc003xyf.2_Missense_Mutation_p.T84A|SULF1_uc003xyg.2_Missense_Mutation_p.T84A	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	84					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTTTGTGACTACACCCATGTG	0.522													G	70488282	A	G	70488282	3	3	189	1	0	0	0	0	1	0	0	0	15369	391	14	3	256	3	SULF1	8	70488282	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2274792	70488282	75875740	2236	100093											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744455	70744455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttcaatggtggtaattaCgctgctcaggtacccagaga	10	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:70744455C>T	uc003xyl.2	-	2	1161	c.454G>A	c.(454-456)GTA>ATA	p.V152I	SLCO5A1_uc010lzb.2_Missense_Mutation_p.V152I|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.V152I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.V152I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	152	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGGTAATTACGCTGCTCAGG	0.552											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70744455	C	T	70744455	3	4	189	1	0	0	0	0	1	0	0	0	14731	536	19	1	2128	1	SLCO5A1	8	70744455	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	256173	70744455	75619567	2237	100094											
NCOA2	10499	broad.mit.edu	37	chr8	71071751	71071751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggattacctgtgaagcatAtgtaaagatattacaagttg	9	4	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:71071751A>G	uc003xyn.1	-	10	1275	c.1113T>C	c.(1111-1113)CAT>CAC	p.H371H		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	371					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGTGAAGCATATGTAAAGATA	0.363			T	RUNXBP2	AML								G	71071751	A	G	71071751	2	3	189	1	0	0	0	0	0	0	0	1	10229	446	16	3		3	NCOA2	8	71071751	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	327296	71071751	75292271	2238	100095											
MSC	9242	broad.mit.edu	37	chr8	72756075	72756075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgggcacgctcacgggcGttggccgcgttccgctgcga	15	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:72756075G>A	uc003xyx.1	-	1	657	c.339C>T	c.(337-339)AAC>AAT	p.N113N	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	113	Basic motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GCTCACGGGCGTTGGCCGCGT	0.701											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72756075	G	A	72756075	2	1	189	1	0	0	0	0	0	0	0	1	9868	1136	40	1		1	MSC	8	72756075	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1684324	72756075	73607947	2239	100096											
C8orf84	157869	broad.mit.edu	37	chr8	73979655	73979655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccaagttccttgacacCgaggattaccaattgcttgc	7	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:73979655C>T	uc003xzf.2	-	5	921	c.716G>A	c.(715-717)CGG>CAG	p.R239Q		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	RPE-spondin precursor	239					immune response	extracellular region	polysaccharide binding|scavenger receptor activity				0						TCCTTGACACCGAGGATTACC	0.363													T	73979655	C	T	73979655	3	4	189	1	0	0	0	0	1	0	0	0	2440	652	23	1	82	1	C8orf84	8	73979655	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1223580	73979655	72384367	2240	100097											
ZFHX4	79776	broad.mit.edu	37	chr8	77763477	77763477	+	Frame_Shift_Del	DEL	A	A	-													ttccgtacattccaggctttAaaaaaacacttggaagcagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:77763476_77763476TA>T	uc003yau.2	+	9	4706	c.4319_4319TA>T	c.(4318-4320)ttafs	p.L1440fs	ZFHX4_uc003yaw.1_Frame_Shift_Del_p.L1395fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1395						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)			TTCCAGGCTTTAAAAAAACAC	0.483										HNSCC(33;0.089)			-	77763477	A	-	77763477	7	5	189	1	0	1	0	1	0	0	0	0	17632	359	13	0	4354	0	ZFHX4	8	77763477	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	3783822	77763477	68600545	2241	100098											
ZFHX4	79776	broad.mit.edu	37	chr8	77764330	77764330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcctcattttcctatgAccccagaagcactgctgcag	7	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:77764330A>G	uc003yav.2	+	10	5425	c.5038A>G	c.(5038-5040)ACC>GCC	p.T1680A	ZFHX4_uc003yau.1_Missense_Mutation_p.T1725A|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1680A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1680	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCCTATGACCCCAGAAGC	0.478										HNSCC(33;0.089)			G	77764330	A	G	77764330	3	3	189	1	0	0	0	0	1	0	0	0	17632	275	10	3	5207	3	ZFHX4	8	77764330	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	853	77764330	68599692	2242	100099											
ZFHX4	79776	broad.mit.edu	37	chr8	77767833	77767833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacatcacagatgacccGgatgacaacgccgaccgcag	9	13	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:77767833G>A	uc003yav.2	+	10	8928	c.8541G>A	c.(8539-8541)CCG>CCA	p.P2847P	ZFHX4_uc003yau.1_Silent_p.P2892P|ZFHX4_uc003yaw.1_Silent_p.P2847P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2847						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGATGACCCGGATGACAACG	0.483										HNSCC(33;0.089)			A	77767833	G	A	77767833	2	1	189	1	0	0	0	0	0	0	0	1	17632	1103	39	1		1	ZFHX4	8	77767833	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3503	77767833	68596189	2243	100100											
PEX2	5828	broad.mit.edu	37	chr8	77895910	77895910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaatacctaggagacGttctgtcaaagttgcaaact	9	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:77895910G>A	uc003yax.2	-	4	963	c.505C>T	c.(505-507)CGT>TGT	p.R169C	PEX2_uc003yay.2_Missense_Mutation_p.R169C|PEX2_uc003yaz.2_Missense_Mutation_p.R169C	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	169					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						CCTAGGAGACGTTCTGTCAAA	0.378													A	77895910	G	A	77895910	3	1	189	1	0	0	0	0	1	0	0	0	11745	1145	40	1	416	1	PEX2	8	77895910	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	128077	77895910	68468112	2244	100101											
TPD52	7163	broad.mit.edu	37	chr8	80963804	80963804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgactgagccaacagacGaaaaagcagctgaggccttc	11	10	0	5	rs141089311		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:80963804G>A	uc003ybr.1	-	4	786	c.464C>T	c.(463-465)TCG>TTG	p.S155L	TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Missense_Mutation_p.S115L|TPD52_uc003ybt.1_Missense_Mutation_p.S115L|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	tumor protein D52 isoform 1	155					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GCCAACAGACGAAAAAGCAGC	0.388													A	80963804	G	A	80963804	3	1	189	1	0	0	0	0	1	0	0	0	16394	1059	37	1	299	1	TPD52	8	80963804	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3067894	80963804	65400218	2245	100102											
IMPA1	3612	broad.mit.edu	37	chr8	82586104	82586104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaacttgtagtttttgAccattacaaaaggcaccttt	7	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:82586104A>G	uc003ych.2	-	6	556	c.429T>C	c.(427-429)GGT>GGC	p.G143G	IMPA1_uc011lfq.1_Silent_p.G202G|IMPA1_uc011lfr.1_Silent_p.G143G	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	143					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	GTAGTTTTTGACCATTACAAA	0.338													G	82586104	A	G	82586104	2	3	189	1	0	0	0	0	0	0	0	1	7722	262	10	3		3	IMPA1	8	82586104	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1622300	82586104	63777918	2246	100103											
RALYL	138046	broad.mit.edu	37	chr8	85774581	85774581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccccgtgcagtaattcCgctgaagcgtcccagagtgg	11	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:85774581C>T	uc003ycq.3	+	7	880	c.464C>T	c.(463-465)CCG>CTG	p.P155L	RALYL_uc003ycr.3_Missense_Mutation_p.P155L|RALYL_uc003ycs.3_Missense_Mutation_p.P155L|RALYL_uc010lzy.2_Missense_Mutation_p.P144L|RALYL_uc003yct.3_Missense_Mutation_p.P168L|RALYL_uc003ycu.3_Missense_Mutation_p.P82L|RALYL_uc003ycv.3_Missense_Mutation_p.P67L	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	155							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						GCAGTAATTCCGCTGAAGCGT	0.522													T	85774581	C	T	85774581	3	4	189	1	0	0	0	0	1	0	0	0	13020	652	23	1	525	1	RALYL	8	85774581	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3188477	85774581	60589441	2247	100104											
LRRCC1	85444	broad.mit.edu	37	chr8	86035830	86035830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacaataaaaactacaaCtcttttgtaaggtacttgtt	4	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:86035830C>T	uc003ycw.2	+	7	1267	c.1113C>T	c.(1111-1113)AAC>AAT	p.N371N	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Silent_p.N72N|LRRCC1_uc003ycx.2_Silent_p.N278N|LRRCC1_uc003ycy.2_Silent_p.N351N	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	371					cell division|mitosis	centriole|nucleus					0						AAAACTACAACTCTTTTGTAA	0.323													T	86035830	C	T	86035830	2	4	189	1	0	0	0	0	0	0	0	1	9026	564	20	4		4	LRRCC1	8	86035830	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	261249	86035830	60328192	2248	100105											
LRRCC1	85444	broad.mit.edu	37	chr8	86050657	86050657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgaaagaaaaatttgaAaacaaggaaaagaaacttaa	8	2	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:86050657A>G	uc003ycw.2	+	17	2941	c.2787A>G	c.(2785-2787)GAA>GAG	p.E929E	LRRCC1_uc003ycx.2_Silent_p.E836E|LRRCC1_uc003ycy.2_Silent_p.E909E	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	929					cell division|mitosis	centriole|nucleus					0						AAAAATTTGAAAACAAGGAAA	0.318													G	86050657	A	G	86050657	2	3	189	1	0	0	0	0	0	0	0	1	9026	11	1	3		3	LRRCC1	8	86050657	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14827	86050657	60313365	2249	100106											
NBN	4683	broad.mit.edu	37	chr8	90982768	90982768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctccaaagacaactgcGgaactcaatttcttatgcta	5	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:90982768G>A	uc003yej.1	-	7	830	c.720C>T	c.(718-720)TCC>TCT	p.S240S	NBN_uc003yei.1_Silent_p.S158S|NBN_uc011lgb.1_Silent_p.S240S	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	240					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			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGACAACTGCGGAACTCAATT	0.343								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				A	90982768	G	A	90982768	2	1	189	1	0	0	0	0	0	0	0	1	10191	1103	39	1		1	NBN	8	90982768	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4932111	90982768	55381254	2250	100107											
NBN	4683	broad.mit.edu	37	chr8	90990516	90990516	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaaaatattctggcttTacaattggacgtccacaaat	6	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:90990516T>C	uc003yej.1	-	5	626	c.516A>G	c.(514-516)GTA>GTG	p.V172V	NBN_uc003yei.1_Silent_p.V90V|NBN_uc011lgb.1_Silent_p.V172V	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	172	BRCT.				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			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATTCTGGCTTTACAATTGGAC	0.303								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				C	90990516	T	C	90990516	2	2	189	1	0	0	0	0	0	0	0	1	10191	1741	61	3		3	NBN	8	90990516	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7748	90990516	55373506	2251	100108											
SLC26A7	115111	broad.mit.edu	37	chr8	92406197	92406197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgacgtattatggaaAcctagactcagagaaaccaa	8	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:92406197A>G	uc003yex.2	+	19	2143	c.1865A>G	c.(1864-1866)AAC>AGC	p.N622S	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.N622S|SLC26A7_uc003yfa.2_Missense_Mutation_p.N622S	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	622	STAS.|Cytoplasmic (Potential).					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			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTATGGAAACCTAGACTCA	0.353													G	92406197	A	G	92406197	3	3	189	1	0	0	0	0	1	0	0	0	14522	43	2	3	1931	3	SLC26A7	8	92406197	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1415681	92406197	53957825	2252	100109											
RUNX1T1	862	broad.mit.edu	37	chr8	92972632	92972632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctgcagggtctgtccAcagatgtgatggtgcttctc	14	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:92972632A>G	uc003yfd.2	-	11	1737	c.1653T>C	c.(1651-1653)TGT>TGC	p.C551C	RUNX1T1_uc003yfc.1_Silent_p.C524C|RUNX1T1_uc003yfe.1_Silent_p.C514C|RUNX1T1_uc010mao.2_Silent_p.C524C|RUNX1T1_uc011lgi.1_Silent_p.C562C|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Silent_p.C176C|RUNX1T1_uc003yfb.1_Silent_p.C514C	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	551	MYND-type.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGTCTGTCCACAGATGTGAT	0.597													G	92972632	A	G	92972632	2	3	189	1	0	0	0	0	0	0	0	1	13747	157	6	3		3	RUNX1T1	8	92972632	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	566435	92972632	53391390	2253	100110											
FAM92A1	137392	broad.mit.edu	37	chr8	94713550	94713550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctatgtgcggaaaactgCcaggctgagagacaaagcag	13	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:94713550C>T	uc010maq.2	+	2	228	c.125C>T	c.(124-126)GCC>GTC	p.A42V	FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	42											0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CGGAAAACTGCCAGGCTGAGA	0.478													T	94713550	C	T	94713550	3	4	189	1	0	0	0	0	1	0	0	0	5652	739	26	2	131	2	FAM92A1	8	94713550	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1740918	94713550	51650472	2254	100111											
TMEM67	91147	broad.mit.edu	37	chr8	94793924	94793924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgcttcctatgatatAagaggaaattttctcaagtg	9	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:94793924A>G	uc011lgk.1	+	10	1088	c.1017A>G	c.(1015-1017)ATA>ATG	p.I339M	TMEM67_uc010mat.1_Missense_Mutation_p.I254M|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.I258M	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	339					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			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CCTATGATATAAGAGGAAATT	0.313													G	94793924	A	G	94793924	3	3	189	1	0	0	0	0	1	0	0	0	16193	352	13	3	1193	3	TMEM67	8	94793924	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	80374	94793924	51570098	2255	100112											
CDH17	1015	broad.mit.edu	37	chr8	95143161	95143161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatcattgatgcggatcaAgacgacatactccctctcct	6	15	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95143161A>G	uc003ygh.2	-	16	2352	c.2227T>C	c.(2227-2229)TTG>CTG	p.L743L	CDH17_uc011lgo.1_Silent_p.L529L|CDH17_uc011lgp.1_Silent_p.L743L	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	743	Cadherin 7.|Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGCGGATCAAGACGACATAC	0.478													G	95143161	A	G	95143161	2	3	189	1	0	0	0	0	0	0	0	1	3102	69	3	3		3	CDH17	8	95143161	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	349237	95143161	51220861	2256	100113											
CDH17	1015	broad.mit.edu	37	chr8	95161011	95161011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtacccgatatggacttcCggcttctctgtccaatggag	10	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95161011C>T	uc003ygh.2	-	14	2013	c.1888G>A	c.(1888-1890)GGA>AGA	p.G630R	CDH17_uc011lgo.1_Missense_Mutation_p.G416R|CDH17_uc011lgp.1_Missense_Mutation_p.G630R	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	630	Cadherin 6.|Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATGGACTTCCGGCTTCTCTG	0.413													T	95161011	C	T	95161011	3	4	189	1	0	0	0	0	1	0	0	0	3102	661	23	1	630	1	CDH17	8	95161011	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	17850	95161011	51203011	2257	100114											
KIAA1429	25962	broad.mit.edu	37	chr8	95503952	95503952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattccatcttgaggaaccActtctttactttcagcagca	6	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95503952A>G	uc003ygo.1	-	22	5007	c.4994T>C	c.(4993-4995)GTG>GCG	p.V1665A	KIAA1429_uc010maz.1_Intron	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1665					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTGAGGAACCACTTCTTTACT	0.448													G	95503952	A	G	95503952	3	3	189	1	0	0	0	0	1	0	0	0	8231	159	6	3	456	3	KIAA1429	8	95503952	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	342941	95503952	50860070	2258	100115											
KIAA1429	25962	broad.mit.edu	37	chr8	95504890	95504890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaattttaccttgacgttaTaaaggtctcatgcttgtgct	7	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95504890T>C	uc003ygo.1	-	21	4811	c.4798A>G	c.(4798-4800)ATA>GTA	p.I1600V	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1600					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTGACGTTATAAAGGTCTCA	0.338													C	95504890	T	C	95504890	3	2	189	1	0	0	0	0	1	0	0	0	8231	1406	49	3	656	3	KIAA1429	8	95504890	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	938	95504890	50859132	2259	100116											
KIAA1429	25962	broad.mit.edu	37	chr8	95523695	95523695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatatgtaaagtaacaagCgctgaaggaacacgcatgtc	10	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95523695C>T	uc003ygo.1	-	13	3121	c.3108G>A	c.(3106-3108)GCG>GCA	p.A1036A	KIAA1429_uc003ygp.2_Silent_p.A1036A|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1036					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAGTAACAAGCGCTGAAGGAA	0.413													T	95523695	C	T	95523695	2	4	189	1	0	0	0	0	0	0	0	1	8231	755	27	1		1	KIAA1429	8	95523695	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	18805	95523695	50840327	2260	100117											
ESRP1	54845	broad.mit.edu	37	chr8	95690551	95690551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccctccacagcgtactAcccagcaggcactcagctct	8	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95690551A>G	uc003ygq.3	+	13	1955	c.1772A>G	c.(1771-1773)TAC>TGC	p.Y591C	ESRP1_uc003ygr.3_Missense_Mutation_p.Y587C|ESRP1_uc003ygs.3_Missense_Mutation_p.Y587C|ESRP1_uc003ygt.3_Missense_Mutation_p.Y591C|ESRP1_uc003ygu.3_Missense_Mutation_p.Y587C|ESRP1_uc003ygv.2_Missense_Mutation_p.Y431C|ESRP1_uc003ygw.2_Missense_Mutation_p.Y431C	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	591					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						ACAGCGTACTACCCAGCAGGC	0.507													G	95690551	A	G	95690551	3	3	189	1	0	0	0	0	1	0	0	0	5258	391	14	3	1822	3	ESRP1	8	95690551	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	166856	95690551	50673471	2261	100118											
DPY19L4	286148	broad.mit.edu	37	chr8	95746974	95746974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacggaaattctggttttccAacaggcaggtaagaagaaag	11	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95746974A>G	uc003ygx.2	+	3	368	c.244A>G	c.(244-246)AAC>GAC	p.N82D	DPY19L4_uc003ygy.2_Missense_Mutation_p.N19D	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	82						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					CTGGTTTTCCAACAGGCAGGT	0.373													G	95746974	A	G	95746974	3	3	189	1	0	0	0	0	1	0	0	0	4743	130	5	3	254	3	DPY19L4	8	95746974	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	56423	95746974	50617048	2262	100119											
TP53INP1	94241	broad.mit.edu	37	chr8	95942825	95942825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctatttctgttaagaggcTgtctttcactgtgttctttt	9	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:95942825T>C	uc003yhg.2	-	4	989	c.605A>G	c.(604-606)CAG>CGG	p.Q202R	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_3'UTR	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	202					apoptosis	PML body					0	Breast(36;8.75e-07)					GTTAAGAGGCTGTCTTTCACT	0.483													C	95942825	T	C	95942825	3	2	189	1	0	0	0	0	1	0	0	0	16385	1580	55	3	121	3	TP53INP1	8	95942825	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	195851	95942825	50421197	2263	100120											
PTDSS1	9791	broad.mit.edu	37	chr8	97307438	97307438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccttgctgatccgtaGttacggtctctgctggacaa	12	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:97307438G>A	uc003yht.1	+	5	656	c.554G>A	c.(553-555)AGT>AAT	p.S185N	PTDSS1_uc003yhu.1_Missense_Mutation_p.S39N	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	185					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTGATCCGTAGTTACGGTCTC	0.493													A	97307438	G	A	97307438	3	1	189	1	0	0	0	0	1	0	0	0	12736	1029	36	4	572	4	PTDSS1	8	97307438	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1364613	97307438	49056584	2264	100121											
PGCP	10404	broad.mit.edu	37	chr8	98041636	98041636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattattttcccagggctgCgtccaaagaggactctgcgg	11	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:98041636C>T	uc003yhw.2	+	6	1133	c.967C>T	c.(967-969)CGT>TGT	p.R323C		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	323					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					CCCAGGGCTGCGTCCAAAGAG	0.428													T	98041636	C	T	98041636	3	4	189	1	0	0	0	0	1	0	0	0	11786	768	27	1	985	1	PGCP	8	98041636	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	734198	98041636	48322386	2265	100122											
TSPYL5	85453	broad.mit.edu	37	chr8	98289418	98289418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggtaggccctgtccgCctgggcgttcatgttctcca	12	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:98289418C>T	uc003yhy.2	-	1	759	c.655G>A	c.(655-657)GCG>ACG	p.A219T		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	219					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			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GCCCTGTCCGCCTGGGCGTTC	0.607													T	98289418	C	T	98289418	3	4	189	1	0	0	0	0	1	0	0	0	16659	739	26	2	602	2	TSPYL5	8	98289418	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	247782	98289418	48074604	2266	100123											
TSPYL5	85453	broad.mit.edu	37	chr8	98289628	98289628	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctacaggtttctggggCcttcttcccggcagggccac	14	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:98289628C>G	uc003yhy.2	-	1	549	c.445G>C	c.(445-447)GCC>CCC	p.A149P		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	149					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			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GTTTCTGGGGCCTTCTTCCCG	0.657													G	98289628	C	G	98289628	3	3	189	1	0	0	0	0	1	0	0	0	16659	739	26	5	812	5	TSPYL5	8	98289628	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	210	98289628	48074394	2267	100124											
POP1	10940	broad.mit.edu	37	chr8	99168468	99168468	+	Frame_Shift_Del	DEL	A	A	-													tgccttgtgctcccatgcctAaaaaaactcatcagccatct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:99168467_99168467TA>T	uc003yij.4	+	14	2347	c.2247_2247TA>T	c.(2245-2247)cctfs	p.P749fs	POP1_uc011lgv.2_Frame_Shift_Del_p.P749fs|POP1_uc003yik.3_Frame_Shift_Del_p.P749fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	749					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)			CTCCCATGCCTAAAAAAACTC	0.507													-	99168468	A	-	99168468	7	5	189	1	0	1	0	1	0	0	0	0	12251	363	13	0	2302	0	POP1	8	99168468	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	878840	99168468	47195554	2268	100125											
VPS13B	157680	broad.mit.edu	37	chr8	100396469	100396469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagtatacaaggactagCagttaatattgacccaatct	7	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:100396469C>T	uc003yiv.2	+	20	2969	c.2858C>T	c.(2857-2859)GCA>GTA	p.A953V	VPS13B_uc003yiw.2_Missense_Mutation_p.A953V|VPS13B_uc003yiu.1_Missense_Mutation_p.A953V|VPS13B_uc003yix.1_Missense_Mutation_p.A424V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	953					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAGGACTAGCAGTTAATATT	0.289													T	100396469	C	T	100396469	3	4	189	1	0	0	0	0	1	0	0	0	17187	710	25	2	3055	2	VPS13B	8	100396469	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1228001	100396469	45967553	2269	100126											
VPS13B	157680	broad.mit.edu	37	chr8	100403908	100403908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaatatgccagcagcCctgtaaaaacaaaaacggta	7	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:100403908C>T	uc003yiv.2	+	21	3169	c.3058C>T	c.(3058-3060)CCT>TCT	p.P1020S	VPS13B_uc003yiw.2_Missense_Mutation_p.P1020S|VPS13B_uc003yiu.1_Missense_Mutation_p.P1020S|VPS13B_uc003yix.1_Missense_Mutation_p.P490S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1020					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCCAGCAGCCCTGTAAAAAC	0.294													T	100403908	C	T	100403908	3	4	189	1	0	0	0	0	1	0	0	0	17187	623	22	4	3259	4	VPS13B	8	100403908	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7439	100403908	45960114	2270	100127											
VPS13B	157680	broad.mit.edu	37	chr8	100711773	100711773	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggatgtcaatttggatataTcaaagcctttgaaagcaaac	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:100711773T>A	uc003yiv.2	+	36	6253	c.6142T>A	c.(6142-6144)TCA>ACA	p.S2048T	VPS13B_uc003yiw.2_Missense_Mutation_p.S2023T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2048					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTGGATATATCAAAGCCTTT	0.338													A	100711773	T	A	100711773	3	1	189	1	0	0	0	0	1	0	0	0	17187	1435	50	5	6474	5	VPS13B	8	100711773	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	307865	100711773	45652249	2271	100128											
VPS13B	157680	broad.mit.edu	37	chr8	100833587	100833587	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtcagtagcaattaaActggtccataacctgacatc	6	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:100833587A>G	uc003yiv.2	+	50	9246	c.9135A>G	c.(9133-9135)AAA>AAG	p.K3045K	VPS13B_uc003yiw.2_Silent_p.K3020K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3045					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGCAATTAAACTGGTCCATA	0.363													G	100833587	A	G	100833587	2	3	189	1	0	0	0	0	0	0	0	1	17187	40	2	3		3	VPS13B	8	100833587	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	121814	100833587	45530435	2272	100129											
VPS13B	157680	broad.mit.edu	37	chr8	100871606	100871606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcgggaacggggtcgccGacttcttcaggcttccgtat	13	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:100871606G>A	uc003yiv.2	+	57	11128	c.11017G>A	c.(11017-11019)GAC>AAC	p.D3673N	VPS13B_uc003yiw.2_Missense_Mutation_p.D3648N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3673					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CGGGGTCGCCGACTTCTTCAG	0.597													A	100871606	G	A	100871606	3	1	189	1	0	0	0	0	1	0	0	0	17187	1058	37	1	11433	1	VPS13B	8	100871606	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	38019	100871606	45492416	2273	100130											
VPS13B	157680	broad.mit.edu	37	chr8	100871692	100871692	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggaccacatcgtttgtAaagcacatctccaaaggtag	10	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:100871692A>G	uc003yiv.2	+	57	11214	c.11103A>G	c.(11101-11103)GTA>GTG	p.V3701V	VPS13B_uc003yiw.2_Silent_p.V3676V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3701					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATCGTTTGTAAAGCACATCT	0.498													G	100871692	A	G	100871692	2	3	189	1	0	0	0	0	0	0	0	1	17187	349	13	3		3	VPS13B	8	100871692	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	86	100871692	45492330	2274	100131											
RGS22	26166	broad.mit.edu	37	chr8	100974620	100974620	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacattcagactatgacgtAccttgaacctatcagcagca	6	12	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:100974620A>G	uc003yjb.1	-	27	4035	c.3840_splice	c.e27+1		RGS22_uc003yja.1_Splice_Site|RGS22_uc003yjc.1_Splice_Site	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTATGACGTACCTTGAACCT	0.403													G	100974620	A	G	100974620	5	3	189	1	0	0	0	0	0	0	1	0	13305	405	14	3		3	RGS22	8	100974620	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	102928	100974620	45389402	2275	100132											
FBXO43	286151	broad.mit.edu	37	chr8	101154105	101154105	+	Frame_Shift_Del	DEL	T	T	-													ttctaggcaagatacatttcTttttttgagtgggagattct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:101154104_101154104CT>C	uc003yjd.3	-	1	1114	c.378_378AG>G	c.(376-378)aagfs	p.K126fs	FBXO43_uc003yje.3_Frame_Shift_Del_p.K92fs|FBXO43_uc010mbp.2_Frame_Shift_Del_p.K126fs	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	126					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGATACATTTCTTTTTTTGAG	0.393													-	101154105	T	-	101154105	7	5	189	1	0	1	0	1	0	0	0	0	5752	1609	56	0	1765	0	FBXO43	8	101154105	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	179485	101154105	45209917	2276	100133											
UBR5	51366	broad.mit.edu	37	chr8	103297965	103297965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtactgatggtaccactccGgcgtaagtttgaaggatcaa	11	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:103297965G>A	uc003ykr.1	-	39	5293	c.5260C>T	c.(5260-5262)CGG>TGG	p.R1754W	UBR5_uc003yks.1_Missense_Mutation_p.R1754W	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1754					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			GTACCACTCCGGCGTAAGTTT	0.458													A	103297965	G	A	103297965	3	1	189	1	0	0	0	0	1	0	0	0	16902	1115	39	1	3223	1	UBR5	8	103297965	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2143860	103297965	43066057	2277	100134											
UBR5	51366	broad.mit.edu	37	chr8	103312362	103312362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaacgaacgtctcatcAtttcccgtaatctcaaacta	3	14	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:103312362A>G	uc003ykr.1	-	23	3005	c.2972T>C	c.(2971-2973)ATG>ACG	p.M991T	UBR5_uc003yks.1_Missense_Mutation_p.M991T	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	991					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			ACGTCTCATCATTTCCCGTAA	0.453													G	103312362	A	G	103312362	3	3	189	1	0	0	0	0	1	0	0	0	16902	217	8	3	5575	3	UBR5	8	103312362	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14397	103312362	43051660	2278	100135											
UBR5	51366	broad.mit.edu	37	chr8	103338886	103338886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgactaaaaggaactAcacccctgaaaacaaaaaac	4	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:103338886A>G	uc003ykr.1	-	13	1520	c.1487T>C	c.(1486-1488)GTA>GCA	p.V496A	UBR5_uc003yks.1_Missense_Mutation_p.V496A	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	496					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			AAAAGGAACTACACCCCTGAA	0.333													G	103338886	A	G	103338886	3	3	189	1	0	0	0	0	1	0	0	0	16902	391	14	3	7100	3	UBR5	8	103338886	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26524	103338886	43025136	2279	100136											
FZD6	8323	broad.mit.edu	37	chr8	104330885	104330885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctgcaaagcatttgTaccaacctgcatagaacaaa	5	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:104330885T>C	uc003ylh.2	+	3	529	c.245T>C	c.(244-246)GTA>GCA	p.V82A	FZD6_uc003yli.2_Missense_Mutation_p.V82A|FZD6_uc003ylj.2_Missense_Mutation_p.V82A|FZD6_uc011lhn.1_Missense_Mutation_p.V48A|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.V27A	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	82	FZ.|Extracellular (Potential).				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)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAAGCATTTGTACCAACCTGC	0.348													C	104330885	T	C	104330885	3	2	189	1	0	0	0	0	1	0	0	0	6134	1638	57	3	251	3	FZD6	8	104330885	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	991999	104330885	42033137	2280	100137											
RIMS2	9699	broad.mit.edu	37	chr8	104898242	104898242	+	Frame_Shift_Del	DEL	A	A	-													tgtaagaaaaacaaaacgggAaaaaatggaaacaatgttaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:104898241_104898241GA>G	uc003yls.3	+	1	989	c.748_748GA>G	c.(748-750)gaafs	p.E250fs	RIMS2_uc003ylp.3_Frame_Shift_Del_p.E472fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.E280fs|RIMS2_uc003ylq.3_Frame_Shift_Del_p.E280fs|RIMS2_uc003ylr.3_Frame_Shift_Del_p.E280fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	503					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.L249P(1)		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)			AACAAAACGGGAAAAAATGGA	0.448										HNSCC(12;0.0054)			-	104898242	A	-	104898242	7	5	189	1	0	1	0	1	0	0	0	0	13368	246	9	0	1555	0	RIMS2	8	104898242	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	567357	104898242	41465780	2281	100138											
RIMS2	9699	broad.mit.edu	37	chr8	105263882	105263882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaatcttttatgggagTggcccagatacttttagatg	9	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:105263882T>C	uc003yls.2	+	28	4179	c.3938T>C	c.(3937-3939)GTG>GCG	p.V1313A	RIMS2_uc003ylp.2_Missense_Mutation_p.V1295A|RIMS2_uc003ylq.2_Missense_Mutation_p.V1109A|RIMS2_uc003ylr.2_Missense_Mutation_p.V1134A	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1357	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTTATGGGAGTGGCCCAGATA	0.438										HNSCC(12;0.0054)			C	105263882	T	C	105263882	3	2	189	1	0	0	0	0	1	0	0	0	13368	1696	59	3	4174	3	RIMS2	8	105263882	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	365640	105263882	41100140	2282	100139											
LRP12	29967	broad.mit.edu	37	chr8	105510164	105510164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagcagcagcagttggagGatttgcttctttggcacaga	12	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:105510164G>A	uc003yma.2	-	5	711	c.616C>T	c.(616-618)CCT>TCT	p.P206S	LRP12_uc003ymb.2_Missense_Mutation_p.P187S|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	206	Extracellular (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGTTGGAGGATTTGCTTCT	0.418													A	105510164	G	A	105510164	3	1	189	1	0	0	0	0	1	0	0	0	8954	1174	41	4	1975	4	LRP12	8	105510164	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	246282	105510164	40853858	2283	100140											
OXR1	55074	broad.mit.edu	37	chr8	107758085	107758085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcactagctttcggtggTggagggtaagtctcttgaac	13	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:107758085T>C	uc011lht.1	+	15	2583	c.2484T>C	c.(2482-2484)GGT>GGC	p.G828G	OXR1_uc003ymf.2_Silent_p.G800G|OXR1_uc011lhu.1_Silent_p.G793G|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.G456G|OXR1_uc003ymk.2_Silent_p.G197G|OXR1_uc003yml.2_Silent_p.G170G	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	828	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTTTCGGTGGTGGAGGGTAAG	0.289													C	107758085	T	C	107758085	2	2	189	1	0	0	0	0	0	0	0	1	11334	1683	59	3		3	OXR1	8	107758085	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2247921	107758085	38605937	2284	100141											
EIF3E	3646	broad.mit.edu	37	chr8	109260960	109260960	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagggagtctgtgctcActaaaactttattggtagcg	11	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:109260960A>G	uc003ymu.2	-	1	1	c.-27_splice	c.e1-1		EIF3E_uc003ymv.2_Splice_Site|EIF3E_uc010mci.1_Splice_Site|EIF3E_uc010mcj.1_Splice_Site	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,						negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GTCTGTGCTCACTAAAACTTT	0.493													G	109260960	A	G	109260960	5	3	189	1	0	0	0	0	0	0	1	0	5015	174	6	3		3	EIF3E	8	109260960	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1502875	109260960	37103062	2285	100142											
NUDCD1	84955	broad.mit.edu	37	chr8	110257628	110257628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgccagagtagggcatcaAcatcatggcgcaaacagaag	12	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:110257628A>G	uc003ynb.3	-	9	1493	c.1382T>C	c.(1381-1383)GTT>GCT	p.V461A	NUDCD1_uc003yna.2_Missense_Mutation_p.V432A|NUDCD1_uc010mcl.2_Missense_Mutation_p.V374A	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	461										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TAGGGCATCAACATCATGGCG	0.413													G	110257628	A	G	110257628	3	3	189	1	0	0	0	0	1	0	0	0	10722	43	2	3	377	3	NUDCD1	8	110257628	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	996668	110257628	36106394	2286	100143											
PKHD1L1	93035	broad.mit.edu	37	chr8	110425663	110425663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtagttatgtttagcatAcaaaggattcctggcaaatt	8	5	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:110425663A>G	uc003yne.2	+	21	2353	c.2249A>G	c.(2248-2250)TAC>TGC	p.Y750C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	750	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTTTAGCATACAAAGGATTC	0.274										HNSCC(38;0.096)			G	110425663	A	G	110425663	3	3	189	1	0	0	0	0	1	0	0	0	11972	391	14	3	2331	3	PKHD1L1	8	110425663	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	168035	110425663	35938359	2287	100144											
PKHD1L1	93035	broad.mit.edu	37	chr8	110432893	110432893	+	Frame_Shift_Del	DEL	C	C	-													acaattgcagttacaatataCccatgatggctgtgagcttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:110432892_110432892AC>A	uc003yne.3	+	22	2774	c.2670_2670AC>A	c.(2668-2670)atafs	p.I890fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	890					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)			GTTACAATATACCCATGATGG	0.328										HNSCC(38;0.096)			-	110432893	C	-	110432893	7	5	189	1	0	1	0	1	0	0	0	0	11972	507	18	0	2761	0	PKHD1L1	8	110432893	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	7230	110432893	35931129	2288	100145											
PKHD1L1	93035	broad.mit.edu	37	chr8	110453524	110453524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatcccttgcaatgttAcatcatcatcagaaaatgtc	6	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:110453524A>G	uc003yne.2	+	34	4224	c.4120A>G	c.(4120-4122)ACA>GCA	p.T1374A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1374	Extracellular (Potential).|IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCAATGTTACATCATCATC	0.299										HNSCC(38;0.096)			G	110453524	A	G	110453524	3	3	189	1	0	0	0	0	1	0	0	0	11972	391	14	3	4254	3	PKHD1L1	8	110453524	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20631	110453524	35910498	2289	100146											
PKHD1L1	93035	broad.mit.edu	37	chr8	110474095	110474095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatgtttcatgctcctgtAcctggtgctaacatggtaac	9	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:110474095A>G	uc003yne.2	+	48	7445	c.7341A>G	c.(7339-7341)GTA>GTG	p.V2447V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2447	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGCTCCTGTACCTGGTGCTA	0.408										HNSCC(38;0.096)			G	110474095	A	G	110474095	2	3	189	1	0	0	0	0	0	0	0	1	11972	378	14	3		3	PKHD1L1	8	110474095	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20571	110474095	35889927	2290	100147											
KCNV1	27012	broad.mit.edu	37	chr8	110980664	110980664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtcatagaggtggtggCccaccaccatgcacaaggga	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:110980664C>T	uc003ynr.3	-	3	1498	c.1156G>A	c.(1156-1158)GCC>ACC	p.A386T	KCNV1_uc010mcw.2_Missense_Mutation_p.A386T	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	386						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GAGGTGGTGGCCCACCACCAT	0.458													T	110980664	C	T	110980664	3	4	189	1	0	0	0	0	1	0	0	0	8094	739	26	2	350	2	KCNV1	8	110980664	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	506569	110980664	35383358	2291	100148											
CSMD3	114788	broad.mit.edu	37	chr8	113256718	113256718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagccaggctgacaggtaTaaatcagtgtatacccatga	10	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:113256718T>C	uc003ynu.2	-	65	10466	c.10307A>G	c.(10306-10308)TAT>TGT	p.Y3436C	CSMD3_uc003yns.2_Missense_Mutation_p.Y2638C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3396C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3267C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3436	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTGACAGGTATAAATCAGTGT	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113256718	T	C	113256718	3	2	189	1	0	0	0	0	1	0	0	0	3946	1406	49	3	844	3	CSMD3	8	113256718	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2276054	113256718	33107304	2292	100149											
CSMD3	114788	broad.mit.edu	37	chr8	113702138	113702138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccattggttattctctTgacaaacaatggatttctct	6	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:113702138T>C	uc003ynu.2	-	14	2273	c.2114A>G	c.(2113-2115)CAA>CGA	p.Q705R	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.Q665R|CSMD3_uc011lhx.1_Missense_Mutation_p.Q601R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	705	Extracellular (Potential).|Sushi 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTTATTCTCTTGACAAACAAT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113702138	T	C	113702138	3	2	189	1	0	0	0	0	1	0	0	0	3946	1812	63	3	9241	3	CSMD3	8	113702138	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	445420	113702138	32661884	2293	100150											
TRPS1	7227	broad.mit.edu	37	chr8	116599390	116599390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccagatgggcggcctcCacattgggactatcccttag	12	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:116599390C>T	uc003ynz.2	-	4	2958	c.2499G>A	c.(2497-2499)GTG>GTA	p.V833V	TRPS1_uc011lhy.1_Silent_p.V837V|TRPS1_uc003yny.2_Silent_p.V846V|TRPS1_uc010mcy.2_Silent_p.V833V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	833					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			GGGCGGCCTCCACATTGGGAC	0.617									Langer-Giedion_syndrome				T	116599390	C	T	116599390	2	4	189	1	0	0	0	0	0	0	0	1	16590	581	21	4		4	TRPS1	8	116599390	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2897252	116599390	29764632	2294	100151											
TRPS1	7227	broad.mit.edu	37	chr8	116599584	116599585	+	Frame_Shift_Del	DEL	TC	TC	-													cccgtccttctcttccagctTctctctcttcaccacactct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:116599583_116599584TTC>T	uc003yny.3	-	4	2922_2923	c.2344_2345GAA>A	c.(2344-2346)aagfs	p.K782fs	TRPS1_uc011lhy.2_Frame_Shift_Del_p.K773fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.K769fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.K769fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	769	Mediates interaction with GLI3.				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|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)			CTCTTCCAGCTTCTCTCTCTTC	0.505									Langer-Giedion syndrome				-	116599585	TC	-	116599584	7	5	189	1	0	1	0	1	0	0	0	0	16590	1792	62	0	1552	0	TRPS1	8	116599584	Frame_Shift_Del	DEL	TC	TCGA-CG-5721-01A-11D-1600-08	194	116599584	29764438	2295	100152											
TRPS1	7227	broad.mit.edu	37	chr8	116616290	116616290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtacatctacgtcaggggTggtgaatgaacactgatggc	14	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:116616290T>C	uc003ynz.2	-	3	2326	c.1867A>G	c.(1867-1869)ACC>GCC	p.T623A	TRPS1_uc011lhy.1_Missense_Mutation_p.T627A|TRPS1_uc003yny.2_Missense_Mutation_p.T636A|TRPS1_uc010mcy.2_Missense_Mutation_p.T623A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	623	C2H2-type 3; atypical.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			ACGTCAGGGGTGGTGAATGAA	0.498									Langer-Giedion_syndrome				C	116616290	T	C	116616290	3	2	189	1	0	0	0	0	1	0	0	0	16590	1696	59	3	1994	3	TRPS1	8	116616290	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	16706	116616290	29747732	2296	100153											
TRPS1	7227	broad.mit.edu	37	chr8	116617019	116617019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcagggatggacttgtTagagtttttctctgaaggtt	13	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:116617019T>C	uc003ynz.2	-	3	1597	c.1138A>G	c.(1138-1140)AAC>GAC	p.N380D	TRPS1_uc011lhy.1_Missense_Mutation_p.N384D|TRPS1_uc003yny.2_Missense_Mutation_p.N393D|TRPS1_uc010mcy.2_Missense_Mutation_p.N380D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	380					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			ATGGACTTGTTAGAGTTTTTC	0.433									Langer-Giedion_syndrome				C	116617019	T	C	116617019	3	2	189	1	0	0	0	0	1	0	0	0	16590	1754	61	3	2723	3	TRPS1	8	116617019	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	729	116617019	29747003	2297	100154											
TRPS1	7227	broad.mit.edu	37	chr8	116631857	116631858	+	Frame_Shift_Ins	INS	-	-	G													tctccagtgagtcccctgagINSggggtgcaggccatatcttg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:116631856_116631857A>AG	uc003yny.3	-	2	1046_1047	c.468_469T>CT	c.(466-471)ccctcafs	p.P156fs	TRPS1_uc011lhy.2_Frame_Shift_Ins_p.P147fs|TRPS1_uc003ynz.3_Frame_Shift_Ins_p.P143fs|TRPS1_uc010mcy.3_Frame_Shift_Ins_p.P143fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	143					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|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)			GAGTCCCCTGAGGGGGTGCAGG	0.53									Langer-Giedion syndrome				G	116631858	-	G	116631857	7	5	189	1	0	1	1	0	0	0	0	0	16590	987	35	0	3436	0	TRPS1	8	116631857	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	14838	116631857	29732165	2298	100155											
EXT1	2131	broad.mit.edu	37	chr8	118825188	118825188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcgtagggcagaaaacGgctgctcataacctgggagg	15	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:118825188G>A	uc003yok.1	-	8	2418	c.1645C>T	c.(1645-1647)CGT>TGT	p.R549C		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	549	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGCAGAAAACGGCTGCTCATA	0.517			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				A	118825188	G	A	118825188	3	1	189	1	0	0	0	0	1	0	0	0	5323	1116	39	1	611	1	EXT1	8	118825188	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2193331	118825188	27538834	2299	100156											
EXT1	2131	broad.mit.edu	37	chr8	118831934	118831934	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcacagtactgggacTtggctgcagccacgagaagc	14	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:118831934T>A	uc003yok.1	-	6	2290	c.1517A>T	c.(1516-1518)AAG>ATG	p.K506M		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	506	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTACTGGGACTTGGCTGCAGC	0.597			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				A	118831934	T	A	118831934	3	1	189	1	0	0	0	0	1	0	0	0	5323	1609	56	5	747	5	EXT1	8	118831934	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6746	118831934	27532088	2300	100157											
TAF2	6873	broad.mit.edu	37	chr8	120809270	120809270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccaaaaaactgctgggCcaaggattgggctaaacacc	9	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:120809270C>T	uc003you.2	-	8	1321	c.1051G>A	c.(1051-1053)GCC>ACC	p.A351T		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	351					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			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTGCTGGGCCAAGGATTGG	0.363													T	120809270	C	T	120809270	3	4	189	1	0	0	0	0	1	0	0	0	15521	739	26	2	2624	2	TAF2	8	120809270	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1977336	120809270	25554752	2301	100158											
DEPDC6	64798	broad.mit.edu	37	chr8	120977536	120977536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtcaagtatgagcgcAccttcatggcatctgaattc	11	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:120977536A>G	uc003yow.3	+	4	677	c.490A>G	c.(490-492)ACC>GCC	p.T164A	DEPDC6_uc011lid.1_Missense_Mutation_p.T63A	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	164	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTATGAGCGCACCTTCATGGC	0.532													G	120977536	A	G	120977536	3	3	189	1	0	0	0	0	1	0	0	0	4443	159	6	3	504	3	DEPDC6	8	120977536	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	168266	120977536	25386486	2302	100159											
DEPDC6	64798	broad.mit.edu	37	chr8	121061867	121061867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcctgcatgtagactAccggaccgtgagcaatctga	10	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:121061867A>G	uc003yow.3	+	9	1341	c.1154A>G	c.(1153-1155)TAC>TGC	p.Y385C	DEPDC6_uc011lid.1_Missense_Mutation_p.Y284C	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	385	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATGTAGACTACCGGACCGTG	0.517													G	121061867	A	G	121061867	3	3	189	1	0	0	0	0	1	0	0	0	4443	391	14	3	1188	3	DEPDC6	8	121061867	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	84331	121061867	25302155	2303	100160											
COL14A1	7373	broad.mit.edu	37	chr8	121327827	121327827	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccttccaggtccacaggTattatttttgttttttaagt	8	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:121327827T>C	uc003yox.2	+	39	4870	c.4605_splice	c.e39+2	p.Q1535_splice	COL14A1_uc003yoz.2_Splice_Site_p.Q500_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			GGTCCACAGGTATTATTTTTG	0.388													C	121327827	T	C	121327827	5	2	189	1	0	0	0	0	0	0	1	0	3671	1652	57	3	4757	3	COL14A1	8	121327827	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	265960	121327827	25036195	2304	100161											
HAS2	3037	broad.mit.edu	37	chr8	122641473	122641473	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtaattatccgtttggatAaactggtagccaacaatata	7	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:122641473A>G	uc003yph.2	-	2	646	c.108T>C	c.(106-108)TTT>TTC	p.F36F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	36	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	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)			CCGTTTGGATAAACTGGTAGC	0.423													G	122641473	A	G	122641473	2	3	189	1	0	0	0	0	0	0	0	1	6962	359	13	3		3	HAS2	8	122641473	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1313646	122641473	23722549	2305	100162											
ZHX2	22882	broad.mit.edu	37	chr8	123964290	123964290	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagtgattctgggatctcGgtgagtaaaacccccatcat	10	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:123964290G>T	uc003ypk.1	+	3	1107	c.540G>T	c.(538-540)TCG>TCT	p.S180S		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	180						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGGGATCTCGGTGAGTAAAA	0.527													T	123964290	G	T	123964290	2	4	189	1	0	0	0	0	0	0	0	1	17673	1103	39	5		5	ZHX2	8	123964290	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1322817	123964290	22399732	2306	100163											
ZHX2	22882	broad.mit.edu	37	chr8	123965055	123965055	+	Frame_Shift_Del	DEL	C	C	-													cccccacccaaggtggccaaCcccccgctcacaccagccag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:123965054_123965054AC>A	uc022bag.1	+	0	1304	c.1304_1304AC>A	c.(1303-1305)aacfs	p.N435fs	ZHX2_uc003ypk.1_Frame_Shift_Del_p.N435fs	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	435	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)			AAGGTGGCCAACCCCCCGCTC	0.612													-	123965055	C	-	123965055	7	5	189	1	0	1	0	1	0	0	0	0	17673	506	18	0	1307	0	ZHX2	8	123965055	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	765	123965055	22398967	2307	100164											
WDR67	93594	broad.mit.edu	37	chr8	124140543	124140543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcaccatcggaataAcctggatataaatgttgtga	7	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:124140543A>G	uc003ypp.1	+	14	1997	c.1907A>G	c.(1906-1908)AAC>AGC	p.N636S	WDR67_uc011lig.1_Missense_Mutation_p.N636S|WDR67_uc011lih.1_Missense_Mutation_p.N526S|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Missense_Mutation_p.N93S|WDR67_uc003ypu.1_Missense_Mutation_p.N93S	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	636						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CATCGGAATAACCTGGATATA	0.338													G	124140543	A	G	124140543	3	3	189	1	0	0	0	0	1	0	0	0	17315	43	2	3	1961	3	WDR67	8	124140543	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	175488	124140543	22223479	2308	100165											
WDR67	93594	broad.mit.edu	37	chr8	124164129	124164129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcttcgccagagactcActgcccgggctcgtcacaga	10	14	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:124164129A>G	uc003ypp.1	+	22	3241	c.3151A>G	c.(3151-3153)ACT>GCT	p.T1051A	WDR67_uc011lig.1_Missense_Mutation_p.T955A|WDR67_uc011lih.1_Missense_Mutation_p.T941A|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.T685A|WDR67_uc003ypt.1_Missense_Mutation_p.T443A|WDR67_uc003ypu.1_Missense_Mutation_p.T443A	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	1051						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGAGACTCACTGCCCGGGC	0.438													G	124164129	A	G	124164129	3	3	189	1	0	0	0	0	1	0	0	0	17315	159	6	3	3237	3	WDR67	8	124164129	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23586	124164129	22199893	2309	100166											
ZHX1	11244	broad.mit.edu	37	chr8	124267009	124267009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaggaccagaccaggcTgaccaactatttggcatgtc	11	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:124267009T>C	uc003yqe.2	-	3	1608	c.1178A>G	c.(1177-1179)CAG>CGG	p.Q393R	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.Q393R|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.Q393R	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	393	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			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGACCAGGCTGACCAACTAT	0.438													C	124267009	T	C	124267009	3	2	189	1	0	0	0	0	1	0	0	0	17672	1580	55	3	1447	3	ZHX1	8	124267009	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	102880	124267009	22097013	2310	100167											
ATAD2	29028	broad.mit.edu	37	chr8	124348743	124348743	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatgaaaggtccattggTtgctttattacagtgacata	9	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:124348743T>C	uc003yqh.3	-	22	3189	c.3081A>G	c.(3079-3081)CAA>CAG	p.Q1027Q	ATAD2_uc011lii.1_Silent_p.Q818Q|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1027	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTCCATTGGTTGCTTTATTA	0.328													C	124348743	T	C	124348743	2	2	189	1	0	0	0	0	0	0	0	1	1071	1722	60	3		3	ATAD2	8	124348743	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	81734	124348743	22015279	2311	100168											
ATAD2	29028	broad.mit.edu	37	chr8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcatcttcatcatcAtcatcatcatcatcatcgtc	1	14	12	0	rs149531312	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:124382167A>T	uc003yqh.3	-	7	933	c.825T>A	c.(823-825)GAT>GAA	p.D275E	ATAD2_uc011lii.1_Missense_Mutation_p.D66E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D275E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.179													T	124382167	A	T	124382167	3	4	189	1	0	0	0	0	1	0	0	0	1071	214	8	5	3435	5	ATAD2	8	124382167	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	33424	124382167	21981855	2312	100169											
ANXA13	312	broad.mit.edu	37	chr8	124705988	124705988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaccagctagatctTtgtccacgtcatctccttca	5	15	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:124705988T>C	uc003yqu.2	-	7	576	c.503A>G	c.(502-504)AAA>AGA	p.K168R	ANXA13_uc003yqt.2_Missense_Mutation_p.K209R	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	168					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCTAGATCTTTGTCCACGTC	0.353													C	124705988	T	C	124705988	3	2	189	1	0	0	0	0	1	0	0	0	717	1841	64	3	467	3	ANXA13	8	124705988	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	323821	124705988	21658034	2313	100170											
FER1L6	654463	broad.mit.edu	37	chr8	125015417	125015417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcaggtaattttggAaacctgattgatggaggatc	12	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:125015417A>G	uc003yqw.2	+	13	1736	c.1530A>G	c.(1528-1530)GGA>GGG	p.G510G	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	510	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTAATTTTGGAAACCTGATTG	0.498													G	125015417	A	G	125015417	2	3	189	1	0	0	0	0	0	0	0	1	5815	233	9	3		3	FER1L6	8	125015417	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	309429	125015417	21348605	2314	100171											
RNF139	11236	broad.mit.edu	37	chr8	125498142	125498142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttttacacgtacagctcAgcctttctgttagctgcaac	7	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:125498142A>G	uc003yrc.2	+	2	595	c.252A>G	c.(250-252)TCA>TCG	p.S84S		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	84					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CGTACAGCTCAGCCTTTCTGT	0.378									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				G	125498142	A	G	125498142	2	3	189	1	0	0	0	0	0	0	0	1	13442	175	7	3		3	RNF139	8	125498142	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	482725	125498142	20865880	2315	100172											
TATDN1	83940	broad.mit.edu	37	chr8	125528239	125528239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaattcaccacatcttgTaggatgacatccaactgtac	5	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:125528239T>C	uc003yrd.2	-	5	277	c.235A>G	c.(235-237)ACA>GCA	p.T79A	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Missense_Mutation_p.T32A|TATDN1_uc003yrf.2_Missense_Mutation_p.T79A	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	79						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCACATCTTGTAGGATGACAT	0.294													C	125528239	T	C	125528239	3	2	189	1	0	0	0	0	1	0	0	0	15588	1638	57	3	690	3	TATDN1	8	125528239	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	30097	125528239	20835783	2316	100173											
KIAA0196	9897	broad.mit.edu	37	chr8	126087304	126087304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcagctttgtaaggtTcccaagcatctactagatta	7	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:126087304T>C	uc003yrt.2	-	8	1243	c.914A>G	c.(913-915)GAA>GGA	p.E305G	KIAA0196_uc011lir.1_Missense_Mutation_p.E157G	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	305					cell death	WASH complex				ovary(2)	2	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)			TTTGTAAGGTTCCCAAGCATC	0.383													C	126087304	T	C	126087304	3	2	189	1	0	0	0	0	1	0	0	0	8161	1783	62	3	2653	3	KIAA0196	8	126087304	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	559065	126087304	20276718	2317	100174											
ASAP1	50807	broad.mit.edu	37	chr8	131073125	131073126	+	Frame_Shift_Ins	INS	-	-	G													ggtcccccagctgtggtttgINSgggggcagttctcctggctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:131073124_131073125T>TG	uc003yta.2	-	27	3120_3121	c.2892_2893A>CA	c.(2890-2895)cccaaafs	p.P964fs	ASAP1_uc003ysz.2_Frame_Shift_Ins_p.P775fs|ASAP1_uc011liw.2_Frame_Shift_Ins_p.P957fs	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	964	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|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						AGCTGTGGTTTGGGGGGCAGTT	0.599													G	131073126	-	G	131073125	7	5	189	1	0	1	1	0	0	0	0	0	1010	1335	47	0	509	0	ASAP1	8	131073125	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	4985821	131073125	15290897	2318	100175											
ADCY8	114	broad.mit.edu	37	chr8	131812714	131812714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgagcaagcgcaggcaTtccactccctggttattcat	8	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:131812714T>C	uc003ytd.3	-	15	3274	c.3018A>G	c.(3016-3018)GAA>GAG	p.E1006E	ADCY8_uc010mds.2_Silent_p.E875E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1006	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCGCAGGCATTCCACTCCCT	0.443										HNSCC(32;0.087)			C	131812714	T	C	131812714	2	2	189	1	0	0	0	0	0	0	0	1	300	1490	52	3		3	ADCY8	8	131812714	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	739589	131812714	14551308	2319	100176											
EFR3A	23167	broad.mit.edu	37	chr8	132997309	132997309	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagcatgttagcaaggTaatgtatttagaaaagtcct	9	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:132997309T>C	uc003yte.2	+	16	2070	c.1869_splice	c.e16+2	p.K623_splice		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A							plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	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)			GTTAGCAAGGTAATGTATTTA	0.343													C	132997309	T	C	132997309	5	2	189	1	0	0	0	0	0	0	1	0	4958	1652	57	3	1933	3	EFR3A	8	132997309	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1184595	132997309	13366713	2320	100177											
TG	7038	broad.mit.edu	37	chr8	133879302	133879302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctgctgggtgtcggcCaatatcttcggtaagttctg	11	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:133879302C>T	uc003ytw.2	+	1	98	c.57C>T	c.(55-57)GCC>GCT	p.A19A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	19					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		GGGTGTCGGCCAATATCTTCG	0.468													T	133879302	C	T	133879302	2	4	189	1	0	0	0	0	0	0	0	1	15810	581	21	4		4	TG	8	133879302	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	881993	133879302	12484720	2321	100178											
TG	7038	broad.mit.edu	37	chr8	133883660	133883660	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacattaacagcacagacacCtcctacctccctcagtgtca	4	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:133883660C>A	uc003ytw.2	+	4	383	c.342C>A	c.(340-342)ACC>ACA	p.T114T		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	114	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		GCACAGACACCTCCTACCTCC	0.517													A	133883660	C	A	133883660	2	1	189	1	0	0	0	0	0	0	0	1	15810	668	24	5		5	TG	8	133883660	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4358	133883660	12480362	2322	100179											
TG	7038	broad.mit.edu	37	chr8	133899319	133899319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaaatgccctcaaattcCttgcttctctcctggagctt	5	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:133899319C>A	uc003ytw.2	+	9	1743	c.1702C>A	c.(1702-1704)CTT>ATT	p.L568I		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	568					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		CCTCAAATTCCTTGCTTCTCT	0.443													A	133899319	C	A	133899319	3	1	189	1	0	0	0	0	1	0	0	0	15810	681	24	5	1736	5	TG	8	133899319	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	15659	133899319	12464703	2323	100180											
TG	7038	broad.mit.edu	37	chr8	133900283	133900283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcaggacggtgcaggCcctgctctctaactccagca	9	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:133900283C>T	uc003ytw.2	+	10	2272	c.2231C>T	c.(2230-2232)GCC>GTC	p.A744V		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	744	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		ACGGTGCAGGCCCTGCTCTCT	0.537													T	133900283	C	T	133900283	3	4	189	1	0	0	0	0	1	0	0	0	15810	739	26	2	2269	2	TG	8	133900283	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	964	133900283	12463739	2324	100181											
WISP1	8840	broad.mit.edu	37	chr8	134225274	134225274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagtgctgtaagatgtgCgctcagcagcttggggacaa	15	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:134225274C>T	uc003yub.2	+	2	313	c.237C>T	c.(235-237)TGC>TGT	p.C79C	WISP1_uc003yuc.2_Silent_p.C79C|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.C79C|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	79	IGFBP N-terminal.				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)|kidney(1)	2	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)			GTAAGATGTGCGCTCAGCAGC	0.637													T	134225274	C	T	134225274	2	4	189	1	0	0	0	0	0	0	0	1	17369	776	27	1		1	WISP1	8	134225274	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	324991	134225274	12138748	2325	100182											
FAM135B	51059	broad.mit.edu	37	chr8	139164318	139164318	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctcttgctgtgcatAtctgaaggttcagcaaaacc	9	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:139164318A>G	uc003yuy.2	-	13	2571	c.2400T>C	c.(2398-2400)GAT>GAC	p.D800D	FAM135B_uc003yux.2_Silent_p.D701D|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.D362D|FAM135B_uc003yvb.2_Silent_p.D362D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	800										ovary(7)|skin(2)	9	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)			TGCTGTGCATATCTGAAGGTT	0.517										HNSCC(54;0.14)			G	139164318	A	G	139164318	2	3	189	1	0	0	0	0	0	0	0	1	5449	446	16	3		3	FAM135B	8	139164318	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4939044	139164318	7199704	2326	100183											
COL22A1	169044	broad.mit.edu	37	chr8	139890062	139890062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcggacacgtggaagaCgtgggcggacttgggctctg	18	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:139890062C>T	uc003yvd.2	-	3	1036	c.589G>A	c.(589-591)GTC>ATC	p.V197I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	197	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			ACGTGGAAGACGTGGGCGGAC	0.667										HNSCC(7;0.00092)			T	139890062	C	T	139890062	3	4	189	1	0	0	0	0	1	0	0	0	3681	536	19	1	4543	1	COL22A1	8	139890062	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	725744	139890062	6473960	2327	100184											
EIF2C2	27161	broad.mit.edu	37	chr8	141542189	141542189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttggtgaacctggaccGccttggccagtgcttggtgg	15	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:141542189G>A	uc003yvn.2	-	19	2574	c.2534C>T	c.(2533-2535)GCG>GTG	p.A845V	EIF2C2_uc010men.2_Missense_Mutation_p.A768V|EIF2C2_uc010meo.2_Missense_Mutation_p.A811V	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	845					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AACCTGGACCGCCTTGGCCAG	0.527													A	141542189	G	A	141542189	3	1	189	1	0	0	0	0	1	0	0	0	5006	1087	38	1	49	1	EIF2C2	8	141542189	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1652127	141542189	4821833	2328	100185											
EIF2C2	27161	broad.mit.edu	37	chr8	141559309	141559309	+	Frame_Shift_Del	DEL	C	C	-													catgggctccacgctgtccgCcccctgcgcgtatttgcaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:141559308_141559308GC>G	uc003yvn.3	-	11	1534	c.1493_1493GC>C	c.(1492-1494)gcgfs	p.A498fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.A498fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.A421fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	498					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CACGCTGTCCGCCCCCTGCGC	0.632													-	141559309	C	-	141559309	7	5	189	1	0	1	0	1	0	0	0	0	5006	739	26	0	1119	0	EIF2C2	8	141559309	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	17120	141559309	4804713	2329	100186											
EIF2C2	27161	broad.mit.edu	37	chr8	141566004	141566004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacacgtaccctgcccccGtagaggatggagggcggctg	14	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:141566004G>A	uc003yvn.2	-	10	1300	c.1260C>T	c.(1258-1260)TAC>TAT	p.Y420Y	EIF2C2_uc010men.2_Silent_p.Y343Y|EIF2C2_uc010meo.2_Silent_p.Y420Y	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	420					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CCCTGCCCCCGTAGAGGATGG	0.612													A	141566004	G	A	141566004	2	1	189	1	0	0	0	0	0	0	0	1	5006	1140	40	1		1	EIF2C2	8	141566004	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6695	141566004	4798018	2330	100187											
DENND3	22898	broad.mit.edu	37	chr8	142151331	142151331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctacaatggcaaaacGcaccgggagtgtcctggctg	12	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:142151331G>A	uc003yvy.2	+	4	569	c.291G>A	c.(289-291)ACG>ACA	p.T97T	DENND3_uc003yvw.1_Silent_p.T110T|DENND3_uc003yvx.2_Missense_Mutation_p.R176H|DENND3_uc010mep.2_Silent_p.T110T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	97										ovary(1)	1	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)			ATGGCAAAACGCACCGGGAGT	0.532													A	142151331	G	A	142151331	2	1	189	1	0	0	0	0	0	0	0	1	4432	1074	38	1		1	DENND3	8	142151331	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	585327	142151331	4212691	2331	100188											
DENND3	22898	broad.mit.edu	37	chr8	142160983	142160983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgcccgagcagacccCgaaagccccatcctggacct	8	18	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:142160983C>T	uc003yvy.2	+	6	824	c.546C>T	c.(544-546)CCC>CCT	p.P182P	DENND3_uc010mep.2_Silent_p.P195P	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	182	DENN.									ovary(1)	1	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)			GAGCAGACCCCGAAAGCCCCA	0.597													T	142160983	C	T	142160983	2	4	189	1	0	0	0	0	0	0	0	1	4432	639	23	1		1	DENND3	8	142160983	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	9652	142160983	4203039	2332	100189											
DENND3	22898	broad.mit.edu	37	chr8	142200505	142200505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagactgcacggcggccGcctgtggtgctgtaagtccg	14	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:142200505G>A	uc003yvy.2	+	20	3406	c.3128G>A	c.(3127-3129)CGC>CAC	p.R1043H	DENND3_uc010mep.2_Missense_Mutation_p.R1004H|DENND3_uc003ywa.1_Missense_Mutation_p.R93H|DENND3_uc003ywb.2_Missense_Mutation_p.R93H	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1043										ovary(1)	1	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)			CACGGCGGCCGCCTGTGGTGC	0.627													A	142200505	G	A	142200505	3	1	189	1	0	0	0	0	1	0	0	0	4432	1087	38	1	3202	1	DENND3	8	142200505	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	39522	142200505	4163517	2333	100190											
SLC45A4	57210	broad.mit.edu	37	chr8	142228816	142228816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacgtgcaatgccgagTcgcttttgctgcgcatgatg	13	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:142228816T>C	uc003ywd.1	-	4	1078	c.770A>G	c.(769-771)GAC>GGC	p.D257G	SLC45A4_uc003ywc.1_Missense_Mutation_p.D257G|SLC45A4_uc010meq.1_Missense_Mutation_p.D255G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	308					transport	integral to membrane				ovary(2)	2	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)			CAATGCCGAGTCGCTTTTGCT	0.667													C	142228816	T	C	142228816	3	2	189	1	0	0	0	0	1	0	0	0	14643	1667	58	3	1646	3	SLC45A4	8	142228816	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	28311	142228816	4135206	2334	100191											
GPR20	2843	broad.mit.edu	37	chr8	142367700	142367700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtagtacacagcgaagcgCgtgggcagggacagccctac	14	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:142367700C>T	uc003ywf.2	-	2	413	c.324G>A	c.(322-324)ACG>ACA	p.T108T		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	108	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	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)			CAGCGAAGCGCGTGGGCAGGG	0.612													T	142367700	C	T	142367700	2	4	189	1	0	0	0	0	0	0	0	1	6680	755	27	1		1	GPR20	8	142367700	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	138884	142367700	3996322	2335	100192											
FLJ43860	389690	broad.mit.edu	37	chr8	142445294	142445294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgcagaagagggtgTgcagtagccgccagcggagc	17	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:142445294T>C	uc003ywi.2	-	29	3692	c.3611A>G	c.(3610-3612)CAC>CGC	p.H1204R	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1204							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GAAGAGGGTGTGCAGTAGCCG	0.667													C	142445294	T	C	142445294	3	2	189	1	0	0	0	0	1	0	0	0	5930	1696	59	3	361	3	FLJ43860	8	142445294	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	77594	142445294	3918728	2336	100193											
LYNX1	66004	broad.mit.edu	37	chr8	143856711	143856711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacgcgtgcttggagtaGccatcatacacagtctcgaa	12	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:143856711G>A	uc003yxc.1	-	4	495	c.225C>T	c.(223-225)GGC>GGT	p.G75G	LYNX1_uc003yxb.2_Intron|LYNX1_uc003yxd.1_Silent_p.G75G|LYNX1_uc003yxe.1_Silent_p.G75G	NM_177476	NP_803429	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform c	75	UPAR/Ly6.					anchored to membrane|plasma membrane					0	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)					GCTTGGAGTAGCCATCATACA	0.667													A	143856711	G	A	143856711	2	1	189	1	0	0	0	0	0	0	0	1	9108	958	34	2		2	LYNX1	8	143856711	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1411417	143856711	2507311	2337	100194											
LY6D	8581	broad.mit.edu	37	chr8	143867011	143867011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgctacccacctgtgtTcgtggtcttgcagaagcgag	12	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:143867011T>C	uc003yxf.1	-	2	221	c.145A>G	c.(145-147)AAC>GAC	p.N49D		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	49	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	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)					CCACCTGTGTTCGTGGTCTTG	0.642													C	143867011	T	C	143867011	3	2	189	1	0	0	0	0	1	0	0	0	9090	1783	62	3	249	3	LY6D	8	143867011	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10300	143867011	2497011	2338	100195											
CYP11B2	1585	broad.mit.edu	37	chr8	143994741	143994741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcccgcagcaagggcagctCggtggttgccttctggggat	16	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:143994741C>T	uc003yxk.1	-	6	1084	c.1081G>A	c.(1081-1083)GAG>AAG	p.E361K		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	361					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				0	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)	AAGGGCAGCTCGGTGGTTGCC	0.687									Familial_Hyperaldosteronism_type_I				T	143994741	C	T	143994741	3	4	189	1	0	0	0	0	1	0	0	0	4146	893	31	1	446	1	CYP11B2	8	143994741	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	127730	143994741	2369281	2339	100196											
PUF60	22827	broad.mit.edu	37	chr8	144900634	144900634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatggtgtcctcccccAgctcatagtagatagagccc	12	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:144900634A>G	uc003yzs.2	-	6	483	c.419T>C	c.(418-420)CTG>CCG	p.L140P	PUF60_uc003yzr.2_Missense_Mutation_p.L80P|PUF60_uc003yzt.2_Missense_Mutation_p.L123P|PUF60_uc003yzq.2_Missense_Mutation_p.L97P|PUF60_uc003yzu.1_Missense_Mutation_p.L129P	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	140	RRM 1.|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				0	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)			GTCCTCCCCCAGCTCATAGTA	0.627													G	144900634	A	G	144900634	3	3	189	1	0	0	0	0	1	0	0	0	12824	188	7	3	1288	3	PUF60	8	144900634	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	905893	144900634	1463388	2340	100197											
EPPK1	83481	broad.mit.edu	37	chr8	144945718	144945718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagcagctctcctggTgtcacggtgtccctcagccc	10	16	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:144945718T>C	uc003zaa.1	-	1	1717	c.1704A>G	c.(1702-1704)ACA>ACG	p.T568T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	568	Plectin 10.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			GCTCTCCTGGTGTCACGGTGT	0.647													C	144945718	T	C	144945718	2	2	189	1	0	0	0	0	0	0	0	1	5190	1683	59	3		3	EPPK1	8	144945718	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	45084	144945718	1418304	2341	100198											
PLEC	5339	broad.mit.edu	37	chr8	144994121	144994121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctcctccacgatggTaatgagaatcttgatgacct	7	13	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:144994121T>C	uc003zaf.1	-	32	10449	c.10279A>G	c.(10279-10281)ACC>GCC	p.T3427A	PLEC_uc003zab.1_Missense_Mutation_p.T3290A|PLEC_uc003zac.1_Missense_Mutation_p.T3294A|PLEC_uc003zad.2_Missense_Mutation_p.T3290A|PLEC_uc003zae.1_Missense_Mutation_p.T3258A|PLEC_uc003zag.1_Missense_Mutation_p.T3268A|PLEC_uc003zah.2_Missense_Mutation_p.T3276A|PLEC_uc003zaj.2_Missense_Mutation_p.T3317A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3427	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCCACGATGGTAATGAGAATC	0.627													C	144994121	T	C	144994121	3	2	189	1	0	0	0	0	1	0	0	0	12052	1638	57	3	3779	3	PLEC	8	144994121	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	48403	144994121	1369901	2342	100199											
PLEC	5339	broad.mit.edu	37	chr8	145005812	145005812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactgcccctcggcctcccGcacatctgagaagaactggg	10	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145005812G>A	uc003zaf.1	-	19	2775	c.2605C>T	c.(2605-2607)CGG>TGG	p.R869W	PLEC_uc003zab.1_Missense_Mutation_p.R732W|PLEC_uc003zac.1_Missense_Mutation_p.R736W|PLEC_uc003zad.2_Missense_Mutation_p.R732W|PLEC_uc003zae.1_Missense_Mutation_p.R700W|PLEC_uc003zag.1_Missense_Mutation_p.R710W|PLEC_uc003zah.2_Missense_Mutation_p.R718W|PLEC_uc003zaj.2_Missense_Mutation_p.R759W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	869	Spectrin 3.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCGGCCTCCCGCACATCTGAG	0.662													A	145005812	G	A	145005812	3	1	189	1	0	0	0	0	1	0	0	0	12052	1086	38	1	11505	1	PLEC	8	145005812	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	11691	145005812	1358210	2343	100200											
GRINA	2907	broad.mit.edu	37	chr8	145066997	145066997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcaccatcattggccgCgccaaggagtagccgagctc	10	15	2	0	rs139058041	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145066997C>T	uc003zan.1	+	7	1270	c.1104C>T	c.(1102-1104)CGC>CGT	p.R368R	GRINA_uc003zao.1_Silent_p.R368R|GRINA_uc003zap.1_Silent_p.R368R	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	368						integral to membrane				central_nervous_system(1)	1	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)			TCATTGGCCGCGCCAAGGAGT	0.607													T	145066997	C	T	145066997	2	4	189	1	0	0	0	0	0	0	0	1	6785	755	27	1		1	GRINA	8	145066997	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61185	145066997	1297025	2344	100201											
OPLAH	26873	broad.mit.edu	37	chr8	145112931	145112931	+	Frame_Shift_Del	DEL	C	C	-													acctgaagaagaggcgggaaCcccctcccgctgccacggtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145112930_145112930AC>A	uc003zar.3	-	7	1153	c.1071_1071GT>T	c.(1069-1071)ggtfs	p.G357fs	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Frame_Shift_Del_p.G135fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	357							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)	AGAGGCGGGAACCCCCTCCCG	0.657													-	145112931	C	-	145112931	7	5	189	1	0	1	0	1	0	0	0	0	10876	507	18	0	2878	0	OPLAH	8	145112931	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	45934	145112931	1251091	2345	100202											
GPAA1	8733	broad.mit.edu	37	chr8	145139749	145139749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctacatgcccgctgtcGgcttcttgctcctggtcctt	9	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145139749G>A	uc003zax.2	+	8	1245	c.1135G>A	c.(1135-1137)GGC>AGC	p.G379S	GPAA1_uc003zav.1_Missense_Mutation_p.G257S|GPAA1_uc003zaw.1_Missense_Mutation_p.G319S	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	379	Helical; (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	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)			GCCCGCTGTCGGCTTCTTGCT	0.602													A	145139749	G	A	145139749	3	1	189	1	0	0	0	0	1	0	0	0	6587	1116	39	1	1165	1	GPAA1	8	145139749	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	26818	145139749	1224273	2346	100203											
FBXL6	26233	broad.mit.edu	37	chr8	145579255	145579255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcctccaggccccggTaggcccgcttcagaccccgg	12	18	1	1	rs140699050		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145579255T>C	uc003zcb.2	-	9	1581	c.1556A>G	c.(1555-1557)TAC>TGC	p.Y519C	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'UTR|FBXL6_uc003zbz.2_Missense_Mutation_p.Y246C|FBXL6_uc003zca.2_Missense_Mutation_p.Y513C|FBXL6_uc010mfx.2_Missense_Mutation_p.Y280C|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	519					proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	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)			CAGGCCCCGGTAGGCCCGCTT	0.672													C	145579255	T	C	145579255	3	2	189	1	0	0	0	0	1	0	0	0	5723	1638	57	3	67	3	FBXL6	8	145579255	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	439506	145579255	784767	2347	100204											
FBXL6	26233	broad.mit.edu	37	chr8	145580194	145580194	+	Splice_Site	DEL	G	G	-													gttcaacagccgcagcacctGggggcaaggtccaggctgta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145580193_145580193TG>T	uc003zcb.3	-	7	1070	c.994_splice	c.e7-1	p.V332_splice	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Splice_Site_p.V59_splice|FBXL6_uc003zca.3_Splice_Site_p.V326_splice|FBXL6_uc010mfx.3_Splice_Site_p.V93_splice|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	332					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)			CCGCAGCACCTGGGGGCAAGG	0.672													-	145580194	G	-	145580194	8	5	189	1	0	1	0	1	0	0	1	0	5723	1363	47	0		0	FBXL6	8	145580194	Splice_Site	DEL	G	TCGA-CG-5721-01A-11D-1600-08	939	145580194	783828	2348	100205											
ADCK5	203054	broad.mit.edu	37	chr8	145608333	145608333	+	Frame_Shift_Del	DEL	G	G	-													gtgctctccaccgcggtagtGggggcgcccctgctcctcgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145608333delG	uc003zch.2	+	3	222	c.168delG	c.(166-168)GTGfs	p.V56fs	ADCK5_uc003zcg.2_RNA	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	56	Helical; (Potential).					integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	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)			CCGCGGTAGTGGGGGCGCCCC	0.667													-	145608333	G	-	145608333	7	5	189	1	0	1	0	1	0	0	0	0	291	1335	47	0	178	0	ADCK5	8	145608333	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	28139	145608333	755689	2349	100206											
CPSF1	29894	broad.mit.edu	37	chr8	145619366	145619366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatgaggttgcggtcgCggtcagacactggggagcag	16	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145619366C>T	uc003zcj.2	-	34	3896	c.3821G>A	c.(3820-3822)CGC>CAC	p.R1274H	MIR939_hsa-mir-939|MI0005761_RNA	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1274					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			skin(1)	1	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)			GTTGCGGTCGCGGTCAGACAC	0.682													T	145619366	C	T	145619366	3	4	189	1	0	0	0	0	1	0	0	0	3824	768	27	1	530	1	CPSF1	8	145619366	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	11033	145619366	744656	2350	100207											
SLC39A4	55630	broad.mit.edu	37	chr8	145640188	145640188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgctgttggagcagGgcagggctcagttgggccca	16	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145640188G>A	uc003zcq.2	-	5	997	c.897C>T	c.(895-897)GCC>GCT	p.A299A	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_Silent_p.A23A|SLC39A4_uc003zcp.2_Silent_p.A274A	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	299	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	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)			GTTGGAGCAGGGCAGGGCTCA	0.662													A	145640188	G	A	145640188	2	1	189	1	0	0	0	0	0	0	0	1	14620	1219	43	4		4	SLC39A4	8	145640188	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	20822	145640188	723834	2351	100208											
SLC39A4	55630	broad.mit.edu	37	chr8	145640283	145640283	+	Splice_Site	DEL	G	G	-													cctggcactcaggcatacctGgggggtggcaggacaggctc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145640282_145640282TG>T	uc003zcq.3	-	5	905	c.805_splice	c.e5-1	p.V269_splice	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Splice_Site_p.V244_splice	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	269						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)			CAGGCATACCTGGGGGGTGGC	0.672													-	145640283	G	-	145640283	8	5	189	1	0	1	0	1	0	0	1	0	14620	1363	47	0		0	SLC39A4	8	145640283	Splice_Site	DEL	G	TCGA-CG-5721-01A-11D-1600-08	95	145640283	723739	2352	100209											
NFKBIL2	4796	broad.mit.edu	37	chr8	145655794	145655794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagcactcacctgacagGccaaggaagctaaggccttg	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145655794G>A	uc011llg.1	-	25	3951	c.3936C>T	c.(3934-3936)GGC>GGT	p.G1312G	VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1312					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			CACCTGACAGGCCAAGGAAGC	0.602													A	145655794	G	A	145655794	2	1	189	1	0	0	0	0	0	0	0	1	10382	1190	42	2		2	NFKBIL2	8	145655794	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	15511	145655794	708228	2353	100210											
MFSD3	113655	broad.mit.edu	37	chr8	145735779	145735779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtttcctcttctccTgctggaccacggcgtttctg	9	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145735779T>C	uc003zdi.1	+	2	884	c.719T>C	c.(718-720)CTG>CCG	p.L240P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	240	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	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)			CCTCTTCTCCTGCTGGACCAC	0.642													C	145735779	T	C	145735779	3	2	189	1	0	0	0	0	1	0	0	0	9532	1580	55	3	725	3	MFSD3	8	145735779	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	79985	145735779	628243	2354	100211											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773654	145773654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcttcaggaagggtgaCggcctcctctctgggaagaa	13	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145773654C>T	uc003zdt.1	-	6	1371	c.816G>A	c.(814-816)CCG>CCA	p.P272P	ARHGAP39_uc011llk.1_Silent_p.P272P|ARHGAP39_uc003zds.1_Silent_p.P272P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	272	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGAAGGGTGACGGCCTCCTCT	0.716													T	145773654	C	T	145773654	2	4	189	1	0	0	0	0	0	0	0	1	884	523	19	1		1	ARHGAP39	8	145773654	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	37875	145773654	590368	2355	100212											
ARHGAP39	80728	broad.mit.edu	37	chr8	145780968	145780968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagaagctggccgtccGcactgtaatcccggtaaatc	11	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145780968G>A	uc003zdt.1	-	5	1127	c.572C>T	c.(571-573)GCG>GTG	p.A191V	ARHGAP39_uc011llk.1_Missense_Mutation_p.A191V|ARHGAP39_uc003zds.1_Missense_Mutation_p.A191V	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	191					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CTGGCCGTCCGCACTGTAATC	0.493													A	145780968	G	A	145780968	3	1	189	1	0	0	0	0	1	0	0	0	884	1087	38	1	2808	1	ARHGAP39	8	145780968	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7314	145780968	583054	2356	100213											
ZNF34	80778	broad.mit.edu	37	chr8	145999512	145999512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagggcttctcttcAgtgtgaagccgctgatgctt	11	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145999512A>G	uc003zdy.3	-	6	924	c.822T>C	c.(820-822)ACT>ACC	p.T274T	ZNF34_uc010mgb.2_Silent_p.T171T|ZNF34_uc003zdx.3_Silent_p.T253T	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GCTTCTCTTCAGTGTGAAGCC	0.463													G	145999512	A	G	145999512	2	3	189	1	0	0	0	0	0	0	0	1	17853	175	7	3		3	ZNF34	8	145999512	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	218544	145999512	364510	2357	100214											
ZNF34	80778	broad.mit.edu	37	chr8	145999668	145999668	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagttacgaactgtattTgttttttttgacctgtgtac	8	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:145999668T>C	uc003zdy.3	-	6	768	c.666A>G	c.(664-666)ACA>ACG	p.T222T	ZNF34_uc010mgb.2_Silent_p.T119T|ZNF34_uc003zdx.3_Silent_p.T201T	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GAACTGTATTTGTTTTTTTTG	0.353													C	145999668	T	C	145999668	2	2	189	1	0	0	0	0	0	0	0	1	17853	1799	63	3		3	ZNF34	8	145999668	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	156	145999668	364354	2358	100215											
ZNF7	7553	broad.mit.edu	37	chr8	146054477	146054477	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaccactgagcctcatggTaggaagcttgactgcctcct	9	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:146054477T>C	uc003zeg.3	+	2	140	c.3_splice	c.e2+2	p.M1_splice	ZNF7_uc010mge.2_Splice_Site_p.M1_splice|ZNF7_uc011lln.1_Splice_Site|ZNF7_uc003zeh.2_Splice_Site_p.M1_splice|ZNF7_uc003zej.2_Splice_Site_p.M1_splice	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	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)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	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)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGCCTCATGGTAGGAAGCTTG	0.592													C	146054477	T	C	146054477	5	2	189	1	0	0	0	0	0	0	1	0	18099	1652	57	3	7	3	ZNF7	8	146054477	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	54809	146054477	309545	2359	100216											
ZNF250	58500	broad.mit.edu	37	chr8	146108158	146108158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccccagaatcactgttTgctctgaaattaatggcttc	6	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr8:146108158T>C	uc003zeq.3	-	6	542	c.425A>G	c.(424-426)CAA>CGA	p.Q142R	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.Q137R|ZNF250_uc010mgg.2_Missense_Mutation_p.Q137R	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AATCACTGTTTGCTCTGAAAT	0.393													C	146108158	T	C	146108158	3	2	189	1	0	0	0	0	1	0	0	0	17792	1812	63	3	1261	3	ZNF250	8	146108158	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	53681	146108158	255864	2360	100217											
FOXD4	2298	broad.mit.edu	37	chr9	117563	117563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgccattgtcgaacatgTcctgggaggcggggtccagg	16	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:117563T>C	uc003zfz.2	-	1	855	c.557A>G	c.(556-558)GAC>GGC	p.D186G		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	186	Fork-head.				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			skin(1)	1	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)		GTCGAACATGTCCTGGGAGGC	0.662													C	117563	T	C	117563	3	2	189	1	0	0	0	0	1	0	0	0	5999	1667	58	3	766	3	FOXD4	9	117563	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08		117563	141095868	2361	100218											
DOCK8	81704	broad.mit.edu	37	chr9	332402	332402	+	Frame_Shift_Del	DEL	A	A	-													ttctttttattggtagattgAaaaagtcctgcagcagggag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:332401_332401GA>G	uc003zgf.2	+	9	1160	c.1048_1048GA>G	c.(1048-1050)gaafs	p.E350fs	DOCK8_uc011lls.1_Frame_Shift_Del_p.E350fs|DOCK8_uc022bcu.1_Frame_Shift_Del_p.E282fs|DOCK8_uc010mgv.3_Frame_Shift_Del_p.E282fs|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Frame_Shift_Del_p.E282fs|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	350	DHR-1.				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)		TTGGTAGATTGAAAAAGTCCT	0.338													-	332402	A	-	332402	7	5	189	1	0	1	0	1	0	0	0	0	4693	246	9	0	1087	0	DOCK8	9	332402	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	214839	332402	140881029	2362	100219											
DOCK8	81704	broad.mit.edu	37	chr9	334363	334363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccttgagagggaggtaActgatgtggactctgtggtt	14	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:334363A>G	uc003zgf.2	+	11	1376	c.1264A>G	c.(1264-1266)ACT>GCT	p.T422A	DOCK8_uc011lls.1_Missense_Mutation_p.T422A|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.T354A|DOCK8_uc003zgg.2_Missense_Mutation_p.T354A|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	422	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		GAGGGAGGTAACTGATGTGGA	0.547													G	334363	A	G	334363	3	3	189	1	0	0	0	0	1	0	0	0	4693	43	2	3	1306	3	DOCK8	9	334363	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1961	334363	140879068	2363	100220											
DOCK8	81704	broad.mit.edu	37	chr9	382641	382641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccagacctcgcggggacaCactccgcagcagacgaggaa	12	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:382641C>A	uc003zgf.2	+	22	2846	c.2734C>A	c.(2734-2736)CAC>AAC	p.H912N	DOCK8_uc010mgu.2_Missense_Mutation_p.H214N|DOCK8_uc010mgv.2_Missense_Mutation_p.H844N|DOCK8_uc010mgw.1_Missense_Mutation_p.H214N|DOCK8_uc003zgk.2_Missense_Mutation_p.H370N	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	912					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		CGCGGGGACACACTCCGCAGC	0.517													A	382641	C	A	382641	3	1	189	1	0	0	0	0	1	0	0	0	4693	478	17	5	2820	5	DOCK8	9	382641	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	48278	382641	140830790	2364	100221											
DMRT1	1761	broad.mit.edu	37	chr9	894037	894037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgtctctgtttccttatTacaacaatctatacaactgc	4	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:894037T>C	uc003zgv.2	+	3	813	c.664T>C	c.(664-666)TAC>CAC	p.Y222H	DMRT1_uc003zgu.1_Missense_Mutation_p.Y222H	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	222					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GTTTCCTTATTACAACAATCT	0.537											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	894037	T	C	894037	3	2	189	1	0	0	0	0	1	0	0	0	4585	1754	61	3	674	3	DMRT1	9	894037	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	511396	894037	140319394	2365	100222											
DMRT1	1761	broad.mit.edu	37	chr9	916875	916875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagttcttcacttttgaggAtgctccctcttacccggaag	8	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:916875A>G	uc003zgv.2	+	4	1084	c.935A>G	c.(934-936)GAT>GGT	p.D312G		NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	312					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ACTTTTGAGGATGCTCCCTCT	0.552													G	916875	A	G	916875	3	3	189	1	0	0	0	0	1	0	0	0	4585	333	12	3	949	3	DMRT1	9	916875	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	22838	916875	140296556	2366	100223											
SMARCA2	6595	broad.mit.edu	37	chr9	2161726	2161726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaatggaagaggaagTacggcttaagaagcgaaaaa	15	3	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:2161726T>C	uc003zhc.2	+	28	4121	c.4022T>C	c.(4021-4023)GTA>GCA	p.V1341A	SMARCA2_uc003zhd.2_Missense_Mutation_p.V1341A|SMARCA2_uc010mha.2_Missense_Mutation_p.V1274A|SMARCA2_uc011llw.1_Missense_Mutation_p.V45A|SMARCA2_uc003zhf.2_Missense_Mutation_p.V5A|SMARCA2_uc011llx.1_Missense_Mutation_p.V5A|SMARCA2_uc003zhe.2_Missense_Mutation_p.V47A|SMARCA2_uc003zhg.2_Missense_Mutation_p.V5A|SMARCA2_uc010mhb.2_Missense_Mutation_p.V29A	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1341					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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAAGAGGAAGTACGGCTTAAG	0.433													C	2161726	T	C	2161726	3	2	189	1	0	0	0	0	1	0	0	0	14769	1638	57	3	4128	3	SMARCA2	9	2161726	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1244851	2161726	139051705	2367	100224											
RFX3	5991	broad.mit.edu	37	chr9	3262957	3262957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacattggcaaagtcgacaCggttgaggtcactaagcatc	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:3262957C>T	uc003zhr.2	-	14	1895	c.1583G>A	c.(1582-1584)CGT>CAT	p.R528H	RFX3_uc010mhd.2_Missense_Mutation_p.R528H|RFX3_uc003zhs.1_Missense_Mutation_p.R528H	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	528					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			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAAGTCGACACGGTTGAGGTC	0.443													T	3262957	C	T	3262957	3	4	189	1	0	0	0	0	1	0	0	0	13264	536	19	1	842	1	RFX3	9	3262957	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1101231	3262957	137950474	2368	100225											
GLIS3	169792	broad.mit.edu	37	chr9	4118618	4118618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacctggtggatgagtgcCgaggactagggtaaggagag	20	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:4118618C>T	uc003zhw.1	-	3	589	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	GLIS3_uc003zhx.1_Missense_Mutation_p.R287Q|GLIS3_uc003zic.1_Missense_Mutation_p.R287Q|GLIS3_uc003zie.1_Missense_Mutation_p.R287Q|GLIS3_uc010mhh.1_Missense_Mutation_p.R162Q|GLIS3_uc003zid.1_Missense_Mutation_p.R65Q|GLIS3_uc010mhi.1_Missense_Mutation_p.R94Q|GLIS3_uc003zif.1_Missense_Mutation_p.R65Q|GLIS3_uc003zig.1_Missense_Mutation_p.R131Q|GLIS3_uc003zih.1_Missense_Mutation_p.R65Q|GLIS3_uc003zhy.1_Missense_Mutation_p.R65Q|GLIS3_uc003zhz.1_Missense_Mutation_p.R65Q|GLIS3_uc003zib.1_Missense_Mutation_p.R131Q|GLIS3_uc010mhg.1_Missense_Mutation_p.R65Q	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	132	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		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)		GGATGAGTGCCGAGGACTAGG	0.542													T	4118618	C	T	4118618	3	4	189	1	0	0	0	0	1	0	0	0	6447	652	23	1	1964	1	GLIS3	9	4118618	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	855661	4118618	137094813	2369	100226											
ERMP1	79956	broad.mit.edu	37	chr9	5811260	5811260	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtttccatgtcgatacTtagaagcagcagccagcata	8	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:5811260T>G	uc003zjm.1	-	7	1232	c.1178A>C	c.(1177-1179)AAG>ACG	p.K393T	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.K7T	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	393	Extracellular (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ATGTCGATACTTAGAAGCAGC	0.363													G	5811260	T	G	5811260	3	3	189	1	0	0	0	0	1	0	0	0	5236	1609	56	5	1572	5	ERMP1	9	5811260	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1692642	5811260	135402171	2370	100227											
KIAA2026	158358	broad.mit.edu	37	chr9	5929149	5929149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacagcttgcctccgatgaTaccattttccctaaaaataa	4	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:5929149T>C	uc003zjq.3	-	6	2609	c.2393A>G	c.(2392-2394)TAT>TGT	p.Y798C	KIAA2026_uc010mht.2_5'UTR	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	798										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCTCCGATGATACCATTTTCC	0.299													C	5929149	T	C	5929149	3	2	189	1	0	0	0	0	1	0	0	0	8270	1406	49	3	3930	3	KIAA2026	9	5929149	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	117889	5929149	135284282	2371	100228											
KIAA2026	158358	broad.mit.edu	37	chr9	5968410	5968410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctataaaccttatttcaccTggactaagaggctctccaaa	5	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:5968410T>C	uc003zjq.3	-	3	2037	c.1821A>G	c.(1819-1821)CCA>CCG	p.P607P		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	607										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTATTTCACCTGGACTAAGAG	0.368													C	5968410	T	C	5968410	2	2	189	1	0	0	0	0	0	0	0	1	8270	1567	55	3		3	KIAA2026	9	5968410	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	39261	5968410	135245021	2372	100229											
KIAA2026	158358	broad.mit.edu	37	chr9	5988525	5988525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctagatgtaactgctatcGttgtcttttctctcaagtgc	7	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:5988525G>A	uc003zjq.3	-	2	830	c.614C>T	c.(613-615)ACG>ATG	p.T205M		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	205										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTGCTATCGTTGTCTTTTC	0.448													A	5988525	G	A	5988525	3	1	189	1	0	0	0	0	1	0	0	0	8270	1145	40	1	5725	1	KIAA2026	9	5988525	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	20115	5988525	135224906	2373	100230											
RANBP6	26953	broad.mit.edu	37	chr9	6012876	6012876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaccgaaaatattctAcatatttaaatgaagttgga	7	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:6012876A>G	uc003zjr.2	-	1	2743	c.2732T>C	c.(2731-2733)GTA>GCA	p.V911A	RANBP6_uc011lmf.1_Missense_Mutation_p.V559A|RANBP6_uc003zjs.2_Missense_Mutation_p.V499A	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	911	HEAT 6.				protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAAATATTCTACATATTTAAA	0.433													G	6012876	A	G	6012876	3	3	189	1	0	0	0	0	1	0	0	0	13031	391	14	3	589	3	RANBP6	9	6012876	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	24351	6012876	135200555	2374	100231											
UHRF2	115426	broad.mit.edu	37	chr9	6486850	6486850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgttcacagaccccaTgttggtggaattcatggtcg	13	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:6486850T>C	uc003zjy.2	+	9	1762	c.1422T>C	c.(1420-1422)CAT>CAC	p.H474H	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Silent_p.H251H|UHRF2_uc003zkb.2_RNA	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	474	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ACAGACCCCATGTTGGTGGAA	0.393													C	6486850	T	C	6486850	2	2	189	1	0	0	0	0	0	0	0	1	16967	1461	51	3		3	UHRF2	9	6486850	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	473974	6486850	134726581	2375	100232											
GLDC	2731	broad.mit.edu	37	chr9	6536071	6536071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcctacgcaccttcagcGgattgaccctggggtcgatg	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:6536071G>A	uc003zkc.2	-	23	3024	c.2831C>T	c.(2830-2832)CCG>CTG	p.P944L		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	944					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACCTTCAGCGGATTGACCCT	0.512													A	6536071	G	A	6536071	3	1	189	1	0	0	0	0	1	0	0	0	6433	1116	39	1	243	1	GLDC	9	6536071	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	49221	6536071	134677360	2376	100233											
KDM4C	23081	broad.mit.edu	37	chr9	6984274	6984274	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccccgactcagtcacagaTgacctcaaggtcagtgaaaa	8	12	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:6984274T>G	uc003zkh.2	+	10	1804	c.1224T>G	c.(1222-1224)GAT>GAG	p.D408E	KDM4C_uc010mhu.2_Missense_Mutation_p.D430E|KDM4C_uc011lmi.1_Missense_Mutation_p.D408E|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.D408E|KDM4C_uc011lmk.1_Missense_Mutation_p.D227E|KDM4C_uc011lml.1_Missense_Mutation_p.D95E	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	408					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			ovary(1)	1						CAGTCACAGATGACCTCAAGG	0.512													G	6984274	T	G	6984274	3	3	189	1	0	0	0	0	1	0	0	0	8130	1461	51	5	1328	5	KDM4C	9	6984274	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	448203	6984274	134229157	2377	100234											
PTPRD	5789	broad.mit.edu	37	chr9	8500960	8500960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatggagtattcagtgataAtgccattctgtttttccact	8	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:8500960A>G	uc003zkk.2	-	23	2633	c.1922T>C	c.(1921-1923)ATT>ACT	p.I641T	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.I641T|PTPRD_uc003zkm.2_Missense_Mutation_p.I628T|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	641	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		TTCAGTGATAATGCCATTCTG	0.463										TSP Lung(15;0.13)			G	8500960	A	G	8500960	3	3	189	1	0	0	0	0	1	0	0	0	12799	101	4	3	3976	3	PTPRD	9	8500960	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1516686	8500960	132712471	2378	100235											
PTPRD	5789	broad.mit.edu	37	chr9	8518133	8518133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggacatccctcggggCactggatggtgcttgctctg	14	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:8518133C>T	uc003zkk.2	-	20	1969	c.1258G>A	c.(1258-1260)GCC>ACC	p.A420T	PTPRD_uc003zkp.2_Missense_Mutation_p.A420T|PTPRD_uc003zkq.2_Missense_Mutation_p.A420T|PTPRD_uc003zkr.2_Missense_Mutation_p.A414T|PTPRD_uc003zks.2_Missense_Mutation_p.A410T|PTPRD_uc003zkl.2_Missense_Mutation_p.A420T|PTPRD_uc003zkm.2_Missense_Mutation_p.A407T|PTPRD_uc003zkn.2_Missense_Mutation_p.A420T|PTPRD_uc003zko.2_Missense_Mutation_p.A417T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	420	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		TCCCTCGGGGCACTGGATGGT	0.512										TSP Lung(15;0.13)			T	8518133	C	T	8518133	3	4	189	1	0	0	0	0	1	0	0	0	12799	710	25	2	4652	2	PTPRD	9	8518133	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	17173	8518133	132695298	2379	100236											
PTPRD	5789	broad.mit.edu	37	chr9	8521543	8521543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcttggtgggacacggCgaactggaacaaaacacaag	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:8521543C>T	uc003zkk.2	-	19	1406	c.695G>A	c.(694-696)CGC>CAC	p.R232H	PTPRD_uc003zkp.2_Missense_Mutation_p.R232H|PTPRD_uc003zkq.2_Missense_Mutation_p.R232H|PTPRD_uc003zkr.2_Missense_Mutation_p.R226H|PTPRD_uc003zks.2_Missense_Mutation_p.R222H|PTPRD_uc003zkl.2_Missense_Mutation_p.R232H|PTPRD_uc003zkm.2_Missense_Mutation_p.R219H|PTPRD_uc003zkn.2_Missense_Mutation_p.R232H|PTPRD_uc003zko.2_Missense_Mutation_p.R229H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	232	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		TGGGACACGGCGAACTGGAAC	0.448										TSP Lung(15;0.13)			T	8521543	C	T	8521543	3	4	189	1	0	0	0	0	1	0	0	0	12799	768	27	1	5219	1	PTPRD	9	8521543	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3410	8521543	132691888	2380	100237											
FREM1	158326	broad.mit.edu	37	chr9	14746967	14746967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgatcccattgcactgaTacagcttctggatgccttct	9	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:14746967T>C	uc003zlm.2	-	34	6682	c.6092A>G	c.(6091-6093)TAT>TGT	p.Y2031C	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.Y567C	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2031					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		ATTGCACTGATACAGCTTCTG	0.493													C	14746967	T	C	14746967	3	2	189	1	0	0	0	0	1	0	0	0	6044	1406	49	3	463	3	FREM1	9	14746967	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6225424	14746967	126466464	2381	100238											
C9orf93	203238	broad.mit.edu	37	chr9	15777690	15777690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattagtctggtaatggaaTgtatacctctgcacagtagc	9	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:15777690T>C	uc003zmd.2	+	19	3079	c.2764T>C	c.(2764-2766)TGT>CGT	p.C922R	C9orf93_uc003zme.2_Missense_Mutation_p.C837R|C9orf93_uc011lmu.1_Missense_Mutation_p.C930R|C9orf93_uc003zmf.1_Missense_Mutation_p.C230R	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	922											0				GBM - Glioblastoma multiforme(50;4.84e-07)		GGTAATGGAATGTATACCTCT	0.398													C	15777690	T	C	15777690	3	2	189	1	0	0	0	0	1	0	0	0	2506	1464	51	3	2834	3	C9orf93	9	15777690	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1030723	15777690	125435741	2382	100239											
HAUS6	54801	broad.mit.edu	37	chr9	19083042	19083042	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccacaaagaccgaacCtttggaaacagaaacaaaat	7	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:19083042C>A	uc003znk.2	-	8	953	c.700_splice	c.e8-1	p.V234_splice	HAUS6_uc011lmz.1_Splice_Site|HAUS6_uc003znl.1_Splice_Site_p.V98_splice|HAUS6_uc003znm.1_Splice_Site	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						AAGACCGAACCTTTGGAAACA	0.328													A	19083042	C	A	19083042	5	1	189	1	0	0	0	0	0	0	1	0	6970	695	24	5	2208	5	HAUS6	9	19083042	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3305352	19083042	122130389	2383	100240											
KIAA1797	54914	broad.mit.edu	37	chr9	20923715	20923715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaagcagccttgctgtcgTcgtatctagacatgaagcca	9	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:20923715T>C	uc003zog.1	+	27	3272	c.2909T>C	c.(2908-2910)GTC>GCC	p.V970A	KIAA1797_uc003zoh.1_Missense_Mutation_p.V406A	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	970						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CTTGCTGTCGTCGTATCTAGA	0.438													C	20923715	T	C	20923715	3	2	189	1	0	0	0	0	1	0	0	0	8258	1667	58	3	3003	3	KIAA1797	9	20923715	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1840673	20923715	120289716	2384	100241											
IFNB1	3456	broad.mit.edu	37	chr9	21077708	21077708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaagttcatcctgtccTtgaggcagtattcaagcctc	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:21077708T>G	uc003zok.2	-	1	236	c.161A>C	c.(160-162)AAG>ACG	p.K54T		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast precursor	54					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CATCCTGTCCTTGAGGCAGTA	0.478													G	21077708	T	G	21077708	3	3	189	1	0	0	0	0	1	0	0	0	7546	1609	56	5	406	5	IFNB1	9	21077708	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	153993	21077708	120135723	2385	100242											
IFNA17	3451	broad.mit.edu	37	chr9	21227977	21227977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaactggttgccatcaaActcctcctggggaagtccaa	10	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:21227977A>G	uc003zos.1	-	1	245	c.196T>C	c.(196-198)TTT>CTT	p.F66L	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	66					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				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTGCCATCAAACTCCTCCTGG	0.507													G	21227977	A	G	21227977	3	3	189	1	0	0	0	0	1	0	0	0	7536	43	2	3	377	3	IFNA17	9	21227977	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	150269	21227977	119985454	2386	100243											
IFNA5	3442	broad.mit.edu	37	chr9	21304924	21304924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcagctgctggtaaagtTcagtgtagaatttgtctaga	10	6	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:21304924T>C	uc011lnh.1	-	1	332	c.332A>G	c.(331-333)GAA>GGA	p.E111G		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5 precursor	111					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			ovary(1)	1				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGGTAAAGTTCAGTGTAGAA	0.468													C	21304924	T	C	21304924	3	2	189	1	0	0	0	0	1	0	0	0	7540	1783	62	3	241	3	IFNA5	9	21304924	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	76947	21304924	119908507	2387	100244											
IFNA1	3439	broad.mit.edu	37	chr9	21441040	21441041	+	Missense_Mutation	DNP	AA	AA	GG													atgagatccctctctttatcAacaaacttgcaagaaagatt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:21441040_21441041AA>GG	uc003zpd.1	+	1	601_602	c.534_535AA>GG	c.(532-537)TCAACA>TCGGCA	p.T179A		NM_024013	NP_076918	P01562	IFNA1_HUMAN	interferon, alpha 1 precursor	179					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			ovary(2)	2				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TCTCTTTATCAACAAACTTGCA	0.401													GG	21441041	AA	GG	21441040	3	3	189	1	0	0	0	0	1	0	0	0	7531	117	5	3	536	3	IFNA1	9	21441040	Missense_Mutation	DNP	AA	TCGA-CG-5721-01A-11D-1600-08	136116	21441040	119772391	2388	100245											
IFNE	338376	broad.mit.edu	37	chr9	21481472	21481472	+	Frame_Shift_Del	DEL	T	T	-													agaatggccagagtgtgtccTttttggtactgctgaggact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:21481471_21481471CT>C	uc003zpg.3	-	0	842	c.223_223AG>G	c.(223-225)ggafs	p.G75fs	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	75					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						AGAGTGTGTCCTTTTTGGTAC	0.453													-	21481472	T	-	21481472	7	5	189	1	0	1	0	1	0	0	0	0	7547	1606	56	0	408	0	IFNE	9	21481472	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	40432	21481472	119731959	2389	100246											
PLAA	9373	broad.mit.edu	37	chr9	26920381	26920381	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtctgtccttctctagtAccttaaaataaaaattttaa	4	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:26920381A>G	uc003zqd.2	-	8	1466	c.1041T>C	c.(1039-1041)GGT>GGC	p.G347G	PLAA_uc003zqe.2_Silent_p.G347G	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	347					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTTCTCTAGTACCTTAAAATA	0.323													G	26920381	A	G	26920381	2	3	189	1	0	0	0	0	0	0	0	1	12011	405	14	3		3	PLAA	9	26920381	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5438909	26920381	114293050	2390	100247											
LRRC19	64922	broad.mit.edu	37	chr9	26998038	26998038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttctagactggagaggtTaccaaaaccgttattatgta	8	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:26998038T>C	uc003zqh.2	-	3	394	c.283A>G	c.(283-285)AAC>GAC	p.N95D	IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19 precursor	95	Extracellular (Potential).|LRR 2.					integral to membrane					0		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CTGGAGAGGTTACCAAAACCG	0.318													C	26998038	T	C	26998038	3	2	189	1	0	0	0	0	1	0	0	0	8975	1754	61	3	841	3	LRRC19	9	26998038	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	77657	26998038	114215393	2391	100248											
IFT74	80173	broad.mit.edu	37	chr9	27009025	27009025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgattttaggaaagaaAaacaaatcagaagtgtcgaa	8	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:27009025A>G	uc010mja.2	+	9	722	c.595A>G	c.(595-597)AAA>GAA	p.K199E	IFT74_uc010mjb.2_Missense_Mutation_p.K199E|IFT74_uc003zqf.3_Missense_Mutation_p.K199E|IFT74_uc003zqg.3_Missense_Mutation_p.K199E	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a	199	Potential.					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAGGAAAGAAAAACAAATCAG	0.294													G	27009025	A	G	27009025	3	3	189	1	0	0	0	0	1	0	0	0	7563	15	1	3	625	3	IFT74	9	27009025	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	10987	27009025	114204406	2392	100249											
DDX58	23586	broad.mit.edu	37	chr9	32485235	32485235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagctgagctatgatgTatttaaatttgtcgctaatc	7	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:32485235T>C	uc003zra.2	-	10	1576	c.1418A>G	c.(1417-1419)TAC>TGC	p.Y473C	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.Y428C|DDX58_uc011lnr.1_Missense_Mutation_p.Y270C|DDX58_uc010mji.2_Missense_Mutation_p.Y402C	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	473					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AGCTATGATGTATTTAAATTT	0.378													C	32485235	T	C	32485235	3	2	189	1	0	0	0	0	1	0	0	0	4375	1638	57	3	1395	3	DDX58	9	32485235	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5476210	32485235	108728196	2393	100250											
APTX	54840	broad.mit.edu	37	chr9	32987768	32987768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcattcaccatgtggagaAcctggccaggctgcagcttc	11	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:32987768A>G	uc003zrm.2	-	3	454	c.257T>C	c.(256-258)GTT>GCT	p.V86A	APTX_uc010mjm.2_Intron|APTX_uc003zrj.2_5'UTR|APTX_uc011lns.1_Intron|APTX_uc003zrl.2_Intron|APTX_uc003zrn.2_5'UTR|APTX_uc003zro.2_Missense_Mutation_p.V86A|APTX_uc003zrp.2_5'UTR|APTX_uc003zrq.2_5'UTR|APTX_uc003zrr.2_Intron|APTX_uc003zrs.2_Missense_Mutation_p.V86A|APTX_uc003zrt.2_5'UTR|APTX_uc003zru.2_Intron|APTX_uc003zrv.2_Missense_Mutation_p.V100A|APTX_uc003zrw.2_Missense_Mutation_p.V86A|APTX_uc003zrx.2_Missense_Mutation_p.V86A|APTX_uc003zry.2_Missense_Mutation_p.V86A|APTX_uc003zrz.2_Intron|APTX_uc003zsa.1_Intron|APTX_uc003zsb.1_Intron|APTX_uc003zsc.1_Intron	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	100	Interactions with ADPRT and NCL.				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			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CATGTGGAGAACCTGGCCAGG	0.458								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	32987768	A	G	32987768	3	3	189	1	0	0	0	0	1	0	0	0	820	43	2	3	800	3	APTX	9	32987768	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	502533	32987768	108225663	2394	100251											
DNAJA1	3301	broad.mit.edu	37	chr9	33038770	33038770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggaaggaagtggaagagActgatgagatggaccaagta	16	3	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:33038770A>G	uc003zsd.1	+	9	1246	c.1063A>G	c.(1063-1065)ACT>GCT	p.T355A	DNAJA1_uc011lnt.1_Missense_Mutation_p.T198A	NM_001539	NP_001530	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	355					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				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AGTGGAAGAGACTGATGAGAT	0.443													G	33038770	A	G	33038770	3	3	189	1	0	0	0	0	1	0	0	0	4611	275	10	3	1093	3	DNAJA1	9	33038770	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	51002	33038770	108174661	2395	100252											
SMU1	55234	broad.mit.edu	37	chr9	33053213	33053213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtagaatcacactgttgaCggtaatatctgtccctgcgg	10	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:33053213C>T	uc003zsf.1	-	10	1306	c.1198G>A	c.(1198-1200)GTC>ATC	p.V400I	SMU1_uc010mjo.1_Missense_Mutation_p.V400I|SMU1_uc010mjp.1_Intron|SMU1_uc011lnu.1_Missense_Mutation_p.V239I	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog	400	WD 5.					cytoplasm|nucleus				ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ACACTGTTGACGGTAATATCT	0.438													T	33053213	C	T	33053213	3	4	189	1	0	0	0	0	1	0	0	0	14817	536	19	1	355	1	SMU1	9	33053213	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	14443	33053213	108160218	2396	100253											
B4GALT1	2683	broad.mit.edu	37	chr9	33120581	33120581	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacattgaggagcttagcAcgattgaatatagtgtctcc	9	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:33120581A>G	uc003zsg.2	-	3	861	c.672T>C	c.(670-672)CGT>CGC	p.R224R		NM_001497	NP_001488	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	224	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GGAGCTTAGCACGATTGAATA	0.448													G	33120581	A	G	33120581	2	3	189	1	0	0	0	0	0	0	0	1	1270	146	6	3		3	B4GALT1	9	33120581	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	67368	33120581	108092850	2397	100254											
NFX1	4799	broad.mit.edu	37	chr9	33294465	33294465	+	Frame_Shift_Del	DEL	A	A	-													ctgaattcattcctcaggagAaaaaaaattctggtctaaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:33294464_33294464GA>G	uc003zsr.3	+	1	225	c.72_72GA>G	c.(70-72)gagfs	p.E24fs	NFX1_uc011lnw.2_Frame_Shift_Del_p.E24fs|NFX1_uc003zso.3_Frame_Shift_Del_p.E24fs|NFX1_uc003zsp.2_Frame_Shift_Del_p.E24fs|NFX1_uc010mjr.2_Frame_Shift_Del_p.E24fs|NFX1_uc003zsq.3_Frame_Shift_Del_p.E24fs	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	24	Interaction with PABPC1 and PABC4.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E24*(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTCCTCAGGAGAAAAAAAATT	0.363													-	33294465	A	-	33294465	7	5	189	1	0	1	0	1	0	0	0	0	10387	247	9	0	79	0	NFX1	9	33294465	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	173884	33294465	107918966	2398	100255											
AQP7	364	broad.mit.edu	37	chr9	33386157	33386157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcgacgggaccggtcAccatcagctgtccacccgaa	11	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:33386157A>G	uc003zst.2	-	6	615	c.443T>C	c.(442-444)GTG>GCG	p.V148A	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.V91A|AQP7_uc010mjs.2_Missense_Mutation_p.V56A|AQP7_uc010mjt.2_Missense_Mutation_p.V56A|AQP7_uc011lnx.1_Missense_Mutation_p.V148A|AQP7_uc011lny.1_Missense_Mutation_p.V147A|AQP7_uc003zss.3_Missense_Mutation_p.V56A|AQP7_uc011lnz.1_Missense_Mutation_p.V56A|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	148	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGGACCGGTCACCATCAGCTG	0.572													G	33386157	A	G	33386157	3	3	189	1	0	0	0	0	1	0	0	0	831	159	6	3	597	3	AQP7	9	33386157	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	91692	33386157	107827274	2399	100256											
UBAP2	55833	broad.mit.edu	37	chr9	33948577	33948577	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccaaatcctgagccaagGacggatgactttaaaagggg	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:33948577G>A	uc003ztq.1	-	13	1178	c.1065C>T	c.(1063-1065)GTC>GTT	p.V355V	UBAP2_uc011loc.1_Silent_p.V264V|UBAP2_uc011lod.1_Silent_p.V88V|UBAP2_uc011loe.1_Silent_p.V110V|UBAP2_uc011lof.1_Silent_p.V280V|UBAP2_uc011log.1_Silent_p.V301V|UBAP2_uc003ztr.2_Silent_p.V227V|UBAP2_uc003zts.2_5'UTR	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	355										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGAGCCAAGGACGGATGACT	0.413													A	33948577	G	A	33948577	2	1	189	1	0	0	0	0	0	0	0	1	16834	1161	41	4		4	UBAP2	9	33948577	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	562420	33948577	107264854	2400	100257											
C9orf23	138716	broad.mit.edu	37	chr9	34611198	34611198	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcgaattttgctgccAtctcggacccgcatctcaag	10	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:34611198A>G	uc003zuu.2	-	2	377	c.96T>C	c.(94-96)GAT>GAC	p.D32D	C9orf23_uc003zuv.2_Silent_p.D32D	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	hypothetical protein LOC138716	32							nucleic acid binding				0	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)		TTTTGCTGCCATCTCGGACCC	0.607													G	34611198	A	G	34611198	2	3	189	1	0	0	0	0	0	0	0	1	2474	214	8	3		3	C9orf23	9	34611198	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	662621	34611198	106602233	2401	100258											
ARID3C	138715	broad.mit.edu	37	chr9	34622508	34622508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtgccagacaagggTttggaattccactctcctct	10	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:34622508T>C	uc011lon.1	-	5	884	c.884A>G	c.(883-885)AAC>AGC	p.N295S	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	295	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CAGACAAGGGTTTGGAATTCC	0.572													C	34622508	T	C	34622508	3	2	189	1	0	0	0	0	1	0	0	0	918	1725	60	3	365	3	ARID3C	9	34622508	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11310	34622508	106590923	2402	100259											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635783	34635783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggatgacgccccggccgTactccaccatccatgtgttt	10	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:34635783T>C	uc003zvb.2	-	4	592	c.518A>G	c.(517-519)TAC>TGC	p.Y173C	SIGMAR1_uc003zva.3_Missense_Mutation_p.Y153C|SIGMAR1_uc003zuz.2_Missense_Mutation_p.Y84C|SIGMAR1_uc003zvc.2_Missense_Mutation_p.Y142C|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	173	Cytoplasmic (Potential).				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding				0					Dextromethorphan(DB00514)	GCCCCGGCCGTACTCCACCAT	0.612													C	34635783	T	C	34635783	3	2	189	1	0	0	0	0	1	0	0	0	14316	1638	57	3	157	3	SIGMAR1	9	34635783	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	13275	34635783	106577648	2403	100260											
PIGO	84720	broad.mit.edu	37	chr9	35091856	35091856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctaacagggccaccagCgccgccacacaagctccata	9	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35091856C>T	uc003zwd.2	-	7	2424	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Silent_p.A239A	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	676	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGCCACCAGCGCCGCCACAC	0.607													T	35091856	C	T	35091856	2	4	189	1	0	0	0	0	0	0	0	1	11894	755	27	1		1	PIGO	9	35091856	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	456073	35091856	106121575	2404	100261											
STOML2	30968	broad.mit.edu	37	chr9	35100102	35100102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggacatctctgctgctcCcactggagagtgagtctgga	12	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35100102C>A	uc003zwi.2	-	10	1064	c.1001G>T	c.(1000-1002)GGG>GTG	p.G334V	STOML2_uc003zwh.2_Missense_Mutation_p.G225V|STOML2_uc003zwj.2_Missense_Mutation_p.G225V|STOML2_uc011lou.1_Missense_Mutation_p.G289V|STOML2_uc003zwk.2_Missense_Mutation_p.G283V	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	334						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGCTGCTCCCACTGGAGAG	0.547													A	35100102	C	A	35100102	3	1	189	1	0	0	0	0	1	0	0	0	15313	623	22	5	73	5	STOML2	9	35100102	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8246	35100102	106113329	2405	100262											
UNC13B	10497	broad.mit.edu	37	chr9	35378381	35378381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaaactaagaagcgtAccaagaccatttttggaaac	7	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35378381A>G	uc003zwq.2	+	16	2198	c.1906A>G	c.(1906-1908)ACC>GCC	p.T636A	UNC13B_uc003zwr.2_Missense_Mutation_p.T636A	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	636	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TAAGAAGCGTACCAAGACCAT	0.483													G	35378381	A	G	35378381	3	3	189	1	0	0	0	0	1	0	0	0	16982	391	14	3	1968	3	UNC13B	9	35378381	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	278279	35378381	105835050	2406	100263											
UNC13B	10497	broad.mit.edu	37	chr9	35403993	35403993	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagaatttgtgaaacTcaaatcagagtctcgttcca	9	10	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35403993T>A	uc003zwq.2	+	39	5031	c.4739T>A	c.(4738-4740)CTC>CAC	p.L1580H	UNC13B_uc003zwr.2_Missense_Mutation_p.L1599H|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1580					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTTGTGAAACTCAAATCAGAG	0.527													A	35403993	T	A	35403993	3	1	189	1	0	0	0	0	1	0	0	0	16982	1551	54	5	4893	5	UNC13B	9	35403993	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	25612	35403993	105809438	2407	100264											
RUSC2	9853	broad.mit.edu	37	chr9	35547398	35547398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacaacaagatgcatggcAccccccgtgccaatctcaac	6	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35547398A>G	uc003zww.2	+	2	1135	c.880A>G	c.(880-882)ACC>GCC	p.T294A	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.T294A	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	294						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GATGCATGGCACCCCCCGTGC	0.587													G	35547398	A	G	35547398	3	3	189	1	0	0	0	0	1	0	0	0	13751	159	6	3	882	3	RUSC2	9	35547398	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	143405	35547398	105666033	2408	100265											
TESK1	7016	broad.mit.edu	37	chr9	35609379	35609379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcctcccaaccctggtcCcctagatcaggacccgtcct	8	19	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35609379C>T	uc003zxa.2	+	10	1857	c.1521C>T	c.(1519-1521)TCC>TCT	p.S507S	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.S347S	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	507					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACCCTGGTCCCCTAGATCAG	0.652													T	35609379	C	T	35609379	2	4	189	1	0	0	0	0	0	0	0	1	15764	610	22	4		4	TESK1	9	35609379	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61981	35609379	105604052	2409	100266											
TLN1	7094	broad.mit.edu	37	chr9	35707150	35707150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaccagctcggggggtccCggggattgactgcgagggcc	18	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35707150C>T	uc003zxt.2	-	37	5228	c.4874G>A	c.(4873-4875)CGG>CAG	p.R1625Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1625	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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGGGGGTCCCGGGGATTGAC	0.602													T	35707150	C	T	35707150	3	4	189	1	0	0	0	0	1	0	0	0	15944	652	23	1	2835	1	TLN1	9	35707150	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	97771	35707150	105506281	2410	100267											
TMEM8B	51754	broad.mit.edu	37	chr9	35852855	35852855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaccagccaggcatcgTggttttctgcatcatggact	11	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:35852855T>C	uc003zym.2	+	12	1866	c.851T>C	c.(850-852)GTG>GCG	p.V284A	TMEM8B_uc003zyo.2_Missense_Mutation_p.V284A	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	284	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						CCAGGCATCGTGGTTTTCTGC	0.502													C	35852855	T	C	35852855	3	2	189	1	0	0	0	0	1	0	0	0	16212	1696	59	3	1071	3	TMEM8B	9	35852855	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	145705	35852855	105360576	2411	100268											
MELK	9833	broad.mit.edu	37	chr9	36643018	36643018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctcgatgatgattgcGtaacagaactttctgtacat	7	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:36643018G>A	uc003zzn.2	+	11	997	c.859G>A	c.(859-861)GTA>ATA	p.V287I	MELK_uc011lpm.1_Missense_Mutation_p.V156I|MELK_uc011lpn.1_Missense_Mutation_p.V287I|MELK_uc011lpo.1_Missense_Mutation_p.V93I|MELK_uc010mll.2_Missense_Mutation_p.V255I|MELK_uc011lpp.1_Missense_Mutation_p.V239I|MELK_uc010mlm.2_Missense_Mutation_p.V216I|MELK_uc011lpq.1_Missense_Mutation_p.V93I|MELK_uc011lpr.1_Missense_Mutation_p.V216I|MELK_uc011lps.1_Missense_Mutation_p.V207I	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	287						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGATGATTGCGTAACAGAACT	0.259													A	36643018	G	A	36643018	3	1	189	1	0	0	0	0	1	0	0	0	9470	1145	40	1	897	1	MELK	9	36643018	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	790163	36643018	104570413	2412	100269											
FBXO10	26267	broad.mit.edu	37	chr9	37541449	37541449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacactcagggtacgtcgtTccctcctccggcggaataga	10	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:37541449T>C	uc004aab.2	-	2	366	c.317A>G	c.(316-318)GAA>GGA	p.E106G	FBXO10_uc004aac.2_Missense_Mutation_p.E122G|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	106						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		GGTACGTCGTTCCCTCCTCCG	0.552													C	37541449	T	C	37541449	3	2	189	1	0	0	0	0	1	0	0	0	5726	1783	62	3	2593	3	FBXO10	9	37541449	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	898431	37541449	103671982	2413	100270											
FRMPD1	22844	broad.mit.edu	37	chr9	37745884	37745884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcaaaagtgacagctcTagcatctgcctttctgctga	10	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:37745884T>C	uc004aag.1	+	16	3899	c.3855T>C	c.(3853-3855)TCT>TCC	p.S1285S	FRMPD1_uc004aah.1_Silent_p.S1285S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1285						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GTGACAGCTCTAGCATCTGCC	0.493													C	37745884	T	C	37745884	2	2	189	1	0	0	0	0	0	0	0	1	6057	1509	53	3		3	FRMPD1	9	37745884	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	204435	37745884	103467547	2414	100271											
RG9MTD3	158234	broad.mit.edu	37	chr9	37768227	37768227	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggattttctagttacctggTaagtctctttttgcatatta	7	6	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:37768227T>C	uc004aai.2	+	5	650	c.573_splice	c.e5+2	p.L191_splice	RG9MTD3_uc011lqo.1_Intron|RG9MTD3_uc011lqp.1_Splice_Site_p.L113_splice|RG9MTD3_uc011lqq.1_Splice_Site_p.L80_splice|RG9MTD3_uc004aaj.2_Splice_Site|RG9MTD3_uc004aak.2_Splice_Site_p.L96_splice	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain								methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		AGTTACCTGGTAAGTCTCTTT	0.333													C	37768227	T	C	37768227	5	2	189	1	0	0	0	0	0	0	1	0	13273	1652	57	3	589	3	RG9MTD3	9	37768227	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22343	37768227	103445204	2415	100272											
ALDH1B1	219	broad.mit.edu	37	chr9	38397185	38397185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcgtcacctgccacacGccatttggagggtttaagga	10	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:38397185G>A	uc004aay.2	+	2	1552	c.1440G>A	c.(1438-1440)ACG>ACA	p.T480T		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	480					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCTGCCACACGCCATTTGGAG	0.562													A	38397185	G	A	38397185	2	1	189	1	0	0	0	0	0	0	0	1	493	1074	38	1		1	ALDH1B1	9	38397185	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	628958	38397185	102816246	2416	100273											
PRKACG	5568	broad.mit.edu	37	chr9	71628684	71628684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgtccttaaaggagaActggagcttgacgaggaacg	15	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:71628684A>G	uc004agy.2	-	1	356	c.325T>C	c.(325-327)TTC>CTC	p.F109L		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	109	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			ovary(1)|pancreas(1)|skin(1)	3						TTAAAGGAGAACTGGAGCTTG	0.557													G	71628684	A	G	71628684	3	3	189	1	0	0	0	0	1	0	0	0	12499	43	2	3	734	3	PRKACG	9	71628684	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	33231499	71628684	69584747	2417	100274											
PRKACG	5568	broad.mit.edu	37	chr9	71628958	71628958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctttggctaggaactcGttcacgctctcctcctgctc	9	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:71628958G>A	uc004agy.2	-	1	82	c.51C>T	c.(49-51)AAC>AAT	p.N17N		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	17					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			ovary(1)|pancreas(1)|skin(1)	3						CTAGGAACTCGTTCACGCTCT	0.448													A	71628958	G	A	71628958	2	1	189	1	0	0	0	0	0	0	0	1	12499	1136	40	1		1	PRKACG	9	71628958	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	274	71628958	69584473	2418	100275											
C9orf135	138255	broad.mit.edu	37	chr9	72501762	72501762	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatccctcttaggtgtgcatTgacaacgtactcagaagatt	8	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:72501762T>A	uc004ahl.2	+	5	523	c.458T>A	c.(457-459)TTG>TAG	p.L153*	C9orf135_uc011lrw.1_Nonsense_Mutation_p.L45*|C9orf135_uc010moq.2_Nonsense_Mutation_p.L45*|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Intron	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	153	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						AGGTGTGCATTGACAACGTAC	0.323													A	72501762	T	A	72501762	4	1	189	1	0	0	0	0	0	1	0	0	2458	1821	63	5	476	5	C9orf135	9	72501762	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	872804	72501762	68711669	2419	100276											
TRPM3	80036	broad.mit.edu	37	chr9	73151634	73151634	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgctccggcttggaggTctgtctgtgggtgcaagtgt	15	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:73151634T>C	uc004aid.2	-	25	4603	c.4359A>G	c.(4357-4359)AGA>AGG	p.R1453R	TRPM3_uc004ahu.2_Silent_p.R1295R|TRPM3_uc004ahv.2_Silent_p.R1255R|TRPM3_uc004ahw.2_Silent_p.R1325R|TRPM3_uc004ahx.2_Silent_p.R1312R|TRPM3_uc004ahy.2_Silent_p.R1315R|TRPM3_uc004ahz.2_Silent_p.R1302R|TRPM3_uc004aia.2_Silent_p.R1300R|TRPM3_uc004aib.2_Silent_p.R1290R|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1478	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGCTTGGAGGTCTGTCTGTGG	0.527													C	73151634	T	C	73151634	2	2	189	1	0	0	0	0	0	0	0	1	16584	1664	58	3		3	TRPM3	9	73151634	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	649872	73151634	68061797	2420	100277											
TRPM3	80036	broad.mit.edu	37	chr9	73213424	73213424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccagtaaatgatgttcaCgcagtagatgaccctcccgt	8	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:73213424C>T	uc004aid.2	-	20	3167	c.2923G>A	c.(2923-2925)GTG>ATG	p.V975M	TRPM3_uc004ahu.2_Missense_Mutation_p.V805M|TRPM3_uc004ahv.2_Missense_Mutation_p.V777M|TRPM3_uc004ahw.2_Missense_Mutation_p.V847M|TRPM3_uc004ahx.2_Missense_Mutation_p.V834M|TRPM3_uc004ahy.2_Missense_Mutation_p.V837M|TRPM3_uc004ahz.2_Missense_Mutation_p.V824M|TRPM3_uc004aia.2_Missense_Mutation_p.V822M|TRPM3_uc004aib.2_Missense_Mutation_p.V812M|TRPM3_uc004aic.2_Missense_Mutation_p.V975M	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1000	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						ATGATGTTCACGCAGTAGATG	0.483													T	73213424	C	T	73213424	3	4	189	1	0	0	0	0	1	0	0	0	16584	536	19	1	2224	1	TRPM3	9	73213424	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61790	73213424	68000007	2421	100278											
ALDH1A1	216	broad.mit.edu	37	chr9	75524662	75524662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacttcatgatttgctgcActggtccaaaaatctatacc	5	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:75524662A>G	uc004ajd.2	-	11	1267	c.1214T>C	c.(1213-1215)GTG>GCG	p.V405A	ALDH1A1_uc011lsh.1_Missense_Mutation_p.V326A|ALDH1A1_uc011lsg.1_Missense_Mutation_p.V231A	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	405					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GATTTGCTGCACTGGTCCAAA	0.294													G	75524662	A	G	75524662	3	3	189	1	0	0	0	0	1	0	0	0	490	159	6	3	303	3	ALDH1A1	9	75524662	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2311238	75524662	65688769	2422	100279											
RORB	6096	broad.mit.edu	37	chr9	77257488	77257488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattagcaacggcctgagcAacctgaacaacgagaccagc	10	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:77257488A>G	uc004aji.2	+	4	476	c.427A>G	c.(427-429)AAC>GAC	p.N143D	RORB_uc004ajh.2_Missense_Mutation_p.N132D	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	143	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CGGCCTGAGCAACCTGAACAA	0.468													G	77257488	A	G	77257488	3	3	189	1	0	0	0	0	1	0	0	0	13529	130	5	3	408	3	RORB	9	77257488	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1732826	77257488	63955943	2423	100280											
TRPM6	140803	broad.mit.edu	37	chr9	77435270	77435270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttggaaaaggtgcttggActgtttaagactaaagttga	11	3	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:77435270A>G	uc004ajl.1	-	9	1322	c.1084T>C	c.(1084-1086)TCC>CCC	p.S362P	TRPM6_uc004ajk.1_Missense_Mutation_p.S357P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.S362P|TRPM6_uc010mpd.1_Missense_Mutation_p.S362P|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	362	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AGGTGCTTGGACTGTTTAAGA	0.393													G	77435270	A	G	77435270	3	3	189	1	0	0	0	0	1	0	0	0	16587	275	10	3	5108	3	TRPM6	9	77435270	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	177782	77435270	63778161	2424	100281											
OSTF1	26578	broad.mit.edu	37	chr9	77755814	77755814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatggctaccaatgctgcCtgtgcatctctcctgaaaaa	8	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:77755814C>T	uc004ajv.3	+	9	763	c.552C>T	c.(550-552)GCC>GCT	p.A184A	OSTF1_uc004ajw.3_Silent_p.A141A|OSTF1_uc004ajx.3_Silent_p.A187A	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	184					ossification|signal transduction	cytoplasm	identical protein binding			skin(1)	1						CCAATGCTGCCTGTGCATCTC	0.403													T	77755814	C	T	77755814	2	4	189	1	0	0	0	0	0	0	0	1	11297	668	24	4		4	OSTF1	9	77755814	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	320544	77755814	63457617	2425	100282											
PCSK5	5125	broad.mit.edu	37	chr9	78749046	78749046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttctgacctggagagaCgtacagcatgttattgtcag	11	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:78749046C>T	uc004ajz.2	+	10	1768	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	PCSK5_uc004ajy.2_Silent_p.D410D|PCSK5_uc004aka.2_Intron	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	410	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			ovary(2)|skin(1)	3						CCTGGAGAGACGTACAGCATG	0.423													T	78749046	C	T	78749046	2	4	189	1	0	0	0	0	0	0	0	1	11603	535	19	1		1	PCSK5	9	78749046	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	993232	78749046	62464385	2426	100283											
PRUNE2	158471	broad.mit.edu	37	chr9	79321580	79321580	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatatcaccctgaactggTactccccagggactggcatt	8	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:79321580T>C	uc010mpk.2	-	8	5734	c.5610A>G	c.(5608-5610)GTA>GTG	p.V1870V	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1870					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CCTGAACTGGTACTCCCCAGG	0.458													C	79321580	T	C	79321580	2	2	189	1	0	0	0	0	0	0	0	1	12641	1625	57	3		3	PRUNE2	9	79321580	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	572534	79321580	61891851	2427	100284											
FOXB2	442425	broad.mit.edu	37	chr9	79634951	79634951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaagcaccaagagcgcGccgggcgccggtccgggagg	20	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:79634951G>A	uc004ako.1	+	1	381	c.381G>A	c.(379-381)GCG>GCA	p.A127A		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	127					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				0						CCAAGAGCGCGCCGGGCGCCG	0.433													A	79634951	G	A	79634951	2	1	189	1	0	0	0	0	0	0	0	1	5993	1074	38	1		1	FOXB2	9	79634951	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	313371	79634951	61578480	2428	100285											
VPS13A	23230	broad.mit.edu	37	chr9	79840849	79840849	+	Frame_Shift_Del	DEL	A	A	-													ttatatttttcaggagttggAaaaaaccttggatgtcttta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:79840848_79840848GA>G	uc004akr.3	+	13	1428	c.1168_1168GA>G	c.(1168-1170)gaafs	p.E390fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.E390fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.E390fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.E390fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	390					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						TCAGGAGTTGGAAAAAACCTT	0.284													-	79840849	A	-	79840849	7	5	189	1	0	1	0	1	0	0	0	0	17186	246	9	0	1223	0	VPS13A	9	79840849	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	205898	79840849	61372582	2429	100286											
VPS13A	23230	broad.mit.edu	37	chr9	79936099	79936099	+	Frame_Shift_Del	DEL	A	A	-													ttttagatgaaaaagaaagcAaaaatggccattgttgagtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:79936098_79936098CA>C	uc004akr.3	+	42	5689	c.5429_5429CA>C	c.(5428-5430)gcafs	p.A1810fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.A1810fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.A1810fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.A1771fs|VPS13A_uc004akt.3_Frame_Shift_Del_p.A150fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1810					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						AAAAAGAAAGCAAAAATGGCC	0.303													-	79936099	A	-	79936099	7	5	189	1	0	1	0	1	0	0	0	0	17186	117	5	0	5600	0	VPS13A	9	79936099	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	95250	79936099	61277332	2430	100287											
VPS13A	23230	broad.mit.edu	37	chr9	79952387	79952387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggatttaccatacatAatgcatttgtggccacctat	9	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:79952387A>G	uc004akr.2	+	47	6572	c.6312A>G	c.(6310-6312)ATA>ATG	p.I2104M	VPS13A_uc004akp.3_Missense_Mutation_p.I2104M|VPS13A_uc004akq.3_Missense_Mutation_p.I2104M|VPS13A_uc004aks.2_Missense_Mutation_p.I2065M|VPS13A_uc004akt.2_Missense_Mutation_p.I444M	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2104					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TACCATACATAATGCATTTGT	0.348													G	79952387	A	G	79952387	3	3	189	1	0	0	0	0	1	0	0	0	17186	352	13	3	6498	3	VPS13A	9	79952387	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	16288	79952387	61261044	2431	100288											
FRMD3	257019	broad.mit.edu	37	chr9	85925432	85925432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaatcacataaaatgtctTcccttcaaacttcaatttgc	3	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:85925432T>G	uc004ams.1	-	9	1007	c.805A>C	c.(805-807)AAG>CAG	p.K269Q	FRMD3_uc004amr.1_Missense_Mutation_p.K255Q	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	269	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						TAAAATGTCTTCCCTTCAAAC	0.398													G	85925432	T	G	85925432	3	3	189	1	0	0	0	0	1	0	0	0	6050	1792	62	5	1012	5	FRMD3	9	85925432	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5973045	85925432	55287999	2432	100289											
UBQLN1	29979	broad.mit.edu	37	chr9	86292640	86292640	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagttgttaaaagcatAcctcctactccaggcaccaa	7	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:86292640A>G	uc004amv.2	-	6	1679	c.1105_splice	c.e6+1	p.A369_splice	UBQLN1_uc004amw.2_Splice_Site_p.A369_splice	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1						apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						TTAAAAGCATACCTCCTACTC	0.433													G	86292640	A	G	86292640	5	3	189	1	0	0	0	0	0	0	1	0	16893	405	14	3	686	3	UBQLN1	9	86292640	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	367208	86292640	54920791	2433	100290											
GKAP1	80318	broad.mit.edu	37	chr9	86357453	86357453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttccttacctgaatagTgagctcattcttgatacttt	6	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:86357453T>C	uc004amy.2	-	11	1463	c.967A>G	c.(967-969)ACT>GCT	p.T323A	GKAP1_uc004amz.2_Missense_Mutation_p.T272A	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1 isoform a	323	Potential.				signal transduction	Golgi apparatus					0						ACCTGAATAGTGAGCTCATTC	0.348													C	86357453	T	C	86357453	3	2	189	1	0	0	0	0	1	0	0	0	6423	1696	59	3	145	3	GKAP1	9	86357453	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	64813	86357453	54855978	2434	100291											
AGTPBP1	23287	broad.mit.edu	37	chr9	88236136	88236136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggttatccaagtcatAtaccacacgatctatgatat	6	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:88236136A>G	uc011ltd.1	-	14	2113	c.2080T>C	c.(2080-2082)TAT>CAT	p.Y694H	AGTPBP1_uc004aod.3_Missense_Mutation_p.Y320H|AGTPBP1_uc011ltc.1_Missense_Mutation_p.Y592H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.Y654H|AGTPBP1_uc011lte.1_Missense_Mutation_p.Y706H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	694					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			ovary(4)|large_intestine(2)|skin(1)	7						TCCAAGTCATATACCACACGA	0.239													G	88236136	A	G	88236136	3	3	189	1	0	0	0	0	1	0	0	0	400	449	16	3	1648	3	AGTPBP1	9	88236136	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1878683	88236136	52977295	2435	100292											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967954	88967954	+	Frame_Shift_Del	DEL	T	T	-													agttccctggtgttatcttcTttttttgaaggcccttttcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:88967953_88967953CT>C	uc004aou.3	-	1	300	c.162_162AG>G	c.(160-162)aagfs	p.K54fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aot.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc004aow.3_Frame_Shift_Del_p.K54fs|ZCCHC6_uc010mqf.2_Frame_Shift_Del_p.K54fs	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	54					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|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						GTGTTATCTTCTTTTTTTGAA	0.418													-	88967954	T	-	88967954	7	5	189	1	0	1	0	1	0	0	0	0	17589	1609	56	0	4430	0	ZCCHC6	9	88967954	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	731818	88967954	52245477	2436	100293											
ROR2	4920	broad.mit.edu	37	chr9	94493292	94493292	+	Frame_Shift_Del	DEL	C	C	-													gggttccggcagtaggcgtgCccccctccaagctcagggaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:94493291_94493291GC>G	uc004arj.2	-	6	1283	c.1084_1084GC>C	c.(1084-1086)cacfs	p.H362fs	ROR2_uc004ari.1_Frame_Shift_Del_p.H222fs|ROR2_uc004ark.3_Frame_Shift_Del_p.H362fs	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	362	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.G361A(1)		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						CAGTAGGCGTGCCCCCCTCCA	0.627													-	94493292	C	-	94493292	7	5	189	1	0	1	0	1	0	0	0	0	13527	726	26	0	1760	0	ROR2	9	94493292	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	5525338	94493292	46720139	2437	100294											
IARS	3376	broad.mit.edu	37	chr9	95050089	95050089	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataccttccactcagcagaaTatctcatcacaattgctcgg	5	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:95050089T>A	uc004art.1	-	4	637	c.380A>T	c.(379-381)TAT>TTT	p.Y127F	IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.Y127F|IARS_uc010mqr.2_Missense_Mutation_p.Y17F|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	127					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CTCAGCAGAATATCTCATCAC	0.398													A	95050089	T	A	95050089	3	1	189	1	0	0	0	0	1	0	0	0	7473	1406	49	5	3532	5	IARS	9	95050089	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	556797	95050089	46163342	2438	100295											
OGN	4969	broad.mit.edu	37	chr9	95165630	95165630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctgctgggttggtggTgctggctttatcagaggcac	16	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:95165630T>C	uc004asa.2	-	2	295	c.60A>G	c.(58-60)GCA>GCG	p.A20A	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Silent_p.A20A|OGN_uc011ltx.1_Silent_p.A38A	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein	20						extracellular space|proteinaceous extracellular matrix	growth factor activity				0						GGGTTGGTGGTGCTGGCTTTA	0.393													C	95165630	T	C	95165630	2	2	189	1	0	0	0	0	0	0	0	1	10846	1683	59	3		3	OGN	9	95165630	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	115541	95165630	46047801	2439	100296											
IPPK	64768	broad.mit.edu	37	chr9	95378327	95378327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatgaagggacgacaggCctttgatcagagctgcaagt	13	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:95378327C>T	uc004asl.1	-	13	1540	c.1263G>A	c.(1261-1263)AGG>AGA	p.R421R	IPPK_uc004ask.1_Silent_p.R120R|uc004asm.2_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	421					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						GGACGACAGGCCTTTGATCAG	0.498													T	95378327	C	T	95378327	2	4	189	1	0	0	0	0	0	0	0	1	7801	738	26	2		2	IPPK	9	95378327	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	212697	95378327	45835104	2440	100297											
IPPK	64768	broad.mit.edu	37	chr9	95432206	95432206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgcgcgtgggccaccAccaggctcttattgccctct	9	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:95432206A>G	uc004asl.1	-	1	342	c.65T>C	c.(64-66)GTG>GCG	p.V22A		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	22					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						GTGGGCCACCACCAGGCTCTT	0.657													G	95432206	A	G	95432206	3	3	189	1	0	0	0	0	1	0	0	0	7801	159	6	3	1462	3	IPPK	9	95432206	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	53879	95432206	45781225	2441	100298											
WNK2	65268	broad.mit.edu	37	chr9	95947742	95947742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgagcccgaagaggaggaGgacgacgaggacgacctcaa	16	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:95947742G>C	uc004ati.1	+	1	531	c.531G>C	c.(529-531)GAG>GAC	p.E177D	WNK2_uc011lud.1_Missense_Mutation_p.E177D|WNK2_uc004atj.2_Missense_Mutation_p.E177D|WNK2_uc010mrc.1_Missense_Mutation_p.E177D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	177					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						AAGAGGAGGAGGACGACGAGG	0.692													C	95947742	G	C	95947742	3	2	189	1	0	0	0	0	1	0	0	0	17375	991	35	5	533	5	WNK2	9	95947742	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	515536	95947742	45265689	2442	100299											
WNK2	65268	broad.mit.edu	37	chr9	95947835	95947835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcggttccttcaagacGgtctacaaggggctggacac	14	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:95947835G>A	uc004ati.1	+	1	624	c.624G>A	c.(622-624)ACG>ACA	p.T208T	WNK2_uc011lud.1_Silent_p.T208T|WNK2_uc004atj.2_Silent_p.T208T|WNK2_uc010mrc.1_Silent_p.T208T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	208	ATP (By similarity).|Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCTTCAAGACGGTCTACAAGG	0.662													A	95947835	G	A	95947835	2	1	189	1	0	0	0	0	0	0	0	1	17375	1103	39	1		1	WNK2	9	95947835	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	93	95947835	45265596	2443	100300											
FAM120A	23196	broad.mit.edu	37	chr9	96323469	96323469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgggctgggagcaggcGgggccgtgggggccgggggc	24	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:96323469G>A	uc004atw.2	+	16	2910	c.2885G>A	c.(2884-2886)CGG>CAG	p.R962Q	FAM120A_uc004aty.2_Missense_Mutation_p.R743Q|FAM120A_uc004atz.2_Missense_Mutation_p.R610Q|FAM120A_uc010mrg.2_Missense_Mutation_p.R229Q|FAM120A_uc004aua.1_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	962	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						GGGAGCAGGCGGGGCCGTGGG	0.527													A	96323469	G	A	96323469	3	1	189	1	0	0	0	0	1	0	0	0	5415	1116	39	1	2947	1	FAM120A	9	96323469	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	375634	96323469	44889962	2444	100301											
PTPDC1	138639	broad.mit.edu	37	chr9	96847621	96847621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatggcatgttccatggcGtgtggcggtagagcttgcaa	14	9	0	1	rs149606330	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:96847621G>A	uc004auf.1	+	3	511	c.171G>A	c.(169-171)GCG>GCA	p.A57A	PTPDC1_uc004aug.1_Silent_p.A57A|PTPDC1_uc004auh.1_Silent_p.A109A|PTPDC1_uc010mrj.1_Silent_p.A111A|PTPDC1_uc010mri.1_Silent_p.A109A	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	57							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						GTTCCATGGCGTGTGGCGGTA	0.498													A	96847621	G	A	96847621	2	1	189	1	0	0	0	0	0	0	0	1	12773	1132	40	1		1	PTPDC1	9	96847621	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	524152	96847621	44365810	2445	100302											
FANCC	2176	broad.mit.edu	37	chr9	97887409	97887409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttctacaaagcactgcgTaaacacctgaatagtggcta	8	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:97887409T>C	uc004avh.2	-	10	1217	c.955A>G	c.(955-957)ACG>GCG	p.T319A	FANCC_uc004avi.3_Missense_Mutation_p.T319A|uc004avj.2_5'Flank	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	319					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				AAGCACTGCGTAAACACCTGA	0.428			D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	97887409	T	C	97887409	3	2	189	1	0	0	0	0	1	0	0	0	5664	1638	57	3	745	3	FANCC	9	97887409	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1039788	97887409	43326022	2446	100303											
PTCH1	5727	broad.mit.edu	37	chr9	98231280	98231280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacgtgcgtgtgggggtcgTactccgtgcggagctggaca	17	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:98231280T>C	uc004avk.3	-	14	2191	c.2003A>G	c.(2002-2004)TAC>TGC	p.Y668C	PTCH1_uc010mro.2_Missense_Mutation_p.Y517C|PTCH1_uc010mrp.2_Missense_Mutation_p.Y517C|PTCH1_uc010mrq.2_Missense_Mutation_p.Y517C|PTCH1_uc004avl.3_Missense_Mutation_p.Y517C|PTCH1_uc010mrr.2_Missense_Mutation_p.Y602C|PTCH1_uc004avm.3_Missense_Mutation_p.Y667C|PTCH1_uc010mrs.1_Missense_Mutation_p.Y336C	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	668	Cytoplasmic (Potential).				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.Y668Y(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGGGGGTCGTACTCCGTGCG	0.622									Basal_Cell_Nevus_syndrome				C	98231280	T	C	98231280	3	2	189	1	0	0	0	0	1	0	0	0	12730	1638	57	3	2380	3	PTCH1	9	98231280	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	343871	98231280	42982151	2447	100304											
C9orf102	375748	broad.mit.edu	37	chr9	98683534	98683534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaggacgtgactttgatActtcaatcttctgagccttg	9	9	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:98683534A>G	uc004avt.3	+	7	1657	c.1269A>G	c.(1267-1269)ATA>ATG	p.I423M	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.I125M|C9orf102_uc010mry.1_Missense_Mutation_p.I125M|C9orf102_uc010mrz.2_Missense_Mutation_p.I234M|C9orf102_uc004avu.2_5'Flank	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	423					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TGACTTTGATACTTCAATCTT	0.358													G	98683534	A	G	98683534	3	3	189	1	0	0	0	0	1	0	0	0	2445	381	14	3	1295	3	C9orf102	9	98683534	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	452254	98683534	42529897	2448	100305											
C9orf102	375748	broad.mit.edu	37	chr9	98740497	98740497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttgcagttctaaGgtaagaaaaatatagggtag	11	3	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:98740497G>T	uc004avu.2	+	12	2610	c.1365G>T	c.(1363-1365)AAG>AAT	p.K455N	uc010msa.1_Missense_Mutation_p.K145N|uc011lun.1_Missense_Mutation_p.K145N			Q5T890	RAD26_HUMAN	Homo sapiens cDNA, FLJ97452.	Error:Variant_position_missing_in_Q5T890_after_alignment					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				GCAGTTCTAAGGTAAGAAAAA	0.393													T	98740497	G	T	98740497	3	4	189	1	0	0	0	0	1	0	0	0	2445	1015	35	5		5	C9orf102	9	98740497	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	56963	98740497	42472934	2449	100306											
KIAA1529	57653	broad.mit.edu	37	chr9	100120005	100120005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagtccaggggagagaaaAccgtaagtgttcaatagatt	12	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:100120005A>G	uc011lut.1	+	37	4683	c.3910A>G	c.(3910-3912)ACC>GCC	p.T1304A	KIAA1529_uc004axe.1_Missense_Mutation_p.T1136A|KIAA1529_uc004axg.1_Missense_Mutation_p.T1165A|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.T321A	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GGGAGAGAAAACCGTAAGTGT	0.343													G	100120005	A	G	100120005	3	3	189	1	0	0	0	0	1	0	0	0	8240	43	2	3	3504	3	KIAA1529	9	100120005	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1379508	100120005	41093426	2450	100307											
TMOD1	7111	broad.mit.edu	37	chr9	100353622	100353623	+	Frame_Shift_Ins	INS	-	-	A													gagattgtgagcatgttggaINSaaaaaacgcaacacttctca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:100353621_100353622G>GA	uc004axl.2	+	8	1055_1056	c.919_920G>GA	c.(919-921)gaafs	p.E307fs	TMOD1_uc004axk.2_Frame_Shift_Ins_p.E307fs	NM_001166116	NP_003266	P28289	TMOD1_HUMAN	Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.	307					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)		GAGCATGTTGGAAAAAAACGCA	0.426													A	100353623	-	A	100353622	7	5	189	1	0	1	1	0	0	0	0	0	16230	246	9	0	950	0	TMOD1	9	100353622	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	233617	100353622	40859809	2451	100308											
TBC1D2	55357	broad.mit.edu	37	chr9	100983263	100983263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttggcgtggttcttgTccataagcagctgcacgtgc	13	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:100983263T>C	uc011lvb.1	-	6	1406	c.1226A>G	c.(1225-1227)GAC>GGC	p.D409G	TBC1D2_uc004ayq.2_Missense_Mutation_p.D409G|TBC1D2_uc004ayr.2_Missense_Mutation_p.D191G|TBC1D2_uc004ayo.3_Missense_Mutation_p.D409G	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	409	Potential.|Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTGGTTCTTGTCCATAAGCAG	0.642													C	100983263	T	C	100983263	3	2	189	1	0	0	0	0	1	0	0	0	15605	1667	58	3	1559	3	TBC1D2	9	100983263	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	629641	100983263	40230168	2452	100309											
COL15A1	1306	broad.mit.edu	37	chr9	101748054	101748054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcccagcagcacccGtggtggcgtgctcttcgcca	14	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:101748054G>A	uc004azb.1	+	3	514	c.308G>A	c.(307-309)CGT>CAT	p.R103H	COL15A1_uc004aza.2_Missense_Mutation_p.R103H	NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	103	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AGCAGCACCCGTGGTGGCGTG	0.637													A	101748054	G	A	101748054	3	1	189	1	0	0	0	0	1	0	0	0	3672	1145	40	1	318	1	COL15A1	9	101748054	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	764791	101748054	39465377	2453	100310											
INVS	27130	broad.mit.edu	37	chr9	103035332	103035332	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctcctcatgaagcatgaAcagttgagaaaagatgctgc	9	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:103035332A>G	uc004bap.1	+	12	1970	c.1758A>G	c.(1756-1758)GAA>GAG	p.E586E	INVS_uc010mta.1_Silent_p.E490E|INVS_uc011lve.1_Silent_p.E490E|INVS_uc004bao.1_Silent_p.E586E|INVS_uc004baq.1_Silent_p.E490E|INVS_uc004bar.1_Silent_p.E490E|INVS_uc010mtb.1_Silent_p.E260E	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	586					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TGAAGCATGAACAGTTGAGAA	0.502													G	103035332	A	G	103035332	2	3	189	1	0	0	0	0	0	0	0	1	7787	40	2	3		3	INVS	9	103035332	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1287278	103035332	38178099	2454	100311											
C9orf30	91283	broad.mit.edu	37	chr9	103213194	103213194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaactacaaactttTaccaaggaatggcctgtttc	7	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:103213194T>C	uc004baw.2	+	3	841	c.774T>C	c.(772-774)TTT>TTC	p.F258F	TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.2_RNA	NM_080655	NP_542386	Q96H12	CI030_HUMAN	hypothetical protein LOC91283	258										ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)				TACAAACTTTTACCAAGGAAT	0.418													C	103213194	T	C	103213194	2	2	189	1	0	0	0	0	0	0	0	1	2478	1751	61	3		3	C9orf30	9	103213194	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	177862	103213194	38000237	2455	100312											
ABCA1	19	broad.mit.edu	37	chr9	107594877	107594877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaagcgagatatggtcCggattgcctggttagtctcg	13	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:107594877C>T	uc004bcl.2	-	12	1800	c.1487G>A	c.(1486-1488)CGG>CAG	p.R496Q		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	496	Extracellular.		R -> W (associated with increased plasma HDL cholesterol).		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			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATATGGTCCGGATTGCCTG	0.478													T	107594877	C	T	107594877	3	4	189	1	0	0	0	0	1	0	0	0	28	652	23	1	5454	1	ABCA1	9	107594877	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4381683	107594877	33618554	2456	100313											
SLC44A1	23446	broad.mit.edu	37	chr9	108118594	108118594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgacaatagtgtctTacacaggctgattagtggag	12	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:108118594T>C	uc004bcn.2	+	6	823	c.602T>C	c.(601-603)TTA>TCA	p.L201S	SLC44A1_uc010mtk.1_Missense_Mutation_p.L201S|SLC44A1_uc004bco.1_5'UTR	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	201	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	AATAGTGTCTTACACAGGCTG	0.408													C	108118594	T	C	108118594	3	2	189	1	0	0	0	0	1	0	0	0	14635	1764	61	3	624	3	SLC44A1	9	108118594	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	523717	108118594	33094837	2457	100314											
SLC44A1	23446	broad.mit.edu	37	chr9	108118607	108118607	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcttacacaggctgatTagtggagtaatgaccagcaa	11	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:108118607T>C	uc004bcn.2	+	6	836	c.615T>C	c.(613-615)ATT>ATC	p.I205I	SLC44A1_uc010mtk.1_Silent_p.I205I|SLC44A1_uc004bco.1_5'UTR	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	205	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	ACAGGCTGATTAGTGGAGTAA	0.403													C	108118607	T	C	108118607	2	2	189	1	0	0	0	0	0	0	0	1	14635	1742	61	3		3	SLC44A1	9	108118607	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	13	108118607	33094824	2458	100315											
TMEM38B	55151	broad.mit.edu	37	chr9	108536265	108536265	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagaagaaaagtgaagcAaagtcaccttccaatggcgt	11	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:108536265A>G	uc004bcu.1	+	6	897	c.780A>G	c.(778-780)GCA>GCG	p.A260A	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	260	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						AAAGTGAAGCAAAGTCACCTT	0.398													G	108536265	A	G	108536265	2	3	189	1	0	0	0	0	0	0	0	1	16157	117	5	3		3	TMEM38B	9	108536265	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	417658	108536265	32677166	2459	100316											
ZNF462	58499	broad.mit.edu	37	chr9	109734375	109734375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaacagccgtgttagcCctgtgcctctttctggggct	12	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:109734375C>T	uc004bcz.2	+	8	6806	c.6517C>T	c.(6517-6519)CCT>TCT	p.P2173S	ZNF462_uc010mto.2_Missense_Mutation_p.P2082S|ZNF462_uc004bda.2_Missense_Mutation_p.P2081S|ZNF462_uc011lvz.1_Missense_Mutation_p.P130S|ZNF462_uc004bdb.1_Missense_Mutation_p.P81S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2173					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CCGTGTTAGCCCTGTGCCTCT	0.527													T	109734375	C	T	109734375	3	4	189	1	0	0	0	0	1	0	0	0	17923	623	22	4	6543	4	ZNF462	9	109734375	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1198110	109734375	31479056	2460	100317											
KLF4	9314	broad.mit.edu	37	chr9	110250404	110250404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtctctctccgaggtaGgggcgccaggttgctaccgc	14	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:110250404G>A	uc004bdh.2	-	3	865	c.244C>T	c.(244-246)CTA>TTA	p.L82L	KLF4_uc004bdf.1_Silent_p.L41L|KLF4_uc004bdg.2_Silent_p.L91L	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	91					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			central_nervous_system(2)|lung(1)	3						CTCCGAGGTAGGGGCGCCAGG	0.667													A	110250404	G	A	110250404	2	1	189	1	0	0	0	0	0	0	0	1	8348	991	35	4		4	KLF4	9	110250404	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	516029	110250404	30963027	2461	100318											
ACTL7A	10881	broad.mit.edu	37	chr9	111625200	111625200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcaatgcacatcgccTaccagtcgcgcctgtccatg	8	18	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:111625200T>C	uc004bdj.1	+	1	598	c.598T>C	c.(598-600)TAC>CAC	p.Y200H		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	200						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GCACATCGCCTACCAGTCGCG	0.567													C	111625200	T	C	111625200	3	2	189	1	0	0	0	0	1	0	0	0	200	1522	53	3	600	3	ACTL7A	9	111625200	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1374796	111625200	29588231	2462	100319											
ACTL7A	10881	broad.mit.edu	37	chr9	111625720	111625720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtggcttccctaaccGtctgcagaaggagctaagca	11	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:111625720G>A	uc004bdj.1	+	1	1118	c.1118G>A	c.(1117-1119)CGT>CAT	p.R373H		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	373						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TTCCCTAACCGTCTGCAGAAG	0.587													A	111625720	G	A	111625720	3	1	189	1	0	0	0	0	1	0	0	0	200	1145	40	1	1120	1	ACTL7A	9	111625720	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	520	111625720	29587711	2463	100320											
IKBKAP	8518	broad.mit.edu	37	chr9	111663739	111663739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcaggcaaaaacactgGcaggtatgggaatgggttgt	13	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:111663739G>A	uc004bdm.3	-	18	2500	c.1980C>T	c.(1978-1980)TGC>TGT	p.C660C	IKBKAP_uc004bdl.2_Silent_p.C311C|IKBKAP_uc011lwc.1_Silent_p.C546C|IKBKAP_uc010mtq.2_Silent_p.C311C	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	660					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			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						AAAAACACTGGCAGGTATGGG	0.403													A	111663739	G	A	111663739	2	1	189	1	0	0	0	0	0	0	0	1	7610	1195	42	2		2	IKBKAP	9	111663739	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	38019	111663739	29549692	2464	100321											
IKBKAP	8518	broad.mit.edu	37	chr9	111681604	111681604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtaacttgtggtctatggTcatcccagggcaaagcagac	12	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:111681604T>C	uc004bdm.3	-	7	1098	c.578A>G	c.(577-579)GAC>GGC	p.D193G	IKBKAP_uc004bdl.2_5'Flank|IKBKAP_uc011lwc.1_Missense_Mutation_p.D79G|IKBKAP_uc010mtq.2_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	193					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			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						TGGTCTATGGTCATCCCAGGG	0.448													C	111681604	T	C	111681604	3	2	189	1	0	0	0	0	1	0	0	0	7610	1667	58	3	3544	3	IKBKAP	9	111681604	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	17865	111681604	29531827	2465	100322											
EPB41L4B	54566	broad.mit.edu	37	chr9	112029799	112029799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttctgaagaatagtattTaactcgaaagtgtaaagcat	9	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:112029799T>C	uc004bdz.1	-	4	782	c.487A>G	c.(487-489)AAA>GAA	p.K163E	EPB41L4B_uc004bea.2_Missense_Mutation_p.K163E	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	163	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GAATAGTATTTAACTCGAAAG	0.443													C	112029799	T	C	112029799	3	2	189	1	0	0	0	0	1	0	0	0	5156	1763	61	3	2459	3	EPB41L4B	9	112029799	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	348195	112029799	29183632	2466	100323											
PTPN3	5774	broad.mit.edu	37	chr9	112166752	112166752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggatcagcaccgtcccGctttcgaggcccttctttag	9	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:112166752G>A	uc004bed.2	-	19	2041	c.1929C>T	c.(1927-1929)AGC>AGT	p.S643S	PTPN3_uc004beb.2_Silent_p.S512S|PTPN3_uc004bec.2_Silent_p.S467S|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.S598S|PTPN3_uc011lwh.1_Silent_p.S489S|PTPN3_uc011lwd.1_Silent_p.S111S|PTPN3_uc011lwe.1_Silent_p.S356S|PTPN3_uc011lwf.1_Silent_p.S311S	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	643					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			ovary(3)	3						GCACCGTCCCGCTTTCGAGGC	0.502													A	112166752	G	A	112166752	2	1	189	1	0	0	0	0	0	0	0	1	12789	1078	38	1		1	PTPN3	9	112166752	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	136953	112166752	29046679	2467	100324											
SVEP1	79987	broad.mit.edu	37	chr9	113166770	113166770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattctctcagggaaccagCgaccatctttctgacaggtg	10	11	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:113166770C>T	uc010mtz.2	-	39	9840	c.9503G>A	c.(9502-9504)CGC>CAC	p.R3168H	SVEP1_uc010mty.2_Missense_Mutation_p.R1094H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3168	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AGGGAACCAGCGACCATCTTT	0.418													T	113166770	C	T	113166770	3	4	189	1	0	0	0	0	1	0	0	0	15417	768	27	1	1252	1	SVEP1	9	113166770	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1000018	113166770	28046661	2468	100325											
MUSK	4593	broad.mit.edu	37	chr9	113530124	113530124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaaagataacaaaggCtactgcgcccagtacagagg	10	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:113530124C>T	uc004bey.2	+	8	1043	c.945C>T	c.(943-945)GGC>GGT	p.G315G		NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	315	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						ATAACAAAGGCTACTGCGCCC	0.423													T	113530124	C	T	113530124	2	4	189	1	0	0	0	0	0	0	0	1	9989	784	28	2		2	MUSK	9	113530124	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	363354	113530124	27683307	2469	100326											
MUSK	4593	broad.mit.edu	37	chr9	113547866	113547866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttactagatagacttcAtcccaaccccatgtaccaga	5	14	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:113547866A>G	uc004bey.2	+	12	1744	c.1646A>G	c.(1645-1647)CAT>CGT	p.H549R	MUSK_uc004bez.1_Missense_Mutation_p.H129R	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	549	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GATAGACTTCATCCCAACCCC	0.493													G	113547866	A	G	113547866	3	3	189	1	0	0	0	0	1	0	0	0	9989	217	8	3	1728	3	MUSK	9	113547866	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	17742	113547866	27665565	2470	100327											
KIAA0368	23392	broad.mit.edu	37	chr9	114184265	114184265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccttccaaagtactaTacgctccaaccatcatagat	5	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:114184265T>C	uc004bfe.1	-	16	1925	c.1925A>G	c.(1924-1926)TAT>TGT	p.Y642C	KIAA0368_uc010muc.1_Missense_Mutation_p.Y464C	NM_001080398	NP_001073867			KIAA0368 protein												0						CAAAGTACTATACGCTCCAAC	0.443													C	114184265	T	C	114184265	3	2	189	1	0	0	0	0	1	0	0	0	8171	1406	49	3	4272	3	KIAA0368	9	114184265	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	636399	114184265	27029166	2471	100328											
C9orf84	158401	broad.mit.edu	37	chr9	114490230	114490230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatctggtacttcttttGccagagatggactcttttgt	9	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:114490230G>A	uc004bfr.2	-	11	1460	c.1325C>T	c.(1324-1326)GCA>GTA	p.A442V	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.A403V|C9orf84_uc010mug.2_Missense_Mutation_p.A388V	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	442										ovary(2)	2						TACTTCTTTTGCCAGAGATGG	0.348													A	114490230	G	A	114490230	3	1	189	1	0	0	0	0	1	0	0	0	2500	1319	46	2	3073	2	C9orf84	9	114490230	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	305965	114490230	26723201	2472	100329											
SUSD1	64420	broad.mit.edu	37	chr9	114911561	114911561	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgggaatgaatgtcttGttgttgtttgtggctcgata	13	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:114911561G>C	uc004bfu.2	-	3	377	c.336C>G	c.(334-336)AAC>AAG	p.N112K	SUSD1_uc010mui.2_Missense_Mutation_p.N112K|SUSD1_uc010muj.2_Missense_Mutation_p.N112K	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	112	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).					integral to membrane	calcium ion binding				0						TGAATGTCTTGTTGTTGTTTG	0.418													C	114911561	G	C	114911561	3	2	189	1	0	0	0	0	1	0	0	0	15404	1368	48	5	1967	5	SUSD1	9	114911561	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	421331	114911561	26301870	2473	100330											
ROD1	9991	broad.mit.edu	37	chr9	114997101	114997101	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaacttaaaagaatcaccTgtagcttgaggaaatccaat	6	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:114997101T>C	uc004bfw.2	-	9	1150	c.963A>G	c.(961-963)ACA>ACG	p.T321T	ROD1_uc004bfv.2_Silent_p.T327T|ROD1_uc004bfx.2_Silent_p.T324T|ROD1_uc011lwu.1_Silent_p.T293T|ROD1_uc004bfy.2_Silent_p.T226T|ROD1_uc004bfz.2_Silent_p.T293T	NM_005156	NP_005147	O95758	ROD1_HUMAN	ROD1 regulator of differentiation 1 isoform 1	321					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1						AAGAATCACCTGTAGCTTGAG	0.368													C	114997101	T	C	114997101	2	2	189	1	0	0	0	0	0	0	0	1	13519	1594	55	3		3	ROD1	9	114997101	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	85540	114997101	26216330	2474	100331											
BSPRY	54836	broad.mit.edu	37	chr9	116130558	116130558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgaagaagcagagggcAttttggatccccaggagtcg	15	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:116130558A>G	uc004bhg.3	+	5	625	c.577A>G	c.(577-579)ATT>GTT	p.I193V	BSPRY_uc010muw.2_Intron	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	193					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)	1						AGCAGAGGGCATTTTGGATCC	0.473													G	116130558	A	G	116130558	3	3	189	1	0	0	0	0	1	0	0	0	1532	217	8	3	595	3	BSPRY	9	116130558	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1133457	116130558	25082873	2475	100332											
HDHD3	81932	broad.mit.edu	37	chr9	116136524	116136524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagggctccacctccagCccatgggcccgggccttggt	14	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:116136524C>T	uc004bhi.1	-	2	895	c.111G>A	c.(109-111)GGG>GGA	p.G37G	HDHD3_uc004bhj.2_Silent_p.G37G|HDHD3_uc004bhk.2_Silent_p.G37G	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	37							phosphoglycolate phosphatase activity|protein binding				0						CCACCTCCAGCCCATGGGCCC	0.647													T	116136524	C	T	116136524	2	4	189	1	0	0	0	0	0	0	0	1	7024	726	26	2		2	HDHD3	9	116136524	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5966	116136524	25076907	2476	100333											
DFNB31	25861	broad.mit.edu	37	chr9	117186646	117186646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcagcttgaacagggCcatgacgagggcctccacag	14	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:117186646C>T	uc004biz.3	-	6	2033	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T	DFNB31_uc004bix.2_Missense_Mutation_p.A111T|DFNB31_uc004biy.3_Missense_Mutation_p.A79T|DFNB31_uc004bja.3_Missense_Mutation_p.A462T	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	462					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TTGAACAGGGCCATGACGAGG	0.642													T	117186646	C	T	117186646	3	4	189	1	0	0	0	0	1	0	0	0	4455	739	26	2	1367	2	DFNB31	9	117186646	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1050122	117186646	24026785	2477	100334											
DFNB31	25861	broad.mit.edu	37	chr9	117266884	117266884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagacgttgcggcgcgcGtggtaagcgttcaggcagtg	17	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:117266884G>A	uc004biz.3	-	1	847	c.198C>T	c.(196-198)CAC>CAT	p.H66H	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.H66H|DFNB31_uc004bjb.2_Silent_p.H66H	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	66					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TGCGGCGCGCGTGGTAAGCGT	0.677													A	117266884	G	A	117266884	2	1	189	1	0	0	0	0	0	0	0	1	4455	1136	40	1		1	DFNB31	9	117266884	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	80238	117266884	23946547	2478	100335											
TNC	3371	broad.mit.edu	37	chr9	117804499	117804499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctttccgagtctcctaccTcctgtaatgggcacataggt	8	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:117804499T>C	uc004bjj.3	-	18	5609	c.5247A>G	c.(5245-5247)GGA>GGG	p.G1749G	TNC_uc010mvf.2_Silent_p.G1476G	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1749	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GTCTCCTACCTCCTGTAATGG	0.478													C	117804499	T	C	117804499	2	2	189	1	0	0	0	0	0	0	0	1	16267	1565	54	3		3	TNC	9	117804499	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	537615	117804499	23408932	2479	100336											
TNC	3371	broad.mit.edu	37	chr9	117826299	117826299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagttgagtttgagggcaTcccagcccacctcggccacc	10	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:117826299T>C	uc004bjj.3	-	12	3898	c.3536A>G	c.(3535-3537)GAT>GGT	p.D1179G	TNC_uc010mvf.2_Missense_Mutation_p.D1179G	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1179	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTTGAGGGCATCCCAGCCCAC	0.522													C	117826299	T	C	117826299	3	2	189	1	0	0	0	0	1	0	0	0	16267	1435	50	3	3137	3	TNC	9	117826299	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	21800	117826299	23387132	2480	100337											
TNC	3371	broad.mit.edu	37	chr9	117853152	117853152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtaaacgtggttaaacAccactggctggttctcttct	9	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:117853152A>G	uc004bjj.3	-	2	508	c.146T>C	c.(145-147)GTG>GCG	p.V49A	TNC_uc010mvf.2_Missense_Mutation_p.V49A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	49					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GTGGTTAAACACCACTGGCTG	0.577													G	117853152	A	G	117853152	3	3	189	1	0	0	0	0	1	0	0	0	16267	159	6	3	6567	3	TNC	9	117853152	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26853	117853152	23360279	2481	100338											
PAPPA	5069	broad.mit.edu	37	chr9	118950133	118950133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacccgacggtgacgcgCgagcaggtggacttccagca	14	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:118950133C>T	uc004bjn.2	+	2	1497	c.1116C>T	c.(1114-1116)CGC>CGT	p.R372R	PAPPA_uc011lxp.1_Silent_p.R165R|PAPPA_uc011lxq.1_Silent_p.R165R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	372	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CGGTGACGCGCGAGCAGGTGG	0.572													T	118950133	C	T	118950133	2	4	189	1	0	0	0	0	0	0	0	1	11432	755	27	1		1	PAPPA	9	118950133	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1096981	118950133	22263298	2482	100339											
PAPPA	5069	broad.mit.edu	37	chr9	118974132	118974132	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaaacacaagtcctgtggTgacccagggccaggaaatga	11	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:118974132T>C	uc004bjn.2	+	4	2220	c.1839T>C	c.(1837-1839)GGT>GGC	p.G613G	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	613					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AGTCCTGTGGTGACCCAGGGC	0.532													C	118974132	T	C	118974132	2	2	189	1	0	0	0	0	0	0	0	1	11432	1683	59	3		3	PAPPA	9	118974132	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	23999	118974132	22239299	2483	100340											
ASTN2	23245	broad.mit.edu	37	chr9	119204810	119204810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagtgcctccctcgtgTatccacagcatacagagtga	9	13	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:119204810T>C	uc004bjs.1	-	21	3621	c.3520A>G	c.(3520-3522)ACA>GCA	p.T1174A	ASTN2_uc004bjr.1_Missense_Mutation_p.T1170A|ASTN2_uc004bjt.1_Missense_Mutation_p.T1123A|ASTN2_uc004bjp.1_Missense_Mutation_p.T267A|ASTN2_uc004bjq.1_Missense_Mutation_p.T226A|ASTN2_uc011lxr.1_Missense_Mutation_p.T226A|ASTN2_uc011lxs.1_Missense_Mutation_p.T226A|ASTN2_uc011lxt.1_Missense_Mutation_p.T226A|ASTN2_uc004bjo.1_Translation_Start_Site	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1174	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CTCCCTCGTGTATCCACAGCA	0.537													C	119204810	T	C	119204810	3	2	189	1	0	0	0	0	1	0	0	0	1065	1638	57	3	552	3	ASTN2	9	119204810	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	230678	119204810	22008621	2484	100341											
DBC1	1620	broad.mit.edu	37	chr9	122011371	122011371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgaggggcactggatgGcggaccagatctctcctctc	14	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:122011371G>A	uc004bkc.2	-	3	732	c.276C>T	c.(274-276)CGC>CGT	p.R92R	DBC1_uc004bkd.2_Silent_p.R92R	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	92	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GCACTGGATGGCGGACCAGAT	0.532													A	122011371	G	A	122011371	2	1	189	1	0	0	0	0	0	0	0	1	4247	1190	42	2		2	DBC1	9	122011371	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2806561	122011371	19202060	2485	100342											
C5	727	broad.mit.edu	37	chr9	123737152	123737152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgatgtccatactcaagcGgagttgtttaaccaggagtg	11	8	1	0	rs141543606	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:123737152G>A	uc004bkv.2	-	30	3952	c.3922C>T	c.(3922-3924)CGC>TGC	p.R1308C		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1308					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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATACTCAAGCGGAGTTGTTTA	0.393													A	123737152	G	A	123737152	3	1	189	1	0	0	0	0	1	0	0	0	2280	1116	39	1	1156	1	C5	9	123737152	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1725781	123737152	17476279	2486	100343											
DAB2IP	153090	broad.mit.edu	37	chr9	124543794	124543794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacgcagagatgcaagcGgctgtggactccaaacagaa	12	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:124543794G>A	uc004bln.2	+	15	3351	c.3282G>A	c.(3280-3282)GCG>GCA	p.A1094A	DAB2IP_uc004blo.2_Silent_p.A998A|DAB2IP_uc004blp.2_Silent_p.A527A	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	1122	Potential.				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			ovary(1)|central_nervous_system(1)	2						AGATGCAAGCGGCTGTGGACT	0.567													A	124543794	G	A	124543794	2	1	189	1	0	0	0	0	0	0	0	1	4219	1103	39	1		1	DAB2IP	9	124543794	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	806642	124543794	16669637	2487	100344											
TTLL11	158135	broad.mit.edu	37	chr9	124751996	124751996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacaaccaccatcaggTttcacgataaaagtgggctt	8	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:124751996T>C	uc004blt.1	-	4	1205	c.1017A>G	c.(1015-1017)AAA>AAG	p.K339K	TTLL11_uc011lyl.1_Silent_p.K339K|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Silent_p.K16K|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	339	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						CACCATCAGGTTTCACGATAA	0.468													C	124751996	T	C	124751996	2	2	189	1	0	0	0	0	0	0	0	1	16721	1722	60	3		3	TTLL11	9	124751996	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	208202	124751996	16461435	2488	100345											
TTLL11	158135	broad.mit.edu	37	chr9	124801573	124801573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacttgttcacttgaccGgagaatatgtcattgtcgtg	11	7	2	2	rs116781476	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:124801573G>A	uc004blt.1	-	2	995	c.807C>T	c.(805-807)TCC>TCT	p.S269S	TTLL11_uc011lyl.1_Silent_p.S269S|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_5'UTR|TTLL11_uc004blu.1_Silent_p.S269S	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	269	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						TCACTTGACCGGAGAATATGT	0.418													A	124801573	G	A	124801573	2	1	189	1	0	0	0	0	0	0	0	1	16721	1103	39	1		1	TTLL11	9	124801573	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	49577	124801573	16411858	2489	100346											
NDUFA8	4702	broad.mit.edu	37	chr9	124914655	124914655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctccatagtgatgggcCgcagctttaagcacagcaga	12	10	0	3	rs117079538	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:124914655C>T	uc004blv.2	-	2	226	c.84G>A	c.(82-84)GCG>GCA	p.A28A		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	28					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	AGTGATGGGCCGCAGCTTTAA	0.478													T	124914655	C	T	124914655	2	4	189	1	0	0	0	0	0	0	0	1	10271	639	23	1		1	NDUFA8	9	124914655	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	113082	124914655	16298776	2490	100347											
MRRF	92399	broad.mit.edu	37	chr9	125033202	125033202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaagtgcttccgcatggTccaccctacctttcgcaatt	6	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:125033202T>C	uc004bmb.2	+	2	147	c.32T>C	c.(31-33)GTC>GCC	p.V11A	MRRF_uc004bmc.2_Missense_Mutation_p.V11A|MRRF_uc011lyq.1_Missense_Mutation_p.V32A|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Missense_Mutation_p.V11A|MRRF_uc011lyr.1_Missense_Mutation_p.V11A|MRRF_uc004bmd.2_Missense_Mutation_p.V11A|MRRF_uc004bme.2_RNA	NM_138777	NP_620132	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor isoform	11					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						TTCCGCATGGTCCACCCTACC	0.423													C	125033202	T	C	125033202	3	2	189	1	0	0	0	0	1	0	0	0	9850	1667	58	3	34	3	MRRF	9	125033202	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	118547	125033202	16180229	2491	100348											
ZBTB6	10773	broad.mit.edu	37	chr9	125673881	125673881	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatctcacagtctttatcAgaattttcatcttcattctt	2	9	7	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:125673881A>G	uc004bnh.2	-	2	560	c.471T>C	c.(469-471)TCT>TCC	p.S157S		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGTCTTTATCAGAATTTTCAT	0.343													G	125673881	A	G	125673881	2	3	189	1	0	0	0	0	0	0	0	1	17549	175	7	3		3	ZBTB6	9	125673881	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	640679	125673881	15539550	2492	100349											
CRB2	286204	broad.mit.edu	37	chr9	126133465	126133465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgcactcgggagtccGctggcctgttgctccagttt	11	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:126133465G>A	uc004bnx.1	+	8	2136	c.2044G>A	c.(2044-2046)GCT>ACT	p.A682T	CRB2_uc004bnw.1_Missense_Mutation_p.A682T	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	682	Extracellular (Potential).|Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TCGGGAGTCCGCTGGCCTGTT	0.612													A	126133465	G	A	126133465	3	1	189	1	0	0	0	0	1	0	0	0	3849	1087	38	1	2074	1	CRB2	9	126133465	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	459584	126133465	15079966	2493	100350											
DENND1A	57706	broad.mit.edu	37	chr9	126212994	126212994	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttcaagcggtttttcAcctcttttattcccattttt	4	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:126212994A>C	uc004bnz.1	-	18	1567	c.1334T>G	c.(1333-1335)GTG>GGG	p.V445G	DENND1A_uc011lzl.1_Missense_Mutation_p.V220G|DENND1A_uc004bny.1_Missense_Mutation_p.V184G|DENND1A_uc011lzm.1_Missense_Mutation_p.V413G|DENND1A_uc004boa.1_Missense_Mutation_p.V445G|DENND1A_uc004bob.1_Missense_Mutation_p.V415G|DENND1A_uc004boc.2_Missense_Mutation_p.V413G	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	445						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						GCGGTTTTTCACCTCTTTTAT	0.353													C	126212994	A	C	126212994	3	2	189	1	0	0	0	0	1	0	0	0	4426	159	6	5	1822	5	DENND1A	9	126212994	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	79529	126212994	15000437	2494	100351											
NR5A1	2516	broad.mit.edu	37	chr9	127245230	127245230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtcaagcagggcggcgTtggccttctcctgagcgtct	14	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:127245230T>C	uc004boo.1	-	7	1380	c.1193A>G	c.(1192-1194)AAC>AGC	p.N398S		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	398	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						CAGGGCGGCGTTGGCCTTCTC	0.592													C	127245230	T	C	127245230	3	2	189	1	0	0	0	0	1	0	0	0	10635	1725	60	3	196	3	NR5A1	9	127245230	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1032236	127245230	13968201	2495	100352											
OLFML2A	169611	broad.mit.edu	37	chr9	127549284	127549284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggaccaggtgaggatgAcctcggagggctccgactgc	15	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:127549284A>G	uc004bov.2	+	2	234	c.121A>G	c.(121-123)ACC>GCC	p.T41A	OLFML2A_uc010mwr.1_Missense_Mutation_p.T41A	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	41											0						GGTGAGGATGACCTCGGAGGG	0.647													G	127549284	A	G	127549284	3	3	189	1	0	0	0	0	1	0	0	0	10857	275	10	3	127	3	OLFML2A	9	127549284	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	304054	127549284	13664147	2496	100353											
OLFML2A	169611	broad.mit.edu	37	chr9	127549392	127549392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggaggacttctacacgGtggagactgtgagctcgggc	17	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:127549392G>T	uc004bov.2	+	2	342	c.229G>T	c.(229-231)GTG>TTG	p.V77L	OLFML2A_uc010mwr.1_Missense_Mutation_p.V77L	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	77											0						CTTCTACACGGTGGAGACTGT	0.627													T	127549392	G	T	127549392	3	4	189	1	0	0	0	0	1	0	0	0	10857	1261	44	5	235	5	OLFML2A	9	127549392	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	108	127549392	13664039	2497	100354											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870558	129870558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggagagctccaacgcGttgtcccgcttgcggatgat	14	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:129870558G>A	uc004bqr.1	-	2	953	c.453C>T	c.(451-453)AAC>AAT	p.N151N	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	151					multicellular organismal development|signal transduction	extracellular space	receptor binding				0						GCTCCAACGCGTTGTCCCGCT	0.602													A	129870558	G	A	129870558	2	1	189	1	0	0	0	0	0	0	0	1	614	1136	40	1		1	ANGPTL2	9	129870558	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2321166	129870558	11342873	2498	100355											
ZNF79	7633	broad.mit.edu	37	chr9	130207103	130207103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcagccagagtgcaaAcctcacaaaccatcagagga	9	13	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:130207103A>G	uc004bqw.3	+	5	1538	c.1124A>G	c.(1123-1125)AAC>AGC	p.N375S	ZNF79_uc011maf.1_Missense_Mutation_p.N351S|ZNF79_uc011mag.1_Missense_Mutation_p.N351S	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	375	C2H2-type 7.			Missing (in Ref. 4; CAA46339).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CAGAGTGCAAACCTCACAAAC	0.542													G	130207103	A	G	130207103	3	3	189	1	0	0	0	0	1	0	0	0	18158	43	2	3	1142	3	ZNF79	9	130207103	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	336545	130207103	11006328	2499	100356											
STXBP1	6812	broad.mit.edu	37	chr9	130416038	130416038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggatgctgtcctcctgCtgcaagatgacagacatcat	10	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:130416038C>T	uc004brl.2	+	3	329	c.132C>T	c.(130-132)TGC>TGT	p.C44C	STXBP1_uc004brk.2_Silent_p.C44C	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	44					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			skin(1)	1						TGTCCTCCTGCTGCAAGATGA	0.448													T	130416038	C	T	130416038	2	4	189	1	0	0	0	0	0	0	0	1	15351	805	28	2		2	STXBP1	9	130416038	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	208935	130416038	10797393	2500	100357											
PTRH1	138428	broad.mit.edu	37	chr9	130476402	130476402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccccagtgagggcccctGgcttcgctcacggatgtggt	15	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:130476402G>T	uc004bro.2	-	5	640	c.622C>A	c.(622-624)CAG>AAG	p.Q208K	PTRH1_uc004brm.2_Intron|PTRH1_uc010mxm.2_3'UTR|PTRH1_uc011mah.1_Missense_Mutation_p.Q221K|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog	208					translation		aminoacyl-tRNA hydrolase activity|protein binding				0						GAGGGCCCCTGGCTTCGCTCA	0.647													T	130476402	G	T	130476402	3	4	189	1	0	0	0	0	1	0	0	0	12816	1357	47	5	26	5	PTRH1	9	130476402	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	60364	130476402	10737029	2501	100358											
PIP5KL1	138429	broad.mit.edu	37	chr9	130687442	130687442	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatcctcgtggagacgTtggaaggctatcaggaggct	13	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:130687442T>C	uc011mao.1	-	9	906	c.861A>G	c.(859-861)CAA>CAG	p.Q287Q	PIP5KL1_uc004bsu.2_Silent_p.Q84Q	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	287	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						CGTGGAGACGTTGGAAGGCTA	0.632													C	130687442	T	C	130687442	2	2	189	1	0	0	0	0	0	0	0	1	11942	1722	60	3		3	PIP5KL1	9	130687442	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	211040	130687442	10525989	2502	100359											
SLC25A25	114789	broad.mit.edu	37	chr9	130868031	130868031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcctcccgcagcaacaaCatgggcatcgttggtggctt	11	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:130868031C>T	uc004bte.2	+	6	698	c.669C>T	c.(667-669)AAC>AAT	p.N223N	SLC25A25_uc004btb.2_Silent_p.N257N|SLC25A25_uc004btc.2_Silent_p.N243N|SLC25A25_uc004btd.2_Silent_p.N255N|SLC25A25_uc004btf.2_Silent_p.N120N	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	223	Solcar 1.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						GCAGCAACAACATGGGCATCG	0.627													T	130868031	C	T	130868031	2	4	189	1	0	0	0	0	0	0	0	1	14488	477	17	4		4	SLC25A25	9	130868031	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	180589	130868031	10345400	2503	100360											
CIZ1	25792	broad.mit.edu	37	chr9	130941627	130941627	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtttcggtactgtcaTccgggcctgcggctgggcct	14	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:130941627T>A	uc004btt.2	-	8	1022	c.859A>T	c.(859-861)ATG>TTG	p.M287L	CIZ1_uc004btr.2_Missense_Mutation_p.M287L|CIZ1_uc004bts.2_Missense_Mutation_p.M258L|CIZ1_uc011maq.1_Missense_Mutation_p.M282L|CIZ1_uc004btu.2_Missense_Mutation_p.M263L|CIZ1_uc011mar.1_Missense_Mutation_p.M186L|CIZ1_uc011mas.1_Missense_Mutation_p.M317L|CIZ1_uc004btw.2_Missense_Mutation_p.M287L|CIZ1_uc004btv.2_Missense_Mutation_p.M287L|CIZ1_uc004btx.2_Missense_Mutation_p.M263L	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	287	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						GGTACTGTCATCCGGGCCTGC	0.582													A	130941627	T	A	130941627	3	1	189	1	0	0	0	0	1	0	0	0	3441	1435	50	5	1877	5	CIZ1	9	130941627	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	73596	130941627	10271804	2504	100361											
GOLGA2	2801	broad.mit.edu	37	chr9	131021357	131021357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtggcagcttccaggCgctcctaaggggccagaaaa	15	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131021357C>T	uc011maw.1	-	20	2034	c.2021G>A	c.(2020-2022)CGC>CAC	p.R674H	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Missense_Mutation_p.R147H	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	674	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						AGCTTCCAGGCGCTCCTAAGG	0.622													T	131021357	C	T	131021357	3	4	189	1	0	0	0	0	1	0	0	0	6552	768	27	1	1015	1	GOLGA2	9	131021357	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	79730	131021357	10192074	2505	100362											
COQ4	51117	broad.mit.edu	37	chr9	131087459	131087459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaccacaggacaccgCaccctgaaggtcctcaggga	14	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131087459C>T	uc004bur.3	+	3	587	c.240C>T	c.(238-240)CGC>CGT	p.R80R	TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Silent_p.R80R|COQ4_uc004bus.2_Silent_p.R56R|COQ4_uc010mxy.2_Silent_p.R56R	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog precursor	80					ubiquinone biosynthetic process	mitochondrial inner membrane					0						CAGGACACCGCACCCTGAAGG	0.507													T	131087459	C	T	131087459	2	4	189	1	0	0	0	0	0	0	0	1	3747	697	25	2		2	COQ4	9	131087459	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	66102	131087459	10125972	2506	100363											
PKN3	29941	broad.mit.edu	37	chr9	131469074	131469074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggatgaagatcagcaGcctggaggccagtgggtccc	16	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131469074G>A	uc004bvw.2	+	4	887	c.494G>A	c.(493-495)AGC>AAC	p.S165N	PKN3_uc010myh.2_Missense_Mutation_p.S165N|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	165	REM 2.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						AAGATCAGCAGCCTGGAGGCC	0.657													A	131469074	G	A	131469074	3	1	189	1	0	0	0	0	1	0	0	0	11981	971	34	2	508	2	PKN3	9	131469074	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	381615	131469074	9744357	2507	100364											
ZER1	10444	broad.mit.edu	37	chr9	131504980	131504980	+	Frame_Shift_Del	DEL	G	G	-													tactggaattccagctcctcGgggatgctgaagttgcagag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131504979_131504979CG>C	uc004bwa.1	-	8	1838	c.1405_1405CG>G	c.(1405-1407)gagfs	p.E469fs		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	469					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCCAGCTCCTCGGGGATGCTG	0.632													-	131504980	G	-	131504980	7	5	189	1	0	1	0	1	0	0	0	0	17622	1103	39	0	928	0	ZER1	9	131504980	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	35906	131504980	9708451	2508	100365											
ENDOG	2021	broad.mit.edu	37	chr9	131584738	131584738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgagctccgcacctacgTgatgcccaacgcacctgtgg	10	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131584738T>C	uc004bwc.2	+	3	928	c.743T>C	c.(742-744)GTG>GCG	p.V248A	C9orf114_uc004bwd.2_3'UTR|C9orf114_uc004bwe.2_3'UTR|C9orf114_uc010mym.2_RNA	NM_004435	NP_004426	Q14249	NUCG_HUMAN	endonuclease G precursor	248						mitochondrion	endonuclease activity|metal ion binding|nucleic acid binding				0						CGCACCTACGTGATGCCCAAC	0.597													C	131584738	T	C	131584738	3	2	189	1	0	0	0	0	1	0	0	0	5115	1696	59	3	753	3	ENDOG	9	131584738	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	79758	131584738	9628693	2509	100366											
PHYHD1	254295	broad.mit.edu	37	chr9	131703842	131703842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcaccacctggagcccGgagaactggtaggtgacagg	15	11	1	2	rs147819781	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131703842G>A	uc004bwo.2	+	12	1755	c.822G>A	c.(820-822)CCG>CCA	p.P274P	PHYHD1_uc004bwn.2_Missense_Mutation_p.R267Q|PHYHD1_uc004bwm.2_RNA|PHYHD1_uc004bwp.2_Silent_p.P253P|NUP188_uc004bwq.1_Silent_p.P10P	NM_001100876	NP_001094346	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	274							metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CCTGGAGCCCGGAGAACTGGT	0.592													A	131703842	G	A	131703842	2	1	189	1	0	0	0	0	0	0	0	1	11865	1116	39	1		1	PHYHD1	9	131703842	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	119104	131703842	9509589	2510	100367											
DOLK	22845	broad.mit.edu	37	chr9	131709341	131709341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatggaggcgggcaatAggccactgtttgcggacatt	14	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131709341A>G	uc004bwr.2	-	1	672	c.242T>C	c.(241-243)CTA>CCA	p.L81P	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	81	Helical; (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						GGCGGGCAATAGGCCACTGTT	0.577													G	131709341	A	G	131709341	3	3	189	1	0	0	0	0	1	0	0	0	4703	420	15	3	1378	3	DOLK	9	131709341	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5499	131709341	9504090	2511	100368											
NUP188	23511	broad.mit.edu	37	chr9	131767594	131767594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccttagaacaaaaatgggGatggcctcccctcagctgtt	9	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131767594G>A	uc004bws.1	+	40	4544	c.4522G>A	c.(4522-4524)GAT>AAT	p.D1508N		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1508					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CAAAAATGGGGATGGCCTCCC	0.572													A	131767594	G	A	131767594	3	1	189	1	0	0	0	0	1	0	0	0	10758	1174	41	4	4680	4	NUP188	9	131767594	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	58253	131767594	9445837	2512	100369											
FAM73B	84895	broad.mit.edu	37	chr9	131832578	131832578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacctggacaatgtgcgctAcacgtcactgcccgcgctgg	12	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131832578A>G	uc004bxa.2	+	16	1814	c.1628A>G	c.(1627-1629)TAC>TGC	p.Y543C	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc004bxb.2_Missense_Mutation_p.Y119C	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	543						integral to membrane				skin(1)	1						AATGTGCGCTACACGTCACTG	0.667													G	131832578	A	G	131832578	3	3	189	1	0	0	0	0	1	0	0	0	5618	391	14	3	1686	3	FAM73B	9	131832578	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	64984	131832578	9380853	2513	100370											
CRAT	1384	broad.mit.edu	37	chr9	131857756	131857756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtaatgcgccaggcgggCggcgttggtctccgcgcagc	17	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:131857756C>T	uc004bxh.2	-	14	2083	c.1801G>A	c.(1801-1803)GCC>ACC	p.A601T	CRAT_uc004bxg.2_Missense_Mutation_p.A580T|CRAT_uc004bxk.3_Missense_Mutation_p.A580T	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	601					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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCCAGGCGGGCGGCGTTGGTC	0.667													T	131857756	C	T	131857756	3	4	189	1	0	0	0	0	1	0	0	0	3847	768	27	1	83	1	CRAT	9	131857756	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	25178	131857756	9355675	2514	100371											
C9orf106	414318	broad.mit.edu	37	chr9	132084350	132084350	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggccctgattgcctgctTtgcacacagggctgtgagct	12	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:132084350T>C	uc004bxs.2	+	2	311	c.258T>C	c.(256-258)CTT>CTC	p.L86L		NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN	hypothetical protein LOC414318	86											0		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				attgcctgctttgcacacagg	0.075													C	132084350	T	C	132084350	2	2	189	1	0	0	0	0	0	0	0	1	2447	1828	64	3		3	C9orf106	9	132084350	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	226594	132084350	9129081	2515	100372											
USP20	10868	broad.mit.edu	37	chr9	132620767	132620767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaaagcacaacttgaccGtgaacctgaccacgttccga	7	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:132620767G>A	uc004bys.2	+	6	431	c.220G>A	c.(220-222)GTG>ATG	p.V74M	USP20_uc004byr.2_Missense_Mutation_p.V74M|USP20_uc004byt.1_Missense_Mutation_p.V74M	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	74	UBP-type.				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	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CAACTTGACCGTGAACCTGAC	0.557													A	132620767	G	A	132620767	3	1	189	1	0	0	0	0	1	0	0	0	17049	1145	40	1	234	1	USP20	9	132620767	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	536417	132620767	8592664	2516	100373											
USP20	10868	broad.mit.edu	37	chr9	132630544	132630544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgatcccagatgaggcGggccgagccatctctgagaa	13	12	1	4	rs35868738		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:132630544G>A	uc004bys.2	+	11	1162	c.951G>A	c.(949-951)GCG>GCA	p.A317A	USP20_uc004byr.2_Silent_p.A317A|USP20_uc004byt.1_Silent_p.A317A	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	317					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	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CAGATGAGGCGGGCCGAGCCA	0.657													A	132630544	G	A	132630544	2	1	189	1	0	0	0	0	0	0	0	1	17049	1103	39	1		1	USP20	9	132630544	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	9777	132630544	8582887	2517	100374											
FNBP1	23048	broad.mit.edu	37	chr9	132687349	132687349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttatctgacacagtgcGcttcattggctgagtgtaat	11	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:132687349G>A	uc004byw.1	-	9	1096	c.877C>T	c.(877-879)CGC>TGC	p.R293C	FNBP1_uc011mbv.1_Missense_Mutation_p.R293C|FNBP1_uc011mbw.1_Missense_Mutation_p.R293C|FNBP1_uc004bza.2_Missense_Mutation_p.R293C|FNBP1_uc004byz.1_Missense_Mutation_p.R293C|FNBP1_uc004byx.1_Missense_Mutation_p.R214C|FNBP1_uc004byy.1_Missense_Mutation_p.R214C	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	293	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GACACAGTGCGCTTCATTGGC	0.423			T	MLL	AML								A	132687349	G	A	132687349	3	1	189	1	0	0	0	0	1	0	0	0	5965	1087	38	1	1012	1	FNBP1	9	132687349	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	56805	132687349	8526082	2518	100375											
ASS1	445	broad.mit.edu	37	chr9	133342148	133342148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcctgaattctacaacCggttcaagggccgcaatgac	11	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:133342148C>T	uc004bzm.2	+	7	813	c.457C>T	c.(457-459)CGG>TGG	p.R153W	ASS1_uc004bzn.2_Missense_Mutation_p.R153W|ASS1_uc010mza.2_Missense_Mutation_p.R229W|ASS1_uc004bzo.2_Missense_Mutation_p.R134W|ASS1_uc010mzb.2_Missense_Mutation_p.R191W|ASS1_uc004bzp.2_Missense_Mutation_p.R153W|ASS1_uc010mzc.2_Missense_Mutation_p.R153W	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	153					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATTCTACAACCGGTTCAAGGG	0.612													T	133342148	C	T	133342148	3	4	189	1	0	0	0	0	1	0	0	0	1061	643	23	1	475	1	ASS1	9	133342148	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	654799	133342148	7871283	2519	100376											
FUBP3	8939	broad.mit.edu	37	chr9	133491810	133491810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggctttcataatgacaTagacagcaacagcacaatcc	6	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:133491810T>C	uc004bzr.1	+	7	581	c.473T>C	c.(472-474)ATA>ACA	p.I158T	FUBP3_uc010mzd.1_Missense_Mutation_p.I98T|FUBP3_uc004bzs.1_Missense_Mutation_p.I71T	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	158					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CATAATGACATAGACAGCAAC	0.502													C	133491810	T	C	133491810	3	2	189	1	0	0	0	0	1	0	0	0	6093	1406	49	3	499	3	FUBP3	9	133491810	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	149662	133491810	7721621	2520	100377											
NUP214	8021	broad.mit.edu	37	chr9	134003832	134003834	+	In_Frame_Del	DEL	ATT	ATT	-													tgtccagtgaatatggttccAttattgctttttttgatgtt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:134003831_134003833CATT>C	uc004cag.3	+	2	465_467	c.354_356CATT>C	c.(352-357)tccatt>tcCt	p.I120del	NUP214_uc004cah.3_In_Frame_Del_p.I120del|NUP214_uc004caf.1_In_Frame_Del_p.I120del	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	120					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)		AATATGGTTCCATTATTGCTTTT	0.409			T	"DEK, SET, ABL1"	"AML, T-ALL"								-	134003834	ATT	-	134003832	7	5	189	1	0	1	0	1	0	0	0	0	10762	217	8	0	365	0	NUP214	9	134003832	In_Frame_Del	DEL	ATT	TCGA-CG-5721-01A-11D-1600-08	512022	134003832	7209599	2521	100378											
NUP214	8021	broad.mit.edu	37	chr9	134072751	134072751	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accccaggagaacctgccgcAtctagcagcagacctgtggc	11	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:134072751A>T	uc004cag.2	+	29	3981	c.3870A>T	c.(3868-3870)GCA>GCT	p.A1290A	NUP214_uc004cah.2_Silent_p.A1280A|NUP214_uc004cai.2_Silent_p.A720A|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.A116A|NUP214_uc011mcf.1_Silent_p.A67A|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1290	Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.				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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACCTGCCGCATCTAGCAGCA	0.547			T	DEK|SET|ABL1	AML|T-ALL								T	134072751	A	T	134072751	2	4	189	1	0	0	0	0	0	0	0	1	10762	204	8	5		5	NUP214	9	134072751	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	68919	134072751	7140680	2522	100379											
NUP214	8021	broad.mit.edu	37	chr9	134073745	134073745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatagcctccagcaccacgTccattgttgctcccggccca	7	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:134073745T>C	uc004cag.2	+	29	4975	c.4864T>C	c.(4864-4866)TCC>CCC	p.S1622P	NUP214_uc004cah.2_Missense_Mutation_p.S1612P|NUP214_uc004cai.2_Missense_Mutation_p.S1052P|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S448P|NUP214_uc011mcf.1_Missense_Mutation_p.S399P|NUP214_uc010mzh.1_Missense_Mutation_p.S136P|NUP214_uc010mzi.1_Missense_Mutation_p.S136P	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1622	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGCACCACGTCCATTGTTGC	0.582			T	DEK|SET|ABL1	AML|T-ALL								C	134073745	T	C	134073745	3	2	189	1	0	0	0	0	1	0	0	0	10762	1667	58	3	4978	3	NUP214	9	134073745	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	994	134073745	7139686	2523	100380											
POMT1	10585	broad.mit.edu	37	chr9	134379614	134379614	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttctacaagatgtggggAtttttgaagcgccctgtagt	11	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:134379614A>T	uc004cav.2	+	2	211	c.9A>T	c.(7-9)GGA>GGT	p.G3G	POMT1_uc011mci.1_Silent_p.G3G|POMT1_uc004cax.2_Silent_p.G3G|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Silent_p.G3G|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Silent_p.G3G	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	3					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AGATGTGGGGATTTTTGAAGC	0.582											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	134379614	A	T	134379614	2	4	189	1	0	0	0	0	0	0	0	1	12245	320	12	5		5	POMT1	9	134379614	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	305869	134379614	6833817	2524	100381											
UCK1	83549	broad.mit.edu	37	chr9	134405877	134405877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcgcgatttacctggAtggtcaaaattgtactgtcc	11	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:134405877A>T	uc004cay.2	-	2	365	c.264T>A	c.(262-264)CAT>CAA	p.H88Q	UCK1_uc010mzk.2_Missense_Mutation_p.H79Q|UCK1_uc004cba.2_Missense_Mutation_p.H88Q|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	88					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ATTTACCTGGATGGTCAAAAT	0.592													T	134405877	A	T	134405877	3	4	189	1	0	0	0	0	1	0	0	0	16920	330	12	5	593	5	UCK1	9	134405877	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26263	134405877	6807554	2525	100382											
NTNG2	84628	broad.mit.edu	37	chr9	135042324	135042324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagggccccacctgggagTtctacgcctgccagcccaag	12	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:135042324T>C	uc004cbh.2	+	2	882	c.106T>C	c.(106-108)TTC>CTC	p.F36L		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	36	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CACCTGGGAGTTCTACGCCTG	0.607													C	135042324	T	C	135042324	3	2	189	1	0	0	0	0	1	0	0	0	10705	1725	60	3	108	3	NTNG2	9	135042324	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	636447	135042324	6171107	2526	100383											
SETX	23064	broad.mit.edu	37	chr9	135152521	135152521	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggccaatctgatgaacaTcgaatggcttctgtctgtct	9	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:135152521T>C	uc004cbk.2	-	22	7044	c.6861A>G	c.(6859-6861)CGA>CGG	p.R2287R	SETX_uc004cbj.2_Silent_p.R1906R|SETX_uc010mzt.2_Silent_p.R1906R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2287					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGATGAACATCGAATGGCTT	0.358													C	135152521	T	C	135152521	2	2	189	1	0	0	0	0	0	0	0	1	14141	1422	50	3		3	SETX	9	135152521	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	110197	135152521	6060910	2527	100384											
C9orf98	158067	broad.mit.edu	37	chr9	135742312	135742312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgttgttttccctgaggcGggtggacctaatattacaat	10	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:135742312G>A	uc004cbu.1	-	3	754	c.198C>T	c.(196-198)CCC>CCT	p.P66P	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	66						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		TCCCTGAGGCGGGTGGACCTA	0.458													A	135742312	G	A	135742312	2	1	189	1	0	0	0	0	0	0	0	1	2509	1103	39	1		1	C9orf98	9	135742312	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	589791	135742312	5471119	2528	100385											
CEL	1056	broad.mit.edu	37	chr9	135945877	135945877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctacgcctacctgttttCccatccctctcggatgcccg	7	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:135945877C>T	uc010naa.1	+	10	1341	c.1325C>T	c.(1324-1326)TCC>TTC	p.S442F		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	439					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			pancreas(1)	1				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)		TACCTGTTTTCCCATCCCTCT	0.622													T	135945877	C	T	135945877	3	4	189	1	0	0	0	0	1	0	0	0	3209	855	30	4	1363	4	CEL	9	135945877	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	203565	135945877	5267554	2529	100386											
RALGDS	5900	broad.mit.edu	37	chr9	135985812	135985812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaccagcttctccagcGtgccagccttcacggtccgc	9	19	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:135985812G>A	uc004cco.2	-	3	379	c.359C>T	c.(358-360)ACG>ATG	p.T120M	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.T120M|RALGDS_uc004ccr.2_Missense_Mutation_p.T119M|RALGDS_uc011mcv.1_Missense_Mutation_p.T103M|RALGDS_uc004ccs.2_Missense_Mutation_p.T65M|RALGDS_uc011mcw.1_Missense_Mutation_p.T191M|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	120	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTTCTCCAGCGTGCCAGCCTT	0.587			T	CIITA	PMBL|Hodgkin Lymphona|								A	135985812	G	A	135985812	3	1	189	1	0	0	0	0	1	0	0	0	13016	1145	40	1	2449	1	RALGDS	9	135985812	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	39935	135985812	5227619	2530	100387											
REXO4	57109	broad.mit.edu	37	chr9	136279819	136279819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgcctccttagcttTccgcttcttatgctcgatgt	10	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:136279819T>C	uc004cdm.2	-	2	738	c.538A>G	c.(538-540)AAA>GAA	p.K180E	ADAMTS13_uc004cdp.3_Intron|REXO4_uc011mde.1_Missense_Mutation_p.K43E|REXO4_uc011mdf.1_Missense_Mutation_p.K43E|REXO4_uc004cdn.2_Intron|REXO4_uc004cdo.2_Silent_p.G120G	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog	180						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TCCTTAGCTTTCCGCTTCTTA	0.537													C	136279819	T	C	136279819	3	2	189	1	0	0	0	0	1	0	0	0	13243	1792	62	3	758	3	REXO4	9	136279819	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	294007	136279819	4933612	2531	100388											
ADAMTS13	11093	broad.mit.edu	37	chr9	136304555	136304555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaccacaggcctctcTtcacacacttgggtgagttg	9	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:136304555T>C	uc004cdv.3	+	15	2218	c.1774T>C	c.(1774-1776)TTC>CTC	p.F592L	ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.F592L|ADAMTS13_uc004cdu.1_Missense_Mutation_p.F561L|ADAMTS13_uc004cdw.3_Missense_Mutation_p.F592L|ADAMTS13_uc004cdx.3_Missense_Mutation_p.F561L|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.F262L|ADAMTS13_uc004cds.1_Missense_Mutation_p.F117L|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	592	Spacer.				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)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAGGCCTCTCTTCACACACTT	0.343													C	136304555	T	C	136304555	3	2	189	1	0	0	0	0	1	0	0	0	258	1609	56	3	1832	3	ADAMTS13	9	136304555	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	24736	136304555	4908876	2532	100389											
TMEM8C	389827	broad.mit.edu	37	chr9	136384051	136384051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcccgagtacaccccgTagccccatcggtcatggtag	13	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:136384051T>C	uc011mdk.1	-	3	344	c.344A>G	c.(343-345)TAC>TGC	p.Y115C		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	115	Helical; (Potential).					integral to membrane					0						GTACACCCCGTAGCCCCATCG	0.622													C	136384051	T	C	136384051	3	2	189	1	0	0	0	0	1	0	0	0	16213	1638	57	3	333	3	TMEM8C	9	136384051	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	79496	136384051	4829380	2533	100390											
VAV2	7410	broad.mit.edu	37	chr9	136641200	136641200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcggccggctgatgggCggctggtggcagagcacaag	20	9	0	2	rs150295787		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:136641200C>T	uc004ces.2	-	24	2014	c.1968G>A	c.(1966-1968)CCG>CCA	p.P656P	VAV2_uc004cer.2_Silent_p.P646P|VAV2_uc004cet.1_Silent_p.P195P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	656					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			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617													T	136641200	C	T	136641200	2	4	189	1	0	0	0	0	0	0	0	1	17129	755	27	1		1	VAV2	9	136641200	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	257149	136641200	4572231	2534	100391											
VAV2	7410	broad.mit.edu	37	chr9	136674187	136674187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcctccagggtgcggTagtacttggcctcggtctcc	12	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:136674187T>C	uc004ces.2	-	7	687	c.641A>G	c.(640-642)TAC>TGC	p.Y214C	VAV2_uc004cer.2_Missense_Mutation_p.Y209C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	214	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			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGGGTGCGGTAGTACTTGGC	0.587													C	136674187	T	C	136674187	3	2	189	1	0	0	0	0	1	0	0	0	17129	1638	57	3	2091	3	VAV2	9	136674187	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	32987	136674187	4539244	2535	100392											
BRD3	8019	broad.mit.edu	37	chr9	136917441	136917441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccttgttataaatgTaacaatttgtaaacatggtg	6	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:136917441T>C	uc004cew.2	-	3	526	c.338A>G	c.(337-339)TAC>TGC	p.Y113C	BRD3_uc004cex.2_Missense_Mutation_p.Y113C	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	113	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GTTATAAATGTAACAATTTGT	0.468			T	NUT|C15orf55	lethal midline carcinoma of young people								C	136917441	T	C	136917441	3	2	189	1	0	0	0	0	1	0	0	0	1503	1638	57	3	1882	3	BRD3	9	136917441	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	243254	136917441	4295990	2536	100393											
KIAA0649	9858	broad.mit.edu	37	chr9	138376588	138376588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccacagggcagagggaTgccacgacgccaggccggct	18	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:138376588T>C	uc004cfr.1	+	4	781	c.232T>C	c.(232-234)TGC>CGC	p.C78R		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	78						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		GGCAGAGGGATGCCACGACGC	0.687													C	138376588	T	C	138376588	3	2	189	1	0	0	0	0	1	0	0	0	8187	1464	51	3	234	3	KIAA0649	9	138376588	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1459147	138376588	2836843	2537	100394											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713266	138713267	+	Frame_Shift_Del	DEL	GA	GA	-													gtggccagccacgcccgtggGagagagtggctccacgaagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:138713265_138713266GGA>G	uc004cgr.4	-	10	3241_3242	c.3241_3242TCC>C	c.(3241-3243)cccfs	p.P1081fs	CAMSAP1_uc004cgq.4_Frame_Shift_Del_p.P971fs|CAMSAP1_uc010nbg.3_Frame_Shift_Del_p.P803fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1081						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)		CACGCCCGTGGGAGAGAGTGGC	0.624													-	138713267	GA	-	138713266	7	5	189	1	0	1	0	1	0	0	0	0	2611	1174	41	0	1595	0	CAMSAP1	9	138713266	Frame_Shift_Del	DEL	GA	TCGA-CG-5721-01A-11D-1600-08	336678	138713266	2500165	2538	100395											
LHX3	8022	broad.mit.edu	37	chr9	139092558	139092558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccttgaggatgaagcGgtccaggatgtgctggtcac	15	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139092558G>A	uc004cha.2	-	2	218	c.121C>T	c.(121-123)CGC>TGC	p.R41C	LHX3_uc004cgz.2_Missense_Mutation_p.R46C	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	41	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			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		AGGATGAAGCGGTCCAGGATG	0.627													A	139092558	G	A	139092558	3	1	189	1	0	0	0	0	1	0	0	0	8772	1116	39	1	1092	1	LHX3	9	139092558	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	379292	139092558	2120873	2539	100396											
PMPCA	23203	broad.mit.edu	37	chr9	139313291	139313291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccaggcaccactggaTgtataacgcgacctcctacc	7	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139313291T>C	uc004chl.2	+	10	1126	c.1121T>C	c.(1120-1122)ATG>ACG	p.M374T	PMPCA_uc010nbl.2_Missense_Mutation_p.M274T|PMPCA_uc011mdz.1_Missense_Mutation_p.M243T|PMPCA_uc004chm.1_Missense_Mutation_p.M124T|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	374					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CACCACTGGATGTATAACGCG	0.612													C	139313291	T	C	139313291	3	2	189	1	0	0	0	0	1	0	0	0	12140	1464	51	3	1159	3	PMPCA	9	139313291	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	220733	139313291	1900140	2540	100397											
SEC16A	9919	broad.mit.edu	37	chr9	139370019	139370019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcatgtgcacagcttcCgtggtggagttaagaggcag	16	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139370019C>T	uc004chx.2	-	3	2358	c.2049G>A	c.(2047-2049)ACG>ACA	p.T683T	SEC16A_uc004chv.3_Silent_p.T310T|SEC16A_uc004chw.2_Silent_p.T683T|SEC16A_uc010nbn.2_Silent_p.T683T|SEC16A_uc010nbo.1_Silent_p.T683T	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	505					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACAGCTTCCGTGGTGGAGT	0.637													T	139370019	C	T	139370019	2	4	189	1	0	0	0	0	0	0	0	1	13986	639	23	1		1	SEC16A	9	139370019	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	56728	139370019	1843412	2541	100398											
SEC16A	9919	broad.mit.edu	37	chr9	139370931	139370931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctcattttctgtctcTcccccttggaaaaacatcgc	4	15	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139370931T>C	uc004chx.2	-	3	1446	c.1137A>G	c.(1135-1137)GGA>GGG	p.G379G	SEC16A_uc004chv.3_Silent_p.G6G|SEC16A_uc004chw.2_Silent_p.G379G|SEC16A_uc010nbn.2_Silent_p.G379G|SEC16A_uc010nbo.1_Silent_p.G379G	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	201					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTCTGTCTCTCCCCCTTGGA	0.582													C	139370931	T	C	139370931	2	2	189	1	0	0	0	0	0	0	0	1	13986	1538	54	3		3	SEC16A	9	139370931	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	912	139370931	1842500	2542	100399											
MAMDC4	158056	broad.mit.edu	37	chr9	139752975	139752975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacccccagccccctgtggAccacaccctgggcacagagg	10	18	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139752975A>G	uc004cjs.2	+	22	2848	c.2798A>G	c.(2797-2799)GAC>GGC	p.D933G	MAMDC4_uc011mej.1_Missense_Mutation_p.D270G	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1012	Extracellular (Potential).|MAM 6.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		CCCCCTGTGGACCACACCCTG	0.701													G	139752975	A	G	139752975	3	3	189	1	0	0	0	0	1	0	0	0	9204	275	10	3	2884	3	MAMDC4	9	139752975	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	382044	139752975	1460456	2543	100400											
TRAF2	7186	broad.mit.edu	37	chr9	139814796	139814796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgggagaccagagccaCgcggggtcagagctcctgca	14	13	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139814796C>T	uc010nbu.2	+	9	962	c.789C>T	c.(787-789)CAC>CAT	p.H263H	TRAF2_uc004cjv.2_Silent_p.H263H|TRAF2_uc011mek.1_Silent_p.H252H|TRAF2_uc010nbw.2_Silent_p.H238H	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	263				Missing (in Ref. 2; BAB70792).	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			ovary(1)|lung(1)|breast(1)|skin(1)	4	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)		ACCAGAGCCACGCGGGGTCAG	0.622													T	139814796	C	T	139814796	2	4	189	1	0	0	0	0	0	0	0	1	16435	535	19	1		1	TRAF2	9	139814796	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61821	139814796	1398635	2544	100401											
ABCA2	20	broad.mit.edu	37	chr9	139911421	139911421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgccatagaccacggcGtccaccatcagcatggtgac	11	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139911421G>A	uc011mem.1	-	18	2854	c.2706C>T	c.(2704-2706)GAC>GAT	p.D902D	ABCA2_uc011mel.1_Silent_p.D903D|ABCA2_uc004ckl.1_Silent_p.D833D|ABCA2_uc004ckm.1_Silent_p.D933D|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	902	Helical; (Potential).				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				0	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)		AGACCACGGCGTCCACCATCA	0.652													A	139911421	G	A	139911421	2	1	189	1	0	0	0	0	0	0	0	1	32	1136	40	1		1	ABCA2	9	139911421	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	96625	139911421	1302010	2545	100402											
ABCA2	20	broad.mit.edu	37	chr9	139912270	139912270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctccttctccgccacgAtgtgctggatggtcatggcc	13	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139912270A>G	uc011mem.1	-	15	2325	c.2177T>C	c.(2176-2178)ATC>ACC	p.I726T	ABCA2_uc011mel.1_Missense_Mutation_p.I727T|ABCA2_uc004ckl.1_Missense_Mutation_p.I657T|ABCA2_uc004ckm.1_Missense_Mutation_p.I757T|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	726					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				0	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)		CTCCGCCACGATGTGCTGGAT	0.687													G	139912270	A	G	139912270	3	3	189	1	0	0	0	0	1	0	0	0	32	333	12	3	5266	3	ABCA2	9	139912270	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	849	139912270	1301161	2546	100403											
UAP1L1	91373	broad.mit.edu	37	chr9	139972986	139972986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagttcactctggggcCcacggccgagttcttcaggg	14	13	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:139972986C>A	uc010ncb.2	+	3	559	c.527C>A	c.(526-528)CCC>CAC	p.P176H	UAP1L1_uc004cla.3_Missense_Mutation_p.P53H	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	176							nucleotidyltransferase activity			ovary(1)	1	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)		ACTCTGGGGCCCACGGCCGAG	0.652													A	139972986	C	A	139972986	3	1	189	1	0	0	0	0	1	0	0	0	16823	623	22	5	537	5	UAP1L1	9	139972986	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	60716	139972986	1240445	2547	100404											
TPRN	286262	broad.mit.edu	37	chr9	140086680	140086680	+	Frame_Shift_Del	DEL	C	C	-													gctcgcccgggtgtcagactCcccccagcgctccactcccc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140086679_140086679TC>T	uc004clt.3	-	2	2105	c.2105_2105GA>A	c.(2104-2106)gagfs	p.E702fs	TPRN_uc004clu.3_Intron	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	691					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGTGTCAGACTCCCCCCAGCG	0.667													-	140086680	C	-	140086680	7	5	189	1	0	1	0	1	0	0	0	0	16418	864	30	0	119	0	TPRN	9	140086680	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	113694	140086680	1126751	2548	100405											
NDOR1	27158	broad.mit.edu	37	chr9	140110800	140110800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggtggactctgcagcCcggacgcagccgcgtatcta	15	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140110800C>T	uc004clw.2	+	14	1837	c.1726C>T	c.(1726-1728)CCG>TCG	p.P576S	NDOR1_uc004clx.2_Missense_Mutation_p.P585S|NDOR1_uc011mes.1_Missense_Mutation_p.P569S|NDOR1_uc004cly.2_3'UTR	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	576					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				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTCTGCAGCCCGGACGCAGC	0.672													T	140110800	C	T	140110800	3	4	189	1	0	0	0	0	1	0	0	0	10249	623	22	4	1807	4	NDOR1	9	140110800	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	24120	140110800	1102631	2549	100406											
TUBB2C	10383	broad.mit.edu	37	chr9	140136267	140136267	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgcatcaacgtgtactAcaatgaggccaccggtgagg	13	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140136267A>G	uc004cmh.1	+	2	254	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	TUBB2C_uc004cmg.1_5'UTR	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	51					'de novo' posttranslational protein folding|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|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AACGTGTACTACAATGAGGCC	0.692													G	140136267	A	G	140136267	3	3	189	1	0	0	0	0	1	0	0	0	16753	391	14	3	158	3	TUBB2C	9	140136267	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	25467	140136267	1077164	2550	100407											
NOXA1	10811	broad.mit.edu	37	chr9	140328738	140328738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttccccaagtgcttcGtggtccccgccggccctcgg	11	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140328738G>A	uc004cmv.2	+	14	1492	c.1357G>A	c.(1357-1359)GTG>ATG	p.V453M	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Missense_Mutation_p.V460M|NOXA1_uc010nch.2_Missense_Mutation_p.V404M	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	453	SH3.		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CAAGTGCTTCGTGGTCCCCGC	0.647													A	140328738	G	A	140328738	3	1	189	1	0	0	0	0	1	0	0	0	10560	1145	40	1	1432	1	NOXA1	9	140328738	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	192471	140328738	884693	2551	100408											
ENTPD8	377841	broad.mit.edu	37	chr9	140329696	140329696	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaggtctcctcgctgAacccgtagccctcgtgcagg	13	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140329696A>C	uc004cmw.2	-	9	1440	c.1256T>G	c.(1255-1257)TTC>TGC	p.F419C	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.F382C	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	419	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTCCTCGCTGAACCCGTAGCC	0.697													C	140329696	A	C	140329696	3	2	189	1	0	0	0	0	1	0	0	0	5145	246	9	5	239	5	ENTPD8	9	140329696	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	958	140329696	883735	2552	100409											
ARRDC1	92714	broad.mit.edu	37	chr9	140508787	140508787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcgctggatccacgacGtacggaccattgcggaggtg	14	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140508787G>A	uc004cns.2	+	6	729	c.655G>A	c.(655-657)GTA>ATA	p.V219I	ARRDC1_uc004cnt.2_Missense_Mutation_p.V94I|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.V199I|ARRDC1_uc004cnw.2_Missense_Mutation_p.V94I|ARRDC1_uc004cnp.1_Missense_Mutation_p.V219I|ARRDC1_uc004cnq.1_Missense_Mutation_p.V201I|ARRDC1_uc011mfb.1_Missense_Mutation_p.V94I|ARRDC1_uc004cnx.1_Missense_Mutation_p.V94I|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	219											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GATCCACGACGTACGGACCAT	0.687													A	140508787	G	A	140508787	3	1	189	1	0	0	0	0	1	0	0	0	982	1145	40	1	677	1	ARRDC1	9	140508787	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	179091	140508787	704644	2553	100410											
EHMT1	79813	broad.mit.edu	37	chr9	140685319	140685319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcgctaatattgacaCctgctcagaagaccagagga	13	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140685319C>T	uc011mfc.1	+	16	2439	c.2402C>T	c.(2401-2403)ACC>ATC	p.T801I	EHMT1_uc004cob.1_Missense_Mutation_p.T770I	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	801	ANK 2.				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)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AATATTGACACCTGCTCAGAA	0.557													T	140685319	C	T	140685319	3	4	189	1	0	0	0	0	1	0	0	0	4983	507	18	4	2513	4	EHMT1	9	140685319	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	176532	140685319	528112	2554	100411											
CACNA1B	774	broad.mit.edu	37	chr9	140968057	140968057	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtccagtccttcaagGtgggccaggcggggggcctc	15	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr9:140968057G>A	uc004cog.2	+	32	4936	c.4791_splice	c.e32+1	p.K1597_splice	CACNA1B_uc004coi.2_Splice_Site_p.K809_splice|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTTCAAGGTGGGCCAGGC	0.652													A	140968057	G	A	140968057	5	1	189	1	0	0	0	0	0	0	1	0	2539	1275	44	4	4918	4	CACNA1B	9	140968057	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	282738	140968057	245374	2555	100412											
DIP2C	22982	broad.mit.edu	37	chr10	395363	395363	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcagctctcttgtgcagcTgcacgcaggtcagcgagttc	11	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:395363T>A	uc001ifp.2	-	25	3107	c.3017A>T	c.(3016-3018)CAG>CTG	p.Q1006L	DIP2C_uc009xhi.1_Missense_Mutation_p.Q392L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1006						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		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)		CTTGTGCAGCTGCACGCAGGT	0.602													A	395363	T	A	395363	3	1	189	1	0	0	0	0	1	0	0	0	4529	1580	55	5	1705	5	DIP2C	10	395363	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08		395363	135139384	2556	100413											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	189	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	495576	890939	134643808	2557	100414											
IDI2	91734	broad.mit.edu	37	chr10	1065556	1065556	+	Frame_Shift_Del	DEL	G	G	-													tcggcaatggttcttagccaGggggtgactttgacttcacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:1065555_1065555AG>A	uc001ifv.1	-	4	651	c.586_586CT>T	c.(586-588)tggfs	p.W196fs		NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	196	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)		GTTCTTAGCCAGGGGGTGACT	0.567													-	1065556	G	-	1065556	7	5	189	1	0	1	0	1	0	0	0	0	7500	987	35	0	102	0	IDI2	10	1065556	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	174617	1065556	134469191	2558	100415											
PITRM1	10531	broad.mit.edu	37	chr10	3199640	3199640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttactgatgtcagcatcAgcccaaagctggtagactga	9	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:3199640A>G	uc010qah.1	-	11	1270	c.1238T>C	c.(1237-1239)CTG>CCG	p.L413P	PITRM1_uc001igr.1_Missense_Mutation_p.L445P|PITRM1_uc001igt.1_Missense_Mutation_p.L445P|PITRM1_uc009xhv.1_Missense_Mutation_p.L10P|PITRM1_uc001igu.1_Missense_Mutation_p.L437P|PITRM1_uc010qai.1_Missense_Mutation_p.L416P|PITRM1_uc001igw.1_Missense_Mutation_p.L445P			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	413					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						TGTCAGCATCAGCCCAAAGCT	0.308													G	3199640	A	G	3199640	3	3	189	1	0	0	0	0	1	0	0	0	11953	188	7	3	1843	3	PITRM1	10	3199640	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2134084	3199640	132335107	2559	100416											
KLF6	1316	broad.mit.edu	37	chr10	3821740	3821740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgctccctcagaggtgCctcttcatgtgcagggccag	11	14	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:3821740C>T	uc001iha.2	-	4	1110	c.843G>A	c.(841-843)AGG>AGA	p.R281R	KLF6_uc010qaj.1_3'UTR|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Silent_p.R239R	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	281	C2H2-type 3.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		CTCAGAGGTGCCTCTTCATGT	0.562													T	3821740	C	T	3821740	2	4	189	1	0	0	0	0	0	0	0	1	8350	738	26	2		2	KLF6	10	3821740	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	622100	3821740	131713007	2560	100417											
NET1	10276	broad.mit.edu	37	chr10	5498073	5498073	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttacattttcctgtttcaAgacatcttggttctgactcg	6	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:5498073A>G	uc001iia.2	+	11	1359	c.1221A>G	c.(1219-1221)CAA>CAG	p.Q407Q	NET1_uc010qar.1_Silent_p.Q226Q|NET1_uc001iib.2_Silent_p.Q353Q|NET1_uc010qas.1_Silent_p.Q226Q	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	407	PH.				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(1)	1						TCCTGTTTCAAGACATCTTGG	0.433													G	5498073	A	G	5498073	2	3	189	1	0	0	0	0	0	0	0	1	10338	69	3	3		3	NET1	10	5498073	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1676333	5498073	130036674	2561	100418											
CALML5	51806	broad.mit.edu	37	chr10	5541219	5541219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaagctgatttcgccGtcgccgtcgctgtcaacctc	10	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:5541219G>A	uc001iic.2	-	1	315	c.183C>T	c.(181-183)GAC>GAT	p.D61D		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	61	EF-hand 2.|2 (Potential).				epidermis development|signal transduction		calcium ion binding|protein binding				0						TGATTTCGCCGTCGCCGTCGC	0.662													A	5541219	G	A	5541219	2	1	189	1	0	0	0	0	0	0	0	1	2589	1136	40	1		1	CALML5	10	5541219	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	43146	5541219	129993528	2562	100419											
CALML3	810	broad.mit.edu	37	chr10	5567441	5567441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatccgggccgcggacacGgacggagacggacaggtgaa	17	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:5567441G>A	uc001iie.1	+	1	518	c.393G>A	c.(391-393)ACG>ACA	p.T131T	uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	calmodulin-like 3	131	4.|EF-hand 4.						calcium ion binding				0						CCGCGGACACGGACGGAGACG	0.677													A	5567441	G	A	5567441	2	1	189	1	0	0	0	0	0	0	0	1	2587	1103	39	1		1	CALML3	10	5567441	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	26222	5567441	129967306	2563	100420											
ITIH5	80760	broad.mit.edu	37	chr10	7682799	7682799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtaatttcgccctgatAcaccttgtctccaataagcc	5	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:7682799A>G	uc001ijq.2	-	4	398	c.319T>C	c.(319-321)TAT>CAT	p.Y107H	ITIH5_uc001ijr.1_Missense_Mutation_p.Y107H	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	107	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TCGCCCTGATACACCTTGTCT	0.388													G	7682799	A	G	7682799	3	3	189	1	0	0	0	0	1	0	0	0	7907	391	14	3	2690	3	ITIH5	10	7682799	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2115358	7682799	127851948	2564	100421											
ITIH5	80760	broad.mit.edu	37	chr10	7683905	7683905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacatagtgaagttggtgAtgaaagctgcagctggaatc	12	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:7683905A>G	uc001ijq.2	-	3	363	c.284T>C	c.(283-285)ATC>ACC	p.I95T	ITIH5_uc001ijr.1_Missense_Mutation_p.I95T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	95	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GAAGTTGGTGATGAAAGCTGC	0.507													G	7683905	A	G	7683905	3	3	189	1	0	0	0	0	1	0	0	0	7907	333	12	3	2729	3	ITIH5	10	7683905	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1106	7683905	127850842	2565	100422											
TAF3	83860	broad.mit.edu	37	chr10	7866512	7866512	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttacctgccacccattgtgtCttctcaagaaggtttgtgag	9	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:7866512C>T	uc010qbd.1	+	2	398	c.398C>T	c.(397-399)TCT>TTT	p.S133F		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	133					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			ovary(1)	1						CCCATTGTGTCTTCTCAAGAA	0.353													T	7866512	C	T	7866512	3	4	189	1	0	0	0	0	1	0	0	0	15522	913	32	4	404	4	TAF3	10	7866512	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	182607	7866512	127668235	2566	100423											
TAF3	83860	broad.mit.edu	37	chr10	8006770	8006770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggcccggagtgtactActcccaaagcttccacttcc	7	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:8006770A>G	uc010qbd.1	+	3	1297	c.1297A>G	c.(1297-1299)ACT>GCT	p.T433A		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	433					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			ovary(1)	1						GGAGTGTACTACTCCCAAAGC	0.473													G	8006770	A	G	8006770	3	3	189	1	0	0	0	0	1	0	0	0	15522	391	14	3	1307	3	TAF3	10	8006770	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	140258	8006770	127527977	2567	100424											
TAF3	83860	broad.mit.edu	37	chr10	8007187	8007187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaaactggcagggaaAcaaagtatccctggaaggaa	12	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:8007187A>G	uc010qbd.1	+	3	1714	c.1714A>G	c.(1714-1716)ACA>GCA	p.T572A		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	572	Lys-rich.				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			ovary(1)	1						TGGCAGGGAAACAAAGTATCC	0.209													G	8007187	A	G	8007187	3	3	189	1	0	0	0	0	1	0	0	0	15522	43	2	3	1724	3	TAF3	10	8007187	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	417	8007187	127527560	2568	100425											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	189	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	5689265	13696452	121838295	2569	100426											
NMT2	9397	broad.mit.edu	37	chr10	15154898	15154898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctcttgtgagcagggTggtgcatcaccgtggagggg	19	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:15154898T>C	uc001inz.1	-	10	1319	c.1235A>G	c.(1234-1236)CAC>CGC	p.H412R	NMT2_uc001ioa.1_Missense_Mutation_p.H399R|NMT2_uc009xjo.1_Missense_Mutation_p.H412R|NMT2_uc010qbz.1_Missense_Mutation_p.H224R	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	412					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						GTGAGCAGGGTGGTGCATCAC	0.542													C	15154898	T	C	15154898	3	2	189	1	0	0	0	0	1	0	0	0	10504	1696	59	3	273	3	NMT2	10	15154898	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1458446	15154898	120379849	2570	100427											
FAM171A1	221061	broad.mit.edu	37	chr10	15255063	15255063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctggctccgagggggCatccgcagtccgtctggtcg	17	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:15255063C>T	uc001iob.2	-	8	2531	c.2524G>A	c.(2524-2526)GCC>ACC	p.A842T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	842	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TCCGAGGGGGCATCCGCAGTC	0.617													T	15255063	C	T	15255063	3	4	189	1	0	0	0	0	1	0	0	0	5490	710	25	2	152	2	FAM171A1	10	15255063	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	100165	15255063	120279684	2571	100428											
CUBN	8029	broad.mit.edu	37	chr10	16994323	16994323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagttctgattgtttggatAattggcagggaaccgtggag	15	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:16994323A>G	uc001ioo.2	-	33	4973	c.4921T>C	c.(4921-4923)TAT>CAT	p.Y1641H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1641	CUB 11.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTGGATAATTGGCAGGG	0.463													G	16994323	A	G	16994323	3	3	189	1	0	0	0	0	1	0	0	0	4051	362	13	3	6090	3	CUBN	10	16994323	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1739260	16994323	118540424	2572	100429											
CACNB2	783	broad.mit.edu	37	chr10	18823131	18823131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttggcccctattatagTatatgtaaagatttcttctc	5	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:18823131T>C	uc001ipr.2	+	11	1241	c.1181T>C	c.(1180-1182)GTA>GCA	p.V394A	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.V370A|CACNB2_uc001ipt.2_Missense_Mutation_p.V356A|CACNB2_uc001ipu.2_Missense_Mutation_p.V366A|CACNB2_uc001ipv.2_Missense_Mutation_p.V342A|CACNB2_uc009xka.1_Missense_Mutation_p.V328A|CACNB2_uc001ipw.2_Missense_Mutation_p.V301A|CACNB2_uc001ipx.2_Missense_Mutation_p.V339A|CACNB2_uc001ipz.2_Missense_Mutation_p.V316A|CACNB2_uc001ipy.2_Missense_Mutation_p.V340A|CACNB2_uc010qco.1_Missense_Mutation_p.V308A|CACNB2_uc001iqa.2_Missense_Mutation_p.V346A|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	394					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTATTATAGTATATGTAAAG	0.353													C	18823131	T	C	18823131	3	2	189	1	0	0	0	0	1	0	0	0	2553	1638	57	3	1533	3	CACNB2	10	18823131	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1828808	18823131	116711616	2573	100430											
C10orf113	387638	broad.mit.edu	37	chr10	21414839	21414839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccatgcttccctttggtTataccttctggtcccagaga	7	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:21414839T>C	uc001iqm.2	-	2	371	c.351A>G	c.(349-351)ATA>ATG	p.I117M	NEBL_uc001iqk.2_Intron	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	hypothetical protein LOC387638	127										ovary(3)|pancreas(1)	4						TCCCTTTGGTTATACCTTCTG	0.468													C	21414839	T	C	21414839	3	2	189	1	0	0	0	0	1	0	0	0	1584	1744	61	3	90	3	C10orf113	10	21414839	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2591708	21414839	114119908	2574	100431											
MLLT10	8028	broad.mit.edu	37	chr10	21962452	21962452	+	Frame_Shift_Del	DEL	G	G	-													gagagtctggaagccaggaaGggggggtaaatagttttagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:21962451_21962451AG>A	uc021pny.1	+	9	1224	c.1224_1224AG>A	c.(1222-1224)gaafs	p.E408fs	MLLT10_uc001iqs.3_Frame_Shift_Del_p.E408fs|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Frame_Shift_Del_p.E408fs|MLLT10_uc001ira.3_Intron|MLLT10_uc001irb.3_5'Flank	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	408	DNA-binding.				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	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAA	0.438			T	"MLL, PICALM, CDK6"	AL								-	21962452	G	-	21962452	7	5	189	1	0	1	0	1	0	0	0	0	9626	1000	35	0	1263	0	MLLT10	10	21962452	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	547613	21962452	113572295	2575	100432											
DNAJC1	64215	broad.mit.edu	37	chr10	22208818	22208818	+	Frame_Shift_Del	DEL	T	T	-													ccacactcttgctgccagtcTtttttttcttttctctcttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:22208817_22208817CT>C	uc001irc.3	-	4	866	c.579_579AG>G	c.(577-579)aagfs	p.K193fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	193					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)				TGCTGCCAGTCTTTTTTTTCT	0.303													-	22208818	T	-	22208818	7	5	189	1	0	1	0	1	0	0	0	0	4628	1609	56	0	1118	0	DNAJC1	10	22208818	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	246366	22208818	113325929	2576	100433											
PIP4K2A	5305	broad.mit.edu	37	chr10	23003192	23003192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttctgcgctacgaagtGcttcttcttggtcttggtct	9	11	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:23003192G>A	uc001irl.3	-	1	312	c.64C>T	c.(64-66)CAC>TAC	p.H22Y		NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	22							1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						GCTACGAAGTGCTTCTTCTTG	0.642													A	23003192	G	A	23003192	3	1	189	1	0	0	0	0	1	0	0	0	11936	1319	46	2	1196	2	PIP4K2A	10	23003192	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	794374	23003192	112531555	2577	100434											
THNSL1	79896	broad.mit.edu	37	chr10	25314110	25314110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtggttgcagatagggTgcaagacaaaacttgccctg	12	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:25314110T>C	uc001isi.3	+	3	2287	c.1958T>C	c.(1957-1959)GTG>GCG	p.V653A	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	653					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GCAGATAGGGTGCAAGACAAA	0.418													C	25314110	T	C	25314110	3	2	189	1	0	0	0	0	1	0	0	0	15859	1696	59	3	1960	3	THNSL1	10	25314110	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2310918	25314110	110220637	2578	100435											
GPR158	57512	broad.mit.edu	37	chr10	25861658	25861658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgaggatgctggcagTaatactcttggtagtgtttt	13	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:25861658T>C	uc001isj.2	+	7	1655	c.1595T>C	c.(1594-1596)GTA>GCA	p.V532A		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	532	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ATGCTGGCAGTAATACTCTTG	0.438													C	25861658	T	C	25861658	3	2	189	1	0	0	0	0	1	0	0	0	6663	1638	57	3	1621	3	GPR158	10	25861658	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	547548	25861658	109673089	2579	100436											
GPR158	57512	broad.mit.edu	37	chr10	25887184	25887184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagtcggtgccgttggtgTgcaagtcagcaagcgctcac	15	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:25887184T>C	uc001isj.2	+	11	2689	c.2629T>C	c.(2629-2631)TGC>CGC	p.C877R	GPR158_uc001isk.2_Missense_Mutation_p.C252R	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	877	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GCCGTTGGTGTGCAAGTCAGC	0.488													C	25887184	T	C	25887184	3	2	189	1	0	0	0	0	1	0	0	0	6663	1696	59	3	2671	3	GPR158	10	25887184	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	25526	25887184	109647563	2580	100437											
GPR158	57512	broad.mit.edu	37	chr10	25887343	25887343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtggaagaacgcactAaatcccagaaacctttgcca	9	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:25887343A>G	uc001isj.2	+	11	2848	c.2788A>G	c.(2788-2790)AAA>GAA	p.K930E	GPR158_uc001isk.2_Missense_Mutation_p.K305E	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	930	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AGAACGCACTAAATCCCAGAA	0.433													G	25887343	A	G	25887343	3	3	189	1	0	0	0	0	1	0	0	0	6663	363	13	3	2830	3	GPR158	10	25887343	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	159	25887343	109647404	2581	100438											
GPR158	57512	broad.mit.edu	37	chr10	25887641	25887641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaagttcaaaagcacgTatctattgtggcttctgaaa	7	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:25887641T>C	uc001isj.2	+	11	3146	c.3086T>C	c.(3085-3087)GTA>GCA	p.V1029A	GPR158_uc001isk.2_Missense_Mutation_p.V404A	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1029	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CAAAAGCACGTATCTATTGTG	0.453													C	25887641	T	C	25887641	3	2	189	1	0	0	0	0	1	0	0	0	6663	1638	57	3	3128	3	GPR158	10	25887641	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	298	25887641	109647106	2582	100439											
ANKRD26	22852	broad.mit.edu	37	chr10	27306695	27306695	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agacattttgaacctgcagtCtccagttctgctgtaagatc	8	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:27306695C>G	uc001ith.2	-	30	4411	c.4239G>C	c.(4237-4239)GAG>GAC	p.E1413D	ANKRD26_uc001itg.2_Missense_Mutation_p.E1100D|ANKRD26_uc009xku.1_Missense_Mutation_p.E1414D	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1413	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						AACCTGCAGTCTCCAGTTCTG	0.338													G	27306695	C	G	27306695	3	3	189	1	0	0	0	0	1	0	0	0	654	912	32	5	910	5	ANKRD26	10	27306695	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1419054	27306695	108228052	2583	100440											
ANKRD26	22852	broad.mit.edu	37	chr10	27382687	27382687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaccaggagagttactActtctggatgaccattggca	10	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:27382687A>G	uc001ith.2	-	2	456	c.284T>C	c.(283-285)GTA>GCA	p.V95A	ANKRD26_uc009xku.1_Missense_Mutation_p.V95A	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	95	ANK 2.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						GAGAGTTACTACTTCTGGATG	0.443													G	27382687	A	G	27382687	3	3	189	1	0	0	0	0	1	0	0	0	654	391	14	3	4980	3	ANKRD26	10	27382687	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	75992	27382687	108152060	2584	100441											
MASTL	84930	broad.mit.edu	37	chr10	27454351	27454351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaaaaatcaagaccctGcaaacatcctttcagcctgt	5	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:27454351G>A	uc001itm.2	+	6	1333	c.694G>A	c.(694-696)GCA>ACA	p.A232T	MASTL_uc001itl.2_Missense_Mutation_p.A232T|MASTL_uc009xkw.1_Missense_Mutation_p.A232T|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	232	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						TCAAGACCCTGCAAACATCCT	0.393													A	27454351	G	A	27454351	3	1	189	1	0	0	0	0	1	0	0	0	9328	1319	46	2	716	2	MASTL	10	27454351	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	71664	27454351	108080396	2585	100442											
PTCHD3	374308	broad.mit.edu	37	chr10	27687296	27687296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccccgggaagaaatgAtttcatttgatgaagaaata	10	5	1	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:27687296A>T	uc001itu.2	-	4	2349	c.2231T>A	c.(2230-2232)ATC>AAC	p.I744N		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	744					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GGAAGAAATGATTTCATTTGA	0.313													T	27687296	A	T	27687296	3	4	189	1	0	0	0	0	1	0	0	0	12734	333	12	5	76	5	PTCHD3	10	27687296	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	232945	27687296	107847451	2586	100443											
MPP7	143098	broad.mit.edu	37	chr10	28358700	28358700	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgagtagcgcagaactcaCggggcactgtcacgccatag	12	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:28358700C>T	uc001iua.1	-	15	1608	c.1204_splice	c.e15+1	p.H402_splice	MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.H402_splice|MPP7_uc009xla.2_Splice_Site_p.H402_splice|MPP7_uc010qdv.1_Splice_Site	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7						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			ovary(1)	1						GCAGAACTCACGGGGCACTGT	0.378													T	28358700	C	T	28358700	5	4	189	1	0	0	0	0	0	0	1	0	9739	550	19	1	545	1	MPP7	10	28358700	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	671404	28358700	107176047	2587	100444											
WAC	51322	broad.mit.edu	37	chr10	28897190	28897190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctctggactgaaccCcacatctgcacctccaacat	5	17	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:28897190C>T	uc001iuf.2	+	8	1080	c.995C>T	c.(994-996)CCC>CTC	p.P332L	WAC_uc001iud.2_Missense_Mutation_p.P287L|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.P287L|WAC_uc001iug.2_Missense_Mutation_p.P229L|WAC_uc001iuh.2_Missense_Mutation_p.P287L	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	332					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			large_intestine(1)|ovary(1)	2						GGACTGAACCCCACATCTGCA	0.468													T	28897190	C	T	28897190	3	4	189	1	0	0	0	0	1	0	0	0	17244	623	22	4	1025	4	WAC	10	28897190	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	538490	28897190	106637557	2588	100445											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					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)				TGCACCACCATCCCCCCCTGG	0.527													-	29760116	C	-	29760116	7	5	189	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	862926	29760116	105774631	2589	100446											
KIAA1462	57608	broad.mit.edu	37	chr10	30316194	30316194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtccattccgttgctAacctccaggtgtctcttctc	7	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:30316194A>G	uc001iux.2	-	2	2942	c.2883T>C	c.(2881-2883)GTT>GTC	p.V961V	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.V823V|KIAA1462_uc009xle.1_Silent_p.V961V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	961										ovary(4)	4						TTCCGTTGCTAACCTCCAGGT	0.577													G	30316194	A	G	30316194	2	3	189	1	0	0	0	0	0	0	0	1	8234	349	13	3		3	KIAA1462	10	30316194	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	556078	30316194	105218553	2590	100447											
KIAA1462	57608	broad.mit.edu	37	chr10	30317740	30317740	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgatttatcgtcaagctttAtgtcttcacagaaaccctgg	7	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:30317740A>T	uc001iux.2	-	2	1396	c.1337T>A	c.(1336-1338)ATA>AAA	p.I446K	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.I308K|KIAA1462_uc009xle.1_Missense_Mutation_p.I446K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	446										ovary(4)	4						GTCAAGCTTTATGTCTTCACA	0.483													T	30317740	A	T	30317740	3	4	189	1	0	0	0	0	1	0	0	0	8234	449	16	5	2750	5	KIAA1462	10	30317740	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1546	30317740	105217007	2591	100448											
ZNF438	220929	broad.mit.edu	37	chr10	31134202	31134202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagctgccttttcagTcttggacatgcatgtgattc	12	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:31134202T>C	uc010qdz.1	-	8	2610	c.2175A>G	c.(2173-2175)AGA>AGG	p.R725R	ZNF438_uc001ivn.2_Silent_p.R676R|ZNF438_uc010qdy.1_Silent_p.R715R|ZNF438_uc001ivo.3_Silent_p.R289R|ZNF438_uc009xlg.2_Silent_p.R725R|ZNF438_uc001ivp.3_Silent_p.R715R|ZNF438_uc010qea.1_Silent_p.R725R|ZNF438_uc010qeb.1_Silent_p.R725R	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				GCCTTTTCAGTCTTGGACATG	0.537													C	31134202	T	C	31134202	2	2	189	1	0	0	0	0	0	0	0	1	17907	1664	58	3		3	ZNF438	10	31134202	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	816462	31134202	104400545	2592	100449											
ARHGAP12	94134	broad.mit.edu	37	chr10	32101710	32101711	+	Frame_Shift_Ins	INS	-	-	T													ttctttaagtttttcttggtINSttttttctgttctgaagaat					rs143153220		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:32101709_32101710G>GT	uc001ivz.1	-	14	2146_2147	c.1876_1877C>AC	c.(1876-1878)accfs	p.T626fs	ARHGAP12_uc001ivy.1_Frame_Shift_Ins_p.T572fs|ARHGAP12_uc009xls.2_Frame_Shift_Ins_p.T577fs|ARHGAP12_uc001iwb.1_Frame_Shift_Ins_p.T619fs|ARHGAP12_uc001iwc.1_Frame_Shift_Ins_p.T594fs|ARHGAP12_uc009xlq.1_Frame_Shift_Ins_p.T547fs	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	626					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)				GTTTTTCTTGGTTTTTTTCTGT	0.317													T	32101711	-	T	32101710	7	5	189	1	0	1	1	0	0	0	0	0	865	1725	60	0	688	0	ARHGAP12	10	32101710	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	967508	32101710	103433037	2593	100450											
EPC1	80314	broad.mit.edu	37	chr10	32575755	32575755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccaaggccagttgccagTttggtctaagtgaggcttaa	12	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:32575755T>C	uc001iwg.1	-	9	1528	c.1258A>G	c.(1258-1260)ACT>GCT	p.T420A	EPC1_uc001iwi.3_Missense_Mutation_p.T370A|EPC1_uc009xlt.2_Missense_Mutation_p.T370A|EPC1_uc001iwh.1_Missense_Mutation_p.T420A	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	420					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				CAGTTGCCAGTTTGGTCTAAG	0.368													C	32575755	T	C	32575755	3	2	189	1	0	0	0	0	1	0	0	0	5160	1725	60	3	1280	3	EPC1	10	32575755	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	474045	32575755	102958992	2594	100451											
C10orf68	79741	broad.mit.edu	37	chr10	32983820	32983820	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtagctcatgatgaagaAccaggcaaaaatcttgtgct	9	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:32983820A>G	uc001iwn.3	+	6	752	c.279A>G	c.(277-279)GAA>GAG	p.E93E	C10orf68_uc001iwl.1_Silent_p.E101E|C10orf68_uc001iwm.1_Intron|C10orf68_uc010qei.1_Silent_p.E20E	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	93										skin(2)|ovary(1)	3						ATGATGAAGAACCAGGCAAAA	0.338													G	32983820	A	G	32983820	2	3	189	1	0	0	0	0	0	0	0	1	1613	40	2	3		3	C10orf68	10	32983820	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	408065	32983820	102550927	2595	100452											
NRP1	8829	broad.mit.edu	37	chr10	33481334	33481334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaattcacagttaaaaccaTatgttggaaactcttcagtg	6	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:33481334T>C	uc001iwx.3	-	13	2460	c.1937A>G	c.(1936-1938)TAT>TGT	p.Y646C	NRP1_uc001iwv.3_Missense_Mutation_p.Y646C|NRP1_uc009xlz.2_Missense_Mutation_p.Y639C|NRP1_uc001iww.3_Missense_Mutation_p.Y458C|NRP1_uc001iwy.3_Missense_Mutation_p.Y639C	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	646	Extracellular (Potential).|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			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	GTTAAAACCATATGTTGGAAA	0.448													C	33481334	T	C	33481334	3	2	189	1	0	0	0	0	1	0	0	0	10660	1406	49	3	854	3	NRP1	10	33481334	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	497514	33481334	102053413	2596	100453											
PARD3	56288	broad.mit.edu	37	chr10	34620065	34620065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtctccatgccttcatcaTcatcatctaccgcgggttta	7	13	6	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:34620065T>C	uc010qej.1	-	19	2822	c.2822A>G	c.(2821-2823)GAT>GGT	p.D941G	PARD3_uc010qek.1_Missense_Mutation_p.D938G|PARD3_uc010qel.1_Missense_Mutation_p.D941G|PARD3_uc010qem.1_Missense_Mutation_p.D925G|PARD3_uc010qen.1_Missense_Mutation_p.D895G|PARD3_uc010qeo.1_Missense_Mutation_p.D895G|PARD3_uc010qep.1_Missense_Mutation_p.D851G|PARD3_uc010qeq.1_Missense_Mutation_p.D866G|PARD3_uc001ixo.1_Missense_Mutation_p.D654G|PARD3_uc001ixp.1_Missense_Mutation_p.D772G|PARD3_uc001ixq.1_Missense_Mutation_p.D895G|PARD3_uc001ixr.1_Missense_Mutation_p.D938G|PARD3_uc001ixt.1_Missense_Mutation_p.D759G|PARD3_uc001ixu.1_Missense_Mutation_p.D883G|PARD3_uc001ixs.1_Missense_Mutation_p.D564G	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	941					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			ovary(1)	1		Breast(68;0.0707)				GCCTTCATCATCATCATCTAC	0.358													C	34620065	T	C	34620065	3	2	189	1	0	0	0	0	1	0	0	0	11443	1435	50	3	1311	3	PARD3	10	34620065	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1138731	34620065	100914682	2597	100454											
PARD3	56288	broad.mit.edu	37	chr10	34739363	34739363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcccgcgggaggcttctgTagttttcatctttctattca	8	10	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:34739363T>C	uc010qej.1	-	5	596	c.596A>G	c.(595-597)TAC>TGC	p.Y199C	PARD3_uc010qek.1_Missense_Mutation_p.Y199C|PARD3_uc010qel.1_Missense_Mutation_p.Y199C|PARD3_uc010qem.1_Missense_Mutation_p.Y199C|PARD3_uc010qen.1_Missense_Mutation_p.Y199C|PARD3_uc010qeo.1_Missense_Mutation_p.Y199C|PARD3_uc010qep.1_Intron|PARD3_uc010qeq.1_Intron|PARD3_uc001ixp.1_Missense_Mutation_p.Y64C|PARD3_uc001ixq.1_Missense_Mutation_p.Y199C|PARD3_uc001ixr.1_Missense_Mutation_p.Y199C|PARD3_uc001ixt.1_Intron|PARD3_uc001ixu.1_Intron	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	199					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			ovary(1)	1		Breast(68;0.0707)				GAGGCTTCTGTAGTTTTCATC	0.428													C	34739363	T	C	34739363	3	2	189	1	0	0	0	0	1	0	0	0	11443	1638	57	3	3593	3	PARD3	10	34739363	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	119298	34739363	100795384	2598	100455											
ZNF33A	7581	broad.mit.edu	37	chr10	38345181	38345181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaatcatcactcacagTacatcacagggctcacacag	6	14	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:38345181T>C	uc001izh.2	+	5	2304	c.2126T>C	c.(2125-2127)GTA>GCA	p.V709A	ZNF33A_uc001izg.2_Missense_Mutation_p.V710A|ZNF33A_uc010qev.1_Missense_Mutation_p.V716A|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	709	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						TCACTCACAGTACATCACAGG	0.403													C	38345181	T	C	38345181	3	2	189	1	0	0	0	0	1	0	0	0	17851	1638	57	3	2143	3	ZNF33A	10	38345181	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3605818	38345181	97189566	2599	100456											
ZNF33A	7581	broad.mit.edu	37	chr10	38345257	38345257	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttttaccgtaaatcggaActtgctcaacatcagagatc	6	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:38345257A>G	uc001izh.2	+	5	2380	c.2202A>G	c.(2200-2202)GAA>GAG	p.E734E	ZNF33A_uc001izg.2_Silent_p.E735E|ZNF33A_uc010qev.1_Silent_p.E741E|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	734	C2H2-type 15.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						GTAAATCGGAACTTGCTCAAC	0.393													G	38345257	A	G	38345257	2	3	189	1	0	0	0	0	0	0	0	1	17851	40	2	3		3	ZNF33A	10	38345257	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	76	38345257	97189490	2600	100457											
HNRNPF	3185	broad.mit.edu	37	chr10	43882564	43882564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcccgaacaggtcggTggtgaagccgtagccatcac	12	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:43882564T>C	uc009xmh.1	-	3	1256	c.769A>G	c.(769-771)ACC>GCC	p.T257A	HNRNPF_uc001jar.2_Missense_Mutation_p.T257A|HNRNPF_uc001jas.2_Missense_Mutation_p.T257A|HNRNPF_uc001jat.2_Missense_Mutation_p.T257A|HNRNPF_uc001jav.2_Missense_Mutation_p.T257A|HNRNPF_uc001jau.2_Missense_Mutation_p.T257A|uc010qfa.1_Silent_p.G82G	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	257					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						AACAGGTCGGTGGTGAAGCCG	0.592													C	43882564	T	C	43882564	3	2	189	1	0	0	0	0	1	0	0	0	7265	1696	59	3	482	3	HNRNPF	10	43882564	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5537307	43882564	91652183	2601	100458											
ZNF22	7570	broad.mit.edu	37	chr10	45499107	45499107	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttctttcagagttctaaTctcattcagcatcgacggat	7	9	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:45499107T>C	uc001jbw.2	+	2	534	c.291T>C	c.(289-291)AAT>AAC	p.N97N	C10orf25_uc010qff.1_5'Flank|C10orf25_uc001jbv.1_5'Flank|uc001jbx.1_RNA	NM_006963	NP_008894	P17026	ZNF22_HUMAN	zinc finger protein 22 (KOX 15)	97	C2H2-type 2.				odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			breast(1)|kidney(1)	2		Prostate(175;0.0352)|all_neural(218;0.202)				AGAGTTCTAATCTCATTCAGC	0.418													C	45499107	T	C	45499107	2	2	189	1	0	0	0	0	0	0	0	1	17771	1432	50	3		3	ZNF22	10	45499107	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1616543	45499107	90035640	2602	100459											
ANUBL1	93550	broad.mit.edu	37	chr10	46159025	46159025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgctttcacagaaataAcagtttcaaaaggtgaaact	6	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:46159025A>G	uc001jcp.3	-	2	391	c.149T>C	c.(148-150)GTT>GCT	p.V50A	ANUBL1_uc001jcm.3_Missense_Mutation_p.V50A|ANUBL1_uc009xmu.2_5'UTR|ANUBL1_uc001jcn.3_5'UTR|ANUBL1_uc001jco.3_Missense_Mutation_p.V50A|ANUBL1_uc001jcq.2_RNA|ANUBL1_uc001jcr.2_Missense_Mutation_p.V50A	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	50	Ubiquitin-like.						zinc ion binding				0						CACAGAAATAACAGTTTCAAA	0.318													G	46159025	A	G	46159025	3	3	189	1	0	0	0	0	1	0	0	0	713	43	2	3	2070	3	ANUBL1	10	46159025	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	659918	46159025	89375722	2603	100460											
FRMPD2	143162	broad.mit.edu	37	chr10	49395242	49395242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcccatacctgcatgCatgctctgaacaggtggtcc	11	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:49395242C>A	uc001jgi.2	-	17	2366	c.2259G>T	c.(2257-2259)ATG>ATT	p.M753I	FRMPD2_uc001jgh.2_Missense_Mutation_p.M721I|FRMPD2_uc001jgj.2_Missense_Mutation_p.M731I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	753					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TACCTGCATGCATGCTCTGAA	0.577													A	49395242	C	A	49395242	3	1	189	1	0	0	0	0	1	0	0	0	6058	710	25	5	1722	5	FRMPD2	10	49395242	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3236217	49395242	86139505	2604	100461											
FRMPD2	143162	broad.mit.edu	37	chr10	49400886	49400886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaatgagaggcttagacCgggcctggtgtgcaggactc	14	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:49400886C>T	uc001jgi.2	-	16	2113	c.2006G>A	c.(2005-2007)CGG>CAG	p.R669Q	FRMPD2_uc001jgh.2_Missense_Mutation_p.R637Q|FRMPD2_uc001jgj.2_Missense_Mutation_p.R647Q	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	669					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		AGGCTTAGACCGGGCCTGGTG	0.463													T	49400886	C	T	49400886	3	4	189	1	0	0	0	0	1	0	0	0	6058	652	23	1	1979	1	FRMPD2	10	49400886	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5644	49400886	86133861	2605	100462											
FRMPD2	143162	broad.mit.edu	37	chr10	49447676	49447676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggctgcagtgactgtGtgtcaaggtgctccaatggg	16	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:49447676G>A	uc001jgi.2	-	7	867	c.760C>T	c.(760-762)CAC>TAC	p.H254Y	FRMPD2_uc001jgh.2_Missense_Mutation_p.H223Y|FRMPD2_uc001jgj.2_Missense_Mutation_p.H232Y	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	254					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CAGTGACTGTGTGTCAAGGTG	0.512													A	49447676	G	A	49447676	3	1	189	1	0	0	0	0	1	0	0	0	6058	1377	48	4	3261	4	FRMPD2	10	49447676	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	46790	49447676	86087071	2606	100463											
C10orf71	118461	broad.mit.edu	37	chr10	50532305	50532305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcatcacacatcaatcCccagaaggaccctacagctg	6	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:50532305C>T	uc010qgp.1	+	3	2054	c.1715C>T	c.(1714-1716)CCC>CTC	p.P572L		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	572											0						CACATCAATCCCCAGAAGGAC	0.537													T	50532305	C	T	50532305	3	4	189	1	0	0	0	0	1	0	0	0	1614	623	22	4	1717	4	C10orf71	10	50532305	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1084629	50532305	85002442	2607	100464											
OGDHL	55753	broad.mit.edu	37	chr10	50946030	50946030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatctgccggcgcagcAcgtggaagtagttggccggt	17	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:50946030A>G	uc001jie.2	-	19	2622	c.2480T>C	c.(2479-2481)GTG>GCG	p.V827A	OGDHL_uc009xog.2_Missense_Mutation_p.V854A|OGDHL_uc010qgt.1_Missense_Mutation_p.V770A|OGDHL_uc010qgu.1_Missense_Mutation_p.V618A	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	827					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CCGGCGCAGCACGTGGAAGTA	0.652													G	50946030	A	G	50946030	3	3	189	1	0	0	0	0	1	0	0	0	10840	159	6	3	572	3	OGDHL	10	50946030	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	413725	50946030	84588717	2608	100465											
OGDHL	55753	broad.mit.edu	37	chr10	50957801	50957801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccagcttggggtcaaActggcagaagatctgctcca	11	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:50957801A>G	uc001jie.2	-	8	1100	c.958T>C	c.(958-960)TTT>CTT	p.F320L	OGDHL_uc009xog.2_Missense_Mutation_p.F347L|OGDHL_uc010qgt.1_Missense_Mutation_p.F263L|OGDHL_uc010qgu.1_Missense_Mutation_p.F111L|OGDHL_uc009xoh.2_Missense_Mutation_p.F111L	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	320					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TTGGGGTCAAACTGGCAGAAG	0.662													G	50957801	A	G	50957801	3	3	189	1	0	0	0	0	1	0	0	0	10840	43	2	3	2138	3	OGDHL	10	50957801	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11771	50957801	84576946	2609	100466											
BICC1	80114	broad.mit.edu	37	chr10	60546761	60546761	+	Frame_Shift_Del	DEL	A	A	-													gcaaaggtggcaacaatattAaaaaagtgatggaagaaacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:60546760_60546760TA>T	uc001jki.1	+	4	465	c.465_465TA>T	c.(463-465)attfs	p.I155fs		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	155	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						GCAACAATATTAAAAAAGTGA	0.373													-	60546761	A	-	60546761	7	5	189	1	0	1	0	1	0	0	0	0	1427	363	13	0	484	0	BICC1	10	60546761	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	9588960	60546761	74987986	2610	100467											
BICC1	80114	broad.mit.edu	37	chr10	60562876	60562876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaccctgaactgagtgcTaccgaaagccctttggctga	10	12	1	4	rs139787636		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:60562876T>C	uc001jki.1	+	15	2055	c.2055T>C	c.(2053-2055)GCT>GCC	p.A685A	BICC1_uc001jkj.1_Silent_p.A326A	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	685					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AACTGAGTGCTACCGAAAGCC	0.512													C	60562876	T	C	60562876	2	2	189	1	0	0	0	0	0	0	0	1	1427	1509	53	3		3	BICC1	10	60562876	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	16115	60562876	74971871	2611	100468											
PHYHIPL	84457	broad.mit.edu	37	chr10	60994089	60994089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacaagacagtggcatAgcagagatggaagaacttcc	10	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:60994089A>G	uc001jkk.3	+	2	398	c.132A>G	c.(130-132)ATA>ATG	p.I44M	PHYHIPL_uc001jkl.3_Translation_Start_Site|PHYHIPL_uc001jkm.3_Missense_Mutation_p.I18M	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	44											0						ACAGTGGCATAGCAGAGATGG	0.338													G	60994089	A	G	60994089	3	3	189	1	0	0	0	0	1	0	0	0	11867	410	15	3	170	3	PHYHIPL	10	60994089	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	431213	60994089	74540658	2612	100469											
FAM13C	220965	broad.mit.edu	37	chr10	61112119	61112119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgctgggtcgcaataCgctgtccaccagcacggtcg	12	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:61112119C>T	uc001jkn.2	-	4	369	c.235G>A	c.(235-237)GTA>ATA	p.V79I	FAM13C_uc001jko.2_Missense_Mutation_p.V79I|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Missense_Mutation_p.V101I|FAM13C_uc001jkp.2_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	79										ovary(2)	2						GGTCGCAATACGCTGTCCACC	0.607													T	61112119	C	T	61112119	3	4	189	1	0	0	0	0	1	0	0	0	5454	536	19	1	1570	1	FAM13C	10	61112119	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	118030	61112119	74422628	2613	100470											
SLC16A9	220963	broad.mit.edu	37	chr10	61413938	61413938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgccacttcctcttggcAagctgtttgcaaaaatatgt	7	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:61413938A>G	uc010qig.1	-	5	1295	c.846T>C	c.(844-846)CTT>CTC	p.L282L		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	282	Extracellular (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						TCCTCTTGGCAAGCTGTTTGC	0.373													G	61413938	A	G	61413938	2	3	189	1	0	0	0	0	0	0	0	1	14415	117	5	3		3	SLC16A9	10	61413938	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	301819	61413938	74120809	2614	100471											
ANK3	288	broad.mit.edu	37	chr10	61830159	61830159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgacttctgatcagTcttatcaggagtcttttcag	9	11	6	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:61830159T>C	uc001jky.2	-	37	10672	c.10480A>G	c.(10480-10482)ACT>GCT	p.T3494A	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3494					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTCTGATCAGTCTTATCAGGA	0.443													C	61830159	T	C	61830159	3	2	189	1	0	0	0	0	1	0	0	0	622	1667	58	3	2994	3	ANK3	10	61830159	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	416221	61830159	73704588	2615	100472											
ANK3	288	broad.mit.edu	37	chr10	61832609	61832609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtctgttgggagagaAccatcttctctgggctgctg	12	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:61832609A>G	uc001jky.2	-	37	8222	c.8030T>C	c.(8029-8031)GTT>GCT	p.V2677A	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2677					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTGGGAGAGAACCATCTTCTC	0.562													G	61832609	A	G	61832609	3	3	189	1	0	0	0	0	1	0	0	0	622	43	2	3	5444	3	ANK3	10	61832609	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2450	61832609	73702138	2616	100473											
C10orf107	219621	broad.mit.edu	37	chr10	63519910	63519911	+	Frame_Shift_Ins	INS	-	-	C													ttattcaacattcatagagcINScccccacaatattggatacg					rs143081316		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:63519909_63519910G>GC	uc010qik.2	+	4	686_687	c.381_382G>GC	c.(379-384)gagcccfs	p.E127fs		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	127								p.E127Q(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CATTCATAGAGCCCCCCACAAT	0.416													C	63519911	-	C	63519910	7	5	189	1	0	1	1	0	0	0	0	0	1581	739	26	0	396	0	C10orf107	10	63519910	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	1687301	63519910	72014837	2617	100474											
ARID5B	84159	broad.mit.edu	37	chr10	63852092	63852092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccccaaagcctgtcgggTatcacccatgaccatgtcag	8	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:63852092T>C	uc001jlt.1	+	10	2896	c.2870T>C	c.(2869-2871)GTA>GCA	p.V957A		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	957					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			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					GCCTGTCGGGTATCACCCATG	0.522													C	63852092	T	C	63852092	3	2	189	1	0	0	0	0	1	0	0	0	922	1638	57	3	2908	3	ARID5B	10	63852092	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	332182	63852092	71682655	2618	100475											
RTKN2	219790	broad.mit.edu	37	chr10	63999501	63999501	+	Frame_Shift_Del	DEL	A	A	-													agctcccattttgaataaacAaaaaatggcatagcgtcgtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:63999501delA	uc001jlw.2	-	5	491	c.394delT	c.(394-396)TGTfs	p.C132fs	RTKN2_uc001jlx.2_Frame_Shift_Del_p.C132fs	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	132					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTGAATAAACAAAAAATGGCA	0.289													-	63999501	A	-	63999501	7	5	189	1	0	1	0	1	0	0	0	0	13723	130	5	0	1467	0	RTKN2	10	63999501	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	147409	63999501	71535246	2619	100476											
JMJD1C	221037	broad.mit.edu	37	chr10	64944406	64944406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctagatcaggacgtAcaaaaaatcctggcaaatga	10	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:64944406A>G	uc001jmn.2	-	21	7223	c.6923T>C	c.(6922-6924)GTA>GCA	p.V2308A	JMJD1C_uc001jml.2_Missense_Mutation_p.V2071A|JMJD1C_uc001jmm.2_Missense_Mutation_p.V2020A|JMJD1C_uc010qiq.1_Missense_Mutation_p.V2126A|JMJD1C_uc009xpi.2_Missense_Mutation_p.V2126A|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.V215A	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2308	JmjC.				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	p.V2071E(1)		ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCAGGACGTACAAAAAATCC	0.358													G	64944406	A	G	64944406	3	3	189	1	0	0	0	0	1	0	0	0	7950	391	14	3	723	3	JMJD1C	10	64944406	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	944905	64944406	70590341	2620	100477											
JMJD1C	221037	broad.mit.edu	37	chr10	64967249	64967249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattacatccgttttggTattacacatcgtatttacag	7	7	0	1	rs139881253	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:64967249T>C	uc001jmn.2	-	10	4480	c.4180A>G	c.(4180-4182)ACC>GCC	p.T1394A	JMJD1C_uc001jml.2_Missense_Mutation_p.T1175A|JMJD1C_uc001jmm.2_Missense_Mutation_p.T1106A|JMJD1C_uc010qiq.1_Missense_Mutation_p.T1212A|JMJD1C_uc009xpi.2_Missense_Mutation_p.T1212A|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.T431A	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1394					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCGTTTTGGTATTACACATC	0.423													C	64967249	T	C	64967249	3	2	189	1	0	0	0	0	1	0	0	0	7950	1638	57	3	3510	3	JMJD1C	10	64967249	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22843	64967249	70567498	2621	100478											
JMJD1C	221037	broad.mit.edu	37	chr10	64975218	64975218	+	Splice_Site	DEL	A	A	-													ggcacgtgtataatggctctAaaaataaccaattaacagta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:64975217_64975217TA>T	uc001jmn.3	-	7	1123	c.823_splice	c.e7-1	p.S275_splice	JMJD1C_uc001jml.3_Splice_Site_p.S56_splice|JMJD1C_uc001jmm.3_Splice_Site|JMJD1C_uc010qiq.2_Splice_Site_p.S93_splice|JMJD1C_uc009xpi.3_Splice_Site_p.S93_splice|JMJD1C_uc009xpj.2_Splice_Site|JMJD1C_uc001jmp.1_Splice_Site	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	275					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)					ATAATGGCTCTAAAAATAACC	0.373													-	64975218	A	-	64975218	8	5	189	1	0	1	0	1	0	0	1	0	7950	377	13	0		0	JMJD1C	10	64975218	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	7969	64975218	70559529	2622	100479											
CTNNA3	29119	broad.mit.edu	37	chr10	67748557	67748557	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtggtcctttgccccTggaaaaaaatttatatatgt	7	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:67748557T>C	uc009xpn.1	-	16	2283	c.2160_splice	c.e16-1	p.R720_splice	CTNNA3_uc001jmw.2_Splice_Site_p.R720_splice	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CCTTTGCCCCTGGAAAAAAAT	0.383													C	67748557	T	C	67748557	5	2	189	1	0	0	0	0	0	0	1	0	4014	1594	55	3	541	3	CTNNA3	10	67748557	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2773339	67748557	67786190	2623	100480											
HERC4	26091	broad.mit.edu	37	chr10	69785304	69785304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttacataacaccttaccGtccacaagcaatctcagtga	4	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:69785304G>A	uc001jng.3	-	8	1218	c.907C>T	c.(907-909)CGG>TGG	p.R303W	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.R303W|HERC4_uc009xpr.2_Missense_Mutation_p.R303W|HERC4_uc001jni.3_Missense_Mutation_p.R47W|HERC4_uc001jnj.2_Missense_Mutation_p.R303W	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	303	RCC1 6.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						ACACCTTACCGTCCACAAGCA	0.383													A	69785304	G	A	69785304	3	1	189	1	0	0	0	0	1	0	0	0	7060	1159	40	1	2342	1	HERC4	10	69785304	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2036747	69785304	65749443	2624	100481											
DNA2	1763	broad.mit.edu	37	chr10	70191674	70191674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatacccacgatgagtgtgTagtcttttgaaagaagtacc	10	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:70191674T>C	uc001jof.2	-	13	2186	c.2186A>G	c.(2185-2187)TAC>TGC	p.Y729C	DNA2_uc001jog.1_Missense_Mutation_p.Y643C|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	643					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						GATGAGTGTGTAGTCTTTTGA	0.353													C	70191674	T	C	70191674	3	2	189	1	0	0	0	0	1	0	0	0	4596	1638	57	3	1290	3	DNA2	10	70191674	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	406370	70191674	65343073	2625	100482											
TET1	80312	broad.mit.edu	37	chr10	70405606	70405606	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttgcatcagttgccaccAagaaataatgaagtggagta	10	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:70405606A>G	uc001jok.3	+	4	3625	c.3120A>G	c.(3118-3120)CCA>CCG	p.P1040P		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1040					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AGTTGCCACCAAGAAATAATG	0.373													G	70405606	A	G	70405606	2	3	189	1	0	0	0	0	0	0	0	1	15766	117	5	3		3	TET1	10	70405606	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	213932	70405606	65129141	2626	100483											
CCAR1	55749	broad.mit.edu	37	chr10	70531074	70531074	+	Frame_Shift_Del	DEL	A	A	-													aggacaaaaaagaaaaggatAaaaaaagcaaaaaagatgag					rs3205757		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:70531073_70531073TA>T	uc001joo.3	+	17	2528	c.2409_2409TA>T	c.(2407-2409)gatfs	p.D803fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Del_p.D608fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.D777fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.D749fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.D788fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.D788fs|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	803	Glu-rich.			EKD -> KKK (in Ref. 6; AAH89420).	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						aagaaaaggataaaaaaagca	0.338													-	70531074	A	-	70531074	7	5	189	1	0	1	0	1	0	0	0	0	2730	363	13	0	2476	0	CCAR1	10	70531074	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	125468	70531074	65003673	2627	100484											
DDX50	79009	broad.mit.edu	37	chr10	70672961	70672961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactggcaaaccaagtagCcaaagacttcaaagatataa	8	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:70672961C>T	uc001jou.2	+	5	790	c.683C>T	c.(682-684)GCC>GTC	p.A228V	DDX50_uc001jot.2_Missense_Mutation_p.A228V|DDX50_uc010qjc.1_Missense_Mutation_p.A228V	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	228	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						AACCAAGTAGCCAAAGACTTC	0.358													T	70672961	C	T	70672961	3	4	189	1	0	0	0	0	1	0	0	0	4368	739	26	2	701	2	DDX50	10	70672961	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	141887	70672961	64861786	2628	100485											
KIAA1279	26128	broad.mit.edu	37	chr10	70775815	70775815	+	Frame_Shift_Del	DEL	A	A	-													gatcctgattcacacattgtAaaaaaaataaataatcttaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:70775814_70775814TA>T	uc001joy.3	+	6	1620	c.1508_1508TA>T	c.(1507-1509)gtafs	p.V503fs		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	503					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	p.V503I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TCACACATTGTAAAAAAAATA	0.383													-	70775815	A	-	70775815	7	5	189	1	0	1	0	1	0	0	0	0	8221	349	13	0	1535	0	KIAA1279	10	70775815	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	102854	70775815	64758932	2629	100486											
SUPV3L1	6832	broad.mit.edu	37	chr10	70951476	70951476	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaatgggaaacaggcTtcacatgtttcttgtacagt	9	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:70951476T>C	uc001jpe.1	+	6	862	c.807T>C	c.(805-807)GCT>GCC	p.A269A	SUPV3L1_uc010qjd.1_Silent_p.A138A	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	269	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						GGAAACAGGCTTCACATGTTT	0.358													C	70951476	T	C	70951476	2	2	189	1	0	0	0	0	0	0	0	1	15399	1596	56	3		3	SUPV3L1	10	70951476	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	175661	70951476	64583271	2630	100487											
HKDC1	80201	broad.mit.edu	37	chr10	71003028	71003028	+	Frame_Shift_Del	DEL	G	G	-													gatgtgcatcaacacagagtGgggggccttcggggacgacg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:71003027_71003027TG>T	uc001jpf.4	+	6	914	c.781_781TG>T	c.(781-783)tggfs	p.W261fs	HKDC1_uc010qje.2_Frame_Shift_Del_p.W124fs	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	261					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAACACAGAGTGGGGGGCCTT	0.597													-	71003028	G	-	71003028	7	5	189	1	0	1	0	1	0	0	0	0	7193	1357	47	0	808	0	HKDC1	10	71003028	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	51552	71003028	64531719	2631	100488											
HKDC1	80201	broad.mit.edu	37	chr10	71003054	71003054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcggggacgacggggccCtggaggacattcgcactgag	16	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:71003054C>A	uc001jpf.3	+	7	941	c.808C>A	c.(808-810)CTG>ATG	p.L270M	HKDC1_uc010qje.1_Missense_Mutation_p.L133M	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	270					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						CGACGGGGCCCTGGAGGACAT	0.592													A	71003054	C	A	71003054	3	1	189	1	0	0	0	0	1	0	0	0	7193	680	24	5	834	5	HKDC1	10	71003054	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	26	71003054	64531693	2632	100489											
HK1	3098	broad.mit.edu	37	chr10	71128328	71128328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaagcgatttaaagcgAgcggagtggaaggagcagat	16	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:71128328A>G	uc001jpl.3	+	5	633	c.532A>G	c.(532-534)AGC>GGC	p.S178G	HK1_uc001jpg.3_Missense_Mutation_p.S166G|HK1_uc001jph.3_Missense_Mutation_p.S182G|HK1_uc001jpi.3_Missense_Mutation_p.S182G|HK1_uc001jpj.3_Missense_Mutation_p.S213G|HK1_uc001jpk.3_Missense_Mutation_p.S177G|HK1_uc009xqd.2_Missense_Mutation_p.S56G	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	178	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATTTAAAGCGAGCGGAGTGGA	0.567													G	71128328	A	G	71128328	3	3	189	1	0	0	0	0	1	0	0	0	7190	304	11	3	728	3	HK1	10	71128328	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	125274	71128328	64406419	2633	100490											
ADAMTS14	140766	broad.mit.edu	37	chr10	72520490	72520490	+	Frame_Shift_Del	DEL	G	G	-													gcatctcccctaccacccccGgggggctgccttggggctgg					rs150968185	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:72520489_72520489CG>C	uc001jrg.3	+	21	3561	c.3561_3561CG>C	c.(3559-3561)cccfs	p.P1187fs	ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.P1184fs	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1184	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTACCACCCCCGGGGGGCTGC	0.637													-	72520490	G	-	72520490	7	5	189	1	0	1	0	1	0	0	0	0	259	1116	39	0	3648	0	ADAMTS14	10	72520490	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1392162	72520490	63014257	2634	100491											
CDH23	64072	broad.mit.edu	37	chr10	73498265	73498265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctcaggtctacatcaCtgtgctggacgagaatgaca	9	12	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:73498265C>T	uc001jrx.3	+	33	4597	c.4220C>T	c.(4219-4221)ACT>ATT	p.T1407I	C10orf105_uc001jsb.1_5'Flank|CDH23_uc001jsc.1_Missense_Mutation_p.T214I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1407	Cadherin 13.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GTCTACATCACTGTGCTGGAC	0.617													T	73498265	C	T	73498265	3	4	189	1	0	0	0	0	1	0	0	0	3108	565	20	4	4699	4	CDH23	10	73498265	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	977775	73498265	62036482	2635	100492											
CDH23	64072	broad.mit.edu	37	chr10	73553070	73553070	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtcatccgtgttggtAatgccaccatcgacagagag	13	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:73553070A>T	uc001jrx.3	+	46	6762	c.6385A>T	c.(6385-6387)AAT>TAT	p.N2129Y	CDH23_uc001jsg.3_5'Flank|CDH23_uc001jsh.3_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2129	Cadherin 20.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCGTGTTGGTAATGCCACCAT	0.597													T	73553070	A	T	73553070	3	4	189	1	0	0	0	0	1	0	0	0	3108	362	13	5	6916	5	CDH23	10	73553070	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	54805	73553070	61981677	2636	100493											
DNAJB12	54788	broad.mit.edu	37	chr10	74095633	74095633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgcccatcttctgtgCtctgtggtacatatctgtgt	13	9	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:74095633C>A	uc010qjv.1	-	8	1315	c.1165G>T	c.(1165-1167)GCA>TCA	p.A389S	DNAJB12_uc001jsz.2_Missense_Mutation_p.A389S|DNAJB12_uc001jta.2_Missense_Mutation_p.A389S	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	355					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						ATCTTCTGTGCTCTGTGGTAC	0.592													A	74095633	C	A	74095633	3	1	189	1	0	0	0	0	1	0	0	0	4617	797	28	5	68	5	DNAJB12	10	74095633	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	542563	74095633	61439114	2637	100494											
P4HA1	5033	broad.mit.edu	37	chr10	74813265	74813265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttccatccacagttccgTatggtaataatctgcttctg	7	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:74813265T>C	uc010qka.1	-	7	881	c.547A>G	c.(547-549)ACG>GCG	p.T183A	P4HA1_uc001jtg.2_Missense_Mutation_p.T183A|P4HA1_uc001jth.2_Missense_Mutation_p.T183A|P4HA1_uc010qkb.1_Missense_Mutation_p.T183A|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	183						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			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACAGTTCCGTATGGTAATAA	0.408													C	74813265	T	C	74813265	3	2	189	1	0	0	0	0	1	0	0	0	11356	1638	57	3	1172	3	P4HA1	10	74813265	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	717632	74813265	60721482	2638	100495											
TTC18	118491	broad.mit.edu	37	chr10	75051441	75051441	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagttggttccaagcaagtAgcatcctcaaagaaaatttc	7	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:75051441A>G	uc009xrc.2	-	19	2308	c.2187T>C	c.(2185-2187)GCT>GCC	p.A729A	TTC18_uc001jty.2_Silent_p.A729A|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Silent_p.A110A	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	729	TPR 3.						binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					CCAAGCAAGTAGCATCCTCAA	0.393													G	75051441	A	G	75051441	2	3	189	1	0	0	0	0	0	0	0	1	16682	407	15	3		3	TTC18	10	75051441	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	238176	75051441	60483306	2639	100496											
USP54	159195	broad.mit.edu	37	chr10	75331193	75331193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttaccttgagagcgcaaaAgatgcaggaatctcccatgc	9	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:75331193A>G	uc001juo.2	-	2	243	c.226T>C	c.(226-228)TTT>CTT	p.F76L	USP54_uc001jup.2_Missense_Mutation_p.F76L|USP54_uc010qkl.1_Missense_Mutation_p.F76L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	76					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					AGAGCGCAAAAGATGCAGGAA	0.423													G	75331193	A	G	75331193	3	3	189	1	0	0	0	0	1	0	0	0	17082	72	3	3	4912	3	USP54	10	75331193	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	279752	75331193	60203554	2640	100497											
NDST2	8509	broad.mit.edu	37	chr10	75563406	75563406	+	Frame_Shift_Del	DEL	C	C	-													ggctcgtggcaggagggcagCcccccgccgtggtacaactt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:75563405_75563405GC>G	uc001jvk.2	-	10	2873	c.2069_2069GC>C	c.(2068-2070)gctfs	p.A690fs	NDST2_uc010qks.1_Frame_Shift_Del_p.A316fs|NDST2_uc010qkt.1_Frame_Shift_Del_p.A567fs|NDST2_uc001jvl.1_Frame_Shift_Del_p.A97fs|NDST2_uc009xro.2_Frame_Shift_Del_p.A316fs|NDST2_uc010qku.1_Frame_Shift_Del_p.A565fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	690	Heparan sulfate N-sulfotransferase 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)					CAGGAGGGCAGCCCCCCGCCG	0.537													-	75563406	C	-	75563406	7	5	189	1	0	1	0	1	0	0	0	0	10256	739	26	0	603	0	NDST2	10	75563406	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	232213	75563406	59971341	2641	100498											
NDST2	8509	broad.mit.edu	37	chr10	75563469	75563469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaaataggaaatcagTgctggcattggaaggaacag	11	5	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:75563469T>C	uc001jvk.2	-	11	2809	c.2005A>G	c.(2005-2007)ACT>GCT	p.T669A	NDST2_uc010qks.1_Missense_Mutation_p.T295A|NDST2_uc010qkt.1_Missense_Mutation_p.T546A|NDST2_uc001jvl.1_Missense_Mutation_p.T76A|NDST2_uc009xro.2_Missense_Mutation_p.T295A|NDST2_uc010qku.1_Missense_Mutation_p.T544A	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	669	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					AGGAAATCAGTGCTGGCATTG	0.488													C	75563469	T	C	75563469	3	2	189	1	0	0	0	0	1	0	0	0	10256	1696	59	3	666	3	NDST2	10	75563469	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	63	75563469	59971278	2642	100499											
DLG5	9231	broad.mit.edu	37	chr10	79589141	79589141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgaggttgatgtgcagCggcgtgaccaccttcccacc	11	15	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:79589141C>T	uc001jzk.2	-	12	2227	c.2157G>A	c.(2155-2157)CCG>CCA	p.P719P	DLG5_uc001jzj.2_Silent_p.P474P|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.P323P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	719	PDZ 2.				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			ovary(5)|breast(3)	8	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)			TGATGTGCAGCGGCGTGACCA	0.627													T	79589141	C	T	79589141	2	4	189	1	0	0	0	0	0	0	0	1	4558	755	27	1		1	DLG5	10	79589141	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4025672	79589141	55945606	2643	100500											
DLG5	9231	broad.mit.edu	37	chr10	79590513	79590513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttaccgtctccctctcgaActctacaacttccgtttccc	4	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:79590513A>G	uc001jzk.2	-	10	1937	c.1867T>C	c.(1867-1869)TTC>CTC	p.F623L	DLG5_uc001jzj.2_Missense_Mutation_p.F378L|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.F227L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	623	PDZ 1.				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			ovary(5)|breast(3)	8	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)			TCCCTCTCGAACTCTACAACT	0.557													G	79590513	A	G	79590513	3	3	189	1	0	0	0	0	1	0	0	0	4558	43	2	3	3984	3	DLG5	10	79590513	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1372	79590513	55944234	2644	100501											
POLR3A	11128	broad.mit.edu	37	chr10	79769355	79769355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgcccttggttcgcaGgttggccctcactggattgt	12	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:79769355G>T	uc001jzn.2	-	14	1943	c.1849C>A	c.(1849-1851)CTG>ATG	p.L617M		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	617					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				0	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)			TTGGTTCGCAGGTTGGCCCTC	0.577													T	79769355	G	T	79769355	3	4	189	1	0	0	0	0	1	0	0	0	12228	991	35	5	2395	5	POLR3A	10	79769355	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	178842	79769355	55765392	2645	100502											
ZMIZ1	57178	broad.mit.edu	37	chr10	81056311	81056311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcccccaaccccccgagGccactcacctcccccaacta	4	25	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:81056311G>A	uc001kaf.2	+	13	1886	c.1314G>A	c.(1312-1314)AGG>AGA	p.R438R	ZMIZ1_uc001kag.2_Silent_p.R314R|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	438	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	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)			ACCCCCCGAGGCCACTCACCT	0.627													A	81056311	G	A	81056311	2	1	189	1	0	0	0	0	0	0	0	1	17693	1194	42	2		2	ZMIZ1	10	81056311	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1286956	81056311	54478436	2646	100503											
SFTPD	6441	broad.mit.edu	37	chr10	81706245	81706246	+	Frame_Shift_Del	DEL	CT	CT	-													cccttctcgccccgagggccCtctctcccatcccgtccatc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:81706244_81706245CCT>C	uc001kbh.3	-	1	214_215	c.171_172AGG>G	c.(169-174)gagggcfs	p.E57fs		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	57	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|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)			CCCCGAGGGCCCTCTCTCCCAT	0.614													-	81706246	CT	-	81706245	7	5	189	1	0	1	0	1	0	0	0	0	14193	680	24	0	984	0	SFTPD	10	81706245	Frame_Shift_Del	DEL	CT	TCGA-CG-5721-01A-11D-1600-08	649934	81706245	53828502	2647	100504											
C10orf58	84293	broad.mit.edu	37	chr10	82185681	82185681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggcgtccccctctaTgcagtggtaaaggagcacat	12	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:82185681T>C	uc001kcc.3	+	4	490	c.330T>C	c.(328-330)TAT>TAC	p.Y110Y	C10orf58_uc001kcd.3_Silent_p.Y99Y|C10orf58_uc001kce.3_Silent_p.Y110Y|C10orf58_uc001kcf.3_Silent_p.Y110Y	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	hypothetical protein LOC84293 precursor	110						extracellular region					0			Colorectal(32;0.229)			TCCCCCTCTATGCAGTGGTAA	0.512													C	82185681	T	C	82185681	2	2	189	1	0	0	0	0	0	0	0	1	1610	1471	51	3		3	C10orf58	10	82185681	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	479436	82185681	53349066	2648	100505											
GRID1	2894	broad.mit.edu	37	chr10	87615784	87615784	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgccccctcacacgtAcctttttgatggtatccagc	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:87615784A>G	uc001kdl.1	-	7	1214	c.1113_splice	c.e7+1	p.K371_splice	GRID1_uc009xsu.1_Splice_Site	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1							cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CCTCACACGTACCTTTTTGAT	0.557										Multiple Myeloma(13;0.14)			G	87615784	A	G	87615784	5	3	189	1	0	0	0	0	0	0	1	0	6771	405	14	3	1954	3	GRID1	10	87615784	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5430103	87615784	47918963	2649	100506											
WAPAL	23063	broad.mit.edu	37	chr10	88259565	88259565	+	Frame_Shift_Del	DEL	T	T	-													tgatggagctgttttagttcTttttttgcttgtctttcttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:88259564_88259564CT>C	uc001kdn.3	-	3	1574	c.1565_1565AG>G	c.(1564-1566)agafs	p.R522fs	WAPAL_uc001kdo.3_Frame_Shift_Del_p.R479fs|WAPAL_uc009xsw.3_Frame_Shift_Del_p.R479fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	479	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|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						TGTTTTAGTTCTTTTTTTGCT	0.383													-	88259565	T	-	88259565	7	5	189	1	0	1	0	1	0	0	0	0	17245	1617	56	0	2205	0	WAPAL	10	88259565	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	643781	88259565	47275182	2650	100507											
C10orf116	10974	broad.mit.edu	37	chr10	88728350	88728350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaacaggtggaggggaccGcccaggaagccggtgaggat	18	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:88728350G>A	uc001ked.2	+	1	163	c.49G>A	c.(49-51)GCC>ACC	p.A17T	AGAP11_uc001kee.2_5'Flank|uc001kec.1_3'UTR	NM_006829	NP_006820	Q15847	APM2_HUMAN	adipose specific 2	17											0						GGAGGGGACCGCCCAGGAAGC	0.652													A	88728350	G	A	88728350	3	1	189	1	0	0	0	0	1	0	0	0	1586	1087	38	1	51	1	C10orf116	10	88728350	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	468785	88728350	46806397	2651	100508											
ATAD1	84896	broad.mit.edu	37	chr10	89574266	89574266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccatttgatagtaaagtAtgtcactgcaccaaatattg	6	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:89574266A>G	uc001key.1	-	1	374	c.91T>C	c.(91-93)TAC>CAC	p.Y31H	ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.Y31H	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	31						peroxisome	ATP binding|nucleoside-triphosphatase activity			large_intestine(1)|ovary(1)	2		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ATAGTAAAGTATGTCACTGCA	0.358													G	89574266	A	G	89574266	3	3	189	1	0	0	0	0	1	0	0	0	1070	449	16	3	1030	3	ATAD1	10	89574266	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	845916	89574266	45960481	2652	100509											
IFIT3	3437	broad.mit.edu	37	chr10	91098570	91098570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgagttcaaagctacaaTgtacaacttgttggcctaca	7	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:91098570T>C	uc001kgf.2	+	2	387	c.158T>C	c.(157-159)ATG>ACG	p.M53T	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.M53T	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	53	TPR 1.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						AAAGCTACAATGTACAACTTG	0.413													C	91098570	T	C	91098570	3	2	189	1	0	0	0	0	1	0	0	0	7524	1464	51	3	173	3	IFIT3	10	91098570	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1524304	91098570	44436177	2653	100510											
HECTD2	143279	broad.mit.edu	37	chr10	93185148	93185148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcacctgcacatcttgtTttccctaacatcaagaatgg	6	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:93185148T>C	uc001khl.2	+	2	349	c.249T>C	c.(247-249)GTT>GTC	p.V83V	LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khk.2_Silent_p.V83V|HECTD2_uc010qnm.1_Silent_p.V83V|HECTD2_uc001khm.2_RNA	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	83					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						CACATCTTGTTTTCCCTAACA	0.274													C	93185148	T	C	93185148	2	2	189	1	0	0	0	0	0	0	0	1	7040	1828	64	3		3	HECTD2	10	93185148	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2086578	93185148	42349599	2654	100511											
TNKS2	80351	broad.mit.edu	37	chr10	93596680	93596680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcttttttagagggTatctcattaggtaattcaga	7	7	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:93596680T>C	uc001khp.2	+	13	1749	c.1452T>C	c.(1450-1452)GGT>GGC	p.G484G		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	484					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			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				TTTTAGAGGGTATCTCATTAG	0.403													C	93596680	T	C	93596680	2	2	189	1	0	0	0	0	0	0	0	1	16318	1625	57	3		3	TNKS2	10	93596680	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	411532	93596680	41938067	2655	100512											
BTAF1	9044	broad.mit.edu	37	chr10	93740227	93740227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaactcttcatcttggcTtatacctatactgcctgata	5	11	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:93740227T>C	uc001khr.2	+	15	1765	c.1667T>C	c.(1666-1668)CTT>CCT	p.L556P	BTAF1_uc001khs.1_Missense_Mutation_p.L226P|BTAF1_uc001kht.1_5'UTR	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	556	HEAT 4.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TCATCTTGGCTTATACCTATA	0.353													C	93740227	T	C	93740227	3	2	189	1	0	0	0	0	1	0	0	0	1536	1609	56	3	1725	3	BTAF1	10	93740227	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	143547	93740227	41794520	2656	100513											
CPEB3	22849	broad.mit.edu	37	chr10	93940759	93940759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgttcctggatgatggaAatttatccccatgcgtccta	8	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:93940759A>G	uc001khw.1	-	4	1356	c.1183T>C	c.(1183-1185)TTC>CTC	p.F395L	CPEB3_uc001khu.1_Missense_Mutation_p.F395L|CPEB3_uc001khv.1_Missense_Mutation_p.F372L|CPEB3_uc010qnn.1_Missense_Mutation_p.F372L	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	395							nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				GGATGATGGAAATTTATCCCC	0.264													G	93940759	A	G	93940759	3	3	189	1	0	0	0	0	1	0	0	0	3802	14	1	3	968	3	CPEB3	10	93940759	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	200532	93940759	41593988	2657	100514											
MARCH5	54708	broad.mit.edu	37	chr10	94070932	94070932	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgatgaagatgatagaAcagctgaatgggtgagacca	12	6	0	7			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:94070932A>C	uc001khx.1	+	2	408	c.76A>C	c.(76-78)ACA>CCA	p.T26P	MARCH5_uc010qno.1_5'UTR	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	26	RING-CH-type.				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			skin(1)	1						AGATGATAGAACAGCTGAATG	0.428													C	94070932	A	C	94070932	3	2	189	1	0	0	0	0	1	0	0	0	9304	43	2	5	82	5	MARCH5	10	94070932	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	130173	94070932	41463815	2658	100515											
CYP26A1	1592	broad.mit.edu	37	chr10	94834724	94834724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgaaccccaactggcGggcgacggggactccgagca	16	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:94834724G>A	uc001kil.2	+	3	648	c.603G>A	c.(601-603)GCG>GCA	p.A201A	CYP26A1_uc001kik.1_Silent_p.A132A|CYP26A1_uc001kim.1_Silent_p.A99A	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	201					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CCCAACTGGCGGGCGACGGGG	0.652													A	94834724	G	A	94834724	2	1	189	1	0	0	0	0	0	0	0	1	4155	1103	39	1		1	CYP26A1	10	94834724	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	763792	94834724	40700023	2659	100516											
PDE6C	5146	broad.mit.edu	37	chr10	95399875	95399875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaactgtacgaattccgcTtcagtgacttcccccttaca	6	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:95399875T>C	uc001kiu.3	+	12	1669	c.1531T>C	c.(1531-1533)TTC>CTC	p.F511L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	511					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				CGAATTCCGCTTCAGTGACTT	0.413													C	95399875	T	C	95399875	3	2	189	1	0	0	0	0	1	0	0	0	11647	1609	56	3	1577	3	PDE6C	10	95399875	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	565151	95399875	40134872	2660	100517											
PDE6C	5146	broad.mit.edu	37	chr10	95399929	95399929	+	Frame_Shift_Del	DEL	T	T	-													ttaaatgtggaatacgactgTtttttgaaataaatgtggtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:95399928_95399928GT>G	uc001kiu.4	+	11	1722	c.1584_1584GT>G	c.(1582-1584)ctgfs	p.L528fs		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	528					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)				GAATACGACTGTTTTTTGAAA	0.423													-	95399929	T	-	95399929	7	5	189	1	0	1	0	1	0	0	0	0	11647	1725	60	0	1631	0	PDE6C	10	95399929	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	54	95399929	40134818	2661	100518											
PDE6C	5146	broad.mit.edu	37	chr10	95400298	95400298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaacgtggggcagaccaTgtttactttgctgatggtag	13	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:95400298T>G	uc001kiu.3	+	13	1859	c.1721T>G	c.(1720-1722)ATG>AGG	p.M574R		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	574					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				GGGCAGACCATGTTTACTTTG	0.448													G	95400298	T	G	95400298	3	3	189	1	0	0	0	0	1	0	0	0	11647	1464	51	5	1771	5	PDE6C	10	95400298	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	369	95400298	40134449	2662	100519											
PLCE1	51196	broad.mit.edu	37	chr10	96081696	96081696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgttcaagatgacaaagaGgtgatcttgagctcagagga	12	5	3	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:96081696G>T	uc001kjk.2	+	30	7015	c.6381G>T	c.(6379-6381)GAG>GAT	p.E2127D	PLCE1_uc010qnx.1_Missense_Mutation_p.E2111D|PLCE1_uc001kjm.2_Missense_Mutation_p.E1819D|PLCE1_uc001kjp.2_Missense_Mutation_p.E485D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2127					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			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				ATGACAAAGAGGTGATCTTGA	0.388													T	96081696	G	T	96081696	3	4	189	1	0	0	0	0	1	0	0	0	12034	991	35	5	6781	5	PLCE1	10	96081696	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	681398	96081696	39453051	2663	100520											
HELLS	3070	broad.mit.edu	37	chr10	96306134	96306134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctttctcccccgtcagGctcggaggctccagcaatgg	11	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:96306134G>A	uc001kjt.2	+	2	137	c.32G>A	c.(31-33)GGC>GAC	p.G11D	HELLS_uc001kjs.2_5'UTR|HELLS_uc009xul.2_Missense_Mutation_p.G11D|HELLS_uc009xum.2_Missense_Mutation_p.G11D|HELLS_uc009xun.2_5'UTR|HELLS_uc009xuo.2_Missense_Mutation_p.G11D|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_5'UTR|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	11					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			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CCCCCGTCAGGCTCGGAGGCT	0.488													A	96306134	G	A	96306134	3	1	189	1	0	0	0	0	1	0	0	0	7046	1217	42	2	38	2	HELLS	10	96306134	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	224438	96306134	39228613	2664	100521											
CYP2C18	1562	broad.mit.edu	37	chr10	96493085	96493085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataacatccctgacttctgTgctgcacaatgacaaagaat	6	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:96493085T>C	uc001kjv.3	+	8	1507	c.1181T>C	c.(1180-1182)GTG>GCG	p.V394A	CYP2C18_uc001kjw.3_Missense_Mutation_p.V335A|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	394					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)|skin(1)	5		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CTGACTTCTGTGCTGCACAAT	0.343													C	96493085	T	C	96493085	3	2	189	1	0	0	0	0	1	0	0	0	4165	1696	59	3	1211	3	CYP2C18	10	96493085	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	186951	96493085	39041662	2665	100522											
ALDH18A1	5832	broad.mit.edu	37	chr10	97387227	97387227	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacttctgaaaagaaggtAccaactttcttcccctccac	4	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:97387227A>G	uc001kkz.2	-	9	1292	c.1050T>C	c.(1048-1050)GGT>GGC	p.G350G	ALDH18A1_uc001kky.2_Silent_p.G348G|ALDH18A1_uc010qog.1_Silent_p.G239G|ALDH18A1_uc010qoh.1_Silent_p.G138G	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	350	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AAAAGAAGGTACCAACTTTCT	0.478													G	97387227	A	G	97387227	2	3	189	1	0	0	0	0	0	0	0	1	489	378	14	3		3	ALDH18A1	10	97387227	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	894142	97387227	38147520	2666	100523											
ALDH18A1	5832	broad.mit.edu	37	chr10	97392721	97392721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcattactttgtaccttctAcatctgaaagaacaatcaag	5	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:97392721A>G	uc001kkz.2	-	7	1045	c.803T>C	c.(802-804)GTA>GCA	p.V268A	ALDH18A1_uc001kky.2_Missense_Mutation_p.V266A|ALDH18A1_uc010qog.1_Missense_Mutation_p.V157A|ALDH18A1_uc010qoh.1_Missense_Mutation_p.V56A	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	268	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TGTACCTTCTACATCTGAAAG	0.378													G	97392721	A	G	97392721	3	3	189	1	0	0	0	0	1	0	0	0	489	391	14	3	1632	3	ALDH18A1	10	97392721	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5494	97392721	38142026	2667	100524											
ENTPD1	953	broad.mit.edu	37	chr10	97607278	97607278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaacgtaagtgaccttTacaagaccccctgcaccaag	8	12	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:97607278T>C	uc001klh.3	+	7	1213	c.889T>C	c.(889-891)TAC>CAC	p.Y297H	ENTPD1_uc001kli.3_Missense_Mutation_p.Y304H|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.Y309H|ENTPD1_uc010qok.1_Missense_Mutation_p.Y189H|ENTPD1_uc010qol.1_Missense_Mutation_p.Y189H|ENTPD1_uc010qom.1_Intron|ENTPD1_uc010qon.1_Missense_Mutation_p.Y159H|ENTPD1_uc009xva.2_Missense_Mutation_p.Y159H|ENTPD1_uc009xuz.2_Intron	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	297	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AAGTGACCTTTACAAGACCCC	0.418													C	97607278	T	C	97607278	3	2	189	1	0	0	0	0	1	0	0	0	5138	1754	61	3	1012	3	ENTPD1	10	97607278	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	214557	97607278	37927469	2668	100525											
ZNF518A	9849	broad.mit.edu	37	chr10	97916643	97916643	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacaatgagagtgtataTactttactgaacttgacaaa	7	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:97916643T>A	uc001klp.2	+	6	1421	c.564T>A	c.(562-564)TAT>TAA	p.Y188*	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Nonsense_Mutation_p.Y188*|ZNF518A_uc001klr.2_Nonsense_Mutation_p.Y188*	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGAGTGTATATACTTTACTGA	0.353													A	97916643	T	A	97916643	4	1	189	1	0	0	0	0	0	1	0	0	17959	1413	49	5	566	5	ZNF518A	10	97916643	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	309365	97916643	37618104	2669	100526											
ZNF518A	9849	broad.mit.edu	37	chr10	97918869	97918869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacaaaaaaaaactatAattgttcagacttcaaaagg	5	6	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:97918869A>G	uc001klp.2	+	6	3647	c.2790A>G	c.(2788-2790)ATA>ATG	p.I930M	ZNF518A_uc001klo.1_Missense_Mutation_p.I400M|ZNF518A_uc001klq.2_Missense_Mutation_p.I930M|ZNF518A_uc001klr.2_Missense_Mutation_p.I930M	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAAAACTATAATTGTTCAGA	0.348													G	97918869	A	G	97918869	3	3	189	1	0	0	0	0	1	0	0	0	17959	352	13	3	2792	3	ZNF518A	10	97918869	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2226	97918869	37615878	2670	100527											
ZNF518A	9849	broad.mit.edu	37	chr10	97920061	97920061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattccatcagaactttgCggcttttcccttttagttct	6	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:97920061C>T	uc001klp.2	+	6	4839	c.3982C>T	c.(3982-3984)CGG>TGG	p.R1328W	ZNF518A_uc001klo.1_Missense_Mutation_p.R798W|ZNF518A_uc001klq.2_Missense_Mutation_p.R1328W|ZNF518A_uc001klr.2_Missense_Mutation_p.R1328W	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAGAACTTTGCGGCTTTTCCC	0.393													T	97920061	C	T	97920061	3	4	189	1	0	0	0	0	1	0	0	0	17959	759	27	1	3984	1	ZNF518A	10	97920061	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1192	97920061	37614686	2671	100528											
TM9SF3	56889	broad.mit.edu	37	chr10	98287919	98287919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttatatgcccagaaagaCgtgaagatgaaatacctaag	8	7	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:98287919C>T	uc001kmm.3	-	12	1627	c.1410G>A	c.(1408-1410)ACG>ACA	p.T470T	TM9SF3_uc010qot.1_Silent_p.T470T	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	470						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CCCAGAAAGACGTGAAGATGA	0.393													T	98287919	C	T	98287919	2	4	189	1	0	0	0	0	0	0	0	1	15976	523	19	1		1	TM9SF3	10	98287919	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	367858	98287919	37246828	2672	100529											
C10orf12	26148	broad.mit.edu	37	chr10	98743848	98743849	+	Frame_Shift_Ins	INS	-	-	C													tcgccttccaggagacgttcINScccctgtcaagcatcctctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:98743847_98743848T>TC	uc001kmv.3	+	0	2807_2808	c.2700_2701T>TC	c.(2698-2703)gttcccfs	p.V900fs		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	900										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)		CAGGAGACGTTCCCCCTGTCAA	0.436													C	98743849	-	C	98743848	7	5	189	1	0	1	1	0	0	0	0	0	1589	855	30	0	2703	0	C10orf12	10	98743848	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	455929	98743848	36790899	2673	100530											
RRP12	23223	broad.mit.edu	37	chr10	99126849	99126849	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccgaagcttcatgcggaagTgccgccgcatgtcatctgaa	11	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:99126849T>A	uc001knf.2	-	26	3135	c.2996A>T	c.(2995-2997)CAC>CTC	p.H999L	RRP12_uc001kne.2_Missense_Mutation_p.H14L|RRP12_uc009xvl.2_Missense_Mutation_p.H116L|RRP12_uc009xvm.2_Missense_Mutation_p.H717L|RRP12_uc010qou.1_Missense_Mutation_p.H938L|RRP12_uc009xvn.2_Missense_Mutation_p.H899L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	999						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CATGCGGAAGTGCCGCCGCAT	0.607													A	99126849	T	A	99126849	3	1	189	1	0	0	0	0	1	0	0	0	13686	1696	59	5	933	5	RRP12	10	99126849	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	383001	99126849	36407898	2674	100531											
RRP12	23223	broad.mit.edu	37	chr10	99132949	99132949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgactcacttcagcacGgtcagcctctggtaaaagga	10	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:99132949G>A	uc001knf.2	-	18	2174	c.2035C>T	c.(2035-2037)CGT>TGT	p.R679C	RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.R397C|RRP12_uc010qou.1_Missense_Mutation_p.R618C|RRP12_uc009xvn.2_Missense_Mutation_p.R579C	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	679						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACTTCAGCACGGTCAGCCTCT	0.607													A	99132949	G	A	99132949	3	1	189	1	0	0	0	0	1	0	0	0	13686	1116	39	1	1926	1	RRP12	10	99132949	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6100	99132949	36401798	2675	100532											
RRP12	23223	broad.mit.edu	37	chr10	99148278	99148278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatctcctggatgcagaacTtggcagtggaaatggcagca	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:99148278T>C	uc001knf.2	-	7	996	c.857A>G	c.(856-858)AAG>AGG	p.K286R	RRP12_uc009xvm.2_Intron|RRP12_uc010qou.1_Missense_Mutation_p.K225R|RRP12_uc009xvn.2_Missense_Mutation_p.K186R	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	286						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GATGCAGAACTTGGCAGTGGA	0.582													C	99148278	T	C	99148278	3	2	189	1	0	0	0	0	1	0	0	0	13686	1609	56	3	3148	3	RRP12	10	99148278	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	15329	99148278	36386469	2676	100533											
UBTD1	80019	broad.mit.edu	37	chr10	99330203	99330203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctcacagaccgcacaCggctccaggagaccaagatc	10	15	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:99330203C>T	uc001knv.1	+	3	800	c.607C>T	c.(607-609)CGG>TGG	p.R203W	ANKRD2_uc001knw.2_5'Flank|ANKRD2_uc009xvu.2_5'Flank	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	203	Ubiquitin-like.										0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		AGACCGCACACGGCTCCAGGA	0.622													T	99330203	C	T	99330203	3	4	189	1	0	0	0	0	1	0	0	0	16904	527	19	1	617	1	UBTD1	10	99330203	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	181925	99330203	36204544	2677	100534											
ZFYVE27	118813	broad.mit.edu	37	chr10	99498302	99498302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatgcccgaggctccccTggagtctccaccttttccta	9	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:99498302T>C	uc001koo.2	+	2	268	c.68T>C	c.(67-69)CTG>CCG	p.L23P	ZFYVE27_uc001kon.2_Missense_Mutation_p.L23P|ZFYVE27_uc001koq.2_Missense_Mutation_p.L23P|ZFYVE27_uc010qpa.1_Missense_Mutation_p.L23P|ZFYVE27_uc001kop.2_Missense_Mutation_p.L23P|ZFYVE27_uc010qpb.1_Intron|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.L23P|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Missense_Mutation_p.L23P|ZFYVE27_uc001kom.1_Missense_Mutation_p.L23P	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27 isoform	23	Cytoplasmic (Potential).				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			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GAGGCTCCCCTGGAGTCTCCA	0.488													C	99498302	T	C	99498302	3	2	189	1	0	0	0	0	1	0	0	0	17666	1580	55	3	70	3	ZFYVE27	10	99498302	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	168099	99498302	36036445	2678	100535											
LOXL4	84171	broad.mit.edu	37	chr10	100012116	100012116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaccacatacctgtggGgcagtttgtgtcctccagac	11	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:100012116G>A	uc001kpa.1	-	12	2096	c.1945C>T	c.(1945-1947)CCC>TCC	p.P649S		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	649	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		ATACCTGTGGGGCAGTTTGTG	0.537													A	100012116	G	A	100012116	3	1	189	1	0	0	0	0	1	0	0	0	8902	1232	43	4	341	4	LOXL4	10	100012116	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	513814	100012116	35522631	2679	100536											
PYROXD2	84795	broad.mit.edu	37	chr10	100167720	100167720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcgcctctcgaagacgGcggtgttcacccccagtctc	11	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:100167720G>A	uc001kpc.2	-	3	268	c.182C>T	c.(181-183)GCC>GTC	p.A61V	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.A61V	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	61	FAD (Potential).						oxidoreductase activity			central_nervous_system(1)	1						CTCGAAGACGGCGGTGTTCAC	0.627													A	100167720	G	A	100167720	3	1	189	1	0	0	0	0	1	0	0	0	12867	1203	42	2	1619	2	PYROXD2	10	100167720	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	155604	100167720	35367027	2680	100537											
SLC25A28	81894	broad.mit.edu	37	chr10	101373648	101373648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacattgcgatagcgggCagctgggtcaggctgtagac	14	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:101373648C>T	uc001kpx.2	-	2	454	c.325G>A	c.(325-327)GCC>ACC	p.A109T	SLC25A28_uc001kpy.2_5'UTR|SLC25A28_uc009xwk.1_Missense_Mutation_p.A109T	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	109	Solcar 1.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CGATAGCGGGCAGCTGGGTCA	0.572													T	101373648	C	T	101373648	3	4	189	1	0	0	0	0	1	0	0	0	14491	710	25	2	781	2	SLC25A28	10	101373648	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1205928	101373648	34161099	2681	100538											
ABCC2	1244	broad.mit.edu	37	chr10	101567244	101567244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtcaactacagtgtgTagtaatattcgtcttccagt	7	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:101567244T>C	uc001kqf.2	+	12	1773	c.1634T>C	c.(1633-1635)GTA>GCA	p.V545A		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	545	ABC transmembrane type-1 1.|Helical; Name=10; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		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)	CTACAGTGTGTAGTAATATTC	0.478													C	101567244	T	C	101567244	3	2	189	1	0	0	0	0	1	0	0	0	53	1638	57	3	1680	3	ABCC2	10	101567244	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	193596	101567244	33967503	2682	100539											
ABCC2	1244	broad.mit.edu	37	chr10	101591749	101591749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaggtatatttgtgttcaTagcacatttctggagtgcct	9	7	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:101591749T>C	uc001kqf.2	+	23	3258	c.3119T>C	c.(3118-3120)ATA>ACA	p.I1040T		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1040	ABC transmembrane type-1 2.|Helical; Name=13; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		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)	TTTGTGTTCATAGCACATTTC	0.433													C	101591749	T	C	101591749	3	2	189	1	0	0	0	0	1	0	0	0	53	1406	49	3	3209	3	ABCC2	10	101591749	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	24505	101591749	33942998	2683	100540											
DNMBP	23268	broad.mit.edu	37	chr10	101656041	101656041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgaggagcaaagccagTgagatgcttcaggtgactgc	13	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:101656041T>C	uc001kqj.2	-	10	3126	c.3034A>G	c.(3034-3036)ACT>GCT	p.T1012A	DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.T300A|DNMBP_uc001kqh.2_Missense_Mutation_p.T644A	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1012	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCAAAGCCAGTGAGATGCTTC	0.488													C	101656041	T	C	101656041	3	2	189	1	0	0	0	0	1	0	0	0	4674	1696	59	3	1731	3	DNMBP	10	101656041	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	64292	101656041	33878706	2684	100541											
CHUK	1147	broad.mit.edu	37	chr10	101969415	101969417	+	In_Frame_Del	DEL	AAG	AAG	-													agagaaattcctgtctctgaAagaagttcttgagaaccagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:101969414_101969416AAAG>A	uc001kqp.3	-	9	1119_1121	c.1064_1066CTTT>T	c.(1063-1068)ctttca>cTca	p.S356del		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	356					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|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|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|IkappaB kinase activity|identical protein binding			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)		CCTGTCTCTGAAAGAAGTTCTTG	0.365													-	101969417	AAG	-	101969415	7	5	189	1	0	1	0	1	0	0	0	0	3416	1	1	0	1220	0	CHUK	10	101969415	In_Frame_Del	DEL	AAG	TCGA-CG-5721-01A-11D-1600-08	313374	101969415	33565332	2685	100542											
SEC31B	25956	broad.mit.edu	37	chr10	102249885	102249885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtgtgggagaccatgcGgccgggacctagtggtctca	18	9	1	1	rs146812157	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:102249885G>A	uc001krc.1	-	21	2947	c.2845C>T	c.(2845-2847)CGC>TGC	p.R949C	SEC31B_uc010qpo.1_Missense_Mutation_p.R948C|SEC31B_uc001krd.1_Missense_Mutation_p.R486C|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	949	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GAGACCATGCGGCCGGGACCT	0.627													A	102249885	G	A	102249885	3	1	189	1	0	0	0	0	1	0	0	0	13999	1116	39	1	718	1	SEC31B	10	102249885	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	280470	102249885	33284862	2686	100543											
PAX2	5076	broad.mit.edu	37	chr10	102509529	102509530	+	Frame_Shift_Ins	INS	-	-	G													cgggggtgtgaaccagctcgINSggggggtgtttgtgaacggc					rs75462234		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:102509528_102509529C>CG	uc001krk.4	+	1	619_620	c.69_70C>CG	c.(67-72)ctcgggfs	p.L23fs	PAX2_uc001krm.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001krn.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001kro.4_Frame_Shift_Ins_p.L23fs|PAX2_uc010qps.2_Frame_Shift_Ins_p.L22fs|PAX2_uc001krl.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001krp.1_Frame_Shift_Ins_p.L27fs	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	23	Paired.				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)		TGAACCAGCTCGGGGGGGTGTT	0.663													G	102509530	-	G	102509529	7	5	189	1	0	1	1	0	0	0	0	0	11479	1116	39	0	76	0	PAX2	10	102509529	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	259644	102509529	33025218	2687	100544											
FAM178A	55719	broad.mit.edu	37	chr10	102690834	102690834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttaaagtggctgtttcGggtaagaggaatgtttagag	15	2	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:102690834G>A	uc001krt.3	+	9	2977	c.2435G>A	c.(2434-2436)CGG>CAG	p.R812Q	FAM178A_uc001krs.2_Missense_Mutation_p.R812Q	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	812											0						TGGCTGTTTCGGGTAAGAGGA	0.363													A	102690834	G	A	102690834	3	1	189	1	0	0	0	0	1	0	0	0	5503	1130	39	1	2469	1	FAM178A	10	102690834	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	181305	102690834	32843913	2688	100545											
FBXW4	6468	broad.mit.edu	37	chr10	103371117	103371117	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagatgcttggtggtgagAcgcaggcagtacacagggct	16	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:103371117A>G	uc001kto.2	-	9	1516	c.1170T>C	c.(1168-1170)CGT>CGC	p.R390R		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	390					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TGGTGGTGAGACGCAGGCAGT	0.597													G	103371117	A	G	103371117	2	3	189	1	0	0	0	0	0	0	0	1	5767	262	10	3		3	FBXW4	10	103371117	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	680283	103371117	32163630	2689	100546											
MGEA5	10724	broad.mit.edu	37	chr10	103553747	103553747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtgctgaagaatgacTacgacaccctgttgagatca	10	8	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:103553747T>C	uc001ktv.2	-	11	2436	c.1993A>G	c.(1993-1995)AGT>GGT	p.S665G	MGEA5_uc001ktu.2_Intron|MGEA5_uc010qqe.1_Missense_Mutation_p.S612G|MGEA5_uc009xws.2_Missense_Mutation_p.S612G	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	665	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAAGAATGACTACGACACCCT	0.458													C	103553747	T	C	103553747	3	2	189	1	0	0	0	0	1	0	0	0	9555	1522	53	3	781	3	MGEA5	10	103553747	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	182630	103553747	31981000	2690	100547											
MGEA5	10724	broad.mit.edu	37	chr10	103560141	103560141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatctggatggacacagtActatcttcactgtcagctgc	8	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:103560141A>G	uc001ktv.2	-	8	1496	c.1053T>C	c.(1051-1053)AGT>AGC	p.S351S	MGEA5_uc001ktu.2_5'Flank|MGEA5_uc010qqe.1_Intron|MGEA5_uc009xws.2_Intron|MGEA5_uc001ktw.2_Silent_p.S351S|MGEA5_uc009xwt.2_Silent_p.S114S	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	351					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGGACACAGTACTATCTTCAC	0.328													G	103560141	A	G	103560141	2	3	189	1	0	0	0	0	0	0	0	1	9555	388	14	3		3	MGEA5	10	103560141	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6394	103560141	31974606	2691	100548											
NOLC1	9221	broad.mit.edu	37	chr10	103919299	103919300	+	Frame_Shift_Ins	INS	-	-	A													agtgacgaggaagaggagcaINSaaaaaaacccatgaaaaata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:103919298_103919299C>CA	uc001kup.2	+	6	1097_1098	c.862_863C>CA	c.(862-864)caafs	p.Q288fs	NOLC1_uc001kuo.2_Frame_Shift_Ins_p.Q278fs|NOLC1_uc001kuq.2_Frame_Shift_Ins_p.Q279fs|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	278	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)		GGAAGAGGAGCAAAAAAAACCC	0.525													A	103919300	-	A	103919299	7	5	189	1	0	1	1	0	0	0	0	0	10529	130	5	0	859	0	NOLC1	10	103919299	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	359158	103919299	31615448	2692	100549											
PITX3	5309	broad.mit.edu	37	chr10	103990855	103990855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgccggttcttgaaccAcacctgcgggcacgggagaa	15	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:103990855A>G	uc001kuu.1	-	4	479	c.325T>C	c.(325-327)TGG>CGG	p.W109R		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	109	Homeobox.				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCTTGAACCACACCTGCGGG	0.751													G	103990855	A	G	103990855	3	3	189	1	0	0	0	0	1	0	0	0	11956	159	6	3	587	3	PITX3	10	103990855	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	71556	103990855	31543892	2693	100550											
GBF1	8729	broad.mit.edu	37	chr10	104127249	104127249	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggagtttcgcaaaaaTctgaaaggtgtgaatggagg	13	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104127249T>A	uc001kux.1	+	21	2811	c.2571T>A	c.(2569-2571)AAT>AAA	p.N857K	GBF1_uc001kuy.1_Missense_Mutation_p.N857K|GBF1_uc001kuz.1_Missense_Mutation_p.N858K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	857	SEC7.				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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTCGCAAAAATCTGAAAGGTG	0.448													A	104127249	T	A	104127249	3	1	189	1	0	0	0	0	1	0	0	0	6271	1432	50	5	2649	5	GBF1	10	104127249	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	136394	104127249	31407498	2694	100551											
GBF1	8729	broad.mit.edu	37	chr10	104129053	104129053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccatttggcccatcgtcAtggtgacatcctgcgggagg	12	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104129053A>G	uc001kux.1	+	24	3296	c.3056A>G	c.(3055-3057)CAT>CGT	p.H1019R	GBF1_uc001kuy.1_Missense_Mutation_p.H1019R|GBF1_uc001kuz.1_Missense_Mutation_p.H1020R	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1019					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCCCATCGTCATGGTGACATC	0.498													G	104129053	A	G	104129053	3	3	189	1	0	0	0	0	1	0	0	0	6271	217	8	3	3146	3	GBF1	10	104129053	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1804	104129053	31405694	2695	100552											
GBF1	8729	broad.mit.edu	37	chr10	104129985	104129985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctccagctggagtcaCtacaggagctcatgaaggta	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104129985C>T	uc001kux.1	+	27	3631	c.3391C>T	c.(3391-3393)CTA>TTA	p.L1131L	GBF1_uc001kuy.1_Silent_p.L1131L|GBF1_uc001kuz.1_Silent_p.L1132L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1131					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCTGGAGTCACTACAGGAGCT	0.473													T	104129985	C	T	104129985	2	4	189	1	0	0	0	0	0	0	0	1	6271	564	20	4		4	GBF1	10	104129985	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	932	104129985	31404762	2696	100553											
CUEDC2	79004	broad.mit.edu	37	chr10	104183602	104183602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttttgggggcctctgagGcgtctgggcaggtcctgcag	16	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104183602G>A	uc001kvn.2	-	7	760	c.609C>T	c.(607-609)CGC>CGT	p.R203R	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	CUE domain containing 2	203						cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCTCTGAGGCGTCTGGGCA	0.537													A	104183602	G	A	104183602	2	1	189	1	0	0	0	0	0	0	0	1	4053	1190	42	2		2	CUEDC2	10	104183602	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	53617	104183602	31351145	2697	100554											
SUFU	51684	broad.mit.edu	37	chr10	104268964	104268964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggactatgttagcatgtAcaggaatgtggggagccctt	13	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104268964A>G	uc001kvy.1	+	2	367	c.221A>G	c.(220-222)TAC>TGC	p.Y74C	SUFU_uc001kvw.1_Missense_Mutation_p.Y74C|SUFU_uc001kvx.2_Missense_Mutation_p.Y74C	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	74					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			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GTTAGCATGTACAGGaatgtg	0.259			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				G	104268964	A	G	104268964	3	3	189	1	0	0	0	0	1	0	0	0	15367	391	14	3	227	3	SUFU	10	104268964	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	85362	104268964	31265783	2698	100555											
SUFU	51684	broad.mit.edu	37	chr10	104389822	104389822	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttgctccctccacaGttcaaacttcccaaagagta	6	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104389822G>A	uc001kvy.1	+	12	1512	c.1366_splice	c.e12-1	p.F456_splice	SUFU_uc009xxe.1_Splice_Site|SUFU_uc009xxf.1_Splice_Site	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused						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			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCCTCCACAGTTCAAACTTC	0.562			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				A	104389822	G	A	104389822	5	1	189	1	0	0	0	0	0	0	1	0	15367	1043	36	4	1421	4	SUFU	10	104389822	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	120858	104389822	31144925	2699	100556											
C10orf26	54838	broad.mit.edu	37	chr10	104557834	104557834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagtctcagtgctgcaacTactactatgaactctggtgt	9	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104557834T>C	uc001kwe.3	+	2	372	c.112T>C	c.(112-114)TAC>CAC	p.Y38H	C10orf26_uc001kwf.3_Missense_Mutation_p.Y59H|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	38						integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTGCTGCAACTACTACTATGA	0.473													C	104557834	T	C	104557834	3	2	189	1	0	0	0	0	1	0	0	0	1599	1522	53	3	212	3	C10orf26	10	104557834	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	168012	104557834	30976913	2700	100557											
AS3MT	57412	broad.mit.edu	37	chr10	104638614	104638614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctatttttaggtgactgtCgttttgtttctgcaacattt	7	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:104638614C>T	uc001kwk.2	+	9	891	c.751C>T	c.(751-753)CGT>TGT	p.R251C	AS3MT_uc001kwj.2_Missense_Mutation_p.R253C|AS3MT_uc009xxh.2_Missense_Mutation_p.R251C	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	251					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		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)		AGGTGACTGTCGTTTTGTTTC	0.413													T	104638614	C	T	104638614	3	4	189	1	0	0	0	0	1	0	0	0	1005	884	31	1	785	1	AS3MT	10	104638614	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	80780	104638614	30896133	2701	100558											
USMG5	84833	broad.mit.edu	37	chr10	105151956	105151956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcttaccatttatgTtgctttcacagctggagttt	6	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:105151956T>C	uc001kww.1	-	4	435	c.172A>G	c.(172-174)ACA>GCA	p.T58A	USMG5_uc001kwx.1_RNA	NM_032747	NP_116136	Q96IX5	USMG5_HUMAN	upregulated during skeletal muscle growth 5	58						integral to membrane					0		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		ACCATTTATGTTGCTTTCACA	0.308													C	105151956	T	C	105151956	3	2	189	1	0	0	0	0	1	0	0	0	17035	1725	60	3	8	3	USMG5	10	105151956	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	513342	105151956	30382791	2702	100559											
CALHM1	255022	broad.mit.edu	37	chr10	105217967	105217967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcacctgggagatgcagCggaggtaacgcacggccacc	13	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:105217967C>T	uc001kxe.2	-	1	682	c.542G>A	c.(541-543)CGC>CAC	p.R181H		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	181						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1						GGAGATGCAGCGGAGGTAACG	0.677													T	105217967	C	T	105217967	3	4	189	1	0	0	0	0	1	0	0	0	2582	768	27	1	506	1	CALHM1	10	105217967	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	66011	105217967	30316780	2703	100560											
C10orf79	80217	broad.mit.edu	37	chr10	105920859	105920859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcataatctttgaattgtTttctttcttcttcagtccac	3	10	6	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:105920859T>C	uc001kxw.2	-	27	3592	c.3476A>G	c.(3475-3477)AAA>AGA	p.K1159R	C10orf79_uc009xxq.2_Missense_Mutation_p.K467R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1159	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTTGAATTGTTTTCTTTCTTC	0.328													C	105920859	T	C	105920859	3	2	189	1	0	0	0	0	1	0	0	0	1618	1841	64	3	1569	3	C10orf79	10	105920859	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	702892	105920859	29613888	2704	100561											
SORCS1	114815	broad.mit.edu	37	chr10	108434854	108434854	+	Frame_Shift_Del	DEL	A	A	-													tcacccagaaccccatccacAaaaagtggaatagatgtgaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:108434853_108434853CA>C	uc001kyl.3	-	13	2076	c.1894_1894TG>G	c.(1894-1896)gtgfs	p.V632fs	SORCS1_uc021pxw.1_Frame_Shift_Del_p.V632fs|SORCS1_uc009xxs.3_Frame_Shift_Del_p.V632fs|SORCS1_uc001kym.3_Frame_Shift_Del_p.V632fs|SORCS1_uc001kyn.2_Frame_Shift_Del_p.V632fs|SORCS1_uc001kyo.3_Frame_Shift_Del_p.V632fs	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	632						integral to membrane	neuropeptide receptor activity|protein binding	p.F631C(1)		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)		ACCCCATCCACAAAAAGTGGA	0.393													-	108434854	A	-	108434854	7	5	189	1	0	1	0	1	0	0	0	0	14930	127	5	0	1899	0	SORCS1	10	108434854	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	2513995	108434854	27099893	2705	100562											
SORCS1	114815	broad.mit.edu	37	chr10	108489875	108489875	+	Splice_Site	DEL	A	A	-													tttgaccccatcacagacctAaaaaatggagaaacatgaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:108489874_108489874TA>T	uc001kyl.3	-	6	1142	c.960_splice	c.e6-1	p.W320_splice	SORCS1_uc021pxw.1_Splice_Site_p.W320_splice|SORCS1_uc009xxs.3_Splice_Site_p.W320_splice|SORCS1_uc001kym.3_Splice_Site_p.W320_splice|SORCS1_uc001kyn.2_Splice_Site_p.W320_splice|SORCS1_uc001kyo.3_Splice_Site_p.W320_splice	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	320						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)		ATCACAGACCTAAAAAATGGA	0.423													-	108489875	A	-	108489875	8	5	189	1	0	1	0	1	0	0	1	0	14930	377	13	0		0	SORCS1	10	108489875	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	55021	108489875	27044872	2706	100563											
SHOC2	8036	broad.mit.edu	37	chr10	112769489	112769489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattagtcttgacaaacAaccagttgaccactcttccc	5	12	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:112769489A>G	uc001kzl.3	+	8	1790	c.1441A>G	c.(1441-1443)AAC>GAC	p.N481D	SHOC2_uc009xxx.2_Missense_Mutation_p.N481D|SHOC2_uc010qrg.1_Missense_Mutation_p.N120D|SHOC2_uc001kzn.2_Missense_Mutation_p.N435D	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	481	LRR 17.				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			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTTGACAAACAACCAGTTGAC	0.343													G	112769489	A	G	112769489	3	3	189	1	0	0	0	0	1	0	0	0	14287	130	5	3	1467	3	SHOC2	10	112769489	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4279614	112769489	22765258	2707	100564											
GPAM	57678	broad.mit.edu	37	chr10	113935430	113935430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatctcgctcttgaataAaaagaacgtaagaaaggcgt	9	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:113935430A>G	uc009xxy.1	-	6	539	c.341T>C	c.(340-342)TTT>TCT	p.F114S	GPAM_uc001kzp.2_Missense_Mutation_p.F114S|GPAM_uc001kzq.1_Missense_Mutation_p.F114S	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	114					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		CTCTTGAATAAAAAGAACGTA	0.448													G	113935430	A	G	113935430	3	3	189	1	0	0	0	0	1	0	0	0	6588	14	1	3	2213	3	GPAM	10	113935430	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1165941	113935430	21599317	2708	100565											
GPAM	57678	broad.mit.edu	37	chr10	113937763	113937763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgagtttcattgataTaaataacattccgcaaaccc	6	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:113937763T>C	uc009xxy.1	-	5	476	c.278A>G	c.(277-279)TAT>TGT	p.Y93C	GPAM_uc001kzp.2_Missense_Mutation_p.Y93C|GPAM_uc001kzq.1_Missense_Mutation_p.Y93C	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	93					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		TTCATTGATATAAATAACATT	0.289													C	113937763	T	C	113937763	3	2	189	1	0	0	0	0	1	0	0	0	6588	1406	49	3	2280	3	GPAM	10	113937763	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2333	113937763	21596984	2709	100566											
TDRD1	56165	broad.mit.edu	37	chr10	115980582	115980582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taataaacatgagcttcaagTtcatgtacagggacttcaag	8	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:115980582T>C	uc001lbg.1	+	19	2903	c.2750T>C	c.(2749-2751)GTT>GCT	p.V917A	TDRD1_uc001lbf.2_Missense_Mutation_p.V794A|TDRD1_uc001lbh.1_Missense_Mutation_p.V908A|TDRD1_uc001lbi.1_Missense_Mutation_p.V908A|TDRD1_uc010qsc.1_Missense_Mutation_p.V521A|TDRD1_uc001lbj.2_Missense_Mutation_p.V626A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	917					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				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAGCTTCAAGTTCATGTACAG	0.299													C	115980582	T	C	115980582	3	2	189	1	0	0	0	0	1	0	0	0	15727	1725	60	3	2820	3	TDRD1	10	115980582	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2042819	115980582	19554165	2710	100567											
VWA2	340706	broad.mit.edu	37	chr10	116046098	116046098	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgcgggcccagcgcgTcacgcaagggcgcgagagct	18	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:116046098T>C	uc001lbl.1	+	11	1719	c.1398T>C	c.(1396-1398)CGT>CGC	p.R466R	VWA2_uc001lbk.1_Silent_p.R466R|VWA2_uc009xyf.1_Silent_p.R162R	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	466	VWFA 2.					extracellular region		p.R466H(1)		ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GCCCAGCGCGTCACGCAAGGG	0.647													C	116046098	T	C	116046098	2	2	189	1	0	0	0	0	0	0	0	1	17236	1654	58	3		3	VWA2	10	116046098	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	65516	116046098	19488649	2711	100568											
FAM160B1	57700	broad.mit.edu	37	chr10	116602927	116602927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgccagaggcctcggttgTttgtccaaatcaggattaca	10	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:116602927T>C	uc001lcb.2	+	6	1093	c.758T>C	c.(757-759)GTT>GCT	p.V253A	FAM160B1_uc001lcc.2_Missense_Mutation_p.V253A	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	253										lung(1)	1						GCCTCGGTTGTTTGTCCAAAT	0.423													C	116602927	T	C	116602927	3	2	189	1	0	0	0	0	1	0	0	0	5470	1725	60	3	780	3	FAM160B1	10	116602927	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	556829	116602927	18931820	2712	100569											
FAM160B1	57700	broad.mit.edu	37	chr10	116603563	116603563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtaagtttgccagagcctGcggctgcaaagtgccttaca	11	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:116603563G>A	uc001lcb.2	+	7	1215	c.880G>A	c.(880-882)GCG>ACG	p.A294T	FAM160B1_uc001lcc.2_Missense_Mutation_p.A294T	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	294										lung(1)	1						GCCAGAGCCTGCGGCTGCAAA	0.473													A	116603563	G	A	116603563	3	1	189	1	0	0	0	0	1	0	0	0	5470	1319	46	2	906	2	FAM160B1	10	116603563	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	636	116603563	18931184	2713	100570											
TRUB1	142940	broad.mit.edu	37	chr10	116731926	116731926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaagatggacaaagacTttcgactttgatgaagagag	11	4	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:116731926T>C	uc001lcd.2	+	6	690	c.629T>C	c.(628-630)CTT>CCT	p.L210P	TRUB1_uc010qsl.1_Missense_Mutation_p.L112P	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	210					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GGACAAAGACTTTCGACTTTG	0.418													C	116731926	T	C	116731926	3	2	189	1	0	0	0	0	1	0	0	0	16599	1609	56	3	651	3	TRUB1	10	116731926	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	128363	116731926	18802821	2714	100571											
ATRNL1	26033	broad.mit.edu	37	chr10	116930924	116930924	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcttggacatggtcagCagtatgctgtggagggacat	14	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:116930924C>T	uc001lcg.2	+	8	1608	c.1222C>T	c.(1222-1224)CAG>TAG	p.Q408*	ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Nonsense_Mutation_p.Q408*|ATRNL1_uc009xyq.2_Silent_p.S378S	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	408	Kelch 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		ACATGGTCAGCAGTATGCTGT	0.363													T	116930924	C	T	116930924	4	4	189	1	0	0	0	0	0	1	0	0	1207	711	25	2	1252	2	ATRNL1	10	116930924	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	198998	116930924	18603823	2715	100572											
GFRA1	2674	broad.mit.edu	37	chr10	117884972	117884972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggacacgctggtggtgcacGgggtgatgtacgccgacctg	17	10	0	1	rs77730201		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:117884972G>T	uc001lcj.2	-	6	1228	c.530C>A	c.(529-531)CCG>CAG	p.P177Q	GFRA1_uc001lci.2_Missense_Mutation_p.P172Q|GFRA1_uc009xyr.2_Missense_Mutation_p.P172Q	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	177	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGTGGTGCACGGGGTGATGTA	0.592													T	117884972	G	T	117884972	3	4	189	1	0	0	0	0	1	0	0	0	6347	1116	39	5	891	5	GFRA1	10	117884972	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	954048	117884972	17649775	2716	100573											
HSPA12A	259217	broad.mit.edu	37	chr10	118439100	118439100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcagggtgatgttcagCgggttagttctgtctggggc	18	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:118439100C>T	uc001lct.2	-	10	1305	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	HSPA12A_uc001lcu.2_Silent_p.P317P	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	400							ATP binding			ovary(1)	1				all cancers(201;0.0158)		TGATGTTCAGCGGGTTAGTTC	0.512													T	118439100	C	T	118439100	2	4	189	1	0	0	0	0	0	0	0	1	7404	755	27	1		1	HSPA12A	10	118439100	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	554128	118439100	17095647	2717	100574											
PDZD8	118987	broad.mit.edu	37	chr10	119043331	119043331	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgtctgacgtgttgggTgtgtgttttggtgaaggttc	16	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:119043331T>C	uc001lde.1	-	5	3112	c.2913A>G	c.(2911-2913)ACA>ACG	p.T971T		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	971					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		ACGTGTTGGGTGTGTGTTTTG	0.438													C	119043331	T	C	119043331	2	2	189	1	0	0	0	0	0	0	0	1	11705	1683	59	3		3	PDZD8	10	119043331	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	604231	119043331	16491416	2718	100575											
PDZD8	118987	broad.mit.edu	37	chr10	119043801	119043801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcttcaaccaaatgggGttctttttctttttctacgt	5	9	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:119043801G>A	uc001lde.1	-	5	2642	c.2443C>T	c.(2443-2445)CCC>TCC	p.P815S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	815					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		ACCAAATGGGGTTCTTTTTCT	0.353													A	119043801	G	A	119043801	3	1	189	1	0	0	0	0	1	0	0	0	11705	1261	44	4	1025	4	PDZD8	10	119043801	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	470	119043801	16490946	2719	100576											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798815	119798815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgttgcaaatttttggggTaatgaagcagtcacatttgt	11	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:119798815T>C	uc001ldj.1	-	3	1373	c.933A>G	c.(931-933)TTA>TTG	p.L311L	RAB11FIP2_uc009xyz.1_Silent_p.L311L	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	311					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		ATTTTTGGGGTAATGAAGCAG	0.368													C	119798815	T	C	119798815	2	2	189	1	0	0	0	0	0	0	0	1	12894	1635	57	3		3	RAB11FIP2	10	119798815	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	755014	119798815	15735932	2720	100577											
SFXN4	119559	broad.mit.edu	37	chr10	120921921	120921921	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgcctcgagttttctatActttcctaaaatcagatatc	5	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:120921921A>G	uc001leb.2	-	3	228	c.183T>C	c.(181-183)AGT>AGC	p.S61S	SFXN4_uc001ldy.2_5'Flank|SFXN4_uc001ldz.2_5'UTR|SFXN4_uc001lea.2_RNA	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	61					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AGTTTTCTATACTTTCCTAAA	0.453													G	120921921	A	G	120921921	2	3	189	1	0	0	0	0	0	0	0	1	14197	388	14	3		3	SFXN4	10	120921921	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1123106	120921921	14612826	2721	100578											
BAG3	9531	broad.mit.edu	37	chr10	121436385	121436385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggagcaggctgtagAcaactttgaaggcaagaaga	16	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:121436385A>G	uc001lem.2	+	4	1625	c.1319A>G	c.(1318-1320)GAC>GGC	p.D440G	BAG3_uc001lel.2_Missense_Mutation_p.D439G	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	440	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CAGGCTGTAGACAACTTTGAA	0.532													G	121436385	A	G	121436385	3	3	189	1	0	0	0	0	1	0	0	0	1288	275	10	3	1333	3	BAG3	10	121436385	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	514464	121436385	14098362	2722	100579											
INPP5F	22876	broad.mit.edu	37	chr10	121586661	121586661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttcagagattactgTtgctcatgggagtgggcttg	13	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:121586661T>C	uc001leo.2	+	20	2934	c.2768T>C	c.(2767-2769)GTT>GCT	p.V923A	INPP5F_uc001lep.2_Missense_Mutation_p.V313A	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	923							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GAGATTACTGTTGCTCATGGG	0.507													C	121586661	T	C	121586661	3	2	189	1	0	0	0	0	1	0	0	0	7758	1725	60	3	2846	3	INPP5F	10	121586661	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	150276	121586661	13948086	2723	100580											
SEC23IP	11196	broad.mit.edu	37	chr10	121658045	121658045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggtatcaagcagcagTgatccttttgggaatattgg	11	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:121658045T>C	uc001leu.1	+	2	342	c.270T>C	c.(268-270)AGT>AGC	p.S90S	SEC23IP_uc010qtc.1_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	90	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAAGCAGCAGTGATCCTTTTG	0.473													C	121658045	T	C	121658045	2	2	189	1	0	0	0	0	0	0	0	1	13993	1693	59	3		3	SEC23IP	10	121658045	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	71384	121658045	13876702	2724	100581											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122348907	122348907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacacagcttgccataaaCcctacgttagtctgcgagtc	7	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:122348907C>A	uc001lev.1	+	7	1061	c.709C>A	c.(709-711)CCC>ACC	p.P237T	PPAPDC1A_uc009xzl.1_Missense_Mutation_p.P174T|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.N86K|PPAPDC1A_uc001ley.1_Missense_Mutation_p.P116T	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	237					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTGCCATAAACCCTACGTTAG	0.552													A	122348907	C	A	122348907	3	1	189	1	0	0	0	0	1	0	0	0	12293	507	18	5	735	5	PPAPDC1A	10	122348907	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	690862	122348907	13185840	2725	100582											
TACC2	10579	broad.mit.edu	37	chr10	123989903	123989903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatgcggatagaagcccTgaagctggccaggcagattg	13	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:123989903T>C	uc001lfv.2	+	16	8435	c.8075T>C	c.(8074-8076)CTG>CCG	p.L2692P	TACC2_uc001lfw.2_Missense_Mutation_p.L838P|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron|TACC2_uc001lfz.2_Missense_Mutation_p.L770P|TACC2_uc001lga.2_Intron|TACC2_uc009xzy.2_Intron|TACC2_uc001lgb.2_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2692	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATAGAAGCCCTGAAGCTGGCC	0.567													C	123989903	T	C	123989903	3	2	189	1	0	0	0	0	1	0	0	0	15499	1580	55	3	8205	3	TACC2	10	123989903	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1640996	123989903	11544844	2726	100583											
TACC2	10579	broad.mit.edu	37	chr10	124013541	124013541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcaccaagatttgtgaCgaactgattgccaaaatggg	10	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:124013541C>T	uc001lfv.2	+	23	9177	c.8817C>T	c.(8815-8817)GAC>GAT	p.D2939D	TACC2_uc001lfw.2_Silent_p.D1085D|TACC2_uc009xzx.2_Silent_p.D2817D|TACC2_uc010qtv.1_Silent_p.D2866D|TACC2_uc001lfx.2_Silent_p.D566D|TACC2_uc001lfy.2_Silent_p.D562D|TACC2_uc001lfz.2_Silent_p.D1017D|TACC2_uc001lga.2_Silent_p.D987D|TACC2_uc009xzy.2_Silent_p.D999D|TACC2_uc001lgb.2_Silent_p.D897D	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2939	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGATTTGTGACGAACTGATTG	0.438													T	124013541	C	T	124013541	2	4	189	1	0	0	0	0	0	0	0	1	15499	535	19	1		1	TACC2	10	124013541	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23638	124013541	11521206	2727	100584											
BTBD16	118663	broad.mit.edu	37	chr10	124066813	124066813	+	Frame_Shift_Del	DEL	T	T	-													cttatgaaaccgtgatgacaTtttttaagaggtaatataac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:124066812_124066812AT>A	uc001lgc.1	+	9	1151	c.900_900AT>A	c.(898-900)acafs	p.T300fs	BTBD16_uc001lgd.1_Frame_Shift_Del_p.T299fs	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	300										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)				CCGTGATGACATTTTTTAAGA	0.358													-	124066813	T	-	124066813	7	5	189	1	0	1	0	1	0	0	0	0	1541	1493	52	0	935	0	BTBD16	10	124066813	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	53272	124066813	11467934	2728	100585											
PSTK	118672	broad.mit.edu	37	chr10	124742484	124742484	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctttgtttttggttttggAtgacaatttttattatcaga	7	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:124742484A>T	uc001lgy.1	+	2	892	c.452A>T	c.(451-453)GAT>GTT	p.D151V		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	151							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		TTGGTTTTGGATGACAATTTT	0.338													T	124742484	A	T	124742484	3	4	189	1	0	0	0	0	1	0	0	0	12720	333	12	5	458	5	PSTK	10	124742484	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	675671	124742484	10792263	2729	100586											
GPR26	2849	broad.mit.edu	37	chr10	125426428	125426428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagacgagcgcctgcgcTtcgccgtcttcactggcgcc	13	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:125426428T>C	uc001lhh.2	+	1	558	c.505T>C	c.(505-507)TTC>CTC	p.F169L		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	169	Helical; Name=5; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTGCGCTTCGCCGTCTT	0.677													C	125426428	T	C	125426428	3	2	189	1	0	0	0	0	1	0	0	0	6684	1609	56	3	507	3	GPR26	10	125426428	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	683944	125426428	10108319	2730	100587											
GPR26	2849	broad.mit.edu	37	chr10	125447563	125447563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccttactgcgacaccagTaccgcaaaagctgcaaggag	9	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:125447563T>C	uc001lhh.2	+	3	954	c.901T>C	c.(901-903)TAC>CAC	p.Y301H		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	301	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGACACCAGTACCGCAAAAG	0.597													C	125447563	T	C	125447563	3	2	189	1	0	0	0	0	1	0	0	0	6684	1638	57	3	911	3	GPR26	10	125447563	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	21135	125447563	10087184	2731	100588											
GPR26	2849	broad.mit.edu	37	chr10	125447602	125447602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattctgaacaggctcctgCacagacgctccatccactcc	7	16	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:125447602C>T	uc001lhh.2	+	3	993	c.940C>T	c.(940-942)CAC>TAC	p.H314Y		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	314	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CAGGCTCCTGCACAGACGCTC	0.572													T	125447602	C	T	125447602	3	4	189	1	0	0	0	0	1	0	0	0	6684	710	25	2	950	2	GPR26	10	125447602	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	39	125447602	10087145	2732	100589											
CPXM2	119587	broad.mit.edu	37	chr10	125526528	125526528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccactcagggattgcaatAtagtgattgggaactttcct	9	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:125526528A>G	uc001lhk.1	-	10	1765	c.1440T>C	c.(1438-1440)TAT>TAC	p.Y480Y	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	480					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		GGATTGCAATATAGTGATTGG	0.463													G	125526528	A	G	125526528	2	3	189	1	0	0	0	0	0	0	0	1	3838	456	16	3		3	CPXM2	10	125526528	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	78926	125526528	10008219	2733	100590											
CPXM2	119587	broad.mit.edu	37	chr10	125528175	125528175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaactgcaccagcagcagcAgcagctcccggcccagcacc	10	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:125528175A>G	uc001lhk.1	-	9	1491	c.1166T>C	c.(1165-1167)CTG>CCG	p.L389P	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	389	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		CAGCAGCAGCAGCAGCTCCCG	0.617													G	125528175	A	G	125528175	3	3	189	1	0	0	0	0	1	0	0	0	3838	188	7	3	1128	3	CPXM2	10	125528175	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1647	125528175	10006572	2734	100591											
CPXM2	119587	broad.mit.edu	37	chr10	125601960	125601960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggaggtcatttcttccCgcgcaccacgctccgtcata	9	15	3	0	rs112542031	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:125601960C>T	uc001lhk.1	-	4	883	c.558G>A	c.(556-558)GCG>GCA	p.A186A	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	186	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		CATTTCTTCCCGCGCACCACG	0.468													T	125601960	C	T	125601960	2	4	189	1	0	0	0	0	0	0	0	1	3838	639	23	1		1	CPXM2	10	125601960	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	73785	125601960	9932787	2735	100592											
ZRANB1	54764	broad.mit.edu	37	chr10	126660638	126660638	+	Frame_Shift_Del	DEL	T	T	-													cttcatcagagaaagggggaTtttgcttgctattttctgac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:126660637_126660637AT>A	uc010qug.2	+	3	1288	c.1184_1184AT>A	c.(1183-1185)gatfs	p.D395fs	ZRANB1_uc001lic.3_Frame_Shift_Del_p.D369fs	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	369	TRAF-binding.				Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	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)		AGAAAGGGGGATTTTGCTTGC	0.388													-	126660638	T	-	126660638	7	5	189	1	0	1	0	1	0	0	0	0	18219	1490	52	0	1117	0	ZRANB1	10	126660638	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	1058678	126660638	8874109	2736	100593											
C10orf137	26098	broad.mit.edu	37	chr10	127413917	127413917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggttgaaagagtttTatcaaagactcattgatcag	10	5	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:127413917T>C	uc001liq.1	+	5	834	c.541T>C	c.(541-543)TAT>CAT	p.Y181H	C10orf137_uc001lin.2_Missense_Mutation_p.Y181H|C10orf137_uc001lio.1_Missense_Mutation_p.Y181H|C10orf137_uc001lip.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAAGAGTTTTATCAAAGACT	0.353													C	127413917	T	C	127413917	3	2	189	1	0	0	0	0	1	0	0	0	1594	1754	61	3	559	3	C10orf137	10	127413917	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	753279	127413917	8120830	2737	100594											
C10orf90	118611	broad.mit.edu	37	chr10	128192694	128192694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccactccaaggacaagCgccggtccccaaatgcaccc	8	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:128192694C>T	uc001ljq.2	-	3	1196	c.1075G>A	c.(1075-1077)GCT>ACT	p.A359T	C10orf90_uc001ljp.2_Missense_Mutation_p.A312T|C10orf90_uc010qum.1_Missense_Mutation_p.A456T|C10orf90_uc009yao.2_Missense_Mutation_p.A456T|C10orf90_uc001ljs.1_Missense_Mutation_p.A312T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	359										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAAGGACAAGCGCCGGTCCCC	0.512											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128192694	C	T	128192694	3	4	189	1	0	0	0	0	1	0	0	0	1623	768	27	1	1052	1	C10orf90	10	128192694	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	778777	128192694	7342053	2738	100595											
DOCK1	1793	broad.mit.edu	37	chr10	128821470	128821470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccccctcaggtgatgTtcgaaatgatatctatgtaa	7	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:128821470T>C	uc001ljt.2	+	14	1335	c.1271T>C	c.(1270-1272)GTT>GCT	p.V424A	DOCK1_uc010qun.1_Missense_Mutation_p.V445A	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	424	DHR-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			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		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)		TCAGGTGATGTTCGAAATGAT	0.368													C	128821470	T	C	128821470	3	2	189	1	0	0	0	0	1	0	0	0	4684	1725	60	3	1325	3	DOCK1	10	128821470	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	628776	128821470	6713277	2739	100596											
FAM196A	642938	broad.mit.edu	37	chr10	128974139	128974139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttggttggaatggaaaAccaaggctgtggtcttgtgc	15	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:128974139A>G	uc001lju.1	-	1	562	c.521T>C	c.(520-522)GTT>GCT	p.V174A	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.V174A|FAM196A_uc001ljv.1_Missense_Mutation_p.V174A|FAM196A_uc009yap.1_Missense_Mutation_p.V174A	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	174										ovary(2)	2						GGAATGGAAAACCAAGGCTGT	0.572													G	128974139	A	G	128974139	3	3	189	1	0	0	0	0	1	0	0	0	5528	43	2	3	930	3	FAM196A	10	128974139	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	152669	128974139	6560608	2740	100597											
PTPRE	5791	broad.mit.edu	37	chr10	129871635	129871635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactatttcatcgccacccAggggccactggcacacacgg	11	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:129871635A>G	uc001lkb.2	+	17	1778	c.1499A>G	c.(1498-1500)CAG>CGG	p.Q500R	PTPRE_uc009yat.2_Missense_Mutation_p.Q511R|PTPRE_uc009yau.2_Missense_Mutation_p.Q500R|PTPRE_uc001lkd.2_Missense_Mutation_p.Q442R|PTPRE_uc010quq.1_Missense_Mutation_p.Q401R	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	500	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(1)	1		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)				ATCGCCACCCAGGGGCCACTG	0.552													G	129871635	A	G	129871635	3	3	189	1	0	0	0	0	1	0	0	0	12800	188	7	3	1596	3	PTPRE	10	129871635	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	897496	129871635	5663112	2741	100598											
MKI67	4288	broad.mit.edu	37	chr10	129906399	129906399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccactaattcctcggtgtgAccaggagtctggaagagctc	12	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:129906399A>G	uc001lke.2	-	13	3900	c.3705T>C	c.(3703-3705)GGT>GGC	p.G1235G	MKI67_uc001lkf.2_Silent_p.G875G|MKI67_uc009yav.1_Silent_p.G810G|MKI67_uc009yaw.1_Silent_p.G385G	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1235	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				CCTCGGTGTGACCAGGAGTCT	0.512													G	129906399	A	G	129906399	2	3	189	1	0	0	0	0	0	0	0	1	9598	262	10	3		3	MKI67	10	129906399	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	34764	129906399	5628348	2742	100599											
MKI67	4288	broad.mit.edu	37	chr10	129913250	129913250	+	Frame_Shift_Del	DEL	C	C	-													agaccaggtaacccagagcaCatctgtccagctgtagtgcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:129913249_129913249AC>A	uc001lke.3	-	6	1618	c.1423_1423GT>T	c.(1423-1425)tgcfs	p.C475fs	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	475					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)				AACCCAGAGCACATCTGTCCA	0.383													-	129913250	C	-	129913250	7	5	189	1	0	1	0	1	0	0	0	0	9598	478	17	0	8384	0	MKI67	10	129913250	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	6851	129913250	5621497	2743	100600											
EBF3	253738	broad.mit.edu	37	chr10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-													caattatgatgacggtggcaCcccccgtggtccagccttca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:131666124_131666124AC>A	uc021qav.1	-	8	866	c.765_765GT>T	c.(763-765)ggtfs	p.G255fs	EBF3_uc001lki.2_Frame_Shift_Del_p.G269fs	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	278					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)		TGACGGTGGCACCCCCCGTGG	0.577													-	131666125	C	-	131666125	7	5	189	1	0	1	0	1	0	0	0	0	4882	507	18	0	881	0	EBF3	10	131666125	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	1752875	131666125	3868622	2744	100601											
PWWP2B	170394	broad.mit.edu	37	chr10	134218153	134218153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctctttggcctaccccCgttggctccgctgccccagg	11	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:134218153C>T	uc001lll.3	+	2	178	c.149C>T	c.(148-150)CCG>CTG	p.P50L	PWWP2B_uc009ybe.2_Missense_Mutation_p.P50L	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	50											0		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)		GGCCTACCCCCGTTGGCTCCG	0.657													T	134218153	C	T	134218153	3	4	189	1	0	0	0	0	1	0	0	0	12846	652	23	1	155	1	PWWP2B	10	134218153	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2552028	134218153	1316594	2745	100602											
PWWP2B	170394	broad.mit.edu	37	chr10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-													gatgcagctggggtccagctCcccccctcctgcccgcgggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:134218254_134218254TC>T	uc001lll.4	+	1	279	c.250_250TC>T	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										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)		GGGGTCCAGCTCCCCCCCTCC	0.746													-	134218255	C	-	134218255	7	5	189	1	0	1	0	1	0	0	0	0	12846	855	30	0	257	0	PWWP2B	10	134218255	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	102	134218255	1316492	2746	100603											
GPR123	84435	broad.mit.edu	37	chr10	134886463	134886463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaacaaattaccagaggCcgccgactcgtttggggaaa	12	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:134886463C>T	uc001llw.2	+	3	497	c.497C>T	c.(496-498)GCC>GTC	p.A166V				Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	Error:Variant_position_missing_in_Q86SQ6_after_alignment						integral to membrane|plasma membrane	G-protein coupled receptor activity				0		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)		TTACCAGAGGCCGCCGACTCG	0.562													T	134886463	C	T	134886463	3	4	189	1	0	0	0	0	1	0	0	0	6637	754	26	2		2	GPR123	10	134886463	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	668208	134886463	648284	2747	100604											
TUBGCP2	10844	broad.mit.edu	37	chr10	135099060	135099060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcggcgtgcgccatcgCcttctcctgcttggtctcga	14	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:135099060C>T	uc001lmg.1	-	12	2152	c.1795G>A	c.(1795-1797)GCG>ACG	p.A599T	TUBGCP2_uc001lmf.1_Missense_Mutation_p.A192T|TUBGCP2_uc010qvc.1_Missense_Mutation_p.A627T|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Missense_Mutation_p.A469T|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	599					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		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)		TGCGCCATCGCCTTCTCCTGC	0.587													T	135099060	C	T	135099060	3	4	189	1	0	0	0	0	1	0	0	0	16763	739	26	2	941	2	TUBGCP2	10	135099060	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	212597	135099060	435687	2748	100605											
TUBGCP2	10844	broad.mit.edu	37	chr10	135111566	135111567	+	Frame_Shift_Ins	INS	-	-	T													ggggaggtgctggcctgaatINStttttttgttctgcttgtct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:135111565_135111566A>AT	uc010qvc.1	-	4	863_864	c.506_507T>AT	c.(505-507)aatfs	p.N169fs	TUBGCP2_uc001lmg.1_Frame_Shift_Ins_p.N169fs|TUBGCP2_uc010qvd.1_Frame_Shift_Ins_p.N39fs|TUBGCP2_uc009ybk.1_Frame_Shift_Ins_p.N169fs|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	169					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)		GCTGGCCTGAATTTTTTTTGTT	0.455													T	135111567	-	T	135111566	7	5	189	1	0	1	1	0	0	0	0	0	16763	1493	52	0	2258	0	TUBGCP2	10	135111566	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	12506	135111566	423181	2749	100606											
CYP2E1	1571	broad.mit.edu	37	chr10	135346227	135346227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccagctttctacactActtgcctggaagccacagaa	6	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr10:135346227A>G	uc001lnj.1	+	5	713	c.680A>G	c.(679-681)TAC>TGC	p.Y227C	CYP2E1_uc001lnk.1_Missense_Mutation_p.Y90C|CYP2E1_uc009ybl.1_Missense_Mutation_p.Y28C|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.Y28C	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	227					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			central_nervous_system(3)	3		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)	TTTCTACACTACTTGCCTGGA	0.388									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				G	135346227	A	G	135346227	3	3	189	1	0	0	0	0	1	0	0	0	4170	391	14	3	698	3	CYP2E1	10	135346227	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	234661	135346227	188520	2750	100607											
NLRP6	171389	broad.mit.edu	37	chr11	281524	281524	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accagaggtgaccgagggggCcaaagggctcgaggacaccg	17	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:281524C>G	uc010qvs.1	+	4	1790	c.1790C>G	c.(1789-1791)GCC>GGC	p.A597G	NLRP6_uc010qvt.1_Missense_Mutation_p.A597G	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	597						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		ACCGAGGGGGCCAAAGGGCTC	0.652													G	281524	C	G	281524	3	3	189	1	0	0	0	0	1	0	0	0	10481	739	26	5	1804	5	NLRP6	11	281524	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08		281524	134724992	2751	100608											
B4GALNT4	338707	broad.mit.edu	37	chr11	375700	375700	+	Frame_Shift_Del	DEL	G	G	-													cagtctccagccagccacgtGggggggcgtccgccgcagga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:375699_375699TG>T	uc001lpb.3	+	9	920	c.911_911TG>T	c.(910-912)gtgfs	p.V304fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	304						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)		GCCAGCCACGTGGGGGGGCGT	0.672													-	375700	G	-	375700	7	5	189	1	0	1	0	1	0	0	0	0	1269	1335	47	0	950	0	B4GALNT4	11	375700	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	94176	375700	134630816	2752	100609											
RNH1	6050	broad.mit.edu	37	chr11	498027	498027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcacagctcccgcacGcccgcatcctccagcctgtt	8	21	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:498027G>A	uc001lpk.1	-	7	2479	c.1071C>T	c.(1069-1071)GGC>GGT	p.G357G	RNH1_uc001lpl.1_Silent_p.G357G|RNH1_uc001lpm.1_Silent_p.G357G|RNH1_uc001lpn.1_Silent_p.G357G|RNH1_uc001lpo.1_Silent_p.G357G|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.G357G|RNH1_uc001lpt.1_Silent_p.G114G|RNH1_uc001lpq.1_Silent_p.G357G|RNH1_uc001lpr.1_Silent_p.G357G|RNH1_uc001lps.1_Silent_p.G357G	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	357	LRR 12.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		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)		GCTCCCGCACGCCCGCATCCT	0.607													A	498027	G	A	498027	2	1	189	1	0	0	0	0	0	0	0	1	13504	1074	38	1		1	RNH1	11	498027	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	122327	498027	134508489	2753	100610											
RASSF7	8045	broad.mit.edu	37	chr11	563560	563560	+	Missense_Mutation	SNP	G	G	A													gcctgtgtcctcccgcagtgGcccccatgacgcagaactcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:563560G>A	uc001lqc.2	+	6	1072	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D	C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_3'UTR|RASSF7_uc001lqb.2_3'UTR|RASSF7_uc001lqd.2_Nonsense_Mutation_p.W318*	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family	346					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			skin(1)	1		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)		TCCCGCAGTGGCCCCCATGAC	0.692													A	563560	G	A	563560	3	1	189	1	0	0	0	0	1	0	0	0	13091	1212	42	2	1118	2	RASSF7	11	563560	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	65533	563560	134442956	2754	100611	492	2									
RASSF7	8045	broad.mit.edu	37	chr11	563570	563570	+	Silent	SNP	C	C	T													tcccgcagtggcccccatgaCgcagaactcctggaggtagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:563570C>T	uc001lqc.2	+	6	1082	c.1047C>T	c.(1045-1047)GAC>GAT	p.D349D	C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_3'UTR|RASSF7_uc001lqb.2_3'UTR|RASSF7_uc001lqd.2_3'UTR	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family	349					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			skin(1)	1		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)		GCCCCCATGACGCAGAACTCC	0.682													T	563570	C	T	563570	2	4	189	1	0	0	0	0	0	0	0	1	13091	535	19	1		1	RASSF7	11	563570	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10	563570	134442946	2755	100612	492	2									
PHRF1	57661	broad.mit.edu	37	chr11	605153	605153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctctcgaatcgcgcggaCgctgggcctgcgcaggcctg	15	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:605153C>T	uc001lqe.2	+	11	1318	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	PHRF1_uc010qwc.1_Missense_Mutation_p.T396M|PHRF1_uc010qwd.1_Missense_Mutation_p.T395M|PHRF1_uc010qwe.1_Missense_Mutation_p.T392M|PHRF1_uc009ybz.1_Missense_Mutation_p.T187M|PHRF1_uc009yca.1_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	396	Arg-rich.						RNA polymerase binding|zinc ion binding				0						ATCGCGCGGACGCTGGGCCTG	0.572													T	605153	C	T	605153	3	4	189	1	0	0	0	0	1	0	0	0	11861	536	19	1	1225	1	PHRF1	11	605153	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	41583	605153	134401363	2756	100613											
DEAF1	10522	broad.mit.edu	37	chr11	679734	679734	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggccggactctctgatatGacagcagtggcctctaccgt	12	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:679734G>A	uc001lqq.1	-	8	1773	c.1080C>T	c.(1078-1080)GTC>GTT	p.V360V	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	360					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|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		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)		TCTCTGATATGACAGCAGTGG	0.632													A	679734	G	A	679734	2	1	189	1	0	0	0	0	0	0	0	1	4380	1277	45	4		4	DEAF1	11	679734	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	74581	679734	134326782	2757	100614											
CD151	977	broad.mit.edu	37	chr11	837482	837482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgtggcagcaacaActcacaggactggcgagaca	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:837482A>G	uc001lry.2	+	7	623	c.479A>G	c.(478-480)AAC>AGC	p.N160S	CD151_uc001lrx.2_RNA|CD151_uc001lrz.2_Missense_Mutation_p.N160S|CD151_uc001lsa.2_Missense_Mutation_p.N160S|CD151_uc001lsb.2_Missense_Mutation_p.N160S	NM_004357	NP_004348	P48509	CD151_HUMAN	CD151 antigen	160	Extracellular (Potential).				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding				0		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;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCAGCAACAACTCACAGGAC	0.627													G	837482	A	G	837482	3	3	189	1	0	0	0	0	1	0	0	0	2965	43	2	3	497	3	CD151	11	837482	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	157748	837482	134169034	2758	100615											
MUC6	4588	broad.mit.edu	37	chr11	1025234	1025234	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgcctgttccagatgAgcgtcaggttgtacctcccg	11	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1025234A>C	uc001lsw.2	-	23	2984	c.2933T>G	c.(2932-2934)CTC>CGC	p.L978R		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	978	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GTTCCAGATGAGCGTCAGGTT	0.667													C	1025234	A	C	1025234	3	2	189	1	0	0	0	0	1	0	0	0	9980	304	11	5	4430	5	MUC6	11	1025234	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	187752	1025234	133981282	2759	100616											
MUC2	4583	broad.mit.edu	37	chr11	1081139	1081139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaacctgccccacgtgAccggtgagttgtgccccagg	14	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1081139A>G	uc001lsx.1	+	11	1462	c.1435A>G	c.(1435-1437)ACC>GCC	p.T479A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	479	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	GCCCCACGTGACCGGTGAGTT	0.652													G	1081139	A	G	1081139	3	3	189	1	0	0	0	0	1	0	0	0	9975	275	10	3	1477	3	MUC2	11	1081139	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	55905	1081139	133925377	2760	100617											
MUC5B	727897	broad.mit.edu	37	chr11	1258211	1258211	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgccatcaatgactttgcCacgcgtagccggtccgtggt	11	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1258211C>A	uc009ycr.1	+	41	5319	c.5193C>A	c.(5191-5193)GCC>GCA	p.A1731A	MUC5B_uc009yct.1_Silent_p.A1038A|MUC5B_uc001ltb.2_Silent_p.A1041A|MUC5B_uc001lta.2_Silent_p.A706A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1038	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		ATGACTTTGCCACGCGTAGCC	0.667													A	1258211	C	A	1258211	2	1	189	1	0	0	0	0	0	0	0	1	9979	581	21	5		5	MUC5B	11	1258211	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	177072	1258211	133748305	2761	100618											
MUC5B	727897	broad.mit.edu	37	chr11	1269737	1269737	+	Frame_Shift_Del	DEL	C	C	-													aaccacgggcttcacagtcaCcccctcctccagcccaggga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1269736_1269736AC>A	uc001lta.3	+	30	11685	c.11626_11626AC>A	c.(11626-11628)accfs	p.T3876fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3876	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)		CTTCACAGTCACCCCCTCCTC	0.647													-	1269737	C	-	1269737	7	5	189	1	0	1	0	1	0	0	0	0	9979	507	18	0	11758	0	MUC5B	11	1269737	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	11526	1269737	133736779	2762	100619											
DUSP8	1850	broad.mit.edu	37	chr11	1579347	1579347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcagactcaccgatgAactcgatggacttgtccagc	9	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1579347A>G	uc001lts.2	-	5	820	c.692T>C	c.(691-693)TTC>TCC	p.F231S		NM_004420	NP_004411	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	231	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		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)		CTCACCGATGAACTCGATGGA	0.602													G	1579347	A	G	1579347	3	3	189	1	0	0	0	0	1	0	0	0	4831	246	9	3	1197	3	DUSP8	11	1579347	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	309610	1579347	133427169	2763	100620											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651339	1651339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcaaagggggctgtgGctcttgcgggggctccaaga	18	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1651339G>C	uc001lty.2	+	1	307	c.269G>C	c.(268-270)GGC>GCC	p.G90A		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	90	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		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)		GGGGGCTGTGGCTCTTGCGGG	0.602													C	1651339	G	C	1651339	3	2	189	1	0	0	0	0	1	0	0	0	8564	1203	42	5	271	5	KRTAP5-5	11	1651339	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	71992	1651339	133355177	2764	100621											
CTSD	1509	broad.mit.edu	37	chr11	1775320	1775320	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgcctgtgtccacaatGgcctcacagccctccttgca	9	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1775320G>T	uc001luc.1	-	7	1009	c.876C>A	c.(874-876)GCC>GCA	p.A292A	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	292					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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)	TGTCCACAATGGCCTCACAGC	0.687													T	1775320	G	T	1775320	2	4	189	1	0	0	0	0	0	0	0	1	4032	1335	47	5		5	CTSD	11	1775320	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	123981	1775320	133231196	2765	100622											
TNNT3	7140	broad.mit.edu	37	chr11	1955030	1955032	+	In_Frame_Del	DEL	AGG	AGG	-													ccactttgaagcccggaagaAggaggaggaggagctggtcg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:1955029_1955031AAGG>A	uc001luu.4	+	9	462_464	c.250_252AAGG>A	c.(250-252)aag>A	p.K84del	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_In_Frame_Del_p.K76del|TNNT3_uc001luo.4_In_Frame_Del_p.K76del|TNNT3_uc001lup.4_In_Frame_Del_p.K82del|TNNT3_uc001luq.4_In_Frame_Del_p.K76del|TNNT3_uc001lur.3_In_Frame_Del_p.K76del|TNNT3_uc010qxf.2_In_Frame_Del_p.K82del|TNNT3_uc010qxg.2_In_Frame_Del_p.K16del	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	95					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)		AGCCCGGAAGAAGGAGGAGGAGG	0.606													-	1955032	AGG	-	1955030	7	5	189	1	0	1	0	1	0	0	0	0	16329	72	3	0	326	0	TNNT3	11	1955030	In_Frame_Del	DEL	AGG	TCGA-CG-5721-01A-11D-1600-08	179710	1955030	133051486	2766	100623											
NAP1L4	4676	broad.mit.edu	37	chr11	2991167	2991168	+	Splice_Site	DEL	AA	AA	-													tttacttttcatgtctccctAaaaaaaagatgcaacatagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:2991166_2991167TAA>T	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					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)		CATGTCTCCCTAAAAAAAAGAT	0.416													-	2991168	AA	-	2991167	8	5	189	1	0	1	0	1	0	0	1	0	10159	377	13	0		0	NAP1L4	11	2991167	Splice_Site	DEL	AA	TCGA-CG-5721-01A-11D-1600-08	1036137	2991167	132015349	2767	100624											
OSBPL5	114879	broad.mit.edu	37	chr11	3141762	3141762	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcagcaccgtgcccacCcactggcccaccttgggcgt	11	18	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:3141762C>A	uc001lxk.2	-	6	653	c.495G>T	c.(493-495)TGG>TGT	p.W165C	OSBPL5_uc010qxq.1_Intron|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Missense_Mutation_p.W189C	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	165	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		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)		CCGTGCCCACCCACTGGCCCA	0.642													A	3141762	C	A	3141762	3	1	189	1	0	0	0	0	1	0	0	0	11280	624	22	5	2212	5	OSBPL5	11	3141762	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	150595	3141762	131864754	2768	100625											
OSBPL5	114879	broad.mit.edu	37	chr11	3141800	3141800	+	Frame_Shift_Del	DEL	C	C	-													cgtcttgtagatgagcagcaCccccggcttcagcacgcacc					rs142011119		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:3141799_3141799AC>A	uc001lxk.2	-	5	616	c.458_458GT>T	c.(457-459)gtgfs	p.V153fs	OSBPL5_uc010qxq.1_Frame_Shift_Del_p.V105fs|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.3_Frame_Shift_Del_p.V177fs	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	153	PH.				Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol 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)		GATGAGCAGCACCCCCGGCTT	0.672													-	3141800	C	-	3141800	7	5	189	1	0	1	0	1	0	0	0	0	11280	507	18	0	2250	0	OSBPL5	11	3141800	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	38	3141800	131864716	2769	100626											
ZNF195	7748	broad.mit.edu	37	chr11	3381419	3381419	+	Frame_Shift_Del	DEL	T	T	-													gttttgccacattctccacaTttttggaatttttttccagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:3381418_3381418AT>A	uc001lxt.3	-	5	1002	c.820_820AT>T	c.(820-822)tgtfs	p.C274fs	ZNF195_uc010qxr.2_Frame_Shift_Del_p.C255fs|ZNF195_uc009ydz.3_Frame_Shift_Del_p.C229fs|ZNF195_uc001lxu.3_Frame_Shift_Del_p.C206fs|ZNF195_uc001lxv.3_Frame_Shift_Del_p.C251fs|ZNF195_uc021qck.1_Frame_Shift_Del_p.C206fs|ZNF195_uc001lxs.3_Frame_Shift_Del_p.C202fs	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	274					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)		CATTCTCCACATTTTTGGAAT	0.368													-	3381419	T	-	3381419	7	5	189	1	0	1	0	1	0	0	0	0	17755	1490	52	0	1074	0	ZNF195	11	3381419	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	239619	3381419	131625097	2770	100627											
NUP98	4928	broad.mit.edu	37	chr11	3744545	3744545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatccacactgttgctgTtgctgtgtttatttccagca	7	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:3744545T>C	uc001lyh.2	-	16	2279	c.1988A>G	c.(1987-1989)AAC>AGC	p.N663S	NUP98_uc001lyi.2_Missense_Mutation_p.N663S|NUP98_uc001lyj.1_Missense_Mutation_p.N663S|NUP98_uc001lyk.1_Missense_Mutation_p.N680S	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	680					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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		ACTGTTGCTGTTGCTGTGTTT	0.423			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								C	3744545	T	C	3744545	3	2	189	1	0	0	0	0	1	0	0	0	10773	1725	60	3	3507	3	NUP98	11	3744545	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	363126	3744545	131261971	2771	100628											
RRM1	6240	broad.mit.edu	37	chr11	4150330	4150330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgatatgtggaatgtTactcctacagacctatggga	10	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4150330T>C	uc001lyw.3	+	15	2038	c.1719T>C	c.(1717-1719)GTT>GTC	p.V573V	RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Silent_p.V533V|RRM1_uc010qyc.1_Silent_p.V476V|RRM1_uc010qyd.1_Silent_p.V235V	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	573					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TGTGGAATGTTACTCCTACAG	0.259													C	4150330	T	C	4150330	2	2	189	1	0	0	0	0	0	0	0	1	13681	1741	61	3		3	RRM1	11	4150330	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	405785	4150330	130856186	2772	100629											
RRM1	6240	broad.mit.edu	37	chr11	4159522	4159522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaagataaagaaaaggTatcaaaagaggaagaagaga	11	2	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4159522T>C	uc001lyw.3	+	19	2607	c.2288T>C	c.(2287-2289)GTA>GCA	p.V763A	RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.V723A|RRM1_uc010qyc.1_Missense_Mutation_p.V666A|RRM1_uc010qyd.1_Missense_Mutation_p.V425A	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	763					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAAGAAAAGGTATCAAAAGAG	0.413													C	4159522	T	C	4159522	3	2	189	1	0	0	0	0	1	0	0	0	13681	1638	57	3	2362	3	RRM1	11	4159522	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9192	4159522	130846994	2773	100630											
OR52K2	119774	broad.mit.edu	37	chr11	4471390	4471390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccatgctgcccctcatgTccacatcctccttgccaatt	5	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4471390T>C	uc001lyz.1	+	1	821	c.821T>C	c.(820-822)GTC>GCC	p.V274A		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	274	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCCTCATGTCCACATCCTC	0.502													C	4471390	T	C	4471390	3	2	189	1	0	0	0	0	1	0	0	0	11124	1667	58	3	823	3	OR52K2	11	4471390	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	311868	4471390	130535126	2774	100631											
OR52K1	390036	broad.mit.edu	37	chr11	4510299	4510299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatccaggctgatgcagccCtccatgaacccatgtacctc	7	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4510299C>A	uc001lza.1	+	1	169	c.169C>A	c.(169-171)CTC>ATC	p.L57I		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		TGATGCAGCCCTCCATGAACC	0.498													A	4510299	C	A	4510299	3	1	189	1	0	0	0	0	1	0	0	0	11123	681	24	5	171	5	OR52K1	11	4510299	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	38909	4510299	130496217	2775	100632											
OR51E2	81285	broad.mit.edu	37	chr11	4702990	4702990	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttaagggtcacttgcctcCcacagcctgcaagtccttgt	9	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4702990C>A	uc001lzk.2	-	2	1196	c.952G>T	c.(952-954)GGA>TGA	p.G318*		NM_030774	NP_110401	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E,	318	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(3)|ovary(2)	5		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACTTGCCTCCCACAGCCTGC	0.428													A	4702990	C	A	4702990	4	1	189	1	0	0	0	0	0	1	0	0	11095	632	22	5	14	5	OR51E2	11	4702990	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	192691	4702990	130303526	2776	100633											
OR51F1	256892	broad.mit.edu	37	chr11	4790303	4790303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggggtaaaagcaggTatacattagccatcactgaa	11	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4790303T>C	uc010qyl.1	-	1	845	c.845A>G	c.(844-846)TAC>TGC	p.Y282C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	282						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		TAAAAGCAGGTATACATTAGC	0.478													C	4790303	T	C	4790303	3	2	189	1	0	0	0	0	1	0	0	0	11096	1638	57	3	96	3	OR51F1	11	4790303	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	87313	4790303	130216213	2777	100634											
OR51T1	401665	broad.mit.edu	37	chr11	4903765	4903765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacctgaatggcactgaCgtattgtttattcttttctc	6	10	3	2	rs138268565		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4903765C>T	uc010qyp.1	+	1	717	c.717C>T	c.(715-717)GAC>GAT	p.D239D		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		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)		ATGGCACTGACGTATTGTTTA	0.443													T	4903765	C	T	4903765	2	4	189	1	0	0	0	0	0	0	0	1	11106	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	113462	4903765	130102751	2778	100635											
OR51G1	79324	broad.mit.edu	37	chr11	4945549	4945549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggctctttggaggctGctattaagaagaattgtcat	11	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4945549G>A	uc010qyr.1	-	1	21	c.21C>T	c.(19-21)AGC>AGT	p.S7S		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGGAGGCTGCTATTAAGAA	0.443													A	4945549	G	A	4945549	2	1	189	1	0	0	0	0	0	0	0	1	11098	1310	46	2		2	OR51G1	11	4945549	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	41784	4945549	130060967	2779	100636											
OR51A4	401666	broad.mit.edu	37	chr11	4967443	4967443	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactctaatctgtttagtTtttacacaataaacaattgg	4	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4967443T>C	uc010qys.1	-	1	888	c.888A>G	c.(886-888)AAA>AAG	p.K296K		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		TCTGTTTAGTTTTTACACAAT	0.393													C	4967443	T	C	4967443	2	2	189	1	0	0	0	0	0	0	0	1	11087	1838	64	3		3	OR51A4	11	4967443	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	21894	4967443	130039073	2780	100637											
OR51A4	401666	broad.mit.edu	37	chr11	4967610	4967610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatgtgtgaaacacaagTattgagagccttaagctgct	10	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4967610T>C	uc010qys.1	-	1	721	c.721A>G	c.(721-723)ACT>GCT	p.T241A		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		GAAACACAAGTATTGAGAGCC	0.473													C	4967610	T	C	4967610	3	2	189	1	0	0	0	0	1	0	0	0	11087	1638	57	3	222	3	OR51A4	11	4967610	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	167	4967610	130038906	2781	100638											
OR51A4	401666	broad.mit.edu	37	chr11	4967644	4967644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgctcctttttggatgcAattcccagtacagtcttgag	9	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:4967644A>G	uc010qys.1	-	1	687	c.687T>C	c.(685-687)ATT>ATC	p.I229I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		TTTTGGATGCAATTCCCAGTA	0.443													G	4967644	A	G	4967644	2	3	189	1	0	0	0	0	0	0	0	1	11087	126	5	3		3	OR51A4	11	4967644	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	34	4967644	130038872	2782	100639											
HBD	3045	broad.mit.edu	37	chr11	5255572	5255572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttataaccttgataccaacCtgcccagggcctcaccacca	5	17	1	1	rs35654785		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:5255572C>T	uc001maf.1	-	1	287	c.92G>A	c.(91-93)AGA>AAA	p.R31K		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	31					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		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)		TGATACCAACCTGCCCAGGGC	0.517													T	5255572	C	T	5255572	3	4	189	1	0	0	0	0	1	0	0	0	6979	695	24	4	363	4	HBD	11	5255572	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	287928	5255572	129750944	2783	100640											
OR51B6	390058	broad.mit.edu	37	chr11	5373179	5373179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattggtgtgcgggtattgAcaagggctggtctgtccatt	15	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:5373179A>G	uc010qzb.1	+	1	442	c.442A>G	c.(442-444)ACA>GCA	p.T148A	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGGGTATTGACAAGGGCTGG	0.478													G	5373179	A	G	5373179	3	3	189	1	0	0	0	0	1	0	0	0	11092	275	10	3	444	3	OR51B6	11	5373179	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	117607	5373179	129633337	2784	100641											
OR51M1	390059	broad.mit.edu	37	chr11	5411261	5411261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttcaataatctgtatggActgatggtggtagttttcac	9	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:5411261A>G	uc010qzc.1	+	1	633	c.633A>G	c.(631-633)GGA>GGG	p.G211G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	211						integral to membrane	olfactory receptor activity				0		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)		ATCTGTATGGACTGATGGTGG	0.522													G	5411261	A	G	5411261	2	3	189	1	0	0	0	0	0	0	0	1	11103	262	10	3		3	OR51M1	11	5411261	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	38082	5411261	129595255	2785	100642											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5625792	5625792	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagtctctaaagaagcTgaagaacgaggagcaggaag	14	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:5625792T>G	uc001mbf.2	+	3	780	c.536T>G	c.(535-537)CTG>CGG	p.L179R	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.L125R|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Missense_Mutation_p.L151R|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_5'UTR|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.L179R|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	179						intracellular	zinc ion binding			ovary(1)	1		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)		CTAAAGAAGCTGAAGAACGAG	0.443													G	5625792	T	G	5625792	3	3	189	1	0	0	0	0	1	0	0	0	16531	1580	55	5	546	5	TRIM6-TRIM34	11	5625792	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	214531	5625792	129380724	2786	100643											
OR56B1	387748	broad.mit.edu	37	chr11	5758600	5758600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgattccagttctacttaAtgtgttgcacaacatcatcc	5	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:5758600A>C	uc001mbt.1	+	1	854	c.854A>C	c.(853-855)AAT>ACT	p.N285T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		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)		GTTCTACTTAATGTGTTGCAC	0.433													C	5758600	A	C	5758600	3	2	189	1	0	0	0	0	1	0	0	0	11137	101	4	5	856	5	OR56B1	11	5758600	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	132808	5758600	129247916	2787	100644											
OR52N5	390075	broad.mit.edu	37	chr11	5799138	5799138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgctgaaagccttctgccGagcatctgatgaagagaggc	14	9	2	4	rs117500523	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:5799138G>A	uc010qzn.1	-	1	727	c.727C>T	c.(727-729)CGG>TGG	p.R243W	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	243	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		GCCTTCTGCCGAGCATCTGAT	0.463													A	5799138	G	A	5799138	3	1	189	1	0	0	0	0	1	0	0	0	11130	1057	37	1	251	1	OR52N5	11	5799138	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	40538	5799138	129207378	2788	100645											
OR52N1	79473	broad.mit.edu	37	chr11	5810021	5810021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatgaagctggagttAggctggtgccatttagaaat	14	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:5810021A>G	uc010qzo.1	-	1	26	c.26T>C	c.(25-27)CTA>CCA	p.L9P	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		AGCTGGAGTTAGGCTGGTGCC	0.398													G	5810021	A	G	5810021	3	3	189	1	0	0	0	0	1	0	0	0	11127	420	15	3	939	3	OR52N1	11	5810021	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	10883	5810021	129196495	2789	100646											
C11orf42	160298	broad.mit.edu	37	chr11	6232207	6232207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggggccccagggaccccGacgggcactccatgtccctg	15	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6232207G>A	uc001mcj.2	+	3	985	c.937G>A	c.(937-939)GAC>AAC	p.D313N		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	313										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGACCCCGACGGGCACTC	0.632													A	6232207	G	A	6232207	3	1	189	1	0	0	0	0	1	0	0	0	1641	1058	37	1	947	1	C11orf42	11	6232207	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	422186	6232207	128774309	2790	100647											
FAM160A2	84067	broad.mit.edu	37	chr11	6244318	6244318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtcctacctgaattaCtgcattgcagaactccaggg	8	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6244318C>T	uc001mcl.3	-	4	1287	c.928G>A	c.(928-930)GTA>ATA	p.V310I	FAM160A2_uc001mck.3_Missense_Mutation_p.V310I|FAM160A2_uc001mcm.2_Missense_Mutation_p.V310I	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	310					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						ACCTGAATTACTGCATTGCAG	0.507													T	6244318	C	T	6244318	3	4	189	1	0	0	0	0	1	0	0	0	5469	565	20	4	2068	4	FAM160A2	11	6244318	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	12111	6244318	128762198	2791	100648											
CNGA4	1262	broad.mit.edu	37	chr11	6261527	6261527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttacccaaatgcctttcGcattgccaagctgatgcttt	7	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6261527G>A	uc001mco.2	+	4	610	c.503G>A	c.(502-504)CGC>CAC	p.R168H	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.R128H	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	168	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		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)		AATGCCTTTCGCATTGCCAAG	0.582													A	6261527	G	A	6261527	3	1	189	1	0	0	0	0	1	0	0	0	3599	1087	38	1	517	1	CNGA4	11	6261527	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	17209	6261527	128744989	2792	100649											
CCKBR	887	broad.mit.edu	37	chr11	6292348	6292348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggcctgccctggagctgAcggcgctgacggctcctggg	16	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6292348A>G	uc001mcp.2	+	5	1112	c.919A>G	c.(919-921)ACG>GCG	p.T307A	CCKBR_uc001mcq.2_Missense_Mutation_p.T235A|CCKBR_uc001mcr.2_Missense_Mutation_p.T307A|CCKBR_uc001mcs.2_Missense_Mutation_p.T376A|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	307	Cytoplasmic (Potential).				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			lung(5)|ovary(2)|breast(1)	8		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)	CCTGGAGCTGACGGCGCTGAC	0.667													G	6292348	A	G	6292348	3	3	189	1	0	0	0	0	1	0	0	0	2881	275	10	3	937	3	CCKBR	11	6292348	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	30821	6292348	128714168	2793	100650											
DNHD1	144132	broad.mit.edu	37	chr11	6540902	6540902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtgacaggatcaggacaGgccaaggctccatatacctt	10	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6540902G>T	uc001mdw.3	+	8	2029	c.1465G>T	c.(1465-1467)GGC>TGC	p.G489C	DNHD1_uc001mdp.2_Missense_Mutation_p.G489C|DNHD1_uc001mdq.2_Missense_Mutation_p.G178C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	489					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		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)		GATCAGGACAGGCCAAGGCTC	0.537													T	6540902	G	T	6540902	3	4	189	1	0	0	0	0	1	0	0	0	4668	1000	35	5	1487	5	DNHD1	11	6540902	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	248554	6540902	128465614	2794	100651											
DNHD1	144132	broad.mit.edu	37	chr11	6592035	6592035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgagtctcgaagaggCgcccagcttgcggaaaggcg	15	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6592035C>T	uc001mdw.3	+	42	13857	c.13293C>T	c.(13291-13293)GGC>GGT	p.G4431G	DNHD1_uc001mea.3_Silent_p.G700G|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Silent_p.G699G|DNHD1_uc010rao.1_Silent_p.G689G|DNHD1_uc009yfg.2_Silent_p.G56G	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4431	Potential.				microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		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)		CTCGAAGAGGCGCCCAGCTTG	0.637													T	6592035	C	T	6592035	2	4	189	1	0	0	0	0	0	0	0	1	4668	755	27	1		1	DNHD1	11	6592035	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	51133	6592035	128414481	2795	100652											
DCHS1	8642	broad.mit.edu	37	chr11	6648359	6648360	+	Frame_Shift_Ins	INS	-	-	G													ctgaagctggggcctgggcgINSgggcagacgtaggcgcagag					rs138329507		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6648358_6648359C>CG	uc001mem.1	-	13	6312_6313	c.5911_5912G>CG	c.(5911-5913)cgcfs	p.R1971fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1971	Cadherin 19.				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)		GGGGCCTGGGCGGGGCAGACGT	0.614													G	6648360	-	G	6648359	7	5	189	1	0	1	1	0	0	0	0	0	4287	1116	39	0	4017	0	DCHS1	11	6648359	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	56324	6648359	128358157	2796	100653											
DCHS1	8642	broad.mit.edu	37	chr11	6662222	6662222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagttccccagtaactAccagctcaggtactggagtc	10	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6662222A>G	uc001mem.1	-	2	1033	c.623T>C	c.(622-624)GTA>GCA	p.V208A		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	208	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAGTAACTACCAGCTCAGG	0.622													G	6662222	A	G	6662222	3	3	189	1	0	0	0	0	1	0	0	0	4287	391	14	3	9353	3	DCHS1	11	6662222	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	13863	6662222	128344294	2797	100654											
OR2AG2	338755	broad.mit.edu	37	chr11	6789715	6789715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatagtgtacatggtatgTcctatagcaatcagggatgc	11	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6789715T>C	uc001meq.1	-	1	474	c.474A>G	c.(472-474)GGA>GGG	p.G158G		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATGGTATGTCCTATAGCAA	0.507													C	6789715	T	C	6789715	2	2	189	1	0	0	0	0	0	0	0	1	10985	1654	58	3		3	OR2AG2	11	6789715	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	127493	6789715	128216801	2798	100655											
OR2D3	120775	broad.mit.edu	37	chr11	6942479	6942479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttttcttagaaatctcTcctttgcagatctctgtttc	4	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6942479T>C	uc010rav.1	+	1	247	c.247T>C	c.(247-249)TCC>CCC	p.S83P		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	83	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGAAATCTCTCCTTTGCAGA	0.408													C	6942479	T	C	6942479	3	2	189	1	0	0	0	0	1	0	0	0	10995	1551	54	3	249	3	OR2D3	11	6942479	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	152764	6942479	128064037	2799	100656											
OR2D3	120775	broad.mit.edu	37	chr11	6942864	6942864	+	Frame_Shift_Del	DEL	C	C	-													ttccatagacacttacagcaCagaaatggccatcttttcaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:6942863_6942863AC>A	uc010rav.2	+	0	631	c.631_631AC>A	c.(631-633)acafs	p.T211fs		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S210R(1)		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)		CACTTACAGCACAGAAATGGC	0.448													-	6942864	C	-	6942864	7	5	189	1	0	1	0	1	0	0	0	0	10995	478	17	0	634	0	OR2D3	11	6942864	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	385	6942864	128063652	2800	100657											
NLRP14	338323	broad.mit.edu	37	chr11	7059912	7059912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaattaaatacattcaagtTattcctaaaggagaccatgg	8	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:7059912T>C	uc001mfb.1	+	2	418	c.95T>C	c.(94-96)TTA>TCA	p.L32S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	32	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACATTCAAGTTATTCCTAAAG	0.428													C	7059912	T	C	7059912	3	2	189	1	0	0	0	0	1	0	0	0	10476	1764	61	3	97	3	NLRP14	11	7059912	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	117048	7059912	127946604	2801	100658											
TUB	7275	broad.mit.edu	37	chr11	8117104	8117104	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaaggcccagtgcagAttctgactgtgggccagtca	13	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:8117104A>T	uc001mga.2	+	5	606	c.457A>T	c.(457-459)ATT>TTT	p.I153F	TUB_uc010rbk.1_Missense_Mutation_p.I159F|TUB_uc001mfy.2_Missense_Mutation_p.I208F	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	153					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		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)		CCCAGTGCAGATTCTGACTGT	0.667													T	8117104	A	T	8117104	3	4	189	1	0	0	0	0	1	0	0	0	16739	333	12	5	686	5	TUB	11	8117104	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1057192	8117104	126889412	2802	100659											
RIC3	79608	broad.mit.edu	37	chr11	8132264	8132264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactctaaaccctgggggTtacgcttcctcagcatgctg	9	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:8132264T>C	uc001mgd.2	-	6	1145	c.1091A>G	c.(1090-1092)AAC>AGC	p.N364S	RIC3_uc001mgb.2_Missense_Mutation_p.N202S|RIC3_uc001mgc.2_Missense_Mutation_p.N363S|RIC3_uc001mge.2_Missense_Mutation_p.N182S|RIC3_uc010rbl.1_Missense_Mutation_p.N314S|RIC3_uc010rbm.1_Missense_Mutation_p.N392S|RIC3_uc009yfm.2_Missense_Mutation_p.N283S|RIC3_uc009yfn.2_Missense_Mutation_p.N167S	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	364	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ACCCTGGGGGTTACGCTTCCT	0.498													C	8132264	T	C	8132264	3	2	189	1	0	0	0	0	1	0	0	0	13354	1725	60	3	22	3	RIC3	11	8132264	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	15160	8132264	126874252	2803	100660											
SBF2	81846	broad.mit.edu	37	chr11	9803113	9803113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctggggccagcagggaTgaccatttctacttcagcca	11	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:9803113T>C	uc001mib.2	-	39	5530	c.5392A>G	c.(5392-5394)ATC>GTC	p.I1798V	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.I442V|SBF2_uc001mic.2_Missense_Mutation_p.I88V|uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1798	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCAGCAGGGATGACCATTTCT	0.483													C	9803113	T	C	9803113	3	2	189	1	0	0	0	0	1	0	0	0	13859	1464	51	3	165	3	SBF2	11	9803113	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1670849	9803113	125203403	2804	100661											
SBF2	81846	broad.mit.edu	37	chr11	9853940	9853940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactactgtcctgtacagcTtgaggtacgactaaaaggcc	9	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:9853940T>C	uc001mib.2	-	27	3621	c.3483A>G	c.(3481-3483)CAA>CAG	p.Q1161Q		NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1161	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCTGTACAGCTTGAGGTACGA	0.333													C	9853940	T	C	9853940	2	2	189	1	0	0	0	0	0	0	0	1	13859	1606	56	3		3	SBF2	11	9853940	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	50827	9853940	125152576	2805	100662											
USP47	55031	broad.mit.edu	37	chr11	11927031	11927031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgagggctggcgaatcgAcacatatcttgatattccat	9	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:11927031A>G	uc001mjq.1	+	9	1728	c.965A>G	c.(964-966)GAC>GGC	p.D322G	USP47_uc001mjr.2_Missense_Mutation_p.D234G|USP47_uc001mjs.2_Missense_Mutation_p.D302G	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	322					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			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TGGCGAATCGACACATATCTT	0.423													G	11927031	A	G	11927031	3	3	189	1	0	0	0	0	1	0	0	0	17075	275	10	3	727	3	USP47	11	11927031	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2073091	11927031	123079485	2806	100663											
PARVA	55742	broad.mit.edu	37	chr11	12530142	12530142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcagaaacgagaaggAatcctccagtctcggcaaat	8	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:12530142A>G	uc001mki.2	+	7	718	c.669A>G	c.(667-669)GGA>GGG	p.G223G	PARVA_uc010rck.1_Silent_p.G170G	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	parvin, alpha	223					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)	3				Epithelial(150;0.00624)		AACGAGAAGGAATCCTCCAGT	0.428													G	12530142	A	G	12530142	2	3	189	1	0	0	0	0	0	0	0	1	11468	233	9	3		3	PARVA	11	12530142	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	603111	12530142	122476374	2807	100664											
RRAS2	22800	broad.mit.edu	37	chr11	14316397	14316397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaactcttcttgtcctgCtgtatccaaaactaaagaaa	4	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:14316397C>T	uc001mlf.3	-	3	521	c.208G>A	c.(208-210)GCA>ACA	p.A70T	RRAS2_uc009ygq.2_5'UTR|RRAS2_uc010rco.1_Missense_Mutation_p.A76T	NM_012250	NP_036382	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	70	GTP (By similarity).					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1				Epithelial(150;0.203)		TCTTGTCCTGCTGTATCCAAA	0.403													T	14316397	C	T	14316397	3	4	189	1	0	0	0	0	1	0	0	0	13677	797	28	2	422	2	RRAS2	11	14316397	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1786255	14316397	120690119	2808	100665											
COPB1	1315	broad.mit.edu	37	chr11	14486521	14486521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgttagctttaatatttgcGaagtcatgaggagcaagagt	11	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:14486521G>A	uc001mli.2	-	18	2653	c.2346C>T	c.(2344-2346)TTC>TTT	p.F782F	COPB1_uc001mlg.2_Silent_p.F782F|COPB1_uc001mlh.2_Silent_p.F782F	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	782					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			ovary(1)|central_nervous_system(1)	2						TAATATTTGCGAAGTCATGAG	0.328													A	14486521	G	A	14486521	2	1	189	1	0	0	0	0	0	0	0	1	3728	1049	37	1		1	COPB1	11	14486521	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	170124	14486521	120519995	2809	100666											
COPB1	1315	broad.mit.edu	37	chr11	14515965	14515965	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcaaagcttcagtctTtgactttacatctccttttt	3	10	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:14515965T>A	uc001mli.2	-	3	419	c.112A>T	c.(112-114)AAG>TAG	p.K38*	COPB1_uc001mlg.2_Nonsense_Mutation_p.K38*|COPB1_uc001mlh.2_Nonsense_Mutation_p.K38*|PSMA1_uc010rcp.1_RNA	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	38					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			ovary(1)|central_nervous_system(1)	2						GCTTCAGTCTTTGACTTTACA	0.289													A	14515965	T	A	14515965	4	1	189	1	0	0	0	0	0	1	0	0	3728	1850	64	5	2829	5	COPB1	11	14515965	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	29444	14515965	120490551	2810	100667											
PDE3B	5140	broad.mit.edu	37	chr11	14839924	14839924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttagaaattctgataGcaatctgtgtaacaggtaag	9	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:14839924G>A	uc001mln.2	+	6	2071	c.1718G>A	c.(1717-1719)AGC>AAC	p.S573N	PDE3B_uc010rcr.1_Missense_Mutation_p.S522N	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	573					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						AATTCTGATAGCAATCTGTGT	0.289													A	14839924	G	A	14839924	3	1	189	1	0	0	0	0	1	0	0	0	11638	971	34	2	1740	2	PDE3B	11	14839924	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	323959	14839924	120166592	2811	100668											
CYP2R1	120227	broad.mit.edu	37	chr11	14913534	14913534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggggctgtacctctccgTacacctggctctgctttctc	10	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:14913534T>C	uc001mlr.2	-	1	218	c.218A>G	c.(217-219)TAC>TGC	p.Y73C	CYP2R1_uc001mlo.2_5'Flank|CYP2R1_uc001mlp.2_5'Flank|CYP2R1_uc001mlq.2_5'Flank	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R,	73					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			ovary(1)|central_nervous_system(1)	2					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TACCTCTCCGTACACCTGGCT	0.687													C	14913534	T	C	14913534	3	2	189	1	0	0	0	0	1	0	0	0	4173	1638	57	3	1307	3	CYP2R1	11	14913534	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	73610	14913534	120092982	2812	100669											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156673	17156673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacccctagttgaactccTgctagtgtcttctcctccaa	5	15	2	1	rs143022303		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:17156673T>C	uc001mmq.3	-	9	1948	c.1882A>G	c.(1882-1884)AGG>GGG	p.R628G	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.R248G|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.R628G	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	628					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			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GTTGAACTCCTGCTAGTGTCT	0.338													C	17156673	T	C	17156673	3	2	189	1	0	0	0	0	1	0	0	0	11909	1579	55	3	3274	3	PIK3C2A	11	17156673	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2243139	17156673	117849843	2813	100670											
KCNJ11	3767	broad.mit.edu	37	chr11	17409176	17409176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttgatcatgagccccaCgatgttctgcacgatgagga	13	10	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:17409176C>T	uc001mna.2	-	1	1031	c.463G>A	c.(463-465)GTG>ATG	p.V155M	KCNJ11_uc001mnb.3_Missense_Mutation_p.V68M	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	155						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		ATGAGCCCCACGATGTTCTGC	0.562											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	17409176	C	T	17409176	3	4	189	1	0	0	0	0	1	0	0	0	8045	536	19	1	713	1	KCNJ11	11	17409176	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	252503	17409176	117597340	2814	100671											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-													ggccactgacagaccgccccGgggggcccaagccactcact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:18636366_18636366CG>C	uc001moy.3	-	2	1671	c.1455_1455CG>G	c.(1453-1455)ccgfs	p.P485fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.P485fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	485	Ser-rich.							p.P485P(2)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CAGACCGCCCCGGGGGGCCCA	0.602													-	18636367	G	-	18636367	7	5	189	1	0	1	0	1	0	0	0	0	15125	1116	39	0	619	0	SPTY2D1	11	18636367	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1227191	18636367	116370149	2815	100672											
NAV2	89797	broad.mit.edu	37	chr11	20122663	20122663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagtgcttcgagagggacGggagttgacagacggggtta	17	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:20122663G>A	uc001mpr.3	+	32	6732	c.6371G>A	c.(6370-6372)CGG>CAG	p.R2124Q	NAV2_uc001mpp.2_Missense_Mutation_p.R2057Q|NAV2_uc009yhx.2_Missense_Mutation_p.R1185Q|NAV2_uc009yhz.2_Missense_Mutation_p.R766Q|NAV2_uc001mpu.2_Missense_Mutation_p.R559Q	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2180						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CGAGAGGGACGGGAGTTGACA	0.532													A	20122663	G	A	20122663	3	1	189	1	0	0	0	0	1	0	0	0	10184	1116	39	1	6606	1	NAV2	11	20122663	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1486296	20122663	114883853	2816	100673											
SLC6A5	9152	broad.mit.edu	37	chr11	20629055	20629055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatgctgatcatctctgTcctaatagccatatactaca	6	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:20629055T>C	uc001mqd.2	+	5	1115	c.842T>C	c.(841-843)GTC>GCC	p.V281A	SLC6A5_uc009yic.2_Missense_Mutation_p.V46A	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	281	Helical; Name=3; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	ATCATCTCTGTCCTAATAGCC	0.443													C	20629055	T	C	20629055	3	2	189	1	0	0	0	0	1	0	0	0	14687	1667	58	3	860	3	SLC6A5	11	20629055	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	506392	20629055	114377461	2817	100674											
MUC15	143662	broad.mit.edu	37	chr11	26587159	26587159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagaaatctgttattcCgtggctgttgttgggtagat	13	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:26587159C>T	uc001mqx.2	-	2	513	c.247G>A	c.(247-249)GGA>AGA	p.G83R	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.G110R|MUC15_uc001mqy.2_Missense_Mutation_p.G110R	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	83	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCTGTTATTCCGTGGCTGTTG	0.428													T	26587159	C	T	26587159	3	4	189	1	0	0	0	0	1	0	0	0	9972	661	23	1	769	1	MUC15	11	26587159	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5958104	26587159	108419357	2818	100675											
FIBIN	387758	broad.mit.edu	37	chr11	27016599	27016599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtccctgctgaaggagAcactggacatctctgtgggg	14	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:27016599A>G	uc001mrd.2	+	1	972	c.526A>G	c.(526-528)ACA>GCA	p.T176A		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	176						extracellular region|Golgi apparatus					0						GCTGAAGGAGACACTGGACAT	0.567													G	27016599	A	G	27016599	3	3	189	1	0	0	0	0	1	0	0	0	5885	275	10	3	528	3	FIBIN	11	27016599	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	429440	27016599	107989917	2819	100676											
BBOX1	8424	broad.mit.edu	37	chr11	27141369	27141369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattactgtgatttttctgtAcaatcaaaacataaaattat	4	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:27141369A>G	uc001mre.1	+	7	1181	c.813A>G	c.(811-813)GTA>GTG	p.V271V	BBOX1_uc009yih.1_Silent_p.V271V|BBOX1_uc001mrg.1_Silent_p.V271V	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	271					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	ATTTTTCTGTACAATCAAAAC	0.303													G	27141369	A	G	27141369	2	3	189	1	0	0	0	0	0	0	0	1	1334	378	14	3		3	BBOX1	11	27141369	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	124770	27141369	107865147	2820	100677											
CCDC34	91057	broad.mit.edu	37	chr11	27384534	27384534	+	Frame_Shift_Del	DEL	G	G	-													ctggaagctctggtggccaaGgggagacaacagcgacctgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:27384533_27384533AG>A	uc001mrh.1	-	0	263	c.209_209CT>T	c.(208-210)cttfs	p.L70fs	CCDC34_uc001mri.1_Frame_Shift_Del_p.L70fs	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	Homo sapiens coiled-coil domain containing 34 (CCDC34), transcript variant 1, mRNA.	70										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CTGGTGGCCAAGGGGAGACAA	0.627													-	27384534	G	-	27384534	7	5	189	1	0	1	0	1	0	0	0	0	2807	1000	35	0	1021	0	CCDC34	11	27384534	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	243165	27384534	107621982	2821	100678											
KCNA4	3739	broad.mit.edu	37	chr11	30032677	30032677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggtcaccacagcccAccaaaatgcatctgggatgc	9	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:30032677A>G	uc001msk.2	-	2	2701	c.1549T>C	c.(1549-1551)TGG>CGG	p.W517R		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	517						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ACCACAGCCCACCAAAATGCA	0.517													G	30032677	A	G	30032677	3	3	189	1	0	0	0	0	1	0	0	0	8005	159	6	3	416	3	KCNA4	11	30032677	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2648143	30032677	104973839	2822	100679											
DCDC1	341019	broad.mit.edu	37	chr11	31312290	31312290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaggtcctctcagtaagTttcttcattctaatagaaag	7	8	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:31312290T>C	uc001msv.2	-	7	1066	c.864A>G	c.(862-864)AAA>AAG	p.K288K	DCDC1_uc001msu.1_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	288					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TCTCAGTAAGTTTCTTCATTC	0.383													C	31312290	T	C	31312290	2	2	189	1	0	0	0	0	0	0	0	1	4284	1722	60	3		3	DCDC1	11	31312290	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1279613	31312290	103694226	2823	100680											
PAX6	5080	broad.mit.edu	37	chr11	31824298	31824298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccccgctgtgagctAgctctacaatcttctgccgg	12	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:31824298A>G	uc001mtd.3	-	4	985	c.95T>C	c.(94-96)CTA>CCA	p.L32P	PAX6_uc001mte.3_Missense_Mutation_p.L32P|PAX6_uc001mtg.3_Missense_Mutation_p.L32P|PAX6_uc001mtf.3_Missense_Mutation_p.L32P|PAX6_uc001mth.3_Missense_Mutation_p.L32P|PAX6_uc009yjr.2_Missense_Mutation_p.L32P	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	32	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					GCTGTGAGCTAGCTCTACAAT	0.652									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				G	31824298	A	G	31824298	3	3	189	1	0	0	0	0	1	0	0	0	11483	420	15	3	1255	3	PAX6	11	31824298	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	512008	31824298	103182218	2824	100681											
RCN1	5954	broad.mit.edu	37	chr11	32118854	32118854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaatttcctgggaagaatAcaaacaagccacctatggtt	7	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:32118854A>G	uc010reb.1	+	2	685	c.419A>G	c.(418-420)TAC>TGC	p.Y140C	RCN1_uc010rea.1_Missense_Mutation_p.Y89C|RCN1_uc001mtk.2_Translation_Start_Site	NM_002901	NP_002892	Q15293	RCN1_HUMAN	reticulocalbin 1 precursor	140	EF-hand 2.					endoplasmic reticulum lumen	calcium ion binding			large_intestine(1)	1	Lung SC(675;0.225)					TGGGAAGAATACAAACAAGCC	0.443													G	32118854	A	G	32118854	3	3	189	1	0	0	0	0	1	0	0	0	13179	391	14	3	425	3	RCN1	11	32118854	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	294556	32118854	102887662	2825	100682											
CCDC73	493860	broad.mit.edu	37	chr11	32635338	32635338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgattctgttttctctgtAttatttaacaatgtatgctg	6	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:32635338A>G	uc001mtv.2	-	16	2570	c.2526T>C	c.(2524-2526)AAT>AAC	p.N842N		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	842										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TTTTCTCTGTATTATTTAACA	0.348													G	32635338	A	G	32635338	2	3	189	1	0	0	0	0	0	0	0	1	2846	446	16	3		3	CCDC73	11	32635338	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	516484	32635338	102371178	2826	100683											
FBXO3	26273	broad.mit.edu	37	chr11	33780074	33780074	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtgaattcggtatgaAcatcgataatcgtcaggaag	10	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:33780074A>G	uc001muz.2	-	4	460	c.432T>C	c.(430-432)TGT>TGC	p.C144C	FBXO3_uc001muy.2_Silent_p.C31C|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Silent_p.C144C|FBXO3_uc001mvb.1_Silent_p.C139C|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	144					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TTCGGTATGAACATCGATAAT	0.393													G	33780074	A	G	33780074	2	3	189	1	0	0	0	0	0	0	0	1	5739	41	2	3		3	FBXO3	11	33780074	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1144736	33780074	101226442	2827	100684											
ABTB2	25841	broad.mit.edu	37	chr11	34180846	34180846	+	Frame_Shift_Del	DEL	A	A	-													caccaagacccacacacctgAaaaatgtggtacttcatgtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:34180845_34180845GA>G	uc001mvl.2	-	13	3120	c.2695_2695TC>C	c.(2695-2697)cagfs	p.Q899fs		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	713							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)				CCACACACCTGAAAAATGTGG	0.522													-	34180846	A	-	34180846	7	5	189	1	0	1	0	1	0	0	0	0	103	243	9	0	399	0	ABTB2	11	34180846	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	400772	34180846	100825670	2828	100685											
EHF	26298	broad.mit.edu	37	chr11	34680429	34680429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatggacgaagactggTatataaatttgggaagaatg	14	2	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:34680429T>C	uc001mvr.1	+	9	965	c.854T>C	c.(853-855)GTA>GCA	p.V285A	EHF_uc009yke.1_Missense_Mutation_p.V262A|EHF_uc009ykf.1_Missense_Mutation_p.V288A	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	285	ETS.				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				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CGAAGACTGGTATATAAATTT	0.398													C	34680429	T	C	34680429	3	2	189	1	0	0	0	0	1	0	0	0	4981	1638	57	3	884	3	EHF	11	34680429	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	499583	34680429	100326087	2829	100686											
PDHX	8050	broad.mit.edu	37	chr11	34991757	34991757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattaactgaatctaaaagTactgtacctcatgcatatgc	6	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:34991757T>C	uc001mvt.2	+	7	1414	c.888T>C	c.(886-888)AGT>AGC	p.S296S	PDHX_uc010rep.1_Silent_p.S281S|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	296					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AATCTAAAAGTACTGTACCTC	0.393													C	34991757	T	C	34991757	2	2	189	1	0	0	0	0	0	0	0	1	11667	1635	57	3		3	PDHX	11	34991757	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	311328	34991757	100014759	2830	100687											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513671	+	Frame_Shift_Ins	INS	-	-	C													atagaagtcatccaaggtacINSccccccatgagccatttcgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:35513669_35513670A>AC	uc001mwf.3	-	2	345_346	c.302_303T>GT	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Ins_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					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						CATCCAAGGTACCCCCCCATGA	0.52													C	35513671	-	C	35513670	7	5	189	1	0	1	1	0	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	521913	35513670	99492846	2831	100688											
FJX1	24147	broad.mit.edu	37	chr11	35641182	35641182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgcggtccgggcggggCgctggtctttctggacaatg	17	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:35641182C>T	uc001mwh.2	+	1	1448	c.998C>T	c.(997-999)GCG>GTG	p.A333V		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	333						extracellular space					0	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)				CCGGGCGGGGCGCTGGTCTTT	0.642													T	35641182	C	T	35641182	3	4	189	1	0	0	0	0	1	0	0	0	5901	768	27	1	1000	1	FJX1	11	35641182	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	127512	35641182	99365334	2832	100689											
LRRC4C	57689	broad.mit.edu	37	chr11	40136377	40136377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtgagagaggtggtcAcattggtggtctcccagtcg	17	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:40136377A>G	uc001mxa.1	-	2	3430	c.1466T>C	c.(1465-1467)GTG>GCG	p.V489A	LRRC4C_uc001mxc.1_Missense_Mutation_p.V485A|LRRC4C_uc001mxd.1_Missense_Mutation_p.V485A|LRRC4C_uc001mxb.1_Missense_Mutation_p.V485A	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	489					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGAGGTGGTCACATTGGTGGT	0.522													G	40136377	A	G	40136377	3	3	189	1	0	0	0	0	1	0	0	0	9008	159	6	3	460	3	LRRC4C	11	40136377	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4495195	40136377	94870139	2833	100690											
TTC17	55761	broad.mit.edu	37	chr11	43427103	43427103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctaaaagagcagattgtAcagaaagctaccctagagtc	10	9	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:43427103A>G	uc001mxi.2	+	12	1533	c.1519A>G	c.(1519-1521)ACA>GCA	p.T507A	TTC17_uc001mxh.2_Missense_Mutation_p.T507A|TTC17_uc010rfj.1_Missense_Mutation_p.T450A|TTC17_uc001mxj.2_Missense_Mutation_p.T277A	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	507							binding			ovary(5)	5						AGCAGATTGTACAGAAAGCTA	0.383													G	43427103	A	G	43427103	3	3	189	1	0	0	0	0	1	0	0	0	16681	391	14	3	1565	3	TTC17	11	43427103	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3290726	43427103	91579413	2834	100691											
ACCSL	390110	broad.mit.edu	37	chr11	44072889	44072889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtctgtttacagcctgCgggaagaagtggcccggttc	15	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:44072889C>T	uc001mxw.1	+	4	696	c.640C>T	c.(640-642)CGG>TGG	p.R214W	ACCSL_uc009ykr.2_Missense_Mutation_p.R33W	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	214							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTACAGCCTGCGGGAAGAAGT	0.493													T	44072889	C	T	44072889	3	4	189	1	0	0	0	0	1	0	0	0	134	759	27	1	654	1	ACCSL	11	44072889	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	645786	44072889	90933627	2835	100692											
CHST1	8534	broad.mit.edu	37	chr11	45671419	45671419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcggccgtggccgccgagTttcgcacggtgccgtatttg	14	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:45671419T>C	uc001mys.1	-	4	1726	c.1055A>G	c.(1054-1056)AAC>AGC	p.N352S		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	352	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGCCGCCGAGTTTCGCACGGT	0.672													C	45671419	T	C	45671419	3	2	189	1	0	0	0	0	1	0	0	0	3397	1725	60	3	184	3	CHST1	11	45671419	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1598530	45671419	89335097	2836	100693											
GYLTL1B	120071	broad.mit.edu	37	chr11	45947887	45947887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgctactctgaggcgTctgacctcaaggtgagtggg	15	10	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:45947887T>C	uc001nbv.1	+	8	1108	c.997T>C	c.(997-999)TCT>CCT	p.S333P	GYLTL1B_uc001nbw.1_Missense_Mutation_p.S302P|GYLTL1B_uc001nbx.1_Missense_Mutation_p.S333P|GYLTL1B_uc001nby.1_5'Flank|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	333	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CTCTGAGGCGTCTGACCTCAA	0.612													C	45947887	T	C	45947887	3	2	189	1	0	0	0	0	1	0	0	0	6907	1667	58	3	1023	3	GYLTL1B	11	45947887	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	276468	45947887	89058629	2837	100694											
PHF21A	51317	broad.mit.edu	37	chr11	45992799	45992799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctgactgttgatggcGgtcaccatagcaatggtagg	13	9	2	2	rs148927461		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:45992799G>A	uc001ncc.3	-	7	1104	c.480C>T	c.(478-480)ACC>ACT	p.T160T	PHF21A_uc001ncb.3_Silent_p.T160T|PHF21A_uc009ykx.2_Silent_p.T160T|PHF21A_uc001nce.2_Silent_p.T160T|PHF21A_uc001nca.1_5'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	160					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(1)|skin(1)	2						TGTTGATGGCGGTCACCATAG	0.547													A	45992799	G	A	45992799	2	1	189	1	0	0	0	0	0	0	0	1	11833	1103	39	1		1	PHF21A	11	45992799	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	44912	45992799	89013717	2838	100695											
AMBRA1	55626	broad.mit.edu	37	chr11	46564329	46564329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccactcagatcctgtcaacCcaggagctatttctcggtga	8	13	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:46564329C>A	uc010rgu.1	-	7	1598	c.1238G>T	c.(1237-1239)GGG>GTG	p.G413V	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.G413V|AMBRA1_uc001ncu.1_Missense_Mutation_p.G323V|AMBRA1_uc001ncv.2_Missense_Mutation_p.G323V|AMBRA1_uc001ncw.2_Missense_Mutation_p.G323V|AMBRA1_uc001ncx.2_Missense_Mutation_p.G413V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	413					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCTGTCAACCCAGGAGCTAT	0.602													A	46564329	C	A	46564329	3	1	189	1	0	0	0	0	1	0	0	0	565	623	22	5	2706	5	AMBRA1	11	46564329	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	571530	46564329	88442187	2839	100696											
ZNF408	79797	broad.mit.edu	37	chr11	46727107	46727107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgggctacaccctcccGcagagcctcaggcggcatca	12	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:46727107G>A	uc001nde.1	+	5	2087	c.1857G>A	c.(1855-1857)CCG>CCA	p.P619P	ZNF408_uc010rgw.1_Silent_p.P611P	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	619	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						ACACCCTCCCGCAGAGCCTCA	0.652													A	46727107	G	A	46727107	2	1	189	1	0	0	0	0	0	0	0	1	17885	1074	38	1		1	ZNF408	11	46727107	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	162778	46727107	88279409	2840	100697											
F2	2147	broad.mit.edu	37	chr11	46747671	46747671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggagggcgtgtggtgCtatgtggccgggaagcctgg	21	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:46747671C>T	uc001ndf.3	+	7	865	c.822C>T	c.(820-822)TGC>TGT	p.C274C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	274	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		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)	GCGTGTGGTGCTATGTGGCCG	0.607													T	46747671	C	T	46747671	2	4	189	1	0	0	0	0	0	0	0	1	5342	805	28	2		2	F2	11	46747671	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	20564	46747671	88258845	2841	100698											
F2	2147	broad.mit.edu	37	chr11	46747718	46747718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtactgcgacctcaactAttgtggtgagctgcctgggt	14	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:46747718A>G	uc001ndf.3	+	7	912	c.869A>G	c.(868-870)TAT>TGT	p.Y290C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	290	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		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)	GACCTCAACTATTGTGGTGAG	0.577													G	46747718	A	G	46747718	3	3	189	1	0	0	0	0	1	0	0	0	5342	449	16	3	895	3	F2	11	46747718	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	47	46747718	88258798	2842	100699											
CKAP5	9793	broad.mit.edu	37	chr11	46765729	46765729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcccggagctgagagagTttgctgtggagcatgtctgt	15	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:46765729T>C	uc001ndi.1	-	44	6053	c.5943A>G	c.(5941-5943)AAA>AAG	p.K1981K	CKAP5_uc009ylg.1_Silent_p.K1874K|CKAP5_uc001ndj.1_Silent_p.K1921K|CKAP5_uc001ndh.1_Silent_p.K910K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1981					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|protein binding			ovary(1)|skin(1)	2						GCTGAGAGAGTTTGCTGTGGA	0.537													C	46765729	T	C	46765729	2	2	189	1	0	0	0	0	0	0	0	1	3445	1722	60	3		3	CKAP5	11	46765729	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	18011	46765729	88240787	2843	100700											
CKAP5	9793	broad.mit.edu	37	chr11	46812114	46812114	+	Frame_Shift_Del	DEL	T	T	-													ctggtgcagctggtttccccTtttttggtggcccaccagcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:46812113_46812113CT>C	uc001ndi.2	-	13	1797	c.1671_1671AG>G	c.(1669-1671)aagfs	p.K557fs	CKAP5_uc009ylg.1_Frame_Shift_Del_p.K443fs|CKAP5_uc001ndj.2_Frame_Shift_Del_p.K557fs	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	557					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|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						CTGGTTTCCCCTTTTTTGGTG	0.388													-	46812114	T	-	46812114	7	5	189	1	0	1	0	1	0	0	0	0	3445	1609	56	0	4552	0	CKAP5	11	46812114	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	46385	46812114	88194402	2844	100701											
PACSIN3	29763	broad.mit.edu	37	chr11	47203980	47203980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacggtccccctccactttCgggcccagtcagccaactgc	8	20	1	0	rs147642333	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:47203980C>T	uc001ndw.2	-	4	523	c.185G>A	c.(184-186)CGA>CAA	p.R62Q	PACSIN3_uc001ndx.2_Missense_Mutation_p.R62Q|PACSIN3_uc001ndy.2_Missense_Mutation_p.R62Q|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	62	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0						CCTCCACTTTCGGGCCCAGTC	0.667													T	47203980	C	T	47203980	3	4	189	1	0	0	0	0	1	0	0	0	11376	884	31	1	1121	1	PACSIN3	11	47203980	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	391866	47203980	87802536	2845	100702											
SLC39A13	91252	broad.mit.edu	37	chr11	47436421	47436421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggggggcctactgggcGctggcttcgccatctgtacc	15	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:47436421G>A	uc009ylq.2	+	8	1051	c.880G>A	c.(880-882)GCT>ACT	p.A294T	SLC39A13_uc001nfd.2_3'UTR|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Missense_Mutation_p.A294T|SLC39A13_uc001nfg.3_Missense_Mutation_p.A294T	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter),	294	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				Lung(87;0.0936)		CCTACTGGGCGCTGGCTTCGC	0.662													A	47436421	G	A	47436421	3	1	189	1	0	0	0	0	1	0	0	0	14616	1087	38	1	906	1	SLC39A13	11	47436421	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	232441	47436421	87570095	2846	100703											
NUP160	23279	broad.mit.edu	37	chr11	47837550	47837550	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagttcactccaggaaagaTccaaattcctctcagttcct	5	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:47837550T>G	uc001ngm.2	-	12	1548	c.1463A>C	c.(1462-1464)GAT>GCT	p.D488A	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	488					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			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						CCAGGAAAGATCCAAATTCCT	0.348													G	47837550	T	G	47837550	3	3	189	1	0	0	0	0	1	0	0	0	10757	1435	50	5	2947	5	NUP160	11	47837550	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	401129	47837550	87168966	2847	100704											
PTPRJ	5795	broad.mit.edu	37	chr11	48152056	48152056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagtggtcagcacgaCggagatcggcttagcatgga	15	8	1	2	rs140690947	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:48152056C>T	uc001ngp.3	+	8	1758	c.1403C>T	c.(1402-1404)ACG>ATG	p.T468M	PTPRJ_uc001ngo.3_Missense_Mutation_p.T468M	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	468	Extracellular (Potential).|Fibronectin type-III 5.				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)|kidney(3)|ovary(1)|skin(1)	8						GTCAGCACGACGGAGATCGGC	0.468													T	48152056	C	T	48152056	3	4	189	1	0	0	0	0	1	0	0	0	12804	536	19	1	1433	1	PTPRJ	11	48152056	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	314506	48152056	86854460	2848	100705											
OR4C3	256144	broad.mit.edu	37	chr11	48347301	48347301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtggagcccacttcaTtgttgttgccttgttctttg	9	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:48347301T>C	uc010rhv.1	+	1	809	c.809T>C	c.(808-810)ATT>ACT	p.I270T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCCCACTTCATTGTTGTTGCC	0.438													C	48347301	T	C	48347301	3	2	189	1	0	0	0	0	1	0	0	0	11050	1493	52	3	811	3	OR4C3	11	48347301	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	195245	48347301	86659215	2849	100706											
FOLH1	2346	broad.mit.edu	37	chr11	49197411	49197411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaatagtctcttaacTgtgtagaaaagtttccagta	6	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:49197411T>C	uc001ngy.2	-	8	1280	c.1019A>G	c.(1018-1020)CAA>CGA	p.Q340R	FOLH1_uc001ngz.2_Missense_Mutation_p.Q340R|FOLH1_uc009yly.2_Missense_Mutation_p.Q325R|FOLH1_uc009ylz.2_Missense_Mutation_p.Q325R|FOLH1_uc009yma.2_Missense_Mutation_p.Q32R	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	340	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTCTTAACTGTGTAGAAAA	0.373													C	49197411	T	C	49197411	3	2	189	1	0	0	0	0	1	0	0	0	5979	1594	55	3	1281	3	FOLH1	11	49197411	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	850110	49197411	85809105	2850	100707											
OR4C46	119749	broad.mit.edu	37	chr11	51515506	51515506	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctattcctctgtcaaTacccctaacctgatcacaca	4	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:51515506T>C	uc010ric.1	+	1	225	c.225T>C	c.(223-225)AAT>AAC	p.N75N		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	75	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCTCTGTCAATACCCCTAACC	0.483													C	51515506	T	C	51515506	2	2	189	1	0	0	0	0	0	0	0	1	11051	1403	49	3		3	OR4C46	11	51515506	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2318095	51515506	83491010	2851	100708											
OR4A15	81328	broad.mit.edu	37	chr11	55135662	55135662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattcatagataccgtctaTtctactgcatttgctcccaa	4	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55135662T>C	uc010rif.1	+	1	303	c.303T>C	c.(301-303)TAT>TAC	p.Y101Y		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	101	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATACCGTCTATTCTACTGCAT	0.418													C	55135662	T	C	55135662	2	2	189	1	0	0	0	0	0	0	0	1	11040	1500	52	3		3	OR4A15	11	55135662	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3620156	55135662	79870854	2852	100709											
OR4C16	219428	broad.mit.edu	37	chr11	55339775	55339775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcacttaagaacccaatgTtcttcttccttttctactta	4	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55339775T>G	uc010rih.1	+	1	172	c.172T>G	c.(172-174)TTC>GTC	p.F58V		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GAACCCAATGTTCTTCTTCCT	0.388													G	55339775	T	G	55339775	3	3	189	1	0	0	0	0	1	0	0	0	11049	1725	60	5	174	5	OR4C16	11	55339775	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	204113	55339775	79666741	2853	100710											
OR4C11	219429	broad.mit.edu	37	chr11	55371683	55371683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatagaaagaagtacatgGggcttcctagtgtccggctg	12	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55371683G>T	uc010rii.1	-	1	167	c.167C>A	c.(166-168)CCC>CAC	p.P56H		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAAGTACATGGGGCTTCCTAG	0.378													T	55371683	G	T	55371683	3	4	189	1	0	0	0	0	1	0	0	0	11045	1232	43	5	767	5	OR4C11	11	55371683	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	31908	55371683	79634833	2854	100711											
OR5W2	390148	broad.mit.edu	37	chr11	55681578	55681578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcataggcggaaggccagtgTcatatgtatcaaagcatctg	12	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55681578T>C	uc010rir.1	-	1	481	c.481A>G	c.(481-483)ACA>GCA	p.T161A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AAGGCCAGTGTCATATGTATC	0.448													C	55681578	T	C	55681578	3	2	189	1	0	0	0	0	1	0	0	0	11185	1667	58	3	453	3	OR5W2	11	55681578	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	309895	55681578	79324938	2855	100712											
OR5F1	338674	broad.mit.edu	37	chr11	55761672	55761672	+	Frame_Shift_Del	DEL	T	T	-													agcaaaagccccggctgccaTttttaggtagacggtcctgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55761671_55761671AT>A	uc010riv.2	-	0	431	c.431_431AT>T	c.(430-432)atgfs	p.M144fs		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(2)		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)					CCCGGCTGCCATTTTTAGGTA	0.502													-	55761672	T	-	55761672	7	5	189	1	0	1	0	1	0	0	0	0	11158	1493	52	0	517	0	OR5F1	11	55761672	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	80094	55761672	79244844	2856	100713											
OR5AS1	219447	broad.mit.edu	37	chr11	55798339	55798339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcattgtgttggcaTatttcagtggaagtacaaca	9	7	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55798339T>C	uc010riw.1	+	1	445	c.445T>C	c.(445-447)TAT>CAT	p.Y149H		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TGTGTTGGCATATTTCAGTGG	0.458													C	55798339	T	C	55798339	3	2	189	1	0	0	0	0	1	0	0	0	11146	1406	49	3	447	3	OR5AS1	11	55798339	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	36667	55798339	79208177	2857	100714											
OR8H3	390152	broad.mit.edu	37	chr11	55890312	55890312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtgattggctttatggActcctttgtcaatgtggttt	10	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55890312A>G	uc001nii.1	+	1	464	c.464A>G	c.(463-465)GAC>GGC	p.D155G		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					GGCTTTATGGACTCCTTTGTC	0.448													G	55890312	A	G	55890312	3	3	189	1	0	0	0	0	1	0	0	0	11239	275	10	3	466	3	OR8H3	11	55890312	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	91973	55890312	79116204	2858	100715											
OR8H3	390152	broad.mit.edu	37	chr11	55890420	55890420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagctctgtcctgcactgAcacagacaacactgaaatgc	7	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55890420A>G	uc001nii.1	+	1	572	c.572A>G	c.(571-573)GAC>GGC	p.D191G		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TCCTGCACTGACACAGACAAC	0.423													G	55890420	A	G	55890420	3	3	189	1	0	0	0	0	1	0	0	0	11239	275	10	3	574	3	OR8H3	11	55890420	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	108	55890420	79116096	2859	100716											
OR8J3	81168	broad.mit.edu	37	chr11	55904915	55904915	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtggcacattcatagaAtgaggtagttttcttcttta	10	5	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55904915A>T	uc010riz.1	-	1	280	c.280T>A	c.(280-282)TTC>ATC	p.F94I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					CATTCATAGAATGAGGTAGTT	0.423													T	55904915	A	T	55904915	3	4	189	1	0	0	0	0	1	0	0	0	11242	101	4	5	669	5	OR8J3	11	55904915	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14495	55904915	79101601	2860	100717											
OR5J2	282775	broad.mit.edu	37	chr11	55944776	55944776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgctagcctaaggaTccactcagcatcaggcagac	9	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:55944776T>G	uc010rjb.1	+	1	683	c.683T>G	c.(682-684)ATC>AGC	p.I228S		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					AGCCTAAGGATCCACTCAGCA	0.463													G	55944776	T	G	55944776	3	3	189	1	0	0	0	0	1	0	0	0	11165	1435	50	5	685	5	OR5J2	11	55944776	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	39861	55944776	79061740	2861	100718											
OR5T3	390154	broad.mit.edu	37	chr11	56020656	56020656	+	Frame_Shift_Del	DEL	A	A	-													agtttgaggaacaaagaagtAaaaaaggcagtgaagaaaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:56020655_56020655TA>T	uc010rjd.2	+	0	980	c.980_980TA>T	c.(979-981)gtafs	p.V327fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	327					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)					AACAAAGAAGTAAAAAAGGCA	0.318													-	56020656	A	-	56020656	7	5	189	1	0	1	0	1	0	0	0	0	11183	349	13	0	983	0	OR5T3	11	56020656	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	75880	56020656	78985860	2862	100719											
OR5T1	390155	broad.mit.edu	37	chr11	56043602	56043602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcactgcttcctatgttgCtagcattttacatgctacta	5	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:56043602C>T	uc001nio.1	+	1	488	c.488C>T	c.(487-489)GCT>GTT	p.A163V		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	163	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TCCTATGTTGCTAGCATTTTA	0.433													T	56043602	C	T	56043602	3	4	189	1	0	0	0	0	1	0	0	0	11181	797	28	2	490	2	OR5T1	11	56043602	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	22946	56043602	78962914	2863	100720											
OR8J1	219477	broad.mit.edu	37	chr11	56128242	56128242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttattgctcttctaatataAtcaatcatttttactgtgat	3	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:56128242A>G	uc010rjh.1	+	1	520	c.520A>G	c.(520-522)ATC>GTC	p.I174V		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TTCTAATATAATCAATCATTT	0.368													G	56128242	A	G	56128242	3	3	189	1	0	0	0	0	1	0	0	0	11241	101	4	3	522	3	OR8J1	11	56128242	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	84640	56128242	78878274	2864	100721											
OR8J1	219477	broad.mit.edu	37	chr11	56128506	56128506	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctattcatgtatgtgcagCcccgaagtaaccattcactg	8	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:56128506C>G	uc010rjh.1	+	1	784	c.784C>G	c.(784-786)CCC>GCC	p.P262A		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTATGTGCAGCCCCGAAGTAA	0.408													G	56128506	C	G	56128506	3	3	189	1	0	0	0	0	1	0	0	0	11241	739	26	5	786	5	OR8J1	11	56128506	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	264	56128506	78878010	2865	100722											
OR5AK2	390181	broad.mit.edu	37	chr11	56756569	56756569	+	Frame_Shift_Del	DEL	T	T	-													gatttcaaacactcacgtacTtttttctacaacatttggct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:56756568_56756568CT>C	uc010rjp.2	+	0	180	c.180_180CT>C	c.(178-180)tacfs	p.Y60fs		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T59T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CACTCACGTACTTTTTTCTAC	0.353													-	56756569	T	-	56756569	7	5	189	1	0	1	0	1	0	0	0	0	11142	1609	56	0	183	0	OR5AK2	11	56756569	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	628063	56756569	78249947	2866	100723											
APLNR	187	broad.mit.edu	37	chr11	57003976	57003976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaagtccccggtggtgCgtaacaccatgacaggcatg	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57003976C>T	uc001njo.2	-	1	952	c.503G>A	c.(502-504)CGC>CAC	p.R168H	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	168	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						CCCGGTGGTGCGTAACACCAT	0.642													T	57003976	C	T	57003976	3	4	189	1	0	0	0	0	1	0	0	0	777	768	27	1	643	1	APLNR	11	57003976	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	247407	57003976	78002540	2867	100724											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077118	57077119	+	Frame_Shift_Del	DEL	CT	CT	-													actgaacaagcccccggatcCtctctctcctggccggccag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57077117_57077118CCT>C	uc001njr.3	-	4	3379_3380	c.3067_3068AGG>G	c.(3067-3069)ggafs	p.G1023fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G1023fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.G474fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1023	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)				GCCCCCGGATCCTCTCTCTCCT	0.594													-	57077119	CT	-	57077118	7	5	189	1	0	1	0	1	0	0	0	0	16317	690	24	0	2146	0	TNKS1BP1	11	57077118	Frame_Shift_Del	DEL	CT	TCGA-CG-5721-01A-11D-1600-08	73142	57077118	77929398	2868	100725											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077433	57077433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcggcatcctggctgctgtAcctaccatggtggtccctct	10	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57077433A>G	uc001njr.2	-	5	3064	c.2752T>C	c.(2752-2754)TAC>CAC	p.Y918H	TNKS1BP1_uc001njs.2_Missense_Mutation_p.Y918H|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.Y369H	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	918	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				TGGCTGCTGTACCTACCATGG	0.572													G	57077433	A	G	57077433	3	3	189	1	0	0	0	0	1	0	0	0	16317	391	14	3	2461	3	TNKS1BP1	11	57077433	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	315	57077433	77929083	2869	100726											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077573	57077574	+	Frame_Shift_Del	DEL	TC	TC	-													tactgtaggtacccagtgaaTctctctttccgaattcctgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57077572_57077573ATC>A	uc001njr.3	-	4	2924_2925	c.2612_2613GAT>T	c.(2611-2613)gatfs	p.D871fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.D871fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.D322fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	871	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)				TACCCAGTGAATCTCTCTTTCC	0.53													-	57077574	TC	-	57077573	7	5	189	1	0	1	0	1	0	0	0	0	16317	1435	50	0	2601	0	TNKS1BP1	11	57077573	Frame_Shift_Del	DEL	TC	TCGA-CG-5721-01A-11D-1600-08	140	57077573	77928943	2870	100727											
SLC43A3	29015	broad.mit.edu	37	chr11	57182546	57182546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtagctccagaaggagCggagttcctgcttctgccct	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57182546C>T	uc001nkg.2	-	10	1213	c.803G>A	c.(802-804)CGC>CAC	p.R268H	PRG2_uc001nke.2_Missense_Mutation_p.R167H|SLC43A3_uc001nkh.2_Missense_Mutation_p.R268H|SLC43A3_uc010rjr.1_Missense_Mutation_p.R281H|SLC43A3_uc009yme.2_Missense_Mutation_p.R268H|SLC43A3_uc001nki.2_Missense_Mutation_p.R268H|SLC43A3_uc009ymf.1_Missense_Mutation_p.R268H	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	268					transmembrane transport	integral to membrane				central_nervous_system(1)	1						CCAGAAGGAGCGGAGTTCCTG	0.572													T	57182546	C	T	57182546	3	4	189	1	0	0	0	0	1	0	0	0	14634	768	27	1	692	1	SLC43A3	11	57182546	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	104973	57182546	77823970	2871	100728											
UBE2L6	9246	broad.mit.edu	37	chr11	57319863	57319863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccactccgaatcggagggTgaactcttcggcattctttc	10	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57319863T>C	uc001nkn.1	-	4	526	c.430A>G	c.(430-432)ACC>GCC	p.T144A	UBE2L6_uc001nko.1_Missense_Mutation_p.T78A	NM_004223	NP_004214	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6 isoform 1	144					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						AATCGGAGGGTGAACTCTTCG	0.577													C	57319863	T	C	57319863	3	2	189	1	0	0	0	0	1	0	0	0	16861	1696	59	3	35	3	UBE2L6	11	57319863	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	137317	57319863	77686653	2872	100729											
CLP1	10978	broad.mit.edu	37	chr11	57428563	57428563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatggattccgaggctgTttctatccccatgccttcaa	7	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57428563T>C	uc001nkw.2	+	3	1072	c.933T>C	c.(931-933)TGT>TGC	p.C311C	CLP1_uc010rjw.1_Silent_p.C247C|CLP1_uc009yml.2_Silent_p.C311C	NM_006831	NP_006822	Q92989	CLP1_HUMAN	ATP/GTP-binding protein isoform 1	311					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			ovary(1)	1						TCCGAGGCTGTTTCTATCCCC	0.498													C	57428563	T	C	57428563	2	2	189	1	0	0	0	0	0	0	0	1	3550	1731	60	3		3	CLP1	11	57428563	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	108700	57428563	77577953	2873	100730											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466793	57466793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaccaggcccaacagccCcatacctgggccgatcgatg	10	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57466793C>A	uc001nkx.1	+	11	3141	c.1885C>A	c.(1885-1887)CCA>ACA	p.P629T	ZDHHC5_uc001nky.1_Missense_Mutation_p.P576T|ZDHHC5_uc001nkz.1_Missense_Mutation_p.P443T	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	629						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CCCAACAGCCCCATACCTGGG	0.597													A	57466793	C	A	57466793	3	1	189	1	0	0	0	0	1	0	0	0	17615	623	22	5	1923	5	ZDHHC5	11	57466793	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	38230	57466793	77539723	2874	100731											
CTNND1	1500	broad.mit.edu	37	chr11	57564331	57564331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtggatctgcatcgcTttcatccagagccttatggg	12	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57564331T>C	uc001nmc.3	+	6	1394	c.823T>C	c.(823-825)TTT>CTT	p.F275L	CTNND1_uc001nlf.1_Missense_Mutation_p.F275L|CTNND1_uc001nlh.1_Missense_Mutation_p.F275L|CTNND1_uc001nlu.3_Missense_Mutation_p.F174L|CTNND1_uc001nlt.3_Missense_Mutation_p.F174L|CTNND1_uc001nls.3_Missense_Mutation_p.F174L|CTNND1_uc001nlw.3_Missense_Mutation_p.F174L|CTNND1_uc001nmf.3_Missense_Mutation_p.F275L|CTNND1_uc001nmd.3_Missense_Mutation_p.F221L|CTNND1_uc001nlk.3_Missense_Mutation_p.F221L|CTNND1_uc001nme.3_Missense_Mutation_p.F275L|CTNND1_uc001nll.3_Missense_Mutation_p.F221L|CTNND1_uc001nmg.3_Missense_Mutation_p.F221L|CTNND1_uc001nlj.3_Missense_Mutation_p.F221L|CTNND1_uc001nlr.3_Missense_Mutation_p.F221L|CTNND1_uc001nlp.3_Missense_Mutation_p.F221L|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Missense_Mutation_p.F275L|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Missense_Mutation_p.F174L|CTNND1_uc001nmh.3_Missense_Mutation_p.F275L|CTNND1_uc001nlq.3_Missense_Mutation_p.F174L|CTNND1_uc001nln.3_Missense_Mutation_p.F275L|CTNND1_uc001nli.3_Missense_Mutation_p.F275L|CTNND1_uc001nlo.3_Missense_Mutation_p.F174L|CTNND1_uc001nlv.3_Missense_Mutation_p.F174L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	275					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(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				TCTGCATCGCTTTCATCCAGA	0.557													C	57564331	T	C	57564331	3	2	189	1	0	0	0	0	1	0	0	0	4019	1609	56	3	837	3	CTNND1	11	57564331	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	97538	57564331	77442185	2875	100732											
OR9I1	219954	broad.mit.edu	37	chr11	57886082	57886082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatggggatgaccactgTatagaagacagacacgactt	11	9	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57886082T>C	uc001nml.1	-	1	835	c.835A>G	c.(835-837)ACA>GCA	p.T279A	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				ATGACCACTGTATAGAAGACA	0.478													C	57886082	T	C	57886082	3	2	189	1	0	0	0	0	1	0	0	0	11253	1638	57	3	113	3	OR9I1	11	57886082	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	321751	57886082	77120434	2876	100733											
OR9Q2	219957	broad.mit.edu	37	chr11	57958080	57958080	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctatcttgccactatgTtagggaacacaggcatgatc	9	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57958080T>C	uc010rka.1	+	1	118	c.118T>C	c.(118-120)TTA>CTA	p.L40L		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				TGCCACTATGTTAGGGAACAC	0.498													C	57958080	T	C	57958080	2	2	189	1	0	0	0	0	0	0	0	1	11256	1722	60	3		3	OR9Q2	11	57958080	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	71998	57958080	77048436	2877	100734											
OR10Q1	219960	broad.mit.edu	37	chr11	57995544	57995544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctctgaggtgctggaCcgaggacgcaggtacacgag	14	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:57995544C>T	uc010rkd.1	-	1	804	c.804G>A	c.(802-804)CGG>CGA	p.R268R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				AGGTGCTGGACCGAGGACGCA	0.602													T	57995544	C	T	57995544	2	4	189	1	0	0	0	0	0	0	0	1	10916	494	18	4		4	OR10Q1	11	57995544	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	37464	57995544	77010972	2878	100735											
OR5B3	441608	broad.mit.edu	37	chr11	58170499	58170499	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggttgtggtgtaatgTaggggtttgcacactgctgc	15	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:58170499T>A	uc010rkf.1	-	1	384	c.384A>T	c.(382-384)CTA>CTT	p.L128L		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGTGTAATGTAGGGGTTTGC	0.493													A	58170499	T	A	58170499	2	1	189	1	0	0	0	0	0	0	0	1	11152	1625	57	5		5	OR5B3	11	58170499	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	174955	58170499	76836017	2879	100736											
OR5B2	390190	broad.mit.edu	37	chr11	58190572	58190573	+	Frame_Shift_Ins	INS	-	-	A													aggaaaaagtacatgggggtINSgtggagacaagagtccatca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:58190571_58190572G>GA	uc010rkg.2	-	0	215_216	c.163_164C>TC	c.(163-165)accfs	p.T55fs		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H54Y(1)|p.T55T(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTACATGGGGGTGTGGAGACAA	0.505													A	58190573	-	A	58190572	7	5	189	1	0	1	1	0	0	0	0	0	11150	1696	59	0	770	0	OR5B2	11	58190572	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	20073	58190572	76815944	2880	100737											
OR5B2	390190	broad.mit.edu	37	chr11	58190667	58190667	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaagataaagagggggAtctgtagttctgggacactg	14	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:58190667A>C	uc010rkg.1	-	1	68	c.68T>G	c.(67-69)ATC>AGC	p.I23S		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAGAGGGGGATCTGTAGTTC	0.458													C	58190667	A	C	58190667	3	2	189	1	0	0	0	0	1	0	0	0	11150	333	12	5	865	5	OR5B2	11	58190667	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	95	58190667	76815849	2881	100738											
OR4D9	390199	broad.mit.edu	37	chr11	59283042	59283042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctcctcatatcttacacGgtcatcttgatgatgctgag	7	10	5	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:59283042G>A	uc010rkv.1	+	1	657	c.657G>A	c.(655-657)ACG>ACA	p.T219T		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATCTTACACGGTCATCTTGA	0.493													A	59283042	G	A	59283042	2	1	189	1	0	0	0	0	0	0	0	1	11059	1103	39	1		1	OR4D9	11	59283042	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1092375	59283042	75723474	2882	100739											
PATL1	219988	broad.mit.edu	37	chr11	59424057	59424057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggccgaacatggacaGgcttcggacacagaatctat	13	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:59424057G>T	uc001noe.3	-	6	781	c.638C>A	c.(637-639)CCT>CAT	p.P213H	PATL1_uc009yms.1_Missense_Mutation_p.P213H|PATL1_uc010rkw.1_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	213	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						AACATGGACAGGCTTCGGACA	0.483													T	59424057	G	T	59424057	3	4	189	1	0	0	0	0	1	0	0	0	11475	1000	35	5	1730	5	PATL1	11	59424057	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	141015	59424057	75582459	2883	100740											
PATL1	219988	broad.mit.edu	37	chr11	59425039	59425039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagccatctgtttaggTggggtgcctatggggacagc	16	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:59425039T>C	uc001noe.3	-	5	728	c.585A>G	c.(583-585)CCA>CCG	p.P195P	PATL1_uc009yms.1_Silent_p.P195P|PATL1_uc010rkw.1_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	195	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						TCTGTTTAGGTGGGGTGCCTA	0.488													C	59425039	T	C	59425039	2	2	189	1	0	0	0	0	0	0	0	1	11475	1683	59	3		3	PATL1	11	59425039	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	982	59425039	75581477	2884	100741											
MRPL16	54948	broad.mit.edu	37	chr11	59574011	59574011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtcccgcggctcacagCctttgctgcgaagggcaact	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:59574011C>T	uc001noh.2	-	4	779	c.565G>A	c.(565-567)GCT>ACT	p.A189T		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16 precursor	189							rRNA binding			central_nervous_system(1)	1						CGGCTCACAGCCTTTGCTGCG	0.522													T	59574011	C	T	59574011	3	4	189	1	0	0	0	0	1	0	0	0	9781	739	26	2	194	2	MRPL16	11	59574011	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	148972	59574011	75432505	2885	100742											
MS4A10	341116	broad.mit.edu	37	chr11	60557963	60557963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacgagaagtcccagaAgaagagcagccttcttaagg	11	11	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:60557963A>G	uc001npz.1	+	2	251	c.155A>G	c.(154-156)AAG>AGG	p.K52R		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	52	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						AAGTCCCAGAAGAAGAGCAGC	0.622													G	60557963	A	G	60557963	3	3	189	1	0	0	0	0	1	0	0	0	9855	72	3	3	157	3	MS4A10	11	60557963	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	983952	60557963	74448553	2886	100743											
TMEM109	79073	broad.mit.edu	37	chr11	60689377	60689377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttggccttgctggggCggatcctgtggggcctgaag	18	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:60689377C>T	uc001nqg.2	+	4	850	c.472C>T	c.(472-474)CGG>TGG	p.R158W	TMEM109_uc001nqh.2_Missense_Mutation_p.R158W|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	158						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						CTTGCTGGGGCGGATCCTGTG	0.667													T	60689377	C	T	60689377	3	4	189	1	0	0	0	0	1	0	0	0	16022	759	27	1	482	1	TMEM109	11	60689377	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	131414	60689377	74317139	2887	100744											
CD6	923	broad.mit.edu	37	chr11	60781400	60781400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctccctcagccctccccgTaatggtgaaccaccagcacc	6	21	1	1	rs112948328		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:60781400T>C	uc001nqq.2	+	8	1524	c.1301T>C	c.(1300-1302)GTA>GCA	p.V434A	CD6_uc001nqp.2_Missense_Mutation_p.V434A|CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.V434A	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	434	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						GCCCTCCCCGTAATGGTGAAC	0.562													C	60781400	T	C	60781400	3	2	189	1	0	0	0	0	1	0	0	0	3028	1638	57	3	1331	3	CD6	11	60781400	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	92023	60781400	74225116	2888	100745											
PGA3	643834	broad.mit.edu	37	chr11	60971733	60971733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgaacagcccctggagaacTacctggatgtgagtgtgcgg	14	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:60971733T>A	uc001nqx.2	+	2	264	c.211T>A	c.(211-213)TAC>AAC	p.Y71N	PGA3_uc010rld.1_Missense_Mutation_p.Y71N	NM_001079807	NP_001073275			pepsinogen 3, group I precursor											ovary(1)|skin(1)	2						CCTGGAGAACTACCTGGATGT	0.607													A	60971733	T	A	60971733	3	1	189	1	0	0	0	0	1	0	0	0	11771	1522	53	5	217	5	PGA3	11	60971733	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	190333	60971733	74034783	2889	100746											
DAK	26007	broad.mit.edu	37	chr11	61106890	61106890	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggggctgtgcggcAcggtgcttatacacaaggtg	18	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:61106890A>C	uc001nre.2	+	5	726	c.469A>C	c.(469-471)ACG>CCG	p.T157P	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Missense_Mutation_p.T87P	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	157	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						GCTGTGCGGCACGGTGCTTAT	0.617													C	61106890	A	C	61106890	3	2	189	1	0	0	0	0	1	0	0	0	4228	159	6	5	483	5	DAK	11	61106890	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	135157	61106890	73899626	2890	100747											
DAK	26007	broad.mit.edu	37	chr11	61111397	61111397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgggcggaagcggagccGggtagcccctgccgagcccc	16	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:61111397G>A	uc001nre.2	+	12	1309	c.1052G>A	c.(1051-1053)CGG>CAG	p.R351Q	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.R281Q	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	351					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						AAGCGGAGCCGGGTAGCCCCT	0.607													A	61111397	G	A	61111397	3	1	189	1	0	0	0	0	1	0	0	0	4228	1116	39	1	1094	1	DAK	11	61111397	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4507	61111397	73895119	2891	100748											
DAGLA	747	broad.mit.edu	37	chr11	61511005	61511005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctctccctctgcaggAgcaagtcccagtctgagatg	9	15	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:61511005A>G	uc001nsa.2	+	20	2284	c.2173A>G	c.(2173-2175)AGC>GGC	p.S725G		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	725	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CCTCTGCAGGAGCAAGTCCCA	0.632													G	61511005	A	G	61511005	3	3	189	1	0	0	0	0	1	0	0	0	4226	318	11	3	2247	3	DAGLA	11	61511005	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	399608	61511005	73495511	2892	100749											
RAB3IL1	5866	broad.mit.edu	37	chr11	61675578	61675578	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actcggagcccttctctcggAtctccatggaagagctgcgc	11	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:61675578A>T	uc001nso.2	-	2	370	c.212T>A	c.(211-213)ATC>AAC	p.I71N	RAB3IL1_uc001nsp.2_Missense_Mutation_p.I118N	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	71							protein binding			skin(2)|central_nervous_system(1)	3						CTTCTCTCGGATCTCCATGGA	0.672													T	61675578	A	T	61675578	3	4	189	1	0	0	0	0	1	0	0	0	12937	333	12	5	972	5	RAB3IL1	11	61675578	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	164573	61675578	73330938	2893	100750											
AHNAK	79026	broad.mit.edu	37	chr11	62285758	62285758	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagggcatttgatgtcaccAgagacagccagatctccctg	10	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62285758A>G	uc001ntl.2	-	5	16431	c.16131T>C	c.(16129-16131)TCT>TCC	p.S5377S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5377					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGATGTCACCAGAGACAGCCA	0.517													G	62285758	A	G	62285758	2	3	189	1	0	0	0	0	0	0	0	1	414	175	7	3		3	AHNAK	11	62285758	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	610180	62285758	72720758	2894	100751											
AHNAK	79026	broad.mit.edu	37	chr11	62297276	62297276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctgaaacaccaaggTcagccttgggcaggttcata	12	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62297276T>C	uc001ntl.2	-	5	4913	c.4613A>G	c.(4612-4614)GAC>GGC	p.D1538G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1538					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AACACCAAGGTCAGCCTTGGG	0.507													C	62297276	T	C	62297276	3	2	189	1	0	0	0	0	1	0	0	0	414	1667	58	3	13179	3	AHNAK	11	62297276	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11518	62297276	72709240	2895	100752											
AHNAK	79026	broad.mit.edu	37	chr11	62299953	62299953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagtcatatgaacatctgGaccttcccctttggctcctg	8	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62299953G>A	uc001ntl.2	-	5	2236	c.1936C>T	c.(1936-1938)CCA>TCA	p.P646S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	646					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGAACATCTGGACCTTCCCCT	0.522													A	62299953	G	A	62299953	3	1	189	1	0	0	0	0	1	0	0	0	414	1174	41	4	15856	4	AHNAK	11	62299953	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2677	62299953	72706563	2896	100753											
TUT1	64852	broad.mit.edu	37	chr11	62342880	62342880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttgccacactcggtgccAcaaggcacagcgccagctcg	10	18	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62342880A>G	uc001nto.2	-	9	2463	c.2425T>C	c.(2425-2427)TGG>CGG	p.W809R	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.W305R	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	771					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						ACTCGGTGCCACAAGGCACAG	0.677													G	62342880	A	G	62342880	3	3	189	1	0	0	0	0	1	0	0	0	16777	159	6	3	317	3	TUT1	11	62342880	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	42927	62342880	72663636	2897	100754											
MTA2	9219	broad.mit.edu	37	chr11	62364226	62364226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacacagcaccgggcctccCtggggtaccagggtcgacat	13	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62364226C>A	uc001ntq.1	-	9	1146	c.765G>T	c.(763-765)CAG>CAT	p.Q255H	MTA2_uc010rlx.1_Missense_Mutation_p.Q82H	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	255	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCGGGCCTCCCTGGGGTACCA	0.557													A	62364226	C	A	62364226	3	1	189	1	0	0	0	0	1	0	0	0	9909	680	24	5	1281	5	MTA2	11	62364226	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21346	62364226	72642290	2898	100755											
EML3	256364	broad.mit.edu	37	chr11	62378802	62378802	+	Frame_Shift_Del	DEL	G	G	-													tgcacgtgggtggcagtcctGggggggctgcaagactgctg					rs11553576	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62378801_62378801TG>T	uc010rly.1	-	2	518	c.210_210CA>A	c.(208-210)ccafs	p.P70fs	EML3_uc001ntr.1_Frame_Shift_Del_p.P42fs|EML3_uc001nts.1_Frame_Shift_Del_p.P42fs|EML3_uc001ntt.1_5'UTR|EML3_uc001ntu.1_Frame_Shift_Del_p.P70fs|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	70						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						GTGGCAGTCCTGGGGGGGCTG	0.602													-	62378802	G	-	62378802	7	5	189	1	0	1	0	1	0	0	0	0	5098	1348	47	0	2561	0	EML3	11	62378802	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	14576	62378802	72627714	2899	100756											
GANAB	23193	broad.mit.edu	37	chr11	62397917	62397917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacagccccaggttccgcaGctcctcgtgaactcggtagc	10	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62397917G>T	uc001nub.2	-	12	1480	c.1447C>A	c.(1447-1449)CTG>ATG	p.L483M	GANAB_uc001nua.2_Missense_Mutation_p.L505M|GANAB_uc001nuc.2_Missense_Mutation_p.L386M|GANAB_uc010rma.1_Missense_Mutation_p.L391M|GANAB_uc010rmb.1_Missense_Mutation_p.L369M	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	483					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			ovary(3)|central_nervous_system(1)|skin(1)	5						AGGTTCCGCAGCTCCTCGTGA	0.577													T	62397917	G	T	62397917	3	4	189	1	0	0	0	0	1	0	0	0	6233	962	34	5	1439	5	GANAB	11	62397917	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	19115	62397917	72608599	2900	100757											
INTS5	80789	broad.mit.edu	37	chr11	62417003	62417003	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaatgtacgcgtggccctAcaacccatccacagctgtag	8	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62417003A>G	uc001nud.2	-	2	602	c.549T>C	c.(547-549)TGT>TGC	p.C183C	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	183					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						GCGTGGCCCTACAACCCATCC	0.562													G	62417003	A	G	62417003	2	3	189	1	0	0	0	0	0	0	0	1	7781	389	14	3		3	INTS5	11	62417003	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	19086	62417003	72589513	2901	100758											
C11orf83	790955	broad.mit.edu	37	chr11	62439509	62439509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactctgcaggaggcagcgAccacgcaggagaacgtggcc	14	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62439509A>G	uc001nui.3	+	2	297	c.205A>G	c.(205-207)ACC>GCC	p.T69A	C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN	hypothetical protein LOC790955 precursor	69						extracellular region					0						GGAGGCAGCGACCACGCAGGA	0.682													G	62439509	A	G	62439509	3	3	189	1	0	0	0	0	1	0	0	0	1666	275	10	3	211	3	C11orf83	11	62439509	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	22506	62439509	72567007	2902	100759											
ZBTB3	79842	broad.mit.edu	37	chr11	62520195	62520195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgacacatcagtctcTtcatcagagatcacaatagc	5	12	7	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62520195T>G	uc001nuz.2	-	2	1214	c.1092A>C	c.(1090-1092)GAA>GAC	p.E364D		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						CATCAGTCTCTTCATCAGAGA	0.398													G	62520195	T	G	62520195	3	3	189	1	0	0	0	0	1	0	0	0	17531	1606	56	5	636	5	ZBTB3	11	62520195	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	80686	62520195	72486321	2903	100760											
SLC22A6	9356	broad.mit.edu	37	chr11	62751091	62751091	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtagatggggaagttgggTgcgaaggctgcgcaggtccc	18	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62751091T>C	uc001nwk.2	-	3	853	c.546A>G	c.(544-546)GCA>GCG	p.A182A	SLC22A6_uc001nwl.2_Silent_p.A182A|SLC22A6_uc001nwj.2_Silent_p.A182A|SLC22A6_uc001nwm.2_Silent_p.A182A	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	182	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						GGAAGTTGGGTGCGAAGGCTG	0.592													C	62751091	T	C	62751091	2	2	189	1	0	0	0	0	0	0	0	1	14458	1683	59	3		3	SLC22A6	11	62751091	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	230896	62751091	72255425	2904	100761											
SLC22A25	387601	broad.mit.edu	37	chr11	62931516	62931516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctcccccaatattagcaAagtttccagtgattccagta	8	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:62931516A>G	uc001nwr.1	-	9	1424	c.1424T>C	c.(1423-1425)TTT>TCT	p.F475S	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	475	Helical; Name=11; (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						AATATTAGCAAAGTTTCCAGT	0.413													G	62931516	A	G	62931516	3	3	189	1	0	0	0	0	1	0	0	0	14454	14	1	3	223	3	SLC22A25	11	62931516	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	180425	62931516	72075000	2905	100762											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	189	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	488534	63420050	71586466	2906	100763											
RTN3	10313	broad.mit.edu	37	chr11	63487482	63487482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtgagtctgatgacaCagtaatagaggacatcacag	11	7	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:63487482C>T	uc001nxq.2	+	3	1695	c.1508C>T	c.(1507-1509)ACA>ATA	p.T503I	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.T484I|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.T391I|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	503					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				ovary(1)	1						TCTGATGACACAGTAATAGAG	0.408													T	63487482	C	T	63487482	3	4	189	1	0	0	0	0	1	0	0	0	13727	478	17	4	1518	4	RTN3	11	63487482	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	67432	63487482	71519034	2907	100764											
RCOR2	283248	broad.mit.edu	37	chr11	63681926	63681926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccccccagccgccgggCctgtctgtccatcacactag	11	19	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:63681926C>T	uc001nyc.2	-	6	956	c.568G>A	c.(568-570)GCC>ACC	p.A190T		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						AGCCGCCGGGCCTGTCTGTCC	0.597													T	63681926	C	T	63681926	3	4	189	1	0	0	0	0	1	0	0	0	13183	739	26	2	1031	2	RCOR2	11	63681926	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	194444	63681926	71324590	2908	100765											
FLRT1	23769	broad.mit.edu	37	chr11	63884888	63884888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgttttgagacggggccGcagggcggcgtggccaatgc	19	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:63884888G>A	uc001nyi.1	+	2	1490	c.1149G>A	c.(1147-1149)CCG>CCA	p.P383P	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	355	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						AGACGGGGCCGCAGGGCGGCG	0.647													A	63884888	G	A	63884888	2	1	189	1	0	0	0	0	0	0	0	1	5938	1074	38	1		1	FLRT1	11	63884888	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	202962	63884888	71121628	2909	100766											
STIP1	10963	broad.mit.edu	37	chr11	63965054	63965054	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaaaaccgagaagactatCgacagattgccaagtaggct	11	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:63965054C>T	uc001nyk.1	+	7	1036	c.889C>T	c.(889-891)CGA>TGA	p.R297*	STIP1_uc010rnb.1_Nonsense_Mutation_p.R273*	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	297					axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						AGAAGACTATCGACAGATTGC	0.517													T	63965054	C	T	63965054	4	4	189	1	0	0	0	0	0	1	0	0	15284	876	31	1	915	1	STIP1	11	63965054	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	80166	63965054	71041462	2910	100767											
CCDC88B	283234	broad.mit.edu	37	chr11	64120560	64120560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagagttgtctcgggagCggggtgagctgcagggtgaa	20	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64120560C>T	uc001nzy.2	+	21	3579	c.3535C>T	c.(3535-3537)CGG>TGG	p.R1179W	CCDC88B_uc009ypo.1_Missense_Mutation_p.R1176W|CCDC88B_uc001oaa.2_Missense_Mutation_p.R331W|CCDC88B_uc001oab.1_Missense_Mutation_p.R10W|CCDC88B_uc001oac.2_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1179	Potential.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						GTCTCGGGAGCGGGGTGAGCT	0.682													T	64120560	C	T	64120560	3	4	189	1	0	0	0	0	1	0	0	0	2864	759	27	1	3617	1	CCDC88B	11	64120560	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	155506	64120560	70885956	2911	100768											
NRXN2	9379	broad.mit.edu	37	chr11	64398015	64398015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaatgtcgtccgtgcccaCgttaaagatcacccccacgg	10	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64398015C>T	uc001oap.2	-	4	989	c.478G>A	c.(478-480)GTG>ATG	p.V160M	NRXN2_uc001oar.2_Missense_Mutation_p.V1206M|NRXN2_uc001oas.2_Missense_Mutation_p.V1166M|NRXN2_uc001oaq.2_Missense_Mutation_p.V873M	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	160	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TCCGTGCCCACGTTAAAGATC	0.602													T	64398015	C	T	64398015	3	4	189	1	0	0	0	0	1	0	0	0	10666	536	19	1	1542	1	NRXN2	11	64398015	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	277455	64398015	70608501	2912	100769											
NRXN2	9379	broad.mit.edu	37	chr11	64419563	64419563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccacgccggaccaccCtcaccgtgtgccactcattg	8	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64419563C>T	uc001oar.2	-	14	2919	c.2480G>A	c.(2479-2481)AGG>AAG	p.R827K	NRXN2_uc001oas.2_Missense_Mutation_p.R787K|NRXN2_uc001oaq.2_Missense_Mutation_p.R494K	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	183	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCGGACCACCCTCACCGTGTG	0.612													T	64419563	C	T	64419563	3	4	189	1	0	0	0	0	1	0	0	0	10666	681	24	4	2971	4	NRXN2	11	64419563	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21548	64419563	70586953	2913	100770											
ATG2A	23130	broad.mit.edu	37	chr11	64677290	64677290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcctggcccgcccaggggTccggctcaggccgcaggtcg	17	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64677290T>C	uc001obx.2	-	14	2085	c.1970A>G	c.(1969-1971)GAC>GGC	p.D657G		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	657							protein binding			ovary(1)|central_nervous_system(1)	2						CGCCCAGGGGTCCGGCTCAGG	0.711													C	64677290	T	C	64677290	3	2	189	1	0	0	0	0	1	0	0	0	1093	1667	58	3	3958	3	ATG2A	11	64677290	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	257727	64677290	70329226	2914	100771											
GPHA2	170589	broad.mit.edu	37	chr11	64702546	64702546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccaccagcacagagtaccGagaagggaaggcgctggact	15	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64702546G>A	uc001oca.2	-	3	260	c.205C>T	c.(205-207)CGG>TGG	p.R69W		NM_130769	NP_570125	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2 precursor	69						extracellular region	hormone activity				0						ACAGAGTACCGAGAAGGGAAG	0.622													A	64702546	G	A	64702546	3	1	189	1	0	0	0	0	1	0	0	0	6608	1057	37	1	192	1	GPHA2	11	64702546	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	25256	64702546	70303970	2915	100772											
SAC3D1	29901	broad.mit.edu	37	chr11	64811817	64811817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatgctgcccgcctgtTccgtctgctccagaccctgc	11	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64811817T>C	uc001ocm.2	+	2	1084	c.695T>C	c.(694-696)TTC>TCC	p.F232S	SAC3D1_uc010rnv.1_Missense_Mutation_p.F219S	NM_013299	NP_037431			SAC3 domain containing 1												0						GCCCGCCTGTTCCGTCTGCTC	0.682													C	64811817	T	C	64811817	3	2	189	1	0	0	0	0	1	0	0	0	13802	1783	62	3	701	3	SAC3D1	11	64811817	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	109271	64811817	70194699	2916	100773											
ZFPL1	7542	broad.mit.edu	37	chr11	64855573	64855573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaaccctcacatccgcgTgggcccctcctgagccccct	8	20	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64855573T>C	uc001ocq.1	+	8	1085	c.920T>C	c.(919-921)GTG>GCG	p.V307A		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	307	Lumenal (Potential).				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACATCCGCGTGGGCCCCTCC	0.652													C	64855573	T	C	64855573	3	2	189	1	0	0	0	0	1	0	0	0	17653	1696	59	3	946	3	ZFPL1	11	64855573	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	43756	64855573	70150943	2917	100774											
C11orf2	738	broad.mit.edu	37	chr11	64876190	64876190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgcagggtctccgggCggccttcctgggctgcctga	14	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64876190C>T	uc001ocr.1	+	5	1287	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	C11orf2_uc001ocs.1_Missense_Mutation_p.A292V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	416					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GGTCTCCGGGCGGCCTTCCTG	0.736													T	64876190	C	T	64876190	3	4	189	1	0	0	0	0	1	0	0	0	1633	768	27	1	1265	1	C11orf2	11	64876190	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	20617	64876190	70130326	2918	100775											
TM7SF2	7108	broad.mit.edu	37	chr11	64880808	64880808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttgtcgccaccctcaccGctttcatcttcagcctcttt	5	17	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64880808G>A	uc001oct.2	+	4	568	c.421G>A	c.(421-423)GCT>ACT	p.A141T	TM7SF2_uc010rny.1_Missense_Mutation_p.A25T|TM7SF2_uc001ocu.2_Missense_Mutation_p.A141T|TM7SF2_uc001ocv.2_Missense_Mutation_p.A162T	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	141	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1						CACCCTCACCGCTTTCATCTT	0.647											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	64880808	G	A	64880808	3	1	189	1	0	0	0	0	1	0	0	0	15971	1087	38	1	435	1	TM7SF2	11	64880808	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4618	64880808	70125708	2919	100776											
SPDYC	387778	broad.mit.edu	37	chr11	64940375	64940375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacctctgaatgtcatcGccctccctcccaaaattatc	4	16	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:64940375G>A	uc010rnz.1	+	6	737	c.737G>A	c.(736-738)CGC>CAC	p.R246H		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	246					cell cycle	nucleus	protein kinase binding				0						GAATGTCATCGCCCTCCCTCC	0.567													A	64940375	G	A	64940375	3	1	189	1	0	0	0	0	1	0	0	0	15027	1087	38	1	759	1	SPDYC	11	64940375	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	59567	64940375	70066141	2920	100777											
TIGD3	220359	broad.mit.edu	37	chr11	65123616	65123616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagctggccgatatcAtgggccaggacttcgtgccc	13	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65123616A>G	uc001odo.3	+	2	500	c.337A>G	c.(337-339)ATG>GTG	p.M113V		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	113	H-T-H motif (By similarity).|HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						GGCCGATATCATGGGCCAGGA	0.642													G	65123616	A	G	65123616	3	3	189	1	0	0	0	0	1	0	0	0	15894	217	8	3	339	3	TIGD3	11	65123616	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	183241	65123616	69882900	2921	100778											
SLC25A45	283130	broad.mit.edu	37	chr11	65143909	65143909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaggagatattcgtagCtgaggaaggtgacagcattg	16	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65143909C>T	uc001odp.1	-	6	1258	c.836G>A	c.(835-837)AGC>AAC	p.S279N	SLC25A45_uc009yqi.1_Missense_Mutation_p.S217N|SLC25A45_uc001odq.1_Missense_Mutation_p.S255N|SLC25A45_uc001odr.1_Missense_Mutation_p.S279N|SLC25A45_uc001ods.1_Missense_Mutation_p.S237N|SLC25A45_uc001odt.1_Missense_Mutation_p.S237N	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	279	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						ATATTCGTAGCTGAGGAAGGT	0.617													T	65143909	C	T	65143909	3	4	189	1	0	0	0	0	1	0	0	0	14510	797	28	2	34	2	SLC25A45	11	65143909	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	20293	65143909	69862607	2922	100779											
EHBP1L1	254102	broad.mit.edu	37	chr11	65351025	65351025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagcagagatgaaggTtttagagtctccagagaaca	12	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65351025T>C	uc001oeo.3	+	9	3147	c.2882T>C	c.(2881-2883)GTT>GCT	p.V961A	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	961										central_nervous_system(1)	1						GAGATGAAGGTTTTAGAGTCT	0.552													C	65351025	T	C	65351025	3	2	189	1	0	0	0	0	1	0	0	0	4976	1725	60	3	2916	3	EHBP1L1	11	65351025	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	207116	65351025	69655491	2923	100780											
OVOL1	5017	broad.mit.edu	37	chr11	65562117	65562117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaagtgtcacaacgacGtcaagaggcacctctgcacg	10	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65562117G>A	uc001ofp.2	+	3	743	c.427G>A	c.(427-429)GTC>ATC	p.V143I	OVOL1_uc001ofq.2_Missense_Mutation_p.V81I	NM_004561	NP_004552	O14753	OVOL1_HUMAN	OVO-like 1 binding protein	143					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.17)		TCACAACGACGTCAAGAGGCA	0.582													A	65562117	G	A	65562117	3	1	189	1	0	0	0	0	1	0	0	0	11326	1145	40	1	437	1	OVOL1	11	65562117	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	211092	65562117	69444399	2924	100781											
EFEMP2	30008	broad.mit.edu	37	chr11	65635808	65635808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgcagcggttggtgTccacgcagcggtagccccca	13	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65635808T>C	uc001ofy.3	-	9	1126	c.932A>G	c.(931-933)GAC>GGC	p.D311G	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D311G	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	311	EGF-like 6; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GCGGTTGGTGTCCACGCAGCG	0.602													C	65635808	T	C	65635808	3	2	189	1	0	0	0	0	1	0	0	0	4942	1667	58	3	411	3	EFEMP2	11	65635808	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	73691	65635808	69370708	2925	100782											
CTSW	1521	broad.mit.edu	37	chr11	65650552	65650552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaggaattgcgcagtAcctggccacttatggcccca	10	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65650552A>G	uc001ogc.1	+	8	800	c.758A>G	c.(757-759)TAC>TGC	p.Y253C	CTSW_uc001ogb.1_Missense_Mutation_p.Y253C	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	253					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		ATTGCGCAGTACCTGGCCACT	0.592													G	65650552	A	G	65650552	3	3	189	1	0	0	0	0	1	0	0	0	4042	391	14	3	788	3	CTSW	11	65650552	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14744	65650552	69355964	2926	100783											
SART1	9092	broad.mit.edu	37	chr11	65734962	65734962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcggggacggggtcgccGccgagtgtccgaagtggagg	20	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65734962G>A	uc001ogl.2	+	11	1426	c.1334G>A	c.(1333-1335)CGC>CAC	p.R445H		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	445					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				ovary(1)	1						CGGGGTCGCCGCCGAGTGTCC	0.672													A	65734962	G	A	65734962	3	1	189	1	0	0	0	0	1	0	0	0	13846	1087	38	1	1376	1	SART1	11	65734962	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	84410	65734962	69271554	2927	100784											
SART1	9092	broad.mit.edu	37	chr11	65745360	65745360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacgggccggaaactcaCacccaaggaggtgagcaggg	16	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65745360C>T	uc001ogl.2	+	17	2254	c.2162C>T	c.(2161-2163)ACA>ATA	p.T721I		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	721					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				ovary(1)	1						CGGAAACTCACACCCAAGGAG	0.617													T	65745360	C	T	65745360	3	4	189	1	0	0	0	0	1	0	0	0	13846	478	17	4	2228	4	SART1	11	65745360	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10398	65745360	69261156	2928	100785											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810615	65810616	+	Missense_Mutation	DNP	TC	TC	CT													ggcccgccaggtaggcggcgTcgtcgcgcgggctgcgctca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65810615_65810616TC>CT	uc001ogv.2	-	2	818_819	c.658_659GA>AG	c.(658-660)GAC>AGC	p.D220S	GAL3ST3_uc001ogw.2_Missense_Mutation_p.D220S	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	220	Lumenal (Potential).				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			ovary(1)	1						GTAGGCGGCGTCGTCGCGCGGG	0.668													CT	65810616	TC	CT	65810615	3	2	189	1	0	0	0	0	1	0	0	0	6199	1667	58	3	640	3	GAL3ST3	11	65810615	Missense_Mutation	DNP	TC	TCGA-CG-5721-01A-11D-1600-08	65255	65810615	69195901	2929	100786											
GAL3ST3	89792	broad.mit.edu	37	chr11	65811111	65811111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgcggcggcgagttccGcagaggagggcagctcaagg	21	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65811111G>A	uc001ogv.2	-	2	323	c.163C>T	c.(163-165)CGG>TGG	p.R55W	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R55W	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	55	Lumenal (Potential).				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			ovary(1)	1						GGCGAGTTCCGCAGAGGAGGG	0.652													A	65811111	G	A	65811111	3	1	189	1	0	0	0	0	1	0	0	0	6199	1086	38	1	1136	1	GAL3ST3	11	65811111	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	496	65811111	69195405	2930	100787											
SF3B2	10992	broad.mit.edu	37	chr11	65829239	65829239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttccttggggatgccagTaggaccagtgagtgtcagtt	14	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65829239T>C	uc001ogy.1	+	15	1902	c.1862T>C	c.(1861-1863)GTA>GCA	p.V621A		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	621					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						GGGATGCCAGTAGGACCAGTG	0.542													C	65829239	T	C	65829239	3	2	189	1	0	0	0	0	1	0	0	0	14151	1638	57	3	1920	3	SF3B2	11	65829239	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	18128	65829239	69177277	2931	100788											
SF3B2	10992	broad.mit.edu	37	chr11	65830509	65830509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggtaccatgctggtggCtggggcaaacctccagtgga	15	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:65830509C>T	uc001ogy.1	+	17	2047	c.2007C>T	c.(2005-2007)GGC>GGT	p.G669G		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	669					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						ATGCTGGTGGCTGGGGCAAAC	0.502													T	65830509	C	T	65830509	2	4	189	1	0	0	0	0	0	0	0	1	14151	784	28	2		2	SF3B2	11	65830509	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1270	65830509	69176007	2932	100789											
CD248	57124	broad.mit.edu	37	chr11	66083132	66083132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggcagtgtgggatgcGtggcagagaccaccacaggc	16	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:66083132G>A	uc001ohm.1	-	1	1384	c.1367C>T	c.(1366-1368)ACG>ATG	p.T456M		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	456	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TGTGGGATGCGTGGCAGAGAC	0.662													A	66083132	G	A	66083132	3	1	189	1	0	0	0	0	1	0	0	0	2989	1145	40	1	910	1	CD248	11	66083132	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	252623	66083132	68923384	2933	100790											
ACTN3	89	broad.mit.edu	37	chr11	66330379	66330379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacagccgagactgacaCgactgagcaagttgtagctt	12	9	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:66330379C>T	uc001oio.1	+	21	2519	c.2501C>T	c.(2500-2502)ACG>ATG	p.T834M	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	834					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				0						GAGACTGACACGACTGAGCAA	0.592													T	66330379	C	T	66330379	3	4	189	1	0	0	0	0	1	0	0	0	206	536	19	1	2579	1	ACTN3	11	66330379	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	247247	66330379	68676137	2934	100791											
CTSF	8722	broad.mit.edu	37	chr11	66335072	66335072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttggtgtccactgggCcacagtccttccgcagcagc	11	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:66335072C>T	uc001oip.2	-	3	464	c.374G>A	c.(373-375)GGC>GAC	p.G125D		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	125					proteolysis	lysosome	cysteine-type endopeptidase activity				0						GTCCACTGGGCCACAGTCCTT	0.587													T	66335072	C	T	66335072	3	4	189	1	0	0	0	0	1	0	0	0	4034	739	26	2	1124	2	CTSF	11	66335072	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4693	66335072	68671444	2935	100792											
CCDC87	55231	broad.mit.edu	37	chr11	66358970	66358970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgatcaaaatgtaagTggtcagaagagacatggctc	11	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:66358970T>C	uc001oiq.3	-	1	1585	c.1517A>G	c.(1516-1518)CAC>CGC	p.H506R	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	506										ovary(1)|skin(1)	2						AAAATGTAAGTGGTCAGAAGA	0.458													C	66358970	T	C	66358970	3	2	189	1	0	0	0	0	1	0	0	0	2862	1696	59	3	1036	3	CCDC87	11	66358970	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	23898	66358970	68647546	2936	100793											
RBM14	10432	broad.mit.edu	37	chr11	66392441	66392441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcagctgcttcttcctAcaacacccagggagcagctt	9	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:66392441A>G	uc001oit.2	+	2	1233	c.1094A>G	c.(1093-1095)TAC>TGC	p.Y365C	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	365	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			ovary(2)|central_nervous_system(1)	3						GCTTCTTCCTACAACACCCAG	0.617													G	66392441	A	G	66392441	3	3	189	1	0	0	0	0	1	0	0	0	13115	391	14	3	1100	3	RBM14	11	66392441	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	33471	66392441	68614075	2937	100794											
RBM4	5936	broad.mit.edu	37	chr11	66411167	66411167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtacggagcgctcgatgCctactacaagcgctgccgtg	13	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:66411167C>T	uc009yrj.2	+	3	1147	c.659C>T	c.(658-660)GCC>GTC	p.A220V	RBM4_uc009yrk.2_Missense_Mutation_p.A195V|RBM4_uc001oiw.1_Missense_Mutation_p.A220V|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.A220V|RBM4_uc001oiz.1_Missense_Mutation_p.A220V	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	220	Interaction with TNPO3.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GCGCTCGATGCCTACTACAAG	0.552													T	66411167	C	T	66411167	3	4	189	1	0	0	0	0	1	0	0	0	13134	739	26	2	665	2	RBM4	11	66411167	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	18726	66411167	68595349	2938	100795											
SPTBN2	6712	broad.mit.edu	37	chr11	66468627	66468627	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctaggccctgggtggactcGatgactttggtcttctctct	11	12	3	1	rs139352096		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:66468627G>A	uc001ojd.2	-	16	3015	c.2943C>T	c.(2941-2943)ATC>ATT	p.I981I		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	981	Spectrin 7.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGGTGGACTCGATGACTTTGG	0.647													A	66468627	G	A	66468627	2	1	189	1	0	0	0	0	0	0	0	1	15119	1048	37	1		1	SPTBN2	11	66468627	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	57460	66468627	68537889	2939	100796											
CARNS1	57571	broad.mit.edu	37	chr11	67191326	67191326	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacttttcccggattaccCgagacttgcagggcgaggcc	12	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:67191326C>T	uc009yrp.2	+	9	2190	c.1738C>T	c.(1738-1740)CGA>TGA	p.R580*	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Nonsense_Mutation_p.R719*	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	580	ATP-grasp.|ATP (By similarity).				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CCGGATTACCCGAGACTTGCA	0.632													T	67191326	C	T	67191326	4	4	189	1	0	0	0	0	0	1	0	0	2656	644	23	1	2141	1	CARNS1	11	67191326	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	722699	67191326	67815190	2940	100797											
CABP4	57010	broad.mit.edu	37	chr11	67223796	67223796	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggccgccttcgaggagtttGacactgaccgtgacggctac	13	12	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:67223796G>A	uc001olo.2	+	3	501	c.424G>A	c.(424-426)GAC>AAC	p.D142N	CABP4_uc001oln.2_Missense_Mutation_p.D37N	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	142	1 (Potential).|EF-hand 1.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGAGGAGTTTGACACTGACCG	0.652													A	67223796	G	A	67223796	3	1	189	1	0	0	0	0	1	0	0	0	2533	1290	45	4	434	4	CABP4	11	67223796	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	32470	67223796	67782720	2941	100798											
PITPNM1	9600	broad.mit.edu	37	chr11	67267701	67267701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgctggccgcagaccgggCctcggtgctcggtttcccgg	16	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:67267701C>A	uc001olx.2	-	5	1021	c.832G>T	c.(832-834)GCC>TCC	p.A278S	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.A278S|PITPNM1_uc001olz.2_Missense_Mutation_p.A278S	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	278					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			lung(2)|central_nervous_system(1)	3						GCAGACCGGGCCTCGGTGCTC	0.697													A	67267701	C	A	67267701	3	1	189	1	0	0	0	0	1	0	0	0	11950	739	26	5	2978	5	PITPNM1	11	67267701	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	43905	67267701	67738815	2942	100799											
TBX10	347853	broad.mit.edu	37	chr11	67399796	67399796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggccttacctttctcCctgtctgtggcacccttcag	9	16	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:67399796C>T	uc001omp.2	-	7	949	c.861G>A	c.(859-861)AGG>AGA	p.R287R	NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	287					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TACCTTTCTCCCTGTCTGTGG	0.622													T	67399796	C	T	67399796	2	4	189	1	0	0	0	0	0	0	0	1	15648	622	22	4		4	TBX10	11	67399796	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	132095	67399796	67606720	2943	100800											
ACY3	91703	broad.mit.edu	37	chr11	67410319	67410319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttaatgaacacggggTacaccgtggactctccctca	9	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:67410319T>C	uc001omq.2	-	8	1007	c.836A>G	c.(835-837)TAC>TGC	p.Y279C		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	279					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	GAACACGGGGTACACCGTGGA	0.582													C	67410319	T	C	67410319	3	2	189	1	0	0	0	0	1	0	0	0	227	1638	57	3	127	3	ACY3	11	67410319	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10523	67410319	67596197	2944	100801											
C11orf24	53838	broad.mit.edu	37	chr11	68029961	68029961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagtggacgtgggcgCggggagtgcaagtgtcatgg	21	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:68029961C>T	uc001onr.3	-	4	944	c.502G>A	c.(502-504)GCG>ACG	p.A168T	C11orf24_uc001ons.2_Missense_Mutation_p.A168T	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	168	Extracellular (Potential).					integral to membrane					0						GACGTGGGCGCGGGGAGTGCA	0.632													T	68029961	C	T	68029961	3	4	189	1	0	0	0	0	1	0	0	0	1635	768	27	1	851	1	C11orf24	11	68029961	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	619642	68029961	66976555	2945	100802											
LRP5	4041	broad.mit.edu	37	chr11	68192577	68192577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctcccgcaggtacctgTacttcaccaacatgcaggac	7	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:68192577T>C	uc001ont.2	+	15	3319	c.3244T>C	c.(3244-3246)TAC>CAC	p.Y1082H	LRP5_uc009ysg.2_Missense_Mutation_p.Y492H	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1082	LDL-receptor class B 18.|Beta-propeller 4.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CAGGTACCTGTACTTCACCAA	0.677													C	68192577	T	C	68192577	3	2	189	1	0	0	0	0	1	0	0	0	8960	1638	57	3	3302	3	LRP5	11	68192577	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	162616	68192577	66813939	2946	100803											
MTL5	9633	broad.mit.edu	37	chr11	68475936	68475936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcgcatgtggcctccAccacctcccaggagatgcat	12	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:68475936A>G	uc001ooc.2	-	10	1507	c.1367T>C	c.(1366-1368)GTG>GCG	p.V456A		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	456					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGTGGCCTCCACCACCTCCCA	0.532													G	68475936	A	G	68475936	3	3	189	1	0	0	0	0	1	0	0	0	9936	159	6	3	163	3	MTL5	11	68475936	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	283359	68475936	66530580	2947	100804											
IGHMBP2	3508	broad.mit.edu	37	chr11	68678967	68678967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagaagcggttttatttGcgctgtctcagaaagaactt	10	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:68678967G>A	uc001ook.1	+	5	709	c.607G>A	c.(607-609)GCG>ACG	p.A203T	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	203					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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTTTTATTTGCGCTGTCTCA	0.522													A	68678967	G	A	68678967	3	1	189	1	0	0	0	0	1	0	0	0	7591	1319	46	2	625	2	IGHMBP2	11	68678967	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	203031	68678967	66327549	2948	100805											
IGHMBP2	3508	broad.mit.edu	37	chr11	68705747	68705747	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctttgccaagtgcacAgccggcgtcacaaccctggg	13	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:68705747A>C	uc001ook.1	+	14	2811	c.2709A>C	c.(2707-2709)ACA>ACC	p.T903T	IGHMBP2_uc001ool.1_Silent_p.T527T	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	903	AN1-type.				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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCAAGTGCACAGCCGGCGTCA	0.642													C	68705747	A	C	68705747	2	2	189	1	0	0	0	0	0	0	0	1	7591	175	7	5		5	IGHMBP2	11	68705747	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26780	68705747	66300769	2949	100806											
TPCN2	219931	broad.mit.edu	37	chr11	68846360	68846360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttctgcccctttcagAttctcaactgcgtcttcatt	5	15	6	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:68846360A>T	uc001oos.2	+	16	1527	c.1411A>T	c.(1411-1413)ATT>TTT	p.I471F	TPCN2_uc001oor.2_Missense_Mutation_p.I386F|TPCN2_uc010rqg.1_Missense_Mutation_p.I471F|TPCN2_uc001oot.2_RNA	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	471	Helical; Name=S2 of repeat II; (Potential).				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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCCTTTCAGATTCTCAACTG	0.592													T	68846360	A	T	68846360	3	4	189	1	0	0	0	0	1	0	0	0	16393	347	12	5	1473	5	TPCN2	11	68846360	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	140613	68846360	66160156	2950	100807											
ORAOV1	220064	broad.mit.edu	37	chr11	69482723	69482723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttatcgtaagtagggtcAtcataagggaatttctggat	11	4	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:69482723A>G	uc001opc.2	-	4	443	c.285T>C	c.(283-285)GAT>GAC	p.D95D	ORAOV1_uc010rqi.1_Silent_p.D95D|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Silent_p.D36D	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	95											0	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)			AAGTAGGGTCATCATAAGGGA	0.413													G	69482723	A	G	69482723	2	3	189	1	0	0	0	0	0	0	0	1	11260	214	8	3		3	ORAOV1	11	69482723	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	636363	69482723	65523793	2951	100808											
ORAOV1	220064	broad.mit.edu	37	chr11	69486577	69486577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaagcaaaaccttggTagcacccgatctgtgaatgt	9	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:69486577T>C	uc001opc.2	-	3	325	c.167A>G	c.(166-168)TAC>TGC	p.Y56C	ORAOV1_uc010rqi.1_Missense_Mutation_p.Y56C|ORAOV1_uc009ysm.2_Intron|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.Y56C	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	56											0	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)			AAAACCTTGGTAGCACCCGAT	0.413													C	69486577	T	C	69486577	3	2	189	1	0	0	0	0	1	0	0	0	11260	1638	57	3	258	3	ORAOV1	11	69486577	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3854	69486577	65519939	2952	100809											
CTTN	2017	broad.mit.edu	37	chr11	70265913	70265913	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaaagtggataagagcgcCgttggctttgagtatcaagg	14	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:70265913C>A	uc001opv.3	+	9	836	c.630C>A	c.(628-630)GCC>GCA	p.A210A	CTTN_uc001opu.2_Silent_p.A210A|CTTN_uc001opw.3_Silent_p.A210A|CTTN_uc010rqm.1_5'Flank|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	210	Cortactin 4.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			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)		ATAAGAGCGCCGTTGGCTTTG	0.448													A	70265913	C	A	70265913	2	1	189	1	0	0	0	0	0	0	0	1	4044	639	23	5		5	CTTN	11	70265913	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	779336	70265913	64740603	2953	100810											
SHANK2	22941	broad.mit.edu	37	chr11	70331959	70331959	+	Frame_Shift_Del	DEL	G	G	-													cgacggcgtcaaagctttcaGggggtggcaggaatgaggca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:70331958_70331958AG>A	uc001oqc.3	-	20	4354	c.4242_4242CT>T	c.(4240-4242)cctfs	p.P1414fs	SHANK2_uc010rqn.2_Frame_Shift_Del_p.P890fs|SHANK2_uc001opz.3_Frame_Shift_Del_p.P885fs|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1101	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor 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)			CAAAGCTTTCAGGGGGTGGCA	0.587													-	70331959	G	-	70331959	7	5	189	1	0	1	0	1	0	0	0	0	14265	1000	35	0	1118	0	SHANK2	11	70331959	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	66046	70331959	64674557	2954	100811											
SHANK2	22941	broad.mit.edu	37	chr11	70333642	70333642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgaacgcaggcttaatcGtcccgtagactcttggagtt	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:70333642G>A	uc001oqc.2	-	21	2834	c.2756C>T	c.(2755-2757)ACG>ATG	p.T919M	SHANK2_uc010rqn.1_Missense_Mutation_p.T331M|SHANK2_uc001opz.2_Missense_Mutation_p.T324M|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	540					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGCTTAATCGTCCCGTAGAC	0.607													A	70333642	G	A	70333642	3	1	189	1	0	0	0	0	1	0	0	0	14265	1145	40	1	2801	1	SHANK2	11	70333642	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1683	70333642	64672874	2955	100812											
NUMA1	4926	broad.mit.edu	37	chr11	71726677	71726677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttcattagccacctgAagttgctgctgcagaatctc	10	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:71726677A>G	uc001orl.1	-	15	2044	c.1872T>C	c.(1870-1872)CTT>CTC	p.L624L	NUMA1_uc009ysw.1_Silent_p.L187L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L624L|NUMA1_uc001orn.2_Silent_p.L187L|NUMA1_uc009ysx.1_Silent_p.L624L|NUMA1_uc001oro.1_Silent_p.L624L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	624	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						TAGCCACCTGAAGTTGCTGCT	0.617			T	RARA	APL								G	71726677	A	G	71726677	2	3	189	1	0	0	0	0	0	0	0	1	10750	233	9	3		3	NUMA1	11	71726677	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1393035	71726677	63279839	2956	100813											
INPPL1	3636	broad.mit.edu	37	chr11	71943988	71943988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccagctcaacctggagCgggagaagcacaaggtcttc	13	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:71943988C>T	uc001osf.2	+	16	2068	c.1921C>T	c.(1921-1923)CGG>TGG	p.R641W	INPPL1_uc001osg.2_Missense_Mutation_p.R399W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	641					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CAACCTGGAGCGGGAGAAGCA	0.562													T	71943988	C	T	71943988	3	4	189	1	0	0	0	0	1	0	0	0	7761	759	27	1	1983	1	INPPL1	11	71943988	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	217311	71943988	63062528	2957	100814											
PDE2A	5138	broad.mit.edu	37	chr11	72288519	72288519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcatccaggaagtccagcGagttgttacttgggaggccg	13	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:72288519G>A	uc010rrc.1	-	31	2978	c.2735C>T	c.(2734-2736)TCG>TTG	p.S912L	PDE2A_uc001oso.2_Missense_Mutation_p.S891L|PDE2A_uc010rra.1_Missense_Mutation_p.S905L|PDE2A_uc001osn.2_Missense_Mutation_p.S656L|PDE2A_uc010rrb.1_Missense_Mutation_p.S903L|PDE2A_uc010rrd.1_Missense_Mutation_p.S797L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	912					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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GAAGTCCAGCGAGTTGTTACT	0.602													A	72288519	G	A	72288519	3	1	189	1	0	0	0	0	1	0	0	0	11636	1059	37	1	94	1	PDE2A	11	72288519	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	344531	72288519	62717997	2958	100815											
PDE2A	5138	broad.mit.edu	37	chr11	72294542	72294542	+	Frame_Shift_Del	DEL	T	T	-													cgatactgagcctcattcacTtttttgtataggagagacta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:72294541_72294541CT>C	uc010rrc.2	-	19	1915	c.1669_1669AG>G	c.(1669-1671)gtgfs	p.V557fs	PDE2A_uc001oso.3_Frame_Shift_Del_p.V536fs|PDE2A_uc010rra.2_Frame_Shift_Del_p.V550fs|PDE2A_uc001osn.3_Frame_Shift_Del_p.V301fs|PDE2A_uc010rrb.2_Frame_Shift_Del_p.V548fs|PDE2A_uc010rrd.2_Frame_Shift_Del_p.V442fs	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	557					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)	GCCTCATTCACTTTTTTGTAT	0.512													-	72294542	T	-	72294542	7	5	189	1	0	1	0	1	0	0	0	0	11636	1606	56	0	1205	0	PDE2A	11	72294542	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	6023	72294542	62711974	2959	100816											
ARAP1	116985	broad.mit.edu	37	chr11	72404518	72404518	+	Splice_Site	DEL	G	G	-													tgtcaccgacacggctggctGgggggtgggactggagtggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:72404517_72404517TG>T	uc001osu.3	-	29	3998	c.3809_splice	c.e29-1	p.A1270_splice	ARAP1_uc001osv.3_Splice_Site_p.A1270_splice|ARAP1_uc001osr.3_Splice_Site_p.A1030_splice|ARAP1_uc001oss.3_Splice_Site_p.A1025_splice|ARAP1_uc009yth.3_Splice_Site_p.A964_splice|ARAP1_uc010rre.2_Splice_Site_p.A1025_splice|BC150585_uc009yti.1_Non-coding_Transcript	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1270					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	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGGCTGGCTGGGGGGTGGG	0.662													-	72404518	G	-	72404518	8	5	189	1	0	1	0	1	0	0	1	0	838	1363	47	0		0	ARAP1	11	72404518	Splice_Site	DEL	G	TCGA-CG-5721-01A-11D-1600-08	109976	72404518	62601998	2960	100817											
ARAP1	116985	broad.mit.edu	37	chr11	72408664	72408664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttcgctccaccagcaccAgcacctggttctcactgtcc	6	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:72408664A>G	uc001osu.2	-	20	2957	c.2768T>C	c.(2767-2769)CTG>CCG	p.L923P	ARAP1_uc001osv.2_Missense_Mutation_p.L923P|ARAP1_uc001osr.2_Missense_Mutation_p.L683P|ARAP1_uc001oss.2_Missense_Mutation_p.L678P|ARAP1_uc009yth.2_Missense_Mutation_p.L617P|ARAP1_uc010rre.1_Missense_Mutation_p.L678P	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	923					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			skin(1)	1						CACCAGCACCAGCACCTGGTT	0.632													G	72408664	A	G	72408664	3	3	189	1	0	0	0	0	1	0	0	0	838	188	7	3	1648	3	ARAP1	11	72408664	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4146	72408664	62597852	2961	100818											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021527	73021527	+	Frame_Shift_Del	DEL	C	C	-													acaagatgatggaagcgatgCcccccctggaagccctgact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:73021526_73021526GC>G	uc001otu.3	+	0	1864	c.1843_1843GC>G	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					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						TGGAAGCGATGCCCCCCCTGG	0.617													-	73021527	C	-	73021527	7	5	189	1	0	1	0	1	0	0	0	0	900	739	26	0	1846	0	ARHGEF17	11	73021527	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	612863	73021527	61984989	2962	100819											
PAAF1	80227	broad.mit.edu	37	chr11	73638354	73638354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgggagaagcagatcTacacatgctgtcgagacggt	12	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:73638354T>C	uc001ouk.1	+	12	1160	c.1126T>C	c.(1126-1128)TAC>CAC	p.Y376H	PAAF1_uc001oul.1_Missense_Mutation_p.Y359H|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.Y359H|PAAF1_uc001oun.1_RNA	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	376	WD 5.				interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					GAAGCAGATCTACACATGCTG	0.458													C	73638354	T	C	73638354	3	2	189	1	0	0	0	0	1	0	0	0	11362	1522	53	3	1172	3	PAAF1	11	73638354	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	616827	73638354	61368162	2963	100820											
UCP3	7352	broad.mit.edu	37	chr11	73716934	73716934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaggtcaccgccatggCtcctgtggtgcagccggcca	14	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:73716934C>T	uc001our.2	-	4	737	c.382G>A	c.(382-384)GCC>ACC	p.A128T	UCP3_uc001ous.2_Missense_Mutation_p.A128T	NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	128	Solcar 2.|Helical; Name=3; (Potential).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)					ACCGCCATGGCTCCTGTGGTG	0.607													T	73716934	C	T	73716934	3	4	189	1	0	0	0	0	1	0	0	0	16929	797	28	2	576	2	UCP3	11	73716934	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	78580	73716934	61289582	2964	100821											
C2CD3	26005	broad.mit.edu	37	chr11	73824826	73824826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagtgtgtctcttactTccatctgtaattttactgga	6	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:73824826T>C	uc001ouu.2	-	11	2069	c.1842A>G	c.(1840-1842)GGA>GGG	p.G614G	C2CD3_uc001ouv.2_Silent_p.G614G	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	614						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTCTCTTACTTCCATCTGTAA	0.363													C	73824826	T	C	73824826	2	2	189	1	0	0	0	0	0	0	0	1	2154	1797	62	3		3	C2CD3	11	73824826	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	107892	73824826	61181690	2965	100822											
XRRA1	143570	broad.mit.edu	37	chr11	74554950	74554950	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgcaagcgaatgaagatgtCatccagaagttgggctctag	12	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:74554950C>A	uc009yub.2	-	18	2406	c.2074G>T	c.(2074-2076)GAC>TAC	p.D692Y	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Missense_Mutation_p.D315Y|XRRA1_uc001ovo.2_Missense_Mutation_p.D300Y|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.D417Y|XRRA1_uc001ovr.2_Missense_Mutation_p.D315Y|XRRA1_uc001ovs.1_3'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	692					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						ATGAAGATGTCATCCAGAAGT	0.557													A	74554950	C	A	74554950	3	1	189	1	0	0	0	0	1	0	0	0	17458	826	29	5	312	5	XRRA1	11	74554950	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	730124	74554950	60451566	2966	100823											
SLCO2B1	11309	broad.mit.edu	37	chr11	74911354	74911354	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgcagccatctggtggTgcccttcctgctcctggtca	11	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:74911354T>C	uc001owb.2	+	11	2072	c.1685T>C	c.(1684-1686)GTG>GCG	p.V562A	SLCO2B1_uc010rrq.1_Missense_Mutation_p.V307A|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V418A|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V446A|SLCO2B1_uc001owc.2_Missense_Mutation_p.V335A|SLCO2B1_uc001owd.2_Missense_Mutation_p.V540A	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	562	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	CATCTGGTGGTGCCCTTCCTG	0.632													C	74911354	T	C	74911354	3	2	189	1	0	0	0	0	1	0	0	0	14727	1696	59	3	1727	3	SLCO2B1	11	74911354	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	356404	74911354	60095162	2967	100824											
ACER3	55331	broad.mit.edu	37	chr11	76730809	76730809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttacctgagatataggCcaaaagtgaaggtaagtcca	9	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:76730809C>T	uc009yum.1	+	10	843	c.739C>T	c.(739-741)CCA>TCA	p.P247S	ACER3_uc001oxu.2_RNA|ACER3_uc009yun.1_Missense_Mutation_p.P205S|ACER3_uc009yuo.1_Missense_Mutation_p.P152S|ACER3_uc010rsh.1_Missense_Mutation_p.P210S|ACER3_uc010rsi.1_Missense_Mutation_p.P152S|ACER3_uc010rsj.1_Missense_Mutation_p.P152S	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	phytoceramidase, alkaline	247					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				0						GAGATATAGGCCAAAAGTGAA	0.403													T	76730809	C	T	76730809	3	4	189	1	0	0	0	0	1	0	0	0	140	739	26	2	777	2	ACER3	11	76730809	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1819455	76730809	58275707	2968	100825											
KCTD21	283219	broad.mit.edu	37	chr11	77884849	77884849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattaatcgaataatcttaTtgttcataaaatccagagca	5	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:77884849T>C	uc001ozb.2	-	2	827	c.752A>G	c.(751-753)AAT>AGT	p.N251S		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	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;1.46e-24)			AATAATCTTATTGTTCATAAA	0.478													C	77884849	T	C	77884849	3	2	189	1	0	0	0	0	1	0	0	0	8109	1493	52	3	34	3	KCTD21	11	77884849	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1154040	77884849	57121667	2969	100826											
USP35	57558	broad.mit.edu	37	chr11	77907363	77907363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggggctggttcggcgCgtgctggaggcggcgcggca	21	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:77907363C>T	uc009yva.1	+	2	318	c.72C>T	c.(70-72)CGC>CGT	p.R24R	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	24					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	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)			TGGTTCGGCGCGTGCTGGAGG	0.726													T	77907363	C	T	77907363	2	4	189	1	0	0	0	0	0	0	0	1	17063	755	27	1		1	USP35	11	77907363	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	22514	77907363	57099153	2970	100827											
ODZ4	26011	broad.mit.edu	37	chr11	78369544	78369544	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtcaccttctgaaggTcctggtttcacaaagtaatg	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:78369544T>C	uc001ozl.3	-	34	8332	c.7869A>G	c.(7867-7869)GGA>GGG	p.G2623G	ODZ4_uc001ozk.3_Silent_p.G848G|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2623	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CTTCTGAAGGTCCTGGTTTCA	0.547													C	78369544	T	C	78369544	2	2	189	1	0	0	0	0	0	0	0	1	10837	1654	58	3		3	ODZ4	11	78369544	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	462181	78369544	56636972	2971	100828											
ODZ4	26011	broad.mit.edu	37	chr11	78383286	78383286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctggtcgtacagaatcCgaagggtgaacttgcggtgg	15	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:78383286C>T	uc001ozl.3	-	31	6048	c.5585G>A	c.(5584-5586)CGG>CAG	p.R1862Q	ODZ4_uc001ozk.3_Missense_Mutation_p.R87Q|ODZ4_uc009yvb.1_Missense_Mutation_p.R446Q	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1862	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GTACAGAATCCGAAGGGTGAA	0.557													T	78383286	C	T	78383286	3	4	189	1	0	0	0	0	1	0	0	0	10837	652	23	1	2740	1	ODZ4	11	78383286	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	13742	78383286	56623230	2972	100829											
PCF11	51585	broad.mit.edu	37	chr11	82877219	82877219	+	Frame_Shift_Del	DEL	A	A	-													agagaagagaaaaactgcagAaaaaaaggataaagatgagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:82877219delA	uc001ozx.3	+	5	1625	c.1280delA	c.(1279-1281)GAAfs	p.E427fs	PCF11_uc010rsu.1_Frame_Shift_Del_p.E427fs	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	427	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AAAACTGCAGAAAAAAAGGAT	0.348													-	82877219	A	-	82877219	7	5	189	1	0	1	0	1	0	0	0	0	11573	246	9	0	1298	0	PCF11	11	82877219	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	4493933	82877219	52129297	2973	100830											
DLG2	1740	broad.mit.edu	37	chr11	83641391	83641391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcatctcagagtcaggTagcaggcctaggtggtagtg	15	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:83641391T>C	uc001paj.2	-	10	1464	c.1161A>G	c.(1159-1161)CTA>CTG	p.L387L	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Silent_p.L354L|DLG2_uc010rsz.1_Silent_p.L387L|DLG2_uc010rta.1_Silent_p.L387L|DLG2_uc001pak.2_Silent_p.L492L|DLG2_uc010rtb.1_Silent_p.L354L|DLG2_uc001pal.1_Silent_p.L387L|DLG2_uc001pam.1_Silent_p.L426L	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	387						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAGAGTCAGGTAGCAGGCCTA	0.512													C	83641391	T	C	83641391	2	2	189	1	0	0	0	0	0	0	0	1	4555	1625	57	3		3	DLG2	11	83641391	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	764172	83641391	51365125	2974	100831											
DLG2	1740	broad.mit.edu	37	chr11	83810087	83810087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgaatcccaggccagaatTcccctatagaaacaaaaagc	6	12	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:83810087T>A	uc001paj.2	-	5	616	c.313A>T	c.(313-315)AAT>TAT	p.N105Y	DLG2_uc001pai.2_Missense_Mutation_p.N54Y|DLG2_uc010rsy.1_Missense_Mutation_p.N72Y|DLG2_uc010rsz.1_Missense_Mutation_p.N105Y|DLG2_uc010rta.1_Missense_Mutation_p.N105Y|DLG2_uc001pak.2_Missense_Mutation_p.N210Y|DLG2_uc010rtb.1_Missense_Mutation_p.N72Y|DLG2_uc001pal.1_Missense_Mutation_p.N105Y|DLG2_uc001pam.1_Missense_Mutation_p.N144Y	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	105	PDZ 1.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGCCAGAATTCCCCTATAGA	0.418													A	83810087	T	A	83810087	3	1	189	1	0	0	0	0	1	0	0	0	4555	1783	62	5	2425	5	DLG2	11	83810087	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	168696	83810087	51196429	2975	100832											
PRSS23	11098	broad.mit.edu	37	chr11	86519334	86519334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccatgcccgagcagAtgaaatttcagtggatccgg	11	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:86519334A>G	uc001pcb.2	+	2	865	c.649A>G	c.(649-651)ATG>GTG	p.M217V	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.M185V	NM_007173	NP_009104	O95084	PRS23_HUMAN	protease, serine, 23 precursor	217					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCGAGCAGATGAAATTTCA	0.522													G	86519334	A	G	86519334	3	3	189	1	0	0	0	0	1	0	0	0	12620	333	12	3	651	3	PRSS23	11	86519334	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2709247	86519334	48487182	2976	100833											
TMEM135	65084	broad.mit.edu	37	chr11	87029214	87029214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagcagggaaggtTccctattttcctcatgcaga	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:87029214T>C	uc001pch.2	+	13	1136	c.1113T>C	c.(1111-1113)GTT>GTC	p.V371V	TMEM135_uc010rtt.1_Silent_p.V232V|TMEM135_uc001pci.2_Silent_p.V349V	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	371						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGGGAAGGTTCCCTATTTTC	0.343													C	87029214	T	C	87029214	2	2	189	1	0	0	0	0	0	0	0	1	16048	1770	62	3		3	TMEM135	11	87029214	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	509880	87029214	47977302	2977	100834											
GRM5	2915	broad.mit.edu	37	chr11	88337911	88337911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagagtctccattctcatCgaataggatcgtatctccag	9	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:88337911C>T	uc001pcq.2	-	4	1569	c.1369G>A	c.(1369-1371)GAT>AAT	p.D457N	GRM5_uc009yvm.2_Missense_Mutation_p.D457N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	457	Extracellular (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCATTCTCATCGAATAGGATC	0.433													T	88337911	C	T	88337911	3	4	189	1	0	0	0	0	1	0	0	0	6800	884	31	1	2293	1	GRM5	11	88337911	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1308697	88337911	46668605	2978	100835											
NOX4	50507	broad.mit.edu	37	chr11	89224368	89224368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatcctaccaggcagaggTgtttaaccccttcgttggcg	11	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:89224368T>C	uc001pct.2	-	1	286	c.47A>G	c.(46-48)CAC>CGC	p.H16R	NOX4_uc009yvr.2_5'Flank|NOX4_uc001pcu.2_5'UTR|NOX4_uc001pcw.2_Missense_Mutation_p.H16R|NOX4_uc001pcx.2_Missense_Mutation_p.H16R|NOX4_uc001pcv.2_Missense_Mutation_p.H16R|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_5'UTR|NOX4_uc009yvp.2_Missense_Mutation_p.H16R|NOX4_uc010rtv.1_Intron|NOX4_uc009yvq.2_Intron|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	16	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CAGGCAGAGGTGTTTAACCCC	0.642													C	89224368	T	C	89224368	3	2	189	1	0	0	0	0	1	0	0	0	10558	1696	59	3	1761	3	NOX4	11	89224368	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	886457	89224368	45782148	2979	100836											
NAALAD2	10003	broad.mit.edu	37	chr11	89880585	89880585	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagtggaagaaatttggActagattcagccaagttggt	11	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:89880585A>G	uc001pdf.3	+	3	391	c.282A>G	c.(280-282)GGA>GGG	p.G94G	NAALAD2_uc009yvx.2_Silent_p.G94G|NAALAD2_uc009yvy.2_Silent_p.G94G|NAALAD2_uc001pdd.2_Silent_p.G94G|NAALAD2_uc001pde.2_Silent_p.G94G	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	94	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGAAATTTGGACTAGATTCAG	0.373													G	89880585	A	G	89880585	2	3	189	1	0	0	0	0	0	0	0	1	10128	262	10	3		3	NAALAD2	11	89880585	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	656217	89880585	45125931	2980	100837											
CHORDC1	26973	broad.mit.edu	37	chr11	89947184	89947184	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtaactgtataaagtatAccttggtctttttattgctt	6	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:89947184A>G	uc001pdg.2	-	4	739	c.329_splice	c.e4+1	p.S110_splice	CHORDC1_uc009yvz.2_Splice_Site_p.S91_splice	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing						chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TATAAAGTATACCTTGGTCTT	0.353													G	89947184	A	G	89947184	5	3	189	1	0	0	0	0	0	0	1	0	3365	405	14	3	699	3	CHORDC1	11	89947184	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	66599	89947184	45059332	2981	100838											
FAT3	120114	broad.mit.edu	37	chr11	92088049	92088049	+	Frame_Shift_Del	DEL	T	T	-													ttcagttgtcactcttaaagTttttttagatgatgtcaatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:92088048_92088048GT>G	uc001pdj.4	+	0	2787	c.2770_2770GT>G	c.(2770-2772)gttfs	p.V924fs		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	924	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D923Y(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTCTTAAAGTTTTTTTAGA	0.443										TCGA Ovarian(4;0.039)			-	92088049	T	-	92088049	7	5	189	1	0	1	0	1	0	0	0	0	5691	1725	60	0	2773	0	FAT3	11	92088049	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2140865	92088049	42918467	2982	100839											
FAT3	120114	broad.mit.edu	37	chr11	92495039	92495039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgactgtgacagatggTggtccctctccaaaacagtc	11	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:92495039T>C	uc001pdj.3	+	4	3704	c.3687T>C	c.(3685-3687)GGT>GGC	p.G1229G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1229	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAGATGGTGGTCCCTCTC	0.423										TCGA Ovarian(4;0.039)			C	92495039	T	C	92495039	2	2	189	1	0	0	0	0	0	0	0	1	5691	1683	59	3		3	FAT3	11	92495039	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	406990	92495039	42511477	2983	100840											
FAT3	120114	broad.mit.edu	37	chr11	92531033	92531033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgtttaagatcgaaccGgtcctaggcatcatcaccat	7	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:92531033G>A	uc001pdj.3	+	9	4871	c.4854G>A	c.(4852-4854)CCG>CCA	p.P1618P		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1618	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATCGAACCGGTCCTAGGCA	0.423										TCGA Ovarian(4;0.039)			A	92531033	G	A	92531033	2	1	189	1	0	0	0	0	0	0	0	1	5691	1103	39	1		1	FAT3	11	92531033	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	35994	92531033	42475483	2984	100841											
FAT3	120114	broad.mit.edu	37	chr11	92532943	92532943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttacatctgcttacaAgctgacaataagagccagcg	9	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:92532943A>G	uc001pdj.3	+	9	6781	c.6764A>G	c.(6763-6765)AAG>AGG	p.K2255R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2255	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGCTTACAAGCTGACAATA	0.428										TCGA Ovarian(4;0.039)			G	92532943	A	G	92532943	3	3	189	1	0	0	0	0	1	0	0	0	5691	72	3	3	6798	3	FAT3	11	92532943	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1910	92532943	42473573	2985	100842											
FAT3	120114	broad.mit.edu	37	chr11	92533399	92533399	+	Frame_Shift_Del	DEL	C	C	-													gtcatatgtgagtgaattagCcccccggggccattttgtaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:92533398_92533398GC>G	uc001pdj.4	+	8	7236	c.7219_7219GC>G	c.(7219-7221)gccfs	p.A2407fs		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2407	Cadherin 22.				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)				GAGTGAATTAGCCCCCCGGGG	0.438										TCGA Ovarian(4;0.039)			-	92533399	C	-	92533399	7	5	189	1	0	1	0	1	0	0	0	0	5691	739	26	0	7254	0	FAT3	11	92533399	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	456	92533399	42473117	2986	100843											
FAT3	120114	broad.mit.edu	37	chr11	92538325	92538325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaactgcaggaggaaAccctcgaggaaggtttgctc	11	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:92538325A>G	uc001pdj.3	+	10	8920	c.8903A>G	c.(8902-8904)AAC>AGC	p.N2968S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2968	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGGAGGAAACCCTCGAGGA	0.438										TCGA Ovarian(4;0.039)			G	92538325	A	G	92538325	3	3	189	1	0	0	0	0	1	0	0	0	5691	43	2	3	8941	3	FAT3	11	92538325	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4926	92538325	42468191	2987	100844											
SLC36A4	120103	broad.mit.edu	37	chr11	92901114	92901114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttttatacttaccctgAcaacatactggtaaattatc	3	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:92901114A>G	uc001pdn.2	-	7	861	c.764T>C	c.(763-765)GTC>GCC	p.V255A	SLC36A4_uc001pdm.2_Missense_Mutation_p.V120A	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	255					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTTACCCTGACAACATACTG	0.254													G	92901114	A	G	92901114	3	3	189	1	0	0	0	0	1	0	0	0	14596	275	10	3	770	3	SLC36A4	11	92901114	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	362789	92901114	42105402	2988	100845											
TAF1D	79101	broad.mit.edu	37	chr11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-													gctggtacctcctctttttcTtttttttatatctctttttc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:93471452_93471452CT>C	uc001ped.3	-	2	525	c.282_282AG>G	c.(280-282)aagfs	p.K94fs	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCCTCTTTTTCTTTTTTTTAT	0.343													-	93471453	T	-	93471453	7	5	189	1	0	1	0	1	0	0	0	0	15519	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	570339	93471453	41535063	2989	100846											
ENDOD1	23052	broad.mit.edu	37	chr11	94862578	94862578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgtgtacaccatgggCgctattccaattgtttgcaa	8	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:94862578C>T	uc001pfh.2	+	2	1413	c.1338C>T	c.(1336-1338)GGC>GGT	p.G446G		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	446						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ACACCATGGGCGCTATTCCAA	0.532													T	94862578	C	T	94862578	2	4	189	1	0	0	0	0	0	0	0	1	5114	755	27	1		1	ENDOD1	11	94862578	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1391125	94862578	40143938	2990	100847											
SESN3	143686	broad.mit.edu	37	chr11	94911072	94911072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgattttcccaggtatagTcctaaaagaataaaatgtat	6	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:94911072T>C	uc001pfk.1	-	8	1280	c.1058A>G	c.(1057-1059)GAC>GGC	p.D353G	SESN3_uc010rug.1_Missense_Mutation_p.D214G	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	353					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CCAGGTATAGTCCTAAAAGAA	0.333													C	94911072	T	C	94911072	3	2	189	1	0	0	0	0	1	0	0	0	14126	1681	58	3	432	3	SESN3	11	94911072	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	48494	94911072	40095444	2991	100848											
CEP57	9702	broad.mit.edu	37	chr11	95562484	95562484	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaataactaaagttcgaaaaTaccaagcccaggtaactcag	6	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:95562484T>A	uc001pfp.1	+	10	1482	c.1261T>A	c.(1261-1263)TAC>AAC	p.Y421N	CEP57_uc010ruh.1_Missense_Mutation_p.Y412N|CEP57_uc010rui.1_Missense_Mutation_p.Y395N|CEP57_uc009ywn.1_Missense_Mutation_p.Y269N|CEP57_uc001pfq.1_Missense_Mutation_p.Y395N|CEP57_uc001pfr.1_Missense_Mutation_p.Y269N	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	421	Mediates interaction with microtubules (By similarity).|Potential.				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			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTTCGAAAATACCAAGCCCA	0.358									Mosaic_Variegated_Aneuploidy_Syndrome				A	95562484	T	A	95562484	3	1	189	1	0	0	0	0	1	0	0	0	3256	1406	49	5	1299	5	CEP57	11	95562484	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	651412	95562484	39444032	2992	100849											
MAML2	84441	broad.mit.edu	37	chr11	95712489	95712489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatttagtgtttggctcaTttggttcatgggtctcattt	9	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:95712489T>C	uc001pfw.1	-	5	4379	c.3094A>G	c.(3094-3096)ATG>GTG	p.M1032V		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1032					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTTGGCTCATTTGGTTCATG	0.493			T	MECT1|CRTC3	salivary gland mucoepidermoid								C	95712489	T	C	95712489	3	2	189	1	0	0	0	0	1	0	0	0	9206	1493	52	3	380	3	MAML2	11	95712489	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	150005	95712489	39294027	2993	100850											
MAML2	84441	broad.mit.edu	37	chr11	95826382	95826382	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcttactgcaagacagagtCtctcctggctccttctttac	7	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:95826382C>G	uc001pfw.1	-	2	2098	c.813G>C	c.(811-813)GAG>GAC	p.E271D		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	271					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AAGACAGAGTCTCTCCTGGCT	0.483			T	MECT1|CRTC3	salivary gland mucoepidermoid								G	95826382	C	G	95826382	3	3	189	1	0	0	0	0	1	0	0	0	9206	912	32	5	2673	5	MAML2	11	95826382	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	113893	95826382	39180134	2994	100851											
CNTN5	53942	broad.mit.edu	37	chr11	100221600	100221600	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagggtaccatcatattcAggtaagttttgacacagtag	9	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:100221600A>G	uc001pga.2	+	24	3537	c.3198A>G	c.(3196-3198)TCA>TCG	p.S1066S	CNTN5_uc001pgb.2_Silent_p.S992S|CNTN5_uc010ruk.1_Silent_p.S337S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	1066					cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		CATCATATTCAGGTAAGTTTT	0.378													G	100221600	A	G	100221600	2	3	189	1	0	0	0	0	0	0	0	1	3644	202	7	3		3	CNTN5	11	100221600	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4395218	100221600	34784916	2995	100852											
KIAA1377	57562	broad.mit.edu	37	chr11	101815143	101815143	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcggaggaaagcaggTgccttaatttctagaacagt	11	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:101815143T>A	uc001pgm.2	+	3	664	c.394_splice	c.e3+2	p.V132_splice	KIAA1377_uc001pgn.2_Splice_Site_p.V88_splice|KIAA1377_uc009yxa.1_Splice_Site	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562								protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GGAAAGCAGGTGCCTTAATTT	0.343													A	101815143	T	A	101815143	5	1	189	1	0	0	0	0	0	0	1	0	8227	1710	59	5	406	5	KIAA1377	11	101815143	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1593543	101815143	33191373	2996	100853											
MMP10	4319	broad.mit.edu	37	chr11	102650475	102650475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtacttttctaggtatTgctaatggaaaatagaattt	8	3	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:102650475T>C	uc001phg.1	-	2	129	c.107A>G	c.(106-108)CAA>CGA	p.Q36R		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	36					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)		TTCTAGGTATTGCTAATGGAA	0.303													C	102650475	T	C	102650475	3	2	189	1	0	0	0	0	1	0	0	0	9649	1826	63	3	1359	3	MMP10	11	102650475	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	835332	102650475	32356041	2997	100854											
MMP3	4314	broad.mit.edu	37	chr11	102713563	102713563	+	Frame_Shift_Del	DEL	T	T	-													gaacttctgcatttctcggaTttttttaacaacaggaccac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:102713562_102713562AT>A	uc001phj.1	-	1	256	c.191_191AT>T	c.(190-192)atcfs	p.I64fs		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	64					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)	CATTTCTCGGATTTTTTTAAC	0.438													-	102713563	T	-	102713563	7	5	189	1	0	1	0	1	0	0	0	0	9666	1493	52	0	1279	0	MMP3	11	102713563	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	63088	102713563	32292953	2998	100855											
DYNC2H1	79659	broad.mit.edu	37	chr11	103068666	103068666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatttatttccacagatagTttctacgttacatggggagc	8	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:103068666T>C	uc001pho.2	+	48	7857	c.7713T>C	c.(7711-7713)AGT>AGC	p.S2571S	DYNC2H1_uc001phn.1_Silent_p.S2571S|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2571					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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCACAGATAGTTTCTACGTTA	0.363													C	103068666	T	C	103068666	2	2	189	1	0	0	0	0	0	0	0	1	4846	1722	60	3		3	DYNC2H1	11	103068666	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	355103	103068666	31937850	2999	100856											
DDI1	414301	broad.mit.edu	37	chr11	103907841	103907841	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcgtgtagacttcagTggcattgcggtgcctgggac	14	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:103907841T>C	uc001phr.2	+	1	534	c.291T>C	c.(289-291)AGT>AGC	p.S97S	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	97					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		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)		TAGACTTCAGTGGCATTGCGG	0.637													C	103907841	T	C	103907841	2	2	189	1	0	0	0	0	0	0	0	1	4328	1693	59	3		3	DDI1	11	103907841	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	839175	103907841	31098675	3000	100857											
CARD16	114769	broad.mit.edu	37	chr11	104915212	104915212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcccctttcggaataaCggagtcaatcaaagctcggg	11	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:104915212C>T	uc001pip.1	-	2	208	c.181G>A	c.(181-183)GTT>ATT	p.V61I	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.V61I	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	61	CARD.				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						TTCGGAATAACGGAGTCAATC	0.453													T	104915212	C	T	104915212	3	4	189	1	0	0	0	0	1	0	0	0	2647	536	19	1	444	1	CARD16	11	104915212	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1007371	104915212	30091304	3001	100858											
CARD16	114769	broad.mit.edu	37	chr11	104915354	104915354	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacccatggaatggatAaacagctttctcttctcctt	5	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:104915354A>G	uc001pip.1	-	2	66	c.39T>C	c.(37-39)TTT>TTC	p.F13F	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Silent_p.F13F	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	13	CARD.				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						TGGAATGGATAAACAGCTTTC	0.413													G	104915354	A	G	104915354	2	3	189	1	0	0	0	0	0	0	0	1	2647	359	13	3		3	CARD16	11	104915354	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	142	104915354	30091162	3002	100859											
GRIA4	2893	broad.mit.edu	37	chr11	105732822	105732822	+	Frame_Shift_Del	DEL	A	A	-													tgtcagcgctatatgtgtggAaaattttaatgatgtcagct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:105732821_105732821GA>G	uc001pix.2	+	4	1005	c.559_559GA>G	c.(559-561)gaafs	p.E187fs	GRIA4_uc001piu.1_Frame_Shift_Del_p.E187fs|GRIA4_uc001piw.2_Frame_Shift_Del_p.E187fs|GRIA4_uc001piv.3_Frame_Shift_Del_p.E187fs|GRIA4_uc009yxk.1_Frame_Shift_Del_p.E187fs	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	187					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)	TATATGTGTGGAAAATTTTAA	0.353													-	105732822	A	-	105732822	7	5	189	1	0	1	0	1	0	0	0	0	6770	246	9	0	574	0	GRIA4	11	105732822	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	817468	105732822	29273694	3003	100860											
GRIA4	2893	broad.mit.edu	37	chr11	105758275	105758275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaagcatgttaaaggcTaccattatatcattgcaaac	7	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:105758275T>C	uc001pix.2	+	6	1149	c.703T>C	c.(703-705)TAC>CAC	p.Y235H	GRIA4_uc001piu.1_Missense_Mutation_p.Y235H|GRIA4_uc001piw.2_Missense_Mutation_p.Y235H|GRIA4_uc009yxk.1_Missense_Mutation_p.Y235H	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	235	Extracellular (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	TGTTAAAGGCTACCATTATAT	0.254													C	105758275	T	C	105758275	3	2	189	1	0	0	0	0	1	0	0	0	6770	1522	53	3	721	3	GRIA4	11	105758275	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	25453	105758275	29248241	3004	100861											
GRIA4	2893	broad.mit.edu	37	chr11	105776013	105776013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtttgagctgaaaagcAcaggacctagaaaggtgagc	13	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:105776013A>G	uc001pix.2	+	9	1590	c.1144A>G	c.(1144-1146)ACA>GCA	p.T382A	GRIA4_uc001piu.1_Missense_Mutation_p.T382A|GRIA4_uc001piw.2_Missense_Mutation_p.T382A|GRIA4_uc009yxk.1_Missense_Mutation_p.T382A	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	382	Extracellular (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	GCTGAAAAGCACAGGACCTAG	0.393													G	105776013	A	G	105776013	3	3	189	1	0	0	0	0	1	0	0	0	6770	159	6	3	1174	3	GRIA4	11	105776013	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	17738	105776013	29230503	3005	100862											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810451	106810451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctaattctgaggtccGcaggaacttgggaggttccc	13	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:106810451G>A	uc001pjg.1	-	4	1331	c.941C>T	c.(940-942)GCG>GTG	p.A314V	GUCY1A2_uc010rvo.1_Missense_Mutation_p.A314V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.A314V	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	314					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		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)		TCTGAGGTCCGCAGGAACTTG	0.448													A	106810451	G	A	106810451	3	1	189	1	0	0	0	0	1	0	0	0	6893	1087	38	1	1277	1	GUCY1A2	11	106810451	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1034438	106810451	28196065	3006	100863											
CWF19L2	143884	broad.mit.edu	37	chr11	107299652	107299652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagtactggtttccgAtggcttttgatttgaatgtt	9	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:107299652A>G	uc010rvp.1	-	8	1336	c.1306T>C	c.(1306-1308)TCG>CCG	p.S436P	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	436							catalytic activity				0		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)		CTGGTTTCCGATGGCTTTTGA	0.403													G	107299652	A	G	107299652	3	3	189	1	0	0	0	0	1	0	0	0	4072	333	12	3	1422	3	CWF19L2	11	107299652	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	489201	107299652	27706864	3007	100864											
ALKBH8	91801	broad.mit.edu	37	chr11	107431569	107431571	+	In_Frame_Del	DEL	CTT	CTT	-													ttaatctgtttccttaagaaCttcttctcagttttactgag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:107431568_107431570ACTT>A	uc010rvr.2	-	1	125_127	c.50_52AAGT>T	c.(49-54)aagttc>aTtc	p.17_18KF>I	ALKBH8_uc009yxp.3_In_Frame_Del_p.17_18KF>I|ALKBH8_uc001pjl.3_Non-coding_Transcript	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA.	17					response to DNA damage stimulus	cytosol|nucleus	RNA binding|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|tRNA (uracil) methyltransferase activity			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)		TTCCTTAAGAACTTCTTCTCAGT	0.36													-	107431571	CTT	-	107431569	7	5	189	1	0	1	0	1	0	0	0	0	533	564	20	0	1987	0	ALKBH8	11	107431569	In_Frame_Del	DEL	CTT	TCGA-CG-5721-01A-11D-1600-08	131917	107431569	27574947	3008	100865											
ELMOD1	55531	broad.mit.edu	37	chr11	107535915	107535915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcggaaggtttaatcAacatgtagttgcccacgccg	10	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:107535915A>G	uc010rvs.1	+	12	1401	c.997A>G	c.(997-999)AAC>GAC	p.N333D	ELMOD1_uc001pjm.2_Missense_Mutation_p.N325D|ELMOD1_uc010rvt.1_Missense_Mutation_p.N327D	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	333					phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGGTTTAATCAACATGTAGTT	0.493													G	107535915	A	G	107535915	3	3	189	1	0	0	0	0	1	0	0	0	5068	130	5	3	1039	3	ELMOD1	11	107535915	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	104346	107535915	27470601	3009	100866											
CUL5	8065	broad.mit.edu	37	chr11	107965548	107965548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctctatagctgattcagTtaatataaaaattctgaatg	5	6	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:107965548T>C	uc001pjv.2	+	15	2244	c.1577T>C	c.(1576-1578)GTT>GCT	p.V526A	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	526					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			ovary(1)	1		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)		GCTGATTCAGTTAATATAAAA	0.333													C	107965548	T	C	107965548	3	2	189	1	0	0	0	0	1	0	0	0	4059	1725	60	3	1635	3	CUL5	11	107965548	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	429633	107965548	27040968	3010	100867											
ACAT1	38	broad.mit.edu	37	chr11	108017014	108017014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggttgtactagcaaacaTtaaaatgttggagattgatc	9	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:108017014T>C	uc001pjy.2	+	11	1167	c.1091T>C	c.(1090-1092)ATT>ACT	p.I364T		NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	364					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|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;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CTAGCAAACATTAAAATGTTG	0.333													C	108017014	T	C	108017014	3	2	189	1	0	0	0	0	1	0	0	0	121	1493	52	3	1133	3	ACAT1	11	108017014	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	51466	108017014	26989502	3011	100868											
ATM	472	broad.mit.edu	37	chr11	108159816	108159816	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaaaagcattttagaaattCtttccaaaagccctgtaagt	5	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:108159816C>T	uc001pkb.1	+	28	4607	c.4222C>T	c.(4222-4224)CTT>TTT	p.L1408F	ATM_uc009yxr.1_Missense_Mutation_p.L1408F|ATM_uc001pkd.3_Missense_Mutation_p.L60F|ATM_uc001pke.1_Missense_Mutation_p.L60F|ATM_uc010rvw.1_Missense_Mutation_p.L60F|ATM_uc001pkf.2_Missense_Mutation_p.L60F	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1408					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		TTTAGAAATTCTTTCCAAAAG	0.303			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)			T	108159816	C	T	108159816	3	4	189	1	0	0	0	0	1	0	0	0	1109	913	32	4	4328	4	ATM	11	108159816	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	142802	108159816	26846700	3012	100869											
ATM	472	broad.mit.edu	37	chr11	108202676	108202676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggccttagcaaatgcaaAcagagatgaatttctgacta	8	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:108202676A>G	uc001pkb.1	+	52	8085	c.7700A>G	c.(7699-7701)AAC>AGC	p.N2567S	ATM_uc009yxr.1_Missense_Mutation_p.N2567S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.N1219S|ATM_uc001pkg.1_Missense_Mutation_p.N924S	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2567					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		GCAAATGCAAACAGAGATGAA	0.358			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)			G	108202676	A	G	108202676	3	3	189	1	0	0	0	0	1	0	0	0	1109	43	2	3	7902	3	ATM	11	108202676	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	42860	108202676	26803840	3013	100870											
ATM	472	broad.mit.edu	37	chr11	108236086	108236086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcaacaaagtagctgaaCgtgtcttaatgagactacaa	8	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:108236086C>T	uc001pkb.1	+	63	9407	c.9022C>T	c.(9022-9024)CGT>TGT	p.R3008C	ATM_uc009yxr.1_Missense_Mutation_p.R3008C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1660C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3008			R -> C (in AT, T-prolymphocytic leukemia and mantle cell lymphoma).|R -> H (in B-cell chronic lymphocytic leukemia).		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	p.R3008C(4)|p.R3008H(4)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		AGTAGCTGAACGTGTCTTAAT	0.413			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)			T	108236086	C	T	108236086	3	4	189	1	0	0	0	0	1	0	0	0	1109	536	19	1	9268	1	ATM	11	108236086	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	33410	108236086	26770430	3014	100871											
EXPH5	23086	broad.mit.edu	37	chr11	108381751	108381751	+	Frame_Shift_Del	DEL	T	T	-													agaaagtgttttattagtcaTtttttggcagttggttccaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:108381750_108381750AT>A	uc001pkk.3	-	5	4595	c.4484_4484AT>T	c.(4483-4485)atgfs	p.M1495fs	EXPH5_uc010rvz.2_Frame_Shift_Del_p.M1339fs|EXPH5_uc010rvy.2_Frame_Shift_Del_p.M1307fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1495					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)		TTTATTAGTCATTTTTTGGCA	0.473													-	108381751	T	-	108381751	7	5	189	1	0	1	0	1	0	0	0	0	5322	1493	52	0	1490	0	EXPH5	11	108381751	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	145665	108381751	26624765	3015	100872											
EXPH5	23086	broad.mit.edu	37	chr11	108382343	108382343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtgtagaataattctgTttgtctttttctaaagcgtt	7	6	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:108382343T>C	uc001pkk.2	-	6	4002	c.3891A>G	c.(3889-3891)AAA>AAG	p.K1297K	EXPH5_uc010rvy.1_Silent_p.K1109K|EXPH5_uc010rvz.1_Silent_p.K1141K|EXPH5_uc010rwa.1_Silent_p.K1221K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1297					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		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)		AATAATTCTGTTTGTCTTTTT	0.373													C	108382343	T	C	108382343	2	2	189	1	0	0	0	0	0	0	0	1	5322	1722	60	3		3	EXPH5	11	108382343	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	592	108382343	26624173	3016	100873											
EXPH5	23086	broad.mit.edu	37	chr11	108389088	108389088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttccagaggtgaattgtAtatttttgcctgctaatttt	7	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:108389088A>G	uc001pkk.2	-	5	616	c.505T>C	c.(505-507)TAC>CAC	p.Y169H	EXPH5_uc010rvy.1_5'UTR|EXPH5_uc010rvz.1_Missense_Mutation_p.Y13H|EXPH5_uc010rwa.1_Missense_Mutation_p.Y93H	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	169					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		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)		GGTGAATTGTATATTTTTGCC	0.443													G	108389088	A	G	108389088	3	3	189	1	0	0	0	0	1	0	0	0	5322	449	16	3	5472	3	EXPH5	11	108389088	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6745	108389088	26617428	3017	100874											
C11orf88	399949	broad.mit.edu	37	chr11	111385566	111385567	+	Frame_Shift_Ins	INS	-	-	C													aagagtcccaggaaatgtgcINScccccgggattactggtatt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:111385565_111385566G>GC	uc009yyd.3	+	0	56_57	c.56_57G>GC	c.(55-57)tgcfs	p.C19fs	BTG4_uc001plj.3_5'Flank|BTG4_uc001plk.3_5'Flank|C11orf88_uc001plo.1_Frame_Shift_Ins_p.C19fs|C11orf88_uc001pln.4_Frame_Shift_Ins_p.C19fs	NM_207430	NP_997313	Q6PI97	CK088_HUMAN	Homo sapiens chromosome 11 open reading frame 88 (C11orf88), transcript variant 1, mRNA.	19										endometrium(1)|large_intestine(3)|lung(2)	6						CAGGAAATGTGCCCCCCGGGAT	0.584											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	111385567	-	C	111385566	7	5	189	1	0	1	1	0	0	0	0	0	1670	747	26	0	59	0	C11orf88	11	111385566	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	2996478	111385566	23620950	3018	100875											
PPP2R1B	5519	broad.mit.edu	37	chr11	111612842	111612842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgacctaacttctgtagtActggcttcacttctccctgt	6	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:111612842A>G	uc001plx.1	-	14	1808	c.1724T>C	c.(1723-1725)GTA>GCA	p.V575A	PPP2R1B_uc001plw.1_Missense_Mutation_p.V575A|PPP2R1B_uc010rwi.1_Missense_Mutation_p.V511A|PPP2R1B_uc010rwj.1_Missense_Mutation_p.V414A|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V530A|PPP2R1B_uc010rwl.1_Missense_Mutation_p.V448A	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	575	HEAT 15.						protein binding				0		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)		CTTCTGTAGTACTGGCTTCAC	0.383													G	111612842	A	G	111612842	3	3	189	1	0	0	0	0	1	0	0	0	12383	391	14	3	312	3	PPP2R1B	11	111612842	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	227276	111612842	23393674	3019	100876											
PPP2R1B	5519	broad.mit.edu	37	chr11	111625257	111625257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgattcataattatgGtctctctatcttcaatgggc	7	7	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:111625257G>C	uc001plx.1	-	8	1079	c.995C>G	c.(994-996)ACC>AGC	p.T332S	PPP2R1B_uc001plw.1_Missense_Mutation_p.T332S|PPP2R1B_uc010rwi.1_Missense_Mutation_p.T268S|PPP2R1B_uc010rwj.1_Missense_Mutation_p.T171S|PPP2R1B_uc010rwk.1_Missense_Mutation_p.T332S|PPP2R1B_uc010rwl.1_Missense_Mutation_p.T205S	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	332	HEAT 8.						protein binding				0		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)		CATAATTATGGTCTCTCTATC	0.313													C	111625257	G	C	111625257	3	2	189	1	0	0	0	0	1	0	0	0	12383	1261	44	5	1065	5	PPP2R1B	11	111625257	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	12415	111625257	23381259	3020	100877											
C11orf57	55216	broad.mit.edu	37	chr11	111953431	111953431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaacaaccacataaacGcaagaaaaaatccaggaaaa	7	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:111953431G>A	uc001pmr.3	+	6	1295	c.614G>A	c.(613-615)CGC>CAC	p.R205H	C11orf57_uc001pmw.3_Missense_Mutation_p.R206H|C11orf57_uc001pmt.3_Missense_Mutation_p.R206H|C11orf57_uc001pmv.3_Missense_Mutation_p.R205H|C11orf57_uc001pms.3_Missense_Mutation_p.R177H	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	205	Lys-rich.									breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CCACATAAACGCAAGAAAAAA	0.408													A	111953431	G	A	111953431	3	1	189	1	0	0	0	0	1	0	0	0	1650	1087	38	1	635	1	C11orf57	11	111953431	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	328174	111953431	23053085	3021	100878											
USP28	57646	broad.mit.edu	37	chr11	113672318	113672318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatgcaggggatgatcAgttcattcatcacattaatg	11	6	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:113672318A>G	uc001poh.2	-	24	2978	c.2945T>C	c.(2944-2946)CTG>CCG	p.L982P	USP28_uc001pog.2_Missense_Mutation_p.L658P|USP28_uc010rwy.1_Missense_Mutation_p.L825P|USP28_uc001poi.2_Missense_Mutation_p.L305P	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	982					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			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		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)		GGGGATGATCAGTTCATTCAT	0.408													G	113672318	A	G	113672318	3	3	189	1	0	0	0	0	1	0	0	0	17055	188	7	3	296	3	USP28	11	113672318	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1718887	113672318	21334198	3022	100879											
USP28	57646	broad.mit.edu	37	chr11	113684655	113684655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaatagtctgagtagtActtgcaatacaagtctttaa	7	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:113684655A>G	uc001poh.2	-	15	1728	c.1695T>C	c.(1693-1695)AGT>AGC	p.S565S	USP28_uc001pog.2_Silent_p.S273S|USP28_uc010rwy.1_Silent_p.S440S|USP28_uc001poi.2_Intron|USP28_uc001poj.3_Silent_p.S565S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	565					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			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		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)		TCTGAGTAGTACTTGCAATAC	0.358													G	113684655	A	G	113684655	2	3	189	1	0	0	0	0	0	0	0	1	17055	388	14	3		3	USP28	11	113684655	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	12337	113684655	21321861	3023	100880											
USP28	57646	broad.mit.edu	37	chr11	113694409	113694409	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttcgaataagctccttgcTcctgtacatgtacctaagta	6	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:113694409T>A	uc001poh.2	-	12	1234	c.1201A>T	c.(1201-1203)AGC>TGC	p.S401C	USP28_uc001pog.2_Missense_Mutation_p.S109C|USP28_uc010rwy.1_Missense_Mutation_p.S276C|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.S401C	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	401					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			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		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)		AGCTCCTTGCTCCTGTACATG	0.259													A	113694409	T	A	113694409	3	1	189	1	0	0	0	0	1	0	0	0	17055	1551	54	5	2088	5	USP28	11	113694409	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9754	113694409	21312107	3024	100881											
APOA1	335	broad.mit.edu	37	chr11	116708093	116708093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggccaaggtcagcaccGcagctttcatcctgaagggc	12	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:116708093G>A	uc001ppu.1	-	2	90	c.11C>T	c.(10-12)GCG>GTG	p.A4V	APOA1_uc001ppv.1_Missense_Mutation_p.A4V	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	4					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGTCAGCACCGCAGCTTTCAT	0.642													A	116708093	G	A	116708093	3	1	189	1	0	0	0	0	1	0	0	0	780	1087	38	1	804	1	APOA1	11	116708093	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3013684	116708093	18298423	3025	100882											
SIK3	23387	broad.mit.edu	37	chr11	116717117	116717117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctctgtttcttgttacaCgcctgcctgctccatgctga	7	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:116717117C>T	uc001ppy.2	-	23	3823	c.3787G>A	c.(3787-3789)GTG>ATG	p.V1263M	SIK3_uc001ppz.2_Missense_Mutation_p.V1102M|SIK3_uc001pqa.2_Missense_Mutation_p.V1203M|SIK3_uc001ppw.2_Missense_Mutation_p.V620M|SIK3_uc001ppx.2_Missense_Mutation_p.V641M	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1263						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TCTTGTTACACGCCTGCCTGC	0.537													T	116717117	C	T	116717117	3	4	189	1	0	0	0	0	1	0	0	0	14319	536	19	1	8	1	SIK3	11	116717117	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	9024	116717117	18289399	3026	100883											
SIK3	23387	broad.mit.edu	37	chr11	116719861	116719861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtcgctgttctggatcGtgtggtgtctctggagggcc	15	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:116719861G>A	uc001ppy.2	-	21	3512	c.3476C>T	c.(3475-3477)ACG>ATG	p.T1159M	SIK3_uc001ppz.2_Missense_Mutation_p.T998M|SIK3_uc001pqa.2_Missense_Mutation_p.T1099M|SIK3_uc001ppw.2_Missense_Mutation_p.T516M|SIK3_uc001ppx.2_Missense_Mutation_p.T537M	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1159						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GTTCTGGATCGTGTGGTGTCT	0.602													A	116719861	G	A	116719861	3	1	189	1	0	0	0	0	1	0	0	0	14319	1145	40	1	327	1	SIK3	11	116719861	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2744	116719861	18286655	3027	100884											
TAGLN	6876	broad.mit.edu	37	chr11	117073798	117073798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcgagaagaagtatgaCgaggagctggaggagcggct	16	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117073798C>T	uc001pqm.2	+	2	190	c.69C>T	c.(67-69)GAC>GAT	p.D23D	uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Silent_p.D23D|TAGLN_uc001pqo.2_Silent_p.D23D|TAGLN_uc001pqp.2_Silent_p.D23D|uc001pqq.1_5'Flank	NM_003186	NP_003177	Q01995	TAGL_HUMAN	transgelin	23					muscle organ development	cytoplasm	actin binding				0	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;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		AGAAGTATGACGAGGAGCTGG	0.597													T	117073798	C	T	117073798	2	4	189	1	0	0	0	0	0	0	0	1	15535	535	19	1		1	TAGLN	11	117073798	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	353937	117073798	17932718	3028	100885											
PCSK7	9159	broad.mit.edu	37	chr11	117098958	117098958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcaatgtcctggatggTgtgttccactccgtcatcca	12	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117098958T>C	uc001pqr.2	-	4	778	c.577A>G	c.(577-579)ACC>GCC	p.T193A		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	193	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	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)		TCCTGGATGGTGTGTTCCACT	0.592			T	IGH@	MLCLS								C	117098958	T	C	117098958	3	2	189	1	0	0	0	0	1	0	0	0	11605	1696	59	3	1836	3	PCSK7	11	117098958	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	25160	117098958	17907558	3029	100886											
PCSK7	9159	broad.mit.edu	37	chr11	117100293	117100293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtgcccctgaagctctcCgatgcgtccagcattcacca	9	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117100293C>T	uc001pqr.2	-	3	469	c.268G>A	c.(268-270)GGA>AGA	p.G90R		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	90					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	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)		TGAAGCTCTCCGATGCGTCCA	0.657			T	IGH@	MLCLS								T	117100293	C	T	117100293	3	4	189	1	0	0	0	0	1	0	0	0	11605	661	23	1	2149	1	PCSK7	11	117100293	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1335	117100293	17906223	3030	100887											
BACE1	23621	broad.mit.edu	37	chr11	117165972	117165972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgttggggccatgggggaTgcttaccaggtcggtgccca	17	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117165972T>C	uc001pqz.2	-	3	903	c.442A>G	c.(442-444)ATC>GTC	p.I148V	BACE1_uc001pqw.2_Missense_Mutation_p.I148V|BACE1_uc001pqx.2_Intron|BACE1_uc001pqy.2_Intron|BACE1_uc001pra.1_Intron|BACE1_uc010rxg.1_Missense_Mutation_p.I48V|BACE1_uc010rxh.1_Missense_Mutation_p.I48V	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	148	Extracellular (Potential).				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			ovary(1)	1	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)		CCATGGGGGATGCTTACCAGG	0.587													C	117165972	T	C	117165972	3	2	189	1	0	0	0	0	1	0	0	0	1281	1464	51	3	1091	3	BACE1	11	117165972	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	65679	117165972	17840544	3031	100888											
BACE1	23621	broad.mit.edu	37	chr11	117186277	117186277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggggctgcccacggtcaTctccacgtagtagccctgcc	13	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117186277T>C	uc001pqz.2	-	1	696	c.235A>G	c.(235-237)ATG>GTG	p.M79V	BACE1_uc001pqw.2_Missense_Mutation_p.M79V|BACE1_uc001pqx.2_Missense_Mutation_p.M79V|BACE1_uc001pqy.2_Missense_Mutation_p.M79V|BACE1_uc001pra.1_Missense_Mutation_p.M79V	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	79	Extracellular (Potential).				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			ovary(1)	1	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)		CCCACGGTCATCTCCACGTAG	0.667													C	117186277	T	C	117186277	3	2	189	1	0	0	0	0	1	0	0	0	1281	1435	50	3	1306	3	BACE1	11	117186277	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	20305	117186277	17820239	3032	100889											
CEP164	22897	broad.mit.edu	37	chr11	117279701	117279701	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagtgaaagttctgaAtctttttccccgcctcaccg	8	13	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117279701A>T	uc001prc.2	+	29	3852	c.3705A>T	c.(3703-3705)GAA>GAT	p.E1235D	CEP164_uc001prb.2_Missense_Mutation_p.E1238D|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.E668D	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1235					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		AAAGTTCTGAATCTTTTTCCC	0.577													T	117279701	A	T	117279701	3	4	189	1	0	0	0	0	1	0	0	0	3249	98	4	5	3811	5	CEP164	11	117279701	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	93424	117279701	17726815	3033	100890											
DSCAML1	57453	broad.mit.edu	37	chr11	117301513	117301513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcttgggtggtgaggCggtaaagcggcagatgccag	20	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117301513C>T	uc001prh.1	-	32	5793	c.5791G>A	c.(5791-5793)GCC>ACC	p.A1931T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1871	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GGTGGTGAGGCGGTAAAGCGG	0.612													T	117301513	C	T	117301513	3	4	189	1	0	0	0	0	1	0	0	0	4769	768	27	1	558	1	DSCAML1	11	117301513	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21812	117301513	17705003	3034	100891											
DSCAML1	57453	broad.mit.edu	37	chr11	117391895	117391895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtctgggccttgcgggtaGcgaagcactggtaggccccg	17	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:117391895G>A	uc001prh.1	-	6	1345	c.1343C>T	c.(1342-1344)GCT>GTT	p.A448V	DSCAML1_uc001pri.1_Missense_Mutation_p.A252V	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	388	Extracellular (Potential).|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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		CTTGCGGGTAGCGAAGCACTG	0.662													A	117391895	G	A	117391895	3	1	189	1	0	0	0	0	1	0	0	0	4769	971	34	2	5110	2	DSCAML1	11	117391895	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	90382	117391895	17614621	3035	100892											
MPZL2	10205	broad.mit.edu	37	chr11	118133782	118133782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcacccgggaggtaTaaatttccacagctgctata	8	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118133782T>C	uc001psn.2	-	2	230	c.89A>G	c.(88-90)TAT>TGT	p.Y30C	MPZL2_uc001pso.2_Missense_Mutation_p.Y30C|MPZL2_uc001psp.1_Missense_Mutation_p.Y30C	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	30	Extracellular (Potential).|Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	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;3.04e-05)		CCGGGAGGTATAAATTTCCAC	0.468													C	118133782	T	C	118133782	3	2	189	1	0	0	0	0	1	0	0	0	9750	1406	49	3	574	3	MPZL2	11	118133782	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	741887	118133782	16872734	3036	100893											
MLL	4297	broad.mit.edu	37	chr11	118359442	118359442	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgttgcaaattctgTcacgtttgtggaaggcaaca	11	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118359442T>C	uc001pta.2	+	11	4469	c.4446T>C	c.(4444-4446)TGT>TGC	p.C1482C	MLL_uc001ptb.2_Silent_p.C1482C|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1482	PHD-type 2.|PHD-type 1.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GCAAATTCTGTCACGTTTGTG	0.358			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								C	118359442	T	C	118359442	2	2	189	1	0	0	0	0	0	0	0	1	9620	1673	58	3		3	MLL	11	118359442	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	225660	118359442	16647074	3037	100894											
MLL	4297	broad.mit.edu	37	chr11	118362626	118362626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctcggactaccagccatTtgctacgctaccggcaggta	9	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118362626T>C	uc001pta.2	+	15	5001	c.4978T>C	c.(4978-4980)TTG>CTG	p.L1660L	MLL_uc001ptb.2_Silent_p.L1663L|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1660					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TACCAGCCATTTGCTACGCTA	0.458			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								C	118362626	T	C	118362626	2	2	189	1	0	0	0	0	0	0	0	1	9620	1838	64	3		3	MLL	11	118362626	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3184	118362626	16643890	3038	100895											
MLL	4297	broad.mit.edu	37	chr11	118374582	118374582	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcaactgggaagaagCgaggcaagagatcagctgaa	14	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118374582C>T	uc001pta.2	+	27	7989	c.7966C>T	c.(7966-7968)CGA>TGA	p.R2656*	MLL_uc001ptb.2_Nonsense_Mutation_p.R2659*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2656					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGGGAAGAAGCGAGGCAAGAG	0.448			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118374582	C	T	118374582	4	4	189	1	0	0	0	0	0	1	0	0	9620	760	27	1	8072	1	MLL	11	118374582	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	11956	118374582	16631934	3039	100896											
ARCN1	372	broad.mit.edu	37	chr11	118454616	118454616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagacagggcaaaaaagcAccaggatttggcggatttgg	15	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118454616A>G	uc001ptq.2	+	4	701	c.540A>G	c.(538-540)GCA>GCG	p.A180A	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Silent_p.A92A|ARCN1_uc009zag.2_Silent_p.A221A	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	180					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	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)		GCAAAAAAGCACCAGGATTTG	0.483													G	118454616	A	G	118454616	2	3	189	1	0	0	0	0	0	0	0	1	842	146	6	3		3	ARCN1	11	118454616	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	80034	118454616	16551900	3040	100897											
PHLDB1	23187	broad.mit.edu	37	chr11	118514810	118514810	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgctctactcacccagaaTggcacgggcagccttcctcg	10	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118514810T>C	uc001ptr.1	+	16	3392	c.3039T>C	c.(3037-3039)AAT>AAC	p.N1013N	PHLDB1_uc001pts.2_Silent_p.N1013N|PHLDB1_uc001ptt.2_Silent_p.N966N|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.N813N|PHLDB1_uc001ptw.1_Silent_p.N368N|PHLDB1_uc009zai.1_Silent_p.N49N|PHLDB1_uc001ptx.1_Silent_p.N49N|PHLDB1_uc010ryi.1_Silent_p.N156N|PHLDB1_uc010ryj.1_Silent_p.N151N	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1013											0	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)		TCACCCAGAATGGCACGGGCA	0.622													C	118514810	T	C	118514810	2	2	189	1	0	0	0	0	0	0	0	1	11851	1461	51	3		3	PHLDB1	11	118514810	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	60194	118514810	16491706	3041	100898											
TREH	11181	broad.mit.edu	37	chr11	118529408	118529408	+	Frame_Shift_Del	DEL	C	C	-													cctgaacttcatattctcctCccccaccgggctgtccaccg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118529408delC	uc001pty.1	-	14	1625	c.1580delG	c.(1579-1581)GGAfs	p.G527fs	TREH_uc009zaj.1_Frame_Shift_Del_p.G496fs|TREH_uc001ptz.1_Frame_Shift_Del_p.G404fs	NM_007180	NP_009111	O43280	TREA_HUMAN	trehalase precursor	527					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			pancreas(1)	1	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)		ATATTCTCCTCCCCCACCGGG	0.612													-	118529408	C	-	118529408	7	5	189	1	0	1	0	1	0	0	0	0	16466	855	30	0	178	0	TREH	11	118529408	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	14598	118529408	16477108	3042	100899											
DDX6	1656	broad.mit.edu	37	chr11	118630686	118630686	+	Frame_Shift_Del	DEL	T	T	-													aatatagtaaaatctgcctgTttttaggtagcgtgagaata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118630685_118630685GT>G	uc001pub.2	-	7	1171	c.810_810AC>C	c.(808-810)aacfs	p.N270fs	DDX6_uc001pua.2_5'Flank|DDX6_uc001puc.2_Frame_Shift_Del_p.N270fs	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	270	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		AAATCTGCCTGTTTTTAGGTA	0.378			T	IGH@	B-NHL								-	118630686	T	-	118630686	7	5	189	1	0	1	0	1	0	0	0	0	4377	1725	60	0	666	0	DDX6	11	118630686	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	101278	118630686	16375830	3043	100900											
BCL9L	283149	broad.mit.edu	37	chr11	118769574	118769574	+	Frame_Shift_Del	DEL	G	G	-													agattagggggctgagccttGgggggctggttctcgctctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118769573_118769573TG>T	uc001pug.3	-	7	5016	c.4051_4051CA>A	c.(4051-4053)aagfs	p.K1351fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.K1346fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1351	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)		GGCTGAGCCTTGGGGGGCTGG	0.617													-	118769574	G	-	118769574	7	5	189	1	0	1	0	1	0	0	0	0	1382	1335	47	0	453	0	BCL9L	11	118769574	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	138888	118769574	16236942	3044	100901											
BCL9L	283149	broad.mit.edu	37	chr11	118772844	118772844	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgcagcccaatctgTtcctctttccgccgtttctc	5	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118772844T>C	uc001pug.2	-	6	2573	c.1608A>G	c.(1606-1608)GAA>GAG	p.E536E	BCL9L_uc009zal.2_Silent_p.E531E	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	536					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			ovary(1)|pancreas(1)	2	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)		GCCCAATCTGTTCCTCTTTCC	0.627													C	118772844	T	C	118772844	2	2	189	1	0	0	0	0	0	0	0	1	1382	1722	60	3		3	BCL9L	11	118772844	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3270	118772844	16233672	3045	100902											
BCL9L	283149	broad.mit.edu	37	chr11	118772974	118772974	+	Frame_Shift_Del	DEL	G	G	-													gctgccccatgtccccacccGgggggtgcccaggcacttca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118772973_118772973CG>C	uc001pug.3	-	5	2444	c.1479_1479CG>G	c.(1477-1479)ccgfs	p.P493fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.P488fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	493	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)		TGTCCCCACCCGGGGGGTGCC	0.622													-	118772974	G	-	118772974	7	5	189	1	0	1	0	1	0	0	0	0	1382	1116	39	0	3033	0	BCL9L	11	118772974	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	130	118772974	16233542	3046	100903											
SLC37A4	2542	broad.mit.edu	37	chr11	118895642	118895642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcagccttcttggacactCggcccatcttggtgcggatg	11	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:118895642C>T	uc010rys.1	-	11	2025	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Missense_Mutation_p.R445Q|SLC37A4_uc010ryt.1_Missense_Mutation_p.R350Q|SLC37A4_uc001pus.2_Missense_Mutation_p.R423Q	NM_001164277	NP_001157749	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate	423					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity			large_intestine(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;7.58e-05)		CTTGGACACTCGGCCCATCTT	0.607									Glycogen_Storage_Disease_type_Ib				T	118895642	C	T	118895642	3	4	189	1	0	0	0	0	1	0	0	0	14600	884	31	1	25	1	SLC37A4	11	118895642	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	122668	118895642	16110874	3047	100904											
NLRX1	79671	broad.mit.edu	37	chr11	119044607	119044607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccctgtgccaacttgtgGcccagcgctacacgcccctg	9	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:119044607G>A	uc001pvu.2	+	5	864	c.649G>A	c.(649-651)GCC>ACC	p.A217T	NLRX1_uc010rzc.1_Missense_Mutation_p.A39T|NLRX1_uc001pvv.2_Missense_Mutation_p.A217T|NLRX1_uc001pvw.2_Missense_Mutation_p.A217T|NLRX1_uc001pvx.2_Missense_Mutation_p.A217T	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	217	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	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)		CCAACTTGTGGCCCAGCGCTA	0.632													A	119044607	G	A	119044607	3	1	189	1	0	0	0	0	1	0	0	0	10485	1203	42	2	663	2	NLRX1	11	119044607	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	148965	119044607	15961909	3048	100905											
NLRX1	79671	broad.mit.edu	37	chr11	119045201	119045201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggccctctgccattggcCgtatccccagcaagtacgtg	10	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:119045201C>T	uc001pvu.2	+	6	1104	c.889C>T	c.(889-891)CGT>TGT	p.R297C	NLRX1_uc010rzc.1_Missense_Mutation_p.R119C|NLRX1_uc001pvv.2_Missense_Mutation_p.R297C|NLRX1_uc001pvw.2_Missense_Mutation_p.R297C|NLRX1_uc001pvx.2_Missense_Mutation_p.R297C	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	297	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	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)		TGCCATTGGCCGTATCCCCAG	0.542													T	119045201	C	T	119045201	3	4	189	1	0	0	0	0	1	0	0	0	10485	652	23	1	907	1	NLRX1	11	119045201	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	594	119045201	15961315	3049	100906											
CCDC153	283152	broad.mit.edu	37	chr11	119061043	119061043	+	Frame_Shift_Del	DEL	G	G	-													ctggtggcctcaaagatccaGggggggtgagtccaaactgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:119061042_119061042AG>A	uc010rze.2	-	6	814	c.600_600CT>T	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGA	0.572													-	119061043	G	-	119061043	7	5	189	1	0	1	0	1	0	0	0	0	2787	1000	35	0	37	0	CCDC153	11	119061043	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	15842	119061043	15945473	3050	100907											
PVRL1	5818	broad.mit.edu	37	chr11	119547833	119547833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccagtggtactcagtgGctggggggttagcatcagct	16	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:119547833G>A	uc001pwv.2	-	4	1002	c.830C>T	c.(829-831)GCC>GTC	p.A277V	PVRL1_uc001pwu.1_Missense_Mutation_p.A277V|PVRL1_uc001pww.2_Missense_Mutation_p.A277V	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	277	Extracellular (Potential).|Ig-like C2-type 2.				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				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTACTCAGTGGCTGGGGGGTT	0.567													A	119547833	G	A	119547833	3	1	189	1	0	0	0	0	1	0	0	0	12839	1203	42	2	1181	2	PVRL1	11	119547833	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	486790	119547833	15458683	3051	100908											
POU2F3	25833	broad.mit.edu	37	chr11	120175765	120175765	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccctgggctgccaggAtcctctttagaaccccacct	10	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:120175765A>T	uc001pxc.2	+	7	573	c.471A>T	c.(469-471)GGA>GGT	p.G157G	POU2F3_uc010rzk.1_Silent_p.G111G|POU2F3_uc010rzl.1_Silent_p.G87G|POU2F3_uc001pxe.1_5'Flank	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	157					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		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)		GGCTGCCAGGATCCTCTTTAG	0.507													T	120175765	A	T	120175765	2	4	189	1	0	0	0	0	0	0	0	1	12273	320	12	5		5	POU2F3	11	120175765	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	627932	120175765	14830751	3052	100909											
TECTA	7007	broad.mit.edu	37	chr11	120996338	120996338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgacaactgcacccagtgcGacgctgccactgaagccctc	9	17	0	1	rs150927084		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:120996338G>A	uc010rzo.1	+	7	1531	c.1531G>A	c.(1531-1533)GAC>AAC	p.D511N		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	511	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CACCCAGTGCGACGCTGCCAC	0.622													A	120996338	G	A	120996338	3	1	189	1	0	0	0	0	1	0	0	0	15744	1058	37	1	1557	1	TECTA	11	120996338	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	820573	120996338	14010178	3053	100910											
CRTAM	56253	broad.mit.edu	37	chr11	122722513	122722513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgcttacattacagCgactctgtaagcacaaagga	8	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:122722513C>T	uc001pyj.2	+	3	306	c.306C>T	c.(304-306)AGC>AGT	p.S102S		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	102	Ig-like V-type.|Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TACATTACAGCGACTCTGTAA	0.478													T	122722513	C	T	122722513	2	4	189	1	0	0	0	0	0	0	0	1	3897	767	27	1		1	CRTAM	11	122722513	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1726175	122722513	12284003	3054	100911											
SCN3B	55800	broad.mit.edu	37	chr11	123508962	123508962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatatcatctcgatgagcagCcacaaggtgaggaagaccag	11	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:123508962C>A	uc001pza.1	-	5	923	c.516G>T	c.(514-516)TGG>TGT	p.W172C	SCN3B_uc001pzb.1_Missense_Mutation_p.W172C	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	172	Helical; (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		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)		CGATGAGCAGCCACAAGGTGA	0.433													A	123508962	C	A	123508962	3	1	189	1	0	0	0	0	1	0	0	0	13919	740	26	5	139	5	SCN3B	11	123508962	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	786449	123508962	11497554	3055	100912											
ZNF202	7753	broad.mit.edu	37	chr11	123597538	123597538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcacttgagaaatattagTaccaaatcttctttcattaa	3	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:123597538T>C	uc001pzd.1	-	9	1514	c.1114A>G	c.(1114-1116)ACT>GCT	p.T372A	ZNF202_uc001pzc.1_Missense_Mutation_p.T148A|ZNF202_uc001pze.1_Missense_Mutation_p.T372A|ZNF202_uc001pzf.1_Missense_Mutation_p.T372A	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	372					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			ovary(1)	1		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)		GAAATATTAGTACCAAATCTT	0.438													C	123597538	T	C	123597538	3	2	189	1	0	0	0	0	1	0	0	0	17760	1638	57	3	836	3	ZNF202	11	123597538	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	88576	123597538	11408978	3056	100913											
OR8D2	283160	broad.mit.edu	37	chr11	124189338	124189338	+	Frame_Shift_Del	DEL	A	A	-													tacatgaatgttatagacccAaaaaagatgcccacagccaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:124189337_124189337CA>C	uc010sah.2	-	0	757	c.757_757TG>G	c.(757-759)gggfs	p.G253fs		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	253					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)		GTTATAGACCCAAAAAAGATG	0.428													-	124189338	A	-	124189338	7	5	189	1	0	1	0	1	0	0	0	0	11232	127	5	0	182	0	OR8D2	11	124189338	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	591800	124189338	10817178	3057	100914											
TBRG1	84897	broad.mit.edu	37	chr11	124496881	124496881	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgaatatatgccagcAtgaagtgcccagaccagaag	10	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:124496881A>C	uc001qak.3	+	5	911	c.673A>C	c.(673-675)ATG>CTG	p.M225L	TBRG1_uc001qaj.3_Missense_Mutation_p.M74L|TBRG1_uc001qal.3_Missense_Mutation_p.M1L|TBRG1_uc001qam.3_RNA|TBRG1_uc009zbf.2_RNA|TBRG1_uc009zbg.2_Missense_Mutation_p.M74L|TBRG1_uc009zbh.2_Missense_Mutation_p.M1L	NM_032811	NP_116200	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	225	FYR N-terminal.				cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding				0	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;0.0218)		ATATGCCAGCATGAAGTGCCC	0.443													C	124496881	A	C	124496881	3	2	189	1	0	0	0	0	1	0	0	0	15645	217	8	5	691	5	TBRG1	11	124496881	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	307543	124496881	10509635	3058	100915											
ROBO4	54538	broad.mit.edu	37	chr11	124757724	124757724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtggggaactgttgGcatgctgcagctctgcaaag	16	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:124757724G>A	uc001qbg.2	-	13	2101	c.1961C>T	c.(1960-1962)GCC>GTC	p.A654V	ROBO4_uc010sas.1_Missense_Mutation_p.A509V|ROBO4_uc001qbh.2_Missense_Mutation_p.A544V|ROBO4_uc001qbi.2_Missense_Mutation_p.A212V|ROBO4_uc010sat.1_Missense_Mutation_p.A212V	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	654					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGAACTGTTGGCATGCTGCAG	0.552													A	124757724	G	A	124757724	3	1	189	1	0	0	0	0	1	0	0	0	13516	1203	42	2	1086	2	ROBO4	11	124757724	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	260843	124757724	10248792	3059	100916											
TMEM218	219854	broad.mit.edu	37	chr11	124967560	124967562	+	In_Frame_Del	DEL	AAG	AAG	-													gaacataatggattaaaaccAagaagaggcctccaaggaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:124967559_124967561CAAG>C	uc001qbs.3	-	3	941_943	c.289_291CTTG>G	c.(289-291)ttg>G	p.L97del	TMEM218_uc010sax.2_In_Frame_Del_p.L97del|TMEM218_uc010saw.2_In_Frame_Del_p.L132del|TMEM218_uc001qbt.3_In_Frame_Del_p.L132del|TMEM218_uc010say.2_Non-coding_Transcript	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	Homo sapiens transmembrane protein 218 (TMEM218), mRNA.	97						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						GGATTAAAACCAAGAAGAGGCCT	0.443													-	124967562	AAG	-	124967560	7	5	189	1	0	1	0	1	0	0	0	0	16138	131	5	0	61	0	TMEM218	11	124967560	In_Frame_Del	DEL	AAG	TCGA-CG-5721-01A-11D-1600-08	209836	124967560	10038956	3060	100917											
PKNOX2	63876	broad.mit.edu	37	chr11	125298986	125298986	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaagtaaacaactggTgagtttgcatcacctgcatg	9	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:125298986T>C	uc001qbu.2	+	11	1327	c.1013_splice	c.e11+2	p.W338_splice	PKNOX2_uc010saz.1_Splice_Site_p.W309_splice|PKNOX2_uc010sba.1_Splice_Site_p.W309_splice|PKNOX2_uc010sbb.1_Splice_Site_p.W274_splice|PKNOX2_uc001qbv.2_Splice_Site_p.W103_splice	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2							nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		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)		AAACAACTGGTGAGTTTGCAT	0.577											OREG0021475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	125298986	T	C	125298986	5	2	189	1	0	0	0	0	0	0	1	0	11983	1710	59	3	1045	3	PKNOX2	11	125298986	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	331426	125298986	9707530	3061	100918											
STT3A	3703	broad.mit.edu	37	chr11	125476321	125476321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtactgtttactgcctgggCactatactttctatgcagat	8	9	1	1	rs1051714		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:125476321C>T	uc001qcd.2	+	8	851	c.741C>T	c.(739-741)GGC>GGT	p.G247G	STT3A_uc009zbm.2_Silent_p.G247G|STT3A_uc001qce.2_Silent_p.G247G|STT3A_uc010sbg.1_Silent_p.G155G|STT3A_uc009zbn.2_Silent_p.G21G	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	247	Helical; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACTGCCTGGGCACTATACTTT	0.488													T	125476321	C	T	125476321	2	4	189	1	0	0	0	0	0	0	0	1	15332	697	25	2		2	STT3A	11	125476321	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	177335	125476321	9530195	3062	100919											
CDON	50937	broad.mit.edu	37	chr11	125880279	125880279	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggtaccatgttcattTgcagcttcgcagatgtattt	10	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:125880279T>C	uc009zbw.2	-	8	1637	c.1509A>G	c.(1507-1509)GCA>GCG	p.A503A	CDON_uc001qdc.3_Silent_p.A503A|CDON_uc001qdd.3_RNA	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	503	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	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)		CATGTTCATTTGCAGCTTCGC	0.433													C	125880279	T	C	125880279	2	2	189	1	0	0	0	0	0	0	0	1	3170	1799	63	3		3	CDON	11	125880279	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	403958	125880279	9126237	3063	100920											
FAM118B	79607	broad.mit.edu	37	chr11	126110831	126110831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttactggatgctgccatTgattttgatcttttagaaga	9	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:126110831T>C	uc001qdf.2	+	4	414	c.231T>C	c.(229-231)ATT>ATC	p.I77I	FAM118B_uc009zca.2_Silent_p.I81I|FAM118B_uc001qdg.2_Silent_p.I77I	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	77											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		ATGCTGCCATTGATTTTGATC	0.458													C	126110831	T	C	126110831	2	2	189	1	0	0	0	0	0	0	0	1	5412	1800	63	3		3	FAM118B	11	126110831	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	230552	126110831	8895685	3064	100921											
FOXRED1	55572	broad.mit.edu	37	chr11	126141443	126141443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccgagcactcggatgTggtgatcgtgggaggtgggg	19	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:126141443T>C	uc001qdi.2	+	2	244	c.197T>C	c.(196-198)GTG>GCG	p.V66A	SRPR_uc001qdh.2_5'Flank|SRPR_uc010sbm.1_5'Flank|FOXRED1_uc010sbn.1_Intron|FOXRED1_uc010sbo.1_Intron|FOXRED1_uc010sbp.1_Intron|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Missense_Mutation_p.V52A|FOXRED1_uc001qdk.2_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	66	Helical; (Potential).					integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CACTCGGATGTGGTGATCGTG	0.552													C	126141443	T	C	126141443	3	2	189	1	0	0	0	0	1	0	0	0	6033	1696	59	3	203	3	FOXRED1	11	126141443	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	30612	126141443	8865073	3065	100922											
KIRREL3	84623	broad.mit.edu	37	chr11	126343330	126343330	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcaggctgatcacaggGccccccaggatgacggggtc	15	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:126343330G>C	uc001qea.2	-	5	826	c.465C>G	c.(463-465)GGC>GGG	p.G155G	KIRREL3_uc001qeb.2_Silent_p.G155G|KIRREL3_uc001qec.1_Silent_p.G155G	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	155	Ig-like C2-type 2.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	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)		TGATCACAGGGCCCCCCAGGA	0.667													C	126343330	G	C	126343330	2	2	189	1	0	0	0	0	0	0	0	1	8326	1190	42	5		5	KIRREL3	11	126343330	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	201887	126343330	8663186	3066	100923											
TP53AIP1	63970	broad.mit.edu	37	chr11	128805564	128805564	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtggcctgtctctaagcacTgtggctccaggaaggaaagg	14	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:128805564T>A	uc001qey.2	-	4	507	c.297A>T	c.(295-297)ACA>ACT	p.T99T	TP53AIP1_uc001qex.2_3'UTR			Q9HCN2	TPIP1_HUMAN	RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;	99					apoptosis	mitochondrion				lung(1)	1						CTCTAAGCACTGTGGCTCCAG	0.403													A	128805564	T	A	128805564	2	1	189	1	0	0	0	0	0	0	0	1	16379	1595	55	5		5	TP53AIP1	11	128805564	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2462234	128805564	6200952	3067	100924											
TMEM45B	120224	broad.mit.edu	37	chr11	129724713	129724713	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagtattcatggaaggTaattttgtggaacggatgga	15	3	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:129724713T>C	uc001qfe.1	+	3	446	c.385_splice	c.e3+2	p.G129_splice	TMEM45B_uc001qff.1_Splice_Site_p.G129_splice	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B							integral to membrane					0	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;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TCATGGAAGGTAATTTTGTGG	0.438													C	129724713	T	C	129724713	5	2	189	1	0	0	0	0	0	0	1	0	16167	1652	57	3	393	3	TMEM45B	11	129724713	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	919149	129724713	5281803	3068	100925											
ST14	6768	broad.mit.edu	37	chr11	130079714	130079714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaagagaacactggggTataggggccggggccaccca	15	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:130079714T>C	uc001qfw.2	+	19	2757	c.2564T>C	c.(2563-2565)GTA>GCA	p.V855A		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	855	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	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)	AACACTGGGGTATAGGGGCCG	0.632													C	130079714	T	C	130079714	3	2	189	1	0	0	0	0	1	0	0	0	15210	1638	57	3	2638	3	ST14	11	130079714	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	355001	130079714	4926802	3069	100926											
ADAMTS15	170689	broad.mit.edu	37	chr11	130331434	130331434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcatggctgatgtgggTaccatgtgtgaccccaagag	15	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:130331434T>C	uc010scd.1	+	2	1008	c.1008T>C	c.(1006-1008)GGT>GGC	p.G336G		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	336	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	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)		CTGATGTGGGTACCATGTGTG	0.592													C	130331434	T	C	130331434	2	2	189	1	0	0	0	0	0	0	0	1	260	1625	57	3		3	ADAMTS15	11	130331434	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	251720	130331434	4675082	3070	100927											
IGSF9B	22997	broad.mit.edu	37	chr11	133806051	133806051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcctgggagatgttgaCggtgatgttctcaggagggg	17	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:133806051C>T	uc001qgx.3	-	6	949	c.718G>A	c.(718-720)GTC>ATC	p.V240I	IGSF9B_uc001qgy.1_Missense_Mutation_p.V82I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	240	Extracellular (Potential).|Ig-like 3.					integral to membrane|plasma membrane					0	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)		GAGATGTTGACGGTGATGTTC	0.617													T	133806051	C	T	133806051	3	4	189	1	0	0	0	0	1	0	0	0	7606	536	19	1	3387	1	IGSF9B	11	133806051	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3474617	133806051	1200465	3071	100928											
VPS26B	112936	broad.mit.edu	37	chr11	134114906	134114906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggacatcaacaagaagTtctctgtgcgctattacctc	9	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:134114906T>C	uc001qhe.2	+	5	1252	c.796T>C	c.(796-798)TTC>CTC	p.F266L		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	266					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CAACAAGAAGTTCTCTGTGCG	0.617											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	134114906	T	C	134114906	3	2	189	1	0	0	0	0	1	0	0	0	17195	1725	60	3	814	3	VPS26B	11	134114906	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	308855	134114906	891610	3072	100929											
B3GAT1	27087	broad.mit.edu	37	chr11	134253954	134253954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggatggtgggcagcgtgtCggaccatggcgggggccgcg	22	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr11:134253954C>T	uc001qhq.2	-	4	502	c.241G>A	c.(241-243)GAC>AAC	p.D81N	B3GAT1_uc001qhr.2_Missense_Mutation_p.D81N|B3GAT1_uc010scv.1_Missense_Mutation_p.D94N	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	81	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	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)		GGCAGCGTGTCGGACCATGGC	0.701													T	134253954	C	T	134253954	3	4	189	1	0	0	0	0	1	0	0	0	1253	884	31	1	775	1	B3GAT1	11	134253954	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	139048	134253954	752562	3073	100930											
KDM5A	5927	broad.mit.edu	37	chr12	416989	416989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttaggaagaggaacacaGctgttatggaaccagtcttt	11	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:416989G>A	uc001qif.1	-	23	3924	c.3561C>T	c.(3559-3561)AGC>AGT	p.S1187S	KDM5A_uc001qie.1_Silent_p.S1187S	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1187	PHD-type 2.				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			skin(2)|ovary(1)	3						GAGGAACACAGCTGTTATGGA	0.448			T 	NUP98	AML								A	416989	G	A	416989	2	1	189	1	0	0	0	0	0	0	0	1	8133	962	34	2		2	KDM5A	12	416989	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08		416989	133434906	3074	100931											
B4GALNT3	283358	broad.mit.edu	37	chr12	667191	667191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcctgcagctaccagtaCgtgaagctaagtggaaactt	9	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:667191C>T	uc001qii.1	+	17	2544	c.2544C>T	c.(2542-2544)TAC>TAT	p.Y848Y	B4GALNT3_uc001qik.1_Silent_p.Y397Y	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	848	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	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)			GCTACCAGTACGTGAAGCTAA	0.552													T	667191	C	T	667191	2	4	189	1	0	0	0	0	0	0	0	1	1268	547	19	1		1	B4GALNT3	12	667191	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	250202	667191	133184704	3075	100932											
WNK1	65125	broad.mit.edu	37	chr12	1005855	1005855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgacaatgagtcagatatcGaagatgaagacttaaagtta	10	5	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:1005855G>A	uc001qio.3	+	24	6709	c.6202G>A	c.(6202-6204)GAA>AAA	p.E2068K	WNK1_uc001qip.3_Missense_Mutation_p.E1820K|WNK1_uc001qir.3_Missense_Mutation_p.E1241K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2068					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	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)			GTCAGATATCGAAGATGAAGA	0.393													A	1005855	G	A	1005855	3	1	189	1	0	0	0	0	1	0	0	0	17374	1059	37	1	7798	1	WNK1	12	1005855	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	338664	1005855	132846040	3076	100933											
RAD52	5893	broad.mit.edu	37	chr12	1023614	1023614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgattaattcttgagtcActcctgcaaggaagtctttc	7	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:1023614A>G	uc001qis.1	-	10	1064	c.950T>C	c.(949-951)GTG>GCG	p.V317A	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.V240A|RAD52_uc001qiu.1_Missense_Mutation_p.V317A|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	317					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	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)			TTCTTGAGTCACTCCTGCAAG	0.473								Homologous_recombination					G	1023614	A	G	1023614	3	3	189	1	0	0	0	0	1	0	0	0	12991	159	6	3	318	3	RAD52	12	1023614	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	17759	1023614	132828281	3077	100934											
RAD52	5893	broad.mit.edu	37	chr12	1034619	1034619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatgtctgatatacctgGcgtggaagcttatttagtga	10	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:1034619G>A	uc001qis.1	-	7	654	c.540C>T	c.(538-540)CGC>CGT	p.R180R	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.R103R|RAD52_uc001qiu.1_Silent_p.R180R|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Silent_p.R180R|RAD52_uc001qix.1_3'UTR	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	180					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	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)			GATATACCTGGCGTGGAAGCT	0.428								Homologous_recombination					A	1034619	G	A	1034619	2	1	189	1	0	0	0	0	0	0	0	1	12991	1190	42	2		2	RAD52	12	1034619	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	11005	1034619	132817276	3078	100935											
ADIPOR2	79602	broad.mit.edu	37	chr12	1882025	1882025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagctctgaggaacatgaAtacagtgatgaagctcctca	10	9	2	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:1882025A>G	uc001qjm.2	+	3	386	c.189A>G	c.(187-189)GAA>GAG	p.E63E	ADIPOR2_uc001qjn.2_Silent_p.E63E	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	63	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AGGAACATGAATACAGTGATG	0.428													G	1882025	A	G	1882025	2	3	189	1	0	0	0	0	0	0	0	1	319	98	4	3		3	ADIPOR2	12	1882025	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	847406	1882025	131969870	3079	100936											
ADIPOR2	79602	broad.mit.edu	37	chr12	1889790	1889790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccactcagagggggtctctCggctcttctctaagtaagta	11	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:1889790C>T	uc001qjm.2	+	5	834	c.637C>T	c.(637-639)CGG>TGG	p.R213W	ADIPOR2_uc001qjn.2_Missense_Mutation_p.R213W	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	213	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GGGGGTCTCTCGGCTCTTCTC	0.433													T	1889790	C	T	1889790	3	4	189	1	0	0	0	0	1	0	0	0	319	875	31	1	651	1	ADIPOR2	12	1889790	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7765	1889790	131962105	3080	100937											
CACNA2D4	93589	broad.mit.edu	37	chr12	1904931	1904931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttactgttgggaatctgCtgcaccacaaataccctgca	9	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:1904931C>T	uc001qjp.2	-	36	3360	c.3129G>A	c.(3127-3129)CAG>CAA	p.Q1043Q	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc001qjo.2_Silent_p.Q186Q|CACNA2D4_uc001qjs.1_Silent_p.Q110Q|CACNA2D4_uc010sdw.1_Silent_p.Q173Q|CACNA2D4_uc009zdr.1_RNA	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	1043	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	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)		TGGGAATCTGCTGCACCACAA	0.542													T	1904931	C	T	1904931	2	4	189	1	0	0	0	0	0	0	0	1	2551	796	28	2		2	CACNA2D4	12	1904931	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	15141	1904931	131946964	3081	100938											
CACNA1C	775	broad.mit.edu	37	chr12	2676928	2676928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctccgtgctcagatgCgtccggctgctgaggatttt	13	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:2676928C>T	uc009zdu.1	+	13	2176	c.1863C>T	c.(1861-1863)TGC>TGT	p.C621C	CACNA1C_uc009zdv.1_Silent_p.C618C|CACNA1C_uc001qkb.2_Silent_p.C621C|CACNA1C_uc001qkc.2_Silent_p.C621C|CACNA1C_uc001qke.2_Silent_p.C621C|CACNA1C_uc001qkf.2_Silent_p.C621C|CACNA1C_uc001qjz.2_Silent_p.C621C|CACNA1C_uc001qkd.2_Silent_p.C621C|CACNA1C_uc001qkg.2_Silent_p.C621C|CACNA1C_uc009zdw.1_Silent_p.C621C|CACNA1C_uc001qkh.2_Silent_p.C621C|CACNA1C_uc001qkl.2_Silent_p.C621C|CACNA1C_uc001qkn.2_Silent_p.C621C|CACNA1C_uc001qko.2_Silent_p.C621C|CACNA1C_uc001qkp.2_Silent_p.C621C|CACNA1C_uc001qkr.2_Silent_p.C621C|CACNA1C_uc001qku.2_Silent_p.C621C|CACNA1C_uc001qkq.2_Silent_p.C621C|CACNA1C_uc001qks.2_Silent_p.C621C|CACNA1C_uc001qkt.2_Silent_p.C621C|CACNA1C_uc001qka.1_Silent_p.C156C|CACNA1C_uc001qki.1_Silent_p.C357C|CACNA1C_uc001qkj.1_Silent_p.C357C|CACNA1C_uc001qkk.1_Silent_p.C357C|CACNA1C_uc001qkm.1_Silent_p.C357C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	621	II.|Helical; Name=S4 of repeat II; (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	TGCTCAGATGCGTCCGGCTGC	0.572													T	2676928	C	T	2676928	2	4	189	1	0	0	0	0	0	0	0	1	2540	776	27	1		1	CACNA1C	12	2676928	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	771997	2676928	131174967	3082	100939											
CACNA1C	775	broad.mit.edu	37	chr12	2716226	2716226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgggagaacagcaagTttgactttgacaatgttctg	12	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:2716226T>C	uc009zdu.1	+	27	3659	c.3346T>C	c.(3346-3348)TTT>CTT	p.F1116L	CACNA1C_uc009zdv.1_Missense_Mutation_p.F1093L|CACNA1C_uc001qkb.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkc.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qke.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkf.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qjz.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkd.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkg.2_Missense_Mutation_p.F1096L|CACNA1C_uc009zdw.1_Missense_Mutation_p.F1096L|CACNA1C_uc001qkh.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkl.2_Missense_Mutation_p.F1116L|CACNA1C_uc001qkn.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qko.2_Missense_Mutation_p.F1116L|CACNA1C_uc001qkp.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkr.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qku.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkq.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qks.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qkt.2_Missense_Mutation_p.F1096L|CACNA1C_uc001qka.1_Missense_Mutation_p.F631L|CACNA1C_uc001qki.1_Missense_Mutation_p.F832L|CACNA1C_uc001qkj.1_Missense_Mutation_p.F832L|CACNA1C_uc001qkk.1_Missense_Mutation_p.F832L|CACNA1C_uc001qkm.1_Missense_Mutation_p.F832L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1116	Extracellular (Potential).|III.|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			ovary(10)|central_nervous_system(1)	11			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)	GAACAGCAAGTTTGACTTTGA	0.557													C	2716226	T	C	2716226	3	2	189	1	0	0	0	0	1	0	0	0	2540	1725	60	3	3560	3	CACNA1C	12	2716226	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	39298	2716226	131135669	3083	100940											
FKBP4	2288	broad.mit.edu	37	chr12	2909724	2909724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacaggccttctctgctgCcattgaaagctgtaacaagg	9	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:2909724C>T	uc001qkz.2	+	8	1211	c.1013C>T	c.(1012-1014)GCC>GTC	p.A338V		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	FK506 binding protein 52	338	TPR 2.|Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging				0			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TTCTCTGCTGCCATTGAAAGC	0.527													T	2909724	C	T	2909724	3	4	189	1	0	0	0	0	1	0	0	0	5910	739	26	2	1043	2	FKBP4	12	2909724	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	193498	2909724	130942171	3084	100941											
ITFG2	55846	broad.mit.edu	37	chr12	2926419	2926419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgggagacaccagcGggaaggtgtctgtgtataaa	17	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:2926419G>A	uc001qlb.1	+	2	191	c.127G>A	c.(127-129)GGG>AGG	p.G43R	ITFG2_uc001qla.1_Missense_Mutation_p.G43R|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	43	FG-GAP 1; atypical.										0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGACACCAGCGGGAAGGTGTC	0.502													A	2926419	G	A	2926419	3	1	189	1	0	0	0	0	1	0	0	0	7870	1116	39	1	133	1	ITFG2	12	2926419	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	16695	2926419	130925476	3085	100942											
FOXM1	2305	broad.mit.edu	37	chr12	2983279	2983279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctggtttgggtttgaggCcggagtcctggaggctgagt	18	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:2983279C>T	uc001qlf.2	-	2	631	c.366G>A	c.(364-366)CGG>CGA	p.R122R	FOXM1_uc001qle.2_Silent_p.R122R|FOXM1_uc001qlg.2_Silent_p.R122R|FOXM1_uc009zea.2_Silent_p.R122R|FOXM1_uc009zeb.2_Silent_p.R122R	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	122					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|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 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			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGTTTGAGGCCGGAGTCCTG	0.547													T	2983279	C	T	2983279	2	4	189	1	0	0	0	0	0	0	0	1	6018	726	26	2		2	FOXM1	12	2983279	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	56860	2983279	130868616	3086	100943											
TEAD4	7004	broad.mit.edu	37	chr12	3129841	3129842	+	Missense_Mutation	DNP	CC	CC	TT													ccgccccatcgccctctgcgCccccggcacccccatggcag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:3129841_3129842CC>TT	uc010sej.1	+	9	899_900	c.622_623CC>TT	c.(622-624)CCC>TTC	p.P208F	TEAD4_uc010sek.1_Missense_Mutation_p.P165F|TEAD4_uc001qln.2_Missense_Mutation_p.P80F	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	209					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCCCTCTGCGCCCCCGGCACCC	0.668													TT	3129842	CC	TT	3129841	3	4	189	1	0	0	0	0	1	0	0	0	15738	739	26	2	651	2	TEAD4	12	3129841	Missense_Mutation	DNP	CC	TCGA-CG-5721-01A-11D-1600-08	146562	3129841	130722054	3087	100944											
PRMT8	56341	broad.mit.edu	37	chr12	3649830	3649830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctaagcccgtgcaatGcgtccatcatgtgtccactc	8	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:3649830G>A	uc001qmf.2	+	2	501	c.134G>A	c.(133-135)TGC>TAC	p.C45Y	PRMT8_uc009zed.2_Missense_Mutation_p.C36Y|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	45					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			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCGTGCAATGCGTCCATCAT	0.607													A	3649830	G	A	3649830	3	1	189	1	0	0	0	0	1	0	0	0	12542	1319	46	2	140	2	PRMT8	12	3649830	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	519989	3649830	130202065	3088	100945											
AKAP3	10566	broad.mit.edu	37	chr12	4737718	4737718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctactgaactcccgTtgccaagttgggccctgggg	11	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:4737718T>C	uc001qnb.3	-	4	579	c.350A>G	c.(349-351)AAC>AGC	p.N117S		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	117					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						TGAACTCCCGTTGCCAAGTTG	0.493													C	4737718	T	C	4737718	3	2	189	1	0	0	0	0	1	0	0	0	452	1725	60	3	2219	3	AKAP3	12	4737718	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1087888	4737718	129114177	3089	100946											
GALNT8	26290	broad.mit.edu	37	chr12	4870167	4870167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagattttgccctgttcccGgattgcccacctagagagac	10	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:4870167G>A	uc001qne.1	+	7	1309	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	406	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						CCCTGTTCCCGGATTGCCCAC	0.537													A	4870167	G	A	4870167	3	1	189	1	0	0	0	0	1	0	0	0	6219	1116	39	1	1243	1	GALNT8	12	4870167	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	132449	4870167	128981728	3090	100947											
KCNA1	3736	broad.mit.edu	37	chr12	5020786	5020786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgaggaacgagtactTcttcgaccgcaaccggccca	9	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:5020786T>C	uc001qnh.2	+	2	1347	c.242T>C	c.(241-243)TTC>TCC	p.F81S		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	81					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACGAGTACTTCTTCGACCGC	0.627													C	5020786	T	C	5020786	3	2	189	1	0	0	0	0	1	0	0	0	8001	1783	62	3	244	3	KCNA1	12	5020786	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	150619	5020786	128831109	3091	100948											
KCNA5	3741	broad.mit.edu	37	chr12	5153912	5153912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgttcgcggacgagaTacgcttctaccagctggggg	16	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:5153912T>C	uc001qni.2	+	1	828	c.599T>C	c.(598-600)ATA>ACA	p.I200T		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	200						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GCGGACGAGATACGCTTCTAC	0.637													C	5153912	T	C	5153912	3	2	189	1	0	0	0	0	1	0	0	0	8006	1406	49	3	601	3	KCNA5	12	5153912	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	133126	5153912	128697983	3092	100949											
NTF3	4908	broad.mit.edu	37	chr12	5603650	5603650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgattgcaatggacacCgaactgctgcgacaacagag	12	11	0	2	rs35988749	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:5603650C>T	uc001qnl.3	+	1	353	c.270C>T	c.(268-270)ACC>ACT	p.T90T	NTF3_uc001qnk.3_Silent_p.T103T	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	90					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						CAATGGACACCGAACTGCTGC	0.617													T	5603650	C	T	5603650	2	4	189	1	0	0	0	0	0	0	0	1	10696	639	23	1		1	NTF3	12	5603650	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	449738	5603650	128248245	3093	100950											
CD27	939	broad.mit.edu	37	chr12	6559390	6559390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgctgagtgtgcctgtcGcaatggctggcagtgcaggg	16	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:6559390G>A	uc001qod.2	+	3	531	c.320G>A	c.(319-321)CGC>CAC	p.R107H	LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'UTR|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	tumor necrosis factor receptor superfamily,	107	Extracellular (Potential).|TNFR-Cys 3.				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				0						TGTGCCTGTCGCAATGGCTGG	0.602													A	6559390	G	A	6559390	3	1	189	1	0	0	0	0	1	0	0	0	2990	1087	38	1	330	1	CD27	12	6559390	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	955740	6559390	127292505	3094	100951											
CD27	939	broad.mit.edu	37	chr12	6559772	6559772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaggcagctgcctgccCggactctctctacccactgg	9	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:6559772C>T	uc001qod.2	+	4	725	c.514C>T	c.(514-516)CGG>TGG	p.R172W	LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_RNA|LOC678655_uc009zel.1_RNA|CD27_uc001qoe.2_Missense_Mutation_p.R22W|LOC678655_uc009zem.1_RNA|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	tumor necrosis factor receptor superfamily,	172	Extracellular (Potential).				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				0						GCTGCCTGCCCGGACTCTCTC	0.572													T	6559772	C	T	6559772	3	4	189	1	0	0	0	0	1	0	0	0	2990	643	23	1	528	1	CD27	12	6559772	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	382	6559772	127292123	3095	100952											
CHD4	1108	broad.mit.edu	37	chr12	6707246	6707246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatagtttcggaacatcAcctgacagtgcagctccagc	10	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:6707246A>G	uc001qpo.2	-	12	1870	c.1706T>C	c.(1705-1707)GTG>GCG	p.V569A	CHD4_uc001qpn.2_Missense_Mutation_p.V562A|CHD4_uc001qpp.2_Missense_Mutation_p.V566A	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	569	Chromo 1.				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						TCGGAACATCACCTGACAGTG	0.473													G	6707246	A	G	6707246	3	3	189	1	0	0	0	0	1	0	0	0	3327	159	6	3	4148	3	CHD4	12	6707246	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	147474	6707246	127144649	3096	100953											
ZNF384	171017	broad.mit.edu	37	chr12	6778267	6778267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgtgcgtagacaggTgcacctctagtgaggctgca	13	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:6778267T>C	uc010sfh.1	-	10	1470	c.1262A>G	c.(1261-1263)CAC>CGC	p.H421R	ZNF384_uc001qpz.2_Missense_Mutation_p.H360R|ZNF384_uc001qqa.2_Missense_Mutation_p.H360R|ZNF384_uc001qqb.2_Missense_Mutation_p.H344R|ZNF384_uc001qqc.2_Missense_Mutation_p.H360R|ZNF384_uc001qqd.2_Missense_Mutation_p.H305R|ZNF384_uc001qqe.2_Missense_Mutation_p.H344R	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	421	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						CGTAGACAGGTGCACCTCTAG	0.517			T	EWSR1|TAF15 	ALL								C	6778267	T	C	6778267	3	2	189	1	0	0	0	0	1	0	0	0	17872	1696	59	3	479	3	ZNF384	12	6778267	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	71021	6778267	127073628	3097	100954											
SPSB2	84727	broad.mit.edu	37	chr12	6981956	6981956	+	Frame_Shift_Del	DEL	G	G	-													gctgggcccccaggtcaggaGggggtgcagacagcagctct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:6981955_6981955AG>A	uc001qrl.3	-	1	267	c.111_111CT>T	c.(109-111)cctfs	p.P37fs	SPSB2_uc001qrm.3_Frame_Shift_Del_p.P37fs|RRPL13L_uc009zff.3_5'Flank	NM_001146316	NP_116030	Q99619	SPSB2_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 2 (SPSB2), transcript variant 2, mRNA.	37	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGTCAGGAGGGGGTGCAG	0.657											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	6981956	G	-	6981956	7	5	189	1	0	1	0	1	0	0	0	0	15112	1000	35	0	689	0	SPSB2	12	6981956	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	203689	6981956	126869939	3098	100955											
C12orf57	113246	broad.mit.edu	37	chr12	7053291	7053291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagacgccctatggcgTccgcctcgacccaaccggcg	11	18	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:7053291T>C	uc001qrz.2	+	1	89	c.7T>C	c.(7-9)TCC>CCC	p.S3P	C12orf57_uc009zfj.1_Intron|PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	NM_138425	NP_612434	Q99622	C10_HUMAN	C10 protein	3											0						CCCTATGGCGTCCGCCTCGAC	0.587											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	7053291	T	C	7053291	3	2	189	1	0	0	0	0	1	0	0	0	1701	1667	58	3	9	3	C12orf57	12	7053291	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	71335	7053291	126798604	3099	100956											
PTPN6	5777	broad.mit.edu	37	chr12	7064896	7064896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagagaacaagggcaagaAccgctacaagaacattctcc	9	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:7064896A>G	uc001qsb.2	+	7	1063	c.821A>G	c.(820-822)AAC>AGC	p.N274S	PTPN6_uc001qsa.1_Missense_Mutation_p.N276S|PTPN6_uc010sfr.1_Missense_Mutation_p.N235S|PTPN6_uc009zfl.1_Missense_Mutation_p.N274S|PTPN6_uc010sfs.1_Missense_Mutation_p.N262S	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	274	Tyrosine-protein phosphatase.				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)	1						AAGGGCAAGAACCGCTACAAG	0.587													G	7064896	A	G	7064896	3	3	189	1	0	0	0	0	1	0	0	0	12792	43	2	3	865	3	PTPN6	12	7064896	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11605	7064896	126786999	3100	100957											
PTPN6	5777	broad.mit.edu	37	chr12	7066906	7066906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggggagcatgacacaacCgaatacaaactccgtacctt	9	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:7066906C>T	uc001qsb.2	+	10	1406	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T	PTPN6_uc001qsa.1_Silent_p.T390T|PTPN6_uc010sfr.1_Silent_p.T349T|PTPN6_uc009zfl.1_Silent_p.T388T|PTPN6_uc010sfs.1_Silent_p.T376T	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	388	Tyrosine-protein phosphatase.				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)	1						ATGACACAACCGAATACAAAC	0.592													T	7066906	C	T	7066906	2	4	189	1	0	0	0	0	0	0	0	1	12792	639	23	1		1	PTPN6	12	7066906	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2010	7066906	126784989	3101	100958											
APOBEC1	339	broad.mit.edu	37	chr12	7805264	7805264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaaatctctttctgacGtaaatttttttataaaatta	5	4	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:7805264G>A	uc001qtb.2	-	3	246	c.212C>T	c.(211-213)ACG>ATG	p.T71M	APOBEC1_uc001qtc.2_Missense_Mutation_p.T26M|APOBEC1_uc010sgf.1_Missense_Mutation_p.T71M	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	71					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						TCTTTCTGACGtaaatttttt	0.468													A	7805264	G	A	7805264	3	1	189	1	0	0	0	0	1	0	0	0	787	1145	40	1	510	1	APOBEC1	12	7805264	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	738358	7805264	126046631	3102	100959											
FOXJ2	55810	broad.mit.edu	37	chr12	8196589	8196589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggcaagcaagagcccaCggggaggcgttgcagggagt	19	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:8196589C>T	uc001qtu.2	+	5	1605	c.520C>T	c.(520-522)CGG>TGG	p.R174W	FOXJ2_uc001qtt.1_Missense_Mutation_p.R174W	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	174					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 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			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		CAAGAGCCCACGGGGAGGCGT	0.547													T	8196589	C	T	8196589	3	4	189	1	0	0	0	0	1	0	0	0	6012	527	19	1	534	1	FOXJ2	12	8196589	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	391325	8196589	125655306	3103	100960											
PHC1	1911	broad.mit.edu	37	chr12	9089487	9089487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctcctgaagtgcgagTactgtgggaagtacgccccc	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:9089487T>C	uc001qvd.2	+	12	2560	c.2404T>C	c.(2404-2406)TAC>CAC	p.Y802H	PHC1_uc001qve.2_Missense_Mutation_p.Y802H	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	802	FCS-type.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						GAAGTGCGAGTACTGTGGGAA	0.527													C	9089487	T	C	9089487	3	2	189	1	0	0	0	0	1	0	0	0	11816	1638	57	3	2446	3	PHC1	12	9089487	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	892898	9089487	124762408	3104	100961											
KLRB1	3820	broad.mit.edu	37	chr12	9754153	9754153	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaataatcccagcacagctaAgtttcagggcaaattgatgc	9	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:9754153A>T	uc010sgt.1	-	2	190	c.128T>A	c.(127-129)CTT>CAT	p.L43H		NM_002258	NP_002249	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B,	43	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						AGCACAGCTAAGTTTCAGGGC	0.338													T	9754153	A	T	9754153	3	4	189	1	0	0	0	0	1	0	0	0	8414	72	3	5	568	5	KLRB1	12	9754153	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	664666	9754153	124097742	3105	100962											
CSDA	8531	broad.mit.edu	37	chr12	10854626	10854626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaattgtagggacgccggTatccacggcgaacagacggc	15	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:10854626T>C	uc001qyt.2	-	8	1229	c.986A>G	c.(985-987)TAC>TGC	p.Y329C	CSDA_uc001qyu.2_Missense_Mutation_p.Y260C	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	329					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					GGGACGCCGGTATCCACGGCG	0.582													C	10854626	T	C	10854626	3	2	189	1	0	0	0	0	1	0	0	0	3927	1638	57	3	140	3	CSDA	12	10854626	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1100473	10854626	122997269	3106	100963											
GPRC5A	9052	broad.mit.edu	37	chr12	13065434	13065434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcccacgcttggccgagCccttacaaagactatgaagt	11	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:13065434C>T	uc001rba.2	+	4	1685	c.1035C>T	c.(1033-1035)AGC>AGT	p.S345S	uc001rbb.3_5'Flank	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5,	345	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CTTGGCCGAGCCCTTACAAAG	0.537													T	13065434	C	T	13065434	2	4	189	1	0	0	0	0	0	0	0	1	6724	738	26	2		2	GPRC5A	12	13065434	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2210808	13065434	120786461	3107	100964											
KIAA1467	57613	broad.mit.edu	37	chr12	13215855	13215855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttgtggtactgccagaCttggatgaagacggtgttcg	14	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:13215855C>T	uc001rbi.2	+	5	821	c.798C>T	c.(796-798)GAC>GAT	p.D266D	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	266						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TACTGCCAGACTTGGATGAAG	0.468													T	13215855	C	T	13215855	2	4	189	1	0	0	0	0	0	0	0	1	8235	564	20	4		4	KIAA1467	12	13215855	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	150421	13215855	120636040	3108	100965											
GRIN2B	2904	broad.mit.edu	37	chr12	13716145	13716145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgctctcgccagctgAcatctcaaacatgtgggcgt	11	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:13716145A>G	uc001rbt.2	-	13	4206	c.4027T>C	c.(4027-4029)TCA>CCA	p.S1343P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1343	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGCCAGCTGACATCTCAAAC	0.607													G	13716145	A	G	13716145	3	3	189	1	0	0	0	0	1	0	0	0	6780	275	10	3	431	3	GRIN2B	12	13716145	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	500290	13716145	120135750	3109	100966											
ATF7IP	55729	broad.mit.edu	37	chr12	14613945	14613945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggacttctttacccacagTgggcccatcaggactctata	8	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:14613945T>C	uc001rbw.2	+	9	2833	c.2675T>C	c.(2674-2676)GTG>GCG	p.V892A	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.V892A|ATF7IP_uc001rbv.1_Missense_Mutation_p.V891A|ATF7IP_uc001rbx.2_Missense_Mutation_p.V891A|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.V892A|ATF7IP_uc001rca.2_Missense_Mutation_p.V892A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	892					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			lung(3)|ovary(1)|skin(1)	5						TTACCCACAGTGGGCCCATCA	0.468													C	14613945	T	C	14613945	3	2	189	1	0	0	0	0	1	0	0	0	1087	1696	59	3	2705	3	ATF7IP	12	14613945	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	897800	14613945	119237950	3110	100967											
PLBD1	79887	broad.mit.edu	37	chr12	14664232	14664232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcagaatattctacaTatgtaggaatttgctccaca	6	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:14664232T>C	uc001rcc.1	-	8	1309	c.1148A>G	c.(1147-1149)TAT>TGT	p.Y383C		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	383					lipid catabolic process	extracellular region	hydrolase activity				0						ATATTCTACATATGTAGGAAT	0.373													C	14664232	T	C	14664232	3	2	189	1	0	0	0	0	1	0	0	0	12025	1406	49	3	529	3	PLBD1	12	14664232	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	50287	14664232	119187663	3111	100968											
GUCY2C	2984	broad.mit.edu	37	chr12	14827604	14827604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaaatttgggggtggTaatattttctccattttcaa	9	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:14827604T>C	uc001rcd.2	-	8	1176	c.1039A>G	c.(1039-1041)ACC>GCC	p.T347A	GUCY2C_uc009zhz.2_Missense_Mutation_p.T347A	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	347	Extracellular (Potential).				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			ovary(4)|skin(2)	6						TTGGGGGTGGTAATATTTTCT	0.373													C	14827604	T	C	14827604	3	2	189	1	0	0	0	0	1	0	0	0	6896	1638	57	3	2262	3	GUCY2C	12	14827604	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	163372	14827604	119024291	3112	100969											
C12orf60	144608	broad.mit.edu	37	chr12	14976450	14976450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaaaaactgcaggatgTactaaaaactgaggattcca	8	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:14976450T>C	uc001rcj.3	+	2	785	c.581T>C	c.(580-582)GTA>GCA	p.V194A		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	194										ovary(1)|central_nervous_system(1)	2						CTGCAGGATGTACTAAAAACT	0.413													C	14976450	T	C	14976450	3	2	189	1	0	0	0	0	1	0	0	0	1703	1638	57	3	583	3	C12orf60	12	14976450	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	148846	14976450	118875445	3113	100970											
ERP27	121506	broad.mit.edu	37	chr12	15090939	15090939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatgaattccatggcagCtgggacatctgtgagccacg	12	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:15090939C>T	uc001rco.2	-	2	163	c.142G>A	c.(142-144)GCT>ACT	p.A48T		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	48	Thioredoxin.					endoplasmic reticulum lumen				breast(1)	1						TCCATGGCAGCTGGGACATCT	0.527													T	15090939	C	T	15090939	3	4	189	1	0	0	0	0	1	0	0	0	5241	797	28	2	703	2	ERP27	12	15090939	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	114489	15090939	118760956	3114	100971											
RERG	85004	broad.mit.edu	37	chr12	15264338	15264338	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgatggttgcttggtgTcggtaggttgattctaaggg	15	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:15264338T>C	uc001rcs.2	-	3	272	c.132A>G	c.(130-132)CGA>CGG	p.R44R	RERG_uc001rct.2_Silent_p.R44R|RERG_uc010shu.1_Silent_p.R25R	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	44					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			lung(1)	1						TTGCTTGGTGTCGGTAGGTTG	0.353													C	15264338	T	C	15264338	2	2	189	1	0	0	0	0	0	0	0	1	13232	1654	58	3		3	RERG	12	15264338	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	173399	15264338	118587557	3115	100972											
PTPRO	5800	broad.mit.edu	37	chr12	15734725	15734725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctgtagacacttccGgatcaactatgtaagtcacc	9	12	2	1	rs146574957		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:15734725G>A	uc001rcv.1	+	23	3419	c.3245G>A	c.(3244-3246)CGG>CAG	p.R1082Q	PTPRO_uc001rcw.1_Missense_Mutation_p.R1054Q|PTPRO_uc001rcx.1_Missense_Mutation_p.R271Q|PTPRO_uc001rcy.1_Missense_Mutation_p.R271Q|PTPRO_uc001rcz.1_Missense_Mutation_p.R243Q|PTPRO_uc001rda.1_Missense_Mutation_p.R243Q	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	1082	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				AGACACTTCCGGATCAACTAT	0.398													A	15734725	G	A	15734725	3	1	189	1	0	0	0	0	1	0	0	0	12809	1116	39	1	3335	1	PTPRO	12	15734725	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	470387	15734725	118117170	3116	100973											
PIK3C2G	5288	broad.mit.edu	37	chr12	18641389	18641389	+	Frame_Shift_Del	DEL	A	A	-													tctctttccttcaggctgctAaaaaatgcagaaaatgaagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:18641388_18641388TA>T	uc001rdt.3	+	17	2503	c.2387_2387TA>T	c.(2386-2388)ctafs	p.L796fs	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Frame_Shift_Del_p.L837fs|PIK3C2G_uc010sic.2_Frame_Shift_Del_p.L615fs	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	796					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)				TTCAGGCTGCTAAAAAATGCA	0.363													-	18641389	A	-	18641389	7	5	189	1	0	1	0	1	0	0	0	0	11911	349	13	0	2454	0	PIK3C2G	12	18641389	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	2906664	18641389	115210506	3117	100974											
PLCZ1	89869	broad.mit.edu	37	chr12	18841025	18841025	+	Splice_Site	DEL	T	T	-													ggtatatcaggagctcaccaTtttttttaattacacgagtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:18841024_18841024AT>A	uc021qvx.1	-	13	1782	c.1591_splice	c.e13+1	p.A531_splice	PLCZ1_uc001rdv.4_Splice_Site_p.A427_splice|PLCZ1_uc001rdw.4_Splice_Site_p.A272_splice|PLCZ1_uc001rdu.1_Splice_Site_p.A313_splice|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	531	C2.				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)					GGAGCTCACCATTTTTTTTAA	0.294													-	18841025	T	-	18841025	8	5	189	1	0	1	0	1	0	0	1	0	12044	1493	52	0	249	0	PLCZ1	12	18841025	Splice_Site	DEL	T	TCGA-CG-5721-01A-11D-1600-08	199636	18841025	115010870	3118	100975											
PDE3A	5139	broad.mit.edu	37	chr12	20766423	20766423	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcgccgtcatgggcgaggCccacggcctcattaccgacc	11	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:20766423C>G	uc001reh.1	+	3	1080	c.1058C>G	c.(1057-1059)GCC>GGC	p.A353G		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	353					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATGGGCGAGGCCCACGGCCTC	0.542													G	20766423	C	G	20766423	3	3	189	1	0	0	0	0	1	0	0	0	11637	739	26	5	1068	5	PDE3A	12	20766423	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1925398	20766423	113085472	3119	100976											
PDE3A	5139	broad.mit.edu	37	chr12	20792787	20792787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttttacaggtatcttAcagactttttgaagacatgg	7	7	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:20792787A>G	uc001reh.1	+	10	2169	c.2147A>G	c.(2146-2148)TAC>TGC	p.Y716C		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	716					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAGGTATCTTACAGACTTTTT	0.343													G	20792787	A	G	20792787	3	3	189	1	0	0	0	0	1	0	0	0	11637	391	14	3	2185	3	PDE3A	12	20792787	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26364	20792787	113059108	3120	100977											
PDE3A	5139	broad.mit.edu	37	chr12	20799759	20799759	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtgacagatgataaaTacggatgtctgtctgggaat	11	4	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:20799759T>A	uc001reh.1	+	12	2462	c.2440T>A	c.(2440-2442)TAC>AAC	p.Y814N		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	814	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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGATGATAAATACGGATGTCT	0.418													A	20799759	T	A	20799759	3	1	189	1	0	0	0	0	1	0	0	0	11637	1406	49	5	2486	5	PDE3A	12	20799759	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6972	20799759	113052136	3121	100978											
LST-3TM12	338821	broad.mit.edu	37	chr12	21174422	21174422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattctaaagaaaccaatatTgatccatcagaaaattcaac	3	8	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:21174422T>C	uc010sin.1	+	3	246	c.246T>C	c.(244-246)ATT>ATC	p.I82I	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.I129I	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	82						membrane	transporter activity				0						AAACCAATATTGATCCATCAG	0.308													C	21174422	T	C	21174422	2	2	189	1	0	0	0	0	0	0	0	1	9066	1800	63	3		3	LST-3TM12	12	21174422	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	374663	21174422	112677473	3122	100979											
SLCO1B3	28234	broad.mit.edu	37	chr12	21229407	21229407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtattctagttccaatatAttttggggctctgattgata	9	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:21229407A>G	uc010sil.1	+	15	2017	c.1952A>G	c.(1951-1953)TAT>TGT	p.Y651C	LST-3TM12_uc010sim.1_Missense_Mutation_p.Y590C|LST-3TM12_uc010sin.1_Missense_Mutation_p.Y543C			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					GTTCCAATATATTTTGGGGCT	0.378													G	21229407	A	G	21229407	3	3	189	1	0	0	0	0	1	0	0	0	14724	449	16	3		3	SLCO1B3	12	21229407	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	54985	21229407	112622488	3123	100980											
SLCO1B1	10599	broad.mit.edu	37	chr12	21375266	21375266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgaaatcacttgcacTgggtttccactcaatggtta	8	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:21375266T>C	uc001req.3	+	13	1819	c.1715T>C	c.(1714-1716)CTG>CCG	p.L572P		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	572	Helical; Name=11; (Potential).				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			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCACTTGCACTGGGTTTCCAC	0.234													C	21375266	T	C	21375266	3	2	189	1	0	0	0	0	1	0	0	0	14723	1580	55	3	1761	3	SLCO1B1	12	21375266	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	145859	21375266	112476629	3124	100981											
RECQL	5965	broad.mit.edu	37	chr12	21623156	21623156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgatttttcttttcttaGctcctgtattcttagaacca	4	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:21623156G>T	uc001rex.2	-	16	2270	c.1922C>A	c.(1921-1923)GCT>GAT	p.A641D	RECQL_uc001rey.2_Missense_Mutation_p.A641D|PYROXD1_uc001rew.2_3'UTR|PYROXD1_uc009ziq.2_3'UTR|PYROXD1_uc009zir.2_3'UTR	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	641					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TCTTTTCTTAGCTCCTGTATT	0.333								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	21623156	G	T	21623156	3	4	189	1	0	0	0	0	1	0	0	0	13201	971	34	5	31	5	RECQL	12	21623156	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	247890	21623156	112228739	3125	100982											
LDHB	3945	broad.mit.edu	37	chr12	21788591	21788591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctggttaatccccgggcaTtgaggatacatggaaggctc	13	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:21788591T>C	uc001rfc.2	-	7	908	c.890A>G	c.(889-891)AAT>AGT	p.N297S	LDHB_uc001rfd.2_Missense_Mutation_p.N297S|LDHB_uc001rfe.2_Missense_Mutation_p.N297S	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	297					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	TCCCCGGGCATTGAGGATACA	0.458													C	21788591	T	C	21788591	3	2	189	1	0	0	0	0	1	0	0	0	8701	1493	52	3	118	3	LDHB	12	21788591	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	165435	21788591	112063304	3126	100983											
KCNJ8	3764	broad.mit.edu	37	chr12	21919133	21919133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcaatcacgtggcagaTgatcaaaggggccaccagaa	11	10	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:21919133T>C	uc001rff.2	-	3	1137	c.799A>G	c.(799-801)ATC>GTC	p.I267V		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	267	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	ACGTGGCAGATGATCAAAGGG	0.483													C	21919133	T	C	21919133	3	2	189	1	0	0	0	0	1	0	0	0	8056	1464	51	3	479	3	KCNJ8	12	21919133	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	130542	21919133	111932762	3127	100984											
ABCC9	10060	broad.mit.edu	37	chr12	21970154	21970154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagttctctgactccatagTcaggaaactgttcaccttct	6	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:21970154T>C	uc001rfi.1	-	31	3879	c.3859A>G	c.(3859-3861)ACT>GCT	p.T1287A	ABCC9_uc001rfh.2_Missense_Mutation_p.T1287A|ABCC9_uc001rfj.1_Missense_Mutation_p.T1251A	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1287	Cytoplasmic (Potential).				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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GACTCCATAGTCAGGAAACTG	0.388													C	21970154	T	C	21970154	3	2	189	1	0	0	0	0	1	0	0	0	59	1667	58	3	964	3	ABCC9	12	21970154	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	51021	21970154	111881741	3128	100985											
ABCC9	10060	broad.mit.edu	37	chr12	22061055	22061055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactttgtagcaataaagtActgaattggcgcaaggagca	10	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:22061055A>G	uc001rfi.1	-	9	1431	c.1411T>C	c.(1411-1413)TAC>CAC	p.Y471H	ABCC9_uc001rfh.2_Missense_Mutation_p.Y471H|ABCC9_uc001rfj.1_Missense_Mutation_p.Y471H	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	471	ABC transmembrane type-1 1.|Helical; Name=9; (Potential).				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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAATAAAGTACTGAATTGGC	0.373													G	22061055	A	G	22061055	3	3	189	1	0	0	0	0	1	0	0	0	59	391	14	3	3500	3	ABCC9	12	22061055	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	90901	22061055	111790840	3129	100986											
SOX5	6660	broad.mit.edu	37	chr12	23716308	23716308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcttcttggattgcctTggtgacagcatcatggtcat	11	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:23716308T>C	uc001rfw.2	-	11	1474	c.1372A>G	c.(1372-1374)AAG>GAG	p.K458E	SOX5_uc001rfx.2_Missense_Mutation_p.K445E|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.K72E|SOX5_uc010siv.1_Missense_Mutation_p.K445E|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.K410E	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	458	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGGATTGCCTTGGTGACAGCA	0.428													C	23716308	T	C	23716308	3	2	189	1	0	0	0	0	1	0	0	0	14954	1821	63	3	939	3	SOX5	12	23716308	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1655253	23716308	110135587	3130	100987											
SOX5	6660	broad.mit.edu	37	chr12	23893942	23893942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcatacccatgagttgCctttctttctcagctaagct	6	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:23893942C>T	uc001rfw.2	-	5	702	c.600G>A	c.(598-600)AGG>AGA	p.R200R	SOX5_uc001rfx.2_Silent_p.R187R|SOX5_uc001rfy.2_Silent_p.R187R|SOX5_uc010siv.1_Silent_p.R187R|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.R152R	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	200	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						CCATGAGTTGCCTTTCTTTCT	0.423													T	23893942	C	T	23893942	2	4	189	1	0	0	0	0	0	0	0	1	14954	738	26	2		2	SOX5	12	23893942	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	177634	23893942	109957953	3131	100988											
BCAT1	586	broad.mit.edu	37	chr12	25002718	25002718	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagagacacagatttacttAccctcccatcttgcagtccc	5	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:25002718A>G	uc001rgd.3	-	6	1116	c.674_splice	c.e6+1	p.G225_splice	BCAT1_uc001rgc.2_Splice_Site_p.G224_splice|BCAT1_uc010six.1_Splice_Site_p.G237_splice|BCAT1_uc010siy.1_Splice_Site_p.G188_splice|BCAT1_uc001rge.3_Splice_Site_p.G164_splice	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic						branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AGATTTACTTACCCTCCCATC	0.408													G	25002718	A	G	25002718	5	3	189	1	0	0	0	0	0	0	1	0	1354	405	14	3	508	3	BCAT1	12	25002718	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1108776	25002718	108849177	3132	100989											
ITPR2	3709	broad.mit.edu	37	chr12	26714699	26714699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctttcatgtacctgtAacttttcaataatatttctg	4	9	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:26714699A>G	uc001rhg.2	-	35	5234	c.4817T>C	c.(4816-4818)TTA>TCA	p.L1606S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1606	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ATGTACCTGTAACTTTTCAAT	0.333													G	26714699	A	G	26714699	3	3	189	1	0	0	0	0	1	0	0	0	7921	372	13	3	3380	3	ITPR2	12	26714699	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1711981	26714699	107137196	3133	100990											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27107161	27107161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagattaagagatcatgacGatgcagcagaatctctgatt	9	6	2	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:27107161G>A	uc001rhm.2	+	2	412	c.70G>A	c.(70-72)GAT>AAT	p.D24N	FGFR1OP2_uc001rhl.2_Missense_Mutation_p.D24N|FGFR1OP2_uc001rhn.2_Missense_Mutation_p.D24N	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	24	Potential.					cytoplasm					0	Colorectal(261;0.0847)					AGATCATGACGATGCAGCAGA	0.358													A	27107161	G	A	27107161	3	1	189	1	0	0	0	0	1	0	0	0	5865	1058	37	1	72	1	FGFR1OP2	12	27107161	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	392462	27107161	106744734	3134	100991											
STK38L	23012	broad.mit.edu	37	chr12	27475266	27475266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttctctttctagtgccaAataccacagaaccggactac	5	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:27475266A>G	uc001rhr.2	+	14	1472	c.1273A>G	c.(1273-1275)AAT>GAT	p.N425D	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.N332D|STK38L_uc010sjn.1_Missense_Mutation_p.N163D|STK38L_uc010sjo.1_Missense_Mutation_p.N90D	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	425	AGC-kinase C-terminal.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)					TCTAGTGCCAAATACCACAGA	0.363													G	27475266	A	G	27475266	3	3	189	1	0	0	0	0	1	0	0	0	15303	14	1	3	1323	3	STK38L	12	27475266	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	368105	27475266	106376629	3135	100992											
FAR2	55711	broad.mit.edu	37	chr12	29485561	29485561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacgtgcgccagttgaActggttggaatacattgaaa	11	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:29485561A>G	uc001ris.3	+	11	1433	c.1286A>G	c.(1285-1287)AAC>AGC	p.N429S	FAR2_uc001rit.2_Missense_Mutation_p.N429S|FAR2_uc009zjm.2_Missense_Mutation_p.N332S	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	429					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				0						CGCCAGTTGAACTGGTTGGAA	0.403													G	29485561	A	G	29485561	3	3	189	1	0	0	0	0	1	0	0	0	5675	43	2	3	1324	3	FAR2	12	29485561	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2010295	29485561	104366334	3136	100993											
ERGIC2	51290	broad.mit.edu	37	chr12	29524548	29524548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaacttaaagttttttTccgattcagtcgcctcatct	4	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:29524548T>C	uc001riv.2	-	2	152	c.19A>G	c.(19-21)AAA>GAA	p.K7E	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	7	Cytoplasmic (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	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)	AAAGTTTTTTTCCGATTCAGT	0.378													C	29524548	T	C	29524548	3	2	189	1	0	0	0	0	1	0	0	0	5224	1792	62	3	1166	3	ERGIC2	12	29524548	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	38987	29524548	104327347	3137	100994											
IPO8	10526	broad.mit.edu	37	chr12	30814171	30814171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcttcatattcatcActttgaagaactttgccaaa	3	10	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:30814171A>G	uc001rjd.2	-	16	1955	c.1785T>C	c.(1783-1785)AGT>AGC	p.S595S	IPO8_uc001rje.1_Silent_p.S84S|IPO8_uc010sjt.1_Silent_p.S390S	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	595					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	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)					CATATTCATCACTTTGAAGAA	0.333													G	30814171	A	G	30814171	2	3	189	1	0	0	0	0	0	0	0	1	7798	156	6	3		3	IPO8	12	30814171	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1289623	30814171	103037724	3138	100995											
IPO8	10526	broad.mit.edu	37	chr12	30815390	30815390	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacagttcctgcataatAggcctcacatgtggcttcat	8	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:30815390A>G	uc001rjd.2	-	15	1796	c.1626T>C	c.(1624-1626)CCT>CCC	p.P542P	IPO8_uc001rje.1_Silent_p.P31P|IPO8_uc010sjt.1_Silent_p.P337P	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	542					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	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)					CCTGCATAATAGGCCTCACAT	0.343													G	30815390	A	G	30815390	2	3	189	1	0	0	0	0	0	0	0	1	7798	407	15	3		3	IPO8	12	30815390	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1219	30815390	103036505	3139	100996											
CAPRIN2	65981	broad.mit.edu	37	chr12	30873765	30873765	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggagtctctgaggtcaTaaactctgtttcagatccag	9	10	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:30873765T>A	uc001rji.1	-	12	2879	c.2128A>T	c.(2128-2130)ATG>TTG	p.M710L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.M507L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.M377L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.M710L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.M377L|CAPRIN2_uc001rjk.3_Missense_Mutation_p.M710L|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	710					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			ovary(1)|central_nervous_system(1)	2	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)					TCTGAGGTCATAAACTCTGTT	0.378													A	30873765	T	A	30873765	3	1	189	1	0	0	0	0	1	0	0	0	2636	1406	49	5	1283	5	CAPRIN2	12	30873765	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	58375	30873765	102978130	3140	100997											
DENND5B	160518	broad.mit.edu	37	chr12	31545266	31545266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgaacccatggtggaaaActtgctcaagggctgcaacc	10	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:31545266A>G	uc001rki.1	-	19	3587	c.3401T>C	c.(3400-3402)GTT>GCT	p.V1134A	DENND5B_uc001rkh.1_Missense_Mutation_p.V1169A|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1134	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						ATGGTGGAAAACTTGCTCAAG	0.453													G	31545266	A	G	31545266	3	3	189	1	0	0	0	0	1	0	0	0	4437	43	2	3	435	3	DENND5B	12	31545266	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	671501	31545266	102306629	3141	100998											
BICD1	636	broad.mit.edu	37	chr12	32481126	32481126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaggacctcatctgaAccagttgcaaaagaaagcac	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:32481126A>G	uc001rku.2	+	5	1818	c.1737A>G	c.(1735-1737)GAA>GAG	p.E579E	BICD1_uc001rkv.2_Silent_p.E579E|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	579					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			large_intestine(1)|central_nervous_system(1)	2	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)			CCTCATCTGAACCAGTTGCAA	0.532													G	32481126	A	G	32481126	2	3	189	1	0	0	0	0	0	0	0	1	1428	40	2	3		3	BICD1	12	32481126	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	935860	32481126	101370769	3142	100999											
FGD4	121512	broad.mit.edu	37	chr12	32754251	32754251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagcaaaccgaggcTcgtttccagcagagatggtg	14	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:32754251T>C	uc001rkz.2	+	6	1207	c.730T>C	c.(730-732)TCG>CCG	p.S244P	FGD4_uc001rlc.2_Missense_Mutation_p.S329P|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.S356P|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	244	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|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					aaaccgaggctcGTTTCCAGC	0.179													C	32754251	T	C	32754251	3	2	189	1	0	0	0	0	1	0	0	0	5835	1551	54	3	744	3	FGD4	12	32754251	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	273125	32754251	101097644	3143	101000											
KIF21A	55605	broad.mit.edu	37	chr12	39703510	39703510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacgacattgttgggatgAccccccagtgacattatttc	9	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:39703510A>G	uc001rly.2	-	33	4301	c.4155T>C	c.(4153-4155)GGT>GGC	p.G1385G	KIF21A_uc001rlv.2_Silent_p.G330G|KIF21A_uc001rlw.2_Silent_p.G655G|KIF21A_uc001rlx.2_Silent_p.G1372G|KIF21A_uc001rlz.2_Silent_p.G1332G|KIF21A_uc010skl.1_Silent_p.G1348G|KIF21A_uc001rlt.2_Silent_p.G5G|KIF21A_uc001rlu.2_Silent_p.G5G	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1385	WD 2.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTTGGGATGACCCCCCAGTG	0.358													G	39703510	A	G	39703510	2	3	189	1	0	0	0	0	0	0	0	1	8288	262	10	3		3	KIF21A	12	39703510	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6949259	39703510	94148385	3144	101001											
KIF21A	55605	broad.mit.edu	37	chr12	39735929	39735929	+	Splice_Site	DEL	A	A	-													tcctctttaccagccacactAaaaaaaggaacataagggta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:39735928_39735928TA>T	uc001rly.3	-	13	2133	c.1713_splice	c.e13-1	p.S571_splice	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_Splice_Site_p.S558_splice|KIF21A_uc001rlz.3_Splice_Site_p.S558_splice|KIF21A_uc010skl.2_Splice_Site_p.S558_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	571					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)				CCAGCCACACTAAAAAAAGGA	0.333													-	39735929	A	-	39735929	8	5	189	1	0	1	0	1	0	0	1	0	8288	377	13	0		0	KIF21A	12	39735929	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	32419	39735929	94115966	3145	101002											
C12orf40	283461	broad.mit.edu	37	chr12	40040225	40040225	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaatgtcgcctcactgTgtaccttctaaactctgcct	5	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:40040225T>C	uc001rmc.2	+	4	464	c.297T>C	c.(295-297)TGT>TGC	p.C99C	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	99										ovary(6)	6						CGCCTCACTGTGTACCTTCTA	0.338													C	40040225	T	C	40040225	2	2	189	1	0	0	0	0	0	0	0	1	1686	1702	59	3		3	C12orf40	12	40040225	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	304296	40040225	93811670	3146	101003											
SLC2A13	114134	broad.mit.edu	37	chr12	40223949	40223949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctttattaactggaacAcaggaggagtcaatgacagt	11	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:40223949A>G	uc010skm.1	-	7	1452	c.1401T>C	c.(1399-1401)TGT>TGC	p.C467C	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.C114C	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	467	Extracellular (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				TAACTGGAACACAGGAGGAGT	0.363										HNSCC(50;0.14)			G	40223949	A	G	40223949	2	3	189	1	0	0	0	0	0	0	0	1	14542	157	6	3		3	SLC2A13	12	40223949	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	183724	40223949	93627946	3147	101004											
PDZRN4	29951	broad.mit.edu	37	chr12	41967558	41967558	+	Frame_Shift_Del	DEL	A	A	-													atatcattgaactgagtcacAaaaagatgatgaaaaagaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:41967557_41967557CA>C	uc010skn.2	+	9	2984	c.2976_2976CA>C	c.(2974-2976)cacfs	p.H992fs	PDZRN4_uc001rmq.4_Frame_Shift_Del_p.H734fs|PDZRN4_uc009zjz.3_Frame_Shift_Del_p.H732fs|PDZRN4_uc001rmr.3_Frame_Shift_Del_p.H619fs	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	992							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)				AACTGAGTCACAAAAAGATGA	0.468													-	41967558	A	-	41967558	7	5	189	1	0	1	0	1	0	0	0	0	11710	131	5	0	3088	0	PDZRN4	12	41967558	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1743609	41967558	91884337	3148	101005											
PRICKLE1	144165	broad.mit.edu	37	chr12	42853620	42853620	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactacttggttaagaaatAatacaatttttgcccttgtg	6	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:42853620A>G	uc010skv.1	-	8	2774	c.2487T>C	c.(2485-2487)ATT>ATC	p.I829I	PRICKLE1_uc001rnl.2_Silent_p.I829I|PRICKLE1_uc010skw.1_Silent_p.I829I|PRICKLE1_uc001rnm.2_Silent_p.I829I|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	829				Missing: Abolishes localization to the nuclear membrane.	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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTTAAGAAATAATACAATTTT	0.393													G	42853620	A	G	42853620	2	3	189	1	0	0	0	0	0	0	0	1	12486	358	13	3		3	PRICKLE1	12	42853620	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	886062	42853620	90998275	3149	101006											
PRICKLE1	144165	broad.mit.edu	37	chr12	42853889	42853889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggttctgcaggccataatCggaagtggcatgggcgtact	15	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:42853889C>T	uc010skv.1	-	8	2505	c.2218G>A	c.(2218-2220)GAT>AAT	p.D740N	PRICKLE1_uc001rnl.2_Missense_Mutation_p.D740N|PRICKLE1_uc010skw.1_Missense_Mutation_p.D740N|PRICKLE1_uc001rnm.2_Missense_Mutation_p.D740N|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	740					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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGGCCATAATCGGAAGTGGCA	0.493													T	42853889	C	T	42853889	3	4	189	1	0	0	0	0	1	0	0	0	12486	884	31	1	281	1	PRICKLE1	12	42853889	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	269	42853889	90998006	3150	101007											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858973	42858974	+	Frame_Shift_Del	DEL	AA	AA	-													gaaggaagggacatcccaacAaagaggctttacactgggca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:42858972_42858973CAA>C	uc010skv.2	-	6	1150_1151	c.863_864TTG>G	c.(862-864)ttgfs	p.L288fs	PRICKLE1_uc001rnl.3_Frame_Shift_Del_p.L288fs|PRICKLE1_uc010skw.2_Frame_Shift_Del_p.L288fs|PRICKLE1_uc001rnm.3_Frame_Shift_Del_p.L288fs	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	288	LIM zinc-binding 3.				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)		GACATCCCAACAAAGAGGCTTT	0.51													-	42858974	AA	-	42858973	7	5	189	1	0	1	0	1	0	0	0	0	12486	131	5	0	1640	0	PRICKLE1	12	42858973	Frame_Shift_Del	DEL	AA	TCGA-CG-5721-01A-11D-1600-08	5084	42858973	90992922	3151	101008											
ADAMTS20	80070	broad.mit.edu	37	chr12	43792885	43792885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctcattccagctattgGctttccatgaagggcatctg	8	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:43792885G>A	uc010skx.1	-	29	4436	c.4436C>T	c.(4435-4437)GCC>GTC	p.A1479V		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1479	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)		CCAGCTATTGGCTTTCCATGA	0.299													A	43792885	G	A	43792885	3	1	189	1	0	0	0	0	1	0	0	0	266	1203	42	2	1339	2	ADAMTS20	12	43792885	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	933912	43792885	90059010	3152	101009											
PUS7L	83448	broad.mit.edu	37	chr12	44136258	44136258	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttttcaaaatccatAccatttcattcttcagcaaa	1	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:44136258A>G	uc001rnq.3	-	5	1851	c.1362_splice	c.e5+1	p.M454_splice	PUS7L_uc001rnr.3_Splice_Site_p.M454_splice|PUS7L_uc001rns.3_Splice_Site_p.M454_splice|PUS7L_uc009zkb.2_Splice_Site_p.M141_splice	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CAAAATCCATACCATTTCATT	0.348													G	44136258	A	G	44136258	5	3	189	1	0	0	0	0	0	0	1	0	12834	405	14	3	761	3	PUS7L	12	44136258	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	343373	44136258	89715637	3153	101010											
TMEM117	84216	broad.mit.edu	37	chr12	44782204	44782204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaagacaaaacttacActcgcatgaaaagaaaatct	5	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:44782204A>G	uc001rod.2	+	8	1360	c.1294A>G	c.(1294-1296)ACT>GCT	p.T432A	TMEM117_uc001roe.2_Missense_Mutation_p.T328A|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	432						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAAACTTACACTCGCATGAA	0.418													G	44782204	A	G	44782204	3	3	189	1	0	0	0	0	1	0	0	0	16028	159	6	3	1320	3	TMEM117	12	44782204	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	645946	44782204	89069691	3154	101011											
NELL2	4753	broad.mit.edu	37	chr12	45170874	45170874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctccatgattttctgcAcaagtccatggaagtcattg	9	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:45170874A>G	uc001rog.2	-	7	1308	c.713T>C	c.(712-714)GTG>GCG	p.V238A	NELL2_uc001rof.3_Missense_Mutation_p.V237A|NELL2_uc001roh.2_Missense_Mutation_p.V238A|NELL2_uc009zkd.2_Missense_Mutation_p.V237A|NELL2_uc010skz.1_Missense_Mutation_p.V288A|NELL2_uc010sla.1_Missense_Mutation_p.V261A|NELL2_uc001roi.1_Missense_Mutation_p.V238A|NELL2_uc010slb.1_Missense_Mutation_p.V237A|NELL2_uc001roj.2_Missense_Mutation_p.V238A	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	238	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATTTTCTGCACAAGTCCATG	0.388													G	45170874	A	G	45170874	3	3	189	1	0	0	0	0	1	0	0	0	10334	159	6	3	1793	3	NELL2	12	45170874	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	388670	45170874	88681021	3155	101012											
ANO6	196527	broad.mit.edu	37	chr12	45771863	45771863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttcgacagttttggaAccctggtctttgcagtattt	9	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:45771863A>G	uc001roo.2	+	10	1467	c.1132A>G	c.(1132-1134)ACC>GCC	p.T378A	ANO6_uc010sld.1_Missense_Mutation_p.T378A|ANO6_uc010sle.1_Missense_Mutation_p.T378A|ANO6_uc010slf.1_Missense_Mutation_p.T399A|ANO6_uc010slg.1_Missense_Mutation_p.T360A	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	378	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						CAGTTTTGGAACCCTGGTCTT	0.313													G	45771863	A	G	45771863	3	3	189	1	0	0	0	0	1	0	0	0	701	43	2	3	1190	3	ANO6	12	45771863	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	600989	45771863	88080032	3156	101013											
SFRS2IP	9169	broad.mit.edu	37	chr12	46316821	46316821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgctgtgacttgatgaCgaagtattaccagaacttgg	11	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:46316821C>T	uc001rox.2	-	13	4310	c.4023G>A	c.(4021-4023)TCG>TCA	p.S1341S	SFRS2IP_uc001row.2_Silent_p.S1026S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1341					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		GACTTGATGACGAAGTATTAC	0.468													T	46316821	C	T	46316821	2	4	189	1	0	0	0	0	0	0	0	1	14177	523	19	1		1	SFRS2IP	12	46316821	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	544958	46316821	87535074	3157	101014											
SFRS2IP	9169	broad.mit.edu	37	chr12	46322023	46322023	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaacttccccttcctcAccaactagcacaggaagatc	4	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:46322023A>G	uc001rox.2	-	11	1748	c.1461T>C	c.(1459-1461)GGT>GGC	p.G487G	SFRS2IP_uc001row.2_Silent_p.G172G|SFRS2IP_uc001roy.1_Silent_p.G561G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	487					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		CCCCTTCCTCACCAACTAGCA	0.378													G	46322023	A	G	46322023	2	3	189	1	0	0	0	0	0	0	0	1	14177	146	6	3		3	SFRS2IP	12	46322023	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5202	46322023	87529872	3158	101015											
SLC38A2	54407	broad.mit.edu	37	chr12	46756417	46756417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtgagttacagaactcCggatctgcaaaaaaaataaa	7	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:46756417C>T	uc001rpg.2	-	14	1624	c.1184G>A	c.(1183-1185)CGG>CAG	p.R395Q	SLC38A2_uc010sli.1_Missense_Mutation_p.R233Q|SLC38A2_uc001rph.2_Missense_Mutation_p.R295Q	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	395	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	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)		TACAGAACTCCGGATCTGCaa	0.313													T	46756417	C	T	46756417	3	4	189	1	0	0	0	0	1	0	0	0	14604	652	23	1	348	1	SLC38A2	12	46756417	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	434394	46756417	87095478	3159	101016											
SLC38A2	54407	broad.mit.edu	37	chr12	46758170	46758170	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaataagcatatttagttAcctgtgagttgaaaataaaa	7	3	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:46758170A>T	uc001rpg.2	-	10	1313	c.873_splice	c.e10+1	p.Q291_splice	SLC38A2_uc010sli.1_Splice_Site_p.Q129_splice|SLC38A2_uc001rph.2_Splice_Site_p.Q191_splice	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2						cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	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)		ATATTTAGTTACCTGTGAGTT	0.393													T	46758170	A	T	46758170	5	4	189	1	0	0	0	0	0	0	1	0	14604	405	14	5	673	5	SLC38A2	12	46758170	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1753	46758170	87093725	3160	101017											
SLC38A2	54407	broad.mit.edu	37	chr12	46758283	46758283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtgtttattgtttcGttaattatcaaagcagcttc	9	5	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:46758283G>A	uc001rpg.2	-	10	1202	c.762C>T	c.(760-762)AAC>AAT	p.N254N	SLC38A2_uc010sli.1_Silent_p.N92N|SLC38A2_uc001rph.2_Silent_p.N154N	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	254	Extracellular (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	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)		TTATTGTTTCGTTAATTATCA	0.368													A	46758283	G	A	46758283	2	1	189	1	0	0	0	0	0	0	0	1	14604	1136	40	1		1	SLC38A2	12	46758283	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	113	46758283	87093612	3161	101018											
FAM113B	91523	broad.mit.edu	37	chr12	47629856	47629856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccggttcccacagggtcCcccagatgcctgtttttcct	9	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:47629856C>T	uc001rpn.2	+	4	1741	c.1010C>T	c.(1009-1011)CCC>CTC	p.P337L	FAM113B_uc001rpq.2_Missense_Mutation_p.P337L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	337	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					CCACAGGGTCCCCCAGATGCC	0.363													T	47629856	C	T	47629856	3	4	189	1	0	0	0	0	1	0	0	0	5402	623	22	4	1012	4	FAM113B	12	47629856	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	871573	47629856	86222039	3162	101019											
ADCY6	112	broad.mit.edu	37	chr12	49170029	49170029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgaggaaagtctcaAtgtgctgctccttgaggtac	12	9	1	2	rs143114060	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49170029A>G	uc001rsh.3	-	7	2300	c.1640T>C	c.(1639-1641)ATT>ACT	p.I547T	ADCY6_uc001rsj.3_Missense_Mutation_p.I547T|ADCY6_uc001rsi.3_Missense_Mutation_p.I547T|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	547	Cytoplasmic (Potential).				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	ATP binding|metal ion binding				0						GAAAGTCTCAATGTGCTGCTC	0.632													G	49170029	A	G	49170029	3	3	189	1	0	0	0	0	1	0	0	0	298	101	4	3	1926	3	ADCY6	12	49170029	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1540173	49170029	84681866	3163	101020											
PRKAG1	5571	broad.mit.edu	37	chr12	49399287	49399287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccataaaggggcagctcGtacaccgttagtcaccaaag	9	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49399287G>A	uc001rsy.2	-	4	277	c.208C>T	c.(208-210)CGA>TGA	p.R70*	uc001rsw.2_Intron|PRKAG1_uc010smd.1_Nonsense_Mutation_p.R38*|PRKAG1_uc001rsx.2_Translation_Start_Site|PRKAG1_uc001rsz.2_Nonsense_Mutation_p.R70*|PRKAG1_uc009zlb.2_Translation_Start_Site|PRKAG1_uc010sme.1_Nonsense_Mutation_p.R70*	NM_002733	NP_002724	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic	70	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			kidney(1)	1						GGGGCAGCTCGTACACCGTTA	0.423													A	49399287	G	A	49399287	4	1	189	1	0	0	0	0	0	1	0	0	12500	1153	40	1	823	1	PRKAG1	12	49399287	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	229258	49399287	84452608	3164	101021											
PRKAG1	5571	broad.mit.edu	37	chr12	49399309	49399309	+	Frame_Shift_Del	DEL	A	A	-													acaccgttagtcaccaaagcAaaaaaagctttcttcacctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49399308_49399308CA>C	uc001rsy.3	-	3	293	c.187_187TG>G	c.(187-189)gctfs	p.A63fs	PRKAG1_uc010smd.2_Frame_Shift_Del_p.A31fs|PRKAG1_uc001rsz.3_Frame_Shift_Del_p.A63fs|PRKAG1_uc010sme.2_Frame_Shift_Del_p.A63fs	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	63	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						GTCACCAAAGCAAAAAAAGCT	0.408													-	49399309	A	-	49399309	7	5	189	1	0	1	0	1	0	0	0	0	12500	127	5	0	845	0	PRKAG1	12	49399309	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	22	49399309	84452586	3165	101022											
MLL2	8085	broad.mit.edu	37	chr12	49434235	49434235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactggaagcgaggggtaaCgggtgatgggcaaaaagctt	18	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49434235C>T	uc001rta.3	-	31	7318	c.7318G>A	c.(7318-7320)GTT>ATT	p.V2440I		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2440	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CGAGGGGTAACGGGTGATGGG	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49434235	C	T	49434235	3	4	189	1	0	0	0	0	1	0	0	0	9621	536	19	1	9391	1	MLL2	12	49434235	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	34926	49434235	84417660	3166	101023											
MLL2	8085	broad.mit.edu	37	chr12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-													aaggtgccaaagcctgggcaGggggtggctcctggggcctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49434492delG	uc001rta.3	-	31	7061	c.7061delC	c.(7060-7062)CCTfs	p.P2354fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2354	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCCTGGGCAGGGGGTGGCTC	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49434492	G	-	49434492	7	5	189	1	0	1	0	1	0	0	0	0	9621	1000	35	0	9648	0	MLL2	12	49434492	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	257	49434492	84417403	3167	101024											
MLL2	8085	broad.mit.edu	37	chr12	49434729	49434729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactccccaaaaggtgggGgcgagagcaggggctcggaa	19	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49434729G>A	uc001rta.3	-	31	6824	c.6824C>T	c.(6823-6825)CCC>CTC	p.P2275L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2275	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AAAAGGTGGGGGCGAGAGCAG	0.622			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49434729	G	A	49434729	3	1	189	1	0	0	0	0	1	0	0	0	9621	1232	43	4	9885	4	MLL2	12	49434729	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	237	49434729	84417166	3168	101025											
LMBR1L	55716	broad.mit.edu	37	chr12	49499707	49499707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggcagggacacttacGcaatcttgttgacggtggca	14	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49499707G>A	uc001rth.3	-	3	533	c.191C>T	c.(190-192)GCG>GTG	p.A64V	LMBR1L_uc001rtg.3_Missense_Mutation_p.A59V|LMBR1L_uc001rti.3_Missense_Mutation_p.A64V|LMBR1L_uc001rtj.1_5'Flank|LMBR1L_uc009zld.1_5'UTR|LMBR1L_uc010smf.1_Intron	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	64	LCN1-binding.|Cytoplasmic (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						GGACACTTACGCAATCTTGTT	0.557													A	49499707	G	A	49499707	3	1	189	1	0	0	0	0	1	0	0	0	8841	1101	38	1	1338	1	LMBR1L	12	49499707	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	64978	49499707	84352188	3169	101026											
PRPH	5630	broad.mit.edu	37	chr12	49689976	49689976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggttggaggaggagacGcgcaagcgggaggacgcgga	21	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:49689976G>A	uc001rtu.2	+	2	636	c.561G>A	c.(559-561)ACG>ACA	p.T187T		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	187	Coil 1B.|Rod.						structural molecule activity				0						AGGAGGAGACGCGCAAGCGGG	0.682													A	49689976	G	A	49689976	2	1	189	1	0	0	0	0	0	0	0	1	12576	1074	38	1		1	PRPH	12	49689976	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	190269	49689976	84161919	3170	101027											
NCKAP5L	57701	broad.mit.edu	37	chr12	50196941	50196941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgggcaagtgccgagTtctctgcctgcaggagtgag	16	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:50196941T>G	uc009zlk.2	-	4	333	c.131A>C	c.(130-132)AAC>ACC	p.N44T		NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	40	Potential.									central_nervous_system(1)	1						AAGTGCCGAGTTCTCTGCCTG	0.572													G	50196941	T	G	50196941	3	3	189	1	0	0	0	0	1	0	0	0	10224	1725	60	5	3913	5	NCKAP5L	12	50196941	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	506965	50196941	83654954	3171	101028											
GPD1	2819	broad.mit.edu	37	chr12	50500173	50500173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggggccaacattgccagcGaggtggctgatgagaagttc	16	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:50500173G>A	uc001rvz.2	+	4	496	c.463G>A	c.(463-465)GAG>AAG	p.E155K	GPD1_uc001rwa.2_Missense_Mutation_p.E132K	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	155					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	CATTGCCAGCGAGGTGGCTGA	0.592													A	50500173	G	A	50500173	3	1	189	1	0	0	0	0	1	0	0	0	6604	1059	37	1	477	1	GPD1	12	50500173	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	303232	50500173	83351722	3172	101029											
LARP4	113251	broad.mit.edu	37	chr12	50847269	50847269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaagccatcaatacattTtttgctaagaatggttatcg	6	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:50847269T>C	uc001rwp.1	+	9	975	c.831T>C	c.(829-831)TTT>TTC	p.F277F	LARP4_uc001rwo.1_Silent_p.F283F|LARP4_uc001rwq.1_Intron|LARP4_uc001rwr.1_Silent_p.F277F|LARP4_uc001rws.1_Silent_p.F276F|LARP4_uc009zlr.1_Silent_p.F96F|LARP4_uc001rwt.1_Intron|LARP4_uc001rwm.2_Silent_p.F277F|LARP4_uc001rwn.2_Silent_p.F207F	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	277	RRM.						nucleotide binding|RNA binding			ovary(1)	1						TCAATACATTTTTTGCTAAGA	0.308													C	50847269	T	C	50847269	2	2	189	1	0	0	0	0	0	0	0	1	8630	1838	64	3		3	LARP4	12	50847269	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	347096	50847269	83004626	3173	101030											
DIP2B	57609	broad.mit.edu	37	chr12	51034587	51034587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttctgctccctctaagTaccaccgaactcgatctggg	7	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:51034587T>C	uc001rwv.2	+	3	409	c.253T>C	c.(253-255)TAC>CAC	p.Y85H	DIP2B_uc001rwu.2_Missense_Mutation_p.Y85H|DIP2B_uc009zls.1_5'UTR	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	85						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TCCCTCTAAGTACCACCGAAC	0.453													C	51034587	T	C	51034587	3	2	189	1	0	0	0	0	1	0	0	0	4528	1638	57	3	263	3	DIP2B	12	51034587	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	187318	51034587	82817308	3174	101031											
LETMD1	25875	broad.mit.edu	37	chr12	51449688	51449688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaactgatttcttagatAtctatcatgctttccggaag	6	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:51449688A>G	uc001rxm.2	+	5	600	c.544A>G	c.(544-546)ATC>GTC	p.I182V	LETMD1_uc010smz.1_Missense_Mutation_p.I132V|LETMD1_uc010sna.1_Intron|LETMD1_uc001rxl.2_Missense_Mutation_p.I126V|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.I195V|LETMD1_uc001rxn.2_Missense_Mutation_p.I25V|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.I65V|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	182	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						TTTCTTAGATATCTATCATGC	0.433													G	51449688	A	G	51449688	3	3	189	1	0	0	0	0	1	0	0	0	8736	449	16	3	562	3	LETMD1	12	51449688	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	415101	51449688	82402207	3175	101032											
CSRNP2	81566	broad.mit.edu	37	chr12	51458364	51458364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtggaggtaatgagtcCggacccggattggattaaat	15	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:51458364C>T	uc001rxu.1	-	5	1095	c.797G>A	c.(796-798)CGG>CAG	p.R266Q		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	266					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GTAATGAGTCCGGACCCGGAT	0.602													T	51458364	C	T	51458364	3	4	189	1	0	0	0	0	1	0	0	0	3964	652	23	1	838	1	CSRNP2	12	51458364	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8676	51458364	82393531	3176	101033											
SLC4A8	9498	broad.mit.edu	37	chr12	51882561	51882561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgatagctgcaattatcCcagctcttctctgtactatc	6	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:51882561C>A	uc001rys.1	+	18	2543	c.2365C>A	c.(2365-2367)CCA>ACA	p.P789T	SLC4A8_uc001rym.2_Missense_Mutation_p.P736T|SLC4A8_uc001ryn.2_Missense_Mutation_p.P736T|SLC4A8_uc001ryo.2_Missense_Mutation_p.P736T|SLC4A8_uc010snj.1_Missense_Mutation_p.P816T|SLC4A8_uc001ryr.2_Missense_Mutation_p.P789T	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	789	Helical; (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGCAATTATCCCAGCTCTTCT	0.423													A	51882561	C	A	51882561	3	1	189	1	0	0	0	0	1	0	0	0	14659	623	22	5	2435	5	SLC4A8	12	51882561	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	424197	51882561	81969334	3177	101034											
SCN8A	6334	broad.mit.edu	37	chr12	52156379	52156379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggttggaacatttttgaCggatttattgtctccctcag	10	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:52156379C>T	uc001ryw.2	+	15	2641	c.2463C>T	c.(2461-2463)GAC>GAT	p.D821D	SCN8A_uc010snl.1_Silent_p.D686D|SCN8A_uc001ryy.2_Silent_p.D686D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	821	Helical; Name=S3 of repeat II; (Potential).|II.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACATTTTTGACGGATTTATTG	0.418													T	52156379	C	T	52156379	2	4	189	1	0	0	0	0	0	0	0	1	13924	535	19	1		1	SCN8A	12	52156379	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	273818	52156379	81695516	3178	101035											
KRT80	144501	broad.mit.edu	37	chr12	52566892	52566892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatccgcgatctcgctgCggctgctctggaggctgctc	14	13	2	1	rs141107117		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:52566892C>T	uc001rzx.2	-	6	985	c.887G>A	c.(886-888)CGC>CAC	p.R296H	KRT80_uc001rzw.2_Missense_Mutation_p.R331H|KRT80_uc001rzy.2_Missense_Mutation_p.R296H	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	296	Rod.|Coil 2.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		GATCTCGCTGCGGCTGCTCTG	0.652													T	52566892	C	T	52566892	3	4	189	1	0	0	0	0	1	0	0	0	8494	768	27	1	522	1	KRT80	12	52566892	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	410513	52566892	81285003	3179	101036											
KRT83	3889	broad.mit.edu	37	chr12	52714818	52714818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgcactgcgcgttggggTctatctccaggttgaggggc	15	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:52714818T>C	uc001saf.2	-	1	365	c.302A>G	c.(301-303)GAC>GGC	p.D101G		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	101	Head.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCGTTGGGGTCTATCTCCAG	0.627													C	52714818	T	C	52714818	3	2	189	1	0	0	0	0	1	0	0	0	8497	1667	58	3	1215	3	KRT83	12	52714818	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	147926	52714818	81137077	3180	101037											
KRT82	3888	broad.mit.edu	37	chr12	52800051	52800051	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggagcctggctggaaagagTggtacgacatggcaggagag	18	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:52800051T>A	uc001sai.1	-	1	126	c.11A>T	c.(10-12)CAC>CTC	p.H4L		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	4	Head.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGAAAGAGTGGTACGACAT	0.577													A	52800051	T	A	52800051	3	1	189	1	0	0	0	0	1	0	0	0	8496	1696	59	5	1566	5	KRT82	12	52800051	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	85233	52800051	81051844	3181	101038											
KRT75	9119	broad.mit.edu	37	chr12	52822530	52822533	+	Splice_Site	DEL	GAGA	GAGA	-													gacctgcagctcctcgtactGagagaaccagagcaaaccca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:52822529_52822532TGAGA>T	uc001saj.2	-	6	1058	c.1036_splice	c.e6-1	p.Y346_splice		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	346	Coil 2.|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)		CTCCTCGTACTGAGAGAACCAGAG	0.554													-	52822533	GAGA	-	52822530	8	5	189	1	0	1	0	1	0	0	1	0	8488	1305	45	0		0	KRT75	12	52822530	Splice_Site	DEL	GAGA	TCGA-CG-5721-01A-11D-1600-08	22479	52822530	81029365	3182	101039											
KRT6A	3853	broad.mit.edu	37	chr12	52881872	52881872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgttgacttgtccaacGccttcgccattcagcctgtg	9	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:52881872G>A	uc001sam.2	-	8	1649	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	480	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTGTCCAACGCCTTCGCCAT	0.587													A	52881872	G	A	52881872	2	1	189	1	0	0	0	0	0	0	0	1	8480	1074	38	1		1	KRT6A	12	52881872	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	59342	52881872	80970023	3183	101040											
TENC1	23371	broad.mit.edu	37	chr12	53449467	53449467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgtggtcgtactatActgcaaggtgggccaggacc	13	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:53449467A>G	uc001sbp.2	+	9	824	c.689A>G	c.(688-690)TAC>TGC	p.Y230C	uc001sbk.1_5'Flank|TENC1_uc001sbl.2_Missense_Mutation_p.Y106C|TENC1_uc001sbm.2_Missense_Mutation_p.Y240C|TENC1_uc001sbn.2_Missense_Mutation_p.Y240C|TENC1_uc001sbo.1_Missense_Mutation_p.Y230C|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	230	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						GTCGTACTATACTGCAAGGTG	0.607													G	53449467	A	G	53449467	3	3	189	1	0	0	0	0	1	0	0	0	15755	391	14	3	832	3	TENC1	12	53449467	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	567595	53449467	80402428	3184	101041											
TENC1	23371	broad.mit.edu	37	chr12	53455004	53455004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcatcagtcaccatgTcaccttcgcacctctgctct	7	16	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:53455004T>C	uc001sbp.2	+	20	3449	c.3314T>C	c.(3313-3315)GTC>GCC	p.V1105A	TENC1_uc001sbl.2_Missense_Mutation_p.V981A|TENC1_uc001sbn.2_Missense_Mutation_p.V1115A|TENC1_uc001sbq.2_Missense_Mutation_p.V503A|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.V600A|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1105	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						AGTCACCATGTCACCTTCGCA	0.607													C	53455004	T	C	53455004	3	2	189	1	0	0	0	0	1	0	0	0	15755	1667	58	3	3501	3	TENC1	12	53455004	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5537	53455004	80396891	3185	101042											
TENC1	23371	broad.mit.edu	37	chr12	53456009	53456009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgaagatcaagggctGccccagtgagccctactttg	14	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:53456009G>A	uc001sbp.2	+	23	3782	c.3647G>A	c.(3646-3648)TGC>TAC	p.C1216Y	TENC1_uc001sbl.2_Missense_Mutation_p.C1092Y|TENC1_uc001sbn.2_Missense_Mutation_p.C1226Y|TENC1_uc001sbq.2_Missense_Mutation_p.C614Y|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.C711Y|TENC1_uc001sbs.2_5'UTR	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1216	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						ATCAAGGGCTGCCCCAGTGAG	0.602													A	53456009	G	A	53456009	3	1	189	1	0	0	0	0	1	0	0	0	15755	1319	46	2	3846	2	TENC1	12	53456009	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1005	53456009	80395886	3186	101043											
ESPL1	9700	broad.mit.edu	37	chr12	53671610	53671610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctggcttaacagctcagTccaaatgcctggaccaagcc	8	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:53671610T>C	uc001sck.2	+	11	2321	c.2230T>C	c.(2230-2232)TCC>CCC	p.S744P	ESPL1_uc001scj.2_Missense_Mutation_p.S419P|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	744					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			lung(1)|kidney(1)|skin(1)	3						AACAGCTCAGTCCAAATGCCT	0.562													C	53671610	T	C	53671610	3	2	189	1	0	0	0	0	1	0	0	0	5253	1667	58	3	2268	3	ESPL1	12	53671610	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	215601	53671610	80180285	3187	101044											
ESPL1	9700	broad.mit.edu	37	chr12	53677233	53677233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagagaagctggtctgCcacctgggccgcctgggtag	15	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:53677233C>T	uc001sck.2	+	16	3079	c.2988C>T	c.(2986-2988)TGC>TGT	p.C996C	ESPL1_uc001scj.2_Silent_p.C671C|ESPL1_uc010soe.1_Silent_p.C207C	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	996					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			lung(1)|kidney(1)|skin(1)	3						AGCTGGTCTGCCACCTGGGCC	0.507													T	53677233	C	T	53677233	2	4	189	1	0	0	0	0	0	0	0	1	5253	747	26	2		2	ESPL1	12	53677233	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5623	53677233	80174662	3188	101045											
C12orf10	60314	broad.mit.edu	37	chr12	53696953	53696953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactagtgaagaggacagCatggtgggcaccctctatga	14	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:53696953C>T	uc001scp.3	+	3	517	c.465C>T	c.(463-465)AGC>AGT	p.S155S	C12orf10_uc010sof.1_Silent_p.S155S|C12orf10_uc009zmx.2_Silent_p.S155S|C12orf10_uc001scq.3_Silent_p.S40S	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	MYG1 protein precursor	155										ovary(2)	2						AAGAGGACAGCATGGTGGGCA	0.607													T	53696953	C	T	53696953	2	4	189	1	0	0	0	0	0	0	0	1	1674	709	25	2		2	C12orf10	12	53696953	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	19720	53696953	80154942	3189	101046											
HOXC8	3224	broad.mit.edu	37	chr12	54403221	54403221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgcccggcttccagcaCgcttcgcaccacgttcaaga	10	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:54403221C>T	uc001ser.2	+	1	332	c.153C>T	c.(151-153)CAC>CAT	p.H51H		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	51						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTTCCAGCACGCTTCGCACC	0.662													T	54403221	C	T	54403221	2	4	189	1	0	0	0	0	0	0	0	1	7316	535	19	1		1	HOXC8	12	54403221	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	706268	54403221	79448674	3190	101047											
ITGA5	3678	broad.mit.edu	37	chr12	54799103	54799103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccacctcctgaggccGcccgtcaggggtccgatcca	11	19	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:54799103G>A	uc001sga.2	-	12	1140	c.1072C>T	c.(1072-1074)CGG>TGG	p.R358W	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	358	Extracellular (Potential).|FG-GAP 5.				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			ovary(2)	2						TCCTGAGGCCGCCCGTCAGGG	0.647													A	54799103	G	A	54799103	3	1	189	1	0	0	0	0	1	0	0	0	7879	1086	38	1	2153	1	ITGA5	12	54799103	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	395882	54799103	79052792	3191	101048											
KIAA0748	9840	broad.mit.edu	37	chr12	55356581	55356581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatcctctgctgtgtTtcctcttcacagcagaagac	9	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:55356581T>C	uc001sgn.3	-	9	1211	c.1101A>G	c.(1099-1101)GAA>GAG	p.E367E	KIAA0748_uc001sgl.3_Silent_p.E229E|KIAA0748_uc001sgm.3_Silent_p.E114E|KIAA0748_uc010spb.1_Silent_p.E114E|KIAA0748_uc010spc.1_Silent_p.E229E|KIAA0748_uc010spd.1_Silent_p.E367E|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	367										ovary(1)|central_nervous_system(1)	2						TCTGCTGTGTTTCCTCTTCAC	0.517													C	55356581	T	C	55356581	2	2	189	1	0	0	0	0	0	0	0	1	8190	1838	64	3		3	KIAA0748	12	55356581	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	557478	55356581	78495314	3192	101049											
ITGA7	3679	broad.mit.edu	37	chr12	56092633	56092633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacccttgtggttggcgcGgggggctccagccacaaagc	15	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56092633G>A	uc001shh.2	-	6	1091	c.871C>T	c.(871-873)CGC>TGC	p.R291C	ITGA7_uc001shg.2_Missense_Mutation_p.R287C|ITGA7_uc010sps.1_Missense_Mutation_p.R194C|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.R174C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	331	FG-GAP 4.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TGGTTGGCGCGGGGGGCTCCA	0.622													A	56092633	G	A	56092633	3	1	189	1	0	0	0	0	1	0	0	0	7881	1116	39	1	2634	1	ITGA7	12	56092633	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	736052	56092633	77759262	3193	101050											
DNAJC14	85406	broad.mit.edu	37	chr12	56221972	56221972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaaagctggagaggtAcagtggtggcaaaagttgct	13	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56221972A>G	uc001shx.1	-	2	675	c.471T>C	c.(469-471)TGT>TGC	p.C157C	DNAJC14_uc001shu.1_Silent_p.C157C|DNAJC14_uc009zob.1_Silent_p.C157C|DNAJC14_uc001shy.1_Silent_p.C157C	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	157					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						CTGGAGAGGTACAGTGGTGGC	0.483													G	56221972	A	G	56221972	2	3	189	1	0	0	0	0	0	0	0	1	4633	389	14	3		3	DNAJC14	12	56221972	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	129339	56221972	77629923	3194	101051											
IKZF4	64375	broad.mit.edu	37	chr12	56428913	56428913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggaagtgcttcgggTggtgggcgagagtggtgagc	19	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56428913T>C	uc001sjb.1	+	9	1715	c.1556T>C	c.(1555-1557)GTG>GCG	p.V519A	IKZF4_uc010sqa.1_Missense_Mutation_p.V472A|IKZF4_uc001sjc.1_Missense_Mutation_p.V519A|IKZF4_uc001sjd.1_Missense_Mutation_p.V417A|IKZF4_uc009zoi.1_Missense_Mutation_p.V474A|IKZF4_uc001sje.1_Missense_Mutation_p.V478A	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	519					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTGCTTCGGGTGGTGGGCGAG	0.617													C	56428913	T	C	56428913	3	2	189	1	0	0	0	0	1	0	0	0	7617	1696	59	3	1586	3	IKZF4	12	56428913	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	206941	56428913	77422982	3195	101052											
ERBB3	2065	broad.mit.edu	37	chr12	56481863	56481863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgtccacagcctcttgTctacaacaagctaactttcc	5	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56481863T>C	uc001sjh.2	+	7	984	c.791T>C	c.(790-792)GTC>GCC	p.V264A	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V205A|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	264	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGCCTCTTGTCTACAACAAG	0.512													C	56481863	T	C	56481863	3	2	189	1	0	0	0	0	1	0	0	0	5208	1667	58	3	948	3	ERBB3	12	56481863	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	52950	56481863	77370032	3196	101053											
PA2G4	5036	broad.mit.edu	37	chr12	56505008	56505008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttacagttctgctcatgcCcaatggccccatgcggataa	8	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56505008C>A	uc001sjm.2	+	11	1399	c.980C>A	c.(979-981)CCC>CAC	p.P327H	PA2G4_uc009zol.2_Missense_Mutation_p.P327H|PA2G4_uc009zom.2_Intron	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	327	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CTGCTCATGCCCAATGGCCCC	0.433													A	56505008	C	A	56505008	3	1	189	1	0	0	0	0	1	0	0	0	11361	623	22	5	1022	5	PA2G4	12	56505008	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23145	56505008	77346887	3197	101054											
ZC3H10	84872	broad.mit.edu	37	chr12	56515016	56515016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggccctcattttgagTcatatgaatatagtttggct	9	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56515016T>C	uc001sjp.1	+	3	859	c.670T>C	c.(670-672)TCA>CCA	p.S224P		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	224							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TCATTTTGAGTCATATGAATA	0.547													C	56515016	T	C	56515016	3	2	189	1	0	0	0	0	1	0	0	0	17556	1667	58	3	672	3	ZC3H10	12	56515016	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10008	56515016	77336879	3198	101055											
SMARCC2	6601	broad.mit.edu	37	chr12	56563585	56563585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctccatcactcttctcGgactccttctcactgtcgcc	7	17	5	0	rs148688009	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56563585G>A	uc001skb.2	-	23	2536	c.2430C>T	c.(2428-2430)TCC>TCT	p.S810S	SMARCC2_uc001skd.2_Silent_p.S841S|SMARCC2_uc001ska.2_Silent_p.S841S|SMARCC2_uc001skc.2_Silent_p.S840S|SMARCC2_uc010sqf.1_Silent_p.S730S	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	810	Glu-rich.				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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CACTCTTCTCGGACTCCTTCT	0.552													A	56563585	G	A	56563585	2	1	189	1	0	0	0	0	0	0	0	1	14776	1103	39	1		1	SMARCC2	12	56563585	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	48569	56563585	77288310	3199	101056											
SMARCC2	6601	broad.mit.edu	37	chr12	56565655	56565655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaatgcaagatgcactCgtcctgtgtgcggcttccca	10	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56565655C>T	uc001skb.2	-	20	2006	c.1900G>A	c.(1900-1902)GAG>AAG	p.E634K	SMARCC2_uc001skd.2_Missense_Mutation_p.E665K|SMARCC2_uc001ska.2_Missense_Mutation_p.E665K|SMARCC2_uc001skc.2_Missense_Mutation_p.E664K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E554K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	634	SANT.				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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATGCACTCGTCCTGTGTG	0.542													T	56565655	C	T	56565655	3	4	189	1	0	0	0	0	1	0	0	0	14776	893	31	1	1780	1	SMARCC2	12	56565655	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2070	56565655	77286240	3200	101057											
SMARCC2	6601	broad.mit.edu	37	chr12	56581046	56581046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgtagcaactgtacaacCaggctagacagggacttgtt	10	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56581046C>T	uc001skb.2	-	2	262	c.156G>A	c.(154-156)CTG>CTA	p.L52L	SMARCC2_uc001skd.2_Silent_p.L52L|SMARCC2_uc001ska.2_Silent_p.L52L|SMARCC2_uc001skc.2_Silent_p.L52L|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	52					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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ACTGTACAACCAGGCTAGACA	0.438													T	56581046	C	T	56581046	2	4	189	1	0	0	0	0	0	0	0	1	14776	581	21	4		4	SMARCC2	12	56581046	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	15391	56581046	77270849	3201	101058											
SMARCC2	6601	broad.mit.edu	37	chr12	56583145	56583145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcgtaccttcttgtagTtcttgccgagccacagccgc	10	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56583145T>C	uc001skb.2	-	1	207	c.101A>G	c.(100-102)AAC>AGC	p.N34S	SMARCC2_uc001skd.2_Missense_Mutation_p.N34S|SMARCC2_uc001ska.2_Missense_Mutation_p.N34S|SMARCC2_uc001skc.2_Missense_Mutation_p.N34S|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	34					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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTTCTTGTAGTTCTTGCCGAG	0.498													C	56583145	T	C	56583145	3	2	189	1	0	0	0	0	1	0	0	0	14776	1725	60	3	3752	3	SMARCC2	12	56583145	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2099	56583145	77268750	3202	101059											
SLC39A5	283375	broad.mit.edu	37	chr12	56628733	56628733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccgcgtctgcatcggCgctccggcccctgcaccccc	11	21	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56628733C>T	uc010sqj.1	+	6	854	c.597C>T	c.(595-597)GGC>GGT	p.G199G	SLC39A5_uc010sqi.1_Silent_p.G90G|SLC39A5_uc010sqk.1_Silent_p.G199G	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	199	Extracellular (By similarity).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCTGCATCGGCGCTCCGGCCC	0.607													T	56628733	C	T	56628733	2	4	189	1	0	0	0	0	0	0	0	1	14621	755	27	1		1	SLC39A5	12	56628733	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	45588	56628733	77223162	3203	101060											
PAN2	9924	broad.mit.edu	37	chr12	56713165	56713165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaatgtcaatgagaaaaCgaagctttaagtaggtagac	9	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56713165C>T	uc001skx.2	-	23	3582	c.3209G>A	c.(3208-3210)CGT>CAT	p.R1070H	PAN2_uc001skw.2_Missense_Mutation_p.R218H|PAN2_uc001skz.2_Missense_Mutation_p.R1069H|PAN2_uc001sky.2_Missense_Mutation_p.R1066H	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	1070	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			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AATGAGAAAACGAAGCTTTAA	0.453													T	56713165	C	T	56713165	3	4	189	1	0	0	0	0	1	0	0	0	11414	536	19	1	415	1	PAN2	12	56713165	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	84432	56713165	77138730	3204	101061											
PAN2	9924	broad.mit.edu	37	chr12	56717655	56717655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggtccaggcagatgcttCgcttcagcacctgagcaaag	11	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56717655C>T	uc001skx.2	-	14	2493	c.2120G>A	c.(2119-2121)CGA>CAA	p.R707Q	PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.R706Q|PAN2_uc001sky.2_Missense_Mutation_p.R703Q	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	707					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			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GCAGATGCTTCGCTTCAGCAC	0.512													T	56717655	C	T	56717655	3	4	189	1	0	0	0	0	1	0	0	0	11414	884	31	1	1540	1	PAN2	12	56717655	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4490	56717655	77134240	3205	101062											
STAT2	6773	broad.mit.edu	37	chr12	56742817	56742817	+	Frame_Shift_Del	DEL	G	G	-													agcaagctccagggggccttGggggggttggagaagaactg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:56742816_56742816TG>T	uc001slc.3	-	16	1671	c.1468_1468CA>A	c.(1468-1470)aagfs	p.K490fs	STAT2_uc001slb.3_Frame_Shift_Del_p.K32fs|STAT2_uc001sld.3_Frame_Shift_Del_p.K486fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	490					JAK-STAT cascade|interspecies interaction between organisms|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	DNA binding|calcium ion 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						CAGGGGGCCTTGGGGGGGTTG	0.592													-	56742817	G	-	56742817	7	5	189	1	0	1	0	1	0	0	0	0	15264	1335	47	0	1120	0	STAT2	12	56742817	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	25162	56742817	77109078	3206	101063											
BAZ2A	11176	broad.mit.edu	37	chr12	57005600	57005600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtgatctcttccacGtcagcagtggtttctagaaa	8	11	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57005600G>A	uc001slq.1	-	6	1766	c.1572C>T	c.(1570-1572)GAC>GAT	p.D524D	BAZ2A_uc001slp.1_Silent_p.D522D|BAZ2A_uc009zow.1_Silent_p.D492D	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	524					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				0						TCTCTTCCACGTCAGCAGTGG	0.498													A	57005600	G	A	57005600	2	1	189	1	0	0	0	0	0	0	0	1	1331	1136	40	1		1	BAZ2A	12	57005600	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	262783	57005600	76846295	3207	101064											
PTGES3	10728	broad.mit.edu	37	chr12	57060033	57060033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctacatcctcatcaccAcccatgttgttcatcatcta	2	14	6	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57060033A>G	uc001slu.3	-	6	688	c.393T>C	c.(391-393)GGT>GGC	p.G131G	PTGES3_uc001slw.3_RNA|PTGES3_uc010sqs.1_Silent_p.G98G|PTGES3_uc001slv.3_Silent_p.G101G|PTGES3_uc010sqt.1_Intron|PTGES3_uc009zox.2_RNA	NM_006601	NP_006592	Q15185	TEBP_HUMAN	prostaglandin-E synthase 3	131	Asp/Glu-rich.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding				0						CCTCATCACCACCCATGTTGT	0.294													G	57060033	A	G	57060033	2	3	189	1	0	0	0	0	0	0	0	1	12748	146	6	3		3	PTGES3	12	57060033	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	54433	57060033	76791862	3208	101065											
NACA	4666	broad.mit.edu	37	chr12	57107367	57107367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgaagcagggctcttgTagacatctggttttgtgatg	12	6	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57107367T>C	uc001slz.2	-	5	684	c.335A>G	c.(334-336)TAC>TGC	p.Y112C	NACA_uc001sly.2_Missense_Mutation_p.Y112C|NACA_uc009zoy.1_Missense_Mutation_p.Y1975C|NACA_uc001smc.2_Missense_Mutation_p.Y112C|NACA_uc001sma.2_Missense_Mutation_p.Y822C|NACA_uc001smb.2_Missense_Mutation_p.Y112C|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	112	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						AGGGCTCTTGTAGACATCTGG	0.388			T	BCL6	NHL								C	57107367	T	C	57107367	3	2	189	1	0	0	0	0	1	0	0	0	10133	1638	57	3	328	3	NACA	12	57107367	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	47334	57107367	76744528	3209	101066											
PRIM1	5557	broad.mit.edu	37	chr12	57135217	57135217	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttagtttccttgtgtagtAcctgttttaggatgaacact	8	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57135217A>G	uc001smd.2	-	9	1046	c.982_splice	c.e9+1	p.G328_splice		NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1						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				0						CTTGTGTAGTACCTGTTTTAG	0.353													G	57135217	A	G	57135217	5	3	189	1	0	0	0	0	0	0	1	0	12490	405	14	3	298	3	PRIM1	12	57135217	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	27850	57135217	76716678	3210	101067											
GPR182	11318	broad.mit.edu	37	chr12	57389660	57389660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcggtggccctgtccaccAccatcctgggcttcctgctg	12	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57389660A>G	uc001smk.2	+	2	761	c.667A>G	c.(667-669)ACC>GCC	p.T223A	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	223	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CCTGTCCACCACCATCCTGGG	0.637													G	57389660	A	G	57389660	3	3	189	1	0	0	0	0	1	0	0	0	6677	159	6	3	669	3	GPR182	12	57389660	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	254443	57389660	76462235	3211	101068											
ZBTB39	9880	broad.mit.edu	37	chr12	57397714	57397714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcattctctccaaaagccaActcatcctcactgtcatcac	3	16	6	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57397714A>G	uc001sml.1	-	2	1074	c.988T>C	c.(988-990)TTG>CTG	p.L330L	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						CCAAAAGCCAACTCATCCTCA	0.512													G	57397714	A	G	57397714	2	3	189	1	0	0	0	0	0	0	0	1	17537	40	2	3		3	ZBTB39	12	57397714	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8054	57397714	76454181	3212	101069											
STAT6	6778	broad.mit.edu	37	chr12	57499295	57499295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccagccggccagtcagCgatgcccgggtcttgggctc	13	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57499295C>T	uc009zpe.2	-	8	1019	c.768G>A	c.(766-768)TCG>TCA	p.S256S	STAT6_uc009zpf.2_Silent_p.S256S|STAT6_uc001sna.2_Silent_p.S256S|STAT6_uc010srb.1_Silent_p.S146S|STAT6_uc010src.1_Silent_p.S146S|STAT6_uc010srd.1_Silent_p.S146S|STAT6_uc009zpg.2_Silent_p.S305S	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	256					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			ovary(2)|lung(1)|skin(1)	4						GGCCAGTCAGCGATGCCCGGG	0.612													T	57499295	C	T	57499295	2	4	189	1	0	0	0	0	0	0	0	1	15269	755	27	1		1	STAT6	12	57499295	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	101581	57499295	76352600	3213	101070											
LRP1	4035	broad.mit.edu	37	chr12	57532311	57532311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatctcaaagggctggcGgtgcgacggtgagagggact	17	8	1	1	rs146149784	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57532311G>A	uc001snd.2	+	2	603	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	LRP1_uc010sre.1_Missense_Mutation_p.R46Q|LRP1_uc001snb.2_Missense_Mutation_p.R46Q|LRP1_uc001snc.1_Missense_Mutation_p.R46Q	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	46	LDL-receptor class A 1.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAGGGCTGGCGGTGCGACGGT	0.507													A	57532311	G	A	57532311	3	1	189	1	0	0	0	0	1	0	0	0	8951	1116	39	1	143	1	LRP1	12	57532311	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	33016	57532311	76319584	3214	101071											
LRP1	4035	broad.mit.edu	37	chr12	57556256	57556256	+	Frame_Shift_Del	DEL	C	C	-													cccttctgcgcagtgagcggCcccccatctttgagatccga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57556255_57556255GC>G	uc001snd.3	+	13	2824	c.2358_2358GC>G	c.(2356-2358)cggfs	p.R786fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	786					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	GCAGTGAGCGGCCCCCCATCT	0.612													-	57556256	C	-	57556256	7	5	189	1	0	1	0	1	0	0	0	0	8951	739	26	0	2413	0	LRP1	12	57556256	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	23945	57556256	76295639	3215	101072											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-													cgtttgcagtgacgctgtacGggggggaggtctactggact					rs139915490		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57572241_57572241CG>C	uc001snd.3	+	26	4927	c.4461_4461CG>C	c.(4459-4461)tacfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	TGACGCTGTACGGGGGGGAGG	0.592													-	57572242	G	-	57572242	7	5	189	1	0	1	0	1	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	15986	57572242	76279653	3216	101073											
INHBC	3626	broad.mit.edu	37	chr12	57843705	57843705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcatgctgtgtacccaCggcccggcgccccctgtctc	12	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57843705C>T	uc001snv.1	+	2	1086	c.959C>T	c.(958-960)ACG>ATG	p.T320M		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	320					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						TGTGTACCCACGGCCCGGCGC	0.557													T	57843705	C	T	57843705	3	4	189	1	0	0	0	0	1	0	0	0	7743	536	19	1	965	1	INHBC	12	57843705	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	271463	57843705	76008190	3217	101074											
DDIT3	1649	broad.mit.edu	37	chr12	57910686	57910686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatttcctgcttgagccgtTcattctcttcagctagctgt	8	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57910686T>C	uc001soi.2	-	4	596	c.416A>G	c.(415-417)GAA>GGA	p.E139G	MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.E162G|DDIT3_uc009zpt.2_Missense_Mutation_p.E162G	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	139	Leucine-zipper.				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		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						CTTGAGCCGTTCATTCTCTTC	0.522			T	FUS	liposarcoma								C	57910686	T	C	57910686	3	2	189	1	0	0	0	0	1	0	0	0	4330	1783	62	3	97	3	DDIT3	12	57910686	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	66981	57910686	75941209	3218	101075											
DDIT3	1649	broad.mit.edu	37	chr12	57911081	57911081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggtgaaacataggTacccccattttcatctgaag	9	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57911081T>C	uc001soi.2	-	3	289	c.109A>G	c.(109-111)ACC>GCC	p.T37A	MARS_uc001sof.1_RNA|DDIT3_uc009zps.2_Missense_Mutation_p.T60A|DDIT3_uc009zpt.2_Missense_Mutation_p.T60A	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	37					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		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						GAAACATAGGTACCCCCATTT	0.473			T	FUS	liposarcoma								C	57911081	T	C	57911081	3	2	189	1	0	0	0	0	1	0	0	0	4330	1638	57	3	408	3	DDIT3	12	57911081	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	395	57911081	75940814	3219	101076											
KIF5A	3798	broad.mit.edu	37	chr12	57963058	57963058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagctatgttccatatcGtgacagcaaaatgacaagga	9	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:57963058G>A	uc001sor.1	+	10	1047	c.839G>A	c.(838-840)CGT>CAT	p.R280H	KIF5A_uc010srr.1_Missense_Mutation_p.R191H	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	280	Kinesin-motor.|Microtubule-binding.		R -> H (in SPG10; complicated form).|R -> L (in SPG10; pure form).|R -> C (in SPG10).	R->S: Strongly reduces microtubule affinity; slightly reduces gliding velocity.	blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						GTTCCATATCGTGACAGCAAA	0.458													A	57963058	G	A	57963058	3	1	189	1	0	0	0	0	1	0	0	0	8305	1145	40	1	877	1	KIF5A	12	57963058	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	51977	57963058	75888837	3220	101077											
AGAP2	116986	broad.mit.edu	37	chr12	58124631	58124631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagcccgttaatgctggCtgaggggccaaaggcagaga	16	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:58124631C>T	uc001spq.2	-	11	2251	c.2251G>A	c.(2251-2253)GCC>ACC	p.A751T	AGAP2_uc001spp.2_Missense_Mutation_p.A751T|AGAP2_uc001spr.2_Missense_Mutation_p.A415T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	751	PH.				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			central_nervous_system(3)|breast(2)	5						TTAATGCTGGCTGAGGGGCCA	0.592													T	58124631	C	T	58124631	3	4	189	1	0	0	0	0	1	0	0	0	368	797	28	2	1363	2	AGAP2	12	58124631	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	161573	58124631	75727264	3221	101078											
AVIL	10677	broad.mit.edu	37	chr12	58193644	58193644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaacagaactgctatAgggtaatattttggctcact	7	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:58193644A>G	uc001sqj.1	-	18	2309	c.2280T>C	c.(2278-2280)CCT>CCC	p.P760P	AVIL_uc009zqe.1_Silent_p.P753P	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	760	Headpiece (By similarity).|HP.				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GAACTGCTATAGGGTAATATT	0.448													G	58193644	A	G	58193644	2	3	189	1	0	0	0	0	0	0	0	1	1227	407	15	3		3	AVIL	12	58193644	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	69013	58193644	75658251	3222	101079											
XRCC6BP1	91419	broad.mit.edu	37	chr12	58350647	58350647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagagactttgaaaacCgtgatcggtattattcaaat	7	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:58350647C>T	uc001sqp.2	+	6	755	c.715C>T	c.(715-717)CGT>TGT	p.R239C		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	239					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1						CTTTGAAAACCGTGATCGGTA	0.328													T	58350647	C	T	58350647	3	4	189	1	0	0	0	0	1	0	0	0	17455	652	23	1	737	1	XRCC6BP1	12	58350647	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	157003	58350647	75501248	3223	101080											
USP15	9958	broad.mit.edu	37	chr12	62777633	62777633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttacagacacaggtaggaCgttttgcacctcagttctct	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:62777633C>T	uc001src.1	+	10	1111	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	USP15_uc001srb.1_Missense_Mutation_p.R339C	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	368					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAGGTAGGACGTTTTGCACC	0.323													T	62777633	C	T	62777633	3	4	189	1	0	0	0	0	1	0	0	0	17043	536	19	1	1049	1	USP15	12	62777633	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4426986	62777633	71074262	3224	101081											
MON2	23041	broad.mit.edu	37	chr12	62949836	62949836	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcagacaaagaaaagatTgagtctggaggtggcaatat	12	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:62949836T>C	uc001sre.2	+	25	3664	c.3273T>C	c.(3271-3273)ATT>ATC	p.I1091I	MON2_uc009zqj.2_Silent_p.I1091I|MON2_uc010ssl.1_Silent_p.I1019I|MON2_uc010ssm.1_Silent_p.I1068I|MON2_uc010ssn.1_Silent_p.I1091I|MON2_uc001srf.2_Silent_p.I854I	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1092					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AAGAAAAGATTGAGTCTGGAG	0.413													C	62949836	T	C	62949836	2	2	189	1	0	0	0	0	0	0	0	1	9700	1800	63	3		3	MON2	12	62949836	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	172203	62949836	70902059	3225	101082											
AVPR1A	552	broad.mit.edu	37	chr12	63544060	63544060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatcatggagaagacgaagTactgcggcgtgctcagcacg	14	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:63544060T>C	uc001sro.1	-	1	2531	c.557A>G	c.(556-558)TAC>TGC	p.Y186C		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	186	Helical; Name=4; (Potential).				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				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GAAGACGAAGTACTGCGGCGT	0.647													C	63544060	T	C	63544060	3	2	189	1	0	0	0	0	1	0	0	0	1231	1638	57	3	707	3	AVPR1A	12	63544060	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	594224	63544060	70307835	3226	101083											
DPY19L2	283417	broad.mit.edu	37	chr12	64061918	64061918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcgccagggaattacGgacgaactggaaggggccga	17	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:64061918G>A	uc001srp.1	-	1	437	c.256C>T	c.(256-258)CGT>TGT	p.R86C	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	86					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGGGAATTACGGACGAACTGG	0.607													A	64061918	G	A	64061918	3	1	189	1	0	0	0	0	1	0	0	0	4741	1116	39	1	2108	1	DPY19L2	12	64061918	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	517858	64061918	69789977	3227	101084											
HELB	92797	broad.mit.edu	37	chr12	66704385	66704385	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcctacacactgtgTcaggtaaaacctttgacatt	6	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:66704385T>C	uc001sti.2	+	4	1705	c.1677T>C	c.(1675-1677)TGT>TGC	p.C559C	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	559					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACACACTGTGTCAGGTAAAAC	0.308													C	66704385	T	C	66704385	2	2	189	1	0	0	0	0	0	0	0	1	7045	1673	58	3		3	HELB	12	66704385	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2642467	66704385	67147510	3228	101085											
CAND1	55832	broad.mit.edu	37	chr12	67691600	67691600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgaattaagagagtActgtattcaagcctttgaat	9	4	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:67691600A>G	uc001stn.2	+	6	1258	c.821A>G	c.(820-822)TAC>TGC	p.Y274C	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	274	HEAT 7.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			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)		TTAAGAGAGTACTGTATTCAA	0.289													G	67691600	A	G	67691600	3	3	189	1	0	0	0	0	1	0	0	0	2615	391	14	3	843	3	CAND1	12	67691600	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	987215	67691600	66160295	3229	101086											
CAND1	55832	broad.mit.edu	37	chr12	67692747	67692747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtcctaaggaagtatAtcctcatgtttctaccatta	6	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:67692747A>G	uc001stn.2	+	7	1309	c.872A>G	c.(871-873)TAT>TGT	p.Y291C	CAND1_uc001sto.2_Translation_Start_Site	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	291	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			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)		AAGGAAGTATATCCTCATGTT	0.264													G	67692747	A	G	67692747	3	3	189	1	0	0	0	0	1	0	0	0	2615	449	16	3	898	3	CAND1	12	67692747	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1147	67692747	66159148	3230	101087											
DYRK2	8445	broad.mit.edu	37	chr12	68051408	68051408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaggtggtcaaggcctacGatcacaaagtccaccagcac	11	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:68051408G>A	uc001str.3	+	3	1123	c.721G>A	c.(721-723)GAT>AAT	p.D241N	DYRK2_uc001sts.3_Missense_Mutation_p.D168N	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	241	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			ovary(2)|breast(1)|central_nervous_system(1)	4			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)		CAAGGCCTACGATCACAAAGT	0.577													A	68051408	G	A	68051408	3	1	189	1	0	0	0	0	1	0	0	0	4856	1058	37	1	731	1	DYRK2	12	68051408	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	358661	68051408	65800487	3231	101088											
DYRK2	8445	broad.mit.edu	37	chr12	68052075	68052075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctccaagggttatccccGttactgcactgtcacgactc	9	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:68052075G>A	uc001str.3	+	3	1790	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	DYRK2_uc001sts.3_Missense_Mutation_p.R390H	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	463	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			ovary(2)|breast(1)|central_nervous_system(1)	4			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)		GGTTATCCCCGTTACTGCACT	0.557													A	68052075	G	A	68052075	3	1	189	1	0	0	0	0	1	0	0	0	4856	1145	40	1	1398	1	DYRK2	12	68052075	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	667	68052075	65799820	3232	101089											
IL26	55801	broad.mit.edu	37	chr12	68619014	68619014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaattgcagttgaccaaaaAcgtcttccatgaagaaggac	9	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:68619014A>G	uc001stx.1	-	3	313	c.278T>C	c.(277-279)GTT>GCT	p.V93A		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	93					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTGACCAAAAACGTCTTCCAT	0.358													G	68619014	A	G	68619014	3	3	189	1	0	0	0	0	1	0	0	0	7679	43	2	3	249	3	IL26	12	68619014	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	566939	68619014	65232881	3233	101090											
MDM1	56890	broad.mit.edu	37	chr12	68720795	68720795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataaaacttggctctttcGtgatgcctacaaaacacggt	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:68720795G>A	uc001stz.2	-	3	276	c.140C>T	c.(139-141)ACG>ATG	p.T47M	MDM1_uc010stc.1_Missense_Mutation_p.T47M|MDM1_uc009zqv.1_Intron|MDM1_uc001sua.3_Missense_Mutation_p.T47M|MDM1_uc010std.1_3'UTR	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	47						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGGCTCTTTCGTGATGCCTAC	0.363													A	68720795	G	A	68720795	3	1	189	1	0	0	0	0	1	0	0	0	9412	1145	40	1	2223	1	MDM1	12	68720795	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	101781	68720795	65131100	3234	101091											
MDM2	4193	broad.mit.edu	37	chr12	69233299	69233299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaatgatgataaaatTacacaagcttcacaatcaca	6	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:69233299T>C	uc001sui.2	+	11	1451	c.1164T>C	c.(1162-1164)ATT>ATC	p.I388I	MDM2_uc009zri.2_Silent_p.I343I|MDM2_uc009zqx.2_Silent_p.I333I|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Silent_p.I207I|MDM2_uc009zqz.2_Silent_p.I335I|MDM2_uc009zra.2_Silent_p.I186I|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Silent_p.I72I|MDM2_uc009zrc.2_Silent_p.I72I|MDM2_uc009zre.2_Silent_p.I129I|MDM2_uc009zrf.2_Silent_p.I72I|MDM2_uc001suo.2_Silent_p.I182I|MDM2_uc009zrg.2_Silent_p.I104I|MDM2_uc009zrh.2_Silent_p.I156I	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	382	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGATAAAATTACACAAGCTT	0.353			A		sarcoma|glioma|colorectal|other								C	69233299	T	C	69233299	2	2	189	1	0	0	0	0	0	0	0	1	9413	1742	61	3		3	MDM2	12	69233299	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	512504	69233299	64618596	3235	101092											
LGR5	8549	broad.mit.edu	37	chr12	71976241	71976241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgtgctgcagatgaaCgtgaccttgaagatttcctg	10	9	1	5	rs145133989		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:71976241C>T	uc001swl.2	+	17	1606	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	LGR5_uc001swm.2_Missense_Mutation_p.R496C|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	520	Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TGCAGATGAACGTGACCTTGA	0.463													T	71976241	C	T	71976241	3	4	189	1	0	0	0	0	1	0	0	0	8757	536	19	1	1624	1	LGR5	12	71976241	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2742942	71976241	61875654	3236	101093											
ZFC3H1	196441	broad.mit.edu	37	chr12	72008422	72008422	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactaaatcagtaaaaaattTgaattcttgaactttgtttc	4	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:72008422T>A	uc001swo.2	-	30	5778	c.5419A>T	c.(5419-5421)AAA>TAA	p.K1807*		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1807	HAT 5.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GTAAAAAATTTGAATTCTTGA	0.338													A	72008422	T	A	72008422	4	1	189	1	0	0	0	0	0	1	0	0	17630	1821	63	5	574	5	ZFC3H1	12	72008422	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	32181	72008422	61843473	3237	101094											
CAPS2	84698	broad.mit.edu	37	chr12	75685541	75685541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttgaattgctttgaagAccagcctatcattggtttct	7	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:75685541A>G	uc001sxk.3	-	14	1477	c.1280T>C	c.(1279-1281)GTC>GCC	p.V427A	CAPS2_uc001sxm.3_Missense_Mutation_p.V195A|CAPS2_uc009zsa.2_Missense_Mutation_p.V17A|CAPS2_uc001sxi.3_Missense_Mutation_p.V163A|CAPS2_uc001sxj.3_Missense_Mutation_p.V338A|CAPS2_uc001sxl.3_Missense_Mutation_p.V408A	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	427							calcium ion binding			ovary(2)	2						TGCTTTGAAGACCAGCCTATC	0.323													G	75685541	A	G	75685541	3	3	189	1	0	0	0	0	1	0	0	0	2638	275	10	3	413	3	CAPS2	12	75685541	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3677119	75685541	58166354	3238	101095											
E2F7	144455	broad.mit.edu	37	chr12	77440086	77440086	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacatttacaatgtcAtagatgcgtctcctttccac	5	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:77440086A>G	uc001sym.3	-	5	797	c.561T>C	c.(559-561)TAT>TAC	p.Y187Y	E2F7_uc001syn.2_Silent_p.Y187Y	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	187	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TTACAATGTCATAGATGCGTC	0.493													G	77440086	A	G	77440086	2	3	189	1	0	0	0	0	0	0	0	1	4872	224	8	3		3	E2F7	12	77440086	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1754545	77440086	56411809	3239	101096											
E2F7	144455	broad.mit.edu	37	chr12	77449892	77449892	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcggggccatccttgatcGatcaacaaatatattttcct	6	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:77449892G>A	uc001sym.3	-	3	348	c.112C>T	c.(112-114)CGA>TGA	p.R38*	E2F7_uc001syn.2_Nonsense_Mutation_p.R38*	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	38					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						ATCCTTGATCGATCAACAAAT	0.333													A	77449892	G	A	77449892	4	1	189	1	0	0	0	0	0	1	0	0	4872	1066	37	1	2667	1	E2F7	12	77449892	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	9806	77449892	56402003	3240	101097											
NAV3	89795	broad.mit.edu	37	chr12	78562562	78562562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttatagaactaagagaaAccattgaaatgctgaaggct	8	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:78562562A>G	uc001syp.2	+	24	5070	c.4897A>G	c.(4897-4899)ACC>GCC	p.T1633A	NAV3_uc001syo.2_Missense_Mutation_p.T1633A|NAV3_uc010sub.1_Missense_Mutation_p.T1119A|NAV3_uc009zsf.2_Missense_Mutation_p.T464A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1633	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACTAAGAGAAACCATTGAAAT	0.408										HNSCC(70;0.22)			G	78562562	A	G	78562562	3	3	189	1	0	0	0	0	1	0	0	0	10185	43	2	3	4991	3	NAV3	12	78562562	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1112670	78562562	55289333	3241	101098											
LIN7A	8825	broad.mit.edu	37	chr12	81239535	81239535	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttcactgatagcagctggtCtcctcttttgaggcctccgt	10	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:81239535C>T	uc001szj.1	-	4	650	c.457G>A	c.(457-459)GAC>AAC	p.D153N	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	153	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						AGCAGCTGGTCTCCTCTTTTG	0.423													T	81239535	C	T	81239535	3	4	189	1	0	0	0	0	1	0	0	0	8810	913	32	4	252	4	LIN7A	12	81239535	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2676973	81239535	52612360	3242	101099											
PPFIA2	8499	broad.mit.edu	37	chr12	81675044	81675044	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacacctaccgatggaaActatccaccatttttaaatg	4	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:81675044A>G	uc001szo.1	-	27	3365	c.3204T>C	c.(3202-3204)AGT>AGC	p.S1068S	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	967										ovary(3)|lung(2)|pancreas(1)	6						ACCGATGGAAACTATCCACCA	0.313													G	81675044	A	G	81675044	2	3	189	1	0	0	0	0	0	0	0	1	12310	40	2	3		3	PPFIA2	12	81675044	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	435509	81675044	52176851	3243	101100											
PPFIA2	8499	broad.mit.edu	37	chr12	81688654	81688654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggacttgttagggaaAccatctcctggattgctaat	10	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:81688654A>G	uc001szo.1	-	24	3046	c.2885T>C	c.(2884-2886)GTT>GCT	p.V962A	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	888										ovary(3)|lung(2)|pancreas(1)	6						TGTTAGGGAAACCATCTCCTG	0.468													G	81688654	A	G	81688654	3	3	189	1	0	0	0	0	1	0	0	0	12310	43	2	3	924	3	PPFIA2	12	81688654	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	13610	81688654	52163241	3244	101101											
TMTC2	160335	broad.mit.edu	37	chr12	83290084	83290084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcattaaaaacgatgTatcacagagaacccagcttc	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:83290084T>C	uc001szt.2	+	3	1574	c.1142T>C	c.(1141-1143)GTA>GCA	p.V381A	TMTC2_uc001szr.1_Missense_Mutation_p.V381A|TMTC2_uc001szs.1_Missense_Mutation_p.V381A|TMTC2_uc010suk.1_Missense_Mutation_p.V136A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	381						endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						AAAAACGATGTATCACAGAGA	0.403													C	83290084	T	C	83290084	3	2	189	1	0	0	0	0	1	0	0	0	16258	1638	57	3	1152	3	TMTC2	12	83290084	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1601430	83290084	50561811	3245	101102											
SLC6A15	55117	broad.mit.edu	37	chr12	85279318	85279318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaatgatgacgttgtagTagagagctacaaaatagcac	10	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:85279318T>C	uc001szv.2	-	4	963	c.470A>G	c.(469-471)TAC>TGC	p.Y157C	SLC6A15_uc010sul.1_Missense_Mutation_p.Y50C|SLC6A15_uc001szy.2_Missense_Mutation_p.Y157C	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	157	Helical; Name=3; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						GACGTTGTAGTAGAGAGCTAC	0.368													C	85279318	T	C	85279318	3	2	189	1	0	0	0	0	1	0	0	0	14678	1638	57	3	1872	3	SLC6A15	12	85279318	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1989234	85279318	48572577	3246	101103											
LRRIQ1	84125	broad.mit.edu	37	chr12	85439837	85439837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaatttatgagaagtAaaaccgattgtgccactcct	8	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:85439837A>G	uc001tac.2	+	5	487	c.376A>G	c.(376-378)AAA>GAA	p.K126E	LRRIQ1_uc001tab.1_Missense_Mutation_p.K126E|LRRIQ1_uc001taa.1_Missense_Mutation_p.K126E|LRRIQ1_uc001tad.2_Missense_Mutation_p.K34E	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	126										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TATGAGAAGTAAAACCGATTG	0.348													G	85439837	A	G	85439837	3	3	189	1	0	0	0	0	1	0	0	0	9029	363	13	3	390	3	LRRIQ1	12	85439837	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	160519	85439837	48412058	3247	101104											
C12orf29	91298	broad.mit.edu	37	chr12	88436611	88436611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttttttagatcagccatAcctttgggctcgactagata	7	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:88436611A>G	uc001tao.2	+	3	376	c.218A>G	c.(217-219)TAC>TGC	p.Y73C	C12orf29_uc001tap.2_RNA|C12orf29_uc009zsk.2_RNA	NM_001009894	NP_001009894	Q8N999	CL029_HUMAN	hypothetical protein LOC91298	73											0						GATCAGCCATACCTTTGGGCT	0.303													G	88436611	A	G	88436611	3	3	189	1	0	0	0	0	1	0	0	0	1680	391	14	3	228	3	C12orf29	12	88436611	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2996774	88436611	45415284	3248	101105											
KITLG	4254	broad.mit.edu	37	chr12	88939540	88939540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttacttaccaatttagtgaCgtcttttacattattagtca	4	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:88939540C>A	uc001tav.2	-	2	301	c.118G>T	c.(118-120)GTC>TTC	p.V40F	KITLG_uc001taw.2_Missense_Mutation_p.V40F	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	40	Extracellular (Potential).				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			ovary(1)	1						AATTTAGTGACGTCTTTTACA	0.373									Testicular_Cancer_Familial_Clustering_of				A	88939540	C	A	88939540	3	1	189	1	0	0	0	0	1	0	0	0	8330	536	19	5	735	5	KITLG	12	88939540	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	502929	88939540	44912355	3249	101106											
PLXNC1	10154	broad.mit.edu	37	chr12	94654559	94654559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgagacgcacggagtcCgtcgtcgaaaaactcctcac	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:94654559C>T	uc001tdc.2	+	20	3642	c.3393C>T	c.(3391-3393)TCC>TCT	p.S1131S	PLXNC1_uc010sut.1_Silent_p.S178S|PLXNC1_uc009zsv.2_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1131	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GCACGGAGTCCGTCGTCGAAA	0.512													T	94654559	C	T	94654559	2	4	189	1	0	0	0	0	0	0	0	1	12126	639	23	1		1	PLXNC1	12	94654559	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5715019	94654559	39197336	3250	101107											
FGD6	55785	broad.mit.edu	37	chr12	95488366	95488366	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaggagaaaacaatAcctcatcaagactcctacta	4	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:95488366A>G	uc001tdp.3	-	15	3824	c.3600_splice	c.e15+1	p.E1200_splice	FGD6_uc009zsx.2_Splice_Site_p.E333_splice|FGD6_uc001tdq.1_Splice_Site_p.E236_splice	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6						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			ovary(2)|breast(1)	3						AGAAAACAATACCTCATCAAG	0.373													G	95488366	A	G	95488366	5	3	189	1	0	0	0	0	0	0	1	0	5837	405	14	3	718	3	FGD6	12	95488366	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	833807	95488366	38363529	3251	101108											
FGD6	55785	broad.mit.edu	37	chr12	95546740	95546740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccttggcaatatgatgAactttacttttcattccatt	4	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:95546740A>G	uc001tdp.3	-	4	2840	c.2616T>C	c.(2614-2616)GTT>GTC	p.V872V	FGD6_uc009zsx.2_Silent_p.V5V	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	872	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			ovary(2)|breast(1)	3						CAATATGATGAACTTTACTTT	0.353													G	95546740	A	G	95546740	2	3	189	1	0	0	0	0	0	0	0	1	5837	233	9	3		3	FGD6	12	95546740	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	58374	95546740	38305155	3252	101109											
USP44	84101	broad.mit.edu	37	chr12	95927368	95927368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactatttctattatggtcGactgagcgagcccttgtaaa	8	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:95927368G>A	uc001teg.2	-	2	809	c.665C>T	c.(664-666)TCG>TTG	p.S222L	USP44_uc001teh.2_Missense_Mutation_p.S222L|USP44_uc009zte.2_Missense_Mutation_p.S219L	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	222					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			lung(1)|breast(1)|central_nervous_system(1)	3						TATTATGGTCGACTGAGCGAG	0.403													A	95927368	G	A	95927368	3	1	189	1	0	0	0	0	1	0	0	0	17072	1059	37	1	1493	1	USP44	12	95927368	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	380628	95927368	37924527	3253	101110											
CCDC38	120935	broad.mit.edu	37	chr12	96263270	96263270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaacctttttctttggTtgtgctactgctttttccag	6	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:96263270T>C	uc001tek.1	-	15	1800	c.1566A>G	c.(1564-1566)CAA>CAG	p.Q522Q		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	522	Potential.									skin(1)	1						TTTTCTTTGGTTGTGCTACTG	0.348													C	96263270	T	C	96263270	2	2	189	1	0	0	0	0	0	0	0	1	2810	1722	60	3		3	CCDC38	12	96263270	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	335902	96263270	37588625	3254	101111											
LTA4H	4048	broad.mit.edu	37	chr12	96407035	96407035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttgattgagaacatcaAcctatgaatagtaagaattc	6	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:96407035A>G	uc001ten.1	-	14	1378	c.1310T>C	c.(1309-1311)GTT>GCT	p.V437A	LTA4H_uc010suy.1_Missense_Mutation_p.V399A|LTA4H_uc010suz.1_Missense_Mutation_p.V399A|LTA4H_uc010sva.1_RNA|LTA4H_uc009ztj.2_RNA	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	437					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(1)	1						GAGAACATCAACCTATGAATA	0.363													G	96407035	A	G	96407035	3	3	189	1	0	0	0	0	1	0	0	0	9069	57	2	3	549	3	LTA4H	12	96407035	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	143765	96407035	37444860	3255	101112											
FAM71C	196472	broad.mit.edu	37	chr12	100042499	100042499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaggcttacagtgatAccagggctatcctagctggg	14	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:100042499A>G	uc001tgn.2	+	1	969	c.547A>G	c.(547-549)ACC>GCC	p.T183A	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	183											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TTACAGTGATACCAGGGCTAT	0.512													G	100042499	A	G	100042499	3	3	189	1	0	0	0	0	1	0	0	0	5609	391	14	3	549	3	FAM71C	12	100042499	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3635464	100042499	33809396	3256	101113											
NR1H4	9971	broad.mit.edu	37	chr12	100930827	100930827	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaaaaaagctaccaggTattttttaaataatcaaagt	4	6	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:100930827T>C	uc001tht.1	+	6	989	c.961_splice	c.e6+2	p.G321_splice	NR1H4_uc001thp.1_Splice_Site_p.G307_splice|NR1H4_uc001thq.1_Splice_Site_p.G311_splice|NR1H4_uc010svj.1_Splice_Site|NR1H4_uc001thr.1_Splice_Site_p.G311_splice|NR1H4_uc010svk.1_Splice_Site_p.G260_splice|NR1H4_uc001ths.1_Splice_Site_p.G317_splice	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4						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			ovary(1)|lung(1)|skin(1)	3						AGCTACCAGGTATTTTTTAaa	0.174													C	100930827	T	C	100930827	5	2	189	1	0	0	0	0	0	0	1	0	10619	1652	57	3	943	3	NR1H4	12	100930827	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	888328	100930827	32921068	3257	101114											
ANO4	121601	broad.mit.edu	37	chr12	101336279	101336279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagtatttgaaagaaAcattagagcagaaggattgc	12	3	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:101336279A>G	uc010svm.1	+	5	994	c.422A>G	c.(421-423)AAC>AGC	p.N141S	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.N106S|ANO4_uc001thx.2_Missense_Mutation_p.N141S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	141	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TTTGAAAGAAACATTAGAGCA	0.343										HNSCC(74;0.22)			G	101336279	A	G	101336279	3	3	189	1	0	0	0	0	1	0	0	0	699	43	2	3	327	3	ANO4	12	101336279	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	405452	101336279	32515616	3258	101115											
ANO4	121601	broad.mit.edu	37	chr12	101381332	101381332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggatcgataaacaaatAagcaggtttcggagatggtt	11	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:101381332A>G	uc010svm.1	+	8	1190	c.618A>G	c.(616-618)ATA>ATG	p.I206M	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.I171M|ANO4_uc001thx.2_Missense_Mutation_p.I206M	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	206	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						ATAAACAAATAAGCAGGTTTC	0.517										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	101381332	A	G	101381332	3	3	189	1	0	0	0	0	1	0	0	0	699	352	13	3	535	3	ANO4	12	101381332	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	45053	101381332	32470563	3259	101116											
GNPTAB	79158	broad.mit.edu	37	chr12	102158613	102158613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatttaccaggggaatTttcacctcttcctgggctct	8	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:102158613T>C	uc001tit.2	-	13	2261	c.2082A>G	c.(2080-2082)AAA>AAG	p.K694K		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	694					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						CCAGGGGAATTTTCACCTCTT	0.423													C	102158613	T	C	102158613	2	2	189	1	0	0	0	0	0	0	0	1	6545	1838	64	3		3	GNPTAB	12	102158613	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	777281	102158613	31693282	3260	101117											
PAH	5053	broad.mit.edu	37	chr12	103306669	103306669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttgtcttcaatatagCttgtttcctacaggataaga	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:103306669C>A	uc001tjq.1	-	3	540	c.68G>T	c.(67-69)AGC>ATC	p.S23I	PAH_uc010swc.1_Missense_Mutation_p.S23I	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	23					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTCAATATAGCTTGTTTCCTA	0.373													A	103306669	C	A	103306669	3	1	189	1	0	0	0	0	1	0	0	0	11394	797	28	5	1338	5	PAH	12	103306669	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1148056	103306669	30545226	3261	101118											
STAB2	55576	broad.mit.edu	37	chr12	104067847	104067847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccacgccacctgtgaatAcagcaatgggacagccaggt	10	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:104067847A>G	uc001tjw.2	+	23	2720	c.2534A>G	c.(2533-2535)TAC>TGC	p.Y845C		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	845	Extracellular (Potential).|EGF-like 7.				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			ovary(9)|skin(5)	14						ACCTGTGAATACAGCAATGGG	0.547													G	104067847	A	G	104067847	3	3	189	1	0	0	0	0	1	0	0	0	15237	391	14	3	2624	3	STAB2	12	104067847	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	761178	104067847	29784048	3262	101119											
HSP90B1	7184	broad.mit.edu	37	chr12	104340627	104340627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttgaaacagcaacgcttCggtcagggtatcttttacca	9	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:104340627C>T	uc001tkb.1	+	16	2275	c.2170C>T	c.(2170-2172)CGG>TGG	p.R724W	HSP90B1_uc010swg.1_Missense_Mutation_p.R389W|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	724					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			ovary(2)|skin(1)	3					Rifabutin(DB00615)	AGCAACGCTTCGGTCAGGGTA	0.368													T	104340627	C	T	104340627	3	4	189	1	0	0	0	0	1	0	0	0	7403	875	31	1	2232	1	HSP90B1	12	104340627	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	272780	104340627	29511268	3263	101120											
TDG	6996	broad.mit.edu	37	chr12	104373688	104373689	+	Frame_Shift_Ins	INS	-	-	A													ccaaaaaacctgttgagtcaINSaaaaaatctggcaagtctgc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:104373687_104373688C>CA	uc001tkg.3	+	2	468_469	c.245_246C>CA	c.(244-246)tcafs	p.S82fs	TDG_uc010swh.1_Frame_Shift_Ins_p.S82fs|TDG_uc009zuk.3_Frame_Shift_Ins_p.S78fs|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	82					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)		CCTGTTGAGTCAAAAAAATCTG	0.332								Base excision repair (BER), DNA glycosylases					A	104373689	-	A	104373688	7	5	189	1	0	1	1	0	0	0	0	0	15722	117	5	0	256	0	TDG	12	104373688	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	33061	104373688	29478207	3264	101121											
GLT8D2	83468	broad.mit.edu	37	chr12	104388210	104388210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccaggattgaaagagcAggtgctggggctgatgccaa	14	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:104388210A>G	uc001tkh.1	-	9	1076	c.670T>C	c.(670-672)TGC>CGC	p.C224R	GLT8D2_uc001tki.1_Missense_Mutation_p.C224R	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	224	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						TTGAAAGAGCAGGTGCTGGGG	0.478													G	104388210	A	G	104388210	3	3	189	1	0	0	0	0	1	0	0	0	6470	188	7	3	391	3	GLT8D2	12	104388210	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14522	104388210	29463685	3265	101122											
APPL2	55198	broad.mit.edu	37	chr12	105622983	105622983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcatcttcttcaaacaCgctcagtaaagagcgagtct	8	12	5	1	rs143353224		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:105622983C>T	uc001tlf.1	-	2	291	c.73G>A	c.(73-75)GTG>ATG	p.V25M	APPL2_uc010swt.1_Translation_Start_Site|APPL2_uc001tlg.1_Translation_Start_Site|APPL2_uc010swu.1_Missense_Mutation_p.V25M|APPL2_uc009zuq.2_Translation_Start_Site	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	25	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						TCTTCAAACACGCTCAGTAAA	0.502													T	105622983	C	T	105622983	3	4	189	1	0	0	0	0	1	0	0	0	818	536	19	1	2001	1	APPL2	12	105622983	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1234773	105622983	28228912	3266	101123											
CKAP4	10970	broad.mit.edu	37	chr12	106633587	106633587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagccgctccgtgtcggCcgcctccttgaaagcctgct	13	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:106633587C>T	uc001tlk.2	-	2	1108	c.1024G>A	c.(1024-1026)GCC>ACC	p.A342T		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	342	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						TCCGTGTCGGCCGCCTCCTTG	0.637													T	106633587	C	T	106633587	3	4	189	1	0	0	0	0	1	0	0	0	3444	739	26	2	788	2	CKAP4	12	106633587	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1010604	106633587	27218308	3267	101124											
POLR3B	55703	broad.mit.edu	37	chr12	106773822	106773822	+	Frame_Shift_Del	DEL	A	A	-													ctcatagctctacccatgagAaaaaaagcagaaccaatatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:106773821_106773821GA>G	uc001tlp.3	+	8	849	c.627_627GA>G	c.(625-627)gagfs	p.E209fs	POLR3B_uc001tlq.3_Frame_Shift_Del_p.E151fs	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	209					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						CTACCCATGAGAAAAAAAGCA	0.333													-	106773822	A	-	106773822	7	5	189	1	0	1	0	1	0	0	0	0	12229	247	9	0	662	0	POLR3B	12	106773822	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	140235	106773822	27078073	3268	101125											
RIC8B	55188	broad.mit.edu	37	chr12	107208622	107208622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatatgcagatactgctgcGactagccaagctaaatgagt	9	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:107208622G>A	uc001tlx.2	+	3	406	c.281G>A	c.(280-282)CGA>CAA	p.R94Q	RIC8B_uc001tlw.2_Missense_Mutation_p.R94Q|RIC8B_uc001tly.2_Missense_Mutation_p.R54Q|RIC8B_uc001tlz.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	94					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						ATACTGCTGCGACTAGCCAAG	0.398													A	107208622	G	A	107208622	3	1	189	1	0	0	0	0	1	0	0	0	13356	1058	37	1	291	1	RIC8B	12	107208622	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	434800	107208622	26643273	3269	101126											
CRY1	1407	broad.mit.edu	37	chr12	107386601	107386601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggactttaggaccaatActctgtgtgtcctcttcctg	8	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:107386601A>G	uc001tmi.3	-	12	2584	c.1725T>C	c.(1723-1725)AGT>AGC	p.S575S		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	575					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						TAGGACCAATACTCTGTGTGT	0.368													G	107386601	A	G	107386601	2	3	189	1	0	0	0	0	0	0	0	1	3903	388	14	3		3	CRY1	12	107386601	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	177979	107386601	26465294	3270	101127											
BTBD11	121551	broad.mit.edu	37	chr12	108008873	108008874	+	Frame_Shift_Ins	INS	-	-	C													ataaatatccatccgtccacINScccgagacccgccattggac					rs76689600		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:108008872_108008873A>AC	uc001tmk.1	+	6	2455_2456	c.1934_1935A>AC	c.(1933-1935)cacfs	p.H645fs	BTBD11_uc009zut.1_Frame_Shift_Ins_p.H645fs|BTBD11_uc001tmj.3_Frame_Shift_Ins_p.H645fs|BTBD11_uc001tml.1_Frame_Shift_Ins_p.H182fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	645						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATCCGTCCACCCCGAGACCC	0.411													C	108008874	-	C	108008873	7	5	189	1	0	1	1	0	0	0	0	0	1539	506	18	0	2066	0	BTBD11	12	108008873	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	622272	108008873	25843022	3271	101128											
SART3	9733	broad.mit.edu	37	chr12	108941702	108941702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcaaagaggtcatacaCgtgctctctgtccaggccat	8	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:108941702C>T	uc001tmz.1	-	3	740	c.505G>A	c.(505-507)GTG>ATG	p.V169M	SART3_uc009zux.1_Translation_Start_Site|SART3_uc010swx.1_Missense_Mutation_p.V169M|SART3_uc010swy.1_Missense_Mutation_p.V37M|SART3_uc010swz.1_Missense_Mutation_p.V169M|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	169	HAT 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						AGGTCATACACGTGCTCTCTG	0.463									Porokeratosis				T	108941702	C	T	108941702	3	4	189	1	0	0	0	0	1	0	0	0	13847	536	19	1	2454	1	SART3	12	108941702	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	932829	108941702	24910193	3272	101129											
USP30	84749	broad.mit.edu	37	chr12	109520724	109520724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgaagcggcatgagcAcgtgcagttcaatgagttcc	12	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:109520724A>G	uc010sxi.1	+	11	1129	c.1025A>G	c.(1024-1026)CAC>CGC	p.H342R	USP30_uc001tnu.3_Missense_Mutation_p.H311R|USP30_uc001tnw.3_Missense_Mutation_p.H59R	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	342	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						CGGCATGAGCACGTGCAGTTC	0.537													G	109520724	A	G	109520724	3	3	189	1	0	0	0	0	1	0	0	0	17058	159	6	3	1067	3	USP30	12	109520724	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	579022	109520724	24331171	3273	101130											
ACACB	32	broad.mit.edu	37	chr12	109685423	109685423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaagggatttaaatacCtgtacctgactccccaagac	6	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:109685423C>A	uc001tob.2	+	40	5703	c.5584C>A	c.(5584-5586)CTG>ATG	p.L1862M	ACACB_uc001toc.2_Missense_Mutation_p.L1862M|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.L528M	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1862	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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ATTTAAATACCTGTACCTGAC	0.423													A	109685423	C	A	109685423	3	1	189	1	0	0	0	0	1	0	0	0	107	680	24	5	5738	5	ACACB	12	109685423	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	164699	109685423	24166472	3274	101131											
KCTD10	83892	broad.mit.edu	37	chr12	109898554	109898554	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	taaaggcaccgccccgtctcGaaggtagttgagtatcgtac	11	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:109898554G>C	uc001toi.1	-	3	362	c.274C>G	c.(274-276)CGA>GGA	p.R92G	KCTD10_uc001toh.1_5'Flank|KCTD10_uc009zvi.1_Missense_Mutation_p.R89G|KCTD10_uc001toj.1_Missense_Mutation_p.R100G|KCTD10_uc001tok.1_Intron	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	92	BTB.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						GCCCCGTCTCGAAGGTAGTTG	0.597													C	109898554	G	C	109898554	3	2	189	1	0	0	0	0	1	0	0	0	8097	1066	37	5	687	5	KCTD10	12	109898554	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	213131	109898554	23953341	3275	101132											
KCTD10	83892	broad.mit.edu	37	chr12	109907348	109907349	+	Frame_Shift_Ins	INS	-	-	C													cggtgagcacttccatgcgcINSccgctgaacatggccttcag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:109907347_109907348G>GC	uc001toj.1	-	1	1926_1927	c.213_214C>GC	c.(211-216)gggcgcfs	p.G71fs	KCTD10_uc009zvi.1_Frame_Shift_Ins_p.G60fs|KCTD10_uc001toi.1_Frame_Shift_Ins_p.G63fs|KCTD10_uc001tok.1_5'UTR	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	63	BTB.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ACTTCCATGCGCCCGCTGAACA	0.559													C	109907349	-	C	109907348	7	5	189	1	0	1	1	0	0	0	0	0	8097	726	26	0	776	0	KCTD10	12	109907348	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	8794	109907348	23944547	3276	101133											
TRPV4	59341	broad.mit.edu	37	chr12	110226519	110226519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttcaggagggagaccaGggctgtgggaggataggggt	22	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:110226519G>A	uc001tpj.1	-	12	1989	c.1894C>T	c.(1894-1896)CTG>TTG	p.L632L	TRPV4_uc001tpg.1_Silent_p.L598L|TRPV4_uc001tph.1_Silent_p.L585L|TRPV4_uc001tpi.1_Silent_p.L525L|TRPV4_uc001tpk.1_Silent_p.L632L|TRPV4_uc001tpl.1_Silent_p.L572L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	632	Helical; (Potential).				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGGGAGACCAGGGCTGTGGGA	0.453													A	110226519	G	A	110226519	2	1	189	1	0	0	0	0	0	0	0	1	16595	991	35	4		4	TRPV4	12	110226519	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	319171	110226519	23625376	3277	101134											
PPTC7	160760	broad.mit.edu	37	chr12	110989605	110989605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacttaccgagcaaagggActttattttgcagcaactca	7	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:110989605A>G	uc001trh.1	-	2	620	c.392T>C	c.(391-393)GTC>GCC	p.V131A		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	T-cell activation protein phosphatase 2C	131	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity				0						GAGCAAAGGGACTTTATTTTG	0.408													G	110989605	A	G	110989605	3	3	189	1	0	0	0	0	1	0	0	0	12413	275	10	3	542	3	PPTC7	12	110989605	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	763086	110989605	22862290	3278	101135											
TCTN1	79600	broad.mit.edu	37	chr12	111057695	111057695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtgacatcaactgctGctgtgatcccgactgcagct	10	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:111057695G>A	uc009zvs.2	+	2	383	c.275G>A	c.(274-276)TGC>TAC	p.C92Y	TCTN1_uc010syb.1_Missense_Mutation_p.C92Y|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.C32Y|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.C92Y|TCTN1_uc001trn.3_Missense_Mutation_p.C92Y|TCTN1_uc001tri.2_Missense_Mutation_p.C36Y|TCTN1_uc001trj.1_Missense_Mutation_p.C36Y|TCTN1_uc001trk.3_RNA	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	92	Cys-rich.				multicellular organismal development	extracellular region					0						ATCAACTGCTGCTGTGATCCC	0.473													A	111057695	G	A	111057695	3	1	189	1	0	0	0	0	1	0	0	0	15719	1319	46	2	381	2	TCTN1	12	111057695	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	68090	111057695	22794200	3279	101136											
CCDC63	160762	broad.mit.edu	37	chr12	111317711	111317711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatggccctttcaacaggTcactgttcactttgacaaga	8	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:111317711T>C	uc001trv.1	+	6	686	c.491T>C	c.(490-492)GTC>GCC	p.V164A	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.V124A|CCDC63_uc001trw.1_Missense_Mutation_p.V79A	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	164	Potential.									skin(6)|ovary(1)|pancreas(1)	8						TTTCAACAGGTCACTGTTCAC	0.473													C	111317711	T	C	111317711	3	2	189	1	0	0	0	0	1	0	0	0	2834	1681	58	3	509	3	CCDC63	12	111317711	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	260016	111317711	22534184	3280	101137											
MYL2	4633	broad.mit.edu	37	chr12	111356998	111356998	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgctttcttaggtgcCtgggggaaaaaagcatcgat	11	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:111356998C>A	uc001try.3	-	2	75	c.4_splice	c.e2-1	p.A2_splice	MYL2_uc001trx.3_Translation_Start_Site	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2						cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TCTTAGGTGCCTGGGGGAAAA	0.517													A	111356998	C	A	111356998	5	1	189	1	0	0	0	0	0	0	1	0	10047	695	24	5	521	5	MYL2	12	111356998	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	39287	111356998	22494897	3281	101138											
ACAD10	80724	broad.mit.edu	37	chr12	112193508	112193508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccatgattaaaatggtcGccccgtccatggcctcccga	9	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:112193508G>A	uc001tsq.2	+	20	3198	c.2998G>A	c.(2998-3000)GCC>ACC	p.A1000T	ACAD10_uc009zvx.2_Missense_Mutation_p.A1031T|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	1000							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TAAAATGGTCGCCCCGTCCAT	0.527													A	112193508	G	A	112193508	3	1	189	1	0	0	0	0	1	0	0	0	108	1087	38	1	3169	1	ACAD10	12	112193508	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	836510	112193508	21658387	3282	101139											
ALDH2	217	broad.mit.edu	37	chr12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-													aagagagtgaccttggagctGggggggaagagccccaacat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:112229926_112229926TG>T	uc001tst.3	+	7	953	c.857_857TG>T	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Del_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAG	0.572			T	HMGA2	leiomyoma								-	112229927	G	-	112229927	7	5	189	1	0	1	0	1	0	0	0	0	496	1335	47	0	888	0	ALDH2	12	112229927	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	36419	112229927	21621968	3283	101140											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112305379	112305379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgttctctttaaggtaCgtctgcacatgatgtgtgcc	9	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:112305379C>T	uc001tta.2	+	4	449	c.190C>T	c.(190-192)CGT>TGT	p.R64C	MAPKAPK5_uc001tsz.2_Missense_Mutation_p.R64C|MAPKAPK5_uc001ttb.2_Translation_Start_Site	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	64	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3						CTTTAAGGTACGTCTGCACAT	0.403													T	112305379	C	T	112305379	3	4	189	1	0	0	0	0	1	0	0	0	9291	536	19	1	204	1	MAPKAPK5	12	112305379	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	75452	112305379	21546516	3284	101141											
ERP29	10961	broad.mit.edu	37	chr12	112460247	112460247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataacctctcaagtgtgaagGagactcagaagaagtgggcc	12	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:112460247G>A	uc001ttk.1	+	3	695	c.577G>A	c.(577-579)GAG>AAG	p.E193K	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	193					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0						AAGTGTGAAGGAGACTCAGAA	0.572													A	112460247	G	A	112460247	3	1	189	1	0	0	0	0	1	0	0	0	5242	1175	41	4	587	4	ERP29	12	112460247	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	154868	112460247	21391648	3285	101142											
RPH3A	22895	broad.mit.edu	37	chr12	113306354	113306354	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcctgctgcccctgaAcagcctgctcctgagcccaa	10	16	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:113306354A>G	uc010syl.1	+	8	926	c.564A>G	c.(562-564)GAA>GAG	p.E188E	RPH3A_uc001ttz.2_Silent_p.E188E|RPH3A_uc001tty.2_Silent_p.E184E|RPH3A_uc009zwe.1_Silent_p.E184E|RPH3A_uc010sym.1_Silent_p.E139E|RPH3A_uc001tua.2_5'UTR	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	188	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTGCCCCTGAACAGCCTGCTC	0.577													G	113306354	A	G	113306354	2	3	189	1	0	0	0	0	0	0	0	1	13551	40	2	3		3	RPH3A	12	113306354	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	846107	113306354	20545541	3286	101143											
OAS1	4938	broad.mit.edu	37	chr12	113354471	113354471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagcaactctgcatctActggacaaagtattatgact	6	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:113354471A>G	uc001tud.2	+	4	918	c.812A>G	c.(811-813)TAC>TGC	p.Y271C	OAS1_uc010syn.1_Missense_Mutation_p.Y270C|OAS1_uc010syo.1_3'UTR|OAS1_uc001tub.2_Missense_Mutation_p.Y271C|OAS1_uc001tuc.2_Missense_Mutation_p.Y271C|OAS1_uc009zwf.2_Missense_Mutation_p.Y270C	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	271					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			ovary(2)	2						CTCTGCATCTACTGGACAAAG	0.453													G	113354471	A	G	113354471	3	3	189	1	0	0	0	0	1	0	0	0	10799	391	14	3	826	3	OAS1	12	113354471	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	48117	113354471	20497424	3287	101144											
DTX1	1840	broad.mit.edu	37	chr12	113532900	113532900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctacggggagaagacgggTacgcagccgcctgggaagat	16	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:113532900T>C	uc001tuk.1	+	7	1776	c.1440T>C	c.(1438-1440)GGT>GGC	p.G480G		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	480					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			lung(2)|ovary(1)|central_nervous_system(1)	4						AGAAGACGGGTACGCAGCCGC	0.647													C	113532900	T	C	113532900	2	2	189	1	0	0	0	0	0	0	0	1	4793	1625	57	3		3	DTX1	12	113532900	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	178429	113532900	20318995	3288	101145											
DDX54	79039	broad.mit.edu	37	chr12	113612693	113612693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccttcagctgctcgTtgagcttggtatccacgtca	9	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:113612693T>C	uc001tup.2	-	9	951	c.923A>G	c.(922-924)AAC>AGC	p.N308S	DDX54_uc001tuq.3_Missense_Mutation_p.N308S	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	308					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			skin(2)|central_nervous_system(1)	3						CAGCTGCTCGTTGAGCTTGGT	0.627											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	113612693	T	C	113612693	3	2	189	1	0	0	0	0	1	0	0	0	4372	1725	60	3	1773	3	DDX54	12	113612693	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	79793	113612693	20239202	3289	101146											
IQCD	115811	broad.mit.edu	37	chr12	113645894	113645894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagctggccttttagaTgggtctgtctttggccctat	12	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:113645894T>C	uc001tuv.1	-	2	500	c.78A>G	c.(76-78)CCA>CCG	p.P26P	IQCD_uc001tuu.2_Silent_p.P26P	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	26										ovary(1)	1						GCCTTTTAGATGGGTCTGTCT	0.517													C	113645894	T	C	113645894	2	2	189	1	0	0	0	0	0	0	0	1	7805	1451	51	3		3	IQCD	12	113645894	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	33201	113645894	20206001	3290	101147											
TPCN1	53373	broad.mit.edu	37	chr12	113723763	113723763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgtcttccggatggaActtgtgagtggacagcatgt	13	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:113723763A>G	uc001tuw.2	+	18	1820	c.1523A>G	c.(1522-1524)AAC>AGC	p.N508S	TPCN1_uc001tux.2_Missense_Mutation_p.N580S|TPCN1_uc010syt.1_Missense_Mutation_p.N440S	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	508	Helical; Name=S3 of repeat II; (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						TCCGGATGGAACTTGTGAGTG	0.567													G	113723763	A	G	113723763	3	3	189	1	0	0	0	0	1	0	0	0	16392	43	2	3	1809	3	TPCN1	12	113723763	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	77869	113723763	20128132	3291	101148											
TPCN1	53373	broad.mit.edu	37	chr12	113730874	113730874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccagatggagagatAccaggtgaggagcccaggcc	13	13	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:113730874A>G	uc001tuw.2	+	26	2546	c.2249A>G	c.(2248-2250)TAC>TGC	p.Y750C	TPCN1_uc001tux.2_Missense_Mutation_p.Y822C|TPCN1_uc010syu.1_5'Flank	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	750	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						ATGGAGAGATACCAGGTGAGG	0.587													G	113730874	A	G	113730874	3	3	189	1	0	0	0	0	1	0	0	0	16392	391	14	3	2567	3	TPCN1	12	113730874	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7111	113730874	20121021	3292	101149											
RBM19	9904	broad.mit.edu	37	chr12	114397151	114397151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcattcgcccaagtggctGcctgcgcccgcctctgatga	10	16	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:114397151G>A	uc009zwi.2	-	5	581	c.437C>T	c.(436-438)GCA>GTA	p.A146V	RBM19_uc001tvn.3_Missense_Mutation_p.A146V|RBM19_uc001tvm.2_Missense_Mutation_p.A146V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	146					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCAAGTGGCTGCCTGCGCCCG	0.597													A	114397151	G	A	114397151	3	1	189	1	0	0	0	0	1	0	0	0	13121	1319	46	2	2525	2	RBM19	12	114397151	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	666277	114397151	19454744	3293	101150											
TBX5	6910	broad.mit.edu	37	chr12	114841604	114841604	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgacggggacttgctgggggCcccgagcgcgctctcgggtt	18	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:114841604C>G	uc001tvo.2	-	2	595	c.100G>C	c.(100-102)GCC>CCC	p.A34P	TBX5_uc001tvp.2_Missense_Mutation_p.A34P|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.A34P	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	34				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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGCTGGGGGCCCCGAGCGCG	0.657													G	114841604	C	G	114841604	3	3	189	1	0	0	0	0	1	0	0	0	15658	739	26	5	1555	5	TBX5	12	114841604	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	444453	114841604	19010291	3294	101151											
TBX3	6926	broad.mit.edu	37	chr12	115117308	115117308	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaagccccttgagtttAccttatcattctggtatgca	8	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:115117308A>G	uc001tvt.1	-	4	1828	c.864_splice	c.e4+1	p.K288_splice	TBX3_uc001tvu.1_Splice_Site_p.K268_splice	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2						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			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCTTGAGTTTACCTTATCATT	0.413													G	115117308	A	G	115117308	5	3	189	1	0	0	0	0	0	0	1	0	15656	405	14	3	1385	3	TBX3	12	115117308	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	275704	115117308	18734587	3295	101152											
MED13L	23389	broad.mit.edu	37	chr12	116457117	116457117	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaagcccttgctgcccAactgcaatgtggcctccagc	8	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:116457117A>G	uc001tvw.2	-	7	976	c.921T>C	c.(919-921)GTT>GTC	p.V307V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	307					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTGCTGCCCAACTGCAATGT	0.532													G	116457117	A	G	116457117	2	3	189	1	0	0	0	0	0	0	0	1	9431	117	5	3		3	MED13L	12	116457117	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1339809	116457117	17394778	3296	101153											
NOS1	4842	broad.mit.edu	37	chr12	117723943	117723943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggatcctgcccacacagCgcgaggcattccgccaggcg	12	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:117723943C>T	uc001twm.1	-	6	1942	c.1256G>A	c.(1255-1257)CGC>CAC	p.R419H		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	419					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			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCACACAGCGCGAGGCATT	0.557													T	117723943	C	T	117723943	3	4	189	1	0	0	0	0	1	0	0	0	10541	768	27	1	3144	1	NOS1	12	117723943	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1266826	117723943	16127952	3297	101154											
KSR2	283455	broad.mit.edu	37	chr12	117962945	117962945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggccttgcgtgggaagCtccgggccgagaggagggac	20	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:117962945C>T	uc001two.2	-	14	1899	c.1844G>A	c.(1843-1845)AGC>AAC	p.S615N		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	644					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGTGGGAAGCTCCGGGCCGA	0.587													T	117962945	C	T	117962945	3	4	189	1	0	0	0	0	1	0	0	0	8582	797	28	2	949	2	KSR2	12	117962945	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	239002	117962945	15888950	3298	101155											
TAOK3	51347	broad.mit.edu	37	chr12	118590074	118590074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagacactctctgctcTagcttctggagctcacgttc	9	14	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:118590074T>C	uc001twx.2	-	20	2788	c.2493A>G	c.(2491-2493)CTA>CTG	p.L831L	TAOK3_uc001twv.2_Silent_p.L371L|TAOK3_uc001tww.2_Silent_p.L661L|TAOK3_uc001twy.3_Silent_p.L831L	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	831	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTCTGCTCTAGCTTCTGGA	0.562													C	118590074	T	C	118590074	2	2	189	1	0	0	0	0	0	0	0	1	15546	1509	53	3		3	TAOK3	12	118590074	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	627129	118590074	15261821	3299	101156											
CIT	11113	broad.mit.edu	37	chr12	120142198	120142198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatttgctgaggttttcGttgtagcggagaatgacgac	13	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:120142198G>A	uc001txi.1	-	40	5201	c.5148C>T	c.(5146-5148)AAC>AAT	p.N1716N	CIT_uc001txh.1_Silent_p.N1235N|CIT_uc001txj.1_Silent_p.N1758N	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1716	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGGTTTTCGTTGTAGCGGA	0.512													A	120142198	G	A	120142198	2	1	189	1	0	0	0	0	0	0	0	1	3438	1136	40	1		1	CIT	12	120142198	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1552124	120142198	13709697	3300	101157											
GCN1L1	10985	broad.mit.edu	37	chr12	120567101	120567101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacacctcttcaccctgCcgcatcttgaggaggttgac	9	13	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:120567101C>T	uc001txo.2	-	57	7882	c.7869G>A	c.(7867-7869)CGG>CGA	p.R2623R		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2623	HEAT 24.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCACCCTGCCGCATCTTGA	0.517													T	120567101	C	T	120567101	2	4	189	1	0	0	0	0	0	0	0	1	6299	726	26	2		2	GCN1L1	12	120567101	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	424903	120567101	13284794	3301	101158											
GCN1L1	10985	broad.mit.edu	37	chr12	120575062	120575062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctttgctctcgttccctAtgagccggatttccttgtgc	9	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:120575062A>G	uc001txo.2	-	50	6738	c.6725T>C	c.(6724-6726)ATA>ACA	p.I2242T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2242					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGTTCCCTATGAGCCGGAT	0.572													G	120575062	A	G	120575062	3	3	189	1	0	0	0	0	1	0	0	0	6299	449	16	3	1326	3	GCN1L1	12	120575062	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7961	120575062	13276833	3302	101159											
GCN1L1	10985	broad.mit.edu	37	chr12	120582814	120582814	+	Frame_Shift_Del	DEL	C	C	-													caagtcctcaaagcacgactCccccatgcccttcaccatgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:120582813_120582813TC>T	uc001txo.3	-	39	5082	c.5069_5069GA>A	c.(5068-5070)gagfs	p.E1690fs		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1690					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)					AAAGCACGACTCCCCCATGCC	0.582													-	120582814	C	-	120582814	7	5	189	1	0	1	0	1	0	0	0	0	6299	864	30	0	3023	0	GCN1L1	12	120582814	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	7752	120582814	13269081	3303	101160											
GCN1L1	10985	broad.mit.edu	37	chr12	120593173	120593173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcctcatgatagatcaCgtcgtcaatcagcaaggagc	10	12	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:120593173C>T	uc001txo.2	-	30	3515	c.3502G>A	c.(3502-3504)GTG>ATG	p.V1168M		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1168					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGATAGATCACGTCGTCAATC	0.602													T	120593173	C	T	120593173	3	4	189	1	0	0	0	0	1	0	0	0	6299	536	19	1	4629	1	GCN1L1	12	120593173	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10359	120593173	13258722	3304	101161											
RNF34	80196	broad.mit.edu	37	chr12	121858092	121858092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaagatgatgatgacgaCgatgatgaggatgatgatga	14	3	0	10			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:121858092C>T	uc001ual.1	+	4	795	c.681C>T	c.(679-681)GAC>GAT	p.D227D	RNF34_uc001uak.1_Silent_p.D228D|RNF34_uc001uam.1_Silent_p.D227D	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	227	Asp-rich.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		atgatgacgacgatgatgagg	0.338													T	121858092	C	T	121858092	2	4	189	1	0	0	0	0	0	0	0	1	13489	535	19	1		1	RNF34	12	121858092	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1264919	121858092	11993803	3305	101162											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958303	122958303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgccattatcaagaaggGcaccttcagtgtttaccgga	9	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:122958303G>A	uc001ucn.2	-	14	1996	c.1865C>T	c.(1864-1866)GCC>GTC	p.A622V	ZCCHC8_uc001ucl.2_Missense_Mutation_p.A233V|ZCCHC8_uc001ucm.2_Missense_Mutation_p.A384V|ZCCHC8_uc009zxp.2_Missense_Mutation_p.A384V|ZCCHC8_uc009zxq.2_Missense_Mutation_p.A384V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	622						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	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)		ATCAAGAAGGGCACCTTCAGT	0.498													A	122958303	G	A	122958303	3	1	189	1	0	0	0	0	1	0	0	0	17591	1203	42	2	262	2	ZCCHC8	12	122958303	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1100211	122958303	10893592	3306	101163											
RSRC2	65117	broad.mit.edu	37	chr12	123005956	123005956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttctgctccggctcctGtgttttcttccttcattatc	6	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:123005956G>A	uc001ucr.2	-	3	329	c.183C>T	c.(181-183)CAC>CAT	p.H61H	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_5'UTR|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.T6I|RSRC2_uc001ucu.2_Silent_p.H61H	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	61	Ser-rich.									ovary(1)	1	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)		TCCGGCTCCTGTGTTTTCTTC	0.308													A	123005956	G	A	123005956	2	1	189	1	0	0	0	0	0	0	0	1	13715	1368	48	4		4	RSRC2	12	123005956	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	47653	123005956	10845939	3307	101164											
KNTC1	9735	broad.mit.edu	37	chr12	123060422	123060422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctatggaataagagaggtAaatctcttaaacaaggaaat	10	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:123060422A>G	uc001ucv.2	+	29	2725	c.2562A>G	c.(2560-2562)GTA>GTG	p.V854V	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	854					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		TAAGAGAGGTAAATCTCTTAA	0.318													G	123060422	A	G	123060422	2	3	189	1	0	0	0	0	0	0	0	1	8428	349	13	3		3	KNTC1	12	123060422	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	54466	123060422	10791473	3308	101165											
KNTC1	9735	broad.mit.edu	37	chr12	123099602	123099602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacctgcagctttggaatgGactcttgcaaaagcttctgg	11	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:123099602G>A	uc001ucv.2	+	56	6105	c.5942G>A	c.(5941-5943)GGA>GAA	p.G1981E	KNTC1_uc010taf.1_Missense_Mutation_p.G906E	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1981					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		CTTTGGAATGGACTCTTGCAA	0.383													A	123099602	G	A	123099602	3	1	189	1	0	0	0	0	1	0	0	0	8428	1174	41	4	6160	4	KNTC1	12	123099602	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	39180	123099602	10752293	3309	101166											
VPS37B	79720	broad.mit.edu	37	chr12	123351987	123351987	+	Frame_Shift_Del	DEL	G	G	-													ggtgccagttcgggcagcctGgggggcagcggggccagggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:123351986_123351986TG>T	uc001udl.3	-	3	638	c.535_535CA>A	c.(535-537)aggfs	p.R179fs		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	179	Pro-rich.				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)		TCGGGCAGCCTGGGGGGCAGC	0.687													-	123351987	G	-	123351987	7	5	189	1	0	1	0	1	0	0	0	0	17203	1335	47	0	327	0	VPS37B	12	123351987	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	252385	123351987	10499908	3310	101167											
SBNO1	55206	broad.mit.edu	37	chr12	123806165	123806165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtttttagagctctcaTagtcactttcttcattatca	4	9	6	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:123806165T>C	uc010tap.1	-	16	2240	c.2240A>G	c.(2239-2241)TAT>TGT	p.Y747C	SBNO1_uc010tao.1_Missense_Mutation_p.Y746C|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.Y747C|SBNO1_uc001ueu.2_Missense_Mutation_p.Y746C|SBNO1_uc001uev.2_Missense_Mutation_p.Y745C|SBNO1_uc009zxy.1_Missense_Mutation_p.Y712C	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	747							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGAGCTCTCATAGTCACTTTC	0.393													C	123806165	T	C	123806165	3	2	189	1	0	0	0	0	1	0	0	0	13862	1406	49	3	2005	3	SBNO1	12	123806165	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	454178	123806165	10045730	3311	101168											
DDX55	57696	broad.mit.edu	37	chr12	124102328	124102328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtgcatcgctgcggtcGcacagctcgcattggccacg	12	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:124102328G>A	uc001ufi.2	+	11	1097	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	DDX55_uc001ufh.2_Missense_Mutation_p.R211H|DDX55_uc001ufj.1_Missense_Mutation_p.R211H|DDX55_uc001ufk.2_Missense_Mutation_p.R211H|DDX55_uc001ufl.2_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	358	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CGCTGCGGTCGCACAGCTCGC	0.507													A	124102328	G	A	124102328	3	1	189	1	0	0	0	0	1	0	0	0	4373	1087	38	1	1115	1	DDX55	12	124102328	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	296163	124102328	9749567	3312	101169											
DNAH10	196385	broad.mit.edu	37	chr12	124330240	124330240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgtcttccacaaagcGcaaaaaggggagaagcaggc	13	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:124330240G>A	uc001uft.3	+	30	5125	c.5100G>A	c.(5098-5100)GCG>GCA	p.A1700A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1700	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TCCACAAAGCGCAAAAAGGGG	0.562													A	124330240	G	A	124330240	2	1	189	1	0	0	0	0	0	0	0	1	4598	1074	38	1		1	DNAH10	12	124330240	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	227912	124330240	9521655	3313	101170											
DNAH10	196385	broad.mit.edu	37	chr12	124352477	124352477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttagccaagatgttggatGcgttgctagaaggagaaata	13	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:124352477G>A	uc001uft.3	+	42	7001	c.6976G>A	c.(6976-6978)GCG>ACG	p.A2326T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2326					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		GATGTTGGATGCGTTGCTAGA	0.502													A	124352477	G	A	124352477	3	1	189	1	0	0	0	0	1	0	0	0	4598	1319	46	2	7142	2	DNAH10	12	124352477	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	22237	124352477	9499418	3314	101171											
ZNF664	144348	broad.mit.edu	37	chr12	124496699	124496699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaataggaaaaatgatctAcaagtgccccatgtgtaggg	10	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:124496699A>G	uc001ufz.2	+	6	1838	c.8A>G	c.(7-9)TAC>TGC	p.Y3C	ZNF664_uc001uga.2_Missense_Mutation_p.Y3C|ZNF664_uc001ugb.2_Missense_Mutation_p.Y3C	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	3	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)		AAAATGATCTACAAGTGCCCC	0.368													G	124496699	A	G	124496699	3	3	189	1	0	0	0	0	1	0	0	0	18069	391	14	3	10	3	ZNF664	12	124496699	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	144222	124496699	9355196	3315	101172											
DHX37	57647	broad.mit.edu	37	chr12	125432358	125432358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtttctggtcagtggacaGtggtggggggccaggctttc	18	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:125432358G>T	uc001ugy.2	-	27	3563	c.3464C>A	c.(3463-3465)ACT>AAT	p.T1155N	DHX37_uc001ugz.1_3'UTR	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1155				YLLAEYCEWLPQAMHPDIEKAWPPTTVH -> CEFDQGQGV GVDRMGSLRQGLCALCTVSPGLAEGSGPTAAGQLFAT (in Ref. 2).			ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	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)		TCAGTGGACAGTGGTGGGGGG	0.637													T	125432358	G	T	125432358	3	4	189	1	0	0	0	0	1	0	0	0	4510	1029	36	5	13	5	DHX37	12	125432358	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	935659	125432358	8419537	3316	101173											
SLC15A4	121260	broad.mit.edu	37	chr12	129278857	129278857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagctccttgaatagcagCcagaagaaaaaagtaatagt	10	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:129278857C>T	uc001uhu.2	-	8	1671	c.1618G>A	c.(1618-1620)GCT>ACT	p.A540T	SLC15A4_uc001uhv.2_RNA	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	540	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TGAATAGCAGCCAGAAGAAAA	0.438													T	129278857	C	T	129278857	3	4	189	1	0	0	0	0	1	0	0	0	14401	739	26	2	119	2	SLC15A4	12	129278857	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3846499	129278857	4573038	3317	101174											
RIMBP2	23504	broad.mit.edu	37	chr12	130941158	130941158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcaatcttgccagcgtGctgccggaacttctccaggt	11	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:130941158G>A	uc001uil.2	-	4	354	c.190C>T	c.(190-192)CAC>TAC	p.H64Y	RIMBP2_uc001uim.2_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	64						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		TTGCCAGCGTGCTGCCGGAAC	0.607													A	130941158	G	A	130941158	3	1	189	1	0	0	0	0	1	0	0	0	13363	1319	46	2	3032	2	RIMBP2	12	130941158	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1662301	130941158	2910737	3318	101175											
GPR133	283383	broad.mit.edu	37	chr12	131439178	131439178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgcgcaggtgcgtggcGtctactccagatcgcaggac	14	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:131439178G>A	uc001uit.3	+	2	635	c.76G>A	c.(76-78)GTC>ATC	p.V26I	GPR133_uc010tbm.1_Missense_Mutation_p.V26I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	26	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	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)		GGTGCGTGGCGTCTACTCCAG	0.572													A	131439178	G	A	131439178	3	1	189	1	0	0	0	0	1	0	0	0	6643	1145	40	1	82	1	GPR133	12	131439178	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	498020	131439178	2412717	3319	101176											
EP400	57634	broad.mit.edu	37	chr12	132512679	132512679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggatttgtgccctgcctAgccatggaagggtacagtgg	14	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:132512679A>G	uc001ujn.2	+	26	5262	c.5227A>G	c.(5227-5229)AGC>GGC	p.S1743G	EP400_uc001ujl.2_Missense_Mutation_p.S1742G|EP400_uc001ujm.2_Missense_Mutation_p.S1662G	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1779					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		TGCCCTGCCTAGCCATGGAAG	0.552													G	132512679	A	G	132512679	3	3	189	1	0	0	0	0	1	0	0	0	5149	420	15	3	5326	3	EP400	12	132512679	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1073501	132512679	1339216	3320	101177											
EP400	57634	broad.mit.edu	37	chr12	132561083	132561083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaacttcctcaagttgTtcaacagcaaacacccgtgg	7	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:132561083T>C	uc001ujn.2	+	51	9079	c.9044T>C	c.(9043-9045)GTT>GCT	p.V3015A	EP400_uc001ujl.2_Missense_Mutation_p.V3014A|EP400_uc001ujm.2_Missense_Mutation_p.V2934A|EP400_uc001ujp.2_Missense_Mutation_p.V225A|EP400_uc010tbo.1_Silent_p.C81C	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	3051					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CCTCAAGTTGTTCAACAGCAA	0.443													C	132561083	T	C	132561083	3	2	189	1	0	0	0	0	1	0	0	0	5149	1725	60	3	9243	3	EP400	12	132561083	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	48404	132561083	1290812	3321	101178											
POLE	5426	broad.mit.edu	37	chr12	133241979	133241979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctccatgttcttgcagcGcttcacctcagccgcgtcgc	8	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:133241979G>A	uc001uks.1	-	21	2421	c.2377C>T	c.(2377-2379)CGC>TGC	p.R793C	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R766C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	793					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		TTCTTGCAGCGCTTCACCTCA	0.567								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133241979	G	A	133241979	3	1	189	1	0	0	0	0	1	0	0	0	12196	1087	38	1	4599	1	POLE	12	133241979	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	680896	133241979	609916	3322	101179											
POLE	5426	broad.mit.edu	37	chr12	133245254	133245254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgccaggccatcttccGctggcagtttgctccaggct	10	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:133245254G>A	uc001uks.1	-	18	2037	c.1993C>T	c.(1993-1995)CGG>TGG	p.R665W	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R638W	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	665					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		GCCATCTTCCGCTGGCAGTTT	0.632								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133245254	G	A	133245254	3	1	189	1	0	0	0	0	1	0	0	0	12196	1086	38	1	4995	1	POLE	12	133245254	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3275	133245254	606641	3323	101180											
POLE	5426	broad.mit.edu	37	chr12	133256634	133256634	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttctcgctcacaacccTaatcaggatcagaatgaaaa	5	11	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:133256634T>C	uc001uks.1	-	5	375	c.331_splice	c.e5-1	p.G111_splice	POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.G84_splice	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon						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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		CTCACAACCCTAATCAGGATC	0.443								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	133256634	T	C	133256634	5	2	189	1	0	0	0	0	0	0	1	0	12196	1536	53	3	6711	3	POLE	12	133256634	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11380	133256634	595261	3324	101181											
PXMP2	5827	broad.mit.edu	37	chr12	133277870	133277870	+	Frame_Shift_Del	DEL	G	G	-													agccttcgccgccaagatgaGggggggcttctggccggcgc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:133277869_133277869AG>A	uc001ukt.3	+	3	498	c.433_433AG>A	c.(433-435)aggfs	p.R145fs	PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	145						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)		CGCCAAGATGAGGGGGGGCTT	0.612													-	133277870	G	-	133277870	7	5	189	1	0	1	0	1	0	0	0	0	12850	1000	35	0	448	0	PXMP2	12	133277870	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	21236	133277870	574025	3325	101182											
ANKLE2	23141	broad.mit.edu	37	chr12	133310978	133310978	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacatgcttaccagacgtGgtggctttatctcggcagga	12	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:133310978G>T	uc001ukx.2	-	10	1951	c.1884C>A	c.(1882-1884)ACC>ACA	p.T628T	ANKLE2_uc009zyw.1_5'UTR|ANKLE2_uc001uky.3_Silent_p.T566T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	628						cytoplasm|integral to membrane|nuclear envelope					0	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)		TACCAGACGTGGTGGCTTTAT	0.562													T	133310978	G	T	133310978	2	4	189	1	0	0	0	0	0	0	0	1	633	1335	47	5		5	ANKLE2	12	133310978	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	33108	133310978	540917	3326	101183											
CHFR	55743	broad.mit.edu	37	chr12	133448913	133448914	+	Frame_Shift_Ins	INS	-	-	C													tacaccaagtagatgacatcINScccagtctgtaaagggcatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:133448912_133448913T>TC	uc001ulf.2	-	3	385_386	c.301_302A>GA	c.(301-303)gatfs	p.D101fs	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Frame_Shift_Ins_p.D101fs|CHFR_uc001ule.2_Frame_Shift_Ins_p.D101fs|CHFR_uc010tbs.1_Frame_Shift_Ins_p.D101fs|CHFR_uc010tbt.1_Frame_Shift_Ins_p.D101fs	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	101					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)		GTAGATGACATCCCCAGTCTGT	0.48													C	133448914	-	C	133448913	7	5	189	1	0	1	1	0	0	0	0	0	3337	855	30	0	1850	0	CHFR	12	133448913	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	137935	133448913	402982	3327	101184											
ZNF605	100289635	broad.mit.edu	37	chr12	133502068	133502068	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgaatcctctgatgcCtcataaggtgtgactttctt	8	9	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr12:133502068C>A	uc001ulh.2	-	5	2142	c.1817G>T	c.(1816-1818)AGG>ATG	p.R606M	ZNF605_uc001uli.2_Missense_Mutation_p.R637M|ZNF605_uc001ulj.2_Missense_Mutation_p.R606M	NM_183238	NP_899061	Q86T29	ZN605_HUMAN	zinc finger protein 605 isoform 1	606	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		CCTCTGATGCCTCATAAGGTG	0.403													A	133502068	C	A	133502068	3	1	189	1	0	0	0	0	1	0	0	0	18028	681	24	5	112	5	ZNF605	12	133502068	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	53155	133502068	349827	3328	101185											
TPTE2	93492	broad.mit.edu	37	chr13	20041394	20041395	+	Frame_Shift_Ins	INS	-	-	A													tcctaagcaacttaatgtcaINSaaaaaaatgtaaatgacatc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:20041393_20041394C>CA	uc001umd.3	-	7	694_695	c.483_484G>TG	c.(481-486)tttgacfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						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)		AACTTAATGTCAAAAAAAATGT	0.302													A	20041395	-	A	20041394	7	5	189	1	0	1	1	0	0	0	0	0	16428	127	5	0	1141	0	TPTE2	13	20041394	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08		20041394	95128484	3329	101186											
TPTE2	93492	broad.mit.edu	37	chr13	20056655	20056655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacattttcagcatctTcaacttcaaacttggaaagt	5	9	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:20056655T>C	uc001umd.2	-	5	363	c.152A>G	c.(151-153)GAA>GGA	p.E51G	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.E51G|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	51						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				0		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)		TTCAGCATCTTCAACTTCAAA	0.348													C	20056655	T	C	20056655	3	2	189	1	0	0	0	0	1	0	0	0	16428	1783	62	3	1484	3	TPTE2	13	20056655	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	15261	20056655	95113223	3330	101187											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20245347	20245347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctttccattgtaggAcagtcattttgtttactcat	5	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:20245347A>G	uc001umh.2	+	13	2468	c.2459A>G	c.(2458-2460)GAC>GGC	p.D820G		NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	820					cell cycle	cytoplasm|nucleus					0		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)		CCATTGTAGGACAGTCATTTT	0.368													G	20245347	A	G	20245347	3	3	189	1	0	0	0	0	1	0	0	0	9727	289	10	3	2509	3	MPHOSPH8	13	20245347	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	188692	20245347	94924531	3331	101188											
PSPC1	55269	broad.mit.edu	37	chr13	20356666	20356666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggcagcgctgcgtgtAcgtcttctcgcccggcttga	15	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:20356666A>G	uc001uml.2	-	1	418	c.232T>C	c.(232-234)TAC>CAC	p.Y78H	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		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)		CGCTGCGTGTACGTCTTCTCG	0.637													G	20356666	A	G	20356666	3	3	189	1	0	0	0	0	1	0	0	0	12716	391	14	3	1375	3	PSPC1	13	20356666	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	111319	20356666	94813212	3332	101189											
ZMYM5	9205	broad.mit.edu	37	chr13	20399239	20399240	+	Frame_Shift_Ins	INS	-	-	T													tagctgtgaagtcttttcctINSttttttctgggattccctct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:20399238_20399239C>CT	uc010tcn.1	-	7	1653_1654	c.1388_1389G>AG	c.(1387-1389)aagfs	p.K463fs	ZMYM5_uc001umm.1_Frame_Shift_Ins_p.K287fs	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	463						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)		aagtcttttcctttttttctgg	0.351													T	20399240	-	T	20399239	7	5	189	1	0	1	1	0	0	0	0	0	17700	1609	56	0	625	0	ZMYM5	13	20399239	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	42573	20399239	94770639	3333	101190											
LATS2	26524	broad.mit.edu	37	chr13	21562886	21562886	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggagtgagcaggctctGcggggggctgtcgctggcga	21	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:21562886G>A	uc009zzs.2	-	4	1398	c.1033C>T	c.(1033-1035)CAG>TAG	p.Q345*	LATS2_uc001unr.3_Nonsense_Mutation_p.Q345*	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	345					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			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		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)		AGCAGGCTCTGCGGGGGGCTG	0.701													A	21562886	G	A	21562886	4	1	189	1	0	0	0	0	0	1	0	0	8647	1328	46	2	2253	2	LATS2	13	21562886	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1163647	21562886	93606992	3334	101191											
LATS2	26524	broad.mit.edu	37	chr13	21562970	21562970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccggcctgcttgtggtGtgggtgcggcacgtagagcc	19	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:21562970G>A	uc009zzs.2	-	4	1314	c.949C>T	c.(949-951)CAC>TAC	p.H317Y	LATS2_uc001unr.3_Missense_Mutation_p.H317Y	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	317					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			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		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)		TGCTTGTGGTGTGGGTGCGGC	0.741													A	21562970	G	A	21562970	3	1	189	1	0	0	0	0	1	0	0	0	8647	1377	48	4	2337	4	LATS2	13	21562970	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	84	21562970	93606908	3335	101192											
EFHA1	221154	broad.mit.edu	37	chr13	22077129	22077129	+	Frame_Shift_Del	DEL	A	A	-													ctttattttcagtgttagtgAaaaaaagtagccactctgca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:22077128_22077128GA>G	uc001uof.3	-	8	938	c.870_870TC>C	c.(868-870)ttcfs	p.F290fs	EFHA1_uc010tct.2_Frame_Shift_Del_p.F80fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	290							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		CAGTGTTAGTGAAAAAAAGTA	0.323													-	22077129	A	-	22077129	7	5	189	1	0	1	0	1	0	0	0	0	4943	246	9	0	451	0	EFHA1	13	22077129	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	514159	22077129	93092749	3336	101193											
SACS	26278	broad.mit.edu	37	chr13	23932488	23932488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctgttatatgatagAcagaattaaacccaattcca	4	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:23932488A>G	uc001uon.2	-	7	1179	c.590T>C	c.(589-591)GTC>GCC	p.V197A	SACS_uc001uoo.2_Missense_Mutation_p.V50A|SACS_uc001uop.1_5'Flank|SACS_uc001uoq.1_Missense_Mutation_p.V50A	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	197					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TATATGATAGACAGAATTAAA	0.373													G	23932488	A	G	23932488	3	3	189	1	0	0	0	0	1	0	0	0	13804	275	10	3	13165	3	SACS	13	23932488	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1855359	23932488	91237390	3337	101194											
ATP12A	479	broad.mit.edu	37	chr13	25268672	25268672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaattagaaaaagaaacCgcaaagtagctgaaatccct	8	7	0	3	rs145531717		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:25268672C>T	uc001upp.2	+	11	1655	c.1468C>T	c.(1468-1470)CGC>TGC	p.R490C	ATP12A_uc010aaa.2_Missense_Mutation_p.R496C	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	490	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAAAAGAAACCGCAAAGTAGC	0.393											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	25268672	C	T	25268672	3	4	189	1	0	0	0	0	1	0	0	0	1122	652	23	1	1528	1	ATP12A	13	25268672	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1336184	25268672	89901206	3338	101195											
RNF17	56163	broad.mit.edu	37	chr13	25338390	25338390	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctaggtcttcctaccagCgaatggggaggaagagtcag	13	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:25338390C>T	uc001upr.2	+	1	90	c.49C>T	c.(49-51)CGA>TGA	p.R17*	RNF17_uc010tdd.1_5'UTR|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.R17*|RNF17_uc001ups.2_5'UTR|RNF17_uc001upq.1_Nonsense_Mutation_p.R17*	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	17					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		TTCCTACCAGCGAATGGGGAG	0.622													T	25338390	C	T	25338390	4	4	189	1	0	0	0	0	0	1	0	0	13461	760	27	1	51	1	RNF17	13	25338390	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	69718	25338390	89831488	3339	101196											
RNF17	56163	broad.mit.edu	37	chr13	25448299	25448299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcttatggtatagagcgAagattgttgccattaaagaa	11	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:25448299A>G	uc001upr.2	+	33	4536	c.4495A>G	c.(4495-4497)AAG>GAG	p.K1499E	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K1495E|RNF17_uc001ups.2_Missense_Mutation_p.K1438E|RNF17_uc010aac.2_Missense_Mutation_p.K691E|RNF17_uc010aad.2_Missense_Mutation_p.K509E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1499	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		GTATAGAGCGAAGATTGTTGC	0.299													G	25448299	A	G	25448299	3	3	189	1	0	0	0	0	1	0	0	0	13461	247	9	3	4625	3	RNF17	13	25448299	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	109909	25448299	89721579	3340	101197											
SHISA2	387914	broad.mit.edu	37	chr13	26621066	26621066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtctccatcaagcggTtaccccctggggctcggctc	13	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:26621066T>C	uc001uqm.1	-	2	558	c.473A>G	c.(472-474)AAC>AGC	p.N158S		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	158	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						CATCAAGCGGTTACCCCCTGG	0.637													C	26621066	T	C	26621066	3	2	189	1	0	0	0	0	1	0	0	0	14280	1725	60	3	418	3	SHISA2	13	26621066	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1172767	26621066	88548812	3341	101198											
GPR12	2835	broad.mit.edu	37	chr13	27332961	27332961	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgggtgcaagggtgcTacacatcactgggcgagcgc	14	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:27332961T>C	uc010aal.2	-	2	1226	c.1004A>G	c.(1003-1005)TAG>TGG	p.*335W	GPR12_uc010tdl.1_Nonstop_Mutation_p.*176W	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	335						integral to plasma membrane					0	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)		GCAAGGGTGCTACACATCACT	0.552													C	27332961	T	C	27332961	4	2	189	1	0	0	0	0	0	0	0	0	6635	1535	53	3	4	3	GPR12	13	27332961	Nonstop_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	711895	27332961	87836917	3342	101199											
MTIF3	219402	broad.mit.edu	37	chr13	28014141	28014141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctaccagttttggggttcgCcttctccatctccctcagcc	7	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:28014141C>A	uc001urh.2	-	1	1669	c.445G>T	c.(445-447)GCG>TCG	p.A149S	MTIF3_uc001uri.2_Missense_Mutation_p.A149S|MTIF3_uc001urj.2_Missense_Mutation_p.A149S|MTIF3_uc001urk.2_Missense_Mutation_p.A149S	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	149					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			ovary(1)|skin(1)	2		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TTGGGGTTCGCCTTCTCCATC	0.488													A	28014141	C	A	28014141	3	1	189	1	0	0	0	0	1	0	0	0	9935	739	26	5	403	5	MTIF3	13	28014141	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	681180	28014141	87155737	3343	101200											
FLT3	2322	broad.mit.edu	37	chr13	28610120	28610120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtccaagatggtaatgggTatccatccgagaaacaggac	12	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:28610120T>C	uc001urw.2	-	11	1452	c.1370A>G	c.(1369-1371)TAC>TGC	p.Y457C	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.Y457C	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	457	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	TGGTAATGGGTATCCATCCGA	0.423			Mis|O		AML|ALL								C	28610120	T	C	28610120	3	2	189	1	0	0	0	0	1	0	0	0	5942	1638	57	3	1667	3	FLT3	13	28610120	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	595979	28610120	86559758	3344	101201											
FLT3	2322	broad.mit.edu	37	chr13	28611391	28611391	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcatggaatatatattctcCtggctggtgcttatgattgc	10	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:28611391C>A	uc001urw.2	-	10	1322	c.1240G>T	c.(1240-1242)GGA>TGA	p.G414*	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Nonsense_Mutation_p.G414*	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	414	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	ATATATTCTCCTGGCTGGTGC	0.343			Mis|O		AML|ALL								A	28611391	C	A	28611391	4	1	189	1	0	0	0	0	0	1	0	0	5942	690	24	5	1801	5	FLT3	13	28611391	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1271	28611391	86558487	3345	101202											
PAN3	255967	broad.mit.edu	37	chr13	28841299	28841299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaattcaacactcaaaTatcgtaactttgcgtgaagt	6	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:28841299T>C	uc001urz.2	+	10	1211	c.1203T>C	c.(1201-1203)AAT>AAC	p.N401N	PAN3_uc010tdo.1_Silent_p.N547N|PAN3_uc001ury.2_Silent_p.N235N|PAN3_uc001urx.2_Silent_p.N347N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	547	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	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)		AACACTCAAATATCGTAACTT	0.383													C	28841299	T	C	28841299	2	2	189	1	0	0	0	0	0	0	0	1	11415	1403	49	3		3	PAN3	13	28841299	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	229908	28841299	86328579	3346	101203											
PAN3	255967	broad.mit.edu	37	chr13	28862168	28862168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactggagaccgttatctgtTgaaactctttagggatcatc	10	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:28862168T>C	uc001urz.2	+	17	2002	c.1994T>C	c.(1993-1995)TTG>TCG	p.L665S	PAN3_uc001ury.2_Missense_Mutation_p.L499S|PAN3_uc001urx.2_Missense_Mutation_p.L611S	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	811	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	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)		CGTTATCTGTTGAAACTCTTT	0.433													C	28862168	T	C	28862168	3	2	189	1	0	0	0	0	1	0	0	0	11415	1821	63	3	2502	3	PAN3	13	28862168	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	20869	28862168	86307710	3347	101204											
FLT1	2321	broad.mit.edu	37	chr13	28896941	28896941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaccctcctcttcctcaAcatcactcagacttttatct	1	17	5	1	rs116741209	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:28896941A>G	uc001usb.3	-	21	3224	c.2939T>C	c.(2938-2940)GTT>GCT	p.V980A	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.V105A|FLT1_uc001usa.3_Missense_Mutation_p.V198A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	980	Cytoplasmic (Potential).|Protein kinase.				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	CTCTTCCTCAACATCACTCAG	0.433													G	28896941	A	G	28896941	3	3	189	1	0	0	0	0	1	0	0	0	5941	43	2	3	1117	3	FLT1	13	28896941	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	34773	28896941	86272937	3348	101205											
FLT1	2321	broad.mit.edu	37	chr13	29012359	29012359	+	Splice_Site	DEL	T	T	-													tagcggtgttcaaatttaccTtttttaaagtaacagtgatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:29012358_29012358CT>C	uc001usb.3	-	4	798	c.513_splice	c.e4+1	p.K171_splice	FLT1_uc010aar.1_Splice_Site_p.K171_splice|FLT1_uc001usc.3_Splice_Site_p.K171_splice|FLT1_uc010tdp.1_Splice_Site_p.K171_splice	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|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)	TCAAATTTACCTTTTTTAAAG	0.383													-	29012359	T	-	29012359	8	5	189	1	0	1	0	1	0	0	1	0	5941	1623	56	0	3875	0	FLT1	13	29012359	Splice_Site	DEL	T	TCGA-CG-5721-01A-11D-1600-08	115418	29012359	86157519	3349	101206											
SLC46A3	283537	broad.mit.edu	37	chr13	29287455	29287455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtggtataattgccaCaaaatgcaccaatgaaggta	8	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:29287455C>T	uc001usi.2	-	2	1392	c.422G>A	c.(421-423)TGT>TAT	p.C141Y	SLC46A3_uc001usg.2_Missense_Mutation_p.C66Y|SLC46A3_uc001usj.2_Missense_Mutation_p.C141Y|SLC46A3_uc001ush.2_Missense_Mutation_p.C141Y|SLC46A3_uc001usk.2_Missense_Mutation_p.C66Y	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	141	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		ATAATTGCCACAAAATGCACC	0.393													T	29287455	C	T	29287455	3	4	189	1	0	0	0	0	1	0	0	0	14646	478	17	4	993	4	SLC46A3	13	29287455	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	275096	29287455	85882423	3350	101207											
USPL1	10208	broad.mit.edu	37	chr13	31232624	31232624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctttaaaactaaaggtAtaaaccagaaggccagccac	9	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:31232624A>G	uc001utc.2	+	9	2842	c.2410A>G	c.(2410-2412)ATA>GTA	p.I804V	USPL1_uc001utd.2_Missense_Mutation_p.I475V|USPL1_uc001ute.1_Missense_Mutation_p.I475V	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	804					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AACTAAAGGTATAAACCAGAA	0.428													G	31232624	A	G	31232624	3	3	189	1	0	0	0	0	1	0	0	0	17089	449	16	3	2440	3	USPL1	13	31232624	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1945169	31232624	83937254	3351	101208											
HSPH1	10808	broad.mit.edu	37	chr13	31725327	31725327	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaaagctgttcccagtAcctaatttggttgaaacaac	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:31725327A>T	uc001utj.2	-	7	1063	c.665T>A	c.(664-666)GTA>GAA	p.V222E	HSPH1_uc001utk.2_Missense_Mutation_p.V222E|HSPH1_uc010aaw.2_Missense_Mutation_p.V181E|HSPH1_uc001utl.2_Missense_Mutation_p.V224E|HSPH1_uc010tds.1_Missense_Mutation_p.V146E|HSPH1_uc010tdt.1_RNA	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	222					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		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)		TGTTCCCAGTACCTAATTTGG	0.308													T	31725327	A	T	31725327	3	4	189	1	0	0	0	0	1	0	0	0	7431	405	14	5	1959	5	HSPH1	13	31725327	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	492703	31725327	83444551	3352	101209											
RXFP2	122042	broad.mit.edu	37	chr13	32376343	32376343	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taacagtgctttgaatccaaTcctctatactctcacaacca	3	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:32376343T>A	uc001utt.2	+	18	2137	c.2066T>A	c.(2065-2067)ATC>AAC	p.I689N	RXFP2_uc010aba.2_Missense_Mutation_p.I648N	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	689	Helical; Name=7; (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGAATCCAATCCTCTATACT	0.328													A	32376343	T	A	32376343	3	1	189	1	0	0	0	0	1	0	0	0	13760	1435	50	5	2136	5	RXFP2	13	32376343	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	651016	32376343	82793535	3353	101210											
FRY	10129	broad.mit.edu	37	chr13	32653054	32653054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagggccgccaaccatgCtacccatcaatgtggaccca	9	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:32653054C>T	uc001utx.2	+	2	650	c.154C>T	c.(154-156)CTA>TTA	p.L52L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		GCCAACCATGCTACCCATCAA	0.498													T	32653054	C	T	32653054	2	4	189	1	0	0	0	0	0	0	0	1	6063	796	28	2		2	FRY	13	32653054	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	276711	32653054	82516824	3354	101211											
BRCA2	675	broad.mit.edu	37	chr13	32913067	32913067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctactctattgggttttcaTacagctagcgggaaaaaagt	9	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:32913067T>C	uc001uub.1	+	11	4802	c.4575T>C	c.(4573-4575)CAT>CAC	p.H1525H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1525	BRCA2 4.				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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		TGGGTTTTCATACAGCTAGCG	0.388			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32913067	T	C	32913067	2	2	189	1	0	0	0	0	0	0	0	1	1499	1403	49	3		3	BRCA2	13	32913067	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	260013	32913067	82256811	3355	101212											
BRCA2	675	broad.mit.edu	37	chr13	32913920	32913920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaatgaagatatttgcGttgaggaacttgtgactagc	11	5	0	4	rs80358766		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:32913920G>A	uc001uub.1	+	11	5655	c.5428G>A	c.(5428-5430)GTT>ATT	p.V1810I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1810					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		AGATATTTGCGTTGAGGAACT	0.343			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32913920	G	A	32913920	3	1	189	1	0	0	0	0	1	0	0	0	1499	1145	40	1	5466	1	BRCA2	13	32913920	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	853	32913920	82255958	3356	101213											
BRCA2	675	broad.mit.edu	37	chr13	32914557	32914557	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttaaaagtaacgaacattCagaccagctcacaagagaag	8	8	2	2	rs80358843		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:32914557C>T	uc001uub.1	+	11	6292	c.6065C>T	c.(6064-6066)TCA>TTA	p.S2022L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2022					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		AACGAACATTCAGACCAGCTC	0.338			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			T	32914557	C	T	32914557	3	4	189	1	0	0	0	0	1	0	0	0	1499	838	29	4	6103	4	BRCA2	13	32914557	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	637	32914557	82255321	3357	101214											
STARD13	90627	broad.mit.edu	37	chr13	33701537	33701537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgtgcttgttggacatgGagtgcttctccatgatggcc	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:33701537G>A	uc001uuw.2	-	6	2021	c.1895C>T	c.(1894-1896)TCC>TTC	p.S632F	STARD13_uc001uuu.2_Missense_Mutation_p.S624F|STARD13_uc001uuv.2_Missense_Mutation_p.S514F|STARD13_uc001uux.2_Missense_Mutation_p.S597F|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.S617F	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	632					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	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)		GTTGGACATGGAGTGCTTCTC	0.592													A	33701537	G	A	33701537	3	1	189	1	0	0	0	0	1	0	0	0	15255	1174	41	4	1482	4	STARD13	13	33701537	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	786980	33701537	81468341	3358	101215											
RFC3	5983	broad.mit.edu	37	chr13	34410364	34410364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatttatcacttggaagcgTttgtggccaaattcatggca	9	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:34410364T>C	uc001uuz.2	+	9	1113	c.1003T>C	c.(1003-1005)TTT>CTT	p.F335L	RFC3_uc001uva.2_Intron	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	335					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				0		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)		CTTGGAAGCGTTTGTGGCCAA	0.428													C	34410364	T	C	34410364	3	2	189	1	0	0	0	0	1	0	0	0	13246	1725	60	3	1037	3	RFC3	13	34410364	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	708827	34410364	80759514	3359	101216											
NBEA	26960	broad.mit.edu	37	chr13	35738555	35738555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatattatttttgtacataAcacaattcacctcatttccc	1	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:35738555A>G	uc001uvb.2	+	25	4348	c.4142A>G	c.(4141-4143)AAC>AGC	p.N1381S	NBEA_uc010abi.2_Missense_Mutation_p.N72S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1381						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.N1381fs*28(1)		ovary(9)|large_intestine(2)	11		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)		TTTGTACATAACACAATTCAC	0.338													G	35738555	A	G	35738555	3	3	189	1	0	0	0	0	1	0	0	0	10187	43	2	3	4236	3	NBEA	13	35738555	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1328191	35738555	79431323	3360	101217											
NBEA	26960	broad.mit.edu	37	chr13	35782886	35782886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtagtttagctgtaAccactgtgggagccactact	10	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:35782886A>G	uc001uvb.2	+	32	5622	c.5416A>G	c.(5416-5418)ACC>GCC	p.T1806A	NBEA_uc010abi.2_Missense_Mutation_p.T462A	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1806						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TTTAGCTGTAACCACTGTGGG	0.428													G	35782886	A	G	35782886	3	3	189	1	0	0	0	0	1	0	0	0	10187	43	2	3	5542	3	NBEA	13	35782886	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	44331	35782886	79386992	3361	101218											
CCNA1	8900	broad.mit.edu	37	chr13	37014180	37014180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcaccgatgatacatacAcaaaacgacaactgttaaaa	4	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:37014180A>G	uc001uvr.3	+	6	1308	c.958A>G	c.(958-960)ACA>GCA	p.T320A	CCNA1_uc010teo.1_Missense_Mutation_p.T276A|CCNA1_uc010abq.2_Missense_Mutation_p.T276A|CCNA1_uc010abp.2_Missense_Mutation_p.T276A|CCNA1_uc001uvs.3_Missense_Mutation_p.T319A|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	320					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			lung(2)|skin(2)|ovary(1)	5		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)		TGATACATACACAAAACGACA	0.378													G	37014180	A	G	37014180	3	3	189	1	0	0	0	0	1	0	0	0	2909	159	6	3	980	3	CCNA1	13	37014180	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1231294	37014180	78155698	3362	101219											
FAM48A	55578	broad.mit.edu	37	chr13	37598550	37598550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacacccttccccaatacCgaagactgaactgacacggt	6	14	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:37598550C>T	uc001uwg.2	-	18	1607	c.1359G>A	c.(1357-1359)TCG>TCA	p.S453S	FAM48A_uc010abt.2_Silent_p.S454S|FAM48A_uc001uwh.2_Silent_p.S454S|FAM48A_uc001uwi.2_Silent_p.S453S|FAM48A_uc001uwj.2_Silent_p.S454S|FAM48A_uc001uwk.2_Silent_p.S453S|FAM48A_uc010tes.1_Silent_p.S417S|FAM48A_uc001uwl.1_Silent_p.S453S|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'UTR|FAM48A_uc001uwf.2_Silent_p.S31S	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	453					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TCCCCAATACCGAAGACTGAA	0.368													T	37598550	C	T	37598550	2	4	189	1	0	0	0	0	0	0	0	1	5572	639	23	1		1	FAM48A	13	37598550	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	584370	37598550	77571328	3363	101220											
POSTN	10631	broad.mit.edu	37	chr13	38153249	38153249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattcattcaccagaagtgTatcatttacctatcaaaata	3	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:38153249T>C	uc001uwo.3	-	14	1919	c.1801A>G	c.(1801-1803)ACA>GCA	p.T601A	POSTN_uc010tet.1_Missense_Mutation_p.T129A|POSTN_uc001uwp.3_Missense_Mutation_p.T601A|POSTN_uc001uwr.2_Missense_Mutation_p.T601A|POSTN_uc001uwq.2_Missense_Mutation_p.T601A|POSTN_uc010teu.1_Missense_Mutation_p.T601A|POSTN_uc010tev.1_Missense_Mutation_p.T601A|POSTN_uc010tew.1_Missense_Mutation_p.T601A	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	601	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		ACCAGAAGTGTATCATTTACC	0.308													C	38153249	T	C	38153249	3	2	189	1	0	0	0	0	1	0	0	0	12259	1638	57	3	749	3	POSTN	13	38153249	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	554699	38153249	77016629	3364	101221											
FREM2	341640	broad.mit.edu	37	chr13	39263610	39263610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtggctgtccccttcGtatggtggtacaggaatccc	14	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:39263610G>A	uc001uwv.2	+	1	2438	c.2129G>A	c.(2128-2130)CGT>CAT	p.R710H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	710	CSPG 4.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		TGTCCCCTTCGTATGGTGGTA	0.557													A	39263610	G	A	39263610	3	1	189	1	0	0	0	0	1	0	0	0	6045	1145	40	1	2131	1	FREM2	13	39263610	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1110361	39263610	75906268	3365	101222											
STOML3	161003	broad.mit.edu	37	chr13	39544433	39544433	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgttgcttgatggacAtcgttgacattagccactgc	10	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:39544433A>G	uc001uwx.2	-	5	543	c.405T>C	c.(403-405)GAT>GAC	p.D135D	STOML3_uc010tez.1_Silent_p.D126D	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	135	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		CTTGATGGACATCGTTGACAT	0.478													G	39544433	A	G	39544433	2	3	189	1	0	0	0	0	0	0	0	1	15314	214	8	3		3	STOML3	13	39544433	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	280823	39544433	75625445	3366	101223											
STOML3	161003	broad.mit.edu	37	chr13	39546706	39546706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactttgacaaacacatcTatgcatggcaggaccaggat	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:39546706T>C	uc001uwx.2	-	4	393	c.255A>G	c.(253-255)ATA>ATG	p.I85M	STOML3_uc010tez.1_Missense_Mutation_p.I76M	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	85	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		CAAACACATCTATGCATGGCA	0.378													C	39546706	T	C	39546706	3	2	189	1	0	0	0	0	1	0	0	0	15314	1512	53	3	636	3	STOML3	13	39546706	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2273	39546706	75623172	3367	101224											
KBTBD7	84078	broad.mit.edu	37	chr13	41766825	41766825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagatacaatagatttcAtcattgaagacacatgcttc	5	9	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:41766825A>G	uc001uxw.1	-	1	1878	c.1569T>C	c.(1567-1569)GAT>GAC	p.D523D	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	523	Kelch 3.						protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AATAGATTTCATCATTGAAGA	0.438													G	41766825	A	G	41766825	2	3	189	1	0	0	0	0	0	0	0	1	7998	214	8	3		3	KBTBD7	13	41766825	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2220119	41766825	73403053	3368	101225											
AKAP11	11215	broad.mit.edu	37	chr13	42873774	42873774	+	Frame_Shift_Del	DEL	T	T	-													atagtgatttacagaaaacaTttttttcgtcttctcctgcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:42873773_42873773AT>A	uc001uys.2	+	7	1066	c.891_891AT>A	c.(889-891)acafs	p.T297fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	297	Ser-rich.				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)		TACAGAAAACATTTTTTTCGT	0.358													-	42873774	T	-	42873774	7	5	189	1	0	1	0	1	0	0	0	0	447	1493	52	0	914	0	AKAP11	13	42873774	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	1106949	42873774	72296104	3369	101226											
C13orf31	144811	broad.mit.edu	37	chr13	44463029	44463029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttactcttccaagggaAtcagcagaggcatttcataa	8	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:44463029A>G	uc010acg.2	+	5	1529	c.1044A>G	c.(1042-1044)GAA>GAG	p.E348E	C13orf31_uc001uzf.3_Silent_p.E348E	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	348											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)		TTCCAAGGGAATCAGCAGAGG	0.418													G	44463029	A	G	44463029	2	3	189	1	0	0	0	0	0	0	0	1	1726	98	4	3		3	C13orf31	13	44463029	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1589255	44463029	70706849	3370	101227											
KCTD4	386618	broad.mit.edu	37	chr13	45768415	45768415	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgggcaatagaagttcTccatttcgtaggaagtttag	10	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:45768415T>C	uc001uzx.3	-	2	692	c.288A>G	c.(286-288)GGA>GGG	p.G96G	GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerisation domain	96	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		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)		ATAGAAGTTCTCCATTTCGTA	0.438													C	45768415	T	C	45768415	2	2	189	1	0	0	0	0	0	0	0	1	8111	1538	54	3		3	KCTD4	13	45768415	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1305386	45768415	69401463	3371	101228											
ZC3H13	23091	broad.mit.edu	37	chr13	46541688	46541688	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttcttcaaatccctgCacagatcccagatctttatc	4	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:46541688C>G	uc010tfw.1	-	14	4278	c.4272G>C	c.(4270-4272)GTG>GTC	p.V1424V	ZC3H13_uc001vaq.2_Silent_p.V8V|ZC3H13_uc001vas.1_Silent_p.V1424V	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1424							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		CAAATCCCTGCACAGATCCCA	0.413													G	46541688	C	G	46541688	2	3	189	1	0	0	0	0	0	0	0	1	17562	697	25	5		5	ZC3H13	13	46541688	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	773273	46541688	68628190	3372	101229											
ZC3H13	23091	broad.mit.edu	37	chr13	46544099	46544099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttggctcaagagtctgtgTttttcatctatataaaagat	7	6	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:46544099T>C	uc010tfw.1	-	13	2586	c.2580A>G	c.(2578-2580)AAA>AAG	p.K860K	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Silent_p.K860K|ZC3H13_uc001vat.1_Silent_p.K860K	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	860							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		AGAGTCTGTGTTTTTCATCTA	0.378													C	46544099	T	C	46544099	2	2	189	1	0	0	0	0	0	0	0	1	17562	1722	60	3		3	ZC3H13	13	46544099	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2411	46544099	68625779	3373	101230											
RB1	5925	broad.mit.edu	37	chr13	48919305	48919305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgttgaagaagtatgatgTattgtttgcactcttcagca	9	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:48919305T>C	uc001vcb.2	+	4	636	c.470T>C	c.(469-471)GTA>GCA	p.V157A	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	157					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.?(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		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)	AAGTATGATGTATTGTTTGCA	0.303		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)			C	48919305	T	C	48919305	3	2	189	1	0	0	0	0	1	0	0	0	13098	1638	57	3	484	3	RB1	13	48919305	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2375206	48919305	66250573	3374	101231											
FNDC3A	22862	broad.mit.edu	37	chr13	49580394	49580394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatatttctcttttgtctgCccctattgtaagtgcagatg	8	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:49580394C>T	uc001vcm.2	+	2	373	c.68C>T	c.(67-69)GCC>GTC	p.A23V	FNDC3A_uc001vcl.1_Missense_Mutation_p.A23V|FNDC3A_uc001vcn.2_Missense_Mutation_p.A23V|FNDC3A_uc001vco.2_RNA	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	23						Golgi membrane|integral to membrane				lung(2)	2		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)		CTTTTGTCTGCCCCTATTGTA	0.318													T	49580394	C	T	49580394	3	4	189	1	0	0	0	0	1	0	0	0	5969	739	26	2	70	2	FNDC3A	13	49580394	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	661089	49580394	65589484	3375	101232											
KCNRG	283518	broad.mit.edu	37	chr13	50594527	50594527	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagccctgaagtgctcatCacgaatgaaacaccaaaacc	6	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:50594527C>T	uc001vdu.2	+	2	996	c.756C>T	c.(754-756)ATC>ATT	p.I252I	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	252						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		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;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		AAGTGCTCATCACGAATGAAA	0.363													T	50594527	C	T	50594527	2	4	189	1	0	0	0	0	0	0	0	1	8087	816	29	4		4	KCNRG	13	50594527	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1014133	50594527	64575351	3376	101233											
FAM124A	220108	broad.mit.edu	37	chr13	51826294	51826294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccatcagcgaggggcGctggcagacggaggaccatg	16	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:51826294G>A	uc001vfg.1	+	3	922	c.791G>A	c.(790-792)CGC>CAC	p.R264H	FAM124A_uc001vfe.2_Missense_Mutation_p.R264H|FAM124A_uc001vff.1_Missense_Mutation_p.R300H	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	264										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCGAGGGGCGCTGGCAGACG	0.617													A	51826294	G	A	51826294	3	1	189	1	0	0	0	0	1	0	0	0	5425	1087	38	1	913	1	FAM124A	13	51826294	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1231767	51826294	63343584	3377	101234											
ATP7B	540	broad.mit.edu	37	chr13	52548584	52548584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctattctcagttggagggTgaccacatggcttccttggt	11	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:52548584T>C	uc001vfw.2	-	2	929	c.772A>G	c.(772-774)ACC>GCC	p.T258A	ATP7B_uc010adv.2_Missense_Mutation_p.T258A|ATP7B_uc001vfx.2_Missense_Mutation_p.T258A|ATP7B_uc001vfy.2_Missense_Mutation_p.T258A|ATP7B_uc010tgt.1_Missense_Mutation_p.T258A|ATP7B_uc010tgu.1_Missense_Mutation_p.T258A|ATP7B_uc010tgv.1_Missense_Mutation_p.T258A|ATP7B_uc010tgw.1_Missense_Mutation_p.T226A	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	258	HMA 3.|Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		AGTTGGAGGGTGACCACATGG	0.423									Wilson_disease				C	52548584	T	C	52548584	3	2	189	1	0	0	0	0	1	0	0	0	1191	1696	59	3	3705	3	ATP7B	13	52548584	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	722290	52548584	62621294	3378	101235											
NEK5	341676	broad.mit.edu	37	chr13	52676262	52676262	+	Frame_Shift_Del	DEL	A	A	-													atttgggaataagattctctAaaaagggccttttcaaaatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:52676261_52676261TA>T	uc001vge.3	-	9	917	c.777_777TA>A	c.(775-777)ttafs	p.L259fs		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	259	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)		TAAGATTCTCTAAAAAGGGCC	0.428													-	52676262	A	-	52676262	7	5	189	1	0	1	0	1	0	0	0	0	10327	372	13	0	1402	0	NEK5	13	52676262	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	127678	52676262	62493616	3379	101236											
THSD1	55901	broad.mit.edu	37	chr13	52971767	52971767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcttctggccccaagggTgcacagccaaactcaaccca	9	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:52971767T>C	uc001vgo.2	-	3	1166	c.621A>G	c.(619-621)GCA>GCG	p.A207A	THSD1_uc001vgp.2_Silent_p.A207A|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	207	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		GCCCCAAGGGTGCACAGCCAA	0.522													C	52971767	T	C	52971767	2	2	189	1	0	0	0	0	0	0	0	1	15874	1683	59	3		3	THSD1	13	52971767	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	295505	52971767	62198111	3380	101237											
CKAP2	26586	broad.mit.edu	37	chr13	53035683	53035683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgactgccactactaaatTtgtgagcactacatctcaga	6	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:53035683T>C	uc001vgv.2	+	4	922	c.725T>C	c.(724-726)TTT>TCT	p.F242S	CKAP2_uc001vgt.2_Missense_Mutation_p.F241S|CKAP2_uc001vgu.2_Missense_Mutation_p.F241S|CKAP2_uc010tha.1_Missense_Mutation_p.F193S	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	242					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		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)		ACTACTAAATTTGTGAGCACT	0.428													C	53035683	T	C	53035683	3	2	189	1	0	0	0	0	1	0	0	0	3442	1841	64	3	739	3	CKAP2	13	53035683	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	63916	53035683	62134195	3381	101238											
PCDH17	27253	broad.mit.edu	37	chr13	58208421	58208421	+	Frame_Shift_Del	DEL	C	C	-													tagacgtgaatgacaacgcgCcagtgatcgtgctccccacg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:58208420_58208420GC>G	uc001vhq.1	+	0	2632	c.1740_1740GC>G	c.(1738-1740)gcgfs	p.A580fs	PCDH17_uc010aec.1_Frame_Shift_Del_p.A580fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	580	Cadherin 5.				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)		ATGACAACGCGCCAGTGATCG	0.637													-	58208421	C	-	58208421	7	5	189	1	0	1	0	1	0	0	0	0	11512	739	26	0	1743	0	PCDH17	13	58208421	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	5172738	58208421	56961457	3382	101239											
PCDH17	27253	broad.mit.edu	37	chr13	58299162	58299162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaagcagtcagtacTtgcccactgacagtcaatat	8	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:58299162T>C	uc001vhq.1	+	4	4106	c.3214T>C	c.(3214-3216)TTG>CTG	p.L1072L	PCDH17_uc010aec.1_Silent_p.L1071L|PCDH17_uc001vhr.1_Silent_p.L161L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1072	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532													C	58299162	T	C	58299162	2	2	189	1	0	0	0	0	0	0	0	1	11512	1606	56	3		3	PCDH17	13	58299162	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	90741	58299162	56870716	3383	101240											
PCDH20	64881	broad.mit.edu	37	chr13	61987120	61987120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttttcatccaggtgaAataaatccttagatgcttgt	8	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:61987120A>G	uc001vid.3	-	2	1476	c.1112T>C	c.(1111-1113)TTT>TCT	p.F371S	PCDH20_uc010thj.1_Missense_Mutation_p.F371S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	344	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATCCAGGTGAAATAAATCCTT	0.433													G	61987120	A	G	61987120	3	3	189	1	0	0	0	0	1	0	0	0	11515	14	1	3	1747	3	PCDH20	13	61987120	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3687958	61987120	53182758	3384	101241											
DACH1	1602	broad.mit.edu	37	chr13	72053400	72053400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagttttttccagttggaCctgtttctcttgagctctgg	9	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:72053400C>T	uc010thn.1	-	9	2194	c.1771G>A	c.(1771-1773)GTC>ATC	p.V591I	DACH1_uc010tho.1_Missense_Mutation_p.V443I|DACH1_uc010thp.1_Missense_Mutation_p.V389I	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	643	DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCAGTTGGACCTGTTTCTCT	0.378													T	72053400	C	T	72053400	3	4	189	1	0	0	0	0	1	0	0	0	4220	507	18	4	365	4	DACH1	13	72053400	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10066280	72053400	43116478	3385	101242											
DIS3	22894	broad.mit.edu	37	chr13	73349347	73349347	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcctgcttagattcatAccattcgttctgtctcttct	4	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:73349347A>G	uc001vix.3	-	6	1361	c.987_splice	c.e6+1	p.M329_splice	DIS3_uc001viy.3_Splice_Site_p.M299_splice|DIS3_uc001viz.2_Splice_Site	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a						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)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTAGATTCATACCATTCGTTC	0.358										Multiple Myeloma(4;0.011)			G	73349347	A	G	73349347	5	3	189	1	0	0	0	0	0	0	1	0	4535	405	14	3	1951	3	DIS3	13	73349347	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1295947	73349347	41820531	3386	101243											
PIBF1	10464	broad.mit.edu	37	chr13	73357645	73357645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagtcaaaaaaagtgaAcatctctagttctctggaat	8	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:73357645A>G	uc001vjc.2	+	2	343	c.38A>G	c.(37-39)AAC>AGC	p.N13S	PIBF1_uc001vja.1_Missense_Mutation_p.N13S|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.N13S|PIBF1_uc010aep.2_Intron|DIS3_uc001viy.3_5'Flank|DIS3_uc001vix.3_5'Flank|DIS3_uc001viz.2_5'Flank	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	13						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAAAGTGAACATCTCTAGT	0.318													G	73357645	A	G	73357645	3	3	189	1	0	0	0	0	1	0	0	0	11879	43	2	3	40	3	PIBF1	13	73357645	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8298	73357645	41812233	3387	101244											
COMMD6	170622	broad.mit.edu	37	chr13	76100731	76100731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaatccgtcttcacacCgtttcaataactgcagcaat	5	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:76100731C>T	uc001vjo.1	-	4	302	c.252G>A	c.(250-252)ACG>ACA	p.T84T	COMMD6_uc001vjn.1_Silent_p.T97T|COMMD6_uc010aet.1_RNA|COMMD6_uc001vjp.1_RNA	NM_203495	NP_987091	Q7Z4G1	COMD6_HUMAN	COMM domain containing 6 isoform b	84	COMM.					cytoplasm|nucleus	protein binding				0		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		GTCTTCACACCGTTTCAATAA	0.328													T	76100731	C	T	76100731	2	4	189	1	0	0	0	0	0	0	0	1	3720	639	23	1		1	COMMD6	13	76100731	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2743086	76100731	39069147	3388	101245											
LMO7	4008	broad.mit.edu	37	chr13	76407252	76407252	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagtcttgactttgggttTacaataaaatgggatattcc	9	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:76407252T>C	uc001vjv.2	+	13	3076	c.2316T>C	c.(2314-2316)TTT>TTC	p.F772F	LMO7_uc010thv.1_Silent_p.F723F|LMO7_uc001vjt.1_Silent_p.F671F|LMO7_uc010thw.1_Silent_p.F622F|LMO7_uc001vjw.1_Silent_p.F678F	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1057	PDZ.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTTTGGGTTTACAATAAAAT	0.398													C	76407252	T	C	76407252	2	2	189	1	0	0	0	0	0	0	0	1	8855	1751	61	3		3	LMO7	13	76407252	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	306521	76407252	38762626	3389	101246											
FBXL3	26224	broad.mit.edu	37	chr13	77581883	77581883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtagttcagggctagTtctcttaagccgtgacactg	12	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:77581883T>C	uc001vkd.2	-	5	1055	c.684A>G	c.(682-684)GAA>GAG	p.E228E		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	228	LRR 3.				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				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCAGGGCTAGTTCTCTTAAGC	0.348													C	77581883	T	C	77581883	2	2	189	1	0	0	0	0	0	0	0	1	5720	1722	60	3		3	FBXL3	13	77581883	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1174631	77581883	37587995	3390	101247											
FBXL3	26224	broad.mit.edu	37	chr13	77592813	77592813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaattcacaagttgcgaTagtatatcacaagctgcttc	8	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:77592813T>C	uc001vkd.2	-	3	764	c.393A>G	c.(391-393)CTA>CTG	p.L131L		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	131	LRR 1.				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				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		CAAGTTGCGATAGTATATCAC	0.338													C	77592813	T	C	77592813	2	2	189	1	0	0	0	0	0	0	0	1	5720	1393	49	3		3	FBXL3	13	77592813	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10930	77592813	37577065	3391	101248											
EDNRB	1910	broad.mit.edu	37	chr13	78475265	78475265	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcacaggtcattagtgtAtaaaaaaatgcagtgatggc	9	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:78475265A>C	uc001vko.2	-	4	1137	c.879T>G	c.(877-879)TAT>TAG	p.Y293*	EDNRB_uc001vkq.1_Nonsense_Mutation_p.Y293*|uc001vkn.1_Intron|EDNRB_uc010aez.1_Nonsense_Mutation_p.Y293*|EDNRB_uc001vkp.1_Nonsense_Mutation_p.Y376*	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	293	Helical; Name=5; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TCATTAGTGTATAAAAAAATG	0.338													C	78475265	A	C	78475265	4	2	189	1	0	0	0	0	0	1	0	0	4920	456	16	5	586	5	EDNRB	13	78475265	Nonsense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	882452	78475265	36694613	3392	101249											
POU4F1	5457	broad.mit.edu	37	chr13	79175650	79175650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagtttctcggcgatgGcggcgatcttctcggacgag	15	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:79175650G>A	uc001vkv.2	-	2	1394	c.1160C>T	c.(1159-1161)GCC>GTC	p.A387V	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	387	Homeobox.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CTCGGCGATGGCGGCGATCTT	0.597													A	79175650	G	A	79175650	3	1	189	1	0	0	0	0	1	0	0	0	12278	1203	42	2	103	2	POU4F1	13	79175650	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	700385	79175650	35994228	3393	101250											
SLITRK1	114798	broad.mit.edu	37	chr13	84455509	84455509	+	Frame_Shift_Del	DEL	T	T	-													gctgcagacttgtgaagcccTttttttcacagtctacgtgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:84455508_84455508CT>C	uc001vlk.3	-	0	1021	c.135_135AG>G	c.(133-135)aagfs	p.K45fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	45	LRRNT.					integral to membrane		p.K45fs*64(1)		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)		TTGTGAAGCCCTTTTTTTCAC	0.463													-	84455509	T	-	84455509	7	5	189	1	0	1	0	1	0	0	0	0	14742	1609	56	0	1960	0	SLITRK1	13	84455509	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	5279859	84455509	30714369	3394	101251											
SLITRK6	84189	broad.mit.edu	37	chr13	86368224	86368224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactaataccttccttggaCgtgagtacattaatgtttcc	6	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:86368224C>T	uc001vll.1	-	2	2879	c.2420G>A	c.(2419-2421)CGT>CAT	p.R807H	SLITRK6_uc010afe.1_Missense_Mutation_p.R260H	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	807	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTCCTTGGACGTGAGTACAT	0.403													T	86368224	C	T	86368224	3	4	189	1	0	0	0	0	1	0	0	0	14747	536	19	1	109	1	SLITRK6	13	86368224	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1912715	86368224	28801654	3395	101252											
SLITRK5	26050	broad.mit.edu	37	chr13	88329969	88329969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcaactccgtagaggatTacaaagacctgcacgagctc	11	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:88329969T>C	uc001vln.2	+	2	2545	c.2326T>C	c.(2326-2328)TAC>CAC	p.Y776H	SLITRK5_uc010tic.1_Missense_Mutation_p.Y535H	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	776	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGTAGAGGATTACAAAGACCT	0.438													C	88329969	T	C	88329969	3	2	189	1	0	0	0	0	1	0	0	0	14746	1754	61	3	2328	3	SLITRK5	13	88329969	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1961745	88329969	26839909	3396	101253											
SLITRK5	26050	broad.mit.edu	37	chr13	88330275	88330275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaatagcctcccggaatatCccaaattcccgtgcagcccc	7	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:88330275C>T	uc001vln.2	+	2	2851	c.2632C>T	c.(2632-2634)CCC>TCC	p.P878S	SLITRK5_uc010tic.1_Missense_Mutation_p.P637S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	878	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCGGAATATCCCAAATTCCC	0.607													T	88330275	C	T	88330275	3	4	189	1	0	0	0	0	1	0	0	0	14746	855	30	4	2634	4	SLITRK5	13	88330275	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	306	88330275	26839603	3397	101254											
GPC5	2262	broad.mit.edu	37	chr13	92051382	92051382	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccgcagcgagggcgtgCagacctgcgaagaagttcgg	16	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:92051382C>T	uc010tif.1	+	1	448	c.82C>T	c.(82-84)CAG>TAG	p.Q28*		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	28						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGAGGGCGTGCAGACCTGCGA	0.682													T	92051382	C	T	92051382	4	4	189	1	0	0	0	0	0	1	0	0	6601	711	25	2	84	2	GPC5	13	92051382	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3721107	92051382	23118496	3398	101255											
GPC6	10082	broad.mit.edu	37	chr13	94938708	94938708	+	Frame_Shift_Del	DEL	A	A	-													agccattatgaacatgcaagAaaacagcatgcaggtgtctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:94938707_94938707GA>G	uc001vlt.3	+	4	1614	c.982_982GA>G	c.(982-984)gaafs	p.E328fs	GPC6_uc010tig.1_Frame_Shift_Del_p.E328fs	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	328						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)				GAACATGCAAGAAAACAGCAT	0.418													-	94938708	A	-	94938708	7	5	189	1	0	1	0	1	0	0	0	0	6602	246	9	0	1001	0	GPC6	13	94938708	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	2887326	94938708	20231170	3399	101256											
DCT	1638	broad.mit.edu	37	chr13	95131364	95131364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagagccacagacattgGccgactctgcacccaggcgt	12	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:95131364G>A	uc001vlv.3	-	1	573	c.146C>T	c.(145-147)GCC>GTC	p.A49V	DCT_uc010afh.2_Missense_Mutation_p.A49V	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	49	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	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)		ACAGACATTGGCCGACTCTGC	0.617													A	95131364	G	A	95131364	3	1	189	1	0	0	0	0	1	0	0	0	4304	1203	42	2	1552	2	DCT	13	95131364	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	192656	95131364	20038514	3400	101257											
TGDS	23483	broad.mit.edu	37	chr13	95230367	95230367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacagtgagaaatgcttcTacaacatcagtagcataaag	9	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:95230367T>C	uc001vlw.2	-	9	838	c.717A>G	c.(715-717)GTA>GTG	p.V239V	TGDS_uc001vlx.2_RNA	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	239					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GAAATGCTTCTACAACATCAG	0.363													C	95230367	T	C	95230367	2	2	189	1	0	0	0	0	0	0	0	1	15811	1509	53	3		3	TGDS	13	95230367	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	99003	95230367	19939511	3401	101258											
TGDS	23483	broad.mit.edu	37	chr13	95243105	95243105	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacataaaacaatgcttAcctacatgtgtttgtgcggc	8	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:95243105A>G	uc001vlw.2	-	4	434	c.313_splice	c.e4+1	p.D105_splice	TGDS_uc001vlx.2_Intron	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase						cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AACAATGCTTACCTACATGTG	0.368													G	95243105	A	G	95243105	5	3	189	1	0	0	0	0	0	0	1	0	15811	405	14	3	773	3	TGDS	13	95243105	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	12738	95243105	19926773	3402	101259											
GPR180	160897	broad.mit.edu	37	chr13	95275518	95275518	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatcacagtggagagaagTacactcaaaagggagttcta	10	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:95275518T>C	uc001vly.2	+	7	1128	c.1050T>C	c.(1048-1050)AGT>AGC	p.S350S	GPR180_uc001vlz.2_Silent_p.S249S|GPR180_uc010afi.2_Silent_p.S111S	NM_180989	NP_851320	Q86V85	GP180_HUMAN	G protein-coupled receptor 180 precursor	350						integral to membrane				breast(1)	1	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGGAGAGAAGTACACTCAAAA	0.408													C	95275518	T	C	95275518	2	2	189	1	0	0	0	0	0	0	0	1	6676	1635	57	3		3	GPR180	13	95275518	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	32413	95275518	19894360	3403	101260											
ABCC4	10257	broad.mit.edu	37	chr13	95695936	95695936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcaggtgaaggactcacCattatcttgtcgctgtcaat	9	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:95695936C>T	uc001vmd.3	-	29	3854	c.3735G>A	c.(3733-3735)ATG>ATA	p.M1245I	ABCC4_uc010afj.2_Intron|ABCC4_uc010afk.2_Missense_Mutation_p.M1198I	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	1245	ABC transporter 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			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AAGGACTCACCATTATCTTGT	0.393													T	95695936	C	T	95695936	3	4	189	1	0	0	0	0	1	0	0	0	55	608	21	4	254	4	ABCC4	13	95695936	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	420418	95695936	19473942	3404	101261											
DNAJC3	5611	broad.mit.edu	37	chr13	96361576	96361576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgatgctttatctcagTttcatgctgccgtaggtttg	10	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:96361576T>C	uc001vmq.2	+	2	286	c.178T>C	c.(178-180)TTT>CTT	p.F60L	DNAJC3_uc001vmp.2_Missense_Mutation_p.F60L|DNAJC3_uc001vmr.2_Missense_Mutation_p.F60L	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	60	TPR 1.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TTTATCTCAGTTTCATGCTGC	0.353													C	96361576	T	C	96361576	3	2	189	1	0	0	0	0	1	0	0	0	4647	1725	60	3	184	3	DNAJC3	13	96361576	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	665640	96361576	18808302	3405	101262											
FARP1	10160	broad.mit.edu	37	chr13	99020379	99020379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttctttagggccaaagCacgttgttgttaagtttgtg	10	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:99020379C>T	uc001vnj.2	+	5	664	c.328C>T	c.(328-330)CAC>TAC	p.H110Y	FARP1_uc001vnh.2_Missense_Mutation_p.H110Y	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	110	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGGCCAAAGCACGTTGTTGT	0.343													T	99020379	C	T	99020379	3	4	189	1	0	0	0	0	1	0	0	0	5676	710	25	2	565	2	FARP1	13	99020379	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2658803	99020379	16149499	3406	101263											
FARP1	10160	broad.mit.edu	37	chr13	99092982	99092982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgacctgagcgcctcGcgcacatcgctggagcgcca	14	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:99092982G>A	uc001vnj.2	+	24	3024	c.2688G>A	c.(2686-2688)TCG>TCA	p.S896S	FARP1_uc001vnh.2_Silent_p.S927S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	896					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAGCGCCTCGCGCACATCGC	0.627													A	99092982	G	A	99092982	2	1	189	1	0	0	0	0	0	0	0	1	5676	1074	38	1		1	FARP1	13	99092982	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	72603	99092982	16076896	3407	101264											
SLC15A1	6564	broad.mit.edu	37	chr13	99337071	99337071	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcatcaaattgagcttcGatctccgctgggttgatgta	9	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:99337071G>A	uc001vno.2	-	23	2111	c.2034C>T	c.(2032-2034)ATC>ATT	p.I678I		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	678	Cytoplasmic (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTGAGCTTCGATCTCCGCTG	0.443													A	99337071	G	A	99337071	2	1	189	1	0	0	0	0	0	0	0	1	14398	1048	37	1		1	SLC15A1	13	99337071	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	244089	99337071	15832807	3408	101265											
DOCK9	23348	broad.mit.edu	37	chr13	99536156	99536156	+	Splice_Site	DEL	A	A	-													aatttccggaccataatgctAaaaaaaatatggaagaaaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:99536155_99536155TA>T	uc001vnt.2	-	22	2441	c.2386_splice	c.e22-1	p.H796_splice	DOCK9_uc001vnw.2_Splice_Site_p.H795_splice|DOCK9_uc021rlw.1_Splice_Site_p.H795_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.H796_splice|DOCK9_uc010tis.1_Splice_Site_p.H795_splice|DOCK9_uc010tit.1_Splice_Site_p.H796_splice|DOCK9_uc010afu.1_Splice_Site_p.H642_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	796	DHR-1.				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)					ACCATAATGCTAAAAAAAATA	0.403													-	99536156	A	-	99536156	8	5	189	1	0	1	0	1	0	0	1	0	4694	377	13	0		0	DOCK9	13	99536156	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	199085	99536156	15633722	3409	101266											
PCCA	5095	broad.mit.edu	37	chr13	101077939	101077939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacgtggaacctggcttCgcccttattgtctgtcagcg	11	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:101077939C>T	uc001voo.2	+	20	1837	c.1799C>T	c.(1798-1800)TCG>TTG	p.S600L	PCCA_uc010aga.2_Missense_Mutation_p.S574L|PCCA_uc010tiz.1_Missense_Mutation_p.S600L|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	600					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AACCTGGCTTCGCCCTTATTG	0.478													T	101077939	C	T	101077939	3	4	189	1	0	0	0	0	1	0	0	0	11504	893	31	1	1877	1	PCCA	13	101077939	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1541783	101077939	14091939	3410	101267											
NALCN	259232	broad.mit.edu	37	chr13	101755586	101755586	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatctggggcaccagTttgaatatgcgcagaggtct	11	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:101755586T>C	uc001vox.1	-	26	3183	c.2994A>G	c.(2992-2994)AAA>AAG	p.K998K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	998	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGGCACCAGTTTGAATATGC	0.438													C	101755586	T	C	101755586	2	2	189	1	0	0	0	0	0	0	0	1	10148	1722	60	3		3	NALCN	13	101755586	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	677647	101755586	13414292	3411	101268											
TPP2	7174	broad.mit.edu	37	chr13	103286306	103286306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttccatttagtgctgaCggggcccttggtgtgagtat	14	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:103286306C>T	uc001vpi.3	+	11	1354	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	417					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAGTGCTGACGGGGCCCTTG	0.458													T	103286306	C	T	103286306	2	4	189	1	0	0	0	0	0	0	0	1	16409	535	19	1		1	TPP2	13	103286306	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1530720	103286306	11883572	3412	101269											
C13orf27	93081	broad.mit.edu	37	chr13	103421785	103421785	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgaggaagattcataTctcctgatgctccatgtgta	8	8	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:103421785T>A	uc001vpo.2	-	3	300	c.122A>T	c.(121-123)GAT>GTT	p.D41V	C13orf27_uc001vpn.2_5'UTR|C13orf27_uc001vpp.2_5'UTR	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	41											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGATTCATATCTCCTGATGC	0.353													A	103421785	T	A	103421785	3	1	189	1	0	0	0	0	1	0	0	0	1723	1435	50	5	577	5	C13orf27	13	103421785	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	135479	103421785	11748093	3413	101270											
ERCC5	2073	broad.mit.edu	37	chr13	103514541	103514541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagaactttactagctAtgcaagctgccctgctggga	9	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:103514541A>G	uc001vpw.2	+	8	1485	c.1042A>G	c.(1042-1044)ATG>GTG	p.M348V	ERCC5_uc001vpu.1_Missense_Mutation_p.M802V|ERCC5_uc010tjb.1_Missense_Mutation_p.M348V|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.M180V	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	348					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTACTAGCTATGCAAGCTGC	0.522			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				G	103514541	A	G	103514541	3	3	189	1	0	0	0	0	1	0	0	0	5216	449	16	3	1072	3	ERCC5	13	103514541	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	92756	103514541	11655337	3414	101271											
TUBGCP3	10426	broad.mit.edu	37	chr13	113159011	113159011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaaatgtgacactggtGcagcaccccggagaactctg	12	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:113159011G>A	uc001vse.1	-	18	2291	c.2104C>T	c.(2104-2106)CAC>TAC	p.H702Y	TUBGCP3_uc010tjq.1_Missense_Mutation_p.H692Y|TUBGCP3_uc001vsf.2_Missense_Mutation_p.H702Y	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	702					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)	1	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)					TGACACTGGTGCAGCACCCCG	0.478													A	113159011	G	A	113159011	3	1	189	1	0	0	0	0	1	0	0	0	16764	1319	46	2	639	2	TUBGCP3	13	113159011	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	9644470	113159011	2010867	3415	101272											
ATP11A	23250	broad.mit.edu	37	chr13	113470490	113470490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgggacgtgccacgtcAccaccgccagcttggatgga	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:113470490A>G	uc001vsi.3	+	6	623	c.535A>G	c.(535-537)ACC>GCC	p.T179A	ATP11A_uc001vsj.3_Missense_Mutation_p.T179A|ATP11A_uc001vsm.1_Missense_Mutation_p.T55A	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	179	Cytoplasmic (Potential).				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			large_intestine(2)|ovary(2)	4	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)				GTGCCACGTCACCACCGCCAG	0.552													G	113470490	A	G	113470490	3	3	189	1	0	0	0	0	1	0	0	0	1119	159	6	3	557	3	ATP11A	13	113470490	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	311479	113470490	1699388	3416	101273											
MCF2L	23263	broad.mit.edu	37	chr13	113718664	113718664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacacggttacatcgataAgtcgcagctgaccgaggacc	10	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:113718664A>G	uc001vsu.2	+	6	729	c.707A>G	c.(706-708)AAG>AGG	p.K236R	MCF2L_uc001vsq.2_Missense_Mutation_p.K236R|MCF2L_uc010tjr.1_Missense_Mutation_p.K179R|MCF2L_uc001vsr.2_Missense_Mutation_p.K183R|MCF2L_uc001vss.3_Missense_Mutation_p.K177R|MCF2L_uc010tjs.1_Missense_Mutation_p.K177R|MCF2L_uc001vst.1_Missense_Mutation_p.K141R	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	209	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	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)				TACATCGATAAGTCGCAGCTG	0.602													G	113718664	A	G	113718664	3	3	189	1	0	0	0	0	1	0	0	0	9379	72	3	3	824	3	MCF2L	13	113718664	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	248174	113718664	1451214	3417	101274											
MCF2L	23263	broad.mit.edu	37	chr13	113739245	113739245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagtactgtcagaacAagccccgctctgagagcctg	11	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:113739245A>C	uc001vsu.2	+	19	2294	c.2272A>C	c.(2272-2274)AAG>CAG	p.K758Q	MCF2L_uc001vsq.2_Missense_Mutation_p.K758Q|MCF2L_uc010tjr.1_Missense_Mutation_p.K701Q|MCF2L_uc001vsr.2_Missense_Mutation_p.K705Q|MCF2L_uc001vss.3_Missense_Mutation_p.K699Q|MCF2L_uc010tjs.1_Missense_Mutation_p.K699Q|MCF2L_uc001vst.1_Missense_Mutation_p.K663Q	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	731	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	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	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)				CTGTCAGAACAAGCCCCGCTC	0.567													C	113739245	A	C	113739245	3	2	189	1	0	0	0	0	1	0	0	0	9379	131	5	5	2441	5	MCF2L	13	113739245	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20581	113739245	1430633	3418	101275											
ADPRHL1	113622	broad.mit.edu	37	chr13	114083383	114083383	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcgaacgacacaaacaggGccgtgcacagggagcccagg	15	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:114083383G>C	uc001vtq.1	-	4	617	c.530C>G	c.(529-531)GCC>GGC	p.A177G	ADPRHL1_uc001vtp.1_Missense_Mutation_p.A95G	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	177					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CACAAACAGGGCCGTGCACAG	0.682													C	114083383	G	C	114083383	3	2	189	1	0	0	0	0	1	0	0	0	332	1203	42	5	550	5	ADPRHL1	13	114083383	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	344138	114083383	1086495	3419	101276											
TFDP1	7027	broad.mit.edu	37	chr13	114287550	114287550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacgaagtggcagacgagCtggttgcggagttcagtgct	15	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:114287550C>T	uc001vtw.2	+	6	636	c.424C>T	c.(424-426)CTG>TTG	p.L142L	TFDP1_uc010tkd.1_Silent_p.L47L|TFDP1_uc010tke.1_Silent_p.L47L|TFDP1_uc001vty.3_Silent_p.L142L|TFDP1_uc001vtx.2_Silent_p.L22L|TFDP1_uc010agx.2_Silent_p.L142L	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	142	Potential.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGCAGACGAGCTGGTTGCGGA	0.587										TSP Lung(29;0.18)			T	114287550	C	T	114287550	2	4	189	1	0	0	0	0	0	0	0	1	15794	796	28	2		2	TFDP1	13	114287550	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	204167	114287550	882328	3420	101277											
FAM70B	348013	broad.mit.edu	37	chr13	114469097	114469097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccccacagaagggctttCgaggaggaagaagacgtcgc	13	12	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:114469097C>T	uc001vuh.2	+	2	83	c.56C>T	c.(55-57)TCG>TTG	p.S19L	FAM70B_uc010tkh.1_Missense_Mutation_p.S19L	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	19						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAAGGGCTTTCGAGGAGGAAG	0.637													T	114469097	C	T	114469097	3	4	189	1	0	0	0	0	1	0	0	0	5606	893	31	1	62	1	FAM70B	13	114469097	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	181547	114469097	700781	3421	101278											
GAS6	2621	broad.mit.edu	37	chr13	114523949	114523949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacctccagtgtcatgcagCcgcggtagaacgcggtgact	13	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:114523949C>T	uc001vud.2	-	15	2078	c.1925G>A	c.(1924-1926)GGC>GAC	p.G642D	GAS6_uc001vug.2_Missense_Mutation_p.G343D|GAS6_uc001vuf.2_Missense_Mutation_p.G369D	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	685	Laminin G-like 2.				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)	4	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)				TGTCATGCAGCCGCGGTAGAA	0.667													T	114523949	C	T	114523949	3	4	189	1	0	0	0	0	1	0	0	0	6249	739	26	2	115	2	GAS6	13	114523949	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	54852	114523949	645929	3422	101279											
CDC16	8881	broad.mit.edu	37	chr13	115022679	115022679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttttgttatgcatgaggtCggcgtggttgcatttcagaa	12	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:115022679C>T	uc001vuk.1	+	13	1422	c.1224C>T	c.(1222-1224)GTC>GTT	p.V408V	CDC16_uc001vul.1_Silent_p.V408V|CDC16_uc001vum.1_Silent_p.V314V|CDC16_uc001vun.1_Silent_p.V407V|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	408	TPR 5.				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				0	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)			TGCATGAGGTCGGCGTGGTTG	0.423													T	115022679	C	T	115022679	2	4	189	1	0	0	0	0	0	0	0	1	3058	871	31	1		1	CDC16	13	115022679	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	498730	115022679	147199	3423	101280											
UPF3A	65110	broad.mit.edu	37	chr13	115051798	115051798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctagaatatcctgcagtggTagagtttgctccattccaga	9	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr13:115051798T>C	uc001vup.2	+	4	480	c.443T>C	c.(442-444)GTA>GCA	p.V148A	UPF3A_uc001vuq.2_Intron|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA|UPF3A_uc001vut.2_5'UTR|UPF3A_uc001vuu.2_5'UTR	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	148					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	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)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CCTGCAGTGGTAGAGTTTGCT	0.408													C	115051798	T	C	115051798	3	2	189	1	0	0	0	0	1	0	0	0	17002	1638	57	3	457	3	UPF3A	13	115051798	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	29119	115051798	118080	3424	101281											
OR4K2	390431	broad.mit.edu	37	chr14	20344705	20344705	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcacaaaaccatctcTtttgatggctgccttaccca	6	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:20344705T>A	uc001vwh.1	+	1	279	c.279T>A	c.(277-279)TCT>TCA	p.S93S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAACCATCTCTTTTGATGGCT	0.393													A	20344705	T	A	20344705	2	1	189	1	0	0	0	0	0	0	0	1	11072	1596	56	5		5	OR4K2	14	20344705	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08		20344705	87004835	3425	101282											
OR4K17	390436	broad.mit.edu	37	chr14	20586234	20586234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcttgcctgtatagacatAtattttgtacaggtagtcat	8	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:20586234A>G	uc001vwo.1	+	1	669	c.669A>G	c.(667-669)ATA>ATG	p.I223M		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTATAGACATATATTTTGTAC	0.403													G	20586234	A	G	20586234	3	3	189	1	0	0	0	0	1	0	0	0	11071	439	16	3	671	3	OR4K17	14	20586234	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	241529	20586234	86763306	3426	101283											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20781885	20781885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtatttgctgagtatAtatcttctccatctgtttca	6	8	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:20781885A>G	uc001vwv.2	-	6	1022	c.373T>C	c.(373-375)TAT>CAT	p.Y125H	CCNB1IP1_uc001vww.2_Missense_Mutation_p.Y125H|CCNB1IP1_uc001vwx.2_Missense_Mutation_p.Y125H|CCNB1IP1_uc001vwy.2_Missense_Mutation_p.Y125H|CCNB1IP1_uc001vwz.2_Missense_Mutation_p.Y125H	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1 isoform 3	125						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	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)		TGCTGAGTATATATCTTCTCC	0.378			T	HMGA2	leiomyoma								G	20781885	A	G	20781885	3	3	189	1	0	0	0	0	1	0	0	0	2912	449	16	3	468	3	CCNB1IP1	14	20781885	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	195651	20781885	86567655	3427	101284											
APEX1	328	broad.mit.edu	37	chr14	20923812	20923812	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtaacgggaatgccgaAgcgtgggaaaaagggagcgg	18	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:20923812A>G	uc001vxg.2	+	2	340	c.8A>G	c.(7-9)AAG>AGG	p.K3R	OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Missense_Mutation_p.K3R|APEX1_uc001vxi.2_Missense_Mutation_p.K3R|APEX1_uc001vxj.2_Missense_Mutation_p.K3R	NM_001641	NP_001632	P27695	APEX1_HUMAN	APEX nuclease 1	3	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				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			ovary(2)|breast(2)	4	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)	GGAATGCCGAAGCGTGGGAAA	0.552								Direct_reversal_of_damage|Other_BER_factors					G	20923812	A	G	20923812	3	3	189	1	0	0	0	0	1	0	0	0	769	72	3	3	10	3	APEX1	14	20923812	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	141927	20923812	86425728	3428	101285											
RNASE9	390443	broad.mit.edu	37	chr14	21025069	21025069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtctggcgggccctgTactaaaaaatttttccaaac	10	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21025069T>C	uc010aho.2	-	4	319	c.160A>G	c.(160-162)ACA>GCA	p.T54A	RNASE9_uc001vxq.3_Missense_Mutation_p.T59A|RNASE9_uc010ahp.2_Missense_Mutation_p.T59A|RNASE9_uc010ahq.2_Missense_Mutation_p.T59A|RNASE9_uc010ahr.2_Missense_Mutation_p.T59A|RNASE9_uc010ahs.2_Missense_Mutation_p.T54A|RNASE9_uc010aht.2_Missense_Mutation_p.T54A|RNASE9_uc010ahu.2_Missense_Mutation_p.T54A	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	54						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GCGGGCCCTGTACTAAAAAAT	0.388													C	21025069	T	C	21025069	3	2	189	1	0	0	0	0	1	0	0	0	13410	1638	57	3	461	3	RNASE9	14	21025069	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	101257	21025069	86324471	3429	101286											
OR6S1	341799	broad.mit.edu	37	chr14	21109390	21109390	+	Frame_Shift_Del	DEL	C	C	-													gaccaagcacagggacgagtCcccccacccagcaggccaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21109390delC	uc001vxv.1	-	1	461	c.461delG	c.(460-462)GGAfs	p.G154fs		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGGGACGAGTCCCCCCACCCA	0.607													-	21109390	C	-	21109390	7	5	189	1	0	1	0	1	0	0	0	0	11209	855	30	0	538	0	OR6S1	14	21109390	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	84321	21109390	86240150	3430	101287											
METT11D1	64745	broad.mit.edu	37	chr14	21460342	21460342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacgcactacgtaaaactAcctaccattggcaagaactg	6	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21460342A>G	uc001vyn.2	+	4	621	c.424A>G	c.(424-426)ACC>GCC	p.T142A	METT11D1_uc010tlk.1_Silent_p.L152L|METT11D1_uc001vym.2_Missense_Mutation_p.T142A|METT11D1_uc001vyo.2_Missense_Mutation_p.T142A|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	142					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGTAAAACTACCTACCATTG	0.478													G	21460342	A	G	21460342	3	3	189	1	0	0	0	0	1	0	0	0	9491	391	14	3	438	3	METT11D1	14	21460342	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	350952	21460342	85889198	3431	101288											
NDRG2	57447	broad.mit.edu	37	chr14	21486152	21486152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgatactcactgtagcCcatgccttgcaggaagtact	9	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21486152C>T	uc001vyy.2	-	16	1093	c.943G>A	c.(943-945)GGC>AGC	p.G315S	NDRG2_uc010tll.1_Missense_Mutation_p.G311S|NDRG2_uc001vyt.2_Missense_Mutation_p.G228S|NDRG2_uc001vyu.2_Missense_Mutation_p.G272S|NDRG2_uc001vyv.2_Missense_Mutation_p.G301S|NDRG2_uc001vyw.2_Missense_Mutation_p.G301S|NDRG2_uc001vzb.2_Missense_Mutation_p.G255S|NDRG2_uc001vyx.2_Missense_Mutation_p.G315S|NDRG2_uc001vza.2_Missense_Mutation_p.G301S|NDRG2_uc001vyz.2_Missense_Mutation_p.G301S|NDRG2_uc001vzc.2_Missense_Mutation_p.G285S|NDRG2_uc001vze.2_Missense_Mutation_p.G315S|NDRG2_uc001vzd.2_Missense_Mutation_p.G315S|NDRG2_uc001vzg.2_Missense_Mutation_p.G301S|NDRG2_uc001vzf.2_Missense_Mutation_p.G301S|NDRG2_uc010aig.2_Missense_Mutation_p.G304S	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	315					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	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)		TCACTGTAGCCCATGCCTTGC	0.552													T	21486152	C	T	21486152	3	4	189	1	0	0	0	0	1	0	0	0	10252	623	22	4	180	4	NDRG2	14	21486152	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	25810	21486152	85863388	3432	101289											
RNASE13	440163	broad.mit.edu	37	chr14	21502245	21502245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacataatggatctttgggCaatctgaattttgcatcttg	8	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21502245C>T	uc001vzj.2	-	2	341	c.203G>A	c.(202-204)TGC>TAC	p.C68Y	NDRG2_uc010tll.1_Intron	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 precursor	68						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)	1	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)		GATCTTTGGGCAATCTGAATT	0.433													T	21502245	C	T	21502245	3	4	189	1	0	0	0	0	1	0	0	0	13403	710	25	2	271	2	RNASE13	14	21502245	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	16093	21502245	85847295	3433	101290											
RPGRIP1	57096	broad.mit.edu	37	chr14	21771652	21771652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcctaaagatgaaaaTtttgaacagagaagctcatt	9	5	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21771652T>C	uc001wag.2	+	5	750	c.750T>C	c.(748-750)AAT>AAC	p.N250N		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	250					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	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)		AAGATGAAAATTTTGAACAGA	0.473													C	21771652	T	C	21771652	2	2	189	1	0	0	0	0	0	0	0	1	13549	1490	52	3		3	RPGRIP1	14	21771652	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	269407	21771652	85577888	3434	101291											
SUPT16H	11198	broad.mit.edu	37	chr14	21831045	21831045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgtagatcttcatttcccGaatatgtggttccttaggca	9	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21831045G>A	uc001wao.2	-	14	1912	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	525					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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCATTTCCCGAATATGTGGT	0.408													A	21831045	G	A	21831045	3	1	189	1	0	0	0	0	1	0	0	0	15393	1057	37	1	1622	1	SUPT16H	14	21831045	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	59393	21831045	85518495	3435	101292											
SUPT16H	11198	broad.mit.edu	37	chr14	21852192	21852192	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccaatgacccggaagTatcgacctcaaagatgccct	7	15	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21852192T>C	uc001wao.2	-	1	234	c.-105A>G	c.(-107--103)ATACT>ATGCT		SUPT16H_uc001wap.2_Translation_Start_Site|SUPT16H_uc001waq.1_Translation_Start_Site	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation						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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GACCCGGAAGTATCGACCTCA	0.507													C	21852192	T	C	21852192	1	2	189	1	0	0	0	0	0	0	0	0	15393	1653	57	3		3	SUPT16H	14	21852192	Translation_Start_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	21147	21852192	85497348	3436	101293											
CHD8	57680	broad.mit.edu	37	chr14	21870578	21870579	+	Frame_Shift_Ins	INS	-	-	TC													aggctggccttatcaaacatINSctctctctcgtaggaattac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21870577_21870578A>ATC	uc001war.2	-	17	3864_3865	c.3799_3800T>GAT	c.(3799-3801)atgfs	p.M1267fs	CHD8_uc001was.2_Frame_Shift_Ins_p.M988fs|CHD8_uc001wav.1_Frame_Shift_Ins_p.M430fs	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1267	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|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|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|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)		CTTATCAAACATCTCTCTCTCG	0.475													TC	21870579	-	TC	21870578	7	5	189	1	0	1	1	0	0	0	0	0	3331	1435	50	0	4026	0	CHD8	14	21870578	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	18386	21870578	85478962	3437	101294											
RAB2B	84932	broad.mit.edu	37	chr14	21931909	21931909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcttctctcttcacatccCtgcgggactctaggtcactg	7	15	6	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:21931909C>A	uc010tlt.1	-	6	481	c.380G>T	c.(379-381)AGG>ATG	p.R127M	RAB2B_uc010tls.1_Missense_Mutation_p.R81M|RAB2B_uc001wax.2_Missense_Mutation_p.R62M|RAB2B_uc010ain.2_Missense_Mutation_p.R18M	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	127					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CTTCACATCCCTGCGGGACTC	0.403													A	21931909	C	A	21931909	3	1	189	1	0	0	0	0	1	0	0	0	12918	681	24	5	282	5	RAB2B	14	21931909	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61331	21931909	85417631	3438	101295											
ABHD4	63874	broad.mit.edu	37	chr14	23072501	23072501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatctgcttggcttcgggCgaagctcaaggccagcattc	12	12	2	0	rs148116289		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23072501C>T	uc001wgm.2	+	3	388	c.319C>T	c.(319-321)CGA>TGA	p.R107*	ABHD4_uc010tmz.1_Nonsense_Mutation_p.R107*|ABHD4_uc010tna.1_Nonsense_Mutation_p.R107*|ABHD4_uc010tnb.1_RNA	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	107					lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGGCTTCGGGCGAAGCTCAAG	0.607													T	23072501	C	T	23072501	4	4	189	1	0	0	0	0	0	1	0	0	84	760	27	1	329	1	ABHD4	14	23072501	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1140592	23072501	84277039	3439	101296											
ABHD4	63874	broad.mit.edu	37	chr14	23072664	23072664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaatcaagtaccctgAtaggtaataaggagatggct	9	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23072664A>C	uc001wgm.2	+	3	551	c.482A>C	c.(481-483)GAT>GCT	p.D161A	ABHD4_uc010tmz.1_Missense_Mutation_p.D161A|ABHD4_uc010tna.1_Missense_Mutation_p.D161A|ABHD4_uc010tnb.1_RNA	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	161					lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AAGTACCCTGATAGGTAATAA	0.502													C	23072664	A	C	23072664	3	2	189	1	0	0	0	0	1	0	0	0	84	333	12	5	492	5	ABHD4	14	23072664	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	163	23072664	84276876	3440	101297											
REM2	161253	broad.mit.edu	37	chr14	23354218	23354218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgctcacgaaccggagAacccaggtatttggggaagc	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23354218A>C	uc001whf.1	+	2	504	c.439A>C	c.(439-441)AAC>CAC	p.N147H	REM2_uc010tnd.1_Missense_Mutation_p.N139H	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	rad and gem related GTP binding protein 2	147					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		CGAACCGGAGAACCCAGGTAT	0.617													C	23354218	A	C	23354218	3	2	189	1	0	0	0	0	1	0	0	0	13223	246	9	5	445	5	REM2	14	23354218	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	281554	23354218	83995322	3441	101298											
CDH24	64403	broad.mit.edu	37	chr14	23519067	23519067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcacacacaaaagtatcGtagggctcagccagctgggg	13	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23519067G>A	uc001wil.2	-	10	1823	c.1563C>T	c.(1561-1563)TAC>TAT	p.Y521Y	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Silent_p.Y483Y	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	521	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CAAAAGTATCGTAGGGCTCAG	0.597													A	23519067	G	A	23519067	2	1	189	1	0	0	0	0	0	0	0	1	3109	1140	40	1		1	CDH24	14	23519067	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	164849	23519067	83830473	3442	101299											
ACIN1	22985	broad.mit.edu	37	chr14	23549358	23549358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagcatctgtattaggagGagataactgaatgaggacag	13	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23549358G>A	uc001wit.3	-	6	1688	c.1360C>T	c.(1360-1362)CCT>TCT	p.P454S	ACIN1_uc001wis.3_Missense_Mutation_p.P136S|ACIN1_uc010akg.2_Missense_Mutation_p.P454S|ACIN1_uc010tnj.1_Missense_Mutation_p.P414S	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	454					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTATTAGGAGGAGATAACTGA	0.502													A	23549358	G	A	23549358	3	1	189	1	0	0	0	0	1	0	0	0	142	1174	41	4	2868	4	ACIN1	14	23549358	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	30291	23549358	83800182	3443	101300											
EFS	10278	broad.mit.edu	37	chr14	23828545	23828545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggtggacatagtcaTactcctcggccatcggaatg	10	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23828545T>C	uc001wjo.2	-	4	1750	c.1142A>G	c.(1141-1143)TAT>TGT	p.Y381C	EFS_uc001wjp.2_Missense_Mutation_p.Y288C|EFS_uc010tnm.1_Missense_Mutation_p.Y212C	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	381					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GACATAGTCATACTCCTCGGC	0.642													C	23828545	T	C	23828545	3	2	189	1	0	0	0	0	1	0	0	0	4959	1406	49	3	555	3	EFS	14	23828545	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	279187	23828545	83520995	3444	101301											
MYH6	4624	broad.mit.edu	37	chr14	23861786	23861786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctggttttccttcagTttcttctgtagttgaagggc	10	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23861786T>C	uc001wjv.2	-	25	3394	c.3327A>G	c.(3325-3327)AAA>AAG	p.K1109K		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1109	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTTCCTTCAGTTTCTTCTGTA	0.502													C	23861786	T	C	23861786	2	2	189	1	0	0	0	0	0	0	0	1	10038	1722	60	3		3	MYH6	14	23861786	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	33241	23861786	83487754	3445	101302											
MYH7	4625	broad.mit.edu	37	chr14	23885260	23885260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttctgggcctcggcggCcatgcggttggcgtggctga	17	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23885260C>T	uc001wjx.2	-	34	5012	c.4906G>A	c.(4906-4908)GCC>ACC	p.A1636T		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1636	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGGCGGCCATGCGGTTG	0.607													T	23885260	C	T	23885260	3	4	189	1	0	0	0	0	1	0	0	0	10039	739	26	2	929	2	MYH7	14	23885260	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23474	23885260	83464280	3446	101303											
NGDN	25983	broad.mit.edu	37	chr14	23946446	23946446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgatggtgcgtttgagcGtcagtaagcgagagaaagga	16	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:23946446G>A	uc001wjy.2	+	9	778	c.751G>A	c.(751-753)GTC>ATC	p.V251I	NGDN_uc001wjz.2_Missense_Mutation_p.V251I|NGDN_uc001wka.2_RNA	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	251					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTTTGAGCGTCAGTAAGCG	0.498													A	23946446	G	A	23946446	3	1	189	1	0	0	0	0	1	0	0	0	10393	1145	40	1	785	1	NGDN	14	23946446	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	61186	23946446	83403094	3447	101304											
CPNE6	9362	broad.mit.edu	37	chr14	24542843	24542843	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacggagccaccagccccCgaaatgataccttcctcggc	10	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:24542843C>T	uc001wll.2	+	3	403	c.304C>T	c.(304-306)CGA>TGA	p.R102*	CPNE6_uc010tnv.1_Nonsense_Mutation_p.R157*|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	102	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		CACCAGCCCCCGAAATGATAC	0.607													T	24542843	C	T	24542843	4	4	189	1	0	0	0	0	0	1	0	0	3816	644	23	1	310	1	CPNE6	14	24542843	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	596397	24542843	82806697	3448	101305											
DCAF11	80344	broad.mit.edu	37	chr14	24588368	24588368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggccagatgagcgtcGctttgctgtcttctccattg	10	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:24588368G>A	uc001wlv.2	+	9	1074	c.794G>A	c.(793-795)CGC>CAC	p.R265H	DCAF11_uc001wlw.2_Missense_Mutation_p.R265H|DCAF11_uc001wlz.2_Missense_Mutation_p.R165H|DCAF11_uc001wly.2_Missense_Mutation_p.R221H|DCAF11_uc001wme.2_Missense_Mutation_p.R225H|DCAF11_uc010tny.1_Missense_Mutation_p.R132H|DCAF11_uc001wmd.2_Missense_Mutation_p.R265H|DCAF11_uc001wmc.2_Missense_Mutation_p.R165H|DCAF11_uc001wmb.3_Missense_Mutation_p.R239H|DCAF11_uc001wma.3_Missense_Mutation_p.R265H	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	265	WD 3.					CUL4 RING ubiquitin ligase complex	protein binding				0						GATGAGCGTCGCTTTGCTGTC	0.458													A	24588368	G	A	24588368	3	1	189	1	0	0	0	0	1	0	0	0	4262	1087	38	1	824	1	DCAF11	14	24588368	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	45525	24588368	82761172	3449	101306											
IRF9	10379	broad.mit.edu	37	chr14	24634066	24634066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctttgccccatccccaTctcctggaatgcaccccagg	8	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:24634066T>C	uc001wmq.2	+	7	1020	c.893T>C	c.(892-894)ATC>ACC	p.I298T	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Intron	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	298					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CCCATCCCCATCTCCTGGAAT	0.657													C	24634066	T	C	24634066	3	2	189	1	0	0	0	0	1	0	0	0	7837	1435	50	3	915	3	IRF9	14	24634066	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	45698	24634066	82715474	3450	101307											
GMPR2	51292	broad.mit.edu	37	chr14	24707913	24707913	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggagcagctaagctcaaaGagttgagcaggagaactacc	13	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:24707913G>T	uc001wnr.2	+	10	1358	c.976G>T	c.(976-978)GAG>TAG	p.E326*	GMPR2_uc001wnv.2_Nonsense_Mutation_p.E163*|GMPR2_uc001wns.2_Nonsense_Mutation_p.E326*|GMPR2_uc001wnt.2_Nonsense_Mutation_p.E293*|GMPR2_uc001wnu.2_Nonsense_Mutation_p.E351*|GMPR2_uc001wnw.2_Nonsense_Mutation_p.E326*|GMPR2_uc010all.2_Nonsense_Mutation_p.E298*|GMPR2_uc001wnx.2_Nonsense_Mutation_p.E344*|GMPR2_uc010tod.1_Nonsense_Mutation_p.E293*|GMPR2_uc010alk.1_Nonsense_Mutation_p.E387*|GMPR2_uc010toe.1_Nonsense_Mutation_p.E387*	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	326					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)		TAAGCTCAAAGAGTTGAGCAG	0.512													T	24707913	G	T	24707913	4	4	189	1	0	0	0	0	0	1	0	0	6497	943	33	5	1064	5	GMPR2	14	24707913	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	73847	24707913	82641627	3451	101308											
TGM1	7051	broad.mit.edu	37	chr14	24723893	24723893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggagaggtctggggtgcGcagacggaaggtgtgctgct	21	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:24723893G>A	uc001wod.2	-	13	2189	c.2065C>T	c.(2065-2067)CGC>TGC	p.R689C	TGM1_uc010tog.1_Missense_Mutation_p.R247C	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	689					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCTGGGGTGCGCAGACGGAAG	0.632													A	24723893	G	A	24723893	3	1	189	1	0	0	0	0	1	0	0	0	15826	1087	38	1	400	1	TGM1	14	24723893	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	15980	24723893	82625647	3452	101309											
TGM1	7051	broad.mit.edu	37	chr14	24729847	24729848	+	Frame_Shift_Ins	INS	-	-	C													ggctttccagcctccactgcINScccccttgcccactgggatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:24729846_24729847G>GC	uc001wod.3	-	3	690_691	c.566_567C>GC	c.(565-567)ggcfs	p.G189fs	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	189					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCCTCCACTGCCCCCCTTGCC	0.589													C	24729848	-	C	24729847	7	5	189	1	0	1	1	0	0	0	0	0	15826	739	26	0	1935	0	TGM1	14	24729847	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	5954	24729847	82619693	3453	101310											
C14orf21	161424	broad.mit.edu	37	chr14	24773340	24773340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctccactcctggtcttGtacttcgaagtctgggtgcc	9	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:24773340G>A	uc001wol.1	+	8	1567	c.1504G>A	c.(1504-1506)GTA>ATA	p.V502I	C14orf21_uc001wom.1_Missense_Mutation_p.V53I	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	502							RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		TCCTGGTCTTGTACTTCGAAG	0.602													A	24773340	G	A	24773340	3	1	189	1	0	0	0	0	1	0	0	0	1769	1377	48	4	1534	4	C14orf21	14	24773340	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	43493	24773340	82576200	3454	101311											
FOXG1	2290	broad.mit.edu	37	chr14	29237117	29237117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacggcatctacgagttcaTcatgaagaacttcccttact	6	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:29237117T>C	uc001wqe.2	+	1	831	c.632T>C	c.(631-633)ATC>ACC	p.I211T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	211	Fork-head.				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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TACGAGTTCATCATGAAGAAC	0.572													C	29237117	T	C	29237117	3	2	189	1	0	0	0	0	1	0	0	0	6007	1435	50	3	634	3	FOXG1	14	29237117	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4463777	29237117	78112423	3455	101312											
FOXG1	2290	broad.mit.edu	37	chr14	29237605	29237605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaacggggagatcccgTacgccacgcaccacctcacg	11	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:29237605T>C	uc001wqe.2	+	1	1319	c.1120T>C	c.(1120-1122)TAC>CAC	p.Y374H		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	374					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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGAGATCCCGTACGCCACGCA	0.677													C	29237605	T	C	29237605	3	2	189	1	0	0	0	0	1	0	0	0	6007	1638	57	3	1122	3	FOXG1	14	29237605	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	488	29237605	78111935	3456	101313											
PRKD1	5587	broad.mit.edu	37	chr14	30066890	30066890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcaggagccaggtaagcGggggtacccaccactgacct	12	14	1	1	rs147092748		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:30066890G>A	uc001wqh.2	-	16	2422	c.2241C>T	c.(2239-2241)CCC>CCT	p.P747P		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCAGGTAAGCGGGGGTACCCA	0.488													A	30066890	G	A	30066890	2	1	189	1	0	0	0	0	0	0	0	1	12518	1103	39	1		1	PRKD1	14	30066890	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	829285	30066890	77282650	3457	101314											
STRN3	29966	broad.mit.edu	37	chr14	31364949	31364949	+	Frame_Shift_Del	DEL	T	T	-													agctaccatagaatggatcaTtttacctaaacaaaacataa					rs114922597	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:31364948_31364948AT>A	uc001wqu.2	-	16	2360	c.2144_2144AT>T	c.(2143-2145)atgfs	p.M715fs	STRN3_uc001wqv.2_Frame_Shift_Del_p.M631fs|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	715					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	Golgi apparatus|cytoplasm|dendrite|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)		AGAATGGATCATTTTACCTAA	0.333													-	31364949	T	-	31364949	7	5	189	1	0	1	0	1	0	0	0	0	15329	1493	52	0	258	0	STRN3	14	31364949	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	1298059	31364949	75984591	3458	101315											
HECTD1	25831	broad.mit.edu	37	chr14	31597063	31597063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggctggtggttaaagTgttacttaaagattgaccaa	12	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:31597063T>C	uc001wrc.1	-	26	5398	c.4909A>G	c.(4909-4911)ACT>GCT	p.T1637A	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.T1105A	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1637	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		GTGGTTAAAGTGTTACTTAAA	0.373													C	31597063	T	C	31597063	3	2	189	1	0	0	0	0	1	0	0	0	7039	1696	59	3	2995	3	HECTD1	14	31597063	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	232114	31597063	75752477	3459	101316											
HECTD1	25831	broad.mit.edu	37	chr14	31597105	31597105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaactgttgttgctgTagctacattgctgctgctag	10	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:31597105T>C	uc001wrc.1	-	26	5356	c.4867A>G	c.(4867-4869)ACA>GCA	p.T1623A	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.T1091A	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1623	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		GTTGTTGCTGTAGCTACATTG	0.433													C	31597105	T	C	31597105	3	2	189	1	0	0	0	0	1	0	0	0	7039	1638	57	3	3037	3	HECTD1	14	31597105	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	42	31597105	75752435	3460	101317											
HECTD1	25831	broad.mit.edu	37	chr14	31598572	31598572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcagggtcgtaccctggTgcaagcttgaggtcaaattt	12	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:31598572T>C	uc001wrc.1	-	25	4494	c.4005A>G	c.(4003-4005)GCA>GCG	p.A1335A	HECTD1_uc001wrb.1_5'Flank|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1335	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		CGTACCCTGGTGCAAGCTTGA	0.507													C	31598572	T	C	31598572	2	2	189	1	0	0	0	0	0	0	0	1	7039	1683	59	3		3	HECTD1	14	31598572	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1467	31598572	75750968	3461	101318											
HECTD1	25831	broad.mit.edu	37	chr14	31605831	31605831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaatgcagtttcaccaGgtgcacgttccaaccgaaat	7	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:31605831G>A	uc001wrc.1	-	20	3509	c.3020C>T	c.(3019-3021)CCT>CTT	p.P1007L	HECTD1_uc001wrd.1_Missense_Mutation_p.P522L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1007					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		AGTTTCACCAGGTGCACGTTC	0.403													A	31605831	G	A	31605831	3	1	189	1	0	0	0	0	1	0	0	0	7039	1000	35	4	4908	4	HECTD1	14	31605831	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7259	31605831	75743709	3462	101319											
ARHGAP5	394	broad.mit.edu	37	chr14	32562839	32562839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgacacagaagcaccAcctccttatagtccaattgg	8	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:32562839A>G	uc001wrl.2	+	2	3203	c.2964A>G	c.(2962-2964)CCA>CCG	p.P988P	ARHGAP5_uc001wrm.2_Silent_p.P988P|ARHGAP5_uc001wrn.2_Silent_p.P988P|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	988					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		CAGAAGCACCACCTCCTTATA	0.413													G	32562839	A	G	32562839	2	3	189	1	0	0	0	0	0	0	0	1	886	146	6	3		3	ARHGAP5	14	32562839	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	957008	32562839	74786701	3463	101320											
AKAP6	9472	broad.mit.edu	37	chr14	33005003	33005003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagctttctctgaagagAcaaaagaggtgagtgttttc	11	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:33005003A>G	uc001wrq.2	+	3	738	c.568A>G	c.(568-570)ACA>GCA	p.T190A	AKAP6_uc010aml.2_Missense_Mutation_p.T187A	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	190					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		CTCTGAAGAGACAAAAGAGGT	0.453													G	33005003	A	G	33005003	3	3	189	1	0	0	0	0	1	0	0	0	455	275	10	3	574	3	AKAP6	14	33005003	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	442164	33005003	74344537	3464	101321											
AKAP6	9472	broad.mit.edu	37	chr14	33015103	33015103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaaagaggcaaatggTtgatctaaagcctgagatga	14	4	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:33015103T>C	uc001wrq.2	+	4	1414	c.1244T>C	c.(1243-1245)GTT>GCT	p.V415A	AKAP6_uc010aml.2_Missense_Mutation_p.V412A	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	415					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		AGGCAAATGGTTGATCTAAAG	0.453													C	33015103	T	C	33015103	3	2	189	1	0	0	0	0	1	0	0	0	455	1725	60	3	1254	3	AKAP6	14	33015103	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10100	33015103	74334437	3465	101322											
NPAS3	64067	broad.mit.edu	37	chr14	34243648	34243648	+	Frame_Shift_Del	DEL	C	C	-													ttgttgcgcatgccttgcctCcccctacgatcaatgaagtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:34243647_34243647TC>T	uc001wru.3	+	7	1021	c.957_957TC>T	c.(955-957)cctfs	p.P319fs	NPAS3_uc001wrs.3_Frame_Shift_Del_p.P306fs|NPAS3_uc001wrv.3_Frame_Shift_Del_p.P289fs|NPAS3_uc001wrt.3_Frame_Shift_Del_p.P287fs	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	319	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S319I(1)		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)		ATGCCTTGCCTCCCCCTACGA	0.493													-	34243648	C	-	34243648	7	5	189	1	0	1	0	1	0	0	0	0	10564	855	30	0	1043	0	NPAS3	14	34243648	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	1228545	34243648	73105892	3466	101323											
BAZ1A	11177	broad.mit.edu	37	chr14	35245571	35245571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatattggtacaggctatgGcactttggattttttctaag	10	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:35245571G>A	uc001wsk.2	-	18	2955	c.2387C>T	c.(2386-2388)GCC>GTC	p.A796V	BAZ1A_uc001wsl.2_Missense_Mutation_p.A764V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	796	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		ACAGGCTATGGCACTTTGGAT	0.413													A	35245571	G	A	35245571	3	1	189	1	0	0	0	0	1	0	0	0	1329	1203	42	2	2323	2	BAZ1A	14	35245571	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1001923	35245571	72103969	3467	101324											
PPP2R3C	55012	broad.mit.edu	37	chr14	35577396	35577396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaattcttccatatgAatctgtatgaaggagtttag	10	4	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:35577396A>G	uc001wss.2	-	5	805	c.451T>C	c.(451-453)TCA>CCA	p.S151P	PPP2R3C_uc001wst.2_Missense_Mutation_p.S35P|PPP2R3C_uc010tpr.1_Missense_Mutation_p.S35P|PPP2R3C_uc001wsu.2_RNA|PPP2R3C_uc010amn.1_Intron|uc001wsv.1_Intron|PPP2R3C_uc001wsw.2_Missense_Mutation_p.S151P|PPP2R3C_uc001wsx.1_Missense_Mutation_p.S151P	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	serine/threonine-protein phosphatase 2A	151						centrosome|nucleus	calcium ion binding			ovary(1)	1	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)		CTTCCATATGAATCTGTATGA	0.318													G	35577396	A	G	35577396	3	3	189	1	0	0	0	0	1	0	0	0	12390	246	9	3	946	3	PPP2R3C	14	35577396	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	331825	35577396	71772144	3468	101325											
KIAA0391	9692	broad.mit.edu	37	chr14	35739731	35739731	+	Frame_Shift_Del	DEL	T	T	-													atgccaagacccaacgcctgTtttttaagtggcagcaggga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:35739730_35739730GT>G	uc001wsy.1	+	6	1908	c.1548_1548GT>G	c.(1546-1548)ctgfs	p.L516fs	KIAA0391_uc010tps.1_Frame_Shift_Del_p.L421fs|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.L500fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Frame_Shift_Del_p.L144fs	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	516					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)		CCCAACGCCTGTTTTTTAAGT	0.468													-	35739731	T	-	35739731	7	5	189	1	0	1	0	1	0	0	0	0	8172	1725	60	0	1571	0	KIAA0391	14	35739731	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	162335	35739731	71609809	3469	101326											
INSM2	84684	broad.mit.edu	37	chr14	36004894	36004894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccattgtgcggagcgcactTccctacagcagatatcaggg	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:36004894T>C	uc001wth.1	+	1	1647	c.1436T>C	c.(1435-1437)TTC>TCC	p.F479S		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	479	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	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)		GGAGCGCACTTCCCTACAGCA	0.687													C	36004894	T	C	36004894	3	2	189	1	0	0	0	0	1	0	0	0	7772	1783	62	3	1438	3	INSM2	14	36004894	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	265163	36004894	71344646	3470	101327											
CTAGE5	4253	broad.mit.edu	37	chr14	39782647	39782647	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagctggagacctataggTattaaatacatttttctggt	9	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:39782647T>C	uc001wvg.3	+	14	1631	c.1295_splice	c.e14+2	p.R432_splice	CTAGE5_uc010tqe.1_Splice_Site_p.R394_splice|CTAGE5_uc001wuz.3_Splice_Site_p.R420_splice|CTAGE5_uc001wuy.3_Splice_Site_p.R352_splice|CTAGE5_uc001wvb.3_Splice_Site_p.R403_splice|CTAGE5_uc001wvc.3_Splice_Site_p.R377_splice|CTAGE5_uc001wva.3_Splice_Site_p.R403_splice|CTAGE5_uc001wvh.3_Splice_Site_p.R432_splice|CTAGE5_uc001wvf.3_Splice_Site_p.R357_splice|CTAGE5_uc001wvi.3_Splice_Site_p.R437_splice|CTAGE5_uc010amz.2_Splice_Site_p.R48_splice|CTAGE5_uc001wvj.3_Splice_Site_p.R403_splice	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1								enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GACCTATAGGTATTAAATACA	0.299													C	39782647	T	C	39782647	5	2	189	1	0	0	0	0	0	0	1	0	3994	1652	57	3	1382	3	CTAGE5	14	39782647	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3777753	39782647	67566893	3471	101328											
C14orf28	122525	broad.mit.edu	37	chr14	45370048	45370048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttgggaatgagcatgAtaattttacaaaaaatcttg	8	3	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:45370048A>G	uc001wvo.2	+	2	676	c.410A>G	c.(409-411)GAT>GGT	p.D137G	C14orf28_uc001wvp.1_Missense_Mutation_p.D137G	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	hypothetical protein LOC122525	137										ovary(1)	1						AATGAGCATGATAATTTTACA	0.388													G	45370048	A	G	45370048	3	3	189	1	0	0	0	0	1	0	0	0	1770	333	12	3	412	3	C14orf28	14	45370048	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5587401	45370048	61979492	3472	101329											
FAM179B	23116	broad.mit.edu	37	chr14	45542710	45542710	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatctcaaccaccacaTatcaaaaagagtttggagga	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:45542710T>C	uc001wvv.2	+	19	5318	c.5109T>C	c.(5107-5109)CAT>CAC	p.H1703H	FAM179B_uc001wvw.2_Silent_p.H1756H|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1703							binding			skin(2)|upper_aerodigestive_tract(1)	3						AACCACCACATATCAAAAAGA	0.348													C	45542710	T	C	45542710	2	2	189	1	0	0	0	0	0	0	0	1	5506	1403	49	3		3	FAM179B	14	45542710	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	172662	45542710	61806830	3473	101330											
FKBP3	2287	broad.mit.edu	37	chr14	45590703	45590703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgtttgaatattagTatcaaaaacagtcccatctt	4	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:45590703T>C	uc010tqf.1	-	4	512	c.439A>G	c.(439-441)ACT>GCT	p.T147A		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	147	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						TGAATATTAGTATCAAAAACA	0.363													C	45590703	T	C	45590703	3	2	189	1	0	0	0	0	1	0	0	0	5909	1638	57	3	251	3	FKBP3	14	45590703	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	47993	45590703	61758837	3474	101331											
FANCM	57697	broad.mit.edu	37	chr14	45636264	45636264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggttcctgatggaatcAacccaaaattacacaaaatg	7	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:45636264A>G	uc001wwd.3	+	11	1999	c.1900A>G	c.(1900-1902)AAC>GAC	p.N634D	FANCM_uc001wwc.2_Missense_Mutation_p.N634D|FANCM_uc010anf.2_Missense_Mutation_p.N608D|FANCM_uc001wwe.3_Missense_Mutation_p.N170D	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	634					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TGATGGAATCAACCCAAAATT	0.393								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	45636264	A	G	45636264	3	3	189	1	0	0	0	0	1	0	0	0	5671	130	5	3	1942	3	FANCM	14	45636264	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	45561	45636264	61713276	3475	101332											
FANCM	57697	broad.mit.edu	37	chr14	45645728	45645728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagcaatagacctctagaTgatctatatggaaggtattt	9	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:45645728T>C	uc001wwd.3	+	14	3870	c.3771T>C	c.(3769-3771)GAT>GAC	p.D1257D	FANCM_uc010anf.2_Silent_p.D1231D|FANCM_uc001wwe.3_Silent_p.D793D|FANCM_uc010ang.2_Silent_p.D471D	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1257					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GACCTCTAGATGATCTATATG	0.313								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	45645728	T	C	45645728	2	2	189	1	0	0	0	0	0	0	0	1	5671	1461	51	3		3	FANCM	14	45645728	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9464	45645728	61703812	3476	101333											
FANCM	57697	broad.mit.edu	37	chr14	45668046	45668046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagtaataaaagtgaggcActccagttttatttaagtat	7	4	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:45668046A>G	uc001wwd.3	+	22	6015	c.5916A>G	c.(5914-5916)GCA>GCG	p.A1972A	FANCM_uc010anf.2_Silent_p.A1946A|FANCM_uc001wwe.3_Silent_p.A1508A|FANCM_uc010ang.2_Silent_p.A1221A	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1972	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						AAAGTGAGGCACTCCAGTTTT	0.343								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	45668046	A	G	45668046	2	3	189	1	0	0	0	0	0	0	0	1	5671	146	6	3		3	FANCM	14	45668046	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	22318	45668046	61681494	3477	101334											
KLHDC1	122773	broad.mit.edu	37	chr14	50195672	50195672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccacagccacgagccgCgcatacatgtgcagttcttg	9	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:50195672C>T	uc001www.2	+	7	624	c.596C>T	c.(595-597)GCG>GTG	p.A199V	SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.A154V|KLHDC1_uc010tqh.1_Missense_Mutation_p.A114V	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	199						cytoplasm				pancreas(1)	1	all_epithelial(31;0.00244)|Breast(41;0.00964)					CCACGAGCCGCGCATACATGT	0.413													T	50195672	C	T	50195672	3	4	189	1	0	0	0	0	1	0	0	0	8354	768	27	1	622	1	KLHDC1	14	50195672	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	4527626	50195672	57153868	3478	101335											
KLHDC2	23588	broad.mit.edu	37	chr14	50246358	50246358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgcctgtgcaactgtcGgaaatagaggcttcgtgttt	11	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:50246358G>A	uc001wwx.2	+	7	1079	c.679G>A	c.(679-681)GGA>AGA	p.G227R	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.G227R|KLHDC2_uc010anp.2_Missense_Mutation_p.G227R	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	227						nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGCAACTGTCGGAAATAGAGG	0.393													A	50246358	G	A	50246358	3	1	189	1	0	0	0	0	1	0	0	0	8356	1117	39	1	705	1	KLHDC2	14	50246358	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	50686	50246358	57103182	3479	101336											
SDCCAG1	9147	broad.mit.edu	37	chr14	50255966	50255966	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcagagaccctctgtccAcctctaggtttctggggctg	11	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:50255966A>G	uc001wxc.2	-	28	2861	c.2793T>C	c.(2791-2793)GGT>GGC	p.G931G	SDCCAG1_uc010anj.1_Silent_p.G931G|SDCCAG1_uc001wwz.2_Silent_p.G131G|SDCCAG1_uc001wxa.2_Silent_p.G211G|SDCCAG1_uc010tqi.1_Silent_p.G910G|SDCCAG1_uc001wxe.2_Silent_p.G889G	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	931						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		CCCTCTGTCCACCTCTAGGTT	0.418													G	50255966	A	G	50255966	2	3	189	1	0	0	0	0	0	0	0	1	13957	146	6	3		3	SDCCAG1	14	50255966	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9608	50255966	57093574	3480	101337											
ATP5S	27109	broad.mit.edu	37	chr14	50788253	50788253	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtgtggcgtaaagaaActcccatggtcatgtgactc	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:50788253A>G	uc001wxw.1	+	2	785	c.93A>G	c.(91-93)AAA>AAG	p.K31K	ATP5S_uc001wxv.2_Silent_p.K31K|ATP5S_uc001wxx.1_Silent_p.K31K|ATP5S_uc010ant.1_Intron	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	31					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			ovary(1)|skin(1)	2	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		GCGTAAAGAAACTCCCATGGT	0.398													G	50788253	A	G	50788253	2	3	189	1	0	0	0	0	0	0	0	1	1163	40	2	3		3	ATP5S	14	50788253	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	532287	50788253	56561287	3481	101338											
NID2	22795	broad.mit.edu	37	chr14	52520419	52520419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcaggatgagctgggGgaacatccatttccgaaggc	12	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:52520419G>A	uc001wzo.2	-	5	1541	c.1307C>T	c.(1306-1308)CCC>CTC	p.P436L	NID2_uc010tqs.1_Missense_Mutation_p.P436L|NID2_uc010tqt.1_Missense_Mutation_p.P436L|NID2_uc001wzp.2_Missense_Mutation_p.P436L	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	436						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					ATGAGCTGGGGGAACATCCAT	0.547													A	52520419	G	A	52520419	3	1	189	1	0	0	0	0	1	0	0	0	10415	1232	43	4	2892	4	NID2	14	52520419	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1732166	52520419	54829121	3482	101339											
PTGDR	5729	broad.mit.edu	37	chr14	52735128	52735128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgtcggtgctggggtActctgtgctctactccagcc	12	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:52735128A>G	uc001wzq.2	+	1	698	c.596A>G	c.(595-597)TAC>TGC	p.Y199C		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	199	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GTGCTGGGGTACTCTGTGCTC	0.632													G	52735128	A	G	52735128	3	3	189	1	0	0	0	0	1	0	0	0	12741	391	14	3	598	3	PTGDR	14	52735128	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	214709	52735128	54614412	3483	101340											
TXNDC16	57544	broad.mit.edu	37	chr14	52907344	52907345	+	Frame_Shift_Ins	INS	-	-	T													ttaccagtgtcaatattgctINStttttatactgaggatttac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:52907343_52907344C>CT	uc001wzs.3	-	18	2390_2391	c.1941_1942G>AG	c.(1939-1944)aaagcafs	p.K647fs	TXNDC16_uc010tqu.2_Frame_Shift_Ins_p.K642fs|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	647					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)					GTCAATATTGCTTTTTTATACT	0.332													T	52907345	-	T	52907344	7	5	189	1	0	1	1	0	0	0	0	0	16792	1606	56	0	548	0	TXNDC16	14	52907344	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	172216	52907344	54442196	3484	101341											
GPR137C	283554	broad.mit.edu	37	chr14	53101670	53101670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtttaccaaattcgcAaagtttgggctggtatggca	11	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:53101670A>G	uc001wzu.3	+	7	1127	c.1127A>G	c.(1126-1128)CAA>CGA	p.Q376R	GPR137C_uc001wzt.3_Missense_Mutation_p.Q392R	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	376	Cytoplasmic (Potential).					integral to membrane					0	Breast(41;0.0716)					CCAAATTCGCAAAGTTTGGGC	0.418													G	53101670	A	G	53101670	3	3	189	1	0	0	0	0	1	0	0	0	6647	130	5	3	1153	3	GPR137C	14	53101670	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	194326	53101670	54247870	3485	101342											
GNPNAT1	64841	broad.mit.edu	37	chr14	53250196	53250196	+	Frame_Shift_Del	DEL	A	A	-													gttagctgacccaataccttAaaaaaacctagttttgaaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:53250195_53250195TA>T	uc001xab.3	-	2	418	c.163_163TA>A	c.(163-165)aagfs	p.K55fs		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA.	55	N-acetyltransferase.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|cytosol|endosome membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					CCCAATACCTTAAAAAAACCT	0.348													-	53250196	A	-	53250196	7	5	189	1	0	1	0	1	0	0	0	0	6544	359	13	0	408	0	GNPNAT1	14	53250196	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	148526	53250196	54099344	3486	101343											
FERMT2	10979	broad.mit.edu	37	chr14	53325164	53325164	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttttggtcttttgcacgTgttgagagaaatatgtagcc	11	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:53325164T>C	uc001xad.2	-	15	2029	c.1974A>G	c.(1972-1974)ACA>ACG	p.T658T	FERMT2_uc001xac.2_Silent_p.T665T|FERMT2_uc001xae.2_Silent_p.T658T	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	658	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CTTTTGCACGTGTTGAGAGAA	0.398													C	53325164	T	C	53325164	2	2	189	1	0	0	0	0	0	0	0	1	5818	1683	59	3		3	FERMT2	14	53325164	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	74968	53325164	54024376	3487	101344											
BMP4	652	broad.mit.edu	37	chr14	54416799	54416799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgataatttttcagtAccaccttatcatactcatcc	2	13	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:54416799A>G	uc001xal.3	-	3	1365	c.1178T>C	c.(1177-1179)GTA>GCA	p.V393A	BMP4_uc010aoh.2_Missense_Mutation_p.V393A|BMP4_uc001xao.3_Missense_Mutation_p.V393A|BMP4_uc001xan.3_Missense_Mutation_p.V393A	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	393					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				0						ATTTTTCAGTACCACCTTATC	0.428													G	54416799	A	G	54416799	3	3	189	1	0	0	0	0	1	0	0	0	1462	391	14	3	52	3	BMP4	14	54416799	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1091635	54416799	52932741	3488	101345											
CGRRF1	10668	broad.mit.edu	37	chr14	54976688	54976688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaccctgatggctgcggTgtttctggtaacgctttatg	12	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:54976688T>C	uc001xay.2	+	1	102	c.11T>C	c.(10-12)GTG>GCG	p.V4A	CGRRF1_uc010tra.1_Missense_Mutation_p.V4A|CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	4					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						ATGGCTGCGGTGTTTCTGGTA	0.373											OREG0022692	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	54976688	T	C	54976688	3	2	189	1	0	0	0	0	1	0	0	0	3306	1696	59	3	13	3	CGRRF1	14	54976688	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	559889	54976688	52372852	3489	101346											
WDHD1	11169	broad.mit.edu	37	chr14	55434067	55434067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataatatagcaacagcaggGcgtggaagggttgggggaaa	17	4	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:55434067G>A	uc001xbm.1	-	17	2187	c.2109C>T	c.(2107-2109)CGC>CGT	p.R703R	WDHD1_uc010aom.1_Silent_p.R220R|WDHD1_uc001xbn.1_Silent_p.R580R	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	703						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CAACAGCAGGGCGTGGAAGGG	0.388													A	55434067	G	A	55434067	2	1	189	1	0	0	0	0	0	0	0	1	17268	1190	42	2		2	WDHD1	14	55434067	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	457379	55434067	51915473	3490	101347											
EXOC5	10640	broad.mit.edu	37	chr14	57700561	57700561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcactctttgacagagtAttccagcgtcttcaaatata	6	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:57700561A>G	uc001xct.2	-	9	1006	c.755T>C	c.(754-756)ATA>ACA	p.I252T	EXOC5_uc001xcs.2_5'Flank|EXOC5_uc010trg.1_Missense_Mutation_p.I197T|EXOC5_uc010trh.1_Missense_Mutation_p.I187T	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	252					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						TTGACAGAGTATTCCAGCGTC	0.318													G	57700561	A	G	57700561	3	3	189	1	0	0	0	0	1	0	0	0	5307	449	16	3	1411	3	EXOC5	14	57700561	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2266494	57700561	49648979	3491	101348											
NAA30	122830	broad.mit.edu	37	chr14	57863507	57863507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtaggtgccatcgtttGcaagttggatatgcacaaaa	12	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:57863507G>A	uc001xcx.3	+	3	963	c.809G>A	c.(808-810)TGC>TAC	p.C270Y	NAA30_uc010trk.1_Missense_Mutation_p.C12Y|NAA30_uc010aow.2_RNA	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	270	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1						GCCATCGTTTGCAAGTTGGAT	0.398													A	57863507	G	A	57863507	3	1	189	1	0	0	0	0	1	0	0	0	10122	1319	46	2	815	2	NAA30	14	57863507	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	162946	57863507	49486033	3492	101349											
SLC35F4	341880	broad.mit.edu	37	chr14	58056071	58056071	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaagttcttataagtaatTtttacaatctgtgtagttcc	6	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:58056071T>C	uc001xdb.1	-	3	558	c.558A>G	c.(556-558)AAA>AAG	p.K186K	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.K27K	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						TATAAGTAATTTTTACAATCT	0.403													C	58056071	T	C	58056071	2	2	189	1	0	0	0	0	0	0	0	1	14591	1838	64	3		3	SLC35F4	14	58056071	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	192564	58056071	49293469	3493	101350											
KIAA0586	9786	broad.mit.edu	37	chr14	59014534	59014534	+	Frame_Shift_Del	DEL	C	C	-													cactctccgcttcacagatgCcccctgccaagatgtcagtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:59014533_59014533GC>G	uc010trr.2	+	33	5018	c.4774_4774GC>G	c.(4774-4776)gccfs	p.A1592fs	KIAA0586_uc001xdu.4_Frame_Shift_Del_p.M1495fs|KIAA0586_uc010trs.2_Frame_Shift_Del_p.M1425fs|KIAA0586_uc001xdt.4_Frame_Shift_Del_p.M1466fs|KIAA0586_uc001xdv.4_Frame_Shift_Del_p.M1434fs	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCACAGATGCCCCCTGCCA	0.522													-	59014534	C	-	59014534	7	5	189	1	0	1	0	1	0	0	0	0	8186	739	26	0	4421	0	KIAA0586	14	59014534	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	958463	59014534	48335006	3494	101351											
DACT1	51339	broad.mit.edu	37	chr14	59112667	59112667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggctgcccctcaggCgctgcctccgaccttcagag	12	17	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:59112667C>T	uc001xdw.2	+	4	1490	c.1326C>T	c.(1324-1326)GGC>GGT	p.G442G	DACT1_uc010trv.1_Silent_p.G161G|DACT1_uc001xdx.2_Silent_p.G405G|DACT1_uc010trw.1_Silent_p.G161G	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	442					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GCCCCTCAGGCGCTGCCTCCG	0.597													T	59112667	C	T	59112667	2	4	189	1	0	0	0	0	0	0	0	1	4222	755	27	1		1	DACT1	14	59112667	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	98133	59112667	48236873	3495	101352											
DAAM1	23002	broad.mit.edu	37	chr14	59814284	59814284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatccaatgacgaaatcaaAcgggcaattctaacaatgga	7	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:59814284A>G	uc001xdz.1	+	18	2258	c.2133A>G	c.(2131-2133)AAA>AAG	p.K711K	DAAM1_uc001xea.1_Silent_p.K701K	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	711	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACGAAATCAAACGGGCAATTC	0.378													G	59814284	A	G	59814284	2	3	189	1	0	0	0	0	0	0	0	1	4215	40	2	3		3	DAAM1	14	59814284	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	701617	59814284	47535256	3496	101353											
GPR135	64582	broad.mit.edu	37	chr14	59930515	59930515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggtcactgccgtcaccGgctctggtggtccctctcgg	13	14	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:59930515G>A	uc010apj.2	-	1	1545	c.1430C>T	c.(1429-1431)CCG>CTG	p.P477L	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	477	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TGCCGTCACCGGCTCTGGTGG	0.567													A	59930515	G	A	59930515	3	1	189	1	0	0	0	0	1	0	0	0	6644	1116	39	1	58	1	GPR135	14	59930515	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	116231	59930515	47419025	3497	101354											
GPR135	64582	broad.mit.edu	37	chr14	59930686	59930686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctggcttgcagacccGggccctggctgggcaggaaa	16	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:59930686G>A	uc010apj.2	-	1	1374	c.1259C>T	c.(1258-1260)CCG>CTG	p.P420L	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	420	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TTGCAGACCCGGGCCCTGGCT	0.637													A	59930686	G	A	59930686	3	1	189	1	0	0	0	0	1	0	0	0	6644	1116	39	1	229	1	GPR135	14	59930686	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	171	59930686	47418854	3498	101355											
JKAMP	51528	broad.mit.edu	37	chr14	59961870	59961870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatgctttctgactggtAcacgatgctttacaacccaa	7	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:59961870A>G	uc001xei.3	+	4	930	c.428A>G	c.(427-429)TAC>TGC	p.Y143C	JKAMP_uc001xef.3_Missense_Mutation_p.Y129C|JKAMP_uc001xeh.3_Missense_Mutation_p.Y123C|JKAMP_uc001xeg.3_Missense_Mutation_p.Y137C|JKAMP_uc010try.1_Missense_Mutation_p.Y66C|JKAMP_uc001xej.3_Missense_Mutation_p.Y66C	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	144	Lumenal (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						TCTGACTGGTACACGATGCTT	0.408													G	59961870	A	G	59961870	3	3	189	1	0	0	0	0	1	0	0	0	7949	391	14	3	400	3	JKAMP	14	59961870	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	31184	59961870	47387670	3499	101356											
RTN1	6252	broad.mit.edu	37	chr14	60212668	60212668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatgtatggagcaaatgtgGattcttccaataaatggtcc	9	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:60212668G>A	uc001xen.1	-	2	982	c.773C>T	c.(772-774)TCC>TTC	p.S258F		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	258					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGCAAATGTGGATTCTTCCAA	0.448													A	60212668	G	A	60212668	3	1	189	1	0	0	0	0	1	0	0	0	13725	1174	41	4	1654	4	RTN1	14	60212668	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	250798	60212668	47136872	3500	101357											
SIX4	51804	broad.mit.edu	37	chr14	61186582	61186582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattggggatctggacaatgCcatactggttaatttgcact	10	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:61186582C>A	uc001xfc.2	-	2	1445	c.1445G>T	c.(1444-1446)GGC>GTC	p.G482V	SIX4_uc010app.1_Missense_Mutation_p.G474V	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	482						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTGGACAATGCCATACTGGTT	0.502													A	61186582	C	A	61186582	3	1	189	1	0	0	0	0	1	0	0	0	14349	739	26	5	908	5	SIX4	14	61186582	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	973914	61186582	46162958	3501	101358											
SLC38A6	145389	broad.mit.edu	37	chr14	61509874	61509874	+	Frame_Shift_Del	DEL	A	A	-													tacttttttaggtaataattAaaaaatggtccatcccttgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:61509873_61509873TA>T	uc001xfh.2	+	8	797	c.633_633TA>T	c.(631-633)attfs	p.I211fs	SLC38A6_uc001xfg.2_Frame_Shift_Del_p.I211fs|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Frame_Shift_Del_p.I188fs	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	211					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AGGTAATAATTAAAAAATGGT	0.264													-	61509874	A	-	61509874	7	5	189	1	0	1	0	1	0	0	0	0	14608	363	13	0	668	0	SLC38A6	14	61509874	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	323292	61509874	45839666	3502	101359											
HIF1A	3091	broad.mit.edu	37	chr14	62188501	62188501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgattttactcatccatgTgaccatgaggaaatgagaga	9	6	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:62188501T>C	uc001xfq.2	+	4	821	c.417T>C	c.(415-417)TGT>TGC	p.C139C	HIF1A_uc010tsc.1_Silent_p.C56C|HIF1A_uc001xfr.2_Silent_p.C139C|HIF1A_uc001xfs.2_Silent_p.C140C	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	139	Interaction with TSGA10 (By similarity).|PAS 1.				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			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CTCATCCATGTGACCATGAGG	0.308													C	62188501	T	C	62188501	2	2	189	1	0	0	0	0	0	0	0	1	7103	1702	59	3		3	HIF1A	14	62188501	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	678627	62188501	45161039	3503	101360											
SYNE2	23224	broad.mit.edu	37	chr14	64591849	64591849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactatgtataactttagatAcccaacaactgaagaactga	6	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:64591849A>G	uc001xgm.2	+	71	13705	c.13475A>G	c.(13474-13476)TAC>TGC	p.Y4492C	SYNE2_uc001xgl.2_Missense_Mutation_p.Y4492C|SYNE2_uc010apy.2_Missense_Mutation_p.Y877C|SYNE2_uc010apz.1_Missense_Mutation_p.Y384C	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4492	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTTTAGATACCCAACAACT	0.423													G	64591849	A	G	64591849	3	3	189	1	0	0	0	0	1	0	0	0	15443	391	14	3	13753	3	SYNE2	14	64591849	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2403348	64591849	42757691	3504	101361											
ZBTB1	22890	broad.mit.edu	37	chr14	64988891	64988891	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgatagctgtggattTggctttagctgtgaaaaatt	11	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:64988891T>C	uc001xhh.3	+	4	1100	c.669T>C	c.(667-669)TTT>TTC	p.F223F	ZBTB1_uc010aqg.2_Silent_p.F223F|ZBTB1_uc001xhi.2_Silent_p.F223F	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	223	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		GCTGTGGATTTGGCTTTAGCT	0.358													C	64988891	T	C	64988891	2	2	189	1	0	0	0	0	0	0	0	1	17519	1809	63	3		3	ZBTB1	14	64988891	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	397042	64988891	42360649	3505	101362											
SPTB	6710	broad.mit.edu	37	chr14	65260381	65260381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacactggtcaggtctTtgccatagtccagggaagaa	12	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:65260381T>C	uc001xht.2	-	13	2054	c.2000A>G	c.(1999-2001)AAA>AGA	p.K667R	SPTB_uc001xhr.2_Missense_Mutation_p.K667R|SPTB_uc001xhs.2_Missense_Mutation_p.K667R|SPTB_uc001xhu.2_Missense_Mutation_p.K667R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	667	Spectrin 4.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		GGTCAGGTCTTTGCCATAGTC	0.537													C	65260381	T	C	65260381	3	2	189	1	0	0	0	0	1	0	0	0	15117	1841	64	3	5147	3	SPTB	14	65260381	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	271490	65260381	42089159	3506	101363											
RAB15	376267	broad.mit.edu	37	chr14	65418332	65418332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggcttacctgggcccgccGatagtactgctttgtgatgg	14	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:65418332G>A	uc001xhz.2	-	3	316	c.235C>T	c.(235-237)CGG>TGG	p.R79W	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	NM_198686	NP_941959	P59190	RAB15_HUMAN	RAB15, member RAS onocogene family	79					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)	1				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGGGCCCGCCGATAGTACTGC	0.582													A	65418332	G	A	65418332	3	1	189	1	0	0	0	0	1	0	0	0	12901	1057	37	1	411	1	RAB15	14	65418332	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	157951	65418332	41931208	3507	101364											
FUT8	2530	broad.mit.edu	37	chr14	66135985	66135985	+	Frame_Shift_Del	DEL	A	A	-													ccaaggactgcagcaaagccAaaaagctggtgtgtaatatc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:66135984_66135984CA>C	uc001xin.3	+	6	2348	c.621_621CA>C	c.(619-621)gccfs	p.A207fs	FUT8_uc001xio.3_Frame_Shift_Del_p.A207fs|FUT8_uc010tsp.2_Frame_Shift_Del_p.A44fs|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Frame_Shift_Del_p.A207fs|FUT8_uc001xiq.3_Frame_Shift_Del_p.A78fs|FUT8_uc021ruy.1_Frame_Shift_Del_p.A78fs	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	207					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCAGCAAAGCCAAAAAGCTGG	0.418													-	66135985	A	-	66135985	7	5	189	1	0	1	0	1	0	0	0	0	6110	131	5	0	739	0	FUT8	14	66135985	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	717653	66135985	41213555	3508	101365											
ZFYVE26	23503	broad.mit.edu	37	chr14	68250106	68250106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtagctgggccagagTacccagacgagtcaggaggg	18	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:68250106T>C	uc001xka.2	-	21	3902	c.3763A>G	c.(3763-3765)ACT>GCT	p.T1255A	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.T1255A	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1255					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGGCCAGAGTACCCAGACGA	0.582													C	68250106	T	C	68250106	3	2	189	1	0	0	0	0	1	0	0	0	17665	1638	57	3	3944	3	ZFYVE26	14	68250106	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2114121	68250106	39099434	3509	101366											
RAD51L1	5890	broad.mit.edu	37	chr14	68353896	68353896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcatcctccttgaagtAtttggctgaggagttttcaa	11	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:68353896A>G	uc001xkf.1	+	7	795	c.731A>G	c.(730-732)TAT>TGT	p.Y244C	RAD51L1_uc010aqq.2_Missense_Mutation_p.Y244C|RAD51L1_uc001xkd.2_Missense_Mutation_p.Y244C|RAD51L1_uc010aqr.2_Missense_Mutation_p.Y125C|RAD51L1_uc001xke.2_Missense_Mutation_p.Y244C|RAD51L1_uc010aqs.1_Missense_Mutation_p.Y244C|RAD51L1_uc001xkg.1_Missense_Mutation_p.Y244C	NM_133509	NP_598193	O15315	RA51B_HUMAN	RAD51-like 1 isoform 3	244					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0				UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421)		TCCTTGAAGTATTTGGCTGAG	0.313			T	HMGA2	lipoma|uterine leiomyoma			Direct_reversal_of_damage|Homologous_recombination					G	68353896	A	G	68353896	3	3	189	1	0	0	0	0	1	0	0	0	12989	449	16	3	753	3	RAD51L1	14	68353896	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	103790	68353896	38995644	3510	101367											
SIPA1L1	26037	broad.mit.edu	37	chr14	72056089	72056089	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatttttctaccagaagggTaagtagagatcctttatttc	7	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:72056089T>C	uc001xms.2	+	2	1846	c.1498_splice	c.e2+2	p.E500_splice	SIPA1L1_uc001xmt.2_Splice_Site_p.E500_splice|SIPA1L1_uc001xmu.2_Splice_Site_p.E500_splice|SIPA1L1_uc001xmv.2_Splice_Site_p.E500_splice	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like						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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCAGAAGGGTAAGTAGAGAT	0.328													C	72056089	T	C	72056089	5	2	189	1	0	0	0	0	0	0	1	0	14329	1652	57	3	1502	3	SIPA1L1	14	72056089	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3702193	72056089	35293451	3511	101368											
SIPA1L1	26037	broad.mit.edu	37	chr14	72172041	72172044	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													tccagtggttcatttgtctcCaaacaaacaagggcatgtaa					rs138870993		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:72172040_72172043CCAAA>C	uc001xms.3	+	13	4172_4175	c.3811_3814CCAAA>C	c.(3811-3816)ccaaacfs	p.P1271fs	SIPA1L1_uc001xmt.3_Frame_Shift_Del_p.P1250fs|SIPA1L1_uc001xmu.3_Frame_Shift_Del_p.P1250fs|SIPA1L1_uc001xmv.3_Frame_Shift_Del_p.P1271fs|SIPA1L1_uc010ttm.2_Frame_Shift_Del_p.P725fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1271					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)		TCATTTGTCTCCAAACAAACAAGG	0.451													-	72172044	CAAA	-	72172041	7	5	189	1	0	1	0	1	0	0	0	0	14329	594	21	0	3862	0	SIPA1L1	14	72172041	Frame_Shift_Del	DEL	CAAA	TCGA-CG-5721-01A-11D-1600-08	115952	72172041	35177499	3512	101369											
SIPA1L1	26037	broad.mit.edu	37	chr14	72202057	72202057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgagtgctgcatccaAcagtgatcagctggaggacc	11	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:72202057A>G	uc001xms.2	+	20	5483	c.5135A>G	c.(5134-5136)AAC>AGC	p.N1712S	SIPA1L1_uc001xmt.2_Missense_Mutation_p.N1691S|SIPA1L1_uc001xmu.2_Missense_Mutation_p.N1691S|SIPA1L1_uc001xmv.2_Missense_Mutation_p.N1712S|SIPA1L1_uc010ttm.1_Missense_Mutation_p.N1166S|SIPA1L1_uc001xmw.2_Missense_Mutation_p.N477S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1712					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCTGCATCCAACAGTGATCAG	0.507													G	72202057	A	G	72202057	3	3	189	1	0	0	0	0	1	0	0	0	14329	43	2	3	5209	3	SIPA1L1	14	72202057	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	30016	72202057	35147483	3513	101370											
RGS6	9628	broad.mit.edu	37	chr14	72985085	72985085	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgtccaagatcttaAgaaacaacccctacaggatg	9	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:72985085A>C	uc001xna.3	+	15	1641	c.1118A>C	c.(1117-1119)AAG>ACG	p.K373T	RGS6_uc010ttn.1_Missense_Mutation_p.K373T|RGS6_uc001xmx.3_Missense_Mutation_p.K373T|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.K373T|RGS6_uc010ttp.1_Missense_Mutation_p.K304T|RGS6_uc001xmz.1_Missense_Mutation_p.K234T	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	373	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		CAAGATCTTAAGAAACAACCC	0.542													C	72985085	A	C	72985085	3	2	189	1	0	0	0	0	1	0	0	0	13309	72	3	5	1172	5	RGS6	14	72985085	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	783028	72985085	34364455	3514	101371											
RGS6	9628	broad.mit.edu	37	chr14	73002943	73002943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctatgcccgcttcctccGgtcaaatgcttaccaggatt	8	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:73002943G>A	uc001xna.3	+	16	1851	c.1328G>A	c.(1327-1329)CGG>CAG	p.R443Q	RGS6_uc010ttn.1_Missense_Mutation_p.R443Q|RGS6_uc001xmx.3_Missense_Mutation_p.R443Q|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R443Q|RGS6_uc010ttp.1_Missense_Mutation_p.R374Q|RGS6_uc001xmz.1_Missense_Mutation_p.R304Q	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	443					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			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		CGCTTCCTCCGGTCAAATGCT	0.532													A	73002943	G	A	73002943	3	1	189	1	0	0	0	0	1	0	0	0	13309	1116	39	1	1386	1	RGS6	14	73002943	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	17858	73002943	34346597	3515	101372											
RBM25	58517	broad.mit.edu	37	chr14	73544179	73544179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaattgtggtcctactAccactgtttttgttggcaac	8	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:73544179A>G	uc001xno.2	+	4	467	c.259A>G	c.(259-261)ACC>GCC	p.T87A	RBM25_uc001xnn.3_Missense_Mutation_p.T87A|RBM25_uc010ttu.1_Missense_Mutation_p.T87A|RBM25_uc001xnp.2_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	87	RRM.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGGTCCTACTACCACTGTTTT	0.363													G	73544179	A	G	73544179	3	3	189	1	0	0	0	0	1	0	0	0	13125	391	14	3	269	3	RBM25	14	73544179	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	541236	73544179	33805361	3516	101373											
PAPLN	89932	broad.mit.edu	37	chr14	73729153	73729153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtgggccaatgtaacCgcttctggtatggcggctgc	13	12	2	0	rs150310890	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:73729153C>T	uc010ttx.1	+	18	2504	c.2341C>T	c.(2341-2343)CGC>TGC	p.R781C	PAPLN_uc001xnw.3_Missense_Mutation_p.R754C|PAPLN_uc010arl.2_Intron|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R765C|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'UTR	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	781	BPTI/Kunitz inhibitor.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCAATGTAACCGCTTCTGGTA	0.627													T	73729153	C	T	73729153	3	4	189	1	0	0	0	0	1	0	0	0	11428	652	23	1	2326	1	PAPLN	14	73729153	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	184974	73729153	33620387	3517	101374											
HEATR4	399671	broad.mit.edu	37	chr14	73967394	73967394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctatcaggtagagagCttccacacgctcctgggaat	9	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:73967394C>T	uc010tub.1	-	12	2468	c.2146G>A	c.(2146-2148)GCT>ACT	p.A716T	HEATR4_uc010tua.1_Missense_Mutation_p.A669T	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGGTAGAGAGCTTCCACACGC	0.517													T	73967394	C	T	73967394	3	4	189	1	0	0	0	0	1	0	0	0	7030	797	28	2	962	2	HEATR4	14	73967394	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	238241	73967394	33382146	3518	101375											
C14orf43	91748	broad.mit.edu	37	chr14	74206530	74206530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggagggggcagttccacaGgctgagaggtggagactgcc	18	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:74206530G>T	uc001xot.2	-	2	965	c.182C>A	c.(181-183)CCT>CAT	p.P61H	C14orf43_uc001xou.2_Missense_Mutation_p.P61H|C14orf43_uc010tud.1_Missense_Mutation_p.P61H|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		CAGTTCCACAGGCTGAGAGGT	0.657													T	74206530	G	T	74206530	3	4	189	1	0	0	0	0	1	0	0	0	1774	1000	35	5	2999	5	C14orf43	14	74206530	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	239136	74206530	33143010	3519	101376											
C14orf45	80127	broad.mit.edu	37	chr14	74522353	74522353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggaaaaagtattgcgAttgctctttgcaaaaatgaa	9	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:74522353A>G	uc010tup.1	+	9	1476	c.1353A>G	c.(1351-1353)CGA>CGG	p.R451R	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	451											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		AAGTATTGCGATTGCTCTTTG	0.363													G	74522353	A	G	74522353	2	3	189	1	0	0	0	0	0	0	0	1	1775	320	12	3		3	C14orf45	14	74522353	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	315823	74522353	32827187	3520	101377											
LIN52	91750	broad.mit.edu	37	chr14	74562660	74562660	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttagtaccaggtgTtgctgaatttgcagcttcct	8	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:74562660T>C	uc001xpp.2	+	3	126	c.116T>C	c.(115-117)GTT>GCT	p.V39A	LIN52_uc010asb.2_RNA	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN	lin-52 homolog	39										breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00471)		GTACCAGGTGTTGCTGAATTT	0.239													C	74562660	T	C	74562660	3	2	189	1	0	0	0	0	1	0	0	0	8808	1725	60	3	126	3	LIN52	14	74562660	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	40307	74562660	32786880	3521	101378											
ABCD4	5826	broad.mit.edu	37	chr14	74754962	74754962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttgccaccaagttggActgtaacagacccagagggc	11	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:74754962A>G	uc001xpr.2	-	16	1659	c.1507T>C	c.(1507-1509)TCC>CCC	p.S503P	ABCD4_uc001xps.2_Missense_Mutation_p.S344P|ABCD4_uc001xpt.2_Missense_Mutation_p.S344P|ABCD4_uc010tur.1_Missense_Mutation_p.S399P	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	503	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ACCAAGTTGGACTGTAACAGA	0.562													G	74754962	A	G	74754962	3	3	189	1	0	0	0	0	1	0	0	0	63	289	10	3	329	3	ABCD4	14	74754962	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	192302	74754962	32594578	3522	101379											
ABCD4	5826	broad.mit.edu	37	chr14	74757053	74757053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtcttgccagtgcccGtgttgcctgtgatgagcagg	16	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:74757053G>A	uc001xpr.2	-	12	1420	c.1268C>T	c.(1267-1269)ACG>ATG	p.T423M	ABCD4_uc001xps.2_Missense_Mutation_p.T264M|ABCD4_uc001xpt.2_Missense_Mutation_p.T264M|ABCD4_uc010tur.1_Missense_Mutation_p.T319M|ABCD4_uc001xpu.2_Missense_Mutation_p.T160M	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	423	ABC transporter.|ATP (Potential).					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCCAGTGCCCGTGTTGCCTGT	0.627											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74757053	G	A	74757053	3	1	189	1	0	0	0	0	1	0	0	0	63	1145	40	1	584	1	ABCD4	14	74757053	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2091	74757053	32592487	3523	101380											
ABCD4	5826	broad.mit.edu	37	chr14	74762622	74762622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggcccatcaaagttttGttcaccacggtccccaggat	10	12	2	0	rs149779191		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:74762622G>A	uc001xpr.2	-	6	755	c.603C>T	c.(601-603)AAC>AAT	p.N201N	ABCD4_uc001xps.2_Silent_p.N42N|ABCD4_uc001xpt.2_Silent_p.N42N|ABCD4_uc010tur.1_Silent_p.N114N|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	201	ABC transmembrane type-1.|Helical; (Potential).					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCAAAGTTTTGTTCACCACGG	0.547													A	74762622	G	A	74762622	2	1	189	1	0	0	0	0	0	0	0	1	63	1368	48	4		4	ABCD4	14	74762622	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5569	74762622	32586918	3524	101381											
YLPM1	56252	broad.mit.edu	37	chr14	75265004	75265004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaagataaaggcctgcctCggccagataatagagataat	9	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:75265004C>T	uc001xqj.3	+	5	3128	c.3004C>T	c.(3004-3006)CGG>TGG	p.R1002W	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	807	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGCCTGCCTCGGCCAGATAA	0.428													T	75265004	C	T	75265004	3	4	189	1	0	0	0	0	1	0	0	0	17483	875	31	1	3022	1	YLPM1	14	75265004	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	502382	75265004	32084536	3525	101382											
YLPM1	56252	broad.mit.edu	37	chr14	75276389	75276390	+	Frame_Shift_Ins	INS	-	-	C													atctgctccagtattaccacINSccccacctgttcactcttcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:75276388_75276389A>AC	uc001xqj.4	+	6	4951_4952	c.4827_4828A>AC	c.(4825-4830)ccacccfs	p.P1609fs	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Frame_Shift_Ins_p.P92fs	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1414					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)		CAGTATTACCACCCCCACCTGT	0.47													C	75276390	-	C	75276389	7	5	189	1	0	1	1	0	0	0	0	0	17483	507	18	0	4854	0	YLPM1	14	75276389	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	11385	75276389	32073151	3526	101383											
MLH3	27030	broad.mit.edu	37	chr14	75515935	75515935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttacagtagtcccagCgcttgctctagtcacatcag	8	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:75515935C>T	uc001xrd.1	-	2	640	c.424G>A	c.(424-426)GCT>ACT	p.A142T	MLH3_uc001xre.1_Missense_Mutation_p.A142T|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	142					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTAGTCCCAGCGCTTGCTCTA	0.423								MMR					T	75515935	C	T	75515935	3	4	189	1	0	0	0	0	1	0	0	0	9618	768	27	1	3985	1	MLH3	14	75515935	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	239546	75515935	31833605	3527	101384											
BATF	10538	broad.mit.edu	37	chr14	76012903	76012903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggtgctgaacagccaCgagcccctgtgctcggtgct	13	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:76012903C>T	uc001xrr.2	+	3	509	c.267C>T	c.(265-267)CAC>CAT	p.H89H		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	89						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		TGAACAGCCACGAGCCCCTGT	0.627													T	76012903	C	T	76012903	2	4	189	1	0	0	0	0	0	0	0	1	1325	535	19	1		1	BATF	14	76012903	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	496968	76012903	31336637	3528	101385											
FLVCR2	55640	broad.mit.edu	37	chr14	76088483	76088483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaacattgaagaccgggAcgagcttgcctaccacatca	8	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:76088483A>G	uc001xrs.2	+	2	1107	c.731A>G	c.(730-732)GAC>GGC	p.D244G	FLVCR2_uc010tvd.1_Missense_Mutation_p.D39G	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	244					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAAGACCGGGACGAGCTTGCC	0.458													G	76088483	A	G	76088483	3	3	189	1	0	0	0	0	1	0	0	0	5946	275	10	3	737	3	FLVCR2	14	76088483	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	75580	76088483	31261057	3529	101386											
TGFB3	7043	broad.mit.edu	37	chr14	76427332	76427332	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagttggcatagtaGcccttaggttcatggaccca	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:76427332G>T	uc001xsc.2	-	6	1870	c.1014C>A	c.(1012-1014)GGC>GGA	p.G338G		NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	338					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			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TGGCATAGTAGCCCTTAGGTT	0.552													T	76427332	G	T	76427332	2	4	189	1	0	0	0	0	0	0	0	1	15816	958	34	5		5	TGFB3	14	76427332	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	338849	76427332	30922208	3530	101387											
C14orf118	55668	broad.mit.edu	37	chr14	76668165	76668165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctacattttttaaaatgCcacaagaaaagagccctgga	7	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:76668165C>A	uc001xsh.2	+	10	1506	c.1420C>A	c.(1420-1422)CCA>ACA	p.P474T	C14orf118_uc001xsi.2_Missense_Mutation_p.P469T|C14orf118_uc001xsl.2_RNA|C14orf118_uc001xsn.1_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	474										ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		TTTTAAAATGCCACAAGAAAA	0.493													A	76668165	C	A	76668165	3	1	189	1	0	0	0	0	1	0	0	0	1741	739	26	5	1498	5	C14orf118	14	76668165	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	240833	76668165	30681375	3531	101388											
POMT2	29954	broad.mit.edu	37	chr14	77745125	77745125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagtggtggaagtagaggAcccggcccatcaggaaaaac	14	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:77745125A>G	uc001xti.2	-	19	2180	c.1979T>C	c.(1978-1980)GTC>GCC	p.V660A	POMT2_uc001xth.1_Missense_Mutation_p.V358A	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	660	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAAGTAGAGGACCCGGCCCAT	0.607													G	77745125	A	G	77745125	3	3	189	1	0	0	0	0	1	0	0	0	12246	275	10	3	285	3	POMT2	14	77745125	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1076960	77745125	29604415	3532	101389											
POMT2	29954	broad.mit.edu	37	chr14	77751306	77751306	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcacacttgggattgatAtggtcctccacattccagat	7	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:77751306A>G	uc001xti.2	-	14	1764	c.1563T>C	c.(1561-1563)CAT>CAC	p.H521H	POMT2_uc001xth.1_Silent_p.H219H	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	521	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGGGATTGATATGGTCCTCCA	0.463													G	77751306	A	G	77751306	2	3	189	1	0	0	0	0	0	0	0	1	12246	446	16	3		3	POMT2	14	77751306	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6181	77751306	29598234	3533	101390											
VIPAR	63894	broad.mit.edu	37	chr14	77900221	77900221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatctacatcattccaggcTcgaagcttggcacgagcagc	10	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:77900221T>C	uc001xtt.1	-	17	1481	c.1143A>G	c.(1141-1143)CGA>CGG	p.R381R	VIPAR_uc001xtu.1_Silent_p.R381R|VIPAR_uc010tvj.1_Silent_p.R332R|VIPAR_uc001xtv.1_Silent_p.R381R	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	381					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						CATTCCAGGCTCGAAGCTTGG	0.498													C	77900221	T	C	77900221	2	2	189	1	0	0	0	0	0	0	0	1	17165	1538	54	3		3	VIPAR	14	77900221	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	148915	77900221	29449319	3534	101391											
ISM2	145501	broad.mit.edu	37	chr14	77951099	77951099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccagccgcaacggagtaAcctctggggtcctgggaggg	16	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:77951099A>G	uc001xtz.2	-	2	379	c.305T>C	c.(304-306)GTT>GCT	p.V102A	ISM2_uc001xua.2_Missense_Mutation_p.V102A|ISM2_uc001xty.2_Missense_Mutation_p.V14A|ISM2_uc010tvl.1_Missense_Mutation_p.V102A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	102						extracellular region				skin(1)	1						CAACGGAGTAACCTCTGGGGT	0.612													G	77951099	A	G	77951099	3	3	189	1	0	0	0	0	1	0	0	0	7861	43	2	3	1434	3	ISM2	14	77951099	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	50878	77951099	29398441	3535	101392											
NRXN3	9369	broad.mit.edu	37	chr14	79432495	79432495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagcctcatgtttaaTggccttctctacattgactt	7	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:79432495T>C	uc001xun.2	+	9	1895	c.1404T>C	c.(1402-1404)AAT>AAC	p.N468N	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.N593N	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	841	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCATGTTTAATGGCCTTCTCT	0.463													C	79432495	T	C	79432495	2	2	189	1	0	0	0	0	0	0	0	1	10667	1461	51	3		3	NRXN3	14	79432495	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1481396	79432495	27917045	3536	101393											
NRXN3	9369	broad.mit.edu	37	chr14	79432705	79432705	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggcttcattctcttcaaTagtggtgatggcaatgactt	10	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:79432705T>C	uc001xun.2	+	9	2105	c.1614T>C	c.(1612-1614)AAT>AAC	p.N538N	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.N663N	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	911	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTCTCTTCAATAGTGGTGATG	0.478													C	79432705	T	C	79432705	2	2	189	1	0	0	0	0	0	0	0	1	10667	1403	49	3		3	NRXN3	14	79432705	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	210	79432705	27916835	3537	101394											
NRXN3	9369	broad.mit.edu	37	chr14	80328021	80328021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcaaaccccacggagcCgggaatcagacgggttccgg	13	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:80328021C>T	uc001xun.2	+	17	3391	c.2900C>T	c.(2899-2901)CCG>CTG	p.P967L	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.P543L|NRXN3_uc010asw.2_Missense_Mutation_p.P365L|NRXN3_uc001xur.3_Missense_Mutation_p.P338L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1549	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCACGGAGCCGGGAATCAGA	0.602													T	80328021	C	T	80328021	3	4	189	1	0	0	0	0	1	0	0	0	10667	652	23	1	3312	1	NRXN3	14	80328021	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	895316	80328021	27021519	3538	101395											
C14orf145	145508	broad.mit.edu	37	chr14	81259277	81259277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgactgctggagctcacTgaggtaccgctcagcctgct	11	14	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:81259277T>C	uc001xux.2	-	13	1558	c.1387A>G	c.(1387-1389)AGT>GGT	p.S463G	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	463	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TGGAGCTCACTGAGGTACCGC	0.537													C	81259277	T	C	81259277	3	2	189	1	0	0	0	0	1	0	0	0	1749	1580	55	3	1945	3	C14orf145	14	81259277	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	931256	81259277	26090263	3539	101396											
PTPN21	11099	broad.mit.edu	37	chr14	88946106	88946106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacacctgcgtccgcatgaTgttgggagacgggtagtcct	14	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:88946106T>C	uc001xwv.3	-	13	2000	c.1669A>G	c.(1669-1671)ATC>GTC	p.I557V	PTPN21_uc010twc.1_Missense_Mutation_p.I353V	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	557						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GTCCGCATGATGTTGGGAGAC	0.701													C	88946106	T	C	88946106	3	2	189	1	0	0	0	0	1	0	0	0	12786	1464	51	3	1883	3	PTPN21	14	88946106	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7686829	88946106	18403434	3540	101397											
EML5	161436	broad.mit.edu	37	chr14	89091363	89091363	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatctcgcagggtggtgtAcatggcaaacacaggcccgt	12	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:89091363A>G	uc001xxg.2	-	36	5035	c.4849T>C	c.(4849-4851)TAC>CAC	p.Y1617H	EML5_uc001xxf.2_Missense_Mutation_p.Y404H|EML5_uc001xxh.1_Missense_Mutation_p.Y748H	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1609	WD 24.					cytoplasm|microtubule				ovary(3)	3						AGGGTGGTGTACATGGCAAAC	0.478													G	89091363	A	G	89091363	3	3	189	1	0	0	0	0	1	0	0	0	5100	391	14	3	1120	3	EML5	14	89091363	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	145257	89091363	18258177	3541	101398											
FBLN5	10516	broad.mit.edu	37	chr14	92403440	92403440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggttcgagtagggccctCgatacacagggtttgtccgg	16	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:92403440C>T	uc001xzx.3	-	4	703	c.230G>A	c.(229-231)CGA>CAA	p.R77Q	FBLN5_uc010aud.2_Missense_Mutation_p.R82Q|FBLN5_uc010aue.2_Missense_Mutation_p.R118Q	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	77	EGF-like 1; 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			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				gtagggCCCTCGATACACAGG	0.473													T	92403440	C	T	92403440	3	4	189	1	0	0	0	0	1	0	0	0	5700	884	31	1	1148	1	FBLN5	14	92403440	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3312077	92403440	14946100	3542	101399											
TRIP11	9321	broad.mit.edu	37	chr14	92436177	92436177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taataagaggtacagctgccGagcgaggagccaaaaacgga	13	8	0	1	rs146953990	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:92436177G>A	uc001xzy.2	-	21	6568	c.5780C>T	c.(5779-5781)TCG>TTG	p.S1927L	TRIP11_uc010auf.1_Missense_Mutation_p.S1663L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1927					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TACAGCTGCCGAGCGAGGAGC	0.453			T	PDGFRB	AML								A	92436177	G	A	92436177	3	1	189	1	0	0	0	0	1	0	0	0	16552	1059	37	1	163	1	TRIP11	14	92436177	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	32737	92436177	14913363	3543	101400											
ATXN3	4287	broad.mit.edu	37	chr14	92560124	92560124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctgatactctggacTgttgaacaggattagttcta	10	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:92560124T>C	uc001yac.3	-	4	355	c.286A>G	c.(286-288)AGT>GGT	p.S96G	ATXN3_uc010aug.2_Missense_Mutation_p.S81G|ATXN3_uc001yad.3_Missense_Mutation_p.S41G|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	96	Josephin.				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				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TACTCTGGACTGTTGAACAGG	0.338													C	92560124	T	C	92560124	3	2	189	1	0	0	0	0	1	0	0	0	1213	1580	55	3	831	3	ATXN3	14	92560124	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	123947	92560124	14789416	3544	101401											
SLC24A4	123041	broad.mit.edu	37	chr14	92909143	92909143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcataattggagtgtgcGgactgtttgctggccaggtc	15	7	0	0	rs140536494		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:92909143G>A	uc001yak.2	+	6	538	c.514G>A	c.(514-516)GGA>AGA	p.G172R	SLC24A4_uc001yai.2_Missense_Mutation_p.G125R|SLC24A4_uc010twm.1_Missense_Mutation_p.G189R|SLC24A4_uc001yaj.2_Missense_Mutation_p.G172R|SLC24A4_uc010auj.2_Missense_Mutation_p.G80R|SLC24A4_uc010twn.1_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	189	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		TGGAGTGTGCGGACTGTTTGC	0.582													A	92909143	G	A	92909143	3	1	189	1	0	0	0	0	1	0	0	0	14468	1117	39	1	536	1	SLC24A4	14	92909143	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	349019	92909143	14440397	3545	101402											
GOLGA5	9950	broad.mit.edu	37	chr14	93282672	93282672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcactgccagtagcaTggagctggaagaacttcggc	13	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:93282672T>C	uc001yaz.1	+	7	1579	c.1397T>C	c.(1396-1398)ATG>ACG	p.M466T		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	466	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCCAGTAGCATGGAGCTGGAA	0.418			T	RET	papillary thyroid								C	93282672	T	C	93282672	3	2	189	1	0	0	0	0	1	0	0	0	6556	1464	51	3	1419	3	GOLGA5	14	93282672	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	373529	93282672	14066868	3546	101403											
CHGA	1113	broad.mit.edu	37	chr14	93398722	93398722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgctccaggtcggtcGgaggctctggctgtggatgg	16	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:93398722G>A	uc001ybc.3	+	7	1076	c.816G>A	c.(814-816)TCG>TCA	p.S272S	CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Silent_p.S121S	NM_001275	NP_001266	P10645	CMGA_HUMAN	chromogranin A precursor	272					regulation of blood pressure	extracellular region|stored secretory granule				skin(2)	2		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGGTCGGTCGGAGGCTCTGG	0.652													A	93398722	G	A	93398722	2	1	189	1	0	0	0	0	0	0	0	1	3338	1103	39	1		1	CHGA	14	93398722	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	116050	93398722	13950818	3547	101404											
MOAP1	64112	broad.mit.edu	37	chr14	93650412	93650412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctactttcctgttctcaTccctcctgaacatccttcca	4	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:93650412T>C	uc001ybj.2	-	3	546	c.176A>G	c.(175-177)GAT>GGT	p.D59G	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	59					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		cctgttctcatccctcctgaa	0													C	93650412	T	C	93650412	3	2	189	1	0	0	0	0	1	0	0	0	9680	1435	50	3	883	3	MOAP1	14	93650412	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	251690	93650412	13699128	3548	101405											
KIAA1409	57578	broad.mit.edu	37	chr14	94088327	94088327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcataccagaggttaggtTaaactgtatggagactttcg	11	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:94088327T>C	uc001ybv.1	+	28	4366	c.4283T>C	c.(4282-4284)TTA>TCA	p.L1428S	KIAA1409_uc001ybs.1_Missense_Mutation_p.L1406S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1583						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAGGTTAGGTTAAACTGTATG	0.478													C	94088327	T	C	94088327	3	2	189	1	0	0	0	0	1	0	0	0	8230	1764	61	3	4323	3	KIAA1409	14	94088327	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	437915	94088327	13261213	3549	101406											
FAM181A	90050	broad.mit.edu	37	chr14	94395058	94395058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttccttctgggaagagCcaaggcccacccacagctac	9	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:94395058C>T	uc001ybz.1	+	3	920	c.613C>T	c.(613-615)CCA>TCA	p.P205S	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.P143S|FAM181A_uc001yca.1_Missense_Mutation_p.P143S	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	205											0						CTGGGAAGAGCCAAGGCCCAC	0.622													T	94395058	C	T	94395058	3	4	189	1	0	0	0	0	1	0	0	0	5508	739	26	2	619	2	FAM181A	14	94395058	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	306731	94395058	12954482	3550	101407											
DDX24	57062	broad.mit.edu	37	chr14	94545855	94545855	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctgaaacagcttgTgcctttctcttgggtgcttc	8	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:94545855T>C	uc001ycj.2	-	2	333	c.234A>G	c.(232-234)GCA>GCG	p.A78A	DDX24_uc010twq.1_Silent_p.A35A|DDX24_uc010twr.1_Intron|IFI27L1_uc001ycl.2_5'Flank|IFI27L1_uc001yck.2_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	78					RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AAACAGCTTGTGCCTTTCTCT	0.443													C	94545855	T	C	94545855	2	2	189	1	0	0	0	0	0	0	0	1	4351	1683	59	3		3	DDX24	14	94545855	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	150797	94545855	12803685	3551	101408											
SERPINA1	5265	broad.mit.edu	37	chr14	94849556	94849557	+	Frame_Shift_Ins	INS	-	-	A													gccagcaggaggatgccccaINScgagacagaagacggcattg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:94849555_94849556C>CA	uc001ycy.4	-	3	573_574	c.19_20G>TG	c.(19-21)tggfs	p.W7fs	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Ins_p.W7fs|SERPINA1_uc010auy.3_Frame_Shift_Ins_p.W7fs|SERPINA1_uc001ycz.4_Frame_Shift_Ins_p.W7fs|SERPINA1_uc010auz.3_Frame_Shift_Ins_p.W7fs|SERPINA1_uc010ava.3_Frame_Shift_Ins_p.W7fs|SERPINA1_uc001ydb.4_Frame_Shift_Ins_p.W7fs|SERPINA1_uc010avb.3_Frame_Shift_Ins_p.W7fs|SERPINA1_uc001ydc.4_Frame_Shift_Ins_p.W7fs|SERPINA1_uc010auw.3_Frame_Shift_Ins_p.W7fs|SERPINA1_uc010aux.3_Frame_Shift_Ins_p.W7fs|SERPINA1_uc001yda.1_Frame_Shift_Ins_p.W7fs	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	7					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)	GAGGATGCCCCACGAGACAGAA	0.609													A	94849557	-	A	94849556	7	5	189	1	0	1	1	0	0	0	0	0	14086	159	6	0	1253	0	SERPINA1	14	94849556	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	303701	94849556	12499984	3552	101409											
SERPINA12	145264	broad.mit.edu	37	chr14	94964479	94964479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgggcacccaggcacaGcatggagaaagctgtagaga	14	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:94964479G>A	uc001ydj.2	-	3	1052	c.256C>T	c.(256-258)CTG>TTG	p.L86L		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	86					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		CCCAGGCACAGCATGGAGAAA	0.502													A	94964479	G	A	94964479	2	1	189	1	0	0	0	0	0	0	0	1	14089	962	34	2		2	SERPINA12	14	94964479	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	114923	94964479	12385061	3553	101410											
SERPINA12	145264	broad.mit.edu	37	chr14	94964535	94964535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgttcctgccagggTtgtaaaaggccagcttcttg	13	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:94964535T>C	uc001ydj.2	-	3	996	c.200A>G	c.(199-201)AAC>AGC	p.N67S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	67					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		CCTGCCAGGGTTGTAAAAGGC	0.542													C	94964535	T	C	94964535	3	2	189	1	0	0	0	0	1	0	0	0	14089	1725	60	3	1060	3	SERPINA12	14	94964535	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	56	94964535	12385005	3554	101411											
BDKRB2	624	broad.mit.edu	37	chr14	96707338	96707338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgggaagtgttcaccAacatgctcctgaatgtcgtg	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:96707338A>G	uc010avm.1	+	3	869	c.673A>G	c.(673-675)AAC>GAC	p.N225D	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.N198D|BDKRB2_uc001yfg.2_Missense_Mutation_p.N225D	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	225	Helical; Name=5; (Potential).				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			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGTGTTCACCAACATGCTCCT	0.552													G	96707338	A	G	96707338	3	3	189	1	0	0	0	0	1	0	0	0	1393	130	5	3	679	3	BDKRB2	14	96707338	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1742803	96707338	10642202	3555	101412											
ATG2B	55102	broad.mit.edu	37	chr14	96752298	96752298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgagccgcagtttcataaaTggtctgagccgtgtctgtga	12	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:96752298T>C	uc001yfi.2	-	42	6396	c.6031A>G	c.(6031-6033)ATT>GTT	p.I2011V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	2011										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTTTCATAAATGGTCTGAGCC	0.562													C	96752298	T	C	96752298	3	2	189	1	0	0	0	0	1	0	0	0	1094	1464	51	3	209	3	ATG2B	14	96752298	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	44960	96752298	10597242	3556	101413											
ATG2B	55102	broad.mit.edu	37	chr14	96811655	96811655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgttagtttctggctaagAcattcttttgccaattgcat	7	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:96811655A>G	uc001yfi.2	-	3	758	c.393T>C	c.(391-393)TGT>TGC	p.C131C		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	131										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTGGCTAAGACATTCTTTTG	0.368													G	96811655	A	G	96811655	2	3	189	1	0	0	0	0	0	0	0	1	1094	273	10	3		3	ATG2B	14	96811655	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	59357	96811655	10537885	3557	101414											
EML1	2009	broad.mit.edu	37	chr14	100377888	100377888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcatttcttggagcggaaActatcaaaaacttcgtaaaa	7	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:100377888A>G	uc001ygs.2	+	13	1538	c.1469A>G	c.(1468-1470)AAC>AGC	p.N490S	EML1_uc010tww.1_Missense_Mutation_p.N478S|EML1_uc001ygq.2_Missense_Mutation_p.N509S|EML1_uc001ygr.2_Missense_Mutation_p.N509S	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	490	WD 5.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGAGCGGAAACTATCAAAAA	0.403													G	100377888	A	G	100377888	3	3	189	1	0	0	0	0	1	0	0	0	5096	43	2	3	1580	3	EML1	14	100377888	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3566233	100377888	6971652	3558	101415											
WDR25	79446	broad.mit.edu	37	chr14	100995488	100995488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggcaactacctggccctTttctccactgtgtggcccta	8	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:100995488T>C	uc010avx.2	+	6	1449	c.1356T>C	c.(1354-1356)CTT>CTC	p.L452L	WDR25_uc001yhm.2_Silent_p.L444L|WDR25_uc001yhn.2_Silent_p.L452L|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Silent_p.L195L	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	452	WD 5.										0		Melanoma(154;0.212)				ACCTGGCCCTTTTCTCCACTG	0.622													C	100995488	T	C	100995488	2	2	189	1	0	0	0	0	0	0	0	1	17279	1828	64	3		3	WDR25	14	100995488	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	617600	100995488	6354052	3559	101416											
DIO3	1735	broad.mit.edu	37	chr14	102028188	102028188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgctcaaggcggtgtggCatggccagaagttggatttc	15	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:102028188C>T	uc010txq.1	+	1	501	c.277C>T	c.(277-279)CAT>TAT	p.H93Y	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	93	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				GGCGGTGTGGCATGGCCAGAA	0.652													T	102028188	C	T	102028188	3	4	189	1	0	0	0	0	1	0	0	0	4526	710	25	2	357	2	DIO3	14	102028188	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1032700	102028188	5321352	3560	101417											
DYNC1H1	1778	broad.mit.edu	37	chr14	102442075	102442075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggtgatgaaggagaagaaGaaaaagaattcatttcctat	10	4	1	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:102442075G>A	uc001yks.2	+	2	447	c.283G>A	c.(283-285)GAA>AAA	p.E95K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	95	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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGGAGAAGAAGAAAAAGAATT	0.289													A	102442075	G	A	102442075	3	1	189	1	0	0	0	0	1	0	0	0	4841	943	33	4	289	4	DYNC1H1	14	102442075	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	413887	102442075	4907465	3561	101418											
DYNC1H1	1778	broad.mit.edu	37	chr14	102494083	102494083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggttcactagccaggttaTccgcaacctccacgtcgtgt	10	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:102494083T>C	uc001yks.2	+	47	9340	c.9176T>C	c.(9175-9177)ATC>ACC	p.I3059T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3059	AAA 4 (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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGCCAGGTTATCCGCAACCTC	0.567													C	102494083	T	C	102494083	3	2	189	1	0	0	0	0	1	0	0	0	4841	1435	50	3	9362	3	DYNC1H1	14	102494083	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	52008	102494083	4855457	3562	101419											
WDR20	91833	broad.mit.edu	37	chr14	102675555	102675555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgagcaaatagtacacagTccaggctctccaaacggaac	8	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:102675555T>C	uc001ykz.2	+	3	1097	c.1048T>C	c.(1048-1050)TCC>CCC	p.S350P	WDR20_uc001yky.1_Missense_Mutation_p.S93P|WDR20_uc001yla.2_Missense_Mutation_p.S226P|WDR20_uc001ylb.2_Missense_Mutation_p.S289P|WDR20_uc010txu.1_Missense_Mutation_p.S381P|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.S350P|WDR20_uc001yle.2_Missense_Mutation_p.S289P|WDR20_uc001ylf.2_Missense_Mutation_p.S362P	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	350	WD 4.										0						TAGTACACAGTCCAGGCTCTC	0.512											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	102675555	T	C	102675555	3	2	189	1	0	0	0	0	1	0	0	0	17277	1667	58	3	1075	3	WDR20	14	102675555	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	181472	102675555	4673985	3563	101420											
RAGE	5891	broad.mit.edu	37	chr14	102695953	102695953	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatgacataggccggtccTcgtctcttgggacggtcctc	11	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:102695953T>C	uc001ylm.2	-	11	1249	c.1023A>G	c.(1021-1023)CGA>CGG	p.R341R	RAGE_uc010txv.1_Silent_p.R311R|RAGE_uc001yln.2_Silent_p.R159R|RAGE_uc001ylh.2_Intron|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	341					signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						AGGCCGGTCCTCGTCTCTTGG	0.512													C	102695953	T	C	102695953	2	2	189	1	0	0	0	0	0	0	0	1	13006	1538	54	3		3	RAGE	14	102695953	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	20398	102695953	4653587	3564	101421											
RCOR1	23186	broad.mit.edu	37	chr14	103187412	103187412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaatagaaccatatcgActtccagaggtaggattatg	12	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:103187412A>G	uc001ymb.2	+	9	1113	c.1113A>G	c.(1111-1113)CGA>CGG	p.R371R		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	371	Interaction with KDM1A.				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			ovary(1)	1						AACCATATCGACTTCCAGAGG	0.303													G	103187412	A	G	103187412	2	3	189	1	0	0	0	0	0	0	0	1	13182	262	10	3		3	RCOR1	14	103187412	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	491459	103187412	4162128	3565	101422											
CDC42BPB	9578	broad.mit.edu	37	chr14	103404718	103404718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggtgggagcggggcccgGcctttcctcctgggaggggg	21	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:103404718G>A	uc001ymi.1	-	35	5090	c.4858C>T	c.(4858-4860)CCG>TCG	p.P1620S		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1620					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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCGGGGCCCGGCCTTTCCTCC	0.647													A	103404718	G	A	103404718	3	1	189	1	0	0	0	0	1	0	0	0	3073	1203	42	2	289	2	CDC42BPB	14	103404718	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	217306	103404718	3944822	3566	101423											
CDC42BPB	9578	broad.mit.edu	37	chr14	103416191	103416191	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagcttgcagtcacagacGactgcatatgcgcgctgcca	11	12	1	2	rs148759838	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:103416191G>A	uc001ymi.1	-	26	3592	c.3360C>T	c.(3358-3360)GTC>GTT	p.V1120V	CDC42BPB_uc001ymj.1_Silent_p.V222V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1120	PH.				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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGTCACAGACGACTGCATATG	0.552													A	103416191	G	A	103416191	2	1	189	1	0	0	0	0	0	0	0	1	3073	1045	37	1		1	CDC42BPB	14	103416191	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	11473	103416191	3933349	3567	101424											
C14orf73	91828	broad.mit.edu	37	chr14	103566731	103566731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaggcaggccttctccCgggccagccagcgggctttg	14	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:103566731C>T	uc001ymk.2	+	1	251	c.175C>T	c.(175-177)CGG>TGG	p.R59W		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	59											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GGCCTTCTCCCGGGCCAGCCA	0.657													T	103566731	C	T	103566731	3	4	189	1	0	0	0	0	1	0	0	0	1779	643	23	1	177	1	C14orf73	14	103566731	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	150540	103566731	3782809	3568	101425											
C14orf73	91828	broad.mit.edu	37	chr14	103574751	103574751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggttccgaggccacatggTtggaccaagccatccagtgc	13	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:103574751T>C	uc001ymk.2	+	10	1949	c.1873T>C	c.(1873-1875)TTG>CTG	p.L625L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	625											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GGCCACATGGTTGGACCAAGC	0.627													C	103574751	T	C	103574751	2	2	189	1	0	0	0	0	0	0	0	1	1779	1722	60	3		3	C14orf73	14	103574751	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	8020	103574751	3774789	3569	101426											
ZFYVE21	79038	broad.mit.edu	37	chr14	104194125	104194125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttctgcgacaggtgcTgcagccagaaggtgccgctg	15	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:104194125T>C	uc001yoc.2	+	3	266	c.232T>C	c.(232-234)TGC>CGC	p.C78R	ZFYVE21_uc001yod.2_Missense_Mutation_p.C78R	NM_024071	NP_076976	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	78	FYVE-type.					cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding				0		Melanoma(154;0.226)		Epithelial(152;0.245)		CGACAGGTGCTGCAGCCAGAA	0.677													C	104194125	T	C	104194125	3	2	189	1	0	0	0	0	1	0	0	0	17664	1580	55	3	242	3	ZFYVE21	14	104194125	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	619374	104194125	3155415	3570	101427											
PPP1R13B	23368	broad.mit.edu	37	chr14	104206432	104206432	+	Frame_Shift_Del	DEL	G	G	-													gtggggctgtgggctgggcaGgggggagctcttccaggttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:104206431_104206431AG>A	uc001yof.1	-	11	2605	c.2322_2322CT>T	c.(2320-2322)cctfs	p.P774fs	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Frame_Shift_Del_p.P641fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	774	Pro-rich.				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)				TGGGCTGGGCAGGGGGGAGCT	0.597													-	104206432	G	-	104206432	7	5	189	1	0	1	0	1	0	0	0	0	12357	1000	35	0	975	0	PPP1R13B	14	104206432	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	12307	104206432	3143108	3571	101428											
TDRD9	122402	broad.mit.edu	37	chr14	104457499	104457499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcacatttttaacaggaAcaaggcttggtcgggggccc	11	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:104457499A>G	uc001yom.3	+	9	1148	c.1118A>G	c.(1117-1119)AAC>AGC	p.N373S	TDRD9_uc001yon.3_Missense_Mutation_p.N111S	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	373					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTAACAGGAACAAGGCTTGG	0.323													G	104457499	A	G	104457499	3	3	189	1	0	0	0	0	1	0	0	0	15733	43	2	3	1152	3	TDRD9	14	104457499	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	251067	104457499	2892041	3572	101429											
INF2	64423	broad.mit.edu	37	chr14	105169688	105169688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaacgagctctccggcagCgacaacgtgccctacgtggt	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105169688C>T	uc001ypb.2	+	4	707	c.564C>T	c.(562-564)AGC>AGT	p.S188S	INF2_uc010tyi.1_Silent_p.S188S|INF2_uc001ypc.2_Silent_p.S188S|INF2_uc001yoy.3_Silent_p.S188S|INF2_uc001ypa.2_Silent_p.S188S	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	188	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		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)		TCTCCGGCAGCGACAACGTGC	0.657													T	105169688	C	T	105169688	2	4	189	1	0	0	0	0	0	0	0	1	7734	767	27	1		1	INF2	14	105169688	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	712189	105169688	2179852	3573	101430											
AKT1	207	broad.mit.edu	37	chr14	105241992	105241992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggacaggcctcaccacGcggtgcttgggcttggccag	17	12	1	0	rs17846825	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105241992G>A	uc001ypk.2	-	5	986	c.432C>T	c.(430-432)CGC>CGT	p.R144R	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.R144R|AKT1_uc010axa.2_Silent_p.R144R|AKT1_uc001ypm.2_Silent_p.R144R|AKT1_uc001ypn.2_Silent_p.R144R|AKT1_uc010tyk.1_Silent_p.R82R	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	144					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			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		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)	GCCTCACCACGCGGTGCTTGG	0.652		1	Mis		breast|colorectal|ovarian|NSCLC								A	105241992	G	A	105241992	2	1	189	1	0	0	0	0	0	0	0	1	478	1074	38	1		1	AKT1	14	105241992	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	72304	105241992	2107548	3574	101431											
KIAA0284	283638	broad.mit.edu	37	chr14	105360905	105360905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgaaggaactgaggcGggtgcagaaacagctggaag	15	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105360905G>A	uc010axb.2	+	18	4621	c.4397G>A	c.(4396-4398)CGG>CAG	p.R1466Q	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R1396Q|KIAA0284_uc001yps.2_Missense_Mutation_p.R1407Q|KIAA0284_uc001ypt.2_Missense_Mutation_p.R134Q	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1501						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GAACTGAGGCGGGTGCAGAAA	0.632													A	105360905	G	A	105360905	3	1	189	1	0	0	0	0	1	0	0	0	8166	1116	39	1	4463	1	KIAA0284	14	105360905	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	118913	105360905	1988635	3575	101432											
AHNAK2	113146	broad.mit.edu	37	chr14	105408451	105408451	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccagggacaggtcccccTccagccgcgtactgtccagc	11	18	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105408451T>A	uc010axc.1	-	7	13457	c.13337A>T	c.(13336-13338)GAG>GTG	p.E4446V	AHNAK2_uc001ypx.2_Missense_Mutation_p.E4346V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4446						nucleus				ovary(1)	1		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)			CAGGTCCCCCTCCAGCCGCGT	0.597													A	105408451	T	A	105408451	3	1	189	1	0	0	0	0	1	0	0	0	415	1551	54	5	4054	5	AHNAK2	14	105408451	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	47546	105408451	1941089	3576	101433											
AHNAK2	113146	broad.mit.edu	37	chr14	105409290	105409290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggaggggaggctcacGtcggctttcgccttcagctc	14	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105409290G>A	uc010axc.1	-	7	12618	c.12498C>T	c.(12496-12498)GAC>GAT	p.D4166D	AHNAK2_uc001ypx.2_Silent_p.D4066D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4166						nucleus				ovary(1)	1		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)			GGAGGCTCACGTCGGCTTTCG	0.607													A	105409290	G	A	105409290	2	1	189	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409290	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	839	105409290	1940250	3577	101434											
AHNAK2	113146	broad.mit.edu	37	chr14	105409652	105409652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgccctttgaggcTggctccctcgggcacggggc	18	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105409652T>C	uc010axc.1	-	7	12256	c.12136A>G	c.(12136-12138)AGC>GGC	p.S4046G	AHNAK2_uc001ypx.2_Missense_Mutation_p.S3946G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4046						nucleus				ovary(1)	1		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)			CCTTTGAGGCTGGCTCCCTCG	0.632													C	105409652	T	C	105409652	3	2	189	1	0	0	0	0	1	0	0	0	415	1580	55	3	5255	3	AHNAK2	14	105409652	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	362	105409652	1939888	3578	101435											
AHNAK2	113146	broad.mit.edu	37	chr14	105412200	105412200	+	Frame_Shift_Del	DEL	G	G	-													tggacctccagttgggcagaGgggggctcaatgctgatgtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105412199_105412199AG>A	uc010axc.1	-	6	9709	c.9589_9589CT>T	c.(9589-9591)tctfs	p.S3197fs	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.S3097fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3197						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)			AGTTGGGCAGAGGGGGGCTCA	0.632													-	105412200	G	-	105412200	7	5	189	1	0	1	0	1	0	0	0	0	415	987	35	0	7803	0	AHNAK2	14	105412200	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	2548	105412200	1937340	3579	101436											
AHNAK2	113146	broad.mit.edu	37	chr14	105413478	105413478	+	Frame_Shift_Del	DEL	G	G	-													gacagagacatcttcacatcGggggctgtcacttccgcctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105413477_105413477CG>C	uc010axc.1	-	6	8431	c.8311_8311CG>G	c.(8311-8313)gatfs	p.D2771fs	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.D2671fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2771						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)			ATCTTCACATCGGGGGCTGTC	0.612													-	105413478	G	-	105413478	7	5	189	1	0	1	0	1	0	0	0	0	415	1103	39	0	9081	0	AHNAK2	14	105413478	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1278	105413478	1936062	3580	101437											
AHNAK2	113146	broad.mit.edu	37	chr14	105414035	105414035	+	Frame_Shift_Del	DEL	G	G	-													ggggcccttgacatctagctGggggcccttgaggtccattt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105414034_105414034TG>T	uc010axc.1	-	6	7874	c.7754_7754CA>A	c.(7753-7755)cagfs	p.Q2585fs	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.Q2485fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2585						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)			GACATCTAGCTGGGGGCCCTT	0.627													-	105414035	G	-	105414035	7	5	189	1	0	1	0	1	0	0	0	0	415	1357	47	0	9638	0	AHNAK2	14	105414035	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	557	105414035	1935505	3581	101438											
PACS2	23241	broad.mit.edu	37	chr14	105843171	105843171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaggacctggacctcctgTatgacaccctggacatggag	13	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105843171T>C	uc001yqt.2	+	9	1043	c.868T>C	c.(868-870)TAT>CAT	p.Y290H	PACS2_uc001yqs.2_Missense_Mutation_p.Y215H|PACS2_uc001yqv.2_Missense_Mutation_p.Y290H|PACS2_uc001yqu.2_Missense_Mutation_p.Y290H	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	290					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		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)		GGACCTCCTGTATGACACCCT	0.672													C	105843171	T	C	105843171	3	2	189	1	0	0	0	0	1	0	0	0	11373	1638	57	3	902	3	PACS2	14	105843171	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	429136	105843171	1506369	3582	101439											
MTA1	9112	broad.mit.edu	37	chr14	105927257	105927257	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccctggaaaaataTgggaaggatttcacggacat	13	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr14:105927257T>C	uc001yqx.2	+	10	1096	c.909T>C	c.(907-909)TAT>TAC	p.Y303Y	MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Silent_p.Y217Y|MTA1_uc001yra.1_Silent_p.Y217Y|MTA1_uc001yrb.2_Silent_p.Y64Y	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	303	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		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)		TGGAAAAATATGGGAAGGATT	0.612													C	105927257	T	C	105927257	2	2	189	1	0	0	0	0	0	0	0	1	9908	1471	51	3		3	MTA1	14	105927257	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	84086	105927257	1422283	3583	101440											
OR4M2	390538	broad.mit.edu	37	chr15	22368607	22368607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattacaccaaggtgacagAatttgttctcactggcctat	7	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:22368607A>G	uc010tzu.1	+	1	32	c.32A>G	c.(31-33)GAA>GGA	p.E11G	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		AAGGTGACAGAATTTGTTCTC	0.333													G	22368607	A	G	22368607	3	3	189	1	0	0	0	0	1	0	0	0	11076	246	9	3	34	3	OR4M2	15	22368607	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08		22368607	80162785	3584	101441											
OR4M2	390538	broad.mit.edu	37	chr15	22368757	22368757	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgacctctcctatgtattTcctgttggctaatctggcct	7	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:22368757T>A	uc010tzu.1	+	1	182	c.182T>A	c.(181-183)TTC>TAC	p.F61Y	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		CCTATGTATTTCCTGTTGGCT	0.383													A	22368757	T	A	22368757	3	1	189	1	0	0	0	0	1	0	0	0	11076	1783	62	5	184	5	OR4M2	15	22368757	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	150	22368757	80162635	3585	101442											
CYFIP1	23191	broad.mit.edu	37	chr15	22955229	22955229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagaaggaccccaagagCggcttcgacataaaagtacc	12	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:22955229C>T	uc001yus.2	+	15	1727	c.1623C>T	c.(1621-1623)AGC>AGT	p.S541S	CYFIP1_uc001yut.2_Silent_p.S541S|CYFIP1_uc010aya.1_Silent_p.S569S|CYFIP1_uc001yuu.2_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	541					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			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		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)		ACCCCAAGAGCGGCTTCGACA	0.647													T	22955229	C	T	22955229	2	4	189	1	0	0	0	0	0	0	0	1	4137	767	27	1		1	CYFIP1	15	22955229	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	586472	22955229	79576163	3586	101443											
NIPA1	123606	broad.mit.edu	37	chr15	23049143	23049143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaggcacaggcagagggCtctctgactggacgggttgt	15	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:23049143C>T	uc001yvc.2	-	5	701	c.676G>A	c.(676-678)GCC>ACC	p.A226T	NIPA1_uc001yvd.2_Missense_Mutation_p.A56T|NIPA1_uc001yve.2_Missense_Mutation_p.A151T	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	226	Helical; (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		AGGCAGAGGGCTCTCTGACTG	0.602													T	23049143	C	T	23049143	3	4	189	1	0	0	0	0	1	0	0	0	10422	797	28	2	317	2	NIPA1	15	23049143	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	93914	23049143	79482249	3587	101444											
NIPA1	123606	broad.mit.edu	37	chr15	23049189	23049189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtcttgggccgccagCccgatgcccttggtggaagg	15	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:23049189C>T	uc001yvc.2	-	5	655	c.630G>A	c.(628-630)GGG>GGA	p.G210G	NIPA1_uc001yvd.2_Silent_p.G40G|NIPA1_uc001yve.2_Silent_p.G135G	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	210	Extracellular (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGGCCGCCAGCCCGATGCCCT	0.617													T	23049189	C	T	23049189	2	4	189	1	0	0	0	0	0	0	0	1	10422	726	26	2		2	NIPA1	15	23049189	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	46	23049189	79482203	3588	101445											
C15orf2	23742	broad.mit.edu	37	chr15	24921511	24921511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagaaggatgaggatcCggtgcagatcgaaggggagg	19	4	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:24921511C>T	uc001ywo.2	+	1	971	c.497C>T	c.(496-498)CCG>CTG	p.P166L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	166					cell differentiation|multicellular organismal development|spermatogenesis			p.P166P(1)		ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GATGAGGATCCGGTGCAGATC	0.632													T	24921511	C	T	24921511	3	4	189	1	0	0	0	0	1	0	0	0	1784	652	23	1	499	1	C15orf2	15	24921511	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1872322	24921511	77609881	3589	101446											
C15orf2	23742	broad.mit.edu	37	chr15	24922752	24922752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtagttaatatggatActactgccccatctcaggtt	8	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:24922752A>G	uc001ywo.2	+	1	2212	c.1738A>G	c.(1738-1740)ACT>GCT	p.T580A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	580					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TAATATGGATACTACTGCCCC	0.473													G	24922752	A	G	24922752	3	3	189	1	0	0	0	0	1	0	0	0	1784	391	14	3	1740	3	C15orf2	15	24922752	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1241	24922752	77608640	3590	101447											
UBE3A	7337	broad.mit.edu	37	chr15	25616547	25616547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacgttaggtgacaaataTacaagtgcattgagaaaggc	10	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:25616547T>C	uc001zaq.2	-	4	783	c.783A>G	c.(781-783)GTA>GTG	p.V261V	uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.V238V|UBE3A_uc001zas.2_Silent_p.V258V|UBE3A_uc001zat.2_Silent_p.V238V	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	261					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		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)		GTGACAAATATACAAGTGCAT	0.373													C	25616547	T	C	25616547	2	2	189	1	0	0	0	0	0	0	0	1	16876	1393	49	3		3	UBE3A	15	25616547	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	693795	25616547	76914845	3591	101448											
ATP10A	57194	broad.mit.edu	37	chr15	25924821	25924821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacatgggggccggtgcGctcagcccctccagcagggt	17	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:25924821G>A	uc010ayu.2	-	21	4273	c.4167C>T	c.(4165-4167)AGC>AGT	p.S1389S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1389	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		GGGCCGGTGCGCTCAGCCCCT	0.682													A	25924821	G	A	25924821	2	1	189	1	0	0	0	0	0	0	0	1	1116	1078	38	1		1	ATP10A	15	25924821	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	308274	25924821	76606571	3592	101449											
ATP10A	57194	broad.mit.edu	37	chr15	25940269	25940269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacgtagcataggcactGgtctagcagggctgcacacg	13	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:25940269G>C	uc010ayu.2	-	14	2891	c.2785C>G	c.(2785-2787)CAG>GAG	p.Q929E		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	929	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CATAGGCACTGGTCTAGCAGG	0.597													C	25940269	G	C	25940269	3	2	189	1	0	0	0	0	1	0	0	0	1116	1357	47	5	1746	5	ATP10A	15	25940269	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	15448	25940269	76591123	3593	101450											
OCA2	4948	broad.mit.edu	37	chr15	28235761	28235761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagtgctgcaagggaAcccagcatggccgccagagt	14	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:28235761A>G	uc001zbh.3	-	10	1187	c.1077T>C	c.(1075-1077)GGT>GGC	p.G359G	OCA2_uc010ayv.2_Intron	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	359	Helical; (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		CTGCAAGGGAACCCAGCATGG	0.542									Oculocutaneous_Albinism				G	28235761	A	G	28235761	2	3	189	1	0	0	0	0	0	0	0	1	10815	30	2	3		3	OCA2	15	28235761	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2295492	28235761	74295631	3594	101451											
HERC2	8924	broad.mit.edu	37	chr15	28446623	28446623	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatattctctctcacataTacagcataatcatcattact	2	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:28446623T>C	uc001zbj.2	-	48	7801	c.7695A>G	c.(7693-7695)GTA>GTG	p.V2565V	HERC2_uc001zbk.1_Silent_p.V100V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2565					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CTCTCACATATACAGCATAAT	0.313													C	28446623	T	C	28446623	2	2	189	1	0	0	0	0	0	0	0	1	7058	1393	49	3		3	HERC2	15	28446623	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	210862	28446623	74084769	3595	101452											
HERC2	8924	broad.mit.edu	37	chr15	28447538	28447538	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaccagtgagagacttcaGggcaaactcgatgttccttc	10	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:28447538G>C	uc001zbj.2	-	46	7541	c.7435C>G	c.(7435-7437)CTG>GTG	p.L2479V	HERC2_uc001zbk.1_Missense_Mutation_p.L14V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2479					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		AGAGACTTCAGGGCAAACTCG	0.567													C	28447538	G	C	28447538	3	2	189	1	0	0	0	0	1	0	0	0	7058	991	35	5	7261	5	HERC2	15	28447538	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	915	28447538	74083854	3596	101453											
HERC2	8924	broad.mit.edu	37	chr15	28474412	28474412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcccaagcgtacagcTtgccaaaggtgacttccagc	10	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:28474412T>C	uc001zbj.2	-	34	5307	c.5201A>G	c.(5200-5202)AAG>AGG	p.K1734R		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1734					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		AGCGTACAGCTTGCCAAAGGT	0.383													C	28474412	T	C	28474412	3	2	189	1	0	0	0	0	1	0	0	0	7058	1609	56	3	9543	3	HERC2	15	28474412	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	26874	28474412	74056980	3597	101454											
HERC2	8924	broad.mit.edu	37	chr15	28478854	28478854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacataacaacaagcgaccgAcctcttccacgggatgctcg	8	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:28478854A>G	uc001zbj.2	-	28	4413	c.4307T>C	c.(4306-4308)GTC>GCC	p.V1436A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1436					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CAAGCGACCGACCTCTTCCAC	0.453													G	28478854	A	G	28478854	3	3	189	1	0	0	0	0	1	0	0	0	7058	275	10	3	10461	3	HERC2	15	28478854	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4442	28478854	74052538	3598	101455											
MTMR15	22909	broad.mit.edu	37	chr15	31197803	31197803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactgttgcttcagaagctAaaatacagctgtcagattca	8	8	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:31197803A>G	uc001zff.2	+	2	1228	c.937A>G	c.(937-939)AAA>GAA	p.K313E	MTMR15_uc001zfc.3_Missense_Mutation_p.K313E|MTMR15_uc010azw.2_Missense_Mutation_p.K313E|MTMR15_uc001zfd.3_Missense_Mutation_p.K313E|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	313					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TTCAGAAGCTAAAATACAGCT	0.413								Direct_reversal_of_damage|Editing_and_processing_nucleases					G	31197803	A	G	31197803	3	3	189	1	0	0	0	0	1	0	0	0	9943	363	13	3	939	3	MTMR15	15	31197803	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2718949	31197803	71333589	3599	101456											
MTMR10	54893	broad.mit.edu	37	chr15	31247018	31247018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtacttcttgaatAttaggcaaggtcttatccaa	8	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:31247018A>G	uc001zfh.1	-	10	1112	c.1014T>C	c.(1012-1014)AAT>AAC	p.N338N	MTMR10_uc010azx.1_Silent_p.N90N|MTMR10_uc001zfi.1_Silent_p.N90N|MTMR10_uc001zfj.2_Silent_p.N256N|MTMR10_uc001zfk.2_Silent_p.N90N	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	338	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		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)		CTTCTTGAATATTAGGCAAGG	0.313													G	31247018	A	G	31247018	2	3	189	1	0	0	0	0	0	0	0	1	9939	446	16	3		3	MTMR10	15	31247018	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	49215	31247018	71284374	3600	101457											
RYR3	6263	broad.mit.edu	37	chr15	33855130	33855130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctgtctgctttgtGcagcatatagccagtggtct	12	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:33855130G>A	uc001zhi.2	+	11	1135	c.1065G>A	c.(1063-1065)GTG>GTA	p.V355V	RYR3_uc010bar.2_Silent_p.V355V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	355	Cytoplasmic (By similarity).|MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TCTGCTTTGTGCAGCATATAG	0.458													A	33855130	G	A	33855130	2	1	189	1	0	0	0	0	0	0	0	1	13770	1306	46	2		2	RYR3	15	33855130	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2608112	33855130	68676262	3601	101458											
RYR3	6263	broad.mit.edu	37	chr15	34150099	34150099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgagcccgatatgaagtGcgacgacatgatgacggtga	14	8	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:34150099G>A	uc001zhi.2	+	99	14196	c.14126G>A	c.(14125-14127)TGC>TAC	p.C4709Y	RYR3_uc010bar.2_Missense_Mutation_p.C4704Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4709				C -> R (in Ref. 6; CAA52326).	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GATATGAAGTGCGACGACATG	0.592													A	34150099	G	A	34150099	3	1	189	1	0	0	0	0	1	0	0	0	13770	1319	46	2	14520	2	RYR3	15	34150099	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	294969	34150099	68381293	3602	101459											
C15orf29	79768	broad.mit.edu	37	chr15	34444996	34444996	+	Frame_Shift_Del	DEL	A	A	-													agagaaaagacttacctcagAaaaaaacccactatattttg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:34444995_34444995GA>G	uc001zhp.3	-	3	594	c.434_434TC>C	c.(433-435)tctfs	p.S145fs	C15orf29_uc010ubz.2_Frame_Shift_Del_p.S49fs|C15orf29_uc010uca.1_Frame_Shift_Del_p.S145fs	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	145						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		ACTTACCTCAGAAAAAAACCC	0.328													-	34444996	A	-	34444996	7	5	189	1	0	1	0	1	0	0	0	0	1789	246	9	0	509	0	C15orf29	15	34444996	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	294897	34444996	68086396	3603	101460											
LPCAT4	254531	broad.mit.edu	37	chr15	34657245	34657245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggttctcagctcgggAcacaactttgggcaggtcac	13	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:34657245A>G	uc001zig.2	-	3	536	c.442T>C	c.(442-444)TCC>CCC	p.S148P	LPCAT4_uc010bav.1_Missense_Mutation_p.S148P	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	148					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						TCAGCTCGGGACACAACTTTG	0.552													G	34657245	A	G	34657245	3	3	189	1	0	0	0	0	1	0	0	0	8913	275	10	3	1180	3	LPCAT4	15	34657245	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	212249	34657245	67874147	3604	101461											
AQR	9716	broad.mit.edu	37	chr15	35189126	35189126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggctgcattccagcaCggatggcttctatctgtgta	11	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:35189126C>T	uc001ziv.2	-	22	2613	c.2432G>A	c.(2431-2433)CGT>CAT	p.R811H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	811						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		CATTCCAGCACGGATGGCTTC	0.274													T	35189126	C	T	35189126	3	4	189	1	0	0	0	0	1	0	0	0	835	536	19	1	2081	1	AQR	15	35189126	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	531881	35189126	67342266	3605	101462											
AQR	9716	broad.mit.edu	37	chr15	35207329	35207329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttaaagttccttagcaggTagtcatgaagagtcaaaaac	10	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:35207329T>C	uc001ziv.2	-	16	1575	c.1394A>G	c.(1393-1395)TAC>TGC	p.Y465C		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	465						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		CCTTAGCAGGTAGTCATGAAG	0.328													C	35207329	T	C	35207329	3	2	189	1	0	0	0	0	1	0	0	0	835	1638	57	3	3143	3	AQR	15	35207329	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	18203	35207329	67324063	3606	101463											
ZNF770	54989	broad.mit.edu	37	chr15	35275452	35275452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactagttgtctaaaggtttTatgacacacatcacattcaa	5	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:35275452T>C	uc001ziw.2	-	3	495	c.184A>G	c.(184-186)AAA>GAA	p.K62E		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	62	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CTAAAGGTTTTATGACACACA	0.348													C	35275452	T	C	35275452	3	2	189	1	0	0	0	0	1	0	0	0	18140	1763	61	3	1895	3	ZNF770	15	35275452	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	68123	35275452	67255940	3607	101464											
MEIS2	4212	broad.mit.edu	37	chr15	37385877	37385877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggtcgatgggcatttTccccttcaaacagctaatgt	10	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:37385877T>C	uc001zjr.2	-	6	1581	c.544A>G	c.(544-546)AAA>GAA	p.K182E	MEIS2_uc001zjl.2_Missense_Mutation_p.K169E|MEIS2_uc010ucj.1_Missense_Mutation_p.K169E|MEIS2_uc001zjm.2_Missense_Mutation_p.K94E|MEIS2_uc001zjn.2_Missense_Mutation_p.K36E|MEIS2_uc001zjo.2_Missense_Mutation_p.K182E|MEIS2_uc001zjp.2_Missense_Mutation_p.K182E|MEIS2_uc001zjs.2_Missense_Mutation_p.K182E|MEIS2_uc001zju.2_Missense_Mutation_p.K169E|MEIS2_uc001zjt.2_Missense_Mutation_p.K182E	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	182					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			ovary(2)	2		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)		ATGGGCATTTTCCCCTTCAAA	0.478													C	37385877	T	C	37385877	3	2	189	1	0	0	0	0	1	0	0	0	9468	1792	62	3	980	3	MEIS2	15	37385877	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2110425	37385877	65145515	3608	101465											
RASGRP1	10125	broad.mit.edu	37	chr15	38786879	38786879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcttctgtgaggacaCtcccatcagcatgatggtcc	9	11	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:38786879C>T	uc001zke.3	-	16	2141	c.1963G>A	c.(1963-1965)GTG>ATG	p.V655M	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Missense_Mutation_p.V620M	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	655					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			large_intestine(1)|ovary(1)	2		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)		TGTGAGGACACTCCCATCAGC	0.537													T	38786879	C	T	38786879	3	4	189	1	0	0	0	0	1	0	0	0	13074	565	20	4	438	4	RASGRP1	15	38786879	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1401002	38786879	63744513	3609	101466											
C15orf53	400359	broad.mit.edu	37	chr15	38988843	38988843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaagaggacctgggcaTttccctctctagtccccgga	11	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:38988843T>C	uc001zkf.1	+	1	45	c.35T>C	c.(34-36)ATT>ACT	p.I12T		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	hypothetical protein LOC400359	12											0		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GACCTGGGCATTTCCCTCTCT	0.547													C	38988843	T	C	38988843	3	2	189	1	0	0	0	0	1	0	0	0	1801	1493	52	3	37	3	C15orf53	15	38988843	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	201964	38988843	63542549	3610	101467											
FSIP1	161835	broad.mit.edu	37	chr15	39893115	39893115	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attcttctgctgcatctttaGtctcctgctcatctgcacat	5	13	6	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:39893115G>C	uc001zki.2	-	12	1930	c.1712C>G	c.(1711-1713)ACT>AGT	p.T571S		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	571										ovary(2)|skin(1)	3		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)		TGCATCTTTAGTCTCCTGCTC	0.313													C	39893115	G	C	39893115	3	2	189	1	0	0	0	0	1	0	0	0	6074	1029	36	5	37	5	FSIP1	15	39893115	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	904272	39893115	62638277	3611	101468											
FSIP1	161835	broad.mit.edu	37	chr15	40034063	40034063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagggatttgagtatgaaAcactgaggaaaaggtgtctt	14	3	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:40034063A>G	uc001zki.2	-	6	816	c.598T>C	c.(598-600)TTT>CTT	p.F200L		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	200										ovary(2)|skin(1)	3		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)		TGAGTATGAAACACTGAGGAA	0.328													G	40034063	A	G	40034063	3	3	189	1	0	0	0	0	1	0	0	0	6074	43	2	3	1175	3	FSIP1	15	40034063	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	140948	40034063	62497329	3612	101469											
EIF2AK4	440275	broad.mit.edu	37	chr15	40260054	40260054	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatccctagtgacttaccAgctgactttcaagattttct	5	12	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:40260054A>G	uc001zkm.1	+	9	1577	c.1527A>G	c.(1525-1527)CCA>CCG	p.P509P	EIF2AK4_uc001zkl.2_Silent_p.P509P|EIF2AK4_uc010bbj.1_Silent_p.P238P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	509	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		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)		GTGACTTACCAGCTGACTTTC	0.463													G	40260054	A	G	40260054	2	3	189	1	0	0	0	0	0	0	0	1	4999	175	7	3		3	EIF2AK4	15	40260054	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	225991	40260054	62271338	3613	101470											
CASC5	57082	broad.mit.edu	37	chr15	40951543	40951543	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcttttacagattgagActtttattctctagctccgc	6	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:40951543A>G	uc010bbs.1	+	26	6959	c.6798A>G	c.(6796-6798)AGA>AGG	p.R2266R	CASC5_uc010bbt.1_Silent_p.R2240R	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	2266	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			breast(3)|central_nervous_system(1)|skin(1)	5		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)		ACAGATTGAGACTTTTATTCT	0.279													G	40951543	A	G	40951543	2	3	189	1	0	0	0	0	0	0	0	1	2663	272	10	3		3	CASC5	15	40951543	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	691489	40951543	61579849	3614	101471											
INO80	54617	broad.mit.edu	37	chr15	41276438	41276438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagtccacgctaatgaagGagtcatctccgtcagcagag	11	11	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:41276438G>A	uc001zni.2	-	33	4247	c.4034C>T	c.(4033-4035)TCC>TTC	p.S1345F	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1345	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			ovary(2)|pancreas(1)|skin(1)	4						GCTAATGAAGGAGTCATCTCC	0.517													A	41276438	G	A	41276438	3	1	189	1	0	0	0	0	1	0	0	0	7746	1174	41	4	652	4	INO80	15	41276438	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	324895	41276438	61254954	3615	101472											
INO80	54617	broad.mit.edu	37	chr15	41379768	41379768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatgctcacctttaagtTtcttttcctccttaaatttc	2	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:41379768T>C	uc001zni.2	-	6	863	c.650A>G	c.(649-651)AAA>AGA	p.K217R	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	217	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.|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			ovary(2)|pancreas(1)|skin(1)	4						ACCTTTAAGTTTCTTTTCCTC	0.413													C	41379768	T	C	41379768	3	2	189	1	0	0	0	0	1	0	0	0	7746	1841	64	3	4144	3	INO80	15	41379768	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	103330	41379768	61151624	3616	101473											
TYRO3	7301	broad.mit.edu	37	chr15	41864656	41864656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggggtaagcctccggaGcagggctaaaggccgtctcc	14	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:41864656G>A	uc001zof.1	+	15	1993	c.1769G>A	c.(1768-1770)AGC>AAC	p.S590N		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	590	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		AGCCTCCGGAGCAGGGCTAAA	0.607													A	41864656	G	A	41864656	3	1	189	1	0	0	0	0	1	0	0	0	16811	971	34	2	1827	2	TYRO3	15	41864656	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	484888	41864656	60666736	3617	101474											
TYRO3	7301	broad.mit.edu	37	chr15	41870425	41870425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccctcaatgagacacAgaggcttttgctgctgcagc	11	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:41870425A>G	uc001zof.1	+	19	2848	c.2624A>G	c.(2623-2625)CAG>CGG	p.Q875R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	875	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		AATGAGACACAGAGGCTTTTG	0.627													G	41870425	A	G	41870425	3	3	189	1	0	0	0	0	1	0	0	0	16811	188	7	3	2698	3	TYRO3	15	41870425	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5769	41870425	60660967	3618	101475											
MGA	23269	broad.mit.edu	37	chr15	41961222	41961222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaggaattttggttactAatcaggatgcctgtgctttg	10	6	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:41961222A>G	uc001zog.1	+	2	221	c.130A>G	c.(130-132)AAT>GAT	p.N44D	MGA_uc010ucy.1_Missense_Mutation_p.N44D|MGA_uc010ucz.1_Missense_Mutation_p.N44D	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	44						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		TTTGGTTACTAATCAGGATGC	0.438													G	41961222	A	G	41961222	3	3	189	1	0	0	0	0	1	0	0	0	9540	362	13	3	132	3	MGA	15	41961222	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	90797	41961222	60570170	3619	101476											
SPTBN5	51332	broad.mit.edu	37	chr15	42171952	42171952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggctcagttcctcctgCtgtcgttggatttgtgtgga	12	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:42171952C>T	uc001zos.2	-	15	3150	c.2817G>A	c.(2815-2817)CAG>CAA	p.Q939Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	974	Spectrin 7.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		GTTCCTCCTGCTGTCGTTGGA	0.617													T	42171952	C	T	42171952	2	4	189	1	0	0	0	0	0	0	0	1	15121	796	28	2		2	SPTBN5	15	42171952	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	210730	42171952	60359440	3620	101477											
TMEM87A	25963	broad.mit.edu	37	chr15	42512335	42512335	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggtgaaaaggcaaaccTaacagaaccaaagtgaacag	9	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:42512335T>C	uc010udd.1	-	16	1563	c.1404_splice	c.e16-1	p.R468_splice		NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1							integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-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;1.03e-06)		AAGGCAAACCTAACAGAACCA	0.333													C	42512335	T	C	42512335	5	2	189	1	0	0	0	0	0	0	1	0	16207	1536	53	3	285	3	TMEM87A	15	42512335	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	340383	42512335	60019057	3621	101478											
CAPN3	825	broad.mit.edu	37	chr15	42652008	42652008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagccacttgccatgcCgaccgtcattagcgcatctg	8	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:42652008C>T	uc001zpn.1	+	1	311	c.5C>T	c.(4-6)CCG>CTG	p.P2L	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.P2L|CAPN3_uc001zpp.1_Missense_Mutation_p.P2L	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	2					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTTGCCATGCCGACCGTCATT	0.537													T	42652008	C	T	42652008	3	4	189	1	0	0	0	0	1	0	0	0	2628	652	23	1	59	1	CAPN3	15	42652008	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	139673	42652008	59879384	3622	101479											
CAPN3	825	broad.mit.edu	37	chr15	42693866	42693866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccaaccctcagtaccGtctgaagctcctggaggagg	12	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:42693866G>A	uc001zpn.1	+	11	1688	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	CAPN3_uc001zpk.1_Missense_Mutation_p.R234H|CAPN3_uc001zpl.1_Missense_Mutation_p.R374H|CAPN3_uc010udf.1_Missense_Mutation_p.R374H|CAPN3_uc010udg.1_Missense_Mutation_p.R326H|CAPN3_uc001zpo.1_Missense_Mutation_p.R461H|CAPN3_uc001zpp.1_Missense_Mutation_p.R413H|CAPN3_uc001zpq.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	461	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCTCAGTACCGTCTGAAGCTC	0.582													A	42693866	G	A	42693866	3	1	189	1	0	0	0	0	1	0	0	0	2628	1145	40	1	1476	1	CAPN3	15	42693866	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	41858	42693866	59837526	3623	101480											
UBR1	197131	broad.mit.edu	37	chr15	43244513	43244513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggctccacagtgaagtgCgtgaaaaatgcaagctccaa	10	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43244513C>T	uc001zqq.2	-	45	5035	c.4969G>A	c.(4969-4971)GCA>ACA	p.A1657T		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1657					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		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)		CAGTGAAGTGCGTGAAAAATG	0.473													T	43244513	C	T	43244513	3	4	189	1	0	0	0	0	1	0	0	0	16898	768	27	1	292	1	UBR1	15	43244513	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	550647	43244513	59286879	3624	101481											
UBR1	197131	broad.mit.edu	37	chr15	43258414	43258414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaaacaatgcagcacagcGaagataaggggtgatgccat	12	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43258414G>A	uc001zqq.2	-	41	4594	c.4528C>T	c.(4528-4530)CGC>TGC	p.R1510C		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	1510					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		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)		GCAGCACAGCGAAGATAAGGG	0.443													A	43258414	G	A	43258414	3	1	189	1	0	0	0	0	1	0	0	0	16898	1058	37	1	749	1	UBR1	15	43258414	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	13901	43258414	59272978	3625	101482											
UBR1	197131	broad.mit.edu	37	chr15	43350584	43350584	+	Frame_Shift_Del	DEL	A	A	-													tttttgtattccatctccatAaaaaaactgctgaagatcaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43350583_43350583TA>T	uc001zqq.3	-	9	1204	c.1138_1138TA>A	c.(1138-1140)atgfs	p.M380fs	UBR1_uc010udk.1_Frame_Shift_Del_p.M380fs	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	380					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)		TCCATCTCCATAAAAAAACTG	0.333													-	43350584	A	-	43350584	7	5	189	1	0	1	0	1	0	0	0	0	16898	359	13	0	4264	0	UBR1	15	43350584	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	92170	43350584	59180808	3626	101483											
TMEM62	80021	broad.mit.edu	37	chr15	43441276	43441276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatacacttggtggactgAtgcctgttttgcacactcgt	9	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43441276A>G	uc001zqr.2	+	7	1072	c.793A>G	c.(793-795)ATG>GTG	p.M265V	TMEM62_uc010bda.2_Missense_Mutation_p.M135V	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	265						integral to membrane				ovary(1)|breast(1)	2		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)		TGGTGGACTGATGCCTGTTTT	0.433													G	43441276	A	G	43441276	3	3	189	1	0	0	0	0	1	0	0	0	16186	333	12	3	819	3	TMEM62	15	43441276	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	90692	43441276	59090116	3627	101484											
EPB42	2038	broad.mit.edu	37	chr15	43508513	43508513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcaggcagaaatgcaCggactggagcgcggaagtac	16	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43508513C>T	uc001zra.3	-	2	449	c.149G>A	c.(148-150)CGT>CAT	p.R50H	EPB42_uc010bde.2_Translation_Start_Site|EPB42_uc001zrb.3_Missense_Mutation_p.R80H|EPB42_uc010udm.1_Missense_Mutation_p.R50H	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	50					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			ovary(2)	2		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)		CAGAAATGCACGGACTGGAGC	0.597													T	43508513	C	T	43508513	3	4	189	1	0	0	0	0	1	0	0	0	5158	536	19	1	1974	1	EPB42	15	43508513	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	67237	43508513	59022879	3628	101485											
TGM5	9333	broad.mit.edu	37	chr15	43531051	43531051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctgtgatgtcatcccGctcgtcactctggatgctct	9	13	5	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43531051G>A	uc001zrd.1	-	9	1317	c.1309C>T	c.(1309-1311)CGG>TGG	p.R437W	TGM5_uc001zrc.1_Missense_Mutation_p.R94W|TGM5_uc001zre.1_Missense_Mutation_p.R355W	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	437					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		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)	ATGTCATCCCGCTCGTCACTC	0.542													A	43531051	G	A	43531051	3	1	189	1	0	0	0	0	1	0	0	0	15830	1086	38	1	873	1	TGM5	15	43531051	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	22538	43531051	59000341	3629	101486											
TGM7	116179	broad.mit.edu	37	chr15	43568758	43568758	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcggggtccagctttggtCgggtagaggtccagttgaat	17	7	0	2	rs143065351		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43568758C>T	uc001zrf.1	-	13	2033	c.2028G>A	c.(2026-2028)CCG>CCA	p.P676P		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	676					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAGCTTTGGTCGGGTAGAGGT	0.572													T	43568758	C	T	43568758	2	4	189	1	0	0	0	0	0	0	0	1	15832	871	31	1		1	TGM7	15	43568758	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	37707	43568758	58962634	3630	101487											
TP53BP1	7158	broad.mit.edu	37	chr15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-													cagcaacagcagtagatccaTtttttctttcaccagttgca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43733756_43733756AT>A	uc001zrs.3	-	14	3199	c.3051_3051AT>T	c.(3049-3051)aatfs	p.N1017fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.N1017fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.N1022fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1017					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		CAGTAGATCCATTTTTTCTTT	0.393								Other conserved DNA damage response genes					-	43733757	T	-	43733757	7	5	189	1	0	1	0	1	0	0	0	0	16380	1493	52	0	2924	0	TP53BP1	15	43733757	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	164999	43733757	58797635	3631	101488											
MAP1A	4130	broad.mit.edu	37	chr15	43817423	43817423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatacctctcaccacacagCtcccatgtctgttccagagc	7	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43817423C>T	uc001zrt.2	+	4	4219	c.3752C>T	c.(3751-3753)GCT>GTT	p.A1251V		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1251						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	CACCACACAGCTCCCATGTCT	0.547													T	43817423	C	T	43817423	3	4	189	1	0	0	0	0	1	0	0	0	9227	797	28	2	3754	2	MAP1A	15	43817423	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	83666	43817423	58713969	3632	101489											
MAP1A	4130	broad.mit.edu	37	chr15	43819209	43819209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacatcccaccctgggtGcccaaggacagacccctccc	9	19	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43819209G>A	uc001zrt.2	+	4	6005	c.5538G>A	c.(5536-5538)GTG>GTA	p.V1846V		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1846						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	CACCCTGGGTGCCCAAGGACA	0.622													A	43819209	G	A	43819209	2	1	189	1	0	0	0	0	0	0	0	1	9227	1306	46	2		2	MAP1A	15	43819209	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1786	43819209	58712183	3633	101490											
MAP1A	4130	broad.mit.edu	37	chr15	43819857	43819857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaccccacctgcagtTcccccccgtgctcctatcct	5	22	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:43819857T>C	uc001zrt.2	+	4	6653	c.6186T>C	c.(6184-6186)GTT>GTC	p.V2062V		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2062						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	CACCTGCAGTTCCCCCCCGTG	0.612													C	43819857	T	C	43819857	2	2	189	1	0	0	0	0	0	0	0	1	9227	1770	62	3		3	MAP1A	15	43819857	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	648	43819857	58711535	3634	101491											
ELL3	80237	broad.mit.edu	37	chr15	44065395	44065395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaggtactcacagcgAcgcttttcttctctgtaact	9	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:44065395A>G	uc001zsw.1	-	11	1516	c.1113T>C	c.(1111-1113)CGT>CGC	p.R371R	ELL3_uc001zsv.1_Silent_p.R325R|ELL3_uc001zsx.1_Silent_p.R255R	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	371					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				ovary(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)		ACTCACAGCGACGCTTTTCTT	0.428													G	44065395	A	G	44065395	2	3	189	1	0	0	0	0	0	0	0	1	5064	262	10	3		3	ELL3	15	44065395	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	245538	44065395	58465997	3635	101492											
WDR76	79968	broad.mit.edu	37	chr15	44149345	44149345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcatagacagtattttAtcactgccggattgaggtat	10	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:44149345A>G	uc001zti.1	+	10	1416	c.1393A>G	c.(1393-1395)ATC>GTC	p.I465V		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	465	WD 4.										0		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)		ACAGTATTTTATCACTGCCGG	0.363													G	44149345	A	G	44149345	3	3	189	1	0	0	0	0	1	0	0	0	17323	449	16	3	1431	3	WDR76	15	44149345	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	83950	44149345	58382047	3636	101493											
SPG11	80208	broad.mit.edu	37	chr15	44913997	44913997	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggatggattcttgtgtTagttgatcccaccacagagc	11	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:44913997T>C	uc001ztx.2	-	14	2611	c.2580A>G	c.(2578-2580)CTA>CTG	p.L860L	SPG11_uc010ueh.1_Silent_p.L860L|SPG11_uc010uei.1_Silent_p.L860L|SPG11_uc001ztz.1_5'Flank	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	860	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		ATTCTTGTGTTAGTTGATCCC	0.383													C	44913997	T	C	44913997	2	2	189	1	0	0	0	0	0	0	0	1	15040	1741	61	3		3	SPG11	15	44913997	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	764652	44913997	57617395	3637	101494											
SPG11	80208	broad.mit.edu	37	chr15	44914121	44914121	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaaaaaatcttgttccTttatccagtacctaaaaaca	4	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:44914121T>A	uc001ztx.2	-	14	2487	c.2456A>T	c.(2455-2457)AAG>ATG	p.K819M	SPG11_uc010ueh.1_Missense_Mutation_p.K819M|SPG11_uc010uei.1_Missense_Mutation_p.K819M|SPG11_uc001ztz.1_5'Flank	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	819	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		ATCTTGTTCCTTTATCCAGTA	0.289													A	44914121	T	A	44914121	3	1	189	1	0	0	0	0	1	0	0	0	15040	1609	56	5	4983	5	SPG11	15	44914121	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	124	44914121	57617271	3638	101495											
B2M	567	broad.mit.edu	37	chr15	45007737	45007755	+	Frame_Shift_Del	DEL	AATGGAGAGAGAATTGAAA	AATGGAGAGAGAATTGAAA	-													ttgaagttgacttactgaagAatggagagagaattgaaaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:45007736_45007754GAATGGAGAGAGAATTGAAA>G	uc001zuc.3	+	1	243_261	c.183_201GAATGGAGAGAGAATTGAAA>G	c.(181-201)aagaatggagagagaattgaafs	p.K61fs	B2M_uc010uek.1_Frame_Shift_Del_p.K61fs|B2M_uc010bdx.1_Frame_Shift_Del_p.K61fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	61	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	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.K61_L74del(2)|p.N62T(2)|p.K61fs*7(1)|p.V69fs*34(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)		ACTTACTGAAGAATGGAGAGAGAATTGAAAAAGTGGAGC	0.42													-	45007755	AATGGAGAGAGAATTGAAA	-	45007737	7	5	189	1	0	1	0	1	0	0	0	0	1244	246	9	0	190	0	B2M	15	45007737	Frame_Shift_Del	DEL	AATGGAGAGAGAATTGAAA	TCGA-CG-5721-01A-11D-1600-08	93616	45007737	57523655	3639	101496											
B2M	567	broad.mit.edu	37	chr15	45007825	45007825	+	Frame_Shift_Del	DEL	C	C	-													cttgtactacactgaattcaCccccactgaaaaagatgagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:45007824_45007824AC>A	uc001zuc.3	+	1	331	c.271_271AC>A	c.(271-273)accfs	p.T91fs	B2M_uc010uek.1_Frame_Shift_Del_p.T91fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	91	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	Golgi membrane|MHC class I protein complex|early endosome membrane	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)		CACTGAATTCACCCCCACTGA	0.418													-	45007825	C	-	45007825	7	5	189	1	0	1	0	1	0	0	0	0	1244	507	18	0	278	0	B2M	15	45007825	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	88	45007825	57523567	3640	101497											
B2M	567	broad.mit.edu	37	chr15	45007846	45007846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccactgaaaaagatgagtAtgcctgccgtgtgaaccatg	10	11	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:45007846A>G	uc001zuc.2	+	2	353	c.293A>G	c.(292-294)TAT>TGT	p.Y98C	B2M_uc010uek.1_Missense_Mutation_p.Y98C|B2M_uc010bdx.1_Missense_Mutation_p.M71V	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	98	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			ovary(2)|skin(1)	3		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)		AAAGATGAGTATGCCTGCCGT	0.413													G	45007846	A	G	45007846	3	3	189	1	0	0	0	0	1	0	0	0	1244	449	16	3	299	3	B2M	15	45007846	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	21	45007846	57523546	3641	101498											
TRIM69	140691	broad.mit.edu	37	chr15	45050837	45050837	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaacaagctacatctgCagcaacatgtgtccatggag	10	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:45050837C>A	uc001zuf.2	+	5	1493	c.598C>A	c.(598-600)CAG>AAG	p.Q200K	TRIM69_uc001zui.1_5'UTR|TRIM69_uc010bdy.1_5'UTR|TRIM69_uc001zug.1_Missense_Mutation_p.Q200K|TRIM69_uc001zuh.1_Missense_Mutation_p.Q41K	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	200	Potential.				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCTACATCTGCAGCAACATGT	0.483													A	45050837	C	A	45050837	3	1	189	1	0	0	0	0	1	0	0	0	16539	711	25	5	612	5	TRIM69	15	45050837	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	42991	45050837	57480555	3642	101499											
SLC28A2	9153	broad.mit.edu	37	chr15	45567685	45567685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttactaactgctgtggaTtctacaacaataccgtctgt	6	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:45567685T>C	uc001zva.2	+	18	2016	c.1951T>C	c.(1951-1953)TTC>CTC	p.F651L		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	651					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		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)		CTGCTGTGGATTCTACAACAA	0.428													C	45567685	T	C	45567685	3	2	189	1	0	0	0	0	1	0	0	0	14532	1493	52	3	2017	3	SLC28A2	15	45567685	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	516848	45567685	56963707	3643	101500											
GATM	2628	broad.mit.edu	37	chr15	45658660	45658660	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtcacaaattttcccTgagcagccaatttgtgtctg	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:45658660T>C	uc001zvc.2	-	5	1051	c.722A>G	c.(721-723)CAG>CGG	p.Q241R	GATM_uc001zvb.2_Missense_Mutation_p.Q112R|GATM_uc010uev.1_Missense_Mutation_p.Q294R	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	241					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		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)	AAATTTTCCCTGAGCAGCCAA	0.418													C	45658660	T	C	45658660	3	2	189	1	0	0	0	0	1	0	0	0	6263	1580	55	3	569	3	GATM	15	45658660	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	90975	45658660	56872732	3644	101501											
SPATA5L1	79029	broad.mit.edu	37	chr15	45702638	45702638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatattcagccctcatcGtttcgaagcgtcattggatt	7	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:45702638G>A	uc001zve.2	+	3	1453	c.1344G>A	c.(1342-1344)TCG>TCA	p.S448S	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	448						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		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)		AGCCCTCATCGTTTCGAAGCG	0.383													A	45702638	G	A	45702638	2	1	189	1	0	0	0	0	0	0	0	1	15011	1132	40	1		1	SPATA5L1	15	45702638	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	43978	45702638	56828754	3645	101502											
SEMA6D	80031	broad.mit.edu	37	chr15	48056245	48056245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccactgtggtcggggtgTttaccacgcagctcaatagg	12	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:48056245T>C	uc010bek.2	+	10	1306	c.946T>C	c.(946-948)TTT>CTT	p.F316L	SEMA6D_uc001zvw.2_Missense_Mutation_p.F316L|SEMA6D_uc001zvx.1_Missense_Mutation_p.F316L|SEMA6D_uc001zvy.2_Missense_Mutation_p.F316L|SEMA6D_uc001zvz.2_Missense_Mutation_p.F316L|SEMA6D_uc001zwa.2_Missense_Mutation_p.F316L|SEMA6D_uc001zwb.2_Missense_Mutation_p.F316L|SEMA6D_uc001zwc.2_Missense_Mutation_p.F316L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	316	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		GGTCGGGGTGTTTACCACGCA	0.483													C	48056245	T	C	48056245	3	2	189	1	0	0	0	0	1	0	0	0	14042	1725	60	3	980	3	SEMA6D	15	48056245	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2353607	48056245	54475147	3646	101503											
SLC12A1	6557	broad.mit.edu	37	chr15	48527143	48527144	+	Frame_Shift_Ins	INS	-	-	T													ttcttctctgtctttgccatINSttttttcccagcagctactg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:48527142_48527143A>AT	uc001zwn.4	+	8	1372_1373	c.1156_1157A>AT	c.(1156-1158)attfs	p.I386fs	SLC12A1_uc010uew.1_Frame_Shift_Ins_p.I192fs|SLC12A1_uc010bem.3_Frame_Shift_Ins_p.I386fs|SLC12A1_uc010uex.2_Frame_Shift_Ins_p.I386fs|SLC12A1_uc001zwq.4_Frame_Shift_Ins_p.I157fs|SLC12A1_uc001zwr.4_Frame_Shift_Ins_p.I113fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	386					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)	TGTCTTTGCCATTTTTTTCCCA	0.431													T	48527144	-	T	48527143	7	5	189	1	0	1	1	0	0	0	0	0	14382	1493	52	0	1287	0	SLC12A1	15	48527143	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	470898	48527143	54004249	3647	101504											
SLC12A1	6557	broad.mit.edu	37	chr15	48580325	48580325	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcactcaatttaaaaagaaAcaagaaaaaggcacaattga	6	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:48580325A>G	uc001zwn.3	+	22	2931	c.2715A>G	c.(2713-2715)AAA>AAG	p.K905K	SLC12A1_uc001zwq.3_Silent_p.K676K|SLC12A1_uc001zwr.3_Silent_p.K632K	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	905	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		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)	TTAAAAAGAAACAAGAAAAAG	0.383													G	48580325	A	G	48580325	2	3	189	1	0	0	0	0	0	0	0	1	14382	40	2	3		3	SLC12A1	15	48580325	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	53182	48580325	53951067	3648	101505											
FBN1	2200	broad.mit.edu	37	chr15	48707828	48707828	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcctgcgcagagccAcattcattgatgtcttggca	13	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:48707828A>G	uc001zwx.1	-	64	8284	c.7956T>C	c.(7954-7956)TGT>TGC	p.C2652C	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2652	EGF-like 47; calcium-binding.		C -> G (in MFS).		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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCGCAGAGCCACATTCATTGA	0.572													G	48707828	A	G	48707828	2	3	189	1	0	0	0	0	0	0	0	1	5702	157	6	3		3	FBN1	15	48707828	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	127503	48707828	53823564	3649	101506											
CEP152	22995	broad.mit.edu	37	chr15	49048376	49048376	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatagtccattctctacgActctggtctagacaagtttg	8	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:49048376A>G	uc001zwy.2	-	20	3103	c.3069T>C	c.(3067-3069)AGT>AGC	p.S1023S	CEP152_uc001zwz.2_Silent_p.S1023S|CEP152_uc001zxa.1_Silent_p.S930S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1023					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATTCTCTACGACTCTGGTCTA	0.408													G	49048376	A	G	49048376	2	3	189	1	0	0	0	0	0	0	0	1	3248	272	10	3		3	CEP152	15	49048376	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	340548	49048376	53483016	3650	101507											
CEP152	22995	broad.mit.edu	37	chr15	49076171	49076171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctaccagacacctaccGgactgcaacaagtgggcaca	10	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:49076171G>A	uc001zwy.2	-	10	1354	c.1320C>T	c.(1318-1320)TCC>TCT	p.S440S	CEP152_uc001zwz.2_Silent_p.S440S|CEP152_uc001zxa.1_Silent_p.S347S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	440	Potential.				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GACACCTACCGGACTGCAACA	0.433													A	49076171	G	A	49076171	2	1	189	1	0	0	0	0	0	0	0	1	3248	1130	39	1		1	CEP152	15	49076171	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	27795	49076171	53455221	3651	101508											
C15orf33	196951	broad.mit.edu	37	chr15	49833967	49833967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatgcttcatggaacgTtgcatatatggcttgtgcca	11	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:49833967T>C	uc001zxl.2	-	10	1078	c.784A>G	c.(784-786)ACG>GCG	p.T262A	C15orf33_uc001zxm.2_Missense_Mutation_p.T228A	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	262										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TCATGGAACGTTGCATATATG	0.279													C	49833967	T	C	49833967	3	2	189	1	0	0	0	0	1	0	0	0	1791	1725	60	3	770	3	C15orf33	15	49833967	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	757796	49833967	52697425	3652	101509											
TRPM7	54822	broad.mit.edu	37	chr15	50867177	50867177	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcatgttctgaccaggtacActgtactttgacagctcttc	7	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:50867177A>T	uc001zyt.3	-	34	5155	c.4891T>A	c.(4891-4893)TGT>AGT	p.C1631S	TRPM7_uc001zyr.2_Missense_Mutation_p.C68S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1631	Cytoplasmic (Potential).|Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GACCAGGTACACTGTACTTTG	0.398													T	50867177	A	T	50867177	3	4	189	1	0	0	0	0	1	0	0	0	16588	159	6	5	730	5	TRPM7	15	50867177	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1033210	50867177	51664215	3653	101510											
TRPM7	54822	broad.mit.edu	37	chr15	50897284	50897284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcactgatgttgaagtAatcactaaaccatactttaa	5	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:50897284A>G	uc001zyt.3	-	21	3031	c.2767T>C	c.(2767-2769)TAC>CAC	p.Y923H	TRPM7_uc010bew.1_Missense_Mutation_p.Y923H|TRPM7_uc001zyu.2_Missense_Mutation_p.Y481H	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	923	Helical; (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATGTTGAAGTAATCACTAAAC	0.303													G	50897284	A	G	50897284	3	3	189	1	0	0	0	0	1	0	0	0	16588	362	13	3	2906	3	TRPM7	15	50897284	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	30107	50897284	51634108	3654	101511											
SPPL2A	84888	broad.mit.edu	37	chr15	51028334	51028334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacagcccaaacaacagctActgctatgcacagtccagag	7	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:51028334A>G	uc001zyv.2	-	8	1076	c.896T>C	c.(895-897)GTA>GCA	p.V299A		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	signal peptide peptidase-like 2A	299	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity				0				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AACAACAGCTACTGCTATGCA	0.363													G	51028334	A	G	51028334	3	3	189	1	0	0	0	0	1	0	0	0	15087	391	14	3	698	3	SPPL2A	15	51028334	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	131050	51028334	51503058	3655	101512											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350348	51350348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgacaatggtcatggcGgtctggttcagcttcttccg	12	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:51350348G>A	uc001zyy.2	-	3	709	c.609C>T	c.(607-609)ACC>ACT	p.T203T		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	203											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGGTCATGGCGGTCTGGTTCA	0.507													A	51350348	G	A	51350348	2	1	189	1	0	0	0	0	0	0	0	1	16276	1103	39	1		1	TNFAIP8L3	15	51350348	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	322014	51350348	51181044	3656	101513											
CYP19A1	1588	broad.mit.edu	37	chr15	51503171	51503171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagtgtaacgaggatgGctttcatcatcaccatggcg	11	9	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:51503171G>A	uc001zyz.3	-	11	1597	c.1346C>T	c.(1345-1347)GCC>GTC	p.A449V	CYP19A1_uc001zza.3_Missense_Mutation_p.A449V	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	449					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				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)	AACGAGGATGGCTTTCATCAT	0.473													A	51503171	G	A	51503171	3	1	189	1	0	0	0	0	1	0	0	0	4148	1203	42	2	169	2	CYP19A1	15	51503171	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	152823	51503171	51028221	3657	101514											
DMXL2	23312	broad.mit.edu	37	chr15	51827880	51827880	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagattctgggtctgacaAttcatctaataatttccttg	7	7	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:51827880A>G	uc002abf.2	-	13	2641	c.2416T>C	c.(2416-2418)TTG>CTG	p.L806L	DMXL2_uc010ufy.1_Silent_p.L806L|DMXL2_uc010bfa.2_Silent_p.L806L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	806						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GGGTCTGACAATTCATCTAAT	0.343													G	51827880	A	G	51827880	2	3	189	1	0	0	0	0	0	0	0	1	4595	98	4	3		3	DMXL2	15	51827880	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	324709	51827880	50703512	3658	101515											
MYO5C	55930	broad.mit.edu	37	chr15	52564923	52564923	+	Splice_Site	DEL	A	A	-													cttggcatttccaacggcctAaaaaaaataagactctattg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:52564922_52564922TA>T	uc010bff.3	-	6	769	c.607_splice	c.e6-1	p.A203_splice	MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	203	Myosin head-like.					myosin complex	ATP binding|actin 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)		TCCAACGGCCTAAAAAAAATA	0.363													-	52564923	A	-	52564923	8	5	189	1	0	1	0	1	0	0	1	0	10080	377	13	0		0	MYO5C	15	52564923	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	737043	52564923	49966469	3659	101516											
MYO5A	4644	broad.mit.edu	37	chr15	52662616	52662616	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttgtagtctttgttcTttaaacatacacataagtaa	6	6	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:52662616T>C	uc002aby.2	-	22	3062	c.2818_splice	c.e22-1	p.N940_splice	MYO5A_uc002abx.3_Splice_Site_p.N940_splice|MYO5A_uc010uge.1_Splice_Site_p.N809_splice	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1						actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTCTTTGTTCTTTAAACATAC	0.308													C	52662616	T	C	52662616	5	2	189	1	0	0	0	0	0	0	1	0	10078	1623	56	3	2831	3	MYO5A	15	52662616	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	97693	52662616	49868776	3660	101517											
MYO5A	4644	broad.mit.edu	37	chr15	52668673	52668673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcagctctcagtttgTcagctctcaatttttctaga	8	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:52668673T>C	uc002aby.2	-	19	2535	c.2291A>G	c.(2290-2292)GAC>GGC	p.D764G	MYO5A_uc002abx.3_Missense_Mutation_p.D764G|MYO5A_uc010uge.1_Missense_Mutation_p.D633G	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	764	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTCAGTTTGTCAGCTCTCAA	0.478													C	52668673	T	C	52668673	3	2	189	1	0	0	0	0	1	0	0	0	10078	1667	58	3	3368	3	MYO5A	15	52668673	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6057	52668673	49862719	3661	101518											
KIAA1370	56204	broad.mit.edu	37	chr15	52902434	52902434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattagtgtgaatactgcacGtcaaaactggataattagat	8	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:52902434G>A	uc002acg.3	-	6	830	c.677C>T	c.(676-678)ACG>ATG	p.T226M	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.T138M|KIAA1370_uc010ugf.1_Missense_Mutation_p.T233M	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	226											0				all cancers(107;0.0803)		AATACTGCACGTCAAAACTGG	0.378													A	52902434	G	A	52902434	3	1	189	1	0	0	0	0	1	0	0	0	8226	1145	40	1	2585	1	KIAA1370	15	52902434	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	233761	52902434	49628958	3662	101519											
ONECUT1	3175	broad.mit.edu	37	chr15	53049965	53049965	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgtagagttcgacgctgGacatctgtgaagaccaacct	11	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:53049965G>A	uc002aci.1	-	2	1313	c.1185C>T	c.(1183-1185)GTC>GTT	p.V395V		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	395	Homeobox.				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				0				all cancers(107;0.0708)		TTCGACGCTGGACATCTGTGA	0.458													A	53049965	G	A	53049965	2	1	189	1	0	0	0	0	0	0	0	1	10868	1161	41	4		4	ONECUT1	15	53049965	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	147531	53049965	49481427	3663	101520											
ONECUT1	3175	broad.mit.edu	37	chr15	53081197	53081197	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatacgctgcgccacctcTttggtattgatctcttccat	8	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:53081197T>G	uc002aci.1	-	1	1013	c.885A>C	c.(883-885)AAA>AAC	p.K295N		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	295	CUT.				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				0				all cancers(107;0.0708)		GCGCCACCTCTTTGGTATTGA	0.627													G	53081197	T	G	53081197	3	3	189	1	0	0	0	0	1	0	0	0	10868	1606	56	5	520	5	ONECUT1	15	53081197	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	31232	53081197	49450195	3664	101521											
UNC13C	440279	broad.mit.edu	37	chr15	54793148	54793148	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgccctaatcctgaagcatTatctcacttaatgagaagat	6	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:54793148T>A	uc002ack.2	+	20	5273	c.5273T>A	c.(5272-5274)TTA>TAA	p.L1758*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1758	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCTGAAGCATTATCTCACTTA	0.378													A	54793148	T	A	54793148	4	1	189	1	0	0	0	0	0	1	0	0	16983	1764	61	5	5351	5	UNC13C	15	54793148	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1711951	54793148	47738244	3665	101522											
UNC13C	440279	broad.mit.edu	37	chr15	54803967	54803967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagccctgtatcttgatgaAcaatattcaacaattgcggg	8	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:54803967A>G	uc002ack.2	+	22	5396	c.5396A>G	c.(5395-5397)AAC>AGC	p.N1799S		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1799					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTTGATGAACAATATTCAA	0.323													G	54803967	A	G	54803967	3	3	189	1	0	0	0	0	1	0	0	0	16983	43	2	3	5482	3	UNC13C	15	54803967	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	10819	54803967	47727425	3666	101523											
PIGB	9488	broad.mit.edu	37	chr15	55632864	55632864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgctgcagaactggggaAcattttatggttctcatcca	10	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:55632864A>G	uc002act.2	+	8	1217	c.901A>G	c.(901-903)ACA>GCA	p.T301A	PIGB_uc010ugg.1_Missense_Mutation_p.T106A	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	301					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		GAACTGGGGAACATTTTATGG	0.398													G	55632864	A	G	55632864	3	3	189	1	0	0	0	0	1	0	0	0	11885	43	2	3	931	3	PIGB	15	55632864	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	828897	55632864	46898528	3667	101524											
CCPG1	9236	broad.mit.edu	37	chr15	55652756	55652756	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttgccatgtaactgactAccacttaactgctggagttc	8	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:55652756A>G	uc002acv.1	-	8	1380	c.1215T>C	c.(1213-1215)GGT>GGC	p.G405G	CCPG1_uc002acy.2_Silent_p.G405G|CCPG1_uc002acu.1_Silent_p.G261G|CCPG1_uc002acw.1_Silent_p.G130G|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Silent_p.G405G|CCPG1_uc002acz.1_Silent_p.G405G	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	405	Potential.|Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		GTAACTGACTACCACTTAACT	0.438													G	55652756	A	G	55652756	2	3	189	1	0	0	0	0	0	0	0	1	2938	378	14	3		3	CCPG1	15	55652756	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	19892	55652756	46878636	3668	101525											
PYGO1	26108	broad.mit.edu	37	chr15	55839009	55839009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcattattataagatggatTaccgaaacttgaattatcat	6	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:55839009T>C	uc010bfl.1	-	3	528	c.472A>G	c.(472-474)AAT>GAT	p.N158D	PYGO1_uc002adf.1_Missense_Mutation_p.N158D	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	158	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TAAGATGGATTACCGAAACTT	0.393													C	55839009	T	C	55839009	3	2	189	1	0	0	0	0	1	0	0	0	12863	1754	61	3	791	3	PYGO1	15	55839009	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	186253	55839009	46692383	3669	101526											
PRTG	283659	broad.mit.edu	37	chr15	55972312	55972312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgccaggggtagtggcccGacaaacatatactccagcat	11	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:55972312G>A	uc002adg.2	-	6	961	c.913C>T	c.(913-915)CGG>TGG	p.R305W		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	305	Ig-like 3.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTAGTGGCCCGACAAACATAT	0.408													A	55972312	G	A	55972312	3	1	189	1	0	0	0	0	1	0	0	0	12638	1057	37	1	2599	1	PRTG	15	55972312	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	133303	55972312	46559080	3670	101527											
NEDD4	4734	broad.mit.edu	37	chr15	56140717	56140717	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaatcgcactgcacatActgtgatttatgtagaagat	8	6	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:56140717A>G	uc002adj.2	-	12	3040	c.2740_splice	c.e12+1	p.N914_splice	NEDD4_uc002adl.2_Splice_Site_p.N495_splice|NEDD4_uc002adi.2_Splice_Site_p.N842_splice|NEDD4_uc010ugj.1_Splice_Site_p.N898_splice|NEDD4_uc010bfm.2_Splice_Site_p.N897_splice|NEDD4_uc002adk.2_Splice_Site	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally						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			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CACTGCACATACTGTGATTTA	0.303													G	56140717	A	G	56140717	5	3	189	1	0	0	0	0	0	0	1	0	10310	405	14	3	1273	3	NEDD4	15	56140717	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	168405	56140717	46390675	3671	101528											
NEDD4	4734	broad.mit.edu	37	chr15	56207860	56207860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcaccatttgttgtttcAcagtctaatgtagctgcttt	6	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:56207860A>G	uc002adj.2	-	1	1470	c.1170T>C	c.(1168-1170)TGT>TGC	p.C390C	NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Silent_p.C390C|NEDD4_uc010ugj.1_Silent_p.C390C|NEDD4_uc010bfm.2_Silent_p.C390C|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	390					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			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGTTGTTTCACAGTCTAATG	0.373													G	56207860	A	G	56207860	2	3	189	1	0	0	0	0	0	0	0	1	10310	157	6	3		3	NEDD4	15	56207860	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	67143	56207860	46323532	3672	101529											
ZNF280D	54816	broad.mit.edu	37	chr15	56958612	56958612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcatatgatttacatAggctttgctacagctagtgt	7	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:56958612A>G	uc002adu.2	-	16	2192	c.1975T>C	c.(1975-1977)TAT>CAT	p.Y659H	ZNF280D_uc002adv.2_Missense_Mutation_p.Y646H|ZNF280D_uc010bfq.2_Missense_Mutation_p.Y659H|ZNF280D_uc002adw.1_Missense_Mutation_p.Y687H|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATTTACATAGGCTTTGCTA	0.323													G	56958612	A	G	56958612	3	3	189	1	0	0	0	0	1	0	0	0	17814	420	15	3	992	3	ZNF280D	15	56958612	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	750752	56958612	45572780	3673	101530											
ZNF280D	54816	broad.mit.edu	37	chr15	56970887	56970887	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcatggggcgtatgtgtActttcgatgtgacactgcaa	11	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:56970887A>G	uc002adu.2	-	11	1354	c.1137T>C	c.(1135-1137)AGT>AGC	p.S379S	ZNF280D_uc002adv.2_Silent_p.S366S|ZNF280D_uc010bfq.2_Silent_p.S379S|ZNF280D_uc002adw.1_Silent_p.S407S|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	379	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCGTATGTGTACTTTCGATGT	0.398													G	56970887	A	G	56970887	2	3	189	1	0	0	0	0	0	0	0	1	17814	388	14	3		3	ZNF280D	15	56970887	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	12275	56970887	45560505	3674	101531											
SLTM	79811	broad.mit.edu	37	chr15	59186298	59186298	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatccttacttgctacttCtatcactcgtatttttttta	2	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:59186298C>T	uc002afp.2	-	11	1560	c.1472G>A	c.(1471-1473)AGA>AAA	p.R491K	SLTM_uc002afn.2_Missense_Mutation_p.R60K|SLTM_uc002afo.2_Missense_Mutation_p.R473K|SLTM_uc002afq.2_Missense_Mutation_p.R60K|SLTM_uc010bgd.2_Missense_Mutation_p.R60K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	491					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CTTGCTACTTCTATCACTCGT	0.299													T	59186298	C	T	59186298	3	4	189	1	0	0	0	0	1	0	0	0	14754	913	32	4	1676	4	SLTM	15	59186298	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2215411	59186298	43345094	3675	101532											
RNF111	54778	broad.mit.edu	37	chr15	59323672	59323673	+	Frame_Shift_Ins	INS	-	-	A													catgcagaaagagatttgtaINSaaaaataattcctcacagag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:59323671_59323672T>TA	uc002afv.3	+	1	929_930	c.650_651T>TA	c.(649-651)gtafs	p.V217fs	RNF111_uc002afs.3_Frame_Shift_Ins_p.V217fs|RNF111_uc002aft.3_Frame_Shift_Ins_p.V217fs|RNF111_uc002afu.3_Frame_Shift_Ins_p.V217fs|RNF111_uc002afw.3_Frame_Shift_Ins_p.V217fs	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	217					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)		AAGAGATTTGTAAAAAATAATT	0.406													A	59323673	-	A	59323672	7	5	189	1	0	1	1	0	0	0	0	0	13425	349	13	0	653	0	RNF111	15	59323672	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	137374	59323672	43207720	3676	101533											
CCNB2	9133	broad.mit.edu	37	chr15	59417071	59417071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccccactgataggaaggTcctaggctgccgtggcccct	11	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:59417071T>C	uc002afz.2	+	9	1340	c.1192T>C	c.(1192-1194)TCC>CCC	p.S398P	CCNB2_uc010bge.2_Missense_Mutation_p.S270P	NM_004701	NP_004692	O95067	CCNB2_HUMAN	cyclin B2	398					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding				0						GATAGGAAGGTCCTAGGCTGC	0.473													C	59417071	T	C	59417071	3	2	189	1	0	0	0	0	1	0	0	0	2913	1667	58	3	1226	3	CCNB2	15	59417071	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	93399	59417071	43114321	3677	101534											
FOXB1	27023	broad.mit.edu	37	chr15	60297214	60297214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagaagccgccctactcgTacatctcgctgaccgctatg	8	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:60297214T>C	uc002agj.1	+	2	531	c.52T>C	c.(52-54)TAC>CAC	p.Y18H	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	18	Fork-head.				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			ovary(1)|central_nervous_system(1)	2						GCCCTACTCGTACATCTCGCT	0.622													C	60297214	T	C	60297214	3	2	189	1	0	0	0	0	1	0	0	0	5992	1638	57	3	54	3	FOXB1	15	60297214	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	880143	60297214	42234178	3678	101535											
NARG2	79664	broad.mit.edu	37	chr15	60747243	60747243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacacactggaatttcccacTgttccttgtacgttggtcca	7	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:60747243T>C	uc002agp.2	-	8	1137	c.902A>G	c.(901-903)CAG>CGG	p.Q301R	NARG2_uc002ago.2_Missense_Mutation_p.Q164R|NARG2_uc002agq.3_5'Flank|NARG2_uc010bgk.2_Missense_Mutation_p.Q301R|NARG2_uc002agr.1_Missense_Mutation_p.Q301R	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	301						nucleus				ovary(1)|lung(1)	2						AATTTCCCACTGTTCCTTGTA	0.343													C	60747243	T	C	60747243	3	2	189	1	0	0	0	0	1	0	0	0	10169	1580	55	3	2082	3	NARG2	15	60747243	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	450029	60747243	41784149	3679	101536											
USP3	9960	broad.mit.edu	37	chr15	63845976	63845977	+	Frame_Shift_Del	DEL	AA	AA	-													actggtacagaaagtcagagAacacttacagaacttggaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:63845975_63845976GAA>G	uc002amf.3	+	3	475_476	c.346_347GAA>G	c.(346-348)gaafs	p.E116fs	USP3_uc010uii.1_Non-coding_Transcript|USP3_uc002amg.3_Frame_Shift_Del_p.E31fs|USP3_uc002amh.3_Frame_Shift_Del_p.E94fs|USP3_uc010uij.2_Frame_Shift_Del_p.E72fs|USP3_uc010uik.2_Intron|USP3_uc010bgs.3_Frame_Shift_Del_p.E99fs|USP3_uc002ami.3_5'UTR	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	Homo sapiens ubiquitin specific peptidase 3 (USP3), mRNA.	116					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)		GAAAGTCAGAGAACACTTACAG	0.386													-	63845977	AA	-	63845976	7	5	189	1	0	1	0	1	0	0	0	0	17057	246	9	0	361	0	USP3	15	63845976	Frame_Shift_Del	DEL	AA	TCGA-CG-5721-01A-11D-1600-08	3098733	63845976	38685416	3680	101537											
HERC1	8925	broad.mit.edu	37	chr15	63952040	63952040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggttctggtacaatgcGccggtcatttaaaccaagcg	10	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:63952040G>A	uc002amp.2	-	47	9467	c.9319C>T	c.(9319-9321)CGC>TGC	p.R3107C		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3107					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GGTACAATGCGCCGGTCATTT	0.468													A	63952040	G	A	63952040	3	1	189	1	0	0	0	0	1	0	0	0	7057	1087	38	1	5394	1	HERC1	15	63952040	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	106064	63952040	38579352	3681	101538											
HERC1	8925	broad.mit.edu	37	chr15	64048790	64048790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctttagaagatgaaAcctttttaatggatctgtga	8	6	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:64048790A>G	uc002amp.2	-	5	1527	c.1379T>C	c.(1378-1380)GTT>GCT	p.V460A	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.V460A	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	460	WD 1.|RCC1 2.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGAAGATGAAACCTTTTTAAT	0.443													G	64048790	A	G	64048790	3	3	189	1	0	0	0	0	1	0	0	0	7057	43	2	3	13502	3	HERC1	15	64048790	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	96750	64048790	38482602	3682	101539											
SNX1	6642	broad.mit.edu	37	chr15	64423957	64423957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaggacaacacggcaTtgtcacgggcactctcccag	11	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:64423957T>C	uc002amv.2	+	11	1123	c.1087T>C	c.(1087-1089)TTG>CTG	p.L363L	SNX1_uc010bgv.2_Silent_p.L77L|SNX1_uc010uio.1_Silent_p.L363L|SNX1_uc002amw.2_Silent_p.L363L|SNX1_uc002amx.2_Silent_p.L298L|SNX1_uc002amy.2_Silent_p.L292L|SNX1_uc010bgw.2_Silent_p.L265L	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	363	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						CAACACGGCATTGTCACGGGC	0.542													C	64423957	T	C	64423957	2	2	189	1	0	0	0	0	0	0	0	1	14880	1490	52	3		3	SNX1	15	64423957	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	375167	64423957	38107435	3683	101540											
ZNF609	23060	broad.mit.edu	37	chr15	64966838	64966838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagaaaaagttgagtggGgaaggggacacagaccttgg	16	4	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:64966838G>A	uc002ann.2	+	4	1785	c.1785G>A	c.(1783-1785)GGG>GGA	p.G595G		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	595						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AGTTGAGTGGGGAAGGGGACA	0.483													A	64966838	G	A	64966838	2	1	189	1	0	0	0	0	0	0	0	1	18032	1219	43	4		4	ZNF609	15	64966838	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	542881	64966838	37564554	3684	101541											
ZNF609	23060	broad.mit.edu	37	chr15	64972981	64972981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacctctccttcccagcGcctgatgtccacacaccacc	5	22	1	1	rs142970708		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:64972981G>A	uc002ann.2	+	7	4082	c.4082G>A	c.(4081-4083)CGC>CAC	p.R1361H		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1361						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCTTCCCAGCGCCTGATGTCC	0.617													A	64972981	G	A	64972981	3	1	189	1	0	0	0	0	1	0	0	0	18032	1087	38	1	4108	1	ZNF609	15	64972981	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6143	64972981	37558411	3685	101542											
DENND4A	10260	broad.mit.edu	37	chr15	65957726	65957726	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagggctgtcccggatcctgAtgtaacttcatattgtccca	9	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:65957726A>T	uc002aph.2	-	29	5562	c.5184T>A	c.(5182-5184)CAT>CAA	p.H1728Q	DENND4A_uc002api.2_Missense_Mutation_p.H1771Q	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CCGGATCCTGATGTAACTTCA	0.373													T	65957726	A	T	65957726	3	4	189	1	0	0	0	0	1	0	0	0	4433	330	12	5	423	5	DENND4A	15	65957726	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	984745	65957726	36573666	3686	101543											
DENND4A	10260	broad.mit.edu	37	chr15	65983159	65983159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaaggactgctcatgTtattcatatacatcacaatt	5	8	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:65983159T>C	uc002aph.2	-	22	4019	c.3641A>G	c.(3640-3642)AAC>AGC	p.N1214S	DENND4A_uc002api.2_Missense_Mutation_p.N1257S|DENND4A_uc002apj.3_Missense_Mutation_p.N1214S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						ACTGCTCATGTTATTCATATA	0.388													C	65983159	T	C	65983159	3	2	189	1	0	0	0	0	1	0	0	0	4433	1725	60	3	1994	3	DENND4A	15	65983159	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	25433	65983159	36548233	3687	101544											
RAB11A	8766	broad.mit.edu	37	chr15	66161946	66161946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccgcgacgacgagtAcgactacctctttaaaggtg	12	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:66161946A>G	uc002apk.2	+	1	151	c.23A>G	c.(22-24)TAC>TGC	p.Y8C	RAB11A_uc010ujk.1_Missense_Mutation_p.Y8C	NM_004663	NP_004654	P62491	RB11A_HUMAN	Ras-related protein Rab-11A	8					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding				0						GACGACGAGTACGACTACCTC	0.677													G	66161946	A	G	66161946	3	3	189	1	0	0	0	0	1	0	0	0	12891	391	14	3	25	3	RAB11A	15	66161946	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	178787	66161946	36369446	3688	101545											
DIS3L	115752	broad.mit.edu	37	chr15	66612927	66612927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttcagggtggtcgtgCgcatcgattcctgggagtca	15	9	2	0	rs150139050		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:66612927C>T	uc010ujm.1	+	9	1198	c.1183C>T	c.(1183-1185)CGC>TGC	p.R395C	DIS3L_uc010ujl.1_Missense_Mutation_p.R25C|DIS3L_uc002app.2_Missense_Mutation_p.R312C|DIS3L_uc002apq.2_Missense_Mutation_p.R395C|DIS3L_uc010bho.2_Missense_Mutation_p.R261C	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	395					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						GGTGGTCGTGCGCATCGATTC	0.453													T	66612927	C	T	66612927	3	4	189	1	0	0	0	0	1	0	0	0	4536	768	27	1	1217	1	DIS3L	15	66612927	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	450981	66612927	35918465	3689	101546											
PIAS1	8554	broad.mit.edu	37	chr15	68438968	68438968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgaccaattaatatcaCctcacttgtccgactgtcca	5	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:68438968C>T	uc002aqz.2	+	6	854	c.758C>T	c.(757-759)ACC>ATC	p.T253I	PIAS1_uc010ujx.1_Missense_Mutation_p.T253I	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	253	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						ATTAATATCACCTCACTTGTC	0.363													T	68438968	C	T	68438968	3	4	189	1	0	0	0	0	1	0	0	0	11875	507	18	4	780	4	PIAS1	15	68438968	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1826041	68438968	34092424	3690	101547											
CALML4	91860	broad.mit.edu	37	chr15	68489899	68489899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaatttctttctttggGtcttcttgttttatttgcat	7	5	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:68489899G>A	uc002arb.2	-	4	1106	c.372C>T	c.(370-372)GAC>GAT	p.D124D	CALML4_uc002arc.2_Silent_p.D77D|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_RNA|CALML4_uc010bhz.2_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	calmodulin-like 4 isoform 1	124	EF-hand 3.						calcium ion binding				0						CTTTCTTTGGGTCTTCTTGTT	0.473													A	68489899	G	A	68489899	2	1	189	1	0	0	0	0	0	0	0	1	2588	1252	44	4		4	CALML4	15	68489899	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	50931	68489899	34041493	3691	101548											
ITGA11	22801	broad.mit.edu	37	chr15	68624344	68624344	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaatggaggacccaaaTcgggcattctggtaactgtg	14	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:68624344T>G	uc002ari.2	-	14	1710	c.1623A>C	c.(1621-1623)CGA>CGC	p.R541R	ITGA11_uc010bib.2_Silent_p.R541R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	541	FG-GAP 6.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	AGGACCCAAATCGGGCATTCT	0.527													G	68624344	T	G	68624344	2	3	189	1	0	0	0	0	0	0	0	1	7874	1422	50	5		5	ITGA11	15	68624344	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	134445	68624344	33907048	3692	101549											
NOX5	79400	broad.mit.edu	37	chr15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-													ctcctcatcaagcggcccccTttttttcactatagacctgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				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	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|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						AAGCGGCCCCCTTTTTTTCAC	0.542													-	69331226	T	-	69331226	7	5	189	1	0	1	0	1	0	0	0	0	10559	1596	56	0	1468	0	NOX5	15	69331226	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	706882	69331226	33200166	3693	101550											
KIF23	9493	broad.mit.edu	37	chr15	69732777	69732777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagagaccctctcgggagcGagatcgagaaaaagttactc	12	9	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:69732777G>A	uc002asb.2	+	17	2135	c.2018G>A	c.(2017-2019)CGA>CAA	p.R673Q	KIF23_uc002asc.2_Missense_Mutation_p.R673Q|KIF23_uc010bii.2_Missense_Mutation_p.R563Q|KIF23_uc010ukc.1_Missense_Mutation_p.R490Q	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	673					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						TCTCGGGAGCGAGATCGAGAA	0.388													A	69732777	G	A	69732777	3	1	189	1	0	0	0	0	1	0	0	0	8291	1058	37	1	2084	1	KIF23	15	69732777	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	401551	69732777	32798615	3694	101551											
NR2E3	10002	broad.mit.edu	37	chr15	72105733	72105733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctgagcacaggtgaTcctgctggaagaggcgtgga	15	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:72105733T>C	uc002ati.2	+	6	942	c.752T>C	c.(751-753)ATC>ACC	p.I251T	NR2E3_uc002ath.1_Missense_Mutation_p.I251T	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	photoreceptor-specific nuclear receptor isoform	251					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0						GCACAGGTGATCCTGCTGGAA	0.602													C	72105733	T	C	72105733	3	2	189	1	0	0	0	0	1	0	0	0	10626	1435	50	3	774	3	NR2E3	15	72105733	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2372956	72105733	30425659	3695	101552											
ARIH1	25820	broad.mit.edu	37	chr15	72837173	72837173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaggtactttgatggAaacctggagaagctctttgc	11	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:72837173A>G	uc002aut.3	+	3	770	c.456A>G	c.(454-456)GGA>GGG	p.G152G		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	152					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding				0						ACTTTGATGGAAACCTGGAGA	0.413													G	72837173	A	G	72837173	2	3	189	1	0	0	0	0	0	0	0	1	923	233	9	3		3	ARIH1	15	72837173	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	731440	72837173	29694219	3696	101553											
CD276	80381	broad.mit.edu	37	chr15	73995290	73995290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcagatggccaacgagcAgggcttgtttgatgtgcaca	14	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:73995290A>G	uc002avv.1	+	4	830	c.596A>G	c.(595-597)CAG>CGG	p.Q199R	CD276_uc010bjd.1_Missense_Mutation_p.Q53R|CD276_uc002avu.1_Missense_Mutation_p.Q199R|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Missense_Mutation_p.Q145R|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	199	Extracellular (Potential).|Ig-like C2-type 1.				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			skin(1)	1						GCCAACGAGCAGGGCTTGTTT	0.632													G	73995290	A	G	73995290	3	3	189	1	0	0	0	0	1	0	0	0	2992	188	7	3	606	3	CD276	15	73995290	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1158117	73995290	28536102	3697	101554											
CCDC33	80125	broad.mit.edu	37	chr15	74536490	74536490	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggccctatgtggtggtGtaagtagctgcgtgagagtg	17	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:74536490G>T	uc002axo.2	+	2	579	c.185_splice	c.e2+1	p.V62_splice		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1								protein binding			ovary(3)|skin(2)	5						ATGTGGTGGTGTAAGTAGCTG	0.587													T	74536490	G	T	74536490	5	4	189	1	0	0	0	0	0	0	1	0	2806	1391	48	5	192	5	CCDC33	15	74536490	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	541200	74536490	27994902	3698	101555											
PPCDC	60490	broad.mit.edu	37	chr15	75336770	75336770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctgcacattgacctgcGgaggtgggcagacctcctgc	13	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:75336770G>A	uc002azo.2	+	4	388	c.275G>A	c.(274-276)CGG>CAG	p.R92Q		NM_021823	NP_068595	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	92					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity				0						ATTGACCTGCGGAGGTGGGCA	0.577													A	75336770	G	A	75336770	3	1	189	1	0	0	0	0	1	0	0	0	12304	1116	39	1	285	1	PPCDC	15	75336770	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	800280	75336770	27194622	3699	101556											
MAN2C1	4123	broad.mit.edu	37	chr15	75651057	75651057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctataccgtgtctccaggTggtagtccatgacgtcccat	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:75651057T>C	uc002baf.2	-	19	2251	c.2234A>G	c.(2233-2235)CAC>CGC	p.H745R	MAN2C1_uc002bag.2_Missense_Mutation_p.H745R|MAN2C1_uc002bah.2_Missense_Mutation_p.H762R|MAN2C1_uc010bkk.2_Missense_Mutation_p.H646R	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	745					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TGTCTCCAGGTGGTAGTCCAT	0.577													C	75651057	T	C	75651057	3	2	189	1	0	0	0	0	1	0	0	0	9218	1696	59	3	920	3	MAN2C1	15	75651057	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	314287	75651057	26880335	3700	101557											
SCAPER	49855	broad.mit.edu	37	chr15	77020934	77020934	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaagatagcaaatgagatAcctagctctttcccgggctg	9	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:77020934A>G	uc002bby.2	-	16	2224	c.2165_splice	c.e16+1	p.R722_splice	SCAPER_uc010bkr.2_Intron|SCAPER_uc002bbx.2_Splice_Site_p.R476_splice|SCAPER_uc002bbz.1_Splice_Site_p.R593_splice|SCAPER_uc002bca.1_Splice_Site_p.R587_splice|SCAPER_uc002bcb.1_Splice_Site_p.R728_splice	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER							endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						CAAATGAGATACCTAGCTCTT	0.373													G	77020934	A	G	77020934	5	3	189	1	0	0	0	0	0	0	1	0	13878	405	14	3	2099	3	SCAPER	15	77020934	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1369877	77020934	25510458	3701	101558											
SGK269	79834	broad.mit.edu	37	chr15	77472351	77472351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaaaacttttgtagaTagctagattgtcatatgcat	7	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:77472351T>C	uc002bcm.2	-	3	2226	c.1918A>G	c.(1918-1920)ATC>GTC	p.I640V	SGK269_uc002bcn.2_Missense_Mutation_p.I640V	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	640					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTTTTGTAGATAGCTAGATTG	0.358													C	77472351	T	C	77472351	3	2	189	1	0	0	0	0	1	0	0	0	14211	1406	49	3	3338	3	SGK269	15	77472351	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	451417	77472351	25059041	3702	101559											
SGK269	79834	broad.mit.edu	37	chr15	77474003	77474003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgttcttggatgctaAgctcaccacatatactttgc	7	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:77474003A>G	uc002bcm.2	-	3	574	c.266T>C	c.(265-267)CTT>CCT	p.L89P	SGK269_uc002bcn.2_Missense_Mutation_p.L89P	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	89					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TTGGATGCTAAGCTCACCACA	0.453													G	77474003	A	G	77474003	3	3	189	1	0	0	0	0	1	0	0	0	14211	72	3	3	4990	3	SGK269	15	77474003	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1652	77474003	25057389	3703	101560											
HMG20A	10363	broad.mit.edu	37	chr15	77750834	77750834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtaatgatctggctaccActgggtaagcagctgcttta	11	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:77750834A>G	uc002bcr.2	+	3	286	c.85A>G	c.(85-87)ACT>GCT	p.T29A	HMG20A_uc002bcq.1_Missense_Mutation_p.T29A|HMG20A_uc002bcs.2_Missense_Mutation_p.T29A	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	high-mobility group 20A	29					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TCTGGCTACCACTGGGTAAGC	0.448													G	77750834	A	G	77750834	3	3	189	1	0	0	0	0	1	0	0	0	7221	159	6	3	87	3	HMG20A	15	77750834	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	276831	77750834	24780558	3704	101561											
IDH3A	3419	broad.mit.edu	37	chr15	78452550	78452550	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacaagatgggcttgaaaggTagcactgaagtagagacggg	15	5	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:78452550T>A	uc002bdd.2	+	4	316	c.289_splice	c.e4+2	p.G97_splice	IDH3A_uc010umt.1_Splice_Site_p.G97_splice|IDH3A_uc010umu.1_Intron|IDH3A_uc002bde.2_Splice_Site_p.G47_splice|IDH3A_uc010umv.1_Splice_Site_p.G47_splice|IDH3A_uc002bdf.2_Splice_Site|IDH3A_uc002bdg.2_Splice_Site_p.G10_splice	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha						carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	GCTTGAAAGGTAGCACTGAAG	0.453													A	78452550	T	A	78452550	5	1	189	1	0	0	0	0	0	0	1	0	7496	1652	57	5	305	5	IDH3A	15	78452550	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	701716	78452550	24078842	3705	101562											
IREB2	3658	broad.mit.edu	37	chr15	78732202	78732202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagaagttcttcgatgtaTctaaacttggcaccaagtat	7	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:78732202T>C	uc002bdr.2	+	2	247	c.85T>C	c.(85-87)TCT>CCT	p.S29P	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.S29P	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	29							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTCGATGTATCTAAACTTGG	0.318													C	78732202	T	C	78732202	3	2	189	1	0	0	0	0	1	0	0	0	7826	1435	50	3	91	3	IREB2	15	78732202	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	279652	78732202	23799190	3706	101563											
RASGRF1	5923	broad.mit.edu	37	chr15	79304850	79304850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcatttctgcttcccTggtcccctccctggtcctcc	6	20	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:79304850T>C	uc002beq.2	-	14	2221	c.1846A>G	c.(1846-1848)AGG>GGG	p.R616G	RASGRF1_uc002bep.2_Intron|RASGRF1_uc010blm.1_Intron|RASGRF1_uc002ber.3_Intron|RASGRF1_uc010unh.1_Intron	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	616					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			skin(4)|ovary(1)|central_nervous_system(1)	6						tctgcttccctggtcccCTCC	0.204													C	79304850	T	C	79304850	3	2	189	1	0	0	0	0	1	0	0	0	13072	1579	55	3	2035	3	RASGRF1	15	79304850	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	572648	79304850	23226542	3707	101564											
RASGRF1	5923	broad.mit.edu	37	chr15	79339164	79339164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccatccgcagcgggcGcaggaaattgttgacaagga	16	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:79339164G>A	uc002beq.2	-	5	1177	c.802C>T	c.(802-804)CGC>TGC	p.R268C	RASGRF1_uc002bep.2_Missense_Mutation_p.R268C|RASGRF1_uc010blm.1_Missense_Mutation_p.R190C|RASGRF1_uc002ber.3_Missense_Mutation_p.R268C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	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			skin(4)|ovary(1)|central_nervous_system(1)	6						CGCAGCGGGCGCAGGAAATTG	0.587													A	79339164	G	A	79339164	3	1	189	1	0	0	0	0	1	0	0	0	13072	1087	38	1	3115	1	RASGRF1	15	79339164	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	34314	79339164	23192228	3708	101565											
KIAA1024	23251	broad.mit.edu	37	chr15	79748861	79748861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgaatcatgtaggtcGgacacagagatctgcaatgc	10	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:79748861G>A	uc002bew.1	+	2	447	c.372G>A	c.(370-372)TCG>TCA	p.S124S	KIAA1024_uc010unk.1_Silent_p.S124S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	124						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CATGTAGGTCGGACACAGAGA	0.567													A	79748861	G	A	79748861	2	1	189	1	0	0	0	0	0	0	0	1	8205	1103	39	1		1	KIAA1024	15	79748861	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	409697	79748861	22782531	3709	101566											
KIAA1024	23251	broad.mit.edu	37	chr15	79749423	79749423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgccctataacagccagTacctgaatccagtgtattcc	6	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:79749423T>C	uc002bew.1	+	2	1009	c.934T>C	c.(934-936)TAC>CAC	p.Y312H	KIAA1024_uc010unk.1_Missense_Mutation_p.Y312H	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	312						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						TAACAGCCAGTACCTGAATCC	0.507													C	79749423	T	C	79749423	3	2	189	1	0	0	0	0	1	0	0	0	8205	1638	57	3	936	3	KIAA1024	15	79749423	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	562	79749423	22781969	3710	101567											
ZFAND6	54469	broad.mit.edu	37	chr15	80429859	80429859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtttactgtggtgtAcaccgttactcagatgtaca	10	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:80429859A>G	uc002bfe.1	+	7	827	c.516A>G	c.(514-516)GTA>GTG	p.V172V	ZFAND6_uc002bff.1_Silent_p.V172V|ZFAND6_uc002bfg.1_Silent_p.V160V|ZFAND6_uc002bfh.1_Silent_p.V172V|ZFAND6_uc002bfi.1_Silent_p.V172V	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	172	AN1-type.						DNA binding|zinc ion binding				0						ACTGTGGTGTACACCGTTACT	0.383													G	80429859	A	G	80429859	2	3	189	1	0	0	0	0	0	0	0	1	17628	378	14	3		3	ZFAND6	15	80429859	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	680436	80429859	22101533	3711	101568											
AP3B2	8120	broad.mit.edu	37	chr15	83328679	83328679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccacaatgtggtcactccGacaggtgtctggcagcatga	11	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:83328679G>A	uc010uoh.1	-	25	3193	c.3016C>T	c.(3016-3018)CGG>TGG	p.R1006W	AP3B2_uc010uoi.1_Missense_Mutation_p.R1025W|AP3B2_uc010uoj.1_Missense_Mutation_p.R974W|AP3B2_uc010bmp.2_Missense_Mutation_p.R69W|AP3B2_uc010uog.1_Missense_Mutation_p.R642W	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	1006					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGTCACTCCGACAGGTGTCT	0.547													A	83328679	G	A	83328679	3	1	189	1	0	0	0	0	1	0	0	0	745	1057	37	1	240	1	AP3B2	15	83328679	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2898820	83328679	19202713	3712	101569											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84566740	84566740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgtcattcccatccCgtgttataaaccaaaaggta	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:84566740C>A	uc002bjz.3	+	14	1822	c.1598C>A	c.(1597-1599)CCG>CAG	p.P533Q	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P533Q|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.P533Q	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	533	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTCCCATCCCGTGTTATAAA	0.423													A	84566740	C	A	84566740	3	1	189	1	0	0	0	0	1	0	0	0	276	652	23	5	1648	5	ADAMTSL3	15	84566740	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1238061	84566740	17964652	3713	101570											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164847	85164847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaggggagaaaccctAcgagtgcctgacatgtgggg	15	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:85164847A>G	uc002bkr.2	+	3	1647	c.1421A>G	c.(1420-1422)TAC>TGC	p.Y474C	ZSCAN2_uc010bmz.1_Missense_Mutation_p.Y472C|ZSCAN2_uc010bna.2_Missense_Mutation_p.Y324C|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	474	C2H2-type 10.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGAAACCCTACGAGTGCCTG	0.562													G	85164847	A	G	85164847	3	3	189	1	0	0	0	0	1	0	0	0	18228	391	14	3	1517	3	ZSCAN2	15	85164847	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	598107	85164847	17366545	3714	101571											
ALPK3	57538	broad.mit.edu	37	chr15	85411579	85411579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggcacccggaagagTgctccaagttccaaggccac	11	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:85411579T>C	uc002ble.2	+	14	5783	c.5616T>C	c.(5614-5616)AGT>AGC	p.S1872S	ALPK3_uc010upc.1_Silent_p.S173S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1872					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCGGAAGAGTGCTCCAAGTT	0.617													C	85411579	T	C	85411579	2	2	189	1	0	0	0	0	0	0	0	1	546	1693	59	3		3	ALPK3	15	85411579	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	246732	85411579	17119813	3715	101572											
PDE8A	5151	broad.mit.edu	37	chr15	85664157	85664157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccattttgtacaatgacActgctgtgctggagagccac	11	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:85664157A>G	uc002blh.2	+	18	2053	c.1864A>G	c.(1864-1866)ACT>GCT	p.T622A	PDE8A_uc002bli.2_Missense_Mutation_p.T576A|PDE8A_uc010bnc.2_Missense_Mutation_p.T375A|PDE8A_uc010bnd.2_Missense_Mutation_p.T375A|PDE8A_uc002blj.2_Missense_Mutation_p.T242A|PDE8A_uc002blk.2_Missense_Mutation_p.T242A|PDE8A_uc002bll.2_5'UTR	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	622	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			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GTACAATGACACTGCTGTGCT	0.483													G	85664157	A	G	85664157	3	3	189	1	0	0	0	0	1	0	0	0	11653	159	6	3	1934	3	PDE8A	15	85664157	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	252578	85664157	16867235	3716	101573											
AKAP13	11214	broad.mit.edu	37	chr15	86064750	86064750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttgggttccaccctccGtcactgtacaagtactcgga	8	12	1	0	rs142964345	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:86064750G>A	uc002blv.1	+	3	295	c.125G>A	c.(124-126)CGT>CAT	p.R42H	AKAP13_uc002bls.2_Missense_Mutation_p.R42H|AKAP13_uc002blt.1_Missense_Mutation_p.R42H|AKAP13_uc002blu.1_Missense_Mutation_p.R42H	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	42					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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TCCACCCTCCGTCACTGTACA	0.428													A	86064750	G	A	86064750	3	1	189	1	0	0	0	0	1	0	0	0	449	1145	40	1	131	1	AKAP13	15	86064750	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	400593	86064750	16466642	3717	101574											
AKAP13	11214	broad.mit.edu	37	chr15	86278223	86278223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtttcctttattccagTggagatccttcagggtttgg	11	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:86278223T>C	uc002blv.1	+	31	7453	c.7283T>C	c.(7282-7284)GTG>GCG	p.V2428A	AKAP13_uc002blu.1_Missense_Mutation_p.V2432A|AKAP13_uc002blw.1_Missense_Mutation_p.V893A|AKAP13_uc002blx.1_Missense_Mutation_p.V673A	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2428	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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TTTATTCCAGTGGAGATCCTT	0.468													C	86278223	T	C	86278223	3	2	189	1	0	0	0	0	1	0	0	0	449	1710	59	3	7471	3	AKAP13	15	86278223	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	213473	86278223	16253169	3718	101575											
AKAP13	11214	broad.mit.edu	37	chr15	86284281	86284281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgcctcccagggtgTggtgctgcagcaggacagct	15	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:86284281T>C	uc002blv.1	+	35	7783	c.7613T>C	c.(7612-7614)GTG>GCG	p.V2538A	AKAP13_uc002blu.1_Missense_Mutation_p.V2542A|AKAP13_uc002blw.1_Missense_Mutation_p.V1003A|AKAP13_uc002blx.1_Missense_Mutation_p.V783A	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2538	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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TCCCAGGGTGTGGTGCTGCAG	0.647													C	86284281	T	C	86284281	3	2	189	1	0	0	0	0	1	0	0	0	449	1696	59	3	7817	3	AKAP13	15	86284281	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6058	86284281	16247111	3719	101576											
HAPLN3	145864	broad.mit.edu	37	chr15	89421322	89421322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaccacagggtagcggAcgctaccatctgccagccag	13	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:89421322A>G	uc002bnc.2	-	5	1090	c.962T>C	c.(961-963)GTC>GCC	p.V321A	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.V383A	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	321	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGGGTAGCGGACGCTACCATC	0.637													G	89421322	A	G	89421322	3	3	189	1	0	0	0	0	1	0	0	0	6956	275	10	3	124	3	HAPLN3	15	89421322	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3137041	89421322	13110070	3720	101577											
ABHD2	11057	broad.mit.edu	37	chr15	89694928	89694928	+	Frame_Shift_Del	DEL	G	G	-													atacattccaccgttgatctGggggaaaagtggacacatcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:89694927_89694927TG>T	uc002bnj.2	+	7	1132	c.214_214TG>T	c.(214-216)tggfs	p.W72fs	ABHD2_uc002bnk.2_Frame_Shift_Del_p.W72fs	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	72						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)					ACCGTTGATCTGGGGGAAAAG	0.448													-	89694928	G	-	89694928	7	5	189	1	0	1	0	1	0	0	0	0	82	1357	47	0	221	0	ABHD2	15	89694928	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	273606	89694928	12836464	3721	101578											
RHCG	51458	broad.mit.edu	37	chr15	90021067	90021067	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgcctggggcacttaCggtcaggtatacaaaaccca	9	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90021067C>T	uc002bnz.2	-	6	999	c.975_splice	c.e6+1	p.T325_splice	RHCG_uc002bny.2_Splice_Site_p.T96_splice|RHCG_uc002boa.2_Splice_Site|RHCG_uc010bnq.1_Missense_Mutation_p.V210I	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein						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			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GGGGCACTTACGGTCAGGTAT	0.587													T	90021067	C	T	90021067	5	4	189	1	0	0	0	0	0	0	1	0	13326	550	19	1	483	1	RHCG	15	90021067	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	326139	90021067	12510325	3722	101579											
RHCG	51458	broad.mit.edu	37	chr15	90026320	90026320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaggttaaggagaatgAactcattcacagcgaagagg	12	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90026320A>G	uc002bnz.2	-	3	524	c.500T>C	c.(499-501)TTC>TCC	p.F167S	RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Missense_Mutation_p.F51S	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	167	Helical; (Potential).				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			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AAGGAGAATGAACTCATTCAC	0.532													G	90026320	A	G	90026320	3	3	189	1	0	0	0	0	1	0	0	0	13326	246	9	3	971	3	RHCG	15	90026320	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5253	90026320	12505072	3723	101580											
C15orf42	90381	broad.mit.edu	37	chr15	90167812	90167812	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagactctagagatgaccAgaagggactgagcctctctc	10	12	2	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90167812A>G	uc002boe.2	+	20	4271	c.4271A>G	c.(4270-4272)CAG>CGG	p.Q1424R	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1424					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGAGATGACCAGAAGGGACTG	0.597													G	90167812	A	G	90167812	3	3	189	1	0	0	0	0	1	0	0	0	1796	188	7	3	4349	3	C15orf42	15	90167812	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	141492	90167812	12363580	3724	101581											
KIF7	374654	broad.mit.edu	37	chr15	90171867	90171867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccaggtcaagggtaacGgagcgtggaccaagtcccgc	14	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90171867G>A	uc002bof.2	-	19	3892	c.3815C>T	c.(3814-3816)CCG>CTG	p.P1272L	KIF7_uc010upw.1_Missense_Mutation_p.P758L|C15orf42_uc010upv.1_Intron	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1272					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAAGGGTAACGGAGCGTGGAC	0.697													A	90171867	G	A	90171867	3	1	189	1	0	0	0	0	1	0	0	0	8309	1116	39	1	220	1	KIF7	15	90171867	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4055	90171867	12359525	3725	101582											
ANPEP	290	broad.mit.edu	37	chr15	90346959	90346959	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtgtggacagcgggtgGgaggaggccagtgcatccac	20	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90346959G>T	uc002bop.3	-	8	1648	c.1356C>A	c.(1354-1356)TCC>TCA	p.S452S		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	452	Extracellular.|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			ovary(3)|skin(1)	4	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)	ACAGCGGGTGGGAGGAGGCCA	0.607													T	90346959	G	T	90346959	2	4	189	1	0	0	0	0	0	0	0	1	710	1219	43	5		5	ANPEP	15	90346959	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	175092	90346959	12184433	3726	101583											
SEMA4B	10509	broad.mit.edu	37	chr15	90766816	90766816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtggagagcgggtgcTacagcagcgctggacctcct	17	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90766816T>C	uc002boy.2	+	9	1170	c.887T>C	c.(886-888)CTA>CCA	p.L296P	SEMA4B_uc002boz.2_Missense_Mutation_p.L296P|SEMA4B_uc010uqd.1_Missense_Mutation_p.L134P|SEMA4B_uc002bpa.2_Missense_Mutation_p.L134P|SEMA4B_uc010bnv.1_5'UTR	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	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)			GAGCGGGTGCTACAGCAGCGC	0.642													C	90766816	T	C	90766816	3	2	189	1	0	0	0	0	1	0	0	0	14032	1522	53	3	917	3	SEMA4B	15	90766816	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	419857	90766816	11764576	3727	101584											
NGRN	51335	broad.mit.edu	37	chr15	90808954	90808954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgtcgacatggcggttAccctgagtctcttgctgggc	13	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90808954A>G	uc002bpf.1	+	1	60	c.10A>G	c.(10-12)ACC>GCC	p.T4A	TTLL13_uc002bpe.1_Intron|NGRN_uc002bpg.1_5'UTR	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	neugrin	4					neuron differentiation	extracellular region|nucleus				large_intestine(2)|ovary(1)	3	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)			CATGGCGGTTACCCTGAGTCT	0.687													G	90808954	A	G	90808954	3	3	189	1	0	0	0	0	1	0	0	0	10399	391	14	3	12	3	NGRN	15	90808954	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	42138	90808954	11722438	3728	101585											
IQGAP1	8826	broad.mit.edu	37	chr15	90972889	90972889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgccatggatgagattggAttgcctaaggtaacttacct	10	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90972889A>G	uc002bpl.1	+	4	482	c.381A>G	c.(379-381)GGA>GGG	p.G127G		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	127	CH.				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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			ATGAGATTGGATTGCCTAAGG	0.378													G	90972889	A	G	90972889	2	3	189	1	0	0	0	0	0	0	0	1	7814	320	12	3		3	IQGAP1	15	90972889	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	163935	90972889	11558503	3729	101586											
IQGAP1	8826	broad.mit.edu	37	chr15	90984789	90984789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgaccgtagaattccagCcgacacatttgcagctttga	8	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:90984789C>T	uc002bpl.1	+	8	802	c.701C>T	c.(700-702)GCC>GTC	p.A234V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	234					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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			AGAATTCCAGCCGACACATTT	0.368													T	90984789	C	T	90984789	3	4	189	1	0	0	0	0	1	0	0	0	7814	739	26	2	731	2	IQGAP1	15	90984789	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	11900	90984789	11546603	3730	101587											
FES	2242	broad.mit.edu	37	chr15	91435964	91435964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgaagtgttcagcggaCgcctgcgagccgacaacacc	13	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:91435964C>T	uc002bpv.2	+	14	1831	c.1735C>T	c.(1735-1737)CGC>TGC	p.R579C	FES_uc010uqj.1_Missense_Mutation_p.R451C|FES_uc010uqk.1_Missense_Mutation_p.R561C|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.R451C|FES_uc002bpx.2_Missense_Mutation_p.R509C|FES_uc002bpy.2_Missense_Mutation_p.R521C	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	579	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCAGCGGACGCCTGCGAGC	0.592													T	91435964	C	T	91435964	3	4	189	1	0	0	0	0	1	0	0	0	5820	536	19	1	1785	1	FES	15	91435964	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	451175	91435964	11095428	3731	101588											
FES	2242	broad.mit.edu	37	chr15	91437188	91437188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctactcctccgaaagcgaCgtgtggagctttggcatctt	11	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:91437188C>T	uc002bpv.2	+	18	2322	c.2226C>T	c.(2224-2226)GAC>GAT	p.D742D	FES_uc010uqj.1_Silent_p.D614D|FES_uc010uqk.1_Silent_p.D724D|FES_uc002bpw.2_Intron|FES_uc010bny.2_Silent_p.D601D|FES_uc002bpx.2_Silent_p.D672D|FES_uc002bpy.2_Silent_p.D684D	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	742	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCGAAAGCGACGTGTGGAGCT	0.652													T	91437188	C	T	91437188	2	4	189	1	0	0	0	0	0	0	0	1	5820	535	19	1		1	FES	15	91437188	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1224	91437188	11094204	3732	101589											
MAN2A2	4122	broad.mit.edu	37	chr15	91449168	91449168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggacccccggcggcGcttcctctgggcagaggtct	16	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:91449168G>A	uc010bnz.2	+	5	744	c.629G>A	c.(628-630)CGC>CAC	p.R210H	MAN2A2_uc010boa.2_Missense_Mutation_p.R252H|MAN2A2_uc002bqc.2_Missense_Mutation_p.R210H|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	210	Lumenal (Potential).				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			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCCGGCGGCGCTTCCTCTGG	0.572													A	91449168	G	A	91449168	3	1	189	1	0	0	0	0	1	0	0	0	9215	1087	38	1	643	1	MAN2A2	15	91449168	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	11980	91449168	11082224	3733	101590											
UNC45A	55898	broad.mit.edu	37	chr15	91493834	91493834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaacctggctgggatcagCgagaggctccggtaaggtcc	14	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:91493834C>T	uc002bqg.2	+	17	2632	c.2292C>T	c.(2290-2292)AGC>AGT	p.S764S	UNC45A_uc002bqd.2_Silent_p.S749S|UNC45A_uc010uqr.1_Silent_p.S156S|UNC45A_uc002bqi.2_Silent_p.S42S	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	764					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTGGGATCAGCGAGAGGCTCC	0.592													T	91493834	C	T	91493834	2	4	189	1	0	0	0	0	0	0	0	1	16985	767	27	1		1	UNC45A	15	91493834	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	44666	91493834	11037558	3734	101591											
NR2F2	7026	broad.mit.edu	37	chr15	96877521	96877521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaactggccgcgaggatgcTcttcagcgccgtcgagtggg	16	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:96877521T>C	uc010uri.1	+	2	1883	c.659T>C	c.(658-660)CTC>CCC	p.L220P	NR2F2_uc002btp.2_Missense_Mutation_p.L87P|NR2F2_uc010urj.1_Missense_Mutation_p.L67P|NR2F2_uc010urk.1_Missense_Mutation_p.L67P	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	220	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			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCGAGGATGCTCTTCAGCGCC	0.627													C	96877521	T	C	96877521	3	2	189	1	0	0	0	0	1	0	0	0	10628	1551	54	3	712	3	NR2F2	15	96877521	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5383687	96877521	5653871	3735	101592											
FAM169B	283777	broad.mit.edu	37	chr15	99029181	99029181	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttccgtggagcaccaGgattcctttatgtaaacagc	9	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:99029181G>T	uc002buk.1	-	3	196	c.-54C>A	c.(-56--52)TCCTG>TCATG			NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777												0						TGGAGCACCAGGATTCCTTTA	0.458													T	99029181	G	T	99029181	1	4	189	1	0	0	0	0	0	0	0	0	5488	1015	35	5		5	FAM169B	15	99029181	Translation_Start_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2151660	99029181	3502211	3736	101593											
ADAMTS17	170691	broad.mit.edu	37	chr15	100589167	100589167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggtcttgttgacaatcCgtgtacacgagacgatggtt	12	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:100589167C>T	uc002bvv.1	-	18	2565	c.2486G>A	c.(2485-2487)CGG>CAG	p.R829Q		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GTTGACAATCCGTGTACACGA	0.597													T	100589167	C	T	100589167	3	4	189	1	0	0	0	0	1	0	0	0	262	652	23	1	821	1	ADAMTS17	15	100589167	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1559986	100589167	1942225	3737	101594											
LRRK1	79705	broad.mit.edu	37	chr15	101606897	101606897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggattctggcgcccagCggggccgagtcattgccgtc	15	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:101606897C>T	uc002bwr.2	+	33	6140	c.5821C>T	c.(5821-5823)CGG>TGG	p.R1941W	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1941					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			TGGCGCCCAGCGGGGCCGAGT	0.582													T	101606897	C	T	101606897	3	4	189	1	0	0	0	0	1	0	0	0	9032	759	27	1	5947	1	LRRK1	15	101606897	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1017730	101606897	924495	3738	101595											
PCSK6	5046	broad.mit.edu	37	chr15	101924598	101924598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgggatgtcttcactagcAggtgctggacgtccctccag	13	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:101924598A>C	uc002bwy.2	-	11	1657	c.1343T>G	c.(1342-1344)CTG>CGG	p.L448R	PCSK6_uc010bpd.2_Intron|PCSK6_uc010bpe.2_Missense_Mutation_p.L448R|PCSK6_uc002bxa.2_Missense_Mutation_p.L448R|PCSK6_uc002bxb.2_Missense_Mutation_p.L448R|PCSK6_uc002bxc.1_Missense_Mutation_p.L448R|PCSK6_uc002bxd.1_Missense_Mutation_p.L448R|PCSK6_uc002bxe.2_Missense_Mutation_p.L448R|PCSK6_uc002bxg.1_Missense_Mutation_p.L448R|PCSK6_uc002bxf.1_5'Flank	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	448	Catalytic.				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			pancreas(2)	2	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)			CTTCACTAGCAGGTGCTGGAC	0.592													C	101924598	A	C	101924598	3	2	189	1	0	0	0	0	1	0	0	0	11604	188	7	5	2097	5	PCSK6	15	101924598	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	317701	101924598	606794	3739	101596											
PCSK6	5046	broad.mit.edu	37	chr15	101933449	101933449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaggccccactgctgtAggtggtggccagggtggagg	17	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:101933449A>G	uc002bwy.2	-	9	1491	c.1177T>C	c.(1177-1179)TAC>CAC	p.Y393H	PCSK6_uc010bpd.2_Missense_Mutation_p.Y263H|PCSK6_uc010bpe.2_Missense_Mutation_p.Y393H|PCSK6_uc002bxa.2_Missense_Mutation_p.Y393H|PCSK6_uc002bxb.2_Missense_Mutation_p.Y393H|PCSK6_uc002bxc.1_Missense_Mutation_p.Y393H|PCSK6_uc002bxd.1_Missense_Mutation_p.Y393H|PCSK6_uc002bxe.2_Missense_Mutation_p.Y393H|PCSK6_uc002bxg.1_Missense_Mutation_p.Y393H	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	393	Catalytic.				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			pancreas(2)	2	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)			CCACTGCTGTAGGTGGTGGCC	0.537													G	101933449	A	G	101933449	3	3	189	1	0	0	0	0	1	0	0	0	11604	420	15	3	2271	3	PCSK6	15	101933449	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8851	101933449	597943	3740	101597											
TARSL2	123283	broad.mit.edu	37	chr15	102197159	102197159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgagccagctgtgcattTcgtattttcttatttagtgt	8	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:102197159T>C	uc002bxm.2	-	18	2281	c.2226A>G	c.(2224-2226)CGA>CGG	p.R742R	TARSL2_uc002bxl.2_3'UTR|TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	742					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	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)			GCTGTGCATTTCGTATTTTCT	0.318													C	102197159	T	C	102197159	2	2	189	1	0	0	0	0	0	0	0	1	15558	1770	62	3		3	TARSL2	15	102197159	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	263710	102197159	334233	3741	101598											
OR4F6	390648	broad.mit.edu	37	chr15	102346378	102346378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttcctggattataggTattattcactcagtgattca	7	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr15:102346378T>C	uc010utr.1	+	1	456	c.456T>C	c.(454-456)GGT>GGC	p.G152G		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GGATTATAGGTATTATTCACT	0.393													C	102346378	T	C	102346378	2	2	189	1	0	0	0	0	0	0	0	1	11066	1625	57	3		3	OR4F6	15	102346378	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	149219	102346378	185014	3742	101599											
RHBDF1	64285	broad.mit.edu	37	chr16	108423	108423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaactcacaccactcacaGcggacaggatagacgtagaa	10	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:108423G>A	uc002cfl.3	-	21	2632	c.2484C>T	c.(2482-2484)CGC>CGT	p.R828R		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	828	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2		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)				ACCACTCACAGCGGACAGGAT	0.577													A	108423	G	A	108423	2	1	189	1	0	0	0	0	0	0	0	1	13319	958	34	2		2	RHBDF1	16	108423	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08		108423	90246330	3743	101600											
AXIN1	8312	broad.mit.edu	37	chr16	364605	364605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctctgctgctcgctgtcGttggcactggtggctggggc	17	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:364605G>A	uc002cgp.1	-	3	1134	c.957C>T	c.(955-957)AAC>AAT	p.N319N	AXIN1_uc002cgq.1_Silent_p.N319N	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	319	Interaction with TP53 (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			breast(1)|liver(1)	2		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)				GCTCGCTGTCGTTGGCACTGG	0.627													A	364605	G	A	364605	2	1	189	1	0	0	0	0	0	0	0	1	1236	1136	40	1		1	AXIN1	16	364605	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	256182	364605	89990148	3744	101601											
RAB11FIP3	9727	broad.mit.edu	37	chr16	511444	511444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggatcccagtgggctcgGcgtgatcagctttgaagact	13	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:511444G>A	uc002chf.2	+	2	1094	c.755G>A	c.(754-756)GGC>GAC	p.G252D		NM_014700	NP_055515	O75154	RFIP3_HUMAN	rab11-family interacting protein 3 isoform 1	252	EF-hand 2.|2 (Potential).				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				0		Hepatocellular(16;0.0218)				AGTGGGCTCGGCGTGATCAGC	0.473													A	511444	G	A	511444	3	1	189	1	0	0	0	0	1	0	0	0	12895	1203	42	2	761	2	RAB11FIP3	16	511444	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	146839	511444	89843309	3745	101602											
WDR90	197335	broad.mit.edu	37	chr16	701657	701657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctagtcctcctggggccGgggccacagcctctcccttg	12	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:701657G>A	uc002cii.1	+	8	804	c.750G>A	c.(748-750)CCG>CCA	p.P250P	WDR90_uc002cig.1_Silent_p.P250P|WDR90_uc002cih.1_Silent_p.P250P|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	250										ovary(1)	1		Hepatocellular(780;0.0218)				TCCTGGGGCCGGGGCCACAGC	0.662													A	701657	G	A	701657	2	1	189	1	0	0	0	0	0	0	0	1	17334	1103	39	1		1	WDR90	16	701657	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	190213	701657	89653096	3746	101603											
MSLNL	401827	broad.mit.edu	37	chr16	825480	825480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaggccgcaccgtgaCgccaggttggccaagcagct	14	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:825480C>T	uc002cjz.1	-	5	1281	c.1281G>A	c.(1279-1281)GCG>GCA	p.A427A		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CGCACCGTGACGCCAGGTTGG	0.697													T	825480	C	T	825480	2	4	189	1	0	0	0	0	0	0	0	1	9882	523	19	1		1	MSLNL	16	825480	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	123823	825480	89529273	3747	101604											
CACNA1H	8912	broad.mit.edu	37	chr16	1262117	1262117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggagaagcggctgcggCgcctagagaggaggcgcagg	21	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1262117C>T	uc002cks.2	+	25	4986	c.4738C>T	c.(4738-4740)CGC>TGC	p.R1580C	CACNA1H_uc002ckt.2_Missense_Mutation_p.R1580C|CACNA1H_uc002cku.2_Missense_Mutation_p.R286C|CACNA1H_uc010brj.2_Missense_Mutation_p.R286C|CACNA1H_uc002ckv.2_Missense_Mutation_p.R286C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1580	Cytoplasmic (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCTGCGGCGCCTAGAGAG	0.711													T	1262117	C	T	1262117	3	4	189	1	0	0	0	0	1	0	0	0	2545	768	27	1	4832	1	CACNA1H	16	1262117	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	436637	1262117	89092636	3748	101605											
TPSG1	25823	broad.mit.edu	37	chr16	1272025	1272025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcggccgcagccctcAccccagctcacagtgccagc	12	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1272025A>G	uc002ckw.2	-	6	731	c.729T>C	c.(727-729)GGT>GGC	p.G243G		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein	243	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				CGCAGCCCTCACCCCAGCTCA	0.662													G	1272025	A	G	1272025	2	3	189	1	0	0	0	0	0	0	0	1	16423	146	6	3		3	TPSG1	16	1272025	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9908	1272025	89082728	3749	101606											
BAIAP3	8938	broad.mit.edu	37	chr16	1394813	1394813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatcctcaatgtggAcgtcttcaccctgaccttcc	7	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1394813A>G	uc002clk.1	+	20	1877	c.1877A>G	c.(1876-1878)GAC>GGC	p.D626G	BAIAP3_uc002clj.2_Missense_Mutation_p.D608G|BAIAP3_uc010uuz.1_Missense_Mutation_p.D591G|BAIAP3_uc010uva.1_Missense_Mutation_p.D563G|BAIAP3_uc010uvc.1_Missense_Mutation_p.D555G	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	626					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CTCAATGTGGACGTCTTCACC	0.662													G	1394813	A	G	1394813	3	3	189	1	0	0	0	0	1	0	0	0	1304	275	10	3	1955	3	BAIAP3	16	1394813	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	122788	1394813	88959940	3750	101607											
IFT140	9742	broad.mit.edu	37	chr16	1652558	1652558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggaagcaacccggaacGgcctctcgacgtgtgtatct	12	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1652558G>A	uc002cmb.2	-	4	544	c.182C>T	c.(181-183)CCG>CTG	p.P61L		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	61	WD 2.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				AACCCGGAACGGCCTCTCGAC	0.572													A	1652558	G	A	1652558	3	1	189	1	0	0	0	0	1	0	0	0	7556	1116	39	1	4318	1	IFT140	16	1652558	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	257745	1652558	88702195	3751	101608											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1797135	1797135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctccgtgccctcggccGccgtcacacccctcaacgag	8	21	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1797135G>A	uc002cmk.2	+	6	970	c.850G>A	c.(850-852)GCC>ACC	p.A284T	MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.A284T|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.A285T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	284					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GCCCTCGGCCGCCGTCACACC	0.662													A	1797135	G	A	1797135	3	1	189	1	0	0	0	0	1	0	0	0	9286	1087	38	1	872	1	MAPK8IP3	16	1797135	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	144577	1797135	88557618	3752	101609											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1812944	1812944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgccggcttcagccagcGccgcaaccatgccatgtgcc	10	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1812944G>A	uc002cmk.2	+	16	1952	c.1832G>A	c.(1831-1833)CGC>CAC	p.R611H	MAPK8IP3_uc002cml.2_Missense_Mutation_p.R605H|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R612H	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	611					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						TTCAGCCAGCGCCGCAACCAT	0.652													A	1812944	G	A	1812944	3	1	189	1	0	0	0	0	1	0	0	0	9286	1087	38	1	1910	1	MAPK8IP3	16	1812944	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	15809	1812944	88541809	3753	101610											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1818228	1818228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcccccacctctggggaGggcgcccgtcccgggggcat	14	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1818228G>T	uc002cmk.2	+	30	3708	c.3588G>T	c.(3586-3588)GAG>GAT	p.E1196D	MAPK8IP3_uc002cml.2_Missense_Mutation_p.E1190D|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E1197D	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1196					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CCTCTGGGGAGGGCGCCCGTC	0.662													T	1818228	G	T	1818228	3	4	189	1	0	0	0	0	1	0	0	0	9286	991	35	5	3722	5	MAPK8IP3	16	1818228	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5284	1818228	88536525	3754	101611											
NUBP2	10101	broad.mit.edu	37	chr16	1836918	1836918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcctgctggagaagcCggacgaggccgtggtgtgga	19	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1836918C>T	uc002cmw.3	+	3	385	c.296C>T	c.(295-297)CCG>CTG	p.P99L	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Missense_Mutation_p.P39L	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	99						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						CTGGAGAAGCCGGACGAGGCC	0.687													T	1836918	C	T	1836918	3	4	189	1	0	0	0	0	1	0	0	0	10716	652	23	1	306	1	NUBP2	16	1836918	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	18690	1836918	88517835	3755	101612											
IGFALS	3483	broad.mit.edu	37	chr16	1842147	1842147	+	Frame_Shift_Del	DEL	G	G	-													agaggttctggaaggctgccGgggggacggacgagaggttg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:1842147delG	uc002cmy.2	-	2	353	c.272delC	c.(271-273)CCGfs	p.P91fs	IGFALS_uc010uvn.1_Frame_Shift_Del_p.P129fs|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	91	LRR 1.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GAAGGCTGCCGGGGGGACGGA	0.682													-	1842147	G	-	1842147	7	5	189	1	0	1	0	1	0	0	0	0	7577	1116	39	0	1549	0	IGFALS	16	1842147	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	5229	1842147	88512606	3756	101613											
RNF151	146310	broad.mit.edu	37	chr16	2018579	2018579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaccctggcagagcacCggcagcattgccagcaaggg	16	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2018579C>A	uc002cnt.1	+	4	399	c.391C>A	c.(391-393)CGG>AGG	p.R131R		NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	ring finger protein 151	131	TRAF-type.				cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding				0						GGCAGAGCACCGGCAGCATTG	0.706													A	2018579	C	A	2018579	2	1	189	1	0	0	0	0	0	0	0	1	13452	643	23	5		5	RNF151	16	2018579	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	176432	2018579	88336174	3757	101614											
PKD1	5310	broad.mit.edu	37	chr16	2153699	2153699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctccgcgggtccgagcGcttgccctgggccacgatct	14	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2153699G>A	uc002cos.1	-	23	8568	c.8359C>T	c.(8359-8361)CGC>TGC	p.R2787C	PKD1_uc002cot.1_Missense_Mutation_p.R2787C|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2787	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GGGTCCGAGCGCTTGCCCTGG	0.701													A	2153699	G	A	2153699	3	1	189	1	0	0	0	0	1	0	0	0	11963	1087	38	1	4648	1	PKD1	16	2153699	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	135120	2153699	88201054	3758	101615											
CASKIN1	57524	broad.mit.edu	37	chr16	2237034	2237034	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcgtaattgttgcaaTaatccttggtcgcccggacc	10	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2237034T>A	uc010bsg.1	-	9	907	c.875A>T	c.(874-876)TAT>TTT	p.Y292F		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	292	SH3.				signal transduction	cytoplasm				skin(2)	2						ATTGTTGCAATAATCCTTGGT	0.657													A	2237034	T	A	2237034	3	1	189	1	0	0	0	0	1	0	0	0	2666	1406	49	5	3468	5	CASKIN1	16	2237034	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	83335	2237034	88117719	3759	101616											
C16orf79	283870	broad.mit.edu	37	chr16	2259973	2259973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtatccaccagcagcCgcagggtctcccgatcactg	12	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2259973C>T	uc010bsh.2	-	4	593	c.416G>A	c.(415-417)CGG>CAG	p.R139Q	C16orf79_uc002cpi.1_Missense_Mutation_p.R139Q	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	hypothetical protein LOC283870	139	BRICHOS.					integral to membrane				central_nervous_system(1)	1						CACCAGCAGCCGCAGGGTCTC	0.672													T	2259973	C	T	2259973	3	4	189	1	0	0	0	0	1	0	0	0	1836	652	23	1	282	1	C16orf79	16	2259973	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	22939	2259973	88094780	3760	101617											
E4F1	1877	broad.mit.edu	37	chr16	2278379	2278379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctcgttgcagatgaggAcgatgtgcacagatgcggcc	15	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2278379A>G	uc002cpm.2	+	2	212	c.164A>G	c.(163-165)GAC>GGC	p.D55G	E4F1_uc010bsi.2_Missense_Mutation_p.D55G|E4F1_uc010bsj.2_Missense_Mutation_p.D55G	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	55	Required for ubiquitin ligase activity.				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						GCAGATGAGGACGATGTGCAC	0.627													G	2278379	A	G	2278379	3	3	189	1	0	0	0	0	1	0	0	0	4874	275	10	3	170	3	E4F1	16	2278379	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	18406	2278379	88076374	3761	101618											
ABCA3	21	broad.mit.edu	37	chr16	2369674	2369674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaggggcagctggtActggatggccacgaggaagg	18	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2369674A>G	uc002cpy.1	-	8	1493	c.781T>C	c.(781-783)TAC>CAC	p.Y261H	ABCA3_uc010bsk.1_Missense_Mutation_p.Y261H|ABCA3_uc010bsl.1_Missense_Mutation_p.Y261H	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	261	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GGCAGCTGGTACTGGATGGCC	0.622													G	2369674	A	G	2369674	3	3	189	1	0	0	0	0	1	0	0	0	33	391	14	3	4437	3	ABCA3	16	2369674	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	91295	2369674	87985079	3762	101619											
NTN3	4917	broad.mit.edu	37	chr16	2522124	2522124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaagtctcaggaccatgGccgcagctgggccccgctgg	14	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2522124G>A	uc002cqj.2	+	1	625	c.422G>A	c.(421-423)GGC>GAC	p.G141D		NM_006181	NP_006172	O00634	NET3_HUMAN	netrin 3 precursor	141	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				central_nervous_system(1)	1						CAGGACCATGGCCGCAGCTGG	0.672													A	2522124	G	A	2522124	3	1	189	1	0	0	0	0	1	0	0	0	10701	1203	42	2	424	2	NTN3	16	2522124	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	152450	2522124	87832629	3763	101620											
SRRM2	23524	broad.mit.edu	37	chr16	2816641	2816641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcgaacgccactgttaCcacgcaaacgttctcgaagt	8	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:2816641C>T	uc002crk.2	+	11	6661	c.6112C>T	c.(6112-6114)CCA>TCA	p.P2038S	SRRM2_uc002crj.1_Missense_Mutation_p.P1942S|SRRM2_uc002crl.1_Missense_Mutation_p.P2038S|SRRM2_uc010bsu.1_Missense_Mutation_p.P1942S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2038	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCCACTGTTACCACGCAAACG	0.597													T	2816641	C	T	2816641	3	4	189	1	0	0	0	0	1	0	0	0	15168	507	18	4	6150	4	SRRM2	16	2816641	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	294517	2816641	87538112	3764	101621											
PKMYT1	9088	broad.mit.edu	37	chr16	3026876	3026876	+	Frame_Shift_Del	DEL	G	G	-													tgggaatgctgcccttggcaGggggcggaggtgggaggctc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3026876delG	uc002csn.2	-	3	610	c.167delC	c.(166-168)CCTfs	p.P56fs	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Frame_Shift_Del_p.P56fs|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Frame_Shift_Del_p.P47fs|PKMYT1_uc002csq.2_Frame_Shift_Del_p.P47fs|PKMYT1_uc010bsy.1_Frame_Shift_Del_p.P47fs	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	56	Pro-rich.				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			stomach(1)	1						GCCCTTGGCAGGGGGCGGAGG	0.701													-	3026876	G	-	3026876	7	5	189	1	0	1	0	1	0	0	0	0	11978	1000	35	0	1398	0	PKMYT1	16	3026876	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	210235	3026876	87327877	3765	101622											
CLDN9	9080	broad.mit.edu	37	chr16	3063692	3063692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaccacgtgtgtggaggAcgaaggtgccaaggcccgta	16	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3063692A>G	uc010uwo.1	+	1	1236	c.329A>G	c.(328-330)GAC>GGC	p.D110G		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	110	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TGTGTGGAGGACGAAGGTGCC	0.667													G	3063692	A	G	3063692	3	3	189	1	0	0	0	0	1	0	0	0	3492	275	10	3	331	3	CLDN9	16	3063692	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	36816	3063692	87291061	3766	101623											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139421	3139421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggttggagctattgcGgaaacggtggccgcaggtgt	18	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3139421G>A	uc002ctv.1	-	5	1937	c.1849C>T	c.(1849-1851)CGC>TGC	p.R617C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R278C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R535C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R545C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	617	C2H2-type 11.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GAGCTATTGCGGAAACGGTGG	0.701													A	3139421	G	A	3139421	3	1	189	1	0	0	0	0	1	0	0	0	18224	1116	39	1	332	1	ZSCAN10	16	3139421	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	75729	3139421	87215332	3767	101624											
MEFV	4210	broad.mit.edu	37	chr16	3297108	3297108	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcctgggatacgcgggtgtCatatgccttcctgatctgcc	12	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3297108C>T	uc002cun.1	-	5	1535	c.1495G>A	c.(1495-1497)GAC>AAC	p.D499N		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	499					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	ACGCGGGTGTCATATGCCTTC	0.577													T	3297108	C	T	3297108	3	4	189	1	0	0	0	0	1	0	0	0	9459	826	29	4	874	4	MEFV	16	3297108	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	157687	3297108	87057645	3768	101625											
ZNF75A	7627	broad.mit.edu	37	chr16	3363138	3363138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggccctctacaatgaTgtaatgcaggaaaactatga	9	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3363138T>C	uc002cut.3	+	4	589	c.63T>C	c.(61-63)GAT>GAC	p.D21D	ZNF75A_uc002cuv.3_Intron	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						TCTACAATGATGTAATGCAGG	0.408													C	3363138	T	C	3363138	2	2	189	1	0	0	0	0	0	0	0	1	18130	1461	51	3		3	ZNF75A	16	3363138	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	66030	3363138	86991615	3769	101626											
BTBD12	84464	broad.mit.edu	37	chr16	3640761	3640761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtccctggaagggcTggagcagctggaatggccaa	16	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3640761T>C	uc002cvp.2	-	12	3505	c.2878A>G	c.(2878-2880)AGC>GGC	p.S960G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	960	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTGGAAGGGCTGGAGCAGCTG	0.637								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				C	3640761	T	C	3640761	3	2	189	1	0	0	0	0	1	0	0	0	1540	1580	55	3	2642	3	BTBD12	16	3640761	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	277623	3640761	86713992	3770	101627											
DNASE1	1773	broad.mit.edu	37	chr16	3707235	3707235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctgcagctatgtgagAccctcccagtggtcatccat	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3707235A>G	uc002cvr.2	+	7	2704	c.597A>G	c.(595-597)AGA>AGG	p.R199R		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	199					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	GCTATGTGAGACCCTCCCAGT	0.632								Direct_reversal_of_damage					G	3707235	A	G	3707235	2	3	189	1	0	0	0	0	0	0	0	1	4660	272	10	3		3	DNASE1	16	3707235	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	66474	3707235	86647518	3771	101628											
CREBBP	1387	broad.mit.edu	37	chr16	3828788	3828788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgatcctttagagctgcGggatcaggtgttgggaagat	16	7	1	2	rs61754522		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:3828788G>A	uc002cvv.2	-	9	2058	c.1854C>T	c.(1852-1854)CCC>CCT	p.P618P	CREBBP_uc002cvw.2_Silent_p.P580P	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTAGAGCTGCGGGATCAGGTG	0.448			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3828788	G	A	3828788	2	1	189	1	0	0	0	0	0	0	0	1	3861	1103	39	1		1	CREBBP	16	3828788	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	121553	3828788	86525965	3772	101629											
DNAJA3	9093	broad.mit.edu	37	chr16	4492327	4492327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaacaaggagttcaccgTgaacatcatggacacgtgtg	12	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:4492327T>C	uc002cwk.2	+	5	714	c.689T>C	c.(688-690)GTG>GCG	p.V230A	DNAJA3_uc002cwl.2_Missense_Mutation_p.V230A|DNAJA3_uc010uxk.1_Missense_Mutation_p.V77A	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	230	CR-type.				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						GAGTTCACCGTGAACATCATG	0.532													C	4492327	T	C	4492327	3	2	189	1	0	0	0	0	1	0	0	0	4613	1696	59	3	707	3	DNAJA3	16	4492327	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	663539	4492327	85862426	3773	101630											
NMRAL1	57407	broad.mit.edu	37	chr16	4513759	4513759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgatgttctggccgaCgtatttttctggcatcttca	9	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:4513759C>T	uc002cwm.2	-	5	778	c.622G>A	c.(622-624)GTC>ATC	p.V208I	NMRAL1_uc002cwn.2_Missense_Mutation_p.V208I|NMRAL1_uc002cwo.2_Missense_Mutation_p.V208I|NMRAL1_uc002cwp.2_Missense_Mutation_p.V244I	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	208						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						TTCTGGCCGACGTATTTTTCT	0.602													T	4513759	C	T	4513759	3	4	189	1	0	0	0	0	1	0	0	0	10501	536	19	1	285	1	NMRAL1	16	4513759	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21432	4513759	85840994	3774	101631											
UBN1	29855	broad.mit.edu	37	chr16	4911013	4911013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaagtgattcccttggGgtgggattggaccaggaatt	16	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:4911013G>A	uc002cyb.2	+	7	1359	c.1020G>A	c.(1018-1020)GGG>GGA	p.G340G	UBN1_uc010uxw.1_Silent_p.G340G|UBN1_uc002cyc.2_Silent_p.G340G	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	340					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			skin(2)	2						ATTCCCTTGGGGTGGGATTGG	0.572													A	4911013	G	A	4911013	2	1	189	1	0	0	0	0	0	0	0	1	16889	1219	43	4		4	UBN1	16	4911013	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	397254	4911013	85443740	3775	101632											
PPL	5493	broad.mit.edu	37	chr16	4933734	4933734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcttgacggccacggagCccaggcgcttctgcagctcg	13	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:4933734C>G	uc002cyd.1	-	22	5012	c.4922G>C	c.(4921-4923)GGC>GCC	p.G1641A		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1641	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GGCCACGGAGCCCAGGCGCTT	0.637													G	4933734	C	G	4933734	3	3	189	1	0	0	0	0	1	0	0	0	12334	739	26	5	352	5	PPL	16	4933734	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	22721	4933734	85421019	3776	101633											
PPL	5493	broad.mit.edu	37	chr16	4935386	4935388	+	In_Frame_Del	DEL	CTC	CTC	-													ttgtcctggaggaagctcagCtcctcctcctgcttctccct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:4935385_4935387GCTC>G	uc002cyd.1	-	21	3359_3361	c.3269_3271GAGC>C	c.(3268-3273)gagctg>gCtg	p.1090_1091EL>A		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1090					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						AGGAAGCTCAGCTCCTCCTCCTG	0.616													-	4935388	CTC	-	4935386	7	5	189	1	0	1	0	1	0	0	0	0	12334	796	28	0	2004	0	PPL	16	4935386	In_Frame_Del	DEL	CTC	TCGA-CG-5721-01A-11D-1600-08	1652	4935386	85419367	3777	101634											
CIITA	4261	broad.mit.edu	37	chr16	11001507	11001507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatgcttcctgggggccCtgtggctggctctgagtggc	16	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:11001507C>A	uc002dai.3	+	11	2291	c.2158C>A	c.(2158-2160)CTG>ATG	p.L720M	CIITA_uc002daj.3_Missense_Mutation_p.L721M|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L720M|CIITA_uc002dah.2_Missense_Mutation_p.L672M|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	720	NACHT.				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)	1						CCTGGGGGCCCTGTGGCTGGC	0.622			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								A	11001507	C	A	11001507	3	1	189	1	0	0	0	0	1	0	0	0	3428	680	24	5	2200	5	CIITA	16	11001507	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6066121	11001507	79353246	3778	101635											
SOCS1	8651	broad.mit.edu	37	chr16	11348957	11348957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcctgaaagtgcacgcGgatgctcgtgggtcccgagg	17	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:11348957G>A	uc002dar.1	-	2	533	c.379C>T	c.(379-381)CGC>TGC	p.R127C	C16orf75_uc002daq.1_Intron	NM_003745	NP_003736	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	127	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.R127_*212del(1)		haematopoietic_and_lymphoid_tissue(64)|lung(3)|breast(1)|central_nervous_system(1)	69						AAGTGCACGCGGATGCTCGTG	0.687			F|O		Hodgkin Lymphoma|PMBL								A	11348957	G	A	11348957	3	1	189	1	0	0	0	0	1	0	0	0	14913	1116	39	1	260	1	SOCS1	16	11348957	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	347450	11348957	79005796	3779	101636											
ZC3H7A	29066	broad.mit.edu	37	chr16	11861389	11861389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaatatctttcttacacTtatgatctatgttagcatgg	5	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:11861389T>G	uc002dbk.2	-	12	1604	c.1406A>C	c.(1405-1407)AAG>ACG	p.K469T	ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.K469T|ZC3H7A_uc002dbm.1_Missense_Mutation_p.K379T	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	469						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TTTCTTACACTTATGATCTAT	0.299													G	11861389	T	G	11861389	3	3	189	1	0	0	0	0	1	0	0	0	17569	1609	56	5	1553	5	ZC3H7A	16	11861389	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	512432	11861389	78493364	3780	101637											
ZC3H7A	29066	broad.mit.edu	37	chr16	11868834	11868834	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgatatgtgaaaacatAcctggctcaatatcttccac	6	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:11868834A>G	uc002dbk.2	-	7	817	c.619_splice	c.e7+1	p.D207_splice	ZC3H7A_uc002dbl.2_Splice_Site_p.D207_splice|ZC3H7A_uc002dbm.1_Splice_Site_p.D207_splice	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A							nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						GTGAAAACATACCTGGCTCAA	0.333													G	11868834	A	G	11868834	5	3	189	1	0	0	0	0	0	0	1	0	17569	405	14	3	2358	3	ZC3H7A	16	11868834	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7445	11868834	78485919	3781	101638											
CPPED1	55313	broad.mit.edu	37	chr16	12798799	12798799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggtctcggccgtgggggTgttgccaatgtcatggttgc	17	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:12798799T>C	uc002dca.3	-	3	508	c.397A>G	c.(397-399)ACC>GCC	p.T133A	CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	133							hydrolase activity|metal ion binding				0						GCCGTGGGGGTGTTGCCAATG	0.627													C	12798799	T	C	12798799	3	2	189	1	0	0	0	0	1	0	0	0	3822	1696	59	3	555	3	CPPED1	16	12798799	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	929965	12798799	77555954	3782	101639											
MKL2	57496	broad.mit.edu	37	chr16	14354893	14354893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagtccaaatggcaccAcctgtatctttagaacctat	5	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:14354893A>G	uc010uza.1	+	17	3047	c.2892A>G	c.(2890-2892)CCA>CCG	p.P964P	MKL2_uc002dcg.2_Silent_p.P914P|MKL2_uc002dcj.2_Silent_p.P209P	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	953					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			ovary(3)|kidney(1)|pancreas(1)	5						AAATGGCACCACCTGTATCTT	0.478													G	14354893	A	G	14354893	2	3	189	1	0	0	0	0	0	0	0	1	9602	146	6	3		3	MKL2	16	14354893	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1556094	14354893	75999860	3783	101640											
NTAN1	123803	broad.mit.edu	37	chr16	15132496	15132496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatggtgtccaggagtAcggtcctatacgaagttgtt	13	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:15132496A>G	uc002ddd.2	-	9	693	c.688T>C	c.(688-690)TAC>CAC	p.Y230H	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Missense_Mutation_p.Y125H	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	230						cytoplasm					0						GTCCAGGAGTACGGTCCTATA	0.373													G	15132496	A	G	15132496	3	3	189	1	0	0	0	0	1	0	0	0	10695	391	14	3	252	3	NTAN1	16	15132496	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	777603	15132496	75222257	3784	101641											
RRN3	54700	broad.mit.edu	37	chr16	15155702	15155702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggtgtgatcccaatcaCggtatcattctggggcactt	11	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:15155702C>T	uc002dde.2	-	18	1923	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.V487M|RRN3_uc010uzq.1_Missense_Mutation_p.V589M	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	619	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						ATCCCAATCACGGTATCATTC	0.493													T	15155702	C	T	15155702	3	4	189	1	0	0	0	0	1	0	0	0	13684	536	19	1	104	1	RRN3	16	15155702	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23206	15155702	75199051	3785	101642											
KIAA0430	9665	broad.mit.edu	37	chr16	15725274	15725274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctggagcagtgtgtgTatttgcaaatctgcggagac	15	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:15725274T>C	uc002ddr.2	-	6	1508	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	KIAA0430_uc002ddq.2_Missense_Mutation_p.T438A|KIAA0430_uc010uzv.1_Missense_Mutation_p.T435A|KIAA0430_uc010uzw.1_Missense_Mutation_p.T438A	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	438						peroxisome	nucleotide binding|RNA binding				0						GCAGTGTGTGTATTTGCAAAT	0.423													C	15725274	T	C	15725274	3	2	189	1	0	0	0	0	1	0	0	0	8177	1638	57	3	4004	3	KIAA0430	16	15725274	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	569572	15725274	74629479	3786	101643											
MYH11	4629	broad.mit.edu	37	chr16	15842010	15842010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccagcaccaggaacgCatccagcttgccggactgca	10	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:15842010C>T	uc002ddy.2	-	17	2181	c.2074G>A	c.(2074-2076)GCG>ACG	p.A692T	MYH11_uc002ddv.2_Missense_Mutation_p.A699T|MYH11_uc002ddw.2_Missense_Mutation_p.A692T|MYH11_uc002ddx.2_Missense_Mutation_p.A699T|MYH11_uc010bvg.2_Missense_Mutation_p.A524T	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	692	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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						ACCAGGAACGCATCCAGCTTG	0.617			T	CBFB	AML								T	15842010	C	T	15842010	3	4	189	1	0	0	0	0	1	0	0	0	10031	710	25	2	3979	2	MYH11	16	15842010	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	116736	15842010	74512743	3787	101644											
MYH11	4629	broad.mit.edu	37	chr16	15853509	15853509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtcttgtccagggctTtgttcacgcgggtgagtatc	15	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:15853509T>C	uc002ddy.2	-	12	1432	c.1325A>G	c.(1324-1326)AAA>AGA	p.K442R	MYH11_uc002ddv.2_Missense_Mutation_p.K449R|MYH11_uc002ddw.2_Missense_Mutation_p.K442R|MYH11_uc002ddx.2_Missense_Mutation_p.K449R|MYH11_uc010bvg.2_Missense_Mutation_p.K274R|MYH11_uc002dea.1_Missense_Mutation_p.K148R	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	442	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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTCCAGGGCTTTGTTCACGCG	0.552			T	CBFB	AML								C	15853509	T	C	15853509	3	2	189	1	0	0	0	0	1	0	0	0	10031	1841	64	3	4748	3	MYH11	16	15853509	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11499	15853509	74501244	3788	101645											
XYLT1	64131	broad.mit.edu	37	chr16	17211735	17211735	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acggtcacggtcacattaggTcccttcccccacttctgcat	7	16	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:17211735T>A	uc002dfa.2	-	11	2410	c.2325A>T	c.(2323-2325)GGA>GGT	p.G775G		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	775	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						TCACATTAGGTCCCTTCCCCC	0.562													A	17211735	T	A	17211735	2	1	189	1	0	0	0	0	0	0	0	1	17460	1654	58	5		5	XYLT1	16	17211735	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1358226	17211735	73143018	3789	101646											
XYLT1	64131	broad.mit.edu	37	chr16	17292097	17292097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcggccgcactcaggtTgatgaagaagtcccagggcc	14	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:17292097T>C	uc002dfa.2	-	5	1346	c.1261A>G	c.(1261-1263)AAC>GAC	p.N421D		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	421	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GCACTCAGGTTGATGAAGAAG	0.617													C	17292097	T	C	17292097	3	2	189	1	0	0	0	0	1	0	0	0	17460	1812	63	3	1650	3	XYLT1	16	17292097	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	80362	17292097	73062656	3790	101647											
SMG1	23049	broad.mit.edu	37	chr16	18859270	18859270	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctgagatgcaggaggActtcctccctcacattcaga	8	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:18859270A>G	uc002dfm.2	-	37	6072	c.5709T>C	c.(5707-5709)AGT>AGC	p.S1903S	SMG1_uc010bwb.2_Silent_p.S1763S|SMG1_uc010bwa.2_Silent_p.S634S|SMG1_uc002dfo.3_Silent_p.S201S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1903	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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ATGCAGGAGGACTTCCTCCCT	0.383													G	18859270	A	G	18859270	2	3	189	1	0	0	0	0	0	0	0	1	14795	272	10	3		3	SMG1	16	18859270	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1567173	18859270	71495483	3791	101648											
SMG1	23049	broad.mit.edu	37	chr16	18863428	18863428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacagcctgtccaagaatAccatatattctctctttctc	3	14	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:18863428A>G	uc002dfm.2	-	33	5376	c.5013T>C	c.(5011-5013)GGT>GGC	p.G1671G	SMG1_uc010bwb.2_Silent_p.G1531G|SMG1_uc010bwa.2_Silent_p.G402G|SMG1_uc002dfo.3_5'Flank	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1671	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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GTCCAAGAATACCATATATTC	0.448													G	18863428	A	G	18863428	2	3	189	1	0	0	0	0	0	0	0	1	14795	378	14	3		3	SMG1	16	18863428	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4158	18863428	71491325	3792	101649											
COQ7	10229	broad.mit.edu	37	chr16	19089418	19089418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggctccagcctatgccGtcctgaagagcattatccag	9	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:19089418G>A	uc002dfr.2	+	6	652	c.592G>A	c.(592-594)GTC>ATC	p.V198I	COQ7_uc002dfs.2_Missense_Mutation_p.V184I	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	198	2.|2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						AGCCTATGCCGTCCTGAAGAG	0.423													A	19089418	G	A	19089418	3	1	189	1	0	0	0	0	1	0	0	0	3750	1145	40	1	614	1	COQ7	16	19089418	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	225990	19089418	71265335	3793	101650											
TMC5	79838	broad.mit.edu	37	chr16	19475299	19475299	+	Frame_Shift_Del	DEL	A	A	-													tccctcagtttaccgtggccAaaaagaacaccctccagttc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:19475298_19475298CA>C	uc002dgc.4	+	7	2186	c.1437_1437CA>C	c.(1435-1437)gccfs	p.A479fs	TMC5_uc010vaq.2_Frame_Shift_Del_p.A479fs|TMC5_uc002dgb.4_Frame_Shift_Del_p.A479fs|TMC5_uc010var.2_Frame_Shift_Del_p.A479fs|TMC5_uc002dgd.1_Frame_Shift_Del_p.A233fs|TMC5_uc002dge.4_Frame_Shift_Del_p.A233fs|TMC5_uc002dgf.4_Frame_Shift_Del_p.A162fs|TMC5_uc002dgg.4_Frame_Shift_Del_p.A120fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	479						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						TTACCGTGGCCAAAAAGAACA	0.468													-	19475299	A	-	19475299	7	5	189	1	0	1	0	1	0	0	0	0	15985	131	5	0	1774	0	TMC5	16	19475299	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	385881	19475299	70879454	3794	101651											
C16orf62	57020	broad.mit.edu	37	chr16	19613036	19613036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtggatagccgcagcGtcttaccaggtaatgtcgca	13	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:19613036G>A	uc002dgn.1	+	9	787	c.775G>A	c.(775-777)GTC>ATC	p.V259I	C16orf62_uc002dgo.1_Missense_Mutation_p.V259I|C16orf62_uc002dgp.1_Missense_Mutation_p.V8I|C16orf62_uc010vas.1_Missense_Mutation_p.V133I|C16orf62_uc002dgm.1_Missense_Mutation_p.V259I	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	259						integral to membrane				ovary(1)	1						TAGCCGCAGCGTCTTACCAGG	0.483											OREG0023661	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	19613036	G	A	19613036	3	1	189	1	0	0	0	0	1	0	0	0	1825	1145	40	1	809	1	C16orf62	16	19613036	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	137737	19613036	70741717	3795	101652											
GPRC5B	51704	broad.mit.edu	37	chr16	19884072	19884072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccacagcctcgggatgtGctggcgttttcagaggccac	13	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:19884072G>A	uc002dgt.2	-	2	204	c.96C>T	c.(94-96)AGC>AGT	p.S32S	GPRC5B_uc010vav.1_Silent_p.S58S	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	32	Extracellular (Potential).									lung(1)|breast(1)|skin(1)	3						CTCGGGATGTGCTGGCGTTTT	0.617													A	19884072	G	A	19884072	2	1	189	1	0	0	0	0	0	0	0	1	6725	1310	46	2		2	GPRC5B	16	19884072	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	271036	19884072	70470681	3796	101653											
GP2	2813	broad.mit.edu	37	chr16	20325983	20325983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaatgatgtacctgcAgtgctaggggttccattcat	11	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:20325983A>G	uc002dgv.2	-	11	1634	c.1551T>C	c.(1549-1551)ACT>ACC	p.T517T	GP2_uc002dgw.2_Silent_p.T514T|GP2_uc002dgx.2_Silent_p.T370T|GP2_uc002dgy.2_Silent_p.T367T	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	517						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ATGTACCTGCAGTGCTAGGGG	0.408													G	20325983	A	G	20325983	2	3	189	1	0	0	0	0	0	0	0	1	6582	175	7	3		3	GP2	16	20325983	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	441911	20325983	70028770	3797	101654											
DNAH3	55567	broad.mit.edu	37	chr16	20946788	20946788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatccaaaataccacagggGgccccttgtcaatccattcc	7	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:20946788G>T	uc010vbe.1	-	61	11879	c.11879C>A	c.(11878-11880)CCC>CAC	p.P3960H	DNAH3_uc010vbd.1_Missense_Mutation_p.P1395H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3960					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TACCACAGGGGGCCCCTTGTC	0.418													T	20946788	G	T	20946788	3	4	189	1	0	0	0	0	1	0	0	0	4603	1232	43	5	478	5	DNAH3	16	20946788	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	620805	20946788	69407965	3798	101655											
DNAH3	55567	broad.mit.edu	37	chr16	20966223	20966223	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccacatcaccgcctttgcAcagctttggaagaacacagg	9	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:20966223A>G	uc010vbe.1	-	55	10983	c.10983T>C	c.(10981-10983)TGT>TGC	p.C3661C	DNAH3_uc010vbd.1_Silent_p.C1096C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3661	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCGCCTTTGCACAGCTTTGGA	0.512													G	20966223	A	G	20966223	2	3	189	1	0	0	0	0	0	0	0	1	4603	157	6	3		3	DNAH3	16	20966223	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	19435	20966223	69388530	3799	101656											
DNAH3	55567	broad.mit.edu	37	chr16	21117982	21117982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctgcgatgtggctgtActgattacaaatgctacaga	10	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:21117982A>G	uc010vbe.1	-	15	2113	c.2113T>C	c.(2113-2115)TAC>CAC	p.Y705H	DNAH3_uc002die.2_Missense_Mutation_p.Y645H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	705	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATGTGGCTGTACTGATTACAA	0.348													G	21117982	A	G	21117982	3	3	189	1	0	0	0	0	1	0	0	0	4603	391	14	3	10428	3	DNAH3	16	21117982	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	151759	21117982	69236771	3800	101657											
ZP2	7783	broad.mit.edu	37	chr16	21209140	21209140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactcttctccccactgctcCcacttgcttttagatcagat	4	15	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:21209140C>A	uc002dii.2	-	18	2042	c.2042G>T	c.(2041-2043)GGG>GTG	p.G681V	ZP2_uc010bwn.1_Missense_Mutation_p.G711V	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	681	Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		CCCACTGCTCCCACTTGCTTT	0.478													A	21209140	C	A	21209140	3	1	189	1	0	0	0	0	1	0	0	0	18213	623	22	5	203	5	ZP2	16	21209140	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	91158	21209140	69145613	3801	101658											
CRYM	1428	broad.mit.edu	37	chr16	21288787	21288787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgctgggctcaaagagtaGcacagtagcctggtgggaag	15	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:21288787G>T	uc002dik.2	-	2	374	c.289C>A	c.(289-291)CTA>ATA	p.L97I	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.L55I|CRYM_uc002dim.2_Missense_Mutation_p.L97I	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	97					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	TCAAAGAGTAGCACAGTAGCC	0.602													T	21288787	G	T	21288787	3	4	189	1	0	0	0	0	1	0	0	0	3921	962	34	5	683	5	CRYM	16	21288787	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	79647	21288787	69065966	3802	101659											
IGSF6	10261	broad.mit.edu	37	chr16	21654458	21654458	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaatttcctgaaaaatAcgccgagcactcttcttcta	6	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:21654458A>G	uc002djg.1	-	5	656	c.603T>C	c.(601-603)CGT>CGC	p.R201R	uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	NM_005849	NP_005840	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6 precursor	201	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0				GBM - Glioblastoma multiforme(48;0.066)		CCTGAAAAATACGCCGAGCAC	0.328													G	21654458	A	G	21654458	2	3	189	1	0	0	0	0	0	0	0	1	7603	378	14	3		3	IGSF6	16	21654458	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	365671	21654458	68700295	3803	101660											
EEF2K	29904	broad.mit.edu	37	chr16	22269862	22269862	+	Frame_Shift_Del	DEL	C	C	-													acagaggaaaaatgtgggagCccccaagtaaggaccctctc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:22269861_22269861GC>G	uc002dki.3	+	9	1561	c.1076_1076GC>G	c.(1075-1077)agcfs	p.S359fs	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	359					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)		AAATGTGGGAGCCCCCAAGTA	0.532													-	22269862	C	-	22269862	7	5	189	1	0	1	0	1	0	0	0	0	4930	738	26	0	1111	0	EEF2K	16	22269862	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	615404	22269862	68084891	3804	101661											
POLR3E	55718	broad.mit.edu	37	chr16	22328320	22328320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgtccctgcagtgagTacctgatgatgctgatgcca	11	11	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:22328320T>C	uc002dkk.2	+	11	889	c.733T>C	c.(733-735)TAC>CAC	p.Y245H	POLR3E_uc002dkj.1_Missense_Mutation_p.Y245H|POLR3E_uc002dkm.2_Missense_Mutation_p.Y209H|POLR3E_uc010vbr.1_Missense_Mutation_p.Y245H|POLR3E_uc002dkl.2_Missense_Mutation_p.Y245H|POLR3E_uc010vbs.1_Missense_Mutation_p.Y209H|POLR3E_uc010vbt.1_Missense_Mutation_p.Y189H	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	245					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			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		CTGCAGTGAGTACCTGATGAT	0.642													C	22328320	T	C	22328320	3	2	189	1	0	0	0	0	1	0	0	0	12232	1638	57	3	771	3	POLR3E	16	22328320	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	58458	22328320	68026433	3805	101662											
EARS2	124454	broad.mit.edu	37	chr16	23540844	23540844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacacgcttggcaatcAcatccaccttctccgagatg	7	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:23540844A>G	uc002dlt.3	-	7	1363	c.1331T>C	c.(1330-1332)GTG>GCG	p.V444A	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.V444A	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	444					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTTGGCAATCACATCCACCTT	0.602													G	23540844	A	G	23540844	3	3	189	1	0	0	0	0	1	0	0	0	4878	159	6	3	252	3	EARS2	16	23540844	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1212524	23540844	66813909	3806	101663											
PALB2	79728	broad.mit.edu	37	chr16	23632760	23632760	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcagcaaaagttagtatAgtctcctcagggggcatcaa	9	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:23632760A>G	uc002dlx.1	-	10	3236	c.3036T>C	c.(3034-3036)ACT>ACC	p.T1012T		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1012	Interaction with RAD51 and BRCA2.|WD 4.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		AAGTTAGTATAGTCTCCTCAG	0.343			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				G	23632760	A	G	23632760	2	3	189	1	0	0	0	0	0	0	0	1	11406	407	15	3		3	PALB2	16	23632760	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	91916	23632760	66721993	3807	101664											
PALB2	79728	broad.mit.edu	37	chr16	23641278	23641278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggccaaaggctggagtagTacctaagatggggaaagcag	16	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:23641278T>C	uc002dlx.1	-	5	2397	c.2197A>G	c.(2197-2199)ACT>GCT	p.T733A		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	733					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GCTGGAGTAGTACCTAAGATG	0.453			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				C	23641278	T	C	23641278	3	2	189	1	0	0	0	0	1	0	0	0	11406	1638	57	3	1399	3	PALB2	16	23641278	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	8518	23641278	66713475	3808	101665											
PLK1	5347	broad.mit.edu	37	chr16	23700987	23700987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacggcagcgtgcagatcaActtcttccaggtgagctgga	12	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:23700987A>G	uc002dlz.1	+	9	1651	c.1598A>G	c.(1597-1599)AAC>AGC	p.N533S		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	533	POLO box 2.				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			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		GTGCAGATCAACTTCTTCCAG	0.642													G	23700987	A	G	23700987	3	3	189	1	0	0	0	0	1	0	0	0	12094	43	2	3	1632	3	PLK1	16	23700987	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	59709	23700987	66653766	3809	101666											
ERN2	10595	broad.mit.edu	37	chr16	23712303	23712303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcacaaagagaatccAccctcccaggaggacagcag	8	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:23712303A>G	uc002dma.3	-	12	1649	c.1480T>C	c.(1480-1482)TGG>CGG	p.W494R	ERN2_uc010bxp.2_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.W302R	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	446	Helical; (Potential).				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)		AAGAGAATCCACCCTCCCAGG	0.577													G	23712303	A	G	23712303	3	3	189	1	0	0	0	0	1	0	0	0	5238	159	6	3	1488	3	ERN2	16	23712303	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11316	23712303	66642450	3810	101667											
RBBP6	5930	broad.mit.edu	37	chr16	24581291	24581291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccagaaaagctcactctAaatcagcaaaagaacaccaa	4	14	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:24581291A>G	uc002dmh.2	+	17	4320	c.3280A>G	c.(3280-3282)AAA>GAA	p.K1094E	RBBP6_uc010vcb.1_Missense_Mutation_p.K961E|RBBP6_uc002dmi.2_Missense_Mutation_p.K1060E|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.K927E	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1094	Interaction with RB1 (By similarity).				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			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		AGCTCACTCTAAATCAGCAAA	0.383													G	24581291	A	G	24581291	3	3	189	1	0	0	0	0	1	0	0	0	13103	363	13	3	3400	3	RBBP6	16	24581291	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	868988	24581291	65773462	3811	101668											
TNRC6A	27327	broad.mit.edu	37	chr16	24802366	24802366	+	Frame_Shift_Del	DEL	G	G	-													tccaaaggctcaaactgccaGggggggtgggaagatgattc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:24802365_24802365AG>A	uc002dmm.3	+	5	2516	c.2402_2402AG>A	c.(2401-2403)cagfs	p.Q801fs	TNRC6A_uc010bxs.3_Frame_Shift_Del_p.Q548fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.Q548fs|TNRC6A_uc002dmn.3_Frame_Shift_Del_p.Q548fs|TNRC6A_uc002dmo.3_Frame_Shift_Del_p.Q548fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	801	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide 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)		TCAAACTGCCAGGGGGGGTGG	0.512													-	24802366	G	-	24802366	7	5	189	1	0	1	0	1	0	0	0	0	16337	991	35	0	2425	0	TNRC6A	16	24802366	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	221075	24802366	65552387	3812	101669											
NSMCE1	197370	broad.mit.edu	37	chr16	27246576	27246576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggactccaagacactgtTaatgttgttgatgaagtcct	9	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:27246576T>C	uc002doi.1	-	3	279	c.181A>G	c.(181-183)AAC>GAC	p.N61D	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	61					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						AAGACACTGTTAATGTTGTTG	0.468											OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	27246576	T	C	27246576	3	2	189	1	0	0	0	0	1	0	0	0	10675	1754	61	3	643	3	NSMCE1	16	27246576	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2444210	27246576	63108177	3813	101670											
IL4R	3566	broad.mit.edu	37	chr16	27374428	27374428	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgcggtggagcagggTggcacccaggccagtgcggt	18	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:27374428T>C	uc002don.2	+	11	1997	c.1755T>C	c.(1753-1755)GGT>GGC	p.G585G	IL4R_uc002dop.3_Silent_p.G570G|IL4R_uc010bxy.2_Silent_p.G585G|IL4R_uc002doo.2_Silent_p.G425G	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	585	Required for IL4-induced gene expression.|Cytoplasmic (Potential).				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			ovary(1)|skin(1)	2						TGGAGCAGGGTGGCACCCAGG	0.642													C	27374428	T	C	27374428	2	2	189	1	0	0	0	0	0	0	0	1	7698	1683	59	3		3	IL4R	16	27374428	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	127852	27374428	62980325	3814	101671											
GTF3C1	2975	broad.mit.edu	37	chr16	27500487	27500487	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaagccttcatccaccacCtcacggcttccactaaaaga	4	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:27500487C>A	uc002dov.1	-	21	3346	c.3306G>T	c.(3304-3306)GAG>GAT	p.E1102D	GTF3C1_uc002dou.2_Missense_Mutation_p.E1102D	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1102						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CATCCACCACCTCACGGCTTC	0.527													A	27500487	C	A	27500487	3	1	189	1	0	0	0	0	1	0	0	0	6872	680	24	5	3091	5	GTF3C1	16	27500487	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	126059	27500487	62854266	3815	101672											
KIAA0556	23247	broad.mit.edu	37	chr16	27761462	27761462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagatcccactccatcAccattgacttcacgcaccct	7	17	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:27761462A>G	uc002dow.2	+	16	3205	c.3181A>G	c.(3181-3183)ACC>GCC	p.T1061A		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1061										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CCACTCCATCACCATTGACTT	0.557													G	27761462	A	G	27761462	3	3	189	1	0	0	0	0	1	0	0	0	8183	159	6	3	3243	3	KIAA0556	16	27761462	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	260975	27761462	62593291	3816	101673											
CLN3	1201	broad.mit.edu	37	chr16	28503056	28503056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggaatccgaaaagcgccGccgcgagcctgcacagcctc	11	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:28503056G>A	uc002dpo.2	-	1	348	c.25C>T	c.(25-27)CGG>TGG	p.R9W	uc010vct.1_Intron|CLN3_uc002dpl.2_5'UTR|CLN3_uc010vcu.1_5'UTR|CLN3_uc002dpn.2_Missense_Mutation_p.R9W|CLN3_uc002dpm.2_5'UTR|CLN3_uc010vcv.1_Missense_Mutation_p.R9W|CLN3_uc010byd.2_Missense_Mutation_p.R9W|CLN3_uc002dpp.2_Missense_Mutation_p.R9W|CLN3_uc002dpt.1_5'UTR|CLN3_uc002dpq.1_Missense_Mutation_p.R9W|CLN3_uc010bye.1_Missense_Mutation_p.R9W|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Silent_p.G10G|CLN3_uc002dpu.1_5'UTR|CLN3_uc002dpw.1_5'UTR|CLN3_uc010vcw.1_5'UTR|CLN3_uc002dqa.2_Missense_Mutation_p.R9W|CLN3_uc010vcx.1_5'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.R9W|CLN3_uc002dpy.1_Silent_p.G10G|CLN3_uc002dpz.1_RNA|APOB48R_uc002dqb.1_5'Flank|APOB48R_uc010byg.1_5'Flank	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	9					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						GAAAAGCGCCGCCGCGAGCCT	0.642											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	28503056	G	A	28503056	3	1	189	1	0	0	0	0	1	0	0	0	3543	1086	38	1	1351	1	CLN3	16	28503056	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	741594	28503056	61851697	3817	101674											
SULT1A2	6799	broad.mit.edu	37	chr16	28603680	28603680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctccttgaacgacgTgtgctcaaccatgaggtcca	8	13	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:28603680T>C	uc002dqg.1	-	7	1030	c.679A>G	c.(679-681)ACG>GCG	p.T227A	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.T227A	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	227	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TTGAACGACGTGTGCTCAACC	0.552													C	28603680	T	C	28603680	3	2	189	1	0	0	0	0	1	0	0	0	15372	1696	59	3	216	3	SULT1A2	16	28603680	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	100624	28603680	61751073	3818	101675											
C16orf53	79447	broad.mit.edu	37	chr16	29831039	29831039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccccactccgatcctcCgggagtagtctcttccctcg	8	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:29831039C>T	uc002dug.3	+	3	1048	c.729C>T	c.(727-729)TCC>TCT	p.S243S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duh.1_Intron|MVP_uc010bzh.1_5'Flank|MVP_uc010vdz.1_5'Flank|MVP_uc002dui.2_5'Flank|MVP_uc002duj.2_5'Flank	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein	243											0						TCCGATCCTCCGGGAGTAGTC	0.642													T	29831039	C	T	29831039	2	4	189	1	0	0	0	0	0	0	0	1	1818	639	23	1		1	C16orf53	16	29831039	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1227359	29831039	60523714	3819	101676											
MVP	9961	broad.mit.edu	37	chr16	29848270	29848270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagctggggcagaagcgCgtggtcaaggtgaggtccct	16	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:29848270C>T	uc002dui.2	+	7	984	c.900C>T	c.(898-900)CGC>CGT	p.R300R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Silent_p.R300R|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	300	MVP 6.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GGCAGAAGCGCGTGGTCAAGG	0.617													T	29848270	C	T	29848270	2	4	189	1	0	0	0	0	0	0	0	1	9996	755	27	1		1	MVP	16	29848270	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	17231	29848270	60506483	3820	101677											
MVP	9961	broad.mit.edu	37	chr16	29853294	29853294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagttcacagtgttgTccctctcagctgggcggccc	13	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:29853294T>C	uc002dui.2	+	10	1579	c.1495T>C	c.(1495-1497)TCC>CCC	p.S499P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.S499P|MVP_uc010vea.1_Missense_Mutation_p.S93P	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	499	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CACAGTGTTGTCCCTCTCAGC	0.647													C	29853294	T	C	29853294	3	2	189	1	0	0	0	0	1	0	0	0	9996	1667	58	3	1529	3	MVP	16	29853294	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5024	29853294	60501459	3821	101678											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884676	29884676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcgcagagactcgccCgcctggtagtggtgcttgta	14	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:29884676C>T	uc002duq.3	-	14	2613	c.2373G>A	c.(2371-2373)GCG>GCA	p.A791A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.A721A|SEZ6L2_uc002dur.3_Silent_p.A721A|SEZ6L2_uc002dus.3_Silent_p.A677A|SEZ6L2_uc010vec.1_Silent_p.A791A|SEZ6L2_uc010ved.1_Silent_p.A747A	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	791	Sushi 5.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GAGACTCGCCCGCCTGGTAGT	0.627													T	29884676	C	T	29884676	2	4	189	1	0	0	0	0	0	0	0	1	14144	639	23	1		1	SEZ6L2	16	29884676	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	31382	29884676	60470077	3822	101679											
TAOK2	9344	broad.mit.edu	37	chr16	29999006	29999006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggcggcgtaatccccGcaccacccaacacccattag	8	20	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:29999006G>A	uc002dva.1	+	16	4196	c.3413G>A	c.(3412-3414)CGC>CAC	p.R1138H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R1145H|TAOK2_uc002dvd.1_Missense_Mutation_p.R965H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1138					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			ovary(1)	1						CGTAATCCCCGCACCACCCAA	0.652													A	29999006	G	A	29999006	3	1	189	1	0	0	0	0	1	0	0	0	15545	1087	38	1	3471	1	TAOK2	16	29999006	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	114330	29999006	60355747	3823	101680											
TBX6	6911	broad.mit.edu	37	chr16	30100530	30100530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcaggcagggaacatgcGcctgtgcaagggaggggaca	18	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30100530G>A	uc010veh.1	-	4	415	c.355C>T	c.(355-357)CGC>TGC	p.R119C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.R119C	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	119	T-box.				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGGAACATGCGCCTGTGCAAG	0.642													A	30100530	G	A	30100530	3	1	189	1	0	0	0	0	1	0	0	0	15659	1101	38	1	979	1	TBX6	16	30100530	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	101524	30100530	60254223	3824	101681											
CORO1A	11151	broad.mit.edu	37	chr16	30199327	30199327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgcactatctctccaTgttcagttccaaggagtccc	6	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30199327T>C	uc002dww.2	+	8	1048	c.926T>C	c.(925-927)ATG>ACG	p.M309T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.M309T|CORO1A_uc010bzr.2_Missense_Mutation_p.M309T|CORO1A_uc002dwx.2_Missense_Mutation_p.M203T|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	309	WD 7.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						TATCTCTCCATGTTCAGTTCC	0.582													C	30199327	T	C	30199327	3	2	189	1	0	0	0	0	1	0	0	0	3753	1464	51	3	952	3	CORO1A	16	30199327	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	98797	30199327	60155426	3825	101682											
SEPHS2	22928	broad.mit.edu	37	chr16	30455783	30455783	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaggcaggacttcaatAactcgcggcttgtcaatgat	10	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30455783A>G	uc010ves.1	-	2	1442	c.1266T>C	c.(1264-1266)GTT>GTC	p.V422V	SEPHS2_uc002dyh.1_Silent_p.V365V|SEPHS2_uc010vet.1_Silent_p.V304V	NM_012248	NP_036380	Q99611	SPS2_HUMAN	selenophosphate synthetase 2	422					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(2)	2						GGACTTCAATAACTCGCGGCT	0.522													G	30455783	A	G	30455783	2	3	189	1	0	0	0	0	0	0	0	1	14055	349	13	3		3	SEPHS2	16	30455783	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	256456	30455783	59898970	3826	101683											
ITGAL	3683	broad.mit.edu	37	chr16	30507448	30507448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtctcagagctgcagGgggaccccggctacccactc	12	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30507448G>T	uc002dyi.3	+	14	1710	c.1534G>T	c.(1534-1536)GGG>TGG	p.G512W	ITGAL_uc002dyj.3_Missense_Mutation_p.G429W|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	512	FG-GAP 6.|Extracellular (Potential).				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			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	AGAGCTGCAGGGGGACCCCGG	0.572													T	30507448	G	T	30507448	3	4	189	1	0	0	0	0	1	0	0	0	7886	1232	43	5	1588	5	ITGAL	16	30507448	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	51665	30507448	59847305	3827	101684											
ITGAL	3683	broad.mit.edu	37	chr16	30528333	30528334	+	Frame_Shift_Ins	INS	-	-	A													ccacgaccacaacatacccaINSccctggaggctgtggttggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30528332_30528333C>CA	uc002dyi.4	+	25	3077_3078	c.2901_2902C>CA	c.(2899-2904)cccaccfs	p.P967fs	ITGAL_uc002dyj.4_Frame_Shift_Ins_p.P883fs|ITGAL_uc010vev.2_Frame_Shift_Ins_p.P201fs	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	967					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.P967P(2)		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)	ACAACATACCCACCCTGGAGGC	0.639													A	30528334	-	A	30528333	7	5	189	1	0	1	1	0	0	0	0	0	7886	159	6	0	3004	0	ITGAL	16	30528333	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	20885	30528333	59826420	3828	101685											
SRCAP	10847	broad.mit.edu	37	chr16	30723629	30723629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggccagctccgggagtAccagcacattgggctagact	15	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30723629A>G	uc002dze.1	+	13	2247	c.1862A>G	c.(1861-1863)TAC>TGC	p.Y621C	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Y478C|SRCAP_uc010bzz.1_Missense_Mutation_p.Y191C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	621					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTCCGGGAGTACCAGCACATT	0.512													G	30723629	A	G	30723629	3	3	189	1	0	0	0	0	1	0	0	0	15134	391	14	3	1904	3	SRCAP	16	30723629	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	195296	30723629	59631124	3829	101686											
SRCAP	10847	broad.mit.edu	37	chr16	30734392	30734392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccagcaccccggcctcCgagctctgggcttccagctg	12	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30734392C>T	uc002dze.1	+	24	4386	c.4001C>T	c.(4000-4002)CCG>CTG	p.P1334L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P1129L|SRCAP_uc010bzz.1_Missense_Mutation_p.P904L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1334	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCCCGGCCTCCGAGCTCTGGG	0.602													T	30734392	C	T	30734392	3	4	189	1	0	0	0	0	1	0	0	0	15134	652	23	1	4087	1	SRCAP	16	30734392	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10763	30734392	59620361	3830	101687											
SETD1A	9739	broad.mit.edu	37	chr16	30975497	30975497	+	Frame_Shift_Del	DEL	C	C	-													gggcactcctggcaacggcaCcccctgctcccaggacacaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:30975496_30975496AC>A	uc002ead.1	+	5	1407	c.721_721AC>A	c.(721-723)accfs	p.T241fs	SETD1A_uc002eae.1_Frame_Shift_Del_p.T241fs	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein 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						TGGCAACGGCACCCCCTGCTC	0.632													-	30975497	C	-	30975497	7	5	189	1	0	1	0	1	0	0	0	0	14130	507	18	0	740	0	SETD1A	16	30975497	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	241105	30975497	59379256	3831	101688											
STX1B	112755	broad.mit.edu	37	chr16	31012272	31012272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttggaccgaaccttgTtggccgtcttcttgatgtct	9	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:31012272T>G	uc010cad.2	-	4	369	c.257A>C	c.(256-258)AAC>ACC	p.N86T	STX1B_uc010vfd.1_Missense_Mutation_p.N86T	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	86	Potential.|Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0						CCGAACCTTGTTGGCCGTCTT	0.517													G	31012272	T	G	31012272	3	3	189	1	0	0	0	0	1	0	0	0	15343	1725	60	5	637	5	STX1B	16	31012272	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	36775	31012272	59342481	3832	101689											
ZNF668	79759	broad.mit.edu	37	chr16	31073349	31073349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcaccccttcatgggcGcgctggtggcgacggaagct	15	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:31073349G>A	uc010caf.2	-	3	1257	c.900C>T	c.(898-900)CGC>CGT	p.R300R	ZNF668_uc002eao.2_Silent_p.R300R	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	300	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						CTTCATGGGCGCGCTGGTGGC	0.692													A	31073349	G	A	31073349	2	1	189	1	0	0	0	0	0	0	0	1	18072	1074	38	1		1	ZNF668	16	31073349	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	61077	31073349	59281404	3833	101690											
FUS	2521	broad.mit.edu	37	chr16	31202336	31202336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggctatgatcgaggCggctaccggggccgcggcgg	20	10	0	2	rs112061837		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:31202336C>T	uc002ebf.2	+	14	1529	c.1446C>T	c.(1444-1446)GGC>GGT	p.G482G	FUS_uc002ebh.2_Silent_p.G481G|FUS_uc002ebg.2_Silent_p.G277G|FUS_uc002ebi.2_Silent_p.G483G|FUS_uc002ebj.2_Silent_p.G278G	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	482	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGATCGAGGCGGCTACCGGG	0.602			T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma								T	31202336	C	T	31202336	2	4	189	1	0	0	0	0	0	0	0	1	6100	755	27	1		1	FUS	16	31202336	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	128987	31202336	59152417	3834	101691											
PYDC1	260434	broad.mit.edu	37	chr16	31228272	31228272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcggcaccgtccccagCttcatcttgaacttcttgag	9	15	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:31228272C>T	uc002ebo.2	-	1	127	c.78G>A	c.(76-78)AAG>AAA	p.K26K	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	26	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				0						CCGTCCCCAGCTTCATCTTGA	0.647													T	31228272	C	T	31228272	2	4	189	1	0	0	0	0	0	0	0	1	12858	796	28	2		2	PYDC1	16	31228272	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	25936	31228272	59126481	3835	101692											
ITGAM	3684	broad.mit.edu	37	chr16	31288050	31288050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtctcaggaaggcttcagCgctgccatcacctctgtaag	10	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:31288050C>T	uc002ebq.2	+	10	1166	c.1068C>T	c.(1066-1068)AGC>AGT	p.S356S	ITGAM_uc002ebr.2_Silent_p.S356S|ITGAM_uc010cam.1_Silent_p.S7S	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	356	FG-GAP 3.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						AAGGCTTCAGCGCTGCCATCA	0.488													T	31288050	C	T	31288050	2	4	189	1	0	0	0	0	0	0	0	1	7887	767	27	1		1	ITGAM	16	31288050	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	59778	31288050	59066703	3836	101693											
ITGAD	3681	broad.mit.edu	37	chr16	31422138	31422138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagcataccgggaaggCtgtcatcttcacccaggtgt	10	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:31422138C>T	uc002ebv.1	+	12	1344	c.1295C>T	c.(1294-1296)GCT>GTT	p.A432V	ITGAD_uc010cap.1_Missense_Mutation_p.A432V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	432	FG-GAP 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						ACCGGGAAGGCTGTCATCTTC	0.642													T	31422138	C	T	31422138	3	4	189	1	0	0	0	0	1	0	0	0	7884	797	28	2	1341	2	ITGAD	16	31422138	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	134088	31422138	58932615	3837	101694											
TGFB1I1	7041	broad.mit.edu	37	chr16	31488739	31488739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtgcgccacgtgtggcCtccctgtgaccggccgctgc	14	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:31488739C>T	uc002ecd.1	+	11	1254	c.1228C>T	c.(1228-1230)CTC>TTC	p.L410F	TGFB1I1_uc002ece.1_Missense_Mutation_p.L393F|TGFB1I1_uc010caq.1_Missense_Mutation_p.L249F	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	410	LIM zinc-binding 4.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						CACGTGTGGCCTCCCTGTGAC	0.692													T	31488739	C	T	31488739	3	4	189	1	0	0	0	0	1	0	0	0	15814	681	24	4	1270	4	TGFB1I1	16	31488739	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	66601	31488739	58866014	3838	101695											
ABCC12	94160	broad.mit.edu	37	chr16	48174690	48174690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaccggatggccgtgcGgtagttgatggcccaggcaa	14	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:48174690G>A	uc002efc.1	-	4	911	c.565C>T	c.(565-567)CGC>TGC	p.R189C	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.R189C|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	189	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGGCCGTGCGGTAGTTGATG	0.527													A	48174690	G	A	48174690	3	1	189	1	0	0	0	0	1	0	0	0	52	1116	39	1	3618	1	ABCC12	16	48174690	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	16685951	48174690	42180063	3839	101696											
SIAH1	6477	broad.mit.edu	37	chr16	48396053	48396053	+	Frame_Shift_Del	DEL	A	A	-													aagacgcatatttacaggggAaaagtactgaattagccact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:48396053delA	uc002efo.1	-	2	404	c.287delT	c.(286-288)TTCfs	p.F96fs	uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Frame_Shift_Del_p.F127fs	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	seven in absentia homolog 1 isoform a	96	SIAH-type.|SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TTTACAGGGGAAAAGTACTGA	0.478													-	48396053	A	-	48396053	7	5	189	1	0	1	0	1	0	0	0	0	14299	246	9	0	565	0	SIAH1	16	48396053	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	221363	48396053	41958700	3840	101697											
N4BP1	9683	broad.mit.edu	37	chr16	48576961	48576961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggtttctgcagaagatcTctgagctggcatgggcaggt	15	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:48576961T>C	uc002efp.2	-	7	2782	c.2545A>G	c.(2545-2547)AGA>GGA	p.R849G		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	849					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GCAGAAGATCTCTGAGCTGGC	0.582													C	48576961	T	C	48576961	3	2	189	1	0	0	0	0	1	0	0	0	10109	1559	54	3	149	3	N4BP1	16	48576961	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	180908	48576961	41777792	3841	101698											
N4BP1	9683	broad.mit.edu	37	chr16	48580154	48580154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtcccccacgaacgtgTactgcagcagcctacaacac	7	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:48580154T>C	uc002efp.2	-	6	2474	c.2237A>G	c.(2236-2238)TAC>TGC	p.Y746C		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	746					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				CACGAACGTGTACTGCAGCAG	0.522													C	48580154	T	C	48580154	3	2	189	1	0	0	0	0	1	0	0	0	10109	1638	57	3	461	3	N4BP1	16	48580154	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3193	48580154	41774599	3842	101699											
N4BP1	9683	broad.mit.edu	37	chr16	48596113	48596113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattctttctgactactgggTaggttctctttattttcaaa	7	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:48596113T>C	uc002efp.2	-	2	678	c.441A>G	c.(439-441)CTA>CTG	p.L147L		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	147					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GACTACTGGGTAGGTTCTCTT	0.408													C	48596113	T	C	48596113	2	2	189	1	0	0	0	0	0	0	0	1	10109	1625	57	3		3	N4BP1	16	48596113	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	15959	48596113	41758640	3843	101700											
CBLN1	869	broad.mit.edu	37	chr16	49313496	49313496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatcaccggccacccgTttagcatgaggctcacctga	9	14	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:49313496T>C	uc002efq.2	-	3	740	c.401A>G	c.(400-402)AAC>AGC	p.N134S		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	134	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				CGGCCACCCGTTTAGCATGAG	0.617													C	49313496	T	C	49313496	3	2	189	1	0	0	0	0	1	0	0	0	2704	1725	60	3	184	3	CBLN1	16	49313496	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	717383	49313496	41041257	3844	101701											
C16orf78	123970	broad.mit.edu	37	chr16	49430466	49430466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggcaaccttcataagagActggtccaacaagatgcctg	11	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:49430466A>G	uc002efr.2	+	4	570	c.527A>G	c.(526-528)GAC>GGC	p.D176G		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	176										central_nervous_system(1)	1						TTCATAAGAGACTGGTCCAAC	0.488													G	49430466	A	G	49430466	3	3	189	1	0	0	0	0	1	0	0	0	1835	275	10	3	541	3	C16orf78	16	49430466	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	116970	49430466	40924287	3845	101702											
HEATR3	55027	broad.mit.edu	37	chr16	50112751	50112751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttttgggaatggatgCtggtgaaatggttattcaaa	13	2	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50112751C>T	uc002efw.2	+	7	1025	c.863C>T	c.(862-864)GCT>GTT	p.A288V	HEATR3_uc002efx.2_Missense_Mutation_p.A202V	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	288							binding			ovary(1)|skin(1)	2						GGAATGGATGCTGGTGAAATG	0.378													T	50112751	C	T	50112751	3	4	189	1	0	0	0	0	1	0	0	0	7029	797	28	2	889	2	HEATR3	16	50112751	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	682285	50112751	40242002	3846	101703											
PAPD5	64282	broad.mit.edu	37	chr16	50263114	50263114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggcttccaaggtacaActcaaacaagccatggttcc	8	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50263114A>G	uc010vgo.1	+	13	2007	c.1972A>G	c.(1972-1974)ACT>GCT	p.T658A	PAPD5_uc010cbi.2_Intron|PAPD5_uc002efz.2_Missense_Mutation_p.T402A|PAPD5_uc002ega.2_Missense_Mutation_p.T449A	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	532					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		CCAAGGTACAACTCAAACAAG	0.428													G	50263114	A	G	50263114	3	3	189	1	0	0	0	0	1	0	0	0	11425	43	2	3	2022	3	PAPD5	16	50263114	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	150363	50263114	40091639	3847	101704											
ADCY7	113	broad.mit.edu	37	chr16	50347896	50347896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcccaagttcagcggcGtggagaagatcaagaccatc	12	10	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50347896G>A	uc002egd.1	+	22	3047	c.2779G>A	c.(2779-2781)GTG>ATG	p.V927M		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	927	Cytoplasmic (Potential).|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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GTTCAGCGGCGTGGAGAAGAT	0.607													A	50347896	G	A	50347896	3	1	189	1	0	0	0	0	1	0	0	0	299	1145	40	1	2865	1	ADCY7	16	50347896	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	84782	50347896	40006857	3848	101705											
BRD7	29117	broad.mit.edu	37	chr16	50354660	50354660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagtactggagtccaaaCgccctggtggctctacttct	10	12	2	1	rs143187051	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50354660C>T	uc002egf.1	-	15	1593	c.1526G>A	c.(1525-1527)CGT>CAT	p.R509H	BRD7_uc002ege.1_Missense_Mutation_p.R510H	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	509					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				GGAGTCCAAACGCCCTGGTGG	0.443													T	50354660	C	T	50354660	3	4	189	1	0	0	0	0	1	0	0	0	1505	536	19	1	445	1	BRD7	16	50354660	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6764	50354660	40000093	3849	101706											
NKD1	85407	broad.mit.edu	37	chr16	50659415	50659415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagctccagtgcgacgtgtCcatggaggaggacagccggc	17	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50659415C>T	uc002egg.1	+	6	610	c.386C>T	c.(385-387)TCC>TTC	p.S129F		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	129	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGCGACGTGTCCATGGAGGAG	0.612													T	50659415	C	T	50659415	3	4	189	1	0	0	0	0	1	0	0	0	10441	855	30	4	408	4	NKD1	16	50659415	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	304755	50659415	39695338	3850	101707											
SNX20	124460	broad.mit.edu	37	chr16	50707743	50707743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggaactcccgggagcgGcgcacgcagcggatggcgta	16	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50707743G>A	uc002egk.2	-	4	698	c.525C>T	c.(523-525)CGC>CGT	p.R175R	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	175	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						CCCGGGAGCGGCGCACGCAGC	0.701													A	50707743	G	A	50707743	2	1	189	1	0	0	0	0	0	0	0	1	14892	1190	42	2		2	SNX20	16	50707743	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	48328	50707743	39647010	3851	101708											
CYLD	1540	broad.mit.edu	37	chr16	50783754	50783754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagggaagtataggacagTatattcaagatcgttctgtg	12	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50783754T>C	uc002egp.1	+	4	560	c.145T>C	c.(145-147)TAT>CAT	p.Y49H	CYLD_uc002egn.1_Missense_Mutation_p.Y49H|CYLD_uc002ego.2_Missense_Mutation_p.Y49H|CYLD_uc010cbs.1_Missense_Mutation_p.Y49H|CYLD_uc002egq.1_Missense_Mutation_p.Y49H|CYLD_uc002egr.1_Missense_Mutation_p.Y49H|CYLD_uc002egs.1_Missense_Mutation_p.Y49H	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	49					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			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				TATAGGACAGTATATTCAAGA	0.398			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				C	50783754	T	C	50783754	3	2	189	1	0	0	0	0	1	0	0	0	4143	1638	57	3	147	3	CYLD	16	50783754	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	76011	50783754	39570999	3852	101709											
CYLD	1540	broad.mit.edu	37	chr16	50788337	50788337	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaatgatatcatcccaggTatgttttctttgttttatac	5	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:50788337T>C	uc002egp.1	+	6	1328	c.913_splice	c.e6+2	p.A305_splice	CYLD_uc002egn.1_Splice_Site_p.E305_splice|CYLD_uc002ego.2_Splice_Site_p.E305_splice|CYLD_uc010cbs.1_Splice_Site_p.E305_splice|CYLD_uc002egq.1_Splice_Site_p.E305_splice|CYLD_uc002egr.1_Splice_Site_p.E305_splice|CYLD_uc002egs.1_Splice_Site_p.E305_splice	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD						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			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				TCATCCCAGGTATGTTTTCTT	0.244			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				C	50788337	T	C	50788337	5	2	189	1	0	0	0	0	0	0	1	0	4143	1652	57	3	925	3	CYLD	16	50788337	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4583	50788337	39566416	3853	101710											
SALL1	6299	broad.mit.edu	37	chr16	51173803	51173803	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcaggaccacagcgTtcgtgaacttcttctggcag	12	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:51173803T>C	uc010vgs.1	-	2	2361	c.2330A>G	c.(2329-2331)AAC>AGC	p.N777S	SALL1_uc010vgr.1_Missense_Mutation_p.N680S|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	777	C2H2-type 5.				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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GACCACAGCGTTCGTGAACTT	0.557													C	51173803	T	C	51173803	3	2	189	1	0	0	0	0	1	0	0	0	13810	1725	60	3	1652	3	SALL1	16	51173803	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	385466	51173803	39180950	3854	101711											
SALL1	6299	broad.mit.edu	37	chr16	51174322	51174322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggagcccacctaggTttcttgtggctgactcaggg	13	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:51174322T>C	uc010vgs.1	-	2	1842	c.1811A>G	c.(1810-1812)AAC>AGC	p.N604S	SALL1_uc010vgr.1_Missense_Mutation_p.N507S|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	604					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCACCTAGGTTTCTTGTGGC	0.622													C	51174322	T	C	51174322	3	2	189	1	0	0	0	0	1	0	0	0	13810	1725	60	3	2171	3	SALL1	16	51174322	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	519	51174322	39180431	3855	101712											
CHD9	80205	broad.mit.edu	37	chr16	53190246	53190246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaataaaatttcaccatgTtaatcaatcttttggtagcc	4	8	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:53190246T>C	uc002ehb.2	+	1	409	c.245T>C	c.(244-246)GTT>GCT	p.V82A	CHD9_uc002egy.2_Missense_Mutation_p.V82A|CHD9_uc002egz.1_Missense_Mutation_p.V82A|CHD9_uc002eha.1_Missense_Mutation_p.V82A|CHD9_uc002ehc.2_Missense_Mutation_p.V82A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	82					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTTCACCATGTTAATCAATCT	0.363													C	53190246	T	C	53190246	3	2	189	1	0	0	0	0	1	0	0	0	3332	1725	60	3	247	3	CHD9	16	53190246	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2015924	53190246	37164507	3856	101713											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730184	53730184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacactgcctggcgagactTcattgtccgtgttgttgaag	12	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:53730184T>C	uc002ehp.2	-	3	173	c.109A>G	c.(109-111)AAG>GAG	p.K37E	RPGRIP1L_uc002eho.3_Missense_Mutation_p.K37E|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.K37E|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.K37E|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.K37E|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.K37E|RPGRIP1L_uc010cby.1_Missense_Mutation_p.K37E	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	37					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				TGGCGAGACTTCATTGTCCGT	0.383													C	53730184	T	C	53730184	3	2	189	1	0	0	0	0	1	0	0	0	13550	1792	62	3	3938	3	RPGRIP1L	16	53730184	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	539938	53730184	36624569	3857	101714											
IRX5	10265	broad.mit.edu	37	chr16	54965177	54965177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctctactcgtgcccggcgTacagcaccagcgtcatttcg	10	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:54965177T>C	uc002ehv.2	+	1	67	c.67T>C	c.(67-69)TAC>CAC	p.Y23H	uc010vhb.1_5'Flank|uc010vhc.1_5'Flank|uc002ehu.1_5'Flank|IRX5_uc010cca.1_Missense_Mutation_p.Y23H|IRX5_uc002ehw.2_5'Flank	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	23					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						GTGCCCGGCGTACAGCACCAG	0.612													C	54965177	T	C	54965177	3	2	189	1	0	0	0	0	1	0	0	0	7847	1638	57	3	69	3	IRX5	16	54965177	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1234993	54965177	35389576	3858	101715											
IRX5	10265	broad.mit.edu	37	chr16	54966639	54966639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatgaccctcacccaggTgtccacctggttcgccaacg	9	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:54966639T>C	uc002ehv.2	+	2	479	c.479T>C	c.(478-480)GTG>GCG	p.V160A	IRX5_uc010cca.1_Missense_Mutation_p.V212A|IRX5_uc002ehw.2_Missense_Mutation_p.V94A	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	160	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CTCACCCAGGTGTCCACCTGG	0.607													C	54966639	T	C	54966639	3	2	189	1	0	0	0	0	1	0	0	0	7847	1696	59	3	485	3	IRX5	16	54966639	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1462	54966639	35388114	3859	101716											
IRX5	10265	broad.mit.edu	37	chr16	54967711	54967711	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctaaagacccgaaaatgTtgcggagccagtctcagcta	11	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:54967711T>C	uc002ehv.2	+	3	1378	c.1378T>C	c.(1378-1380)TTG>CTG	p.L460L	IRX5_uc002ehw.2_Silent_p.L394L	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	460					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CCCGAAAATGTTGCGGAGCCA	0.552													C	54967711	T	C	54967711	2	2	189	1	0	0	0	0	0	0	0	1	7847	1722	60	3		3	IRX5	16	54967711	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1072	54967711	35387042	3860	101717											
BBS2	583	broad.mit.edu	37	chr16	56533690	56533690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaaagcgagatactcacCctctgtgcccgttctgcaat	9	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:56533690C>T	uc002ejd.2	-	12	1761	c.1527G>A	c.(1525-1527)AGG>AGA	p.R509R	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	509					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			ovary(1)	1						AGATACTCACCCTCTGTGCCC	0.418									Bardet-Biedl_syndrome				T	56533690	C	T	56533690	2	4	189	1	0	0	0	0	0	0	0	1	1338	637	22	4		4	BBS2	16	56533690	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1565979	56533690	33821063	3861	101718											
NLRC5	84166	broad.mit.edu	37	chr16	57059448	57059448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggccattatgggggAcgtcaaggtggaagatggtg	21	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:57059448A>G	uc002ekk.1	+	6	818	c.593A>G	c.(592-594)GAC>GGC	p.D198G	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.D3G|NLRC5_uc002ekl.2_Missense_Mutation_p.D3G|NLRC5_uc002ekm.2_Missense_Mutation_p.D3G|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	198					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				ATTATGGGGGACGTCAAGGTG	0.622													G	57059448	A	G	57059448	3	3	189	1	0	0	0	0	1	0	0	0	10470	275	10	3	607	3	NLRC5	16	57059448	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	525758	57059448	33295305	3862	101719											
C16orf57	79650	broad.mit.edu	37	chr16	58036471	58036471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgaggaggggcctgaagatGacagcacaaaacacggggga	16	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:58036471G>A	uc002emz.2	+	2	270	c.187G>A	c.(187-189)GAC>AAC	p.D63N	ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.D63N|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.D63N|C16orf57_uc010vic.1_Missense_Mutation_p.D12N	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	63											0						GCCTGAAGATGACAGCACAAA	0.582													A	58036471	G	A	58036471	3	1	189	1	0	0	0	0	1	0	0	0	1821	1290	45	4	193	4	C16orf57	16	58036471	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	977023	58036471	32318282	3863	101720											
PRSS54	221191	broad.mit.edu	37	chr16	58324986	58324986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaactccatgctgctgaccAagccctccttggggtcagga	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:58324986A>G	uc002enf.2	-	4	535	c.140T>C	c.(139-141)TTG>TCG	p.L47S	PRSS54_uc002eng.2_Missense_Mutation_p.L47S|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	47	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GCTGCTGACCAAGCCCTCCTT	0.627													G	58324986	A	G	58324986	3	3	189	1	0	0	0	0	1	0	0	0	12633	131	5	3	1063	3	PRSS54	16	58324986	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	288515	58324986	32029767	3864	101721											
CNOT1	23019	broad.mit.edu	37	chr16	58555205	58555205	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcctatttacaatcaAccgttccaagagaactctgg	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:58555205A>G	uc002env.2	-	48	7227	c.6934T>C	c.(6934-6936)TTG>CTG	p.L2312L	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L2307L|CNOT1_uc002ent.2_Silent_p.L250L|CNOT1_uc010vik.1_Silent_p.L1269L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2312					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTACAATCAACCGTTCCAAG	0.358													G	58555205	A	G	58555205	2	3	189	1	0	0	0	0	0	0	0	1	3617	40	2	3		3	CNOT1	16	58555205	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	230219	58555205	31799548	3865	101722											
CNOT1	23019	broad.mit.edu	37	chr16	58559097	58559097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaccctcagtgtccaagTccacagccaaattctggaag	7	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:58559097T>C	uc002env.2	-	46	7063	c.6770A>G	c.(6769-6771)GAC>GGC	p.D2257G	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.D2252G|CNOT1_uc002ent.2_Missense_Mutation_p.D195G|CNOT1_uc010vik.1_Missense_Mutation_p.D1214G	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2257					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGTGTCCAAGTCCACAGCCAA	0.463													C	58559097	T	C	58559097	3	2	189	1	0	0	0	0	1	0	0	0	3617	1667	58	3	376	3	CNOT1	16	58559097	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3892	58559097	31795656	3866	101723											
CNOT1	23019	broad.mit.edu	37	chr16	58614646	58614646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctctggatttataagggAatgttgaatgaaggagagct	13	3	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:58614646A>G	uc002env.2	-	12	1527	c.1234T>C	c.(1234-1236)TCC>CCC	p.S412P	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S412P|CNOT1_uc002enx.2_Missense_Mutation_p.S412P|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	412					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTATAAGGGAATGTTGAATG	0.373													G	58614646	A	G	58614646	3	3	189	1	0	0	0	0	1	0	0	0	3617	246	9	3	6270	3	CNOT1	16	58614646	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	55549	58614646	31740107	3867	101724											
CDH8	1006	broad.mit.edu	37	chr16	61851550	61851550	+	Frame_Shift_Del	DEL	C	C	-													gtcgccgtgtctttaaagggCcccctgccactgaagcgtgg					rs80346989		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:61851549_61851549GC>G	uc002eog.2	-	6	2066	c.1111_1111GC>C	c.(1111-1113)cccfs	p.P371fs	CDH8_uc002eoh.3_Frame_Shift_Del_p.P140fs	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	371	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTTAAAGGGCCCCCTGCCA	0.473													-	61851550	C	-	61851550	7	5	189	1	0	1	0	1	0	0	0	0	3116	726	26	0	1313	0	CDH8	16	61851550	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	3236904	61851550	28503203	3868	101725											
CDH16	1014	broad.mit.edu	37	chr16	66943186	66943186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctattgctaccagggtGcctacaaggatgcccactgc	9	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:66943186G>A	uc002eql.2	-	17	2449	c.2376C>T	c.(2374-2376)GGC>GGT	p.G792G	CDH16_uc010cdy.2_Silent_p.G770G|CDH16_uc002eqm.2_Silent_p.G695G	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	792	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTACCAGGGTGCCTACAAGGA	0.592													A	66943186	G	A	66943186	2	1	189	1	0	0	0	0	0	0	0	1	3101	1306	46	2		2	CDH16	16	66943186	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5091636	66943186	23411567	3869	101726											
PLEKHG4	25894	broad.mit.edu	37	chr16	67315670	67315670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgacccacatcccaaCggcggggctgcccacttcgc	10	19	0	1	rs148286913		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67315670C>T	uc002eso.3	+	6	3470	c.935C>T	c.(934-936)ACG>ATG	p.T312M	PLEKHG4_uc002esp.3_Missense_Mutation_p.T119M|PLEKHG4_uc002esq.3_Missense_Mutation_p.T312M|PLEKHG4_uc010cef.2_Missense_Mutation_p.T312M|PLEKHG4_uc002ess.3_Missense_Mutation_p.T312M|PLEKHG4_uc010ceg.2_Missense_Mutation_p.T231M	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	312					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CACATCCCAACGGCGGGGCTG	0.642													T	67315670	C	T	67315670	3	4	189	1	0	0	0	0	1	0	0	0	12071	536	19	1	957	1	PLEKHG4	16	67315670	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	372484	67315670	23039083	3870	101727											
PLEKHG4	25894	broad.mit.edu	37	chr16	67320682	67320682	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaacaggggcagctggtgCgacaggatgagtttgtggtg	19	5	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67320682C>T	uc002eso.3	+	16	5320	c.2785C>T	c.(2785-2787)CGA>TGA	p.R929*	PLEKHG4_uc002esp.3_Nonsense_Mutation_p.R736*|PLEKHG4_uc002esq.3_Nonsense_Mutation_p.R929*|PLEKHG4_uc010cef.2_Nonsense_Mutation_p.R929*|PLEKHG4_uc002ess.3_Nonsense_Mutation_p.R929*|PLEKHG4_uc010ceg.2_Nonsense_Mutation_p.R848*	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	929	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCAGCTGGTGCGACAGGATGA	0.612													T	67320682	C	T	67320682	4	4	189	1	0	0	0	0	0	1	0	0	12071	760	27	1	2847	1	PLEKHG4	16	67320682	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5012	67320682	23034071	3871	101728											
HSD11B2	3291	broad.mit.edu	37	chr16	67470813	67470813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcactgtctgcctcgagcActgcagcctggccagcctgg	12	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67470813A>G	uc002etd.2	+	5	1241	c.1125A>G	c.(1123-1125)GCA>GCG	p.A375A		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	375					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	TGCCTCGAGCACTGCAGCCTG	0.647													G	67470813	A	G	67470813	2	3	189	1	0	0	0	0	0	0	0	1	7377	146	6	3		3	HSD11B2	16	67470813	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	150131	67470813	22883940	3872	101729											
CTCF	10664	broad.mit.edu	37	chr16	67662300	67662300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgatcatgcacaagcgcAcccacaccggggagaagcct	10	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67662300A>G	uc002etl.2	+	9	1836	c.1546A>G	c.(1546-1548)ACC>GCC	p.T516A	CTCF_uc010cek.2_Missense_Mutation_p.T188A|CTCF_uc002etm.1_Missense_Mutation_p.T5A	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	516	C2H2-type 9.				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			ovary(1)	1		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)		GCACAAGCGCACCCACACCGG	0.592													G	67662300	A	G	67662300	3	3	189	1	0	0	0	0	1	0	0	0	4000	159	6	3	1572	3	CTCF	16	67662300	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	191487	67662300	22692453	3873	101730											
RLTPR	146206	broad.mit.edu	37	chr16	67683765	67683765	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgctggacgtggcgcAggcgctggagcagaaccaca	17	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67683765A>T	uc002etn.2	+	21	2096	c.1976A>T	c.(1975-1977)CAG>CTG	p.Q659L	RLTPR_uc010cel.1_Missense_Mutation_p.Q652L|RLTPR_uc010vjr.1_Missense_Mutation_p.Q623L	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	659	Tropomodulin-like.|LRR 15.									breast(1)	1		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)		GACGTGGCGCAGGCGCTGGAG	0.672													T	67683765	A	T	67683765	3	4	189	1	0	0	0	0	1	0	0	0	13394	188	7	5	2058	5	RLTPR	16	67683765	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	21465	67683765	22670988	3874	101731											
RLTPR	146206	broad.mit.edu	37	chr16	67683871	67683871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcacgtgcagtccatcaGgtgggcgtccccctcttccc	10	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67683871G>A	uc002etn.2	+	21	2202	c.2082G>A	c.(2080-2082)CAG>CAA	p.Q694Q	RLTPR_uc010cel.1_Silent_p.Q687Q|RLTPR_uc010vjr.1_Silent_p.Q658Q	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	694										breast(1)	1		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)		CAGTCCATCAGGTGGGCGTCC	0.622													A	67683871	G	A	67683871	2	1	189	1	0	0	0	0	0	0	0	1	13394	1014	35	4		4	RLTPR	16	67683871	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	106	67683871	22670882	3875	101732											
ACD	65057	broad.mit.edu	37	chr16	67694161	67694161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggatgcaacgggcccgggTttcccgcgggcgcccaggcc	17	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67694161T>C	uc002etq.3	-	1	558	c.221A>G	c.(220-222)AAC>AGC	p.N74S	ACD_uc002etp.3_Missense_Mutation_p.N74S|ACD_uc002etr.3_Missense_Mutation_p.N74S|ACD_uc010vjt.1_Missense_Mutation_p.N64S|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	74					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			pancreas(1)	1		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)		CGGGCCCGGGTTTCCCGCGGG	0.716													C	67694161	T	C	67694161	3	2	189	1	0	0	0	0	1	0	0	0	135	1725	60	3	1461	3	ACD	16	67694161	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10290	67694161	22660592	3876	101733											
C16orf48	84080	broad.mit.edu	37	chr16	67697558	67697558	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcgggcagtgagacctActaatgtggcacatggccct	13	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67697558A>G	uc002etw.1	-	5	1026	c.743_splice	c.e5+1	p.Y248_splice	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Splice_Site_p.Y130_splice|C16orf48_uc010cem.1_Intron	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080							microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGTGAGACCTACTAATGTGGC	0.597													G	67697558	A	G	67697558	5	3	189	1	0	0	0	0	0	0	1	0	1816	405	14	3	307	3	C16orf48	16	67697558	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3397	67697558	22657195	3877	101734											
RANBP10	57610	broad.mit.edu	37	chr16	67763602	67763602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgttgtgcatgtgggaActactggggccatgtcgggg	17	8	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67763602A>G	uc002eud.2	-	9	1244	c.1128T>C	c.(1126-1128)AGT>AGC	p.S376S	RANBP10_uc010ceo.2_Silent_p.S147S|RANBP10_uc010vju.1_Silent_p.S320S|RANBP10_uc010vjv.1_Silent_p.S259S|RANBP10_uc010vjw.1_Silent_p.S37S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	376	Ser-rich.									ovary(1)	1		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)		GCATGTGGGAACTACTGGGGC	0.622													G	67763602	A	G	67763602	2	3	189	1	0	0	0	0	0	0	0	1	13026	40	2	3		3	RANBP10	16	67763602	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	66044	67763602	22591151	3878	101735											
NUTF2	10204	broad.mit.edu	37	chr16	67902272	67902272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccttacgtgggaaggAcaacagttccaggggaaagc	13	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67902272A>G	uc002eup.2	+	3	228	c.129A>G	c.(127-129)GGA>GGG	p.G43G	NUTF2_uc010vkf.1_Silent_p.G43G|NUTF2_uc002euq.3_5'Flank	NM_005796	NP_005787	P61970	NTF2_HUMAN	nuclear transport factor 2	43	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CGTGGGAAGGACAACAGTTCC	0.537													G	67902272	A	G	67902272	2	3	189	1	0	0	0	0	0	0	0	1	10779	262	10	3		3	NUTF2	16	67902272	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	138670	67902272	22452481	3879	101736											
PSMB10	5699	broad.mit.edu	37	chr16	67968770	67968770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtctttgtgatcacacatgCgtccacattgcccccggagc	9	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67968770C>A	uc002eux.1	-	7	741	c.640G>T	c.(640-642)GCA>TCA	p.A214S		NM_002801	NP_002792	P40306	PSB10_HUMAN	proteasome beta 10 subunit proprotein	214					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|humoral immune response|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				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		ATCACACATGCGTCCACATTG	0.642													A	67968770	C	A	67968770	3	1	189	1	0	0	0	0	1	0	0	0	12675	768	27	5	189	5	PSMB10	16	67968770	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	66498	67968770	22385983	3880	101737											
SLC12A4	6560	broad.mit.edu	37	chr16	67991804	67991804	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgccaggacactcacacaAcagcagcagataagcacgat	8	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:67991804A>G	uc002euz.2	-	4	627	c.486T>C	c.(484-486)TGT>TGC	p.C162C	SLC12A4_uc010ceu.2_Silent_p.C156C|SLC12A4_uc010vkh.1_Silent_p.C131C|SLC12A4_uc010vki.1_Silent_p.C162C|SLC12A4_uc010vkj.1_Silent_p.C164C|SLC12A4_uc002eva.2_Silent_p.C162C|SLC12A4_uc002evb.2_Intron|SLC12A4_uc010cew.1_Silent_p.C45C	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	162	Helical; (Potential).|Poly-Cys.				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		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)	CACTCACACAACAGCAGCAGA	0.632													G	67991804	A	G	67991804	2	3	189	1	0	0	0	0	0	0	0	1	14385	41	2	3		3	SLC12A4	16	67991804	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23034	67991804	22362949	3881	101738											
DUS2L	54920	broad.mit.edu	37	chr16	68110607	68110607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagggagaagttggcacaGcctgtgtatgaaacggtgag	17	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68110607G>A	uc002evi.2	+	15	1304	c.1155G>A	c.(1153-1155)CAG>CAA	p.Q385Q	DUS2L_uc002evj.2_Silent_p.Q385Q|DUS2L_uc010vkk.1_Silent_p.Q350Q|DUS2L_uc010cez.2_Silent_p.Q298Q	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	385	DRBM.				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGTTGGCACAGCCTGTGTATG	0.582													A	68110607	G	A	68110607	2	1	189	1	0	0	0	0	0	0	0	1	4806	962	34	2		2	DUS2L	16	68110607	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	118803	68110607	22244146	3882	101739											
ESRP2	80004	broad.mit.edu	37	chr16	68266489	68266489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacacccacctggccacgTtgagccctttgaagaagcga	10	15	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68266489T>C	uc010cfa.1	-	7	1030	c.842A>G	c.(841-843)AAC>AGC	p.N281S	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.N271S	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	281	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						CCTGGCCACGTTGAGCCCTTT	0.617													C	68266489	T	C	68266489	3	2	189	1	0	0	0	0	1	0	0	0	5259	1725	60	3	1377	3	ESRP2	16	68266489	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	155882	68266489	22088264	3883	101740											
PRMT7	54496	broad.mit.edu	37	chr16	68373316	68373316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacaagctatttcccaTccacgtgcagaccagcctcg	9	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68373316T>C	uc002evy.1	+	8	872	c.596T>C	c.(595-597)ATC>ACC	p.I199T	PRMT7_uc002evx.1_Missense_Mutation_p.I199T|PRMT7_uc010vlg.1_Missense_Mutation_p.I149T|PRMT7_uc002evz.1_Missense_Mutation_p.I45T	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	199					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				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTATTTCCCATCCACGTGCAG	0.582													C	68373316	T	C	68373316	3	2	189	1	0	0	0	0	1	0	0	0	12541	1435	50	3	618	3	PRMT7	16	68373316	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	106827	68373316	21981437	3884	101741											
PRMT7	54496	broad.mit.edu	37	chr16	68380154	68380154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcaatgaccaggacagaActgatcgatacgtccaggct	10	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68380154A>G	uc002evy.1	+	11	1438	c.1162A>G	c.(1162-1164)ACT>GCT	p.T388A	PRMT7_uc002evx.1_Missense_Mutation_p.T388A|PRMT7_uc010vlg.1_Missense_Mutation_p.T338A|PRMT7_uc002evz.1_Missense_Mutation_p.T234A	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	388					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				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCAGGACAGAACTGATCGATA	0.557													G	68380154	A	G	68380154	3	3	189	1	0	0	0	0	1	0	0	0	12541	43	2	3	1196	3	PRMT7	16	68380154	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6838	68380154	21974599	3885	101742											
SMPD3	55512	broad.mit.edu	37	chr16	68405595	68405595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaattttgatctggggccGggcggccccattgcggattc	14	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68405595G>A	uc002ewa.2	-	3	912	c.490C>T	c.(490-492)CGG>TGG	p.R164W	SMPD3_uc010cfe.2_Missense_Mutation_p.R164W|SMPD3_uc010vlh.1_Missense_Mutation_p.R164W	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	164	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ATCTGGGGCCGGGCGGCCCCA	0.622													A	68405595	G	A	68405595	3	1	189	1	0	0	0	0	1	0	0	0	14806	1115	39	1	1505	1	SMPD3	16	68405595	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	25441	68405595	21949158	3886	101743											
CDH3	1001	broad.mit.edu	37	chr16	68719188	68719188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgtgggcaccctcgAccgtgaggatgagcagtttg	14	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68719188A>G	uc002ewf.2	+	11	2637	c.1505A>G	c.(1504-1506)GAC>GGC	p.D502G	CDH3_uc010vli.1_Missense_Mutation_p.D447G	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	502	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGCACCCTCGACCGTGAGGAT	0.572													G	68719188	A	G	68719188	3	3	189	1	0	0	0	0	1	0	0	0	3111	275	10	3	1547	3	CDH3	16	68719188	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	313593	68719188	21635565	3887	101744											
TMCO7	79613	broad.mit.edu	37	chr16	68894021	68894021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgaaggaaaccatgaTccgccttgcagctaatttca	9	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68894021T>C	uc002ewi.3	+	2	341	c.329T>C	c.(328-330)ATC>ACC	p.I110T	TMCO7_uc002ewh.2_Missense_Mutation_p.I110T	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	110						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GAAACCATGATCCGCCTTGCA	0.473													C	68894021	T	C	68894021	3	2	189	1	0	0	0	0	1	0	0	0	15998	1435	50	3	335	3	TMCO7	16	68894021	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	174833	68894021	21460732	3888	101745											
TMCO7	79613	broad.mit.edu	37	chr16	68894252	68894252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgtggtgtgttttgatgCtgcccccgatgcaactcgaa	12	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:68894252C>T	uc002ewi.3	+	2	572	c.560C>T	c.(559-561)GCT>GTT	p.A187V	TMCO7_uc002ewh.2_Missense_Mutation_p.A187V	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	187						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TGTTTTGATGCTGCCCCCGAT	0.512													T	68894252	C	T	68894252	3	4	189	1	0	0	0	0	1	0	0	0	15998	797	28	2	566	2	TMCO7	16	68894252	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	231	68894252	21460501	3889	101746											
TMCO7	79613	broad.mit.edu	37	chr16	69008054	69008054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcggggaagtccttatgcGaatcgtcagggcattaggtg	15	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:69008054G>A	uc002ewi.3	+	15	2837	c.2825G>A	c.(2824-2826)CGA>CAA	p.R942Q		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	942						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		GTCCTTATGCGAATCGTCAGG	0.473													A	69008054	G	A	69008054	3	1	189	1	0	0	0	0	1	0	0	0	15998	1058	37	1	2883	1	TMCO7	16	69008054	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	113802	69008054	21346699	3890	101747											
TMED6	146456	broad.mit.edu	37	chr16	69385573	69385573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggctggtccccagagccActtagaggttctgtcttctg	12	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:69385573A>G	uc002exc.1	-	1	117	c.84T>C	c.(82-84)AGT>AGC	p.S28S		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	28	Lumenal (Potential).				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						CCCCAGAGCCACTTAGAGGTT	0.552													G	69385573	A	G	69385573	2	3	189	1	0	0	0	0	0	0	0	1	16005	156	6	3		3	TMED6	16	69385573	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	377519	69385573	20969180	3891	101748											
TERF2	7014	broad.mit.edu	37	chr16	69419639	69419639	+	Frame_Shift_Del	DEL	C	C	-													ccgcgccgcgctccgccgggCcccccagccccggctcgtgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:69419639delC	uc002exd.2	-	1	235	c.110delG	c.(109-111)GGCfs	p.G37fs	TERF2_uc002exe.2_Frame_Shift_Del_p.G37fs	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	37					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			lung(1)	1		Ovarian(137;0.101)				ctccgccgggccccccagccc	0.463													-	69419639	C	-	69419639	7	5	189	1	0	1	0	1	0	0	0	0	15759	739	26	0	1432	0	TERF2	16	69419639	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	34066	69419639	20935114	3892	101749											
NFAT5	10725	broad.mit.edu	37	chr16	69729043	69729043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgtctctgcagactgTagtcagcttttaacctctgg	8	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:69729043T>C	uc002exm.1	+	13	5573	c.4365T>C	c.(4363-4365)TGT>TGC	p.C1455C	NFAT5_uc002exi.2_Silent_p.C1379C|NFAT5_uc002exj.1_Silent_p.C1379C|NFAT5_uc002exk.1_Silent_p.C1379C|NFAT5_uc002exl.1_Silent_p.C1473C|NFAT5_uc002exn.1_Silent_p.C1472C|NFAT5_uc002exo.1_Intron	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1455					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGCAGACTGTAGTCAGCTTT	0.428													C	69729043	T	C	69729043	2	2	189	1	0	0	0	0	0	0	0	1	10360	1644	57	3		3	NFAT5	16	69729043	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	309404	69729043	20625710	3893	101750											
NQO1	1728	broad.mit.edu	37	chr16	69752360	69752360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcctttcttcttcaaagCcgctgcagcagcctccttca	5	17	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:69752360C>T	uc002exp.2	-	2	276	c.85G>A	c.(85-87)GCT>ACT	p.A29T	NQO1_uc010cfm.2_Missense_Mutation_p.A8T|NQO1_uc002exq.2_Missense_Mutation_p.A29T|NQO1_uc002exr.2_Missense_Mutation_p.A29T|NQO1_uc010vll.1_Missense_Mutation_p.A29T	NM_000903	NP_000894	P15559	NQO1_HUMAN	NAD(P)H menadione oxidoreductase 1,	29					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity				0					Dicumarol(DB00266)|Menadione(DB00170)	TTCTTCAAAGCCGCTGCAGCA	0.512													T	69752360	C	T	69752360	3	4	189	1	0	0	0	0	1	0	0	0	10611	739	26	2	759	2	NQO1	16	69752360	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23317	69752360	20602393	3894	101751											
WWP2	11060	broad.mit.edu	37	chr16	69971539	69971539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaagaacagcaagcagaTccagtggttctggcaggtgg	13	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:69971539T>A	uc002exu.1	+	22	2416	c.2327T>A	c.(2326-2328)ATC>AAC	p.I776N	WWP2_uc002exv.1_Missense_Mutation_p.I776N|WWP2_uc010vlm.1_Missense_Mutation_p.I660N|WWP2_uc010vln.1_Missense_Mutation_p.I394N|WWP2_uc002exw.1_Missense_Mutation_p.I337N	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	776	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			lung(3)|ovary(1)|breast(1)|skin(1)	6						AGCAAGCAGATCCAGTGGTTC	0.607													A	69971539	T	A	69971539	3	1	189	1	0	0	0	0	1	0	0	0	17413	1435	50	5	2409	5	WWP2	16	69971539	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	219179	69971539	20383214	3895	101752											
IL34	146433	broad.mit.edu	37	chr16	70690978	70690978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacccatcctggaagtaccTgcaggaggtggagacgctgc	13	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:70690978T>C	uc002ezh.1	+	4	739	c.356T>C	c.(355-357)CTG>CCG	p.L119P	IL34_uc002ezi.1_Missense_Mutation_p.L118P	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	119					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						TGGAAGTACCTGCAGGAGGTG	0.622													C	70690978	T	C	70690978	3	2	189	1	0	0	0	0	1	0	0	0	7694	1580	55	3	370	3	IL34	16	70690978	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	719439	70690978	19663775	3896	101753											
HYDIN	54768	broad.mit.edu	37	chr16	71127727	71127727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctagtgcttacctcataaCaatgtgcagatccagtgaaa	7	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:71127727C>T	uc002ezr.2	-	11	1567	c.1439G>A	c.(1438-1440)TGT>TAT	p.C480Y	HYDIN_uc010cfz.1_Missense_Mutation_p.C225Y|HYDIN_uc002ezv.2_Missense_Mutation_p.C480Y|HYDIN_uc010vmc.1_Missense_Mutation_p.C497Y|HYDIN_uc010vmd.1_Missense_Mutation_p.C507Y|HYDIN_uc002ezw.3_Missense_Mutation_p.C497Y	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	480										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TACCTCATAACAATGTGCAGA	0.393													T	71127727	C	T	71127727	3	4	189	1	0	0	0	0	1	0	0	0	7467	478	17	4	14239	4	HYDIN	16	71127727	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	436749	71127727	19227026	3897	101754											
HYDIN	54768	broad.mit.edu	37	chr16	71218773	71218773	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagagagcagctaccttctGatgtgttgtttcccccatat	8	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:71218773G>A	uc002ezr.2	-	3	384	c.256C>T	c.(256-258)CAG>TAG	p.Q86*	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Nonsense_Mutation_p.Q86*|HYDIN_uc010vmc.1_Nonsense_Mutation_p.Q103*|HYDIN_uc010vmd.1_Nonsense_Mutation_p.Q113*|HYDIN_uc002ezw.3_Nonsense_Mutation_p.Q103*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	86										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GCTACCTTCTGATGTGTTGTT	0.443													A	71218773	G	A	71218773	4	1	189	1	0	0	0	0	0	1	0	0	7467	1299	45	4	15454	4	HYDIN	16	71218773	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	91046	71218773	19135980	3898	101755											
FTSJD1	55783	broad.mit.edu	37	chr16	71317627	71317627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaatcaagcagggcccCcttaaggagtacctccattg	8	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:71317627C>T	uc010cga.2	-	3	2603	c.2197G>A	c.(2197-2199)GGG>AGG	p.G733R	FTSJD1_uc002ezy.3_Missense_Mutation_p.G733R|FTSJD1_uc002ezz.3_Missense_Mutation_p.G733R	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	733						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						AGCAGGGCCCCCTTAAGGAGT	0.423													T	71317627	C	T	71317627	3	4	189	1	0	0	0	0	1	0	0	0	6090	623	22	4	119	4	FTSJD1	16	71317627	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	98854	71317627	19037126	3899	101756											
CHST4	10164	broad.mit.edu	37	chr16	71570605	71570605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgcctaaaaaaatgaagCtcctgctgtttctggtttcc	7	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:71570605C>T	uc002fan.2	+	2	206	c.25C>T	c.(25-27)CTC>TTC	p.L9F	CHST4_uc002fao.2_Missense_Mutation_p.L9F	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	9	Helical; Signal-anchor for type II membrane protein; (Potential).				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				0						AAAAATGAAGCTCCTGCTGTT	0.473													T	71570605	C	T	71570605	3	4	189	1	0	0	0	0	1	0	0	0	3406	797	28	2	27	2	CHST4	16	71570605	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	252978	71570605	18784148	3900	101757											
TAT	6898	broad.mit.edu	37	chr16	71609922	71609922	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtttccaaacacagtAgggtcccctttttatgggag	12	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:71609922A>G	uc002fap.2	-	3	342	c.243T>C	c.(241-243)CCT>CCC	p.P81P	TAT_uc002faq.2_Silent_p.P81P|TAT_uc002far.2_Missense_Mutation_p.Y133H	NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	81					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CAAACACAGTAGGGTCCCCTT	0.493													G	71609922	A	G	71609922	2	3	189	1	0	0	0	0	0	0	0	1	15587	407	15	3		3	TAT	16	71609922	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	39317	71609922	18744831	3901	101758											
AP1G1	164	broad.mit.edu	37	chr16	71799413	71799413	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaaaggggtcactgatAccagaaacatcatgttctgg	10	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:71799413A>G	uc010cgg.2	-	7	1031	c.717T>C	c.(715-717)GGT>GGC	p.G239G	AP1G1_uc002fba.2_Silent_p.G242G|AP1G1_uc002fbb.2_Silent_p.G262G|AP1G1_uc010vmg.1_RNA	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	239					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			ovary(2)	2		Ovarian(137;0.125)				GGTCACTGATACCAGAAACAT	0.348													G	71799413	A	G	71799413	2	3	189	1	0	0	0	0	0	0	0	1	732	378	14	3		3	AP1G1	16	71799413	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	189491	71799413	18555340	3902	101759											
DHX38	9785	broad.mit.edu	37	chr16	72130232	72130232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggcttccctgaaacGgagagagcgagaggagaagg	16	8	0	4	rs150592983	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:72130232G>A	uc002fcb.2	+	2	531	c.176G>A	c.(175-177)CGG>CAG	p.R59Q	TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.2_5'Flank|TXNL4B_uc010vmn.1_5'Flank|TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Missense_Mutation_p.R59Q|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	59					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			skin(1)	1		Ovarian(137;0.125)				TCCCTGAAACGGAGAGAGCGA	0.547													A	72130232	G	A	72130232	3	1	189	1	0	0	0	0	1	0	0	0	4511	1116	39	1	178	1	DHX38	16	72130232	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	330819	72130232	18224521	3903	101760											
ZFHX3	463	broad.mit.edu	37	chr16	72828908	72828908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgggggtggatgaactggTtctgcgcgctcaggaagtgg	18	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:72828908T>C	uc002fck.2	-	9	8346	c.7673A>G	c.(7672-7674)AAC>AGC	p.N2558S	ZFHX3_uc002fcl.2_Missense_Mutation_p.N1644S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2558					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GATGAACTGGTTCTGCGCGCT	0.552													C	72828908	T	C	72828908	3	2	189	1	0	0	0	0	1	0	0	0	17631	1725	60	3	3446	3	ZFHX3	16	72828908	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	698676	72828908	17525845	3904	101761											
ZFHX3	463	broad.mit.edu	37	chr16	72829585	72829585	+	Frame_Shift_Del	DEL	T	T	-													cgctgaaacaccaggctacaTtttttgcactggtagttcaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:72829584_72829584AT>A	uc002fck.3	-	8	7670	c.6997_6997AT>T	c.(6997-6999)tgtfs	p.C2333fs	ZFHX3_uc002fcl.3_Frame_Shift_Del_p.C1419fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2333					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)				ACCAGGCTACATTTTTTGCAC	0.458													-	72829585	T	-	72829585	7	5	189	1	0	1	0	1	0	0	0	0	17631	1490	52	0	4123	0	ZFHX3	16	72829585	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	677	72829585	17525168	3905	101762											
ZFHX3	463	broad.mit.edu	37	chr16	72830804	72830804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatggaaggctcagaaCcaccccctggtgccaactct	11	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:72830804C>T	uc002fck.2	-	9	6450	c.5777G>A	c.(5776-5778)GGT>GAT	p.G1926D	ZFHX3_uc002fcl.2_Missense_Mutation_p.G1012D	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1926					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AGGCTCAGAACCACCCCCTGG	0.587													T	72830804	C	T	72830804	3	4	189	1	0	0	0	0	1	0	0	0	17631	507	18	4	5342	4	ZFHX3	16	72830804	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1219	72830804	17523949	3906	101763											
ZFHX3	463	broad.mit.edu	37	chr16	72830903	72830904	+	Frame_Shift_Del	DEL	CT	CT	-													ctcccccctcggcgctgtccCtctctctctggctttctttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:72830902_72830903CCT>C	uc002fck.3	-	8	6351_6352	c.5678_5679AGG>G	c.(5677-5679)aggfs	p.R1893fs	ZFHX3_uc002fcl.3_Frame_Shift_Del_p.R979fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1893					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)				CGGCGCTGTCCCTCTCTCTCTG	0.54													-	72830904	CT	-	72830903	7	5	189	1	0	1	0	1	0	0	0	0	17631	681	24	0	5441	0	ZFHX3	16	72830903	Frame_Shift_Del	DEL	CT	TCGA-CG-5721-01A-11D-1600-08	99	72830903	17523850	3907	101764											
ZFHX3	463	broad.mit.edu	37	chr16	72923801	72923801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggtggagtagttgcAcagaacgcagtggtagtagc	16	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:72923801A>G	uc002fck.2	-	4	3950	c.3277T>C	c.(3277-3279)TGC>CGC	p.C1093R	ZFHX3_uc002fcl.2_Missense_Mutation_p.C179R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1093	C2H2-type 9; atypical.				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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GAGTAGTTGCACAGAACGCAG	0.547													G	72923801	A	G	72923801	3	3	189	1	0	0	0	0	1	0	0	0	17631	159	6	3	7862	3	ZFHX3	16	72923801	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	92898	72923801	17430952	3908	101765											
FA2H	79152	broad.mit.edu	37	chr16	74752943	74752943	+	Frame_Shift_Del	DEL	G	G	-													atgaggtaatagctgtcgctGgggggcttcatgtggaacag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:74752942_74752942TG>T	uc002fde.2	-	4	806	c.730_730CA>A	c.(730-732)agcfs	p.S244fs	FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	244					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						TAGCTGTCGCTGGGGGGCTTC	0.617													-	74752943	G	-	74752943	7	5	189	1	0	1	0	1	0	0	0	0	5352	1335	47	0	401	0	FA2H	16	74752943	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1829142	74752943	15601810	3909	101766											
BCAR1	9564	broad.mit.edu	37	chr16	75269317	75269318	+	Frame_Shift_Ins	INS	-	-	G													agcggctcctgtggctcagaINSggggctacgccagctcccag					rs3206884		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:75269317_75269318insG	uc002fdv.2	-	5	1602_1603	c.1479_1480insC	c.(1477-1482)CCCTCTfs	p.P493fs	BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Frame_Shift_Ins_p.P283fs|BCAR1_uc010cgu.2_Frame_Shift_Ins_p.P482fs|BCAR1_uc010vna.1_Frame_Shift_Ins_p.P491fs|BCAR1_uc010vnb.1_Frame_Shift_Ins_p.P539fs|BCAR1_uc002fdw.2_Frame_Shift_Ins_p.P493fs|BCAR1_uc010vnc.1_Frame_Shift_Ins_p.P345fs|BCAR1_uc010vnd.1_Frame_Shift_Ins_p.P511fs|BCAR1_uc002fdx.2_Frame_Shift_Ins_p.P511fs	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	493_494	Ser-rich.				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			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTGGCTCAGAGGGGCTACGCC	0.703													G	75269318	-	G	75269317	7	5	189	1	0	1	1	0	0	0	0	0	1348	304	11	0	1144	0	BCAR1	16	75269317	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	516374	75269317	15085436	3910	101767											
ADAT1	23536	broad.mit.edu	37	chr16	75651057	75651057	+	Frame_Shift_Del	DEL	A	A	-													tacagggtgtatggctggagAaaaacacaaaaatgaggtct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:75651056_75651056GA>G	uc002feo.2	-	5	577	c.408_408TC>C	c.(406-408)ttcfs	p.F136fs	ADAT1_uc002fep.2_5'UTR	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	136	A to I editase.				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TATGGCTGGAGAAAAACACAA	0.398													-	75651057	A	-	75651057	7	5	189	1	0	1	0	1	0	0	0	0	284	246	9	0	1125	0	ADAT1	16	75651057	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	381740	75651057	14703696	3911	101768											
WWOX	51741	broad.mit.edu	37	chr16	78466543	78466543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccccacgcggggtcaCgtcgaacgcagtgcatcctg	11	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:78466543C>T	uc002ffk.2	+	8	1075	c.950C>T	c.(949-951)ACG>ATG	p.T317M	WWOX_uc010vnk.1_Missense_Mutation_p.T204M|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	317	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				0		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)		CGCGGGGTCACGTCGAACGCA	0.537													T	78466543	C	T	78466543	3	4	189	1	0	0	0	0	1	0	0	0	17411	536	19	1	1042	1	WWOX	16	78466543	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2815486	78466543	11888210	3912	101769											
CENPN	55839	broad.mit.edu	37	chr16	81051433	81051434	+	Frame_Shift_Ins	INS	-	-	A													aaattcttcagagagcattaINSaaaaatgtaagaataaaatt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:81051432_81051433T>TA	uc002ffy.4	+	4	1137_1138	c.347_348T>TA	c.(346-348)ttafs	p.L116fs	CENPN_uc002ffw.4_Frame_Shift_Ins_p.L116fs|CENPN_uc002ffx.2_Frame_Shift_Ins_p.L116fs|CENPN_uc010vnl.1_Frame_Shift_Ins_p.L116fs|CENPN_uc010vnm.1_Frame_Shift_Ins_p.L96fs	NM_001100625	NP_001094095	Q96H22	CENPN_HUMAN	Homo sapiens centromere protein N (CENPN), transcript variant 1, mRNA.	116					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						CAGAGAGCATTAAAAAATGTAA	0.243													A	81051434	-	A	81051433	7	5	189	1	0	1	1	0	0	0	0	0	3238	359	13	0	362	0	CENPN	16	81051433	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	2584890	81051433	9303320	3913	101770											
ATMIN	23300	broad.mit.edu	37	chr16	81077032	81077032	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttaaactacccgtgatgcAgttttctgtcatgcctgtct	9	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:81077032A>C	uc002ffz.1	+	4	947	c.929A>C	c.(928-930)CAG>CCG	p.Q310P	ATMIN_uc002fga.2_Missense_Mutation_p.Q152P|ATMIN_uc010vnn.1_Missense_Mutation_p.Q81P|ATMIN_uc002fgb.1_Missense_Mutation_p.Q152P	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	310	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding				0						CCCGTGATGCAGTTTTCTGTC	0.502													C	81077032	A	C	81077032	3	2	189	1	0	0	0	0	1	0	0	0	1110	188	7	5	943	5	ATMIN	16	81077032	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	25599	81077032	9277721	3914	101771											
ATMIN	23300	broad.mit.edu	37	chr16	81078356	81078356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccactgctaaaaatatAcctgctctagaaagcaaagt	6	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:81078356A>G	uc002ffz.1	+	4	2271	c.2253A>G	c.(2251-2253)ATA>ATG	p.I751M	ATMIN_uc002fga.2_Missense_Mutation_p.I593M|ATMIN_uc010vnn.1_Missense_Mutation_p.I522M|ATMIN_uc002fgb.1_Missense_Mutation_p.I593M	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	751					response to DNA damage stimulus	nucleus	zinc ion binding				0						CTAAAAATATACCTGCTCTAG	0.448													G	81078356	A	G	81078356	3	3	189	1	0	0	0	0	1	0	0	0	1110	381	14	3	2267	3	ATMIN	16	81078356	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1324	81078356	9276397	3915	101772											
PKD1L2	114780	broad.mit.edu	37	chr16	81161381	81161381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttgacgtgctttggCgatcagtccccaaggggacc	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:81161381C>T	uc002fgh.1	-	38	6335	c.6335G>A	c.(6334-6336)CGC>CAC	p.R2112H	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2112	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CGTGCTTTGGCGATCAGTCCC	0.517													T	81161381	C	T	81161381	3	4	189	1	0	0	0	0	1	0	0	0	11965	768	27	1	1076	1	PKD1L2	16	81161381	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	83025	81161381	9193372	3916	101773											
GAN	8139	broad.mit.edu	37	chr16	81411130	81411130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatgtgcagccttacgcAttgcgaattgcaagcttttc	10	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:81411130A>G	uc002fgo.2	+	11	1871	c.1723A>G	c.(1723-1725)ATT>GTT	p.I575V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	575					cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				AGCCTTACGCATTGCGAATTG	0.522													G	81411130	A	G	81411130	3	3	189	1	0	0	0	0	1	0	0	0	6232	217	8	3	1765	3	GAN	16	81411130	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	249749	81411130	8943623	3917	101774											
CMIP	80790	broad.mit.edu	37	chr16	81733390	81733390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggcactgagggggaAccagaccatggtggaggtaa	16	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:81733390A>G	uc002fgp.2	+	15	1811	c.1739A>G	c.(1738-1740)AAC>AGC	p.N580S	CMIP_uc002fgq.1_Missense_Mutation_p.N486S|CMIP_uc010vnq.1_Missense_Mutation_p.N393S|CMIP_uc002fgr.1_Missense_Mutation_p.N427S	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	546						cytoplasm|nucleus					0						CTGAGGGGGAACCAGACCATG	0.607													G	81733390	A	G	81733390	3	3	189	1	0	0	0	0	1	0	0	0	3578	43	2	3	1819	3	CMIP	16	81733390	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	322260	81733390	8621363	3918	101775											
PLCG2	5336	broad.mit.edu	37	chr16	81819728	81819728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcggagaaccgtccaggTgatcatggagacgcggcagg	17	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:81819728T>C	uc002fgt.2	+	2	286	c.134T>C	c.(133-135)GTG>GCG	p.V45A	PLCG2_uc010chg.1_Missense_Mutation_p.V45A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	45	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						ACCGTCCAGGTGATCATGGAG	0.612													C	81819728	T	C	81819728	3	2	189	1	0	0	0	0	1	0	0	0	12036	1696	59	3	136	3	PLCG2	16	81819728	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	86338	81819728	8535025	3919	101776											
CDH13	1012	broad.mit.edu	37	chr16	83817018	83817018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtggactgcaacgcggCaggggccctgcgcttcagcc	14	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:83817018C>T	uc002fgx.2	+	13	2195	c.2075C>T	c.(2074-2076)GCA>GTA	p.A692V	CDH13_uc010vns.1_Missense_Mutation_p.A739V|CDH13_uc010vnt.1_Missense_Mutation_p.A438V|CDH13_uc010vnu.1_Missense_Mutation_p.A653V	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	692	Cadherin 5.				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)		TGCAACGCGGCAGGGGCCCTG	0.522													T	83817018	C	T	83817018	3	4	189	1	0	0	0	0	1	0	0	0	3099	710	25	2	2125	2	CDH13	16	83817018	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1997290	83817018	6537735	3920	101777											
SLC38A8	146167	broad.mit.edu	37	chr16	84067027	84067027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcgctggtctgcgtAccacggctgcggggcgggcg	20	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:84067027A>G	uc002fhg.1	-	3	436	c.436T>C	c.(436-438)TAC>CAC	p.Y146H		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	146					amino acid transport|sodium ion transport	integral to membrane					0						TGGTCTGCGTACCACGGCTGC	0.642													G	84067027	A	G	84067027	3	3	189	1	0	0	0	0	1	0	0	0	14610	391	14	3	903	3	SLC38A8	16	84067027	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	250009	84067027	6287726	3921	101778											
KIAA1609	57707	broad.mit.edu	37	chr16	84520276	84520276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaagagcaagaggcaaAcccaccgaacacatgcttgt	8	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:84520276A>G	uc002fib.2	-	5	1026	c.919T>C	c.(919-921)TTT>CTT	p.F307L	KIAA1609_uc010vod.1_Missense_Mutation_p.F280L|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	307	TLD.						protein binding			ovary(2)	2						CAAGAGGCAAACCCACCGAAC	0.567													G	84520276	A	G	84520276	3	3	189	1	0	0	0	0	1	0	0	0	8247	43	2	3	467	3	KIAA1609	16	84520276	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	453249	84520276	5834477	3922	101779											
USP10	9100	broad.mit.edu	37	chr16	84778843	84778843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccggggctgattttggtcaGtcctgcttccctgcagaggc	13	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:84778843G>T	uc002fii.2	+	4	898	c.756G>T	c.(754-756)CAG>CAT	p.Q252H	USP10_uc010voe.1_Missense_Mutation_p.Q256H|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	252					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				0						ATTTTGGTCAGTCCTGCTTCC	0.602													T	84778843	G	T	84778843	3	4	189	1	0	0	0	0	1	0	0	0	17038	1020	36	5	770	5	USP10	16	84778843	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	258567	84778843	5575910	3923	101780											
KIAA0182	23199	broad.mit.edu	37	chr16	85689518	85689518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgtctggcctcagcgcGgagaggtaagtgcgtctcga	15	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:85689518G>A	uc002fix.2	+	6	1058	c.984G>A	c.(982-984)GCG>GCA	p.A328A	KIAA0182_uc002fiw.2_Silent_p.A224A|KIAA0182_uc002fiy.2_Silent_p.A255A	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	328	Potential.						protein binding			large_intestine(3)|ovary(1)|skin(1)	5						GCCTCAGCGCGGAGAGGTAAG	0.657													A	85689518	G	A	85689518	2	1	189	1	0	0	0	0	0	0	0	1	8159	1103	39	1		1	KIAA0182	16	85689518	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	910675	85689518	4665235	3924	101781											
JPH3	57338	broad.mit.edu	37	chr16	87678007	87678007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcacaccaacggcacgGcgctgcatcccgacgcctct	11	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:87678007G>A	uc002fkd.2	+	2	780	c.526G>A	c.(526-528)GCG>ACG	p.A176T	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	176	Cytoplasmic (Potential).			A -> P (in Ref. 1; BAB11983).	calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAACGGCACGGCGCTGCATCC	0.711													A	87678007	G	A	87678007	3	1	189	1	0	0	0	0	1	0	0	0	7962	1203	42	2	532	2	JPH3	16	87678007	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1988489	87678007	2676746	3925	101782											
ZFPM1	161882	broad.mit.edu	37	chr16	88599263	88599263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagccacttggtcaccaAccacatggtctgccagcctg	8	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:88599263A>G	uc002fkv.2	+	9	1142	c.1109A>G	c.(1108-1110)AAC>AGC	p.N370S		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	370	C2H2-type 3.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGGTCACCAACCACATGGTC	0.642													G	88599263	A	G	88599263	3	3	189	1	0	0	0	0	1	0	0	0	17654	43	2	3	1143	3	ZFPM1	16	88599263	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	921256	88599263	1755490	3926	101783											
CYBA	1535	broad.mit.edu	37	chr16	88714464	88714464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatacatggagtaggcAccaaagtaccactgggtgaa	13	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:88714464A>G	uc002flb.2	-	2	153	c.117T>C	c.(115-117)GGT>GGC	p.G39G	CYBA_uc002flc.1_5'Flank|CYBA_uc002fld.1_Silent_p.G39G|CYBA_uc010chx.1_Silent_p.G39G	NM_000101	NP_000092	P13498	CY24A_HUMAN	cytochrome b, alpha polypeptide	39					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGGAGTAGGCACCAAAGTACC	0.657													G	88714464	A	G	88714464	2	3	189	1	0	0	0	0	0	0	0	1	4131	146	6	3		3	CYBA	16	88714464	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	115201	88714464	1640289	3927	101784											
MVD	4597	broad.mit.edu	37	chr16	88724403	88724403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatccggtcctcggtgaagTccttgctgatgacggctgtt	12	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:88724403T>C	uc002flg.1	-	3	183	c.176A>G	c.(175-177)GAC>GGC	p.D59G	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	diphosphomevalonate decarboxylase	59					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTCGGTGAAGTCCTTGCTGAT	0.612													C	88724403	T	C	88724403	3	2	189	1	0	0	0	0	1	0	0	0	9994	1667	58	3	1058	3	MVD	16	88724403	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9939	88724403	1630350	3928	101785											
CBFA2T3	863	broad.mit.edu	37	chr16	88951603	88951603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggctgtagcgctgggcaGggttcagggtgcatggccgt	20	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:88951603G>A	uc002fmm.1	-	7	1154	c.968C>T	c.(967-969)CCT>CTT	p.P323L	CBFA2T3_uc002fml.1_Missense_Mutation_p.P237L|CBFA2T3_uc010cif.1_Missense_Mutation_p.P262L|CBFA2T3_uc002fmn.1_Missense_Mutation_p.P298L	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	323	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCGCTGGGCAGGGTTCAGGGT	0.682			T	RUNX1	AML								A	88951603	G	A	88951603	3	1	189	1	0	0	0	0	1	0	0	0	2698	1000	35	4	1017	4	CBFA2T3	16	88951603	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	227200	88951603	1403150	3929	101786											
ANKRD11	29123	broad.mit.edu	37	chr16	89346505	89346505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttccgcttcaccatctgCggcatctttagtctgcaggg	12	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:89346505C>T	uc002fmx.1	-	9	6906	c.6445G>A	c.(6445-6447)GCA>ACA	p.A2149T	ANKRD11_uc002fmy.1_Missense_Mutation_p.A2149T|ANKRD11_uc002fnc.1_Missense_Mutation_p.A2149T|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.A2106T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2149	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TCACCATCTGCGGCATCTTTA	0.657													T	89346505	C	T	89346505	3	4	189	1	0	0	0	0	1	0	0	0	639	768	27	1	1566	1	ANKRD11	16	89346505	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	394902	89346505	1008248	3930	101787											
ANKRD11	29123	broad.mit.edu	37	chr16	89348369	89348369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttctccttcagtttggcAtcgccgagcctcgggccctc	9	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:89348369A>G	uc002fmx.1	-	9	5042	c.4581T>C	c.(4579-4581)GAT>GAC	p.D1527D	ANKRD11_uc002fmy.1_Silent_p.D1527D|ANKRD11_uc002fnc.1_Silent_p.D1527D|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.D1484D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1527	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TCAGTTTGGCATCGCCGAGCC	0.592													G	89348369	A	G	89348369	2	3	189	1	0	0	0	0	0	0	0	1	639	214	8	3		3	ANKRD11	16	89348369	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1864	89348369	1006384	3931	101788											
DPEP1	1800	broad.mit.edu	37	chr16	89703685	89703685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtggccaccatgaaggCcaccctgcagctgtccagag	12	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:89703685C>T	uc010cin.2	+	7	868	c.665C>T	c.(664-666)GCC>GTC	p.A222V	DPEP1_uc002fnr.3_Missense_Mutation_p.A222V|DPEP1_uc002fns.3_Missense_Mutation_p.A222V	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	222					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACCATGAAGGCCACCCTGCAG	0.647													T	89703685	C	T	89703685	3	4	189	1	0	0	0	0	1	0	0	0	4713	739	26	2	687	2	DPEP1	16	89703685	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	355316	89703685	651068	3932	101789											
SPATA2L	124044	broad.mit.edu	37	chr16	89764463	89764463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccccgctggcacgccgtGcctgcagcagctcctcagct	11	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:89764463G>A	uc002foj.2	-	3	619	c.554C>T	c.(553-555)GCA>GTA	p.A185V	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	185											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGCACGCCGTGCCTGCAGCAG	0.726													A	89764463	G	A	89764463	3	1	189	1	0	0	0	0	1	0	0	0	15008	1319	46	2	724	2	SPATA2L	16	89764463	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	60778	89764463	590290	3933	101790											
C16orf7	9605	broad.mit.edu	37	chr16	89778933	89778933	+	Splice_Site	DEL	G	G	-													ccgctgtagagagagggtctGgggggggaggagggagtaag					rs143123169	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr16:89778932_89778932TG>T	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAG	0.667													-	89778933	G	-	89778933	8	5	189	1	0	1	0	1	0	0	1	0	1828	1363	47	0		0	C16orf7	16	89778933	Splice_Site	DEL	G	TCGA-CG-5721-01A-11D-1600-08	14470	89778933	575820	3934	101791											
TUSC5	286753	broad.mit.edu	37	chr17	1183350	1183350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggagccaggctccgccGcattcctggacctgccggag	13	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:1183350G>A	uc002fsi.1	+	1	394	c.55G>A	c.(55-57)GCA>ACA	p.A19T		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	19					response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCTCCGCCGCATTCCTGGA	0.637													A	1183350	G	A	1183350	3	1	189	1	0	0	0	0	1	0	0	0	16776	1087	38	1	57	1	TUSC5	17	1183350	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08		1183350	80011860	3935	101792											
SCARF1	8578	broad.mit.edu	37	chr17	1538649	1538649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggcctgtggactcttcGgcttcccggccctcaggacc	12	16	3	0	rs144909941	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:1538649G>A	uc002fsz.1	-	11	1946	c.1896C>T	c.(1894-1896)GCC>GCT	p.A632A	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.A546A	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	632	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGACTCTTCGGCTTCCCGGC	0.701													A	1538649	G	A	1538649	2	1	189	1	0	0	0	0	0	0	0	1	13883	1103	39	1		1	SCARF1	17	1538649	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	355299	1538649	79656561	3936	101793											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840972	1840972	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacggggatgccctccggGatggctgcaaagttgtgcgc	15	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:1840972G>A	uc002ftp.2	-	2	163	c.144C>T	c.(142-144)ATC>ATT	p.I48I		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	48	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity				0						TGCCCTCCGGGATGGCTGCAA	0.682													A	1840972	G	A	1840972	2	1	189	1	0	0	0	0	0	0	0	1	13731	1164	41	4		4	RTN4RL1	17	1840972	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	302323	1840972	79354238	3937	101794											
RTN4RL1	146760	broad.mit.edu	37	chr17	1841027	1841027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcgccgggtagcacAcacagtcccgtgggcagcca	14	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:1841027A>G	uc002ftp.2	-	2	108	c.89T>C	c.(88-90)GTG>GCG	p.V30A		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	30	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity				0						CGGGTAGCACACACAGTCCCG	0.662													G	1841027	A	G	1841027	3	3	189	1	0	0	0	0	1	0	0	0	13731	159	6	3	1240	3	RTN4RL1	17	1841027	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	55	1841027	79354183	3938	101795											
SMG6	23293	broad.mit.edu	37	chr17	2076067	2076067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggtcatcatccgggTccttgtacagtggcacctca	13	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:2076067T>C	uc002fub.1	-	13	3297	c.3242A>G	c.(3241-3243)GAC>GGC	p.D1081G	SMG6_uc010vqv.1_Missense_Mutation_p.D173G	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	1081					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			central_nervous_system(2)|lung(1)|kidney(1)	4						ATCATCCGGGTCCTTGTACAG	0.537													C	2076067	T	C	2076067	3	2	189	1	0	0	0	0	1	0	0	0	14797	1667	58	3	1045	3	SMG6	17	2076067	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	235040	2076067	79119143	3939	101796											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-													tattatgttttctgtagactAaaaaaagtggtaaacctggg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:2579801_2579801TA>T	uc002fuw.4	+	8	1471	c.903_903TA>T	c.(901-903)actfs	p.T301fs	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	301	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|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						TTCTGTAGACTAAAAAAAGTG	0.358													-	2579802	A	-	2579802	7	5	189	1	0	1	0	1	0	0	0	0	11384	363	13	0	934	0	PAFAH1B1	17	2579802	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	503735	2579802	78615408	3940	101797											
KIAA0664	23277	broad.mit.edu	37	chr17	2604947	2604947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggggacacagtggcCgctcccggctccctggcagg	16	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:2604947C>T	uc002fuy.1	-	5	676	c.590G>A	c.(589-591)CGG>CAG	p.R197Q	KIAA0664_uc002fux.1_Missense_Mutation_p.R129Q	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	197							binding			breast(2)	2						ACACAGTGGCCGCTCCCGGCT	0.667													T	2604947	C	T	2604947	3	4	189	1	0	0	0	0	1	0	0	0	8189	652	23	1	3427	1	KIAA0664	17	2604947	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	25145	2604947	78590263	3941	101798											
OR1D2	4991	broad.mit.edu	37	chr17	2996177	2996177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcacatttcccaccacCgtgaccaggtacatggacag	9	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:2996177C>T	uc010vrb.1	-	1	114	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	38	Helical; Name=1; (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TTCCCACCACCGTGACCAGGT	0.552													T	2996177	C	T	2996177	2	4	189	1	0	0	0	0	0	0	0	1	10953	639	23	1		1	OR1D2	17	2996177	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	391230	2996177	78199033	3942	101799											
OR1A2	26189	broad.mit.edu	37	chr17	3101155	3101155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcagacagctataccTtggctgcaatggcatacgat	10	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:3101155T>C	uc002fvd.1	+	1	343	c.343T>C	c.(343-345)TTG>CTG	p.L115L		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CAGCTATACCTTGGCTGCAAT	0.502													C	3101155	T	C	3101155	2	2	189	1	0	0	0	0	0	0	0	1	10950	1606	56	3		3	OR1A2	17	3101155	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	104978	3101155	78094055	3943	101800											
OR1E1	8387	broad.mit.edu	37	chr17	3301298	3301298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagacagagcatggggctcAtgatggcggtgtagtgcagg	18	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:3301298A>G	uc002fvj.1	-	1	407	c.407T>C	c.(406-408)ATG>ACG	p.M136T		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATGGGGCTCATGATGGCGGT	0.552													G	3301298	A	G	3301298	3	3	189	1	0	0	0	0	1	0	0	0	10954	217	8	3	541	3	OR1E1	17	3301298	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	200143	3301298	77893912	3944	101801											
TRPV3	162514	broad.mit.edu	37	chr17	3424299	3424299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcaaaaacacgatatatAcaaacaagaacttcagaaca	4	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:3424299A>G	uc002fvt.1	-	14	2100	c.1778T>C	c.(1777-1779)GTA>GCA	p.V593A	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.V577A|TRPV3_uc010vri.1_Missense_Mutation_p.V548A|TRPV3_uc010vrj.1_Missense_Mutation_p.V577A|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.V577A|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.V593A|TRPV3_uc002fvu.2_Missense_Mutation_p.V593A|TRPV3_uc010vrn.1_3'UTR	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	593	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CACGATATATACAAACAAGAA	0.328													G	3424299	A	G	3424299	3	3	189	1	0	0	0	0	1	0	0	0	16594	391	14	3	614	3	TRPV3	17	3424299	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	123001	3424299	77770911	3945	101802											
ATP2A3	489	broad.mit.edu	37	chr17	3839611	3839611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccactgatgagggcttctCgggggctccggggcagcttc	16	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:3839611C>T	uc002fxb.1	-	16	2625	c.2474G>A	c.(2473-2475)CGA>CAA	p.R825Q	ATP2A3_uc002fwx.1_Missense_Mutation_p.R825Q|ATP2A3_uc002fwy.1_Missense_Mutation_p.R825Q|ATP2A3_uc002fwz.1_Missense_Mutation_p.R825Q|ATP2A3_uc002fxa.1_Missense_Mutation_p.R825Q|ATP2A3_uc002fxc.1_Missense_Mutation_p.R825Q|ATP2A3_uc002fxd.1_Missense_Mutation_p.R825Q	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	825	Cytoplasmic (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GAGGGCTTCTCGGGGGCTCCG	0.617													T	3839611	C	T	3839611	3	4	189	1	0	0	0	0	1	0	0	0	1138	884	31	1	760	1	ATP2A3	17	3839611	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	415312	3839611	77355599	3946	101803											
ATP2A3	489	broad.mit.edu	37	chr17	3850769	3850769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagggtctccacggaCggcaggcttcgcacgatggc	14	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:3850769C>T	uc002fxb.1	-	8	1162	c.1011G>A	c.(1009-1011)CCG>CCA	p.P337P	ATP2A3_uc002fwx.1_Silent_p.P337P|ATP2A3_uc002fwy.1_Silent_p.P337P|ATP2A3_uc002fwz.1_Silent_p.P337P|ATP2A3_uc002fxa.1_Silent_p.P337P|ATP2A3_uc002fxc.1_Silent_p.P337P|ATP2A3_uc002fxd.1_Silent_p.P337P	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	337	Cytoplasmic (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCTCCACGGACGGCAGGCTTC	0.662													T	3850769	C	T	3850769	2	4	189	1	0	0	0	0	0	0	0	1	1138	523	19	1		1	ATP2A3	17	3850769	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	11158	3850769	77344441	3947	101804											
CYB5D2	124936	broad.mit.edu	37	chr17	4053313	4053314	+	Frame_Shift_Del	DEL	TA	TA	-													tttcattctatgagaagaatTatgtgtgtgttggtaagtcg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:4053312_4053313TTA>T	uc002fxm.4	+	1	966_967	c.378_379TTA>T	c.(376-381)aattatfs	p.N126fs	CYB5D2_uc002fxl.4_Frame_Shift_Del_p.N14fs|CYB5D2_uc010cko.3_Frame_Shift_Del_p.N14fs	NM_144611	NP_001241685	Q8WUJ1	NEUFC_HUMAN	Homo sapiens cytochrome b5 domain containing 2 (CYB5D2), transcript variant 1, mRNA.	126	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						ATGAGAAGAATTATGTGTGTGT	0.46													-	4053314	TA	-	4053313	7	5	189	1	0	1	0	1	0	0	0	0	4125	1754	61	0	385	0	CYB5D2	17	4053313	Frame_Shift_Del	DEL	TA	TCGA-CG-5721-01A-11D-1600-08	202544	4053313	77141897	3948	101805											
ANKFY1	51479	broad.mit.edu	37	chr17	4111302	4111302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggctttatgtagcgggtActctgtcttggatttgatca	12	6	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:4111302A>G	uc002fxq.1	-	6	696	c.658T>C	c.(658-660)TAC>CAC	p.Y220H	ANKFY1_uc002fxn.2_Missense_Mutation_p.Y262H|ANKFY1_uc002fxo.2_Missense_Mutation_p.Y220H|ANKFY1_uc002fxp.2_Missense_Mutation_p.Y220H|ANKFY1_uc010ckp.2_Missense_Mutation_p.Y161H|ANKFY1_uc002fxr.2_Missense_Mutation_p.Y220H	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	220	ANK 1.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TGTAGCGGGTACTCTGTCTTG	0.438													G	4111302	A	G	4111302	3	3	189	1	0	0	0	0	1	0	0	0	626	391	14	3	3026	3	ANKFY1	17	4111302	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	57989	4111302	77083908	3949	101806											
GGT6	124975	broad.mit.edu	37	chr17	4462881	4462881	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgatggcaccgtggtgGtatacgccagggccgtggga	17	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:4462881G>C	uc002fyd.3	-	2	375	c.315C>G	c.(313-315)TAC>TAG	p.Y105*	GGT6_uc010vsb.1_5'UTR|GGT6_uc002fyc.3_Nonsense_Mutation_p.Y105*|GGT6_uc010vsc.1_Nonsense_Mutation_p.Y105*	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	105	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						CACCGTGGTGGTATACGCCAG	0.682													C	4462881	G	C	4462881	4	2	189	1	0	0	0	0	0	1	0	0	6363	1256	44	5	1178	5	GGT6	17	4462881	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	351579	4462881	76732329	3950	101807											
MINK1	50488	broad.mit.edu	37	chr17	4796762	4796762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaagagcggactctggacGaggcccctcggcctcccaag	13	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:4796762G>A	uc010vsl.1	+	21	2630	c.2434G>A	c.(2434-2436)GAG>AAG	p.E812K	MINK1_uc010vsk.1_Missense_Mutation_p.E783K|MINK1_uc010vsm.1_Missense_Mutation_p.E792K|MINK1_uc010vsn.1_Missense_Mutation_p.E775K|MINK1_uc010vso.1_Missense_Mutation_p.E720K|MINK1_uc010vsp.1_Missense_Mutation_p.E273K	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	812					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						GACTCTGGACGAGGCCCCTCG	0.642													A	4796762	G	A	4796762	3	1	189	1	0	0	0	0	1	0	0	0	9587	1059	37	1	2283	1	MINK1	17	4796762	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	333881	4796762	76398448	3951	101808											
KIF1C	10749	broad.mit.edu	37	chr17	4905794	4905794	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctactgtgagcgggtacgAgacctcttgaaccccaagag	11	11	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:4905794A>C	uc002gan.1	+	7	791	c.465A>C	c.(463-465)CGA>CGC	p.R155R		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	155	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						AGCGGGTACGAGACCTCTTGA	0.522													C	4905794	A	C	4905794	2	2	189	1	0	0	0	0	0	0	0	1	8285	291	11	5		5	KIF1C	17	4905794	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	109032	4905794	76289416	3952	101809											
KIF1C	10749	broad.mit.edu	37	chr17	4927012	4927012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctctgggggccggggcGgggggctgcgcaggccccca	22	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:4927012G>A	uc002gan.1	+	23	3204	c.2878G>A	c.(2878-2880)GGG>AGG	p.G960R		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	960				SGGRGGGL -> LWGPGRGV (in Ref. 1; AAC52117).	microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GGGCCGGGGCGGGGGGCTGCG	0.692													A	4927012	G	A	4927012	3	1	189	1	0	0	0	0	1	0	0	0	8285	1116	39	1	2960	1	KIF1C	17	4927012	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	21218	4927012	76268198	3953	101810											
KIF1C	10749	broad.mit.edu	37	chr17	4927266	4927266	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgatcccggggagcgggTtctgcacagcctgaacccca	14	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:4927266T>C	uc002gan.1	+	23	3458	c.3132T>C	c.(3130-3132)GGT>GGC	p.G1044G		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	1044	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GGGGAGCGGGTTCTGCACAGC	0.697													C	4927266	T	C	4927266	2	2	189	1	0	0	0	0	0	0	0	1	8285	1712	60	3		3	KIF1C	17	4927266	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	254	4927266	76267944	3954	101811											
USP6	9098	broad.mit.edu	37	chr17	5058884	5058884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacctcaggaagctagTattcatgcccaggatcggtg	10	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:5058884T>C	uc002gau.1	+	31	5041	c.2811T>C	c.(2809-2811)AGT>AGC	p.S937S	USP6_uc002gav.1_Silent_p.S937S|USP6_uc010ckz.1_Silent_p.S620S	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	937					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			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AGGAAGCTAGTATTCATGCCC	0.438			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								C	5058884	T	C	5058884	2	2	189	1	0	0	0	0	0	0	0	1	17083	1635	57	3		3	USP6	17	5058884	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	131618	5058884	76136326	3955	101812											
C17orf87	388325	broad.mit.edu	37	chr17	5114221	5114221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaccagtgagtatgtagCgggcggctgacttggggctt	15	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:5114221C>T	uc002gbh.2	-	5	346	c.313G>A	c.(313-315)GCT>ACT	p.A105T	uc002gbf.1_Intron|uc002gbg.1_Intron|C17orf87_uc010clb.1_Missense_Mutation_p.A98T	NM_207103	NP_996986	Q6UWF3	CQ087_HUMAN	hypothetical protein LOC388325	105						integral to membrane				ovary(1)	1						GAGTATGTAGCGGGCGGCTGA	0.428													T	5114221	C	T	5114221	3	4	189	1	0	0	0	0	1	0	0	0	1889	768	27	1	128	1	C17orf87	17	5114221	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	55337	5114221	76080989	3956	101813											
RABEP1	9135	broad.mit.edu	37	chr17	5253788	5253788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgacaacaacacaaccagtTaaaacatacgtggcagaagg	9	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:5253788T>C	uc002gbm.3	+	7	1051	c.827T>C	c.(826-828)TTA>TCA	p.L276S	RABEP1_uc010clc.1_Missense_Mutation_p.L269S|RABEP1_uc010cld.1_Missense_Mutation_p.L233S|RABEP1_uc010vsw.1_Missense_Mutation_p.L233S|RABEP1_uc002gbl.3_Missense_Mutation_p.L276S	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	276	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						CACAACCAGTTAAAACATACG	0.438													C	5253788	T	C	5253788	3	2	189	1	0	0	0	0	1	0	0	0	12961	1764	61	3	853	3	RABEP1	17	5253788	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	139567	5253788	75941422	3957	101814											
RABEP1	9135	broad.mit.edu	37	chr17	5264841	5264841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggaaagagcaatcaaggcGatgacaccagaacaagaaga	11	8	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:5264841G>A	uc002gbm.3	+	9	1658	c.1434G>A	c.(1432-1434)GCG>GCA	p.A478A	RABEP1_uc010clc.1_Silent_p.A471A|RABEP1_uc010cld.1_Silent_p.A435A|RABEP1_uc010vsw.1_Silent_p.A435A|RABEP1_uc002gbl.3_Silent_p.A478A|NUP88_uc002gbn.2_RNA	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	478					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						CAATCAAGGCGATGACACCAG	0.488													A	5264841	G	A	5264841	2	1	189	1	0	0	0	0	0	0	0	1	12961	1045	37	1		1	RABEP1	17	5264841	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	11053	5264841	75930369	3958	101815											
KIAA0753	9851	broad.mit.edu	37	chr17	6498335	6498335	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcgaggatcagcatatgcGattttattatatctttgacg	9	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:6498335G>A	uc002gde.3	-	16	2756	c.2397C>T	c.(2395-2397)ATC>ATT	p.I799I	KIAA0753_uc010vtd.1_Silent_p.I255I|KIAA0753_uc010clo.2_Silent_p.I500I|KIAA0753_uc010vte.1_Silent_p.I500I	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	799						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CAGCATATGCGATTTTATTAT	0.254													A	6498335	G	A	6498335	2	1	189	1	0	0	0	0	0	0	0	1	8191	1048	37	1		1	KIAA0753	17	6498335	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1233494	6498335	74696875	3959	101816											
SLC13A5	284111	broad.mit.edu	37	chr17	6606404	6606404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttacacaacctcttccGctcttggtcttcctgctgcc	7	17	3	0	rs142320179		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:6606404G>A	uc002gdj.2	-	5	689	c.601C>T	c.(601-603)CGG>TGG	p.R201W	SLC13A5_uc010vtf.1_Missense_Mutation_p.R201W|SLC13A5_uc010clq.2_Missense_Mutation_p.R158W|SLC13A5_uc002gdk.2_Missense_Mutation_p.R184W|SLC13A5_uc002gdl.1_Missense_Mutation_p.R183W	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	201						integral to membrane	citrate transmembrane transporter activity				0						AACCTCTTCCGCTCTTGGTCT	0.632													A	6606404	G	A	6606404	3	1	189	1	0	0	0	0	1	0	0	0	14395	1086	38	1	1137	1	SLC13A5	17	6606404	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	108069	6606404	74588806	3960	101817											
XAF1	54739	broad.mit.edu	37	chr17	6661451	6661451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcaccctccatgaggctTactgcctgcggttcctggtc	9	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:6661451T>C	uc002gdn.2	+	2	318	c.76T>C	c.(76-78)TAC>CAC	p.Y26H	XAF1_uc010clr.1_Missense_Mutation_p.Y26H|XAF1_uc002gdm.1_5'UTR|XAF1_uc002gdo.2_Missense_Mutation_p.Y26H|XAF1_uc002gdp.2_Silent_p.L3L|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_Silent_p.L3L	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	26	TRAF-type.				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						CCATGAGGCTTACTGCCTGCG	0.493													C	6661451	T	C	6661451	3	2	189	1	0	0	0	0	1	0	0	0	17416	1754	61	3	82	3	XAF1	17	6661451	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	55047	6661451	74533759	3961	101818											
DLG4	1742	broad.mit.edu	37	chr17	7096856	7096856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaagatcatcgttggCgcggtccttggtgggcccaa	16	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7096856C>T	uc002get.3	-	18	2969	c.1768G>A	c.(1768-1770)GCC>ACC	p.A590T	DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.A487T|DLG4_uc010cly.2_Missense_Mutation_p.A544T|DLG4_uc010vto.1_Missense_Mutation_p.A587T	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	547	Guanylate kinase-like.				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			ovary(1)|breast(1)	2						TCATCGTTGGCGCGGTCCTTG	0.612													T	7096856	C	T	7096856	3	4	189	1	0	0	0	0	1	0	0	0	4557	768	27	1	555	1	DLG4	17	7096856	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	435405	7096856	74098354	3962	101819											
EIF5A	1984	broad.mit.edu	37	chr17	7214949	7214949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgttgcaatcaaggccaTggcaaaataactggctccca	9	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7214949T>C	uc010vtv.1	+	5	692	c.455T>C	c.(454-456)ATG>ACG	p.M152T	EIF5A_uc002gfr.2_Missense_Mutation_p.M182T|EIF5A_uc002gft.2_Missense_Mutation_p.M152T|EIF5A_uc002gfu.2_Missense_Mutation_p.M152T	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	152					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				0						ATCAAGGCCATGGCAAAATAA	0.498													C	7214949	T	C	7214949	3	2	189	1	0	0	0	0	1	0	0	0	5041	1464	51	3	563	3	EIF5A	17	7214949	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	118093	7214949	73980261	3963	101820											
TMEM95	339168	broad.mit.edu	37	chr17	7259720	7259720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccctgcaggaagtcaggAtctttgggaagccaagattc	12	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7259720A>G	uc002ggh.1	+	6	446	c.419A>G	c.(418-420)GAT>GGT	p.D140G	TMEM95_uc002ggf.1_Missense_Mutation_p.D148G|TMEM95_uc002ggg.1_Silent_p.G137G	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN	transmembrane protein 95	140	Extracellular (Potential).					integral to membrane					0		Prostate(122;0.173)				GGAAGTCAGGATCTTTGGGAA	0.567											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	7259720	A	G	7259720	3	3	189	1	0	0	0	0	1	0	0	0	16220	333	12	3	465	3	TMEM95	17	7259720	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	44771	7259720	73935490	3964	101821											
PLSCR3	57048	broad.mit.edu	37	chr17	7296194	7296194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgatcggcatcctggatGgagaacttggggaggaaggg	19	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7296194G>A	uc002ggm.1	-	6	794	c.585C>T	c.(583-585)TCC>TCT	p.S195S	PLSCR3_uc002ggl.2_Silent_p.S171S|PLSCR3_uc002ggq.1_Silent_p.S26S|PLSCR3_uc002ggn.1_Silent_p.S195S|PLSCR3_uc002ggo.1_Silent_p.S195S|PLSCR3_uc002ggp.1_Silent_p.S26S|PLSCR3_uc002ggr.1_Silent_p.S195S|PLSCR3_uc010cmg.1_Silent_p.S195S	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	195	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding				0		Prostate(122;0.173)				CATCCTGGATGGAGAACTTGG	0.587													A	7296194	G	A	7296194	2	1	189	1	0	0	0	0	0	0	0	1	12111	1335	47	4		4	PLSCR3	17	7296194	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	36474	7296194	73899016	3965	101822											
POLR2A	5430	broad.mit.edu	37	chr17	7406583	7406583	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatcgggaggtgctcaGggtcatcttcccaactggag	16	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7406583G>T	uc002ghf.3	+	17	3134	c.2900G>T	c.(2899-2901)AGG>ATG	p.R967M		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	967					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			pancreas(1)	1		Prostate(122;0.173)				GAGGTGCTCAGGGTCATCTTC	0.602													T	7406583	G	T	7406583	3	4	189	1	0	0	0	0	1	0	0	0	12214	1000	35	5	2966	5	POLR2A	17	7406583	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	110389	7406583	73788627	3966	101823											
POLR2A	5430	broad.mit.edu	37	chr17	7417203	7417203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcacccacctctcccaagTactcgcctaccagtcccacc	3	21	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7417203T>C	uc002ghf.3	+	29	5854	c.5620T>C	c.(5620-5622)TAC>CAC	p.Y1874H		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1874	41.|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			pancreas(1)	1		Prostate(122;0.173)				CTCTCCCAAGTACTCGCCTAC	0.308													C	7417203	T	C	7417203	3	2	189	1	0	0	0	0	1	0	0	0	12214	1638	57	3	5734	3	POLR2A	17	7417203	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10620	7417203	73778007	3967	101824											
SENP3	26168	broad.mit.edu	37	chr17	7467048	7467048	+	Frame_Shift_Del	DEL	C	C	-													ctccaccagtgccctctgggCcccccatggaggaagatgga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7467047_7467047GC>G	uc002ghm.3	+	1	937	c.654_654GC>G	c.(652-654)gggfs	p.G218fs	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	218					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				TGCCCTCTGGGCCCCCCATGG	0.652													-	7467048	C	-	7467048	7	5	189	1	0	1	0	1	0	0	0	0	14048	739	26	0	657	0	SENP3	17	7467048	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	49845	7467048	73728162	3968	101825											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577121	G	A	7577121	3	1	189	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	110073	7577121	73618089	3969	101826											
TP53	7157	broad.mit.edu	37	chr17	7578407	7578407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcatggtgggggcagcGcctcacaacctccgtcatgt	13	14	3	0	rs138729528		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7578407G>A	uc002gim.2	-	5	717	c.523C>T	c.(523-525)CGC>TGC	p.R175C	TP53_uc002gig.1_Missense_Mutation_p.R175C|TP53_uc002gih.2_Missense_Mutation_p.R175C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43C|TP53_uc010cng.1_Missense_Mutation_p.R43C|TP53_uc002gii.1_Missense_Mutation_p.R43C|TP53_uc010cnh.1_Missense_Mutation_p.R175C|TP53_uc010cni.1_Missense_Mutation_p.R175C|TP53_uc002gij.2_Missense_Mutation_p.R175C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82C|TP53_uc002gio.2_Missense_Mutation_p.R43C|TP53_uc010vug.1_Missense_Mutation_p.R136C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(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*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TGGGGGCAGCGCCTCACAACC	0.657		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578407	G	A	7578407	3	1	189	1	0	0	0	0	1	0	0	0	16378	1087	38	1	775	1	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1286	7578407	73616803	3970	101827											
TP53	7157	broad.mit.edu	37	chr17	7578419	7578419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcagcgcctcacaacctCcgtcatgtgctgtgactgct	12	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7578419C>T	uc002gim.2	-	5	705	c.511G>A	c.(511-513)GAG>AAG	p.E171K	TP53_uc002gig.1_Missense_Mutation_p.E171K|TP53_uc002gih.2_Missense_Mutation_p.E171K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E39K|TP53_uc010cng.1_Missense_Mutation_p.E39K|TP53_uc002gii.1_Missense_Mutation_p.E39K|TP53_uc010cnh.1_Missense_Mutation_p.E171K|TP53_uc010cni.1_Missense_Mutation_p.E171K|TP53_uc002gij.2_Missense_Mutation_p.E171K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E78K|TP53_uc002gio.2_Missense_Mutation_p.E39K|TP53_uc010vug.1_Missense_Mutation_p.E132K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	171	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CTCACAACCTCCGTCATGTGC	0.662		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578419	C	T	7578419	3	4	189	1	0	0	0	0	1	0	0	0	16378	864	30	4	787	4	TP53	17	7578419	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	12	7578419	73616791	3971	101828											
DNAH2	146754	broad.mit.edu	37	chr17	7636499	7636499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtttgggacggtgcgggGcccctatatcccggccctgc	15	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7636499G>A	uc002giu.1	+	4	508	c.494G>A	c.(493-495)GGC>GAC	p.G165D	DNAH2_uc002git.2_Missense_Mutation_p.G165D|DNAH2_uc010vuk.1_Missense_Mutation_p.G165D	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	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			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGGTGCGGGGCCCCTATATC	0.552													A	7636499	G	A	7636499	3	1	189	1	0	0	0	0	1	0	0	0	4602	1203	42	2	508	2	DNAH2	17	7636499	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	58080	7636499	73558711	3972	101829											
DNAH2	146754	broad.mit.edu	37	chr17	7644171	7644171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggtggatctctacaTgctgttcaatagcgagctgg	14	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7644171T>C	uc002giu.1	+	10	1564	c.1550T>C	c.(1549-1551)ATG>ACG	p.M517T	DNAH2_uc002git.2_Missense_Mutation_p.M599T|DNAH2_uc010vuk.1_Missense_Mutation_p.M517T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	517	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATCTCTACATGCTGTTCAAT	0.592													C	7644171	T	C	7644171	3	2	189	1	0	0	0	0	1	0	0	0	4602	1464	51	3	1588	3	DNAH2	17	7644171	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7672	7644171	73551039	3973	101830											
DNAH2	146754	broad.mit.edu	37	chr17	7646246	7646246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcttcttcccctcagTgccttgctggtgctcatttc	7	15	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7646246T>C	uc002giu.1	+	11	1704	c.1690T>C	c.(1690-1692)TGC>CGC	p.C564R	DNAH2_uc002git.2_Missense_Mutation_p.C646R|DNAH2_uc010vuk.1_Missense_Mutation_p.C564R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	564	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCCCCTCAGTGCCTTGCTGG	0.582													C	7646246	T	C	7646246	3	2	189	1	0	0	0	0	1	0	0	0	4602	1710	59	3	1732	3	DNAH2	17	7646246	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2075	7646246	73548964	3974	101831											
DNAH2	146754	broad.mit.edu	37	chr17	7721664	7721664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgcattggcgataaggaGgtggaatataataccaattt	11	5	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7721664G>A	uc002giu.1	+	68	10436	c.10422G>A	c.(10420-10422)GAG>GAA	p.E3474E	DNAH2_uc010cnm.1_Silent_p.E412E	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3474	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCGATAAGGAGGTGGAATATA	0.542													A	7721664	G	A	7721664	2	1	189	1	0	0	0	0	0	0	0	1	4602	991	35	4		4	DNAH2	17	7721664	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	75418	7721664	73473546	3975	101832											
KDM6B	23135	broad.mit.edu	37	chr17	7748989	7748989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatccccctcctcgtagCgcatggctgcctggaggcag	11	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7748989C>T	uc002giw.1	+	4	493	c.117C>T	c.(115-117)AGC>AGT	p.S39S	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	39	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)|pancreas(1)	2						CTCCTCGTAGCGCATGGCTGC	0.642													T	7748989	C	T	7748989	2	4	189	1	0	0	0	0	0	0	0	1	8138	767	27	1		1	KDM6B	17	7748989	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	27325	7748989	73446221	3976	101833											
KDM6B	23135	broad.mit.edu	37	chr17	7752900	7752900	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgctcacttagtgagggGccccccaaggagctgaagat	13	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7752900G>C	uc002giw.1	+	11	3670	c.3294G>C	c.(3292-3294)GGG>GGC	p.G1098G	KDM6B_uc002gix.2_Silent_p.G400G	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1098					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)|pancreas(1)	2						TTAGTGAGGGGCCCCCCAAGG	0.632													C	7752900	G	C	7752900	2	2	189	1	0	0	0	0	0	0	0	1	8138	1190	42	5		5	KDM6B	17	7752900	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3911	7752900	73442310	3977	101834											
TRAPPC1	58485	broad.mit.edu	37	chr17	7834014	7834014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcacagtttggcccagCgggcacaggggattcttcac	12	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:7834014C>T	uc002gjo.1	-	4	464	c.348G>A	c.(346-348)CCG>CCA	p.P116P	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	116					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				TTTGGCCCAGCGGGCACAGGG	0.547													T	7834014	C	T	7834014	2	4	189	1	0	0	0	0	0	0	0	1	16453	755	27	1		1	TRAPPC1	17	7834014	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	81114	7834014	73361196	3978	101835											
C17orf68	80169	broad.mit.edu	37	chr17	8136238	8136238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacctatcagccgtgggTcactgaggggttgagagtgc	14	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:8136238T>C	uc002gkq.3	-	11	1990	c.1931A>G	c.(1930-1932)GAC>GGC	p.D644G	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	644					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						CAGCCGTGGGTCACTGAGGGG	0.552													C	8136238	T	C	8136238	3	2	189	1	0	0	0	0	1	0	0	0	1876	1667	58	3	1774	3	C17orf68	17	8136238	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	302224	8136238	73058972	3979	101836											
PFAS	5198	broad.mit.edu	37	chr17	8167809	8167809	+	Frame_Shift_Del	DEL	C	C	-													agttcttcctgcagaggaagCcccccatgctgcagcctctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:8167808_8167808GC>G	uc002gkr.3	+	16	2079	c.1938_1938GC>G	c.(1936-1938)aagfs	p.K646fs	PFAS_uc010vuv.2_Frame_Shift_Del_p.K222fs|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	646					'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)	TGCAGAGGAAGCCCCCCATGC	0.647													-	8167809	C	-	8167809	7	5	189	1	0	1	0	1	0	0	0	0	11754	739	26	0	2001	0	PFAS	17	8167809	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	31571	8167809	73027401	3980	101837											
ARHGEF15	22899	broad.mit.edu	37	chr17	8222131	8222131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgactgagttagggTgccggagggggggcgtgctc	21	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:8222131T>C	uc002glc.2	+	12	2057	c.1936T>C	c.(1936-1938)TGC>CGC	p.C646R	ARHGEF15_uc002gld.2_Missense_Mutation_p.C646R|ARHGEF15_uc010vuw.1_Missense_Mutation_p.C535R	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	646					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TGAGTTAGGGTGCCGGAGGGG	0.647													C	8222131	T	C	8222131	3	2	189	1	0	0	0	0	1	0	0	0	898	1696	59	3	1978	3	ARHGEF15	17	8222131	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	54322	8222131	72973079	3981	101838											
MYH10	4628	broad.mit.edu	37	chr17	8384695	8384695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctctctcctgctcggCgtgtcggcgggctcgctcag	12	16	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:8384695C>T	uc002gll.2	-	36	5212	c.5116G>A	c.(5116-5118)GCC>ACC	p.A1706T	MYH10_uc002glm.2_Missense_Mutation_p.A1737T|MYH10_uc010cnx.2_Missense_Mutation_p.A1715T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1706	Potential.				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			ovary(2)	2						TCCTGCTCGGCGTGTCGGCGG	0.602													T	8384695	C	T	8384695	3	4	189	1	0	0	0	0	1	0	0	0	10030	768	27	1	838	1	MYH10	17	8384695	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	162564	8384695	72810515	3982	101839											
PIK3R6	146850	broad.mit.edu	37	chr17	8738627	8738627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcctgcgtgacaggccTcccccagagccgcctgcagg	14	17	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:8738627T>C	uc002glq.1	-	8	848	c.608A>G	c.(607-609)GAG>GGG	p.E203G	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	203					platelet activation	cytosol					0						GTGACAGGCCTCCCCCAGAGC	0.667													C	8738627	T	C	8738627	3	2	189	1	0	0	0	0	1	0	0	0	11923	1551	54	3	1707	3	PIK3R6	17	8738627	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	353932	8738627	72456583	3983	101840											
PIK3R5	23533	broad.mit.edu	37	chr17	8784052	8784052	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaggaggcgtctggggTggtgaggagaggtcgctctt	20	6	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:8784052T>C	uc002glt.2	-	19	2614	c.2547A>G	c.(2545-2547)CCA>CCG	p.P849P	PIK3R5_uc010vuz.1_Silent_p.P849P|PIK3R5_uc002glu.3_Silent_p.P463P	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	849					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GCGTCTGGGGTGGTGAGGAGA	0.632													C	8784052	T	C	8784052	2	2	189	1	0	0	0	0	0	0	0	1	11922	1683	59	3		3	PIK3R5	17	8784052	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	45425	8784052	72411158	3984	101841											
PIK3R5	23533	broad.mit.edu	37	chr17	8794162	8794162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggcgagtgtccgggcgTactcagcttattggctacag	15	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:8794162T>C	uc002glt.2	-	7	617	c.550A>G	c.(550-552)ACG>GCG	p.T184A	PIK3R5_uc010vuz.1_Missense_Mutation_p.T184A|PIK3R5_uc002glu.3_Intron|PIK3R5_uc010coa.1_Missense_Mutation_p.T184A|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	184					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						TGTCCGGGCGTACTCAGCTTA	0.647													C	8794162	T	C	8794162	3	2	189	1	0	0	0	0	1	0	0	0	11922	1638	57	3	2144	3	PIK3R5	17	8794162	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10110	8794162	72401048	3985	101842											
RCVRN	5957	broad.mit.edu	37	chr17	9808152	9808152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcattcttgctgatggTcccgttaccgtccacgtcgt	8	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:9808152T>C	uc002gme.1	-	1	533	c.346A>G	c.(346-348)ACC>GCC	p.T116A		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	116	EF-hand 3.|2; high affinity (By similarity).				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						TTGCTGATGGTCCCGTTACCG	0.632													C	9808152	T	C	9808152	3	2	189	1	0	0	0	0	1	0	0	0	13186	1667	58	3	268	3	RCVRN	17	9808152	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1013990	9808152	71387058	3986	101843											
MYH13	8735	broad.mit.edu	37	chr17	10247249	10247249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgatgttgtagtccaCggtgccggcatagtgcacca	14	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:10247249C>T	uc002gmk.1	-	16	1852	c.1762G>A	c.(1762-1764)GTG>ATG	p.V588M	MYH13_uc010vvf.1_Missense_Mutation_p.V263M	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	588	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TTGTAGTCCACGGTGCCGGCA	0.552													T	10247249	C	T	10247249	3	4	189	1	0	0	0	0	1	0	0	0	10032	536	19	1	4158	1	MYH13	17	10247249	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	439097	10247249	70947961	3987	101844											
MYH13	8735	broad.mit.edu	37	chr17	10263318	10263318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcttcttgtccccggTaactgcaattgttgcaaaat	6	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:10263318T>C	uc002gmk.1	-	7	694	c.604A>G	c.(604-606)ACC>GCC	p.T202A		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	202	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TTGTCCCCGGTAACTGCAATT	0.493													C	10263318	T	C	10263318	3	2	189	1	0	0	0	0	1	0	0	0	10032	1638	57	3	5352	3	MYH13	17	10263318	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	16069	10263318	70931892	3988	101845											
MYH4	4622	broad.mit.edu	37	chr17	10356187	10356187	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattttaggtcaccctccagTtttctcttggctctttctaa	5	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:10356187T>C	uc002gmn.2	-	25	3285	c.3174A>G	c.(3172-3174)AAA>AAG	p.K1058K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1058	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CACCCTCCAGTTTTCTCTTGG	0.338													C	10356187	T	C	10356187	2	2	189	1	0	0	0	0	0	0	0	1	10037	1722	60	3		3	MYH4	17	10356187	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	92869	10356187	70839023	3989	101846											
MYH3	4621	broad.mit.edu	37	chr17	10545866	10545866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagacactgtagtccacggTgcccgcatagtggatcagtg	13	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:10545866T>C	uc002gmq.1	-	15	1833	c.1756A>G	c.(1756-1758)ACC>GCC	p.T586A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	586	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TAGTCCACGGTGCCCGCATAG	0.552													C	10545866	T	C	10545866	3	2	189	1	0	0	0	0	1	0	0	0	10036	1696	59	3	4170	3	MYH3	17	10545866	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	189679	10545866	70649344	3990	101847											
DNAH9	1770	broad.mit.edu	37	chr17	11672478	11672478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaccatccgtgtgtgcTacttcatggagcggttgatg	14	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:11672478T>C	uc002gne.2	+	38	7452	c.7384T>C	c.(7384-7386)TAC>CAC	p.Y2462H	DNAH9_uc010coo.2_Missense_Mutation_p.Y1756H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2462	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		CCGTGTGTGCTACTTCATGGA	0.612													C	11672478	T	C	11672478	3	2	189	1	0	0	0	0	1	0	0	0	4608	1522	53	3	7534	3	DNAH9	17	11672478	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1126612	11672478	69522732	3991	101848											
MYOCD	93649	broad.mit.edu	37	chr17	12639545	12639545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacagcagcagcgatggGctttctccggatcagactcg	14	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:12639545G>A	uc002gnn.2	+	6	782	c.483G>A	c.(481-483)GGG>GGA	p.G161G	MYOCD_uc002gno.2_Silent_p.G161G|MYOCD_uc002gnp.1_Silent_p.G65G	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	161	HDAC5-binding (By similarity).				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			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCGATGGGCTTTCTCCGG	0.547													A	12639545	G	A	12639545	2	1	189	1	0	0	0	0	0	0	0	1	10087	1190	42	2		2	MYOCD	17	12639545	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	967067	12639545	68555665	3992	101849											
MYOCD	93649	broad.mit.edu	37	chr17	12649294	12649294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacgccactgagcaatAcccccttgtctcctgtcaaa	5	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:12649294A>G	uc002gnn.2	+	9	1329	c.1030A>G	c.(1030-1032)ACC>GCC	p.T344A	MYOCD_uc002gno.2_Missense_Mutation_p.T344A|MYOCD_uc002gnp.1_Missense_Mutation_p.T248A|MYOCD_uc002gnq.2_Missense_Mutation_p.T63A	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	344					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			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTGAGCAATACCCCCTTGTC	0.413													G	12649294	A	G	12649294	3	3	189	1	0	0	0	0	1	0	0	0	10087	391	14	3	1064	3	MYOCD	17	12649294	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9749	12649294	68545916	3993	101850											
ADORA2B	136	broad.mit.edu	37	chr17	15848647	15848647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggcaacgtgctggtgTgcgccgcggtgggcacggcg	21	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:15848647T>C	uc002gpd.1	+	1	417	c.85T>C	c.(85-87)TGC>CGC	p.C29R		NM_000676	NP_000667	P29275	AA2BR_HUMAN	adenosine A2b receptor	29	Helical; Name=1; (By similarity).				activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGTGCTGGTGTGCGCCGCGGT	0.701													C	15848647	T	C	15848647	3	2	189	1	0	0	0	0	1	0	0	0	328	1696	59	3	87	3	ADORA2B	17	15848647	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3199353	15848647	65346563	3994	101851											
NCOR1	9611	broad.mit.edu	37	chr17	15989674	15989674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacgggatgagagggggCggtggcctggttggtcgagt	22	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:15989674C>T	uc002gpo.2	-	23	3339	c.3099G>A	c.(3097-3099)CCG>CCA	p.P1033P	NCOR1_uc002gpn.2_Silent_p.P1049P|NCOR1_uc002gpp.1_Silent_p.P940P|NCOR1_uc002gpq.1_Silent_p.P125P	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1033	Interaction with ETO.|Poly-Pro.				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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGAGAGGGGGCGGTGGCCTGG	0.483													T	15989674	C	T	15989674	2	4	189	1	0	0	0	0	0	0	0	1	10235	755	27	1		1	NCOR1	17	15989674	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	141027	15989674	65205536	3995	101852											
TRPV2	51393	broad.mit.edu	37	chr17	16335135	16335135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcttccttctgatctActtagtcttccttttcggct	7	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:16335135A>G	uc002gpy.2	+	11	1992	c.1625A>G	c.(1624-1626)TAC>TGC	p.Y542C	TRPV2_uc002gpz.2_Missense_Mutation_p.Y112C	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	542	Helical; (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTCTGATCTACTTAGTCTTC	0.622													G	16335135	A	G	16335135	3	3	189	1	0	0	0	0	1	0	0	0	16593	391	14	3	1663	3	TRPV2	17	16335135	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	345461	16335135	64860075	3996	101853											
C17orf76	388341	broad.mit.edu	37	chr17	16347255	16347255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgaggcggggcagggTgctgagtgctggcagcagct	21	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:16347255T>C	uc010cph.1	-	4	858	c.682A>G	c.(682-684)ACC>GCC	p.T228A	C17orf76_uc002gqh.2_Missense_Mutation_p.H189R|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|C17orf76_uc002gqg.1_3'UTR	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	hypothetical protein LOC388341 isoform 1	228											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGGGGCAGGGTGCTGAGTGCT	0.637													C	16347255	T	C	16347255	3	2	189	1	0	0	0	0	1	0	0	0	1881	1696	59	3	356	3	C17orf76	17	16347255	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	12120	16347255	64847955	3997	101854											
ZNF624	57547	broad.mit.edu	37	chr17	16527608	16527608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaagcctctttgactagTgggagtcttcttgagtggaa	11	7	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:16527608T>C	uc010cpi.1	-	6	675	c.592A>G	c.(592-594)ACT>GCT	p.T198A		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTTGACTAGTGGGAGTCTTC	0.368													C	16527608	T	C	16527608	3	2	189	1	0	0	0	0	1	0	0	0	18045	1696	59	3	2009	3	ZNF624	17	16527608	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	180353	16527608	64667602	3998	101855											
COPS3	8533	broad.mit.edu	37	chr17	17168289	17168289	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaaagcattttgctagcaAacaaagctgtgaacaaattg	7	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:17168289A>G	uc002grd.2	-	6	539	c.448T>C	c.(448-450)TTG>CTG	p.L150L	COPS3_uc010vwv.1_Silent_p.L130L|COPS3_uc010vww.1_Silent_p.L20L	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN	COP9 constitutive photomorphogenic homolog	150					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1						TTTGCTAGCAAACAAAGCTGT	0.338													G	17168289	A	G	17168289	2	3	189	1	0	0	0	0	0	0	0	1	3734	11	1	3		3	COPS3	17	17168289	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	640681	17168289	64026921	3999	101856											
RAI1	10743	broad.mit.edu	37	chr17	17712704	17712704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttctctttggtcacagGttgcatattcatcgaagaga	8	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:17712704G>A	uc002grm.2	+	5	6129	c.5660G>A	c.(5659-5661)GGT>GAT	p.G1887D		NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1887	PHD-type.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		TTGGTCACAGGTTGCATATTC	0.557													A	17712704	G	A	17712704	3	1	189	1	0	0	0	0	1	0	0	0	13007	1275	44	4	5670	4	RAI1	17	17712704	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	544415	17712704	63482506	4000	101857											
SREBF1	6720	broad.mit.edu	37	chr17	17721094	17721094	+	Frame_Shift_Del	DEL	G	G	-													cccctgctgccaagggacaaGgggctgctctggaaaggtga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:17721093_17721093AG>A	uc002gru.2	-	6	1515	c.1321_1321CT>T	c.(1321-1323)ttgfs	p.L441fs	SREBF1_uc002grp.2_Frame_Shift_Del_p.P10fs|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Frame_Shift_Del_p.L187fs|SREBF1_uc002grs.2_Frame_Shift_Del_p.L417fs|SREBF1_uc002grt.2_Frame_Shift_Del_p.L471fs|SREBF1_uc010cpp.1_Frame_Shift_Del_p.L417fs|SREBF1_uc010cpq.1_Frame_Shift_Del_p.L441fs	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	441	Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum 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						CCAAGGGACAAGGGGCTGCTC	0.642													-	17721094	G	-	17721094	7	5	189	1	0	1	0	1	0	0	0	0	15140	987	35	0	2175	0	SREBF1	17	17721094	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	8390	17721094	63474116	4001	101858											
TOM1L2	146691	broad.mit.edu	37	chr17	17764788	17764788	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacagggttaaagacctAccccttctgaactctgtttt	6	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:17764788A>G	uc002grz.3	-	12	1435	c.1278_splice	c.e12+1	p.G426_splice	TOM1L2_uc002gry.3_Splice_Site_p.G376_splice|TOM1L2_uc010vwy.1_Splice_Site_p.G373_splice|TOM1L2_uc010cpr.2_Splice_Site_p.G381_splice|TOM1L2_uc010vwz.1_Splice_Site_p.G278_splice|TOM1L2_uc010vxa.1_Splice_Site_p.G328_splice|TOM1L2_uc002grv.3_Splice_Site_p.G159_splice	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3						intracellular protein transport	intracellular					0	all_neural(463;0.228)					TTAAAGACCTACCCCTTCTGA	0.498													G	17764788	A	G	17764788	5	3	189	1	0	0	0	0	0	0	1	0	16350	405	14	3	259	3	TOM1L2	17	17764788	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	43694	17764788	63430422	4002	101859											
LRRC48	83450	broad.mit.edu	37	chr17	17891390	17891390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgtcgctgggcaacaAccggattgacaacatgatga	13	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:17891390A>G	uc010vxd.1	+	6	801	c.422A>G	c.(421-423)AAC>AGC	p.N141S	LRRC48_uc002gsa.2_Missense_Mutation_p.N141S|LRRC48_uc010vxc.1_Missense_Mutation_p.N141S|LRRC48_uc002gsb.2_Missense_Mutation_p.N141S	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	141	LRR 5.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)					CTGGGCAACAACCGGATTGAC	0.592													G	17891390	A	G	17891390	3	3	189	1	0	0	0	0	1	0	0	0	9005	43	2	3	432	3	LRRC48	17	17891390	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	126602	17891390	63303820	4003	101860											
LRRC48	83450	broad.mit.edu	37	chr17	17898317	17898317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttctgcctgcagactgCgtttgtggaacacctgaatg	12	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:17898317C>T	uc010vxd.1	+	9	1095	c.716C>T	c.(715-717)GCG>GTG	p.A239V	LRRC48_uc002gsa.2_Missense_Mutation_p.A239V|LRRC48_uc010vxc.1_Missense_Mutation_p.A239V|LRRC48_uc002gsb.2_Missense_Mutation_p.A239V|LRRC48_uc010vxe.1_5'Flank	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	239	Potential.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)					CTGCAGACTGCGTTTGTGGAA	0.483													T	17898317	C	T	17898317	3	4	189	1	0	0	0	0	1	0	0	0	9005	768	27	1	738	1	LRRC48	17	17898317	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6927	17898317	63296893	4004	101861											
DRG2	1819	broad.mit.edu	37	chr17	18005257	18005257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttataacaaaatcgaccagaTctccatggaagaggtggacc	9	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18005257T>C	uc002gsh.1	+	9	807	c.752T>C	c.(751-753)ATC>ACC	p.I251T	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.I251T	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	251					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					ATCGACCAGATCTCCATGGAA	0.577													C	18005257	T	C	18005257	3	2	189	1	0	0	0	0	1	0	0	0	4762	1435	50	3	786	3	DRG2	17	18005257	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	106940	18005257	63189953	4005	101862											
DRG2	1819	broad.mit.edu	37	chr17	18010553	18010553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccagatcgtgaagaagtAacggcgcctgccgggcctcc	12	14	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18010553A>G	uc002gsh.1	+	13	1149	c.1094A>G	c.(1093-1095)TAA>TGA	p.*365*	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_3'UTR|MYO15A_uc010vxh.1_5'Flank	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	365					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GTGAAGAAGTAACGGCGCCTG	0.602													G	18010553	A	G	18010553	2	3	189	1	0	0	0	0	0	0	0	1	4762	369	13	3		3	DRG2	17	18010553	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5296	18010553	63184657	4006	101863											
MYO15A	51168	broad.mit.edu	37	chr17	18043900	18043900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggcaagagcagctccGtcactcggctctacaaggcg	13	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18043900G>A	uc010vxh.1	+	19	5619	c.5281G>A	c.(5281-5283)GTC>ATC	p.V1761I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1761	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GAGCAGCTCCGTCACTCGGCT	0.652											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18043900	G	A	18043900	3	1	189	1	0	0	0	0	1	0	0	0	10063	1145	40	1	5351	1	MYO15A	17	18043900	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	33347	18043900	63151310	4007	101864											
FLII	2314	broad.mit.edu	37	chr17	18148506	18148506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcagcgggtaaaggcGtgctgctcattgcccttgcg	15	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18148506G>A	uc002gsr.1	-	30	3807	c.3756C>T	c.(3754-3756)CAC>CAT	p.H1252H	FLII_uc002gsq.1_Silent_p.H1123H|FLII_uc010cpy.1_Silent_p.H1241H|FLII_uc010vxn.1_Silent_p.H1221H|FLII_uc010vxo.1_Silent_p.H1197H	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	1252					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					GGGTAAAGGCGTGCTGCTCAT	0.652													A	18148506	G	A	18148506	2	1	189	1	0	0	0	0	0	0	0	1	5925	1136	40	1		1	FLII	17	18148506	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	104606	18148506	63046704	4008	101865											
TOP3A	7156	broad.mit.edu	37	chr17	18181368	18181368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcagcacagcctcctgGccacagttgcaggtcacaga	12	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18181368G>A	uc002gsx.1	-	18	2677	c.2448C>T	c.(2446-2448)GGC>GGT	p.G816G	TOP3A_uc010cpz.1_Silent_p.G268G|TOP3A_uc010vxr.1_Silent_p.G346G|TOP3A_uc002gsw.1_Silent_p.G268G|TOP3A_uc010vxs.1_Silent_p.G714G	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	816	1.|2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						CAGCCTCCTGGCCACAGTTGC	0.607													A	18181368	G	A	18181368	2	1	189	1	0	0	0	0	0	0	0	1	16364	1190	42	2		2	TOP3A	17	18181368	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	32862	18181368	63013842	4009	101866											
CCDC144B	284047	broad.mit.edu	37	chr17	18483886	18483886	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaacatgcaattttcAtgaaagagatgcttttcttt	6	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18483886A>T	uc002gua.3	-	12		c.2540T>A								Homo sapiens cDNA FLJ36492 fis, clone THYMU2018455.											ovary(1)|skin(1)	2						TGCAATTTTCATGAAAGAGAT	0.328													T	18483886	A	T	18483886	1	4	189	0	1	0	0	0	0	0	0	0	2778	232	8	5		5	CCDC144B	17	18483886	RNA	SNP	A	TCGA-CG-5721-01A-11D-1600-08	302518	18483886	62711324	4010	101867											
TBC1D28	254272	broad.mit.edu	37	chr17	18542507	18542507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacctccagggcactgAcgcggggcagctccatctca	10	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18542507A>G	uc002gud.2	-	6	591	c.179T>C	c.(178-180)GTC>GCC	p.V60A		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	60						intracellular	Rab GTPase activator activity			ovary(1)	1						CAGGGCACTGACGCGGGGCAG	0.652													G	18542507	A	G	18542507	3	3	189	1	0	0	0	0	1	0	0	0	15614	275	10	3	473	3	TBC1D28	17	18542507	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	58621	18542507	62652703	4011	101868											
FBXW10	10517	broad.mit.edu	37	chr17	18673283	18673283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctccgggtcatcagcGcctgtgcagatggcaagatc	11	13	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18673283G>A	uc002guk.2	+	11	2123	c.1891G>A	c.(1891-1893)GCC>ACC	p.A631T	FBXW10_uc002guj.2_Missense_Mutation_p.A631T|FBXW10_uc002gul.2_Missense_Mutation_p.A660T|FBXW10_uc010cqh.1_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	631	WD 7.									ovary(1)	1						GGTCATCAGCGCCTGTGCAGA	0.517													A	18673283	G	A	18673283	3	1	189	1	0	0	0	0	1	0	0	0	5763	1087	38	1	1933	1	FBXW10	17	18673283	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	130776	18673283	62521927	4012	101869											
FAM83G	644815	broad.mit.edu	37	chr17	18907282	18907282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctcgctgtagaagaActcaggcttggactcgctgg	12	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:18907282A>G	uc002guw.2	-	2	240	c.73T>C	c.(73-75)TTC>CTC	p.F25L	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	25										ovary(1)|central_nervous_system(1)	2						CTGTAGAAGAACTCAGGCTTG	0.662													G	18907282	A	G	18907282	3	3	189	1	0	0	0	0	1	0	0	0	5639	43	2	3	2418	3	FAM83G	17	18907282	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	233999	18907282	62287928	4013	101870											
MAPK7	5598	broad.mit.edu	37	chr17	19284578	19284578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggccaagtaccatgaTcctgatgatgagcctgactg	10	11	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:19284578T>C	uc002gvn.2	+	4	1442	c.1056T>C	c.(1054-1056)GAT>GAC	p.D352D	MAPK7_uc002gvo.2_Silent_p.D213D|MAPK7_uc002gvq.2_Silent_p.D352D|MAPK7_uc002gvp.2_Silent_p.D352D	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	352	Necessary for oligomerization (By similarity).				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			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGTACCATGATCCTGATGATG	0.587													C	19284578	T	C	19284578	2	2	189	1	0	0	0	0	0	0	0	1	9282	1432	50	3		3	MAPK7	17	19284578	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	377296	19284578	61910632	4014	101871											
ALDH3A2	224	broad.mit.edu	37	chr17	19555901	19555901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaactgagtgaaaatAcagccaagatcttggcaaag	9	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:19555901A>G	uc002gwb.1	+	3	648	c.427A>G	c.(427-429)ACA>GCA	p.T143A	ALDH3A2_uc002gwa.1_Missense_Mutation_p.T143A|ALDH3A2_uc010cqr.1_Translation_Start_Site|ALDH3A2_uc002gwc.1_Missense_Mutation_p.T143A	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	143	Cytoplasmic.				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 (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GAGTGAAAATACAGCCAAGAT	0.333													G	19555901	A	G	19555901	3	3	189	1	0	0	0	0	1	0	0	0	498	391	14	3	437	3	ALDH3A2	17	19555901	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	271323	19555901	61639309	4015	101872											
C17orf103	256302	broad.mit.edu	37	chr17	21147535	21147535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggacggcccggtcatgacAtcctgggggttgtggagaca	16	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:21147535A>C	uc010vzx.1	-	3	111	c.109T>G	c.(109-111)TGT>GGT	p.C37G		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	transcript expressed during hematopoiesis 2	37											0						CGGTCATGACATCCTGGGGGT	0.617													C	21147535	A	C	21147535	3	2	189	1	0	0	0	0	1	0	0	0	1850	217	8	5	119	5	C17orf103	17	21147535	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1591634	21147535	60047675	4016	101873											
TNFAIP1	7126	broad.mit.edu	37	chr17	26671585	26671585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagcgctacagcacttacGatgaccggcagctcggccac	10	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:26671585G>A	uc002hax.1	+	7	929	c.910G>A	c.(910-912)GAT>AAT	p.D304N	TNFAIP1_uc002hay.2_Missense_Mutation_p.D304N|TNFAIP1_uc010waf.1_Missense_Mutation_p.D200N	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	304					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				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CAGCACTTACGATGACCGGCA	0.637													A	26671585	G	A	26671585	3	1	189	1	0	0	0	0	1	0	0	0	16269	1058	37	1	932	1	TNFAIP1	17	26671585	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5524050	26671585	54523625	4017	101874											
VTN	7448	broad.mit.edu	37	chr17	26695960	26695960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccaaggctgcatccacGttgtccgggatgccatcgaa	13	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:26695960G>A	uc002hbc.2	-	5	908	c.759C>T	c.(757-759)AAC>AAT	p.N253N	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	253					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTGCATCCACGTTGTCCGGGA	0.592													A	26695960	G	A	26695960	2	1	189	1	0	0	0	0	0	0	0	1	17234	1136	40	1		1	VTN	17	26695960	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24375	26695960	54499250	4018	101875											
VTN	7448	broad.mit.edu	37	chr17	26697198	26697198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccatgccagcagggccagTatgagaaggggtctcagggg	16	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:26697198T>C	uc002hbc.2	-	1	176	c.27A>G	c.(25-27)ATA>ATG	p.I9M	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	9					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GCAGGGCCAGTATGAGAAGGG	0.617													C	26697198	T	C	26697198	3	2	189	1	0	0	0	0	1	0	0	0	17234	1628	57	3	1441	3	VTN	17	26697198	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1238	26697198	54498012	4019	101876											
ALDOC	230	broad.mit.edu	37	chr17	26900951	26900951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccagacaggaaggtcacTcctagtgtggaggagagaag	14	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:26900951T>C	uc002hbp.2	-	8	946	c.801A>G	c.(799-801)GGA>GGG	p.G267G	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Silent_p.G239G	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	267					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GGAAGGTCACTCCTAGTGTGG	0.547													C	26900951	T	C	26900951	2	2	189	1	0	0	0	0	0	0	0	1	509	1565	54	3		3	ALDOC	17	26900951	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	203753	26900951	54294259	4020	101877											
KIAA0100	9703	broad.mit.edu	37	chr17	26962262	26962262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccttgaagttgaagatActattgccatcaaagccagc	7	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:26962262A>G	uc002hbu.2	-	16	2442	c.2343T>C	c.(2341-2343)AGT>AGC	p.S781S		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	781						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AGTTGAAGATACTATTGCCAT	0.572													G	26962262	A	G	26962262	2	3	189	1	0	0	0	0	0	0	0	1	8154	388	14	3		3	KIAA0100	17	26962262	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	61311	26962262	54232948	4021	101878											
SUPT6H	6830	broad.mit.edu	37	chr17	27011678	27011678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggtggaagaagatgaCgactttatggacgagaacca	13	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27011678C>T	uc002hby.2	+	18	2394	c.2304C>T	c.(2302-2304)GAC>GAT	p.D768D	SUPT6H_uc010crt.2_Silent_p.D768D	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	768					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AAGAAGATGACGACTTTATGG	0.517													T	27011678	C	T	27011678	2	4	189	1	0	0	0	0	0	0	0	1	15397	535	19	1		1	SUPT6H	17	27011678	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	49416	27011678	54183532	4022	101879											
SUPT6H	6830	broad.mit.edu	37	chr17	27014226	27014226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagacatcctgtgtctcAagtttcaccccttgcaggtg	9	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27014226A>G	uc002hby.2	+	22	2911	c.2821A>G	c.(2821-2823)AAG>GAG	p.K941E	SUPT6H_uc010crt.2_Missense_Mutation_p.K941E|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	941					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CCTGTGTCTCAAGTTTCACCC	0.562													G	27014226	A	G	27014226	3	3	189	1	0	0	0	0	1	0	0	0	15397	131	5	3	2903	3	SUPT6H	17	27014226	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2548	27014226	54180984	4023	101880											
SUPT6H	6830	broad.mit.edu	37	chr17	27016471	27016471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctggaatacgatgaAtcagccgaggatgccaatcc	11	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27016471A>G	uc002hby.2	+	25	3324	c.3234A>G	c.(3232-3234)GAA>GAG	p.E1078E	SUPT6H_uc010crt.2_Silent_p.E1078E|SUPT6H_uc002hbz.1_Silent_p.E10E	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1078					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AATACGATGAATCAGCCGAGG	0.512													G	27016471	A	G	27016471	2	3	189	1	0	0	0	0	0	0	0	1	15397	98	4	3		3	SUPT6H	17	27016471	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2245	27016471	54178739	4024	101881											
NEK8	284086	broad.mit.edu	37	chr17	27068996	27068996	+	Frame_Shift_Del	DEL	C	C	-													gcggtcacagatgagccggtCcccccctgaggcacccggat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27068995_27068995TC>T	uc002hcp.3	+	14	2069	c.2069_2069TC>T	c.(2068-2070)gtcfs	p.V690fs	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	690						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)					GATGAGCCGGTCCCCCCCTGA	0.582													-	27068996	C	-	27068996	7	5	189	1	0	1	0	1	0	0	0	0	10330	842	30	0	2128	0	NEK8	17	27068996	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	52525	27068996	54126214	4025	101882											
FLOT2	2319	broad.mit.edu	37	chr17	27208887	27208887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcctcggcaggccggcGcactgtagcgatgagctcct	14	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27208887G>A	uc002hdc.2	-	8	982	c.859C>T	c.(859-861)CGC>TGC	p.R287C		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	287					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	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)			GCAGGCCGGCGCACTGTAGCG	0.617													A	27208887	G	A	27208887	3	1	189	1	0	0	0	0	1	0	0	0	5937	1087	38	1	443	1	FLOT2	17	27208887	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	139891	27208887	53986323	4026	101883											
TIAF1	9220	broad.mit.edu	37	chr17	27400961	27400961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggatcagccctgaacTgctgtagttggaatgggttt	13	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27400961T>C	uc002hdv.1	-	1	1667	c.257A>G	c.(256-258)CAG>CGG	p.Q86R	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	86					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus					0	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCCCTGAACTGCTGTAGTTG	0.542													C	27400961	T	C	27400961	3	2	189	1	0	0	0	0	1	0	0	0	15885	1580	55	3	94	3	TIAF1	17	27400961	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	192074	27400961	53794249	4027	101884											
MYO18A	399687	broad.mit.edu	37	chr17	27425890	27425890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgtacttcgatgaggGgcctcactgtggtaaaaagc	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27425890G>A	uc002hdt.1	-	23	3892	c.3734C>T	c.(3733-3735)CCC>CTC	p.P1245L	MYO18A_uc010wbc.1_Missense_Mutation_p.P787L|MYO18A_uc002hds.2_Missense_Mutation_p.P787L|MYO18A_uc010csa.1_Missense_Mutation_p.P1245L|MYO18A_uc002hdu.1_Missense_Mutation_p.P1245L|MYO18A_uc010wbd.1_Missense_Mutation_p.P914L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1245					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			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)			TTCGATGAGGGGCCTCACTGT	0.542													A	27425890	G	A	27425890	3	1	189	1	0	0	0	0	1	0	0	0	10065	1232	43	4	2510	4	MYO18A	17	27425890	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24929	27425890	53769320	4028	101885											
TAOK1	57551	broad.mit.edu	37	chr17	27802738	27802738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctacaaagaataaaacaTcccaacagtatagaatacaa	3	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:27802738T>C	uc002hdz.1	+	4	449	c.255T>C	c.(253-255)CAT>CAC	p.H85H	TAOK1_uc010wbe.1_Silent_p.H85H|TAOK1_uc010wbf.1_Silent_p.H85H	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	85	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GAATAAAACATCCCAACAGTA	0.358													C	27802738	T	C	27802738	2	2	189	1	0	0	0	0	0	0	0	1	15544	1432	50	3		3	TAOK1	17	27802738	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	376848	27802738	53392472	4029	101886											
EFCAB5	374786	broad.mit.edu	37	chr17	28417508	28417508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtggagaaacgcatatAgtagttccacttcgtgagag	12	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:28417508A>G	uc002het.2	+	20	3945	c.3753A>G	c.(3751-3753)ATA>ATG	p.I1251M	EFCAB5_uc010cse.2_Missense_Mutation_p.I1006M|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1251							calcium ion binding			ovary(1)|skin(1)	2						AAACGCATATAGTAGTTCCAC	0.403													G	28417508	A	G	28417508	3	3	189	1	0	0	0	0	1	0	0	0	4938	410	15	3	3998	3	EFCAB5	17	28417508	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	614770	28417508	52777702	4030	101887											
SLC6A4	6532	broad.mit.edu	37	chr17	28542674	28542674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagctagcaaaagccagcAggaccccaaagcccggacca	10	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:28542674A>G	uc002hey.3	-	8	1575	c.1031T>C	c.(1030-1032)CTG>CCG	p.L344P		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	344	Helical; Name=6; (Potential).				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			skin(3)|ovary(1)	4					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)	AAAAGCCAGCAGGACCCCAAA	0.542													G	28542674	A	G	28542674	3	3	189	1	0	0	0	0	1	0	0	0	14686	188	7	3	893	3	SLC6A4	17	28542674	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	125166	28542674	52652536	4031	101888											
SLC6A4	6532	broad.mit.edu	37	chr17	28545342	28545342	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaaggcaatgatgcagatGgcataaccaatccctgggca	10	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:28545342G>T	uc002hey.3	-	5	1036	c.492C>A	c.(490-492)GCC>GCA	p.A164A		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	164	Helical; Name=3; (Potential).				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			skin(3)|ovary(1)	4					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)	TGATGCAGATGGCATAACCAA	0.557													T	28545342	G	T	28545342	2	4	189	1	0	0	0	0	0	0	0	1	14686	1335	47	5		5	SLC6A4	17	28545342	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2668	28545342	52649868	4032	101889											
GOSR1	9527	broad.mit.edu	37	chr17	28804459	28804459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggacgacaaagatggcggCagggaccagcagttactggg	16	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:28804459C>T	uc002hfe.2	+	1	34	c.8C>T	c.(7-9)GCA>GTA	p.A3V	GOSR1_uc002hfd.2_Missense_Mutation_p.A3V|GOSR1_uc002hff.2_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.A3V	NM_004871	NP_004862	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1 isoform 1	3	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity				0						AAGATGGCGGCAGGGACCAGC	0.627											OREG0024301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28804459	C	T	28804459	3	4	189	1	0	0	0	0	1	0	0	0	6577	710	25	2	10	2	GOSR1	17	28804459	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	259117	28804459	52390751	4033	101890											
ATAD5	79915	broad.mit.edu	37	chr17	29185289	29185289	+	Frame_Shift_Del	DEL	A	A	-													aaatattttcccttactcctAaaaaaacaaattgagcacca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:29185288_29185288TA>T	uc002hfs.1	+	8	3246	c.2903_2903TA>T	c.(2902-2904)ctafs	p.L968fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.L865fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	968					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)				CCCTTACTCCTAAAAAAACAA	0.308													-	29185289	A	-	29185289	7	5	189	1	0	1	0	1	0	0	0	0	1076	349	13	0	2938	0	ATAD5	17	29185289	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	380830	29185289	52009921	4034	101891											
C17orf42	79736	broad.mit.edu	37	chr17	29231314	29231314	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttccacgaagcaatcGgaaagcttcaagttctttag	7	11	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:29231314G>A	uc002hfu.2	-	2	335	c.265C>T	c.(265-267)CGA>TGA	p.R89*	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Nonsense_Mutation_p.R89*|C17orf42_uc010wbs.1_Nonsense_Mutation_p.R89*	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	89					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CGAAGCAATCGGAAAGCTTCA	0.418													A	29231314	G	A	29231314	4	1	189	1	0	0	0	0	0	1	0	0	1856	1124	39	1	829	1	C17orf42	17	29231314	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	46025	29231314	51963896	4035	101892											
NF1	4763	broad.mit.edu	37	chr17	29550514	29550514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactagtcatcaaatgcttAgtagcacagaaattctcaag	6	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:29550514A>G	uc002hgg.2	+	16	2107	c.1774A>G	c.(1774-1776)AGT>GGT	p.S592G	NF1_uc002hgh.2_Missense_Mutation_p.S592G|NF1_uc010csn.1_Missense_Mutation_p.S452G|NF1_uc002hgi.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	592					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.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		TCAAATGCTTAGTAGCACAGA	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)			G	29550514	A	G	29550514	3	3	189	1	0	0	0	0	1	0	0	0	10356	420	15	3	1897	3	NF1	17	29550514	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	319200	29550514	51644696	4036	101893											
NF1	4763	broad.mit.edu	37	chr17	29559874	29559874	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttactcaatgccaacgtAgacagtggtctcatgcactc	7	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:29559874A>G	uc002hgg.2	+	26	3804	c.3471A>G	c.(3469-3471)GTA>GTG	p.V1157V	NF1_uc002hgh.2_Silent_p.V1157V|NF1_uc010csn.1_Silent_p.V1017V|NF1_uc002hgi.1_Silent_p.V190V	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1157					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.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		ATGCCAACGTAGACAGTGGTC	0.448			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)			G	29559874	A	G	29559874	2	3	189	1	0	0	0	0	0	0	0	1	10356	407	15	3		3	NF1	17	29559874	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	9360	29559874	51635336	4037	101894											
NF1	4763	broad.mit.edu	37	chr17	29701123	29701123	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaagccaagtgcagaagCaaagaagcgctggcagtttc	12	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:29701123C>T	uc002hgg.2	+	58	8803	c.8470C>T	c.(8470-8472)CAA>TAA	p.Q2824*	NF1_uc002hgh.2_Nonsense_Mutation_p.Q2803*|NF1_uc010cso.2_Nonsense_Mutation_p.Q1030*|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2824					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			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		AGTGCAGAAGCAAAGAAGCGC	0.463			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)			T	29701123	C	T	29701123	4	4	189	1	0	0	0	0	0	1	0	0	10356	711	25	2	8761	2	NF1	17	29701123	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	141249	29701123	51494087	4038	101895											
UTP6	55813	broad.mit.edu	37	chr17	30190399	30190399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataaatggccagtctgatgCatagcatgtttagctacaaa	8	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:30190399C>T	uc002hgr.2	-	19	1856	c.1773G>A	c.(1771-1773)ATG>ATA	p.M591I	UTP6_uc002hgq.2_Missense_Mutation_p.M407I|UTP6_uc010cst.2_Missense_Mutation_p.M440I	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	591					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CAGTCTGATGCATAGCATGTT	0.453													T	30190399	C	T	30190399	3	4	189	1	0	0	0	0	1	0	0	0	17099	710	25	2	24	2	UTP6	17	30190399	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	489276	30190399	51004811	4039	101896											
MYO1D	4642	broad.mit.edu	37	chr17	30986329	30986329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttggttcttttgtaccGcatgcgggccagggtgcccc	13	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:30986329G>A	uc002hho.1	-	17	2161	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W	MYO1D_uc002hhp.1_Missense_Mutation_p.R717W	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	717	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTTTTGTACCGCATGCGGGCC	0.507											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30986329	G	A	30986329	3	1	189	1	0	0	0	0	1	0	0	0	10071	1086	38	1	895	1	MYO1D	17	30986329	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	795930	30986329	50208881	4040	101897											
TMEM98	26022	broad.mit.edu	37	chr17	31260324	31260324	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggatcgaagatgcctcGtaaggccatgggaactgttt	13	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:31260324G>A	uc002hhq.2	+	4	721	c.263_splice	c.e4+1	p.S88_splice	TMEM98_uc002hhr.2_Splice_Site_p.S88_splice	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98							endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGATGCCTCGTAAGGCCATG	0.517													A	31260324	G	A	31260324	5	1	189	1	0	0	0	0	0	0	1	0	16222	1159	40	1	270	1	TMEM98	17	31260324	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	273995	31260324	49934886	4041	101898											
ACCN1	40	broad.mit.edu	37	chr17	31438937	31438937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtgcccagctcacctGtctctccccagatgggcagg	10	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:31438937G>A	uc002hhu.2	-	2	978	c.704C>T	c.(703-705)ACA>ATA	p.T235I	ACCN1_uc002hht.2_Missense_Mutation_p.T286I	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	235	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	CAGCTCACCTGTCTCTCCCCA	0.617													A	31438937	G	A	31438937	3	1	189	1	0	0	0	0	1	0	0	0	128	1377	48	4	870	4	ACCN1	17	31438937	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	178613	31438937	49756273	4042	101899											
C17orf102	400591	broad.mit.edu	37	chr17	32904605	32904605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcactgttgtacctaCaatgcctgtgatgttggaga	10	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:32904605C>A	uc002hie.1	-	2	534	c.445G>T	c.(445-447)GTA>TTA	p.V149L		NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	hypothetical protein LOC400591	149										ovary(1)	1						gttgtacctacaatgcctgTG	0.234													A	32904605	C	A	32904605	3	1	189	1	0	0	0	0	1	0	0	0	1849	478	17	5	62	5	C17orf102	17	32904605	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1465668	32904605	48290605	4043	101900											
FNDC8	54752	broad.mit.edu	37	chr17	33448908	33448908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcttggaggatgatAccatcaacctactgtaagtc	7	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:33448908A>G	uc002hix.2	+	1	278	c.196A>G	c.(196-198)ACC>GCC	p.T66A	RFFL_uc002hiq.2_5'Flank|RAD51L3_uc002hir.2_5'Flank|RAD51L3_uc010wcd.1_5'Flank|RAD51L3_uc002his.2_5'Flank|RAD51L3_uc010ctk.2_5'Flank|RAD51L3_uc010wce.1_5'Flank|RAD51L3_uc002hit.2_5'Flank|RAD51L3_uc002hiu.2_5'Flank|RAD51L3_uc010wcf.1_5'Flank|RAD51L3_uc002hiw.1_5'Flank|RAD51L3_uc002hiv.1_5'Flank|RAD51L3_uc010ctl.1_5'Flank|RAD51L3_uc010ctm.1_5'Flank	NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	66										ovary(2)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GGAGGATGATACCATCAACCT	0.299													G	33448908	A	G	33448908	3	3	189	1	0	0	0	0	1	0	0	0	5974	391	14	3	198	3	FNDC8	17	33448908	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	544303	33448908	47746302	4044	101901											
NLE1	54475	broad.mit.edu	37	chr17	33467011	33467011	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgtctccactgcctgGgactccaacgtcttccccag	7	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:33467011G>T	uc002hiy.1	-	3	265	c.237C>A	c.(235-237)TCC>TCA	p.S79S	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	79						nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				CCACTGCCTGGGACTCCAACG	0.557													T	33467011	G	T	33467011	2	4	189	1	0	0	0	0	0	0	0	1	10460	1219	43	5		5	NLE1	17	33467011	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	18103	33467011	47728199	4045	101902											
SLFN12	55106	broad.mit.edu	37	chr17	33738930	33738930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttttctggagtatacgtTatccttcctgatagccctga	9	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:33738930T>C	uc002hji.3	-	4	1541	c.1164A>G	c.(1162-1164)ATA>ATG	p.I388M	SLFN12_uc002hjj.3_Missense_Mutation_p.I388M|SLFN12_uc010cts.2_Missense_Mutation_p.I388M	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	388							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTATACGTTATCCTTCCTG	0.274													C	33738930	T	C	33738930	3	2	189	1	0	0	0	0	1	0	0	0	14734	1744	61	3	576	3	SLFN12	17	33738930	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	271919	33738930	47456280	4046	101903											
SLFN13	146857	broad.mit.edu	37	chr17	33768197	33768197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgactggtctgaaagTagtccagaaagatccagaga	11	8	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:33768197T>C	uc002hjk.1	-	4	2441	c.2111A>G	c.(2110-2112)TAC>TGC	p.Y704C	SLFN13_uc010wch.1_Missense_Mutation_p.Y704C|SLFN13_uc002hjl.2_Missense_Mutation_p.Y704C|SLFN13_uc010ctt.2_Missense_Mutation_p.Y386C|SLFN13_uc002hjm.2_Missense_Mutation_p.Y373C	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	704						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTCTGAAAGTAGTCCAGAAA	0.473													C	33768197	T	C	33768197	3	2	189	1	0	0	0	0	1	0	0	0	14736	1638	57	3	586	3	SLFN13	17	33768197	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	29267	33768197	47427013	4047	101904											
SLFN13	146857	broad.mit.edu	37	chr17	33770835	33770835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgttgttgtagatcagCtttgtgttccagacctttct	8	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:33770835C>T	uc002hjk.1	-	2	1501	c.1171G>A	c.(1171-1173)GCT>ACT	p.A391T	SLFN13_uc010wch.1_Missense_Mutation_p.A391T|SLFN13_uc002hjl.2_Missense_Mutation_p.A391T|SLFN13_uc010ctt.2_Missense_Mutation_p.A73T|SLFN13_uc002hjm.2_Missense_Mutation_p.A60T	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	391						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTAGATCAGCTTTGTGTTCC	0.408													T	33770835	C	T	33770835	3	4	189	1	0	0	0	0	1	0	0	0	14736	797	28	2	1534	2	SLFN13	17	33770835	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2638	33770835	47424375	4048	101905											
MMP28	79148	broad.mit.edu	37	chr17	34093727	34093727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgcagacttcgggggTagtagggctccacttgcagt	14	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:34093727T>C	uc002hjy.1	-	10	1614	c.1355A>G	c.(1354-1356)TAC>TGC	p.Y452C	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	452	Hemopexin-like 3.				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACTTCGGGGGTAGTAGGGCTC	0.657													C	34093727	T	C	34093727	3	2	189	1	0	0	0	0	1	0	0	0	9665	1638	57	3	211	3	MMP28	17	34093727	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	322892	34093727	47101483	4049	101906											
TBC1D3B	414059	broad.mit.edu	37	chr17	34499221	34499221	+	Missense_Mutation	SNP	C	C	T													cccgtaggcttacttggttcCgtatcgatccctgaagaaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:34499221C>T	uc002hky.2	-	7	640	c.490G>A	c.(490-492)GGA>AGA	p.G164R	uc002hla.1_5'Flank|uc002hlc.2_5'Flank	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	164	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACTTGGTTCCGTATCGATCC	0.572													T	34499221	C	T	34499221	3	4	189	1	0	0	0	0	1	0	0	0	15617	661	23	1	1191	1	TBC1D3B	17	34499221	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	405494	34499221	46695989	4050	101907	493	2									
TBC1D3B	414059	broad.mit.edu	37	chr17	34499223	34499223	+	Missense_Mutation	SNP	T	T	C													cgtaggcttacttggttccgTatcgatccctgaagaacata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:34499223T>C	uc002hky.2	-	7	638	c.488A>G	c.(487-489)TAC>TGC	p.Y163C	uc002hla.1_5'Flank|uc002hlc.2_5'Flank	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	163	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGGTTCCGTATCGATCCCT	0.567													C	34499223	T	C	34499223	3	2	189	1	0	0	0	0	1	0	0	0	15617	1638	57	3	1193	3	TBC1D3B	17	34499223	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2	34499223	46695987	4051	101908	493	2									
ACACA	31	broad.mit.edu	37	chr17	35550328	35550328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttaccttatcccttgctCggaatgtaaaaaatttaggg	7	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:35550328C>T	uc002hnm.2	-	36	4267	c.4076G>A	c.(4075-4077)CGA>CAA	p.R1359Q	ACACA_uc002hnk.2_Missense_Mutation_p.R1281Q|ACACA_uc002hnl.2_Missense_Mutation_p.R1301Q|ACACA_uc002hnn.2_Missense_Mutation_p.R1359Q|ACACA_uc002hno.2_Missense_Mutation_p.R1396Q|ACACA_uc010cuy.2_Missense_Mutation_p.R53Q	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1359					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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCCCTTGCTCGGAATGTAAA	0.338													T	35550328	C	T	35550328	3	4	189	1	0	0	0	0	1	0	0	0	106	884	31	1	3048	1	ACACA	17	35550328	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1051105	35550328	45644882	4052	101909											
SYNRG	11276	broad.mit.edu	37	chr17	35880674	35880674	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccacattcaagaggcacacTccacaggcaagctcctgagc	8	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:35880674T>A	uc002hoa.2	-	20	3827	c.3744A>T	c.(3742-3744)GGA>GGT	p.G1248G	SYNRG_uc010wde.1_Silent_p.G1193G|SYNRG_uc010wdf.1_Silent_p.G1170G|SYNRG_uc002hoc.2_Silent_p.G1169G|SYNRG_uc002hoe.2_Silent_p.G1170G|SYNRG_uc002hod.2_Silent_p.G1125G|SYNRG_uc010wdg.1_Silent_p.G1042G|SYNRG_uc002hob.2_Silent_p.G1248G	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1248					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						AGAGGCACACTCCACAGGCAA	0.512													A	35880674	T	A	35880674	2	1	189	1	0	0	0	0	0	0	0	1	15457	1538	54	5		5	SYNRG	17	35880674	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	330346	35880674	45314536	4053	101910											
SYNRG	11276	broad.mit.edu	37	chr17	35902351	35902351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatattccttttgctcActggtctgaggaatcgtgtc	8	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:35902351A>G	uc002hoa.2	-	15	3008	c.2925T>C	c.(2923-2925)AGT>AGC	p.S975S	SYNRG_uc010wde.1_Silent_p.S897S|SYNRG_uc010wdf.1_Silent_p.S897S|SYNRG_uc002hoc.2_Silent_p.S896S|SYNRG_uc002hoe.2_Silent_p.S897S|SYNRG_uc002hod.2_Silent_p.S852S|SYNRG_uc010wdg.1_Silent_p.S769S|SYNRG_uc002hob.2_Silent_p.S975S|SYNRG_uc002hof.2_Silent_p.S641S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	975					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CCTTTTGCTCACTGGTCTGAG	0.488													G	35902351	A	G	35902351	2	3	189	1	0	0	0	0	0	0	0	1	15457	156	6	3		3	SYNRG	17	35902351	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	21677	35902351	45292859	4054	101911											
GPR179	440435	broad.mit.edu	37	chr17	36483989	36483989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtagttccttcacttacCtcccagggacagatcttggc	8	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:36483989C>A	uc002hpz.2	-	11	5484	c.5463G>T	c.(5461-5463)GAG>GAT	p.E1821D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1821	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTCACTTACCTCCCAGGGAC	0.532													A	36483989	C	A	36483989	3	1	189	1	0	0	0	0	1	0	0	0	6674	680	24	5	1644	5	GPR179	17	36483989	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	581638	36483989	44711221	4055	101912											
MLLT6	4302	broad.mit.edu	37	chr17	36864113	36864113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtacgtgcctcatgaTcgcttcaacaaggtcagcgg	11	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:36864113T>C	uc002hqi.3	+	4	355	c.342T>C	c.(340-342)GAT>GAC	p.D114D	MLLT6_uc010wdr.1_Silent_p.D114D|MLLT6_uc010cvm.1_Silent_p.D114D	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	114					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					TGCCTCATGATCGCTTCAACA	0.582			T	MLL	AL								C	36864113	T	C	36864113	2	2	189	1	0	0	0	0	0	0	0	1	9630	1432	50	3		3	MLLT6	17	36864113	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	380124	36864113	44331097	4056	101913											
FBXL20	84961	broad.mit.edu	37	chr17	37420479	37420479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcagtcatagagttcTatccgctcaaggctatgaca	10	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:37420479T>C	uc010wed.1	-	14	1373	c.1152A>G	c.(1150-1152)ATA>ATG	p.I384M	FBXL20_uc002hrt.2_Missense_Mutation_p.I384M|FBXL20_uc010cvu.2_Missense_Mutation_p.I352M	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	384	LRR 12.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			CATAGAGTTCTATCCGCTCAA	0.498													C	37420479	T	C	37420479	3	2	189	1	0	0	0	0	1	0	0	0	5717	1512	53	3	166	3	FBXL20	17	37420479	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	556366	37420479	43774731	4057	101914											
CDK12	51755	broad.mit.edu	37	chr17	37627217	37627217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaagagatccagttcaCgcagtcgtcattccagtatc	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:37627217C>T	uc010cvv.2	+	2	1718	c.1132C>T	c.(1132-1134)CGC>TGC	p.R378C	CDK12_uc010wef.1_Missense_Mutation_p.R377C|CDK12_uc002hrw.3_Missense_Mutation_p.R378C	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	378					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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						ATCCAGTTCACGCAGTCGTCA	0.423										TCGA Ovarian(9;0.13)			T	37627217	C	T	37627217	3	4	189	1	0	0	0	0	1	0	0	0	3128	536	19	1	1138	1	CDK12	17	37627217	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	206738	37627217	43567993	4058	101915											
CDK12	51755	broad.mit.edu	37	chr17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-													ctcaggagcaggccttcactGggggggcccaactcagtctt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:37687471_37687471TG>T	uc010cvv.3	+	13	4961	c.4375_4375TG>T	c.(4375-4377)tggfs	p.W1459fs	CDK12_uc002hrw.4_Frame_Shift_Del_p.W1450fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1459					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCC	0.557			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			-	37687472	G	-	37687472	7	5	189	1	0	1	0	1	0	0	0	0	3128	1357	47	0	4430	0	CDK12	17	37687472	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	60255	37687472	43507738	4059	101916											
PNMT	5409	broad.mit.edu	37	chr17	37826227	37826227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctggcaggataaggagcGccagctgcgagccagggtga	17	9	0	1	rs150323544		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:37826227G>A	uc002hsi.1	+	3	656	c.434G>A	c.(433-435)CGC>CAC	p.R145H		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	145					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|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;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATAAGGAGCGCCAGCTGCGA	0.662													A	37826227	G	A	37826227	3	1	189	1	0	0	0	0	1	0	0	0	12159	1087	38	1	444	1	PNMT	17	37826227	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	138755	37826227	43368983	4060	101917											
MED24	9862	broad.mit.edu	37	chr17	38179049	38179049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctccactgcccgcagcgTgtgctccttccgcgtctcct	9	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38179049T>C	uc002htt.2	-	21	2594	c.2281A>G	c.(2281-2283)ACG>GCG	p.T761A	MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Missense_Mutation_p.T96A|MED24_uc010wes.1_Missense_Mutation_p.T621A|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.T786A|MED24_uc002htu.2_Missense_Mutation_p.T748A|MED24_uc010cwn.2_Missense_Mutation_p.T748A|MED24_uc010weu.1_Missense_Mutation_p.T671A|MED24_uc010wev.1_Missense_Mutation_p.T711A	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	761					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			ovary(1)	1	Colorectal(19;0.000442)					GCCCGCAGCGTGTGCTCCTTC	0.642													C	38179049	T	C	38179049	3	2	189	1	0	0	0	0	1	0	0	0	9442	1696	59	3	712	3	MED24	17	38179049	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	352822	38179049	43016161	4061	101918											
THRA	7067	broad.mit.edu	37	chr17	38240097	38240097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaccccagggcttctttCgccgcacaatccagaagaac	7	18	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38240097C>T	uc002htw.2	+	5	715	c.232C>T	c.(232-234)CGC>TGC	p.R78C	THRA_uc010cwp.1_Missense_Mutation_p.R78C|THRA_uc002htv.2_Missense_Mutation_p.R78C|THRA_uc002htx.2_Missense_Mutation_p.R78C	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	78	Nuclear receptor.				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				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGGCTTCTTTCGCCGCACAAT	0.552													T	38240097	C	T	38240097	3	4	189	1	0	0	0	0	1	0	0	0	15870	884	31	1	246	1	THRA	17	38240097	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61048	38240097	42955113	4062	101919											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38345469	38345469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccgtccagtcttctgccGtgtatacatgcctgaccact	7	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38345469G>A	uc010cwu.1	+	6	828	c.338G>A	c.(337-339)CGT>CAT	p.R113H	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R49H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	319					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTCTTCTGCCGTGTATACATG	0.527													A	38345469	G	A	38345469	3	1	189	1	0	0	0	0	1	0	0	0	13049	1145	40	1	352	1	RAPGEFL1	17	38345469	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	105372	38345469	42849741	4063	101920											
TOP2A	7153	broad.mit.edu	37	chr17	38573080	38573083	+	Frame_Shift_Del	DEL	ACAG	ACAG	-													tcttttgatagattctttcaAcagacagtcttttcttagca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38573079_38573082AACAG>A	uc002huq.3	-	1	246_249	c.87_90CTGTT>T	c.(85-90)tctgttfs	p.S29fs		NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	29					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|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	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|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)	AGATTCTTTCAACAGACAGTCTTT	0.338													-	38573083	ACAG	-	38573080	7	5	189	1	0	1	0	1	0	0	0	0	16362	43	2	0	4642	0	TOP2A	17	38573080	Frame_Shift_Del	DEL	ACAG	TCGA-CG-5721-01A-11D-1600-08	227611	38573080	42622130	4064	101921											
KRT25	147183	broad.mit.edu	37	chr17	38904579	38904579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcctggtggtaagtaTtttgctgcgttggtctacct	14	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38904579T>C	uc002hve.2	-	8	1364	c.1303A>G	c.(1303-1305)ATA>GTA	p.I435V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	435	Tail.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				GTGGTAAGTATTTTGCTGCGT	0.413													C	38904579	T	C	38904579	3	2	189	1	0	0	0	0	1	0	0	0	8462	1493	52	3	53	3	KRT25	17	38904579	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	331499	38904579	42290631	4065	101922											
KRT27	342574	broad.mit.edu	37	chr17	38933833	38933833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggaccttgatgtcaAggagctgctcatactcgagc	12	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38933833A>G	uc002hvg.2	-	6	1165	c.1124T>C	c.(1123-1125)CTT>CCT	p.L375P		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	375	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				CTTGATGTCAAGGAGCTGCTC	0.532													G	38933833	A	G	38933833	3	3	189	1	0	0	0	0	1	0	0	0	8464	72	3	3	267	3	KRT27	17	38933833	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	29254	38933833	42261377	4066	101923											
KRT28	162605	broad.mit.edu	37	chr17	38953472	38953472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgcgaggtctacccccGgggccgcgttcatctccacg	11	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38953472G>A	uc002hvh.1	-	4	818	c.752C>T	c.(751-753)CCG>CTG	p.P251L		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	251	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GTCTACCCCCGGGGCCGCGTT	0.597													A	38953472	G	A	38953472	3	1	189	1	0	0	0	0	1	0	0	0	8465	1116	39	1	662	1	KRT28	17	38953472	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	19639	38953472	42241738	4067	101924											
KRT28	162605	broad.mit.edu	37	chr17	38955785	38955785	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtccgtatttttcataccAacccttgatttttctctcta	4	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:38955785A>G	uc002hvh.1	-	1	427	c.361T>C	c.(361-363)TGG>CGG	p.W121R		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	121	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				TTTTCATACCAACCCTTGATT	0.423													G	38955785	A	G	38955785	3	3	189	1	0	0	0	0	1	0	0	0	8465	130	5	3	1065	3	KRT28	17	38955785	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2313	38955785	42239425	4068	101925											
KRT12	3859	broad.mit.edu	37	chr17	39019476	39019476	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtccacgttctggcgctcTgcgtccgcgcgcacctggag	14	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39019476T>A	uc002hvk.2	-	6	1239	c.1215A>T	c.(1213-1215)GCA>GCT	p.A405A		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	405	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				TCTGGCGCTCTGCGTCCGCGC	0.672													A	39019476	T	A	39019476	2	1	189	1	0	0	0	0	0	0	0	1	8449	1567	55	5		5	KRT12	17	39019476	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	63691	39019476	42175734	4069	101926											
KRT23	25984	broad.mit.edu	37	chr17	39081783	39081783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggagcttgcaggagTaccgagactgggtctcggat	15	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39081783T>C	uc002hvm.1	-	7	1554	c.965A>G	c.(964-966)TAC>TGC	p.Y322C	KRT23_uc010wfl.1_Missense_Mutation_p.Y185C|KRT23_uc010cxf.1_Missense_Mutation_p.Y109C|KRT23_uc010cxg.2_Missense_Mutation_p.Y322C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	322	Rod.|Coil 2.			Y -> N (in Ref. 1; AAK00050).		intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CTTGCAGGAGTACCGAGACTG	0.448													C	39081783	T	C	39081783	3	2	189	1	0	0	0	0	1	0	0	0	8460	1638	57	3	315	3	KRT23	17	39081783	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	62307	39081783	42113427	4070	101927											
KRTAP9-8	83901	broad.mit.edu	37	chr17	39394461	39394461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccaacttgctgtcAaaacacctgctgccagccca	7	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39394461A>G	uc002hwh.3	+	1	192	c.158A>G	c.(157-159)CAA>CGA	p.Q53R	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	53	6.|15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACTTGCTGTCAAAACACCTGC	0.632													G	39394461	A	G	39394461	3	3	189	1	0	0	0	0	1	0	0	0	8576	130	5	3	160	3	KRTAP9-8	17	39394461	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	312678	39394461	41800749	4071	101928											
KRT33A	3883	broad.mit.edu	37	chr17	39504875	39504875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccagctgccgcagggAcagctcggtctcatatctgt	10	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39504875A>G	uc002hwk.1	-	3	485	c.448T>C	c.(448-450)TCC>CCC	p.S150P		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	150	Rod.|Coil 1B.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TGCCGCAGGGACAGCTCGGTC	0.592													G	39504875	A	G	39504875	3	3	189	1	0	0	0	0	1	0	0	0	8469	275	10	3	786	3	KRT33A	17	39504875	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	110414	39504875	41690335	4072	101929											
KRT34	3885	broad.mit.edu	37	chr17	39538519	39538519	+	Frame_Shift_Del	DEL	A	A	-													ggtgctggaacaggtaatggAaaagcaggtaagctgctgga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39538518_39538518GA>G	uc002hwm.3	-	0	119	c.107_107TC>C	c.(106-108)tccfs	p.S36fs		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	36	Head.				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)				ACAGGTAATGGAAAAGCAGGT	0.582													-	39538519	A	-	39538519	7	5	189	1	0	1	0	1	0	0	0	0	8471	246	9	0	1232	0	KRT34	17	39538519	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	33644	39538519	41656691	4073	101930											
KRT32	3882	broad.mit.edu	37	chr17	39616434	39616434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagacggtgcggggcacGcatggggagggcacacaggt	18	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39616434G>A	uc002hwr.2	-	7	1336	c.1275C>T	c.(1273-1275)TGC>TGT	p.C425C		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	425	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				TGCGGGGCACGCATGGGGAGG	0.602													A	39616434	G	A	39616434	2	1	189	1	0	0	0	0	0	0	0	1	8468	1079	38	1		1	KRT32	17	39616434	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	77915	39616434	41578776	4074	101931											
KRT32	3882	broad.mit.edu	37	chr17	39622129	39622129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatccaggatcctgcgcaGgccattgatgtcggcctcca	10	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39622129G>T	uc002hwr.2	-	3	665	c.604C>A	c.(604-606)CTG>ATG	p.L202M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	202	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				ATCCTGCGCAGGCCATTGATG	0.572													T	39622129	G	T	39622129	3	4	189	1	0	0	0	0	1	0	0	0	8468	991	35	5	762	5	KRT32	17	39622129	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	5695	39622129	41573081	4075	101932											
KRT13	3860	broad.mit.edu	37	chr17	39661386	39661386	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctctgcttcaggtgCcagtcacggatcttcacctc	11	14	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39661386C>T	uc002hwu.1	-	1	480	c.417G>A	c.(415-417)TGG>TGA	p.W139*	KRT13_uc002hwv.1_Nonsense_Mutation_p.W139*|KRT13_uc002hww.2_Nonsense_Mutation_p.W32*|KRT13_uc010wfr.1_Nonsense_Mutation_p.W32*|KRT13_uc010cxo.2_Nonsense_Mutation_p.W139*|KRT13_uc002hwx.1_Nonsense_Mutation_p.W127*	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	139	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				GCTTCAGGTGCCAGTCACGGA	0.607													T	39661386	C	T	39661386	4	4	189	1	0	0	0	0	0	1	0	0	8450	740	26	2	991	2	KRT13	17	39661386	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	39257	39661386	41533824	4076	101933											
HAP1	9001	broad.mit.edu	37	chr17	39883656	39883656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcagcatgcccccacaaTccatgtacttctcccgcagg	6	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39883656T>C	uc002hxm.1	-	9	1337	c.1325A>G	c.(1324-1326)GAT>GGT	p.D442G	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Intron|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	442	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCCCCCACAATCCATGTACTT	0.612													C	39883656	T	C	39883656	3	2	189	1	0	0	0	0	1	0	0	0	6953	1450	50	3		3	HAP1	17	39883656	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	222270	39883656	41311554	4077	101934											
JUP	3728	broad.mit.edu	37	chr17	39913734	39913734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacggacacgcgcttccggTagtctgggttcttgtcctcg	12	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39913734T>C	uc002hxq.2	-	12	2256	c.1979A>G	c.(1978-1980)TAC>TGC	p.Y660C	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.Y660C|JUP_uc002hxs.2_Missense_Mutation_p.Y660C	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	660					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			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGCTTCCGGTAGTCTGGGTT	0.582													C	39913734	T	C	39913734	3	2	189	1	0	0	0	0	1	0	0	0	7972	1638	57	3	270	3	JUP	17	39913734	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	30078	39913734	41281476	4078	101935											
FKBP10	60681	broad.mit.edu	37	chr17	39973321	39973321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccccagctatgatcgcaAcaccttggtggccatcgtgg	10	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39973321A>G	uc002hxv.2	+	2	582	c.257A>G	c.(256-258)AAC>AGC	p.N86S	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	86	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TATGATCGCAACACCTTGGTG	0.612													G	39973321	A	G	39973321	3	3	189	1	0	0	0	0	1	0	0	0	5902	43	2	3	263	3	FKBP10	17	39973321	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	59587	39973321	41221889	4079	101936											
FKBP10	60681	broad.mit.edu	37	chr17	39973411	39973411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcaacgagcggcgacGcctcattgtgcctccccacc	11	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:39973411G>A	uc002hxv.2	+	2	672	c.347G>A	c.(346-348)CGC>CAC	p.R116H	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	116	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GAGCGGCGACGCCTCATTGTG	0.647													A	39973411	G	A	39973411	3	1	189	1	0	0	0	0	1	0	0	0	5902	1087	38	1	353	1	FKBP10	17	39973411	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	90	39973411	41221799	4080	101937											
ACLY	47	broad.mit.edu	37	chr17	40062802	40062802	+	Frame_Shift_Del	DEL	C	C	-													tgtacacgacagaggcgccaCccccggccaccatggtccag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40062801_40062801AC>A	uc002hyg.3	-	7	1009	c.846_846GT>T	c.(844-846)ggtfs	p.G282fs	ACLY_uc002hyh.3_Frame_Shift_Del_p.G282fs|ACLY_uc002hyi.3_Frame_Shift_Del_p.G336fs|ACLY_uc010wfx.2_Frame_Shift_Del_p.G336fs|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	282					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)				CAGAGGCGCCACCCCCGGCCA	0.602													-	40062802	C	-	40062802	7	5	189	1	0	1	0	1	0	0	0	0	143	507	18	0	2548	0	ACLY	17	40062802	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	89391	40062802	41132408	4081	101938											
ACLY	47	broad.mit.edu	37	chr17	40070067	40070067	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggatggctgaggtggtAcagatgaacttgtaaaggag	15	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40070067A>G	uc002hyg.2	-	2	223	c.60T>C	c.(58-60)TGT>TGC	p.C20C	ACLY_uc002hyh.2_Silent_p.C20C|ACLY_uc002hyi.2_Silent_p.C74C|ACLY_uc010wfx.1_Silent_p.C74C|ACLY_uc010wfy.1_Silent_p.C20C	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	20					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			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CTGAGGTGGTACAGATGAACT	0.567													G	40070067	A	G	40070067	2	3	189	1	0	0	0	0	0	0	0	1	143	389	14	3		3	ACLY	17	40070067	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7265	40070067	41125143	4082	101939											
DHX58	79132	broad.mit.edu	37	chr17	40263478	40263478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgtccatccagcatgCgcctgaactcttcaccatgc	7	17	2	1	rs143989971	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40263478C>T	uc002hyw.3	-	4	429	c.206G>A	c.(205-207)CGC>CAC	p.R69H	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R62H	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	69	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATCCAGCATGCGCCTGAACTC	0.627													T	40263478	C	T	40263478	3	4	189	1	0	0	0	0	1	0	0	0	4514	768	27	1	1874	1	DHX58	17	40263478	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	193411	40263478	40931732	4083	101940											
PSMC3IP	29893	broad.mit.edu	37	chr17	40726185	40726185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccacgattttgccaTctaggacttgaaggtcagca	12	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40726185T>C	uc002iai.2	-	4	312	c.269A>G	c.(268-270)GAT>GGT	p.D90G	PSMC3IP_uc002iaj.2_Missense_Mutation_p.D27G|PSMC3IP_uc002iak.2_Missense_Mutation_p.D90G|PSMC3IP_uc010wgn.1_Missense_Mutation_p.D11G|PSMC3IP_uc010wgo.1_Intron|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	90					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GATTTTGCCATCTAGGACTTG	0.527													C	40726185	T	C	40726185	3	2	189	1	0	0	0	0	1	0	0	0	12688	1435	50	3	404	3	PSMC3IP	17	40726185	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	462707	40726185	40469025	4084	101941											
TUBG2	27175	broad.mit.edu	37	chr17	40817819	40817819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacttcctcatgaccggcTacaccccgctcactacagac	5	19	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40817819T>C	uc010wgr.1	+	8	1073	c.817T>C	c.(817-819)TAC>CAC	p.Y273H	TUBG2_uc002iaq.2_Missense_Mutation_p.Y115H|TUBG2_uc002iar.2_Missense_Mutation_p.Y120H|TUBG2_uc002ias.2_Missense_Mutation_p.Y115H|TUBG2_uc002iap.2_Missense_Mutation_p.Y120H	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	273					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CATGACCGGCTACACCCCGCT	0.632													C	40817819	T	C	40817819	3	2	189	1	0	0	0	0	1	0	0	0	16762	1522	53	3	847	3	TUBG2	17	40817819	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	91634	40817819	40377391	4085	101942											
PLEKHH3	79990	broad.mit.edu	37	chr17	40821468	40821468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggctctgcaggaggaGctggctctctcccaccctca	13	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40821468G>A	uc002iau.2	-	12	2652	c.2185C>T	c.(2185-2187)CTC>TTC	p.L729F	PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Missense_Mutation_p.L90F|PLEKHH3_uc002iaw.2_3'UTR	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	729	FERM.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGCAGGAGGAGCTGGCTCTCT	0.532													A	40821468	G	A	40821468	3	1	189	1	0	0	0	0	1	0	0	0	12078	971	34	2	204	2	PLEKHH3	17	40821468	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3649	40821468	40373742	4086	101943											
CNTNAP1	8506	broad.mit.edu	37	chr17	40844011	40844011	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggtggaactcaacagTgagcaggcagactgtgggag	18	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40844011T>C	uc002iay.2	+	16	2746	c.2530_splice	c.e16+2	p.T844_splice	CNTNAP1_uc010wgs.1_Splice_Site	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor						axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AACTCAACAGTGAGCAGGCAG	0.602													C	40844011	T	C	40844011	5	2	189	1	0	0	0	0	0	0	1	0	3646	1710	59	3	2594	3	CNTNAP1	17	40844011	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22543	40844011	40351199	4087	101944											
RAMP2	10266	broad.mit.edu	37	chr17	40914372	40914373	+	Splice_Site	INS	-	-	G													tgtagcatctgtacctacagINSgggggacggtgaagaactat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40914371_40914372A>AG	uc002ibg.3	+	3	232	c.164_splice	c.e3-1	p.G55_splice	LOC100190938_uc002ibe.4_5'Flank|LOC100190938_uc002ibf.4_5'Flank|RAMP2_uc010cyt.3_Frame_Shift_Ins_p.T59fs|RAMP2_uc021txv.1_Intron	NM_005854	NP_005845	O60895	RAMP2_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 2 (RAMP2), mRNA.	55					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CTGTACCTACAGGGGGGACGGT	0.505													G	40914373	-	G	40914372	8	5	189	1	0	1	1	0	0	0	1	0	13022	1014	35	0	173	0	RAMP2	17	40914372	Splice_Site	INS	-	TCGA-CG-5721-01A-11D-1600-08	70361	40914372	40280838	4088	101945											
WNK4	65266	broad.mit.edu	37	chr17	40937399	40937399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaagctctggctgcgcAtggaggacgcgcggcgcggg	18	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40937399A>G	uc002ibj.2	+	6	1396	c.1375A>G	c.(1375-1377)ATG>GTG	p.M459V	WNK4_uc010wgx.1_Missense_Mutation_p.M123V|WNK4_uc002ibk.1_Missense_Mutation_p.M231V|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	459					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGGCTGCGCATGGAGGAcgc	0.607													G	40937399	A	G	40937399	3	3	189	1	0	0	0	0	1	0	0	0	17377	217	8	3	1397	3	WNK4	17	40937399	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23027	40937399	40257811	4089	101946											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-													accctgcccttcagccccctGggggggtgccatccagcctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		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)		TTCAGCCCCCTGGGGGGGTGC	0.632													-	40939870	G	-	40939870	7	5	189	1	0	1	0	1	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	2471	40939870	40255340	4090	101947											
WNK4	65266	broad.mit.edu	37	chr17	40947730	40947731	+	Frame_Shift_Ins	INS	-	-	CT													ttgcagccaacatcccccacINStctctctggttctccaaaac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40947729_40947730A>ACT	uc002ibj.3	+	15	3177_3178	c.3109_3110A>ACT	c.(3109-3111)actfs	p.T1037fs	WNK4_uc010wgx.2_Frame_Shift_Ins_p.T701fs|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1037					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)		AACATCCCCCACTCTCTCTGGT	0.574													CT	40947731	-	CT	40947730	7	5	189	1	0	1	1	0	0	0	0	0	17377	565	20	0	3172	0	WNK4	17	40947730	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	7860	40947730	40247480	4091	101948											
AOC2	314	broad.mit.edu	37	chr17	40997488	40997488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtctggccggttggaagTggttagagtccctctacctc	12	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:40997488T>C	uc002ibu.2	+	1	880	c.845T>C	c.(844-846)GTG>GCG	p.V282A	AOC2_uc002ibt.2_Missense_Mutation_p.V282A	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	282					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			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CGGTTGGAAGTGGTTAGAGTC	0.572													C	40997488	T	C	40997488	3	2	189	1	0	0	0	0	1	0	0	0	727	1696	59	3	847	3	AOC2	17	40997488	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	49758	40997488	40197722	4092	101949											
IFI35	3430	broad.mit.edu	37	chr17	41165193	41165193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgggctctgctctgatcAcctttgatgaccccaaaggt	10	12	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:41165193A>G	uc010whj.1	+	3	446	c.250A>G	c.(250-252)ACC>GCC	p.T84A		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	84					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TGCTCTGATCACCTTTGATGA	0.577													G	41165193	A	G	41165193	3	3	189	1	0	0	0	0	1	0	0	0	7516	159	6	3	260	3	IFI35	17	41165193	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	167705	41165193	40030017	4093	101950											
MPP3	4356	broad.mit.edu	37	chr17	41907103	41907103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatattgtcaggcagaggCgggagaacggggtcaaaatt	15	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:41907103C>T	uc002iei.3	-	7	526	c.360G>A	c.(358-360)CCG>CCA	p.P120P	MPP3_uc002ieh.2_Silent_p.P145P|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.P120P|MPP3_uc010wik.1_Silent_p.P145P|MPP3_uc010czj.1_3'UTR	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	120					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAGGCAGAGGCGGGAGAACGG	0.562													T	41907103	C	T	41907103	2	4	189	1	0	0	0	0	0	0	0	1	9735	755	27	1		1	MPP3	17	41907103	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	741910	41907103	39288107	4094	101951											
MPP3	4356	broad.mit.edu	37	chr17	41907449	41907449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctcatcactgtgcacGgaggcggcctgcaactcctc	9	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:41907449G>A	uc002iei.3	-	6	415	c.249C>T	c.(247-249)TCC>TCT	p.S83S	MPP3_uc002ieh.2_Silent_p.S108S|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.S83S|MPP3_uc010wik.1_Silent_p.S108S|MPP3_uc010czj.1_Silent_p.S83S	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	83	L27 2.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CACTGTGCACGGAGGCGGCCT	0.627													A	41907449	G	A	41907449	2	1	189	1	0	0	0	0	0	0	0	1	9735	1103	39	1		1	MPP3	17	41907449	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	346	41907449	39287761	4095	101952											
SLC4A1	6521	broad.mit.edu	37	chr17	42334882	42334882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgatccacacgcggcccaCgatgtactctagaccgttgg	11	15	1	1	rs28931584		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42334882C>T	uc002igf.3	-	13	1611	c.1462G>A	c.(1462-1464)GTG>ATG	p.V488M	SLC4A1_uc002igg.3_Missense_Mutation_p.V488M	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	488	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			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACGCGGCCCACGATGTACTCT	0.597													T	42334882	C	T	42334882	3	4	189	1	0	0	0	0	1	0	0	0	14650	536	19	1	1305	1	SLC4A1	17	42334882	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	427433	42334882	38860328	4096	101953											
SLC25A39	51629	broad.mit.edu	37	chr17	42397576	42397576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgacctgcaaagagtcCcttggtgcccgactcggccc	10	16	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42397576C>T	uc002ign.2	-	11	1106	c.952G>A	c.(952-954)GGA>AGA	p.G318R	SLC25A39_uc002igm.2_Missense_Mutation_p.G310R|SLC25A39_uc002igo.2_Missense_Mutation_p.G310R|SLC25A39_uc010wiw.1_Missense_Mutation_p.G295R|SLC25A39_uc010czu.2_Missense_Mutation_p.G186R	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	318	Solcar 3.|Helical; Name=6; (Potential).				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCAAAGAGTCCCTTGGTGCCC	0.667													T	42397576	C	T	42397576	3	4	189	1	0	0	0	0	1	0	0	0	14503	632	22	4	135	4	SLC25A39	17	42397576	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	62694	42397576	38797634	4097	101954											
ITGA2B	3674	broad.mit.edu	37	chr17	42457166	42457166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggggctcagcttgtccCggaagtctgcctcatcctag	11	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42457166C>T	uc002igt.1	-	18	1801	c.1769G>A	c.(1768-1770)CGG>CAG	p.R590Q	ITGA2B_uc002igu.1_Missense_Mutation_p.R71Q	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	590	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCTTGTCCCGGAAGTCTGC	0.602													T	42457166	C	T	42457166	3	4	189	1	0	0	0	0	1	0	0	0	7876	652	23	1	1402	1	ITGA2B	17	42457166	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	59590	42457166	38738044	4098	101955											
GPATCH8	23131	broad.mit.edu	37	chr17	42476888	42476888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccggccagaccttgagcGgctgcgggaatgctcactgc	15	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42476888G>A	uc002igw.1	-	8	2621	c.2557C>T	c.(2557-2559)CGC>TGC	p.R853C	GPATCH8_uc002igv.1_Missense_Mutation_p.R775C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R775C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	853	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GACCTTGAGCGGCTGCGGGAA	0.547													A	42476888	G	A	42476888	3	1	189	1	0	0	0	0	1	0	0	0	6594	1116	39	1	1955	1	GPATCH8	17	42476888	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	19722	42476888	38718322	4099	101956											
GPATCH8	23131	broad.mit.edu	37	chr17	42477017	42477017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccactactgggttggctccGatggctagaccggctgctcc	12	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42477017G>A	uc002igw.1	-	8	2492	c.2428C>T	c.(2428-2430)CGG>TGG	p.R810W	GPATCH8_uc002igv.1_Missense_Mutation_p.R732W|GPATCH8_uc010wiz.1_Missense_Mutation_p.R732W	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	810	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTTGGCTCCGATGGCTAGAC	0.552													A	42477017	G	A	42477017	3	1	189	1	0	0	0	0	1	0	0	0	6594	1057	37	1	2084	1	GPATCH8	17	42477017	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	129	42477017	38718193	4100	101957											
GPATCH8	23131	broad.mit.edu	37	chr17	42512431	42512431	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaatagctttgtttaaatAccttgtacttttgtctcagc	6	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42512431A>G	uc002igw.1	-	5	412	c.348_splice	c.e5+1	p.K116_splice	GPATCH8_uc002igv.1_Splice_Site_p.K38_splice|GPATCH8_uc010wiz.1_Splice_Site_p.K38_splice	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8							intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTGTTTAAATACCTTGTACTT	0.388													G	42512431	A	G	42512431	5	3	189	1	0	0	0	0	0	0	1	0	6594	405	14	3	4174	3	GPATCH8	17	42512431	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	35414	42512431	38682779	4101	101958											
C17orf104	284071	broad.mit.edu	37	chr17	42745051	42745051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaatggattttgtgataActattcagctcagaagtatg	9	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42745051A>G	uc010czv.2	+	5	1772	c.1772A>G	c.(1771-1773)AAC>AGC	p.N591S	C17orf104_uc002igy.1_Missense_Mutation_p.N425S|C17orf104_uc002igz.3_Missense_Mutation_p.N425S|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.N425S	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	591										central_nervous_system(1)	1						TTTTGTGATAACTATTCAGCT	0.363													G	42745051	A	G	42745051	3	3	189	1	0	0	0	0	1	0	0	0	1851	43	2	3	1790	3	C17orf104	17	42745051	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	232620	42745051	38450159	4102	101959											
EFTUD2	9343	broad.mit.edu	37	chr17	42940176	42940176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtaccttcacaggctgCccagcatgaatggtgccact	9	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:42940176C>T	uc002ihn.2	-	16	1773	c.1512G>A	c.(1510-1512)GGG>GGA	p.G504G	EFTUD2_uc010wje.1_Silent_p.G469G|EFTUD2_uc010wjf.1_Silent_p.G494G	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	504						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				TCACAGGCTGCCCAGCATGAA	0.572													T	42940176	C	T	42940176	2	4	189	1	0	0	0	0	0	0	0	1	4961	726	26	2		2	EFTUD2	17	42940176	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	195125	42940176	38255034	4103	101960											
HEXIM1	10614	broad.mit.edu	37	chr17	43227060	43227060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcattggaaaccgtactAcaagctgacctgggaagaga	13	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:43227060A>G	uc002iig.2	+	1	2377	c.503A>G	c.(502-504)TAC>TGC	p.Y168C		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	168	Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.				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			ovary(1)	1						AAACCGTACTACAAGCTGACC	0.567											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	43227060	A	G	43227060	3	3	189	1	0	0	0	0	1	0	0	0	7076	391	14	3	505	3	HEXIM1	17	43227060	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	286884	43227060	37968150	4104	101961											
HEXIM2	124790	broad.mit.edu	37	chr17	43246699	43246699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggcctcccgggtccgCgaagagatgttcgccaaagg	15	12	0	2	rs150581722		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:43246699C>T	uc002iih.1	+	4	623	c.384C>T	c.(382-384)CGC>CGT	p.R128R	HEXIM2_uc010daf.1_Silent_p.R150R|HEXIM2_uc002iii.1_Silent_p.R128R|HEXIM2_uc002iij.1_Silent_p.R128R|uc002iik.1_RNA	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	128					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				0						CCCGGGTCCGCGAAGAGATGT	0.627													T	43246699	C	T	43246699	2	4	189	1	0	0	0	0	0	0	0	1	7077	755	27	1		1	HEXIM2	17	43246699	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	19639	43246699	37948511	4105	101962											
MAPT	4137	broad.mit.edu	37	chr17	44039745	44039745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaagtgatggaagatcaCgctgggacgtacgggttggg	17	6	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:44039745C>T	uc002ijr.3	+	2	362	c.42C>T	c.(40-42)CAC>CAT	p.H14H	MAPT_uc010dau.2_Silent_p.H14H|MAPT_uc002ijs.3_Silent_p.H14H|MAPT_uc002ijx.3_Silent_p.H14H|MAPT_uc002ijt.3_Silent_p.H14H|MAPT_uc002iju.3_Silent_p.H14H|MAPT_uc002ijv.3_Silent_p.H14H	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	14					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			pancreas(1)	1		Melanoma(429;0.216)				TGGAAGATCACGCTGGGACGT	0.562													T	44039745	C	T	44039745	2	4	189	1	0	0	0	0	0	0	0	1	9297	535	19	1		1	MAPT	17	44039745	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	793046	44039745	37155465	4106	101963											
WNT3	7473	broad.mit.edu	37	chr17	44845745	44845745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctgacgtagcagcAccagtggaagatgcagtggc	15	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:44845745A>G	uc002ikv.2	-	4	1128	c.1009T>C	c.(1009-1011)TGC>CGC	p.C337R		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	337					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACGTAGCAGCACCAGTGGAAG	0.617													G	44845745	A	G	44845745	3	3	189	1	0	0	0	0	1	0	0	0	17385	159	6	3	62	3	WNT3	17	44845745	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	806000	44845745	36349465	4107	101964											
CDC27	996	broad.mit.edu	37	chr17	45199935	45199935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagagaaattcatcaggGcgaggtgcgtttgacctaac	11	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:45199935G>A	uc002ild.3	-	18	2394	c.2267C>T	c.(2266-2268)GCC>GTC	p.A756V	CDC27_uc002ile.3_Missense_Mutation_p.A762V|CDC27_uc002ilf.3_Missense_Mutation_p.A755V|CDC27_uc010wkp.1_Missense_Mutation_p.A695V|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	756	TPR 9.				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			lung(2)|breast(2)|ovary(1)	5						ATTCATCAGGGCGAGGTGCGT	0.363													A	45199935	G	A	45199935	3	1	189	1	0	0	0	0	1	0	0	0	3066	1203	42	2	215	2	CDC27	17	45199935	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	354190	45199935	35995275	4108	101965											
C17orf57	124989	broad.mit.edu	37	chr17	45425174	45425174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgttatgtgtgtgcagCacttcataaagcctgtaaaa	9	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:45425174C>T	uc002iln.2	+	9	929	c.518C>T	c.(517-519)GCA>GTA	p.A173V	C17orf57_uc002ilm.2_Intron|C17orf57_uc002ill.1_Intron|C17orf57_uc010daz.1_Intron	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	173							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						GTGTGTGCAGCACTTCATAAA	0.308													T	45425174	C	T	45425174	3	4	189	1	0	0	0	0	1	0	0	0	1865	724	25	2	540	2	C17orf57	17	45425174	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	225239	45425174	35770036	4109	101966											
C17orf57	124989	broad.mit.edu	37	chr17	45451978	45451978	+	Frame_Shift_Del	DEL	A	A	-													caatatccaaaaagttaaatAaaaaaagcaaccaatattat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:45451977_45451977TA>T	uc002iln.3	+	11	1448	c.1017_1017TA>T	c.(1015-1017)aatfs	p.N339fs	C17orf57_uc002ilm.3_Frame_Shift_Del_p.N243fs|C17orf57_uc002ill.1_Frame_Shift_Del_p.N95fs|C17orf57_uc010daz.1_Frame_Shift_Del_p.N291fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	339							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AAAAGTTAAATAAAAAAAGCA	0.308													-	45451978	A	-	45451978	7	5	189	1	0	1	0	1	0	0	0	0	1865	363	13	0	1052	0	C17orf57	17	45451978	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	26804	45451978	35743232	4110	101967											
OSBPL7	114881	broad.mit.edu	37	chr17	45897450	45897450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctcctccaccacctcccAcagctcagaggcctgcagtc	8	19	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:45897450A>G	uc002ilx.1	-	3	291	c.88T>C	c.(88-90)TGG>CGG	p.W30R		NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	30					lipid transport		lipid binding				0						ACCACCTCCCACAGCTCAGAG	0.642													G	45897450	A	G	45897450	3	3	189	1	0	0	0	0	1	0	0	0	11282	159	6	3	2524	3	OSBPL7	17	45897450	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	445472	45897450	35297760	4111	101968											
SCRN2	90507	broad.mit.edu	37	chr17	45917722	45917722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttcgacacctgttccActtcaatgtaggtgcactgg	10	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:45917722A>G	uc002imd.2	-	3	317	c.191T>C	c.(190-192)GTG>GCG	p.V64A	SCRN2_uc002imc.2_Missense_Mutation_p.V72A|SCRN2_uc002imf.2_Missense_Mutation_p.V64A|SCRN2_uc002ime.2_RNA	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	secernin 2 isoform 1	64					proteolysis		dipeptidase activity			ovary(1)	1						CACCTGTTCCACTTCAATGTA	0.517													G	45917722	A	G	45917722	3	3	189	1	0	0	0	0	1	0	0	0	13939	159	6	3	1128	3	SCRN2	17	45917722	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20272	45917722	35277488	4112	101969											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46058547	46058547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtatgtggaccgagtgacTgaattcctccagcaaaagct	11	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:46058547T>C	uc002imr.2	+	13	1386	c.1302T>C	c.(1300-1302)ACT>ACC	p.T434T	CDK5RAP3_uc010wlc.1_Silent_p.T454T|CDK5RAP3_uc002imq.1_Silent_p.T209T|CDK5RAP3_uc002imu.2_Silent_p.T278T|CDK5RAP3_uc002ims.2_Silent_p.T347T|CDK5RAP3_uc002imv.2_Silent_p.T278T|CDK5RAP3_uc002imw.2_Silent_p.T276T|CDK5RAP3_uc002imx.2_Silent_p.T209T	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	434					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0						ACCGAGTGACTGAATTCCTCC	0.577													C	46058547	T	C	46058547	2	2	189	1	0	0	0	0	0	0	0	1	3147	1567	55	3		3	CDK5RAP3	17	46058547	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	140825	46058547	35136663	4113	101970											
HOXB13	10481	broad.mit.edu	37	chr17	46805884	46805884	+	Frame_Shift_Del	DEL	C	C	-													gagtgggcgaccagattccgCccccctcccgctcccagcaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:46805883_46805883GC>G	uc002ioa.3	-	0	229	c.73_73GC>C	c.(73-75)cggfs	p.R25fs		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	25					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G24G(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ACCAGATTCCGCCCCCCTCCC	0.652													-	46805884	C	-	46805884	7	5	189	1	0	1	0	1	0	0	0	0	7300	726	26	0	790	0	HOXB13	17	46805884	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	747337	46805884	34389326	4114	101971											
SNF8	11267	broad.mit.edu	37	chr17	47022068	47022068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtttcttcttggcgatgGcgccagctcccaccccgcgg	11	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:47022068G>A	uc002ioj.2	-	1	87	c.29C>T	c.(28-30)GCC>GTC	p.A10V	SNF8_uc002iok.2_Missense_Mutation_p.A10V	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	EAP30 subunit of ELL complex	10					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				0						CTTGGCGATGGCGCCAGCTCC	0.547													A	47022068	G	A	47022068	3	1	189	1	0	0	0	0	1	0	0	0	14846	1203	42	2	779	2	SNF8	17	47022068	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	216184	47022068	34173142	4115	101972											
ZNF652	22834	broad.mit.edu	37	chr17	47394489	47394489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaggggaagtggtagctGcggcaacagaggcagctctc	17	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:47394489G>A	uc002iov.3	-	2	1063	c.599C>T	c.(598-600)GCA>GTA	p.A200V	ZNF652_uc002iow.2_Missense_Mutation_p.A200V|ZNF652_uc002iou.3_Intron	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGTGGTAGCTGCGGCAACAGA	0.493													A	47394489	G	A	47394489	3	1	189	1	0	0	0	0	1	0	0	0	18062	1319	46	2	1241	2	ZNF652	17	47394489	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	372421	47394489	33800721	4116	101973											
SLC35B1	10237	broad.mit.edu	37	chr17	47781497	47781497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgaccaaaggttgatgTtcagcatcatgtggttggag	13	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:47781497T>C	uc002iph.1	-	6	707	c.620A>G	c.(619-621)AAC>AGC	p.N207S	SLC35B1_uc002ipi.1_Missense_Mutation_p.N140S|SLC35B1_uc002ipj.1_Missense_Mutation_p.N83S|SLC35B1_uc010wly.1_Missense_Mutation_p.N207S	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	207						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						AAGGTTGATGTTCAGCATCAT	0.527													C	47781497	T	C	47781497	3	2	189	1	0	0	0	0	1	0	0	0	14575	1725	60	3	364	3	SLC35B1	17	47781497	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	387008	47781497	33413713	4117	101974											
ITGA3	3675	broad.mit.edu	37	chr17	48158769	48158769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatggagaacaagaccacGtgggtgagtgcgcatgttca	13	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:48158769G>A	uc010dbl.2	+	23	3380	c.2916G>A	c.(2914-2916)ACG>ACA	p.T972T	ITGA3_uc010dbm.2_Silent_p.T972T	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	972	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						ACAAGACCACGTGGGTGAGTG	0.517													A	48158769	G	A	48158769	2	1	189	1	0	0	0	0	0	0	0	1	7877	1132	40	1		1	ITGA3	17	48158769	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	377272	48158769	33036441	4118	101975											
LRRC59	55379	broad.mit.edu	37	chr17	48462559	48462559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcatactcctttctcCggcgctccttctcttccgcc	7	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:48462559C>T	uc002iqt.2	-	6	750	c.596G>A	c.(595-597)CGG>CAG	p.R199Q		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	199	Potential.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTCCTTTCTCCGGCGCTCCTT	0.552													T	48462559	C	T	48462559	3	4	189	1	0	0	0	0	1	0	0	0	9015	652	23	1	335	1	LRRC59	17	48462559	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	303790	48462559	32732651	4119	101976											
RSAD1	55316	broad.mit.edu	37	chr17	48559747	48559747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcgcagctgagatgtAccagaggggccgggctgtcc	17	11	0	2	rs140459309	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:48559747A>G	uc002iqw.1	+	4	826	c.770A>G	c.(769-771)TAC>TGC	p.Y257C	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	257					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCTGAGATGTACCAGAGGGGC	0.652											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	48559747	A	G	48559747	3	3	189	1	0	0	0	0	1	0	0	0	13694	391	14	3	784	3	RSAD1	17	48559747	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	97188	48559747	32635463	4120	101977											
ABCC3	8714	broad.mit.edu	37	chr17	48746229	48746229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggctatgccatcaccaTacacagtggcaccttcacct	6	16	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:48746229T>C	uc002isl.2	+	15	1966	c.1886T>C	c.(1885-1887)ATA>ACA	p.I629T		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	629	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCCATCACCATACACAGTGGC	0.557													C	48746229	T	C	48746229	3	2	189	1	0	0	0	0	1	0	0	0	54	1406	49	3	2028	3	ABCC3	17	48746229	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	186482	48746229	32448981	4121	101978											
ABCC3	8714	broad.mit.edu	37	chr17	48765057	48765057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcactgtcctgaccatcGcacaccggcttaacactatc	6	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:48765057G>A	uc002isl.2	+	30	4521	c.4441G>A	c.(4441-4443)GCA>ACA	p.A1481T	ABCC3_uc002isn.2_Missense_Mutation_p.A235T	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1481	Cytoplasmic (By similarity).|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			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGACCATCGCACACCGGCT	0.577													A	48765057	G	A	48765057	3	1	189	1	0	0	0	0	1	0	0	0	54	1087	38	1	4643	1	ABCC3	17	48765057	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	18828	48765057	32430153	4122	101979											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917518	48917518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctacacctgcacggcccGgaacgtggctggggtcctga	14	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:48917518G>A	uc002isv.3	+	2	1563	c.869G>A	c.(868-870)CGG>CAG	p.R290Q	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R197Q	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	290	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCACGGCCCGGAACGTGGCT	0.622													A	48917518	G	A	48917518	3	1	189	1	0	0	0	0	1	0	0	0	17356	1116	39	1	875	1	WFIKKN2	17	48917518	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	152461	48917518	32277692	4123	101980											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917660	48917660	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccagacagtgaggactgTggcgaagagcagacccgctg	14	13	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:48917660T>C	uc002isv.3	+	2	1705	c.1011T>C	c.(1009-1011)TGT>TGC	p.C337C	WFIKKN2_uc010dbu.2_Silent_p.C244C	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	337	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTGAGGACTGTGGCGAAGAGC	0.627													C	48917660	T	C	48917660	2	2	189	1	0	0	0	0	0	0	0	1	17356	1702	59	3		3	WFIKKN2	17	48917660	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	142	48917660	32277550	4124	101981											
SPAG9	9043	broad.mit.edu	37	chr17	49074005	49074005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatgtgcttttacctgaCgatactgctctctcttttgt	7	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:49074005C>T	uc002itc.2	-	16	2098	c.1889G>A	c.(1888-1890)CGT>CAT	p.R630H	SPAG9_uc002itb.2_Missense_Mutation_p.R616H|SPAG9_uc002itd.2_Missense_Mutation_p.R620H|SPAG9_uc002itf.2_Missense_Mutation_p.R451H|SPAG9_uc002ita.2_Missense_Mutation_p.R473H|SPAG9_uc002ite.2_Missense_Mutation_p.R460H	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	630					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTACCTGACGATACTGCTC	0.403													T	49074005	C	T	49074005	3	4	189	1	0	0	0	0	1	0	0	0	14985	536	19	1	2136	1	SPAG9	17	49074005	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	156345	49074005	32121205	4125	101982											
NME1-NME2	654364	broad.mit.edu	37	chr17	49245649	49245649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacattgacctgaaagaccGaccattcttccctgggctgg	9	13	1	3	rs138826459		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:49245649G>A	uc002itk.2	+	7	846	c.593G>A	c.(592-594)CGA>CAA	p.R198Q	NME1-NME2_uc002itj.2_Missense_Mutation_p.R173Q|NME2_uc002itl.2_Missense_Mutation_p.R58Q|NME2_uc002itm.2_Missense_Mutation_p.R58Q|NME2_uc002itn.2_Missense_Mutation_p.R58Q|NME2_uc002ito.2_Missense_Mutation_p.R58Q	NM_002512	NP_002503	P22392	NDKB_HUMAN	nucleoside diphosphate kinase B	58	Interaction with AKAP13.				cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CTGAAAGACCGACCATTCTTC	0.527													A	49245649	G	A	49245649	3	1	189	1	0	0	0	0	1	0	0	0	10490	1058	37	1	536	1	NME1-NME2	17	49245649	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	171644	49245649	31949561	4126	101983											
MBTD1	54799	broad.mit.edu	37	chr17	49284306	49284306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggtaggctgcagtctgTattgggaacttctactctca	12	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:49284306T>C	uc002itr.3	-	7	891	c.547A>G	c.(547-549)ACA>GCA	p.T183A	MBTD1_uc002itp.3_Missense_Mutation_p.T19A|MBTD1_uc002itq.3_Missense_Mutation_p.T183A	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	183	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CTGCAGTCTGTATTGGGAACT	0.378													C	49284306	T	C	49284306	3	2	189	1	0	0	0	0	1	0	0	0	9360	1638	57	3	1383	3	MBTD1	17	49284306	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	38657	49284306	31910904	4127	101984											
CA10	56934	broad.mit.edu	37	chr17	50008372	50008372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccccccgtgttgatgCgaagaggtgtcagaaagggg	15	10	1	3	rs148839711	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:50008372C>T	uc002itw.3	-	3	1243	c.257G>A	c.(256-258)CGC>CAC	p.R86H	CA10_uc002itv.3_Missense_Mutation_p.R92H|CA10_uc002itx.3_Missense_Mutation_p.R86H|CA10_uc002ity.3_Missense_Mutation_p.R86H|CA10_uc002itz.2_Missense_Mutation_p.R86H	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	86					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CGTGTTGATGCGAAGAGGTGT	0.498													T	50008372	C	T	50008372	3	4	189	1	0	0	0	0	1	0	0	0	2511	768	27	1	757	1	CA10	17	50008372	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	724066	50008372	31186838	4128	101985											
KIF2B	84643	broad.mit.edu	37	chr17	51900667	51900667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgaacaccccatgccGcccccgcccttatccccctt	5	22	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:51900667G>A	uc002iua.2	+	1	429	c.273G>A	c.(271-273)CCG>CCA	p.P91P		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	91					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			ovary(5)|skin(3)	8						ACCCCATGCCGCCCCCGCCCT	0.567													A	51900667	G	A	51900667	2	1	189	1	0	0	0	0	0	0	0	1	8298	1074	38	1		1	KIF2B	17	51900667	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1892295	51900667	29294543	4129	101986											
KIF2B	84643	broad.mit.edu	37	chr17	51902014	51902014	+	Frame_Shift_Del	DEL	A	A	-													ttaagatatgcaaacagagtAaaaaaattaaatgtagatgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:51902013_51902013TA>T	uc002iua.2	+	0	1775	c.1619_1619TA>T	c.(1618-1620)gtafs	p.V540fs	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	540					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R539R(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAAACAGAGTAAAAAAATTA	0.418													-	51902014	A	-	51902014	7	5	189	1	0	1	0	1	0	0	0	0	8298	349	13	0	1622	0	KIF2B	17	51902014	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1347	51902014	29293196	4130	101987											
COX11	1353	broad.mit.edu	37	chr17	53040139	53040140	+	Frame_Shift_Ins	INS	-	-	A													tgtgcccttcctttgcttcaINSaaaaaagtgtaagaaagagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:53040138_53040139C>CA	uc010wng.1	-	3	843_844	c.786_787G>TG	c.(784-789)tttgaafs	p.F262fs	COX11_uc010wne.1_Intron|COX11_uc010wnf.1_Intron|COX11_uc002iue.2_Non-coding_Transcript	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	Homo sapiens COX11 cytochrome c oxidase assembly homolog (yeast) (COX11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	262					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						TCCTTTGCTTCAAAAAAAGTGT	0.351													A	53040140	-	A	53040139	7	5	189	1	0	1	1	0	0	0	0	0	3763	127	5	0	114	0	COX11	17	53040139	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	1138125	53040139	28155071	4131	101988											
STXBP4	252983	broad.mit.edu	37	chr17	53078195	53078195	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggatacaacaaaacagtAcagattccaattacttcaga	5	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:53078195A>G	uc002iuf.1	+	7	732	c.525A>G	c.(523-525)GTA>GTG	p.V175V	STXBP4_uc010dcc.1_Silent_p.V100V|STXBP4_uc010dcd.1_Silent_p.V175V	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	175						cytoplasm	calcium ion binding			ovary(1)	1						ACAAAACAGTACAGATTCCAA	0.308													G	53078195	A	G	53078195	2	3	189	1	0	0	0	0	0	0	0	1	15354	378	14	3		3	STXBP4	17	53078195	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	38056	53078195	28117015	4132	101989											
DGKE	8526	broad.mit.edu	37	chr17	54912353	54912353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgggtggcgcgacacggAcctgttcagccagcccacct	13	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:54912353A>G	uc002iur.2	+	2	377	c.197A>G	c.(196-198)GAC>GGC	p.D66G	DGKE_uc002ius.1_Missense_Mutation_p.D66G|C17orf67_uc002iuq.2_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	66	Phorbol-ester/DAG-type 1.				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(2)	2	Breast(9;3.59e-07)					CGCGACACGGACCTGTTCAGC	0.677													G	54912353	A	G	54912353	3	3	189	1	0	0	0	0	1	0	0	0	4468	275	10	3	199	3	DGKE	17	54912353	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1834158	54912353	26282857	4133	101990											
TRIM25	7706	broad.mit.edu	37	chr17	54981735	54981735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcaaacttgctgttgaCcctcttctcctcttccttta	6	13	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:54981735C>T	uc002iut.2	-	3	868	c.808G>A	c.(808-810)GTC>ATC	p.V270I	TRIM25_uc010dcj.2_Missense_Mutation_p.V62I	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	270	Interaction with influenza A virus NS1.|Potential.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					TTGCTGTTGACCCTCTTCTCC	0.473													T	54981735	C	T	54981735	3	4	189	1	0	0	0	0	1	0	0	0	16496	507	18	4	1112	4	TRIM25	17	54981735	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	69382	54981735	26213475	4134	101991											
VEZF1	7716	broad.mit.edu	37	chr17	56060228	56060228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgtcgattgagatggTacacatctcggaaggccttc	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:56060228T>C	uc002ivf.1	-	2	703	c.560A>G	c.(559-561)TAC>TGC	p.Y187C	VEZF1_uc010dcn.1_Missense_Mutation_p.Y31C	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	187	C2H2-type 2.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						ATTGAGATGGTACACATCTCG	0.483													C	56060228	T	C	56060228	3	2	189	1	0	0	0	0	1	0	0	0	17152	1638	57	3	1025	3	VEZF1	17	56060228	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1078493	56060228	25134982	4135	101992											
SFRS1	6426	broad.mit.edu	37	chr17	56082772	56082772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaccaatcatcttatgTacgagagcgagatctgctat	9	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:56082772T>C	uc002ivi.2	-	4	951	c.742A>G	c.(742-744)ACA>GCA	p.T248A	SFRS1_uc002ivj.2_3'UTR	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	248				Missing: In RS-C; loss of ability to activate splicing but retains splice site switching.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.|Missing: In RS-B; retains both splice activation and splice site switching activity.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)		TCATCTTATGTACGAGAGCGA	0.418													C	56082772	T	C	56082772	3	2	189	1	0	0	0	0	1	0	0	0	14165	1638	57	3	8	3	SFRS1	17	56082772	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22544	56082772	25112438	4136	101993											
MKS1	54903	broad.mit.edu	37	chr17	56291683	56291683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtgttaatgacgtggTtgttcctgacaaactcttct	12	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:56291683T>C	uc002ivr.1	-	6	656	c.581A>G	c.(580-582)AAC>AGC	p.N194S	MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.N194S	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	194					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						AATGACGTGGTTGTTCCTGAC	0.547													C	56291683	T	C	56291683	3	2	189	1	0	0	0	0	1	0	0	0	9609	1725	60	3	1150	3	MKS1	17	56291683	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	208911	56291683	24903527	4137	101994											
BZRAP1	9256	broad.mit.edu	37	chr17	56385040	56385040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattgggcgacattgacaCggggtcatagtcaaacagag	14	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:56385040C>T	uc002ivx.3	-	24	5786	c.4915G>A	c.(4915-4917)GTG>ATG	p.V1639M	BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.V1579M|BZRAP1_uc010wnt.1_Missense_Mutation_p.V1639M	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1639	SH3 2.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACATTGACACGGGGTCATAG	0.552													T	56385040	C	T	56385040	3	4	189	1	0	0	0	0	1	0	0	0	1577	536	19	1	690	1	BZRAP1	17	56385040	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	93357	56385040	24810170	4138	101995											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	189	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	50121	56435161	24760049	4139	101996											
TEX14	56155	broad.mit.edu	37	chr17	56676460	56676460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaatatctgctcgatattcCtcagcctatcatcattctcg	4	13	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:56676460C>A	uc010dcz.1	-	14	2382	c.2264G>T	c.(2263-2265)AGG>ATG	p.R755M	TEX14_uc002iwr.1_Missense_Mutation_p.R749M|TEX14_uc002iws.1_Missense_Mutation_p.R749M|TEX14_uc010dda.1_Missense_Mutation_p.R529M	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	755	Potential.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGATATTCCTCAGCCTATC	0.418													A	56676460	C	A	56676460	3	1	189	1	0	0	0	0	1	0	0	0	15775	681	24	5	2309	5	TEX14	17	56676460	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	241299	56676460	24518750	4140	101997											
PPM1E	22843	broad.mit.edu	37	chr17	57057738	57057738	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccagtgctcagcaccagcCgacctaggctatgatgggcg	12	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:57057738C>A	uc002iwx.2	+	7	1741	c.1614C>A	c.(1612-1614)GCC>GCA	p.A538A	PPM1E_uc010ddd.2_Silent_p.A301A	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	547					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CAGCACCAGCCGACCTAGGCT	0.532													A	57057738	C	A	57057738	2	1	189	1	0	0	0	0	0	0	0	1	12338	639	23	5		5	PPM1E	17	57057738	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	381278	57057738	24137472	4141	101998											
PPM1E	22843	broad.mit.edu	37	chr17	57058186	57058186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtttaatccaaagtttTattcatttctctctgctcaa	4	9	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:57058186T>C	uc002iwx.2	+	7	2189	c.2062T>C	c.(2062-2064)TAT>CAT	p.Y688H	PPM1E_uc010ddd.2_Missense_Mutation_p.Y451H	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	697					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TCCAAAGTTTTATTCATTTCT	0.428													C	57058186	T	C	57058186	3	2	189	1	0	0	0	0	1	0	0	0	12338	1754	61	3	2088	3	PPM1E	17	57058186	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	448	57058186	24137024	4142	101999											
CLTC	1213	broad.mit.edu	37	chr17	57759679	57759679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatggcccgtaagaagGctcgagagtcctatgtggag	15	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:57759679G>A	uc002ixq.1	+	22	3933	c.3490G>A	c.(3490-3492)GCT>ACT	p.A1164T	CLTC_uc002ixp.2_Missense_Mutation_p.A1164T|CLTC_uc002ixr.1_Missense_Mutation_p.A1168T	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1164	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)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCGTAAGAAGGCTCGAGAGTC	0.393			T	ALK|TFE3	ALCL|renal 								A	57759679	G	A	57759679	3	1	189	1	0	0	0	0	1	0	0	0	3566	1203	42	2	3576	2	CLTC	17	57759679	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	701493	57759679	23435531	4143	102000											
PTRH2	51651	broad.mit.edu	37	chr17	57775295	57775295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagccaagccgagtgtActgggatgagccaaatattc	10	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:57775295A>G	uc002ixt.2	-	2	170	c.45T>C	c.(43-45)AGT>AGC	p.S15S	PTRH2_uc002ixs.2_RNA	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Bcl-2 inhibitor of transcription precursor	15					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGCCGAGTGTACTGGGATGAG	0.483													G	57775295	A	G	57775295	2	3	189	1	0	0	0	0	0	0	0	1	12817	388	14	3		3	PTRH2	17	57775295	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	15616	57775295	23419915	4144	102001											
HEATR6	63897	broad.mit.edu	37	chr17	58137347	58137347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgcaagcgatcattacGgagaagggggtaaaagccct	13	8	1	1	rs61752323		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:58137347G>A	uc002iyk.1	-	10	1544	c.1527C>T	c.(1525-1527)TCC>TCT	p.S509S	HEATR6_uc010ddk.1_Silent_p.S48S|HEATR6_uc010wos.1_Silent_p.S341S	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	509							binding			ovary(1)|skin(1)	2	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)			CGATCATTACGGAGAAGGGGG	0.453													A	58137347	G	A	58137347	2	1	189	1	0	0	0	0	0	0	0	1	7033	1103	39	1		1	HEATR6	17	58137347	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	362052	58137347	23057863	4145	102002											
HEATR6	63897	broad.mit.edu	37	chr17	58143675	58143676	+	Frame_Shift_Ins	INS	-	-	T													accagtagccataaagaactINStttttttctatcgattttat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:58143674_58143675C>CT	uc002iyk.1	-	8	1328_1329	c.1311_1312G>AG	c.(1309-1314)aaagttfs	p.K437fs	HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Frame_Shift_Ins_p.K269fs	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	437							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)			CCATAAAGAACTTTTTTTTCTA	0.386													T	58143676	-	T	58143675	7	5	189	1	0	1	1	0	0	0	0	0	7033	1606	56	0	2282	0	HEATR6	17	58143675	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	6328	58143675	23051535	4146	102003											
CA4	762	broad.mit.edu	37	chr17	58234823	58234823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacaaggccagcatttctGgaggaggactgcctgcccca	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:58234823G>A	uc002iym.3	+	4	398	c.304G>A	c.(304-306)GGA>AGA	p.G102R	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	102					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				0	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)	CAGCATTTCTGGAGGAGGACT	0.582													A	58234823	G	A	58234823	3	1	189	1	0	0	0	0	1	0	0	0	2518	1349	47	4	318	4	CA4	17	58234823	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	91148	58234823	22960387	4147	102004											
USP32	84669	broad.mit.edu	37	chr17	58297062	58297062	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagatgttagactgctgtgtCcgagtggcaggctgctgtct	14	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:58297062C>T	uc002iyo.1	-	16	2122	c.1836G>A	c.(1834-1836)CGG>CGA	p.R612R	USP32_uc002iyn.1_Silent_p.R282R	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	612					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTGCTGTGTCCGAGTGGCAG	0.443													T	58297062	C	T	58297062	2	4	189	1	0	0	0	0	0	0	0	1	17060	842	30	4		4	USP32	17	58297062	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	62239	58297062	22898148	4148	102005											
PPM1D	8493	broad.mit.edu	37	chr17	58734051	58734051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcagataacactagtgCcatagtaatctgcatctctc	7	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:58734051C>T	uc002iyt.1	+	5	1331	c.1109C>T	c.(1108-1110)GCC>GTC	p.A370V	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	370	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			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AACACTAGTGCCATAGTAATC	0.463													T	58734051	C	T	58734051	3	4	189	1	0	0	0	0	1	0	0	0	12337	739	26	2	1127	2	PPM1D	17	58734051	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	436989	58734051	22461159	4149	102006											
PPM1D	8493	broad.mit.edu	37	chr17	58740414	58740414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatatacctgccctggTtcgtagcaatgccttctcag	9	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:58740414T>C	uc002iyt.1	+	6	1541	c.1319T>C	c.(1318-1320)GTT>GCT	p.V440A	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	440					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			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CCTGCCCTGGTTCGTAGCAAT	0.413											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	C	58740414	T	C	58740414	3	2	189	1	0	0	0	0	1	0	0	0	12337	1725	60	3	1341	3	PPM1D	17	58740414	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6363	58740414	22454796	4150	102007											
TBX2	6909	broad.mit.edu	37	chr17	59479272	59479272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcctgtggccttccacaAgctgaagctgaccaacaaca	8	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:59479272A>G	uc010wox.1	+	2	904	c.623A>G	c.(622-624)AAG>AGG	p.K208R	TBX2_uc002ize.2_Missense_Mutation_p.K198R|TBX2_uc002izg.2_Missense_Mutation_p.K54R	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	208	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						GCCTTCCACAAGCTGAAGCTG	0.612													G	59479272	A	G	59479272	3	3	189	1	0	0	0	0	1	0	0	0	15652	72	3	3	629	3	TBX2	17	59479272	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	738858	59479272	21715938	4151	102008											
TBX4	9496	broad.mit.edu	37	chr17	59560530	59560530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtacaccagctatagcGtgcagacgatggagactgtg	13	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:59560530G>A	uc002izi.2	+	8	1336	c.1291G>A	c.(1291-1293)GTG>ATG	p.V431M	TBX4_uc010ddo.2_Missense_Mutation_p.V432M|TBX4_uc010woy.1_Missense_Mutation_p.V432M	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	431					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGCTATAGCGTGCAGACGAT	0.647													A	59560530	G	A	59560530	3	1	189	1	0	0	0	0	1	0	0	0	15657	1145	40	1	1321	1	TBX4	17	59560530	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	81258	59560530	21634680	4152	102009											
BRIP1	83990	broad.mit.edu	37	chr17	59861749	59861749	+	Frame_Shift_Del	DEL	T	T	-													tttaccataaattggtgagaTtttttcctctttttgaagaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:59861748_59861748AT>A	uc002izk.2	-	10	1817	c.1511_1511AT>T	c.(1510-1512)atcfs	p.I504fs		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	504					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						AATTGGTGAGATTTTTTCCTC	0.343			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					-	59861749	T	-	59861749	7	5	189	1	0	1	0	1	0	0	0	0	1514	1493	52	0	2279	0	BRIP1	17	59861749	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	301219	59861749	21333461	4153	102010											
MED13	9969	broad.mit.edu	37	chr17	60033126	60033126	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgcagcagatataccAcacattctacacatgtcttt	6	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:60033126A>G	uc002izo.2	-	25	5774	c.5697T>C	c.(5695-5697)TGT>TGC	p.C1899C		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1899					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			large_intestine(1)|ovary(1)	2						CAGATATACCACACATTCTAC	0.433													G	60033126	A	G	60033126	2	3	189	1	0	0	0	0	0	0	0	1	9430	157	6	3		3	MED13	17	60033126	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	171377	60033126	21162084	4154	102011											
MED13	9969	broad.mit.edu	37	chr17	60072676	60072676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttttaatttgatattgcTgcactaattcatcagaaact	6	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:60072676T>C	uc002izo.2	-	10	2095	c.2018A>G	c.(2017-2019)CAG>CGG	p.Q673R		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	673					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			large_intestine(1)|ovary(1)	2						TTGATATTGCTGCACTAATTC	0.294													C	60072676	T	C	60072676	3	2	189	1	0	0	0	0	1	0	0	0	9430	1580	55	3	4590	3	MED13	17	60072676	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	39550	60072676	21122534	4155	102012											
MARCH10	162333	broad.mit.edu	37	chr17	60814662	60814662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcttcagcttagtgttAcacatcaggccttcttgttg	9	11	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:60814662A>G	uc010ddr.2	-	6	805	c.567T>C	c.(565-567)TGT>TGC	p.C189C	MARCH10_uc002jag.3_Silent_p.C189C|MARCH10_uc010dds.2_Silent_p.C227C|MARCH10_uc002jah.2_Silent_p.C188C|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	189							ligase activity|zinc ion binding				0						GCTTAGTGTTACACATCAGGC	0.458													G	60814662	A	G	60814662	2	3	189	1	0	0	0	0	0	0	0	1	9299	389	14	3		3	MARCH10	17	60814662	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	741986	60814662	20380548	4156	102013											
ACE	1636	broad.mit.edu	37	chr17	61573878	61573878	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgggcagcgcctggcGtgagtgtcctccagccctcc	15	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:61573878G>A	uc002jau.1	+	23	3525	c.3503_splice	c.e23+1	p.A1168_splice	ACE_uc002jav.1_Splice_Site_p.A594_splice|ACE_uc010ddv.1_Splice_Site_p.A395_splice|ACE_uc010wpj.1_Intron|ACE_uc002jaw.1_Splice_Site|ACE_uc010wpk.1_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	AGCGCCTGGCGTGAGTGTCCT	0.622													A	61573878	G	A	61573878	5	1	189	1	0	0	0	0	0	0	1	0	136	1159	40	1	3797	1	ACE	17	61573878	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	759216	61573878	19621332	4157	102014											
MAP3K3	4215	broad.mit.edu	37	chr17	61770979	61770979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtatgaagctatggccGccatcttcaagattgccacc	9	12	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:61770979G>A	uc002jbg.2	+	16	2042	c.1723G>A	c.(1723-1725)GCC>ACC	p.A575T	MAP3K3_uc002jbe.2_Missense_Mutation_p.A606T|MAP3K3_uc002jbf.2_Missense_Mutation_p.A606T|MAP3K3_uc002jbh.2_Missense_Mutation_p.A602T|MAP3K3_uc010wpo.1_Missense_Mutation_p.A490T|MAP3K3_uc010wpp.1_Missense_Mutation_p.A571T	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	575	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			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						AGCTATGGCCGCCATCTTCAA	0.587													A	61770979	G	A	61770979	3	1	189	1	0	0	0	0	1	0	0	0	9251	1087	38	1	1882	1	MAP3K3	17	61770979	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	197101	61770979	19424231	4158	102015											
STRADA	92335	broad.mit.edu	37	chr17	61781717	61781717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctggcatccgggttgcGctgaaggcactgctccacaa	11	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:61781717G>A	uc002jbm.2	-	11	1243	c.1084C>T	c.(1084-1086)CGC>TGC	p.R362C	STRADA_uc002jbn.2_Missense_Mutation_p.R304C|STRADA_uc002jbo.2_Missense_Mutation_p.R325C|STRADA_uc002jbp.2_Missense_Mutation_p.R325C|STRADA_uc002jbq.2_Missense_Mutation_p.R304C|STRADA_uc010wpq.1_Intron|STRADA_uc010wpr.1_Intron|STRADA_uc010ddw.2_Missense_Mutation_p.R333C|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	362	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			ovary(1)	1						TCCGGGTTGCGCTGAAGGCAC	0.657													A	61781717	G	A	61781717	3	1	189	1	0	0	0	0	1	0	0	0	15323	1087	38	1	281	1	STRADA	17	61781717	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	10738	61781717	19413493	4159	102016											
SCN4A	6329	broad.mit.edu	37	chr17	62018253	62018253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtccggcgtcccctgcctCgcccttctcctccgggcttg	12	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:62018253C>T	uc002jds.1	-	24	5466	c.5389G>A	c.(5389-5391)GAG>AAG	p.E1797K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1797					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TCCCCTGCCTCGCCCTTCTCC	0.667													T	62018253	C	T	62018253	3	4	189	1	0	0	0	0	1	0	0	0	13920	893	31	1	125	1	SCN4A	17	62018253	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	236536	62018253	19176957	4160	102017											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856350	62856350	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcgagttttgtgaaagcggTatttttttctggaatgtacg	12	4	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:62856350T>A	uc002jey.2	-	11	4445	c.3914A>T	c.(3913-3915)TAC>TTC	p.Y1305F	LRRC37A3_uc010wqg.1_Missense_Mutation_p.Y423F|LRRC37A3_uc002jex.1_Missense_Mutation_p.Y282F|LRRC37A3_uc010wqf.1_Missense_Mutation_p.Y343F|LRRC37A3_uc010dek.1_Missense_Mutation_p.Y311F	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1305	Extracellular (Potential).					integral to membrane					0						GTGAAAGCGGTATTTTTTTCT	0.408													A	62856350	T	A	62856350	3	1	189	1	0	0	0	0	1	0	0	0	8993	1638	57	5	1006	5	LRRC37A3	17	62856350	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	838097	62856350	18338860	4161	102018											
RGS9	8787	broad.mit.edu	37	chr17	63221143	63221143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcacatggctcccagCccccatctgaccgtgtacac	9	18	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:63221143C>T	uc002jfe.2	+	18	1541	c.1431C>T	c.(1429-1431)AGC>AGT	p.S477S	RGS9_uc010dem.2_Silent_p.S474S|RGS9_uc002jfd.2_Silent_p.S474S|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.S248S	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	477					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			ovary(2)|skin(2)	4						TGGCTCCCAGCCCCCATCTGA	0.657													T	63221143	C	T	63221143	2	4	189	1	0	0	0	0	0	0	0	1	13313	738	26	2		2	RGS9	17	63221143	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	364793	63221143	17974067	4162	102019											
HELZ	9931	broad.mit.edu	37	chr17	65124796	65124796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattgctgctgtttgttggTacttcctgaatgctgcagtc	11	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:65124796T>C	uc010wqk.1	-	24	3548	c.3361A>G	c.(3361-3363)ACC>GCC	p.T1121A	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.T1120A	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTGTTGGTACTTCCTGAA	0.443													C	65124796	T	C	65124796	3	2	189	1	0	0	0	0	1	0	0	0	7049	1638	57	3	2510	3	HELZ	17	65124796	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1903653	65124796	16070414	4163	102020											
HELZ	9931	broad.mit.edu	37	chr17	65124955	65124955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgacacagggcaataaAccgttcccaaaatttcctac	5	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:65124955A>G	uc010wqk.1	-	24	3389	c.3202T>C	c.(3202-3204)TTT>CTT	p.F1068L	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.F1067L	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGGCAATAAACCGTTCCCAA	0.333													G	65124955	A	G	65124955	3	3	189	1	0	0	0	0	1	0	0	0	7049	43	2	3	2669	3	HELZ	17	65124955	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	159	65124955	16070255	4164	102021											
HELZ	9931	broad.mit.edu	37	chr17	65184543	65184543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatttctgtgttaaatgCtatcccgactttatacacgt	5	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:65184543C>T	uc010wqk.1	-	12	1241	c.1054G>A	c.(1054-1056)GCA>ACA	p.A352T	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.A352T	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGTTAAATGCTATCCCGACT	0.393													T	65184543	C	T	65184543	3	4	189	1	0	0	0	0	1	0	0	0	7049	797	28	2	4862	2	HELZ	17	65184543	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	59588	65184543	16010667	4165	102022											
PSMD12	5718	broad.mit.edu	37	chr17	65362568	65362568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtaggcgctgatccaccGtggcgctgtagtccacctcc	13	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:65362568G>A	uc002jfy.2	-	1	154	c.68C>T	c.(67-69)ACG>ATG	p.T23M	PSMD12_uc002jga.2_Missense_Mutation_p.T23M|PSMD12_uc002jfz.2_Translation_Start_Site|PSMD12_uc010det.1_Missense_Mutation_p.T23M	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	23					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				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CTGATCCACCGTGGCGCTGTA	0.701													A	65362568	G	A	65362568	3	1	189	1	0	0	0	0	1	0	0	0	12695	1145	40	1	1346	1	PSMD12	17	65362568	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	178025	65362568	15832642	4166	102023											
NOL11	25926	broad.mit.edu	37	chr17	65720235	65720235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaatatacactcttacttgGacaagacgaaaactctgtta	5	9	2	1	rs148391618		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:65720235G>A	uc002jgd.1	+	6	593	c.590G>A	c.(589-591)GGA>GAA	p.G197E	NOL11_uc010wql.1_Missense_Mutation_p.G15E|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	197						nucleolus					0	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)			CTCTTACTTGGACAAGACGAA	0.294													A	65720235	G	A	65720235	3	1	189	1	0	0	0	0	1	0	0	0	10521	1174	41	4	612	4	NOL11	17	65720235	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	357667	65720235	15474975	4167	102024											
BPTF	2186	broad.mit.edu	37	chr17	65889599	65889599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagaagggaagtatcgCgtctaccacaatcaatactc	9	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:65889599C>T	uc002jgf.2	+	6	2230	c.2169C>T	c.(2167-2169)CGC>CGT	p.R723R	BPTF_uc002jge.2_Silent_p.R849R|BPTF_uc010wqm.1_Silent_p.R786R	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	849	Interaction with MAZ.				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			ovary(2)|skin(2)	4	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)			GGAAGTATCGCGTCTACCACA	0.388													T	65889599	C	T	65889599	2	4	189	1	0	0	0	0	0	0	0	1	1495	755	27	1		1	BPTF	17	65889599	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	169364	65889599	15305611	4168	102025											
FAM20A	54757	broad.mit.edu	37	chr17	66538220	66538220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggaaggcagagagggAaccctccagcaggtgtgggt	18	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:66538220A>G	uc002jho.2	-	7	1303	c.1015T>C	c.(1015-1017)TCC>CCC	p.S339P	FAM20A_uc010wqp.1_Missense_Mutation_p.S201P|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Silent_p.V41V	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	339						extracellular region					0	Breast(10;1.64e-13)					GCAGAGAGGGAACCCTCCAGC	0.597													G	66538220	A	G	66538220	3	3	189	1	0	0	0	0	1	0	0	0	5537	246	9	3	630	3	FAM20A	17	66538220	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	648621	66538220	14656990	4169	102026											
ABCA8	10351	broad.mit.edu	37	chr17	66925370	66925370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctcattaagaaagccaaAgctacctaaaatgagagaag	8	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:66925370A>G	uc002jhp.2	-	8	1124	c.945T>C	c.(943-945)GCT>GCC	p.A315A	ABCA8_uc002jhq.2_Silent_p.A315A|ABCA8_uc010wqq.1_Silent_p.A315A|ABCA8_uc010wqr.1_Silent_p.A254A|ABCA8_uc002jhr.2_Silent_p.A315A	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	315	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					AGAAAGCCAAAGCTACCTAAA	0.368													G	66925370	A	G	66925370	2	3	189	1	0	0	0	0	0	0	0	1	38	59	3	3		3	ABCA8	17	66925370	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	387150	66925370	14269840	4170	102027											
ABCA10	10349	broad.mit.edu	37	chr17	67150037	67150037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcatacaactccaagtgCtctttcattgtaagcttggg	9	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:67150037C>A	uc010dfa.1	-	33	4779	c.3900G>T	c.(3898-3900)GAG>GAT	p.E1300D	ABCA10_uc010wqs.1_Missense_Mutation_p.E292D|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1300	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					ACTCCAAGTGCTCTTTCATTG	0.493													A	67150037	C	A	67150037	3	1	189	1	0	0	0	0	1	0	0	0	29	796	28	5	763	5	ABCA10	17	67150037	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	224667	67150037	14045173	4171	102028											
ABCA10	10349	broad.mit.edu	37	chr17	67215708	67215708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgctgactctcggagacCcatcactgtcatcagtttct	8	12	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:67215708C>T	uc010dfa.1	-	7	1387	c.508G>A	c.(508-510)GGT>AGT	p.G170S	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Missense_Mutation_p.G62S	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	170					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TCTCGGAGACCCATCACTGTC	0.318													T	67215708	C	T	67215708	3	4	189	1	0	0	0	0	1	0	0	0	29	623	22	4	4259	4	ABCA10	17	67215708	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	65671	67215708	13979502	4172	102029											
GPRC5C	55890	broad.mit.edu	37	chr17	72428192	72428192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcatgcgggggcgtggCagtcaacagcaacaacccac	13	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:72428192C>T	uc002jkp.2	+	1	526	c.15C>T	c.(13-15)GGC>GGT	p.G5G	GPRC5C_uc002jkq.2_Silent_p.G5G|GPRC5C_uc002jkr.2_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	Error:Variant_position_missing_in_Q9NQ84_after_alignment						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						GGGGGCGTGGCAGTCAACAGC	0.677													T	72428192	C	T	72428192	2	4	189	1	0	0	0	0	0	0	0	1	6726	697	25	2		2	GPRC5C	17	72428192	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5212484	72428192	8767018	4173	102030											
CD300LF	146722	broad.mit.edu	37	chr17	72691997	72691997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccctccaggggctgcagtAcctgggacagggaacacagg	15	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:72691997A>G	uc002jlg.2	-	6	687	c.584T>C	c.(583-585)GTA>GCA	p.V195A	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Missense_Mutation_p.V198A|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Silent_p.G210G|CD300LF_uc002jli.2_Silent_p.G160G|CD300LF_uc010wra.1_Missense_Mutation_p.V210A|CD300LF_uc002jlj.1_Silent_p.G205G	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	195	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						GGGCTGCAGTACCTGGGACAG	0.617													G	72691997	A	G	72691997	3	3	189	1	0	0	0	0	1	0	0	0	3001	405	14	3	296	3	CD300LF	17	72691997	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	263805	72691997	8503213	4174	102031											
TMEM104	54868	broad.mit.edu	37	chr17	72832138	72832138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggcacccgcccctggCtgacttctcgggggtccgga	17	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:72832138C>T	uc002jls.3	+	10	965	c.803C>T	c.(802-804)GCT>GTT	p.A268V	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.A268V	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	268	Extracellular (Potential).					integral to membrane					0	all_lung(278;0.23)					CCGCCCCTGGCTGACTTCTCG	0.627													T	72832138	C	T	72832138	3	4	189	1	0	0	0	0	1	0	0	0	16015	797	28	2	837	2	TMEM104	17	72832138	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	140141	72832138	8363072	4175	102032											
TMEM104	54868	broad.mit.edu	37	chr17	72832395	72832395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgggcctggccgctgtgCgctttttcctgggcctcttc	13	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:72832395C>T	uc002jls.3	+	10	1222	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.R354C	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	354	Extracellular (Potential).					integral to membrane					0	all_lung(278;0.23)					GGCCGCTGTGCGCTTTTTCCT	0.607													T	72832395	C	T	72832395	3	4	189	1	0	0	0	0	1	0	0	0	16015	768	27	1	1094	1	TMEM104	17	72832395	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	257	72832395	8362815	4176	102033											
FDXR	2232	broad.mit.edu	37	chr17	72860346	72860346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcacctgctgggggcttCggaaaaagcggaggccccag	16	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:72860346C>T	uc002jly.2	-	9	1013	c.926G>A	c.(925-927)CGA>CAA	p.R309Q	FDXR_uc010wri.1_Missense_Mutation_p.R257Q|FDXR_uc010wrj.1_Missense_Mutation_p.R307Q|FDXR_uc002jlw.2_Missense_Mutation_p.R66Q|FDXR_uc002jlx.2_Missense_Mutation_p.R315Q|FDXR_uc002jmc.2_Missense_Mutation_p.R281Q|FDXR_uc010wrk.1_Missense_Mutation_p.R340Q|FDXR_uc010wrl.1_Missense_Mutation_p.R352Q|FDXR_uc002jma.2_Missense_Mutation_p.R310Q|FDXR_uc010wrm.1_Missense_Mutation_p.R269Q|FDXR_uc002jlz.2_Missense_Mutation_p.R301Q|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	309					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGGGGGCTTCGGAAAAAGCG	0.652													T	72860346	C	T	72860346	3	4	189	1	0	0	0	0	1	0	0	0	5807	884	31	1	565	1	FDXR	17	72860346	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	27951	72860346	8334864	4177	102034											
C17orf28	283987	broad.mit.edu	37	chr17	72959143	72959143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagcagggactcggccaGgggcctggcatgctcatcat	15	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:72959143G>A	uc002jmj.3	-	4	570	c.421C>T	c.(421-423)CTG>TTG	p.L141L	C17orf28_uc010wrs.1_5'UTR|C17orf28_uc002jmk.2_Silent_p.L140L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	141						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					GACTCGGCCAGGGGCCTGGCA	0.647													A	72959143	G	A	72959143	2	1	189	1	0	0	0	0	0	0	0	1	1853	991	35	4		4	C17orf28	17	72959143	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	98797	72959143	8236067	4178	102035											
SLC16A5	9121	broad.mit.edu	37	chr17	73096199	73096199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcgctggcctcgatgggCgtctccctgggcatcaccct	12	16	2	0	rs142993518	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:73096199C>T	uc002jmr.2	+	5	813	c.441C>T	c.(439-441)GGC>GGT	p.G147G	SLC16A5_uc002jms.1_Silent_p.G147G|SLC16A5_uc002jmt.2_Silent_p.G147G|SLC16A5_uc002jmu.2_Silent_p.G147G|SLC16A5_uc010wrt.1_Silent_p.G187G	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	147	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCTCGATGGGCGTCTCCCTGG	0.642													T	73096199	C	T	73096199	2	4	189	1	0	0	0	0	0	0	0	1	14411	755	27	1		1	SLC16A5	17	73096199	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	137056	73096199	8099011	4179	102036											
SLC16A5	9121	broad.mit.edu	37	chr17	73096719	73096720	+	Frame_Shift_Del	DEL	GT	GT	-													tcaatgggctcactaacctgGtgtgtgcggcatcaggtgac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:73096718_73096719GGT>G	uc002jmr.3	+	4	1332_1333	c.960_961GGT>G	c.(958-963)ctggtgfs	p.L320fs	SLC16A5_uc002jmt.3_Frame_Shift_Del_p.L320fs|SLC16A5_uc002jmu.3_Frame_Shift_Del_p.L320fs|SLC16A5_uc010wrt.2_Frame_Shift_Del_p.L360fs	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	320					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)	TCACTAACCTGGTGTGTGCGGC	0.619													-	73096720	GT	-	73096719	7	5	189	1	0	1	0	1	0	0	0	0	14411	1261	44	0	971	0	SLC16A5	17	73096719	Frame_Shift_Del	DEL	GT	TCGA-CG-5721-01A-11D-1600-08	520	73096719	8098491	4180	102037											
RECQL5	9400	broad.mit.edu	37	chr17	73626707	73626707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggaactcactcatcagcGgtacgtgttgactggcggtt	13	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:73626707G>A	uc010dgl.2	-	13	1866	c.1710C>T	c.(1708-1710)ACC>ACT	p.T570T	RECQL5_uc010dgk.2_Silent_p.T543T|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	570					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			ACTCATCAGCGGTACGTGTTG	0.622								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	73626707	G	A	73626707	2	1	189	1	0	0	0	0	0	0	0	1	13203	1103	39	1		1	RECQL5	17	73626707	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	529988	73626707	7568503	4181	102038											
ITGB4	3691	broad.mit.edu	37	chr17	73745107	73745107	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagccccactccaccacCatcatcatcagggacccagg	8	19	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:73745107C>A	uc002jpg.2	+	27	3484	c.3297C>A	c.(3295-3297)ACC>ACA	p.T1099T	ITGB4_uc002jph.2_Silent_p.T1099T|ITGB4_uc002jpi.3_Silent_p.T1099T|ITGB4_uc002jpj.2_Silent_p.T1099T	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1099	Cytoplasmic (Potential).				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			lung(4)	4	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)			ACTCCACCACCATCATCATCA	0.582													A	73745107	C	A	73745107	2	1	189	1	0	0	0	0	0	0	0	1	7897	581	21	5		5	ITGB4	17	73745107	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	118400	73745107	7450103	4182	102039											
ITGB4	3691	broad.mit.edu	37	chr17	73748559	73748559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacatccctatcgtggacGcccagagcggggaggactac	13	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:73748559G>A	uc002jpg.2	+	32	4196	c.4009G>A	c.(4009-4011)GCC>ACC	p.A1337T	ITGB4_uc002jph.2_Missense_Mutation_p.A1337T|ITGB4_uc002jpi.3_Missense_Mutation_p.A1337T|ITGB4_uc002jpj.2_Missense_Mutation_p.A1337T|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1337	Cytoplasmic (Potential).				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			lung(4)	4	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)			TATCGTGGACGCCCAGAGCGG	0.662													A	73748559	G	A	73748559	3	1	189	1	0	0	0	0	1	0	0	0	7897	1087	38	1	4131	1	ITGB4	17	73748559	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3452	73748559	7446651	4183	102040											
TRIM47	91107	broad.mit.edu	37	chr17	73871509	73871509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatagtccctgggagcttcActctccaagaggttcgtact	9	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:73871509A>G	uc002jpw.2	-	5	1275	c.1248T>C	c.(1246-1248)AGT>AGC	p.S416S	TRIM47_uc002jpv.2_Silent_p.S178S	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	416	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			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)			TGGGAGCTTCACTCTCCAAGA	0.622													G	73871509	A	G	73871509	2	3	189	1	0	0	0	0	0	0	0	1	16519	156	6	3		3	TRIM47	17	73871509	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	122950	73871509	7323701	4184	102041											
EVPL	2125	broad.mit.edu	37	chr17	74010507	74010509	+	Splice_Site	DEL	CTT	CTT	-													tgtccctgccccagcctcacCttctgcgcctgcagcttgta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74010506_74010508CCTT>C	uc010wss.1	-	18	2667	c.2439_splice	c.e18+1	p.K813_splice	EVPL_uc002jqi.2_Splice_Site_p.K791_splice|EVPL_uc010wst.1_Splice_Site_p.K261_splice	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	791	Globular 1.				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						CCCAGCCTCACCTTCTGCGCCTG	0.67													-	74010509	CTT	-	74010507	8	5	189	1	0	1	0	1	0	0	1	0	5292	695	24	0	3748	0	EVPL	17	74010507	Splice_Site	DEL	CTT	TCGA-CG-5721-01A-11D-1600-08	138998	74010507	7184703	4185	102042											
EXOC7	23265	broad.mit.edu	37	chr17	74097856	74097856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaacattctcctgcagcCgctgcagattctccgtctgc	7	16	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74097856C>T	uc002jqs.2	-	3	310	c.215G>A	c.(214-216)CGG>CAG	p.R72Q	EXOC7_uc010dgv.1_Missense_Mutation_p.R19Q|EXOC7_uc002jqq.2_Missense_Mutation_p.R72Q|EXOC7_uc010wsw.1_Missense_Mutation_p.R72Q|EXOC7_uc010wsx.1_Missense_Mutation_p.R72Q|EXOC7_uc002jqr.2_Missense_Mutation_p.R72Q|EXOC7_uc010wsv.1_Missense_Mutation_p.R31Q|EXOC7_uc002jqu.2_Missense_Mutation_p.R72Q|EXOC7_uc002jqv.2_Missense_Mutation_p.R72Q	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	72	Potential.				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCTGCAGCCGCTGCAGATT	0.532													T	74097856	C	T	74097856	3	4	189	1	0	0	0	0	1	0	0	0	5310	652	23	1	2064	1	EXOC7	17	74097856	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	87349	74097856	7097354	4186	102043											
FOXJ1	2302	broad.mit.edu	37	chr17	74134076	74134076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcgccgcttcttgaaagcGccgctcagtagccgctccgc	11	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74134076G>A	uc002jqw.2	-	2	714	c.624C>T	c.(622-624)GGC>GGT	p.G208G	FOXJ1_uc002jqx.2_Silent_p.G208G|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	208	Fork-head.				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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TCTTGAAAGCGCCGCTCAGTA	0.672													A	74134076	G	A	74134076	2	1	189	1	0	0	0	0	0	0	0	1	6011	1074	38	1		1	FOXJ1	17	74134076	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	36220	74134076	7061134	4187	102044											
RNF157	114804	broad.mit.edu	37	chr17	74154490	74154490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctctccgagatgctgaAccgacggtctctgagagagc	11	12	2	4	rs79252974		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74154490A>G	uc002jqz.2	-	13	1466	c.1397T>C	c.(1396-1398)GTT>GCT	p.V466A	RNF157_uc002jra.2_Missense_Mutation_p.V466A	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	466	Ser-rich.						zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GAGATGCTGAACCGACGGTCT	0.532													G	74154490	A	G	74154490	3	3	189	1	0	0	0	0	1	0	0	0	13454	43	2	3	670	3	RNF157	17	74154490	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20414	74154490	7040720	4188	102045											
RNF157	114804	broad.mit.edu	37	chr17	74158016	74158016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgacagggcagaatcaagGtgtcccggacatccgagaga	15	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74158016G>A	uc002jqz.2	-	10	929	c.860C>T	c.(859-861)ACC>ATC	p.T287I	RNF157_uc002jra.2_Missense_Mutation_p.T287I	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	287	RING-type.						zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGAATCAAGGTGTCCCGGAC	0.572													A	74158016	G	A	74158016	3	1	189	1	0	0	0	0	1	0	0	0	13454	1261	44	4	1219	4	RNF157	17	74158016	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3526	74158016	7037194	4189	102046											
PRPSAP1	5635	broad.mit.edu	37	chr17	74344633	74344633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggtctcttgatatacaAcagacttccccaattcagca	5	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74344633A>G	uc010wta.1	-	2	646	c.200T>C	c.(199-201)GTT>GCT	p.V67A	PRPSAP1_uc010wtb.1_5'UTR	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	38					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						TTGATATACAACAGACTTCCC	0.224													G	74344633	A	G	74344633	3	3	189	1	0	0	0	0	1	0	0	0	12581	43	2	3	993	3	PRPSAP1	17	74344633	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	186617	74344633	6850577	4190	102047											
UBE2O	63893	broad.mit.edu	37	chr17	74392545	74392545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccacagtcatgttctTgaggctctccaggatcttga	9	12	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74392545T>G	uc002jrm.3	-	14	2538	c.2473A>C	c.(2473-2475)AAG>CAG	p.K825Q	UBE2O_uc002jrn.3_Missense_Mutation_p.K825Q|UBE2O_uc002jrl.3_Missense_Mutation_p.K429Q	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	825	Potential.						ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						GTCATGTTCTTGAGGCTCTCC	0.597													G	74392545	T	G	74392545	3	3	189	1	0	0	0	0	1	0	0	0	16865	1821	63	5	1425	5	UBE2O	17	74392545	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	47912	74392545	6802665	4191	102048											
JMJD6	23210	broad.mit.edu	37	chr17	74714908	74714908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttcttcctgcggTgcactgtcccatcgccctcg	7	19	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74714908T>C	uc002jso.2	-	6	1439	c.1115A>G	c.(1114-1116)CAC>CGC	p.H372R	JMJD6_uc002jsn.1_Missense_Mutation_p.H372R|JMJD6_uc010dgz.2_Missense_Mutation_p.T326A	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	372					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						CTTCCTGCGGTGCACTGTCCC	0.572													C	74714908	T	C	74714908	3	2	189	1	0	0	0	0	1	0	0	0	7953	1696	59	3	141	3	JMJD6	17	74714908	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	322363	74714908	6480302	4192	102049											
MFSD11	79157	broad.mit.edu	37	chr17	74737081	74737081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgcttcaaatttgatTacaccgtcagtggttgccat	7	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:74737081T>C	uc002jta.2	+	4	1168	c.195T>C	c.(193-195)ATT>ATC	p.I65I	MFSD11_uc002jtb.2_Silent_p.I65I|MFSD11_uc010dha.2_Silent_p.I65I|MFSD11_uc002jtc.2_Silent_p.I65I|MFSD11_uc002jtd.3_Silent_p.I65I|MFSD11_uc010dhb.2_Silent_p.I65I|MFSD11_uc002jte.2_Silent_p.I65I	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	65	Helical; (Potential).					integral to membrane				ovary(1)	1						CAAATTTGATTACACCGTCAG	0.358													C	74737081	T	C	74737081	2	2	189	1	0	0	0	0	0	0	0	1	9529	1742	61	3		3	MFSD11	17	74737081	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22173	74737081	6458129	4193	102050											
SEC14L1	6397	broad.mit.edu	37	chr17	75205464	75205464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggtccccaaatctctgtAccggactgcagaggagctgg	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:75205464A>G	uc002jto.2	+	14	1784	c.1517A>G	c.(1516-1518)TAC>TGC	p.Y506C	SEC14L1_uc010dhc.2_Missense_Mutation_p.Y506C|SEC14L1_uc010wth.1_Missense_Mutation_p.Y506C|SEC14L1_uc002jtm.2_Missense_Mutation_p.Y506C|SEC14L1_uc010wti.1_Missense_Mutation_p.Y472C|SEC14L1_uc010wtj.1_Missense_Mutation_p.Y66C|SEC14L1_uc002jtr.2_5'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	506					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						AAATCTCTGTACCGGACTGCA	0.537													G	75205464	A	G	75205464	3	3	189	1	0	0	0	0	1	0	0	0	13981	391	14	3	1563	3	SEC14L1	17	75205464	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	468383	75205464	5989746	4194	102051											
TNRC6C	57690	broad.mit.edu	37	chr17	76089187	76089187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatctcaaatggctctAgcatcaactggcccccaggt	7	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:76089187A>G	uc002jud.2	+	16	4744	c.4144A>G	c.(4144-4146)AGC>GGC	p.S1382G	TNRC6C_uc002juf.2_Missense_Mutation_p.S1379G	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1382	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAATGGCTCTAGCATCAACTG	0.507													G	76089187	A	G	76089187	3	3	189	1	0	0	0	0	1	0	0	0	16339	420	15	3	4194	3	TNRC6C	17	76089187	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	883723	76089187	5106023	4195	102052											
USP36	57602	broad.mit.edu	37	chr17	76803062	76803062	+	Frame_Shift_Del	DEL	T	T	-													ttcttggcagaaagggccagTtttttggctggtggaggaga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:76803061_76803061GT>G	uc002jvz.1	-	13	2390	c.2065_2065AC>C	c.(2065-2067)ctgfs	p.L689fs	USP36_uc002jwa.1_Frame_Shift_Del_p.L689fs|USP36_uc002jwb.1_Frame_Shift_Del_p.L326fs|USP36_uc002jwc.1_Frame_Shift_Del_p.L389fs	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	689					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)			GAAAGGGCCAGTTTTTTGGCT	0.552													-	76803062	T	-	76803062	7	5	189	1	0	1	0	1	0	0	0	0	17064	1722	60	0	1335	0	USP36	17	76803062	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	713875	76803062	4392148	4196	102053											
CBX4	8535	broad.mit.edu	37	chr17	77809108	77809108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctggcccttcccctgCgcgcccaaatccagcttggc	9	20	0	0	rs142055924		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:77809108C>T	uc002jxe.2	-	5	496	c.333G>A	c.(331-333)GCG>GCA	p.A111A		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	111	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTTCCCCTGCGCGCCCAAAT	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77809108	C	T	77809108	2	4	189	1	0	0	0	0	0	0	0	1	2720	755	27	1		1	CBX4	17	77809108	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1006046	77809108	3386102	4197	102054											
CCDC40	55036	broad.mit.edu	37	chr17	78063612	78063612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaactggcaaaagagatgCgttcctcagtggattccgag	11	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:78063612C>T	uc010dht.2	+	17	2788	c.2761C>T	c.(2761-2763)CGT>TGT	p.R921C	CCDC40_uc002jxm.3_Missense_Mutation_p.R704C|CCDC40_uc002jxn.3_Missense_Mutation_p.R317C	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	921	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAAAGAGATGCGTTCCTCAGT	0.522													T	78063612	C	T	78063612	3	4	189	1	0	0	0	0	1	0	0	0	2812	768	27	1	2827	1	CCDC40	17	78063612	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	254504	78063612	3131598	4198	102055											
EIF4A3	9775	broad.mit.edu	37	chr17	78111203	78111203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctggcgcccgaccggaacTccttcatgatggactcccgc	10	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:78111203T>A	uc010wuc.1	-	10	1038	c.965A>T	c.(964-966)GAG>GTG	p.E322V	EIF4A3_uc002jxs.2_Missense_Mutation_p.E322V	NM_014740	NP_055555	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A,	322	Helicase C-terminal.				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			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CGACCGGAACTCCTTCATGAT	0.542													A	78111203	T	A	78111203	3	1	189	1	0	0	0	0	1	0	0	0	5026	1551	54	5	286	5	EIF4A3	17	78111203	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	47591	78111203	3084007	4199	102056											
RNF213	57674	broad.mit.edu	37	chr17	78336981	78336981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaagaggtttccttacCgtgggtgcaccttgcctacc	12	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:78336981C>A	uc002jyh.1	+	15	5877	c.5654C>A	c.(5653-5655)CCG>CAG	p.P1885Q	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.P267Q	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTTTCCTTACCGTGGGTGCAC	0.527													A	78336981	C	A	78336981	3	1	189	1	0	0	0	0	1	0	0	0	13477	652	23	5	11908	5	RNF213	17	78336981	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	225778	78336981	2858229	4200	102057											
RNF213	57674	broad.mit.edu	37	chr17	78345686	78345686	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagctttcatgatgtAaaagattatattcaggaata	7	5	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:78345686A>G	uc002jyh.1	+	22	6880	c.6657A>G	c.(6655-6657)GTA>GTG	p.V2219V	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.V601V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTCATGATGTAAAAGATTATA	0.358													G	78345686	A	G	78345686	2	3	189	1	0	0	0	0	0	0	0	1	13477	349	13	3		3	RNF213	17	78345686	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8705	78345686	2849524	4201	102058											
RPTOR	57521	broad.mit.edu	37	chr17	78899241	78899241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtgcagacggggttctgCgactggagcgcccgctattt	15	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:78899241C>T	uc002jyt.1	+	24	3685	c.2880C>T	c.(2878-2880)TGC>TGT	p.C960C	RPTOR_uc010wug.1_Silent_p.C802C	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	960					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	p.C960C(1)		lung(4)|urinary_tract(1)|ovary(1)	6						CGGGGTTCTGCGACTGGAGCG	0.592													T	78899241	C	T	78899241	2	4	189	1	0	0	0	0	0	0	0	1	13665	776	27	1		1	RPTOR	17	78899241	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	553555	78899241	2295969	4202	102059											
PDE6G	5148	broad.mit.edu	37	chr17	79620296	79620296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccccggccaccctggTggctgaccggaactcagcct	12	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:79620296T>C	uc002kay.3	-	2	184	c.40A>G	c.(40-42)ACC>GCC	p.T14A	PDE6G_uc002kaz.3_Intron	NM_002602	NP_002593	P18545	CNRG_HUMAN	phosphodiesterase 6G	14					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity				0	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)			GCCACCCTGGTGGCTGACCGG	0.627													C	79620296	T	C	79620296	3	2	189	1	0	0	0	0	1	0	0	0	11649	1696	59	3	235	3	PDE6G	17	79620296	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	721055	79620296	1574914	4203	102060											
ANAPC11	51529	broad.mit.edu	37	chr17	79857828	79857828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgactgcccgctggtgTggggccagtgctcccactgc	15	15	0	0	rs34978095		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:79857828T>C	uc002kbv.1	+	4	357	c.142T>C	c.(142-144)TGG>CGG	p.W48R	ANAPC11_uc002kbw.1_Missense_Mutation_p.W48R|ANAPC11_uc002kbx.1_Missense_Mutation_p.W48R|ANAPC11_uc002kby.1_Missense_Mutation_p.V148A|ANAPC11_uc002kbz.1_Missense_Mutation_p.W48R|ANAPC11_uc002kca.1_Missense_Mutation_p.W48R|ANAPC11_uc002kcb.1_Missense_Mutation_p.W48R|ANAPC11_uc002kcc.1_Missense_Mutation_p.W48R|ANAPC11_uc010dih.1_Missense_Mutation_p.W48R|NPB_uc002kcd.2_5'Flank	NM_016476	NP_057560	Q9NYG5	APC11_HUMAN	APC11 anaphase promoting complex subunit 11	48	RING-type.				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	zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCCGCTGGTGTGGGGCCAGTG	0.632													C	79857828	T	C	79857828	3	2	189	1	0	0	0	0	1	0	0	0	600	1696	59	3	453	3	ANAPC11	17	79857828	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	237532	79857828	1337382	4204	102061											
PCYT2	5833	broad.mit.edu	37	chr17	79864701	79864701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggctccttcccagaaGcaaactggatgatcttctga	11	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:79864701G>A	uc002kcf.1	-	7	674	c.611C>T	c.(610-612)GCT>GTT	p.A204V	PCYT2_uc010wva.1_Missense_Mutation_p.A172V|PCYT2_uc010wvb.1_Missense_Mutation_p.A172V|PCYT2_uc002kce.1_Missense_Mutation_p.A126V|PCYT2_uc002kcg.1_Missense_Mutation_p.A233V|PCYT2_uc002kch.1_Missense_Mutation_p.A222V|PCYT2_uc002kci.1_Missense_Mutation_p.A163V|PCYT2_uc010dii.1_Missense_Mutation_p.A204V|PCYT2_uc010wvc.1_Missense_Mutation_p.A126V	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	204	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTCCCAGAAGCAAACTGGAT	0.597													A	79864701	G	A	79864701	3	1	189	1	0	0	0	0	1	0	0	0	11612	971	34	2	586	2	PCYT2	17	79864701	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6873	79864701	1330509	4205	102062											
PCYT2	5833	broad.mit.edu	37	chr17	79867402	79867402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttaccatcggtgtgcaCgcctacgatgaggtagtcac	12	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:79867402C>T	uc002kcf.1	-	2	229	c.166G>A	c.(166-168)GTG>ATG	p.V56M	PCYT2_uc010wva.1_Missense_Mutation_p.V24M|PCYT2_uc010wvb.1_Missense_Mutation_p.V24M|PCYT2_uc002kce.1_Translation_Start_Site|PCYT2_uc002kcg.1_Missense_Mutation_p.V67M|PCYT2_uc002kch.1_Missense_Mutation_p.V56M|PCYT2_uc002kci.1_Translation_Start_Site|PCYT2_uc010dii.1_Missense_Mutation_p.V56M|PCYT2_uc010wvc.1_Translation_Start_Site	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	56	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCGGTGTGCACGCCTACGATG	0.637													T	79867402	C	T	79867402	3	4	189	1	0	0	0	0	1	0	0	0	11612	536	19	1	1109	1	PCYT2	17	79867402	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2701	79867402	1327808	4206	102063											
ASPSCR1	79058	broad.mit.edu	37	chr17	79968697	79968697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctctgagggtcctgtTccccgaccgctacgtcctac	12	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:79968697T>C	uc002kcx.2	+	10	1287	c.1190T>C	c.(1189-1191)TTC>TCC	p.F397S	ASPSCR1_uc002kcw.1_Missense_Mutation_p.F397S|ASPSCR1_uc002kcy.2_Missense_Mutation_p.F397S|ASPSCR1_uc002kcz.2_Missense_Mutation_p.F291S|ASPSCR1_uc002kda.2_Missense_Mutation_p.F320S	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	397	UBX.						protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	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)			AGGGTCCTGTTCCCCGACCGC	0.701			T	TFE3	alveolar soft part sarcoma								C	79968697	T	C	79968697	3	2	189	1	0	0	0	0	1	0	0	0	1059	1783	62	3	1228	3	ASPSCR1	17	79968697	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	101295	79968697	1226513	4207	102064											
ASPSCR1	79058	broad.mit.edu	37	chr17	79973078	79973078	+	Frame_Shift_Del	DEL	T	T	-													cgtggactctgggaggcttcTtttttggggtccatccagag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:79973077_79973077CT>C	uc002kcy.3	+	12	1577	c.1480_1480CT>C	c.(1480-1482)cttfs	p.L494fs	ASPSCR1_uc002kcx.3_Intron|ASPSCR1_uc021ufj.1_Intron|ASPSCR1_uc002kda.3_Intron	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	494							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)			TGGGAGGCTTCTTTTTTGGGG	0.622			T	TFE3	alveolar soft part sarcoma								-	79973078	T	-	79973078	7	5	189	1	0	1	0	1	0	0	0	0	1059	1624	56	0		0	ASPSCR1	17	79973078	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	4381	79973078	1222132	4208	102065											
CCDC57	284001	broad.mit.edu	37	chr17	80159721	80159721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtgtcctgcagagccgCctcctgcagctgggtgcggt	15	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:80159721C>T	uc002kdz.1	-	3	455	c.100G>A	c.(100-102)GCG>ACG	p.A34T	CCDC57_uc002kdx.1_Missense_Mutation_p.A34T	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	34	Potential.									ovary(2)	2	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)			TGCAGAGCCGCCTCCTGCAGC	0.657													T	80159721	C	T	80159721	3	4	189	1	0	0	0	0	1	0	0	0	2827	739	26	2	2711	2	CCDC57	17	80159721	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	186643	80159721	1035489	4209	102066											
CD7	924	broad.mit.edu	37	chr17	80274701	80274701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccggaaccgtctgtccGtagtgggcaccaccccgtcc	12	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:80274701G>A	uc002kel.1	-	2	348	c.239C>T	c.(238-240)ACG>ATG	p.T80M	CD7_uc010din.2_Missense_Mutation_p.T80M|CD7_uc002kem.2_Silent_p.Y61Y|CD7_uc010wvk.1_Missense_Mutation_p.T80M	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	80	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	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)			CCGTCTGTCCGTAGTGGGCAC	0.637													A	80274701	G	A	80274701	3	1	189	1	0	0	0	0	1	0	0	0	3032	1145	40	1	495	1	CD7	17	80274701	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	114980	80274701	920509	4210	102067											
C17orf62	79415	broad.mit.edu	37	chr17	80402337	80402337	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttacctgcggtggcccatGactgcactctgcgtgagggg	14	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:80402337G>A	uc002kez.2	-	5	477	c.429C>T	c.(427-429)GTC>GTT	p.V143V	C17orf62_uc002kex.2_5'UTR|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Silent_p.V143V|C17orf62_uc010dir.2_Silent_p.V143V|C17orf62_uc002kfb.3_Silent_p.V143V|C17orf62_uc002kfc.3_Silent_p.V129V|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	143						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGTGGCCCATGACTGCACTCT	0.632													A	80402337	G	A	80402337	2	1	189	1	0	0	0	0	0	0	0	1	1870	1277	45	4		4	C17orf62	17	80402337	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	127636	80402337	792873	4211	102068											
B3GNTL1	146712	broad.mit.edu	37	chr17	80915107	80915107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcttgttctcgtccaCgtcacagaatgccaccacct	6	16	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr17:80915107C>T	uc002kgg.1	-	10	894	c.880G>A	c.(880-882)GTG>ATG	p.V294M	B3GNTL1_uc002kgf.1_Missense_Mutation_p.V183M|B3GNTL1_uc002kge.1_RNA	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal	294							transferase activity, transferring glycosyl groups			ovary(1)|pancreas(1)	2	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTCTCGTCCACGTCACAGAAT	0.637													T	80915107	C	T	80915107	3	4	189	1	0	0	0	0	1	0	0	0	1265	536	19	1	217	1	B3GNTL1	17	80915107	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	512770	80915107	280103	4212	102069											
CETN1	1068	broad.mit.edu	37	chr18	580755	580755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggctctttgatgacgAtgagaccgggaagatctcgt	12	9	3	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:580755A>G	uc002kko.1	+	1	389	c.347A>G	c.(346-348)GAT>GGT	p.D116G		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	116	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						TTTGATGACGATGAGACCGGG	0.522													G	580755	A	G	580755	3	3	189	1	0	0	0	0	1	0	0	0	3274	333	12	3	349	3	CETN1	18	580755	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08		580755	77496493	4213	102070											
CLUL1	27098	broad.mit.edu	37	chr18	633332	633332	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgatttcaaagatgttAcctgggcaggacagaggact	13	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:633332A>G	uc002kkp.2	+	6	1036	c.891A>G	c.(889-891)TTA>TTG	p.L297L	CLUL1_uc010wys.1_Silent_p.L349L|CLUL1_uc002kkq.2_Silent_p.L297L	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	297					cell death	extracellular region				ovary(2)	2						CAAAGATGTTACCTGGGCAGG	0.428													G	633332	A	G	633332	2	3	189	1	0	0	0	0	0	0	0	1	3570	388	14	3		3	CLUL1	18	633332	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	52577	633332	77443916	4214	102071											
ENOSF1	55556	broad.mit.edu	37	chr18	677751	677751	+	Frame_Shift_Del	DEL	T	T	-													cagcacgcttactttcaaacTttttggccatcagcaatact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:677750_677750CT>C	uc010dkf.3	-	11	1073	c.1062_1062AG>G	c.(1060-1062)aagfs	p.K354fs	ENOSF1_uc002kku.4_Frame_Shift_Del_p.K347fs|ENOSF1_uc002kkt.4_Frame_Shift_Del_p.K265fs|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_Frame_Shift_Del_p.K166fs	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	347					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						TACTTTCAAACTTTTTGGCCA	0.507													-	677751	T	-	677751	7	5	189	1	0	1	0	1	0	0	0	0	5125	1609	56	0	307	0	ENOSF1	18	677751	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	44419	677751	77399497	4215	102072											
YES1	7525	broad.mit.edu	37	chr18	745763	745763	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattgtgctctggttgtgatAtagtatccaccattgtcaag	9	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:745763A>T	uc002kky.2	-	6	890	c.669T>A	c.(667-669)TAT>TAA	p.Y223*	YES1_uc002kkz.2_Nonsense_Mutation_p.Y223*	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	223	SH2.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	TGGTTGTGATATAGTATCCAC	0.358													T	745763	A	T	745763	4	4	189	1	0	0	0	0	0	1	0	0	17471	456	16	5	990	5	YES1	18	745763	Nonsense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	68012	745763	77331485	4216	102073											
METTL4	64863	broad.mit.edu	37	chr18	2544269	2544269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctggaatggggagcaCgtttacatctgcattcctaa	12	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:2544269C>T	uc002klh.3	-	8	1978	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	METTL4_uc010dkj.2_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	400					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2						ATGGGGAGCACGTTTACATCT	0.348													T	2544269	C	T	2544269	3	4	189	1	0	0	0	0	1	0	0	0	9502	536	19	1	228	1	METTL4	18	2544269	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1798506	2544269	75532979	4217	102074											
NDC80	10403	broad.mit.edu	37	chr18	2575051	2575051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctgaaagaaaagtctcGctatttggcaaaaggtaatt	8	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:2575051G>A	uc002kli.2	+	3	347	c.165G>A	c.(163-165)TCG>TCA	p.S55S		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	55	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			ovary(1)	1						GAAAAGTCTCGCTATTTGGCA	0.308													A	2575051	G	A	2575051	2	1	189	1	0	0	0	0	0	0	0	1	10242	1074	38	1		1	NDC80	18	2575051	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	30782	2575051	75502197	4218	102075											
SMCHD1	23347	broad.mit.edu	37	chr18	2703788	2703788	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacactttttaagggagtAattacacgtcctgatcttcc	6	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:2703788A>G	uc002klm.3	+	13	1935	c.1746A>G	c.(1744-1746)GTA>GTG	p.V582V	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	582					chromosome organization		ATP binding				0						TTAAGGGAGTAATTACACGTC	0.388													G	2703788	A	G	2703788	2	3	189	1	0	0	0	0	0	0	0	1	14788	349	13	3		3	SMCHD1	18	2703788	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	128737	2703788	75373460	4219	102076											
LPIN2	9663	broad.mit.edu	37	chr18	2921586	2921586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttagacggggcaaacagaTtcttgatatcatttagacac	9	8	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:2921586T>C	uc002klo.2	-	18	2626	c.2387A>G	c.(2386-2388)AAT>AGT	p.N796S		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	796	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			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGCAAACAGATTCTTGATATC	0.398													C	2921586	T	C	2921586	3	2	189	1	0	0	0	0	1	0	0	0	8919	1493	52	3	315	3	LPIN2	18	2921586	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	217798	2921586	75155662	4220	102077											
MYOM1	8736	broad.mit.edu	37	chr18	3100193	3100193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctgagagcaagtaaacGtttcaattctgtagggggaa	13	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:3100193G>A	uc002klp.2	-	25	4025	c.3691C>T	c.(3691-3693)CGT>TGT	p.R1231C	MYOM1_uc002klq.2_Missense_Mutation_p.R1135C	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1231						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GCAAGTAAACGTTTCAATTCT	0.368													A	3100193	G	A	3100193	3	1	189	1	0	0	0	0	1	0	0	0	10091	1145	40	1	1422	1	MYOM1	18	3100193	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	178607	3100193	74977055	4221	102078											
ARHGAP28	79822	broad.mit.edu	37	chr18	6909002	6909002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattcagaaccaaaggttaTatgaaattggaggaaatata	9	3	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:6909002T>C	uc010wzi.1	+	16	1781	c.1543T>C	c.(1543-1545)TAT>CAT	p.Y515H	ARHGAP28_uc002kne.2_Missense_Mutation_p.Y533H			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	515					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CCAAAGGTTATATGAAATTGG	0.269													C	6909002	T	C	6909002	3	2	189	1	0	0	0	0	1	0	0	0	877	1406	49	3	1798	3	ARHGAP28	18	6909002	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3808809	6909002	71168246	4222	102079											
LAMA1	284217	broad.mit.edu	37	chr18	7014024	7014024	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatcgcaccgatgatgagtCgaccccacgagactgcaatt	9	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:7014024C>T	uc002knm.2	-	23	3247	c.3153G>A	c.(3151-3153)TCG>TCA	p.S1051S	LAMA1_uc010wzj.1_Silent_p.S527S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1051	Laminin EGF-like 12.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGATGAGTCGACCCCACGA	0.483													T	7014024	C	T	7014024	2	4	189	1	0	0	0	0	0	0	0	1	8605	871	31	1		1	LAMA1	18	7014024	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	105022	7014024	71063224	4223	102080											
RAB12	201475	broad.mit.edu	37	chr18	8636358	8636358	+	Splice_Site	DEL	A	A	-													gatgacattctgaaaaaggtAaaaaaaagaatctacattat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:8636357_8636357TA>T	uc002knp.3	+	5	904	c.621_splice	c.e5+2	p.K207_splice		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.	207					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						CTGAAAAAGGTAAAAAAAAGA	0.328													-	8636358	A	-	8636358	8	5	189	1	0	1	0	1	0	0	1	0	12898	377	13	0		0	RAB12	18	8636358	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1622334	8636358	69440890	4224	102081											
KIAA0802	23255	broad.mit.edu	37	chr18	8784591	8784591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcccttaccggggcctgGcctccagggcgaagaggagc	16	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:8784591G>A	uc002knr.2	+	6	1623	c.1481G>A	c.(1480-1482)GGC>GAC	p.G494D	KIAA0802_uc002knq.2_Missense_Mutation_p.G494D|KIAA0802_uc010dkw.1_Missense_Mutation_p.G332D	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	845											0						CCGGGGCCTGGCCTCCAGGGC	0.667													A	8784591	G	A	8784591	3	1	189	1	0	0	0	0	1	0	0	0	8194	1203	42	2	1495	2	KIAA0802	18	8784591	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	148233	8784591	69292657	4225	102082											
SEH1L	81929	broad.mit.edu	37	chr18	12982630	12982630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatataacaggaacggTgctagcatcttcaggagatg	12	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:12982630T>C	uc002krr.2	+	7	1013	c.875T>C	c.(874-876)GTG>GCG	p.V292A	SEH1L_uc002krq.2_Missense_Mutation_p.V292A	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN	sec13-like protein isoform 2	292	WD 6.				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					0						ACAGGAACGGTGCTAGCATCT	0.413													C	12982630	T	C	12982630	3	2	189	1	0	0	0	0	1	0	0	0	14009	1696	59	3	901	3	SEH1L	18	12982630	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4198039	12982630	65094618	4226	102083											
CEP192	55125	broad.mit.edu	37	chr18	13117599	13117599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccagctgaagtttttgagtCccagagagccattctatgtc	9	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:13117599C>T	uc010xac.1	+	44	7512	c.7432C>T	c.(7432-7434)CCC>TCC	p.P2478S	CEP192_uc010xad.1_Missense_Mutation_p.P2003S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.P901S|CEP192_uc002krw.2_Missense_Mutation_p.P628S|CEP192_uc002krx.2_Missense_Mutation_p.P482S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2478										ovary(4)|pancreas(1)	5						GTTTTTGAGTCCCAGAGAGCC	0.348													T	13117599	C	T	13117599	3	4	189	1	0	0	0	0	1	0	0	0	3251	855	30	4	7602	4	CEP192	18	13117599	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	134969	13117599	64959649	4227	102084											
C18orf19	125228	broad.mit.edu	37	chr18	13682058	13682058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtcgagatacagtccGtggtacattccattgcattt	9	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:13682058G>A	uc010dlh.2	-	3	451	c.19C>T	c.(19-21)CGG>TGG	p.R7W	C18orf19_uc010dlg.2_Missense_Mutation_p.R7W|C18orf19_uc010dli.2_Missense_Mutation_p.R7W|C18orf19_uc002ksj.3_Missense_Mutation_p.R7W|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	7						integral to membrane				breast(2)	2						GATACAGTCCGTGGTACATTC	0.368													A	13682058	G	A	13682058	3	1	189	1	0	0	0	0	1	0	0	0	1896	1144	40	1	811	1	C18orf19	18	13682058	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	564459	13682058	64395190	4228	102085											
RNMT	8731	broad.mit.edu	37	chr18	13731863	13731863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgttccaaaagataAatcttctactggagatggca	10	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:13731863A>G	uc002ksk.1	+	2	414	c.347A>G	c.(346-348)AAA>AGA	p.K116R	RNMT_uc002ksl.1_Missense_Mutation_p.K116R|RNMT_uc002ksm.1_Missense_Mutation_p.K116R|RNMT_uc010dlk.2_Missense_Mutation_p.K116R|RNMT_uc010xae.1_Intron	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	116					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						CCAAAAGATAAATCTTCTACT	0.343													G	13731863	A	G	13731863	3	3	189	1	0	0	0	0	1	0	0	0	13506	14	1	3	349	3	RNMT	18	13731863	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	49805	13731863	64345385	4229	102086											
MC5R	4161	broad.mit.edu	37	chr18	13826335	13826335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacgtcatcctgtgcctcAtctccatgttcttcgctatg	6	15	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:13826335A>G	uc010xaf.1	+	1	571	c.571A>G	c.(571-573)ATC>GTC	p.I191V		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	191	Helical; Name=5; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						CCTGTGCCTCATCTCCATGTT	0.587													G	13826335	A	G	13826335	3	3	189	1	0	0	0	0	1	0	0	0	9367	217	8	3	573	3	MC5R	18	13826335	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	94472	13826335	64250913	4230	102087											
ESCO1	114799	broad.mit.edu	37	chr18	19153442	19153442	+	Frame_Shift_Del	DEL	T	T	-													ttcagaattaatttctttcaTtttttcctgctggcaagtta							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:19153441_19153441AT>A	uc002kth.1	-	3	2298	c.1364_1364AT>T	c.(1363-1365)atgfs	p.M455fs	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	455					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						AATTTCTTTCATTTTTTCCTG	0.333													-	19153442	T	-	19153442	7	5	189	1	0	1	0	1	0	0	0	0	5248	1493	52	0	1195	0	ESCO1	18	19153442	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	5327107	19153442	58923806	4231	102088											
ABHD3	171586	broad.mit.edu	37	chr18	19283615	19283615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcgaccctcccagcAccagaccgtcgggtagtacg	10	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:19283615A>G	uc002ktl.2	-	2	396	c.256T>C	c.(256-258)TGC>CGC	p.C86R	ABHD3_uc002ktm.2_Missense_Mutation_p.C86R|ABHD3_uc010xao.1_RNA|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Missense_Mutation_p.C86R	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	86						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						CCCTCCCAGCACCAGACCGTC	0.532													G	19283615	A	G	19283615	3	3	189	1	0	0	0	0	1	0	0	0	83	159	6	3	1005	3	ABHD3	18	19283615	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	130173	19283615	58793633	4232	102089											
MIB1	57534	broad.mit.edu	37	chr18	19418353	19418353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttttactatctaaattAccaagaccatggattgtgga	8	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:19418353A>G	uc002ktq.2	+	13	1857	c.1857A>G	c.(1855-1857)TTA>TTG	p.L619L	MIB1_uc002ktp.2_Silent_p.L258L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	619	ANK 6.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			TATCTAAATTACCAAGACCAT	0.338													G	19418353	A	G	19418353	2	3	189	1	0	0	0	0	0	0	0	1	9566	388	14	3		3	MIB1	18	19418353	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	134738	19418353	58658895	4233	102090											
GATA6	2627	broad.mit.edu	37	chr18	19762729	19762729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttttaggtgcccagaccActtgctatgaaaaaagaggg	10	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:19762729A>G	uc002ktt.1	+	5	1705	c.1440A>G	c.(1438-1440)CCA>CCG	p.P480P	GATA6_uc002ktu.1_Silent_p.P480P	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	480					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			central_nervous_system(3)	3	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)			TGCCCAGACCACTTGCTATGA	0.318													G	19762729	A	G	19762729	2	3	189	1	0	0	0	0	0	0	0	1	6258	146	6	3		3	GATA6	18	19762729	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	344376	19762729	58314519	4234	102091											
CTAGE1	64693	broad.mit.edu	37	chr18	19996570	19996570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagatctttggctcgctttCggtaggtctccagctcttca	9	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:19996570C>T	uc002ktv.1	-	1	1309	c.1205G>A	c.(1204-1206)CGA>CAA	p.R402Q		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	402	Potential.					integral to membrane				ovary(1)	1	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)					GGCTCGCTTTCGGTAGGTCTC	0.358													T	19996570	C	T	19996570	3	4	189	1	0	0	0	0	1	0	0	0	3992	884	31	1	1036	1	CTAGE1	18	19996570	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	233841	19996570	58080678	4235	102092											
C18orf45	85019	broad.mit.edu	37	chr18	20889670	20889670	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggttgcactggtcaggatCgcatcaaacagcaatattga	11	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:20889670C>T	uc002kuf.2	-	14	913	c.804G>A	c.(802-804)GCG>GCA	p.A268A	C18orf45_uc010xaq.1_RNA|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA|C18orf45_uc002kue.2_RNA	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	hypothetical protein LOC85019	268	Helical; (Potential).					integral to membrane					0	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)					TGGTCAGGATCGCATCAAACA	0.408													T	20889670	C	T	20889670	2	4	189	1	0	0	0	0	0	0	0	1	1903	871	31	1		1	C18orf45	18	20889670	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	893100	20889670	57187578	4236	102093											
RIOK3	8780	broad.mit.edu	37	chr18	21044566	21044566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatgaagtagtatgtgggAgaaagaacacagcaagaatg	13	3	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21044566A>G	uc002kui.3	+	5	1134	c.517A>G	c.(517-519)AGA>GGA	p.R173G	RIOK3_uc010dls.2_Missense_Mutation_p.R173G|RIOK3_uc010xas.1_Missense_Mutation_p.R157G|RIOK3_uc010xat.1_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	173					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	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)					AGTATGTGGGAGAAAGAACAC	0.338													G	21044566	A	G	21044566	3	3	189	1	0	0	0	0	1	0	0	0	13379	296	11	3	535	3	RIOK3	18	21044566	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	154896	21044566	57032682	4237	102094											
NPC1	4864	broad.mit.edu	37	chr18	21123433	21123433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattacctaagaaaaatgctAcagtctcagaaaaggatgac	7	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21123433A>G	uc002kum.3	-	14	2505	c.2231T>C	c.(2230-2232)GTA>GCA	p.V744A	NPC1_uc010xaz.1_Missense_Mutation_p.V477A|NPC1_uc010xba.1_Missense_Mutation_p.V589A	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	744	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			ovary(2)	2	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)					GAAAAATGCTACAGTCTCAGA	0.488													G	21123433	A	G	21123433	3	3	189	1	0	0	0	0	1	0	0	0	10570	391	14	3	1653	3	NPC1	18	21123433	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	78867	21123433	56953815	4238	102095											
NPC1	4864	broad.mit.edu	37	chr18	21128008	21128008	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctctggagcttctctgtAtcattatagtaattattgac	7	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21128008A>G	uc002kum.3	-	11	1993	c.1719T>C	c.(1717-1719)GAT>GAC	p.D573D	NPC1_uc010xaz.1_Intron|NPC1_uc010xba.1_Silent_p.D418D	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	573					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			ovary(2)	2	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)					GCTTCTCTGTATCATTATAGT	0.448													G	21128008	A	G	21128008	2	3	189	1	0	0	0	0	0	0	0	1	10570	446	16	3		3	NPC1	18	21128008	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4575	21128008	56949240	4239	102096											
NPC1	4864	broad.mit.edu	37	chr18	21136572	21136572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagggtcacagcaggacgCctctcctggaagaacgggag	15	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21136572C>T	uc002kum.3	-	8	1235	c.961G>A	c.(961-963)GCG>ACG	p.A321T	NPC1_uc010xaz.1_Missense_Mutation_p.A122T|NPC1_uc010xba.1_Missense_Mutation_p.A166T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	321					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			ovary(2)	2	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)					CAGCAGGACGCCTCTCCTGGA	0.567													T	21136572	C	T	21136572	3	4	189	1	0	0	0	0	1	0	0	0	10570	739	26	2	2947	2	NPC1	18	21136572	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8564	21136572	56940676	4240	102097											
NPC1	4864	broad.mit.edu	37	chr18	21140278	21140278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgatgacatacatggcGtccaagccaaggatcgtcca	9	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21140278G>A	uc002kum.3	-	6	1072	c.798C>T	c.(796-798)GAC>GAT	p.D266D	NPC1_uc010xaz.1_Silent_p.D50D|NPC1_uc010xba.1_Silent_p.D111D	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	266					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			ovary(2)	2	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)					CATACATGGCGTCCAAGCCAA	0.517													A	21140278	G	A	21140278	2	1	189	1	0	0	0	0	0	0	0	1	10570	1136	40	1		1	NPC1	18	21140278	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3706	21140278	56936970	4241	102098											
NPC1	4864	broad.mit.edu	37	chr18	21141338	21141338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacctgaaaacacaggaGtgatggtaaaaggtgcctgt	11	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21141338G>A	uc002kum.3	-	5	891	c.617C>T	c.(616-618)ACT>ATT	p.T206I	NPC1_uc010xaz.1_5'Flank|NPC1_uc010xba.1_Missense_Mutation_p.T51I	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	206					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			ovary(2)	2	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)					AAACACAGGAGTGATGGTAAA	0.373													A	21141338	G	A	21141338	3	1	189	1	0	0	0	0	1	0	0	0	10570	1029	36	4	3303	4	NPC1	18	21141338	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1060	21141338	56935910	4242	102099											
LAMA3	3909	broad.mit.edu	37	chr18	21494727	21494727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtaaaccagaaacacccgGagtctatgacatggatggta	10	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21494727G>A	uc002kuq.2	+	58	7633	c.7547G>A	c.(7546-7548)GGA>GAA	p.G2516E	LAMA3_uc002kur.2_Missense_Mutation_p.G2460E|LAMA3_uc002kus.3_Missense_Mutation_p.G907E|LAMA3_uc002kut.3_Missense_Mutation_p.G851E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2516	Laminin G-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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	GAAACACCCGGAGTCTATGAC	0.338													A	21494727	G	A	21494727	3	1	189	1	0	0	0	0	1	0	0	0	8607	1174	41	4	7952	4	LAMA3	18	21494727	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	353389	21494727	56582521	4243	102100											
LAMA3	3909	broad.mit.edu	37	chr18	21523805	21523805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaggactggtgtttcAcacgggcactaagaactcct	10	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21523805A>G	uc002kuq.2	+	69	9166	c.9080A>G	c.(9079-9081)CAC>CGC	p.H3027R	LAMA3_uc002kur.2_Missense_Mutation_p.H2971R|LAMA3_uc002kus.3_Missense_Mutation_p.H1418R|LAMA3_uc002kut.3_Missense_Mutation_p.H1362R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3027	Laminin G-like 4.				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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	CTGGTGTTTCACACGGGCACT	0.473													G	21523805	A	G	21523805	3	3	189	1	0	0	0	0	1	0	0	0	8607	159	6	3	9529	3	LAMA3	18	21523805	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	29078	21523805	56553443	4244	102101											
TTC39C	125488	broad.mit.edu	37	chr18	21698147	21698147	+	Frame_Shift_Del	DEL	A	A	-													tttgattcctttgagaggctAaaaaatgagtccaggtggtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:21698146_21698146TA>T	uc002kuw.3	+	7	1588	c.1136_1136TA>T	c.(1135-1137)ctafs	p.L379fs	TTC39C_uc002kuu.3_Frame_Shift_Del_p.L318fs	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	379							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTGAGAGGCTAAAAAATGAG	0.448													-	21698147	A	-	21698147	7	5	189	1	0	1	0	1	0	0	0	0	16706	349	13	0	1167	0	TTC39C	18	21698147	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	174342	21698147	56379101	4245	102102											
ZNF521	25925	broad.mit.edu	37	chr18	22804898	22804898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcactctggagaggcAtcttgcaaatccggcagttt	9	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:22804898A>G	uc002kvk.2	-	4	3231	c.2984T>C	c.(2983-2985)ATG>ACG	p.M995T	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M995T|ZNF521_uc002kvl.2_Missense_Mutation_p.M775T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	995					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGGAGAGGCATCTTGCAAAT	0.483			T	PAX5	ALL								G	22804898	A	G	22804898	3	3	189	1	0	0	0	0	1	0	0	0	17962	217	8	3	971	3	ZNF521	18	22804898	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1106751	22804898	55272350	4246	102103											
SS18	6760	broad.mit.edu	37	chr18	23614972	23614972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtacaaagctttaccgtAgccctgctgctgtcctgggt	10	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:23614972A>G	uc002kvm.2	-	9	1171	c.1093T>C	c.(1093-1095)TAC>CAC	p.Y365H	SS18_uc002kvn.2_Missense_Mutation_p.Y334H|SS18_uc010xbf.1_Missense_Mutation_p.Y283H|SS18_uc010xbg.1_Missense_Mutation_p.Y282H|SS18_uc010xbh.1_Missense_Mutation_p.Y282H|SS18_uc010xbi.1_Missense_Mutation_p.Y342H|SS18_uc010dlz.1_Missense_Mutation_p.Y313H	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	365	2.|Gln-rich.|2 X 13 AA imperfect tandem repeats.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GCTTTACCGTAGCCCTGCTGC	0.423			T	SSX1| SSX2	synovial sarcoma								G	23614972	A	G	23614972	3	3	189	1	0	0	0	0	1	0	0	0	15174	420	15	3	175	3	SS18	18	23614972	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	810074	23614972	54462276	4247	102104											
PSMA8	143471	broad.mit.edu	37	chr18	23731934	23731934	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacataactcgcttcatagcAactttaaagcaggtaagcta	6	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:23731934A>G	uc002kvq.2	+	3	474	c.360A>G	c.(358-360)GCA>GCG	p.A120A	PSMA8_uc002kvo.2_Silent_p.A76A|PSMA8_uc002kvp.2_Silent_p.A114A|PSMA8_uc002kvr.2_Silent_p.A88A	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	120					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			skin(1)	1	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)			GCTTCATAGCAACTTTAAAGC	0.388													G	23731934	A	G	23731934	2	3	189	1	0	0	0	0	0	0	0	1	12673	117	5	3		3	PSMA8	18	23731934	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	116962	23731934	54345314	4248	102105											
PSMA8	143471	broad.mit.edu	37	chr18	23758901	23758901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctatcaagttagcaataaaAgctttgctagaagtaagtga	9	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:23758901A>G	uc002kvq.2	+	5	717	c.603A>G	c.(601-603)AAA>AAG	p.K201K	PSMA8_uc002kvo.2_Silent_p.K157K|PSMA8_uc002kvp.2_Silent_p.K195K|PSMA8_uc002kvr.2_Silent_p.K169K	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	201					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			skin(1)	1	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)			TAGCAATAAAAGCTTTGCTAG	0.318													G	23758901	A	G	23758901	2	3	189	1	0	0	0	0	0	0	0	1	12673	69	3	3		3	PSMA8	18	23758901	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	26967	23758901	54318347	4249	102106											
CHST9	83539	broad.mit.edu	37	chr18	24722666	24722666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttacctgtatgttgttcTtcaatccagacttgcaaata	7	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:24722666T>C	uc002kwd.2	-	1	306	c.108A>G	c.(106-108)GAA>GAG	p.E36E	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Silent_p.E36E	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	36	Lumenal (Potential).				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			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TATGTTGTTCTTCAATCCAGA	0.328													C	24722666	T	C	24722666	2	2	189	1	0	0	0	0	0	0	0	1	3411	1606	56	3		3	CHST9	18	24722666	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	963765	24722666	53354582	4250	102107											
DSC3	1825	broad.mit.edu	37	chr18	28602467	28602467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaccacccccactgtagtAcctacacattaaaaaataaa	2	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:28602467A>G	uc002kwj.3	-	7	932	c.777T>C	c.(775-777)GGT>GGC	p.G259G	DSC3_uc002kwi.3_Silent_p.G259G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	259	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCACTGTAGTACCTACACATT	0.373													G	28602467	A	G	28602467	2	3	189	1	0	0	0	0	0	0	0	1	4767	405	14	3		3	DSC3	18	28602467	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3879801	28602467	49474781	4251	102108											
DSG2	1829	broad.mit.edu	37	chr18	29116366	29116366	+	Frame_Shift_Del	DEL	A	A	-													caaaccacctggcatggcagAaaaatggaaaatagcacgcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:29116365_29116365GA>G	uc002kwu.4	+	10	1812	c.1624_1624GA>G	c.(1624-1626)gaafs	p.E542fs		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	542					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)			TGGCATGGCAGAAAAATGGAA	0.393													-	29116366	A	-	29116366	7	5	189	1	0	1	0	1	0	0	0	0	4777	246	9	0	1667	0	DSG2	18	29116366	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	513899	29116366	48960882	4252	102109											
MCART2	147407	broad.mit.edu	37	chr18	29340185	29340185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcatgatgcttgtggTtttgaagcaatgtctgaact	10	5	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:29340185T>C	uc002kxa.2	-	1	659	c.440A>G	c.(439-441)AAC>AGC	p.N147S		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	147	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			ATGCTTGTGGTTTTGAAGCAA	0.468													C	29340185	T	C	29340185	3	2	189	1	0	0	0	0	1	0	0	0	9370	1725	60	3	457	3	MCART2	18	29340185	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	223819	29340185	48737063	4253	102110											
FAM59A	64762	broad.mit.edu	37	chr18	29867755	29867755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcacaaacttatagcggtGcccctcacggatgaagtgga	11	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:29867755G>A	uc002kxl.2	-	4	861	c.805C>T	c.(805-807)CAC>TAC	p.H269Y	FAM59A_uc002kxk.1_Missense_Mutation_p.H269Y	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	269	CABIT.									ovary(1)|skin(1)	2						TTATAGCGGTGCCCCTCACGG	0.527													A	29867755	G	A	29867755	3	1	189	1	0	0	0	0	1	0	0	0	5592	1319	46	2	1834	2	FAM59A	18	29867755	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	527570	29867755	48209493	4254	102111											
C18orf34	374864	broad.mit.edu	37	chr18	30806796	30806797	+	Frame_Shift_Ins	INS	-	-	T													ccacttcaccttgagtgagtINStttttcaggaattcttctct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:30806795_30806796G>GT	uc010xbr.1	-	14	1759_1760	c.1617_1618C>AC	c.(1615-1620)aaactcfs	p.K539fs	C18orf34_uc010dme.1_Frame_Shift_Ins_p.K53fs|C18orf34_uc002kxn.2_Frame_Shift_Ins_p.K539fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Ins_p.K539fs|C18orf34_uc002kxp.3_Frame_Shift_Ins_p.K539fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	539										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CCTTGAGTGAGTTTTTTCAGGA	0.282													T	30806797	-	T	30806796	7	5	189	1	0	1	1	0	0	0	0	0	1902	1722	60	0	1018	0	C18orf34	18	30806796	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	939041	30806796	47270452	4255	102112											
C18orf34	374864	broad.mit.edu	37	chr18	30846912	30846912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttactgttattttgttaatAtcaatctcaagttttttatt	3	4	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:30846912A>T	uc002kxn.2	-	13	1519	c.1377T>A	c.(1375-1377)GAT>GAA	p.D459E	C18orf34_uc010dme.1_5'UTR|C18orf34_uc010xbr.1_Missense_Mutation_p.D459E|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.D459E|C18orf34_uc002kxp.2_Missense_Mutation_p.D459E	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	459	Potential.									ovary(1)	1						TTTTGTTAATATCAATCTCAA	0.284													T	30846912	A	T	30846912	3	4	189	1	0	0	0	0	1	0	0	0	1902	446	16	5	1266	5	C18orf34	18	30846912	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	40116	30846912	47230336	4256	102113											
C18orf34	374864	broad.mit.edu	37	chr18	30950126	30950126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgacgtcgacatgggTagctaaagtaaatgccttta	11	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:30950126T>C	uc002kxn.2	-	5	378	c.236A>G	c.(235-237)TAC>TGC	p.Y79C	C18orf34_uc010xbr.1_Missense_Mutation_p.Y79C|C18orf34_uc010dmf.1_Missense_Mutation_p.Y79C|C18orf34_uc002kxo.2_Missense_Mutation_p.Y79C|C18orf34_uc002kxp.2_Missense_Mutation_p.Y79C	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	79										ovary(1)	1						TCGACATGGGTAGCTAAAGTA	0.368													C	30950126	T	C	30950126	3	2	189	1	0	0	0	0	1	0	0	0	1902	1638	57	3	2439	3	C18orf34	18	30950126	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	103214	30950126	47127122	4257	102114											
ASXL3	80816	broad.mit.edu	37	chr18	31251755	31251755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacagttcagataaagaaAtgaaacatgggcaaaaatct	8	6	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:31251755A>G	uc010dmg.1	+	7	695	c.640A>G	c.(640-642)ATG>GTG	p.M214V	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AGATAAAGAAATGAAACATGG	0.333													G	31251755	A	G	31251755	3	3	189	1	0	0	0	0	1	0	0	0	1068	101	4	3	666	3	ASXL3	18	31251755	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	301629	31251755	46825493	4258	102115											
ASXL3	80816	broad.mit.edu	37	chr18	31324921	31324921	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggagcctctagtgtacaAcaaacacagaacatgaaagc	10	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:31324921A>C	uc010dmg.1	+	12	5164	c.5109A>C	c.(5107-5109)CAA>CAC	p.Q1703H	ASXL3_uc002kxq.2_Missense_Mutation_p.Q1410H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CTAGTGTACAACAAACACAGA	0.542													C	31324921	A	C	31324921	3	2	189	1	0	0	0	0	1	0	0	0	1068	40	2	5	5155	5	ASXL3	18	31324921	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	73166	31324921	46752327	4259	102116											
ASXL3	80816	broad.mit.edu	37	chr18	31325827	31325827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgaggtgggaggcacTgcacacacaatgccaaacaa	13	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:31325827T>C	uc010dmg.1	+	12	6070	c.6015T>C	c.(6013-6015)ACT>ACC	p.T2005T	ASXL3_uc002kxq.2_Silent_p.T1712T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TGGGAGGCACTGCACACACAA	0.323													C	31325827	T	C	31325827	2	2	189	1	0	0	0	0	0	0	0	1	1068	1567	55	3		3	ASXL3	18	31325827	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	906	31325827	46751421	4260	102117											
ELP2	55250	broad.mit.edu	37	chr18	33721158	33721158	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatatttgctcaacaaaaTgatcaggtaataatgtttat	5	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:33721158T>C	uc002kzk.1	+	6	592	c.582T>C	c.(580-582)AAT>AAC	p.N194N	ELP2_uc010xcg.1_Silent_p.N259N|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.N168N|ELP2_uc010xch.1_Silent_p.N233N|ELP2_uc002kzn.1_Silent_p.N168N|ELP2_uc002kzo.1_Intron	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	194	WD 4.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						CTCAACAAAATGATCAGGTAA	0.328													C	33721158	T	C	33721158	2	2	189	1	0	0	0	0	0	0	0	1	5080	1461	51	3		3	ELP2	18	33721158	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2395331	33721158	44356090	4261	102118											
ELP2	55250	broad.mit.edu	37	chr18	33750064	33750064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgactccactgatgactgTattgagcacaacattggccc	9	12	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:33750064T>C	uc002kzk.1	+	20	2125	c.2115T>C	c.(2113-2115)TGT>TGC	p.C705C	ELP2_uc010xcg.1_Silent_p.C770C|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.C679C|ELP2_uc010xch.1_Silent_p.C700C|ELP2_uc002kzn.1_Silent_p.C635C|ELP2_uc002kzo.1_Silent_p.C635C	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	705	WD 12.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						CTGATGACTGTATTGAGCACA	0.537													C	33750064	T	C	33750064	2	2	189	1	0	0	0	0	0	0	0	1	5080	1644	57	3		3	ELP2	18	33750064	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	28906	33750064	44327184	4262	102119											
SYT4	6860	broad.mit.edu	37	chr18	40853990	40853990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggactttaaactctcagggGaaactgactctttttcccct	7	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:40853990G>A	uc002law.2	-	2	773	c.404C>T	c.(403-405)TCC>TTC	p.S135F	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.S117F|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	135	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						ACTCTCAGGGGAAACTGACTC	0.433													A	40853990	G	A	40853990	3	1	189	1	0	0	0	0	1	0	0	0	15473	1174	41	4	885	4	SYT4	18	40853990	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7103926	40853990	37223258	4263	102120											
SLC14A2	8170	broad.mit.edu	37	chr18	43252904	43252904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaattggccaagtgtacGgctgtgataacccctggact	12	9	0	1	rs142459777	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:43252904G>A	uc010dnj.2	+	18	2590	c.2269G>A	c.(2269-2271)GGC>AGC	p.G757S	SLC14A2_uc002lbe.2_Missense_Mutation_p.G757S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	757						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CCAAGTGTACGGCTGTGATAA	0.488													A	43252904	G	A	43252904	3	1	189	1	0	0	0	0	1	0	0	0	14397	1116	39	1	2331	1	SLC14A2	18	43252904	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2398914	43252904	34824344	4264	102121											
KIAA1632	57724	broad.mit.edu	37	chr18	43438628	43438628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacactgaagcaagtagaCgtaaagagtcaagtaactgc	9	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:43438628C>T	uc002lbm.2	-	41	7229	c.7129G>A	c.(7129-7131)GTC>ATC	p.V2377I	KIAA1632_uc010xcq.1_Missense_Mutation_p.V931I|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.V1252I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2377					autophagy						0						AGCAAGTAGACGTAAAGAGTC	0.483													T	43438628	C	T	43438628	3	4	189	1	0	0	0	0	1	0	0	0	8249	536	19	1	626	1	KIAA1632	18	43438628	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	185724	43438628	34638620	4265	102122											
KIAA1632	57724	broad.mit.edu	37	chr18	43464646	43464646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttcaccacttgctcaTacagctgtatgaactctgca	6	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:43464646T>C	uc002lbm.2	-	30	5340	c.5240A>G	c.(5239-5241)TAT>TGT	p.Y1747C	KIAA1632_uc010xcq.1_Missense_Mutation_p.Y301C|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Y622C	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1747					autophagy						0						CACTTGCTCATACAGCTGTAT	0.428													C	43464646	T	C	43464646	3	2	189	1	0	0	0	0	1	0	0	0	8249	1406	49	3	2559	3	KIAA1632	18	43464646	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	26018	43464646	34612602	4266	102123											
HAUS1	115106	broad.mit.edu	37	chr18	43703311	43703311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcttctctgtctcatcagtCcttagtagcactatcagagg	8	11	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:43703311C>A	uc002lbu.2	+	6	727	c.647C>A	c.(646-648)TCC>TAC	p.S216Y	HAUS1_uc002lbv.2_Missense_Mutation_p.S140Y	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	coiled-coil domain containing 5	216					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1						TCTCATCAGTCCTTAGTAGCA	0.343													A	43703311	C	A	43703311	3	1	189	1	0	0	0	0	1	0	0	0	6965	855	30	5	669	5	HAUS1	18	43703311	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	238665	43703311	34373937	4267	102124											
TCEB3B	51224	broad.mit.edu	37	chr18	44560527	44560527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaattcctcagccatatctAcctcctccacctcagagagg	6	16	3	1	rs111815744		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:44560527A>G	uc002lcr.1	-	1	1462	c.1109T>C	c.(1108-1110)GTA>GCA	p.V370A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	370					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AGCCATATCTACCTCCTCCAC	0.507													G	44560527	A	G	44560527	3	3	189	1	0	0	0	0	1	0	0	0	15679	391	14	3	1156	3	TCEB3B	18	44560527	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	857216	44560527	33516721	4268	102125											
HDHD2	84064	broad.mit.edu	37	chr18	44639388	44639388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgccgacatcttgagcCccaccaacatcatccctgca	6	17	2	1	rs150843690		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:44639388C>T	uc002lcs.2	-	6	769	c.636G>A	c.(634-636)GGG>GGA	p.G212G	HDHD2_uc002lct.2_Silent_p.G122G	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	212							hydrolase activity				0						CATCTTGAGCCCCACCAACAT	0.378													T	44639388	C	T	44639388	2	4	189	1	0	0	0	0	0	0	0	1	7023	610	22	4		4	HDHD2	18	44639388	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	78861	44639388	33437860	4269	102126											
CXXC1	30827	broad.mit.edu	37	chr18	47808995	47808995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggagcgcaggtcggtagTgaggggatcgtgctggatcg	19	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:47808995T>C	uc002leq.3	-	15	2672	c.1939A>G	c.(1939-1941)ACT>GCT	p.T647A	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.T504A|CXXC1_uc002ler.3_Missense_Mutation_p.T651A|CXXC1_uc010doy.2_3'UTR	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	647					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			upper_aerodigestive_tract(1)|ovary(1)	2						AGGTCGGTAGTGAGGGGATCG	0.662													C	47808995	T	C	47808995	3	2	189	1	0	0	0	0	1	0	0	0	4097	1696	59	3	35	3	CXXC1	18	47808995	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3169607	47808995	30268253	4270	102127											
ME2	4200	broad.mit.edu	37	chr18	48446896	48446896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggttcttgagaaagTaccgagaaaaatattgtact	8	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:48446896T>C	uc002ley.2	+	8	1061	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	ME2_uc010dpd.2_Missense_Mutation_p.Y269H	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	269					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		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)	CTTGAGAAAGTACCGAGAAAA	0.338													C	48446896	T	C	48446896	3	2	189	1	0	0	0	0	1	0	0	0	9418	1638	57	3	831	3	ME2	18	48446896	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	637901	48446896	29630352	4271	102128											
CCDC68	80323	broad.mit.edu	37	chr18	52604149	52604149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaataatctctgggccacgTttctcagagctgctgctcct	8	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:52604149T>C	uc002lfs.2	-	6	558	c.386A>G	c.(385-387)AAC>AGC	p.N129S	CCDC68_uc002lft.2_Missense_Mutation_p.N129S	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	129	Potential.									skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		CTGGGCCACGTTTCTCAGAGC	0.428													C	52604149	T	C	52604149	3	2	189	1	0	0	0	0	1	0	0	0	2840	1725	60	3	649	3	CCDC68	18	52604149	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4157253	52604149	25473099	4272	102129											
TCF4	6925	broad.mit.edu	37	chr18	53254318	53254318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctctttgtccgtcccTaaggcagccattcgctgttg	9	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:53254318T>C	uc002lfz.2	-	2	642	c.30A>G	c.(28-30)TTA>TTG	p.L10L	TCF4_uc010xdx.1_5'Flank|TCF4_uc010dph.1_Silent_p.L10L|TCF4_uc010xdy.1_Intron|TCF4_uc002lga.2_Silent_p.L112L|TCF4_uc010dpi.2_Silent_p.L10L	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	10	Essential for MYOD1 inhibition (By similarity).				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			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGTCCGTCCCTAAGGCAGCCA	0.413													C	53254318	T	C	53254318	2	2	189	1	0	0	0	0	0	0	0	1	15692	1519	53	3		3	TCF4	18	53254318	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	650169	53254318	24822930	4273	102130											
TXNL1	9352	broad.mit.edu	37	chr18	54283492	54283492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattatctggcccttgAaatttcatggaataaagctt	6	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:54283492A>G	uc002lgg.2	-	5	795	c.546T>C	c.(544-546)TTT>TTC	p.F182F	TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Silent_p.F182F|TXNL1_uc002lgj.1_Silent_p.F182F	NM_004786	NP_004777	O43396	TXNL1_HUMAN	thioredoxin-like 1	182	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity				0				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CTGGCCCTTGAAATTTCATGG	0.328													G	54283492	A	G	54283492	2	3	189	1	0	0	0	0	0	0	0	1	16801	243	9	3		3	TXNL1	18	54283492	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1029174	54283492	23793756	4274	102131											
WDR7	23335	broad.mit.edu	37	chr18	54398627	54398627	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcaggtgcattggatcgTtgtgtgatggggataacagc	15	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:54398627T>C	uc002lgk.1	+	14	1999	c.1788T>C	c.(1786-1788)CGT>CGC	p.R596R	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.R596R	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	596	WD 7.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CATTGGATCGTTGTGTGATGG	0.348													C	54398627	T	C	54398627	2	2	189	1	0	0	0	0	0	0	0	1	17317	1712	60	3		3	WDR7	18	54398627	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	115135	54398627	23678621	4275	102132											
WDR7	23335	broad.mit.edu	37	chr18	54483318	54483318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcctgatgcctcagggCctgaagcaaaagtccaggag	13	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:54483318C>T	uc002lgk.1	+	20	3458	c.3247C>T	c.(3247-3249)CCT>TCT	p.P1083S	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.P1050S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1083										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCCTCAGGGCCTGAAGCAAA	0.458													T	54483318	C	T	54483318	3	4	189	1	0	0	0	0	1	0	0	0	17317	739	26	2	3321	2	WDR7	18	54483318	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	84691	54483318	23593930	4276	102133											
FECH	2235	broad.mit.edu	37	chr18	55238724	55238724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaatcctgcggtactgCtcttgaatcttgggggttcg	11	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:55238724C>T	uc002lgq.3	-	4	480	c.363G>A	c.(361-363)GAG>GAA	p.E121E	FECH_uc002lgp.3_Silent_p.E127E|FECH_uc002lgr.3_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	121					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				TGCGGTACTGCTCTTGAATCT	0.498													T	55238724	C	T	55238724	2	4	189	1	0	0	0	0	0	0	0	1	5808	796	28	2		2	FECH	18	55238724	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	755406	55238724	22838524	4277	102134											
NARS	4677	broad.mit.edu	37	chr18	55274419	55274419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccggtatgactgagcaatAcaaaaaacatctcccagggc	9	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:55274419A>G	uc002lgs.2	-	9	1176	c.948T>C	c.(946-948)TGT>TGC	p.C316C	NARS_uc002lgt.2_Silent_p.C315C|NARS_uc010xea.1_Silent_p.C67C|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_3'UTR|NARS_uc010xed.1_3'UTR	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	316					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	ACTGAGCAATACAAAAAACAT	0.438													G	55274419	A	G	55274419	2	3	189	1	0	0	0	0	0	0	0	1	10170	389	14	3		3	NARS	18	55274419	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	35695	55274419	22802829	4278	102135											
ALPK2	115701	broad.mit.edu	37	chr18	56202354	56202355	+	Frame_Shift_Del	DEL	TC	TC	-													tgctcgggcttccagggactTctctctctccctggactttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:56202353_56202354TTC>T	uc002lhj.4	-	4	5279_5280	c.5065_5066GAA>A	c.(5065-5067)aagfs	p.K1689fs	ALPK2_uc002lhk.1_Frame_Shift_Del_p.K1020fs	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1689							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						TTCCAGGGACTTCTCTCTCTCC	0.554													-	56202355	TC	-	56202354	7	5	189	1	0	1	0	1	0	0	0	0	545	1792	62	0	1483	0	ALPK2	18	56202354	Frame_Shift_Del	DEL	TC	TCGA-CG-5721-01A-11D-1600-08	927935	56202354	21874894	4279	102136											
ALPK2	115701	broad.mit.edu	37	chr18	56246328	56246328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcagagatgaagggtAccttctgttgtactttctct	11	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:56246328A>G	uc002lhj.3	-	4	1894	c.1680T>C	c.(1678-1680)GGT>GGC	p.G560G		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	560							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GATGAAGGGTACCTTCTGTTG	0.527											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	56246328	A	G	56246328	2	3	189	1	0	0	0	0	0	0	0	1	545	378	14	3		3	ALPK2	18	56246328	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	43974	56246328	21830920	4280	102137											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	189	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-CG-5721-01A-11D-1600-08	766957	57013285	21063963	4281	102138											
RNF152	220441	broad.mit.edu	37	chr18	59483265	59483265	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcctcctggggagccccAccttgcagaggctgctgttc	12	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:59483265A>G	uc002lih.1	-	2	844	c.432T>C	c.(430-432)GGT>GGC	p.G144G		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	144					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				GGGGAGCCCCACCTTGCAGAG	0.677													G	59483265	A	G	59483265	2	3	189	1	0	0	0	0	0	0	0	1	13453	146	6	3		3	RNF152	18	59483265	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2469980	59483265	18593983	4282	102139											
PIGN	23556	broad.mit.edu	37	chr18	59777147	59777147	+	Frame_Shift_Del	DEL	A	A	-													ggacaggcttgaatcagcagAaaaaatgctactaaaatgcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:59777146_59777146GA>G	uc021ulb.1	-	13	1527	c.1495_1495TC>C	c.(1495-1497)ctgfs	p.L499fs	PIGN_uc021ulc.1_Frame_Shift_Del_p.L125fs|PIGN_uc021uld.1_Frame_Shift_Del_p.L125fs	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	499					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.L499L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGAATCAGCAGAAAAAATGCT	0.388													-	59777147	A	-	59777147	7	5	189	1	0	1	0	1	0	0	0	0	11893	243	9	0	1361	0	PIGN	18	59777147	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	293882	59777147	18300101	4283	102140											
KIAA1468	57614	broad.mit.edu	37	chr18	59878464	59878464	+	Frame_Shift_Del	DEL	A	A	-													tggtaacagggaaacagatgAaaaagtggcaggtgagtaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:59878463_59878463GA>G	uc002lil.3	+	1	819	c.604_604GA>G	c.(604-606)gaafs	p.E202fs	KIAA1468_uc002lik.1_Frame_Shift_Del_p.E202fs|KIAA1468_uc010xel.2_Frame_Shift_Del_p.E202fs	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	202							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)				GGAAACAGATGAAAAAGTGGC	0.338													-	59878464	A	-	59878464	7	5	189	1	0	1	0	1	0	0	0	0	8236	246	9	0	611	0	KIAA1468	18	59878464	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	101317	59878464	18198784	4284	102141											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60029005	60029005	+	Frame_Shift_Del	DEL	A	A	-													tctttggcgtttgctataggAaaaaagggaaagcactcaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:60029004_60029004GA>G	uc002lin.3	+	6	746	c.708_708GA>G	c.(706-708)aggfs	p.R236fs	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	236					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|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)				TTTGCTATAGGAAAAAAGGGA	0.423													-	60029005	A	-	60029005	7	5	189	1	0	1	0	1	0	0	0	0	16281	247	9	0	735	0	TNFRSF11A	18	60029005	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	150541	60029005	18048243	4285	102142											
PHLPP1	23239	broad.mit.edu	37	chr18	60506064	60506064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttagcatttagctcctcTggaccccaaagccagactta	7	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:60506064T>C	uc002lis.2	+	4	463	c.285T>C	c.(283-285)TCT>TCC	p.S95S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	607	PH.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						TTAGCTCCTCTGGACCCCAAA	0.428													C	60506064	T	C	60506064	2	2	189	1	0	0	0	0	0	0	0	1	11854	1567	55	3		3	PHLPP1	18	60506064	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	477059	60506064	17571184	4286	102143											
VPS4B	9525	broad.mit.edu	37	chr18	61064287	61064287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaaaatgagtagctgActgtactttcctaacaggct	7	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:61064287A>G	uc002lix.2	-	9	1332	c.1072T>C	c.(1072-1074)TCA>CCA	p.S358P	VPS4B_uc010dpx.2_Missense_Mutation_p.S358P|VPS4B_uc010dpy.2_Missense_Mutation_p.S240P|VPS4B_uc010dpz.1_Missense_Mutation_p.S240P	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	358					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						TGAGTAGCTGACTGTACTTTC	0.294													G	61064287	A	G	61064287	3	3	189	1	0	0	0	0	1	0	0	0	17210	275	10	3	274	3	VPS4B	18	61064287	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	558223	61064287	17012961	4287	102144											
SERPINB12	89777	broad.mit.edu	37	chr18	61228376	61228376	+	Frame_Shift_Del	DEL	A	A	-													gattgaaagtgttgatttccAaaaaaaccctgaaaaatcca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:61228375_61228375CA>C	uc010xeo.2	+	3	502	c.502_502CA>C	c.(502-504)caafs	p.Q168fs	SERPINB12_uc010xen.2_Frame_Shift_Del_p.Q148fs	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	148					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Q167K(1)|p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCC	0.388													-	61228376	A	-	61228376	7	5	189	1	0	1	0	1	0	0	0	0	14099	130	5	0	457	0	SERPINB12	18	61228376	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	164089	61228376	16848872	4288	102145											
SERPINB10	5273	broad.mit.edu	37	chr18	61582880	61582880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatagtgtatttgggcGccaaaggtaccactgcagcc	11	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:61582880G>A	uc010xev.1	+	2	226	c.136G>A	c.(136-138)GCC>ACC	p.A46T	SERPINB2_uc002ljp.1_Missense_Mutation_p.A187T|SERPINB2_uc002ljq.1_Missense_Mutation_p.A160T|SERPINB10_uc010xew.1_Missense_Mutation_p.A46T	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	46						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)|skin(1)	3		Esophageal squamous(42;0.131)				GTATTTGGGCGCCAAAGGTAC	0.438													A	61582880	G	A	61582880	3	1	189	1	0	0	0	0	1	0	0	0	14097	1087	38	1	138	1	SERPINB10	18	61582880	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	354504	61582880	16494368	4289	102146											
DSEL	92126	broad.mit.edu	37	chr18	65178971	65178971	+	Frame_Shift_Del	DEL	T	T	-													ctctctccttttaaattttcTttttttgtccttattcattg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:65178970_65178970CT>C	uc002lke.1	-	1	4130	c.2906_2906AG>G	c.(2905-2907)agafs	p.R969fs	DSEL_uc021ulg.1_Frame_Shift_Del_p.R969fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	959						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)				TTTAAATTTTCTTTTTTTGTC	0.378													-	65178971	T	-	65178971	7	5	189	1	0	1	0	1	0	0	0	0	4775	1617	56	0	767	0	DSEL	18	65178971	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	3596091	65178971	12898277	4290	102147											
DSEL	92126	broad.mit.edu	37	chr18	65181836	65181836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaatgtcctgtaaacaTtaacgccatgatccatgggg	9	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:65181836T>C	uc002lke.1	-	2	1264	c.40A>G	c.(40-42)ATG>GTG	p.M14V		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	4						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CCTGTAAACATTAACGCCATG	0.388													C	65181836	T	C	65181836	3	2	189	1	0	0	0	0	1	0	0	0	4775	1493	52	3	3632	3	DSEL	18	65181836	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2865	65181836	12895412	4291	102148											
RTTN	25914	broad.mit.edu	37	chr18	67697273	67697273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgctgctttcccaGgcctcagagaatctaggttc	8	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:67697273G>T	uc002lkp.2	-	42	5788	c.5720C>A	c.(5719-5721)CCT>CAT	p.P1907H	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.P995H|RTTN_uc010dqp.2_Missense_Mutation_p.P159H	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1907							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TGCTTTCCCAGGCCTCAGAGA	0.398													T	67697273	G	T	67697273	3	4	189	1	0	0	0	0	1	0	0	0	13737	1000	35	5	992	5	RTTN	18	67697273	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2515437	67697273	10379975	4292	102149											
RTTN	25914	broad.mit.edu	37	chr18	67715294	67715294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactgttggactacagcaTaaatgtgttttgctcttagc	9	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:67715294T>C	uc002lkp.2	-	40	5522	c.5454A>G	c.(5452-5454)TTA>TTG	p.L1818L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L906L|RTTN_uc010dqp.2_Silent_p.L70L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1818							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GACTACAGCATAAATGTGTTT	0.438													C	67715294	T	C	67715294	2	2	189	1	0	0	0	0	0	0	0	1	13737	1403	49	3		3	RTTN	18	67715294	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	18021	67715294	10361954	4293	102150											
RTTN	25914	broad.mit.edu	37	chr18	67781679	67781679	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaatattacaaatggtAcctgtcagtaacttccatga	6	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:67781679A>T	uc002lkp.2	-	27	3751	c.3683_splice	c.e27+1	p.R1228_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.R316_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin								binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TACAAATGGTACCTGTCAGTA	0.343													T	67781679	A	T	67781679	5	4	189	1	0	0	0	0	0	0	1	0	13737	405	14	5	3087	5	RTTN	18	67781679	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	66385	67781679	10295569	4294	102151											
NETO1	81832	broad.mit.edu	37	chr18	70461635	70461635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccaaggtccttaaagtcAggatcttaaaaattgagaaa	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:70461635A>G	uc002lkw.2	-	5	758	c.474T>C	c.(472-474)CCT>CCC	p.P158P	NETO1_uc002lkx.1_Silent_p.P157P|NETO1_uc002lky.1_Silent_p.P158P	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	158	Extracellular (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCTTAAAGTCAGGATCTTAAA	0.299													G	70461635	A	G	70461635	2	3	189	1	0	0	0	0	0	0	0	1	10339	175	7	3		3	NETO1	18	70461635	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2679956	70461635	7615613	4295	102152											
ZNF407	55628	broad.mit.edu	37	chr18	72347596	72347596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagggaaacgtctgcaagTattgtgggaagatgtgtcga	14	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:72347596T>C	uc002llw.2	+	1	4678	c.4621T>C	c.(4621-4623)TAT>CAT	p.Y1541H	ZNF407_uc010xfc.1_Missense_Mutation_p.Y1541H|ZNF407_uc010dqu.1_Missense_Mutation_p.Y1541H|ZNF407_uc002llu.2_Missense_Mutation_p.Y1540H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1541	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGTCTGCAAGTATTGTGGGAA	0.507													C	72347596	T	C	72347596	3	2	189	1	0	0	0	0	1	0	0	0	17884	1638	57	3	4623	3	ZNF407	18	72347596	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1885961	72347596	5729652	4296	102153											
TSHZ1	10194	broad.mit.edu	37	chr18	72999834	72999834	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccgctggtgtccagcgtGgctgattcggtggcatcacc	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:72999834G>T	uc002lly.2	+	2	2900	c.2337G>T	c.(2335-2337)GTG>GTT	p.V779V		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	824						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		TGTCCAGCGTGGCTGATTCGG	0.572													T	72999834	G	T	72999834	2	4	189	1	0	0	0	0	0	0	0	1	16620	1335	47	5		5	TSHZ1	18	72999834	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	652238	72999834	5077414	4297	102154											
ZNF516	9658	broad.mit.edu	37	chr18	74091364	74091364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcttggccaggggcccCtgtgtggccgcgccatgtgg	18	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:74091364C>T	uc010dqx.1	-	3	2941	c.2706G>A	c.(2704-2706)CAG>CAA	p.Q902Q	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCAGGGGCCCCTGTGTGGCCG	0.711													T	74091364	C	T	74091364	2	4	189	1	0	0	0	0	0	0	0	1	17957	680	24	4		4	ZNF516	18	74091364	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1091530	74091364	3985884	4298	102155											
ZNF236	7776	broad.mit.edu	37	chr18	74624288	74624288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacaacgaggaccagaGcaggcgctcttacaggtagt	15	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:74624288G>T	uc002lmi.2	+	17	3086	c.2888G>T	c.(2887-2889)AGC>ATC	p.S963I	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	963					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		GAGGACCAGAGCAGGCGCTCT	0.542													T	74624288	G	T	74624288	3	4	189	1	0	0	0	0	1	0	0	0	17786	971	34	5	2954	5	ZNF236	18	74624288	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	532924	74624288	3452960	4299	102156											
ATP9B	374868	broad.mit.edu	37	chr18	77133944	77133944	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctcttcgagtctgagttCgtccacgtggtggccatctc	12	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:77133944C>T	uc002lmx.2	+	28	3131	c.3117C>T	c.(3115-3117)TTC>TTT	p.F1039F	ATP9B_uc002lmw.1_Silent_p.F1039F|ATP9B_uc002lna.2_Silent_p.F65F|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1039	Helical; (Potential).				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			ovary(3)	3		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)		AGTCTGAGTTCGTCCACGTGG	0.602													T	77133944	C	T	77133944	2	4	189	1	0	0	0	0	0	0	0	1	1199	883	31	1		1	ATP9B	18	77133944	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2509656	77133944	943304	4300	102157											
CTDP1	9150	broad.mit.edu	37	chr18	77456018	77456018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggtgccgctgtccaCggcgaccgtgtccatggtgc	15	14	0	0	rs143464787		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:77456018C>T	uc002lnh.1	+	3	587	c.440C>T	c.(439-441)ACG>ATG	p.T147M	CTDP1_uc002lni.1_Missense_Mutation_p.T147M|CTDP1_uc010drd.1_Missense_Mutation_p.T147M	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	147					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCGCTGTCCACGGCGACCGTG	0.617													T	77456018	C	T	77456018	3	4	189	1	0	0	0	0	1	0	0	0	4002	536	19	1	450	1	CTDP1	18	77456018	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	322074	77456018	621230	4301	102158											
ADNP2	22850	broad.mit.edu	37	chr18	77896522	77896522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaaggaaatagaactgTtgtcctcactcttttgggtg	10	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr18:77896522T>C	uc002lnw.2	+	4	3681	c.3226T>C	c.(3226-3228)TTG>CTG	p.L1076L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1076	Homeobox.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AATAGAACTGTTGTCCTCACT	0.318													C	77896522	T	C	77896522	2	2	189	1	0	0	0	0	0	0	0	1	324	1722	60	3		3	ADNP2	18	77896522	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	440504	77896522	180726	4302	102159											
MIER2	54531	broad.mit.edu	37	chr19	308808	308808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcacgcacgtggttcCggacgggacgtacttcctcc	14	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:308808C>T	uc002lok.1	-	11	1111	c.1102G>A	c.(1102-1104)GGA>AGA	p.G368R		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		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)		CACGTGGTTCCGGACGGGACG	0.697													T	308808	C	T	308808	3	4	189	1	0	0	0	0	1	0	0	0	9581	661	23	1	551	1	MIER2	19	308808	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08		308808	58820175	4303	102160											
MIER2	54531	broad.mit.edu	37	chr19	336173	336173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctccccagcgaggaggCctgcgaaggaagagaggcag	16	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:336173C>T	uc002lok.1	-	2	19	c.10G>A	c.(10-12)GCC>ACC	p.A4T		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		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)		AGCGAGGAGGCCTGCGAAGGA	0.647													T	336173	C	T	336173	3	4	189	1	0	0	0	0	1	0	0	0	9581	753	26	2	1679	2	MIER2	19	336173	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	27365	336173	58792810	4304	102161											
THEG	51298	broad.mit.edu	37	chr19	367122	367122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgggttttggcacggGgtcccactcttccaagaggg	15	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:367122G>T	uc002lol.2	-	7	895	c.856C>A	c.(856-858)CCC>ACC	p.P286T	THEG_uc002lom.2_Missense_Mutation_p.P262T	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	286					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		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)		TTTGGCACGGGGTCCCACTCT	0.587													T	367122	G	T	367122	3	4	189	1	0	0	0	0	1	0	0	0	15854	1232	43	5	291	5	THEG	19	367122	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	30949	367122	58761861	4305	102162											
SHC2	25759	broad.mit.edu	37	chr19	422254	422254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgcacaaggaagtccccGtcagctcgaagcatcctctc	8	16	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:422254G>A	uc002loq.3	-	11	1512	c.1512C>T	c.(1510-1512)GAC>GAT	p.D504D	SHC2_uc002lop.3_Silent_p.D245D	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	504	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		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)		GGAAGTCCCCGTCAGCTCGAA	0.701													A	422254	G	A	422254	2	1	189	1	0	0	0	0	0	0	0	1	14271	1136	40	1		1	SHC2	19	422254	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	55132	422254	58706729	4306	102163											
POLRMT	5442	broad.mit.edu	37	chr19	617784	617784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacgggggcacctggttcAtgacggagacatcagctgcg	14	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:617784A>G	uc002lpf.1	-	18	3544	c.3488T>C	c.(3487-3489)ATG>ACG	p.M1163T		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1163	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		CACCTGGTTCATGACGGAGAC	0.637													G	617784	A	G	617784	3	3	189	1	0	0	0	0	1	0	0	0	12238	217	8	3	220	3	POLRMT	19	617784	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	195530	617784	58511199	4307	102164											
POLRMT	5442	broad.mit.edu	37	chr19	621761	621761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggggcaaagcatgggtAcatccaccgcctcgaaggtc	15	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:621761A>G	uc002lpf.1	-	10	1993	c.1937T>C	c.(1936-1938)GTA>GCA	p.V646A		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	646					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		AAGCATGGGTACATCCACCGC	0.677													G	621761	A	G	621761	3	3	189	1	0	0	0	0	1	0	0	0	12238	391	14	3	1803	3	POLRMT	19	621761	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3977	621761	58507222	4308	102165											
PTBP1	5725	broad.mit.edu	37	chr19	808741	808741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catattcccgccctcggccaCgctgcacctctccaacatcc	5	21	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:808741C>T	uc002lpr.2	+	12	1470	c.1364C>T	c.(1363-1365)ACG>ATG	p.T455M	PTBP1_uc002lpp.2_Missense_Mutation_p.T481M|PTBP1_uc002lpq.2_Missense_Mutation_p.T474M|PTBP1_uc002lps.2_Missense_Mutation_p.T121M|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.T451M	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	455	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			kidney(1)|skin(1)	2		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)		CCCTCGGCCACGCTGCACCTC	0.662													T	808741	C	T	808741	3	4	189	1	0	0	0	0	1	0	0	0	12725	536	19	1	1492	1	PTBP1	19	808741	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	186980	808741	58320242	4309	102166											
MED16	10025	broad.mit.edu	37	chr19	881601	881601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgctggccaccttgaggtCggtgttggtgagcgagatgg	18	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:881601C>T	uc002lqd.1	-	7	1250	c.1099G>A	c.(1099-1101)GAC>AAC	p.D367N	MED16_uc010drw.1_Missense_Mutation_p.D192N|MED16_uc002lqe.2_Missense_Mutation_p.D356N|MED16_uc002lqf.2_Missense_Mutation_p.D356N|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.D356N|MED16_uc010xfx.1_Missense_Mutation_p.D212N|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	367					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				0		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)		ACCTTGAGGTCGGTGTTGGTG	0.647													T	881601	C	T	881601	3	4	189	1	0	0	0	0	1	0	0	0	9434	884	31	1	1574	1	MED16	19	881601	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	72860	881601	58247382	4310	102167											
MED16	10025	broad.mit.edu	37	chr19	881679	881679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgttggtggccgataggaTccgccatttgagaattgtgg	14	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:881679T>G	uc002lqd.1	-	7	1172	c.1021A>C	c.(1021-1023)ATC>CTC	p.I341L	MED16_uc010drw.1_Missense_Mutation_p.I166L|MED16_uc002lqe.2_Missense_Mutation_p.I330L|MED16_uc002lqf.2_Missense_Mutation_p.I330L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.I330L|MED16_uc010xfx.1_Missense_Mutation_p.I186L|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	341					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				0		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)		GCCGATAGGATCCGCCATTTG	0.582													G	881679	T	G	881679	3	3	189	1	0	0	0	0	1	0	0	0	9434	1435	50	5	1652	5	MED16	19	881679	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	78	881679	58247304	4311	102168											
ARID3A	1820	broad.mit.edu	37	chr19	965041	965042	+	Frame_Shift_Ins	INS	-	-	A													gggcctggccgcaagcaccaINSatggcagctccatcaccccc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:965040_965041C>CA	uc002lql.3	+	5	1448_1449	c.1158_1159C>CA	c.(1156-1161)accaatfs	p.T386fs		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	386						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CCGCAAGCACCAATGGCAGCTC	0.634													A	965042	-	A	965041	7	5	189	1	0	1	1	0	0	0	0	0	916	130	5	0	1177	0	ARID3A	19	965041	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	83362	965041	58163942	4312	102169											
ABCA7	10347	broad.mit.edu	37	chr19	1043448	1043448	+	Frame_Shift_Del	DEL	T	T	-													ctctttgcaccagatacaccTtttacccggaagctcatggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:1043447_1043447CT>C	uc002lqw.4	+	8	1136	c.905_905CT>C	c.(904-906)cctfs	p.P302fs	ABCA7_uc010dsb.1_Frame_Shift_Del_p.P164fs	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	302					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome 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)		CCAGATACACCTTTTACCCGG	0.637													-	1043448	T	-	1043448	7	5	189	1	0	1	0	1	0	0	0	0	37	1596	56	0	936	0	ABCA7	19	1043448	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	78407	1043448	58085535	4313	102170											
HMHA1	23526	broad.mit.edu	37	chr19	1074149	1074149	+	Frame_Shift_Del	DEL	G	G	-													gtgctgctacagcgctgtgaGgggggcgtggatgccgcact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:1074148_1074148AG>A	uc002lqz.1	+	6	1067	c.836_836AG>A	c.(835-837)gagfs	p.E279fs	HMHA1_uc010xgd.1_Frame_Shift_Del_p.E295fs|HMHA1_uc010xge.1_Frame_Shift_Del_p.E119fs|HMHA1_uc002lra.1_Frame_Shift_Del_p.E119fs|HMHA1_uc002lrb.1_Frame_Shift_Del_p.E162fs	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	279					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)		CAGCGCTGTGAGGGGGGCGTG	0.667													-	1074149	G	-	1074149	7	5	189	1	0	1	0	1	0	0	0	0	7240	991	35	0	863	0	HMHA1	19	1074149	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	30701	1074149	58054834	4314	102171											
C19orf26	255057	broad.mit.edu	37	chr19	1234739	1234739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccccctccgtcagtgtgTacctgcgacagcatctggcc	10	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:1234739T>C	uc002lrm.2	-	6	715	c.440A>G	c.(439-441)TAC>TGC	p.Y147C		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	173						integral to membrane					0		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)		CGTCAGTGTGTACCTGCGACA	0.657										HNSCC(14;0.022)			C	1234739	T	C	1234739	3	2	189	1	0	0	0	0	1	0	0	0	1916	1638	57	3	919	3	C19orf26	19	1234739	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	160590	1234739	57894244	4315	102172											
DAZAP1	26528	broad.mit.edu	37	chr19	1434758	1434758	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttacgggcaggacttgagTggcttcggacagggcttctc	16	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:1434758T>C	uc002lsn.2	+	12	1260	c.1071T>C	c.(1069-1071)AGT>AGC	p.S357S	DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Silent_p.S356S|DAZAP1_uc002lsl.1_Silent_p.S356S	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	357	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		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)		AGGACTTGAGTGGCTTCGGAC	0.597													C	1434758	T	C	1434758	2	2	189	1	0	0	0	0	0	0	0	1	4244	1693	59	3		3	DAZAP1	19	1434758	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	200019	1434758	57694225	4316	102173											
MBD3	53615	broad.mit.edu	37	chr19	1584655	1584655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctggcgcacgggcagcgCcgtgttcaggtcgggcttgc	17	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:1584655C>T	uc002ltl.1	-	3	314	c.292G>A	c.(292-294)GCG>ACG	p.A98T	MBD3_uc002ltj.2_Missense_Mutation_p.A98T|MBD3_uc002ltk.2_Missense_Mutation_p.A66T	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	98					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)		ACGGGCAGCGCCGTGTTCAGG	0.592													T	1584655	C	T	1584655	3	4	189	1	0	0	0	0	1	0	0	0	9344	739	26	2	599	2	MBD3	19	1584655	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	149897	1584655	57544328	4317	102174											
ATP8B3	148229	broad.mit.edu	37	chr19	1802528	1802528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtctgtgttgcgaaTcctgcagcctcggaggagga	16	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:1802528T>C	uc002ltw.2	-	11	1255	c.1021A>G	c.(1021-1023)ATT>GTT	p.I341V	ATP8B3_uc002ltv.2_Missense_Mutation_p.I288V|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.I89V|ATP8B3_uc002ltz.1_Missense_Mutation_p.I288V	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	341	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		GTGTTGCGAATCCTGCAGCCT	0.567													C	1802528	T	C	1802528	3	2	189	1	0	0	0	0	1	0	0	0	1196	1435	50	3	3005	3	ATP8B3	19	1802528	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	217873	1802528	57326455	4318	102175											
AP3D1	8943	broad.mit.edu	37	chr19	2109159	2109159	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatgccatcgactttgattGagctcatgctcaagtcccca	8	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:2109159G>A	uc002luz.2	-	28	3435	c.3212C>T	c.(3211-3213)TCA>TTA	p.S1071L	AP3D1_uc010dsv.2_Missense_Mutation_p.S161L|AP3D1_uc002luy.2_Missense_Mutation_p.S1030L|AP3D1_uc002lva.2_Missense_Mutation_p.S1133L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	1071					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				0		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)		GACTTTGATTGAGCTCATGCT	0.552													A	2109159	G	A	2109159	3	1	189	1	0	0	0	0	1	0	0	0	746	1294	45	4	261	4	AP3D1	19	2109159	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	306631	2109159	57019824	4319	102176											
AP3D1	8943	broad.mit.edu	37	chr19	2132554	2132554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtgcaacacctgtgtcGtactggctggggctgctcaa	13	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:2132554G>A	uc002luz.2	-	5	601	c.378C>T	c.(376-378)TAC>TAT	p.Y126Y	AP3D1_uc002luy.2_Silent_p.Y126Y|AP3D1_uc002lva.2_Silent_p.Y126Y	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	126					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				0		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)		CACCTGTGTCGTACTGGCTGG	0.592													A	2132554	G	A	2132554	2	1	189	1	0	0	0	0	0	0	0	1	746	1140	40	1		1	AP3D1	19	2132554	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	23395	2132554	56996429	4320	102177											
TMPRSS9	360200	broad.mit.edu	37	chr19	2416625	2416625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcgggctgcggcgggTagtgctgcaccccctctaca	14	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:2416625T>C	uc010xgx.1	+	11	1733	c.1733T>C	c.(1732-1734)GTA>GCA	p.V578A		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	578	Extracellular (Potential).|Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		CTGCGGCGGGTAGTGCTGCAC	0.657													C	2416625	T	C	2416625	3	2	189	1	0	0	0	0	1	0	0	0	16250	1638	57	3	1775	3	TMPRSS9	19	2416625	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	284071	2416625	56712358	4321	102178											
ZNF554	115196	broad.mit.edu	37	chr19	2834447	2834447	+	Frame_Shift_Del	DEL	A	A	-													tcagaggattcacaccggggAaaagccctataaatgtgaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:2834446_2834446GA>G	uc002lwm.2	+	4	1411	c.1213_1213GA>G	c.(1213-1215)gaafs	p.E405fs	ZNF554_uc002lwl.2_Frame_Shift_Del_p.E354fs	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	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)		TCACACCGGGGAAAAGCCCTA	0.522													-	2834447	A	-	2834447	7	5	189	1	0	1	0	1	0	0	0	0	17982	246	9	0	1232	0	ZNF554	19	2834447	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	417822	2834447	56294536	4322	102179											
ZNF57	126295	broad.mit.edu	37	chr19	2917638	2917638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactctataaatgtgaacActgtgggaaggcttttacct	8	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:2917638A>G	uc002lwr.2	+	4	1167	c.1019A>G	c.(1018-1020)CAC>CGC	p.H340R	ZNF57_uc010xha.1_Missense_Mutation_p.H308R	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	340	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)		AAATGTGAACACTGTGGGAAG	0.458													G	2917638	A	G	2917638	3	3	189	1	0	0	0	0	1	0	0	0	17998	159	6	3	1033	3	ZNF57	19	2917638	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	83191	2917638	56211345	4323	102180											
ZNF57	126295	broad.mit.edu	37	chr19	2917975	2917975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccataaatgtgaacaCtgtgggaaggcctttacctc	9	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:2917975C>T	uc002lwr.2	+	4	1504	c.1356C>T	c.(1354-1356)CAC>CAT	p.H452H	ZNF57_uc010xha.1_Silent_p.H420H	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	452	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)		AATGTGAACACTGTGGGAAGG	0.428													T	2917975	C	T	2917975	2	4	189	1	0	0	0	0	0	0	0	1	17998	564	20	4		4	ZNF57	19	2917975	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	337	2917975	56211008	4324	102181											
NFIC	4782	broad.mit.edu	37	chr19	3452546	3452546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtccatcctaccccagaCggcctccacctacttccccc	5	22	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:3452546C>T	uc010xhi.1	+	8	1213	c.1151C>T	c.(1150-1152)ACG>ATG	p.T384M	NFIC_uc002lxo.2_Missense_Mutation_p.T375M|NFIC_uc010xhh.1_Missense_Mutation_p.T375M|NFIC_uc002lxp.2_Missense_Mutation_p.T384M|NFIC_uc010xhj.1_Missense_Mutation_p.T384M	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	384					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				0		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)		CTACCCCAGACGGCCTCCACC	0.652													T	3452546	C	T	3452546	3	4	189	1	0	0	0	0	1	0	0	0	10372	536	19	1	1188	1	NFIC	19	3452546	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	534571	3452546	55676437	4325	102182											
C19orf29	58509	broad.mit.edu	37	chr19	3623876	3623876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagctcctcctgctgcTtccgctcctcccgcagccgc	7	21	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:3623876T>C	uc002lyh.2	-	2	505	c.452A>G	c.(451-453)AAG>AGG	p.K151R	C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Missense_Mutation_p.K151R|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	151	Potential.					catalytic step 2 spliceosome	protein binding				0		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)		CTCCTGCTGCTTCCGCTCCTC	0.711													C	3623876	T	C	3623876	3	2	189	1	0	0	0	0	1	0	0	0	1918	1609	56	3	1860	3	C19orf29	19	3623876	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	171330	3623876	55505107	4326	102183											
MATK	4145	broad.mit.edu	37	chr19	3779034	3779034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccacttgacgggcagccGgcttgagtctagccccttcc	11	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:3779034G>A	uc002lyt.2	-	12	1553	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	MATK_uc002lyv.2_Missense_Mutation_p.R386W|MATK_uc002lyu.2_Missense_Mutation_p.R344W|MATK_uc010dtq.2_Missense_Mutation_p.R385W	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	385	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		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)		ACGGGCAGCCGGCTTGAGTCT	0.607													A	3779034	G	A	3779034	3	1	189	1	0	0	0	0	1	0	0	0	9332	1115	39	1	382	1	MATK	19	3779034	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	155158	3779034	55349949	4327	102184											
EBI3	10148	broad.mit.edu	37	chr19	4231313	4231313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccgtgtccttcattgccAcgtacaggtcggagagcctg	12	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:4231313A>G	uc002lzu.2	+	2	201	c.193A>G	c.(193-195)ACG>GCG	p.T65A		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	65	Fibronectin type-III 1.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCATTGCCACGTACAGGTC	0.642													G	4231313	A	G	4231313	3	3	189	1	0	0	0	0	1	0	0	0	4883	159	6	3	199	3	EBI3	19	4231313	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	452279	4231313	54897670	4328	102185											
CHAF1A	10036	broad.mit.edu	37	chr19	4409350	4409350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccttgcaaaacagaggAggagggtgttggctgtggag	16	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:4409350A>C	uc002mal.2	+	3	654	c.554A>C	c.(553-555)GAG>GCG	p.E185A		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	185	Binds to CBX1 chromo shadow domain.				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			ovary(1)|skin(1)	2		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)		AAAACAGAGGAGGAGGGTGTT	0.582								Chromatin_Structure					C	4409350	A	C	4409350	3	2	189	1	0	0	0	0	1	0	0	0	3311	304	11	5	564	5	CHAF1A	19	4409350	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	178037	4409350	54719633	4329	102186											
PLIN4	729359	broad.mit.edu	37	chr19	4511061	4511061	+	Frame_Shift_Del	DEL	C	C	-													tcctttggccacattcactgCccccgtgactccagtagtca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:4511060_4511060GC>G	uc002mar.1	-	2	2870	c.2870_2870GC>C	c.(2869-2871)gcafs	p.A957fs	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	957	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						CACATTCACTGCCCCCGTGAC	0.597													-	4511061	C	-	4511061	7	5	189	1	0	1	0	1	0	0	0	0	12092	739	26	0	1220	0	PLIN4	19	4511061	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	101711	4511061	54617922	4330	102187											
FEM1A	55527	broad.mit.edu	37	chr19	4792619	4792619	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggggagaggctcagccTgggctgccccaagaagaccc	16	13	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:4792619T>G	uc002mbf.2	+	1	892	c.753T>G	c.(751-753)CCT>CCG	p.P251P	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	251					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCTCAGCCTGGGCTGCCCC	0.687													G	4792619	T	G	4792619	2	3	189	1	0	0	0	0	0	0	0	1	5809	1567	55	5		5	FEM1A	19	4792619	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	281558	4792619	54336364	4331	102188											
PLIN3	10226	broad.mit.edu	37	chr19	4852237	4852237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacaattgggtggccaccGtgtccttggcgctagacacc	12	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:4852237G>A	uc002mbj.2	-	5	602	c.425C>T	c.(424-426)ACG>ATG	p.T142M	PLIN3_uc002mbk.2_Missense_Mutation_p.T130M|PLIN3_uc002mbl.3_Missense_Mutation_p.T142M	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	142					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTGGCCACCGTGTCCTTGGC	0.627											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4852237	G	A	4852237	3	1	189	1	0	0	0	0	1	0	0	0	12091	1145	40	1	895	1	PLIN3	19	4852237	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	59618	4852237	54276746	4332	102189											
UHRF1	29128	broad.mit.edu	37	chr19	4930731	4930731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctcattcctcacaggtcAatgagtacgtcgatgctcgg	9	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:4930731A>G	uc002mbo.2	+	4	580	c.412A>G	c.(412-414)AAT>GAT	p.N138D	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.N151D	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	138					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			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CTCACAGGTCAATGAGTACGT	0.607													G	4930731	A	G	4930731	3	3	189	1	0	0	0	0	1	0	0	0	16964	130	5	3	461	3	UHRF1	19	4930731	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	78494	4930731	54198252	4333	102190											
KDM4B	23030	broad.mit.edu	37	chr19	5110675	5110675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatctccatggacgtgTtcgtgcgcatcctgcagccc	10	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:5110675T>C	uc002mbq.3	+	10	1187	c.961T>C	c.(961-963)TTC>CTC	p.F321L	KDM4B_uc010xil.1_Missense_Mutation_p.F321L|KDM4B_uc010xim.1_Missense_Mutation_p.F321L|KDM4B_uc002mbr.3_Missense_Mutation_p.F79L	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	321					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			lung(1)	1						CATGGACGTGTTCGTGCGCAT	0.677													C	5110675	T	C	5110675	3	2	189	1	0	0	0	0	1	0	0	0	8129	1725	60	3	991	3	KDM4B	19	5110675	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	179944	5110675	54018308	4334	102191											
KDM4B	23030	broad.mit.edu	37	chr19	5110733	5110733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagggcaaggacctcaCggtgctggaccacacgcggc	15	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:5110733C>T	uc002mbq.3	+	10	1245	c.1019C>T	c.(1018-1020)ACG>ATG	p.T340M	KDM4B_uc010xil.1_Missense_Mutation_p.T340M|KDM4B_uc010xim.1_Missense_Mutation_p.T340M|KDM4B_uc002mbr.3_Missense_Mutation_p.T98M	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	340					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			lung(1)	1						AAGGACCTCACGGTGCTGGAC	0.662													T	5110733	C	T	5110733	3	4	189	1	0	0	0	0	1	0	0	0	8129	536	19	1	1049	1	KDM4B	19	5110733	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	58	5110733	54018250	4335	102192											
PTPRS	5802	broad.mit.edu	37	chr19	5208286	5208286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgtcctggccaaactgCtccttagtcttatgcacttg	10	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:5208286C>T	uc002mbv.2	-	36	5838	c.5604G>A	c.(5602-5604)GAG>GAA	p.E1868E	PTPRS_uc002mbu.1_Silent_p.E1437E|PTPRS_uc010xin.1_Silent_p.E1410E|PTPRS_uc002mbw.2_Silent_p.E1830E|PTPRS_uc002mbx.2_Silent_p.E1425E|PTPRS_uc002mby.2_Silent_p.E1421E	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1868	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCCAAACTGCTCCTTAGTCT	0.602													T	5208286	C	T	5208286	2	4	189	1	0	0	0	0	0	0	0	1	12811	796	28	2		2	PTPRS	19	5208286	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	97553	5208286	53920697	4336	102193											
ACSBG2	81616	broad.mit.edu	37	chr19	6187367	6187367	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggttaagaagaagatcccCatcatcagtaacgccatgtt	8	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:6187367C>A	uc002mef.1	+	12	1841	c.1614C>A	c.(1612-1614)CCC>CCA	p.P538P	ACSBG2_uc002mee.1_Silent_p.P351P|ACSBG2_uc002meg.1_Silent_p.P538P|ACSBG2_uc002meh.1_Silent_p.P538P|ACSBG2_uc002mei.1_Silent_p.P488P|ACSBG2_uc010xiz.1_Silent_p.P538P	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	538					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			ovary(1)	1						AGAAGATCCCCATCATCAGTA	0.468													A	6187367	C	A	6187367	2	1	189	1	0	0	0	0	0	0	0	1	174	581	21	5		5	ACSBG2	19	6187367	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	979081	6187367	52941616	4337	102194											
MLLT1	4298	broad.mit.edu	37	chr19	6230666	6230666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaggtggttcacgggcGggttgccttccaggttcagg	17	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:6230666G>A	uc002mek.2	-	4	499	c.335C>T	c.(334-336)CCG>CTG	p.P112L		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	112	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GTTCACGGGCGGGTTGCCTTC	0.612			T	MLL	AL								A	6230666	G	A	6230666	3	1	189	1	0	0	0	0	1	0	0	0	9625	1116	39	1	1380	1	MLLT1	19	6230666	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	43299	6230666	52898317	4338	102195											
MLLT1	4298	broad.mit.edu	37	chr19	6230719	6230719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagcagaccttcctcggCtcctcctgaaacagagaaaa	9	12	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:6230719C>T	uc002mek.2	-	4	446	c.282G>A	c.(280-282)GAG>GAA	p.E94E		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	94	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						CCTTCCTCGGCTCCTCCTGAA	0.592			T	MLL	AL								T	6230719	C	T	6230719	2	4	189	1	0	0	0	0	0	0	0	1	9625	796	28	2		2	MLLT1	19	6230719	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	53	6230719	52898264	4339	102196											
ACER1	125981	broad.mit.edu	37	chr19	6309743	6309743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgatgtagagaatgtgCagggcaatgctgttgagggc	15	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:6309743C>T	uc002mel.2	-	4	531	c.453G>A	c.(451-453)CTG>CTA	p.L151L		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	151	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0						AGAGAATGTGCAGGGCAATGC	0.607													T	6309743	C	T	6309743	2	4	189	1	0	0	0	0	0	0	0	1	138	697	25	2		2	ACER1	19	6309743	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	79024	6309743	52819240	4340	102197											
SLC25A23	79085	broad.mit.edu	37	chr19	6456459	6456459	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagaaatacagcacgTcctccacattttccagcgaa	6	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:6456459T>A	uc002mex.1	-	4	597	c.455A>T	c.(454-456)GAC>GTC	p.D152V	SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_5'Flank	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	152	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						ATACAGCACGTCCTCCACATT	0.592													A	6456459	T	A	6456459	3	1	189	1	0	0	0	0	1	0	0	0	14486	1667	58	5	979	5	SLC25A23	19	6456459	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	146716	6456459	52672524	4341	102198											
C3	718	broad.mit.edu	37	chr19	6710732	6710732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcaccgatcagcgtgTagtacgccaccaggcggaag	14	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:6710732T>C	uc002mfm.2	-	13	1666	c.1604A>G	c.(1603-1605)TAC>TGC	p.Y535C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	535					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GATCAGCGTGTAGTACGCCAC	0.672													C	6710732	T	C	6710732	3	2	189	1	0	0	0	0	1	0	0	0	2204	1638	57	3	3503	3	C3	19	6710732	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	254273	6710732	52418251	4342	102199											
TRIP10	9322	broad.mit.edu	37	chr19	6743530	6743530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtaaatttgagcgggactGccgggaggcagagaaggcag	18	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:6743530G>A	uc002mfs.2	+	6	500	c.434G>A	c.(433-435)TGC>TAC	p.C145Y	TRIP10_uc010dux.1_Missense_Mutation_p.C145Y|TRIP10_uc002mfr.2_Missense_Mutation_p.C145Y|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	145	Potential.|Induction of membrane tubulation.				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			ovary(1)	1						GAGCGGGACTGCCGGGAGGCA	0.597													A	6743530	G	A	6743530	3	1	189	1	0	0	0	0	1	0	0	0	16551	1319	46	2	456	2	TRIP10	19	6743530	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	32798	6743530	52385453	4343	102200											
ZNF557	79230	broad.mit.edu	37	chr19	7083669	7083669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactcacactggaaaaaaaCcctatgaatgtaattattgc	6	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:7083669C>A	uc002mgb.2	+	8	1671	c.1186C>A	c.(1186-1188)CCC>ACC	p.P396T	ZNF557_uc002mga.2_Missense_Mutation_p.P403T|ZNF557_uc002mgc.2_Missense_Mutation_p.P403T	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		TGGAAAAAAACCCTATGAATG	0.368													A	7083669	C	A	7083669	3	1	189	1	0	0	0	0	1	0	0	0	17985	507	18	5	1229	5	ZNF557	19	7083669	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	340139	7083669	52045314	4344	102201											
INSR	3643	broad.mit.edu	37	chr19	7150506	7150506	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgcacaggtgagtcatAcctagggtcctcggcaccag	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:7150506A>G	uc002mgd.1	-	11	2376	c.2267_splice	c.e11+1	p.R756_splice	INSR_uc002mge.1_Intron	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor						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			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGAGTCATACCTAGGGTCC	0.587													G	7150506	A	G	7150506	5	3	189	1	0	0	0	0	0	0	1	0	7773	405	14	3	1927	3	INSR	19	7150506	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	66837	7150506	51978477	4345	102202											
ZNF358	140467	broad.mit.edu	37	chr19	7585023	7585023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtccgcagtgcggcaagGccttcgggcagagctcggcg	17	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:7585023G>A	uc002mgn.2	+	2	1065	c.895G>A	c.(895-897)GCC>ACC	p.A299T	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	299	C2H2-type 6.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						GTGCGGCAAGGCCTTCGGGCA	0.721													A	7585023	G	A	7585023	3	1	189	1	0	0	0	0	1	0	0	0	17864	1203	42	2	897	2	ZNF358	19	7585023	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	434517	7585023	51543960	4346	102203											
PNPLA6	10908	broad.mit.edu	37	chr19	7615447	7615447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacatcgtgctcaatgggcGgctgcgtagcgtgatccagc	13	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:7615447G>A	uc010xjq.1	+	18	2213	c.2018G>A	c.(2017-2019)CGG>CAG	p.R673Q	PNPLA6_uc002mgq.1_Missense_Mutation_p.R625Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.R599Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.R625Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.R664Q	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	664	Cytoplasmic (Potential).|cNMP 3.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CTCAATGGGCGGCTGCGTAGC	0.682													A	7615447	G	A	7615447	3	1	189	1	0	0	0	0	1	0	0	0	12169	1116	39	1	2084	1	PNPLA6	19	7615447	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	30424	7615447	51513536	4347	102204											
CLEC4G	339390	broad.mit.edu	37	chr19	7794978	7794978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgcgccgccgcccacGtcgtctttggcacagagaaa	11	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:7794978G>A	uc002mhp.3	-	7	623	c.554C>T	c.(553-555)ACG>ATG	p.T185M		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	185	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0						CGCCGCCCACGTCGTCTTTGG	0.677													A	7794978	G	A	7794978	3	1	189	1	0	0	0	0	1	0	0	0	3517	1145	40	1	339	1	CLEC4G	19	7794978	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	179531	7794978	51334005	4348	102205											
CLEC4M	10332	broad.mit.edu	37	chr19	7831545	7831545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctcccccaacagaacGcctgtgccgccactgtccca	7	21	0	1	rs140767813		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:7831545G>A	uc002mih.2	+	6	837	c.719G>A	c.(718-720)CGC>CAC	p.R240H	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.R196H|CLEC4M_uc010dvt.2_Missense_Mutation_p.R217H|CLEC4M_uc010dvs.2_Missense_Mutation_p.R239H|CLEC4M_uc010xjx.1_Missense_Mutation_p.R212H|CLEC4M_uc002mhz.2_Missense_Mutation_p.R171H|CLEC4M_uc002mic.2_Missense_Mutation_p.R235H|CLEC4M_uc002mia.2_Missense_Mutation_p.R127H	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	263	Extracellular (Probable).|7.|7 X approximate tandem repeats.				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			pancreas(1)	1						CCAACAGAACGCCTGTGCCGC	0.562													A	7831545	G	A	7831545	3	1	189	1	0	0	0	0	1	0	0	0	3518	1087	38	1	827	1	CLEC4M	19	7831545	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	36567	7831545	51297438	4349	102206											
SNAPC2	6618	broad.mit.edu	37	chr19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-													ctccaaggcaccagaggagaCccccccagccaccgagaagg					rs143745112	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					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						ACCAGAGGAGACCCCCCCAGC	0.667													-	7987519	C	-	7987519	7	5	189	1	0	1	0	1	0	0	0	0	14835	507	18	0	893	0	SNAPC2	19	7987519	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	155974	7987519	51141464	4350	102207											
ELAVL1	1994	broad.mit.edu	37	chr19	8056606	8056606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgtaactcatcctgggTcatgttctgagggaggtagt	13	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:8056606T>C	uc002mjb.2	-	2	261	c.94A>G	c.(94-96)ACC>GCC	p.T32A		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	32	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TCATCCTGGGTCATGTTCTGA	0.443													C	8056606	T	C	8056606	3	2	189	1	0	0	0	0	1	0	0	0	5049	1667	58	3	906	3	ELAVL1	19	8056606	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	69087	8056606	51072377	4351	102208											
FBN3	84467	broad.mit.edu	37	chr19	8138042	8138042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggccacgccgtccggcGcactcatccacctcctggca	11	19	1	0	rs116210236	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:8138042G>A	uc002mjf.2	-	61	7863	c.7842C>T	c.(7840-7842)TGC>TGT	p.C2614C	FBN3_uc002mje.2_Silent_p.C410C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2614	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCCGTCCGGCGCACTCATCCA	0.657													A	8138042	G	A	8138042	2	1	189	1	0	0	0	0	0	0	0	1	5704	1079	38	1		1	FBN3	19	8138042	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	81436	8138042	50990941	4352	102209											
FBN3	84467	broad.mit.edu	37	chr19	8175743	8175743	+	Frame_Shift_Del	DEL	C	C	-													tcacacctgtgcagttgccaCcccctcggtccagttcgtag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:8175742_8175742AC>A	uc002mjf.3	-	32	4337	c.4320_4320GT>T	c.(4318-4320)ggtfs	p.G1440fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1440	EGF-like 22; 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						TGCAGTTGCCACCCCCTCGGT	0.597													-	8175743	C	-	8175743	7	5	189	1	0	1	0	1	0	0	0	0	5704	507	18	0	4234	0	FBN3	19	8175743	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	37701	8175743	50953240	4353	102210											
HNRNPM	4670	broad.mit.edu	37	chr19	8550915	8550915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggagcgcatggtgcccGcaggtatgggagctggcctg	18	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:8550915G>A	uc010dwe.2	+	14	1683	c.1603G>A	c.(1603-1605)GCA>ACA	p.A535T	HNRNPM_uc010xke.1_Missense_Mutation_p.A481T|HNRNPM_uc010dwd.2_Missense_Mutation_p.A496T|HNRNPM_uc002mka.2_Missense_Mutation_p.A400T|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	535	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				0						CATGGTGCCCGCAGGTATGGG	0.687													A	8550915	G	A	8550915	3	1	189	1	0	0	0	0	1	0	0	0	7271	1087	38	1	1657	1	HNRNPM	19	8550915	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	375172	8550915	50578068	4354	102211											
PRAM1	84106	broad.mit.edu	37	chr19	8563898	8563898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggaaaggcgctggagTcgcgcttcggctcgctggac	16	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:8563898T>C	uc002mkd.2	-	2	814	c.794A>G	c.(793-795)GAC>GGC	p.D265G	PRAM1_uc002mkc.2_Missense_Mutation_p.D265G	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	313	Pro-rich.						lipid binding|protein binding				0						GGCGCTGGAGTCGCGCTTCGG	0.642													C	8563898	T	C	8563898	3	2	189	1	0	0	0	0	1	0	0	0	12423	1667	58	3	1251	3	PRAM1	19	8563898	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	12983	8563898	50565085	4355	102212											
MUC16	94025	broad.mit.edu	37	chr19	9049048	9049048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttggaacagctgaactGgattctgccccatgactggt	13	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:9049048G>A	uc002mkp.2	-	5	32787	c.32583C>T	c.(32581-32583)TCC>TCT	p.S10861S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10863	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGCTGAACTGGATTCTGCCC	0.478													A	9049048	G	A	9049048	2	1	189	1	0	0	0	0	0	0	0	1	9973	1335	47	4		4	MUC16	19	9049048	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	485150	9049048	50079935	4356	102213											
MUC16	94025	broad.mit.edu	37	chr19	9069916	9069916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtggagagcctggtgaTggtttctgtggagatgtagg	17	3	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:9069916T>C	uc002mkp.2	-	3	17734	c.17530A>G	c.(17530-17532)ATC>GTC	p.I5844V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5846	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGCCTGGTGATGGTTTCTGTG	0.473													C	9069916	T	C	9069916	3	2	189	1	0	0	0	0	1	0	0	0	9973	1464	51	3	26321	3	MUC16	19	9069916	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	20868	9069916	50059067	4357	102214											
MUC16	94025	broad.mit.edu	37	chr19	9074359	9074359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatctgtaaatgtgttggTagaagttataaactgatgag	10	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:9074359T>C	uc002mkp.2	-	3	13291	c.13087A>G	c.(13087-13089)ACC>GCC	p.T4363A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4365	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AATGTGTTGGTAGAAGTTATA	0.473													C	9074359	T	C	9074359	3	2	189	1	0	0	0	0	1	0	0	0	9973	1638	57	3	30764	3	MUC16	19	9074359	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4443	9074359	50054624	4358	102215											
MUC16	94025	broad.mit.edu	37	chr19	9074482	9074482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgacagtgcttgtctctgTagcagagctggccacctggg	13	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:9074482T>C	uc002mkp.2	-	3	13168	c.12964A>G	c.(12964-12966)ACA>GCA	p.T4322A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4324	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTTGTCTCTGTAGCAGAGCTG	0.502													C	9074482	T	C	9074482	3	2	189	1	0	0	0	0	1	0	0	0	9973	1638	57	3	30887	3	MUC16	19	9074482	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	123	9074482	50054501	4359	102216											
MUC16	94025	broad.mit.edu	37	chr19	9091107	9091107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtgataggtcaaggaaGgaagaataaagtgtcccaaa	12	4	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:9091107G>A	uc002mkp.2	-	1	912	c.708C>T	c.(706-708)TCC>TCT	p.S236S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	236	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTCAAGGAAGGAAGAATAAA	0.468													A	9091107	G	A	9091107	2	1	189	1	0	0	0	0	0	0	0	1	9973	987	35	4		4	MUC16	19	9091107	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	16625	9091107	50037876	4360	102217											
ZNF266	10781	broad.mit.edu	37	chr19	9524215	9524215	+	Frame_Shift_Del	DEL	T	T	-													cattccatacacgtgaatggTtttttggcgctgtgggtccg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:9524214_9524214GT>G	uc010dwq.3	-	8	2595	c.1387_1387AC>C	c.(1387-1389)ccafs	p.P463fs	ZNF266_uc002mll.3_Frame_Shift_Del_p.P463fs|ZNF266_uc002mlm.3_Frame_Shift_Del_p.P463fs|ZNF266_uc002mln.3_Frame_Shift_Del_p.P463fs|ZNF266_uc002mlo.3_Frame_Shift_Del_p.P463fs	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CACGTGAATGGTTTTTTGGCG	0.448													-	9524215	T	-	9524215	7	5	189	1	0	1	0	1	0	0	0	0	17802	1722	60	0	267	0	ZNF266	19	9524215	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	433108	9524215	49604768	4361	102218											
RDH8	50700	broad.mit.edu	37	chr19	10132286	10132286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctactcgccgctgaccaCgctcaaaaccgtggattcct	8	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10132286C>T	uc002mmr.2	+	6	1046	c.797C>T	c.(796-798)ACG>ATG	p.T266M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	266					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			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCGCTGACCACGCTCAAAACC	0.612													T	10132286	C	T	10132286	3	4	189	1	0	0	0	0	1	0	0	0	13196	536	19	1	819	1	RDH8	19	10132286	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	608071	10132286	48996697	4362	102219											
DNMT1	1786	broad.mit.edu	37	chr19	10252877	10252877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagctcgctggagtggActtgtgggtgttctcaggcc	17	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10252877A>G	uc002mng.2	-	29	3268	c.3088T>C	c.(3088-3090)TCC>CCC	p.S1030P	DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_5'UTR|DNMT1_uc010xlc.1_Missense_Mutation_p.S1046P|DNMT1_uc002mnh.2_Missense_Mutation_p.S925P|DNMT1_uc010xld.1_Missense_Mutation_p.S1030P	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1030	BAH 2.				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			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			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)	GCTGGAGTGGACTTGTGGGTG	0.587													G	10252877	A	G	10252877	3	3	189	1	0	0	0	0	1	0	0	0	4675	275	10	3	1810	3	DNMT1	19	10252877	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	120591	10252877	48876106	4363	102220											
DNMT1	1786	broad.mit.edu	37	chr19	10284549	10284549	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagtaactattcttaccgTtctctggatgtaactctacg	6	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10284549T>C	uc002mng.2	-	7	813	c.633A>G	c.(631-633)GAA>GAG	p.E211E	DNMT1_uc010xlc.1_Silent_p.E227E|DNMT1_uc002mnh.2_Silent_p.E106E|DNMT1_uc010xld.1_Silent_p.E211E	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	211	Interaction with DNMT3B.|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			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			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)	ATTCTTACCGTTCTCTGGATG	0.328													C	10284549	T	C	10284549	2	2	189	1	0	0	0	0	0	0	0	1	4675	1722	60	3		3	DNMT1	19	10284549	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	31672	10284549	48844434	4364	102221											
ICAM1	3383	broad.mit.edu	37	chr19	10394791	10394791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtggtctgttccctggaCgggctgttcccagtctcgga	13	13	2	0	rs143689328	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10394791C>T	uc002mnq.2	+	4	1039	c.720C>T	c.(718-720)GAC>GAT	p.D240D	ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	240	Ig-like C2-type 3.|Extracellular (Potential).				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GTTCCCTGGACGGGCTGTTCC	0.637													T	10394791	C	T	10394791	2	4	189	1	0	0	0	0	0	0	0	1	7479	535	19	1		1	ICAM1	19	10394791	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	110242	10394791	48734192	4365	102222											
TYK2	7297	broad.mit.edu	37	chr19	10475609	10475609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccggaagtcacagaagTaggcccacagtggctcccgc	12	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10475609T>C	uc002moc.3	-	8	1505	c.1127A>G	c.(1126-1128)TAC>TGC	p.Y376C	TYK2_uc010dxe.2_Missense_Mutation_p.Y191C|TYK2_uc002mod.2_Missense_Mutation_p.Y376C	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	376	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			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTCACAGAAGTAGGCCCACAG	0.632													C	10475609	T	C	10475609	3	2	189	1	0	0	0	0	1	0	0	0	16807	1638	57	3	2508	3	TYK2	19	10475609	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	80818	10475609	48653374	4366	102223											
KEAP1	9817	broad.mit.edu	37	chr19	10599954	10599954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgaaagtccacgtctctGtttccacatcgtagcgctcc	7	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10599954G>A	uc002moq.1	-	5	1778	c.1622C>T	c.(1621-1623)ACA>ATA	p.T541I	KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Missense_Mutation_p.T541I	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	541	Kelch 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCACGTCTCTGTTTCCACATC	0.592													A	10599954	G	A	10599954	3	1	189	1	0	0	0	0	1	0	0	0	8141	1377	48	4	260	4	KEAP1	19	10599954	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	124345	10599954	48529029	4367	102224											
KEAP1	9817	broad.mit.edu	37	chr19	10602716	10602716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcggactgcaggatctcgcActtctgcagctgcatctgca	11	13	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10602716A>G	uc002moq.1	-	3	1018	c.862T>C	c.(862-864)TGC>CGC	p.C288R	KEAP1_uc002mop.1_Missense_Mutation_p.C6R|KEAP1_uc002mor.1_Missense_Mutation_p.C288R	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	288				C->S: Abolishes repression of NFE2L2- dependent gene expression. Slows down degradation of NFE2L2.	regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGGATCTCGCACTTCTGCAGC	0.637													G	10602716	A	G	10602716	3	3	189	1	0	0	0	0	1	0	0	0	8141	159	6	3	1028	3	KEAP1	19	10602716	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2762	10602716	48526267	4368	102225											
KRI1	65095	broad.mit.edu	37	chr19	10670352	10670352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatccttacggcgcacGgaggacgcgatgctgcgtgg	15	13	1	0	rs139920982		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:10670352G>A	uc002moy.1	-	11	987	c.978C>T	c.(976-978)TCC>TCT	p.S326S	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Silent_p.S322S	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	326	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TACGGCGCACGGAGGACGCGA	0.622													A	10670352	G	A	10670352	2	1	189	1	0	0	0	0	0	0	0	1	8444	1103	39	1		1	KRI1	19	10670352	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	67636	10670352	48458631	4369	102226											
SMARCA4	6597	broad.mit.edu	37	chr19	11134301	11134301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcgaggcccagttgccCgaaaaggtgatggagttttg	15	7	0	1	rs149874634	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:11134301C>T	uc002mqf.3	+	20	3251	c.2967C>T	c.(2965-2967)CCC>CCT	p.P989P	SMARCA4_uc010dxp.2_Silent_p.P989P|SMARCA4_uc010dxo.2_Silent_p.P989P|SMARCA4_uc002mqg.1_Silent_p.P989P|SMARCA4_uc010dxq.2_Silent_p.P989P|SMARCA4_uc010dxr.2_Silent_p.P989P|SMARCA4_uc002mqj.3_Silent_p.P989P|SMARCA4_uc010dxs.2_Silent_p.P989P|SMARCA4_uc010dxt.1_Silent_p.P209P|SMARCA4_uc002mqh.3_Silent_p.P112P|SMARCA4_uc002mqi.1_Silent_p.P192P	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	989					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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCAGTTGCCCGAAAAGGTGA	0.597			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11134301	C	T	11134301	2	4	189	1	0	0	0	0	0	0	0	1	14770	639	23	1		1	SMARCA4	19	11134301	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	463949	11134301	47994682	4370	102227											
ZNF823	55552	broad.mit.edu	37	chr19	11832903	11832903	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagaaaggtatttgaaAcaactgaatgctttcccaca	8	7	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:11832903A>G	uc002msm.2	-	4	1572	c.1446T>C	c.(1444-1446)TGT>TGC	p.C482C	ZNF823_uc010xmd.1_Silent_p.C300C|ZNF823_uc010dyi.1_Silent_p.C438C	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	482	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGTATTTGAAACAACTGAATG	0.373										HNSCC(68;0.2)			G	11832903	A	G	11832903	2	3	189	1	0	0	0	0	0	0	0	1	18176	41	2	3		3	ZNF823	19	11832903	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	698602	11832903	47296080	4371	102228											
ZNF20	7568	broad.mit.edu	37	chr19	12243602	12243602	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagtcctttcatgatatcGaatggaactggaacaagtga	11	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:12243602G>A	uc002mtf.1	-	4	1542	c.1399C>T	c.(1399-1401)CGA>TGA	p.R467*	ZNF20_uc002mte.1_Nonsense_Mutation_p.R432*|ZNF20_uc002mtg.1_Nonsense_Mutation_p.R467*	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	467	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCATGATATCGAATGGAACTG	0.403													A	12243602	G	A	12243602	4	1	189	1	0	0	0	0	0	1	0	0	17758	1066	37	1	203	1	ZNF20	19	12243602	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	410699	12243602	46885381	4372	102229											
ZNF799	90576	broad.mit.edu	37	chr19	12501728	12501728	+	Missense_Mutation	SNP	C	C	T													tctctcctgtgtgagtccttCtatgttgagaaaggtattgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:12501728C>T	uc010dyt.2	-	4	1634	c.1484G>A	c.(1483-1485)AGA>AAA	p.R495K	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	495	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GTGAGTCCTTCTATGTTGAGA	0.378													T	12501728	C	T	12501728	3	4	189	1	0	0	0	0	1	0	0	0	18163	913	32	4	451	4	ZNF799	19	12501728	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	258126	12501728	46627255	4373	102230	494	2									
ZNF799	90576	broad.mit.edu	37	chr19	12501734	12501734	+	Missense_Mutation	SNP	T	T	C													ctgtgtgagtccttctatgtTgagaaaggtattggaaacaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:12501734T>C	uc010dyt.2	-	4	1628	c.1478A>G	c.(1477-1479)CAA>CGA	p.Q493R	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	493	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						CCTTCTATGTTGAGAAAGGTA	0.368													C	12501734	T	C	12501734	3	2	189	1	0	0	0	0	1	0	0	0	18163	1812	63	3	457	3	ZNF799	19	12501734	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6	12501734	46627249	4374	102231	494	2									
ZNF799	90576	broad.mit.edu	37	chr19	12502023	12502023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaggctttcccacataTcttgcatttgtgaggtccat	7	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:12502023T>C	uc010dyt.2	-	4	1339	c.1189A>G	c.(1189-1191)ATA>GTA	p.I397V	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	397	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TTCCCACATATCTTGCATTTG	0.418													C	12502023	T	C	12502023	3	2	189	1	0	0	0	0	1	0	0	0	18163	1435	50	3	746	3	ZNF799	19	12502023	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	289	12502023	46626960	4375	102232											
ZNF443	10224	broad.mit.edu	37	chr19	12541723	12541723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacataccttgcatttAtgaggtccatctccagtgtg	7	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:12541723A>G	uc002mtu.2	-	4	1461	c.1263T>C	c.(1261-1263)CAT>CAC	p.H421H		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	421	C2H2-type 11.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CCTTGCATTTATGAGGTCCAT	0.413													G	12541723	A	G	12541723	2	3	189	1	0	0	0	0	0	0	0	1	17913	446	16	3		3	ZNF443	19	12541723	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	39700	12541723	46587260	4376	102233											
MAN2B1	4125	broad.mit.edu	37	chr19	12758258	12758258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaattttgcccttctcaccCtcaagttcaaggtaacgggg	8	12	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:12758258C>A	uc002mub.2	-	22	2895	c.2819G>T	c.(2818-2820)AGG>ATG	p.R940M	MAN2B1_uc010dyv.1_Missense_Mutation_p.R939M	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	940					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CCTTCTCACCCTCAAGTTCAA	0.572													A	12758258	C	A	12758258	3	1	189	1	0	0	0	0	1	0	0	0	9216	695	24	5	228	5	MAN2B1	19	12758258	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	216535	12758258	46370725	4377	102234											
HOOK2	29911	broad.mit.edu	37	chr19	12882282	12882282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcacttaggaaatagtAcctgcgggactgcagagatg	11	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:12882282A>G	uc002muy.2	-	8	700	c.529T>C	c.(529-531)TAC>CAC	p.Y177H	HOOK2_uc002muz.2_Missense_Mutation_p.Y177H	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	177	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			ovary(1)|breast(1)|skin(1)	3						AGGAAATAGTACCTGCGGGAC	0.602													G	12882282	A	G	12882282	3	3	189	1	0	0	0	0	1	0	0	0	7283	391	14	3	1694	3	HOOK2	19	12882282	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	124024	12882282	46246701	4378	102235											
FARSA	2193	broad.mit.edu	37	chr19	13035921	13035921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccctgtgagccgtagccGccctgagagtgggtccgctt	13	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:13035921G>A	uc002mvs.2	-	8	957	c.909C>T	c.(907-909)GGC>GGT	p.G303G	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Silent_p.G272G|FARSA_uc010dyy.1_Silent_p.G224G	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	303					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)	AGCCGTAGCCGCCCTGAGAGT	0.622													A	13035921	G	A	13035921	2	1	189	1	0	0	0	0	0	0	0	1	5679	1074	38	1		1	FARSA	19	13035921	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	153639	13035921	46093062	4379	102236											
RAD23A	5886	broad.mit.edu	37	chr19	13059009	13059009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaagccggccagggtAcctcagcacccccagaggcc	11	17	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:13059009A>G	uc002mvw.1	+	3	362	c.253A>G	c.(253-255)ACC>GCC	p.T85A	RAD23A_uc002mvx.1_Missense_Mutation_p.T85A|RAD23A_uc002mvz.1_Missense_Mutation_p.T85A|RAD23A_uc002mwa.1_Missense_Mutation_p.T85A|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	85					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)	1						CGGCCAGGGTACCTCAGCACC	0.647								NER					G	13059009	A	G	13059009	3	3	189	1	0	0	0	0	1	0	0	0	12982	391	14	3	263	3	RAD23A	19	13059009	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	23088	13059009	46069974	4380	102237											
DAND5	199699	broad.mit.edu	37	chr19	13084403	13084403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtcgacgggtgaagatAtccaccatgctgatcgaggg	13	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:13084403A>G	uc002mwc.1	+	2	568	c.525A>G	c.(523-525)ATA>ATG	p.I175M	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	175	CTCK.					extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GGGTGAAGATATCCACCATGC	0.587													G	13084403	A	G	13084403	3	3	189	1	0	0	0	0	1	0	0	0	4230	439	16	3	531	3	DAND5	19	13084403	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	25394	13084403	46044580	4381	102238											
CACNA1A	773	broad.mit.edu	37	chr19	13323264	13323264	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccggactccatgtgcccgtCttctggaacatctcctgggc	10	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:13323264C>A	uc010dze.2	-	42	6362	c.6126G>T	c.(6124-6126)AAG>AAT	p.K2042N	CACNA1A_uc010xnd.1_Missense_Mutation_p.K747N|CACNA1A_uc002mwx.3_Missense_Mutation_p.K747N|CACNA1A_uc010dzc.2_Missense_Mutation_p.K1567N|CACNA1A_uc002mwy.3_Missense_Mutation_p.K2041N|CACNA1A_uc002mwv.3_Missense_Mutation_p.K558N	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	2042	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGTGCCCGTCTTCTGGAACA	0.642													A	13323264	C	A	13323264	3	1	189	1	0	0	0	0	1	0	0	0	2538	912	32	5	1421	5	CACNA1A	19	13323264	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	238861	13323264	45805719	4382	102239											
MRI1	84245	broad.mit.edu	37	chr19	13879676	13879676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcgtggttgccaacggcGacacagccaacaaggtgggc	14	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:13879676G>A	uc002mxe.2	+	5	829	c.763G>A	c.(763-765)GAC>AAC	p.D255N	MRI1_uc002mxf.2_Missense_Mutation_p.D208N	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	255					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						TGCCAACGGCGACACAGCCAA	0.637													A	13879676	G	A	13879676	3	1	189	1	0	0	0	0	1	0	0	0	9770	1058	37	1	874	1	MRI1	19	13879676	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	556412	13879676	45249307	4383	102240											
C19orf53	28974	broad.mit.edu	37	chr19	13885340	13885340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaaacccgcaaagagtAagacggcagcggcagcctct	11	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:13885340A>G	uc002mxg.2	+	1	84	c.49A>G	c.(49-51)AAG>GAG	p.K17E		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Leydig cell tumor 10 kDa protein	17										ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CGCAAAGAGTAAGACGGCAGC	0.667													G	13885340	A	G	13885340	3	3	189	1	0	0	0	0	1	0	0	0	1935	363	13	3	51	3	C19orf53	19	13885340	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5664	13885340	45243643	4384	102241											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941371	13941371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcctacaagctggcgaCgctggccctggcgcagctca	14	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:13941371C>T	uc002mxh.1	+	13	2666	c.2477C>T	c.(2476-2478)ACG>ATG	p.T826M	ZSWIM4_uc010xng.1_Missense_Mutation_p.T749M	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	826							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AAGCTGGCGACGCTGGCCCTG	0.711													T	13941371	C	T	13941371	3	4	189	1	0	0	0	0	1	0	0	0	18240	536	19	1	2527	1	ZSWIM4	19	13941371	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	56031	13941371	45187612	4385	102242											
CC2D1A	54862	broad.mit.edu	37	chr19	14040219	14040219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcccctgcatagcctcagTgtgctggcgtttgaccaaga	12	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14040219T>C	uc002mxo.2	+	25	2846	c.2547T>C	c.(2545-2547)AGT>AGC	p.S849S	CC2D1A_uc002mxp.2_Silent_p.S848S|CC2D1A_uc010dzh.2_Silent_p.S418S	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	849					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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ATAGCCTCAGTGTGCTGGCGT	0.592													C	14040219	T	C	14040219	2	2	189	1	0	0	0	0	0	0	0	1	2726	1693	59	3		3	CC2D1A	19	14040219	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	98848	14040219	45088764	4386	102243											
IL27RA	9466	broad.mit.edu	37	chr19	14143218	14143218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgccgggccactgcagTgctacggagttggacccttg	15	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14143218T>C	uc002mxx.2	+	2	544	c.121T>C	c.(121-123)TGC>CGC	p.C41R		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	41	Extracellular (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						GCCACTGCAGTGCTACGGAGT	0.627													C	14143218	T	C	14143218	3	2	189	1	0	0	0	0	1	0	0	0	7681	1696	59	3	127	3	IL27RA	19	14143218	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	102999	14143218	44985765	4387	102244											
PRKACA	5566	broad.mit.edu	37	chr19	14218178	14218178	+	Frame_Shift_Del	DEL	T	T	-													acctgagcgggactttcccaTtttttaagaaaatcttcttt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14218177_14218177AT>A	uc002myc.3	-	1	291	c.91_91AT>T	c.(91-93)tggfs	p.W31fs	PRKACA_uc002myb.3_Frame_Shift_Del_p.W23fs|PRKACA_uc010xnm.1_5'UTR|PRKACA_uc002myd.3_5'UTR	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	31					G2/M transition of mitotic cell cycle|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|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	p.W31fs*15(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGACTTTCCCATTTTTTAAGA	0.547													-	14218178	T	-	14218178	7	5	189	1	0	1	0	1	0	0	0	0	12497	1490	52	0	1001	0	PRKACA	19	14218178	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	74960	14218178	44910805	4388	102245											
ASF1B	55723	broad.mit.edu	37	chr19	14232432	14232432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagcccactcggatgaacTcctgtccatggtaggtgcag	12	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14232432T>C	uc002mye.2	-	3	486	c.314A>G	c.(313-315)GAG>GGG	p.E105G		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	105	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					0						TCGGATGAACTCCTGTCCATG	0.592													C	14232432	T	C	14232432	3	2	189	1	0	0	0	0	1	0	0	0	1038	1551	54	3	302	3	ASF1B	19	14232432	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	14254	14232432	44896551	4389	102246											
LPHN1	22859	broad.mit.edu	37	chr19	14268255	14268255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccgacagcagcagctcGttgatgcggccctggtactg	13	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14268255G>A	uc010xnn.1	-	15	2864	c.2568C>T	c.(2566-2568)AAC>AAT	p.N856N	LPHN1_uc010xno.1_Silent_p.N851N|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	856	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GCAGCAGCTCGTTGATGCGGC	0.637													A	14268255	G	A	14268255	2	1	189	1	0	0	0	0	0	0	0	1	8915	1136	40	1		1	LPHN1	19	14268255	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	35823	14268255	44860728	4390	102247											
CD97	976	broad.mit.edu	37	chr19	14501875	14501875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacattcaagaatgagagCgagaacacctgtcaaggtaa	9	7	2	3	rs140836731	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14501875C>T	uc002myl.2	+	4	453	c.330C>T	c.(328-330)AGC>AGT	p.S110S	CD97_uc002mym.2_Silent_p.S110S|CD97_uc002myn.2_Silent_p.S110S	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	110	Extracellular (Potential).|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			ovary(3)|breast(1)	4						AGAATGAGAGCGAGAACACCT	0.537													T	14501875	C	T	14501875	2	4	189	1	0	0	0	0	0	0	0	1	3049	767	27	1		1	CD97	19	14501875	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	233620	14501875	44627108	4391	102248											
PKN1	5585	broad.mit.edu	37	chr19	14554341	14554341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaccaacctgagccgcGtggcgggcctggagaagcag	16	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14554341G>A	uc002myp.2	+	3	550	c.382G>A	c.(382-384)GTG>ATG	p.V128M	PKN1_uc002myq.2_Missense_Mutation_p.V134M	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	128	REM 2.				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			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						CCTGAGCCGCGTGGCGGGCCT	0.647													A	14554341	G	A	14554341	3	1	189	1	0	0	0	0	1	0	0	0	11979	1145	40	1	435	1	PKN1	19	14554341	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	52466	14554341	44574642	4392	102249											
PKN1	5585	broad.mit.edu	37	chr19	14580254	14580254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaccggagcacgtgtgctTcgtgatggagtactcggccg	15	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14580254T>C	uc002myp.2	+	16	2246	c.2078T>C	c.(2077-2079)TTC>TCC	p.F693S	PKN1_uc002myq.2_Missense_Mutation_p.F699S|PKN1_uc002myr.2_Missense_Mutation_p.F33S	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	693	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			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						CACGTGTGCTTCGTGATGGAG	0.627													C	14580254	T	C	14580254	3	2	189	1	0	0	0	0	1	0	0	0	11979	1783	62	3	2183	3	PKN1	19	14580254	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	25913	14580254	44548729	4393	102250											
GIPC1	10755	broad.mit.edu	37	chr19	14591535	14591535	+	Frame_Shift_Del	DEL	C	C	-													agtcctccagcccgatctggCcccccaggagcttgtccatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14591534_14591534GC>G	uc002myt.3	-	4	615	c.345_345GC>C	c.(343-345)ggcfs	p.G115fs	GIPC1_uc002myv.3_Frame_Shift_Del_p.G18fs|GIPC1_uc002myu.3_Frame_Shift_Del_p.G115fs|GIPC1_uc002myw.3_Frame_Shift_Del_p.G18fs|GIPC1_uc002myx.3_Frame_Shift_Del_p.G115fs|GIPC1_uc002myy.3_Frame_Shift_Del_p.G18fs	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	115					G-protein coupled receptor protein signaling pathway|endothelial cell migration|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						GCCCGATCTGGCCCCCCAGGA	0.622											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	14591535	C	-	14591535	7	5	189	1	0	1	0	1	0	0	0	0	6392	739	26	0	677	0	GIPC1	19	14591535	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	11281	14591535	44537448	4394	102251											
DNAJB1	3337	broad.mit.edu	37	chr19	14629004	14629004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgggtcgctgagcacgTcgtaggcctcagcgatctcc	14	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14629004T>C	uc002myz.1	-	1	198	c.158A>G	c.(157-159)GAC>GGC	p.D53G	DNAJB1_uc010xnr.1_Intron	NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	53	J.				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(1328;0.0476)		GCTGAGCACGTCGTAGGCCTC	0.677													C	14629004	T	C	14629004	3	2	189	1	0	0	0	0	1	0	0	0	4615	1667	58	3	876	3	DNAJB1	19	14629004	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	37469	14629004	44499979	4395	102252											
NDUFB7	4713	broad.mit.edu	37	chr19	14682803	14682803	+	Frame_Shift_Del	DEL	G	G	-													caggtagcgccggaccaggtGggcccccatggctgcagtcg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14682803delG	uc002mzg.2	-	1	84	c.10delC	c.(10-12)CACfs	p.H4fs		NM_004146	NP_004137	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	4					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)	CGGACCAGGTGGGCCCCCATG	0.677													-	14682803	G	-	14682803	7	5	189	1	0	1	0	1	0	0	0	0	10286	1348	47	0	415	0	NDUFB7	19	14682803	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	53799	14682803	44446180	4396	102253											
OR7A10	390892	broad.mit.edu	37	chr19	14952342	14952342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccggtcataggccatcacGgtcagaaggaagttatccaa	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:14952342G>A	uc002mzx.1	-	1	348	c.348C>T	c.(346-348)ACC>ACT	p.T116T		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					AGGCCATCACGGTCAGAAGGA	0.483													A	14952342	G	A	14952342	2	1	189	1	0	0	0	0	0	0	0	1	11214	1103	39	1		1	OR7A10	19	14952342	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	269539	14952342	44176641	4397	102254											
SYDE1	85360	broad.mit.edu	37	chr19	15224736	15224737	+	Frame_Shift_Del	DEL	GA	GA	-													acgccctcatcctggatctgGagagagagctctccaagcaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:15224735_15224736GGA>G	uc002nah.1	+	7	2200_2201	c.2169_2170GGA>G	c.(2167-2172)ctggagfs	p.L723fs	SYDE1_uc002nai.1_Frame_Shift_Del_p.L656fs|SYDE1_uc002naj.1_Frame_Shift_Del_p.L380fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	723					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						TCCTGGATCTGGAGAGAGAGCT	0.609													-	15224737	GA	-	15224736	7	5	189	1	0	1	0	1	0	0	0	0	15432	1175	41	0	2200	0	SYDE1	19	15224736	Frame_Shift_Del	DEL	GA	TCGA-CG-5721-01A-11D-1600-08	272394	15224736	43904247	4398	102255											
NOTCH3	4854	broad.mit.edu	37	chr19	15271701	15271701	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggggattcgggggatggGgtcaggtaagggtgctcact	19	6	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:15271701G>T	uc002nan.2	-	33	6814	c.6738C>A	c.(6736-6738)ACC>ACA	p.T2246T		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	2246	Cytoplasmic (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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGGGATGGGGTCAGGTAAG	0.682													T	15271701	G	T	15271701	2	4	189	1	0	0	0	0	0	0	0	1	10550	1219	43	5		5	NOTCH3	19	15271701	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	46965	15271701	43857282	4399	102256											
NOTCH3	4854	broad.mit.edu	37	chr19	15302962	15302962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcagggctcacccaccCggcactcatccacgtcgctt	11	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:15302962C>T	uc002nan.2	-	4	564	c.488G>A	c.(487-489)CGG>CAG	p.R163Q	NOTCH3_uc002nao.1_Missense_Mutation_p.R163Q	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	163	Extracellular (Potential).|EGF-like 4; 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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTCACCCACCCGGCACTCATC	0.672													T	15302962	C	T	15302962	3	4	189	1	0	0	0	0	1	0	0	0	10550	652	23	1	6597	1	NOTCH3	19	15302962	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	31261	15302962	43826021	4400	102257											
BRD4	23476	broad.mit.edu	37	chr19	15376427	15376427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgagttgtgtttggtAccgtggaaacgccaggtttt	13	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:15376427A>G	uc002nar.2	-	5	809	c.587T>C	c.(586-588)GTA>GCA	p.V196A	BRD4_uc002nas.2_Missense_Mutation_p.V196A|BRD4_uc002nat.3_Missense_Mutation_p.V196A|BRD4_uc002nau.3_Missense_Mutation_p.V196A	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	196					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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGTGTTTGGTACCGTGGAAAC	0.572			T	NUT|C15orf55	lethal midline carcinoma of young people								G	15376427	A	G	15376427	3	3	189	1	0	0	0	0	1	0	0	0	1504	391	14	3	3580	3	BRD4	19	15376427	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	73465	15376427	43752556	4401	102258											
AKAP8	10270	broad.mit.edu	37	chr19	15465764	15465764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctttagactctgcatcagTttgttccacttcagcatccg	7	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:15465764T>C	uc002nav.2	-	14	2102	c.2041A>G	c.(2041-2043)ACT>GCT	p.T681A	AKAP8_uc010dzy.2_Missense_Mutation_p.T230A	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	681					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						TCTGCATCAGTTTGTTCCACT	0.547													C	15465764	T	C	15465764	3	2	189	1	0	0	0	0	1	0	0	0	457	1725	60	3	41	3	AKAP8	19	15465764	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	89337	15465764	43663219	4402	102259											
AKAP8	10270	broad.mit.edu	37	chr19	15479061	15479061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgtcggctgcacggTcccgcgtcctgtctcttctc	9	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:15479061T>C	uc002nav.2	-	9	1206	c.1145A>G	c.(1144-1146)GAC>GGC	p.D382G	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.D196G	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	382					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GGCTGCACGGTCCCGCGtcct	0.458													C	15479061	T	C	15479061	3	2	189	1	0	0	0	0	1	0	0	0	457	1667	58	3	957	3	AKAP8	19	15479061	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	13297	15479061	43649922	4403	102260											
OR10H2	26538	broad.mit.edu	37	chr19	15839069	15839069	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctcagtctccgagatcctCtacaccgtggccatcatccc	6	18	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:15839069C>T	uc002nbm.2	+	1	236	c.216C>T	c.(214-216)CTC>CTT	p.L72L		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCGAGATCCTCTACACCGTGG	0.622													T	15839069	C	T	15839069	2	4	189	1	0	0	0	0	0	0	0	1	10906	900	32	4		4	OR10H2	19	15839069	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	360008	15839069	43289914	4404	102261											
AP1M1	8907	broad.mit.edu	37	chr19	16319907	16319907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagccaccgtcaccaaCgcggtgtcctggcggtccga	11	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:16319907C>T	uc002ndu.2	+	5	638	c.465C>T	c.(463-465)AAC>AAT	p.N155N	AP1M1_uc002ndv.2_Silent_p.N155N|AP1M1_uc010xpd.1_Silent_p.N155N	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	155					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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			ovary(3)|breast(1)	4						CCGTCACCAACGCGGTGTCCT	0.587													T	16319907	C	T	16319907	2	4	189	1	0	0	0	0	0	0	0	1	734	535	19	1		1	AP1M1	19	16319907	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	480838	16319907	42809076	4405	102262											
CALR3	125972	broad.mit.edu	37	chr19	16596064	16596064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcaaatccacaaatatcGggtcctacaaaaaagattag	5	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:16596064G>A	uc002ned.2	-	4	465	c.402C>T	c.(400-402)CCC>CCT	p.P134P	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	134	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						CACAAATATCGGGTCCTACAA	0.308													A	16596064	G	A	16596064	2	1	189	1	0	0	0	0	0	0	0	1	2593	1103	39	1		1	CALR3	19	16596064	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	276157	16596064	42532919	4406	102263											
C19orf44	84167	broad.mit.edu	37	chr19	16612295	16612295	+	Frame_Shift_Del	DEL	A	A	-													cttgatggactcttctagagAaaaaaacacgaatcaaggct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:16612294_16612294GA>G	uc002neh.1	+	1	764	c.691_691GA>G	c.(691-693)gaafs	p.E231fs	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Frame_Shift_Del_p.E231fs|C19orf44_uc002neg.3_Frame_Shift_Del_p.E231fs|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	231										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTCTTCTAGAGAAAAAAACAC	0.373													-	16612295	A	-	16612295	7	5	189	1	0	1	0	1	0	0	0	0	1927	246	9	0	694	0	C19orf44	19	16612295	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	16231	16612295	42516688	4407	102264											
MED26	9441	broad.mit.edu	37	chr19	16688193	16688193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcacgctggtcaccccGgcgcttgcggctgcccagcc	14	17	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:16688193G>A	uc002nen.1	-	3	709	c.448C>T	c.(448-450)CGG>TGG	p.R150W	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	150					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			ovary(2)	2						TGGTCACCCCGGCGCTTGCGG	0.701													A	16688193	G	A	16688193	3	1	189	1	0	0	0	0	1	0	0	0	9444	1115	39	1	1358	1	MED26	19	16688193	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	75898	16688193	42440790	4408	102265											
SIN3B	23309	broad.mit.edu	37	chr19	16942437	16942437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaatggcaagttaaacatAcagtcgcctctgacaagcca	8	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:16942437A>G	uc002ney.1	+	3	374	c.360A>G	c.(358-360)ATA>ATG	p.I120M	SIN3B_uc002new.2_Missense_Mutation_p.I120M|SIN3B_uc002nex.2_Missense_Mutation_p.I52M|SIN3B_uc002nez.1_Missense_Mutation_p.I120M	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	120					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						AGTTAAACATACAGTCGCCTC	0.507													G	16942437	A	G	16942437	3	3	189	1	0	0	0	0	1	0	0	0	14326	381	14	3	370	3	SIN3B	19	16942437	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	254244	16942437	42186546	4409	102266											
CPAMD8	27151	broad.mit.edu	37	chr19	17039982	17039982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacagccacatcaaagcGggtgaggcgcagtggccgct	14	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17039982G>A	uc002nfb.2	-	24	3087	c.3055C>T	c.(3055-3057)CGC>TGC	p.R1019C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	972						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						ACATCAAAGCGGGTGAGGCGC	0.587													A	17039982	G	A	17039982	3	1	189	1	0	0	0	0	1	0	0	0	3795	1116	39	1	2819	1	CPAMD8	19	17039982	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	97545	17039982	42089001	4410	102267											
CPAMD8	27151	broad.mit.edu	37	chr19	17081839	17081839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcatcaccaccagtcccGtttcctaggcaacagacaac	7	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17081839G>A	uc002nfb.2	-	18	2248	c.2216C>T	c.(2215-2217)ACG>ATG	p.T739M		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	692						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CACCAGTCCCGTTTCCTAGGC	0.602													A	17081839	G	A	17081839	3	1	189	1	0	0	0	0	1	0	0	0	3795	1145	40	1	3682	1	CPAMD8	19	17081839	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	41857	17081839	42047144	4411	102268											
MYO9B	4650	broad.mit.edu	37	chr19	17312954	17312954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagaacgggaagatccacGtgggctacaaggatctgatg	13	8	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17312954G>A	uc010eak.2	+	28	4830	c.4678G>A	c.(4678-4680)GTG>ATG	p.V1560M	MYO9B_uc002nfi.2_Missense_Mutation_p.V1560M|MYO9B_uc002nfj.1_Missense_Mutation_p.V1560M|MYO9B_uc002nfl.1_Missense_Mutation_p.V109M	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1560	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(1)	1						GAAGATCCACGTGGGCTACAA	0.587													A	17312954	G	A	17312954	3	1	189	1	0	0	0	0	1	0	0	0	10085	1145	40	1	4784	1	MYO9B	19	17312954	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	231115	17312954	41816029	4412	102269											
ANKLE1	126549	broad.mit.edu	37	chr19	17394238	17394238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcagacgcctctttcgTcacagcggttgaggtctctg	11	13	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17394238T>C	uc002nga.2	+	5	941	c.665T>C	c.(664-666)GTC>GCC	p.V222A	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.V244A|ANKLE1_uc010xpn.1_Missense_Mutation_p.V276A|ANKLE1_uc002nfy.2_Missense_Mutation_p.V211A|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	222						nuclear envelope					0						GCCTCTTTCGTCACAGCGGTT	0.627													C	17394238	T	C	17394238	3	2	189	1	0	0	0	0	1	0	0	0	632	1667	58	3	683	3	ANKLE1	19	17394238	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	81284	17394238	41734745	4413	102270											
FAM129C	199786	broad.mit.edu	37	chr19	17653018	17653018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggccgagcggagccGggggcgcttggggcagctgg	22	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17653018G>A	uc010xpr.1	+	11	1475	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	FAM129C_uc010xpq.1_Missense_Mutation_p.R446Q|FAM129C_uc002ngy.3_Missense_Mutation_p.R172Q|FAM129C_uc010xpu.1_Missense_Mutation_p.R172Q|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.R172Q|FAM129C_uc002nhb.2_Missense_Mutation_p.R45Q	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	446											0						GAGCGGAGCCGGGGGCGCTTG	0.622													A	17653018	G	A	17653018	3	1	189	1	0	0	0	0	1	0	0	0	5438	1116	39	1	1379	1	FAM129C	19	17653018	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	258780	17653018	41475965	4414	102271											
GLT25D1	79709	broad.mit.edu	37	chr19	17679457	17679457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacctggccttctacccacCtcaccctgactacacctggt	6	18	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17679457C>A	uc002nhc.1	+	5	776	c.764C>A	c.(763-765)CCT>CAT	p.P255H	GLT25D1_uc010eax.1_Missense_Mutation_p.P23H	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	255					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						TTCTACCCACCTCACCCTGAC	0.602													A	17679457	C	A	17679457	3	1	189	1	0	0	0	0	1	0	0	0	6466	681	24	5	782	5	GLT25D1	19	17679457	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	26439	17679457	41449526	4415	102272											
UNC13A	23025	broad.mit.edu	37	chr19	17750650	17750650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcacacacttcctaccCggtacatggagaggtcaatc	8	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17750650C>T	uc002nhd.2	-	23	3119	c.3119G>A	c.(3118-3120)CGG>CAG	p.R1040Q		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	952					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ACTTCCTACCCGGTACATGGA	0.567													T	17750650	C	T	17750650	3	4	189	1	0	0	0	0	1	0	0	0	16981	666	23	1	2340	1	UNC13A	19	17750650	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	71193	17750650	41378333	4416	102273											
FCHO1	23149	broad.mit.edu	37	chr19	17885203	17885203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccccaatctatcctcagCgatgaaacgtttgcggggag	11	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17885203C>T	uc010ebb.2	+	12	1025	c.836C>T	c.(835-837)GCG>GTG	p.A279V	FCHO1_uc002nhg.3_Missense_Mutation_p.A279V|FCHO1_uc002nhh.2_Missense_Mutation_p.A279V|FCHO1_uc010xpw.1_Missense_Mutation_p.A229V|FCHO1_uc010ebc.1_Missense_Mutation_p.A286V	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	279										breast(1)	1						CTATCCTCAGCGATGAAACGT	0.627													T	17885203	C	T	17885203	3	4	189	1	0	0	0	0	1	0	0	0	5787	782	27	1	874	1	FCHO1	19	17885203	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	134553	17885203	41243780	4417	102274											
B3GNT3	10331	broad.mit.edu	37	chr19	17922425	17922425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgcgccaacgccagcTtcgtgctcaacggggatgat	13	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17922425T>C	uc002nhk.1	+	3	698	c.613T>C	c.(613-615)TTC>CTC	p.F205L	B3GNT3_uc002nhl.1_Missense_Mutation_p.F205L|B3GNT3_uc010ebd.1_Missense_Mutation_p.F205L|B3GNT3_uc010ebe.1_Missense_Mutation_p.F205L	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	205	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						CAACGCCAGCTTCGTGCTCAA	0.582													C	17922425	T	C	17922425	3	2	189	1	0	0	0	0	1	0	0	0	1258	1609	56	3	619	3	B3GNT3	19	17922425	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	37222	17922425	41206558	4418	102275											
RPL18A	6142	broad.mit.edu	37	chr19	17973010	17973010	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaataccgggacctgaccacCgcaggcgctgtcacccagtg	12	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:17973010C>A	uc002nhp.1	+	3	341	c.306C>A	c.(304-306)ACC>ACA	p.T102T	SNORA68_uc002nhq.1_5'Flank	NM_000980	NP_000971	Q02543	RL18A_HUMAN	ribosomal protein L18a	102					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						ACCTGACCACCGCAGGCGCTG	0.617													A	17973010	C	A	17973010	2	1	189	1	0	0	0	0	0	0	0	1	13565	639	23	5		5	RPL18A	19	17973010	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	50585	17973010	41155973	4419	102276											
MAST3	23031	broad.mit.edu	37	chr19	18252739	18252739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccagcccactcctaccttCgctgaaaggagcttcagtga	9	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18252739C>T	uc002nhz.3	+	20	2166	c.2166C>T	c.(2164-2166)TTC>TTT	p.F722F		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	722							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						CTCCTACCTTCGCTGAAAGGA	0.522													T	18252739	C	T	18252739	2	4	189	1	0	0	0	0	0	0	0	1	9326	883	31	1		1	MAST3	19	18252739	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	279729	18252739	40876244	4420	102277											
PIK3R2	5296	broad.mit.edu	37	chr19	18274130	18274130	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgcccagcttaaggtctatCaccagcagtaccaggacaag	10	13	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18274130C>T	uc002nia.1	+	11	1860	c.1348C>T	c.(1348-1350)CAC>TAC	p.H450Y	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	450					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			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						TAAGGTCTATCACCAGCAGTA	0.572													T	18274130	C	T	18274130	3	4	189	1	0	0	0	0	1	0	0	0	11919	826	29	4	1386	4	PIK3R2	19	18274130	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21391	18274130	40854853	4421	102278											
PIK3R2	5296	broad.mit.edu	37	chr19	18279691	18279691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagccagcggggctgctAcgcctgctccgtggtgtgag	17	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18279691A>G	uc002nia.1	+	15	2476	c.1964A>G	c.(1963-1965)TAC>TGC	p.Y655C	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	655	SH2 2.				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			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CGGGGCTGCTACGCCTGCTCC	0.652													G	18279691	A	G	18279691	3	3	189	1	0	0	0	0	1	0	0	0	11919	391	14	3	2018	3	PIK3R2	19	18279691	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5561	18279691	40849292	4422	102279											
IFI30	10437	broad.mit.edu	37	chr19	18288041	18288041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcatgcacgccaacgCccagcggacagatgctctcc	10	17	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18288041C>T	uc002nic.1	+	5	648	c.575C>T	c.(574-576)GCC>GTC	p.A192V	PIK3R2_uc002nib.1_RNA	NM_006332	NP_006323	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	192					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors				0						CACGCCAACGCCCAGCGGACA	0.597													T	18288041	C	T	18288041	3	4	189	1	0	0	0	0	1	0	0	0	7515	739	26	2	593	2	IFI30	19	18288041	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8350	18288041	40840942	4423	102280											
SSBP4	170463	broad.mit.edu	37	chr19	18543405	18543405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgtgggccagccccagTggaaactcggtgagcctatg	15	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18543405T>C	uc002niy.2	+	11	979	c.741T>C	c.(739-741)AGT>AGC	p.S247S	SSBP4_uc002niz.2_Silent_p.S225S	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4 isoform a	247	Pro-rich.					nucleus	single-stranded DNA binding				0						CCAGCCCCAGTGGAAACTCGG	0.662													C	18543405	T	C	18543405	2	2	189	1	0	0	0	0	0	0	0	1	15181	1693	59	3		3	SSBP4	19	18543405	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	255364	18543405	40585578	4424	102281											
ELL	8178	broad.mit.edu	37	chr19	18557206	18557206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgctcaatgcgggcgtgCaggtcgcggtactcgctgta	15	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18557206C>T	uc002njh.2	-	10	1689	c.1617G>A	c.(1615-1617)CTG>CTA	p.L539L	ELL_uc010ebq.2_Silent_p.L482L|ELL_uc002njg.2_Silent_p.L406L	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	539					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCGGGCGTGCAGGTCGCGGT	0.632			T	MLL	AL								T	18557206	C	T	18557206	2	4	189	1	0	0	0	0	0	0	0	1	5062	697	25	2		2	ELL	19	18557206	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	13801	18557206	40571777	4425	102282											
FKBP8	23770	broad.mit.edu	37	chr19	18648475	18648475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacaaggctgcaggagCgcagggctgcgcggtagtgg	18	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18648475C>T	uc002njk.1	-	6	991	c.878G>A	c.(877-879)CGC>CAC	p.R293H	FKBP8_uc002nji.1_Missense_Mutation_p.R131H|FKBP8_uc010xqi.1_Missense_Mutation_p.R322H|FKBP8_uc002njj.1_Missense_Mutation_p.R294H|FKBP8_uc002njl.1_Missense_Mutation_p.R294H|FKBP8_uc002njm.1_Missense_Mutation_p.R293H|FKBP8_uc010ebr.1_Missense_Mutation_p.R132H|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	293	TPR 2.				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			ovary(1)	1						GCTGCAGGAGCGCAGGGCTGC	0.632													T	18648475	C	T	18648475	3	4	189	1	0	0	0	0	1	0	0	0	5914	768	27	1	376	1	FKBP8	19	18648475	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	91269	18648475	40480508	4426	102283											
CRTC1	23373	broad.mit.edu	37	chr19	18886579	18886579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggagcctgccggactcGcagcaactgggatacgccag	14	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18886579G>A	uc002nkb.3	+	13	1729	c.1641G>A	c.(1639-1641)TCG>TCA	p.S547S	CRTC1_uc010ebv.2_Silent_p.S563S|CRTC1_uc010ebw.2_Silent_p.S383S|CRTC1_uc002nkc.3_Silent_p.S245S	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	547					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	p.S547S(1)	CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						TGCCGGACTCGCAGCAACTGG	0.687													A	18886579	G	A	18886579	2	1	189	1	0	0	0	0	0	0	0	1	3899	1074	38	1		1	CRTC1	19	18886579	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	238104	18886579	40242404	4427	102284											
COMP	1311	broad.mit.edu	37	chr19	18893913	18893913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgttctcctgggagaaGcagaagacccccaggcggcc	13	12	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:18893913G>A	uc002nke.2	-	18	2214	c.2178C>T	c.(2176-2178)TGC>TGT	p.C726C	COMP_uc002nkd.2_Silent_p.C693C|COMP_uc010xqj.1_Silent_p.C673C	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	726	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						CCTGGGAGAAGCAGAAGACCC	0.652													A	18893913	G	A	18893913	2	1	189	1	0	0	0	0	0	0	0	1	3724	963	34	2		2	COMP	19	18893913	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7334	18893913	40235070	4428	102285											
MEF2B	100271849	broad.mit.edu	37	chr19	19260114	19260114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacacggtccatgtccGtgctggcatactggaagagg	14	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:19260114G>A	uc002nlm.2	-	3	293	c.179C>T	c.(178-180)ACG>ATG	p.T60M	MEF2B_uc002nln.2_Missense_Mutation_p.T107M|MEF2B_uc002nll.2_Missense_Mutation_p.T60M|LOC729991-MEF2B_uc010xqo.1_Missense_Mutation_p.T60M|LOC729991-MEF2B_uc010xqp.1_Missense_Mutation_p.T60M|LOC729991-MEF2B_uc002nlo.2_Missense_Mutation_p.T60M|LOC729991-MEF2B_uc002nlp.2_Missense_Mutation_p.T60M|MEF2B_uc002nlk.2_Missense_Mutation_p.T60M	NM_001145785	NP_001139257			myocyte enhancer factor 2B isoform a											skin(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GTCCATGTCCGTGCTGGCATA	0.587													A	19260114	G	A	19260114	3	1	189	1	0	0	0	0	1	0	0	0	9456	1145	40	1	955	1	MEF2B	19	19260114	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	366201	19260114	39868869	4429	102286											
RFXANK	8625	broad.mit.edu	37	chr19	19308408	19308408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctttggagagattgagaCcgttcgcttcctgctggagt	13	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:19308408C>T	uc002nls.2	+	6	921	c.416C>T	c.(415-417)ACC>ATC	p.T139I	RFXANK_uc002nlt.2_Missense_Mutation_p.T116I|RFXANK_uc002nlu.2_Missense_Mutation_p.T117I|RFXANK_uc002nlv.2_Missense_Mutation_p.T139I|RFXANK_uc002nlw.2_Missense_Mutation_p.T138I	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	139	ANK 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			GAGATTGAGACCGTTCGCTTC	0.657													T	19308408	C	T	19308408	3	4	189	1	0	0	0	0	1	0	0	0	13269	507	18	4	430	4	RFXANK	19	19308408	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	48294	19308408	39820575	4430	102287											
GATAD2A	54815	broad.mit.edu	37	chr19	19611975	19611975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgggagccctacatgtGtgcacagtgcaagacggact	13	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:19611975G>A	uc010xqt.1	+	9	1562	c.1250G>A	c.(1249-1251)TGT>TAT	p.C417Y	GATAD2A_uc010xqu.1_Missense_Mutation_p.C46Y|GATAD2A_uc010xqv.1_Missense_Mutation_p.C437Y|GATAD2A_uc010xqw.1_Missense_Mutation_p.C245Y	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	417	GATA-type.				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCCTACATGTGTGCACAGTGC	0.617													A	19611975	G	A	19611975	3	1	189	1	0	0	0	0	1	0	0	0	6260	1377	48	4	1280	4	GATAD2A	19	19611975	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	303567	19611975	39517008	4431	102288											
ZNF101	94039	broad.mit.edu	37	chr19	19788767	19788767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatctctacagagatgtgaCgctggaaaccttcaggaacc	10	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:19788767C>T	uc002nni.1	+	2	208	c.98C>T	c.(97-99)ACG>ATG	p.T33M	ZNF101_uc010ecg.1_Translation_Start_Site|ZNF101_uc002nnj.1_Translation_Start_Site	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AGAGATGTGACGCTGGAAACC	0.498													T	19788767	C	T	19788767	3	4	189	1	0	0	0	0	1	0	0	0	17711	536	19	1	104	1	ZNF101	19	19788767	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	176792	19788767	39340216	4432	102289											
ZNF101	94039	broad.mit.edu	37	chr19	19790797	19790797	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgaaagagctcacacTggagaaagaccttatgaatg	10	8	1	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:19790797T>C	uc002nni.1	+	4	1109	c.999T>C	c.(997-999)ACT>ACC	p.T333T	ZNF101_uc010ecg.1_Silent_p.T213T|ZNF101_uc002nnj.1_Silent_p.T213T	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAGCTCACACTGGAGAAAGAC	0.373													C	19790797	T	C	19790797	2	2	189	1	0	0	0	0	0	0	0	1	17711	1567	55	3		3	ZNF101	19	19790797	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2030	19790797	39338186	4433	102290											
ZNF682	91120	broad.mit.edu	37	chr19	20117187	20117187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacctcttaaagactttgTcacatttttcacatttgtag	5	8	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:20117187T>C	uc002noq.2	-	4	1247	c.1124A>G	c.(1123-1125)GAC>GGC	p.D375G	ZNF682_uc002noo.2_Missense_Mutation_p.D343G|ZNF682_uc002nop.2_Missense_Mutation_p.D343G|ZNF682_uc010eck.2_Missense_Mutation_p.D299G	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	375	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						AAAGACTTTGTCACATTTTTC	0.358													C	20117187	T	C	20117187	3	2	189	1	0	0	0	0	1	0	0	0	18086	1667	58	3	376	3	ZNF682	19	20117187	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	326390	20117187	39011796	4434	102291											
ZNF486	90649	broad.mit.edu	37	chr19	20308052	20308052	+	Frame_Shift_Del	DEL	A	A	-													acataaaagaagacatactgAaaaaaaacctttgaaatata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:20308051_20308051GA>G	uc002nou.2	+	3	589	c.532_532GA>G	c.(532-534)gaafs	p.E178fs		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	178					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						AAGACATACTGAAAAAAAACC	0.303													-	20308052	A	-	20308052	7	5	189	1	0	1	0	1	0	0	0	0	17936	246	9	0	547	0	ZNF486	19	20308052	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	190865	20308052	38820931	4435	102292											
ZNF486	90649	broad.mit.edu	37	chr19	20308530	20308530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatttcatcctcgatcctTagtaaacatgagaagattca	5	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:20308530T>C	uc002nou.2	+	4	1068	c.1011T>C	c.(1009-1011)CTT>CTC	p.L337L		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	337	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTCGATCCTTAGTAAACATG	0.408													C	20308530	T	C	20308530	2	2	189	1	0	0	0	0	0	0	0	1	17936	1741	61	3		3	ZNF486	19	20308530	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	478	20308530	38820453	4436	102293											
ZNF430	80264	broad.mit.edu	37	chr19	21240516	21240516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggcaaagcctttaacCggtccccaaaacttactgca	7	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21240516C>T	uc002npj.2	+	5	1512	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	ZNF430_uc002npk.2_Missense_Mutation_p.R467W	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	468	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						AGCCTTTAACCGGTCCCCAAA	0.388													T	21240516	C	T	21240516	3	4	189	1	0	0	0	0	1	0	0	0	17901	643	23	1	1420	1	ZNF430	19	21240516	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	931986	21240516	37888467	4437	102294											
ZNF714	148206	broad.mit.edu	37	chr19	21299731	21299731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaatttacagttaagaaaAggctccgcaaatgtggttga	11	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21299731A>G	uc002npo.3	+	5	621	c.261A>G	c.(259-261)AAA>AAG	p.K87K	ZNF714_uc002npl.2_5'UTR|ZNF714_uc010ecp.1_Silent_p.K39K|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGTTAAGAAAAGGCTCCGCAA	0.373													G	21299731	A	G	21299731	2	3	189	1	0	0	0	0	0	0	0	1	18115	69	3	3		3	ZNF714	19	21299731	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	59215	21299731	37829252	4438	102295											
ZNF714	148206	broad.mit.edu	37	chr19	21300315	21300315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcattcatgttaaagaaaAaccctacaaatgtgaagaat	6	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21300315A>G	uc002npo.3	+	6	1208	c.848A>G	c.(847-849)AAA>AGA	p.K283R	ZNF714_uc002npl.2_Missense_Mutation_p.K128R|ZNF714_uc010ecp.1_Missense_Mutation_p.K234R|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTAAAGAAAAACCCTACAAA	0.343													G	21300315	A	G	21300315	3	3	189	1	0	0	0	0	1	0	0	0	18115	14	1	3	855	3	ZNF714	19	21300315	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	584	21300315	37828668	4439	102296											
ZNF708	7562	broad.mit.edu	37	chr19	21477133	21477133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaattatcttatgattcGtaaggtttgaggacttttta	8	3	1	3	rs148687204	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21477133G>A	uc002npq.1	-	4	833	c.635C>T	c.(634-636)ACG>ATG	p.T212M	ZNF708_uc002npr.1_Missense_Mutation_p.T148M|ZNF708_uc010ecs.1_Missense_Mutation_p.T148M	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	212	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						CTTATGATTCGTAAGGTTTGA	0.338													A	21477133	G	A	21477133	3	1	189	1	0	0	0	0	1	0	0	0	18109	1145	40	1	1060	1	ZNF708	19	21477133	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	176818	21477133	37651850	4440	102297											
ZNF493	284443	broad.mit.edu	37	chr19	21606088	21606088	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatattagagagaattcTtaccgatgtgaagaatgtgg	10	4	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21606088T>G	uc002npx.2	+	2	523	c.243T>G	c.(241-243)TCT>TCG	p.S81S	ZNF493_uc002npw.2_Silent_p.S209S|ZNF493_uc002npy.2_Silent_p.S81S	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAGAGAATTCTTACCGATGTG	0.348													G	21606088	T	G	21606088	2	3	189	1	0	0	0	0	0	0	0	1	17941	1596	56	5		5	ZNF493	19	21606088	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	128955	21606088	37522895	4441	102298											
ZNF493	284443	broad.mit.edu	37	chr19	21606418	21606418	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataattcataatggagaaaaAccctataaatgtgaagaatg	7	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21606418A>G	uc002npx.2	+	2	853	c.573A>G	c.(571-573)AAA>AAG	p.K191K	ZNF493_uc002npw.2_Silent_p.K319K|ZNF493_uc002npy.2_Silent_p.K191K	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATGGAGAAAAACCCTATAAAT	0.338													G	21606418	A	G	21606418	2	3	189	1	0	0	0	0	0	0	0	1	17941	40	2	3		3	ZNF493	19	21606418	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	330	21606418	37522565	4442	102299											
ZNF43	7594	broad.mit.edu	37	chr19	21991830	21991830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagggtttctctccagTatgaattctcttatgtttag	9	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21991830T>C	uc002nqj.2	-	4	1139	c.1009A>G	c.(1009-1011)ACT>GCT	p.T337A	ZNF43_uc010ecv.2_Missense_Mutation_p.T331A|ZNF43_uc002nql.2_Missense_Mutation_p.T331A|ZNF43_uc002nqm.2_Missense_Mutation_p.T331A|ZNF43_uc002nqk.2_Missense_Mutation_p.T267A	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTCTCCAGTATGAATTCTC	0.378													C	21991830	T	C	21991830	3	2	189	1	0	0	0	0	1	0	0	0	17900	1638	57	3	1424	3	ZNF43	19	21991830	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	385412	21991830	37137153	4443	102300											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					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)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	189	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	257	21992087	37136896	4444	102301											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	189	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	9939	22002026	37126957	4445	102302											
ZNF208	7757	broad.mit.edu	37	chr19	22156465	22156465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atactaaagcctttgccacaTtcttcacatttgtagggtgt	7	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:22156465T>C	uc002nqp.2	-	4	1520	c.1371A>G	c.(1369-1371)GAA>GAG	p.E457E	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_Splice_Site	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTTGCCACATTCTTCACATT	0.378													C	22156465	T	C	22156465	2	2	189	1	0	0	0	0	0	0	0	1	17763	1490	52	3		3	ZNF208	19	22156465	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	154439	22156465	36972518	4446	102303											
ZNF257	113835	broad.mit.edu	37	chr19	22270970	22270970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccaatgtctgataactAcccagagcaaaatgtatcaa	5	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:22270970A>G	uc010ecx.2	+	4	587	c.418A>G	c.(418-420)ACC>GCC	p.T140A	ZNF257_uc010ecy.2_Missense_Mutation_p.T108A	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTGATAACTACCCAGAGCAA	0.318													G	22270970	A	G	22270970	3	3	189	1	0	0	0	0	1	0	0	0	17797	391	14	3	432	3	ZNF257	19	22270970	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	114505	22270970	36858013	4447	102304											
ZNF257	113835	broad.mit.edu	37	chr19	22271493	22271493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaattcatactggagagaAaccctacaaatgtgaagagt	10	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:22271493A>G	uc010ecx.2	+	4	1110	c.941A>G	c.(940-942)AAA>AGA	p.K314R	ZNF257_uc010ecy.2_Missense_Mutation_p.K282R	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTGGAGAGAAACCCTACAAA	0.418													G	22271493	A	G	22271493	3	3	189	1	0	0	0	0	1	0	0	0	17797	14	1	3	955	3	ZNF257	19	22271493	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	523	22271493	36857490	4448	102305											
ZNF676	163223	broad.mit.edu	37	chr19	22363441	22363441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagggtttctctccagTatgaataatcttatgtttag	8	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:22363441T>C	uc002nqs.1	-	3	1396	c.1078A>G	c.(1078-1080)ACT>GCT	p.T360A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCTCCAGTATGAATAATC	0.393													C	22363441	T	C	22363441	3	2	189	1	0	0	0	0	1	0	0	0	18080	1638	57	3	692	3	ZNF676	19	22363441	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	91948	22363441	36765542	4449	102306											
ZNF676	163223	broad.mit.edu	37	chr19	22363694	22363694	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagggcttctcttcagcAtgaattgccttatgtgtatt	9	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:22363694A>G	uc002nqs.1	-	3	1143	c.825T>C	c.(823-825)CAT>CAC	p.H275H		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	275	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTTCAGCATGAATTGCCT	0.398													G	22363694	A	G	22363694	2	3	189	1	0	0	0	0	0	0	0	1	18080	214	8	3		3	ZNF676	19	22363694	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	253	22363694	36765289	4450	102307											
ZNF91	7644	broad.mit.edu	37	chr19	23544026	23544026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagaaagacttgaggaAtgattaaaagctttgccaca	10	5	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:23544026A>G	uc002nre.2	-	4	1868	c.1755T>C	c.(1753-1755)CAT>CAC	p.H585H	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.H553H	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	585	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GACTTGAGGAATGATTAAAAG	0.353													G	23544026	A	G	23544026	2	3	189	1	0	0	0	0	0	0	0	1	18197	98	4	3		3	ZNF91	19	23544026	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1180332	23544026	35584957	4451	102308											
C19orf12	83636	broad.mit.edu	37	chr19	30199167	30199167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctgcacttaccaacggCgagtcccggtgggccgccca	11	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:30199167C>T	uc002nsk.2	-	2	585	c.154G>A	c.(154-156)GCC>ACC	p.A52T	C19orf12_uc002nsj.2_Missense_Mutation_p.A63T|C19orf12_uc002nsl.2_Intron|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	52	Helical; (Potential).					integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TTACCAACGGCGAGTCCCGGT	0.547													T	30199167	C	T	30199167	3	4	189	1	0	0	0	0	1	0	0	0	1909	768	27	1	279	1	C19orf12	19	30199167	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6655141	30199167	28929816	4452	102309											
ZNF536	9745	broad.mit.edu	37	chr19	30935840	30935840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctctatggcaagggcgaGctgcccatgaaggagaagga	15	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:30935840G>A	uc002nsu.1	+	2	1509	c.1371G>A	c.(1369-1371)GAG>GAA	p.E457E	ZNF536_uc010edd.1_Silent_p.E457E	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAAGGGCGAGCTGCCCATGA	0.642													A	30935840	G	A	30935840	2	1	189	1	0	0	0	0	0	0	0	1	17971	962	34	2		2	ZNF536	19	30935840	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	736673	30935840	28193143	4453	102310											
TSHZ3	57616	broad.mit.edu	37	chr19	31768852	31768852	+	Frame_Shift_Del	DEL	T	T	-													tggcaactttctcagtgaccTttttcaccagctcctccatg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:31768851_31768851CT>C	uc002nsy.4	-	1	1913	c.1848_1848AG>G	c.(1846-1848)aagfs	p.K616fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	616					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)					TCTCAGTGACCTTTTTCACCA	0.577													-	31768852	T	-	31768852	7	5	189	1	0	1	0	1	0	0	0	0	16622	1609	56	0	1402	0	TSHZ3	19	31768852	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	833012	31768852	27360131	4454	102311											
C19orf40	91442	broad.mit.edu	37	chr19	33464114	33464114	+	Frame_Shift_Del	DEL	C	C	-													agaccatccatggaaaagaaCccccctgatgatacgggccc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:33464113_33464113AC>A	uc002nud.4	+	1	129	c.11_11AC>A	c.(10-12)aacfs	p.N4fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	4					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGGAAAAGAACCCCCCTGAT	0.612								Direct reversal of damage					-	33464114	C	-	33464114	7	5	189	1	0	1	0	1	0	0	0	0	1923	506	18	0	14	0	C19orf40	19	33464114	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	1695262	33464114	25664869	4455	102312											
RHPN2	85415	broad.mit.edu	37	chr19	33471032	33471032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctgttcttgttggtgCcccaactcaggaaggaaagc	11	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:33471032C>T	uc002nuf.2	-	15	1997	c.1931G>A	c.(1930-1932)GGC>GAC	p.G644D	RHPN2_uc010xro.1_Missense_Mutation_p.G493D|RHPN2_uc002nue.2_Missense_Mutation_p.G374D	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	644					signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					CTTGTTGGTGCCCCAACTCAG	0.507													T	33471032	C	T	33471032	3	4	189	1	0	0	0	0	1	0	0	0	13351	739	26	2	133	2	RHPN2	19	33471032	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6918	33471032	25657951	4456	102313											
WDR88	126248	broad.mit.edu	37	chr19	33647305	33647305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgttttaccttcagtgGccatttcctgtgtacaagct	8	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:33647305G>A	uc002nui.2	+	7	932	c.854G>A	c.(853-855)GGC>GAC	p.G285D		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	285	WD 5.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					ACCTTCAGTGGCCATTTCCTG	0.478													A	33647305	G	A	33647305	3	1	189	1	0	0	0	0	1	0	0	0	17332	1203	42	2	880	2	WDR88	19	33647305	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	176273	33647305	25481678	4457	102314											
LRP3	4037	broad.mit.edu	37	chr19	33693826	33693826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggcctggcccctcaActacccgccaggcaccaact	8	21	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:33693826A>G	uc010edh.2	+	3	287	c.194A>G	c.(193-195)AAC>AGC	p.N65S	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'Flank	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	65	Extracellular (Potential).|CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					TGGCCCCTCAACTACCCGCCA	0.647													G	33693826	A	G	33693826	3	3	189	1	0	0	0	0	1	0	0	0	8958	43	2	3	204	3	LRP3	19	33693826	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	46521	33693826	25435157	4458	102315											
SLC7A10	56301	broad.mit.edu	37	chr19	33700230	33700230	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtgagtctgtgcacAcactttggtttgcttctcca	8	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:33700230A>G	uc002num.2	-	10	1572	c.1425T>C	c.(1423-1425)TGT>TGC	p.C475C	SLC7A10_uc002nul.2_Silent_p.C322C	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	475					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)					GTCTGTGCACACACTTTGGTT	0.597													G	33700230	A	G	33700230	2	3	189	1	0	0	0	0	0	0	0	1	14693	157	6	3		3	SLC7A10	19	33700230	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6404	33700230	25428753	4459	102316											
SLC7A10	56301	broad.mit.edu	37	chr19	33703794	33703794	+	Frame_Shift_Del	DEL	G	G	-													agcacccgggaggctgtggtGggggggatgcagttggggaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:33703793_33703793TG>T	uc002num.2	-	2	619	c.472_472CA>A	c.(472-474)accfs	p.T158fs	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Frame_Shift_Del_p.T131fs	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	158					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)					GAGGCTGTGGTGGGGGGGATG	0.637													-	33703794	G	-	33703794	7	5	189	1	0	1	0	1	0	0	0	0	14693	1335	47	0	1136	0	SLC7A10	19	33703794	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	3564	33703794	25425189	4460	102317											
KIAA0355	9710	broad.mit.edu	37	chr19	34818956	34818956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacacccccgcagcccaTgcagtgtgagctccccaccg	10	19	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:34818956T>C	uc002nvd.3	+	6	1863	c.1004T>C	c.(1003-1005)ATG>ACG	p.M335T		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	335										ovary(1)	1	Esophageal squamous(110;0.162)					CCGCAGCCCATGCAGTGTGAG	0.612													C	34818956	T	C	34818956	3	2	189	1	0	0	0	0	1	0	0	0	8170	1464	51	3	1022	3	KIAA0355	19	34818956	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1115162	34818956	24310027	4461	102318											
MAG	4099	broad.mit.edu	37	chr19	35786812	35786812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgagctgggcgggaagTactacttccgtggggacctg	16	12	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:35786812T>C	uc002nyy.1	+	4	492	c.343T>C	c.(343-345)TAC>CAC	p.Y115H	MAG_uc002nyx.1_Missense_Mutation_p.Y115H|MAG_uc010eds.1_Missense_Mutation_p.Y90H|MAG_uc002nyz.1_Missense_Mutation_p.Y115H	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	115	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			GGGCGGGAAGTACTACTTCCG	0.652													C	35786812	T	C	35786812	3	2	189	1	0	0	0	0	1	0	0	0	9162	1638	57	3	349	3	MAG	19	35786812	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	967856	35786812	23342171	4462	102319											
MAG	4099	broad.mit.edu	37	chr19	35800929	35800929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcgagcgggagttcgtgTactcggagcgcagcggcctc	17	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:35800929T>C	uc002nyy.1	+	8	1533	c.1384T>C	c.(1384-1386)TAC>CAC	p.Y462H	MAG_uc002nyx.1_Missense_Mutation_p.Y462H|MAG_uc010eds.1_Missense_Mutation_p.Y437H|MAG_uc002nyz.1_Missense_Mutation_p.Y462H	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	462	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			GGAGTTCGTGTACTCGGAGCG	0.677													C	35800929	T	C	35800929	3	2	189	1	0	0	0	0	1	0	0	0	9162	1638	57	3	1406	3	MAG	19	35800929	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	14117	35800929	23328054	4463	102320											
CD22	933	broad.mit.edu	37	chr19	35828763	35828763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaacccggagtacaCgacggtatcctggctcaagg	12	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:35828763C>T	uc010edt.2	+	5	901	c.824C>T	c.(823-825)ACG>ATG	p.T275M	CD22_uc010xst.1_Missense_Mutation_p.T103M|CD22_uc010edu.2_Missense_Mutation_p.T275M|CD22_uc010edv.2_Missense_Mutation_p.T275M|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	275	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	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)	CCGGAGTACACGACGGTATCC	0.562													T	35828763	C	T	35828763	3	4	189	1	0	0	0	0	1	0	0	0	2985	536	19	1	838	1	CD22	19	35828763	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	27834	35828763	23300220	4464	102321											
GAPDHS	26330	broad.mit.edu	37	chr19	36024441	36024441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagaggccatgtcgaagcgCgacatcgtcctcaccaatgt	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36024441C>T	uc002oaf.1	+	1	128	c.12C>T	c.(10-12)CGC>CGT	p.R4R		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	4					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	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)	TGTCGAAGCGCGACATCGTCC	0.627													T	36024441	C	T	36024441	2	4	189	1	0	0	0	0	0	0	0	1	6237	755	27	1		1	GAPDHS	19	36024441	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	195678	36024441	23104542	4465	102322											
ATP4A	495	broad.mit.edu	37	chr19	36047837	36047837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcctgcggtgcgacacTtgagcacagcatcagggacg	15	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36047837T>C	uc002oal.1	-	12	1876	c.1847A>G	c.(1846-1848)AAG>AGG	p.K616R	ATP4A_uc010eee.1_Intron	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	616	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	GGTGCGACACTTGAGCACAGC	0.577													C	36047837	T	C	36047837	3	2	189	1	0	0	0	0	1	0	0	0	1145	1609	56	3	1304	3	ATP4A	19	36047837	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	23396	36047837	23081146	4466	102323											
ATP4A	495	broad.mit.edu	37	chr19	36049992	36049992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagtccctgtcttgtcCgagcagatcaccgaagtgga	13	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36049992C>T	uc002oal.1	-	8	1187	c.1158G>A	c.(1156-1158)TCG>TCA	p.S386S	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	386	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	CTGTCTTGTCCGAGCAGATCA	0.572													T	36049992	C	T	36049992	2	4	189	1	0	0	0	0	0	0	0	1	1145	639	23	1		1	ATP4A	19	36049992	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2155	36049992	23078991	4467	102324											
ZBTB32	27033	broad.mit.edu	37	chr19	36207454	36207454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccaagcacctgcggAcacacggggccgctccgtac	11	17	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36207454A>G	uc002oay.2	+	6	1474	c.1264A>G	c.(1264-1266)ACA>GCA	p.T422A	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	422	C2H2-type 2.				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			ovary(1)|skin(1)	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)			GCACCTGCGGACACACGGGGC	0.687											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	36207454	A	G	36207454	3	3	189	1	0	0	0	0	1	0	0	0	17532	275	10	3	1282	3	ZBTB32	19	36207454	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	157462	36207454	22921529	4468	102325											
MLL2	8085	broad.mit.edu	37	chr19	36218451	36218451	+	Frame_Shift_Del	DEL	G	G	-													gccctgagcggggccctccaGgggggcctgcgccaggtgct					rs34078597		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36218450_36218450AG>A	uc021usv.1	+	15	4229	c.4229_4229AG>A	c.(4228-4230)cagfs	p.Q1410fs	MLL2_uc021usu.1_Frame_Shift_Del_p.Q224fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGCCCTCCAGGGGGGCCTG	0.706			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36218451	G	-	36218451	7	5	189	1	0	1	0	1	0	0	0	0	9621	991	35	0		0	MLL2	19	36218451	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	10997	36218451	22910532	4469	102326											
PSENEN	55851	broad.mit.edu	37	chr19	36236883	36236883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgaacctgtgccggaagTactacctgggtaaggcagat	12	8	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36236883T>C	uc002obi.1	+	2	256	c.52T>C	c.(52-54)TAC>CAC	p.Y18H	TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.Y18H|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	presenilin enhancer 2	18	Helical; (Potential).				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	aspartic-type endopeptidase activity|protein binding			ovary(2)	2	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCCGGAAGTACTACCTGGG	0.398													C	36236883	T	C	36236883	3	2	189	1	0	0	0	0	1	0	0	0	12652	1638	57	3	54	3	PSENEN	19	36236883	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	18432	36236883	22892100	4470	102327											
LIN37	55957	broad.mit.edu	37	chr19	36245365	36245365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctacgagagatgtacgAacgacagtgatgttcccagg	12	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36245365A>G	uc002obm.2	+	10	845	c.731A>G	c.(730-732)GAA>GGA	p.E244G	uc002obl.2_5'Flank	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog	244							protein binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGATGTACGAACGACAGTGA	0.577													G	36245365	A	G	36245365	3	3	189	1	0	0	0	0	1	0	0	0	8807	246	9	3	765	3	LIN37	19	36245365	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	8482	36245365	22883618	4471	102328											
NPHS1	4868	broad.mit.edu	37	chr19	36336323	36336323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgcggagctcggcgctgTgggcgcggcaggtcacgcgc	18	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36336323T>C	uc002oby.2	-	14	1877	c.1877A>G	c.(1876-1878)CAC>CGC	p.H626R		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	626	Ig-like C2-type 6.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)			CTCGGCGCTGTGGGCGCGGCA	0.647													C	36336323	T	C	36336323	3	2	189	1	0	0	0	0	1	0	0	0	10582	1696	59	3	1912	3	NPHS1	19	36336323	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	90958	36336323	22792660	4472	102329											
KIRREL2	84063	broad.mit.edu	37	chr19	36352822	36352822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgggcctgatctctgtgcTacacatttcggggacccagg	12	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36352822T>C	uc002ocb.3	+	11	1618	c.1406T>C	c.(1405-1407)CTA>CCA	p.L469P	KIRREL2_uc002obz.3_Missense_Mutation_p.L469P|KIRREL2_uc002oca.3_Missense_Mutation_p.L419P|KIRREL2_uc002occ.3_Missense_Mutation_p.L416P|KIRREL2_uc002ocd.3_Missense_Mutation_p.L466P	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	469	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)			ATCTCTGTGCTACACATTTCG	0.672													C	36352822	T	C	36352822	3	2	189	1	0	0	0	0	1	0	0	0	8325	1522	53	3	1448	3	KIRREL2	19	36352822	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	16499	36352822	22776161	4473	102330											
KIRREL2	84063	broad.mit.edu	37	chr19	36357201	36357201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctatgacttcaacccacAcctgggcatggtccccccct	6	18	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36357201A>G	uc002ocb.3	+	15	2146	c.1934A>G	c.(1933-1935)CAC>CGC	p.H645R	KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Missense_Mutation_p.H592R|KIRREL2_uc002ocd.3_Missense_Mutation_p.H607R|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	645	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)			TTCAACCCACACCTGGGCATG	0.622													G	36357201	A	G	36357201	3	3	189	1	0	0	0	0	1	0	0	0	8325	159	6	3	1992	3	KIRREL2	19	36357201	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4379	36357201	22771782	4474	102331											
CLIP3	25999	broad.mit.edu	37	chr19	36517143	36517143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggctgagccgtggttgAagtcactgcacgtggagttc	16	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36517143A>G	uc010eeq.1	-	5	869	c.587T>C	c.(586-588)TTC>TCC	p.F196S	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.F196S	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	196					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			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCGTGGTTGAAGTCACTGCA	0.657													G	36517143	A	G	36517143	3	3	189	1	0	0	0	0	1	0	0	0	3534	246	9	3	1092	3	CLIP3	19	36517143	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	159942	36517143	22611840	4475	102332											
WDR62	284403	broad.mit.edu	37	chr19	36595572	36595572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagccctcgacctttacCgtgtggtgagctaagcccca	10	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36595572C>T	uc002odc.2	+	31	4382	c.4291C>T	c.(4291-4293)CGT>TGT	p.R1431C	WDR62_uc002odd.2_Missense_Mutation_p.R1436C	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1431					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGACCTTTACCGTGTGGTGAG	0.617													T	36595572	C	T	36595572	3	4	189	1	0	0	0	0	1	0	0	0	17310	652	23	1	4428	1	WDR62	19	36595572	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	78429	36595572	22533411	4476	102333											
ZNF565	147929	broad.mit.edu	37	chr19	36673869	36673869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccttacactcgtagggTttctcaccagtgtggattcg	9	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36673869T>C	uc002odn.2	-	5	1107	c.999A>G	c.(997-999)AAA>AAG	p.K333K	ZNF565_uc010ees.2_Silent_p.K268K|ZNF565_uc002odo.2_Silent_p.K333K	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ACTCGTAGGGTTTCTCACCAG	0.483													C	36673869	T	C	36673869	2	2	189	1	0	0	0	0	0	0	0	1	17993	1722	60	3		3	ZNF565	19	36673869	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	78297	36673869	22455114	4477	102334											
ZFP14	57677	broad.mit.edu	37	chr19	36831647	36831647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtttctcaccagtatgaaTactctgatgaacagtaagtt	9	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:36831647T>C	uc002odx.1	-	4	1174	c.1081A>G	c.(1081-1083)ATT>GTT	p.I361V	ZFP14_uc010xtd.1_Missense_Mutation_p.I362V|ZFP14_uc010eex.1_Missense_Mutation_p.I361V	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					CCAGTATGAATACTCTGATGA	0.373													C	36831647	T	C	36831647	3	2	189	1	0	0	0	0	1	0	0	0	17636	1406	49	3	524	3	ZFP14	19	36831647	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	157778	36831647	22297336	4478	102335											
ZNF529	57711	broad.mit.edu	37	chr19	37038880	37038880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagttttttccaccagTatgtattttctgatattcat	4	7	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:37038880T>C	uc002oeh.3	-	5	782	c.580A>G	c.(580-582)ACT>GCT	p.T194A	ZNF529_uc010xth.1_Missense_Mutation_p.T194A|ZNF529_uc010xti.1_Missense_Mutation_p.T176A|ZNF529_uc002oeg.3_Missense_Mutation_p.T89A	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TTTCCACCAGTATGTATTTTC	0.363													C	37038880	T	C	37038880	3	2	189	1	0	0	0	0	1	0	0	0	17967	1638	57	3	1115	3	ZNF529	19	37038880	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	207233	37038880	22090103	4479	102336											
ZNF345	25850	broad.mit.edu	37	chr19	37368485	37368485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactcggcatcagagaatTcataccggtgagaaaccata	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:37368485T>G	uc002oex.2	+	3	1131	c.753T>G	c.(751-753)ATT>ATG	p.I251M	ZNF345_uc002oey.3_Missense_Mutation_p.I251M|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	251	C2H2-type 7.				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			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCAGAGAATTCATACCGGTG	0.428													G	37368485	T	G	37368485	3	3	189	1	0	0	0	0	1	0	0	0	17856	1771	62	5	755	5	ZNF345	19	37368485	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	329605	37368485	21760498	4480	102337											
ZNF829	374899	broad.mit.edu	37	chr19	37382950	37382950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgagcaatacttaaagGcttttccacattccttacat	6	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:37382950G>A	uc002ofa.1	-	6	1105	c.743C>T	c.(742-744)GCC>GTC	p.A248V	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	248	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACTTAAAGGCTTTTCCACA	0.363													A	37382950	G	A	37382950	3	1	189	1	0	0	0	0	1	0	0	0	18179	1203	42	2	559	2	ZNF829	19	37382950	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	14465	37382950	21746033	4481	102338											
ZNF420	147923	broad.mit.edu	37	chr19	37619822	37619822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catactggtgagaaaccataTcaatgtaaggaatgtgggaa	11	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:37619822T>C	uc002ofl.2	+	5	2144	c.1929T>C	c.(1927-1929)TAT>TAC	p.Y643Y		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	643	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACCATATCAATGTAAGG	0.403													C	37619822	T	C	37619822	2	2	189	1	0	0	0	0	0	0	0	1	17894	1442	50	3		3	ZNF420	19	37619822	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	236872	37619822	21509161	4482	102339											
ZNF527	84503	broad.mit.edu	37	chr19	37879579	37879579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcagtcataattgaatatAaaagactccatgctgagaag	7	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:37879579A>G	uc010efk.1	+	5	739	c.628A>G	c.(628-630)AAA>GAA	p.K210E	ZNF527_uc002ogf.3_Missense_Mutation_p.K178E|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTGAATATAAAAGACTCCA	0.333													G	37879579	A	G	37879579	3	3	189	1	0	0	0	0	1	0	0	0	17965	363	13	3	642	3	ZNF527	19	37879579	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	259757	37879579	21249404	4483	102340											
SIPA1L3	23094	broad.mit.edu	37	chr19	38579367	38579367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccttcttagaacatgCcaattacttcggcgtggatg	8	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:38579367C>T	uc002ohk.2	+	4	2050	c.1541C>T	c.(1540-1542)GCC>GTC	p.A514V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	514					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTAGAACATGCCAATTACTTC	0.597													T	38579367	C	T	38579367	3	4	189	1	0	0	0	0	1	0	0	0	14331	739	26	2	1547	2	SIPA1L3	19	38579367	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	699788	38579367	20549616	4484	102341											
C19orf33	64073	broad.mit.edu	37	chr19	38795555	38795557	+	In_Frame_Del	DEL	AGG	AGG	-													gaagcccaaagtgaagaagaAggagaagggcaagaaggaga					rs79297344		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:38795554_38795556AAGG>A	uc002ohu.1	+	3	369_371	c.271_273AAGG>A	c.(271-273)aag>A	p.K91del	YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_3'UTR	NM_033520	NP_277055	Q9GZP8	IMUP_HUMAN	Homo sapiens chromosome 19 open reading frame 33 (C19orf33), mRNA.	91						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGTgaagaagaaggagaagggca	0.596													-	38795557	AGG	-	38795555	7	5	189	1	0	1	0	1	0	0	0	0	1919	72	3	0	286	0	C19orf33	19	38795555	In_Frame_Del	DEL	AGG	TCGA-CG-5721-01A-11D-1600-08	216188	38795555	20333428	4485	102342											
KCNK6	9424	broad.mit.edu	37	chr19	38817452	38817452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgttgggggtcgtagTgaccgtctgctttctggtgc	16	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:38817452T>A	uc002oic.2	+	2	652	c.542T>A	c.(541-543)GTG>GAG	p.V181E	KCNK6_uc002oid.2_Missense_Mutation_p.V47E	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	181	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)	1	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGGGTCGTAGTGACCGTCTGC	0.627													A	38817452	T	A	38817452	3	1	189	1	0	0	0	0	1	0	0	0	8070	1696	59	5	548	5	KCNK6	19	38817452	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	21897	38817452	20311531	4486	102343											
RYR1	6261	broad.mit.edu	37	chr19	38948199	38948199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacgctccaaccaagaTcttattactgagaacttgct	7	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:38948199T>C	uc002oit.2	+	17	1984	c.1854T>C	c.(1852-1854)GAT>GAC	p.D618D	RYR1_uc002oiu.2_Silent_p.D618D	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	618	Cytoplasmic.|B30.2/SPRY 1.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCAACCAAGATCTTATTACTG	0.517													C	38948199	T	C	38948199	2	2	189	1	0	0	0	0	0	0	0	1	13768	1432	50	3		3	RYR1	19	38948199	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	130747	38948199	20180784	4487	102344											
RYR1	6261	broad.mit.edu	37	chr19	38993522	38993522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcattgtcccgcaggtAcatccgcccgtcgatgctgc	11	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:38993522A>G	uc002oit.2	+	49	7968	c.7838A>G	c.(7837-7839)TAC>TGC	p.Y2613C	RYR1_uc002oiu.2_Missense_Mutation_p.Y2613C|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2613	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCGCAGGTACATCCGCCCG	0.468													G	38993522	A	G	38993522	3	3	189	1	0	0	0	0	1	0	0	0	13768	391	14	3	8032	3	RYR1	19	38993522	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	45323	38993522	20135461	4488	102345											
SIRT2	22933	broad.mit.edu	37	chr19	39380364	39380364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagagttccttggcgagggCgaagaagggttccggatgtt	16	6	0	2	rs150309258	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:39380364C>T	uc002ojt.1	-	7	597	c.397G>A	c.(397-399)GCC>ACC	p.A133T	SIRT2_uc010egh.1_Missense_Mutation_p.A96T|SIRT2_uc010egi.1_Missense_Mutation_p.A96T|SIRT2_uc002ojs.1_Missense_Mutation_p.A113T|SIRT2_uc002oju.1_Missense_Mutation_p.A96T|SIRT2_uc010egj.1_Missense_Mutation_p.A96T|SIRT2_uc002ojv.1_Missense_Mutation_p.A131T	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	133	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TTGGCGAGGGCGAAGAAGGGT	0.602													T	39380364	C	T	39380364	3	4	189	1	0	0	0	0	1	0	0	0	14338	768	27	1	812	1	SIRT2	19	39380364	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	386842	39380364	19748619	4489	102346											
SARS2	54938	broad.mit.edu	37	chr19	39412061	39412061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgaccatgtggagcactCgagcctggctctcatccccg	10	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:39412061C>T	uc002oka.2	-	5	720	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	SARS2_uc002ojz.2_5'UTR|SARS2_uc010xup.1_Missense_Mutation_p.R189Q|SARS2_uc002okb.2_Missense_Mutation_p.R187Q|SARS2_uc010xuq.1_Missense_Mutation_p.R187Q|SARS2_uc010xur.1_RNA	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	187					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	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)			GTGGAGCACTCGAGCCTGGCT	0.692													T	39412061	C	T	39412061	3	4	189	1	0	0	0	0	1	0	0	0	13845	884	31	1	1044	1	SARS2	19	39412061	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	31697	39412061	19716922	4490	102347											
PAPL	390928	broad.mit.edu	37	chr19	39589225	39589225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcgtcccctttgtggaCgggggcattctccggcggaa	13	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:39589225C>T	uc002oki.2	+	3	523	c.249C>T	c.(247-249)GAC>GAT	p.D83D	PAPL_uc010egl.2_Silent_p.D83D	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	83						extracellular region	acid phosphatase activity|metal ion binding				0						CCTTTGTGGACGGGGGCATTC	0.652													T	39589225	C	T	39589225	2	4	189	1	0	0	0	0	0	0	0	1	11427	535	19	1		1	PAPL	19	39589225	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	177164	39589225	19539758	4491	102348											
PAF1	54623	broad.mit.edu	37	chr19	39879431	39879431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagacatcatctccaaCgcagctgcaccactcgtgtc	8	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:39879431C>T	uc002old.2	-	9	886	c.711G>A	c.(709-711)GCG>GCA	p.A237A	PAF1_uc002ole.1_Silent_p.A227A|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	237					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	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)			TCATCTCCAACGCAGCTGCAC	0.547													T	39879431	C	T	39879431	2	4	189	1	0	0	0	0	0	0	0	1	11383	523	19	1		1	PAF1	19	39879431	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	290206	39879431	19249552	4492	102349											
MAP3K10	4294	broad.mit.edu	37	chr19	40698259	40698259	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagatcatcggtgtgggGggctttggcaaggtctatcg	18	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:40698259G>T	uc002ona.2	+	1	609	c.321G>T	c.(319-321)GGG>GGT	p.G107G		NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	107	Protein kinase.|ATP (By similarity).		G -> E (in a metastatic melanoma sample; somatic mutation).		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	p.G107E(1)		ovary(2)|lung(2)|skin(1)|pancreas(1)	6						TCGGTGTGGGGGGCTTTGGCA	0.701													T	40698259	G	T	40698259	2	4	189	1	0	0	0	0	0	0	0	1	9244	1219	43	5		5	MAP3K10	19	40698259	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	818828	40698259	18430724	4493	102350											
MAP3K10	4294	broad.mit.edu	37	chr19	40712065	40712065	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatcagcctgccctctgGtacccacccgtgtccccaga	7	20	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:40712065G>A	uc002ona.2	+	5	1723	c.1435_splice	c.e5+1	p.G479_splice	MAP3K10_uc002onb.2_Intron	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase						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			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						CTGCCCTCTGGTACCCACCCG	0.607													A	40712065	G	A	40712065	5	1	189	1	0	0	0	0	0	0	1	0	9244	1275	44	4	1454	4	MAP3K10	19	40712065	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	13806	40712065	18416918	4494	102351											
MAP3K10	4294	broad.mit.edu	37	chr19	40721046	40721046	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctggaaactggtctccttCggccggacactcaccatctc	8	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:40721046C>T	uc002ona.2	+	10	3000	c.2712C>T	c.(2710-2712)TTC>TTT	p.F904F	MAP3K10_uc002onb.2_Silent_p.F293F	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	904					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			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						TGGTCTCCTTCGGCCGGACAC	0.697													T	40721046	C	T	40721046	2	4	189	1	0	0	0	0	0	0	0	1	9244	883	31	1		1	MAP3K10	19	40721046	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	8981	40721046	18407937	4495	102352											
SPTBN4	57731	broad.mit.edu	37	chr19	41003397	41003397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtgcccctgcccaggCctgatctcgtggacttcagc	11	16	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41003397C>T	uc002ony.2	+	7	756	c.670C>T	c.(670-672)CCT>TCT	p.P224S	SPTBN4_uc002onx.2_Missense_Mutation_p.P224S|SPTBN4_uc002onz.2_Missense_Mutation_p.P224S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	224	Actin-binding.|CH 2.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCCCAGGCCTGATCTCGT	0.637													T	41003397	C	T	41003397	3	4	189	1	0	0	0	0	1	0	0	0	15120	753	26	2	692	2	SPTBN4	19	41003397	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	282351	41003397	18125586	4496	102353											
SPTBN4	57731	broad.mit.edu	37	chr19	41009954	41009954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgggcttgtgggtgcccGgcggacacgacttgagcaga	16	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41009954G>A	uc002ony.2	+	12	1666	c.1580G>A	c.(1579-1581)CGG>CAG	p.R527Q	SPTBN4_uc002onx.2_Missense_Mutation_p.R527Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R527Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	527	Spectrin 3.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGGTGCCCGGCGGACACGA	0.647													A	41009954	G	A	41009954	3	1	189	1	0	0	0	0	1	0	0	0	15120	1116	39	1	1622	1	SPTBN4	19	41009954	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6557	41009954	18119029	4497	102354											
LTBP4	8425	broad.mit.edu	37	chr19	41125264	41125264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacagatgtgaacgagtGtgaaacactacagggtgtat	12	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41125264G>A	uc002ooh.1	+	26	3284	c.3284G>A	c.(3283-3285)TGT>TAT	p.C1095Y	LTBP4_uc002oog.1_Missense_Mutation_p.C1058Y|LTBP4_uc002ooi.1_Missense_Mutation_p.C1028Y|LTBP4_uc002ooj.1_Translation_Start_Site|LTBP4_uc002ook.1_Missense_Mutation_p.C229Y|LTBP4_uc002ool.1_Missense_Mutation_p.C107Y|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_Translation_Start_Site	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1095	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)			GTGAACGAGTGTGAAACACTA	0.493													A	41125264	G	A	41125264	3	1	189	1	0	0	0	0	1	0	0	0	9076	1377	48	4	3674	4	LTBP4	19	41125264	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	115310	41125264	18003719	4498	102355											
LTBP4	8425	broad.mit.edu	37	chr19	41125313	41125313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgtgaaaatgtcgaAggctccttcctctgtgtctg	11	11	2	1	rs35731433		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41125313A>G	uc002ooh.1	+	26	3333	c.3333A>G	c.(3331-3333)GAA>GAG	p.E1111E	LTBP4_uc002oog.1_Silent_p.E1074E|LTBP4_uc002ooi.1_Silent_p.E1044E|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Silent_p.E245E|LTBP4_uc002ool.1_Silent_p.E123E|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1111	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)			AAAATGTCGAAGGCTCCTTCC	0.542													G	41125313	A	G	41125313	2	3	189	1	0	0	0	0	0	0	0	1	9076	69	3	3		3	LTBP4	19	41125313	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	49	41125313	18003670	4499	102356											
LTBP4	8425	broad.mit.edu	37	chr19	41135314	41135314	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagacatcaacgagtgTgatgaggccgaggctgcctc	13	12	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41135314T>C	uc002ooh.1	+	34	4734	c.4734T>C	c.(4732-4734)TGT>TGC	p.C1578C	LTBP4_uc002oog.1_Silent_p.C1541C|LTBP4_uc002ooi.1_Silent_p.C1511C|LTBP4_uc002ooj.1_Silent_p.C451C|LTBP4_uc002ool.1_Silent_p.C590C|LTBP4_uc010xvp.1_Silent_p.C338C	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1578	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)			TCAACGAGTGTGATGAGGCCG	0.627													C	41135314	T	C	41135314	2	2	189	1	0	0	0	0	0	0	0	1	9076	1702	59	3		3	LTBP4	19	41135314	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10001	41135314	17993669	4500	102357											
CYP2A6	1548	broad.mit.edu	37	chr19	41354549	41354549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggagggcgtcgatgaggaAgcccgcctcctcctggatgc	15	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41354549A>G	uc002opl.3	-	3	484	c.463T>C	c.(463-465)TTC>CTC	p.F155L	CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	155					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TCGATGAGGAAGCCCGCCTCC	0.706													G	41354549	A	G	41354549	3	3	189	1	0	0	0	0	1	0	0	0	4162	72	3	3	1049	3	CYP2A6	19	41354549	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	219235	41354549	17774434	4501	102358											
CYP2A7	1549	broad.mit.edu	37	chr19	41386114	41386114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgacattggagactgTgcggctcaggaagaaggtgg	17	6	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41386114T>C	uc002opm.2	-	4	1071	c.529A>G	c.(529-531)ACA>GCA	p.T177A	CYP2A7_uc002opo.2_Missense_Mutation_p.T177A|CYP2A7_uc002opn.2_Missense_Mutation_p.T126A	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	177						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTGGAGACTGTGCGGCTCAGG	0.532													C	41386114	T	C	41386114	3	2	189	1	0	0	0	0	1	0	0	0	4163	1696	59	3	979	3	CYP2A7	19	41386114	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	31565	41386114	17742869	4502	102359											
AXL	558	broad.mit.edu	37	chr19	41744382	41744382	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtcctccagtgcccctGggcccccctgagaacattag	9	18	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:41744382G>T	uc010ehj.2	+	8	1192	c.1002G>T	c.(1000-1002)CTG>CTT	p.L334L	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.L334L|AXL_uc010ehk.2_Silent_p.L334L	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	334	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CAGTGCCCCTGGGCCCCCCTG	0.662													T	41744382	G	T	41744382	2	4	189	1	0	0	0	0	0	0	0	1	1238	1335	47	5		5	AXL	19	41744382	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	358268	41744382	17384601	4503	102360											
CEACAM7	1087	broad.mit.edu	37	chr19	42191122	42191122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatattggtctgggcactgTttggcaggttccagaaggtt	13	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42191122T>C	uc002ori.1	-	2	97	c.95A>G	c.(94-96)AAC>AGC	p.N32S	CEACAM7_uc010ehx.2_Missense_Mutation_p.N32S|CEACAM7_uc010ehy.1_Missense_Mutation_p.N32S	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	32						anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTGGGCACTGTTTGGCAGGTT	0.493													C	42191122	T	C	42191122	3	2	189	1	0	0	0	0	1	0	0	0	3197	1725	60	3	714	3	CEACAM7	19	42191122	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	446740	42191122	16937861	4504	102361											
CEACAM3	1084	broad.mit.edu	37	chr19	42301579	42301579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcactattgaatccatGccgctcagtgtcgcagaggg	11	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42301579G>A	uc002orn.1	+	2	199	c.123G>A	c.(121-123)ATG>ATA	p.M41I	CEACAM3_uc010eia.1_Missense_Mutation_p.M41I|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	41	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						TTGAATCCATGCCGCTCAGTG	0.512													A	42301579	G	A	42301579	3	1	189	1	0	0	0	0	1	0	0	0	3193	1319	46	2	129	2	CEACAM3	19	42301579	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	110457	42301579	16827404	4505	102362											
CD79A	973	broad.mit.edu	37	chr19	42383168	42383168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatagcagcaacaacgccaAcgtcacctggtggcgcgtcc	10	15	1	0	rs151224661	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42383168A>G	uc002orv.2	+	2	373	c.188A>G	c.(187-189)AAC>AGC	p.N63S	CD79A_uc002oru.2_Missense_Mutation_p.N63S	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	63	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						AACAACGCCAACGTCACCTGG	0.607			O|S		DLBCL								G	42383168	A	G	42383168	3	3	189	1	0	0	0	0	1	0	0	0	3036	43	2	3	194	3	CD79A	19	42383168	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	81589	42383168	16745815	4506	102363											
RABAC1	10567	broad.mit.edu	37	chr19	42463428	42463428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcatctttctgctggTccttctgcgctgccatgtct	9	15	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42463428T>C	uc002osf.2	-	1	101	c.17A>G	c.(16-18)GAC>GGC	p.D6G		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Rab acceptor 1	6	Cytoplasmic (By similarity).					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding				0						TTTCTGCTGGTCCTTCTGCGC	0.582													C	42463428	T	C	42463428	3	2	189	1	0	0	0	0	1	0	0	0	12960	1667	58	3	560	3	RABAC1	19	42463428	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	80260	42463428	16665555	4507	102364											
ATP1A3	478	broad.mit.edu	37	chr19	42474390	42474390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaccaatttgtccgtcCgcgggttcctgggctgtctc	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42474390C>T	uc002osg.2	-	18	2643	c.2489G>A	c.(2488-2490)CGG>CAG	p.R830Q	ATP1A3_uc010xwf.1_Missense_Mutation_p.R841Q|ATP1A3_uc010xwg.1_Missense_Mutation_p.R800Q|ATP1A3_uc010xwh.1_Missense_Mutation_p.R843Q|ATP1A3_uc002osh.2_Missense_Mutation_p.R830Q	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	830	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TTTGTCCGTCCGCGGGTTCCT	0.617													T	42474390	C	T	42474390	3	4	189	1	0	0	0	0	1	0	0	0	1130	652	23	1	576	1	ATP1A3	19	42474390	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10962	42474390	16654593	4508	102365											
ATP1A3	478	broad.mit.edu	37	chr19	42480695	42480695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccttgaggtcggtgccgTggatcacgcaggccttggca	15	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42480695T>C	uc002osg.2	-	15	2121	c.1967A>G	c.(1966-1968)CAC>CGC	p.H656R	ATP1A3_uc010xwf.1_Missense_Mutation_p.H667R|ATP1A3_uc010xwg.1_Missense_Mutation_p.H626R|ATP1A3_uc010xwh.1_Missense_Mutation_p.H669R|ATP1A3_uc002osh.2_Missense_Mutation_p.H656R	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	656	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GTCGGTGCCGTGGATCACGCA	0.582													C	42480695	T	C	42480695	3	2	189	1	0	0	0	0	1	0	0	0	1130	1696	59	3	1110	3	ATP1A3	19	42480695	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	6305	42480695	16648288	4509	102366											
GRIK5	2901	broad.mit.edu	37	chr19	42507556	42507556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaagacagcaatgatgagGccacagatgagcacgataaa	11	8	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42507556G>A	uc002osj.1	-	18	2477	c.2442C>T	c.(2440-2442)GGC>GGT	p.G814G	GRIK5_uc002osi.1_Silent_p.G386G	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	814	Helical; (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CAATGATGAGGCCACAGATGA	0.582													A	42507556	G	A	42507556	2	1	189	1	0	0	0	0	0	0	0	1	6777	1190	42	2		2	GRIK5	19	42507556	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	26861	42507556	16621427	4510	102367											
ZNF574	64763	broad.mit.edu	37	chr19	42583295	42583295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggcccgagtggctgtGgagcactcataccgaaaggc	15	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42583295G>A	uc002osm.3	+	2	706	c.537G>A	c.(535-537)GTG>GTA	p.V179V	ZNF574_uc002osk.3_Silent_p.V269V	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GAGTGGCTGTGGAGCACTCAT	0.652													A	42583295	G	A	42583295	2	1	189	1	0	0	0	0	0	0	0	1	18003	1335	47	4		4	ZNF574	19	42583295	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	75739	42583295	16545688	4511	102368											
ZNF526	116115	broad.mit.edu	37	chr19	42729973	42729973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctgaacggcgtcaccGctgtggggtttgtggcaagg	16	12	1	1	rs149858475		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42729973G>A	uc002osz.1	+	3	1574	c.1418G>A	c.(1417-1419)CGC>CAC	p.R473H		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	473	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				CGGCGTCACCGCTGTGGGGTT	0.657													A	42729973	G	A	42729973	3	1	189	1	0	0	0	0	1	0	0	0	17964	1087	38	1	1420	1	ZNF526	19	42729973	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	146678	42729973	16399010	4512	102369											
ERF	2077	broad.mit.edu	37	chr19	42753338	42753338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtaccgtttcatgTcctcagggctgaaggagaag	13	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42753338T>C	uc002ote.3	-	4	1084	c.926A>G	c.(925-927)GAC>GGC	p.D309G	ERF_uc002otd.3_Missense_Mutation_p.D40G	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	309					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			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CCGTTTCATGTCCTCAGGGCT	0.677													C	42753338	T	C	42753338	3	2	189	1	0	0	0	0	1	0	0	0	5221	1667	58	3	724	3	ERF	19	42753338	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	23365	42753338	16375645	4513	102370											
CIC	23152	broad.mit.edu	37	chr19	42791321	42791321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtccgcctcccaccacGgaggaggaggcctccggccc	14	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42791321G>A	uc002otf.1	+	3	421	c.381G>A	c.(379-381)ACG>ACA	p.T127T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	127	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CTCCCACCACGGAGGAGGAGG	0.677			T	DUX4	soft tissue sarcoma								A	42791321	G	A	42791321	2	1	189	1	0	0	0	0	0	0	0	1	3424	1103	39	1		1	CIC	19	42791321	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	37983	42791321	16337662	4514	102371											
CIC	23152	broad.mit.edu	37	chr19	42795161	42795161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccacacttggtggctggAcccctgctgggcactgtggg	15	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42795161A>G	uc002otf.1	+	10	2281	c.2241A>G	c.(2239-2241)GGA>GGG	p.G747G		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	747	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				TGGTGGCTGGACCCCTGCTGG	0.667			T	DUX4	soft tissue sarcoma								G	42795161	A	G	42795161	2	3	189	1	0	0	0	0	0	0	0	1	3424	262	10	3		3	CIC	19	42795161	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3840	42795161	16333822	4515	102372											
LIPE	3991	broad.mit.edu	37	chr19	42911584	42911584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccaggctccgttggcCgttggactttatcaggctgc	12	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:42911584C>T	uc002otr.2	-	6	2156	c.1879G>A	c.(1879-1881)GGC>AGC	p.G627S	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	627					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CTCCGTTGGCCGTTGGACTTT	0.672													T	42911584	C	T	42911584	3	4	189	1	0	0	0	0	1	0	0	0	8821	652	23	1	1371	1	LIPE	19	42911584	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	116423	42911584	16217399	4516	102373											
CEACAM1	634	broad.mit.edu	37	chr19	43023277	43023277	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgaagaaccaacggaTggagattccagtgtcatttg	11	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:43023277T>G	uc002otv.2	-	5	1182	c.1069A>C	c.(1069-1071)ATC>CTC	p.I357L	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Missense_Mutation_p.I357L|CEACAM1_uc010eij.2_Missense_Mutation_p.I357L|CEACAM1_uc002otx.2_Intron|CEACAM1_uc002oty.2_Intron|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.I357L|CEACAM1_uc002oub.2_Intron	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	357	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AACCAACGGATGGAGATTCCA	0.517													G	43023277	T	G	43023277	3	3	189	1	0	0	0	0	1	0	0	0	3187	1464	51	5	628	5	CEACAM1	19	43023277	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	111693	43023277	16105706	4517	102374											
LYPD5	284348	broad.mit.edu	37	chr19	44301943	44301943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtggtgcaggagggccGgtggcaggttctgatgtaca	18	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:44301943G>A	uc002oxm.3	-	5	637	c.556C>T	c.(556-558)CGG>TGG	p.R186W	LYPD5_uc002oxn.3_Missense_Mutation_p.R143W	NM_001031749	NP_001026919	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5 isoform A	186	UPAR/Ly6.					anchored to membrane|plasma membrane					0		Prostate(69;0.0352)				CAGGAGGGCCGGTGGCAGGTT	0.602													A	44301943	G	A	44301943	3	1	189	1	0	0	0	0	1	0	0	0	9113	1115	39	1	203	1	LYPD5	19	44301943	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1278666	44301943	14827040	4518	102375											
ZNF45	7596	broad.mit.edu	37	chr19	44418119	44418119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtgtggattctacagTgtacattaagatctgagctc	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:44418119T>C	uc002oxu.1	-	4	1568	c.1469A>G	c.(1468-1470)CAC>CGC	p.H490R	ZNF45_uc002oxw.1_Missense_Mutation_p.H490R|ZNF45_uc002oxv.1_Missense_Mutation_p.H490R	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	490	C2H2-type 12.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GATTCTACAGTGTACATTAAG	0.483													C	44418119	T	C	44418119	3	2	189	1	0	0	0	0	1	0	0	0	17918	1696	59	3	583	3	ZNF45	19	44418119	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	116176	44418119	14710864	4519	102376											
ZNF230	7773	broad.mit.edu	37	chr19	44514742	44514742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttacatctcagctcttcGtattcaccagagagttcact	6	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:44514742G>A	uc002oyb.1	+	5	802	c.551G>A	c.(550-552)CGT>CAT	p.R184H		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	184	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TCAGCTCTTCGTATTCACCAG	0.453													A	44514742	G	A	44514742	3	1	189	1	0	0	0	0	1	0	0	0	17781	1145	40	1	565	1	ZNF230	19	44514742	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	96623	44514742	14614241	4520	102377											
ZNF223	7766	broad.mit.edu	37	chr19	44571253	44571253	+	Frame_Shift_Del	DEL	A	A	-													cataagagactccattgccgAaaaaaaccattcaaatgtga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:44571252_44571252GA>G	uc002oyf.1	+	4	1524	c.1271_1271GA>G	c.(1270-1272)cgafs	p.R424fs	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	424					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)				CTCCATTGCCGAAAAAAACCA	0.413													-	44571253	A	-	44571253	7	5	189	1	0	1	0	1	0	0	0	0	17774	233	9	0	1286	0	ZNF223	19	44571253	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	56511	44571253	14557730	4521	102378											
ZNF225	7768	broad.mit.edu	37	chr19	44635769	44635769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagcacttaatagtcaTcgcatggtccacacaggaga	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:44635769T>C	uc002oyj.1	+	5	1245	c.1002T>C	c.(1000-1002)CAT>CAC	p.H334H	ZNF225_uc010eje.1_Silent_p.H251H|ZNF225_uc010ejf.1_Silent_p.H334H	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	334	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				TTAATAGTCATCGCATGGTCC	0.408													C	44635769	T	C	44635769	2	2	189	1	0	0	0	0	0	0	0	1	17776	1432	50	3		3	ZNF225	19	44635769	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	64516	44635769	14493214	4522	102379											
ZNF180	7733	broad.mit.edu	37	chr19	44980768	44980768	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaataagtcgagcactcaAgctaaatgtttttccacact	5	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:44980768A>G	uc002ozf.3	-	5	2212	c.1930T>C	c.(1930-1932)TTG>CTG	p.L644L	ZNF180_uc002ozh.3_Silent_p.L301L|ZNF180_uc002ozi.3_Silent_p.L617L|ZNF180_uc002ozg.3_Silent_p.L643L|ZNF180_uc010ejm.2_Silent_p.L619L	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	644	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				CGAGCACTCAAGCTAAATGTT	0.373													G	44980768	A	G	44980768	2	3	189	1	0	0	0	0	0	0	0	1	17745	69	3	3		3	ZNF180	19	44980768	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	344999	44980768	14148215	4523	102380											
BCL3	602	broad.mit.edu	37	chr19	45254502	45254502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagccttactgcctttgtAccccactcgggccatgggct	11	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:45254502A>G	uc010xxe.1	+	2	345	c.275A>G	c.(274-276)TAC>TGC	p.Y92C		NM_005178	NP_005169	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	92	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			ovary(1)|lung(1)	2	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTGCCTTTGTACCCCACTCGG	0.582			T	IGH@	CLL 								G	45254502	A	G	45254502	3	3	189	1	0	0	0	0	1	0	0	0	1375	391	14	3	281	3	BCL3	19	45254502	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	273734	45254502	13874481	4524	102381											
BCAM	4059	broad.mit.edu	37	chr19	45315633	45315633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgctgaggccactgcgCggctcaacgtgtttggtaag	14	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:45315633C>T	uc002ozu.2	+	3	462	c.418C>T	c.(418-420)CGG>TGG	p.R140W	BCAM_uc002ozt.1_Missense_Mutation_p.R140W	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	140	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGCCACTGCGCGGCTCAACGT	0.682													T	45315633	C	T	45315633	3	4	189	1	0	0	0	0	1	0	0	0	1344	759	27	1	428	1	BCAM	19	45315633	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	61131	45315633	13813350	4525	102382											
ERCC2	2068	broad.mit.edu	37	chr19	45867349	45867349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgccggtactcgtcccGcaggcgctgctcgtctgtct	12	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:45867349G>A	uc002pbj.2	-	10	891	c.844C>T	c.(844-846)CGG>TGG	p.R282W	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.R204W|ERCC2_uc002pbk.2_Missense_Mutation_p.R258W|ERCC2_uc002pbl.3_Missense_Mutation_p.R258W|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	282	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			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TACTCGTCCCGCAGGCGCTGC	0.706			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	45867349	G	A	45867349	3	1	189	1	0	0	0	0	1	0	0	0	5213	1086	38	1	1551	1	ERCC2	19	45867349	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	551716	45867349	13261634	4526	102383											
CD3EAP	10849	broad.mit.edu	37	chr19	45911617	45911617	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtcagggagccctctgCagcccatcccagcaagtccc	9	19	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:45911617C>T	uc002pbq.1	+	3	879	c.391C>T	c.(391-393)CAG>TAG	p.Q131*	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Nonsense_Mutation_p.Q133*	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	131					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GAGCCCTCTGCAGCCCATCCC	0.652													T	45911617	C	T	45911617	4	4	189	1	0	0	0	0	0	1	0	0	3012	711	25	2	401	2	CD3EAP	19	45911617	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	44268	45911617	13217366	4527	102384											
RTN2	6253	broad.mit.edu	37	chr19	45997462	45997462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaattctaattggtccGtgctatcgaggcactgtccc	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:45997462G>A	uc002pcb.2	-	4	1004	c.776C>T	c.(775-777)ACG>ATG	p.T259M	RTN2_uc002pcc.2_Missense_Mutation_p.T259M|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	259						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TAATTGGTCCGTGCTATCGAG	0.537													A	45997462	G	A	45997462	3	1	189	1	0	0	0	0	1	0	0	0	13726	1145	40	1	893	1	RTN2	19	45997462	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	85845	45997462	13131521	4528	102385											
SYMPK	8189	broad.mit.edu	37	chr19	46357726	46357726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccacgctccgacgggTgacgctgtctccactgccgc	12	16	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:46357726T>C	uc002pdn.2	-	2	273	c.28A>G	c.(28-30)ACC>GCC	p.T10A	SYMPK_uc002pdo.1_Missense_Mutation_p.T10A|SYMPK_uc002pdp.1_Missense_Mutation_p.T10A|SYMPK_uc002pdq.1_Missense_Mutation_p.T10A	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	10	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCCGACGGGTGACGCTGTCT	0.622													C	46357726	T	C	46357726	3	2	189	1	0	0	0	0	1	0	0	0	15436	1696	59	3	3900	3	SYMPK	19	46357726	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	360264	46357726	12771257	4529	102386											
PPP5C	5536	broad.mit.edu	37	chr19	46850393	46850393	+	Frame_Shift_Del	DEL	C	C	-													agaggactgagtgtgctgagCccccccgggacgaacccccg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:46850393delC	uc002pem.2	+	1	100	c.40delC	c.(40-42)CCCfs	p.P14fs	PPP5C_uc010xya.1_5'UTR|PPP5C_uc002pen.2_Frame_Shift_Del_p.P14fs	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	14					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			lung(1)|pancreas(1)	2		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)		GTGTGCTGAGCCCCCCCGGGA	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	46850393	C	-	46850393	7	5	189	1	0	1	0	1	0	0	0	0	12406	739	26	0	42	0	PPP5C	19	46850393	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	492667	46850393	12278590	4530	102387											
CCDC8	83987	broad.mit.edu	37	chr19	46914891	46914891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcagctggggcctccgCcctctgattatctgcagcct	11	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:46914891C>T	uc002pep.2	-	1	2029	c.1177G>A	c.(1177-1179)GCG>ACG	p.A393T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	393						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGGGCCTCCGCCCTCTGATTA	0.587													T	46914891	C	T	46914891	3	4	189	1	0	0	0	0	1	0	0	0	2853	739	26	2	443	2	CCDC8	19	46914891	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	64498	46914891	12214092	4531	102388											
AP2S1	1175	broad.mit.edu	37	chr19	47342048	47342048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacattgtggaaatattcGtttaagacctgggagaggaa	12	5	0	3	rs143384246		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:47342048G>A	uc002pft.1	-	4	456	c.276C>T	c.(274-276)AAC>AAT	p.N92N	AP2S1_uc002pfu.1_Silent_p.N54N	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	92					axon guidance|clathrin coat assembly|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|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GGAAATATTCGTTTAAGACCT	0.443													A	47342048	G	A	47342048	2	1	189	1	0	0	0	0	0	0	0	1	743	1136	40	1		1	AP2S1	19	47342048	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	427157	47342048	11786935	4532	102389											
KPTN	11133	broad.mit.edu	37	chr19	47987271	47987271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtagcggaagccgagcacCttgcctttaagggtggcggc	16	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:47987271C>T	uc002pgy.2	-	1	251	c.147G>A	c.(145-147)AAG>AAA	p.K49K	KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	49					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			ovary(1)	1		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)		AGCCGAGCACCTTGCCTTTAA	0.537											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47987271	C	T	47987271	2	4	189	1	0	0	0	0	0	0	0	1	8437	680	24	4		4	KPTN	19	47987271	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	645223	47987271	11141712	4533	102390											
EHD2	30846	broad.mit.edu	37	chr19	48244287	48244288	+	Frame_Shift_Ins	INS	-	-	G													gcaccgaggtgggcgtgcagINSgggggcgcttttgagggcac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:48244286_48244287A>AG	uc002phj.4	+	5	1479_1480	c.1229_1230A>AG	c.(1228-1230)cagfs	p.Q410fs	EHD2_uc010xyu.2_Frame_Shift_Ins_p.Q274fs	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	410					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|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)		GTGGGCGTGCAGGGGGGCGCTT	0.673													G	48244288	-	G	48244287	7	5	189	1	0	1	1	0	0	0	0	0	4978	991	35	0	1248	0	EHD2	19	48244287	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	257016	48244287	10884696	4534	102391											
LIG1	3978	broad.mit.edu	37	chr19	48631219	48631219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggatctgcttcttttccCggtcccaagccacggcttcg	10	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:48631219C>T	uc002pia.1	-	20	2000	c.1880G>A	c.(1879-1881)CGG>CAG	p.R627Q	LIG1_uc010xze.1_Missense_Mutation_p.R320Q|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R559Q|LIG1_uc010xzg.1_Missense_Mutation_p.R596Q	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	627					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			large_intestine(2)|lung(1)	3		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)	CTTCTTTTCCCGGTCCCAAGC	0.572								NER					T	48631219	C	T	48631219	3	4	189	1	0	0	0	0	1	0	0	0	8781	652	23	1	915	1	LIG1	19	48631219	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	386932	48631219	10497764	4535	102392											
GRIN2D	2906	broad.mit.edu	37	chr19	48918135	48918135	+	Frame_Shift_Del	DEL	C	C	-													ccgcagccctccaccggatgCcccccgcccggaaaagcgct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:48918134_48918134GC>G	uc002pjc.4	+	5	1514	c.1426_1426GC>G	c.(1426-1428)gccfs	p.A476fs		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	476						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)	TCCACCGGATGCCCCCCGCCC	0.607													-	48918135	C	-	48918135	7	5	189	1	0	1	0	1	0	0	0	0	6782	739	26	0	1445	0	GRIN2D	19	48918135	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	286916	48918135	10210848	4536	102393											
LMTK3	114783	broad.mit.edu	37	chr19	49012191	49012191	+	Frame_Shift_Del	DEL	G	G	-													tccttcaccaccacctgggcGggggtgtagtcggagaaaat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49012190_49012190CG>C	uc002pjk.3	-	5	562	c.562_562CG>G	c.(562-564)gccfs	p.A188fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ACCACCTGGGCGGGGGTGTAG	0.642													-	49012191	G	-	49012191	7	5	189	1	0	1	0	1	0	0	0	0	8860	1103	39	0	3952	0	LMTK3	19	49012191	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	94056	49012191	10116792	4537	102394											
FAM83E	54854	broad.mit.edu	37	chr19	49113254	49113254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacgacacggacatccaCgttctgttggtgtggggagt	14	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49113254C>T	uc002pjn.2	-	3	702	c.637G>A	c.(637-639)GTG>ATG	p.V213M		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	213										ovary(1)	1		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)		CGGACATCCACGTTCTGTTGG	0.637													T	49113254	C	T	49113254	3	4	189	1	0	0	0	0	1	0	0	0	5637	536	19	1	811	1	FAM83E	19	49113254	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	101063	49113254	10015729	4538	102395											
RPL18	6141	broad.mit.edu	37	chr19	49119424	49119424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgccctgaggatgcgGctgcgggcccggctggtcac	15	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49119424G>A	uc002pjq.1	-	5	366	c.333C>T	c.(331-333)AGC>AGT	p.S111S	FAM83E_uc002pjn.2_5'Flank|RPL18_uc002pjp.1_Silent_p.S59S|RPL18_uc010xzs.1_3'UTR	NM_000979	NP_000970	Q07020	RL18_HUMAN	ribosomal protein L18	111					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TGAGGATGCGGCTGCGGGCCC	0.667													A	49119424	G	A	49119424	2	1	189	1	0	0	0	0	0	0	0	1	13564	1194	42	2		2	RPL18	19	49119424	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6170	49119424	10009559	4539	102396											
TRPM4	54795	broad.mit.edu	37	chr19	49671550	49671550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggggtctgcacacggGcatcggccggcatgttggtg	17	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49671550G>A	uc002pmw.2	+	5	554	c.482G>A	c.(481-483)GGC>GAC	p.G161D	TRPM4_uc010emu.2_Missense_Mutation_p.G161D|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Intron|TRPM4_uc010yal.1_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	161	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		CTGCACACGGGCATCGGCCGG	0.612													A	49671550	G	A	49671550	3	1	189	1	0	0	0	0	1	0	0	0	16585	1203	42	2	500	2	TRPM4	19	49671550	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	552126	49671550	9457433	4540	102397											
TEAD2	8463	broad.mit.edu	37	chr19	49850573	49850573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgagcggcggcgctccGgggctggggcagtgctggct	19	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49850573G>A	uc002pnj.2	-	9	874	c.783C>T	c.(781-783)CCC>CCT	p.P261P	TEAD2_uc002png.2_Silent_p.P264P|TEAD2_uc002pnh.2_Silent_p.P265P|TEAD2_uc002pni.2_Silent_p.P264P|TEAD2_uc010yao.1_Silent_p.P133P|TEAD2_uc010emw.2_Silent_p.P264P	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	261	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		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)		GCGGCGCTCCGGGGCTGGGGC	0.632													A	49850573	G	A	49850573	2	1	189	1	0	0	0	0	0	0	0	1	15736	1103	39	1		1	TEAD2	19	49850573	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	179023	49850573	9278410	4541	102398											
DKKL1	27120	broad.mit.edu	37	chr19	49868877	49868877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaccagctggggaacaacAccctctccagccacctccag	8	18	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49868877A>G	uc002pnk.2	+	3	509	c.295A>G	c.(295-297)ACC>GCC	p.T99A		NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	99					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity				0		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)		GGGGAACAACACCCTCTCCAG	0.607													G	49868877	A	G	49868877	3	3	189	1	0	0	0	0	1	0	0	0	4548	159	6	3	305	3	DKKL1	19	49868877	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	18304	49868877	9260106	4542	102399											
SLC17A7	57030	broad.mit.edu	37	chr19	49934038	49934038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagtgcaccagggaggcaAttaggaacacgtactgccac	11	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49934038A>G	uc002pnp.2	-	12	1593	c.1421T>C	c.(1420-1422)ATT>ACT	p.I474T	SLC17A7_uc002pno.2_Missense_Mutation_p.I136T	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	474	Helical; (Potential).				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			ovary(1)|pancreas(1)|skin(1)	3		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)		CAGGGAGGCAATTAGGAACAC	0.582													G	49934038	A	G	49934038	3	3	189	1	0	0	0	0	1	0	0	0	14422	101	4	3	265	3	SLC17A7	19	49934038	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	65161	49934038	9194945	4543	102400											
ALDH16A1	126133	broad.mit.edu	37	chr19	49973652	49973652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcctgggaccaggaggcCgagggggcaggcccagagct	20	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:49973652C>T	uc002pnt.2	+	17	2453	c.2337C>T	c.(2335-2337)GCC>GCT	p.A779A	ALDH16A1_uc010yar.1_Silent_p.A728A|ALDH16A1_uc010yas.1_Silent_p.A614A|ALDH16A1_uc010yat.1_Silent_p.A616A	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	779							oxidoreductase activity|protein binding			skin(1)	1		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)		ACCAGGAGGCCGAGGGGGCAG	0.692													T	49973652	C	T	49973652	2	4	189	1	0	0	0	0	0	0	0	1	488	639	23	1		1	ALDH16A1	19	49973652	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	39614	49973652	9155331	4544	102401											
MED25	81857	broad.mit.edu	37	chr19	50333092	50333092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaagctgcctgcgcttcGgcttctgtttgagaaggcag	14	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50333092G>A	uc002ppw.1	+	6	628	c.575G>A	c.(574-576)CGG>CAG	p.R192Q	MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'UTR	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	192	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		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)		CCTGCGCTTCGGCTTCTGTTT	0.647													A	50333092	G	A	50333092	3	1	189	1	0	0	0	0	1	0	0	0	9443	1116	39	1	597	1	MED25	19	50333092	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	359440	50333092	8795891	4545	102402											
ZNF473	25888	broad.mit.edu	37	chr19	50550263	50550263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcctttcggtgccacTcgagcctcagccgccatcag	10	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50550263T>C	uc002prn.2	+	5	2800	c.2563T>C	c.(2563-2565)TCG>CCG	p.S855P	ZNF473_uc002prm.2_Missense_Mutation_p.S855P|ZNF473_uc010ybo.1_Missense_Mutation_p.S843P	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	855	C2H2-type 20.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCGGTGCCACTCGAGCCTCAG	0.532											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	50550263	T	C	50550263	3	2	189	1	0	0	0	0	1	0	0	0	17928	1551	54	3	2577	3	ZNF473	19	50550263	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	217171	50550263	8578720	4546	102403											
MYH14	79784	broad.mit.edu	37	chr19	50764738	50764738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacccctcacagatccagGcgctggaactggaccccaac	8	19	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50764738G>A	uc002prr.1	+	19	2355	c.2308G>A	c.(2308-2310)GCG>ACG	p.A770T	MYH14_uc010enu.1_Missense_Mutation_p.A811T|MYH14_uc002prq.1_Missense_Mutation_p.A778T	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	770	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACAGATCCAGGCGCTGGAACT	0.468													A	50764738	G	A	50764738	3	1	189	1	0	0	0	0	1	0	0	0	10033	1203	42	2	2509	2	MYH14	19	50764738	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	214475	50764738	8364245	4547	102404											
KCNC3	3748	broad.mit.edu	37	chr19	50826917	50826917	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcacgcgcagccccacGaagtgccgggtcagcttgaa	12	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50826917G>A	uc002pru.1	-	2	1588	c.1293C>T	c.(1291-1293)TTC>TTT	p.F431F	KCNC3_uc002prt.1_Silent_p.F67F	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	431	Helical; Voltage-sensor; Name=Segment S4; (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCAGCCCCACGAAGTGCCGGG	0.657													A	50826917	G	A	50826917	2	1	189	1	0	0	0	0	0	0	0	1	8016	1049	37	1		1	KCNC3	19	50826917	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	62179	50826917	8302066	4548	102405											
NAPSA	9476	broad.mit.edu	37	chr19	50868804	50868804	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaccataccggatcagTgtggccccggaaggctccac	13	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50868804T>C	uc002prx.2	-	1	128	c.75A>G	c.(73-75)ACA>ACG	p.T25T	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	25					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACCGGATCAGTGTGGCCCCGG	0.453													C	50868804	T	C	50868804	2	2	189	1	0	0	0	0	0	0	0	1	10166	1683	59	3		3	NAPSA	19	50868804	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	41887	50868804	8260179	4549	102406											
POLD1	5424	broad.mit.edu	37	chr19	50905562	50905562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtctcctggaacagggCatccgtgtggcaggcctggg	16	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50905562C>T	uc002psb.3	+	6	746	c.690C>T	c.(688-690)GGC>GGT	p.G230G	POLD1_uc002psc.3_Silent_p.G230G|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.G230G	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	230					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			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGGAACAGGGCATCCGTGTGG	0.697								DNA_polymerases_(catalytic_subunits)					T	50905562	C	T	50905562	2	4	189	1	0	0	0	0	0	0	0	1	12190	697	25	2		2	POLD1	19	50905562	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	36758	50905562	8223421	4550	102407											
POLD1	5424	broad.mit.edu	37	chr19	50921195	50921195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaccccctggacctgaGgcctggtgaccttgcaagca	12	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50921195G>T	uc002psb.3	+	27	3371	c.3315G>T	c.(3313-3315)GAG>GAT	p.E1105D	POLD1_uc002psc.3_Missense_Mutation_p.E1105D|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.E1131D|SPIB_uc002psd.2_5'Flank|SPIB_uc002pse.2_5'Flank|SPIB_uc010ycc.1_5'Flank	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	1105					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			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGACCTGAGGCCTGGTGAC	0.602								DNA_polymerases_(catalytic_subunits)					T	50921195	G	T	50921195	3	4	189	1	0	0	0	0	1	0	0	0	12190	991	35	5	3417	5	POLD1	19	50921195	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	15633	50921195	8207788	4551	102408											
FAM71E1	112703	broad.mit.edu	37	chr19	50979589	50979589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcgggctcctgatttgTgatgacgtccctggaggggg	17	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50979589T>C	uc002psh.2	-	1	415	c.57A>G	c.(55-57)TCA>TCG	p.S19S	FAM71E1_uc002psg.2_Silent_p.S19S|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	hypothetical protein LOC112703	19										breast(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TCCTGATTTGTGATGACGTCC	0.657													C	50979589	T	C	50979589	2	2	189	1	0	0	0	0	0	0	0	1	5611	1683	59	3		3	FAM71E1	19	50979589	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	58394	50979589	8149394	4552	102409											
FAM71E1	112703	broad.mit.edu	37	chr19	50979605	50979605	+	Frame_Shift_Del	DEL	G	G	-													tttgtgatgacgtccctggaGggggcggctcctggagatca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:50979604_50979604AG>A	uc002psh.3	-	0	400	c.42_42CT>T	c.(40-42)cctfs	p.P14fs	FAM71E1_uc002psg.3_Frame_Shift_Del_p.P14fs|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	14										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)		ACGTCCCTGGAGGGGGCGGCT	0.677													-	50979605	G	-	50979605	7	5	189	1	0	1	0	1	0	0	0	0	5611	1000	35	0	670	0	FAM71E1	19	50979605	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	16	50979605	8149378	4553	102410											
LRRC4B	94030	broad.mit.edu	37	chr19	51021967	51021967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacagcgggcgcagcacgTcgtgttgctgggcaccgtct	15	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:51021967T>C	uc002pss.2	-	3	1140	c.1003A>G	c.(1003-1005)ACG>GCG	p.T335A		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	335	LRRCT.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGCAGCACGTCGTGTTGCTG	0.657													C	51021967	T	C	51021967	3	2	189	1	0	0	0	0	1	0	0	0	9007	1667	58	3	1142	3	LRRC4B	19	51021967	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	42362	51021967	8107016	4554	102411											
IGLON5	402665	broad.mit.edu	37	chr19	51825371	51825371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgacaactacacagtgTgtgaaggtgacaacgccacc	10	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:51825371T>C	uc002pwc.2	+	2	133	c.133T>C	c.(133-135)TGT>CGT	p.C45R		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	45	Ig-like C2-type 1.					extracellular region					0						CTACACAGTGTGTGAAGGTGA	0.632													C	51825371	T	C	51825371	3	2	189	1	0	0	0	0	1	0	0	0	7595	1696	59	3	139	3	IGLON5	19	51825371	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	803404	51825371	7303612	4555	102412											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955734	51955734	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatctccgagtattcactgtCagtggcctcctgtccctgcg	10	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:51955734C>G	uc002pwt.2	-	7	1466	c.1399G>C	c.(1399-1401)GAC>CAC	p.D467H	SIGLEC8_uc010yda.1_Missense_Mutation_p.D358H|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.D374H	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	467	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TATTCACTGTCAGTGGCCTCC	0.547													G	51955734	C	G	51955734	3	3	189	1	0	0	0	0	1	0	0	0	14314	826	29	5	104	5	SIGLEC8	19	51955734	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	130363	51955734	7173249	4556	102413											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955829	51955829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccctgacgagggggcaAcagctgggggaggcttcttc	15	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:51955829A>G	uc002pwt.2	-	7	1371	c.1304T>C	c.(1303-1305)GTT>GCT	p.V435A	SIGLEC8_uc010yda.1_Missense_Mutation_p.V326A|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.V342A	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	435	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CGAGGGGGCAACAGCTGGGGG	0.587													G	51955829	A	G	51955829	3	3	189	1	0	0	0	0	1	0	0	0	14314	43	2	3	199	3	SIGLEC8	19	51955829	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	95	51955829	7173154	4557	102414											
SIGLEC12	89858	broad.mit.edu	37	chr19	52002707	52002707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacaggatatgttgagtcGgacagccctggtcatggtca	12	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52002707G>A	uc002pwx.1	-	3	1128	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*	SIGLEC12_uc002pww.1_Nonsense_Mutation_p.R240*|SIGLEC12_uc010eoy.1_Nonsense_Mutation_p.R85*	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	358	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGTTGAGTCGGACAGCCCTG	0.607													A	52002707	G	A	52002707	4	1	189	1	0	0	0	0	0	1	0	0	14308	1124	39	1	739	1	SIGLEC12	19	52002707	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	46878	52002707	7126276	4558	102415											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52147202	52147202	+	Frame_Shift_Del	DEL	G	G	-													ggaaccagctcagtgaggcaGgggggttgctgtcaactgtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52147201_52147201AG>A	uc002pxf.4	-	4	963	c.843_843CT>T	c.(841-843)cctfs	p.P281fs		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	281	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCAGTGAGGCAGGGGGGTTGC	0.602													-	52147202	G	-	52147202	7	5	189	1	0	1	0	1	0	0	0	0	14309	1000	35	0	360	0	SIGLEC14	19	52147202	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	144495	52147202	6981781	4559	102416											
FPR2	2358	broad.mit.edu	37	chr19	52272320	52272320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgggcccagaaccacCgcactgtgagtctggccatg	12	14	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52272320C>T	uc002pxr.2	+	2	454	c.409C>T	c.(409-411)CGC>TGC	p.R137C	FPR2_uc002pxs.3_Missense_Mutation_p.R137C|FPR2_uc010epf.2_Missense_Mutation_p.R137C	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	137	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						CCAGAACCACCGCACTGTGAG	0.498													T	52272320	C	T	52272320	3	4	189	1	0	0	0	0	1	0	0	0	6039	652	23	1	411	1	FPR2	19	52272320	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	125118	52272320	6856663	4560	102417											
ZNF649	65251	broad.mit.edu	37	chr19	52394084	52394084	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagaagtaagctttctcAcactcatcacagccataggg	7	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52394084A>G	uc002pxy.2	-	5	1573	c.1305T>C	c.(1303-1305)TGT>TGC	p.C435C	ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_Intron	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	435	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AAGCTTTCTCACACTCATCAC	0.438													G	52394084	A	G	52394084	2	3	189	1	0	0	0	0	0	0	0	1	18061	157	6	3		3	ZNF649	19	52394084	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	121764	52394084	6734899	4561	102418											
ZNF614	80110	broad.mit.edu	37	chr19	52519395	52519395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggattttccgcactcggTacatacaaagggagtctttc	9	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52519395T>C	uc002pyj.2	-	5	1858	c.1456A>G	c.(1456-1458)ACC>GCC	p.T486A	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.T189A	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	486	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCACTCGGTACATACAAAG	0.408													C	52519395	T	C	52519395	3	2	189	1	0	0	0	0	1	0	0	0	18036	1638	57	3	305	3	ZNF614	19	52519395	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	125311	52519395	6609588	4562	102419											
ZNF480	147657	broad.mit.edu	37	chr19	52817449	52817449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatagaattctctcaggCggagtggaaatgcctggacc	13	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52817449C>T	uc010ydl.1	+	3	186	c.116C>T	c.(115-117)GCG>GTG	p.A39V	ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Missense_Mutation_p.A39V|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCTCAGGCGGAGTGGAAA	0.473													T	52817449	C	T	52817449	3	4	189	1	0	0	0	0	1	0	0	0	17932	768	27	1	122	1	ZNF480	19	52817449	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	298054	52817449	6311534	4563	102420											
ZNF480	147657	broad.mit.edu	37	chr19	52825579	52825579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctataggattgcgctccttgTacgacatcagaaaattcata	7	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52825579T>C	uc010ydl.1	+	5	1146	c.1076T>C	c.(1075-1077)GTA>GCA	p.V359A	ZNF480_uc002pyv.2_Missense_Mutation_p.V282A|ZNF480_uc010ydm.1_Missense_Mutation_p.V316A|ZNF480_uc010epn.2_Missense_Mutation_p.V190A|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	359	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GCGCTCCTTGTACGACATCAG	0.378													C	52825579	T	C	52825579	3	2	189	1	0	0	0	0	1	0	0	0	17932	1638	57	3	1090	3	ZNF480	19	52825579	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	8130	52825579	6303404	4564	102421											
ZNF528	84436	broad.mit.edu	37	chr19	52918502	52918502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaaatttctgggtgtAagcattttgaaaaacccgtc	9	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:52918502A>G	uc002pzh.2	+	7	823	c.397A>G	c.(397-399)AAG>GAG	p.K133E	ZNF528_uc002pzi.2_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTCTGGGTGTAAGCATTTTGA	0.348													G	52918502	A	G	52918502	3	3	189	1	0	0	0	0	1	0	0	0	17966	363	13	3	411	3	ZNF528	19	52918502	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	92923	52918502	6210481	4565	102422											
ZNF611	81856	broad.mit.edu	37	chr19	53208359	53208359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacaaattgtacatttgTaagatttctctccagtatga	6	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53208359T>C	uc002pzz.2	-	7	2266	c.1949A>G	c.(1948-1950)TAC>TGC	p.Y650C	ZNF611_uc010eqc.2_Missense_Mutation_p.Y580C|ZNF611_uc010ydo.1_Missense_Mutation_p.Y580C|ZNF611_uc010ydr.1_Missense_Mutation_p.Y581C|ZNF611_uc010ydp.1_Missense_Mutation_p.Y650C|ZNF611_uc010ydq.1_Missense_Mutation_p.Y650C|ZNF611_uc002qaa.3_Missense_Mutation_p.Y580C	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	650	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGTACATTTGTAAGATTTCTC	0.403													C	53208359	T	C	53208359	3	2	189	1	0	0	0	0	1	0	0	0	18034	1638	57	3	172	3	ZNF611	19	53208359	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	289857	53208359	5920624	4566	102423											
ZNF160	90338	broad.mit.edu	37	chr19	53572886	53572886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatgacctgatgaatagTtagatttgaacgaacagtaa	10	4	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53572886T>C	uc010eqk.2	-	7	1317	c.901A>G	c.(901-903)ACT>GCT	p.T301A	ZNF160_uc002qaq.3_Missense_Mutation_p.T301A|ZNF160_uc002qar.3_Missense_Mutation_p.T301A	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	301	C2H2-type 2.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		TGATGAATAGTTAGATTTGAA	0.413													C	53572886	T	C	53572886	3	2	189	1	0	0	0	0	1	0	0	0	17736	1725	60	3	1559	3	ZNF160	19	53572886	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	364527	53572886	5556097	4567	102424											
ZNF415	55786	broad.mit.edu	37	chr19	53612426	53612426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccagtgtgaactctcCgatgtagtgcaaggcatgag	11	10	2	2	rs138480197	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53612426C>T	uc002qax.2	-	7	1365	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	ZNF415_uc002qat.2_Missense_Mutation_p.R303Q|ZNF415_uc002qaw.2_Missense_Mutation_p.R291Q|ZNF415_uc010yds.1_Missense_Mutation_p.R291Q|ZNF415_uc010ydt.1_Missense_Mutation_p.R291Q|ZNF415_uc002qau.2_Missense_Mutation_p.R278Q|ZNF415_uc002qav.2_Missense_Mutation_p.R303Q|ZNF415_uc002qba.2_Missense_Mutation_p.R61Q|ZNF415_uc002qay.2_Missense_Mutation_p.R278Q|ZNF415_uc002qaz.2_Missense_Mutation_p.R339Q	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	339	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		GTGAACTCTCCGATGTAGTGC	0.418													T	53612426	C	T	53612426	3	4	189	1	0	0	0	0	1	0	0	0	17889	652	23	1	799	1	ZNF415	19	53612426	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	39540	53612426	5516557	4568	102425											
ZNF347	84671	broad.mit.edu	37	chr19	53643691	53643691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacagatactaaagggtTtcccacactcatatggtttc	7	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53643691T>C	uc002qbb.1	-	5	2459	c.2390A>G	c.(2389-2391)AAA>AGA	p.K797R	ZNF347_uc010eql.1_Missense_Mutation_p.K798R|ZNF347_uc002qbc.1_Missense_Mutation_p.K798R	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	797	C2H2-type 20; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		ACTAAAGGGTTTCCCACACTC	0.413													C	53643691	T	C	53643691	3	2	189	1	0	0	0	0	1	0	0	0	17858	1841	64	3	133	3	ZNF347	19	53643691	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	31265	53643691	5485292	4569	102426											
ZNF677	342926	broad.mit.edu	37	chr19	53740671	53740672	+	Frame_Shift_Del	DEL	CA	CA	-													actttggataaaagccctgcCacacacattacatttgtgtg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53740670_53740671CCA>C	uc002qbg.1	-	4	1460_1461	c.1309_1310TGG>G	c.(1309-1311)ggcfs	p.G437fs	ZNF677_uc002qbf.1_Frame_Shift_Del_p.G437fs	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	437					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)		AAAAGCCCTGCCACACACATTA	0.371													-	53740672	CA	-	53740671	7	5	189	1	0	1	0	1	0	0	0	0	18081	594	21	0	449	0	ZNF677	19	53740671	Frame_Shift_Del	DEL	CA	TCGA-CG-5721-01A-11D-1600-08	96980	53740671	5388312	4570	102427											
ZNF677	342926	broad.mit.edu	37	chr19	53741578	53741578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaggatttattatgttgTtgatcttttctgtgagtgag	11	2	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53741578T>C	uc002qbf.1	-	5	587	c.402A>G	c.(400-402)CAA>CAG	p.Q134Q	ZNF677_uc002qbg.1_Silent_p.Q134Q	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TATTATGTTGTTGATCTTTTC	0.338													C	53741578	T	C	53741578	2	2	189	1	0	0	0	0	0	0	0	1	18081	1722	60	3		3	ZNF677	19	53741578	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	907	53741578	5387405	4571	102428											
VN1R2	317701	broad.mit.edu	37	chr19	53762245	53762245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagatgaaagtaaaagcccCgacatacattggtctctcca	8	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53762245C>A	uc002qbi.2	+	1	701	c.617C>A	c.(616-618)CCG>CAG	p.P206Q		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	206	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		GTAAAAGCCCCGACATACATT	0.483													A	53762245	C	A	53762245	3	1	189	1	0	0	0	0	1	0	0	0	17176	652	23	5	619	5	VN1R2	19	53762245	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	20667	53762245	5366738	4572	102429											
VN1R4	317703	broad.mit.edu	37	chr19	53770041	53770041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcaaaacaaaacctgTatacactggggtcacagctc	8	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53770041T>C	uc010ydu.1	-	1	878	c.878A>G	c.(877-879)TAC>TGC	p.Y293C		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	293	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		ACAAAACCTGTATACACTGGG	0.393										HNSCC(26;0.072)			C	53770041	T	C	53770041	3	2	189	1	0	0	0	0	1	0	0	0	17177	1638	57	3	30	3	VN1R4	19	53770041	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	7796	53770041	5358942	4573	102430											
ZNF761	388561	broad.mit.edu	37	chr19	53958506	53958506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaatgtgatgtatgtggcAagctctttaatcagaagcga	10	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:53958506A>G	uc010eqp.2	+	7	1203	c.745A>G	c.(745-747)AAG>GAG	p.K249E	ZNF761_uc010ydy.1_Missense_Mutation_p.K195E|ZNF761_uc002qbt.1_Missense_Mutation_p.K195E	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	249	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TGTATGTGGCAAGCTCTTTAA	0.403													G	53958506	A	G	53958506	3	3	189	1	0	0	0	0	1	0	0	0	18133	131	5	3	756	3	ZNF761	19	53958506	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	188465	53958506	5170477	4574	102431											
MYADM	91663	broad.mit.edu	37	chr19	54377168	54377168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctatgtccagttcctgTcccacggccgttcgcgggac	10	17	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:54377168T>C	uc002qcl.2	+	3	533	c.385T>C	c.(385-387)TCC>CCC	p.S129P	MYADM_uc002qcm.2_Missense_Mutation_p.S129P|MYADM_uc002qcn.2_Missense_Mutation_p.S129P|MYADM_uc002qco.2_Missense_Mutation_p.S129P|MYADM_uc002qcp.2_Missense_Mutation_p.S129P	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	129	MARVEL 1.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCAGTTCCTGTCCCACGGCCG	0.657													C	54377168	T	C	54377168	3	2	189	1	0	0	0	0	1	0	0	0	10006	1667	58	3	387	3	MYADM	19	54377168	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	418662	54377168	4751815	4575	102432											
LILRB5	10990	broad.mit.edu	37	chr19	54754762	54754762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctgtgtagctgggcgTaggtcacatcctggggggct	16	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:54754762T>C	uc002qex.2	-	13	1772	c.1661A>G	c.(1660-1662)TAC>TGC	p.Y554C	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_3'UTR|LILRB5_uc002qey.2_Missense_Mutation_p.Y555C|LILRB5_uc002qez.2_Missense_Mutation_p.Y455C|LILRB5_uc002qfa.1_3'UTR	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	554	ITIM motif 1.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	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)		TAGCTGGGCGTAGGTCACATC	0.647													C	54754762	T	C	54754762	3	2	189	1	0	0	0	0	1	0	0	0	8794	1638	57	3	115	3	LILRB5	19	54754762	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	377594	54754762	4374221	4576	102433											
LENG8	114823	broad.mit.edu	37	chr19	54963842	54963842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacagtacgtgtcccagGcagaagcctcagctttgcag	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:54963842G>A	uc002qfv.1	+	4	370	c.226G>A	c.(226-228)GCA>ACA	p.A76T	LENG8_uc002qfw.2_Missense_Mutation_p.A76T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	76							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGTGTCCCAGGCAGAAGCCTC	0.572													A	54963842	G	A	54963842	3	1	189	1	0	0	0	0	1	0	0	0	8724	1203	42	2	236	2	LENG8	19	54963842	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	209080	54963842	4165141	4577	102434											
LENG8	114823	broad.mit.edu	37	chr19	54969703	54969703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggccatgatcaaaacgtAtgtggtgccaagctcccttc	9	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:54969703A>G	uc002qfv.1	+	14	2276	c.2132A>G	c.(2131-2133)TAT>TGT	p.Y711C	LENG8_uc002qfw.2_Intron			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	711							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ATCAAAACGTATGTGGTGCCA	0.622													G	54969703	A	G	54969703	3	3	189	1	0	0	0	0	1	0	0	0	8724	464	16	3		3	LENG8	19	54969703	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5861	54969703	4159280	4578	102435											
NLRP2	55655	broad.mit.edu	37	chr19	55489171	55489171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacgaaatgctggagcGcttcaaaacagaagcacaag	12	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:55489171G>A	uc002qij.2	+	4	463	c.377G>A	c.(376-378)CGC>CAC	p.R126H	NLRP2_uc010yfp.1_Missense_Mutation_p.R103H|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.R126H|NLRP2_uc010esp.2_Missense_Mutation_p.R126H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	126					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATGCTGGAGCGCTTCAAAACA	0.537													A	55489171	G	A	55489171	3	1	189	1	0	0	0	0	1	0	0	0	10477	1087	38	1	387	1	NLRP2	19	55489171	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	519468	55489171	3639812	4579	102436											
PTPRH	5794	broad.mit.edu	37	chr19	55697344	55697344	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggccagtaatgctcAcacttcacctgggggaggag	13	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:55697344A>G	uc002qjq.2	-	17	2860	c.2787T>C	c.(2785-2787)TGT>TGC	p.C929C	PTPRH_uc010esv.2_Silent_p.C751C	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	929	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGTAATGCTCACACTTCACCT	0.597													G	55697344	A	G	55697344	2	3	189	1	0	0	0	0	0	0	0	1	12803	157	6	3		3	PTPRH	19	55697344	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	208173	55697344	3431639	4580	102437											
SAPS1	22870	broad.mit.edu	37	chr19	55753611	55753611	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactggctctgctccccctcGaacatgttgcttaagagctg	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:55753611G>A	uc002qjw.3	-	7	1010	c.768C>T	c.(766-768)TTC>TTT	p.F256F	SAPS1_uc002qjv.2_Silent_p.F318F	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	256	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCTCCCCCTCGAACATGTTGC	0.657													A	55753611	G	A	55753611	2	1	189	1	0	0	0	0	0	0	0	1	13836	1049	37	1		1	SAPS1	19	55753611	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	56267	55753611	3375372	4581	102438											
HSPBP1	23640	broad.mit.edu	37	chr19	55776758	55776758	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggaaagtctgtcaccaggCtgtgagggacatgacagcgg	16	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:55776758C>A	uc002qjx.2	-	6	1142	c.1032_splice	c.e6-1	p.S344_splice	HSPBP1_uc002qjy.2_Splice_Site_p.S298_splice|HSPBP1_uc002qkb.2_Intron|HSPBP1_uc002qka.2_Splice_Site_p.S298_splice|HSPBP1_uc002qkd.2_Splice_Site_p.S298_splice|HSPBP1_uc002qkc.2_Splice_Site_p.S298_splice|uc002qke.2_5'Flank	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein						positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGTCACCAGGCTGTGAGGGAC	0.532													A	55776758	C	A	55776758	5	1	189	1	0	0	0	0	0	0	1	0	7426	811	28	5	194	5	HSPBP1	19	55776758	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	23147	55776758	3352225	4582	102439											
IL11	3589	broad.mit.edu	37	chr19	55877435	55877435	+	Frame_Shift_Del	DEL	C	C	-													cagtcaagtgtcaggtgcagCccccccaggatggcgtgggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:55877435delC	uc002qks.1	-	5	676	c.540delG	c.(538-540)GGGfs	p.G180fs	FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Frame_Shift_Del_p.G101fs	NM_000641	NP_000632	P20809	IL11_HUMAN	interleukin 11 precursor	180					B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding				0	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	Oprelvekin(DB00038)	TCAGGTGCAGCCCCCCCAGGA	0.562													-	55877435	C	-	55877435	7	5	189	1	0	1	0	1	0	0	0	0	7622	726	26	0	63	0	IL11	19	55877435	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	100677	55877435	3251548	4583	102440											
UBE2S	27338	broad.mit.edu	37	chr19	55918226	55918226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcggtgaggtcctcctcGttgggaaagaccttgatgcc	14	10	0	3	rs139337996	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:55918226G>A	uc002qkx.1	-	2	476	c.108C>T	c.(106-108)AAC>AAT	p.N36N	uc002qky.2_5'Flank	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	36					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				0	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)		GGTCCTCCTCGTTGGGAAAGA	0.587													A	55918226	G	A	55918226	2	1	189	1	0	0	0	0	0	0	0	1	16869	1136	40	1		1	UBE2S	19	55918226	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	40791	55918226	3210757	4584	102441											
NLRP13	126204	broad.mit.edu	37	chr19	56413559	56413559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgggtgctgccagctgGcaaaaccagagcctgcaggg	15	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:56413559G>A	uc010ygg.1	-	9	2656	c.2631C>T	c.(2629-2631)TGC>TGT	p.C877C		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	877							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTGCCAGCTGGCAAAACCAGA	0.602													A	56413559	G	A	56413559	2	1	189	1	0	0	0	0	0	0	0	1	10475	1195	42	2		2	NLRP13	19	56413559	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	495333	56413559	2715424	4585	102442											
ZNF582	147948	broad.mit.edu	37	chr19	56896263	56896263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagtcttttctacattTattatacccaaaaggttttt	4	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:56896263T>C	uc002qmz.1	-	5	682	c.523A>G	c.(523-525)AAA>GAA	p.K175E	ZNF582_uc002qmy.2_Missense_Mutation_p.K206E	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	175	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTTCTACATTTATTATACCCA	0.343													C	56896263	T	C	56896263	3	2	189	1	0	0	0	0	1	0	0	0	18011	1763	61	3	1034	3	ZNF582	19	56896263	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	482704	56896263	2232720	4586	102443											
ZNF471	57573	broad.mit.edu	37	chr19	57036268	57036268	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacaaagtgaacaccttAttcagcatcaaagaattcat	4	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57036268A>T	uc002qnh.2	+	5	965	c.832A>T	c.(832-834)ATT>TTT	p.I278F		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	278	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGAACACCTTATTCAGCATCA	0.398													T	57036268	A	T	57036268	3	4	189	1	0	0	0	0	1	0	0	0	17927	449	16	5	846	5	ZNF471	19	57036268	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	140005	57036268	2092715	4587	102444											
ZFP28	140612	broad.mit.edu	37	chr19	57065823	57065823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatcaaaggattcataccGgagaaaaaccatatgaatgt	7	7	2	2	rs142195358		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57065823G>A	uc002qnj.2	+	8	1740	c.1669G>A	c.(1669-1671)GGA>AGA	p.G557R	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GATTCATACCGGAGAAAAACC	0.393													A	57065823	G	A	57065823	3	1	189	1	0	0	0	0	1	0	0	0	17639	1117	39	1	1699	1	ZFP28	19	57065823	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	29555	57065823	2063160	4588	102445											
PEG3	5178	broad.mit.edu	37	chr19	57327050	57327050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgggaacagagaattcGccatccttcttaaactcacc	8	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57327050G>A	uc002qnu.2	-	7	3111	c.2760C>T	c.(2758-2760)GGC>GGT	p.G920G	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.G891G|PEG3_uc002qnv.2_Silent_p.G920G|PEG3_uc002qnw.2_Silent_p.G796G|PEG3_uc002qnx.2_Silent_p.G794G|PEG3_uc010etr.2_Silent_p.G920G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	920					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGAGAATTCGCCATCCTTCT	0.438													A	57327050	G	A	57327050	2	1	189	1	0	0	0	0	0	0	0	1	11720	1074	38	1		1	PEG3	19	57327050	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	261227	57327050	1801933	4589	102446											
PEG3	5178	broad.mit.edu	37	chr19	57330063	57330063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacattttggtatgatTcagcatcctaaaacagcaaa	5	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57330063T>C	uc002qnu.2	-	5	1028	c.677A>G	c.(676-678)GAA>GGA	p.E226G	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.E101G|ZIM2_uc002qnq.2_Missense_Mutation_p.E101G|ZIM2_uc010etp.2_Missense_Mutation_p.E101G|ZIM2_uc010ygs.1_Missense_Mutation_p.E101G|PEG3_uc002qnt.2_Missense_Mutation_p.E227G|PEG3_uc002qnv.2_Missense_Mutation_p.E226G|PEG3_uc002qnw.2_Missense_Mutation_p.E101G|PEG3_uc002qnx.2_Missense_Mutation_p.E100G|PEG3_uc010etr.2_Missense_Mutation_p.E226G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	226					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGGTATGATTCAGCATCCTA	0.458													C	57330063	T	C	57330063	3	2	189	1	0	0	0	0	1	0	0	0	11720	1783	62	3	4104	3	PEG3	19	57330063	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3013	57330063	1798920	4590	102447											
PEG3	5178	broad.mit.edu	37	chr19	57334145	57334145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggttcctggtgtgggAccagcggtctcgtggctcca	15	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57334145A>G	uc002qnu.2	-	3	892	c.541T>C	c.(541-543)TCC>CCC	p.S181P	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.S56P|ZIM2_uc002qnq.2_Missense_Mutation_p.S56P|ZIM2_uc010etp.2_Missense_Mutation_p.S56P|ZIM2_uc010ygs.1_Missense_Mutation_p.S56P|PEG3_uc002qnt.2_Missense_Mutation_p.S182P|PEG3_uc002qnv.2_Missense_Mutation_p.S181P|PEG3_uc002qnw.2_Missense_Mutation_p.S56P|PEG3_uc002qnx.2_Missense_Mutation_p.S55P|PEG3_uc010etr.2_Missense_Mutation_p.S181P	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	181					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGGTGTGGGACCAGCGGTCT	0.537													G	57334145	A	G	57334145	3	3	189	1	0	0	0	0	1	0	0	0	11720	275	10	3	4248	3	PEG3	19	57334145	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4082	57334145	1794838	4591	102448											
USP29	57663	broad.mit.edu	37	chr19	57640239	57640240	+	Frame_Shift_Ins	INS	-	-	A													tgtggtccttagacattgtaINSaaaaaagacaaagtcacctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57640238_57640239T>TA	uc002qny.3	+	3	551_552	c.195_196T>TA	c.(193-198)tgtaaafs	p.C65fs	USP29_uc021vci.1_Frame_Shift_Ins_p.C65fs	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	65					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.R68fs*7(1)		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)		TTAGACATTGTAAAAAAAGACA	0.327													A	57640240	-	A	57640239	7	5	189	1	0	1	1	0	0	0	0	0	17056	363	13	0	198	0	USP29	19	57640239	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	306094	57640239	1488744	4592	102449											
USP29	57663	broad.mit.edu	37	chr19	57641676	57641676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttattgcaatgaaagcAccaaaccacctcttcccttg	4	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57641676A>G	uc002qny.2	+	4	1989	c.1633A>G	c.(1633-1635)ACC>GCC	p.T545A		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	545					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		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)		CAATGAAAGCACCAAACCACC	0.418													G	57641676	A	G	57641676	3	3	189	1	0	0	0	0	1	0	0	0	17056	159	6	3	1635	3	USP29	19	57641676	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1437	57641676	1487307	4593	102450											
ZNF264	9422	broad.mit.edu	37	chr19	57722986	57722986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcaaggattggacaggAgcaagtctctccaggagata	13	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57722986A>G	uc002qob.2	+	4	934	c.521A>G	c.(520-522)GAG>GGG	p.E174G		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		ATTGGACAGGAGCAAGTCTCT	0.463													G	57722986	A	G	57722986	3	3	189	1	0	0	0	0	1	0	0	0	17801	304	11	3	535	3	ZNF264	19	57722986	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	81310	57722986	1405997	4594	102451											
AURKC	6795	broad.mit.edu	37	chr19	57743127	57743127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctacagcaaaccaaAcagcccagcagcccagcagc	9	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57743127A>G	uc002qoe.2	+	2	265	c.76A>G	c.(76-78)ACA>GCA	p.T26A	AURKC_uc002qoc.2_Missense_Mutation_p.T7A|AURKC_uc002qod.2_5'UTR|AURKC_uc010etv.2_Missense_Mutation_p.T23A	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	26					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		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)		AGCAAACCAAAcagcccagca	0.259													G	57743127	A	G	57743127	3	3	189	1	0	0	0	0	1	0	0	0	1224	43	2	3	87	3	AURKC	19	57743127	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20141	57743127	1385856	4595	102452											
AURKC	6795	broad.mit.edu	37	chr19	57746724	57746724	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccagatcctgaagcAcccctgggttcaggcccact	10	17	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57746724A>T	uc002qoe.2	+	7	1058	c.869A>T	c.(868-870)CAC>CTC	p.H290L	AURKC_uc002qoc.2_Missense_Mutation_p.H271L|AURKC_uc002qod.2_Missense_Mutation_p.H256L|AURKC_uc010etv.2_Missense_Mutation_p.H287L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	290	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		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)		ATCCTGAAGCACCCCTGGGTT	0.597													T	57746724	A	T	57746724	3	4	189	1	0	0	0	0	1	0	0	0	1224	159	6	5	900	5	AURKC	19	57746724	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3597	57746724	1382259	4596	102453											
ZNF543	125919	broad.mit.edu	37	chr19	57839139	57839139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttgcctgaggaagtcttActccaggaacaactgacaca	9	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57839139A>G	uc002qoi.1	+	4	654	c.309A>G	c.(307-309)TTA>TTG	p.L103L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		AGGAAGTCTTACTCCAGGAAC	0.463													G	57839139	A	G	57839139	2	3	189	1	0	0	0	0	0	0	0	1	17973	388	14	3		3	ZNF543	19	57839139	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	92415	57839139	1289844	4597	102454											
ZNF543	125919	broad.mit.edu	37	chr19	57839764	57839764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggagaaaaaccctttGtgtgcaaagagtgtggcaaa	11	7	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57839764G>A	uc002qoi.1	+	4	1279	c.934G>A	c.(934-936)GTG>ATG	p.V312M		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	312	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		AAAACCCTTTGTGTGCAAAGA	0.498													A	57839764	G	A	57839764	3	1	189	1	0	0	0	0	1	0	0	0	17973	1377	48	4	948	4	ZNF543	19	57839764	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	625	57839764	1289219	4598	102455											
ZNF548	147694	broad.mit.edu	37	chr19	57910856	57910856	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagtgaatgtgggaaaTcatttaggtaccactgcagg	12	6	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57910856T>A	uc002qom.2	+	3	1451	c.1201T>A	c.(1201-1203)TCA>ACA	p.S401T	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.S404T	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	401	C2H2-type 8.				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)		ATGTGGGAAATCATTTAGGTA	0.448													A	57910856	T	A	57910856	3	1	189	1	0	0	0	0	1	0	0	0	17977	1435	50	5	1251	5	ZNF548	19	57910856	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	71092	57910856	1218127	4599	102456											
ZNF17	7565	broad.mit.edu	37	chr19	57931169	57931169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacacctggctgagcatgaCggaacacaccccaagcgtac	9	15	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57931169C>T	uc002qoo.1	+	3	540	c.309C>T	c.(307-309)GAC>GAT	p.D103D	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.D105D	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		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)		CTGAGCATGACGGAACACACC	0.512													T	57931169	C	T	57931169	2	4	189	1	0	0	0	0	0	0	0	1	17740	535	19	1		1	ZNF17	19	57931169	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	20313	57931169	1197814	4600	102457											
ZNF749	388567	broad.mit.edu	37	chr19	57956392	57956392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctttagatatcgctgtAcactgagtagacatcagaaa	7	7	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:57956392A>G	uc002qoq.2	+	3	2130	c.1876A>G	c.(1876-1878)ACA>GCA	p.T626A	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	626	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		ATATCGCTGTACACTGAGTAG	0.358													G	57956392	A	G	57956392	3	3	189	1	0	0	0	0	1	0	0	0	18128	391	14	3	1886	3	ZNF749	19	57956392	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	25223	57956392	1172591	4601	102458											
ZNF419	79744	broad.mit.edu	37	chr19	58005228	58005228	+	Frame_Shift_Del	DEL	T	T	-													agtgcagggaatgtgggaaaTtttttagccaaagctcaacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58005227_58005227AT>A	uc010ety.1	+	4	1545	c.1305_1305AT>A	c.(1303-1305)aaafs	p.K435fs	ZNF419_uc002qov.2_Frame_Shift_Del_p.K434fs|ZNF419_uc010etz.1_Frame_Shift_Del_p.K422fs|ZNF419_uc002qow.2_Frame_Shift_Del_p.K402fs|ZNF419_uc010eua.1_Frame_Shift_Del_p.K421fs|ZNF419_uc010eub.1_Frame_Shift_Del_p.K389fs|ZNF419_uc010euc.1_Frame_Shift_Del_p.K388fs	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	434					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)		AATGTGGGAAATTTTTTAGCC	0.413													-	58005228	T	-	58005228	7	5	189	1	0	1	0	1	0	0	0	0	17893	1493	52	0	1324	0	ZNF419	19	58005228	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	48836	58005228	1123755	4602	102459											
ZNF416	55659	broad.mit.edu	37	chr19	58083888	58083888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacataaggcctttctgCagtgtgaactttgtggtgtt	10	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58083888C>T	uc002qpf.2	-	4	1555	c.1384G>A	c.(1384-1386)GCA>ACA	p.A462T	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GGCCTTTCTGCAGTGTGAACT	0.438													T	58083888	C	T	58083888	3	4	189	1	0	0	0	0	1	0	0	0	17890	710	25	2	404	2	ZNF416	19	58083888	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	78660	58083888	1045095	4603	102460											
ZNF211	10520	broad.mit.edu	37	chr19	58152513	58152513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacagtaacaagtgtgcggTggccttttacagtggaaaaa	11	6	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58152513T>C	uc002qpq.2	+	3	839	c.659T>C	c.(658-660)GTG>GCG	p.V220A	ZNF211_uc010yhb.1_Missense_Mutation_p.V224A|ZNF211_uc002qpp.2_Missense_Mutation_p.V233A|ZNF211_uc002qpr.2_Missense_Mutation_p.V284A|ZNF211_uc002qps.2_Missense_Mutation_p.V285A|ZNF211_uc002qpt.2_Missense_Mutation_p.V232A|ZNF211_uc010yhc.1_Missense_Mutation_p.V232A|ZNF211_uc010yhd.1_Missense_Mutation_p.V159A|ZNF211_uc010yhe.1_Missense_Mutation_p.V211A	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		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)		AAGTGTGCGGTGGCCTTTTAC	0.468													C	58152513	T	C	58152513	3	2	189	1	0	0	0	0	1	0	0	0	17764	1696	59	3	712	3	ZNF211	19	58152513	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	68625	58152513	976470	4604	102461											
ZNF671	79891	broad.mit.edu	37	chr19	58232449	58232449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtatggcctttctccagtGtgaactgtctggtgtttaaa	10	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58232449G>A	uc002qpz.3	-	4	1104	c.1005C>T	c.(1003-1005)CAC>CAT	p.H335H	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Silent_p.H258H|ZNF671_uc010yhf.1_Silent_p.H237H	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	335	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TTTCTCCAGTGTGAACTGTCT	0.473													A	58232449	G	A	58232449	2	1	189	1	0	0	0	0	0	0	0	1	18075	1368	48	4		4	ZNF671	19	58232449	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	79936	58232449	896534	4605	102462											
ZNF587	84914	broad.mit.edu	37	chr19	58369951	58369951	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgctttcaggttgttgGtgtggatcaaaagatgagga	13	4	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58369951G>A	uc002qql.2	+	3	309	c.171G>A	c.(169-171)TGG>TGA	p.W57*	ZNF587_uc002qqb.2_Nonsense_Mutation_p.W14*|ZNF587_uc010yhh.1_Nonsense_Mutation_p.W14*|ZNF587_uc002qqi.1_Nonsense_Mutation_p.W14*|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Nonsense_Mutation_p.W56*	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0264)		CAGGTTGTTGGTGTGGATCAA	0.478													A	58369951	G	A	58369951	4	1	189	1	0	0	0	0	0	1	0	0	18017	1270	44	4	181	4	ZNF587	19	58369951	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	137502	58369951	759032	4606	102463											
ZNF418	147686	broad.mit.edu	37	chr19	58439288	58439288	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcccaagatcgcgccAcacatttcacaagagtgggc	9	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58439288A>G	uc002qqs.1	-	4	553	c.261T>C	c.(259-261)TGT>TGC	p.C87C	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.C2C	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	87	KRAB.|C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AGATCGCGCCACACATTTCAC	0.498													G	58439288	A	G	58439288	2	3	189	1	0	0	0	0	0	0	0	1	17892	157	6	3		3	ZNF418	19	58439288	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	69337	58439288	689695	4607	102464											
ZNF256	10172	broad.mit.edu	37	chr19	58453789	58453789	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgaaggtatgcagtAaattgtaattgtttcctaca	9	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58453789A>G	uc002qqu.2	-	3	622	c.387T>C	c.(385-387)TTT>TTC	p.F129F	ZNF256_uc010euj.2_5'UTR	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	129					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		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;0.0155)		GGTATGCAGTAAATTGTAATT	0.453													G	58453789	A	G	58453789	2	3	189	1	0	0	0	0	0	0	0	1	17796	359	13	3		3	ZNF256	19	58453789	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14501	58453789	675194	4608	102465											
ZNF135	7694	broad.mit.edu	37	chr19	58579383	58579383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagctcgtccctcaccAaacatcagcgaatccacact	5	17	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58579383A>G	uc010yhq.1	+	5	1663	c.1567A>G	c.(1567-1569)AAA>GAA	p.K523E	ZNF135_uc002qre.2_Missense_Mutation_p.K511E|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.K469E|ZNF135_uc002qrg.2_Missense_Mutation_p.K481E|ZNF135_uc010yhr.1_Missense_Mutation_p.K332E	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	523					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		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)		GTCCCTCACCAAACATCAGCG	0.557													G	58579383	A	G	58579383	3	3	189	1	0	0	0	0	1	0	0	0	17722	131	5	3	1734	3	ZNF135	19	58579383	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	125594	58579383	549600	4609	102466											
ZNF544	27300	broad.mit.edu	37	chr19	58773028	58773028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcattcagactacagagaaGccatctgtgtgtaatcagtg	9	8	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58773028G>A	uc010euo.2	+	7	1530	c.1056G>A	c.(1054-1056)AAG>AAA	p.K352K	ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Silent_p.K324K|ZNF544_uc010yhy.1_Silent_p.K324K|ZNF544_uc002qrt.3_Silent_p.K210K|ZNF544_uc002qru.3_Silent_p.K210K|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|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;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTACAGAGAAGCCATCTGTGT	0.483													A	58773028	G	A	58773028	2	1	189	1	0	0	0	0	0	0	0	1	17974	962	34	2		2	ZNF544	19	58773028	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	193645	58773028	355955	4610	102467											
A1BG	1	broad.mit.edu	37	chr19	58862876	58862876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccaccgcgttcaggtgaAagaagatgcgatctgggctg	16	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58862876A>G	uc002qsd.3	-	5	853	c.791T>C	c.(790-792)TTT>TCT	p.F264S	NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	alpha 1B-glycoprotein precursor	264	Ig-like V-type 3.					extracellular region					0		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)		GTTCAGGTGAAAGAAGATGCG	0.647													G	58862876	A	G	58862876	3	3	189	1	0	0	0	0	1	0	0	0	1	14	1	3	712	3	A1BG	19	58862876	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	89848	58862876	266107	4611	102468											
A1BG	1	broad.mit.edu	37	chr19	58869006	58869006	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggggactccatctcgCgcctgtgacctaaaacagga	10	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58869006C>T	uc002qsf.1	-	5		c.647G>A			ZNF497_uc002qsh.1_5'UTR|ZNF497_uc002qsi.1_5'UTR|uc002qsj.1_Missense_Mutation_p.A126V|uc002qsk.1_5'Flank			P04217	A1BG_HUMAN	Homo sapiens primary hepatoblastoma mRNA for alpha-1-B glycoprotein precursor, partial cds, clone:HYST2477.							extracellular region					0		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)		CTCCATCTCGCGCCTGTGACC	0.597													T	58869006	C	T	58869006	1	4	189	0	1	0	0	0	0	0	0	0	1	783	27	1		1	A1BG	19	58869006	RNA	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6130	58869006	259977	4612	102469											
ZNF584	201514	broad.mit.edu	37	chr19	58928585	58928585	+	Frame_Shift_Del	DEL	A	A	-													ctaagctgaggaaacaccagAaggttcacacaggcataaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58928584_58928584GA>G	uc002qsp.3	+	3	1151	c.699_699GA>G	c.(697-699)cagfs	p.Q233fs	ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	233					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)		GGAAACACCAGAAGGTTCACA	0.453													-	58928585	A	-	58928585	7	5	189	1	0	1	0	1	0	0	0	0	18013	247	9	0	714	0	ZNF584	19	58928585	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	59579	58928585	200398	4613	102470											
ZNF324B	388569	broad.mit.edu	37	chr19	58966843	58966843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggcccagggaaaagAccttcacagagtaccgggtg	14	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58966843A>G	uc002qsv.1	+	4	639	c.532A>G	c.(532-534)ACC>GCC	p.T178A	ZNF324B_uc002qsu.1_Missense_Mutation_p.T168A|ZNF324B_uc010euq.1_Missense_Mutation_p.T178A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CAGGGAAAAGACCTTCACAGA	0.667													G	58966843	A	G	58966843	3	3	189	1	0	0	0	0	1	0	0	0	17842	275	10	3	542	3	ZNF324B	19	58966843	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	38258	58966843	162140	4614	102471											
ZNF446	55663	broad.mit.edu	37	chr19	58988663	58988663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcctgagactgcccgCctccgcttccgagggttctg	14	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58988663C>A	uc002qsz.2	+	2	195	c.78C>A	c.(76-78)CGC>CGA	p.R26R	ZNF446_uc002qta.2_Silent_p.R26R|ZNF446_uc010eur.2_Silent_p.R26R	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	26	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		AGACTGCCCGCCTCCGCTTCC	0.662													A	58988663	C	A	58988663	2	1	189	1	0	0	0	0	0	0	0	1	17916	726	26	5		5	ZNF446	19	58988663	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	21820	58988663	140320	4615	102472											
ZNF446	55663	broad.mit.edu	37	chr19	58989496	58989496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacagtcccctgaggggaAccatggacaccaagaaccag	11	13	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:58989496A>G	uc002qsz.2	+	4	692	c.575A>G	c.(574-576)AAC>AGC	p.N192S	ZNF446_uc002qta.2_Missense_Mutation_p.N192S|ZNF446_uc010eur.2_Missense_Mutation_p.N192S	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	192					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		CCTGAGGGGAACCATGGACAC	0.607													G	58989496	A	G	58989496	3	3	189	1	0	0	0	0	1	0	0	0	17916	43	2	3	585	3	ZNF446	19	58989496	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	833	58989496	139487	4616	102473											
SLC27A5	10998	broad.mit.edu	37	chr19	59012015	59012015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaggtctcccacacaTcagcccgtagtccattgccc	9	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:59012015T>A	uc002qtc.2	-	5	1351	c.1241A>T	c.(1240-1242)GAT>GTT	p.D414V	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	414	Cytoplasmic (Probable).				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				0		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)		CTCCCACACATCAGCCCGTAG	0.577													A	59012015	T	A	59012015	3	1	189	1	0	0	0	0	1	0	0	0	14529	1435	50	5	855	5	SLC27A5	19	59012015	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	22519	59012015	116968	4617	102474											
TRIM28	10155	broad.mit.edu	37	chr19	59059476	59059476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccagaagcaccaggagCacattctgcgctttgcctct	9	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:59059476C>T	uc002qtg.1	+	7	1319	c.1030C>T	c.(1030-1032)CAC>TAC	p.H344Y	TRIM28_uc010eut.1_Missense_Mutation_p.H262Y|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	344	RBCC domain.|Leucine zipper alpha helical coiled-coil region.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		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)		GCACCAGGAGCACATTCTGCG	0.557													T	59059476	C	T	59059476	3	4	189	1	0	0	0	0	1	0	0	0	16499	710	25	2	1056	2	TRIM28	19	59059476	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	47461	59059476	69507	4618	102475											
MZF1	7593	broad.mit.edu	37	chr19	59073626	59073626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttcacccgtgtggatgCgccggtgctgggtgaggttg	18	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr19:59073626C>T	uc002qto.2	-	6	2579	c.2018G>A	c.(2017-2019)CGC>CAC	p.R673H	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.R673H	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	673	C2H2-type 11.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		CGTGTGGATGCGCCGGTGCTG	0.697													T	59073626	C	T	59073626	3	4	189	1	0	0	0	0	1	0	0	0	10108	768	27	1	190	1	MZF1	19	59073626	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	14150	59073626	55357	4619	102476											
RBCK1	10616	broad.mit.edu	37	chr20	409723	409723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggtcaccaagggcccAcgctggggccctggggtgag	18	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:409723A>G	uc002wdp.3	+	11	2130	c.1437A>G	c.(1435-1437)CCA>CCG	p.P479P	RBCK1_uc002wdq.3_Silent_p.P437P|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.P309P	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	479					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				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAAGGGCCCACGCTGGGGCC	0.557													G	409723	A	G	409723	2	3	189	1	0	0	0	0	0	0	0	1	13107	146	6	3		3	RBCK1	20	409723	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08		409723	62615797	4620	102477											
CSNK2A1	1457	broad.mit.edu	37	chr20	472935	472935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcaggacctttgaagtatCgggaagcaactcggacatta	11	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:472935C>T	uc002wdw.1	-	9	977	c.584G>A	c.(583-585)CGA>CAA	p.R195Q	CSNK2A1_uc002wdx.1_Missense_Mutation_p.R195Q|CSNK2A1_uc002wdy.1_Missense_Mutation_p.R59Q	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	195	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTTGAAGTATCGGGAAGCAAC	0.408													T	472935	C	T	472935	3	4	189	1	0	0	0	0	1	0	0	0	3957	884	31	1	615	1	CSNK2A1	20	472935	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	63212	472935	62552585	4621	102478											
RSPO4	343637	broad.mit.edu	37	chr20	948715	948715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagcctctgctggcagGtggaacagccgttctcctct	13	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:948715G>A	uc002wej.2	-	2	243	c.146C>T	c.(145-147)ACC>ATC	p.T49I	RSPO4_uc002wek.2_Missense_Mutation_p.T49I	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	49					Wnt receptor signaling pathway	extracellular region	heparin binding				0						CTGCTGGCAGGTGGAACAGCC	0.637													A	948715	G	A	948715	3	1	189	1	0	0	0	0	1	0	0	0	13712	1261	44	4	574	4	RSPO4	20	948715	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	475780	948715	62076805	4622	102479											
C20orf46	55321	broad.mit.edu	37	chr20	1161734	1161734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgaggcctgcgatgaTgcacctgtccaggtgggagc	15	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:1161734T>C	uc010gaa.1	-	3	748	c.529A>G	c.(529-531)ATC>GTC	p.I177V	C20orf46_uc002weq.1_Missense_Mutation_p.I177V	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	177	Helical; (Potential).					integral to membrane	protein binding			ovary(1)	1						CCTGCGATGATGCACCTGTCC	0.647													C	1161734	T	C	1161734	3	2	189	1	0	0	0	0	1	0	0	0	2113	1464	51	3	245	3	C20orf46	20	1161734	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	213019	1161734	61863786	4623	102480											
TMC2	117532	broad.mit.edu	37	chr20	2593880	2593880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgacatgctggtaacgtAcatcaccatcctgctggggg	12	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:2593880A>G	uc002wgf.1	+	14	1799	c.1784A>G	c.(1783-1785)TAC>TGC	p.Y595C	TMC2_uc002wgg.1_Missense_Mutation_p.Y579C|TMC2_uc010zpw.1_Missense_Mutation_p.Y427C|TMC2_uc010zpx.1_Missense_Mutation_p.Y426C	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	595	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						CTGGTAACGTACATCACCATC	0.557													G	2593880	A	G	2593880	3	3	189	1	0	0	0	0	1	0	0	0	15982	391	14	3	1838	3	TMC2	20	2593880	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1432146	2593880	60431640	4624	102481											
TMC2	117532	broad.mit.edu	37	chr20	2597830	2597830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacgtaccccatgaacgcGtgttcaaagcctcccgatcc	8	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:2597830G>A	uc002wgf.1	+	16	2068	c.2053G>A	c.(2053-2055)GTG>ATG	p.V685M	TMC2_uc002wgg.1_Missense_Mutation_p.V669M	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	685	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						CCATGAACGCGTGTTCAAAGC	0.592													A	2597830	G	A	2597830	3	1	189	1	0	0	0	0	1	0	0	0	15982	1145	40	1	2115	1	TMC2	20	2597830	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3950	2597830	60427690	4625	102482											
CPXM1	56265	broad.mit.edu	37	chr20	2776643	2776643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacggtggcattgggcagGgtgtagtaagtgggcaatgg	18	6	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:2776643G>A	uc002wgu.2	-	10	1471	c.1407C>T	c.(1405-1407)ACC>ACT	p.T469T	CPXM1_uc010gas.2_Silent_p.T469T	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	469					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						CATTGGGCAGGGTGTAGTAAG	0.597													A	2776643	G	A	2776643	2	1	189	1	0	0	0	0	0	0	0	1	3837	1219	43	4		4	CPXM1	20	2776643	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	178813	2776643	60248877	4626	102483											
VPS16	64601	broad.mit.edu	37	chr20	2841438	2841438	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtgctgtgccaggacCgagtggcacacattcttctg	13	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:2841438C>T	uc002whe.2	+	6	607	c.559C>T	c.(559-561)CGA>TGA	p.R187*	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Nonsense_Mutation_p.R187*|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	187					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						GTGCCAGGACCGAGTGGCACA	0.572													T	2841438	C	T	2841438	4	4	189	1	0	0	0	0	0	1	0	0	17190	644	23	1	581	1	VPS16	20	2841438	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	64795	2841438	60184082	4627	102484											
VPS16	64601	broad.mit.edu	37	chr20	2845650	2845650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggcgagtagcagctctGcagacagccgccgatgcctt	15	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:2845650G>A	uc002whe.2	+	20	2001	c.1953G>A	c.(1951-1953)CTG>CTA	p.L651L	VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Silent_p.L507L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Silent_p.L337L|VPS16_uc002whi.2_Silent_p.L135L	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	651					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						TAGCAGCTCTGCAGACAGCCG	0.557													A	2845650	G	A	2845650	2	1	189	1	0	0	0	0	0	0	0	1	17190	1306	46	2		2	VPS16	20	2845650	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	4212	2845650	60179870	4628	102485											
PTPRA	5786	broad.mit.edu	37	chr20	2998463	2998463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttggctactttaggAccaaaagaagaaacggtgaa	11	6	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:2998463A>G	uc010zqd.1	+	12	1295	c.978A>G	c.(976-978)GGA>GGG	p.G326G	PTPRA_uc002whj.2_Silent_p.G315G|PTPRA_uc002whk.2_Silent_p.G306G|PTPRA_uc002whl.2_Silent_p.G306G|PTPRA_uc002whm.2_Silent_p.G82G|PTPRA_uc002whn.2_Silent_p.G306G|PTPRA_uc002who.2_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	315	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						CTACTTTAGGACCAAAAGAAG	0.453													G	2998463	A	G	2998463	2	3	189	1	0	0	0	0	0	0	0	1	12795	289	10	3		3	PTPRA	20	2998463	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	152813	2998463	60027057	4629	102486											
FASTKD5	60493	broad.mit.edu	37	chr20	3127441	3127441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagagcagaggtgaatActttctcatgaagaaacgcc	10	8	2	5	rs147125058	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:3127441A>G	uc002whz.2	-	2	2587	c.2276T>C	c.(2275-2277)GTA>GCA	p.V759A	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	759					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						AGAGGTGAATACTTTCTCATG	0.448													G	3127441	A	G	3127441	3	3	189	1	0	0	0	0	1	0	0	0	5688	391	14	3	22	3	FASTKD5	20	3127441	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	128978	3127441	59898079	4630	102487											
FASTKD5	60493	broad.mit.edu	37	chr20	3127511	3127511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccattcccagtaggAtaactctaccacacggtagc	10	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:3127511A>G	uc002whz.2	-	2	2517	c.2206T>C	c.(2206-2208)TCC>CCC	p.S736P	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	736	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						TCCCAGTAGGATAACTCTACC	0.493													G	3127511	A	G	3127511	3	3	189	1	0	0	0	0	1	0	0	0	5688	333	12	3	92	3	FASTKD5	20	3127511	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	70	3127511	59898009	4631	102488											
C20orf194	25943	broad.mit.edu	37	chr20	3233240	3233240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcttcagctcaaagaggTcatgatactcctgctgttcc	10	11	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:3233240T>C	uc002wii.2	-	37	3563	c.3512A>G	c.(3511-3513)GAC>GGC	p.D1171G	C20orf194_uc002wij.3_Missense_Mutation_p.D910G|C20orf194_uc002wik.2_Missense_Mutation_p.D845G	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1171											0						CTCAAAGAGGTCATGATACTC	0.517													C	3233240	T	C	3233240	3	2	189	1	0	0	0	0	1	0	0	0	2099	1667	58	3	25	3	C20orf194	20	3233240	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	105729	3233240	59792280	4632	102489											
SLC23A2	9962	broad.mit.edu	37	chr20	4855324	4855324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgtattgagaaaacagTaatactaggaatattgtcct	9	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:4855324T>C	uc002wlg.1	-	10	1218	c.843A>G	c.(841-843)TTA>TTG	p.L281L	SLC23A2_uc010zqr.1_Silent_p.L166L|SLC23A2_uc002wlh.1_Silent_p.L281L|SLC23A2_uc002wli.2_Silent_p.L280L	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	281	Helical; (Potential).				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			ovary(2)	2						GAGAAAACAGTAATACTAGGA	0.358													C	4855324	T	C	4855324	2	2	189	1	0	0	0	0	0	0	0	1	14463	1635	57	3		3	SLC23A2	20	4855324	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1622084	4855324	58170196	4633	102490											
SLC23A2	9962	broad.mit.edu	37	chr20	4880213	4880213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctcacctgcatccaaacGttgtctgtagcaaagtagtg	8	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:4880213G>A	uc002wlg.1	-	6	845	c.470C>T	c.(469-471)ACG>ATG	p.T157M	SLC23A2_uc010zqr.1_Missense_Mutation_p.T156M|SLC23A2_uc002wlh.1_Missense_Mutation_p.T157M|SLC23A2_uc002wli.2_Missense_Mutation_p.T156M	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	157	Helical; (Potential).				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			ovary(2)	2						GCATCCAAACGTTGTCTGTAG	0.552													A	4880213	G	A	4880213	3	1	189	1	0	0	0	0	1	0	0	0	14463	1145	40	1	1530	1	SLC23A2	20	4880213	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24889	4880213	58145307	4634	102491											
PCNA	5111	broad.mit.edu	37	chr20	5096170	5096170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtaaagaagttcaggtAcctcagtgcaaaagttagtt	9	5	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:5096170A>G	uc002wlp.2	-	5	834	c.631T>C	c.(631-633)TAC>CAC	p.Y211H	C20orf30_uc010gbi.2_5'Flank|C20orf30_uc002wlk.2_5'Flank|C20orf30_uc002wll.2_5'Flank|C20orf30_uc002wlm.2_5'Flank|C20orf30_uc002wln.2_5'Flank|C20orf30_uc002wlo.2_5'Flank|PCNA_uc002wlq.2_Missense_Mutation_p.Y211H	NM_182649	NP_872590	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	211					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			lung(1)	1						AAGTTCAGGTACCTCAGTGCA	0.333								DNA_polymerases_(catalytic_subunits)					G	5096170	A	G	5096170	3	3	189	1	0	0	0	0	1	0	0	0	11588	391	14	3	162	3	PCNA	20	5096170	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	215957	5096170	57929350	4635	102492											
TRMT6	51605	broad.mit.edu	37	chr20	5924808	5924808	+	Frame_Shift_Del	DEL	T	T	-													ttaaaataaaaactacttacTtttttttcttctttttaata							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:5924808delT	uc002wmh.1	-	4	580	c.458delA	c.(457-459)AAAfs	p.K153fs	TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	153					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						AACTACTTACTTTTTTTTCTT	0.194													-	5924808	T	-	5924808	7	5	189	1	0	1	0	1	0	0	0	0	16565	1623	56	0	1067	0	TRMT6	20	5924808	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	828638	5924808	57100712	4636	102493											
FERMT1	55612	broad.mit.edu	37	chr20	6057833	6057833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtttcaatcctgaccgCcggtcaatttgtggaacaag	10	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:6057833C>A	uc002wmr.2	-	15	2810	c.2021G>T	c.(2020-2022)GGC>GTC	p.G674V	FERMT1_uc002wmq.2_Missense_Mutation_p.G227V|FERMT1_uc010gbt.2_Missense_Mutation_p.G417V	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	674					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						ATCCTGACCGCCGGTCAATTT	0.542											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6057833	C	A	6057833	3	1	189	1	0	0	0	0	1	0	0	0	5817	739	26	5	16	5	FERMT1	20	6057833	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	133025	6057833	56967687	4637	102494											
FERMT1	55612	broad.mit.edu	37	chr20	6057917	6057917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatgtagccgccaatgTactcgtgcacaatcttgcaa	8	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:6057917T>C	uc002wmr.2	-	15	2726	c.1937A>G	c.(1936-1938)TAC>TGC	p.Y646C	FERMT1_uc002wmq.2_Missense_Mutation_p.Y199C|FERMT1_uc010gbt.2_Missense_Mutation_p.Y389C	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	646	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						GCCGCCAATGTACTCGTGCAC	0.493											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	6057917	T	C	6057917	3	2	189	1	0	0	0	0	1	0	0	0	5817	1638	57	3	100	3	FERMT1	20	6057917	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	84	6057917	56967603	4638	102495											
BMP2	650	broad.mit.edu	37	chr20	6759620	6759620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttaactctaagattcctaagGcatgctgtgtcccgacagaa	8	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:6759620G>C	uc002wmu.1	+	3	1860	c.1075G>C	c.(1075-1077)GCA>CCA	p.A359P		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	359					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			ovary(1)|breast(1)	2					Simvastatin(DB00641)	GATTCCTAAGGCATGCTGTGT	0.458													C	6759620	G	C	6759620	3	2	189	1	0	0	0	0	1	0	0	0	1459	1203	42	5	1081	5	BMP2	20	6759620	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	701703	6759620	56265900	4639	102496											
HAO1	54363	broad.mit.edu	37	chr20	7894828	7894828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgagttgtggcggcagTttgaatctgttacgcacatc	11	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:7894828T>C	uc002wmw.1	-	3	552	c.528A>G	c.(526-528)AAA>AAG	p.K176K	HAO1_uc010gbu.2_Silent_p.K176K	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	176	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			ovary(3)	3						GTGGCGGCAGTTTGAATCTGT	0.378													C	7894828	T	C	7894828	2	2	189	1	0	0	0	0	0	0	0	1	6951	1722	60	3		3	HAO1	20	7894828	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1135208	7894828	55130692	4640	102497											
SNAP25	6616	broad.mit.edu	37	chr20	10277662	10277662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgtgtagtggacgaacGggagcagatggccatcagtg	16	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:10277662G>A	uc002wnq.1	+	6	583	c.371G>A	c.(370-372)CGG>CAG	p.R124Q	SNAP25_uc002wnr.1_Missense_Mutation_p.R124Q|SNAP25_uc002wns.1_Missense_Mutation_p.R61Q|SNAP25_uc010gca.1_Missense_Mutation_p.R124Q|SNAP25_uc010gcb.1_Missense_Mutation_p.R61Q|SNAP25_uc010gcc.1_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	synaptosomal-associated protein 25 isoform	124					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				skin(2)	2					Botulinum Toxin Type A(DB00083)	GTGGACGAACGGGAGCAGATG	0.438													A	10277662	G	A	10277662	3	1	189	1	0	0	0	0	1	0	0	0	14830	1116	39	1	511	1	SNAP25	20	10277662	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2382834	10277662	52747858	4641	102498											
JAG1	182	broad.mit.edu	37	chr20	10624479	10624479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacattcgcaccggtaccagTtgtctccatccacacaggtg	8	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:10624479T>C	uc002wnw.2	-	20	2921	c.2405A>G	c.(2404-2406)AAC>AGC	p.N802S	JAG1_uc010gcd.1_Missense_Mutation_p.N360S	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	802	EGF-like 15; calcium-binding (Potential).|Extracellular (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			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CCGGTACCAGTTGTCTCCATC	0.522									Alagille_Syndrome				C	10624479	T	C	10624479	3	2	189	1	0	0	0	0	1	0	0	0	7934	1725	60	3	1279	3	JAG1	20	10624479	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	346817	10624479	52401041	4642	102499											
ESF1	51575	broad.mit.edu	37	chr20	13714388	13714388	+	Frame_Shift_Del	DEL	T	T	-													cttctgtttccttttcagtcTttttttctctttcttcttct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:13714387_13714387CT>C	uc002woj.3	-	9	2039	c.1931_1931AG>G	c.(1930-1932)agafs	p.R644fs		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	644	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						CCTTTTCAGTCTTTTTTTCTC	0.348													-	13714388	T	-	13714388	7	5	189	1	0	1	0	1	0	0	0	0	5251	1617	56	0	645	0	ESF1	20	13714388	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	3089909	13714388	49311132	4643	102500											
KIF16B	55614	broad.mit.edu	37	chr20	16359926	16359926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggtactgtagctgGcgttctttatattgcagcct	12	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:16359926G>A	uc002wpg.1	-	19	2879	c.2721C>T	c.(2719-2721)CGC>CGT	p.R907R	KIF16B_uc002wpe.1_Silent_p.R289R|KIF16B_uc002wpf.1_Silent_p.R289R|KIF16B_uc010gch.1_Silent_p.R907R|KIF16B_uc010gci.1_Silent_p.R907R|KIF16B_uc010gcj.1_Silent_p.R918R	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	907	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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ACTGTAGCTGGCGTTCTTTAT	0.443													A	16359926	G	A	16359926	2	1	189	1	0	0	0	0	0	0	0	1	8278	1190	42	2		2	KIF16B	20	16359926	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2645538	16359926	46665594	4644	102501											
SNRPB2	6629	broad.mit.edu	37	chr20	16717990	16717990	+	Frame_Shift_Del	DEL	A	A	-													aagaaaagaaaaaagaaaagAaaaaagccaaaactgtggaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:16717989_16717989GA>G	uc002wph.2	+	3	557	c.321_321GA>G	c.(319-321)aagfs	p.K107fs	SNRPB2_uc002wpi.2_Frame_Shift_Del_p.K107fs	NM_003092	NP_937863	P08579	RU2B_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.	107						U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						aaaaagaaaagaaaaaagCCA	0.338													-	16717990	A	-	16717990	7	5	189	1	0	1	0	1	0	0	0	0	14862	247	9	0	332	0	SNRPB2	20	16717990	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	358064	16717990	46307530	4645	102502											
DSTN	11034	broad.mit.edu	37	chr20	17581680	17581681	+	Frame_Shift_Ins	INS	-	-	T													cagaaaagaagagttgatgtINStttttttgtggtaagcatgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:17581679_17581680G>GT	uc002wpr.3	+	1	555_556	c.300_301G>GT	c.(298-303)atgtttfs	p.M100fs	DSTN_uc002wpq.3_Frame_Shift_Ins_p.M83fs|DSTN_uc010gck.3_Frame_Shift_Ins_p.M83fs	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356													T	17581681	-	T	17581680	7	5	189	1	0	1	1	0	0	0	0	0	4784	1725	60	0	307	0	DSTN	20	17581680	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	863690	17581680	45443840	4646	102503											
ZNF133	7692	broad.mit.edu	37	chr20	18296188	18296188	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgacaaacctgctcagTcaccagcggatacactcagg	9	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:18296188T>C	uc010gcq.2	+	5	998	c.693T>C	c.(691-693)AGT>AGC	p.S231S	ZNF133_uc010zrv.1_Silent_p.S234S|ZNF133_uc010zrw.1_Silent_p.S168S|ZNF133_uc010gcr.2_Silent_p.S231S|ZNF133_uc010zrx.1_Silent_p.S136S|ZNF133_uc002wql.3_Silent_p.S230S|ZNF133_uc010gcs.2_Silent_p.S230S|ZNF133_uc010zry.1_Silent_p.S136S|ZNF133_uc002wqm.2_Silent_p.S231S	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	231	C2H2-type 1.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ACCTGCTCAGTCACCAGCGGA	0.498													C	18296188	T	C	18296188	2	2	189	1	0	0	0	0	0	0	0	1	17720	1664	58	3		3	ZNF133	20	18296188	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	714508	18296188	44729332	4647	102504											
SEC23B	10483	broad.mit.edu	37	chr20	18513351	18513351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagccattggtccatgcgTatctctgaatgtgaaaggac	12	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:18513351T>C	uc002wqz.1	+	11	1720	c.1277T>C	c.(1276-1278)GTA>GCA	p.V426A	SEC23B_uc002wra.1_Missense_Mutation_p.V426A|SEC23B_uc002wrb.1_Missense_Mutation_p.V426A|SEC23B_uc010zsb.1_Missense_Mutation_p.V408A|SEC23B_uc002wrc.1_Missense_Mutation_p.V426A	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	426					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			ovary(1)	1						GGTCCATGCGTATCTCTGAAT	0.463													C	18513351	T	C	18513351	3	2	189	1	0	0	0	0	1	0	0	0	13992	1638	57	3	1315	3	SEC23B	20	18513351	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	217163	18513351	44512169	4648	102505											
SEC23B	10483	broad.mit.edu	37	chr20	18523751	18523751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcacggcttggggtgTtccgagcggagtcagaggag	19	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:18523751T>C	uc002wqz.1	+	14	2043	c.1600T>C	c.(1600-1602)TTC>CTC	p.F534L	SEC23B_uc002wra.1_Missense_Mutation_p.F534L|SEC23B_uc002wrb.1_Missense_Mutation_p.F534L|SEC23B_uc010zsb.1_Missense_Mutation_p.F516L|SEC23B_uc002wrc.1_Missense_Mutation_p.F534L	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	534					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			ovary(1)	1						GCTTGGGGTGTTCCGAGCGGA	0.567													C	18523751	T	C	18523751	3	2	189	1	0	0	0	0	1	0	0	0	13992	1725	60	3	1650	3	SEC23B	20	18523751	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10400	18523751	44501769	4649	102506											
CRNKL1	51340	broad.mit.edu	37	chr20	20020405	20020405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttttcataaagcttccGgcatctgtcaaattctcgaa	6	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:20020405G>A	uc002wrs.2	-	12	1908	c.1876C>T	c.(1876-1878)CGG>TGG	p.R626W		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	626	HAT 12.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TAAAGCTTCCGGCATCTGTCA	0.363													A	20020405	G	A	20020405	3	1	189	1	0	0	0	0	1	0	0	0	3891	1115	39	1	686	1	CRNKL1	20	20020405	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1496654	20020405	43005115	4650	102507											
C20orf26	26074	broad.mit.edu	37	chr20	20144857	20144857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgttttgtattgatgAgaaatatgaagcaaggcaag	11	4	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:20144857A>G	uc002wru.2	+	11	1266	c.1190A>G	c.(1189-1191)GAG>GGG	p.E397G	C20orf26_uc010gcw.1_Missense_Mutation_p.E351G|C20orf26_uc010zse.1_Missense_Mutation_p.E397G|C20orf26_uc010zsf.1_Missense_Mutation_p.E397G	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	397										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TGTATTGATGAGAAATATGAA	0.478													G	20144857	A	G	20144857	3	3	189	1	0	0	0	0	1	0	0	0	2106	304	11	3	1228	3	C20orf26	20	20144857	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	124452	20144857	42880663	4651	102508											
C20orf26	26074	broad.mit.edu	37	chr20	20226821	20226821	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggactcccaggaaaaaaActtctggacactgaacaaag	8	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:20226821A>G	uc002wru.2	+	19	2197	c.2121A>G	c.(2119-2121)AAA>AAG	p.K707K	C20orf26_uc010zse.1_Silent_p.K687K|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Silent_p.K63K	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	707										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CAGGAAAAAAACTTCTGGACA	0.353													G	20226821	A	G	20226821	2	3	189	1	0	0	0	0	0	0	0	1	2106	40	2	3		3	C20orf26	20	20226821	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	81964	20226821	42798699	4652	102509											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493642	20493643	+	Frame_Shift_Del	DEL	AG	AG	-													ctcacaattactctcacatcAgagagagagcccactggtga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:20493641_20493642CAG>C	uc002wrz.3	-	31	4514_4515	c.4371_4372CTG>G	c.(4369-4374)tctgatfs	p.S1457fs	RALGAPA2_uc002wry.3_Frame_Shift_Del_p.S1072fs|RALGAPA2_uc010zsg.2_Frame_Shift_Del_p.S905fs|RALGAPA2_uc002wsa.1_Frame_Shift_Del_p.S229fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1457					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization 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						ACTCTCACATCAGAGAGAGAGC	0.475													-	20493643	AG	-	20493642	7	5	189	1	0	1	0	1	0	0	0	0	13014	175	7	0	1282	0	RALGAPA2	20	20493642	Frame_Shift_Del	DEL	AG	TCGA-CG-5721-01A-11D-1600-08	266821	20493642	42531878	4653	102510											
RALGAPA2	57186	broad.mit.edu	37	chr20	20571891	20571891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaaggacctgctgctgCtgtcccactgtgagatggcc	12	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:20571891C>T	uc002wrz.2	-	17	2414	c.2271G>A	c.(2269-2271)CAG>CAA	p.Q757Q	RALGAPA2_uc010gcx.2_Silent_p.Q461Q|RALGAPA2_uc010zsg.1_Silent_p.Q205Q	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	757	Poly-Gln.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						CCTGCTGCTGCTGTCCCACTG	0.512													T	20571891	C	T	20571891	2	4	189	1	0	0	0	0	0	0	0	1	13014	796	28	2		2	RALGAPA2	20	20571891	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	78249	20571891	42453629	4654	102511											
RALGAPA2	57186	broad.mit.edu	37	chr20	20582381	20582381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactcccggtgctccagaCgtggtggcactcctaaatcg	10	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:20582381C>T	uc002wrz.2	-	16	2291	c.2148G>A	c.(2146-2148)ACG>ACA	p.T716T	RALGAPA2_uc010gcx.2_Silent_p.T420T|RALGAPA2_uc010zsg.1_Silent_p.T117T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	716					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GTGCTCCAGACGTGGTGGCAC	0.463													T	20582381	C	T	20582381	2	4	189	1	0	0	0	0	0	0	0	1	13014	523	19	1		1	RALGAPA2	20	20582381	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	10490	20582381	42443139	4655	102512											
PLK1S1	55857	broad.mit.edu	37	chr20	21143065	21143065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagagccagcccgccagTctctccgataccagtttcag	8	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:21143065T>C	uc002wsb.2	+	5	1092	c.959T>C	c.(958-960)GTC>GCC	p.V320A	PLK1S1_uc010zsh.1_Missense_Mutation_p.V217A|PLK1S1_uc010zsi.1_Missense_Mutation_p.V187A|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1 isoform 1	320					spindle organization	centrosome	protein kinase binding				0						AGCCCGCCAGTCTCTCCGATA	0.458													C	21143065	T	C	21143065	3	2	189	1	0	0	0	0	1	0	0	0	12095	1667	58	3	977	3	PLK1S1	20	21143065	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	560684	21143065	41882455	4656	102513											
FOXA2	3170	broad.mit.edu	37	chr20	22563595	22563595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccggccgagccgcccatGcccgccatggcgcccgcgcc	13	23	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:22563595G>A	uc002wsn.2	-	3	457	c.267C>T	c.(265-267)GGC>GGT	p.G89G	FOXA2_uc002wsm.2_Silent_p.G95G	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	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			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					AGCCGCCCATGCCCGCCATGG	0.771													A	22563595	G	A	22563595	2	1	189	1	0	0	0	0	0	0	0	1	5990	1306	46	2		2	FOXA2	20	22563595	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1420530	22563595	40461925	4657	102514											
NXT1	29107	broad.mit.edu	37	chr20	23334997	23334997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgaggggaacaaacaaCgggacttcaaccagaacttc	10	9	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:23334997C>T	uc002wsx.1	+	2	706	c.319C>T	c.(319-321)CGG>TGG	p.R107W		NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	107	NTF2.					cytoplasm|nuclear pore				ovary(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAACAAACAACGGGACTTCAA	0.552													T	23334997	C	T	23334997	3	4	189	1	0	0	0	0	1	0	0	0	10794	527	19	1	321	1	NXT1	20	23334997	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	771402	23334997	39690523	4658	102515											
CST1	1469	broad.mit.edu	37	chr20	23729754	23729754	+	Frame_Shift_Del	DEL	C	C	-													tacgtcgaagaagtaattcaCccccccaacggtctgcacac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:23729753_23729753AC>A	uc002wtp.3	-	1	313	c.242_242GT>T	c.(241-243)gtgfs	p.V81fs		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAAC	0.552													-	23729754	C	-	23729754	7	5	189	1	0	1	0	1	0	0	0	0	3970	507	18	0	192	0	CST1	20	23729754	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	394757	23729754	39295766	4659	102516											
ACSS1	84532	broad.mit.edu	37	chr20	25003605	25003605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcggcatagagcaggtAgcctgcctgggtatggacga	17	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:25003605A>G	uc002wub.2	-	5	1809	c.931T>C	c.(931-933)TAC>CAC	p.Y311H	ACSS1_uc002wuc.2_Missense_Mutation_p.Y311H|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.Y228H	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	311					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TAGAGCAGGTAGCCTGCCTGG	0.637													G	25003605	A	G	25003605	3	3	189	1	0	0	0	0	1	0	0	0	188	420	15	3	1178	3	ACSS1	20	25003605	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1273851	25003605	38021915	4660	102517											
ABHD12	26090	broad.mit.edu	37	chr20	25290206	25290206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgttcccactgagtcacCccaacctgggagggagaaac	12	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:25290206C>T	uc002wus.1	-	7	763	c.625G>A	c.(625-627)GGT>AGT	p.G209S	ABHD12_uc002wuq.2_Missense_Mutation_p.G209S|ABHD12_uc002wur.2_Missense_Mutation_p.G209S|ABHD12_uc002wut.1_Missense_Mutation_p.G209S|ABHD12_uc002wuu.1_5'UTR	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	209	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1						ACTGAGTCACCCCAACCTGGG	0.582													T	25290206	C	T	25290206	3	4	189	1	0	0	0	0	1	0	0	0	76	623	22	4	661	4	ABHD12	20	25290206	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	286601	25290206	37735314	4661	102518											
HCK	3055	broad.mit.edu	37	chr20	30671779	30671779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatccggaccctggacaaCgggggcttctacatatcccc	10	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:30671779C>T	uc002wxh.2	+	7	786	c.615C>T	c.(613-615)AAC>AAT	p.N205N	HCK_uc010gdy.2_Silent_p.N184N|HCK_uc002wxi.2_Silent_p.N183N	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	205	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCTGGACAACGGGGGCTTCT	0.562													T	30671779	C	T	30671779	2	4	189	1	0	0	0	0	0	0	0	1	6994	535	19	1		1	HCK	20	30671779	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5381573	30671779	32353741	4662	102519											
PLAGL2	5326	broad.mit.edu	37	chr20	30785129	30785129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccactaggtgccgccgtAcatccttacgagtatagaac	9	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:30785129A>G	uc002wxn.2	-	3	834	c.617T>C	c.(616-618)GTA>GCA	p.V206A		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	206	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGCCGCCGTACATCCTTACG	0.612													G	30785129	A	G	30785129	3	3	189	1	0	0	0	0	1	0	0	0	12020	391	14	3	877	3	PLAGL2	20	30785129	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	113350	30785129	32240391	4663	102520											
PLAGL2	5326	broad.mit.edu	37	chr20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-													tgctttgcatcttgaatccaGggggggacgctggtgaaaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						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)			TCTTGAATCCAGGGGGGGACG	0.557													-	30789952	G	-	30789952	7	5	189	1	0	1	0	1	0	0	0	0	12020	987	35	0	1468	0	PLAGL2	20	30789952	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	4823	30789952	32235568	4664	102521											
KIF3B	9371	broad.mit.edu	37	chr20	30898349	30898349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggcaagccaagaccggcGcacaaggggagagattaaaa	13	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:30898349G>A	uc002wxq.2	+	2	936	c.769G>A	c.(769-771)GCA>ACA	p.A257T	KIF3B_uc010ztv.1_Missense_Mutation_p.A257T|KIF3B_uc010ztw.1_Missense_Mutation_p.A257T	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	257	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			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAAGACCGGCGCACAAGGGGA	0.512													A	30898349	G	A	30898349	3	1	189	1	0	0	0	0	1	0	0	0	8301	1087	38	1	771	1	KIF3B	20	30898349	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	108397	30898349	32127171	4665	102522											
ASXL1	171023	broad.mit.edu	37	chr20	31022395	31022395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgcaggtccgaggggCgagaggtcaccactgccata	14	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:31022395C>T	uc002wxs.2	+	12	2306	c.1880C>T	c.(1879-1881)GCG>GTG	p.A627V	ASXL1_uc010geb.2_Missense_Mutation_p.A518V	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	627					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A627fs*7(2)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GTCCGAGGGGCGAGAGGTCAC	0.706			F|N|Mis		MDS|CMML								T	31022395	C	T	31022395	3	4	189	1	0	0	0	0	1	0	0	0	1066	768	27	1	1936	1	ASXL1	20	31022395	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	124046	31022395	32003125	4666	102523											
ASXL1	171023	broad.mit.edu	37	chr20	31024833	31024833	+	Frame_Shift_Del	DEL	T	T	-													aactcagcatcaagcaggcaTtttatgggaagctttctaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:31024832_31024832AT>A	uc021wbw.1	+	12	4749	c.4317_4317AT>A	c.(4315-4317)gcafs	p.A1439fs	ASXL1_uc002wxs.3_Frame_Shift_Del_p.A1438fs|ASXL1_uc010geb.3_Frame_Shift_Del_p.A1330fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1439					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q1438*(1)|p.(574_1542)fs*?(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						TCAAGCAGGCATTTTATGGGA	0.522			"F, N, Mis"		"MDS, CMML"								-	31024833	T	-	31024833	7	5	189	1	0	1	0	1	0	0	0	0	1066	1493	52	0	4374	0	ASXL1	20	31024833	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	2438	31024833	32000687	4667	102524											
DNMT3B	1789	broad.mit.edu	37	chr20	31372648	31372648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttccgggaaaccaggactCgttcagaaagcccagctgta	10	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:31372648C>T	uc002wyc.2	+	4	610	c.289C>T	c.(289-291)CGT>TGT	p.R97C	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R97C|DNMT3B_uc002wye.2_Missense_Mutation_p.R97C|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R97C|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Missense_Mutation_p.R109C	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	97	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			lung(3)|ovary(2)	5						AACCAGGACTCGTTCAGAAAG	0.507													T	31372648	C	T	31372648	3	4	189	1	0	0	0	0	1	0	0	0	4677	884	31	1	339	1	DNMT3B	20	31372648	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	347815	31372648	31652872	4668	102525											
SUN5	140732	broad.mit.edu	37	chr20	31577472	31577472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgatgtaatctccgtgTatcatcttcattattttctg	5	8	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:31577472T>C	uc002wyi.2	-	9	660	c.567A>G	c.(565-567)ATA>ATG	p.I189M		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	189					spermatogenesis					skin(1)	1						AATCTCCGTGTATCATCTTCA	0.493													C	31577472	T	C	31577472	3	2	189	1	0	0	0	0	1	0	0	0	15391	1628	57	3	592	3	SUN5	20	31577472	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	204824	31577472	31448048	4669	102526											
C20orf186	149954	broad.mit.edu	37	chr20	31672763	31672763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccggcgtgggtgtctAcctgagcttgtacacccgtg	13	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:31672763A>G	uc010zue.1	+	4	758	c.743A>G	c.(742-744)TAC>TGC	p.Y248C		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	248						cytoplasm|extracellular region	lipid binding				0						GTGGGTGTCTACCTGAGCTTG	0.652													G	31672763	A	G	31672763	3	3	189	1	0	0	0	0	1	0	0	0	2098	391	14	3	757	3	C20orf186	20	31672763	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	95291	31672763	31352757	4670	102527											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31946924	31946924	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtctgagaactggctgaGgtgatctgaaagaaaaccag	13	6	2	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:31946924G>T	uc010gek.2	-	15	1855	c.1731C>A	c.(1729-1731)ACC>ACA	p.T577T	CDK5RAP1_uc002wyy.2_Silent_p.T473T|CDK5RAP1_uc002wyz.2_Silent_p.T563T|CDK5RAP1_uc002wza.2_Silent_p.T562T|CDK5RAP1_uc010gel.2_Silent_p.T472T|CDK5RAP1_uc010gem.2_Silent_p.T486T|CDK5RAP1_uc002wzc.1_3'UTR|CDK5RAP1_uc002wzb.1_3'UTR	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	577	CDK5R1-binding.|TRAM.				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			ovary(2)|skin(2)|lung(1)	5						AACTGGCTGAGGTGATCTGAA	0.502													T	31946924	G	T	31946924	2	4	189	1	0	0	0	0	0	0	0	1	3145	987	35	5		5	CDK5RAP1	20	31946924	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	274161	31946924	31078596	4671	102528											
SNTA1	6640	broad.mit.edu	37	chr20	32005722	32005722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacggtgagacgtccttcatAtacttgactgattgggagag	12	7	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:32005722A>G	uc002wzd.1	-	3	776	c.504T>C	c.(502-504)TAT>TAC	p.Y168Y	SNTA1_uc010zuf.1_Silent_p.Y168Y	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	168	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						CGTCCTTCATATACTTGACTG	0.498													G	32005722	A	G	32005722	2	3	189	1	0	0	0	0	0	0	0	1	14871	456	16	3		3	SNTA1	20	32005722	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	58798	32005722	31019798	4672	102529											
SNTA1	6640	broad.mit.edu	37	chr20	32026753	32026753	+	Frame_Shift_Del	DEL	A	A	-													gacaggatggcatcccccacAaaaagggcctctgtctggtc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:32026752_32026752CA>C	uc002wzd.1	-	1	663	c.391_391TG>G	c.(391-393)gtgfs	p.V131fs	SNTA1_uc010zuf.1_Frame_Shift_Del_p.V131fs	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	131	PDZ.|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						GCATCCCCCACAAAAAGGGCC	0.547													-	32026753	A	-	32026753	7	5	189	1	0	1	0	1	0	0	0	0	14871	127	5	0	1155	0	SNTA1	20	32026753	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	21031	32026753	30998767	4673	102530											
NCOA6	23054	broad.mit.edu	37	chr20	33330967	33330967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagcatcatcatcatttgTtgctgctgctgctgctgctg	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:33330967T>C	uc002xav.2	-	12	5664	c.3093A>G	c.(3091-3093)CAA>CAG	p.Q1031Q	NCOA6_uc002xaw.2_Silent_p.Q1031Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1031	NCOA1-binding region.|Gln-rich.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						TCATCATTtgttgctgctgct	0.493													C	33330967	T	C	33330967	2	2	189	1	0	0	0	0	0	0	0	1	10233	1722	60	3		3	NCOA6	20	33330967	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1304214	33330967	29694553	4674	102531											
NCOA6	23054	broad.mit.edu	37	chr20	33338001	33338001	+	Frame_Shift_Del	DEL	G	G	-													agggcccaagattttggctcGgggggttcaccatcatctgg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:33338000_33338000CG>C	uc002xav.3	-	9	4569	c.1998_1998CG>G	c.(1996-1998)ccgfs	p.P666fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P666fs|NCOA6_uc021wcd.1_Frame_Shift_Del_p.P666fs|NCOA6_uc021wce.1_Frame_Shift_Del_p.P666fs|NCOA6_uc021wcf.1_Frame_Shift_Del_p.P666fs	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	666	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|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						GATTTTGGCTCGGGGGGTTCA	0.567													-	33338001	G	-	33338001	7	5	189	1	0	1	0	1	0	0	0	0	10233	1116	39	0	4222	0	NCOA6	20	33338001	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	7034	33338001	29687519	4675	102532											
FAM83C	128876	broad.mit.edu	37	chr20	33874637	33874637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagaccattgggcccagGcccctcaccacggaatgggc	14	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:33874637G>A	uc010zux.1	-	4	2063	c.1945C>T	c.(1945-1947)CCT>TCT	p.P649S	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P304S	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	649										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGGGCCCAGGCCCCTCACCA	0.647													A	33874637	G	A	33874637	3	1	189	1	0	0	0	0	1	0	0	0	5635	1203	42	2	302	2	FAM83C	20	33874637	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	536636	33874637	29150883	4676	102533											
ERGIC3	51614	broad.mit.edu	37	chr20	34145273	34145273	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctagggaagacaacgTagtcaccctcggtgcttcct	10	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:34145273T>C	uc002xct.2	+	13	1219	c.1150T>C	c.(1150-1152)TAG>CAG	p.*384Q	ERGIC3_uc002xcs.2_Nonstop_Mutation_p.*389Q|ERGIC3_uc002xcu.2_Nonstop_Mutation_p.*399Q|ERGIC3_uc002xcv.2_Nonstop_Mutation_p.*347Q	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	384					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GAAGACAACGTAGTCACCCTC	0.592													C	34145273	T	C	34145273	4	2	189	1	0	0	0	0	0	0	0	0	5225	1651	57	3	1219	3	ERGIC3	20	34145273	Nonstop_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	270636	34145273	28880247	4677	102534											
PHF20	51230	broad.mit.edu	37	chr20	34526819	34526819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgttctgtggaggaatcctAtatcaccagtgagcattgct	11	9	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:34526819A>G	uc002xek.1	+	16	2612	c.2501A>G	c.(2500-2502)TAT>TGT	p.Y834C		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GAGGAATCCTATATCACCAGT	0.612													G	34526819	A	G	34526819	3	3	189	1	0	0	0	0	1	0	0	0	11831	449	16	3	2559	3	PHF20	20	34526819	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	381546	34526819	28498701	4678	102535											
EPB41L1	2036	broad.mit.edu	37	chr20	34773147	34773147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcaggctgagctgggTgactatgatgctgaggagca	17	7	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:34773147T>C	uc002xfb.2	+	7	846	c.675T>C	c.(673-675)GGT>GGC	p.G225G	EPB41L1_uc002xeu.2_Silent_p.G163G|EPB41L1_uc010zvo.1_Silent_p.G225G|EPB41L1_uc002xev.2_Silent_p.G225G|EPB41L1_uc002xew.2_Silent_p.G128G|EPB41L1_uc002xex.2_Silent_p.G194G|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Silent_p.G163G	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	225	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CTGAGCTGGGTGACTATGATG	0.612													C	34773147	T	C	34773147	2	2	189	1	0	0	0	0	0	0	0	1	5152	1683	59	3		3	EPB41L1	20	34773147	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	246328	34773147	28252373	4679	102536											
DLGAP4	22839	broad.mit.edu	37	chr20	35060838	35060838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagaacgcagccagccaCgctacttcatgcacgcctac	9	16	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:35060838C>T	uc002xff.2	+	3	1153	c.718C>T	c.(718-720)CGC>TGC	p.R240C	DLGAP4_uc010zvp.1_Missense_Mutation_p.R240C	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	240					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGCCAGCCACGCTACTTCAT	0.632													T	35060838	C	T	35060838	3	4	189	1	0	0	0	0	1	0	0	0	4562	536	19	1	720	1	DLGAP4	20	35060838	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	287691	35060838	27964682	4680	102537											
DLGAP4	22839	broad.mit.edu	37	chr20	35125161	35125161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccggtccctccacgcAccacttcaaagccgttcatc	6	20	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:35125161A>G	uc002xff.2	+	8	2137	c.1702A>G	c.(1702-1704)ACC>GCC	p.T568A	DLGAP4_uc010zvp.1_Missense_Mutation_p.T568A|DLGAP4_uc002xfg.2_5'UTR|DLGAP4_uc002xfh.2_Missense_Mutation_p.T29A|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'Flank	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	568					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCTCCACGCACCACTTCAAA	0.572													G	35125161	A	G	35125161	3	3	189	1	0	0	0	0	1	0	0	0	4562	159	6	3	1759	3	DLGAP4	20	35125161	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	64323	35125161	27900359	4681	102538											
SAMHD1	25939	broad.mit.edu	37	chr20	35559270	35559270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactagacatcctgctagaTaccccaccctgcagagcaaa	7	14	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:35559270T>C	uc002xgh.1	-	5	648	c.518A>G	c.(517-519)TAT>TGT	p.Y173C		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	173	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				TCCTGCTAGATACCCCACCCT	0.428													C	35559270	T	C	35559270	3	2	189	1	0	0	0	0	1	0	0	0	13828	1406	49	3	1410	3	SAMHD1	20	35559270	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	434109	35559270	27466250	4682	102539											
RBL1	5933	broad.mit.edu	37	chr20	35661170	35661170	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgttttggagaagcAccaattaatgaatgagcagt	11	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:35661170A>G	uc002xgi.2	-	16	2359	c.2280T>C	c.(2278-2280)GGT>GGC	p.G760G	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.G760G	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	760	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TTGGAGAAGCACCAATTAATG	0.403													G	35661170	A	G	35661170	2	3	189	1	0	0	0	0	0	0	0	1	13109	146	6	3		3	RBL1	20	35661170	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	101900	35661170	27364350	4683	102540											
GHRH	2691	broad.mit.edu	37	chr20	35882611	35882611	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccatgcacacacacccatAcctgtgcttctgcagcaggg	8	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:35882611A>G	uc002xgr.2	-	3	308	c.308_splice	c.e3+1	p.S103_splice	GHRH_uc002xgs.2_Splice_Site_p.S103_splice|GHRH_uc002xgt.2_Splice_Site_p.R103_splice	NM_021081	NP_066567	P01286	SLIB_HUMAN	growth hormone releasing hormone preproprotein						activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			ovary(1)	1		Myeloproliferative disorder(115;0.00878)				ACACACCCATACCTGTGCTTC	0.542													G	35882611	A	G	35882611	5	3	189	1	0	0	0	0	0	0	1	0	6372	405	14	3	24	3	GHRH	20	35882611	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	221441	35882611	27142909	4684	102541											
RPRD1B	58490	broad.mit.edu	37	chr20	36668870	36668870	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttacttttctgtattTagcgaatgatgtcatccaaa	6	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:36668870T>A	uc002xho.3	+	2	587	c.185T>A	c.(184-186)TTA>TAA	p.L62*		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Regulation of nuclear pre-mRNA domain containing	62	CID.									pancreas(1)	1						TTTCTGTATTTAGCGAATGAT	0.328													A	36668870	T	A	36668870	4	1	189	1	0	0	0	0	0	1	0	0	13616	1764	61	5	191	5	RPRD1B	20	36668870	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	786259	36668870	26356650	4685	102542											
KIAA1755	85449	broad.mit.edu	37	chr20	36869609	36869609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttccttagttccagcTatctcctctagtgccccaga	8	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:36869609T>C	uc002xhy.1	-	3	1196	c.924A>G	c.(922-924)ATA>ATG	p.I308M	KIAA1755_uc002xhz.1_Missense_Mutation_p.I308M	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	308										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				TAGTTCCAGCTATCTCCTCTA	0.512													C	36869609	T	C	36869609	3	2	189	1	0	0	0	0	1	0	0	0	8257	1512	53	3	2726	3	KIAA1755	20	36869609	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	200739	36869609	26155911	4686	102543											
RALGAPB	57148	broad.mit.edu	37	chr20	37203485	37203486	+	Frame_Shift_Ins	INS	-	-	C													ggaaagtgactcctacagtcINSccccccatgtccgccggaaa					rs138886522	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:37203484_37203485T>TC	uc002xiw.3	+	29	4616_4617	c.4359_4360T>TC	c.(4357-4362)agtcccfs	p.S1453fs	RALGAPB_uc002xix.3_Frame_Shift_Ins_p.S1450fs|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Frame_Shift_Ins_p.S1232fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1453					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization 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						ACTCCTACAGTCCCCCCCATGT	0.431													C	37203486	-	C	37203485	7	5	189	1	0	1	1	0	0	0	0	0	13015	855	30	0	4474	0	RALGAPB	20	37203485	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	333876	37203485	25822035	4687	102544											
SLC32A1	140679	broad.mit.edu	37	chr20	37357038	37357038	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtcgtcttcacgctgcTcatggccatttatgtgccgc	10	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:37357038T>G	uc002xjc.2	+	2	1597	c.1334T>G	c.(1333-1335)CTC>CGC	p.L445R		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	445	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCACGCTGCTCATGGCCATT	0.672													G	37357038	T	G	37357038	3	3	189	1	0	0	0	0	1	0	0	0	14565	1551	54	5	1340	5	SLC32A1	20	37357038	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	153553	37357038	25668482	4688	102545											
PPP1R16B	26051	broad.mit.edu	37	chr20	37531369	37531369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagcagcagatgattgcGgacatccactgcatgatcgc	11	12	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:37531369G>A	uc002xje.2	+	6	819	c.630G>A	c.(628-630)GCG>GCA	p.A210A	PPP1R16B_uc010ggc.2_Silent_p.A210A	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	210					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGATGATTGCGGACATCCACT	0.562													A	37531369	G	A	37531369	2	1	189	1	0	0	0	0	0	0	0	1	12366	1103	39	1		1	PPP1R16B	20	37531369	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	174331	37531369	25494151	4689	102546											
DHX35	60625	broad.mit.edu	37	chr20	37620999	37620999	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttctctttgattcttagTgtcatcatgctggatgaagc	9	8	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:37620999T>C	uc002xjh.2	+	7	524	c.513T>C	c.(511-513)AGT>AGC	p.S171S	DHX35_uc010zwa.1_Silent_p.S16S|DHX35_uc010zwb.1_Silent_p.S16S|DHX35_uc010zwc.1_Silent_p.S140S	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	171	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TGATTCTTAGTGTCATCATGC	0.428													C	37620999	T	C	37620999	2	2	189	1	0	0	0	0	0	0	0	1	4508	1710	59	3		3	DHX35	20	37620999	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	89630	37620999	25404521	4690	102547											
LPIN3	64900	broad.mit.edu	37	chr20	39976200	39976200	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccatttgcaggtagacatTgagctcaatggggagcctgt	12	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:39976200T>C	uc002xjx.2	+	3	292	c.201T>C	c.(199-201)ATT>ATC	p.I67I	LPIN3_uc010ggh.2_Silent_p.I67I|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	67	N-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				AGGTAGACATTGAGCTCAATG	0.448													C	39976200	T	C	39976200	2	2	189	1	0	0	0	0	0	0	0	1	8920	1800	63	3		3	LPIN3	20	39976200	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2355201	39976200	23049320	4691	102548											
EMILIN3	90187	broad.mit.edu	37	chr20	39990405	39990405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactggctgacagagtcacTgaggcctgtgagcgacttgc	14	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:39990405T>C	uc002xjy.1	-	4	2028	c.1804A>G	c.(1804-1806)AGT>GGT	p.S602G		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	602						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				ACAGAGTCACTGAGGCCTGTG	0.582													C	39990405	T	C	39990405	3	2	189	1	0	0	0	0	1	0	0	0	5095	1580	55	3	500	3	EMILIN3	20	39990405	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	14205	39990405	23035115	4692	102549											
EMILIN3	90187	broad.mit.edu	37	chr20	39992288	39992288	+	Frame_Shift_Del	DEL	G	G	-													gcagactcaccatgagggctGggggctgctctgctgtagga							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:39992287_39992287TG>T	uc002xjy.1	-	2	729	c.505_505CA>A	c.(505-507)agcfs	p.S169fs		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	169						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)				CCATGAGGGCTGGGGGCTGCT	0.657													-	39992288	G	-	39992288	7	5	189	1	0	1	0	1	0	0	0	0	5095	1335	47	0	1804	0	EMILIN3	20	39992288	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	1883	39992288	23033232	4693	102550											
CHD6	84181	broad.mit.edu	37	chr20	40044014	40044014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaagtccatgccaagggCtccctgaagtgaactgatag	11	10	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:40044014C>T	uc002xka.1	-	34	6929	c.6751G>A	c.(6751-6753)GCC>ACC	p.A2251T	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2251					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				ATGCCAAGGGCTCCCTGAAGT	0.567													T	40044014	C	T	40044014	3	4	189	1	0	0	0	0	1	0	0	0	3329	797	28	2	1412	2	CHD6	20	40044014	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	51726	40044014	22981506	4694	102551											
PTPRT	11122	broad.mit.edu	37	chr20	40747089	40747089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacgatgctggcggagTtctcctgccagatcattctc	10	13	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:40747089T>C	uc002xkg.2	-	21	3120	c.2936A>G	c.(2935-2937)AAC>AGC	p.N979S	PTPRT_uc010ggj.2_Missense_Mutation_p.N998S|PTPRT_uc010ggi.2_Missense_Mutation_p.N182S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	979	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTGGCGGAGTTCTCCTGCCA	0.542													C	40747089	T	C	40747089	3	2	189	1	0	0	0	0	1	0	0	0	12812	1725	60	3	1433	3	PTPRT	20	40747089	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	703075	40747089	22278431	4695	102552											
L3MBTL	26013	broad.mit.edu	37	chr20	42169672	42169672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcatcttcaggaaggAaaaggcatcctggagacagg	12	8	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:42169672A>G	uc010zwh.1	+	22	2473	c.2427A>G	c.(2425-2427)GGA>GGG	p.G809G	L3MBTL_uc002xkl.2_Silent_p.G741G|L3MBTL_uc002xkm.2_3'UTR|L3MBTL_uc010ggl.2_3'UTR|L3MBTL_uc002xkn.1_Intron|L3MBTL_uc002xko.2_3'UTR|L3MBTL_uc002xkp.2_Silent_p.G129G|SGK2_uc002xkq.1_Intron	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	Error:Variant_position_missing_in_Q9Y468_after_alignment					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCAGGAAGGAAAAGGCATCC	0.483													G	42169672	A	G	42169672	2	3	189	1	0	0	0	0	0	0	0	1	8591	233	9	3		3	L3MBTL	20	42169672	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1422583	42169672	20855848	4696	102553											
SGK2	10110	broad.mit.edu	37	chr20	42203604	42203604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgagcagtggactggtGgtgcttgggggcagtcctct	17	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:42203604G>T	uc002xkv.2	+	9	1052	c.833G>T	c.(832-834)TGG>TTG	p.W278L	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.W218L|SGK2_uc010ggm.2_Missense_Mutation_p.W218L|SGK2_uc002xks.2_Missense_Mutation_p.W217L|SGK2_uc002xku.2_Missense_Mutation_p.W218L	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	278	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			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTGGACTGGTGGTGCTTGGGG	0.488													T	42203604	G	T	42203604	3	4	189	1	0	0	0	0	1	0	0	0	14209	1357	47	5	867	5	SGK2	20	42203604	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	33932	42203604	20821916	4697	102554											
MYBL2	4605	broad.mit.edu	37	chr20	42315583	42315583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagcagtgccgtgaacGctggcacaaccacctcaacc	12	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:42315583G>A	uc002xlb.1	+	5	586	c.371G>A	c.(370-372)CGC>CAC	p.R124H	MYBL2_uc010zwj.1_Missense_Mutation_p.R100H|MYBL2_uc002xla.1_Missense_Mutation_p.R124H	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	124	H-T-H motif (By similarity).|HTH myb-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGCCGTGAACGCTGGCACAAC	0.582													A	42315583	G	A	42315583	3	1	189	1	0	0	0	0	1	0	0	0	10010	1087	38	1	389	1	MYBL2	20	42315583	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	111979	42315583	20709937	4698	102555											
GTSF1L	149699	broad.mit.edu	37	chr20	42355289	42355289	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctgctgagtgggattcGgtggtgaggatcataagggc	17	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:42355289G>A	uc002xld.2	-	1	354	c.46C>T	c.(46-48)CGA>TGA	p.R16*	GTSF1L_uc002xlc.2_Nonsense_Mutation_p.R16*	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like isoform 1	16	CHHC-type.						metal ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTGGGATTCGGTGGTGAGGA	0.483													A	42355289	G	A	42355289	4	1	189	1	0	0	0	0	0	1	0	0	6887	1124	39	1	404	1	GTSF1L	20	42355289	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	39706	42355289	20670231	4699	102556											
TTPAL	79183	broad.mit.edu	37	chr20	43109032	43109032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcttccgggttcctcacCgtgctgccccacactgaccc	8	19	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:43109032C>T	uc002xmc.1	+	3	517	c.393C>T	c.(391-393)ACC>ACT	p.T131T	TTPAL_uc002xmd.1_Silent_p.T131T|TTPAL_uc010ggr.1_Missense_Mutation_p.P9L	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	131	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						GGTTCCTCACCGTGCTGCCCC	0.557													T	43109032	C	T	43109032	2	4	189	1	0	0	0	0	0	0	0	1	16734	639	23	1		1	TTPAL	20	43109032	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	753743	43109032	19916488	4700	102557											
ADA	100	broad.mit.edu	37	chr20	43257798	43257798	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtgttagctgggagggcGatccctctcctcctggaaac	13	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:43257798G>A	uc002xmj.2	-	3	236	c.108C>T	c.(106-108)ATC>ATT	p.I36I	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	36					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTGGGAGGGCGATCCCTCTCC	0.597									Adenosine_Deaminase_Deficiency				A	43257798	G	A	43257798	2	1	189	1	0	0	0	0	0	0	0	1	230	1048	37	1		1	ADA	20	43257798	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	148766	43257798	19767722	4701	102558											
UBE2C	11065	broad.mit.edu	37	chr20	44442079	44442079	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatactcttttttcaggctAcagcaggagctgatgaccct	9	10	2	2	rs150351110		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:44442079A>G	uc002xpm.2	+	2	185	c.105A>G	c.(103-105)CTA>CTG	p.L35L	UBE2C_uc002xpl.2_Silent_p.L35L|UBE2C_uc002xpn.2_5'UTR|UBE2C_uc002xpo.2_Silent_p.L35L|UBE2C_uc002xpp.2_Silent_p.L35L|UBE2C_uc002xpq.2_5'UTR	NM_007019	NP_008950	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C isoform 1	35					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Myeloproliferative disorder(115;0.0122)				TTTTCAGGCTACAGCAGGAGC	0.527													G	44442079	A	G	44442079	2	3	189	1	0	0	0	0	0	0	0	1	16843	378	14	3		3	UBE2C	20	44442079	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1184281	44442079	18583441	4702	102559											
ZNF335	63925	broad.mit.edu	37	chr20	44578447	44578447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagtagctcacctggttgtCggaggtcaccaggtgctgta	13	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:44578447C>T	uc002xqw.2	-	24	3784	c.3661G>A	c.(3661-3663)GAC>AAC	p.D1221N	ZNF335_uc002xqv.2_Missense_Mutation_p.D333N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1066N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1221	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ACCTGGTTGTCGGAGGTCACC	0.552													T	44578447	C	T	44578447	3	4	189	1	0	0	0	0	1	0	0	0	17849	884	31	1	387	1	ZNF335	20	44578447	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	136368	44578447	18447073	4703	102560											
SULF2	55959	broad.mit.edu	37	chr20	46295229	46295229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggacatagctggccttgTactctgtgggcattagagga	14	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:46295229T>C	uc002xto.2	-	12	1910	c.1580A>G	c.(1579-1581)TAC>TGC	p.Y527C	SULF2_uc002xtr.2_Missense_Mutation_p.Y527C|SULF2_uc002xtq.2_Missense_Mutation_p.Y527C|SULF2_uc010zyd.1_5'Flank	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	527					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			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GCTGGCCTTGTACTCTGTGGG	0.637													C	46295229	T	C	46295229	3	2	189	1	0	0	0	0	1	0	0	0	15370	1638	57	3	1072	3	SULF2	20	46295229	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1716782	46295229	16730291	4704	102561											
ZNFX1	57169	broad.mit.edu	37	chr20	47868143	47868143	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaaaaggcgggcaattTcagggcacatacggtgctga	15	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:47868143T>G	uc002xui.2	-	13	3480	c.3233A>C	c.(3232-3234)GAA>GCA	p.E1078A		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1078							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGGGCAATTTCAGGGCACAT	0.428													G	47868143	T	G	47868143	3	3	189	1	0	0	0	0	1	0	0	0	18202	1783	62	5	2531	5	ZNFX1	20	47868143	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1572914	47868143	15157377	4705	102562											
ZNFX1	57169	broad.mit.edu	37	chr20	47887946	47887946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctgtggctgttctgTaggcttctggtggggagtcc	16	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:47887946T>C	uc002xui.2	-	3	650	c.403A>G	c.(403-405)ACA>GCA	p.T135A		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	135							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTGTTCTGTAGGCTTCTGG	0.522													C	47887946	T	C	47887946	3	2	189	1	0	0	0	0	1	0	0	0	18202	1638	57	3	5401	3	ZNFX1	20	47887946	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	19803	47887946	15137574	4706	102563											
B4GALT5	9334	broad.mit.edu	37	chr20	48256242	48256242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcgtcatcttctccaCcccaaccccagaaagcatta	6	15	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:48256242C>T	uc002xuu.3	-	7	1084	c.890G>A	c.(889-891)GGT>GAT	p.G297D		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	297	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ATCTTCTCCACCCCAACCCCA	0.438													T	48256242	C	T	48256242	3	4	189	1	0	0	0	0	1	0	0	0	1274	507	18	4	288	4	B4GALT5	20	48256242	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	368296	48256242	14769278	4707	102564											
PTPN1	5770	broad.mit.edu	37	chr20	49184937	49184937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctttgcctaacacatgCggtcacttttgggagatggt	12	10	1	1	rs143550876	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:49184937C>T	uc002xvl.2	+	4	450	c.276C>T	c.(274-276)TGC>TGT	p.C92C	PTPN1_uc010zys.1_Silent_p.C19C	NM_002827	NP_002818	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type	92	Tyrosine-protein phosphatase.				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				0		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTAACACATGCGGTCACTTTT	0.488													T	49184937	C	T	49184937	2	4	189	1	0	0	0	0	0	0	0	1	12779	776	27	1		1	PTPN1	20	49184937	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	928695	49184937	13840583	4708	102565											
PTPN1	5770	broad.mit.edu	37	chr20	49196293	49196293	+	Frame_Shift_Del	DEL	C	C	-													gagcccccacccgagcatatCcccccacctccccggccacc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:49196292_49196292TC>T	uc002xvl.3	+	7	1091	c.917_917TC>T	c.(916-918)atcfs	p.I306fs	PTPN1_uc010zys.2_Frame_Shift_Del_p.I233fs	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	306					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)	CCCGAGCATATCCCCCCACCT	0.567											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	49196293	C	-	49196293	7	5	189	1	0	1	0	1	0	0	0	0	12779	845	30	0	948	0	PTPN1	20	49196293	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	11356	49196293	13829227	4709	102566											
FAM65C	140876	broad.mit.edu	37	chr20	49247292	49247292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgcgatcctccggctctgTgcactgctgaagcctgcgaa	11	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:49247292T>C	uc002xvm.2	-	2	411	c.93A>G	c.(91-93)GCA>GCG	p.A31A	FAM65C_uc010zyt.1_Silent_p.A35A|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.A31A	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	31										ovary(2)	2						TCCGGCTCTGTGCACTGCTGA	0.662													C	49247292	T	C	49247292	2	2	189	1	0	0	0	0	0	0	0	1	5601	1683	59	3		3	FAM65C	20	49247292	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	50999	49247292	13778228	4710	102567											
PARD6B	84612	broad.mit.edu	37	chr20	49366647	49366647	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctcatcataacagtgagAccggcaaaccagaggaataa	8	10	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:49366647A>G	uc002xvo.2	+	3	984	c.741A>G	c.(739-741)AGA>AGG	p.R247R		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	247	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				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			kidney(1)	1						TAACAGTGAGACCGGCAAACC	0.443													G	49366647	A	G	49366647	2	3	189	1	0	0	0	0	0	0	0	1	11446	272	10	3		3	PARD6B	20	49366647	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	119355	49366647	13658873	4711	102568											
ADNP	23394	broad.mit.edu	37	chr20	49509799	49509799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgctagtaaaattgtgTattttcataatgtagttggc	8	4	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:49509799T>C	uc002xvt.1	-	5	1797	c.1452A>G	c.(1450-1452)ATA>ATG	p.I484M	ADNP_uc002xvu.1_Missense_Mutation_p.I484M	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	484						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TAAAATTGTGTATTTTCATAA	0.373													C	49509799	T	C	49509799	3	2	189	1	0	0	0	0	1	0	0	0	323	1628	57	3	1860	3	ADNP	20	49509799	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	143152	49509799	13515721	4712	102569											
ADNP	23394	broad.mit.edu	37	chr20	49520468	49520468	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaacccaatgtcactaagTatttttttcacagttttccg	4	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:49520468T>A	uc002xvt.1	-	3	411	c.66A>T	c.(64-66)ATA>ATT	p.I22I	ADNP_uc002xvu.1_Silent_p.I22I	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TGTCACTAAGTATTTTTTTCA	0.318													A	49520468	T	A	49520468	2	1	189	1	0	0	0	0	0	0	0	1	323	1628	57	5		5	ADNP	20	49520468	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	10669	49520468	13505052	4713	102570											
KCNG1	3755	broad.mit.edu	37	chr20	49626525	49626525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcccccgggttgcggtcGaagaagaactcgttgcaggt	15	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:49626525G>A	uc002xwa.3	-	2	646	c.351C>T	c.(349-351)TTC>TTT	p.F117F	KCNG1_uc002xwb.2_Silent_p.F117F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	117	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GGTTGCGGTCGAAGAAGAACT	0.647													A	49626525	G	A	49626525	2	1	189	1	0	0	0	0	0	0	0	1	8027	1049	37	1		1	KCNG1	20	49626525	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	106057	49626525	13398995	4714	102571											
NFATC2	4773	broad.mit.edu	37	chr20	50140511	50140511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctgcggccctaccctaTccggctctccgaatcggccg	9	18	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:50140511T>C	uc002xwd.2	-	2	489	c.269A>G	c.(268-270)GAT>GGT	p.D90G	NFATC2_uc002xwc.2_Missense_Mutation_p.D90G|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.D70G|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.D70G	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	90					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			ovary(2)	2	Hepatocellular(150;0.248)					CCCTACCCTATCCGGCTCTCC	0.647													C	50140511	T	C	50140511	3	2	189	1	0	0	0	0	1	0	0	0	10362	1435	50	3	2592	3	NFATC2	20	50140511	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	513986	50140511	12885009	4715	102572											
ZFP64	55734	broad.mit.edu	37	chr20	50705146	50705146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtccttccggctgaagCacttgtcacagaactcacac	9	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:50705146C>T	uc002xwk.2	-	8	1362	c.1013G>A	c.(1012-1014)TGC>TAC	p.C338Y	ZFP64_uc002xwj.2_Missense_Mutation_p.C119Y	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCGGCTGAAGCACTTGTCACA	0.493													T	50705146	C	T	50705146	3	4	189	1	0	0	0	0	1	0	0	0	17649	710	25	2	932	2	ZFP64	20	50705146	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	564635	50705146	12320374	4716	102573											
TSHZ2	128553	broad.mit.edu	37	chr20	51870983	51870983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcgtttttgatgtcaatcGgccgtgttcccccgattcaa	9	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:51870983G>T	uc002xwo.2	+	2	1942	c.986G>T	c.(985-987)CGG>CTG	p.R329L		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	329					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GATGTCAATCGGCCGTGTTCC	0.463													T	51870983	G	T	51870983	3	4	189	1	0	0	0	0	1	0	0	0	16621	1116	39	5	992	5	TSHZ2	20	51870983	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1165837	51870983	11154537	4717	102574											
ZNF217	7764	broad.mit.edu	37	chr20	52192756	52192756	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgtcttatccggtgcAggggaaacactggttttagg	12	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:52192756A>C	uc002xwq.3	-	3	2818	c.2547T>G	c.(2545-2547)CCT>CCG	p.P849P	ZNF217_uc010gij.1_Silent_p.P841P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	849					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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			TATCCGGTGCAGGGGAAACAC	0.522													C	52192756	A	C	52192756	2	2	189	1	0	0	0	0	0	0	0	1	17769	175	7	5		5	ZNF217	20	52192756	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	321773	52192756	10832764	4718	102575											
BMP7	655	broad.mit.edu	37	chr20	55758796	55758796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccacgttggccatccGcagggcttcctggttcttgg	12	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:55758796G>A	uc010gip.1	-	4	1469	c.940C>T	c.(940-942)CGG>TGG	p.R314W	BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Missense_Mutation_p.R314W	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	314					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTGGCCATCCGCAGGGCTTCC	0.647													A	55758796	G	A	55758796	3	1	189	1	0	0	0	0	1	0	0	0	1465	1086	38	1	371	1	BMP7	20	55758796	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3566040	55758796	7266724	4719	102576											
SPO11	23626	broad.mit.edu	37	chr20	55913380	55913380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttttagtcaagaaactgTgggatacatttcatgttcct	8	7	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:55913380T>C	uc002xye.2	+	9	886	c.793T>C	c.(793-795)TGG>CGG	p.W265R	SPO11_uc002xyf.2_Missense_Mutation_p.W227R	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	265					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	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)			CAAGAAACTGTGGGATACATT	0.318								Editing_and_processing_nucleases					C	55913380	T	C	55913380	3	2	189	1	0	0	0	0	1	0	0	0	15076	1696	59	3	827	3	SPO11	20	55913380	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	154584	55913380	7112140	4720	102577											
PMEPA1	56937	broad.mit.edu	37	chr20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-													ctgatgcccgagttactgctGggggggcaggggccgcccag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:56227348_56227348TG>T	uc002xyq.3	-	3	1018	c.625_625CA>A	c.(625-627)agcfs	p.S209fs	PMEPA1_uc002xyr.3_Frame_Shift_Del_p.S159fs|PMEPA1_uc002xys.3_Frame_Shift_Del_p.S174fs|PMEPA1_uc002xyt.3_Frame_Shift_Del_p.S159fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	209					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						GAGTTACTGCTGGGGGGGCAG	0.687													-	56227349	G	-	56227349	7	5	189	1	0	1	0	1	0	0	0	0	12132	1335	47	0	243	0	PMEPA1	20	56227349	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	313969	56227349	6798171	4721	102578											
GNAS	2778	broad.mit.edu	37	chr20	57485796	57485796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccctcatttcacctgcgCtgtggacactgagaacatcc	7	15	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:57485796C>A	uc002xzw.2	+	13	3311	c.3026C>A	c.(3025-3027)GCT>GAT	p.A1009D	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.A307D|GNAS_uc002xzx.2_Missense_Mutation_p.A307D|GNAS_uc010gjr.2_Missense_Mutation_p.A257D|GNAS_uc002xzy.2_Missense_Mutation_p.A292D|GNAS_uc002yaa.2_Missense_Mutation_p.A352D|GNAS_uc010zzt.1_Missense_Mutation_p.A367D|GNAS_uc002yab.2_RNA|GNAS_uc002yad.2_Missense_Mutation_p.A257D|GNAS_uc002yae.2_Missense_Mutation_p.A291D	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	366		GTP; via amide nitrogen (By similarity).	A -> S (in AHO; paradoxical combination of AHO and testotoxicosis; constitutively activates adenylyl cyclase in vitro; accounts for the testotoxicosis phenotype; mutant form is quite stable at testis temperature; rapidly degraded at 37 degrees explaining the AHO phenotype caused by loss of Gs activity).		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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTCACCTGCGCTGTGGACACT	0.572			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57485796	C	A	57485796	3	1	189	1	0	0	0	0	1	0	0	0	6510	797	28	5	3964	5	GNAS	20	57485796	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1258447	57485796	5539724	4722	102579											
TH1L	51497	broad.mit.edu	37	chr20	57561870	57561870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttatctgaaaactacaccGctgtggcccagactgtgaac	8	12	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:57561870G>A	uc002yag.2	+	3	292	c.265G>A	c.(265-267)GCT>ACT	p.A89T	TH1L_uc010zzu.1_Missense_Mutation_p.A89T|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.A89T	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	89					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			AAACTACACCGCTGTGGCCCA	0.488													A	57561870	G	A	57561870	3	1	189	1	0	0	0	0	1	0	0	0	15836	1087	38	1	275	1	TH1L	20	57561870	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	76074	57561870	5463650	4723	102580											
TH1L	51497	broad.mit.edu	37	chr20	57568057	57568057	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgccttaactgtaggtttCcagtggtagcaatgggtgtg	13	7	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:57568057C>G	uc002yag.2	+	11	1288	c.1261C>G	c.(1261-1263)CCA>GCA	p.P421A	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.P421A	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	421					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			CTGTAGGTTTCCAGTGGTAGC	0.403													G	57568057	C	G	57568057	3	3	189	1	0	0	0	0	1	0	0	0	15836	855	30	5	1303	5	TH1L	20	57568057	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	6187	57568057	5457463	4724	102581											
EDN3	1908	broad.mit.edu	37	chr20	57896192	57896193	+	Frame_Shift_Ins	INS	-	-	G													acttgcgctgcgcttgtgtgINSgggagatatgacaaggcctg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:57896191_57896192T>TG	uc002yap.3	+	2	854_855	c.485_486T>TG	c.(484-486)gtgfs	p.V162fs	EDN3_uc002yao.1_Frame_Shift_Ins_p.V162fs|EDN3_uc002yaq.3_Frame_Shift_Ins_p.V162fs|EDN3_uc002yar.3_Frame_Shift_Ins_p.V162fs|EDN3_uc002yas.3_Frame_Shift_Ins_p.V162fs	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	162	Endothelin-like.				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|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	p.V162A(3)		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)					TGCGCTTGTGTGGGGAGATATG	0.554													G	57896193	-	G	57896192	7	5	189	1	0	1	1	0	0	0	0	0	4918	1335	47	0	496	0	EDN3	20	57896192	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	328135	57896192	5129328	4725	102582											
PHACTR3	116154	broad.mit.edu	37	chr20	58330282	58330282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatggaggaccccgatctgTacagagtgaaccacccactc	10	14	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:58330282T>C	uc002yau.2	+	4	871	c.404T>C	c.(403-405)GTA>GCA	p.V135A	PHACTR3_uc002yat.2_Missense_Mutation_p.V132A|PHACTR3_uc010zzw.1_Missense_Mutation_p.V94A|PHACTR3_uc002yav.2_Missense_Mutation_p.V94A|PHACTR3_uc002yaw.2_Missense_Mutation_p.V94A|PHACTR3_uc002yax.2_Missense_Mutation_p.V94A	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	135						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCGATCTGTACAGAGTGAA	0.582													C	58330282	T	C	58330282	3	2	189	1	0	0	0	0	1	0	0	0	11811	1638	57	3	418	3	PHACTR3	20	58330282	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	434090	58330282	4695238	4726	102583											
SYCP2	10388	broad.mit.edu	37	chr20	58467121	58467121	+	Frame_Shift_Del	DEL	T	T	-													cttttctatgactttgcacaTttttgctagcagatggattt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:58467120_58467120AT>A	uc002yaz.3	-	22	2428	c.2289_2289AT>T	c.(2287-2289)aatfs	p.N763fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	763					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)			GACTTTGCACATTTTTGCTAG	0.323													-	58467121	T	-	58467121	7	5	189	1	0	1	0	1	0	0	0	0	15429	1493	52	0	2392	0	SYCP2	20	58467121	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	136839	58467121	4558399	4727	102584											
CDH4	1002	broad.mit.edu	37	chr20	60509183	60509183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcaaagcccctggcgtgCgtcgcgtggatgagcggccg	16	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:60509183C>T	uc002ybn.1	+	15	2463	c.2449C>T	c.(2449-2451)CGT>TGT	p.R817C	CDH4_uc002ybp.1_Missense_Mutation_p.R743C	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	817	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCTGGCGTGCGTCGCGTGGA	0.682													T	60509183	C	T	60509183	3	4	189	1	0	0	0	0	1	0	0	0	3112	768	27	1	2507	1	CDH4	20	60509183	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2042062	60509183	2516337	4728	102585											
PSMA7	5688	broad.mit.edu	37	chr20	60714246	60714246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcccattgctctgcGtataacgctagcaagaaaag	10	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:60714246G>A	uc002ybx.1	-	4	471	c.356C>T	c.(355-357)ACG>ATG	p.T119M	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	119					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	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATTGCTCTGCGTATAACGCTA	0.488													A	60714246	G	A	60714246	3	1	189	1	0	0	0	0	1	0	0	0	12672	1145	40	1	406	1	PSMA7	20	60714246	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	205063	60714246	2311274	4729	102586											
LAMA5	3911	broad.mit.edu	37	chr20	60885488	60885488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagacctaaagtgataacTcccccgctgcctgggaagaa	9	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:60885488T>C	uc002ycq.2	-	76	10654	c.10587A>G	c.(10585-10587)GGA>GGG	p.G3529G		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3529	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTGATAACTCCCCCGCTGC	0.692													C	60885488	T	C	60885488	2	2	189	1	0	0	0	0	0	0	0	1	8609	1538	54	3		3	LAMA5	20	60885488	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	171242	60885488	2140032	4730	102587											
LAMA5	3911	broad.mit.edu	37	chr20	60890201	60890201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggactgcacacgggTggcggtgtcctgggcttcag	17	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:60890201T>C	uc002ycq.2	-	59	7997	c.7930A>G	c.(7930-7932)ACC>GCC	p.T2644A		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2644	Potential.|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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCACACGGGTGGCGGTGTCC	0.672													C	60890201	T	C	60890201	3	2	189	1	0	0	0	0	1	0	0	0	8609	1696	59	3	3245	3	LAMA5	20	60890201	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4713	60890201	2135319	4731	102588											
NTSR1	4923	broad.mit.edu	37	chr20	61341218	61341218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgacggccagcacgccgGcggcctggtgtgcaccccca	14	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:61341218G>A	uc002ydf.2	+	1	1030	c.659G>A	c.(658-660)GGC>GAC	p.G220D		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	220	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CAGCACGCCGGCGGCCTGGTG	0.672													A	61341218	G	A	61341218	3	1	189	1	0	0	0	0	1	0	0	0	10710	1203	42	2	661	2	NTSR1	20	61341218	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	451017	61341218	1684302	4732	102589											
DIDO1	11083	broad.mit.edu	37	chr20	61525226	61525226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggtcctggggtcccggcCggacactgtgacggtggtga	18	11	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:61525226C>A	uc002ydr.1	-	12	3157	c.2893G>T	c.(2893-2895)GGC>TGC	p.G965C	DIDO1_uc002yds.1_Missense_Mutation_p.G965C|DIDO1_uc002ydt.1_Missense_Mutation_p.G965C|DIDO1_uc002ydu.1_Missense_Mutation_p.G965C	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	965					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGGTCCCGGCCGGACACTGTG	0.682													A	61525226	C	A	61525226	3	1	189	1	0	0	0	0	1	0	0	0	4522	652	23	5	3878	5	DIDO1	20	61525226	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	184008	61525226	1500294	4733	102590											
PTK6	5753	broad.mit.edu	37	chr20	62163998	62163998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccgcagcttcttcatgGcctggatctccgactgcagc	11	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:62163998G>T	uc002yfg.2	-	5	753	c.713C>A	c.(712-714)GCC>GAC	p.A238D	PTK6_uc011aay.1_Missense_Mutation_p.A137D|PTK6_uc011aaz.1_5'UTR	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	238	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CTTCTTCATGGCCTGGATCTC	0.652													T	62163998	G	T	62163998	3	4	189	1	0	0	0	0	1	0	0	0	12764	1203	42	5	658	5	PTK6	20	62163998	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	638772	62163998	861522	4734	102591											
PRIC285	85441	broad.mit.edu	37	chr20	62200870	62200870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaacgaggcagcctgcacaCgcactcccacctggaagtcg	11	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:62200870C>T	uc002yfm.2	-	5	1611	c.719G>A	c.(718-720)CGT>CAT	p.R240H	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	240					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGCCTGCACACGCACTCCCAC	0.672													T	62200870	C	T	62200870	3	4	189	1	0	0	0	0	1	0	0	0	12485	536	19	1	7317	1	PRIC285	20	62200870	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	36872	62200870	824650	4735	102592											
GMEB2	26205	broad.mit.edu	37	chr20	62250679	62250679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccctccacaccactgccGtccactgcagtgtccggagt	8	19	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:62250679G>A	uc002yfp.1	-	1	551	c.72C>T	c.(70-72)GAC>GAT	p.D24D	GMEB2_uc002yfq.1_Silent_p.D24D	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	24				DGSGVEGVKTVLVTTNLAPHG -> CPAGCALRDPDSILSS LHFTR (in Ref. 6).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	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)			CACCACTGCCGTCCACTGCAG	0.647													A	62250679	G	A	62250679	2	1	189	1	0	0	0	0	0	0	0	1	6488	1136	40	1		1	GMEB2	20	62250679	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	49809	62250679	774841	4736	102593											
PCMTD2	55251	broad.mit.edu	37	chr20	62904640	62904640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcaccattaaaaagaTtattcatcaggaaactgtga	9	8	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr20:62904640T>C	uc002yil.3	+	6	973	c.773T>C	c.(772-774)ATT>ACT	p.I258T	PCMTD2_uc002yim.3_Missense_Mutation_p.I231T	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	258						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATTAAAAAGATTATTCATCAG	0.512													C	62904640	T	C	62904640	3	2	189	1	0	0	0	0	1	0	0	0	11587	1493	52	3	791	3	PCMTD2	20	62904640	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	653961	62904640	120880	4737	102594											
TPTE	7179	broad.mit.edu	37	chr21	10916386	10916386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacgaggaatcgaataaatAatgaagtgttttataaagag	9	2	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:10916386A>G	uc002yip.1	-	20	1628	c.1260T>C	c.(1258-1260)ATT>ATC	p.I420I	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.I402I|TPTE_uc002yir.1_Silent_p.I382I|TPTE_uc010gkv.1_Silent_p.I282I	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	420	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		TCGAATAAATAATGAAGTGTT	0.383													G	10916386	A	G	10916386	2	3	189	1	0	0	0	0	0	0	0	1	16427	358	13	3		3	TPTE	21	10916386	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08		10916386	37213509	4738	102595											
TPTE	7179	broad.mit.edu	37	chr21	10971316	10971316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggggccgagctcaatgAtgactcccgccaggtcagtc	12	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:10971316A>C	uc002yip.1	-	5	409	c.41T>G	c.(40-42)ATC>AGC	p.I14S	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I14S|TPTE_uc002yir.1_Missense_Mutation_p.I14S|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	14					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		GAGCTCAATGATGACTCCCGC	0.323													C	10971316	A	C	10971316	3	2	189	1	0	0	0	0	1	0	0	0	16427	333	12	5	1694	5	TPTE	21	10971316	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	54930	10971316	37158579	4739	102596											
HSPA13	6782	broad.mit.edu	37	chr21	15746385	15746385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggcagttcagtgtcactActgtgaggttccttcctgtc	10	10	2	1	rs138306035	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:15746385A>G	uc002yjt.2	-	5	1038	c.969T>C	c.(967-969)AGT>AGC	p.S323S	HSPA13_uc011abx.1_Silent_p.S115S	NM_006948	NP_008879	P48723	HSP13_HUMAN	heat shock protein 70kDa family member 13	323						endoplasmic reticulum|microsome	ATP binding			kidney(1)	1						CAGTGTCACTACTGTGAGGTT	0.448													G	15746385	A	G	15746385	2	3	189	1	0	0	0	0	0	0	0	1	7406	388	14	3		3	HSPA13	21	15746385	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	4775069	15746385	32383510	4740	102597											
USP25	29761	broad.mit.edu	37	chr21	17191087	17191087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgggttcaaagatctgcaTgagtgcctagaagctgcaat	11	7	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:17191087T>C	uc002yjy.1	+	10	1219	c.1002T>C	c.(1000-1002)CAT>CAC	p.H334H	USP25_uc011aby.1_Silent_p.H334H|USP25_uc002yjz.1_Silent_p.H334H|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	334					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				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)		AAGATCTGCATGAGTGCCTAG	0.358													C	17191087	T	C	17191087	2	2	189	1	0	0	0	0	0	0	0	1	17053	1461	51	3		3	USP25	21	17191087	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1444702	17191087	30938808	4741	102598											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666595	19666595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacactcacccatacacGcagtgtgcggcggacaccag	9	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:19666595G>A	uc002ykw.2	-	21	2509	c.2478C>T	c.(2476-2478)TGC>TGT	p.C826C		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	826	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						ACCCATACACGCAGTGTGCGG	0.582													A	19666595	G	A	19666595	2	1	189	1	0	0	0	0	0	0	0	1	16243	1079	38	1		1	TMPRSS15	21	19666595	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2475508	19666595	28463300	4742	102599											
GABPA	2551	broad.mit.edu	37	chr21	27136558	27136558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagtgcaatctgctacAcctactaccattaaagttat	5	11	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:27136558A>G	uc002ylx.3	+	8	1367	c.840A>G	c.(838-840)ACA>ACG	p.T280T	GABPA_uc002yly.3_Silent_p.T280T	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	280					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			ovary(1)|central_nervous_system(1)	2						AATCTGCTACACCTACTACCA	0.383													G	27136558	A	G	27136558	2	3	189	1	0	0	0	0	0	0	0	1	6157	146	6	3		3	GABPA	21	27136558	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7469963	27136558	20993337	4743	102600											
CYYR1	116159	broad.mit.edu	37	chr21	27938613	27938613	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attcccaatataagcgtagtAggagcaacagtagggcgtgg	13	7	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:27938613A>T	uc002ymd.2	-	2	470	c.148T>A	c.(148-150)TAC>AAC	p.Y50N	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.Y50N	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	50	Extracellular (Potential).					integral to membrane					0						TAAGCGTAGTAGGAGCAACAG	0.423													T	27938613	A	T	27938613	3	4	189	1	0	0	0	0	1	0	0	0	4211	420	15	5	328	5	CYYR1	21	27938613	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	802055	27938613	20191282	4744	102601											
ADAMTS5	11096	broad.mit.edu	37	chr21	28315800	28315800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagacattaagcgcttaTcttctgtggaaccaaaggtc	10	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:28315800T>C	uc002ymg.2	-	3	2033	c.1304A>G	c.(1303-1305)GAT>GGT	p.D435G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	435	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TAAGCGCTTATCTTCTGTGGA	0.453													C	28315800	T	C	28315800	3	2	189	1	0	0	0	0	1	0	0	0	269	1435	50	3	1512	3	ADAMTS5	21	28315800	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	377187	28315800	19814095	4745	102602											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338270	28338270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgagacccccacagagGtcaaagacagccagagagcg	12	14	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:28338270G>A	uc002ymg.2	-	1	1170	c.441C>T	c.(439-441)GAC>GAT	p.D147D		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	147					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CCCCACAGAGGTCAAAGACAG	0.677													A	28338270	G	A	28338270	2	1	189	1	0	0	0	0	0	0	0	1	269	1252	44	4		4	ADAMTS5	21	28338270	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	22470	28338270	19791625	4746	102603											
RWDD2B	10069	broad.mit.edu	37	chr21	30380115	30380115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacaggcactttgtgggCcttccacacaaacaacacca	6	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:30380115C>T	uc002yms.2	-	4	779	c.692G>A	c.(691-693)GGC>GAC	p.G231D	RWDD2B_uc002ymt.2_Missense_Mutation_p.G202D|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.G151D	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	231											0						ACTTTGTGGGCCTTCCACACA	0.363													T	30380115	C	T	30380115	3	4	189	1	0	0	0	0	1	0	0	0	13756	739	26	2	275	2	RWDD2B	21	30380115	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2041845	30380115	17749780	4747	102604											
RWDD2B	10069	broad.mit.edu	37	chr21	30380209	30380209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattctttcttttgcattTgttatagatatgatggctgt	7	4	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:30380209T>C	uc002yms.2	-	4	685	c.598A>G	c.(598-600)AAA>GAA	p.K200E	RWDD2B_uc002ymt.2_Missense_Mutation_p.K171E|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.K120E	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	200											0						CTTTTGCATTTGTTATAGATA	0.463													C	30380209	T	C	30380209	3	2	189	1	0	0	0	0	1	0	0	0	13756	1821	63	3	369	3	RWDD2B	21	30380209	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	94	30380209	17749686	4748	102605											
BACH1	571	broad.mit.edu	37	chr21	30693734	30693734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtggagggacagcggTtccgcgctcaccggtccgtg	15	12	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:30693734T>C	uc002ynj.2	+	2	248	c.133T>C	c.(133-135)TTC>CTC	p.F45L	BACH1_uc002ynk.2_Missense_Mutation_p.F45L|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	45	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						GGGACAGCGGTTCCGCGCTCA	0.517													C	30693734	T	C	30693734	3	2	189	1	0	0	0	0	1	0	0	0	1283	1725	60	3	135	3	BACH1	21	30693734	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	313525	30693734	17436161	4749	102606											
BACH1	571	broad.mit.edu	37	chr21	30698571	30698571	+	Frame_Shift_Del	DEL	A	A	-													gaccagcaagaatgcccaagAaaaaaatgcttttcatcaca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:30698570_30698570GA>G	uc002ynk.3	+	2	668	c.425_425GA>G	c.(424-426)agafs	p.R142fs	BACH1_uc002ynj.3_Frame_Shift_Del_p.R142fs|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	142						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAATGCCCAAGAAAAAAATGC	0.378													-	30698571	A	-	30698571	7	5	189	1	0	1	0	1	0	0	0	0	1283	243	9	0	432	0	BACH1	21	30698571	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	4837	30698571	17431324	4750	102607											
GRIK1	2897	broad.mit.edu	37	chr21	30961219	30961219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcattctgggccccataTttgccatcgggaactagttt	9	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:30961219T>C	uc002yno.1	-	11	1973	c.1509A>G	c.(1507-1509)AAA>AAG	p.K503K	GRIK1_uc002ynn.2_Silent_p.K488K|GRIK1_uc011acs.1_Silent_p.K503K|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Silent_p.K346K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	503	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGGCCCCATATTTGCCATCGG	0.373													C	30961219	T	C	30961219	2	2	189	1	0	0	0	0	0	0	0	1	6773	1490	52	3		3	GRIK1	21	30961219	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	262648	30961219	17168676	4751	102608											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654914	31654914	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctggggctggggcTgacgttggtagtttcacaga	17	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:31654914T>A	uc002ynv.2	-	1	363	c.337A>T	c.(337-339)AGC>TGC	p.S113C		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	113						keratin filament	structural molecule activity				0						gggctggggctgacgttggTA	0.408													A	31654914	T	A	31654914	3	1	189	1	0	0	0	0	1	0	0	0	8542	1580	55	5	431	5	KRTAP24-1	21	31654914	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	693695	31654914	16474981	4752	102609											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812780	31812781	+	Frame_Shift_Del	DEL	CT	CT	-													aatacctgccaactgggctcCtctctctacaatggctgtca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:31812779_31812780CCT>C	uc002yod.3	+	0	134_135	c.134_135CCT>C	c.(133-135)tccfs	p.S45fs		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	45						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CAACTGGGCTCCTCTCTCTACA	0.49													-	31812781	CT	-	31812780	7	5	189	1	0	1	0	1	0	0	0	0	8526	668	24	0	137	0	KRTAP15-1	21	31812780	Frame_Shift_Del	DEL	CT	TCGA-CG-5721-01A-11D-1600-08	157866	31812780	16317115	4753	102610											
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119274	32119274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtagtgatgattagtAgcaagaggaatagcatcttc	11	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:32119274A>G	uc011adh.1	-	1	247	c.247T>C	c.(247-249)TAC>CAC	p.Y83H		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	83						intermediate filament					0						GATGATTAGTAGCAAGAGGAA	0.343													G	32119274	A	G	32119274	3	3	189	1	0	0	0	0	1	0	0	0	8539	420	15	3	6	3	KRTAP21-2	21	32119274	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	306494	32119274	16010621	4754	102611											
SFRS15	57466	broad.mit.edu	37	chr21	33057462	33057462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgctgtcaccagactcGgcgtttcctctagccccaga	8	16	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:33057462G>A	uc002ypd.2	-	19	2814	c.2388C>T	c.(2386-2388)GCC>GCT	p.A796A	SFRS15_uc002ype.2_Silent_p.A774A|SFRS15_uc010glu.2_Silent_p.A781A|SFRS15_uc002ypf.1_Silent_p.A470A	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	796						nucleus	nucleotide binding|RNA binding				0						CACCAGACTCGGCGTTTCCTC	0.498													A	33057462	G	A	33057462	2	1	189	1	0	0	0	0	0	0	0	1	14171	1103	39	1		1	SFRS15	21	33057462	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	938188	33057462	15072433	4755	102612											
HUNK	30811	broad.mit.edu	37	chr21	33346910	33346910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcgtcgtgctgcacatgAccgagaagctgggttacaag	14	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:33346910A>G	uc002yph.2	+	7	1414	c.1054A>G	c.(1054-1056)ACC>GCC	p.T352A		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	352					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						GCTGCACATGACCGAGAAGCT	0.557													G	33346910	A	G	33346910	3	3	189	1	0	0	0	0	1	0	0	0	7458	275	10	3	1080	3	HUNK	21	33346910	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	289448	33346910	14782985	4756	102613											
MRAP	56246	broad.mit.edu	37	chr21	33686877	33686877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctttaacacagatgaAtctcttctgcattcagaagt	6	9	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:33686877A>G	uc002ypk.2	+	5	409	c.222A>G	c.(220-222)GAA>GAG	p.E74E	URB1_uc002ypn.2_3'UTR	NM_206898	NP_996781	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	Error:Variant_position_missing_in_Q8TCY5_after_alignment					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				0						ACACAGATGAATCTCTTCTGC	0.388													G	33686877	A	G	33686877	2	3	189	1	0	0	0	0	0	0	0	1	9753	98	4	3		3	MRAP	21	33686877	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	339967	33686877	14443018	4757	102614											
C21orf59	56683	broad.mit.edu	37	chr21	33976433	33976433	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccactcacaaactacgtAcctgtgttcccgacaagtct	5	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:33976433A>G	uc002yqc.2	-	4	647	c.534_splice	c.e4+1	p.Q178_splice	C21orf59_uc002ypx.1_Splice_Site_p.Q71_splice|C21orf59_uc002ypy.1_Splice_Site_p.Q178_splice|C21orf59_uc002ypz.1_Splice_Site_p.Q178_splice|C21orf59_uc010glx.2_Splice_Site_p.Q79_splice|C21orf59_uc002yqd.2_Splice_Site_p.Q178_splice|C21orf59_uc002yqa.3_Intron|C21orf59_uc002yqb.3_Splice_Site_p.Q178_splice|C21orf59_uc011adr.1_Splice_Site_p.Q122_splice	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683							cytosol|nucleus					0						CAAACTACGTACCTGTGTTCC	0.507													G	33976433	A	G	33976433	5	3	189	1	0	0	0	0	0	0	1	0	2130	405	14	3	352	3	C21orf59	21	33976433	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	289556	33976433	14153462	4758	102615											
IFNAR1	3454	broad.mit.edu	37	chr21	34727754	34727754	+	Frame_Shift_Del	DEL	A	A	-													atcaaactgatgaagatcatAaaaaatacagttcccaaact							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:34727753_34727753TA>T	uc002yrn.3	+	10	1719	c.1572_1572TA>T	c.(1570-1572)catfs	p.H524fs	IFNAR1_uc011adv.2_Frame_Shift_Del_p.H455fs	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	524					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)	ATGAAGATCATAAAAAATACA	0.313													-	34727754	A	-	34727754	7	5	189	1	0	1	0	1	0	0	0	0	7544	363	13	0	1615	0	IFNAR1	21	34727754	Frame_Shift_Del	DEL	A	TCGA-CG-5721-01A-11D-1600-08	751321	34727754	13402141	4759	102616											
GART	2618	broad.mit.edu	37	chr21	34876757	34876757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccagtaactgtgactcCggtttccagggcttgctcat	10	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:34876757C>T	uc002yrx.2	-	21	2938	c.2803G>A	c.(2803-2805)GGA>AGA	p.G935R	GART_uc002yrz.2_Missense_Mutation_p.G935R|GART_uc010gmd.2_Missense_Mutation_p.G597R|GART_uc002yry.2_Missense_Mutation_p.G935R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	935	GART.				'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			ovary(1)	1					Pemetrexed(DB00642)	ACTGTGACTCCGGTTTCCAGG	0.398													T	34876757	C	T	34876757	3	4	189	1	0	0	0	0	1	0	0	0	6243	661	23	1	237	1	GART	21	34876757	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	149003	34876757	13253138	4760	102617											
SON	6651	broad.mit.edu	37	chr21	34922190	34922190	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcagaactgtcagttgtatCtacatcagtaatctcagagc	8	9	4	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:34922190C>A	uc002yse.1	+	3	702	c.653C>A	c.(652-654)TCT>TAT	p.S218Y	SON_uc002ysb.1_Missense_Mutation_p.S218Y|SON_uc002ysc.2_Missense_Mutation_p.S218Y|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	218					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			ovary(4)|skin(2)	6						TCAGTTGTATCTACATCAGTA	0.458											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	34922190	C	A	34922190	3	1	189	1	0	0	0	0	1	0	0	0	14926	913	32	5	663	5	SON	21	34922190	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	45433	34922190	13207705	4761	102618											
SON	6651	broad.mit.edu	37	chr21	34927628	34927628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaagaaggtttagcagaTctcccatccgtcgtaaaaga	9	8	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:34927628T>C	uc002yse.1	+	3	6140	c.6091T>C	c.(6091-6093)TCT>CCT	p.S2031P	SON_uc002ysb.1_Missense_Mutation_p.S2031P|SON_uc002ysc.2_Missense_Mutation_p.S2031P|SON_uc002ysd.2_Missense_Mutation_p.S1022P|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S1022P	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	2031	3 X tandem repeats of [ST]-P-[VLI]-R- [RL]-[RK]-[RF]-S-R.				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			ovary(4)|skin(2)	6						GTTTAGCAGATCTCCCATCCG	0.433													C	34927628	T	C	34927628	3	2	189	1	0	0	0	0	1	0	0	0	14926	1435	50	3	6101	3	SON	21	34927628	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5438	34927628	13202267	4762	102619											
SON	6651	broad.mit.edu	37	chr21	34931991	34931991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcggaaaaaagaagcggaTagtgtttatggagaatgggt	14	3	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:34931991T>C	uc002yse.1	+	6	6616	c.6567T>C	c.(6565-6567)GAT>GAC	p.D2189D	SON_uc002ysc.2_Silent_p.D2189D|SON_uc002ysd.2_Silent_p.D1180D|SON_uc002ysf.1_Silent_p.D217D|SON_uc002ysg.2_Silent_p.D1180D	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	2189					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			ovary(4)|skin(2)	6						AAGAAGCGGATAGTGTTTATG	0.398													C	34931991	T	C	34931991	2	2	189	1	0	0	0	0	0	0	0	1	14926	1403	49	3		3	SON	21	34931991	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4363	34931991	13197904	4763	102620											
MRPS6	64968	broad.mit.edu	37	chr21	35497669	35497669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctactttgaaacgtaCgatagaggccctgatggaca	11	9	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:35497669C>T	uc002ytp.2	+	2	252	c.74C>T	c.(73-75)ACG>ATG	p.T25M		NM_032476	NP_115865	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	25					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			skin(1)	1						TTGAAACGTACGATAGAGGCC	0.423													T	35497669	C	T	35497669	3	4	189	1	0	0	0	0	1	0	0	0	9847	536	19	1	80	1	MRPS6	21	35497669	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	565678	35497669	12632226	4764	102621											
TTC3	7267	broad.mit.edu	37	chr21	38538528	38538528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgccagcatacataaacGtgttaccaggtttgccccag	8	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:38538528G>A	uc002yvz.2	+	33	4117	c.4012G>A	c.(4012-4014)GTG>ATG	p.V1338M	TTC3_uc011aee.1_Missense_Mutation_p.V1028M|TTC3_uc002ywa.2_Missense_Mutation_p.V1338M|TTC3_uc002ywb.2_Missense_Mutation_p.V1338M|TTC3_uc010gnf.2_Missense_Mutation_p.V1103M|TTC3_uc002ywc.2_Missense_Mutation_p.V1028M|TTC3_uc002ywd.1_Missense_Mutation_p.V402M	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1338					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				ATACATAAACGTGTTACCAGG	0.468													A	38538528	G	A	38538528	3	1	189	1	0	0	0	0	1	0	0	0	16694	1145	40	1	4138	1	TTC3	21	38538528	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	3040859	38538528	9591367	4765	102622											
TTC3	7267	broad.mit.edu	37	chr21	38538886	38538886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaccagtgcagtaacaaAcattccacacgtgcagatgg	9	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:38538886A>G	uc002yvz.2	+	33	4475	c.4370A>G	c.(4369-4371)AAC>AGC	p.N1457S	TTC3_uc011aee.1_Missense_Mutation_p.N1147S|TTC3_uc002ywa.2_Missense_Mutation_p.N1457S|TTC3_uc002ywb.2_Missense_Mutation_p.N1457S|TTC3_uc010gnf.2_Missense_Mutation_p.N1222S|TTC3_uc002ywc.2_Missense_Mutation_p.N1147S|TTC3_uc002ywd.1_Missense_Mutation_p.N521S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1457					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GCAGTAACAAACATTCCACAC	0.368													G	38538886	A	G	38538886	3	3	189	1	0	0	0	0	1	0	0	0	16694	43	2	3	4496	3	TTC3	21	38538886	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	358	38538886	9591009	4766	102623											
DYRK1A	1859	broad.mit.edu	37	chr21	38862610	38862610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctaacacgaaagtttgcGcaacagatgtgcactgcact	8	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:38862610G>A	uc002ywk.2	+	6	873	c.798G>A	c.(796-798)GCG>GCA	p.A266A	DYRK1A_uc002ywi.2_Silent_p.A266A|DYRK1A_uc002ywj.2_Silent_p.A257A|DYRK1A_uc002ywl.2_Silent_p.A266A|DYRK1A_uc002ywm.2_Silent_p.A266A|DYRK1A_uc011aei.1_Silent_p.A27A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	266	Protein kinase.			A -> V (in Ref. 6; CAA05059).	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			ovary(2)|lung(1)|breast(1)	4						GAAAGTTTGCGCAACAGATGT	0.413													A	38862610	G	A	38862610	2	1	189	1	0	0	0	0	0	0	0	1	4854	1074	38	1		1	DYRK1A	21	38862610	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	323724	38862610	9267285	4767	102624											
KCNJ15	3772	broad.mit.edu	37	chr21	39671215	39671215	+	Frame_Shift_Del	DEL	C	C	-													tcacatcggcatgtccagcaCccccctggtgaagcacactg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:39671214_39671214AC>A	uc021wjc.1	+	0	31	c.31_31AC>A	c.(31-33)accfs	p.T11fs	KCNJ15_uc002ywv.3_Frame_Shift_Del_p.T11fs|KCNJ15_uc002yww.3_Frame_Shift_Del_p.T11fs|KCNJ15_uc002ywx.3_Frame_Shift_Del_p.T11fs	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	11					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						CATGTCCAGCACCCCCCTGGT	0.527													-	39671215	C	-	39671215	7	5	189	1	0	1	0	1	0	0	0	0	8049	507	18	0	34	0	KCNJ15	21	39671215	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	808605	39671215	8458680	4768	102625											
KCNJ15	3772	broad.mit.edu	37	chr21	39671704	39671704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcgccagacccaaaaagcGggctgagaccatcaagttca	9	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:39671704G>A	uc002ywv.2	+	4	823	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	KCNJ15_uc002yww.2_Missense_Mutation_p.R174Q|KCNJ15_uc002ywx.2_Missense_Mutation_p.R174Q	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	174	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						CCCAAAAAGCGGGCTGAGACC	0.507													A	39671704	G	A	39671704	3	1	189	1	0	0	0	0	1	0	0	0	8049	1116	39	1	523	1	KCNJ15	21	39671704	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	489	39671704	8458191	4769	102626											
BRWD1	54014	broad.mit.edu	37	chr21	40578152	40578152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagaagagattttctTcattttttcttcaaataagg	5	5	5	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:40578152T>C	uc002yxk.1	-	37	4385	c.4246A>G	c.(4246-4248)AAG>GAG	p.K1416E	BRWD1_uc010goc.1_Missense_Mutation_p.K59E|BRWD1_uc002yxl.2_Missense_Mutation_p.K1416E|BRWD1_uc010god.1_Missense_Mutation_p.K334E	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGATTTTCTTCATTTTTTCT	0.303													C	40578152	T	C	40578152	3	2	189	1	0	0	0	0	1	0	0	0	1525	1792	62	3	2979	3	BRWD1	21	40578152	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	906448	40578152	7551743	4770	102627											
DSCAM	1826	broad.mit.edu	37	chr21	41457677	41457677	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccatcaatcgttactagActgggtgtcccgttactgcc	9	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:41457677A>G	uc002yyq.1	-	23	4436	c.3984T>C	c.(3982-3984)AGT>AGC	p.S1328S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1328	Extracellular (Potential).|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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGTTACTAGACTGGGTGTCC	0.453													G	41457677	A	G	41457677	2	3	189	1	0	0	0	0	0	0	0	1	4768	272	10	3		3	DSCAM	21	41457677	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	879525	41457677	6672218	4771	102628											
FAM3B	54097	broad.mit.edu	37	chr21	42710359	42710359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactccctgcccatctgacaCctatgcctacaggttactca	6	16	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:42710359C>G	uc002yzb.1	+	3	364	c.218C>G	c.(217-219)ACC>AGC	p.T73S	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Missense_Mutation_p.T25S|FAM3B_uc002yzd.1_Missense_Mutation_p.T96S|FAM3B_uc011aeq.1_Missense_Mutation_p.T87S	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	73					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCATCTGACACCTATGCCTAC	0.443													G	42710359	C	G	42710359	3	3	189	1	0	0	0	0	1	0	0	0	5557	507	18	5	228	5	FAM3B	21	42710359	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1252682	42710359	5419536	4772	102629											
MX2	4600	broad.mit.edu	37	chr21	42780121	42780121	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccggctcactcaggcgcgAcacgcactctgtcaattctc	8	16	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:42780121A>G	uc002yzf.1	+	14	2213	c.2109A>G	c.(2107-2109)CGA>CGG	p.R703R	MX2_uc002yzg.1_Silent_p.R426R|MX2_uc010gop.1_Silent_p.R185R	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	703	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCAGGCGCGACACGCACTCT	0.498													G	42780121	A	G	42780121	2	3	189	1	0	0	0	0	0	0	0	1	9998	262	10	3		3	MX2	21	42780121	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	69762	42780121	5349774	4773	102630											
RIPK4	54101	broad.mit.edu	37	chr21	43161503	43161503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgcgggccacgcggTagtgcccgcgctgtgcggcc	18	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:43161503T>C	uc002yzn.1	-	8	1898	c.1850A>G	c.(1849-1851)TAC>TGC	p.Y617C		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	617						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						GGCCACGCGGTAGTGCCCGCG	0.687													C	43161503	T	C	43161503	3	2	189	1	0	0	0	0	1	0	0	0	13383	1638	57	3	508	3	RIPK4	21	43161503	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	381382	43161503	4968392	4774	102631											
RIPK4	54101	broad.mit.edu	37	chr21	43169342	43169342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcttctgtgtgagcacGccccagatgacgatcgcaaa	11	12	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:43169342G>A	uc002yzn.1	-	4	693	c.645C>T	c.(643-645)GGC>GGT	p.G215G		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	215						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						GTGTGAGCACGCCCCAGATGA	0.517													A	43169342	G	A	43169342	2	1	189	1	0	0	0	0	0	0	0	1	13383	1074	38	1		1	RIPK4	21	43169342	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7839	43169342	4960553	4775	102632											
PKNOX1	5316	broad.mit.edu	37	chr21	44448901	44448901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaaaactgctcagaAccggccagttcagaggtttt	9	8	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:44448901A>G	uc002zcq.1	+	10	1204	c.1016A>G	c.(1015-1017)AAC>AGC	p.N339S	PKNOX1_uc002zcp.1_Missense_Mutation_p.N339S|PKNOX1_uc011aex.1_Missense_Mutation_p.N222S	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	339							sequence-specific DNA binding			large_intestine(2)	2						ACTGCTCAGAACCGGCCAGTT	0.512													G	44448901	A	G	44448901	3	3	189	1	0	0	0	0	1	0	0	0	11982	43	2	3	1050	3	PKNOX1	21	44448901	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1279559	44448901	3680994	4776	102633											
SIK1	150094	broad.mit.edu	37	chr21	44840207	44840207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggtgtagctgtgtgcGgagaaggcggggcaggcggg	23	5	0	1	rs138160311	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:44840207G>A	uc002zdf.2	-	8	1006	c.879C>T	c.(877-879)TCC>TCT	p.S293S		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	293					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			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						AGCTGTGTGCGGAGAAGGCGG	0.692													A	44840207	G	A	44840207	2	1	189	1	0	0	0	0	0	0	0	1	14317	1103	39	1		1	SIK1	21	44840207	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	391306	44840207	3289688	4777	102634											
HSF2BP	11077	broad.mit.edu	37	chr21	45050308	45050308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctccattgtttgaccagTgatgctgaaaaacttcaaag	7	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:45050308T>C	uc002zdi.2	-	6	801	c.469A>G	c.(469-471)ACT>GCT	p.T157A	HSF2BP_uc011aey.1_Missense_Mutation_p.T82A	NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	157					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.18)		GTTTGACCAGTGATGCTGAAA	0.388													C	45050308	T	C	45050308	3	2	189	1	0	0	0	0	1	0	0	0	7397	1696	59	3	551	3	HSF2BP	21	45050308	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	210101	45050308	3079587	4778	102635											
PDXK	8566	broad.mit.edu	37	chr21	45163690	45163690	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccccaggctggtgtacggTaggcaggggcccaccctcgg	15	14	0	0	rs111245794		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:45163690T>C	uc002zdm.3	+	4	529	c.331_splice	c.e4+2	p.V111_splice	PDXK_uc010gpj.2_Splice_Site_p.V111_splice|PDXK_uc002zdn.3_Intron|PDXK_uc002zdq.3_Splice_Site_p.V38_splice	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase						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				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TGGTGTACGGTAGGCAGGGGC	0.632													C	45163690	T	C	45163690	5	2	189	1	0	0	0	0	0	0	1	0	11697	1652	57	3	347	3	PDXK	21	45163690	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	113382	45163690	2966205	4779	102636											
TRAPPC10	7109	broad.mit.edu	37	chr21	45509730	45509730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgtcgattgactgccCgtggtccatctactccacag	10	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:45509730C>T	uc002zea.2	+	18	2955	c.2786C>T	c.(2785-2787)CCG>CTG	p.P929L	TRAPPC10_uc010gpo.2_Missense_Mutation_p.P640L|TRAPPC10_uc011afa.1_Missense_Mutation_p.P307L|TRAPPC10_uc011afb.1_Missense_Mutation_p.P34L	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	929					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						ATTGACTGCCCGTGGTCCATC	0.592													T	45509730	C	T	45509730	3	4	189	1	0	0	0	0	1	0	0	0	16454	652	23	1	2856	1	TRAPPC10	21	45509730	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	346040	45509730	2620165	4780	102637											
C21orf29	54084	broad.mit.edu	37	chr21	45941907	45941907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaactcccagtcgtaggcGccggaggtggcgatggtctg	16	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:45941907G>A	uc002zfe.1	-	9	1491	c.1425C>T	c.(1423-1425)GGC>GGT	p.G475G	C21orf29_uc010gpv.1_Silent_p.G407G	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	475	EAR 4.				cell adhesion	extracellular region	structural molecule activity				0						AGTCGTAGGCGCCGGAGGTGG	0.602													A	45941907	G	A	45941907	2	1	189	1	0	0	0	0	0	0	0	1	2124	1074	38	1		1	C21orf29	21	45941907	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	432177	45941907	2187988	4781	102638											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971060	45971060	+	Frame_Shift_Del	DEL	G	G	-													acgcagcaggcctgctggcaGggggaggaggtgcagcaagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:45971059_45971059AG>A	uc002zfi.1	-	0	330	c.283_283CT>T	c.(283-285)tgcfs	p.C95fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	95	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GCCTGCTGGCAGGGGGAGGAG	0.672													-	45971060	G	-	45971060	7	5	189	1	0	1	0	1	0	0	0	0	8509	987	35	0	489	0	KRTAP10-2	21	45971060	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	29153	45971060	2158835	4782	102639											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978566	45978566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggagtcagagtaagcGctggagcagacggacatggt	16	8	1	2	rs144613025	by1000genomes	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:45978566G>A	uc002zfj.1	-	1	78	c.33C>T	c.(31-33)AGC>AGT	p.S11S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	keratin associated protein 10-3	11						keratin filament				skin(1)	1						CAGAGTAAGCGCTGGAGCAGA	0.577													A	45978566	G	A	45978566	2	1	189	1	0	0	0	0	0	0	0	1	8510	1078	38	1		1	KRTAP10-3	21	45978566	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	7506	45978566	2151329	4783	102640											
UBE2G2	7327	broad.mit.edu	37	chr21	46208000	46208000	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaattccttccggaggattCagtgttaattctataaaatt	6	7	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:46208000C>T	uc002zfy.2	-	2	129	c.54G>A	c.(52-54)CTG>CTA	p.L18L	UBE2G2_uc002zfx.2_5'UTR	NM_003343	NP_003334	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2 isoform 1	18					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)	4				Colorectal(79;0.0638)		CCGGAGGATTCAGTGTTAATT	0.279													T	46208000	C	T	46208000	2	4	189	1	0	0	0	0	0	0	0	1	16854	813	29	4		4	UBE2G2	21	46208000	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	229434	46208000	1921895	4784	102641											
ITGB2	3689	broad.mit.edu	37	chr21	46323290	46323290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctcaccaatgcggccGgactcggtgatctcgttgag	14	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:46323290G>A	uc002zgd.2	-	4	533	c.489C>T	c.(487-489)TCC>TCT	p.S163S	ITGB2_uc002zge.2_Silent_p.S163S|ITGB2_uc002zgf.3_Silent_p.S163S|ITGB2_uc011afl.1_Silent_p.S85S|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Silent_p.S163S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	163	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CAATGCGGCCGGACTCGGTGA	0.597													A	46323290	G	A	46323290	2	1	189	1	0	0	0	0	0	0	0	1	7894	1103	39	1		1	ITGB2	21	46323290	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	115290	46323290	1806605	4785	102642			1	49		3	3	80	N	T_G	8.124288e-05
ITGB2	3689	broad.mit.edu	37	chr21	46323305	46323305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggactcggtgatctcGttgagggcccggagcaggtc	17	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:46323305G>A	uc002zgd.2	-	4	518	c.474C>T	c.(472-474)AAC>AAT	p.N158N	ITGB2_uc002zge.2_Silent_p.N158N|ITGB2_uc002zgf.3_Silent_p.N158N|ITGB2_uc011afl.1_Silent_p.N80N|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Silent_p.N158N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	158	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGTGATCTCGTTGAGGGCCC	0.592													A	46323305	G	A	46323305	2	1	189	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	ITGB2	21	46323305	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	15	46323305	1806590	4786	102643			1	49		3	3	80	N	T_G	8.124288e-05
ITGB2	3689	broad.mit.edu	37	chr21	46323369	46323369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcatcaagcatggagTaggagaggtccatcagatag	14	6	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:46323369T>C	uc002zgd.2	-	4	454	c.410A>G	c.(409-411)TAC>TGC	p.Y137C	ITGB2_uc002zge.2_Missense_Mutation_p.Y137C|ITGB2_uc002zgf.3_Missense_Mutation_p.Y137C|ITGB2_uc011afl.1_Missense_Mutation_p.Y59C|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Missense_Mutation_p.Y137C	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	137	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	AAGCATGGAGTAGGAGAGGTC	0.617													C	46323369	T	C	46323369	3	2	189	1	0	0	0	0	1	0	0	0	7894	1638	57	3	1947	3	ITGB2	21	46323369	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	64	46323369	1806526	4787	102644			1	49		3	3	80	N	T_G	8.124288e-05
MCM3AP	8888	broad.mit.edu	37	chr21	47676879	47676879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcctcagtttcttgcgGgctgtgacagcttccctcca	11	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:47676879G>A	uc002zir.1	-	17	3792	c.3756C>T	c.(3754-3756)GCC>GCT	p.A1252A	MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Silent_p.A179A	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1252					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					GTTTCTTGCGGGCTGTGACAG	0.587													A	47676879	G	A	47676879	2	1	189	1	0	0	0	0	0	0	0	1	9388	1219	43	4		4	MCM3AP	21	47676879	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1353510	47676879	453016	4788	102645											
MCM3AP	8888	broad.mit.edu	37	chr21	47704983	47704983	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtttgggtgaaccctAatgtttgcactgaagaggaa	13	5	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:47704983A>G	uc002zir.1	-	1	254	c.218T>C	c.(217-219)TTA>TCA	p.L73S	C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	73					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					GGTGAACCCTAATGTTTGCAC	0.488													G	47704983	A	G	47704983	3	3	189	1	0	0	0	0	1	0	0	0	9388	372	13	3	5836	3	MCM3AP	21	47704983	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	28104	47704983	424912	4789	102646											
PCNT	5116	broad.mit.edu	37	chr21	47786508	47786508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccgcaggtttttagaGgaacgtaaagagatcaccga	12	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:47786508G>T	uc002zji.3	+	15	2726	c.2619G>T	c.(2617-2619)GAG>GAT	p.E873D	PCNT_uc002zjj.2_Missense_Mutation_p.E755D	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	873					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGTTTTTAGAGGAACGTAAAG	0.512													T	47786508	G	T	47786508	3	4	189	1	0	0	0	0	1	0	0	0	11590	991	35	5	2677	5	PCNT	21	47786508	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	81525	47786508	343387	4790	102647											
PCNT	5116	broad.mit.edu	37	chr21	47822252	47822252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttaatgaaaggttttggActtaaaagaacagctagaaa	9	3	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:47822252A>G	uc002zji.3	+	27	5077	c.4970A>G	c.(4969-4971)GAC>GGC	p.D1657G	PCNT_uc002zjj.2_Missense_Mutation_p.D1539G	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1657	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AAGGTTTTGGACTTAAAAGAA	0.244													G	47822252	A	G	47822252	3	3	189	1	0	0	0	0	1	0	0	0	11590	275	10	3	5076	3	PCNT	21	47822252	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	35744	47822252	307643	4791	102648											
PRMT2	3275	broad.mit.edu	37	chr21	48080764	48080764	+	Frame_Shift_Del	DEL	T	T	-													gatctttagcagttaaggagTttttttcaaagcccaagtat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr21:48080763_48080763GT>G	uc002zjx.3	+	8	1183	c.849_849GT>G	c.(847-849)gagfs	p.E283fs	PRMT2_uc002zjy.3_Frame_Shift_Del_p.E283fs|PRMT2_uc010gqm.3_Intron|PRMT2_uc011aga.2_Intron|PRMT2_uc011agb.2_Intron|PRMT2_uc011agc.2_Intron|PRMT2_uc002zjz.1_Frame_Shift_Del_p.E169fs	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	283					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)		CAGTTAAGGAGTTTTTTTCAA	0.433													-	48080764	T	-	48080764	7	5	189	1	0	1	0	1	0	0	0	0	12537	1725	60	0	876	0	PRMT2	21	48080764	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	258512	48080764	49131	4792	102649											
POTEH	23784	broad.mit.edu	37	chr22	16279249	16279249	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttgattaaaaatttcAccacttgctgtttttgctca	4	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:16279249A>G	uc010gqp.2	-	4	1026	c.974T>C	c.(973-975)GTG>GCG	p.V325A	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.V44A|POTEH_uc002zlj.1_Missense_Mutation_p.V160A	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	325	ANK 5.									skin(1)	1						TAAAAATTTCACCACTTGCTG	0.328													G	16279249	A	G	16279249	3	3	189	1	0	0	0	0	1	0	0	0	12267	159	6	3	691	3	POTEH	22	16279249	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08		16279249	35025317	4793	102650											
IL17RA	23765	broad.mit.edu	37	chr22	17590314	17590314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcacccccatggcGtctcctgacctccttccaga	9	18	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:17590314G>A	uc002zly.2	+	13	2338	c.2205G>A	c.(2203-2205)GCG>GCA	p.A735A	IL17RA_uc010gqt.2_Silent_p.A683A	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	735	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCCCATGGCGTCTCCTGACC	0.682													A	17590314	G	A	17590314	2	1	189	1	0	0	0	0	0	0	0	1	7639	1132	40	1		1	IL17RA	22	17590314	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1311065	17590314	33714252	4794	102651											
CECR5	27440	broad.mit.edu	37	chr22	17619200	17619200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcgttgccttctgcaggTactggtggaacaggttggcg	15	9	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:17619200T>C	uc002zmf.2	-	8	1011	c.983A>G	c.(982-984)TAC>TGC	p.Y328C	CECR5_uc002zmd.2_Missense_Mutation_p.Y139C|CECR5_uc002zme.2_Missense_Mutation_p.Y120C|CECR5_uc002zmg.2_Missense_Mutation_p.Y128C|CECR5_uc002zmh.2_Missense_Mutation_p.Y298C	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	328							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTTCTGCAGGTACTGGTGGAA	0.572													C	17619200	T	C	17619200	3	2	189	1	0	0	0	0	1	0	0	0	3207	1638	57	3	292	3	CECR5	22	17619200	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	28886	17619200	33685366	4795	102652											
CECR1	51816	broad.mit.edu	37	chr22	17670900	17670900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccattcggatggattctgCgatgacagccacatctttgg	12	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:17670900C>T	uc002zmk.1	-	5	1116	c.904G>A	c.(904-906)GCA>ACA	p.A302T	CECR1_uc010gqu.1_Missense_Mutation_p.A302T|CECR1_uc011agi.1_Missense_Mutation_p.A260T|CECR1_uc011agj.1_3'UTR|CECR1_uc002zmj.1_Missense_Mutation_p.A61T	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	302					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			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGGATTCTGCGATGACAGCC	0.577													T	17670900	C	T	17670900	3	4	189	1	0	0	0	0	1	0	0	0	3205	768	27	1	651	1	CECR1	22	17670900	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	51700	17670900	33633666	4796	102653											
CECR1	51816	broad.mit.edu	37	chr22	17684503	17684503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgttgtcctcgtagaActcctgcatgctccggaaga	11	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:17684503A>G	uc002zmk.1	-	3	915	c.703T>C	c.(703-705)TTC>CTC	p.F235L	CECR1_uc010gqu.1_Missense_Mutation_p.F235L|CECR1_uc011agi.1_Missense_Mutation_p.F193L|CECR1_uc011agj.1_Missense_Mutation_p.F193L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	235					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			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCCTCGTAGAACTCCTGCATG	0.532													G	17684503	A	G	17684503	3	3	189	1	0	0	0	0	1	0	0	0	3205	43	2	3	894	3	CECR1	22	17684503	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	13603	17684503	33620063	4797	102654											
CECR2	27443	broad.mit.edu	37	chr22	18018207	18018207	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttattttgtgatttacAgctttgagttggatgatgat	9	3	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:18018207A>G	uc010gqw.1	+	10	1299	c.1173_splice	c.e10-2	p.L391_splice	CECR2_uc010gqv.1_Splice_Site_p.L250_splice|CECR2_uc002zml.2_Splice_Site_p.L250_splice|CECR2_uc002zmn.2_Splice_Site_p.L10_splice	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TGTGATTTACAGCTTTGAGTT	0.388													G	18018207	A	G	18018207	5	3	189	1	0	0	0	0	0	0	1	0	3206	202	7	3	1211	3	CECR2	22	18018207	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	333704	18018207	33286359	4798	102655											
SLC25A18	83733	broad.mit.edu	37	chr22	18070770	18070770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgagctcgccggtaagGcgtcctttgcacattccttc	9	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:18070770G>A	uc002zmp.1	+	9	1149	c.655G>A	c.(655-657)GCG>ACG	p.A219T	SLC25A18_uc010gqx.2_Missense_Mutation_p.A219T|SLC25A18_uc002zmq.1_Missense_Mutation_p.A219T	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	219	Solcar 3.					integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CGCCGGTAAGGCGTCCTTTGC	0.527													A	18070770	G	A	18070770	3	1	189	1	0	0	0	0	1	0	0	0	14480	1203	42	2	681	2	SLC25A18	22	18070770	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	52563	18070770	33233796	4799	102656											
TUBA8	51807	broad.mit.edu	37	chr22	18613870	18613870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagtggggactgattcGtttgaagaagaaaatgaagg	15	2	0	6			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:18613870G>A	uc002znv.1	+	5	1390	c.1317G>A	c.(1315-1317)TCG>TCA	p.S439S	TUBA8_uc002znr.2_Silent_p.S373S|TUBA8_uc002znw.1_Silent_p.S463S|TUBA8_uc002znx.1_Intron	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	439					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						GGACTGATTCGTTTGAAGAAG	0.433													A	18613870	G	A	18613870	2	1	189	1	0	0	0	0	0	0	0	1	16747	1132	40	1		1	TUBA8	22	18613870	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	543100	18613870	32690696	4800	102657											
USP18	11274	broad.mit.edu	37	chr22	18644674	18644674	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggcccctggagctggcCtactgcctgcagaagtgcaa	14	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:18644674C>A	uc002zny.2	+	4	710	c.372C>A	c.(370-372)GCC>GCA	p.A124A		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	ubiquitin specific protease 18	124					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)	1						TGGAGCTGGCCTACTGCCTGC	0.592													A	18644674	C	A	18644674	2	1	189	1	0	0	0	0	0	0	0	1	17046	668	24	5		5	USP18	22	18644674	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	30804	18644674	32659892	4801	102658											
DGCR2	9993	broad.mit.edu	37	chr22	19028790	19028790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagccagggatcctgcggcCgaggttgaagtggtgcactg	16	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:19028790C>T	uc002zoq.1	-	9	1425	c.1177G>A	c.(1177-1179)GGC>AGC	p.G393S	DGCR2_uc002zor.1_Missense_Mutation_p.G169S|DGCR2_uc011agr.1_Missense_Mutation_p.G349S	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	393	Cytoplasmic (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					ATCCTGCGGCCGAGGTTGAAG	0.622													T	19028790	C	T	19028790	3	4	189	1	0	0	0	0	1	0	0	0	4461	652	23	1	483	1	DGCR2	22	19028790	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	384116	19028790	32275776	4802	102659											
CDC45	8318	broad.mit.edu	37	chr22	19470330	19470330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggccagtcaatgtcgtcAatgtatacaacgatacccag	8	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:19470330A>G	uc002zpr.2	+	4	398	c.322A>G	c.(322-324)AAT>GAT	p.N108D	CDC45_uc011agz.1_Missense_Mutation_p.N103D|CDC45_uc011aha.1_Missense_Mutation_p.N108D|CDC45_uc002zps.2_Missense_Mutation_p.N108D|CDC45_uc002zpt.2_Intron	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	108					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			lung(1)	1						CAATGTCGTCAATGTATACAA	0.408													G	19470330	A	G	19470330	3	3	189	1	0	0	0	0	1	0	0	0	3081	130	5	3	336	3	CDC45	22	19470330	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	441540	19470330	31834236	4803	102660											
COMT	1312	broad.mit.edu	37	chr22	19950294	19950294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggccattgacacctActgcgagcagaaggagtggg	16	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:19950294A>G	uc002zqu.2	+	3	494	c.245A>G	c.(244-246)TAC>TGC	p.Y82C	COMT_uc002zqt.2_Missense_Mutation_p.Y82C|COMT_uc002zqv.2_Missense_Mutation_p.Y82C|COMT_uc002zqw.2_Missense_Mutation_p.Y82C|COMT_uc011ahd.1_Missense_Mutation_p.Y82C|COMT_uc002zqx.2_Missense_Mutation_p.Y82C	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	82					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	ATTGACACCTACTGCGAGCAG	0.637													G	19950294	A	G	19950294	3	3	189	1	0	0	0	0	1	0	0	0	3725	391	14	3	247	3	COMT	22	19950294	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	479964	19950294	31354272	4804	102661											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127090	20127090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtccgcatgaagtggTgtgccacgtgccacttctac	11	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:20127090T>C	uc002zrq.2	+	3	422	c.316T>C	c.(316-318)TGT>CGT	p.C106R	ZDHHC8_uc002zrr.1_Missense_Mutation_p.C106R|ZDHHC8_uc010gsa.2_Missense_Mutation_p.C4R	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	106	Cytoplasmic (Potential).|DHHC-type.					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CATGAAGTGGTGTGCCACGTG	0.637													C	20127090	T	C	20127090	3	2	189	1	0	0	0	0	1	0	0	0	17618	1696	59	3	326	3	ZDHHC8	22	20127090	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	176796	20127090	31177476	4805	102662											
DGCR6L	85359	broad.mit.edu	37	chr22	20303653	20303653	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtacctctagttctcGctgctgagccgcctgaacca	8	17	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:20303653G>A	uc002zrx.2	-	3	458	c.361C>T	c.(361-363)CGA>TGA	p.R121*	DGCR6L_uc010gsb.2_Intron|DGCR6L_uc010gsc.2_Nonsense_Mutation_p.R121*	NM_033257	NP_150282	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6 like	121	Potential.					nucleus					0	Colorectal(54;0.0993)					TCTAGTTCTCGCTGCTGAGCC	0.687													A	20303653	G	A	20303653	4	1	189	1	0	0	0	0	0	1	0	0	4463	1095	38	1	313	1	DGCR6L	22	20303653	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	176563	20303653	31000913	4806	102663											
ZNF74	7625	broad.mit.edu	37	chr22	20760494	20760494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaagccctaccagtgcGgctcctgcggcaaggccttc	13	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:20760494G>A	uc010gsm.2	+	6	1383	c.1171G>A	c.(1171-1173)GGC>AGC	p.G391S	ZNF74_uc002zsg.2_Missense_Mutation_p.G320S|ZNF74_uc002zsh.2_Missense_Mutation_p.G391S|ZNF74_uc002zsi.2_Missense_Mutation_p.G320S|ZNF74_uc010gsn.2_Missense_Mutation_p.G320S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	391	C2H2-type 6.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			CTACCAGTGCGGCTCCTGCGG	0.642													A	20760494	G	A	20760494	3	1	189	1	0	0	0	0	1	0	0	0	18124	1116	39	1	1189	1	ZNF74	22	20760494	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	456841	20760494	30544072	4807	102664											
MED15	51586	broad.mit.edu	37	chr22	20891434	20891434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaaagctggtgtggcAcacagtaaatccagcaagga	13	7	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:20891434A>G	uc002zsp.2	+	2	179	c.99A>G	c.(97-99)GCA>GCG	p.A33A	MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Silent_p.A33A|MED15_uc002zsq.2_Silent_p.A33A|MED15_uc010gso.2_Silent_p.A33A|MED15_uc002zsr.2_Silent_p.A7A|MED15_uc011ahs.1_Silent_p.A7A|MED15_uc011aht.1_Silent_p.A7A	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	33	Interaction with SREBF1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			CTGGTGTGGCACACAGTAAAT	0.547													G	20891434	A	G	20891434	2	3	189	1	0	0	0	0	0	0	0	1	9433	146	6	3		3	MED15	22	20891434	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	130940	20891434	30413132	4808	102665											
MED15	51586	broad.mit.edu	37	chr22	20929471	20929471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctaccaccgctgtgtcCgccatcccgtcaagctccat	7	20	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:20929471C>T	uc002zsp.2	+	9	1304	c.1224C>T	c.(1222-1224)TCC>TCT	p.S408S	MED15_uc002zsq.2_Intron|MED15_uc010gso.2_Intron|MED15_uc002zsr.2_Intron|MED15_uc011ahs.1_Intron|MED15_uc002zss.2_Intron|MED15_uc011ahu.1_Silent_p.S134S|MED15_uc002zst.2_Silent_p.S24S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	408	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			CCGCTGTGTCCGCCATCCCGT	0.627													T	20929471	C	T	20929471	2	4	189	1	0	0	0	0	0	0	0	1	9433	639	23	1		1	MED15	22	20929471	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	38037	20929471	30375095	4809	102666											
PI4KA	5297	broad.mit.edu	37	chr22	21062346	21062346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctcctcagtaggggaTgtcattctgatagtactgga	11	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:21062346T>C	uc002zsz.3	-	55	6355	c.6124A>G	c.(6124-6126)ATC>GTC	p.I2042V	PI4KA_uc010gsp.2_Missense_Mutation_p.I433V|PI4KA_uc002zsy.3_Missense_Mutation_p.I852V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	2042					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			CAGTAGGGGATGTCATTCTGA	0.607													C	21062346	T	C	21062346	3	2	189	1	0	0	0	0	1	0	0	0	11873	1464	51	3	14	3	PI4KA	22	21062346	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	132875	21062346	30242220	4810	102667											
LZTR1	8216	broad.mit.edu	37	chr22	21350351	21350351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggccttcgagtccatGctgcgctacatctactacgg	11	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:21350351G>A	uc002zto.2	+	18	2272	c.2169G>A	c.(2167-2169)ATG>ATA	p.M723I	LZTR1_uc002ztn.2_Missense_Mutation_p.M682I|LZTR1_uc011ahy.1_Missense_Mutation_p.M704I|LZTR1_uc002ztp.2_Missense_Mutation_p.M29I	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	723	BTB 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			TCGAGTCCATGCTGCGCTACA	0.612													A	21350351	G	A	21350351	3	1	189	1	0	0	0	0	1	0	0	0	9137	1319	46	2	2239	2	LZTR1	22	21350351	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	288005	21350351	29954215	4811	102668											
HIC2	23119	broad.mit.edu	37	chr22	21799230	21799230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgcgcgtgggcagggCgcggggacatggggcccgac	23	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:21799230C>T	uc002zur.3	+	3	276	c.46C>T	c.(46-48)CGC>TGC	p.R16C	HIC2_uc002zus.3_Missense_Mutation_p.R16C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTGGGCAGGGCGCGGGGACAT	0.662													T	21799230	C	T	21799230	3	4	189	1	0	0	0	0	1	0	0	0	7102	768	27	1	52	1	HIC2	22	21799230	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	448879	21799230	29505336	4812	102669											
HIC2	23119	broad.mit.edu	37	chr22	21799327	21799327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagggcttcctgtgtgacgTcatcatcatggtggagaact	12	9	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:21799327T>C	uc002zur.3	+	3	373	c.143T>C	c.(142-144)GTC>GCC	p.V48A	HIC2_uc002zus.3_Missense_Mutation_p.V48A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	48	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTGTGTGACGTCATCATCATG	0.607													C	21799327	T	C	21799327	3	2	189	1	0	0	0	0	1	0	0	0	7102	1667	58	3	149	3	HIC2	22	21799327	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	97	21799327	29505239	4813	102670											
HIC2	23119	broad.mit.edu	37	chr22	21800502	21800502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacggtgtcctacggggacAacttgtatgtgtgcattccc	12	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:21800502A>G	uc002zur.3	+	3	1548	c.1318A>G	c.(1318-1320)AAC>GAC	p.N440D	HIC2_uc002zus.3_Missense_Mutation_p.N440D	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	440					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTACGGGGACAACTTGTATGT	0.617													G	21800502	A	G	21800502	3	3	189	1	0	0	0	0	1	0	0	0	7102	130	5	3	1324	3	HIC2	22	21800502	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1175	21800502	29504064	4814	102671											
UBE2L3	7332	broad.mit.edu	37	chr22	21947247	21947247	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggcttattgttcctgTgagtattgaacacttccact	9	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:21947247T>C	uc002zva.1	+	2	200	c.123_splice	c.e2+2	p.P41_splice	UBE2L3_uc011aig.1_Intron|UBE2L3_uc002zuz.1_Splice_Site_p.P41_splice|UBE2L3_uc010gti.1_Splice_Site	NM_003347	NP_003338	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3						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				0	Colorectal(54;0.105)					ATTGTTCCTGTGAGTATTGAA	0.423													C	21947247	T	C	21947247	5	2	189	1	0	0	0	0	0	0	1	0	16860	1710	59	3	131	3	UBE2L3	22	21947247	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	146745	21947247	29357319	4815	102672											
CCDC116	164592	broad.mit.edu	37	chr22	21989105	21989105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggctcaagctctggCgtgcctgaagcatcagagcc	13	13	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:21989105C>T	uc002zve.2	+	4	846	c.753C>T	c.(751-753)GGC>GGT	p.G251G	CCDC116_uc011aih.1_Silent_p.G251G	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	251										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CAAGCTCTGGCGTGCCTGAAG	0.572													T	21989105	C	T	21989105	2	4	189	1	0	0	0	0	0	0	0	1	2753	755	27	1		1	CCDC116	22	21989105	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	41858	21989105	29315461	4816	102673											
GNAZ	2781	broad.mit.edu	37	chr22	23438406	23438406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccccactgtcgaggacaTcctgcgctcccgggacatga	10	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:23438406T>C	uc002zwu.1	+	2	1061	c.524T>C	c.(523-525)ATC>ACC	p.I175T	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	175						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			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GTCGAGGACATCCTGCGCTCC	0.607													C	23438406	T	C	23438406	3	2	189	1	0	0	0	0	1	0	0	0	6514	1435	50	3	526	3	GNAZ	22	23438406	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1449301	23438406	27866160	4817	102674											
BCR	613	broad.mit.edu	37	chr22	23603710	23603710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaccagcagcgggtgggcGacctcttccagaagctggtg	15	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:23603710G>A	uc002zww.2	+	4	2331	c.1735G>A	c.(1735-1737)GAC>AAC	p.D579N	BCR_uc002zwx.2_Missense_Mutation_p.D579N|BCR_uc011aiy.1_Missense_Mutation_p.D168N|BCR_uc010gtx.1_Missense_Mutation_p.D82N|uc010gty.2_5'Flank	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	579	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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GCGGGTGGGCGACCTCTTCCA	0.408			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								A	23603710	G	A	23603710	3	1	189	1	0	0	0	0	1	0	0	0	1388	1058	37	1	1749	1	BCR	22	23603710	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	165304	23603710	27700856	4818	102675											
CABIN1	23523	broad.mit.edu	37	chr22	24439497	24439497	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatcctgaccactggccCtgtttggataacctaatcac	7	13	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:24439497C>A	uc002zzi.1	+	6	604	c.477C>A	c.(475-477)CCC>CCA	p.P159P	CABIN1_uc002zzj.1_Silent_p.P159P|CABIN1_uc002zzl.1_Silent_p.P159P|CABIN1_uc010guk.1_Silent_p.P114P|CABIN1_uc002zzk.1_Silent_p.P114P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	159					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ACCACTGGCCCTGTTTGGATA	0.512													A	24439497	C	A	24439497	2	1	189	1	0	0	0	0	0	0	0	1	2528	668	24	5		5	CABIN1	22	24439497	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	835787	24439497	26865069	4819	102676											
SUSD2	56241	broad.mit.edu	37	chr22	24583571	24583571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtcctccctgctcaccTacgattcctggttcctggtc	8	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:24583571T>C	uc002zzn.1	+	12	1968	c.1924T>C	c.(1924-1926)TAC>CAC	p.Y642H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	642	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCTGCTCACCTACGATTCCTG	0.627													C	24583571	T	C	24583571	3	2	189	1	0	0	0	0	1	0	0	0	15405	1522	53	3	1970	3	SUSD2	22	24583571	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	144074	24583571	26720995	4820	102677											
SGSM1	129049	broad.mit.edu	37	chr22	25243746	25243746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaggtgcaagacctggaGcagctgatcgagagcgcgtg	16	10	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:25243746G>A	uc003abg.2	+	4	442	c.285G>A	c.(283-285)GAG>GAA	p.E95E	SGSM1_uc003abh.2_Silent_p.E95E|SGSM1_uc010guu.1_Silent_p.E95E|SGSM1_uc003abj.2_Silent_p.E95E|SGSM1_uc003abi.1_Silent_p.E70E|SGSM1_uc003abf.2_Silent_p.E95E	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	95	RUN.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						AAGACCTGGAGCAGCTGATCG	0.587													A	25243746	G	A	25243746	2	1	189	1	0	0	0	0	0	0	0	1	14222	962	34	2		2	SGSM1	22	25243746	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	660175	25243746	26060820	4821	102678											
SEZ6L	23544	broad.mit.edu	37	chr22	26688424	26688424	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttacctcctgccctcAggagccccggagagaggcag	13	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:26688424A>G	uc003acb.2	+	2	303	c.147A>G	c.(145-147)TCA>TCG	p.S49S	SEZ6L_uc003acc.2_Silent_p.S49S|SEZ6L_uc011akc.1_Silent_p.S49S|SEZ6L_uc003acd.2_Silent_p.S49S|SEZ6L_uc011akd.1_Silent_p.S49S|SEZ6L_uc003ace.2_Silent_p.S49S|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	49	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TCCTGCCCTCAGGAGCCCCGG	0.587													G	26688424	A	G	26688424	2	3	189	1	0	0	0	0	0	0	0	1	14143	175	7	3		3	SEZ6L	22	26688424	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1444678	26688424	24616142	4822	102679											
ASPHD2	57168	broad.mit.edu	37	chr22	26830248	26830248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggaaaatgaacagcAcccccagcggggagtggttc	14	9	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:26830248A>G	uc003acg.2	+	2	1064	c.667A>G	c.(667-669)ACC>GCC	p.T223A		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	223	Lumenal (Potential).				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			ovary(1)	1						AATGAACAGCACCCCCAGCGG	0.537													G	26830248	A	G	26830248	3	3	189	1	0	0	0	0	1	0	0	0	1055	159	6	3	669	3	ASPHD2	22	26830248	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	141824	26830248	24474318	4823	102680											
SRRD	402055	broad.mit.edu	37	chr22	26886097	26886097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacaatcttttatggagtAactggtcagtagatgccctt	8	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:26886097A>G	uc010gve.2	+	5	704	c.697A>G	c.(697-699)AAC>GAC	p.N233D	SRRD_uc003acp.3_Missense_Mutation_p.N226D|uc003acu.1_5'Flank	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	233					rhythmic process						0						TTTATGGAGTAACTGGTCAGT	0.473													G	26886097	A	G	26886097	3	3	189	1	0	0	0	0	1	0	0	0	15166	362	13	3	715	3	SRRD	22	26886097	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	55849	26886097	24418469	4824	102681											
TFIP11	24144	broad.mit.edu	37	chr22	26899657	26899657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcttcctctgagtcaAccacagggaagtcttgcatg	9	12	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:26899657A>G	uc003acr.2	-	6	997	c.623T>C	c.(622-624)GTT>GCT	p.V208A	TFIP11_uc003acs.2_Missense_Mutation_p.V208A|TFIP11_uc003act.2_Missense_Mutation_p.V208A	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	208					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCTGAGTCAACCACAGGGAA	0.478													G	26899657	A	G	26899657	3	3	189	1	0	0	0	0	1	0	0	0	15804	43	2	3	1926	3	TFIP11	22	26899657	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	13560	26899657	24404909	4825	102682											
TPST2	8459	broad.mit.edu	37	chr22	26936888	26936888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccagctgctcgtagtAcacaggcaggcacttctcct	9	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:26936888A>G	uc003acv.2	-	2	877	c.709T>C	c.(709-711)TAC>CAC	p.Y237H	TPST2_uc003acw.2_Missense_Mutation_p.Y237H|TPST2_uc003acx.2_Missense_Mutation_p.Y237H|TPST2_uc011akf.1_Missense_Mutation_p.Y237H	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	237	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						TGCTCGTAGTACACAGGCAGG	0.602													G	26936888	A	G	26936888	3	3	189	1	0	0	0	0	1	0	0	0	16425	391	14	3	440	3	TPST2	22	26936888	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	37231	26936888	24367678	4826	102683											
CRYBA4	1413	broad.mit.edu	37	chr22	27024321	27024321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagaaaggagagctgagcGatgactatccttccctccag	11	11	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:27024321G>A	uc003acz.3	+	5	405	c.370G>A	c.(370-372)GAT>AAT	p.D124N		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	124	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						AGAGCTGAGCGATGACTATCC	0.547													A	27024321	G	A	27024321	3	1	189	1	0	0	0	0	1	0	0	0	3909	1058	37	1	384	1	CRYBA4	22	27024321	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	87433	27024321	24280245	4827	102684											
ZNRF3	84133	broad.mit.edu	37	chr22	29444383	29444383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccctgcccaggagctgCgggtcatcccctgtactcac	9	18	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:29444383C>T	uc003aeg.2	+	7	784	c.619C>T	c.(619-621)CGG>TGG	p.R207W	ZNRF3_uc003aeh.1_Missense_Mutation_p.R207W	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	307	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						CCAGGAGCTGCGGGTCATCCC	0.602													T	29444383	C	T	29444383	3	4	189	1	0	0	0	0	1	0	0	0	18210	759	27	1	641	1	ZNRF3	22	29444383	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2420062	29444383	21860183	4828	102685											
KREMEN1	83999	broad.mit.edu	37	chr22	29533411	29533411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccgacacctatgccaCggggagggtctgctactgga	12	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:29533411C>T	uc011akm.1	+	6	726	c.713C>T	c.(712-714)ACG>ATG	p.T238M	KREMEN1_uc003ael.2_Missense_Mutation_p.T238M|KREMEN1_uc011akn.1_Missense_Mutation_p.T121M	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	236	Extracellular (Potential).|CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						ACCTATGCCACGGGGAGGGTC	0.597													T	29533411	C	T	29533411	3	4	189	1	0	0	0	0	1	0	0	0	8442	536	19	1	735	1	KREMEN1	22	29533411	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	89028	29533411	21771155	4829	102686											
EWSR1	2130	broad.mit.edu	37	chr22	29696151	29696151	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcagagatcggccctactaGatgcagagaccccgcagagc	12	14	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:29696151G>T	uc003aet.2	+	17	2299	c.1971G>T	c.(1969-1971)TAG>TAT	p.*657Y	EWSR1_uc003aev.2_Nonstop_Mutation_p.*662Y|EWSR1_uc003aew.2_Nonstop_Mutation_p.*601Y|EWSR1_uc003aex.2_Nonstop_Mutation_p.*656Y|EWSR1_uc003aey.2_Nonstop_Mutation_p.*452Y|EWSR1_uc003aez.2_Nonstop_Mutation_p.*318Y	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						GGCCCTACTAGATGCAGAGAC	0.468			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								T	29696151	G	T	29696151	4	4	189	1	0	0	0	0	0	0	0	0	5296	937	33	5	2154	5	EWSR1	22	29696151	Nonstop_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	162740	29696151	21608415	4830	102687											
GAS2L1	10634	broad.mit.edu	37	chr22	29708221	29708221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgggctgcctgggccccGaagccaagccctttccagct	11	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:29708221G>A	uc003afa.1	+	7	1980	c.1781G>A	c.(1780-1782)CGA>CAA	p.R594Q	GAS2L1_uc010gvm.1_Missense_Mutation_p.R367Q|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R594Q|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	594					cell cycle arrest	cytoplasm|cytoskeleton					0						CCTGGGCCCCGAAGCCAAGCC	0.662													A	29708221	G	A	29708221	3	1	189	1	0	0	0	0	1	0	0	0	6246	1059	37	1	1802	1	GAS2L1	22	29708221	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	12070	29708221	21596345	4831	102688											
AP1B1	162	broad.mit.edu	37	chr22	29754783	29754783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcctccaccagctgggCgttgatgtcgtggagcttgg	15	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:29754783C>T	uc003afj.2	-	5	641	c.457G>A	c.(457-459)GCC>ACC	p.A153T	AP1B1_uc003afi.2_Missense_Mutation_p.A153T|AP1B1_uc003afk.2_Missense_Mutation_p.A153T|AP1B1_uc003afl.2_Missense_Mutation_p.A153T	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	153					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			ovary(1)|skin(1)	2						ACCAGCTGGGCGTTGATGTCG	0.592													T	29754783	C	T	29754783	3	4	189	1	0	0	0	0	1	0	0	0	731	768	27	1	2468	1	AP1B1	22	29754783	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	46562	29754783	21549783	4832	102689											
RFPL1	5988	broad.mit.edu	37	chr22	29837596	29837596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgacgacctcaggagcGtccgaagtgggtgcatcaca	12	11	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:29837596G>A	uc003afn.2	+	2	648	c.439G>A	c.(439-441)GTC>ATC	p.V147I	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	147	B30.2/SPRY.						zinc ion binding				0						CCTCAGGAGCGTCCGAAGTGG	0.512													A	29837596	G	A	29837596	3	1	189	1	0	0	0	0	1	0	0	0	13253	1145	40	1	445	1	RFPL1	22	29837596	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	82813	29837596	21466970	4833	102690											
MORC2	22880	broad.mit.edu	37	chr22	31331151	31331151	+	Splice_Site	DEL	A	A	-													aggtctacgcacaggttcctAaaaaaaggcccacagagagt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:31331150_31331150TA>T	uc003aje.1	-	20	2991	c.1627_splice	c.e20-1	p.E543_splice		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	605							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						CACAGGTTCCTAAAAAAAGGC	0.567													-	31331151	A	-	31331151	8	5	189	1	0	1	0	1	0	0	1	0	9702	377	13	0		0	MORC2	22	31331151	Splice_Site	DEL	A	TCGA-CG-5721-01A-11D-1600-08	1493555	31331151	19973415	4834	102691											
PLA2G3	50487	broad.mit.edu	37	chr22	31536087	31536087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtctcatgagcacagagaGcaccgtaggctgcggtgagc	14	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:31536087G>A	uc003aka.2	-	1	383	c.254C>T	c.(253-255)GCT>GTT	p.A85V		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	85					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						AGCACAGAGAGCACCGTAGGC	0.637													A	31536087	G	A	31536087	3	1	189	1	0	0	0	0	1	0	0	0	12000	971	34	2	1303	2	PLA2G3	22	31536087	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	204936	31536087	19768479	4835	102692											
LIMK2	3985	broad.mit.edu	37	chr22	31669457	31669457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagagctatgatgagacGgtggatatcttctcctttgg	13	6	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:31669457G>A	uc003akh.2	+	14	1723	c.1578G>A	c.(1576-1578)ACG>ACA	p.T526T	LIMK2_uc003akg.2_Silent_p.T443T|LIMK2_uc003aki.2_Silent_p.T280T|LIMK2_uc003akj.2_Silent_p.T505T|LIMK2_uc003akk.2_Silent_p.T505T|LIMK2_uc011aln.1_Silent_p.T443T	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	526	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						ATGATGAGACGGTGGATATCT	0.542											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	31669457	G	A	31669457	2	1	189	1	0	0	0	0	0	0	0	1	8802	1103	39	1		1	LIMK2	22	31669457	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	133370	31669457	19635109	4836	102693											
SFI1	9814	broad.mit.edu	37	chr22	32010791	32010791	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaacactgcccactcaGcgaggaagcagccgcgacgc	11	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:32010791G>C	uc003ale.2	+	28	3406	c.3013G>C	c.(3013-3015)GCG>CCG	p.A1005P	SFI1_uc003alf.2_Missense_Mutation_p.A974P|SFI1_uc003alg.2_Missense_Mutation_p.A923P|SFI1_uc011alp.1_Missense_Mutation_p.A911P|SFI1_uc011alq.1_Missense_Mutation_p.A950P|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.A97P|SFI1_uc003alj.2_Missense_Mutation_p.Q76H	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	1005					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						TGCCCACTCAGCGAGGAAGCA	0.627													C	32010791	G	C	32010791	3	2	189	1	0	0	0	0	1	0	0	0	14156	971	34	5	3119	5	SFI1	22	32010791	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	341334	32010791	19293775	4837	102694											
DEPDC5	9681	broad.mit.edu	37	chr22	32229940	32229940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataaggattctctagaggAcagtgtttctacctctccag	9	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:32229940A>G	uc003als.2	+	25	2286	c.2144A>G	c.(2143-2145)GAC>GGC	p.D715G	DEPDC5_uc011als.1_Missense_Mutation_p.D637G|DEPDC5_uc011alu.1_Missense_Mutation_p.D715G|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.D715G|DEPDC5_uc003alu.2_Missense_Mutation_p.D155G|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.D36G|DEPDC5_uc003alw.2_Missense_Mutation_p.D13G|DEPDC5_uc011alx.1_5'UTR|DEPDC5_uc011alt.1_Missense_Mutation_p.D609G	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	715					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						TCTCTAGAGGACAGTGTTTCT	0.483													G	32229940	A	G	32229940	3	3	189	1	0	0	0	0	1	0	0	0	4442	275	10	3	2256	3	DEPDC5	22	32229940	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	219149	32229940	19074626	4838	102695											
DEPDC5	9681	broad.mit.edu	37	chr22	32293527	32293527	+	Frame_Shift_Del	DEL	G	G	-													ttgttagtcccagttttggaGgggccttttgcactgcccag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:32293526_32293526AG>A	uc011alu.2	+	39	4464	c.4262_4262AG>A	c.(4261-4263)gagfs	p.E1421fs	DEPDC5_uc011als.2_Frame_Shift_Del_p.E1321fs|DEPDC5_uc003als.3_Frame_Shift_Del_p.E1390fs|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Frame_Shift_Del_p.E1412fs|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Frame_Shift_Del_p.E839fs|DEPDC5_uc003alw.3_Frame_Shift_Del_p.E688fs|DEPDC5_uc011alx.2_Frame_Shift_Del_p.E238fs|DEPDC5_uc010gwk.3_Frame_Shift_Del_p.E416fs|DEPDC5_uc011aly.2_Frame_Shift_Del_p.E238fs	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1390					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						CCAGTTTTGGAGGGGCCTTTT	0.537													-	32293527	G	-	32293527	7	5	189	1	0	1	0	1	0	0	0	0	4442	991	35	0	4408	0	DEPDC5	22	32293527	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	63587	32293527	19011039	4839	102696											
RFPL2	10739	broad.mit.edu	37	chr22	32586769	32586769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagggcttatttggccTccccaggacggactggagca	15	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:32586769T>C	uc003amg.3	-	5	2063	c.1127A>G	c.(1126-1128)GAG>GGG	p.E376G	RFPL2_uc003ame.3_Missense_Mutation_p.E315G|RFPL2_uc003amf.3_Missense_Mutation_p.E286G|RFPL2_uc003amh.3_Missense_Mutation_p.E286G	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	376							zinc ion binding			skin(1)	1						TTATTTGGCCTCCCCAGGACG	0.443													C	32586769	T	C	32586769	3	2	189	1	0	0	0	0	1	0	0	0	13254	1551	54	3	13	3	RFPL2	22	32586769	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	293242	32586769	18717797	4840	102697											
SLC5A4	6527	broad.mit.edu	37	chr22	32644771	32644771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatccacccaagaaTcagcaacattactgaggact	7	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:32644771T>C	uc003ami.2	-	4	333	c.331A>G	c.(331-333)ATT>GTT	p.I111V		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	111	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CACCCAAGAATCAGCAACATT	0.338													C	32644771	T	C	32644771	3	2	189	1	0	0	0	0	1	0	0	0	14667	1435	50	3	1696	3	SLC5A4	22	32644771	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	58002	32644771	18659795	4841	102698											
SLC5A4	6527	broad.mit.edu	37	chr22	32650198	32650198	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcggttggtcttcagcatCgcctgagcagaagggaagac	13	11	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:32650198C>T	uc003ami.2	-	2	140	c.138G>A	c.(136-138)GCG>GCA	p.A46A		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	46	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						TCTTCAGCATCGCCTGAGCAG	0.567													T	32650198	C	T	32650198	2	4	189	1	0	0	0	0	0	0	0	1	14667	871	31	1		1	SLC5A4	22	32650198	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5427	32650198	18654368	4842	102699											
C22orf28	51493	broad.mit.edu	37	chr22	32794006	32794007	+	Frame_Shift_Ins	INS	-	-	T													cccttatggtcgatgcccatINSttttttagcagcatactcat							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:32794005_32794006A>AT	uc003amm.2	-	6	867_868	c.736_737T>AT	c.(736-738)atgfs	p.M246fs	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	246					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding	p.M246fs*11(2)		breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						GTCGATGCCCATTTTTTTAGCA	0.46													T	32794007	-	T	32794006	7	5	189	1	0	1	1	0	0	0	0	0	2140	1493	52	0	805	0	C22orf28	22	32794006	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	143808	32794006	18510560	4843	102700											
HMGXB4	10042	broad.mit.edu	37	chr22	35661177	35661177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcatctcctggccctgaaGgctgtgggtctgacgcctcc	11	14	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:35661177G>T	uc003anl.2	+	5	970	c.796G>T	c.(796-798)GGC>TGC	p.G266C	HMGXB4_uc011amh.1_Missense_Mutation_p.G157C|HMGXB4_uc003ank.2_Missense_Mutation_p.G157C	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	266					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						TGGCCCTGAAGGCTGTGGGTC	0.512													T	35661177	G	T	35661177	3	4	189	1	0	0	0	0	1	0	0	0	7239	1000	35	5	810	5	HMGXB4	22	35661177	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2867171	35661177	15643389	4844	102701											
APOL1	8542	broad.mit.edu	37	chr22	36661621	36661621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacgacctggtcatcaaaAgccttgacaaattgaaggag	9	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:36661621A>G	uc003apf.2	+	6	907	c.739A>G	c.(739-741)AGC>GGC	p.S247G	APOL1_uc011amn.1_Missense_Mutation_p.S124G|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.S263G|APOL1_uc011amo.1_Missense_Mutation_p.S124G|APOL1_uc011amp.1_Missense_Mutation_p.S247G|APOL1_uc011amq.1_Missense_Mutation_p.S229G|APOL1_uc010gwx.2_Missense_Mutation_p.S124G	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	247					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)|ovary(1)	3						GGTCATCAAAAGCCTTGACAA	0.493													G	36661621	A	G	36661621	3	3	189	1	0	0	0	0	1	0	0	0	805	72	3	3	809	3	APOL1	22	36661621	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1000444	36661621	14642945	4845	102702											
CACNG2	10369	broad.mit.edu	37	chr22	36960849	36960849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaccagccgtatgagTaactattctttttggagtcg	11	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:36960849T>C	uc003aps.1	-	4	803	c.521A>G	c.(520-522)TAC>TGC	p.Y174C		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	174					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				0						GCCGTATGAGTAACTATTCTT	0.547													C	36960849	T	C	36960849	3	2	189	1	0	0	0	0	1	0	0	0	2557	1638	57	3	454	3	CACNG2	22	36960849	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	299228	36960849	14343717	4846	102703											
KCTD17	79734	broad.mit.edu	37	chr22	37457578	37457578	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcacgtttcctccttgcaGgttcccgtccgcaccctctc	6	20	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:37457578G>T	uc010gxb.2	+	8	807	c.785_splice	c.e8-1	p.G262_splice	KCTD17_uc011amv.1_Splice_Site_p.G245_splice|KCTD17_uc010gxc.2_Splice_Site_p.V205_splice	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerisation domain							voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0						CCTCCTTGCAGGTTCCCGTCC	0.687													T	37457578	G	T	37457578	5	4	189	1	0	0	0	0	0	0	1	0	8104	1014	35	5	759	5	KCTD17	22	37457578	Splice_Site	SNP	G	TCGA-CG-5721-01A-11D-1600-08	496729	37457578	13846988	4847	102704											
RAC2	5880	broad.mit.edu	37	chr22	37637690	37637690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagaaggcaggtcttgCccacggccctgaaagacagg	14	10	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:37637690C>T	uc003arc.2	-	2	161	c.44G>A	c.(43-45)GGC>GAC	p.G15D		NM_002872	NP_002863	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2	15	GTP (By similarity).				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(2)|central_nervous_system(1)|skin(1)	4						GCAGGTCTTGCCCACGGCCCT	0.612													T	37637690	C	T	37637690	3	4	189	1	0	0	0	0	1	0	0	0	12975	739	26	2	554	2	RAC2	22	37637690	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	180112	37637690	13666876	4848	102705											
TRIOBP	11078	broad.mit.edu	37	chr22	38151115	38151115	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgctccaggcagatgAgctggatggtgagatcgacc	13	11	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:38151115A>T	uc003atr.2	+	14	5766	c.5495A>T	c.(5494-5496)GAG>GTG	p.E1832V	TRIOBP_uc003atu.2_Missense_Mutation_p.E1660V|TRIOBP_uc003atv.2_Missense_Mutation_p.E119V|TRIOBP_uc003atw.2_Missense_Mutation_p.E119V|TRIOBP_uc003atx.1_5'Flank|TRIOBP_uc010gxh.2_5'Flank	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1832	PH.				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)	1	Melanoma(58;0.0574)					CAGGCAGATGAGCTGGATGGT	0.632													T	38151115	A	T	38151115	3	4	189	1	0	0	0	0	1	0	0	0	16550	304	11	5	5728	5	TRIOBP	22	38151115	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	513425	38151115	13153451	4849	102706											
CSNK1E	1454	broad.mit.edu	37	chr22	38694806	38694806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcacgaatttcagcatgttCcagtcaaagacgtagtcata	7	10	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:38694806C>A	uc003avj.2	-	7	1131	c.870G>T	c.(868-870)TGG>TGT	p.W290C	CSNK1E_uc003avk.2_Missense_Mutation_p.W290C|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.W290C|CSNK1E_uc003avo.2_Missense_Mutation_p.W290C|CSNK1E_uc003avp.1_Missense_Mutation_p.W290C|CSNK1E_uc003avq.1_Missense_Mutation_p.W290C	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	290					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			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					TCAGCATGTTCCAGTCAAAGA	0.597											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	38694806	C	A	38694806	3	1	189	1	0	0	0	0	1	0	0	0	3953	856	30	5	396	5	CSNK1E	22	38694806	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	543691	38694806	12609760	4850	102707											
CSNK1E	1454	broad.mit.edu	37	chr22	38694907	38694907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcgtcaaaccgcagggAgcggcagaagttgaggtatg	15	8	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:38694907A>G	uc003avj.2	-	7	1030	c.769T>C	c.(769-771)TCC>CCC	p.S257P	CSNK1E_uc003avk.2_Missense_Mutation_p.S257P|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.S257P|CSNK1E_uc003avo.2_Missense_Mutation_p.S257P|CSNK1E_uc003avp.1_Missense_Mutation_p.S257P|CSNK1E_uc003avq.1_Missense_Mutation_p.S257P	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	257	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			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					AACCGCAGGGAGCGGCAGAAG	0.577											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	38694907	A	G	38694907	3	3	189	1	0	0	0	0	1	0	0	0	3953	304	11	3	497	3	CSNK1E	22	38694907	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	101	38694907	12609659	4851	102708											
KCNJ4	3761	broad.mit.edu	37	chr22	38823509	38823509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccacaatgtggctcttgCgcaggttgcccacgcgccac	10	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:38823509C>T	uc003avs.1	-	2	726	c.629G>A	c.(628-630)CGC>CAC	p.R210H	KCNJ4_uc003avt.1_Missense_Mutation_p.R210H	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	210	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GTGGCTCTTGCGCAGGTTGCC	0.662													T	38823509	C	T	38823509	3	4	189	1	0	0	0	0	1	0	0	0	8053	768	27	1	712	1	KCNJ4	22	38823509	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	128602	38823509	12481057	4852	102709											
DDX17	10521	broad.mit.edu	37	chr22	38897252	38897252	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggattaccaaatttcttCgggggaaggccaccaccacc	9	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:38897252C>T	uc003avy.3	-	2	424	c.321G>A	c.(319-321)CCG>CCA	p.P107P	DDX17_uc003avx.3_Silent_p.P107P|DDX17_uc011anu.1_Silent_p.P20P	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	28					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					CAAATTTCTTCGGGGGAAGGC	0.408													T	38897252	C	T	38897252	2	4	189	1	0	0	0	0	0	0	0	1	4344	871	31	1		1	DDX17	22	38897252	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	73743	38897252	12407314	4853	102710											
DMC1	11144	broad.mit.edu	37	chr22	38962699	38962699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgtatacctttgatggTacagattcctactgatttca	6	9	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:38962699T>C	uc003avz.1	-	4	314	c.139A>G	c.(139-141)ACC>GCC	p.T47A	DMC1_uc011anv.1_Missense_Mutation_p.T47A|DMC1_uc003awa.1_Missense_Mutation_p.T47A	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	47					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					CCTTTGATGGTACAGATTCCT	0.423								Homologous_recombination					C	38962699	T	C	38962699	3	2	189	1	0	0	0	0	1	0	0	0	4579	1638	57	3	927	3	DMC1	22	38962699	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	65447	38962699	12341867	4854	102711											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421596	39421596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaactttgtgtgcaaTgaaggtcagccattcatgcc	11	8	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:39421596T>C	uc011aoe.1	+	4	579	c.525T>C	c.(523-525)AAT>AAC	p.N175N	APOBEC3D_uc011aod.1_Silent_p.N244N|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.N175N|APOBEC3D_uc010gxu.2_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	175					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					TTGTGTGCAATGAAGGTCAGC	0.547													C	39421596	T	C	39421596	2	2	189	1	0	0	0	0	0	0	0	1	792	1461	51	3		3	APOBEC3D	22	39421596	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	458897	39421596	11882970	4855	102712											
MGAT3	4248	broad.mit.edu	37	chr22	39884031	39884031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggacgtgcgcttccacGagctgggcgacgtggtggac	17	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:39884031G>A	uc003axv.3	+	2	918	c.679G>A	c.(679-681)GAG>AAG	p.E227K	MGAT3_uc010gxy.2_Missense_Mutation_p.E227K	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	227	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					GCGCTTCCACGAGCTGGGCGA	0.652													A	39884031	G	A	39884031	3	1	189	1	0	0	0	0	1	0	0	0	9544	1059	37	1	681	1	MGAT3	22	39884031	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	462435	39884031	11420535	4856	102713											
RPS19BP1	91582	broad.mit.edu	37	chr22	39925608	39925608	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggtcacaggccttgcgGccccggttctggcgcaaaat	14	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:39925608G>C	uc003ayb.2	-	4	427	c.300C>G	c.(298-300)GGC>GGG	p.G100G		NM_194326	NP_919307	Q86WX3	AROS_HUMAN	S19 binding protein	100						nucleolus|nucleoplasm					0	Melanoma(58;0.04)					AGGCCTTGCGGCCCCGGTTCT	0.612											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39925608	G	C	39925608	2	2	189	1	0	0	0	0	0	0	0	1	13630	1190	42	5		5	RPS19BP1	22	39925608	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	41577	39925608	11378958	4857	102714											
CACNA1I	8911	broad.mit.edu	37	chr22	40043875	40043875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagacatctcggaagccGgcattgccagactttgcatg	13	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:40043875G>A	uc003ayc.2	+	9	1511	c.1511G>A	c.(1510-1512)CGG>CAG	p.R504Q	CACNA1I_uc003ayd.2_Intron|CACNA1I_uc003aye.2_Missense_Mutation_p.R419Q|CACNA1I_uc003ayf.2_Intron	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	504	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTCGGAAGCCGGCATTGCCAG	0.373													A	40043875	G	A	40043875	3	1	189	1	0	0	0	0	1	0	0	0	2546	1116	39	1	1545	1	CACNA1I	22	40043875	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	118267	40043875	11260691	4858	102715											
CACNA1I	8911	broad.mit.edu	37	chr22	40064365	40064365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtacaatggactggaTgctgttgctgtggaccagca	12	8	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:40064365T>C	uc003ayc.2	+	24	4173	c.4173T>C	c.(4171-4173)GAT>GAC	p.D1391D	CACNA1I_uc003ayd.2_Silent_p.D1356D|CACNA1I_uc003aye.2_Silent_p.D1306D|CACNA1I_uc003ayf.2_Silent_p.D1271D	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1391	Extracellular (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ATGGACTGGATGCTGTTGCTG	0.562													C	40064365	T	C	40064365	2	2	189	1	0	0	0	0	0	0	0	1	2546	1461	51	3		3	CACNA1I	22	40064365	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	20490	40064365	11240201	4859	102716											
ADSL	158	broad.mit.edu	37	chr22	40754911	40754911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacgttgctgtctttggAttcaggatctttgcatggat	12	6	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:40754911A>G	uc003ayp.3	+	5	585	c.526A>G	c.(526-528)ATT>GTT	p.I176V	ADSL_uc003ays.3_Missense_Mutation_p.I176V|ADSL_uc003ayq.3_Missense_Mutation_p.I176V|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.I161V|ADSL_uc010gyb.1_RNA	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	176					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			ovary(1)	1						CTGTCTTTGGATTCAGGATCT	0.512													G	40754911	A	G	40754911	3	3	189	1	0	0	0	0	1	0	0	0	346	333	12	3	544	3	ADSL	22	40754911	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	690546	40754911	10549655	4860	102717											
MKL1	57591	broad.mit.edu	37	chr22	40814987	40814987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctgcagggtcagctgCgtcagaggtgatgtcaccat	15	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:40814987C>T	uc003ayv.1	-	9	1662	c.1455G>A	c.(1453-1455)ACG>ACA	p.T485T	MKL1_uc003ayw.1_Silent_p.T485T|MKL1_uc010gye.1_Silent_p.T485T|MKL1_uc010gyf.1_Silent_p.T435T	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	485					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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GGGTCAGCTGCGTCAGAGGTG	0.682			T	RBM15	acute megakaryocytic leukemia								T	40814987	C	T	40814987	2	4	189	1	0	0	0	0	0	0	0	1	9601	755	27	1		1	MKL1	22	40814987	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	60076	40814987	10489579	4861	102718											
EP300	2033	broad.mit.edu	37	chr22	41573174	41573174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagcaacagctgcagcAccgactacagcaggcccaaa	10	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:41573174A>G	uc003azl.3	+	31	5854	c.5459A>G	c.(5458-5460)CAC>CGC	p.H1820R		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1820					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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CAGCTGCAGCACCGACTACAG	0.617			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				G	41573174	A	G	41573174	3	3	189	1	0	0	0	0	1	0	0	0	5148	159	6	3	5581	3	EP300	22	41573174	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	758187	41573174	9731392	4862	102719											
EP300	2033	broad.mit.edu	37	chr22	41574435	41574435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaacaaggaaatatgggAcagataggccagcttcccca	10	10	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:41574435A>G	uc003azl.3	+	31	7115	c.6720A>G	c.(6718-6720)GGA>GGG	p.G2240G		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2240	Interaction with NCOA2.				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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GAAATATGGGACAGATAGGCC	0.567			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				G	41574435	A	G	41574435	2	3	189	1	0	0	0	0	0	0	0	1	5148	262	10	3		3	EP300	22	41574435	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1261	41574435	9730131	4863	102720											
L3MBTL2	83746	broad.mit.edu	37	chr22	41625571	41625571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcccgcccactaagacgcGacccctcagacaggggtcca	9	17	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:41625571G>A	uc003azo.2	+	16	1970	c.1916G>A	c.(1915-1917)CGA>CAA	p.R639Q	L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_3'UTR|CHADL_uc010gyj.2_3'UTR	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	639					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						ACTAAGACGCGACCCCTCAGA	0.532													A	41625571	G	A	41625571	3	1	189	1	0	0	0	0	1	0	0	0	8592	1058	37	1	1978	1	L3MBTL2	22	41625571	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	51136	41625571	9678995	4864	102721											
TOB2	10766	broad.mit.edu	37	chr22	41832509	41832509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaacgggcctggggtgcCgctgccctggccatcggccg	15	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:41832509C>T	uc003azz.1	-	2	1548	c.841G>A	c.(841-843)GGC>AGC	p.G281S		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	281				QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971).	female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						CCTGGGGTGCCGCTGccctgg	0.363													T	41832509	C	T	41832509	3	4	189	1	0	0	0	0	1	0	0	0	16345	652	23	1	197	1	TOB2	22	41832509	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	206938	41832509	9472057	4865	102722											
ACO2	50	broad.mit.edu	37	chr22	41919849	41919849	+	Frame_Shift_Del	DEL	G	G	-													ggcaggaaggacatcaagaaGggggagaagaacacaatcgt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:41919848_41919848AG>A	uc003bac.3	+	11	1407	c.1385_1385AG>A	c.(1384-1386)aagfs	p.K462fs		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	462					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						GACATCAAGAAGGGGGAGAAG	0.577													-	41919849	G	-	41919849	7	5	189	1	0	1	0	1	0	0	0	0	147	991	35	0	1432	0	ACO2	22	41919849	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	87340	41919849	9384717	4866	102723											
PPPDE2	27351	broad.mit.edu	37	chr22	42016765	42016765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccccctcacccagcatgaTggggctgagccgccgggcca	12	17	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:42016765T>C	uc003ban.1	-	1	152	c.79A>G	c.(79-81)ATC>GTC	p.I27V	PPPDE2_uc011apb.1_RNA|XRCC6_uc003bao.1_5'Flank|XRCC6_uc003bap.1_5'Flank|XRCC6_uc011apc.1_5'Flank|XRCC6_uc003baq.1_5'Flank|XRCC6_uc003bar.1_5'Flank|XRCC6_uc003bas.1_5'Flank	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN	PPPDE peptidase domain containing 2	27	PPPDE peptidase.										0						CCCAGCATGATGGGGCTGAGC	0.697													C	42016765	T	C	42016765	3	2	189	1	0	0	0	0	1	0	0	0	12409	1464	51	3	451	3	PPPDE2	22	42016765	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	96916	42016765	9287801	4867	102724											
SREBF2	6721	broad.mit.edu	37	chr22	42262964	42262964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggcagcagcagcagcaGcagcaatggcaggggcagca	16	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:42262964G>A	uc003bbi.2	+	2	387	c.218G>A	c.(217-219)AGC>AAC	p.S73N	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	73	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						agcagcagcagcagcaatggc	0.393													A	42262964	G	A	42262964	3	1	189	1	0	0	0	0	1	0	0	0	15141	971	34	2	224	2	SREBF2	22	42262964	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	246199	42262964	9041602	4868	102725											
TCF20	6942	broad.mit.edu	37	chr22	42564716	42564716	+	Frame_Shift_Del	DEL	G	G	-													ttcgcggtcttgttctgcaaGggggggagagggcacggaag							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:42564715_42564715AG>A	uc003bcj.1	-	3	5961	c.5827_5827CT>T	c.(5827-5829)ttgfs	p.L1943fs	TCF20_uc003bck.1_Intron	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1943					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						TTGTTCTGCAAGGGGGGGAGA	0.617											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	42564716	G	-	42564716	7	5	189	1	0	1	0	1	0	0	0	0	15687	987	35	0	82	0	TCF20	22	42564716	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	301752	42564716	8739850	4869	102726											
TCF20	6942	broad.mit.edu	37	chr22	42610948	42610949	+	Frame_Shift_Ins	INS	-	-	G													ttgccaaagctgctcccctgINSggggggtccatagctctgca					rs138734341		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:42610947_42610948T>TG	uc003bcj.1	-	0	498_499	c.364_365A>CA	c.(364-366)cagfs	p.Q122fs	TCF20_uc003bck.1_Frame_Shift_Ins_p.Q122fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	122				Q -> R (in Ref. 1).	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						GCTGCTCCCCTGGGGGGGTCCA	0.564													G	42610949	-	G	42610948	7	5	189	1	0	1	1	0	0	0	0	0	15687	1357	47	0	5556	0	TCF20	22	42610948	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	46232	42610948	8693618	4870	102727											
ARFGAP3	26286	broad.mit.edu	37	chr22	43218294	43218294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattgattcttctttagatAccaccttggccaggtcttcc	6	12	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:43218294A>G	uc003bdd.2	-	9	1014	c.794T>C	c.(793-795)GTA>GCA	p.V265A	ARFGAP3_uc010gzf.2_Missense_Mutation_p.V221A|ARFGAP3_uc011apu.1_Missense_Mutation_p.V193A	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	265					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(1)	1						TTCTTTAGATACCACCTTGGC	0.343													G	43218294	A	G	43218294	3	3	189	1	0	0	0	0	1	0	0	0	851	391	14	3	788	3	ARFGAP3	22	43218294	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	607346	43218294	8086272	4871	102728											
MCAT	27349	broad.mit.edu	37	chr22	43529260	43529260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcccacttcactggggagAccagctgctgggccagcagc	13	15	1	1	rs113924126		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:43529260A>G	uc003bdl.1	-	4	1011	c.962T>C	c.(961-963)GTC>GCC	p.V321A	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	321					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)				CACTGGGGAGACCAGCTGCTG	0.567													G	43529260	A	G	43529260	3	3	189	1	0	0	0	0	1	0	0	0	9372	275	10	3	214	3	MCAT	22	43529260	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	310966	43529260	7775306	4872	102729											
SCUBE1	80274	broad.mit.edu	37	chr22	43604189	43604189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgatgggcctctcgtAggtctggcaggtctcatagg	16	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:43604189A>C	uc003bdt.1	-	20	2711	c.2623T>G	c.(2623-2625)TAC>GAC	p.Y875D		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	875	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			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCCTCTCGTAGGTCTGGCAG	0.537													C	43604189	A	C	43604189	3	2	189	1	0	0	0	0	1	0	0	0	13944	420	15	5	355	5	SCUBE1	22	43604189	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	74929	43604189	7700377	4873	102730											
EFCAB6	64800	broad.mit.edu	37	chr22	44112809	44112809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagaacctagcaaacgTtcctttttggaatttttggc	9	8	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:44112809T>C	uc003bdy.1	-	9	1016	c.801A>G	c.(799-801)GAA>GAG	p.E267E	EFCAB6_uc003bdz.1_Silent_p.E115E|EFCAB6_uc010gzi.1_Silent_p.E115E|EFCAB6_uc010gzk.1_RNA|EFCAB6_uc011aqa.1_Silent_p.E161E|EFCAB6_uc003bea.1_Silent_p.E264E|EFCAB6_uc003beb.3_Silent_p.E161E	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CTAGCAAACGTTCCTTTTTGG	0.363													C	44112809	T	C	44112809	2	2	189	1	0	0	0	0	0	0	0	1	4939	1722	60	3		3	EFCAB6	22	44112809	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	508620	44112809	7191757	4874	102731											
PARVG	64098	broad.mit.edu	37	chr22	44585064	44585064	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagccagaagcacaagctCacagtggtgctggaggccgt	13	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:44585064C>T	uc011aqe.1	+	6	742	c.318C>T	c.(316-318)CTC>CTT	p.L106L	PARVG_uc003bep.2_Silent_p.L106L|PARVG_uc011aqf.1_Silent_p.L106L|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	106	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				AGCACAAGCTCACAGTGGTGC	0.647													T	44585064	C	T	44585064	2	4	189	1	0	0	0	0	0	0	0	1	11470	813	29	4		4	PARVG	22	44585064	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	472255	44585064	6719502	4875	102732											
PARVG	64098	broad.mit.edu	37	chr22	44592258	44592258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcaaccagaagctggAccgcctgggcctgtctgtgc	12	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:44592258A>G	uc011aqe.1	+	11	1098	c.674A>G	c.(673-675)GAC>GGC	p.D225G	PARVG_uc003bep.2_Missense_Mutation_p.D225G|PARVG_uc011aqf.1_Missense_Mutation_p.D225G|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	225	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				CAGAAGCTGGACCGCCTGGGC	0.607													G	44592258	A	G	44592258	3	3	189	1	0	0	0	0	1	0	0	0	11470	275	10	3	708	3	PARVG	22	44592258	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	7194	44592258	6712308	4876	102733											
KIAA1644	85352	broad.mit.edu	37	chr22	44681392	44681392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgtggggcttgtggcAgcgggcctgggggaggctgc	22	10	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:44681392A>G	uc003bet.2	-	4	648	c.515T>C	c.(514-516)CTG>CCG	p.L172P		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	172	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GGCTTGTGGCAGCGGGCCTGG	0.687													G	44681392	A	G	44681392	3	3	189	1	0	0	0	0	1	0	0	0	8250	188	7	3	92	3	KIAA1644	22	44681392	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	89134	44681392	6623174	4877	102734											
PHF21B	112885	broad.mit.edu	37	chr22	45279040	45279040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtccagggcccggccaGcagtggggcagggctagtgg	19	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:45279040G>A	uc003bfn.2	-	13	1673	c.1522C>T	c.(1522-1524)CTG>TTG	p.L508L	PHF21B_uc003bfm.2_Silent_p.L304L|PHF21B_uc011aqk.1_Silent_p.L454L|PHF21B_uc011aql.1_Silent_p.L466L	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	508							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGCCCGGCCAGCAGTGGGGCA	0.672													A	45279040	G	A	45279040	2	1	189	1	0	0	0	0	0	0	0	1	11834	962	34	2		2	PHF21B	22	45279040	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	597648	45279040	6025526	4878	102735											
FAM118A	55007	broad.mit.edu	37	chr22	45719147	45719147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtggcccccggaatcCctgccctttgctcgtggaga	12	15	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:45719147C>A	uc003bfz.3	+	4	755	c.139C>A	c.(139-141)CCT>ACT	p.P47T	FAM118A_uc003bga.3_Missense_Mutation_p.P47T	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	47	Helical; (Potential).					integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCCCGGAATCCCTGCCCTTTG	0.597													A	45719147	C	A	45719147	3	1	189	1	0	0	0	0	1	0	0	0	5411	623	22	5	145	5	FAM118A	22	45719147	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	440107	45719147	5585419	4879	102736											
FAM118A	55007	broad.mit.edu	37	chr22	45719217	45719217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcagctggaggtgctgcAccccggagacgtcgccgagt	16	12	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:45719217A>G	uc003bfz.3	+	4	825	c.209A>G	c.(208-210)CAC>CGC	p.H70R	FAM118A_uc003bga.3_Missense_Mutation_p.H70R	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	70						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAGGTGCTGCACCCCGGAGAC	0.622													G	45719217	A	G	45719217	3	3	189	1	0	0	0	0	1	0	0	0	5411	159	6	3	215	3	FAM118A	22	45719217	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	70	45719217	5585349	4880	102737											
WNT7B	7477	broad.mit.edu	37	chr22	46318891	46318891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagccgtccgcgccggGcgacgtgcggttgcagagac	16	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:46318891G>A	uc003bgo.2	-	4	1269	c.895C>T	c.(895-897)CCC>TCC	p.P299S	WNT7B_uc010haa.2_Missense_Mutation_p.P303S	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	299					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGCGCCGGGCGACGTGCGG	0.642													A	46318891	G	A	46318891	3	1	189	1	0	0	0	0	1	0	0	0	17392	1203	42	2	158	2	WNT7B	22	46318891	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	599674	46318891	4985675	4881	102738											
WNT7B	7477	broad.mit.edu	37	chr22	46318963	46318963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcgcagtagttggGcgacttctcaatgtacacca	9	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:46318963G>T	uc003bgo.2	-	4	1197	c.823C>A	c.(823-825)CCC>ACC	p.P275T	WNT7B_uc010haa.2_Missense_Mutation_p.P279T	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	275					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTAGTTGGGCGACTTCTCA	0.667													T	46318963	G	T	46318963	3	4	189	1	0	0	0	0	1	0	0	0	17392	1203	42	5	230	5	WNT7B	22	46318963	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	72	46318963	4985603	4882	102739											
PPARA	5465	broad.mit.edu	37	chr22	46614282	46614282	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcacaagtgcctttctgtCgggatgtcacacaacggtag	10	10	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:46614282C>T	uc003bgw.1	+	6	758	c.492C>T	c.(490-492)GTC>GTT	p.V164V	PPARA_uc003bgx.1_Silent_p.V164V|PPARA_uc010hab.1_Silent_p.V164V|PPARA_uc003bha.2_Silent_p.V164V|PPARA_uc003bhb.1_Silent_p.V164V|PPARA_uc010hac.1_Missense_Mutation_p.S29L	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	164	Nuclear receptor.				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			ovary(1)|central_nervous_system(1)	2		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)	GCCTTTCTGTCGGGATGTCAC	0.488													T	46614282	C	T	46614282	2	4	189	1	0	0	0	0	0	0	0	1	12297	871	31	1		1	PPARA	22	46614282	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	295319	46614282	4690284	4883	102740											
PKDREJ	10343	broad.mit.edu	37	chr22	46655729	46655729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggattagggatcacaAtcaccttggccatcacatag	8	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:46655729A>G	uc003bhh.2	-	1	3491	c.3491T>C	c.(3490-3492)ATT>ACT	p.I1164T		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1164	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGGATCACAATCACCTTGGC	0.488													G	46655729	A	G	46655729	3	3	189	1	0	0	0	0	1	0	0	0	11970	101	4	3	3274	3	PKDREJ	22	46655729	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	41447	46655729	4648837	4884	102741											
CELSR1	9620	broad.mit.edu	37	chr22	46930187	46930187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggttgtacacggccaCattctcccggtccagccggc	10	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:46930187C>T	uc003bhw.1	-	1	2881	c.2881G>A	c.(2881-2883)GTG>ATG	p.V961M		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	961	Extracellular (Potential).|Cadherin 7.				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		TACACGGCCACATTCTCCCGG	0.607													T	46930187	C	T	46930187	3	4	189	1	0	0	0	0	1	0	0	0	3221	478	17	4	6303	4	CELSR1	22	46930187	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	274458	46930187	4374379	4885	102742											
GRAMD4	23151	broad.mit.edu	37	chr22	47068811	47068811	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccgaggctgcgcgccaagTacgacacgccctatatcatc	10	16	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:47068811T>A	uc003bhx.2	+	13	1195	c.1156T>A	c.(1156-1158)TAC>AAC	p.Y386N	GRAMD4_uc010had.2_Missense_Mutation_p.Y325N|GRAMD4_uc003bhy.2_5'Flank	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	386					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		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)		GCGCGCCAAGTACGACACGCC	0.607													A	47068811	T	A	47068811	3	1	189	1	0	0	0	0	1	0	0	0	6752	1638	57	5	1206	5	GRAMD4	22	47068811	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	138624	47068811	4235755	4886	102743											
BRD1	23774	broad.mit.edu	37	chr22	50197911	50197911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgcagcaggggggcccCgttcctggacagccgcttga	15	16	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50197911C>T	uc003biv.2	-	2	1952	c.1465G>A	c.(1465-1467)GGG>AGG	p.G489R	BRD1_uc011arf.1_Missense_Mutation_p.G84R|BRD1_uc011arg.1_Missense_Mutation_p.G543R|BRD1_uc011arh.1_Missense_Mutation_p.G489R|BRD1_uc003biu.3_Missense_Mutation_p.G489R	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	489					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGGGGGCCCCGTTCCTGGAC	0.612													T	50197911	C	T	50197911	3	4	189	1	0	0	0	0	1	0	0	0	1501	652	23	1	1755	1	BRD1	22	50197911	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3129100	50197911	1106655	4887	102744											
ALG12	79087	broad.mit.edu	37	chr22	50297546	50297546	+	Frame_Shift_Del	DEL	G	G	-													gtctgcaggtggacgttgaaGgggggcagttgggtcaggtt							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50297545_50297545AG>A	uc003biy.3	-	9	1682	c.1408_1408CT>T	c.(1408-1410)ttcfs	p.F470fs		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	470					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane		p.F470fs*>20(2)		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)		TGGACGTTGAAGGGGGGCAGT	0.672													-	50297546	G	-	50297546	7	5	189	1	0	1	0	1	0	0	0	0	514	987	35	0	63	0	ALG12	22	50297546	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	99635	50297546	1007020	4888	102745											
TRABD	80305	broad.mit.edu	37	chr22	50635925	50635925	+	Frame_Shift_Del	DEL	C	C	-													cacctgggtgaccgacccatCcccgtcaccttcaagagggc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50635924_50635924TC>T	uc003bjs.1	+	6	683	c.578_578TC>T	c.(577-579)atcfs	p.I193fs	TRABD_uc003bjr.2_Frame_Shift_Del_p.I77fs	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	Homo sapiens TraB domain containing (TRABD), mRNA.	193										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)		GACCGACCCATCCCCGTCACC	0.642													-	50635925	C	-	50635925	7	5	189	1	0	1	0	1	0	0	0	0	16432	845	30	0	601	0	TRABD	22	50635925	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	338379	50635925	668641	4889	102746											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664613	50664613	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagccatgtgtccagtacaActtatctaaggtagggtgaa	11	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50664613A>G	uc003bkb.1	-	9	2211	c.1699T>C	c.(1699-1701)TTG>CTG	p.L567L	TUBGCP6_uc010har.1_Silent_p.L567L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	567					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		GTCCAGTACAACTTATCTAAG	0.577													G	50664613	A	G	50664613	2	3	189	1	0	0	0	0	0	0	0	1	16767	40	2	3		3	TUBGCP6	22	50664613	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	28688	50664613	639953	4890	102747											
PLXNB2	23654	broad.mit.edu	37	chr22	50728169	50728169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggcgcagccacggagGcggccaggcaggtgccaaag	17	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50728169G>A	uc003bkv.3	-	3	951	c.845C>T	c.(844-846)GCC>GTC	p.A282V		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	282	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		AGCCACGGAGGCGGCCAGGCA	0.662													A	50728169	G	A	50728169	3	1	189	1	0	0	0	0	1	0	0	0	12124	1203	42	2	4811	2	PLXNB2	22	50728169	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	63556	50728169	576397	4891	102748											
SBF1	6305	broad.mit.edu	37	chr22	50897733	50897733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctaagcgtgttgcgtccCgacgcgtcggcgtagcgggg	17	13	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50897733C>T	uc003blh.2	-	28	3972	c.3777G>A	c.(3775-3777)TCG>TCA	p.S1259S	SBF1_uc011arx.1_Silent_p.S923S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1259	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		TGTTGCGTCCCGACGCGTCGG	0.677													T	50897733	C	T	50897733	2	4	189	1	0	0	0	0	0	0	0	1	13858	639	23	1		1	SBF1	22	50897733	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	169564	50897733	406833	4892	102749											
SBF1	6305	broad.mit.edu	37	chr22	50898519	50898519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctttccaccaggctgctcAtggtcatgcggtcggagggc	13	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50898519A>G	uc003blh.2	-	26	3548	c.3353T>C	c.(3352-3354)ATG>ACG	p.M1118T	SBF1_uc011arx.1_Missense_Mutation_p.M782T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1118					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		CAGGCTGCTCATGGTCATGCG	0.677													G	50898519	A	G	50898519	3	3	189	1	0	0	0	0	1	0	0	0	13858	217	8	3	2392	3	SBF1	22	50898519	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	786	50898519	406047	4893	102750											
SBF1	6305	broad.mit.edu	37	chr22	50900413	50900413	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccccttgaggtggtcgctGgtgaccccactctccgtgca	12	15	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50900413G>T	uc003blh.2	-	20	2727	c.2532C>A	c.(2530-2532)ACC>ACA	p.T844T	SBF1_uc011arx.1_Silent_p.T508T|SBF1_uc003bli.2_Silent_p.T845T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	844					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		GGTGGTCGCTGGTGACCCCAC	0.612													T	50900413	G	T	50900413	2	4	189	1	0	0	0	0	0	0	0	1	13858	1335	47	5		5	SBF1	22	50900413	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1894	50900413	404153	4894	102751											
SBF1	6305	broad.mit.edu	37	chr22	50906258	50906258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtcaagcaggcgcagTagtggcgctcggagttgatg	17	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50906258T>C	uc003blh.2	-	3	431	c.236A>G	c.(235-237)TAC>TGC	p.Y79C	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.Y79C	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	79	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		GCAGGCGCAGTAGTGGCGCTC	0.612													C	50906258	T	C	50906258	3	2	189	1	0	0	0	0	1	0	0	0	13858	1638	57	3	5601	3	SBF1	22	50906258	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	5845	50906258	398308	4895	102752											
MIOX	55586	broad.mit.edu	37	chr22	50928213	50928213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagtgcccggacctgccGgacgtggacaagctgcggcc	14	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50928213G>A	uc003bll.1	+	10	900	c.786G>A	c.(784-786)CCG>CCA	p.P262P	MIOX_uc003blm.1_Missense_Mutation_p.G258R|MIOX_uc003bln.1_Missense_Mutation_p.G219R	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	262					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		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)		CGGACCTGCCGGACGTGGACA	0.652													A	50928213	G	A	50928213	2	1	189	1	0	0	0	0	0	0	0	1	9590	1103	39	1		1	MIOX	22	50928213	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	21955	50928213	376353	4896	102753											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987826	50987826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggctgctctatgccatcGgtggcgaatgcctgtacagc	13	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:50987826G>A	uc003bmi.2	+	1	1365	c.1231G>A	c.(1231-1233)GGT>AGT	p.G411S		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	411	Kelch 3.									central_nervous_system(1)	1		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)		CTATGCCATCGGTGGCGAATG	0.662													A	50987826	G	A	50987826	3	1	189	1	0	0	0	0	1	0	0	0	8361	1116	39	1	1233	1	KLHDC7B	22	50987826	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	59613	50987826	316740	4897	102754											
CHKB	1120	broad.mit.edu	37	chr22	51018465	51018465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggccattcctcgtgagTataatcataaacccactcac	6	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:51018465T>C	uc003bms.2	-	8	1083	c.865A>G	c.(865-867)ACT>GCT	p.T289A	CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Missense_Mutation_p.T80A|CHKB-CPT1B_uc003bmu.2_Missense_Mutation_p.T168A|CHKB_uc003bmv.2_Missense_Mutation_p.T289A|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	289					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		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)	TCCTCGTGAGTATAATCATAA	0.532													C	51018465	T	C	51018465	3	2	189	1	0	0	0	0	1	0	0	0	3348	1638	57	3	338	3	CHKB	22	51018465	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	30639	51018465	286101	4898	102755											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51040316	51040316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctacgactcagaccactGtgagaaggtgggagaagagt	14	8	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:51040316G>A	uc003bmx.2	+	2	281	c.164G>A	c.(163-165)TGT>TAT	p.C55Y	MAPK8IP2_uc003bmy.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	55					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			large_intestine(2)|central_nervous_system(1)	3		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)		TCAGACCACTGTGAGAAGGTG	0.537													A	51040316	G	A	51040316	3	1	189	1	0	0	0	0	1	0	0	0	9285	1377	48	4	170	4	MAPK8IP2	22	51040316	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	21851	51040316	264250	4899	102756											
ACR	49	broad.mit.edu	37	chr22	51177745	51177745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacccacagggtggtgtcCgcatcgtcggcgggaaggct	15	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chr22:51177745C>T	uc003bnh.3	+	2	136	c.124C>T	c.(124-126)CGC>TGC	p.R42C	uc003bng.2_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.R42C	NM_001097	NP_001088	P10323	ACRO_HUMAN	acrosin precursor	42					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding				0		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;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTGGTGTCCGCATCGTCGG	0.607													T	51177745	C	T	51177745	3	4	189	1	0	0	0	0	1	0	0	0	169	652	23	1	130	1	ACR	22	51177745	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	137429	51177745	126821	4900	102757											
PPP2R3B	28227	broad.mit.edu	37	chrX	301587	301587	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgctgtccagccttcGgcactgctcctcgtagaagt	11	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:301587G>A	uc004cpg.2	-	10	1465	c.1264C>T	c.(1264-1266)CGA>TGA	p.R422*	PPP2R3B_uc004cpf.2_Nonsense_Mutation_p.R23*	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	422	EF-hand.				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				0		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)				TCCAGCCTTCGGCACTGCTCC	0.642													A	301587	G	A	301587	4	1	189	1	0	0	0	0	0	1	0	0	12389	1124	39	1	479	1	PPP2R3B	23	301587	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08		301587	154968973	4901	102758											
CRLF2	64109	broad.mit.edu	37	chrX	1321300	1321300	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtcgaaggggctccggTactgaacctcatagaggaga	15	9	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:1321300T>C	uc004cpm.1	-	4		c.455A>G						Q9HC73	CRLF2_HUMAN	Homo sapiens mRNA for IL-XR, complete cds.							extracellular region|integral to membrane|plasma membrane	receptor activity			haematopoietic_and_lymphoid_tissue(7)	7		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)				GGGGCTCCGGTACTGAACCTC	0.637			Mis|T	P2RY8|IGH@	B-ALL|Downs associated ALL								C	1321300	T	C	1321300	1	2	189	0	1	0	0	0	0	0	0	0	3887	1638	57	3		3	CRLF2	23	1321300	RNA	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1019713	1321300	153949260	4902	102759											
ZBED1	9189	broad.mit.edu	37	chrX	2406722	2406722	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaaccgccgctgacgCcatcccccaaggagaacacc	8	17	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:2406722C>G	uc004cqg.2	-	2	2240	c.2039G>C	c.(2038-2040)GGC>GCC	p.G680A	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.G680A	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	680						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				GCCGCTGACGCCATCCCCCAA	0.612													G	2406722	C	G	2406722	3	3	189	1	0	0	0	0	1	0	0	0	17514	739	26	5	49	5	ZBED1	23	2406722	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1085422	2406722	152863838	4903	102760											
MXRA5	25878	broad.mit.edu	37	chrX	3227797	3227797	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttggagtcactgccgAgaatgttttttgccatgcac	10	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:3227797A>T	uc004crg.3	-	7	8604	c.8447T>A	c.(8446-8448)CTC>CAC	p.L2816H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2816	Ig-like C2-type 12.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCACTGCCGAGAATGTTTTT	0.468													T	3227797	A	T	3227797	3	4	189	1	0	0	0	0	1	0	0	0	10003	304	11	5	43	5	MXRA5	23	3227797	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	821075	3227797	152042763	4904	102761											
MXRA5	25878	broad.mit.edu	37	chrX	3239210	3239210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcttagtggtggtggTttgtcccaaagacatgagaa	14	6	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:3239210T>C	uc004crg.3	-	5	4673	c.4516A>G	c.(4516-4518)ACC>GCC	p.T1506A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1506						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGTGGTGGTTTGTCCCAAA	0.473													C	3239210	T	C	3239210	3	2	189	1	0	0	0	0	1	0	0	0	10003	1725	60	3	3982	3	MXRA5	23	3239210	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	11413	3239210	152031350	4905	102762											
PRKX	5613	broad.mit.edu	37	chrX	3573212	3573212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctaccagcttcttggcgaAcccaaagtccgtgagcttaa	9	12	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:3573212A>G	uc010nde.2	-	3	944	c.577T>C	c.(577-579)TTC>CTC	p.F193L		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	193	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TTCTTGGCGAACCCAAAGTCC	0.517													G	3573212	A	G	3573212	3	3	189	1	0	0	0	0	1	0	0	0	12527	43	2	3	523	3	PRKX	23	3573212	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	334002	3573212	151697348	4906	102763											
PNPLA4	8228	broad.mit.edu	37	chrX	7889822	7889822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggttttggcgttggtgaTggatacgtgcagtcggttct	15	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:7889822T>C	uc011mhq.1	-	4	505	c.343A>G	c.(343-345)ATC>GTC	p.I115V	PNPLA4_uc011mhr.1_Missense_Mutation_p.I115V|PNPLA4_uc011mhs.1_Missense_Mutation_p.I28V	NM_004650	NP_004641	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	115	Patatin.				lipid catabolic process		triglyceride lipase activity				0		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GCGTTGGTGATGGATACGTGC	0.458													C	7889822	T	C	7889822	3	2	189	1	0	0	0	0	1	0	0	0	12167	1464	51	3	434	3	PNPLA4	23	7889822	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4316610	7889822	147380738	4907	102764											
KAL1	3730	broad.mit.edu	37	chrX	8538577	8538577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttcttctttgttgggAcaagagacttactgctgacc	9	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:8538577A>G	uc004csf.2	-	7	1175	c.1025T>C	c.(1024-1026)GTC>GCC	p.V342A		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	342	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			ovary(3)|pancreas(1)	4						CTTTGTTGGGACAAGAGACTT	0.502													G	8538577	A	G	8538577	3	3	189	1	0	0	0	0	1	0	0	0	7974	275	10	3	1049	3	KAL1	23	8538577	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	648755	8538577	146731983	4908	102765											
CLCN4	1183	broad.mit.edu	37	chrX	10181871	10181871	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcatctacgaggcccacaTccacttaaatgggtaccctt	8	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:10181871T>A	uc004csy.3	+	11	2157	c.1727T>A	c.(1726-1728)ATC>AAC	p.I576N	CLCN4_uc011mid.1_Missense_Mutation_p.I482N	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	576	Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GAGGCCCACATCCACTTAAAT	0.607													A	10181871	T	A	10181871	3	1	189	1	0	0	0	0	1	0	0	0	3465	1435	50	5	1761	5	CLCN4	23	10181871	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1643294	10181871	145088689	4909	102766											
CLCN4	1183	broad.mit.edu	37	chrX	10188763	10188763	+	Frame_Shift_Del	DEL	C	C	-													tcatgtacttcacggaggaaCcccccgagctgccggccaac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:10188762_10188762AC>A	uc004csy.4	+	11	2467	c.2037_2037AC>A	c.(2035-2037)gaafs	p.E679fs	CLCN4_uc011mid.2_Frame_Shift_Del_p.E585fs	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	679						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGC	0.567													-	10188763	C	-	10188763	7	5	189	1	0	1	0	1	0	0	0	0	3465	507	18	0	2076	0	CLCN4	23	10188763	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	6892	10188763	145081797	4910	102767											
MID1	4281	broad.mit.edu	37	chrX	10534991	10534991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggtgccgcccaaccagTttacacaaggcacagattaa	9	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:10534991T>C	uc004cte.3	-	2	788	c.597A>G	c.(595-597)AAA>AAG	p.K199K	MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Silent_p.K199K|MID1_uc004cth.3_Intron|MID1_uc004ctk.3_Silent_p.K199K|MID1_uc004cti.3_Silent_p.K199K|MID1_uc004ctj.3_Silent_p.K199K|MID1_uc011mie.1_Intron|MID1_uc004ctm.1_Silent_p.K199K|MID1_uc004ctn.1_Silent_p.K199K|MID1_uc004cto.1_Intron|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Silent_p.K199K|MID1_uc004ctu.2_Silent_p.K199K|MID1_uc004ctv.2_Intron|MID1_uc004ctw.2_Intron|MID1_uc010ndy.1_Silent_p.K199K|uc010ndz.1_5'Flank|MID1_uc004cty.2_Intron|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Silent_p.K199K|MID1_uc010nea.1_Intron|MID1_uc004cuc.1_Silent_p.K199K|MID1_uc004cud.1_Silent_p.K199K|MID1_uc004cue.1_Intron|MID1_uc004cuf.1_Intron	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	199	B box-type 2.				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			ovary(2)|pancreas(1)	3						GCCCAACCAGTTTACACAAGG	0.527													C	10534991	T	C	10534991	2	2	189	1	0	0	0	0	0	0	0	1	9576	1722	60	3		3	MID1	23	10534991	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	346228	10534991	144735569	4911	102768											
MSL3	10943	broad.mit.edu	37	chrX	11778586	11778586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaatcgtagattacagCgtaaattggcaagaaaagct	9	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:11778586C>T	uc004cuw.2	+	3	355	c.250C>T	c.(250-252)CGT>TGT	p.R84C	MSL3_uc004cuv.1_Missense_Mutation_p.R84C|MSL3_uc004cux.2_Missense_Mutation_p.R25C|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Missense_Mutation_p.R72C|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	84	Chromo.				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			ovary(1)	1						TAGATTACAGCGTAAATTGGC	0.343													T	11778586	C	T	11778586	3	4	189	1	0	0	0	0	1	0	0	0	9879	768	27	1	260	1	MSL3	23	11778586	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	1243595	11778586	143491974	4912	102769											
FRMPD4	9758	broad.mit.edu	37	chrX	12728653	12728653	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacacagcgacccaggaaAcaggtattctcttcctgaac	7	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:12728653A>C	uc004cuz.1	+	14	2112	c.1606A>C	c.(1606-1608)ACA>CCA	p.T536P	FRMPD4_uc011mij.1_Missense_Mutation_p.T528P	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	536					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GACCCAGGAAACAGGTATTCT	0.443													C	12728653	A	C	12728653	3	2	189	1	0	0	0	0	1	0	0	0	6059	43	2	5	1660	5	FRMPD4	23	12728653	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	950067	12728653	142541907	4913	102770											
PRPS2	5634	broad.mit.edu	37	chrX	12837742	12837742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgtgaaggaccgtgtggCcatcctcgtggatgacatgg	15	10	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:12837742C>T	uc004cvb.2	+	5	771	c.647C>T	c.(646-648)GCC>GTC	p.A216V	PRPS2_uc004cva.2_Missense_Mutation_p.A219V|PRPS2_uc010nec.2_Intron	NM_002765	NP_002756	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	216	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0						GACCGTGTGGCCATCCTCGTG	0.557													T	12837742	C	T	12837742	3	4	189	1	0	0	0	0	1	0	0	0	12580	739	26	2	674	2	PRPS2	23	12837742	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	109089	12837742	142432818	4914	102771											
GEMIN8	54960	broad.mit.edu	37	chrX	14027269	14027269	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtccaggcgctctgcAtccagctgctgctgccgccc	11	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:14027269A>T	uc004cwb.2	-	5	835	c.492T>A	c.(490-492)GAT>GAA	p.D164E	GEMIN8_uc004cwc.2_Missense_Mutation_p.D164E|GEMIN8_uc004cwd.2_Missense_Mutation_p.D164E	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	164	Potential.				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						GGCGCTCTGCATCCAGCTGCT	0.597													T	14027269	A	T	14027269	3	4	189	1	0	0	0	0	1	0	0	0	6334	214	8	5	240	5	GEMIN8	23	14027269	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1189527	14027269	141243291	4915	102772											
GLRA2	2742	broad.mit.edu	37	chrX	14548222	14548222	+	Frame_Shift_Del	DEL	T	T	-													ttttgacagccttgtttgcaTttttcttagagacaaaccac							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:14548222delT	uc010nep.2	+	2	375	c.43delT	c.(43-45)TTTfs	p.F15fs	GLRA2_uc010neq.2_Frame_Shift_Del_p.F15fs|GLRA2_uc004cwe.3_Frame_Shift_Del_p.F15fs|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_5'Flank	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	15					neuropeptide signaling pathway	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			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTTGTTTGCATTTTTCTTAGA	0.363													-	14548222	T	-	14548222	7	5	189	1	0	1	0	1	0	0	0	0	6455	1493	52	0	45	0	GLRA2	23	14548222	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	520953	14548222	140722338	4916	102773											
GLRA2	2742	broad.mit.edu	37	chrX	14599525	14599525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaagtgctctacagtaTcaggtaagcctccattggct	10	10	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:14599525T>C	uc010nep.2	+	5	823	c.491T>C	c.(490-492)ATC>ACC	p.I164T	GLRA2_uc010neq.2_Missense_Mutation_p.I164T|GLRA2_uc004cwe.3_Missense_Mutation_p.I164T|GLRA2_uc011mio.1_Missense_Mutation_p.I75T|GLRA2_uc011mip.1_Missense_Mutation_p.I142T	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	164	Extracellular (Probable).				neuropeptide signaling pathway	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			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTCTACAGTATCAGGTAAGCC	0.438													C	14599525	T	C	14599525	3	2	189	1	0	0	0	0	1	0	0	0	6455	1435	50	3	577	3	GLRA2	23	14599525	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	51303	14599525	140671035	4917	102774											
FANCB	2187	broad.mit.edu	37	chrX	14883327	14883327	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatattcaaaaacattAttctttttatttttttctat	0	4	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:14883327A>G	uc004cwg.1	-	3	574	c.306T>C	c.(304-306)AAT>AAC	p.N102N	FANCB_uc004cwh.1_Silent_p.N102N	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	102					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					CAAAAACATTATTCTTTTTAT	0.303								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	14883327	A	G	14883327	2	3	189	1	0	0	0	0	0	0	0	1	5663	446	16	3		3	FANCB	23	14883327	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	283802	14883327	140387233	4918	102775											
ASB11	140456	broad.mit.edu	37	chrX	15311390	15311390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacatgcagcactgccgCtgcagcaagcattgaagagg	12	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:15311390C>T	uc004cwp.1	-	4	422	c.422G>A	c.(421-423)AGC>AAC	p.S141N	ASB11_uc004cwo.1_Missense_Mutation_p.S120N|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.S124N	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	141	ANK 3.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					AGCACTGCCGCTGCAGCAAGC	0.537													T	15311390	C	T	15311390	3	4	189	1	0	0	0	0	1	0	0	0	1015	797	28	2	565	2	ASB11	23	15311390	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	428063	15311390	139959170	4919	102776											
BMX	660	broad.mit.edu	37	chrX	15552464	15552464	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaacacaattcagcaggTaacttattttagtttttctt	4	8	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:15552464T>C	uc004cww.2	+	12	1335	c.1147_splice	c.e12+2	p.G383_splice	BMX_uc004cwx.3_Splice_Site_p.G383_splice|BMX_uc004cwy.3_Splice_Site_p.G383_splice	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine 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			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					ATTCAGCAGGTAACTTATTTT	0.333													C	15552464	T	C	15552464	5	2	189	1	0	0	0	0	0	0	1	0	1473	1652	57	3	1191	3	BMX	23	15552464	Splice_Site	SNP	T	TCGA-CG-5721-01A-11D-1600-08	241074	15552464	139718096	4920	102777											
BMX	660	broad.mit.edu	37	chrX	15555366	15555366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtatgatgttgctgtTaagatgatcaaggagggctc	15	5	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:15555366T>C	uc004cww.2	+	14	1520	c.1332T>C	c.(1330-1332)GTT>GTC	p.V444V	BMX_uc004cwx.3_Silent_p.V444V|BMX_uc004cwy.3_Silent_p.V444V	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	444	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			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					ATGTTGCTGTTAAGATGATCA	0.473													C	15555366	T	C	15555366	2	2	189	1	0	0	0	0	0	0	0	1	1473	1741	61	3		3	BMX	23	15555366	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2902	15555366	139715194	4921	102778											
SYAP1	94056	broad.mit.edu	37	chrX	16775393	16775393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagaaatggagcaactaGtgcttgacaaaaagcaagag	12	5	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:16775393G>A	uc004cxp.2	+	8	985	c.892G>A	c.(892-894)GTG>ATG	p.V298M	SYAP1_uc004cxo.2_Missense_Mutation_p.V298M|SYAP1_uc011miv.1_Missense_Mutation_p.V264M	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	298										skin(1)	1	Hepatocellular(33;0.0997)					GGAGCAACTAGTGCTTGACAA	0.393													A	16775393	G	A	16775393	3	1	189	1	0	0	0	0	1	0	0	0	15423	1029	36	4	922	4	SYAP1	23	16775393	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1220027	16775393	138495167	4922	102779											
SCML1	6322	broad.mit.edu	37	chrX	17771410	17771410	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggctctgctcctactcacGagtgacgtgttgctgaagca	11	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:17771410G>A	uc004cyb.2	+	8	1213	c.888G>A	c.(886-888)ACG>ACA	p.T296T	SCML1_uc004cyc.2_Silent_p.T269T|SCML1_uc004cyd.2_Silent_p.T175T|SCML1_uc004cye.2_Silent_p.T175T	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	296	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)					TCCTACTCACGAGTGACGTGT	0.413													A	17771410	G	A	17771410	2	1	189	1	0	0	0	0	0	0	0	1	13909	1045	37	1		1	SCML1	23	17771410	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	996017	17771410	137499150	4923	102780											
RAI2	10742	broad.mit.edu	37	chrX	17819375	17819375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggattcagaactctgaggCatcgggatggggatgggaat	16	5	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:17819375C>T	uc004cyf.2	-	3	1326	c.756G>A	c.(754-756)ATG>ATA	p.M252I	RAI2_uc004cyg.2_Missense_Mutation_p.M252I|RAI2_uc010nfa.2_Missense_Mutation_p.M252I|RAI2_uc004cyh.3_Missense_Mutation_p.M252I|RAI2_uc011miy.1_Missense_Mutation_p.M202I	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	252	Pro-rich.				embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)					AACTCTGAGGCATCGGGATGG	0.587													T	17819375	C	T	17819375	3	4	189	1	0	0	0	0	1	0	0	0	13009	710	25	2	840	2	RAI2	23	17819375	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	47965	17819375	137451185	4924	102781											
GPR64	10149	broad.mit.edu	37	chrX	19020962	19020962	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggcaagcttatacatAccccaaccgacaatgcagaa	7	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:19020962A>G	uc004cyx.2	-	24	2394	c.2230_splice	c.e24+1	p.G744_splice	GPR64_uc004cyy.2_Splice_Site_p.G741_splice|GPR64_uc004cyz.2_Splice_Site_p.G730_splice|GPR64_uc004czb.2_Splice_Site_p.G744_splice|GPR64_uc004czc.2_Splice_Site_p.G728_splice|GPR64_uc004czd.2_Splice_Site_p.G720_splice|GPR64_uc004cze.2_Splice_Site_p.G714_splice|GPR64_uc004czf.2_Splice_Site_p.G706_splice|GPR64_uc004cza.2_Splice_Site_p.G722_splice|GPR64_uc004cyw.2_Splice_Site_p.G728_splice|GPR64_uc010nfj.2_Splice_Site_p.G625_splice	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1						neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GCTTATACATACCCCAACCGA	0.423													G	19020962	A	G	19020962	5	3	189	1	0	0	0	0	0	0	1	0	6705	405	14	3	845	3	GPR64	23	19020962	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1201587	19020962	136249598	4925	102782											
GPR64	10149	broad.mit.edu	37	chrX	19031984	19031984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggaagctatgggagctgAaggctggggtgaaaggggtt	20	4	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:19031984A>G	uc004cyx.2	-	16	1083	c.919T>C	c.(919-921)TCA>CCA	p.S307P	GPR64_uc004cyy.2_Missense_Mutation_p.S304P|GPR64_uc004cyz.2_Missense_Mutation_p.S293P|GPR64_uc004czb.2_Missense_Mutation_p.S307P|GPR64_uc004czc.2_Missense_Mutation_p.S291P|GPR64_uc004czd.2_Missense_Mutation_p.S283P|GPR64_uc004cze.2_Missense_Mutation_p.S277P|GPR64_uc004czf.2_Missense_Mutation_p.S269P|GPR64_uc004cza.2_Missense_Mutation_p.S285P|GPR64_uc004cyw.2_Missense_Mutation_p.S291P|GPR64_uc010nfj.2_Missense_Mutation_p.S277P	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	307	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					ATGGGAGCTGAAGGCTGGGGT	0.557													G	19031984	A	G	19031984	3	3	189	1	0	0	0	0	1	0	0	0	6705	246	9	3	2190	3	GPR64	23	19031984	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	11022	19031984	136238576	4926	102783											
GPR64	10149	broad.mit.edu	37	chrX	19041550	19041550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctttgggcctctgctgTagcacacattataaagtaag	9	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:19041550T>C	uc004cyx.2	-	13	696	c.532A>G	c.(532-534)ACA>GCA	p.T178A	GPR64_uc004cyy.2_Missense_Mutation_p.T175A|GPR64_uc004cyz.2_Missense_Mutation_p.T164A|GPR64_uc004czb.2_Missense_Mutation_p.T178A|GPR64_uc004czc.2_Missense_Mutation_p.T162A|GPR64_uc004czd.2_Missense_Mutation_p.T154A|GPR64_uc004cze.2_Missense_Mutation_p.T148A|GPR64_uc004czf.2_Missense_Mutation_p.T140A|GPR64_uc004cza.2_Missense_Mutation_p.T156A|GPR64_uc004cyw.2_Missense_Mutation_p.T162A|GPR64_uc010nfj.2_Missense_Mutation_p.T148A	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	178	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GCCTCTGCTGTAGCACACATT	0.308													C	19041550	T	C	19041550	3	2	189	1	0	0	0	0	1	0	0	0	6705	1638	57	3	2589	3	GPR64	23	19041550	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9566	19041550	136229010	4927	102784											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-													tgttcccaaagaggatgacaGgggggagggcgccgctgagg							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:19560215delG	uc004czm.2	-	16	2036	c.1720delC	c.(1720-1722)CTGfs	p.L574fs	SH3KBP1_uc011mje.1_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.1_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.2_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.2_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	574					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				0						GAGGATGACAGGGGGGAGGGC	0.647													-	19560215	G	-	19560215	7	5	189	1	0	1	0	1	0	0	0	0	14255	991	35	0	289	0	SH3KBP1	23	19560215	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	518665	19560215	135710345	4928	102785											
RPS6KA3	6197	broad.mit.edu	37	chrX	20190977	20190977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagtaaactgaatactgtTcctgtgtaactgctacaaaa	6	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:20190977T>C	uc004czu.2	-	15	1240	c.1240A>G	c.(1240-1242)AAC>GAC	p.N414D	RPS6KA3_uc011mjk.1_Missense_Mutation_p.N384D|RPS6KA3_uc004czv.2_Missense_Mutation_p.N401D|RPS6KA3_uc011mjl.1_Missense_Mutation_p.N385D|RPS6KA3_uc011mjm.1_Missense_Mutation_p.N386D	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	414					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			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						TGAATACTGTTCCTGTGTAAC	0.343													C	20190977	T	C	20190977	3	2	189	1	0	0	0	0	1	0	0	0	13652	1783	62	3	1014	3	RPS6KA3	23	20190977	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	630762	20190977	135079583	4929	102786											
CNKSR2	22866	broad.mit.edu	37	chrX	21581506	21581506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattcattgctacctagttTacaaatggatgcactgagac	7	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:21581506T>C	uc004czx.1	+	13	1580	c.1544T>C	c.(1543-1545)TTA>TCA	p.L515S	CNKSR2_uc004czw.2_Missense_Mutation_p.L515S|CNKSR2_uc011mjn.1_Missense_Mutation_p.L466S|CNKSR2_uc011mjo.1_Missense_Mutation_p.L485S|CNKSR2_uc004czy.2_Missense_Mutation_p.L107S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	515	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						CTACCTAGTTTACAAATGGAT	0.393													C	21581506	T	C	21581506	3	2	189	1	0	0	0	0	1	0	0	0	3607	1764	61	3	1594	3	CNKSR2	23	21581506	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1390529	21581506	133689054	4930	102787											
MBTPS2	51360	broad.mit.edu	37	chrX	21896666	21896666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaactcaagtttgcagaAccaataaagactgtaaaaaa	6	7	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:21896666A>G	uc004dae.2	+	9	1314	c.1117A>G	c.(1117-1119)ACC>GCC	p.T373A	MBTPS2_uc010nfr.2_5'UTR	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	373	Cys-rich.|Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1						AGTTTGCAGAACCAATAAAGA	0.323													G	21896666	A	G	21896666	3	3	189	1	0	0	0	0	1	0	0	0	9362	43	2	3	1151	3	MBTPS2	23	21896666	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	315160	21896666	133373894	4931	102788											
MBTPS2	51360	broad.mit.edu	37	chrX	21896713	21896713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcaagtttctgtataatAccttctttggaaactcacac	5	9	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:21896713A>G	uc004dae.2	+	9	1361	c.1164A>G	c.(1162-1164)ATA>ATG	p.I388M	MBTPS2_uc010nfr.2_Translation_Start_Site	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	388	Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1						TCTGTATAATACCTTCTTTGG	0.393													G	21896713	A	G	21896713	3	3	189	1	0	0	0	0	1	0	0	0	9362	381	14	3	1198	3	MBTPS2	23	21896713	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	47	21896713	133373847	4932	102789											
PHEX	5251	broad.mit.edu	37	chrX	22196458	22196458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtatttagcacagtctgaTttcttctggctaagaaaagc	8	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:22196458T>G	uc004dah.2	+	14	1754	c.1551T>G	c.(1549-1551)GAT>GAG	p.D517E	PHEX_uc011mjr.1_Missense_Mutation_p.D517E|PHEX_uc011mjs.1_Missense_Mutation_p.D420E	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	517	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						CACAGTCTGATTTCTTCTGGC	0.358													G	22196458	T	G	22196458	3	3	189	1	0	0	0	0	1	0	0	0	11819	1490	52	5	1605	5	PHEX	23	22196458	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	299745	22196458	133074102	4933	102790											
DMD	1756	broad.mit.edu	37	chrX	31222113	31222113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggacacttggctcaatgtTactgcccccaaaggatgcaa	9	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:31222113T>C	uc004dda.1	-	67	10016	c.9772A>G	c.(9772-9774)AAC>GAC	p.N3258D	DMD_uc004dcq.1_Missense_Mutation_p.N529D|DMD_uc004dcr.1_Missense_Mutation_p.N798D|DMD_uc004dcs.1_Missense_Mutation_p.N798D|DMD_uc004dct.1_Missense_Mutation_p.N798D|DMD_uc004dcu.1_Missense_Mutation_p.N798D|DMD_uc004dcv.1_Missense_Mutation_p.N798D|DMD_uc004dcw.2_Missense_Mutation_p.N1914D|DMD_uc004dcx.2_Missense_Mutation_p.N1917D|DMD_uc004dcz.2_Missense_Mutation_p.N3135D|DMD_uc004dcy.1_Missense_Mutation_p.N3254D|DMD_uc004ddb.1_Missense_Mutation_p.N3250D|DMD_uc004dcm.1_Missense_Mutation_p.N190D|DMD_uc004dcn.1_Missense_Mutation_p.N190D|DMD_uc004dco.1_Missense_Mutation_p.N190D|DMD_uc004dcp.1_Missense_Mutation_p.N190D|DMD_uc011mkb.1_Missense_Mutation_p.N190D|DMD_uc010ngm.2_Missense_Mutation_p.N190D	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3258	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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				GGCTCAATGTTACTGCCCCCA	0.403													C	31222113	T	C	31222113	3	2	189	1	0	0	0	0	1	0	0	0	4580	1754	61	3	1427	3	DMD	23	31222113	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	9025655	31222113	124048447	4934	102791											
DMD	1756	broad.mit.edu	37	chrX	31496459	31496459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttcgtagaagccgagTgacattctgggctctctcct	10	12	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:31496459T>C	uc004dda.1	-	59	8945	c.8701A>G	c.(8701-8703)ACT>GCT	p.T2901A	DMD_uc004dcq.1_Missense_Mutation_p.T172A|DMD_uc004dcr.1_Missense_Mutation_p.T441A|DMD_uc004dcs.1_Missense_Mutation_p.T441A|DMD_uc004dct.1_Missense_Mutation_p.T441A|DMD_uc004dcu.1_Missense_Mutation_p.T441A|DMD_uc004dcv.1_Missense_Mutation_p.T441A|DMD_uc004dcw.2_Missense_Mutation_p.T1557A|DMD_uc004dcx.2_Missense_Mutation_p.T1560A|DMD_uc004dcz.2_Missense_Mutation_p.T2778A|DMD_uc004dcy.1_Missense_Mutation_p.T2897A|DMD_uc004ddb.1_Missense_Mutation_p.T2893A	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2901	Spectrin 20.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				AGAAGCCGAGTGACATTCTGG	0.438													C	31496459	T	C	31496459	3	2	189	1	0	0	0	0	1	0	0	0	4580	1696	59	3	2554	3	DMD	23	31496459	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	274346	31496459	123774101	4935	102792											
FAM47A	158724	broad.mit.edu	37	chrX	34150216	34150216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgggagacggacagccGtagcggaagtcgtccatgcc	14	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:34150216G>A	uc004ddg.2	-	1	213	c.180C>T	c.(178-180)TAC>TAT	p.Y60Y		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	60										ovary(4)|central_nervous_system(1)	5						ACGGACAGCCGTAGCGGAAGT	0.567													A	34150216	G	A	34150216	2	1	189	1	0	0	0	0	0	0	0	1	5569	1140	40	1		1	FAM47A	23	34150216	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2653757	34150216	121120344	4936	102793											
SYTL5	94122	broad.mit.edu	37	chrX	37935887	37935887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaaaactgacactgggCggagctatagcttggactta	10	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:37935887C>T	uc004ddu.2	+	7	1156	c.622C>T	c.(622-624)CGG>TGG	p.R208W	SYTL5_uc004ddv.2_Missense_Mutation_p.R208W|SYTL5_uc004ddx.2_Missense_Mutation_p.R208W	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	208					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						TGACACTGGGCGGAGCTATAG	0.383													T	37935887	C	T	37935887	3	4	189	1	0	0	0	0	1	0	0	0	15483	759	27	1	640	1	SYTL5	23	37935887	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3785671	37935887	117334673	4937	102794											
BCOR	54880	broad.mit.edu	37	chrX	39911469	39911469	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccagatctaacagctcctTactttcagggttgaaggctt	8	11	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:39911469T>A	uc004den.3	-	15	5453	c.5161A>T	c.(5161-5163)AAG>TAG	p.K1721*	BCOR_uc004dep.3_Nonsense_Mutation_p.K1687*|BCOR_uc004deo.3_Nonsense_Mutation_p.K1669*|BCOR_uc010nhb.2_3'UTR|BCOR_uc004dem.3_Nonsense_Mutation_p.K1687*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1721					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						AACAGCTCCTTACTTTCAGGG	0.488													A	39911469	T	A	39911469	4	1	189	1	0	0	0	0	0	1	0	0	1386	1763	61	5	110	5	BCOR	23	39911469	Nonsense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1975582	39911469	115359091	4938	102795											
ATP6AP2	10159	broad.mit.edu	37	chrX	40450603	40450603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcagtgtcatttcgTaccctttggagaatgtgagt	11	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:40450603T>C	uc004det.2	+	3	388	c.286T>C	c.(286-288)TAC>CAC	p.Y96H	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.Y20H|ATP6AP2_uc011mkm.1_Missense_Mutation_p.Y96H|ATP6AP2_uc011mkn.1_Missense_Mutation_p.Y96H	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	96	Extracellular (Potential).				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				0						TGTCATTTCGTACCCTTTGGA	0.423													C	40450603	T	C	40450603	3	2	189	1	0	0	0	0	1	0	0	0	1167	1638	57	3	296	3	ATP6AP2	23	40450603	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	539134	40450603	114819957	4939	102796											
ATP6AP2	10159	broad.mit.edu	37	chrX	40464919	40464919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccttggccttggctgtgaTtatcacctcttacaatattt	7	11	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:40464919T>C	uc004det.2	+	9	1067	c.965T>C	c.(964-966)ATT>ACT	p.I322T	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.I246T|ATP6AP2_uc011mkm.1_Missense_Mutation_p.I290T|ATP6AP2_uc011mkn.1_Missense_Mutation_p.I244T|ATP6AP2_uc004deu.1_Missense_Mutation_p.I186T	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	322	Helical; (Potential).				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				0						TTGGCTGTGATTATCACCTCT	0.378													C	40464919	T	C	40464919	3	2	189	1	0	0	0	0	1	0	0	0	1167	1493	52	3	999	3	ATP6AP2	23	40464919	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	14316	40464919	114805641	4940	102797											
USP9X	8239	broad.mit.edu	37	chrX	40994031	40994031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccgtgatgggctaacaAtatcattcactaaaattctt	5	8	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:40994031A>C	uc004dfb.2	+	5	1009	c.376A>C	c.(376-378)ATA>CTA	p.I126L	USP9X_uc004dfc.2_Missense_Mutation_p.I126L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	126					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			lung(3)|breast(2)|ovary(1)	6						TGGGCTAACAATATCATTCAC	0.353													C	40994031	A	C	40994031	3	2	189	1	0	0	0	0	1	0	0	0	17087	101	4	5	390	5	USP9X	23	40994031	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	529112	40994031	114276529	4941	102798											
NYX	60506	broad.mit.edu	37	chrX	41333485	41333485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctgcgcacgctcaAcctgggtggcaacgcgctgg	16	15	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:41333485A>G	uc004dfh.2	+	2	1209	c.779A>G	c.(778-780)AAC>AGC	p.N260S	NYX_uc011mku.1_Missense_Mutation_p.N255S	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	260	LRR 9.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						CGCACGCTCAACCTGGGTGGC	0.706													G	41333485	A	G	41333485	3	3	189	1	0	0	0	0	1	0	0	0	10797	43	2	3	785	3	NYX	23	41333485	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	339454	41333485	113937075	4942	102799											
EFHC2	80258	broad.mit.edu	37	chrX	44109680	44109680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggacgtaagggctctacGtgttctacaacctgcaaatg	11	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:44109680G>A	uc004dgb.3	-	6	708	c.618C>T	c.(616-618)CAC>CAT	p.H206H		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	206							calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6						AGGGCTCTACGTGTTCTACAA	0.408													A	44109680	G	A	44109680	2	1	189	1	0	0	0	0	0	0	0	1	4947	1136	40	1		1	EFHC2	23	44109680	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2776195	44109680	111160880	4943	102800											
KDM6A	7403	broad.mit.edu	37	chrX	44922891	44922891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtagcacatcaagaacGctgggaagtacagacactat	9	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:44922891G>A	uc004dge.3	+	16	2127	c.1752G>A	c.(1750-1752)ACG>ACA	p.T584T	KDM6A_uc010nhk.2_Silent_p.T550T|KDM6A_uc011mkz.1_Silent_p.T636T|KDM6A_uc011mla.1_Silent_p.T539T|KDM6A_uc011mlb.1_Silent_p.T591T|KDM6A_uc011mlc.1_Silent_p.T288T|KDM6A_uc011mld.1_Silent_p.T223T	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	584					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						CATCAAGAACGCTGGGAAGTA	0.512			D|N|F|S		renal|oesophageal SCC|MM								A	44922891	G	A	44922891	2	1	189	1	0	0	0	0	0	0	0	1	8137	1074	38	1		1	KDM6A	23	44922891	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	813211	44922891	110347669	4944	102801											
KDM6A	7403	broad.mit.edu	37	chrX	44950035	44950035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgtgaagtcaatagtAcccatggttcatctttcctg	8	9	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:44950035A>G	uc004dge.3	+	26	4179	c.3804A>G	c.(3802-3804)GTA>GTG	p.V1268V	KDM6A_uc011mkz.1_Silent_p.V1320V|KDM6A_uc011mla.1_Silent_p.V1223V|KDM6A_uc011mlb.1_Silent_p.V1275V|KDM6A_uc011mlc.1_Silent_p.V972V|KDM6A_uc011mld.1_Silent_p.V907V	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1268					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AGTCAATAGTACCCATGGTTC	0.373			D|N|F|S		renal|oesophageal SCC|MM								G	44950035	A	G	44950035	2	3	189	1	0	0	0	0	0	0	0	1	8137	378	14	3		3	KDM6A	23	44950035	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	27144	44950035	110320525	4945	102802											
RBM10	8241	broad.mit.edu	37	chrX	47030548	47030548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgggaccaggactatcGgaccgagcaaggggaggagg	17	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:47030548G>A	uc004dhf.2	+	4	702	c.323G>A	c.(322-324)CGG>CAG	p.R108Q	RBM10_uc004dhe.1_Missense_Mutation_p.R98Q|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Missense_Mutation_p.R108Q|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Missense_Mutation_p.R173Q	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	108					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						CAGGACTATCGGACCGAGCAA	0.532													A	47030548	G	A	47030548	3	1	189	1	0	0	0	0	1	0	0	0	13111	1116	39	1	333	1	RBM10	23	47030548	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2080513	47030548	108240012	4946	102803											
CDK16	5127	broad.mit.edu	37	chrX	47084389	47084389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctcacattccagggTacctatgccaccgtctacaa	5	16	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:47084389T>C	uc004dho.2	+	6	918	c.522T>C	c.(520-522)GGT>GGC	p.G174G	CDK16_uc011mli.1_Silent_p.G180G|CDK16_uc011mlj.1_Silent_p.G174G|CDK16_uc011mlk.1_Silent_p.G174G|CDK16_uc011mll.1_Silent_p.G248G	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	174	ATP (By similarity).|Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						CATTCCAGGGTACCTATGCCA	0.542													C	47084389	T	C	47084389	2	2	189	1	0	0	0	0	0	0	0	1	3132	1625	57	3		3	CDK16	23	47084389	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	53841	47084389	108186171	4947	102804											
CDK16	5127	broad.mit.edu	37	chrX	47087990	47087990	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatttgcactaaaggAgattcagctacaaaaggagg	9	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:47087990A>T	uc004dho.2	+	15	1796	c.1400A>T	c.(1399-1401)GAG>GTG	p.E467V	CDK16_uc011mli.1_Missense_Mutation_p.E473V|CDK16_uc011mlk.1_Missense_Mutation_p.E474V|CDK16_uc011mll.1_Missense_Mutation_p.E541V	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	467							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GCACTAAAGGAGATTCAGCTA	0.493													T	47087990	A	T	47087990	3	4	189	1	0	0	0	0	1	0	0	0	3132	304	11	5	1696	5	CDK16	23	47087990	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3601	47087990	108182570	4948	102805											
USP11	8237	broad.mit.edu	37	chrX	47100775	47100775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatgaagggtgagatcGcagaggcctatgcagacctg	16	8	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:47100775G>A	uc004dhp.2	+	8	1075	c.1075G>A	c.(1075-1077)GCA>ACA	p.A359T	USP11_uc004dhq.2_Missense_Mutation_p.A86T	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	359					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GGGTGAGATCGCAGAGGCCTA	0.592													A	47100775	G	A	47100775	3	1	189	1	0	0	0	0	1	0	0	0	17039	1087	38	1	1105	1	USP11	23	47100775	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	12785	47100775	108169785	4949	102806											
USP11	8237	broad.mit.edu	37	chrX	47107040	47107040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcaacaaggacagcgGccagtggcactactttgatg	12	11	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:47107040G>A	uc004dhp.2	+	20	2696	c.2696G>A	c.(2695-2697)GGC>GAC	p.G899D	USP11_uc004dhq.2_Missense_Mutation_p.G625D	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	899					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						AAGGACAGCGGCCAGTGGCAC	0.507													A	47107040	G	A	47107040	3	1	189	1	0	0	0	0	1	0	0	0	17039	1203	42	2	2774	2	USP11	23	47107040	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	6265	47107040	108163520	4950	102807											
ARAF	369	broad.mit.edu	37	chrX	47428172	47428172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatgacccggccgggaTttgccatcatcacacagtgg	11	13	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:47428172T>C	uc011mlq.1	+	11	1265	c.1132T>C	c.(1132-1134)TTT>CTT	p.F378L	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Missense_Mutation_p.F244L|ARAF_uc011mlp.1_Missense_Mutation_p.F378L|ARAF_uc004dic.1_Missense_Mutation_p.F159L	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	378	Protein kinase.			F -> V (in Ref. 6; AAB08754).	intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	CCGGCCGGGATTTGCCATCAT	0.582											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	47428172	T	C	47428172	3	2	189	1	0	0	0	0	1	0	0	0	837	1493	52	3	1170	3	ARAF	23	47428172	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	321132	47428172	107842388	4951	102808											
ZNF182	7569	broad.mit.edu	37	chrX	47836190	47836190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtttttccacacacatcAcattcatagggtttctctcc	5	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:47836190A>G	uc004dir.2	-	7	1642	c.1296T>C	c.(1294-1296)TGT>TGC	p.C432C	ZNF182_uc004dis.2_Silent_p.C413C|ZNF182_uc004dit.2_Silent_p.C432C|ZNF182_uc011mlu.1_Silent_p.C412C	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	432	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						CACACACATCACATTCATAGG	0.393													G	47836190	A	G	47836190	2	3	189	1	0	0	0	0	0	0	0	1	17747	157	6	3		3	ZNF182	23	47836190	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	408018	47836190	107434370	4952	102809											
PORCN	64840	broad.mit.edu	37	chrX	48370833	48370833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctacttcgtgggcaccAtcgtcttcgggccctggata	10	14	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:48370833A>G	uc010nie.1	+	5	651	c.493A>G	c.(493-495)ATC>GTC	p.I165V	PORCN_uc004djr.1_Missense_Mutation_p.I165V|PORCN_uc004djs.1_Missense_Mutation_p.I165V|PORCN_uc004djt.1_Missense_Mutation_p.I94V|PORCN_uc011mlx.1_Missense_Mutation_p.I94V|PORCN_uc004dju.1_Missense_Mutation_p.I34V|PORCN_uc004djv.1_Missense_Mutation_p.I165V|PORCN_uc004djw.1_Missense_Mutation_p.I165V	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	165	Helical; (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						CGTGGGCACCATCGTCTTCGG	0.627													G	48370833	A	G	48370833	3	3	189	1	0	0	0	0	1	0	0	0	12258	217	8	3	507	3	PORCN	23	48370833	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	534643	48370833	106899727	4953	102810											
WAS	7454	broad.mit.edu	37	chrX	48545297	48545299	+	In_Frame_Del	DEL	GAA	GAA	-													gctgataagaaacgctcaggGaagaagaagatcagcaaagc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:48545296_48545298GGAA>G	uc004dkm.4	+	6	743_745	c.686_688GGAA>G	c.(685-690)gggaag>gGag	p.K232del		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	232					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AAACGCTCAGGGAAGAAGAAGAT	0.571			"Mis, N, F, S"			lymphoma							-	48545299	GAA	-	48545297	7	5	189	1	0	1	0	1	0	0	0	0	17248	1161	41	0	713	0	WAS	23	48545297	In_Frame_Del	DEL	GAA	TCGA-CG-5721-01A-11D-1600-08	174464	48545297	106725263	4954	102811											
KCND1	3750	broad.mit.edu	37	chrX	48826140	48826140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggctgcggtgctcgtgTgtggattctcgaaggcccgc	17	11	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:48826140T>C	uc004dlx.1	-	1	2112	c.539A>G	c.(538-540)CAC>CGC	p.H180R	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	180	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						GGTGCTCGTGTGTGGATTCTC	0.657													C	48826140	T	C	48826140	3	2	189	1	0	0	0	0	1	0	0	0	8018	1696	59	3	1428	3	KCND1	23	48826140	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	280843	48826140	106444420	4955	102812											
CACNA1F	778	broad.mit.edu	37	chrX	49082529	49082529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggctcggcggaggcggCggctgggggaaggggagccc	24	9	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:49082529C>T	uc004dnb.2	-	13	1588	c.1526G>A	c.(1525-1527)CGC>CAC	p.R509H	CACNA1F_uc010nip.2_Missense_Mutation_p.R498H	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	509	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GCGGAGGCGGCGGCTGGGGGA	0.662													T	49082529	C	T	49082529	3	4	189	1	0	0	0	0	1	0	0	0	2543	768	27	1	4551	1	CACNA1F	23	49082529	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	256389	49082529	106188031	4956	102813											
PPP1R3F	89801	broad.mit.edu	37	chrX	49143293	49143293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcccttgggggccgaagTctgtctctctagtgtagcca	12	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:49143293T>C	uc004dnh.1	+	4	2157	c.2141T>C	c.(2140-2142)GTC>GCC	p.V714A	PPP1R3F_uc011mnd.1_Missense_Mutation_p.V385A|PPP1R3F_uc004dni.2_Missense_Mutation_p.V368A|PPP1R3F_uc004dnj.1_Missense_Mutation_p.V368A	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	714	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GGGGCCGAAGTCTGTCTCTCT	0.592													C	49143293	T	C	49143293	3	2	189	1	0	0	0	0	1	0	0	0	12375	1667	58	3	2155	3	PPP1R3F	23	49143293	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	60764	49143293	106127267	4957	102814											
PPP1R3F	89801	broad.mit.edu	37	chrX	49143411	49143411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgcagaatgtgtgtgTgcactgcctcctcagctccg	11	14	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:49143411T>C	uc004dnh.1	+	4	2275	c.2259T>C	c.(2257-2259)TGT>TGC	p.C753C	PPP1R3F_uc011mnd.1_Silent_p.C424C|PPP1R3F_uc004dni.2_Silent_p.C407C|PPP1R3F_uc004dnj.1_Silent_p.C407C	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	753	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					AATGTGTGTGTGCACTGCCTC	0.627													C	49143411	T	C	49143411	2	2	189	1	0	0	0	0	0	0	0	1	12375	1702	59	3		3	PPP1R3F	23	49143411	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	118	49143411	106127149	4958	102815											
AKAP4	8852	broad.mit.edu	37	chrX	49957564	49957564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctctgtgagattctagTtgtttcactgaaagtgcttt	12	6	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:49957564T>C	uc004dow.1	-	5	1924	c.1800A>G	c.(1798-1800)CAA>CAG	p.Q600Q	AKAP4_uc004dov.1_Silent_p.Q217Q|AKAP4_uc010njp.1_Silent_p.Q422Q|AKAP4_uc004dou.1_Silent_p.Q591Q	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	600					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					GAGATTCTAGTTGTTTCACTG	0.463													C	49957564	T	C	49957564	2	2	189	1	0	0	0	0	0	0	0	1	453	1722	60	3		3	AKAP4	23	49957564	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	814153	49957564	105312996	4959	102816											
AKAP4	8852	broad.mit.edu	37	chrX	49958802	49958802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgaaggactttgatTattgttggtgtttttagctg	13	3	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:49958802T>C	uc004dow.1	-	5	686	c.562A>G	c.(562-564)AAT>GAT	p.N188D	AKAP4_uc004dov.1_Missense_Mutation_p.N179D|AKAP4_uc010njp.1_Missense_Mutation_p.N10D|AKAP4_uc004dou.1_Missense_Mutation_p.N179D	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	188					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					GGACTTTGATTATTGTTGGTG	0.428													C	49958802	T	C	49958802	3	2	189	1	0	0	0	0	1	0	0	0	453	1754	61	3	2010	3	AKAP4	23	49958802	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1238	49958802	105311758	4960	102817											
DGKK	139189	broad.mit.edu	37	chrX	50146513	50146513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgcaggcagaaggagGtcatcagtgatagacaatgt	12	7	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:50146513G>A	uc010njr.1	-	6	1221	c.1161C>T	c.(1159-1161)GAC>GAT	p.D387D		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	387					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			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GCAGAAGGAGGTCATCAGTGA	0.483													A	50146513	G	A	50146513	2	1	189	1	0	0	0	0	0	0	0	1	4472	1252	44	4		4	DGKK	23	50146513	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	187711	50146513	105124047	4961	102818											
TSPYL2	64061	broad.mit.edu	37	chrX	53114010	53114010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactaacccctacttcacaaAcatggtgattgtcaaggagt	8	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:53114010A>G	uc004drw.2	+	3	1091	c.959A>G	c.(958-960)AAC>AGC	p.N320S	TSPYL2_uc004drv.2_Missense_Mutation_p.N364S|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	320					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						TACTTCACAAACATGGTGATT	0.498													G	53114010	A	G	53114010	3	3	189	1	0	0	0	0	1	0	0	0	16657	43	2	3	969	3	TSPYL2	23	53114010	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2967497	53114010	102156550	4962	102819											
IQSEC2	23096	broad.mit.edu	37	chrX	53285092	53285092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactggctggctggaggcGtgcccgctgagcccagggaa	17	12	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:53285092G>A	uc004dsd.2	-	3	1090	c.889C>T	c.(889-891)CGC>TGC	p.R297C	IQSEC2_uc004dsc.2_Missense_Mutation_p.R92C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	287					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						GGCTGGAGGCGTGCCCGCTGA	0.672													A	53285092	G	A	53285092	3	1	189	1	0	0	0	0	1	0	0	0	7818	1145	40	1	3629	1	IQSEC2	23	53285092	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	171082	53285092	101985468	4963	102820											
HUWE1	10075	broad.mit.edu	37	chrX	53563521	53563521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatcaccaggtgaggtaCggaacaaggcatacataggg	13	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:53563521C>T	uc004dsp.2	-	79	12647	c.12245G>A	c.(12244-12246)CGT>CAT	p.R4082H	HUWE1_uc004dsn.2_Missense_Mutation_p.R2890H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4082	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.R3972H(1)		ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGGTGAGGTACGGAACAAGGC	0.512													T	53563521	C	T	53563521	3	4	189	1	0	0	0	0	1	0	0	0	7461	536	19	1	903	1	HUWE1	23	53563521	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	278429	53563521	101707039	4964	102821											
PHF8	23133	broad.mit.edu	37	chrX	54022124	54022124	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgccccatgctccttActtccaccaggcggatctcc	6	19	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:54022124A>G	uc004dsu.2	-	12	1504	c.1431_splice	c.e12+1	p.E477_splice	PHF8_uc004dst.2_Splice_Site_p.E441_splice|PHF8_uc004dsv.2_Splice_Site_p.E307_splice|PHF8_uc004dsw.2_Splice_Site_p.E441_splice|PHF8_uc004dsx.2_Splice_Site_p.E205_splice|PHF8_uc004dsy.2_Splice_Site_p.E441_splice	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CATGCTCCTTACTTCCACCAG	0.557													G	54022124	A	G	54022124	5	3	189	1	0	0	0	0	0	0	1	0	11840	405	14	3	1963	3	PHF8	23	54022124	Splice_Site	SNP	A	TCGA-CG-5721-01A-11D-1600-08	458603	54022124	101248436	4965	102822											
FGD1	2245	broad.mit.edu	37	chrX	54475618	54475618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcgtttggtgatagaAttgaagggctcctggcagcg	15	8	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:54475618A>G	uc004dtg.2	-	15	2966	c.2232T>C	c.(2230-2232)AAT>AAC	p.N744N	FGD1_uc011moi.1_Silent_p.N502N	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	744	FYVE-type.				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			ovary(3)|skin(2)|central_nervous_system(1)	6						TGGTGATAGAATTGAAGGGCT	0.612													G	54475618	A	G	54475618	2	3	189	1	0	0	0	0	0	0	0	1	5832	98	4	3		3	FGD1	23	54475618	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	453494	54475618	100794942	4966	102823											
FGD1	2245	broad.mit.edu	37	chrX	54492003	54492003	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgctgcaatgtcaggTtgccacaggcttcctccttc	11	12	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:54492003T>A	uc004dtg.2	-	8	2251	c.1517A>T	c.(1516-1518)AAC>ATC	p.N506I	FGD1_uc011moi.1_Missense_Mutation_p.N264I	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	506	DH.				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			ovary(3)|skin(2)|central_nervous_system(1)	6						CAATGTCAGGTTGCCACAGGC	0.592													A	54492003	T	A	54492003	3	1	189	1	0	0	0	0	1	0	0	0	5832	1725	60	5	1412	5	FGD1	23	54492003	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	16385	54492003	100778557	4967	102824											
FGD1	2245	broad.mit.edu	37	chrX	54497788	54497788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcttcagtggtgaaggaCgctggctaggggtttcagtc	15	10	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:54497788C>T	uc004dtg.2	-	2	1174	c.440G>A	c.(439-441)CGT>CAT	p.R147H	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	147	Pro-rich.				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			ovary(3)|skin(2)|central_nervous_system(1)	6						TGGTGAAGGACGCTGGCTAGG	0.627													T	54497788	C	T	54497788	3	4	189	1	0	0	0	0	1	0	0	0	5832	536	19	1	2513	1	FGD1	23	54497788	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	5785	54497788	100772772	4968	102825											
TRO	7216	broad.mit.edu	37	chrX	54956700	54956700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagtgcctgctttagtggTgctaccagccctagtttttg	10	11	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:54956700T>C	uc004dtq.2	+	12	3650	c.3543T>C	c.(3541-3543)GGT>GGC	p.G1181G	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G712G|TRO_uc004dtw.2_Silent_p.G784G|TRO_uc004dtx.2_Silent_p.G564G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1181	62 X 10 AA approximate tandem repeats.|38; approximate.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						GCTTTAGTGGTGCTACCAGCC	0.522													C	54956700	T	C	54956700	2	2	189	1	0	0	0	0	0	0	0	1	16571	1683	59	3		3	TRO	23	54956700	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	458912	54956700	100313860	4969	102826											
PAGE2	203569	broad.mit.edu	37	chrX	55117854	55117854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtcagggagggtattAtgcccacttttgatctcact	10	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:55117854A>G	uc004duf.1	+	4	337	c.283A>G	c.(283-285)ATG>GTG	p.M95V		NM_207339	NP_997222	Q7Z2X7	GGEE2_HUMAN	P antigen family, member 2	95										ovary(2)	2						GGAGGGTATTATGCCCACTTT	0.403													G	55117854	A	G	55117854	3	3	189	1	0	0	0	0	1	0	0	0	11390	449	16	3	293	3	PAGE2	23	55117854	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	161154	55117854	100152706	4970	102827											
USP51	158880	broad.mit.edu	37	chrX	55513438	55513438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggaatacttattctcAttgggcacacaatctgttgg	8	8	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:55513438A>G	uc004dun.1	-	2	2014	c.1935T>C	c.(1933-1935)AAT>AAC	p.N645N	USP51_uc011moo.1_Silent_p.N349N	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	645					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						ACTTATTCTCATTGGGCACAC	0.453													G	55513438	A	G	55513438	2	3	189	1	0	0	0	0	0	0	0	1	17080	214	8	3		3	USP51	23	55513438	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	395584	55513438	99757122	4971	102828											
KLF8	11279	broad.mit.edu	37	chrX	56296710	56296710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatgcagcaaagtgtAcaccaaaagctctcacctga	9	11	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:56296710A>G	uc004dur.2	+	5	1800	c.854A>G	c.(853-855)TAC>TGC	p.Y285C	KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	285	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGCAAAGTGTACACCAAAAGC	0.438													G	56296710	A	G	56296710	3	3	189	1	0	0	0	0	1	0	0	0	8352	391	14	3	872	3	KLF8	23	56296710	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	783272	56296710	98973850	4972	102829											
FAM123B	139285	broad.mit.edu	37	chrX	63411777	63411777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcatcactattgggggCggattcttgctggtcactct	10	11	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:63411777C>T	uc004dvo.2	-	2	1663	c.1390G>A	c.(1390-1392)GCC>ACC	p.A464T		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	464					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTATTGGGGGCGGATTCTTGC	0.557													T	63411777	C	T	63411777	3	4	189	1	0	0	0	0	1	0	0	0	5423	768	27	1	2021	1	FAM123B	23	63411777	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	7115067	63411777	91858783	4973	102830											
FAM123B	139285	broad.mit.edu	37	chrX	63413026	63413026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagcctacctgggccGgatgaggatggctctgaggt	14	10	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:63413026G>A	uc004dvo.2	-	2	414	c.141C>T	c.(139-141)TCC>TCT	p.S47S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	47					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TACCTGGGCCGGATGAGGATG	0.532													A	63413026	G	A	63413026	2	1	189	1	0	0	0	0	0	0	0	1	5423	1103	39	1		1	FAM123B	23	63413026	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1249	63413026	91857534	4974	102831											
ZC4H2	55906	broad.mit.edu	37	chrX	64140121	64140121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcattctcagattgtttgaTagtgttttccatctggaaca	8	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:64140121T>C	uc004dvu.2	-	3	326	c.238A>G	c.(238-240)ATC>GTC	p.I80V	ZC4H2_uc004dvv.2_Missense_Mutation_p.I57V|ZC4H2_uc011mov.1_Missense_Mutation_p.I57V|ZC4H2_uc011mow.1_Missense_Mutation_p.I80V|ZC4H2_uc004dvw.1_Missense_Mutation_p.I80V	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	80	Potential.						metal ion binding|protein binding			ovary(1)	1						GATTGTTTGATAGTGTTTTCC	0.378													C	64140121	T	C	64140121	3	2	189	1	0	0	0	0	1	0	0	0	17575	1406	49	3	467	3	ZC4H2	23	64140121	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	727095	64140121	91130439	4975	102832											
AR	367	broad.mit.edu	37	chrX	66942766	66942766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcatgcaaaagaaaaaaTcccacatcctgctcaagacg	6	11	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:66942766T>G	uc004dwu.1	+	7	3662	c.2547T>G	c.(2545-2547)AAT>AAG	p.N849K	AR_uc004dwv.1_Missense_Mutation_p.N317K	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	848	Ligand-binding.|Interaction with MYST2.				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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	AAAGAAAAAATCCCACATCCT	0.458									Androgen_Insensitivity_Syndrome				G	66942766	T	G	66942766	3	3	189	1	0	0	0	0	1	0	0	0	836	1432	50	5	2597	5	AR	23	66942766	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2802645	66942766	88327794	4976	102833											
OPHN1	4983	broad.mit.edu	37	chrX	67412815	67412815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgctgcccacagtgcggtAcaacccttctgtcttgatcc	8	14	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:67412815A>G	uc004dww.3	-	15	1516	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H	OPHN1_uc011mpg.1_Missense_Mutation_p.Y408H	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	408	Rho-GAP.				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			ovary(2)	2						ACAGTGCGGTACAACCCTTCT	0.398													G	67412815	A	G	67412815	3	3	189	1	0	0	0	0	1	0	0	0	10875	391	14	3	1226	3	OPHN1	23	67412815	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	470049	67412815	87857745	4977	102834											
KIF4A	24137	broad.mit.edu	37	chrX	69606471	69606471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttttttcttgtcaggacCgtaagaggcaatatgagctg	11	7	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:69606471C>T	uc004dyg.2	+	19	2165	c.2038C>T	c.(2038-2040)CGT>TGT	p.R680C	KIF4A_uc010nkw.2_Missense_Mutation_p.R680C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	680	Potential.|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			ovary(4)	4						TTGTCAGGACCGTAAGAGGCA	0.373													T	69606471	C	T	69606471	3	4	189	1	0	0	0	0	1	0	0	0	8303	652	23	1	2108	1	KIF4A	23	69606471	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2193656	69606471	85664089	4978	102835											
DLG3	1741	broad.mit.edu	37	chrX	69670589	69670589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggccaagccaggcaGcctccacctcaacgacatgt	11	14	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:69670589G>A	uc004dyi.1	+	6	1269	c.941G>A	c.(940-942)AGC>AAC	p.S314N	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	314					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					AAGCCAGGCAGCCTCCACCTC	0.547													A	69670589	G	A	69670589	3	1	189	1	0	0	0	0	1	0	0	0	4556	971	34	2	963	2	DLG3	23	69670589	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	64118	69670589	85599971	4979	102836											
ZMYM3	9203	broad.mit.edu	37	chrX	70471056	70471056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatctacaacctcaggTtttggaggttctgctctcct	10	10	4	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:70471056T>C	uc004dzh.1	-	4	837	c.750A>G	c.(748-750)AAA>AAG	p.K250K	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.K250K|ZMYM3_uc004dzj.1_Silent_p.K250K|ZMYM3_uc011mpu.1_5'UTR|ZMYM3_uc004dzk.3_Silent_p.K250K|ZMYM3_uc004dzl.3_Silent_p.K250K|ZMYM3_uc004dzm.3_Silent_p.K250K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	250					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					CAACCTCAGGTTTTGGAGGTT	0.527													C	70471056	T	C	70471056	2	2	189	1	0	0	0	0	0	0	0	1	17698	1722	60	3		3	ZMYM3	23	70471056	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	800467	70471056	84799504	4980	102837											
NHSL2	340527	broad.mit.edu	37	chrX	71359174	71359174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaggtgggtcagcactAcccaaggaccagaggcccaa	12	13	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:71359174A>G	uc011mqa.1	+	6	1776	c.1776A>G	c.(1774-1776)CTA>CTG	p.L592L	NHSL2_uc004eak.1_Silent_p.L226L|NHSL2_uc010nli.2_Silent_p.L361L	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	592											0	Renal(35;0.156)					GGTCAGCACTACCCAAGGACC	0.557													G	71359174	A	G	71359174	2	3	189	1	0	0	0	0	0	0	0	1	10412	378	14	3		3	NHSL2	23	71359174	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	888118	71359174	83911386	4981	102838											
ERCC6L	54821	broad.mit.edu	37	chrX	71425175	71425175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaagacagtgtttctcCggaaggatcctcttctgtat	9	9	4	2	rs78660817		TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:71425175C>T	uc004eaq.1	-	2	3539	c.3442G>A	c.(3442-3444)GGA>AGA	p.G1148R	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.G1025R	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	1148					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					AGTGTTTCTCCGGAAGGATCC	0.502													T	71425175	C	T	71425175	3	4	189	1	0	0	0	0	1	0	0	0	5218	661	23	1	314	1	ERCC6L	23	71425175	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	66001	71425175	83845385	4982	102839											
ERCC6L	54821	broad.mit.edu	37	chrX	71428266	71428266	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcatcagccaatataccAccttttcttccatccctata	1	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:71428266A>G	uc004eaq.1	-	2	448	c.351T>C	c.(349-351)GGT>GGC	p.G117G	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_5'UTR	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	117	Helicase ATP-binding.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					CCAATATACCACCTTTTCTTC	0.433													G	71428266	A	G	71428266	2	3	189	1	0	0	0	0	0	0	0	1	5218	146	6	3		3	ERCC6L	23	71428266	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	3091	71428266	83842294	4983	102840											
PHKA1	5255	broad.mit.edu	37	chrX	71846871	71846871	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcggagtgctgccaggatActtgaattcaagcttgttcc	10	9	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:71846871A>G	uc004eax.3	-	17	2044	c.1743T>C	c.(1741-1743)AGT>AGC	p.S581S	PHKA1_uc004eay.3_Silent_p.S581S|PHKA1_uc011mqi.1_Silent_p.S581S	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	581					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CTGCCAGGATACTTGAATTCA	0.363													G	71846871	A	G	71846871	2	3	189	1	0	0	0	0	0	0	0	1	11843	388	14	3		3	PHKA1	23	71846871	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	418605	71846871	83423689	4984	102841											
KIAA2022	340533	broad.mit.edu	37	chrX	73961910	73961910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagtatgagatactagTgttatttgacaagtcagaag	11	4	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:73961910T>C	uc004eby.2	-	3	3099	c.2482A>G	c.(2482-2484)ACT>GCT	p.T828A		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	828					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GAGATACTAGTGTTATTTGAC	0.433													C	73961910	T	C	73961910	3	2	189	1	0	0	0	0	1	0	0	0	8269	1696	59	3	2076	3	KIAA2022	23	73961910	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2115039	73961910	81308650	4985	102842											
ZDHHC15	158866	broad.mit.edu	37	chrX	74670727	74670727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctttcttcattttcatAgcgctccttgtctgtgtagg	9	9	5	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:74670727A>G	uc004ecg.2	-	4	767	c.289T>C	c.(289-291)TAT>CAT	p.Y97H	ZDHHC15_uc004ech.2_Missense_Mutation_p.Y88H|ZDHHC15_uc011mqo.1_RNA|ZDHHC15_uc004eci.2_Missense_Mutation_p.Y88H	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	97						integral to membrane	zinc ion binding			ovary(2)	2						TCATTTTCATAGCGCTCCTTG	0.398													G	74670727	A	G	74670727	3	3	189	1	0	0	0	0	1	0	0	0	17602	420	15	3	836	3	ZDHHC15	23	74670727	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	708817	74670727	80599833	4986	102843											
PGAM4	441531	broad.mit.edu	37	chrX	77224557	77224557	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccctccacatgcttggcAatgccctggaggctgttgcc	11	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:77224557A>G	uc004ecy.1	-	1	579	c.579T>C	c.(577-579)ATT>ATC	p.I193I	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	193					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CATGCTTGGCAATGCCCTGGA	0.512													G	77224557	A	G	77224557	2	3	189	1	0	0	0	0	0	0	0	1	11775	126	5	3		3	PGAM4	23	77224557	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2553830	77224557	78046003	4987	102844											
P2RY10	27334	broad.mit.edu	37	chrX	78216198	78216198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccttgtgggttctgtgcCgcttcatcagcaagaaaaat	10	10	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:78216198C>T	uc004ede.2	+	4	550	c.181C>T	c.(181-183)CGC>TGC	p.R61C	P2RY10_uc004edf.2_Missense_Mutation_p.R61C	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	61	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						GGTTCTGTGCCGCTTCATCAG	0.418													T	78216198	C	T	78216198	3	4	189	1	0	0	0	0	1	0	0	0	11347	652	23	1	183	1	P2RY10	23	78216198	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	991641	78216198	77054362	4988	102845											
POU3F4	5456	broad.mit.edu	37	chrX	82764004	82764004	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggcacactgtatggTaacgtgttctcgcagaccac	12	12	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:82764004T>C	uc004eeg.2	+	1	736	c.672T>C	c.(670-672)GGT>GGC	p.G224G		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	224	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CACTGTATGGTAACGTGTTCT	0.522													C	82764004	T	C	82764004	2	2	189	1	0	0	0	0	0	0	0	1	12277	1625	57	3		3	POU3F4	23	82764004	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4547806	82764004	72506556	4989	102846											
RPS6KA6	27330	broad.mit.edu	37	chrX	83403063	83403063	+	Frame_Shift_Del	DEL	T	T	-													tttctaccttttaaagaggcTttttttaacaccttcattgc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:83403063delT	uc004eej.1	-	4	404	c.327delA	c.(325-327)AAAfs	p.K109fs	RPS6KA6_uc011mqt.1_Frame_Shift_Del_p.K109fs|RPS6KA6_uc011mqu.1_Frame_Shift_Del_p.K6fs|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	109	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			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTAAAGAGGCTTTTTTTAACA	0.303													-	83403063	T	-	83403063	7	5	189	1	0	1	0	1	0	0	0	0	13655	1606	56	0	1986	0	RPS6KA6	23	83403063	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	639059	83403063	71867497	4990	102847											
HDX	139324	broad.mit.edu	37	chrX	83723662	83723662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtctgacatatctctaaTattcaccatttgtgaatttg	5	7	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:83723662T>C	uc004eek.1	-	3	1178	c.1069A>G	c.(1069-1071)ATT>GTT	p.I357V	HDX_uc011mqv.1_Missense_Mutation_p.I357V|HDX_uc004eel.1_Missense_Mutation_p.I299V	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	357						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						ATATCTCTAATATTCACCATT	0.393													C	83723662	T	C	83723662	3	2	189	1	0	0	0	0	1	0	0	0	7026	1406	49	3	1035	3	HDX	23	83723662	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	320599	83723662	71546898	4991	102848											
SATL1	340562	broad.mit.edu	37	chrX	84362428	84362428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatgcccatttggctcAcacttggttggctcctgcct	9	15	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:84362428A>G	uc011mqx.1	-	1	1547	c.1547T>C	c.(1546-1548)GTG>GCG	p.V516A	SATL1_uc004een.2_Missense_Mutation_p.V516A	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	329	Gln-rich.						N-acetyltransferase activity			breast(2)	2						CATTTGGCTCACACTTGGTTG	0.517													G	84362428	A	G	84362428	3	3	189	1	0	0	0	0	1	0	0	0	13855	159	6	3	371	3	SATL1	23	84362428	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	638766	84362428	70908132	4992	102849											
CHM	1121	broad.mit.edu	37	chrX	85119781	85119781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaggatttggtggaggggGacagaaatcttcattggggc	16	5	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:85119781G>A	uc004eet.2	-	15	1846	c.1816C>T	c.(1816-1818)CCC>TCC	p.P606S	CHM_uc011mqz.1_Missense_Mutation_p.P458S	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	606					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				GGTGGAGGGGGACAGAAATCT	0.438													A	85119781	G	A	85119781	3	1	189	1	0	0	0	0	1	0	0	0	3350	1174	41	4	149	4	CHM	23	85119781	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	757353	85119781	70150779	4993	102850											
DACH2	117154	broad.mit.edu	37	chrX	85403701	85403701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcttattccgggccgAacccctgtactcgactccca	12	15	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:85403701A>G	uc004eew.2	+	1	247	c.77A>G	c.(76-78)GAA>GGA	p.E26G	DACH2_uc004eex.2_Missense_Mutation_p.E26G|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TTCCGGGCCGAACCCCTGTAC	0.587													G	85403701	A	G	85403701	3	3	189	1	0	0	0	0	1	0	0	0	4221	246	9	3	79	3	DACH2	23	85403701	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	283920	85403701	69866859	4994	102851											
SRPX2	27286	broad.mit.edu	37	chrX	99920261	99920261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagatccccccaagatccGctgtccccactcacgtgaga	7	17	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:99920261G>A	uc004egb.2	+	6	1034	c.554G>A	c.(553-555)CGC>CAC	p.R185H		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	185	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						CCCAAGATCCGCTGTCCCCAC	0.527													A	99920261	G	A	99920261	3	1	189	1	0	0	0	0	1	0	0	0	15164	1087	38	1	572	1	SRPX2	23	99920261	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	14516560	99920261	55350299	4995	102852											
TAF7L	54457	broad.mit.edu	37	chrX	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-													gtctgctgttttataaaaggTttttttatcaagcgttctca							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:100538467delT	uc004ehb.2	-	4	520	c.508delA	c.(508-510)ACCfs	p.T170fs	TAF7L_uc004eha.2_Frame_Shift_Del_p.T84fs|TAF7L_uc004ehc.1_Frame_Shift_Del_p.T84fs	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						TTATAAAAGGTTTTTTTATCA	0.393													-	100538467	T	-	100538467	7	5	189	1	0	1	0	1	0	0	0	0	15530	1725	60	0	920	0	TAF7L	23	100538467	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	618206	100538467	54732093	4996	102853											
GLA	2717	broad.mit.edu	37	chrX	100653514	100653514	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagagggccatctgagtTacttgctgattccagctgag	12	11	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:100653514T>C	uc004ehl.1	-	6	953	c.843A>G	c.(841-843)GTA>GTG	p.V281V		NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	281					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				0					Agalsidase beta(DB00103)	CCATCTGAGTTACTTGCTGAT	0.438													C	100653514	T	C	100653514	2	2	189	1	0	0	0	0	0	0	0	1	6426	1741	61	3		3	GLA	23	100653514	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	115047	100653514	54617046	4997	102854											
TCEAL2	140597	broad.mit.edu	37	chrX	101382092	101382092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagggaaagccagagagagGgggaagggcagagggtgaag	22	3	0	5			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:101382092G>T	uc004eip.2	+	3	509	c.290G>T	c.(289-291)GGG>GTG	p.G97V		NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						ccagagagagggggaagggca	0.119													T	101382092	G	T	101382092	3	4	189	1	0	0	0	0	1	0	0	0	15668	1232	43	5	292	5	TCEAL2	23	101382092	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	728578	101382092	53888468	4998	102855											
NXF3	56000	broad.mit.edu	37	chrX	102339744	102339744	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattgacaggttcagacctActgctaaatctcctttggta	9	9	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:102339744A>G	uc004eju.2	-	2	167	c.96T>C	c.(94-96)AGT>AGC	p.S32S	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Silent_p.S32S|NXF3_uc011mrx.1_Intron	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	32						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GTTCAGACCTACTGCTAAATC	0.428													G	102339744	A	G	102339744	2	3	189	1	0	0	0	0	0	0	0	1	10785	388	14	3		3	NXF3	23	102339744	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	957652	102339744	52930816	4999	102856											
RAB40A	142684	broad.mit.edu	37	chrX	102754895	102754895	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagtttttgggtgggcTctggggtgggcagacgatct	19	6	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:102754895T>G	uc004ekk.2	-	3	1132	c.790A>C	c.(790-792)AGC>CGC	p.S264R		NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	264					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0						TTGGGTGGGCTCTGGGGTGGG	0.527													G	102754895	T	G	102754895	3	3	189	1	0	0	0	0	1	0	0	0	12939	1551	54	5	47	5	RAB40A	23	102754895	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	415151	102754895	52515665	5000	102857											
SERPINA7	6906	broad.mit.edu	37	chrX	105280958	105280958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcatttggttgggatgaaTggcaggctgttactttgcct	14	6	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:105280958T>C	uc004eme.1	-	1	108	c.92A>G	c.(91-93)CAT>CGT	p.H31R	SERPINA7_uc010npd.2_Missense_Mutation_p.H31R|SERPINA7_uc010npe.1_Missense_Mutation_p.H31R	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	31				CH -> DS (in Ref. 7; AA sequence).	regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGGGATGAATGGCAGGCTGT	0.463													C	105280958	T	C	105280958	3	2	189	1	0	0	0	0	1	0	0	0	14094	1464	51	3	1171	3	SERPINA7	23	105280958	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	2526063	105280958	49989602	5001	102858											
VSIG1	340547	broad.mit.edu	37	chrX	107310235	107310235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgaattacagggtccaacGatccaggtaatgcatctatc	8	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:107310235G>A	uc004eno.2	+	3	444	c.283G>A	c.(283-285)GAT>AAT	p.D95N	VSIG1_uc011msk.1_Missense_Mutation_p.D131N	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	95	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						AGGGTCCAACGATCCAGGTAA	0.433													A	107310235	G	A	107310235	3	1	189	1	0	0	0	0	1	0	0	0	17219	1058	37	1	405	1	VSIG1	23	107310235	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2029277	107310235	47960325	5002	102859											
ATG4A	115201	broad.mit.edu	37	chrX	107374535	107374535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttggggatgtatgctacGctgtggacagatgatgctgg	17	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:107374535G>A	uc004enr.2	+	4	362	c.239G>A	c.(238-240)CGC>CAC	p.R80H	ATG4A_uc004ent.2_Missense_Mutation_p.R80H|ATG4A_uc004ens.2_5'UTR|ATG4A_uc011msl.1_5'UTR|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_5'UTR	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	80					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						TGTATGCTACGCTGTGGACAG	0.458													A	107374535	G	A	107374535	3	1	189	1	0	0	0	0	1	0	0	0	1096	1087	38	1	253	1	ATG4A	23	107374535	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	64300	107374535	47896025	5003	102860											
ATG4A	115201	broad.mit.edu	37	chrX	107381067	107381067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcccttgagtgctgAcacagctggtgacaggcctc	11	13	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:107381067A>G	uc004enr.2	+	8	704	c.581A>G	c.(580-582)GAC>GGC	p.D194G	ATG4A_uc004ent.2_Missense_Mutation_p.D194G|ATG4A_uc004ens.2_Missense_Mutation_p.D110G|ATG4A_uc011msl.1_Missense_Mutation_p.D110G|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.D110G	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	194					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						TTGAGTGCTGACACAGCTGGT	0.473													G	107381067	A	G	107381067	3	3	189	1	0	0	0	0	1	0	0	0	1096	275	10	3	611	3	ATG4A	23	107381067	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	6532	107381067	47889493	5004	102861											
COL4A6	1288	broad.mit.edu	37	chrX	107408254	107408254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggacctgggggtccagCggggcctgggcggcctaggg	23	10	0	0	rs113329155	byFrequency	TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:107408254C>T	uc004enw.3	-	39	3929	c.3826G>A	c.(3826-3828)GCT>ACT	p.A1276T	COL4A6_uc004env.3_Missense_Mutation_p.A1275T|COL4A6_uc011msn.1_Missense_Mutation_p.A1251T|COL4A6_uc010npk.2_Missense_Mutation_p.A1251T|COL4A6_uc010npj.2_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1276	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						GGGGGTCCAGCGGGGCCTGGG	0.627									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107408254	C	T	107408254	3	4	189	1	0	0	0	0	1	0	0	0	3695	768	27	1	1277	1	COL4A6	23	107408254	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	27187	107408254	47862306	5005	102862											
NXT2	55916	broad.mit.edu	37	chrX	108785800	108785800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgtgaagtttgatggAaacaaacaacatttcttcaa	8	6	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:108785800A>G	uc004eof.1	+	4	456	c.312A>G	c.(310-312)GGA>GGG	p.G104G	NXT2_uc004eoe.1_Silent_p.G159G|NXT2_uc004eog.1_Silent_p.G76G	NM_018698	NP_061168	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	104	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				ovary(1)	1						AGTTTGATGGAAACAAACAAC	0.408													G	108785800	A	G	108785800	2	3	189	1	0	0	0	0	0	0	0	1	10795	233	9	3		3	NXT2	23	108785800	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1377546	108785800	46484760	5006	102863											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698039	111698039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgattctgcggcttcAaatgcagcatccaaccacgg	9	12	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:111698039A>G	uc004epo.1	+	3	524	c.83A>G	c.(82-84)CAA>CGA	p.Q28R		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	28							nucleic acid binding|zinc ion binding			ovary(1)	1						CTGCGGCTTCAAATGCAGCAT	0.502													G	111698039	A	G	111698039	3	3	189	1	0	0	0	0	1	0	0	0	17581	130	5	3	85	3	ZCCHC16	23	111698039	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2912239	111698039	43572521	5007	102864											
LUZP4	51213	broad.mit.edu	37	chrX	114540914	114540914	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcattctgagcgatccCgaaaccacttagagagatct	7	11	4	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:114540914C>T	uc004eqa.2	+	4	521	c.487C>T	c.(487-489)CGA>TGA	p.R163*	LUZP4_uc004eqb.2_Nonsense_Mutation_p.R81*	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	163						nucleus				ovary(2)	2						TGAGCGATCCCGAAACCACTT	0.468													T	114540914	C	T	114540914	4	4	189	1	0	0	0	0	0	1	0	0	9088	644	23	1	501	1	LUZP4	23	114540914	Nonsense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2842875	114540914	40729646	5008	102865											
WDR44	54521	broad.mit.edu	37	chrX	117527127	117527127	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcacgcccacctcctccaaCtaatttcccacctcctagac	3	20	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:117527127C>G	uc004eqn.2	+	4	1144	c.719C>G	c.(718-720)ACT>AGT	p.T240S	WDR44_uc004eqo.2_Missense_Mutation_p.T240S|WDR44_uc011mtr.1_Missense_Mutation_p.T215S|WDR44_uc010nqi.2_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	240	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						CCTCCTCCAACTAATTTCCCA	0.512													G	117527127	C	G	117527127	3	3	189	1	0	0	0	0	1	0	0	0	17293	565	20	5	733	5	WDR44	23	117527127	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	2986213	117527127	37743433	5009	102866											
DOCK11	139818	broad.mit.edu	37	chrX	117770340	117770340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttactggaataaagtatcAcctcaggagctcataaacat	6	9	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:117770340A>G	uc004eqp.2	+	36	3981	c.3918A>G	c.(3916-3918)TCA>TCG	p.S1306S	DOCK11_uc004eqq.2_Silent_p.S1085S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1306					blood coagulation	cytosol	GTP binding			ovary(3)	3						ATAAAGTATCACCTCAGGAGC	0.239													G	117770340	A	G	117770340	2	3	189	1	0	0	0	0	0	0	0	1	4686	146	6	3		3	DOCK11	23	117770340	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	243213	117770340	37500220	5010	102867											
IL13RA1	3597	broad.mit.edu	37	chrX	117925753	117925753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacgacatctatgagaAgcaaaccaaggaggaaaccg	11	8	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:117925753A>G	uc004eqs.2	+	11	1263	c.1220A>G	c.(1219-1221)AAG>AGG	p.K407R	IL13RA1_uc004eqt.1_Intron	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	407	Cytoplasmic (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						ATCTATGAGAAGCAAACCAAG	0.408													G	117925753	A	G	117925753	3	3	189	1	0	0	0	0	1	0	0	0	7629	72	3	3	1262	3	IL13RA1	23	117925753	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	155413	117925753	37344807	5011	102868											
PGRMC1	10857	broad.mit.edu	37	chrX	118374362	118374362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcactgaaggatgagtacgAtgacctttctgacctcactg	10	10	2	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:118374362A>G	uc004erb.2	+	2	535	c.419A>G	c.(418-420)GAT>GGT	p.D140G	PGRMC1_uc011mts.1_Intron	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	140	Cytochrome b5 heme-binding.|Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						GATGAGTACGATGACCTTTCT	0.483													G	118374362	A	G	118374362	3	3	189	1	0	0	0	0	1	0	0	0	11806	333	12	3	425	3	PGRMC1	23	118374362	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	448609	118374362	36896198	5012	102869											
UPF3B	65109	broad.mit.edu	37	chrX	118979166	118979166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctatactgtaccatcaTcgatagtcccgactttggta	8	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:118979166T>C	uc004erz.1	-	4	541	c.464A>G	c.(463-465)GAT>GGT	p.D155G	UPF3B_uc004esa.1_Missense_Mutation_p.D155G	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	155	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				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			ovary(2)|kidney(1)	3						TGTACCATCATCGATAGTCCC	0.328													C	118979166	T	C	118979166	3	2	189	1	0	0	0	0	1	0	0	0	17003	1435	50	3	1019	3	UPF3B	23	118979166	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	604804	118979166	36291394	5013	102870											
NDUFA1	4694	broad.mit.edu	37	chrX	119007297	119007297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcattttgggtatcacTggagtctgatggaaagagat	12	5	3	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:119007297T>C	uc004esc.3	+	2	274	c.133T>C	c.(133-135)TGG>CGG	p.W45R	RNF113A_uc004esb.2_5'Flank	NM_004541	NP_004532	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	45					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)	1					NADH(DB00157)	TGGGTATCACTGGAGTCTGAT	0.403													C	119007297	T	C	119007297	3	2	189	1	0	0	0	0	1	0	0	0	10259	1580	55	3	139	3	NDUFA1	23	119007297	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	28131	119007297	36263263	5014	102871											
RHOXF1	158800	broad.mit.edu	37	chrX	119249597	119249597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgccatcgcggttcatgCcgttctcgtggttcacaccg	11	15	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:119249597C>T	uc004esk.1	-	1	251	c.176G>A	c.(175-177)GGC>GAC	p.G59D	uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	59					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCGGTTCATGCCGTTCTCGTG	0.682													T	119249597	C	T	119249597	3	4	189	1	0	0	0	0	1	0	0	0	13347	739	26	2	390	2	RHOXF1	23	119249597	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	242300	119249597	36020963	5015	102872											
THOC2	57187	broad.mit.edu	37	chrX	122766892	122766892	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgaccaaaataaccaccCtgcacaagggaagacacaaa	6	12	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:122766892C>A	uc004etu.2	-	21	2169	c.2137_splice	c.e21-1	p.G713_splice	THOC2_uc011muh.1_Splice_Site_p.G638_splice	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						AATAACCACCCTGCACAAGGG	0.363													A	122766892	C	A	122766892	5	1	189	1	0	0	0	0	0	0	1	0	15862	695	24	5	2717	5	THOC2	23	122766892	Splice_Site	SNP	C	TCGA-CG-5721-01A-11D-1600-08	3517295	122766892	32503668	5016	102873											
SH2D1A	4068	broad.mit.edu	37	chrX	123504039	123504039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccagacagcacctggggTacataaaagatatttccgga	9	9	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:123504039T>C	uc004euf.3	+	3	560	c.215T>C	c.(214-216)GTA>GCA	p.V72A	SH2D1A_uc004euh.3_Missense_Mutation_p.V72A|SH2D1A_uc004eug.3_Intron|SH2D1A_uc010nqw.2_Intron|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	SH2 domain protein 1A isoform 1	72	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity				0						GCACCTGGGGTACATAAAAGA	0.363									X-linked_Lymphoproliferative_syndrome				C	123504039	T	C	123504039	3	2	189	1	0	0	0	0	1	0	0	0	14230	1638	57	3	225	3	SH2D1A	23	123504039	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	737147	123504039	31766521	5017	102874											
ODZ1	10178	broad.mit.edu	37	chrX	123517933	123517933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtaactcttatggggTtggtaaggtctgcataaaag	12	4	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:123517933T>C	uc004euj.2	-	29	6891	c.6827A>G	c.(6826-6828)AAC>AGC	p.N2276S	ODZ1_uc011muj.1_Missense_Mutation_p.N2282S|ODZ1_uc010nqy.2_Missense_Mutation_p.N2283S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2276	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCTTATGGGGTTGGTAAGGTC	0.473													C	123517933	T	C	123517933	3	2	189	1	0	0	0	0	1	0	0	0	10834	1725	60	3	1362	3	ODZ1	23	123517933	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	13894	123517933	31752627	5018	102875											
ODZ1	10178	broad.mit.edu	37	chrX	123657295	123657295	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagcacaatagggttTgggctgataaagttggagat	15	3	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:123657295T>C	uc004euj.2	-	17	3016	c.2952A>G	c.(2950-2952)CCA>CCG	p.P984P	ODZ1_uc011muj.1_Silent_p.P983P|ODZ1_uc010nqy.2_Silent_p.P984P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	984	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CAATAGGGTTTGGGCTGATAA	0.483													C	123657295	T	C	123657295	2	2	189	1	0	0	0	0	0	0	0	1	10834	1799	63	3		3	ODZ1	23	123657295	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	139362	123657295	31613265	5019	102876											
UTP14A	10813	broad.mit.edu	37	chrX	129053461	129053461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagaaaatcaaaagtAaaaagtaaggaggcccctgt	11	5	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:129053461A>G	uc004euz.2	+	8	776	c.748A>G	c.(748-750)AAA>GAA	p.K250E	UTP14A_uc011mup.1_Missense_Mutation_p.K198E|UTP14A_uc011muq.1_Missense_Mutation_p.K196E|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	250	Potential.				rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						AATCAAAAGTAAAAAGTAAGG	0.473													G	129053461	A	G	129053461	3	3	189	1	0	0	0	0	1	0	0	0	17092	363	13	3	778	3	UTP14A	23	129053461	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	5396166	129053461	26217099	5020	102877											
BCORL1	63035	broad.mit.edu	37	chrX	129189907	129189907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctttcaggcccggttcccGcactttgaaatcaccaccat	6	15	3	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:129189907G>A	uc004evb.1	+	13	5046	c.4932G>A	c.(4930-4932)CCG>CCA	p.P1644P	BCORL1_uc004evc.1_Silent_p.P480P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1644					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCCGGTTCCCGCACTTTGAAA	0.582													A	129189907	G	A	129189907	2	1	189	1	0	0	0	0	0	0	0	1	1387	1074	38	1		1	BCORL1	23	129189907	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	136446	129189907	26080653	5021	102878											
ELF4	2000	broad.mit.edu	37	chrX	129205039	129205039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgccccattgtctcaTagttcatgtcaggcttgttt	9	12	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:129205039T>C	uc004evd.3	-	7	1170	c.785A>G	c.(784-786)TAT>TGT	p.Y262C	ELF4_uc004eve.3_Missense_Mutation_p.Y262C	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	262	ETS.				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			ovary(1)	1						CATTGTCTCATAGTTCATGTC	0.527			T	ERG	AML								C	129205039	T	C	129205039	3	2	189	1	0	0	0	0	1	0	0	0	5056	1406	49	3	1218	3	ELF4	23	129205039	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	15132	129205039	26065521	5022	102879											
RBMX2	51634	broad.mit.edu	37	chrX	129546413	129546413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagagcaaccatcctcttCgtcacccagacgcaagacag	9	15	2	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:129546413C>T	uc004evt.2	+	6	624	c.560C>T	c.(559-561)TCG>TTG	p.S187L		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	187	Lys-rich.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4						CCATCCTCTTCGTCACCCAGA	0.433													T	129546413	C	T	129546413	3	4	189	1	0	0	0	0	1	0	0	0	13152	893	31	1	582	1	RBMX2	23	129546413	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	341374	129546413	25724147	5023	102880											
RAP2C	57826	broad.mit.edu	37	chrX	131348328	131348328	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgtctccatgaaaggAcagccccattcttgagccag	10	13	2	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:131348328A>T	uc004ewp.2	-	3	1204	c.420T>A	c.(418-420)TGT>TGA	p.C140*	RAP2C_uc004ewo.2_Nonsense_Mutation_p.C74*|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Nonsense_Mutation_p.C140*	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	140					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			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CCATGAAAGGACAGCCCCATT	0.443													T	131348328	A	T	131348328	4	4	189	1	0	0	0	0	0	1	0	0	13042	273	10	5	135	5	RAP2C	23	131348328	Nonsense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	1801915	131348328	23922232	5024	102881											
CCDC160	347475	broad.mit.edu	37	chrX	133379180	133379180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaacagcacagaagataActctacctgcagtacagata	6	10	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:133379180A>G	uc011mvj.1	+	2	671	c.350A>G	c.(349-351)AAC>AGC	p.N117S		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	117										skin(1)	1						ACAGAAGATAACTCTACCTGC	0.343													G	133379180	A	G	133379180	3	3	189	1	0	0	0	0	1	0	0	0	2792	43	2	3	352	3	CCDC160	23	133379180	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2030852	133379180	21891380	5025	102882											
ZNF75D	7626	broad.mit.edu	37	chrX	134421687	134421688	+	Frame_Shift_Ins	INS	-	-	T													gggcaattttcattctggtcINSttttttgatacttcgcatcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:134421687_134421688insT	uc004eyp.2	-	7	3569_3570	c.914_915insA	c.(913-915)AAGfs	p.K305fs	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Frame_Shift_Ins_p.K84fs|ZNF75D_uc004eyo.2_Frame_Shift_Ins_p.K210fs	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	305	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCATTCTGGTCTTTTTTGATAC	0.371													T	134421688	-	T	134421687	7	5	189	1	0	1	1	0	0	0	0	0	18131	912	32	0	621	0	ZNF75D	23	134421687	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	1042507	134421687	20848873	5026	102883	495	2									
ZNF75D	7626	broad.mit.edu	37	chrX	134421688	134421689	+	Frame_Shift_Ins	INS	-	-	T													ggcaattttcattctggtctINStttttgatacttcgcatcct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:134421687_134421688C>CT	uc022ceq.1	-	5	1304_1305	c.914_915G>AG	c.(913-915)aagfs	p.K305fs	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Frame_Shift_Ins_p.K210fs	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	305	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCATTCTGGTCTTTTTTGATAC	0.371													T	134421689	-	T	134421688	7	5	189	1	0	1	1	0	0	0	0	0	18131	1609	56	0	622	0	ZNF75D	23	134421688	Frame_Shift_Ins	INS	-	TCGA-CG-5721-01A-11D-1600-08	1	134421688	20848872	5027	102884	495	2									
ARHGEF6	9459	broad.mit.edu	37	chrX	135825784	135825784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acataattactggggaaccaGcctgttctcccatttaatgt	7	10	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:135825784G>A	uc004fab.2	-	5	1083	c.621C>T	c.(619-621)GGC>GGT	p.G207G	ARHGEF6_uc011mwd.1_Silent_p.G53G|ARHGEF6_uc011mwe.1_Silent_p.G53G	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	207	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				0	Acute lymphoblastic leukemia(192;0.000127)					TGGGGAACCAGCCTGTTCTCC	0.408													A	135825784	G	A	135825784	2	1	189	1	0	0	0	0	0	0	0	1	910	958	34	2		2	ARHGEF6	23	135825784	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1404096	135825784	19444776	5028	102885											
ATP11C	286410	broad.mit.edu	37	chrX	138878614	138878614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaatgataggaagtcggTgaacatttttaaaacctaaa	7	5	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:138878614T>C	uc004faz.2	-	12	1132	c.1033A>G	c.(1033-1035)ACC>GCC	p.T345A	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.T345A	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	345	Extracellular (Potential).				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			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					AGGAAGTCGGTGAACATTTTT	0.313													C	138878614	T	C	138878614	3	2	189	1	0	0	0	0	1	0	0	0	1121	1696	59	3	2504	3	ATP11C	23	138878614	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	3052830	138878614	16391946	5029	102886											
MAGEC3	139081	broad.mit.edu	37	chrX	140983059	140983059	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctctgctgtcagccctGgtcagccttggcagggttcg	13	14	3	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:140983059G>A	uc011mwp.1	+	5	914	c.914G>A	c.(913-915)TGG>TAG	p.W305*	MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	305	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCAGCCCTGGTCAGCCTTG	0.458													A	140983059	G	A	140983059	4	1	189	1	0	0	0	0	0	1	0	0	9182	1357	47	4	932	4	MAGEC3	23	140983059	Nonsense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2104445	140983059	14287501	5030	102887											
MAGEC1	9947	broad.mit.edu	37	chrX	140995386	140995386	+	Frame_Shift_Del	DEL	G	G	-													tttcctcagtttcctcctcaGggggaggacttccagtcttc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:140995386delG	uc004fbt.2	+	4	2482	c.2196delG	c.(2194-2196)CAGfs	p.Q732fs	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	732							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCCTCAGGGGGAGGACT	0.542										HNSCC(15;0.026)			-	140995386	G	-	140995386	7	5	189	1	0	1	0	1	0	0	0	0	9180	991	35	0	2202	0	MAGEC1	23	140995386	Frame_Shift_Del	DEL	G	TCGA-CG-5721-01A-11D-1600-08	12327	140995386	14275174	5031	102888											
SPANXN3	139067	broad.mit.edu	37	chrX	142596675	142596675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcctgtgaagatcctTcagataagcctaggtcttca	8	11	3	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:142596675T>C	uc004fbw.2	-	2	483	c.395A>G	c.(394-396)GAA>GGA	p.E132G		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	132										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATCCTTCAGATAAGCC	0.443													C	142596675	T	C	142596675	3	2	189	1	0	0	0	0	1	0	0	0	14992	1783	62	3	34	3	SPANXN3	23	142596675	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	1601289	142596675	12673885	5032	102889											
SLITRK2	84631	broad.mit.edu	37	chrX	144903977	144903977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggttcctcagtgtgttaAccgtggccgggatcttacag	12	9	2	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:144903977A>G	uc004fcd.2	+	5	1024	c.34A>G	c.(34-36)ACC>GCC	p.T12A	SLITRK2_uc010nsp.2_Missense_Mutation_p.T12A|SLITRK2_uc010nso.2_Missense_Mutation_p.T12A|SLITRK2_uc011mwq.1_Missense_Mutation_p.T12A|SLITRK2_uc011mwr.1_Missense_Mutation_p.T12A|SLITRK2_uc011mws.1_Missense_Mutation_p.T12A|SLITRK2_uc004fcg.2_Missense_Mutation_p.T12A|SLITRK2_uc011mwt.1_Missense_Mutation_p.T12A	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	12						integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTGTTAACCGTGGCCGG	0.502													G	144903977	A	G	144903977	3	3	189	1	0	0	0	0	1	0	0	0	14743	43	2	3	36	3	SLITRK2	23	144903977	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2307302	144903977	10366583	5033	102890											
FMR1NB	158521	broad.mit.edu	37	chrX	147106430	147106430	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggacaacagagttgtaacGggtttgaagaaacaaagaag	12	5	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:147106430G>T	uc004fcm.2	+	5	752	c.678G>T	c.(676-678)ACG>ACT	p.T226T		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	226	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTGTAACGGGTTTGAAGA	0.413													T	147106430	G	T	147106430	2	4	189	1	0	0	0	0	0	0	0	1	5961	1103	39	5		5	FMR1NB	23	147106430	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	2202453	147106430	8164130	5034	102891											
AFF2	2334	broad.mit.edu	37	chrX	147924950	147924950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctacaaagtcagtgtctTtcaaatcgtgagtagttgga	9	7	4	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:147924950T>C	uc004fcp.2	+	7	1734	c.1255T>C	c.(1255-1257)TTC>CTC	p.F419L	AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Intron|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Missense_Mutation_p.F386L|AFF2_uc011mxc.1_Missense_Mutation_p.F60L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	419					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAGTGTCTTTCAAATCGTG	0.398													C	147924950	T	C	147924950	3	2	189	1	0	0	0	0	1	0	0	0	357	1841	64	3	1336	3	AFF2	23	147924950	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	818520	147924950	7345610	5035	102892											
AFF2	2334	broad.mit.edu	37	chrX	148037624	148037624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagcccctaggaaagaAccaagacctaacatcccttt	5	14	0	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:148037624A>G	uc004fcp.2	+	11	2528	c.2049A>G	c.(2047-2049)GAA>GAG	p.E683E	AFF2_uc004fcq.2_Silent_p.E673E|AFF2_uc004fcr.2_Silent_p.E644E|AFF2_uc011mxb.1_Silent_p.E648E|AFF2_uc004fcs.2_Silent_p.E650E|AFF2_uc011mxc.1_Silent_p.E324E	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	683					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGGAAAGAACCAAGACCTA	0.493													G	148037624	A	G	148037624	2	3	189	1	0	0	0	0	0	0	0	1	357	40	2	3		3	AFF2	23	148037624	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	112674	148037624	7232936	5036	102893											
PASD1	139135	broad.mit.edu	37	chrX	150844591	150844591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattgatgcctgcagagcaAcgtgactcaaataagccgtg	11	9	1	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:150844591A>G	uc004fev.3	+	16	2630	c.2298A>G	c.(2296-2298)CAA>CAG	p.Q766Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	766						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGAGCAACGTGACTCAA	0.572													G	150844591	A	G	150844591	2	3	189	1	0	0	0	0	0	0	0	1	11471	40	2	3		3	PASD1	23	150844591	Silent	SNP	A	TCGA-CG-5721-01A-11D-1600-08	2806967	150844591	4425969	5037	102894											
PRRG3	79057	broad.mit.edu	37	chrX	150869406	150869406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacgaggaggtgactgcGccccaagagagcagcagtga	14	11	0	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:150869406G>A	uc004few.1	+	4	987	c.597G>A	c.(595-597)GCG>GCA	p.A199A		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	199	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACTGCGCCCCAAGAGA	0.622													A	150869406	G	A	150869406	2	1	189	1	0	0	0	0	0	0	0	1	12607	1074	38	1		1	PRRG3	23	150869406	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	24815	150869406	4401154	5038	102895											
PRRG3	79057	broad.mit.edu	37	chrX	150869501	150869501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccaaccctggcgctgacaAgtagtgggacgtttgtgccc	13	13	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:150869501A>G	uc004few.1	+	4	1082	c.692A>G	c.(691-693)AAG>AGG	p.K231R		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	231	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCTGACAAGTAGTGGGAC	0.537													G	150869501	A	G	150869501	3	3	189	1	0	0	0	0	1	0	0	0	12607	72	3	3	702	3	PRRG3	23	150869501	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	95	150869501	4401059	5039	102896											
GABRQ	55879	broad.mit.edu	37	chrX	151806730	151806730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcgcggagggcaactAccccagtcccatcccgaaat	10	16	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:151806730A>G	uc004ffp.1	+	1	94	c.74A>G	c.(73-75)TAC>TGC	p.Y25C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	25	Extracellular (Potential).					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			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGCAACTACCCCAGTCCC	0.642													G	151806730	A	G	151806730	3	3	189	1	0	0	0	0	1	0	0	0	6175	391	14	3	76	3	GABRQ	23	151806730	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	937229	151806730	3463830	5040	102897											
GABRQ	55879	broad.mit.edu	37	chrX	151821062	151821062	+	Frame_Shift_Del	DEL	C	C	-													ccccatcaccccagcgcaggCccccctggcaagcccggaaa							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:151821062delC	uc004ffp.1	+	9	1237	c.1217delC	c.(1216-1218)GCCfs	p.A406fs		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	406						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			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGCAGGCCCCCCTGGCA	0.587													-	151821062	C	-	151821062	7	5	189	1	0	1	0	1	0	0	0	0	6175	739	26	0	1251	0	GABRQ	23	151821062	Frame_Shift_Del	DEL	C	TCGA-CG-5721-01A-11D-1600-08	14332	151821062	3449498	5041	102898											
ATP2B3	492	broad.mit.edu	37	chrX	152813387	152813387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggagaagaagaaagccaaCgcacccaaaaaggagaagtc	12	9	0	4			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:152813387C>T	uc004fht.1	+	7	1179	c.1053C>T	c.(1051-1053)AAC>AAT	p.N351N	ATP2B3_uc004fhs.1_Silent_p.N351N	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	351	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAAAGCCAACGCACCCAAAA	0.597													T	152813387	C	T	152813387	2	4	189	1	0	0	0	0	0	0	0	1	1141	535	19	1		1	ATP2B3	23	152813387	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	992325	152813387	2457173	5042	102899											
PLXNB3	5365	broad.mit.edu	37	chrX	153043053	153043053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaccggcccatccccatcgCcgtcaagtacctgtttgacc	8	17	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153043053C>A	uc004fii.2	+	31	5345	c.5171C>A	c.(5170-5172)GCC>GAC	p.A1724D	PLXNB3_uc010nuk.2_Missense_Mutation_p.A1747D|PLXNB3_uc011mzd.1_Missense_Mutation_p.A1363D|SRPK3_uc004fik.2_5'UTR	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1724	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	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)					ATCCCCATCGCCGTCAAGTAC	0.592													A	153043053	C	A	153043053	3	1	189	1	0	0	0	0	1	0	0	0	12125	739	26	5	5407	5	PLXNB3	23	153043053	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	229666	153043053	2227507	5043	102900											
HCFC1	3054	broad.mit.edu	37	chrX	153225269	153225269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttgagtcctggctgcGgtgggcacagaaatggagct	14	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153225269G>A	uc004fjp.2	-	8	1956	c.1428C>T	c.(1426-1428)ACC>ACT	p.T476T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	476					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGGCTGCGGTGGGCACAG	0.672													A	153225269	G	A	153225269	2	1	189	1	0	0	0	0	0	0	0	1	6991	1103	39	1		1	HCFC1	23	153225269	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	182216	153225269	2045291	5044	102901											
TMEM187	8269	broad.mit.edu	37	chrX	153247940	153247941	+	Frame_Shift_Del	DEL	CT	CT	-													gctggcggccctggctgttcCtctctcttgagtgcgtctcc							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153247940_153247941delCT	uc004fjq.2	+	2	961_962	c.427_428delCT	c.(427-429)CTCfs	p.L143fs	hsa-mir-3202-2|MI0014253_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	transmembrane protein 187	143	Helical; (Potential).					integral to membrane|transport vesicle					0	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCTGTTCCTCTCTCTTGAG	0.673													-	153247941	CT	-	153247940	7	5	189	1	0	1	0	1	0	0	0	0	16106	681	24	0	429	0	TMEM187	23	153247940	Frame_Shift_Del	DEL	CT	TCGA-CG-5721-01A-11D-1600-08	22671	153247940	2022620	5045	102902											
TKTL1	8277	broad.mit.edu	37	chrX	153557991	153557991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatatgtatggaattAgtgccagacatatcatagtg	11	5	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153557991A>G	uc004fkg.2	+	13	1930	c.1744A>G	c.(1744-1746)AGT>GGT	p.S582G	TKTL1_uc011mzl.1_Missense_Mutation_p.S576G|TKTL1_uc011mzm.1_Missense_Mutation_p.S378G|TKTL1_uc004fkh.2_Missense_Mutation_p.S526G	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	582					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	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)					GTATGGAATTAGTGCCAGACA	0.468													G	153557991	A	G	153557991	3	3	189	1	0	0	0	0	1	0	0	0	15932	420	15	3	1794	3	TKTL1	23	153557991	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	310051	153557991	1712569	5046	102903											
FLNA	2316	broad.mit.edu	37	chrX	153578115	153578115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatgggggtataggtgAcgcggtagccctcagggcac	17	10	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153578115A>G	uc004fkk.2	-	46	7703	c.7454T>C	c.(7453-7455)GTC>GCC	p.V2485A	FLNA_uc004fki.2_Missense_Mutation_p.V525A|FLNA_uc011mzn.1_Missense_Mutation_p.V618A|FLNA_uc010nuu.1_Missense_Mutation_p.V2477A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2485	Filamin 23.				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)					GGTATAGGTGACGCGGTAGCC	0.612											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	153578115	A	G	153578115	3	3	189	1	0	0	0	0	1	0	0	0	5933	275	10	3	501	3	FLNA	23	153578115	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	20124	153578115	1692445	5047	102904											
FLNA	2316	broad.mit.edu	37	chrX	153588878	153588878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggccacctgtgccGgcgcccttggtgtcgatggt	15	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153588878G>A	uc004fkk.2	-	22	3534	c.3285C>T	c.(3283-3285)GCC>GCT	p.A1095A	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.A1095A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1095	Filamin 9.				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)					CACCTGTGCCGGCGCCCTTGG	0.682											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	153588878	G	A	153588878	2	1	189	1	0	0	0	0	0	0	0	1	5933	1103	39	1		1	FLNA	23	153588878	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	10763	153588878	1681682	5048	102905											
FLNA	2316	broad.mit.edu	37	chrX	153593012	153593012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcctcctgcggccagTagcgcacatcacaggagccg	12	17	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153593012T>C	uc004fkk.2	-	13	2153	c.1904A>G	c.(1903-1905)TAC>TGC	p.Y635C	FLNA_uc010nuu.1_Missense_Mutation_p.Y635C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	635	Filamin 4.				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)					CTGCGGCCAGTAGCGCACATC	0.622													C	153593012	T	C	153593012	3	2	189	1	0	0	0	0	1	0	0	0	5933	1638	57	3	6183	3	FLNA	23	153593012	Missense_Mutation	SNP	T	TCGA-CG-5721-01A-11D-1600-08	4134	153593012	1677548	5049	102906											
FLNA	2316	broad.mit.edu	37	chrX	153594737	153594737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccactgggctccaggccGggaccttgggctgtcacttt	13	13	1	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153594737G>A	uc004fkk.2	-	8	1416	c.1167C>T	c.(1165-1167)CCC>CCT	p.P389P	FLNA_uc010nuu.1_Silent_p.P389P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	389	Filamin 2.				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)					GCTCCAGGCCGGGACCTTGGG	0.592													A	153594737	G	A	153594737	2	1	189	1	0	0	0	0	0	0	0	1	5933	1103	39	1		1	FLNA	23	153594737	Silent	SNP	G	TCGA-CG-5721-01A-11D-1600-08	1725	153594737	1675823	5050	102907											
FAM50A	9130	broad.mit.edu	37	chrX	153674214	153674214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctctggtgaaggagcGggagaagcagctggccaaga	19	7	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153674214G>A	uc004fll.3	+	3	349	c.251G>A	c.(250-252)CGG>CAG	p.R84Q		NM_004699	NP_004690	Q14320	FA50A_HUMAN	XAP-5 protein	84					spermatogenesis	nucleus				ovary(1)	1	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)					GTGAAGGAGCGGGAGAAGCAG	0.607													A	153674214	G	A	153674214	3	1	189	1	0	0	0	0	1	0	0	0	5577	1116	39	1	261	1	FAM50A	23	153674214	Missense_Mutation	SNP	G	TCGA-CG-5721-01A-11D-1600-08	79477	153674214	1596346	5051	102908											
PLXNA3	55558	broad.mit.edu	37	chrX	153688930	153688930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagctgggtgagccgcaccAccgcaaggagcactacctgt	12	14	0	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153688930A>G	uc004flm.2	+	2	580	c.407A>G	c.(406-408)CAC>CGC	p.H136R		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	136	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					GAGCCGCACCACCGCAAGGAG	0.667													G	153688930	A	G	153688930	3	3	189	1	0	0	0	0	1	0	0	0	12121	159	6	3	409	3	PLXNA3	23	153688930	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	14716	153688930	1581630	5052	102909											
GAB3	139716	broad.mit.edu	37	chrX	153906491	153906491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatccgtccactcctgTtttgtgctctggagagcctg	9	13	2	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:153906491T>C	uc004fmj.1	-	10	1773	c.1725A>G	c.(1723-1725)AAA>AAG	p.K575K	GAB3_uc004fmk.1_Silent_p.K576K|GAB3_uc010nve.1_Silent_p.K537K|GAB3_uc004fml.1_Silent_p.K195K	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	575										ovary(1)	1	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)					TCCACTCCTGTTTTGTGCTCT	0.453													C	153906491	T	C	153906491	2	2	189	1	0	0	0	0	0	0	0	1	6150	1722	60	3		3	GAB3	23	153906491	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	217561	153906491	1364069	5053	102910											
MPP1	4354	broad.mit.edu	37	chrX	154007457	154007457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctacaagcttagtAaacccaggagacaggcaccc	7	15	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:154007457A>G	uc004fmp.1	-	12	1511	c.1396T>C	c.(1396-1398)TAC>CAC	p.Y466H	MPP1_uc010nvg.1_Missense_Mutation_p.Y446H|MPP1_uc011mzv.1_Missense_Mutation_p.Y436H|MPP1_uc004fmq.1_Missense_Mutation_p.Y420H|MPP1_uc011mzw.1_Missense_Mutation_p.Y449H	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	466	Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)					CAAGCTTAGTAAACCCAGGAG	0.488													G	154007457	A	G	154007457	3	3	189	1	0	0	0	0	1	0	0	0	9733	362	13	3	8	3	MPP1	23	154007457	Missense_Mutation	SNP	A	TCGA-CG-5721-01A-11D-1600-08	100966	154007457	1263103	5054	102911											
H2AFB1	474382	broad.mit.edu	37	chrX	154113626	154113626	+	Frame_Shift_Del	DEL	T	T	-													cgacaggctactgagcacccTtttcaacacgaccaccatct							TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:154113626delT	uc004fmu.2	+	1	310	c.302delT	c.(301-303)CTTfs	p.L101fs	F8_uc004fmt.2_Intron|F8_uc004fms.2_Intron|F8A1_uc004fmv.2_5'Flank	NM_080720	NP_542451	P0C5Y9	H2AB1_HUMAN	H2A histone family, member B3	101	Docking domain.				nucleosome assembly	nucleosome|nucleus	DNA binding				0	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)					CTGAGCACCCTTTTCAACACG	0.637													-	154113626	T	-	154113626	7	5	189	1	0	1	0	1	0	0	0	0	6924	1609	56	0	304	0	H2AFB1	23	154113626	Frame_Shift_Del	DEL	T	TCGA-CG-5721-01A-11D-1600-08	106169	154113626	1156934	5055	102912											
F8	2157	broad.mit.edu	37	chrX	154130394	154130394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaataaggcattccaccCgccaaattccagctttggat	7	14	0	0			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:154130394C>T	uc004fmt.2	-	19	6218	c.6047G>A	c.(6046-6048)CGG>CAG	p.R2016Q	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2016	F5/8 type A 3.|Plastocyanin-like 6.		R -> P (in HEMA; severe familial).|R -> W (in HEMA; severe/moderate/mild).		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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	GCATTCCACCCGCCAAATTCC	0.423													T	154130394	C	T	154130394	3	4	189	1	0	0	0	0	1	0	0	0	5350	652	23	1	1068	1	F8	23	154130394	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	16768	154130394	1140166	5056	102913											
F8	2157	broad.mit.edu	37	chrX	154158195	154158195	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagttttcttcctccccTttttttgagaaatgagctgt	6	10	1	2			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:154158195T>C	uc004fmt.2	-	14	4041	c.3870A>G	c.(3868-3870)AAA>AAG	p.K1290K		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1290	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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	CTTCCTCCCCTTTTTTTGAGA	0.383													C	154158195	T	C	154158195	2	2	189	1	0	0	0	0	0	0	0	1	5350	1606	56	3		3	F8	23	154158195	Silent	SNP	T	TCGA-CG-5721-01A-11D-1600-08	27801	154158195	1112365	5057	102914											
TMLHE	55217	broad.mit.edu	37	chrX	154741369	154741369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataggtagtgtcagtgtgCcgatccagagctagcttggt	13	7	1	1			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:154741369C>T	uc004fnn.2	-	5	889	c.723G>A	c.(721-723)CGG>CGA	p.R241R	TMLHE_uc004fno.2_Silent_p.R241R|TMLHE_uc004fnp.3_Silent_p.R241R	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	241					carnitine biosynthetic process	mitochondrial 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|trimethyllysine dioxygenase activity			ovary(1)	1	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGTCAGTGTGCCGATCCAGAG	0.413													T	154741369	C	T	154741369	2	4	189	1	0	0	0	0	0	0	0	1	16229	726	26	2		2	TMLHE	23	154741369	Silent	SNP	C	TCGA-CG-5721-01A-11D-1600-08	583174	154741369	529191	5058	102915											
SPRY3	10251	broad.mit.edu	37	chrX	155003541	155003541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaaggcaaaatggatgCtgcggtgacagatgattttc	11	6	1	3			TCGA-CG-5721-01A-11D-1600-08	TCGA-CG-5721-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a	3622f6a0-d481-4c2b-874c-1e3965f39982	g.chrX:155003541C>A	uc004fnq.1	+	2	462	c.8C>A	c.(7-9)GCT>GAT	p.A3D	SPRY3_uc010nvl.1_Missense_Mutation_p.A3D	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	3					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	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)					AAAATGGATGCTGCGGTGACA	0.463													A	155003541	C	A	155003541	3	1	189	1	0	0	0	0	1	0	0	0	15106	797	28	5	10	5	SPRY3	23	155003541	Missense_Mutation	SNP	C	TCGA-CG-5721-01A-11D-1600-08	262172	155003541	267019	5059	102916											
EPHA8	2046	broad.mit.edu	37	chr1	22927491	22927491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttggcacaaggaccgggCgcagcggcctcgcttctccc	13	16	1	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr1:22927491C>T	uc001bfx.1	+	15	2764	c.2639C>T	c.(2638-2640)GCG>GTG	p.A880V		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	880	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		AAGGACCGGGCGCAGCGGCCT	0.662													T	22927491	C	T	22927491	3	4	190	1	0	0	0	0	1	0	0	0	5173	768	27	1	2870	1	EPHA8	1	22927491	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		22927491	226323130	1	102917											
CD53	963	broad.mit.edu	37	chr1	111441780	111441780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcactgaccctgaactGccagattgacaaaaccagcc	7	14	0	4			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr1:111441780G>T	uc001dzw.2	+	9	794	c.623G>T	c.(622-624)TGC>TTC	p.C208F	CD53_uc001dzx.2_Missense_Mutation_p.C208F|CD53_uc010owa.1_Missense_Mutation_p.C149F|CD53_uc001dzy.2_Missense_Mutation_p.C153F	NM_001040033	NP_001035122	P19397	CD53_HUMAN	CD53 antigen	208	Cytoplasmic (Potential).				signal transduction	integral to membrane|plasma membrane					0		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ACCCTGAACTGCCAGATTGAC	0.443													T	111441780	G	T	111441780	3	4	190	1	0	0	0	0	1	0	0	0	3023	1319	46	5	649	5	CD53	1	111441780	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	88514289	111441780	137808841	2	102918											
MAGI3	260425	broad.mit.edu	37	chr1	114225853	114225853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacacgaagaggtagatcGgttagtcccaaaaagccagc	11	9	0	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr1:114225853G>A	uc001edk.2	+	21	3844	c.3663G>A	c.(3661-3663)TCG>TCA	p.S1221S	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1246					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	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)		GAGGTAGATCGGTTAGTCCCA	0.398													A	114225853	G	A	114225853	2	1	190	1	0	0	0	0	0	0	0	1	9192	1103	39	1		1	MAGI3	1	114225853	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	2784073	114225853	135024768	3	102919											
PDE4DIP	9659	broad.mit.edu	37	chr1	144917576	144917576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgctctctcacagcaagacGaagctggcgcagttcttttt	9	12	3	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr1:144917576G>A	uc001elw.3	-	12	1819	c.1528C>T	c.(1528-1530)CGT>TGT	p.R510C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R576C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R510C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R510C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R673C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R39C|PDE4DIP_uc001emf.1_Missense_Mutation_p.R297C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	510	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACAGCAAGACGAAGCTGGCGC	0.443			T	PDGFRB	MPD								A	144917576	G	A	144917576	3	1	190	1	0	0	0	0	1	0	0	0	11643	1058	37	1	5654	1	PDE4DIP	1	144917576	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	30691723	144917576	104333045	4	102920											
OR6K3	391114	broad.mit.edu	37	chr1	158687142	158687142	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaacgcaagtacatgagtGatacactgccaaagaatatc	8	8	0	4	rs79482939	by1000genomes	TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr1:158687142G>A	uc010pip.1	-	1	812	c.812C>T	c.(811-813)TCA>TTA	p.S271L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	271	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GTACATGAGTGATACACTGCC	0.453													A	158687142	G	A	158687142	3	1	190	1	0	0	0	0	1	0	0	0	11203	1294	45	4	185	4	OR6K3	1	158687142	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	13769566	158687142	90563479	5	102921											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650895	232650895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggggtaccattagccGgaccaccaccgccagtctca	10	16	1	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr1:232650895G>A	uc001hvg.2	-	1	349	c.191C>T	c.(190-192)CCG>CTG	p.P64L		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	64					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCATTAGCCGGACCACCACC	0.483													A	232650895	G	A	232650895	3	1	190	1	0	0	0	0	1	0	0	0	14330	1116	39	1	5061	1	SIPA1L2	1	232650895	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	73963753	232650895	16599726	6	102922											
OR2T12	127064	broad.mit.edu	37	chr1	248457935	248457935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatcatcttgacctgtgggCctcattttgctggtgtttta	10	8	3	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr1:248457935C>A	uc010pzj.1	-	1	946	c.946G>T	c.(946-948)GCC>TCC	p.A316S		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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)			GACCTGTGGGCCTCATTTTGC	0.418													A	248457935	C	A	248457935	3	1	190	1	0	0	0	0	1	0	0	0	11019	739	26	5	19	5	OR2T12	1	248457935	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	15807040	248457935	792686	7	102923											
NFE2L2	4780	broad.mit.edu	37	chr2	178096690	178096690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttggcttctggacttGgaaccatggtagtctcaacc	10	10	3	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr2:178096690G>T	uc002ulh.3	-	5	1196	c.641C>A	c.(640-642)CCA>CAA	p.P214Q	NFE2L2_uc002ulg.3_Missense_Mutation_p.P198Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.P191Q|NFE2L2_uc002uli.3_Missense_Mutation_p.P198Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	214					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)	1			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)			TTCTGGACTTGGAACCATGGT	0.338			Mis		NSCLC|HNSCC					HNSCC(56;0.16)			T	178096690	G	T	178096690	3	4	190	1	0	0	0	0	1	0	0	0	10368	1348	47	5	1180	5	NFE2L2	2	178096690	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08		178096690	65102683	8	102924											
TTN	7273	broad.mit.edu	37	chr2	179426117	179426117	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaaggatctcttgcagGgactggttcacaagatttac	10	9	3	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr2:179426117G>C	uc010zfg.1	-	275	77262	c.77038C>G	c.(77038-77040)CCT>GCT	p.P25680A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P19375A|TTN_uc010zfi.1_Missense_Mutation_p.P19308A|TTN_uc010zfj.1_Missense_Mutation_p.P19183A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26607							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTGCAGGGACTGGTTCA	0.413													C	179426117	G	C	179426117	3	2	190	1	0	0	0	0	1	0	0	0	16732	1232	43	5	23385	5	TTN	2	179426117	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	1329427	179426117	63773256	9	102925											
TTN	7273	broad.mit.edu	37	chr2	179581972	179581972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtagttgcctccagggcGaatctctcggttatctttgg	11	10	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr2:179581972G>A	uc010zfg.1	-	85	21981	c.21757C>T	c.(21757-21759)CGC>TGC	p.R7253C	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3914C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8180							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCAGGGCGAATCTCTCGG	0.458													A	179581972	G	A	179581972	3	1	190	1	0	0	0	0	1	0	0	0	16732	1058	37	1	79140	1	TTN	2	179581972	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	155855	179581972	63617401	10	102926											
PARD3B	117583	broad.mit.edu	37	chr2	205990415	205990415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagcagggggagacagcatCgctggtcattgcccgccaag	14	12	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr2:205990415C>T	uc002var.1	+	10	1595	c.1388C>T	c.(1387-1389)TCG>TTG	p.S463L	PARD3B_uc010fub.1_Missense_Mutation_p.S463L|PARD3B_uc002vao.1_Missense_Mutation_p.S463L|PARD3B_uc002vap.1_Missense_Mutation_p.S463L|PARD3B_uc002vaq.1_Missense_Mutation_p.S463L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	463	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGACAGCATCGCTGGTCATT	0.488													T	205990415	C	T	205990415	3	4	190	1	0	0	0	0	1	0	0	0	11444	893	31	1	1426	1	PARD3B	2	205990415	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	26408443	205990415	37208958	11	102927											
SLC16A14	151473	broad.mit.edu	37	chr2	230910835	230910835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgacgatttctgggaggTgaatgaaggggatgacaaag	15	3	1	4			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr2:230910835T>C	uc002vqd.1	-	4	1370	c.1007A>G	c.(1006-1008)CAC>CGC	p.H336R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.H336R|SLC16A14_uc002vqf.2_Missense_Mutation_p.H336R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	336	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		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)		TTCTGGGAGGTGAATGAAGGG	0.403													C	230910835	T	C	230910835	3	2	190	1	0	0	0	0	1	0	0	0	14407	1696	59	3	533	3	SLC16A14	2	230910835	Missense_Mutation	SNP	T	TCGA-CG-5722-01A-21D-1600-08	24920420	230910835	12288538	12	102928											
TRANK1	9881	broad.mit.edu	37	chr3	36896947	36896947	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgggagcaccctgagcttCgacagcctccgggatatgtt	12	12	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr3:36896947C>T	uc003cgj.2	-	3	2786	c.2484G>A	c.(2482-2484)TCG>TCA	p.S828S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1378					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CCCTGAGCTTCGACAGCCTCC	0.493													T	36896947	C	T	36896947	2	4	190	1	0	0	0	0	0	0	0	1	16451	871	31	1		1	TRANK1	3	36896947	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08		36896947	161125483	13	102929											
PCBP4	57060	broad.mit.edu	37	chr3	51992845	51992845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagggcgatggagaccGgagagccagtgatggtgaca	19	8	0	4			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr3:51992845G>A	uc003dcd.1	-	11	1280	c.884C>T	c.(883-885)CCG>CTG	p.P295L	PCBP4_uc003dcb.1_Missense_Mutation_p.P261L|PCBP4_uc003dcc.1_Missense_Mutation_p.P316L|PCBP4_uc003dce.1_Silent_p.S296S|PCBP4_uc003dcf.1_Missense_Mutation_p.P295L|PCBP4_uc003dcg.1_Missense_Mutation_p.P261L|PCBP4_uc003dch.1_Missense_Mutation_p.P295L|PCBP4_uc003dci.1_Missense_Mutation_p.P135L|PCBP4_uc003dcj.1_Missense_Mutation_p.P295L|PCBP4_uc003dck.1_Missense_Mutation_p.P252L|PCBP4_uc003dcl.1_Missense_Mutation_p.P295L	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	295						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GATGGAGACCGGAGAGCCAGT	0.627													A	51992845	G	A	51992845	3	1	190	1	0	0	0	0	1	0	0	0	11503	1116	39	1	335	1	PCBP4	3	51992845	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	15095898	51992845	146029585	14	102930											
KALRN	8997	broad.mit.edu	37	chr3	124436117	124436117	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatggccggctcttagActaccttatgaatcatgatg	11	8	2	4			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr3:124436117A>T	uc003ehg.2	+	59	8427	c.8300A>T	c.(8299-8301)GAC>GTC	p.D2767V	KALRN_uc003ehk.2_Missense_Mutation_p.D1070V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2766	Protein kinase.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CGGCTCTTAGACTACCTTATG	0.408													T	124436117	A	T	124436117	3	4	190	1	0	0	0	0	1	0	0	0	7975	275	10	5	8690	5	KALRN	3	124436117	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08	72443272	124436117	73586313	15	102931											
VEPH1	79674	broad.mit.edu	37	chr3	157188240	157188240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcatgcttttcaatggactCggtctctctgatggctgttg	11	9	3	1	rs141413130		TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr3:157188240C>T	uc003fbj.1	-	3	534	c.217G>A	c.(217-219)GAG>AAG	p.E73K	VEPH1_uc003fbk.1_Missense_Mutation_p.E73K|VEPH1_uc010hvu.1_Missense_Mutation_p.E73K|VEPH1_uc003fbm.2_Missense_Mutation_p.E73K|VEPH1_uc003fbn.2_Missense_Mutation_p.E73K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	73						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCAATGGACTCGGTCTCTCTG	0.458													T	157188240	C	T	157188240	3	4	190	1	0	0	0	0	1	0	0	0	17151	893	31	1	2454	1	VEPH1	3	157188240	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	32752123	157188240	40834190	16	102932											
SAMD7	344658	broad.mit.edu	37	chr3	169644391	169644391	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggagaatggaaaaaaTtaatcccaagggactagcag	11	6	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr3:169644391T>A	uc003fgd.2	+	6	608	c.341T>A	c.(340-342)ATT>AAT	p.I114N	SAMD7_uc003fge.2_Missense_Mutation_p.I114N|SAMD7_uc011bpo.1_Missense_Mutation_p.I15N	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	114										skin(1)	1	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)			ATGGAAAAAATTAATCCCAAG	0.453													A	169644391	T	A	169644391	3	1	190	1	0	0	0	0	1	0	0	0	13824	1493	52	5	355	5	SAMD7	3	169644391	Missense_Mutation	SNP	T	TCGA-CG-5722-01A-21D-1600-08	12456151	169644391	28378039	17	102933											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	190	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	9291700	178936091	19086339	18	102934											
DNAJB11	51726	broad.mit.edu	37	chr3	186299790	186299790	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctctttacctcagactagtGaatgaagaacgaacgctgga	9	9	2	4			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr3:186299790G>C	uc003fqi.2	+	6	826	c.606G>C	c.(604-606)GTG>GTC	p.V202V		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	202					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TCAGACTAGTGAATGAAGAAC	0.333													C	186299790	G	C	186299790	2	2	190	1	0	0	0	0	0	0	0	1	4616	1277	45	5		5	DNAJB11	3	186299790	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	7363699	186299790	11722640	19	102935											
HNRNPD	3184	broad.mit.edu	37	chr4	83278030	83278030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatattgttccttcgacaTggctacttttatttcacact	5	10	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr4:83278030T>C	uc003hmm.1	-	6	1090	c.772A>G	c.(772-774)ATG>GTG	p.M258V	HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Missense_Mutation_p.M239V|HNRNPD_uc003hmo.1_Missense_Mutation_p.M258V|HNRNPD_uc003hmp.1_Missense_Mutation_p.M239V|HNRNPD_uc010ijr.1_Missense_Mutation_p.M239V|HNRNPD_uc011cci.1_Missense_Mutation_p.M104V	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D	258	RRM 2.				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				0						TCCTTCGACATGGCTACTTTT	0.373													C	83278030	T	C	83278030	3	2	190	1	0	0	0	0	1	0	0	0	7264	1464	51	3	307	3	HNRNPD	4	83278030	Missense_Mutation	SNP	T	TCGA-CG-5722-01A-21D-1600-08		83278030	107876246	20	102936											
CDS1	1040	broad.mit.edu	37	chr4	85553014	85553014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgaagaaacattatcGtctgcagttttatatggtgt	10	4	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr4:85553014G>A	uc011ccv.1	+	6	1121	c.623G>A	c.(622-624)CGT>CAT	p.R208H	CDS1_uc010ike.1_Missense_Mutation_p.R12H	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	208					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAACATTATCGTCTGCAGTTT	0.328													A	85553014	G	A	85553014	3	1	190	1	0	0	0	0	1	0	0	0	3177	1145	40	1	645	1	CDS1	4	85553014	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	2274984	85553014	105601262	21	102937											
TLL1	7092	broad.mit.edu	37	chr4	167012436	167012436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaaataaaatgtttgttCggtttgtttctgatgcatct	9	5	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr4:167012436C>T	uc003irh.1	+	19	3246	c.2599C>T	c.(2599-2601)CGG>TGG	p.R867W	TLL1_uc011cjn.1_Missense_Mutation_p.R890W|TLL1_uc011cjo.1_Missense_Mutation_p.R691W	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	867	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATGTTTGTTCGGTTTGTTTC	0.403													T	167012436	C	T	167012436	3	4	190	1	0	0	0	0	1	0	0	0	15942	875	31	1	2673	1	TLL1	4	167012436	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	81459422	167012436	24141840	22	102938											
ANKRD55	79722	broad.mit.edu	37	chr5	55407173	55407173	+	Frame_Shift_Del	DEL	G	G	-													tcgacttttctgagatcgctGggccatatgatgaggagcag							TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr5:55407172_55407172TG>T	uc003jqu.3	-	9	1555	c.1403_1403CA>A	c.(1402-1404)cagfs	p.Q468fs	ANKRD55_uc003jqt.3_Frame_Shift_Del_p.Q180fs	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	467										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTGAGATCGCTGGGCCATATG	0.493													-	55407173	G	-	55407173	7	5	190	1	0	1	0	1	0	0	0	0	681	1357	47	0	454	0	ANKRD55	5	55407173	Frame_Shift_Del	DEL	G	TCGA-CG-5722-01A-21D-1600-08		55407173	125508087	23	102939											
PCDHA1	56147	broad.mit.edu	37	chr5	140166324	140166324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatctagactcctgaattCgcgttttccgatagaaggag	10	8	1	4			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr5:140166324C>T	uc003lhb.2	+	1	449	c.449C>T	c.(448-450)TCG>TTG	p.S150L	PCDHA1_uc003lha.2_Missense_Mutation_p.S150L|PCDHA1_uc003lgz.2_Missense_Mutation_p.S150L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	150	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAATTCGCGTTTTCCG	0.443													T	140166324	C	T	140166324	3	4	190	1	0	0	0	0	1	0	0	0	11519	893	31	1	451	1	PCDHA1	5	140166324	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	84759151	140166324	40748936	24	102940											
PCDHA6	56142	broad.mit.edu	37	chr5	140208285	140208285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatccttggacagagaGgaagctcctgcacacaactt	9	10	0	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr5:140208285G>T	uc003lho.2	+	1	636	c.609G>T	c.(607-609)GAG>GAT	p.E203D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.E203D|PCDHA6_uc011dab.1_Missense_Mutation_p.E203D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	203	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGAGGAAGCTCCTG	0.448													T	140208285	G	T	140208285	3	4	190	1	0	0	0	0	1	0	0	0	11528	991	35	5	611	5	PCDHA6	5	140208285	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	41961	140208285	40706975	25	102941											
PCDHA8	56140	broad.mit.edu	37	chr5	140222835	140222835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacgaagcggactctccGcgccaccgtctgctggtcct	12	16	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr5:140222835G>A	uc003lhs.2	+	1	1929	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P643P	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	643	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACTCTCCGCGCCACCGTC	0.662													A	140222835	G	A	140222835	2	1	190	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222835	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	14550	140222835	40692425	26	102942											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741004	140741004	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagccgcccctctcctcCagcataattgtcaccctgca	7	18	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr5:140741004C>A	uc003ljs.1	+	1	1302	c.1302C>A	c.(1300-1302)TCC>TCA	p.S434S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.S434S|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	434	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTCCTCCAGCATAATTG	0.542													A	140741004	C	A	140741004	2	1	190	1	0	0	0	0	0	0	0	1	11563	581	21	5		5	PCDHGB2	5	140741004	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	518169	140741004	40174256	27	102943											
NR3C1	2908	broad.mit.edu	37	chr5	142779330	142779330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccaattttcggaaccaaCgggaattggtggaatgacat	10	7	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr5:142779330C>T	uc003lmz.2	-	2	1567	c.1075G>A	c.(1075-1077)GTT>ATT	p.V359I	NR3C1_uc003lmy.2_Missense_Mutation_p.V359I|NR3C1_uc003lna.2_Missense_Mutation_p.V359I|NR3C1_uc003lnb.2_Missense_Mutation_p.V359I|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.V359I|NR3C1_uc003lnd.2_Missense_Mutation_p.V359I|NR3C1_uc003lne.2_Missense_Mutation_p.V359I|NR3C1_uc003lnf.2_Missense_Mutation_p.V359I|NR3C1_uc003lng.2_Missense_Mutation_p.V359I|NR3C1_uc003lnh.2_Missense_Mutation_p.V359I|NR3C1_uc003lni.2_Missense_Mutation_p.V359I	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	359	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		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)	TCGGAACCAACGGGAATTGGT	0.443													T	142779330	C	T	142779330	3	4	190	1	0	0	0	0	1	0	0	0	10630	536	19	1	1345	1	NR3C1	5	142779330	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	2038326	142779330	38135930	28	102944											
GRIA1	2890	broad.mit.edu	37	chr5	153149797	153149797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccatcagtttttgtgCggaccacagaggaggggatg	15	8	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr5:153149797C>T	uc003lva.3	+	13	2457	c.2092C>T	c.(2092-2094)CGG>TGG	p.R698W	GRIA1_uc003luy.3_Missense_Mutation_p.R698W|GRIA1_uc003luz.3_Missense_Mutation_p.R603W|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R618W|GRIA1_uc011dcx.1_Missense_Mutation_p.R629W|GRIA1_uc011dcy.1_Missense_Mutation_p.R708W|GRIA1_uc011dcz.1_Missense_Mutation_p.R708W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	698	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	AGTTTTTGTGCGGACCACAGA	0.463													T	153149797	C	T	153149797	3	4	190	1	0	0	0	0	1	0	0	0	6767	759	27	1	2142	1	GRIA1	5	153149797	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	10370467	153149797	27765463	29	102945											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827350	34827351	+	Splice_Site	INS	-	-	T													gtccctgcccccagccaagtINSaagtggctctgtacctcctt							TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr6:34827349_34827350G>GT	uc003oju.4	+	14	3449	c.3215_splice	c.e14+1	p.K1072_splice	UHRF1BP1_uc010jvm.2_Splice_Site|UHRF1BP1_uc010jvn.3_Splice_Site|UHRF1BP1_uc010jvo.3_Splice_Site	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1072										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCCAGCCAAGTAAGTGGCTCT	0.49													T	34827351	-	T	34827350	8	5	190	1	0	1	1	0	0	0	1	0	16965	1652	57	0	3271	0	UHRF1BP1	6	34827350	Splice_Site	INS	-	TCGA-CG-5722-01A-21D-1600-08		34827350	136287717	30	102946											
POLH	5429	broad.mit.edu	37	chr6	43581728	43581728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaaaccagtcaaagtAcaggaactgagcccttcttt	6	11	3	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr6:43581728A>G	uc003ovq.3	+	11	1880	c.1576A>G	c.(1576-1578)ACA>GCA	p.T526A	POLH_uc010jyu.2_Missense_Mutation_p.T402A|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.T427A	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	526					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(2)	2	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)			CAGTCAAAGTACAGGAACTGA	0.433								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				G	43581728	A	G	43581728	3	3	190	1	0	0	0	0	1	0	0	0	12202	391	14	3	1614	3	POLH	6	43581728	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08	8754378	43581728	127533339	31	102947											
MUT	4594	broad.mit.edu	37	chr6	49415470	49415470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttttccaactggtaCttatttactccaacaattac	2	11	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr6:49415470C>T	uc003ozg.3	-	8	1728	c.1473G>A	c.(1471-1473)AAG>AAA	p.K491K		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	491					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAACTGGTACTTATTTACTC	0.318													T	49415470	C	T	49415470	2	4	190	1	0	0	0	0	0	0	0	1	9991	564	20	4		4	MUT	6	49415470	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	5833742	49415470	121699597	32	102948											
KCNQ5	56479	broad.mit.edu	37	chr6	73904416	73904416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgcagttcattctgaCgccaaatgagttcagtgccc	10	12	3	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr6:73904416C>T	uc003pgk.2	+	14	2425	c.2078C>T	c.(2077-2079)ACG>ATG	p.T693M	KCNQ5_uc011dyh.1_Missense_Mutation_p.T712M|KCNQ5_uc011dyi.1_Missense_Mutation_p.T703M|KCNQ5_uc010kat.2_Missense_Mutation_p.T684M|KCNQ5_uc011dyj.1_Missense_Mutation_p.T583M|KCNQ5_uc011dyk.1_Missense_Mutation_p.T443M	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	693					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCATTCTGACGCCAAATGAG	0.502													T	73904416	C	T	73904416	3	4	190	1	0	0	0	0	1	0	0	0	8086	536	19	1	2193	1	KCNQ5	6	73904416	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	24488946	73904416	97210651	33	102949											
COL12A1	1303	broad.mit.edu	37	chr6	75838110	75838110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttgcaggggctgcagtAttacattgtttcttctgcct	11	9	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr6:75838110A>G	uc003phs.2	-	38	6408	c.6242T>C	c.(6241-6243)ATA>ACA	p.I2081T	COL12A1_uc003pht.2_Missense_Mutation_p.I917T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2081	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGGCTGCAGTATTACATTGTT	0.378													G	75838110	A	G	75838110	3	3	190	1	0	0	0	0	1	0	0	0	3669	449	16	3	3065	3	COL12A1	6	75838110	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08	1933694	75838110	95276957	34	102950											
SYNE1	23345	broad.mit.edu	37	chr6	152673313	152673313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagacctttttccagcGtcatgtgttctttccggaca	8	10	2	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr6:152673313G>A	uc010kiw.2	-	70	12031	c.11429C>T	c.(11428-11430)ACG>ATG	p.T3810M	SYNE1_uc003qot.3_Missense_Mutation_p.T3795M|SYNE1_uc003qou.3_Missense_Mutation_p.T3810M|SYNE1_uc010kja.1_Missense_Mutation_p.T515M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3810	Cytoplasmic (Potential).|Potential.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTTCCAGCGTCATGTGTTC	0.438										HNSCC(10;0.0054)			A	152673313	G	A	152673313	3	1	190	1	0	0	0	0	1	0	0	0	15442	1145	40	1	15345	1	SYNE1	6	152673313	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	76835203	152673313	18441754	35	102951											
MACC1	346389	broad.mit.edu	37	chr7	20198241	20198241	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttttaccttaccttccccGaggagagctattgtgtcccc	8	14	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr7:20198241G>A	uc003sus.3	-	5	2052	c.1743C>T	c.(1741-1743)CTC>CTT	p.L581L	MACC1_uc010kug.2_Silent_p.L581L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	581	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						TACCTTCCCCGAGGAGAGCTA	0.418													A	20198241	G	A	20198241	2	1	190	1	0	0	0	0	0	0	0	1	9143	1045	37	1		1	MACC1	7	20198241	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08		20198241	138940422	36	102952											
RAMP3	10268	broad.mit.edu	37	chr7	45222946	45222946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgatcgttatacccgtcGttctgactgtcgccatggct	10	13	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr7:45222946G>A	uc003tnb.2	+	3	443	c.382G>A	c.(382-384)GTT>ATT	p.V128I	RAMP3_uc003tnc.2_Missense_Mutation_p.V96I	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	128	Helical; (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)	TATACCCGTCGTTCTGACTGT	0.622													A	45222946	G	A	45222946	3	1	190	1	0	0	0	0	1	0	0	0	13023	1145	40	1	392	1	RAMP3	7	45222946	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	25024705	45222946	113915717	37	102953											
TMEM130	222865	broad.mit.edu	37	chr7	98460898	98460898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggatccagtggaagcGgtagaggtgggcgtcagcgg	21	6	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr7:98460898G>A	uc003upo.2	-	2	400	c.211C>T	c.(211-213)CGC>TGC	p.R71C	TMEM130_uc011kiq.1_Missense_Mutation_p.R52C|TMEM130_uc011kir.1_Missense_Mutation_p.R71C|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	71	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	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)			CAGTGGAAGCGGTAGAGGTGG	0.667													A	98460898	G	A	98460898	3	1	190	1	0	0	0	0	1	0	0	0	16040	1116	39	1	1124	1	TMEM130	7	98460898	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	53237952	98460898	60677765	38	102954											
ADAM18	8749	broad.mit.edu	37	chr8	39587447	39587447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtatcagaaagcgatgaCgtgggacattaatattgcac	11	6	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr8:39587447C>T	uc003xni.2	+	20	2208	c.2208C>T	c.(2206-2208)GAC>GAT	p.D736D	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.D712D	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	736	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		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)			AAAGCGATGACGTGGGACATT	0.323													T	39587447	C	T	39587447	2	4	190	1	0	0	0	0	0	0	0	1	239	535	19	1		1	ADAM18	8	39587447	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08		39587447	106776575	39	102955											
RIMS2	9699	broad.mit.edu	37	chr8	104898187	104898187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaggcgtactgactcaCtacggaaacagcaccactta	8	12	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr8:104898187C>T	uc003yls.2	+	2	935	c.694C>T	c.(694-696)CTA>TTA	p.L232L	RIMS2_uc003ylp.2_Silent_p.L454L|RIMS2_uc003ylw.2_Silent_p.L262L|RIMS2_uc003ylq.2_Silent_p.L262L|RIMS2_uc003ylr.2_Silent_p.L262L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	485					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACTGACTCACTACGGAAACA	0.448										HNSCC(12;0.0054)			T	104898187	C	T	104898187	2	4	190	1	0	0	0	0	0	0	0	1	13368	564	20	4		4	RIMS2	8	104898187	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	65310740	104898187	41465835	40	102956											
RNF139	11236	broad.mit.edu	37	chr8	125499249	125499249	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatggctactataatgtcctCtgggaaaagcttgacgatta	10	7	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr8:125499249C>T	uc003yrc.2	+	2	1702	c.1359C>T	c.(1357-1359)CTC>CTT	p.L453L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	453					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATAATGTCCTCTGGGAAAAGC	0.353									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				T	125499249	C	T	125499249	2	4	190	1	0	0	0	0	0	0	0	1	13442	900	32	4		4	RNF139	8	125499249	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	20601062	125499249	20864773	41	102957											
KIAA1432	57589	broad.mit.edu	37	chr9	5772699	5772699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcacatttccatggAgttggccagtaaagggcctc	13	10	0	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr9:5772699A>G	uc003zji.2	+	23	3608	c.3515A>G	c.(3514-3516)GAG>GGG	p.E1172G	KIAA1432_uc003zjl.3_Missense_Mutation_p.E1135G|ERMP1_uc011lme.1_Intron	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1251						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATTTCCATGGAGTTGGCCAGT	0.453													G	5772699	A	G	5772699	3	3	190	1	0	0	0	0	1	0	0	0	8233	304	11	3	3679	3	KIAA1432	9	5772699	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08		5772699	135440732	42	102958											
KIAA1797	54914	broad.mit.edu	37	chr9	20952989	20952989	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtctccacagttcctActgactatagctacttgcct	5	13	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr9:20952989A>G	uc003zog.1	+	37	4420	c.4057A>G	c.(4057-4059)ACT>GCT	p.T1353A	KIAA1797_uc003zoh.1_Missense_Mutation_p.T789A	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1353						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CACAGTTCCTACTGACTATAG	0.393													G	20952989	A	G	20952989	3	3	190	1	0	0	0	0	1	0	0	0	8258	391	14	3	4191	3	KIAA1797	9	20952989	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08	15180290	20952989	120260442	43	102959											
C9orf103	414328	broad.mit.edu	37	chr9	86258434	86258434	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacaaggaaaagatggtgtAgctctgaagtgtgaggagtc	14	5	1	3			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr9:86258434A>C	uc004amu.1	+	5	317	c.303A>C	c.(301-303)GTA>GTC	p.V101V	C9orf103_uc004amt.1_Silent_p.V55V|C9orf103_uc010mpv.1_Silent_p.V55V	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN	gluconokinase-like protein	101					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity				0						AAGATGGTGTAGCTCTGAAGT	0.507													C	86258434	A	C	86258434	2	2	190	1	0	0	0	0	0	0	0	1	2446	407	15	5		5	C9orf103	9	86258434	Silent	SNP	A	TCGA-CG-5722-01A-21D-1600-08	65305445	86258434	54954997	44	102960											
FAM78A	286336	broad.mit.edu	37	chr9	134151258	134151258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacatgccctgctcgccGtactggttgtagaactccat	8	14	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr9:134151258G>A	uc004cak.2	-	1	649	c.309C>T	c.(307-309)TAC>TAT	p.Y103Y		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	103										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CCTGCTCGCCGTACTGGTTGT	0.652													A	134151258	G	A	134151258	2	1	190	1	0	0	0	0	0	0	0	1	5626	1140	40	1		1	FAM78A	9	134151258	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	47892824	134151258	7062173	45	102961											
CCNY	219771	broad.mit.edu	37	chr10	35772377	35772377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatcatcctcgggccagcaCaatattcctcagtaaatctc	6	13	3	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr10:35772377C>A	uc001iyw.3	+	2	380	c.200C>A	c.(199-201)ACA>AAA	p.T67K	CCNY_uc001iyu.3_Missense_Mutation_p.T13K|CCNY_uc001iyv.3_Missense_Mutation_p.T13K|CCNY_uc001iyx.3_Missense_Mutation_p.T13K|CCNY_uc009xmb.2_Intron|CCNY_uc010qet.1_5'UTR	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	67					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				0						CGGGCCAGCACAATATTCCTC	0.358													A	35772377	C	A	35772377	3	1	190	1	0	0	0	0	1	0	0	0	2936	478	17	5	206	5	CCNY	10	35772377	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		35772377	99762370	46	102962											
GJD4	219770	broad.mit.edu	37	chr10	35896709	35896709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgtcctcctcccctccGccgtcttcagcgtctatgtc	8	18	3	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr10:35896709G>A	uc001iyy.1	+	2	426	c.268G>A	c.(268-270)GCC>ACC	p.A90T		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	90	Helical; (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CCTCCCCTCCGCCGTCTTCAG	0.711													A	35896709	G	A	35896709	3	1	190	1	0	0	0	0	1	0	0	0	6419	1087	38	1	274	1	GJD4	10	35896709	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	124332	35896709	99638038	47	102963											
OR51T1	401665	broad.mit.edu	37	chr11	4904053	4904053	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggctatgttccagctGctccaatccaagggttcatg	10	13	1	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr11:4904053G>T	uc010qyp.1	+	1	1005	c.1005G>T	c.(1003-1005)CTG>CTT	p.L335L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		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)		TGTTCCAGCTGCTCCAATCCA	0.458													T	4904053	G	T	4904053	2	4	190	1	0	0	0	0	0	0	0	1	11106	1306	46	5		5	OR51T1	11	4904053	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08		4904053	130102463	48	102964											
OR4D10	390197	broad.mit.edu	37	chr11	59245145	59245145	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcacagtgcccaaggtTctggtggaccttctgtctga	10	12	4	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr11:59245145T>C	uc001nnz.1	+	1	243	c.243T>C	c.(241-243)GTT>GTC	p.V81V		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	81	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TGCCCAAGGTTCTGGTGGACC	0.433													C	59245145	T	C	59245145	2	2	190	1	0	0	0	0	0	0	0	1	11054	1770	62	3		3	OR4D10	11	59245145	Silent	SNP	T	TCGA-CG-5722-01A-21D-1600-08	54341092	59245145	75761371	49	102965											
OVOL1	5017	broad.mit.edu	37	chr11	65561652	65561652	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggtggcccagctgccctCtgaagacatgggccacttga	13	12	1	3			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr11:65561652C>T	uc001ofp.2	+	2	567	c.251C>T	c.(250-252)TCT>TTT	p.S84F	OVOL1_uc001ofq.2_Missense_Mutation_p.S22F	NM_004561	NP_004552	O14753	OVOL1_HUMAN	OVO-like 1 binding protein	84					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.17)		CAGCTGCCCTCTGAAGACATG	0.637													T	65561652	C	T	65561652	3	4	190	1	0	0	0	0	1	0	0	0	11326	913	32	4	257	4	OVOL1	11	65561652	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	6316507	65561652	69444864	50	102966											
ROBO4	54538	broad.mit.edu	37	chr11	124766118	124766118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaaacccgggctgcgcGgctctccctatgtcctgcgc	13	15	1	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr11:124766118G>A	uc001qbg.2	-	4	795	c.655C>T	c.(655-657)CGC>TGC	p.R219C	ROBO4_uc010sas.1_Missense_Mutation_p.R74C|ROBO4_uc001qbh.2_Missense_Mutation_p.R109C|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	219	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGGCTGCGCGGCTCTCCCTA	0.617													A	124766118	G	A	124766118	3	1	190	1	0	0	0	0	1	0	0	0	13516	1116	39	1	2428	1	ROBO4	11	124766118	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	59204466	124766118	10240398	51	102967											
AKAP3	10566	broad.mit.edu	37	chr12	4736611	4736611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtctgatgcaggcttaCgctgtgtgttgggagcttca	13	7	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr12:4736611C>T	uc001qnb.3	-	4	1686	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	486					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						TGCAGGCTTACGCTGTGTGTT	0.428													T	4736611	C	T	4736611	3	4	190	1	0	0	0	0	1	0	0	0	452	536	19	1	1112	1	AKAP3	12	4736611	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		4736611	129115284	52	102968											
APOBEC1	339	broad.mit.edu	37	chr12	7805130	7805130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaaaaaagccgagctaCgtagatcactagagtcacac	9	11	2	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr12:7805130C>T	uc001qtb.2	-	3	380	c.346G>A	c.(346-348)GTA>ATA	p.V116I	APOBEC1_uc001qtc.2_Missense_Mutation_p.V71I|APOBEC1_uc010sgf.1_Missense_Mutation_p.V116I	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	116					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						AGCCGAGCTACGTAGATCACT	0.488													T	7805130	C	T	7805130	3	4	190	1	0	0	0	0	1	0	0	0	787	536	19	1	376	1	APOBEC1	12	7805130	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	3068519	7805130	126046765	53	102969											
BAZ2A	11176	broad.mit.edu	37	chr12	57005736	57005736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgggacttctaaggagactGctgggaggactgctgaggaa	16	7	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr12:57005736G>T	uc001slq.1	-	6	1630	c.1436C>A	c.(1435-1437)GCA>GAA	p.A479E	BAZ2A_uc001slp.1_Missense_Mutation_p.A477E|BAZ2A_uc009zow.1_Missense_Mutation_p.A447E	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	479					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				0						TAAGGAGACTGCTGGGAGGAC	0.547													T	57005736	G	T	57005736	3	4	190	1	0	0	0	0	1	0	0	0	1331	1319	46	5	4377	5	BAZ2A	12	57005736	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	49200606	57005736	76846159	54	102970											
RASSF3	283349	broad.mit.edu	37	chr12	65085273	65085273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctgcaagctctcagacCgggaacatccactctacctg	8	16	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr12:65085273C>T	uc001ssd.2	+	4	601	c.481C>T	c.(481-483)CGG>TGG	p.R161W	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.R91W	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	161	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCTCTCAGACCGGGAACATCC	0.478													T	65085273	C	T	65085273	3	4	190	1	0	0	0	0	1	0	0	0	13087	643	23	1	495	1	RASSF3	12	65085273	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	8079537	65085273	68766622	55	102971											
NBEA	26960	broad.mit.edu	37	chr13	36046612	36046612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggactctctccatcaccaCgacagaaatctacttcgagg	9	13	3	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr13:36046612C>T	uc001uvb.2	+	41	6730	c.6524C>T	c.(6523-6525)ACG>ATG	p.T2175M	NBEA_uc010abi.2_Missense_Mutation_p.T831M|NBEA_uc010tee.1_Translation_Start_Site	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2175						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TCCATCACCACGACAGAAATC	0.532													T	36046612	C	T	36046612	3	4	190	1	0	0	0	0	1	0	0	0	10187	536	19	1	6686	1	NBEA	13	36046612	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		36046612	79123266	56	102972											
SYNE2	23224	broad.mit.edu	37	chr14	64449413	64449413	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttaaatgaagcaggaaatttCttagtcgaagtcagcaatga	9	5	2	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr14:64449413C>G	uc001xgm.2	+	17	2132	c.1902C>G	c.(1900-1902)TTC>TTG	p.F634L	SYNE2_uc001xgl.2_Missense_Mutation_p.F634L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	634	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGAAATTTCTTAGTCGAAG	0.378													G	64449413	C	G	64449413	3	3	190	1	0	0	0	0	1	0	0	0	15443	912	32	5	1964	5	SYNE2	14	64449413	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		64449413	42900127	57	102973											
SIPA1L1	26037	broad.mit.edu	37	chr14	72139105	72139105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcggtggagatgactctgcGaagaaatgggctaggacagc	15	7	1	3			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr14:72139105G>A	uc001xms.2	+	9	3218	c.2870G>A	c.(2869-2871)CGA>CAA	p.R957Q	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R957Q|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R957Q|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R957Q|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R432Q	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	957					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGACTCTGCGAAGAAATGGG	0.483													A	72139105	G	A	72139105	3	1	190	1	0	0	0	0	1	0	0	0	14329	1058	37	1	2900	1	SIPA1L1	14	72139105	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	7689692	72139105	35210435	58	102974											
SLC12A6	9990	broad.mit.edu	37	chr15	34528245	34528245	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcaggtcctggaatccTtccattgacttcgctttttg	8	10	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr15:34528245T>C	uc001zhw.2	-	23	3362	c.3198A>G	c.(3196-3198)GAA>GAG	p.E1066E	SLC12A6_uc001zhv.2_Silent_p.E1015E|SLC12A6_uc001zhx.2_Silent_p.E1051E|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.E1007E|SLC12A6_uc001zib.2_Silent_p.E1057E|SLC12A6_uc001zic.2_Silent_p.E1066E|SLC12A6_uc010bau.2_Silent_p.E1066E|SLC12A6_uc001zid.2_Silent_p.E1007E|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.E878E	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	1066	Cytoplasmic (Potential).				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)|ovary(1)|skin(1)	7		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)	CCTGGAATCCTTCCATTGACT	0.453													C	34528245	T	C	34528245	2	2	190	1	0	0	0	0	0	0	0	1	14387	1606	56	3		3	SLC12A6	15	34528245	Silent	SNP	T	TCGA-CG-5722-01A-21D-1600-08		34528245	68003147	59	102975											
NOP10	55505	broad.mit.edu	37	chr15	34634268	34634268	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggggagaaccgagcAggatgggctgagcaggtctg	17	8	3	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr15:34634268A>G	uc001zie.1	-	2	184	c.96T>C	c.(94-96)CCT>CCC	p.P32P	C15orf55_uc010ucc.1_5'Flank|C15orf55_uc010ucd.1_5'Flank	NM_018648	NP_061118	Q9NPE3	NOP10_HUMAN	nucleolar protein family A, member 3	32					pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding				0						AGAACCGAGCAGGATGGGCTG	0.537													G	34634268	A	G	34634268	2	3	190	1	0	0	0	0	0	0	0	1	10535	175	7	3		3	NOP10	15	34634268	Silent	SNP	A	TCGA-CG-5722-01A-21D-1600-08	106023	34634268	67897124	60	102976											
GJD2	57369	broad.mit.edu	37	chr15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaacttcttatcttctcGtttgcccccaccactgcccc	4	18	3	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr15:35045227G>A	uc001zis.1	-	2	418	c.418C>T	c.(418-420)CGA>TGA	p.R140*	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	140	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		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)		TTATCTTCTCGTTTGCCCCCA	0.532													A	35045227	G	A	35045227	4	1	190	1	0	0	0	0	0	1	0	0	6417	1153	40	1	551	1	GJD2	15	35045227	Nonsense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	410959	35045227	67486165	61	102977											
MYO9A	4649	broad.mit.edu	37	chr15	72227776	72227776	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgccacttgatagtcTgctctggcgaatcccagttc	12	11	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr15:72227776T>A	uc002atl.3	-	17	2901	c.2428A>T	c.(2428-2430)AGA>TGA	p.R810*	MYO9A_uc010biq.2_Nonsense_Mutation_p.R430*|MYO9A_uc002atn.1_Nonsense_Mutation_p.R791*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	810					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			ovary(1)|pancreas(1)|skin(1)	3						CTTGATAGTCTGCTCTGGCGA	0.398													A	72227776	T	A	72227776	4	1	190	1	0	0	0	0	0	1	0	0	10084	1588	55	5	5322	5	MYO9A	15	72227776	Nonsense_Mutation	SNP	T	TCGA-CG-5722-01A-21D-1600-08	37182549	72227776	30303616	62	102978											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84690187	84690187	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggagcctggtaactgGtcacattgttctgccacctg	11	10	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr15:84690187G>A	uc002bjz.3	+	26	4523	c.4299G>A	c.(4297-4299)TGG>TGA	p.W1433*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W1433*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.W1433*	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1433	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGGTAACTGGTCACATTGTT	0.512													A	84690187	G	A	84690187	4	1	190	1	0	0	0	0	0	1	0	0	276	1270	44	4	4397	4	ADAMTSL3	15	84690187	Nonsense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	12462411	84690187	17841205	63	102979											
CHTF18	63922	broad.mit.edu	37	chr16	844151	844151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcacagcgattctacCgtgtcctgcatgccgctgcc	9	18	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr16:844151C>T	uc002cke.3	+	15	1963	c.1900C>T	c.(1900-1902)CGT>TGT	p.R634C	CHTF18_uc002ckf.3_Missense_Mutation_p.R662C|CHTF18_uc010brf.2_Missense_Mutation_p.R216C|CHTF18_uc002ckg.3_Missense_Mutation_p.R152C	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	634					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				GCGATTCTACCGTGTCCTGCA	0.682													T	844151	C	T	844151	3	4	190	1	0	0	0	0	1	0	0	0	3414	652	23	1	1958	1	CHTF18	16	844151	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		844151	89510602	64	102980											
FLYWCH2	114984	broad.mit.edu	37	chr16	2946611	2946611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaagacagcaccaaggTggcgggggccaagcgcaagg	15	12	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr16:2946611T>G	uc002csa.2	+	3	532	c.161T>G	c.(160-162)GTG>GGG	p.V54G	FLYWCH2_uc010uwj.1_Missense_Mutation_p.V54G|FLYWCH2_uc010uwk.1_Missense_Mutation_p.V54G	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	54											0						AGCACCAAGGTGGCGGGGGCC	0.667													G	2946611	T	G	2946611	3	3	190	1	0	0	0	0	1	0	0	0	5948	1696	59	5	163	5	FLYWCH2	16	2946611	Missense_Mutation	SNP	T	TCGA-CG-5722-01A-21D-1600-08	2102460	2946611	87408142	65	102981											
GRIN2A	2903	broad.mit.edu	37	chr16	10274134	10274134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagttcgcgctctgtcacGtcgtggctgtgacccagcat	12	13	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr16:10274134G>A	uc002czo.3	-	2	683	c.135C>T	c.(133-135)GAC>GAT	p.D45D	GRIN2A_uc010uym.1_Silent_p.D45D|GRIN2A_uc002czr.3_Silent_p.D45D|GRIN2A_uc010buk.2_Silent_p.D45D	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	45	Extracellular (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTCTGTCACGTCGTGGCTGT	0.692													A	10274134	G	A	10274134	2	1	190	1	0	0	0	0	0	0	0	1	6779	1136	40	1		1	GRIN2A	16	10274134	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	7327523	10274134	80080619	66	102982											
NOD2	64127	broad.mit.edu	37	chr16	50750497	50750497	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtatttattttgtctctttaGtttgcgcgataacaatatct	6	6	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr16:50750497G>C	uc002egm.1	+	5	2568	c.2463_splice	c.e5-1	p.Y821_splice	NOD2_uc010cbl.1_Splice_Site_p.Y599_splice|NOD2_uc010cbm.1_Splice_Site_p.Y599_splice|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_Splice_Site|NOD2_uc010cbr.1_Intron	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain						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			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				TGTCTCTTTAGTTTGCGCGAT	0.413													C	50750497	G	C	50750497	5	2	190	1	0	0	0	0	0	0	1	0	10517	1043	36	5	2480	5	NOD2	16	50750497	Splice_Site	SNP	G	TCGA-CG-5722-01A-21D-1600-08	40476363	50750497	39604256	67	102983											
IRX5	10265	broad.mit.edu	37	chr16	54967637	54967637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccccacaaccggtcCggggtctcatttcaatggat	11	14	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr16:54967637C>T	uc002ehv.2	+	3	1304	c.1304C>T	c.(1303-1305)CCG>CTG	p.P435L	IRX5_uc002ehw.2_Missense_Mutation_p.P369L	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	435					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						ACAACCGGTCCGGGGTCTCAT	0.592													T	54967637	C	T	54967637	3	4	190	1	0	0	0	0	1	0	0	0	7847	652	23	1	1314	1	IRX5	16	54967637	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	4217140	54967637	35387116	68	102984											
CAMTA2	23125	broad.mit.edu	37	chr17	4875783	4875783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagaataggctgacgtgacgGaaaaggtgccatccgacagc	13	9	0	3			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:4875783G>A	uc002gah.1	-	16	2660	c.2552C>T	c.(2551-2553)TCC>TTC	p.S851F	CAMTA2_uc010cku.1_Missense_Mutation_p.S874F|CAMTA2_uc002gag.1_Missense_Mutation_p.S850F|CAMTA2_uc002gai.1_Missense_Mutation_p.S853F|CAMTA2_uc010ckv.1_Missense_Mutation_p.S498F	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	851					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						TGACGTGACGGAAAAGGTGCC	0.642													A	4875783	G	A	4875783	3	1	190	1	0	0	0	0	1	0	0	0	2614	1174	41	4	1138	4	CAMTA2	17	4875783	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08		4875783	76319427	69	102985											
DLG4	1742	broad.mit.edu	37	chr17	7106879	7106879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcacctcgcgcacgtcCacttcatttacaaacaggat	8	13	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:7106879C>T	uc002get.3	-	8	1699	c.498G>A	c.(496-498)GTG>GTA	p.V166V	DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.V63V|DLG4_uc010cly.2_Silent_p.V120V|DLG4_uc010vto.1_Silent_p.V163V|DLG4_uc002geu.2_Silent_p.V120V	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	123	PDZ 1.				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			ovary(1)|breast(1)	2						CGCGCACGTCCACTTCATTTA	0.632													T	7106879	C	T	7106879	2	4	190	1	0	0	0	0	0	0	0	1	4557	581	21	4		4	DLG4	17	7106879	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	2231096	7106879	74088331	70	102986											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216418	8216418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcatcggtcaccctgcCgttgtcctcacatcctaccg	7	18	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:8216418C>T	uc002glc.2	+	3	901	c.780C>T	c.(778-780)GCC>GCT	p.A260A	ARHGEF15_uc002glb.1_3'UTR|ARHGEF15_uc002gld.2_Silent_p.A260A|ARHGEF15_uc010vuw.1_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	260					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GTCACCCTGCCGTTGTCCTCA	0.657													T	8216418	C	T	8216418	2	4	190	1	0	0	0	0	0	0	0	1	898	639	23	1		1	ARHGEF15	17	8216418	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	1109539	8216418	72978792	71	102987											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219149	8219149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtggtgcatgcccacGctgtggggcctttctcggtg	16	10	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:8219149G>A	uc002glc.2	+	8	1619	c.1498G>A	c.(1498-1500)GCT>ACT	p.A500T	ARHGEF15_uc002gld.2_Missense_Mutation_p.A500T|ARHGEF15_uc010vuw.1_Missense_Mutation_p.A389T	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	500	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GCATGCCCACGCTGTGGGGCC	0.582													A	8219149	G	A	8219149	3	1	190	1	0	0	0	0	1	0	0	0	898	1087	38	1	1524	1	ARHGEF15	17	8219149	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	2731	8219149	72976061	72	102988											
MYH10	4628	broad.mit.edu	37	chr17	8380351	8380351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaagctgcttcatccgagCgttggccttctccatcttgg	9	12	3	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:8380351C>T	uc002gll.2	-	40	5725	c.5629G>A	c.(5629-5631)GCT>ACT	p.A1877T	MYH10_uc002glm.2_Missense_Mutation_p.A1908T|MYH10_uc010cnx.2_Missense_Mutation_p.A1886T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1877	Potential.				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			ovary(2)	2						TTCATCCGAGCGTTGGCCTTC	0.567													T	8380351	C	T	8380351	3	4	190	1	0	0	0	0	1	0	0	0	10030	768	27	1	309	1	MYH10	17	8380351	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	161202	8380351	72814859	73	102989											
ALKBH5	54890	broad.mit.edu	37	chr17	18110185	18110185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcagctccgtgttacCacccagctatgcttcagatc	8	15	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:18110185C>T	uc010cpw.2	+	3	1599	c.908C>T	c.(907-909)CCA>CTA	p.P303L	ALKBH5_uc010cpx.2_RNA	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5	303						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_neural(463;0.228)					TCCGTGTTACCACCCAGCTAT	0.572													T	18110185	C	T	18110185	3	4	190	1	0	0	0	0	1	0	0	0	530	594	21	4	918	4	ALKBH5	17	18110185	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	9729834	18110185	63085025	74	102990											
PIGS	94005	broad.mit.edu	37	chr17	26890883	26890883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcatggtccaaagccCtccgataggccttctggaaa	8	15	2	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:26890883C>T	uc002hbo.2	-	4	702	c.329G>A	c.(328-330)AGG>AAG	p.R110K	PIGS_uc002hbn.2_Missense_Mutation_p.R102K|PIGS_uc010wap.1_Missense_Mutation_p.R49K	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	110	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					GTCCAAAGCCCTCCGATAGGC	0.498													T	26890883	C	T	26890883	3	4	190	1	0	0	0	0	1	0	0	0	11898	681	24	4	1374	4	PIGS	17	26890883	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	8780698	26890883	54304327	75	102991											
NF1	4763	broad.mit.edu	37	chr17	29556080	29556085	+	In_Frame_Del	DEL	GAATGT	GAATGT	-													caagaccattgttaagaggcGaatgtcccatgtgagtggag							TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:29556079_29556084CGAATGT>C	uc002hgg.3	+	20	2829_2834	c.2446_2451CGAATGT>C	c.(2446-2451)cgaatg>C	p.RM816del	NF1_uc002hgh.3_In_Frame_Del_p.RM816del|NF1_uc010csn.2_In_Frame_Del_p.RM676del|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	816					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	p.R816*(8)|p.0?(8)|p.?(4)|p.R815fs*6(1)|p.S818fs*13(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)		TGTTAAGAGGCGAATGTCCCATGTGA	0.427			"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)			-	29556085	GAATGT	-	29556080	7	5	190	1	0	1	0	1	0	0	0	0	10356	1058	37	0	2590	0	NF1	17	29556080	In_Frame_Del	DEL	GAATGT	TCGA-CG-5722-01A-21D-1600-08	2665197	29556080	51639130	76	102992											
LRRC37B	114659	broad.mit.edu	37	chr17	30349784	30349784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtctcagcccaaagcAgaggctccgccaagtgcctg	12	13	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:30349784A>G	uc002hgu.2	+	1	1630	c.1619A>G	c.(1618-1620)CAG>CGG	p.Q540R	LRRC37B_uc010wbx.1_Missense_Mutation_p.Q458R|LRRC37B_uc010csu.2_Missense_Mutation_p.Q540R	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	540	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCCCAAAGCAGAGGCTCCGC	0.537													G	30349784	A	G	30349784	3	3	190	1	0	0	0	0	1	0	0	0	8994	188	7	3	1621	3	LRRC37B	17	30349784	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08	793704	30349784	50845426	77	102993											
TUBD1	51174	broad.mit.edu	37	chr17	57968199	57968201	+	In_Frame_Del	DEL	CTC	CTC	-													gggccacacctacctccattCtcctcctcactgaagaatct							TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:57968198_57968200TCTC>T	uc002ixw.2	-	1	452_454	c.164_166GAGA>A	c.(163-168)gagaat>gAat	p.N56del	TUBD1_uc010wok.2_In_Frame_Del_p.N56del|TUBD1_uc010ddf.2_In_Frame_Del_p.N56del|TUBD1_uc010wol.2_Intron|TUBD1_uc010ddg.2_In_Frame_Del_p.N21del|TUBD1_uc010ddi.2_In_Frame_Del_p.N56del|TUBD1_uc010ddh.2_5'UTR|TUBD1_uc002ixx.2_In_Frame_Del_p.N56del|RPS6KB1_uc010ddj.2_5'Flank|RPS6KB1_uc002ixy.3_5'Flank|RPS6KB1_uc010wom.2_5'Flank|RPS6KB1_uc010won.2_5'Flank	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	56					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)			CTACCTCCATTCTCCTCCTCACT	0.483													-	57968201	CTC	-	57968199	7	5	190	1	0	1	0	1	0	0	0	0	16759	912	32	0	1228	0	TUBD1	17	57968199	In_Frame_Del	DEL	CTC	TCGA-CG-5722-01A-21D-1600-08	27618415	57968199	23227011	78	102994											
ACE	1636	broad.mit.edu	37	chr17	61568741	61568741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacaacggcaaggacttcCggtacatccagctagggctc	10	13	1	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr17:61568741C>T	uc002jau.1	+	19	2933	c.2911C>T	c.(2911-2913)CGG>TGG	p.R971W	ACE_uc002jav.1_Missense_Mutation_p.R397W|ACE_uc010ddv.1_Missense_Mutation_p.R198W|ACE_uc010wpj.1_Missense_Mutation_p.R397W|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.R217W	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	971	Extracellular (Potential).|Peptidase M2 2.				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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	CAAGGACTTCCGGTACATCCA	0.607													T	61568741	C	T	61568741	3	4	190	1	0	0	0	0	1	0	0	0	136	666	23	1	3188	1	ACE	17	61568741	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	3600542	61568741	19626469	79	102995											
ZFP161	7541	broad.mit.edu	37	chr18	5291265	5291265	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaggtgggcctgtgtggtGaaaccttttgtgcacatttc	12	8	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr18:5291265G>A	uc002kmq.2	-	4	1103	c.942C>T	c.(940-942)TTC>TTT	p.F314F	ZFP161_uc002kmr.2_Silent_p.F314F|ZFP161_uc010dkp.2_Silent_p.F314F	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	314	C2H2-type 2.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTGTGTGGTGAAACCTTTTG	0.473													A	5291265	G	A	5291265	2	1	190	1	0	0	0	0	0	0	0	1	17637	1281	45	4		4	ZFP161	18	5291265	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08		5291265	72785983	80	102996											
NFATC1	4772	broad.mit.edu	37	chr18	77246792	77246792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcccgcagcacctgccGtccacggtccgcagggacga	14	18	0	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr18:77246792G>A	uc010xfg.1	+	9	3090	c.2637G>A	c.(2635-2637)CCG>CCA	p.P879P	NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P407P|NFATC1_uc002lnf.2_Silent_p.P866P|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	879	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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCACCTGCCGTCCACGGTCC	0.706													A	77246792	G	A	77246792	2	1	190	1	0	0	0	0	0	0	0	1	10361	1132	40	1		1	NFATC1	18	77246792	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	71955527	77246792	830456	81	102997											
FEM1A	55527	broad.mit.edu	37	chr19	4793005	4793005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgttgatccgggagcGcatcctcggtccctcgcacc	12	17	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:4793005G>A	uc002mbf.2	+	1	1278	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	380					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		ATCCGGGAGCGCATCCTCGGT	0.617													A	4793005	G	A	4793005	3	1	190	1	0	0	0	0	1	0	0	0	5809	1087	38	1	1141	1	FEM1A	19	4793005	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08		4793005	54335978	82	102998											
ZNRF4	148066	broad.mit.edu	37	chr19	5456204	5456204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacaagtcggcccacgcGctgctcctgcccgacgaccc	10	19	0	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:5456204G>A	uc002mca.3	+	1	779	c.702G>A	c.(700-702)GCG>GCA	p.A234A		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	234	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGGCCCACGCGCTGCTCCTGC	0.682													A	5456204	G	A	5456204	2	1	190	1	0	0	0	0	0	0	0	1	18211	1074	38	1		1	ZNRF4	19	5456204	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	663199	5456204	53672779	83	102999											
PRAM1	84106	broad.mit.edu	37	chr19	8564247	8564247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcaaaggggcctcacCgacctcaggctgcaggggct	14	14	3	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:8564247C>T	uc002mkd.2	-	2	465	c.445G>A	c.(445-447)GGT>AGT	p.G149S	PRAM1_uc002mkc.2_Missense_Mutation_p.G149S	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	197	Pro-rich.						lipid binding|protein binding				0						GGGGCCTCACCGACCTCAGGC	0.662													T	8564247	C	T	8564247	3	4	190	1	0	0	0	0	1	0	0	0	12423	652	23	1	1600	1	PRAM1	19	8564247	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	3108043	8564247	50564736	84	103000											
ZNF177	7730	broad.mit.edu	37	chr19	9492250	9492250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttaccttattgtgcacAagagaactcacactggtgag	9	10	2	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:9492250A>G	uc002mli.2	+	12	1426	c.763A>G	c.(763-765)AAG>GAG	p.K255E	ZNF177_uc002mlj.2_Missense_Mutation_p.K205E|ZNF177_uc002mlk.2_Missense_Mutation_p.K255E	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	255	C2H2-type 5.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TATTGTGCACAAGAGAACTCA	0.468													G	9492250	A	G	9492250	3	3	190	1	0	0	0	0	1	0	0	0	17743	131	5	3	1261	3	ZNF177	19	9492250	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08	928003	9492250	49636733	85	103001											
CYP4F2	8529	broad.mit.edu	37	chr19	15989736	15989736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcgcgaacgtctgccCgatgcagttcctaggggagg	14	13	1	0	rs146148233		TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:15989736C>T	uc002nbs.1	-	13	1458	c.1408G>A	c.(1408-1410)GGG>AGG	p.G470R	CYP4F2_uc010xot.1_Missense_Mutation_p.G321R	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	470					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			ovary(1)|skin(1)	2						AACGTCTGCCCGATGCAGTTC	0.672													T	15989736	C	T	15989736	3	4	190	1	0	0	0	0	1	0	0	0	4188	652	23	1	158	1	CYP4F2	19	15989736	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	6497486	15989736	43139247	86	103002											
TSHZ3	57616	broad.mit.edu	37	chr19	31769496	31769496	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgaccatcatgtgggcagtGagctcctgcagggtgtcatg	15	9	2	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:31769496G>A	uc002nsy.3	-	2	1268	c.1203C>T	c.(1201-1203)CTC>CTT	p.L401L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	401	C2H2-type 3; atypical.				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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TGTGGGCAGTGAGCTCCTGCA	0.557													A	31769496	G	A	31769496	2	1	190	1	0	0	0	0	0	0	0	1	16622	1277	45	4		4	TSHZ3	19	31769496	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	15779760	31769496	27359487	87	103003											
ZNF529	57711	broad.mit.edu	37	chr19	37039085	37039085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagtcaatcttgcttttGctttgccagtcatttctgaa	7	8	4	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:37039085G>T	uc002oeh.3	-	5	577	c.375C>A	c.(373-375)AGC>AGA	p.S125R	ZNF529_uc010xth.1_Missense_Mutation_p.S125R|ZNF529_uc010xti.1_Missense_Mutation_p.S107R|ZNF529_uc002oeg.3_Missense_Mutation_p.S20R	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TCTTGCTTTTGCTTTGCCAGT	0.373													T	37039085	G	T	37039085	3	4	190	1	0	0	0	0	1	0	0	0	17967	1310	46	5	1320	5	ZNF529	19	37039085	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	5269589	37039085	22089898	88	103004											
ZNF229	7772	broad.mit.edu	37	chr19	44933774	44933774	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccagtgtggaccctctgatgGacaagcaggtttgaacttcg	12	10	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:44933774G>C	uc002oze.1	-	6	1616	c.1182C>G	c.(1180-1182)GTC>GTG	p.V394V	ZNF229_uc010ejk.1_Silent_p.V48V|ZNF229_uc010ejl.1_Silent_p.V388V	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	394	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				CCCTCTGATGGACAAGCAGGT	0.488													C	44933774	G	C	44933774	2	2	190	1	0	0	0	0	0	0	0	1	17779	1161	41	5		5	ZNF229	19	44933774	Silent	SNP	G	TCGA-CG-5722-01A-21D-1600-08	7894689	44933774	14195209	89	103005											
KLK1	3816	broad.mit.edu	37	chr19	51322566	51322566	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccatgatgtgacaccttGgagcacaccatcacacatca	7	15	2	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:51322566G>A	uc002ptk.1	-	5	712	c.673C>T	c.(673-675)CAA>TAA	p.Q225*	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	225	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGACACCTTGGAGCACACCA	0.582													A	51322566	G	A	51322566	4	1	190	1	0	0	0	0	0	1	0	0	8397	1357	47	4	119	4	KLK1	19	51322566	Nonsense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	6388792	51322566	7806417	90	103006											
C19orf18	147685	broad.mit.edu	37	chr19	58472857	58472857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcatctcctaataacGgtatcctgaggttcttataa	5	10	4	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr19:58472857G>A	uc002qqv.2	-	5	538	c.434C>T	c.(433-435)CCG>CTG	p.P145L		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	145	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		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;0.017)		TCCTAATAACGGTATCCTGAG	0.453													A	58472857	G	A	58472857	3	1	190	1	0	0	0	0	1	0	0	0	1910	1116	39	1	221	1	C19orf18	19	58472857	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	7150291	58472857	656126	91	103007											
TOMM34	10953	broad.mit.edu	37	chr20	43572151	43572151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcacgttctttccatcCagcttgagggcttctgtgca	9	13	3	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr20:43572151C>T	uc002xmy.2	-	6	908	c.768G>A	c.(766-768)CTG>CTA	p.L256L	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	256	TPR 5.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				TCTTTCCATCCAGCTTGAGGG	0.478													T	43572151	C	T	43572151	2	4	190	1	0	0	0	0	0	0	0	1	16354	581	21	4		4	TOMM34	20	43572151	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08		43572151	19453369	92	103008											
GRIK1	2897	broad.mit.edu	37	chr21	31045467	31045467	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagggagctttgatgagctCttgtagacgaattagaccta	13	6	1	4			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr21:31045467C>G	uc002yno.1	-	4	1026	c.562G>C	c.(562-564)GAG>CAG	p.E188Q	GRIK1_uc002ynn.2_Missense_Mutation_p.E188Q|GRIK1_uc011acs.1_Missense_Mutation_p.E188Q|GRIK1_uc011act.1_Missense_Mutation_p.E132Q|GRIK1_uc010glq.1_Missense_Mutation_p.E46Q|GRIK1_uc002ynr.2_Missense_Mutation_p.E188Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	188	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTGATGAGCTCTTGTAGACGA	0.393													G	31045467	C	G	31045467	3	3	190	1	0	0	0	0	1	0	0	0	6773	922	32	5	2410	5	GRIK1	21	31045467	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		31045467	17084428	93	103009											
TPST2	8459	broad.mit.edu	37	chr22	26937013	26937013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgcaatggtgactttgCgcgtgatcatggagtgcacg	14	10	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr22:26937013C>T	uc003acv.2	-	2	752	c.584G>A	c.(583-585)CGC>CAC	p.R195H	TPST2_uc003acw.2_Missense_Mutation_p.R195H|TPST2_uc003acx.2_Missense_Mutation_p.R195H|TPST2_uc011akf.1_Missense_Mutation_p.R195H	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	195	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						GGTGACTTTGCGCGTGATCAT	0.602													T	26937013	C	T	26937013	3	4	190	1	0	0	0	0	1	0	0	0	16425	768	27	1	565	1	TPST2	22	26937013	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		26937013	24367553	94	103010											
PLXNB2	23654	broad.mit.edu	37	chr22	50715103	50715103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtcctggtcgctgacCtgcaccatctgccggatccc	9	16	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chr22:50715103C>T	uc003bkv.3	-	35	5398	c.5292G>A	c.(5290-5292)CAG>CAA	p.Q1764Q	PLXNB2_uc003bkt.1_Silent_p.Q556Q|PLXNB2_uc003bku.1_Silent_p.Q749Q	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1764	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		GGTCGCTGACCTGCACCATCT	0.622													T	50715103	C	T	50715103	2	4	190	1	0	0	0	0	0	0	0	1	12124	680	24	4		4	PLXNB2	22	50715103	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	23778090	50715103	589463	95	103011											
CXorf23	256643	broad.mit.edu	37	chrX	19973635	19973635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttttcctgccaacagCaaccaaatcatgtgacatct	4	14	3	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:19973635C>T	uc004czp.2	-	4	1324	c.1324G>A	c.(1324-1326)GCT>ACT	p.A442T	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Missense_Mutation_p.A7T|CXorf23_uc004czo.2_Missense_Mutation_p.A392T	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	442						mitochondrion				lung(1)|skin(1)	2						CTGCCAACAGCAACCAAATCA	0.363													T	19973635	C	T	19973635	3	4	190	1	0	0	0	0	1	0	0	0	4103	710	25	2	756	2	CXorf23	23	19973635	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08		19973635	135296925	96	103012											
FAM47B	170062	broad.mit.edu	37	chrX	34961131	34961131	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggacgacttccgctacgcCtgtcagtctcctgaagatac	9	13	2	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:34961131C>A	uc004ddi.1	+	1	201	c.183C>A	c.(181-183)GCC>GCA	p.A61A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	61										ovary(3)|breast(1)	4						TCCGCTACGCCTGTCAGTCTC	0.552													A	34961131	C	A	34961131	2	1	190	1	0	0	0	0	0	0	0	1	5570	668	24	5		5	FAM47B	23	34961131	Silent	SNP	C	TCGA-CG-5722-01A-21D-1600-08	14987496	34961131	120309429	97	103013											
HUWE1	10075	broad.mit.edu	37	chrX	53655786	53655786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtacagtcaataatactgCtgagtttgggagttctctcc	9	9	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:53655786C>A	uc004dsp.2	-	14	1433	c.1031G>T	c.(1030-1032)AGC>ATC	p.S344I		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	344					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AATAATACTGCTGAGTTTGGG	0.393													A	53655786	C	A	53655786	3	1	190	1	0	0	0	0	1	0	0	0	7461	797	28	5	12377	5	HUWE1	23	53655786	Missense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	18694655	53655786	101614774	98	103014											
KIAA2022	340533	broad.mit.edu	37	chrX	73962731	73962731	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacccaacttcaccagcAtgttcttctcacctttaaag	3	15	3	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:73962731A>C	uc004eby.2	-	3	2278	c.1661T>G	c.(1660-1662)ATG>AGG	p.M554R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	554					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CTTCACCAGCATGTTCTTCTC	0.423													C	73962731	A	C	73962731	3	2	190	1	0	0	0	0	1	0	0	0	8269	217	8	5	2897	5	KIAA2022	23	73962731	Missense_Mutation	SNP	A	TCGA-CG-5722-01A-21D-1600-08	20306945	73962731	81307829	99	103015											
CENPI	2491	broad.mit.edu	37	chrX	100417865	100417865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactatttattttcacaggGgttacaaggcttgaaacttt	9	6	1	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:100417865G>A	uc004egx.2	+	21	2450	c.2180G>A	c.(2179-2181)GGG>GAG	p.G727E	CENPI_uc011mrg.1_Missense_Mutation_p.G713E	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	727					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						TTTTCACAGGGGTTACAAGGC	0.343													A	100417865	G	A	100417865	3	1	190	1	0	0	0	0	1	0	0	0	3233	1232	43	4	2258	4	CENPI	23	100417865	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	26455134	100417865	54852695	100	103016											
ZMAT1	84460	broad.mit.edu	37	chrX	101139539	101139539	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgcttttccattgcttgtGaaatattgtatggtgctgcg	10	7	0	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:101139539G>A	uc004eim.2	-	2	3845	c.347C>T	c.(346-348)TCA>TTA	p.S116L	ZMAT1_uc011mrl.1_Missense_Mutation_p.S287L|ZMAT1_uc004ein.2_Missense_Mutation_p.S116L|ZMAT1_uc011mrm.1_Missense_Mutation_p.S116L	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	116						nucleus	zinc ion binding			ovary(1)	1						CATTGCTTGTGAAATATTGTA	0.398													A	101139539	G	A	101139539	3	1	190	1	0	0	0	0	1	0	0	0	17688	1294	45	4	1060	4	ZMAT1	23	101139539	Missense_Mutation	SNP	G	TCGA-CG-5722-01A-21D-1600-08	721674	101139539	54131021	101	103017											
TCEAL5	340543	broad.mit.edu	37	chrX	102529130	102529130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaatcgtccgtccccctgTcggtttttctttttgctttc	9	12	1	0			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:102529130T>G	uc004ejz.1	-	3	657	c.362A>C	c.(361-363)GAC>GCC	p.D121A		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						CGTCCCCCTGTCGGTTTTTCT	0.577													G	102529130	T	G	102529130	3	3	190	1	0	0	0	0	1	0	0	0	15671	1667	58	5	262	5	TCEAL5	23	102529130	Missense_Mutation	SNP	T	TCGA-CG-5722-01A-21D-1600-08	1389591	102529130	52741430	102	103018											
NRK	203447	broad.mit.edu	37	chrX	105179181	105179181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatacgctggattcgtagaAgtacctgaggaatcacctaa	10	8	1	2			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:105179181A>G	uc004emd.2	+	21	3822	c.3519A>G	c.(3517-3519)GAA>GAG	p.E1173E	NRK_uc010npc.1_Silent_p.E841E	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1173							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GATTCGTAGAAGTACCTGAGG	0.378										HNSCC(51;0.14)			G	105179181	A	G	105179181	2	3	190	1	0	0	0	0	0	0	0	1	10655	69	3	3		3	NRK	23	105179181	Silent	SNP	A	TCGA-CG-5722-01A-21D-1600-08	2650051	105179181	50091379	103	103019											
ACTRT1	139741	broad.mit.edu	37	chrX	127185408	127185408	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcaggtgcaaaaagaacctCgggcacttggtacagctcat	11	10	2	1			TCGA-CG-5722-01A-21D-1600-08	TCGA-CG-5722-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d7b4b4-4d1b-42a3-9051-3b84a0b371c4	f209e9fe-c3db-4fe3-bc2f-2f92cee6a331	g.chrX:127185408C>A	uc004eum.2	-	1	975	c.778G>T	c.(778-780)GAG>TAG	p.E260*		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	260						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						AAAAGAACCTCGGGCACTTGG	0.527													A	127185408	C	A	127185408	4	1	190	1	0	0	0	0	0	1	0	0	218	893	31	5	356	5	ACTRT1	23	127185408	Nonsense_Mutation	SNP	C	TCGA-CG-5722-01A-21D-1600-08	22006227	127185408	28085152	104	103020											
NOC2L	26155	broad.mit.edu	37	chr1	886561	886561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagctccccgagagcagCgtcagggcacggatgcagtg	15	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:886561C>T	uc001abz.3	-	12	1448	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	NOC2L_uc001aby.3_Silent_p.T260T|NOC2L_uc009vjq.2_Silent_p.T463T	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	463						nucleolus	protein binding			ovary(1)|skin(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;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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCGAGAGCAGCGTCAGGGCAC	0.677													T	886561	C	T	886561	2	4	191	1	0	0	0	0	0	0	0	1	10513	755	27	1		1	NOC2L	1	886561	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08		886561	248364060	1	103021											
SDF4	51150	broad.mit.edu	37	chr1	1153955	1153955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctgctggttctccacGgtgcccacgggcagggagat	15	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:1153955G>A	uc001adh.3	-	6	1124	c.795C>T	c.(793-795)ACC>ACT	p.T265T	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Silent_p.T265T|SDF4_uc009vjv.2_Silent_p.T143T|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	265	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|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(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;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)		GGTTCTCCACGGTGCCCACGG	0.592													A	1153955	G	A	1153955	2	1	191	1	0	0	0	0	0	0	0	1	13962	1103	39	1		1	SDF4	1	1153955	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	267394	1153955	248096666	2	103022											
TAS1R3	83756	broad.mit.edu	37	chr1	1267095	1267095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaacaagtcggatctgcTgcccgggctgcgcctgggct	13	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:1267095T>C	uc010nyk.1	+	2	269	c.269T>C	c.(268-270)CTG>CCG	p.L90P		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	90	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	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)	TCGGATCTGCTGCCCGGGCTG	0.622													C	1267095	T	C	1267095	3	2	191	1	0	0	0	0	1	0	0	0	15561	1580	55	3	275	3	TAS1R3	1	1267095	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	113140	1267095	247983526	3	103023											
PLCH2	9651	broad.mit.edu	37	chr1	2415898	2415898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgcaggaagcggacacGgatgaccaccaagggacgct	14	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:2415898G>A	uc001aji.1	+	5	931	c.657G>A	c.(655-657)ACG>ACA	p.T219T	PLCH2_uc010nyz.1_Silent_p.T7T|PLCH2_uc009vle.1_Silent_p.T7T|PLCH2_uc001ajj.1_Silent_p.T7T|PLCH2_uc001ajk.1_Silent_p.T7T	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	219	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	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)		AAGCGGACACGGATGACCACC	0.597													A	2415898	G	A	2415898	2	1	191	1	0	0	0	0	0	0	0	1	12038	1103	39	1		1	PLCH2	1	2415898	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1148803	2415898	246834723	4	103024											
ACTRT2	140625	broad.mit.edu	37	chr1	2939367	2939367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtttgggacctccgtggtgCagagaagatgcttctgaagg	15	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:2939367C>A	uc001ajz.2	+	1	1322	c.1117C>A	c.(1117-1119)CAG>AAG	p.Q373K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	373						cytoplasm|cytoskeleton					0	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)		CTCCGTGGTGCAGAGAAGATG	0.567													A	2939367	C	A	2939367	3	1	191	1	0	0	0	0	1	0	0	0	219	711	25	5	1119	5	ACTRT2	1	2939367	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	523469	2939367	246311254	5	103025											
MEGF6	1953	broad.mit.edu	37	chr1	3410383	3410383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggcaaaggcagagacCggtgacagggtcacagggtg	19	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:3410383C>T	uc001akl.2	-	34	4566	c.4339G>A	c.(4339-4341)GGT>AGT	p.G1447S	MEGF6_uc001akk.2_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1447						extracellular region	calcium ion binding			large_intestine(1)	1	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)		AGGCAGAGACCGGTGACAGGG	0.662													T	3410383	C	T	3410383	3	4	191	1	0	0	0	0	1	0	0	0	9462	652	23	1	302	1	MEGF6	1	3410383	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	471016	3410383	245840238	6	103026											
MEGF6	1953	broad.mit.edu	37	chr1	3417655	3417655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccataccagcctgctgggCacactacaggcaggcgagag	13	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:3417655C>T	uc001akl.2	-	20	2677	c.2450G>A	c.(2449-2451)TGC>TAC	p.C817Y	MEGF6_uc001akk.2_Missense_Mutation_p.C712Y	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	817						extracellular region	calcium ion binding			large_intestine(1)	1	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)		GCCTGCTGGGCACACTACAGG	0.667													T	3417655	C	T	3417655	3	4	191	1	0	0	0	0	1	0	0	0	9462	710	25	2	2247	2	MEGF6	1	3417655	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7272	3417655	245832966	7	103027											
MEGF6	1953	broad.mit.edu	37	chr1	3421847	3421847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacggagtcacaggccaCgcccactgggcaggtgcatg	14	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:3421847C>T	uc001akl.2	-	17	2340	c.2113G>A	c.(2113-2115)GTG>ATG	p.V705M	MEGF6_uc001akk.2_Missense_Mutation_p.V600M	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	705						extracellular region	calcium ion binding			large_intestine(1)	1	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)		TCACAGGCCACGCCCACTGGG	0.687													T	3421847	C	T	3421847	3	4	191	1	0	0	0	0	1	0	0	0	9462	536	19	1	2596	1	MEGF6	1	3421847	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4192	3421847	245828774	8	103028											
PLEKHG5	57449	broad.mit.edu	37	chr1	6530390	6530390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggatgggcgctgtcaagTccaggtgcagaaattccttc	13	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:6530390T>C	uc001ano.1	-	17	1975	c.1874A>G	c.(1873-1875)GAC>GGC	p.D625G	PLEKHG5_uc001ann.1_Missense_Mutation_p.D606G|PLEKHG5_uc001anq.1_Missense_Mutation_p.D646G|PLEKHG5_uc001anp.1_Missense_Mutation_p.D646G|PLEKHG5_uc001anj.1_Missense_Mutation_p.D130G|PLEKHG5_uc009vma.1_Missense_Mutation_p.D409G|PLEKHG5_uc010nzr.1_Missense_Mutation_p.D638G|PLEKHG5_uc001ank.1_Missense_Mutation_p.D569G|PLEKHG5_uc009vmb.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anl.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anm.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	625					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)		CGCTGTCAAGTCCAGGTGCAG	0.617													C	6530390	T	C	6530390	3	2	191	1	0	0	0	0	1	0	0	0	12073	1667	58	3	1338	3	PLEKHG5	1	6530390	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3108543	6530390	242720231	9	103029											
SLC45A1	50651	broad.mit.edu	37	chr1	8390770	8390770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagcgtcagcttcccccGggcccccgacggcttctacc	9	20	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:8390770G>A	uc001apb.2	+	4	1217	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	SLC45A1_uc001apc.2_Missense_Mutation_p.R104Q	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	406					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	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)		AGCTTCCCCCGGGCCCCCGAC	0.677													A	8390770	G	A	8390770	3	1	191	1	0	0	0	0	1	0	0	0	14640	1116	39	1	1231	1	SLC45A1	1	8390770	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1860380	8390770	240859851	10	103030											
RERE	473	broad.mit.edu	37	chr1	8684392	8684392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagtcttgaatgctacAgatgaaatacggtgtgtttg	11	4	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:8684392A>G	uc001ape.2	-	4	1183	c.373T>C	c.(373-375)TGT>CGT	p.C125R	RERE_uc001apf.2_Missense_Mutation_p.C125R|RERE_uc001aph.1_Missense_Mutation_p.C125R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	125	BAH.				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			ovary(1)|central_nervous_system(1)	2	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)		TGAATGCTACAGATGAAATAC	0.358													G	8684392	A	G	8684392	3	3	191	1	0	0	0	0	1	0	0	0	13231	188	7	3	4411	3	RERE	1	8684392	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	293622	8684392	240566229	11	103031											
PIK3CD	5293	broad.mit.edu	37	chr1	9784903	9784903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctacaccatcctgcggcGccacgggcttctcttcctcc	9	19	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:9784903G>A	uc001aqb.3	+	23	3114	c.2906G>A	c.(2905-2907)CGC>CAC	p.R969H	PIK3CD_uc010oaf.1_Missense_Mutation_p.R968H|PIK3CD_uc001aqe.3_Missense_Mutation_p.R993H	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	969	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			lung(4)|skin(2)|central_nervous_system(1)	7	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)		ATCCTGCGGCGCCACGGGCTT	0.622											OREG0013083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	9784903	G	A	9784903	3	1	191	1	0	0	0	0	1	0	0	0	11915	1087	38	1	2988	1	PIK3CD	1	9784903	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1100511	9784903	239465718	12	103032											
KIF1B	23095	broad.mit.edu	37	chr1	10386385	10386385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggcatgacccgttttaCgaccgatccccttggttcat	10	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:10386385C>T	uc001aqx.3	+	27	3094	c.2892C>T	c.(2890-2892)TAC>TAT	p.Y964Y	KIF1B_uc001aqw.3_Silent_p.Y918Y|KIF1B_uc001aqy.2_Silent_p.Y938Y|KIF1B_uc001aqz.2_Silent_p.Y964Y|KIF1B_uc001ara.2_Silent_p.Y924Y|KIF1B_uc001arb.2_Silent_p.Y950Y	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	964					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		ACCCGTTTTACGACCGATCCC	0.537													T	10386385	C	T	10386385	2	4	191	1	0	0	0	0	0	0	0	1	8284	547	19	1		1	KIF1B	1	10386385	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	601482	10386385	238864236	13	103033											
KIF1B	23095	broad.mit.edu	37	chr1	10425169	10425171	+	In_Frame_Del	DEL	AGG	AGG	-													ttgtcttaggtatgcagagaAggagaagaaaaatcttagat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:10425168_10425170AAGG>A	uc001aqx.4	+	41	4579_4581	c.4377_4379AAGG>A	c.(4375-4380)agaagg>agAg	p.1459_1460RR>R	KIF1B_uc001aqw.4_In_Frame_Del_p.1413_1414RR>R|KIF1B_uc001aqy.3_In_Frame_Del_p.1433_1434RR>R|KIF1B_uc001aqz.3_In_Frame_Del_p.1459_1460RR>R|KIF1B_uc001ara.3_In_Frame_Del_p.1419_1420RR>R|KIF1B_uc001arb.3_In_Frame_Del_p.1445_1446RR>R	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1459					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)		GTATGCAGAGAAGGAGAAGAAAA	0.399													-	10425171	AGG	-	10425169	7	5	191	1	0	1	0	1	0	0	0	0	8284	63	3	0	5883	0	KIF1B	1	10425169	In_Frame_Del	DEL	AGG	TCGA-CG-5723-01A-11D-1600-08	38784	10425169	238825452	14	103034											
SRM	6723	broad.mit.edu	37	chr1	11115064	11115064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcggcgcggtgcacgtcGgagttgtagtacttcagctg	16	9	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11115064G>A	uc001arz.1	-	7	934	c.843C>T	c.(841-843)TCC>TCT	p.S281S	SRM_uc001ary.1_Silent_p.S142S	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	281					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity				0	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)	STAD - Stomach adenocarcinoma(5;0.228)	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)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GGTGCACGTCGGAGTTGTAGT	0.687													A	11115064	G	A	11115064	2	1	191	1	0	0	0	0	0	0	0	1	15150	1103	39	1		1	SRM	1	11115064	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	689895	11115064	238135557	15	103035											
MTOR	2475	broad.mit.edu	37	chr1	11307985	11307985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccttggtgagagctgTaccccagcagccccaccaag	12	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11307985T>C	uc001asd.2	-	7	1128	c.1007A>G	c.(1006-1008)TAC>TGC	p.Y336C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	336					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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GTGAGAGCTGTACCCCAGCAG	0.572													C	11307985	T	C	11307985	3	2	191	1	0	0	0	0	1	0	0	0	9954	1638	57	3	6850	3	MTOR	1	11307985	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	192921	11307985	237942636	16	103036											
UBIAD1	29914	broad.mit.edu	37	chr1	11345717	11345717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaattggattcaagtaCgtggctctgggagacctcat	13	8	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11345717C>T	uc001asg.2	+	2	880	c.546C>T	c.(544-546)TAC>TAT	p.Y182Y		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	182					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GATTCAAGTACGTGGCTCTGG	0.552													T	11345717	C	T	11345717	2	4	191	1	0	0	0	0	0	0	0	1	16882	547	19	1		1	UBIAD1	1	11345717	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	37732	11345717	237904904	17	103037											
CLCN6	1185	broad.mit.edu	37	chr1	11889314	11889314	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtttgtggcctcgatgGtgttaggagaatgccgacag	16	6	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11889314G>C	uc001ate.3	+	13	1296	c.1183G>C	c.(1183-1185)GTG>CTG	p.V395L	CLCN6_uc009vnh.1_Missense_Mutation_p.G339A|CLCN6_uc010oat.1_Missense_Mutation_p.V111L|CLCN6_uc010oau.1_Missense_Mutation_p.V373L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	395					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	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)		GGCCTCGATGGTGTTAGGAGA	0.512													C	11889314	G	C	11889314	3	2	191	1	0	0	0	0	1	0	0	0	3467	1261	44	5	1243	5	CLCN6	1	11889314	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	543597	11889314	237361307	18	103038											
AADACL4	343066	broad.mit.edu	37	chr1	12725975	12725975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgttttcgttttaggtaCcgcaagcttcctgaccacca	7	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:12725975C>T	uc001auf.2	+	4	453	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	151	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	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)		GTTTTAGGTACCGCAAGCTTC	0.502													T	12725975	C	T	12725975	2	4	191	1	0	0	0	0	0	0	0	1	13	518	18	4		4	AADACL4	1	12725975	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	836661	12725975	236524646	19	103039											
LOC649330	649330	broad.mit.edu	37	chr1	12907847	12907847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtacatctccgctgctgatCgtttcacacctgcgtttcct	7	15	2	1	rs150230498		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:12907847C>T	uc009vno.2	-	1	391	c.296G>A	c.(295-297)CGA>CAA	p.R99Q	HNRNPCL1_uc010obf.1_Missense_Mutation_p.R99Q	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	99							nucleic acid binding|nucleotide binding				0						CGCTGCTGATCGTTTCACACC	0.488													T	12907847	C	T	12907847	3	4	191	1	0	0	0	0	1	0	0	0	8885	884	31	1	589	1	LOC649330	1	12907847	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	181872	12907847	236342774	20	103040											
PRDM2	7799	broad.mit.edu	37	chr1	14105507	14105507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacacagattaaccggcGgcgacatgagcggcgccatg	14	12	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:14105507G>A	uc001avi.2	+	8	2073	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.R406Q|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.R163Q|PRDM2_uc001avk.2_Missense_Mutation_p.R205Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	406	C2H2-type 2.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		ATTAACCGGCGGCGACATGAG	0.517													A	14105507	G	A	14105507	3	1	191	1	0	0	0	0	1	0	0	0	12458	1116	39	1	1243	1	PRDM2	1	14105507	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1197660	14105507	235145114	21	103041											
PRDM2	7799	broad.mit.edu	37	chr1	14107336	14107336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactctcaaatgccaccGcacagtccccacttccaatt	3	19	1	0	rs138768059		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:14107336G>A	uc001avi.2	+	8	3902	c.3046G>A	c.(3046-3048)GCA>ACA	p.A1016T	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A1016T|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.A815T|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1016	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		AAATGCCACCGCACAGTCCCC	0.642													A	14107336	G	A	14107336	3	1	191	1	0	0	0	0	1	0	0	0	12458	1087	38	1	3072	1	PRDM2	1	14107336	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1829	14107336	235143285	22	103042											
TMEM82	388595	broad.mit.edu	37	chr1	16071011	16071011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacttcctgaccacctcGgaggccatgcggttctggac	12	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:16071011G>A	uc001axc.2	+	4	831	c.693G>A	c.(691-693)TCG>TCA	p.S231S		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	231	Leu-rich.					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCACCTCGGAGGCCATGC	0.642													A	16071011	G	A	16071011	2	1	191	1	0	0	0	0	0	0	0	1	16203	1103	39	1		1	TMEM82	1	16071011	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1963675	16071011	233179610	23	103043											
CLCNKB	1188	broad.mit.edu	37	chr1	16377497	16377497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgggaatggtaccaccCgcggttcaccatctttggga	14	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:16377497C>T	uc001axw.3	+	12	1261	c.1181C>T	c.(1180-1182)CCG>CTG	p.P394L	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.P394L|CLCNKB_uc001axy.3_Missense_Mutation_p.P225L	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	394					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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)		TGGTACCACCCGCGGTTCACC	0.637													T	16377497	C	T	16377497	3	4	191	1	0	0	0	0	1	0	0	0	3470	652	23	1	1371	1	CLCNKB	1	16377497	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	306486	16377497	232873124	24	103044											
ATP13A2	23400	broad.mit.edu	37	chr1	17331318	17331318	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggggacggctccaggcTggggaagcaggtgagggtta	20	7	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:17331318T>C	uc001baa.2	-	5	538	c.348_splice	c.e5-1	p.S116_splice	ATP13A2_uc001bab.2_Splice_Site_p.S116_splice|ATP13A2_uc001bac.2_Splice_Site_p.S116_splice	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		GGCTCCAGGCTGGGGAAGCAG	0.667													C	17331318	T	C	17331318	5	2	191	1	0	0	0	0	0	0	1	0	1124	1594	55	3	3532	3	ATP13A2	1	17331318	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	953821	17331318	231919303	25	103045											
IGSF21	84966	broad.mit.edu	37	chr1	18661444	18661444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgccatgtgggcatctacGaccgcgccaccagggagaag	14	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:18661444G>A	uc001bau.1	+	4	747	c.364G>A	c.(364-366)GAC>AAC	p.D122N		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	122	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		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)		GGGCATCTACGACCGCGCCAC	0.622													A	18661444	G	A	18661444	3	1	191	1	0	0	0	0	1	0	0	0	7599	1058	37	1	378	1	IGSF21	1	18661444	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1330126	18661444	230589177	26	103046											
IGSF21	84966	broad.mit.edu	37	chr1	18691970	18691970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaaccacagagaacaTaccagagacggtcgtgagcc	10	14	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:18691970T>C	uc001bau.1	+	6	1177	c.794T>C	c.(793-795)ATA>ACA	p.I265T	IGSF21_uc001bav.1_Missense_Mutation_p.I86T	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	265						extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		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)		ACAGAGAACATACCAGAGACG	0.672													C	18691970	T	C	18691970	3	2	191	1	0	0	0	0	1	0	0	0	7599	1406	49	3	816	3	IGSF21	1	18691970	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	30526	18691970	230558651	27	103047											
KIAA0090	23065	broad.mit.edu	37	chr1	19549974	19549974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgatacgcccagtgacGccatcaatgaggaagatgcc	11	10	1	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:19549974G>A	uc001bbo.2	-	19	2335	c.2292C>T	c.(2290-2292)GGC>GGT	p.G764G	KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.G763G|KIAA0090_uc001bbq.2_Silent_p.G763G|KIAA0090_uc001bbr.2_Silent_p.G742G	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	764	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GCCCAGTGACGCCATCAATGA	0.552													A	19549974	G	A	19549974	2	1	191	1	0	0	0	0	0	0	0	1	8153	1074	38	1		1	KIAA0090	1	19549974	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	858004	19549974	229700647	28	103048											
KIF17	57576	broad.mit.edu	37	chr1	21042044	21042044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcctctctgggagggcGgatccggcaggccctgcatg	16	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:21042044G>A	uc001bdr.3	-	2	438	c.320C>T	c.(319-321)CCG>CTG	p.P107L	KIF17_uc001bds.3_Missense_Mutation_p.P107L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	107	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		CTGGGAGGGCGGATCCGGCAG	0.657													A	21042044	G	A	21042044	3	1	191	1	0	0	0	0	1	0	0	0	8279	1116	39	1	2825	1	KIF17	1	21042044	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1492070	21042044	228208577	29	103049											
HSPG2	3339	broad.mit.edu	37	chr1	22150206	22150206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggatggaacctctgcgGccctccctgcagtggaactg	12	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22150206G>A	uc001bfj.2	-	96	12946	c.12906C>T	c.(12904-12906)GGC>GGT	p.G4302G	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.G319G|HSPG2_uc009vqd.2_Silent_p.G4303G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4302	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	AACCTCTGCGGCCCTCCCTGC	0.637													A	22150206	G	A	22150206	2	1	191	1	0	0	0	0	0	0	0	1	7430	1190	42	2		2	HSPG2	1	22150206	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1108162	22150206	227100415	30	103050											
HSPG2	3339	broad.mit.edu	37	chr1	22214000	22214000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgcccattgcggcatgCggcctcctggggcccacagg	15	15	0	0	rs148693072	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22214000C>T	uc001bfj.2	-	8	911	c.871G>A	c.(871-873)GCA>ACA	p.A291T	HSPG2_uc009vqd.2_Missense_Mutation_p.A291T|HSPG2_uc009vqe.1_Silent_p.P189P	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	291	LDL-receptor class A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	TTGCGGCATGCGGCCTCCTGG	0.667													T	22214000	C	T	22214000	3	4	191	1	0	0	0	0	1	0	0	0	7430	768	27	1	12664	1	HSPG2	1	22214000	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	63794	22214000	227036621	31	103051											
EPHA8	2046	broad.mit.edu	37	chr1	22902954	22902954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaccgcgacctgggggCcagcacacaagaaagccagt	14	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22902954C>T	uc001bfx.1	+	3	529	c.404C>T	c.(403-405)GCC>GTC	p.A135V	EPHA8_uc001bfw.2_Missense_Mutation_p.A135V	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	135	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A135T(1)		central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GACCTGGGGGCCAGCACACAA	0.592													T	22902954	C	T	22902954	3	4	191	1	0	0	0	0	1	0	0	0	5173	739	26	2	414	2	EPHA8	1	22902954	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	688954	22902954	226347667	32	103052											
C1QA	712	broad.mit.edu	37	chr1	22964234	22964234	+	Frame_Shift_Del	DEL	G	G	-													ggcaggaagacctggcagacGggggcggccaggcctcaagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22964234delG	uc001bfy.2	+	2	210	c.125delG	c.(124-126)CGGfs	p.R42fs	C1QA_uc001bfz.2_Frame_Shift_Del_p.R42fs	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	42	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		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)	CCTGGCAGACGGGGGCGGCCA	0.657													-	22964234	G	-	22964234	7	5	191	1	0	1	0	1	0	0	0	0	1954	1116	39	0	127	0	C1QA	1	22964234	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	61280	22964234	226286387	33	103053											
FAM54B	56181	broad.mit.edu	37	chr1	26156309	26156310	+	Frame_Shift_Del	DEL	AG	AG	-													ggactttcaccgaatgaaacAgagtcaagatctgtaagtat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:26156308_26156309CAG>C	uc010oet.2	+	5	993_994	c.859_860CAG>C	c.(859-861)cagfs	p.Q287fs	FAM54B_uc001bkq.4_Frame_Shift_Del_p.Q254fs|FAM54B_uc001bkr.4_3'UTR|FAM54B_uc009vrz.3_Frame_Shift_Del_p.Q239fs|FAM54B_uc001bks.4_Frame_Shift_Del_p.Q254fs|FAM54B_uc001bkt.4_Frame_Shift_Del_p.Q254fs|FAM54B_uc001bku.4_3'UTR|FAM54B_uc001bkv.4_Frame_Shift_Del_p.Q157fs			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	254								p.Q254*(1)		endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|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;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAATGAAACAGAGTCAAGAT	0.441													-	26156310	AG	-	26156309	7	5	191	1	0	1	0	1	0	0	0	0	5583	188	7	0	779	0	FAM54B	1	26156309	Frame_Shift_Del	DEL	AG	TCGA-CG-5723-01A-11D-1600-08	3192075	26156309	223094312	34	103054											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	191	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	949622	27105931	222144690	35	103055											
ZDHHC18	84243	broad.mit.edu	37	chr1	27158994	27158996	+	In_Frame_Del	DEL	TCT	TCT	-													ccccatcatcgctgccatccTcttcttcttcgtcatgagct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27158993_27158995CTCT>C	uc001bnb.3	+	1	486_488	c.391_393CTCT>C	c.(391-393)ctc>C	p.L131del	BC016143_uc021ojq.1_Intron|ZDHHC18_uc010ofh.1_5'UTR	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	Homo sapiens zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA.	131						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|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)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CGCTGCCATCCTCTTCTTCTTCG	0.596													-	27158996	TCT	-	27158994	7	5	191	1	0	1	0	1	0	0	0	0	17605	1551	54	0	398	0	ZDHHC18	1	27158994	In_Frame_Del	DEL	TCT	TCGA-CG-5723-01A-11D-1600-08	53063	27158994	222091627	36	103056											
ZDHHC18	84243	broad.mit.edu	37	chr1	27177668	27177668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctggtccattctgggCctctcagggtttcacacgta	9	13	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27177668C>T	uc001bnb.2	+	6	977	c.882C>T	c.(880-882)GGC>GGT	p.G294G		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	294	Helical; (Potential).					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|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)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CCATTCTGGGCCTCTCAGGGT	0.572													T	27177668	C	T	27177668	2	4	191	1	0	0	0	0	0	0	0	1	17605	726	26	2		2	ZDHHC18	1	27177668	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	18674	27177668	222072953	37	103057											
WDTC1	23038	broad.mit.edu	37	chr1	27622888	27622889	+	Frame_Shift_Ins	INS	-	-	G													ctagaaaatgccactcctcgINSgggggtaagttctcccttag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27622887_27622888C>CG	uc009vst.2	+	9	1479_1480	c.944_945C>CG	c.(943-945)tcgfs	p.S315fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.S315fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'UTR	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	315							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)		TGCCACTCCTCGGGGGGTAAGT	0.52													G	27622889	-	G	27622888	7	5	191	1	0	1	1	0	0	0	0	0	17339	1103	39	0	979	0	WDTC1	1	27622888	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	445220	27622888	221627733	38	103058											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285220	28285220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctgcagcatgcagcaCgtgtgtgccatgcgccaggt	15	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:28285220C>T	uc001bpg.2	+	8	1430	c.1239C>T	c.(1237-1239)CAC>CAT	p.H413H	SMPDL3B_uc010ofq.1_Silent_p.H207H|SMPDL3B_uc010ofr.1_Silent_p.H365H|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	413					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		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)		GCATGCAGCACGTGTGTGCCA	0.627													T	28285220	C	T	28285220	2	4	191	1	0	0	0	0	0	0	0	1	14809	535	19	1		1	SMPDL3B	1	28285220	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	662332	28285220	220965401	39	103059											
PTPRU	10076	broad.mit.edu	37	chr1	29638197	29638197	+	Frame_Shift_Del	DEL	G	G	-													cggaggactcagacacctacGgggacatcaagattatgctg					rs142752020	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:29638196_29638196CG>C	uc001bru.3	+	21	3156	c.3027_3027CG>C	c.(3025-3027)tacfs	p.Y1009fs	PTPRU_uc009vtq.3_Frame_Shift_Del_p.Y1005fs|PTPRU_uc009vtr.3_Frame_Shift_Del_p.Y996fs|PTPRU_uc001brw.3_Frame_Shift_Del_p.Y999fs	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1009	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)		CAGACACCTACGGGGACATCA	0.607													-	29638197	G	-	29638197	7	5	191	1	0	1	0	1	0	0	0	0	12813	1116	39	0	3136	0	PTPRU	1	29638197	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1352977	29638197	219612424	40	103060											
MATN1	4146	broad.mit.edu	37	chr1	31187163	31187163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagggactcgcaggcacAcgggtcttcctctgcagggg	14	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:31187163A>G	uc001brz.2	-	7	1406	c.1372T>C	c.(1372-1374)TGT>CGT	p.C458R	MATN1_uc001bsa.1_Missense_Mutation_p.C376R	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	458					protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		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)		TCGCAGGCACACGGGTCTTCC	0.622													G	31187163	A	G	31187163	3	3	191	1	0	0	0	0	1	0	0	0	9333	159	6	3	126	3	MATN1	1	31187163	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1548966	31187163	218063458	41	103061											
SERINC2	347735	broad.mit.edu	37	chr1	31902257	31902257	+	Frame_Shift_Del	DEL	C	C	-													tctccagaacagaaatgcaaCccccatttgccaacccagct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:31902256_31902256AC>A	uc021okm.1	+	8	1184	c.911_911AC>A	c.(910-912)aacfs	p.N304fs	SERINC2_uc010ogg.2_Frame_Shift_Del_p.N299fs|SERINC2_uc001bst.3_Frame_Shift_Del_p.N295fs|SERINC2_uc001bsu.3_Frame_Shift_Del_p.N240fs|SERINC2_uc010ogh.2_Frame_Shift_Del_p.N299fs	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	295						integral to membrane		p.N304N(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CAGAAATGCAACCCCCATTTG	0.612													-	31902257	C	-	31902257	7	5	191	1	0	1	0	1	0	0	0	0	14080	506	18	0	915	0	SERINC2	1	31902257	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	715094	31902257	217348364	42	103062											
HCRTR1	3061	broad.mit.edu	37	chr1	32084832	32084832	+	Frame_Shift_Del	DEL	C	C	-													ccaggggcccagatgggggtCccccctggcagcagagagcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:32084831_32084831TC>T	uc009vtx.2	+	2	423	c.38_38TC>T	c.(37-39)gtcfs	p.V13fs	HCRTR1_uc001btc.4_5'UTR|HCRTR1_uc001btd.2_Frame_Shift_Del_p.V13fs|HCRTR1_uc010ogl.2_Frame_Shift_Del_p.V13fs	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	13					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CAGATGGGGGTCCCCCCTGGC	0.607													-	32084832	C	-	32084832	7	5	191	1	0	1	0	1	0	0	0	0	7001	842	30	0	41	0	HCRTR1	1	32084832	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	182575	32084832	217165789	43	103063											
BSDC1	55108	broad.mit.edu	37	chr1	32834083	32834083	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttggaaagtgccatctGcacctcctcttcagtcatgt	7	13	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:32834083G>A	uc001bvh.3	-	10	1272	c.1225C>T	c.(1225-1227)CAG>TAG	p.Q409*	BSDC1_uc010ohg.1_Nonsense_Mutation_p.Q426*|BSDC1_uc010ohh.1_Nonsense_Mutation_p.Q353*|BSDC1_uc010ohi.1_Nonsense_Mutation_p.Q314*|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Nonsense_Mutation_p.Q305*|BSDC1_uc001bvi.2_Nonsense_Mutation_p.Q426*	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	409							protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTGCCATCTGCACCTCCTCT	0.572													A	32834083	G	A	32834083	4	1	191	1	0	0	0	0	0	1	0	0	1528	1328	46	2	75	2	BSDC1	1	32834083	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	749251	32834083	216416538	44	103064											
S100PBP	64766	broad.mit.edu	37	chr1	33292032	33292032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaccagtagctgagactcCtgacctcttcaaactacctc	8	14	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:33292032C>A	uc001bvz.2	+	3	609	c.332C>A	c.(331-333)CCT>CAT	p.P111H	S100PBP_uc001bwa.1_Missense_Mutation_p.P111H|S100PBP_uc001bwb.1_Missense_Mutation_p.P111H|S100PBP_uc001bwc.2_Missense_Mutation_p.P111H|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	111						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCTGAGACTCCTGACCTCTTC	0.443													A	33292032	C	A	33292032	3	1	191	1	0	0	0	0	1	0	0	0	13791	681	24	5	334	5	S100PBP	1	33292032	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	457949	33292032	215958589	45	103065											
KIAA0319L	79932	broad.mit.edu	37	chr1	35919162	35919162	+	Frame_Shift_Del	DEL	T	T	-													ttgtgtcaatactcactgtgTtttttcccagagatatgaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:35919161_35919161GT>G	uc001byx.3	-	11	2168	c.1910_1910AC>C	c.(1909-1911)acafs	p.T637fs	KIAA0319L_uc001byw.3_Frame_Shift_Del_p.T74fs|KIAA0319L_uc010ohv.1_Frame_Shift_Del_p.T279fs	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	637	PKD 4.					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)				TACTCACTGTGTTTTTTCCCA	0.423													-	35919162	T	-	35919162	7	5	191	1	0	1	0	1	0	0	0	0	8169	1725	60	0	1280	0	KIAA0319L	1	35919162	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2627130	35919162	213331459	46	103066											
NCDN	23154	broad.mit.edu	37	chr1	36028847	36028847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaccgttgaagatgggcCccgggagatcctgatcaagg	14	11	1	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:36028847C>A	uc001bza.2	+	6	1557	c.1430C>A	c.(1429-1431)CCC>CAC	p.P477H	NCDN_uc001bzb.2_Missense_Mutation_p.P477H|NCDN_uc001bzc.2_Missense_Mutation_p.P460H	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	477					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATGGGCCCCGGGAGATC	0.607													A	36028847	C	A	36028847	3	1	191	1	0	0	0	0	1	0	0	0	10214	623	22	5	1448	5	NCDN	1	36028847	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	109685	36028847	213221774	47	103067											
THRAP3	9967	broad.mit.edu	37	chr1	36755130	36755130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagatccaaaaaggaagatCggggcaagagaagcgaaggt	15	5	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:36755130C>T	uc001cae.3	+	5	1734	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	THRAP3_uc001caf.3_Missense_Mutation_p.R504W|THRAP3_uc001cag.1_Missense_Mutation_p.R504W	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	504					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			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGGAAGATCGGGGCAAGAG	0.517			T	USP6	aneurysmal bone cysts								T	36755130	C	T	36755130	3	4	191	1	0	0	0	0	1	0	0	0	15871	875	31	1	1520	1	THRAP3	1	36755130	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	726283	36755130	212495491	48	103068											
SF3A3	10946	broad.mit.edu	37	chr1	38444662	38444662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaactattccttacccGccacatttcaagcctaaagc	4	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:38444662G>A	uc001cci.2	-	10	949	c.825C>T	c.(823-825)GGC>GGT	p.G275G	SF3A3_uc010oik.1_Silent_p.G222G	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	275					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCCTTACCCGCCACATTTCA	0.368													A	38444662	G	A	38444662	2	1	191	1	0	0	0	0	0	0	0	1	14148	1074	38	1		1	SF3A3	1	38444662	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1689532	38444662	210805959	49	103069											
MACF1	23499	broad.mit.edu	37	chr1	39751055	39751055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacactagctaagaatacacTgcaggctgtaagtctctgac	9	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:39751055T>C	uc010ois.1	+	14	1566	c.1361T>C	c.(1360-1362)CTG>CCG	p.L454P	MACF1_uc001cda.1_Missense_Mutation_p.L362P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	454	LRR 4.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			AAGAATACACTGCAGGCTGTA	0.408													C	39751055	T	C	39751055	3	2	191	1	0	0	0	0	1	0	0	0	9144	1580	55	3	1407	3	MACF1	1	39751055	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1306393	39751055	209499566	50	103070											
MACF1	23499	broad.mit.edu	37	chr1	39758498	39758498	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggaaagctggagacaCagtattgtaaattgaaggtg	12	5	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:39758498C>T	uc010ois.1	+	18	2195	c.1990C>T	c.(1990-1992)CAG>TAG	p.Q664*	MACF1_uc001cda.1_Nonsense_Mutation_p.Q572*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	664					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GCTGGAGACACAGTATTGTAA	0.383													T	39758498	C	T	39758498	4	4	191	1	0	0	0	0	0	1	0	0	9144	479	17	4	2052	4	MACF1	1	39758498	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7443	39758498	209492123	51	103071											
MACF1	23499	broad.mit.edu	37	chr1	39851380	39851380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttggacaacggctgagtgTccagtcagctatcagcaccc	11	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:39851380T>C	uc010oiu.1	+	21	9574	c.9443T>C	c.(9442-9444)GTC>GCC	p.V3148A	MACF1_uc010ois.1_Missense_Mutation_p.V2646A|MACF1_uc001cda.1_Missense_Mutation_p.V2533A|MACF1_uc001cdc.1_Missense_Mutation_p.V1712A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4713					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			CGGCTGAGTGTCCAGTCAGCT	0.498													C	39851380	T	C	39851380	3	2	191	1	0	0	0	0	1	0	0	0	9144	1667	58	3	14294	3	MACF1	1	39851380	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	92882	39851380	209399241	52	103072											
HIVEP3	59269	broad.mit.edu	37	chr1	42048809	42048809	+	Frame_Shift_Del	DEL	G	G	-													gctacctcggaaggggtggtGgggggtgctgatagtgcagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:42048808_42048808TG>T	uc001cgz.4	-	3	2874	c.1661_1661CA>A	c.(1660-1662)cacfs	p.H554fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.H554fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	554	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				GAAGGGGTGGTGGGGGGTGCT	0.627													-	42048809	G	-	42048809	7	5	191	1	0	1	0	1	0	0	0	0	7188	1348	47	0	5584	0	HIVEP3	1	42048809	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2197429	42048809	207201812	53	103073											
HIVEP3	59269	broad.mit.edu	37	chr1	42049096	42049096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctcgatcacctgcgtcCggggtacagacaaaggcacc	12	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:42049096C>T	uc001cgz.3	-	4	2586	c.1373G>A	c.(1372-1374)CGG>CAG	p.R458Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R458Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	458	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACCTGCGTCCGGGGTACAGA	0.627													T	42049096	C	T	42049096	3	4	191	1	0	0	0	0	1	0	0	0	7188	652	23	1	5871	1	HIVEP3	1	42049096	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	287	42049096	207201525	54	103074											
CLDN19	149461	broad.mit.edu	37	chr1	43205659	43205659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttccactgtggcagggCtgtgctagcaatgatgccca	12	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43205659C>T	uc001cht.1	-	1	267	c.76G>A	c.(76-78)GCC>ACC	p.A26T	CLDN19_uc001chu.2_Missense_Mutation_p.A26T|CLDN19_uc010ojv.1_Missense_Mutation_p.A26T	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	26	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTGGCAGGGCTGTGCTAGCA	0.637													T	43205659	C	T	43205659	3	4	191	1	0	0	0	0	1	0	0	0	3480	797	28	2	734	2	CLDN19	1	43205659	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1156563	43205659	206044962	55	103075											
WDR65	149465	broad.mit.edu	37	chr1	43675514	43675514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcggtgggaaccattcGtgccatgaagtaccctctgc	10	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43675514G>A	uc001cip.1	+	11	1977	c.1856G>A	c.(1855-1857)CGT>CAT	p.R619H	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R608H|WDR65_uc001ciq.1_Missense_Mutation_p.R619H	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	619										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACCATTCGTGCCATGAAG	0.552													A	43675514	G	A	43675514	3	1	191	1	0	0	0	0	1	0	0	0	17313	1145	40	1	1894	1	WDR65	1	43675514	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	469855	43675514	205575107	56	103076											
CDC20	991	broad.mit.edu	37	chr1	43828733	43828733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttgagttggaccctgCgcggcggcgggagcgggaga	19	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43828733C>T	uc001cix.2	+	11	1534	c.1433C>T	c.(1432-1434)GCG>GTG	p.A478V	CDC20_uc001ciy.2_Missense_Mutation_p.A478V	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	478	WD 7.				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				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGGACCCTGCGCGGCGGCGG	0.592													T	43828733	C	T	43828733	3	4	191	1	0	0	0	0	1	0	0	0	3059	768	27	1	1471	1	CDC20	1	43828733	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	153219	43828733	205421888	57	103077											
KIAA0467	23334	broad.mit.edu	37	chr1	43913621	43913621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctttgaggagcaaggagAggctgagcggcacgttctgc	15	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43913621A>G	uc001cjk.1	+	53	7307	c.6845A>G	c.(6844-6846)GAG>GGG	p.E2282G	KIAA0467_uc001cjl.1_Missense_Mutation_p.E270G	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3181						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCAAGGAGAGGCTGAGCGG	0.572													G	43913621	A	G	43913621	3	3	191	1	0	0	0	0	1	0	0	0	8178	304	11	3	7047	3	KIAA0467	1	43913621	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	84888	43913621	205337000	58	103078											
HPDL	84842	broad.mit.edu	37	chr1	45793679	45793679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctccccctggggcaTactaccagcagccaggaaag	11	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:45793679T>C	uc001cne.2	+	1	1135	c.859T>C	c.(859-861)TAC>CAC	p.Y287H		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	287					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CCCTGGGGCATACTACCAGCA	0.612													C	45793679	T	C	45793679	3	2	191	1	0	0	0	0	1	0	0	0	7333	1406	49	3	861	3	HPDL	1	45793679	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1880058	45793679	203456942	59	103079											
IPP	3652	broad.mit.edu	37	chr1	46193312	46193312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttattattacctccaatagCgtagaccatccctcccagaa	4	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:46193312C>T	uc001cou.2	-	5	1306	c.1039G>A	c.(1039-1041)GCT>ACT	p.A347T	IPP_uc001cos.3_Missense_Mutation_p.A347T	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	347	Kelch 2.					actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCTCCAATAGCGTAGACCATC	0.378													T	46193312	C	T	46193312	3	4	191	1	0	0	0	0	1	0	0	0	7800	768	27	1	837	1	IPP	1	46193312	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	399633	46193312	203057309	60	103080											
MAST2	23139	broad.mit.edu	37	chr1	46500323	46500323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggcacccaagctccaaCgccagtaccgctctccacgg	9	18	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:46500323C>T	uc001cov.2	+	29	4265	c.3982C>T	c.(3982-3984)CGC>TGC	p.R1328C	MAST2_uc001cow.2_Missense_Mutation_p.R1327C|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1328					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCTCCAACGCCAGTACCG	0.672													T	46500323	C	T	46500323	3	4	191	1	0	0	0	0	1	0	0	0	9325	536	19	1	4096	1	MAST2	1	46500323	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	307011	46500323	202750298	61	103081											
DMBX1	127343	broad.mit.edu	37	chr1	46978015	46978016	+	Frame_Shift_Del	DEL	GT	GT	-													agccgctgctgcccaccaggGtgtgtgggggtctcctctgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:46978014_46978015GGT>G	uc001cpx.3	+	3	1012_1013	c.997_998GGT>G	c.(997-999)ggtfs	p.G333fs	DMBX1_uc001cpw.3_Frame_Shift_Del_p.G328fs	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	333					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGCCCACCAGGGTGTGTGGGGG	0.639													-	46978016	GT	-	46978015	7	5	191	1	0	1	0	1	0	0	0	0	4578	1261	44	0	1012	0	DMBX1	1	46978015	Frame_Shift_Del	DEL	GT	TCGA-CG-5723-01A-11D-1600-08	477692	46978015	202272606	62	103082											
STIL	6491	broad.mit.edu	37	chr1	47746581	47746581	+	Frame_Shift_Del	DEL	G	G	-													tttaatactgttcctggtatGggggttccctttcttatagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:47746580_47746580TG>T	uc001crd.1	-	11	1705	c.1550_1550CA>A	c.(1549-1551)catfs	p.H517fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.H470fs|STIL_uc010omo.1_Frame_Shift_Del_p.H517fs|STIL_uc001crc.1_Frame_Shift_Del_p.H517fs|STIL_uc001cre.1_Frame_Shift_Del_p.H517fs|STIL_uc001crf.1_Frame_Shift_Del_p.H130fs|STIL_uc001crg.1_Frame_Shift_Del_p.H470fs	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	517					cell proliferation|multicellular organismal development	centrosome|cytosol				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)				GTTCCTGGTATGGGGGTTCCC	0.408													-	47746581	G	-	47746581	7	5	191	1	0	1	0	1	0	0	0	0	15281	1348	47	0	2341	0	STIL	1	47746581	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	768566	47746581	201504040	63	103083											
ORC1L	4998	broad.mit.edu	37	chr1	52859407	52859407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgagaaggccactttccGttttattcttcctggagaat	8	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:52859407G>A	uc001ctt.2	-	6	1009	c.790C>T	c.(790-792)CGG>TGG	p.R264W	ORC1L_uc010oni.1_Missense_Mutation_p.R264W|ORC1L_uc001ctu.2_Missense_Mutation_p.R264W|ORC1L_uc009vzd.2_Missense_Mutation_p.R18W	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	264					cell cycle checkpoint|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	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GCCACTTTCCGTTTTATTCTT	0.443													A	52859407	G	A	52859407	3	1	191	1	0	0	0	0	1	0	0	0	11261	1144	40	1	1843	1	ORC1L	1	52859407	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5112826	52859407	196391214	64	103084											
LRP8	7804	broad.mit.edu	37	chr1	53732282	53732282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgatcctccgcacctcGtgccggttggtgaagattag	13	11	0	2	rs139974918		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:53732282G>A	uc001cvi.1	-	9	1432	c.1290C>T	c.(1288-1290)CAC>CAT	p.H430H	LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Silent_p.H260H|LRP8_uc001cvj.1_Silent_p.H430H|LRP8_uc001cvl.1_Silent_p.H301H|LRP8_uc001cvm.1_Silent_p.H15H	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	430	Extracellular (Potential).			H -> Y (in Ref. 1; BAA09328, 2; BAA21824/ BAA21825 and 3; CAA99509).	cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						TCCGCACCTCGTGCCGGTTGG	0.552													A	53732282	G	A	53732282	2	1	191	1	0	0	0	0	0	0	0	1	8963	1136	40	1		1	LRP8	1	53732282	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	872875	53732282	195518339	65	103085											
C1orf87	127795	broad.mit.edu	37	chr1	60491079	60491079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagttgacttactttattTcattttggtaacccaaatct	5	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:60491079T>C	uc001czs.1	-	8	1213	c.1121A>G	c.(1120-1122)GAA>GGA	p.E374G		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	374							calcium ion binding			ovary(1)|breast(1)	2						TTACTTTATTTCATTTTGGTA	0.239													C	60491079	T	C	60491079	3	2	191	1	0	0	0	0	1	0	0	0	2064	1783	62	3	539	3	C1orf87	1	60491079	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	6758797	60491079	188759542	66	103086											
NFIA	4774	broad.mit.edu	37	chr1	61554228	61554228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtattccgctggaaagtacTgatggcgagcgccttgtaaa	13	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:61554228T>C	uc001czw.2	+	2	919	c.435T>C	c.(433-435)ACT>ACC	p.T145T	NFIA_uc001czy.2_Silent_p.T137T|NFIA_uc010oos.1_Silent_p.T190T|NFIA_uc001czv.2_Silent_p.T145T	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	145	CTF/NF-I.				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						TGGAAAGTACTGATGGCGAGC	0.468													C	61554228	T	C	61554228	2	2	191	1	0	0	0	0	0	0	0	1	10370	1567	55	3		3	NFIA	1	61554228	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1063149	61554228	187696393	67	103087											
L1TD1	54596	broad.mit.edu	37	chr1	62676034	62676034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaaacaccaggtggtgCacaaaacccaggaggaagag	14	8	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:62676034C>T	uc001dae.3	+	4	1890	c.1588C>T	c.(1588-1590)CAC>TAC	p.H530Y		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	530										ovary(1)|skin(1)	2						CCAGGTGGTGCACAAAACCCA	0.473													T	62676034	C	T	62676034	3	4	191	1	0	0	0	0	1	0	0	0	8589	710	25	2	1594	2	L1TD1	1	62676034	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1121806	62676034	186574587	68	103088											
FOXD3	27022	broad.mit.edu	37	chr1	63789483	63789483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgagcagacggcgctcAtgatgcagagcttcggcgct	15	12	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:63789483A>G	uc001dax.2	+	1	754	c.754A>G	c.(754-756)ATG>GTG	p.M252V		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	252					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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				0						GACGGCGCTCATGATGCAGAG	0.612													G	63789483	A	G	63789483	3	3	191	1	0	0	0	0	1	0	0	0	5998	217	8	3	756	3	FOXD3	1	63789483	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1113449	63789483	185461138	69	103089											
LEPR	3953	broad.mit.edu	37	chr1	66085623	66085623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcagatcattttatccCcattgagaagtaccagttca	5	12	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:66085623C>A	uc001dci.2	+	17	2610	c.2408C>A	c.(2407-2409)CCC>CAC	p.P803H	LEPR_uc001dcg.2_Missense_Mutation_p.P803H|LEPR_uc001dch.2_Missense_Mutation_p.P803H|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P803H|LEPR_uc001dck.2_Missense_Mutation_p.P803H	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	803	Extracellular (Potential).|Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATTTTATCCCCATTGAGAAG	0.284													A	66085623	C	A	66085623	3	1	191	1	0	0	0	0	1	0	0	0	8728	623	22	5	2466	5	LEPR	1	66085623	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2296140	66085623	183164998	70	103090											
WLS	79971	broad.mit.edu	37	chr1	68603590	68603590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttggactgtgacgccGccccatttccaatggccttc	8	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:68603590G>A	uc001def.1	-	11	1660	c.1389C>T	c.(1387-1389)GGC>GGT	p.G463G	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.G461G|WLS_uc001deg.1_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	463	Lumenal (Potential).				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				0						CTGTGACGCCGCCCCATTTCC	0.443													A	68603590	G	A	68603590	2	1	191	1	0	0	0	0	0	0	0	1	17373	1074	38	1		1	WLS	1	68603590	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2517967	68603590	180647031	71	103091											
LRRC7	57554	broad.mit.edu	37	chr1	70493956	70493956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagccaagccatggagtgCgtgttgagaattcaaatcca	11	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:70493956C>T	uc001dep.2	+	16	1813	c.1783C>T	c.(1783-1785)CGT>TGT	p.R595C	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	595						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCATGGAGTGCGTGTTGAGAA	0.408													T	70493956	C	T	70493956	3	4	191	1	0	0	0	0	1	0	0	0	9020	768	27	1	1845	1	LRRC7	1	70493956	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1890366	70493956	178756665	72	103092											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649222	74649222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcatactctaagagagatGcaagactgcaaattttccat	7	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:74649222G>A	uc001dfy.3	-	2	339	c.147C>T	c.(145-147)TGC>TGT	p.C49C	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	49										ovary(2)	2						taagagagatgcaagactgca	0.154													A	74649222	G	A	74649222	2	1	191	1	0	0	0	0	0	0	0	1	9030	1311	46	2		2	LRRIQ3	1	74649222	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4155266	74649222	174601399	73	103093											
AK5	26289	broad.mit.edu	37	chr1	77752792	77752792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaaatggaggacagtcacGgagatcctttctaagaaatg	10	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:77752792G>A	uc001dhn.2	+	2	484	c.227G>A	c.(226-228)CGG>CAG	p.R76Q	AK5_uc001dho.2_Missense_Mutation_p.R50Q|AK5_uc001dhm.1_Missense_Mutation_p.R76Q	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	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			skin(1)	1						GGACAGTCACGGAGATCCTTT	0.368													A	77752792	G	A	77752792	3	1	191	1	0	0	0	0	1	0	0	0	443	1116	39	1	233	1	AK5	1	77752792	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3103570	77752792	171497829	74	103094											
NEXN	91624	broad.mit.edu	37	chr1	78383873	78383873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaacaaaggaagagaaCggaggaggaacgaaaacgca	15	5	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:78383873C>T	uc001dic.3	+	5	659	c.362C>T	c.(361-363)ACG>ATG	p.T121M	NEXN_uc001dia.3_Missense_Mutation_p.T121M|NEXN_uc009wcb.1_Missense_Mutation_p.T57M|NEXN_uc001dib.3_Missense_Mutation_p.T57M|NEXN_uc001did.1_Missense_Mutation_p.T45M|NEXN_uc001dif.1_Missense_Mutation_p.T13M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	121	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		AGGAAGAGAACGGAGGAGGAA	0.368													T	78383873	C	T	78383873	3	4	191	1	0	0	0	0	1	0	0	0	10355	536	19	1	376	1	NEXN	1	78383873	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	631081	78383873	170866748	75	103095											
SSX2IP	117178	broad.mit.edu	37	chr1	85136475	85136475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacatctttgtttctgaggTatattgagagatagttttgc	10	4	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:85136475T>C	uc001dkh.2	-	4	342	c.67A>G	c.(67-69)ACC>GCC	p.T23A	SSX2IP_uc001dkf.2_Translation_Start_Site|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Translation_Start_Site|SSX2IP_uc001dki.2_Missense_Mutation_p.T23A|SSX2IP_uc010osa.1_Translation_Start_Site|SSX2IP_uc001dkj.2_Missense_Mutation_p.T23A|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.T19A	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	23					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTTTCTGAGGTATATTGAGAG	0.313													C	85136475	T	C	85136475	3	2	191	1	0	0	0	0	1	0	0	0	15203	1638	57	3	1825	3	SSX2IP	1	85136475	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	6752602	85136475	164114146	76	103096											
MCOLN2	255231	broad.mit.edu	37	chr1	85431290	85431290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtttccacggaatctggCgtctggctcggtatttttca	10	11	3	0	rs145109809		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:85431290C>T	uc001dkm.2	-	2	420	c.179G>A	c.(178-180)CGC>CAC	p.R60H	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CGGAATCTGGCGTCTGGCTCG	0.413													T	85431290	C	T	85431290	3	4	191	1	0	0	0	0	1	0	0	0	9396	768	27	1	1573	1	MCOLN2	1	85431290	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	294815	85431290	163819331	77	103097											
COL24A1	255631	broad.mit.edu	37	chr1	86249817	86249817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttagggcctgggaatccttgGaaacctgtcaaaccttgaac	10	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:86249817G>T	uc001dlj.2	-	50	4242	c.4200C>A	c.(4198-4200)TTC>TTA	p.F1400L	COL24A1_uc001dli.2_Missense_Mutation_p.F536L|COL24A1_uc010osd.1_Missense_Mutation_p.F700L|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1400	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGAATCCTTGGAAACCTGTCA	0.358													T	86249817	G	T	86249817	3	4	191	1	0	0	0	0	1	0	0	0	3683	1165	41	5	988	5	COL24A1	1	86249817	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	818527	86249817	163000804	78	103098											
CLCA4	22802	broad.mit.edu	37	chr1	87026013	87026013	+	Frame_Shift_Del	DEL	A	A	-													acccctgaccttctacttggAaaaaaacaaaatgaatatgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:87026012_87026012GA>G	uc009wcs.3	+	2	463	c.419_419GA>G	c.(418-420)ggafs	p.G140fs	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	140						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)		CTTCTACTTGGAAAAAAACAA	0.398													-	87026013	A	-	87026013	7	5	191	1	0	1	0	1	0	0	0	0	3459	233	9	0	430	0	CLCA4	1	87026013	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	776196	87026013	162224608	79	103099											
CLCA4	22802	broad.mit.edu	37	chr1	87029383	87029383	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgggctcacctccggtgggGagtgtttgatgagtacaatg	16	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:87029383G>C	uc009wcs.2	+	4	532	c.488G>C	c.(487-489)GGA>GCA	p.G163A	CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	163						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTCCGGTGGGGAGTGTTTGAT	0.393													C	87029383	G	C	87029383	3	2	191	1	0	0	0	0	1	0	0	0	3459	1174	41	5	502	5	CLCA4	1	87029383	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3370	87029383	162221238	80	103100											
GBP6	163351	broad.mit.edu	37	chr1	89834233	89834234	+	In_Frame_Ins	INS	-	-	GGC													ctcagccagtggtggtggtgINSgccattgtaggactgtaccg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:89834232_89834233T>TGGC	uc001dnf.2	+	1	396_397	c.122_123T>TGGC	c.(121-123)gtg>gTGGC	p.V41V	GBP6_uc010ost.1_Intron	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	41	Poly-Val.						GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GTGGTGGTGGTGGCCATTGTAG	0.485													GGC	89834234	-	GGC	89834233	7	5	191	1	0	1	1	0	0	0	0	0	6278	1335	47	0	125	0	GBP6	1	89834233	In_Frame_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	2804850	89834233	159416388	81	103101											
LRRC8B	23507	broad.mit.edu	37	chr1	90048284	90048284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttaaaaccatggtgggaCgtcttctggtattacatcac	8	9	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:90048284C>T	uc001dni.2	+	7	582	c.75C>T	c.(73-75)GAC>GAT	p.D25D	LRRC8B_uc001dnh.2_Silent_p.D25D|LRRC8B_uc001dnj.2_Silent_p.D25D	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	25						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CATGGTGGGACGTCTTCTGGT	0.493													T	90048284	C	T	90048284	2	4	191	1	0	0	0	0	0	0	0	1	9022	535	19	1		1	LRRC8B	1	90048284	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	214051	90048284	159202337	82	103102											
ZNF326	284695	broad.mit.edu	37	chr1	90473107	90473107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagcaccttactcccGttcaaaattgaggcctgggt	11	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:90473107G>A	uc001dnq.2	+	5	552	c.413G>A	c.(412-414)CGT>CAT	p.R138H	ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	138	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CCTTACTCCCGTTCAAAATTG	0.502													A	90473107	G	A	90473107	3	1	191	1	0	0	0	0	1	0	0	0	17843	1145	40	1	435	1	ZNF326	1	90473107	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	424823	90473107	158777514	83	103103											
HFM1	164045	broad.mit.edu	37	chr1	91781412	91781412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttgattatctgcgtcacCtatgattaaggtaacatagt	7	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:91781412C>T	uc001doa.3	-	28	3200	c.3100G>A	c.(3100-3102)GGT>AGT	p.G1034S	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.G713S|HFM1_uc001dob.3_Missense_Mutation_p.G222S|HFM1_uc010osv.1_Missense_Mutation_p.G718S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1034	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		TCTGCGTCACCTATGATTAAG	0.313													T	91781412	C	T	91781412	3	4	191	1	0	0	0	0	1	0	0	0	7083	681	24	4	1255	4	HFM1	1	91781412	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1308305	91781412	157469209	84	103104											
HFM1	164045	broad.mit.edu	37	chr1	91843716	91843716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacttcaagagttggaccacGattttcatcttttacaatat	5	8	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:91843716G>A	uc001doa.3	-	11	1361	c.1261C>T	c.(1261-1263)CGT>TGT	p.R421C	HFM1_uc010osu.1_Missense_Mutation_p.R100C|HFM1_uc010osv.1_Missense_Mutation_p.R105C|HFM1_uc001doc.1_Missense_Mutation_p.R421C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	421	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		GTTGGACCACGATTTTCATCT	0.274													A	91843716	G	A	91843716	3	1	191	1	0	0	0	0	1	0	0	0	7083	1058	37	1	3162	1	HFM1	1	91843716	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	62304	91843716	157406905	85	103105											
BRDT	676	broad.mit.edu	37	chr1	92443769	92443769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgcatacaaatttgcGgcagatgttagattaatgtt	10	4	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:92443769G>A	uc001dok.3	+	7	1363	c.1014G>A	c.(1012-1014)GCG>GCA	p.A338A	BRDT_uc001dol.3_Silent_p.A338A|BRDT_uc010osz.1_Silent_p.A342A|BRDT_uc009wdf.2_Silent_p.A265A|BRDT_uc010ota.1_Silent_p.A292A|BRDT_uc010otb.1_Silent_p.A292A|BRDT_uc001dom.3_Silent_p.A338A	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	338	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACAAATTTGCGGCAGATGTTA	0.333													A	92443769	G	A	92443769	2	1	191	1	0	0	0	0	0	0	0	1	1508	1103	39	1		1	BRDT	1	92443769	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	600053	92443769	156806852	86	103106											
BTBD8	284697	broad.mit.edu	37	chr1	92595319	92595319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaagctcccaagagtaCgttactcttcaagggtaagc	10	10	2	2	rs138139110	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:92595319C>T	uc001doo.2	+	5	1005	c.738C>T	c.(736-738)TAC>TAT	p.Y246Y	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	246	BTB 2.					nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCCAAGAGTACGTTACTCTTC	0.413													T	92595319	C	T	92595319	2	4	191	1	0	0	0	0	0	0	0	1	1547	547	19	1		1	BTBD8	1	92595319	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	151550	92595319	156655302	87	103107											
GLMN	11146	broad.mit.edu	37	chr1	92712097	92712097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggaactttcactttatcCcaatattttcttcagaggta	5	8	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:92712097C>T	uc001dor.2	-	19	1890	c.1775G>A	c.(1774-1776)GGG>GAG	p.G592E	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.G578E	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	592					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			skin(1)	1		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)		TCACTTTATCCCAATATTTTC	0.264									Multiple_Glomus_Tumors_(of_the_Skin)_Familial				T	92712097	C	T	92712097	3	4	191	1	0	0	0	0	1	0	0	0	6448	623	22	4	13	4	GLMN	1	92712097	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	116778	92712097	156538524	88	103108											
ABCA4	24	broad.mit.edu	37	chr1	94495142	94495142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggtgatgtttggggaCacagaaggagtcttccaggg	17	6	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:94495142C>T	uc001dqh.2	-	30	4502	c.4398G>A	c.(4396-4398)GTG>GTA	p.V1466V		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1466	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		TGTTTGGGGACACAGAAGGAG	0.512													T	94495142	C	T	94495142	2	4	191	1	0	0	0	0	0	0	0	1	34	465	17	4		4	ABCA4	1	94495142	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1783045	94495142	154755479	89	103109											
LPPR4	9890	broad.mit.edu	37	chr1	99764636	99764636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagctctcattacagataTcatacagctgtccacaggat	6	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:99764636T>C	uc001dse.2	+	4	690	c.584T>C	c.(583-585)ATC>ACC	p.I195T	LPPR4_uc010oue.1_Missense_Mutation_p.I195T	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	195	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		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)		ATTACAGATATCATACAGCTG	0.373													C	99764636	T	C	99764636	3	2	191	1	0	0	0	0	1	0	0	0	8927	1435	50	3	598	3	LPPR4	1	99764636	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	5269494	99764636	149485985	90	103110											
COL11A1	1301	broad.mit.edu	37	chr1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-													ttggccccagatgaaccaggCcccccctatagagaaaaagt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:103474066_103474066GC>G	uc001dum.3	-	14	1990	c.1672_1672GC>C	c.(1672-1674)cctfs	p.P558fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Del_p.P546fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.P507fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.P430fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	546	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)		GATGAACCAGGCCCCCCCTAT	0.368													-	103474067	C	-	103474067	7	5	191	1	0	1	0	1	0	0	0	0	3667	726	26	0	3997	0	COL11A1	1	103474067	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	3709431	103474067	145776554	91	103111											
COL11A1	1301	broad.mit.edu	37	chr1	103540339	103540339	+	Splice_Site	DEL	A	A	-													attgctacccgatgccacctAaaaaagacaagtaattcttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:103540338_103540338TA>T	uc001dum.3	-	4	807	c.489_splice	c.e4-1	p.K163_splice	COL11A1_uc001dul.3_Splice_Site_p.K163_splice|COL11A1_uc001dun.3_Splice_Site_p.K163_splice|COL11A1_uc009weh.3_Splice_Site_p.K163_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	163	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)		CGATGCCACCTAAAAAAGACA	0.358													-	103540339	A	-	103540339	8	5	191	1	0	1	0	1	0	0	1	0	3667	377	13	0		0	COL11A1	1	103540339	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	66272	103540339	145710282	92	103112											
AKNAD1	254268	broad.mit.edu	37	chr1	109369851	109369851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaatctgagtgtggtgCcttttcatgaaggacaattg	12	5	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109369851C>T	uc001dwa.2	-	11	2181	c.1912G>A	c.(1912-1914)GCA>ACA	p.A638T	AKNAD1_uc010ovb.1_Missense_Mutation_p.A345T|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	638										ovary(3)	3						GAGTGTGGTGCCTTTTCATGA	0.483													T	109369851	C	T	109369851	3	4	191	1	0	0	0	0	1	0	0	0	464	739	26	2	622	2	AKNAD1	1	109369851	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5829512	109369851	139880770	93	103113											
AKNAD1	254268	broad.mit.edu	37	chr1	109377583	109377583	+	Frame_Shift_Del	DEL	G	G	-													agctcacagagctcctcgttGggggcctcctgcggccctcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109377582_109377582TG>T	uc001dwa.3	-	7	1902	c.1633_1633CA>A	c.(1633-1635)aacfs	p.N545fs	AKNAD1_uc010ovb.2_Frame_Shift_Del_p.N252fs|AKNAD1_uc001dwb.3_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	545										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTCCTCGTTGGGGGCCTCC	0.662													-	109377583	G	-	109377583	7	5	191	1	0	1	0	1	0	0	0	0	464	1335	47	0	914	0	AKNAD1	1	109377583	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	7732	109377583	139873038	94	103114											
PSRC1	84722	broad.mit.edu	37	chr1	109823609	109823609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcggccggggcaggcGttgagagttgctggtagaag	18	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109823609G>A	uc001dxg.2	-	5	906	c.784C>T	c.(784-786)CGC>TGC	p.R262C	PSRC1_uc001dxb.2_Missense_Mutation_p.R62C|PSRC1_uc001dxc.2_Missense_Mutation_p.R232C|PSRC1_uc001dxd.2_Missense_Mutation_p.R232C|PSRC1_uc001dxe.2_Missense_Mutation_p.R232C|PSRC1_uc001dxf.2_Intron|PSRC1_uc001dxh.2_Missense_Mutation_p.R232C|PSRC1_uc001dxi.2_Missense_Mutation_p.R232C|PSRC1_uc001dxj.2_Missense_Mutation_p.R262C	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1 isoform c	262	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding				0		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CGGGGCAGGCGTTGAGAGTTG	0.632													A	109823609	G	A	109823609	3	1	191	1	0	0	0	0	1	0	0	0	12719	1145	40	1	351	1	PSRC1	1	109823609	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	446026	109823609	139427012	95	103115											
MYBPHL	343263	broad.mit.edu	37	chr1	109840109	109840109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacgcggagttggtagCgacctgagtcagcacgttgg	16	10	1	1	rs143926262		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109840109C>T	uc001dxk.1	-	3	415	c.365G>A	c.(364-366)CGC>CAC	p.R122H	MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	122	Ig-like C2-type 1.									ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		GAGTTGGTAGCGACCTGAGTC	0.617													T	109840109	C	T	109840109	3	4	191	1	0	0	0	0	1	0	0	0	10015	768	27	1	723	1	MYBPHL	1	109840109	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	16500	109840109	139410512	96	103116											
ATXN7L2	127002	broad.mit.edu	37	chr1	110032913	110032913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcacctttgggagccgGctggtgagcccaggatgcta	14	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110032913G>A	uc001dxr.2	+	9	1272	c.1257G>A	c.(1255-1257)CGG>CGA	p.R419R	ATXN7L2_uc001dxs.2_Silent_p.R46R|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	419										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGGGAGCCGGCTGGTGAGCC	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	110032913	G	A	110032913	2	1	191	1	0	0	0	0	0	0	0	1	1217	1190	42	2		2	ATXN7L2	1	110032913	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	192804	110032913	139217708	97	103117											
GNAI3	2773	broad.mit.edu	37	chr1	110129408	110129408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaataacaaatggtttAcagaaacttcaatcattctc	4	7	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110129408A>G	uc001dxz.2	+	7	935	c.778A>G	c.(778-780)ACA>GCA	p.T260A		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	260					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		CAAATGGTTTACAGAAACTTC	0.328													G	110129408	A	G	110129408	3	3	191	1	0	0	0	0	1	0	0	0	6506	391	14	3	804	3	GNAI3	1	110129408	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	96495	110129408	139121213	98	103118											
AMPD2	271	broad.mit.edu	37	chr1	110167985	110167985	+	Frame_Shift_Del	DEL	C	C	-													ccgatccctgccgggccccgCcccctgcctcaagcacttcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110167984_110167984GC>G	uc009wfh.1	+	2	855	c.313_313GC>G	c.(313-315)gccfs	p.A105fs	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Frame_Shift_Del_p.A24fs|AMPD2_uc001dyc.1_Frame_Shift_Del_p.A105fs|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	105					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)		GCCGGGCCCCGCCCCCTGCCT	0.672													-	110167985	C	-	110167985	7	5	191	1	0	1	0	1	0	0	0	0	586	739	26	0	334	0	AMPD2	1	110167985	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	38577	110167985	139082636	99	103119											
SLC6A17	388662	broad.mit.edu	37	chr1	110737297	110737297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcatgttcttcttgatgCttatcaacctgggcctgggc	10	12	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110737297C>T	uc009wfq.2	+	9	1857	c.1396C>T	c.(1396-1398)CTT>TTT	p.L466F	SLC6A17_uc001dze.1_Missense_Mutation_p.L64F	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	466	Helical; Name=8; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		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)		CTTCTTGATGCTTATCAACCT	0.587													T	110737297	C	T	110737297	3	4	191	1	0	0	0	0	1	0	0	0	14680	797	28	2	1426	2	SLC6A17	1	110737297	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	569312	110737297	138513324	100	103120											
KCNC4	3749	broad.mit.edu	37	chr1	110765858	110765858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaacctgctcaacatcatCgactttgtggccatcctgcc	7	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110765858C>T	uc001dzh.2	+	2	1008	c.951C>T	c.(949-951)ATC>ATT	p.I317I	KCNC4_uc001dzf.2_Silent_p.I317I|KCNC4_uc009wfr.2_Silent_p.I317I|KCNC4_uc001dzg.2_Silent_p.I317I|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	317	Helical; Name=Segment S3; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCAACATCATCGACTTTGTGG	0.627													T	110765858	C	T	110765858	2	4	191	1	0	0	0	0	0	0	0	1	8017	874	31	1		1	KCNC4	1	110765858	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	28561	110765858	138484763	101	103121											
KCNA2	3737	broad.mit.edu	37	chr1	111146620	111146620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaagtaggggatgatgGccacaatgtcaatgatgttc	13	5	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:111146620G>A	uc001dzu.2	-	2	1281	c.785C>T	c.(784-786)GCC>GTC	p.A262V	KCNA2_uc009wfv.1_Missense_Mutation_p.A262V|KCNA2_uc009wfw.2_Missense_Mutation_p.A262V	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	262	Helical; Name=Segment S3; (Potential).					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		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)		GGGGATGATGGCCACAATGTC	0.532													A	111146620	G	A	111146620	3	1	191	1	0	0	0	0	1	0	0	0	8003	1203	42	2	718	2	KCNA2	1	111146620	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	380762	111146620	138104001	102	103122											
BCAS2	10286	broad.mit.edu	37	chr1	115118337	115118337	+	Frame_Shift_Del	DEL	T	T	-													cttgccatgcagtaatgtcaTttttttgaccagaggagggg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:115118336_115118336AT>A	uc001efa.3	-	3	347	c.294_294AT>T	c.(292-294)aatfs	p.N98fs	DENND2C_uc001eez.3_Non-coding_Transcript	NM_005872	NP_005863	O75934	SPF27_HUMAN	Homo sapiens breast carcinoma amplified sequence 2 (BCAS2), mRNA.	98					RNA splicing, via transesterification reactions|mRNA processing	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)		CAGTAATGTCATTTTTTTGAC	0.378													-	115118337	T	-	115118337	7	5	191	1	0	1	0	1	0	0	0	0	1351	1493	52	0	400	0	BCAS2	1	115118337	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	3971717	115118337	134132284	103	103123											
SYCP1	6847	broad.mit.edu	37	chr1	115430252	115430252	+	Frame_Shift_Del	DEL	A	A	-													gatatattttacaagattggAaaaaaatgaagatcaattga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:115430251_115430251GA>G	uc001efr.3	+	14	1404	c.1195_1195GA>G	c.(1195-1197)gaafs	p.E399fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.E399fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.E399fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	399					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)		TACAAGATTGGAAAAAAATGA	0.264													-	115430252	A	-	115430252	7	5	191	1	0	1	0	1	0	0	0	0	15428	246	9	0	1250	0	SYCP1	1	115430252	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	311915	115430252	133820369	104	103124											
IGSF3	3321	broad.mit.edu	37	chr1	117122210	117122210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgccctcccaaggactGccctctgggccaaagacagc	10	17	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:117122210G>A	uc001egr.1	-	10	3843	c.3138C>T	c.(3136-3138)GGC>GGT	p.G1046G	IGSF3_uc001egq.1_Silent_p.G1066G	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1046	Ig-like C2-type 8.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		CCCAAGGACTGCCCTCTGGGC	0.507													A	117122210	G	A	117122210	2	1	191	1	0	0	0	0	0	0	0	1	7601	1306	46	2		2	IGSF3	1	117122210	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1691958	117122210	132128411	105	103125											
IGSF3	3321	broad.mit.edu	37	chr1	117156664	117156664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctcgccaactttctgCcggagccaggccacagacag	11	15	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:117156664C>T	uc001egr.1	-	4	1260	c.555G>A	c.(553-555)CGG>CGA	p.R185R	IGSF3_uc001egq.1_Silent_p.R185R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	185	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		CAACTTTCTGCCGGAGCCAGG	0.612													T	117156664	C	T	117156664	2	4	191	1	0	0	0	0	0	0	0	1	7601	726	26	2		2	IGSF3	1	117156664	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	34454	117156664	132093957	106	103126											
SPAG17	200162	broad.mit.edu	37	chr1	118527387	118527387	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatccattaggtaattctgTgttgtctcaatttccttcct	5	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:118527387T>G	uc001ehk.2	-	41	5756	c.5688A>C	c.(5686-5688)ACA>ACC	p.T1896T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1896	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		GGTAATTCTGTGTTGTCTCAA	0.323													G	118527387	T	G	118527387	2	3	191	1	0	0	0	0	0	0	0	1	14979	1683	59	5		5	SPAG17	1	118527387	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1370723	118527387	130723234	107	103127											
WARS2	10352	broad.mit.edu	37	chr1	119575832	119575832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccgggtcataggtgAcctccgaggtgaagtctgtc	15	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:119575832A>G	uc001ehn.2	-	6	813	c.785T>C	c.(784-786)GTC>GCC	p.V262A	WARS2_uc010oxf.1_Missense_Mutation_p.V168A|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.V205A|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	262					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	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)	GTCATAGGTGACCTCCGAGGT	0.617													G	119575832	A	G	119575832	3	3	191	1	0	0	0	0	1	0	0	0	17247	275	10	3	301	3	WARS2	1	119575832	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1048445	119575832	129674789	108	103128											
NOTCH2	4853	broad.mit.edu	37	chr1	120462059	120462059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcagcccgtgagtagCgggctgcaaggtgcagggcc	16	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:120462059C>T	uc001eik.2	-	31	5913	c.5657G>A	c.(5656-5658)CGC>CAC	p.R1886H		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1886	Cytoplasmic (Potential).|ANK 2.				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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		CCGTGAGTAGCGGGCTGCAAG	0.607			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120462059	C	T	120462059	3	4	191	1	0	0	0	0	1	0	0	0	10548	768	27	1	1774	1	NOTCH2	1	120462059	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	886227	120462059	128788562	109	103129											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882530	144882530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcacattcccctcctcTtggtgttggtgcttcccagg	9	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:144882530T>C	uc001elw.3	-	24	3780	c.3489A>G	c.(3487-3489)CAA>CAG	p.Q1163Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.Q170Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1163					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCCTCCTCTTGGTGTTGGT	0.522			T	PDGFRB	MPD								C	144882530	T	C	144882530	2	2	191	1	0	0	0	0	0	0	0	1	11643	1606	56	3		3	PDE4DIP	1	144882530	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	24420471	144882530	104368091	110	103130											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474257	145474258	+	Frame_Shift_Del	DEL	CT	CT	-													gaaagtgactagcgggggtcCtctctctcgccgaaacacag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:145474256_145474257CCT>C	uc021ouy.1	+	0	928_929	c.928_929CCT>C	c.(928-930)cctfs	p.P310fs	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Frame_Shift_Del_p.P310fs	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	310	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCGGGGGTCCTCTCTCTCGC	0.649													-	145474258	CT	-	145474257	7	5	191	1	0	1	0	1	0	0	0	0	662	681	24	0	931	0	ANKRD34A	1	145474257	Frame_Shift_Del	DEL	CT	TCGA-CG-5723-01A-11D-1600-08	591727	145474257	103776364	111	103131											
BCL9	607	broad.mit.edu	37	chr1	147091961	147091961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgattccaggctcccagcGccacatggagcctgggaata	12	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:147091961G>A	uc001epq.2	+	8	2740	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	BCL9_uc010ozr.1_Missense_Mutation_p.R593H	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	667	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GGCTCCCAGCGCCACATGGAG	0.572			T	IGH@|IGL@	B-ALL								A	147091961	G	A	147091961	3	1	191	1	0	0	0	0	1	0	0	0	1381	1087	38	1	2018	1	BCL9	1	147091961	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1617704	147091961	102158660	112	103132											
NBPF15	284565	broad.mit.edu	37	chr1	148594462	148594462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactcactggatagatgttAttcgactccgtcaatgtact	9	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:148594462A>G	uc001esc.2	+	19	2324	c.1835A>G	c.(1834-1836)TAT>TGT	p.Y612C		NM_173638	NP_775909	Q8N660	NBPFF_HUMAN	hypothetical protein LOC284565	612	NBPF 6.					cytoplasm					0	all_hematologic(923;0.032)					GATAGATGTTATTCGACTCCG	0.458													G	148594462	A	G	148594462	3	3	191	1	0	0	0	0	1	0	0	0	10195	449	16	3	1893	3	NBPF15	1	148594462	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1502501	148594462	100656159	113	103133											
PLEKHO1	51177	broad.mit.edu	37	chr1	150128314	150128314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgagtgactatgagaagTgtgaagagctccggaagtcc	13	8	0	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:150128314T>C	uc001ett.2	+	3	510	c.232T>C	c.(232-234)TGT>CGT	p.C78R	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	78	PH.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|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)			CTATGAGAAGTGTGAAGAGCT	0.448													C	150128314	T	C	150128314	3	2	191	1	0	0	0	0	1	0	0	0	12084	1696	59	3	242	3	PLEKHO1	1	150128314	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1533852	150128314	99122307	114	103134											
SEMA6C	10500	broad.mit.edu	37	chr1	151109008	151109008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttgccctcaaacccaCgctcaatctcatccaggtag	6	15	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:151109008C>T	uc001ewu.2	-	12	1322	c.1022G>A	c.(1021-1023)CGT>CAT	p.R341H	SEMA6C_uc001ewv.2_Missense_Mutation_p.R341H|SEMA6C_uc001eww.2_Missense_Mutation_p.R301H|SEMA6C_uc010pcq.1_Missense_Mutation_p.R341H	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	341	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			CTCAAACCCACGCTCAATCTC	0.562													T	151109008	C	T	151109008	3	4	191	1	0	0	0	0	1	0	0	0	14041	536	19	1	1902	1	SEMA6C	1	151109008	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	980694	151109008	98141613	115	103135											
ZNF687	57592	broad.mit.edu	37	chr1	151261869	151261869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggctgatctacaagtgCgccatgtgcgacacagtctt	10	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:151261869C>T	uc001exq.2	+	5	2585	c.2487C>T	c.(2485-2487)TGC>TGT	p.C829C	ZNF687_uc009wmo.2_Silent_p.C829C|ZNF687_uc009wmp.2_Silent_p.C829C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	829	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			TCTACAAGTGCGCCATGTGCG	0.612													T	151261869	C	T	151261869	2	4	191	1	0	0	0	0	0	0	0	1	18089	776	27	1		1	ZNF687	1	151261869	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	152861	151261869	97988752	116	103136											
HRNR	388697	broad.mit.edu	37	chr1	152192304	152192304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgacccgagctagatcCgtgttgaccgtagccagagg	14	10	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:152192304C>T	uc001ezt.1	-	3	1877	c.1801G>A	c.(1801-1803)GGA>AGA	p.G601R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	601	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGATCCGTGTTGACCG	0.552													T	152192304	C	T	152192304	3	4	191	1	0	0	0	0	1	0	0	0	7359	661	23	1	6755	1	HRNR	1	152192304	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	930435	152192304	97058317	117	103137											
CRNN	49860	broad.mit.edu	37	chr1	152382676	152382676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggtgggtgtctgggtGtgtgtccctgcctgtatctg	17	8	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:152382676G>A	uc001ezx.2	-	3	956	c.882C>T	c.(880-882)CAC>CAT	p.H294H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	294	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGGTGTGTGTCCCTG	0.607													A	152382676	G	A	152382676	2	1	191	1	0	0	0	0	0	0	0	1	3892	1368	48	4		4	CRNN	1	152382676	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	190372	152382676	96867945	118	103138											
DENND4B	9909	broad.mit.edu	37	chr1	153910311	153910311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagctccactaagggtgtcGgctcaggcttctcctgctct	10	14	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:153910311G>A	uc001fdd.1	-	14	2395	c.1994C>T	c.(1993-1995)CCG>CTG	p.P665L		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	665										ovary(1)	1	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)			TAAGGGTGTCGGCTCAGGCTT	0.552													A	153910311	G	A	153910311	3	1	191	1	0	0	0	0	1	0	0	0	4434	1116	39	1	2556	1	DENND4B	1	153910311	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1527635	153910311	95340310	119	103139											
ADAR	103	broad.mit.edu	37	chr1	154574993	154574993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagaaattctatttgcTtaagcaggaaactactgggg	10	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:154574993T>C	uc001ffh.2	-	2	325	c.125A>G	c.(124-126)AAG>AGG	p.K42R	ADAR_uc001ffj.2_Missense_Mutation_p.K42R|ADAR_uc001ffi.2_Missense_Mutation_p.K42R|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_RNA|ADAR_uc001ffn.1_Missense_Mutation_p.K42R	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	42					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			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)		TTCTATTTGCTTAAGCAGGAA	0.547													C	154574993	T	C	154574993	3	2	191	1	0	0	0	0	1	0	0	0	281	1609	56	3	3611	3	ADAR	1	154574993	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	664682	154574993	94675628	120	103140											
TRIM46	80128	broad.mit.edu	37	chr1	155152112	155152112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcttccaacagtgccTgaggcccccgtcattgacac	8	16	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:155152112T>C	uc001fhs.1	+	8	1373	c.1290T>C	c.(1288-1290)CCT>CCC	p.P430P	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.P430P|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.P304P|TRIM46_uc001fhu.1_Silent_p.P407P|TRIM46_uc009wpg.1_Silent_p.P417P|TRIM46_uc001fhv.3_Silent_p.P417P|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	430	Fibronectin type-III.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAACAGTGCCTGAGGCCCCCG	0.642													C	155152112	T	C	155152112	2	2	191	1	0	0	0	0	0	0	0	1	16518	1567	55	3		3	TRIM46	1	155152112	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	577119	155152112	94098509	121	103141											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920909	155920909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttgccgctgcagtaatGccagttccgtggcctgcttt	11	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:155920909G>A	uc001fmt.2	-	20	2532	c.2414C>T	c.(2413-2415)GCA>GTA	p.A805V	ARHGEF2_uc001fmq.2_Missense_Mutation_p.A43V|ARHGEF2_uc001fmr.2_Missense_Mutation_p.A777V|ARHGEF2_uc001fms.2_Missense_Mutation_p.A804V|ARHGEF2_uc001fmu.2_Missense_Mutation_p.A849V	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	805	Potential.				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			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCAGTAATGCCAGTTCCGT	0.687													A	155920909	G	A	155920909	3	1	191	1	0	0	0	0	1	0	0	0	903	1319	46	2	558	2	ARHGEF2	1	155920909	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	768797	155920909	93329712	122	103142											
MEX3A	92312	broad.mit.edu	37	chr1	156047125	156047125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcacccgtgatctcgAacacggggtcgcggtcacgg	16	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:156047125A>G	uc001fnd.3	-	2	803	c.803T>C	c.(802-804)TTC>TCC	p.F268S		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	268	KH 2.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGTGATCTCGAACACGGGGTC	0.607													G	156047125	A	G	156047125	3	3	191	1	0	0	0	0	1	0	0	0	9509	246	9	3	763	3	MEX3A	1	156047125	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	126216	156047125	93203496	123	103143											
HAPLN2	60484	broad.mit.edu	37	chr1	156593354	156593354	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccatcttccacaaagcCcaaggagacccaggtaagac	7	14	2	2	rs138640704	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:156593354C>A	uc001fpn.1	+	3	479	c.72C>A	c.(70-72)GCC>GCA	p.A24A	HAPLN2_uc010phq.1_Silent_p.A24A	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	24					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCACAAAGCCCAAGGAGACC	0.622													A	156593354	C	A	156593354	2	1	191	1	0	0	0	0	0	0	0	1	6955	610	22	5		5	HAPLN2	1	156593354	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	546229	156593354	92657267	124	103144											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917127	156917127	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagttcaggcaggttcggGaagagccgggccagctcctc	15	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:156917127G>A	uc001fqo.2	-	25	3377	c.2337C>T	c.(2335-2337)TTC>TTT	p.F779F	ARHGEF11_uc010phu.1_Silent_p.F195F|ARHGEF11_uc001fqn.2_Silent_p.F819F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	779	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGGTTCGGGAAGAGCCGGG	0.587													A	156917127	G	A	156917127	2	1	191	1	0	0	0	0	0	0	0	1	896	1165	41	4		4	ARHGEF11	1	156917127	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	323773	156917127	92333494	125	103145											
FCRL3	115352	broad.mit.edu	37	chr1	157665908	157665908	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagtagtatctccctgcatCactctccttcacggtgagaa	7	13	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:157665908C>T	uc001frb.2	-	7	1346	c.1054G>A	c.(1054-1056)GAT>AAT	p.D352N	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D352N|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.D78N|FCRL3_uc001frc.1_Missense_Mutation_p.D352N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	352	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CTCCCTGCATCACTCTCCTTC	0.512													T	157665908	C	T	157665908	3	4	191	1	0	0	0	0	1	0	0	0	5796	826	29	4	1186	4	FCRL3	1	157665908	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	748781	157665908	91584713	126	103146											
KIRREL	55243	broad.mit.edu	37	chr1	158061243	158061243	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtggggtgctatccacgctCaccatcaacaatgtcatgga	10	11	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:158061243C>T	uc001frn.3	+	11	1772	c.1368C>T	c.(1366-1368)CTC>CTT	p.L456L	KIRREL_uc010pib.1_Silent_p.L356L|KIRREL_uc009wsq.2_Silent_p.L292L|KIRREL_uc001fro.3_Silent_p.L270L	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	456	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					TATCCACGCTCACCATCAACA	0.577													T	158061243	C	T	158061243	2	4	191	1	0	0	0	0	0	0	0	1	8324	813	29	4		4	KIRREL	1	158061243	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	395335	158061243	91189378	127	103147											
SLAMF8	56833	broad.mit.edu	37	chr1	159796723	159796723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggagtctgcttctctGggaaggtaagtggggcaggc	17	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159796723G>T	uc001fue.3	+	1	245	c.35G>T	c.(34-36)TGG>TTG	p.W12L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	12						integral to membrane					0	all_hematologic(112;0.0597)					CTGCTTCTCTGGGAAGGTAAG	0.612													T	159796723	G	T	159796723	3	4	191	1	0	0	0	0	1	0	0	0	14370	1357	47	5	37	5	SLAMF8	1	159796723	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1735480	159796723	89453898	128	103148											
SLAMF8	56833	broad.mit.edu	37	chr1	159799686	159799686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattacagttactggtgcccAagtgctgagcaaagtcgggg	13	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159799686A>G	uc001fue.3	+	2	281	c.71A>G	c.(70-72)CAA>CGA	p.Q24R		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	24	Extracellular (Potential).					integral to membrane					0	all_hematologic(112;0.0597)					ACTGGTGCCCAAGTGCTGAGC	0.587													G	159799686	A	G	159799686	3	3	191	1	0	0	0	0	1	0	0	0	14370	130	5	3	77	3	SLAMF8	1	159799686	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2963	159799686	89450935	129	103149											
CCDC19	25790	broad.mit.edu	37	chr1	159842872	159842872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggttctcgcgcacctggCgccggagctcattggcatgc	14	14	2	0	rs147644439		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159842872C>T	uc001fui.2	-	11	1457	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R395H|CCDC19_uc001ful.2_Missense_Mutation_p.R395H	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	480	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCACCTGGCGCCGGAGCTC	0.617													T	159842872	C	T	159842872	3	4	191	1	0	0	0	0	1	0	0	0	2795	768	27	1	224	1	CCDC19	1	159842872	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	43186	159842872	89407749	130	103150											
TAGLN2	8407	broad.mit.edu	37	chr1	159889527	159889527	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgcttgcaggaactgagaGatctgctccatctgcttgaa	11	10	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159889527G>A	uc001fum.1	-	2	329	c.279C>T	c.(277-279)ATC>ATT	p.I93I	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.I93I|TAGLN2_uc001fuo.1_Silent_p.I93I|TAGLN2_uc010piy.1_3'UTR	NM_003564	NP_003555	P37802	TAGL2_HUMAN	transgelin 2	93	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAACTGAGAGATCTGCTCCA	0.562													A	159889527	G	A	159889527	2	1	191	1	0	0	0	0	0	0	0	1	15536	932	33	4		4	TAGLN2	1	159889527	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	46655	159889527	89361094	131	103151											
ATP1A2	477	broad.mit.edu	37	chr1	160091015	160091015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccttggatgagctgggcCgcaaataccaagtggacctg	13	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:160091015C>T	uc001fvc.2	+	3	283	c.151C>T	c.(151-153)CGC>TGC	p.R51C	ATP1A2_uc001fvb.2_Missense_Mutation_p.R51C|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	51	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			TGAGCTGGGCCGCAAATACCA	0.453													T	160091015	C	T	160091015	3	4	191	1	0	0	0	0	1	0	0	0	1129	652	23	1	161	1	ATP1A2	1	160091015	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	201488	160091015	89159606	132	103152											
ATP1A2	477	broad.mit.edu	37	chr1	160104956	160104956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaaggcatgcgtggtGcacggctctgacctgaagga	15	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:160104956G>A	uc001fvc.2	+	15	2118	c.1986G>A	c.(1984-1986)GTG>GTA	p.V662V	ATP1A2_uc001fvb.2_Silent_p.V662V|ATP1A2_uc001fvd.2_Silent_p.V398V	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	662	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			CATGCGTGGTGCACGGCTCTG	0.602													A	160104956	G	A	160104956	2	1	191	1	0	0	0	0	0	0	0	1	1129	1306	46	2		2	ATP1A2	1	160104956	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	13941	160104956	89145665	133	103153											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163532	161163532	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcctcgtgcagtctcGggaggagaactggacaccac	14	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:161163532G>T	uc001fyt.3	-	6	2061	c.1633C>A	c.(1633-1635)CGA>AGA	p.R545R		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	545	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGCAGTCTCGGGAGGAGAAC	0.637													T	161163532	G	T	161163532	2	4	191	1	0	0	0	0	0	0	0	1	268	1124	39	5		5	ADAMTS4	1	161163532	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1058576	161163532	88087089	134	103154											
SDHC	6391	broad.mit.edu	37	chr1	161298208	161298208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcctttgggaaccacgGccaaagaagagatggagcgg	14	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:161298208G>A	uc001gag.2	+	3	130	c.100G>A	c.(100-102)GCC>ACC	p.A34T	SDHC_uc001gai.2_Missense_Mutation_p.A34T|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C	34	Mitochondrial matrix (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	GGGAACCACGGCCAAAGAAGA	0.388			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				A	161298208	G	A	161298208	3	1	191	1	0	0	0	0	1	0	0	0	13966	1203	42	2	110	2	SDHC	1	161298208	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	134676	161298208	87952413	135	103155											
OLFML2B	25903	broad.mit.edu	37	chr1	161969979	161969979	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccggatgacagtgggctgGgaggccggccggcctctcag	17	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:161969979G>T	uc001gbu.2	-	5	1297	c.873C>A	c.(871-873)TCC>TCA	p.S291S	OLFML2B_uc010pkq.1_Silent_p.S292S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	291										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAGTGGGCTGGGAGGCCGGCC	0.612													T	161969979	G	T	161969979	2	4	191	1	0	0	0	0	0	0	0	1	10858	1219	43	5		5	OLFML2B	1	161969979	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	671771	161969979	87280642	136	103156											
DUSP27	92235	broad.mit.edu	37	chr1	167097443	167097443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagttctccaggtccacGtacaacgagacctcaagttc	7	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:167097443G>A	uc001geb.1	+	5	3075	c.3075G>A	c.(3073-3075)ACG>ACA	p.T1025T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1025	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CCAGGTCCACGTACAACGAGA	0.567													A	167097443	G	A	167097443	2	1	191	1	0	0	0	0	0	0	0	1	4824	1132	40	1		1	DUSP27	1	167097443	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5127464	167097443	82153178	137	103157											
GPR161	23432	broad.mit.edu	37	chr1	168054869	168054870	+	Frame_Shift_Ins	INS	-	-	C													tcggcggcccccgaagccgcINScccccgggacagtccgtgct					rs147976800	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168054868_168054869G>GC	uc010pln.2	-	6	2084_2085	c.1550_1551C>GC	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Ins_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Ins_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Ins_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Ins_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Ins_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Ins_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G497fs*13(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGAC	0.584													C	168054870	-	C	168054869	7	5	191	1	0	1	1	0	0	0	0	0	6665	739	26	0	103	0	GPR161	1	168054869	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	957426	168054869	81195752	138	103158											
GPR161	23432	broad.mit.edu	37	chr1	168059836	168059836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgaagccagtgtccccCgtgctgctgctgtgccccag	12	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168059836C>T	uc001gfc.2	-	6	1484	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	GPR161_uc001gfb.2_Silent_p.T258T|GPR161_uc010pll.1_Silent_p.T300T|GPR161_uc010plm.1_Silent_p.T276T|GPR161_uc009wvo.2_Silent_p.T407T|GPR161_uc001gfd.2_Silent_p.T390T|GPR161_uc010pln.1_Silent_p.T410T|GPR161_uc001gfe.1_Silent_p.T390T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	390	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					CAGTGTCCCCCGTGCTGCTGC	0.587													T	168059836	C	T	168059836	2	4	191	1	0	0	0	0	0	0	0	1	6665	639	23	1		1	GPR161	1	168059836	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4967	168059836	81190785	139	103159											
TBX19	9095	broad.mit.edu	37	chr1	168262443	168262443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtgcgtgttggaagtgCccatcgaatggtaacaaact	11	8	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168262443C>T	uc001gfl.2	+	3	581	c.530C>T	c.(529-531)GCC>GTC	p.A177V	TBX19_uc001gfj.3_Missense_Mutation_p.A108V	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	177	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					GTTGGAAGTGCCCATCGAATG	0.408													T	168262443	C	T	168262443	3	4	191	1	0	0	0	0	1	0	0	0	15651	739	26	2	540	2	TBX19	1	168262443	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	202607	168262443	80988178	140	103160											
XCL1	6375	broad.mit.edu	37	chr1	168550351	168550351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccacatgggtgagagacGtggtcaggagcatggacagg	17	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168550351G>A	uc001gfo.1	+	3	258	c.238G>A	c.(238-240)GTG>ATG	p.V80M		NM_002995	NP_002986	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	80					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity				0	all_hematologic(923;0.208)					GGTGAGAGACGTGGTCAGGAG	0.473													A	168550351	G	A	168550351	3	1	191	1	0	0	0	0	1	0	0	0	17420	1145	40	1	248	1	XCL1	1	168550351	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	287908	168550351	80700270	141	103161											
FMO1	2326	broad.mit.edu	37	chr1	171254496	171254496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcccatgctcaccatAccagttccgcttgactggcc	8	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:171254496A>G	uc009wvz.2	+	9	1548	c.1412A>G	c.(1411-1413)TAC>TGC	p.Y471C	FMO1_uc010pme.1_Missense_Mutation_p.Y408C|FMO1_uc001ghl.2_Missense_Mutation_p.Y471C|FMO1_uc001ghm.2_Missense_Mutation_p.Y471C|FMO1_uc001ghn.2_3'UTR	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	471					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			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTCACCATACCAGTTCCGC	0.502													G	171254496	A	G	171254496	3	3	191	1	0	0	0	0	1	0	0	0	5954	391	14	3	1442	3	FMO1	1	171254496	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2704145	171254496	77996125	142	103162											
C1orf9	51430	broad.mit.edu	37	chr1	172520731	172520731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctcaagatgacaactgcGcactagaaaatgaagatgta	8	8	1	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:172520731G>A	uc001giq.3	+	2	458	c.142G>A	c.(142-144)GCA>ACA	p.A48T	C1orf9_uc010pmm.1_Missense_Mutation_p.A48T|C1orf9_uc009wwd.2_Missense_Mutation_p.A48T|C1orf9_uc010pmn.1_Missense_Mutation_p.A48T|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	48					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TGACAACTGCGCACTAGAAAA	0.398													A	172520731	G	A	172520731	3	1	191	1	0	0	0	0	1	0	0	0	2067	1087	38	1	148	1	C1orf9	1	172520731	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1266235	172520731	76729890	143	103163											
C1orf9	51430	broad.mit.edu	37	chr1	172558904	172558904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagctacagatttttAtgctgaattgcaaaattcta	8	6	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:172558904A>G	uc001giq.3	+	18	2979	c.2663A>G	c.(2662-2664)TAT>TGT	p.Y888C	C1orf9_uc010pmm.1_Missense_Mutation_p.Y888C|C1orf9_uc009wwd.2_Missense_Mutation_p.Y844C|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	888					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ACAGATTTTTATGCTGAATTG	0.363													G	172558904	A	G	172558904	3	3	191	1	0	0	0	0	1	0	0	0	2067	449	16	3	2733	3	C1orf9	1	172558904	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	38173	172558904	76691717	144	103164											
SERPINC1	462	broad.mit.edu	37	chr1	173883880	173883880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgccggttggtggcctcCgggatcttctgttctgagcc	13	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:173883880C>T	uc001gjt.2	-	2	338	c.219G>A	c.(217-219)CCG>CCA	p.P73P		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	73			P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGGTGGCCTCCGGGATCTTCT	0.547											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	173883880	C	T	173883880	2	4	191	1	0	0	0	0	0	0	0	1	14109	639	23	1		1	SERPINC1	1	173883880	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1324976	173883880	75366741	145	103165											
GPR52	9293	broad.mit.edu	37	chr1	174417662	174417662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcttgcatcagtgtggAtcgttatcttgcaataacca	8	9	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:174417662A>G	uc001gka.1	+	1	451	c.413A>G	c.(412-414)GAT>GGT	p.D138G	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	138	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						ATCAGTGTGGATCGTTATCTT	0.423													G	174417662	A	G	174417662	3	3	191	1	0	0	0	0	1	0	0	0	6698	333	12	3	415	3	GPR52	1	174417662	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	533782	174417662	74832959	146	103166											
TNN	63923	broad.mit.edu	37	chr1	175067522	175067522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacagagaatatggccaCggtctcctgggacccggtgc	15	11	1	2	rs144603425	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:175067522C>T	uc001gkl.1	+	9	2023	c.1910C>T	c.(1909-1911)ACG>ATG	p.T637M	TNN_uc010pmx.1_Missense_Mutation_p.T548M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	637	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AATATGGCCACGGTCTCCTGG	0.557													T	175067522	C	T	175067522	3	4	191	1	0	0	0	0	1	0	0	0	16320	536	19	1	1940	1	TNN	1	175067522	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	649860	175067522	74183099	147	103167											
TNN	63923	broad.mit.edu	37	chr1	175096130	175096130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgtccatctgctgtaaCgcagtctggtggcatattga	10	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:175096130C>T	uc001gkl.1	+	13	3067	c.2954C>T	c.(2953-2955)ACG>ATG	p.T985M		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	985	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTGCTGTAACGCAGTCTGGT	0.453													T	175096130	C	T	175096130	3	4	191	1	0	0	0	0	1	0	0	0	16320	536	19	1	3000	1	TNN	1	175096130	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	28608	175096130	74154491	148	103168											
TNR	7143	broad.mit.edu	37	chr1	175334334	175334334	+	Frame_Shift_Del	DEL	G	G	-													taagaatgagtctgtctgctGggggagatggatcactccaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:175334333_175334333TG>T	uc001gkp.1	-	9	2481	c.2400_2400CA>A	c.(2398-2400)ccafs	p.P800fs	TNR_uc009wwu.1_Frame_Shift_Del_p.P800fs	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	800	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)					GTCTGTCTGCTGGGGGAGATG	0.532													-	175334334	G	-	175334334	7	5	191	1	0	1	0	1	0	0	0	0	16335	1348	47	0	1725	0	TNR	1	175334334	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	238204	175334334	73916287	149	103169											
RASAL2	9462	broad.mit.edu	37	chr1	178421675	178421675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgttttctgtgtccaGccattatgtctcccagtctt	6	13	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:178421675G>A	uc001glr.2	+	9	1578	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	RASAL2_uc001glq.2_Missense_Mutation_p.A633T|RASAL2_uc009wxc.2_5'UTR	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	485	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						TCTGTGTCCAGCCATTATGTC	0.488													A	178421675	G	A	178421675	3	1	191	1	0	0	0	0	1	0	0	0	13064	971	34	2	1956	2	RASAL2	1	178421675	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3087341	178421675	70828946	150	103170											
ABL2	27	broad.mit.edu	37	chr1	179078139	179078139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtctttttgattaagcGtggtgtaaagaagcctgtga	12	5	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:179078139G>A	uc001gmj.3	-	12	2550	c.2263C>T	c.(2263-2265)CGC>TGC	p.R755C	ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Missense_Mutation_p.R734C|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Missense_Mutation_p.R740C|ABL2_uc001gmh.3_Missense_Mutation_p.R719C|ABL2_uc010pne.1_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	755	F-actin-binding (By similarity).				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			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGATTAAGCGTGGTGTAAAG	0.532			T	ETV6	AML								A	179078139	G	A	179078139	3	1	191	1	0	0	0	0	1	0	0	0	93	1145	40	1	1289	1	ABL2	1	179078139	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	656464	179078139	70172482	151	103171											
TDRD5	163589	broad.mit.edu	37	chr1	179599928	179599929	+	Frame_Shift_Ins	INS	-	-	A													ttaaagagcaactatcaccaINSaaaaaattaggcttcttaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:179599927_179599928C>CA	uc010pnp.2	+	6	1516_1517	c.998_999C>CA	c.(997-999)ccafs	p.P333fs	TDRD5_uc021pfm.1_Frame_Shift_Ins_p.P333fs|TDRD5_uc001gnf.2_Frame_Shift_Ins_p.P333fs|TDRD5_uc021pfn.1_Frame_Shift_Ins_p.P333fs|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	333	Lotus/OST-HTH 3.				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						CAACTATCACCAAAAAAATTAG	0.337													A	179599929	-	A	179599928	7	5	191	1	0	1	1	0	0	0	0	0	15730	117	5	0	1021	0	TDRD5	1	179599928	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	521789	179599928	69650693	152	103172											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179887298	179887298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccagacaaactgaatgGcctctggagccgtatttctc	10	12	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:179887298G>A	uc001gnq.2	+	10	1894	c.1676G>A	c.(1675-1677)GGC>GAC	p.G559D		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	559	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						AAACTGAATGGCCTCTGGAGC	0.403													A	179887298	G	A	179887298	3	1	191	1	0	0	0	0	1	0	0	0	16369	1203	42	2	1714	2	TOR1AIP1	1	179887298	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	287370	179887298	69363323	153	103173											
LHX4	89884	broad.mit.edu	37	chr1	180241138	180241138	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagtgagctgagcttcCgaggtgagcagggctggagg	19	7	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:180241138C>T	uc001goe.1	+	5	998	c.775C>T	c.(775-777)CGA>TGA	p.R259*	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	259						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R259R(1)		ovary(1)	1						GCTGAGCTTCCGAGGTGAGCA	0.592													T	180241138	C	T	180241138	4	4	191	1	0	0	0	0	0	1	0	0	8773	644	23	1	793	1	LHX4	1	180241138	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	353840	180241138	69009483	154	103174											
STX6	10228	broad.mit.edu	37	chr1	180945745	180945745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagcacaaccaacaggacTgcaaagaggatggctatggc	12	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:180945745T>C	uc010pnq.1	-	8	966	c.729A>G	c.(727-729)GCA>GCG	p.A243A	STX6_uc009wxo.1_5'Flank|STX6_uc001goo.2_Silent_p.A243A|STX6_uc010pnr.1_Silent_p.A142A	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	243	Helical; Anchor for type IV membrane protein; (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						CCAACAGGACTGCAAAGAGGA	0.557													C	180945745	T	C	180945745	2	2	191	1	0	0	0	0	0	0	0	1	15348	1567	55	3		3	STX6	1	180945745	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	704607	180945745	68304876	155	103175											
RNASEL	6041	broad.mit.edu	37	chr1	182550478	182550478	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatttcccacattccgaAgcgtcctatagcggctgaag	8	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:182550478A>C	uc001gpj.1	-	4	1954	c.1787T>G	c.(1786-1788)CTT>CGT	p.L596R	RNASEL_uc009wxz.1_Missense_Mutation_p.L596R|RNASEL_uc001gpk.2_Missense_Mutation_p.L596R	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	596	KEN.				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			ovary(4)|stomach(1)	5						CACATTCCGAAGCGTCCTATA	0.413									Hereditary_Prostate_Cancer				C	182550478	A	C	182550478	3	2	191	1	0	0	0	0	1	0	0	0	13416	72	3	5	450	5	RNASEL	1	182550478	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1604733	182550478	66700143	156	103176											
LAMC2	3918	broad.mit.edu	37	chr1	183212369	183212369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatcaacagccaactgcGgcccatgatgtcagagctgg	11	13	2	3	rs144652590		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:183212369G>A	uc001gqa.2	+	23	3730	c.3416G>A	c.(3415-3417)CGG>CAG	p.R1139Q		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1139	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGCCAACTGCGGCCCATGATG	0.537													A	183212369	G	A	183212369	3	1	191	1	0	0	0	0	1	0	0	0	8615	1116	39	1	3514	1	LAMC2	1	183212369	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	661891	183212369	66038252	157	103177											
NCF2	4688	broad.mit.edu	37	chr1	183538297	183538297	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagatctctggggttttCggtctgggtggaggctcagc	16	8	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:183538297C>T	uc001gqj.3	-	7	968	c.693G>A	c.(691-693)CCG>CCA	p.P231P	NCF2_uc010pod.1_Silent_p.P186P|NCF2_uc010poe.1_Silent_p.P150P|NCF2_uc001gqk.3_Silent_p.P231P	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	231					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						CTGGGGTTTTCGGTCTGGGTG	0.473													T	183538297	C	T	183538297	2	4	191	1	0	0	0	0	0	0	0	1	10217	871	31	1		1	NCF2	1	183538297	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	325928	183538297	65712324	158	103178											
RGL1	23179	broad.mit.edu	37	chr1	183881395	183881395	+	Frame_Shift_Del	DEL	A	A	-													ggacacccctgatgagcctcAaaaaaaggtatatactcaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:183881394_183881394CA>C	uc001gqm.3	+	15	2307	c.1846_1846CA>C	c.(1846-1848)caafs	p.Q616fs	RGL1_uc010pof.1_Frame_Shift_Del_p.Q386fs|RGL1_uc010pog.2_Frame_Shift_Del_p.Q579fs|RGL1_uc010poh.2_Frame_Shift_Del_p.Q579fs|RGL1_uc001gqo.3_Frame_Shift_Del_p.Q581fs|RGL1_uc010poi.2_Frame_Shift_Del_p.Q552fs	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	581					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGATGAGCCTCAAAAAAAGGT	0.488													-	183881395	A	-	183881395	7	5	191	1	0	1	0	1	0	0	0	0	13276	130	5	0	1905	0	RGL1	1	183881395	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	343098	183881395	65369226	159	103179											
RGS1	5996	broad.mit.edu	37	chr1	192545493	192545493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttccaagtccaaggaTgtgtaagtacactaatacac	6	9	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:192545493T>C	uc001gsi.1	+	2	282	c.216T>C	c.(214-216)GAT>GAC	p.D72D	RGS1_uc010pou.1_Silent_p.D72D	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	72					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				AGTCCAAGGATGTGTAAGTAC	0.368													C	192545493	T	C	192545493	2	2	191	1	0	0	0	0	0	0	0	1	13292	1461	51	3		3	RGS1	1	192545493	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	8664098	192545493	56705128	160	103180											
ZBTB41	360023	broad.mit.edu	37	chr1	197145703	197145703	+	Frame_Shift_Del	DEL	T	T	-													atatggtatacctgaatgtaTttttttgtgctttgtaaggt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:197145702_197145702AT>A	uc001gtx.1	-	6	1940	c.1871_1871AT>T	c.(1870-1872)atafs	p.I624fs	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K623E(1)		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						ACCTGAATGTATTTTTTTGTG	0.308													-	197145703	T	-	197145703	7	5	191	1	0	1	0	1	0	0	0	0	17540	1493	52	0	875	0	ZBTB41	1	197145703	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	4600210	197145703	52104918	161	103181											
PTPRC	5788	broad.mit.edu	37	chr1	198711039	198711039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaggtgactcacattcaGttcaccagctggccagacca	10	12	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:198711039G>A	uc001gur.1	+	24	2619	c.2439G>A	c.(2437-2439)CAG>CAA	p.Q813Q	PTPRC_uc001gus.1_Silent_p.Q765Q|PTPRC_uc001gut.1_Silent_p.Q652Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	813	Cytoplasmic (Potential).|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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						CTCACATTCAGTTCACCAGCT	0.418													A	198711039	G	A	198711039	2	1	191	1	0	0	0	0	0	0	0	1	12797	1020	36	4		4	PTPRC	1	198711039	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1565336	198711039	50539582	162	103182											
KIF21B	23046	broad.mit.edu	37	chr1	200968549	200968549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcatcttcatcctcgcGcccttcctcctcctcacagc	4	21	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:200968549G>A	uc001gvs.1	-	13	2130	c.1813C>T	c.(1813-1815)CGC>TGC	p.R605C	KIF21B_uc001gvr.1_Missense_Mutation_p.R605C|KIF21B_uc009wzl.1_Missense_Mutation_p.R605C|KIF21B_uc010ppn.1_Missense_Mutation_p.R605C	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	605					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TCATCCTCGCGCCCTTCCTCC	0.647													A	200968549	G	A	200968549	3	1	191	1	0	0	0	0	1	0	0	0	8289	1087	38	1	3149	1	KIF21B	1	200968549	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2257510	200968549	48282072	163	103183											
NAV1	89796	broad.mit.edu	37	chr1	201750232	201750232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctaaaaaactggagtaCgacagtggtagcctgaagat	11	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:201750232C>T	uc001gwu.2	+	5	1805	c.1458C>T	c.(1456-1458)TAC>TAT	p.Y486Y	NAV1_uc001gwv.1_Translation_Start_Site|NAV1_uc001gww.1_Silent_p.Y95Y|NAV1_uc001gwx.2_Silent_p.Y95Y|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	486					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						AACTGGAGTACGACAGTGGTA	0.512													T	201750232	C	T	201750232	2	4	191	1	0	0	0	0	0	0	0	1	10183	547	19	1		1	NAV1	1	201750232	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	781683	201750232	47500389	164	103184											
NAV1	89796	broad.mit.edu	37	chr1	201779831	201779831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtggagcgctctggccGtgaggtcacagagggcatcg	17	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:201779831G>A	uc001gwu.2	+	23	5080	c.4733G>A	c.(4732-4734)CGT>CAT	p.R1578H	NAV1_uc001gwx.2_Missense_Mutation_p.R1187H	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1581					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CGCTCTGGCCGTGAGGTCACA	0.647													A	201779831	G	A	201779831	3	1	191	1	0	0	0	0	1	0	0	0	10183	1145	40	1	4893	1	NAV1	1	201779831	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	29599	201779831	47470790	165	103185											
TIMM17A	10440	broad.mit.edu	37	chr1	201926647	201926647	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttgttatagggagtaaaCcacagactacgagggagttt	11	5	0	1	rs11555424		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:201926647C>G	uc001gxc.2	+	3	171	c.135C>G	c.(133-135)AAC>AAG	p.N45K		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	45					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						AGGGAGTAAACCACAGACTAC	0.363													G	201926647	C	G	201926647	3	3	191	1	0	0	0	0	1	0	0	0	15905	506	18	5	145	5	TIMM17A	1	201926647	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	146816	201926647	47323974	166	103186											
UBE2T	29089	broad.mit.edu	37	chr1	202304853	202304854	+	Frame_Shift_Del	DEL	CT	CT	-													tctgtggctaacatgtgcagCtctctcttcagacgtgaagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:202304852_202304853GCT>G	uc001gxx.4	-	1	166_167	c.30_31AGC>C	c.(28-33)gagctgfs	p.E10fs		NM_014176	NP_054895	Q9NPD8	UBE2T_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2T (putative) (UBE2T), mRNA.	10					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						AACATGTGCAGCTCTCTCTTCA	0.505													-	202304854	CT	-	202304853	7	5	191	1	0	1	0	1	0	0	0	0	16870	796	28	0	587	0	UBE2T	1	202304853	Frame_Shift_Del	DEL	CT	TCGA-CG-5723-01A-11D-1600-08	378206	202304853	46945768	167	103187											
KDM5B	10765	broad.mit.edu	37	chr1	202710666	202710666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggggtctaggcaagctTgctgcacctcttctagccaa	11	12	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:202710666T>G	uc001gyf.2	-	19	2890	c.2774A>C	c.(2773-2775)CAA>CCA	p.Q925P	KDM5B_uc009xag.2_Missense_Mutation_p.Q961P|KDM5B_uc001gyg.1_Missense_Mutation_p.Q767P	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	925					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			ovary(2)|breast(2)|urinary_tract(1)	5						TAGGCAAGCTTGCTGCACCTC	0.498													G	202710666	T	G	202710666	3	3	191	1	0	0	0	0	1	0	0	0	8134	1812	63	5	1896	5	KDM5B	1	202710666	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	405813	202710666	46539955	168	103188											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821512	203821512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcttgagctatcagaAatgattgatagctgaaggtg	11	6	2	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:203821512A>G	uc001hac.2	+	20	3034	c.2418A>G	c.(2416-2418)GAA>GAG	p.E806E	ZC3H11A_uc001had.2_Silent_p.E806E|ZC3H11A_uc001hae.2_Silent_p.E806E|ZC3H11A_uc001haf.2_Silent_p.E806E|ZC3H11A_uc010pqm.1_Silent_p.E752E	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	806							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCTATCAGAAATGATTGATA	0.383													G	203821512	A	G	203821512	2	3	191	1	0	0	0	0	0	0	0	1	17557	11	1	3		3	ZC3H11A	1	203821512	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1110846	203821512	45429109	169	103189											
SOX13	9580	broad.mit.edu	37	chr1	204091075	204091075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccctgccccagtggtgAagaggcctggggccatggcc	15	16	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:204091075A>G	uc001ham.2	+	8	1418	c.823A>G	c.(823-825)AAG>GAG	p.K275E	SOX13_uc010pqp.1_Missense_Mutation_p.K274E|SOX13_uc010pqq.1_Missense_Mutation_p.K142E	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	275	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCAGTGGTGAAGAGGCCTGG	0.642													G	204091075	A	G	204091075	3	3	191	1	0	0	0	0	1	0	0	0	14944	247	9	3	849	3	SOX13	1	204091075	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	269563	204091075	45159546	170	103190											
GOLT1A	127845	broad.mit.edu	37	chr1	204170877	204170879	+	In_Frame_Del	DEL	GAA	GAA	-													cccttgagtttgtgccgttgGaagaagaaccaaaaggtctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:204170876_204170878GGAA>G	uc001has.1	-	2	365_367	c.179_181TTCC>C	c.(178-183)ttccaa>tCaa	p.60_61FQ>S	GOLT1A_uc001hat.1_In_Frame_Del_p.60_61FQ>S	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	60					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)			TTGTGCCGTTGGAAGAAGAACCA	0.576													-	204170879	GAA	-	204170877	7	5	191	1	0	1	0	1	0	0	0	0	6570	1165	41	0	230	0	GOLT1A	1	204170877	In_Frame_Del	DEL	GAA	TCGA-CG-5723-01A-11D-1600-08	79802	204170877	45079744	171	103191											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		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)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	191	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	57534	204228411	45022210	172	103192											
CR2	1380	broad.mit.edu	37	chr1	207644832	207644832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccttggtttatggagattCgtctttgtaaaggtgagtag	12	4	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:207644832C>T	uc001hfw.2	+	9	1652	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	CR2_uc001hfv.2_Missense_Mutation_p.R520C|CR2_uc009xch.2_Missense_Mutation_p.R520C|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	520	Sushi 8.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						TATGGAGATTCGTCTTTGTAA	0.383													T	207644832	C	T	207644832	3	4	191	1	0	0	0	0	1	0	0	0	3842	884	31	1	1592	1	CR2	1	207644832	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3416421	207644832	41605789	173	103193											
CR1L	1379	broad.mit.edu	37	chr1	207850873	207850873	+	Frame_Shift_Del	DEL	A	A	-													ccgttttctatcatctgcctAaaaaactcagtctggacaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:207850872_207850872TA>T	uc001hga.4	+	1	357	c.236_236TA>T	c.(235-237)ctafs	p.L79fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	79	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCATCTGCCTAAAAAACTCA	0.438													-	207850873	A	-	207850873	7	5	191	1	0	1	0	1	0	0	0	0	3841	349	13	0	243	0	CR1L	1	207850873	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	206041	207850873	41399748	174	103194											
PLXNA2	5362	broad.mit.edu	37	chr1	208391176	208391177	+	Frame_Shift_Ins	INS	-	-	G													ctgaggcatgccggctgctgINSggggggccagcagcacccag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:208391175_208391176T>TG	uc001hgz.3	-	1	850_851	c.92_93A>CA	c.(91-93)ccafs	p.P31fs	PLXNA2_uc001hha.4_Frame_Shift_Ins_p.P85fs	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	31					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)		TGCCGGCTGCTGGGGGGGCCAG	0.653													G	208391177	-	G	208391176	7	5	191	1	0	1	1	0	0	0	0	0	12120	1348	47	0	5716	0	PLXNA2	1	208391176	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	540303	208391176	40859445	175	103195											
LAMB3	3914	broad.mit.edu	37	chr1	209797343	209797343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcaggccctggagagttCgcctgagaagggagaggagc	18	9	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:209797343C>T	uc001hhg.2	-	14	2369	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q	LAMB3_uc009xco.2_Missense_Mutation_p.R660Q|LAMB3_uc001hhh.2_Missense_Mutation_p.R660Q|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	660	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGGAGAGTTCGCCTGAGAAG	0.532													T	209797343	C	T	209797343	3	4	191	1	0	0	0	0	1	0	0	0	8612	884	31	1	1575	1	LAMB3	1	209797343	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1406167	209797343	39453278	176	103196											
IRF6	3664	broad.mit.edu	37	chr1	209963054	209963054	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaatggtttcccatctggCcattcttccccaaagcataa	5	14	2	0	rs121434228		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:209963054C>T	uc001hhq.1	-	8	1400	c.1137G>A	c.(1135-1137)TGG>TGA	p.W379*	IRF6_uc010psm.1_Nonsense_Mutation_p.W284*|IRF6_uc009xct.1_Nonsense_Mutation_p.W379*	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	379					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCATCTGGCCATTCTTCCC	0.458										HNSCC(57;0.16)			T	209963054	C	T	209963054	4	4	191	1	0	0	0	0	0	1	0	0	7834	740	26	2	274	2	IRF6	1	209963054	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	165711	209963054	39287567	177	103197											
PPP2R5A	5525	broad.mit.edu	37	chr1	212532095	212532095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatggcaagcttttcgatGaccttactagctcatacaaa	7	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:212532095G>A	uc001hjb.2	+	12	1868	c.1294G>A	c.(1294-1296)GAC>AAC	p.D432N	PPP2R5A_uc010ptd.1_Missense_Mutation_p.D373N	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	432					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			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GCTTTTCGATGACCTTACTAG	0.343													A	212532095	G	A	212532095	3	1	191	1	0	0	0	0	1	0	0	0	12392	1290	45	4	1340	4	PPP2R5A	1	212532095	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2569041	212532095	36718526	178	103198											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220363750	220363750	+	Frame_Shift_Del	DEL	T	T	-													atggaagggaacgttcactgTtttcacacttccagacactg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:220363749_220363749GT>G	uc010puk.1	-	14	1765	c.1601_1601AC>C	c.(1600-1602)acafs	p.T534fs	RAB3GAP2_uc021pjf.1_Frame_Shift_Del_p.T534fs|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Frame_Shift_Del_p.T114fs	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	534					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)		AACGTTCACTGTTTTCACACT	0.433													-	220363750	T	-	220363750	7	5	191	1	0	1	0	1	0	0	0	0	12936	1725	60	0	2665	0	RAB3GAP2	1	220363750	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	7831655	220363750	28886871	179	103199											
MARK1	4139	broad.mit.edu	37	chr1	220835431	220835431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgtcacttaatggggttCgcttcaagcgaatatctggg	12	8	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:220835431C>T	uc001hmn.3	+	18	2908	c.2311C>T	c.(2311-2313)CGC>TGC	p.R771C	MARK1_uc009xdw.2_Missense_Mutation_p.R772C|MARK1_uc010pun.1_Missense_Mutation_p.R756C|MARK1_uc001hmm.3_Missense_Mutation_p.R734C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	771	KA1.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TAATGGGGTTCGCTTCAAGCG	0.428													T	220835431	C	T	220835431	3	4	191	1	0	0	0	0	1	0	0	0	9312	884	31	1	2381	1	MARK1	1	220835431	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	471681	220835431	28415190	180	103200											
HHIPL2	79802	broad.mit.edu	37	chr1	222716949	222716949	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcactaattcggatcttttCtaccttcttcttgtccaggc	5	13	5	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:222716949C>A	uc001hnh.1	-	2	962	c.904G>T	c.(904-906)GAA>TAA	p.E302*		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	302					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CGGATCTTTTCTACCTTCTTC	0.468													A	222716949	C	A	222716949	4	1	191	1	0	0	0	0	0	1	0	0	7094	922	32	5	1302	5	HHIPL2	1	222716949	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1881518	222716949	26533672	181	103201											
MIA3	375056	broad.mit.edu	37	chr1	222802793	222802793	+	Frame_Shift_Del	DEL	A	A	-													aaatgcaaaacggtctaaagAaaaaaaccctgggaatcagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:222802792_222802792GA>G	uc001hnl.3	+	3	2239	c.2230_2230GA>G	c.(2230-2232)gaafs	p.E744fs	MIA3_uc009xea.1_Frame_Shift_Del_p.E580fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	744					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)		ACGGTCTAAAGAAAAAAACCC	0.423													-	222802793	A	-	222802793	7	5	191	1	0	1	0	1	0	0	0	0	9565	246	9	0	2245	0	MIA3	1	222802793	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	85844	222802793	26447828	182	103202											
FAM177B	400823	broad.mit.edu	37	chr1	222922880	222922880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatcagtatgtgttaaaCgagttctataggatacaaaa	7	4	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:222922880C>T	uc001hnt.2	+	5	581	c.315C>T	c.(313-315)AAC>AAT	p.N105N	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	105										ovary(1)	1						ATGTGTTAAACGAGTTCTATA	0.403													T	222922880	C	T	222922880	2	4	191	1	0	0	0	0	0	0	0	1	5502	535	19	1		1	FAM177B	1	222922880	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	120087	222922880	26327741	183	103203											
EPHX1	2052	broad.mit.edu	37	chr1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-													tccacttcatccacgtgaagCccccccagctgcccgcaggc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:226026383_226026383GC>G	uc001hpk.3	+	3	473	c.393_393GC>G	c.(391-393)aagfs	p.K131fs	EPHX1_uc001hpl.3_Frame_Shift_Del_p.K131fs	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGC	0.622													-	226026384	C	-	226026384	7	5	191	1	0	1	0	1	0	0	0	0	5179	739	26	0	404	0	EPHX1	1	226026384	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	3103504	226026384	23224237	184	103204											
TMEM63A	9725	broad.mit.edu	37	chr1	226034752	226034752	+	Frame_Shift_Del	DEL	G	G	-													cacccagcctcaggcctcctGgggggcagcagccacactgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:226034751_226034751TG>T	uc001hpm.2	-	23	3036	c.2414_2414CA>A	c.(2413-2415)cagfs	p.Q805fs		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	805						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)					TCAGGCCTCCTGGGGGGCAGC	0.642													-	226034752	G	-	226034752	7	5	191	1	0	1	0	1	0	0	0	0	16187	1357	47	0	14	0	TMEM63A	1	226034752	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	8368	226034752	23215869	185	103205											
ITPKB	3707	broad.mit.edu	37	chr1	226924312	226924312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggcagctccgagttcccGgggtaggagagccccttttg	14	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:226924312G>A	uc010pvo.1	-	2	1188	c.848C>T	c.(847-849)CCG>CTG	p.P283L	ITPKB_uc001hqh.2_Missense_Mutation_p.P283L	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	283							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CCGAGTTCCCGGGGTAGGAGA	0.582													A	226924312	G	A	226924312	3	1	191	1	0	0	0	0	1	0	0	0	7918	1116	39	1	2020	1	ITPKB	1	226924312	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	889560	226924312	22326309	186	103206											
GJC2	57165	broad.mit.edu	37	chr1	228345575	228345575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttccgcatcgtgctgaCggctgtgggcggcgaggcca	17	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228345575C>T	uc001hsk.2	+	2	291	c.116C>T	c.(115-117)ACG>ATG	p.T39M		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	39	Helical; (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				ATCGTGCTGACGGCTGTGGGC	0.637													T	228345575	C	T	228345575	3	4	191	1	0	0	0	0	1	0	0	0	6415	536	19	1	118	1	GJC2	1	228345575	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1421263	228345575	20905046	187	103207											
OBSCN	84033	broad.mit.edu	37	chr1	228466411	228466411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccagtgaccctcgtgcGcccgctgcgggacaagattg	14	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228466411G>A	uc009xez.1	+	26	6925	c.6881G>A	c.(6880-6882)CGC>CAC	p.R2294H	OBSCN_uc001hsn.2_Missense_Mutation_p.R2294H|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2294	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACCCTCGTGCGCCCGCTGCGG	0.662													A	228466411	G	A	228466411	3	1	191	1	0	0	0	0	1	0	0	0	10812	1087	38	1	6979	1	OBSCN	1	228466411	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	120836	228466411	20784210	188	103208											
OBSCN	84033	broad.mit.edu	37	chr1	228480371	228480371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggggacagatacagccTgaggcaggacgggactaaat	15	7	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228480371T>C	uc009xez.1	+	40	10795	c.10751T>C	c.(10750-10752)CTG>CCG	p.L3584P	OBSCN_uc001hsn.2_Missense_Mutation_p.L3584P|OBSCN_uc001hsq.1_Missense_Mutation_p.L840P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3584	Ig-like 36.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGATACAGCCTGAGGCAGGAC	0.607													C	228480371	T	C	228480371	3	2	191	1	0	0	0	0	1	0	0	0	10812	1580	55	3	10905	3	OBSCN	1	228480371	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	13960	228480371	20770250	189	103209											
OBSCN	84033	broad.mit.edu	37	chr1	228505745	228505745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcatccagcccggtgggCggttcgaggtggtctcccag	16	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228505745C>T	uc009xez.1	+	53	14046	c.14002C>T	c.(14002-14004)CGG>TGG	p.R4668W	OBSCN_uc001hsn.2_Missense_Mutation_p.R4668W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4668	Ig-like 47.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCCGGTGGGCGGTTCGAGGT	0.627													T	228505745	C	T	228505745	3	4	191	1	0	0	0	0	1	0	0	0	10812	759	27	1	14208	1	OBSCN	1	228505745	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	25374	228505745	20744876	190	103210											
NUP133	55746	broad.mit.edu	37	chr1	229606455	229606455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttcttgagaacaatggCggctgacagcttttcggcat	13	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:229606455C>T	uc001htn.2	-	15	2040	c.1948G>A	c.(1948-1950)GCC>ACC	p.A650T		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	650					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			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGAACAATGGCGGCTGACAGC	0.498													T	229606455	C	T	229606455	3	4	191	1	0	0	0	0	1	0	0	0	10754	768	27	1	1570	1	NUP133	1	229606455	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1100710	229606455	19644166	191	103211											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650507	232650507	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgatggatgaagtactTccatactccctgtgcagggc	11	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:232650507T>C	uc001hvg.2	-	1	737	c.579A>G	c.(577-579)GGA>GGG	p.G193G		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	193					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGAAGTACTTCCATACTCCC	0.468													C	232650507	T	C	232650507	2	2	191	1	0	0	0	0	0	0	0	1	14330	1770	62	3		3	SIPA1L2	1	232650507	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3044052	232650507	16600114	192	103212											
KCNK1	3775	broad.mit.edu	37	chr1	233802452	233802452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggctgtggtccagcgcaTcaccgtgcacgtcacccgca	12	16	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:233802452T>C	uc010pxo.1	+	2	635	c.467T>C	c.(466-468)ATC>ACC	p.I156T	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	156	Cytoplasmic (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GTCCAGCGCATCACCGTGCAC	0.602													C	233802452	T	C	233802452	3	2	191	1	0	0	0	0	1	0	0	0	8058	1435	50	3	473	3	KCNK1	1	233802452	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1151945	233802452	15448169	193	103213											
ARID4B	51742	broad.mit.edu	37	chr1	235409788	235409788	+	Frame_Shift_Del	DEL	A	A	-													tttcctatgactggagtgccAaaatgctcagggttggtgag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:235409787_235409787CA>C	uc021pks.1	-	6	771	c.394_394TG>G	c.(394-396)ggcfs	p.G132fs	ARID4B_uc001hwq.3_Frame_Shift_Del_p.G132fs|ARID4B_uc001hwr.3_Frame_Shift_Del_p.G132fs|ARID4B_uc001hws.4_Frame_Shift_Del_p.G132fs|ARID4B_uc001hwu.1_Frame_Shift_Del_p.G132fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	132					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)			ACTGGAGTGCCAAAATGCTCA	0.378													-	235409788	A	-	235409788	7	5	191	1	0	1	0	1	0	0	0	0	920	127	5	0	3617	0	ARID4B	1	235409788	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1607336	235409788	13840833	194	103214											
NID1	4811	broad.mit.edu	37	chr1	236189283	236189283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacacgctgtccaccgagaGctgctgggtgctgggcaggg	17	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236189283G>T	uc001hxo.2	-	8	1999	c.1897C>A	c.(1897-1899)CTC>ATC	p.L633I	NID1_uc009xgd.2_Missense_Mutation_p.L633I	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	633	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	TCCACCGAGAGCTGCTGGGTG	0.582													T	236189283	G	T	236189283	3	4	191	1	0	0	0	0	1	0	0	0	10414	971	34	5	1898	5	NID1	1	236189283	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	779495	236189283	13061338	195	103215											
GPR137B	7107	broad.mit.edu	37	chr1	236371377	236371377	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagattactatgattggggAcaacaaactaacagcttcct	7	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236371377A>G	uc001hxq.2	+	7	1210	c.1119A>G	c.(1117-1119)GGA>GGG	p.G373G	GPR137B_uc001hxr.1_3'UTR|GPR137B_uc009xge.2_RNA	NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	373	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction					0	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)			ATGATTGGGGACAACAAACTA	0.358													G	236371377	A	G	236371377	2	3	191	1	0	0	0	0	0	0	0	1	6646	262	10	3		3	GPR137B	1	236371377	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	182094	236371377	12879244	196	103216											
HEATR1	55127	broad.mit.edu	37	chr1	236719118	236719118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttacctcagagtgctggGctcggaagtccagggcttcc	13	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236719118G>A	uc001hyd.1	-	39	5761	c.5636C>T	c.(5635-5637)GCC>GTC	p.A1879V	HEATR1_uc009xgh.1_Missense_Mutation_p.A1041V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1879					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAGTGCTGGGCTCGGAAGTC	0.498													A	236719118	G	A	236719118	3	1	191	1	0	0	0	0	1	0	0	0	7027	1203	42	2	826	2	HEATR1	1	236719118	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	347741	236719118	12531503	197	103217											
HEATR1	55127	broad.mit.edu	37	chr1	236721561	236721561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgggggatggccagcGcctccagggtggaggtcacc	18	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236721561G>A	uc001hyd.1	-	36	5305	c.5180C>T	c.(5179-5181)GCG>GTG	p.A1727V	HEATR1_uc009xgh.1_Missense_Mutation_p.A889V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1727					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATGGCCAGCGCCTCCAGGGT	0.542													A	236721561	G	A	236721561	3	1	191	1	0	0	0	0	1	0	0	0	7027	1087	38	1	1294	1	HEATR1	1	236721561	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2443	236721561	12529060	198	103218											
ACTN2	88	broad.mit.edu	37	chr1	236925802	236925802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtcgggagctgcccccGgatcaggcccagtactgcat	13	15	1	0	rs149554430		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236925802G>A	uc001hyf.2	+	21	2772	c.2568G>A	c.(2566-2568)CCG>CCA	p.P856P	ACTN2_uc001hyg.2_Silent_p.P648P|ACTN2_uc009xgi.1_Silent_p.P856P|ACTN2_uc010pxu.1_Silent_p.P545P|ACTN2_uc001hyh.2_Silent_p.P544P	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	856					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			ovary(4)|skin(1)	5	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)			AGCTGCCCCCGGATCAGGCCC	0.572													A	236925802	G	A	236925802	2	1	191	1	0	0	0	0	0	0	0	1	205	1103	39	1		1	ACTN2	1	236925802	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	204241	236925802	12324819	199	103219											
FMN2	56776	broad.mit.edu	37	chr1	240255930	240255930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggggcgcaggatggacaaaGgaccagctcgggctcggaca	17	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:240255930G>T	uc010pyd.1	+	1	746	c.521G>T	c.(520-522)AGG>ATG	p.R174M	FMN2_uc010pye.1_Missense_Mutation_p.R174M	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	174					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATGGACAAAGGACCAGCTCG	0.617													T	240255930	G	T	240255930	3	4	191	1	0	0	0	0	1	0	0	0	5950	1000	35	5	523	5	FMN2	1	240255930	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3330128	240255930	8994691	200	103220											
FMN2	56776	broad.mit.edu	37	chr1	240370992	240370992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctcttccCggggcaggcataccccttcc	7	24	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:240370992C>T	uc010pyd.1	+	5	3105	c.2880C>T	c.(2878-2880)CCC>CCT	p.P960P	FMN2_uc010pye.1_Silent_p.P964P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	960	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTTCCCGGGGCAGGCA	0.697													T	240370992	C	T	240370992	2	4	191	1	0	0	0	0	0	0	0	1	5950	639	23	1		1	FMN2	1	240370992	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	115062	240370992	8879629	201	103221											
CEP170	9859	broad.mit.edu	37	chr1	243289821	243289821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatgtatactgaaatcaGcctcagattcagcattctca	6	9	4	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:243289821G>A	uc001hzs.2	-	20	5093	c.4685C>T	c.(4684-4686)GCT>GTT	p.A1562V	CEP170_uc001hzt.2_Missense_Mutation_p.A1438V|CEP170_uc001hzu.2_Missense_Mutation_p.A1464V|CEP170_uc001hzr.2_Missense_Mutation_p.A151V|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1562	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			ACTGAAATCAGCCTCAGATTC	0.448													A	243289821	G	A	243289821	3	1	191	1	0	0	0	0	1	0	0	0	3250	971	34	2	73	2	CEP170	1	243289821	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2918829	243289821	5960800	202	103222											
KIF26B	55083	broad.mit.edu	37	chr1	245849899	245849899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggggtcctggacagcgGccgccccaccagcatcatca	12	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:245849899G>A	uc001ibf.1	+	12	4054	c.3614G>A	c.(3613-3615)GGC>GAC	p.G1205D	KIF26B_uc001ibg.1_Missense_Mutation_p.G823D|KIF26B_uc001ibh.1_Missense_Mutation_p.G447D	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1205					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			CTGGACAGCGGCCGCCCCACC	0.657													A	245849899	G	A	245849899	3	1	191	1	0	0	0	0	1	0	0	0	8295	1203	42	2	3660	2	KIF26B	1	245849899	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2560078	245849899	3400722	203	103223											
TFB2M	64216	broad.mit.edu	37	chr1	246729434	246729434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcccgaccactgggaTccacatgtccttgtctctca	9	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:246729434T>A	uc001ibn.2	-	1	132	c.7A>T	c.(7-9)ATC>TTC	p.I3F	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	3					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	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)			ACCACTGGGATCCACATGTCC	0.587													A	246729434	T	A	246729434	3	1	191	1	0	0	0	0	1	0	0	0	15791	1435	50	5	1215	5	TFB2M	1	246729434	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	879535	246729434	2521187	204	103224											
CNST	163882	broad.mit.edu	37	chr1	246823624	246823624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattccaagaaatagacgatAgcttggatcaaggtaaaccg	10	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:246823624A>G	uc001ibp.2	+	10	2338	c.1960A>G	c.(1960-1962)AGC>GGC	p.S654G		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	654					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AATAGACGATAGCTTGGATCA	0.423													G	246823624	A	G	246823624	3	3	191	1	0	0	0	0	1	0	0	0	3634	420	15	3	2009	3	CNST	1	246823624	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	94190	246823624	2426997	205	103225											
OR6F1	343169	broad.mit.edu	37	chr1	247875954	247875954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccactaactgtgaggatgTacatcaccagaaaaagcata	7	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:247875954T>C	uc001idj.1	-	1	104	c.104A>G	c.(103-105)TAC>TGC	p.Y35C		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			TGTGAGGATGTACATCACCAG	0.468													C	247875954	T	C	247875954	3	2	191	1	0	0	0	0	1	0	0	0	11201	1638	57	3	826	3	OR6F1	1	247875954	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1052330	247875954	1374667	206	103226											
PXDN	7837	broad.mit.edu	37	chr2	1653400	1653400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacagcccgacaggtttgCgatgaggttcaggtactgtg	15	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:1653400C>T	uc002qxa.2	-	17	2216	c.2152G>A	c.(2152-2154)GCA>ACA	p.A718T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	718					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			pancreas(6)|ovary(2)	8	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)		GACAGGTTTGCGATGAGGTTC	0.572													T	1653400	C	T	1653400	3	4	191	1	0	0	0	0	1	0	0	0	12847	768	27	1	2315	1	PXDN	2	1653400	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08		1653400	241545973	207	103227											
TTC15	51112	broad.mit.edu	37	chr2	3481504	3481504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaaagtattttcaagaCgttgagaaagtaacacagaa	9	5	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:3481504C>T	uc002qxm.1	+	10	2021	c.1815C>T	c.(1813-1815)GAC>GAT	p.D605D	TTC15_uc002qxn.1_Silent_p.D605D|TTC15_uc010ewm.1_Silent_p.D611D	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	605	TPR 2.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		ATTTTCAAGACGTTGAGAAAG	0.274													T	3481504	C	T	3481504	2	4	191	1	0	0	0	0	0	0	0	1	16679	535	19	1		1	TTC15	2	3481504	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1828104	3481504	239717869	208	103228											
IAH1	285148	broad.mit.edu	37	chr2	9628371	9628371	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctttgatagagaaaaaggtCtcttctctacctttgctgct	7	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:9628371C>A	uc002qzr.2	+	6	686	c.660C>A	c.(658-660)GTC>GTA	p.V220V	IAH1_uc002qzs.2_Silent_p.V107V|IAH1_uc002qzt.2_Silent_p.V107V|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	220					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGAAAAAGGTCTCTTCTCTAC	0.433													A	9628371	C	A	9628371	2	1	191	1	0	0	0	0	0	0	0	1	7471	900	32	5		5	IAH1	2	9628371	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6146867	9628371	233571002	209	103229											
GRHL1	29841	broad.mit.edu	37	chr2	10140825	10140825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttacaagctcaccctgaCggagatctaaaggcctgcgg	11	12	3	2	rs143356570		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:10140825C>T	uc002raa.2	+	16	2018	c.1847C>T	c.(1846-1848)ACG>ATG	p.T616M	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.T427M|GRHL1_uc010yjb.1_Missense_Mutation_p.T465M	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	616					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTCACCCTGACGGAGATCTAA	0.537													T	10140825	C	T	10140825	3	4	191	1	0	0	0	0	1	0	0	0	6763	536	19	1	1909	1	GRHL1	2	10140825	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	512454	10140825	233058548	210	103230											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10908887	10908887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaagtcccgaacggccGcctacaacactctgaagaca	8	15	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:10908887G>A	uc002ras.2	+	6	530	c.421G>A	c.(421-423)GCC>ACC	p.A141T	ATP6V1C2_uc002rat.2_Missense_Mutation_p.A141T	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	141					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCGAACGGCCGCCTACAACAC	0.557													A	10908887	G	A	10908887	3	1	191	1	0	0	0	0	1	0	0	0	1181	1087	38	1	439	1	ATP6V1C2	2	10908887	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	768062	10908887	232290486	211	103231											
KCNF1	3754	broad.mit.edu	37	chr2	11053802	11053802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtactacaacaagcagcGcgtcctggagaccgcggcca	12	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:11053802G>A	uc002rax.2	+	1	1740	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	417	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AACAAGCAGCGCGTCCTGGAG	0.617													A	11053802	G	A	11053802	3	1	191	1	0	0	0	0	1	0	0	0	8026	1087	38	1	1252	1	KCNF1	2	11053802	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	144915	11053802	232145571	212	103232											
ROCK2	9475	broad.mit.edu	37	chr2	11332385	11332385	+	Frame_Shift_Del	DEL	T	T	-													aagggtctggagctgggggcTttttaggtatctttttcacc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:11332384_11332384CT>C	uc002rbd.1	-	31	4502	c.4053_4053AG>G	c.(4051-4053)aagfs	p.K1351fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1351					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)		GAGCTGGGGGCTTTTTAGGTA	0.433													-	11332385	T	-	11332385	7	5	191	1	0	1	0	1	0	0	0	0	13518	1609	56	0	122	0	ROCK2	2	11332385	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	278583	11332385	231866988	213	103233											
LPIN1	23175	broad.mit.edu	37	chr2	11923961	11923961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttgccgttttagataaacGaagccgacatcttggtgctg	10	8	1	1	rs115521500	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:11923961G>A	uc010yjn.1	+	9	1437	c.1163G>A	c.(1162-1164)CGA>CAA	p.R388Q	LPIN1_uc010yjm.1_Missense_Mutation_p.R473Q|LPIN1_uc002rbt.2_Missense_Mutation_p.R388Q|LPIN1_uc002rbs.2_Missense_Mutation_p.R424Q	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	388					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTAGATAAACGAAGCCGACAT	0.438													A	11923961	G	A	11923961	3	1	191	1	0	0	0	0	1	0	0	0	8918	1058	37	1	1189	1	LPIN1	2	11923961	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	591576	11923961	231275412	214	103234											
NBAS	51594	broad.mit.edu	37	chr2	15307394	15307394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacacacttcaccagcagCttggcatccaggagcaggga	12	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:15307394C>T	uc002rcc.1	-	52	6920	c.6894G>A	c.(6892-6894)AAG>AAA	p.K2298K	NBAS_uc002rcb.1_Silent_p.K138K|NBAS_uc010exl.1_Silent_p.K1370K|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2298										ovary(2)|liver(1)|skin(1)	4						TCACCAGCAGCTTGGCATCCA	0.522													T	15307394	C	T	15307394	2	4	191	1	0	0	0	0	0	0	0	1	10186	796	28	2		2	NBAS	2	15307394	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3383433	15307394	227891979	215	103235											
NBAS	51594	broad.mit.edu	37	chr2	15432888	15432888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgattagttctttgggatcAgcctatgaaagacatggaaa	10	5	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:15432888A>G	uc002rcc.1	-	41	4826	c.4800T>C	c.(4798-4800)GCT>GCC	p.A1600A	NBAS_uc010exl.1_Silent_p.A672A|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1600										ovary(2)|liver(1)|skin(1)	4						CTTTGGGATCAGCCTATGAAA	0.433													G	15432888	A	G	15432888	2	3	191	1	0	0	0	0	0	0	0	1	10186	175	7	3		3	NBAS	2	15432888	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	125494	15432888	227766485	216	103236											
GEN1	348654	broad.mit.edu	37	chr2	17941286	17941286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtaatcttggtgggaaaAccattgcagttgatctgagt	12	6	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:17941286A>C	uc002rct.2	+	2	149	c.76A>C	c.(76-78)ACC>CCC	p.T26P	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.T26P|GEN1_uc002rcu.2_Missense_Mutation_p.T26P	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	26	N-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTGGGAAAACCATTGCAGT	0.463								Homologous_recombination					C	17941286	A	C	17941286	3	2	191	1	0	0	0	0	1	0	0	0	6335	43	2	5	78	5	GEN1	2	17941286	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2508398	17941286	225258087	217	103237											
GEN1	348654	broad.mit.edu	37	chr2	17961961	17961961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcacacatgactttaaaAcccacatgtgaaatctttca	4	11	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:17961961A>C	uc002rct.2	+	14	1555	c.1482A>C	c.(1480-1482)AAA>AAC	p.K494N	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.K494N|GEN1_uc002rcu.2_Missense_Mutation_p.K494N	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	494					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACTTTAAAACCCACATGTG	0.343								Homologous_recombination					C	17961961	A	C	17961961	3	2	191	1	0	0	0	0	1	0	0	0	6335	40	2	5	1532	5	GEN1	2	17961961	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	20675	17961961	225237412	218	103238											
APOB	338	broad.mit.edu	37	chr2	21233212	21233212	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaaattgtatcatataTgtctgcagttgagatagttt	8	4	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:21233212T>C	uc002red.2	-	26	6656	c.6528A>G	c.(6526-6528)ACA>ACG	p.T2176T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2176	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTATCATATATGTCTGCAGTT	0.244													C	21233212	T	C	21233212	2	2	191	1	0	0	0	0	0	0	0	1	785	1451	51	3		3	APOB	2	21233212	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3271251	21233212	221966161	219	103239											
APOB	338	broad.mit.edu	37	chr2	21235467	21235467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatttgtggcgtagagAcccatcatatgatagtgtga	11	5	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:21235467A>G	uc002red.2	-	26	4401	c.4273T>C	c.(4273-4275)TCT>CCT	p.S1425P		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1425					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGCGTAGAGACCCATCATAT	0.338													G	21235467	A	G	21235467	3	3	191	1	0	0	0	0	1	0	0	0	785	275	10	3	9434	3	APOB	2	21235467	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2255	21235467	221963906	220	103240											
GPR113	165082	broad.mit.edu	37	chr2	26534413	26534413	+	Frame_Shift_Del	DEL	C	C	-													ggcacccttctttggaccaaCcccccctgccctggaagaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:26534412_26534412AC>A	uc002rhe.4	-	10	2184	c.2184_2184GT>T	c.(2182-2184)ggtfs	p.G728fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G659fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G331fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G529fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G331fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	728	GPS.				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)					CTTTGGACCAACCCCCCCTGC	0.612													-	26534413	C	-	26534413	7	5	191	1	0	1	0	1	0	0	0	0	6630	507	18	0	1157	0	GPR113	2	26534413	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	5298946	26534413	216664960	221	103241											
OTOF	9381	broad.mit.edu	37	chr2	26693574	26693574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcttcttcttcttcttctCcttctcctcctcagcctgca	2	18	8	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:26693574C>T	uc002rhk.2	-	32	4037	c.3910G>A	c.(3910-3912)GAG>AAG	p.E1304K	OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1304	Cytoplasmic (Potential).|Poly-Lys.				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ttcttcttctccttctcctcc	0.512													T	26693574	C	T	26693574	3	4	191	1	0	0	0	0	1	0	0	0	11303	864	30	4	2328	4	OTOF	2	26693574	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	159161	26693574	216505799	222	103242											
OTOF	9381	broad.mit.edu	37	chr2	26696092	26696092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccaccagtgtgtagCgaccgaaggcccggcagtcc	15	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:26696092C>T	uc002rhk.2	-	29	3768	c.3641G>A	c.(3640-3642)CGC>CAC	p.R1214H	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.R467H|OTOF_uc002rhi.2_Missense_Mutation_p.R524H|OTOF_uc002rhj.2_Missense_Mutation_p.R467H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1214	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTGTAGCGACCGAAGGC	0.672													T	26696092	C	T	26696092	3	4	191	1	0	0	0	0	1	0	0	0	11303	768	27	1	2609	1	OTOF	2	26696092	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2518	26696092	216503281	223	103243											
AGBL5	60509	broad.mit.edu	37	chr2	27278901	27278901	+	Frame_Shift_Del	DEL	C	C	-													gagtcagcccctgataccatCccccccaaagagagtggcgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:27278900_27278900TC>T	uc002rie.3	+	6	1476	c.1259_1259TC>T	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Del_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					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)					CCTGATACCATCCCCCCCAAA	0.517													-	27278901	C	-	27278901	7	5	191	1	0	1	0	1	0	0	0	0	378	845	30	0	1282	0	AGBL5	2	27278901	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	582809	27278901	215920472	224	103244											
SLC30A3	7781	broad.mit.edu	37	chr2	27481120	27481120	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatcatgctgcccacatcCgccagcaagtgggctgcatc	9	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:27481120C>A	uc002rjk.2	-	3	519	c.333G>T	c.(331-333)GCG>GCT	p.A111A	SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Silent_p.A106A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	111	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCACATCCGCCAGCAAGT	0.582													A	27481120	C	A	27481120	2	1	191	1	0	0	0	0	0	0	0	1	14556	639	23	5		5	SLC30A3	2	27481120	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	202219	27481120	215718253	225	103245											
ZNF513	130557	broad.mit.edu	37	chr2	27602968	27602971	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													ccgaaaacccaccttccgagTctctctcgaagcccatgagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:27602967_27602970GTCTC>G	uc002rkk.3	-	1	419_422	c.201_204GAGAC>C	c.(199-204)agagacfs	p.R67fs	ZNF513_uc002rkj.3_Frame_Shift_Del_p.R5fs	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	67	Gly-rich.				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	p.R67T(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCCGAGTCTCTCTCGAAGC	0.559													-	27602971	TCTC	-	27602968	7	5	191	1	0	1	0	1	0	0	0	0	17955	1667	58	0	1434	0	ZNF513	2	27602968	Frame_Shift_Del	DEL	TCTC	TCGA-CG-5723-01A-11D-1600-08	121848	27602968	215596405	226	103246											
FOSL2	2355	broad.mit.edu	37	chr2	28627079	28627079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagcccacagtgatcAcctccatgtccaacccatac	7	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:28627079A>G	uc002rma.2	+	2	1017	c.208A>G	c.(208-210)ACC>GCC	p.T70A	FOSL2_uc010ymi.1_Missense_Mutation_p.T31A	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	70					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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CACAGTGATCACCTCCATGTC	0.632													G	28627079	A	G	28627079	3	3	191	1	0	0	0	0	1	0	0	0	5988	159	6	3	214	3	FOSL2	2	28627079	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1024111	28627079	214572294	227	103247											
TRMT61B	55006	broad.mit.edu	37	chr2	29083987	29083987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgttagaaaacttactgcGtcaaatgttaaagattttat	6	6	1	2	rs145705706		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:29083987G>A	uc002rmm.2	-	3	1022	c.990C>T	c.(988-990)GAC>GAT	p.D330D	TRMT61B_uc002rmn.2_Silent_p.D330D|TRMT61B_uc010ezk.2_RNA	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B	330							tRNA (adenine-N1-)-methyltransferase activity				0						AACTTACTGCGTCAAATGTTA	0.388													A	29083987	G	A	29083987	2	1	191	1	0	0	0	0	0	0	0	1	16567	1136	40	1		1	TRMT61B	2	29083987	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	456908	29083987	214115386	228	103248											
ALK	238	broad.mit.edu	37	chr2	29416400	29416400	+	Frame_Shift_Del	DEL	T	T	-													tctttgctataggattattcTttttggtgggtttctctgta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:29416399_29416399CT>C	uc002rmy.3	-	28	5506	c.4554_4554AG>G	c.(4552-4554)aagfs	p.K1518fs	ALK_uc010ymo.2_Frame_Shift_Del_p.K450fs	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1518					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)	TAGGATTATTCTTTTTGGTGG	0.537			"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				-	29416400	T	-	29416400	7	5	191	1	0	1	0	1	0	0	0	0	525	1609	56	0	313	0	ALK	2	29416400	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	332413	29416400	213782973	229	103249											
CAPN13	92291	broad.mit.edu	37	chr2	30987098	30987098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagatggatgttggtgAtcacgcctcctgtgaggtcc	14	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:30987098A>G	uc002rnn.2	-	6	775	c.599T>C	c.(598-600)ATC>ACC	p.I200T	CAPN13_uc002rnp.1_Missense_Mutation_p.I200T	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	200	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GATGTTGGTGATCACGCCTCC	0.582													G	30987098	A	G	30987098	3	3	191	1	0	0	0	0	1	0	0	0	2626	333	12	3	1478	3	CAPN13	2	30987098	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1570698	30987098	212212275	230	103250											
CRIM1	51232	broad.mit.edu	37	chr2	36704126	36704126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtcgatgccaagggggCgttgccatctgcttcaccgc	12	13	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:36704126C>T	uc002rpd.2	+	6	1125	c.1086C>T	c.(1084-1086)GGC>GGT	p.G362G		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	362	VWFC 1.|Extracellular (Potential).				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			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCCAAGGGGGCGTTGCCATCT	0.493													T	36704126	C	T	36704126	2	4	191	1	0	0	0	0	0	0	0	1	3873	755	27	1		1	CRIM1	2	36704126	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5717028	36704126	206495247	231	103251											
VIT	5212	broad.mit.edu	37	chr2	37035710	37035710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgaagcgggtctgcgaCactgaccgcctggcctgcag	15	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:37035710C>T	uc002rpl.2	+	15	1706	c.1485C>T	c.(1483-1485)GAC>GAT	p.D495D	VIT_uc002rpm.2_Silent_p.D473D|VIT_uc010ezv.2_Silent_p.D451D|VIT_uc010ezw.2_Silent_p.D452D	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	480						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GGGTCTGCGACACTGACCGCC	0.617													T	37035710	C	T	37035710	2	4	191	1	0	0	0	0	0	0	0	1	17168	477	17	4		4	VIT	2	37035710	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	331584	37035710	206163663	232	103252											
CEBPZ	10153	broad.mit.edu	37	chr2	37430154	37430154	+	Splice_Site	DEL	A	A	-													ttttcttttttcttggccctAaaaaaaattgtaagtctaca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269													-	37430154	A	-	37430154	8	5	191	1	0	1	0	1	0	0	1	0	3204	377	13	0		0	CEBPZ	2	37430154	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	394444	37430154	205769219	233	103253											
THUMPD2	80745	broad.mit.edu	37	chr2	39964026	39964026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcgaatgaagttgacGctgtcttgaatgcaccagtt	11	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:39964026G>A	uc002rru.2	-	10	1398	c.1361C>T	c.(1360-1362)GCG>GTG	p.A454V	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.A345V	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	454							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				TGAAGTTGACGCTGTCTTGAA	0.423													A	39964026	G	A	39964026	3	1	191	1	0	0	0	0	1	0	0	0	15880	1087	38	1	154	1	THUMPD2	2	39964026	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2533872	39964026	203235347	234	103254											
THADA	63892	broad.mit.edu	37	chr2	43625164	43625164	+	Frame_Shift_Del	DEL	G	G	-													aaacactggtcagtgcagctGgggagtgtggacaacagagt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:43625163_43625163TG>T	uc002rsw.4	-	28	4526	c.4174_4174CA>A	c.(4174-4176)agcfs	p.S1392fs	THADA_uc010far.3_Frame_Shift_Del_p.S587fs|THADA_uc002rsx.4_Frame_Shift_Del_p.S1392fs|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Frame_Shift_Del_p.S1101fs|THADA_uc010fat.1_Frame_Shift_Del_p.S539fs	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1392							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)				TCAGTGCAGCTGGGGAGTGTG	0.463													-	43625164	G	-	43625164	7	5	191	1	0	1	0	1	0	0	0	0	15837	1335	47	0	1728	0	THADA	2	43625164	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	3661138	43625164	199574209	235	103255											
ABCG8	64241	broad.mit.edu	37	chr2	44099366	44099366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctgcctcccagcagcGtgaccccactagacaccaac	6	18	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:44099366G>A	uc002rtq.2	+	8	1222	c.1132G>A	c.(1132-1134)GTG>ATG	p.V378M	ABCG8_uc010yoa.1_Missense_Mutation_p.V377M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	378	Cytoplasmic (Potential).				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			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCCCAGCAGCGTGACCCCACT	0.572													A	44099366	G	A	44099366	3	1	191	1	0	0	0	0	1	0	0	0	72	1145	40	1	1162	1	ABCG8	2	44099366	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	474202	44099366	199100007	236	103256											
PPM1B	5495	broad.mit.edu	37	chr2	44428501	44428501	+	Frame_Shift_Del	DEL	T	T	-													acggcttggaagactggtcaTtttttgcagtttatgatggt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:44428500_44428500AT>A	uc002rtt.3	+	1	590	c.162_162AT>A	c.(160-162)tcafs	p.S54fs	PPM1B_uc002rts.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtu.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtx.3_Frame_Shift_Del_p.S54fs	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	54					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)				AAGACTGGTCATTTTTTGCAG	0.448													-	44428501	T	-	44428501	7	5	191	1	0	1	0	1	0	0	0	0	12336	1493	52	0	165	0	PPM1B	2	44428501	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	329135	44428501	198770872	237	103257											
SIX3	6496	broad.mit.edu	37	chr2	45169972	45169972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaactggcgcaggccacCggcctcactcccacacaagt	10	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:45169972C>T	uc002run.1	+	1	936	c.729C>T	c.(727-729)ACC>ACT	p.T243T		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	243	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGCAGGCCACCGGCCTCACTC	0.662													T	45169972	C	T	45169972	2	4	191	1	0	0	0	0	0	0	0	1	14348	639	23	1		1	SIX3	2	45169972	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	741471	45169972	198029401	238	103258											
PRKCE	5581	broad.mit.edu	37	chr2	45879393	45879393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggacgactcgcgcatcGgccaaacggccaccaagcag	12	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:45879393G>A	uc002rut.2	+	1	351	c.154G>A	c.(154-156)GGC>AGC	p.G52S		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	52	C2.				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			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CTCGCGCATCGGCCAAACGGC	0.627													A	45879393	G	A	45879393	3	1	191	1	0	0	0	0	1	0	0	0	12511	1116	39	1	156	1	PRKCE	2	45879393	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	709421	45879393	197319980	239	103259											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48808788	48808788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaaggttgagaacttcaGtgtagcaggaaaaatccaca	9	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:48808788G>A	uc010yol.1	+	1	1063	c.1016G>A	c.(1015-1017)AGT>AAT	p.S339N	STON1_uc002rwo.3_Missense_Mutation_p.S339N|STON1_uc010fbm.2_Missense_Mutation_p.S339N|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S339N|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.S339N	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	339					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAACTTCAGTGTAGCAGGA	0.358													A	48808788	G	A	48808788	3	1	191	1	0	0	0	0	1	0	0	0	15316	1029	36	4	1018	4	STON1-GTF2A1L	2	48808788	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2929395	48808788	194390585	240	103260											
FSHR	2492	broad.mit.edu	37	chr2	49190059	49190059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaatgaagaaatctctgCgaaagtttttggtaaagatg	11	4	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:49190059C>T	uc002rww.2	-	10	1975	c.1901G>A	c.(1900-1902)CGC>CAC	p.R634H	FSHR_uc002rwx.2_Missense_Mutation_p.R572H|FSHR_uc010fbn.2_Missense_Mutation_p.R608H	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	634	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.R634R(1)		ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	GAAATCTCTGCGAAAGTTTTT	0.453									Gonadal_Dysgenesis_46_XX				T	49190059	C	T	49190059	3	4	191	1	0	0	0	0	1	0	0	0	6073	768	27	1	190	1	FSHR	2	49190059	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	381271	49190059	194009314	241	103261											
NRXN1	9378	broad.mit.edu	37	chr2	51255151	51255151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagctgagctgcaggcgGccgccgcgcgtcagaatcag	16	12	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:51255151G>A	uc010fbq.2	-	2	1738	c.261C>T	c.(259-261)GGC>GGT	p.G87G	NRXN1_uc002rxe.3_Silent_p.G87G|NRXN1_uc002rxd.1_Silent_p.G87G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGCAGGCGGCCGCCGCGCG	0.672													A	51255151	G	A	51255151	2	1	191	1	0	0	0	0	0	0	0	1	10665	1190	42	2		2	NRXN1	2	51255151	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2065092	51255151	191944222	242	103262											
PSME4	23198	broad.mit.edu	37	chr2	54119956	54119956	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacatcaccttttcaaatgTccagtgcttagaacctctga	5	11	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:54119956T>A	uc002rxp.2	-	36	4236	c.4180A>T	c.(4180-4182)ACA>TCA	p.T1394S	PSME4_uc010yop.1_Missense_Mutation_p.T1280S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.T769S|PSME4_uc010fbv.1_Missense_Mutation_p.T538S	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1394					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			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTCAAATGTCCAGTGCTTA	0.373													A	54119956	T	A	54119956	3	1	191	1	0	0	0	0	1	0	0	0	12709	1667	58	5	1395	5	PSME4	2	54119956	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2864805	54119956	189079417	243	103263											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	191	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-CG-5723-01A-11D-1600-08	47184	54167140	189032233	244	103264											
C2orf73	129852	broad.mit.edu	37	chr2	54570910	54570910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcttcctaccaccttaCgactctaagagcacccagag	6	16	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:54570910C>T	uc002rxt.1	+	3	330	c.288C>T	c.(286-288)TAC>TAT	p.Y96Y	C2orf73_uc010yor.1_Silent_p.Y38Y|C2orf73_uc002rxs.1_Translation_Start_Site|C2orf73_uc010yos.1_RNA	NM_001100396	NP_001093866	Q8N5S3	CB073_HUMAN	hypothetical protein LOC129852	96											0						TACCACCTTACGACTCTAAGA	0.443													T	54570910	C	T	54570910	2	4	191	1	0	0	0	0	0	0	0	1	2192	547	19	1		1	C2orf73	2	54570910	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	403770	54570910	188628463	245	103265											
PNPT1	87178	broad.mit.edu	37	chr2	55870530	55870530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgcaaatacagaaaacGtttcttcatccacctgacta	6	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:55870530G>A	uc002rzf.2	-	24	1990	c.1937C>T	c.(1936-1938)ACG>ATG	p.T646M	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	646	KH.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACAGAAAACGTTTCTTCATC	0.274													A	55870530	G	A	55870530	3	1	191	1	0	0	0	0	1	0	0	0	12173	1145	40	1	434	1	PNPT1	2	55870530	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1299620	55870530	187328843	246	103266											
BCL11A	53335	broad.mit.edu	37	chr2	60689254	60689254	+	Frame_Shift_Del	DEL	G	G	-													tctcggtggtggactaaacaGggggggagtgggtggaaagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:60689253_60689253AG>A	uc002sae.1	-	3	1022	c.794_794CT>T	c.(793-795)ctgfs	p.L265fs	BCL11A_uc002sab.3_Frame_Shift_Del_p.L265fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Frame_Shift_Del_p.L231fs|BCL11A_uc002sad.1_Frame_Shift_Del_p.L113fs|BCL11A_uc002saf.1_Frame_Shift_Del_p.L231fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	265	Pro-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)			TGGACTAAACAGGGGGGGAGT	0.587			T	IGH@	B-CLL								-	60689254	G	-	60689254	7	5	191	1	0	1	0	1	0	0	0	0	1363	991	35	0	1824	0	BCL11A	2	60689254	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	4818724	60689254	182510119	247	103267											
PUS10	150962	broad.mit.edu	37	chr2	61188656	61188656	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacagcgcatacagccttTggtgagtttggaggacaagg	14	7	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:61188656T>C	uc010fci.2	-	10	876	c.816A>G	c.(814-816)CCA>CCG	p.P272P	PUS10_uc002sao.2_Silent_p.P272P|PUS10_uc010ypk.1_Silent_p.P49P	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	272					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATACAGCCTTTGGTGAGTTTG	0.353													C	61188656	T	C	61188656	2	2	191	1	0	0	0	0	0	0	0	1	12831	1799	63	3		3	PUS10	2	61188656	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	499402	61188656	182010717	248	103268											
EHBP1	23301	broad.mit.edu	37	chr2	63176136	63176136	+	Frame_Shift_Del	DEL	A	A	-													cagatccagaatctcctatcAaaaaaacaagtttatctcct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:63176135_63176135CA>C	uc002sby.3	+	13	2741	c.2259_2259CA>C	c.(2257-2259)atcfs	p.I753fs	EHBP1_uc010fcp.3_Frame_Shift_Del_p.I718fs|EHBP1_uc002sbz.3_Frame_Shift_Del_p.I718fs|EHBP1_uc002scb.3_Frame_Shift_Del_p.I718fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	753						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)			AATCTCCTATCAAAAAAACAA	0.368													-	63176136	A	-	63176136	7	5	191	1	0	1	0	1	0	0	0	0	4975	131	5	0	2310	0	EHBP1	2	63176136	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1987480	63176136	180023237	249	103269											
UGP2	7360	broad.mit.edu	37	chr2	64111196	64111196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacagaagtacaatcattgtCgtgtgaaaatctacactttc	6	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:64111196C>T	uc002scm.2	+	5	850	c.544C>T	c.(544-546)CGT>TGT	p.R182C	UGP2_uc002scl.2_Missense_Mutation_p.R171C|UGP2_uc010ypx.1_Missense_Mutation_p.R191C	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	182					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				0						CAATCATTGTCGTGTGAAAAT	0.313													T	64111196	C	T	64111196	3	4	191	1	0	0	0	0	1	0	0	0	16940	884	31	1	562	1	UGP2	2	64111196	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	935060	64111196	179088177	250	103270											
CEP68	23177	broad.mit.edu	37	chr2	65298797	65298797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgctgagcccaggttcCgcagctcagccttccagctg	11	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:65298797C>T	uc002sdl.3	+	3	781	c.567C>T	c.(565-567)TCC>TCT	p.S189S	CEP68_uc002sdj.2_Silent_p.S189S|CEP68_uc010yqb.1_Silent_p.S189S|CEP68_uc002sdk.3_Silent_p.S189S|CEP68_uc010yqc.1_Silent_p.S189S|CEP68_uc010yqd.1_Silent_p.S189S	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	189					centrosome organization	centrosome				skin(1)	1						GCCCAGGTTCCGCAGCTCAGC	0.627													T	65298797	C	T	65298797	2	4	191	1	0	0	0	0	0	0	0	1	3258	639	23	1		1	CEP68	2	65298797	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1187601	65298797	177900576	251	103271											
SPRED2	200734	broad.mit.edu	37	chr2	65541135	65541135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcgcccttggcgaagcGcacgtaggaggagtccgcgt	15	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:65541135G>A	uc002sdr.3	-	6	1292	c.757C>T	c.(757-759)CGC>TGC	p.R253C	SPRED2_uc010fcw.2_Missense_Mutation_p.R250C	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	253	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TTGGCGAAGCGCACGTAGGAG	0.652													A	65541135	G	A	65541135	3	1	191	1	0	0	0	0	1	0	0	0	15092	1087	38	1	503	1	SPRED2	2	65541135	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	242338	65541135	177658238	252	103272											
CLEC4F	165530	broad.mit.edu	37	chr2	71043195	71043195	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcgactctgctcctGctggatttccatggttagag	11	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:71043195G>A	uc002shf.2	-	4	1395	c.1318C>T	c.(1318-1320)CAG>TAG	p.Q440*	CLEC4F_uc010yqv.1_Nonsense_Mutation_p.Q440*	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	440	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						CTCTGCTCCTGCTGGATTTCC	0.517													A	71043195	G	A	71043195	4	1	191	1	0	0	0	0	0	1	0	0	3516	1328	46	2	467	2	CLEC4F	2	71043195	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5502060	71043195	172156178	253	103273											
CD207	50489	broad.mit.edu	37	chr2	71060136	71060137	+	Frame_Shift_Ins	INS	-	-	C													gagaaaagtaatagaagttcINScccttgaagtacttccagcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:71060135_71060136T>TC	uc002shg.3	-	3	659_660	c.612_613A>GA	c.(610-615)gggaacfs	p.G204fs		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	204	C-type lectin.				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						TAATAGAAGTTCCCCTTGAAGT	0.446													C	71060137	-	C	71060136	7	5	191	1	0	1	1	0	0	0	0	0	2983	842	30	0	386	0	CD207	2	71060136	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	16941	71060136	172139237	254	103274											
ALMS1	7840	broad.mit.edu	37	chr2	73676827	73676827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagggagaagcctagtgTtttgtacccacaggtgttat	12	7	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:73676827T>C	uc002sje.1	+	10	3287	c.3176T>C	c.(3175-3177)GTT>GCT	p.V1059A	ALMS1_uc002sjf.1_Missense_Mutation_p.V1015A|ALMS1_uc002sjg.2_Missense_Mutation_p.V445A|ALMS1_uc002sjh.1_Missense_Mutation_p.V445A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1057	34 X 47 AA approximate tandem repeat.|11.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AAGCCTAGTGTTTTGTACCCA	0.498													C	73676827	T	C	73676827	3	2	191	1	0	0	0	0	1	0	0	0	535	1725	60	3	3200	3	ALMS1	2	73676827	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2616691	73676827	169522546	255	103275											
ALMS1	7840	broad.mit.edu	37	chr2	73680921	73680921	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgatgccagtgatggaAatggttcctgctcgtgggac	15	7	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:73680921A>C	uc002sje.1	+	10	7381	c.7270A>C	c.(7270-7272)AAT>CAT	p.N2424H	ALMS1_uc002sjf.1_Missense_Mutation_p.N2380H|ALMS1_uc002sjg.2_Missense_Mutation_p.N1810H|ALMS1_uc002sjh.1_Missense_Mutation_p.N1810H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2422					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CAGTGATGGAAATGGTTCCTG	0.388													C	73680921	A	C	73680921	3	2	191	1	0	0	0	0	1	0	0	0	535	14	1	5	7294	5	ALMS1	2	73680921	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	4094	73680921	169518452	256	103276											
C2orf78	388960	broad.mit.edu	37	chr2	74042785	74042785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagccaaagataccagtGccatcaaggtaaatcaggtg	10	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74042785G>A	uc002sjr.1	+	3	1556	c.1435G>A	c.(1435-1437)GCC>ACC	p.A479T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	479										ovary(2)	2						AGATACCAGTGCCATCAAGGT	0.468													A	74042785	G	A	74042785	3	1	191	1	0	0	0	0	1	0	0	0	2195	1319	46	2	1445	2	C2orf78	2	74042785	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	361864	74042785	169156588	257	103277											
DCTN1	1639	broad.mit.edu	37	chr2	74596483	74596483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgctggtagtctgcaaCcgtctcctgggctgcctcca	12	14	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74596483C>T	uc002skx.2	-	14	1839	c.1528G>A	c.(1528-1530)GTT>ATT	p.V510I	DCTN1_uc002skv.2_Missense_Mutation_p.V376I|DCTN1_uc002sku.2_Missense_Mutation_p.V376I|DCTN1_uc002skw.1_Missense_Mutation_p.V486I|DCTN1_uc010ffd.2_Missense_Mutation_p.V490I|DCTN1_uc002sky.2_Missense_Mutation_p.V473I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	510	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TAGTCTGCAACCGTCTCCTGG	0.622													T	74596483	C	T	74596483	3	4	191	1	0	0	0	0	1	0	0	0	4306	507	18	4	2384	4	DCTN1	2	74596483	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	553698	74596483	168602890	258	103278											
MOGS	7841	broad.mit.edu	37	chr2	74690083	74690084	+	Frame_Shift_Del	DEL	TT	TT	-													accagctatttaggcgactcTttaccatctctgtcagcagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74690082_74690083CTT>C	uc010ffj.3	-	3	996_997	c.833_834AAG>G	c.(832-834)aagfs	p.K278fs	MOGS_uc010ffh.3_Frame_Shift_Del_p.K3fs|MOGS_uc010yrt.2_Frame_Shift_Del_p.K159fs|MOGS_uc010ffi.3_Frame_Shift_Del_p.K172fs|MOGS_uc010yru.1_3'UTR	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	278					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.V277V(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTAGGCGACTCTTTACCATCTC	0.535													-	74690084	TT	-	74690083	7	5	191	1	0	1	0	1	0	0	0	0	9697	1609	56	0	1684	0	MOGS	2	74690083	Frame_Shift_Del	DEL	TT	TCGA-CG-5723-01A-11D-1600-08	93600	74690083	168509290	259	103279											
AUP1	550	broad.mit.edu	37	chr2	74756072	74756074	+	In_Frame_Del	DEL	AGG	AGG	-													ttgagtagaggctgggaaccAggagaagagaaagcaagaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74756071_74756073CAGG>C	uc002smh.3	-	2	743_745	c.56_58CCTG>G	c.(55-60)cctggt>cGgt	p.19_20PG>R	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Intron|AUP1_uc002smg.3_Intron|AUP1_uc010yrx.2_Intron|AUP1_uc021vjm.1_In_Frame_Del_p.19_20PG>R|AUP1_uc010yry.2_3'UTR|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	176						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GGCTGGGAACCAGGAGAAGAGAA	0.493													-	74756074	AGG	-	74756072	7	5	191	1	0	1	0	1	0	0	0	0	1220	203	7	0		0	AUP1	2	74756072	In_Frame_Del	DEL	AGG	TCGA-CG-5723-01A-11D-1600-08	65989	74756072	168443301	260	103280											
CTNNA2	1496	broad.mit.edu	37	chr2	80085186	80085186	+	Missense_Mutation	SNP	T	T	A													agtttgcagatgacccttgcTcgtcggtaaagcgcggcacc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:80085186T>A	uc010ysh.1	+	3	351	c.346T>A	c.(346-348)TCG>ACG	p.S116T	CTNNA2_uc010yse.1_Missense_Mutation_p.S116T|CTNNA2_uc010ysf.1_Missense_Mutation_p.S116T|CTNNA2_uc010ysg.1_Missense_Mutation_p.S116T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	116					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGACCCTTGCTCGTCGGTAAA	0.592													A	80085186	T	A	80085186	3	1	191	1	0	0	0	0	1	0	0	0	4013	1551	54	5	356	5	CTNNA2	2	80085186	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	5329114	80085186	163114187	261	103281	496	2									
CTNNA2	1496	broad.mit.edu	37	chr2	80085188	80085188	+	Silent	SNP	G	G	A													tttgcagatgacccttgctcGtcggtaaagcgcggcaccat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:80085188G>A	uc010ysh.1	+	3	353	c.348G>A	c.(346-348)TCG>TCA	p.S116S	CTNNA2_uc010yse.1_Silent_p.S116S|CTNNA2_uc010ysf.1_Silent_p.S116S|CTNNA2_uc010ysg.1_Silent_p.S116S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	116					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						ACCCTTGCTCGTCGGTAAAGC	0.582													A	80085188	G	A	80085188	2	1	191	1	0	0	0	0	0	0	0	1	4013	1132	40	1		1	CTNNA2	2	80085188	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2	80085188	163114185	262	103282	496	2									
LRRTM1	347730	broad.mit.edu	37	chr2	80530111	80530111	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggactgcaggtgcggcacGgtctcgaacacatggggctc	16	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:80530111G>T	uc002sok.1	-	2	1104	c.834C>A	c.(832-834)ACC>ACA	p.T278T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	278	LRR 8.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GGTGCGGCACGGTCTCGAACA	0.587										HNSCC(69;0.2)			T	80530111	G	T	80530111	2	4	191	1	0	0	0	0	0	0	0	1	9039	1103	39	5		5	LRRTM1	2	80530111	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	444923	80530111	162669262	263	103283											
RETSAT	54884	broad.mit.edu	37	chr2	85571291	85571291	+	Splice_Site	DEL	G	G	-													tgatcatggtggaccggcctGgggatcagagctgatattac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:85571290_85571290TG>T	uc002spd.3	-	9	1558	c.1367_splice	c.e9-1	p.G456_splice	RETSAT_uc010fge.3_Intron|RETSAT_uc010ysm.2_Splice_Site_p.G395_splice	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	456					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)	TGGACCGGCCTGGGGATCAGA	0.617													-	85571291	G	-	85571291	8	5	191	1	0	1	0	1	0	0	1	0	13238	1363	47	0		0	RETSAT	2	85571291	Splice_Site	DEL	G	TCGA-CG-5723-01A-11D-1600-08	5041180	85571291	157628082	264	103284											
ELMOD3	84173	broad.mit.edu	37	chr2	85598687	85598687	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctgggctttcagggTaagagggaggagtagctcat	17	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:85598687T>C	uc002spf.3	+	11	1272	c.607_splice	c.e11+2	p.G203_splice	ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Splice_Site_p.G203_splice|ELMOD3_uc002sph.3_Splice_Site_p.G203_splice|ELMOD3_uc010ysn.1_Splice_Site_p.G203_splice|ELMOD3_uc010yso.1_Splice_Site|ELMOD3_uc010ysp.1_Intron	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b						phagocytosis	cytoskeleton				ovary(2)	2						GCTTTCAGGGTAAGAGGGAGG	0.527													C	85598687	T	C	85598687	5	2	191	1	0	0	0	0	0	0	1	0	5070	1652	57	3	635	3	ELMOD3	2	85598687	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	27396	85598687	157600686	265	103285											
SFTPB	6439	broad.mit.edu	37	chr2	85893744	85893744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcagccctcacagtcTggttctggaagtagtcgatg	12	10	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:85893744T>C	uc002sqh.2	-	4	395	c.389A>G	c.(388-390)CAG>CGG	p.Q130R	SFTPB_uc002sqi.2_Missense_Mutation_p.Q142R|SFTPB_uc002sqj.2_Missense_Mutation_p.Q130R	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	130	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						CCTCACAGTCTGGTTCTGGAA	0.622													C	85893744	T	C	85893744	3	2	191	1	0	0	0	0	1	0	0	0	14191	1580	55	3	784	3	SFTPB	2	85893744	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	295057	85893744	157305629	266	103286											
MRPL35	51318	broad.mit.edu	37	chr2	86437712	86437712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttagataaaatgacgaCgtccttctggaagaggcgaa	10	8	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:86437712C>T	uc002srg.3	+	4	546	c.488C>T	c.(487-489)ACG>ATG	p.T163M	MRPL35_uc002srf.3_Missense_Mutation_p.T163M	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	163					translation	mitochondrial ribosome	structural constituent of ribosome				0						AAAATGACGACGTCCTTCTGG	0.373													T	86437712	C	T	86437712	3	4	191	1	0	0	0	0	1	0	0	0	9798	536	19	1	502	1	MRPL35	2	86437712	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	543968	86437712	156761661	267	103287											
MRPS5	64969	broad.mit.edu	37	chr2	95753233	95753233	+	Frame_Shift_Del	DEL	G	G	-													atccttcctcaagggcccccGgggggacgcaaccacaatgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:95753232_95753232CG>C	uc002sub.3	-	11	1381	c.1163_1163CG>G	c.(1162-1164)cggfs	p.R388fs	MRPS5_uc002suc.3_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	388					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome	p.R388L(2)|p.P387L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAAGGGCCCCCGGGGGGACGC	0.562													-	95753233	G	-	95753233	7	5	191	1	0	1	0	1	0	0	0	0	9846	1115	39	0	134	0	MRPS5	2	95753233	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	9315521	95753233	147446140	268	103288											
KCNIP3	30818	broad.mit.edu	37	chr2	96040058	96040058	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccagatagcagcgacagtGagctggagctgtccacggtg	14	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:96040058G>A	uc002sup.2	+	3	311	c.196G>A	c.(196-198)GAG>AAG	p.E66K	KCNIP3_uc002suq.2_Missense_Mutation_p.E40K	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	66					apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		CAGCGACAGTGAGCTGGAGCT	0.612													A	96040058	G	A	96040058	3	1	191	1	0	0	0	0	1	0	0	0	8041	1291	45	4	313	4	KCNIP3	2	96040058	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	286825	96040058	147159315	269	103289											
TMEM127	55654	broad.mit.edu	37	chr2	96919660	96919660	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctgctcctcttcctcTgtggggtagtggcgcaggag	15	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:96919660T>G	uc002svq.2	-	4	860	c.603A>C	c.(601-603)ACA>ACC	p.T201T	TMEM127_uc002svr.2_Silent_p.T201T	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	201					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0						CCTCTTCCTCTGTGGGGTAGT	0.607									Pheochromocytoma_(Adrenal)_Familial				G	96919660	T	G	96919660	2	3	191	1	0	0	0	0	0	0	0	1	16037	1567	55	5		5	TMEM127	2	96919660	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	879602	96919660	146279713	270	103290											
SNRNP200	23020	broad.mit.edu	37	chr2	96943411	96943411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagggctgagccacccatTgctggaaaggacatccacgc	12	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:96943411T>C	uc002svu.2	-	41	5883	c.5797A>G	c.(5797-5799)AAT>GAT	p.N1933D	SNRNP200_uc002svt.2_Missense_Mutation_p.N543D|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1933	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						AGCCACCCATTGCTGGAAAGG	0.552													C	96943411	T	C	96943411	3	2	191	1	0	0	0	0	1	0	0	0	14852	1812	63	3	633	3	SNRNP200	2	96943411	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	23751	96943411	146255962	271	103291											
NCAPH	23397	broad.mit.edu	37	chr2	97008988	97008988	+	Frame_Shift_Del	DEL	G	G	-													ccgatgtatacagagtccttGgggggctgggcaaagatgca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:97008987_97008987TG>T	uc002svz.1	+	4	624	c.540_540TG>T	c.(538-540)cttfs	p.L180fs	NCAPH_uc010fhu.1_Frame_Shift_Del_p.L156fs|NCAPH_uc010fhv.1_Frame_Shift_Del_p.L169fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.L156fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.L44fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	180					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACAGAGTCCTTGGGGGGCTGG	0.527													-	97008988	G	-	97008988	7	5	191	1	0	1	0	1	0	0	0	0	10209	1348	47	0	559	0	NCAPH	2	97008988	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	65577	97008988	146190385	272	103292											
CNNM4	26504	broad.mit.edu	37	chr2	97463265	97463265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctgacaaccgaagccGgaagcgggtgtctgagaaga	16	9	1	3	rs148365594		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:97463265G>A	uc002swx.2	+	3	1660	c.1562G>A	c.(1561-1563)CGG>CAG	p.R521Q	CNNM4_uc010yuy.1_Missense_Mutation_p.R8Q|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	521					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						AACCGAAGCCGGAAGCGGGTG	0.572													A	97463265	G	A	97463265	3	1	191	1	0	0	0	0	1	0	0	0	3615	1116	39	1	1572	1	CNNM4	2	97463265	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	454277	97463265	145736108	273	103293											
RNF149	284996	broad.mit.edu	37	chr2	101910512	101910512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtatgaagtagaagctgGccaataactttcttagtttc	8	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:101910512G>A	uc002taz.1	-	3	846	c.744C>T	c.(742-744)GGC>GGT	p.G248G	RNF149_uc002tax.1_RNA	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	ring finger protein 149 precursor	248						integral to membrane	ligase activity|zinc ion binding			ovary(1)|breast(1)	2						GTAGAAGCTGGCCAATAACTT	0.289													A	101910512	G	A	101910512	2	1	191	1	0	0	0	0	0	0	0	1	13450	1190	42	2		2	RNF149	2	101910512	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4447247	101910512	141288861	274	103294											
NCK2	8440	broad.mit.edu	37	chr2	106497880	106497880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggcagcggcgccgaccGcatctacgacctcaacatcc	9	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:106497880G>A	uc002tdg.2	+	4	765	c.323G>A	c.(322-324)CGC>CAC	p.R108H	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.R108H	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	108					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			ovary(1)|lung(1)	2						GGCGCCGACCGCATCTACGAC	0.677													A	106497880	G	A	106497880	3	1	191	1	0	0	0	0	1	0	0	0	10220	1087	38	1	329	1	NCK2	2	106497880	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4587368	106497880	136701493	275	103295											
SH3RF3	344558	broad.mit.edu	37	chr2	109964227	109964227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggacatcatcgtcctgcGgcgcaaggtggatgaacagt	16	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:109964227G>A	uc010ywt.1	+	2	671	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	224	SH3 1.						zinc ion binding			ovary(1)	1						ATCGTCCTGCGGCGCAAGGTG	0.602													A	109964227	G	A	109964227	3	1	191	1	0	0	0	0	1	0	0	0	14260	1116	39	1	677	1	SH3RF3	2	109964227	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3466347	109964227	133235146	276	103296											
ANAPC1	64682	broad.mit.edu	37	chr2	112608477	112608477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtccaggaataaaaAcctttcccacctttaagcaa	6	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:112608477A>G	uc002thi.2	-	14	1773	c.1526T>C	c.(1525-1527)GTT>GCT	p.V509A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	509					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				skin(2)	2						AGGAATAAAAACCTTTCCCAC	0.378													G	112608477	A	G	112608477	3	3	191	1	0	0	0	0	1	0	0	0	598	43	2	3	4448	3	ANAPC1	2	112608477	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2644250	112608477	130590896	277	103297											
ZC3H6	376940	broad.mit.edu	37	chr2	113089479	113089479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacatgcatcaaagggtgCccctcacttacccagatcaa	6	14	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:113089479C>T	uc002thq.1	+	12	3378	c.2984C>T	c.(2983-2985)GCC>GTC	p.A995V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	995							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TCAAAGGGTGCCCCTCACTTA	0.488													T	113089479	C	T	113089479	3	4	191	1	0	0	0	0	1	0	0	0	17568	739	26	2	3030	2	ZC3H6	2	113089479	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	481002	113089479	130109894	278	103298											
RGPD5	84220	broad.mit.edu	37	chr2	113147712	113147712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcattttcaagaggctttTcccttttcttttcttgattt	4	8	4	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:113147712T>C	uc002ths.1	-	20	2887	c.2810A>G	c.(2809-2811)GAA>GGA	p.E937G	RGPD8_uc010fkk.1_Missense_Mutation_p.E797G|RGPD5_uc002tht.1_Missense_Mutation_p.E188G	NM_005054	NP_005045	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5 isoform	937					intracellular transport	cytoplasm	binding				0						AAGAGGCTTTTCCCTTTTCTT	0.418													C	113147712	T	C	113147712	3	2	191	1	0	0	0	0	1	0	0	0	13289	1783	62	3	13517	3	RGPD5	2	113147712	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	58233	113147712	130051661	279	103299											
CKAP2L	150468	broad.mit.edu	37	chr2	113520087	113520087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagataaactcacttggtgtTttggctcttcagttttccct	7	10	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:113520087T>A	uc002tie.2	-	2	176	c.97A>T	c.(97-99)AAC>TAC	p.N33Y	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	33						centrosome					0						CACTTGGTGTTTTGGCTCTTC	0.418													A	113520087	T	A	113520087	3	1	191	1	0	0	0	0	1	0	0	0	3443	1841	64	5	2172	5	CKAP2L	2	113520087	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	372375	113520087	129679286	280	103300											
TFCP2L1	29842	broad.mit.edu	37	chr2	121997154	121997154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgccgaggccaaagctGtttggagaaccattgtagct	11	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:121997154G>A	uc002tmx.2	-	8	933	c.840C>T	c.(838-840)AAC>AAT	p.N280N	TFCP2L1_uc010flr.2_Silent_p.N280N	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	280					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					GGCCAAAGCTGTTTGGAGAAC	0.577													A	121997154	G	A	121997154	2	1	191	1	0	0	0	0	0	0	0	1	15793	1368	48	4		4	TFCP2L1	2	121997154	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	8477067	121997154	121202219	281	103301											
CLASP1	23332	broad.mit.edu	37	chr2	122286272	122286272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggggattagcagcttgaTccatgatctttagcagcaga	11	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:122286272T>C	uc002tnc.2	-	4	749	c.359A>G	c.(358-360)GAT>GGT	p.D120G	CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D120G|CLASP1_uc010yza.1_Missense_Mutation_p.D120G|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.D120G|RNU4ATAC_uc010yzd.1_5'Flank	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	120	HEAT 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			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					AGCAGCTTGATCCATGATCTT	0.507													C	122286272	T	C	122286272	3	2	191	1	0	0	0	0	1	0	0	0	3454	1435	50	3	4457	3	CLASP1	2	122286272	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	289118	122286272	120913101	282	103302											
IWS1	55677	broad.mit.edu	37	chr2	128249666	128249666	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcacactaggcagcTggggaacataaacacataca	9	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:128249666T>C	uc002ton.2	-	10	2233	c.1930_splice	c.e10-1	p.L644_splice	IWS1_uc010yzl.1_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog						transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTAGGCAGCTGGGGAACATA	0.458													C	128249666	T	C	128249666	5	2	191	1	0	0	0	0	0	0	1	0	7931	1594	55	3	551	3	IWS1	2	128249666	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	5963394	128249666	114949707	283	103303											
IWS1	55677	broad.mit.edu	37	chr2	128250886	128250886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcagctcctcccGgatcttgagtgcaggcaaac	10	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:128250886G>A	uc002ton.2	-	9	2203	c.1900C>T	c.(1900-1902)CGG>TGG	p.R634W	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	634	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGCTCCTCCCGGATCTTGAGT	0.443													A	128250886	G	A	128250886	3	1	191	1	0	0	0	0	1	0	0	0	7931	1115	39	1	583	1	IWS1	2	128250886	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1220	128250886	114948487	284	103304											
WDR33	55339	broad.mit.edu	37	chr2	128477655	128477655	+	Frame_Shift_Del	DEL	C	C	-													ggtcccatgaatccttgtggCcccccacctccctgatgcag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:128477654_128477654GC>G	uc002tpg.2	-	15	2144	c.1945_1945GC>C	c.(1945-1947)ccafs	p.P649fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	649	Collagen-like.				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)		AATCCTTGTGGCCCCCCACCT	0.647													-	128477655	C	-	128477655	7	5	191	1	0	1	0	1	0	0	0	0	17284	726	26	0	2094	0	WDR33	2	128477655	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	226769	128477655	114721718	285	103305											
FAM128A	653784	broad.mit.edu	37	chr2	132241708	132241708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcgctgggctggcgtgGcatcctctggctggatccct	16	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:132241708G>A	uc002tsw.3	-	3	518	c.403C>T	c.(403-405)CCA>TCA	p.P135S	FAM128A_uc002tsv.3_RNA	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	hypothetical protein LOC653784	135						centrosome|gamma-tubulin ring complex|spindle					0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCTGGCGTGGCATCCTCTGG	0.647													A	132241708	G	A	132241708	3	1	191	1	0	0	0	0	1	0	0	0	5434	1203	42	2	77	2	FAM128A	2	132241708	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3764053	132241708	110957665	286	103306											
GPR39	2863	broad.mit.edu	37	chr2	133174929	133174929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaccacgtccagctacaCcctgtcctgcaagctgcaca	7	18	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:133174929C>A	uc002ttl.2	+	1	783	c.314C>A	c.(313-315)ACC>AAC	p.T105N		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	105	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TCCAGCTACACCCTGTCCTGC	0.557													A	133174929	C	A	133174929	3	1	191	1	0	0	0	0	1	0	0	0	6693	507	18	5	316	5	GPR39	2	133174929	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	933221	133174929	110024444	287	103307											
NCKAP5	344148	broad.mit.edu	37	chr2	133540971	133540971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttttcagtcctttctcaTgagcactttgacaaccatga	7	10	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:133540971T>C	uc002ttp.2	-	14	3787	c.3413A>G	c.(3412-3414)CAT>CGT	p.H1138R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1138							protein binding				0						TCCTTTCTCATGAGCACTTTG	0.498													C	133540971	T	C	133540971	3	2	191	1	0	0	0	0	1	0	0	0	10223	1464	51	3	2344	3	NCKAP5	2	133540971	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	366042	133540971	109658402	288	103308											
MCM6	4175	broad.mit.edu	37	chr2	136610462	136610462	+	Frame_Shift_Del	DEL	C	C	-													gaatgcaaatctactatgcgCctggcaatggcataatctgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:136610461_136610461GC>G	uc002tuw.3	-	11	1727	c.1651_1651GC>C	c.(1651-1653)cgcfs	p.R551fs		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	551	MCM.				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|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding	p.R551H(1)		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)	TCTACTATGCGCCTGGCAATG	0.363													-	136610462	C	-	136610462	7	5	191	1	0	1	0	1	0	0	0	0	9391	738	26	0	839	0	MCM6	2	136610462	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	3069491	136610462	106588911	289	103309											
LRP1B	53353	broad.mit.edu	37	chr2	141032034	141032034	+	Frame_Shift_Del	DEL	C	C	-													tctttatttataatgcagtgCcccccatggcaccttacaca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:141032033_141032033GC>G	uc002tvj.1	-	84	14074	c.13102_13102GC>C	c.(13102-13104)cacfs	p.H4368fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4368					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4367R(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)		ATAATGCAGTGCCCCCCATGG	0.418										TSP Lung(27;0.18)			-	141032034	C	-	141032034	7	5	191	1	0	1	0	1	0	0	0	0	8955	726	26	0	726	0	LRP1B	2	141032034	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	4421572	141032034	102167339	290	103310											
KYNU	8942	broad.mit.edu	37	chr2	143713778	143713778	+	Frame_Shift_Del	DEL	T	T	-													ccattttattgcagttatcaTtttttaagcctacgccaaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:143713777_143713777AT>A	uc010fnm.3	+	6	657	c.441_441AT>A	c.(439-441)tcafs	p.S147fs	KYNU_uc002tvk.3_Frame_Shift_Del_p.S147fs|KYNU_uc002tvl.3_Frame_Shift_Del_p.S147fs	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	147					NAD biosynthetic process|anthranilate metabolic 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)	TGCAGTTATCATTTTTTAAGC	0.284													-	143713778	T	-	143713778	7	5	191	1	0	1	0	1	0	0	0	0	8587	1493	52	0	460	0	KYNU	2	143713778	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2681744	143713778	99485595	291	103311											
KIF5C	3800	broad.mit.edu	37	chr2	149806952	149806952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgaggctgagaccaAgtccacactgatgttcggac	10	11	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:149806952A>G	uc010zbu.1	+	10	1312	c.944A>G	c.(943-945)AAG>AGG	p.K315R	KIF5C_uc002tws.1_RNA	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	315	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTGAGACCAAGTCCACACTG	0.473													G	149806952	A	G	149806952	3	3	191	1	0	0	0	0	1	0	0	0	8307	72	3	3	904	3	KIF5C	2	149806952	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	6093174	149806952	93392421	292	103312											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284													-	152112048	T	-	152112048	8	5	191	1	0	1	0	1	0	0	1	0	13137	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2305096	152112048	91087325	293	103313											
CACNB4	785	broad.mit.edu	37	chr2	152695721	152695721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggtatgagtcagggTaatcttcttccacaagaggg	12	8	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:152695721T>C	uc002tya.2	-	14	1543	c.1475A>G	c.(1474-1476)TAC>TGC	p.Y492C	CACNB4_uc002txy.2_Missense_Mutation_p.Y458C|CACNB4_uc002txz.2_Missense_Mutation_p.Y474C|CACNB4_uc010fnz.2_Missense_Mutation_p.Y430C	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	492					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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGAGTCAGGGTAATCTTCTTC	0.468													C	152695721	T	C	152695721	3	2	191	1	0	0	0	0	1	0	0	0	2555	1638	57	3	91	3	CACNB4	2	152695721	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	583673	152695721	90503652	294	103314											
CACNB4	785	broad.mit.edu	37	chr2	152737372	152737372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtgcttggaacaggcAcatcctcgtccagggcgccg	13	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:152737372A>G	uc002tya.2	-	4	400	c.332T>C	c.(331-333)GTG>GCG	p.V111A	CACNB4_uc002txy.2_Missense_Mutation_p.V77A|CACNB4_uc002txz.2_Missense_Mutation_p.V93A|CACNB4_uc010fnz.2_Missense_Mutation_p.V111A|CACNB4_uc002tyb.2_Missense_Mutation_p.V77A	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	111					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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGGAACAGGCACATCCTCGTC	0.463													G	152737372	A	G	152737372	3	3	191	1	0	0	0	0	1	0	0	0	2555	159	6	3	1274	3	CACNB4	2	152737372	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	41651	152737372	90462001	295	103315											
KCNJ3	3760	broad.mit.edu	37	chr2	155555962	155555962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaacagccacatggtctcCgcgcagattcgctgcaagct	10	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:155555962C>T	uc002tyv.1	+	1	870	c.675C>T	c.(673-675)TCC>TCT	p.S225S	KCNJ3_uc010zce.1_Silent_p.S225S	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	225	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	ACATGGTCTCCGCGCAGATTC	0.607													T	155555962	C	T	155555962	2	4	191	1	0	0	0	0	0	0	0	1	8052	639	23	1		1	KCNJ3	2	155555962	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2818590	155555962	87643411	296	103316											
KCNJ3	3760	broad.mit.edu	37	chr2	155711297	155711297	+	Frame_Shift_Del	DEL	T	T	-													gaagttctttggggtcatcgTttttttcctgtaatttcctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:155711296_155711296GT>G	uc002tyv.1	+	2	1172	c.977_977GT>G	c.(976-978)cgtfs	p.R326fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	326					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)	TGGGGTCATCGTTTTTTTCCT	0.378													-	155711297	T	-	155711297	7	5	191	1	0	1	0	1	0	0	0	0	8052	1712	60	0	988	0	KCNJ3	2	155711297	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	155335	155711297	87488076	297	103317											
TANC1	85461	broad.mit.edu	37	chr2	160087129	160087129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcatggataagactgCgaggttccaacagcagagca	13	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:160087129C>T	uc002uag.2	+	27	5466	c.5192C>T	c.(5191-5193)GCG>GTG	p.A1731V	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.A575V	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1731						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GATAAGACTGCGAGGTTCCAA	0.557													T	160087129	C	T	160087129	3	4	191	1	0	0	0	0	1	0	0	0	15541	768	27	1	5295	1	TANC1	2	160087129	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4375832	160087129	83112244	298	103318											
TBR1	10716	broad.mit.edu	37	chr2	162274319	162274319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaatgggttccttgcggCaaagcggacaccaatgtgca	13	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:162274319C>T	uc002ubw.1	+	2	1127	c.825C>T	c.(823-825)GGC>GGT	p.G275G	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	275	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G275C(1)		ovary(1)|central_nervous_system(1)	2						TTCCTTGCGGCAAAGCGGACA	0.443													T	162274319	C	T	162274319	2	4	191	1	0	0	0	0	0	0	0	1	15644	697	25	2		2	TBR1	2	162274319	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2187190	162274319	80925054	299	103319											
COBLL1	22837	broad.mit.edu	37	chr2	165578962	165578962	+	Frame_Shift_Del	DEL	A	A	-													cgctttttcttactgcgttgAaaaaaactgaaaaacccttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:165578961_165578961GA>G	uc002ucp.3	-	4	955	c.733_733TC>C	c.(733-735)caafs	p.Q245fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.Q245fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.Q311fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.Q291fs|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Frame_Shift_Del_p.Q14fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	283										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						TTACTGCGTTGAAAAAAACTG	0.269													-	165578962	A	-	165578962	7	5	191	1	0	1	0	1	0	0	0	0	3654	243	9	0	2808	0	COBLL1	2	165578962	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	3304643	165578962	77620411	300	103320											
LRP2	4036	broad.mit.edu	37	chr2	170044552	170044552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcatctcgatgcagcGcccattgtcacacttgaact	6	13	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170044552G>A	uc002ues.2	-	49	9469	c.9256C>T	c.(9256-9258)CGC>TGC	p.R3086C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3086	Extracellular (Potential).|LDL-receptor class A 25.				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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	TCGATGCAGCGCCCATTGTCA	0.507													A	170044552	G	A	170044552	3	1	191	1	0	0	0	0	1	0	0	0	8956	1087	38	1	4835	1	LRP2	2	170044552	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4465590	170044552	73154821	301	103321											
LRP2	4036	broad.mit.edu	37	chr2	170127462	170127462	+	Frame_Shift_Del	DEL	A	A	-													catgtgttttgacatatctgAaaaaaagatagtgctgtcct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170127461_170127461GA>G	uc002ues.3	-	15	2486	c.2273_2273TC>C	c.(2272-2274)tcafs	p.S758fs	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	758					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	TGACATATCTGAAAAAAAGAT	0.418													-	170127462	A	-	170127462	7	5	191	1	0	1	0	1	0	0	0	0	8956	246	9	0	11951	0	LRP2	2	170127462	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	82910	170127462	73071911	302	103322											
PPIG	9360	broad.mit.edu	37	chr2	170460581	170460581	+	Frame_Shift_Del	DEL	T	T	-													aaggttcaacgtcctcgatgTttttttgacattgccattaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170460580_170460580GT>G	uc002uez.3	+	2	249	c.29_29GT>G	c.(28-30)tgtfs	p.C10fs	PPIG_uc010fpx.3_Frame_Shift_Del_p.C10fs|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Frame_Shift_Del_p.C10fs|PPIG_uc002ufb.3_Frame_Shift_Del_p.C10fs|PPIG_uc002ufc.1_Frame_Shift_Del_p.C10fs|PPIG_uc002ufd.3_Frame_Shift_Del_p.C10fs	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	10					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGTCCTCGATGTTTTTTTGAC	0.308													-	170460581	T	-	170460581	7	5	191	1	0	1	0	1	0	0	0	0	12324	1731	60	0	32	0	PPIG	2	170460581	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	333119	170460581	72738792	303	103323											
UBR3	130507	broad.mit.edu	37	chr2	170806462	170806462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttactaaaagctgcatcGcaaagtagaatgaacaaacg	7	7	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170806462G>A	uc010zdi.1	+	23	3432	c.3432G>A	c.(3430-3432)TCG>TCA	p.S1144S	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_5'UTR|UBR3_uc002uft.3_5'UTR	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1144					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						AAGCTGCATCGCAAAGTAGAA	0.383													A	170806462	G	A	170806462	2	1	191	1	0	0	0	0	0	0	0	1	16900	1074	38	1		1	UBR3	2	170806462	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	345881	170806462	72392911	304	103324											
ITGA6	3655	broad.mit.edu	37	chr2	173335733	173335733	+	Frame_Shift_Del	DEL	T	T	-													gtagagcaaaagaataacacTttttttgacatgaacatctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:173335732_173335732CT>C	uc002uhp.1	+	4	877	c.674_674CT>C	c.(673-675)actfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Del_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Del_p.T225fs|ITGA6_uc010fql.2_Non-coding_Transcript	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	225					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)			AAGAATAACACTTTTTTTGAC	0.343													-	173335733	T	-	173335733	7	5	191	1	0	1	0	1	0	0	0	0	7880	1596	56	0	693	0	ITGA6	2	173335733	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2529271	173335733	69863640	305	103325											
ITGA6	3655	broad.mit.edu	37	chr2	173368931	173368931	+	Frame_Shift_Del	DEL	A	A	-													aaagtatattgataaccttgAaaaaaaacagtggatcacaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:173368931delA	uc002uhp.1	+	25	3430	c.3227delA	c.(3226-3228)GAAfs	p.E1076fs	ITGA6_uc010zdy.1_3'UTR|ITGA6_uc002uho.1_3'UTR|ITGA6_uc010fqm.1_3'UTR	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	1115	Cytoplasmic (Potential).				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			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAACCTTGAAAAAAAACAG	0.408													-	173368931	A	-	173368931	7	5	191	1	0	1	0	1	0	0	0	0	7880	246	9	0	3437	0	ITGA6	2	173368931	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	33198	173368931	69830442	306	103326											
WIPF1	7456	broad.mit.edu	37	chr2	175432803	175432803	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggtgggagggggccTggagcaaaaaaagacactta	18	5	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:175432803T>C	uc002uiy.2	-	7	1462	c.1130_splice	c.e7-1	p.G377_splice	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Splice_Site_p.G377_splice|WIPF1_uc010fqt.1_Splice_Site_p.G377_splice|WIPF1_uc002uiz.2_Splice_Site_p.G377_splice|WIPF1_uc002ujb.1_Splice_Site_p.G377_splice	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1						actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GGAGGGGGCCTGGAGCAAAAA	0.552													C	175432803	T	C	175432803	5	2	191	1	0	0	0	0	0	0	1	0	17364	1594	55	3	395	3	WIPF1	2	175432803	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2063872	175432803	67766570	307	103327											
ATF2	1386	broad.mit.edu	37	chr2	175982979	175982979	+	Splice_Site	DEL	T	T	-													atttcatggttacaacatacTtttttaatgtcatcttctga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:175982978_175982978CT>C	uc002ujl.3	-	6	580	c.318_splice	c.e6+1	p.K106_splice	ATF2_uc002ujv.3_Splice_Site|ATF2_uc002ujm.3_Splice_Site_p.K48_splice|ATF2_uc002uju.3_Splice_Site|ATF2_uc002ujn.3_Splice_Site|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Splice_Site|ATF2_uc002ujq.3_Splice_Site_p.K106_splice|ATF2_uc010fqu.3_Splice_Site_p.K88_splice|ATF2_uc002ujr.3_Splice_Site|ATF2_uc002ujs.3_Splice_Site_p.K48_splice|ATF2_uc002ujt.3_Splice_Site|ATF2_uc010fqv.3_Splice_Site_p.K57_splice|ATF2_uc002ujw.1_Splice_Site_p.K48_splice|ATF2_uc002ujx.1_Splice_Site|ATF2_uc002ujy.1_Splice_Site_p.K106_splice	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	106					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTACAACATACTTTTTTAATG	0.303													-	175982979	T	-	175982979	8	5	191	1	0	1	0	1	0	0	1	0	1080	1623	56	0	1235	0	ATF2	2	175982979	Splice_Site	DEL	T	TCGA-CG-5723-01A-11D-1600-08	550176	175982979	67216394	308	103328											
HOXD9	3235	broad.mit.edu	37	chr2	176987564	176987564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcaactactacgtggActcgcttataggccatgagg	10	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:176987564A>G	uc010zex.1	+	1	152	c.68A>G	c.(67-69)GAC>GGC	p.D23G		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	23						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TACTACGTGGACTCGCTTATA	0.687													G	176987564	A	G	176987564	3	3	191	1	0	0	0	0	1	0	0	0	7326	275	10	3	70	3	HOXD9	2	176987564	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1004585	176987564	66211809	309	103329											
TTN	7273	broad.mit.edu	37	chr2	179422756	179422756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatctcccagcgtcagctgTaacactttctttgagattga	7	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179422756T>C	uc010zfg.1	-	277	79845	c.79621A>G	c.(79621-79623)ACA>GCA	p.T26541A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T20236A|TTN_uc010zfi.1_Missense_Mutation_p.T20169A|TTN_uc010zfj.1_Missense_Mutation_p.T20044A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27468							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGTCAGCTGTAACACTTTCT	0.448													C	179422756	T	C	179422756	3	2	191	1	0	0	0	0	1	0	0	0	16732	1638	57	3	20794	3	TTN	2	179422756	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2435192	179422756	63776617	310	103330											
TTN	7273	broad.mit.edu	37	chr2	179424814	179424814	+	Frame_Shift_Del	DEL	G	G	-													ctacagtatatccagttatcGgggccccaccatcaaacagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179424813_179424813CG>C	uc021vsy.1	-	274	78567	c.78342_78342CG>G	c.(78340-78342)ccgfs	p.P26114fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.P19809fs|TTN_uc021vta.1_Frame_Shift_Del_p.P19742fs|TTN_uc021vtb.1_Frame_Shift_Del_p.P19617fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27041	Ig-like 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T26114T(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)			ATCCAGTTATCGGGGCCCCAC	0.433													-	179424814	G	-	179424814	7	5	191	1	0	1	0	1	0	0	0	0	16732	1116	39	0	22082	0	TTN	2	179424814	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2058	179424814	63774559	311	103331											
TTN	7273	broad.mit.edu	37	chr2	179474066	179474066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctttttgctgttgtcaAtactcaaacgctgtgtcaga	7	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179474066A>G	uc010zfg.1	-	222	44491	c.44267T>C	c.(44266-44268)ATT>ACT	p.I14756T	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8451T|TTN_uc010zfi.1_Missense_Mutation_p.I8384T|TTN_uc010zfj.1_Missense_Mutation_p.I8259T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15683							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTTGTCAATACTCAAACG	0.458													G	179474066	A	G	179474066	3	3	191	1	0	0	0	0	1	0	0	0	16732	101	4	3	56082	3	TTN	2	179474066	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	49252	179474066	63725307	312	103332											
TTN	7273	broad.mit.edu	37	chr2	179474465	179474465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaaggttcactaatacCcgcggcgttctctgctcgca	10	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179474465C>A	uc010zfg.1	-	221	44205	c.43981G>T	c.(43981-43983)GGT>TGT	p.G14661C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8356C|TTN_uc010zfi.1_Missense_Mutation_p.G8289C|TTN_uc010zfj.1_Missense_Mutation_p.G8164C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15588							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTAATACCCGCGGCGTTC	0.463													A	179474465	C	A	179474465	3	1	191	1	0	0	0	0	1	0	0	0	16732	623	22	5	56372	5	TTN	2	179474465	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	399	179474465	63724908	313	103333											
TTN	7273	broad.mit.edu	37	chr2	179484758	179484758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcctgtcttctaccccGcaagcatattcacactcatc	4	16	4	0	rs147703145	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179484758G>A	uc010zfg.1	-	198	38906	c.38682C>T	c.(38680-38682)TGC>TGT	p.C12894C	TTN_uc010zfh.1_Silent_p.C6589C|TTN_uc010zfi.1_Silent_p.C6522C|TTN_uc010zfj.1_Silent_p.C6397C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13821							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTACCCCGCAAGCATATT	0.333													A	179484758	G	A	179484758	2	1	191	1	0	0	0	0	0	0	0	1	16732	1079	38	1		1	TTN	2	179484758	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	10293	179484758	63714615	314	103334											
TTN	7273	broad.mit.edu	37	chr2	179498235	179498235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttttgatttttaagatgCggcgcaggccatctgccttg	10	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179498235C>T	uc010zfg.1	-	181	35371	c.35147G>A	c.(35146-35148)CGC>CAC	p.R11716H	TTN_uc010zfh.1_Missense_Mutation_p.R5411H|TTN_uc010zfi.1_Missense_Mutation_p.R5344H|TTN_uc010zfj.1_Missense_Mutation_p.R5219H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12643							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAAGATGCGGCGCAGGCC	0.438													T	179498235	C	T	179498235	3	4	191	1	0	0	0	0	1	0	0	0	16732	768	27	1	65366	1	TTN	2	179498235	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	13477	179498235	63701138	315	103335											
TTN	7273	broad.mit.edu	37	chr2	179640257	179640257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttgacaccatttttgtAccattcacattcggggtctg	7	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179640257A>G	uc010zfg.1	-	28	6558	c.6334T>C	c.(6334-6336)TAC>CAC	p.Y2112H	TTN_uc010zfh.1_Missense_Mutation_p.Y2066H|TTN_uc010zfi.1_Missense_Mutation_p.Y2066H|TTN_uc010zfj.1_Missense_Mutation_p.Y2066H|TTN_uc002unb.2_Missense_Mutation_p.Y2112H|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2112							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTTTGTACCATTCACAT	0.473													G	179640257	A	G	179640257	3	3	191	1	0	0	0	0	1	0	0	0	16732	391	14	3	104994	3	TTN	2	179640257	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	142022	179640257	63559116	316	103336											
ZNF385B	151126	broad.mit.edu	37	chr2	180309623	180309623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctagaatactcgggctccGctggagtttgttgtaagggc	14	8	0	1	rs149254466	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:180309623G>A	uc002unn.3	-	9	1781	c.1177C>T	c.(1177-1179)CGG>TGG	p.R393W	ZNF385B_uc002unj.2_Missense_Mutation_p.R291W|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.R290W|ZNF385B_uc002unm.2_Missense_Mutation_p.R317W	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	393						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTCGGGCTCCGCTGGAGTTTG	0.498													A	180309623	G	A	180309623	3	1	191	1	0	0	0	0	1	0	0	0	17874	1086	38	1	246	1	ZNF385B	2	180309623	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	669366	180309623	62889750	317	103337											
NUP35	129401	broad.mit.edu	37	chr2	184023042	184023042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaattggatgcatattcGttatcaatctaaactgcagg	9	6	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:184023042G>A	uc002upf.2	+	7	744	c.641G>A	c.(640-642)CGT>CAT	p.R214H	NUP35_uc010zfs.1_Missense_Mutation_p.R196H|NUP35_uc010zft.1_Missense_Mutation_p.R96H|NUP35_uc002upg.2_RNA	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	214	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0						ATGCATATTCGTTATCAATCT	0.323													A	184023042	G	A	184023042	3	1	191	1	0	0	0	0	1	0	0	0	10763	1145	40	1	667	1	NUP35	2	184023042	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3713419	184023042	59176331	318	103338											
ITGAV	3685	broad.mit.edu	37	chr2	187541575	187541575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggggcattcagccagcGcccatgcctgtgcctgtgtg	13	14	1	0	rs140775791	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:187541575G>A	uc002upq.2	+	29	3240	c.2964G>A	c.(2962-2964)GCG>GCA	p.A988A	ITGAV_uc010frs.2_Silent_p.A952A|ITGAV_uc010zfv.1_Silent_p.A942A	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	988	Extracellular (Potential).				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			ovary(2)|kidney(1)|skin(1)	4			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)		TTCAGCCAGCGCCCATGCCTG	0.423													A	187541575	G	A	187541575	2	1	191	1	0	0	0	0	0	0	0	1	7888	1074	38	1		1	ITGAV	2	187541575	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3518533	187541575	55657798	319	103339											
TFPI	7035	broad.mit.edu	37	chr2	188348879	188348879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaaccttggttgattgCggagtcagggagttattcac	14	7	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:188348879C>T	uc002upx.2	-	6	633	c.600G>A	c.(598-600)CCG>CCA	p.P200P	TFPI_uc002upy.2_Silent_p.P200P|TFPI_uc002upz.2_Silent_p.P196P|TFPI_uc002uqa.2_Silent_p.P200P|TFPI_uc002uqb.2_Silent_p.P200P	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	200					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TGGTTGATTGCGGAGTCAGGG	0.378													T	188348879	C	T	188348879	2	4	191	1	0	0	0	0	0	0	0	1	15805	755	27	1		1	TFPI	2	188348879	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	807304	188348879	54850494	320	103340											
COL5A2	1290	broad.mit.edu	37	chr2	189907474	189907474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatggtccagggattccaGcacttccttgttcaccattt	7	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:189907474G>T	uc002uqk.2	-	49	3772	c.3497C>A	c.(3496-3498)GCT>GAT	p.A1166D	COL5A2_uc010frx.2_Missense_Mutation_p.A742D	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1166					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGGATTCCAGCACTTCCTTG	0.378													T	189907474	G	T	189907474	3	4	191	1	0	0	0	0	1	0	0	0	3697	971	34	5	1026	5	COL5A2	2	189907474	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1558595	189907474	53291899	321	103341											
OSGEPL1	64172	broad.mit.edu	37	chr2	190617701	190617701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgcgacaccaccagatGcaacctgaaggaattgagaa	9	10	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:190617701G>A	uc002uqz.1	-	6	1502	c.968C>T	c.(967-969)GCA>GTA	p.A323V	OSGEPL1_uc002ura.1_RNA	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	323					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACCACCAGATGCAACCTGAAG	0.378													A	190617701	G	A	190617701	3	1	191	1	0	0	0	0	1	0	0	0	11288	1319	46	2	288	2	OSGEPL1	2	190617701	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	710227	190617701	52581672	322	103342											
STAT4	6775	broad.mit.edu	37	chr2	191898219	191898219	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattagtgagtatataccacTttcagaatggtccacccagg	8	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:191898219T>A	uc002usm.1	-	20	2103	c.1849A>T	c.(1849-1851)AGT>TGT	p.S617C	STAT4_uc002usn.1_Missense_Mutation_p.S617C|STAT4_uc010zgk.1_Missense_Mutation_p.S462C|STAT4_uc002uso.2_Missense_Mutation_p.S617C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	617	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TATATACCACTTTCAGAATGG	0.373													A	191898219	T	A	191898219	3	1	191	1	0	0	0	0	1	0	0	0	15266	1609	56	5	417	5	STAT4	2	191898219	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1280518	191898219	51301154	323	103343											
MYO1B	4430	broad.mit.edu	37	chr2	192228478	192228478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcagattgtgggctttAtggatcatgaagctgagtct	12	7	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:192228478A>G	uc010fsg.2	+	10	1045	c.790A>G	c.(790-792)ATG>GTG	p.M264V	MYO1B_uc002usq.2_Missense_Mutation_p.M264V|MYO1B_uc002usr.2_Missense_Mutation_p.M264V|MYO1B_uc002uss.1_Missense_Mutation_p.M264V	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	264	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTGGGCTTTATGGATCATGA	0.388													G	192228478	A	G	192228478	3	3	191	1	0	0	0	0	1	0	0	0	10069	449	16	3	824	3	MYO1B	2	192228478	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	330259	192228478	50970895	324	103344											
TMEFF2	23671	broad.mit.edu	37	chr2	193049142	193049142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtttgcatgcagcctgtCgcaggtaacactcattctgg	11	11	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:193049142C>T	uc002utc.2	-	3	744	c.350G>A	c.(349-351)CGA>CAA	p.R117Q	TMEFF2_uc002utd.1_Missense_Mutation_p.R117Q	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	117	Kazal-like 1.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TGCAGCCTGTCGCAGGTAACA	0.473													T	193049142	C	T	193049142	3	4	191	1	0	0	0	0	1	0	0	0	16011	884	31	1	806	1	TMEFF2	2	193049142	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	820664	193049142	50150231	325	103345											
DNAH7	56171	broad.mit.edu	37	chr2	196605585	196605585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccagaaataatccgtgaaTgaaaacacctaaatataaaa	4	7	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:196605585T>C	uc002utj.3	-	64	11874	c.11773A>G	c.(11773-11775)ATT>GTT	p.I3925V	DNAH7_uc002uti.3_Missense_Mutation_p.I408V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3925					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AATCCGTGAATGAAAACACCT	0.328													C	196605585	T	C	196605585	3	2	191	1	0	0	0	0	1	0	0	0	4606	1464	51	3	309	3	DNAH7	2	196605585	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3556443	196605585	46593788	326	103346											
SATB2	23314	broad.mit.edu	37	chr2	200173523	200173523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccacgtgttgcatgCgttcgctgtggtgatgcctt	14	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:200173523C>T	uc002uuy.1	-	10	2517	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	SATB2_uc010fsq.1_Missense_Mutation_p.R449H|SATB2_uc002uuz.1_Missense_Mutation_p.R567H|SATB2_uc002uva.1_Missense_Mutation_p.R567H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	567						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTGTTGCATGCGTTCGCTGTG	0.597													T	200173523	C	T	200173523	3	4	191	1	0	0	0	0	1	0	0	0	13854	768	27	1	509	1	SATB2	2	200173523	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3567938	200173523	43025850	327	103347											
C2orf60	129450	broad.mit.edu	37	chr2	200813094	200813094	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaactgcagcaacatgAatctttacttctttcttccc	5	12	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:200813094A>G	uc002uvi.3	-	2	446	c.180T>C	c.(178-180)ATT>ATC	p.I60I	C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Intron|C2orf60_uc002uvl.2_Silent_p.I60I	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	60					wybutosine biosynthetic process		iron ion 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|protein homodimerization activity|tRNA binding				0						CAGCAACATGAATCTTTACTT	0.383													G	200813094	A	G	200813094	2	3	191	1	0	0	0	0	0	0	0	1	2179	242	9	3		3	C2orf60	2	200813094	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	639571	200813094	42386279	328	103348											
CASP10	843	broad.mit.edu	37	chr2	202070608	202070608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacctctctttctaggtaAcagagccacaaatggtgcac	8	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:202070608A>C	uc002uxl.1	+	7	1143	c.725A>C	c.(724-726)AAC>ACC	p.N242T	CASP10_uc010zhn.1_Intron|CASP10_uc002uxj.1_Missense_Mutation_p.N242T|CASP10_uc002uxk.1_Intron|CASP10_uc010fta.1_Intron|CASP10_uc002uxm.1_Intron|CASP10_uc010ftb.1_Intron	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	242					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						TTTCTAGGTAACAGAGCCACA	0.443													C	202070608	A	C	202070608	3	2	191	1	0	0	0	0	1	0	0	0	2669	43	2	5	747	5	CASP10	2	202070608	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1257514	202070608	41128765	329	103349											
CASP8	841	broad.mit.edu	37	chr2	202141612	202141612	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tactgtctgatcatcaacaaTcacaattttgcaaaagcacg	5	10	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:202141612T>A	uc002uxr.1	+	8	932	c.723T>A	c.(721-723)AAT>AAA	p.N241K	CASP8_uc002uxo.1_Missense_Mutation_p.S220T|CASP8_uc002uxp.1_Missense_Mutation_p.N258K|CASP8_uc002uxq.1_Missense_Mutation_p.N226K|CASP8_uc002uxt.1_Missense_Mutation_p.N300K|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.N226K|CASP8_uc002uxw.1_Missense_Mutation_p.N226K|CASP8_uc002uxy.1_Missense_Mutation_p.N241K|CASP8_uc002uxx.1_Missense_Mutation_p.N226K|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Missense_Mutation_p.S102T	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	241					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|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TCATCAACAATCACAATTTTG	0.433										HNSCC(4;0.00038)			A	202141612	T	A	202141612	3	1	191	1	0	0	0	0	1	0	0	0	2677	1435	50	5	1026	5	CASP8	2	202141612	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	71004	202141612	41057761	330	103350											
BMPR2	659	broad.mit.edu	37	chr2	203384859	203384859	+	Frame_Shift_Del	DEL	C	C	-													cacaagtgactgggtaagctCttgccgtcttgctcattctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:203384858_203384858TC>T	uc002uzf.4	+	6	2049	c.901_901TC>T	c.(901-903)tctfs	p.S301fs	BMPR2_uc010ftr.3_Frame_Shift_Del_p.S301fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	301	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|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						CTGGGTAAGCTCTTGCCGTCT	0.373													-	203384859	C	-	203384859	7	5	191	1	0	1	0	1	0	0	0	0	1471	913	32	0	928	0	BMPR2	2	203384859	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1243247	203384859	39814514	331	103351											
NRP2	8828	broad.mit.edu	37	chr2	206587232	206587232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaaaaaacttcacaaGccccaacgggaccatcgaat	6	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:206587232G>A	uc002vaw.2	+	4	1255	c.464G>A	c.(463-465)AGC>AAC	p.S155N	NRP2_uc002vat.2_Missense_Mutation_p.S155N|NRP2_uc002vau.2_Missense_Mutation_p.S155N|NRP2_uc002vav.2_Missense_Mutation_p.S155N|NRP2_uc002vax.2_Missense_Mutation_p.S155N|NRP2_uc002vay.2_Missense_Mutation_p.S155N|NRP2_uc010fud.2_Missense_Mutation_p.S155N	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	155	Extracellular (Potential).|CUB 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			skin(2)|ovary(1)|central_nervous_system(1)	4						AACTTCACAAGCCCCAACGGG	0.463													A	206587232	G	A	206587232	3	1	191	1	0	0	0	0	1	0	0	0	10661	971	34	2	478	2	NRP2	2	206587232	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3202373	206587232	36612141	332	103352											
INO80D	54891	broad.mit.edu	37	chr2	206874404	206874404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggtcgacgaggtccacGccttctcttcttcttgtgtt	11	11	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:206874404G>A	uc002vaz.3	-	9	2062	c.1657C>T	c.(1657-1659)CGT>TGT	p.R553C		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	553					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						CGAGGTCCACGCCTTCTCTTC	0.542													A	206874404	G	A	206874404	3	1	191	1	0	0	0	0	1	0	0	0	7749	1087	38	1	1438	1	INO80D	2	206874404	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	287172	206874404	36324969	333	103353											
INO80D	54891	broad.mit.edu	37	chr2	206884472	206884472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatacgttggaaacaatGtctggtgaatggaagggctt	14	4	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:206884472G>A	uc002vaz.3	-	7	1801	c.1396C>T	c.(1396-1398)CAT>TAT	p.H466Y		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	466					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						TGGAAACAATGTCTGGTGAAT	0.433													A	206884472	G	A	206884472	3	1	191	1	0	0	0	0	1	0	0	0	7749	1377	48	4	1707	4	INO80D	2	206884472	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	10068	206884472	36314901	334	103354											
NDUFS1	4719	broad.mit.edu	37	chr2	207018409	207018409	+	Splice_Site	DEL	A	A	-													ggtatccttaacatattgctAaaaataaaacaaagaattat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:207018408_207018408TA>T	uc010ziq.2	-	2	100	c.39_splice	c.e2-1	p.I13_splice	NDUFS1_uc002vbe.3_Splice_Site|NDUFS1_uc010zir.2_Splice_Site|NDUFS1_uc010zis.2_Splice_Site|NDUFS1_uc010zit.2_Splice_Site|NDUFS1_uc010ziu.2_Intron	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	0					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AACATATTGCTAAAAATAAAA	0.299													-	207018409	A	-	207018409	8	5	191	1	0	1	0	1	0	0	1	0	10291	377	13	0		0	NDUFS1	2	207018409	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	133937	207018409	36180964	335	103355											
FASTKD2	22868	broad.mit.edu	37	chr2	207636937	207636937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctttaagaataatgAtcaacatattgcagtcctgc	8	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:207636937A>T	uc002vbu.2	+	6	1557	c.1147A>T	c.(1147-1149)ATC>TTC	p.I383F	FASTKD2_uc002vbv.2_Missense_Mutation_p.I383F|FASTKD2_uc002vbx.2_Missense_Mutation_p.I383F|FASTKD2_uc002vbw.1_Missense_Mutation_p.I383F	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	383					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGAATAATGATCAACATATT	0.348													T	207636937	A	T	207636937	3	4	191	1	0	0	0	0	1	0	0	0	5686	333	12	5	1165	5	FASTKD2	2	207636937	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	618528	207636937	35562436	336	103356											
CRYGD	1421	broad.mit.edu	37	chr2	208988911	208988911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcggcatagtcgccgcgGcgcaggaagtactggaggcc	17	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:208988911G>A	uc002vcn.3	-	2	293	c.177C>T	c.(175-177)CGC>CGT	p.R59R		NM_006891	NP_008822	P07320	CRGD_HUMAN	crystallin, gamma D	59	Beta/gamma crystallin 'Greek key' 2.		R -> H (in CACA; lowered solubility; crystallizes easily).		cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGTCGCCGCGGCGCAGGAAGT	0.652													A	208988911	G	A	208988911	2	1	191	1	0	0	0	0	0	0	0	1	3917	1190	42	2		2	CRYGD	2	208988911	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1351974	208988911	34210462	337	103357											
FN1	2335	broad.mit.edu	37	chr2	216274341	216274341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatattccacccggaatccCgacacggtgtcggaagctga	10	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:216274341C>T	uc002vfa.2	-	15	2510	c.2244G>A	c.(2242-2244)TCG>TCA	p.S748S	FN1_uc002vfb.2_Silent_p.S748S|FN1_uc002vfc.2_Silent_p.S748S|FN1_uc002vfd.2_Silent_p.S748S|FN1_uc002vfe.2_Silent_p.S748S|FN1_uc002vff.2_Silent_p.S748S|FN1_uc002vfg.2_Silent_p.S748S|FN1_uc002vfh.2_Silent_p.S748S|FN1_uc002vfi.2_Silent_p.S748S|FN1_uc002vfj.2_Silent_p.S748S	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	748	Fibronectin type-III 2.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CCCGGAATCCCGACACGGTGT	0.547													T	216274341	C	T	216274341	2	4	191	1	0	0	0	0	0	0	0	1	5962	639	23	1		1	FN1	2	216274341	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7285430	216274341	26925032	338	103358											
MREG	55686	broad.mit.edu	37	chr2	216809644	216809644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctgccaggcatggaAccccaggcttcttggggtaa	13	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:216809644A>G	uc002vfo.2	-	5	883	c.587T>C	c.(586-588)GTT>GCT	p.V196A	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	196						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		CAGGCATGGAACCCCAGGCTT	0.498													G	216809644	A	G	216809644	3	3	191	1	0	0	0	0	1	0	0	0	9760	43	2	3	61	3	MREG	2	216809644	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	535303	216809644	26389729	339	103359											
RPL37A	6168	broad.mit.edu	37	chr2	217366124	217366124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggagttgaaagaccaGtagacgctcctctactcttt	9	10	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:217366124G>A	uc002vgf.2	+	4	354	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q	RPL37A_uc002vgg.2_3'UTR	NM_000998	NP_000989	P61513	RL37A_HUMAN	ribosomal protein L37a	92					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			ovary(1)	1		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAAGACCAGTAGACGCTCC	0.393													A	217366124	G	A	217366124	2	1	191	1	0	0	0	0	0	0	0	1	13590	1020	36	4		4	RPL37A	2	217366124	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	556480	217366124	25833249	340	103360											
TNS1	7145	broad.mit.edu	37	chr2	218686571	218686571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggccataggcctgggtgGctggagcactaaagctcttg	14	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:218686571G>T	uc002vgt.2	-	23	3550	c.3152C>A	c.(3151-3153)GCC>GAC	p.A1051D	TNS1_uc002vgr.2_Missense_Mutation_p.A1038D|TNS1_uc002vgs.2_Missense_Mutation_p.A1030D|TNS1_uc010zjv.1_Missense_Mutation_p.A1030D	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1051						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		GGCCTGGGTGGCTGGAGCACT	0.647													T	218686571	G	T	218686571	3	4	191	1	0	0	0	0	1	0	0	0	16340	1203	42	5	2099	5	TNS1	2	218686571	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1320447	218686571	24512802	341	103361											
AAMP	14	broad.mit.edu	37	chr2	219131233	219131233	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtcttgcagtcaccattCgggactttccacatccaggt	9	12	2	0	rs140610263		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:219131233C>T	uc002vhk.2	-	5	696	c.612G>A	c.(610-612)CCG>CCA	p.P204P	AAMP_uc002vhj.2_Silent_p.P185P|AAMP_uc010fvo.2_Silent_p.P204P|AAMP_uc002vhl.2_Silent_p.P205P	NM_001087	NP_001078	Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	204	WD 3.				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCACCATTCGGGACTTTCC	0.622													T	219131233	C	T	219131233	2	4	191	1	0	0	0	0	0	0	0	1	17	871	31	1		1	AAMP	2	219131233	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	444662	219131233	24068140	342	103362											
FEV	54738	broad.mit.edu	37	chr2	219846723	219846723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgcgccaggccctggAagtcgaagcggtaggcgtag	17	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:219846723A>G	uc002vji.1	-	3	965	c.383T>C	c.(382-384)TTC>TCC	p.F128S		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	128					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCCCTGGAAGTCGAAGCG	0.522			T	EWSR1| FUS	Ewing sarcoma								G	219846723	A	G	219846723	3	3	191	1	0	0	0	0	1	0	0	0	5822	246	9	3	337	3	FEV	2	219846723	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	715490	219846723	23352650	343	103363											
ATG9A	79065	broad.mit.edu	37	chr2	220085516	220085516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgagccctcttcgggcaCgggctcagggtgccttgatg	14	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220085516C>T	uc002vke.1	-	15	2653	c.2467G>A	c.(2467-2469)GTG>ATG	p.V823M	ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.V823M	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	823	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTTCGGGCACGGGCTCAGGG	0.607													T	220085516	C	T	220085516	3	4	191	1	0	0	0	0	1	0	0	0	1102	536	19	1	60	1	ATG9A	2	220085516	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	238793	220085516	23113857	344	103364											
SPEG	10290	broad.mit.edu	37	chr2	220342646	220342646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgctttctcctacttgCggcgcatagtggagcgtagc	15	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220342646C>T	uc010fwg.2	+	22	4846	c.4846C>T	c.(4846-4848)CGG>TGG	p.R1616W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1616	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		CTCCTACTTGCGGCGCATAGT	0.647													T	220342646	C	T	220342646	3	4	191	1	0	0	0	0	1	0	0	0	15035	759	27	1	4944	1	SPEG	2	220342646	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	257130	220342646	22856727	345	103365											
ACCN4	55515	broad.mit.edu	37	chr2	220402406	220402406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcccaagacccccctgcGgacctccactgggggcatct	11	18	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220402406G>A	uc002vma.2	+	8	1792	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q	ACCN4_uc002vlz.2_Missense_Mutation_p.R612Q|ACCN4_uc002vmb.2_3'UTR	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	593	Cytoplasmic (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		ACCCCCCTGCGGACCTCCACT	0.607													A	220402406	G	A	220402406	3	1	191	1	0	0	0	0	1	0	0	0	131	1116	39	1	1869	1	ACCN4	2	220402406	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	59760	220402406	22796967	346	103366											
OBSL1	23363	broad.mit.edu	37	chr2	220418400	220418400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcccccgcacgatggtcaCtgggacctctgggggtggga	17	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220418400C>A	uc010fwk.2	-	16	4942	c.4885G>T	c.(4885-4887)GTG>TTG	p.V1629L		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1629	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		ACGATGGTCACTGGGACCTCT	0.612											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	220418400	C	A	220418400	3	1	191	1	0	0	0	0	1	0	0	0	10813	565	20	5	829	5	OBSL1	2	220418400	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	15994	220418400	22780973	347	103367											
WDFY1	57590	broad.mit.edu	37	chr2	224746715	224746715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggacttggaactcgaaGcccatgactgggtaacttga	11	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:224746715G>A	uc002vnq.2	-	10	1059	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	336	FYVE-type.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		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)		GGAACTCGAAGCCCATGACTG	0.493													A	224746715	G	A	224746715	2	1	191	1	0	0	0	0	0	0	0	1	17265	958	34	2		2	WDFY1	2	224746715	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4328315	224746715	18452658	348	103368											
CUL3	8452	broad.mit.edu	37	chr2	225368388	225368389	+	Frame_Shift_Ins	INS	-	-	T													ctttaacttagatatcatgtINSttttttcagagtcatcagaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:225368387_225368388G>GT	uc010fwy.1	-	8	1429_1430	c.1376_1377C>AC	c.(1375-1377)aacfs	p.N459fs	CUL3_uc010zls.1_Frame_Shift_Ins_p.N387fs|CUL3_uc002vny.2_Frame_Shift_Ins_p.N453fs	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	453					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|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)		TAGATATCATGTTTTTTTCAGA	0.317													T	225368389	-	T	225368388	7	5	191	1	0	1	1	0	0	0	0	0	4056	1725	60	0	980	0	CUL3	2	225368388	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	621673	225368388	17830985	349	103369											
DOCK10	55619	broad.mit.edu	37	chr2	225666646	225666646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttactggtcatggtattGtctaacatctgtaagagttt	8	6	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:225666646G>A	uc010fwz.1	-	40	4619	c.4380C>T	c.(4378-4380)GAC>GAT	p.D1460D	DOCK10_uc002vob.2_Silent_p.D1454D|DOCK10_uc002voa.2_Silent_p.D116D|DOCK10_uc002voc.2_Silent_p.D314D	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1460							GTP binding			ovary(2)	2		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)		TCATGGTATTGTCTAACATCT	0.378													A	225666646	G	A	225666646	2	1	191	1	0	0	0	0	0	0	0	1	4685	1368	48	4		4	DOCK10	2	225666646	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	298258	225666646	17532727	350	103370											
IRS1	3667	broad.mit.edu	37	chr2	227663330	227663330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgtagtactcgaggcgcGccgggcccccagcctcgctg	13	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:227663330G>A	uc002voh.3	-	1	177	c.125C>T	c.(124-126)GCG>GTG	p.A42V		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	42	PH.|Mediates interaction with PHIP (By similarity).				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		CTCGAGGCGCGCCGGGCCCCC	0.632													A	227663330	G	A	227663330	3	1	191	1	0	0	0	0	1	0	0	0	7840	1087	38	1	3607	1	IRS1	2	227663330	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1996684	227663330	15536043	351	103371											
HTR2B	3357	broad.mit.edu	37	chr2	231973769	231973769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccaattgtggatgttcttCgcataagtgtttcatcacct	7	10	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:231973769C>T	uc002vro.2	-	4	1413	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.R236Q	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	303	Cytoplasmic (By similarity).				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				0		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)	GGATGTTCTTCGCATAAGTGT	0.468													T	231973769	C	T	231973769	3	4	191	1	0	0	0	0	1	0	0	0	7442	884	31	1	541	1	HTR2B	2	231973769	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4310439	231973769	11225604	352	103372											
PTMA	5757	broad.mit.edu	37	chr2	232576065	232576067	+	In_Frame_Del	DEL	AGG	AGG	-													ttcccttttgaaggacttaaAggagaagaaggaagttgtgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:232576064_232576066AAGG>A	uc002vsc.4	+	1	234_236	c.52_54AAGG>A	c.(52-54)aag>A	p.K18del	PTMA_uc002vsb.4_In_Frame_Del_p.K18del|PTMA_uc010zmf.2_Non-coding_Transcript|PTMA_uc021vyc.1_5'Flank	NM_001099285	NP_001092755	P06454	PTMA_HUMAN	Homo sapiens prothymosin, alpha (PTMA), transcript variant 1, mRNA.	18					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GAAGGACTTAAAGGAGAAGAAGG	0.507											OREG0015276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	232576067	AGG	-	232576065	7	5	191	1	0	1	0	1	0	0	0	0	12766	72	3	0	59	0	PTMA	2	232576065	In_Frame_Del	DEL	AGG	TCGA-CG-5723-01A-11D-1600-08	602296	232576065	10623308	353	103373											
NGEF	25791	broad.mit.edu	37	chr2	233834974	233834974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctgttctgcaaggaggCattctgctccaggggatatt	12	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:233834974C>T	uc002vts.2	-	3	581	c.333G>A	c.(331-333)ATG>ATA	p.M111I		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	111	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				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			ovary(3)|central_nervous_system(3)|skin(1)	7		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)		TGCAAGGAGGCATTCTGCTCC	0.468													T	233834974	C	T	233834974	3	4	191	1	0	0	0	0	1	0	0	0	10394	710	25	2	1962	2	NGEF	2	233834974	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1258909	233834974	9364399	354	103374											
UGT1A6	54578	broad.mit.edu	37	chr2	234602124	234602124	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccttaccctgtggggtgatCctggctgagtatttgggcct	14	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:234602124C>T	uc002vuv.3	+	1	613	c.474C>T	c.(472-474)ATC>ATT	p.I158I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Silent_p.I158I	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	158					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		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)		GTGGGGTGATCCTGGCTGAGT	0.532													T	234602124	C	T	234602124	2	4	191	1	0	0	0	0	0	0	0	1	16946	845	30	4		4	UGT1A6	2	234602124	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	767150	234602124	8597249	355	103375											
TRPM8	79054	broad.mit.edu	37	chr2	234858731	234858731	+	Frame_Shift_Del	DEL	T	T	-													tcaaggagaagctggtgcgcTttttaccccgcacggtgtcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:234858730_234858730CT>C	uc002vvh.3	+	8	1120	c.1080_1080CT>C	c.(1078-1080)cgcfs	p.R360fs	TRPM8_uc010fyj.3_Frame_Shift_Del_p.R48fs	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	360						integral to membrane				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)	AGCTGGTGCGCTTTTTACCCC	0.572													-	234858731	T	-	234858731	7	5	191	1	0	1	0	1	0	0	0	0	16589	1609	56	0	1111	0	TRPM8	2	234858731	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	256607	234858731	8340642	356	103376											
RBM44	375316	broad.mit.edu	37	chr2	238728937	238728937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcactatcagatgtgtcGtcgccattgttgtgatattt	9	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:238728937G>A	uc002vxi.3	+	5	1991	c.1859G>A	c.(1858-1860)CGT>CAT	p.R620H		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	619							nucleotide binding|RNA binding			ovary(4)	4		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)		CAGATGTGTCGTCGCCATTGT	0.348													A	238728937	G	A	238728937	3	1	191	1	0	0	0	0	1	0	0	0	13138	1145	40	1	1873	1	RBM44	2	238728937	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3870206	238728937	4470436	357	103377											
ESPNL	339768	broad.mit.edu	37	chr2	239038938	239038938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtcaggagtatgagaGtgagctgggccggttggcgg	19	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:239038938G>A	uc002vxq.3	+	9	1693	c.1583G>A	c.(1582-1584)AGT>AAT	p.S528N	ESPNL_uc010fyw.2_Missense_Mutation_p.S224N	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	528	Potential.									pancreas(1)	1		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)		GAGTATGAGAGTGAGCTGGGC	0.662													A	239038938	G	A	239038938	3	1	191	1	0	0	0	0	1	0	0	0	5255	1029	36	4	1617	4	ESPNL	2	239038938	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	310001	239038938	4160435	358	103378											
HDLBP	3069	broad.mit.edu	37	chr2	242169295	242169295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtcccgcaccacaaagcCtctggaaggtgccttggcct	11	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:242169295C>A	uc002waz.2	-	27	3901	c.3673G>T	c.(3673-3675)GGC>TGC	p.G1225C	HDLBP_uc002wba.2_Missense_Mutation_p.G1225C|HDLBP_uc002wbb.2_Missense_Mutation_p.G1177C	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1225					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		ACCACAAAGCCTCTGGAAGGT	0.642													A	242169295	C	A	242169295	3	1	191	1	0	0	0	0	1	0	0	0	7025	681	24	5	141	5	HDLBP	2	242169295	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3130357	242169295	1030078	359	103379											
CNTN4	152330	broad.mit.edu	37	chr3	3067806	3067806	+	Frame_Shift_Del	DEL	C	C	-													atccaacaagggtaatggtaCccccttccagtatggatgtc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:3067805_3067805AC>A	uc003bpc.3	+	14	1845	c.1506_1506AC>A	c.(1504-1506)gtafs	p.V502fs	CNTN4_uc003bpb.1_Frame_Shift_Del_p.V174fs|CNTN4_uc021wsg.1_Frame_Shift_Del_p.V502fs|CNTN4_uc003bpd.1_Frame_Shift_Del_p.V502fs|CNTN4_uc003bpe.3_Frame_Shift_Del_p.V174fs|CNTN4_uc003bpf.3_Frame_Shift_Del_p.V174fs	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	502	Ig-like C2-type 6.				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)		GGGTAATGGTACCCCCTTCCA	0.418													-	3067806	C	-	3067806	7	5	191	1	0	1	0	1	0	0	0	0	3643	507	18	0	1553	0	CNTN4	3	3067806	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08		3067806	194954624	360	103380											
ITPR1	3708	broad.mit.edu	37	chr3	4810193	4810193	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgccttatgcttgctttctAgctaaagagcccacaacaca	6	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:4810193A>T	uc003bqa.2	+	43	5930	c.5582_splice	c.e43-2	p.A1861_splice	ITPR1_uc010hca.1_Splice_Site_p.A1846_splice|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Splice_Site_p.A831_splice	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1						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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTTGCTTTCTAGCTAAAGAGC	0.522													T	4810193	A	T	4810193	5	4	191	1	0	0	0	0	0	0	1	0	7920	434	15	5	5898	5	ITPR1	3	4810193	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1742387	4810193	193212237	361	103381											
BRPF1	7862	broad.mit.edu	37	chr3	9780731	9780731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggaagtagagtatgaCatggacgaggaggactacat	15	5	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:9780731C>T	uc003bse.2	+	3	1047	c.648C>T	c.(646-648)GAC>GAT	p.D216D	BRPF1_uc003bsf.2_Silent_p.D216D|BRPF1_uc003bsg.2_Silent_p.D216D|BRPF1_uc011ati.1_Silent_p.D216D	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	216	Interaction with MYST3 and MYST4.				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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					TAGAGTATGACATGGACGAGG	0.502													T	9780731	C	T	9780731	2	4	191	1	0	0	0	0	0	0	0	1	1520	477	17	4		4	BRPF1	3	9780731	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4970538	9780731	188241699	362	103382											
SEC13	6396	broad.mit.edu	37	chr3	10357003	10357004	+	Splice_Site	INS	-	-	C													cctgggctcgccagcacttaINSccccctgaggtcggcgataa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10357003_10357004insC	uc003bvn.2	-	3	283	c.164_splice	c.e3+1	p.G55_splice	SEC13_uc003bvl.2_5'Flank|SEC13_uc003bvm.2_Splice_Site_p.G41_splice|SEC13_uc003bvp.2_Splice_Site_p.G58_splice|SEC13_uc003bvo.2_Splice_Site_p.G101_splice|SEC13_uc003bvq.1_Splice_Site_p.G41_splice|SEC13_uc003bvr.1_Splice_Site_p.G41_splice|SEC13_uc011aul.1_Splice_Site_p.G55_splice	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1						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			ovary(1)	1						GCCAGCACTTACCCCCTGAGGT	0.579													C	10357004	-	C	10357003	8	5	191	1	0	1	1	0	0	0	1	0	13980	405	14	0	830	0	SEC13	3	10357003	Splice_Site	INS	-	TCGA-CG-5723-01A-11D-1600-08	576272	10357003	187665427	363	103383	497	2									
SEC13	6396	broad.mit.edu	37	chr3	10357004	10357005	+	Splice_Site	INS	-	-	C													ctgggctcgccagcacttacINScccctgaggtcggcgataag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10357003_10357004A>AC	uc003bvn.3	-	3	286	c.164_splice	c.e3+1	p.G55_splice	SEC13_uc003bvl.3_5'Flank|SEC13_uc003bvm.3_Splice_Site_p.G41_splice|SEC13_uc003bvp.3_Splice_Site_p.G58_splice|SEC13_uc003bvo.3_Splice_Site_p.G101_splice|SEC13_uc003bvr.1_Splice_Site_p.G41_splice|SEC13_uc011aul.2_Splice_Site_p.G55_splice	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	55					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GCCAGCACTTACCCCCTGAGGT	0.579													C	10357005	-	C	10357004	8	5	191	1	0	1	1	0	0	0	1	0	13980	521	18	0	831	0	SEC13	3	10357004	Splice_Site	INS	-	TCGA-CG-5723-01A-11D-1600-08	1	10357004	187665426	364	103384	497	2									
ATP2B2	491	broad.mit.edu	37	chr3	10387766	10387766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcccgtcgttggtcccGtcccccgtcacggccaccac	11	20	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10387766G>A	uc003bvt.2	-	17	2899	c.2460C>T	c.(2458-2460)GAC>GAT	p.D820D	ATP2B2_uc003bvv.2_Silent_p.D775D|ATP2B2_uc003bvw.2_Silent_p.D775D|ATP2B2_uc010hdo.2_Silent_p.D525D	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	820	Cytoplasmic (Potential).	Magnesium (By similarity).			ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CGTTGGTCCCGTCCCCCGTCA	0.677													A	10387766	G	A	10387766	2	1	191	1	0	0	0	0	0	0	0	1	1140	1136	40	1		1	ATP2B2	3	10387766	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	30762	10387766	187634664	365	103385											
HRH1	3269	broad.mit.edu	37	chr3	11301400	11301400	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acactgccagcaccgggagcTcatcaataggtccctccctt	8	16	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:11301400T>G	uc010hdr.2	+	2	1019	c.677T>G	c.(676-678)CTC>CGC	p.L226R	HRH1_uc010hds.2_Missense_Mutation_p.L226R|HRH1_uc010hdt.2_Missense_Mutation_p.L226R|HRH1_uc003bwb.3_Missense_Mutation_p.L226R	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	226	Cytoplasmic (Potential).				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			large_intestine(1)|ovary(1)	2					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)	CACCGGGAGCTCATCAATAGG	0.537													G	11301400	T	G	11301400	3	3	191	1	0	0	0	0	1	0	0	0	7355	1551	54	5	679	5	HRH1	3	11301400	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	913634	11301400	186721030	366	103386											
ATG7	10533	broad.mit.edu	37	chr3	11382179	11382179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgggaccaaggatggTgaacctcagtgaatgtatgg	15	6	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:11382179T>C	uc003bwc.2	+	10	1067	c.950T>C	c.(949-951)GTG>GCG	p.V317A	ATG7_uc003bwd.2_Missense_Mutation_p.V317A|ATG7_uc011aum.1_Missense_Mutation_p.V278A	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	317					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						CCAAGGATGGTGAACCTCAGT	0.433													C	11382179	T	C	11382179	3	2	191	1	0	0	0	0	1	0	0	0	1101	1696	59	3	984	3	ATG7	3	11382179	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	80779	11382179	186640251	367	103387											
RAF1	5894	broad.mit.edu	37	chr3	12660191	12660191	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatccaaaaccattgctgatCgtcttccaagctccctgtat	5	13	1	1	rs140806518	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:12660191C>T	uc003bxf.3	-	2	445	c.30G>A	c.(28-30)ACG>ACA	p.T10T	RAF1_uc011auu.1_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	10					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)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	CATTGCTGATCGTCTTCCAAG	0.428			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				T	12660191	C	T	12660191	2	4	191	1	0	0	0	0	0	0	0	1	13002	871	31	1		1	RAF1	3	12660191	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1278012	12660191	185362239	368	103388											
IQSEC1	9922	broad.mit.edu	37	chr3	12977583	12977583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccgactcggtgctggaCggccggtcccctgcctgcga	15	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:12977583C>T	uc003bxt.2	-	3	984	c.975G>A	c.(973-975)CCG>CCA	p.P325P	IQSEC1_uc003bxu.3_Silent_p.P203P|IQSEC1_uc011auw.1_Silent_p.P311P	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	325					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CGGTGCTGGACGGCCGGTCCC	0.662													T	12977583	C	T	12977583	2	4	191	1	0	0	0	0	0	0	0	1	7817	523	19	1		1	IQSEC1	3	12977583	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	317392	12977583	185044847	369	103389											
GRIP2	80852	broad.mit.edu	37	chr3	14564529	14564529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcagggccaccgggccGcacgtaggtcaggacaagcg	17	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14564529G>A	uc011avi.1	-	7	835	c.835C>T	c.(835-837)CGG>TGG	p.R279W	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	182	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CCACCGGGCCGCACGTAGGTC	0.512													A	14564529	G	A	14564529	3	1	191	1	0	0	0	0	1	0	0	0	6788	1086	38	1	2665	1	GRIP2	3	14564529	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1586946	14564529	183457901	370	103390											
GRIP2	80852	broad.mit.edu	37	chr3	14564548	14564548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacgtaggtcaggacaagCgggcgggacttgtgcccatc	15	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14564548C>T	uc011avi.1	-	7	816	c.816G>A	c.(814-816)CCG>CCA	p.P272P	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	175	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						TCAGGACAAGCGGGCGGGACT	0.572													T	14564548	C	T	14564548	2	4	191	1	0	0	0	0	0	0	0	1	6788	755	27	1		1	GRIP2	3	14564548	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	19	14564548	183457882	371	103391											
C3orf20	84077	broad.mit.edu	37	chr3	14769959	14769959	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggtctgtttaccatTgaatatcccaccaaaaagga	6	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14769959T>C	uc003byy.2	+	12	2108	c.1704T>C	c.(1702-1704)ATT>ATC	p.I568I	C3orf20_uc003byz.2_Silent_p.I446I|C3orf20_uc003bza.2_Silent_p.I446I|C3orf20_uc003bzb.1_Silent_p.I69I	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	568						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TGTTTACCATTGAATATCCCA	0.483													C	14769959	T	C	14769959	2	2	191	1	0	0	0	0	0	0	0	1	2213	1800	63	3		3	C3orf20	3	14769959	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	205411	14769959	183252471	372	103392											
FGD5	152273	broad.mit.edu	37	chr3	14863039	14863039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacgaaaatgatggctacGtggacatgagcagcttcaac	10	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14863039G>A	uc003bzc.2	+	1	2571	c.2461G>A	c.(2461-2463)GTG>ATG	p.V821M	FGD5_uc011avk.1_Missense_Mutation_p.V821M	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	821					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			ovary(3)|kidney(1)|pancreas(1)	5						TGATGGCTACGTGGACATGAG	0.512													A	14863039	G	A	14863039	3	1	191	1	0	0	0	0	1	0	0	0	5836	1145	40	1	2463	1	FGD5	3	14863039	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	93080	14863039	183159391	373	103393											
ANKRD28	23243	broad.mit.edu	37	chr3	15756166	15756167	+	Splice_Site	INS	-	-	G													gttttcccatctttactctgINSgggggggaagaaaaaaatta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:15756165_15756166T>TG	uc003caj.1	-	9	1050	c.907_splice	c.e9-1	p.S303_splice	ANKRD28_uc003cai.1_Splice_Site_p.S149_splice|ANKRD28_uc011avz.1_Splice_Site_p.S149_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Splice_Site|ANKRD28_uc003cal.1_Splice_Site_p.S333_splice|ANKRD28_uc003cam.2_Splice_Site_p.S336_splice	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	303						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361													G	15756167	-	G	15756166	8	5	191	1	0	1	1	0	0	0	1	0	656	1363	47	0		0	ANKRD28	3	15756166	Splice_Site	INS	-	TCGA-CG-5723-01A-11D-1600-08	893127	15756166	182266264	374	103394											
RFTN1	23180	broad.mit.edu	37	chr3	16358486	16358486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcaccctccacacccAccccacacagcaggccacca	4	24	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:16358486A>G	uc003cay.2	-	10	1868	c.1586T>C	c.(1585-1587)GTG>GCG	p.V529A	RFTN1_uc010hes.2_Missense_Mutation_p.V493A|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	529						plasma membrane				ovary(3)|central_nervous_system(1)	4						CTCCACACCCACCCCACACAG	0.632													G	16358486	A	G	16358486	3	3	191	1	0	0	0	0	1	0	0	0	13258	159	6	3	154	3	RFTN1	3	16358486	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	602320	16358486	181663944	375	103395											
RFTN1	23180	broad.mit.edu	37	chr3	16419565	16419565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaggaatggtactgaggTataacaccaacgaatttcag	10	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:16419565T>C	uc003cay.2	-	5	768	c.486A>G	c.(484-486)ATA>ATG	p.I162M	RFTN1_uc010hes.2_Missense_Mutation_p.I126M	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	162						plasma membrane				ovary(3)|central_nervous_system(1)	4						GGTACTGAGGTATAACACCAA	0.517													C	16419565	T	C	16419565	3	2	191	1	0	0	0	0	1	0	0	0	13258	1628	57	3	1274	3	RFTN1	3	16419565	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	61079	16419565	181602865	376	103396											
TBC1D5	9779	broad.mit.edu	37	chr3	17255739	17255739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctgtgtgagcgagaaCgtgagatgttgctaaaaaag	13	4	0	3	rs138674365		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:17255739C>T	uc003cbf.2	-	18	3377	c.1712G>A	c.(1711-1713)CGT>CAT	p.R571H	TBC1D5_uc010heu.2_Missense_Mutation_p.R158H|TBC1D5_uc010hev.2_Missense_Mutation_p.R593H|TBC1D5_uc003cbe.2_Missense_Mutation_p.R571H|TBC1D5_uc010hew.1_Missense_Mutation_p.R545H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	571						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TGAGCGAGAACGTGAGATGTT	0.408													T	17255739	C	T	17255739	3	4	191	1	0	0	0	0	1	0	0	0	15620	536	19	1	695	1	TBC1D5	3	17255739	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	836174	17255739	180766691	377	103397											
RARB	5915	broad.mit.edu	37	chr3	25622169	25622169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcactggcttgaccatcGcagaccaaattaccctgctg	8	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:25622169G>A	uc011awl.1	+	5	829	c.763G>A	c.(763-765)GCA>ACA	p.A255T	RARB_uc003cdi.1_Missense_Mutation_p.A136T|RARB_uc003cdh.2_Missense_Mutation_p.A248T	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	255	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			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTTGACCATCGCAGACCAAAT	0.502													A	25622169	G	A	25622169	3	1	191	1	0	0	0	0	1	0	0	0	13053	1087	38	1	760	1	RARB	3	25622169	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	8366430	25622169	172400261	378	103398											
STT3B	201595	broad.mit.edu	37	chr3	31621466	31621466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaactttggaaccaaggaGcaggacttttagctgcttgt	12	7	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:31621466G>A	uc011axe.1	+	3	589	c.589G>A	c.(589-591)GCA>ACA	p.A197T	STT3B_uc010hft.1_Missense_Mutation_p.A197T|STT3B_uc003cer.1_Missense_Mutation_p.A197T	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	197	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						GAACCAAGGAGCAGGACTTTT	0.408													A	31621466	G	A	31621466	3	1	191	1	0	0	0	0	1	0	0	0	15333	971	34	2	599	2	STT3B	3	31621466	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5999297	31621466	166400964	379	103399											
TRIM71	131405	broad.mit.edu	37	chr3	32932581	32932581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccgaccgcagcaacaacCgcatccaggtgttcaagccc	9	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:32932581C>T	uc003cff.2	+	4	1948	c.1885C>T	c.(1885-1887)CGC>TGC	p.R629C		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	629	NHL 1.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CAGCAACAACCGCATCCAGGT	0.642													T	32932581	C	T	32932581	3	4	191	1	0	0	0	0	1	0	0	0	16541	652	23	1	1899	1	TRIM71	3	32932581	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1311115	32932581	165089849	380	103400											
MLH1	4292	broad.mit.edu	37	chr3	37053550	37053550	+	Frame_Shift_Del	DEL	G	G	-													cactacccaatgcctcaaccGtggacaatattcgctccatc					rs2308317	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:37053550delG	uc003cgl.2	+	8	697	c.637delG	c.(637-639)GTGfs	p.V213fs	MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Frame_Shift_Del_p.V213fs|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Frame_Shift_Del_p.V115fs|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_5'UTR|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'Flank	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	213					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						TGCCTCAACCGTGGACAATAT	0.383		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				-	37053550	G	-	37053550	7	5	191	1	0	1	0	1	0	0	0	0	9617	1145	40	0	667	0	MLH1	3	37053550	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	4120969	37053550	160968880	381	103401											
GOLGA4	2803	broad.mit.edu	37	chr3	37367422	37367422	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagttgaagaaagagttaTctgaaaacatcaatgctgtc	8	7	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:37367422T>A	uc003cgv.2	+	14	4349	c.4045T>A	c.(4045-4047)TCT>ACT	p.S1349T	GOLGA4_uc010hgr.1_Missense_Mutation_p.S910T|GOLGA4_uc003cgw.2_Missense_Mutation_p.S1371T|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.S1230T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1349	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GAAAGAGTTATCTGAAAACAT	0.353													A	37367422	T	A	37367422	3	1	191	1	0	0	0	0	1	0	0	0	6555	1435	50	5	4169	5	GOLGA4	3	37367422	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	313872	37367422	160655008	382	103402											
ITGA9	3680	broad.mit.edu	37	chr3	37523078	37523078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggccaaaggcaggaCgctgatcccttgctatgaag	11	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:37523078C>T	uc003chd.2	+	4	577	c.524C>T	c.(523-525)ACG>ATG	p.T175M	ITGA9_uc003chc.2_Missense_Mutation_p.T175M	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	175	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AAAGGCAGGACGCTGATCCCT	0.547													T	37523078	C	T	37523078	3	4	191	1	0	0	0	0	1	0	0	0	7883	536	19	1	538	1	ITGA9	3	37523078	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	155656	37523078	160499352	383	103403											
SCN10A	6336	broad.mit.edu	37	chr3	38763811	38763811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaccagctgtgctccaCgatacggtagcaagtcttgc	9	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:38763811C>T	uc003ciq.2	-	19	3445	c.3445G>A	c.(3445-3447)GTG>ATG	p.V1149M		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1149	III.|Helical; Name=S1 of repeat III; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	CTGTGCTCCACGATACGGTAG	0.562													T	38763811	C	T	38763811	3	4	191	1	0	0	0	0	1	0	0	0	13912	536	19	1	2461	1	SCN10A	3	38763811	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1240733	38763811	159258619	384	103404											
SCN11A	11280	broad.mit.edu	37	chr3	38892065	38892065	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagattttgatgagacattCtaacgtaaagatgaccacaa	7	6	1	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:38892065C>A	uc011ays.1	-	25	4433	c.4234G>T	c.(4234-4236)GAA>TAA	p.E1412*	SCN11A_uc003cis.1_Nonsense_Mutation_p.E77*	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1412	IV.|Helical; Name=S2 of repeat IV; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGACATTCTAACGTAAAG	0.393													A	38892065	C	A	38892065	4	1	191	1	0	0	0	0	0	1	0	0	13913	922	32	5	1149	5	SCN11A	3	38892065	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	128254	38892065	159130365	385	103405											
SCN11A	11280	broad.mit.edu	37	chr3	38949543	38949543	+	Frame_Shift_Del	DEL	T	T	-													tattaccaaagagctttctcTtttttggggtaaaatatgat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:38949543delT	uc011ays.1	-	10	1569	c.1370delA	c.(1369-1371)AAGfs	p.K457fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	457					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAGCTTTCTCTTTTTTGGGGT	0.388													-	38949543	T	-	38949543	7	5	191	1	0	1	0	1	0	0	0	0	13913	1609	56	0	4073	0	SCN11A	3	38949543	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	57478	38949543	159072887	386	103406											
CCDC13	152206	broad.mit.edu	37	chr3	42794103	42794103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgcgattggtcagctgCttcaccctggtttttgcacc	11	11	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:42794103C>T	uc003cly.3	-	4	561	c.477G>A	c.(475-477)AAG>AAA	p.K159K	CCDC13_uc003clz.2_Silent_p.K159K|CCDC13_uc011azq.1_Silent_p.K159K	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	159	Potential.									ovary(1)	1						TGGTCAGCTGCTTCACCCTGG	0.572													T	42794103	C	T	42794103	2	4	191	1	0	0	0	0	0	0	0	1	2765	796	28	2		2	CCDC13	3	42794103	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3844560	42794103	155228327	387	103407											
KIF15	56992	broad.mit.edu	37	chr3	44828026	44828026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtctttgttgttggtgCggtggagcaggtggtaacct	18	5	1	0	rs145837852		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:44828026C>T	uc003cnx.3	+	7	748	c.599C>T	c.(598-600)GCG>GTG	p.A200V	KIF15_uc010hiq.2_Missense_Mutation_p.A103V	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	200	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTTGTTGGTGCGGTGGAGCAG	0.483													T	44828026	C	T	44828026	3	4	191	1	0	0	0	0	1	0	0	0	8277	768	27	1	625	1	KIF15	3	44828026	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2033923	44828026	153194404	388	103408											
DHX30	22907	broad.mit.edu	37	chr3	47890175	47890175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggctcacatctccacCgacccccggttggccaaggc	10	19	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:47890175C>T	uc003cru.2	+	17	3063	c.2637C>T	c.(2635-2637)ACC>ACT	p.T879T	DHX30_uc003crt.2_Silent_p.T840T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	879						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACATCTCCACCGACCCCCGGT	0.642													T	47890175	C	T	47890175	2	4	191	1	0	0	0	0	0	0	0	1	4504	639	23	1		1	DHX30	3	47890175	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3062149	47890175	150132255	389	103409											
CCDC51	79714	broad.mit.edu	37	chr3	48476334	48476334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcgttgctgaatgctgtGccccagggctcttcccagtg	12	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48476334G>A	uc003csz.2	-	2	326	c.205C>T	c.(205-207)CAC>TAC	p.H69Y	CCDC51_uc003cta.2_5'UTR|CCDC51_uc003ctb.2_5'UTR|CCDC51_uc003ctc.2_Missense_Mutation_p.H69Y|CCDC51_uc003ctd.2_5'UTR	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	69						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGAATGCTGTGCCCCAGGGCT	0.612													A	48476334	G	A	48476334	3	1	191	1	0	0	0	0	1	0	0	0	2821	1319	46	2	1042	2	CCDC51	3	48476334	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	586159	48476334	149546096	390	103410											
ATRIP	84126	broad.mit.edu	37	chr3	48506346	48506346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtctgcgggacacggtGctgctgctgcacggcctatc	14	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48506346G>A	uc003ctf.1	+	12	2204	c.2172G>A	c.(2170-2172)GTG>GTA	p.V724V	ATRIP_uc011bbj.1_Silent_p.V597V|ATRIP_uc003ctg.1_Silent_p.V697V|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	724					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACACGGTGCTGCTGCTGC	0.632								Other_conserved_DNA_damage_response_genes					A	48506346	G	A	48506346	2	1	191	1	0	0	0	0	0	0	0	1	1205	1306	46	2		2	ATRIP	3	48506346	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	30012	48506346	149516084	391	103411											
COL7A1	1294	broad.mit.edu	37	chr3	48602622	48602622	+	Frame_Shift_Del	DEL	G	G	-													cagagtactcatcatcctcaGggggtacccgctctgcaggt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48602622delG	uc003ctz.2	-	116	8541	c.8540delC	c.(8539-8541)CCTfs	p.P2847fs	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2847	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCATCCTCAGGGGGTACCCG	0.592													-	48602622	G	-	48602622	7	5	191	1	0	1	0	1	0	0	0	0	3704	1000	35	0	306	0	COL7A1	3	48602622	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	96276	48602622	149419808	392	103412											
COL7A1	1294	broad.mit.edu	37	chr3	48623373	48623373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgatgagggactcttacCtttggacaatacactgggca	10	10	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48623373C>A	uc003ctz.2	-	28	3760	c.3759G>T	c.(3757-3759)AAG>AAT	p.K1253N		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1253	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACTCTTACCTTTGGACAAT	0.562													A	48623373	C	A	48623373	3	1	191	1	0	0	0	0	1	0	0	0	3704	695	24	5	5439	5	COL7A1	3	48623373	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	20751	48623373	149399057	393	103413											
IP6K2	51447	broad.mit.edu	37	chr3	48732686	48732686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaggacgcctttggcGcggggctccacatccatggc	13	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48732686G>A	uc003cup.2	-	2	283	c.39C>T	c.(37-39)CGC>CGT	p.R13R	IP6K2_uc003cuq.2_Silent_p.R13R|IP6K2_uc011bbq.1_Silent_p.R13R|IP6K2_uc011bbr.1_Silent_p.R13R|IP6K2_uc003cur.2_Silent_p.R13R|IP6K2_uc003cus.2_Silent_p.R13R|IP6K2_uc003cut.2_RNA|IP6K2_uc011bbs.1_RNA|IP6K2_uc011bbt.1_Silent_p.R68R|IP6K2_uc003cuv.1_Missense_Mutation_p.R139C|IP6K2_uc011bbu.1_Silent_p.R67R|IP6K2_uc011bbv.1_Silent_p.R71R|IP6K2_uc003cuw.1_Missense_Mutation_p.R138C	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	13					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						CGCCTTTGGCGCGGGGCTCCA	0.657													A	48732686	G	A	48732686	2	1	191	1	0	0	0	0	0	0	0	1	7789	1074	38	1		1	IP6K2	3	48732686	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	109313	48732686	149289744	394	103414											
P4HTM	54681	broad.mit.edu	37	chr3	49042326	49042326	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcgcctgtcgcctgagaTcgtggagctcagcgagccgc	13	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49042326T>G	uc003cvg.2	+	6	1269	c.920T>G	c.(919-921)ATC>AGC	p.I307S	P4HTM_uc003cvh.2_Missense_Mutation_p.I307S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	307	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|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			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	TCGCCTGAGATCGTGGAGCTC	0.642													G	49042326	T	G	49042326	3	3	191	1	0	0	0	0	1	0	0	0	11360	1435	50	5	942	5	P4HTM	3	49042326	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	309640	49042326	148980104	395	103415											
DALRD3	55152	broad.mit.edu	37	chr3	49054740	49054740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcctcctcacagctaAcaacatgtacaaccaggcag	7	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49054740A>G	uc003cvk.1	-	5	868	c.848T>C	c.(847-849)GTT>GCT	p.V283A	DALRD3_uc003cvl.1_Missense_Mutation_p.V283A|DALRD3_uc003cvm.1_Missense_Mutation_p.V116A|DALRD3_uc010hko.1_Missense_Mutation_p.V116A|DALRD3_uc011bca.1_Missense_Mutation_p.V283A	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	283					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCACAGCTAACAACATGTAC	0.498													G	49054740	A	G	49054740	3	3	191	1	0	0	0	0	1	0	0	0	4229	43	2	3	815	3	DALRD3	3	49054740	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	12414	49054740	148967690	396	103416											
USP19	10869	broad.mit.edu	37	chr3	49147938	49147938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggcagtgtagtggccAccaatcatgcctccatagtg	11	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49147938A>G	uc003cwd.1	-	24	3650	c.3489T>C	c.(3487-3489)GGT>GGC	p.G1163G	USP19_uc003cwa.2_Silent_p.G971G|USP19_uc003cvz.3_Silent_p.G1266G|USP19_uc011bcg.1_Silent_p.G1254G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G921G|USP19_uc011bch.1_Silent_p.G1264G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1163	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTAGTGGCCACCAATCATGC	0.562													G	49147938	A	G	49147938	2	3	191	1	0	0	0	0	0	0	0	1	17047	146	6	3		3	USP19	3	49147938	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	93198	49147938	148874492	397	103417											
USP19	10869	broad.mit.edu	37	chr3	49149374	49149374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctagcaactgagcgaggCgggcataagtgaggcgtgag	16	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49149374C>T	uc003cwd.1	-	19	2725	c.2564G>A	c.(2563-2565)CGC>CAC	p.R855H	USP19_uc003cwa.2_Missense_Mutation_p.R663H|USP19_uc003cvz.3_Missense_Mutation_p.R958H|USP19_uc011bcg.1_Missense_Mutation_p.R946H|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R613H|USP19_uc011bch.1_Missense_Mutation_p.R956H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	855	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCGAGGCGGGCATAAGT	0.597													T	49149374	C	T	49149374	3	4	191	1	0	0	0	0	1	0	0	0	17047	768	27	1	1424	1	USP19	3	49149374	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1436	49149374	148873056	398	103418											
AMT	275	broad.mit.edu	37	chr3	49456495	49456495	+	Frame_Shift_Del	DEL	G	G	-													cctgcctccaggcgcaggctGtccctggctgccagccctgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49456495delG	uc003cww.2	-	7	915	c.786delC	c.(784-786)GACfs	p.D262fs	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Frame_Shift_Del_p.D262fs|AMT_uc011bco.1_Frame_Shift_Del_p.D218fs|AMT_uc003cwy.2_Frame_Shift_Del_p.D214fs|AMT_uc011bcp.1_Frame_Shift_Del_p.D165fs|AMT_uc011bcq.1_Frame_Shift_Del_p.D206fs	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	262					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				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)	GGCGCAGGCTGTCCCTGGCTG	0.587													-	49456495	G	-	49456495	7	5	191	1	0	1	0	1	0	0	0	0	589	1368	48	0	465	0	AMT	3	49456495	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	307121	49456495	148565935	399	103419											
ACY1	95	broad.mit.edu	37	chr3	52021432	52021432	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgccaccatgagcgccaGctttgacttccgtgtggcac	10	15	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:52021432G>T	uc003dcp.2	+	11	876	c.815G>T	c.(814-816)AGC>ATC	p.S272I	ACY1_uc011bea.1_Missense_Mutation_p.S362I|ACY1_uc011beb.1_Missense_Mutation_p.S272I|ACY1_uc003dcq.2_Missense_Mutation_p.S272I	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	272					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				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)	ATGAGCGCCAGCTTTGACTTC	0.587													T	52021432	G	T	52021432	3	4	191	1	0	0	0	0	1	0	0	0	226	971	34	5	853	5	ACY1	3	52021432	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2564937	52021432	146000998	400	103420											
STAB1	23166	broad.mit.edu	37	chr3	52551981	52551981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgacacagcccacaccGtgggggacggcctcacctgc	12	18	1	0	rs150583969	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:52551981G>A	uc003dej.2	+	45	4797	c.4723G>A	c.(4723-4725)GTG>ATG	p.V1575M	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1575	Extracellular (Potential).|EGF-like 13.				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		AGCCCACACCGTGGGGGACGG	0.617													A	52551981	G	A	52551981	3	1	191	1	0	0	0	0	1	0	0	0	15236	1145	40	1	4901	1	STAB1	3	52551981	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	530549	52551981	145470449	401	103421											
ITIH1	3697	broad.mit.edu	37	chr3	52824813	52824813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctggtggtgtctgtggaCgacggtggcacctttgaggt	16	8	1	1	rs146607393	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:52824813C>T	uc003dfs.2	+	20	2394	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.D391D|ITIH1_uc010hmo.1_Silent_p.D344D|ITIH1_uc003dfu.2_Silent_p.D156D	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	790	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				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)		TGTCTGTGGACGACGGTGGCA	0.597													T	52824813	C	T	52824813	2	4	191	1	0	0	0	0	0	0	0	1	7903	535	19	1		1	ITIH1	3	52824813	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	272832	52824813	145197617	402	103422											
CACNA1D	776	broad.mit.edu	37	chr3	53694205	53694205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaccaaagaaacagaaggCgggaaccactcaagcggcaa	10	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:53694205C>T	uc003dgv.3	+	5	832	c.669C>T	c.(667-669)GGC>GGT	p.G223G	CACNA1D_uc003dgu.3_Silent_p.G223G|CACNA1D_uc003dgy.3_Silent_p.G223G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	223	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	AAACAGAAGGCGGGAACCACT	0.458													T	53694205	C	T	53694205	2	4	191	1	0	0	0	0	0	0	0	1	2541	755	27	1		1	CACNA1D	3	53694205	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	869392	53694205	144328225	403	103423											
LRTM1	57408	broad.mit.edu	37	chr3	54952711	54952711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggtttgagctcGcactccaagagttctcgctc	11	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:54952711G>A	uc003dhl.2	-	3	947	c.813C>T	c.(811-813)TGC>TGT	p.C271C	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	271	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GTTTGAGCTCGCACTCCAAGA	0.602													A	54952711	G	A	54952711	2	1	191	1	0	0	0	0	0	0	0	1	9044	1079	38	1		1	LRTM1	3	54952711	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1258506	54952711	143069719	404	103424											
ACOX2	8309	broad.mit.edu	37	chr3	58519212	58519212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagtcagcgtggggctGtgtatcacaaactcctgggt	15	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:58519212G>A	uc003dkl.2	-	5	718	c.543C>T	c.(541-543)CAC>CAT	p.H181H		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	181					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				0				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)		GCGTGGGGCTGTGTATCACAA	0.498											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58519212	G	A	58519212	2	1	191	1	0	0	0	0	0	0	0	1	159	1368	48	4		4	ACOX2	3	58519212	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3566501	58519212	139503218	405	103425											
PTPRG	5793	broad.mit.edu	37	chr3	62258734	62258734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatatcaggacacagcGtaactacctcgtccagactg	9	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:62258734G>A	uc003dlb.2	+	22	4015	c.3296G>A	c.(3295-3297)CGT>CAT	p.R1099H	PTPRG_uc003dlc.2_Missense_Mutation_p.R1070H|PTPRG_uc011bfi.1_Missense_Mutation_p.R345H|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1099	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGGACACAGCGTAACTACCTC	0.433													A	62258734	G	A	62258734	3	1	191	1	0	0	0	0	1	0	0	0	12802	1145	40	1	3382	1	PTPRG	3	62258734	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3739522	62258734	135763696	406	103426											
PSMD6	9861	broad.mit.edu	37	chr3	64004505	64004505	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcattaccttttccctgaGatctggtctttctaaggcaa	8	10	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:64004505G>T	uc003dma.1	-	4	731	c.706C>A	c.(706-708)CTC>ATC	p.L236I	PSMD6_uc003dlz.1_Missense_Mutation_p.L187I|PSMD6_uc003dmb.1_Missense_Mutation_p.L289I|PSMD6_uc003dmc.1_Missense_Mutation_p.L197I|PSMD6_uc003dmd.1_Missense_Mutation_p.L198I	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit,	236	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	ATPase activity|protein binding			central_nervous_system(1)|skin(1)	2		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)		TTTTCCCTGAGATCTGGTCTT	0.279													T	64004505	G	T	64004505	3	4	191	1	0	0	0	0	1	0	0	0	12702	942	33	5	483	5	PSMD6	3	64004505	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1745771	64004505	134017925	407	103427											
SUCLG2	8801	broad.mit.edu	37	chr3	67570955	67570956	+	Frame_Shift_Ins	INS	-	-	C													cacctcttcaatgtcgacgcINSccccctgggggctgcccacc					rs61756471	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:67570954_67570955G>GC	uc021xae.1	-	4	549_550	c.521_522C>GC	c.(520-522)ggcfs	p.G174fs	SUCLG2_uc010hob.3_Frame_Shift_Ins_p.G55fs|SUCLG2_uc003dna.4_Frame_Shift_Ins_p.G174fs	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174	ATP-grasp.			GV -> RS (in Ref. 2; AAC64397).	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			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)	CAATGTCGACGCCCCCCTGGGG	0.505													C	67570956	-	C	67570955	7	5	191	1	0	1	1	0	0	0	0	0	15364	739	26	0	949	0	SUCLG2	3	67570955	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	3566450	67570955	130451475	408	103428											
MITF	4286	broad.mit.edu	37	chr3	69928397	69928397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatgcaggagcaggagCgcagggagcagcagcagaag	18	8	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:69928397C>T	uc003dnz.2	+	2	333	c.217C>T	c.(217-219)CGC>TGC	p.R73C	MITF_uc011bgb.1_Missense_Mutation_p.R21C|MITF_uc003doa.2_Missense_Mutation_p.R72C|MITF_uc003dob.2_Missense_Mutation_p.R57C|MITF_uc003dod.2_Missense_Mutation_p.R48C|MITF_uc003doc.1_RNA	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	73					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			ovary(2)	2		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)		GGAGCAGGAGCGCAGGGAGCA	0.597			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						T	69928397	C	T	69928397	3	4	191	1	0	0	0	0	1	0	0	0	9596	768	27	1	388	1	MITF	3	69928397	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2357442	69928397	128094033	409	103429											
FOXP1	27086	broad.mit.edu	37	chr3	71015109	71015109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtatgctccattgccccGttcagctcttcccgtattgc	8	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:71015109G>A	uc003dol.2	-	16	2144	c.1821C>T	c.(1819-1821)AAC>AAT	p.N607N	FOXP1_uc003dom.2_Silent_p.N531N|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.N606N|FOXP1_uc003dop.2_Silent_p.N607N|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.N507N|FOXP1_uc003doj.2_Silent_p.N507N|FOXP1_uc003dok.2_Silent_p.N420N	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	607					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CCATTGCCCCGTTCAGCTCTT	0.512			T	PAX5	ALL								A	71015109	G	A	71015109	2	1	191	1	0	0	0	0	0	0	0	1	6026	1136	40	1		1	FOXP1	3	71015109	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1086712	71015109	127007321	410	103430											
PDZRN3	23024	broad.mit.edu	37	chr3	73432878	73432878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcccggatcttcagggCgcgctcccgcagcaggcggt	13	16	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:73432878C>T	uc003dpl.1	-	10	2935	c.2839G>A	c.(2839-2841)GCC>ACC	p.A947T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A604T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A645T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A664T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A667T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	947							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)		ATCTTCAGGGCGCGCTCCCGC	0.672													T	73432878	C	T	73432878	3	4	191	1	0	0	0	0	1	0	0	0	11709	768	27	1	365	1	PDZRN3	3	73432878	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2417769	73432878	124589552	411	103431											
CNTN3	5067	broad.mit.edu	37	chr3	74474011	74474011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctccagagtgtggtgGggggccgcagagcagcacaa	15	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:74474011G>A	uc003dpm.1	-	4	519	c.439C>T	c.(439-441)CCA>TCA	p.P147S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	147	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		GAGTGTGGTGGGGGGCCGCAG	0.443													A	74474011	G	A	74474011	3	1	191	1	0	0	0	0	1	0	0	0	3642	1232	43	4	2723	4	CNTN3	3	74474011	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1041133	74474011	123548419	412	103432											
EPHA3	2042	broad.mit.edu	37	chr3	89499405	89499405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgtatcagctgatgctgGactgctggcagaaagacagg	13	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:89499405G>A	uc003dqy.2	+	15	2800	c.2575G>A	c.(2575-2577)GAC>AAC	p.D859N	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	859	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		GCTGATGCTGGACTGCTGGCA	0.498										TSP Lung(6;0.00050)			A	89499405	G	A	89499405	3	1	191	1	0	0	0	0	1	0	0	0	5168	1174	41	4	2659	4	EPHA3	3	89499405	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	15025394	89499405	108523025	413	103433											
EPHA6	285220	broad.mit.edu	37	chr3	96706210	96706210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggatgaacataataggCccattcacacataccaggta	7	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:96706210C>T	uc010how.1	+	3	530	c.487C>T	c.(487-489)CCC>TCC	p.P163S	EPHA6_uc003drp.1_Missense_Mutation_p.P163S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	68	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						ACATAATAGGCCCATTCACAC	0.373													T	96706210	C	T	96706210	3	4	191	1	0	0	0	0	1	0	0	0	5171	739	26	2	497	2	EPHA6	3	96706210	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7206805	96706210	101316220	414	103434											
EPHA6	285220	broad.mit.edu	37	chr3	96706313	96706313	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctcagaaaatttatgtggAaatgaaattcacactaaggg	9	5	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:96706313A>T	uc010how.1	+	3	633	c.590A>T	c.(589-591)GAA>GTA	p.E197V	EPHA6_uc003drp.1_Missense_Mutation_p.E197V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	102	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						ATTTATGTGGAAATGAAATTC	0.398													T	96706313	A	T	96706313	3	4	191	1	0	0	0	0	1	0	0	0	5171	246	9	5	600	5	EPHA6	3	96706313	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	103	96706313	101316117	415	103435											
OR5H2	79310	broad.mit.edu	37	chr3	98002130	98002130	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctatgtagccatatgcaaAcctttactatatccagtgat	6	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:98002130A>G	uc003dsj.1	+	1	399	c.399A>G	c.(397-399)AAA>AAG	p.K133K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						CCATATGCAAACCTTTACTAT	0.383													G	98002130	A	G	98002130	2	3	191	1	0	0	0	0	0	0	0	1	11162	40	2	3		3	OR5H2	3	98002130	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1295817	98002130	100020300	416	103436											
ABI3BP	25890	broad.mit.edu	37	chr3	100469446	100469446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttcctggcgaactgctcTgaaataacctgagagagaaa	11	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:100469446T>C	uc003dun.2	-	35	3206	c.3121A>G	c.(3121-3123)AGA>GGA	p.R1041G	ABI3BP_uc003duj.2_Missense_Mutation_p.R621G|ABI3BP_uc003duk.2_Missense_Mutation_p.R750G|ABI3BP_uc003dul.2_Missense_Mutation_p.R871G|ABI3BP_uc011bhd.1_Missense_Mutation_p.R995G|ABI3BP_uc003dum.2_Missense_Mutation_p.R452G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	1041						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						CGAACTGCTCTGAAATAACCT	0.393													C	100469446	T	C	100469446	3	2	191	1	0	0	0	0	1	0	0	0	91	1588	55	3	110	3	ABI3BP	3	100469446	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2467316	100469446	97552984	417	103437											
IMPG2	50939	broad.mit.edu	37	chr3	100992437	100992439	+	In_Frame_Del	DEL	TTC	TTC	-													tcacccacctctgaaataaaTtcttcttcaaggtgctggtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:100992436_100992438ATTC>A	uc003duq.2	-	6	1018_1020	c.815_817GAAT>T	c.(814-819)gaattt>gTtt	p.272_273EF>V	IMPG2_uc011bhe.2_In_Frame_Del_p.135_136EF>V	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	272	SEA 1.				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						TCTGAAATAAATTCTTCTTCAAG	0.399													-	100992439	TTC	-	100992437	7	5	191	1	0	1	0	1	0	0	0	0	7729	1490	52	0	2961	0	IMPG2	3	100992437	In_Frame_Del	DEL	TTC	TCGA-CG-5723-01A-11D-1600-08	522991	100992437	97029993	418	103438											
RG9MTD1	54931	broad.mit.edu	37	chr3	101284698	101284698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttagatcaaatgatacGtattttgttatgtctgaaaa	6	6	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:101284698G>A	uc003duz.2	+	2	1221	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	358					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						CAAATGATACGTATTTTGTTA	0.368													A	101284698	G	A	101284698	3	1	191	1	0	0	0	0	1	0	0	0	13271	1145	40	1	1075	1	RG9MTD1	3	101284698	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	292261	101284698	96737732	419	103439											
FAM55C	91775	broad.mit.edu	37	chr3	101525973	101525973	+	Splice_Site	DEL	A	A	-													ttcccaggagaataaaaggtAaaaaaaagaataagcttgat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353													-	101525973	A	-	101525973	8	5	191	1	0	1	0	1	0	0	1	0	5586	377	13	0		0	FAM55C	3	101525973	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	241275	101525973	96496457	420	103440											
FAM55C	91775	broad.mit.edu	37	chr3	101535714	101535714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttataaagaccagtggaggcCcagaaagtttaagatgcgtc	11	7	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:101535714C>T	uc003dvn.2	+	7	1635	c.998C>T	c.(997-999)CCC>CTC	p.P333L	FAM55C_uc010hpn.2_Missense_Mutation_p.P333L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	333						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						CAGTGGAGGCCCAGAAAGTTT	0.373													T	101535714	C	T	101535714	3	4	191	1	0	0	0	0	1	0	0	0	5586	623	22	4	1012	4	FAM55C	3	101535714	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	9741	101535714	96486716	421	103441											
MORC1	27136	broad.mit.edu	37	chr3	108776228	108776228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagcccactttttcatgCattttgatcaaacggttatt	7	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:108776228C>T	uc003dxl.2	-	13	1224	c.1137G>A	c.(1135-1137)ATG>ATA	p.M379I	MORC1_uc011bhn.1_Missense_Mutation_p.M379I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	379					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTTTTTCATGCATTTTGATCA	0.388													T	108776228	C	T	108776228	3	4	191	1	0	0	0	0	1	0	0	0	9701	710	25	2	1881	2	MORC1	3	108776228	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7240514	108776228	89246202	422	103442											
DPPA4	55211	broad.mit.edu	37	chr3	109049561	109049561	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagccacttcaggaggatgTgtctcagaactttgcaggga	13	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:109049561T>C	uc003dxq.3	-	5	544	c.489A>G	c.(487-489)ACA>ACG	p.T163T	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Silent_p.T163T	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	163						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CAGGAGGATGTGTCTCAGAAC	0.478													C	109049561	T	C	109049561	2	2	191	1	0	0	0	0	0	0	0	1	4736	1683	59	3		3	DPPA4	3	109049561	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	273333	109049561	88972869	423	103443											
DPPA4	55211	broad.mit.edu	37	chr3	109050783	109050783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcccggtgaatcagatTaacaggtggcagtttagaag	12	6	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:109050783T>C	uc003dxq.3	-	3	329	c.274A>G	c.(274-276)AAT>GAT	p.N92D	DPPA4_uc011bho.1_Missense_Mutation_p.N92D|DPPA4_uc011bhp.1_Missense_Mutation_p.N92D	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	92						nucleus	protein binding			upper_aerodigestive_tract(1)	1						TGAATCAGATTAACAGGTGGC	0.542													C	109050783	T	C	109050783	3	2	191	1	0	0	0	0	1	0	0	0	4736	1754	61	3	660	3	DPPA4	3	109050783	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1222	109050783	88971647	424	103444											
PHLDB2	90102	broad.mit.edu	37	chr3	111693410	111693410	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacactcacttcttgttgtaGtgaactgaggcaacagtcca	8	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:111693410G>C	uc010hqa.2	+	18	4173	c.3762G>C	c.(3760-3762)TAG>TAC	p.*1254Y	PHLDB2_uc003dyc.2_Nonstop_Mutation_p.*1238Y|PHLDB2_uc003dyd.2_Nonstop_Mutation_p.*1211Y|PHLDB2_uc003dyg.2_Nonstop_Mutation_p.*1254Y|PHLDB2_uc003dyh.2_Nonstop_Mutation_p.*1211Y|PHLDB2_uc003dyi.2_Nonstop_Mutation_p.*745Y|PHLDB2_uc003dyj.2_Nonstop_Mutation_p.*309Y	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1254						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TCTTGTTGTAGTGAACTGAGG	0.463													C	111693410	G	C	111693410	4	2	191	1	0	0	0	0	0	0	0	0	11852	1024	36	5	3913	5	PHLDB2	3	111693410	Nonstop_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2642627	111693410	86329020	425	103445											
ATP6V1A	523	broad.mit.edu	37	chr3	113503111	113503111	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacttcgcactggtaaAcccctctctgtagagcttgg	9	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:113503111A>C	uc003eao.2	+	4	318	c.252A>C	c.(250-252)AAA>AAC	p.K84N	ATP6V1A_uc011bik.1_Missense_Mutation_p.K51N	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	84					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			ovary(2)|skin(1)	3						GCACTGGTAAACCCCTCTCTG	0.433													C	113503111	A	C	113503111	3	2	191	1	0	0	0	0	1	0	0	0	1177	40	2	5	262	5	ATP6V1A	3	113503111	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1809701	113503111	84519319	426	103446											
ZBTB20	26137	broad.mit.edu	37	chr3	114057858	114057858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagatactacttatccGtcagacacatgcatcctcat	6	11	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:114057858G>A	uc003ebi.2	-	5	2400	c.2220C>T	c.(2218-2220)GAC>GAT	p.D740D	ZBTB20_uc003ebj.2_Silent_p.D667D|ZBTB20_uc010hqp.2_Silent_p.D667D|ZBTB20_uc003ebk.2_Silent_p.D667D|ZBTB20_uc003ebl.2_Silent_p.D667D|ZBTB20_uc003ebm.2_Silent_p.D667D|ZBTB20_uc003ebn.2_Silent_p.D667D	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTACTTATCCGTCAGACACAT	0.413													A	114057858	G	A	114057858	2	1	191	1	0	0	0	0	0	0	0	1	17526	1136	40	1		1	ZBTB20	3	114057858	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	554747	114057858	83964572	427	103447											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					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)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	191	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	145	114058003	83964427	428	103448											
ZBTB20	26137	broad.mit.edu	37	chr3	114070178	114070178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccattctgcatggagcaCgcgtagagtgccgagtagat	13	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:114070178C>T	uc003ebi.2	-	4	927	c.747G>A	c.(745-747)GCG>GCA	p.A249A	ZBTB20_uc003ebj.2_Silent_p.A176A|ZBTB20_uc010hqp.2_Silent_p.A176A|ZBTB20_uc003ebk.2_Silent_p.A176A|ZBTB20_uc003ebl.2_Silent_p.A176A|ZBTB20_uc003ebm.2_Silent_p.A176A|ZBTB20_uc003ebn.2_Silent_p.A176A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCATGGAGCACGCGTAGAGTG	0.657													T	114070178	C	T	114070178	2	4	191	1	0	0	0	0	0	0	0	1	17526	523	19	1		1	ZBTB20	3	114070178	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	12175	114070178	83952252	429	103449											
KTELC1	56983	broad.mit.edu	37	chr3	119190219	119190219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagatgatggcagaggtAgtcagacggaagctagggac	17	5	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:119190219A>G	uc003ecm.2	+	3	324	c.240A>G	c.(238-240)GTA>GTG	p.V80V	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_5'UTR	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	80						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		TGGCAGAGGTAGTCAGACGGA	0.488													G	119190219	A	G	119190219	2	3	191	1	0	0	0	0	0	0	0	1	8583	407	15	3		3	KTELC1	3	119190219	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	5120041	119190219	78832211	430	103450											
KTELC1	56983	broad.mit.edu	37	chr3	119198976	119198976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttggccaatttatcctAcaggtcttggacggtgggac	12	9	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:119198976A>G	uc003ecm.2	+	5	619	c.535A>G	c.(535-537)ACA>GCA	p.T179A	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.T20A	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	179						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		AATTTATCCTACAGGTCTTGG	0.428													G	119198976	A	G	119198976	3	3	191	1	0	0	0	0	1	0	0	0	8583	391	14	3	553	3	KTELC1	3	119198976	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	8757	119198976	78823454	431	103451											
POLQ	10721	broad.mit.edu	37	chr3	121158877	121158877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgtctttgattcctgGcaaatatctacgccttccca	7	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:121158877G>A	uc003eee.3	-	27	7480	c.7351C>T	c.(7351-7353)CCA>TCA	p.P2451S	POLQ_uc003eed.2_Missense_Mutation_p.P1623S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2451					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TTGATTCCTGGCAAATATCTA	0.338								DNA_polymerases_(catalytic_subunits)					A	121158877	G	A	121158877	3	1	191	1	0	0	0	0	1	0	0	0	12208	1203	42	2	437	2	POLQ	3	121158877	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1959901	121158877	76863553	432	103452											
CASR	846	broad.mit.edu	37	chr3	121980496	121980496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatcatcgagtatttccGctggaactgggtgggcacaa	12	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:121980496G>A	uc003eev.3	+	4	986	c.614G>A	c.(613-615)CGC>CAC	p.R205H	CASR_uc003eew.3_Missense_Mutation_p.R205H	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	205	Extracellular (Potential).				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGTATTTCCGCTGGAACTGG	0.522													A	121980496	G	A	121980496	3	1	191	1	0	0	0	0	1	0	0	0	2682	1087	38	1	624	1	CASR	3	121980496	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	821619	121980496	76041934	433	103453											
PDIA5	10954	broad.mit.edu	37	chr3	122864423	122864423	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaggcagcagaagcccTccatggagaagcggatgtaa	14	8	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:122864423T>G	uc003egc.1	+	12	1021	c.965T>G	c.(964-966)CTC>CGC	p.L322R	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	322	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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		GCAGAAGCCCTCCATGGAGAA	0.507													G	122864423	T	G	122864423	3	3	191	1	0	0	0	0	1	0	0	0	11671	1551	54	5	1011	5	PDIA5	3	122864423	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	883927	122864423	75158007	434	103454											
KALRN	8997	broad.mit.edu	37	chr3	123946846	123946846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcccacagggtcttttcGgaatgatggtttgaaagctt	11	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:123946846G>A	uc003ehg.2	+	2	204	c.77G>A	c.(76-78)CGG>CAG	p.R26Q	KALRN_uc010hrv.1_Missense_Mutation_p.R26Q|KALRN_uc003ehf.1_Missense_Mutation_p.R26Q|KALRN_uc011bjy.1_Missense_Mutation_p.R26Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	26					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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGGTCTTTTCGGAATGATGGT	0.488													A	123946846	G	A	123946846	3	1	191	1	0	0	0	0	1	0	0	0	7975	1116	39	1	83	1	KALRN	3	123946846	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1082423	123946846	74075584	435	103455											
HEG1	57493	broad.mit.edu	37	chr3	124709815	124709815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcattttcaagcctaTatccatcttcacatgctgaa	5	10	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:124709815T>C	uc003ehs.3	-	13	3736	c.3668A>G	c.(3667-3669)TAT>TGT	p.Y1223C	HEG1_uc003ehr.3_Missense_Mutation_p.Y77C|HEG1_uc011bke.1_Missense_Mutation_p.Y1323C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1223	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						TTCAAGCCTATATCCATCTTC	0.363													C	124709815	T	C	124709815	3	2	191	1	0	0	0	0	1	0	0	0	7044	1406	49	3	497	3	HEG1	3	124709815	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	762969	124709815	73312615	436	103456											
PLXNA1	5361	broad.mit.edu	37	chr3	126746844	126746844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagcagatggagaaggGccccattgacgccatcacgg	13	12	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:126746844G>A	uc003ejg.2	+	23	4359	c.4355G>A	c.(4354-4356)GGC>GAC	p.G1452D	PLXNA1_uc003ejh.2_Missense_Mutation_p.G120D	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1475	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ATGGAGAAGGGCCCCATTGAC	0.637													A	126746844	G	A	126746844	3	1	191	1	0	0	0	0	1	0	0	0	12119	1203	42	2	4514	2	PLXNA1	3	126746844	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2037029	126746844	71275586	437	103457											
TPRA1	131601	broad.mit.edu	37	chr3	127294786	127294788	+	In_Frame_Del	DEL	GAA	GAA	-													cccagcctgaacctcaccagGaagaagaagcaggagctgac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:127294785_127294787GGAA>G	uc003ejn.2	-	6	938_940	c.605_607TTCC>C	c.(604-609)ttcctg>tCtg	p.202_203FL>S	TPRA1_uc003ejl.2_In_Frame_Del_p.202_203FL>S|TPRA1_uc010hsk.2_In_Frame_Del_p.202_203FL>S|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	202					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						AACCTCACCAGGAAGAAGAAGCA	0.611													-	127294788	GAA	-	127294786	7	5	191	1	0	1	0	1	0	0	0	0	16414	1165	41	0	535	0	TPRA1	3	127294786	In_Frame_Del	DEL	GAA	TCGA-CG-5723-01A-11D-1600-08	547942	127294786	70727644	438	103458											
MCM2	4171	broad.mit.edu	37	chr3	127327857	127327857	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctccaaggatcagcagatCggagagaaggtaggtggaag	15	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:127327857C>T	uc003ejp.2	+	8	1476	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	MCM2_uc011bkm.1_Silent_p.I343I|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.I357I	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	473	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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						ATCAGCAGATCGGAGAGAAGG	0.562													T	127327857	C	T	127327857	2	4	191	1	0	0	0	0	0	0	0	1	9386	874	31	1		1	MCM2	3	127327857	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	33071	127327857	70694573	439	103459											
ASTE1	28990	broad.mit.edu	37	chr3	130743595	130743595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagttttgtgtgcccttaaTagtgttcatatttctccact	6	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:130743595T>C	uc003env.1	-	3	998	c.556A>G	c.(556-558)ATT>GTT	p.I186V	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.I186V|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	186					DNA repair		nuclease activity				0						GTGCCCTTAATAGTGTTCATA	0.393													C	130743595	T	C	130743595	3	2	191	1	0	0	0	0	1	0	0	0	1062	1406	49	3	1499	3	ASTE1	3	130743595	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3415738	130743595	67278835	440	103460											
A4GNT	51146	broad.mit.edu	37	chr3	137843629	137843629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatggagatgacatcggtgTccatgtagatgccaccgtat	12	8	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:137843629T>C	uc003ers.2	-	3	702	c.500A>G	c.(499-501)GAC>GGC	p.D167G		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	167	Lumenal (Potential).|DXD motif (By similarity).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						GACATCGGTGTCCATGTAGAT	0.547													C	137843629	T	C	137843629	3	2	191	1	0	0	0	0	1	0	0	0	7	1667	58	3	526	3	A4GNT	3	137843629	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	7100034	137843629	60178801	441	103461											
PRR23B	389151	broad.mit.edu	37	chr3	138739139	138739139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaaacgtccacttccAgcccggcagacgagtcgtgc	11	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:138739139A>G	uc003esy.1	-	1	630	c.365T>C	c.(364-366)CTG>CCG	p.L122P		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	122										breast(1)	1						GTCCACTTCCAGCCCGGCAGA	0.632													G	138739139	A	G	138739139	3	3	191	1	0	0	0	0	1	0	0	0	12595	188	7	3	436	3	PRR23B	3	138739139	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	895510	138739139	59283291	442	103462											
CHST2	9435	broad.mit.edu	37	chr3	142840602	142840602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgacgtggcggtcttggCgccactgctgcgagacccgg	15	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:142840602C>T	uc003evm.2	+	2	1833	c.944C>T	c.(943-945)GCG>GTG	p.A315V		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	315	Lumenal (Potential).				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			ovary(3)	3						GCGGTCTTGGCGCCACTGCTG	0.667													T	142840602	C	T	142840602	3	4	191	1	0	0	0	0	1	0	0	0	3404	768	27	1	946	1	CHST2	3	142840602	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4101463	142840602	55181828	443	103463											
SIAH2	6478	broad.mit.edu	37	chr3	150460061	150460061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaccgtcatgaatcgaaCggggcgtggcctcccaggtc	12	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:150460061C>T	uc003eyi.2	-	2	1469	c.842G>A	c.(841-843)CGT>CAT	p.R281H		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	281	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			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGAATCGAACGGGGCGTGGC	0.547													T	150460061	C	T	150460061	3	4	191	1	0	0	0	0	1	0	0	0	14300	536	19	1	136	1	SIAH2	3	150460061	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7619459	150460061	47562369	444	103464											
GPR87	53836	broad.mit.edu	37	chr3	151012131	151012131	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaacattacacgcagacaaGaaaagtgtaatttctttgca	6	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:151012131G>A	uc003eyt.2	-	3	1264	c.903C>T	c.(901-903)TTC>TTT	p.F301F	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	301	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACGCAGACAAGAAAAGTGTAA	0.333													A	151012131	G	A	151012131	2	1	191	1	0	0	0	0	0	0	0	1	6716	933	33	4		4	GPR87	3	151012131	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	552070	151012131	47010299	445	103465											
LXN	56925	broad.mit.edu	37	chr3	158387236	158387236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatacctggaatattttgtGcttctagcggttccttcatg	8	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:158387236G>A	uc003fch.2	-	3	571	c.356C>T	c.(355-357)GCA>GTA	p.A119V	GFM1_uc003fcd.2_Intron|GFM1_uc003fce.2_Intron|GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron|LXN_uc011bov.1_Missense_Mutation_p.A119V	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	latexin	119						cytoplasm	metalloendopeptidase inhibitor activity|protein binding				0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AATATTTTGTGCTTCTAGCGG	0.323													A	158387236	G	A	158387236	3	1	191	1	0	0	0	0	1	0	0	0	9089	1319	46	2	328	2	LXN	3	158387236	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7375105	158387236	39635194	446	103466											
SLITRK3	22865	broad.mit.edu	37	chr3	164906625	164906625	+	Frame_Shift_Del	DEL	A	A	-													cagcaacaaagactgctgagAaaaacagaaccagcaggctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:164906625delA	uc003fej.3	-	2	2438	c.1994delT	c.(1993-1995)TTCfs	p.F665fs	SLITRK3_uc003fek.2_Frame_Shift_Del_p.F665fs	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	665	Helical; (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						GACTGCTGAGAAAAACAGAAC	0.532										HNSCC(40;0.11)			-	164906625	A	-	164906625	7	5	191	1	0	1	0	1	0	0	0	0	14744	246	9	0	943	0	SLITRK3	3	164906625	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	6519389	164906625	33115805	447	103467											
ZBBX	79740	broad.mit.edu	37	chr3	167000063	167000063	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgtaattctttttccaaAttgtctaaagtatgttgatc	5	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:167000063A>G	uc003fep.2	-	19	2423	c.2100T>C	c.(2098-2100)AAT>AAC	p.N700N	ZBBX_uc011bpc.1_Silent_p.N739N|ZBBX_uc003feq.2_Silent_p.N671N	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	700	Potential.					intracellular	zinc ion binding			ovary(2)	2						CTTTTTCCAAATTGTCTAAAG	0.338													G	167000063	A	G	167000063	2	3	191	1	0	0	0	0	0	0	0	1	17513	98	4	3		3	ZBBX	3	167000063	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2093438	167000063	31022367	448	103468											
LRRC31	79782	broad.mit.edu	37	chr3	169578504	169578504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccaagtctgggagaaaaGgcagcaaggcaactagaagt	12	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:169578504G>T	uc003fgc.1	-	3	409	c.332C>A	c.(331-333)CCT>CAT	p.P111H	LRRC31_uc010hwp.1_Intron	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	111										ovary(2)|skin(1)	3	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)			TGGGAGAAAAGGCAGCAAGGC	0.398													T	169578504	G	T	169578504	3	4	191	1	0	0	0	0	1	0	0	0	8986	1000	35	5	1354	5	LRRC31	3	169578504	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2578441	169578504	28443926	449	103469											
FNDC3B	64778	broad.mit.edu	37	chr3	172096210	172096211	+	Frame_Shift_Ins	INS	-	-	C													tcagcacaaccaaaagtgtcINSccccccaccatcaaaggtgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:172096209_172096210T>TC	uc003fhy.3	+	23	3330_3331	c.3158_3159T>TC	c.(3157-3159)gtcfs	p.V1053fs	FNDC3B_uc003fhz.4_Frame_Shift_Ins_p.V1053fs	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1053						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)		ACCAAAAGTGTCCCCCCCACCA	0.47													C	172096211	-	C	172096210	7	5	191	1	0	1	1	0	0	0	0	0	5970	842	30	0	3249	0	FNDC3B	3	172096210	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	2517706	172096210	25926220	450	103470											
GHSR	2693	broad.mit.edu	37	chr3	172163150	172163150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgaggttgcagtactggCtgatctgagcaatctccaag	11	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:172163150C>T	uc003fib.1	-	2	902	c.902G>A	c.(901-903)AGC>AAC	p.S301N		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	301	Extracellular (Potential).				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			lung(3)|ovary(1)|central_nervous_system(1)	5	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)			GCAGTACTGGCTGATCTGAGC	0.512													T	172163150	C	T	172163150	3	4	191	1	0	0	0	0	1	0	0	0	6375	797	28	2	202	2	GHSR	3	172163150	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	66940	172163150	25859280	451	103471											
MCF2L2	23101	broad.mit.edu	37	chr3	182947567	182947567	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatccattggagtgatataTccctgcagaggtgcaaacaa	9	8	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:182947567T>A	uc003fli.1	-	17	2022	c.1932A>T	c.(1930-1932)GGA>GGT	p.G644G	MCF2L2_uc003flj.1_Silent_p.G644G|MCF2L2_uc011bqr.1_RNA	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	644	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	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)			GAGTGATATATCCCTGCAGAG	0.368													A	182947567	T	A	182947567	2	1	191	1	0	0	0	0	0	0	0	1	9380	1422	50	5		5	MCF2L2	3	182947567	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	10784417	182947567	15074863	452	103472											
B3GNT5	84002	broad.mit.edu	37	chr3	182988259	182988259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggattggtcgtgttcatCgtggtgcccctcccattaga	11	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:182988259C>T	uc003flk.2	+	2	1203	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.R225C|B3GNT5_uc003flm.2_Missense_Mutation_p.R225C	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	225	Lumenal (Potential).				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			ovary(1)	1	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)			TCGTGTTCATCGTGGTGCCCC	0.433													T	182988259	C	T	182988259	3	4	191	1	0	0	0	0	1	0	0	0	1260	884	31	1	675	1	B3GNT5	3	182988259	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	40692	182988259	15034171	453	103473											
KLHL6	89857	broad.mit.edu	37	chr3	183273199	183273199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcggtggcaggagaattcCtgaatgtccacacacaagat	11	10	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:183273199C>A	uc003flr.2	-	1	301	c.243G>T	c.(241-243)CAG>CAT	p.Q81H	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.Q79H	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	81	BTB.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	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)			AGGAGAATTCCTGAATGTCCA	0.507													A	183273199	C	A	183273199	3	1	191	1	0	0	0	0	1	0	0	0	8393	680	24	5	1650	5	KLHL6	3	183273199	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	284940	183273199	14749231	454	103474											
CLDN16	10686	broad.mit.edu	37	chr3	190127782	190127782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcatactcagcccctcGcacagagacggccaaaatgt	8	14	2	1	rs139856985	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:190127782G>A	uc003fsi.2	+	5	943	c.875G>A	c.(874-876)CGC>CAC	p.R292H	CLDN16_uc010hze.2_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	292	Cytoplasmic (Potential).				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			ovary(1)	1	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)		TCAGCCCCTCGCACAGAGACG	0.443													A	190127782	G	A	190127782	3	1	191	1	0	0	0	0	1	0	0	0	3477	1087	38	1	893	1	CLDN16	3	190127782	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6854583	190127782	7894648	455	103475											
TMEM207	131920	broad.mit.edu	37	chr3	190158096	190158096	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgtgagaatcaattcGgggtctcctcagccagcact	11	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:190158096G>A	uc003fsj.2	-	4	308	c.241C>T	c.(241-243)CGA>TGA	p.R81*		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	81						integral to membrane					0	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;0.0176)		GAATCAATTCGGGGTCTCCTC	0.512													A	190158096	G	A	190158096	4	1	191	1	0	0	0	0	0	1	0	0	16129	1124	39	1	207	1	TMEM207	3	190158096	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	30314	190158096	7864334	456	103476											
ATP13A5	344905	broad.mit.edu	37	chr3	193002723	193002723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtttgtatagatgggttttCgaaatggctttcccttagaa	10	5	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:193002723C>T	uc011bsq.1	-	27	3206	c.3206G>A	c.(3205-3207)CGA>CAA	p.R1069Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1069					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		GATGGGTTTTCGAAATGGCTT	0.378													T	193002723	C	T	193002723	3	4	191	1	0	0	0	0	1	0	0	0	1127	884	31	1	464	1	ATP13A5	3	193002723	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2844627	193002723	5019707	457	103477											
TMEM44	93109	broad.mit.edu	37	chr3	194344358	194344358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgggcccaggctcagcGgcagggccagggcaaacaca	15	14	1	0	rs146561237		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:194344358G>A	uc010hzn.2	-	4	594	c.425C>T	c.(424-426)CCG>CTG	p.P142L	TMEM44_uc003fue.2_Missense_Mutation_p.P142L|TMEM44_uc003fud.2_Missense_Mutation_p.P142L|TMEM44_uc003fuf.2_Missense_Mutation_p.P142L|TMEM44_uc011bsv.1_Missense_Mutation_p.P142L|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	142	Helical; (Potential).					integral to membrane					0	all_cancers(143;1.41e-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;9.06e-06)		CAGGCTCAGCGGCAGGGCCAG	0.662													A	194344358	G	A	194344358	3	1	191	1	0	0	0	0	1	0	0	0	16165	1116	39	1	1068	1	TMEM44	3	194344358	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1341635	194344358	3678072	458	103478											
OSTalpha	200931	broad.mit.edu	37	chr3	195955038	195955038	+	Frame_Shift_Del	DEL	G	G	-													tggtcatggtggaaggctttGgggggaaggaggcagtgctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:195955037_195955037TG>T	uc003fwd.3	+	4	615	c.414_414TG>T	c.(412-414)tttfs	p.F138fs	OSTalpha_uc010iac.1_Frame_Shift_Del_p.F22fs|OSTalpha_uc003fwe.3_Frame_Shift_Del_p.F5fs	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	138						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGGAAGGCTTTGGGGGGAAGG	0.617													-	195955038	G	-	195955038	7	5	191	1	0	1	0	1	0	0	0	0	11300	1348	47	0	433	0	OSTalpha	3	195955038	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1610680	195955038	2067392	459	103479											
BDH1	622	broad.mit.edu	37	chr3	197273282	197273282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtttttcctgggagccgTgacaggggtctggagaggcg	19	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:197273282T>C	uc003fxr.2	-	3	435	c.33A>G	c.(31-33)TCA>TCG	p.S11S	BDH1_uc003fxs.2_Silent_p.S11S|BDH1_uc003fxt.2_Intron|BDH1_uc003fxu.2_Silent_p.S11S	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	11					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CTGGGAGCCGTGACAGGGGTC	0.557													C	197273282	T	C	197273282	2	2	191	1	0	0	0	0	0	0	0	1	1390	1683	59	3		3	BDH1	3	197273282	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1318244	197273282	749148	460	103480											
CPLX1	10815	broad.mit.edu	37	chr4	786350	786352	+	In_Frame_Del	DEL	CTT	CTT	-													ttcttggcggcgtctgggtcCttctcctcgtcaccccccag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:786349_786351CCTT>C	uc003gbi.3	-	2	268_270	c.77_79AAGG>G	c.(76-81)aaggac>aGac	p.26_27KD>R	CPLX1_uc003gbj.3_In_Frame_Del_p.26_27KD>R	NM_006651	NP_006642	O14810	CPLX1_HUMAN	Homo sapiens complexin 1 (CPLX1), mRNA.	26					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCGTCTGGGTCCTTCTCCTCGTC	0.655													-	786352	CTT	-	786350	7	5	191	1	0	1	0	1	0	0	0	0	3804	680	24	0	334	0	CPLX1	4	786350	In_Frame_Del	DEL	CTT	TCGA-CG-5723-01A-11D-1600-08		786350	190367926	461	103481											
GAK	2580	broad.mit.edu	37	chr4	887700	887700	+	Frame_Shift_Del	DEL	G	G	-													ccgtgtactgcgtgtcgtgcGgggggatcgagtacttccca					rs116865703	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:887699_887699CG>C	uc003gbm.4	-	7	1039	c.840_840CG>G	c.(838-840)ccgfs	p.P280fs	GAK_uc003gbn.4_Frame_Shift_Del_p.P201fs|GAK_uc010ibk.1_Frame_Shift_Del_p.P174fs|GAK_uc003gbl.4_Frame_Shift_Del_p.P144fs	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	280	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.P280L(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)		GCGTGTCGTGCGGGGGGATCG	0.607													-	887700	G	-	887700	7	5	191	1	0	1	0	1	0	0	0	0	6195	1116	39	0	3180	0	GAK	4	887700	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	101350	887700	190266576	462	103482											
MAEA	10296	broad.mit.edu	37	chr4	1305821	1305821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcagaagaacattgacCgggagaccagccacgtcacc	10	15	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:1305821C>T	uc003gda.2	+	2	154	c.124C>T	c.(124-126)CGG>TGG	p.R42W	MAEA_uc010ibs.1_Missense_Mutation_p.R42W|MAEA_uc003gdb.2_Missense_Mutation_p.R42W|MAEA_uc011bvb.1_Missense_Mutation_p.R42W|MAEA_uc003gdc.2_Missense_Mutation_p.R42W|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.R41W|MAEA_uc011bvd.1_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	42	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAACATTGACCGGGAGACCAG	0.637													T	1305821	C	T	1305821	3	4	191	1	0	0	0	0	1	0	0	0	9153	643	23	1	130	1	MAEA	4	1305821	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	418121	1305821	189848455	463	103483											
WHSC1	7468	broad.mit.edu	37	chr4	1980497	1980497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcaccccggacgggcGgtcctactgctgtgagcatg	14	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:1980497G>A	uc003gdz.3	+	22	4135	c.3959G>A	c.(3958-3960)CGG>CAG	p.R1320Q	WHSC1_uc003geb.3_Missense_Mutation_p.R1320Q|WHSC1_uc003gec.3_Missense_Mutation_p.R1320Q|WHSC1_uc003ged.3_Missense_Mutation_p.R1320Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.R539Q|WHSC1_uc011bvh.1_Missense_Mutation_p.R381Q|WHSC1_uc010icf.2_Missense_Mutation_p.R668Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1320					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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCGGACGGGCGGTCCTACTGC	0.612			T	IGH@	MM								A	1980497	G	A	1980497	3	1	191	1	0	0	0	0	1	0	0	0	17359	1116	39	1	4117	1	WHSC1	4	1980497	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	674676	1980497	189173779	464	103484											
ADD1	118	broad.mit.edu	37	chr4	2900204	2900204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgtcagttggagagagCgttgaggaggccttctatta	14	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:2900204C>T	uc003gfr.2	+	8	1118	c.930C>T	c.(928-930)AGC>AGT	p.S310S	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.S310S|ADD1_uc003gfo.2_Silent_p.S310S|ADD1_uc003gfp.2_Silent_p.S310S|ADD1_uc003gfq.2_Silent_p.S310S|ADD1_uc003gfs.2_Silent_p.S310S|ADD1_uc003gft.3_Silent_p.S310S|ADD1_uc003gfu.2_Silent_p.S95S	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	310					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			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGGAGAGAGCGTTGAGGAGG	0.507													T	2900204	C	T	2900204	2	4	191	1	0	0	0	0	0	0	0	1	304	767	27	1		1	ADD1	4	2900204	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	919707	2900204	188254072	465	103485											
HTT	3064	broad.mit.edu	37	chr4	3237477	3237477	+	Frame_Shift_Del	DEL	G	G	-													caccgggccatggcggctctGggcctgatgctcacctgcat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:3237477delG	uc011bvq.1	+	64	8908	c.8763delG	c.(8761-8763)CTGfs	p.L2921fs		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2919					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGGCGGCTCTGGGCCTGATGC	0.602													-	3237477	G	-	3237477	7	5	191	1	0	1	0	1	0	0	0	0	7457	1335	47	0	9007	0	HTT	4	3237477	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	337273	3237477	187916799	466	103486											
RGS12	6002	broad.mit.edu	37	chr4	3424203	3424203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtggtggctgtcaaggCgggcttctccatcaaagaca	13	11	3	1	rs144503690		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:3424203C>T	uc003ggw.2	+	11	3843	c.2939C>T	c.(2938-2940)GCG>GTG	p.A980V	RGS12_uc003ggv.2_Missense_Mutation_p.A980V|RGS12_uc003ggy.1_Missense_Mutation_p.A378V|RGS12_uc003ggz.2_Missense_Mutation_p.A332V|RGS12_uc010icu.1_Missense_Mutation_p.A179V|RGS12_uc011bvs.1_Missense_Mutation_p.A322V|RGS12_uc003gha.2_Missense_Mutation_p.A322V|RGS12_uc010icv.2_Missense_Mutation_p.A179V|RGS12_uc003ghb.2_Missense_Mutation_p.A179V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	980	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGTCAAGGCGGGCTTCTCC	0.627													T	3424203	C	T	3424203	3	4	191	1	0	0	0	0	1	0	0	0	13295	768	27	1	3035	1	RGS12	4	3424203	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	186726	3424203	187730073	467	103487											
STK32B	55351	broad.mit.edu	37	chr4	5458560	5458560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgaaatccactcggtcacGcccatcgatgaaatcctcaa	6	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:5458560G>A	uc003gih.1	+	8	757	c.693G>A	c.(691-693)ACG>ACA	p.T231T	STK32B_uc010ida.1_Silent_p.T184T	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	231	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						ACTCGGTCACGCCCATCGATG	0.532													A	5458560	G	A	5458560	2	1	191	1	0	0	0	0	0	0	0	1	15297	1074	38	1		1	STK32B	4	5458560	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2034357	5458560	185695716	468	103488											
EVC2	132884	broad.mit.edu	37	chr4	5620258	5620258	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacgaactctgcttctcGccacgcagtctgaaattgct	7	14	4	1	rs146538906		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:5620258G>A	uc003gij.2	-	15	2707	c.2653C>T	c.(2653-2655)CGA>TGA	p.R885*	EVC2_uc011bwb.1_Nonsense_Mutation_p.R325*|EVC2_uc003gik.2_Nonsense_Mutation_p.R805*	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	885						integral to membrane				large_intestine(3)|ovary(2)	5						TCTGCTTCTCGCCACGCAGTC	0.617													A	5620258	G	A	5620258	4	1	191	1	0	0	0	0	0	1	0	0	5286	1095	38	1	1305	1	EVC2	4	5620258	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	161698	5620258	185534018	469	103489											
EVC2	132884	broad.mit.edu	37	chr4	5624349	5624349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttcagtctctgcctcaCgctctggacaccctcctggt	7	17	4	0	rs138128087		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:5624349C>T	uc003gij.2	-	14	2470	c.2416G>A	c.(2416-2418)GTG>ATG	p.V806M	EVC2_uc011bwb.1_Missense_Mutation_p.V246M|EVC2_uc003gik.2_Missense_Mutation_p.V726M	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	806						integral to membrane				large_intestine(3)|ovary(2)	5						CTCTGCCTCACGCTCTGGACA	0.642													T	5624349	C	T	5624349	3	4	191	1	0	0	0	0	1	0	0	0	5286	536	19	1	1546	1	EVC2	4	5624349	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4091	5624349	185529927	470	103490											
MAN2B2	23324	broad.mit.edu	37	chr4	6610856	6610856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtaaccgaacggtgcgcGtgacccaggaattcctggag	14	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:6610856G>A	uc003gjf.1	+	12	1873	c.1837G>A	c.(1837-1839)GTG>ATG	p.V613M	MAN2B2_uc003gje.1_Missense_Mutation_p.V613M|MAN2B2_uc011bwf.1_Missense_Mutation_p.V562M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	613					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						AACGGTGCGCGTGACCCAGGA	0.572													A	6610856	G	A	6610856	3	1	191	1	0	0	0	0	1	0	0	0	9217	1145	40	1	1883	1	MAN2B2	4	6610856	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	986507	6610856	184543420	471	103491											
ABLIM2	84448	broad.mit.edu	37	chr4	8108356	8108356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctgggagcagcctgggGctgcgacactgttgggaaag	19	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:8108356G>A	uc003gko.2	-	2	162	c.19C>T	c.(19-21)CCC>TCC	p.P7S	ABLIM2_uc003gkj.3_Missense_Mutation_p.P7S|ABLIM2_uc003gkm.3_Missense_Mutation_p.P7S|ABLIM2_uc003gkp.2_Missense_Mutation_p.P7S|ABLIM2_uc003gkq.2_Missense_Mutation_p.P7S|ABLIM2_uc003gkr.2_Missense_Mutation_p.P7S|ABLIM2_uc003gks.3_Missense_Mutation_p.P7S|ABLIM2_uc011bwl.1_Missense_Mutation_p.P12S	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	7					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						GCAGCCTGGGGCTGCGACACT	0.622													A	8108356	G	A	8108356	3	1	191	1	0	0	0	0	1	0	0	0	95	1203	42	2	2052	2	ABLIM2	4	8108356	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1497500	8108356	183045920	472	103492											
BOD1L	259282	broad.mit.edu	37	chr4	13601693	13601693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgactgaggggtcGccttcctcttgagggacagc	16	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:13601693G>A	uc003gmz.1	-	10	6948	c.6831C>T	c.(6829-6831)GGC>GGT	p.G2277G	BOD1L_uc010idr.1_Silent_p.G1614G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2277							DNA binding			ovary(5)|breast(1)	6						CTGAGGGGTCGCCTTCCTCTT	0.562													A	13601693	G	A	13601693	2	1	191	1	0	0	0	0	0	0	0	1	1483	1074	38	1		1	BOD1L	4	13601693	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5493337	13601693	177552583	473	103493											
C1QTNF7	114905	broad.mit.edu	37	chr4	15437526	15437526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaaatggttcccctggGccccatggtcgcatcggcct	13	14	0	0	rs141616746	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:15437526G>A	uc011bxb.1	+	2	386	c.159G>A	c.(157-159)GGG>GGA	p.G53G	C1QTNF7_uc003gno.2_Silent_p.G60G|C1QTNF7_uc003gnp.2_Silent_p.G53G	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	53	Collagen-like.					collagen					0						GTTCCCCTGGGCCCCATGGTC	0.537													A	15437526	G	A	15437526	2	1	191	1	0	0	0	0	0	0	0	1	1968	1190	42	2		2	C1QTNF7	4	15437526	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1835833	15437526	175716750	474	103494											
LCORL	254251	broad.mit.edu	37	chr4	17963635	17963635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgttgactgtgaagaAtcaagagatggtatacaatc	12	4	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:17963635A>T	uc003gpq.2	-	4	332	c.321T>A	c.(319-321)GAT>GAA	p.D107E	LCORL_uc011bxk.1_Missense_Mutation_p.D20E	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						ACTGTGAAGAATCAAGAGATG	0.328													T	17963635	A	T	17963635	3	4	191	1	0	0	0	0	1	0	0	0	8690	98	4	5	1688	5	LCORL	4	17963635	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2526109	17963635	173190641	475	103495											
GPR125	166647	broad.mit.edu	37	chr4	22394224	22394224	+	Frame_Shift_Del	DEL	T	T	-													ggatcctggcatcttttagcTtttttagtgacttgtttgta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:22394223_22394223CT>C	uc003gqm.1	-	16	2837	c.2572_2572AG>G	c.(2572-2574)gctfs	p.A858fs	GPR125_uc010ieo.1_Frame_Shift_Del_p.A714fs|GPR125_uc003gql.1_5'UTR	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	858					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)				CATCTTTTAGCTTTTTTAGTG	0.398													-	22394224	T	-	22394224	7	5	191	1	0	1	0	1	0	0	0	0	6639	1606	56	0	1406	0	GPR125	4	22394224	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	4430589	22394224	168760052	476	103496											
DHX15	1665	broad.mit.edu	37	chr4	24578185	24578185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcatagcatttgttgaaGctcgcaactccttctccttt	6	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:24578185G>A	uc003gqx.2	-	2	356	c.188C>T	c.(187-189)GCT>GTT	p.A63V		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	63					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				ATTTGTTGAAGCTCGCAActc	0.408													A	24578185	G	A	24578185	3	1	191	1	0	0	0	0	1	0	0	0	4501	971	34	2	2251	2	DHX15	4	24578185	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2183961	24578185	166576091	477	103497											
SEL1L3	23231	broad.mit.edu	37	chr4	25849480	25849480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctacccaaagatggtaCaacattctgaaaaaaagaaa	6	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:25849480C>T	uc003gru.3	-	2	321	c.169G>A	c.(169-171)GTA>ATA	p.V57I		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	57						integral to membrane	binding				0						AAAGATGGTACAACATTCTGA	0.338													T	25849480	C	T	25849480	3	4	191	1	0	0	0	0	1	0	0	0	14012	478	17	4	3321	4	SEL1L3	4	25849480	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1271295	25849480	165304796	478	103498											
CCKAR	886	broad.mit.edu	37	chr4	26487494	26487494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagatatggctaccagatTaaaggtagatacactcacag	9	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:26487494T>C	uc003gse.1	-	3	544	c.391A>G	c.(391-393)AAT>GAT	p.N131D		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	131	Helical; Name=3; (Potential).				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			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GCTACCAGATTAAAGGTAGAT	0.433													C	26487494	T	C	26487494	3	2	191	1	0	0	0	0	1	0	0	0	2880	1754	61	3	907	3	CCKAR	4	26487494	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	638014	26487494	164666782	479	103499											
PCDH7	5099	broad.mit.edu	37	chr4	30724650	30724650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacaacccgcccatgttcGgccagtcggtggtggaggtt	14	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:30724650G>A	uc003gsk.1	+	1	2614	c.1606G>A	c.(1606-1608)GGC>AGC	p.G536S	PCDH7_uc011bxw.1_Missense_Mutation_p.G489S|PCDH7_uc011bxx.1_Missense_Mutation_p.G536S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	536	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GCCCATGTTCGGCCAGTCGGT	0.622													A	30724650	G	A	30724650	3	1	191	1	0	0	0	0	1	0	0	0	11516	1116	39	1	1608	1	PCDH7	4	30724650	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4237156	30724650	160429626	480	103500											
PCDH7	5099	broad.mit.edu	37	chr4	30725630	30725630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgcacatcccactcacCcaggatatagctggtgaccc	8	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:30725630C>T	uc003gsk.1	+	1	3594	c.2586C>T	c.(2584-2586)ACC>ACT	p.T862T	PCDH7_uc011bxw.1_Silent_p.T815T|PCDH7_uc011bxx.1_Silent_p.T862T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	862	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						TCCCACTCACCCAGGATATAG	0.453													T	30725630	C	T	30725630	2	4	191	1	0	0	0	0	0	0	0	1	11516	610	22	4		4	PCDH7	4	30725630	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	980	30725630	160428646	481	103501											
TLR6	10333	broad.mit.edu	37	chr4	38830759	38830759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggcaggatatcttttgCaactgattatgagataaatc	10	5	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:38830759C>T	uc003gtm.2	-	1	402	c.336G>A	c.(334-336)TTG>TTA	p.L112L	TLR6_uc010ifg.1_Silent_p.L112L	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	112	LRR 3.|Extracellular (Potential).				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			ovary(2)	2						ATATCTTTTGCAACTGATTAT	0.363													T	38830759	C	T	38830759	2	4	191	1	0	0	0	0	0	0	0	1	15952	709	25	2		2	TLR6	4	38830759	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8105129	38830759	152323517	482	103502											
KCTD8	386617	broad.mit.edu	37	chr4	44177000	44177000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagggtctgaaagagttcaCtgtttctgcgtttgtctggt	13	6	4	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:44177000C>G	uc003gwu.2	-	2	1513	c.1229G>C	c.(1228-1230)AGT>ACT	p.S410T		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	410						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						AAAGAGTTCACTGTTTCTGCG	0.448										HNSCC(17;0.042)			G	44177000	C	G	44177000	3	3	191	1	0	0	0	0	1	0	0	0	8115	565	20	5	196	5	KCTD8	4	44177000	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5346241	44177000	146977276	483	103503											
ATP10D	57205	broad.mit.edu	37	chr4	47559796	47559796	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgcttaacagtgggaaagAgccatcttctggagttccaa	10	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:47559796A>C	uc003gxk.1	+	12	2104	c.1940A>C	c.(1939-1941)GAG>GCG	p.E647A	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	647	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						AGTGGGAAAGAGCCATCTTCT	0.488													C	47559796	A	C	47559796	3	2	191	1	0	0	0	0	1	0	0	0	1118	304	11	5	1982	5	ATP10D	4	47559796	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3382796	47559796	143594480	484	103504											
PDGFRA	5156	broad.mit.edu	37	chr4	55146618	55146618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagatcactctatgatcgTccagcctcatataagaagaa	7	10	3	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:55146618T>C	uc003han.3	+	16	2623	c.2292T>C	c.(2290-2292)CGT>CGC	p.R764R	PDGFRA_uc003haa.2_Silent_p.R524R|PDGFRA_uc010igq.1_Silent_p.R658R|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Silent_p.R143R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	764	Protein kinase.|Cytoplasmic (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	TCTATGATCGTCCAGCCTCAT	0.343			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			C	55146618	T	C	55146618	2	2	191	1	0	0	0	0	0	0	0	1	11661	1654	58	3		3	PDGFRA	4	55146618	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	7586822	55146618	136007658	485	103505											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69095169	69095169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataatgttttggactttcCgtgtcatatatggtttattt	7	4	1	0	rs139488710	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:69095169C>T	uc003hdw.3	-	8	888	c.752G>A	c.(751-753)CGG>CAG	p.R251Q		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TTGGACTTTCCGTGTCATATA	0.338													T	69095169	C	T	69095169	3	4	191	1	0	0	0	0	1	0	0	0	16237	652	23	1	510	1	TMPRSS11B	4	69095169	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	13948551	69095169	122059107	486	103506											
UGT2B17	7367	broad.mit.edu	37	chr4	69433933	69433933	+	Frame_Shift_Del	DEL	A	A	-													catctatcgaacattttcatAaaaaaatcttccaaatcatt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:69433932_69433932TA>T	uc021xov.1	-	0	314	c.271_271TA>A	c.(271-273)atgfs	p.M91fs		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	91					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						AACATTTTCATAAAAAAATCT	0.274													-	69433933	A	-	69433933	7	5	191	1	0	1	0	1	0	0	0	0	16956	359	13	0	1346	0	UGT2B17	4	69433933	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	338764	69433933	121720343	487	103507											
CSN3	1448	broad.mit.edu	37	chr4	71114945	71114945	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatagccacccacccacTgtggtacgtcgcccaaacct	6	18	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:71114945T>C	uc003hfe.3	+	4	376	c.318T>C	c.(316-318)ACT>ACC	p.T106T		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	106						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						ACCCACCCACTGTGGTACGTC	0.468													C	71114945	T	C	71114945	2	2	191	1	0	0	0	0	0	0	0	1	3949	1567	55	3		3	CSN3	4	71114945	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1681012	71114945	120039331	488	103508											
C4orf35	85438	broad.mit.edu	37	chr4	71201895	71201895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacctccacaactgaaaCggatatctttgaactactga	6	11	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:71201895C>T	uc003hff.2	+	1	1225	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	380						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				ACAACTGAAACGGATATCTTT	0.398													T	71201895	C	T	71201895	3	4	191	1	0	0	0	0	1	0	0	0	2265	536	19	1	1141	1	C4orf35	4	71201895	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	86950	71201895	119952381	489	103509											
PPEF2	5470	broad.mit.edu	37	chr4	76793201	76793201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcatggtgagtgtgtgGgtcaccttgttagcttgata	13	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:76793201G>A	uc003hix.2	-	13	1983	c.1626C>T	c.(1624-1626)ACC>ACT	p.T542T	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.T542T	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	542					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			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGAGTGTGTGGGTCACCTTGT	0.433													A	76793201	G	A	76793201	2	1	191	1	0	0	0	0	0	0	0	1	12308	1219	43	4		4	PPEF2	4	76793201	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5591306	76793201	114361075	490	103510											
SEC31A	22872	broad.mit.edu	37	chr4	83785682	83785682	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaacacatggtgctgctGctgctgctgctcagctccct	10	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:83785682G>A	uc003hnf.2	-	11	1431	c.1267C>T	c.(1267-1269)CAG>TAG	p.Q423*	SEC31A_uc003hne.2_Nonsense_Mutation_p.Q195*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hng.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hni.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.Q423*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.Q418*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hno.2_Nonsense_Mutation_p.Q423*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	423	Interaction with SEC13.				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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TGGTGCTGCTGCTGCTGCTGC	0.453													A	83785682	G	A	83785682	4	1	191	1	0	0	0	0	0	1	0	0	13998	1328	46	2	2463	2	SEC31A	4	83785682	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6992481	83785682	107368594	491	103511											
THAP9	79725	broad.mit.edu	37	chr4	83838784	83838784	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatttgaaaaatcatgtactGaaagtgaatagtgccaccca	7	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:83838784G>A	uc003hnt.2	+	5	1538	c.1419G>A	c.(1417-1419)CTG>CTA	p.L473L	THAP9_uc003hns.1_Silent_p.L329L|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Silent_p.L190L	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	473							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				ATCATGTACTGAAAGTGAATA	0.388													A	83838784	G	A	83838784	2	1	191	1	0	0	0	0	0	0	0	1	15848	1277	45	4		4	THAP9	4	83838784	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	53102	83838784	107315492	492	103512											
WDFY3	23001	broad.mit.edu	37	chr4	85617311	85617311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccactcatgtagatgggCactcacgtaatcacactcca	6	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:85617311C>T	uc003hpd.2	-	58	9121	c.8713G>A	c.(8713-8715)GCC>ACC	p.A2905T	WDFY3_uc003hpe.1_Missense_Mutation_p.A516T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2905	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTAGATGGGCACTCACGTAA	0.408													T	85617311	C	T	85617311	3	4	191	1	0	0	0	0	1	0	0	0	17267	710	25	2	1911	2	WDFY3	4	85617311	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1778527	85617311	105536965	493	103513											
PTPN13	5783	broad.mit.edu	37	chr4	87696414	87696414	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcagattagttattggaCgagttctagaattacccaga	9	7	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:87696414C>T	uc003hpz.2	+	34	6079	c.5599C>T	c.(5599-5601)CGA>TGA	p.R1867*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R1872*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R1848*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.R1676*|PTPN13_uc003hqc.1_Nonsense_Mutation_p.R233*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1867	PDZ 4.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTTATTGGACGAGTTCTAGA	0.388													T	87696414	C	T	87696414	4	4	191	1	0	0	0	0	0	1	0	0	12782	528	19	1	5744	1	PTPN13	4	87696414	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2079103	87696414	103457862	494	103514											
DMP1	1758	broad.mit.edu	37	chr4	88584427	88584427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgcctatcacaacaaAcccattggggaccaagatga	9	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:88584427A>C	uc003hqv.2	+	6	1601	c.1497A>C	c.(1495-1497)AAA>AAC	p.K499N	DMP1_uc003hqw.2_Missense_Mutation_p.K483N	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	499					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ATCACAACAAACCCATTGGGG	0.448													C	88584427	A	C	88584427	3	2	191	1	0	0	0	0	1	0	0	0	4583	40	2	5	1515	5	DMP1	4	88584427	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	888013	88584427	102569849	495	103515											
SMARCAD1	56916	broad.mit.edu	37	chr4	95173910	95173911	+	Frame_Shift_Ins	INS	-	-	A													tggctttaacaagaaacgtaINSaaaaaaatgtttttaatcca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:95173909_95173910T>TA	uc003htb.4	+	8	1209_1210	c.1032_1033T>TA	c.(1030-1035)cgtaaafs	p.R344fs	SMARCAD1_uc003htc.4_Frame_Shift_Ins_p.R344fs|SMARCAD1_uc003htd.4_Frame_Shift_Ins_p.R344fs|SMARCAD1_uc010ila.3_Frame_Shift_Ins_p.R207fs|SMARCAD1_uc011cdw.2_5'Flank	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	344					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	p.R344C(1)		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)		ACAAGAAACGTAAAAAAAATGT	0.312													A	95173911	-	A	95173910	7	5	191	1	0	1	1	0	0	0	0	0	14772	363	13	0	1063	0	SMARCAD1	4	95173910	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	6589483	95173910	95980366	496	103516											
SMARCAD1	56916	broad.mit.edu	37	chr4	95198191	95198191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaataaccgtttgctgCtcacaggcacacctgtacag	9	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:95198191C>T	uc003htc.3	+	16	2218	c.1963C>T	c.(1963-1965)CTC>TTC	p.L655F	SMARCAD1_uc003htb.3_Missense_Mutation_p.L655F|SMARCAD1_uc003htd.3_Missense_Mutation_p.L655F|SMARCAD1_uc010ila.2_Missense_Mutation_p.L518F|SMARCAD1_uc011cdw.1_Missense_Mutation_p.L225F	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	655	Helicase ATP-binding.				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			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCGTTTGCTGCTCACAGGCAC	0.398													T	95198191	C	T	95198191	3	4	191	1	0	0	0	0	1	0	0	0	14772	797	28	2	2021	2	SMARCAD1	4	95198191	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	24281	95198191	95956085	497	103517											
BMPR1B	658	broad.mit.edu	37	chr4	96035949	96035949	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctggttgcctaggactAgaaggctcagattttcagtg	11	8	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:96035949A>C	uc003htm.3	+	5	496	c.222A>C	c.(220-222)CTA>CTC	p.L74L	BMPR1B_uc010ilb.2_Silent_p.L74L|BMPR1B_uc003htn.3_Silent_p.L74L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	74	Extracellular (Potential).				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			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GCCTAGGACTAGAAGGCTCAG	0.418													C	96035949	A	C	96035949	2	2	191	1	0	0	0	0	0	0	0	1	1470	407	15	5		5	BMPR1B	4	96035949	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	837758	96035949	95118327	498	103518											
PDHA2	5161	broad.mit.edu	37	chr4	96761471	96761471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactacagtgctcactagggCggaggggcttaaatactaca	11	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:96761471C>T	uc003htr.3	+	1	233	c.170C>T	c.(169-171)GCG>GTG	p.A57V		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	57					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTCACTAGGGCGGAGGGGCTT	0.463													T	96761471	C	T	96761471	3	4	191	1	0	0	0	0	1	0	0	0	11665	768	27	1	172	1	PDHA2	4	96761471	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	725522	96761471	94392805	499	103519											
DDIT4L	115265	broad.mit.edu	37	chr4	101109133	101109133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggctccgttgaggaaaGccgcaggacatcttgagcaa	14	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:101109133G>A	uc003hvq.2	-	3	486	c.283C>T	c.(283-285)CTT>TTT	p.L95F		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	95					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GTTGAGGAAAGCCGCAGGACA	0.458													A	101109133	G	A	101109133	3	1	191	1	0	0	0	0	1	0	0	0	4332	971	34	2	302	2	DDIT4L	4	101109133	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4347662	101109133	90045143	500	103520											
MANBA	4126	broad.mit.edu	37	chr4	103555971	103555971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgccttgcagagccccaCggcctccttcggtgaggaca	12	16	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:103555971C>T	uc003hwg.2	-	16	2489	c.2389G>A	c.(2389-2391)GTG>ATG	p.V797M	MANBA_uc011ces.1_Missense_Mutation_p.V740M	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	797					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CAGAGCCCCACGGCCTCCTTC	0.582													T	103555971	C	T	103555971	3	4	191	1	0	0	0	0	1	0	0	0	9219	536	19	1	258	1	MANBA	4	103555971	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2446838	103555971	87598305	501	103521											
TET2	54790	broad.mit.edu	37	chr4	106157549	106157550	+	Frame_Shift_Ins	INS	-	-	C													aatataaatcgtagaaattcINScccttatagtcagaccatga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:106157548_106157549T>TC	uc011cez.2	+	2	2917_2918	c.2512_2513T>TC	c.(2512-2514)tccfs	p.S838fs	TET2_uc003hxk.3_Frame_Shift_Ins_p.S817fs|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Frame_Shift_Ins_p.S817fs|TET2_uc010ilp.2_Frame_Shift_Ins_p.S817fs|TET2_uc021xql.1_Frame_Shift_Ins_p.S817fs	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	817	Gln-rich.				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	p.T838A(1)|p.S817fs*2(1)		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)		TCGTAGAAATTCCCCTTATAGT	0.356			"Mis N, F"		MDS								C	106157550	-	C	106157549	7	5	191	1	0	1	1	0	0	0	0	0	15767	855	30	0	2452	0	TET2	4	106157549	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	2601578	106157549	84996727	502	103522											
SEC24B	10427	broad.mit.edu	37	chr4	110451569	110451569	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcactctgcattgatggcGcccagctccctcaagttgtt	9	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:110451569G>T	uc003hzk.2	+	19	3256	c.3201G>T	c.(3199-3201)GCG>GCT	p.A1067A	SEC24B_uc003hzl.2_Silent_p.A1032A|SEC24B_uc011cfp.1_Silent_p.A1097A|SEC24B_uc011cfq.1_Silent_p.A1066A|SEC24B_uc011cfr.1_Silent_p.A1031A	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1067					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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CATTGATGGCGCCCAGCTCCC	0.398													T	110451569	G	T	110451569	2	4	191	1	0	0	0	0	0	0	0	1	13995	1074	38	5		5	SEC24B	4	110451569	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4294020	110451569	80702707	503	103523											
CCDC109B	55013	broad.mit.edu	37	chr4	110605647	110605647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaaaccagtggactcCtgtgggctggattggcactg	13	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:110605647C>A	uc011cfs.1	+	6	800	c.661C>A	c.(661-663)CTG>ATG	p.L221M		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	221	Helical; (Potential).					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAGTGGACTCCTGTGGGCTGG	0.493													A	110605647	C	A	110605647	3	1	191	1	0	0	0	0	1	0	0	0	2745	680	24	5	683	5	CCDC109B	4	110605647	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	154078	110605647	80548629	504	103524											
LRIT3	345193	broad.mit.edu	37	chr4	110791250	110791250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagctccaccaaggtgggAaaagaaatttaaaggtggca	11	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:110791250A>G	uc003hzx.3	+	3	1403	c.1210A>G	c.(1210-1212)AAA>GAA	p.K404E	LRIT3_uc003hzw.3_Missense_Mutation_p.K266E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	404						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCAAGGTGGGAAAAGAAATTT	0.413													G	110791250	A	G	110791250	3	3	191	1	0	0	0	0	1	0	0	0	8949	247	9	3	1220	3	LRIT3	4	110791250	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	185603	110791250	80363026	505	103525											
NEUROG2	63973	broad.mit.edu	37	chr4	113436263	113436263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgaggttgtgcatgcgGtttcgctcgcggttgttggc	17	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:113436263G>A	uc003ias.2	-	2	696	c.369C>T	c.(367-369)AAC>AAT	p.N123N		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	123	Helix-loop-helix motif.|Basic motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.N123N(1)		skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGTGCATGCGGTTTCGCTCGC	0.672													A	113436263	G	A	113436263	2	1	191	1	0	0	0	0	0	0	0	1	10353	1252	44	4		4	NEUROG2	4	113436263	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2645013	113436263	77718013	506	103526											
ARSJ	79642	broad.mit.edu	37	chr4	114823740	114823740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatgggtcggctgtgatgTtgaaaagccatacacttttg	11	7	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:114823740T>C	uc003ibq.1	-	2	2378	c.1490A>G	c.(1489-1491)AAC>AGC	p.N497S	ARSJ_uc010imu.1_Missense_Mutation_p.N497S|ARSJ_uc010imv.1_Missense_Mutation_p.N325S	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	497						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGCTGTGATGTTGAAAAGCCA	0.517													C	114823740	T	C	114823740	3	2	191	1	0	0	0	0	1	0	0	0	995	1725	60	3	313	3	ARSJ	4	114823740	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1387477	114823740	76330536	507	103527											
SYNPO2	171024	broad.mit.edu	37	chr4	119948547	119948547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagaagatccacgctcGgaaaaagatcacagcagacc	11	11	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:119948547G>A	uc003icm.3	+	3	1219	c.1023G>A	c.(1021-1023)TCG>TCA	p.S341S	SYNPO2_uc010ina.2_Silent_p.S341S|SYNPO2_uc010inb.2_Silent_p.S341S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.S269S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	341						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						ATCCACGCTCGGAAAAAGATC	0.557													A	119948547	G	A	119948547	2	1	191	1	0	0	0	0	0	0	0	1	15454	1103	39	1		1	SYNPO2	4	119948547	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5124807	119948547	71205729	508	103528											
SYNPO2	171024	broad.mit.edu	37	chr4	119951141	119951141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagaagcgacgtcggagggCcaggaaatacaccctagtta	12	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:119951141C>T	uc003icm.3	+	4	1407	c.1211C>T	c.(1210-1212)GCC>GTC	p.A404V	SYNPO2_uc010ina.2_Missense_Mutation_p.A404V|SYNPO2_uc010inb.2_Missense_Mutation_p.A404V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A332V	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	404	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CGTCGGAGGGCCAGGAAATAC	0.502													T	119951141	C	T	119951141	3	4	191	1	0	0	0	0	1	0	0	0	15454	739	26	2	1225	2	SYNPO2	4	119951141	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2594	119951141	71203135	509	103529											
BBS12	166379	broad.mit.edu	37	chr4	123663971	123663972	+	Frame_Shift_Del	DEL	TA	TA	-													ggcaactgtacaaaaccattTatgtttgacatttcaagaat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:123663970_123663971TTA>T	uc021xrm.1	+	2	1304_1305	c.923_924TTA>T	c.(922-924)tttfs	p.F308fs	BBS12_uc003ieu.3_Frame_Shift_Del_p.F308fs|BBS12_uc021xrn.1_Frame_Shift_Del_p.F308fs	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	308					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACAAAACCATTTATGTTTGACA	0.391									Bardet-Biedl syndrome				-	123663972	TA	-	123663971	7	5	191	1	0	1	0	1	0	0	0	0	1337	1751	61	0	926	0	BBS12	4	123663971	Frame_Shift_Del	DEL	TA	TCGA-CG-5723-01A-11D-1600-08	3712830	123663971	67490305	510	103530											
ANKRD50	57182	broad.mit.edu	37	chr4	125592090	125592090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctaagaggggtgtacggCcattgttatctgtgtgatct	13	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:125592090C>T	uc003ifg.3	-	3	2608	c.2342G>A	c.(2341-2343)GGC>GAC	p.G781D	ANKRD50_uc011cgo.1_Missense_Mutation_p.G602D|ANKRD50_uc010inw.2_Missense_Mutation_p.G781D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	781	ANK 10.									central_nervous_system(1)	1						GGGTGTACGGCCATTGTTATC	0.473													T	125592090	C	T	125592090	3	4	191	1	0	0	0	0	1	0	0	0	677	739	26	2	1951	2	ANKRD50	4	125592090	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1928119	125592090	65562186	511	103531											
FAT4	79633	broad.mit.edu	37	chr4	126372844	126372844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctgccaccagttattTcagtctgagcactgctggag	11	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:126372844T>C	uc003ifj.3	+	9	10673	c.10673T>C	c.(10672-10674)TTC>TCC	p.F3558S	FAT4_uc011cgp.1_Missense_Mutation_p.F1856S|FAT4_uc003ifi.1_Missense_Mutation_p.F1036S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3558	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCAGTTATTTCAGTCTGAGC	0.478													C	126372844	T	C	126372844	3	2	191	1	0	0	0	0	1	0	0	0	5692	1783	62	3	10707	3	FAT4	4	126372844	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	780754	126372844	64781432	512	103532											
FAT4	79633	broad.mit.edu	37	chr4	126389930	126389930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaccatgaagaaggtgTcagatggacattttcacact	8	10	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:126389930T>G	uc003ifj.3	+	11	12163	c.12163T>G	c.(12163-12165)TCA>GCA	p.S4055A	FAT4_uc011cgp.1_Missense_Mutation_p.S2318A|FAT4_uc003ifi.1_Missense_Mutation_p.S1533A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4055	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAAGAAGGTGTCAGATGGACA	0.388													G	126389930	T	G	126389930	3	3	191	1	0	0	0	0	1	0	0	0	5692	1667	58	5	12205	5	FAT4	4	126389930	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	17086	126389930	64764346	513	103533											
PHF17	79960	broad.mit.edu	37	chr4	129783017	129783017	+	Frame_Shift_Del	DEL	G	G	-													cccgaggagagtcttggcaaGggggctgcacaggagaatgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:129783016_129783016AG>A	uc011cgy.2	+	8	1453	c.1139_1139AG>A	c.(1138-1140)aagfs	p.K380fs	PHF17_uc003igj.3_Frame_Shift_Del_p.K380fs|PHF17_uc003igk.3_Frame_Shift_Del_p.K380fs|PHF17_uc003igl.3_Frame_Shift_Del_p.K368fs|PHF17_uc003igm.3_Frame_Shift_Del_p.K380fs	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	380					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTCTTGGCAAGGGGGCTGCA	0.577													-	129783017	G	-	129783017	7	5	191	1	0	1	0	1	0	0	0	0	11828	991	35	0	1170	0	PHF17	4	129783017	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	3393087	129783017	61371259	514	103534											
PCDH10	57575	broad.mit.edu	37	chr4	134072704	134072704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccagccggtctacgacgTgtatgtgactgaaaacaacg	11	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:134072704T>C	uc003iha.2	+	1	2235	c.1409T>C	c.(1408-1410)GTG>GCG	p.V470A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V470A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	470	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GTCTACGACGTGTATGTGACT	0.617													C	134072704	T	C	134072704	3	2	191	1	0	0	0	0	1	0	0	0	11507	1696	59	3	1411	3	PCDH10	4	134072704	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	4289687	134072704	57081572	515	103535											
SCOC	60592	broad.mit.edu	37	chr4	141264811	141264813	+	In_Frame_Del	DEL	GAG	GAG	-													agatggacgggtccaggaaaGaggaggaggaagacagcaca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:141264810_141264812AGAG>A	uc003iib.2	+	1	161_163	c.18_20AGAG>A	c.(16-21)aaagag>aaAg	p.E10del	SCOC_uc011che.1_In_Frame_Del_p.E10del|SCOC_uc003iid.2_In_Frame_Del_p.E10del|SCOC_uc011chf.1_In_Frame_Del_p.E10del|SCOC_uc011chg.1_In_Frame_Del_p.E10del|LOC100129858_uc003iic.2_Intron	NM_032547	NP_115936	Q9UIL1	SCOC_HUMAN	Homo sapiens short coiled-coil protein (SCOC), transcript variant 4, mRNA.	0						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GGTCCAGGAAAGAGGAGGAGGAA	0.424													-	141264813	GAG	-	141264811	7	5	191	1	0	1	0	1	0	0	0	0	13933	943	33	0	21	0	SCOC	4	141264811	In_Frame_Del	DEL	GAG	TCGA-CG-5723-01A-11D-1600-08	7192107	141264811	49889465	516	103536											
ELMOD2	255520	broad.mit.edu	37	chr4	141446595	141446595	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaatgtttatttctTtgtgggagttcttctatggg	9	3	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:141446595T>G	uc003iik.2	+	2	105	c.13T>G	c.(13-15)TTG>GTG	p.L5V		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	5					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)					GTTTATTTCTTTGTGGGAGTT	0.333													G	141446595	T	G	141446595	3	3	191	1	0	0	0	0	1	0	0	0	5069	1838	64	5	15	5	ELMOD2	4	141446595	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	181784	141446595	49707681	517	103537											
INPP4B	8821	broad.mit.edu	37	chr4	143324116	143324116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgagacttatccttgacaTcatagactgttagttttatt	6	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:143324116T>C	uc003iix.3	-	8	942	c.347A>G	c.(346-348)GAT>GGT	p.D116G	INPP4B_uc003iiw.3_Missense_Mutation_p.D116G|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	116	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					ATCCTTGACATCATAGACTGT	0.398													C	143324116	T	C	143324116	3	2	191	1	0	0	0	0	1	0	0	0	7753	1435	50	3	2507	3	INPP4B	4	143324116	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1877521	143324116	47830160	518	103538											
HHIP	64399	broad.mit.edu	37	chr4	145655985	145655985	+	Frame_Shift_Del	DEL	C	C	-													ctgtcgaaacggctactgcaCccccacgggaaagtgctgct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:145655984_145655984AC>A	uc003ijs.2	+	11	2532	c.1852_1852AC>A	c.(1852-1854)accfs	p.T618fs		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	618	EGF-like 1.					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)		CGGCTACTGCACCCCCACGGG	0.532													-	145655985	C	-	145655985	7	5	191	1	0	1	0	1	0	0	0	0	7092	507	18	0	1899	0	HHIP	4	145655985	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	2331869	145655985	45498291	519	103539											
POU4F2	5458	broad.mit.edu	37	chr4	147561385	147561385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtccacgccggctcacGcgccgcacatggccaccatg	12	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:147561385G>A	uc003ikv.2	+	2	903	c.655G>A	c.(655-657)GCG>ACG	p.A219T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	219					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			breast(1)	1	all_hematologic(180;0.151)					GCCGGCTCACGCGCCGCACAT	0.721													A	147561385	G	A	147561385	3	1	191	1	0	0	0	0	1	0	0	0	12279	1087	38	1	661	1	POU4F2	4	147561385	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1905400	147561385	43592891	520	103540											
LRBA	987	broad.mit.edu	37	chr4	151511917	151511917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacagagtatcatcatcGccttccaggaggatctcgtt	10	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:151511917G>A	uc010ipj.2	-	40	6648	c.6174C>T	c.(6172-6174)GGC>GGT	p.G2058G	LRBA_uc003ilt.3_Silent_p.G706G|LRBA_uc003ilu.3_Silent_p.G2047G	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2058						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TATCATCATCGCCTTCCAGGA	0.428													A	151511917	G	A	151511917	2	1	191	1	0	0	0	0	0	0	0	1	8931	1074	38	1		1	LRBA	4	151511917	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3950532	151511917	39642359	521	103541											
LRBA	987	broad.mit.edu	37	chr4	151749498	151749498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttttgaaactgaaactgAcggtgtagccttagtgtcca	10	7	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:151749498A>G	uc010ipj.2	-	30	5479	c.5005T>C	c.(5005-5007)TCA>CCA	p.S1669P	LRBA_uc003ilt.3_Missense_Mutation_p.S328P|LRBA_uc003ilu.3_Missense_Mutation_p.S1669P	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1669						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACTGAAACTGACGGTGTAGCC	0.438													G	151749498	A	G	151749498	3	3	191	1	0	0	0	0	1	0	0	0	8931	275	10	3	3702	3	LRBA	4	151749498	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	237581	151749498	39404778	522	103542											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia 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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	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								A	153249385	G	A	153249385	3	1	191	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1499887	153249385	37904891	523	103543											
SFRP2	6423	broad.mit.edu	37	chr4	154709525	154709525	+	Frame_Shift_Del	DEL	G	G	-													gaggtggtcgctgctagcgaGggggatgcaaaggtcgttgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:154709524_154709524AG>A	uc003inv.1	-	0	705	c.464_464CT>T	c.(463-465)ctcfs	p.L155fs		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	155	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GCTGCTAGCGAGGGGGATGCA	0.657													-	154709525	G	-	154709525	7	5	191	1	0	1	0	1	0	0	0	0	14162	1000	35	0	436	0	SFRP2	4	154709525	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1460140	154709525	36444751	524	103544											
DCHS2	54798	broad.mit.edu	37	chr4	155163925	155163925	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcttggacaatcaagCtggtttggaaaaagaatcaa	11	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:155163925C>T	uc003inw.2	-	22	5577	c.5577_splice	c.e22-1	p.S1859_splice		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACAATCAAGCTGGTTTGGAA	0.353													T	155163925	C	T	155163925	5	4	191	1	0	0	0	0	0	0	1	0	4288	811	28	2	3190	2	DCHS2	4	155163925	Splice_Site	SNP	C	TCGA-CG-5723-01A-11D-1600-08	454400	155163925	35990351	525	103545											
TDO2	6999	broad.mit.edu	37	chr4	156824926	156824926	+	Frame_Shift_Del	DEL	T	T	-													tcaccatgagtgggtgcccaTttttaggaaacaactttggg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:156824925_156824925AT>A	uc003ipf.1	+	0	79	c.15_15AT>A	c.(13-15)ccafs	p.P5fs		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	5					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)	GTGGGTGCCCATTTTTAGGAA	0.418													-	156824926	T	-	156824926	7	5	191	1	0	1	0	1	0	0	0	0	15724	1493	52	0	18	0	TDO2	4	156824926	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1661001	156824926	34329350	526	103546											
GRIA2	2891	broad.mit.edu	37	chr4	158284167	158284167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttataaggaaggttacaacGtatatggcatcgaaagtgtt	10	5	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:158284167G>A	uc003ipm.3	+	15	3082	c.2623G>A	c.(2623-2625)GTA>ATA	p.V875I	GRIA2_uc011cit.1_Missense_Mutation_p.V828I|GRIA2_uc003ipl.3_Missense_Mutation_p.V875I|GRIA2_uc003ipk.3_Missense_Mutation_p.V828I|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	875	Cytoplasmic (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGGTTACAACGTATATGGCAT	0.403													A	158284167	G	A	158284167	3	1	191	1	0	0	0	0	1	0	0	0	6768	1145	40	1	2800	1	GRIA2	4	158284167	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1459241	158284167	32870109	527	103547											
FNIP2	57600	broad.mit.edu	37	chr4	159782803	159782803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttaacctaccacctggCctgggtcccaactgtcatgc	10	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:159782803C>T	uc003iqe.3	+	12	1523	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	447					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TACCACCTGGCCTGGGTCCCA	0.488													T	159782803	C	T	159782803	3	4	191	1	0	0	0	0	1	0	0	0	5976	739	26	2	1386	2	FNIP2	4	159782803	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1498636	159782803	31371473	528	103548											
C4orf43	55319	broad.mit.edu	37	chr4	164428219	164428219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaaagtgcaggacgggAaaaaaaagtcatccatccat	11	7	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:164428219A>G	uc003iqq.3	+	2	319	c.38A>G	c.(37-39)GAA>GGA	p.E13G		NM_018352	NP_060822	Q96EY4	CD043_HUMAN	hypothetical protein LOC55319	13											0						GCAGGACGGGAAAAAAAAGTC	0.363													G	164428219	A	G	164428219	3	3	191	1	0	0	0	0	1	0	0	0	2271	246	9	3	44	3	C4orf43	4	164428219	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	4645416	164428219	26726057	529	103549											
SPOCK3	50859	broad.mit.edu	37	chr4	167921509	167921509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtttacctgtgtgtaAgcctccggtgactaatgcag	10	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:167921509A>C	uc003iri.1	-	5	491	c.350T>G	c.(349-351)CTT>CGT	p.L117R	SPOCK3_uc011cjp.1_Missense_Mutation_p.L114R|SPOCK3_uc011cjq.1_Missense_Mutation_p.L126R|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Missense_Mutation_p.L114R|SPOCK3_uc011cjs.1_Missense_Mutation_p.L66R|SPOCK3_uc011cjt.1_Missense_Mutation_p.L25R|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.L114R|SPOCK3_uc011cjw.1_RNA	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	117					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCTGTGTGTAAGCCTCCGGTG	0.413													C	167921509	A	C	167921509	3	2	191	1	0	0	0	0	1	0	0	0	15080	72	3	5	992	5	SPOCK3	4	167921509	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3493290	167921509	23232767	530	103550											
SH3RF1	57630	broad.mit.edu	37	chr4	170057551	170057551	+	Frame_Shift_Del	DEL	G	G	-													tgctggagctgatgaggacaGgggggctgatctccatggag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:170057550_170057550AG>A	uc003isa.1	-	4	1322	c.987_987CT>T	c.(985-987)cctfs	p.P329fs	SH3RF1_uc010irc.1_Frame_Shift_Del_p.C52fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	329						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)		TGATGAGGACAGGGGGGCTGA	0.572													-	170057551	G	-	170057551	7	5	191	1	0	1	0	1	0	0	0	0	14258	1000	35	0	1712	0	SH3RF1	4	170057551	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2136042	170057551	21096725	531	103551											
GLRA3	8001	broad.mit.edu	37	chr4	175580334	175580334	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatccaaatatcaatagcTttgacatatgaaacctagcc	5	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:175580334T>G	uc003ity.1	-	8	1445	c.942A>C	c.(940-942)AAA>AAC	p.K314N	GLRA3_uc003itz.1_Missense_Mutation_p.K314N	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	314					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			ovary(3)	3		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)	TATCAATAGCTTTGACATATG	0.353													G	175580334	T	G	175580334	3	3	191	1	0	0	0	0	1	0	0	0	6456	1606	56	5	464	5	GLRA3	4	175580334	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	5522783	175580334	15573942	532	103552											
RWDD4A	201965	broad.mit.edu	37	chr4	184577096	184577096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccttcataaatagagcGtaatgcttctagttccatct	5	10	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:184577096G>A	uc003ivt.1	-	2	269	c.43C>T	c.(43-45)CGC>TGC	p.R15C	RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Intron|RWDD4A_uc011ckl.1_Intron	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	RWD domain containing 4A	15	RWD.										0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166)		TAAATAGAGCGTAATGCTTCT	0.343													A	184577096	G	A	184577096	3	1	191	1	0	0	0	0	1	0	0	0	13758	1145	40	1	547	1	RWDD4A	4	184577096	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	8996762	184577096	6577180	533	103553											
FAM149A	25854	broad.mit.edu	37	chr4	187077204	187077204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcccggtaggaaatggcGcaaactcggacttcctcctg	11	13	1	0	rs140463493	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:187077204G>A	uc003iyt.3	+	7	1013	c.434G>A	c.(433-435)CGC>CAC	p.R145H	FAM149A_uc011cla.1_Missense_Mutation_p.R145H|FAM149A_uc010isj.2_Missense_Mutation_p.R145H|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.R145H|FAM149A_uc010isl.2_Missense_Mutation_p.R145H|FAM149A_uc011clb.1_Missense_Mutation_p.R145H	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	436										breast(1)	1		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)		AGGAAATGGCGCAAACTCGGA	0.438													A	187077204	G	A	187077204	3	1	191	1	0	0	0	0	1	0	0	0	5455	1087	38	1	448	1	FAM149A	4	187077204	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2500108	187077204	4077072	534	103554											
ZFP42	132625	broad.mit.edu	37	chr4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagccaagacctgcaggCggaaatagaacctgtcagcg	12	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:188924074C>T	uc003izg.1	+	3	358	c.113C>T	c.(112-114)GCG>GTG	p.A38V	ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	38					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		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)		GACCTGCAGGCGGAAATAGAA	0.572													T	188924074	C	T	188924074	3	4	191	1	0	0	0	0	1	0	0	0	17647	768	27	1	115	1	ZFP42	4	188924074	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1846870	188924074	2230202	535	103555											
IRX1	79192	broad.mit.edu	37	chr5	3599722	3599722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagaaggccgaggacgaCgaggagatcgacctggaaag	17	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:3599722C>T	uc003jde.2	+	2	712	c.660C>T	c.(658-660)GAC>GAT	p.D220D		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CCGAGGACGACGAGGAGATCG	0.622													T	3599722	C	T	3599722	2	4	191	1	0	0	0	0	0	0	0	1	7843	535	19	1		1	IRX1	5	3599722	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08		3599722	177315538	536	103556											
KIAA0947	23379	broad.mit.edu	37	chr5	5463182	5463182	+	Frame_Shift_Del	DEL	A	A	-													gaggaagatgattattcgttAaaaaatacaagtcagctcac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:5463181_5463181TA>T	uc003jdm.4	+	12	3956	c.3734_3734TA>T	c.(3733-3735)ttafs	p.L1245fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1245										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						GATTATTCGTTAAAAAATACA	0.383													-	5463182	A	-	5463182	7	5	191	1	0	1	0	1	0	0	0	0	8202	359	13	0	3785	0	KIAA0947	5	5463182	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1863460	5463182	175452078	537	103557											
SEMA5A	9037	broad.mit.edu	37	chr5	9044506	9044506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatggcctccaccgagtcGtacttgtccagtttgttgat	10	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:9044506G>A	uc003jek.2	-	22	3796	c.3084C>T	c.(3082-3084)TAC>TAT	p.Y1028Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	1028	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCACCGAGTCGTACTTGTCCA	0.478													A	9044506	G	A	9044506	2	1	191	1	0	0	0	0	0	0	0	1	14037	1140	40	1		1	SEMA5A	5	9044506	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3581324	9044506	171870754	538	103558											
SEMA5A	9037	broad.mit.edu	37	chr5	9108327	9108327	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccacccccgcattgggcTgtgcaccgttcccaaggacc	10	17	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:9108327T>G	uc003jek.2	-	16	2710	c.1998A>C	c.(1996-1998)ACA>ACC	p.T666T		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	666	TSP type-1 3.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CGCATTGGGCTGTGCACCGTT	0.537													G	9108327	T	G	9108327	2	3	191	1	0	0	0	0	0	0	0	1	14037	1567	55	5		5	SEMA5A	5	9108327	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	63821	9108327	171806933	539	103559											
CTNND2	1501	broad.mit.edu	37	chr5	11346489	11346489	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggtttttacccacctgggAtctttctgaatgctatcaat	7	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:11346489A>T	uc003jfa.1	-	9	1768	c.1623T>A	c.(1621-1623)GAT>GAA	p.D541E	CTNND2_uc010itt.2_Missense_Mutation_p.D450E|CTNND2_uc011cmy.1_Missense_Mutation_p.D204E|CTNND2_uc011cmz.1_Missense_Mutation_p.D108E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D108E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	541	ARM 2.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CCCACCTGGGATCTTTCTGAA	0.458													T	11346489	A	T	11346489	3	4	191	1	0	0	0	0	1	0	0	0	4020	330	12	5	2110	5	CTNND2	5	11346489	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2238162	11346489	169568771	540	103560											
MYO10	4651	broad.mit.edu	37	chr5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggaggagcccccccCttttttgtggagccagcctt	12	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:16694613C>T	uc003jft.3	-	27	4135	c.3667G>A	c.(3667-3669)GGG>AGG	p.G1223R	MYO10_uc011cnc.1_Missense_Mutation_p.G102R|MYO10_uc011cnd.1_Missense_Mutation_p.G580R|MYO10_uc011cne.1_Missense_Mutation_p.G580R|MYO10_uc010itx.2_Missense_Mutation_p.G846R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GAGCCCCCCCCTTTTTTGTGG	0.557													T	16694613	C	T	16694613	3	4	191	1	0	0	0	0	1	0	0	0	10062	681	24	4	2569	4	MYO10	5	16694613	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5348124	16694613	164220647	541	103561											
CDH18	1016	broad.mit.edu	37	chr5	19838877	19838877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaatcttacctttccaacAtactgaggatctggtcccat	5	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:19838877A>G	uc003jgc.2	-	2	596	c.219T>C	c.(217-219)TAT>TAC	p.Y73Y	CDH18_uc003jgd.2_Silent_p.Y73Y|CDH18_uc011cnm.1_Silent_p.Y73Y	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	73	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTTCCAACATACTGAGGAT	0.383													G	19838877	A	G	19838877	2	3	191	1	0	0	0	0	0	0	0	1	3103	224	8	3		3	CDH18	5	19838877	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3144264	19838877	161076383	542	103562											
RNASEN	29102	broad.mit.edu	37	chr5	31449476	31449476	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataatgaattcctggcatgAtcaggattcattccaaaatt	7	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:31449476A>G	uc003jhg.2	-	21	3092	c.2733T>C	c.(2731-2733)GAT>GAC	p.D911D	RNASEN_uc003jhh.2_Silent_p.D874D|RNASEN_uc003jhi.2_Silent_p.D874D	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	911	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TCCTGGCATGATCAGGATTCA	0.363													G	31449476	A	G	31449476	2	3	191	1	0	0	0	0	0	0	0	1	13417	330	12	3		3	RNASEN	5	31449476	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	11610599	31449476	149465784	543	103563											
PDZD2	23037	broad.mit.edu	37	chr5	32090071	32090071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactggcgtcctcctcctccTcccttcaaacagccattaga	5	17	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:32090071T>C	uc003jhl.2	+	20	6905	c.6517T>C	c.(6517-6519)TCC>CCC	p.S2173P	PDZD2_uc003jhm.2_Missense_Mutation_p.S2173P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCCTCCTCCTCCCTTCAAAC	0.542													C	32090071	T	C	32090071	3	2	191	1	0	0	0	0	1	0	0	0	11701	1551	54	3	6591	3	PDZD2	5	32090071	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	640595	32090071	148825189	544	103564											
PDZD2	23037	broad.mit.edu	37	chr5	32097388	32097390	+	In_Frame_Del	DEL	GAA	GAA	-													ttgtttgttttcactagaatGaagaagatgtttgcttcata							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:32097387_32097389TGAA>T	uc003jhl.3	+	21	8236_8238	c.7848_7850TGAA>T	c.(7846-7851)aatgaa>aaTa	p.E2618del	PDZD2_uc003jhm.3_In_Frame_Del_p.E2618del|PDZD2_uc003jhn.3_5'Flank	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2618					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						TTCACTAGAATGAAGAAGATGTT	0.404													-	32097390	GAA	-	32097388	7	5	191	1	0	1	0	1	0	0	0	0	11701	1291	45	0	7931	0	PDZD2	5	32097388	In_Frame_Del	DEL	GAA	TCGA-CG-5723-01A-11D-1600-08	7317	32097388	148817872	545	103565											
NPR3	4883	broad.mit.edu	37	chr5	32712294	32712294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggccagtgtgcgagTatgcagcagcgccagtggcc	16	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:32712294T>C	uc003jhv.2	+	1	630	c.412T>C	c.(412-414)TAT>CAT	p.Y138H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.Y138H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	138	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AGTGTGCGAGTATGCAGCAGC	0.672													C	32712294	T	C	32712294	3	2	191	1	0	0	0	0	1	0	0	0	10596	1638	57	3	414	3	NPR3	5	32712294	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	614906	32712294	148202966	546	103566											
RAI14	26064	broad.mit.edu	37	chr5	34823324	34823324	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacagctacaggtcgaactCcaatcccgaagggcagaact	9	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:34823324C>T	uc003jir.2	+	15	1573	c.1377C>T	c.(1375-1377)CTC>CTT	p.L459L	RAI14_uc010iur.2_Silent_p.L430L|RAI14_uc011coj.1_Silent_p.L459L|RAI14_uc003jis.2_Silent_p.L462L|RAI14_uc003jit.2_Silent_p.L459L|RAI14_uc011cok.1_Silent_p.L451L	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	459	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AGGTCGAACTCCAATCCCGAA	0.428													T	34823324	C	T	34823324	2	4	191	1	0	0	0	0	0	0	0	1	13008	842	30	4		4	RAI14	5	34823324	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2111030	34823324	146091936	547	103567											
SPEF2	79925	broad.mit.edu	37	chr5	35691158	35691158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatggttggagagtgggCcttaccagaagaaatggttg	15	5	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:35691158C>T	uc003jjo.2	+	11	1655	c.1544C>T	c.(1543-1545)GCC>GTC	p.A515V	SPEF2_uc003jjq.3_Missense_Mutation_p.A515V|SPEF2_uc003jjp.1_Missense_Mutation_p.A6V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	515					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGAGTGGGCCTTACCAGAA	0.363													T	35691158	C	T	35691158	3	4	191	1	0	0	0	0	1	0	0	0	15034	739	26	2	1607	2	SPEF2	5	35691158	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	867834	35691158	145224102	548	103568											
NIPBL	25836	broad.mit.edu	37	chr5	37017251	37017251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcaaggatctatagaacGcattttaaaacaggtactaa	8	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:37017251G>A	uc003jkl.3	+	24	5406	c.4907G>A	c.(4906-4908)CGC>CAC	p.R1636H	NIPBL_uc003jkk.3_Missense_Mutation_p.R1636H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1636					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			TCTATAGAACGCATTTTAAAA	0.328													A	37017251	G	A	37017251	3	1	191	1	0	0	0	0	1	0	0	0	10428	1087	38	1	4997	1	NIPBL	5	37017251	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1326093	37017251	143898009	549	103569											
GDNF	2668	broad.mit.edu	37	chr5	37815784	37815784	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccttttagcggaatgcTttcttagaatatggtaaacc	7	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:37815784T>G	uc011cpi.1	-	3	805	c.605A>C	c.(604-606)AAG>ACG	p.K202T	GDNF_uc011cpc.1_Missense_Mutation_p.K124T|GDNF_uc011cpd.1_Missense_Mutation_p.K150T|GDNF_uc011cpe.1_Missense_Mutation_p.K176T|GDNF_uc011cpf.1_Missense_Mutation_p.K176T|GDNF_uc011cpg.1_Missense_Mutation_p.K219T|GDNF_uc011cph.1_Missense_Mutation_p.K193T	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	202					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					AGCGGAATGCTTTCTTAGAAT	0.473													G	37815784	T	G	37815784	3	3	191	1	0	0	0	0	1	0	0	0	6322	1609	56	5	33	5	GDNF	5	37815784	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	798533	37815784	143099476	550	103570											
RICTOR	253260	broad.mit.edu	37	chr5	38947433	38947433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgaacccccatatgtgGcactggacaccatggaccgc	9	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:38947433G>A	uc003jlp.2	-	32	4271	c.4247C>T	c.(4246-4248)GCC>GTC	p.A1416V	RICTOR_uc003jlo.2_Missense_Mutation_p.A1440V|RICTOR_uc010ivf.2_Missense_Mutation_p.A1131V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1416					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			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					CCCATATGTGGCACTGGACAC	0.383													A	38947433	G	A	38947433	3	1	191	1	0	0	0	0	1	0	0	0	13358	1203	42	2	907	2	RICTOR	5	38947433	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1131649	38947433	141967827	551	103571											
CARD6	84674	broad.mit.edu	37	chr5	40852450	40852450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaagcacgagatgtgaCcgctagggattcaatcctca	10	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:40852450C>T	uc003jmg.2	+	3	1091	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	339					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						CGAGATGTGACCGCTAGGGAT	0.458													T	40852450	C	T	40852450	3	4	191	1	0	0	0	0	1	0	0	0	2650	507	18	4	1026	4	CARD6	5	40852450	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1905017	40852450	140062810	552	103572											
OXCT1	5019	broad.mit.edu	37	chr5	41862805	41862805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctactggatctgtataAaacttggtatggcgatgagc	11	7	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:41862805A>G	uc003jmn.2	-	2	457	c.126T>C	c.(124-126)TTT>TTC	p.F42F		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	42					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	GATCTGTATAAAACTTGGTAT	0.373													G	41862805	A	G	41862805	2	3	191	1	0	0	0	0	0	0	0	1	11329	11	1	3		3	OXCT1	5	41862805	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1010355	41862805	139052455	553	103573											
ZNF131	7690	broad.mit.edu	37	chr5	43161497	43161497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaattgaggtagagattgCcgaaggcaccattgaagtgg	14	5	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:43161497C>T	uc011cpw.1	+	5	554	c.518C>T	c.(517-519)GCC>GTC	p.A173V	ZNF131_uc010ivl.1_Missense_Mutation_p.A173V|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.A173V|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTAGAGATTGCCGAAGGCACC	0.433													T	43161497	C	T	43161497	3	4	191	1	0	0	0	0	1	0	0	0	17718	739	26	2	532	2	ZNF131	5	43161497	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1298692	43161497	137753763	554	103574											
ITGA1	3672	broad.mit.edu	37	chr5	52177731	52177731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtacagtatggagaaaaCgtgacccatgagttcaacct	9	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:52177731C>T	uc003jou.2	+	7	703	c.651C>T	c.(649-651)AAC>AAT	p.N217N	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	217	Extracellular (Potential).|VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGGAGAAAACGTGACCCATG	0.428													T	52177731	C	T	52177731	2	4	191	1	0	0	0	0	0	0	0	1	7872	535	19	1		1	ITGA1	5	52177731	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	9016234	52177731	128737529	555	103575											
ITGA2	3673	broad.mit.edu	37	chr5	52377476	52377478	+	In_Frame_Del	DEL	TCT	TCT	-													cactgaaaataggacaaacaTcttcttctgtatctttcaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:52377475_52377477ATCT>A	uc003joy.3	+	25	3236_3238	c.3093_3095ATCT>A	c.(3091-3096)acatct>acAt	p.S1034del	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_In_Frame_Del_p.S958del|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	1034					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)				TAGGACAAACATCTTCTTCTGTA	0.379													-	52377478	TCT	-	52377476	7	5	191	1	0	1	0	1	0	0	0	0	7875	1435	50	0	3196	0	ITGA2	5	52377476	In_Frame_Del	DEL	TCT	TCGA-CG-5723-01A-11D-1600-08	199745	52377476	128537784	556	103576											
BDP1	55814	broad.mit.edu	37	chr5	70806878	70806878	+	Frame_Shift_Del	DEL	A	A	-													aacagacatttctccaagggAaaacgagctagaggagacca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:70806877_70806877GA>G	uc003kbp.1	+	16	4221	c.3958_3958GA>G	c.(3958-3960)gaafs	p.E1320fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.E1320fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.E1320fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1320	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)		TTCTCCAAGGGAAAACGAGCT	0.408													-	70806878	A	-	70806878	7	5	191	1	0	1	0	1	0	0	0	0	1395	246	9	0	4025	0	BDP1	5	70806878	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	18429402	70806878	110108382	557	103577											
MCCC2	64087	broad.mit.edu	37	chr5	70942086	70942086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaatattcctctgctgTtccttcaaaacattactggt	5	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:70942086T>C	uc003kbs.3	+	13	1336	c.1198T>C	c.(1198-1200)TTC>CTC	p.F400L	MCCC2_uc003kbt.3_RNA	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	400	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		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)	TCCTCTGCTGTTCCTTCAAAA	0.289													C	70942086	T	C	70942086	3	2	191	1	0	0	0	0	1	0	0	0	9375	1725	60	3	1248	3	MCCC2	5	70942086	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	135208	70942086	109973174	558	103578											
MRPS27	23107	broad.mit.edu	37	chr5	71533950	71533950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagcagttggggctgtgtCgaaacctaaataagcacaag	11	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:71533950C>T	uc003kbz.3	-	5	323	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	MRPS27_uc003kca.3_Missense_Mutation_p.R40Q|MRPS27_uc011cse.1_Missense_Mutation_p.R110Q|MRPS27_uc010iza.2_Missense_Mutation_p.R40Q|MRPS27_uc010iyz.1_RNA	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	96						mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GGGGCTGTGTCGAAACCTAAA	0.408													T	71533950	C	T	71533950	3	4	191	1	0	0	0	0	1	0	0	0	9838	884	31	1	985	1	MRPS27	5	71533950	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	591864	71533950	109381310	559	103579											
ZNF366	167465	broad.mit.edu	37	chr5	71739855	71739855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccagcacctcgggggCgtgctccgacttggtggaca	13	14	0	0	rs112462947	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:71739855C>T	uc003kce.1	-	5	2149	c.1963G>A	c.(1963-1965)GCC>ACC	p.A655T		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGGGGGCGTGCTCCGAC	0.642													T	71739855	C	T	71739855	3	4	191	1	0	0	0	0	1	0	0	0	17867	768	27	1	275	1	ZNF366	5	71739855	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	205905	71739855	109175405	560	103580											
OTP	23440	broad.mit.edu	37	chr5	76932754	76932754	+	Frame_Shift_Del	DEL	G	G	-													tccaactcgttgagctgtgcGggggtgaagcgcgtccggtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:76932753_76932753CG>C	uc003kfg.3	-	1	488	c.340_340CG>G	c.(340-342)gcafs	p.A114fs		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TTGAGCTGTGCGGGGGTGAAG	0.667													-	76932754	G	-	76932754	7	5	191	1	0	1	0	1	0	0	0	0	11310	1103	39	0	646	0	OTP	5	76932754	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	5192899	76932754	103982506	561	103581											
VCAN	1462	broad.mit.edu	37	chr5	82815203	82815203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgatttgagtatcctcGcagaaactgcatcacccagt	7	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:82815203G>A	uc003kii.3	+	7	1434	c.1078G>A	c.(1078-1080)GCA>ACA	p.A360T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A360T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	360	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GAGTATCCTCGCAGAAACTGC	0.368													A	82815203	G	A	82815203	3	1	191	1	0	0	0	0	1	0	0	0	17135	1087	38	1	1100	1	VCAN	5	82815203	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5882449	82815203	98100057	562	103582											
COX7C	1350	broad.mit.edu	37	chr5	85913901	85913901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcatccggaggttcaCaacctctgtggtccgtagga	12	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:85913901C>T	uc003kir.2	+	1	118	c.29C>T	c.(28-30)ACA>ATA	p.T10I		NM_001867	NP_001858	P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc precursor	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		CGGAGGTTCACAACCTCTGTG	0.597													T	85913901	C	T	85913901	3	4	191	1	0	0	0	0	1	0	0	0	3784	478	17	4	31	4	COX7C	5	85913901	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3098698	85913901	95001359	563	103583											
ELL2	22936	broad.mit.edu	37	chr5	95234467	95234467	+	Frame_Shift_Del	DEL	T	T	-													gtcaggtgagatattcgggcTtttttattcattaaaggatc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:95234466_95234466CT>C	uc003klr.4	-	7	1353	c.1003_1003AG>G	c.(1003-1005)gccfs	p.A335fs		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	335					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)		GATATTCGGGCTTTTTTATTC	0.433													-	95234467	T	-	95234467	7	5	191	1	0	1	0	1	0	0	0	0	5063	1606	56	0	940	0	ELL2	5	95234467	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	9320566	95234467	85680793	564	103584											
PCSK1	5122	broad.mit.edu	37	chr5	95748029	95748029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagcatcttacctgtttgAcaccatattcaaaagccttc	4	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:95748029A>G	uc003kls.1	-	7	1081	c.875T>C	c.(874-876)GTC>GCC	p.V292A	PCSK1_uc010jbi.1_Missense_Mutation_p.V53A	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	292	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			ovary(2)	2		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)	TACCTGTTTGACACCATATTC	0.463													G	95748029	A	G	95748029	3	3	191	1	0	0	0	0	1	0	0	0	11600	275	10	3	1418	3	PCSK1	5	95748029	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	513562	95748029	85167231	565	103585											
LNPEP	4012	broad.mit.edu	37	chr5	96363452	96363452	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggttccctctggggtcCtataccatacaaaatattgt	7	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:96363452C>A	uc003kmv.1	+	17	3394	c.2880C>A	c.(2878-2880)TCC>TCA	p.S960S	LNPEP_uc003kmw.1_Silent_p.S946S	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	960	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		CTCTGGGGTCCTATACCATAC	0.383													A	96363452	C	A	96363452	2	1	191	1	0	0	0	0	0	0	0	1	8864	668	24	5		5	LNPEP	5	96363452	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	615423	96363452	84551808	566	103586											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222206	100222206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaatgtttagtgtccggCgcctgtcaagcacatagtgt	12	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:100222206C>T	uc003knk.2	-	3	672	c.344G>A	c.(343-345)CGC>CAC	p.R115H	ST8SIA4_uc003knl.2_Missense_Mutation_p.R115H	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	115	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAGTGTCCGGCGCCTGTCAAG	0.433													T	100222206	C	T	100222206	3	4	191	1	0	0	0	0	1	0	0	0	15233	768	27	1	751	1	ST8SIA4	5	100222206	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3858754	100222206	80693054	567	103587											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						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)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	191	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1533522	101755728	79159532	568	103588											
GIN1	54826	broad.mit.edu	37	chr5	102444277	102444277	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaacattaattttacctttGaagacaaatttttttgctgc	5	6	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:102444277G>A	uc003koa.1	-	2	217	c.135C>T	c.(133-135)TTC>TTT	p.F45F	GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Silent_p.F45F	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	45					DNA integration		DNA binding			ovary(1)|skin(1)	2		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)		TTTTACCTTTGAAGACAAATT	0.338													A	102444277	G	A	102444277	2	1	191	1	0	0	0	0	0	0	0	1	6386	1281	45	4		4	GIN1	5	102444277	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	688549	102444277	78470983	569	103589											
NUDT12	83594	broad.mit.edu	37	chr5	102895013	102895013	+	Frame_Shift_Del	DEL	A	A	-													cggtccagtagtgttttgctAaaataattttcacattcttc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:102895012_102895012TA>T	uc003koi.3	-	2	457	c.364_364TA>A	c.(364-366)agcfs	p.S122fs	NUDT12_uc011cvb.2_Frame_Shift_Del_p.S104fs	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	122						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			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)		AGTGTTTTGCTAAAATAATTT	0.378													-	102895013	A	-	102895013	7	5	191	1	0	1	0	1	0	0	0	0	10728	359	13	0	1045	0	NUDT12	5	102895013	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	450736	102895013	78020247	570	103590											
PJA2	9867	broad.mit.edu	37	chr5	108672997	108672997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaggctcagaggaaggagCtgcagatgcttcaataaccg	12	9	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:108672997C>A	uc003kos.3	-	10	2282	c.2062G>T	c.(2062-2064)GCT>TCT	p.A688S		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	688	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				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			ovary(1)|skin(1)	2		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)		GAGGAAGGAGCTGCAGATGCT	0.473													A	108672997	C	A	108672997	3	1	191	1	0	0	0	0	1	0	0	0	11962	797	28	5	68	5	PJA2	5	108672997	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5777984	108672997	72242263	571	103591											
APC	324	broad.mit.edu	37	chr5	112177864	112177864	+	Frame_Shift_Del	DEL	A	A	-													agtaaaggaatcaaaggaggAaaaaaagtttataaaagttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:112177863_112177863GA>G	uc003kpz.4	+	16	6765	c.6572_6572GA>G	c.(6571-6573)ggafs	p.G2191fs	APC_uc011cvt.2_Frame_Shift_Del_p.G2173fs|APC_uc003kpy.4_Frame_Shift_Del_p.G2191fs|APC_uc010jbz.3_Frame_Shift_Del_p.G1908fs|APC_uc010jca.3_Frame_Shift_Del_p.G1491fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2191	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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)		ATCAAAGGAGGAAAAAAAGTT	0.348		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)			-	112177864	A	-	112177864	7	5	191	1	0	1	0	1	0	0	0	0	763	233	9	0	6631	0	APC	5	112177864	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	3504867	112177864	68737396	572	103592											
DCP2	167227	broad.mit.edu	37	chr5	112328441	112328441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagtaaataaagaagaaGctcctcatgattgtgctgct	9	6	1	3	rs149992344	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:112328441G>A	uc003kqh.2	+	4	604	c.406G>A	c.(406-408)GCT>ACT	p.A136T	DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.A42T	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	136	Nudix box.|Nudix hydrolase.				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|protein binding|RNA binding				0		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)		TAAAGAAGAAGCTCCTCATGA	0.358													A	112328441	G	A	112328441	3	1	191	1	0	0	0	0	1	0	0	0	4300	971	34	2	420	2	DCP2	5	112328441	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	150577	112328441	68586819	573	103593											
AQPEP	206338	broad.mit.edu	37	chr5	115361762	115361762	+	Frame_Shift_Del	DEL	A	A	-													caataaagaatgaaaatctgAaaaacaagaagctaagtgcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:115361761_115361761GA>G	uc003kro.3	+	19	3083	c.2919_2919GA>G	c.(2917-2919)ctgfs	p.L973fs	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	973					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATGAAAATCTGAAAAACAAGA	0.418													-	115361762	A	-	115361762	7	5	191	1	0	1	0	1	0	0	0	0	834	247	9	0	2998	0	AQPEP	5	115361762	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	3033321	115361762	65553498	574	103594											
SEMA6A	57556	broad.mit.edu	37	chr5	115840539	115840539	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagaccatgggtacttAcagttgccatgcgaaatact	11	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:115840539A>G	uc010jck.2	-	2	809	c.100_splice	c.e2+1	p.Y34_splice	SEMA6A_uc003krx.3_Splice_Site_p.Y34_splice	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and						apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		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)		ATGGGTACTTACAGTTGCCAT	0.423													G	115840539	A	G	115840539	5	3	191	1	0	0	0	0	0	0	1	0	14039	405	14	3	3062	3	SEMA6A	5	115840539	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	478777	115840539	65074721	575	103595											
SNCAIP	9627	broad.mit.edu	37	chr5	121780285	121780285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatatggagcaaatgtcAccatgcagaaccacgctggg	11	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:121780285A>G	uc003ksw.1	+	8	1656	c.1450A>G	c.(1450-1452)ACC>GCC	p.T484A	SNCAIP_uc011cwl.1_Missense_Mutation_p.T42A|SNCAIP_uc003ksx.1_Missense_Mutation_p.T531A|SNCAIP_uc003ksy.1_Missense_Mutation_p.T118A|SNCAIP_uc003ksz.1_Missense_Mutation_p.T118A|SNCAIP_uc010jcu.2_Missense_Mutation_p.T80A|SNCAIP_uc011cwm.1_Missense_Mutation_p.T118A|SNCAIP_uc003kta.1_Missense_Mutation_p.T116A|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.T178A|SNCAIP_uc010jcx.1_Missense_Mutation_p.T424A|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_5'UTR	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	484	ANK 4.				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			ovary(1)|pancreas(1)	2		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)		AGCAAATGTCACCATGCAGAA	0.507													G	121780285	A	G	121780285	3	3	191	1	0	0	0	0	1	0	0	0	14841	159	6	3	1476	3	SNCAIP	5	121780285	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	5939746	121780285	59134975	576	103596											
MEGF10	84466	broad.mit.edu	37	chr5	126769111	126769111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccccaactgctccctgCcctgctactgtaaaaatggg	11	14	0	0	rs148212621		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:126769111C>T	uc003kuh.3	+	15	2112	c.1750C>T	c.(1750-1752)CCC>TCC	p.P584S	MEGF10_uc003kui.3_Missense_Mutation_p.P584S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	584	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		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)		CTGCTCCCTGCCCTGCTACTG	0.577													T	126769111	C	T	126769111	3	4	191	1	0	0	0	0	1	0	0	0	9460	739	26	2	1800	2	MEGF10	5	126769111	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4988826	126769111	54146149	577	103597											
CHSY3	337876	broad.mit.edu	37	chr5	129243787	129243787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggtgataaattagaagagTttcttagatcgctaaacagc	9	5	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:129243787T>C	uc003kvd.2	+	2	820	c.820T>C	c.(820-822)TTT>CTT	p.F274L		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	274	Lumenal (Potential).					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			ovary(2)|pancreas(1)	3		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)		ATTAGAAGAGTTTCTTAGATC	0.413													C	129243787	T	C	129243787	3	2	191	1	0	0	0	0	1	0	0	0	3413	1725	60	3	826	3	CHSY3	5	129243787	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2474676	129243787	51671473	578	103598											
RAPGEF6	51735	broad.mit.edu	37	chr5	130840422	130840422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactttatgggtattttttTccacatggtttaaaattctc	5	7	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:130840422T>C	uc003kvn.1	-	11	1357	c.1151A>G	c.(1150-1152)GAA>GGA	p.E384G	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E434G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E384G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E384G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E384G|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E101G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E384G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E384G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	384	cNMP.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGTATTTTTTTCCACATGGTT	0.398													C	130840422	T	C	130840422	3	2	191	1	0	0	0	0	1	0	0	0	13048	1783	62	3	4212	3	RAPGEF6	5	130840422	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1596635	130840422	50074838	579	103599											
TCF7	6932	broad.mit.edu	37	chr5	133478536	133478538	+	In_Frame_Del	DEL	AAG	AAG	-													tcattgcagagtgcacacttAaggagagcgctgccatcaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:133478535_133478537TAAG>T	uc003kyt.3	+	6	1075_1077	c.879_881TAAG>T	c.(877-882)cttaag>ctTg	p.K294del	TCF7_uc003kyv.3_In_Frame_Del_p.K179del|TCF7_uc003kyw.3_In_Frame_Del_p.K179del|TCF7_uc003kyu.2_In_Frame_Del_p.K179del|TCF7_uc003kyy.3_In_Frame_Del_p.K179del|TCF7_uc003kyx.3_In_Frame_Del_p.K92del|TCF7_uc003kyz.3_In_Frame_Del_p.K179del|TCF7_uc003kza.3_In_Frame_Del_p.K179del|TCF7_uc003kzb.3_In_Frame_Del_p.K108del|TCF7_uc010jdu.3_5'Flank	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	294					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	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)			AGTGCACACTTAAGGAGAGCGCT	0.581													-	133478538	AAG	-	133478536	7	5	191	1	0	1	0	1	0	0	0	0	15693	363	13	0	906	0	TCF7	5	133478536	In_Frame_Del	DEL	AAG	TCGA-CG-5723-01A-11D-1600-08	2638114	133478536	47436724	580	103600											
CDKL3	51265	broad.mit.edu	37	chr5	133695646	133695646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagaggtattttctaagtCgcttactctctagtccatga	9	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:133695646C>T	uc003kzf.3	-	3	421	c.302G>A	c.(301-303)CGA>CAA	p.R101Q	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_5'UTR|CDKL3_uc003kzg.3_Missense_Mutation_p.R101Q|CDKL3_uc011cxr.1_Missense_Mutation_p.R101Q	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	101	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTCTAAGTCGCTTACTCTC	0.323													T	133695646	C	T	133695646	3	4	191	1	0	0	0	0	1	0	0	0	3155	884	31	1	1524	1	CDKL3	5	133695646	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	217110	133695646	47219614	581	103601											
SPOCK1	6695	broad.mit.edu	37	chr5	136834163	136834163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttggggcccgcgcctcCggcgagcgcgtccaggtgcc	18	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:136834163C>T	uc003lbo.2	-	1	276	c.85G>A	c.(85-87)GGA>AGA	p.G29R	SPOCK1_uc003lbp.2_Missense_Mutation_p.G29R	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	29					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCGCGCCTCCGGCGAGCGCG	0.687													T	136834163	C	T	136834163	3	4	191	1	0	0	0	0	1	0	0	0	15078	661	23	1	1274	1	SPOCK1	5	136834163	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3138517	136834163	44081097	582	103602											
FAM53C	51307	broad.mit.edu	37	chr5	137682483	137682483	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcctgtagccccccaccCctctctgcttcctgcagccc	7	21	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:137682483C>A	uc003lcv.2	+	5	1484	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	FAM53C_uc003lcw.2_Silent_p.P338P|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	338										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCCCCACCCCTCTCTGCTT	0.612													A	137682483	C	A	137682483	2	1	191	1	0	0	0	0	0	0	0	1	5581	610	22	5		5	FAM53C	5	137682483	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	848320	137682483	43232777	583	103603											
KDM3B	51780	broad.mit.edu	37	chr5	137756625	137756625	+	Frame_Shift_Del	DEL	C	C	-													tggacacaggcataccctttCccccggtcttctctacatcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:137756624_137756624TC>T	uc003lcy.1	+	14	4145	c.3945_3945TC>T	c.(3943-3945)tttfs	p.F1315fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.F971fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.F347fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1315					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						GCATACCCTTTCCCCCGGTCT	0.507													-	137756625	C	-	137756625	7	5	191	1	0	1	0	1	0	0	0	0	8127	855	30	0	4004	0	KDM3B	5	137756625	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	74142	137756625	43158635	584	103604											
EGR1	1958	broad.mit.edu	37	chr5	137803132	137803132	+	Frame_Shift_Del	DEL	C	C	-													ccaaccggcccagcaagacgCccccccacgaacgcccttac					rs148475837		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:137803131_137803131GC>G	uc003ldb.1	+	1	1263	c.993_993GC>G	c.(991-993)acgfs	p.T331fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					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)			CCAGCAAGACGCCCCCCCACG	0.652													-	137803132	C	-	137803132	7	5	191	1	0	1	0	1	0	0	0	0	4971	739	26	0	1000	0	EGR1	5	137803132	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	46507	137803132	43112128	585	103605											
CTNNA1	1495	broad.mit.edu	37	chr5	138253516	138253516	+	Frame_Shift_Del	DEL	A	A	-													tctttttaaagaacaatgggAaaaacaagtccgtgttctca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:138253515_138253515GA>G	uc003ldh.3	+	10	1569	c.1474_1474GA>G	c.(1474-1476)gaafs	p.E492fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.E389fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.E369fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.E190fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.E492fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.E122fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	492					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)			AGAACAATGGGAAAAACAAGT	0.413													-	138253516	A	-	138253516	7	5	191	1	0	1	0	1	0	0	0	0	4012	246	9	0	1513	0	CTNNA1	5	138253516	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	450384	138253516	42661744	586	103606											
CTNNA1	1495	broad.mit.edu	37	chr5	138260955	138260955	+	Frame_Shift_Del	DEL	T	T	-													ttctccacagtcatgccacgTtttactgagcaagtagaagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:138260954_138260954GT>G	uc003ldh.3	+	12	1852	c.1757_1757GT>G	c.(1756-1758)cgtfs	p.R586fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.R483fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.R463fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.R284fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.R586fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.R216fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	586					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)			GTCATGCCACGTTTTACTGAG	0.542													-	138260955	T	-	138260955	7	5	191	1	0	1	0	1	0	0	0	0	4012	1712	60	0	1804	0	CTNNA1	5	138260955	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	7439	138260955	42654305	587	103607											
MATR3	9782	broad.mit.edu	37	chr5	138643309	138643309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattgaatcaacaaggaGctcatagtgcactgtcttct	7	10	5	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:138643309G>A	uc003ldu.2	+	5	632	c.205G>A	c.(205-207)GCT>ACT	p.A69T	MATR3_uc003lds.2_Missense_Mutation_p.A69T|MATR3_uc010jfb.2_Missense_Mutation_p.A69T|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.A69T|MATR3_uc003ldx.2_Missense_Mutation_p.A69T|MATR3_uc010jfc.2_Missense_Mutation_p.A69T|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.A69T|MATR3_uc003lea.2_Missense_Mutation_p.A69T	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	69						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCAACAAGGAGCTCATAGTGC	0.413													A	138643309	G	A	138643309	3	1	191	1	0	0	0	0	1	0	0	0	9337	971	34	2	207	2	MATR3	5	138643309	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	382354	138643309	42271951	588	103608											
NRG2	9542	broad.mit.edu	37	chr5	139235336	139235336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcccgtgatggtcaggAccctcttctggtacagctcc	11	13	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:139235336A>G	uc003lex.1	-	6	1442	c.1217T>C	c.(1216-1218)GTC>GCC	p.V406A	NRG2_uc003lev.1_Missense_Mutation_p.V414A|NRG2_uc003lew.1_Missense_Mutation_p.V408A|NRG2_uc003ley.1_Missense_Mutation_p.V400A	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	406	Helical; Note=Internal signal sequence; (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTCAGGACCCTCTTCTG	0.597													G	139235336	A	G	139235336	3	3	191	1	0	0	0	0	1	0	0	0	10648	275	10	3	1355	3	NRG2	5	139235336	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	592027	139235336	41679924	589	103609											
PCDHA1	56147	broad.mit.edu	37	chr5	140167303	140167303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctgccacatcttcacGgtgtctgcgcgggacgcgga	15	14	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140167303G>A	uc003lhb.2	+	1	1428	c.1428G>A	c.(1426-1428)ACG>ACA	p.T476T	PCDHA1_uc003lha.2_Silent_p.T476T|PCDHA1_uc003lgz.2_Silent_p.T476T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	476	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.652													A	140167303	G	A	140167303	2	1	191	1	0	0	0	0	0	0	0	1	11519	1103	39	1		1	PCDHA1	5	140167303	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	931967	140167303	40747957	590	103610											
PCDHA1	56147	broad.mit.edu	37	chr5	140167617	140167617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagtcagtgagctggTgccgcgattggtgggtgcgg	20	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140167617T>C	uc003lhb.2	+	1	1742	c.1742T>C	c.(1741-1743)GTG>GCG	p.V581A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.V581A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	581	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAGCTGGTGCCGCGATTG	0.652													C	140167617	T	C	140167617	3	2	191	1	0	0	0	0	1	0	0	0	11519	1696	59	3	1744	3	PCDHA1	5	140167617	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	314	140167617	40747643	591	103611											
PCDHA2	56146	broad.mit.edu	37	chr5	140175140	140175140	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttgtctctcgtgctgggGaaatcgctggacagagagga	14	8	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140175140G>A	uc003lhd.2	+	1	697	c.591G>A	c.(589-591)GGG>GGA	p.G197G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.G197G|PCDHA2_uc011czy.1_Silent_p.G197G	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	197	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGGGAAATCGCTGG	0.453													A	140175140	G	A	140175140	2	1	191	1	0	0	0	0	0	0	0	1	11524	1161	41	4		4	PCDHA2	5	140175140	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7523	140175140	40740120	592	103612											
PCDHA2	56146	broad.mit.edu	37	chr5	140175673	140175673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattgctctcatcacggtgtCggatcgcgactctggtacga	11	12	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140175673C>T	uc003lhd.2	+	1	1230	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S375L|PCDHA2_uc011czy.1_Missense_Mutation_p.S375L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	375	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACGGTGTCGGATCGCGAC	0.517													T	140175673	C	T	140175673	3	4	191	1	0	0	0	0	1	0	0	0	11524	893	31	1	1126	1	PCDHA2	5	140175673	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	533	140175673	40739587	593	103613											
PCDHA4	56144	broad.mit.edu	37	chr5	140188759	140188759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgcgctgacggccacgGccactgtgctggtgtcactt	13	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140188759G>A	uc003lhi.2	+	1	2088	c.1987G>A	c.(1987-1989)GCC>ACC	p.A663T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A663T|PCDHA4_uc011daa.1_Missense_Mutation_p.A663T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	663	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGCCACGGCCACTGTGCT	0.672													A	140188759	G	A	140188759	3	1	191	1	0	0	0	0	1	0	0	0	11526	1203	42	2	1989	2	PCDHA4	5	140188759	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	13086	140188759	40726501	594	103614											
PCDHA5	56143	broad.mit.edu	37	chr5	140203164	140203164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaccctgattcgggcTacaacgcttggctttcgtat	11	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140203164T>C	uc003lhl.2	+	1	1804	c.1804T>C	c.(1804-1806)TAC>CAC	p.Y602H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.Y602H|PCDHA5_uc003lhj.1_Missense_Mutation_p.Y602H	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	602	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATTCGGGCTACAACGCTTG	0.672													C	140203164	T	C	140203164	3	2	191	1	0	0	0	0	1	0	0	0	11527	1522	53	3	1806	3	PCDHA5	5	140203164	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	14405	140203164	40712096	595	103615											
PCDHA6	56142	broad.mit.edu	37	chr5	140209139	140209139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggacgcgcaggagaacgCgctggtgtcctactcgctgg	16	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140209139C>T	uc003lho.2	+	1	1490	c.1463C>T	c.(1462-1464)GCG>GTG	p.A488V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.A488V|PCDHA6_uc011dab.1_Missense_Mutation_p.A488V	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGAACGCGCTGGTGTCC	0.662													T	140209139	C	T	140209139	3	4	191	1	0	0	0	0	1	0	0	0	11528	768	27	1	1465	1	PCDHA6	5	140209139	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5975	140209139	40706121	596	103616											
PCDHA9	9752	broad.mit.edu	37	chr5	140229360	140229360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgagctggtggttaccgCgcgggacgggggctcgcctt	17	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140229360C>T	uc003lhu.2	+	1	2004	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A427V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTTACCGCGCGGGACGGG	0.632													T	140229360	C	T	140229360	3	4	191	1	0	0	0	0	1	0	0	0	11531	768	27	1	1282	1	PCDHA9	5	140229360	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	20221	140229360	40685900	597	103617											
PCDHA11	56138	broad.mit.edu	37	chr5	140250297	140250297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagttccaggtgagcgcgCgcgatgcgggcgtgccgcct	16	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140250297C>A	uc003lia.2	+	1	2467	c.1609C>A	c.(1609-1611)CGC>AGC	p.R537S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R537S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	537	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGATGCGGG	0.672													A	140250297	C	A	140250297	3	1	191	1	0	0	0	0	1	0	0	0	11521	768	27	5	1611	5	PCDHA11	5	140250297	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	20937	140250297	40664963	598	103618											
PCDHA13	56136	broad.mit.edu	37	chr5	140263587	140263587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgggaggcacagtgagCgagctgatgccgcggtcggt	19	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140263587C>T	uc003lif.2	+	1	1734	c.1734C>T	c.(1732-1734)AGC>AGT	p.S578S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S578S|PCDHA13_uc003lid.2_Silent_p.S578S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	578	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGTGAGCGAGCTGATGC	0.672													T	140263587	C	T	140263587	2	4	191	1	0	0	0	0	0	0	0	1	11523	767	27	1		1	PCDHA13	5	140263587	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	13290	140263587	40651673	599	103619											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347691	140347691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacagatgggggaatacCgcagctcacatccctgcgta	11	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140347691C>T	uc003lii.2	+	1	1580	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.P447L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	447	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGGAATACCGCAGCTCACA	0.537													T	140347691	C	T	140347691	3	4	191	1	0	0	0	0	1	0	0	0	11533	652	23	1	1342	1	PCDHAC2	5	140347691	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	84104	140347691	40567569	600	103620											
PCDHB6	56130	broad.mit.edu	37	chr5	140532163	140532163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcccaacttccctcctcaGggcactgagagagaaatgga	10	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140532163G>T	uc003lir.2	+	1	2325	c.2325G>T	c.(2323-2325)CAG>CAT	p.Q775H	PCDHB6_uc011dah.1_Missense_Mutation_p.Q639H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	775	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCTCCTCAGGGCACTGAGA	0.468													T	140532163	G	T	140532163	3	4	191	1	0	0	0	0	1	0	0	0	11546	991	35	5	2327	5	PCDHB6	5	140532163	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	184472	140532163	40383097	601	103621											
PCDHB8	56128	broad.mit.edu	37	chr5	140559277	140559277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgctggtgctggaCgccaacgacaactcgccctt	13	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140559277C>T	uc011dai.1	+	1	1848	c.1662C>T	c.(1660-1662)GAC>GAT	p.D554D	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	554	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.706													T	140559277	C	T	140559277	2	4	191	1	0	0	0	0	0	0	0	1	11548	535	19	1		1	PCDHB8	5	140559277	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	27114	140559277	40355983	602	103622											
PCDHB16	57717	broad.mit.edu	37	chr5	140563395	140563395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctgaatataatatcaccCtcaccgtcacagatatgggg	9	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140563395C>A	uc003liv.2	+	1	2416	c.1261C>A	c.(1261-1263)CTC>ATC	p.L421I	PCDHB16_uc010jfw.1_Missense_Mutation_p.L93I	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	421	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATATCACCCTCACCGTCAC	0.453													A	140563395	C	A	140563395	3	1	191	1	0	0	0	0	1	0	0	0	11541	681	24	5	1263	5	PCDHB16	5	140563395	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4118	140563395	40351865	603	103623											
PCDHB9	56127	broad.mit.edu	37	chr5	140568260	140568260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacccaaacctcctacAccctgttcgtccgggagaac	6	18	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140568260A>G	uc003liw.1	+	3	1369	c.1369A>G	c.(1369-1371)ACC>GCC	p.T457A		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	457	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCTCCTACACCCTGTTCGT	0.612													G	140568260	A	G	140568260	3	3	191	1	0	0	0	0	1	0	0	0	11549	146	6	3	1370	3	PCDHB9	5	140568260	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	4865	140568260	40347000	604	103624											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712379	140712379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctggccttcgtcatcGtgctgctggcgcacaggctg	12	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140712379G>A	uc003lji.1	+	1	2128	c.2128G>A	c.(2128-2130)GTG>ATG	p.V710M	PCDHGA1_uc011dan.1_Missense_Mutation_p.V710M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	710	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTCATCGTGCTGCTGGC	0.662													A	140712379	G	A	140712379	3	1	191	1	0	0	0	0	1	0	0	0	11550	1145	40	1	2130	1	PCDHGA1	5	140712379	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	144119	140712379	40202881	605	103625											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720690	140720690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcgcacaggctgcggCgctggcacaagtcacgcctg	15	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140720690C>T	uc003ljk.1	+	1	2337	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.R718C|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	718	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCTGCGGCGCTGGCACAA	0.642													T	140720690	C	T	140720690	3	4	191	1	0	0	0	0	1	0	0	0	11554	768	27	1	2154	1	PCDHGA2	5	140720690	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8311	140720690	40194570	606	103626											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725511	140725511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctggacagagacgcGctcaagcagagcctcgtggt	14	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140725511G>A	uc003ljm.1	+	1	1911	c.1911G>A	c.(1909-1911)GCG>GCA	p.A637A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A397A|PCDHGA3_uc011dap.1_Silent_p.A637A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	637	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.701													A	140725511	G	A	140725511	2	1	191	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDHGA3	5	140725511	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4821	140725511	40189749	607	103627											
PCDHGB2	56103	broad.mit.edu	37	chr5	140739781	140739781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttgtctttgttccccGgggctctcccagtccagatc	9	15	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140739781G>A	uc003ljs.1	+	1	79	c.79G>A	c.(79-81)GGG>AGG	p.G27R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.G27R	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	27					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTTCCCCGGGGCTCTCCC	0.592											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140739781	G	A	140739781	3	1	191	1	0	0	0	0	1	0	0	0	11563	1116	39	1	81	1	PCDHGB2	5	140739781	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	14270	140739781	40175479	608	103628											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769353	140769353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccttaggcgacagggaCgccgtccgccagcgccttct	13	16	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140769353C>T	uc003lkc.1	+	1	1902	c.1902C>T	c.(1900-1902)GAC>GAT	p.D634D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.D634D	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	634	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACAGGGACGCCGTCCGCC	0.697													T	140769353	C	T	140769353	2	4	191	1	0	0	0	0	0	0	0	1	11565	535	19	1		1	PCDHGB4	5	140769353	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	29572	140769353	40145907	609	103629											
PCDHGC5	56097	broad.mit.edu	37	chr5	140773871	140773871	+	Frame_Shift_Del	DEL	G	G	-													gtgaccgaggacacgctgcaGggggcgcccctgtcctcgta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140773870_140773870AG>A	uc003lkd.2	+	0	2388	c.1490_1490AG>A	c.(1489-1491)cagfs	p.Q497fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Frame_Shift_Del_p.Q497fs|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	499	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q497*(1)		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)			GACACGCTGCAGGGGGCGCCC	0.562													-	140773871	G	-	140773871	7	5	191	1	0	1	0	1	0	0	0	0	11571	991	35	0		0	PCDHGC5	5	140773871	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	4518	140773871	40141389	610	103630											
PCDHGA10	56106	broad.mit.edu	37	chr5	140795052	140795052	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgcggactcgcgaaagagTcacctgatcttcccccagcc	9	17	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140795052T>A	uc003lkl.1	+	1	2310	c.2310T>A	c.(2308-2310)AGT>AGA	p.S770R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.S770R|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	770	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAAAGAGTCACCTGATCT	0.552													A	140795052	T	A	140795052	3	1	191	1	0	0	0	0	1	0	0	0	11551	1664	58	5	2312	5	PCDHGA10	5	140795052	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	21181	140795052	40120208	611	103631											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801469	140801469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatcccatccgaaagggCgcagttcccattcgtgtggt	13	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140801469C>T	uc003lkq.1	+	1	933	c.675C>T	c.(673-675)GGC>GGT	p.G225G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.G225G|PCDHGA11_uc003lkp.1_Silent_p.G225G	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	225	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGAAAGGGCGCAGTTCCCA	0.527													T	140801469	C	T	140801469	2	4	191	1	0	0	0	0	0	0	0	1	11552	755	27	1		1	PCDHGA11	5	140801469	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6417	140801469	40113791	612	103632											
RNF14	9604	broad.mit.edu	37	chr5	141358224	141358224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaattgttcctgtgcagTatctgtttctgtgagaagct	10	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:141358224T>C	uc003lly.2	+	4	702	c.663T>C	c.(661-663)AGT>AGC	p.S221S	RNF14_uc003llz.2_Silent_p.S221S|RNF14_uc003lma.2_Silent_p.S221S|RNF14_uc003lmb.2_Silent_p.S95S|RNF14_uc003lmc.2_Silent_p.S221S|RNF14_uc011dbg.1_Intron|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Silent_p.S221S	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	221	RING-type 1; atypical.				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				0		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)		TCCTGTGCAGTATCTGTTTCT	0.418													C	141358224	T	C	141358224	2	2	191	1	0	0	0	0	0	0	0	1	13443	1635	57	3		3	RNF14	5	141358224	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	556755	141358224	39557036	613	103633											
SH3RF2	153769	broad.mit.edu	37	chr5	145439558	145439558	+	Frame_Shift_Del	DEL	C	C	-													gccacaggggatcccctcctCcccctcagccgtggtggtgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:145439557_145439557TC>T	uc003lnt.3	+	8	1922	c.1684_1684TC>T	c.(1684-1686)tccfs	p.S562fs	SH3RF2_uc011dbl.1_Frame_Shift_Del_p.S562fs|SH3RF2_uc011dbm.1_Frame_Shift_Del_p.S47fs|SH3RF2_uc003lnu.3_Frame_Shift_Del_p.S53fs|SH3RF2_uc011dbn.1_Frame_Shift_Del_p.S53fs|SH3RF2_uc011dbo.2_Frame_Shift_Del_p.S19fs	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	562							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)			GATCCCCTCCTCCCCCTCAGC	0.667													-	145439558	C	-	145439558	7	5	191	1	0	1	0	1	0	0	0	0	14259	855	30	0	1715	0	SH3RF2	5	145439558	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	4081334	145439558	35475702	614	103634											
DPYSL3	1809	broad.mit.edu	37	chr5	146788339	146788339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggccagttatccccatTtccaacatgcgggtttgctc	9	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:146788339T>C	uc003lon.1	-	7	752	c.642A>G	c.(640-642)GAA>GAG	p.E214E	DPYSL3_uc003loo.2_Silent_p.E328E	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	214					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCCCCATTTCCAACATGC	0.413													C	146788339	T	C	146788339	2	2	191	1	0	0	0	0	0	0	0	1	4748	1838	64	3		3	DPYSL3	5	146788339	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1348781	146788339	34126921	615	103635											
ABLIM3	22885	broad.mit.edu	37	chr5	148619446	148619446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctcaccactactaccGctctggtaaggaagggggag	11	13	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:148619446G>A	uc003lpy.2	+	13	1450	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	ABLIM3_uc003lpz.1_Missense_Mutation_p.R400H|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346H|ABLIM3_uc003lqb.2_Missense_Mutation_p.R338H|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400H|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338H|ABLIM3_uc003lqf.2_Missense_Mutation_p.R338H|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338H	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTACTACCGCTCTGGTAAG	0.642													A	148619446	G	A	148619446	3	1	191	1	0	0	0	0	1	0	0	0	96	1087	38	1	1245	1	ABLIM3	5	148619446	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1831107	148619446	32295814	616	103636											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687114	148687114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatatgtgccttcctgctgCggaaaaagcgtttcgggcag	14	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:148687114C>T	uc003lqh.2	+	7	816	c.685C>T	c.(685-687)CGG>TGG	p.R229W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R229W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R229W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	229	PH 1.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCTGCGGAAAAAGCG	0.632													T	148687114	C	T	148687114	3	4	191	1	0	0	0	0	1	0	0	0	354	759	27	1	711	1	AFAP1L1	5	148687114	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	67668	148687114	32228146	617	103637											
CSF1R	1436	broad.mit.edu	37	chr5	149447811	149447811	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacaatagcagcaggagcagCagcagcagcaaggccatgat	12	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149447811C>G	uc003lrl.2	-	10	1788	c.1593G>C	c.(1591-1593)CTG>CTC	p.L531L	CSF1R_uc011dcd.1_Silent_p.L383L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.L531L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	531	Helical; (Potential).				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			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	gcaggagcagcagcagcagca	0.512													G	149447811	C	G	149447811	2	3	191	1	0	0	0	0	0	0	0	1	3932	697	25	5		5	CSF1R	5	149447811	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	760697	149447811	31467449	618	103638											
ARSI	340075	broad.mit.edu	37	chr5	149677060	149677060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggccgctggccagccaggTcctcccgttcataagggtca	12	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149677060T>C	uc003lrv.2	-	2	2016	c.1427A>G	c.(1426-1428)GAC>GGC	p.D476G		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	476						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAGCCAGGTCCTCCCGTTC	0.637													C	149677060	T	C	149677060	3	2	191	1	0	0	0	0	1	0	0	0	994	1667	58	3	286	3	ARSI	5	149677060	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	229249	149677060	31238200	619	103639											
RPS14	6208	broad.mit.edu	37	chr5	149826384	149826384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatttcctcctgtggcccGgagtttgatgtgtagggcgg	14	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149826384G>A	uc003lsh.2	-	3	565	c.292C>T	c.(292-294)CGG>TGG	p.R98W	uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Missense_Mutation_p.R98W|RPS14_uc003lsj.2_Missense_Mutation_p.R98W	NM_001025071	NP_001020242	P62263	RS14_HUMAN	ribosomal protein S14	98					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGTGGCCCGGAGTTTGATG	0.572													A	149826384	G	A	149826384	3	1	191	1	0	0	0	0	1	0	0	0	13624	1115	39	1	175	1	RPS14	5	149826384	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	149324	149826384	31088876	620	103640											
NDST1	3340	broad.mit.edu	37	chr5	149927860	149927860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggctctgacgcatcctcGaagctgcgtgccctccagaa	11	16	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149927860G>A	uc003lsk.3	+	12	2728	c.2226G>A	c.(2224-2226)TCG>TCA	p.S742S	NDST1_uc011dcj.1_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	742	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCATCCTCGAAGCTGCGTG	0.627													A	149927860	G	A	149927860	2	1	191	1	0	0	0	0	0	0	0	1	10255	1045	37	1		1	NDST1	5	149927860	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	101476	149927860	30987400	621	103641											
ANXA6	309	broad.mit.edu	37	chr5	150505975	150505975	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgacctctactcgggcCactgcactaagttcccacat	8	15	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:150505975C>A	uc003ltl.1	-	14	1196	c.1044G>T	c.(1042-1044)GTG>GTT	p.V348V	ANXA6_uc011dcp.1_Silent_p.V316V|ANXA6_uc003ltm.1_Silent_p.V348V|ANXA6_uc003ltn.1_Silent_p.V141V|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	348						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACTCGGGCCACTGCACTAA	0.597											OREG0016946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	150505975	C	A	150505975	2	1	191	1	0	0	0	0	0	0	0	1	722	581	21	5		5	ANXA6	5	150505975	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	578115	150505975	30409285	622	103642											
FAT2	2196	broad.mit.edu	37	chr5	150900904	150900904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcctggcggtgctgtaCgtgggcccaaccttggggtc	16	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:150900904C>T	uc003lue.3	-	18	11263	c.11250G>A	c.(11248-11250)ACG>ACA	p.T3750T	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.T443T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3750	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGTGCTGTACGTGGGCCCAA	0.607													T	150900904	C	T	150900904	2	4	191	1	0	0	0	0	0	0	0	1	5690	523	19	1		1	FAT2	5	150900904	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	394929	150900904	30014356	623	103643											
GALNT10	55568	broad.mit.edu	37	chr5	153674465	153674465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggccatccggagggaCgctcagcgcgtaggtacgga	17	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:153674465C>T	uc003lvh.2	+	2	381	c.249C>T	c.(247-249)GAC>GAT	p.D83D	GALNT10_uc003lvg.1_Silent_p.D83D|GALNT10_uc010jic.2_RNA	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	83	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	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)			TCCGGAGGGACGCTCAGCGCG	0.458													T	153674465	C	T	153674465	2	4	191	1	0	0	0	0	0	0	0	1	6208	535	19	1		1	GALNT10	5	153674465	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2773561	153674465	27240795	624	103644											
RARS	5917	broad.mit.edu	37	chr5	167915644	167915644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgactgctgaaattgaccGgttgaaaaactgtggctgtt	11	7	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:167915644G>A	uc003lzx.2	+	2	124	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	RARS_uc011deo.1_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	28	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAATTGACCGGTTGAAAAAC	0.368													A	167915644	G	A	167915644	3	1	191	1	0	0	0	0	1	0	0	0	13058	1116	39	1	89	1	RARS	5	167915644	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	14241179	167915644	12999616	625	103645											
PANK3	79646	broad.mit.edu	37	chr5	167991059	167991059	+	Frame_Shift_Del	DEL	C	C	-													tgcataaacccagaaaggtaCcccctccaaggctaaagaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:167991058_167991058AC>A	uc003lzz.2	-	3	974	c.648_648GT>T	c.(646-648)ggtfs	p.G216fs		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	216					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)		CCAGAAAGGTACCCCCTCCAA	0.378													-	167991059	C	-	167991059	7	5	191	1	0	1	0	1	0	0	0	0	11418	507	18	0	481	0	PANK3	5	167991059	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	75415	167991059	12924201	626	103646											
SLIT3	6586	broad.mit.edu	37	chr5	168093623	168093623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgatgggcaccttggaggCtgtggcacatgatgcataac	13	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:168093623C>A	uc003mab.2	-	36	4828	c.4408G>T	c.(4408-4410)GCC>TCC	p.A1470S	SLIT3_uc010jjg.2_Missense_Mutation_p.A1477S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1470	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			ovary(3)|skin(1)	4	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)			ACCTTGGAGGCTGTGGCACAT	0.602													A	168093623	C	A	168093623	3	1	191	1	0	0	0	0	1	0	0	0	14741	797	28	5	167	5	SLIT3	5	168093623	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	102564	168093623	12821637	627	103647											
DOCK2	1794	broad.mit.edu	37	chr5	169496192	169496192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctgaggaccaggacaagCtgacccacctcaaggacctg	10	15	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:169496192C>A	uc003maf.2	+	46	4776	c.4696C>A	c.(4696-4698)CTG>ATG	p.L1566M	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L1058M|DOCK2_uc003mah.2_Missense_Mutation_p.L122M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1566	DHR-2.				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			ovary(5)|pancreas(2)	7	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)			CCAGGACAAGCTGACCCACCT	0.592													A	169496192	C	A	169496192	3	1	191	1	0	0	0	0	1	0	0	0	4687	796	28	5	4878	5	DOCK2	5	169496192	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1402569	169496192	11419068	628	103648											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171765831	171765832	+	Frame_Shift_Ins	INS	-	-	G													tttgggggaggtggtctgcgINSgggtgggaccacaggtctct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:171765830_171765831C>CG	uc003mbr.3	-	12	2449_2450	c.2278_2279G>CG	c.(2278-2280)cgcfs	p.R760fs		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	760	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate 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)			AGGTGGTCTGCGGGGTGGGACC	0.624													G	171765832	-	G	171765831	7	5	191	1	0	1	1	0	0	0	0	0	14257	1116	39	0	461	0	SH3PXD2B	5	171765831	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	2269639	171765831	9149429	629	103649											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171833291	171833291	+	Frame_Shift_Del	DEL	G	G	-													tctcacctacctggcagaaaGgggatgatccgctgcttggg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:171833290_171833290AG>A	uc003mbr.3	-	2	394	c.223_223CT>T	c.(223-225)tttfs	p.F75fs	SH3PXD2B_uc003mbs.1_Frame_Shift_Del_p.F75fs	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	75	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding	p.P74L(1)		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)			CCTGGCAGAAAGGGGATGATC	0.517													-	171833291	G	-	171833291	7	5	191	1	0	1	0	1	0	0	0	0	14257	987	35	0	2557	0	SH3PXD2B	5	171833291	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	67460	171833291	9081969	630	103650											
FAF2	23197	broad.mit.edu	37	chr5	175933771	175933771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatatgacctctgcaggtAatccacgacttcttattctc	5	12	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:175933771A>G	uc003mej.3	+	11	1211	c.1158A>G	c.(1156-1158)GTA>GTG	p.V386V		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	386	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						CTCTGCAGGTAATCCACGACT	0.368													G	175933771	A	G	175933771	2	3	191	1	0	0	0	0	0	0	0	1	5370	349	13	3		3	FAF2	5	175933771	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	4100480	175933771	4981489	631	103651											
CDHR2	54825	broad.mit.edu	37	chr5	176003174	176003174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcaccatggtggtctaCgacccggacaaggcaggcgt	13	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:176003174C>T	uc003mem.1	+	12	1248	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y	CDHR2_uc003men.1_Silent_p.Y394Y	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	394	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGGTGGTCTACGACCCGGACA	0.662													T	176003174	C	T	176003174	2	4	191	1	0	0	0	0	0	0	0	1	3119	547	19	1		1	CDHR2	5	176003174	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	69403	176003174	4912086	632	103652											
FGFR4	2264	broad.mit.edu	37	chr5	176517487	176517487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcgggctgagcgtgGtggccactggtacaaggagg	20	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:176517487G>A	uc003mfl.2	+	3	355	c.188G>A	c.(187-189)GGT>GAT	p.G63D	FGFR4_uc003mfm.2_Missense_Mutation_p.G63D|FGFR4_uc011dfu.1_Missense_Mutation_p.G63D|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.G63D|FGFR4_uc011dfw.1_Missense_Mutation_p.G63D|FGFR4_uc003mfo.2_Missense_Mutation_p.G63D	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	63	Ig-like C2-type 1.|Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	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)	GCTGAGCGTGGTGGCCACTGG	0.662										TSP Lung(9;0.080)			A	176517487	G	A	176517487	3	1	191	1	0	0	0	0	1	0	0	0	5868	1261	44	4	194	4	FGFR4	5	176517487	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	514313	176517487	4397773	633	103653											
LMAN2	10960	broad.mit.edu	37	chr5	176761333	176761333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctcgatcttggtccagtCgatgctctcctcgtcgggcg	14	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:176761333C>T	uc003mge.2	-	7	1099	c.862G>A	c.(862-864)GAC>AAC	p.D288N	LMAN2_uc003mgd.2_Missense_Mutation_p.D288N	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	288	Lumenal (Potential).				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	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)			TTGGTCCAGTCGATGCTCTCC	0.587													T	176761333	C	T	176761333	3	4	191	1	0	0	0	0	1	0	0	0	8838	884	31	1	216	1	LMAN2	5	176761333	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	243846	176761333	4153927	634	103654											
FAM153C	653316	broad.mit.edu	37	chr5	177473894	177473894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagcaagtccttcctctGcacctgcagaagaagcaaca	8	13	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:177473894G>A	uc011dge.1	+	10	496	c.295G>A	c.(295-297)GCA>ACA	p.A99T	FAM153C_uc003mig.1_Missense_Mutation_p.A99T	NM_001079527	NP_001072995			hypothetical protein LOC653316												0	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)			TCCTTCCTCTGCACCTGCAGA	0.517													A	177473894	G	A	177473894	3	1	191	1	0	0	0	0	1	0	0	0	5462	1319	46	2	325	2	FAM153C	5	177473894	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	712561	177473894	3441366	635	103655											
GRM6	2916	broad.mit.edu	37	chr5	178413540	178413540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcaccacaggtgtggggCggcagcccgtgtggttgggc	20	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:178413540C>T	uc003mjr.2	-	8	1894	c.1715G>A	c.(1714-1716)CGC>CAC	p.R572H	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.R155H|GRM6_uc003mjs.1_Missense_Mutation_p.R192H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	572	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		AGGTGTGGGGCGGCAGCCCGT	0.706													T	178413540	C	T	178413540	3	4	191	1	0	0	0	0	1	0	0	0	6801	768	27	1	930	1	GRM6	5	178413540	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	939646	178413540	2501720	636	103656											
GRM6	2916	broad.mit.edu	37	chr5	178413854	178413854	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcacatccagtctgagggtCtctgcccactggcccactgc	9	17	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:178413854C>T	uc003mjr.2	-	7	1664	c.1485G>A	c.(1483-1485)GAG>GAA	p.E495E	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.E78E|GRM6_uc003mjs.1_Silent_p.E115E	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	495	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		GTCTGAGGGTCTCTGCCCACT	0.657													T	178413854	C	T	178413854	2	4	191	1	0	0	0	0	0	0	0	1	6801	912	32	4		4	GRM6	5	178413854	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	314	178413854	2501406	637	103657											
GFPT2	9945	broad.mit.edu	37	chr5	179743769	179743769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtcacacttacagccaCggcagcgtggtagctggttc	12	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:179743769C>T	uc003mlw.1	-	12	1245	c.1147G>A	c.(1147-1149)GTG>ATG	p.V383M		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	383	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			ovary(1)|skin(1)	2	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)	CTTACAGCCACGGCAGCGTGG	0.562													T	179743769	C	T	179743769	3	4	191	1	0	0	0	0	1	0	0	0	6346	536	19	1	933	1	GFPT2	5	179743769	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1329915	179743769	1171491	638	103658											
FLT4	2324	broad.mit.edu	37	chr5	180053236	180053236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcatgtggactgtggCgcccggacagtgcctttcca	14	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180053236C>T	uc003mma.3	-	9	1212	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	FLT4_uc003mlz.3_Missense_Mutation_p.R378H|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.R378H	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	378	Ig-like C2-type 4.|Extracellular (Potential).		R -> C (in a renal clear cell carcinoma sample; somatic mutation).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.R378C(1)		lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	TGGACTGTGGCGCCCGGACAG	0.647									Congenital_Hereditary_Lymphedema				T	180053236	C	T	180053236	3	4	191	1	0	0	0	0	1	0	0	0	5944	768	27	1	3054	1	FLT4	5	180053236	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	309467	180053236	862024	639	103659											
OR2Y1	134083	broad.mit.edu	37	chr5	180166230	180166230	+	Frame_Shift_Del	DEL	A	A	-													aatgggggtaattatagtatAaaaaagggcaacaaattttc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180166229_180166229TA>T	uc003mmf.1	-	0	830	c.830_830TA>A	c.(829-831)tatfs	p.Y277fs		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	277					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)			AATTATAGTATAAAAAAGGGC	0.418													-	180166230	A	-	180166230	7	5	191	1	0	1	0	1	0	0	0	0	11035	362	13	0	110	0	OR2Y1	5	180166230	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	112994	180166230	749030	640	103660											
BTNL8	79908	broad.mit.edu	37	chr5	180374580	180374580	+	Frame_Shift_Del	DEL	T	T	-													gaatactctgctgtggcctaTtttttggcattgttggactg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180374579_180374579AT>A	uc003mmp.3	+	3	975	c.741_741AT>A	c.(739-741)ctafs	p.L247fs	BTNL8_uc003mmq.3_Frame_Shift_Del_p.L247fs|BTNL8_uc010jll.3_Frame_Shift_Del_p.L247fs|BTNL8_uc011dhg.2_Frame_Shift_Del_p.L122fs|BTNL8_uc010jlm.3_Frame_Shift_Del_p.L131fs|BTNL8_uc011dhh.2_Frame_Shift_Del_p.L63fs	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	247						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)			GCTGTGGCCTATTTTTTGGCA	0.443													-	180374580	T	-	180374580	7	5	191	1	0	1	0	1	0	0	0	0	1567	1493	52	0	782	0	BTNL8	5	180374580	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	208350	180374580	540680	641	103661											
BTNL3	10917	broad.mit.edu	37	chr5	180432665	180432665	+	Frame_Shift_Del	DEL	C	C	-													aatccccattttatcagcctCccccccagcacccctcctac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180432664_180432664TC>T	uc003mmr.3	+	7	1377	c.1193_1193TC>T	c.(1192-1194)ctcfs	p.L398fs	BTNL3_uc010jlp.3_Frame_Shift_Del_p.L183fs	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	398	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTATCAGCCTCCCCCCCAGC	0.473													-	180432665	C	-	180432665	7	5	191	1	0	1	0	1	0	0	0	0	1566	842	30	0	1224	0	BTNL3	5	180432665	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	58085	180432665	482595	642	103662											
TRIM7	81786	broad.mit.edu	37	chr5	180625788	180625788	+	Frame_Shift_Del	DEL	C	C	-													agactgtggttggcttggggCcaggcacattgctacacctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180625787_180625787GC>G	uc003mmz.1	-	4	958	c.891_891GC>C	c.(889-891)ggcfs	p.G297fs	TRIM7_uc003mmv.1_Frame_Shift_Del_p.G115fs|TRIM7_uc003mmw.1_Frame_Shift_Del_p.G89fs|TRIM7_uc003mmy.1_Frame_Shift_Del_p.G89fs|TRIM7_uc003mmx.1_Frame_Shift_Del_p.G89fs	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	297						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)		TTGGCTTGGGGCCAGGCACAT	0.493													-	180625788	C	-	180625788	7	5	191	1	0	1	0	1	0	0	0	0	16540	739	26	0	657	0	TRIM7	5	180625788	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	193123	180625788	289472	643	103663											
TRIM52	84851	broad.mit.edu	37	chr5	180687440	180687440	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcctcttcttcttcTtcctcctcgtcccacatata	2	16	5	1	rs80196452		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180687440T>C	uc003mnp.2	-	1	680	c.375A>G	c.(373-375)GAA>GAG	p.E125E	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	125	Glu-rich.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CTTCTTCTTCTTCCTCCTCGT	0.453													C	180687440	T	C	180687440	2	2	191	1	0	0	0	0	0	0	0	1	16524	1606	56	3		3	TRIM52	5	180687440	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	61652	180687440	227820	644	103664											
FAM50B	26240	broad.mit.edu	37	chr6	3850865	3850865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcgatgtgcacgatgacGtgcgcctgctcagcgacgcc	13	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:3850865G>A	uc003mvu.2	+	2	932	c.820G>A	c.(820-822)GTG>ATG	p.V274M		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	274						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCACGATGACGTGCGCCTGCT	0.627													A	3850865	G	A	3850865	3	1	191	1	0	0	0	0	1	0	0	0	5578	1145	40	1	822	1	FAM50B	6	3850865	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08		3850865	167264202	645	103665											
CDYL	9425	broad.mit.edu	37	chr6	4943797	4943797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaacttcgtgaatacttTcattcaatttaagaagccca	5	8	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:4943797T>C	uc003mwi.2	+	7	1432	c.1301T>C	c.(1300-1302)TTC>TCC	p.F434S	CDYL_uc003mwj.2_Missense_Mutation_p.F380S|CDYL_uc003mwk.2_Missense_Mutation_p.F145S|CDYL_uc011dhx.1_Missense_Mutation_p.F248S|CDYL_uc011dhy.1_Missense_Mutation_p.F248S	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	434					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GTGAATACTTTCATTCAATTT	0.353													C	4943797	T	C	4943797	3	2	191	1	0	0	0	0	1	0	0	0	3185	1783	62	3	1157	3	CDYL	6	4943797	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1092932	4943797	166171270	646	103666											
CDYL	9425	broad.mit.edu	37	chr6	4952537	4952537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggacggaagctgacagCgcaggaggcgtgtggcaagg	19	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:4952537C>T	uc003mwi.2	+	8	1663	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	CDYL_uc003mwj.2_Missense_Mutation_p.A457V|CDYL_uc003mwk.2_Missense_Mutation_p.A222V|CDYL_uc011dhx.1_Missense_Mutation_p.A325V|CDYL_uc011dhy.1_Missense_Mutation_p.A325V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	511					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AAGCTGACAGCGCAGGAGGCG	0.577													T	4952537	C	T	4952537	3	4	191	1	0	0	0	0	1	0	0	0	3185	768	27	1	1392	1	CDYL	6	4952537	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8740	4952537	166162530	647	103667											
FARS2	10667	broad.mit.edu	37	chr6	5369002	5369002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacgaccacagcaacctcAcccggaaggtcctcaccaga	9	16	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:5369002A>G	uc010jnv.1	+	2	535	c.199A>G	c.(199-201)ACC>GCC	p.T67A	FARS2_uc003mwr.2_Missense_Mutation_p.T67A|FARS2_uc003mws.1_Missense_Mutation_p.T67A	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	67					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CAGCAACCTCACCCGGAAGGT	0.587													G	5369002	A	G	5369002	3	3	191	1	0	0	0	0	1	0	0	0	5678	159	6	3	201	3	FARS2	6	5369002	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	416465	5369002	165746065	648	103668											
LY86	9450	broad.mit.edu	37	chr6	6588968	6588968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatacaggcccccaccAtgaagggtttcacagccact	8	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:6588968A>G	uc003mwy.1	+	1	35	c.1A>G	c.(1-3)ATG>GTG	p.M1V	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	1					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					GGCCCCCACCATGAAGGGTTT	0.522													G	6588968	A	G	6588968	3	3	191	1	0	0	0	0	1	0	0	0	9100	217	8	3	3	3	LY86	6	6588968	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1219966	6588968	164526099	649	103669											
RREB1	6239	broad.mit.edu	37	chr6	7248924	7248924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccacagcggcaacaacgCcgtctcagagaacgaggctg	11	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7248924C>T	uc003mxc.2	+	12	5177	c.4787C>T	c.(4786-4788)GCC>GTC	p.A1596V	RREB1_uc003mxb.2_Missense_Mutation_p.A1651V|RREB1_uc010jnx.2_Missense_Mutation_p.A1385V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1596					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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCAACAACGCCGTCTCAGAG	0.622													T	7248924	C	T	7248924	3	4	191	1	0	0	0	0	1	0	0	0	13679	739	26	2	4990	2	RREB1	6	7248924	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	659956	7248924	163866143	650	103670											
DSP	1832	broad.mit.edu	37	chr6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctctatgatgctaaaCgccgccaggattccttagaa	10	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7576615C>T	uc003mxp.1	+	19	2998	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	907	Globular 1.|Spectrin 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423													T	7576615	C	T	7576615	3	4	191	1	0	0	0	0	1	0	0	0	4781	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	327691	7576615	163538452	651	103671											
DSP	1832	broad.mit.edu	37	chr6	7580509	7580509	+	Frame_Shift_Del	DEL	A	A	-													gatgaggagatcattagcttAaaaaatcagtttgagaccga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7580508_7580508TA>T	uc003mxp.1	+	22	4364	c.4085_4085TA>T	c.(4084-4086)ttafs	p.L1362fs	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1362	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)		ATCATTAGCTTAAAAAATCAG	0.458													-	7580509	A	-	7580509	7	5	191	1	0	1	0	1	0	0	0	0	4781	359	13	0	4176	0	DSP	6	7580509	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	3894	7580509	163534558	652	103672											
DSP	1832	broad.mit.edu	37	chr6	7585193	7585193	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatctccttgaaaaatggTgtcggcaccagcagcagcat	10	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7585193T>C	uc003mxp.1	+	24	7977	c.7698T>C	c.(7696-7698)GGT>GGC	p.G2566G	DSP_uc003mxq.1_Silent_p.G1967G	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2566	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAAAATGGTGTCGGCACCA	0.488													C	7585193	T	C	7585193	2	2	191	1	0	0	0	0	0	0	0	1	4781	1683	59	3		3	DSP	6	7585193	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	4684	7585193	163529874	653	103673											
NEDD9	4739	broad.mit.edu	37	chr6	11191366	11191366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttccagcttgtctcatggGaggggggaagtcatagtctt	13	9	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:11191366G>A	uc003mzv.2	-	5	903	c.736C>T	c.(736-738)CCC>TCC	p.P246S	NEDD9_uc010joz.2_Missense_Mutation_p.P246S|NEDD9_uc003mzw.3_Missense_Mutation_p.P100S	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	246					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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTCTCATGGGAGGGGGGAAG	0.527													A	11191366	G	A	11191366	3	1	191	1	0	0	0	0	1	0	0	0	10313	1174	41	4	1780	4	NEDD9	6	11191366	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3606173	11191366	159923701	654	103674											
GFOD1	54438	broad.mit.edu	37	chr6	13365145	13365145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagtcgtcgaaggtggCggccatggtgaggggccgcc	19	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:13365145C>T	uc003nat.1	-	2	1668	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	GFOD1_uc003nas.1_Missense_Mutation_p.A232T	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	335						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCGAAGGTGGCGGCCATGGTG	0.647													T	13365145	C	T	13365145	3	4	191	1	0	0	0	0	1	0	0	0	6343	768	27	1	173	1	GFOD1	6	13365145	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2173779	13365145	157749922	655	103675											
JARID2	3720	broad.mit.edu	37	chr6	15496493	15496493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccacggtgacgaagggggCtgtcacatacaccaaagcca	12	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:15496493C>A	uc003nbj.2	+	7	1281	c.1037C>A	c.(1036-1038)GCT>GAT	p.A346D	JARID2_uc011diu.1_Missense_Mutation_p.A210D|JARID2_uc011div.1_Missense_Mutation_p.A174D|JARID2_uc011diw.1_Missense_Mutation_p.A308D	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	346					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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACGAAGGGGGCTGTCACATAC	0.517													A	15496493	C	A	15496493	3	1	191	1	0	0	0	0	1	0	0	0	7945	797	28	5	1063	5	JARID2	6	15496493	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2131348	15496493	155618574	656	103676											
DEK	7913	broad.mit.edu	37	chr6	18258596	18258597	+	Frame_Shift_Ins	INS	-	-	T													gcattgtcaacctctctactINStttttcttttccctcttgcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:18258595_18258596C>CT	uc003ncr.1	-	2	379_380	c.186_187G>AG	c.(184-189)aaagtafs	p.K62fs	DEK_uc011djf.1_Intron|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	62					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)			AACCTCTCTACTTTTTTCTTTT	0.322			T	NUP214	AML								T	18258597	-	T	18258596	7	5	191	1	0	1	1	0	0	0	0	0	4424	1606	56	0	977	0	DEK	6	18258596	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	2762103	18258596	152856471	657	103677											
KIAA0319	9856	broad.mit.edu	37	chr6	24588957	24588957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgggcttttctccacGgtgactgagctgagctccag	12	12	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:24588957G>A	uc011djo.1	-	4	1095	c.858C>T	c.(856-858)ACC>ACT	p.T286T	KIAA0319_uc011djp.1_Silent_p.T241T|KIAA0319_uc003neh.1_Silent_p.T286T|KIAA0319_uc011djq.1_Silent_p.T277T|KIAA0319_uc011djr.1_Silent_p.T286T	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	286	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TTTTCTCCACGGTGACTGAGC	0.517													A	24588957	G	A	24588957	2	1	191	1	0	0	0	0	0	0	0	1	8168	1103	39	1		1	KIAA0319	6	24588957	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6330361	24588957	146526110	658	103678											
TRIM38	10475	broad.mit.edu	37	chr6	25966795	25966795	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgatggaggaagccacCtgctccatctgcctgagcct	11	12	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:25966795C>A	uc003nfm.2	+	3	480	c.45C>A	c.(43-45)ACC>ACA	p.T15T	TRIM38_uc003nfn.2_Silent_p.T15T	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	15					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						AGGAAGCCACCTGCTCCATCT	0.478													A	25966795	C	A	25966795	2	1	191	1	0	0	0	0	0	0	0	1	16509	668	24	5		5	TRIM38	6	25966795	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1377838	25966795	145148272	659	103679											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250706	26250706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcgacagtaccaggcCtgtagcggtggggcttcttc	17	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:26250706C>A	uc003nhg.1	-	1	130	c.128G>T	c.(127-129)AGG>ATG	p.R43M	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	43					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						AGTACCAGGCCTGTAGCGGTG	0.617													A	26250706	C	A	26250706	3	1	191	1	0	0	0	0	1	0	0	0	7160	681	24	5	286	5	HIST1H3F	6	26250706	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	283911	26250706	144864361	660	103680											
BTN2A1	11120	broad.mit.edu	37	chr6	26465541	26465541	+	Frame_Shift_Del	DEL	G	G	-													aggaaaaaaagattctgtcaGgggaaaaggagtttgaacgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:26465540_26465540AG>A	uc003nib.2	+	4	1088	c.840_840AG>A	c.(838-840)tcafs	p.S280fs	BTN2A1_uc021yni.1_Frame_Shift_Del_p.S280fs|BTN2A1_uc003nic.2_Frame_Shift_Del_p.S280fs|BTN2A1_uc011dko.2_Frame_Shift_Del_p.S219fs	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	280					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						AGATTCTGTCAGGGGAAAAGG	0.403													-	26465541	G	-	26465541	7	5	191	1	0	1	0	1	0	0	0	0	1560	1000	35	0	855	0	BTN2A1	6	26465541	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	214835	26465541	144649526	661	103681											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833428	27833428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcaacaagctgctggGcaaagtaaccatcgctcagg	12	11	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:27833428G>A	uc003njw.2	+	1	322	c.296G>A	c.(295-297)GGC>GAC	p.G99D		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	99					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						AAGCTGCTGGGCAAAGTAACC	0.592													A	27833428	G	A	27833428	3	1	191	1	0	0	0	0	1	0	0	0	7138	1203	42	2	298	2	HIST1H2AL	6	27833428	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1367887	27833428	143281639	662	103682											
NKAPL	222698	broad.mit.edu	37	chr6	28227419	28227419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcctcctggtcgacctcGtatagtggatatcgctacca	10	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:28227419G>A	uc003nkt.2	+	1	322	c.270G>A	c.(268-270)TCG>TCA	p.S90S	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	90										upper_aerodigestive_tract(1)|ovary(1)	2						GGTCGACCTCGTATAGTGGAT	0.582													A	28227419	G	A	28227419	2	1	191	1	0	0	0	0	0	0	0	1	10440	1132	40	1		1	NKAPL	6	28227419	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	393991	28227419	142887648	663	103683											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28334042	28334042	+	Frame_Shift_Del	DEL	A	A	-													atcagagaagccatgtagggAaaaacatcctatcacagtga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:28334041_28334041GA>G	uc010jrc.3	+	6	1929	c.1596_1596GA>G	c.(1594-1596)gggfs	p.G532fs	ZKSCAN3_uc003nle.4_Frame_Shift_Del_p.G532fs|ZKSCAN3_uc003nlf.4_Frame_Shift_Del_p.G384fs	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	532					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin 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						GCCATGTAGGGAAAAACATCC	0.448													-	28334042	A	-	28334042	7	5	191	1	0	1	0	1	0	0	0	0	17685	247	9	0	1615	0	ZKSCAN3	6	28334042	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	106623	28334042	142781025	664	103684											
OR10C1	442194	broad.mit.edu	37	chr6	29408492	29408492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatctgttgcgggccgcCgcaaggccttctccacctgc	10	18	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:29408492C>T	uc011dlp.1	+	1	700	c.700C>T	c.(700-702)CGC>TGC	p.R234C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCGGGCCGCCGCAAGGCCTT	0.592													T	29408492	C	T	29408492	3	4	191	1	0	0	0	0	1	0	0	0	10898	652	23	1	702	1	OR10C1	6	29408492	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1074450	29408492	141706575	665	103685											
VARS2	57176	broad.mit.edu	37	chr6	30889916	30889916	+	Frame_Shift_Del	DEL	C	C	-													ccagaccttgctcgtttctaCcccctgtcacttttggaaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:30889915_30889915AC>A	uc011dmz.2	+	19	2000	c.1919_1919AC>A	c.(1918-1920)tacfs	p.Y640fs	VARS2_uc003nsc.2_Frame_Shift_Del_p.Y610fs|VARS2_uc011dmx.2_Frame_Shift_Del_p.Y610fs|VARS2_uc011dmy.2_Frame_Shift_Del_p.Y470fs|VARS2_uc011dna.2_Frame_Shift_Del_p.Y608fs|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Frame_Shift_Del_p.L25fs|VARS2_uc010jsg.2_5'UTR|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	610					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						GCTCGTTTCTACCCCCTGTCA	0.642													-	30889916	C	-	30889916	7	5	191	1	0	1	0	1	0	0	0	0	17121	518	18	0	1998	0	VARS2	6	30889916	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1481424	30889916	140225151	666	103686											
CLIC1	1192	broad.mit.edu	37	chr6	31704062	31704062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgaacaattcgacctgcgGttgttcttcagccatggttg	10	11	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:31704062G>A	uc003nwr.2	-	1	280	c.16C>T	c.(16-18)CCG>TCG	p.P6S	CLIC1_uc003rje.2_Missense_Mutation_p.P6S	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	6	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						TCGACCTGCGGTTGTTCTTCA	0.597													A	31704062	G	A	31704062	3	1	191	1	0	0	0	0	1	0	0	0	3525	1261	44	4	733	4	CLIC1	6	31704062	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	814146	31704062	139411005	667	103687											
NEU1	4758	broad.mit.edu	37	chr6	31829855	31829855	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctcgcctcagcaaaggcGagaagagtgccccgcggagt	13	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:31829855G>A	uc003nxq.3	-	2	429	c.273C>T	c.(271-273)CTC>CTT	p.L91L	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Intron|NEU1_uc003nxs.3_Silent_p.L91L	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	91			L -> R (in SIALIDOSIS; type 2).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	CAGCAAAGGCGAGAAGAGTGC	0.592													A	31829855	G	A	31829855	2	1	191	1	0	0	0	0	0	0	0	1	10341	1045	37	1		1	NEU1	6	31829855	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	125793	31829855	139285212	668	103688											
PRRT1	80863	broad.mit.edu	37	chr6	32117390	32117390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaccgcgatgggcatgTagtcgtgtggcgggcgcctc	16	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32117390T>C	uc003nzt.2	-	3	784	c.668A>G	c.(667-669)TAC>TGC	p.Y223C	PRRT1_uc003nzs.2_Missense_Mutation_p.Y264C|PRRT1_uc003nzu.2_Silent_p.L115L	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	223					response to biotic stimulus	integral to membrane				breast(1)	1						GATGGGCATGTAGTCGTGTGG	0.682													C	32117390	T	C	32117390	3	2	191	1	0	0	0	0	1	0	0	0	12609	1638	57	3	260	3	PRRT1	6	32117390	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	287535	32117390	138997677	669	103689											
AGPAT1	10554	broad.mit.edu	37	chr6	32137211	32137211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcactgggggcagcacccGcacctgacattgtcctgggg	16	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32137211G>A	uc003oae.2	-	7	1012	c.694C>T	c.(694-696)CGG>TGG	p.R232W	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R196W|AGPAT1_uc003oaf.2_Missense_Mutation_p.R232W|AGPAT1_uc003oag.2_Missense_Mutation_p.R122W|AGPAT1_uc003oah.2_Missense_Mutation_p.R232W|AGPAT1_uc003oai.1_Missense_Mutation_p.R232W|AGPAT1_uc011dpl.1_Missense_Mutation_p.R120W	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	232					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GGCAGCACCCGCACCTGACAT	0.617													A	32137211	G	A	32137211	3	1	191	1	0	0	0	0	1	0	0	0	386	1086	38	1	161	1	AGPAT1	6	32137211	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	19821	32137211	138977856	670	103690											
TAP2	6891	broad.mit.edu	37	chr6	32803500	32803500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccggatccgcaagttgattCgagacatggtgtaggtgaag	14	8	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32803500C>T	uc003occ.2	-	3	690	c.659G>A	c.(658-660)CGA>CAA	p.R220Q	TAP2_uc011dqf.1_Missense_Mutation_p.R220Q|TAP2_uc003ocb.1_Missense_Mutation_p.R220Q|TAP2_uc003ocd.2_Missense_Mutation_p.R220Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	220	Cytoplasmic (Potential).|ABC transmembrane type-1.				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				0						CAAGTTGATTCGAGACATGGT	0.587													T	32803500	C	T	32803500	3	4	191	1	0	0	0	0	1	0	0	0	15548	884	31	1	1522	1	TAP2	6	32803500	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	666289	32803500	138311567	671	103691											
BRD2	6046	broad.mit.edu	37	chr6	32948441	32948443	+	In_Frame_Del	DEL	CTC	CTC	-													agctccagctcagattccagCtcctcctcttcctcgtcgtc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32948440_32948442GCTC>G	uc010juh.3	+	12	3760_3762	c.2456_2458GCTC>G	c.(2455-2460)agctcc>aGcc	p.819_820SS>S	BRD2_uc003ocn.4_In_Frame_Del_p.784_785SS>S|BRD2_uc003ocp.4_In_Frame_Del_p.664_665SS>S|BRD2_uc003ocq.4_In_Frame_Del_p.784_785SS>S|BRD2_uc021ywf.1_In_Frame_Del_p.737_738SS>S	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	784					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TCAGATTCCAGCTCCTCCTCTTC	0.557													-	32948443	CTC	-	32948441	7	5	191	1	0	1	0	1	0	0	0	0	1502	796	28	0	2398	0	BRD2	6	32948441	In_Frame_Del	DEL	CTC	TCGA-CG-5723-01A-11D-1600-08	144941	32948441	138166626	672	103692											
KIFC1	3833	broad.mit.edu	37	chr6	33373357	33373357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcagggccagggagtgaGgagctcactgtcaccaatgc	15	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:33373357G>T	uc003oef.3	+	7	1935	c.1485G>T	c.(1483-1485)GAG>GAT	p.E495D	KIFC1_uc011drf.1_Missense_Mutation_p.E487D	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	495	Kinesin-motor.				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				0						CAGGGAGTGAGGAGCTCACTG	0.587													T	33373357	G	T	33373357	3	4	191	1	0	0	0	0	1	0	0	0	8312	991	35	5	1511	5	KIFC1	6	33373357	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	424916	33373357	137741710	673	103693											
ZBTB9	221504	broad.mit.edu	37	chr6	33423605	33423605	+	Frame_Shift_Del	DEL	T	T	-													gccccagagagtatcaggggTttttccccgtcctcatggac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:33423604_33423604GT>G	uc003oeq.3	+	1	995	c.727_727GT>G	c.(727-729)gttfs	p.V243fs	ZBTB9_uc021ywp.1_Frame_Shift_Del_p.V243fs	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	243	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGTATCAGGGGTTTTTCCCCG	0.577													-	33423605	T	-	33423605	7	5	191	1	0	1	0	1	0	0	0	0	17555	1725	60	0	730	0	ZBTB9	6	33423605	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	50248	33423605	137691462	674	103694											
ITPR3	3710	broad.mit.edu	37	chr6	33643506	33643506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtggatgacgagggcgGccgcatgttcctgcgcgtgc	19	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:33643506G>A	uc011drk.1	+	25	3374	c.3155G>A	c.(3154-3156)GGC>GAC	p.G1052D		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1052	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GACGAGGGCGGCCGCATGTTC	0.647													A	33643506	G	A	33643506	3	1	191	1	0	0	0	0	1	0	0	0	7922	1203	42	2	3253	2	ITPR3	6	33643506	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	219901	33643506	137471561	675	103695											
GRM4	2914	broad.mit.edu	37	chr6	34101128	34101128	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaggcctcccagtgtgAtgtccccatctatgcggatg	12	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:34101128A>T	uc003oir.3	-	1	316	c.146T>A	c.(145-147)ATC>AAC	p.I49N	GRM4_uc011dsn.1_Missense_Mutation_p.I49N|GRM4_uc010jvh.2_Missense_Mutation_p.I49N|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	49	Extracellular (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TCCCAGTGTGATGTCCCCATC	0.602													T	34101128	A	T	34101128	3	4	191	1	0	0	0	0	1	0	0	0	6799	333	12	5	2632	5	GRM4	6	34101128	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	457622	34101128	137013939	676	103696											
PACSIN1	29993	broad.mit.edu	37	chr6	34499507	34499507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgactccaagggagtgcgcGtgcgggcactctacgactat	13	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:34499507G>A	uc003ojo.2	+	9	1374	c.1168G>A	c.(1168-1170)GTG>ATG	p.V390M	PACSIN1_uc003ojp.2_Missense_Mutation_p.V390M	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	390	SH3.				endocytosis		protein kinase activity				0						GGGAGTGCGCGTGCGGGCACT	0.662													A	34499507	G	A	34499507	3	1	191	1	0	0	0	0	1	0	0	0	11374	1145	40	1	1198	1	PACSIN1	6	34499507	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	398379	34499507	136615560	677	103697											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34804017	34804017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaacagcagcagcagcCgcctcagccagtactttgag	10	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:34804017C>T	uc003oju.3	+	8	1159	c.925C>T	c.(925-927)CGC>TGC	p.R309C	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	309										ovary(3)	3						CAGCAGCAGCCGCCTCAGCCA	0.567													T	34804017	C	T	34804017	3	4	191	1	0	0	0	0	1	0	0	0	16965	652	23	1	955	1	UHRF1BP1	6	34804017	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	304510	34804017	136311050	678	103698											
TCP11	6954	broad.mit.edu	37	chr6	35088275	35088275	+	Frame_Shift_Del	DEL	G	G	-													ccctgacacagcaccattgtGgggctgaggggctctgggtt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35088274_35088274TG>T	uc003okd.2	-	6	1085	c.904_904CA>A	c.(904-906)acafs	p.T302fs	TCP11_uc003ojz.1_Frame_Shift_Del_p.T227fs|TCP11_uc003oka.2_Frame_Shift_Del_p.T227fs|TCP11_uc003okb.2_Frame_Shift_Del_p.T226fs|TCP11_uc011dsu.1_Frame_Shift_Del_p.T284fs|TCP11_uc003okc.2_Frame_Shift_Del_p.T226fs|TCP11_uc011dsv.1_Frame_Shift_Del_p.T251fs|TCP11_uc011dsw.1_Frame_Shift_Del_p.T256fs	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	289					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGCACCATTGTGGGGCTGAGG	0.562													-	35088275	G	-	35088275	7	5	191	1	0	1	0	1	0	0	0	0	15710	1335	47	0	663	0	TCP11	6	35088275	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	284258	35088275	136026792	679	103699											
SCUBE3	222663	broad.mit.edu	37	chr6	35213108	35213108	+	Frame_Shift_Del	DEL	C	C	-													gagtgcatctggaacatcaaCcccccacccaagcgcaagat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35213107_35213107AC>A	uc003okf.1	+	18	2510	c.2504_2504AC>A	c.(2503-2505)aacfs	p.N835fs	SCUBE3_uc003okg.1_Frame_Shift_Del_p.N834fs|SCUBE3_uc003okh.1_Frame_Shift_Del_p.N722fs	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	835	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						TGGAACATCAACCCCCCACCC	0.562													-	35213108	C	-	35213108	7	5	191	1	0	1	0	1	0	0	0	0	13946	506	18	0	2579	0	SCUBE3	6	35213108	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	124833	35213108	135901959	680	103700											
PPARD	5467	broad.mit.edu	37	chr6	35392439	35392439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagttcctgcgcagcctcCgcaaacccttcagtgatatc	9	14	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35392439C>T	uc003okm.2	+	7	1270	c.961C>T	c.(961-963)CGC>TGC	p.R321C	PPARD_uc003okl.2_Missense_Mutation_p.R321C|PPARD_uc003okn.2_Missense_Mutation_p.R321C|PPARD_uc011dtb.1_Missense_Mutation_p.R282C|PPARD_uc011dtc.1_Missense_Mutation_p.R223C	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	321	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			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCGCAGCCTCCGCAAACCCTT	0.547													T	35392439	C	T	35392439	3	4	191	1	0	0	0	0	1	0	0	0	12298	652	23	1	996	1	PPARD	6	35392439	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	179331	35392439	135722628	681	103701											
FANCE	2178	broad.mit.edu	37	chr6	35425715	35425715	+	Frame_Shift_Del	DEL	C	C	-													gttagagggattggaggatgCccccccagttgagctacagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35425714_35425714GC>G	uc003oko.1	+	3	1107	c.922_922GC>G	c.(922-924)gccfs	p.A308fs	FANCE_uc010jvw.1_Frame_Shift_Del_p.A308fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGT	0.542			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	35425715	C	-	35425715	7	5	191	1	0	1	0	1	0	0	0	0	5666	739	26	0	937	0	FANCE	6	35425715	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	33276	35425715	135689352	682	103702											
ETV7	51513	broad.mit.edu	37	chr6	36343699	36343699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgaggatgcagagggCgcgtccgttcatctcgaacc	14	11	2	2	rs9394345	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:36343699C>T	uc003omb.2	-	3	405	c.256G>A	c.(256-258)GCC>ACC	p.A86T	ETV7_uc003olz.1_Missense_Mutation_p.A86T|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.R13H|ETV7_uc010jwh.2_Missense_Mutation_p.A5T|ETV7_uc010jwi.2_Missense_Mutation_p.A86T|ETV7_uc011dtl.1_Intron	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	86	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						ATGCAGAGGGCGCGTCCGTTC	0.642													T	36343699	C	T	36343699	3	4	191	1	0	0	0	0	1	0	0	0	5284	768	27	1	793	1	ETV7	6	36343699	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	917984	36343699	134771368	683	103703											
DNAH8	1769	broad.mit.edu	37	chr6	38976649	38976649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaacattcaacccaaagAgagtggaggtggtgtgggag	14	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:38976649A>G	uc003ooe.1	+	87	13223	c.12623A>G	c.(12622-12624)GAG>GGG	p.E4208G		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAACCCAAAGAGAGTGGAGGT	0.423													G	38976649	A	G	38976649	3	3	191	1	0	0	0	0	1	0	0	0	4607	304	11	3	12961	3	DNAH8	6	38976649	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2632950	38976649	132138418	684	103704											
DAAM2	23500	broad.mit.edu	37	chr6	39824082	39824082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcctgcagtgaccatgGccccccgcaagaggagccac	12	17	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:39824082G>A	uc003oow.2	+	2	160	c.4G>A	c.(4-6)GCC>ACC	p.A2T	DAAM2_uc010jxc.2_Missense_Mutation_p.A2T|DAAM2_uc003oox.2_Missense_Mutation_p.A2T|DAAM2_uc003oov.3_Missense_Mutation_p.A2T|DAAM2_uc003ooy.3_Missense_Mutation_p.A2T	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	2					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTGACCATGGCCCCCCGCAA	0.607													A	39824082	G	A	39824082	3	1	191	1	0	0	0	0	1	0	0	0	4216	1203	42	2	6	2	DAAM2	6	39824082	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	847433	39824082	131290985	685	103705											
LRFN2	57497	broad.mit.edu	37	chr6	40360464	40360464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggatcatggtgccgcccaGaatctggctgtgcatggact	13	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:40360464G>A	uc003oph.1	-	3	2053	c.1588C>T	c.(1588-1590)CTG>TTG	p.L530L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	530	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGCCGCCCAGAATCTGGCTG	0.602													A	40360464	G	A	40360464	2	1	191	1	0	0	0	0	0	0	0	1	8938	933	33	4		4	LRFN2	6	40360464	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	536382	40360464	130754603	686	103706											
LRFN2	57497	broad.mit.edu	37	chr6	40400212	40400212	+	Frame_Shift_Del	DEL	G	G	-													agcgggcaaagatgggatcaGggggcagcttctgcagccga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:40400211_40400211AG>A	uc003oph.1	-	1	1107	c.642_642CT>T	c.(640-642)cctfs	p.P214fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	214						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)					AGATGGGATCAGGGGGCAGCT	0.582													-	40400212	G	-	40400212	7	5	191	1	0	1	0	1	0	0	0	0	8938	1000	35	0	1736	0	LRFN2	6	40400212	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	39748	40400212	130714855	687	103707											
APOBEC2	10930	broad.mit.edu	37	chr6	41029581	41029583	+	In_Frame_Del	DEL	GAG	GAG	-													aggagaacttcctatactacGaggagaagttggcagacatc					rs150558136		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41029580_41029582CGAG>C	uc003opl.3	+	1	792_794	c.645_647CGAG>C	c.(643-648)tacgag>taCg	p.E217del	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	217					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCTATACTACGAGGAGAAGTTG	0.483													-	41029583	GAG	-	41029581	7	5	191	1	0	1	0	1	0	0	0	0	788	1059	37	0	652	0	APOBEC2	6	41029581	In_Frame_Del	DEL	GAG	TCGA-CG-5723-01A-11D-1600-08	629369	41029581	130085486	688	103708											
FOXP4	116113	broad.mit.edu	37	chr6	41533592	41533592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagccgatggcagcagcGgcggggccacagggacaact	17	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41533592G>A	uc003oql.2	+	2	552	c.94G>A	c.(94-96)GGC>AGC	p.G32S	FOXP4_uc003oqm.2_Missense_Mutation_p.G32S|FOXP4_uc003oqn.2_Missense_Mutation_p.G32S	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	32					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGCAGCAGCGGCGGGGCCAC	0.622													A	41533592	G	A	41533592	3	1	191	1	0	0	0	0	1	0	0	0	6029	1116	39	1	96	1	FOXP4	6	41533592	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	504011	41533592	129581475	689	103709											
MDFI	4188	broad.mit.edu	37	chr6	41613956	41613956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagggctccctggaggagGcggcaacccccatgccccaa	14	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41613956G>A	uc003oqp.3	+	4	498	c.169G>A	c.(169-171)GCG>ACG	p.A57T	MDFI_uc003oqq.3_Missense_Mutation_p.A57T|MDFI_uc010jxn.2_Missense_Mutation_p.A57T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	57					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					0	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)			CCTGGAGGAGGCGGCAACCCC	0.632													A	41613956	G	A	41613956	3	1	191	1	0	0	0	0	1	0	0	0	9404	1203	42	2	175	2	MDFI	6	41613956	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	80364	41613956	129501111	690	103710											
PRICKLE4	29964	broad.mit.edu	37	chr6	41752759	41752759	+	Frame_Shift_Del	DEL	G	G	-													aagcaggaagccctgggacaGggggtagcccgcctggtact							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41752758_41752758AG>A	uc011duf.1	+	4	574	c.326_326AG>A	c.(325-327)cagfs	p.Q109fs	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	69	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCTGGGACAGGGGGTAGCC	0.617													-	41752759	G	-	41752759	7	5	191	1	0	1	0	1	0	0	0	0	12489	991	35	0	337	0	PRICKLE4	6	41752759	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	138803	41752759	129362308	691	103711											
USP49	25862	broad.mit.edu	37	chr6	41773695	41773695	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccttgttctggatgagctCcagactccgactaatggagg	11	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41773695C>A	uc003ori.2	-	4	1249	c.1027G>T	c.(1027-1029)GAG>TAG	p.E343*		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	343					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			TGGATGAGCTCCAGACTCCGA	0.602													A	41773695	C	A	41773695	4	1	191	1	0	0	0	0	0	1	0	0	17077	864	30	5	911	5	USP49	6	41773695	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	20936	41773695	129341372	692	103712											
TRERF1	55809	broad.mit.edu	37	chr6	42227276	42227276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtccccgaggacgcgCggggagcgcagctggctctg	19	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:42227276C>T	uc003osd.2	-	9	2633	c.2070G>A	c.(2068-2070)CCG>CCA	p.P690P	TRERF1_uc011duq.1_Silent_p.P607P|TRERF1_uc003osb.2_Silent_p.P446P|TRERF1_uc003osc.2_Silent_p.P446P|TRERF1_uc003ose.2_Silent_p.P710P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	690	Pro-rich.|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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGAGGACGCGCGGGGAGCGCA	0.726													T	42227276	C	T	42227276	2	4	191	1	0	0	0	0	0	0	0	1	16472	755	27	1		1	TRERF1	6	42227276	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	453581	42227276	128887791	693	103713											
PRPH2	5961	broad.mit.edu	37	chr6	42689868	42689868	+	Frame_Shift_Del	DEL	C	C	-													gttgaagacacaggatagcaCccccatccctatcaatgagt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:42689867_42689867AC>A	uc003osk.3	-	0	492	c.206_206GT>T	c.(205-207)gtgfs	p.V69fs		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	69					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			ACAGGATAGCACCCCCATCCC	0.527													-	42689868	C	-	42689868	7	5	191	1	0	1	0	1	0	0	0	0	12577	507	18	0	847	0	PRPH2	6	42689868	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	462592	42689868	128425199	694	103714											
KIAA0240	23506	broad.mit.edu	37	chr6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-													ctgcagaaggaaacatttctAaaaaaacagaatgccttggc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:42832626_42832626TA>T	uc003osn.1	+	12	2833	c.2682_2682TA>T	c.(2680-2682)tctfs	p.S894fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	894										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GAAACATTTCTAAAAAAACAG	0.493													-	42832627	A	-	42832627	7	5	191	1	0	1	0	1	0	0	0	0	8164	363	13	0	2725	0	KIAA0240	6	42832627	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	142759	42832627	128282440	695	103715											
CUL7	9820	broad.mit.edu	37	chr6	43010580	43010580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcagcaaggctcccGcacagccattttgcagcgcc	11	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:43010580G>A	uc003otq.2	-	19	3908	c.3605C>T	c.(3604-3606)GCG>GTG	p.A1202V	CUL7_uc010jyg.2_Missense_Mutation_p.A481V|CUL7_uc011dvb.1_Missense_Mutation_p.A1286V|CUL7_uc010jyh.2_Missense_Mutation_p.A195V|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1202					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			CAAGGCTCCCGCACAGCCATT	0.547													A	43010580	G	A	43010580	3	1	191	1	0	0	0	0	1	0	0	0	4060	1087	38	1	1523	1	CUL7	6	43010580	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	177953	43010580	128104487	696	103716											
TTBK1	84630	broad.mit.edu	37	chr6	43222808	43222808	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggaatgtggccgggtttCgaggaacggttcgctatgcc	15	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:43222808C>T	uc003ouq.1	+	7	877	c.598C>T	c.(598-600)CGA>TGA	p.R200*		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	200	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGGGTTTCGAGGAACGGT	0.607													T	43222808	C	T	43222808	4	4	191	1	0	0	0	0	0	1	0	0	16673	876	31	1	620	1	TTBK1	6	43222808	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	212228	43222808	127892259	697	103717											
RSPH9	221421	broad.mit.edu	37	chr6	43612906	43612906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcctcagcccggaccGtcgggcctcgctgctcacgt	14	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:43612906G>A	uc003ovw.1	+	1	97	c.71G>A	c.(70-72)CGT>CAT	p.R24H	RSPH9_uc003ovx.1_Missense_Mutation_p.R24H	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	24					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						AGCCCGGACCGTCGGGCCTCG	0.662									Kartagener_syndrome				A	43612906	G	A	43612906	3	1	191	1	0	0	0	0	1	0	0	0	13708	1145	40	1	73	1	RSPH9	6	43612906	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	390098	43612906	127502161	698	103718											
SLC29A1	2030	broad.mit.edu	37	chr6	44198398	44198398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttacctgggcctgccccGcctggtgagtaaatggaggg	15	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:44198398G>A	uc003owu.1	+	7	1012	c.683G>A	c.(682-684)CGC>CAC	p.R228H	SLC29A1_uc003owv.1_Missense_Mutation_p.R228H|SLC29A1_uc003oww.1_Missense_Mutation_p.R307H|SLC29A1_uc003owx.1_Missense_Mutation_p.R228H|SLC29A1_uc003owy.1_Missense_Mutation_p.R228H|SLC29A1_uc003owz.1_Missense_Mutation_p.R228H	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	228	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	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)	GGCCTGCCCCGCCTGGTGAGT	0.557													A	44198398	G	A	44198398	3	1	191	1	0	0	0	0	1	0	0	0	14534	1087	38	1	705	1	SLC29A1	6	44198398	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	585492	44198398	126916669	699	103719											
CRISP1	167	broad.mit.edu	37	chr6	49825053	49825053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccctcacatactttcaTggacaacataggcagtaagc	6	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:49825053T>C	uc003ozw.2	-	2	140	c.61A>G	c.(61-63)ATG>GTG	p.M21V	CRISP1_uc003ozx.2_Missense_Mutation_p.M21V	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	21					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					CATACTTTCATGGACAACATA	0.244													C	49825053	T	C	49825053	3	2	191	1	0	0	0	0	1	0	0	0	3879	1464	51	3	716	3	CRISP1	6	49825053	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	5626655	49825053	121290014	700	103720											
PKHD1	5314	broad.mit.edu	37	chr6	51892954	51892954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcaagtggtcacctcacCcttgtgagtgaatgctgacc	10	11	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:51892954C>T	uc003pah.1	-	30	3836	c.3560G>A	c.(3559-3561)GGG>GAG	p.G1187E	PKHD1_uc003pai.2_Missense_Mutation_p.G1187E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1187	Extracellular (Potential).|IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTCACCTCACCCTTGTGAGTG	0.468													T	51892954	C	T	51892954	3	4	191	1	0	0	0	0	1	0	0	0	11971	637	22	4	8855	4	PKHD1	6	51892954	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2067901	51892954	119222113	701	103721											
ICK	22858	broad.mit.edu	37	chr6	52883237	52883237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgatgcagcccaccGcccagacgtcaatgggggag	13	14	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:52883237G>A	uc003pbh.2	-	8	1044	c.554C>T	c.(553-555)GCG>GTG	p.A185V	ICK_uc003pbi.2_Missense_Mutation_p.A185V|ICK_uc003pbj.2_Missense_Mutation_p.A185V	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	185	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.A185A(1)		ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					GCAGCCCACCGCCCAGACGTC	0.512													A	52883237	G	A	52883237	3	1	191	1	0	0	0	0	1	0	0	0	7484	1087	38	1	1376	1	ICK	6	52883237	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	990283	52883237	118231830	702	103722											
COL21A1	81578	broad.mit.edu	37	chr6	56047377	56047377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaattctgaagaagcaGcaccaaaaccatgcagagaa	8	10	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56047377G>A	uc003pcs.2	-	2	272	c.40C>T	c.(40-42)CTG>TTG	p.L14L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Silent_p.L14L|COL21A1_uc003pcu.1_Silent_p.L14L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	14					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGAAGAAGCAGCACCAAAACC	0.353													A	56047377	G	A	56047377	2	1	191	1	0	0	0	0	0	0	0	1	3680	962	34	2		2	COL21A1	6	56047377	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3164140	56047377	115067690	703	103723											
DST	667	broad.mit.edu	37	chr6	56382024	56382024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcttttcctcttcactgCatgcggtcatgattttatgc	7	10	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56382024C>T	uc003pdf.2	-	65	12000	c.11972G>A	c.(11971-11973)TGC>TAC	p.C3991Y	DST_uc003pcz.3_Missense_Mutation_p.C3813Y|DST_uc011dxj.1_Missense_Mutation_p.C3842Y|DST_uc011dxk.1_Missense_Mutation_p.C3853Y|DST_uc003pcy.3_Missense_Mutation_p.C3487Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5899	Spectrin 10.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTTCACTGCATGCGGTCAT	0.388													T	56382024	C	T	56382024	3	4	191	1	0	0	0	0	1	0	0	0	4783	710	25	2	5187	2	DST	6	56382024	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	334647	56382024	114733043	704	103724											
DST	667	broad.mit.edu	37	chr6	56489995	56489995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaactctgcattcttcggCgtttcactggagatttttgt	9	9	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56489995C>T	uc003pdf.2	-	34	4719	c.4691G>A	c.(4690-4692)CGC>CAC	p.R1564H	DST_uc003pcz.3_Missense_Mutation_p.R1386H|DST_uc011dxj.1_Missense_Mutation_p.R1415H|DST_uc011dxk.1_Missense_Mutation_p.R1426H|DST_uc003pcy.3_Missense_Mutation_p.R1060H|DST_uc003pdb.2_Missense_Mutation_p.R1060H|DST_uc003pdc.3_Missense_Mutation_p.R1060H|DST_uc003pdd.3_Missense_Mutation_p.R1060H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1386	Nuclear localization signal; in isoform 6 (By similarity).				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATTCTTCGGCGTTTCACTGG	0.363													T	56489995	C	T	56489995	3	4	191	1	0	0	0	0	1	0	0	0	4783	768	27	1	17232	1	DST	6	56489995	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	107971	56489995	114625072	705	103725											
DST	667	broad.mit.edu	37	chr6	56501366	56501366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacatacctcgaaatacgCtgtgttctcctttatgtgct	6	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56501366C>T	uc003pdf.2	-	22	2978	c.2950G>A	c.(2950-2952)GCG>ACG	p.A984T	DST_uc003pcz.3_Missense_Mutation_p.A806T|DST_uc011dxj.1_Missense_Mutation_p.A835T|DST_uc011dxk.1_Missense_Mutation_p.A846T|DST_uc003pcy.3_Missense_Mutation_p.A480T|DST_uc003pdb.2_Missense_Mutation_p.A480T|DST_uc003pdc.3_Missense_Mutation_p.A480T|DST_uc003pdd.3_Missense_Mutation_p.A480T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	806					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGAAATACGCTGTGTTCTCC	0.408													T	56501366	C	T	56501366	3	4	191	1	0	0	0	0	1	0	0	0	4783	797	28	2	19021	2	DST	6	56501366	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	11371	56501366	114613701	706	103726											
KIAA1586	57691	broad.mit.edu	37	chr6	56917509	56917509	+	Missense_Mutation	SNP	G	G	A													gtttcctaaaatgccaaaacGacagggtgattttttgcatt					rs147392367		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56917509G>A	uc003pdj.2	+	4	382	c.212G>A	c.(211-213)CGA>CAA	p.R71Q	KIAA1586_uc011dxm.1_Missense_Mutation_p.R44Q	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	71							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGCCAAAACGACAGGGTGAT	0.303													A	56917509	G	A	56917509	3	1	191	1	0	0	0	0	1	0	0	0	8245	1058	37	1	226	1	KIAA1586	6	56917509	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	416143	56917509	114197558	707	103727	498	2									
KIAA1586	57691	broad.mit.edu	37	chr6	56917519	56917519	+	Frame_Shift_Del	DEL	T	T	-													atgccaaaacgacagggtgaTtttttgcattttttaaatgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56917518_56917518AT>A	uc003pdj.3	+	3	391	c.221_221AT>A	c.(220-222)gatfs	p.D74fs	KIAA1586_uc011dxm.2_Frame_Shift_Del_p.D47fs	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	74							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CGACAGGGTGATTTTTTGCAT	0.308													-	56917519	T	-	56917519	7	5	191	1	0	1	0	1	0	0	0	0	8245	1490	52	0	236	0	KIAA1586	6	56917519	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	10	56917519	114197548	708	103728	498	2									
PHF3	23469	broad.mit.edu	37	chr6	64423498	64423500	+	In_Frame_Del	DEL	AGA	AGA	-													acctaaaagtgaagactatgAgaaggacaaagaacgagaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:64423497_64423499GAGA>G	uc003pep.1	+	14	6038_6040	c.6013_6015GAGA>G	c.(6013-6015)gag>G	p.E2005del	PHF3_uc003pen.2_In_Frame_Del_p.E1917del|PHF3_uc011dxs.1_In_Frame_Del_p.E1274del	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	2005					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)			TGAAGACTATGAGAAGGACAAAG	0.419													-	64423500	AGA	-	64423498	7	5	191	1	0	1	0	1	0	0	0	0	11836	304	11	0	6072	0	PHF3	6	64423498	In_Frame_Del	DEL	AGA	TCGA-CG-5723-01A-11D-1600-08	7505979	64423498	106691569	709	103729											
COL9A1	1297	broad.mit.edu	37	chr6	70944498	70944498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgcccaccactcaccGgagggccctggacaccaggc	12	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:70944498G>A	uc003pfg.3	-	34	2417	c.2258C>T	c.(2257-2259)CCG>CTG	p.P753L	COL9A1_uc003pfe.3_Missense_Mutation_p.P302L|COL9A1_uc003pff.3_Missense_Mutation_p.P510L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	753	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						ACCACTCACCGGAGGGCCCTG	0.612													A	70944498	G	A	70944498	3	1	191	1	0	0	0	0	1	0	0	0	3707	1130	39	1	527	1	COL9A1	6	70944498	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6521000	70944498	100170569	710	103730											
COL9A1	1297	broad.mit.edu	37	chr6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-													catcgatgcctggaactccaGgggggcccggaggcccggga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:70991120_70991120AG>A	uc003pfg.4	-	7	1008	c.849_849CT>T	c.(847-849)cctfs	p.P283fs	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Frame_Shift_Del_p.P40fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGGAACTCCAGGGGGGCCCG	0.597													-	70991121	G	-	70991121	7	5	191	1	0	1	0	1	0	0	0	0	3707	1000	35	0	2041	0	COL9A1	6	70991121	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	46623	70991121	100123946	711	103731											
OGFRL1	79627	broad.mit.edu	37	chr6	72011140	72011140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttaaaagccttggtgaGcttggatatgaaagttttaa	9	4	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:72011140G>A	uc003pfx.1	+	7	907	c.744G>A	c.(742-744)GAG>GAA	p.E248E		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	248						membrane	receptor activity				0						GCCTTGGTGAGCTTGGATATG	0.373													A	72011140	G	A	72011140	2	1	191	1	0	0	0	0	0	0	0	1	10844	962	34	2		2	OGFRL1	6	72011140	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1020019	72011140	99103927	712	103732											
COL12A1	1303	broad.mit.edu	37	chr6	75875263	75875263	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaggttctccttctccActgctgtaagtggcaaatac	8	11	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:75875263A>G	uc003phs.2	-	14	3109	c.2943T>C	c.(2941-2943)AGT>AGC	p.S981S	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	981	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTCCTTCTCCACTGCTGTAAG	0.438													G	75875263	A	G	75875263	2	3	191	1	0	0	0	0	0	0	0	1	3669	156	6	3		3	COL12A1	6	75875263	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3864123	75875263	95239804	713	103733											
COL12A1	1303	broad.mit.edu	37	chr6	75899298	75899298	+	Frame_Shift_Del	DEL	T	T	-													gttgccacctttatatggaaTtttttttattgcagcaagaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:75899297_75899297AT>A	uc021zbv.1	-	4	664	c.629_629AT>T	c.(628-630)attfs	p.I210fs	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.I210fs|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	210	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTATATGGAATTTTTTTTAT	0.323													-	75899298	T	-	75899298	7	5	191	1	0	1	0	1	0	0	0	0	3669	1493	52	0	8807	0	COL12A1	6	75899298	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	24035	75899298	95215769	714	103734											
TMEM30A	55754	broad.mit.edu	37	chr6	75968604	75968604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaggtaatgctgcagtacGcatccaaacaataaaatcct	7	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:75968604G>A	uc003phw.2	-	6	1062	c.784C>T	c.(784-786)CGT>TGT	p.R262C	TMEM30A_uc003phx.2_Missense_Mutation_p.R226C	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	262						integral to membrane					0						GCTGCAGTACGCATCCAAACA	0.383													A	75968604	G	A	75968604	3	1	191	1	0	0	0	0	1	0	0	0	16150	1087	38	1	309	1	TMEM30A	6	75968604	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	69306	75968604	95146463	715	103735											
SENP6	26054	broad.mit.edu	37	chr6	76425219	76425219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctacaggaagatcagaGcaaagagaaaagaaagcata	11	5	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:76425219G>T	uc003pid.3	+	24	3867	c.3248G>T	c.(3247-3249)AGC>ATC	p.S1083I	SENP6_uc003pie.3_Missense_Mutation_p.S1076I|SENP6_uc010kbf.2_RNA	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	1083	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				GAAGATCAGAGCAAAGAGAAA	0.383													T	76425219	G	T	76425219	3	4	191	1	0	0	0	0	1	0	0	0	14050	971	34	5	3342	5	SENP6	6	76425219	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	456615	76425219	94689848	716	103736											
MYO6	4646	broad.mit.edu	37	chr6	76623846	76623846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatgaaccgacagcaacGcttcttccgcatcccattca	6	14	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:76623846G>A	uc003pih.1	+	34	3785	c.3506G>A	c.(3505-3507)CGC>CAC	p.R1169H	MYO6_uc003pii.1_Missense_Mutation_p.R1146H|MYO6_uc003pij.1_Missense_Mutation_p.R117H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1178					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			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CGACAGCAACGCTTCTTCCGC	0.498													A	76623846	G	A	76623846	3	1	191	1	0	0	0	0	1	0	0	0	10081	1087	38	1	3636	1	MYO6	6	76623846	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	198627	76623846	94491221	717	103737											
MYO6	4646	broad.mit.edu	37	chr6	76624589	76624589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactggcctgactcggaagCgtggtgctgagatcttgcca	14	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:76624589C>T	uc003pih.1	+	35	3997	c.3718C>T	c.(3718-3720)CGT>TGT	p.R1240C	MYO6_uc003pii.1_Missense_Mutation_p.R1217C|MYO6_uc003pij.1_Missense_Mutation_p.R188C	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1249					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			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GACTCGGAAGCGTGGTGCTGA	0.493													T	76624589	C	T	76624589	3	4	191	1	0	0	0	0	1	0	0	0	10081	768	27	1	3852	1	MYO6	6	76624589	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	743	76624589	94490478	718	103738											
IBTK	25998	broad.mit.edu	37	chr6	82933262	82933262	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccaaagacagagcaAtgtctttatggtgaagggca	11	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:82933262A>C	uc003pjl.1	-	8	1546	c.1019T>G	c.(1018-1020)ATT>AGT	p.I340S	IBTK_uc011dyv.1_Missense_Mutation_p.I340S|IBTK_uc011dyw.1_Missense_Mutation_p.I340S|IBTK_uc010kbi.1_Missense_Mutation_p.I34S|IBTK_uc003pjm.2_Missense_Mutation_p.I340S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	340					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		AGACAGAGCAATGTCTTTATG	0.423													C	82933262	A	C	82933262	3	2	191	1	0	0	0	0	1	0	0	0	7476	101	4	5	3130	5	IBTK	6	82933262	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	6308673	82933262	88181805	719	103739											
KIAA1009	22832	broad.mit.edu	37	chr6	84870551	84870551	+	Frame_Shift_Del	DEL	T	T	-													ttgtcgctccagatcctgaaTttttttggcatctgctgctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:84870550_84870550AT>A	uc010kbp.3	-	20	2859	c.2762_2762AT>T	c.(2761-2763)attfs	p.I921fs	KIAA1009_uc003pkj.4_Frame_Shift_Del_p.I845fs|KIAA1009_uc003pki.4_Frame_Shift_Del_p.I307fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	921					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)		CAGATCCTGAATTTTTTTGGC	0.353													-	84870551	T	-	84870551	7	5	191	1	0	1	0	1	0	0	0	0	8203	1493	52	0	1478	0	KIAA1009	6	84870551	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1937289	84870551	86244516	720	103740											
SNX14	57231	broad.mit.edu	37	chr6	86223616	86223616	+	Splice_Site	DEL	A	A	-													tttcacagaatatagcatctAaaaaagagtaaaaagaaata							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:86223615_86223615TA>T	uc003pkr.3	-	26	2751	c.2558_splice	c.e26-1	p.D853_splice	SNX14_uc003pkp.3_Splice_Site_p.D716_splice|SNX14_uc003pkq.3_Splice_Site_p.D459_splice|SNX14_uc011dzg.2_Splice_Site_p.D801_splice|SNX14_uc003pks.3_Splice_Site_p.D800_splice|SNX14_uc003pkt.3_Splice_Site_p.D844_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	853					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)		ATATAGCATCTAAAAAAGAGT	0.308													-	86223616	A	-	86223616	8	5	191	1	0	1	0	1	0	0	1	0	14885	377	13	0		0	SNX14	6	86223616	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1353065	86223616	84891451	721	103741											
C6orf165	154313	broad.mit.edu	37	chr6	88136278	88136278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctcaagaagtggaaaTgatgacaaaacagttaggag	13	4	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:88136278T>C	uc003plv.2	+	8	967	c.875T>C	c.(874-876)ATG>ACG	p.M292T	C6orf165_uc003plw.2_Missense_Mutation_p.M104T|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.M292T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	292										central_nervous_system(1)	1		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)		GAAGTGGAAATGATGACAAAA	0.308													C	88136278	T	C	88136278	3	2	191	1	0	0	0	0	1	0	0	0	2341	1464	51	3	901	3	C6orf165	6	88136278	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1912662	88136278	82978789	722	103742											
SPACA1	81833	broad.mit.edu	37	chr6	88775920	88775921	+	Frame_Shift_Ins	INS	-	-	G													gcagcagtcaaggctttctgINSgggggcaaaagcctctacac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:88775919_88775920T>TG	uc003pmn.3	+	6	868_869	c.751_752T>TG	c.(751-753)tggfs	p.W251fs		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	251						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)		CAAGGCTTTCTGGGGGGCAAAA	0.396													G	88775921	-	G	88775920	7	5	191	1	0	1	1	0	0	0	0	0	14972	1357	47	0	778	0	SPACA1	6	88775920	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	639642	88775920	82339147	723	103743											
CNR1	1268	broad.mit.edu	37	chr6	88854388	88854388	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaacaggctgcccacggaGgcagtgaaggaggccgtgac	17	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:88854388G>T	uc011dzq.1	-	2	4169	c.606C>A	c.(604-606)GCC>GCA	p.A202A	CNR1_uc010kbz.2_Silent_p.A202A|CNR1_uc011dzr.1_Silent_p.A202A|CNR1_uc011dzs.1_Silent_p.A202A|CNR1_uc003pmq.3_Silent_p.A202A|CNR1_uc011dzt.1_Silent_p.A202A|CNR1_uc010kca.2_Silent_p.A169A	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	202	Helical; Name=3; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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)	TGCCCACGGAGGCAGTGAAGG	0.552													T	88854388	G	T	88854388	2	4	191	1	0	0	0	0	0	0	0	1	3631	987	35	5		5	CNR1	6	88854388	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	78468	88854388	82260679	724	103744											
FBXL4	26235	broad.mit.edu	37	chr6	99374939	99374939	+	Splice_Site	DEL	A	A	-													aactctttgaaggatgttctAaaaaaatgaatggcttggtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:99374938_99374938TA>T	uc003ppf.1	-	3	287	c.-71_splice	c.e3-1		FBXL4_uc003ppg.1_Splice_Site|FBXL4_uc003pph.1_Splice_Site	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.						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)		AAGGATGTTCTAAAAAAATGA	0.358													-	99374939	A	-	99374939	8	5	191	1	0	1	0	1	0	0	1	0	5721	377	13	0		0	FBXL4	6	99374939	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	10520551	99374939	71740128	725	103745											
USP45	85015	broad.mit.edu	37	chr6	99956514	99956514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacttgaggcacaaccaaAtatcagaagtaagtactagc	7	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:99956514A>C	uc003ppx.2	-	3	778	c.245T>G	c.(244-246)ATT>AGT	p.I82S	USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.I82S|USP45_uc003ppz.2_Missense_Mutation_p.I82S|USP45_uc003pqa.2_Missense_Mutation_p.I82S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	82	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		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)		GCACAACCAAATATCAGAAGT	0.363													C	99956514	A	C	99956514	3	2	191	1	0	0	0	0	1	0	0	0	17073	101	4	5	2263	5	USP45	6	99956514	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	581575	99956514	71158553	726	103746											
SIM1	6492	broad.mit.edu	37	chr6	100838779	100838779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagttggtctgagggggCtttccttagctgtaatctgt	13	8	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:100838779C>T	uc003pqj.3	-	11	1966	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T	SIM1_uc010kcu.2_Missense_Mutation_p.A587T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	587	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		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)		TCTGAGGGGGCTTTCCTTAGC	0.453													T	100838779	C	T	100838779	3	4	191	1	0	0	0	0	1	0	0	0	14323	797	28	2	545	2	SIM1	6	100838779	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	882265	100838779	70276288	727	103747											
ASCC3	10973	broad.mit.edu	37	chr6	101037604	101037604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaaatagtaataggagGcaattcggccataagttaga	10	6	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:101037604G>A	uc003pqk.2	-	36	5785	c.5456C>T	c.(5455-5457)GCC>GTC	p.A1819V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1819	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		GTAATAGGAGGCAATTCGGCC	0.343													A	101037604	G	A	101037604	3	1	191	1	0	0	0	0	1	0	0	0	1033	1203	42	2	1180	2	ASCC3	6	101037604	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	198825	101037604	70077463	728	103748											
ASCC3	10973	broad.mit.edu	37	chr6	101315870	101315870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgagacgaggtaaagCcatctattattcaatcagtg	9	8	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:101315870C>A	uc003pqk.2	-	2	333	c.4G>T	c.(4-6)GCT>TCT	p.A2S	ASCC3_uc011eai.1_5'UTR|ASCC3_uc003pql.2_Missense_Mutation_p.A2S|ASCC3_uc010kcv.2_Missense_Mutation_p.A2S|ASCC3_uc003pqm.2_Missense_Mutation_p.A2S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		CGAGGTAAAGCCATCTATTAT	0.373													A	101315870	C	A	101315870	3	1	191	1	0	0	0	0	1	0	0	0	1033	739	26	5	6867	5	ASCC3	6	101315870	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	278266	101315870	69799197	729	103749											
BEND3	57673	broad.mit.edu	37	chr6	107390422	107390422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccggcacgtggaccttgCgctgctgctggtaggagcgc	17	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:107390422C>T	uc003prs.2	-	5	2623	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	658										ovary(3)	3						GTGGACCTTGCGCTGCTGCTG	0.657													T	107390422	C	T	107390422	3	4	191	1	0	0	0	0	1	0	0	0	1399	768	27	1	517	1	BEND3	6	107390422	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6074552	107390422	63724645	730	103750											
SOBP	55084	broad.mit.edu	37	chr6	107908293	107908293	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcccttcaggctagagatGaagatggacatgctgaaaat	10	7	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:107908293G>T	uc003prx.2	+	5	1087	c.583G>T	c.(583-585)GAA>TAA	p.E195*	SOBP_uc003prw.1_Nonsense_Mutation_p.E195*	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	195							metal ion binding			ovary(1)	1		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)		GGCTAGAGATGAAGATGGACA	0.373													T	107908293	G	T	107908293	4	4	191	1	0	0	0	0	0	1	0	0	14912	1291	45	5	601	5	SOBP	6	107908293	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	517871	107908293	63206774	731	103751											
SLC16A10	117247	broad.mit.edu	37	chr6	111498462	111498462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaatcatatttgcctgcgGctgctcctttgcataccagc	9	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:111498462G>T	uc003pus.2	+	3	711	c.536G>T	c.(535-537)GGC>GTC	p.G179V	SLC16A10_uc003pur.3_Missense_Mutation_p.G179V|SLC16A10_uc003put.2_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	179	Helical; (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		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)		TTTGCCTGCGGCTGCTCCTTT	0.453													T	111498462	G	T	111498462	3	4	191	1	0	0	0	0	1	0	0	0	14403	1203	42	5	546	5	SLC16A10	6	111498462	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3590169	111498462	59616605	732	103752											
REV3L	5980	broad.mit.edu	37	chr6	111697578	111697578	+	Frame_Shift_Del	DEL	A	A	-													ggaatatcttcttcataatcAaaaatactactttcacagga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:111697577_111697577CA>C	uc003puy.4	-	12	2322	c.1981_1981TG>G	c.(1981-1983)gatfs	p.D661fs	REV3L_uc003pux.4_Frame_Shift_Del_p.D583fs|REV3L_uc003puz.4_Frame_Shift_Del_p.D583fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	661					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)		TCTTCATAATCAAAAATACTA	0.323								DNA polymerases (catalytic subunits)					-	111697578	A	-	111697578	7	5	191	1	0	1	0	1	0	0	0	0	13240	127	5	0	7492	0	REV3L	6	111697578	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	199116	111697578	59417489	733	103753											
RFX6	222546	broad.mit.edu	37	chr6	117237372	117237372	+	Frame_Shift_Del	DEL	T	T	-													ctctgcaactagatccagcaTtttttattacacttttggca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:117237371_117237371AT>A	uc003pxm.3	+	8	929	c.866_866AT>A	c.(865-867)catfs	p.H289fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	289					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.Q288R(1)|p.Q288H(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						TAGATCCAGCATTTTTTATTA	0.323													-	117237372	T	-	117237372	7	5	191	1	0	1	0	1	0	0	0	0	13267	1490	52	0	901	0	RFX6	6	117237372	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	5539794	117237372	53877695	734	103754											
ROS1	6098	broad.mit.edu	37	chr6	117706978	117706978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccacacaaaaacgtcGcctttcgtgtcactgtagta	8	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:117706978G>A	uc003pxp.1	-	15	2371	c.2172C>T	c.(2170-2172)GGC>GGT	p.G724G	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	724	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		CAAAAACGTCGCCTTTCGTGT	0.428			T	GOPC|ROS1	glioblastoma|NSCLC								A	117706978	G	A	117706978	2	1	191	1	0	0	0	0	0	0	0	1	13531	1074	38	1		1	ROS1	6	117706978	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	469606	117706978	53408089	735	103755											
DCBLD1	285761	broad.mit.edu	37	chr6	117860470	117860470	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacttttatgttaagagTtttgtgatgaacttcaaaaa	6	4	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:117860470T>C	uc003pxs.2	+	9	1154	c.1029T>C	c.(1027-1029)AGT>AGC	p.S343S	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.S343S|DCBLD1_uc003pxt.1_5'UTR	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	343	F5/8 type C.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ATGTTAAGAGTTTTGTGATGA	0.308													C	117860470	T	C	117860470	2	2	191	1	0	0	0	0	0	0	0	1	4280	1722	60	3		3	DCBLD1	6	117860470	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	153492	117860470	53254597	736	103756											
C6orf170	221322	broad.mit.edu	37	chr6	121412168	121412168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaattccaaaaacactggGttatccattgcaggcaaatc	7	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:121412168G>A	uc003pyo.1	-	31	3553	c.3485C>T	c.(3484-3486)ACC>ATC	p.T1162I		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	1162	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AAAACACTGGGTTATCCATTG	0.284													A	121412168	G	A	121412168	3	1	191	1	0	0	0	0	1	0	0	0	2344	1261	44	4	296	4	C6orf170	6	121412168	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3551698	121412168	49702899	737	103757											
HSF2	3298	broad.mit.edu	37	chr6	122743435	122743435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggatgttatatctgaTccctccaagtaaggagtttg	10	6	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:122743435T>C	uc003pyu.2	+	8	1009	c.822T>C	c.(820-822)GAT>GAC	p.D274D	HSF2_uc003pyv.2_Silent_p.D274D	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	274					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TTATATCTGATCCCTCCAAGT	0.284													C	122743435	T	C	122743435	2	2	191	1	0	0	0	0	0	0	0	1	7396	1432	50	3		3	HSF2	6	122743435	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1331267	122743435	48371632	738	103758											
C6orf174	387104	broad.mit.edu	37	chr6	127796999	127796999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacataagcacgcggttctcGtactgcagctgcatgacctt	10	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:127796999G>A	uc003qbd.2	-	6	3037	c.2172C>T	c.(2170-2172)TAC>TAT	p.Y724Y	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	724	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CGCGGTTCTCGTACTGCAGCT	0.677													A	127796999	G	A	127796999	2	1	191	1	0	0	0	0	0	0	0	1	2345	1140	40	1		1	C6orf174	6	127796999	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5053564	127796999	43318068	739	103759											
THEMIS	387357	broad.mit.edu	37	chr6	128134568	128134568	+	Frame_Shift_Del	DEL	T	T	-													caggccagaacattcaccacTttttttattccctcacagag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:128134567_128134567CT>C	uc011ebt.2	-	3	1368	c.1219_1219AG>G	c.(1219-1221)gtgfs	p.V407fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.V310fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V407fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V372fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	407	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	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						ACATTCACCACTTTTTTTATT	0.463													-	128134568	T	-	128134568	7	5	191	1	0	1	0	1	0	0	0	0	15857	1606	56	0	840	0	THEMIS	6	128134568	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	337569	128134568	42980499	740	103760											
PTPRK	5796	broad.mit.edu	37	chr6	128297891	128297891	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttggatggggccatatcGtagcatcccttcctctggcc	10	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:128297891G>A	uc003qbk.2	-	27	4244	c.3877C>T	c.(3877-3879)CGA>TGA	p.R1293*	PTPRK_uc003qbj.2_Nonsense_Mutation_p.R1294*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.R1300*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.R1316*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1293	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGCCATATCGTAGCATCCCT	0.388													A	128297891	G	A	128297891	4	1	191	1	0	0	0	0	0	1	0	0	12805	1153	40	1	458	1	PTPRK	6	128297891	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	163323	128297891	42817176	741	103761											
AKAP7	9465	broad.mit.edu	37	chr6	131602673	131602673	+	Frame_Shift_Del	DEL	A	A	-													tctattgtggaatgtaggtgAaaagaacggaggggagcccg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:131602672_131602672GA>G	uc003qck.3	+	7	931	c.787_787GA>G	c.(787-789)gaafs	p.E263fs	AKAP7_uc003qcm.2_Frame_Shift_Del_p.E41fs|AKAP7_uc003qcn.2_Frame_Shift_Del_p.E18fs	NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	41					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)		GAATGTAGGTGAAAAGAACGG	0.512													-	131602673	A	-	131602673	7	5	191	1	0	1	0	1	0	0	0	0	456	246	9	0	940	0	AKAP7	6	131602673	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	3304782	131602673	39512394	742	103762											
MED23	9439	broad.mit.edu	37	chr6	131914253	131914253	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggcagctgggttgggAaactcattgaatctccagtc	13	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:131914253A>T	uc003qcs.1	-	24	3465	c.3291T>A	c.(3289-3291)TTT>TTA	p.F1097L	MED23_uc003qcq.2_Missense_Mutation_p.F1103L|MED23_uc003qcr.1_5'UTR	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1097					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGGGTTGGGAAACTCATTGA	0.478													T	131914253	A	T	131914253	3	4	191	1	0	0	0	0	1	0	0	0	9441	243	9	5	846	5	MED23	6	131914253	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	311580	131914253	39200814	743	103763											
KIAA1244	57221	broad.mit.edu	37	chr6	138601240	138601240	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacaggaacatgcttggAgaggctggctattggggcag	16	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:138601240A>C	uc003qhu.2	+	14	2400	c.2400A>C	c.(2398-2400)GGA>GGC	p.G800G		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	800					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACATGCTTGGAGAGGCTGGCT	0.572													C	138601240	A	C	138601240	2	2	191	1	0	0	0	0	0	0	0	1	8217	291	11	5		5	KIAA1244	6	138601240	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	6686987	138601240	32513827	744	103764											
KIAA1244	57221	broad.mit.edu	37	chr6	138632618	138632618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagacctgtgcctcccgGccctggattacctcaggcgc	10	18	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:138632618G>A	uc003qhu.2	+	25	4171	c.4171G>A	c.(4171-4173)GCC>ACC	p.A1391T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1391					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGCCTCCCGGCCCTGGATTA	0.642													A	138632618	G	A	138632618	3	1	191	1	0	0	0	0	1	0	0	0	8217	1203	42	2	4269	2	KIAA1244	6	138632618	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	31378	138632618	32482449	745	103765											
STXBP5	134957	broad.mit.edu	37	chr6	147684582	147684582	+	Frame_Shift_Del	DEL	A	A	-													agagcacaatgttcctgaagAaaaagacgaaaaggagaaat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:147684581_147684581GA>G	uc003qlz.3	+	23	2831	c.2656_2656GA>G	c.(2656-2658)gaafs	p.E886fs	STXBP5_uc010khz.2_Frame_Shift_Del_p.E850fs|STXBP5_uc003qly.3_Frame_Shift_Del_p.E541fs	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	886					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)		TGTTCCTGAAGAAAAAGACGA	0.443													-	147684582	A	-	147684582	7	5	191	1	0	1	0	1	0	0	0	0	15355	246	9	0	2751	0	STXBP5	6	147684582	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	9051964	147684582	23430485	746	103766											
SASH1	23328	broad.mit.edu	37	chr6	148865429	148865429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcctggagctaaacaCggtttagcaaggacgcctct	10	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:148865429C>T	uc003qme.1	+	18	3298	c.2823C>T	c.(2821-2823)CAC>CAT	p.H941H	SASH1_uc011eeb.1_Silent_p.H702H|SASH1_uc003qmf.1_Silent_p.H351H	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	941							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGCTAAACACGGTTTAGCAA	0.557													T	148865429	C	T	148865429	2	4	191	1	0	0	0	0	0	0	0	1	13848	535	19	1		1	SASH1	6	148865429	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1180847	148865429	22249638	747	103767											
UST	10090	broad.mit.edu	37	chr6	149342593	149342593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcattacttcaagggcGtgctcagtatctacaaagac	7	11	4	1	rs141035429		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:149342593G>A	uc003qmg.2	+	7	1209	c.913G>A	c.(913-915)GTG>ATG	p.V305M		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	305	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CTTCAAGGGCGTGCTCAGTAT	0.463													A	149342593	G	A	149342593	3	1	191	1	0	0	0	0	1	0	0	0	17090	1145	40	1	939	1	UST	6	149342593	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	477164	149342593	21772474	748	103768											
C6orf97	80129	broad.mit.edu	37	chr6	151869460	151869460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagagacctgcgcaaagaaAatgaattcgtgaaaggacaa	10	6	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:151869460A>G	uc003qol.2	+	5	699	c.610A>G	c.(610-612)AAT>GAT	p.N204D		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	204	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GCGCAAAGAAAATGAATTCGT	0.368													G	151869460	A	G	151869460	3	3	191	1	0	0	0	0	1	0	0	0	2374	14	1	3	628	3	C6orf97	6	151869460	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2526867	151869460	19245607	749	103769											
NOX3	50508	broad.mit.edu	37	chr6	155776222	155776222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcataccagtagaaCgtgtcaataaacagataaaa	5	9	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:155776222C>T	uc003qqm.2	-	2	193	c.90G>A	c.(88-90)ACG>ACA	p.T30T		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	30	Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACCAGTAGAACGTGTCAATAA	0.328													T	155776222	C	T	155776222	2	4	191	1	0	0	0	0	0	0	0	1	10557	523	19	1		1	NOX3	6	155776222	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3906762	155776222	15338845	750	103770											
ARID1B	57492	broad.mit.edu	37	chr6	157522175	157522175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaacaggcagggccctggcGgccctacacaggcgccccct	13	17	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:157522175G>T	uc003qqn.2	+	18	4545	c.4393G>T	c.(4393-4395)GGC>TGC	p.G1465C	ARID1B_uc003qqo.2_Missense_Mutation_p.G1425C|ARID1B_uc003qqp.2_Missense_Mutation_p.G1412C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1470	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGGCCCTGGCGGCCCTACACA	0.592													T	157522175	G	T	157522175	3	4	191	1	0	0	0	0	1	0	0	0	914	1116	39	5	4517	5	ARID1B	6	157522175	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1745953	157522175	13592892	751	103771											
ZDHHC14	79683	broad.mit.edu	37	chr6	157803268	157803268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgacgctcgtcctcatccTggtcactagcggactcttct	8	16	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:157803268T>G	uc003qqt.2	+	1	712	c.215T>G	c.(214-216)CTG>CGG	p.L72R	ZDHHC14_uc003qqs.2_Missense_Mutation_p.L72R	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	72	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTCCTCATCCTGGTCACTAGC	0.627													G	157803268	T	G	157803268	3	3	191	1	0	0	0	0	1	0	0	0	17601	1580	55	5	217	5	ZDHHC14	6	157803268	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	281093	157803268	13311799	752	103772											
SYNJ2	8871	broad.mit.edu	37	chr6	158449969	158449969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggggtgttctatttctcAtggccaaacgatgggtctcg	13	9	3	0	rs140060886		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:158449969A>G	uc003qqx.1	+	3	471	c.396A>G	c.(394-396)TCA>TCG	p.S132S	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Silent_p.S132S|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Silent_p.S81S|SYNJ2_uc010kjo.1_Silent_p.S81S	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	132	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTATTTCTCATGGCCAAACG	0.542													G	158449969	A	G	158449969	2	3	191	1	0	0	0	0	0	0	0	1	15450	204	8	3		3	SYNJ2	6	158449969	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	646701	158449969	12665098	753	103773											
ACAT2	39	broad.mit.edu	37	chr6	160196216	160196216	+	Frame_Shift_Del	DEL	A	A	-													tcccagctgaaaatgtagccAaaaaatggcaagtgagtaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:160196215_160196215CA>C	uc010kjy.3	+	4	635	c.504_504CA>C	c.(502-504)gccfs	p.A168fs	ACAT2_uc011efw.2_Frame_Shift_Del_p.A197fs	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 2 (ACAT2), mRNA.	168						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)		AAAATGTAGCCAAAAAATGGC	0.423													-	160196216	A	-	160196216	7	5	191	1	0	1	0	1	0	0	0	0	122	131	5	0	523	0	ACAT2	6	160196216	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1746247	160196216	10918851	754	103774											
IGF2R	3482	broad.mit.edu	37	chr6	160412338	160412338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcacgacttgaagacacGcacttatcattcagtgggta	9	9	2	2	rs8191704		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:160412338G>A	uc003qta.2	+	2	420	c.272G>A	c.(271-273)CGC>CAC	p.R91H		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	91	1.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGAAGACACGCACTTATCAT	0.378													A	160412338	G	A	160412338	3	1	191	1	0	0	0	0	1	0	0	0	7576	1087	38	1	278	1	IGF2R	6	160412338	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	216122	160412338	10702729	755	103775											
LPA	4018	broad.mit.edu	37	chr6	161014990	161014990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaactcaaggttgtacCcatttggataatattctgtt	7	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:161014990C>T	uc003qtl.2	-	23	3749	c.3629G>A	c.(3628-3630)GGT>GAT	p.G1210D		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3718	Kringle 33.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	AAGGTTGTACCCATTTGGATA	0.443													T	161014990	C	T	161014990	3	4	191	1	0	0	0	0	1	0	0	0	8903	637	22	4	2565	4	LPA	6	161014990	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	602652	161014990	10100077	756	103776											
PLG	5340	broad.mit.edu	37	chr6	161134156	161134156	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgacattcttgagtgtgaAggtcaggagtggttctagaa	14	5	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:161134156A>C	uc003qtm.3	+	5	609	c.546A>C	c.(544-546)GAA>GAC	p.E182D		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	182					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			skin(3)|ovary(1)	4				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)	TTGAGTGTGAAGGTCAGGAGT	0.428													C	161134156	A	C	161134156	3	2	191	1	0	0	0	0	1	0	0	0	12086	86	3	5	568	5	PLG	6	161134156	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	119166	161134156	9980911	757	103777											
PLG	5340	broad.mit.edu	37	chr6	161159605	161159605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtggaggcaccttgatatCcccagagtgggtgttgactg	14	9	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:161159605C>T	uc003qtm.3	+	15	1901	c.1838C>T	c.(1837-1839)TCC>TTC	p.S613F		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	613	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			skin(3)|ovary(1)	4				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)	ACCTTGATATCCCCAGAGTGG	0.373													T	161159605	C	T	161159605	3	4	191	1	0	0	0	0	1	0	0	0	12086	855	30	4	1900	4	PLG	6	161159605	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	25449	161159605	9955462	758	103778											
QKI	9444	broad.mit.edu	37	chr6	163956101	163956101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagatgctcagaacagaGcagaaatcaaattgaagaga	11	5	2	6			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:163956101G>A	uc003qui.2	+	4	1041	c.490G>A	c.(490-492)GCA>ACA	p.A164T	QKI_uc003que.2_Missense_Mutation_p.A164T|QKI_uc003quf.2_Missense_Mutation_p.A164T|QKI_uc003qug.2_Missense_Mutation_p.A164T|QKI_uc003quh.2_Missense_Mutation_p.A164T|QKI_uc003quj.2_Missense_Mutation_p.A164T	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	164					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		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)		TCAGAACAGAGCAGAAATCAA	0.378													A	163956101	G	A	163956101	3	1	191	1	0	0	0	0	1	0	0	0	12873	971	34	2	504	2	QKI	6	163956101	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2796496	163956101	7158966	759	103779											
QKI	9444	broad.mit.edu	37	chr6	163984455	163984455	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgcttactgtagcagCccttgccttttctcttgcag	7	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:163984455C>G	uc003qui.2	+	6	1189	c.638C>G	c.(637-639)GCC>GGC	p.A213G	QKI_uc003que.2_Missense_Mutation_p.A213G|QKI_uc003quf.2_Missense_Mutation_p.A213G|QKI_uc003qug.2_Missense_Mutation_p.A213G|QKI_uc003quh.2_Intron|QKI_uc003quj.2_Intron	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	213					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		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)		ACTGTAGCAGCCCTTGCCTTT	0.483													G	163984455	C	G	163984455	3	3	191	1	0	0	0	0	1	0	0	0	12873	739	26	5	660	5	QKI	6	163984455	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	28354	163984455	7130612	760	103780											
QKI	9444	broad.mit.edu	37	chr6	163987788	163987788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcgaaggcacgatatgCgtgtccatccttaccaaagg	10	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:163987788C>T	uc003qui.2	+	7	1521	c.970C>T	c.(970-972)CGT>TGT	p.R324C	QKI_uc003que.2_3'UTR|QKI_uc003quf.2_3'UTR|QKI_uc003qug.2_3'UTR|QKI_uc003quh.2_3'UTR|QKI_uc003quj.2_Missense_Mutation_p.R316C	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	324	Nuclear localization signal (By similarity).				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		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)		GCACGATATGCGTGTCCATCC	0.413													T	163987788	C	T	163987788	3	4	191	1	0	0	0	0	1	0	0	0	12873	768	27	1	1100	1	QKI	6	163987788	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3333	163987788	7127279	761	103781											
T	6862	broad.mit.edu	37	chr6	166571818	166571818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcacatggaaggtggCgacacaggtgtccatgaggc	14	10	1	1	rs140876874		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:166571818C>T	uc003quu.1	-	9	1786	c.1293G>A	c.(1291-1293)TCG>TCA	p.S431S	T_uc003qut.1_Silent_p.S432S|T_uc003quv.1_Silent_p.S373S	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	431					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		TGGAAGGTGGCGACACAGGTG	0.612									Chordoma_Familial_Clustering_of				T	166571818	C	T	166571818	2	4	191	1	0	0	0	0	0	0	0	1	15485	755	27	1		1	T	6	166571818	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2584030	166571818	4543249	762	103782											
RNASET2	8635	broad.mit.edu	37	chr6	167352465	167352465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcatccacctgggcggCgcaggtcccatgcttttccc	12	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:167352465C>T	uc003qve.2	-	6	771	c.364G>A	c.(364-366)GCC>ACC	p.A122T	RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Missense_Mutation_p.A30T|RNASET2_uc003qvg.2_Missense_Mutation_p.A59T|RNASET2_uc003qvi.1_Silent_p.A9A	NM_003730	NP_003721	O00584	RNT2_HUMAN	ribonuclease T2 precursor	122					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding				0		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)		ACCTGGGCGGCGCAGGTCCCA	0.468													T	167352465	C	T	167352465	3	4	191	1	0	0	0	0	1	0	0	0	13418	768	27	1	422	1	RNASET2	6	167352465	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	780647	167352465	3762602	763	103783											
SMOC2	64094	broad.mit.edu	37	chr6	168949813	168949813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattttggttcatagatatTgcatcacgttaccctaccct	5	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:168949813T>C	uc003qws.1	+	7	587	c.567T>C	c.(565-567)ATT>ATC	p.I189I	SMOC2_uc003qwr.1_Silent_p.I200I	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	189					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TCATAGATATTGCATCACGTT	0.398													C	168949813	T	C	168949813	2	2	191	1	0	0	0	0	0	0	0	1	14802	1800	63	3		3	SMOC2	6	168949813	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1597348	168949813	2165254	764	103784											
PHF10	55274	broad.mit.edu	37	chr6	170117976	170117977	+	Frame_Shift_Del	DEL	TG	TG	-													tctcaggtagagtttctcctTgtgagacaaatctcgtcgct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:170117975_170117976TTG>T	uc011egy.2	-	3	431_432	c.352_353CAA>A	c.(352-354)aagfs	p.K118fs	PHF10_uc011egz.2_Frame_Shift_Del_p.K116fs|PHF10_uc011eha.1_5'Flank	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	118	Essential to induce neural progenitor proliferation (By similarity).|SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	p.K118fs*6(2)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GAGTTTCTCCTTGTGAGACAAA	0.322													-	170117977	TG	-	170117976	7	5	191	1	0	1	0	1	0	0	0	0	11821	1821	63	0	1180	0	PHF10	6	170117976	Frame_Shift_Del	DEL	TG	TCGA-CG-5723-01A-11D-1600-08	1168163	170117976	997091	765	103785											
DLL1	28514	broad.mit.edu	37	chr6	170592611	170592611	+	Frame_Shift_Del	DEL	C	C	-													gttgttcatggtctccgtctCcccccggcaggggtcggctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:170592610_170592610TC>T	uc003qxm.3	-	8	2227	c.1757_1757GA>A	c.(1756-1758)gagfs	p.E586fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	586					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding	p.G585G(1)		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)		GGTCTCCGTCTCCCCCCGGCA	0.632													-	170592611	C	-	170592611	7	5	191	1	0	1	0	1	0	0	0	0	4566	864	30	0	427	0	DLL1	6	170592611	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	474635	170592611	522456	766	103786											
DLL1	28514	broad.mit.edu	37	chr6	170597466	170597466	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtagtgttcgtcacacacGaagcggtaggagtacttgag	13	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:170597466G>A	uc003qxm.2	-	4	1001	c.531C>T	c.(529-531)TTC>TTT	p.F177F	DLL1_uc011ehc.1_Silent_p.F177F	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	177	Extracellular (Potential).|DSL.				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			lung(4)|ovary(1)	5		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)		CGTCACACACGAAGCGGTAGG	0.652													A	170597466	G	A	170597466	2	1	191	1	0	0	0	0	0	0	0	1	4566	1049	37	1		1	DLL1	6	170597466	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4855	170597466	517601	767	103787											
SUN1	23353	broad.mit.edu	37	chr7	881705	881705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcaggatgctgtgactcGacggcctcctgtattggacg	13	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:881705G>A	uc011jvp.1	+	4	468	c.389G>A	c.(388-390)CGA>CAA	p.R130Q	SUN1_uc010ksa.1_Missense_Mutation_p.R151Q|SUN1_uc003sje.1_Missense_Mutation_p.R130Q|SUN1_uc003sjf.2_Missense_Mutation_p.R80Q|SUN1_uc011jvq.1_Missense_Mutation_p.R130Q|SUN1_uc003sjg.2_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	130	Nuclear.|LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GCTGTGACTCGACGGCCTCCT	0.557													A	881705	G	A	881705	3	1	191	1	0	0	0	0	1	0	0	0	15388	1058	37	1	466	1	SUN1	7	881705	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08		881705	158256958	768	103788											
FTSJ2	29960	broad.mit.edu	37	chr7	2279097	2279097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgccacctgactccagGccccaggagctgccccacag	10	20	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:2279097G>A	uc003slm.2	-	2	283	c.254C>T	c.(253-255)GCC>GTC	p.A85V	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	85	S-adenosyl-L-methionine binding.				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CTGACTCCAGGCCCCAGGAGC	0.647													A	2279097	G	A	2279097	3	1	191	1	0	0	0	0	1	0	0	0	6088	1203	42	2	494	2	FTSJ2	7	2279097	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1397392	2279097	156859566	769	103789											
C7orf27	221927	broad.mit.edu	37	chr7	2594050	2594050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccgggagcagctgggCgcattctgggtccatggtga	18	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:2594050C>T	uc003smi.2	-	2	58	c.16G>A	c.(16-18)GCC>ACC	p.A6T	C7orf27_uc003smj.1_Missense_Mutation_p.A6T	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	6					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		AGCAGCTGGGCGCATTCTGGG	0.592													T	2594050	C	T	2594050	3	4	191	1	0	0	0	0	1	0	0	0	2382	768	27	1	2501	1	C7orf27	7	2594050	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	314953	2594050	156544613	770	103790											
ACTB	60	broad.mit.edu	37	chr7	5567738	5567738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacagcactgtgttggcgTacaggtctttgcggatgtcc	13	10	1	1	rs11546937		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:5567738T>C	uc003sos.3	-	4	917	c.881A>G	c.(880-882)TAC>TGC	p.Y294C	ACTB_uc003sor.3_Missense_Mutation_p.Y172C|ACTB_uc003sot.3_Missense_Mutation_p.Y294C|ACTB_uc003soq.3_Missense_Mutation_p.Y172C|ACTB_uc010ksy.2_Missense_Mutation_p.Y172C	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	294					'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				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTGTTGGCGTACAGGTCTTT	0.557													C	5567738	T	C	5567738	3	2	191	1	0	0	0	0	1	0	0	0	193	1638	57	3	254	3	ACTB	7	5567738	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2973688	5567738	153570925	771	103791											
PMS2	5395	broad.mit.edu	37	chr7	6037037	6037037	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagggggcagctgaacaaaAggaatgaggctttgcaactg	14	7	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:6037037A>C	uc003spl.2	-	7	810	c.723T>G	c.(721-723)CCT>CCG	p.P241P	PMS2_uc003spj.2_Silent_p.P135P|PMS2_uc003spk.2_Silent_p.P106P|PMS2_uc011jwl.1_Silent_p.P106P|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Silent_p.P241P|PMS2_uc010ktf.1_Silent_p.P241P	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	241					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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCTGAACAAAAGGAATGAGGC	0.383			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				C	6037037	A	C	6037037	2	2	191	1	0	0	0	0	0	0	0	1	12143	59	3	5		5	PMS2	7	6037037	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	469299	6037037	153101626	772	103792											
CYTH3	9265	broad.mit.edu	37	chr7	6210912	6210912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgatcaatcttctgcgcCtccccgggcagcctgaagct	10	15	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:6210912C>T	uc003spt.2	-	7	587	c.483G>A	c.(481-483)GAG>GAA	p.E161E	CYTH3_uc011jws.1_Silent_p.E76E	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	161	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				0						TCTTCTGCGCCTCCCCGGGCA	0.612													T	6210912	C	T	6210912	2	4	191	1	0	0	0	0	0	0	0	1	4205	680	24	4		4	CYTH3	7	6210912	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	173875	6210912	152927751	773	103793											
COL28A1	340267	broad.mit.edu	37	chr7	7557426	7557427	+	Splice_Site	INS	-	-	C													cattccagttgtgtacatacINSccctggacctctttctccag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:7557425_7557426A>AC	uc003src.1	-	7	972	c.855_splice	c.e7+1	p.G285_splice	COL28A1_uc011jxe.1_Splice_Site|COL28A1_uc003srd.3_Intron	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	285					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)		TTGTGTACATACCCCTGGACCT	0.436													C	7557427	-	C	7557426	8	5	191	1	0	1	1	0	0	0	1	0	3686	521	18	0	2637	0	COL28A1	7	7557426	Splice_Site	INS	-	TCGA-CG-5723-01A-11D-1600-08	1346514	7557426	151581237	774	103794											
THSD7A	221981	broad.mit.edu	37	chr7	11514198	11514198	+	Splice_Site	DEL	A	A	-													ttggacagcgaattccacctAaaaacatggacaatgatagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:11514197_11514197TA>T	uc021zzo.1	-	8	2270	c.2018_splice	c.e8-1	p.G673_splice	THSD7A_uc021zzn.1_Splice_Site_p.G673_splice	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	673	TSP type-1 6.					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)		GAATTCCACCTAAAAACATGG	0.433										HNSCC(18;0.044)			-	11514198	A	-	11514198	8	5	191	1	0	1	0	1	0	0	1	0	15876	377	13	0		0	THSD7A	7	11514198	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	3956772	11514198	147624465	775	103795											
ABCB5	340273	broad.mit.edu	37	chr7	20682919	20682920	+	Frame_Shift_Ins	INS	-	-	T													caagaggattcgaaaacagtINStttttcattcagttttggca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:20682918_20682919G>GT	uc010kuh.3	+	5	663_664	c.426_427G>GT	c.(424-429)cagtttfs	p.Q142fs		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	326	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCGAAAACAGTTTTTTCATTC	0.406													T	20682920	-	T	20682919	7	5	191	1	0	1	1	0	0	0	0	0	44	1725	60	0	445	0	ABCB5	7	20682919	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	9168721	20682919	138455744	776	103796											
KLHL7	55975	broad.mit.edu	37	chr7	23164385	23164385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgaacaactggtggaatTtgcttatactgctaggtgag	11	5	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:23164385T>C	uc003svs.3	+	3	595	c.302T>C	c.(301-303)TTT>TCT	p.F101S	KLHL7_uc003svr.3_Missense_Mutation_p.F79S|KLHL7_uc011jys.1_Missense_Mutation_p.F25S|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.F53S|KLHL7_uc003svp.2_Missense_Mutation_p.F79S|KLHL7_uc003svq.2_Missense_Mutation_p.F101S|KLHL7_uc011jyu.1_Missense_Mutation_p.F79S	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	101	BTB.					Golgi apparatus|nucleolus|plasma membrane					0						CTGGTGGAATTTGCTTATACT	0.338													C	23164385	T	C	23164385	3	2	191	1	0	0	0	0	1	0	0	0	8394	1841	64	3	312	3	KLHL7	7	23164385	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2481466	23164385	135974278	777	103797											
TRA2A	29896	broad.mit.edu	37	chr7	23547109	23547109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttatagaataatccacccGaattcttctaccatccagct	5	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:23547109G>A	uc003swi.2	-	5	785	c.571C>T	c.(571-573)CGG>TGG	p.R191W	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R90W|TRA2A_uc011jzd.1_Missense_Mutation_p.R90W	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	191	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TAATCCACCCGAATTCTTCTA	0.423													A	23547109	G	A	23547109	3	1	191	1	0	0	0	0	1	0	0	0	16430	1057	37	1	293	1	TRA2A	7	23547109	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	382724	23547109	135591554	778	103798											
DFNA5	1687	broad.mit.edu	37	chr7	24738827	24738827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtatctttcaggggagTcaaggttgggtcttcaagat	12	6	6	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:24738827T>G	uc010kus.1	-	10	1397	c.1309A>C	c.(1309-1311)ACT>CCT	p.T437P	DFNA5_uc003swz.2_Missense_Mutation_p.T273P|DFNA5_uc003sxa.1_Missense_Mutation_p.T437P|DFNA5_uc010kut.1_Missense_Mutation_p.T273P	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	437					sensory perception of sound					ovary(1)	1						TTCAGGGGAGTCAAGGTTGGG	0.408													G	24738827	T	G	24738827	3	3	191	1	0	0	0	0	1	0	0	0	4454	1667	58	5	185	5	DFNA5	7	24738827	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1191718	24738827	134399836	779	103799											
HOXA1	3198	broad.mit.edu	37	chr7	27135386	27135386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactaggaagcggtcgtcgCcgccgcaactgttggcgctg	14	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:27135386C>T	uc003sye.2	-	1	240	c.146G>A	c.(145-147)GGC>GAC	p.G49D	HOXA1_uc003syd.2_Missense_Mutation_p.G49D|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	49						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						GCGGTCGTCGCCGCCGCAACT	0.537											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	27135386	C	T	27135386	3	4	191	1	0	0	0	0	1	0	0	0	7288	739	26	2	869	2	HOXA1	7	27135386	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2396559	27135386	132003277	780	103800											
NOD1	10392	broad.mit.edu	37	chr7	30492568	30492570	+	In_Frame_Del	DEL	CAG	CAG	-													gtgtccatgtagatctcctcCagcagcagctcctccttctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:30492567_30492569CCAG>C	uc003tav.3	-	5	987_989	c.464_466CTGG>G	c.(463-468)ctggag>cGag	p.155_156LE>R	NOD1_uc010kvs.2_In_Frame_Del_p.155_156LE>R	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	155					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|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						TAGATCTCCTCCAGCAGCAGCTC	0.611													-	30492570	CAG	-	30492568	7	5	191	1	0	1	0	1	0	0	0	0	10516	581	21	0	2432	0	NOD1	7	30492568	In_Frame_Del	DEL	CAG	TCGA-CG-5723-01A-11D-1600-08	3357182	30492568	128646095	781	103801											
GARS	2617	broad.mit.edu	37	chr7	30673453	30673453	+	Frame_Shift_Del	DEL	A	A	-													ttgaagggcaagagactggtAaaaaagagacaatcgaggaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:30673452_30673452TA>T	uc003tbm.3	+	16	2553	c.2196_2196TA>T	c.(2194-2196)ggtfs	p.G732fs		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	732					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)	AAGAGACTGGTAAAAAAGAGA	0.418													-	30673453	A	-	30673453	7	5	191	1	0	1	0	1	0	0	0	0	6242	363	13	0	2263	0	GARS	7	30673453	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	180885	30673453	128465210	782	103802											
INMT	11185	broad.mit.edu	37	chr7	30795381	30795381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttgacattgaacagctcCtacacagtccccagagctac	7	14	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:30795381C>A	uc003tbs.1	+	3	722	c.706C>A	c.(706-708)CTA>ATA	p.L236I	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.L235I	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	236						cytoplasm	amine N-methyltransferase activity				0						TGAACAGCTCCTACACAGTCC	0.577													A	30795381	C	A	30795381	3	1	191	1	0	0	0	0	1	0	0	0	7745	680	24	5	716	5	INMT	7	30795381	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	121928	30795381	128343282	783	103803											
RP9	6100	broad.mit.edu	37	chr7	33136929	33136929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttgataaagaaagggCattctttgtcacccgttcgg	10	9	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:33136929C>T	uc003tdm.2	-	4	377	c.359G>A	c.(358-360)TGC>TAC	p.C120Y		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	120	PIM1-binding (By similarity).|CCHC-type.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			AAAGAAAGGGCATTCTTTGTC	0.378													T	33136929	C	T	33136929	3	4	191	1	0	0	0	0	1	0	0	0	13535	710	25	2	318	2	RP9	7	33136929	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2341548	33136929	126001734	784	103804											
BBS9	27241	broad.mit.edu	37	chr7	33296948	33296948	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctggctttcttctgccTggtcctcttgcctacagttc	7	16	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:33296948T>G	uc003tdn.1	+	6	1056	c.543T>G	c.(541-543)CCT>CCG	p.P181P	BBS9_uc003tdo.1_Silent_p.P181P|BBS9_uc003tdp.1_Silent_p.P181P|BBS9_uc003tdq.1_Silent_p.P181P|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.P181P|BBS9_uc011kao.1_Silent_p.P59P	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	181					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TTCTTCTGCCTGGTCCTCTTG	0.438									Bardet-Biedl_syndrome				G	33296948	T	G	33296948	2	3	191	1	0	0	0	0	0	0	0	1	1342	1567	55	5		5	BBS9	7	33296948	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	160019	33296948	125841715	785	103805											
BBS9	27241	broad.mit.edu	37	chr7	33397489	33397489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccgcgagttatccaatgTaaatttagacttcccctaaa	5	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:33397489T>C	uc003tdn.1	+	16	2088	c.1575T>C	c.(1573-1575)TGT>TGC	p.C525C	BBS9_uc003tdo.1_Silent_p.C490C|BBS9_uc003tdp.1_Silent_p.C520C|BBS9_uc003tdq.1_Silent_p.C485C|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.C49C|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.C403C	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	525					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TTATCCAATGTAAATTTAGAC	0.333									Bardet-Biedl_syndrome				C	33397489	T	C	33397489	2	2	191	1	0	0	0	0	0	0	0	1	1342	1644	57	3		3	BBS9	7	33397489	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	100541	33397489	125741174	786	103806											
NPSR1	387129	broad.mit.edu	37	chr7	34917721	34917721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcagctccaggaggctgcGctaatgctctgccctcaacg	11	15	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:34917721G>A	uc003tei.1	+	9	1187	c.1059G>A	c.(1057-1059)GCG>GCA	p.A353A	NPSR1_uc010kww.1_Silent_p.A342A|NPSR1_uc011kar.1_Silent_p.A287A	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	Error:Variant_position_missing_in_Q6W5P4_after_alignment						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	AGGAGGCTGCGCTAATGCTCT	0.532													A	34917721	G	A	34917721	2	1	191	1	0	0	0	0	0	0	0	1	10600	1074	38	1		1	NPSR1	7	34917721	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1520232	34917721	124220942	787	103807											
INHBA	3624	broad.mit.edu	37	chr7	41729889	41729889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacatgccaggtgctcttccGagcgtctactactttttcag	9	12	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:41729889G>A	uc003thq.2	-	2	875	c.640C>T	c.(640-642)CGG>TGG	p.R214W	INHBA_uc003thr.2_Missense_Mutation_p.R214W	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	214					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			lung(5)|ovary(1)	6						GTGCTCTTCCGAGCGTCTACT	0.592										TSP Lung(11;0.080)			A	41729889	G	A	41729889	3	1	191	1	0	0	0	0	1	0	0	0	7741	1057	37	1	644	1	INHBA	7	41729889	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6812168	41729889	117408774	788	103808											
GLI3	2737	broad.mit.edu	37	chr7	42085063	42085063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataatgtctgcataggggCtgcgctggccagttagcagg	15	8	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:42085063C>T	uc011kbh.1	-	6	837	c.746G>A	c.(745-747)AGC>AAC	p.S249N	GLI3_uc011kbg.1_Missense_Mutation_p.S190N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	249					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGCATAGGGGCTGCGCTGGCC	0.552									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42085063	C	T	42085063	3	4	191	1	0	0	0	0	1	0	0	0	6439	797	28	2	4036	2	GLI3	7	42085063	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	355174	42085063	117053600	789	103809											
C7orf25	79020	broad.mit.edu	37	chr7	42950002	42950002	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acactgttgtaaaatgcaaaGatgatgtgagggttgctata	11	4	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:42950002G>A	uc003thw.2	-	2	962	c.498C>T	c.(496-498)ATC>ATT	p.I166I	C7orf25_uc010kxq.2_Silent_p.I166I|C7orf25_uc003thx.3_Silent_p.I224I|C7orf25_uc010kxr.2_Silent_p.I224I	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	166										skin(1)	1						AAAATGCAAAGATGATGTGAG	0.498													A	42950002	G	A	42950002	2	1	191	1	0	0	0	0	0	0	0	1	2380	932	33	4		4	C7orf25	7	42950002	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	864939	42950002	116188661	790	103810											
C7orf44	55744	broad.mit.edu	37	chr7	43684886	43684886	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacgaagttttccctgtcGatgagcttgagataatggat	10	8	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:43684886G>A	uc003tin.1	-	4	322	c.228C>T	c.(226-228)ATC>ATT	p.I76I	C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Silent_p.I76I|C7orf44_uc003tiq.1_Silent_p.I76I|C7orf44_uc003tip.1_Silent_p.I76I	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	hypothetical protein LOC55744	76						integral to membrane				ovary(1)	1						TTTCCCTGTCGATGAGCTTGA	0.532													A	43684886	G	A	43684886	2	1	191	1	0	0	0	0	0	0	0	1	2394	1048	37	1		1	C7orf44	7	43684886	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	734884	43684886	115453777	791	103811											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-													agcttatgtccagcagagctGggggggtgcaacccggggga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)					-	44120414	G	-	44120414	7	5	191	1	0	1	0	1	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	435528	44120414	115018249	792	103812											
NPC1L1	29881	broad.mit.edu	37	chr7	44576448	44576448	+	Frame_Shift_Del	DEL	C	C	-													ccacttagcttacctttgtaCcccccaatggcaaggaaggg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44576447_44576447AC>A	uc003tlb.3	-	2	1731	c.1675_1675GT>T	c.(1675-1677)tacfs	p.Y559fs	NPC1L1_uc011kbw.2_Frame_Shift_Del_p.Y559fs|NPC1L1_uc003tlc.3_Frame_Shift_Del_p.Y559fs|NPC1L1_uc003tld.3_Frame_Shift_Del_p.Y559fs	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	559					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.G558V(1)		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)	TTACCTTTGTACCCCCCAATG	0.602													-	44576448	C	-	44576448	7	5	191	1	0	1	0	1	0	0	0	0	10571	494	18	0	2477	0	NPC1L1	7	44576448	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	456034	44576448	114562215	793	103813											
NPC1L1	29881	broad.mit.edu	37	chr7	44579262	44579262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcgtcaccttgggacTcattgcaacgtgcaaccccc	8	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44579262T>G	uc003tlb.2	-	2	790	c.734A>C	c.(733-735)GAG>GCG	p.E245A	NPC1L1_uc003tlc.2_Missense_Mutation_p.E245A|NPC1L1_uc011kbw.1_Missense_Mutation_p.E245A|NPC1L1_uc003tld.2_Missense_Mutation_p.E245A	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	245	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	ACCTTGGGACTCATTGCAACG	0.632													G	44579262	T	G	44579262	3	3	191	1	0	0	0	0	1	0	0	0	10571	1551	54	5	3421	5	NPC1L1	7	44579262	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2814	44579262	114559401	794	103814											
NPC1L1	29881	broad.mit.edu	37	chr7	44579700	44579700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgacagactcgcttccAgtgataccagctgcttggcg	11	12	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44579700A>G	uc003tlb.2	-	2	352	c.296T>C	c.(295-297)CTG>CCG	p.L99P	NPC1L1_uc003tlc.2_Missense_Mutation_p.L99P|NPC1L1_uc011kbw.1_Missense_Mutation_p.L99P|NPC1L1_uc003tld.2_Missense_Mutation_p.L99P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	99	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	ACTCGCTTCCAGTGATACCAG	0.582													G	44579700	A	G	44579700	3	3	191	1	0	0	0	0	1	0	0	0	10571	188	7	3	3859	3	NPC1L1	7	44579700	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	438	44579700	114558963	795	103815											
TNS3	64759	broad.mit.edu	37	chr7	47408881	47408881	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggcaccacgtggcgGgtcccactgtacttgcttcg	14	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:47408881G>T	uc003tnv.2	-	17	1729	c.1362C>A	c.(1360-1362)ACC>ACA	p.T454T	TNS3_uc003tnw.2_Silent_p.T454T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	454						focal adhesion	protein binding			ovary(4)	4						CCACGTGGCGGGTCCCACTGT	0.577													T	47408881	G	T	47408881	2	4	191	1	0	0	0	0	0	0	0	1	16341	1219	43	5		5	TNS3	7	47408881	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2829181	47408881	111729782	796	103816											
SUN3	256979	broad.mit.edu	37	chr7	48028463	48028463	+	Frame_Shift_Del	DEL	T	T	-													aaaatttcttctccttcacaTttttttgtgatgccctataa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:48028462_48028462AT>A	uc003tof.3	-	9	974	c.877_877AT>T	c.(877-879)tgtfs	p.C293fs	SUN3_uc010kyq.3_Frame_Shift_Del_p.C205fs|SUN3_uc003tog.3_Frame_Shift_Del_p.C293fs|SUN3_uc011kcf.2_Frame_Shift_Del_p.C281fs	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	293	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTCCTTCACATTTTTTTGTG	0.338													-	48028463	T	-	48028463	7	5	191	1	0	1	0	1	0	0	0	0	15390	1490	52	0	205	0	SUN3	7	48028463	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	619582	48028463	111110200	797	103817											
ABCA13	154664	broad.mit.edu	37	chr7	48319362	48319362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttcattaaagcaaccacCggaaagaatgtcacatcaga	6	9	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:48319362C>T	uc003toq.2	+	18	8596	c.8571C>T	c.(8569-8571)ACC>ACT	p.T2857T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2857					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAGCAACCACCGGAAAGAATG	0.368													T	48319362	C	T	48319362	2	4	191	1	0	0	0	0	0	0	0	1	31	639	23	1		1	ABCA13	7	48319362	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	290899	48319362	110819301	798	103818											
COBL	23242	broad.mit.edu	37	chr7	51096683	51096683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttatacgttgtgaggcCgtgcttaagtctgtagcttt	11	6	1	1	rs148062130		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:51096683C>T	uc003tpr.3	-	10	2295	c.2110G>A	c.(2110-2112)GGC>AGC	p.G704S	COBL_uc003tps.2_Missense_Mutation_p.G761S|COBL_uc011kcl.1_Missense_Mutation_p.G704S|COBL_uc003tpp.3_Missense_Mutation_p.G490S|COBL_uc003tpq.3_Missense_Mutation_p.G645S|COBL_uc003tpo.3_Missense_Mutation_p.G246S	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	704										skin(3)|ovary(2)	5	Glioma(55;0.08)					GTTGTGAGGCCGTGCTTAAGT	0.493													T	51096683	C	T	51096683	3	4	191	1	0	0	0	0	1	0	0	0	3653	652	23	1	1691	1	COBL	7	51096683	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2777321	51096683	108041980	799	103819											
POM121L12	285877	broad.mit.edu	37	chr7	53104026	53104026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccttcaagcccctgaGcaaaaatggagcggttgctt	10	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:53104026G>T	uc003tpz.2	+	1	678	c.662G>T	c.(661-663)AGC>ATC	p.S221I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	221											0						AAGCCCCTGAGCAAAAATGGA	0.632													T	53104026	G	T	53104026	3	4	191	1	0	0	0	0	1	0	0	0	12241	971	34	5	664	5	POM121L12	7	53104026	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2007343	53104026	106034637	800	103820											
POM121L12	285877	broad.mit.edu	37	chr7	53104102	53104103	+	Frame_Shift_Ins	INS	-	-	T													tcggcccctggagcctcagtINSttttgtgatgatgcttggcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:53104101_53104102G>GT	uc003tpz.3	+	0	753_754	c.737_738G>GT	c.(736-738)agtfs	p.S246fs		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	246										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCCTCAGTTTTTGTGATG	0.639													T	53104103	-	T	53104102	7	5	191	1	0	1	1	0	0	0	0	0	12241	1722	60	0	740	0	POM121L12	7	53104102	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	76	53104102	106034561	801	103821											
PHKG1	5260	broad.mit.edu	37	chr7	56148844	56148844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccttcttcacccagtggCcatagattcggaaagcgtag	10	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:56148844C>T	uc003trz.1	-	10	1262	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.G250D|PHKG1_uc011kdb.1_Missense_Mutation_p.G388D|PHKG1_uc011kdc.1_Missense_Mutation_p.G347D|PHKG1_uc011kdd.1_Missense_Mutation_p.G302D	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	356	Calmodulin-binding (domain-C).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACCCAGTGGCCATAGATTCG	0.647													T	56148844	C	T	56148844	3	4	191	1	0	0	0	0	1	0	0	0	11846	739	26	2	100	2	PHKG1	7	56148844	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3044742	56148844	102989819	802	103822											
AUTS2	26053	broad.mit.edu	37	chr7	70255700	70255700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactacgagcacacgcgGctccactccgtgcaccccgc	10	18	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:70255700G>A	uc003tvw.3	+	19	4241	c.3498G>A	c.(3496-3498)CGG>CGA	p.R1166R	AUTS2_uc003tvx.3_Silent_p.R1142R|AUTS2_uc011keg.1_Silent_p.R618R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1166	His-rich.									ovary(2)|central_nervous_system(1)	3		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)		AGCACACGCGGCTCCACTCCG	0.682													A	70255700	G	A	70255700	2	1	191	1	0	0	0	0	0	0	0	1	1225	1190	42	2		2	AUTS2	7	70255700	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	14106856	70255700	88882963	803	103823											
BAZ1B	9031	broad.mit.edu	37	chr7	72884801	72884801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgttcttcttcagcttggCgttccagtttcactgttaaa	7	10	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:72884801C>T	uc003tyc.2	-	8	2951	c.2606G>A	c.(2605-2607)CGC>CAC	p.R869H		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	869	Potential.				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			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCAGCTTGGCGTTCCAGTTT	0.398													T	72884801	C	T	72884801	3	4	191	1	0	0	0	0	1	0	0	0	1330	768	27	1	1893	1	BAZ1B	7	72884801	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2629101	72884801	86253862	804	103824											
MLXIPL	51085	broad.mit.edu	37	chr7	73009996	73009996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagttgtgcagcgtacGggttcggacgtagtcatcaa	12	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:73009996G>A	uc003tyn.1	-	15	2329	c.2281C>T	c.(2281-2283)CGT>TGT	p.R761C	MLXIPL_uc003tyj.1_Missense_Mutation_p.R140C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R740C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R759C|MLXIPL_uc003tym.1_Missense_Mutation_p.R742C|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R667C	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	761					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			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCAGCGTACGGGTTCGGACG	0.632													A	73009996	G	A	73009996	3	1	191	1	0	0	0	0	1	0	0	0	9637	1116	39	1	289	1	MLXIPL	7	73009996	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	125195	73009996	86128667	805	103825											
TRIM74	378108	broad.mit.edu	37	chr7	75034218	75034218	+	Frame_Shift_Del	DEL	G	G	-													cccgctgcctggaggggataGggggtcacacccgtggcctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:75034218delG	uc003udc.1	+	4	792	c.592delG	c.(592-594)GGGfs	p.G198fs	TRIM74_uc010ldc.2_Frame_Shift_Del_p.G198fs|TRIM74_uc010ldd.2_Frame_Shift_Del_p.G198fs	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	tripartite motif-containing 73	198						intracellular	zinc ion binding				0						GGAGGGGATAGGGGGTCACAC	0.677													-	75034218	G	-	75034218	7	5	191	1	0	1	0	1	0	0	0	0	16544	1000	35	0	602	0	TRIM74	7	75034218	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2024222	75034218	84104445	806	103826											
RHBDD2	57414	broad.mit.edu	37	chr7	75517524	75517524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaaccccacctcctccAgtgtctacccagcttctgcg	6	19	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:75517524A>G	uc003udw.1	+	4	1036	c.952A>G	c.(952-954)AGT>GGT	p.S318G	RHBDD2_uc003udv.1_Missense_Mutation_p.S177G	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	318						integral to membrane	serine-type endopeptidase activity				0						CACCTCCTCCAGTGTCTACCC	0.657													G	75517524	A	G	75517524	3	3	191	1	0	0	0	0	1	0	0	0	13317	188	7	3	966	3	RHBDD2	7	75517524	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	483306	75517524	83621139	807	103827											
PTPN12	5782	broad.mit.edu	37	chr7	77256248	77256248	+	Frame_Shift_Del	DEL	A	A	-													aatcaacagaacttccagggAaaaatgaatcaacaattgaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:77256247_77256247GA>G	uc003ugh.2	+	12	1342	c.1251_1251GA>G	c.(1249-1251)gggfs	p.G417fs	PTPN12_uc011kgp.1_Frame_Shift_Del_p.G298fs|PTPN12_uc011kgq.1_Frame_Shift_Del_p.G287fs|PTPN12_uc010lds.2_Frame_Shift_Del_p.G149fs	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	417	Interaction with TGFB1I1 (By similarity).					soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			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						AACTTCCAGGGAAAAATGAAT	0.353													-	77256248	A	-	77256248	7	5	191	1	0	1	0	1	0	0	0	0	12781	247	9	0	1302	0	PTPN12	7	77256248	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1738724	77256248	81882415	808	103828											
HGF	3082	broad.mit.edu	37	chr7	81346622	81346622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtccatgagcatcatcaTctggatttcggcagtaattc	10	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:81346622T>C	uc003uhl.2	-	11	1496	c.1331A>G	c.(1330-1332)GAT>GGT	p.D444G	HGF_uc003uhm.2_Missense_Mutation_p.D439G	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	444	Kringle 4.				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			ovary(2)|central_nervous_system(2)	4						AGCATCATCATCTGGATTTCG	0.448													C	81346622	T	C	81346622	3	2	191	1	0	0	0	0	1	0	0	0	7085	1435	50	3	887	3	HGF	7	81346622	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	4090374	81346622	77792041	809	103829											
CACNA2D1	781	broad.mit.edu	37	chr7	81588629	81588629	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacatcaggcccttttcGgtatctgggttgcttaacca	10	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:81588629G>A	uc003uhr.1	-	38	3377	c.3121C>T	c.(3121-3123)CGA>TGA	p.R1041*	CACNA2D1_uc011kgy.1_Nonsense_Mutation_p.R253*	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	1053	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGCCCTTTTCGGTATCTGGGT	0.358													A	81588629	G	A	81588629	4	1	191	1	0	0	0	0	0	1	0	0	2548	1124	39	1	162	1	CACNA2D1	7	81588629	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	242007	81588629	77550034	810	103830											
SEMA3E	9723	broad.mit.edu	37	chr7	83277848	83277848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggtgataatgtgccccGcggatgccatgctgccgtgt	14	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:83277848G>A	uc003uhy.1	-	1	477	c.11C>T	c.(10-12)GCG>GTG	p.A4V		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	4					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				AATGTGCCCCGCGGATGCCAT	0.567													A	83277848	G	A	83277848	3	1	191	1	0	0	0	0	1	0	0	0	14028	1087	38	1	2384	1	SEMA3E	7	83277848	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1689219	83277848	75860815	811	103831											
ABCB4	5244	broad.mit.edu	37	chr7	87073078	87073078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctctctgaaaaactgtcAattttaggattctaaataaa	4	8	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:87073078A>G	uc003uiv.1	-	11	1207	c.1131T>C	c.(1129-1131)ATT>ATC	p.I377I	ABCB4_uc003uiw.1_Silent_p.I377I|ABCB4_uc003uix.1_Silent_p.I377I	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	377	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAAACTGTCAATTTTAGGAT	0.343													G	87073078	A	G	87073078	2	3	191	1	0	0	0	0	0	0	0	1	43	126	5	3		3	ABCB4	7	87073078	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3795230	87073078	72065585	812	103832											
ZNF804B	219578	broad.mit.edu	37	chr7	88963047	88963047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacccatgattgtaacaagTcacccatttataaaacaaaa	3	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:88963047T>C	uc011khi.1	+	4	1289	c.751T>C	c.(751-753)TCA>CCA	p.S251P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	251						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGTAACAAGTCACCCATTTA	0.348										HNSCC(36;0.09)			C	88963047	T	C	88963047	3	2	191	1	0	0	0	0	1	0	0	0	18168	1667	58	3	765	3	ZNF804B	7	88963047	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1889969	88963047	70175616	813	103833											
ZNF804B	219578	broad.mit.edu	37	chr7	88964676	88964676	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtgggaatcatttaaaaatGaaaaatactcaaaacgtaga	7	4	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:88964676G>T	uc011khi.1	+	4	2918	c.2380G>T	c.(2380-2382)GAA>TAA	p.E794*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	794						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTAAAAATGAAAAATACTC	0.358										HNSCC(36;0.09)			T	88964676	G	T	88964676	4	4	191	1	0	0	0	0	0	1	0	0	18168	1291	45	5	2394	5	ZNF804B	7	88964676	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1629	88964676	70173987	814	103834											
KRIT1	889	broad.mit.edu	37	chr7	91870426	91870426	+	Frame_Shift_Del	DEL	T	T	-													ccaataaaactttctttctcTtttttttctgtccttcaatg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:91870425_91870425CT>C	uc003ulr.1	-	4	1036	c.144_144AG>G	c.(142-144)aagfs	p.K48fs	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003uls.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003ult.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003ulu.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003ulv.1_Frame_Shift_Del_p.K48fs	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	48					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)			CTTTCTTTCTCTTTTTTTTCT	0.338													-	91870426	T	-	91870426	7	5	191	1	0	1	0	1	0	0	0	0	8445	1609	56	0	2127	0	KRIT1	7	91870426	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2905750	91870426	67268237	815	103835											
ANKIB1	54467	broad.mit.edu	37	chr7	92028112	92028112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaacccagatagaagaaaAtcctttggaagaaaatattc	8	6	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:92028112A>C	uc003ulw.2	+	20	3495	c.3119A>C	c.(3118-3120)AAT>ACT	p.N1040T	ANKIB1_uc010lew.1_Missense_Mutation_p.N309T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	1040							protein binding|zinc ion binding			lung(1)	1	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)			ATAGAAGAAAATCCTTTGGAA	0.478													C	92028112	A	C	92028112	3	2	191	1	0	0	0	0	1	0	0	0	630	101	4	5	3193	5	ANKIB1	7	92028112	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	157686	92028112	67110551	816	103836											
TECPR1	25851	broad.mit.edu	37	chr7	97861206	97861206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccagggccaagcgcacGtccacccacttgtggggctt	12	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:97861206G>A	uc003upg.2	-	13	2089	c.1884C>T	c.(1882-1884)GAC>GAT	p.D628D	TECPR1_uc003uph.1_Silent_p.D558D	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	628	PH.					integral to membrane	protein binding			pancreas(1)	1						CCAAGCGCACGTCCACCCACT	0.657													A	97861206	G	A	97861206	2	1	191	1	0	0	0	0	0	0	0	1	15740	1136	40	1		1	TECPR1	7	97861206	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5833094	97861206	61277457	817	103837											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97944910	97944910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcactctgacgagaagtAacggtctccacatactaaaa	6	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:97944910A>G	uc003upj.2	-	7	764	c.501T>C	c.(499-501)GTT>GTC	p.V167V		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	167	IMD.				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			ovary(1)	1	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)			GACGAGAAGTAACGGTCTCCA	0.383													G	97944910	A	G	97944910	2	3	191	1	0	0	0	0	0	0	0	1	1302	349	13	3		3	BAIAP2L1	7	97944910	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	83704	97944910	61193753	818	103838											
TMEM130	222865	broad.mit.edu	37	chr7	98453803	98453803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcttcagtcaccatctgGgtcctgttaggagacaggga	13	9	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:98453803G>A	uc003upo.2	-	4	744	c.555C>T	c.(553-555)ACC>ACT	p.T185T	TMEM130_uc011kiq.1_Silent_p.T166T|TMEM130_uc011kir.1_Silent_p.T185T|TMEM130_uc003upn.2_Silent_p.T83T	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	185	Extracellular (Potential).|PKD.					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	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)			TCACCATCTGGGTCCTGTTAG	0.532													A	98453803	G	A	98453803	2	1	191	1	0	0	0	0	0	0	0	1	16040	1219	43	4		4	TMEM130	7	98453803	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	508893	98453803	60684860	819	103839											
TRRAP	8295	broad.mit.edu	37	chr7	98609946	98609946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctggacaatctgtgcCgcatggaccccgcctggcac	11	16	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:98609946C>T	uc003upp.2	+	72	11757	c.11548C>T	c.(11548-11550)CGC>TGC	p.R3850C	TRRAP_uc011kis.1_Missense_Mutation_p.R3821C|TRRAP_uc003upr.2_Missense_Mutation_p.R3556C|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3850	FATC.				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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			CAATCTGTGCCGCATGGACCC	0.662													T	98609946	C	T	98609946	3	4	191	1	0	0	0	0	1	0	0	0	16598	652	23	1	11739	1	TRRAP	7	98609946	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	156143	98609946	60528717	820	103840											
ZNF394	84124	broad.mit.edu	37	chr7	99091496	99091496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatatgacaggtttcccCgcattcctcacatttaaaat	6	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99091496C>A	uc003uqs.2	-	3	1503	c.1342G>T	c.(1342-1344)GGG>TGG	p.G448W	ZNF394_uc003uqt.2_Missense_Mutation_p.G241W	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	448	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)					CAGGTTTCCCCGCATTCCTCA	0.433													A	99091496	C	A	99091496	3	1	191	1	0	0	0	0	1	0	0	0	17877	652	23	5	347	5	ZNF394	7	99091496	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	481550	99091496	60047167	821	103841											
ZNF655	79027	broad.mit.edu	37	chr7	99170525	99170525	+	Frame_Shift_Del	DEL	A	A	-													taaaagaatacacactagagAaaaaccttacaaatgtgaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99170524_99170524GA>G	uc010lga.3	+	3	1291	c.898_898GA>G	c.(898-900)gaafs	p.E300fs	ZNF655_uc003urh.3_Frame_Shift_Del_p.E265fs|ZNF655_uc010lgc.3_Frame_Shift_Del_p.E300fs|ZNF655_uc003urj.3_Frame_Shift_Del_p.E265fs|ZNF655_uc003urk.3_Frame_Shift_Del_p.E102fs|ZNF655_uc010lgd.3_Frame_Shift_Del_p.E102fs	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	265					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACACACTAGAGAAAAACCTTA	0.373													-	99170525	A	-	99170525	7	5	191	1	0	1	0	1	0	0	0	0	18065	246	9	0	1331	0	ZNF655	7	99170525	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	79029	99170525	59968138	822	103842											
GPC2	221914	broad.mit.edu	37	chr7	99773286	99773286	+	Frame_Shift_Del	DEL	G	G	-													agaggcagagcaggtagtcaGgggggaagctgtactgtggg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99773285_99773285AG>A	uc003utv.3	-	2	726	c.558_558CT>T	c.(556-558)cctfs	p.P186fs	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Frame_Shift_Del_p.P186fs|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	186						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)					GCAGGTAGTCAGGGGGGAAGC	0.632													-	99773286	G	-	99773286	7	5	191	1	0	1	0	1	0	0	0	0	6598	1000	35	0	1214	0	GPC2	7	99773286	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	602761	99773286	59365377	823	103843											
SPDYE3	441272	broad.mit.edu	37	chr7	99917282	99917282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactctcacatacccttgCgccctaagcattggttccag	6	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99917282C>T	uc003uug.1	+	4	550	c.310C>T	c.(310-312)CGC>TGC	p.R104C	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	481											0						CATACCCTTGCGCCCTAAGCA	0.537													T	99917282	C	T	99917282	3	4	191	1	0	0	0	0	1	0	0	0	15029	768	27	1	1475	1	SPDYE3	7	99917282	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	143996	99917282	59221381	824	103844											
PCOLCE	5118	broad.mit.edu	37	chr7	100201128	100201128	+	Frame_Shift_Del	DEL	C	C	-													gaggggttccccaacctctaCccccctaataaggagtgcat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100201127_100201127AC>A	uc003uvo.3	+	1	368	c.170_170AC>A	c.(169-171)tacfs	p.Y57fs	LOC100129845_uc011kjy.2_Intron|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Frame_Shift_Del_p.Y57fs	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	57	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAACCTCTACCCCCCTAAT	0.547													-	100201128	C	-	100201128	7	5	191	1	0	1	0	1	0	0	0	0	11594	518	18	0	177	0	PCOLCE	7	100201128	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	283846	100201128	58937535	825	103845											
GNB2	2783	broad.mit.edu	37	chr7	100276081	100276081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgccacgtgccgcctcttcGacctgcgggccgatcaggag	13	16	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100276081G>A	uc003uwb.2	+	9	1033	c.760G>A	c.(760-762)GAC>AAC	p.D254N	GNB2_uc003uwc.2_Missense_Mutation_p.D210N|GNB2_uc010lhd.2_Missense_Mutation_p.D210N|GNB2_uc010lhe.2_Missense_Mutation_p.D210N|GNB2_uc003uwd.2_Missense_Mutation_p.D154N|GNB2_uc010lhf.2_Missense_Mutation_p.D154N|GNB2_uc003uwe.2_Missense_Mutation_p.D254N|GNB2_uc003uwf.2_Missense_Mutation_p.D154N	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	254	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGCCTCTTCGACCTGCGGGC	0.637													A	100276081	G	A	100276081	3	1	191	1	0	0	0	0	1	0	0	0	6517	1058	37	1	790	1	GNB2	7	100276081	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	74953	100276081	58862582	826	103846											
ZAN	7455	broad.mit.edu	37	chr7	100390033	100390033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctgcaccaggcactgCgtgctggatctgtgctctgc	11	15	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100390033C>T	uc003uwj.2	+	43	7884	c.7719C>T	c.(7717-7719)TGC>TGT	p.C2573C	ZAN_uc003uwk.2_Silent_p.C2573C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.A566V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2573	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGGCACTGCGTGCTGGATC	0.632													T	100390033	C	T	100390033	2	4	191	1	0	0	0	0	0	0	0	1	17510	776	27	1		1	ZAN	7	100390033	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	113952	100390033	58748630	827	103847											
TRIP6	7205	broad.mit.edu	37	chr7	100469273	100469273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgcgtggtgtgtcacCgcggcctcgacggcatcccc	12	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100469273C>T	uc003uww.2	+	7	1278	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	370	LIM zinc-binding 2.				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			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGTGTCACCGCGGCCTCGA	0.617													T	100469273	C	T	100469273	3	4	191	1	0	0	0	0	1	0	0	0	16556	652	23	1	1134	1	TRIP6	7	100469273	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	79240	100469273	58669390	828	103848											
PLOD3	8985	broad.mit.edu	37	chr7	100853896	100853896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctggggcagctccatccGcagggtatcaccccggatca	11	16	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100853896G>A	uc003uyd.2	-	13	1873	c.1417C>T	c.(1417-1419)CGG>TGG	p.R473W	PLOD3_uc010lhs.2_Missense_Mutation_p.R38W	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	473					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTCCATCCGCAGGGTATCA	0.622													A	100853896	G	A	100853896	3	1	191	1	0	0	0	0	1	0	0	0	12103	1086	38	1	827	1	PLOD3	7	100853896	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	384623	100853896	58284767	829	103849											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-													aaacacggccagaaacacccGggggggaggctggaagatgc					rs138002558	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100855926_100855926CG>C	uc003uyd.3	-	8	1346	c.890_890CG>G	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(2)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGG	0.642													-	100855927	G	-	100855927	7	5	191	1	0	1	0	1	0	0	0	0	12103	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2031	100855927	58282736	830	103850											
ARMC10	83787	broad.mit.edu	37	chr7	102738805	102738805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggagattcttcttcgAgtacttacgctatttcagaa	8	8	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:102738805A>G	uc003vaw.1	+	7	1229	c.837A>G	c.(835-837)CGA>CGG	p.R279R	ARMC10_uc003vay.1_Silent_p.R220R|ARMC10_uc003vax.1_Silent_p.R244R|ARMC10_uc003vbb.1_Silent_p.R185R|ARMC10_uc011kli.1_Silent_p.R220R|ARMC10_uc010lis.1_Silent_p.R161R|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Silent_p.R157R	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	SVH protein isoform a	279					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			ovary(1)	1						TTCTTCTTCGAGTACTTACGC	0.348													G	102738805	A	G	102738805	2	3	191	1	0	0	0	0	0	0	0	1	950	291	11	3		3	ARMC10	7	102738805	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1882878	102738805	56399858	831	103851											
PIK3CG	5294	broad.mit.edu	37	chr7	106508673	106508673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaactgcatcttcatcGtcattcaccgcagcaccacc	4	18	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:106508673G>A	uc003vdv.3	+	2	752	c.667G>A	c.(667-669)GTC>ATC	p.V223I	PIK3CG_uc003vdu.2_Missense_Mutation_p.V223I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V223I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	223					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			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CATCTTCATCGTCATTCACCG	0.592													A	106508673	G	A	106508673	3	1	191	1	0	0	0	0	1	0	0	0	11916	1145	40	1	669	1	PIK3CG	7	106508673	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3769868	106508673	52629990	832	103852											
NRCAM	4897	broad.mit.edu	37	chr7	107822325	107822325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgggtcccagtgcacctCggctaaggtactgttcacca	10	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:107822325C>T	uc003vfb.2	-	24	3058	c.2587G>A	c.(2587-2589)GAG>AAG	p.E863K	NRCAM_uc003vfc.2_Missense_Mutation_p.E847K|NRCAM_uc011kmk.1_Missense_Mutation_p.E858K|NRCAM_uc003vfd.2_Missense_Mutation_p.E839K|NRCAM_uc003vfe.2_Missense_Mutation_p.E839K	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	863	Fibronectin type-III 3.|Extracellular (Potential).				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			ovary(3)|breast(2)	5						CAGTGCACCTCGGCTAAGGTA	0.493													T	107822325	C	T	107822325	3	4	191	1	0	0	0	0	1	0	0	0	10644	893	31	1	1397	1	NRCAM	7	107822325	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1313652	107822325	51316338	833	103853											
NRCAM	4897	broad.mit.edu	37	chr7	107834488	107834488	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatcactgggcagttcCctgttgtccttcagccacag	8	14	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:107834488C>A	uc003vfb.2	-	17	2229	c.1758G>T	c.(1756-1758)AGG>AGT	p.R586S	NRCAM_uc003vfc.2_Missense_Mutation_p.R580S|NRCAM_uc011kmk.1_Missense_Mutation_p.R581S|NRCAM_uc003vfd.2_Missense_Mutation_p.R562S|NRCAM_uc003vfe.2_Missense_Mutation_p.R562S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	586	Ig-like 6.|Extracellular (Potential).				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			ovary(3)|breast(2)	5						TGGGCAGTTCCCTGTTGTCCT	0.403													A	107834488	C	A	107834488	3	1	191	1	0	0	0	0	1	0	0	0	10644	622	22	5	2254	5	NRCAM	7	107834488	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	12163	107834488	51304175	834	103854											
DOCK4	9732	broad.mit.edu	37	chr7	111372303	111372303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatggagatcgcccggcAggcgagggggatactgatgt	16	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:111372303A>G	uc003vfx.2	-	51	5702	c.5433T>C	c.(5431-5433)CCT>CCC	p.P1811P	DOCK4_uc011kml.1_Silent_p.P692P|DOCK4_uc011kmm.1_Silent_p.P680P|DOCK4_uc003vfw.2_Silent_p.P1223P|DOCK4_uc003vfy.2_Silent_p.P1856P|DOCK4_uc003vfv.2_Silent_p.P124P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1811	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ATCGCCCGGCAGGCGAGGGGG	0.463													G	111372303	A	G	111372303	2	3	191	1	0	0	0	0	0	0	0	1	4689	175	7	3		3	DOCK4	7	111372303	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3537815	111372303	47766360	835	103855											
C7orf53	286006	broad.mit.edu	37	chr7	112127037	112127038	+	Frame_Shift_Ins	INS	-	-	T													aaatggaagccggagtctgtINStttttgtggggctgctaatt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:112127036_112127037G>GT	uc011kmq.2	+	2	321_322	c.186_187G>GT	c.(184-189)ctgtttfs	p.L62fs	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Frame_Shift_Ins_p.L62fs	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	62						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						GCCGGAGTCTGTTTTTTGTGGG	0.401													T	112127038	-	T	112127037	7	5	191	1	0	1	1	0	0	0	0	0	2402	1725	60	0	193	0	C7orf53	7	112127037	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	754734	112127037	47011626	836	103856											
WNT2	7472	broad.mit.edu	37	chr7	116955281	116955281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcctttgctgtccttggcGcttcccatcttctttggatc	8	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:116955281G>A	uc003viz.2	-	3	732	c.432C>T	c.(430-432)AGC>AGT	p.S144S	WNT2_uc003vja.2_Silent_p.S48S	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	144					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(2)|ovary(1)|lung(1)|skin(1)	7	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)		TGTCCTTGGCGCTTCCCATCT	0.453													A	116955281	G	A	116955281	2	1	191	1	0	0	0	0	0	0	0	1	17383	1078	38	1		1	WNT2	7	116955281	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4828244	116955281	42183382	837	103857											
TAS2R16	50833	broad.mit.edu	37	chr7	122635425	122635425	+	Frame_Shift_Del	DEL	A	A	-													aaccagaatgtaaggatattAaaaaattcccaggtgattgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:122635424_122635424TA>T	uc003vkl.1	-	0	331	c.265_265TA>A	c.(265-267)aatfs	p.N89fs		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	89					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.N89S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAAGGATATTAAAAAATTCC	0.383													-	122635425	A	-	122635425	7	5	191	1	0	1	0	1	0	0	0	0	15566	359	13	0	615	0	TAS2R16	7	122635425	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	5680144	122635425	36503238	838	103858											
SPAM1	6677	broad.mit.edu	37	chr7	123593853	123593853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctcttctctttcataGgaagcccccgaataaacgcc	7	14	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:123593853G>A	uc003vld.2	+	4	631	c.229G>A	c.(229-231)GGA>AGA	p.G77R	SPAM1_uc003vle.2_Missense_Mutation_p.G77R|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.G77R|SPAM1_uc010lku.2_Missense_Mutation_p.G77R	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	77					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			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	CTCTTTCATAGGAAGCCCCCG	0.423													A	123593853	G	A	123593853	3	1	191	1	0	0	0	0	1	0	0	0	14986	1001	35	4	231	4	SPAM1	7	123593853	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	958428	123593853	35544810	839	103859											
ZNF800	168850	broad.mit.edu	37	chr7	127014342	127014342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaattgtattcagcctttgAagaagacttttgttttcgag	8	5	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127014342A>G	uc003vlx.1	-	5	1311	c.1048T>C	c.(1048-1050)TCA>CCA	p.S350P	ZNF800_uc003vlw.1_Missense_Mutation_p.S253P|ZNF800_uc003vly.1_Missense_Mutation_p.S350P|ZNF800_uc010lla.2_Missense_Mutation_p.S350P	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCAGCCTTTGAAGAAGACTTT	0.343													G	127014342	A	G	127014342	3	3	191	1	0	0	0	0	1	0	0	0	18166	246	9	3	954	3	ZNF800	7	127014342	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3420489	127014342	32124321	840	103860											
ZNF800	168850	broad.mit.edu	37	chr7	127014605	127014605	+	Frame_Shift_Del	DEL	T	T	-													tctttcgtgtttcaatgtacTtttttagttcttccatcttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127014604_127014604CT>C	uc010lla.2	-	4	1498	c.786_786AG>G	c.(784-786)aagfs	p.K262fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K165fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K262fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K262fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	262					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						TTTCAATGTACTTTTTTAGTT	0.353													-	127014605	T	-	127014605	7	5	191	1	0	1	0	1	0	0	0	0	18166	1609	56	0	1217	0	ZNF800	7	127014605	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	263	127014605	32124058	841	103861											
FSCN3	29999	broad.mit.edu	37	chr7	127236393	127236393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcagatggtgaggtgCgtgctgcttctgagcgctta	14	10	2	3	rs148605578		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127236393C>T	uc003vmd.1	+	3	1072	c.853C>T	c.(853-855)CGT>TGT	p.R285C	FSCN3_uc011koh.1_Missense_Mutation_p.R151C|FSCN3_uc010llc.1_Missense_Mutation_p.R285C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	285						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						TGGTGAGGTGCGTGCTGCTTC	0.552													T	127236393	C	T	127236393	3	4	191	1	0	0	0	0	1	0	0	0	6069	768	27	1	863	1	FSCN3	7	127236393	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	221788	127236393	31902270	842	103862											
RBM28	55131	broad.mit.edu	37	chr7	127955004	127955004	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgagctgccttctgttGctggtcttttgcaggctctg	13	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127955004G>A	uc003vmp.2	-	17	1973	c.1858C>T	c.(1858-1860)CAA>TAA	p.Q620*	RBM28_uc003vmo.2_Nonsense_Mutation_p.Q162*|RBM28_uc011koj.1_Nonsense_Mutation_p.Q479*	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	620					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						GCCTTCTGTTGCTGGTCTTTT	0.517													A	127955004	G	A	127955004	4	1	191	1	0	0	0	0	0	1	0	0	13128	1328	46	2	433	2	RBM28	7	127955004	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	718611	127955004	31183659	843	103863											
FLNC	2318	broad.mit.edu	37	chr7	128481391	128481391	+	Frame_Shift_Del	DEL	G	G	-													tcattgcccacatcctgcccGccccacctgactgcttccca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:128481390_128481390CG>C	uc003vnz.4	+	11	2189	c.1980_1980CG>C	c.(1978-1980)cccfs	p.P660fs	FLNC_uc003voa.4_Frame_Shift_Del_p.P660fs	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	660					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						ACATCCTGCCCGCCCCACCTG	0.632													-	128481391	G	-	128481391	7	5	191	1	0	1	0	1	0	0	0	0	5935	1087	38	0	2027	0	FLNC	7	128481391	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	526387	128481391	30657272	844	103864											
IRF5	3663	broad.mit.edu	37	chr7	128588011	128588011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggatgtcctggaccGcgggctcatcctccagctac	12	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:128588011G>A	uc003vog.2	+	8	1107	c.986G>A	c.(985-987)CGC>CAC	p.R329H	IRF5_uc003voh.2_Missense_Mutation_p.R313H|IRF5_uc010llt.2_Missense_Mutation_p.R237H|IRF5_uc003voi.2_Missense_Mutation_p.R313H|IRF5_uc003voj.3_Missense_Mutation_p.R313H|IRF5_uc010llw.1_3'UTR	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	323					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GTCCTGGACCGCGGGCTCATC	0.617													A	128588011	G	A	128588011	3	1	191	1	0	0	0	0	1	0	0	0	7833	1087	38	1	1038	1	IRF5	7	128588011	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	106620	128588011	30550652	845	103865											
SMO	6608	broad.mit.edu	37	chr7	128845469	128845469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccacattcgtggctgacTggcggaactcgaatcgctac	12	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:128845469T>C	uc003vor.2	+	4	1046	c.766T>C	c.(766-768)TGG>CGG	p.W256R	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	256	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CGTGGCTGACTGGCGGAACTC	0.537			Mis		skin basal cell 								C	128845469	T	C	128845469	3	2	191	1	0	0	0	0	1	0	0	0	14800	1580	55	3	780	3	SMO	7	128845469	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	257458	128845469	30293194	846	103866											
KLHDC10	23008	broad.mit.edu	37	chr7	129770479	129770479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtacctagcctgctggaaCtggcatgggagaagctgctt	14	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:129770479C>T	uc003vpj.1	+	10	1357	c.1222C>T	c.(1222-1224)CTG>TTG	p.L408L	KLHDC10_uc003vpk.1_Silent_p.L379L|KLHDC10_uc010lmb.1_Silent_p.L305L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	408	Kelch 6.										0						CCTGCTGGAACTGGCATGGGA	0.512													T	129770479	C	T	129770479	2	4	191	1	0	0	0	0	0	0	0	1	8355	564	20	4		4	KLHDC10	7	129770479	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	925010	129770479	29368184	847	103867											
PODXL	5420	broad.mit.edu	37	chr7	131195812	131195812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacactgtggctgctttTccccccagagtttgttgtat	10	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:131195812T>C	uc003vqw.3	-	2	739	c.481A>G	c.(481-483)AAA>GAA	p.K161E	PODXL_uc003vqx.3_Missense_Mutation_p.K161E	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	161	Thr-rich.|Extracellular (Potential).				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				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					TGGCTGCTTTTCCCCCCAGAG	0.527													C	131195812	T	C	131195812	3	2	191	1	0	0	0	0	1	0	0	0	12180	1792	62	3	1227	3	PODXL	7	131195812	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1425333	131195812	27942851	848	103868											
PLXNA4	91584	broad.mit.edu	37	chr7	131848964	131848964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaggagtagcgggcctcGcccgtgatggcgtcaatggg	16	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:131848964G>A	uc003vra.3	-	24	4666	c.4437C>T	c.(4435-4437)GGC>GGT	p.G1479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1479	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGCGGGCCTCGCCCGTGATGG	0.592													A	131848964	G	A	131848964	2	1	191	1	0	0	0	0	0	0	0	1	12122	1074	38	1		1	PLXNA4	7	131848964	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	653152	131848964	27289699	849	103869											
PLXNA4	91584	broad.mit.edu	37	chr7	132192606	132192606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtcctccttgcaaaGcctcacgagcttggatgtat	11	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:132192606G>T	uc003vra.3	-	2	1076	c.847C>A	c.(847-849)CTT>ATT	p.L283I	PLXNA4_uc003vrc.2_Missense_Mutation_p.L283I|PLXNA4_uc003vrb.2_Missense_Mutation_p.L283I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	283	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TCCTTGCAAAGCCTCACGAGC	0.562													T	132192606	G	T	132192606	3	4	191	1	0	0	0	0	1	0	0	0	12122	971	34	5	5275	5	PLXNA4	7	132192606	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	343642	132192606	26946057	850	103870											
EXOC4	60412	broad.mit.edu	37	chr7	132973835	132973835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagctggaacagtgcatgGccagcaagcactatctcagt	10	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:132973835G>A	uc003vrk.2	+	3	471	c.436G>A	c.(436-438)GCC>ACC	p.A146T	EXOC4_uc011kpo.1_Missense_Mutation_p.A45T|EXOC4_uc003vri.2_Missense_Mutation_p.A146T|EXOC4_uc003vrj.2_Missense_Mutation_p.A146T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	146					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				ACAGTGCATGGCCAGCAAGCA	0.418													A	132973835	G	A	132973835	3	1	191	1	0	0	0	0	1	0	0	0	5306	1203	42	2	446	2	EXOC4	7	132973835	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	781229	132973835	26164828	851	103871											
EXOC4	60412	broad.mit.edu	37	chr7	133164813	133164813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctgcaggttcgaatcGtcctcccatgccatcagtat	7	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:133164813G>A	uc003vrk.2	+	9	1373	c.1338G>A	c.(1336-1338)TCG>TCA	p.S446S	EXOC4_uc011kpo.1_Silent_p.S345S|EXOC4_uc003vri.2_Silent_p.S446S|EXOC4_uc003vrj.2_Silent_p.S446S	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	446					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				GGTTCGAATCGTCCTCCCATG	0.488													A	133164813	G	A	133164813	2	1	191	1	0	0	0	0	0	0	0	1	5306	1132	40	1		1	EXOC4	7	133164813	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	190978	133164813	25973850	852	103872											
LRGUK	136332	broad.mit.edu	37	chr7	133863282	133863282	+	Frame_Shift_Del	DEL	C	C	-													cagtgaataaatatgatcctCcccctgaagtggttgcagct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:133863281_133863281TC>T	uc003vrm.1	+	9	1150	c.1134_1134TC>T	c.(1132-1134)cctfs	p.P378fs		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	378							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						AATATGATCCTCCCCCTGAAG	0.403													-	133863282	C	-	133863282	7	5	191	1	0	1	0	1	0	0	0	0	8943	855	30	0	1173	0	LRGUK	7	133863282	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	698469	133863282	25275381	853	103873											
CNOT4	4850	broad.mit.edu	37	chr7	135047807	135047807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctgtgtgctgaagggggCgctgtggtgggtctgtgatg	20	5	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:135047807C>T	uc011kpy.1	-	11	2064	c.1972G>A	c.(1972-1974)GCC>ACC	p.A658T	CNOT4_uc003vss.2_Missense_Mutation_p.A584T|CNOT4_uc011kpz.1_Missense_Mutation_p.A655T|CNOT4_uc003vst.2_Missense_Mutation_p.A587T	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	322					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				0						CTGAAGGGGGCGCTGTGGTGG	0.587													T	135047807	C	T	135047807	3	4	191	1	0	0	0	0	1	0	0	0	3621	768	27	1	173	1	CNOT4	7	135047807	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1184525	135047807	24090856	854	103874											
MGAM	8972	broad.mit.edu	37	chr7	141795515	141795515	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcctctgctccatgagTgagtgtccagcagggatccc	13	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:141795515T>C	uc003vwy.2	+	41	4973	c.4919_splice	c.e41+2	p.E1640_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTCCATGAGTGAGTGTCCAG	0.473													C	141795515	T	C	141795515	5	2	191	1	0	0	0	0	0	0	1	0	9541	1710	59	3	5079	3	MGAM	7	141795515	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	6747708	141795515	17343148	855	103875											
OR9A2	135924	broad.mit.edu	37	chr7	142723617	142723617	+	Frame_Shift_Del	DEL	A	A	-													atcaaagaaccaatgagaatAaaaacagccattaagaaaag					rs77663674		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:142723616_142723616TA>T	uc003wcc.1	-	0	604	c.604_604TA>A	c.(604-606)attfs	p.I202fs		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	202					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)					CCAATGAGAATAAAAACAGCC	0.443													-	142723617	A	-	142723617	7	5	191	1	0	1	0	1	0	0	0	0	11248	359	13	0	333	0	OR9A2	7	142723617	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	928102	142723617	16415046	856	103876											
SSPO	23145	broad.mit.edu	37	chr7	149508775	149508775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctccgggctcatcGccaactgcagctcctggcct	10	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:149508775G>A	uc010lpk.2	+	68	9514	c.9514G>A	c.(9514-9516)GCC>ACC	p.A3172T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3172					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCTCATCGCCAACTGCAG	0.493													A	149508775	G	A	149508775	3	1	191	1	0	0	0	0	1	0	0	0	15188	1087	38	1	9774	1	SSPO	7	149508775	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6785158	149508775	9629888	857	103877											
KCNH2	3757	broad.mit.edu	37	chr7	150647278	150647278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatggccacgacgacgtcGccccgcaggatctcgatgga	14	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150647278G>A	uc003wic.2	-	9	2389	c.2376C>T	c.(2374-2376)GGC>GGT	p.G792G	KCNH2_uc003wib.2_Silent_p.G452G|KCNH2_uc011kux.1_Silent_p.G696G|KCNH2_uc003wid.2_Silent_p.G452G|KCNH2_uc003wie.2_Silent_p.G792G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	792	Cytoplasmic (Potential).|cNMP.				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			skin(3)|ovary(1)	4	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)	CGACGACGTCGCCCCGCAGGA	0.637													A	150647278	G	A	150647278	2	1	191	1	0	0	0	0	0	0	0	1	8032	1074	38	1		1	KCNH2	7	150647278	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1138503	150647278	8491385	858	103878											
KCNH2	3757	broad.mit.edu	37	chr7	150671835	150671835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgatttccactttgcgctCctcggcgcccagcagtgcct	11	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150671835C>T	uc003wic.2	-	2	284	c.271G>A	c.(271-273)GAG>AAG	p.E91K	KCNH2_uc003wie.2_Missense_Mutation_p.E91K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	91	Cytoplasmic (Potential).				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			skin(3)|ovary(1)	4	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)	ACTTTGCGCTCCTCGGCGCCC	0.493													T	150671835	C	T	150671835	3	4	191	1	0	0	0	0	1	0	0	0	8032	864	30	4	3645	4	KCNH2	7	150671835	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	24557	150671835	8466828	859	103879											
NOS3	4846	broad.mit.edu	37	chr7	150696110	150696110	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcaggccccagatgAtcccccagaactcttccttc	8	17	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150696110A>C	uc003wif.2	+	8	1189	c.893A>C	c.(892-894)GAT>GCT	p.D298A	NOS3_uc011kuy.1_Missense_Mutation_p.D92A|NOS3_uc011kuz.1_Missense_Mutation_p.D298A|NOS3_uc011kva.1_Missense_Mutation_p.D298A|NOS3_uc011kvb.1_Missense_Mutation_p.D298A	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	298	Interaction with NOSIP.				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			central_nervous_system(5)|large_intestine(2)|skin(1)	8	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)	GCCCCAGATGATCCCCCAGAA	0.657													C	150696110	A	C	150696110	3	2	191	1	0	0	0	0	1	0	0	0	10544	333	12	5	919	5	NOS3	7	150696110	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	24275	150696110	8442553	860	103880											
CDK5	1020	broad.mit.edu	37	chr7	150752436	150752436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaaagaggacatccgGtgggcggtaccacagtgtga	15	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150752436G>A	uc003wir.1	-	8	569	c.508C>T	c.(508-510)CCG>TCG	p.P170S	CDK5_uc003wis.1_Missense_Mutation_p.P138S	NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	170	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			lung(1)|central_nervous_system(1)	2		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)		AGGACATCCGGTGGGCGGTAC	0.612													A	150752436	G	A	150752436	3	1	191	1	0	0	0	0	1	0	0	0	3142	1261	44	4	390	4	CDK5	7	150752436	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	56326	150752436	8386227	861	103881											
AGAP3	116988	broad.mit.edu	37	chr7	150814817	150814817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttcctgcgtctctgcaGcttccgcaacgccagcgagg	10	16	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150814817G>A	uc003wjg.1	+	5	662	c.659G>A	c.(658-660)AGC>AAC	p.S220N	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Missense_Mutation_p.S220N|AGAP3_uc010lpy.1_Missense_Mutation_p.S220N|AGAP3_uc003wjh.1_Missense_Mutation_p.S400N	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	184	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)|ovary(1)	3						CGTCTCTGCAGCTTCCGCAAC	0.607													A	150814817	G	A	150814817	3	1	191	1	0	0	0	0	1	0	0	0	369	971	34	2	677	2	AGAP3	7	150814817	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	62381	150814817	8323846	862	103882											
UBE3C	9690	broad.mit.edu	37	chr7	157041136	157041136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttgcttggaaccagtgcCgacgtggacattcaccacct	10	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:157041136C>T	uc010lqs.2	+	19	2868	c.2556C>T	c.(2554-2556)GCC>GCT	p.A852A	UBE3C_uc003wni.3_Silent_p.A215A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	852	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		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)		GAACCAGTGCCGACGTGGACA	0.502													T	157041136	C	T	157041136	2	4	191	1	0	0	0	0	0	0	0	1	16878	639	23	1		1	UBE3C	7	157041136	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6226319	157041136	2097527	863	103883											
VIPR2	7434	broad.mit.edu	37	chr7	158935152	158935152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctttgtgtttttctGtttgagacctcagaagctct	7	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:158935152G>A	uc003woh.2	-	2	323	c.137C>T	c.(136-138)ACA>ATA	p.T46I	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	46	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	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)		GTGTTTTTCTGTTTGAGACCT	0.483													A	158935152	G	A	158935152	3	1	191	1	0	0	0	0	1	0	0	0	17167	1377	48	4	1227	4	VIPR2	7	158935152	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1894016	158935152	203511	864	103884											
CSMD1	64478	broad.mit.edu	37	chr8	3000078	3000078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgctcagcagggccgcGgggagatccgtgccgctaaa	16	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:3000078G>A	uc011kwk.1	-	41	6543	c.6153C>T	c.(6151-6153)CCC>CCT	p.P2051P	CSMD1_uc011kwj.1_Silent_p.P1443P|CSMD1_uc010lrg.2_Silent_p.P119P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2051	Extracellular (Potential).|CUB 12.					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)		GCAGGGCCGCGGGGAGATCCG	0.463													A	3000078	G	A	3000078	2	1	191	1	0	0	0	0	0	0	0	1	3944	1103	39	1		1	CSMD1	8	3000078	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08		3000078	143363944	865	103885											
CSMD1	64478	broad.mit.edu	37	chr8	3045475	3045475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgctccgtggcaaaacTgatcacttggatctaccaaa	8	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:3045475T>C	uc011kwk.1	-	36	5929	c.5539A>G	c.(5539-5541)AGT>GGT	p.S1847G	CSMD1_uc011kwj.1_Missense_Mutation_p.S1239G|CSMD1_uc003wqe.2_Missense_Mutation_p.S1003G|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1847	Extracellular (Potential).|CUB 11.			IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948).		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)		GTGGCAAAACTGATCACTTGG	0.428													C	3045475	T	C	3045475	3	2	191	1	0	0	0	0	1	0	0	0	3944	1580	55	3	5298	3	CSMD1	8	3045475	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	45397	3045475	143318547	866	103886											
TNKS	8658	broad.mit.edu	37	chr8	9567544	9567544	+	Frame_Shift_Del	DEL	A	A	-													aaaaggagcaaatgttaatgAaaaaaataaagagtaagtat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:9567543_9567543GA>G	uc003wss.3	+	9	1662	c.1657_1657GA>G	c.(1657-1659)gaafs	p.E553fs	TNKS_uc011kwv.1_Frame_Shift_Del_p.E553fs|TNKS_uc011kww.2_Frame_Shift_Del_p.E316fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	553					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|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	Golgi membrane|chromosome, centromeric region|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)		AAATGTTAATGAAAAAAATAA	0.343													-	9567544	A	-	9567544	7	5	191	1	0	1	0	1	0	0	0	0	16316	246	9	0	1696	0	TNKS	8	9567544	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	6522069	9567544	136796478	867	103887											
NEIL2	252969	broad.mit.edu	37	chr8	11643587	11643587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacgtggtggagttcagTacagcctggctgcagggcaa	15	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:11643587T>C	uc003wug.2	+	5	1479	c.804T>C	c.(802-804)AGT>AGC	p.S268S	NEIL2_uc003wue.2_Silent_p.S268S|NEIL2_uc003wuf.2_Silent_p.S207S|NEIL2_uc011kxd.1_Silent_p.S152S	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	268					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGAGTTCAGTACAGCCTGGC	0.587								BER_DNA_glycosylases					C	11643587	T	C	11643587	2	2	191	1	0	0	0	0	0	0	0	1	10319	1635	57	3		3	NEIL2	8	11643587	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2076043	11643587	134720435	868	103888											
SLC7A2	6542	broad.mit.edu	37	chr8	17409424	17409424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcccccttcctgtagcGtttgaatatgtgggatgggg	13	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:17409424G>A	uc011kyc.1	+	6	1153	c.984G>A	c.(982-984)GCG>GCA	p.A328A	SLC7A2_uc011kyd.1_Silent_p.A368A|SLC7A2_uc011kye.1_Silent_p.A368A|SLC7A2_uc011kyf.1_Silent_p.A328A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	328	Extracellular (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCCTGTAGCGTTTGAATATG	0.502													A	17409424	G	A	17409424	2	1	191	1	0	0	0	0	0	0	0	1	14697	1132	40	1		1	SLC7A2	8	17409424	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5765837	17409424	128954598	869	103889											
FGL1	2267	broad.mit.edu	37	chr8	17726129	17726129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgatctctgtcccacGtgctgaatttcattctttgg	8	10	4	2	rs146098986		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:17726129G>A	uc003wxx.2	-	8	1031	c.707C>T	c.(706-708)ACG>ATG	p.T236M	FGL1_uc003wxy.2_Missense_Mutation_p.T236M|FGL1_uc003wxz.2_Missense_Mutation_p.T235M|FGL1_uc003wya.2_Missense_Mutation_p.T236M|FGL1_uc003wyb.2_Missense_Mutation_p.T236M|FGL1_uc003wyc.2_Missense_Mutation_p.T236M|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.T286M|FGL1_uc003wyf.2_Missense_Mutation_p.T206M	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	236	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCTGTCCCACGTGCTGAATTT	0.453													A	17726129	G	A	17726129	3	1	191	1	0	0	0	0	1	0	0	0	5872	1145	40	1	239	1	FGL1	8	17726129	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	316705	17726129	128637893	870	103890											
NAT2	10	broad.mit.edu	37	chr8	18257712	18257712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaagaaaccggggtgggTggtgtctccaggtcaatcaa	14	7	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:18257712T>C	uc003wyw.1	+	2	306	c.199T>C	c.(199-201)TGG>CGG	p.W67R		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	67					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CCGGGGTGGGTGGTGTCTCCA	0.463									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				C	18257712	T	C	18257712	3	2	191	1	0	0	0	0	1	0	0	0	10177	1696	59	3	201	3	NAT2	8	18257712	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	531583	18257712	128106310	871	103891											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19263296	19263296	+	Frame_Shift_Del	DEL	T	T	-													tccttctctgggagttcatgTttttttgctacttgtcttct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:19263295_19263295GT>G	uc011kyn.2	-	9	2659	c.1595_1595AC>C	c.(1594-1596)acafs	p.T532fs	CSGALNACT1_uc011kyo.2_Frame_Shift_Del_p.T532fs|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Frame_Shift_Del_p.T532fs	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	532					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|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	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)		GGGAGTTCATGTTTTTTTGCT	0.463													-	19263296	T	-	19263296	7	5	191	1	0	1	0	1	0	0	0	0	3938	1725	60	0	8	0	CSGALNACT1	8	19263296	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1005584	19263296	127100726	872	103892											
ATP6V1B2	526	broad.mit.edu	37	chr8	20070374	20070374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagaaacatgtattggtTattctaacagacatgagttc	9	5	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:20070374T>C	uc003wzp.2	+	9	1099	c.885T>C	c.(883-885)GTT>GTC	p.V295V		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	295					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				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		ATGTATTGGTTATTCTAACAG	0.393													C	20070374	T	C	20070374	2	2	191	1	0	0	0	0	0	0	0	1	1179	1741	61	3		3	ATP6V1B2	8	20070374	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	807078	20070374	126293648	873	103893											
NPM2	10361	broad.mit.edu	37	chr8	21891670	21891675	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-													aggaagaagaaggggaggagGaggaagaggaagaggaagat					rs145115346		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:21891669_21891674GGAGGAA>G	uc003xac.3	+	6	1044_1049	c.414_419GGAGGAA>G	c.(412-420)gaggaggaa>gaGa	p.138_140EEE>E	NPM2_uc003xad.3_In_Frame_Del_p.138_140EEE>E|NPM2_uc003xae.3_In_Frame_Del_p.138_140EEE>E|NPM2_uc003xaf.3_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA.	138	Poly-Glu.				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		aaggggaggaggaggaagaggaagag	0.519													-	21891675	GAGGAA	-	21891670	7	5	191	1	0	1	0	1	0	0	0	0	10588	1175	41	0	433	0	NPM2	8	21891670	In_Frame_Del	DEL	GAGGAA	TCGA-CG-5723-01A-11D-1600-08	1821296	21891670	124472352	874	103894											
EPB49	2039	broad.mit.edu	37	chr8	21926552	21926552	+	Frame_Shift_Del	DEL	C	C	-													gctgtcacccaaatccacatCccccccaccatccccagagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:21926551_21926551TC>T	uc022asw.1	+	3	312	c.274_274TC>T	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Del_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Del_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Del_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Del_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CAAATCCACATCCCCCCCACC	0.607													-	21926552	C	-	21926552	7	5	191	1	0	1	0	1	0	0	0	0	5159	855	30	0	289	0	EPB49	8	21926552	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	34882	21926552	124437470	875	103895											
REEP4	80346	broad.mit.edu	37	chr8	21997010	21997010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacggtctcgtagctgcgCtccttggcctgcacgatgta	12	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:21997010C>T	uc003xau.1	-	5	789	c.336G>A	c.(334-336)GAG>GAA	p.E112E	REEP4_uc010ltt.1_Silent_p.E112E|REEP4_uc011kyz.1_Silent_p.E112E	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	112						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CGTAGCTGCGCTCCTTGGCCT	0.642													T	21997010	C	T	21997010	2	4	191	1	0	0	0	0	0	0	0	1	13207	796	28	2		2	REEP4	8	21997010	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	70458	21997010	124367012	876	103896											
PIWIL2	55124	broad.mit.edu	37	chr8	22140652	22140652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtaccttcagcacaccGtcccggggtcccccgcagct	9	20	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:22140652G>A	uc003xbn.2	+	5	679	c.531G>A	c.(529-531)CCG>CCA	p.P177P	PIWIL2_uc011kzf.1_Silent_p.P177P|PIWIL2_uc010ltv.2_Silent_p.P177P	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	177					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			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCAGCACACCGTCCCGGGGTC	0.577													A	22140652	G	A	22140652	2	1	191	1	0	0	0	0	0	0	0	1	11958	1132	40	1		1	PIWIL2	8	22140652	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	143642	22140652	124223370	877	103897											
SORBS3	10174	broad.mit.edu	37	chr8	22415705	22415705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattcaccggaaaatgccaGgtaagatacccttccagggc	10	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:22415705G>A	uc003xbv.2	+	5	818	c.478G>A	c.(478-480)GAC>AAC	p.D160N	SORBS3_uc011kzk.1_RNA	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	160	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		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)		GAAAATGCCAGGTAAGATACC	0.547													A	22415705	G	A	22415705	3	1	191	1	0	0	0	0	1	0	0	0	14929	1014	35	4	492	4	SORBS3	8	22415705	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	275053	22415705	123948317	878	103898											
PDLIM2	64236	broad.mit.edu	37	chr8	22452098	22452098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaagctttggaggggaTggtggagggcgccaagcgga	20	6	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:22452098T>C	uc003xcc.1	+	10	1171	c.1037T>C	c.(1036-1038)ATG>ACG	p.M346T		NM_176871	NP_789847	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 1	Error:Variant_position_missing_in_Q96JY6_after_alignment						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		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)		TTGGAGGGGATGGTGGAGGGC	0.552													C	22452098	T	C	22452098	3	2	191	1	0	0	0	0	1	0	0	0	11680	1464	51	3	1153	3	PDLIM2	8	22452098	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	36393	22452098	123911924	879	103899											
EBF2	64641	broad.mit.edu	37	chr8	25718687	25718687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagctggctgggattcCtggggacgctgtagagagct	17	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:25718687C>T	uc003xes.1	-	13	1237	c.1220G>A	c.(1219-1221)AGG>AAG	p.R407K	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	407					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		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)		GCTGGGATTCCTGGGGACGCT	0.522													T	25718687	C	T	25718687	3	4	191	1	0	0	0	0	1	0	0	0	4881	681	24	4	523	4	EBF2	8	25718687	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3266589	25718687	120645335	880	103900											
SCARA3	51435	broad.mit.edu	37	chr8	27516154	27516154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccagaccttacaggCccaggaggtgctctccacca	11	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:27516154C>T	uc003xga.1	+	5	608	c.467C>T	c.(466-468)GCC>GTC	p.A156V	SCARA3_uc003xgb.1_Missense_Mutation_p.A156V	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	156	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTTACAGGCCCAGGAGGTG	0.597													T	27516154	C	T	27516154	3	4	191	1	0	0	0	0	1	0	0	0	13879	739	26	2	485	2	SCARA3	8	27516154	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1797467	27516154	118847868	881	103901											
FZD3	7976	broad.mit.edu	37	chr8	28409242	28409242	+	Frame_Shift_Del	DEL	T	T	-													acatgctttgaatgggccagTttttttcatggtcgtaggaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:28409241_28409241GT>G	uc003xgx.3	+	5	2055	c.1526_1526GT>G	c.(1525-1527)agtfs	p.S509fs	FZD3_uc010lvb.3_Frame_Shift_Del_p.S509fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	509					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.A508A(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAATGGGCCAGTTTTTTTCAT	0.358													-	28409242	T	-	28409242	7	5	191	1	0	1	0	1	0	0	0	0	6131	1722	60	0	1541	0	FZD3	8	28409242	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	893088	28409242	117954780	882	103902											
PURG	29942	broad.mit.edu	37	chr8	30889719	30889719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtctaatccgtaggaagcGaccccgctgattttccttta	8	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:30889719G>A	uc003xin.2	-	1	599	c.580C>T	c.(580-582)CGC>TGC	p.R194C	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.R194C	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	194	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CGTAGGAAGCGACCCCGCTGA	0.488													A	30889719	G	A	30889719	3	1	191	1	0	0	0	0	1	0	0	0	12829	1058	37	1	576	1	PURG	8	30889719	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2480477	30889719	115474303	883	103903											
NRG1	3084	broad.mit.edu	37	chr8	32617802	32617802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaaacagtaggcacagCagcccaactgggggcccaag	13	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:32617802C>T	uc003xiv.2	+	11	1663	c.1146C>T	c.(1144-1146)AGC>AGT	p.S382S	NRG1_uc011lbf.1_Silent_p.S379S|NRG1_uc010lvo.2_Silent_p.S379S|NRG1_uc003xiu.2_Silent_p.S387S|NRG1_uc003xiw.2_Silent_p.S379S|NRG1_uc003xit.2_Silent_p.S382S|NRG1_uc010lvr.2_Silent_p.S124S|NRG1_uc010lvs.2_Silent_p.S124S|NRG1_uc010lvp.2_Silent_p.S336S|NRG1_uc010lvq.2_Silent_p.S319S|NRG1_uc011lbg.1_Silent_p.S228S|NRG1_uc011lbh.1_Silent_p.S225S|NRG1_uc003xja.2_Silent_p.S193S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	382	Cytoplasmic (Potential).				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|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|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTAGGCACAGCAGCCCAACTG	0.542													T	32617802	C	T	32617802	2	4	191	1	0	0	0	0	0	0	0	1	10647	709	25	2		2	NRG1	8	32617802	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1728083	32617802	113746220	884	103904											
ERLIN2	11160	broad.mit.edu	37	chr8	37597886	37597886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccctcctctgcagaggCggtgccctgctgacttcgac	10	17	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:37597886C>T	uc003xke.3	+	3	226	c.111C>T	c.(109-111)GGC>GGT	p.G37G	uc003xkb.1_5'Flank|ERLIN2_uc003xkc.3_Silent_p.G37G|ERLIN2_uc003xkd.2_Silent_p.G37G|ERLIN2_uc003xkf.3_Silent_p.G37G|ERLIN2_uc003xkg.2_Silent_p.G37G	NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	37	Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCTGCAGAGGCGGTGCCCTGC	0.512													T	37597886	C	T	37597886	2	4	191	1	0	0	0	0	0	0	0	1	5233	755	27	1		1	ERLIN2	8	37597886	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4980084	37597886	108766136	885	103905											
GPR124	25960	broad.mit.edu	37	chr8	37688981	37688981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggcgtgtgggcctcaggcGagtgggagtgcaccgtgtcc	18	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:37688981G>A	uc003xkj.2	+	8	1336	c.973G>A	c.(973-975)GAG>AAG	p.E325K	GPR124_uc010lvy.2_Missense_Mutation_p.E325K	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	325	Extracellular (Potential).|Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCCTCAGGCGAGTGGGAGTG	0.662													A	37688981	G	A	37688981	3	1	191	1	0	0	0	0	1	0	0	0	6638	1059	37	1	982	1	GPR124	8	37688981	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	91095	37688981	108675041	886	103906											
TM2D2	83877	broad.mit.edu	37	chr8	38851132	38851132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaattccatctaaggcatgGcactggactgaagtgtgttc	10	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:38851132G>A	uc003xmk.2	-	3	446	c.363C>T	c.(361-363)TGC>TGT	p.C121C	TM2D2_uc003xml.2_Silent_p.C78C|TM2D2_uc003xmm.2_Silent_p.C78C|TM2D2_uc003xmn.2_Silent_p.C78C	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	121						integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTAAGGCATGGCACTGGACTG	0.453													A	38851132	G	A	38851132	2	1	191	1	0	0	0	0	0	0	0	1	15961	1195	42	2		2	TM2D2	8	38851132	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1162151	38851132	107512890	887	103907											
IKBKB	3551	broad.mit.edu	37	chr8	42178357	42178357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggggggaacgctggaCgacctgtgagtactggctgg	18	8	0	1	rs148836092		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:42178357C>T	uc003xow.1	+	16	1860	c.1683C>T	c.(1681-1683)GAC>GAT	p.D561D	IKBKB_uc010lxh.1_3'UTR|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.D338D|IKBKB_uc003xox.1_Silent_p.D282D|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.D559D|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.D502D	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	561					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(3)|ovary(2)|lung(1)|skin(1)	7	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)	GAACGCTGGACGACCTGTGAG	0.617													T	42178357	C	T	42178357	2	4	191	1	0	0	0	0	0	0	0	1	7611	535	19	1		1	IKBKB	8	42178357	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3327225	42178357	104185665	888	103908											
RB1CC1	9821	broad.mit.edu	37	chr8	53568877	53568877	+	Frame_Shift_Del	DEL	T	T	-													caattatttgttcttttaggTttttttctatttcaaatgct					rs138517468		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:53568876_53568876GT>G	uc003xre.4	-	14	4071	c.3513_3513AC>C	c.(3511-3513)aacfs	p.N1171fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.N1171fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1171					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.N1171fs*8(2)		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)				GTTCTTTTAGGTTTTTTTCTA	0.289													-	53568877	T	-	53568877	7	5	191	1	0	1	0	1	0	0	0	0	13099	1725	60	0	1312	0	RB1CC1	8	53568877	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	11390520	53568877	92795145	889	103909											
RB1CC1	9821	broad.mit.edu	37	chr8	53569498	53569498	+	Frame_Shift_Del	DEL	T	T	-													catcattttcaacatggagcTtttttaagtcttctaacact							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:53569497_53569497CT>C	uc003xre.4	-	14	3450	c.2892_2892AG>G	c.(2890-2892)aagfs	p.K964fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.K964fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	964					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	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)				CAACATGGAGCTTTTTTAAGT	0.353													-	53569498	T	-	53569498	7	5	191	1	0	1	0	1	0	0	0	0	13099	1609	56	0	1933	0	RB1CC1	8	53569498	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	621	53569498	92794524	890	103910											
NPBWR1	2831	broad.mit.edu	37	chr8	53852765	53852765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgccgacttcctgctgCggcagtggcccttcggggag	14	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:53852765C>T	uc011ldu.1	+	1	298	c.298C>T	c.(298-300)CGG>TGG	p.R100W		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	100	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CTTCCTGCTGCGGCAGTGGCC	0.597													T	53852765	C	T	53852765	3	4	191	1	0	0	0	0	1	0	0	0	10568	759	27	1	300	1	NPBWR1	8	53852765	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	283267	53852765	92511257	891	103911											
PENK	5179	broad.mit.edu	37	chr8	57358398	57358398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagttgatgtcggccgggcGcactaggcggtagctgcacg	17	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:57358398G>A	uc003xsz.2	-	1	196	c.115C>T	c.(115-117)CGC>TGC	p.R39C	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.R39C|PENK_uc010lym.2_Missense_Mutation_p.R39C	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	39					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGGCCGGGCGCACTAGGCGG	0.657													A	57358398	G	A	57358398	3	1	191	1	0	0	0	0	1	0	0	0	11727	1087	38	1	696	1	PENK	8	57358398	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3505633	57358398	89005624	892	103912											
PENK	5179	broad.mit.edu	37	chr8	57358505	57358505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcaaagtgtcaggaacCgcgccatggactgcgaggag	15	9	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:57358505C>T	uc003xsz.2	-	1	89	c.8G>A	c.(7-9)CGG>CAG	p.R3Q	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.R3Q|PENK_uc010lym.2_Missense_Mutation_p.R3Q	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	3					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TGTCAGGAACCGCGCCATGGA	0.697													T	57358505	C	T	57358505	3	4	191	1	0	0	0	0	1	0	0	0	11727	652	23	1	803	1	PENK	8	57358505	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	107	57358505	89005517	893	103913											
CYP7A1	1581	broad.mit.edu	37	chr8	59409729	59409729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatttccatccatcgggtcAatgcttctgtgcccaaatgc	8	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:59409729A>C	uc003xtm.3	-	3	405	c.342T>G	c.(340-342)ATT>ATG	p.I114M		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	114					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			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCATCGGGTCAATGCTTCTGT	0.408									Neonatal_Giant_Cell_Hepatitis				C	59409729	A	C	59409729	3	2	191	1	0	0	0	0	1	0	0	0	4196	126	5	5	1188	5	CYP7A1	8	59409729	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2051224	59409729	86954293	894	103914											
CYP7B1	9420	broad.mit.edu	37	chr8	65509466	65509466	+	Frame_Shift_Del	DEL	A	A	-													ttcttcttaccatcttctatAaaacgatcatatctaaactc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:65509465_65509465TA>T	uc003xvj.2	-	5	1459	c.1255_1255TA>A	c.(1255-1257)atafs	p.I419fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	419					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)				CCATCTTCTATAAAACGATCA	0.363													-	65509466	A	-	65509466	7	5	191	1	0	1	0	1	0	0	0	0	4197	359	13	0	270	0	CYP7B1	8	65509466	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	6099737	65509466	80854556	895	103915											
ARMC1	55156	broad.mit.edu	37	chr8	66534566	66534566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttttctctgtttgcacgGcattctgccaagtatcgaag	8	10	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:66534566G>A	uc003xvl.2	-	3	442	c.207C>T	c.(205-207)TGC>TGT	p.C69C	ARMC1_uc011leo.1_Missense_Mutation_p.P31S	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	69	ARM.				metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TGTTTGCACGGCATTCTGCCA	0.353													A	66534566	G	A	66534566	2	1	191	1	0	0	0	0	0	0	0	1	949	1195	42	2		2	ARMC1	8	66534566	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1025100	66534566	79829456	896	103916											
VCPIP1	80124	broad.mit.edu	37	chr8	67547088	67547088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatttcctgcaatttttttCgctgggcctcaaccaaatca	5	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:67547088C>T	uc003xwn.2	-	3	3576	c.3317G>A	c.(3316-3318)CGA>CAA	p.R1106Q		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1106					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		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)			CAATTTTTTTCGCTGGGCCTC	0.453													T	67547088	C	T	67547088	3	4	191	1	0	0	0	0	1	0	0	0	17138	884	31	1	355	1	VCPIP1	8	67547088	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1012522	67547088	78816934	897	103917											
CPA6	57094	broad.mit.edu	37	chr8	68396023	68396023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacttcactttccagTttctattggcatccactcca	3	16	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:68396023T>C	uc003xxq.3	-	8	1074	c.818A>G	c.(817-819)AAC>AGC	p.N273S	CPA6_uc003xxr.3_Missense_Mutation_p.N125S|CPA6_uc003xxs.2_Missense_Mutation_p.N273S	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	273					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CACTTTCCAGTTTCTATTGGC	0.443													C	68396023	T	C	68396023	3	2	191	1	0	0	0	0	1	0	0	0	3794	1725	60	3	511	3	CPA6	8	68396023	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	848935	68396023	77967999	898	103918											
PREX2	80243	broad.mit.edu	37	chr8	68942753	68942753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgctgaagcggactccaCggaaacacagtgactatgca	11	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:68942753C>T	uc003xxv.1	+	6	592	c.565C>T	c.(565-567)CGG>TGG	p.R189W	PREX2_uc003xxu.1_Missense_Mutation_p.R189W|PREX2_uc011lez.1_Missense_Mutation_p.R124W	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	189	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCGGACTCCACGGAAACACAG	0.463													T	68942753	C	T	68942753	3	4	191	1	0	0	0	0	1	0	0	0	12477	527	19	1	587	1	PREX2	8	68942753	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	546730	68942753	77421269	899	103919											
KCNB2	9312	broad.mit.edu	37	chr8	73480397	73480398	+	Frame_Shift_Ins	INS	-	-	A													tgccaggccagatatcatcaINSaaaaaaagaacaaatgaacg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:73480396_73480397C>CA	uc003xzb.3	+	1	1015_1016	c.427_428C>CA	c.(427-429)caafs	p.Q143fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(2)|p.E146fs*3(1)		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)			CAGATATCATCAAAAAAAAGAA	0.446													A	73480398	-	A	73480397	7	5	191	1	0	1	1	0	0	0	0	0	8013	130	5	0	430	0	KCNB2	8	73480397	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	4537644	73480397	72883625	900	103920											
KCNB2	9312	broad.mit.edu	37	chr8	73849351	73849351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacaggagcagctggcCgtggcacagaccgaggtcat	14	12	1	1	rs141923254		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:73849351C>T	uc003xzb.2	+	3	2349	c.1761C>T	c.(1759-1761)GCC>GCT	p.A587A		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	587	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AGCAGCTGGCCGTGGCACAGA	0.547													T	73849351	C	T	73849351	2	4	191	1	0	0	0	0	0	0	0	1	8013	639	23	1		1	KCNB2	8	73849351	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	368954	73849351	72514671	901	103921											
KCNB2	9312	broad.mit.edu	37	chr8	73849869	73849869	+	Frame_Shift_Del	DEL	C	C	-													taccatcctcttagaagaaaCcccctcccagggagacagac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:73849868_73849868AC>A	uc003xzb.3	+	2	2866	c.2278_2278AC>A	c.(2278-2280)accfs	p.T760fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	760					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)			CTTAGAAGAAACCCCCTCCCA	0.592													-	73849869	C	-	73849869	7	5	191	1	0	1	0	1	0	0	0	0	8013	507	18	0	2285	0	KCNB2	8	73849869	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	518	73849869	72514153	902	103922											
PI15	51050	broad.mit.edu	37	chr8	75737662	75737662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaaagccaggcggaagCgctacatttcgcagaatgac	10	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:75737662C>T	uc003yal.2	+	2	357	c.178C>T	c.(178-180)CGC>TGC	p.R60C	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R60C	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	60						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAGGCGGAAGCGCTACATTTC	0.448													T	75737662	C	T	75737662	3	4	191	1	0	0	0	0	1	0	0	0	11868	768	27	1	180	1	PI15	8	75737662	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1887793	75737662	70626360	903	103923											
HNF4G	3174	broad.mit.edu	37	chr8	76471161	76471161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttggagagttgcttctgCtcctgcccacactgcagagc	12	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:76471161C>T	uc003yaq.2	+	9	1141	c.871C>T	c.(871-873)CTC>TTC	p.L291F	HNF4G_uc003yar.2_Missense_Mutation_p.L328F	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	291					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			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTGCTTCTGCTCCTGCCCAC	0.433													T	76471161	C	T	76471161	3	4	191	1	0	0	0	0	1	0	0	0	7254	797	28	2	1012	2	HNF4G	8	76471161	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	733499	76471161	69892861	904	103924											
ZFHX4	79776	broad.mit.edu	37	chr8	77765551	77765551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacattctcagttcaaacgcCcacggacaagaattacagat	7	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:77765551C>A	uc003yav.2	+	10	6646	c.6259C>A	c.(6259-6261)CCA>ACA	p.P2087T	ZFHX4_uc003yau.1_Missense_Mutation_p.P2132T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2087T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2087	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTTCAAACGCCCACGGACAAG	0.453										HNSCC(33;0.089)			A	77765551	C	A	77765551	3	1	191	1	0	0	0	0	1	0	0	0	17632	623	22	5	6428	5	ZFHX4	8	77765551	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1294390	77765551	68598471	905	103925											
KIAA1429	25962	broad.mit.edu	37	chr8	95502202	95502202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtaatggtggaagagggCctctgttaaaattgctctgg	14	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:95502202C>T	uc003ygo.1	-	23	5262	c.5249G>A	c.(5248-5250)GGC>GAC	p.G1750D	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1750					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGGAAGAGGGCCTCTGTTAAA	0.448													T	95502202	C	T	95502202	3	4	191	1	0	0	0	0	1	0	0	0	8231	739	26	2	197	2	KIAA1429	8	95502202	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	17736651	95502202	50861820	906	103926											
GDF6	392255	broad.mit.edu	37	chr8	97156813	97156813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagccgcacgactccAccaccatgtcctcgtactgc	7	19	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:97156813A>G	uc003yhp.2	-	2	1446	c.1346T>C	c.(1345-1347)GTG>GCG	p.V449A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	449					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			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCACGACTCCACCACCATGTC	0.622													G	97156813	A	G	97156813	3	3	191	1	0	0	0	0	1	0	0	0	6317	159	6	3	25	3	GDF6	8	97156813	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1654611	97156813	49207209	907	103927											
MTERFD1	51001	broad.mit.edu	37	chr8	97270799	97270799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgaggctgagcagaaaaGccatgtaacagtgttcttgc	11	8	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:97270799G>A	uc003yhs.1	-	2	198	c.120C>T	c.(118-120)GGC>GGT	p.G40G	MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Silent_p.G40G	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	40					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)					GAGCAGAAAAGCCATGTAACA	0.423													A	97270799	G	A	97270799	2	1	191	1	0	0	0	0	0	0	0	1	9919	958	34	2		2	MTERFD1	8	97270799	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	113986	97270799	49093223	908	103928											
VPS13B	157680	broad.mit.edu	37	chr8	100866205	100866205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcctaacagcaggttgGctggtcactccacacacctc	7	16	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:100866205G>A	uc003yiv.2	+	56	10774	c.10663G>A	c.(10663-10665)GCT>ACT	p.A3555T	VPS13B_uc003yiw.2_Missense_Mutation_p.A3530T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3555					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGCAGGTTGGCTGGTCACTC	0.488													A	100866205	G	A	100866205	3	1	191	1	0	0	0	0	1	0	0	0	17187	1203	42	2	11075	2	VPS13B	8	100866205	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3595406	100866205	45497817	909	103929											
UBR5	51366	broad.mit.edu	37	chr8	103297393	103297393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaagctagcttcttctcgCgcagtcatcctctctcttct	6	15	6	0	rs145137858	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:103297393C>T	uc003ykr.1	-	40	5691	c.5658G>A	c.(5656-5658)GCG>GCA	p.A1886A	UBR5_uc003yks.1_Silent_p.A1886A	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1886					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			CTTCTTCTCGCGCAGTCATCC	0.403													T	103297393	C	T	103297393	2	4	191	1	0	0	0	0	0	0	0	1	16902	755	27	1		1	UBR5	8	103297393	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2431188	103297393	43066629	910	103930											
FZD6	8323	broad.mit.edu	37	chr8	104340619	104340619	+	Frame_Shift_Del	DEL	T	T	-													catgcacagaatgggctgggTtttttaaacgaaatcgcaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:104340618_104340618GT>G	uc003ylh.3	+	4	1805	c.1515_1515GT>G	c.(1513-1515)gggfs	p.G505fs	FZD6_uc011lhn.2_Frame_Shift_Del_p.G473fs|FZD6_uc003ylj.3_Frame_Shift_Del_p.G505fs|FZD6_uc011lho.2_Frame_Shift_Del_p.G200fs|FZD6_uc011lhp.2_Frame_Shift_Del_p.G450fs	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	505					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|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)			AATGGGCTGGGTTTTTTAAAC	0.333													-	104340619	T	-	104340619	7	5	191	1	0	1	0	1	0	0	0	0	6134	1725	60	0	1530	0	FZD6	8	104340619	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1043226	104340619	42023403	911	103931											
TM7SF4	81501	broad.mit.edu	37	chr8	105361783	105361783	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaaagcttgccagggtttGaggttcacttgaaactgcac	10	9	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:105361783G>T	uc003ylx.1	+	2	1052	c.1003G>T	c.(1003-1005)GAG>TAG	p.E335*		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	335					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAGGGTTTGAGGTTCACTT	0.363													T	105361783	G	T	105361783	4	4	191	1	0	0	0	0	0	1	0	0	15973	1291	45	5	1005	5	TM7SF4	8	105361783	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1021164	105361783	41002239	912	103932											
DPYS	1807	broad.mit.edu	37	chr8	105459576	105459576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaattaagtctccattttcCgcatggacctgggcaattgc	9	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:105459576C>T	uc003yly.3	-	3	708	c.579G>A	c.(577-579)GCG>GCA	p.A193A		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	193					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCATTTTCCGCATGGACCT	0.453													T	105459576	C	T	105459576	2	4	191	1	0	0	0	0	0	0	0	1	4746	639	23	1		1	DPYS	8	105459576	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	97793	105459576	40904446	913	103933											
ZFPM2	23414	broad.mit.edu	37	chr8	106815064	106815064	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcataataaaatgtgagaaAaatgggaatttgaagcagcc	10	4	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:106815064A>G	uc003ymd.2	+	8	2777	c.2754A>G	c.(2752-2754)AAA>AAG	p.K918K	ZFPM2_uc011lhs.1_Silent_p.K649K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	918					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATGTGAGAAAAATGGGAATT	0.458													G	106815064	A	G	106815064	2	3	191	1	0	0	0	0	0	0	0	1	17655	11	1	3		3	ZFPM2	8	106815064	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1355488	106815064	39548958	914	103934											
OXR1	55074	broad.mit.edu	37	chr8	107723021	107723021	+	Splice_Site	DEL	A	A	-													tgctgtgccacaagaaaggtAaaaaacccatacgacacctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:107723020_107723020TA>T	uc011lht.2	+	9	1895	c.1796_splice	c.e9+2	p.R599_splice	OXR1_uc022azp.1_Splice_Site_p.R598_splice|OXR1_uc003ymf.3_Splice_Site_p.R598_splice|OXR1_uc011lhu.2_Splice_Site_p.R591_splice|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Splice_Site_p.R296_splice	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	599					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)			ACAAGAAAGGTAAAAAACCCA	0.333													-	107723021	A	-	107723021	8	5	191	1	0	1	0	1	0	0	1	0	11334	377	13	0		0	OXR1	8	107723021	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	907957	107723021	38641001	915	103935											
RSPO2	340419	broad.mit.edu	37	chr8	109001362	109001362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcactctccatactggcGcatcccttctcttcgaagga	8	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:109001362G>A	uc003yms.2	-	3	863	c.205C>T	c.(205-207)CGC>TGC	p.R69C	RSPO2_uc003ymq.2_Missense_Mutation_p.R2C|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	69					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCATACTGGCGCATCCCTTCT	0.473													A	109001362	G	A	109001362	3	1	191	1	0	0	0	0	1	0	0	0	13710	1087	38	1	542	1	RSPO2	8	109001362	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1278341	109001362	37362660	916	103936											
ENY2	56943	broad.mit.edu	37	chr8	110348379	110348379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaagatgaacaaagatgCgcagatgagagcagcgatta	12	6	0	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:110348379C>T	uc003ynd.2	+	2	91	c.29C>T	c.(28-30)GCG>GTG	p.A10V	NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.A5V	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	10					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AACAAAGATGCGCAGATGAGA	0.363													T	110348379	C	T	110348379	3	4	191	1	0	0	0	0	1	0	0	0	5146	768	27	1	35	1	ENY2	8	110348379	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1347017	110348379	36015643	917	103937											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509434	110509434	+	Frame_Shift_Del	DEL	T	T	-													ggttgacaatggaatggccaTttttccaatgatttacatgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:110509433_110509433AT>A	uc003yne.3	+	64	10635	c.10531_10531AT>A	c.(10531-10533)attfs	p.I3511fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3511					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.M3511I(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)			TGGAATGGCCATTTTTCCAAT	0.353										HNSCC(38;0.096)			-	110509434	T	-	110509434	7	5	191	1	0	1	0	1	0	0	0	0	11972	1493	52	0	10790	0	PKHD1L1	8	110509434	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	161055	110509434	35854588	918	103938											
SYBU	55638	broad.mit.edu	37	chr8	110588045	110588045	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttttggatgtttatgTccacaaaatatttctgaatg	7	5	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:110588045T>A	uc003ynj.3	-	7	1245	c.1082A>T	c.(1081-1083)GAC>GTC	p.D361V	SYBU_uc003yni.3_Missense_Mutation_p.D358V|SYBU_uc003ynk.3_Missense_Mutation_p.D242V|SYBU_uc010mco.2_Missense_Mutation_p.D360V|SYBU_uc003ynl.3_Missense_Mutation_p.D360V|SYBU_uc010mcp.2_Missense_Mutation_p.D361V|SYBU_uc010mcq.2_Missense_Mutation_p.D361V|SYBU_uc003yno.3_Missense_Mutation_p.D242V|SYBU_uc010mcr.2_Missense_Mutation_p.D361V|SYBU_uc003ynm.3_Missense_Mutation_p.D360V|SYBU_uc003ynn.3_Missense_Mutation_p.D360V|SYBU_uc010mcs.2_Missense_Mutation_p.D242V|SYBU_uc010mct.2_Missense_Mutation_p.D361V|SYBU_uc010mcu.2_Missense_Mutation_p.D360V|SYBU_uc003ynp.3_Missense_Mutation_p.D293V|SYBU_uc010mcv.2_Missense_Mutation_p.D361V|SYBU_uc003ynh.3_Missense_Mutation_p.D155V|SYBU_uc011lhw.1_Missense_Mutation_p.D231V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	361	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GATGTTTATGTCCACAAAATA	0.448													A	110588045	T	A	110588045	3	1	191	1	0	0	0	0	1	0	0	0	15424	1667	58	5	913	5	SYBU	8	110588045	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	78611	110588045	35775977	919	103939											
CSMD3	114788	broad.mit.edu	37	chr8	113871489	113871489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagattagagccacacGttttcactaaaagagaaatt	7	7	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:113871489G>A	uc003ynu.2	-	11	1799	c.1640C>T	c.(1639-1641)ACG>ATG	p.T547M	CSMD3_uc003ynt.2_Missense_Mutation_p.T507M|CSMD3_uc011lhx.1_Missense_Mutation_p.T443M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	547	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGAGCCACACGTTTTCACTAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113871489	G	A	113871489	3	1	191	1	0	0	0	0	1	0	0	0	3946	1145	40	1	9727	1	CSMD3	8	113871489	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3283444	113871489	32492533	920	103940											
EXT1	2131	broad.mit.edu	37	chr8	118847717	118847717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatcgcctatgacggcaGcttggttccaattaatcact	7	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:118847717G>A	uc003yok.1	-	3	1903	c.1130C>T	c.(1129-1131)GCT>GTT	p.A377V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	377	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TATGACGGCAGCTTGGTTCCA	0.488			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				A	118847717	G	A	118847717	3	1	191	1	0	0	0	0	1	0	0	0	5323	971	34	2	1146	2	EXT1	8	118847717	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4976228	118847717	27516305	921	103941											
SNTB1	6641	broad.mit.edu	37	chr8	121823613	121823613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacggacaggatggcgtcGcccacgtacagggcttgggt	15	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:121823613G>A	uc010mdg.2	-	1	697	c.471C>T	c.(469-471)GGC>GGT	p.G157G	SNTB1_uc003ype.2_Silent_p.G157G	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	157	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGATGGCGTCGCCCACGTACA	0.647													A	121823613	G	A	121823613	2	1	191	1	0	0	0	0	0	0	0	1	14872	1074	38	1		1	SNTB1	8	121823613	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2975896	121823613	24540409	922	103942											
ZHX2	22882	broad.mit.edu	37	chr8	123965008	123965008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcccccgaacccaagCgtccacacatcgctcaggtg	9	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:123965008C>T	uc003ypk.1	+	3	1825	c.1258C>T	c.(1258-1260)CGT>TGT	p.R420C		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	420	Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAACCCAAGCGTCCACACAT	0.617													T	123965008	C	T	123965008	3	4	191	1	0	0	0	0	1	0	0	0	17673	768	27	1	1260	1	ZHX2	8	123965008	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2141395	123965008	22399014	923	103943											
ATAD2	29028	broad.mit.edu	37	chr8	124371546	124371546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttagagctgctatatgatTagacaggccaccaacactat	7	9	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:124371546T>C	uc003yqh.3	-	11	1405	c.1297A>G	c.(1297-1299)AAT>GAT	p.N433D	ATAD2_uc011lii.1_Missense_Mutation_p.N224D|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.N433D	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTATATGATTAGACAGGCCA	0.358													C	124371546	T	C	124371546	3	2	191	1	0	0	0	0	1	0	0	0	1071	1754	61	3	2947	3	ATAD2	8	124371546	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	406538	124371546	21992476	924	103944											
FER1L6	654463	broad.mit.edu	37	chr8	125022838	125022838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaattgttttcacaggaatTacaactatttgccatttgag	6	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:125022838T>C	uc003yqw.2	+	14	1911	c.1705T>C	c.(1705-1707)TAC>CAC	p.Y569H	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	569	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCACAGGAATTACAACTATTT	0.458													C	125022838	T	C	125022838	3	2	191	1	0	0	0	0	1	0	0	0	5815	1754	61	3	1755	3	FER1L6	8	125022838	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	651292	125022838	21341184	925	103945											
TMEM65	157378	broad.mit.edu	37	chr8	125332355	125332355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactaagacgtgtttgccacAtgtcaacttgctttggtgtg	10	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:125332355A>G	uc010mdl.2	-	6	1135	c.593T>C	c.(592-594)ATG>ACG	p.M198T		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	transmembrane protein 65	198						integral to membrane					0	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)			TGTTTGCCACATGTCAACTTG	0.418													G	125332355	A	G	125332355	3	3	191	1	0	0	0	0	1	0	0	0	16191	217	8	3	137	3	TMEM65	8	125332355	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	309517	125332355	21031667	926	103946											
ASAP1	50807	broad.mit.edu	37	chr8	131226887	131226887	+	Frame_Shift_Del	DEL	A	A	-													ggtcggggttgtctcgacttAaaaaattactcccaaactta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:131226886_131226886TA>T	uc003yta.2	-	4	549	c.321_321TA>A	c.(319-321)ttafs	p.L107fs	ASAP1_uc011liw.2_Frame_Shift_Del_p.L100fs	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	107					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|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						TGTCTCGACTTAAAAAATTAC	0.358													-	131226887	A	-	131226887	7	5	191	1	0	1	0	1	0	0	0	0	1010	372	13	0	3173	0	ASAP1	8	131226887	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	5894532	131226887	15137135	927	103947											
WISP1	8840	broad.mit.edu	37	chr8	134232963	134232963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccgagtgcgccccccGcgtctctggtgcccccaccc	10	22	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:134232963G>A	uc003yub.2	+	3	565	c.489G>A	c.(487-489)CCG>CCA	p.P163P	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	163	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)|kidney(1)	2	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)			TGCGCCCCCCGCGTCTCTGGT	0.657													A	134232963	G	A	134232963	2	1	191	1	0	0	0	0	0	0	0	1	17369	1074	38	1		1	WISP1	8	134232963	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3006076	134232963	12131059	928	103948											
ZFAT	57623	broad.mit.edu	37	chr8	135614542	135614542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctctttgatgtgggtgcGcagcctgatggagctgacga	14	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:135614542G>A	uc003yup.2	-	6	1595	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	ZFAT_uc003yun.2_Missense_Mutation_p.R462C|ZFAT_uc003yuo.2_Missense_Mutation_p.R462C|ZFAT_uc010meh.2_Missense_Mutation_p.R462C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R462C|ZFAT_uc010mej.2_Missense_Mutation_p.R412C|ZFAT_uc003yur.2_Missense_Mutation_p.R462C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	474	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			ATGTGGGTGCGCAGCCTGATG	0.602													A	135614542	G	A	135614542	3	1	191	1	0	0	0	0	1	0	0	0	17629	1087	38	1	2355	1	ZFAT	8	135614542	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1381579	135614542	10749480	929	103949											
FAM135B	51059	broad.mit.edu	37	chr8	139263228	139263228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagcgttcggctgctgAccatcggtgccccagccaca	12	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:139263228A>C	uc003yuy.2	-	6	569	c.398T>G	c.(397-399)GTC>GGC	p.V133G	FAM135B_uc003yux.2_Missense_Mutation_p.V34G|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	133										ovary(7)|skin(2)	9	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)			TCGGCTGCTGACCATCGGTGC	0.582										HNSCC(54;0.14)			C	139263228	A	C	139263228	3	2	191	1	0	0	0	0	1	0	0	0	5449	275	10	5	3882	5	FAM135B	8	139263228	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3648686	139263228	7100794	930	103950											
SLC45A4	57210	broad.mit.edu	37	chr8	142221700	142221700	+	Frame_Shift_Del	DEL	T	T	-													ccacattgtggaaaagaaaaTtttttttctaaaataatcat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:142221699_142221699AT>A	uc003ywd.1	-	7	2547	c.2239_2239AT>T	c.(2239-2241)tttfs	p.F747fs	SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_Frame_Shift_Del_p.I747fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	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)			GGAAAAGAAAATTTTTTTTCT	0.448													-	142221700	T	-	142221700	7	5	191	1	0	1	0	1	0	0	0	0	14643	1490	52	0	162	0	SLC45A4	8	142221700	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2958472	142221700	4142322	931	103951											
GSDMD	79792	broad.mit.edu	37	chr8	144643943	144643943	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgagcgaaggcgcctgGccacagctgccctctggcct	12	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144643943G>A	uc010mfe.2	+	10	1471	c.768G>A	c.(766-768)TGG>TGA	p.W256*	GSDMD_uc003yyf.2_Nonsense_Mutation_p.W304*|GSDMD_uc003yyg.2_Nonsense_Mutation_p.W256*|GSDMD_uc003yyh.2_Nonsense_Mutation_p.W187*	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	256											0						AAGGCGCCTGGCCACAGCTGC	0.672													A	144643943	G	A	144643943	4	1	191	1	0	0	0	0	0	1	0	0	6819	1212	42	2	790	2	GSDMD	8	144643943	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2422243	144643943	1720079	932	103952											
PYCRL	65263	broad.mit.edu	37	chr8	144688646	144688646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatactcacgaaggccacGccactgccactgaggccagt	10	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144688646G>A	uc003yyy.2	-	4	586	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PYCRL_uc011lkm.1_Silent_p.G172G|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	180					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAAGGCCACGCCACTGCCAC	0.652													A	144688646	G	A	144688646	2	1	191	1	0	0	0	0	0	0	0	1	12857	1074	38	1		1	PYCRL	8	144688646	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	44703	144688646	1675376	933	103953											
ZNF623	9831	broad.mit.edu	37	chr8	144733328	144733328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagatccactctggggacaGgcccttcgaatgtaaagact	11	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144733328G>T	uc003yzd.2	+	1	1375	c.1286G>T	c.(1285-1287)AGG>ATG	p.R429M	ZNF623_uc011lkp.1_Missense_Mutation_p.R389M|ZNF623_uc003yzc.2_Missense_Mutation_p.R389M	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			TCTGGGGACAGGCCCTTCGAA	0.493													T	144733328	G	T	144733328	3	4	191	1	0	0	0	0	1	0	0	0	18044	1000	35	5	1288	5	ZNF623	8	144733328	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	44682	144733328	1630694	934	103954											
PLEC	5339	broad.mit.edu	37	chr8	144990747	144990747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgggcgtccaccgtgccGcgctgcagggcctcgtccag	16	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144990747G>A	uc003zaf.1	-	32	13823	c.13653C>T	c.(13651-13653)CGC>CGT	p.R4551R	PLEC_uc003zab.1_Silent_p.R4414R|PLEC_uc003zac.1_Silent_p.R4418R|PLEC_uc003zad.2_Silent_p.R4414R|PLEC_uc003zae.1_Silent_p.R4382R|PLEC_uc003zag.1_Silent_p.R4392R|PLEC_uc003zah.2_Silent_p.R4400R|PLEC_uc003zaj.2_Silent_p.R4441R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4551	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCACCGTGCCGCGCTGCAGGG	0.677													A	144990747	G	A	144990747	2	1	191	1	0	0	0	0	0	0	0	1	12052	1074	38	1		1	PLEC	8	144990747	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	257419	144990747	1373275	935	103955											
KIFC2	90990	broad.mit.edu	37	chr8	145694141	145694141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccagcctgcgtcaggGctgcggggacctccgaggtt	17	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:145694141G>A	uc003zcz.2	+	10	1102	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D		NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	346	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)			CTGCGTCAGGGCTGCGGGGAC	0.672													A	145694141	G	A	145694141	3	1	191	1	0	0	0	0	1	0	0	0	8313	1203	42	2	1075	2	KIFC2	8	145694141	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	703394	145694141	669881	936	103956											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771001	145771001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctccaggccagcatgTtggcgatggacaccttccgc	12	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:145771001T>C	uc003zdt.1	-	7	2708	c.2153A>G	c.(2152-2154)AAC>AGC	p.N718S	ARHGAP39_uc011llk.1_Missense_Mutation_p.N718S|ARHGAP39_uc003zds.1_Missense_Mutation_p.N718S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	718					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGCCAGCATGTTGGCGATGGA	0.607													C	145771001	T	C	145771001	3	2	191	1	0	0	0	0	1	0	0	0	884	1725	60	3	1219	3	ARHGAP39	8	145771001	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	76860	145771001	593021	937	103957											
ZNF251	90987	broad.mit.edu	37	chr8	145948088	145948088	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcattacacttgtagggTttctctcctgtgtgaatgat	8	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:145948088T>G	uc003zdv.3	-	5	1213	c.957A>C	c.(955-957)AAA>AAC	p.K319N		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACTTGTAGGGTTTCTCTCCTG	0.473													G	145948088	T	G	145948088	3	3	191	1	0	0	0	0	1	0	0	0	17793	1722	60	5	1062	5	ZNF251	8	145948088	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	177087	145948088	415934	938	103958											
RPL8	6132	broad.mit.edu	37	chr8	146015267	146015267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgagacccactttgcgGccagcaggggcatctctgcg	13	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:146015267G>A	uc003zeb.2	-	6	807	c.696C>T	c.(694-696)GGC>GGT	p.G232G	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.G196G|RPL8_uc003zec.2_Silent_p.G232G	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	232					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	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)		CCACTTTGCGGCCAGCAGGGG	0.587													A	146015267	G	A	146015267	2	1	191	1	0	0	0	0	0	0	0	1	13602	1190	42	2		2	RPL8	8	146015267	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	67179	146015267	348755	939	103959											
SMARCA2	6595	broad.mit.edu	37	chr9	2104016	2104016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttcagggctgaactgtatCgggcctcagggaagtttgag	16	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:2104016C>T	uc003zhc.2	+	23	3238	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1047W|SMARCA2_uc010mha.2_Missense_Mutation_p.R980W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1047					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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAACTGTATCGGGCCTCAGG	0.408													T	2104016	C	T	2104016	3	4	191	1	0	0	0	0	1	0	0	0	14769	875	31	1	3225	1	SMARCA2	9	2104016	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08		2104016	139109415	940	103960											
KIAA0020	9933	broad.mit.edu	37	chr9	2820070	2820070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaatacaatcaaatgccGccagtaaaaccaaatgggag	7	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:2820070G>A	uc003zhp.1	-	13	1313	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V	KIAA0020_uc010mhc.1_Missense_Mutation_p.A405V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A405V	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	406	Pumilio 5.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		ATCAAATGCCGCCAGTAAAAC	0.373													A	2820070	G	A	2820070	3	1	191	1	0	0	0	0	1	0	0	0	8152	1087	38	1	753	1	KIAA0020	9	2820070	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	716054	2820070	138393361	941	103961											
KIAA0020	9933	broad.mit.edu	37	chr9	2831004	2831004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatatttctcgaatatttgGctttacttaactcaaccaaa	3	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:2831004G>A	uc003zhp.1	-	7	731	c.635C>T	c.(634-636)GCC>GTC	p.A212V	KIAA0020_uc010mhc.1_Missense_Mutation_p.A211V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A212V	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	212	Pumilio 2.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		CGAATATTTGGCTTTACTTAA	0.303													A	2831004	G	A	2831004	3	1	191	1	0	0	0	0	1	0	0	0	8152	1203	42	2	1359	2	KIAA0020	9	2831004	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	10934	2831004	138382427	942	103962											
JAK2	3717	broad.mit.edu	37	chr9	5089751	5089751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggtcgctgtaaaaaaGcttcagcatagtactgaaga	12	6	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:5089751G>A	uc010mhm.2	+	19	2762	c.2649G>A	c.(2647-2649)AAG>AAA	p.K883K	JAK2_uc003ziw.2_Silent_p.K883K	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	883	Protein 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		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	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)		CTGTAAAAAAGCTTCAGCATA	0.438		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5089751	G	A	5089751	2	1	191	1	0	0	0	0	0	0	0	1	7938	962	34	2		2	JAK2	9	5089751	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2258747	5089751	136123680	943	103963											
KIAA2026	158358	broad.mit.edu	37	chr9	5968162	5968162	+	Frame_Shift_Del	DEL	T	T	-													tcaaaacatctttcaatttcTtttttttctttttcttcttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:5968161_5968161CT>C	uc003zjq.4	-	2	2286	c.2070_2070AG>G	c.(2068-2070)aagfs	p.K690fs		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	690	Lys-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)		CTTTCAATTTCTTTTTTTTCT	0.328													-	5968162	T	-	5968162	7	5	191	1	0	1	0	1	0	0	0	0	8270	1609	56	0	4266	0	KIAA2026	9	5968162	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	878411	5968162	135245269	944	103964											
KDM4C	23081	broad.mit.edu	37	chr9	6805770	6805770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcagctggccaacagtGgcaagtgagtagaatcagtt	13	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:6805770G>A	uc003zkh.2	+	3	896	c.316G>A	c.(316-318)GGC>AGC	p.G106S	KDM4C_uc010mhu.2_Missense_Mutation_p.G128S|KDM4C_uc010mhw.2_Missense_Mutation_p.G106S|KDM4C_uc011lmi.1_Missense_Mutation_p.G106S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.G106S|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.G106S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	106					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			ovary(1)	1						GGCCAACAGTGGCAAGTGAGT	0.403													A	6805770	G	A	6805770	3	1	191	1	0	0	0	0	1	0	0	0	8130	1348	47	4	392	4	KDM4C	9	6805770	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	837608	6805770	134407661	945	103965											
KDM4C	23081	broad.mit.edu	37	chr9	6814672	6814672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattacgaagatttggagcGcaagtactggaagaacttaa	12	5	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:6814672G>A	uc003zkh.2	+	4	942	c.362G>A	c.(361-363)CGC>CAC	p.R121H	KDM4C_uc010mhu.2_Missense_Mutation_p.R143H|KDM4C_uc010mhw.2_Missense_Mutation_p.R121H|KDM4C_uc011lmi.1_Missense_Mutation_p.R121H|KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Missense_Mutation_p.R121H|KDM4C_uc011lmk.1_5'UTR|KDM4C_uc010mhv.2_Missense_Mutation_p.R121H	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	121					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			ovary(1)	1						GATTTGGAGCGCAAGTACTGG	0.363													A	6814672	G	A	6814672	3	1	191	1	0	0	0	0	1	0	0	0	8130	1087	38	1	442	1	KDM4C	9	6814672	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	8902	6814672	134398759	946	103966											
MPDZ	8777	broad.mit.edu	37	chr9	13140138	13140138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctggctctgactctgacTgactgggtgcctgtgggaac	13	11	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:13140138T>C	uc010mia.1	-	27	3908	c.3851A>G	c.(3850-3852)CAG>CGG	p.Q1284R	MPDZ_uc010mib.2_5'Flank|MPDZ_uc010mhx.2_Missense_Mutation_p.Q106R|MPDZ_uc011lmm.1_Missense_Mutation_p.Q143R|MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.Q1284R|MPDZ_uc010mhz.2_Missense_Mutation_p.Q1251R|MPDZ_uc011lmn.1_Missense_Mutation_p.Q1251R|MPDZ_uc003zlb.3_Missense_Mutation_p.Q1284R	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1284					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TGACTCTGACTGACTGGGTGC	0.468													C	13140138	T	C	13140138	3	2	191	1	0	0	0	0	1	0	0	0	9722	1580	55	3	2350	3	MPDZ	9	13140138	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	6325466	13140138	128073293	947	103967											
ZDHHC21	340481	broad.mit.edu	37	chr9	14674299	14674299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaacccatgcagcaccAaccatgtgggtcaacaacaa	6	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:14674299A>G	uc003zli.2	-	4	510	c.40T>C	c.(40-42)TGG>CGG	p.W14R	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	14					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)		ATGCAGCACCAACCATGTGGG	0.408													G	14674299	A	G	14674299	3	3	191	1	0	0	0	0	1	0	0	0	17609	117	5	3	777	3	ZDHHC21	9	14674299	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1534161	14674299	126539132	948	103968											
CNTLN	54875	broad.mit.edu	37	chr9	17484293	17484293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttccaatatgttacagGctttggccaaagagttgcaa	8	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:17484293G>A	uc003zmz.2	+	24	3879	c.3853G>A	c.(3853-3855)GCT>ACT	p.A1285T	CNTLN_uc003zmy.2_Missense_Mutation_p.A1286T|CNTLN_uc010mio.2_Missense_Mutation_p.A965T	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1286	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TATGTTACAGGCTTTGGCCAA	0.318													A	17484293	G	A	17484293	3	1	191	1	0	0	0	0	1	0	0	0	3639	1217	42	2	3980	2	CNTLN	9	17484293	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2809994	17484293	123729138	949	103969											
B4GALT1	2683	broad.mit.edu	37	chr9	33167076	33167076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacgccaaggtgcagaGcgcagacggccacgagcagg	18	11	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:33167076G>A	uc003zsg.2	-	1	281	c.92C>T	c.(91-93)GCT>GTT	p.A31V		NM_001497	NP_001488	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	31	Helical; Signal-anchor for type II membrane protein; (Potential).			AL -> VW (in Ref. 1; AAA35936/AAA35937 and 6; AAA68220).	oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	AAGGTGCAGAGCGCAGACGGC	0.716													A	33167076	G	A	33167076	3	1	191	1	0	0	0	0	1	0	0	0	1270	971	34	2	1128	2	B4GALT1	9	33167076	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	15682783	33167076	108046355	950	103970											
AQP3	360	broad.mit.edu	37	chr9	33442934	33442934	+	Frame_Shift_Del	DEL	A	A	-													gtgccattggggcccgaaacAaaaagctggttgtcggcgaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:33442933_33442933CA>C	uc003zsx.3	-	3	512	c.409_409TG>G	c.(409-411)gttfs	p.V137fs	AQP3_uc010mju.3_Frame_Shift_Del_p.V137fs|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	137				V -> A (in Ref. 4; CAG46822).	excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGCCCGAAACAAAAAGCTGG	0.552													-	33442934	A	-	33442934	7	5	191	1	0	1	0	1	0	0	0	0	827	127	5	0	482	0	AQP3	9	33442934	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	275858	33442934	107770497	951	103971											
NOL6	65083	broad.mit.edu	37	chr9	33462740	33462740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaagtcctccaggatTgcttcaacattgggcaccat	8	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:33462740T>C	uc003zsz.2	-	26	3464	c.3363A>G	c.(3361-3363)GCA>GCG	p.A1121A	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Silent_p.A175A|NOL6_uc003zta.2_Silent_p.A674A|NOL6_uc010mjv.2_Silent_p.A1118A|NOL6_uc011lob.1_Silent_p.A1069A|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	1121					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCTCCAGGATTGCTTCAACAT	0.567													C	33462740	T	C	33462740	2	2	191	1	0	0	0	0	0	0	0	1	10525	1799	63	3		3	NOL6	9	33462740	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	19806	33462740	107750691	952	103972											
KIF24	347240	broad.mit.edu	37	chr9	34311229	34311229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactcctaatttggagtagTccttcattgtaatcttggct	9	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:34311229T>C	uc003zua.3	-	2	236	c.116A>G	c.(115-117)GAC>GGC	p.D39G	KIF24_uc010mkb.2_Missense_Mutation_p.D70G	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	39	SAM.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTGGAGTAGTCCTTCATTGT	0.368													C	34311229	T	C	34311229	3	2	191	1	0	0	0	0	1	0	0	0	8292	1667	58	3	4038	3	KIF24	9	34311229	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	848489	34311229	106902202	953	103973											
VCP	7415	broad.mit.edu	37	chr9	35067913	35067913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacatcccctaggcgtacacGaaggttattccgaacaactc	8	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35067913G>A	uc003zvy.2	-	3	666	c.277C>T	c.(277-279)CGT>TGT	p.R93C	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R48C	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	93					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			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGCGTACACGAAGGTTATTC	0.473													A	35067913	G	A	35067913	3	1	191	1	0	0	0	0	1	0	0	0	17137	1058	37	1	2203	1	VCP	9	35067913	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	756684	35067913	106145518	954	103974											
UNC13B	10497	broad.mit.edu	37	chr9	35403768	35403768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggaaatgaggaggggcCcgagtcctatgagttgcaga	16	8	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35403768C>A	uc003zwq.2	+	39	4806	c.4514C>A	c.(4513-4515)CCC>CAC	p.P1505H	UNC13B_uc003zwr.2_Missense_Mutation_p.P1524H|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1505	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAGGAGGGGCCCGAGTCCTAT	0.562													A	35403768	C	A	35403768	3	1	191	1	0	0	0	0	1	0	0	0	16982	623	22	5	4668	5	UNC13B	9	35403768	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	335855	35403768	105809663	955	103975											
RUSC2	9853	broad.mit.edu	37	chr9	35555607	35555607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaacaggaagcttgccGcctctgggctcctggcgatc	13	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35555607G>A	uc003zww.2	+	3	2820	c.2565G>A	c.(2563-2565)CCG>CCA	p.P855P	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.P855P	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	855						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCTTGCCGCCTCTGGGCT	0.637													A	35555607	G	A	35555607	2	1	191	1	0	0	0	0	0	0	0	1	13751	1074	38	1		1	RUSC2	9	35555607	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	151839	35555607	105657824	956	103976											
FAM166B	730112	broad.mit.edu	37	chr9	35563290	35563290	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgcggtggacagggggCcaggctaggccaggagggcc	21	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35563290C>T	uc010mkr.2	-	2	230	c.159G>A	c.(157-159)TGG>TGA	p.W53*	FAM166B_uc011lov.1_Nonsense_Mutation_p.W53*|FAM166B_uc011low.1_Nonsense_Mutation_p.W53*|FAM166B_uc003zwy.2_Nonsense_Mutation_p.W53*	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	53											0						GGACAGGGGGCCAGGCTAGGC	0.617													T	35563290	C	T	35563290	4	4	191	1	0	0	0	0	0	1	0	0	5482	740	26	2	507	2	FAM166B	9	35563290	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7683	35563290	105650141	957	103977											
TESK1	7016	broad.mit.edu	37	chr9	35609368	35609368	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctgttcctcggcctccCaaccctggtcccctagatca	7	19	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35609368C>T	uc003zxa.2	+	10	1846	c.1510C>T	c.(1510-1512)CAA>TAA	p.Q504*	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.Q344*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	504					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGGCCTCCCAACCCTGGTC	0.657													T	35609368	C	T	35609368	4	4	191	1	0	0	0	0	0	1	0	0	15764	595	21	4	1548	4	TESK1	9	35609368	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	46078	35609368	105604063	958	103978											
RNF38	152006	broad.mit.edu	37	chr9	36342424	36342424	+	Splice_Site	DEL	A	A	-													cacatgcatactacacacctAaaaaaagcaaaaagatcatt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:36342423_36342423TA>T	uc003zzh.3	-	11	1577	c.1386_splice	c.e11-1	p.L462_splice	RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	462							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)			ACTACACACCTAAAAAAAGCA	0.358													-	36342424	A	-	36342424	8	5	191	1	0	1	0	1	0	0	1	0	13490	377	13	0		0	RNF38	9	36342424	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	733056	36342424	104871007	959	103979											
GRHPR	9380	broad.mit.edu	37	chr9	37428512	37428512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtggaagcccctctggCtgtgtggctatggactcacg	13	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:37428512C>T	uc003zzu.1	+	5	477	c.436C>T	c.(436-438)CTG>TTG	p.L146L	GRHPR_uc010mlu.2_Silent_p.L66L|GRHPR_uc010mlv.1_Silent_p.L66L|GRHPR_uc003zzt.1_Silent_p.L66L|GRHPR_uc003zzv.1_5'Flank|GRHPR_uc003zzw.1_5'Flank	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	146					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				0				GBM - Glioblastoma multiforme(29;0.00687)		GCCCCTCTGGCTGTGTGGCTA	0.682													T	37428512	C	T	37428512	2	4	191	1	0	0	0	0	0	0	0	1	6766	796	28	2		2	GRHPR	9	37428512	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1086088	37428512	103784919	960	103980											
FRMPD1	22844	broad.mit.edu	37	chr9	37746591	37746591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccggcacagggaggcagCggggaacctgagggatgtgg	20	10	0	1	rs150133117		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:37746591C>T	uc004aag.1	+	16	4606	c.4562C>T	c.(4561-4563)GCG>GTG	p.A1521V	FRMPD1_uc004aah.1_Missense_Mutation_p.A1521V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1521						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		AGGGAGGCAGCGGGGAACCTG	0.607													T	37746591	C	T	37746591	3	4	191	1	0	0	0	0	1	0	0	0	6057	768	27	1	4620	1	FRMPD1	9	37746591	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	318079	37746591	103466840	961	103981											
PRKACG	5568	broad.mit.edu	37	chr9	71628327	71628327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccatctcatagatgaGcacccctagggcccaccagt	9	16	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:71628327G>A	uc004agy.2	-	1	713	c.682C>T	c.(682-684)CTC>TTC	p.L228F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	228	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			ovary(1)|pancreas(1)|skin(1)	3						TCATAGATGAGCACCCCTAGG	0.612													A	71628327	G	A	71628327	3	1	191	1	0	0	0	0	1	0	0	0	12499	971	34	2	377	2	PRKACG	9	71628327	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	33881736	71628327	69585104	962	103982											
TMEM2	23670	broad.mit.edu	37	chr9	74329881	74329881	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatgttcgaggcttctggtCtattcctccagtgcctacat	8	11	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:74329881C>A	uc011lsa.1	-	15	3100	c.2560G>T	c.(2560-2562)GAC>TAC	p.D854Y	TMEM2_uc010mos.2_Missense_Mutation_p.D791Y|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	854						integral to membrane				ovary(2)	2		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)		GGCTTCTGGTCTATTCCTCCA	0.453													A	74329881	C	A	74329881	3	1	191	1	0	0	0	0	1	0	0	0	16118	913	32	5	1631	5	TMEM2	9	74329881	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2701554	74329881	66883550	963	103983											
ALDH1A1	216	broad.mit.edu	37	chr9	75539031	75539031	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaacaatattcactacTccaggaggaaaccctgccta	7	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:75539031T>G	uc004ajd.2	-	7	704	c.651A>C	c.(649-651)GGA>GGC	p.G217G	ALDH1A1_uc011lsh.1_Silent_p.G138G|ALDH1A1_uc011lsg.1_Silent_p.G43G	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	217					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TATTCACTACTCCAGGAGGAA	0.393													G	75539031	T	G	75539031	2	3	191	1	0	0	0	0	0	0	0	1	490	1538	54	5		5	ALDH1A1	9	75539031	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1209150	75539031	65674400	964	103984											
VPS13A	23230	broad.mit.edu	37	chr9	79952237	79952237	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaggaattgactttgaagaGattataaaaaatgatggtgc	11	2	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:79952237G>C	uc004akr.2	+	47	6422	c.6162G>C	c.(6160-6162)GAG>GAC	p.E2054D	VPS13A_uc004akp.3_Missense_Mutation_p.E2054D|VPS13A_uc004akq.3_Missense_Mutation_p.E2054D|VPS13A_uc004aks.2_Missense_Mutation_p.E2015D|VPS13A_uc004akt.2_Missense_Mutation_p.E394D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2054					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ACTTTGAAGAGATTATAAAAA	0.289													C	79952237	G	C	79952237	3	2	191	1	0	0	0	0	1	0	0	0	17186	933	33	5	6348	5	VPS13A	9	79952237	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4413206	79952237	61261194	965	103985											
DAPK1	1612	broad.mit.edu	37	chr9	90252903	90252904	+	Frame_Shift_Del	DEL	TT	TT	-													ttcttagctgaaaaggaatcTttaactgaagaggaagcaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:90252902_90252903CTT>C	uc004apc.3	+	3	467_468	c.329_330CTT>C	c.(328-330)tctfs	p.S110fs	DAPK1_uc004ape.3_Frame_Shift_Del_p.S110fs|DAPK1_uc004apd.3_Frame_Shift_Del_p.S110fs|DAPK1_uc011ltg.2_Frame_Shift_Del_p.S110fs|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	110	Protein kinase.				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						GAAAAGGAATCTTTAACTGAAG	0.411									Chronic Lymphocytic Leukemia, Familial Clustering of				-	90252904	TT	-	90252903	7	5	191	1	0	1	0	1	0	0	0	0	4235	1596	56	0	340	0	DAPK1	9	90252903	Frame_Shift_Del	DEL	TT	TCGA-CG-5723-01A-11D-1600-08	10300666	90252903	50960528	966	103986											
SHC3	53358	broad.mit.edu	37	chr9	91657048	91657048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaggtgggtgcttctcccGtgggggccacgtgcagtttc	16	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:91657048G>A	uc004aqg.2	-	10	1560	c.1253C>T	c.(1252-1254)ACG>ATG	p.T418M		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	418	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			lung(3)|skin(1)	4						TGCTTCTCCCGTGGGGGCCAC	0.572													A	91657048	G	A	91657048	3	1	191	1	0	0	0	0	1	0	0	0	14272	1145	40	1	543	1	SHC3	9	91657048	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1404145	91657048	49556383	967	103987											
SEMA4D	10507	broad.mit.edu	37	chr9	91978832	91978834	+	In_Frame_Del	DEL	TTC	TTC	-													aggtctccagagctcgcccaTtcttctcccagacaaagcga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:91978831_91978833ATTC>A	uc011ltm.1	-	18	2487_2489	c.1915_1917GAAT>T	c.(1915-1917)aat>T	p.N639del	SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aql.2_Non-coding_Transcript|SEMA4D_uc004aqm.2_Non-coding_Transcript	NM_001142287	NP_001135759	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 2, mRNA.	0					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						GAGCTCGCCCATTCTTCTCCCAG	0.596													-	91978834	TTC	-	91978832	7	5	191	1	0	1	0	1	0	0	0	0	14034	1493	52	0	312	0	SEMA4D	9	91978832	In_Frame_Del	DEL	TTC	TCGA-CG-5723-01A-11D-1600-08	321784	91978832	49234599	968	103988											
SEMA4D	10507	broad.mit.edu	37	chr9	91994251	91994251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaggtgggggccactaCgggctttggaaccaccttca	13	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:91994251C>T	uc004aqo.1	-	18	2529	c.1957G>A	c.(1957-1959)GTA>ATA	p.V653I	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.V651I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	653	Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GGGGCCACTACGGGCTTTGGA	0.557													T	91994251	C	T	91994251	3	4	191	1	0	0	0	0	1	0	0	0	14034	536	19	1	1205	1	SEMA4D	9	91994251	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	15419	91994251	49219180	969	103989											
ROR2	4920	broad.mit.edu	37	chr9	94495680	94495680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcgaactgtgagcactggtCcgacaggtgcgtagacgtgc	16	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:94495680C>A	uc004arj.1	-	6	860	c.661G>T	c.(661-663)GAC>TAC	p.D221Y	ROR2_uc004ari.1_Missense_Mutation_p.D81Y|ROR2_uc004ark.2_Missense_Mutation_p.D221Y	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	221	FZ.|Extracellular (Potential).				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GAGCACTGGTCCGACAGGTGC	0.642													A	94495680	C	A	94495680	3	1	191	1	0	0	0	0	1	0	0	0	13527	855	30	5	2186	5	ROR2	9	94495680	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2501429	94495680	46717751	970	103990											
BICD2	23299	broad.mit.edu	37	chr9	95481241	95481241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggtgcggccggccccGccctggccctcgcggtagta	16	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95481241G>A	uc004aso.1	-	5	1743	c.1686C>T	c.(1684-1686)GGC>GGT	p.G562G	BICD2_uc004asp.1_Silent_p.G562G	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	562					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GGCCGGCCCCGCCCTGGCCCT	0.687													A	95481241	G	A	95481241	2	1	191	1	0	0	0	0	0	0	0	1	1429	1074	38	1		1	BICD2	9	95481241	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	985561	95481241	45732190	971	103991											
BICD2	23299	broad.mit.edu	37	chr9	95481833	95481833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctgtgtgtcctgcagcGttgccagcaggcccgccttt	12	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95481833G>A	uc004aso.1	-	5	1151	c.1094C>T	c.(1093-1095)ACG>ATG	p.T365M	BICD2_uc004asp.1_Missense_Mutation_p.T365M	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	365	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GTCCTGCAGCGTTGCCAGCAG	0.622													A	95481833	G	A	95481833	3	1	191	1	0	0	0	0	1	0	0	0	1429	1145	40	1	1495	1	BICD2	9	95481833	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	592	95481833	45731598	972	103992											
WNK2	65268	broad.mit.edu	37	chr9	95993293	95993293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaccgagacctgaaatgTgacaatattttcatcaccgg	7	11	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95993293T>C	uc004ati.1	+	3	978	c.978T>C	c.(976-978)TGT>TGC	p.C326C	WNK2_uc011lud.1_Silent_p.C326C|WNK2_uc004atj.2_Silent_p.C326C|WNK2_uc010mrc.1_Silent_p.C326C|WNK2_uc010mrd.1_5'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	326	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						ACCTGAAATGTGACAATATTT	0.537													C	95993293	T	C	95993293	2	2	191	1	0	0	0	0	0	0	0	1	17375	1702	59	3		3	WNK2	9	95993293	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	511460	95993293	45220138	973	103993											
WNK2	65268	broad.mit.edu	37	chr9	95997109	95997109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcccgagttcatggcGcccgagatgtacgaggagca	14	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95997109G>A	uc004ati.1	+	4	1095	c.1095G>A	c.(1093-1095)GCG>GCA	p.A365A	WNK2_uc011lud.1_Silent_p.A365A|WNK2_uc004atj.2_Silent_p.A365A|WNK2_uc004atk.2_Silent_p.A2A|WNK2_uc010mrc.1_Silent_p.A365A|WNK2_uc010mrd.1_Silent_p.A2A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	365	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						AGTTCATGGCGCCCGAGATGT	0.617													A	95997109	G	A	95997109	2	1	191	1	0	0	0	0	0	0	0	1	17375	1074	38	1		1	WNK2	9	95997109	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3816	95997109	45216322	974	103994											
FAM120A	23196	broad.mit.edu	37	chr9	96261170	96261170	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccaccacattacttaggTaagtaaataaaagcctgtga	6	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:96261170T>C	uc004atw.2	+	5	1055	c.1030_splice	c.e5+2	p.A344_splice	FAM120A_uc004atv.2_Splice_Site_p.A344_splice|FAM120A_uc004atx.2_Splice_Site_p.A126_splice|FAM120A_uc004aty.2_Splice_Site_p.A126_splice	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator							cytoplasm|plasma membrane	RNA binding				0						ATTACTTAGGTAAGTAAATAA	0.313													C	96261170	T	C	96261170	5	2	191	1	0	0	0	0	0	0	1	0	5415	1652	57	3	1050	3	FAM120A	9	96261170	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	264061	96261170	44952261	975	103995											
PHF2	5253	broad.mit.edu	37	chr9	96438043	96438043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatcgagaccgggctggCggctgctgcagctaagttgt	14	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:96438043C>T	uc004aub.2	+	20	2951	c.2804C>T	c.(2803-2805)GCG>GTG	p.A935V	PHF2_uc011lug.1_Missense_Mutation_p.A818V|PHF2_uc004auc.2_Missense_Mutation_p.A355V	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	935					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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ACCGGGCTGGCGGCTGCTGCA	0.652													T	96438043	C	T	96438043	3	4	191	1	0	0	0	0	1	0	0	0	11830	768	27	1	2882	1	PHF2	9	96438043	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	176873	96438043	44775388	976	103996											
PTCH1	5727	broad.mit.edu	37	chr9	98268780	98268780	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaggaggcccacaaccaaGaacttgccgcagtttttttg	10	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:98268780G>A	uc004avk.3	-	2	491	c.303C>T	c.(301-303)TTC>TTT	p.F101F	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Silent_p.F35F|PTCH1_uc004avm.3_Silent_p.F100F|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Silent_p.F35F|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	101	Helical; (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCACAACCAAGAACTTGCCGC	0.512									Basal_Cell_Nevus_syndrome				A	98268780	G	A	98268780	2	1	191	1	0	0	0	0	0	0	0	1	12730	933	33	4		4	PTCH1	9	98268780	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1830737	98268780	42944651	977	103997											
CDC14B	8555	broad.mit.edu	37	chr9	99285991	99285991	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcaggctatcagagtgccCgtgcgaccaaggccagctag	13	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:99285991C>A	uc004awj.2	-	10	1415	c.963G>T	c.(961-963)ACG>ACT	p.T321T	CDC14B_uc004awk.2_Silent_p.T321T|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.T284T	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	321	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGTGCCCGTGCGACCAA	0.498													A	99285991	C	A	99285991	2	1	191	1	0	0	0	0	0	0	0	1	3057	639	23	5		5	CDC14B	9	99285991	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1017211	99285991	41927440	978	103998											
TDRD7	23424	broad.mit.edu	37	chr9	100245400	100245400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatggtggaccatacgagCgctttctccacagaggaact	10	12	1	1	rs138199272		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:100245400C>T	uc004axj.2	+	15	2907	c.2682C>T	c.(2680-2682)AGC>AGT	p.S894S	TDRD7_uc011lux.1_Silent_p.S820S|TDRD7_uc010msp.1_Silent_p.S146S|TDRD7_uc011luy.1_Silent_p.S214S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	894	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				ACCATACGAGCGCTTTCTCCA	0.507													T	100245400	C	T	100245400	2	4	191	1	0	0	0	0	0	0	0	1	15732	767	27	1		1	TDRD7	9	100245400	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	959409	100245400	40968031	979	103999											
TMOD1	7111	broad.mit.edu	37	chr9	100353681	100353681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagcaaggaccccggcttCgggcatccaacgcaatgatg	11	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:100353681C>T	uc004axk.1	+	9	1192	c.979C>T	c.(979-981)CGG>TGG	p.R327W	TMOD1_uc004axl.1_Missense_Mutation_p.R327W	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	327					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCCGGCTTCGGGCATCCAA	0.507													T	100353681	C	T	100353681	3	4	191	1	0	0	0	0	1	0	0	0	16230	875	31	1	1009	1	TMOD1	9	100353681	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	108281	100353681	40859750	980	104000											
GABBR2	9568	broad.mit.edu	37	chr9	101258740	101258740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcgttggagaagctctcGgtgtctgaaatctcaatgtc	12	8	3	2	rs149573430	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:101258740G>A	uc004ays.2	-	4	843	c.687C>T	c.(685-687)ACC>ACT	p.T229T		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	229	Extracellular (Potential).				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			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGAAGCTCTCGGTGTCTGAAA	0.542													A	101258740	G	A	101258740	2	1	191	1	0	0	0	0	0	0	0	1	6156	1103	39	1		1	GABBR2	9	101258740	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	905059	101258740	39954691	981	104001											
NR4A3	8013	broad.mit.edu	37	chr9	102590423	102590423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacggagatcatgaacccCgactacaccaagctgaccat	7	15	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:102590423C>T	uc004baf.1	+	3	828	c.99C>T	c.(97-99)CCC>CCT	p.P33P	NR4A3_uc004bae.2_Silent_p.P33P|NR4A3_uc004bag.1_Silent_p.P33P|NR4A3_uc004bai.2_Silent_p.P44P	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	33					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCATGAACCCCGACTACACCA	0.572			T	EWSR1	extraskeletal myxoid chondrosarcoma								T	102590423	C	T	102590423	2	4	191	1	0	0	0	0	0	0	0	1	10634	639	23	1		1	NR4A3	9	102590423	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1331683	102590423	38623008	982	104002											
TMEFF1	8577	broad.mit.edu	37	chr9	103204533	103204533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctctcctgagtacccacGtcctagggaaggagaagatc	11	13	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:103204533G>A	uc004bay.1	+	1	346	c.313G>A	c.(313-315)GTC>ATC	p.V105I	C9orf30_uc004baw.2_Missense_Mutation_p.V105I|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				GAGTACCCACGTCCTAGGGAA	0.582													A	103204533	G	A	103204533	3	1	191	1	0	0	0	0	1	0	0	0	16010	1145	40	1		1	TMEFF1	9	103204533	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	614110	103204533	38008898	983	104003											
RAD23B	5887	broad.mit.edu	37	chr9	110062486	110062486	+	Frame_Shift_Del	DEL	A	A	-													tgcctttccagtagcaggtcAaaaattaatttatgcaggta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:110062485_110062485CA>C	uc004bde.3	+	1	524	c.130_130CA>C	c.(130-132)caafs	p.Q44fs	RAD23B_uc011lwa.2_Frame_Shift_Del_p.Q44fs|RAD23B_uc022blj.1_5'UTR|RAD23B_uc011lwb.2_Frame_Shift_Del_p.Q23fs	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	44	Ubiquitin-like.				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	XPC complex|cytoplasm|nucleoplasm|proteasome 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						AGTAGCAGGTCAAAAATTAAT	0.279								Direct reversal of damage;Nucleotide excision repair (NER)					-	110062486	A	-	110062486	7	5	191	1	0	1	0	1	0	0	0	0	12983	130	5	0	137	0	RAD23B	9	110062486	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	6857953	110062486	31150945	984	104004											
ACTL7B	10880	broad.mit.edu	37	chr9	111617246	111617246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctggcagcggcccaggCaggcagctgtgagctccggg	17	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:111617246C>T	uc004bdi.2	-	1	1030	c.965G>A	c.(964-966)TGC>TAC	p.C322Y		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	322						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCGGCCCAGGCAGGCAGCTGT	0.657													T	111617246	C	T	111617246	3	4	191	1	0	0	0	0	1	0	0	0	201	710	25	2	286	2	ACTL7B	9	111617246	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1554760	111617246	29596185	985	104005											
ACTL7B	10880	broad.mit.edu	37	chr9	111617489	111617489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgtccgtgaatgcgtggCccgcctcattgagcagctgc	14	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:111617489C>T	uc004bdi.2	-	1	787	c.722G>A	c.(721-723)GGC>GAC	p.G241D		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	241						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GAATGCGTGGCCCGCCTCATT	0.642													T	111617489	C	T	111617489	3	4	191	1	0	0	0	0	1	0	0	0	201	739	26	2	529	2	ACTL7B	9	111617489	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	243	111617489	29595942	986	104006											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900030	112900030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacatcagtgacagcgggGcatccaatgagacaaccaat	9	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:112900030G>A	uc004bei.2	+	9	3094	c.2902G>A	c.(2902-2904)GCA>ACA	p.A968T	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A546T|AKAP2_uc011lwi.1_Missense_Mutation_p.A594T|AKAP2_uc004bem.2_Missense_Mutation_p.A594T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A554T|AKAP2_uc011lwj.1_Missense_Mutation_p.A505T|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.A505T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	505							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TGACAGCGGGGCATCCAATGA	0.522													A	112900030	G	A	112900030	3	1	191	1	0	0	0	0	1	0	0	0	11410	1203	42	2	2236	2	PALM2-AKAP2	9	112900030	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1282541	112900030	28313401	987	104007											
SVEP1	79987	broad.mit.edu	37	chr9	113197545	113197545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaaatatgctcttagaatCgatcttcactttccccacaa	3	12	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:113197545C>T	uc010mtz.2	-	29	5201	c.4864G>A	c.(4864-4866)GAT>AAT	p.D1622N		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1622	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CTCTTAGAATCGATCTTCACT	0.448													T	113197545	C	T	113197545	3	4	191	1	0	0	0	0	1	0	0	0	15417	884	31	1	5931	1	SVEP1	9	113197545	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	297515	113197545	28015886	988	104008											
SVEP1	79987	broad.mit.edu	37	chr9	113228188	113228188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcttttcacagttgaGgtgttttctggacacgagag	11	9	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:113228188G>A	uc010mtz.2	-	18	3616	c.3279C>T	c.(3277-3279)ACC>ACT	p.T1093T	SVEP1_uc010mua.1_Silent_p.T1093T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1093					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TCACAGTTGAGGTGTTTTCTG	0.443													A	113228188	G	A	113228188	2	1	191	1	0	0	0	0	0	0	0	1	15417	987	35	4		4	SVEP1	9	113228188	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	30643	113228188	27985243	989	104009											
WDR31	114987	broad.mit.edu	37	chr9	116079151	116079151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaacagccagagaagtcaAgggtcctgatccatccagag	10	12	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116079151A>G	uc004bhe.2	-	11	1234	c.982T>C	c.(982-984)TTG>CTG	p.L328L	uc004bhb.2_5'Flank|WDR31_uc004bhc.2_Silent_p.L327L|WDR31_uc004bhd.2_Silent_p.L203L|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	328											0						AGAGAAGTCAAGGGTCCTGAT	0.502													G	116079151	A	G	116079151	2	3	191	1	0	0	0	0	0	0	0	1	17283	69	3	3		3	WDR31	9	116079151	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2850963	116079151	25134280	990	104010											
C9orf43	257169	broad.mit.edu	37	chr9	116187629	116187629	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctggtcaccaggttacAggaaacagcagcagcggcag	12	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116187629A>C	uc004bho.3	+	10	1267	c.871A>C	c.(871-873)AGG>CGG	p.R291R	C9orf43_uc004bhp.2_Silent_p.R291R	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	291											0						ACCAGGTTACAGGAAAcagca	0.428													C	116187629	A	C	116187629	2	2	191	1	0	0	0	0	0	0	0	1	2483	179	7	5		5	C9orf43	9	116187629	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	108478	116187629	25025802	991	104011											
RGS3	5998	broad.mit.edu	37	chr9	116269753	116269753	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcagcgccacagctgCcacctggtatgtgacagctc	11	15	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116269753C>A	uc004bhq.2	+	14	1481	c.1272C>A	c.(1270-1272)TGC>TGA	p.C424*	RGS3_uc004bhr.2_Nonsense_Mutation_p.C312*|RGS3_uc004bhs.2_Nonsense_Mutation_p.C314*|RGS3_uc004bht.2_Nonsense_Mutation_p.C143*|RGS3_uc010muy.2_Nonsense_Mutation_p.C143*|RGS3_uc004bhu.2_Nonsense_Mutation_p.C50*	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	424					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GCCACAGCTGCCACCTGGTAT	0.657													A	116269753	C	A	116269753	4	1	191	1	0	0	0	0	0	1	0	0	13306	747	26	5	1463	5	RGS3	9	116269753	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	82124	116269753	24943678	992	104012											
RGS3	5998	broad.mit.edu	37	chr9	116276899	116276899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcacctacgtcaccctgGcccccaaagtcctggtgttc	9	16	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116276899G>A	uc004bhq.2	+	16	1848	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	RGS3_uc004bhr.2_Missense_Mutation_p.A435T|RGS3_uc004bhs.2_Missense_Mutation_p.A437T|RGS3_uc004bht.2_Missense_Mutation_p.A266T|RGS3_uc010muy.2_Missense_Mutation_p.A266T|RGS3_uc004bhu.2_Missense_Mutation_p.A173T	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	547					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						CGTCACCCTGGCCCCCAAAGT	0.592													A	116276899	G	A	116276899	3	1	191	1	0	0	0	0	1	0	0	0	13306	1203	42	2	1838	2	RGS3	9	116276899	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7146	116276899	24936532	993	104013											
ZNF618	114991	broad.mit.edu	37	chr9	116811442	116811442	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtacgtgacggattgccgGgtgagcacgtccgccttctc	14	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116811442G>T	uc004bid.2	+	15	1959	c.1860G>T	c.(1858-1860)CGG>CGT	p.R620R	ZNF618_uc004bic.2_Silent_p.R527R|ZNF618_uc011lxi.1_Silent_p.R587R|ZNF618_uc011lxj.1_Silent_p.R588R|ZNF618_uc010mvb.2_Silent_p.R210R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGATTGCCGGGTGAGCACGT	0.612													T	116811442	G	T	116811442	2	4	191	1	0	0	0	0	0	0	0	1	18039	1219	43	5		5	ZNF618	9	116811442	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	534543	116811442	24401989	994	104014											
COL27A1	85301	broad.mit.edu	37	chr9	116930239	116930239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttcctccccggcaagaCggtcgtccacctcgggtccc	11	18	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116930239C>T	uc011lxl.1	+	3	404	c.404C>T	c.(403-405)ACG>ATG	p.T135M	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Translation_Start_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	135	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCCGGCAAGACGGTCGTCCAC	0.682													T	116930239	C	T	116930239	3	4	191	1	0	0	0	0	1	0	0	0	3685	536	19	1	414	1	COL27A1	9	116930239	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	118797	116930239	24283192	995	104015											
ORM1	5004	broad.mit.edu	37	chr9	117085980	117085980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatatcgcatcggcctttcGaaacgaggagtacaataagt	9	8	0	0	rs146832261		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:117085980G>A	uc004bik.3	+	2	263	c.152G>A	c.(151-153)CGA>CAA	p.R51Q	ORM1_uc011lxo.1_Missense_Mutation_p.R51Q	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	51					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TCGGCCTTTCGAAACGAGGAG	0.443													A	117085980	G	A	117085980	3	1	191	1	0	0	0	0	1	0	0	0	11267	1058	37	1	158	1	ORM1	9	117085980	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	155741	117085980	24127451	996	104016											
AKNA	80709	broad.mit.edu	37	chr9	117139520	117139520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgagttcaacggatgggttGacctcggaatgttcagaaag	13	7	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:117139520G>A	uc004biq.3	-	2	702	c.567C>T	c.(565-567)GTC>GTT	p.V189V	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Silent_p.V108V|AKNA_uc004bir.3_Silent_p.V189V|AKNA_uc004bis.3_Silent_p.V189V|AKNA_uc010mve.2_Silent_p.V70V|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Silent_p.V189V|AKNA_uc004biw.1_Silent_p.V189V	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CGGATGGGTTGACCTCGGAAT	0.587													A	117139520	G	A	117139520	2	1	191	1	0	0	0	0	0	0	0	1	463	1277	45	4		4	AKNA	9	117139520	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	53540	117139520	24073911	997	104017											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123165217	123165217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcaggcccaggacatggCggccattcttgctggcccac	11	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:123165217C>T	uc004bkf.2	-	34	5355	c.5174G>A	c.(5173-5175)CGC>CAC	p.R1725H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R734H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R1010H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1646H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R990H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R990H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R990H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1495H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1725					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGGACATGGCGGCCATTCTT	0.592													T	123165217	C	T	123165217	3	4	191	1	0	0	0	0	1	0	0	0	3146	768	27	1	527	1	CDK5RAP2	9	123165217	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6025697	123165217	18048214	998	104018											
C5	727	broad.mit.edu	37	chr9	123742388	123742388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcttctctcttcaaagCtgaaacaattgaacgaaact	5	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:123742388C>T	uc004bkv.2	-	28	3661	c.3631G>A	c.(3631-3633)GCT>ACT	p.A1211T		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1211					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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTCTTCAAAGCTGAAACAATT	0.303													T	123742388	C	T	123742388	3	4	191	1	0	0	0	0	1	0	0	0	2280	797	28	2	1455	2	C5	9	123742388	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	577171	123742388	17471043	999	104019											
PTGS1	5742	broad.mit.edu	37	chr9	125143952	125143952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccacaggtagacctcGgccacatttatggagacaat	9	11	1	2	rs3842795	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:125143952G>A	uc004bmg.1	+	7	823	c.688G>A	c.(688-690)GGC>AGC	p.G230S	PTGS1_uc011lys.1_Missense_Mutation_p.G205S|PTGS1_uc010mwb.1_Missense_Mutation_p.G121S|PTGS1_uc004bmf.1_Missense_Mutation_p.G230S|PTGS1_uc004bmh.1_Missense_Mutation_p.G121S|PTGS1_uc011lyt.1_Missense_Mutation_p.G121S	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	230					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			ovary(1)|skin(1)	2					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)	GGTAGACCTCGGCCACATTTA	0.567													A	125143952	G	A	125143952	3	1	191	1	0	0	0	0	1	0	0	0	12755	1116	39	1	714	1	PTGS1	9	125143952	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1401564	125143952	16069479	1000	104020											
OR1N1	138883	broad.mit.edu	37	chr9	125289221	125289221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggccacatagcggtcatAcgccatggcagccaggaaga	12	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:125289221A>C	uc004bmn.1	-	1	352	c.352T>G	c.(352-354)TAT>GAT	p.Y118D		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						TAGCGGTCATACGCCATGGCA	0.527													C	125289221	A	C	125289221	3	2	191	1	0	0	0	0	1	0	0	0	10969	391	14	5	587	5	OR1N1	9	125289221	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	145269	125289221	15924210	1001	104021											
OR1L1	26737	broad.mit.edu	37	chr9	125424142	125424142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttatcatcctggccatcCgctcagacactcgtctccag	7	16	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:125424142C>T	uc011lza.1	+	1	298	c.298C>T	c.(298-300)CGC>TGC	p.R100C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	100	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CCTGGCCATCCGCTCAGACAC	0.483													T	125424142	C	T	125424142	3	4	191	1	0	0	0	0	1	0	0	0	10963	652	23	1	150	1	OR1L1	9	125424142	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	134921	125424142	15789289	1002	104022											
LHX2	9355	broad.mit.edu	37	chr9	126776328	126776328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactacctgctggcggtggAcaagcagtggcacatgcgct	13	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:126776328A>G	uc004boe.1	+	2	948	c.209A>G	c.(208-210)GAC>GGC	p.D70G	LHX2_uc010mwi.1_Missense_Mutation_p.D70G	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	70	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGGCGGTGGACAAGCAGTGG	0.632													G	126776328	A	G	126776328	3	3	191	1	0	0	0	0	1	0	0	0	8771	275	10	3	215	3	LHX2	9	126776328	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1352186	126776328	14437103	1003	104023											
WDR38	401551	broad.mit.edu	37	chr9	127616498	127616498	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctaggtcaactcttctgcCttctcccctgatggccagat	7	14	5	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:127616498C>A	uc004box.2	+	2	140	c.84C>A	c.(82-84)GCC>GCA	p.A28A	WDR38_uc011lzn.1_Intron|WDR38_uc011lzo.1_Silent_p.A28A|WDR38_uc011lzp.1_5'UTR	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	28	WD 1.										0						ACTCTTCTGCCTTCTCCCCTG	0.597													A	127616498	C	A	127616498	2	1	191	1	0	0	0	0	0	0	0	1	17289	668	24	5		5	WDR38	9	127616498	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	840170	127616498	13596933	1004	104024											
PBX3	5090	broad.mit.edu	37	chr9	128725361	128725361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggaggaaattcactgtAcagtccacataatttaaatg	7	8	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:128725361A>G	uc004bqb.2	+	8	1309	c.1193A>G	c.(1192-1194)TAC>TGC	p.Y398C	PBX3_uc004bqc.2_Missense_Mutation_p.Y217C|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_Missense_Mutation_p.Y323C|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_Missense_Mutation_p.Y306C	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	398				Y -> C (in Ref. 2; AAL09477).	anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						AATTCACTGTACAGTCCACAT	0.413													G	128725361	A	G	128725361	3	3	191	1	0	0	0	0	1	0	0	0	11494	391	14	3	1223	3	PBX3	9	128725361	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1108863	128725361	12488070	1005	104025											
TTC16	158248	broad.mit.edu	37	chr9	130486431	130486431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgacggctccaggagttcgAtggggcagtggaggacttcc	16	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:130486431A>G	uc004brq.1	+	8	972	c.905A>G	c.(904-906)GAT>GGT	p.D302G	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.D289G|TTC16_uc004brr.1_Missense_Mutation_p.D247G|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	302	TPR 5.						binding				0						CAGGAGTTCGATGGGGCAGTG	0.657													G	130486431	A	G	130486431	3	3	191	1	0	0	0	0	1	0	0	0	16680	333	12	3	935	3	TTC16	9	130486431	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1761070	130486431	10727000	1006	104026											
C9orf114	51490	broad.mit.edu	37	chr9	131589411	131589411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtaggtgcgaagctccgGcgactgagcattgtccagga	14	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:131589411G>A	uc004bwd.2	-	4	294	c.268C>T	c.(268-270)CCG>TCG	p.P90S	C9orf114_uc004bwe.2_Missense_Mutation_p.P90S|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	90											0						CGAAGCTCCGGCGACTGAGCA	0.607													A	131589411	G	A	131589411	3	1	191	1	0	0	0	0	1	0	0	0	2449	1203	42	2	898	2	C9orf114	9	131589411	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1102980	131589411	9624020	1007	104027											
DOLPP1	57171	broad.mit.edu	37	chr9	131847515	131847515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgggcaccaagtacGggatgccctccagccattcc	11	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:131847515G>A	uc004bxc.2	+	4	320	c.292G>A	c.(292-294)GGG>AGG	p.G98R	DOLPP1_uc004bxd.2_Missense_Mutation_p.G98R|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	98					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						CACCAAGTACGGGATGCCCTC	0.582													A	131847515	G	A	131847515	3	1	191	1	0	0	0	0	1	0	0	0	4704	1116	39	1	306	1	DOLPP1	9	131847515	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	258104	131847515	9365916	1008	104028											
USP20	10868	broad.mit.edu	37	chr9	132637208	132637208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgagacggtggtgcagaaCgccgagggctacgtactctt	14	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:132637208C>T	uc004bys.2	+	19	2233	c.2022C>T	c.(2020-2022)AAC>AAT	p.N674N	USP20_uc004byr.2_Silent_p.N674N|USP20_uc004byt.1_Silent_p.N674N	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	674					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	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				TGGTGCAGAACGCCGAGGGCT	0.607													T	132637208	C	T	132637208	2	4	191	1	0	0	0	0	0	0	0	1	17049	535	19	1		1	USP20	9	132637208	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	789693	132637208	8576223	1009	104029											
ABL1	25	broad.mit.edu	37	chr9	133760024	133760024	+	Frame_Shift_Del	DEL	C	C	-													cccgaggcacagtaacgcctCcccccaggctggtgaaaaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:133760023_133760023TC>T	uc004bzw.3	+	10	2349	c.2346_2346TC>T	c.(2344-2346)cctfs	p.P782fs	ABL1_uc004bzv.3_Frame_Shift_Del_p.P801fs	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	782	Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|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|SH3 domain 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			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)	CAGTAACGCCTCCCCCCAGGC	0.592			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								-	133760024	C	-	133760024	7	5	191	1	0	1	0	1	0	0	0	0	92	855	30	0	2529	0	ABL1	9	133760024	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1122816	133760024	7453407	1010	104030											
LAMC3	10319	broad.mit.edu	37	chr9	133901719	133901719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgaagttccacaccagtCgccctgagagctttgccatc	10	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:133901719C>T	uc004caa.1	+	2	519	c.421C>T	c.(421-423)CGC>TGC	p.R141C		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	141	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCACACCAGTCGCCCTGAGAG	0.592													T	133901719	C	T	133901719	3	4	191	1	0	0	0	0	1	0	0	0	8616	884	31	1	427	1	LAMC3	9	133901719	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	141695	133901719	7311712	1011	104031											
POMT1	10585	broad.mit.edu	37	chr9	134393862	134393862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggatctgacacagacGtctggaagaccatcctctca	9	12	3	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:134393862G>A	uc004cav.2	+	14	1571	c.1369G>A	c.(1369-1371)GTC>ATC	p.V457I	POMT1_uc004cax.2_Missense_Mutation_p.V435I|POMT1_uc011mcj.1_Missense_Mutation_p.V213I|POMT1_uc004cau.2_Missense_Mutation_p.V435I|POMT1_uc004caw.2_Missense_Mutation_p.V381I|POMT1_uc011mck.1_Missense_Mutation_p.V318I|POMT1_uc011mcl.1_Missense_Mutation_p.V283I|POMT1_uc011mcm.1_Missense_Mutation_p.V405I|POMT1_uc011mcn.1_Missense_Mutation_p.V160I	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	457	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGACACAGACGTCTGGAAGAC	0.448													A	134393862	G	A	134393862	3	1	191	1	0	0	0	0	1	0	0	0	12245	1145	40	1	1419	1	POMT1	9	134393862	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	492143	134393862	6819569	1012	104032											
NTNG2	84628	broad.mit.edu	37	chr9	135102276	135102276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacctgtgctccatgcgcGagggcagcctgcagtgcgag	14	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135102276G>A	uc004cbh.2	+	4	1674	c.898G>A	c.(898-900)GAG>AAG	p.E300K		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	300	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTCCATGCGCGAGGGCAGCCT	0.657													A	135102276	G	A	135102276	3	1	191	1	0	0	0	0	1	0	0	0	10705	1059	37	1	908	1	NTNG2	9	135102276	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	708414	135102276	6111155	1013	104033											
GTF3C4	9329	broad.mit.edu	37	chr9	135554691	135554692	+	Frame_Shift_Ins	INS	-	-	A													tttttacaagaagctttggaINSaaaaaagattgaaagcagtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135554690_135554691G>GA	uc010mzv.3	+	1	1942_1943	c.1684_1685G>GA	c.(1684-1686)gaafs	p.E562fs	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	562					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)		AGAAGCTTTGGAAAAAAAGATT	0.351													A	135554692	-	A	135554691	7	5	191	1	0	1	1	0	0	0	0	0	6875	246	9	0	1691	0	GTF3C4	9	135554691	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	452415	135554691	5658740	1014	104034											
C9orf98	158067	broad.mit.edu	37	chr9	135690055	135690055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaaagaagggctggaTgagctcgccaaacgtggtcc	12	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135690055T>C	uc004cbu.1	-	10	1505	c.949A>G	c.(949-951)ATC>GTC	p.I317V	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.I113V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	317	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		AAGGGCTGGATGAGCTCGCCA	0.498													C	135690055	T	C	135690055	3	2	191	1	0	0	0	0	1	0	0	0	2509	1464	51	3	506	3	C9orf98	9	135690055	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	135364	135690055	5523376	1015	104035											
GTF3C5	9328	broad.mit.edu	37	chr9	135906432	135906432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgatttggggctggggGccgccgtccccgtggagctg	19	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135906432G>A	uc004cci.3	+	1	371	c.34G>A	c.(34-36)GCC>ACC	p.A12T	GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.A12T	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	12						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGGGCTGGGGGCCGCCGTCCC	0.692													A	135906432	G	A	135906432	3	1	191	1	0	0	0	0	1	0	0	0	6876	1203	42	2	36	2	GTF3C5	9	135906432	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	216377	135906432	5306999	1016	104036											
SURF1	6834	broad.mit.edu	37	chr9	136219368	136219368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcttccaggtctcgataAtgccagtggttcctttctgg	10	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:136219368A>C	uc004cdh.1	-	7	716	c.684T>G	c.(682-684)CAT>CAG	p.H228Q	SURF1_uc004cdg.1_Missense_Mutation_p.H119Q	NM_003172	NP_003163	Q15526	SURF1_HUMAN	surfeit 1	228					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)	2				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		GGTCTCGATAATGCCAGTGGT	0.512											OREG0019585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	136219368	A	C	136219368	3	2	191	1	0	0	0	0	1	0	0	0	15400	98	4	5	230	5	SURF1	9	136219368	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	312936	136219368	4994063	1017	104037											
C9orf96	169436	broad.mit.edu	37	chr9	136262382	136262382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggtgcctgcgtccatcAccgacatgctgttagaaggc	12	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:136262382A>G	uc004cdk.2	+	10	1019	c.958A>G	c.(958-960)ACC>GCC	p.T320A	C9orf96_uc004cdl.2_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	320							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGCGTCCATCACCGACATGCT	0.587													G	136262382	A	G	136262382	3	3	191	1	0	0	0	0	1	0	0	0	2508	159	6	3	996	3	C9orf96	9	136262382	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	43014	136262382	4951049	1018	104038											
VAV2	7410	broad.mit.edu	37	chr9	136662911	136662911	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctccatgtggctgcagTactccccgtagatcagaagc	11	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:136662911T>C	uc004ces.2	-	10	903	c.857A>G	c.(856-858)TAC>TGC	p.Y286C	VAV2_uc004cer.2_Missense_Mutation_p.Y281C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	286	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			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTGGCTGCAGTACTCCCCGTA	0.592													C	136662911	T	C	136662911	3	2	191	1	0	0	0	0	1	0	0	0	17129	1638	57	3	1863	3	VAV2	9	136662911	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	400529	136662911	4550520	1019	104039											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019599	+	Frame_Shift_Ins	INS	-	-	C													ttattgcagatgacgacaacINSccccccgtgtcttttgtgaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:137019597_137019598A>AC	uc004cey.3	+	9	812_813	c.641_642A>AC	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Ins_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					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)		GATGACGACAACCCCCCCGTGT	0.624													C	137019599	-	C	137019598	7	5	191	1	0	1	1	0	0	0	0	0	17300	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	356687	137019598	4193833	1020	104040											
COL5A1	1289	broad.mit.edu	37	chr9	137591897	137591897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctctcccgtcttcctctaCgaggaccacacggggaagcc	10	17	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:137591897C>T	uc004cfe.2	+	3	802	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		TCTTCCTCTACGAGGACCACA	0.607													T	137591897	C	T	137591897	2	4	191	1	0	0	0	0	0	0	0	1	3696	547	19	1		1	COL5A1	9	137591897	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	572299	137591897	3621534	1021	104041											
FCN1	2219	broad.mit.edu	37	chr9	137804344	137804344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctaccctgggcagtcaGggcgtggatgttgtcattcc	14	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:137804344G>T	uc004cfi.2	-	7	678	c.586C>A	c.(586-588)CTG>ATG	p.L196M		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	196	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGGGCAGTCAGGGCGTGGATG	0.637													T	137804344	G	T	137804344	3	4	191	1	0	0	0	0	1	0	0	0	5791	991	35	5	406	5	FCN1	9	137804344	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	212447	137804344	3409087	1022	104042											
OLFM1	10439	broad.mit.edu	37	chr9	138011566	138011566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagaccatcctcaagaccCgcagcctggactatgccggt	10	15	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:138011566C>T	uc010nar.2	+	6	1316	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	OLFM1_uc004cfl.3_Missense_Mutation_p.R316C|OLFM1_uc004cfn.3_Missense_Mutation_p.R85C	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	334	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCTCAAGACCCGCAGCCTGGA	0.562													T	138011566	C	T	138011566	3	4	191	1	0	0	0	0	1	0	0	0	10852	652	23	1	978	1	OLFM1	9	138011566	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	207222	138011566	3201865	1023	104043											
SNAPC4	6621	broad.mit.edu	37	chr9	139278455	139278455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagccagaccgatgggGcagctcagaagctatttttg	14	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139278455G>A	uc004chh.2	-	14	1459	c.1450C>T	c.(1450-1452)CCC>TCC	p.P484S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	484	HTH myb-type 3.|H-T-H motif (By similarity).				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GACCGATGGGGCAGCTCAGAA	0.527													A	139278455	G	A	139278455	3	1	191	1	0	0	0	0	1	0	0	0	14837	1203	42	2	2995	2	SNAPC4	9	139278455	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1266889	139278455	1934976	1024	104044											
SEC16A	9919	broad.mit.edu	37	chr9	139369409	139369412	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													gacagagctggttggaatccCagacaaagaagtgttctccc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139369408_139369411CCAGA>C	uc004chx.3	-	2	2966_2969	c.2657_2660TCTGG>G	c.(2656-2661)tctgggfs	p.S886fs	SEC16A_uc004chv.4_Intron|SEC16A_uc004chw.3_Frame_Shift_Del_p.S886fs|SEC16A_uc010nbn.3_Frame_Shift_Del_p.S886fs|SEC16A_uc010nbo.1_Frame_Shift_Del_p.S886fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	708					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum 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)		GGTTGGAATCCCAGACAAAGAAGT	0.5													-	139369412	CAGA	-	139369409	7	5	191	1	0	1	0	1	0	0	0	0	13986	594	21	0	4534	0	SEC16A	9	139369409	Frame_Shift_Del	DEL	CAGA	TCGA-CG-5723-01A-11D-1600-08	90954	139369409	1844022	1025	104045											
MAMDC4	158056	broad.mit.edu	37	chr9	139748023	139748023	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggccgttggaacccacCgagggaaagaggcatccacc	12	13	0	1	rs146167637	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139748023C>T	uc004cjs.2	+	4	405	c.355C>T	c.(355-357)CGA>TGA	p.R119*	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	119	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		TGGAACCCACCGAGGGAAAGA	0.657													T	139748023	C	T	139748023	4	4	191	1	0	0	0	0	0	1	0	0	9204	644	23	1	369	1	MAMDC4	9	139748023	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	378614	139748023	1465408	1026	104046											
C9orf139	401563	broad.mit.edu	37	chr9	139929124	139929124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggcggcagttcctgcaGgaaggaggctgtcctgccac	14	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139929124G>A	uc004ckp.1	+	3	1705	c.191G>A	c.(190-192)AGG>AAG	p.R64K	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	64											0	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)		AGTTCCTGCAGGAAGGAGGCT	0.667													A	139929124	G	A	139929124	3	1	191	1	0	0	0	0	1	0	0	0	2459	1000	35	4	197	4	C9orf139	9	139929124	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	181101	139929124	1284307	1027	104047											
TPRN	286262	broad.mit.edu	37	chr9	140093439	140093441	+	Splice_Site	DEL	CTT	CTT	-													gccctgcccccaccactgacCttctttcttgaggagccagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140093438_140093440CCTT>C	uc004clt.3	-	1	1725	c.1725_splice	c.e1+1	p.K575_splice	TPRN_uc004clu.3_Splice_Site_p.K575_splice	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	575					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCACCACTGACCTTCTTTCTTGA	0.626													-	140093441	CTT	-	140093439	8	5	191	1	0	1	0	1	0	0	1	0	16418	695	24	0	506	0	TPRN	9	140093439	Splice_Site	DEL	CTT	TCGA-CG-5723-01A-11D-1600-08	164315	140093439	1119992	1028	104048											
SLC34A3	142680	broad.mit.edu	37	chr9	140130434	140130434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttcttcttcaacctgGccggcatcctgctgtggtac	8	15	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140130434G>A	uc004cmf.1	+	13	1552	c.1366G>A	c.(1366-1368)GCC>ACC	p.A456T	SLC34A3_uc011met.1_Missense_Mutation_p.A456T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	456	Helical; Name=M6; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTTCAACCTGGCCGGCATCCT	0.711											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140130434	G	A	140130434	3	1	191	1	0	0	0	0	1	0	0	0	14569	1203	42	2	1412	2	SLC34A3	9	140130434	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	36995	140130434	1082997	1029	104049											
SLC34A3	142680	broad.mit.edu	37	chr9	140130512	140130512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttcggggtggtgaccGcccgttaccgctgggtggct	17	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140130512G>A	uc004cmf.1	+	13	1630	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T	SLC34A3_uc011met.1_Missense_Mutation_p.A482T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	482	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTGGTGACCGCCCGTTACCG	0.682											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140130512	G	A	140130512	3	1	191	1	0	0	0	0	1	0	0	0	14569	1087	38	1	1490	1	SLC34A3	9	140130512	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	78	140130512	1082919	1030	104050											
C9orf173	441476	broad.mit.edu	37	chr9	140147666	140147666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtacgcagacccaagcGccacgacacaggccccttct	11	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140147666G>A	uc004cmk.1	+	6	921	c.909G>A	c.(907-909)GCG>GCA	p.A303A	C9orf173_uc004cmj.1_Missense_Mutation_p.R299H|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.R243H|C9orf173_uc004cml.1_Silent_p.A248A|COBRA1_uc004cmm.3_5'Flank			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	307										pancreas(1)	1						AGACCCAAGCGCCACGACACA	0.682													A	140147666	G	A	140147666	2	1	191	1	0	0	0	0	0	0	0	1	2472	1087	38	1		1	C9orf173	9	140147666	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	17154	140147666	1065765	1031	104051											
WDR37	22884	broad.mit.edu	37	chr10	1126020	1126020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgattgatggagcagagcTgagtaagggccaactcaaaa	13	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:1126020T>C	uc001igf.1	+	4	478	c.305T>C	c.(304-306)CTG>CCG	p.L102P	WDR37_uc001ige.2_Missense_Mutation_p.L102P|WDR37_uc009xhm.1_Missense_Mutation_p.L102P|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	102											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GGAGCAGAGCTGAGTAAGGGC	0.393													C	1126020	T	C	1126020	3	2	191	1	0	0	0	0	1	0	0	0	17288	1580	55	3	315	3	WDR37	10	1126020	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08		1126020	134408727	1032	104052											
NET1	10276	broad.mit.edu	37	chr10	5493800	5493800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtttttataggagccaaGcaataaaagagttcgacctc	8	7	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:5493800G>T	uc001iia.2	+	4	401	c.263G>T	c.(262-264)AGC>ATC	p.S88I	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.S34I|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	88					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(1)	1						TAGGAGCCAAGCAATAAAAGA	0.388													T	5493800	G	T	5493800	3	4	191	1	0	0	0	0	1	0	0	0	10338	971	34	5	374	5	NET1	10	5493800	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4367780	5493800	130040947	1033	104053											
NET1	10276	broad.mit.edu	37	chr10	5494448	5494448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagatgctggacatcaccaTgaaggagtctctcaccacca	9	12	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:5494448T>C	uc001iia.2	+	5	629	c.491T>C	c.(490-492)ATG>ACG	p.M164T	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.M110T|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	164					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(1)	1						GACATCACCATGAAGGAGTCT	0.532													C	5494448	T	C	5494448	3	2	191	1	0	0	0	0	1	0	0	0	10338	1464	51	3	606	3	NET1	10	5494448	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	648	5494448	130040299	1034	104054											
C10orf18	54906	broad.mit.edu	37	chr10	5791573	5791573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacacagccagcagtctGgacagctcttcctcttggag	11	13	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:5791573G>A	uc001iij.2	+	15	6814	c.6189G>A	c.(6187-6189)CTG>CTA	p.L2063L	C10orf18_uc001iik.2_Silent_p.L907L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2063										ovary(1)|central_nervous_system(1)	2						CCAGCAGTCTGGACAGCTCTT	0.483													A	5791573	G	A	5791573	2	1	191	1	0	0	0	0	0	0	0	1	1596	1335	47	4		4	C10orf18	10	5791573	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	297125	5791573	129743174	1035	104055											
ITIH2	3698	broad.mit.edu	37	chr10	7759669	7759669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagttcgaacttcactAccaggaggtgaagtggagga	15	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:7759669A>G	uc001ijs.2	+	6	710	c.548A>G	c.(547-549)TAC>TGC	p.Y183C		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	183	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GAACTTCACTACCAGGAGGTG	0.512													G	7759669	A	G	7759669	3	3	191	1	0	0	0	0	1	0	0	0	7904	391	14	3	570	3	ITIH2	10	7759669	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1968096	7759669	127775078	1036	104056											
ITIH2	3698	broad.mit.edu	37	chr10	7771947	7771947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaaattcagaaaaacGttaaggagaacatccaagac	7	7	2	3	rs147442256		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:7771947G>A	uc001ijs.2	+	12	1474	c.1312G>A	c.(1312-1314)GTT>ATT	p.V438I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	438	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						TCAGAAAAACGTTAAGGAGAA	0.368													A	7771947	G	A	7771947	3	1	191	1	0	0	0	0	1	0	0	0	7904	1145	40	1	1358	1	ITIH2	10	7771947	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	12278	7771947	127762800	1037	104057											
TAF3	83860	broad.mit.edu	37	chr10	8006284	8006284	+	Frame_Shift_Del	DEL	A	A	-													aaacaaagtcatttacacctAaaacaaagactaaaactagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:8006283_8006283TA>T	uc010qbd.2	+	2	810	c.810_810TA>T	c.(808-810)cctfs	p.P270fs		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	270					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						CATTTACACCTAAAACAAAGA	0.453													-	8006284	A	-	8006284	7	5	191	1	0	1	0	1	0	0	0	0	15522	363	13	0	821	0	TAF3	10	8006284	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	234337	8006284	127528463	1038	104058											
TAF3	83860	broad.mit.edu	37	chr10	8006390	8006390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgatcaccaaaaactgtatCcaaagaaaagaaatcacctg	5	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:8006390C>T	uc010qbd.1	+	3	917	c.917C>T	c.(916-918)TCC>TTC	p.S306F		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	306					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			ovary(1)	1						AAAACTGTATCCAAAGAAAAG	0.383													T	8006390	C	T	8006390	3	4	191	1	0	0	0	0	1	0	0	0	15522	855	30	4	927	4	TAF3	10	8006390	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	106	8006390	127528357	1039	104059											
TAF3	83860	broad.mit.edu	37	chr10	8056685	8056685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaagaaggacaaaaagCacaagaagaggaagcatcga	11	6	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:8056685C>T	uc010qbd.1	+	7	2761	c.2761C>T	c.(2761-2763)CAC>TAC	p.H921Y		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	921					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			ovary(1)	1						GGACAAAAAGCACAAGAAGAG	0.587													T	8056685	C	T	8056685	3	4	191	1	0	0	0	0	1	0	0	0	15522	710	25	2	2787	2	TAF3	10	8056685	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	50295	8056685	127478062	1040	104060											
DHTKD1	55526	broad.mit.edu	37	chr10	12162823	12162823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccctttgccagtacccgCtgtaggaattggcacagttc	10	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:12162823C>A	uc001ild.3	+	17	2795	c.2696C>A	c.(2695-2697)GCT>GAT	p.A899D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	899					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCAGTACCCGCTGTAGGAATT	0.458													A	12162823	C	A	12162823	3	1	191	1	0	0	0	0	1	0	0	0	4500	797	28	5	2762	5	DHTKD1	10	12162823	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4106138	12162823	123371924	1041	104061											
OPTN	10133	broad.mit.edu	37	chr10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-													gtgaaagcacaggaaatggaCccccccacctggcccaccca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|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						CAGGAAATGGACCCCCCCACC	0.562													-	13151192	C	-	13151192	7	5	191	1	0	1	0	1	0	0	0	0	10889	507	18	0	72	0	OPTN	10	13151192	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	988369	13151192	122383555	1042	104062											
MCM10	55388	broad.mit.edu	37	chr10	13240764	13240764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatctgaggaatttcagaAaatcctaaaagcaaaatcaa	7	6	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:13240764A>G	uc001ima.2	+	16	2299	c.2198A>G	c.(2197-2199)AAA>AGA	p.K733R	MCM10_uc001imb.2_Missense_Mutation_p.K732R|MCM10_uc001imc.2_Missense_Mutation_p.K732R	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	733					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			ovary(2)|central_nervous_system(1)	3						GAATTTCAGAAAATCCTAAAA	0.438													G	13240764	A	G	13240764	3	3	191	1	0	0	0	0	1	0	0	0	9385	14	1	3	2256	3	MCM10	10	13240764	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	89572	13240764	122293983	1043	104063											
BEND7	222389	broad.mit.edu	37	chr10	13523008	13523008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcttgtcatcaaaaaaCgcacacaccagttttctaaa	4	10	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:13523008C>T	uc001imm.2	-	6	1095	c.798G>A	c.(796-798)GCG>GCA	p.A266A	BEND7_uc001imn.2_Silent_p.A27A|BEND7_uc001imo.3_Silent_p.A279A	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	318	BEN.						protein binding			ovary(1)|breast(1)	2						CATCAAAAAACGCACACACCA	0.433													T	13523008	C	T	13523008	2	4	191	1	0	0	0	0	0	0	0	1	1403	523	19	1		1	BEND7	10	13523008	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	282244	13523008	122011739	1044	104064											
FAM107B	83641	broad.mit.edu	37	chr10	14816491	14816491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtctgcctgctttggCcacaggctgcacacggacgg	14	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:14816491C>T	uc001ina.1	-	1	406	c.172G>A	c.(172-174)GCC>ACC	p.A58T	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						CCTGCTTTGGCCACAGGCTGC	0.562													T	14816491	C	T	14816491	3	4	191	1	0	0	0	0	1	0	0	0	5390	739	26	2	768	2	FAM107B	10	14816491	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1293483	14816491	120718256	1045	104065											
CUBN	8029	broad.mit.edu	37	chr10	16992003	16992003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaacgctgaggtacctcGgaggggcgcgtcttcgtggc	17	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:16992003G>A	uc001ioo.2	-	34	5129	c.5077C>T	c.(5077-5079)CGA>TGA	p.R1693*		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1693	CUB 11.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTACCTCGGAGGGGCGCG	0.463													A	16992003	G	A	16992003	4	1	191	1	0	0	0	0	0	1	0	0	4051	1124	39	1	5930	1	CUBN	10	16992003	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2175512	16992003	118542744	1046	104066											
CUBN	8029	broad.mit.edu	37	chr10	17026127	17026127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgactgcttgccatgacGcattgaagcctctcccattt	8	13	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:17026127G>A	uc001ioo.2	-	30	4554	c.4502C>T	c.(4501-4503)GCG>GTG	p.A1501V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1501	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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCCATGACGCATTGAAGCC	0.473													A	17026127	G	A	17026127	3	1	191	1	0	0	0	0	1	0	0	0	4051	1087	38	1	6521	1	CUBN	10	17026127	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	34124	17026127	118508620	1047	104067											
CUBN	8029	broad.mit.edu	37	chr10	17152969	17152969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtattcacacactcaaCgggtggagccacagaacagc	11	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:17152969C>T	uc001ioo.2	-	9	1016	c.964G>A	c.(964-966)GTT>ATT	p.V322I		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	322	EGF-like 4; calcium-binding (Potential).				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACACTCAACGGGTGGAGCC	0.512													T	17152969	C	T	17152969	3	4	191	1	0	0	0	0	1	0	0	0	4051	536	19	1	10143	1	CUBN	10	17152969	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	126842	17152969	118381778	1048	104068											
KIAA1217	56243	broad.mit.edu	37	chr10	24832910	24832911	+	Frame_Shift_Ins	INS	-	-	A													ccagtttgaaagccccaagaINSaaaagtttaaattcaaattc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:24832909_24832910G>GA	uc001iru.4	+	18	5113_5114	c.4710_4711G>GA	c.(4708-4713)aagaaafs	p.K1570fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1570					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						AAAGCCCCAAGAAAAAGTTTAA	0.465													A	24832911	-	A	24832910	7	5	191	1	0	1	1	0	0	0	0	0	8216	247	9	0	4785	0	KIAA1217	10	24832910	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	7679941	24832910	110701837	1049	104069											
GPR158	57512	broad.mit.edu	37	chr10	25701295	25701295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgacagcccatgcttcGtccaggaagataagtattta	9	9	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:25701295G>A	uc001isj.2	+	4	1288	c.1228G>A	c.(1228-1230)GTC>ATC	p.V410I		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	410	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CCCATGCTTCGTCCAGGAAGA	0.498													A	25701295	G	A	25701295	3	1	191	1	0	0	0	0	1	0	0	0	6663	1145	40	1	1242	1	GPR158	10	25701295	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	868385	25701295	109833452	1050	104070											
GPR158	57512	broad.mit.edu	37	chr10	25887671	25887671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgaaatggagaaaaAccccactttttccttaaagg	8	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:25887671A>C	uc001isj.2	+	11	3176	c.3116A>C	c.(3115-3117)AAC>ACC	p.N1039T	GPR158_uc001isk.2_Missense_Mutation_p.N414T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1039	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ATGGAGAAAAACCCCACTTTT	0.453													C	25887671	A	C	25887671	3	2	191	1	0	0	0	0	1	0	0	0	6663	43	2	5	3158	5	GPR158	10	25887671	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	186376	25887671	109647076	1051	104071											
ACBD5	91452	broad.mit.edu	37	chr10	27512289	27512289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttatatcagaactcctGccactctttttgtcctcgac	7	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:27512289G>A	uc010qdp.1	-	5	659	c.468C>T	c.(466-468)GGC>GGT	p.G156G	ACBD5_uc010qdm.1_Silent_p.G154G|ACBD5_uc010qdn.1_Silent_p.G47G|ACBD5_uc010qdo.1_Silent_p.G47G|ACBD5_uc001ito.2_Silent_p.G121G|ACBD5_uc001itp.2_Silent_p.G47G|ACBD5_uc001itq.2_Silent_p.G47G|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	154					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						CAGAACTCCTGCCACTCTTTT	0.318													A	27512289	G	A	27512289	2	1	191	1	0	0	0	0	0	0	0	1	125	1306	46	2		2	ACBD5	10	27512289	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1624618	27512289	108022458	1052	104072											
MKX	283078	broad.mit.edu	37	chr10	28030368	28030368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtaaagccactgcttgAggggtcgcgccatgtcttgc	13	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:28030368A>G	uc001ity.3	-	3	479	c.254T>C	c.(253-255)CTC>CCC	p.L85P	MKX_uc001itx.3_Missense_Mutation_p.L85P	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	85	Homeobox; TALE-type.				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCACTGCTTGAGGGGTCGCGC	0.632													G	28030368	A	G	28030368	3	3	191	1	0	0	0	0	1	0	0	0	9610	304	11	3	824	3	MKX	10	28030368	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	518079	28030368	107504379	1053	104073											
MKX	283078	broad.mit.edu	37	chr10	28030415	28030415	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgccgcttgtgcctcaccttCccgccattctgccgggcgct	10	18	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:28030415C>G	uc001ity.3	-	3	432	c.207G>C	c.(205-207)GGG>GGC	p.G69G	MKX_uc001itx.3_Silent_p.G69G	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	69					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCTCACCTTCCCGCCATTCT	0.692													G	28030415	C	G	28030415	2	3	191	1	0	0	0	0	0	0	0	1	9610	842	30	5		5	MKX	10	28030415	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	47	28030415	107504332	1054	104074											
SVIL	6840	broad.mit.edu	37	chr10	29777554	29777554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcaacagcatcagccTcttgtagggcacggcgctgt	11	12	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:29777554T>C	uc001iut.1	-	23	5077	c.4324A>G	c.(4324-4326)AGG>GGG	p.R1442G	SVIL_uc010qdw.1_Missense_Mutation_p.R356G|SVIL_uc001iuu.1_Missense_Mutation_p.R1016G|SVIL_uc009xlc.2_Missense_Mutation_p.R234G	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1442	Gelsolin-like 1.|Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				AGCATCAGCCTCTTGTAGGGC	0.547													C	29777554	T	C	29777554	3	2	191	1	0	0	0	0	1	0	0	0	15418	1550	54	3	2384	3	SVIL	10	29777554	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1747139	29777554	105757193	1055	104075											
SVIL	6840	broad.mit.edu	37	chr10	29788162	29788162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctctcctcaatcgTcatttggctctctcgacttt	5	15	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:29788162T>C	uc001iut.1	-	18	4300	c.3547A>G	c.(3547-3549)ACG>GCG	p.T1183A	SVIL_uc010qdw.1_Missense_Mutation_p.T97A|SVIL_uc001iuu.1_Missense_Mutation_p.T757A|SVIL_uc009xlc.2_5'Flank	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1183					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TCCTCAATCGTCATTTGGCTC	0.542													C	29788162	T	C	29788162	3	2	191	1	0	0	0	0	1	0	0	0	15418	1667	58	3	3181	3	SVIL	10	29788162	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	10608	29788162	105746585	1056	104076											
KIAA1462	57608	broad.mit.edu	37	chr10	30336508	30336508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctggggctccccgtgGcctctcggtgtgctgcggcg	17	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:30336508G>A	uc001iux.2	-	1	293	c.234C>T	c.(232-234)GGC>GGT	p.G78G	KIAA1462_uc001iuy.2_Silent_p.G78G|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Silent_p.G78G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	78										ovary(4)	4						GCTCCCCGTGGCCTCTCGGTG	0.612													A	30336508	G	A	30336508	2	1	191	1	0	0	0	0	0	0	0	1	8234	1190	42	2		2	KIAA1462	10	30336508	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	548346	30336508	105198239	1057	104077											
ARHGAP12	94134	broad.mit.edu	37	chr10	32120692	32120692	+	Frame_Shift_Del	DEL	T	T	-													ctttttcccattttcagcaaTttttgttacatttaataatc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:32120691_32120691AT>A	uc001ivz.1	-	9	1694	c.1424_1424AT>T	c.(1423-1425)attfs	p.I475fs	ARHGAP12_uc001ivy.1_Frame_Shift_Del_p.I421fs|ARHGAP12_uc009xls.2_Frame_Shift_Del_p.I426fs|ARHGAP12_uc001iwb.1_Frame_Shift_Del_p.I468fs|ARHGAP12_uc001iwc.1_Frame_Shift_Del_p.I443fs|ARHGAP12_uc009xlq.1_Frame_Shift_Del_p.I396fs|ARHGAP12_uc009xlr.1_Frame_Shift_Del_p.I473fs	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	475	PH.				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)				ATTTTCAGCAATTTTTGTTAC	0.279													-	32120692	T	-	32120692	7	5	191	1	0	1	0	1	0	0	0	0	865	1493	52	0	1161	0	ARHGAP12	10	32120692	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1784184	32120692	103414055	1058	104078											
ZNF33A	7581	broad.mit.edu	37	chr10	38345312	38345312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctatgaatgtaacacaTgcaggaaaactttctctcaa	6	10	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:38345312T>C	uc001izh.2	+	5	2435	c.2257T>C	c.(2257-2259)TGC>CGC	p.C753R	ZNF33A_uc001izg.2_Missense_Mutation_p.C754R|ZNF33A_uc010qev.1_Missense_Mutation_p.C760R|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	753	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						ATGTAACACATGCAGGAAAAC	0.353													C	38345312	T	C	38345312	3	2	191	1	0	0	0	0	1	0	0	0	17851	1464	51	3	2274	3	ZNF33A	10	38345312	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	6224620	38345312	97189435	1059	104079											
AGAP4	119016	broad.mit.edu	37	chr10	46322015	46322015	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgttcccacgcatgttttggAtcgactgcagggccatggcc	12	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:46322015A>T	uc001jcx.3	-	7	1466	c.1340T>A	c.(1339-1341)ATC>AAC	p.I447N	AGAP4_uc010qfl.1_Missense_Mutation_p.I470N|AGAP4_uc001jcy.3_Missense_Mutation_p.I362N|uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	447	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			ovary(1)	1						CATGTTTTGGATCGACTGCAG	0.557													T	46322015	A	T	46322015	3	4	191	1	0	0	0	0	1	0	0	0	370	333	12	5	655	5	AGAP4	10	46322015	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	7976703	46322015	89212732	1060	104080											
RBP3	5949	broad.mit.edu	37	chr10	48389993	48389993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccccgctgccctcccaCgtctggctgcctccaccaag	8	21	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:48389993C>T	uc001jez.2	-	1	999	c.885G>A	c.(883-885)ACG>ACA	p.T295T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	295	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TGCCCTCCCACGTCTGGCTGC	0.692													T	48389993	C	T	48389993	2	4	191	1	0	0	0	0	0	0	0	1	13157	523	19	1		1	RBP3	10	48389993	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2067978	48389993	87144754	1061	104081											
SGMS1	259230	broad.mit.edu	37	chr10	52103731	52103731	+	Frame_Shift_Del	DEL	G	G	-													tcagaggagactcggcacaaGgggggttttttgaaatcctc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:52103730_52103730AG>A	uc001jje.3	-	6	1099	c.145_145CT>T	c.(145-147)ttgfs	p.L49fs	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Frame_Shift_Del_p.L49fs|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Frame_Shift_Del_p.L49fs|SGMS1_uc021pqo.1_Frame_Shift_Del_p.L49fs|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	55	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.L49fs*15(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACTCGGCACAAGGGGGGTTTT	0.512													-	52103731	G	-	52103731	7	5	191	1	0	1	0	1	0	0	0	0	14214	987	35	0	1117	0	SGMS1	10	52103731	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	3713738	52103731	83431016	1062	104082											
DKK1	22943	broad.mit.edu	37	chr10	54074424	54074424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggaataagtaccagaccaTtgacaactaccaggtgagag	11	9	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:54074424T>C	uc001jjr.2	+	1	384	c.230T>C	c.(229-231)ATT>ACT	p.I77T	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	77					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TACCAGACCATTGACAACTAC	0.627											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	54074424	T	C	54074424	3	2	191	1	0	0	0	0	1	0	0	0	4544	1493	52	3	232	3	DKK1	10	54074424	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1970693	54074424	81460323	1063	104083											
MBL2	4153	broad.mit.edu	37	chr10	54530516	54530516	+	Frame_Shift_Del	DEL	G	G	-													ctggaggccccaactttccaGgggggccctgtaagcctctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:54530515_54530515AG>A	uc001jjt.3	-	1	284	c.219_219CT>T	c.(217-219)cctfs	p.P73fs		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	73	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	p.P72P(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCAACTTTCCAGGGGGGCCCT	0.527													-	54530516	G	-	54530516	7	5	191	1	0	1	0	1	0	0	0	0	9350	1000	35	0	540	0	MBL2	10	54530516	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	456092	54530516	81004231	1064	104084											
PCDH15	65217	broad.mit.edu	37	chr10	55912943	55912943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatttccacccctggagcGatggtgataagccctgttgt	10	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:55912943G>A	uc001jju.1	-	14	2096	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	PCDH15_uc010qhq.1_Silent_p.I572I|PCDH15_uc010qhr.1_Silent_p.I567I|PCDH15_uc010qhs.1_Silent_p.I579I|PCDH15_uc010qht.1_Silent_p.I574I|PCDH15_uc010qhu.1_Silent_p.I567I|PCDH15_uc001jjv.1_Silent_p.I545I|PCDH15_uc010qhv.1_Silent_p.I567I|PCDH15_uc010qhw.1_Silent_p.I530I|PCDH15_uc010qhx.1_Silent_p.I567I|PCDH15_uc010qhy.1_Silent_p.I572I|PCDH15_uc010qhz.1_Silent_p.I567I|PCDH15_uc010qia.1_Silent_p.I545I|PCDH15_uc010qib.1_Silent_p.I545I|PCDH15_uc001jjw.2_Silent_p.I567I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	567	Cadherin 5.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCTGGAGCGATGGTGATAA	0.493										HNSCC(58;0.16)			A	55912943	G	A	55912943	2	1	191	1	0	0	0	0	0	0	0	1	11511	1048	37	1		1	PCDH15	10	55912943	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1382427	55912943	79621804	1065	104085											
ANK3	288	broad.mit.edu	37	chr10	61846456	61846456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatgctacagagaagacGcagattgggtgtagtgtccc	13	7	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:61846456G>A	uc001jky.2	-	30	3919	c.3727C>T	c.(3727-3729)CGT>TGT	p.R1243C	ANK3_uc001jkw.2_Missense_Mutation_p.R377C|ANK3_uc009xpa.2_Missense_Mutation_p.R377C|ANK3_uc001jkx.2_Missense_Mutation_p.R421C|ANK3_uc010qih.1_Missense_Mutation_p.R1244C|ANK3_uc001jkz.3_Missense_Mutation_p.R1237C|ANK3_uc001jla.1_Missense_Mutation_p.R309C|ANK3_uc001jlb.1_Missense_Mutation_p.R761C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1243					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CAGAGAAGACGCAGATTGGGT	0.418													A	61846456	G	A	61846456	3	1	191	1	0	0	0	0	1	0	0	0	622	1087	38	1	9775	1	ANK3	10	61846456	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5933513	61846456	73688291	1066	104086											
EGR2	1959	broad.mit.edu	37	chr10	64573060	64573060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtacccccaggctgcacGcccccagagcaggaggctgt	14	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:64573060G>A	uc010qim.1	-	3	1492	c.1338C>T	c.(1336-1338)GGC>GGT	p.G446G	EGR2_uc010qin.1_Silent_p.G396G|EGR2_uc001jmi.2_Silent_p.G446G|EGR2_uc010qio.1_Silent_p.G459G|EGR2_uc009xph.2_Silent_p.G446G	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	446					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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGGCTGCACGCCCCCAGAGC	0.642													A	64573060	G	A	64573060	2	1	191	1	0	0	0	0	0	0	0	1	4972	1074	38	1		1	EGR2	10	64573060	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2726604	64573060	70961687	1067	104087											
HKDC1	80201	broad.mit.edu	37	chr10	71010120	71010120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaagatcagaagtggaCggaggtcagtgcgaatgtac	16	5	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:71010120C>T	uc001jpf.3	+	11	1778	c.1645C>T	c.(1645-1647)CGG>TGG	p.R549W	HKDC1_uc010qje.1_Missense_Mutation_p.R412W	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	549					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						CAGAAGTGGACGGAGGTCAGT	0.557													T	71010120	C	T	71010120	3	4	191	1	0	0	0	0	1	0	0	0	7193	527	19	1	1687	1	HKDC1	10	71010120	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6437060	71010120	64524627	1068	104088											
SGPL1	8879	broad.mit.edu	37	chr10	72633180	72633180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaactatcagttcttcGtcgatacagattggcagggt	11	8	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:72633180G>A	uc001jrm.2	+	12	1354	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	378	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	TCAGTTCTTCGTCGATACAGA	0.502													A	72633180	G	A	72633180	3	1	191	1	0	0	0	0	1	0	0	0	14218	1145	40	1	1174	1	SGPL1	10	72633180	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1623060	72633180	62901567	1069	104089											
CDH23	64072	broad.mit.edu	37	chr10	73375330	73375330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaatggcctgctggaccGggagaaccccctgtacagcc	12	14	0	2	rs121908355		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:73375330G>A	uc001jrx.3	+	10	1279	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	CDH23_uc001jrw.3_Missense_Mutation_p.R301Q|CDH23_uc009xql.2_Missense_Mutation_p.R346Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	301	Cadherin 3.|Extracellular (Potential).		R -> Q (in DFNB12).		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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CTGCTGGACCGGGAGAACCCC	0.572													A	73375330	G	A	73375330	3	1	191	1	0	0	0	0	1	0	0	0	3108	1116	39	1	936	1	CDH23	10	73375330	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	742150	73375330	62159417	1070	104090											
MYOZ1	58529	broad.mit.edu	37	chr10	75394429	75394429	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgttgctcttgctgtatgaGaatccctgaccagctgtgcc	10	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:75394429G>T	uc001jur.2	-	4	680	c.315C>A	c.(313-315)TTC>TTA	p.F105L		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	105	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					TGCTGTATGAGAATCCCTGAC	0.577													T	75394429	G	T	75394429	3	4	191	1	0	0	0	0	1	0	0	0	10095	933	33	5	596	5	MYOZ1	10	75394429	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2019099	75394429	60140318	1071	104091											
PLAU	5328	broad.mit.edu	37	chr10	75673438	75673438	+	Frame_Shift_Del	DEL	G	G	-													ggccatctacaggaggcaccGggggggctctgtcacctacg					rs145070893	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:75673437_75673437CG>C	uc001jwa.3	+	6	747	c.601_601CG>C	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Del_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Del_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Del_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Del_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	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)	CAGGAGGCACCGGGGGGGCTC	0.587													-	75673438	G	-	75673438	7	5	191	1	0	1	0	1	0	0	0	0	12022	1116	39	0	662	0	PLAU	10	75673438	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	279009	75673438	59861309	1072	104092											
DUPD1	338599	broad.mit.edu	37	chr10	76803726	76803726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgggccgcgttcagcaCgtgcgtgaaccccgccttct	13	16	2	1	rs143238854	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:76803726C>T	uc001jwq.1	-	2	250	c.250G>A	c.(250-252)GTG>ATG	p.V84M		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	84	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCGTTCAGCACGTGCGTGAAC	0.706													T	76803726	C	T	76803726	3	4	191	1	0	0	0	0	1	0	0	0	4804	536	19	1	420	1	DUPD1	10	76803726	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1130288	76803726	58731021	1073	104093											
KCNMA1	3778	broad.mit.edu	37	chr10	78651358	78651358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctattggccagtgtctgCggggtgctgtagccacctct	12	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:78651358C>T	uc001jxn.2	-	26	3444	c.3267G>A	c.(3265-3267)CCG>CCA	p.P1089P	KCNMA1_uc001jxj.2_Silent_p.P1035P|KCNMA1_uc001jxk.1_Silent_p.P707P|KCNMA1_uc009xrt.1_Silent_p.P880P|KCNMA1_uc001jxl.1_Silent_p.P714P|KCNMA1_uc001jxo.2_Silent_p.P1072P|KCNMA1_uc001jxm.2_Silent_p.P1031P|KCNMA1_uc001jxq.2_Silent_p.P1061P|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1089	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	CCAGTGTCTGCGGGGTGCTGT	0.632													T	78651358	C	T	78651358	2	4	191	1	0	0	0	0	0	0	0	1	8073	755	27	1		1	KCNMA1	10	78651358	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1847632	78651358	56883389	1074	104094											
KCNMA1	3778	broad.mit.edu	37	chr10	78844418	78844418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatattcgaggcatcctcCgcatccgggtcagcgcagta	11	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:78844418C>T	uc001jxn.2	-	12	1677	c.1500G>A	c.(1498-1500)GCG>GCA	p.A500A	KCNMA1_uc001jxj.2_Silent_p.A500A|KCNMA1_uc001jxk.1_Silent_p.A115A|KCNMA1_uc009xrt.1_Silent_p.A320A|KCNMA1_uc001jxl.1_Silent_p.A154A|KCNMA1_uc001jxo.2_Silent_p.A500A|KCNMA1_uc001jxm.2_Silent_p.A500A|KCNMA1_uc001jxq.2_Silent_p.A500A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	500	RCK N-terminal.|Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	AGGCATCCTCCGCATCCGGGT	0.522													T	78844418	C	T	78844418	2	4	191	1	0	0	0	0	0	0	0	1	8073	639	23	1		1	KCNMA1	10	78844418	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	193060	78844418	56690329	1075	104095											
POLR3A	11128	broad.mit.edu	37	chr10	79764517	79764517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaggctgctgctgcagcTtgcccgtgttcagggcttcg	14	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:79764517T>G	uc001jzn.2	-	16	2298	c.2204A>C	c.(2203-2205)AAG>ACG	p.K735T		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	735					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				0	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)			CTGCTGCAGCTTGCCCGTGTT	0.592													G	79764517	T	G	79764517	3	3	191	1	0	0	0	0	1	0	0	0	12228	1609	56	5	2032	5	POLR3A	10	79764517	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	920099	79764517	55770230	1076	104096											
NRG3	10718	broad.mit.edu	37	chr10	83635626	83635626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgggtgcccatccgggCcagcccgcgctccaccacag	12	20	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:83635626C>T	uc001kco.2	+	1	557	c.530C>T	c.(529-531)GCC>GTC	p.A177V	NRG3_uc010qlz.1_Missense_Mutation_p.A177V|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	177	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCATCCGGGCCAGCCCGCGC	0.726													T	83635626	C	T	83635626	3	4	191	1	0	0	0	0	1	0	0	0	10649	739	26	2	532	2	NRG3	10	83635626	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3871109	83635626	51899121	1077	104097											
GLUD1	2746	broad.mit.edu	37	chr10	88854214	88854214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgatgatccgcaggaTgccgcgcacccggttccgct	14	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:88854214T>G	uc001keh.2	-	1	410	c.313A>C	c.(313-315)ATC>CTC	p.I105L	FAM35A_uc001kei.3_5'Flank|GLUD1_uc001keg.2_5'Flank|GLUD1_uc010qmp.1_5'Flank	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	105					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				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATCCGCAGGATGCCGCGCACC	0.662													G	88854214	T	G	88854214	3	3	191	1	0	0	0	0	1	0	0	0	6476	1464	51	5	1415	5	GLUD1	10	88854214	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	5218588	88854214	46680533	1078	104098											
LIPK	643414	broad.mit.edu	37	chr10	90492222	90492223	+	Frame_Shift_Ins	INS	-	-	T													ggctaaaaagattaagatatINStttttgcactggctccagtt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:90492221_90492222A>AT	uc010qmv.2	+	4	582_583	c.582_583A>AT	c.(580-585)atatttfs	p.I194fs		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	194					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		AGATTAAGATATTTTTTGCACT	0.356													T	90492223	-	T	90492222	7	5	191	1	0	1	1	0	0	0	0	0	8827	1493	52	0	601	0	LIPK	10	90492222	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	1638008	90492222	45042525	1079	104099											
PANK1	53354	broad.mit.edu	37	chr10	91371452	91371452	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagacaaacccgacctaCcattctgaagtcctcttcga	5	14	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:91371452C>T	uc001kgp.1	-	2	1212	c.1056_splice	c.e2+1	p.M352_splice	PANK1_uc001kgn.1_Splice_Site_p.M127_splice|PANK1_uc001kgo.1_Splice_Site_p.M127_splice|PANK1_uc009xtu.1_Splice_Site_p.M154_splice	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha						coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	ACCCGACCTACCATTCTGAAG	0.428													T	91371452	C	T	91371452	5	4	191	1	0	0	0	0	0	0	1	0	11416	521	18	4	763	4	PANK1	10	91371452	Splice_Site	SNP	C	TCGA-CG-5723-01A-11D-1600-08	879230	91371452	44163295	1080	104100											
RPP30	10556	broad.mit.edu	37	chr10	92634643	92634643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttggctattcagttgttGctatcaatcatatcgttgac	8	8	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:92634643G>A	uc009xtx.2	+	2	135	c.100G>A	c.(100-102)GCT>ACT	p.A34T	RPP30_uc001khd.2_Missense_Mutation_p.A34T|RPP30_uc010qnj.1_Missense_Mutation_p.A34T	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	34					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						TTCAGTTGTTGCTATCAATCA	0.294													A	92634643	G	A	92634643	3	1	191	1	0	0	0	0	1	0	0	0	13612	1319	46	2	106	2	RPP30	10	92634643	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1263191	92634643	42900104	1081	104101											
BTAF1	9044	broad.mit.edu	37	chr10	93749219	93749219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgcacaacaaggacGccctgtcccaattcaaaaat	7	13	1	0	rs142341012		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:93749219G>A	uc001khr.2	+	20	2834	c.2736G>A	c.(2734-2736)ACG>ACA	p.T912T	BTAF1_uc001khs.1_Silent_p.T582T|BTAF1_uc001kht.1_Silent_p.T350T	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	912					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				CAACAAGGACGCCCTGTCCCA	0.403													A	93749219	G	A	93749219	2	1	191	1	0	0	0	0	0	0	0	1	1536	1074	38	1		1	BTAF1	10	93749219	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1114576	93749219	41785528	1082	104102											
CYP26A1	1592	broad.mit.edu	37	chr10	94836985	94836985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctaaatggacctcctaCaatgaaaaccagtcccaccg	6	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:94836985C>T	uc001kil.2	+	7	1463	c.1418C>T	c.(1417-1419)ACA>ATA	p.T473I	CYP26A1_uc001kik.1_Missense_Mutation_p.T404I|CYP26A1_uc001kim.1_Missense_Mutation_p.T371I	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	473					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GGACCTCCTACAATGAAAACC	0.448													T	94836985	C	T	94836985	3	4	191	1	0	0	0	0	1	0	0	0	4155	478	17	4	1444	4	CYP26A1	10	94836985	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1087766	94836985	40697762	1083	104103											
ZNF518A	9849	broad.mit.edu	37	chr10	97919393	97919393	+	Frame_Shift_Del	DEL	T	T	-													gcctgatggcaaacaagctgTttttttaaagtgtgtgatgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:97919392_97919392GT>G	uc001klp.3	+	5	4170	c.3313_3313GT>G	c.(3313-3315)gttfs	p.V1105fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.V575fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.V1105fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.V1105fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1105					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)		CAAACAAGCTGTTTTTTTAAA	0.363													-	97919393	T	-	97919393	7	5	191	1	0	1	0	1	0	0	0	0	17959	1725	60	0	3316	0	ZNF518A	10	97919393	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	3082408	97919393	37615354	1084	104104											
ZDHHC16	84287	broad.mit.edu	37	chr10	99211969	99211969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcatttcttctatagCcactggaatctgatcctgat	8	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:99211969C>T	uc001knj.2	+	4	715	c.366C>T	c.(364-366)AGC>AGT	p.S122S	ZDHHC16_uc001knp.2_Silent_p.S122S|ZDHHC16_uc001knk.2_Silent_p.S122S|ZDHHC16_uc001knl.2_Silent_p.S122S|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Silent_p.S122S|ZDHHC16_uc010qow.1_Silent_p.S122S|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Silent_p.S122S|ZDHHC16_uc009xvr.2_Silent_p.S122S	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	122	Helical; (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TCTTCTATAGCCACTGGAATC	0.562													T	99211969	C	T	99211969	2	4	191	1	0	0	0	0	0	0	0	1	17603	738	26	2		2	ZDHHC16	10	99211969	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1292576	99211969	36322778	1085	104105											
SLC25A28	81894	broad.mit.edu	37	chr10	101370949	101370949	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgggggttaaagtgcTcctgcaggaattcataggtc	13	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:101370949T>G	uc001kpx.2	-	4	881	c.752A>C	c.(751-753)GAG>GCG	p.E251A	SLC25A28_uc001kpy.2_Missense_Mutation_p.E64A	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	251	Solcar 2.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTTAAAGTGCTCCTGCAGGAA	0.567													G	101370949	T	G	101370949	3	3	191	1	0	0	0	0	1	0	0	0	14491	1551	54	5	346	5	SLC25A28	10	101370949	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2158980	101370949	34163798	1086	104106											
ENTPD7	57089	broad.mit.edu	37	chr10	101455831	101455831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcggaggcaactttgcccGgcagcgctacgaagaccttg	12	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:101455831G>A	uc001kqa.3	+	9	1140	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	ENTPD7_uc009xwl.2_Missense_Mutation_p.R323Q	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	321	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AACTTTGCCCGGCAGCGCTAC	0.453													A	101455831	G	A	101455831	3	1	191	1	0	0	0	0	1	0	0	0	5144	1116	39	1	992	1	ENTPD7	10	101455831	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	84882	101455831	34078916	1087	104107											
PKD2L1	9033	broad.mit.edu	37	chr10	102054754	102054754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccgaaaagcaggtagcCgagttgggcataggcgaaga	16	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:102054754C>T	uc001kqx.1	-	8	1866	c.1483G>A	c.(1483-1485)GGC>AGC	p.G495S	PKD2L1_uc009xwm.1_Missense_Mutation_p.G448S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	495	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCAGGTAGCCGAGTTGGGCA	0.562													T	102054754	C	T	102054754	3	4	191	1	0	0	0	0	1	0	0	0	11967	652	23	1	970	1	PKD2L1	10	102054754	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	598923	102054754	33479993	1088	104108											
LDB1	8861	broad.mit.edu	37	chr10	103870407	103870407	+	Frame_Shift_Del	DEL	C	C	-													catagtacagctccgtagcaCccccctcaaagatgctgcgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:103870407delC	uc009xwz.2	-	6	747	c.404delG	c.(403-405)GGTfs	p.G135fs	LDB1_uc001kuk.3_Frame_Shift_Del_p.G99fs|LDB1_uc001kul.3_Frame_Shift_Del_p.G99fs	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	135					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			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCGTAGCACCCCCCTCAAA	0.562													-	103870407	C	-	103870407	7	5	191	1	0	1	0	1	0	0	0	0	8695	507	18	0	855	0	LDB1	10	103870407	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1815653	103870407	31664340	1089	104109											
GBF1	8729	broad.mit.edu	37	chr10	104128078	104128078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccctgagggcatattcCtgcgtgtgcctactgccagc	10	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:104128078C>T	uc001kux.1	+	22	2983	c.2743C>T	c.(2743-2745)CTG>TTG	p.L915L	GBF1_uc001kuy.1_Silent_p.L915L|GBF1_uc001kuz.1_Silent_p.L916L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	915					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGGCATATTCCTGCGTGTGCC	0.517													T	104128078	C	T	104128078	2	4	191	1	0	0	0	0	0	0	0	1	6271	680	24	4		4	GBF1	10	104128078	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	257671	104128078	31406669	1090	104110											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362048	105362048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgactggggcctgaccGccacctgccgcactccgttc	10	19	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:105362048G>A	uc001kxj.1	-	14	2983	c.2843C>T	c.(2842-2844)GCG>GTG	p.A948V	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.A825V|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.A891V	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	976					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		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)		GGGCCTGACCGCCACCTGCCG	0.652													A	105362048	G	A	105362048	3	1	191	1	0	0	0	0	1	0	0	0	14256	1087	38	1	478	1	SH3PXD2A	10	105362048	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1233970	105362048	30172699	1091	104111											
ITPRIP	85450	broad.mit.edu	37	chr10	106074825	106074825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcagggaccccgggctgtCcagctggccaaaggccaggt	14	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:106074825C>T	uc001kye.2	-	2	1058	c.985G>A	c.(985-987)GAC>AAC	p.D329N	ITPRIP_uc001kyf.2_Missense_Mutation_p.D329N|ITPRIP_uc001kyg.2_Missense_Mutation_p.D329N	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	329						plasma membrane					0						CCCGGGCTGTCCAGCTGGCCA	0.567													T	106074825	C	T	106074825	3	4	191	1	0	0	0	0	1	0	0	0	7923	855	30	4	662	4	ITPRIP	10	106074825	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	712777	106074825	29459922	1092	104112											
SORCS1	114815	broad.mit.edu	37	chr10	108448006	108448006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccggcgcctgcagcaaacGccagtctctgcctttgttat	10	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:108448006G>A	uc001kym.2	-	10	1512	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C	SORCS1_uc001kyl.2_Missense_Mutation_p.R502C|SORCS1_uc009xxs.2_Missense_Mutation_p.R502C|SORCS1_uc001kyn.1_Missense_Mutation_p.R502C|SORCS1_uc001kyo.2_Missense_Mutation_p.R502C	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	502	Lumenal (Potential).|BNR 3.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGCAGCAAACGCCAGTCTCTG	0.498													A	108448006	G	A	108448006	3	1	191	1	0	0	0	0	1	0	0	0	14930	1087	38	1	2304	1	SORCS1	10	108448006	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2373181	108448006	27086741	1093	104113											
TCF7L2	6934	broad.mit.edu	37	chr10	114911564	114911564	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgcattcatgttgtataTgaaggaaatgagagcaaagg	11	3	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:114911564T>G	uc001lae.3	+	10	1589	c.1082T>G	c.(1081-1083)ATG>AGG	p.M361R	TCF7L2_uc001lac.3_Missense_Mutation_p.M338R|TCF7L2_uc010qrk.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrl.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrm.1_Missense_Mutation_p.M361R|TCF7L2_uc010qrn.1_Missense_Mutation_p.M304R|TCF7L2_uc001lad.3_Missense_Mutation_p.M334R|TCF7L2_uc001lag.3_Missense_Mutation_p.M385R|TCF7L2_uc001laf.3_Missense_Mutation_p.M338R|TCF7L2_uc010qro.1_Missense_Mutation_p.M338R|TCF7L2_uc001lah.2_Missense_Mutation_p.M343R|TCF7L2_uc010qrp.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrq.1_Missense_Mutation_p.M334R|TCF7L2_uc010qrr.1_Missense_Mutation_p.M276R|TCF7L2_uc010qrs.1_Missense_Mutation_p.M232R|TCF7L2_uc010qrt.1_Missense_Mutation_p.M232R|TCF7L2_uc010qru.1_Missense_Mutation_p.M260R|TCF7L2_uc010qrv.1_Missense_Mutation_p.M178R|TCF7L2_uc010qrw.1_Missense_Mutation_p.M65R|TCF7L2_uc010qrx.1_Missense_Mutation_p.M218R	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	361	Mediates interaction with MAD2L2.|HMG box.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATGTTGTATATGAAGGAAATG	0.463													G	114911564	T	G	114911564	3	3	191	1	0	0	0	0	1	0	0	0	15695	1464	51	5	1265	5	TCF7L2	10	114911564	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	6463558	114911564	20623183	1094	104114											
TDRD1	56165	broad.mit.edu	37	chr10	115987018	115987018	+	Frame_Shift_Del	DEL	A	A	-													ctagtgacatttggtctggcAaaaaacatcacacctcaaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:115987017_115987017CA>C	uc001lbg.1	+	22	3515	c.3362_3362CA>C	c.(3361-3363)gcafs	p.A1121fs	TDRD1_uc001lbf.3_Frame_Shift_Del_p.A998fs|TDRD1_uc001lbh.1_Frame_Shift_Del_p.A1108fs|TDRD1_uc001lbi.1_Frame_Shift_Del_p.A1112fs|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Frame_Shift_Del_p.A830fs	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1121					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)		TTTGGTCTGGCAAAAAACATC	0.363													-	115987018	A	-	115987018	7	5	191	1	0	1	0	1	0	0	0	0	15727	117	5	0	3449	0	TDRD1	10	115987018	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1075454	115987018	19547729	1095	104115											
TDRD1	56165	broad.mit.edu	37	chr10	115987869	115987869	+	Frame_Shift_Del	DEL	A	A	-													aaaataaatttattgaaatgAaaaaactgttaaaaagttaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:115987868_115987868GA>G	uc001lbg.1	+	24	3675	c.3522_3522GA>G	c.(3520-3522)atgfs	p.M1174fs	TDRD1_uc001lbf.3_Frame_Shift_Del_p.M1051fs|TDRD1_uc001lbh.1_Frame_Shift_Del_p.M1161fs|TDRD1_uc001lbi.1_Frame_Shift_Del_p.M1165fs|TDRD1_uc010qsc.2_Frame_Shift_Del_p.M702fs|TDRD1_uc001lbj.3_Frame_Shift_Del_p.M883fs	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1174					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)		TTATTGAAATGAAAAAACTGT	0.313													-	115987869	A	-	115987869	7	5	191	1	0	1	0	1	0	0	0	0	15727	247	9	0	3617	0	TDRD1	10	115987869	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	851	115987869	19546878	1096	104116											
FAM160B1	57700	broad.mit.edu	37	chr10	116602749	116602749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtaatttcagaagatacaTtaaaaggtcaggattccttg	8	5	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:116602749T>C	uc001lcb.2	+	6	915	c.580T>C	c.(580-582)TTA>CTA	p.L194L	FAM160B1_uc001lcc.2_Silent_p.L194L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	194										lung(1)	1						AGAAGATACATTAAAAGGTCA	0.358													C	116602749	T	C	116602749	2	2	191	1	0	0	0	0	0	0	0	1	5470	1490	52	3		3	FAM160B1	10	116602749	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	614880	116602749	18931998	1097	104117											
FAM160B1	57700	broad.mit.edu	37	chr10	116606441	116606441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatataaacctttgtgcCcagaagataaagatgtggta	9	6	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:116606441C>T	uc001lcb.2	+	11	1857	c.1522C>T	c.(1522-1524)CCA>TCA	p.P508S	FAM160B1_uc001lcc.2_Missense_Mutation_p.P508S	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	508										lung(1)	1						ACCTTTGTGCCCAGAAGATAA	0.353													T	116606441	C	T	116606441	3	4	191	1	0	0	0	0	1	0	0	0	5470	623	22	4	1564	4	FAM160B1	10	116606441	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3692	116606441	18928306	1098	104118											
GFRA1	2674	broad.mit.edu	37	chr10	117849274	117849274	+	Frame_Shift_Del	DEL	A	A	-													gtaaatttgcacacggtggcAaaacatgagtgggaatttca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:117849273_117849273CA>C	uc001lcj.3	-	8	1874	c.1176_1176TG>G	c.(1174-1176)ttgfs	p.L392fs	GFRA1_uc001lci.3_Frame_Shift_Del_p.L387fs|GFRA1_uc009xyr.3_Frame_Shift_Del_p.L387fs	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	392					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)		CACACGGTGGCAAAACATGAG	0.557													-	117849274	A	-	117849274	7	5	191	1	0	1	0	1	0	0	0	0	6347	131	5	0	234	0	GFRA1	10	117849274	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1242833	117849274	17685473	1099	104119											
HSPA12A	259217	broad.mit.edu	37	chr10	118441370	118441370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccgactctgccgattaCgccgtatgtgttccttagct	10	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:118441370C>T	uc001lct.2	-	8	959	c.854G>A	c.(853-855)CGT>CAT	p.R285H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R202H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	285							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CTGCCGATTACGCCGTATGTG	0.473											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118441370	C	T	118441370	3	4	191	1	0	0	0	0	1	0	0	0	7404	536	19	1	1193	1	HSPA12A	10	118441370	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	592096	118441370	17093377	1100	104120											
PDZD8	118987	broad.mit.edu	37	chr10	119042787	119042787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagacctgtctgctacacagActcggatgggccaaataagt	10	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:119042787A>G	uc001lde.1	-	5	3656	c.3457T>C	c.(3457-3459)TCT>CCT	p.S1153P		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1153					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TGCTACACAGACTCGGATGGG	0.398													G	119042787	A	G	119042787	3	3	191	1	0	0	0	0	1	0	0	0	11705	275	10	3	11	3	PDZD8	10	119042787	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	601417	119042787	16491960	1101	104121											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798647	119798647	+	Frame_Shift_Del	DEL	T	T	-													ttatcagatcttctgctatcTttttttccagtcactctttc					rs35192242		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:119798646_119798646CT>C	uc001ldj.2	-	2	1542	c.1102_1102AG>G	c.(1102-1104)gatfs	p.D368fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.D368fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	368					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)		CTTCTGCTATCTTTTTTTCCA	0.338													-	119798647	T	-	119798647	7	5	191	1	0	1	0	1	0	0	0	0	12894	1606	56	0	449	0	RAB11FIP2	10	119798647	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	755860	119798647	15736100	1102	104122											
PRLHR	2834	broad.mit.edu	37	chr10	120354444	120354444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcacatgagcacgtcggAcaaggccaggttgccgatga	15	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:120354444A>G	uc001ldp.1	-	2	452	c.313T>C	c.(313-315)TCC>CCC	p.S105P		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	105	Helical; Name=2; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGCACGTCGGACAAGGCCAGG	0.682													G	120354444	A	G	120354444	3	3	191	1	0	0	0	0	1	0	0	0	12530	275	10	3	803	3	PRLHR	10	120354444	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	555797	120354444	15180303	1103	104123											
INPP5F	22876	broad.mit.edu	37	chr10	121586928	121586928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagacaccttctcggccatCgcaattagatgtctctcttt	6	13	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:121586928C>T	uc001leo.2	+	20	3201	c.3035C>T	c.(3034-3036)TCG>TTG	p.S1012L	INPP5F_uc001lep.2_Missense_Mutation_p.S402L	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1012							phosphoric ester hydrolase activity	p.S1012S(1)		ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCTCGGCCATCGCAATTAGAT	0.463													T	121586928	C	T	121586928	3	4	191	1	0	0	0	0	1	0	0	0	7758	893	31	1	3113	1	INPP5F	10	121586928	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1232484	121586928	13947819	1104	104124											
INPP5F	22876	broad.mit.edu	37	chr10	121587003	121587003	+	Frame_Shift_Del	DEL	A	A	-													agcgcattcagttgcatctcAaaaaacccccacctccgctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:121587002_121587002CA>C	uc001leo.3	+	19	3325	c.3109_3109CA>C	c.(3109-3111)caafs	p.Q1037fs	INPP5F_uc001lep.3_Frame_Shift_Del_p.Q427fs	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	1037							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)		AGTTGCATCTCAAAAAACCCC	0.502													-	121587003	A	-	121587003	7	5	191	1	0	1	0	1	0	0	0	0	7758	130	5	0	3188	0	INPP5F	10	121587003	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	75	121587003	13947744	1105	104125											
TACC2	10579	broad.mit.edu	37	chr10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-													caccaagaaacccacagagaCccccccagtgaaggagacgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:123970379_123970379AC>A	uc001lfv.3	+	8	6799	c.6439_6439AC>A	c.(6439-6441)accfs	p.T2147fs	TACC2_uc001lfw.3_Frame_Shift_Del_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Del_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Del_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Del_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.T242fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2147						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)				ACCCACAGAGACCCCCCCAGT	0.517													-	123970380	C	-	123970380	7	5	191	1	0	1	0	1	0	0	0	0	15499	507	18	0	6542	0	TACC2	10	123970380	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	2383377	123970380	11564367	1106	104126											
BTBD16	118663	broad.mit.edu	37	chr10	124066813	124066813	+	Frame_Shift_Del	DEL	T	T	-													cttatgaaaccgtgatgacaTtttttaagaggtaatataac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:124066812_124066812AT>A	uc001lgc.1	+	9	1151	c.900_900AT>A	c.(898-900)acafs	p.T300fs	BTBD16_uc001lgd.1_Frame_Shift_Del_p.T299fs	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	300										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)				CCGTGATGACATTTTTTAAGA	0.358													-	124066813	T	-	124066813	7	5	191	1	0	1	0	1	0	0	0	0	1541	1493	52	0	935	0	BTBD16	10	124066813	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	96433	124066813	11467934	1107	104127											
DMBT1	1755	broad.mit.edu	37	chr10	124331836	124331836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaccctgcaggttctcCgatttccttggagtcaaccc	7	16	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:124331836C>T	uc001lgk.1	+	5	300	c.194C>T	c.(193-195)CCG>CTG	p.P65L	DMBT1_uc001lgl.1_Missense_Mutation_p.P65L|DMBT1_uc001lgm.1_Missense_Mutation_p.P65L|DMBT1_uc009xzz.1_Missense_Mutation_p.P65L|DMBT1_uc010qtx.1_Missense_Mutation_p.P65L|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	65			P -> L.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGGTTCTCCGATTTCCTTG	0.522													T	124331836	C	T	124331836	3	4	191	1	0	0	0	0	1	0	0	0	4577	652	23	1	212	1	DMBT1	10	124331836	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	265023	124331836	11202911	1108	104128											
DOCK1	1793	broad.mit.edu	37	chr10	129160405	129160405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattcccgagacggagctgCgcaaagccaccatccccatc	8	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:129160405C>T	uc001ljt.2	+	33	3362	c.3298C>T	c.(3298-3300)CGC>TGC	p.R1100C	DOCK1_uc010qun.1_Missense_Mutation_p.R1121C|DOCK1_uc009yaq.2_Missense_Mutation_p.R95C	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1100					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			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		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)		GACGGAGCTGCGCAAAGCCAC	0.448													T	129160405	C	T	129160405	3	4	191	1	0	0	0	0	1	0	0	0	4684	768	27	1	3428	1	DOCK1	10	129160405	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4828569	129160405	6374342	1109	104129											
PPP2R2D	55844	broad.mit.edu	37	chr10	133769302	133769302	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgcgcgccagcctcaaAccccggaaggtgtgtacggg	13	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:133769302A>C	uc001lks.2	+	7	1341	c.1098A>C	c.(1096-1098)AAA>AAC	p.K366N	PPP2R2D_uc001lkr.2_Missense_Mutation_p.K172N|PPP2R2D_uc001lkt.2_Missense_Mutation_p.K172N|PPP2R2D_uc009yay.2_Missense_Mutation_p.K234N	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	399					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCAGCCTCAAACCCCGGAAGG	0.572													C	133769302	A	C	133769302	3	2	191	1	0	0	0	0	1	0	0	0	12387	40	2	5	1125	5	PPP2R2D	10	133769302	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	4608897	133769302	1765445	1110	104130											
IRF7	3665	broad.mit.edu	37	chr11	613969	613969	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcgttagtgccgcggGctggggcccggggctggggg	21	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:613969G>C	uc001lqh.2	-	7	1118	c.748C>G	c.(748-750)CCC>GCC	p.P250A	IRF7_uc009ycb.2_Missense_Mutation_p.P144A|IRF7_uc010qwf.1_Missense_Mutation_p.P249A|IRF7_uc001lqf.2_5'UTR|IRF7_uc010qwg.1_5'UTR|IRF7_uc001lqg.2_Missense_Mutation_p.P263A|IRF7_uc001lqi.2_Intron|IRF7_uc010qwh.1_5'UTR	NM_001572	NP_001563	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform a	250					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				0		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)		AGTGCCGCGGGCTGGGGCCCG	0.687													C	613969	G	C	613969	3	2	191	1	0	0	0	0	1	0	0	0	7835	1203	42	5	783	5	IRF7	11	613969	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08		613969	134392547	1111	104131											
MUC6	4588	broad.mit.edu	37	chr11	1024987	1024988	+	Frame_Shift_Del	DEL	CC	CC	-													gctctccttccacgagttcaCcaactccagctcgctggatg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1024987_1024988delCC	uc001lsw.2	-	24	3132_3133	c.3081_3082delGG	c.(3079-3084)TTGGTGfs	p.L1027fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1027_1028	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		CACGAGTTCACCAACTCCAGCT	0.624													-	1024988	CC	-	1024987	7	5	191	1	0	1	0	1	0	0	0	0	9980	507	18	0	4277	0	MUC6	11	1024987	Frame_Shift_Del	DEL	CC	TCGA-CG-5723-01A-11D-1600-08	411018	1024987	133981529	1112	104132											
MUC5B	727897	broad.mit.edu	37	chr11	1263618	1263618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgggcggagaactacccCgaggtaagcatcgaccaggt	14	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1263618C>T	uc009ycr.1	+	47	7713	c.7587C>T	c.(7585-7587)CCC>CCT	p.P2529P	MUC5B_uc001ltb.2_Silent_p.P1839P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1836	7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		AGAACTACCCCGAGGTAAGCA	0.587													T	1263618	C	T	1263618	2	4	191	1	0	0	0	0	0	0	0	1	9979	639	23	1		1	MUC5B	11	1263618	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	238631	1263618	133742898	1113	104133											
MUC5B	727897	broad.mit.edu	37	chr11	1272678	1272678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgagcactatagccacCgtgatggtgcccaccggttc	12	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1272678C>T	uc009ycr.1	+	52	15660	c.15534C>T	c.(15532-15534)ACC>ACT	p.T5178T	MUC5B_uc001ltb.2_Silent_p.T4859T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4856	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CTATAGCCACCGTGATGGTGC	0.632													T	1272678	C	T	1272678	2	4	191	1	0	0	0	0	0	0	0	1	9979	639	23	1		1	MUC5B	11	1272678	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	9060	1272678	133733838	1114	104134											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651725	1651726	+	Frame_Shift_Ins	INS	-	-	A													ctgccaatccagctgctacaINSagccctgctgctgccagtcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1651724_1651725C>CA	uc001lty.3	+	0	692_693	c.654_655C>CA	c.(652-657)tacaagfs	p.Y218fs	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	218	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		CCAGCTGCTACAAGCCCTGCTG	0.594													A	1651726	-	A	1651725	7	5	191	1	0	1	1	0	0	0	0	0	8564	131	5	0	657	0	KRTAP5-5	11	1651725	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	379047	1651725	133354791	1115	104135											
NUP98	4928	broad.mit.edu	37	chr11	3712640	3712640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtctgtgagttttgcTcctccgctatcacacagcca	10	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:3712640T>G	uc001lyh.2	-	28	4682	c.4391A>C	c.(4390-4392)GAG>GCG	p.E1464A	NUP98_uc001lyi.2_Missense_Mutation_p.E1464A|NUP98_uc001lyg.2_Missense_Mutation_p.E429A	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1481					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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		TGAGTTTTGCTCCTCCGCTAT	0.453			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								G	3712640	T	G	3712640	3	3	191	1	0	0	0	0	1	0	0	0	10773	1551	54	5	1035	5	NUP98	11	3712640	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2060915	3712640	131293876	1116	104136											
NUP98	4928	broad.mit.edu	37	chr11	3733808	3733808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacctgaggtggaggtgCaggtttgccattaagagcca	13	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:3733808C>T	uc001lyh.2	-	20	3019	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T	NUP98_uc001lyi.2_Missense_Mutation_p.A910T|NUP98_uc001lyj.1_Missense_Mutation_p.A910T|NUP98_uc001lyk.1_Missense_Mutation_p.A927T	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	927					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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		GGTGGAGGTGCAGGTTTGCCA	0.448			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3733808	C	T	3733808	3	4	191	1	0	0	0	0	1	0	0	0	10773	710	25	2	2751	2	NUP98	11	3733808	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	21168	3733808	131272708	1117	104137											
OR52K1	390036	broad.mit.edu	37	chr11	4510535	4510535	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaagccattgcactacacGacggtcctgactgggtccct	10	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:4510535G>A	uc001lza.1	+	1	405	c.405G>A	c.(403-405)ACG>ACA	p.T135T		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		TGCACTACACGACGGTCCTGA	0.567													A	4510535	G	A	4510535	2	1	191	1	0	0	0	0	0	0	0	1	11123	1045	37	1		1	OR52K1	11	4510535	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	776727	4510535	130495981	1118	104138											
HBE1	3046	broad.mit.edu	37	chr11	5290793	5290793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcatctccaaaggaagtcAgcaccttcttgccatgggcc	9	13	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:5290793A>G	uc001mal.1	-	2	459	c.206T>C	c.(205-207)CTG>CCG	p.L69P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.L69P	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	69					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGAAGTCAGCACCTTCTT	0.522													G	5290793	A	G	5290793	3	3	191	1	0	0	0	0	1	0	0	0	6980	188	7	3	245	3	HBE1	11	5290793	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	780258	5290793	129715723	1119	104139											
OR51I2	390064	broad.mit.edu	37	chr11	5474944	5474944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtggccatatccatgGccacactgcccactgtactc	9	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:5474944G>A	uc010qzf.1	+	1	226	c.226G>A	c.(226-228)GCC>ACC	p.A76T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	76	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		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)		CATATCCATGGCCACACTGCC	0.502													A	5474944	G	A	5474944	3	1	191	1	0	0	0	0	1	0	0	0	11101	1203	42	2	228	2	OR51I2	11	5474944	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	184151	5474944	129531572	1120	104140											
OR56B4	196335	broad.mit.edu	37	chr11	6129484	6129484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcatgctcaggaatgGcctgttgaccatcccagtgc	10	12	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:6129484G>A	uc010qzx.1	+	1	476	c.476G>A	c.(475-477)GGC>GAC	p.G159D		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		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)		CTCAGGAATGGCCTGTTGACC	0.502													A	6129484	G	A	6129484	3	1	191	1	0	0	0	0	1	0	0	0	11138	1203	42	2	478	2	OR56B4	11	6129484	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	654540	6129484	128877032	1121	104141											
OR2AG2	338755	broad.mit.edu	37	chr11	6789985	6789986	+	Frame_Shift_Del	DEL	GA	GA	-													gatgtgaacaggaggtccatGagagagagctgcccaagcag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:6789984_6789985TGA>T	uc001meq.1	-	0	204_205	c.204_205TCA>A	c.(202-207)ctcatgfs	p.L68fs		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	68					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)		AGGAGGTCCATGAGAGAGAGCT	0.545													-	6789986	GA	-	6789985	7	5	191	1	0	1	0	1	0	0	0	0	10985	1277	45	0	750	0	OR2AG2	11	6789985	Frame_Shift_Del	DEL	GA	TCGA-CG-5723-01A-11D-1600-08	660501	6789985	128216531	1122	104142											
OR2D2	120776	broad.mit.edu	37	chr11	6913632	6913632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacagtgaccaggtagaCacccaataatacgataaata	7	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:6913632C>T	uc010rau.1	-	1	100	c.100G>A	c.(100-102)GTC>ATC	p.V34I		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACCAGGTAGACACCCAATAAT	0.443													T	6913632	C	T	6913632	3	4	191	1	0	0	0	0	1	0	0	0	10994	478	17	4	829	4	OR2D2	11	6913632	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	123647	6913632	128092884	1123	104143											
RBMXL2	27288	broad.mit.edu	37	chr11	7111248	7111248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccaggacgggggacaccGccatcttacggaggaggagg	17	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:7111248G>A	uc001mfc.2	+	1	1084	c.897G>A	c.(895-897)CCG>CCA	p.P299P		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGACACCGCCATCTTACG	0.662													A	7111248	G	A	7111248	2	1	191	1	0	0	0	0	0	0	0	1	13154	1074	38	1		1	RBMXL2	11	7111248	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	197616	7111248	127895268	1124	104144											
STK33	65975	broad.mit.edu	37	chr11	8496262	8496262	+	Frame_Shift_Del	DEL	T	T	-													aggttatatctctgttgataTttttttctttttttctctcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:8496261_8496261AT>A	uc001mgi.1	-	0	1111	c.192_192AT>T	c.(190-192)aatfs	p.N64fs	STK33_uc001mgj.1_Frame_Shift_Del_p.N64fs|STK33_uc001mgk.1_Frame_Shift_Del_p.N64fs|STK33_uc010rbn.1_Frame_Shift_Del_p.N23fs|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	64						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)		CTCTGTTGATATTTTTTTCTT	0.378													-	8496262	T	-	8496262	7	5	191	1	0	1	0	1	0	0	0	0	15299	1493	52	0	1401	0	STK33	11	8496262	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1385014	8496262	126510254	1125	104145											
C11orf16	56673	broad.mit.edu	37	chr11	8947037	8947037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggcatggctcaggccCgtttctcttccaatacctcc	7	17	2	0	rs143892206	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:8947037C>T	uc001mhb.3	-	5	1301	c.1177G>A	c.(1177-1179)GGG>AGG	p.G393R	C11orf16_uc001mhc.3_Missense_Mutation_p.G393R	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	393										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGCTCAGGCCCGTTTCTCTTC	0.587													T	8947037	C	T	8947037	3	4	191	1	0	0	0	0	1	0	0	0	1631	652	23	1	234	1	C11orf16	11	8947037	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	450775	8947037	126059479	1126	104146											
TMEM9B	56674	broad.mit.edu	37	chr11	8969887	8969887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgaggacaacatgccGgtcaaagacagactttcgct	10	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:8969887G>A	uc001mhe.1	-	5	706	c.577C>T	c.(577-579)CGG>TGG	p.R193W	TMEM9B_uc001mhf.1_Missense_Mutation_p.R119W|TMEM9B_uc010rbt.1_Missense_Mutation_p.R119W	NM_020644	NP_065695	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B precursor	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity				0				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		ACAACATGCCGGTCAAAGACA	0.493													A	8969887	G	A	8969887	3	1	191	1	0	0	0	0	1	0	0	0	16224	1115	39	1	23	1	TMEM9B	11	8969887	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	22850	8969887	126036629	1127	104147											
SCUBE2	57758	broad.mit.edu	37	chr11	9069032	9069032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaactgctccctgtggaCggcctttctgagcgtgcgga	14	11	1	2	rs72550810	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:9069032C>T	uc001mhh.1	-	15	1866	c.1786G>A	c.(1786-1788)GTC>ATC	p.V596I	SCUBE2_uc001mhi.1_Missense_Mutation_p.V625I|SCUBE2_uc001mhj.1_Missense_Mutation_p.V470I	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	596						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCCCTGTGGACGGCCTTTCTG	0.557													T	9069032	C	T	9069032	3	4	191	1	0	0	0	0	1	0	0	0	13945	536	19	1	1245	1	SCUBE2	11	9069032	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	99145	9069032	125937484	1128	104148											
ZNF143	7702	broad.mit.edu	37	chr11	9501082	9501082	+	Frame_Shift_Del	DEL	A	A	-													ttggagaaaatgagcaagagAaaaaaatgcaggtatgtaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:9501081_9501081GA>G	uc001mhr.3	+	6	752	c.633_633GA>G	c.(631-633)gagfs	p.E211fs	ZNF143_uc009yfu.3_Frame_Shift_Del_p.E210fs|ZNF143_uc010rby.2_Frame_Shift_Del_p.E180fs|DM376721_uc021qdo.1_5'Flank	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	211					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	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ATGAGCAAGAGAAAAAAATGC	0.333													-	9501082	A	-	9501082	7	5	191	1	0	1	0	1	0	0	0	0	17729	247	9	0	656	0	ZNF143	11	9501082	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	432050	9501082	125505434	1129	104149											
ARNTL	406	broad.mit.edu	37	chr11	13393835	13393835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaacctcagctgcctcgtcGcaattggacgactgcattct	9	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:13393835G>A	uc001mkr.2	+	13	1354	c.946G>A	c.(946-948)GCA>ACA	p.A316T	ARNTL_uc001mko.2_Missense_Mutation_p.A272T|ARNTL_uc001mkp.2_Missense_Mutation_p.A315T|ARNTL_uc001mkq.2_Missense_Mutation_p.A315T|ARNTL_uc001mks.2_Missense_Mutation_p.A273T|ARNTL_uc001mkt.2_Missense_Mutation_p.A316T|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Missense_Mutation_p.A273T|ARNTL_uc001mkw.2_Missense_Mutation_p.A273T|ARNTL_uc001mkx.2_Missense_Mutation_p.A314T	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	316					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				0				Epithelial(150;0.0243)		CTGCCTCGTCGCAATTGGACG	0.498													A	13393835	G	A	13393835	3	1	191	1	0	0	0	0	1	0	0	0	967	1087	38	1	992	1	ARNTL	11	13393835	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3892753	13393835	121612681	1130	104150											
COPB1	1315	broad.mit.edu	37	chr11	14510133	14510133	+	Splice_Site	DEL	A	A	-													gtaatccaaagctcgatcctAaaaaaaataagaatatattt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					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|ER-Golgi intermediate compartment|cytosol|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						AGCTCGATCCTAAAAAAAATA	0.294													-	14510133	A	-	14510133	8	5	191	1	0	1	0	1	0	0	1	0	3728	377	13	0		0	COPB1	11	14510133	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1116298	14510133	120496383	1131	104151											
CALCA	796	broad.mit.edu	37	chr11	14991489	14991490	+	Frame_Shift_Ins	INS	-	-	CT													gggagcctcacctggagcccINStctctctcttgctcctgctc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:14991488_14991489C>CCT	uc001mlv.1	-	2	270_271	c.219_220G>AGG	c.(217-222)gagggcfs	p.E73fs	CALCA_uc001mlt.2_Frame_Shift_Ins_p.E73fs|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Frame_Shift_Ins_p.E73fs	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	73					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)	CACCTGGAGCCCTCTCTCTCTT	0.624											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CT	14991490	-	CT	14991489	7	5	191	1	0	1	1	0	0	0	0	0	2575	680	24	0	378	0	CALCA	11	14991489	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	481356	14991489	120015027	1132	104152											
ABCC8	6833	broad.mit.edu	37	chr11	17428178	17428178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacgggtacctcatggggGctaggatgatccggtttagc	16	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:17428178G>A	uc001mnc.2	-	26	3446	c.3320C>T	c.(3319-3321)GCC>GTC	p.A1107V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1107	Cytoplasmic (By similarity).|ABC transmembrane type-1 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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCATGGGGGCTAGGATGAT	0.413													A	17428178	G	A	17428178	3	1	191	1	0	0	0	0	1	0	0	0	58	1203	42	2	1481	2	ABCC8	11	17428178	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2436689	17428178	117578338	1133	104153											
ABCC8	6833	broad.mit.edu	37	chr11	17491700	17491700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtgatagtagaccacGgaggtgacagcagccatgaa	13	7	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:17491700G>A	uc001mnc.2	-	3	486	c.360C>T	c.(358-360)TCC>TCT	p.S120S	ABCC8_uc010rcy.1_Silent_p.S120S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	120	Helical; Name=3; (By similarity).				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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGTAGACCACGGAGGTGACAG	0.517													A	17491700	G	A	17491700	2	1	191	1	0	0	0	0	0	0	0	1	58	1103	39	1		1	ABCC8	11	17491700	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	63522	17491700	117514816	1134	104154											
MYOD1	4654	broad.mit.edu	37	chr11	17741819	17741819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagggcctgcaggctctgCtgcgcgaccaggacgccgcg	16	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:17741819C>T	uc001mni.2	+	1	710	c.490C>T	c.(490-492)CTG>TTG	p.L164L		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	164					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						GCAGGCTCTGCTGCGCGACCA	0.547													T	17741819	C	T	17741819	2	4	191	1	0	0	0	0	0	0	0	1	10088	796	28	2		2	MYOD1	11	17741819	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	250119	17741819	117264697	1135	104155											
SAA4	6291	broad.mit.edu	37	chr11	18253142	18253142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgttggacttcgagtcCtccaatacagtgctgctgtt	9	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:18253142C>T	uc001mny.2	-	4	396	c.300G>A	c.(298-300)GAG>GAA	p.E100E		NM_006512	NP_006503	P35542	SAA4_HUMAN	serum amyloid A4, constitutive precursor	100					acute-phase response	high-density lipoprotein particle					0						ACTTCGAGTCCTCCAATACAG	0.502													T	18253142	C	T	18253142	2	4	191	1	0	0	0	0	0	0	0	1	13800	680	24	4		4	SAA4	11	18253142	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	511323	18253142	116753374	1136	104156											
UEVLD	55293	broad.mit.edu	37	chr11	18587900	18587900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatatacaaaccttcagTgatttttgcaatataggcta	5	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:18587900T>C	uc001mot.2	-	5	567	c.487A>G	c.(487-489)ACT>GCT	p.T163A	UEVLD_uc001mou.2_Missense_Mutation_p.T163A|UEVLD_uc010rde.1_Missense_Mutation_p.T33A|UEVLD_uc010rdf.1_Missense_Mutation_p.T141A|UEVLD_uc010rdg.1_Missense_Mutation_p.T33A|UEVLD_uc001mov.2_Missense_Mutation_p.T141A|UEVLD_uc010rdh.1_Missense_Mutation_p.T163A	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	163					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				0						AAACCTTCAGTGATTTTTGCA	0.368													C	18587900	T	C	18587900	3	2	191	1	0	0	0	0	1	0	0	0	16930	1696	59	3	960	3	UEVLD	11	18587900	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	334758	18587900	116418616	1137	104157											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637173	18637173	+	Frame_Shift_Del	DEL	T	T	-													agttttccatctgtctcaagTttttttctcctatgctttcg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:18637172_18637172GT>G	uc001moy.3	-	2	865	c.649_649AC>C	c.(649-651)cttfs	p.L217fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.L217fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	217								p.K216fs*254(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TCTGTCTCAAGTTTTTTTCTC	0.443													-	18637173	T	-	18637173	7	5	191	1	0	1	0	1	0	0	0	0	15125	1722	60	0	1425	0	SPTY2D1	11	18637173	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	49273	18637173	116369343	1138	104158											
ANO3	63982	broad.mit.edu	37	chr11	26556078	26556078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatcacatgctggaacgCaccaaatatgaaaatggaat	8	8	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:26556078C>T	uc001mqt.3	+	9	1090	c.945C>T	c.(943-945)CGC>CGT	p.R315R	ANO3_uc010rdr.1_Silent_p.R299R|ANO3_uc010rds.1_Silent_p.R154R|ANO3_uc010rdt.1_Silent_p.R169R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	315	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGCTGGAACGCACCAAATATG	0.323													T	26556078	C	T	26556078	2	4	191	1	0	0	0	0	0	0	0	1	698	697	25	2		2	ANO3	11	26556078	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7918905	26556078	108450438	1139	104159											
METT5D1	196074	broad.mit.edu	37	chr11	28134963	28134963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcatacctaatttaggtGtctggccaaacagaatacat	8	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:28134963G>A	uc001msh.2	+	3	537	c.82G>A	c.(82-84)GTC>ATC	p.V28I	METT5D1_uc001msg.2_Missense_Mutation_p.V28I|METT5D1_uc001mse.2_Missense_Mutation_p.V28I|METT5D1_uc001msf.1_RNA	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	28							methyltransferase activity				0						TAATTTAGGTGTCTGGCCAAA	0.378													A	28134963	G	A	28134963	3	1	191	1	0	0	0	0	1	0	0	0	9492	1377	48	4	84	4	METT5D1	11	28134963	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1578885	28134963	106871553	1140	104160											
TCP11L1	55346	broad.mit.edu	37	chr11	33087459	33087459	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgggggctgtgttgctggtCaccttcagcatggcagcgcc	15	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:33087459C>T	uc001mud.2	+	8	1456	c.1056C>T	c.(1054-1056)GTC>GTT	p.V352V	TCP11L1_uc009yju.2_Silent_p.V167V|TCP11L1_uc010rei.1_Silent_p.V352V|TCP11L1_uc001mue.2_Silent_p.V352V|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	352											0						TGTTGCTGGTCACCTTCAGCA	0.498											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33087459	C	T	33087459	2	4	191	1	0	0	0	0	0	0	0	1	15711	813	29	4		4	TCP11L1	11	33087459	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4952496	33087459	101919057	1141	104161											
HIPK3	10114	broad.mit.edu	37	chr11	33308232	33308232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaaaacactgcaggtgCtacaaaggtcatagcagctc	9	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:33308232C>T	uc001mul.1	+	2	542	c.272C>T	c.(271-273)GCT>GTT	p.A91V	HIPK3_uc001mum.1_Missense_Mutation_p.A91V|HIPK3_uc009yjv.1_Missense_Mutation_p.A91V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	91					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						ACTGCAGGTGCTACAAAGGTC	0.483													T	33308232	C	T	33308232	3	4	191	1	0	0	0	0	1	0	0	0	7118	797	28	2	274	2	HIPK3	11	33308232	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	220773	33308232	101698284	1142	104162											
HIPK3	10114	broad.mit.edu	37	chr11	33308858	33308858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgccactaaaagtgattCggcccattcttcaacaagtg	7	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:33308858C>T	uc001mul.1	+	2	1168	c.898C>T	c.(898-900)CGG>TGG	p.R300W	HIPK3_uc001mum.1_Missense_Mutation_p.R300W|HIPK3_uc009yjv.1_Missense_Mutation_p.R300W	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	300	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						AAAAGTGATTCGGCCCATTCT	0.388													T	33308858	C	T	33308858	3	4	191	1	0	0	0	0	1	0	0	0	7118	875	31	1	900	1	HIPK3	11	33308858	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	626	33308858	101697658	1143	104163											
NAT10	55226	broad.mit.edu	37	chr11	34129782	34129782	+	Frame_Shift_Del	DEL	A	A	-													aatttttcaccatgcatcggAaaaaggtggataaccgaatc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:34129781_34129781GA>G	uc001mvk.3	+	1	253	c.9_9GA>G	c.(7-9)cggfs	p.R3fs	NAT10_uc010ren.2_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	3						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)				CCATGCATCGGAAAAAGGTGG	0.438													-	34129782	A	-	34129782	7	5	191	1	0	1	0	1	0	0	0	0	10174	247	9	0	12	0	NAT10	11	34129782	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	820924	34129782	100876734	1144	104164											
APIP	51074	broad.mit.edu	37	chr11	34904909	34904909	+	Frame_Shift_Del	DEL	C	C	-													tttggccttctcccatgtttCcccccacacatatactccat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:34904908_34904908TC>T	uc010reo.1	-	6	808	c.656_656GA>A	c.(655-657)gaafs	p.E219fs	APIP_uc001mvs.2_Frame_Shift_Del_p.E202fs			Q96GX9	MTNB_HUMAN	Homo sapiens APAF1 interacting protein (APIP), mRNA.	202					L-methionine salvage|apoptosis	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACAC	0.453													-	34904909	C	-	34904909	7	5	191	1	0	1	0	1	0	0	0	0	774	864	30	0	132	0	APIP	11	34904909	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	775127	34904909	100101607	1145	104165											
CHST1	8534	broad.mit.edu	37	chr11	45671376	45671376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaaaggccacgatgtcGtaggagaggcggaagcgcca	17	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45671376G>A	uc001mys.1	-	4	1769	c.1098C>T	c.(1096-1098)TAC>TAT	p.Y366Y		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	366	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCACGATGTCGTAGGAGAGGC	0.657													A	45671376	G	A	45671376	2	1	191	1	0	0	0	0	0	0	0	1	3397	1140	40	1		1	CHST1	11	45671376	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	10766467	45671376	89335140	1146	104166											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949777	45949777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagactatgcccgctggCgggaggctcaggccccgtac	13	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45949777C>T	uc001nbv.1	+	13	1915	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R571W|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R602W|GYLTL1B_uc001nby.1_Missense_Mutation_p.R285W|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	602	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		TGCCCGCTGGCGGGAGGCTCA	0.662													T	45949777	C	T	45949777	3	4	191	1	0	0	0	0	1	0	0	0	6907	759	27	1	1850	1	GYLTL1B	11	45949777	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	278401	45949777	89056739	1147	104167											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949840	45949840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaccctacgtggtggtgCcacgagactgtccccgctat	11	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45949840C>T	uc001nbv.1	+	13	1978	c.1867C>T	c.(1867-1869)CCA>TCA	p.P623S	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P592S|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P623S|GYLTL1B_uc001nby.1_Missense_Mutation_p.P306S|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	623	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CGTGGTGGTGCCACGAGACTG	0.642													T	45949840	C	T	45949840	3	4	191	1	0	0	0	0	1	0	0	0	6907	739	26	2	1913	2	GYLTL1B	11	45949840	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	63	45949840	89056676	1148	104168											
PHF21A	51317	broad.mit.edu	37	chr11	45967444	45967444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacaggtgcagggaaagTgaatgtggtctctgtctttt	13	6	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45967444T>C	uc001ncc.3	-	14	2020	c.1396A>G	c.(1396-1398)ACT>GCT	p.T466A	PHF21A_uc001ncb.3_Intron|PHF21A_uc009ykx.2_Intron|PHF21A_uc001nce.2_Missense_Mutation_p.T467A|PHF21A_uc001nca.1_Missense_Mutation_p.T202A	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	466					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(1)|skin(1)	2						GCAGGGAAAGTGAATGTGGTC	0.502													C	45967444	T	C	45967444	3	2	191	1	0	0	0	0	1	0	0	0	11833	1696	59	3	666	3	PHF21A	11	45967444	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	17604	45967444	89039072	1149	104169											
CKAP5	9793	broad.mit.edu	37	chr11	46837768	46837768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaggctttcctcagtgTctctatacaggccactatga	7	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:46837768T>G	uc001ndi.1	-	4	549	c.439A>C	c.(439-441)ACA>CCA	p.T147P	CKAP5_uc009ylg.1_Missense_Mutation_p.T33P|CKAP5_uc001ndj.1_Missense_Mutation_p.T147P	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	147					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|protein binding			ovary(1)|skin(1)	2						TTCCTCAGTGTCTCTATACAG	0.303													G	46837768	T	G	46837768	3	3	191	1	0	0	0	0	1	0	0	0	3445	1667	58	5	5823	5	CKAP5	11	46837768	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	870324	46837768	88168748	1150	104170											
ACP2	53	broad.mit.edu	37	chr11	47266285	47266285	+	Splice_Site	DEL	C	C	-													cacgctgtccttgtcactcaCccccctgaagccgggccttc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:47266284_47266284AC>A	uc001nei.3	-	7	889	c.772_splice	c.e7+1	p.G258_splice	ACP2_uc010rhe.2_Splice_Site_p.G230_splice|ACP2_uc009ylj.3_Splice_Site_p.G186_splice|ACP2_uc010rhf.2_Splice_Site_p.G226_splice|ACP2_uc010rhg.2_Splice_Site_p.G195_splice|ACP2_uc010rhh.2_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	258						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						CTTGTCACTCACCCCCCTGAA	0.562													-	47266285	C	-	47266285	8	5	191	1	0	1	0	1	0	0	1	0	163	521	18	0	518	0	ACP2	11	47266285	Splice_Site	DEL	C	TCGA-CG-5723-01A-11D-1600-08	428517	47266285	87740231	1151	104171											
MADD	8567	broad.mit.edu	37	chr11	47310991	47310991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgtcattaaacacagCccaacagtgaaaagagaacc	6	11	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:47310991C>T	uc001ner.1	+	17	2954	c.2763C>T	c.(2761-2763)AGC>AGT	p.S921S	MADD_uc001neq.2_Silent_p.S901S|MADD_uc001nev.1_Silent_p.S858S|MADD_uc001nes.1_Silent_p.S878S|MADD_uc001net.1_Silent_p.S921S|MADD_uc009yln.1_Silent_p.S858S|MADD_uc001neu.1_Silent_p.S858S|MADD_uc001nex.2_Silent_p.S921S|MADD_uc001nez.2_Silent_p.S858S|MADD_uc001new.2_Silent_p.S901S|MADD_uc009ylo.2_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	921					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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TTAAACACAGCCCAACAGTGA	0.478													T	47310991	C	T	47310991	2	4	191	1	0	0	0	0	0	0	0	1	9152	738	26	2		2	MADD	11	47310991	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	44706	47310991	87695525	1152	104172											
AGBL2	79841	broad.mit.edu	37	chr11	47726206	47726206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggggttctcgaagacGtgggtttacttcatccaact	10	10	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:47726206G>A	uc001ngg.2	-	6	575	c.475C>T	c.(475-477)CGT>TGT	p.R159C	AGBL2_uc010rhq.1_Missense_Mutation_p.R121C|AGBL2_uc001ngh.1_Missense_Mutation_p.R103C	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	159					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TCTCGAAGACGTGGGTTTACT	0.443													A	47726206	G	A	47726206	3	1	191	1	0	0	0	0	1	0	0	0	376	1145	40	1	2285	1	AGBL2	11	47726206	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	415215	47726206	87280310	1153	104173											
PTPRJ	5795	broad.mit.edu	37	chr11	48157734	48157734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctaaccacacaagcacgTatgacaaagcgattactctc	6	13	2	1	rs151134680		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:48157734T>C	uc001ngp.3	+	9	2114	c.1759T>C	c.(1759-1761)TAT>CAT	p.Y587H	PTPRJ_uc010rhr.1_Missense_Mutation_p.Y32H	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	587	Extracellular (Potential).|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)|kidney(3)|ovary(1)|skin(1)	8						CACAAGCACGTATGACAAAGC	0.532													C	48157734	T	C	48157734	3	2	191	1	0	0	0	0	1	0	0	0	12804	1638	57	3	1802	3	PTPRJ	11	48157734	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	431528	48157734	86848782	1154	104174											
OR5D18	219438	broad.mit.edu	37	chr11	55587205	55587205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcttcctggtttttctgGccatctacaatgtcactgtg	7	12	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:55587205G>A	uc010rin.1	+	1	100	c.100G>A	c.(100-102)GCC>ACC	p.A34T		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				GGTTTTTCTGGCCATCTACAA	0.463													A	55587205	G	A	55587205	3	1	191	1	0	0	0	0	1	0	0	0	11157	1203	42	2	102	2	OR5D18	11	55587205	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7429471	55587205	79419311	1155	104175											
OR5T2	219464	broad.mit.edu	37	chr11	56000654	56000654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcttgtatatactgTacgacatatattcagcagtg	8	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:56000654T>C	uc010rjc.1	-	1	8	c.8A>G	c.(7-9)TAC>TGC	p.Y3C		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTATATACTGTACGACATATA	0.368													C	56000654	T	C	56000654	3	2	191	1	0	0	0	0	1	0	0	0	11182	1638	57	3	1070	3	OR5T2	11	56000654	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	413449	56000654	79005862	1156	104176											
APLNR	187	broad.mit.edu	37	chr11	57004240	57004240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcccacaggggcagcgtcAccacgaaggtcaggtcagcc	13	14	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57004240A>G	uc001njo.2	-	1	688	c.239T>C	c.(238-240)GTG>GCG	p.V80A	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	80	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						GGGCAGCGTCACCACGAAGGT	0.587													G	57004240	A	G	57004240	3	3	191	1	0	0	0	0	1	0	0	0	777	159	6	3	907	3	APLNR	11	57004240	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1003586	57004240	78002276	1157	104177											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069355	57069355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaacgacatccgtgtccGgcggctctgaggttcctcca	11	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57069355G>A	uc001njr.2	-	8	5209	c.4897C>T	c.(4897-4899)CGG>TGG	p.R1633W	TNKS1BP1_uc001njp.2_Missense_Mutation_p.R205W|TNKS1BP1_uc001njq.2_Missense_Mutation_p.R206W|TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1633W	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1633	Nuclear localization signal (Potential).|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			skin(1)	1		all_epithelial(135;0.21)				ATCCGTGTCCGGCGGCTCTGA	0.572													A	57069355	G	A	57069355	3	1	191	1	0	0	0	0	1	0	0	0	16317	1115	39	1	304	1	TNKS1BP1	11	57069355	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	65115	57069355	77937161	1158	104178											
SSRP1	6749	broad.mit.edu	37	chr11	57095279	57095279	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggatggtctgacttgatcttCtctcggctggcattgagcca	12	10	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57095279C>A	uc001njt.2	-	14	1956	c.1689G>T	c.(1687-1689)GAG>GAT	p.E563D	TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	563	HMG box.				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			ovary(2)	2						ACTTGATCTTCTCTCGGCTGG	0.428													A	57095279	C	A	57095279	3	1	191	1	0	0	0	0	1	0	0	0	15193	912	32	5	456	5	SSRP1	11	57095279	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	25924	57095279	77911237	1159	104179											
ZDHHC5	25921	broad.mit.edu	37	chr11	57467412	57467412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaggctcagcctcccctgGcccaggccagccacctctca	8	20	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57467412G>A	uc001nkx.1	+	12	3313	c.2057G>A	c.(2056-2058)GGC>GAC	p.G686D	ZDHHC5_uc001nky.1_Missense_Mutation_p.G633D|ZDHHC5_uc001nkz.1_Missense_Mutation_p.G500D	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	686						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						GCCTCCCCTGGCCCAGGCCAG	0.572													A	57467412	G	A	57467412	3	1	191	1	0	0	0	0	1	0	0	0	17615	1203	42	2	2099	2	ZDHHC5	11	57467412	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	372133	57467412	77539104	1160	104180											
OR10Q1	219960	broad.mit.edu	37	chr11	57995413	57995413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtcagaggctgctttaCggataatggcactcctcaga	12	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57995413C>T	uc010rkd.1	-	1	935	c.935G>A	c.(934-936)CGT>CAT	p.R312H		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GGCTGCTTTACGGATAATGGC	0.498													T	57995413	C	T	57995413	3	4	191	1	0	0	0	0	1	0	0	0	10916	536	19	1	28	1	OR10Q1	11	57995413	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	528001	57995413	77011103	1161	104181											
FAM111B	374393	broad.mit.edu	37	chr11	58893587	58893587	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgggcttttttatcaaCgaggatttaatgtgcatgcc	9	8	1	0	rs147236932	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:58893587C>T	uc001nnl.2	+	4	2260	c.2017C>T	c.(2017-2019)CGA>TGA	p.R673*	FAM111B_uc001nnm.2_Nonsense_Mutation_p.R643*|FAM111B_uc010rko.1_Nonsense_Mutation_p.R643*	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	673							catalytic activity			ovary(2)	2						TTTTTATCAACGAGGATTTAA	0.348													T	58893587	C	T	58893587	4	4	191	1	0	0	0	0	0	1	0	0	5400	528	19	1	2023	1	FAM111B	11	58893587	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	898174	58893587	76112929	1162	104182											
STX3	6809	broad.mit.edu	37	chr11	59559674	59559674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaagggcgaatccagcGgcagctcgaaattagtatgt	12	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:59559674G>A	uc001nog.2	+	6	642	c.452G>A	c.(451-453)CGG>CAG	p.R151Q	STX3_uc010rkx.1_Missense_Mutation_p.R151Q|STX3_uc010rky.1_Missense_Mutation_p.R54Q|STX3_uc009ymt.1_Missense_Mutation_p.R54Q	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	151	Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						CGAATCCAGCGGCAGCTCGAA	0.527													A	59559674	G	A	59559674	3	1	191	1	0	0	0	0	1	0	0	0	15345	1116	39	1	474	1	STX3	11	59559674	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	666087	59559674	75446842	1163	104183											
TCN1	6947	broad.mit.edu	37	chr11	59629106	59629106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagacacaaggccaaaacGtccaggctgagctggtagta	11	10	0	2	rs139772818	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:59629106G>A	uc001noj.2	-	4	548	c.450C>T	c.(448-450)GAC>GAT	p.D150D		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCAAAACGTCCAGGCTGA	0.438													A	59629106	G	A	59629106	2	1	191	1	0	0	0	0	0	0	0	1	15703	1136	40	1		1	TCN1	11	59629106	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	69432	59629106	75377410	1164	104184											
GPR44	11251	broad.mit.edu	37	chr11	60620738	60620738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctagtgcccaaagcaccAggcagactttgtgcgccgcg	12	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:60620738A>G	uc001nqc.2	-	2	570	c.458T>C	c.(457-459)CTG>CCG	p.L153P		NM_004778	NP_004769	Q9Y5Y4	GPR44_HUMAN	G protein-coupled receptor 44	153	Helical; Name=4; (Potential).				immune response	integral to plasma membrane	N-formyl peptide receptor activity			ovary(1)	1						CCAAAGCACCAGGCAGACTTT	0.642													G	60620738	A	G	60620738	3	3	191	1	0	0	0	0	1	0	0	0	6695	188	7	3	733	3	GPR44	11	60620738	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	991632	60620738	74385778	1165	104185											
TMEM132A	54972	broad.mit.edu	37	chr11	60695270	60695270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagggtctggcagcctgcCctgtgcccggctccatgcca	12	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:60695270C>T	uc001nqj.2	+	3	666	c.473C>T	c.(472-474)CCC>CTC	p.P158L	TMEM132A_uc001nqi.2_Missense_Mutation_p.P158L|TMEM132A_uc001nqk.2_Missense_Mutation_p.P171L|TMEM132A_uc001nql.1_Missense_Mutation_p.P171L	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	158	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGCAGCCTGCCCTGTGCCCGG	0.657													T	60695270	C	T	60695270	3	4	191	1	0	0	0	0	1	0	0	0	16042	623	22	4	483	4	TMEM132A	11	60695270	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	74532	60695270	74311246	1166	104186											
CD5	921	broad.mit.edu	37	chr11	60886386	60886386	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccagagtgtctcattgcaGaaccccagaagacaacacct	7	14	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:60886386G>T	uc009ynk.2	+	4	504	c.401_splice	c.e4-1	p.E134_splice		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor						cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCTCATTGCAGAACCCCAGAA	0.612													T	60886386	G	T	60886386	5	4	191	1	0	0	0	0	0	0	1	0	3021	956	33	5	414	5	CD5	11	60886386	Splice_Site	SNP	G	TCGA-CG-5723-01A-11D-1600-08	191116	60886386	74120130	1167	104187											
FTH1	2495	broad.mit.edu	37	chr11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-													ccagtagtgactgattcacaTttttttccaaatgtaatgca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:61732516_61732516AT>A	uc001nsu.3	-	2	565	c.330_330AT>T	c.(328-330)aatfs	p.N110fs		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	110	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	ACTGATTCACATTTTTTTCCA	0.428													-	61732517	T	-	61732517	7	5	191	1	0	1	0	1	0	0	0	0	6082	1493	52	0	230	0	FTH1	11	61732517	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	846131	61732517	73273999	1168	104188											
AHNAK	79026	broad.mit.edu	37	chr11	62297658	62297658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggtcctgagacatcaaCgtcagctttgggcagcttca	11	10	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62297658C>T	uc001ntl.2	-	5	4531	c.4231G>A	c.(4231-4233)GTT>ATT	p.V1411I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1411					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GAGACATCAACGTCAGCTTTG	0.483													T	62297658	C	T	62297658	3	4	191	1	0	0	0	0	1	0	0	0	414	536	19	1	13561	1	AHNAK	11	62297658	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	565141	62297658	72708858	1169	104189											
ROM1	6094	broad.mit.edu	37	chr11	62381962	62381962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtagcatgctggctgtcAccttcctactgcaggtgagt	13	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62381962A>G	uc001ntv.2	+	2	1364	c.823A>G	c.(823-825)ACC>GCC	p.T275A	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	275	Helical; (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GCTGGCTGTCACCTTCCTACT	0.612													G	62381962	A	G	62381962	3	3	191	1	0	0	0	0	1	0	0	0	13521	159	6	3	829	3	ROM1	11	62381962	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	84304	62381962	72624554	1170	104190											
METTL12	751071	broad.mit.edu	37	chr11	62434242	62434242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgccgatgctcagaacCtgggggctgtggcttcttca	13	12	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62434242C>A	uc001nug.1	+	3	701	c.442C>A	c.(442-444)CTG>ATG	p.L148M	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	148						mitochondrion	methyltransferase activity				0						TGCTCAGAACCTGGGGGCTGT	0.592													A	62434242	C	A	62434242	3	1	191	1	0	0	0	0	1	0	0	0	9496	680	24	5	448	5	METTL12	11	62434242	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	52280	62434242	72572274	1171	104191											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62487636	62487636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaacagcaatagcttccGccgttggccagaattgtaca	9	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62487636G>A	uc001nuw.2	-	10	1832	c.1639C>T	c.(1639-1641)CGG>TGG	p.R547W	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	547					cell killing	nucleus	ATP binding|nucleic acid binding				0						AATAGCTTCCGCCGTTGGCCA	0.418													A	62487636	G	A	62487636	3	1	191	1	0	0	0	0	1	0	0	0	7275	1086	38	1	624	1	HNRNPUL2	11	62487636	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	53394	62487636	72518880	1172	104192											
TTC9C	283237	broad.mit.edu	37	chr11	62496515	62496515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgcctgaacaagaaaaCatattgcataccacccagac	5	14	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62496515C>T	uc001nuy.2	+	1	564	c.195C>T	c.(193-195)AAC>AAT	p.N65N	HNRNPUL2_uc001nuu.1_5'Flank|HNRNPUL2_uc001nuw.2_5'Flank|TTC9C_uc001nux.2_Silent_p.N198N	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	65							binding			ovary(1)|pancreas(1)	2						AACAAGAAAACATATTGCATA	0.527													T	62496515	C	T	62496515	2	4	191	1	0	0	0	0	0	0	0	1	16714	477	17	4		4	TTC9C	11	62496515	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8879	62496515	72510001	1173	104193											
SLC22A9	114571	broad.mit.edu	37	chr11	63137671	63137671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattcatacctggccatcGctgctgggtccacatcctgg	10	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:63137671G>A	uc001nww.2	+	1	411	c.143G>A	c.(142-144)CGC>CAC	p.R48H	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	48	Extracellular (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						CCTGGCCATCGCTGCTGGGTC	0.478													A	63137671	G	A	63137671	3	1	191	1	0	0	0	0	1	0	0	0	14461	1087	38	1	145	1	SLC22A9	11	63137671	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	641156	63137671	71868845	1174	104194											
RTN3	10313	broad.mit.edu	37	chr11	63487620	63487620	+	Frame_Shift_Del	DEL	A	A	-													tcccagttgtgagagagaagAaaaaacatctaaaaactttg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:63487619_63487619GA>G	uc001nxq.3	+	2	1832	c.1645_1645GA>G	c.(1645-1647)gaafs	p.E549fs	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Frame_Shift_Del_p.E437fs|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Frame_Shift_Del_p.E530fs|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	549					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGAGAGAGAAGAAAAAACATC	0.393													-	63487620	A	-	63487620	7	5	191	1	0	1	0	1	0	0	0	0	13727	246	9	0	1656	0	RTN3	11	63487620	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	349949	63487620	71518896	1175	104195											
FLRT1	23769	broad.mit.edu	37	chr11	63884234	63884234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacaactccgtgtccacCgtcagcattgaggaggacgc	12	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:63884234C>T	uc001nyi.1	+	2	836	c.495C>T	c.(493-495)ACC>ACT	p.T165T	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	137	LRR 4.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						CCGTGTCCACCGTCAGCATTG	0.627													T	63884234	C	T	63884234	2	4	191	1	0	0	0	0	0	0	0	1	5938	639	23	1		1	FLRT1	11	63884234	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	396614	63884234	71122282	1176	104196											
SLC22A12	116085	broad.mit.edu	37	chr11	64367852	64367852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagaaatgggggctctGcgctcagccttggccgtgct	13	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64367852G>A	uc001oam.1	+	8	2046	c.1299G>A	c.(1297-1299)CTG>CTA	p.L433L	SLC22A12_uc001oal.1_Silent_p.L212L|SLC22A12_uc009yps.1_Silent_p.L399L|SLC22A12_uc001oan.1_Silent_p.L325L|SLC22A12_uc009ypt.2_Silent_p.L251L	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	433					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						TGGGGGCTCTGCGCTCAGCCT	0.637													A	64367852	G	A	64367852	2	1	191	1	0	0	0	0	0	0	0	1	14443	1306	46	2		2	SLC22A12	11	64367852	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	483618	64367852	70638664	1177	104197											
NRXN2	9379	broad.mit.edu	37	chr11	64427829	64427830	+	Frame_Shift_Ins	INS	-	-	C													tgacagtgagcttcatctgcINScccccatccagctccaggcg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64427828_64427829G>GC	uc021qkw.1	-	10	2826_2827	c.2364_2365C>GC	c.(2362-2367)gggcagfs	p.G788fs	NRXN2_uc021qkx.1_Frame_Shift_Ins_p.G757fs|NRXN2_uc001oas.3_Frame_Shift_Ins_p.G757fs|NRXN2_uc001oaq.3_Frame_Shift_Ins_p.G455fs	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	788	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						AGCTTCATCTGCCCCCCATCCA	0.609													C	64427830	-	C	64427829	7	5	191	1	0	1	1	0	0	0	0	0	10666	726	26	0	3095	0	NRXN2	11	64427829	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	59977	64427829	70578687	1178	104198											
PYGM	5837	broad.mit.edu	37	chr11	64522768	64522768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcattggggtacaggacacGagagatgttctccgccaggt	13	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64522768G>A	uc001oax.3	-	7	1649	c.832C>T	c.(832-834)CGT>TGT	p.R278C	PYGM_uc001oay.3_Missense_Mutation_p.R190C	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	278					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	TACAGGACACGAGAGATGTTC	0.607													A	64522768	G	A	64522768	3	1	191	1	0	0	0	0	1	0	0	0	12862	1058	37	1	1752	1	PYGM	11	64522768	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	94939	64522768	70483748	1179	104199											
MEN1	4221	broad.mit.edu	37	chr11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-													gacagtcccaggaggcttccGggggggtcctgacactgcac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64572093delG	uc001obj.2	-	10	1634	c.1561delC	c.(1561-1563)CGGfs	p.R521fs	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obl.2_Frame_Shift_Del_p.R481fs|MEN1_uc001obm.2_Frame_Shift_Del_p.R516fs|MEN1_uc001obn.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obo.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obp.2_Frame_Shift_Del_p.R516fs|MEN1_uc001obq.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obr.2_Frame_Shift_Del_p.R521fs	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	521					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.R516fs*15(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						GGAGGCTTCCGGGGGGGTCCT	0.716			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				-	64572093	G	-	64572093	7	5	191	1	0	1	0	1	0	0	0	0	9472	1115	39	0	290	0	MEN1	11	64572093	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	49325	64572093	70434423	1180	104200											
ATG2A	23130	broad.mit.edu	37	chr11	64678286	64678286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgccctcacctccgtgTactcaggctcagaggtgccc	9	18	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64678286T>C	uc001obx.2	-	11	1722	c.1607A>G	c.(1606-1608)TAC>TGC	p.Y536C		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	536							protein binding			ovary(1)|central_nervous_system(1)	2						CACCTCCGTGTACTCAGGCTC	0.672													C	64678286	T	C	64678286	3	2	191	1	0	0	0	0	1	0	0	0	1093	1638	57	3	4333	3	ATG2A	11	64678286	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	106193	64678286	70328230	1181	104201											
PPP2R5B	5526	broad.mit.edu	37	chr11	64695857	64695857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcaagttcctgggtctcCgggcctacatccgcaaacag	11	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64695857C>T	uc001oby.2	+	6	1267	c.682C>T	c.(682-684)CGG>TGG	p.R228W	PPP2R5B_uc001obz.2_Missense_Mutation_p.R228W	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	228					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCTGGGTCTCCGGGCCTACAT	0.592													T	64695857	C	T	64695857	3	4	191	1	0	0	0	0	1	0	0	0	12393	643	23	1	700	1	PPP2R5B	11	64695857	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	17571	64695857	70310659	1182	104202											
SLC22A20	440044	broad.mit.edu	37	chr11	65000741	65000741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccatgctggtggccacCgccaccatgatttacgtggg	13	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65000741C>T	uc010roc.1	+	8	1167	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	388	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						TGGTGGCCACCGCCACCATGA	0.602													T	65000741	C	T	65000741	2	4	191	1	0	0	0	0	0	0	0	1	14451	667	23	1		1	SLC22A20	11	65000741	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	304884	65000741	70005775	1183	104203											
SLC25A45	283130	broad.mit.edu	37	chr11	65144119	65144119	+	Frame_Shift_Del	DEL	C	C	-													aggaagcaatgcctgcaaagCcccctgccaccagcaccgtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65144118_65144118GC>G	uc001odr.1	-	6	831	c.627_627GC>C	c.(625-627)ggcfs	p.G209fs	SLC25A45_uc009yqi.1_Frame_Shift_Del_p.G147fs|SLC25A45_uc001odq.1_Frame_Shift_Del_p.G185fs|SLC25A45_uc001ods.1_Frame_Shift_Del_p.G167fs|SLC25A45_uc001odt.1_Frame_Shift_Del_p.G167fs	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	209					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGCCTGCAAAGCCCCCTGCCA	0.612													-	65144119	C	-	65144119	7	5	191	1	0	1	0	1	0	0	0	0	14510	739	26	0	244	0	SLC25A45	11	65144119	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	143378	65144119	69862397	1184	104204											
FRMD8	83786	broad.mit.edu	37	chr11	65156922	65156922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcccatgagctgcaccGcgctgtccgcgaggtcctgc	13	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65156922G>A	uc001odu.3	+	3	368	c.176G>A	c.(175-177)CGC>CAC	p.R59H	FRMD8_uc009yqj.2_Intron|FRMD8_uc010rof.1_Missense_Mutation_p.R59H	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	59	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						GAGCTGCACCGCGCTGTCCGC	0.642													A	65156922	G	A	65156922	3	1	191	1	0	0	0	0	1	0	0	0	6056	1087	38	1	182	1	FRMD8	11	65156922	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	12803	65156922	69849594	1185	104205											
LTBP3	4054	broad.mit.edu	37	chr11	65321528	65321528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgcctggtaccttctgCtgagatctgtcccgggccta	11	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65321528C>T	uc001oej.2	-	2	924	c.655G>A	c.(655-657)GCA>ACA	p.A219T	LTBP3_uc010roi.1_Missense_Mutation_p.A102T|LTBP3_uc001oei.2_Missense_Mutation_p.A219T|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.A130T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	219						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GTACCTTCTGCTGAGATCTGT	0.692													T	65321528	C	T	65321528	3	4	191	1	0	0	0	0	1	0	0	0	9075	797	28	2	3364	2	LTBP3	11	65321528	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	164606	65321528	69684988	1186	104206											
PCNXL3	399909	broad.mit.edu	37	chr11	65396168	65396168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgcccagccgtttgccGtgccacgtatccagcctgtg	10	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65396168G>A	uc001oey.2	+	23	3805	c.3805G>A	c.(3805-3807)GTG>ATG	p.V1269M	PCNXL3_uc001oez.2_Missense_Mutation_p.V156M	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1269						integral to membrane					0						GCCGTTTGCCGTGCCACGTAT	0.662													A	65396168	G	A	65396168	3	1	191	1	0	0	0	0	1	0	0	0	11593	1145	40	1	3895	1	PCNXL3	11	65396168	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	74640	65396168	69610348	1187	104207											
DRAP1	10589	broad.mit.edu	37	chr11	65688801	65688801	+	Splice_Site	DEL	C	C	-													tcctgccttctgccctgcagCcccccgacacccttcctgcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65688800_65688800GC>G	uc001ogj.2	+	7	758	c.513_splice	c.e7-1	p.S171_splice	C11orf68_uc001ogi.3_5'Flank|C11orf68_uc009yqv.3_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	Homo sapiens DR1-associated protein 1 (negative cofactor 2 alpha) (DRAP1), mRNA.	171	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		CTGCCCTGCAGCCCCCCGACA	0.667													-	65688801	C	-	65688801	8	5	191	1	0	1	0	1	0	0	1	0	4755	753	26	0	539	0	DRAP1	11	65688801	Splice_Site	DEL	C	TCGA-CG-5723-01A-11D-1600-08	292633	65688801	69317715	1188	104208											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810516	65810516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcccaggccagtaggCgccgcagcagcactagcgac	13	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65810516C>T	uc001ogv.2	-	2	918	c.758G>A	c.(757-759)CGC>CAC	p.R253H	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R253H	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	253	Lumenal (Potential).				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			ovary(1)	1						GGCCAGTAGGCGCCGCAGCAG	0.607													T	65810516	C	T	65810516	3	4	191	1	0	0	0	0	1	0	0	0	6199	768	27	1	541	1	GAL3ST3	11	65810516	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	121715	65810516	69196000	1189	104209											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810617	65810617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccaggtaggcggcgtcGtcgcgcgggctgcgctcatt	16	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65810617G>A	uc001ogv.2	-	2	817	c.657C>T	c.(655-657)GAC>GAT	p.D219D	GAL3ST3_uc001ogw.2_Silent_p.D219D	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	219	Lumenal (Potential).				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			ovary(1)	1						AGGCGGCGTCGTCGCGCGGGC	0.667													A	65810617	G	A	65810617	2	1	191	1	0	0	0	0	0	0	0	1	6199	1136	40	1		1	GAL3ST3	11	65810617	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	101	65810617	69195899	1190	104210											
ADRBK1	156	broad.mit.edu	37	chr11	67047323	67047323	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccttagccatacatcgaagAgatttgtcaaaacctccgag	7	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:67047323A>T	uc009yrn.1	+	6	721	c.455A>T	c.(454-456)GAG>GTG	p.E152V	ADRBK1_uc009yrm.1_Missense_Mutation_p.E152V	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	152	RGS.|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			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TACATCGAAGAGATTTGTCAA	0.587													T	67047323	A	T	67047323	3	4	191	1	0	0	0	0	1	0	0	0	343	304	11	5	477	5	ADRBK1	11	67047323	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1236706	67047323	67959193	1191	104211											
PITPNM1	9600	broad.mit.edu	37	chr11	67269822	67269822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgtttggctgctgccccCcatcaggcaggtaataggtc	12	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:67269822C>A	uc001olx.2	-	3	545	c.356G>T	c.(355-357)GGG>GTG	p.G119V	PITPNM1_uc001oly.2_Missense_Mutation_p.G119V|PITPNM1_uc001olz.2_Missense_Mutation_p.G119V	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	119					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			lung(2)|central_nervous_system(1)	3						CTGCTGCCCCCCATCAGGCAG	0.607													A	67269822	C	A	67269822	3	1	191	1	0	0	0	0	1	0	0	0	11950	623	22	5	3462	5	PITPNM1	11	67269822	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	222499	67269822	67736694	1192	104212											
C11orf24	53838	broad.mit.edu	37	chr11	68029489	68029490	+	Frame_Shift_Del	DEL	TG	TG	-													tatatggcatggggcttggcTgtgtcgtgggggacatggcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:68029488_68029489CTG>C	uc001onr.4	-	3	1416_1417	c.974_975CAG>G	c.(973-975)cagfs	p.Q325fs		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	325	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGGGGCTTGGCTGTGTCGTGGG	0.624													-	68029490	TG	-	68029489	7	5	191	1	0	1	0	1	0	0	0	0	1635	1580	55	0	379	0	C11orf24	11	68029489	Frame_Shift_Del	DEL	TG	TCGA-CG-5723-01A-11D-1600-08	759667	68029489	66977027	1193	104213											
CTTN	2017	broad.mit.edu	37	chr11	70275243	70275244	+	Frame_Shift_Del	DEL	GA	GA	-													acaggcggaaggcggaggcgGagagagcccagcggatggcc					rs114157745	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:70275242_70275243GGA>G	uc001opv.4	+	13	1319_1320	c.1113_1114GGA>G	c.(1111-1116)gcggagfs	p.A371fs	CTTN_uc001opu.3_Frame_Shift_Del_p.A334fs|CTTN_uc001opw.4_Frame_Shift_Del_p.A334fs|CTTN_uc010rqm.2_Frame_Shift_Del_p.A55fs|CTTN_uc001opx.3_Frame_Shift_Del_p.A55fs	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	371						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)		AGGCGGAGGCGGAGAGAGCCCA	0.594													-	70275244	GA	-	70275243	7	5	191	1	0	1	0	1	0	0	0	0	4044	1175	41	0	1160	0	CTTN	11	70275243	Frame_Shift_Del	DEL	GA	TCGA-CG-5723-01A-11D-1600-08	2245754	70275243	64731273	1194	104214											
NUMA1	4926	broad.mit.edu	37	chr11	71719794	71719794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgtcaatactcaagTccagctggggcttagcctgg	12	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:71719794T>C	uc001orl.1	-	20	5328	c.5156A>G	c.(5155-5157)GAC>GGC	p.D1719G	NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.D1268G|NUMA1_uc001ork.1_Missense_Mutation_p.D583G|NUMA1_uc001orm.1_Missense_Mutation_p.D1705G|NUMA1_uc001orn.2_Missense_Mutation_p.D1282G	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1719					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						AATACTCAAGTCCAGCTGGGG	0.567			T	RARA	APL								C	71719794	T	C	71719794	3	2	191	1	0	0	0	0	1	0	0	0	10750	1667	58	3	1223	3	NUMA1	11	71719794	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1444551	71719794	63286722	1195	104215											
NUMA1	4926	broad.mit.edu	37	chr11	71720329	71720329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctgcagcttatagtgCtcagctgcctgctccttctg	8	14	2	0	rs143949849		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:71720329C>T	uc001orl.1	-	18	4996	c.4824G>A	c.(4822-4824)GAG>GAA	p.E1608E	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Silent_p.E1157E|NUMA1_uc001ork.1_Silent_p.E472E|NUMA1_uc001orm.1_Silent_p.E1594E|NUMA1_uc001orn.2_Silent_p.E1171E	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1608	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GCTTATAGTGCTCAGCTGCCT	0.637			T	RARA	APL								T	71720329	C	T	71720329	2	4	191	1	0	0	0	0	0	0	0	1	10750	796	28	2		2	NUMA1	11	71720329	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	535	71720329	63286187	1196	104216											
CLPB	81570	broad.mit.edu	37	chr11	72091323	72091323	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggacagcccacacttAccttccaaagaatggattcc	7	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:72091323A>G	uc001osj.2	-	4	696	c.646_splice	c.e4+1	p.D216_splice	CLPB_uc010rqx.1_Splice_Site_p.D171_splice|CLPB_uc010rqy.1_Splice_Site_p.V187_splice|CLPB_uc001osk.2_Splice_Site_p.V216_splice|CLPB_uc009ytg.2_Splice_Site|CLPB_uc010rqz.1_Splice_Site_p.V45_splice	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B						cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						GCCCACACTTACCTTCCAAAG	0.517													G	72091323	A	G	72091323	5	3	191	1	0	0	0	0	0	0	1	0	3551	405	14	3	1531	3	CLPB	11	72091323	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	370994	72091323	62915193	1197	104217											
CHRDL2	25884	broad.mit.edu	37	chr11	74415529	74415529	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagggtccagtccccAcctttcttatgtttctcctt	9	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:74415529A>G	uc001ovi.2	-	7	1004	c.751_splice	c.e7+1	p.A251_splice	CHRDL2_uc001ovg.2_Splice_Site_p.A135_splice|CHRDL2_uc001ovh.2_Splice_Site_p.A251_splice|CHRDL2_uc001ovj.1_Intron|CHRDL2_uc001ovk.1_Splice_Site_p.E251_splice			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;						cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					TCCAGTCCCCACCTTTCTTAT	0.612													G	74415529	A	G	74415529	5	3	191	1	0	0	0	0	0	0	1	0	3374	173	6	3	626	3	CHRDL2	11	74415529	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2324206	74415529	60590987	1198	104218											
CHRDL2	25884	broad.mit.edu	37	chr11	74417543	74417543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcaccaccccatggaGcgactgcacactgtcctctt	7	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:74417543G>T	uc001ovi.2	-	6	824	c.571C>A	c.(571-573)CTC>ATC	p.L191I	CHRDL2_uc001ovg.2_Missense_Mutation_p.L75I|CHRDL2_uc001ovh.2_Missense_Mutation_p.L191I|CHRDL2_uc001ovj.1_5'Flank|CHRDL2_uc001ovk.1_Missense_Mutation_p.L191I			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	191					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					ACCCCATGGAGCGACTGCACA	0.592													T	74417543	G	T	74417543	3	4	191	1	0	0	0	0	1	0	0	0	3374	971	34	5	812	5	CHRDL2	11	74417543	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2014	74417543	60588973	1199	104219											
UVRAG	7405	broad.mit.edu	37	chr11	75852178	75852178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacccagcgagcaggccggGtccgccagtgtccagcttcc	12	17	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:75852178G>A	uc001oxc.2	+	15	2062	c.1821G>A	c.(1819-1821)GGG>GGA	p.G607G	UVRAG_uc010rrw.1_Silent_p.G506G|UVRAG_uc001oxd.2_Silent_p.G235G|UVRAG_uc010rrx.1_Silent_p.G235G|UVRAG_uc010rry.1_Silent_p.G163G	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	607					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AGCAGGCCGGGTCCGCCAGTG	0.612													A	75852178	G	A	75852178	2	1	191	1	0	0	0	0	0	0	0	1	17105	1248	44	4		4	UVRAG	11	75852178	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1434635	75852178	59154338	1200	104220											
C11orf30	56946	broad.mit.edu	37	chr11	76207359	76207359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacagttccctaaacaAcatcaacagtctcctaagca	4	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:76207359A>G	uc001oxl.2	+	9	1352	c.1209A>G	c.(1207-1209)CAA>CAG	p.Q403Q	C11orf30_uc009yuj.1_Silent_p.Q418Q|C11orf30_uc010rsa.1_Silent_p.Q353Q|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Silent_p.Q418Q|C11orf30_uc010rsc.1_Silent_p.Q418Q|C11orf30_uc001oxn.2_Silent_p.Q404Q|C11orf30_uc010rsd.1_Silent_p.Q417Q	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	403	Interaction with BRCA2.|Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						TCCCTAAACAACATCAACAGT	0.473													G	76207359	A	G	76207359	2	3	191	1	0	0	0	0	0	0	0	1	1636	40	2	3		3	C11orf30	11	76207359	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	355181	76207359	58799157	1201	104221											
LRRC32	2615	broad.mit.edu	37	chr11	76371656	76371656	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtcggggatgagctcAatctcattgtagctcaaatc	10	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:76371656A>G	uc001oxq.3	-	3	1224	c.981T>C	c.(979-981)ATT>ATC	p.I327I	LRRC32_uc001oxr.3_Silent_p.I327I|LRRC32_uc010rsf.1_Silent_p.I327I	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	327	LRR 11.|Extracellular (Potential).					integral to plasma membrane					0						GGATGAGCTCAATCTCATTGT	0.607													G	76371656	A	G	76371656	2	3	191	1	0	0	0	0	0	0	0	1	8987	126	5	3		3	LRRC32	11	76371656	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	164297	76371656	58634860	1202	104222											
CAPN5	726	broad.mit.edu	37	chr11	76825332	76825332	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaggcaacacagcagAcgcactggtggacttcacgg	15	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:76825332A>C	uc001oxx.2	+	5	736	c.551A>C	c.(550-552)GAC>GCC	p.D184A	CAPN5_uc009yup.2_Missense_Mutation_p.D224A|CAPN5_uc009yuq.2_Missense_Mutation_p.D220A|CAPN5_uc001oxy.2_Missense_Mutation_p.D224A	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	184	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						AACACAGCAGACGCACTGGTG	0.572											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	76825332	A	C	76825332	3	2	191	1	0	0	0	0	1	0	0	0	2629	275	10	5	565	5	CAPN5	11	76825332	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	453676	76825332	58181184	1203	104223											
PAK1	5058	broad.mit.edu	37	chr11	77090970	77090970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacagcatcaaaaccgAcatgaattgtgtgttcaaaa	8	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:77090970A>G	uc001oyh.3	-	3	793	c.260T>C	c.(259-261)GTC>GCC	p.V87A	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Missense_Mutation_p.V87A|PAK1_uc001oyi.1_Missense_Mutation_p.V87A	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	87	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				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			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					ATCAAAACCGACATGAATTGT	0.418													G	77090970	A	G	77090970	3	3	191	1	0	0	0	0	1	0	0	0	11399	275	10	3	1482	3	PAK1	11	77090970	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	265638	77090970	57915546	1204	104224											
ALG8	79053	broad.mit.edu	37	chr11	77832193	77832193	+	Frame_Shift_Del	DEL	T	T	-													tctgtaagttctttacccacTttttttccatcaatgcattt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:77832192_77832192CT>C	uc001oza.1	-	3	462	c.397_397AG>G	c.(397-399)gtgfs	p.V133fs	ALG8_uc001oyz.1_Frame_Shift_Del_p.V133fs|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	133					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)			TCTTTACCCACTTTTTTTCCA	0.353													-	77832193	T	-	77832193	7	5	191	1	0	1	0	1	0	0	0	0	523	1606	56	0	1283	0	ALG8	11	77832193	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	741223	77832193	57174323	1205	104225											
ODZ4	26011	broad.mit.edu	37	chr11	78412977	78412977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgttcttccggataaaccGaattcggatgttcccaaggt	9	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:78412977G>A	uc001ozl.3	-	28	5144	c.4681C>T	c.(4681-4683)CGG>TGG	p.R1561W	ODZ4_uc009yvb.1_Missense_Mutation_p.R145W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1561	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CGGATAAACCGAATTCGGATG	0.493													A	78412977	G	A	78412977	3	1	191	1	0	0	0	0	1	0	0	0	10837	1057	37	1	3656	1	ODZ4	11	78412977	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	580784	78412977	56593539	1206	104226											
ODZ4	26011	broad.mit.edu	37	chr11	78449566	78449566	+	Frame_Shift_Del	DEL	G	G	-													actgatgttcacaccaaccaGgggggttccatctgatgtca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:78449565_78449565AG>A	uc001ozl.4	-	19	3270	c.2807_2807CT>T	c.(2806-2808)ctgfs	p.L936fs		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	936					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CACACCAACCAGGGGGGTTCC	0.458													-	78449566	G	-	78449566	7	5	191	1	0	1	0	1	0	0	0	0	10837	991	35	0	5563	0	ODZ4	11	78449566	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	36589	78449566	56556950	1207	104227											
HEPHL1	341208	broad.mit.edu	37	chr11	93837908	93837908	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgattttgaggaaagcaacaGaatgcatggtatatccaaag	10	5	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:93837908G>C	uc001pep.2	+	16	3054	c.2897G>C	c.(2896-2898)AGA>ACA	p.R966T	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	966	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAAAGCAACAGAATGCATGGT	0.388													C	93837908	G	C	93837908	3	2	191	1	0	0	0	0	1	0	0	0	7055	942	33	5	2959	5	HEPHL1	11	93837908	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	15388342	93837908	41168608	1208	104228											
MMP3	4314	broad.mit.edu	37	chr11	102714181	102714181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttaattacctgaacaaGgttcatgctggtgtcctcac	9	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:102714181G>A	uc001phj.1	-	1	162	c.97C>T	c.(97-99)CTT>TTT	p.L33F		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	33					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ACCTGAACAAGGTTCATGCTG	0.483													A	102714181	G	A	102714181	3	1	191	1	0	0	0	0	1	0	0	0	9666	1000	35	4	1376	4	MMP3	11	102714181	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	8876273	102714181	32292335	1209	104229											
MMP12	4321	broad.mit.edu	37	chr11	102743627	102743627	+	Frame_Shift_Del	DEL	C	C	-													taatgtttcctccatacgggCccccctggcatttccctgaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:102743626_102743626GC>G	uc001phk.3	-	1	416	c.319_319GC>C	c.(319-321)cccfs	p.P107fs		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	107					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)	CTCCATACGGGCCCCCCTGGC	0.502													-	102743627	C	-	102743627	7	5	191	1	0	1	0	1	0	0	0	0	9651	726	26	0	1129	0	MMP12	11	102743627	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	29446	102743627	32262889	1210	104230											
CASP5	838	broad.mit.edu	37	chr11	104874019	104874020	+	Frame_Shift_Del	DEL	AC	AC	-													acctcatcatgattttttttAcacagtctcaggaattcttc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:104874018_104874019TAC>T	uc010ruz.1	-	3	596_597	c.564_565GTA>A	c.(562-567)tgtaaafs	p.C188fs	CASP5_uc010rva.1_Frame_Shift_Del_p.C175fs|CASP5_uc010rvb.1_Frame_Shift_Del_p.C117fs|CASP5_uc010rvc.1_Frame_Shift_Del_p.C33fs|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	175					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.D188H(1)		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)		TGATTTTTTTTACACAGTCTCA	0.401													-	104874020	AC	-	104874019	7	5	191	1	0	1	0	1	0	0	0	0	2674	389	14	0	803	0	CASP5	11	104874019	Frame_Shift_Del	DEL	AC	TCGA-CG-5723-01A-11D-1600-08	2130392	104874019	30132497	1211	104231											
ALKBH8	91801	broad.mit.edu	37	chr11	107427630	107427630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtacggcttgttaggtgGcattaagagagcatccacca	12	8	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:107427630G>A	uc010rvr.1	-	3	304	c.229C>T	c.(229-231)CCA>TCA	p.P77S	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.P77S|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	77	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				0		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)		TTGTTAGGTGGCATTAAGAGA	0.458													A	107427630	G	A	107427630	3	1	191	1	0	0	0	0	1	0	0	0	533	1203	42	2	1805	2	ALKBH8	11	107427630	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2553611	107427630	27578886	1212	104232											
ATM	472	broad.mit.edu	37	chr11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagtattcttcaggatttCgtaatattgccgtcaaagaa	8	6	3	1	rs138398778		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:108117798C>T	uc001pkb.1	+	8	1394	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		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	p.R337C(2)|p.R337S(2)|p.R337H(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		TTCAGGATTTCGTAATATTGC	0.323			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)			T	108117798	C	T	108117798	3	4	191	1	0	0	0	0	1	0	0	0	1109	884	31	1	1035	1	ATM	11	108117798	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	690168	108117798	26888718	1213	104233											
ATM	472	broad.mit.edu	37	chr11	108216477	108216477	+	Frame_Shift_Del	DEL	A	A	-													tctctatttaaaggaggtgcAaaaaaagtcttttgaagaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:108216476_108216476CA>C	uc001pkb.1	+	57	8810	c.8425_8425CA>C	c.(8425-8427)caafs	p.Q2809fs	ATM_uc009yxr.1_Frame_Shift_Del_p.Q2809fs|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.Q1461fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2809	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|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 N-terminus binding|protein complex binding|protein dimerization activity			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)		AAAGGAGGTGCAAAAAAAGTC	0.274			"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)			-	108216477	A	-	108216477	7	5	191	1	0	1	0	1	0	0	0	0	1109	130	5	0	8652	0	ATM	11	108216477	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	98679	108216477	26790039	1214	104234											
SIK2	23235	broad.mit.edu	37	chr11	111591703	111591703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaaagtgcagttgttgTatgaacaaataggaccggag	12	5	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:111591703T>C	uc001plt.2	+	12	1979	c.1861T>C	c.(1861-1863)TAT>CAT	p.Y621H		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	621					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						GCAGTTGTTGTATGAACAAAT	0.512													C	111591703	T	C	111591703	3	2	191	1	0	0	0	0	1	0	0	0	14318	1638	57	3	1907	3	SIK2	11	111591703	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3375226	111591703	23414813	1215	104235											
PPP2R1B	5519	broad.mit.edu	37	chr11	111597740	111597740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaattcccagctgggcAagtgtgtctctagtatctcc	9	12	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:111597740A>G	uc001plw.1	-	16	2037	c.1953T>C	c.(1951-1953)CTT>CTC	p.L651L	uc001plu.1_5'Flank|PPP2R1B_uc009yye.1_RNA|PPP2R1B_uc010rwi.1_Silent_p.L587L	NM_181699	NP_859050	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	Error:Variant_position_missing_in_P30154_after_alignment							protein binding				0		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)		CCAGCTGGGCAAGTGTGTCTC	0.453													G	111597740	A	G	111597740	2	3	191	1	0	0	0	0	0	0	0	1	12383	117	5	3		3	PPP2R1B	11	111597740	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	6037	111597740	23408776	1216	104236											
HTR3A	3359	broad.mit.edu	37	chr11	113853876	113853876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccaaatatcccgtacGtgtatattcggcatcaaggc	8	11	2	0	rs139646314		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:113853876G>A	uc010rxb.1	+	5	660	c.427G>A	c.(427-429)GTG>ATG	p.V143M	HTR3A_uc010rxa.1_Missense_Mutation_p.V143M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V122M	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	137	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		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)	TATCCCGTACGTGTATATTCG	0.532													A	113853876	G	A	113853876	3	1	191	1	0	0	0	0	1	0	0	0	7444	1145	40	1	471	1	HTR3A	11	113853876	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2256136	113853876	21152640	1217	104237											
SIDT2	51092	broad.mit.edu	37	chr11	117054505	117054505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcctgcagcgcaaagactTccccagcaacagcttttatg	7	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117054505T>A	uc001pqh.1	+	7	754	c.713T>A	c.(712-714)TTC>TAC	p.F238Y	SIDT2_uc010rxe.1_Missense_Mutation_p.F238Y|SIDT2_uc001pqg.2_Missense_Mutation_p.F238Y|SIDT2_uc001pqi.1_Missense_Mutation_p.F238Y	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	238	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	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)		CGCAAAGACTTCCCCAGCAAC	0.388													A	117054505	T	A	117054505	3	1	191	1	0	0	0	0	1	0	0	0	14303	1783	62	5	739	5	SIDT2	11	117054505	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3200629	117054505	17952011	1218	104238											
RNF214	257160	broad.mit.edu	37	chr11	117152859	117152859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacacatgccccctgccGcctccatcccacctccccca	4	25	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117152859G>A	uc001pqt.2	+	11	1630	c.1585G>A	c.(1585-1587)GCC>ACC	p.A529T	RNF214_uc001pqu.2_Missense_Mutation_p.A529T|RNF214_uc010rxf.1_Missense_Mutation_p.A374T	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	529	Pro-rich.						zinc ion binding				0	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)		GCCCCCTGCCGCCTCCATCCC	0.627													A	117152859	G	A	117152859	3	1	191	1	0	0	0	0	1	0	0	0	13478	1087	38	1	1623	1	RNF214	11	117152859	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	98354	117152859	17853657	1219	104239											
DSCAML1	57453	broad.mit.edu	37	chr11	117302319	117302319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccatgctgggagcccaCggtgcgccagtcggaggtga	16	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117302319C>T	uc001prh.1	-	31	5487	c.5485G>A	c.(5485-5487)GTG>ATG	p.V1829M		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1769	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		TGGGAGCCCACGGTGCGCCAG	0.647													T	117302319	C	T	117302319	3	4	191	1	0	0	0	0	1	0	0	0	4769	536	19	1	868	1	DSCAML1	11	117302319	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	149460	117302319	17704197	1220	104240											
DSCAML1	57453	broad.mit.edu	37	chr11	117303931	117303931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagccgtgggccctggGgtggccctttcacaggggtg	18	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117303931G>A	uc001prh.1	-	29	5131	c.5129C>T	c.(5128-5130)CCC>CTC	p.P1710L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1650	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		TGGGCCCTGGGGTGGCCCTTT	0.572													A	117303931	G	A	117303931	3	1	191	1	0	0	0	0	1	0	0	0	4769	1232	43	4	1232	4	DSCAML1	11	117303931	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1612	117303931	17702585	1221	104241											
DSCAML1	57453	broad.mit.edu	37	chr11	117651445	117651445	+	Frame_Shift_Del	DEL	C	C	-													ggccgggcagggcaccaccaCccccacggagctggaaaagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117651444_117651444AC>A	uc001prh.1	-	1	310	c.308_308GT>T	c.(307-309)gtgfs	p.V103fs	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	43	Ig-like C2-type 1.				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)		GGGCACCACCACCCCCACGGA	0.657													-	117651445	C	-	117651445	7	5	191	1	0	1	0	1	0	0	0	0	4769	507	18	0	6162	0	DSCAML1	11	117651445	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	347514	117651445	17355071	1222	104242											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629614	+	Splice_Site	DEL	G	G	-													tttctgcaaatgggaattctGgggggggagcgggaaaaaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:118629613_118629613TG>T	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAG	0.423			T	IGH@	B-NHL								-	118629614	G	-	118629614	8	5	191	1	0	1	0	1	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	DEL	G	TCGA-CG-5723-01A-11D-1600-08	978169	118629614	16376902	1223	104243											
CXCR5	643	broad.mit.edu	37	chr11	118765107	118765107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcctggacaccctggCgaggctgaaggccgtggaca	13	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:118765107C>T	uc001pue.3	+	2	964	c.854C>T	c.(853-855)GCG>GTG	p.A285V	CXCR5_uc001puf.2_Missense_Mutation_p.A240V	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	285	Extracellular (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	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)		GACACCCTGGCGAGGCTGAAG	0.602													T	118765107	C	T	118765107	3	4	191	1	0	0	0	0	1	0	0	0	4094	768	27	1	860	1	CXCR5	11	118765107	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	135493	118765107	16241409	1224	104244											
TECTA	7007	broad.mit.edu	37	chr11	121000373	121000373	+	Frame_Shift_Del	DEL	T	T	-													ggtcaggaagtggaattgccTtttttccatccttcggggaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:121000372_121000372CT>C	uc010rzo.2	+	8	2393	c.2393_2393CT>C	c.(2392-2394)cctfs	p.P798fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	798	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)		GTGGAATTGCCTTTTTTCCAT	0.438													-	121000373	T	-	121000373	7	5	191	1	0	1	0	1	0	0	0	0	15744	1596	56	0	2428	0	TECTA	11	121000373	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2235266	121000373	14006143	1225	104245											
SC5DL	6309	broad.mit.edu	37	chr11	121177962	121177962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcatgacggtgattttcGtgtcccccaaatcttacagc	7	12	2	2	rs148689830		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:121177962G>A	uc001pxu.2	+	5	789	c.641G>A	c.(640-642)CGT>CAT	p.R214H	SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Missense_Mutation_p.R214H	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	214					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GGTGATTTTCGTGTCCCCCAA	0.353													A	121177962	G	A	121177962	3	1	191	1	0	0	0	0	1	0	0	0	13866	1145	40	1	655	1	SC5DL	11	121177962	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	177589	121177962	13828554	1226	104246											
OR8B8	26493	broad.mit.edu	37	chr11	124310573	124310573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaacacacctggggagAcatggtgaccatgtacaaca	11	9	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:124310573A>G	uc010sal.1	-	1	409	c.409T>C	c.(409-411)TCT>CCT	p.S137P		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		ACCTGGGGAGACATGGTGACC	0.517													G	124310573	A	G	124310573	3	3	191	1	0	0	0	0	1	0	0	0	11230	275	10	3	529	3	OR8B8	11	124310573	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3132611	124310573	10695943	1227	104247											
TBRG1	84897	broad.mit.edu	37	chr11	124496862	124496862	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccccgtgggctattgcagTactcgaatatatgccagcat	9	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:124496862T>A	uc001qak.3	+	5	892	c.654T>A	c.(652-654)AGT>AGA	p.S218R	TBRG1_uc001qaj.3_Missense_Mutation_p.S67R|TBRG1_uc001qal.3_5'UTR|TBRG1_uc001qam.3_RNA|TBRG1_uc009zbf.2_RNA|TBRG1_uc009zbg.2_Missense_Mutation_p.S67R|TBRG1_uc009zbh.2_5'UTR	NM_032811	NP_116200	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	218	FYR N-terminal.				cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding				0	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;0.0218)		GCTATTGCAGTACTCGAATAT	0.493													A	124496862	T	A	124496862	3	1	191	1	0	0	0	0	1	0	0	0	15645	1635	57	5	672	5	TBRG1	11	124496862	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	186289	124496862	10509654	1228	104248											
HEPACAM	220296	broad.mit.edu	37	chr11	124794736	124794736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgctgagaagcagggaGccattttcaaagagtcggat	14	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:124794736G>A	uc001qbk.2	-	2	721	c.315C>T	c.(313-315)GGC>GGT	p.G105G	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.G105G	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	105	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	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)		GAAGCAGGGAGCCATTTTCAA	0.587													A	124794736	G	A	124794736	2	1	191	1	0	0	0	0	0	0	0	1	7052	958	34	2		2	HEPACAM	11	124794736	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	297874	124794736	10211780	1229	104249											
STT3A	3703	broad.mit.edu	37	chr11	125484229	125484229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttttccaggcaatggcgtCcacagaggaaaaagcctatg	11	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:125484229C>A	uc001qcd.2	+	15	1792	c.1682C>A	c.(1681-1683)TCC>TAC	p.S561Y	STT3A_uc001qce.2_Missense_Mutation_p.S561Y|STT3A_uc010sbg.1_Missense_Mutation_p.S469Y|STT3A_uc009zbn.2_Missense_Mutation_p.S283Y	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	561	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCAATGGCGTCCACAGAGGAA	0.448													A	125484229	C	A	125484229	3	1	191	1	0	0	0	0	1	0	0	0	15332	855	30	5	1736	5	STT3A	11	125484229	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	689493	125484229	9522287	1230	104250											
FOXRED1	55572	broad.mit.edu	37	chr11	126147409	126147409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccccacccgctagttgTcaacatgtactttgctactg	9	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:126147409T>C	uc001qdi.2	+	11	1333	c.1286T>C	c.(1285-1287)GTC>GCC	p.V429A	FOXRED1_uc010sbn.1_Missense_Mutation_p.V259A|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.V242A|FOXRED1_uc010sbq.1_Missense_Mutation_p.V296A|FOXRED1_uc001qdj.2_Missense_Mutation_p.V218A|FOXRED1_uc010sbr.1_Missense_Mutation_p.V415A|FOXRED1_uc001qdk.2_Missense_Mutation_p.V218A	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	429						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCGCTAGTTGTCAACATGTAC	0.587													C	126147409	T	C	126147409	3	2	191	1	0	0	0	0	1	0	0	0	6033	1667	58	3	1328	3	FOXRED1	11	126147409	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	663180	126147409	8859107	1231	104251											
ARHGAP32	9743	broad.mit.edu	37	chr11	128842466	128842466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgattagttctgtgcgtgCgctgaagtgtggcagcagca	15	8	1	1	rs148138101	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:128842466C>T	uc009zcp.2	-	21	3893	c.3893G>A	c.(3892-3894)CGC>CAC	p.R1298H	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R257H|ARHGAP32_uc001qez.2_Missense_Mutation_p.R949H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1298					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			lung(3)|ovary(2)	5						TCTGTGCGTGCGCTGAAGTGT	0.557													T	128842466	C	T	128842466	3	4	191	1	0	0	0	0	1	0	0	0	881	768	27	1	2378	1	ARHGAP32	11	128842466	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2695057	128842466	6164050	1232	104252											
ARHGAP32	9743	broad.mit.edu	37	chr11	128846512	128846512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttttagctgaacggagggTtccttctgccctgccacctg	10	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:128846512T>C	uc009zcp.2	-	19	2098	c.2098A>G	c.(2098-2100)ACC>GCC	p.T700A	ARHGAP32_uc009zcq.1_Missense_Mutation_p.T660A|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.T351A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	700					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			lung(3)|ovary(2)	5						GAACGGAGGGTTCCTTCTGCC	0.363													C	128846512	T	C	128846512	3	2	191	1	0	0	0	0	1	0	0	0	881	1725	60	3	4181	3	ARHGAP32	11	128846512	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	4046	128846512	6160004	1233	104253											
ARHGAP32	9743	broad.mit.edu	37	chr11	128851443	128851443	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccactgaagcaggcagattCtatctgttttgatctgtgag	10	8	3	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:128851443C>A	uc009zcp.2	-	16	1606	c.1606G>T	c.(1606-1608)GAA>TAA	p.E536*	ARHGAP32_uc009zcq.1_Nonsense_Mutation_p.E496*|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.E187*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	536	Rho-GAP.				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			lung(3)|ovary(2)	5						CAGGCAGATTCTATCTGTTTT	0.423													A	128851443	C	A	128851443	4	1	191	1	0	0	0	0	0	1	0	0	881	922	32	5	4685	5	ARHGAP32	11	128851443	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4931	128851443	6155073	1234	104254											
ST14	6768	broad.mit.edu	37	chr11	130060404	130060404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgatgcgcttcaccacGcccggcttccctgacagccc	10	18	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:130060404G>A	uc001qfw.2	+	7	883	c.690G>A	c.(688-690)ACG>ACA	p.T230T	ST14_uc010sca.1_Silent_p.T40T	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	230	Extracellular (Potential).|CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	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)	GCTTCACCACGCCCGGCTTCC	0.692													A	130060404	G	A	130060404	2	1	191	1	0	0	0	0	0	0	0	1	15210	1074	38	1		1	ST14	11	130060404	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1208961	130060404	4946112	1235	104255											
IGSF9B	22997	broad.mit.edu	37	chr11	133791085	133791085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatgagctcgatgggCgtggtggcctctgcctcggc	16	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:133791085C>T	uc001qgx.3	-	18	2766	c.2535G>A	c.(2533-2535)ACG>ACA	p.T845T		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	845	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	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)		GCTCGATGGGCGTGGTGGCCT	0.642													T	133791085	C	T	133791085	2	4	191	1	0	0	0	0	0	0	0	1	7606	755	27	1		1	IGSF9B	11	133791085	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3730681	133791085	1215431	1236	104256											
IGSF9B	22997	broad.mit.edu	37	chr11	133794769	133794769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatcagatcctgcatgaCggccagaacccggaactcat	10	13	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:133794769C>T	uc001qgx.3	-	15	2296	c.2065G>A	c.(2065-2067)GTC>ATC	p.V689I	IGSF9B_uc001qgy.1_Missense_Mutation_p.V531I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	689	Fibronectin type-III 2.|Extracellular (Potential).					integral to membrane|plasma membrane					0	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)		TCCTGCATGACGGCCAGAACC	0.577													T	133794769	C	T	133794769	3	4	191	1	0	0	0	0	1	0	0	0	7606	536	19	1	2004	1	IGSF9B	11	133794769	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3684	133794769	1211747	1237	104257											
JAM3	83700	broad.mit.edu	37	chr11	134014848	134014848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagagccaatcccagatttCgcaattcttctttccactta	4	14	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:134014848C>T	uc001qhb.1	+	5	730	c.706C>T	c.(706-708)CGC>TGC	p.R236C	JAM3_uc009zcz.1_Missense_Mutation_p.R185C	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	191	Extracellular (Potential).|Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCCAGATTTCGCAATTCTTC	0.502													T	134014848	C	T	134014848	3	4	191	1	0	0	0	0	1	0	0	0	7944	884	31	1	724	1	JAM3	11	134014848	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	220079	134014848	991668	1238	104258											
NCAPD3	23310	broad.mit.edu	37	chr11	134022911	134022911	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtctttattcctggcGggagaccgcacattccactg	12	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:134022911G>T	uc001qhd.1	-	35	5031	c.4425C>A	c.(4423-4425)CCC>CCA	p.P1475P	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.P426Q	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1475					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		TATTCCTGGCGGGAGACCGCA	0.562													T	134022911	G	T	134022911	2	4	191	1	0	0	0	0	0	0	0	1	10206	1103	39	5		5	NCAPD3	11	134022911	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	8063	134022911	983605	1239	104259											
GLB1L2	89944	broad.mit.edu	37	chr11	134212847	134212847	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaacaccctcaccacgTaggtgctgcccctgtccccc	8	19	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:134212847T>C	uc001qhp.2	+	2	472	c.284_splice	c.e2+2	p.T95_splice		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		CCTCACCACGTAGGTGCTGCC	0.607													C	134212847	T	C	134212847	5	2	191	1	0	0	0	0	0	0	1	0	6429	1652	57	3	292	3	GLB1L2	11	134212847	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	189936	134212847	793669	1240	104260											
KDM5A	5927	broad.mit.edu	37	chr12	416792	416792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatcttgccaactcataGcacgttctgtcaaacactgc	5	14	5	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:416792G>A	uc001qif.1	-	23	4121	c.3758C>T	c.(3757-3759)GCT>GTT	p.A1253V	KDM5A_uc001qie.1_Missense_Mutation_p.A1253V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1253					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			skin(2)|ovary(1)	3						CCAACTCATAGCACGTTCTGT	0.542			T 	NUP98	AML								A	416792	G	A	416792	3	1	191	1	0	0	0	0	1	0	0	0	8133	971	34	2	1338	2	KDM5A	12	416792	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08		416792	133435103	1241	104261											
KDM5A	5927	broad.mit.edu	37	chr12	443551	443551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagactgttccaggacaGgcatgttattcaaattccaa	8	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:443551G>A	uc001qif.1	-	11	1709	c.1346C>T	c.(1345-1347)CCT>CTT	p.P449L	KDM5A_uc001qie.1_Missense_Mutation_p.P449L|KDM5A_uc010sdn.1_Missense_Mutation_p.P408L|KDM5A_uc010sdo.1_Missense_Mutation_p.P68L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	449	JmjC.				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			skin(2)|ovary(1)	3						TTCCAGGACAGGCATGTTATT	0.388			T 	NUP98	AML								A	443551	G	A	443551	3	1	191	1	0	0	0	0	1	0	0	0	8133	1000	35	4	3798	4	KDM5A	12	443551	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	26759	443551	133408344	1242	104262											
RAD52	5893	broad.mit.edu	37	chr12	1025516	1025516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccctcgctcaccctcacTcttctcagctgacggcgtgg	8	19	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:1025516T>C	uc001qis.1	-	9	973	c.859A>G	c.(859-861)AGT>GGT	p.S287G	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.S210G|RAD52_uc001qiu.1_Missense_Mutation_p.S287G|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_3'UTR	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	287					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	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)			TCACCCTCACTCTTCTCAGCT	0.433								Homologous_recombination					C	1025516	T	C	1025516	3	2	191	1	0	0	0	0	1	0	0	0	12991	1551	54	3	413	3	RAD52	12	1025516	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	581965	1025516	132826379	1243	104263											
CACNA1C	775	broad.mit.edu	37	chr12	2705039	2705039	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcccctctcccgtacaGgtttcgcctccagtgccacc	7	20	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:2705039G>T	uc009zdu.1	+	20	2977	c.2664_splice	c.e20-1	p.R888_splice	CACNA1C_uc009zdv.1_Splice_Site_p.R885_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkc.2_Splice_Site_p.R888_splice|CACNA1C_uc001qke.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R888_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R888_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R888_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R888_splice|CACNA1C_uc001qko.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R888_splice|CACNA1C_uc001qku.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R888_splice|CACNA1C_uc001qks.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R888_splice|CACNA1C_uc001qka.1_Splice_Site_p.R423_splice|CACNA1C_uc001qki.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkj.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkk.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkm.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkw.2_Splice_Site_p.R177_splice	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,						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			ovary(10)|central_nervous_system(1)	11			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)	CTCCCGTACAGGTTTCGCCTC	0.577													T	2705039	G	T	2705039	5	4	191	1	0	0	0	0	0	0	1	0	2540	1014	35	5	2849	5	CACNA1C	12	2705039	Splice_Site	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1679523	2705039	131146856	1244	104264											
FOXM1	2305	broad.mit.edu	37	chr12	2968136	2968136	+	Frame_Shift_Del	DEL	G	G	-													gctgagatccatcagccccaGggggtcaggcaaggggtcag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:2968135_2968135AG>A	uc001qlf.3	-	8	2244	c.1961_1961CT>T	c.(1960-1962)ctgfs	p.L654fs	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Frame_Shift_Del_p.L692fs|FOXM1_uc009zea.3_Frame_Shift_Del_p.L639fs|FOXM1_uc009zeb.3_Frame_Shift_Del_p.L638fs|FOXM1_uc001qlg.3_Frame_Shift_Del_p.L639fs	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	654					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 Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|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)			CATCAGCCCCAGGGGGTCAGG	0.597													-	2968136	G	-	2968136	7	5	191	1	0	1	0	1	0	0	0	0	6018	991	35	0	335	0	FOXM1	12	2968136	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	263097	2968136	130883759	1245	104265											
PRMT8	56341	broad.mit.edu	37	chr12	3649780	3649780	+	Frame_Shift_Del	DEL	C	C	-													tcttcccctcaggtgaacagCcccccctcccagccccccca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:3649779_3649779GC>G	uc001qmf.3	+	1	450	c.83_83GC>G	c.(82-84)agcfs	p.S28fs	PRMT8_uc009zed.3_Frame_Shift_Del_p.S19fs|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	28					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)			CAGGTGAACAGCCCCCCCTCC	0.662													-	3649780	C	-	3649780	7	5	191	1	0	1	0	1	0	0	0	0	12542	738	26	0	90	0	PRMT8	12	3649780	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	681644	3649780	130202115	1246	104266											
VWF	7450	broad.mit.edu	37	chr12	6128544	6128544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgcccgcatacttcAcctggctggcaatgcgccgc	11	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:6128544A>G	uc001qnn.1	-	28	4290	c.4040T>C	c.(4039-4041)GTG>GCG	p.V1347A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1347	VWFA 1; binding site for platelet glycoprotein Ib.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CGCATACTTCACCTGGCTGGC	0.627													G	6128544	A	G	6128544	3	3	191	1	0	0	0	0	1	0	0	0	17243	159	6	3	4501	3	VWF	12	6128544	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2478764	6128544	127723351	1247	104267											
GPR162	27239	broad.mit.edu	37	chr12	6934773	6934773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcctgcgagcgctaccGcgccgacgtgcgcacagtgt	14	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:6934773G>A	uc001qqw.1	+	3	1527	c.992G>A	c.(991-993)CGC>CAC	p.R331H	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.R47H|GPR162_uc009zfd.1_Missense_Mutation_p.R27H|GPR162_uc001qqy.1_Missense_Mutation_p.R27H	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	331	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GAGCGCTACCGCGCCGACGTG	0.647											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6934773	G	A	6934773	3	1	191	1	0	0	0	0	1	0	0	0	6666	1087	38	1	1017	1	GPR162	12	6934773	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	806229	6934773	126917122	1248	104268											
GPR162	27239	broad.mit.edu	37	chr12	6935968	6935968	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggggtcctcctgagtacCtgggacaaagacacaggttg	14	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:6935968C>A	uc001qqw.1	+	5	1901	c.1366C>A	c.(1366-1368)CTG>ATG	p.L456M	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.L172M|GPR162_uc009zfd.1_Missense_Mutation_p.L152M|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	456	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCCTGAGTACCTGGGACAAAG	0.637													A	6935968	C	A	6935968	3	1	191	1	0	0	0	0	1	0	0	0	6666	680	24	5	1399	5	GPR162	12	6935968	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1195	6935968	126915927	1249	104269											
C1R	715	broad.mit.edu	37	chr12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-													tgtagttgcagcgcaggtcaGgggggtaggaccgagggtac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:7242010delG	uc010sfy.1	-	5	706	c.647delC	c.(646-648)CCTfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					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)	GCGCAGGTCAGGGGGGTAGGA	0.597													-	7242010	G	-	7242010	7	5	191	1	0	1	0	1	0	0	0	0	1972	1000	35	0	1177	0	C1R	12	7242010	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	306042	7242010	126609885	1250	104270											
SLC2A14	144195	broad.mit.edu	37	chr12	7984225	7984225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcggttaacaaagagtcCgacggaaaaggagccgatca	12	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:7984225C>T	uc001qtk.2	-	9	1109	c.316G>A	c.(316-318)GGA>AGA	p.G106R	SLC2A14_uc001qtl.2_Missense_Mutation_p.G83R|SLC2A14_uc001qtm.2_Missense_Mutation_p.G83R|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Missense_Mutation_p.G106R|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.G121R	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	106	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		ACAAAGAGTCCGACGGAAAAG	0.537											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7984225	C	T	7984225	3	4	191	1	0	0	0	0	1	0	0	0	14543	661	23	1	1278	1	SLC2A14	12	7984225	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	742215	7984225	125867670	1251	104271											
FAM90A1	55138	broad.mit.edu	37	chr12	8374755	8374755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctaagcacctgggcgGgtgtcctcgtgcctgtctgg	15	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:8374755G>A	uc001qui.2	-	7	1617	c.1058C>T	c.(1057-1059)CCC>CTC	p.P353L	FAM90A1_uc001quh.2_Missense_Mutation_p.P353L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	353							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		CACCTGGGCGGGTGTCCTCGT	0.672													A	8374755	G	A	8374755	3	1	191	1	0	0	0	0	1	0	0	0	5650	1232	43	4	340	4	FAM90A1	12	8374755	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	390530	8374755	125477140	1252	104272											
PRB3	5544	broad.mit.edu	37	chr12	11420683	11420683	+	Frame_Shift_Del	DEL	G	G	-													gggactggtttcctccttgtGggggtggtccttctggcttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:11420682_11420682TG>T	uc001qzs.3	-	2	539	c.501_501CA>A	c.(499-501)ccafs	p.P167fs	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	167	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			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)			TTCCTCCTTGTGGGGGTGGTC	0.652													-	11420683	G	-	11420683	7	5	191	1	0	1	0	1	0	0	0	0	12444	1348	47	0	437	0	PRB3	12	11420683	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	3045928	11420683	122431212	1253	104273											
GSG1	83445	broad.mit.edu	37	chr12	13238096	13238096	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcttactatgcttgcacttGaactccagcaccatcctggt	6	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:13238096G>T	uc001rbn.2	-	7	1001	c.828C>A	c.(826-828)TTC>TTA	p.F276L	GSG1_uc001rbj.2_Missense_Mutation_p.F240L|GSG1_uc001rbk.2_Missense_Mutation_p.Q282K|GSG1_uc001rbl.2_Missense_Mutation_p.F212L|GSG1_uc001rbm.2_Missense_Mutation_p.F189L|GSG1_uc001rbo.2_Missense_Mutation_p.Q318K|GSG1_uc001rbp.2_Missense_Mutation_p.F253L|GSG1_uc001rbq.1_Missense_Mutation_p.Q318K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	263						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCTTGCACTTGAACTCCAGCA	0.557													T	13238096	G	T	13238096	3	4	191	1	0	0	0	0	1	0	0	0	6820	1299	45	5	264	5	GSG1	12	13238096	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1817413	13238096	120613799	1254	104274											
PLCZ1	89869	broad.mit.edu	37	chr12	18872569	18872569	+	Splice_Site	DEL	A	A	-													tttggtgtgctttcctaactAaaaaaataaaataaaataag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:18872568_18872568TA>T	uc021qvx.1	-	5	559	c.368_splice	c.e5-1	p.V123_splice	PLCZ1_uc001rdv.4_Splice_Site_p.V19_splice|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	123					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)					CTTTCCTAACtaaaaaaataa	0.279													-	18872569	A	-	18872569	8	5	191	1	0	1	0	1	0	0	1	0	12044	377	13	0		0	PLCZ1	12	18872569	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	5634473	18872569	114979326	1255	104275											
PDE3A	5139	broad.mit.edu	37	chr12	20766556	20766556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaagcccagagtgaatccCgtcacttcgctcagtgaaaa	8	13	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:20766556C>T	uc001reh.1	+	3	1213	c.1191C>T	c.(1189-1191)CCC>CCT	p.P397P		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	397					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GAGTGAATCCCGTCACTTCGC	0.488													T	20766556	C	T	20766556	2	4	191	1	0	0	0	0	0	0	0	1	11637	639	23	1		1	PDE3A	12	20766556	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1893987	20766556	113085339	1256	104276											
SLCO1A2	6579	broad.mit.edu	37	chr12	21448696	21448696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaccaccaattatatatCcaatacatattggaggtaag	5	7	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:21448696C>T	uc001rer.2	-	9	1357	c.1106G>A	c.(1105-1107)GGA>GAA	p.G369E	SLCO1A2_uc001res.2_Missense_Mutation_p.G369E|SLCO1A2_uc010siq.1_Missense_Mutation_p.G237E|SLCO1A2_uc010sio.1_Missense_Mutation_p.G237E|SLCO1A2_uc010sip.1_Missense_Mutation_p.G237E|SLCO1A2_uc001ret.2_Missense_Mutation_p.G367E|SLCO1A2_uc001reu.2_Missense_Mutation_p.G349E	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	369	Helical; Name=8; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AATTATATATCCAATACATAT	0.284													T	21448696	C	T	21448696	3	4	191	1	0	0	0	0	1	0	0	0	14722	855	30	4	930	4	SLCO1A2	12	21448696	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	682140	21448696	112403199	1257	104277											
GYS2	2998	broad.mit.edu	37	chr12	21693395	21693395	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcctctcagttctgttCctctggataatcctttggcg	10	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:21693395C>T	uc001rfb.2	-	14	2013	c.1758G>A	c.(1756-1758)AGG>AGA	p.R586R		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	586					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			lung(1)|skin(1)	2						CAGTTCTGTTCCTCTGGATAA	0.438													T	21693395	C	T	21693395	2	4	191	1	0	0	0	0	0	0	0	1	6913	854	30	4		4	GYS2	12	21693395	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	244699	21693395	112158500	1258	104278											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354586	22354586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggagaaattcctcgggcAtggcatggaagccagaaaag	14	7	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:22354586A>G	uc001rfo.3	-	5	1453	c.971T>C	c.(970-972)ATG>ACG	p.M324T	ST8SIA1_uc009zix.2_Missense_Mutation_p.M181T	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	324	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						TTCCTCGGGCATGGCATGGAA	0.502													G	22354586	A	G	22354586	3	3	191	1	0	0	0	0	1	0	0	0	15230	217	8	3	103	3	ST8SIA1	12	22354586	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	661191	22354586	111497309	1259	104279											
ITPR2	3709	broad.mit.edu	37	chr12	26572040	26572040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcaaaccaggacatacGccacgtgatagagaaaggcc	11	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:26572040G>A	uc001rhg.2	-	50	7469	c.7052C>T	c.(7051-7053)GCG>GTG	p.A2351V	ITPR2_uc009zjg.1_Missense_Mutation_p.A502V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2351	Extracellular (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CAGGACATACGCCACGTGATA	0.448													A	26572040	G	A	26572040	3	1	191	1	0	0	0	0	1	0	0	0	7921	1087	38	1	1085	1	ITPR2	12	26572040	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4217454	26572040	107279855	1260	104280											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27113500	27113500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcttccttgatgcatctcGacacatccttgaagcacctc	5	14	2	2	rs144332739	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:27113500G>A	uc001rhm.2	+	5	791	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	FGFR1OP2_uc001rhl.2_Missense_Mutation_p.R150Q|FGFR1OP2_uc001rhn.2_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	150						cytoplasm					0	Colorectal(261;0.0847)					GATGCATCTCGACACATCCTT	0.403													A	27113500	G	A	27113500	3	1	191	1	0	0	0	0	1	0	0	0	5865	1058	37	1	463	1	FGFR1OP2	12	27113500	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	541460	27113500	106738395	1261	104281											
DDX11	1663	broad.mit.edu	37	chr12	31254802	31254802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcattctctgtaacctgtgCggtgtggttcctggaggggt	15	9	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:31254802C>T	uc001rjt.1	+	21	2339	c.2088C>T	c.(2086-2088)TGC>TGT	p.C696C	DDX11_uc001rjr.1_Silent_p.C696C|DDX11_uc001rjs.1_Intron|DDX11_uc001rju.1_Silent_p.C368C|DDX11_uc001rjv.1_Silent_p.C696C|DDX11_uc001rjw.1_Silent_p.C670C|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	696					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(3)	3	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)					GTAACCTGTGCGGTGTGGTTC	0.627										Multiple Myeloma(12;0.14)			T	31254802	C	T	31254802	2	4	191	1	0	0	0	0	0	0	0	1	4343	776	27	1		1	DDX11	12	31254802	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4141302	31254802	102597093	1262	104282											
C12orf35	55196	broad.mit.edu	37	chr12	32138395	32138395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaacacagcagcggcgtGcagacctctaaagaatcatt	10	10	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:32138395G>A	uc001rks.2	+	4	4920	c.4506G>A	c.(4504-4506)GTG>GTA	p.V1502V	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1502										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GCAGCGGCGTGCAGACCTCTA	0.408													A	32138395	G	A	32138395	2	1	191	1	0	0	0	0	0	0	0	1	1682	1306	46	2		2	C12orf35	12	32138395	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	883593	32138395	101713500	1263	104283											
FGD4	121512	broad.mit.edu	37	chr12	32777363	32777363	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttattttagttctgcgCaagacaaagaagaatggatc	9	5	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:32777363C>T	uc001rkz.2	+	12	1996	c.1519C>T	c.(1519-1521)CAA>TAA	p.Q507*	FGD4_uc001rlc.2_Nonsense_Mutation_p.Q592*|FGD4_uc001rky.2_Nonsense_Mutation_p.Q259*|FGD4_uc001rla.2_Nonsense_Mutation_p.Q163*|FGD4_uc010ske.1_Nonsense_Mutation_p.Q619*|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	507	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			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TAGTTCTGCGCAAGACAAAGA	0.224													T	32777363	C	T	32777363	4	4	191	1	0	0	0	0	0	1	0	0	5835	711	25	2	1557	2	FGD4	12	32777363	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	638968	32777363	101074532	1264	104284											
YAF2	10138	broad.mit.edu	37	chr12	42555564	42555564	+	Frame_Shift_Del	DEL	T	T	-													aactgggagacaggtcgaggTttcctgtgtgcatgttaaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:42555563_42555563GT>G	uc001rmw.3	-	3	401	c.229_229AC>C	c.(229-231)cctfs	p.P77fs	YAF2_uc010sko.2_Frame_Shift_Del_p.P44fs|YAF2_uc001rmv.3_Frame_Shift_Del_p.P53fs|YAF2_uc010skp.2_Frame_Shift_Del_p.P11fs	NM_001190979	NP_001177908	Q8IY57	YAF2_HUMAN	Homo sapiens YY1 associated factor 2 (YAF2), transcript variant 1, mRNA.	53					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)		ACAGGTCGAGGTTTCCTGTGT	0.338													-	42555564	T	-	42555564	7	5	191	1	0	1	0	1	0	0	0	0	17462	1722	60	0	394	0	YAF2	12	42555564	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	9778201	42555564	91296331	1265	104285											
ADAMTS20	80070	broad.mit.edu	37	chr12	43837660	43837660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacgtttgttgctcctgCgggaatctttacaacaacat	8	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:43837660C>T	uc010skx.1	-	16	2224	c.2224G>A	c.(2224-2226)GCA>ACA	p.A742T		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	742	Spacer.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)		GTTGCTCCTGCGGGAATCTTT	0.383													T	43837660	C	T	43837660	3	4	191	1	0	0	0	0	1	0	0	0	266	768	27	1	3603	1	ADAMTS20	12	43837660	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1282096	43837660	90014235	1266	104286											
TMEM117	84216	broad.mit.edu	37	chr12	44782314	44782314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacccttctttggtttgCatcaggtctgacttcaatga	8	9	4	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:44782314C>T	uc001rod.2	+	8	1470	c.1404C>T	c.(1402-1404)TGC>TGT	p.C468C	TMEM117_uc001roe.2_Silent_p.C364C|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	468						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CTTTGGTTTGCATCAGGTCTG	0.443													T	44782314	C	T	44782314	2	4	191	1	0	0	0	0	0	0	0	1	16028	718	25	2		2	TMEM117	12	44782314	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	944654	44782314	89069581	1267	104287											
ARID2	196528	broad.mit.edu	37	chr12	46211569	46211569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggactttgctattaacGtatgcactctcctatcaaat	6	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:46211569G>A	uc001ros.1	+	5	535	c.535G>A	c.(535-537)GTA>ATA	p.V179I	ARID2_uc001ror.2_Missense_Mutation_p.V179I	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		TGCTATTAACGTATGCACTCT	0.388													A	46211569	G	A	46211569	3	1	191	1	0	0	0	0	1	0	0	0	915	1145	40	1	553	1	ARID2	12	46211569	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1429255	46211569	87640326	1268	104288											
SFRS2IP	9169	broad.mit.edu	37	chr12	46322307	46322307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggggcagctacagAgctccgaagtttctttttca	9	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:46322307A>G	uc001rox.2	-	11	1464	c.1177T>C	c.(1177-1179)TCT>CCT	p.S393P	SFRS2IP_uc001row.2_Missense_Mutation_p.S78P|SFRS2IP_uc001roy.1_Missense_Mutation_p.S467P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	393					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		GCAGCTACAGAGCTCCGAAGT	0.423													G	46322307	A	G	46322307	3	3	191	1	0	0	0	0	1	0	0	0	14177	304	11	3	3234	3	SFRS2IP	12	46322307	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	110738	46322307	87529588	1269	104289											
FAM113B	91523	broad.mit.edu	37	chr12	47628998	47628998	+	Frame_Shift_Del	DEL	G	G	-													tcccgggcagcttagagcaaGgggggagctgaacttcgaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:47628997_47628997AG>A	uc001rpq.3	+	1	676	c.151_151AG>A	c.(151-153)aggfs	p.R51fs	FAM113B_uc001rpn.3_Frame_Shift_Del_p.R51fs|FAM113B_uc021qxi.1_Frame_Shift_Del_p.R51fs	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	51							hydrolase activity	p.R51G(2)|p.R51R(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCTTAGAGCAAGGGGGGAGCT	0.612													-	47628998	G	-	47628998	7	5	191	1	0	1	0	1	0	0	0	0	5402	1000	35	0	154	0	FAM113B	12	47628998	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1306691	47628998	86222897	1270	104290											
PFKM	5213	broad.mit.edu	37	chr12	48501948	48501948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactatggatgatccagacaCcgtgggaagcatacctgttt	10	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:48501948C>T	uc001rrb.1	+	3	400	c.176C>T	c.(175-177)ACC>ATC	p.T59I	SENP1_uc001rqw.2_5'Flank|SENP1_uc001rqx.2_5'Flank|SENP1_uc001rqy.2_5'Flank|SENP1_uc001rqz.2_5'Flank|SENP1_uc009zkx.2_5'Flank|PFKM_uc001rra.1_5'UTR	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	Error:Variant_position_missing_in_P08237_after_alignment					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			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						GATCCAGACACCGTGGGAAGC	0.438													T	48501948	C	T	48501948	3	4	191	1	0	0	0	0	1	0	0	0	11765	507	18	4	182	4	PFKM	12	48501948	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	872950	48501948	85349947	1271	104291											
ZNF641	121274	broad.mit.edu	37	chr12	48737327	48737327	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtgctacacagcaggtttGagaaactatcttcctgaaga	9	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:48737327G>C	uc001rrn.1	-	6	911	c.746C>G	c.(745-747)TCA>TGA	p.S249*	ZNF641_uc001rro.1_Nonsense_Mutation_p.S235*|ZNF641_uc010sls.1_Nonsense_Mutation_p.S226*	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	249	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CAGCAGGTTTGAGAAACTATC	0.542													C	48737327	G	C	48737327	4	2	191	1	0	0	0	0	0	1	0	0	18054	1294	45	5	574	5	ZNF641	12	48737327	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	235379	48737327	85114568	1272	104292											
DDX23	9416	broad.mit.edu	37	chr12	49225894	49225894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggatttggccaacacgtcGcagcccttcttctggttgac	11	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49225894G>A	uc001rsm.2	-	15	2122	c.2031C>T	c.(2029-2031)TGC>TGT	p.C677C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	677	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						CCAACACGTCGCAGCCCTTCT	0.517													A	49225894	G	A	49225894	2	1	191	1	0	0	0	0	0	0	0	1	4350	1079	38	1		1	DDX23	12	49225894	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	488567	49225894	84626001	1273	104293											
MLL2	8085	broad.mit.edu	37	chr12	49434444	49434444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagtgtaggagccagggCgaaagatgtctgggtgactt	17	6	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49434444C>T	uc001rta.3	-	31	7109	c.7109G>A	c.(7108-7110)CGC>CAC	p.R2370H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2370	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGAGCCAGGGCGAAAGATGTC	0.657			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49434444	C	T	49434444	3	4	191	1	0	0	0	0	1	0	0	0	9621	768	27	1	9600	1	MLL2	12	49434444	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	208550	49434444	84417451	1274	104294											
MLL2	8085	broad.mit.edu	37	chr12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-													aaggtgccaaagcctgggcaGggggtggctcctggggcctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49434491_49434491AG>A	uc001rta.4	-	30	7062	c.7062_7062CT>T	c.(7060-7062)cctfs	p.P2354fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2354	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AAGCCTGGGCAGGGGGTGGCT	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49434492	G	-	49434492	7	5	191	1	0	1	0	1	0	0	0	0	9621	1000	35	0	9648	0	MLL2	12	49434492	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	48	49434492	84417403	1275	104295											
TROAP	10024	broad.mit.edu	37	chr12	49722991	49722991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgttcaacctaaaacccgGttcacacccatgccatcaac	4	17	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49722991G>A	uc001rtx.3	+	10	1235	c.1068G>A	c.(1066-1068)CGG>CGA	p.R356R	TROAP_uc009zlh.2_Silent_p.R356R|TROAP_uc001rty.2_Silent_p.R64R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	356					cell adhesion	cytoplasm				ovary(1)	1						CTAAAACCCGGTTCACACCCA	0.547													A	49722991	G	A	49722991	2	1	191	1	0	0	0	0	0	0	0	1	16572	1248	44	4		4	TROAP	12	49722991	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	288499	49722991	84128904	1276	104296											
KCNH3	23416	broad.mit.edu	37	chr12	49937067	49937067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcactcagggggtgtttGgggagaaaccaaacttgcct	13	10	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49937067G>A	uc001ruh.1	+	5	849	c.589G>A	c.(589-591)GGG>AGG	p.G197R	KCNH3_uc010smj.1_Missense_Mutation_p.G137R	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	197	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GGGGGTGTTTGGGGAGAAACC	0.567													A	49937067	G	A	49937067	3	1	191	1	0	0	0	0	1	0	0	0	8033	1348	47	4	607	4	KCNH3	12	49937067	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	214076	49937067	83914828	1277	104297											
AQP6	363	broad.mit.edu	37	chr12	50369362	50369362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctatcctcacaggcaccGtagaggtggggacaggggca	16	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:50369362G>A	uc001rvr.1	+	4	1094	c.757G>A	c.(757-759)GTA>ATA	p.V253I	AQP6_uc001rvp.1_Missense_Mutation_p.V79I|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	253	Cytoplasmic (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						CACAGGCACCGTAGAGGTGGG	0.647													A	50369362	G	A	50369362	3	1	191	1	0	0	0	0	1	0	0	0	830	1145	40	1	771	1	AQP6	12	50369362	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	432295	50369362	83482533	1278	104298											
LARP4	113251	broad.mit.edu	37	chr12	50794705	50794705	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaggggcaaggcgagtGtgtgtccttatcctagcaat	16	7	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:50794705G>A	uc001rwp.1	+	1	56	c.-88G>A	c.(-90--86)GTGTG>GTATG		LARP4_uc001rwo.1_Translation_Start_Site|LARP4_uc001rwq.1_Translation_Start_Site|LARP4_uc001rwr.1_Translation_Start_Site|LARP4_uc001rws.1_Translation_Start_Site|LARP4_uc001rwm.2_Translation_Start_Site|LARP4_uc001rwn.2_Translation_Start_Site	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a								nucleotide binding|RNA binding			ovary(1)	1						CAAGGCGAGTGTGTGTCCTTA	0.647													A	50794705	G	A	50794705	1	1	191	1	0	0	0	0	0	0	0	0	8630	1392	48	4		4	LARP4	12	50794705	Translation_Start_Site	SNP	G	TCGA-CG-5723-01A-11D-1600-08	425343	50794705	83057190	1279	104299											
SLC4A8	9498	broad.mit.edu	37	chr12	51844755	51844755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcaccggagacgagggCggggcaaaggagccagccag	18	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:51844755C>T	uc001rys.1	+	3	404	c.226C>T	c.(226-228)CGG>TGG	p.R76W	SLC4A8_uc010sni.1_Missense_Mutation_p.R23W|SLC4A8_uc001rym.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryn.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryo.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryp.1_Missense_Mutation_p.R23W|SLC4A8_uc010snj.1_Missense_Mutation_p.R103W|SLC4A8_uc001ryq.3_Missense_Mutation_p.R76W|SLC4A8_uc001ryr.2_Missense_Mutation_p.R76W|SLC4A8_uc010snk.1_Missense_Mutation_p.R23W	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	76	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGACGAGGGCGGGGCAAAGG	0.662													T	51844755	C	T	51844755	3	4	191	1	0	0	0	0	1	0	0	0	14659	759	27	1	236	1	SLC4A8	12	51844755	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1050050	51844755	82007140	1280	104300											
KRT2	3849	broad.mit.edu	37	chr12	53044214	53044214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccatccagatatctctTgaggctgtcgatatacccct	8	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53044214T>C	uc001sat.2	-	2	742	c.709A>G	c.(709-711)AAG>GAG	p.K237E		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	237	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGATATCTCTTGAGGCTGTCG	0.483													C	53044214	T	C	53044214	3	2	191	1	0	0	0	0	1	0	0	0	8457	1821	63	3	1242	3	KRT2	12	53044214	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1199459	53044214	80807681	1281	104301											
KRT8	3856	broad.mit.edu	37	chr12	53295004	53295004	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattgatctcatcctcatacCtgtgaggaaaagacttacaa	6	9	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53295004C>A	uc001sbd.2	-	3	637	c.534_splice	c.e3-1	p.K178_splice	KRT8_uc009zmj.2_Splice_Site_p.K178_splice|KRT8_uc009zmk.1_Splice_Site_p.K206_splice|KRT8_uc009zml.1_Splice_Site_p.K178_splice|KRT8_uc009zmm.1_Splice_Site_p.K178_splice	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8						cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCTCATACCTGTGAGGAAA	0.463													A	53295004	C	A	53295004	5	1	191	1	0	0	0	0	0	0	1	0	8493	695	24	5	942	5	KRT8	12	53295004	Splice_Site	SNP	C	TCGA-CG-5723-01A-11D-1600-08	250790	53295004	80556891	1282	104302											
SP7	121340	broad.mit.edu	37	chr12	53722463	53722463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatatccaccactaccccCagtgcttgcaccccgtgggg	8	19	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53722463C>T	uc001sct.2	-	2	870	c.763G>A	c.(763-765)GGG>AGG	p.G255R	SP7_uc001scu.2_Missense_Mutation_p.G237R|SP7_uc001scv.2_Missense_Mutation_p.G255R	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCACTACCCCCAGTGCTTGCA	0.622													T	53722463	C	T	53722463	3	4	191	1	0	0	0	0	1	0	0	0	14969	594	21	4	536	4	SP7	12	53722463	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	427459	53722463	80129432	1283	104303											
SP1	6667	broad.mit.edu	37	chr12	53776718	53776718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgccaatagctactcaacTactactaccaccagcaacat	3	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53776718T>C	uc001scw.2	+	3	1084	c.987T>C	c.(985-987)ACT>ACC	p.T329T	SP1_uc010sog.1_Silent_p.T322T	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	329	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				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			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCTACTCAACTACTACTACCA	0.502													C	53776718	T	C	53776718	2	2	191	1	0	0	0	0	0	0	0	1	14959	1509	53	3		3	SP1	12	53776718	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	54255	53776718	80075177	1284	104304											
DCD	117159	broad.mit.edu	37	chr12	55039010	55039010	+	Frame_Shift_Del	DEL	C	C	-													cttttcctagttttccgagtCcccccacagctttttttgct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:55039009_55039009TC>T	uc001sgj.3	-	3	299	c.237_237GA>A	c.(235-237)ggafs	p.G79fs	DCD_uc009znt.3_Frame_Shift_Del_p.G79fs|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GTTTTCCGAGTCCCCCCACAG	0.478													-	55039010	C	-	55039010	7	5	191	1	0	1	0	1	0	0	0	0	4283	855	30	0	104	0	DCD	12	55039010	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1262292	55039010	78812885	1285	104305											
LRP1	4035	broad.mit.edu	37	chr12	57537482	57537482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctccaaggcaactgctctCgcctgggctgccagcaccat	10	16	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57537482C>T	uc001snd.2	+	4	815	c.349C>T	c.(349-351)CGC>TGC	p.R117C	LRP1_uc010sre.1_Missense_Mutation_p.R117C|LRP1_uc001snb.2_Missense_Mutation_p.R117C|LRP1_uc001snc.1_Missense_Mutation_p.R117C	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	117	EGF-like 1.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAACTGCTCTCGCCTGGGCTG	0.602													T	57537482	C	T	57537482	3	4	191	1	0	0	0	0	1	0	0	0	8951	884	31	1	363	1	LRP1	12	57537482	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2498472	57537482	76314413	1286	104306											
LRP1	4035	broad.mit.edu	37	chr12	57577935	57577935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctcaatggctccttccgCtacgtggtgatctcccaggg	12	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57577935C>A	uc001snd.2	+	37	6463	c.5997C>A	c.(5995-5997)CGC>CGA	p.R1999R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1999	LDL-receptor class B 18.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTCCTTCCGCTACGTGGTGA	0.597													A	57577935	C	A	57577935	2	1	191	1	0	0	0	0	0	0	0	1	8951	784	28	5		5	LRP1	12	57577935	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	40453	57577935	76273960	1287	104307											
LRP1	4035	broad.mit.edu	37	chr12	57602495	57602495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccttctccctccccaggAccatgtactggtcagactgg	8	17	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57602495A>G	uc001snd.2	+	78	12506	c.12040A>G	c.(12040-12042)ACC>GCC	p.T4014A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4014	LDL-receptor class B 33.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCCCAGGACCATGTACTG	0.637													G	57602495	A	G	57602495	3	3	191	1	0	0	0	0	1	0	0	0	8951	289	10	3	12350	3	LRP1	12	57602495	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	24560	57602495	76249400	1288	104308											
SHMT2	6472	broad.mit.edu	37	chr12	57627077	57627077	+	Frame_Shift_Del	DEL	G	G	-													gccgtgttcccatccctgcaGgggggcccccacaatcatgc					rs35603162		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57627076_57627076AG>A	uc001snf.2	+	7	1177	c.971_971AG>A	c.(970-972)cagfs	p.Q324fs	SHMT2_uc001snh.2_Frame_Shift_Del_p.Q326fs|SHMT2_uc009zpk.2_Frame_Shift_Del_p.Q314fs|SHMT2_uc001sng.2_Frame_Shift_Del_p.Q220fs|SHMT2_uc001sni.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc010srg.2_Frame_Shift_Del_p.Q333fs|SHMT2_uc010srh.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snj.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010sri.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snk.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324						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)	CCATCCCTGCAGGGGGGCCCC	0.587													-	57627077	G	-	57627077	7	5	191	1	0	1	0	1	0	0	0	0	14286	991	35	0	1002	0	SHMT2	12	57627077	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	24582	57627077	76224818	1289	104309											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	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)			CGTGTGCCACTGGGGGGGCTG	0.597													-	57860075	G	-	57860075	7	5	191	1	0	1	0	1	0	0	0	0	6437	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	232998	57860075	75991820	1290	104310											
MBD6	114785	broad.mit.edu	37	chr12	57920916	57920916	+	Frame_Shift_Del	DEL	T	T	-													gggagacctgtcccccctacTtttccccccactttcagccc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57920915_57920915CT>C	uc001soj.1	+	6	2211	c.1987_1987CT>C	c.(1987-1989)cttfs	p.L663fs	MBD6_uc001sok.1_Frame_Shift_Del_p.L530fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	663	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCCCCCCTACTTTTCCCCCC	0.652													-	57920916	T	-	57920916	7	5	191	1	0	1	0	1	0	0	0	0	9348	1609	56	0	2006	0	MBD6	12	57920916	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	60841	57920916	75930979	1291	104311											
MBD6	114785	broad.mit.edu	37	chr12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G													ggggctgcagctcctccctgINSgggggggagctcctccaccc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629													G	57921733	-	G	57921732	7	5	191	1	0	1	1	0	0	0	0	0	9348	1348	47	0	2364	0	MBD6	12	57921732	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	816	57921732	75930163	1292	104312											
AGAP2	116986	broad.mit.edu	37	chr12	58124639	58124639	+	Frame_Shift_Del	DEL	C	C	-													cgttaatgctggctgaggggCcaaaggcagagatggccctc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:58124639delC	uc001spq.2	-	11	2243	c.2243delG	c.(2242-2244)GGCfs	p.G748fs	AGAP2_uc001spp.2_Frame_Shift_Del_p.G748fs|AGAP2_uc001spr.2_Frame_Shift_Del_p.G412fs	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	748	PH.				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			central_nervous_system(3)|breast(2)	5						GGCTGAGGGGCCAAAGGCAGA	0.572													-	58124639	C	-	58124639	7	5	191	1	0	1	0	1	0	0	0	0	368	739	26	0	1371	0	AGAP2	12	58124639	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	202907	58124639	75727256	1293	104313	499	2									
AGAP2	116986	broad.mit.edu	37	chr12	58124646	58124646	+	Missense_Mutation	SNP	C	C	T													gctggctgaggggccaaaggCagagatggccctcgggggcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:58124646C>T	uc001spq.2	-	11	2236	c.2236G>A	c.(2236-2238)GCC>ACC	p.A746T	AGAP2_uc001spp.2_Missense_Mutation_p.A746T|AGAP2_uc001spr.2_Missense_Mutation_p.A410T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	746	PH.				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			central_nervous_system(3)|breast(2)	5						GGGCCAAAGGCAGAGATGGCC	0.577													T	58124646	C	T	58124646	3	4	191	1	0	0	0	0	1	0	0	0	368	710	25	2	1378	2	AGAP2	12	58124646	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7	58124646	75727249	1294	104314	499	2									
FAM119B	25895	broad.mit.edu	37	chr12	58174183	58174183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccctgcaaactatgaCctggtgctgggggctgatat	12	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:58174183C>T	uc001sqg.2	+	3	560	c.435C>T	c.(433-435)GAC>GAT	p.D145D	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	145						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAAACTATGACCTGGTGCTGG	0.612													T	58174183	C	T	58174183	2	4	191	1	0	0	0	0	0	0	0	1	5414	506	18	4		4	FAM119B	12	58174183	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	49537	58174183	75677712	1295	104315											
USP15	9958	broad.mit.edu	37	chr12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-													gtgtggagtataaacctcctAaaaaaccctttgtgaaatta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:62786090_62786090TA>T	uc001src.2	+	17	2418	c.2343_2343TA>T	c.(2341-2343)cctfs	p.P781fs	USP15_uc001srb.2_Frame_Shift_Del_p.P752fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	781					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)		ATAAACCTCCTAAAAAACCCT	0.303													-	62786091	A	-	62786091	7	5	191	1	0	1	0	1	0	0	0	0	17043	363	13	0	2323	0	USP15	12	62786091	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	4611908	62786091	71065804	1296	104316											
MON2	23041	broad.mit.edu	37	chr12	62943525	62943525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacaatgccttgtacttGcctgcaaatagttgtagatg	8	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:62943525G>A	uc001sre.2	+	23	3222	c.2831G>A	c.(2830-2832)TGC>TAC	p.C944Y	MON2_uc009zqj.2_Missense_Mutation_p.C944Y|MON2_uc010ssl.1_Missense_Mutation_p.C872Y|MON2_uc010ssm.1_Missense_Mutation_p.C921Y|MON2_uc010ssn.1_Missense_Mutation_p.C944Y|MON2_uc001srf.2_Missense_Mutation_p.C707Y	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	945					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTTGTACTTGCCTGCAAATA	0.368													A	62943525	G	A	62943525	3	1	191	1	0	0	0	0	1	0	0	0	9700	1319	46	2	2921	2	MON2	12	62943525	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	157434	62943525	70908370	1297	104317											
PPM1H	57460	broad.mit.edu	37	chr12	63195794	63195794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggcaggtagggggcagGacggcggagttcttcaggat	18	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:63195794G>A	uc001srk.3	-	3	707	c.558C>T	c.(556-558)GTC>GTT	p.V186V		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	186	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TAGGGGGCAGGACGGCGGAGT	0.721													A	63195794	G	A	63195794	2	1	191	1	0	0	0	0	0	0	0	1	12341	1161	41	4		4	PPM1H	12	63195794	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	252269	63195794	70656101	1298	104318											
GNS	2799	broad.mit.edu	37	chr12	65113872	65113872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacatcattaaccgatagtTcatctttcctaaaagctctg	4	10	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:65113872T>C	uc001ssg.3	-	13	1680	c.1510A>G	c.(1510-1512)AAC>GAC	p.N504D	GNS_uc001ssf.2_Missense_Mutation_p.N448D|GNS_uc010ssq.1_Missense_Mutation_p.N536D|GNS_uc010ssr.1_Missense_Mutation_p.N484D	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	504						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AACCGATAGTTCATCTTTCCT	0.448													C	65113872	T	C	65113872	3	2	191	1	0	0	0	0	1	0	0	0	6550	1783	62	3	156	3	GNS	12	65113872	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1918078	65113872	68738023	1299	104319											
GRIP1	23426	broad.mit.edu	37	chr12	66839111	66839111	+	Frame_Shift_Del	DEL	G	G	-													aagtgtctcacctctctgctGggctgtcagcttcgatatag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:66839110_66839110TG>T	uc001stk.3	-	10	1618	c.1377_1377CA>A	c.(1375-1377)ccafs	p.P459fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.P403fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.P241fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.P459fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.P351fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	511					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)		ACCTCTCTGCTGGGCTGTCAG	0.453													-	66839111	G	-	66839111	7	5	191	1	0	1	0	1	0	0	0	0	6787	1348	47	0	1910	0	GRIP1	12	66839111	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1725239	66839111	67012784	1300	104320											
CAND1	55832	broad.mit.edu	37	chr12	67692780	67692780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccattataaatatttgtcTtaaatatcttacctatgatc	2	7	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:67692780T>C	uc001stn.2	+	7	1342	c.905T>C	c.(904-906)CTT>CCT	p.L302P	CAND1_uc001sto.2_5'UTR	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	302	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			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)		AATATTTGTCTTAAATATCTT	0.219													C	67692780	T	C	67692780	3	2	191	1	0	0	0	0	1	0	0	0	2615	1609	56	3	931	3	CAND1	12	67692780	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	853669	67692780	66159115	1301	104321											
TSPAN8	7103	broad.mit.edu	37	chr12	71531789	71531789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcactttcccctgtggCgctcaaaagctttgtgtttt	7	10	2	0	rs148575105		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:71531789C>T	uc009zrt.1	-	5	550	c.388G>A	c.(388-390)GCC>ACC	p.A130T	TSPAN8_uc001swk.1_Missense_Mutation_p.A130T|TSPAN8_uc001swj.1_Missense_Mutation_p.A130T	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	130	Extracellular (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCCTGTGGCGCTCAAAAGC	0.343													T	71531789	C	T	71531789	3	4	191	1	0	0	0	0	1	0	0	0	16650	768	27	1	341	1	TSPAN8	12	71531789	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3839009	71531789	62320106	1302	104322											
TMTC2	160335	broad.mit.edu	37	chr12	83379735	83379735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgtttaagcaaactcccCgaagcagagcattggtatat	9	9	0	1	rs148211417		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:83379735C>T	uc001szt.2	+	8	2412	c.1980C>T	c.(1978-1980)CCC>CCT	p.P660P	TMTC2_uc001szs.1_Silent_p.P660P|TMTC2_uc010suk.1_Silent_p.P415P	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	660	TPR 6.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						GCAAACTCCCCGAAGCAGAGC	0.433													T	83379735	C	T	83379735	2	4	191	1	0	0	0	0	0	0	0	1	16258	639	23	1		1	TMTC2	12	83379735	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	11847946	83379735	50472160	1303	104323											
SLC6A15	55117	broad.mit.edu	37	chr12	85285889	85285889	+	Frame_Shift_Del	DEL	T	T	-													ctctttttaccaccttgctaTttttgggcattggagagtat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:85285888_85285888AT>A	uc001szv.3	-	1	505	c.12_12AT>T	c.(10-12)aatfs	p.N4fs	SLC6A15_uc010sul.2_Intron|SLC6A15_uc001szy.3_Frame_Shift_Del_p.N4fs	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	4					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CCACCTTGCTATTTTTGGGCA	0.333													-	85285889	T	-	85285889	7	5	191	1	0	1	0	1	0	0	0	0	14678	1493	52	0	2339	0	SLC6A15	12	85285889	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1906154	85285889	48566006	1304	104324											
PLXNC1	10154	broad.mit.edu	37	chr12	94562942	94562942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagaaagaaggggatcAacctgaaagagtccaaccaa	10	8	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:94562942A>G	uc001tdc.2	+	2	1325	c.1076A>G	c.(1075-1077)CAA>CGA	p.Q359R		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	359	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAAGGGGATCAACCTGAAAGA	0.383													G	94562942	A	G	94562942	3	3	191	1	0	0	0	0	1	0	0	0	12126	130	5	3	1082	3	PLXNC1	12	94562942	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	9277053	94562942	39288953	1305	104325											
APAF1	317	broad.mit.edu	37	chr12	99126270	99126270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcttaagaaaatacacGtgtcccctgacttcaaaaca	4	12	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:99126270G>A	uc001tfz.2	+	27	4250	c.3673G>A	c.(3673-3675)GTG>ATG	p.V1225M	APAF1_uc001tfy.2_Missense_Mutation_p.V1214M|APAF1_uc001tga.2_Missense_Mutation_p.V1171M|APAF1_uc001tgb.2_Missense_Mutation_p.V1182M|APAF1_uc001tgc.2_3'UTR|APAF1_uc009zto.2_Missense_Mutation_p.V549M	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	1225					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			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GAAAATACACGTGTCCCCTGA	0.333													A	99126270	G	A	99126270	3	1	191	1	0	0	0	0	1	0	0	0	755	1145	40	1	3775	1	APAF1	12	99126270	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4563328	99126270	34725625	1306	104326											
UTP20	27340	broad.mit.edu	37	chr12	101736764	101736764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgatatcaacttcgacGttcgctttgagactttccag	8	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:101736764G>A	uc001tia.1	+	35	4498	c.4342G>A	c.(4342-4344)GTT>ATT	p.V1448I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1448					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			ovary(2)|breast(2)	4						CAACTTCGACGTTCGCTTTGA	0.328													A	101736764	G	A	101736764	3	1	191	1	0	0	0	0	1	0	0	0	17096	1145	40	1	4480	1	UTP20	12	101736764	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2610494	101736764	32115131	1307	104327											
SPIC	121599	broad.mit.edu	37	chr12	101880330	101880330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggcactcagaaattaCggaagaagtggggaaattac	13	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:101880330C>T	uc001tid.2	+	6	687	c.528C>T	c.(526-528)TAC>TAT	p.Y176Y	SPIC_uc009zua.2_Silent_p.Y51Y|SPIC_uc010svp.1_Silent_p.Y175Y	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	176	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCAGAAATTACGGAAGAAGTG	0.448													T	101880330	C	T	101880330	2	4	191	1	0	0	0	0	0	0	0	1	15050	547	19	1		1	SPIC	12	101880330	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	143566	101880330	31971565	1308	104328											
STAB2	55576	broad.mit.edu	37	chr12	104044321	104044321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgggacccttcacggtgCtgttacctacagacaaggga	12	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:104044321C>A	uc001tjw.2	+	11	1408	c.1222C>A	c.(1222-1224)CTG>ATG	p.L408M		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	408	Extracellular (Potential).|FAS1 1.				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			ovary(9)|skin(5)	14						CTTCACGGTGCTGTTACCTAC	0.443													A	104044321	C	A	104044321	3	1	191	1	0	0	0	0	1	0	0	0	15237	796	28	5	1264	5	STAB2	12	104044321	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2163991	104044321	29807574	1309	104329											
STAB2	55576	broad.mit.edu	37	chr12	104071360	104071360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggctgccacgacaacGcatcctgtttgtatgtgggt	13	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:104071360G>A	uc001tjw.2	+	25	2962	c.2776G>A	c.(2776-2778)GCA>ACA	p.A926T		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	926	Extracellular (Potential).|EGF-like 9.				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			ovary(9)|skin(5)	14						CCACGACAACGCATCCTGTTT	0.572													A	104071360	G	A	104071360	3	1	191	1	0	0	0	0	1	0	0	0	15237	1087	38	1	2874	1	STAB2	12	104071360	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	27039	104071360	29780535	1310	104330											
NUAK1	9891	broad.mit.edu	37	chr12	106532257	106532257	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtgcctttgcccagggtctCctgcagctcgtagcggtgct	14	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:106532257C>A	uc001tlj.1	-	1	1555	c.175G>T	c.(175-177)GAG>TAG	p.E59*		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	59	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCCAGGGTCTCCTGCAGCTCG	0.672													A	106532257	C	A	106532257	4	1	191	1	0	0	0	0	0	1	0	0	10712	864	30	5	1838	5	NUAK1	12	106532257	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2460897	106532257	27319638	1311	104331											
C12orf34	84915	broad.mit.edu	37	chr12	110206229	110206229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccccaagccacctgaggcGcctgctccaccacccggcct	8	21	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110206229G>A	uc001tpd.1	+	3	1054	c.495G>A	c.(493-495)GCG>GCA	p.A165A	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Silent_p.A165A	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	165	Pro-rich.									ovary(1)	1						CACCTGAGGCGCCTGCTCCAC	0.731													A	110206229	G	A	110206229	2	1	191	1	0	0	0	0	0	0	0	1	1681	1074	38	1		1	C12orf34	12	110206229	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3673972	110206229	23645666	1312	104332											
TCHP	84260	broad.mit.edu	37	chr12	110340853	110340853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctcccgacgctgccgTcctactggtgcagccagcag	13	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110340853T>C	uc001tpn.2	+	2	175	c.22T>C	c.(22-24)TCC>CCC	p.S8P	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.S8P	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	8					apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						GACGCTGCCGTCCTACTGGTG	0.602													C	110340853	T	C	110340853	3	2	191	1	0	0	0	0	1	0	0	0	15699	1667	58	3	24	3	TCHP	12	110340853	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	134624	110340853	23511042	1313	104333											
GIT2	9815	broad.mit.edu	37	chr12	110421431	110421431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggatgaaagaagttggcTtgtgctcctaaagataacag	11	6	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110421431T>G	uc001tps.2	-	5	639	c.474A>C	c.(472-474)CAA>CAC	p.Q158H	GIT2_uc001tpq.2_Missense_Mutation_p.Q158H|GIT2_uc001tpv.2_Missense_Mutation_p.Q158H|GIT2_uc001tpu.2_Missense_Mutation_p.Q158H|GIT2_uc001tpt.2_Missense_Mutation_p.Q158H|GIT2_uc010sxu.1_Missense_Mutation_p.Q96H|GIT2_uc001tpw.2_Missense_Mutation_p.Q158H|GIT2_uc010sxv.1_Missense_Mutation_p.Q158H	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	158	ANK 1.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						AGAAGTTGGCTTGTGCTCCTA	0.383													G	110421431	T	G	110421431	3	3	191	1	0	0	0	0	1	0	0	0	6397	1606	56	5	1907	5	GIT2	12	110421431	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	80578	110421431	23430464	1314	104334											
ATP2A2	488	broad.mit.edu	37	chr12	110783139	110783139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccccatacccgatgacaaTggcgctctctgttctagtaa	7	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110783139T>C	uc001tqk.3	+	18	3256	c.2693T>C	c.(2692-2694)ATG>ACG	p.M898T	ATP2A2_uc001tql.3_Missense_Mutation_p.M898T|ATP2A2_uc010sxy.1_Missense_Mutation_p.M871T|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	898	Helical; Name=8; (By similarity).				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			ovary(3)|skin(1)	4						CCGATGACAATGGCGCTCTCT	0.498													C	110783139	T	C	110783139	3	2	191	1	0	0	0	0	1	0	0	0	1137	1464	51	3	2763	3	ATP2A2	12	110783139	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	361708	110783139	23068756	1315	104335											
VPS29	51699	broad.mit.edu	37	chr12	110929816	110929816	+	Frame_Shift_Del	DEL	T	T	-													agacaggcctggctttaaggTtttttgtattcgattcgttc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110929815_110929815GT>G	uc001tqy.3	-	3	604	c.544_544AC>C	c.(544-546)cctfs	p.P182fs	VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Frame_Shift_Del_p.P186fs|VPS29_uc001tqz.3_Non-coding_Transcript	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.	182					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGGCTTTAAGGTTTTTTGTAT	0.343													-	110929816	T	-	110929816	7	5	191	1	0	1	0	1	0	0	0	0	17197	1722	60	0	9	0	VPS29	12	110929816	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	146677	110929816	22922079	1316	104336											
ACAD10	80724	broad.mit.edu	37	chr12	112185167	112185167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcttctatgtcataaaCggtcacaaatggtggatcac	9	9	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:112185167C>T	uc001tsq.2	+	16	2663	c.2463C>T	c.(2461-2463)AAC>AAT	p.N821N	ACAD10_uc001tsp.2_Silent_p.N821N|ACAD10_uc009zvx.2_Silent_p.N852N|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	821							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						ATGTCATAAACGGTCACAAAT	0.502													T	112185167	C	T	112185167	2	4	191	1	0	0	0	0	0	0	0	1	108	535	19	1		1	ACAD10	12	112185167	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1255351	112185167	21666728	1317	104337											
ERP29	10961	broad.mit.edu	37	chr12	112460088	112460088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcagttaaggttggaGccatccagcgctggctgaag	16	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:112460088G>A	uc001ttk.1	+	3	536	c.418G>A	c.(418-420)GCC>ACC	p.A140T	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	140					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0						TAAGGTTGGAGCCATCCAGCG	0.577													A	112460088	G	A	112460088	3	1	191	1	0	0	0	0	1	0	0	0	5242	971	34	2	428	2	ERP29	12	112460088	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	274921	112460088	21391807	1318	104338											
LHX5	64211	broad.mit.edu	37	chr12	113906172	113906172	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtcctgcagtgcgtcctgGaggtccggggacaaactgcg	15	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:113906172G>A	uc001tvj.1	-	3	1009	c.435C>T	c.(433-435)CTC>CTT	p.L145L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTGCGTCCTGGAGGTCCGGGG	0.642													A	113906172	G	A	113906172	2	1	191	1	0	0	0	0	0	0	0	1	8774	1161	41	4		4	LHX5	12	113906172	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1446084	113906172	19945723	1319	104339											
TBX5	6910	broad.mit.edu	37	chr12	114841604	114841604	+	Frame_Shift_Del	DEL	C	C	-													cgacggggacttgctgggggCcccgagcgcgctctcgggtt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:114841603_114841603GC>G	uc001tvo.3	-	1	596	c.101_101GC>C	c.(100-102)gccfs	p.A34fs	TBX5_uc001tvp.3_Frame_Shift_Del_p.A34fs|TBX5_uc001tvq.3_Intron|TBX5_uc010syv.2_Frame_Shift_Del_p.A34fs	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	34				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)		CTTGCTGGGGGCCCCGAGCGC	0.657													-	114841604	C	-	114841604	7	5	191	1	0	1	0	1	0	0	0	0	15658	739	26	0	1555	0	TBX5	12	114841604	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	935432	114841604	19010291	1320	104340											
MED13L	23389	broad.mit.edu	37	chr12	116408482	116408482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgggaacaccaagatgTgtgtacaagaagcatcttga	11	6	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:116408482T>C	uc001tvw.2	-	27	6039	c.5984A>G	c.(5983-5985)CAC>CGC	p.H1995R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1995					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CACCAAGATGTGTGTACAAGA	0.478													C	116408482	T	C	116408482	3	2	191	1	0	0	0	0	1	0	0	0	9431	1696	59	3	668	3	MED13L	12	116408482	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1566878	116408482	17443413	1321	104341											
TESC	54997	broad.mit.edu	37	chr12	117494684	117494684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccgggacattgttgaagtTctccttgctggtttccaaga	11	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:117494684T>C	uc001twh.2	-	3	300	c.295A>G	c.(295-297)AAC>GAC	p.N99D	TESC_uc001twi.2_RNA	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	tescalcin	46					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TTGTTGAAGTTCTCCTTGCTG	0.493													C	117494684	T	C	117494684	3	2	191	1	0	0	0	0	1	0	0	0	15763	1783	62	3	532	3	TESC	12	117494684	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1086202	117494684	16357211	1322	104342											
NOS1	4842	broad.mit.edu	37	chr12	117672429	117672429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggttgacaggcggcGcgtcctccagccgctcgatc	12	16	1	1	rs56266548		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:117672429G>A	uc001twm.1	-	21	3862	c.3176C>T	c.(3175-3177)GCG>GTG	p.A1059V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1059	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GACAGGCGGCGCGTCCTCCAG	0.627													A	117672429	G	A	117672429	3	1	191	1	0	0	0	0	1	0	0	0	10541	1087	38	1	1164	1	NOS1	12	117672429	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	177745	117672429	16179466	1323	104343											
WSB2	55884	broad.mit.edu	37	chr12	118474213	118474213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatcgtaagaagccgtgaCaagcagggcagagtcggggg	18	7	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:118474213C>T	uc001twr.2	-	6	861	c.763G>A	c.(763-765)GTC>ATC	p.V255I	WSB2_uc010sza.1_Missense_Mutation_p.V30I|WSB2_uc010szb.1_Missense_Mutation_p.V45I|WSB2_uc009zws.1_Missense_Mutation_p.V255I	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	255	WD 4.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGCCGTGACAAGCAGGGCA	0.502													T	118474213	C	T	118474213	3	4	191	1	0	0	0	0	1	0	0	0	17402	478	17	4	467	4	WSB2	12	118474213	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	801784	118474213	15377682	1324	104344											
KDM2B	84678	broad.mit.edu	37	chr12	121951203	121951203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaacggaatttgggctgCacctgaaagcaaagacgcag	14	8	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:121951203C>T	uc001uat.2	-	10	1154	c.1050G>A	c.(1048-1050)GTG>GTA	p.V350V	KDM2B_uc001uas.2_Silent_p.V319V|KDM2B_uc001uau.2_Silent_p.V233V|KDM2B_uc001uav.3_Silent_p.V260V	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	350					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			ovary(1)|skin(1)	2						ATTTGGGCTGCACCTGAAAGC	0.577													T	121951203	C	T	121951203	2	4	191	1	0	0	0	0	0	0	0	1	8125	697	25	2		2	KDM2B	12	121951203	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3476990	121951203	11900692	1325	104345											
LRRC43	254050	broad.mit.edu	37	chr12	122676072	122676072	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctatgattttgtgaaagaTgaagaaggcgaaatgaatga	11	3	0	7			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:122676072T>C	uc009zxm.2	+	6	1072	c.1047T>C	c.(1045-1047)GAT>GAC	p.D349D	LRRC43_uc001ubw.3_Silent_p.D164D|LRRC43_uc009zxn.2_Silent_p.D110D	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	349											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TTGTGAAAGATGAAGAAGGCG	0.537											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	122676072	T	C	122676072	2	2	191	1	0	0	0	0	0	0	0	1	9001	1461	51	3		3	LRRC43	12	122676072	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	724869	122676072	11175823	1326	104346											
KNTC1	9735	broad.mit.edu	37	chr12	123055441	123055441	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agataattcttgcaaaatggTtggaacaagcagccaggaac	10	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:123055441T>C	uc001ucv.2	+	23	2042	c.1879T>C	c.(1879-1881)TTG>CTG	p.L627L	KNTC1_uc010taf.1_Silent_p.L590L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	627					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		TGCAAAATGGTTGGAACAAGC	0.299													C	123055441	T	C	123055441	2	2	191	1	0	0	0	0	0	0	0	1	8428	1722	60	3		3	KNTC1	12	123055441	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	379369	123055441	10796454	1327	104347											
GPR81	27198	broad.mit.edu	37	chr12	123214828	123214828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggccacaatgagcagcGgcggcatcacctgggagatg	14	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:123214828G>A	uc001ucz.2	-	1	302	c.59C>T	c.(58-60)CCG>CTG	p.P20L	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	20	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AATGAGCAGCGGCGGCATCAC	0.622													A	123214828	G	A	123214828	3	1	191	1	0	0	0	0	1	0	0	0	6711	1116	39	1	985	1	GPR81	12	123214828	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	159387	123214828	10637067	1328	104348											
EIF2B1	1967	broad.mit.edu	37	chr12	124106442	124106442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtcttgtccagtctgcGcgaccttgagagtgtctgcc	13	11	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124106442G>A	uc001ufm.2	-	9	922	c.779C>T	c.(778-780)GCG>GTG	p.A260V	EIF2B1_uc001ufn.2_Missense_Mutation_p.A258V	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCCAGTCTGCGCGACCTTGAG	0.522													A	124106442	G	A	124106442	3	1	191	1	0	0	0	0	1	0	0	0	5000	1087	38	1	142	1	EIF2B1	12	124106442	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	891614	124106442	9745453	1329	104349											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124209219	124209219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcagttgcagaagctcGaggttgaactgagagaagtc	15	6	0	4	rs146676679		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124209219G>A	uc001ufr.2	+	4	561	c.313G>A	c.(313-315)GAG>AAG	p.E105K	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.E105K	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	105	Cytoplasmic (Potential).				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			ovary(2)	2	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)		GCAGAAGCTCGAGGTTGAACT	0.388													A	124209219	G	A	124209219	3	1	191	1	0	0	0	0	1	0	0	0	1169	1059	37	1	327	1	ATP6V0A2	12	124209219	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	102777	124209219	9642676	1330	104350											
DNAH10	196385	broad.mit.edu	37	chr12	124284938	124284938	+	Splice_Site	DEL	A	A	-													ggaagacaaattccttaggtAaaaaaattcttcttttaaat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124284937_124284937TA>T	uc001uft.4	+	14	2133	c.2108_splice	c.e14+2	p.R703_splice	DNAH10_uc010tav.1_Splice_Site_p.R245_splice|DNAH10_uc010taw.1_Splice_Site_p.R188_splice	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	703	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)		ATTCCTTAGGTAAAAAAATTC	0.363													-	124284938	A	-	124284938	8	5	191	1	0	1	0	1	0	0	1	0	4598	377	13	0		0	DNAH10	12	124284938	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	75719	124284938	9566957	1331	104351											
CCDC92	80212	broad.mit.edu	37	chr12	124421711	124421711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgcggcggggtggcgTggtggatccgatgtgccacc	20	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124421711T>G	uc001ufw.1	-	5	1037	c.890A>C	c.(889-891)CAC>CCC	p.H297P	CCDC92_uc001ufv.1_Missense_Mutation_p.H280P|CCDC92_uc001ufx.1_Missense_Mutation_p.H297P|CCDC92_uc001ufy.1_Missense_Mutation_p.H280P	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	297											0	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)		CGGGGTGGCGTGGTGGATCCG	0.692													G	124421711	T	G	124421711	3	3	191	1	0	0	0	0	1	0	0	0	2871	1696	59	5	109	5	CCDC92	12	124421711	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	136773	124421711	9430184	1332	104352											
SCARB1	949	broad.mit.edu	37	chr12	125294823	125294823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttgcactgatcggaatGccagaagtcaacctgggggg	14	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:125294823G>A	uc001ugo.3	-	6	992	c.739C>T	c.(739-741)CAT>TAT	p.H247Y	SCARB1_uc001ugn.3_Missense_Mutation_p.H247Y|SCARB1_uc001ugm.3_Missense_Mutation_p.H247Y|SCARB1_uc010tbd.1_Missense_Mutation_p.H247Y|SCARB1_uc010tbe.1_Missense_Mutation_p.H206Y|SCARB1_uc001ugp.3_Missense_Mutation_p.H247Y	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	247	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGATCGGAATGCCAGAAGTCA	0.567													A	125294823	G	A	125294823	3	1	191	1	0	0	0	0	1	0	0	0	13881	1319	46	2	942	2	SCARB1	12	125294823	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	873112	125294823	8557072	1333	104353											
DHX37	57647	broad.mit.edu	37	chr12	125449022	125449024	+	In_Frame_Del	DEL	AGG	AGG	-													ggagacccaggtgacacggaAggaggatacgccagtgacgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:125449021_125449023AAGG>A	uc001ugy.3	-	14	2061_2063	c.1962_1964CCTT>T	c.(1960-1965)tccttc>tcTc	p.F655del		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	655	Helicase C-terminal.						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)		GGTGACACGGAAGGAGGATACGC	0.626													-	125449024	AGG	-	125449022	7	5	191	1	0	1	0	1	0	0	0	0	4510	72	3	0	1562	0	DHX37	12	125449022	In_Frame_Del	DEL	AGG	TCGA-CG-5723-01A-11D-1600-08	154199	125449022	8402873	1334	104354											
FZD10	11211	broad.mit.edu	37	chr12	130648515	130648515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccggcaagaagtgggGccacgaggccatcgaagcca	16	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:130648515G>A	uc001uii.2	+	1	1484	c.1028G>A	c.(1027-1029)GGC>GAC	p.G343D	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	343	Cytoplasmic (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		AAGAAGTGGGGCCACGAGGCC	0.647													A	130648515	G	A	130648515	3	1	191	1	0	0	0	0	1	0	0	0	6129	1203	42	2	1030	2	FZD10	12	130648515	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5199493	130648515	3203380	1335	104355											
GPR133	283383	broad.mit.edu	37	chr12	131451073	131451073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggatgggatccatgaaCttcaggatacaactggaggt	13	6	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:131451073C>T	uc001uit.3	+	3	728	c.169C>T	c.(169-171)CTT>TTT	p.L57F	GPR133_uc010tbm.1_Missense_Mutation_p.L57F	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	57	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	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)		GATCCATGAACTTCAGGATAC	0.532													T	131451073	C	T	131451073	3	4	191	1	0	0	0	0	1	0	0	0	6643	565	20	4	179	4	GPR133	12	131451073	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	802558	131451073	2400822	1336	104356											
ZNF10	7556	broad.mit.edu	37	chr12	133733098	133733098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagatctcaccttgttgtGcatcatagaattcacactgg	8	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:133733098G>A	uc009zzb.2	+	5	1713	c.1266G>A	c.(1264-1266)GTG>GTA	p.V422V	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.V422V	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	422	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	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)		ACCTTGTTGTGCATCATAGAA	0.418													A	133733098	G	A	133733098	2	1	191	1	0	0	0	0	0	0	0	1	17709	1306	46	2		2	ZNF10	12	133733098	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2282025	133733098	118797	1337	104357											
CENPJ	55835	broad.mit.edu	37	chr13	25457398	25457398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacttcgtttcttgatgacCgtttgcatatacggttttaa	8	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:25457398C>T	uc001upt.3	-	17	4187	c.3934G>A	c.(3934-3936)GGT>AGT	p.G1312S	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1312					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			ovary(2)	2		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)		TCTTGATGACCGTTTGCATAT	0.443													T	25457398	C	T	25457398	3	4	191	1	0	0	0	0	1	0	0	0	3234	652	23	1	86	1	CENPJ	13	25457398	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08		25457398	89712480	1338	104358											
LNX2	222484	broad.mit.edu	37	chr13	28136599	28136599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccatacttcaggtcgtgcCcattgatggccagcactcgg	10	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:28136599C>A	uc001url.3	-	5	1484	c.1175G>T	c.(1174-1176)GGG>GTG	p.G392V	LNX2_uc001urm.1_Missense_Mutation_p.G392V	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	392	PDZ 2.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		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)		CAGGTCGTGCCCATTGATGGC	0.527													A	28136599	C	A	28136599	3	1	191	1	0	0	0	0	1	0	0	0	8866	623	22	5	921	5	LNX2	13	28136599	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2679201	28136599	87033279	1339	104359											
FLT3	2322	broad.mit.edu	37	chr13	28636133	28636133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatacatccacttccacaGcggcagcttcgtacactgtc	7	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:28636133G>A	uc001urw.2	-	3	321	c.239C>T	c.(238-240)GCT>GTT	p.A80V	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A80V	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	80	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.599_560>LTGSSDNEYFYVDFREYEY(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	CACTTCCACAGCGGCAGCTTC	0.532			Mis|O		AML|ALL								A	28636133	G	A	28636133	3	1	191	1	0	0	0	0	1	0	0	0	5942	971	34	2	2830	2	FLT3	13	28636133	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	499534	28636133	86533745	1340	104360											
FLT1	2321	broad.mit.edu	37	chr13	29008007	29008007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgttcaagggagtggtAgcagtacaattgaggacaag	14	6	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:29008007A>G	uc001usb.3	-	6	1047	c.762T>C	c.(760-762)GCT>GCC	p.A254A	FLT1_uc010aar.1_Silent_p.A254A|FLT1_uc001usc.3_Silent_p.A254A|FLT1_uc010tdp.1_Silent_p.A254A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	254	Extracellular (Potential).|Ig-like C2-type 3.				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	AGGGAGTGGTAGCAGTACAAT	0.423													G	29008007	A	G	29008007	2	3	191	1	0	0	0	0	0	0	0	1	5941	407	15	3		3	FLT1	13	29008007	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	371874	29008007	86161871	1341	104361											
SLC46A3	283537	broad.mit.edu	37	chr13	29286951	29286951	+	Frame_Shift_Del	DEL	A	A	-													atattcctaggaaactagtcAaaaaagaggcactacccaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:29286950_29286950CA>C	uc001usj.3	-	2	1469	c.927_927TG>G	c.(925-927)ttgfs	p.L309fs	SLC46A3_uc001usg.3_Frame_Shift_Del_p.L234fs|SLC46A3_uc001usi.3_Frame_Shift_Del_p.L309fs|SLC46A3_uc001ush.3_Frame_Shift_Del_p.L309fs|SLC46A3_uc001usk.3_Frame_Shift_Del_p.L234fs	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	309					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GGAAACTAGTCAAAAAAGAGG	0.383													-	29286951	A	-	29286951	7	5	191	1	0	1	0	1	0	0	0	0	14646	131	5	0	489	0	SLC46A3	13	29286951	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	278944	29286951	85882927	1342	104362											
SLC46A3	283537	broad.mit.edu	37	chr13	29287374	29287374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagtcaatgatagctattCgaattgttttttgtttgtgt	9	3	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:29287374C>T	uc001usi.2	-	2	1473	c.503G>A	c.(502-504)CGA>CAA	p.R168Q	SLC46A3_uc001usg.2_Missense_Mutation_p.R93Q|SLC46A3_uc001usj.2_Missense_Mutation_p.R168Q|SLC46A3_uc001ush.2_Missense_Mutation_p.R168Q|SLC46A3_uc001usk.2_Missense_Mutation_p.R93Q	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	168	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GATAGCTATTCGAATTGTTTT	0.373													T	29287374	C	T	29287374	3	4	191	1	0	0	0	0	1	0	0	0	14646	884	31	1	912	1	SLC46A3	13	29287374	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	423	29287374	85882504	1343	104363											
FRY	10129	broad.mit.edu	37	chr13	32868578	32868578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcagtcattgcagctgAccctctctattcagacggcg	10	13	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:32868578A>G	uc001utx.2	+	60	9150	c.8654A>G	c.(8653-8655)GAC>GGC	p.D2885G	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.D416G|FRY_uc010tdx.1_Missense_Mutation_p.D255G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		ATTGCAGCTGACCCTCTCTAT	0.493													G	32868578	A	G	32868578	3	3	191	1	0	0	0	0	1	0	0	0	6063	275	10	3	8892	3	FRY	13	32868578	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3581204	32868578	82301300	1344	104364											
BRCA2	675	broad.mit.edu	37	chr13	32972903	32972903	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattacaactaaaaaatataTctaagcatttgcaaaggcga	5	6	1	0	rs80359259		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:32972903T>G	uc001uub.1	+	27	10480	c.10253T>G	c.(10252-10254)ATC>AGC	p.I3418S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3418					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		AAAAAATATATCTAAGCATTT	0.353			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			G	32972903	T	G	32972903	3	3	191	1	0	0	0	0	1	0	0	0	1499	1435	50	5	10355	5	BRCA2	13	32972903	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	104325	32972903	82196975	1345	104365											
PDS5B	23047	broad.mit.edu	37	chr13	33306278	33306278	+	Frame_Shift_Del	DEL	C	C	-													atcacaaatctaaaaaaggaCccccccgtcaagccaaatat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:33306277_33306277AC>A	uc010abf.3	+	19	2349	c.2163_2163AC>A	c.(2161-2163)ggafs	p.G721fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	721					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.R724fs*16(1)		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)		CTAAAAAAGGACCCCCCCGTC	0.338													-	33306278	C	-	33306278	7	5	191	1	0	1	0	1	0	0	0	0	11692	507	18	0	2238	0	PDS5B	13	33306278	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	333375	33306278	81863600	1346	104366											
SPG20	23111	broad.mit.edu	37	chr13	36900787	36900787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctggaactggctcacAtggtacaatgtgactcaggt	10	9	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:36900787A>G	uc001uvn.2	-	6	1483	c.1213T>C	c.(1213-1215)TGT>CGT	p.C405R	SPG20_uc010ten.1_Missense_Mutation_p.C395R|SPG20_uc001uvm.2_Missense_Mutation_p.C405R|SPG20_uc001uvo.2_Missense_Mutation_p.C405R|SPG20_uc001uvq.2_Missense_Mutation_p.C405R|SPG20_uc001uvp.2_Missense_Mutation_p.C405R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	405					cell death	cytoplasm	ubiquitin protein ligase binding				0		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)		ACTGGCTCACATGGTACAATG	0.348													G	36900787	A	G	36900787	3	3	191	1	0	0	0	0	1	0	0	0	15041	217	8	3	807	3	SPG20	13	36900787	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3594509	36900787	78269091	1347	104367											
SMAD9	4093	broad.mit.edu	37	chr13	37439797	37439797	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctatgagcacacttcGggaggaagcctggaatgtct	11	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:37439797G>A	uc001uvw.2	-	5	1223	c.880C>T	c.(880-882)CGA>TGA	p.R294*	SMAD9_uc001uvx.2_Nonsense_Mutation_p.R257*|SMAD9_uc010tep.1_Nonsense_Mutation_p.R87*	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	294	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				0		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)		AGCACACTTCGGGAGGAAGCC	0.473													A	37439797	G	A	37439797	4	1	191	1	0	0	0	0	0	1	0	0	14764	1124	39	1	535	1	SMAD9	13	37439797	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	539010	37439797	77730081	1348	104368											
C13orf23	80209	broad.mit.edu	37	chr13	39603448	39603448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagagcaactagtttgTctttactgaaagtgaaacag	9	6	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:39603448T>G	uc001uwy.2	-	4	1118	c.245A>C	c.(244-246)GAC>GCC	p.D82A	C13orf23_uc001uwz.2_Missense_Mutation_p.D60A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	82										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		AACTAGTTTGTCTTTACTGAA	0.294													G	39603448	T	G	39603448	3	3	191	1	0	0	0	0	1	0	0	0	1721	1667	58	5	2629	5	C13orf23	13	39603448	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2163651	39603448	75566430	1349	104369											
SLC25A15	10166	broad.mit.edu	37	chr13	41379273	41379273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatctgcagaatgcagccGccggttccttcgcctctgcc	11	15	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41379273G>A	uc001uxn.2	+	4	656	c.334G>A	c.(334-336)GCC>ACC	p.A112T	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.A18T|SUGT1L1_uc001uxo.1_RNA	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	112	Helical; Name=3; (Potential).|Solcar 2.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	GAATGCAGCCGCCGGTTCCTT	0.542													A	41379273	G	A	41379273	3	1	191	1	0	0	0	0	1	0	0	0	14477	1087	38	1	344	1	SLC25A15	13	41379273	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1775825	41379273	73790605	1350	104370											
KBTBD6	89890	broad.mit.edu	37	chr13	41705322	41705323	+	Frame_Shift_Ins	INS	-	-	C													ctccagtaatagggtctcgcINSccccccaaaatgtagatata					rs147771080		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41705321_41705322G>GC	uc001uxu.1	-	0	1615_1616	c.1326_1327C>GC	c.(1324-1329)gggcgafs	p.G442fs	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	442							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)		ATAGGGTCTCGCCCCCCCAAAA	0.47													C	41705323	-	C	41705322	7	5	191	1	0	1	1	0	0	0	0	0	7997	726	26	0	702	0	KBTBD6	13	41705322	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	326049	41705322	73464556	1351	104371											
MTRF1	9617	broad.mit.edu	37	chr13	41827154	41827154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatttctcctttggcacaaGgctctggaaaagctggaata	9	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41827154G>T	uc001uxx.2	-	6	990	c.520C>A	c.(520-522)CTT>ATT	p.L174I	MTRF1_uc001uxy.2_Missense_Mutation_p.L174I|MTRF1_uc001uxz.2_Missense_Mutation_p.L10I|MTRF1_uc010tff.1_Missense_Mutation_p.L187I|MTRF1_uc001uyc.1_Missense_Mutation_p.L174I	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	174					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		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)		TTTGGCACAAGGCTCTGGAAA	0.333													T	41827154	G	T	41827154	3	4	191	1	0	0	0	0	1	0	0	0	9959	1000	35	5	845	5	MTRF1	13	41827154	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	121832	41827154	73342724	1352	104372											
NAA16	79612	broad.mit.edu	37	chr13	41943362	41943362	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaaaaaaagagatgaAgaagaagaagaagccagtgg	12	3	0	7			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41943362A>T	uc001uyf.2	+	15	2214	c.1890A>T	c.(1888-1890)GAA>GAT	p.E630D	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	630					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						aaagagatgaagaagaagaag	0.219													T	41943362	A	T	41943362	3	4	191	1	0	0	0	0	1	0	0	0	10119	69	3	5	1981	5	NAA16	13	41943362	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	116208	41943362	73226516	1353	104373											
SLC25A30	253512	broad.mit.edu	37	chr13	45980026	45980026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccactcaccttctgggCgttcaatgaatagtcgcttc	7	14	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:45980026C>T	uc001vag.2	-	4	436	c.299G>A	c.(298-300)CGC>CAC	p.R100H	SLC25A30_uc010tfs.1_Missense_Mutation_p.R25H|SLC25A30_uc001vah.2_Missense_Mutation_p.R25H|SLC25A30_uc010tft.1_Missense_Mutation_p.R49H|SLC25A30_uc001vaf.2_5'Flank	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	100					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ACCTTCTGGGCGTTCAATGAA	0.473													T	45980026	C	T	45980026	3	4	191	1	0	0	0	0	1	0	0	0	14494	768	27	1	604	1	SLC25A30	13	45980026	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4036664	45980026	69189852	1354	104374											
ZC3H13	23091	broad.mit.edu	37	chr13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-													tcacctttggattttttacgTtttttttcaatgcttttctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:46543660_46543660GT>G	uc010tfw.1	-	12	3025	c.3019_3019AC>C	c.(3019-3021)cgtfs	p.R1007fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.R1007fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.R1007fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1007	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		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)		GATTTTTTACGTTTTTTTTCA	0.373													-	46543661	T	-	46543661	7	5	191	1	0	1	0	1	0	0	0	0	17562	1722	60	0	1692	0	ZC3H13	13	46543661	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	563635	46543661	68626217	1355	104375											
RB1	5925	broad.mit.edu	37	chr13	48919235	48919235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccataaattctttaacTtactaaaagaaattgatacc	4	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:48919235T>G	uc001vcb.2	+	4	566	c.400T>G	c.(400-402)TTA>GTA	p.L134V	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	134					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.?(5)|p.L134fs*1(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		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)	ATTCTTTAACTTACTAAAAGA	0.284		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)			G	48919235	T	G	48919235	3	3	191	1	0	0	0	0	1	0	0	0	13098	1606	56	5	414	5	RB1	13	48919235	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2375574	48919235	66250643	1356	104376											
SERPINE3	647174	broad.mit.edu	37	chr13	51936035	51936035	+	Missense_Mutation	SNP	A	A	G													gagaacctaacacaggtattAcagtattttttgacaggatt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:51936035A>G	uc001vfh.2	+	7	1237	c.1177A>G	c.(1177-1179)ACA>GCA	p.T393A	SERPINE3_uc010tgp.1_Intron|INTS6_uc001vfi.2_3'UTR|INTS6_uc001vfj.2_3'UTR|INTS6_uc001vfk.2_3'UTR|INTS6_uc001vfl.2_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	393					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CACAGGTATTACAGTATTTTT	0.383													G	51936035	A	G	51936035	3	3	191	1	0	0	0	0	1	0	0	0	14113	391	14	3	1203	3	SERPINE3	13	51936035	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3016800	51936035	63233843	1357	104377	500	2									
SERPINE3	647174	broad.mit.edu	37	chr13	51936041	51936041	+	Frame_Shift_Del	DEL	T	T	-													ctaacacaggtattacagtaTtttttgacaggattcagata							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:51936040_51936040AT>A	uc001vfh.2	+	6	1242	c.1182_1182AT>A	c.(1180-1182)gtafs	p.V394fs	SERPINE3_uc010tgp.2_Intron|INTS6_uc001vfi.3_3'UTR|INTS6_uc001vfj.3_3'UTR|INTS6_uc001vfk.3_3'UTR|INTS6_uc001vfl.3_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	394					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GTATTACAGTATTTTTTGACA	0.378													-	51936041	T	-	51936041	7	5	191	1	0	1	0	1	0	0	0	0	14113	1493	52	0	1209	0	SERPINE3	13	51936041	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	6	51936041	63233837	1358	104378	500	2									
PCDH17	27253	broad.mit.edu	37	chr13	58208186	58208186	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggatcccgacctgggCcagaacggcaccgtatccta	11	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:58208186C>G	uc001vhq.1	+	1	2398	c.1506C>G	c.(1504-1506)GGC>GGG	p.G502G	PCDH17_uc010aec.1_Silent_p.G502G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	502	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGACCTGGGCCAGAACGGCA	0.597													G	58208186	C	G	58208186	2	3	191	1	0	0	0	0	0	0	0	1	11512	726	26	5		5	PCDH17	13	58208186	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6272145	58208186	56961692	1359	104379											
PCDH17	27253	broad.mit.edu	37	chr13	58208609	58208609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcgacccgtccagcggCgagatccgcacgctgcaccc	12	17	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:58208609C>T	uc001vhq.1	+	1	2821	c.1929C>T	c.(1927-1929)GGC>GGT	p.G643G	PCDH17_uc010aec.1_Silent_p.G643G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	643	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGTCCAGCGGCGAGATCCGCA	0.657													T	58208609	C	T	58208609	2	4	191	1	0	0	0	0	0	0	0	1	11512	755	27	1		1	PCDH17	13	58208609	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	423	58208609	56961269	1360	104380											
DACH1	1602	broad.mit.edu	37	chr13	72146986	72146986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaccttaataactgatgTctcaactctggatgggggac	9	8	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:72146986T>C	uc010thn.1	-	5	1708	c.1285A>G	c.(1285-1287)ACA>GCA	p.T429A	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	481					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATAACTGATGTCTCAACTCTG	0.403													C	72146986	T	C	72146986	3	2	191	1	0	0	0	0	1	0	0	0	4220	1667	58	3	867	3	DACH1	13	72146986	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	13938377	72146986	43022892	1361	104381											
TBC1D4	9882	broad.mit.edu	37	chr13	75901914	75901914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcaagactgttggaccGttcaaaactgtccacacttc	8	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:75901914G>A	uc001vjl.1	-	9	2127	c.1780C>T	c.(1780-1782)CGG>TGG	p.R594W	TBC1D4_uc010aer.2_Missense_Mutation_p.R594W|TBC1D4_uc010aes.2_Missense_Mutation_p.R594W	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	594						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGTTGGACCGTTCAAAACTG	0.393													A	75901914	G	A	75901914	3	1	191	1	0	0	0	0	1	0	0	0	15619	1144	40	1	2168	1	TBC1D4	13	75901914	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3754928	75901914	39267964	1362	104382											
UCHL3	7347	broad.mit.edu	37	chr13	76179898	76179898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaagaagtttatggagCgcgaccctgatgaactaaga	11	7	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:76179898C>T	uc001vjq.2	+	9	673	c.643C>T	c.(643-645)CGC>TGC	p.R215C	UCHL3_uc001vjr.2_Missense_Mutation_p.R179C	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	215					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		GTTTATGGAGCGCGACCCTGA	0.323													T	76179898	C	T	76179898	3	4	191	1	0	0	0	0	1	0	0	0	16918	768	27	1	677	1	UCHL3	13	76179898	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	277984	76179898	38989980	1363	104383											
MYCBP2	23077	broad.mit.edu	37	chr13	77641917	77641917	+	Frame_Shift_Del	DEL	G	G	-													tgatatcactgatatctgctGgggggagggatttcactcct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:77641916_77641916TG>T	uc021rks.1	-	70	12522	c.12255_12255CA>A	c.(12253-12255)ccafs	p.P4085fs	MYCBP2_uc010aev.3_Frame_Shift_Del_p.P3451fs|MYCBP2_uc001vke.3_Frame_Shift_Del_p.P664fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4047					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)		TGATATCTGCTGGGGGGAGGG	0.438													-	77641917	G	-	77641917	7	5	191	1	0	1	0	1	0	0	0	0	10018	1348	47	0	1834	0	MYCBP2	13	77641917	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1462019	77641917	37527961	1364	104384											
ABCC4	10257	broad.mit.edu	37	chr13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-													tcacatctcttgacgtttccAaaaaatatcgccgaagaaaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:95735431_95735431CA>C	uc001vmd.4	-	20	2768	c.2649_2649TG>G	c.(2647-2649)ttgfs	p.L883fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	883	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)	TTGACGTTTCCAAAAAATATC	0.438													-	95735432	A	-	95735432	7	5	191	1	0	1	0	1	0	0	0	0	55	131	5	0	1373	0	ABCC4	13	95735432	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	18093515	95735432	19434446	1365	104385											
IPO5	3843	broad.mit.edu	37	chr13	98641389	98641389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctctcaaaatgtgggActgcgggaagctgcccttca	12	11	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:98641389A>G	uc001vnf.1	+	4	503	c.438A>G	c.(436-438)GGA>GGG	p.G146G	IPO5_uc001vne.2_Silent_p.G164G|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.G86G	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	146					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			ovary(1)|lung(1)|skin(1)	3						AAAATGTGGGACTGCGGGAAG	0.373													G	98641389	A	G	98641389	2	3	191	1	0	0	0	0	0	0	0	1	7796	262	10	3		3	IPO5	13	98641389	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2905957	98641389	16528489	1366	104386											
FARP1	10160	broad.mit.edu	37	chr13	99092476	99092476	+	Frame_Shift_Del	DEL	C	C	-													cctgagttcctggccagcagCccccctgacaacagtgagtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:99092475_99092475GC>G	uc001vnh.3	+	23	2947	c.2708_2708GC>G	c.(2707-2709)agcfs	p.S903fs	FARP1_uc001vnj.3_Frame_Shift_Del_p.S872fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	872					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			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)			CTGGCCAGCAGCCCCCCTGAC	0.602													-	99092476	C	-	99092476	7	5	191	1	0	1	0	1	0	0	0	0	5676	738	26	0	2925	0	FARP1	13	99092476	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	451087	99092476	16077402	1367	104387											
FAM155A	728215	broad.mit.edu	37	chr13	107822998	107822998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcacagtcttgttgcTgatgacactgtgagcgatgt	12	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:107822998T>C	uc001vql.2	-	3	1740	c.1224A>G	c.(1222-1224)TCA>TCG	p.S408S		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	408						integral to membrane	binding			skin(1)	1						GTCTTGTTGCTGATGACACTG	0.493													C	107822998	T	C	107822998	2	2	191	1	0	0	0	0	0	0	0	1	5465	1567	55	3		3	FAM155A	13	107822998	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	8730522	107822998	7346880	1368	104388											
COL4A1	1282	broad.mit.edu	37	chr13	110838821	110838821	+	Frame_Shift_Del	DEL	G	G	-													gaccatatcctggaggcccaGgggggccggtgtcaccacga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:110838820_110838820AG>A	uc001vqw.4	-	25	1931	c.1809_1809CT>T	c.(1807-1809)cctfs	p.P603fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	603	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)			CTGGAGGCCCAGGGGGGCCGG	0.602													-	110838821	G	-	110838821	7	5	191	1	0	1	0	1	0	0	0	0	3689	1000	35	0	3309	0	COL4A1	13	110838821	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	3015823	110838821	4331057	1369	104389											
ARHGEF7	8874	broad.mit.edu	37	chr13	111953116	111953116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgcaaagaatctgctcCacaagttttgcttccagaag	7	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:111953116C>T	uc010tjo.1	+	18	1962	c.1910C>T	c.(1909-1911)CCA>CTA	p.P637L	ARHGEF7_uc001vrv.3_Missense_Mutation_p.P562L|ARHGEF7_uc001vrw.3_Missense_Mutation_p.P562L|ARHGEF7_uc001vrx.3_Missense_Mutation_p.P562L	NM_003899	NP_003890	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform a	Error:Variant_position_missing_in_Q14155_after_alignment					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			GAATCTGCTCCACAAGTTTTG	0.353													T	111953116	C	T	111953116	3	4	191	1	0	0	0	0	1	0	0	0	911	594	21	4	2516	4	ARHGEF7	13	111953116	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1114295	111953116	3216762	1370	104390											
TUBGCP3	10426	broad.mit.edu	37	chr13	113210541	113210541	+	Splice_Site	DEL	A	A	-													ggagcttgattagactgtctAaaaaaagaaacatgtattat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:113210540_113210540TA>T	uc001vse.1	-	6	736	c.549_splice	c.e6-1	p.G183_splice	TUBGCP3_uc010tjq.1_Splice_Site_p.G173_splice|TUBGCP3_uc001vsf.3_Splice_Site_p.G183_splice|TUBGCP3_uc001vsg.1_Splice_Site_p.G183_splice	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	183					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)					TTAGACTGTCTAAAAAAAGAA	0.393													-	113210541	A	-	113210541	8	5	191	1	0	1	0	1	0	0	1	0	16764	377	13	0		0	TUBGCP3	13	113210541	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1257425	113210541	1959337	1371	104391											
POTEG	404785	broad.mit.edu	37	chr14	19553815	19553815	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttcatggagccgaggtaCcacgtccgtcgagaagatct	12	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:19553815C>A	uc001vuz.1	+	1	451	c.399C>A	c.(397-399)TAC>TAA	p.Y133*	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	133										ovary(1)	1						AGCCGAGGTACCACGTCCGTC	0.587													A	19553815	C	A	19553815	4	1	191	1	0	0	0	0	0	1	0	0	12266	518	18	5	401	5	POTEG	14	19553815	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08		19553815	87795725	1372	104392											
OR4M1	441670	broad.mit.edu	37	chr14	20248598	20248598	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttctatttgttcatcctAccaggaaatatccttatcat	3	11	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20248598A>G	uc010tku.1	+	1	117	c.117A>G	c.(115-117)CTA>CTG	p.L39L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCATCCTACCAGGAAATA	0.428													G	20248598	A	G	20248598	2	3	191	1	0	0	0	0	0	0	0	1	11075	378	14	3		3	OR4M1	14	20248598	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	694783	20248598	87100942	1373	104393											
OR4K15	81127	broad.mit.edu	37	chr14	20443718	20443718	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtttctctcctattcAggtagctgaaattaagtccc	6	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20443718A>C	uc010tkx.1	+	1	41	c.41A>C	c.(40-42)CAG>CCG	p.Q14P		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCTATTCAGGTAGCTGAA	0.383													C	20443718	A	C	20443718	3	2	191	1	0	0	0	0	1	0	0	0	11070	188	7	5	43	5	OR4K15	14	20443718	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	195120	20443718	86905822	1374	104394											
OR4L1	122742	broad.mit.edu	37	chr14	20528881	20528882	+	Frame_Shift_Ins	INS	-	-	A													tcatcctggtcagtgtaccaINSaaaaaatcatcacatgggct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20528880_20528881C>CA	uc001vwn.1	+	0	677_678	c.677_678C>CA	c.(676-678)ccafs	p.P226fs		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	226					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)		GTCAGTGTACCAAAAAAATCAT	0.436													A	20528882	-	A	20528881	7	5	191	1	0	1	1	0	0	0	0	0	11074	117	5	0	680	0	OR4L1	14	20528881	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	85163	20528881	86820659	1375	104395											
OSGEP	55644	broad.mit.edu	37	chr14	20915437	20915437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctacttcatctgtccgatAcctgtggaaaaacagaagaa	7	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20915437A>G	uc001vxf.2	-	11	1326	c.970T>C	c.(970-972)TAT>CAT	p.Y324H		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	324					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	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;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TCTGTCCGATACCTGTGGAAA	0.473													G	20915437	A	G	20915437	3	3	191	1	0	0	0	0	1	0	0	0	11287	405	14	3	41	3	OSGEP	14	20915437	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	386556	20915437	86434103	1376	104396											
RNASE4	6038	broad.mit.edu	37	chr14	21167799	21167799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcagcaccaccaataTccaatgcaagaacggcaaga	7	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21167799T>C	uc001vxy.3	+	2	832	c.269T>C	c.(268-270)ATC>ACC	p.I90T	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.I90T	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	90					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		ACCACCAATATCCAATGCAAG	0.478													C	21167799	T	C	21167799	3	2	191	1	0	0	0	0	1	0	0	0	13406	1435	50	3	271	3	RNASE4	14	21167799	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	252362	21167799	86181741	1377	104397											
RPGRIP1	57096	broad.mit.edu	37	chr14	21762942	21762943	+	Frame_Shift_Ins	INS	-	-	T													tgttggtgaaggagctttctINStggaagcaacaggatgagat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21762941_21762942C>CT	uc001wag.3	+	1	191_192	c.191_192C>CT	c.(190-192)tctfs	p.S64fs		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	64					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)		AAGGAGCTTTCTTGGAAGCAAC	0.381													T	21762943	-	T	21762942	7	5	191	1	0	1	1	0	0	0	0	0	13549	1596	56	0	198	0	RPGRIP1	14	21762942	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	595143	21762942	85586598	1378	104398											
CHD8	57680	broad.mit.edu	37	chr14	21862288	21862288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccgaagcaattctataCggtagagagtccgtgaggct	13	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21862288C>T	uc001was.1	-	32	4923	c.4829G>A	c.(4828-4830)CGT>CAT	p.R1610H	CHD8_uc001war.1_Missense_Mutation_p.R1506H|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1889					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAATTCTATACGGTAGAGAGT	0.512													T	21862288	C	T	21862288	3	4	191	1	0	0	0	0	1	0	0	0	3331	536	19	1	2107	1	CHD8	14	21862288	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	99346	21862288	85487252	1379	104399											
CHD8	57680	broad.mit.edu	37	chr14	21868764	21868764	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataaaatatctcgccatcGtccccaactaaaaaacagaa	4	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21868764G>A	uc001was.1	-	23	3635	c.3541C>T	c.(3541-3543)CGA>TGA	p.R1181*	CHD8_uc001war.1_Nonsense_Mutation_p.R1077*|CHD8_uc001wav.1_Nonsense_Mutation_p.R623*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1460					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTCGCCATCGTCCCCAACTA	0.418													A	21868764	G	A	21868764	4	1	191	1	0	0	0	0	0	1	0	0	3331	1153	40	1	3431	1	CHD8	14	21868764	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6476	21868764	85480776	1380	104400											
CHD8	57680	broad.mit.edu	37	chr14	21896123	21896123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagcactcttcttcctGcgtttcttctcgccttcctc	4	19	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21896123G>A	uc001was.1	-	4	763	c.669C>T	c.(667-669)CGC>CGT	p.R223R	CHD8_uc001war.1_Silent_p.R119R	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	502					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTTCTTCCTGCGTTTCTTCT	0.542													A	21896123	G	A	21896123	2	1	191	1	0	0	0	0	0	0	0	1	3331	1306	46	2		2	CHD8	14	21896123	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	27359	21896123	85453417	1381	104401											
SLC7A8	23428	broad.mit.edu	37	chr14	23652029	23652029	+	Frame_Shift_Del	DEL	C	C	-													ctttcttcagggctactccgCcccctccggaaccagcctcg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:23652028_23652028GC>G	uc001wiz.3	-	0	822	c.96_96GC>C	c.(94-96)ggcfs	p.G32fs	SLC7A8_uc010akj.3_Frame_Shift_Del_p.G32fs	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	32					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)	GGGCTACTCCGCCCCCTCCGG	0.607													-	23652029	C	-	23652029	7	5	191	1	0	1	0	1	0	0	0	0	14704	739	26	0	1556	0	SLC7A8	14	23652029	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1755906	23652029	83697511	1382	104402											
MYH7	4625	broad.mit.edu	37	chr14	23885266	23885266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctcggcggccatgcGgttggcgtggctgagctgga	19	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:23885266G>A	uc001wjx.2	-	34	5006	c.4900C>T	c.(4900-4902)CGC>TGC	p.R1634C		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1634	Potential.		R -> C (in CMD1S).		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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCGGCCATGCGGTTGGCGTGG	0.612													A	23885266	G	A	23885266	3	1	191	1	0	0	0	0	1	0	0	0	10039	1116	39	1	935	1	MYH7	14	23885266	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	233237	23885266	83464274	1383	104403											
JPH4	84502	broad.mit.edu	37	chr14	24040254	24040254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgatgggctcaggctcCgtgcctgctggggccctcag	16	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24040254C>T	uc001wkq.2	-	6	2604	c.1686G>A	c.(1684-1686)ACG>ACA	p.T562T	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Silent_p.T227T|JPH4_uc001wkr.2_Silent_p.T562T	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	562	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCAGGCTCCGTGCCTGCTG	0.682													T	24040254	C	T	24040254	2	4	191	1	0	0	0	0	0	0	0	1	7963	639	23	1		1	JPH4	14	24040254	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	154988	24040254	83309286	1384	104404											
PCK2	5106	broad.mit.edu	37	chr14	24572402	24572402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgaggccttcaactggcGtcatggggtgtttgtgggca	15	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24572402G>A	uc001wlt.2	+	9	1538	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R481H|PCK2_uc010tnw.1_Missense_Mutation_p.R335H|PCK2_uc010tnx.1_Missense_Mutation_p.R335H|PCK2_uc001wlu.3_Intron	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	469					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		TTCAACTGGCGTCATGGGGTG	0.567													A	24572402	G	A	24572402	3	1	191	1	0	0	0	0	1	0	0	0	11582	1145	40	1	1532	1	PCK2	14	24572402	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	532148	24572402	82777138	1385	104405											
RNF31	55072	broad.mit.edu	37	chr14	24617593	24617593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacactggaagtactgctgCttcggacagagctcagcctg	11	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24617593C>A	uc001wmn.1	+	3	715	c.466C>A	c.(466-468)CTT>ATT	p.L156I	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	156	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AGTACTGCTGCTTCGGACAGA	0.552													A	24617593	C	A	24617593	3	1	191	1	0	0	0	0	1	0	0	0	13487	797	28	5	476	5	RNF31	14	24617593	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	45191	24617593	82731947	1386	104406											
RIPK3	11035	broad.mit.edu	37	chr14	24806443	24806443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggaacctgctcctctTgtgccctgctcctcttggta	9	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24806443T>C	uc001wpb.2	-	8	1334	c.1124A>G	c.(1123-1125)CAA>CGA	p.Q375R	ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.Q175R|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.Q154R	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	375					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTCCTCTTGTGCCCTGCT	0.517													C	24806443	T	C	24806443	3	2	191	1	0	0	0	0	1	0	0	0	13382	1812	63	3	444	3	RIPK3	14	24806443	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	188850	24806443	82543097	1387	104407											
COCH	1690	broad.mit.edu	37	chr14	31348147	31348147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcttctttcacagtaActagtaggtataattattgt	8	6	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:31348147A>G	uc001wqr.2	+	5	450	c.370A>G	c.(370-372)ACT>GCT	p.T124A	COCH_uc001wqp.2_Missense_Mutation_p.T124A|COCH_uc001wqq.3_Missense_Mutation_p.T124A|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	124					sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	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;0.00645)		TTTCACAGTAACTAGTAGGTA	0.403													G	31348147	A	G	31348147	3	3	191	1	0	0	0	0	1	0	0	0	3656	43	2	3	384	3	COCH	14	31348147	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	6541704	31348147	76001393	1388	104408											
BAZ1A	11177	broad.mit.edu	37	chr14	35253125	35253125	+	Frame_Shift_Del	DEL	T	T	-													gagagcatggagtatcttcaTtttttctcctgtcaaaaatt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:35253124_35253124AT>A	uc001wsk.3	-	14	2409	c.1841_1841AT>T	c.(1840-1842)atgfs	p.M614fs	BAZ1A_uc001wsl.3_Frame_Shift_Del_p.M582fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	614					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)		GAGTATCTTCATTTTTTCTCC	0.343													-	35253125	T	-	35253125	7	5	191	1	0	1	0	1	0	0	0	0	1329	1493	52	0	2882	0	BAZ1A	14	35253125	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	3904978	35253125	72096415	1389	104409											
NIN	51199	broad.mit.edu	37	chr14	51225270	51225270	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcgctttcacacctctcAgtgactttctgacaatcaga	7	12	4	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:51225270A>G	uc001wym.2	-	18	2669	c.2478T>C	c.(2476-2478)ACT>ACC	p.T826T	NIN_uc001wyi.2_Silent_p.T826T|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.T832T|NIN_uc001wyo.2_Silent_p.T826T	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	826	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CACACCTCTCAGTGACTTTCT	0.478			T	PDGFRB	MPD								G	51225270	A	G	51225270	2	3	191	1	0	0	0	0	0	0	0	1	10417	175	7	3		3	NIN	14	51225270	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	15972145	51225270	56124270	1390	104410											
WDHD1	11169	broad.mit.edu	37	chr14	55411081	55411081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttgacaatactctaaatCgaatcattccttcttttatt	3	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55411081C>T	uc001xbm.1	-	25	3236	c.3158G>A	c.(3157-3159)CGA>CAA	p.R1053Q	WDHD1_uc010aom.1_Missense_Mutation_p.R570Q|WDHD1_uc001xbn.1_Missense_Mutation_p.R930Q	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1053	HMG box.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						TACTCTAAATCGAATCATTCC	0.333													T	55411081	C	T	55411081	3	4	191	1	0	0	0	0	1	0	0	0	17268	884	31	1	239	1	WDHD1	14	55411081	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4185811	55411081	51938459	1391	104411											
SOCS4	122809	broad.mit.edu	37	chr14	55510977	55510977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtacaacttatgatggcatCgatgcccttccaattccttc	6	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55510977C>T	uc001xbo.2	+	3	1783	c.1218C>T	c.(1216-1218)ATC>ATT	p.I406I	SOCS4_uc001xbp.2_Silent_p.I406I	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	406	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						ATGATGGCATCGATGCCCTTC	0.368													T	55510977	C	T	55510977	2	4	191	1	0	0	0	0	0	0	0	1	14916	874	31	1		1	SOCS4	14	55510977	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	99896	55510977	51838563	1392	104412											
FBXO34	55030	broad.mit.edu	37	chr14	55818441	55818441	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtgtcccttactagcCgaaatcctgatcaaagaaaa	7	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55818441C>T	uc001xbu.2	+	2	1578	c.1333C>T	c.(1333-1335)CGA>TGA	p.R445*	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Nonsense_Mutation_p.R445*	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	445										ovary(2)|lung(2)|skin(1)	5						CCTTACTAGCCGAAATCCTGA	0.438													T	55818441	C	T	55818441	4	4	191	1	0	0	0	0	0	1	0	0	5744	644	23	1	1335	1	FBXO34	14	55818441	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	307464	55818441	51531099	1393	104413											
FBXO34	55030	broad.mit.edu	37	chr14	55818654	55818654	+	Frame_Shift_Del	DEL	G	G	-													gccagcttgaagatgctgctGggggtgacagtgcatctgag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55818653_55818653TG>T	uc021rtk.1	+	0	1545	c.1545_1545TG>T	c.(1543-1545)gctfs	p.A515fs	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Frame_Shift_Del_p.A515fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.A515fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	515										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAGATGCTGCTGGGGGTGACA	0.483													-	55818654	G	-	55818654	7	5	191	1	0	1	0	1	0	0	0	0	5744	1348	47	0	1548	0	FBXO34	14	55818654	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	213	55818654	51530886	1394	104414											
KIAA0831	22863	broad.mit.edu	37	chr14	55836623	55836623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggactcctcaaggtctgctCgtacttcaaagggccctgac	10	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55836623C>T	uc001xbx.1	-	10	1229	c.1193G>A	c.(1192-1194)CGA>CAA	p.R398Q	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.R285Q	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	398					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						AAGGTCTGCTCGTACTTCAAA	0.507													T	55836623	C	T	55836623	3	4	191	1	0	0	0	0	1	0	0	0	8195	884	31	1	289	1	KIAA0831	14	55836623	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	17969	55836623	51512917	1395	104415											
C14orf101	54916	broad.mit.edu	37	chr14	57052563	57052563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttggttcaattgcctacCgcgtcaatcttctctgtggc	8	12	4	0	rs144727961	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:57052563C>T	uc001xcm.2	+	3	399	c.277C>T	c.(277-279)CGC>TGC	p.R93C	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.R93C|C14orf101_uc010aot.1_Missense_Mutation_p.R93C|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	93						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AATTGCCTACCGCGTCAATCT	0.403													T	57052563	C	T	57052563	3	4	191	1	0	0	0	0	1	0	0	0	1734	652	23	1	287	1	C14orf101	14	57052563	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1215940	57052563	50296977	1396	104416											
OTX2	5015	broad.mit.edu	37	chr14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-													cctctcccggcgctgtttccGgggggtggctgcgggacaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632													-	57271049	G	-	57271049	7	5	191	1	0	1	0	1	0	0	0	0	11321	1115	39	0	771	0	OTX2	14	57271049	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	218486	57271049	50078491	1397	104417											
EXOC5	10640	broad.mit.edu	37	chr14	57714400	57714400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggttctccatacaagacGttcaatatattcatctgcca	7	10	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:57714400G>A	uc001xct.2	-	2	309	c.58C>T	c.(58-60)CGT>TGT	p.R20C	EXOC5_uc010trg.1_Translation_Start_Site|EXOC5_uc010trh.1_Missense_Mutation_p.R20C	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	20					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						CATACAAGACGTTCAATATAT	0.328													A	57714400	G	A	57714400	3	1	191	1	0	0	0	0	1	0	0	0	5307	1145	40	1	2136	1	EXOC5	14	57714400	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	443351	57714400	49635140	1398	104418											
KIAA0586	9786	broad.mit.edu	37	chr14	59014534	59014534	+	Frame_Shift_Del	DEL	C	C	-													cactctccgcttcacagatgCcccctgccaagatgtcagtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:59014533_59014533GC>G	uc010trr.2	+	33	5018	c.4774_4774GC>G	c.(4774-4776)gccfs	p.A1592fs	KIAA0586_uc001xdu.4_Frame_Shift_Del_p.M1495fs|KIAA0586_uc010trs.2_Frame_Shift_Del_p.M1425fs|KIAA0586_uc001xdt.4_Frame_Shift_Del_p.M1466fs|KIAA0586_uc001xdv.4_Frame_Shift_Del_p.M1434fs	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCACAGATGCCCCCTGCCA	0.522													-	59014534	C	-	59014534	7	5	191	1	0	1	0	1	0	0	0	0	8186	739	26	0	4421	0	KIAA0586	14	59014534	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1300134	59014534	48335006	1399	104419											
C14orf149	112849	broad.mit.edu	37	chr14	59946072	59946072	+	Splice_Site	DEL	A	A	-													gaacatccaccatgagatctAaaaaaaagatgtgtttggaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333													-	59946072	A	-	59946072	8	5	191	1	0	1	0	1	0	0	1	0	1752	377	13	0		0	C14orf149	14	59946072	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	931538	59946072	47403468	1400	104420											
C14orf50	145376	broad.mit.edu	37	chr14	65054921	65054921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagaaaaagctcaaaaCgtctttgagaaaaagtatca	7	7	4	2	rs142941569	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:65054921C>T	uc001xhl.1	+	11	1086	c.990C>T	c.(988-990)AAC>AAT	p.N330N	C14orf50_uc001xhm.1_Silent_p.N60N	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	330										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		AAGCTCAAAACGTCTTTGAGA	0.463													T	65054921	C	T	65054921	2	4	191	1	0	0	0	0	0	0	0	1	1777	535	19	1		1	C14orf50	14	65054921	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5108849	65054921	42294619	1401	104421											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208796	65208796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctggaggagcatgagcTgggagccatcacagaggagt	15	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:65208796T>C	uc001xho.1	+	16	2830	c.2561T>C	c.(2560-2562)CTG>CCG	p.L854P	PLEKHG3_uc001xhn.1_Missense_Mutation_p.L798P|PLEKHG3_uc001xhp.2_Missense_Mutation_p.L975P|PLEKHG3_uc010aqh.1_Missense_Mutation_p.L396P|PLEKHG3_uc001xhq.1_Missense_Mutation_p.L359P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	854					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGCATGAGCTGGGAGCCATC	0.662													C	65208796	T	C	65208796	3	2	191	1	0	0	0	0	1	0	0	0	12070	1580	55	3	2443	3	PLEKHG3	14	65208796	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	153875	65208796	42140744	1402	104422											
FNTB	2342	broad.mit.edu	37	chr14	65520041	65520041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctgccagtgccctgcGggggggcttctggataaacc	15	11	1	0	rs149471226		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:65520041G>A	uc001xia.2	+	10	1206	c.1041G>A	c.(1039-1041)GCG>GCA	p.A347A	FNTB_uc010tsl.1_Silent_p.A381A|FNTB_uc010tsm.1_Silent_p.A301A|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.A103A|FNTB_uc010tso.1_Silent_p.A262A	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	347	PFTB 5.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTGCCCTGCGGGGGGGCTTC	0.597													A	65520041	G	A	65520041	2	1	191	1	0	0	0	0	0	0	0	1	5978	1103	39	1		1	FNTB	14	65520041	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	311245	65520041	41829499	1403	104423											
RDH11	51109	broad.mit.edu	37	chr14	68151878	68151878	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccgaaccagttcagaTtggactgtgccagggtgtac	14	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:68151878T>C	uc001xjv.3	-	6	798	c.708A>G	c.(706-708)CAA>CAG	p.Q236Q	RDH11_uc001xjw.3_Silent_p.Q223Q|RDH11_uc001xjx.3_Silent_p.Q166Q	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	236	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCAGTTCAGATTGGACTGTGC	0.517													C	68151878	T	C	68151878	2	2	191	1	0	0	0	0	0	0	0	1	13190	1490	52	3		3	RDH11	14	68151878	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2631837	68151878	39197662	1404	104424											
MAP3K9	4293	broad.mit.edu	37	chr14	71200020	71200020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggtgaatgctgtaggCgactctctccactccctggg	14	12	1	1	rs147124893		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:71200020C>T	uc001xmm.2	-	11	2066	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	MAP3K9_uc010ttk.1_Missense_Mutation_p.R417H|MAP3K9_uc001xmk.2_Missense_Mutation_p.R422H|MAP3K9_uc001xml.2_Missense_Mutation_p.R703H	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	689					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		atgctgtaggcgactctctcc	0.299													T	71200020	C	T	71200020	3	4	191	1	0	0	0	0	1	0	0	0	9257	768	27	1	1256	1	MAP3K9	14	71200020	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3048142	71200020	36149520	1405	104425											
RBM25	58517	broad.mit.edu	37	chr14	73554751	73554751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccagaatctaccctccGtgcactcagattattacatg	8	12	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:73554751G>A	uc001xno.2	+	6	633	c.425G>A	c.(424-426)CGT>CAT	p.R142H	RBM25_uc001xnn.3_Missense_Mutation_p.R142H|RBM25_uc010ttu.1_Missense_Mutation_p.R142H|RBM25_uc001xnp.2_Translation_Start_Site	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	142	RRM.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCTACCCTCCGTGCACTCAGA	0.388													A	73554751	G	A	73554751	3	1	191	1	0	0	0	0	1	0	0	0	13125	1145	40	1	443	1	RBM25	14	73554751	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2354731	73554751	33794789	1406	104426											
PAPLN	89932	broad.mit.edu	37	chr14	73731295	73731295	+	Splice_Site	DEL	G	G	-													tttctcctggcctcatgacaGggggtgacatggccgtgctg					rs10595607		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:73731294_73731294AG>A	uc010ttx.2	+	21	3150	c.2987_splice	c.e21-2	p.G996_splice	PAPLN_uc001xnw.4_Splice_Site_p.G969_splice|PAPLN_uc010arl.3_Splice_Site|PAPLN_uc010ttw.2_Splice_Site|PAPLN_uc010tty.2_Splice_Site_p.G980_splice|PAPLN_uc010arm.3_Splice_Site_p.G195_splice|PAPLN_uc010arn.3_Splice_Site_p.G196_splice	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	996						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)		GCCTCATGACAGGGGGTGACA	0.632													-	73731295	G	-	73731295	8	5	191	1	0	1	0	1	0	0	1	0	11428	1014	35	0	2983	0	PAPLN	14	73731295	Splice_Site	DEL	G	TCGA-CG-5723-01A-11D-1600-08	176544	73731295	33618245	1407	104427											
C14orf45	80127	broad.mit.edu	37	chr14	74514756	74514756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagttgcaagagagtcaTactttacttttacatcaaaa	6	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:74514756T>C	uc010tup.1	+	7	894	c.771T>C	c.(769-771)CAT>CAC	p.H257H	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	257											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		AAGAGAGTCATACTTTACTTT	0.348													C	74514756	T	C	74514756	2	2	191	1	0	0	0	0	0	0	0	1	1775	1403	49	3		3	C14orf45	14	74514756	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	783461	74514756	32834784	1408	104428											
LTBP2	4053	broad.mit.edu	37	chr14	74995349	74995349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggacaggcggatgtcGgagctcgcgtaggtgtagcc	16	10	1	0	rs144915925		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:74995349G>A	uc001xqa.2	-	12	2592	c.2205C>T	c.(2203-2205)TCC>TCT	p.S735S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	735					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S735S(1)		liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCGGATGTCGGAGCTCGCGT	0.642													A	74995349	G	A	74995349	2	1	191	1	0	0	0	0	0	0	0	1	9074	1103	39	1		1	LTBP2	14	74995349	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	480593	74995349	32354191	1409	104429											
YLPM1	56252	broad.mit.edu	37	chr14	75265268	75265268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtgaggcctggaagcagtCgggagaaagtgccaggtggt	19	6	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:75265268C>T	uc001xqj.3	+	5	3392	c.3268C>T	c.(3268-3270)CGG>TGG	p.R1090W	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	895	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGGAAGCAGTCGGGAGAAAGT	0.587													T	75265268	C	T	75265268	3	4	191	1	0	0	0	0	1	0	0	0	17483	875	31	1	3286	1	YLPM1	14	75265268	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	269919	75265268	32084272	1410	104430											
TMED10	10972	broad.mit.edu	37	chr14	75643173	75643173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttgcgagagttaatgGgcagatggaaggagatggca	17	5	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:75643173G>A	uc001xrm.1	-	1	177	c.110C>T	c.(109-111)CCC>CTC	p.P37L	TMED10_uc010ash.1_RNA	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	37	Lumenal (Potential).				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				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AGAGTTAATGGGCAGATGGAA	0.612													A	75643173	G	A	75643173	3	1	191	1	0	0	0	0	1	0	0	0	16000	1232	43	4	569	4	TMED10	14	75643173	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	377905	75643173	31706367	1411	104431											
NRXN3	9369	broad.mit.edu	37	chr14	80328296	80328296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaacaaggacagggagTattacgtgtaaacatgcgaa	11	5	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:80328296T>C	uc001xun.2	+	17	3666	c.3175T>C	c.(3175-3177)TAT>CAT	p.Y1059H	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.Y635H|NRXN3_uc010asw.2_Missense_Mutation_p.Y457H|NRXN3_uc001xur.3_Missense_Mutation_p.Y430H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1641	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGACAGGGAGTATTACGTGTA	0.493													C	80328296	T	C	80328296	3	2	191	1	0	0	0	0	1	0	0	0	10667	1638	57	3	3587	3	NRXN3	14	80328296	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	4685123	80328296	27021244	1412	104432											
TSHR	7253	broad.mit.edu	37	chr14	81610228	81610228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagatctacatcacagtccGaaatccgcagtacaacccag	7	13	2	1	rs139352934	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:81610228G>A	uc001xvd.1	+	10	1982	c.1826G>A	c.(1825-1827)CGA>CAA	p.R609Q		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	609	Cytoplasmic (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATCACAGTCCGAAATCCGCAG	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						A	81610228	G	A	81610228	3	1	191	1	0	0	0	0	1	0	0	0	16619	1058	37	1	2001	1	TSHR	14	81610228	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1281932	81610228	25739312	1413	104433											
FLRT2	23768	broad.mit.edu	37	chr14	86088134	86088134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtacagtcggtgcacacGgtctacctgtatggcaacca	10	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:86088134G>A	uc001xvr.2	+	2	1043	c.276G>A	c.(274-276)ACG>ACA	p.T92T	FLRT2_uc010atd.2_Silent_p.T92T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	92	Extracellular (Potential).|LRR 2.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGGTGCACACGGTCTACCTGT	0.463													A	86088134	G	A	86088134	2	1	191	1	0	0	0	0	0	0	0	1	5939	1103	39	1		1	FLRT2	14	86088134	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4477906	86088134	21261406	1414	104434											
KCNK10	54207	broad.mit.edu	37	chr14	88652183	88652183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatgttgtcctcggacGcaccctgcccatgcttgttc	10	13	0	2	rs61738734	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:88652183G>A	uc001xwo.2	-	7	1770	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	KCNK10_uc001xwm.2_Missense_Mutation_p.A443V|KCNK10_uc001xwn.2_Missense_Mutation_p.A443V	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	438	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						GTCCTCGGACGCACCCTGCCC	0.572													A	88652183	G	A	88652183	3	1	191	1	0	0	0	0	1	0	0	0	8059	1087	38	1	307	1	KCNK10	14	88652183	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2564049	88652183	18697357	1415	104435											
PTPN21	11099	broad.mit.edu	37	chr14	88945665	88945665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggattagcatggtggCgtccgacagggacttcttat	14	8	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:88945665C>A	uc001xwv.3	-	13	2441	c.2110G>T	c.(2110-2112)GCC>TCC	p.A704S	PTPN21_uc010twc.1_Missense_Mutation_p.A500S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	704						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						AGCATGGTGGCGTCCGACAGG	0.682													A	88945665	C	A	88945665	3	1	191	1	0	0	0	0	1	0	0	0	12786	768	27	5	1442	5	PTPN21	14	88945665	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	293482	88945665	18403875	1416	104436											
TDP1	55775	broad.mit.edu	37	chr14	90429630	90429630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaagctgcacacaagAggaaaatatcacctgtgaaa	8	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:90429630A>G	uc001xxy.2	+	3	471	c.172A>G	c.(172-174)AGG>GGG	p.R58G	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.R58G|TDP1_uc010atn.2_Missense_Mutation_p.R58G|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.R58G|TDP1_uc001xyc.1_Missense_Mutation_p.R58G	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	58					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			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGCACACAAGAGGAAAATATC	0.512								Repair_of_DNA-protein_crosslinks					G	90429630	A	G	90429630	3	3	191	1	0	0	0	0	1	0	0	0	15725	295	11	3	174	3	TDP1	14	90429630	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1483965	90429630	16919910	1417	104437											
DICER1	23405	broad.mit.edu	37	chr14	95583999	95583999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttccatctgtttgttgCgaggctgattcttcccaatg	9	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:95583999C>T	uc001ydw.2	-	10	1651	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H	DICER1_uc001ydv.2_Missense_Mutation_p.R480H|DICER1_uc001ydx.2_Missense_Mutation_p.R490H	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	490	Helicase C-terminal.|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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGTTTGTTGCGAGGCTGATT	0.383			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95583999	C	T	95583999	3	4	191	1	0	0	0	0	1	0	0	0	4521	768	27	1	4375	1	DICER1	14	95583999	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5154369	95583999	11765541	1418	104438											
BCL11B	64919	broad.mit.edu	37	chr14	99723922	99723922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggacactttcctgagctCggagcgtgaggagggtggcg	17	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:99723922C>T	uc001yga.2	-	2	580	c.313G>A	c.(313-315)GAG>AAG	p.E105K	BCL11B_uc001ygb.2_Missense_Mutation_p.E105K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	105						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTCCTGAGCTCGGAGCGTGAG	0.592			T	TLX3	T-ALL								T	99723922	C	T	99723922	3	4	191	1	0	0	0	0	1	0	0	0	1364	893	31	1	2383	1	BCL11B	14	99723922	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4139923	99723922	7625618	1419	104439											
WARS	7453	broad.mit.edu	37	chr14	100820838	100820838	+	Frame_Shift_Del	DEL	C	C	-													gcattgcttcagaagaggggCcccggcccgtgtacagataa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:100820837_100820837GC>G	uc001yhh.1	-	4	870	c.489_489GC>C	c.(487-489)ggcfs	p.G163fs	WARS_uc001yhi.1_Frame_Shift_Del_p.G122fs|WARS_uc001yhg.2_Frame_Shift_Del_p.G163fs|WARS_uc001yhl.1_Frame_Shift_Del_p.G163fs|WARS_uc001yhk.1_Frame_Shift_Del_p.G122fs|WARS_uc010twz.1_Frame_Shift_Del_p.G163fs	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	163					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.R162W(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAGAAGAGGGGCCCCGGCCCG	0.393													-	100820838	C	-	100820838	7	5	191	1	0	1	0	1	0	0	0	0	17246	739	26	0	955	0	WARS	14	100820838	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	1096916	100820838	6528702	1420	104440											
DIO3	1735	broad.mit.edu	37	chr14	102028223	102028223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttcttcaagcaggcgcaCgagggcggtccggcgcccaa	14	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:102028223C>T	uc010txq.1	+	1	536	c.312C>T	c.(310-312)CAC>CAT	p.H104H	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	104	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				AGCAGGCGCACGAGGGCGGTC	0.657													T	102028223	C	T	102028223	2	4	191	1	0	0	0	0	0	0	0	1	4526	535	19	1		1	DIO3	14	102028223	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1207385	102028223	5321317	1421	104441											
TECPR2	9895	broad.mit.edu	37	chr14	102910059	102910059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcccagatcacagcccGgaacaatgtggtgtgggcgc	14	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:102910059G>A	uc001ylw.1	+	12	2976	c.2828G>A	c.(2827-2829)CGG>CAG	p.R943Q	TECPR2_uc010awl.2_Missense_Mutation_p.R943Q|TECPR2_uc010txx.1_Missense_Mutation_p.R106Q	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	943							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						ATCACAGCCCGGAACAATGTG	0.617													A	102910059	G	A	102910059	3	1	191	1	0	0	0	0	1	0	0	0	15741	1116	39	1	2870	1	TECPR2	14	102910059	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	881836	102910059	4439481	1422	104442											
PPP1R13B	23368	broad.mit.edu	37	chr14	104208418	104208418	+	Frame_Shift_Del	DEL	G	G	-													ctgttgtgaggagcctggctGgggggtgctgcctgtggcgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:104208417_104208417TG>T	uc001yof.1	-	10	1815	c.1532_1532CA>A	c.(1531-1533)cagfs	p.Q511fs	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Frame_Shift_Del_p.Q378fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	511	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.Q511fs*39(1)		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)				GGAGCCTGGCTGGGGGGTGCT	0.647													-	104208418	G	-	104208418	7	5	191	1	0	1	0	1	0	0	0	0	12357	1357	47	0	1769	0	PPP1R13B	14	104208418	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1298359	104208418	3141122	1423	104443											
C14orf180	400258	broad.mit.edu	37	chr14	105054103	105054103	+	Frame_Shift_Del	DEL	C	C	-													caggaggacaacaggaagtgCcccccctccatcctgaaacg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:105054103delC	uc001yow.1	+	3	430	c.129delC	c.(127-129)TGCfs	p.C43fs	C14orf180_uc010tyh.1_Frame_Shift_Del_p.C43fs|C14orf180_uc010awy.1_Frame_Shift_Del_p.C43fs	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	hypothetical protein LOC400258	43						integral to membrane					0		Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		ACAGGAAGTGCCCCCCCTCCA	0.701													-	105054103	C	-	105054103	7	5	191	1	0	1	0	1	0	0	0	0	1763	747	26	0	135	0	C14orf180	14	105054103	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	845685	105054103	2295437	1424	104444											
INF2	64423	broad.mit.edu	37	chr14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-													ctactgccctgcacctgcagCccccccgtggcgggaggcat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		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)		GCACCTGCAGCCCCCCCGTGG	0.562													-	105174185	C	-	105174185	7	5	191	1	0	1	0	1	0	0	0	0	7734	738	26	0	1611	0	INF2	14	105174185	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	120082	105174185	2175355	1425	104445											
OR4M2	390538	broad.mit.edu	37	chr15	22369024	22369024	+	Frame_Shift_Del	DEL	G	G	-													cctggtggctctctcctggaGggggggcttcattcattcta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:22369023_22369023AG>A	uc010tzu.2	+	0	546	c.448_448AG>A	c.(448-450)aggfs	p.R150fs	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(2)		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)		TCTCTCCTGGAGGGGGGGCTT	0.498													-	22369024	G	-	22369024	7	5	191	1	0	1	0	1	0	0	0	0	11076	1000	35	0	451	0	OR4M2	15	22369024	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08		22369024	80162368	1426	104446											
NIPA2	81614	broad.mit.edu	37	chr15	23014510	23014510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgcatacgcagcgaagttgGccacctcaccagctcccact	8	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:23014510G>C	uc001yux.2	-	6	828	c.215C>G	c.(214-216)GCC>GGC	p.A72G	NIPA2_uc001yuy.2_Missense_Mutation_p.A72G|NIPA2_uc001yuz.2_Missense_Mutation_p.A72G|NIPA2_uc001yva.2_Missense_Mutation_p.A53G|NIPA2_uc001yvb.2_Missense_Mutation_p.A72G|NIPA2_uc010ayb.2_Missense_Mutation_p.A53G	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	72	Helical; (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AGCGAAGTTGGCCACCTCACC	0.458													C	23014510	G	C	23014510	3	2	191	1	0	0	0	0	1	0	0	0	10423	1203	42	5	879	5	NIPA2	15	23014510	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	645486	23014510	79516882	1427	104447											
MAGEL2	54551	broad.mit.edu	37	chr15	23890346	23890346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggtgggcactgcctgCgatgcctttgaggcattcat	14	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:23890346C>T	uc001ywj.3	-	1	830	c.735G>A	c.(733-735)TCG>TCA	p.S245S		NM_019066	NP_061939			MAGE-like protein 2												0		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)		GCACTGCCTGCGATGCCTTTG	0.612													T	23890346	C	T	23890346	2	4	191	1	0	0	0	0	0	0	0	1	9189	755	27	1		1	MAGEL2	15	23890346	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	875836	23890346	78641046	1428	104448											
HERC2	8924	broad.mit.edu	37	chr15	28408251	28408251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagactcacctgtgggtaggCggtccccatgccggaaagca	14	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:28408251C>T	uc001zbj.2	-	69	10841	c.10735G>A	c.(10735-10737)GCC>ACC	p.A3579T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3579					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		TGTGGGTAGGCGGTCCCCATG	0.647													T	28408251	C	T	28408251	3	4	191	1	0	0	0	0	1	0	0	0	7058	768	27	1	3869	1	HERC2	15	28408251	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4517905	28408251	74123141	1429	104449											
TJP1	7082	broad.mit.edu	37	chr15	30011319	30011319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcctcatcatttcctcGggatatggatcctttctata	6	11	4	0	rs45562135		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:30011319G>A	uc001zcr.2	-	21	3502	c.3027C>T	c.(3025-3027)CCC>CCT	p.P1009P	TJP1_uc010azl.2_Silent_p.P997P|TJP1_uc001zcq.2_Silent_p.P933P|TJP1_uc001zcs.2_Silent_p.P929P	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1009					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		TCATTTCCTCGGGATATGGAT	0.393													A	30011319	G	A	30011319	2	1	191	1	0	0	0	0	0	0	0	1	15926	1103	39	1		1	TJP1	15	30011319	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1603068	30011319	72520073	1430	104450											
RYR3	6263	broad.mit.edu	37	chr15	33831643	33831643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacctcatcctcgtcagcGtgtcctctgaaagatacctt	7	13	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:33831643G>A	uc001zhi.2	+	6	596	c.526G>A	c.(526-528)GTG>ATG	p.V176M	RYR3_uc010bar.2_Missense_Mutation_p.V176M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	176	MIR 2.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CCTCGTCAGCGTGTCCTCTGA	0.433													A	33831643	G	A	33831643	3	1	191	1	0	0	0	0	1	0	0	0	13770	1145	40	1	548	1	RYR3	15	33831643	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3820324	33831643	68699749	1431	104451											
RYR3	6263	broad.mit.edu	37	chr15	33988594	33988594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagccacacctctgtaagCgacaccatcaacctgctggc	7	16	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:33988594C>T	uc001zhi.2	+	39	6106	c.6036C>T	c.(6034-6036)AGC>AGT	p.S2012S	RYR3_uc010bar.2_Silent_p.S2012S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2012	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CCTCTGTAAGCGACACCATCA	0.582													T	33988594	C	T	33988594	2	4	191	1	0	0	0	0	0	0	0	1	13770	767	27	1		1	RYR3	15	33988594	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	156951	33988594	68542798	1432	104452											
RYR3	6263	broad.mit.edu	37	chr15	34145782	34145782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtatggagatctctaCggagcagaacgcattgctga	11	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:34145782C>T	uc001zhi.2	+	96	13768	c.13698C>T	c.(13696-13698)TAC>TAT	p.Y4566Y	RYR3_uc010bar.2_Silent_p.Y4561Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4566					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GAGATCTCTACGGAGCAGAAC	0.488													T	34145782	C	T	34145782	2	4	191	1	0	0	0	0	0	0	0	1	13770	547	19	1		1	RYR3	15	34145782	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	157188	34145782	68385610	1433	104453											
C15orf29	79768	broad.mit.edu	37	chr15	34445071	34445071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggagttaaccaaatatgTtcgactatcatggtgtaatt	8	6	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:34445071T>C	uc001zhp.2	-	4	518	c.358A>G	c.(358-360)ACA>GCA	p.T120A	C15orf29_uc010ubz.1_Missense_Mutation_p.T24A|C15orf29_uc010uca.1_Missense_Mutation_p.T120A	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	120						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		ACCAAATATGTTCGACTATCA	0.418													C	34445071	T	C	34445071	3	2	191	1	0	0	0	0	1	0	0	0	1789	1725	60	3	584	3	C15orf29	15	34445071	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	299289	34445071	68086321	1434	104454											
SLC12A6	9990	broad.mit.edu	37	chr15	34531353	34531353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgcctccattaggtgCtttatggtctgaaagagaca	9	9	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:34531353C>T	uc001zhw.2	-	19	2609	c.2445G>A	c.(2443-2445)AAG>AAA	p.K815K	SLC12A6_uc001zhv.2_Silent_p.K764K|SLC12A6_uc001zhx.2_Silent_p.K800K|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.K756K|SLC12A6_uc001zib.2_Silent_p.K806K|SLC12A6_uc001zic.2_Silent_p.K815K|SLC12A6_uc010bau.2_Silent_p.K815K|SLC12A6_uc001zid.2_Silent_p.K756K|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.K627K	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	815					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)|ovary(1)|skin(1)	7		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)	CCATTAGGTGCTTTATGGTCT	0.493													T	34531353	C	T	34531353	2	4	191	1	0	0	0	0	0	0	0	1	14387	796	28	2		2	SLC12A6	15	34531353	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	86282	34531353	68000039	1435	104455											
MEIS2	4212	broad.mit.edu	37	chr15	37187361	37187361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaacctacctgcaggccGgatccccatgtgttgctgac	10	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:37187361G>A	uc001zjr.2	-	11	2175	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	MEIS2_uc001zjl.2_Missense_Mutation_p.R367W|MEIS2_uc010ucj.1_Missense_Mutation_p.R360W|MEIS2_uc001zjm.2_Missense_Mutation_p.R285W|MEIS2_uc001zjn.2_Missense_Mutation_p.R234W|MEIS2_uc001zjo.2_Missense_Mutation_p.R380W|MEIS2_uc001zjp.2_Missense_Mutation_p.R373W|MEIS2_uc001zjs.2_Missense_Mutation_p.R373W|MEIS2_uc001zju.2_Missense_Mutation_p.R360W|MEIS2_uc001zjt.2_Missense_Mutation_p.R373W|MEIS2_uc001zjj.2_Missense_Mutation_p.R76W|MEIS2_uc001zjk.2_Missense_Mutation_p.R69W	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	380					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			ovary(2)	2		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)		CCTGCAGGCCGGATCCCCATG	0.567													A	37187361	G	A	37187361	3	1	191	1	0	0	0	0	1	0	0	0	9468	1115	39	1	366	1	MEIS2	15	37187361	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2656008	37187361	65344031	1436	104456											
THBS1	7057	broad.mit.edu	37	chr15	39875834	39875834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagggggtgctgcagaatgTgaggtttgtctttggaacca	15	6	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:39875834T>C	uc001zkh.2	+	4	823	c.644T>C	c.(643-645)GTG>GCG	p.V215A		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	215	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		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)	CTGCAGAATGTGAGGTTTGTC	0.527											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39875834	T	C	39875834	3	2	191	1	0	0	0	0	1	0	0	0	15850	1696	59	3	654	3	THBS1	15	39875834	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2688473	39875834	62655558	1437	104457											
FSIP1	161835	broad.mit.edu	37	chr15	40018788	40018788	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctatgggttcttcaaatAcctgattattccgattttca	6	8	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:40018788A>G	uc001zki.2	-	9	1268	c.1050_splice	c.e9+1	p.Q350_splice		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1											ovary(2)|skin(1)	3		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)		TTCTTCAAATACCTGATTATT	0.373													G	40018788	A	G	40018788	5	3	191	1	0	0	0	0	0	0	1	0	6074	405	14	3	709	3	FSIP1	15	40018788	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	142954	40018788	62512604	1438	104458											
C15orf23	90417	broad.mit.edu	37	chr15	40683717	40683717	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggcagtgagaccctggcaTcacgacaagaatccactact	9	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:40683717T>G	uc001zll.2	+	7	824	c.709T>G	c.(709-711)TCA>GCA	p.S237A	C15orf23_uc010ucp.1_Missense_Mutation_p.S237A|C15orf23_uc001zlo.2_Intron|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	237						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GACCCTGGCATCACGACAAGA	0.473													G	40683717	T	G	40683717	3	3	191	1	0	0	0	0	1	0	0	0	1785	1435	50	5	735	5	C15orf23	15	40683717	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	664929	40683717	61847675	1439	104459											
SPINT1	6692	broad.mit.edu	37	chr15	41146715	41146715	+	Frame_Shift_Del	DEL	A	A	-													ctccgacgaggctgcctgtgAaaaatgtgaggcctggggga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:41146714_41146714GA>G	uc001zna.3	+	6	1312	c.1108_1108GA>G	c.(1108-1110)gaafs	p.E370fs	SPINT1_uc001znb.3_Frame_Shift_Del_p.E354fs|SPINT1_uc001znc.3_Frame_Shift_Del_p.E354fs|SPINT1_uc010ucs.2_Frame_Shift_Del_p.E361fs	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	370	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)		GGCTGCCTGTGAAAAATGTGA	0.627													-	41146715	A	-	41146715	7	5	191	1	0	1	0	1	0	0	0	0	15067	246	9	0	1131	0	SPINT1	15	41146715	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	462998	41146715	61384677	1440	104460											
CHAC1	79094	broad.mit.edu	37	chr15	41247781	41247781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccctgcgcctgaagagGccattgccacgcagatcctg	13	14	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:41247781G>A	uc001znh.2	+	3	624	c.604G>A	c.(604-606)GCC>ACC	p.A202T	CHAC1_uc010uct.1_Missense_Mutation_p.A157T	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	202					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		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)		GCCTGAAGAGGCCATTGCCAC	0.607													A	41247781	G	A	41247781	3	1	191	1	0	0	0	0	1	0	0	0	3308	1203	42	2	614	2	CHAC1	15	41247781	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	101066	41247781	61283611	1441	104461											
UBR1	197131	broad.mit.edu	37	chr15	43299296	43299296	+	Frame_Shift_Del	DEL	T	T	-													cctcctgagagttctatgggTtttcccctgtgctgggttaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:43299295_43299295GT>G	uc001zqq.3	-	29	3463	c.3397_3397AC>C	c.(3397-3399)cccfs	p.P1133fs		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1133					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)		AGTTCTATGGGTTTTCCCCTG	0.358													-	43299296	T	-	43299296	7	5	191	1	0	1	0	1	0	0	0	0	16898	1722	60	0	1925	0	UBR1	15	43299296	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	2051515	43299296	59232096	1442	104462											
TP53BP1	7158	broad.mit.edu	37	chr15	43748303	43748304	+	Frame_Shift_Del	DEL	AA	AA	-													aggtaaggaaggctgtgaagAatcttgctctacaggttctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:43748302_43748303GAA>G	uc001zrs.3	-	11	2636_2637	c.2488_2489TTC>C	c.(2488-2490)tctfs	p.S830fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.S830fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.S835fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.S835fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.S835fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	830					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		AGGCTGTGAAGAATCTTGCTCT	0.416								Other conserved DNA damage response genes					-	43748304	AA	-	43748303	7	5	191	1	0	1	0	1	0	0	0	0	16380	246	9	0	3498	0	TP53BP1	15	43748303	Frame_Shift_Del	DEL	AA	TCGA-CG-5723-01A-11D-1600-08	449007	43748303	58783089	1443	104463											
SPG11	80208	broad.mit.edu	37	chr15	44876193	44876193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaataccggcatactctActtgcttcatgcacacagcc	6	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:44876193A>G	uc001ztx.2	-	30	5716	c.5685T>C	c.(5683-5685)AGT>AGC	p.S1895S	SPG11_uc010bdw.2_Silent_p.S184S|SPG11_uc010ueh.1_Silent_p.S1895S|SPG11_uc010uei.1_Silent_p.S1895S|SPG11_uc001zty.1_Silent_p.S624S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1895	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		GGCATACTCTACTTGCTTCAT	0.468													G	44876193	A	G	44876193	2	3	191	1	0	0	0	0	0	0	0	1	15040	388	14	3		3	SPG11	15	44876193	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1127890	44876193	57655199	1444	104464											
DUOX1	53905	broad.mit.edu	37	chr15	45444515	45444515	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccgcacatcacacgggcatCacagacaccacccgcgtggg	11	17	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:45444515C>T	uc001zus.1	+	26	3571	c.3225C>T	c.(3223-3225)ATC>ATT	p.I1075I	DUOX1_uc001zut.1_Silent_p.I1075I|DUOX1_uc010bee.1_Silent_p.I455I|DUOX1_uc001zuu.2_Silent_p.I217I	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1075	Interaction with TXNDC11 (By similarity).|Extracellular (Potential).				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			ovary(5)|skin(2)|breast(1)	8		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)		ACACGGGCATCACAGACACCA	0.607													T	45444515	C	T	45444515	2	4	191	1	0	0	0	0	0	0	0	1	4800	816	29	4		4	DUOX1	15	45444515	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	568322	45444515	57086877	1445	104465											
MYEF2	50804	broad.mit.edu	37	chr15	48459562	48459562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccttgattttccttccGcatccttaaagagctccacg	5	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:48459562G>A	uc001zwi.3	-	3	531	c.407C>T	c.(406-408)GCG>GTG	p.A136V	MYEF2_uc001zwj.3_Missense_Mutation_p.A136V|MYEF2_uc001zwl.2_Intron	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	136	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTTTCCTTCCGCATCCTTAAA	0.368													A	48459562	G	A	48459562	3	1	191	1	0	0	0	0	1	0	0	0	10024	1087	38	1	1455	1	MYEF2	15	48459562	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3015047	48459562	54071830	1446	104466											
SECISBP2L	9728	broad.mit.edu	37	chr15	49304949	49304949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaaaggatgtcaaacaggGctgacttttggttaaaggtt	11	4	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:49304949G>A	uc001zxe.1	-	12	1761	c.1627C>T	c.(1627-1629)CCC>TCC	p.P543S	SECISBP2L_uc001zxd.1_Missense_Mutation_p.P498S|SECISBP2L_uc010bep.1_Missense_Mutation_p.P305S	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	543										breast(1)|skin(1)	2						GTCAAACAGGGCTGACTTTTG	0.353													A	49304949	G	A	49304949	3	1	191	1	0	0	0	0	1	0	0	0	14007	1203	42	2	1706	2	SECISBP2L	15	49304949	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	845387	49304949	53226443	1447	104467											
GALK2	2585	broad.mit.edu	37	chr15	49493385	49493385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctaaaggagatgtttaActccaagtttggatctattc	9	6	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:49493385A>G	uc001zxj.1	+	2	178	c.80A>G	c.(79-81)AAC>AGC	p.N27S	GALK2_uc001zxi.1_Missense_Mutation_p.N16S|GALK2_uc010ufb.1_Missense_Mutation_p.N3S|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.N3S	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	27					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GAGATGTTTAACTCCAAGTTT	0.279													G	49493385	A	G	49493385	3	3	191	1	0	0	0	0	1	0	0	0	6204	43	2	3	110	3	GALK2	15	49493385	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	188436	49493385	53038007	1448	104468											
ATP8B4	79895	broad.mit.edu	37	chr15	50215592	50215592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacactgaggtggtctgacGtcaaagacaaaaggacttca	10	8	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:50215592G>A	uc001zxu.2	-	17	1884	c.1742C>T	c.(1741-1743)ACG>ATG	p.T581M	ATP8B4_uc010ber.2_Missense_Mutation_p.T454M|ATP8B4_uc010ufd.1_Missense_Mutation_p.T391M|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	581	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTGGTCTGACGTCAAAGACAA	0.408													A	50215592	G	A	50215592	3	1	191	1	0	0	0	0	1	0	0	0	1197	1145	40	1	1884	1	ATP8B4	15	50215592	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	722207	50215592	52315800	1449	104469											
TMOD3	29766	broad.mit.edu	37	chr15	52194210	52194210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaaccagagcagctaatgCtataacaaaaaacaatgact	6	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:52194210C>T	uc002abm.2	+	9	1220	c.1001C>T	c.(1000-1002)GCT>GTT	p.A334V	TMOD3_uc010bfc.1_RNA	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	334						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)		GCAGCTAATGCTATAACAAAA	0.378													T	52194210	C	T	52194210	3	4	191	1	0	0	0	0	1	0	0	0	16232	797	28	2	1031	2	TMOD3	15	52194210	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1978618	52194210	50337182	1450	104470											
MYO5A	4644	broad.mit.edu	37	chr15	52662454	52662454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtctttccggagcttgGcaatttcttcctgcagacta	9	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:52662454G>A	uc002aby.2	-	22	3222	c.2978C>T	c.(2977-2979)GCC>GTC	p.A993V	MYO5A_uc002abx.3_Missense_Mutation_p.A993V|MYO5A_uc010uge.1_Missense_Mutation_p.A862V	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	993	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCGGAGCTTGGCAATTTCTTC	0.453													A	52662454	G	A	52662454	3	1	191	1	0	0	0	0	1	0	0	0	10078	1203	42	2	2669	2	MYO5A	15	52662454	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	468244	52662454	49868938	1451	104471											
ONECUT1	3175	broad.mit.edu	37	chr15	53081384	53081384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccgaggtgggcgtgaggTgctgctccccgtggcggccg	20	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:53081384T>C	uc002aci.1	-	1	826	c.698A>G	c.(697-699)CAC>CGC	p.H233R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	233					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				0				all cancers(107;0.0708)		GGGCGTGAGGTGCTGCTCCCC	0.716													C	53081384	T	C	53081384	3	2	191	1	0	0	0	0	1	0	0	0	10868	1696	59	3	707	3	ONECUT1	15	53081384	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	418930	53081384	49450008	1452	104472											
WDR72	256764	broad.mit.edu	37	chr15	53907708	53907708	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caacaaataaactatagtatCtgactctcgcaaagaatcac	4	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:53907708C>G	uc002acj.2	-	15	2737	c.2695G>C	c.(2695-2697)GAT>CAT	p.D899H	WDR72_uc010bfi.1_Missense_Mutation_p.D899H	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	899										lung(1)|skin(1)	2				all cancers(107;0.0511)		ACTATAGTATCTGACTCTCGC	0.348													G	53907708	C	G	53907708	3	3	191	1	0	0	0	0	1	0	0	0	17319	913	32	5	637	5	WDR72	15	53907708	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	826324	53907708	48623684	1453	104473											
UNC13C	440279	broad.mit.edu	37	chr15	54307652	54307652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccacacttgactctgAtgtctacacggagccctatt	7	12	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:54307652A>G	uc002ack.2	+	1	2552	c.2552A>G	c.(2551-2553)GAT>GGT	p.D851G		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	851					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTGACTCTGATGTCTACACG	0.418													G	54307652	A	G	54307652	3	3	191	1	0	0	0	0	1	0	0	0	16983	333	12	3	2554	3	UNC13C	15	54307652	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	399944	54307652	48223740	1454	104474											
DYX1C1	161582	broad.mit.edu	37	chr15	55759182	55759182	+	Frame_Shift_Del	DEL	T	T	-													agtaagactcttatattttaTtttttttctttcttctttaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:55759181_55759181AT>A	uc002adc.3	-	4	952	c.584_584AT>T	c.(583-585)atafs	p.I195fs	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Intron|DYX1C1_uc002adb.3_Frame_Shift_Del_p.I195fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.I195fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	195					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)		cttatattttattttttttct	0.289													-	55759182	T	-	55759182	7	5	191	1	0	1	0	1	0	0	0	0	4862	1493	52	0	806	0	DYX1C1	15	55759182	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1451530	55759182	46772210	1455	104475											
PRTG	283659	broad.mit.edu	37	chr15	55912219	55912219	+	Frame_Shift_Del	DEL	G	G	-													cagtgaaagaatcagaggttGgggggtgtggtacttataac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:55912218_55912218TG>T	uc002adg.3	-	19	3493	c.3445_3445CA>A	c.(3445-3447)aacfs	p.N1149fs		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1149					multicellular organismal development	integral to membrane		p.P1148H(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)		AATCAGAGGTTGGGGGGTGTG	0.488													-	55912219	G	-	55912219	7	5	191	1	0	1	0	1	0	0	0	0	12638	1335	47	0	12	0	PRTG	15	55912219	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	153037	55912219	46619173	1456	104476											
RFX7	64864	broad.mit.edu	37	chr15	56388135	56388135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttacatttggtcctctgGtcacagaccttagttgcttt	7	10	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:56388135G>A	uc010bfn.2	-	9	1791	c.1791C>T	c.(1789-1791)GAC>GAT	p.D597D	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.D411D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	500					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TGGTCCTCTGGTCACAGACCT	0.433													A	56388135	G	A	56388135	2	1	191	1	0	0	0	0	0	0	0	1	13268	1252	44	4		4	RFX7	15	56388135	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	475916	56388135	46143257	1457	104477											
ALDH1A2	8854	broad.mit.edu	37	chr15	58287284	58287284	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatacactcactgggatgaTctgtccacacactccaatgg	7	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:58287284T>A	uc002aex.2	-	5	605	c.547A>T	c.(547-549)ATC>TTC	p.I183F	ALDH1A2_uc002aey.2_Missense_Mutation_p.I183F|ALDH1A2_uc010ugv.1_Missense_Mutation_p.I162F|ALDH1A2_uc010ugw.1_Missense_Mutation_p.I154F|ALDH1A2_uc002aew.2_Missense_Mutation_p.I87F	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	183					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACTGGGATGATCTGTCCACAC	0.393													A	58287284	T	A	58287284	3	1	191	1	0	0	0	0	1	0	0	0	491	1435	50	5	1045	5	ALDH1A2	15	58287284	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1899149	58287284	44244108	1458	104478											
TLN2	83660	broad.mit.edu	37	chr15	62978963	62978963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctcaccaccgtcaagCgctgggcagcctcacccaag	10	19	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:62978963C>T	uc002alb.3	+	9	1081	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	361	FERM.|Interaction with PIP5K1C (By similarity).				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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CACCGTCAAGCGCTGGGCAGC	0.602													T	62978963	C	T	62978963	3	4	191	1	0	0	0	0	1	0	0	0	15945	768	27	1	1115	1	TLN2	15	62978963	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4691679	62978963	39552429	1459	104479											
TLN2	83660	broad.mit.edu	37	chr15	63004122	63004122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaggtgaaatggtgcGccaggcgcgggttctggccc	15	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:63004122G>A	uc002alb.3	+	19	2480	c.2480G>A	c.(2479-2481)CGC>CAC	p.R827H		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	827					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GAAATGGTGCGCCAGGCGCGG	0.498													A	63004122	G	A	63004122	3	1	191	1	0	0	0	0	1	0	0	0	15945	1087	38	1	2554	1	TLN2	15	63004122	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	25159	63004122	39527270	1460	104480											
HERC1	8925	broad.mit.edu	37	chr15	63990925	63990925	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaaatatcaaagacttActtctgcccttaactgctgc	7	10	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:63990925A>G	uc002amp.2	-	26	5053	c.4905_splice	c.e26+1	p.E1635_splice	HERC1_uc010uil.1_Splice_Site_p.E619_splice	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCAAAGACTTACTTCTGCCCT	0.418													G	63990925	A	G	63990925	5	3	191	1	0	0	0	0	0	0	1	0	7057	405	14	3	9890	3	HERC1	15	63990925	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	986803	63990925	38540467	1461	104481											
TRIP4	9325	broad.mit.edu	37	chr15	64686305	64686305	+	Frame_Shift_Del	DEL	A	A	-													atcctttgcagcagtgcttcAaaaaagatggtaagttaatg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:64686304_64686304CA>C	uc002anm.3	+	1	321	c.261_261CA>C	c.(259-261)ttcfs	p.F87fs		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	87					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						AGCAGTGCTTCAAAAAAGATG	0.318													-	64686305	A	-	64686305	7	5	191	1	0	1	0	1	0	0	0	0	16555	131	5	0	268	0	TRIP4	15	64686305	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	695380	64686305	37845087	1462	104482											
TRIP4	9325	broad.mit.edu	37	chr15	64717782	64717782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcaggttgtcttctgggCtgtgtggacctaattgactg	13	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:64717782C>T	uc002anm.2	+	11	1570	c.1527C>T	c.(1525-1527)GGC>GGT	p.G509G		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	509					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			ovary(1)|kidney(1)|skin(1)	3						GTCTTCTGGGCTGTGTGGACC	0.313													T	64717782	C	T	64717782	2	4	191	1	0	0	0	0	0	0	0	1	16555	784	28	2		2	TRIP4	15	64717782	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	31477	64717782	37813610	1463	104483											
CILP	8483	broad.mit.edu	37	chr15	65491212	65491212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaccttggtgggtagcGtgtagccactgcactggatc	14	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:65491212G>A	uc002aon.2	-	9	1593	c.1412C>T	c.(1411-1413)ACG>ATG	p.T471M		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	471					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						GGTGGGTAGCGTGTAGCCACT	0.607													A	65491212	G	A	65491212	3	1	191	1	0	0	0	0	1	0	0	0	3429	1145	40	1	2146	1	CILP	15	65491212	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	773430	65491212	37040180	1464	104484											
IGDCC4	57722	broad.mit.edu	37	chr15	65702545	65702545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcaatgtcacctggtcCttctcccaagtaatgatggg	10	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:65702545C>A	uc002aou.1	-	3	744	c.534G>T	c.(532-534)AAG>AAT	p.K178N		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	178	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						TCACCTGGTCCTTCTCCCAAG	0.607													A	65702545	C	A	65702545	3	1	191	1	0	0	0	0	1	0	0	0	7569	680	24	5	3290	5	IGDCC4	15	65702545	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	211333	65702545	36828847	1465	104485											
DENND4A	10260	broad.mit.edu	37	chr15	66048497	66048497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagatctgtaagtggagGcttatctcttcctcttctat	7	12	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:66048497G>A	uc002aph.2	-	3	670	c.292C>T	c.(292-294)CCT>TCT	p.P98S	DENND4A_uc002api.2_Missense_Mutation_p.P98S|DENND4A_uc002apj.3_Missense_Mutation_p.P98S|DENND4A_uc010ujj.1_Missense_Mutation_p.P98S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	98	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GTAAGTGGAGGCTTATCTCTT	0.378													A	66048497	G	A	66048497	3	1	191	1	0	0	0	0	1	0	0	0	4433	1203	42	2	5552	2	DENND4A	15	66048497	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	345952	66048497	36482895	1466	104486											
MAP2K1	5604	broad.mit.edu	37	chr15	66737006	66737006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctaggtaataaaaggcCtgacatatctgagggagaag	11	7	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:66737006C>A	uc010bhq.2	+	5	1004	c.529C>A	c.(529-531)CTG>ATG	p.L177M	MAP2K1_uc010ujp.1_Missense_Mutation_p.L155M	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	177	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				0						AATAAAAGGCCTGACATATCT	0.323									Cardiofaciocutaneous_syndrome				A	66737006	C	A	66737006	3	1	191	1	0	0	0	0	1	0	0	0	9236	680	24	5	547	5	MAP2K1	15	66737006	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	688509	66737006	35794386	1467	104487											
PIAS1	8554	broad.mit.edu	37	chr15	68479955	68479955	+	Frame_Shift_Del	DEL	T	T	-													acctcctacactcgtctcggTttttcccgtatacctcctca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:68479954_68479954GT>G	uc002aqz.3	+	13	1830	c.1737_1737GT>G	c.(1735-1737)cggfs	p.R579fs		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	579	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACTCGTCTCGGTTTTTCCCGT	0.488													-	68479955	T	-	68479955	7	5	191	1	0	1	0	1	0	0	0	0	11875	1725	60	0	1792	0	PIAS1	15	68479955	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1742949	68479955	34051437	1468	104488											
FEM1B	10116	broad.mit.edu	37	chr15	68583129	68583129	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacaacctgattcaccttgAtcccagaactcgtgaaggtt	7	12	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:68583129A>T	uc002arg.2	+	2	2048	c.1433A>T	c.(1432-1434)GAT>GTT	p.D478V	FEM1B_uc002arh.2_Missense_Mutation_p.D398V	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	478					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						ATTCACCTTGATCCCAGAACT	0.423													T	68583129	A	T	68583129	3	4	191	1	0	0	0	0	1	0	0	0	5810	333	12	5	1439	5	FEM1B	15	68583129	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	103174	68583129	33948263	1469	104489											
TLE3	7090	broad.mit.edu	37	chr15	70345628	70345628	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtcccaggagcgcaccgTgttgtccaggccccctgtcc	12	17	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:70345628T>G	uc002asm.2	-	17	3040	c.1921A>C	c.(1921-1923)ACG>CCG	p.T641P	TLE3_uc002ask.2_Missense_Mutation_p.T568P|TLE3_uc002asl.2_Missense_Mutation_p.T641P|TLE3_uc010ukd.1_Missense_Mutation_p.T631P|TLE3_uc010bik.1_Missense_Mutation_p.T222P|TLE3_uc010bil.1_Missense_Mutation_p.T638P|TLE3_uc002asn.2_Missense_Mutation_p.T629P|TLE3_uc002asp.2_Missense_Mutation_p.T633P|TLE3_uc002aso.2_Missense_Mutation_p.T636P	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	641	WD 4.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						GAGCGCACCGTGTTGTCCAGG	0.612													G	70345628	T	G	70345628	3	3	191	1	0	0	0	0	1	0	0	0	15937	1696	59	5	413	5	TLE3	15	70345628	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1762499	70345628	32185764	1470	104490											
THSD4	79875	broad.mit.edu	37	chr15	72039263	72039263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccgccaggtgtacgCcaaccgcagcctgacggtgc	13	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:72039263C>T	uc002atb.1	+	12	2202	c.2123C>T	c.(2122-2124)GCC>GTC	p.A708V	THSD4_uc002ate.2_Missense_Mutation_p.A348V	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	708	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CAGGTGTACGCCAACCGCAGC	0.627													T	72039263	C	T	72039263	3	4	191	1	0	0	0	0	1	0	0	0	15875	739	26	2	2169	2	THSD4	15	72039263	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1693635	72039263	30492129	1471	104491											
BBS4	585	broad.mit.edu	37	chr15	73028236	73028236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaagaagaacgccctgGcccaatatcaggagatggag	14	9	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:73028236G>A	uc002avb.2	+	14	1220	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	BBS4_uc010ukv.1_Missense_Mutation_p.A381T|BBS4_uc002avc.2_Missense_Mutation_p.A221T|BBS4_uc002avd.2_Missense_Mutation_p.A401T	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	393	TPR 10.|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				0						GAACGCCCTGGCCCAATATCA	0.473									Bardet-Biedl_syndrome				A	73028236	G	A	73028236	3	1	191	1	0	0	0	0	1	0	0	0	1339	1203	42	2	1231	2	BBS4	15	73028236	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	988973	73028236	29503156	1472	104492											
PML	5371	broad.mit.edu	37	chr15	74315304	74315304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacgccatgacgcaggcGctgcaggagcaggatagtgc	16	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74315304G>A	uc002awv.2	+	3	878	c.738G>A	c.(736-738)GCG>GCA	p.A246A	PML_uc002awm.2_Silent_p.A246A|PML_uc002awl.2_Silent_p.A246A|PML_uc002awj.1_Silent_p.A246A|PML_uc002awk.2_Silent_p.A246A|PML_uc002awn.2_Silent_p.A246A|PML_uc002awo.2_Silent_p.A246A|PML_uc002awp.2_Silent_p.A246A|PML_uc002awq.2_Silent_p.A246A|PML_uc002awr.2_Silent_p.A246A|PML_uc002aws.2_Silent_p.A246A|PML_uc002awt.2_Silent_p.A246A|PML_uc002awu.2_Silent_p.A246A|PML_uc010ule.1_Intron|PML_uc002aww.1_Silent_p.A161A|PML_uc002awx.2_Silent_p.A4A|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	246	Potential.				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|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 binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						TGACGCAGGCGCTGCAGGAGC	0.677			T	RARA|PAX5	APL|ALL								A	74315304	G	A	74315304	2	1	191	1	0	0	0	0	0	0	0	1	12135	1074	38	1		1	PML	15	74315304	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1287068	74315304	28216088	1473	104493											
STRA6	64220	broad.mit.edu	37	chr15	74490099	74490099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttggactcactgacagCgaggccaggcaggcgtggta	17	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74490099C>T	uc002axk.2	-	3	356	c.174G>A	c.(172-174)TCG>TCA	p.S58S	STRA6_uc002axi.2_5'Flank|STRA6_uc010ulh.1_Silent_p.S96S|STRA6_uc002axj.2_Silent_p.S97S|STRA6_uc010bji.2_Silent_p.S58S|STRA6_uc002axl.2_5'UTR|STRA6_uc002axm.2_Silent_p.S58S|STRA6_uc002axn.2_Silent_p.S58S|STRA6_uc010uli.1_Silent_p.S95S|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Silent_p.S58S	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	58	Helical; (Potential).				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			central_nervous_system(1)	1						TCACTGACAGCGAGGCCAGGC	0.652													T	74490099	C	T	74490099	2	4	191	1	0	0	0	0	0	0	0	1	15321	755	27	1		1	STRA6	15	74490099	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	174795	74490099	28041293	1474	104494											
CCDC33	80125	broad.mit.edu	37	chr15	74536466	74536466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcctgcaaggatggctcCgagccgtggccctatgtggt	14	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74536466C>T	uc002axo.2	+	2	556	c.162C>T	c.(160-162)TCC>TCT	p.S54S		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	257	C2.						protein binding			ovary(3)|skin(2)	5						AGGATGGCTCCGAGCCGTGGC	0.587													T	74536466	C	T	74536466	2	4	191	1	0	0	0	0	0	0	0	1	2806	639	23	1		1	CCDC33	15	74536466	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	46367	74536466	27994926	1475	104495											
CYP11A1	1583	broad.mit.edu	37	chr15	74636221	74636221	+	Frame_Shift_Del	DEL	G	G	-													tctgggggaaggttgagcatGgggacgctggtgtggaacat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74636220_74636220TG>T	uc002axt.2	-	3	894	c.739_739CA>A	c.(739-741)atgfs	p.M247fs	CYP11A1_uc002axs.2_Frame_Shift_Del_p.M89fs|CYP11A1_uc010bjm.1_Frame_Shift_Del_p.M89fs|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Frame_Shift_Del_p.M27fs	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	247					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)	AGGTTGAGCATGGGGACGCTG	0.557													-	74636221	G	-	74636221	7	5	191	1	0	1	0	1	0	0	0	0	4144	1335	47	0	851	0	CYP11A1	15	74636221	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	99755	74636221	27895171	1476	104496											
CLK3	1198	broad.mit.edu	37	chr15	74912515	74912515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccataccggacccgcaagcaTgcccaccactgccacaaacg	7	19	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74912515T>C	uc010uln.1	+	3	1223	c.762T>C	c.(760-762)CAT>CAC	p.H254H	CLK3_uc002ayg.3_Silent_p.H106H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.H254H|CLK3_uc002ayj.3_Silent_p.H106H|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	254	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						CCCGCAAGCATGCCCACCACT	0.612													C	74912515	T	C	74912515	2	2	191	1	0	0	0	0	0	0	0	1	3538	1461	51	3		3	CLK3	15	74912515	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	276294	74912515	27618877	1477	104497											
CYP1A2	1544	broad.mit.edu	37	chr15	75042486	75042486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccggtgtgggctgcccGccggcgcctggcccagaatg	17	14	0	1	rs150893756	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75042486G>A	uc002ayr.1	+	2	471	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	136					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			ovary(3)|breast(1)	4					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)	TGGGCTGCCCGCCGGCGCCTG	0.617													A	75042486	G	A	75042486	3	1	191	1	0	0	0	0	1	0	0	0	4150	1087	38	1	409	1	CYP1A2	15	75042486	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	129971	75042486	27488906	1478	104498											
CYP1A2	1544	broad.mit.edu	37	chr15	75047412	75047412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgtccaggcgcggctgCgcttctccatcaactgaaga	10	13	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75047412C>T	uc002ayr.1	+	7	1598	c.1534C>T	c.(1534-1536)CGC>TGC	p.R512C		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	511				R -> LP (in Ref. 2; AAA35738).	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			ovary(3)|breast(1)	4					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)	GGCGCGGCTGCGCTTCTCCAT	0.602													T	75047412	C	T	75047412	3	4	191	1	0	0	0	0	1	0	0	0	4150	768	27	1	1556	1	CYP1A2	15	75047412	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4926	75047412	27483980	1479	104499											
SCAMP5	192683	broad.mit.edu	37	chr15	75308975	75308975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacctggtgggctgtctcGcgtggctgatcggaggcggg	19	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75308975G>A	uc002azk.1	+	4	340	c.178G>A	c.(178-180)GCG>ACG	p.A60T	SCAMP5_uc002azl.1_Missense_Mutation_p.A60T|SCAMP5_uc002azm.1_Missense_Mutation_p.A60T|SCAMP5_uc002azn.1_Missense_Mutation_p.A60T|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	60	Helical; (Potential).				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			ovary(1)	1						GGGCTGTCTCGCGTGGCTGAT	0.612													A	75308975	G	A	75308975	3	1	191	1	0	0	0	0	1	0	0	0	13874	1087	38	1	188	1	SCAMP5	15	75308975	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	261563	75308975	27222417	1480	104500											
CSPG4	1464	broad.mit.edu	37	chr15	75968067	75968067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccagccaggccgttgcGgggcttggcagtcaggacct	15	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75968067G>A	uc002baw.2	-	10	6886	c.6793C>T	c.(6793-6795)CGC>TGC	p.R2265C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2265	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						AGGCCGTTGCGGGGCTTGGCA	0.652													A	75968067	G	A	75968067	3	1	191	1	0	0	0	0	1	0	0	0	3960	1116	39	1	179	1	CSPG4	15	75968067	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	659092	75968067	26563325	1481	104501											
CSPG4	1464	broad.mit.edu	37	chr15	75981657	75981657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctcacaggcagagtcCgggtcataggcctggaaaac	13	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75981657C>T	uc002baw.2	-	3	1842	c.1749G>A	c.(1747-1749)CCG>CCA	p.P583P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	583	Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|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			ovary(2)|pancreas(1)	3						AGGCAGAGTCCGGGTCATAGG	0.642													T	75981657	C	T	75981657	2	4	191	1	0	0	0	0	0	0	0	1	3960	639	23	1		1	CSPG4	15	75981657	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	13590	75981657	26549735	1482	104502											
SGK269	79834	broad.mit.edu	37	chr15	77426055	77426055	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctcccttgggctgtcgTggctgcttgggaggtatcat	14	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:77426055T>C	uc002bcm.2	-	5	3677	c.3369A>G	c.(3367-3369)CCA>CCG	p.P1123P		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1123					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TGGGCTGTCGTGGCTGCTTGG	0.453													C	77426055	T	C	77426055	2	2	191	1	0	0	0	0	0	0	0	1	14211	1683	59	3		3	SGK269	15	77426055	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1444398	77426055	25105337	1483	104503											
CHRNA3	1136	broad.mit.edu	37	chr15	78894011	78894011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtagtgcacgttgagcaCgaagacggtgatgacgatgg	15	7	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:78894011C>T	uc002bec.2	-	5	1159	c.973G>A	c.(973-975)GTG>ATG	p.V325M	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.V325M	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	325	Helical; (Potential).				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)|ovary(1)	4						ACGTTGAGCACGAAGACGGTG	0.522													T	78894011	C	T	78894011	3	4	191	1	0	0	0	0	1	0	0	0	3384	536	19	1	637	1	CHRNA3	15	78894011	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1467956	78894011	23637381	1484	104504											
FAM108C1	58489	broad.mit.edu	37	chr15	81041945	81041945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgaggtatgaatgcgcaGcggtaattctccattcccct	9	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:81041945G>A	uc002bfu.2	+	2	801	c.682G>A	c.(682-684)GCG>ACG	p.A228T	FAM108C1_uc002bft.2_Intron	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	hypothetical protein LOC58489	228							hydrolase activity				0						TGAATGCGCAGCGGTAATTCT	0.507													A	81041945	G	A	81041945	3	1	191	1	0	0	0	0	1	0	0	0	5393	971	34	2	688	2	FAM108C1	15	81041945	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2147934	81041945	21489447	1485	104505											
TMC3	342125	broad.mit.edu	37	chr15	81666342	81666342	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagctcacctgagcagcagaGattcctggtagaggtagcac	12	11	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:81666342G>A	uc002bgo.1	-	1	77	c.77C>T	c.(76-78)TCT>TTT	p.S26F	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.S26F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	26	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						GAGCAGCAGAGATTCCTGGTA	0.557													A	81666342	G	A	81666342	3	1	191	1	0	0	0	0	1	0	0	0	15983	942	33	4	3313	4	TMC3	15	81666342	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	624397	81666342	20865050	1486	104506											
FAM154B	283726	broad.mit.edu	37	chr15	82564031	82564031	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagggaagattgatcttggTactacctacaaacgggattt	10	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:82564031T>C	uc002bgv.2	+	2	210	c.141T>C	c.(139-141)GGT>GGC	p.G47G	FAM154B_uc010unr.1_Silent_p.G32G|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	47										skin(2)	2						TTGATCTTGGTACTACCTACA	0.393													C	82564031	T	C	82564031	2	2	191	1	0	0	0	0	0	0	0	1	5464	1625	57	3		3	FAM154B	15	82564031	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	897689	82564031	19967361	1487	104507											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651204	84651204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcgacgattccagaaaTctctgatccagtgggagaag	12	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:84651204T>C	uc002bjz.3	+	21	3048	c.2824T>C	c.(2824-2826)TCT>CCT	p.S942P	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S942P|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.S942P	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	942	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTCCAGAAATCTCTGATCCA	0.512													C	84651204	T	C	84651204	3	2	191	1	0	0	0	0	1	0	0	0	276	1435	50	3	2902	3	ADAMTSL3	15	84651204	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2087173	84651204	17880188	1488	104508											
AGBL1	123624	broad.mit.edu	37	chr15	87531267	87531268	+	Frame_Shift_Ins	INS	-	-	T													tatttggtttgcttaccactINStttttgccattacaaacttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:87531266_87531267C>CT	uc002blz.1	+	22	3212_3213	c.3132_3133C>CT	c.(3130-3135)cactttfs	p.H1044fs		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	1044					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						ttgcttaccacttttttgccat	0.386													T	87531268	-	T	87531267	7	5	191	1	0	1	1	0	0	0	0	0	375	1609	56	0	3219	0	AGBL1	15	87531267	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	2880063	87531267	15000125	1489	104509											
FANCI	55215	broad.mit.edu	37	chr15	89848354	89848354	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctattcctagaggatgccTtgttttgcaagagcttgatg	10	8	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:89848354T>C	uc010bnp.1	+	29	3157	c.3067T>C	c.(3067-3069)TTG>CTG	p.L1023L	FANCI_uc002bnm.1_Silent_p.L963L|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.L784L|FANCI_uc002bnq.1_Silent_p.L436L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1023					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAGGATGCCTTGTTTTGCAA	0.323								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	89848354	T	C	89848354	2	2	191	1	0	0	0	0	0	0	0	1	5669	1606	56	3		3	FANCI	15	89848354	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2317087	89848354	12683038	1490	104510											
AP3S2	10239	broad.mit.edu	37	chr15	90451554	90451554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttcaccttcctggtggCgctgaagttgggctcgattt	13	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90451554C>T	uc002bos.3	-	3	414	c.259G>A	c.(259-261)GCC>ACC	p.A87T	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.A87T	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	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)			TTCCTGGTGGCGCTGAAGTTG	0.592													T	90451554	C	T	90451554	3	4	191	1	0	0	0	0	1	0	0	0	750	768	27	1		1	AP3S2	15	90451554	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	603200	90451554	12079838	1491	104511											
IDH2	3418	broad.mit.edu	37	chr15	90631918	90631918	+	Frame_Shift_Del	DEL	C	C	-													atgggctcccggaagacagtCccccccaggatgttccggat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90631917_90631917TC>T	uc002box.3	-	3	522	c.436_436GA>A	c.(436-438)actfs	p.T146fs	IDH2_uc010uqb.2_Frame_Shift_Del_p.T94fs|IDH2_uc010uqc.2_Frame_Shift_Del_p.T16fs	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	146					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion 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)			CGGAAGACAGTCCCCCCCAGG	0.562			M		GBM								-	90631918	C	-	90631918	7	5	191	1	0	1	0	1	0	0	0	0	7495	842	30	0	955	0	IDH2	15	90631918	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	180364	90631918	11899474	1492	104512											
TTLL13	440307	broad.mit.edu	37	chr15	90799471	90799471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtggcatcttcattacccGaaatccccgggagatcaagc	9	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90799471G>A	uc002bpd.1	+	6	935	c.647G>A	c.(646-648)CGA>CAA	p.R216Q	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	216	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	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)			TTCATTACCCGAAATCCCCGG	0.547													A	90799471	G	A	90799471	3	1	191	1	0	0	0	0	1	0	0	0	16723	1058	37	1	665	1	TTLL13	15	90799471	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	167553	90799471	11731921	1493	104513											
TTLL13	440307	broad.mit.edu	37	chr15	90800412	90800412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgatatgcgagtctacGtcctgatcacatcctgtgac	9	10	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90800412G>A	uc002bpd.1	+	7	1036	c.748G>A	c.(748-750)GTC>ATC	p.V250I	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	250	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	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)			GCGAGTCTACGTCCTGATCAC	0.453													A	90800412	G	A	90800412	3	1	191	1	0	0	0	0	1	0	0	0	16723	1145	40	1	770	1	TTLL13	15	90800412	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	941	90800412	11730980	1494	104514											
RGMA	56963	broad.mit.edu	37	chr15	93595502	93595502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgcgcaggcgtggctgCgaggtggggccatccttgga	19	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:93595502C>T	uc002bss.1	-	3	638	c.366G>A	c.(364-366)TCG>TCA	p.S122S	RGMA_uc002bsq.1_Silent_p.S106S|RGMA_uc010boi.1_Silent_p.S13S|RGMA_uc002bsr.1_Silent_p.S13S|RGMA_uc010urc.1_Silent_p.S130S	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	122					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCGTGGCTGCGAGGTGGGGC	0.667													T	93595502	C	T	93595502	2	4	191	1	0	0	0	0	0	0	0	1	13280	755	27	1		1	RGMA	15	93595502	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2795090	93595502	8935890	1495	104515											
IGF1R	3480	broad.mit.edu	37	chr15	99500476	99500476	+	Frame_Shift_Del	DEL	C	C	-													ccagagaacatggagagcgtCcccctggacccctcggcctc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:99500476delC	uc002bul.2	+	21	3959	c.3909delC	c.(3907-3909)GTCfs	p.V1303fs	IGF1R_uc010bon.2_Frame_Shift_Del_p.V1302fs	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1303	Cytoplasmic (Potential).				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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	TGGAGAGCGTCCCCCTGGACC	0.672													-	99500476	C	-	99500476	7	5	191	1	0	1	0	1	0	0	0	0	7571	842	30	0	3991	0	IGF1R	15	99500476	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	5904974	99500476	3030916	1496	104516											
PGPEP1L	145814	broad.mit.edu	37	chr15	99511846	99511846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctggccgggagcccgcgcGatagtggagggacatggatg	20	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:99511846G>A	uc002bum.2	-	5	658	c.452C>T	c.(451-453)TCG>TTG	p.S151L	PGPEP1L_uc010bop.2_Missense_Mutation_p.R96C|PGPEP1L_uc002bun.2_RNA	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase 1-like protein	151					proteolysis		cysteine-type peptidase activity				0						GAGCCCGCGCGATAGTGGAGG	0.557													A	99511846	G	A	99511846	3	1	191	1	0	0	0	0	1	0	0	0	11804	1059	37	1	142	1	PGPEP1L	15	99511846	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	11370	99511846	3019546	1497	104517											
LRRK1	79705	broad.mit.edu	37	chr15	101569367	101569367	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggggactggcttcacgCagcagacggaagagcagtac	16	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101569367C>T	uc002bwr.2	+	20	3212	c.2893C>T	c.(2893-2895)CAG>TAG	p.Q965*	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	965					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			TGGCTTCACGCAGCAGACGGA	0.552													T	101569367	C	T	101569367	4	4	191	1	0	0	0	0	0	1	0	0	9032	711	25	2	2967	2	LRRK1	15	101569367	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2057521	101569367	962025	1498	104518											
LRRK1	79705	broad.mit.edu	37	chr15	101606891	101606891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggagaaggattctggcGcccagcggggccgagtcatt	16	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101606891G>A	uc002bwr.2	+	33	6134	c.5815G>A	c.(5815-5817)GCC>ACC	p.A1939T	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1939					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			GGATTCTGGCGCCCAGCGGGG	0.582													A	101606891	G	A	101606891	3	1	191	1	0	0	0	0	1	0	0	0	9032	1087	38	1	5941	1	LRRK1	15	101606891	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	37524	101606891	924501	1499	104519											
CHSY1	22856	broad.mit.edu	37	chr15	101717648	101717648	+	Frame_Shift_Del	DEL	T	T	-													ttttactgtaacttggatcaTttttttccagccacatctca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101717647_101717647AT>A	uc021sxt.1	-	2	2831	c.2355_2355AT>T	c.(2353-2355)aatfs	p.N785fs	CHSY1_uc010usd.2_Frame_Shift_Del_p.N513fs	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	785					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			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)			AACTTGGATCATTTTTTTCCA	0.423													-	101717648	T	-	101717648	7	5	191	1	0	1	0	1	0	0	0	0	3412	1493	52	0	58	0	CHSY1	15	101717648	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	110757	101717648	813744	1500	104520											
SNRPA1	6627	broad.mit.edu	37	chr15	101821975	101821975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctcttcttcaccaTcatcagtgggccctaaagaa	5	14	5	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101821975T>C	uc002bww.2	-	9	799	c.722A>G	c.(721-723)GAT>GGT	p.D241G	SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	241						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCTTCACCATCATCAGTGGG	0.333													C	101821975	T	C	101821975	3	2	191	1	0	0	0	0	1	0	0	0	14860	1435	50	3	49	3	SNRPA1	15	101821975	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	104327	101821975	709417	1501	104521											
AXIN1	8312	broad.mit.edu	37	chr16	338151	338153	+	In_Frame_Del	DEL	TCT	TCT	-													cttctccactttgccgatgaTcttctcctcaaagacgggca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:338150_338152ATCT>A	uc002cgp.2	-	10	2948_2950	c.2559_2561AGAT>T	c.(2557-2562)aagatc>aaTc	p.853_854KI>N	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_In_Frame_Del_p.817_818KI>N	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	853	DIX.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|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	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	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.E852G(1)		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)				TTTGCCGATGATCTTCTCCTCAA	0.601													-	338153	TCT	-	338151	7	5	191	1	0	1	0	1	0	0	0	0	1236	1435	50	0	32	0	AXIN1	16	338151	In_Frame_Del	DEL	TCT	TCGA-CG-5723-01A-11D-1600-08		338151	90016602	1502	104522											
AXIN1	8312	broad.mit.edu	37	chr16	338227	338227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccacagtcaaactcgtcGctcactttcttgaagtagta	6	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:338227G>A	uc002cgp.1	-	11	2661	c.2484C>T	c.(2482-2484)AGC>AGT	p.S828S	AXIN1_uc002cgq.1_Silent_p.S792S	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	828	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			breast(1)|liver(1)	2		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)				CAAACTCGTCGCTCACTTTCT	0.592													A	338227	G	A	338227	2	1	191	1	0	0	0	0	0	0	0	1	1236	1078	38	1		1	AXIN1	16	338227	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	76	338227	90016526	1503	104523											
MRPL28	10573	broad.mit.edu	37	chr16	418565	418565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagctgggggtcctgcCgggcaagccgcagcagcatc	17	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:418565C>T	uc002cgr.1	-	3	528	c.512G>A	c.(511-513)CGG>CAG	p.R171Q	MRPL28_uc010bqu.1_Missense_Mutation_p.R171Q|MRPL28_uc002cgs.1_Missense_Mutation_p.R171Q|MRPL28_uc002cgt.1_Missense_Mutation_p.R171Q	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	171					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGGGTCCTGCCGGGCAAGCCG	0.662													T	418565	C	T	418565	3	4	191	1	0	0	0	0	1	0	0	0	9792	652	23	1	270	1	MRPL28	16	418565	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	80338	418565	89936188	1504	104524											
RHOT2	89941	broad.mit.edu	37	chr16	722950	722950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattacatggacgggcagaCcccctgcctctttgtctcct	8	16	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:722950C>T	uc002cip.2	+	18	1617	c.1550C>T	c.(1549-1551)ACC>ATC	p.T517I	RHOT2_uc002ciq.2_Missense_Mutation_p.T410I|RHOT2_uc010bqy.2_Missense_Mutation_p.T296I|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	517	Miro 2.|Mitochondrial intermembrane (Potential).				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			pancreas(1)	1		Hepatocellular(780;0.0218)				GACGGGCAGACCCCCTGCCTC	0.652													T	722950	C	T	722950	3	4	191	1	0	0	0	0	1	0	0	0	13344	507	18	4	1620	4	RHOT2	16	722950	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	304385	722950	89631803	1505	104525											
RPUSD1	113000	broad.mit.edu	37	chr16	836152	836152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcacgagctggtccagcGactgcagcagtgtgtggggg	17	11	0	0	rs147626249		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:836152G>A	uc002cka.2	-	5	971	c.737C>T	c.(736-738)TCG>TTG	p.S246L	RPUSD1_uc002ckb.2_Missense_Mutation_p.S246L|RPUSD1_uc002ckc.2_Missense_Mutation_p.S117L|RPUSD1_uc002ckd.2_3'UTR|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing	246					pseudouridine synthesis		pseudouridine synthase activity|RNA binding				0		Hepatocellular(780;0.00335)				CTGGTCCAGCGACTGCAGCAG	0.711													A	836152	G	A	836152	3	1	191	1	0	0	0	0	1	0	0	0	13666	1059	37	1	205	1	RPUSD1	16	836152	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	113202	836152	89518601	1506	104526											
TPSD1	23430	broad.mit.edu	37	chr16	1306669	1306669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccagtgggtgctaaccGcggcgcactgcgtggaaccg	14	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1306669G>A	uc002clb.1	+	2	244	c.235G>A	c.(235-237)GCG>ACG	p.A79T	TPSD1_uc010brm.1_Missense_Mutation_p.A17T	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GGTGCTAACCGCGGCGCACTG	0.697													A	1306669	G	A	1306669	3	1	191	1	0	0	0	0	1	0	0	0	16422	1087	38	1	241	1	TPSD1	16	1306669	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	470517	1306669	89048084	1507	104527											
BAIAP3	8938	broad.mit.edu	37	chr16	1391384	1391384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagcagcgcttcggcTtccgcaagggcagcaagcgc	15	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1391384T>G	uc002clk.1	+	8	730	c.730T>G	c.(730-732)TTC>GTC	p.F244V	BAIAP3_uc002clj.2_Missense_Mutation_p.F226V|BAIAP3_uc010uuz.1_Missense_Mutation_p.F209V|BAIAP3_uc010uva.1_Missense_Mutation_p.F181V|BAIAP3_uc010uvb.1_Missense_Mutation_p.F261V|BAIAP3_uc010uvc.1_Missense_Mutation_p.F209V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	244	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GCGCTTCGGCTTCCGCAAGGG	0.667													G	1391384	T	G	1391384	3	3	191	1	0	0	0	0	1	0	0	0	1304	1609	56	5	760	5	BAIAP3	16	1391384	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	84715	1391384	88963369	1508	104528											
PTX4	390667	broad.mit.edu	37	chr16	1537332	1537332	+	Frame_Shift_Del	DEL	G	G	-													cttactctctcctggcacctGgggggaccatgcctgctgcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1537331_1537331TG>T	uc010uvf.2	-	1	767	c.767_767CA>A	c.(766-768)cagfs	p.Q256fs		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	261						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						TCCTGGCACCTGGGGGGACCA	0.642													-	1537332	G	-	1537332	7	5	191	1	0	1	0	1	0	0	0	0	12823	1357	47	0	662	0	PTX4	16	1537332	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	145948	1537332	88817421	1509	104529											
TMEM204	79652	broad.mit.edu	37	chr16	1604942	1604942	+	Frame_Shift_Del	DEL	C	C	-													caagagggaggactgcatggCcccccgggtgattgtcatca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1604941_1604941GC>G	uc002cmc.2	+	3	993	c.595_595GC>G	c.(595-597)gccfs	p.A199fs	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Frame_Shift_Del_p.A199fs|TMEM204_uc010brr.1_Frame_Shift_Del_p.A199fs|BC114455_uc010brs.1_5'Flank	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	199					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				GGACTGCATGGCCCCCCGGGT	0.617													-	1604942	C	-	1604942	7	5	191	1	0	1	0	1	0	0	0	0	16126	739	26	0	606	0	TMEM204	16	1604942	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	67610	1604942	88749811	1510	104530											
CRAMP1L	57585	broad.mit.edu	37	chr16	1712579	1712579	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggcctttttgctgtcccGacaaccttgccacccaacag	9	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1712579G>A	uc010uvh.1	+	11	2502	c.2502G>A	c.(2500-2502)CCG>CCA	p.P834P	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	834						nucleus	DNA binding				0						TTGCTGTCCCGACAACCTTGC	0.557													A	1712579	G	A	1712579	2	1	191	1	0	0	0	0	0	0	0	1	3846	1045	37	1		1	CRAMP1L	16	1712579	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	107637	1712579	88642174	1511	104531											
EME2	197342	broad.mit.edu	37	chr16	1824335	1824335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaggagtttctgcagggCgtcgccacactgacccaggt	13	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1824335C>T	uc002cmq.1	+	3	459	c.459C>T	c.(457-459)GGC>GGT	p.G153G	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.G153G	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	153					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						TTCTGCAGGGCGTCGCCACAC	0.662								Direct_reversal_of_damage|Homologous_recombination					T	1824335	C	T	1824335	2	4	191	1	0	0	0	0	0	0	0	1	5089	755	27	1		1	EME2	16	1824335	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	111756	1824335	88530418	1512	104532											
SPSB3	90864	broad.mit.edu	37	chr16	1827312	1827312	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctggccgcagctggcgcAggcggtggcagcacaggtac	17	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1827312A>C	uc002cmr.2	-	6	887	c.854T>G	c.(853-855)CTG>CGG	p.L285R	SPSB3_uc002cms.2_Missense_Mutation_p.L157R|SPSB3_uc002cmt.2_Missense_Mutation_p.L157R|SPSB3_uc002cmu.2_Missense_Mutation_p.L285R|SPSB3_uc002cmv.2_Missense_Mutation_p.L157R	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	285	SOCS box.				intracellular signal transduction						0						CAGCTGGCGCAGGCGGTGGCA	0.682													C	1827312	A	C	1827312	3	2	191	1	0	0	0	0	1	0	0	0	15113	188	7	5	217	5	SPSB3	16	1827312	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2977	1827312	88527441	1513	104533											
C16orf59	80178	broad.mit.edu	37	chr16	2514081	2514081	+	Frame_Shift_Del	DEL	C	C	-													gaccatgtcctgtggggaggCcccccggagcctcgccgtcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2514080_2514080GC>G	uc002cqh.3	+	8	1036	c.1005_1005GC>G	c.(1003-1005)aggfs	p.R335fs	C16orf59_uc002cqg.2_Frame_Shift_Del_p.R168fs|C16orf59_uc002cqi.3_Frame_Shift_Del_p.R168fs|C16orf59_uc010uwb.2_Intron	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	335										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGTGGGGAGGCCCCCCGGAG	0.672													-	2514081	C	-	2514081	7	5	191	1	0	1	0	1	0	0	0	0	1823	739	26	0	1040	0	C16orf59	16	2514081	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	686769	2514081	87840672	1514	104534											
TBC1D24	57465	broad.mit.edu	37	chr16	2546053	2546053	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtgagatggcagacaGgtttgcaggaaaccctcaga	15	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2546053G>T	uc002cql.2	+	2	44	c.-96G>T	c.(-98--94)CAGGT>CATGT		TBC1D24_uc002cqk.2_Translation_Start_Site|TBC1D24_uc002cqm.2_Translation_Start_Site|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24						neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						ATGGCAGACAGGTTTGCAGGA	0.498													T	2546053	G	T	2546053	1	4	191	1	0	0	0	0	0	0	0	0	15611	1015	35	5		5	TBC1D24	16	2546053	Translation_Start_Site	SNP	G	TCGA-CG-5723-01A-11D-1600-08	31972	2546053	87808700	1515	104535											
AMDHD2	51005	broad.mit.edu	37	chr16	2577818	2577818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccgggagaagcggggcGcgcaccccgaggcccacctc	15	17	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2577818G>A	uc002cqq.2	+	5	557	c.460G>A	c.(460-462)GCG>ACG	p.A154T	AMDHD2_uc002cqp.2_Missense_Mutation_p.A154T|AMDHD2_uc010uwc.1_Missense_Mutation_p.A154T|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	154				A -> T (in Ref. 1; AAD27723).	N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						GAAGCGGGGCGCGCACCCCGA	0.692													A	2577818	G	A	2577818	3	1	191	1	0	0	0	0	1	0	0	0	568	1087	38	1	478	1	AMDHD2	16	2577818	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	31765	2577818	87776935	1516	104536											
CEMP1	752014	broad.mit.edu	37	chr16	2580785	2580785	+	Frame_Shift_Del	DEL	G	G	-													gggcctggggcagggcacaaGgggttgatctcagcccacaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2580784_2580784AG>A	uc002cqr.3	-	0	626	c.291_291CT>T	c.(289-291)cctfs	p.P97fs	AMDHD2_uc010uwc.2_3'UTR|AMDHD2_uc010uwd.2_3'UTR	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	Homo sapiens cementum protein 1 (CEMP1), mRNA.	97						cytoplasm				lung(1)|skin(1)	2						GCAGGGCACAAGGGGTTGATC	0.647													-	2580785	G	-	2580785	7	5	191	1	0	1	0	1	0	0	0	0	3224	1000	35	0	457	0	CEMP1	16	2580785	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2967	2580785	87773968	1517	104537											
SRRM2	23524	broad.mit.edu	37	chr16	2810378	2810378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcttcagggcgacgcGgggagggagatgcgcctttc	16	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2810378G>A	uc002crk.2	+	10	1459	c.910G>A	c.(910-912)GGG>AGG	p.G304R	SRRM2_uc002crj.1_Missense_Mutation_p.G208R|SRRM2_uc002crl.1_Missense_Mutation_p.G304R|SRRM2_uc010bsu.1_Missense_Mutation_p.G208R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	304	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGGCGACGCGGGGAGGGAGA	0.562													A	2810378	G	A	2810378	3	1	191	1	0	0	0	0	1	0	0	0	15168	1116	39	1	944	1	SRRM2	16	2810378	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	229593	2810378	87544375	1518	104538											
ZNF213	7760	broad.mit.edu	37	chr16	3191292	3191292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagagcttcaagcagcgcGcgcacctcatcgcgcatcag	10	15	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:3191292G>A	uc010uws.1	+	6	1771	c.1324G>A	c.(1324-1326)GCG>ACG	p.A442T	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.A442T|ZNF213_uc010uwt.1_3'UTR|uc002cuf.1_5'Flank	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	442	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGCAGCGCGCGCACCTCAT	0.687													A	3191292	G	A	3191292	3	1	191	1	0	0	0	0	1	0	0	0	17766	1087	38	1	1342	1	ZNF213	16	3191292	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	380914	3191292	87163461	1519	104539											
CORO7	79585	broad.mit.edu	37	chr16	4463375	4463375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttcctgcatgaaggggCggttcctgctcgaatgtcac	14	10	1	1	rs143239749	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4463375C>T	uc002cwh.3	-	2	211	c.91G>A	c.(91-93)GCC>ACC	p.A31T	CORO7_uc002cwf.2_Missense_Mutation_p.A31T|CORO7_uc002cwg.3_5'UTR|CORO7_uc010uxh.1_Missense_Mutation_p.A31T|CORO7_uc010uxi.1_Missense_Mutation_p.A31T|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_Intron	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	31						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CATGAAGGGGCGGTTCCTGCT	0.502													T	4463375	C	T	4463375	3	4	191	1	0	0	0	0	1	0	0	0	3759	768	27	1	2794	1	CORO7	16	4463375	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1272083	4463375	85891378	1520	104540											
MGRN1	23295	broad.mit.edu	37	chr16	4700454	4700454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttggagagaacatggaTctgaacttcctgggcagccg	12	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4700454T>C	uc002cwz.2	+	2	313	c.177T>C	c.(175-177)GAT>GAC	p.D59D	MGRN1_uc002cxa.2_Silent_p.D59D|MGRN1_uc010btx.2_Silent_p.D59D|MGRN1_uc010btw.2_Silent_p.D59D|MGRN1_uc002cxb.2_Silent_p.D59D|MGRN1_uc010uxo.1_Silent_p.D59D|MGRN1_uc010uxp.1_Silent_p.D59D|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	59					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|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						AGAACATGGATCTGAACTTCC	0.567													C	4700454	T	C	4700454	2	2	191	1	0	0	0	0	0	0	0	1	9559	1432	50	3		3	MGRN1	16	4700454	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	237079	4700454	85654299	1521	104541											
PPL	5493	broad.mit.edu	37	chr16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-													gccagggcctcagggtctgtGggggggatcacaaaacacac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4944499_4944499TG>T	uc002cyd.1	-	11	1453	c.1363_1363CA>A	c.(1363-1365)acafs	p.T455fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	455					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(2)		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						TCAGGGTCTGTGGGGGGGATC	0.612													-	4944500	G	-	4944500	7	5	191	1	0	1	0	1	0	0	0	0	12334	1335	47	0	3952	0	PPL	16	4944500	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	244046	4944500	85410253	1522	104542											
PPL	5493	broad.mit.edu	37	chr16	4950862	4950862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtacttggcccggagttcgCtgttctgctcctgaggacag	14	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4950862C>A	uc002cyd.1	-	6	665	c.575G>T	c.(574-576)AGC>ATC	p.S192I		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	192	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CCGGAGTTCGCTGTTCTGCTC	0.667													A	4950862	C	A	4950862	3	1	191	1	0	0	0	0	1	0	0	0	12334	797	28	5	4763	5	PPL	16	4950862	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6362	4950862	85403891	1523	104543											
ERCC4	2072	broad.mit.edu	37	chr16	14042196	14042196	+	Frame_Shift_Del	DEL	A	A	-													tcgtatcaaaaggaaaagggAaaaagtgaacagtgatggct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:14042195_14042195GA>G	uc002dce.2	+	10	2751	c.2742_2742GA>G	c.(2740-2742)gggfs	p.G914fs	ERCC4_uc010uyz.1_Frame_Shift_Del_p.G464fs	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	914	Interaction with EME1 and ERCC1.				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						AAGGAAAAGGGAAAAAGTGAA	0.408			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				-	14042196	A	-	14042196	7	5	191	1	0	1	0	1	0	0	0	0	5215	247	9	0	2785	0	ERCC4	16	14042196	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	9091334	14042196	76312557	1524	104544											
MKL2	57496	broad.mit.edu	37	chr16	14346300	14346301	+	Frame_Shift_Ins	INS	-	-	C													agtcgccaagacaaaagatcINSccccccgctatgaggaggcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:14346299_14346300T>TC	uc010uza.2	+	14	2798_2799	c.2643_2644T>TC	c.(2641-2646)gatcccfs	p.D881fs	MKL2_uc002dcg.3_Frame_Shift_Ins_p.D831fs|MKL2_uc002dcj.3_Frame_Shift_Ins_p.D126fs	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	870					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						AGACAAAAGATCCCCCCCGCTA	0.564													C	14346301	-	C	14346300	7	5	191	1	0	1	1	0	0	0	0	0	9602	855	30	0	2544	0	MKL2	16	14346300	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	304104	14346300	76008453	1525	104545											
BFAR	51283	broad.mit.edu	37	chr16	14743706	14743706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcagggaatctgaacacGacctcctggtccacaaggct	11	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:14743706G>A	uc002dco.2	+	4	795	c.514G>A	c.(514-516)GAC>AAC	p.D172N	BFAR_uc002dcm.2_Missense_Mutation_p.D172N|BFAR_uc002dcn.2_Silent_p.T103T|BFAR_uc002dcp.2_Intron|BFAR_uc010uzh.1_Missense_Mutation_p.D44N	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	172	Lumenal (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						ATCTGAACACGACCTCCTGGT	0.552													A	14743706	G	A	14743706	3	1	191	1	0	0	0	0	1	0	0	0	1414	1058	37	1	524	1	BFAR	16	14743706	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	397406	14743706	75611047	1526	104546											
NDE1	54820	broad.mit.edu	37	chr16	15788062	15788062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacccccctcacacctgcGgcccggatatcagccctcaa	9	19	3	0	rs1123418		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15788062G>A	uc002ddt.1	+	6	787	c.744G>A	c.(742-744)GCG>GCA	p.A248A	NDE1_uc010uzy.1_Silent_p.A248A|NDE1_uc002dds.2_Silent_p.A248A|NDE1_uc002ddu.1_Silent_p.A185A	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	248	Interaction with CENPF (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			ovary(1)	1						TCACACCTGCGGCCCGGATAT	0.572													A	15788062	G	A	15788062	2	1	191	1	0	0	0	0	0	0	0	1	10243	1103	39	1		1	NDE1	16	15788062	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1044356	15788062	74566691	1527	104547											
MYH11	4629	broad.mit.edu	37	chr16	15811163	15811163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactctcattcttctgggCcgtgctgcgctctgtggcca	12	14	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15811163C>T	uc002ddy.2	-	38	5445	c.5338G>A	c.(5338-5340)GCC>ACC	p.A1780T	MYH11_uc002ddv.2_Missense_Mutation_p.A1787T|MYH11_uc002ddw.2_Missense_Mutation_p.A1780T|MYH11_uc002ddx.2_Missense_Mutation_p.A1787T|MYH11_uc010bvg.2_Missense_Mutation_p.A1612T|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.A486T	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1780	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTCTTCTGGGCCGTGCTGCGC	0.637			T	CBFB	AML								T	15811163	C	T	15811163	3	4	191	1	0	0	0	0	1	0	0	0	10031	739	26	2	631	2	MYH11	16	15811163	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	23101	15811163	74543590	1528	104548											
MYH11	4629	broad.mit.edu	37	chr16	15814829	15814829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtggcttgcagctcgTcctccagctcttccagctgc	9	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15814829T>C	uc002ddy.2	-	33	4765	c.4658A>G	c.(4657-4659)GAC>GGC	p.D1553G	MYH11_uc002ddv.2_Missense_Mutation_p.D1560G|MYH11_uc002ddw.2_Missense_Mutation_p.D1553G|MYH11_uc002ddx.2_Missense_Mutation_p.D1560G|MYH11_uc010bvg.2_Missense_Mutation_p.D1385G|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.D259G|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1553	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTGCAGCTCGTCCTCCAGCTC	0.637			T	CBFB	AML								C	15814829	T	C	15814829	3	2	191	1	0	0	0	0	1	0	0	0	10031	1667	58	3	1331	3	MYH11	16	15814829	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3666	15814829	74539924	1529	104549											
MYH11	4629	broad.mit.edu	37	chr16	15853542	15853542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtatccagcggaaaaggCgctcatatgttgccttggcc	12	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15853542C>T	uc002ddy.2	-	12	1399	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	MYH11_uc002ddv.2_Missense_Mutation_p.R438H|MYH11_uc002ddw.2_Missense_Mutation_p.R431H|MYH11_uc002ddx.2_Missense_Mutation_p.R438H|MYH11_uc010bvg.2_Missense_Mutation_p.R263H|MYH11_uc002dea.1_Missense_Mutation_p.R137H	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	431	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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCGGAAAAGGCGCTCATATGT	0.537			T	CBFB	AML								T	15853542	C	T	15853542	3	4	191	1	0	0	0	0	1	0	0	0	10031	768	27	1	4781	1	MYH11	16	15853542	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	38713	15853542	74501211	1530	104550											
ABCC6	368	broad.mit.edu	37	chr16	16267261	16267261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggactgacttgatggaCctgtcatttagaggaaatga	12	6	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:16267261C>T	uc002den.3	-	21	2704	c.2667G>A	c.(2665-2667)AGG>AGA	p.R889R	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	889	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACTTGATGGACCTGTCATTTA	0.542													T	16267261	C	T	16267261	2	4	191	1	0	0	0	0	0	0	0	1	57	521	18	4		4	ABCC6	16	16267261	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	413719	16267261	74087492	1531	104551											
XYLT1	64131	broad.mit.edu	37	chr16	17202689	17202689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagatgtccatggcagTccacatcccgcccaccaacg	9	17	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:17202689T>C	uc002dfa.2	-	12	2828	c.2743A>G	c.(2743-2745)ACT>GCT	p.T915A		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	915	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						TCCATGGCAGTCCACATCCCG	0.677													C	17202689	T	C	17202689	3	2	191	1	0	0	0	0	1	0	0	0	17460	1667	58	3	140	3	XYLT1	16	17202689	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	935428	17202689	73152064	1532	104552											
SYT17	51760	broad.mit.edu	37	chr16	19278340	19278340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtggagcagtggcataGcctgaggtcccgagctgagt	16	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:19278340G>A	uc002dfw.2	+	8	1698	c.1367G>A	c.(1366-1368)AGC>AAC	p.S456N	SYT17_uc002dfx.2_Missense_Mutation_p.S395N|SYT17_uc002dfy.2_Missense_Mutation_p.S452N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	456						membrane|synaptic vesicle	transporter activity			ovary(1)	1						CAGTGGCATAGCCTGAGGTCC	0.577													A	19278340	G	A	19278340	3	1	191	1	0	0	0	0	1	0	0	0	15470	971	34	2	1397	2	SYT17	16	19278340	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2075651	19278340	71076413	1533	104553											
PDILT	204474	broad.mit.edu	37	chr16	20380924	20380924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaagtttaggatttggaCggatgggatatcgacctctg	13	7	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:20380924C>T	uc002dhc.1	-	8	1229	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	336					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AGGATTTGGACGGATGGGATA	0.468													T	20380924	C	T	20380924	3	4	191	1	0	0	0	0	1	0	0	0	11674	536	19	1	768	1	PDILT	16	20380924	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1102584	20380924	69973829	1534	104554											
UQCRC2	7385	broad.mit.edu	37	chr16	21983256	21983256	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccccaggtgaaatccgagAacagaatggagacagtcttg	13	9	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:21983256A>T	uc002djx.2	+	10	915	c.779A>T	c.(778-780)GAA>GTA	p.E260V	UQCRC2_uc002djy.2_Missense_Mutation_p.E260V|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.E127V	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	260					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		GAAATCCGAGAACAGAATGGA	0.448													T	21983256	A	T	21983256	3	4	191	1	0	0	0	0	1	0	0	0	17017	246	9	5	817	5	UQCRC2	16	21983256	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1602332	21983256	68371497	1535	104555											
USP31	57478	broad.mit.edu	37	chr16	23091276	23091276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgcagacctgtgtagtGccccccttgcatggtgccat	10	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:23091276G>A	uc002dll.2	-	13	2167	c.2167C>T	c.(2167-2169)CAC>TAC	p.H723Y	USP31_uc010bxm.2_Intron	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	723		Proton acceptor (By similarity).			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CCTGTGTAGTGCCCCCCTTGC	0.572													A	23091276	G	A	23091276	3	1	191	1	0	0	0	0	1	0	0	0	17059	1319	46	2	1907	2	USP31	16	23091276	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1108020	23091276	67263477	1536	104556											
USP31	57478	broad.mit.edu	37	chr16	23096246	23096246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgaggctgatgatgacGctccctttgcagacgaacac	12	10	0	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:23096246G>T	uc002dll.2	-	11	1765	c.1765C>A	c.(1765-1767)CGT>AGT	p.R589S	USP31_uc010bxm.2_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	589					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGATGATGACGCTCCCTTTGC	0.458													T	23096246	G	T	23096246	3	4	191	1	0	0	0	0	1	0	0	0	17059	1087	38	5	2317	5	USP31	16	23096246	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	4970	23096246	67258507	1537	104557											
PALB2	79728	broad.mit.edu	37	chr16	23614847	23614847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaatgagagtctgtacccGaccatttcacaaaagaccaa	7	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:23614847G>A	uc002dlx.1	-	13	3694	c.3494C>T	c.(3493-3495)TCG>TTG	p.S1165L		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1165	Interaction with RAD51 and BRCA2.|WD 7.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GTCTGTACCCGACCATTTCAC	0.413			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				A	23614847	G	A	23614847	3	1	191	1	0	0	0	0	1	0	0	0	11406	1059	37	1	70	1	PALB2	16	23614847	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	518601	23614847	66739906	1538	104558											
GTF3C1	2975	broad.mit.edu	37	chr16	27539991	27539991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaccaccttggctagccCggcgttcagcatatactggt	10	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:27539991C>T	uc002dov.1	-	6	941	c.901G>A	c.(901-903)GGG>AGG	p.G301R	GTF3C1_uc002dou.2_Missense_Mutation_p.G301R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	301						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TTGGCTAGCCCGGCGTTCAGC	0.483													T	27539991	C	T	27539991	3	4	191	1	0	0	0	0	1	0	0	0	6872	652	23	1	5556	1	GTF3C1	16	27539991	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3925144	27539991	62814762	1539	104559											
KIAA0556	23247	broad.mit.edu	37	chr16	27751808	27751809	+	Frame_Shift_Del	DEL	CT	CT	-													cctcctgtccatgaggagccCtctctcatccaacaactgga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:27751807_27751808CCT>C	uc002dow.3	+	14	2213_2214	c.2189_2190CCT>C	c.(2188-2190)cccfs	p.P730fs		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	730										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						CATGAGGAGCCCTCTCTCATCC	0.554													-	27751809	CT	-	27751808	7	5	191	1	0	1	0	1	0	0	0	0	8183	668	24	0	2248	0	KIAA0556	16	27751808	Frame_Shift_Del	DEL	CT	TCGA-CG-5723-01A-11D-1600-08	211817	27751808	62602945	1540	104560											
KIAA0556	23247	broad.mit.edu	37	chr16	27784524	27784524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaaaaaatccccttgtcgGaaaacagtatcctttgtagg	9	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:27784524G>A	uc002dow.2	+	23	4327	c.4303G>A	c.(4303-4305)GAA>AAA	p.E1435K		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1435										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CCCCTTGTCGGAAAACAGTAT	0.567													A	27784524	G	A	27784524	3	1	191	1	0	0	0	0	1	0	0	0	8183	1175	41	4	4393	4	KIAA0556	16	27784524	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	32716	27784524	62570229	1541	104561											
XPO6	23214	broad.mit.edu	37	chr16	28117503	28117503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccggcagcctgtgctgCcctcgtggaggatgctctcg	13	16	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28117503C>T	uc002dpa.1	-	20	3146	c.2645G>A	c.(2644-2646)GGC>GAC	p.G882D	XPO6_uc002dpb.1_Missense_Mutation_p.G868D|XPO6_uc010vcp.1_Missense_Mutation_p.G882D	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	882					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GCCTGTGCTGCCCTCGTGGAG	0.582													T	28117503	C	T	28117503	3	4	191	1	0	0	0	0	1	0	0	0	17445	739	26	2	752	2	XPO6	16	28117503	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	332979	28117503	62237250	1542	104562											
XPO6	23214	broad.mit.edu	37	chr16	28145176	28145176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattaccagtgtggagaaggCgtgcgtgggcaggagctcca	16	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28145176C>T	uc002dpa.1	-	11	2023	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	XPO6_uc002dpb.1_Missense_Mutation_p.A494T|XPO6_uc010vcp.1_Missense_Mutation_p.A508T	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	508					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTGGAGAAGGCGTGCGTGGGC	0.582													T	28145176	C	T	28145176	3	4	191	1	0	0	0	0	1	0	0	0	17445	768	27	1	1911	1	XPO6	16	28145176	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	27673	28145176	62209577	1543	104563											
APOB48R	55911	broad.mit.edu	37	chr16	28509138	28509138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggtctcatggtgaccGggggccggagggcagaggcc	20	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28509138G>A	uc002dqb.1	+	3	2759	c.2749G>A	c.(2749-2751)GGG>AGG	p.G917R	uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.G455R	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	917	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						CATGGTGACCGGGGGCCGGAG	0.637													A	28509138	G	A	28509138	3	1	191	1	0	0	0	0	1	0	0	0	786	1116	39	1	2759	1	APOB48R	16	28509138	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	363962	28509138	61845615	1544	104564											
IL27	246778	broad.mit.edu	37	chr16	28511129	28511129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccaggacacctgggccGggccctgtaaggcgctgccc	17	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28511129G>A	uc002dqc.2	-	5	598	c.575C>T	c.(574-576)CCG>CTG	p.P192L	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	192					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0						CACCTGGGCCGGGCCCTGTAA	0.532													A	28511129	G	A	28511129	3	1	191	1	0	0	0	0	1	0	0	0	7680	1116	39	1	160	1	IL27	16	28511129	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1991	28511129	61843624	1545	104565											
SH2B1	25970	broad.mit.edu	37	chr16	28878124	28878124	+	Frame_Shift_Del	DEL	G	G	-													ggctgagactcagtcggggaGggggcgccttgaaggatgga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28878123_28878123AG>A	uc002dri.3	+	3	1147	c.708_708AG>A	c.(706-708)ggafs	p.G236fs	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Frame_Shift_Del_p.G236fs|SH2B1_uc002drk.3_Frame_Shift_Del_p.G236fs|SH2B1_uc002drl.3_Frame_Shift_Del_p.G236fs|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Frame_Shift_Del_p.G236fs|SH2B1_uc002drm.3_Frame_Shift_Del_p.G236fs	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	236	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			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						TCAGTCGGGGAGGGGGCGCCT	0.642													-	28878124	G	-	28878124	7	5	191	1	0	1	0	1	0	0	0	0	14227	1000	35	0	711	0	SH2B1	16	28878124	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	366995	28878124	61476629	1546	104566											
ATP2A1	487	broad.mit.edu	37	chr16	28906263	28906263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggtggagagagccaacGcctgcaactcggtgagcctg	15	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28906263G>A	uc002dro.1	+	12	1592	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.A470T|ATP2A1_uc002drp.1_Missense_Mutation_p.A345T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	470	Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAGAGCCAACGCCTGCAACTC	0.612													A	28906263	G	A	28906263	3	1	191	1	0	0	0	0	1	0	0	0	1136	1087	38	1	1454	1	ATP2A1	16	28906263	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	28139	28906263	61448490	1547	104567											
C16orf53	79447	broad.mit.edu	37	chr16	29828545	29828545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagaccacacatgcccaCggaatttgattttgatgatg	8	11	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:29828545C>T	uc002dug.3	+	2	816	c.497C>T	c.(496-498)ACG>ATG	p.T166M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein	166											0						CACATGCCCACGGAATTTGAT	0.572											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	29828545	C	T	29828545	3	4	191	1	0	0	0	0	1	0	0	0	1818	536	19	1	503	1	C16orf53	16	29828545	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	922282	29828545	60526208	1548	104568											
TAOK2	9344	broad.mit.edu	37	chr16	29999115	29999115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcatcccacttgcccccGtgggccatccacacactggc	8	18	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:29999115G>A	uc002dva.1	+	16	4305	c.3522G>A	c.(3520-3522)CCG>CCA	p.P1174P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Silent_p.P1181P|TAOK2_uc002dvd.1_Silent_p.P1001P	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1174	Helical; (Potential).				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			ovary(1)	1						ACTTGCCCCCGTGGGCCATCC	0.667													A	29999115	G	A	29999115	2	1	191	1	0	0	0	0	0	0	0	1	15545	1132	40	1		1	TAOK2	16	29999115	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	170570	29999115	60355638	1549	104569											
DOC2A	8448	broad.mit.edu	37	chr16	30018527	30018529	+	In_Frame_Del	DEL	CTT	CTT	-													tcgaggcagatgttaaaatgCttcttctgcgaaggcttgag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30018526_30018528GCTT>G	uc002dvn.3	-	5	811_813	c.620_622AAGC>C	c.(619-624)aagcat>aCat	p.207_208KH>T	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_In_Frame_Del_p.207_208KH>T|DOC2A_uc002dvp.3_In_Frame_Del_p.207_208KH>T|DOC2A_uc002dvq.3_In_Frame_Del_p.207_208KH>T	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	207					nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ATGTTAAAATGCTTCTTCTGCGA	0.631													-	30018529	CTT	-	30018527	7	5	191	1	0	1	0	1	0	0	0	0	4683	796	28	0	605	0	DOC2A	16	30018527	In_Frame_Del	DEL	CTT	TCGA-CG-5723-01A-11D-1600-08	19412	30018527	60336226	1550	104570											
YPEL3	83719	broad.mit.edu	37	chr16	30106447	30106447	+	Frame_Shift_Del	DEL	C	C	-													gagttgaagaggtaggcacgCccctgactgccctggaagga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30106446_30106446GC>G	uc002dwl.3	-	1	971	c.253_253GC>C	c.(253-255)cgtfs	p.R85fs	BOLA2_uc010bzb.1_Intron|YPEL3_uc002dwm.3_Frame_Shift_Del_p.R47fs|YPEL3_uc002dwn.1_Frame_Shift_Del_p.R85fs|AK097453_uc002dwo.2_5'Flank	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	47						nucleolus				endometrium(1)|lung(2)	3						AGGTAGGCACGCCCCTGACTG	0.612													-	30106447	C	-	30106447	7	5	191	1	0	1	0	1	0	0	0	0	17488	726	26	0	233	0	YPEL3	16	30106447	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	87920	30106447	60248306	1551	104571											
GDPD3	79153	broad.mit.edu	37	chr16	30124065	30124065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccaccactctgtcccGtgtcagctgacagtcgagct	8	17	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30124065G>A	uc002dwp.2	-	3	311	c.232C>T	c.(232-234)CGG>TGG	p.R78W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R16W|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	78	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						ACTCTGTCCCGTGTCAGCTGA	0.662											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30124065	G	A	30124065	3	1	191	1	0	0	0	0	1	0	0	0	6325	1144	40	1	756	1	GDPD3	16	30124065	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	17618	30124065	60230688	1552	104572											
ZNF785	146540	broad.mit.edu	37	chr16	30593992	30593992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacggcctgctgccacgcGcgcctctcgctgcaggagcg	13	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30593992G>A	uc002dyw.1	-	3	1185	c.1107C>T	c.(1105-1107)CGC>CGT	p.R369R	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.R354R|ZNF785_uc010vez.1_Silent_p.R334R	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTGCCACGCGCGCCTCTCGC	0.627													A	30593992	G	A	30593992	2	1	191	1	0	0	0	0	0	0	0	1	18154	1074	38	1		1	ZNF785	16	30593992	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	469927	30593992	59760761	1553	104573											
PRR14	78994	broad.mit.edu	37	chr16	30666220	30666220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccccggcccccaatccGccagtggcgaactcaggacc	10	20	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30666220G>A	uc002dyy.2	+	8	1187	c.929G>A	c.(928-930)CGC>CAC	p.R310H	PRR14_uc002dyz.2_Missense_Mutation_p.R155H|PRR14_uc002dza.2_Missense_Mutation_p.R310H|PRR14_uc002dzb.1_Missense_Mutation_p.R124H	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	310	Pro-rich.										0			Colorectal(24;0.103)			CCCCCAATCCGCCAGTGGCGA	0.647													A	30666220	G	A	30666220	3	1	191	1	0	0	0	0	1	0	0	0	12586	1087	38	1	955	1	PRR14	16	30666220	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	72228	30666220	59688533	1554	104574											
SRCAP	10847	broad.mit.edu	37	chr16	30723463	30723463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccaagggttacacGctggccacgacccaggtatc	10	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30723463G>A	uc002dze.1	+	12	2185	c.1800G>A	c.(1798-1800)ACG>ACA	p.T600T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T457T|SRCAP_uc010bzz.1_Silent_p.T170T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	600					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGGGTTACACGCTGGCCACGA	0.522													A	30723463	G	A	30723463	2	1	191	1	0	0	0	0	0	0	0	1	15134	1074	38	1		1	SRCAP	16	30723463	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	57243	30723463	59631290	1555	104575											
RNF40	9810	broad.mit.edu	37	chr16	30779279	30779279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccacaaccaccagctaaaAggggacgcccagcgatacaa	8	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30779279A>G	uc002dzq.2	+	12	1617	c.1494A>G	c.(1492-1494)AAA>AAG	p.K498K	RNF40_uc010caa.2_Silent_p.K498K|RNF40_uc010cab.2_Silent_p.K398K|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.K498K|RNF40_uc010vfb.1_Silent_p.K190K|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	498	Potential.				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(1)	1			Colorectal(24;0.198)			ACCAGCTAAAAGGGGACGCCC	0.532													G	30779279	A	G	30779279	2	3	191	1	0	0	0	0	0	0	0	1	13493	69	3	3		3	RNF40	16	30779279	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	55816	30779279	59575474	1556	104576											
SETD1A	9739	broad.mit.edu	37	chr16	30977317	30977318	+	Frame_Shift_Ins	INS	-	-	C													tgattgccgcctcagctggcINSccccccggtggggcctttgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30977316_30977317G>GC	uc002ead.1	+	7	2800_2801	c.2114_2115G>GC	c.(2113-2115)ggcfs	p.G705fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein 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						GCCTCAGCTGGCCCCCCCGGTG	0.644													C	30977318	-	C	30977317	7	5	191	1	0	1	1	0	0	0	0	0	14130	726	26	0	2141	0	SETD1A	16	30977317	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	198038	30977317	59377436	1557	104577											
ZNF646	9726	broad.mit.edu	37	chr16	31092480	31092480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatgcccggggccacaGccaggtgccagcccagatgg	15	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31092480G>A	uc002eap.2	+	2	5124	c.4835G>A	c.(4834-4836)AGC>AAC	p.S1612N		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CGGGGCCACAGCCAGGTGCCA	0.642													A	31092480	G	A	31092480	3	1	191	1	0	0	0	0	1	0	0	0	18059	971	34	2	4837	2	ZNF646	16	31092480	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	115163	31092480	59262273	1558	104578											
BCKDK	10295	broad.mit.edu	37	chr16	31123292	31123292	+	Frame_Shift_Del	DEL	C	C	-													acacaggacccccggatcagCcccctctttggccatctgga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31123291_31123291GC>G	uc002eaw.4	+	10	1353	c.1037_1037GC>G	c.(1036-1038)agcfs	p.S346fs	BCKDK_uc002eav.4_Frame_Shift_Del_p.S346fs|BCKDK_uc010cai.3_Frame_Shift_Del_p.S316fs	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	346	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCCCGGATCAGCCCCCTCTTT	0.622													-	31123292	C	-	31123292	7	5	191	1	0	1	0	1	0	0	0	0	1361	738	26	0	1076	0	BCKDK	16	31123292	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	30812	31123292	59231461	1559	104579											
MYST1	84148	broad.mit.edu	37	chr16	31138555	31138555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatccacatcgggaactacGaaattgatgcctggtatttc	9	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31138555G>A	uc002eay.2	+	5	580	c.562G>A	c.(562-564)GAA>AAA	p.E188K	MYST1_uc002eax.2_Missense_Mutation_p.E188K|MYST1_uc002eaz.2_Missense_Mutation_p.E30K|MYST1_uc002eba.2_5'UTR|MYST1_uc002ebb.2_5'Flank	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	188					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						CGGGAACTACGAAATTGATGC	0.532													A	31138555	G	A	31138555	3	1	191	1	0	0	0	0	1	0	0	0	10102	1059	37	1	580	1	MYST1	16	31138555	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	15263	31138555	59216198	1560	104580											
TRIM72	493829	broad.mit.edu	37	chr16	31232241	31232241	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcctggtgaccagcaggTgagagcaacctggccctgtc	13	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31232241T>C	uc002ebn.1	+	5	969	c.740_splice	c.e5+2	p.R247_splice		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72						exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						GACCAGCAGGTGAGAGCAACC	0.552													C	31232241	T	C	31232241	5	2	191	1	0	0	0	0	0	0	1	0	16542	1710	59	3	756	3	TRIM72	16	31232241	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	93686	31232241	59122512	1561	104581											
ITGAM	3684	broad.mit.edu	37	chr16	31283278	31283278	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaataacgcagctgcttggGcggacacacacggccacggg	13	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31283278G>T	uc002ebq.2	+	7	767	c.669G>T	c.(667-669)GGG>GGT	p.G223G	ITGAM_uc002ebr.2_Silent_p.G223G	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	223	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						AGCTGCTTGGGCGGACACACA	0.512													T	31283278	G	T	31283278	2	4	191	1	0	0	0	0	0	0	0	1	7887	1190	42	5		5	ITGAM	16	31283278	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	51037	31283278	59071475	1562	104582											
ITGAM	3684	broad.mit.edu	37	chr16	31284825	31284825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagacagagagggagtcattCgctacgtcattggggtaggg	16	7	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31284825C>T	uc002ebq.2	+	8	942	c.844C>T	c.(844-846)CGC>TGC	p.R282C	ITGAM_uc002ebr.2_Missense_Mutation_p.R282C|ITGAM_uc010cam.1_5'Flank	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	282	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GGGAGTCATTCGCTACGTCAT	0.463													T	31284825	C	T	31284825	3	4	191	1	0	0	0	0	1	0	0	0	7887	884	31	1	874	1	ITGAM	16	31284825	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1547	31284825	59069928	1563	104583											
ARMC5	79798	broad.mit.edu	37	chr16	31477235	31477235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggttggggccctgacGcacctgctgctctctgggag	16	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31477235G>A	uc002ecc.2	+	5	2458	c.1929G>A	c.(1927-1929)ACG>ACA	p.T643T	ARMC5_uc010vfn.1_Silent_p.T738T|ARMC5_uc010vfo.1_Silent_p.T675T|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Silent_p.T451T|ARMC5_uc002ecb.2_Silent_p.T643T	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	643							binding			pancreas(1)	1						GGGCCCTGACGCACCTGCTGC	0.652													A	31477235	G	A	31477235	2	1	191	1	0	0	0	0	0	0	0	1	954	1074	38	1		1	ARMC5	16	31477235	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	192410	31477235	58877518	1564	104584											
C16orf58	64755	broad.mit.edu	37	chr16	31510649	31510649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggttgctggtggagacggTcatggtgaaacagattgggt	17	4	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31510649T>C	uc002eci.1	-	5	586	c.574A>G	c.(574-576)ACC>GCC	p.T192A	C16orf58_uc010vfq.1_Missense_Mutation_p.T50A	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	192						integral to membrane				ovary(1)|breast(1)	2						GTGGAGACGGTCATGGTGAAA	0.527													C	31510649	T	C	31510649	3	2	191	1	0	0	0	0	1	0	0	0	1822	1667	58	3	868	3	C16orf58	16	31510649	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	33414	31510649	58844104	1565	104585											
ZNF267	10308	broad.mit.edu	37	chr16	31927586	31927586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaagccttcaactctagGtcatacctcactacacatcg	6	14	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31927586G>A	uc002ecs.3	+	4	2225	c.2016G>A	c.(2014-2016)AGG>AGA	p.R672R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	672	C2H2-type 13.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TCAACTCTAGGTCATACCTCA	0.438													A	31927586	G	A	31927586	2	1	191	1	0	0	0	0	0	0	0	1	17803	1252	44	4		4	ZNF267	16	31927586	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	416937	31927586	58427167	1566	104586											
VPS35	55737	broad.mit.edu	37	chr16	46714715	46714715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctttcaaaatatccttcctgGactgaggaaatgacttgaca	7	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:46714715G>T	uc002eef.3	-	5	473	c.374C>A	c.(373-375)TCC>TAC	p.S125Y	VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.S86Y	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	125					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		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)				ATCCTTCCTGGACTGAGGAAA	0.363													T	46714715	G	T	46714715	3	4	191	1	0	0	0	0	1	0	0	0	17200	1174	41	5	2068	5	VPS35	16	46714715	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	14787129	46714715	43640038	1567	104587											
N4BP1	9683	broad.mit.edu	37	chr16	48594921	48594921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaactacaacatcctaaacGtttttcacaggcagatttca	5	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:48594921G>A	uc002efp.2	-	2	1870	c.1633C>T	c.(1633-1635)CGT>TGT	p.R545C		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	545					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				CATCCTAAACGTTTTTCACAG	0.448													A	48594921	G	A	48594921	3	1	191	1	0	0	0	0	1	0	0	0	10109	1145	40	1	1081	1	N4BP1	16	48594921	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1880206	48594921	41759832	1568	104588											
ZNF423	23090	broad.mit.edu	37	chr16	49670430	49670430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccgacgcgtccacgTcatcctcgctggcctcatgg	12	16	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:49670430T>C	uc002efs.2	-	5	2931	c.2633A>G	c.(2632-2634)GAC>GGC	p.D878G	ZNF423_uc010vgn.1_Missense_Mutation_p.D761G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	878					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CGCGTCCACGTCATCCTCGCT	0.607													C	49670430	T	C	49670430	3	2	191	1	0	0	0	0	1	0	0	0	17895	1667	58	3	1241	3	ZNF423	16	49670430	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1075509	49670430	40684323	1569	104589											
IRX6	79190	broad.mit.edu	37	chr16	55358985	55358985	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacagggaagagagagaCgggccagggacagccaccat	15	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:55358985C>T	uc002ehy.2	+	1	515	c.-18C>T	c.(-20--16)GACGG>GATGG		IRX6_uc002ehx.2_Translation_Start_Site|IRX6_uc010ccb.1_5'Flank	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						AAGAGAGAGACGGGCCAGGGA	0.642													T	55358985	C	T	55358985	1	4	191	1	0	0	0	0	0	0	0	0	7848	551	19	1		1	IRX6	16	55358985	Translation_Start_Site	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5688555	55358985	34995768	1570	104590											
CES7	221223	broad.mit.edu	37	chr16	55903594	55903594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcataggcagccagggcGgacccatcaaagatggaggc	13	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:55903594G>A	uc002eip.2	-	4	629	c.480C>T	c.(478-480)TCC>TCT	p.S160S	CES7_uc002eio.2_Silent_p.S160S|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.S54S	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	160						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CAGCCAGGGCGGACCCATCAA	0.562													A	55903594	G	A	55903594	2	1	191	1	0	0	0	0	0	0	0	1	3272	1103	39	1		1	CES7	16	55903594	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	544609	55903594	34451159	1571	104591											
NLRC5	84166	broad.mit.edu	37	chr16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatcctgcacctgccGccccttccttagccacctgg	8	20	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57060576G>A	uc002ekk.1	+	6	1946	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R379H|NLRC5_uc002ekl.2_Missense_Mutation_p.R379H|NLRC5_uc002ekm.2_Missense_Mutation_p.R379H|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	574					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TGCACCTGCCGCCCCTTCCTT	0.632													A	57060576	G	A	57060576	3	1	191	1	0	0	0	0	1	0	0	0	10470	1087	38	1	1735	1	NLRC5	16	57060576	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1156982	57060576	33294177	1572	104592											
NLRC5	84166	broad.mit.edu	37	chr16	57060597	57060597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttccttagccacctggCgcagggcaatgaggactgtg	12	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57060597C>T	uc002ekk.1	+	6	1967	c.1742C>T	c.(1741-1743)GCG>GTG	p.A581V	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.A386V|NLRC5_uc002ekl.2_Missense_Mutation_p.A386V|NLRC5_uc002ekm.2_Missense_Mutation_p.A386V|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	581					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				AGCCACCTGGCGCAGGGCAAT	0.622													T	57060597	C	T	57060597	3	4	191	1	0	0	0	0	1	0	0	0	10470	768	27	1	1756	1	NLRC5	16	57060597	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	21	57060597	33294156	1573	104593											
POLR2C	5432	broad.mit.edu	37	chr16	57503122	57503122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtgctcggtggagttcAccctcgatgtgcggtgcaat	14	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57503122A>G	uc002elt.1	+	5	390	c.304A>G	c.(304-306)ACC>GCC	p.T102A	POLR2C_uc010vhq.1_Missense_Mutation_p.T102A	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	102					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				0						GGTGGAGTTCACCCTCGATGT	0.582													G	57503122	A	G	57503122	3	3	191	1	0	0	0	0	1	0	0	0	12216	159	6	3	322	3	POLR2C	16	57503122	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	442525	57503122	32851631	1574	104594											
GPR56	9289	broad.mit.edu	37	chr16	57695814	57695814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgatcttcttctccTttgcttctggcaccttccag	8	14	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57695814T>A	uc002emb.2	+	14	2180	c.1888T>A	c.(1888-1890)TTT>ATT	p.F630I	GPR56_uc002ema.1_Missense_Mutation_p.F455I|GPR56_uc002emc.2_Missense_Mutation_p.F624I|GPR56_uc002emf.2_Missense_Mutation_p.F624I|GPR56_uc010vhs.1_Missense_Mutation_p.F630I|GPR56_uc002emd.2_Missense_Mutation_p.F624I|GPR56_uc002eme.2_Missense_Mutation_p.F624I|GPR56_uc010vht.1_Missense_Mutation_p.F629I|GPR56_uc002emg.3_Missense_Mutation_p.F624I|GPR56_uc010vhu.1_Missense_Mutation_p.F449I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	630	Helical; Name=6; (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CTTCTTCTCCTTTGCTTCTGG	0.597													A	57695814	T	A	57695814	3	1	191	1	0	0	0	0	1	0	0	0	6700	1609	56	5	1949	5	GPR56	16	57695814	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	192692	57695814	32658939	1575	104595											
CNGB1	1258	broad.mit.edu	37	chr16	57918222	57918222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccaagggaggcaggcGgtggagagctcggtggagac	19	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57918222G>A	uc002emt.2	-	33	3667	c.3602C>T	c.(3601-3603)CCG>CTG	p.P1201L	CNGB1_uc010cdh.2_Missense_Mutation_p.P1195L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1201	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GGAGGCAGGCGGTGGAGAGCT	0.761													A	57918222	G	A	57918222	3	1	191	1	0	0	0	0	1	0	0	0	3600	1116	39	1	157	1	CNGB1	16	57918222	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	222408	57918222	32436531	1576	104596											
C16orf80	29105	broad.mit.edu	37	chr16	58149340	58149340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcccgaaagcgacgacGcacattcttgtcatctagta	8	12	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:58149340G>A	uc002enb.1	-	4	575	c.298C>T	c.(298-300)CGT>TGT	p.R100C		NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN	transcription factor IIB	100					multicellular organismal development						0						AAGCGACGACGCACATTCTTG	0.512													A	58149340	G	A	58149340	3	1	191	1	0	0	0	0	1	0	0	0	1837	1087	38	1	295	1	C16orf80	16	58149340	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	231118	58149340	32205413	1577	104597											
PRSS54	221191	broad.mit.edu	37	chr16	58314269	58314269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtataagggttgtacagaCgcctcaggagacctgcctga	12	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:58314269C>T	uc002enf.2	-	7	1442	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A	PRSS54_uc002eng.2_Silent_p.A349A|PRSS54_uc010vie.1_Silent_p.A250A|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	349					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GTTGTACAGACGCCTCAGGAG	0.468													T	58314269	C	T	58314269	2	4	191	1	0	0	0	0	0	0	0	1	12633	523	19	1		1	PRSS54	16	58314269	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	164929	58314269	32040484	1578	104598											
CA7	766	broad.mit.edu	37	chr16	66881124	66881124	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaatgacagcgatgacCgaaccggtaagtggcccctg	11	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:66881124C>T	uc002eqi.2	+	2	341	c.232C>T	c.(232-234)CGA>TGA	p.R78*	uc002eqh.2_Intron|CA7_uc002eqj.2_Nonsense_Mutation_p.R22*	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	78					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAGCGATGACCGAACCGGTAA	0.582													T	66881124	C	T	66881124	4	4	191	1	0	0	0	0	0	1	0	0	2522	644	23	1	238	1	CA7	16	66881124	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8566855	66881124	23473629	1579	104599											
CBFB	865	broad.mit.edu	37	chr16	67070569	67070570	+	Frame_Shift_Del	DEL	TC	TC	-													tggccacaggaaccaatctgTctctccagttttttccggcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:67070568_67070569GTC>G	uc002era.3	+	2	453_454	c.192_193GTC>G	c.(190-195)ctgtctfs	p.L64fs	CBFB_uc002erb.3_Frame_Shift_Del_p.L64fs|CBFB_uc010vja.2_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA.	64					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GAACCAATCTGTCTCTCCAGTT	0.431			T	MYH11	AML								-	67070570	TC	-	67070569	7	5	191	1	0	1	0	1	0	0	0	0	2699	1667	58	0	203	0	CBFB	16	67070569	Frame_Shift_Del	DEL	TC	TCGA-CG-5723-01A-11D-1600-08	189445	67070569	23284184	1580	104600											
CTCF	10664	broad.mit.edu	37	chr16	67662409	67662409	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacgaccccaacttcgtccCtgcggcttttgtctgttcta	7	15	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:67662409C>A	uc002etl.2	+	9	1945	c.1655C>A	c.(1654-1656)CCT>CAT	p.P552H	CTCF_uc010cek.2_Missense_Mutation_p.P224H|CTCF_uc002etm.1_Missense_Mutation_p.P41H	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	552					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			ovary(1)	1		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)		AACTTCGTCCCTGCGGCTTTT	0.498													A	67662409	C	A	67662409	3	1	191	1	0	0	0	0	1	0	0	0	4000	681	24	5	1681	5	CTCF	16	67662409	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	591840	67662409	22692344	1581	104601											
EDC4	23644	broad.mit.edu	37	chr16	67914081	67914081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcctggcctgctcccaGccccagctgacaaactgact	8	18	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:67914081G>A	uc002eur.2	+	17	2225	c.2059G>A	c.(2059-2061)GCC>ACC	p.A687T	EDC4_uc010cer.2_Missense_Mutation_p.A306T|EDC4_uc010vkg.1_Missense_Mutation_p.A619T|EDC4_uc002eus.2_Missense_Mutation_p.A417T|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	687					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCTGCTCCCAGCCCCAGCTGA	0.657													A	67914081	G	A	67914081	3	1	191	1	0	0	0	0	1	0	0	0	4908	971	34	2	2125	2	EDC4	16	67914081	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	251672	67914081	22440672	1582	104602											
WWP2	11060	broad.mit.edu	37	chr16	69942692	69942692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagagctgcccaacggaCgtgtctattatgttgaccac	11	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:69942692C>T	uc002exu.1	+	10	1032	c.943C>T	c.(943-945)CGT>TGT	p.R315C	WWP2_uc002ext.2_Missense_Mutation_p.R315C|WWP2_uc002exv.1_Missense_Mutation_p.R315C|WWP2_uc010vlm.1_Missense_Mutation_p.R199C	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	315	WW 1.				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			lung(3)|ovary(1)|breast(1)|skin(1)	6						GCCCAACGGACGTGTCTATTA	0.517													T	69942692	C	T	69942692	3	4	191	1	0	0	0	0	1	0	0	0	17413	536	19	1	973	1	WWP2	16	69942692	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2028611	69942692	20412061	1583	104603											
WWP2	11060	broad.mit.edu	37	chr16	69963368	69963368	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagagacaggacaatGgacgggtgtattacgtgaac	14	6	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:69963368G>T	uc002exu.1	+	13	1341	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	WWP2_uc002exv.1_Nonsense_Mutation_p.G418*|WWP2_uc010vlm.1_Nonsense_Mutation_p.G302*|WWP2_uc010vln.1_Nonsense_Mutation_p.G36*|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	418	WW 3.				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			lung(3)|ovary(1)|breast(1)|skin(1)	6						ACAGGACAATGGACGGGTGTA	0.577											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	69963368	G	T	69963368	4	4	191	1	0	0	0	0	0	1	0	0	17413	1349	47	5	1298	5	WWP2	16	69963368	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	20676	69963368	20391385	1584	104604											
FUK	197258	broad.mit.edu	37	chr16	70501297	70501297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcagctgggacagcttcCggggagccagagtgatcgcc	15	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:70501297C>T	uc002eyy.2	+	7	563	c.505C>T	c.(505-507)CGG>TGG	p.R169W	FUK_uc010vmb.1_3'UTR|FUK_uc010cft.2_Missense_Mutation_p.R201W|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	169						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				GGACAGCTTCCGGGGAGCCAG	0.652													T	70501297	C	T	70501297	3	4	191	1	0	0	0	0	1	0	0	0	6096	643	23	1	527	1	FUK	16	70501297	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	537929	70501297	19853456	1585	104605											
PHLPP2	23035	broad.mit.edu	37	chr16	71690580	71690580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaattttcagggttgtgaTatggctgtgggaggtgaagg	16	3	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:71690580T>C	uc002fax.2	-	15	2290	c.2284A>G	c.(2284-2286)ATC>GTC	p.I762V	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.I695V	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	762						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						AGGGTTGTGATATGGCTGTGG	0.368													C	71690580	T	C	71690580	3	2	191	1	0	0	0	0	1	0	0	0	11855	1406	49	3	1703	3	PHLPP2	16	71690580	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1189283	71690580	18664173	1586	104606											
PHLPP2	23035	broad.mit.edu	37	chr16	71748707	71748708	+	Splice_Site	INS	-	-	A													ttgcgtttcatatttctctaINSaaaaatatcaagagaaagaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:71748706_71748707T>TA	uc002fax.3	-	1	1	c.-5_splice	c.e1-1		PHLPP2_uc010cgf.3_5'UTR|PHLPP2_uc002fay.1_Splice_Site	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							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						CATATTTCTCTAAAAAATATCA	0.386													A	71748708	-	A	71748707	8	5	191	1	0	1	1	0	0	0	1	0	11855	377	13	0		0	PHLPP2	16	71748707	Splice_Site	INS	-	TCGA-CG-5723-01A-11D-1600-08	58127	71748707	18606046	1587	104607											
ZFHX3	463	broad.mit.edu	37	chr16	72992888	72992888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggggctgctcggggCcagcggcggagcccgctggg	20	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:72992888C>T	uc002fck.2	-	2	1830	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	386					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTGCTCGGGGCCAGCGGCGGA	0.602													T	72992888	C	T	72992888	3	4	191	1	0	0	0	0	1	0	0	0	17631	739	26	2	9990	2	ZFHX3	16	72992888	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1244181	72992888	17361865	1588	104608											
BCAR1	9564	broad.mit.edu	37	chr16	75263765	75263765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagtgtggtcaggttggCctcacactgctccaggtaga	14	10	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:75263765C>T	uc002fdv.2	-	7	2380	c.2257G>A	c.(2257-2259)GCC>ACC	p.A753T	BCAR1_uc002fdt.2_Missense_Mutation_p.A206T|BCAR1_uc002fdu.2_Missense_Mutation_p.A543T|BCAR1_uc010cgu.2_Missense_Mutation_p.A742T|BCAR1_uc010vna.1_Missense_Mutation_p.A751T|BCAR1_uc010vnb.1_Missense_Mutation_p.A799T|BCAR1_uc002fdw.2_Missense_Mutation_p.A753T|BCAR1_uc010vnc.1_Missense_Mutation_p.A605T|BCAR1_uc010vnd.1_Missense_Mutation_p.A771T|BCAR1_uc002fdx.2_Missense_Mutation_p.A771T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	753	Divergent helix-loop-helix motif.				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			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCAGGTTGGCCTCACACTGC	0.662													T	75263765	C	T	75263765	3	4	191	1	0	0	0	0	1	0	0	0	1348	739	26	2	359	2	BCAR1	16	75263765	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2270877	75263765	15090988	1589	104609											
CNTNAP4	85445	broad.mit.edu	37	chr16	76555939	76555939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtaatatttccagctcCgacagtagtgactttttcat	7	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:76555939C>T	uc002feu.1	+	19	2925	c.2540C>T	c.(2539-2541)CCG>CTG	p.P847L	CNTNAP4_uc002fev.1_Missense_Mutation_p.P711L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P774L|CNTNAP4_uc002fex.1_Missense_Mutation_p.P850L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	847	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TTTCCAGCTCCGACAGTAGTG	0.458													T	76555939	C	T	76555939	3	4	191	1	0	0	0	0	1	0	0	0	3649	652	23	1	2619	1	CNTNAP4	16	76555939	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1292174	76555939	13798814	1590	104610											
VAT1L	57687	broad.mit.edu	37	chr16	77859262	77859263	+	Frame_Shift_Ins	INS	-	-	C													tctccgaggctgctgcattcINScccatgaacttcgtcacagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:77859261_77859262T>TC	uc002ffg.1	+	2	579_580	c.482_483T>TC	c.(481-483)ttcfs	p.F161fs		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	161							oxidoreductase activity|zinc ion binding	p.F161F(4)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCTGCTGCATTCCCCATGAACT	0.54													C	77859263	-	C	77859262	7	5	191	1	0	1	1	0	0	0	0	0	17127	854	30	0	493	0	VAT1L	16	77859262	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	1303323	77859262	12495491	1591	104611											
PKD1L2	114780	broad.mit.edu	37	chr16	81249919	81249919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaggaagggcctctccCgatgtggccgcaggtgtcag	15	12	3	1	rs117142104	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81249919C>T	uc002fgh.1	-	2	394	c.394G>A	c.(394-396)GGG>AGG	p.G132R	PKD1L2_uc002fgj.2_Missense_Mutation_p.G132R	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	132	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGGCCTCTCCCGATGTGGCCG	0.652													T	81249919	C	T	81249919	3	4	191	1	0	0	0	0	1	0	0	0	11965	652	23	1	7222	1	PKD1L2	16	81249919	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3390657	81249919	9104834	1592	104612											
PKD1L2	114780	broad.mit.edu	37	chr16	81253808	81253808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggcctccttgcccctcGcaccagctctgggcatcacg	9	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81253808G>A	uc002fgh.1	-	1	168	c.168C>T	c.(166-168)TGC>TGT	p.C56C	PKD1L2_uc002fgj.2_Silent_p.C56C	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	56	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTTGCCCCTCGCACCAGCTCT	0.552													A	81253808	G	A	81253808	2	1	191	1	0	0	0	0	0	0	0	1	11965	1079	38	1		1	PKD1L2	16	81253808	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3889	81253808	9100945	1593	104613											
PLCG2	5336	broad.mit.edu	37	chr16	81934352	81934352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgaccagctgccctcGcccagccagctgcgggagaa	13	15	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81934352G>A	uc002fgt.2	+	14	1481	c.1329G>A	c.(1327-1329)TCG>TCA	p.S443S	PLCG2_uc010chg.1_Silent_p.S443S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	443	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AGCTGCCCTCGCCCAGCCAGC	0.637													A	81934352	G	A	81934352	2	1	191	1	0	0	0	0	0	0	0	1	12036	1074	38	1		1	PLCG2	16	81934352	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	680544	81934352	8420401	1594	104614											
PLCG2	5336	broad.mit.edu	37	chr16	81944173	81944173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgctccaccatggagggCgggaccctgaaatactactt	10	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81944173C>T	uc002fgt.2	+	18	1934	c.1782C>T	c.(1780-1782)GGC>GGT	p.G594G	PLCG2_uc010chg.1_Silent_p.G594G	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	594	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CCATGGAGGGCGGGACCCTGA	0.642													T	81944173	C	T	81944173	2	4	191	1	0	0	0	0	0	0	0	1	12036	755	27	1		1	PLCG2	16	81944173	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	9821	81944173	8410580	1595	104615											
PLCG2	5336	broad.mit.edu	37	chr16	81965249	81965249	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgagagatcacctggaagaTtgacaccaaggtaggcacct	11	11	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81965249T>A	uc002fgt.2	+	25	2881	c.2729T>A	c.(2728-2730)ATT>AAT	p.I910N		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	910					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						ACCTGGAAGATTGACACCAAG	0.607													A	81965249	T	A	81965249	3	1	191	1	0	0	0	0	1	0	0	0	12036	1493	52	5	2823	5	PLCG2	16	81965249	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	21076	81965249	8389504	1596	104616											
MLYCD	23417	broad.mit.edu	37	chr16	83948976	83948976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgatggccaactaccGctacttcctggaggagacgg	13	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:83948976G>A	uc002fgz.2	+	5	1384	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	455					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						GCCAACTACCGCTACTTCCTG	0.612													A	83948976	G	A	83948976	3	1	191	1	0	0	0	0	1	0	0	0	9638	1087	38	1	1382	1	MLYCD	16	83948976	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1983727	83948976	6405777	1597	104617											
TAF1C	9013	broad.mit.edu	37	chr16	84218535	84218535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaggtcagggacgtcGctcagaccaagggggccggt	17	9	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:84218535G>A	uc002fhn.2	-	2	288	c.60C>T	c.(58-60)AGC>AGT	p.S20S	TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Silent_p.S20S|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.S20S	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	20					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			ovary(1)	1						CAGGGACGTCGCTCAGACCAA	0.627													A	84218535	G	A	84218535	2	1	191	1	0	0	0	0	0	0	0	1	15518	1078	38	1		1	TAF1C	16	84218535	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	269559	84218535	6136218	1598	104618											
ATP2C2	9914	broad.mit.edu	37	chr16	84492752	84492752	+	Frame_Shift_Del	DEL	T	T	-													agtggaggaaggcaagggtaTtttttacaacatcaaaaact							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:84492751_84492751AT>A	uc010chj.3	+	21	2262	c.2173_2173AT>A	c.(2173-2175)attfs	p.I725fs	ATP2C2_uc002fhx.3_Frame_Shift_Del_p.I725fs|ATP2C2_uc002fhy.3_Frame_Shift_Del_p.I742fs|ATP2C2_uc002fhz.3_Frame_Shift_Del_p.I574fs|ATP2C2_uc002fia.3_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	725					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						AGGCAAGGGTATTTTTTACAA	0.552													-	84492752	T	-	84492752	7	5	191	1	0	1	0	1	0	0	0	0	1144	1493	52	0	2260	0	ATP2C2	16	84492752	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	274217	84492752	5862001	1599	104619											
USP10	9100	broad.mit.edu	37	chr16	84806195	84806195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaactccctcctgtcctcGtgctgcacctgaaacgattc	6	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:84806195G>A	uc002fii.2	+	12	2189	c.2047G>A	c.(2047-2049)GTG>ATG	p.V683M	USP10_uc010voe.1_Missense_Mutation_p.V687M|USP10_uc010vof.1_Missense_Mutation_p.V245M|USP10_uc002fij.2_Missense_Mutation_p.V209M	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 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				0						TCCTGTCCTCGTGCTGCACCT	0.448													A	84806195	G	A	84806195	3	1	191	1	0	0	0	0	1	0	0	0	17038	1145	40	1	2093	1	USP10	16	84806195	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	313443	84806195	5548558	1600	104620											
IRF8	3394	broad.mit.edu	37	chr16	85948086	85948086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctcctgcaggcgtgccGctggtgacggggtacaccac	14	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:85948086G>A	uc002fjh.2	+	6	618	c.561G>A	c.(559-561)CCG>CCA	p.P187P	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	187					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)|ovary(1)	3		Prostate(104;0.0771)				CAGGCGTGCCGCTGGTGACGG	0.572													A	85948086	G	A	85948086	2	1	191	1	0	0	0	0	0	0	0	1	7836	1074	38	1		1	IRF8	16	85948086	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1141891	85948086	4406667	1601	104621											
SLC7A5	8140	broad.mit.edu	37	chr16	87872417	87872417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcccaggtgatagttccCgaagtcctaggcaggcacaa	12	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:87872417C>T	uc002fkm.2	-	6	1018	c.946G>A	c.(946-948)GGG>AGG	p.G316R		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	316					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		TGATAGTTCCCGAAGTCCTAG	0.667													T	87872417	C	T	87872417	3	4	191	1	0	0	0	0	1	0	0	0	14700	652	23	1	597	1	SLC7A5	16	87872417	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1924331	87872417	2482336	1602	104622											
GALNS	2588	broad.mit.edu	37	chr16	88901652	88901652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaatgagggcagcgccGttgtccgacgtgaagaagac	16	9	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:88901652G>A	uc002fly.3	-	8	956	c.867C>T	c.(865-867)AAC>AAT	p.N289N	GALNS_uc010cid.2_Silent_p.N295N|GALNS_uc002flz.3_Translation_Start_Site	NM_000512	NP_000503	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	289		Calcium (By similarity).				lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGGCAGCGCCGTTGTCCGACG	0.602													A	88901652	G	A	88901652	2	1	191	1	0	0	0	0	0	0	0	1	6206	1136	40	1		1	GALNS	16	88901652	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1029235	88901652	1453101	1603	104623											
TUBB3	10381	broad.mit.edu	37	chr16	90001817	90001817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaccgtgttccggggcCgcatgtccatgaaggaggtg	16	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:90001817C>T	uc002fph.1	+	4	1023	c.958C>T	c.(958-960)CGC>TGC	p.R320C	TUBB3_uc002fpf.2_Missense_Mutation_p.R667C|TUBB3_uc010ciz.1_Missense_Mutation_p.R248C|TUBB3_uc002fpg.1_Missense_Mutation_p.R174C|TUBB3_uc002fpi.1_Missense_Mutation_p.R248C|TUBB3_uc002fpj.1_Missense_Mutation_p.R248C|TUBB3_uc010cjb.1_Missense_Mutation_p.R174C|TUBB3_uc002fpk.1_Missense_Mutation_p.R174C	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	320					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		GTTCCGGGGCCGCATGTCCAT	0.632													T	90001817	C	T	90001817	3	4	191	1	0	0	0	0	1	0	0	0	16754	652	23	1	972	1	TUBB3	16	90001817	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1100165	90001817	352936	1604	104624											
NXN	64359	broad.mit.edu	37	chr17	708453	708453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccgcgtgatcacctcGccctgcgggtccagcatgat	11	17	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:708453G>A	uc002fsa.2	-	6	947	c.855C>T	c.(853-855)GGC>GGT	p.G285G	NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Silent_p.G36G|NXN_uc010vqe.1_Silent_p.G177G	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	285	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TGATCACCTCGCCCTGCGGGT	0.701													A	708453	G	A	708453	2	1	191	1	0	0	0	0	0	0	0	1	10787	1074	38	1		1	NXN	17	708453	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08		708453	80486757	1605	104625											
TUSC5	286753	broad.mit.edu	37	chr17	1183640	1183640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtcgcctgcttctgcccCgtctggcccctcaacctcat	8	19	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:1183640C>T	uc002fsi.1	+	1	684	c.345C>T	c.(343-345)CCC>CCT	p.P115P		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	115	Helical; (Potential).				response to biotic stimulus	integral to membrane		p.P115S(1)		skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTTCTGCCCCGTCTGGCCCC	0.617													T	1183640	C	T	1183640	2	4	191	1	0	0	0	0	0	0	0	1	16776	639	23	1		1	TUSC5	17	1183640	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	475187	1183640	80011570	1606	104626											
SMG6	23293	broad.mit.edu	37	chr17	2200581	2200581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggcaagaccatccatgtAgtcttccagtttgaacttgt	8	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:2200581A>G	uc002fub.1	-	4	2162	c.2107T>C	c.(2107-2109)TAC>CAC	p.Y703H		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	703					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			central_nervous_system(2)|lung(1)|kidney(1)	4						CCATCCATGTAGTCTTCCAGT	0.318													G	2200581	A	G	2200581	3	3	191	1	0	0	0	0	1	0	0	0	14797	420	15	3	2216	3	SMG6	17	2200581	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1016941	2200581	78994629	1607	104627											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2894595	2894595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttctctttcagacccTggaggaggagctatttggga	12	9	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:2894595T>C	uc010ckd.2	+	12	908	c.818T>C	c.(817-819)CTG>CCG	p.L273P	RAP1GAP2_uc010cke.2_Missense_Mutation_p.L258P	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	273	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						TTTCAGACCCTGGAGGAGGAG	0.478													C	2894595	T	C	2894595	3	2	191	1	0	0	0	0	1	0	0	0	13038	1580	55	3	864	3	RAP1GAP2	17	2894595	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	694014	2894595	78300615	1608	104628											
OR1D2	4991	broad.mit.edu	37	chr17	2996177	2996177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcacatttcccaccacCgtgaccaggtacatggacag	9	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:2996177C>T	uc010vrb.1	-	1	114	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	38	Helical; Name=1; (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TTCCCACCACCGTGACCAGGT	0.552													T	2996177	C	T	2996177	2	4	191	1	0	0	0	0	0	0	0	1	10953	639	23	1		1	OR1D2	17	2996177	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	101582	2996177	78199033	1609	104629											
ASPA	443	broad.mit.edu	37	chr17	3402247	3402247	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaactcttgatgggaagacGatcccactgggcggagactg	13	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:3402247G>A	uc010ckg.2	+	7	898	c.807G>A	c.(805-807)ACG>ACA	p.T269T	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Silent_p.T269T	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	269					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	ATGGGAAGACGATCCCACTGG	0.428													A	3402247	G	A	3402247	2	1	191	1	0	0	0	0	0	0	0	1	1050	1045	37	1		1	ASPA	17	3402247	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	406070	3402247	77792963	1610	104630											
ATP2A3	489	broad.mit.edu	37	chr17	3851105	3851105	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctccgtgtgcaggccggtGgccacggccacacccaccgc	13	18	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:3851105G>T	uc002fxb.1	-	8	826	c.675C>A	c.(673-675)GCC>GCA	p.A225A	ATP2A3_uc002fwx.1_Silent_p.A225A|ATP2A3_uc002fwy.1_Silent_p.A225A|ATP2A3_uc002fwz.1_Silent_p.A225A|ATP2A3_uc002fxa.1_Silent_p.A225A|ATP2A3_uc002fxc.1_Silent_p.A225A|ATP2A3_uc002fxd.1_Silent_p.A225A	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	225	Cytoplasmic (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCAGGCCGGTGGCCACGGCCA	0.672													T	3851105	G	T	3851105	2	4	191	1	0	0	0	0	0	0	0	1	1138	1335	47	5		5	ATP2A3	17	3851105	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	448858	3851105	77344105	1611	104631											
ZZEF1	23140	broad.mit.edu	37	chr17	3926055	3926055	+	Frame_Shift_Del	DEL	T	T	-													agccagtccctttgctgcacTttttcaccagcaacttcagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:3926054_3926054CT>C	uc002fxe.3	-	43	7225	c.7161_7161AG>G	c.(7159-7161)aagfs	p.K2387fs	ZZEF1_uc002fxh.3_Frame_Shift_Del_p.K701fs|ZZEF1_uc002fxi.3_Frame_Shift_Del_p.K622fs	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2387							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						CTTTGCTGCACTTTTTCACCA	0.512													-	3926055	T	-	3926055	7	5	191	1	0	1	0	1	0	0	0	0	18252	1609	56	0	1773	0	ZZEF1	17	3926055	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	74950	3926055	77269155	1612	104632											
SMTNL2	342527	broad.mit.edu	37	chr17	4497136	4497136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagaattcctctttcacGtggtctgtgccaagctctgg	11	10	4	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:4497136G>A	uc002fyf.1	+	4	817	c.750G>A	c.(748-750)ACG>ACA	p.T250T	SMTNL2_uc002fye.2_Silent_p.T106T	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	250											0				READ - Rectum adenocarcinoma(115;0.0325)		CCTCTTTCACGTGGTCTGTGC	0.592													A	4497136	G	A	4497136	2	1	191	1	0	0	0	0	0	0	0	1	14816	1132	40	1		1	SMTNL2	17	4497136	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	571081	4497136	76698074	1613	104633											
ZMYND15	84225	broad.mit.edu	37	chr17	4646665	4646665	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctcactcgtggctattgGacccagctcagcatgctgat	11	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:4646665G>A	uc002fyt.2	+	6	1251	c.1212G>A	c.(1210-1212)TGG>TGA	p.W404*	ZMYND15_uc002fyv.2_Nonsense_Mutation_p.W404*|ZMYND15_uc002fyu.2_Nonsense_Mutation_p.W404*	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	404							zinc ion binding				0						GTGGCTATTGGACCCAGCTCA	0.612													A	4646665	G	A	4646665	4	1	191	1	0	0	0	0	0	1	0	0	17705	1183	41	4	1230	4	ZMYND15	17	4646665	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	149529	4646665	76548545	1614	104634											
RPAIN	84268	broad.mit.edu	37	chr17	5329385	5329385	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggaggcaaacccactcatCtgtcctgtatgtacaaagta	9	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:5329385C>T	uc002gbq.2	+	4	978	c.408C>T	c.(406-408)ATC>ATT	p.I136I	RPAIN_uc010vsz.1_Silent_p.I136I|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Silent_p.I136I|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Silent_p.I136I|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	136					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0						ACCCACTCATCTGTCCTGTAT	0.458													T	5329385	C	T	5329385	2	4	191	1	0	0	0	0	0	0	0	1	13540	903	32	4		4	RPAIN	17	5329385	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	682720	5329385	75865825	1615	104635											
AIPL1	23746	broad.mit.edu	37	chr17	6328845	6328845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctctgcagggggccctgCggacagctctgcagatggtg	17	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:6328845C>T	uc002gcp.2	-	6	1185	c.1090G>A	c.(1090-1092)GCA>ACA	p.A364T	AIPL1_uc002gcq.2_Missense_Mutation_p.A304T|AIPL1_uc002gcr.2_Missense_Mutation_p.A301T|AIPL1_uc010clk.2_Missense_Mutation_p.A342T|AIPL1_uc010cll.2_Missense_Mutation_p.A340T|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	364					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		gggggccctgcggacagctct	0.269													T	6328845	C	T	6328845	3	4	191	1	0	0	0	0	1	0	0	0	436	768	27	1	68	1	AIPL1	17	6328845	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	999460	6328845	74866365	1616	104636											
FBXO39	162517	broad.mit.edu	37	chr17	6690183	6690183	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgcaggaagttgtttTacttcaaaatctgggctttc	8	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:6690183T>A	uc010vtg.1	+	3	1228	c.1108T>A	c.(1108-1110)TAC>AAC	p.Y370N	FBXO39_uc010cls.1_RNA	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	370										ovary(1)|skin(1)	2						GAAGTTGTTTTACTTCAAAAT	0.453													A	6690183	T	A	6690183	3	1	191	1	0	0	0	0	1	0	0	0	5747	1754	61	5	1114	5	FBXO39	17	6690183	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	361338	6690183	74505027	1617	104637											
NLGN2	57555	broad.mit.edu	37	chr17	7320376	7320376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataggcctgaagccacgcgTgcgtgacaactaccgcgcca	11	15	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7320376T>C	uc002ggt.1	+	7	1839	c.1766T>C	c.(1765-1767)GTG>GCG	p.V589A		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	589	Extracellular (Potential).				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)	1		Prostate(122;0.157)				AAGCCACGCGTGCGTGACAAC	0.587													C	7320376	T	C	7320376	3	2	191	1	0	0	0	0	1	0	0	0	10462	1696	59	3	1792	3	NLGN2	17	7320376	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	630193	7320376	73874834	1618	104638											
TMEM102	284114	broad.mit.edu	37	chr17	7339229	7339229	+	Frame_Shift_Del	DEL	C	C	-													gggagtgccccctggtggggCccgccgcccccggccccagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7339228_7339228GC>G	uc002ggx.1	+	1	311	c.38_38GC>G	c.(37-39)ggcfs	p.G13fs	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Frame_Shift_Del_p.G13fs	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	13					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CCCTGGTggggcccgccgccc	0.667													-	7339229	C	-	7339229	7	5	191	1	0	1	0	1	0	0	0	0	16014	726	26	0	41	0	TMEM102	17	7339229	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	18853	7339229	73855981	1619	104639											
POLR2A	5430	broad.mit.edu	37	chr17	7415852	7415852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggaatctctcctgccAtgacaccttggaaccagggt	12	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7415852A>G	uc002ghf.3	+	27	4783	c.4549A>G	c.(4549-4551)ATG>GTG	p.M1517V		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1517					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			pancreas(1)	1		Prostate(122;0.173)				CTCTCCTGCCATGACACCTTG	0.572													G	7415852	A	G	7415852	3	3	191	1	0	0	0	0	1	0	0	0	12214	217	8	3	4655	3	POLR2A	17	7415852	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	76623	7415852	73779358	1620	104640											
POLR2A	5430	broad.mit.edu	37	chr17	7417070	7417070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctacagccccagctcGcccagctacagcccagcctc	7	22	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7417070G>A	uc002ghf.3	+	29	5721	c.5487G>A	c.(5485-5487)TCG>TCA	p.S1829S		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1829	34.|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			pancreas(1)	1		Prostate(122;0.173)				gccccagctcgcccagctaca	0.443													A	7417070	G	A	7417070	2	1	191	1	0	0	0	0	0	0	0	1	12214	1074	38	1		1	POLR2A	17	7417070	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1218	7417070	73778140	1621	104641											
TP53	7157	broad.mit.edu	37	chr17	7578424	7578424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctcacaacctccgtcAtgtgctgtgactgcttgtag	10	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7578424A>G	uc002gim.2	-	5	700	c.506T>C	c.(505-507)ATG>ACG	p.M169T	TP53_uc002gig.1_Missense_Mutation_p.M169T|TP53_uc002gih.2_Missense_Mutation_p.M169T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M37T|TP53_uc010cng.1_Missense_Mutation_p.M37T|TP53_uc002gii.1_Missense_Mutation_p.M37T|TP53_uc010cnh.1_Missense_Mutation_p.M169T|TP53_uc010cni.1_Missense_Mutation_p.M169T|TP53_uc002gij.2_Missense_Mutation_p.M169T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M76T|TP53_uc002gio.2_Missense_Mutation_p.M37T|TP53_uc010vug.1_Missense_Mutation_p.M130T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	169	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|MT -> IS (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M169I(8)|p.0?(7)|p.M169V(3)|p.M169T(3)|p.V157_C176del20(1)|p.K164_P219del(1)|p.H168fs*69(1)|p.P151_V173del23(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.S149fs*72(1)|p.M169fs*2(1)|p.M169fs*12(1)|p.M169_T170insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		AACCTCCGTCATGTGCTGTGA	0.652		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			G	7578424	A	G	7578424	3	3	191	1	0	0	0	0	1	0	0	0	16378	217	8	3	792	3	TP53	17	7578424	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	161354	7578424	73616786	1622	104642											
DNAH2	146754	broad.mit.edu	37	chr17	7710586	7710586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcctgatatcatcggCcgcgtctccctggctgccaa	9	16	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7710586C>T	uc002giu.1	+	61	9575	c.9561C>T	c.(9559-9561)GGC>GGT	p.G3187G	DNAH2_uc010cnm.1_Silent_p.G125G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3187	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATATCATCGGCCGCGTCTCCC	0.592													T	7710586	C	T	7710586	2	4	191	1	0	0	0	0	0	0	0	1	4602	726	26	2		2	DNAH2	17	7710586	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	132162	7710586	73484624	1623	104643											
CYB5D1	124637	broad.mit.edu	37	chr17	7761538	7761538	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggtggcccaacataAcaggcccgaagacctctggg	15	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7761538A>T	uc002gjb.3	+	1	475	c.86A>T	c.(85-87)AAC>ATC	p.N29I	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.N29I	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	29	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				GCCCAACATAACAGGCCCGAA	0.612											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7761538	A	T	7761538	3	4	191	1	0	0	0	0	1	0	0	0	4124	43	2	5	88	5	CYB5D1	17	7761538	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	50952	7761538	73433672	1624	104644											
CHD3	1107	broad.mit.edu	37	chr17	7803346	7803346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgactcaagaacaaccagTccaaggtgagtgaggtttcc	10	10	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7803346T>C	uc002gje.2	+	16	2827	c.2677T>C	c.(2677-2679)TCC>CCC	p.S893P	CHD3_uc002gjd.2_Missense_Mutation_p.S952P|CHD3_uc002gjf.2_Missense_Mutation_p.S893P	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	893	Helicase ATP-binding.				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(1)	1		Prostate(122;0.202)				GAACAACCAGTCCAAGGTGAG	0.468													C	7803346	T	C	7803346	3	2	191	1	0	0	0	0	1	0	0	0	3326	1667	58	3	3020	3	CHD3	17	7803346	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	41808	7803346	73391864	1625	104645											
CHD3	1107	broad.mit.edu	37	chr17	7814810	7814812	+	In_Frame_Del	DEL	GAA	GAA	-													aacggccctccagtgcttgtGaagaaggagaaggaaatggt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7814809_7814811TGAA>T	uc002gjd.2	+	39	6088_6090	c.6086_6088TGAA>T	c.(6085-6090)gtgaag>gTag	p.K2031del	CHD3_uc002gje.2_In_Frame_Del_p.K1972del|CHD3_uc002gjf.2_In_Frame_Del_p.K1938del|CHD3_uc002gjh.2_In_Frame_Del_p.K549del|CHD3_uc002gjj.2_In_Frame_Del_p.K135del	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1972					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.K1972delK(1)		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)				CCAGTGCTTGTGAAGAAGGAGAA	0.542													-	7814812	GAA	-	7814810	7	5	191	1	0	1	0	1	0	0	0	0	3326	1277	45	0	6349	0	CHD3	17	7814810	In_Frame_Del	DEL	GAA	TCGA-CG-5723-01A-11D-1600-08	11464	7814810	73380400	1626	104646											
GUCY2D	3000	broad.mit.edu	37	chr17	7917326	7917326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccggaacttcggccctccAtggaccacaccttcgacctg	9	17	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7917326A>G	uc002gjt.2	+	12	2466	c.2392A>G	c.(2392-2394)ATG>GTG	p.M798V		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	798	Protein kinase.|Cytoplasmic (Potential).				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			skin(1)	1		Prostate(122;0.157)				TCGGCCCTCCATGGACCACAC	0.617													G	7917326	A	G	7917326	3	3	191	1	0	0	0	0	1	0	0	0	6897	217	8	3	2434	3	GUCY2D	17	7917326	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	102516	7917326	73277884	1627	104647											
ARHGEF15	22899	broad.mit.edu	37	chr17	8222163	8222163	+	Frame_Shift_Del	DEL	C	C	-													ggcgtgctctttgcctcgcgCccccgcttcacccctctttg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:8222162_8222162GC>G	uc002glc.3	+	11	2122	c.1967_1967GC>G	c.(1966-1968)cgcfs	p.R656fs	ARHGEF15_uc002gld.3_Frame_Shift_Del_p.R656fs|ARHGEF15_uc010vuw.2_Frame_Shift_Del_p.R545fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	656					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						TTTGCCTCGCGCCCCCGCTTC	0.642													-	8222163	C	-	8222163	7	5	191	1	0	1	0	1	0	0	0	0	898	726	26	0	2010	0	ARHGEF15	17	8222163	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	304837	8222163	72973047	1628	104648											
MYH10	4628	broad.mit.edu	37	chr17	8381732	8381732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagcttcttctcagtgCgacggactaatttgttggcg	10	10	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:8381732C>T	uc002gll.2	-	39	5633	c.5537G>A	c.(5536-5538)CGC>CAC	p.R1846H	MYH10_uc002glm.2_Missense_Mutation_p.R1877H|MYH10_uc010cnx.2_Missense_Mutation_p.R1855H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1846	Potential.				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			ovary(2)	2						CTTCTCAGTGCGACGGACTAA	0.458													T	8381732	C	T	8381732	3	4	191	1	0	0	0	0	1	0	0	0	10030	768	27	1	405	1	MYH10	17	8381732	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	159569	8381732	72813478	1629	104649											
CCDC42	146849	broad.mit.edu	37	chr17	8638419	8638419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcccctcctcctaccatgtCcagctgcttgtgggtgtcct	9	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:8638419C>T	uc002gln.2	-	6	1095	c.868G>A	c.(868-870)GAC>AAC	p.D290N	CCDC42_uc002glo.2_Missense_Mutation_p.D216N	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	290										ovary(1)	1						CCTACCATGTCCAGCTGCTTG	0.597													T	8638419	C	T	8638419	3	4	191	1	0	0	0	0	1	0	0	0	2814	855	30	4	90	4	CCDC42	17	8638419	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	256687	8638419	72556791	1630	104650											
USP43	124739	broad.mit.edu	37	chr17	9570015	9570015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgcctgtcaccatcagcTcagcttcctctaggtcaaag	7	14	5	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:9570015T>C	uc010cod.2	+	3	687	c.687T>C	c.(685-687)GCT>GCC	p.A229A	USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Silent_p.A229A|USP43_uc010coe.2_Intron	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	229					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CACCATCAGCTCAGCTTCCTC	0.473													C	9570015	T	C	9570015	2	2	191	1	0	0	0	0	0	0	0	1	17071	1538	54	3		3	USP43	17	9570015	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	931596	9570015	71625195	1631	104651											
GAS7	8522	broad.mit.edu	37	chr17	9828912	9828912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctctgtgagggctttcCgggcctggggtccaaggaca	16	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:9828912C>T	uc002gmg.1	-	11	1180	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	GAS7_uc010vvc.1_Missense_Mutation_p.R154Q|GAS7_uc002gmh.1_Missense_Mutation_p.R200Q|GAS7_uc010vvd.1_Missense_Mutation_p.R292Q|GAS7_uc002gmi.2_Missense_Mutation_p.R276Q|GAS7_uc002gmj.1_Missense_Mutation_p.R280Q|GAS7_uc010coh.1_Missense_Mutation_p.R280Q	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	340	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GAGGGCTTTCCGGGCCTGGGG	0.617			T	MLL	AML*								T	9828912	C	T	9828912	3	4	191	1	0	0	0	0	1	0	0	0	6250	652	23	1	427	1	GAS7	17	9828912	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	258897	9828912	71366298	1632	104652											
GAS7	8522	broad.mit.edu	37	chr17	9923135	9923135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaccgccggccctgaggcGacaggtagctctgccagcca	13	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:9923135G>A	uc002gmg.1	-	2	424	c.263C>T	c.(262-264)TCG>TTG	p.S88L	GAS7_uc010vvd.1_Missense_Mutation_p.S40L|GAS7_uc002gmi.2_Missense_Mutation_p.S24L|GAS7_uc002gmj.1_Missense_Mutation_p.S28L|GAS7_uc010coh.1_Missense_Mutation_p.S28L	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	88	WW.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GCCCTGAGGCGACAGGTAGCT	0.597			T	MLL	AML*								A	9923135	G	A	9923135	3	1	191	1	0	0	0	0	1	0	0	0	6250	1059	37	1	1270	1	GAS7	17	9923135	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	94223	9923135	71272075	1633	104653											
MYOCD	93649	broad.mit.edu	37	chr17	12639605	12639605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgggatccccgccagaCgctaaagcctcagatacccc	9	17	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:12639605C>T	uc002gnn.2	+	6	842	c.543C>T	c.(541-543)GAC>GAT	p.D181D	MYOCD_uc002gno.2_Silent_p.D181D|MYOCD_uc002gnp.1_Silent_p.D85D	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	181	HDAC5-binding (By similarity).				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			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCGCCAGACGCTAAAGCCT	0.488													T	12639605	C	T	12639605	2	4	191	1	0	0	0	0	0	0	0	1	10087	535	19	1		1	MYOCD	17	12639605	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2716470	12639605	68555605	1634	104654											
NCOR1	9611	broad.mit.edu	37	chr17	15973548	15973548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataactcacaggggtcctccGtgcactggtgtcatcataaa	9	11	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:15973548G>A	uc002gpo.2	-	31	4684	c.4444C>T	c.(4444-4446)CGG>TGG	p.R1482W	NCOR1_uc002gpn.2_Missense_Mutation_p.R1498W|NCOR1_uc002gpp.1_Missense_Mutation_p.R1389W|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.R66W|NCOR1_uc010coy.2_Missense_Mutation_p.R390W|NCOR1_uc010vwc.1_Missense_Mutation_p.R293W	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1482	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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGGTCCTCCGTGCACTGGTG	0.498													A	15973548	G	A	15973548	3	1	191	1	0	0	0	0	1	0	0	0	10235	1144	40	1	2942	1	NCOR1	17	15973548	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3333943	15973548	65221662	1635	104655											
RAI1	10743	broad.mit.edu	37	chr17	17699170	17699170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggattccaccacctcggacGcctctctggcccagaagccc	10	18	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:17699170G>A	uc002grm.2	+	3	3377	c.2908G>A	c.(2908-2910)GCC>ACC	p.A970T	RAI1_uc002grn.1_Missense_Mutation_p.A970T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	970						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CACCTCGGACGCCTCTCTGGC	0.617													A	17699170	G	A	17699170	3	1	191	1	0	0	0	0	1	0	0	0	13007	1087	38	1	2910	1	RAI1	17	17699170	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1725622	17699170	63496040	1636	104656											
ATPAF2	91647	broad.mit.edu	37	chr17	17929670	17929670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaacttcacggctgcccGgatcagctgatccttgtttc	9	13	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:17929670G>A	uc002gse.1	-	4	538	c.385C>T	c.(385-387)CGG>TGG	p.R129W	ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010cps.1_RNA	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	129					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					ACGGCTGCCCGGATCAGCTGA	0.498													A	17929670	G	A	17929670	3	1	191	1	0	0	0	0	1	0	0	0	1201	1115	39	1	504	1	ATPAF2	17	17929670	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	230500	17929670	63265540	1637	104657											
FLII	2314	broad.mit.edu	37	chr17	18148975	18148975	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccttctcgttggagcacCtgggaatcaagggtcaaggt	13	10	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:18148975C>A	uc002gsr.1	-	28	3555	c.3504_splice	c.e28-1	p.R1168_splice	FLII_uc002gsq.1_Splice_Site_p.R1039_splice|FLII_uc010cpy.1_Splice_Site_p.R1157_splice|FLII_uc010vxn.1_Splice_Site_p.R1137_splice|FLII_uc010vxo.1_Splice_Site_p.R1113_splice	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog						multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					GTTGGAGCACCTGGGAATCAA	0.552													A	18148975	C	A	18148975	5	1	191	1	0	0	0	0	0	0	1	0	5925	695	24	5	318	5	FLII	17	18148975	Splice_Site	SNP	C	TCGA-CG-5723-01A-11D-1600-08	219305	18148975	63046235	1638	104658											
SMCR7	125170	broad.mit.edu	37	chr17	18167618	18167618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctggagctcactgtggCtgtgcttgtggcagtccctg	14	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:18167618C>T	uc002gst.2	+	4	1116	c.905C>T	c.(904-906)GCT>GTT	p.A302V	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.A313V	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	302						integral to membrane	protein binding				0	all_neural(463;0.228)					CTCACTGTGGCTGTGCTTGTG	0.677													T	18167618	C	T	18167618	3	4	191	1	0	0	0	0	1	0	0	0	14790	797	28	2	952	2	SMCR7	17	18167618	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	18643	18167618	63027592	1639	104659											
EPN2	22905	broad.mit.edu	37	chr17	19235367	19235367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagcccagtccctcaaccCtttcctggcaccaggtaggc	8	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19235367C>A	uc002gvd.3	+	10	2061	c.1613C>A	c.(1612-1614)CCT>CAT	p.P538H	EPN2_uc010cql.1_Missense_Mutation_p.P247H|EPN2_uc002gve.3_Missense_Mutation_p.P481H|EPN2_uc002gvf.3_Missense_Mutation_p.P253H|EPN2_uc010vyo.1_Missense_Mutation_p.P246H|EPN2_uc010vyp.1_Missense_Mutation_p.P474H|EPN2_uc010vyq.1_Missense_Mutation_p.P475H|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Missense_Mutation_p.P201H	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	538	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.|1.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TCCCTCAACCCTTTCCTGGCA	0.637													A	19235367	C	A	19235367	3	1	191	1	0	0	0	0	1	0	0	0	5186	681	24	5	1643	5	EPN2	17	19235367	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1067749	19235367	61959843	1640	104660											
MFAP4	4239	broad.mit.edu	37	chr17	19289686	19289686	+	Frame_Shift_Del	DEL	G	G	-													acaggcacactggggcccgaGgggtagatgaggtacacgcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19289685_19289685AG>A	uc002gvs.3	-	2	351	c.250_250CT>T	c.(250-252)tcgfs	p.S84fs	MFAP4_uc002gvt.3_Frame_Shift_Del_p.S60fs	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	60	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)					CTGGGGCCCGAGGGGTAGATG	0.617													-	19289686	G	-	19289686	7	5	191	1	0	1	0	1	0	0	0	0	9517	987	35	0	606	0	MFAP4	17	19289686	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	54319	19289686	61905524	1641	104661											
RNF112	7732	broad.mit.edu	37	chr17	19319112	19319112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagatgccattctggcccGccatggtgtggccttactct	11	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19319112G>A	uc010vyw.1	+	14	1719	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	RNF112_uc010vyv.1_Missense_Mutation_p.R508H	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	507							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						ATTCTGGCCCGCCATGGTGTG	0.602													A	19319112	G	A	19319112	3	1	191	1	0	0	0	0	1	0	0	0	13426	1087	38	1	1284	1	RNF112	17	19319112	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	29426	19319112	61876098	1642	104662											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-													ctctcaccttggccgggctcGgggggtatctgaccttcagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19641648_19641648CG>C	uc002gwk.3	-	7	1949	c.1686_1686CG>G	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					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)	TGGCCGGGCTCGGGGGGTATC	0.627													-	19641649	G	-	19641649	7	5	191	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	322537	19641649	61553561	1643	104663											
KIAA0100	9703	broad.mit.edu	37	chr17	26961681	26961681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggaggcatctgccagaGctaccagttctagccctgct	12	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:26961681G>A	uc002hbu.2	-	16	3023	c.2924C>T	c.(2923-2925)GCT>GTT	p.A975V		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	975						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ATCTGCCAGAGCTACCAGTTC	0.532													A	26961681	G	A	26961681	3	1	191	1	0	0	0	0	1	0	0	0	8154	971	34	2	3879	2	KIAA0100	17	26961681	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7320032	26961681	54233529	1644	104664											
SUPT6H	6830	broad.mit.edu	37	chr17	27017981	27017981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggcattgcccacaggcGtccccagggtgagagctatg	13	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27017981G>A	uc002hby.2	+	27	3623	c.3533G>A	c.(3532-3534)CGT>CAT	p.R1178H	SUPT6H_uc010crt.2_Missense_Mutation_p.R1178H|SUPT6H_uc002hbz.1_Missense_Mutation_p.R110H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1178					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GCCCACAGGCGTCCCCAGGGT	0.542													A	27017981	G	A	27017981	3	1	191	1	0	0	0	0	1	0	0	0	15397	1145	40	1	3635	1	SUPT6H	17	27017981	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	56300	27017981	54177229	1645	104665											
SUPT6H	6830	broad.mit.edu	37	chr17	27028023	27028023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccctagctactcctacaCgaccccaagccagcccatca	5	20	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27028023C>T	uc002hby.2	+	36	4961	c.4871C>T	c.(4870-4872)ACG>ATG	p.T1624M	SUPT6H_uc010crt.2_Missense_Mutation_p.T1624M	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1624					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TACTCCTACACGACCCCAAGC	0.622													T	27028023	C	T	27028023	3	4	191	1	0	0	0	0	1	0	0	0	15397	536	19	1	5009	1	SUPT6H	17	27028023	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	10042	27028023	54167187	1646	104666											
FLOT2	2319	broad.mit.edu	37	chr17	27209007	27209007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggatcttctgctgttcacGggccccctgcagctcatagg	11	15	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27209007G>A	uc002hdc.2	-	8	862	c.739C>T	c.(739-741)CGT>TGT	p.R247C		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	247					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	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)			TGCTGTTCACGGGCCCCCTGC	0.577													A	27209007	G	A	27209007	3	1	191	1	0	0	0	0	1	0	0	0	5937	1116	39	1	563	1	FLOT2	17	27209007	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	180984	27209007	53986203	1647	104667											
PHF12	57649	broad.mit.edu	37	chr17	27238239	27238239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctatggataacgtgccGgggctgaccttgccatctgg	12	12	1	1	rs143319936		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27238239G>A	uc002hdg.1	-	10	2636	c.2106C>T	c.(2104-2106)CCC>CCT	p.P702P	PHF12_uc010wbb.1_Silent_p.P684P|PHF12_uc002hdi.1_Silent_p.P698P|PHF12_uc002hdh.1_Silent_p.P485P	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	702	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	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)			ATAACGTGCCGGGGCTGACCT	0.557													A	27238239	G	A	27238239	2	1	191	1	0	0	0	0	0	0	0	1	11823	1103	39	1		1	PHF12	17	27238239	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	29232	27238239	53956971	1648	104668											
CORO6	84940	broad.mit.edu	37	chr17	27946167	27946167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgtgatgataggttccGtaatgttgcgcatgggggta	15	5	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27946167G>A	uc002hel.2	-	3	364	c.362C>T	c.(361-363)ACG>ATG	p.T121M	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	121					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GATAGGTTCCGTAATGTTGCG	0.567													A	27946167	G	A	27946167	3	1	191	1	0	0	0	0	1	0	0	0	3758	1145	40	1	1088	1	CORO6	17	27946167	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	707928	27946167	53249043	1649	104669											
CPD	1362	broad.mit.edu	37	chr17	28791650	28791650	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacagcttgcattatttggTgcatctgctcaatcaagtct	7	9	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:28791650T>G	uc002hfb.1	+	21	3976	c.3961T>G	c.(3961-3963)TGC>GGC	p.C1321G	CPD_uc010wbo.1_Missense_Mutation_p.C1074G|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1321	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						CATTATTTGGTGCATCTGCTC	0.403													G	28791650	T	G	28791650	3	3	191	1	0	0	0	0	1	0	0	0	3798	1696	59	5	4043	5	CPD	17	28791650	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	845483	28791650	52403560	1650	104670											
ADAP2	55803	broad.mit.edu	37	chr17	29280306	29280306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtctctcttccccagCtcgtgccattcctcaccagg	7	17	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:29280306C>T	uc002hfx.2	+	8	1021	c.742C>T	c.(742-744)CTC>TTC	p.L248F	ADAP2_uc010csk.2_Missense_Mutation_p.L254F|ADAP2_uc002hfy.2_Missense_Mutation_p.L248F|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	248					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)		ovary(1)	1						TCTTCCCCAGCTCGTGCCATT	0.532													T	29280306	C	T	29280306	3	4	191	1	0	0	0	0	1	0	0	0	280	811	28	2	772	2	ADAP2	17	29280306	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	488656	29280306	51914904	1651	104671											
ZNHIT3	9326	broad.mit.edu	37	chr17	34848677	34848677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagtgcaaccctgaaactCgtcctgttgagaaaaaaata	7	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:34848677C>T	uc002hms.1	+	3	210	c.139C>T	c.(139-141)CGT>TGT	p.R47C	ZNHIT3_uc010cus.1_Missense_Mutation_p.R47C|ZNHIT3_uc002hmt.1_RNA|ZNHIT3_uc010cut.1_RNA	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	thyroid hormone receptor interactor 3	47					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		CCCTGAAACTCGTCCTGTTGA	0.453													T	34848677	C	T	34848677	3	4	191	1	0	0	0	0	1	0	0	0	18205	884	31	1	149	1	ZNHIT3	17	34848677	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5568371	34848677	46346533	1652	104672											
ACACA	31	broad.mit.edu	37	chr17	35487138	35487138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgtacacttcccgccCgaggacctagagaaaagagc	13	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:35487138C>T	uc002hnm.2	-	46	5766	c.5575G>A	c.(5575-5577)GGG>AGG	p.G1859R	ACACA_uc002hnk.2_Missense_Mutation_p.G1781R|ACACA_uc002hnl.2_Missense_Mutation_p.G1801R|ACACA_uc002hnn.2_Missense_Mutation_p.G1859R|ACACA_uc002hno.2_Missense_Mutation_p.G1896R|ACACA_uc010cuy.2_Missense_Mutation_p.G504R|ACACA_uc010wdc.1_5'UTR	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1859	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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTTCCCGCCCGAGGACCTAG	0.468													T	35487138	C	T	35487138	3	4	191	1	0	0	0	0	1	0	0	0	106	652	23	1	1509	1	ACACA	17	35487138	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	638461	35487138	45708072	1653	104673											
MLLT6	4302	broad.mit.edu	37	chr17	36865745	36865745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggttagtgcccaaatgGcaggcttgctgtgtgaggaa	14	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:36865745G>A	uc002hqi.3	+	6	482	c.469G>A	c.(469-471)GCA>ACA	p.A157T	MLLT6_uc010wdr.1_Missense_Mutation_p.A157T|MLLT6_uc010cvm.1_Missense_Mutation_p.A157T	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	157	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					TGCCCAAATGGCAGGCTTGCT	0.577			T	MLL	AL								A	36865745	G	A	36865745	3	1	191	1	0	0	0	0	1	0	0	0	9630	1203	42	2	491	2	MLLT6	17	36865745	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1378607	36865745	44329465	1654	104674											
PLXDC1	57125	broad.mit.edu	37	chr17	37234200	37234200	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgatgaagagggaggaGgaggtagtggtgaggtctcc	19	5	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:37234200G>T	uc002hrg.2	-	11	1364	c.1152C>A	c.(1150-1152)TCC>TCA	p.S384S	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.S92S|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	384	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						AGAGGGAGGAGGAGGTAGTGG	0.602													T	37234200	G	T	37234200	2	4	191	1	0	0	0	0	0	0	0	1	12117	987	35	5		5	PLXDC1	17	37234200	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	368455	37234200	43961010	1655	104675											
CDK12	51755	broad.mit.edu	37	chr17	37627892	37627892	+	Frame_Shift_Del	DEL	C	C	-													cctctcaggcaaattctcagCcccctgtacaggtttctgtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:37627891_37627891GC>G	uc010cvv.3	+	1	2392	c.1806_1806GC>G	c.(1804-1806)cagfs	p.Q602fs	CDK12_uc010wef.1_Frame_Shift_Del_p.Q601fs|CDK12_uc002hrw.4_Frame_Shift_Del_p.Q602fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	602					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.Q602*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAATTCTCAGCCCCCTGTAC	0.488			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			-	37627892	C	-	37627892	7	5	191	1	0	1	0	1	0	0	0	0	3128	739	26	0	1813	0	CDK12	17	37627892	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	393692	37627892	43567318	1656	104676											
IKZF3	22806	broad.mit.edu	37	chr17	37922577	37922577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgataactggaaccatctcCgaggtgggagcaggcggtgt	15	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:37922577C>T	uc002hsu.2	-	8	1058	c.996G>A	c.(994-996)TCG>TCA	p.S332S	IKZF3_uc002htd.2_Silent_p.S298S|IKZF3_uc010cwd.2_Silent_p.S189S|IKZF3_uc002hsv.2_Silent_p.S259S|IKZF3_uc010cwe.2_Silent_p.S198S|IKZF3_uc010cwf.2_Silent_p.S150S|IKZF3_uc010cwg.2_Silent_p.S111S|IKZF3_uc002hsw.2_Silent_p.S293S|IKZF3_uc002hsx.2_Silent_p.S276S|IKZF3_uc002hsy.2_Silent_p.S293S|IKZF3_uc002hsz.2_Silent_p.S237S|IKZF3_uc002hta.2_Silent_p.S254S|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.S245S|IKZF3_uc002htc.2_Silent_p.S85S|IKZF3_uc010wel.1_Silent_p.S85S	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	332					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			lung(2)|kidney(2)|skin(2)	6	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)			GAACCATCTCCGAGGTGGGAG	0.572													T	37922577	C	T	37922577	2	4	191	1	0	0	0	0	0	0	0	1	7616	639	23	1		1	IKZF3	17	37922577	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	294685	37922577	43272633	1657	104677											
TNS4	84951	broad.mit.edu	37	chr17	38635981	38635981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactttgaagtggaccaCggtgggcgtggggaggatgt	19	5	0	2	rs141187598	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:38635981C>T	uc010cxb.2	-	10	2019	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	TNS4_uc002huu.3_Intron	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	619	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AAGTGGACCACGGTGGGCGTG	0.617													T	38635981	C	T	38635981	3	4	191	1	0	0	0	0	1	0	0	0	16342	536	19	1	308	1	TNS4	17	38635981	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	713404	38635981	42559229	1658	104678											
KRT10	3858	broad.mit.edu	37	chr17	38976553	38976553	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcatctttgcggttttgTtcagcaagttgttcatattg	9	7	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:38976553T>G	uc002hvi.2	-	4	1016	c.990A>C	c.(988-990)GAA>GAC	p.E330D	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	330	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				TGCGGTTTTGTTCAGCAAGTT	0.403													G	38976553	T	G	38976553	3	3	191	1	0	0	0	0	1	0	0	0	8448	1722	60	5	784	5	KRT10	17	38976553	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	340572	38976553	42218657	1659	104679											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334156	39334156	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagactggcagcactggggTctgaagcagctggacacaca	13	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39334156T>C	uc002hwd.2	-	1	305	c.261A>G	c.(259-261)AGA>AGG	p.R87R		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	87	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCACTGGGGTCTGAAGCAGC	0.672													C	39334156	T	C	39334156	2	2	191	1	0	0	0	0	0	0	0	1	8551	1664	58	3		3	KRTAP4-2	17	39334156	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	357603	39334156	41861054	1660	104680											
KRTAP9-4	85280	broad.mit.edu	37	chr17	39406326	39406326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgcctggttgcctaaaCcagagctgtggctccaactg	11	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39406326C>T	uc002hwi.2	+	1	388	c.354C>T	c.(352-354)AAC>AAT	p.N118N	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	118	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTTGCCTAAACCAGAGCTGTG	0.607													T	39406326	C	T	39406326	2	4	191	1	0	0	0	0	0	0	0	1	8575	506	18	4		4	KRTAP9-4	17	39406326	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	72170	39406326	41788884	1661	104681											
KRT36	8689	broad.mit.edu	37	chr17	39643638	39643638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctcaatctctagcgCgttgaccgtacgtctcagct	9	14	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39643638C>T	uc002hwt.2	-	5	952	c.952G>A	c.(952-954)GCG>ACG	p.A318T		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	318	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				ATCTCTAGCGCGTTGACCGTA	0.632													T	39643638	C	T	39643638	3	4	191	1	0	0	0	0	1	0	0	0	8473	768	27	1	463	1	KRT36	17	39643638	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	237312	39643638	41551572	1662	104682											
KRT13	3860	broad.mit.edu	37	chr17	39658827	39658827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactccgtctctgccaccGtgttctccagccccgctttc	8	19	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39658827G>A	uc002hwu.1	-	6	1106	c.1043C>T	c.(1042-1044)ACG>ATG	p.T348M	KRT13_uc002hwv.1_Missense_Mutation_p.T348M|KRT13_uc002hww.2_Missense_Mutation_p.T241M|KRT13_uc010wfr.1_Missense_Mutation_p.T241M|KRT13_uc010cxo.2_Missense_Mutation_p.T348M|KRT13_uc002hwx.1_Missense_Mutation_p.T336M	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	348	Rod.|Coil 2.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				CTCTGCCACCGTGTTCTCCAG	0.632													A	39658827	G	A	39658827	3	1	191	1	0	0	0	0	1	0	0	0	8450	1145	40	1	345	1	KRT13	17	39658827	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	15189	39658827	41536383	1663	104683											
DHX58	79132	broad.mit.edu	37	chr17	40256929	40256929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtatacactctgatcggccCgggcacggcccctggcctgg	13	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40256929C>T	uc002hyw.3	-	11	1641	c.1418G>A	c.(1417-1419)CGG>CAG	p.R473Q	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R466Q	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	473	Helicase C-terminal.			R -> W (in Ref. 1; BAB13818).	innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGATCGGCCCGGGCACGGCC	0.622													T	40256929	C	T	40256929	3	4	191	1	0	0	0	0	1	0	0	0	4514	652	23	1	634	1	DHX58	17	40256929	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	598102	40256929	40938281	1664	104684											
KAT2A	2648	broad.mit.edu	37	chr17	40266539	40266539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctctccacagggatctgCctcacgccctccttgaagca	8	17	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40266539C>T	uc002hyx.2	-	14	2163	c.2103G>A	c.(2101-2103)AGG>AGA	p.R701R	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	701					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			upper_aerodigestive_tract(1)|lung(1)	2						CAGGGATCTGCCTCACGCCCT	0.582													T	40266539	C	T	40266539	2	4	191	1	0	0	0	0	0	0	0	1	7981	738	26	2		2	KAT2A	17	40266539	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	9610	40266539	40928671	1665	104685											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825735	40825735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggctcccgagacgccgcGcccctttcccgctgctgctg	12	19	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40825735G>A	uc002iau.2	-	4	883	c.416C>T	c.(415-417)GCG>GTG	p.A139V	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A139V	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	139	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGACGCCGCGCCCCTTTCCC	0.711													A	40825735	G	A	40825735	3	1	191	1	0	0	0	0	1	0	0	0	12078	1087	38	1	2005	1	PLEKHH3	17	40825735	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	559196	40825735	40369475	1666	104686											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839898	40839898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcttctccttttctcccGtctgggggacgggctgggcc	15	14	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40839898G>A	uc002iay.2	+	8	1421	c.1205G>A	c.(1204-1206)CGT>CAT	p.R402H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	402	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTTTTCTCCCGTCTGGGGGAC	0.637													A	40839898	G	A	40839898	3	1	191	1	0	0	0	0	1	0	0	0	3646	1145	40	1	1235	1	CNTNAP1	17	40839898	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	14163	40839898	40355312	1667	104687											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-													accctgcccttcagccccctGggggggtgccatccagcctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		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)		TTCAGCCCCCTGGGGGGGTGC	0.632													-	40939870	G	-	40939870	7	5	191	1	0	1	0	1	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	99972	40939870	40255340	1668	104688											
AOC2	314	broad.mit.edu	37	chr17	40997823	40997823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacagccgaggcttggtgCggggagtggactgcccctat	16	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40997823C>T	uc002ibu.2	+	1	1215	c.1180C>T	c.(1180-1182)CGG>TGG	p.R394W	AOC2_uc002ibt.2_Missense_Mutation_p.R394W	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	394					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			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGCTTGGTGCGGGGAGTGGA	0.542													T	40997823	C	T	40997823	3	4	191	1	0	0	0	0	1	0	0	0	727	759	27	1	1182	1	AOC2	17	40997823	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	57953	40997823	40197387	1669	104689											
IFI35	3430	broad.mit.edu	37	chr17	41165127	41165127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccagcaggacccggaaGtgcctaagtctttagtttcc	9	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:41165127G>A	uc010whj.1	+	3	380	c.184G>A	c.(184-186)GTG>ATG	p.V62M		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	62					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGACCCGGAAGTGCCTAAGTC	0.552													A	41165127	G	A	41165127	3	1	191	1	0	0	0	0	1	0	0	0	7516	1029	36	4	194	4	IFI35	17	41165127	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	167304	41165127	40030083	1670	104690											
DHX8	1659	broad.mit.edu	37	chr17	41598812	41598812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctcaccctgctagctGtgtacaactcctggaagaac	7	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:41598812G>A	uc002idu.1	+	21	3215	c.3142G>A	c.(3142-3144)GTG>ATG	p.V1048M	DHX8_uc010wig.1_Missense_Mutation_p.V1048M	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1048						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCTGCTAGCTGTGTACAACTC	0.537													A	41598812	G	A	41598812	3	1	191	1	0	0	0	0	1	0	0	0	4515	1377	48	4	3224	4	DHX8	17	41598812	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	433685	41598812	39596398	1671	104691											
GPATCH8	23131	broad.mit.edu	37	chr17	42477238	42477238	+	Frame_Shift_Del	DEL	G	G	-													gtgcgggactgccactcccaGggggttctggtttgggtcct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:42477237_42477237AG>A	uc002igw.2	-	7	2427	c.2208_2208CT>T	c.(2206-2208)cctfs	p.P736fs	GPATCH8_uc002igv.2_Frame_Shift_Del_p.P658fs|GPATCH8_uc010wiz.2_Frame_Shift_Del_p.P658fs	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	736						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)		TGCCACTCCCAGGGGGTTCTG	0.542													-	42477238	G	-	42477238	7	5	191	1	0	1	0	1	0	0	0	0	6594	1000	35	0	2305	0	GPATCH8	17	42477238	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	878426	42477238	38717972	1672	104692											
CCDC103	388389	broad.mit.edu	37	chr17	42979740	42979740	+	Frame_Shift_Del	DEL	C	C	-													ctttgtggtccaggagaaagCccccctccagcccgagacgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:42979739_42979739GC>G	uc002iho.3	+	3	366	c.283_283GC>G	c.(283-285)gccfs	p.A95fs	EFTUD2_uc002ihn.2_5'Flank|EFTUD2_uc010wje.1_5'Flank|EFTUD2_uc010wjf.1_5'Flank|FAM187A_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	Homo sapiens coiled-coil domain containing 103 (CCDC103), mRNA.	95										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				CCAGGAGAAAGCCCCCCTCCA	0.577													-	42979740	C	-	42979740	7	5	191	1	0	1	0	1	0	0	0	0	2738	739	26	0	294	0	CCDC103	17	42979740	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	502502	42979740	38215470	1673	104693											
GFAP	2670	broad.mit.edu	37	chr17	42990757	42990757	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacgtcaagctccacatgGacctgctgtcgggccagctg	12	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:42990757G>A	uc002ihq.2	-	4	720	c.660C>T	c.(658-660)GTC>GTT	p.V220V	GFAP_uc002ihr.2_Silent_p.V220V|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	220	Linker 12.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				GCTCCACATGGACCTGCTGTC	0.622													A	42990757	G	A	42990757	2	1	191	1	0	0	0	0	0	0	0	1	6337	1161	41	4		4	GFAP	17	42990757	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	11017	42990757	38204453	1674	104694											
ARHGAP27	201176	broad.mit.edu	37	chr17	43475404	43475404	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtactcagagccatctcGgctccgtagctggagggaca	13	12	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:43475404G>A	uc002iix.2	-	10	1179	c.730C>T	c.(730-732)CGA>TGA	p.R244*	ARHGAP27_uc010dak.2_Nonsense_Mutation_p.R217*|ARHGAP27_uc010wjl.1_Nonsense_Mutation_p.R363*	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	585	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					GAGCCATCTCGGCTCCGTAGC	0.552													A	43475404	G	A	43475404	4	1	191	1	0	0	0	0	0	1	0	0	876	1124	39	1	948	1	ARHGAP27	17	43475404	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	484647	43475404	37719806	1675	104695											
ITGB3	3690	broad.mit.edu	37	chr17	45361816	45361816	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgccttccagatgattcGaagaatttctccatccaagt	6	11	2	3	rs141225656		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:45361816G>A	uc002ilj.2	+	4	389	c.369G>A	c.(367-369)TCG>TCA	p.S123S	ITGB3_uc002ili.1_Silent_p.S123S|ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	123	Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CAGATGATTCGAAGAATTTCT	0.428													A	45361816	G	A	45361816	2	1	191	1	0	0	0	0	0	0	0	1	7895	1045	37	1		1	ITGB3	17	45361816	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1886412	45361816	35833394	1676	104696											
LRRC46	90506	broad.mit.edu	37	chr17	45914298	45914298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcgcaaggggaggagAcagtccctgaggccgtctcc	14	14	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:45914298A>G	uc002ima.2	+	8	1034	c.778A>G	c.(778-780)ACA>GCA	p.T260A	LRRC46_uc002imb.2_Missense_Mutation_p.T213A	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	260										ovary(1)	1						AGGGGAGGAGACAGTCCCTGA	0.637													G	45914298	A	G	45914298	3	3	191	1	0	0	0	0	1	0	0	0	9003	275	10	3	808	3	LRRC46	17	45914298	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	552482	45914298	35280912	1677	104697											
HOXB1	3211	broad.mit.edu	37	chr17	46606967	46606967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgtcgactggtctgagGcatctccagctgcctccttg	11	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:46606967G>A	uc002ink.1	-	2	854	c.848C>T	c.(847-849)GCC>GTC	p.A283V		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	283						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGGTCTGAGGCATCTCCAGC	0.632													A	46606967	G	A	46606967	3	1	191	1	0	0	0	0	1	0	0	0	7299	1203	42	2	61	2	HOXB1	17	46606967	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	692669	46606967	34588243	1678	104698											
HOXB3	3213	broad.mit.edu	37	chr17	46628527	46628527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgccgccaccgccgccGccaccacagccctctgctgg	10	24	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:46628527G>A	uc002inn.2	-	2	865	c.465C>T	c.(463-465)GGC>GGT	p.G155G	HOXB3_uc010wlm.1_Silent_p.G82G|HOXB3_uc010dbf.2_Silent_p.G155G|HOXB3_uc010dbg.2_Silent_p.G155G|HOXB3_uc002ino.2_Silent_p.G155G|HOXB3_uc010wlk.1_Silent_p.G23G|HOXB3_uc010wll.1_Silent_p.G82G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	155	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						caccgccgccgccaccACAGC	0.373													A	46628527	G	A	46628527	2	1	191	1	0	0	0	0	0	0	0	1	7302	1074	38	1		1	HOXB3	17	46628527	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	21560	46628527	34566683	1679	104699											
ATP5G1	516	broad.mit.edu	37	chr17	46973023	46973023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccctcccaggaacccGtctctcaagcagcagctctt	7	17	4	0	rs11549733		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:46973023G>A	uc002iog.2	+	5	437	c.303G>A	c.(301-303)CCG>CCA	p.P101P	ATP5G1_uc002ioh.2_Silent_p.P101P	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	101					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	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				0						CCAGGAACCCGTCTCTCAAGC	0.567													A	46973023	G	A	46973023	2	1	191	1	0	0	0	0	0	0	0	1	1153	1132	40	1		1	ATP5G1	17	46973023	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	344496	46973023	34222187	1680	104700											
GNGT2	2793	broad.mit.edu	37	chr17	47284234	47284234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccttgatttcctttcccGctttggaaatctgcgagaac	7	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47284234G>A	uc002ioo.1	-	4	402	c.95C>T	c.(94-96)GCG>GTG	p.A32V		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	32					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TTCCTTTCCCGCTTTGGAAAT	0.483													A	47284234	G	A	47284234	3	1	191	1	0	0	0	0	1	0	0	0	6534	1087	38	1	118	1	GNGT2	17	47284234	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	311211	47284234	33910976	1681	104701											
ZNF652	22834	broad.mit.edu	37	chr17	47394604	47394604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgctgtcatctgtggCctcttcctcactctcttcct	6	15	6	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47394604C>T	uc002iov.3	-	2	948	c.484G>A	c.(484-486)GCC>ACC	p.A162T	ZNF652_uc002iow.2_Missense_Mutation_p.A162T|ZNF652_uc002iou.3_Intron	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	162	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCATCTGTGGCCTCTTCCTCA	0.443													T	47394604	C	T	47394604	3	4	191	1	0	0	0	0	1	0	0	0	18062	739	26	2	1356	2	ZNF652	17	47394604	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	110370	47394604	33800606	1682	104702											
PHB	5245	broad.mit.edu	37	chr17	47486482	47486483	+	Frame_Shift_Del	DEL	CT	CT	-													ctcacctgcctggagaccagCtctctctgggtgattagttc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47486481_47486482GCT>G	uc002iox.1	-	4	505_506	c.432_433AGC>C	c.(430-435)gagctgfs	p.E144fs		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	144					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CTGGAGACCAGCTCTCTCTGGG	0.554													-	47486483	CT	-	47486482	7	5	191	1	0	1	0	1	0	0	0	0	11814	796	28	0	398	0	PHB	17	47486482	Frame_Shift_Del	DEL	CT	TCGA-CG-5723-01A-11D-1600-08	91878	47486482	33708728	1683	104703											
TAC4	255061	broad.mit.edu	37	chr17	47918915	47918915	+	Splice_Site	DEL	T	T	-													aggtttgggcaatacttaccTttttttctccttggctggat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552													-	47918915	T	-	47918915	8	5	191	1	0	1	0	1	0	0	1	0	15497	1623	56	0	104	0	TAC4	17	47918915	Splice_Site	DEL	T	TCGA-CG-5723-01A-11D-1600-08	432433	47918915	33276295	1684	104704											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	191	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	515052	48433967	32761243	1685	104705											
ANKRD40	91369	broad.mit.edu	37	chr17	48777178	48777178	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggttggccaaatagttgggAacaaagggcagttctgactc	14	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:48777178A>T	uc002iso.2	-	3	615	c.360T>A	c.(358-360)GTT>GTA	p.V120V		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	120											0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AATAGTTGGGAACAAAGGGCA	0.443													T	48777178	A	T	48777178	2	4	191	1	0	0	0	0	0	0	0	1	669	233	9	5		5	ANKRD40	17	48777178	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	343211	48777178	32418032	1686	104706											
BZRAP1	9256	broad.mit.edu	37	chr17	56389568	56389568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaccgccaagcaacagcGcagtgggtcagagctgcccc	11	17	1	1	rs143785694	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:56389568G>A	uc002ivx.3	-	17	3485	c.2614C>T	c.(2614-2616)CGC>TGC	p.R872C	BZRAP1_uc010dcs.2_Missense_Mutation_p.R812C|BZRAP1_uc010wnt.1_Missense_Mutation_p.R872C	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	872						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCAACAGCGCAGTGGGTCA	0.687													A	56389568	G	A	56389568	3	1	191	1	0	0	0	0	1	0	0	0	1577	1087	38	1	3019	1	BZRAP1	17	56389568	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7612390	56389568	24805642	1687	104707											
TRIM37	4591	broad.mit.edu	37	chr17	57157177	57157177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaatcatcatctccactGcattcctaatttcccgaaca	4	14	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:57157177G>A	uc002iwy.3	-	7	998	c.554C>T	c.(553-555)GCA>GTA	p.A185V	TRIM37_uc002iwz.3_Missense_Mutation_p.A185V|TRIM37_uc002ixa.3_Missense_Mutation_p.A63V|TRIM37_uc010woc.1_Missense_Mutation_p.A151V	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	185	Potential.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CATCTCCACTGCATTCCTAAT	0.393									Mulibrey_Nanism				A	57157177	G	A	57157177	3	1	191	1	0	0	0	0	1	0	0	0	16508	1319	46	2	2420	2	TRIM37	17	57157177	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	767609	57157177	24038033	1688	104708											
DHX40	79665	broad.mit.edu	37	chr17	57679949	57679949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactacgaagatgtctttgtGcgggctatttcaaaaatgta	9	6	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:57679949G>A	uc002ixn.1	+	15	2020	c.1873G>A	c.(1873-1875)GCG>ACG	p.A625T	DHX40_uc010woe.1_Missense_Mutation_p.A548T|DHX40_uc010wof.1_Missense_Mutation_p.A140T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	625							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGTCTTTGTGCGGGCTATTT	0.338													A	57679949	G	A	57679949	3	1	191	1	0	0	0	0	1	0	0	0	4512	1319	46	2	1931	2	DHX40	17	57679949	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	522772	57679949	23515261	1689	104709											
CLTC	1213	broad.mit.edu	37	chr17	57759076	57759076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgttgcaatgaacctgcGgtctggagtcaacttgcaaa	11	9	2	1	rs141347684		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:57759076G>A	uc002ixq.1	+	21	3761	c.3318G>A	c.(3316-3318)GCG>GCA	p.A1106A	CLTC_uc002ixp.2_Silent_p.A1106A|CLTC_uc002ixr.1_Silent_p.A1110A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1106	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)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGAACCTGCGGTCTGGAGTC	0.418			T	ALK|TFE3	ALCL|renal 								A	57759076	G	A	57759076	2	1	191	1	0	0	0	0	0	0	0	1	3566	1103	39	1		1	CLTC	17	57759076	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	79127	57759076	23436134	1690	104710											
C17orf64	124773	broad.mit.edu	37	chr17	58506875	58506875	+	Frame_Shift_Del	DEL	C	C	-													cagaccccaggtcaagggagCcccctgcctgggcagccaag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:58506874_58506874GC>G	uc002iyq.3	+	4	670	c.581_581GC>G	c.(580-582)agcfs	p.S194fs		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	194										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GGTCAAGGGAGCCCCCTGCCT	0.582													-	58506875	C	-	58506875	7	5	191	1	0	1	0	1	0	0	0	0	1872	738	26	0	600	0	C17orf64	17	58506875	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	747799	58506875	22688335	1691	104711											
APPBP2	10513	broad.mit.edu	37	chr17	58541474	58541474	+	Splice_Site	DEL	A	A	-													gatgcaccatttgtatgcctAaaaaaattatttatagaaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					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)			TTTGTATGCCTAAAAAAATTA	0.323													-	58541474	A	-	58541474	8	5	191	1	0	1	0	1	0	0	1	0	816	377	13	0		0	APPBP2	17	58541474	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	34599	58541474	22653736	1692	104712											
MED13	9969	broad.mit.edu	37	chr17	60059997	60059997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcactgaagccacaggTacacctatattgtgcttcct	8	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:60059997T>C	uc002izo.2	-	16	3444	c.3367A>G	c.(3367-3369)ACC>GCC	p.T1123A		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1123					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			large_intestine(1)|ovary(1)	2						AAGCCACAGGTACACCTATAT	0.408													C	60059997	T	C	60059997	3	2	191	1	0	0	0	0	1	0	0	0	9430	1638	57	3	3217	3	MED13	17	60059997	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1518523	60059997	21135213	1693	104713											
CCDC45	90799	broad.mit.edu	37	chr17	62518978	62518978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcactgctccccagccGtaaattctactggagagcat	8	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:62518978G>A	uc002jem.2	+	8	932	c.874G>A	c.(874-876)GTA>ATA	p.V292I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.V128I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	292						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTCCCCAGCCGTAAATTCTAC	0.463													A	62518978	G	A	62518978	3	1	191	1	0	0	0	0	1	0	0	0	2816	1145	40	1	904	1	CCDC45	17	62518978	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2458981	62518978	18676232	1694	104714											
RGS9	8787	broad.mit.edu	37	chr17	63189717	63189717	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcatgtcaggctgccTccccagcaacccctggatca	8	17	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:63189717T>G	uc002jfe.2	+	12	913	c.803T>G	c.(802-804)CTC>CGC	p.L268R	RGS9_uc010dem.2_Missense_Mutation_p.L265R|RGS9_uc002jfd.2_Missense_Mutation_p.L265R|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.L39R	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	268	G protein gamma.				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			ovary(2)|skin(2)	4						TCAGGCTGCCTCCCCAGCAAC	0.398													G	63189717	T	G	63189717	3	3	191	1	0	0	0	0	1	0	0	0	13313	1551	54	5	849	5	RGS9	17	63189717	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	670739	63189717	18005493	1695	104715											
AXIN2	8313	broad.mit.edu	37	chr17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-													tgcgggggtgcccgctgttgCccccccacagatggtgccgg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:63532584_63532584GC>G	uc002jfi.3	-	7	2284	c.1995_1995GC>C	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACA	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				-	63532585	C	-	63532585	7	5	191	1	0	1	0	1	0	0	0	0	1237	739	26	0	553	0	AXIN2	17	63532585	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	342868	63532585	17662625	1696	104716											
KPNA2	3838	broad.mit.edu	37	chr17	66036862	66036862	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcaatgtggaaaatcagctCcaagctactcaagctgccag	9	11	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:66036862C>G	uc002jgk.2	+	4	414	c.282C>G	c.(280-282)CTC>CTG	p.L94L	KPNA2_uc002jgl.2_Silent_p.L94L	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	94	ARM 1; truncated.				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			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAATCAGCTCCAAGCTACTC	0.418													G	66036862	C	G	66036862	2	3	191	1	0	0	0	0	0	0	0	1	8430	842	30	5		5	KPNA2	17	66036862	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2504277	66036862	15158348	1697	104717											
FAM20A	54757	broad.mit.edu	37	chr17	66538187	66538187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacagacagcctgggggCcaggttgagggacggcagga	20	9	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:66538187C>T	uc002jho.2	-	7	1336	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T	FAM20A_uc010wqp.1_Missense_Mutation_p.A212T|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Nonsense_Mutation_p.W52*	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	350						extracellular region					0	Breast(10;1.64e-13)					AGCCTGGGGGCCAGGTTGAGG	0.607													T	66538187	C	T	66538187	3	4	191	1	0	0	0	0	1	0	0	0	5537	739	26	2	597	2	FAM20A	17	66538187	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	501325	66538187	14657023	1698	104718											
ABCA9	10350	broad.mit.edu	37	chr17	67031809	67031809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaccaactcaccaaagacaGgccatagaggagaaagaggg	11	9	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:67031809G>T	uc002jhu.2	-	7	1077	c.934C>A	c.(934-936)CTG>ATG	p.L312M	ABCA9_uc010dez.2_Missense_Mutation_p.L312M	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	312	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ACCAAAGACAGGCCATAGAGG	0.388													T	67031809	G	T	67031809	3	4	191	1	0	0	0	0	1	0	0	0	39	991	35	5	4072	5	ABCA9	17	67031809	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	493622	67031809	14163401	1699	104719											
ABCA10	10349	broad.mit.edu	37	chr17	67212448	67212448	+	Frame_Shift_Del	DEL	A	A	-													gatgttatgaccagagccatAaaaatggacataatgaagat							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:67212447_67212447TA>T	uc010dfa.1	-	7	1462	c.583_583TA>A	c.(583-585)atgfs	p.M195fs	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Frame_Shift_Del_p.M87fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	195					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)					ACCAGAGCCATAAAAATGGAC	0.368													-	67212448	A	-	67212448	7	5	191	1	0	1	0	1	0	0	0	0	29	359	13	0	4181	0	ABCA10	17	67212448	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	180639	67212448	13982762	1700	104720											
TTYH2	94015	broad.mit.edu	37	chr17	72218769	72218769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctgcatcacctggaCggccgtggtggccgggctca	14	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:72218769C>T	uc002jkc.2	+	2	306	c.275C>T	c.(274-276)ACG>ATG	p.T92M	TTYH2_uc010wqw.1_Missense_Mutation_p.T71M	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	92	Helical; Name=2; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						ATCACCTGGACGGCCGTGGTG	0.622													T	72218769	C	T	72218769	3	4	191	1	0	0	0	0	1	0	0	0	16737	536	19	1	281	1	TTYH2	17	72218769	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5006321	72218769	8976441	1701	104721											
KIF19	124602	broad.mit.edu	37	chr17	72342526	72342526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgccccctagacacagaatCgtgggcagcgtatgaaggag	13	11	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:72342526C>T	uc002jkm.3	+	8	925	c.787C>T	c.(787-789)CGT>TGT	p.R263C	KIF19_uc002jkj.2_Missense_Mutation_p.R263C|KIF19_uc002jkk.2_Missense_Mutation_p.R221C|KIF19_uc002jkl.2_Missense_Mutation_p.R221C	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	263	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						GACACAGAATCGTGGGCAGCG	0.592													T	72342526	C	T	72342526	3	4	191	1	0	0	0	0	1	0	0	0	8282	884	31	1	817	1	KIF19	17	72342526	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	123757	72342526	8852684	1702	104722											
LLGL2	3993	broad.mit.edu	37	chr17	73555400	73555400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgagctgctctacctgGgcaccgagagtggcaacgtg	14	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:73555400G>A	uc002joh.2	+	6	593	c.439G>A	c.(439-441)GGC>AGC	p.G147S	LLGL2_uc002jog.1_Missense_Mutation_p.G147S|LLGL2_uc010dgf.1_Missense_Mutation_p.G147S|LLGL2_uc002joi.2_Missense_Mutation_p.G147S|LLGL2_uc010dgg.1_Missense_Mutation_p.G147S|LLGL2_uc002joj.2_Missense_Mutation_p.G136S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	147	WD 3.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	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)			GCTCTACCTGGGCACCGAGAG	0.642													A	73555400	G	A	73555400	3	1	191	1	0	0	0	0	1	0	0	0	8834	1232	43	4	457	4	LLGL2	17	73555400	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1212874	73555400	7639810	1703	104723											
GALK1	2584	broad.mit.edu	37	chr17	73754610	73754610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcggccgctgcctgggcCgtgcgccgaatctcccccac	14	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:73754610C>T	uc010wsi.1	-	6	927	c.864G>A	c.(862-864)ACG>ACA	p.T288T	GALK1_uc002jpk.2_Silent_p.T288T	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	288			T -> M (in GALCT2).		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	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)			CTGCCTGGGCCGTGCGCCGAA	0.706													T	73754610	C	T	73754610	2	4	191	1	0	0	0	0	0	0	0	1	6203	639	23	1		1	GALK1	17	73754610	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	199210	73754610	7440600	1704	104724											
EVPL	2125	broad.mit.edu	37	chr17	74004930	74004930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctgcaccgtgggaggCcgcttctcgagctcctggat	12	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:74004930C>T	uc002jqi.2	-	22	4584	c.4356G>A	c.(4354-4356)CGG>CGA	p.R1452R	EVPL_uc010wss.1_Silent_p.R1474R|EVPL_uc010wst.1_Silent_p.R922R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1452	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCGTGGGAGGCCGCTTCTCGA	0.637													T	74004930	C	T	74004930	2	4	191	1	0	0	0	0	0	0	0	1	5292	726	26	2		2	EVPL	17	74004930	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	250320	74004930	7190280	1705	104725											
EXOC7	23265	broad.mit.edu	37	chr17	74080177	74080177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctggaatagcccagGccttctggattttgcacagt	11	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:74080177G>A	uc002jqs.2	-	19	2110	c.2015C>T	c.(2014-2016)GCC>GTC	p.A672V	EXOC7_uc002jqp.1_Missense_Mutation_p.P134S|EXOC7_uc010dgv.1_Missense_Mutation_p.A546V|EXOC7_uc002jqq.2_Missense_Mutation_p.A621V|EXOC7_uc010wsw.1_Missense_Mutation_p.A644V|EXOC7_uc010wsx.1_Missense_Mutation_p.A613V|EXOC7_uc002jqr.2_Missense_Mutation_p.A590V|EXOC7_uc010wsv.1_Missense_Mutation_p.A593V	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	672					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			AATAGCCCAGGCCTTCTGGAT	0.527													A	74080177	G	A	74080177	3	1	191	1	0	0	0	0	1	0	0	0	5310	1203	42	2	200	2	EXOC7	17	74080177	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	75247	74080177	7115033	1706	104726											
SPHK1	8877	broad.mit.edu	37	chr17	74382511	74382511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggcctgactgggagaCcgccatccagaagcccctgt	14	14	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:74382511C>T	uc002jrf.1	+	7	1105	c.296C>T	c.(295-297)ACC>ATC	p.T99I	SPHK1_uc002jrg.1_Missense_Mutation_p.T48I|SPHK1_uc002jrh.2_Missense_Mutation_p.T113I|SPHK1_uc002jrj.2_Missense_Mutation_p.T185I|SPHK1_uc002jri.2_Missense_Mutation_p.T99I|SPHK1_uc002jrk.3_Missense_Mutation_p.T99I	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	99	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GACTGGGAGACCGCCATCCAG	0.657											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74382511	C	T	74382511	3	4	191	1	0	0	0	0	1	0	0	0	15045	507	18	4	614	4	SPHK1	17	74382511	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	302334	74382511	6812699	1707	104727											
SEPT9	10801	broad.mit.edu	37	chr17	75478334	75478334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccccggtggacttcgGctacgtggggattgactcca	15	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:75478334G>A	uc002jts.3	+	4	956	c.830G>A	c.(829-831)GGC>GAC	p.G277D	SEPT9_uc010wtk.1_Missense_Mutation_p.G258D|SEPT9_uc002jtt.3_Missense_Mutation_p.G113D|SEPT9_uc002jtu.3_Missense_Mutation_p.G259D|SEPT9_uc002jtv.2_Missense_Mutation_p.G270D|SEPT9_uc002jtw.2_Missense_Mutation_p.G113D|SEPT9_uc002jtx.1_Missense_Mutation_p.G113D|SEPT9_uc010wtl.1_Missense_Mutation_p.G53D|SEPT9_uc002jty.3_Missense_Mutation_p.G26D|SEPT9_uc010wtm.1_Missense_Mutation_p.G26D|SEPT9_uc010wtn.1_Missense_Mutation_p.G26D|SEPT9_uc010dhd.2_Missense_Mutation_p.G165D	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	277					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			GTGGACTTCGGCTACGTGGGG	0.637													A	75478334	G	A	75478334	3	1	191	1	0	0	0	0	1	0	0	0	14071	1203	42	2	1318	2	SEPT9	17	75478334	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1095823	75478334	5716876	1708	104728											
DNAH17	8632	broad.mit.edu	37	chr17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-													cttaccttgtagtccaggttGggggggatctgaaagccggg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:76425216_76425216TG>T	uc010dhp.2	-	75	12516	c.12391_12391CA>A	c.(12391-12393)aacfs	p.N4131fs	DNAH17_uc002jvq.3_Frame_Shift_Del_p.N416fs|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			TAGTCCAGGTTGGGGGGGATC	0.582													-	76425217	G	-	76425217	7	5	191	1	0	1	0	1	0	0	0	0	4601	1335	47	0	1022	0	DNAH17	17	76425217	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	946883	76425217	4769993	1709	104729											
DNAH17	8632	broad.mit.edu	37	chr17	76430202	76430202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaccggttccagccctgggCgccgaacttgcgcctctctg	12	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:76430202C>A	uc010dhp.1	-	20	3355	c.3133G>T	c.(3133-3135)GCC>TCC	p.A1045S	DNAH17_uc002jvq.2_Missense_Mutation_p.A330S|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCCCTGGGCGCCGAACTTG	0.602													A	76430202	C	A	76430202	3	1	191	1	0	0	0	0	1	0	0	0	4601	768	27	5	1283	5	DNAH17	17	76430202	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4985	76430202	4765008	1710	104730											
TIMP2	7077	broad.mit.edu	37	chr17	76869992	76869992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctcactgaccgctttgGccctgatcactgcaaaacac	6	16	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:76869992G>A	uc002jwf.2	-	2	442	c.140C>T	c.(139-141)GCC>GTC	p.A47V	TIMP2_uc002jwe.2_5'UTR|TIMP2_uc010wty.1_5'UTR	NM_003255	NP_003246	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2 precursor	47	NTR.			VIRAKAV -> GKESGDP (in Ref. 10).			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)			GACCGCTTTGGCCCTGATCAC	0.507													A	76869992	G	A	76869992	3	1	191	1	0	0	0	0	1	0	0	0	15915	1203	42	2	538	2	TIMP2	17	76869992	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	439790	76869992	4325218	1711	104731											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043914	77043914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcctctacttcttcagccTcaacgtgcacacctggaacc	7	17	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:77043914T>C	uc002jwp.2	+	4	930	c.590T>C	c.(589-591)CTC>CCC	p.L197P	C1QTNF1_uc002jwq.2_Missense_Mutation_p.L115P|C1QTNF1_uc002jwr.3_Missense_Mutation_p.L207P|C1QTNF1_uc002jws.2_Missense_Mutation_p.L197P|C1QTNF1_uc002jwt.2_Missense_Mutation_p.L295P	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	197	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TTCTTCAGCCTCAACGTGCAC	0.557													C	77043914	T	C	77043914	3	2	191	1	0	0	0	0	1	0	0	0	1962	1551	54	3	600	3	C1QTNF1	17	77043914	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	173922	77043914	4151296	1712	104732											
CBX8	57332	broad.mit.edu	37	chr17	77769888	77769888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttgggcttgggtccacGctttttggggccatagagct	15	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:77769888G>A	uc002jxd.1	-	4	307	c.214C>T	c.(214-216)CGT>TGT	p.R72C		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	72					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTGGGTCCACGCTTTTTGGGG	0.517													A	77769888	G	A	77769888	3	1	191	1	0	0	0	0	1	0	0	0	2724	1087	38	1	938	1	CBX8	17	77769888	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	725974	77769888	3425322	1713	104733											
CARD14	79092	broad.mit.edu	37	chr17	78162303	78162305	+	In_Frame_Del	DEL	AGG	AGG	-													tgaggagctgaaccgcctgaAggaggagaatgagaaactgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:78162302_78162304AAGG>A	uc002jxw.1	+	4	996_998	c.802_804AAGG>A	c.(802-804)aag>A	p.K268del	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_In_Frame_Del_p.K268del|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_In_Frame_Del_p.K31del|CARD14_uc010dhu.1_In_Frame_Del_p.K66del	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	268					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)			GAACCGCCTGAAGGAGGAGAATG	0.621													-	78162305	AGG	-	78162303	7	5	191	1	0	1	0	1	0	0	0	0	2646	72	3	0	817	0	CARD14	17	78162303	In_Frame_Del	DEL	AGG	TCGA-CG-5723-01A-11D-1600-08	392415	78162303	3032907	1714	104734											
RNF213	57674	broad.mit.edu	37	chr17	78317076	78317076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgcccttcctggatgCgcagtatcagaaggtccccg	11	15	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:78317076C>T	uc002jyh.1	+	2	576	c.353C>T	c.(352-354)GCG>GTG	p.A118V		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTCCTGGATGCGCAGTATCAG	0.562													T	78317076	C	T	78317076	3	4	191	1	0	0	0	0	1	0	0	0	13477	768	27	1	6555	1	RNF213	17	78317076	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	154773	78317076	2878134	1715	104735											
C17orf70	80233	broad.mit.edu	37	chr17	79514156	79514156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggaagcgcagacacTgcagcatgtccactgtgtgc	14	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:79514156T>C	uc002kaq.2	-	5	2007	c.1952A>G	c.(1951-1953)CAG>CGG	p.Q651R	C17orf70_uc002kao.1_Missense_Mutation_p.Q300R|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.Q500R	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	651					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGCAGACACTGCAGCATGTC	0.657													C	79514156	T	C	79514156	3	2	191	1	0	0	0	0	1	0	0	0	1877	1580	55	3	713	3	C17orf70	17	79514156	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1197080	79514156	1681054	1716	104736											
SLC16A3	9123	broad.mit.edu	37	chr17	80195343	80195343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctttgtgctttacgccGtggccgcctcggtcatggtg	15	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:80195343G>A	uc002kea.2	+	4	836	c.697G>A	c.(697-699)GTG>ATG	p.V233M	SLC16A3_uc002kee.2_Missense_Mutation_p.V233M|SLC16A3_uc002keb.2_Missense_Mutation_p.V233M|SLC16A3_uc002kec.2_Missense_Mutation_p.V233M|SLC16A3_uc002ked.2_Missense_Mutation_p.V233M	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	233	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GCTTTACGCCGTGGCCGCCTC	0.716													A	80195343	G	A	80195343	3	1	191	1	0	0	0	0	1	0	0	0	14409	1145	40	1	707	1	SLC16A3	17	80195343	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	681187	80195343	999867	1717	104737											
TBCD	6904	broad.mit.edu	37	chr17	80884364	80884364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacggcttgaaggccattgCgaggtgagtcccaacagttc	13	10	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:80884364C>T	uc002kfz.2	+	28	2598	c.2468C>T	c.(2467-2469)GCG>GTG	p.A823V	TBCD_uc002kfy.1_Missense_Mutation_p.A823V|TBCD_uc002kgb.1_Missense_Mutation_p.A148V|TBCD_uc002kgc.2_5'Flank|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	823					'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				0	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)			AAGGCCATTGCGAGGTGAGTC	0.507													T	80884364	C	T	80884364	3	4	191	1	0	0	0	0	1	0	0	0	15630	768	27	1	2578	1	TBCD	17	80884364	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	689021	80884364	310846	1718	104738											
COLEC12	81035	broad.mit.edu	37	chr18	347267	347267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctcacgaagttgctgacGgagatctagaatgtctgatc	10	8	3	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:347267G>A	uc002kkm.2	-	5	570	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	119	Potential.|Extracellular (Potential).				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			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGTTGCTGACGGAGATCTAGA	0.468													A	347267	G	A	347267	3	1	191	1	0	0	0	0	1	0	0	0	3712	1116	39	1	1897	1	COLEC12	18	347267	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08		347267	77729981	1719	104739											
DLGAP1	9229	broad.mit.edu	37	chr18	3879906	3879906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggcccacgcactcagCctggaaggagttccgctggg	16	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:3879906C>A	uc002kmf.2	-	1	230	c.163G>T	c.(163-165)GCT>TCT	p.A55S	DLGAP1_uc010wyz.1_Missense_Mutation_p.A55S|DLGAP1_uc002kmk.2_Missense_Mutation_p.A55S|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	55					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				ACGCACTCAGCCTGGAAGGAG	0.662													A	3879906	C	A	3879906	3	1	191	1	0	0	0	0	1	0	0	0	4559	739	26	5	2865	5	DLGAP1	18	3879906	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	3532639	3879906	74197342	1720	104740											
EPB41L3	23136	broad.mit.edu	37	chr18	5397065	5397065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actactagttacctcaaaatGaggtttttgttccaaagttt	6	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:5397065G>A	uc002kmt.1	-	18	2919	c.2833C>T	c.(2833-2835)CAT>TAT	p.H945Y	EPB41L3_uc010wzh.1_Missense_Mutation_p.H776Y|EPB41L3_uc002kmu.1_Missense_Mutation_p.H723Y|EPB41L3_uc010dkq.1_Missense_Mutation_p.H614Y|EPB41L3_uc002kms.1_Missense_Mutation_p.H180Y|EPB41L3_uc010wze.1_Missense_Mutation_p.H250Y|EPB41L3_uc010wzf.1_Missense_Mutation_p.H242Y|EPB41L3_uc010wzg.1_Missense_Mutation_p.H217Y|EPB41L3_uc010dkr.2_Missense_Mutation_p.H337Y	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	945	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						ACCTCAAAATGAGGTTTTTGT	0.413													A	5397065	G	A	5397065	3	1	191	1	0	0	0	0	1	0	0	0	5154	1290	45	4	450	4	EPB41L3	18	5397065	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1517159	5397065	72680183	1721	104741											
LAMA1	284217	broad.mit.edu	37	chr18	7015794	7015794	+	Frame_Shift_Del	DEL	G	G	-													acttcacaccctgtgtgtgaGgggggcagacacactctcca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:7015793_7015793AG>A	uc002knm.3	-	21	3148	c.3054_3054CT>T	c.(3052-3054)cctfs	p.P1018fs	LAMA1_uc010wzj.2_Frame_Shift_Del_p.P494fs	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1018	Laminin EGF-like 11.				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)	CCTGTGTGTGAGGGGGGCAGA	0.552													-	7015794	G	-	7015794	7	5	191	1	0	1	0	1	0	0	0	0	8605	1000	35	0	6342	0	LAMA1	18	7015794	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	1618729	7015794	71061454	1722	104742											
LAMA1	284217	broad.mit.edu	37	chr18	7044752	7044752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccggaggacacggttccCggcctccagggctgctgatg	15	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:7044752C>T	uc002knm.2	-	7	1039	c.945G>A	c.(943-945)CCG>CCA	p.P315P	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	315	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACGGTTCCCGGCCTCCAGG	0.478													T	7044752	C	T	7044752	2	4	191	1	0	0	0	0	0	0	0	1	8605	639	23	1		1	LAMA1	18	7044752	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	28958	7044752	71032496	1723	104743											
RAB12	201475	broad.mit.edu	37	chr18	8636338	8636338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatatttttgaaacttgtcGatgacattctgaaaaaggta	8	4	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:8636338G>A	uc002knp.2	+	5	887	c.604G>A	c.(604-606)GAT>AAT	p.D202N		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	202					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						GAAACTTGTCGATGACATTCT	0.338													A	8636338	G	A	8636338	3	1	191	1	0	0	0	0	1	0	0	0	12898	1058	37	1	622	1	RAB12	18	8636338	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1591586	8636338	69440910	1724	104744											
RNMT	8731	broad.mit.edu	37	chr18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-													acaatatgaaactagtctacAaaaaaacatttctggaattc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:13746252_13746252CA>C	uc002ksk.1	+	7	1240	c.1173_1173CA>C	c.(1171-1173)tacfs	p.Y391fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.Y391fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.Y391fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.Y391fs|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	391					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACTAGTCTACAAAAAAACAT	0.303													-	13746253	A	-	13746253	7	5	191	1	0	1	0	1	0	0	0	0	13506	131	5	0	1200	0	RNMT	18	13746253	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	5109915	13746253	64330995	1725	104745											
CTAGE1	64693	broad.mit.edu	37	chr18	19996086	19996086	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcccacggaggtgccagGggcccagcgtcagaaggagc	16	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:19996086G>T	uc002ktv.1	-	1	1793	c.1689C>A	c.(1687-1689)CCC>CCA	p.P563P		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	563						integral to membrane				ovary(1)	1	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)					GAGGTGCCAGGGGCCCAGCGT	0.512													T	19996086	G	T	19996086	2	4	191	1	0	0	0	0	0	0	0	1	3992	1219	43	5		5	CTAGE1	18	19996086	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6249833	19996086	58081162	1726	104746											
LAMA3	3909	broad.mit.edu	37	chr18	21338391	21338392	+	Frame_Shift_Ins	INS	-	-	G													atgccagcaccacacctgtgINSgggagacgtgtgatcgctgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:21338390_21338391T>TG	uc002kuq.3	+	6	1064_1065	c.978_979T>TG	c.(976-981)tgtgggfs	p.C326fs	LAMA3_uc010dlv.2_Frame_Shift_Ins_p.C326fs|LAMA3_uc002kur.3_Frame_Shift_Ins_p.C326fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	326	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)	ACCACACCTGTGGGGAGACGTG	0.569													G	21338392	-	G	21338391	7	5	191	1	0	1	1	0	0	0	0	0	8607	1348	47	0	1005	0	LAMA3	18	21338391	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	1342305	21338391	56738857	1727	104747											
LAMA3	3909	broad.mit.edu	37	chr18	21495340	21495340	+	Frame_Shift_Del	DEL	A	A	-													ttctgagcttgtacaacttcAaaaaaacattcaatctcaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:21495339_21495339CA>C	uc002kuq.3	+	58	7817	c.7731_7731CA>C	c.(7729-7731)ttcfs	p.F2577fs	LAMA3_uc002kur.3_Frame_Shift_Del_p.F2521fs|LAMA3_uc002kus.4_Frame_Shift_Del_p.F968fs|LAMA3_uc002kut.4_Frame_Shift_Del_p.F912fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2577	Laminin G-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)	TGTACAACTTCAAAAAAACAT	0.358													-	21495340	A	-	21495340	7	5	191	1	0	1	0	1	0	0	0	0	8607	131	5	0	8141	0	LAMA3	18	21495340	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	156949	21495340	56581908	1728	104748											
OSBPL1A	114876	broad.mit.edu	37	chr18	21891961	21891961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttacctctaatgatttcTtcaggtctgcagcagaaacc	6	10	4	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:21891961T>C	uc002kve.2	-	13	1253	c.1079A>G	c.(1078-1080)AAG>AGG	p.K360R	OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.K140R	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	360					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	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)					TAATGATTTCTTCAGGTCTGC	0.388													C	21891961	T	C	21891961	3	2	191	1	0	0	0	0	1	0	0	0	11277	1609	56	3	1837	3	OSBPL1A	18	21891961	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	396621	21891961	56185287	1729	104749											
DSG4	147409	broad.mit.edu	37	chr18	28991227	28991227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctatgcagccgggggcaCggtggaaggaggtgtatcgg	18	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:28991227C>T	uc002kwq.2	+	15	2306	c.2171C>T	c.(2170-2172)ACG>ATG	p.T724M	DSG4_uc002kwr.2_Missense_Mutation_p.T743M	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	724	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCGGGGGCACGGTGGAAGGA	0.468													T	28991227	C	T	28991227	3	4	191	1	0	0	0	0	1	0	0	0	4779	536	19	1	2350	1	DSG4	18	28991227	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	7099266	28991227	49086021	1730	104750											
FHOD3	80206	broad.mit.edu	37	chr18	34340669	34340669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgagaacatgaaggctgtGctgaaaacctcgtccccctc	9	14	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:34340669G>A	uc002kzt.1	+	22	4045	c.3948G>A	c.(3946-3948)GTG>GTA	p.V1316V	FHOD3_uc002kzs.1_Silent_p.V1333V|FHOD3_uc010dmz.1_Silent_p.V1048V|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1316					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGAAGGCTGTGCTGAAAACCT	0.682													A	34340669	G	A	34340669	2	1	191	1	0	0	0	0	0	0	0	1	5883	1306	46	2		2	FHOD3	18	34340669	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5349442	34340669	43736579	1731	104751											
KIAA1328	57536	broad.mit.edu	37	chr18	34465570	34465570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagactgaaagctgagcaggAgtcatttgagaagaagatca	12	5	2	6			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:34465570A>G	uc002kzz.2	+	5	405	c.383A>G	c.(382-384)GAG>GGG	p.E128G		NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	128	Potential.									central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		GCTGAGCAGGAGTCATTTGAG	0.328													G	34465570	A	G	34465570	3	3	191	1	0	0	0	0	1	0	0	0	8225	304	11	3	401	3	KIAA1328	18	34465570	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	124901	34465570	43611678	1732	104752											
CELF4	56853	broad.mit.edu	37	chr18	34850756	34850756	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggggtggatgccattggcGaacacagcttccgcagcagg	15	10	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:34850756G>A	uc002lae.2	-	8	1470	c.1074C>T	c.(1072-1074)TTC>TTT	p.F358F	CELF4_uc010dnd.1_Silent_p.F356F|CELF4_uc002lag.2_Silent_p.F348F|CELF4_uc002laf.2_Silent_p.F353F|CELF4_uc002lai.2_Silent_p.F343F|CELF4_uc002lah.1_Silent_p.F83F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	358					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			ovary(2)	2						TGCCATTGGCGAACACAGCTT	0.572													A	34850756	G	A	34850756	2	1	191	1	0	0	0	0	0	0	0	1	3218	1049	37	1		1	CELF4	18	34850756	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	385186	34850756	43226492	1733	104753											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260327	44260327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtagtagacagcttgcggcGattcgaagtcgtccagcacg	13	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:44260327G>A	uc002lcj.1	-	7	1377	c.809C>T	c.(808-810)TCG>TTG	p.S270L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S117L|ST8SIA5_uc010xcy.1_Missense_Mutation_p.S306L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S239L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	270	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGCTTGCGGCGATTCGAAGTC	0.622													A	44260327	G	A	44260327	3	1	191	1	0	0	0	0	1	0	0	0	15234	1059	37	1	325	1	ST8SIA5	18	44260327	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	9409571	44260327	33816921	1734	104754											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566726	45566726	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggaaagaagtccggggcGaatggagacaaggagggtct	18	5	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:45566726G>A	uc002lda.2	-	1	769	c.753C>T	c.(751-753)TTC>TTT	p.F251F	ZBTB7C_uc002ldb.2_Silent_p.F251F|ZBTB7C_uc010dnu.2_Silent_p.F260F|ZBTB7C_uc010dnv.2_Silent_p.F273F|ZBTB7C_uc010dnw.2_Silent_p.F251F|ZBTB7C_uc010dnx.1_Silent_p.F251F|ZBTB7C_uc010dny.1_Silent_p.F251F|ZBTB7C_uc010dnz.1_Silent_p.F273F|ZBTB7C_uc010dob.1_Silent_p.F251F|ZBTB7C_uc010doc.1_Silent_p.F260F|ZBTB7C_uc010dod.1_Silent_p.F273F|ZBTB7C_uc010doe.1_Silent_p.F251F|ZBTB7C_uc010dof.1_Silent_p.F251F|ZBTB7C_uc010dog.1_Silent_p.F251F|ZBTB7C_uc010doh.1_Silent_p.F260F|ZBTB7C_uc010doi.1_Silent_p.F251F|ZBTB7C_uc010doj.1_Silent_p.F260F|ZBTB7C_uc010dok.1_Silent_p.F300F|ZBTB7C_uc010dol.1_Silent_p.F260F|ZBTB7C_uc010doa.1_Silent_p.F273F|ZBTB7C_uc010don.1_Silent_p.F259F|ZBTB7C_uc010doo.1_Silent_p.F251F|ZBTB7C_uc010dop.1_Silent_p.F251F|ZBTB7C_uc010doq.1_Silent_p.F260F|ZBTB7C_uc010dor.1_Silent_p.F273F|ZBTB7C_uc010dos.1_Silent_p.F251F|ZBTB7C_uc010dot.1_Silent_p.F251F|ZBTB7C_uc010dou.1_Silent_p.F260F|ZBTB7C_uc010dom.1_Silent_p.F260F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	251						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGTCCGGGGCGAATGGAGACA	0.597													A	45566726	G	A	45566726	2	1	191	1	0	0	0	0	0	0	0	1	17552	1049	37	1		1	ZBTB7C	18	45566726	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1306399	45566726	32510522	1735	104755											
CXXC1	30827	broad.mit.edu	37	chr18	47812174	47812174	+	Frame_Shift_Del	DEL	C	C	-													tctgccggatcttgttggggCccccgaacttcttcatgtcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:47812173_47812173GC>G	uc002leq.4	-	4	1318	c.585_585GC>C	c.(583-585)ggcfs	p.G195fs	CXXC1_uc002lep.4_Frame_Shift_Del_p.G52fs|CXXC1_uc002ler.4_Frame_Shift_Del_p.G195fs|CXXC1_uc010doy.3_Frame_Shift_Del_p.G195fs	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	195					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	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						TCTTGTTGGGGCCCCCGAACT	0.622													-	47812174	C	-	47812174	7	5	191	1	0	1	0	1	0	0	0	0	4097	739	26	0	1442	0	CXXC1	18	47812174	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	2245448	47812174	30265074	1736	104756											
C18orf26	284254	broad.mit.edu	37	chr18	52258560	52258560	+	Frame_Shift_Del	DEL	A	A	-													attgaacgttgagcactctgAaaaccagccggtgagtgtcc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:52258559_52258559GA>G	uc002lfq.1	+	0	170	c.124_124GA>G	c.(124-126)gaafs	p.E42fs		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	42						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGAGCACTCTGAAAACCAGCC	0.358													-	52258560	A	-	52258560	7	5	191	1	0	1	0	1	0	0	0	0	1900	246	9	0	127	0	C18orf26	18	52258560	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	4446386	52258560	25818688	1737	104757											
WDR7	23335	broad.mit.edu	37	chr18	54603098	54603098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctcgctcattgccaccGccagaccacccgccttcatc	5	22	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:54603098G>A	uc002lgk.1	+	23	4004	c.3793G>A	c.(3793-3795)GCC>ACC	p.A1265T	WDR7_uc002lgl.1_Missense_Mutation_p.A1232T	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1265										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CATTGCCACCGCCAGACCACC	0.527													A	54603098	G	A	54603098	3	1	191	1	0	0	0	0	1	0	0	0	17317	1087	38	1	3879	1	WDR7	18	54603098	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2344538	54603098	23474150	1738	104758											
ZNF532	55205	broad.mit.edu	37	chr18	56586342	56586342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctgcatcgctgccatcGcggctctcagcgctaaaaag	10	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:56586342G>A	uc002lho.2	+	4	1370	c.823G>A	c.(823-825)GCG>ACG	p.A275T	ZNF532_uc002lhp.2_Missense_Mutation_p.A273T|ZNF532_uc010xeg.1_Missense_Mutation_p.A273T|ZNF532_uc002lhr.2_Missense_Mutation_p.A273T|ZNF532_uc002lhs.2_Missense_Mutation_p.A273T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CGCTGCCATCGCGGCTCTCAG	0.552													A	56586342	G	A	56586342	3	1	191	1	0	0	0	0	1	0	0	0	17969	1087	38	1	825	1	ZNF532	18	56586342	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1983244	56586342	21490906	1739	104759											
ZNF532	55205	broad.mit.edu	37	chr18	56646392	56646392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcatcaggaaagtgtacGcctgctcgtaagtcctggtt	12	9	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:56646392G>A	uc002lho.2	+	9	3803	c.3256G>A	c.(3256-3258)GCC>ACC	p.A1086T	ZNF532_uc002lhp.2_Missense_Mutation_p.A1084T|ZNF532_uc010xeg.1_Missense_Mutation_p.A1084T|ZNF532_uc002lhr.2_Missense_Mutation_p.A1084T|ZNF532_uc002lhs.2_Missense_Mutation_p.A1084T|ZNF532_uc010xeh.1_Intron	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1086	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GAAAGTGTACGCCTGCTCGTA	0.527													A	56646392	G	A	56646392	3	1	191	1	0	0	0	0	1	0	0	0	17969	1087	38	1	3278	1	ZNF532	18	56646392	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	60050	56646392	21430856	1740	104760											
CPLX4	339302	broad.mit.edu	37	chr18	56979989	56979989	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctttttctgtgtaaatgcAgcatctctttccatcctaaa	5	11	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:56979989A>G	uc002lhy.2	-	2	370	c.183T>C	c.(181-183)GCT>GCC	p.A61A		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	61					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				GTGTAAATGCAGCATCTCTTT	0.438													G	56979989	A	G	56979989	2	3	191	1	0	0	0	0	0	0	0	1	3807	175	7	3		3	CPLX4	18	56979989	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	333597	56979989	21097259	1741	104761											
LMAN1	3998	broad.mit.edu	37	chr18	57020530	57020530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagcttgactagccccGtcactatagtgtaaggggga	12	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:57020530G>A	uc002lhz.2	-	5	575	c.543C>T	c.(541-543)GAC>GAT	p.D181D	LMAN1_uc010xek.1_Silent_p.D181D	NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	181	Lumenal (Potential).|L-type lectin-like.	Calcium.			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			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GACTAGCCCCGTCACTATAGT	0.403													A	57020530	G	A	57020530	2	1	191	1	0	0	0	0	0	0	0	1	8836	1136	40	1		1	LMAN1	18	57020530	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	40541	57020530	21056718	1742	104762											
LMAN1	3998	broad.mit.edu	37	chr18	57021815	57021815	+	Splice_Site	DEL	A	A	-													tatagcaggattatttttctAaaaaaaaggaaaacatttta							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:57021814_57021814TA>T	uc002lhz.3	-	4	510	c.478_splice	c.e4-1	p.K160_splice	LMAN1_uc010xek.1_Splice_Site_p.K160_splice	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	160	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	ATTATTTTTCTAAAAAAAAGG	0.289													-	57021815	A	-	57021815	8	5	191	1	0	1	0	1	0	0	1	0	8836	377	13	0		0	LMAN1	18	57021815	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	1285	57021815	21055433	1743	104763											
KIAA1468	57614	broad.mit.edu	37	chr18	59895676	59895676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatagttcagacaagggAaaaaacacagacatccatct	7	8	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:59895676A>G	uc002lil.2	+	8	1508	c.1293A>G	c.(1291-1293)GGA>GGG	p.G431G	KIAA1468_uc002lik.1_Silent_p.G431G|KIAA1468_uc010xel.1_Silent_p.G431G|KIAA1468_uc002lim.2_Silent_p.G75G	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	431							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				CAGACAAGGGAAAAAACACAG	0.433													G	59895676	A	G	59895676	2	3	191	1	0	0	0	0	0	0	0	1	8236	233	9	3		3	KIAA1468	18	59895676	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2873861	59895676	18181572	1744	104764											
SERPINB4	6318	broad.mit.edu	37	chr18	61326636	61326636	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggtgaaattacctgTaaaaatagatacgttttttc	8	6	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:61326636T>C	uc002ljg.2	-	3	374	c.348A>G	c.(346-348)TTA>TTG	p.L116L	SERPINB3_uc002lji.2_Silent_p.L116L|SERPINB3_uc010dqa.2_Silent_p.L116L|SERPINB3_uc010dqb.2_Silent_p.L116L			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	116					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						AAATTACCTGTAAAAATAGAT	0.433													C	61326636	T	C	61326636	2	2	191	1	0	0	0	0	0	0	0	1	14103	1635	57	3		3	SERPINB4	18	61326636	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1430960	61326636	16750612	1745	104765											
SERPINB8	5271	broad.mit.edu	37	chr18	61652328	61652328	+	Splice_Site	DEL	A	A	-													actttaatttttccgttaggAaaaaaagacagtgcagatga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:61652327_61652327GA>G	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					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)				TTTCCGTTAGGAAAAAAAGAC	0.373													-	61652328	A	-	61652328	8	5	191	1	0	1	0	1	0	0	1	0	14107	260	9	0	587	0	SERPINB8	18	61652328	Splice_Site	DEL	A	TCGA-CG-5723-01A-11D-1600-08	325692	61652328	16424920	1746	104766											
RTTN	25914	broad.mit.edu	37	chr18	67836303	67836303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgataaaaactcgcttgCcttggtgaattaaaaaaaca	6	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:67836303C>A	uc002lkp.2	-	12	1545	c.1477G>T	c.(1477-1479)GCA>TCA	p.A493S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Intron|RTTN_uc002lkq.1_Missense_Mutation_p.A493S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	493							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				AACTCGCTTGCCTTGGTGaat	0.284													A	67836303	C	A	67836303	3	1	191	1	0	0	0	0	1	0	0	0	13737	753	26	5	5355	5	RTTN	18	67836303	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6183975	67836303	10240945	1747	104767											
C18orf55	29090	broad.mit.edu	37	chr18	71822600	71822600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccagtcctagcaagataTatgggagagccttagaaaaa	9	8	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:71822600T>C	uc010dqr.1	+	3	722	c.424T>C	c.(424-426)TAT>CAT	p.Y142H		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	142					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)				TAGCAAGATATATGGGAGAGC	0.413													C	71822600	T	C	71822600	3	2	191	1	0	0	0	0	1	0	0	0	1905	1406	49	3	434	3	C18orf55	18	71822600	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3986297	71822600	6254648	1748	104768											
TSHZ1	10194	broad.mit.edu	37	chr18	72999246	72999246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccccagggagcctcacGcccccaccgcacaagagcaa	8	20	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:72999246G>A	uc002lly.2	+	2	2312	c.1749G>A	c.(1747-1749)ACG>ACA	p.T583T		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	628						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GGAGCCTCACGCCCCCACCGC	0.642													A	72999246	G	A	72999246	2	1	191	1	0	0	0	0	0	0	0	1	16620	1074	38	1		1	TSHZ1	18	72999246	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1176646	72999246	5078002	1749	104769											
NFATC1	4772	broad.mit.edu	37	chr18	77211059	77211059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtacggctggtgttccgCgttcacgtcccgcaacccag	13	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:77211059C>T	uc010xfg.1	+	5	2148	c.1695C>T	c.(1693-1695)CGC>CGT	p.R565R	NFATC1_uc002lnc.1_Silent_p.R565R|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Silent_p.R565R|NFATC1_uc002lne.2_Silent_p.R93R|NFATC1_uc010xfh.1_Silent_p.R565R|NFATC1_uc010xfi.1_Silent_p.R552R|NFATC1_uc010xfj.1_Silent_p.R93R|NFATC1_uc002lnf.2_Silent_p.R552R|NFATC1_uc002lng.2_Silent_p.R552R|NFATC1_uc010xfk.1_Silent_p.R552R	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	565	RHD.				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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGGTGTTCCGCGTTCACGTCC	0.607													T	77211059	C	T	77211059	2	4	191	1	0	0	0	0	0	0	0	1	10361	755	27	1		1	NFATC1	18	77211059	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	4211813	77211059	866189	1750	104770											
C19orf21	126353	broad.mit.edu	37	chr19	758615	758615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggagagtgtcctgcgcCgggagcaagaggtggcagag	20	7	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:758615C>T	uc002lpo.2	+	2	1752	c.1669C>T	c.(1669-1671)CGG>TGG	p.R557W		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	557	Potential.									upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|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)		TGTCCTGCGCCGGGAGCAAGA	0.612													T	758615	C	T	758615	3	4	191	1	0	0	0	0	1	0	0	0	1913	643	23	1	1671	1	C19orf21	19	758615	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08		758615	58370368	1751	104771											
LPPR3	79948	broad.mit.edu	37	chr19	815844	815844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacgatggaagaagccactAtgggcagctgtggggacaag	15	7	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:815844A>G	uc002lpx.1	-	3	147	c.83T>C	c.(82-84)ATA>ACA	p.I28T	LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.I28T|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	28	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity				0						AGAAGCCACTATGGGCAGCTG	0.552													G	815844	A	G	815844	3	3	191	1	0	0	0	0	1	0	0	0	8926	449	16	3	2177	3	LPPR3	19	815844	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	57229	815844	58313139	1752	104772											
MED16	10025	broad.mit.edu	37	chr19	877065	877065	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacgtgcagcaggatgTcccaccagtcgtagccggtc	13	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:877065T>G	uc002lqd.1	-	9	1620	c.1469A>C	c.(1468-1470)GAC>GCC	p.D490A	MED16_uc010drw.1_Missense_Mutation_p.D315A|MED16_uc002lqe.2_Missense_Mutation_p.D479A|MED16_uc002lqf.2_Missense_Mutation_p.D479A|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.D335A|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	490					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				0		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)		CAGCAGGATGTCCCACCAGTC	0.662													G	877065	T	G	877065	3	3	191	1	0	0	0	0	1	0	0	0	9434	1667	58	5	1196	5	MED16	19	877065	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	61221	877065	58251918	1753	104773											
HMHA1	23526	broad.mit.edu	37	chr19	1085856	1085856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccgggaggacggggacGgggacgaggacggcccggcc	21	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1085856G>A	uc002lqz.1	+	23	3493	c.3262G>A	c.(3262-3264)GGG>AGG	p.G1088R	HMHA1_uc010xgd.1_Missense_Mutation_p.G1104R|HMHA1_uc010xge.1_Missense_Mutation_p.G956R|HMHA1_uc002lra.1_Missense_Mutation_p.G928R|HMHA1_uc002lrb.1_Missense_Mutation_p.G971R|HMHA1_uc002lrc.1_Missense_Mutation_p.G723R|HMHA1_uc002lrd.1_Missense_Mutation_p.G164R|HMHA1_uc010dsd.1_Missense_Mutation_p.G194R	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	1088					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		GGACGGGGACGGGGACGAGGA	0.692													A	1085856	G	A	1085856	3	1	191	1	0	0	0	0	1	0	0	0	7240	1116	39	1	3352	1	HMHA1	19	1085856	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	208791	1085856	58043127	1754	104774											
DAZAP1	26528	broad.mit.edu	37	chr19	1428934	1428934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccgggttgtgcccaacGctgccaatggctgggcaggc	17	12	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1428934G>A	uc002lsn.2	+	8	829	c.640G>A	c.(640-642)GCT>ACT	p.A214T	DAZAP1_uc002lsm.2_Missense_Mutation_p.A214T|DAZAP1_uc002lso.2_Missense_Mutation_p.A213T|DAZAP1_uc002lsl.1_Missense_Mutation_p.A214T	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	214					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		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)		TGTGCCCAACGCTGCCAATGG	0.647													A	1428934	G	A	1428934	3	1	191	1	0	0	0	0	1	0	0	0	4244	1087	38	1	670	1	DAZAP1	19	1428934	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	343078	1428934	57700049	1755	104775											
APC2	10297	broad.mit.edu	37	chr19	1466376	1466376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatctctccaggggccCggaagcaggcctggctgccg	15	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1466376C>T	uc002lsr.1	+	15	3284	c.3076C>T	c.(3076-3078)CGG>TGG	p.R1026W	APC2_uc002lss.1_Missense_Mutation_p.R608W|APC2_uc002lst.1_Missense_Mutation_p.R1026W|APC2_uc002lsu.1_Missense_Mutation_p.R1025W|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1026					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)|pancreas(1)	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)		TCCAGGGGCCCGGAAGCAGGC	0.667													T	1466376	C	T	1466376	3	4	191	1	0	0	0	0	1	0	0	0	764	643	23	1	3130	1	APC2	19	1466376	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	37442	1466376	57662607	1756	104776											
REXO1	57455	broad.mit.edu	37	chr19	1825905	1825905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaacagagtggtcagacccGaaagccccttctcctcactc	9	15	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1825905G>A	uc002lua.3	-	3	2044	c.1949C>T	c.(1948-1950)TCG>TTG	p.S650L		NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	650						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		GGTCAGACCCGAAAGCCCCTT	0.612													A	1825905	G	A	1825905	3	1	191	1	0	0	0	0	1	0	0	0	13241	1059	37	1	1772	1	REXO1	19	1825905	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	359529	1825905	57303078	1757	104777											
TMPRSS9	360200	broad.mit.edu	37	chr19	2422029	2422029	+	Frame_Shift_Del	DEL	C	C	-													cccagccccttcccatgtctCccccctcgaccacaaggatg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:2422028_2422028TC>T	uc010xgx.2	+	12	2229	c.2229_2229TC>T	c.(2227-2229)tctfs	p.S743fs		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	743					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)		TTCCCATGTCTCCCCCCTCGA	0.657													-	2422029	C	-	2422029	7	5	191	1	0	1	0	1	0	0	0	0	16250	855	30	0	2280	0	TMPRSS9	19	2422029	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	596124	2422029	56706954	1758	104778											
ZNF57	126295	broad.mit.edu	37	chr19	2917163	2917163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgcatttgtccctcaCacctacacagtcacggaaga	8	14	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:2917163C>T	uc002lwr.2	+	4	692	c.544C>T	c.(544-546)CAC>TAC	p.H182Y	ZNF57_uc010xha.1_Missense_Mutation_p.H150Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)		TTGTCCCTCACACCTACACAG	0.498													T	2917163	C	T	2917163	3	4	191	1	0	0	0	0	1	0	0	0	17998	478	17	4	558	4	ZNF57	19	2917163	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	495134	2917163	56211820	1759	104779											
TLE6	79816	broad.mit.edu	37	chr19	2987969	2987969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacacaagttggggtgtggtCcaggtgagacccaggcccga	15	10	0	1	rs141862660	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:2987969C>T	uc002lwu.2	+	9	730	c.330C>T	c.(328-330)GTC>GTT	p.V110V	TLE6_uc002lwt.2_Silent_p.V233V|TLE6_uc010dtg.2_Silent_p.V233V|TLE6_uc002lwv.2_5'UTR	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	110					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		GGGGTGTGGTCCAGGTGAGAC	0.667													T	2987969	C	T	2987969	2	4	191	1	0	0	0	0	0	0	0	1	15939	842	30	4		4	TLE6	19	2987969	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	70806	2987969	56141014	1760	104780											
GNA11	2767	broad.mit.edu	37	chr19	3119270	3119270	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccctggttccagaactccTccgtcatcctcttcctcaac	4	19	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3119270T>G	uc002lxd.2	+	6	1044	c.802T>G	c.(802-804)TCC>GCC	p.S268A	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	268					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			eye(70)|skin(16)	86		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)		CCAGAACTCCTCCGTCATCCT	0.597			Mis		uveal melanoma								G	3119270	T	G	3119270	3	3	191	1	0	0	0	0	1	0	0	0	6499	1551	54	5	824	5	GNA11	19	3119270	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	131301	3119270	56009713	1761	104781											
GIPC3	126326	broad.mit.edu	37	chr19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-													agaccctgcggcttcgttctGggggggctgccacagtggag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3589526_3589526TG>T	uc002lyd.4	+	3	705	c.678_678TG>T	c.(676-678)tctfs	p.S226fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	226								p.S226F(1)		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)		GGCTTCGTTCTGGGGGGGCTG	0.612													-	3589527	G	-	3589527	7	5	191	1	0	1	0	1	0	0	0	0	6394	1348	47	0	693	0	GIPC3	19	3589527	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	470257	3589527	55539456	1762	104782											
TBXA2R	6915	broad.mit.edu	37	chr19	3600476	3600476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgcgaacccccctgccGcgcgcccgccagcacgctca	11	21	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3600476G>A	uc002lyg.1	-	2	371	c.157C>T	c.(157-159)CGG>TGG	p.R53W	TBXA2R_uc002lye.1_Missense_Mutation_p.R53W	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	53	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CCCCCCTGCCGCGCGCCCGCC	0.701													A	3600476	G	A	3600476	3	1	191	1	0	0	0	0	1	0	0	0	15660	1086	38	1	1127	1	TBXA2R	19	3600476	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	10949	3600476	55528507	1763	104783											
APBA3	9546	broad.mit.edu	37	chr19	3760158	3760158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatagggtcccactgGctgtcaggggtgaggtcctc	15	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3760158G>A	uc002lyp.1	-	2	282	c.105C>T	c.(103-105)AGC>AGT	p.S35S	MRPL54_uc002lyq.3_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	35					intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		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)		GGTCCCACTGGCTGTCAGGGG	0.612													A	3760158	G	A	3760158	2	1	191	1	0	0	0	0	0	0	0	1	758	1194	42	2		2	APBA3	19	3760158	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	159682	3760158	55368825	1764	104784											
TMIGD2	126259	broad.mit.edu	37	chr19	4298064	4298064	+	Frame_Shift_Del	DEL	C	C	-													ggccgcccagcacacgtacgCcccgctgtggttgaggctca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:4298063_4298063GC>G	uc002lzx.2	-	1	372	c.326_326GC>C	c.(325-327)gcgfs	p.A109fs	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Frame_Shift_Del_p.A109fs	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	109	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACACGTACGCCCCGCTGTG	0.662													-	4298064	C	-	4298064	7	5	191	1	0	1	0	1	0	0	0	0	16228	739	26	0	539	0	TMIGD2	19	4298064	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	537906	4298064	54830919	1765	104785											
PLIN4	729359	broad.mit.edu	37	chr19	4512549	4512549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggccacattcgcagcacCggtgaccccactgcagacag	10	15	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:4512549C>T	uc002mar.1	-	3	1381	c.1381G>A	c.(1381-1383)GGT>AGT	p.G461S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	461	27 X 33 AA approximate tandem repeat.|12.					lipid particle|plasma membrane					0						TTCGCAGCACCGGTGACCCCA	0.577													T	4512549	C	T	4512549	3	4	191	1	0	0	0	0	1	0	0	0	12092	652	23	1	2708	1	PLIN4	19	4512549	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	214485	4512549	54616434	1766	104786											
PLIN5	440503	broad.mit.edu	37	chr19	4523795	4523795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgctccacaaggatgggCgcgaagggtcccaccagcca	14	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:4523795C>T	uc002mas.2	-	8	1190	c.1137G>A	c.(1135-1137)GCG>GCA	p.A379A		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	379						lipid particle					0						CAAGGATGGGCGCGAAGGGTC	0.751													T	4523795	C	T	4523795	2	4	191	1	0	0	0	0	0	0	0	1	12093	755	27	1		1	PLIN5	19	4523795	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	11246	4523795	54605188	1767	104787											
PTPRS	5802	broad.mit.edu	37	chr19	5212474	5212474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgccgtaaactggaactggCggacctcgcgtttctcactg	11	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:5212474C>A	uc002mbv.2	-	31	4877	c.4643G>T	c.(4642-4644)CGC>CTC	p.R1548L	PTPRS_uc002mbu.1_Missense_Mutation_p.R1117L|PTPRS_uc010xin.1_Missense_Mutation_p.R1090L|PTPRS_uc002mbw.2_Missense_Mutation_p.R1510L|PTPRS_uc002mbx.2_Missense_Mutation_p.R1105L|PTPRS_uc002mby.2_Missense_Mutation_p.R1101L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1548	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGGAACTGGCGGACCTCGCG	0.488													A	5212474	C	A	5212474	3	1	191	1	0	0	0	0	1	0	0	0	12811	768	27	5	1235	5	PTPRS	19	5212474	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	688679	5212474	53916509	1768	104788											
PTPRS	5802	broad.mit.edu	37	chr19	5244133	5244133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccgttgggctccaccGgctcctcccactgcacaatc	9	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:5244133G>A	uc002mbv.2	-	11	1583	c.1349C>T	c.(1348-1350)CCG>CTG	p.P450L	PTPRS_uc002mbu.1_Missense_Mutation_p.P437L|PTPRS_uc010xin.1_Missense_Mutation_p.P437L|PTPRS_uc002mbw.2_Missense_Mutation_p.P437L|PTPRS_uc002mbx.2_Missense_Mutation_p.P441L|PTPRS_uc002mby.2_Missense_Mutation_p.P437L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	450	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGCTCCACCGGCTCCTCCCA	0.682													A	5244133	G	A	5244133	3	1	191	1	0	0	0	0	1	0	0	0	12811	1116	39	1	4609	1	PTPRS	19	5244133	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	31659	5244133	53884850	1769	104789											
SAFB2	9667	broad.mit.edu	37	chr19	5592763	5592763	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaagaccactgacctgtcGatggcgtggtcctggtactg	13	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:5592763G>A	uc002mcd.2	-	16	2555	c.2343C>T	c.(2341-2343)ATC>ATT	p.I781I		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	781	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGACCTGTCGATGGCGTGGT	0.597													A	5592763	G	A	5592763	2	1	191	1	0	0	0	0	0	0	0	1	13807	1048	37	1		1	SAFB2	19	5592763	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	348630	5592763	53536220	1770	104790											
RFX2	5990	broad.mit.edu	37	chr19	6002852	6002852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacgtgtagcgccgcagCgtctgggcgaaggcactgac	17	11	1	1	rs144909436		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6002852C>T	uc002meb.2	-	14	1799	c.1530G>A	c.(1528-1530)ACG>ACA	p.T510T	RFX2_uc002mec.2_Silent_p.T485T	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						AGCGCCGCAGCGTCTGGGCGA	0.677													T	6002852	C	T	6002852	2	4	191	1	0	0	0	0	0	0	0	1	13263	755	27	1		1	RFX2	19	6002852	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	410089	6002852	53126131	1771	104791											
RFX2	5990	broad.mit.edu	37	chr19	6016119	6016119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgcccagccgccgcGttctcagccccataaacaca	8	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6016119G>A	uc002meb.2	-	7	1030	c.761C>T	c.(760-762)ACG>ATG	p.T254M	RFX2_uc002mec.2_Missense_Mutation_p.T229M	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	254	RFX-type winged-helix.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CAGCCGCCGCGTTCTCAGCCC	0.567													A	6016119	G	A	6016119	3	1	191	1	0	0	0	0	1	0	0	0	13263	1145	40	1	1458	1	RFX2	19	6016119	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	13267	6016119	53112864	1772	104792											
DENND1C	79958	broad.mit.edu	37	chr19	6470356	6470356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttggccttgactgagtGcaggagggcgccaccacctt	14	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6470356G>A	uc002mfe.2	-	18	1404	c.1312C>T	c.(1312-1314)CAC>TAC	p.H438Y	DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.H394Y	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	438						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						TTGACTGAGTGCAGGAGGGCG	0.413													A	6470356	G	A	6470356	3	1	191	1	0	0	0	0	1	0	0	0	4428	1319	46	2	1117	2	DENND1C	19	6470356	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	454237	6470356	52658627	1773	104793											
TRIP10	9322	broad.mit.edu	37	chr19	6743586	6743586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctagaccaggatatcaacGccaccaaggctgatgtggag	13	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6743586G>A	uc002mfs.2	+	6	556	c.490G>A	c.(490-492)GCC>ACC	p.A164T	TRIP10_uc010dux.1_Missense_Mutation_p.A164T|TRIP10_uc002mfr.2_Missense_Mutation_p.A164T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	164	Potential.|Induction of membrane tubulation.				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			ovary(1)	1						GGATATCAACGCCACCAAGGC	0.622													A	6743586	G	A	6743586	3	1	191	1	0	0	0	0	1	0	0	0	16551	1087	38	1	512	1	TRIP10	19	6743586	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	273230	6743586	52385397	1774	104794											
SH2D3A	10045	broad.mit.edu	37	chr19	6752655	6752655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccgaggacgcgctggaaCttctcaaagcgttcagcgcg	13	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6752655C>T	uc002mft.2	-	10	1874	c.1680G>A	c.(1678-1680)AAG>AAA	p.K560K	SH2D3A_uc010xjg.1_Silent_p.K467K	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	560					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						CGCGCTGGAACTTCTCAAAGC	0.682													T	6752655	C	T	6752655	2	4	191	1	0	0	0	0	0	0	0	1	14233	564	20	4		4	SH2D3A	19	6752655	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	9069	6752655	52376328	1775	104795											
SH2D3A	10045	broad.mit.edu	37	chr19	6754965	6754965	+	Frame_Shift_Del	DEL	G	G	-													tgggggcccagcaggcaggaGggggcatcatgggggcagaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6754964_6754964AG>A	uc002mft.3	-	4	1053	c.859_859CT>T	c.(859-861)tccfs	p.S287fs	SH2D3A_uc010xjg.2_Frame_Shift_Del_p.S165fs	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	287					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGCAGGCAGGAGGGGGCATCA	0.612													-	6754965	G	-	6754965	7	5	191	1	0	1	0	1	0	0	0	0	14233	987	35	0	896	0	SH2D3A	19	6754965	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2310	6754965	52374018	1776	104796											
C19orf45	374877	broad.mit.edu	37	chr19	7573246	7573246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcacgcctcaccagcGcggctgcagggagaagatag	15	13	1	2	rs147092817		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:7573246G>A	uc002mgm.2	+	9	1589	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	483											0						CCTCACCAGCGCGGCTGCAGG	0.577													A	7573246	G	A	7573246	3	1	191	1	0	0	0	0	1	0	0	0	1928	1087	38	1	1478	1	C19orf45	19	7573246	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	818281	7573246	51555737	1777	104797											
XAB2	56949	broad.mit.edu	37	chr19	7687494	7687494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacacgcggttctgcacGggctctgaaccatcaaagta	10	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:7687494G>A	uc002mgx.2	-	11	1451	c.1425C>T	c.(1423-1425)CCC>CCT	p.P475P		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	475					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GGTTCTGCACGGGCTCTGAAC	0.672								Direct_reversal_of_damage|NER					A	7687494	G	A	7687494	2	1	191	1	0	0	0	0	0	0	0	1	17415	1103	39	1		1	XAB2	19	7687494	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	114248	7687494	51441489	1778	104798											
CTXN1	404217	broad.mit.edu	37	chr19	7990265	7990265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggctgtaggggtcgagCaggatgcgcacgcagcgcac	17	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:7990265C>T	uc002miy.3	-	2	379	c.159G>A	c.(157-159)CTG>CTA	p.L53L		NM_206833	NP_996664	P60606	CTXN1_HUMAN	cortexin 1	53						integral to membrane				ovary(1)	1						AGGGGTCGAGCAGGATGCGCA	0.701													T	7990265	C	T	7990265	2	4	191	1	0	0	0	0	0	0	0	1	4049	697	25	2		2	CTXN1	19	7990265	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	302771	7990265	51138718	1779	104799											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651120	8651120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttgcggcactccaccGcctgcacctggctacctgga	12	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:8651120G>A	uc002mkj.1	-	22	2820	c.2546C>T	c.(2545-2547)GCG>GTG	p.A849V	ADAMTS10_uc002mki.1_Missense_Mutation_p.A336V|ADAMTS10_uc002mkk.1_Missense_Mutation_p.A481V	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	849	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GCACTCCACCGCCTGCACCTG	0.687											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	8651120	G	A	8651120	3	1	191	1	0	0	0	0	1	0	0	0	256	1087	38	1	785	1	ADAMTS10	19	8651120	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	660855	8651120	50477863	1780	104800											
MUC16	94025	broad.mit.edu	37	chr19	9072974	9072974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtttatggaaggatgCgttgtctctatatctgtggt	12	5	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:9072974C>T	uc002mkp.2	-	3	14676	c.14472G>A	c.(14470-14472)ACG>ACA	p.T4824T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4826	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGAAGGATGCGTTGTCTCTA	0.443													T	9072974	C	T	9072974	2	4	191	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	9072974	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	421854	9072974	50056009	1781	104801											
ZNF562	54811	broad.mit.edu	37	chr19	9764462	9764462	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaaagtgttccctccAttctgagctctcatgtgtgt	7	13	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:9764462A>G	uc010xks.1	-	6	607	c.444T>C	c.(442-444)AAT>AAC	p.N148N	ZNF562_uc002mly.2_Silent_p.N148N|ZNF562_uc002mlx.2_Silent_p.N76N|ZNF562_uc010xkt.1_Silent_p.N111N|ZNF562_uc010xku.1_Silent_p.N79N|ZNF562_uc010xkv.1_Silent_p.N147N|ZNF562_uc010xkw.1_Silent_p.N32N	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTTCCCTCCATTCTGAGCTC	0.423													G	9764462	A	G	9764462	2	3	191	1	0	0	0	0	0	0	0	1	17990	214	8	3		3	ZNF562	19	9764462	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	691488	9764462	49364521	1782	104802											
ICAM5	7087	broad.mit.edu	37	chr19	10404792	10404792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcgcctgttttcctgTgaggtcgatgggaagccaca	14	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:10404792T>C	uc002mnu.3	+	8	1853	c.1788T>C	c.(1786-1788)TGT>TGC	p.C596C	ICAM5_uc002mnv.3_Silent_p.C471C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	596	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGTTTTCCTGTGAGGTCGATG	0.647													C	10404792	T	C	10404792	2	2	191	1	0	0	0	0	0	0	0	1	7483	1702	59	3		3	ICAM5	19	10404792	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	640330	10404792	48724191	1783	104803											
PDE4A	5141	broad.mit.edu	37	chr19	10570296	10570296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctgctgaagaaattccGcatccctgtggacacgatgg	12	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:10570296G>A	uc002moj.2	+	10	1334	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	PDE4A_uc002mok.2_Missense_Mutation_p.R383H|PDE4A_uc002mol.2_Missense_Mutation_p.R348H|PDE4A_uc002mom.2_Missense_Mutation_p.R170H|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_Missense_Mutation_p.R75H	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	409	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			ovary(1)|breast(1)|central_nervous_system(1)	3			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)	AAGAAATTCCGCATCCCTGTG	0.642													A	10570296	G	A	10570296	3	1	191	1	0	0	0	0	1	0	0	0	11639	1087	38	1	1721	1	PDE4A	19	10570296	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	165504	10570296	48558687	1784	104804											
DNM2	1785	broad.mit.edu	37	chr19	10908090	10908090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccgacatggcctttgaaGccattgtgaaaaaacagatt	8	11	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:10908090G>T	uc002mps.1	+	10	1395	c.1231G>T	c.(1231-1233)GCC>TCC	p.A411S	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Missense_Mutation_p.A411S|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Missense_Mutation_p.A144S	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	411					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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCCTTTGAAGCCATTGTGAA	0.537													T	10908090	G	T	10908090	3	4	191	1	0	0	0	0	1	0	0	0	4672	971	34	5	1412	5	DNM2	19	10908090	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	337794	10908090	48220893	1785	104805											
LDLR	3949	broad.mit.edu	37	chr19	11213416	11213416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctcagttctggaggtgCgatggccaagtggactgcga	14	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:11213416C>T	uc002mqk.3	+	3	435	c.267C>T	c.(265-267)TGC>TGT	p.C89C	LDLR_uc010xlk.1_Silent_p.C89C|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Silent_p.C89C|LDLR_uc010xlo.1_Silent_p.C89C	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	89	Extracellular (Potential).|LDL-receptor class A 2.		C -> Y (in FH).		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			ovary(2)|skin(2)	4		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)	TCTGGAGGTGCGATGGCCAAG	0.567													T	11213416	C	T	11213416	2	4	191	1	0	0	0	0	0	0	0	1	8704	776	27	1		1	LDLR	19	11213416	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	305326	11213416	47915567	1786	104806											
RAB3D	9545	broad.mit.edu	37	chr19	11446182	11446182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacacgttcgtcctccaggTcacacttgttccccaccagg	7	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:11446182T>G	uc002mqy.2	-	4	651	c.413A>C	c.(412-414)GAC>GCC	p.D138A		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	138	GTP.				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						GTCCTCCAGGTCACACTTGTT	0.627													G	11446182	T	G	11446182	3	3	191	1	0	0	0	0	1	0	0	0	12934	1667	58	5	254	5	RAB3D	19	11446182	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	232766	11446182	47682801	1787	104807											
PRKCSH	5589	broad.mit.edu	37	chr19	11559934	11559934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaccacgacaagttcagtGccatgaagtatgagcaaggc	11	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:11559934G>A	uc002mrt.2	+	16	1720	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T	PRKCSH_uc002mru.2_Missense_Mutation_p.A459T|PRKCSH_uc010xlz.1_Missense_Mutation_p.A469T|PRKCSH_uc010dya.2_Missense_Mutation_p.A244T|PRKCSH_uc010dyb.2_Missense_Mutation_p.A459T	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	462	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CAAGTTCAGTGCCATGAAGTA	0.677													A	11559934	G	A	11559934	3	1	191	1	0	0	0	0	1	0	0	0	12516	1319	46	2	1463	2	PRKCSH	19	11559934	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	113752	11559934	47569049	1788	104808											
ZNF625	90589	broad.mit.edu	37	chr19	12256589	12256589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcatatggtttctctccAgtgtgagttcgtttgtggat	10	7	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12256589A>G	uc002mth.2	-	4	794	c.444T>C	c.(442-444)ACT>ACC	p.T148T	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.T182T	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTCTCTCCAGTGTGAGTTC	0.413													G	12256589	A	G	12256589	2	3	191	1	0	0	0	0	0	0	0	1	18046	175	7	3		3	ZNF625	19	12256589	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	696655	12256589	46872394	1789	104809											
ZNF799	90576	broad.mit.edu	37	chr19	12501871	12501871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatttgcatttatagggTttctctccagtatgagttgt	8	8	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12501871T>G	uc010dyt.2	-	4	1491	c.1341A>C	c.(1339-1341)AAA>AAC	p.K447N	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						ATTTATAGGGTTTCTCTCCAG	0.388													G	12501871	T	G	12501871	3	3	191	1	0	0	0	0	1	0	0	0	18163	1722	60	5	594	5	ZNF799	19	12501871	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	245282	12501871	46627112	1790	104810											
ZNF791	163049	broad.mit.edu	37	chr19	12739381	12739381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccagcctttcgagtacaCgtgagagtgcatactggaga	12	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12739381C>T	uc002mua.2	+	4	1200	c.1038C>T	c.(1036-1038)CAC>CAT	p.H346H	ZNF791_uc010xml.1_Silent_p.H314H|ZNF791_uc010dyu.1_Silent_p.H237H|ZNF791_uc010xmm.1_Silent_p.H237H	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	346	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTCGAGTACACGTGAGAGTGC	0.408													T	12739381	C	T	12739381	2	4	191	1	0	0	0	0	0	0	0	1	18160	535	19	1		1	ZNF791	19	12739381	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	237510	12739381	46389602	1791	104811											
MAN2B1	4125	broad.mit.edu	37	chr19	12766586	12766586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctggggcttccagcgAggcacctgggctactgaata	15	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12766586A>G	uc002mub.2	-	14	1828	c.1752T>C	c.(1750-1752)CCT>CCC	p.P584P	MAN2B1_uc010dyv.1_Silent_p.P583P	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	584					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GCTTCCAGCGAGGCACCTGGG	0.612													G	12766586	A	G	12766586	2	3	191	1	0	0	0	0	0	0	0	1	9216	291	11	3		3	MAN2B1	19	12766586	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	27205	12766586	46362397	1792	104812											
DHPS	1725	broad.mit.edu	37	chr19	12791075	12791075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctggtaagtgggcggCggctctgggtcaggtccgcg	19	10	2	0	rs145815031		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12791075C>T	uc002muh.1	-	2	369	c.272G>A	c.(271-273)CGC>CAC	p.R91H	DHPS_uc002muf.1_5'UTR|DHPS_uc002mug.1_Missense_Mutation_p.R49H|DHPS_uc002mui.1_Missense_Mutation_p.R91H|DHPS_uc002muj.1_Missense_Mutation_p.R91H|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	91					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	AAGTGGGCGGCGGCTCTGGGT	0.542													T	12791075	C	T	12791075	3	4	191	1	0	0	0	0	1	0	0	0	4485	768	27	1	869	1	DHPS	19	12791075	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	24489	12791075	46337908	1793	104813											
FBXW9	84261	broad.mit.edu	37	chr19	12800036	12800036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcccacctgctcaggcCtgcagcctccagacctctag	8	20	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12800036C>T	uc010dyx.2	-	10	1431	c.1431G>A	c.(1429-1431)CAG>CAA	p.Q477Q	FBXW9_uc010xmp.1_RNA|uc002mul.1_Silent_p.A98A|FBXW9_uc002mum.1_Silent_p.Q457Q|FBXW9_uc002mun.1_Silent_p.Q294Q	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	487	WD 7.						protein binding			ovary(1)	1						CTGCTCAGGCCTGCAGCCTCC	0.647													T	12800036	C	T	12800036	2	4	191	1	0	0	0	0	0	0	0	1	5771	680	24	4		4	FBXW9	19	12800036	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8961	12800036	46328947	1794	104814											
GCDH	2639	broad.mit.edu	37	chr19	13008601	13008601	+	Frame_Shift_Del	DEL	G	G	-													cgccaggcccgagacatgctGggggggaatgggatttctga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13008600_13008600TG>T	uc002mvq.3	+	10	1243	c.1166_1166TG>T	c.(1165-1167)ctgfs	p.L389fs	GCDH_uc002mvp.3_Frame_Shift_Del_p.L389fs|GCDH_uc010xmt.2_Frame_Shift_Del_p.L223fs|GCDH_uc010xmu.2_Frame_Shift_Del_p.L345fs	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.M388I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAAT	0.602													-	13008601	G	-	13008601	7	5	191	1	0	1	0	1	0	0	0	0	6287	1335	47	0	1205	0	GCDH	19	13008601	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	208565	13008601	46120382	1795	104815											
NFIX	4784	broad.mit.edu	37	chr19	13184812	13184812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtgaccctggggcggCggtccatcacctcccctcct	11	18	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13184812C>T	uc010xmx.1	+	5	867	c.814C>T	c.(814-816)CGG>TGG	p.R272W	NFIX_uc002mwd.2_Missense_Mutation_p.R264W|NFIX_uc002mwe.2_Missense_Mutation_p.R256W|NFIX_uc002mwf.2_Missense_Mutation_p.R267W|NFIX_uc002mwg.1_Missense_Mutation_p.R263W			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	264					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			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCTGGGGCGGCGGTCCATCAC	0.627													T	13184812	C	T	13184812	3	4	191	1	0	0	0	0	1	0	0	0	10374	759	27	1	808	1	NFIX	19	13184812	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	176211	13184812	45944171	1796	104816											
CACNA1A	773	broad.mit.edu	37	chr19	13323306	13323306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggtcacccaggacggGctctccttgaggccgctttc	13	15	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13323306G>A	uc010dze.2	-	42	6320	c.6084C>T	c.(6082-6084)AGC>AGT	p.S2028S	CACNA1A_uc010xnd.1_Silent_p.S733S|CACNA1A_uc002mwx.3_Silent_p.S733S|CACNA1A_uc010dzc.2_Silent_p.S1553S|CACNA1A_uc002mwy.3_Silent_p.S2027S|CACNA1A_uc002mwv.3_Silent_p.S544S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	2028	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCAGGACGGGCTCTCCTTGA	0.652													A	13323306	G	A	13323306	2	1	191	1	0	0	0	0	0	0	0	1	2538	1194	42	2		2	CACNA1A	19	13323306	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	138494	13323306	45805677	1797	104817											
CACNA1A	773	broad.mit.edu	37	chr19	13414687	13414687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacctcgttccagtcttcGcccgtcaggatctgaaaggg	11	12	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13414687G>A	uc010dze.2	-	16	2237	c.2001C>T	c.(1999-2001)GGC>GGT	p.G667G	CACNA1A_uc010dzc.2_Silent_p.G192G|CACNA1A_uc002mwy.3_Silent_p.G666G|CACNA1A_uc010xne.1_Silent_p.G192G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	667	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGTCTTCGCCCGTCAGGA	0.592													A	13414687	G	A	13414687	2	1	191	1	0	0	0	0	0	0	0	1	2538	1074	38	1		1	CACNA1A	19	13414687	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	91381	13414687	45714296	1798	104818											
CACNA1A	773	broad.mit.edu	37	chr19	13470495	13470495	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcaaacaggatgttgtcGaactgagtgatcccgttgtt	11	8	0	2	rs17846910		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13470495G>A	uc010dze.2	-	6	1139	c.903C>T	c.(901-903)TTC>TTT	p.F301F	CACNA1A_uc002mwy.3_Silent_p.F301F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	301	I.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGATGTTGTCGAACTGAGTGA	0.552													A	13470495	G	A	13470495	2	1	191	1	0	0	0	0	0	0	0	1	2538	1049	37	1		1	CACNA1A	19	13470495	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	55808	13470495	45658488	1799	104819											
ZSWIM4	65249	broad.mit.edu	37	chr19	13939479	13939479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgcggatgactctgaaCgtaatgacctggcggcggag	16	8	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13939479C>T	uc002mxh.1	+	12	2238	c.2049C>T	c.(2047-2049)AAC>AAT	p.N683N	ZSWIM4_uc010xng.1_Silent_p.N606N	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	683							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGACTCTGAACGTAATGACCT	0.622													T	13939479	C	T	13939479	2	4	191	1	0	0	0	0	0	0	0	1	18240	535	19	1		1	ZSWIM4	19	13939479	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	468984	13939479	45189504	1800	104820											
C19orf57	79173	broad.mit.edu	37	chr19	14000060	14000060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtatctggctgtccaGcaggaagtcgagttccacag	11	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14000060G>A	uc002mxl.1	-	6	1668	c.1609C>T	c.(1609-1611)CTG>TTG	p.L537L	C19orf57_uc002mxk.1_Silent_p.L419L|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	537					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGGCTGTCCAGCAGGAAGTCG	0.607													A	14000060	G	A	14000060	2	1	191	1	0	0	0	0	0	0	0	1	1939	962	34	2		2	C19orf57	19	14000060	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	60581	14000060	45128923	1801	104821											
LPHN1	22859	broad.mit.edu	37	chr19	14288438	14288438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgtcgtccgtgcgcccGtagttggcattctccaccat	9	14	2	0	rs148289324		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14288438G>A	uc010xnn.1	-	3	485	c.189C>T	c.(187-189)TAC>TAT	p.Y63Y	LPHN1_uc010xno.1_Silent_p.Y63Y	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	63	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CCGTGCGCCCGTAGTTGGCAT	0.607													A	14288438	G	A	14288438	2	1	191	1	0	0	0	0	0	0	0	1	8915	1140	40	1		1	LPHN1	19	14288438	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	288378	14288438	44840545	1802	104822											
EMR3	84658	broad.mit.edu	37	chr19	14772911	14772911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatatacactatagggTggtgtacattcattaatgtc	7	8	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14772911T>C	uc002mzi.3	-	4	367	c.219A>G	c.(217-219)CCA>CCG	p.P73P	EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	73	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						CACTATAGGGTGGTGTACATT	0.294													C	14772911	T	C	14772911	2	2	191	1	0	0	0	0	0	0	0	1	5106	1683	59	3		3	EMR3	19	14772911	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	484473	14772911	44356072	1803	104823											
OR7A17	26333	broad.mit.edu	37	chr19	14991937	14991937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgagcatctttgggatTgtagtggagatgaaacagat	12	3	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14991937T>C	uc010xob.1	-	1	231	c.231A>G	c.(229-231)ACA>ACG	p.T77T		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	77	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					TCTTTGGGATTGTAGTGGAGA	0.478													C	14991937	T	C	14991937	2	2	191	1	0	0	0	0	0	0	0	1	11215	1799	63	3		3	OR7A17	19	14991937	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	219026	14991937	44137046	1804	104824											
AKAP8	10270	broad.mit.edu	37	chr19	15483787	15483787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggactgggagaagagggAcggaggtggccggctggggg	23	6	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:15483787A>G	uc002nav.2	-	5	797	c.736T>C	c.(736-738)TCC>CCC	p.S246P	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.S60P	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	246					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GAGAAGAGGGACGGAGGTGGC	0.701													G	15483787	A	G	15483787	3	3	191	1	0	0	0	0	1	0	0	0	457	275	10	3	1382	3	AKAP8	19	15483787	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	491850	15483787	43645196	1805	104825											
OR10H5	284433	broad.mit.edu	37	chr19	15905420	15905420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctctgttgaagttgGcctgtggagatgatgtgctg	14	8	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:15905420G>T	uc010xos.1	+	1	562	c.562G>T	c.(562-564)GCC>TCC	p.A188S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTTGAAGTTGGCCTGTGGAGA	0.567													T	15905420	G	T	15905420	3	4	191	1	0	0	0	0	1	0	0	0	10909	1203	42	5	564	5	OR10H5	19	15905420	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	421633	15905420	43223563	1806	104826											
CYP4F11	57834	broad.mit.edu	37	chr19	16034738	16034738	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgctcctggatgacggcatCtgtgaagtcgtgcaccaggt	13	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:16034738C>T	uc002nbu.2	-	7	838	c.802G>A	c.(802-804)GAT>AAT	p.D268N	CYP4F11_uc010eab.1_Missense_Mutation_p.D268N|CYP4F11_uc002nbt.2_Missense_Mutation_p.D268N	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	268					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						ATGACGGCATCTGTGAAGTCG	0.532													T	16034738	C	T	16034738	3	4	191	1	0	0	0	0	1	0	0	0	4186	913	32	4	800	4	CYP4F11	19	16034738	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	129318	16034738	43094245	1807	104827											
MED26	9441	broad.mit.edu	37	chr19	16686954	16686954	+	Frame_Shift_Del	DEL	C	C	-													tgtgtcctgacacccgttcaCccccggccactggctggcct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:16686953_16686953AC>A	uc002nen.1	-	2	1949	c.1688_1688GT>T	c.(1687-1689)gtgfs	p.V563fs	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	563					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						ACACCCGTTCACCCCCGGCCA	0.622													-	16686954	C	-	16686954	7	5	191	1	0	1	0	1	0	0	0	0	9444	507	18	0	119	0	MED26	19	16686954	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	652216	16686954	42442029	1808	104828											
TMEM38A	79041	broad.mit.edu	37	chr19	16791256	16791256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctacaagtgtgtctgCttcctgcctgtgaaactcat	7	12	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:16791256C>T	uc002nes.2	+	3	421	c.330C>T	c.(328-330)TGC>TGT	p.C110C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	110	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						AGTGTGTCTGCTTCCTGCCTG	0.557													T	16791256	C	T	16791256	2	4	191	1	0	0	0	0	0	0	0	1	16156	805	28	2		2	TMEM38A	19	16791256	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	104302	16791256	42337727	1809	104829											
CPAMD8	27151	broad.mit.edu	37	chr19	17014586	17014586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtccaggttggtggaggCcagggagacagtgaggttga	19	5	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:17014586C>T	uc002nfb.2	-	33	4506	c.4474G>A	c.(4474-4476)GCC>ACC	p.A1492T	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1445						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTGGTGGAGGCCAGGGAGACA	0.582													T	17014586	C	T	17014586	3	4	191	1	0	0	0	0	1	0	0	0	3795	739	26	2	1364	2	CPAMD8	19	17014586	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	223330	17014586	42114397	1810	104830											
CPAMD8	27151	broad.mit.edu	37	chr19	17081703	17081703	+	Splice_Site	DEL	G	G	-													caatgtataagccgttacctGggggggtgcctggaaggagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:17081702_17081702TG>T	uc002nfb.3	-	18	2386	c.2354_splice	c.e18+1	p.R785_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	738						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						AGCCGTTACCTGGGGGGGTGC	0.572													-	17081703	G	-	17081703	8	5	191	1	0	1	0	1	0	0	1	0	3795	1335	47	0	3546	0	CPAMD8	19	17081703	Splice_Site	DEL	G	TCGA-CG-5723-01A-11D-1600-08	67117	17081703	42047280	1811	104831											
PLVAP	83483	broad.mit.edu	37	chr19	17476377	17476377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggaggtctgagttctcGcgggccacgcgttcgatatc	14	11	2	1	rs147035073	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:17476377G>A	uc002ngk.1	-	3	947	c.897C>T	c.(895-897)CGC>CGT	p.R299R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	299	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTGAGTTCTCGCGGGCCACGC	0.672													A	17476377	G	A	17476377	2	1	191	1	0	0	0	0	0	0	0	1	12116	1074	38	1		1	PLVAP	19	17476377	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	394674	17476377	41652606	1812	104832											
IL12RB1	3594	broad.mit.edu	37	chr19	18177481	18177481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatgattcttcaccgagaCgtggtgcggtgtcccagctg	13	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18177481C>T	uc002nhw.1	-	12	1418	c.1354G>A	c.(1354-1356)GTC>ATC	p.V452I	IL12RB1_uc010xqb.1_Missense_Mutation_p.V452I|IL12RB1_uc002nhx.1_Missense_Mutation_p.V492I	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	452	Extracellular (Potential).|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			pancreas(1)	1						TTCACCGAGACGTGGTGCGGT	0.483													T	18177481	C	T	18177481	3	4	191	1	0	0	0	0	1	0	0	0	7626	536	19	1	658	1	IL12RB1	19	18177481	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	701104	18177481	40951502	1813	104833											
IL12RB1	3594	broad.mit.edu	37	chr19	18183096	18183096	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgtggagctgtagtcGgtaagtgacctccgtgccag	14	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18183096G>A	uc002nhw.1	-	9	911	c.847C>T	c.(847-849)CGA>TGA	p.R283*	IL12RB1_uc010xqb.1_Nonsense_Mutation_p.R283*|IL12RB1_uc002nhx.1_Nonsense_Mutation_p.R323*|IL12RB1_uc002nhy.2_Nonsense_Mutation_p.R283*	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	283	Extracellular (Potential).|Fibronectin type-III 3.				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			pancreas(1)	1						AGCTGTAGTCGGTAAGTGACC	0.597													A	18183096	G	A	18183096	4	1	191	1	0	0	0	0	0	1	0	0	7626	1124	39	1	1306	1	IL12RB1	19	18183096	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	5615	18183096	40945887	1814	104834											
RAB3A	5864	broad.mit.edu	37	chr19	18313398	18313398	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgatgcccacggtgctgacGaaggcaggcgtgaacgagtc	15	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18313398G>A	uc002nie.2	-	2	322	c.153C>T	c.(151-153)TTC>TTT	p.F51F		NM_002866	NP_002857	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	51	Effector region (By similarity).				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				0						CGGTGCTGACGAAGGCAGGCG	0.562											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18313398	G	A	18313398	2	1	191	1	0	0	0	0	0	0	0	1	12931	1049	37	1		1	RAB3A	19	18313398	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	130302	18313398	40815585	1815	104835											
UPF1	5976	broad.mit.edu	37	chr19	18966799	18966799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggagaagatccaccagaCggggctaaaggtcgtgcgcc	14	11	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18966799C>T	uc002nkg.2	+	12	1918	c.1643C>T	c.(1642-1644)ACG>ATG	p.T548M	UPF1_uc002nkf.2_Missense_Mutation_p.T537M	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	548					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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATCCACCAGACGGGGCTAAAG	0.612													T	18966799	C	T	18966799	3	4	191	1	0	0	0	0	1	0	0	0	17000	536	19	1	1656	1	UPF1	19	18966799	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	653401	18966799	40162184	1816	104836											
SFRS14	10147	broad.mit.edu	37	chr19	19136833	19136833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaaattccagatcccgGccacattctttgcgaaagta	8	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19136833G>A	uc002nkx.2	-	3	470	c.324C>T	c.(322-324)GGC>GGT	p.G108G	SFRS14_uc002nkz.1_Silent_p.G122G|SFRS14_uc002nla.1_Silent_p.G108G|SFRS14_uc002nlb.2_Silent_p.G108G|SFRS14_uc010xqk.1_Missense_Mutation_p.A10V	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	108					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CCAGATCCCGGCCACATTCTT	0.517													A	19136833	G	A	19136833	2	1	191	1	0	0	0	0	0	0	0	1	14170	1190	42	2		2	SFRS14	19	19136833	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	170034	19136833	39992150	1817	104837											
SLC25A42	284439	broad.mit.edu	37	chr19	19217167	19217167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctggacctggtcagagCgcggatggccgtaaccccga	13	16	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19217167C>T	uc002nlf.1	+	6	621	c.470C>T	c.(469-471)GCG>GTG	p.A157V	SLC25A42_uc010xqn.1_Missense_Mutation_p.A209V	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	157	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CTGGTCAGAGCGCGGATGGCC	0.662													T	19217167	C	T	19217167	3	4	191	1	0	0	0	0	1	0	0	0	14507	768	27	1	488	1	SLC25A42	19	19217167	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	80334	19217167	39911816	1818	104838											
NCAN	1463	broad.mit.edu	37	chr19	19329854	19329854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgcagccacggccaagCgcagcccgagatgcccctcg	11	19	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19329854C>T	uc002nlz.2	+	3	303	c.204C>T	c.(202-204)AGC>AGT	p.S68S		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	68	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CACGGCCAAGCGCAGCCCGAG	0.657													T	19329854	C	T	19329854	2	4	191	1	0	0	0	0	0	0	0	1	10204	767	27	1		1	NCAN	19	19329854	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	112687	19329854	39799129	1819	104839											
NCAN	1463	broad.mit.edu	37	chr19	19351447	19351447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacgtggatcggcctgaacGacaggatcgtggagagagat	15	8	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19351447G>A	uc002nlz.2	+	12	3544	c.3445G>A	c.(3445-3447)GAC>AAC	p.D1149N	NCAN_uc002nma.2_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1149	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CGGCCTGAACGACAGGATCGT	0.632													A	19351447	G	A	19351447	3	1	191	1	0	0	0	0	1	0	0	0	10204	1058	37	1	3487	1	NCAN	19	19351447	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	21593	19351447	39777536	1820	104840											
GATAD2A	54815	broad.mit.edu	37	chr19	19576260	19576260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatggagagaggattgTtggcttcagatttaaacact	10	4	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19576260T>C	uc010xqt.1	+	2	418	c.106T>C	c.(106-108)TTG>CTG	p.L36L	GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Silent_p.L55L|GATAD2A_uc010xqw.1_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	36					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GAGAGGATTGTTGGCTTCAGA	0.532													C	19576260	T	C	19576260	2	2	191	1	0	0	0	0	0	0	0	1	6260	1722	60	3		3	GATAD2A	19	19576260	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	224813	19576260	39552723	1821	104841											
GATAD2A	54815	broad.mit.edu	37	chr19	19613299	19613299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgccggcaagggcagcGccacctccaactggaagaag	14	13	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19613299G>A	uc010xqt.1	+	11	2047	c.1735G>A	c.(1735-1737)GCC>ACC	p.A579T	GATAD2A_uc010xqu.1_Missense_Mutation_p.A208T|GATAD2A_uc010xqv.1_Missense_Mutation_p.A599T|GATAD2A_uc010xqw.1_Missense_Mutation_p.A382T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	579					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGGGCAGCGCCACCTCCAA	0.637													A	19613299	G	A	19613299	3	1	191	1	0	0	0	0	1	0	0	0	6260	1087	38	1	1773	1	GATAD2A	19	19613299	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	37039	19613299	39515684	1822	104842											
ZNF714	148206	broad.mit.edu	37	chr19	21300337	21300337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctacaaatgtgaagaatgTgacaaagcttttaaccgatt	7	8	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:21300337T>C	uc002npo.3	+	6	1230	c.870T>C	c.(868-870)TGT>TGC	p.C290C	ZNF714_uc002npl.2_Silent_p.C135C|ZNF714_uc010ecp.1_Silent_p.C241C|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	290	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGAAGAATGTGACAAAGCTT	0.338													C	21300337	T	C	21300337	2	2	191	1	0	0	0	0	0	0	0	1	18115	1702	59	3		3	ZNF714	19	21300337	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1687038	21300337	37828646	1823	104843											
ZNF536	9745	broad.mit.edu	37	chr19	31040042	31040042	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagaggacatggactcCtccaagggggagaacaacga	12	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:31040042C>A	uc002nsu.1	+	4	3654	c.3516C>A	c.(3514-3516)TCC>TCA	p.S1172S	ZNF536_uc010edd.1_Silent_p.S1172S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ACATGGACTCCTCCAAGGGGG	0.537													A	31040042	C	A	31040042	2	1	191	1	0	0	0	0	0	0	0	1	17971	668	24	5		5	ZNF536	19	31040042	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	9739705	31040042	28088941	1824	104844											
TSHZ3	57616	broad.mit.edu	37	chr19	31768425	31768425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccacagcagccttctcCgccaggctgttgctcatctt	10	15	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:31768425C>T	uc002nsy.3	-	2	2339	c.2274G>A	c.(2272-2274)GCG>GCA	p.A758A		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	758					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CAGCCTTCTCCGCCAGGCTGT	0.602													T	31768425	C	T	31768425	2	4	191	1	0	0	0	0	0	0	0	1	16622	639	23	1		1	TSHZ3	19	31768425	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	728383	31768425	27360558	1825	104845											
KIAA0355	9710	broad.mit.edu	37	chr19	34838949	34838949	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagttcttcacagaagggTgagtgctgggtacttcaggg	15	8	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:34838949T>C	uc002nvd.3	+	11	3546	c.2687_splice	c.e11+2	p.G896_splice		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710											ovary(1)	1	Esophageal squamous(110;0.162)					CACAGAAGGGTGAGTGCTGGG	0.637													C	34838949	T	C	34838949	5	2	191	1	0	0	0	0	0	0	1	0	8170	1710	59	3	2727	3	KIAA0355	19	34838949	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3070524	34838949	24290034	1826	104846											
ZNF599	148103	broad.mit.edu	37	chr19	35250008	35250008	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtctttccacattcAttgcattcaaagggtttctc	7	10	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:35250008A>G	uc010edn.1	-	4	2086	c.1698T>C	c.(1696-1698)AAT>AAC	p.N566N	ZNF599_uc010edm.1_Silent_p.N529N	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	566	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	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)			TTCCACATTCATTGCATTCAA	0.403													G	35250008	A	G	35250008	2	3	191	1	0	0	0	0	0	0	0	1	18026	214	8	3		3	ZNF599	19	35250008	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	411059	35250008	23878975	1827	104847											
LSR	51599	broad.mit.edu	37	chr19	35753459	35753459	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctgcagactggctcttCgtggttgtggtatgcctggc	13	10	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:35753459C>T	uc002nyl.2	+	5	1009	c.786C>T	c.(784-786)TTC>TTT	p.F262F	LSR_uc002nym.2_Silent_p.F243F|LSR_uc002nyn.2_Intron|LSR_uc002nyo.2_Silent_p.F243F|LSR_uc010xsr.1_Intron|LSR_uc002nyp.2_Silent_p.F225F	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	262	Helical; (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	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)			ACTGGCTCTTCGTGGTTGTGG	0.627													T	35753459	C	T	35753459	2	4	191	1	0	0	0	0	0	0	0	1	9064	883	31	1		1	LSR	19	35753459	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	503451	35753459	23375524	1828	104848											
MAG	4099	broad.mit.edu	37	chr19	35800979	35800979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcctcacgctgcggggGcaggcccaggccccgccccg	14	19	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:35800979G>A	uc002nyy.1	+	8	1583	c.1434G>A	c.(1432-1434)GGG>GGA	p.G478G	MAG_uc002nyx.1_Silent_p.G478G|MAG_uc010eds.1_Silent_p.G453G|MAG_uc002nyz.1_Silent_p.G478G	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	478	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			CGCTGCGGGGGCAGGCCCAGG	0.687													A	35800979	G	A	35800979	2	1	191	1	0	0	0	0	0	0	0	1	9162	1190	42	2		2	MAG	19	35800979	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	47520	35800979	23328004	1829	104849											
ATP4A	495	broad.mit.edu	37	chr19	36043937	36043937	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggggcggggcagggctcAcccactcctggccgtagctg	17	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36043937A>G	uc002oal.1	-	18	2780	c.2751_splice	c.e18+1	p.W917_splice	ATP4A_uc010eee.1_Splice_Site_p.W75_splice	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A						ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	GGCAGGGCTCACCCACTCCTG	0.662													G	36043937	A	G	36043937	5	3	191	1	0	0	0	0	0	0	1	0	1145	173	6	3	374	3	ATP4A	19	36043937	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	242958	36043937	23085046	1830	104850											
ATP4A	495	broad.mit.edu	37	chr19	36046581	36046581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgggggggcttacttgCgattaacctggtctacgggc	16	9	2	0	rs145767701		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36046581C>T	uc002oal.1	-	13	2032	c.2003G>A	c.(2002-2004)CGC>CAC	p.R668H	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	668	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	GGCTTACTTGCGATTAACCTG	0.652													T	36046581	C	T	36046581	3	4	191	1	0	0	0	0	1	0	0	0	1145	768	27	1	1144	1	ATP4A	19	36046581	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2644	36046581	23082402	1831	104851											
ARHGAP33	115703	broad.mit.edu	37	chr19	36269464	36269464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggttctcctgccttccGgagcttcccccgccccccga	10	20	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36269464G>A	uc002obr.1	+	5	454	c.369G>A	c.(367-369)CCG>CCA	p.P123P	ARHGAP33_uc002obs.1_Silent_p.P123P|ARHGAP33_uc002obt.1_5'UTR|ARHGAP33_uc010eek.1_Silent_p.P141P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	123	PX; atypical.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CCTGCCTTCCGGAGCTTCCCC	0.612													A	36269464	G	A	36269464	2	1	191	1	0	0	0	0	0	0	0	1	882	1103	39	1		1	ARHGAP33	19	36269464	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	222883	36269464	22859519	1832	104852											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278635	36278635	+	Frame_Shift_Del	DEL	C	C	-													ccaggcttgtaccccctgggCcccccatccttccagcccag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36278634_36278634GC>G	uc002obs.2	+	20	2828	c.2684_2684GC>G	c.(2683-2685)ggcfs	p.G895fs	ARHGAP33_uc002obt.2_Frame_Shift_Del_p.G892fs|ARHGAP33_uc002obv.1_Frame_Shift_Del_p.G644fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1036					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						TACCCCCTGGGCCCCCCATCC	0.667													-	36278635	C	-	36278635	7	5	191	1	0	1	0	1	0	0	0	0	882	726	26	0	3250	0	ARHGAP33	19	36278635	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	9171	36278635	22850348	1833	104853											
APLP1	333	broad.mit.edu	37	chr19	36365538	36365538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttggagggcttcctgGcagccctgcaggcagatccg	14	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36365538G>A	uc002oce.2	+	9	1327	c.1189G>A	c.(1189-1191)GCA>ACA	p.A397T	APLP1_uc010xsz.1_Missense_Mutation_p.A358T|APLP1_uc002ocf.2_Missense_Mutation_p.A397T|APLP1_uc002ocg.2_Missense_Mutation_p.A300T|APLP1_uc010xta.1_Missense_Mutation_p.A391T	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	397	Extracellular (Potential).				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			ovary(2)	2	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)			GGGCTTCCTGGCAGCCCTGCA	0.682													A	36365538	G	A	36365538	3	1	191	1	0	0	0	0	1	0	0	0	778	1203	42	2	1223	2	APLP1	19	36365538	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	86903	36365538	22763445	1834	104854											
WDR62	284403	broad.mit.edu	37	chr19	36557260	36557260	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtgtgtggccttctcAcccaatatgaagcacatcgt	11	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36557260A>G	uc002odc.2	+	5	583	c.492A>G	c.(490-492)TCA>TCG	p.S164S	WDR62_uc002odd.2_Silent_p.S164S|WDR62_uc002odb.2_Silent_p.S164S	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	164	WD 2.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCCTTCTCACCCAATATGA	0.572													G	36557260	A	G	36557260	2	3	191	1	0	0	0	0	0	0	0	1	17310	146	6	3		3	WDR62	19	36557260	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	191722	36557260	22571723	1835	104855											
ZNF570	148268	broad.mit.edu	37	chr19	37975958	37975959	+	Frame_Shift_Ins	INS	-	-	T													gtactgtttgtggaaaggctINStttagttactgtggatccct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:37975957_37975958C>CT	uc010efl.1	+	5	1720_1721	c.1601_1602C>CT	c.(1600-1602)gctfs	p.A534fs	ZNF570_uc002ogk.1_Frame_Shift_Ins_p.A478fs|ZNF570_uc010xtr.1_Frame_Shift_Ins_p.A275fs	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGAAAGGCTTTTAGTTACT	0.426													T	37975959	-	T	37975958	7	5	191	1	0	1	1	0	0	0	0	0	17999	1596	56	0	1448	0	ZNF570	19	37975958	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	1418698	37975958	21153025	1836	104856											
ZNF793	390927	broad.mit.edu	37	chr19	38028415	38028416	+	Frame_Shift_Ins	INS	-	-	T													gggtaagaccctttgaatgtINStttttttgtgggaaagcctt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:38028414_38028415G>GT	uc010efm.3	+	7	1296_1297	c.854_855G>GT	c.(853-855)tgtfs	p.C285fs	ZNF793_uc010xts.2_Frame_Shift_Ins_p.C285fs	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C288fs*113(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTTTGAATGTTTTTTTTGTG	0.465													T	38028416	-	T	38028415	7	5	191	1	0	1	1	0	0	0	0	0	18162	1731	60	0	869	0	ZNF793	19	38028415	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	52457	38028415	21100568	1837	104857											
DPF1	8193	broad.mit.edu	37	chr19	38706786	38706786	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggagcatcacctgatcGcccacagtccgcacaggaga	13	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:38706786G>A	uc002ohl.2	-	8	868	c.841C>T	c.(841-843)CGA>TGA	p.R281*	DPF1_uc002ohm.2_Nonsense_Mutation_p.R325*|DPF1_uc002ohn.2_Nonsense_Mutation_p.R243*|DPF1_uc010xtu.1_Nonsense_Mutation_p.R299*|DPF1_uc010xtv.1_Nonsense_Mutation_p.R299*	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	281	PHD-type 1.				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCACCTGATCGCCCACAGTCC	0.642													A	38706786	G	A	38706786	4	1	191	1	0	0	0	0	0	1	0	0	4716	1095	38	1	317	1	DPF1	19	38706786	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	678371	38706786	20422197	1838	104858											
RYR1	6261	broad.mit.edu	37	chr19	38949797	38949797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgcaggacacgtggcaCgcccagtgacttccccaggg	13	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:38949797C>T	uc002oit.2	+	19	2309	c.2179C>T	c.(2179-2181)CGC>TGC	p.R727C	RYR1_uc002oiu.2_Missense_Mutation_p.R727C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	727	Cytoplasmic.|B30.2/SPRY 1.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACACGTGGCACGCCCAGTGAC	0.582													T	38949797	C	T	38949797	3	4	191	1	0	0	0	0	1	0	0	0	13768	536	19	1	2253	1	RYR1	19	38949797	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	243011	38949797	20179186	1839	104859											
RYR1	6261	broad.mit.edu	37	chr19	39003103	39003103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacatcgcccagcaccAgttcggagatgacgtcatcc	9	16	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:39003103A>G	uc002oit.2	+	63	9582	c.9452A>G	c.(9451-9453)CAG>CGG	p.Q3151R	RYR1_uc002oiu.2_Missense_Mutation_p.Q3151R|RYR1_uc002oiv.1_Missense_Mutation_p.Q71R|RYR1_uc010xuf.1_Missense_Mutation_p.Q71R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3151					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCAGCACCAGTTCGGAGAT	0.647													G	39003103	A	G	39003103	3	3	191	1	0	0	0	0	1	0	0	0	13768	188	7	3	9702	3	RYR1	19	39003103	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	53306	39003103	20125880	1840	104860											
SUPT5H	6829	broad.mit.edu	37	chr19	39963120	39963120	+	Frame_Shift_Del	DEL	C	C	-													cggatcagcagccccatgcaCcccagtgctggaggtgagag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:39963119_39963119AC>A	uc002olo.4	+	20	2200	c.2021_2021AC>A	c.(2020-2022)cacfs	p.H674fs	SUPT5H_uc002olp.4_Frame_Shift_Del_p.H674fs|SUPT5H_uc002olq.4_Frame_Shift_Del_p.H670fs|SUPT5H_uc002oln.4_Frame_Shift_Del_p.H674fs|SUPT5H_uc002olr.4_Frame_Shift_Del_p.H674fs|SUPT5H_uc002ols.1_Frame_Shift_Del_p.H297fs|SUPT5H_uc010egp.1_Frame_Shift_Del_p.H40fs	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	674					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCCCCATGCACCCCAGTGCT	0.587													-	39963120	C	-	39963120	7	5	191	1	0	1	0	1	0	0	0	0	15396	506	18	0	2100	0	SUPT5H	19	39963120	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	960017	39963120	19165863	1841	104861											
DYRK1B	9149	broad.mit.edu	37	chr19	40316485	40316485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggagggctgaggcagccGggtgctggggggcaggcgct	22	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40316485G>A	uc002omj.2	-	11	2040	c.1760C>T	c.(1759-1761)CCG>CTG	p.P587L	DYRK1B_uc002omi.2_Missense_Mutation_p.P559L|DYRK1B_uc002omk.2_Missense_Mutation_p.P547L	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	587					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			TGAGGCAGCCGGGTGCTGGGG	0.701													A	40316485	G	A	40316485	3	1	191	1	0	0	0	0	1	0	0	0	4855	1116	39	1	133	1	DYRK1B	19	40316485	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	353365	40316485	18812498	1842	104862											
CNTD2	79935	broad.mit.edu	37	chr19	40730477	40730477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgatgtagacgcacgCggccagcgctcaggtaggaa	16	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40730477C>T	uc010xvi.1	-	3	480	c.431G>A	c.(430-432)CGC>CAC	p.R144H	CNTD2_uc002ond.2_RNA	NM_024877	NP_079153	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2 isoform 2	144					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0						TAGACGCACGCGGCCAGCGCT	0.617													T	40730477	C	T	40730477	3	4	191	1	0	0	0	0	1	0	0	0	3636	768	27	1	504	1	CNTD2	19	40730477	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	413992	40730477	18398506	1843	104863											
PLD3	23646	broad.mit.edu	37	chr19	40883965	40883965	+	Frame_Shift_Del	DEL	G	G	-													gctggtgacgcagaatgggaGgggcggcctgcggagccagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40883964_40883964AG>A	uc002onm.4	+	12	1755	c.1357_1357AG>A	c.(1357-1359)aggfs	p.R453fs	PLD3_uc002onj.4_Frame_Shift_Del_p.R453fs|PLD3_uc002onn.3_Frame_Shift_Del_p.R453fs	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	453					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)			GCAGAATGGGAGGGGCGGCCT	0.622													-	40883965	G	-	40883965	7	5	191	1	0	1	0	1	0	0	0	0	12047	1000	35	0	1400	0	PLD3	19	40883965	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	153488	40883965	18245018	1844	104864											
SPTBN4	57731	broad.mit.edu	37	chr19	40996012	40996012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcggccgcatgcggatcCactcactggagaacgtggac	14	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40996012C>T	uc002ony.2	+	4	438	c.352C>T	c.(352-354)CAC>TAC	p.H118Y	SPTBN4_uc002onx.2_Missense_Mutation_p.H118Y|SPTBN4_uc002onz.2_Missense_Mutation_p.H118Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	118	CH 1.|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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATGCGGATCCACTCACTGGA	0.667													T	40996012	C	T	40996012	3	4	191	1	0	0	0	0	1	0	0	0	15120	594	21	4	362	4	SPTBN4	19	40996012	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	112047	40996012	18132971	1845	104865											
LTBP4	8425	broad.mit.edu	37	chr19	41132925	41132925	+	Missense_Mutation	SNP	G	G	T													gctacgcccccccgcatataGccccccgcgaccaggtggct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41132925G>T	uc002ooh.1	+	32	4232	c.4232G>T	c.(4231-4233)AGC>ATC	p.S1411I	LTBP4_uc002oog.1_Missense_Mutation_p.S1374I|LTBP4_uc002ooi.1_Missense_Mutation_p.S1344I|LTBP4_uc002ooj.1_Missense_Mutation_p.S284I|LTBP4_uc002ook.1_Missense_Mutation_p.S545I|LTBP4_uc002ool.1_Missense_Mutation_p.S423I|LTBP4_uc010xvp.1_Missense_Mutation_p.S171I	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1411	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)			CCCGCATATAGCCCCCCGCGA	0.622													T	41132925	G	T	41132925	3	4	191	1	0	0	0	0	1	0	0	0	9076	971	34	5	4646	5	LTBP4	19	41132925	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	136913	41132925	17996058	1846	104866	501	2									
LTBP4	8425	broad.mit.edu	37	chr19	41132932	41132932	+	Silent	SNP	G	G	A													ccccccgcatatagccccccGcgaccaggtggctttggact							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41132932G>A	uc002ooh.1	+	32	4239	c.4239G>A	c.(4237-4239)CCG>CCA	p.P1413P	LTBP4_uc002oog.1_Silent_p.P1376P|LTBP4_uc002ooi.1_Silent_p.P1346P|LTBP4_uc002ooj.1_Silent_p.P286P|LTBP4_uc002ook.1_Silent_p.P547P|LTBP4_uc002ool.1_Silent_p.P425P|LTBP4_uc010xvp.1_Silent_p.P173P	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1413	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)			ATAGCCCCCCGCGACCAGGTG	0.627													A	41132932	G	A	41132932	2	1	191	1	0	0	0	0	0	0	0	1	9076	1074	38	1		1	LTBP4	19	41132932	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7	41132932	17996051	1847	104867	501	2									
AXL	558	broad.mit.edu	37	chr19	41744385	41744385	+	Frame_Shift_Del	DEL	C	C	-													tgtcctccagtgcccctgggCccccctgagaacattagtgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41744384_41744384GC>G	uc010ehj.3	+	7	1194	c.1004_1004GC>G	c.(1003-1005)ggcfs	p.G335fs	AXL_uc010ehi.1_Frame_Shift_Del_p.G335fs|AXL_uc010ehk.3_Frame_Shift_Del_p.G335fs	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	335	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						GTGCCCCTGGGCCCCCCTGAG	0.667													-	41744385	C	-	41744385	7	5	191	1	0	1	0	1	0	0	0	0	1238	726	26	0	1035	0	AXL	19	41744385	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	611453	41744385	17384598	1848	104868											
AXL	558	broad.mit.edu	37	chr19	41745098	41745098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatagggctaaggcaagaGgtgaccctggagctgcaggg	17	8	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41745098G>T	uc010ehj.2	+	9	1354	c.1164G>T	c.(1162-1164)GAG>GAT	p.E388D	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.E388D|AXL_uc010ehk.2_Missense_Mutation_p.E388D	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	388	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TAAGGCAAGAGGTGACCCTGG	0.587													T	41745098	G	T	41745098	3	4	191	1	0	0	0	0	1	0	0	0	1238	991	35	5	1198	5	AXL	19	41745098	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	713	41745098	17383885	1849	104869											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41798252	41798252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccttggggggtcaggccCtctatcctcatgtcctggtg	13	12	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41798252C>A	uc002oqb.3	+	8	1391	c.1102C>A	c.(1102-1104)CTC>ATC	p.L368I	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.L268I|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.L368I|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.L254I|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.L268I|HNRNPUL1_uc010eho.2_Missense_Mutation_p.L268I|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.L224I|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.L268I	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	368	B30.2/SPRY.|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			central_nervous_system(1)|skin(1)	2						GGGTCAGGCCCTCTATCCTCA	0.502													A	41798252	C	A	41798252	3	1	191	1	0	0	0	0	1	0	0	0	7274	681	24	5	1132	5	HNRNPUL1	19	41798252	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	53154	41798252	17330731	1850	104870											
TGFB1	7040	broad.mit.edu	37	chr19	41838133	41838133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatccacttccagccgaggTccttgcggaagtcaatgtac	11	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41838133T>C	uc002oqh.1	-	6	1781	c.914A>G	c.(913-915)GAC>GGC	p.D305G	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	305					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)	CCAGCCGAGGTCCTTGCGGAA	0.622													C	41838133	T	C	41838133	3	2	191	1	0	0	0	0	1	0	0	0	15813	1667	58	3	266	3	TGFB1	19	41838133	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	39881	41838133	17290850	1851	104871											
B3GNT8	374907	broad.mit.edu	37	chr19	41932375	41932375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgaagtcagggatctcGgtggcggcggcggcccccca	18	13	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41932375G>A	uc002oqs.2	-	3	763	c.309C>T	c.(307-309)ACC>ACT	p.T103T	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	103	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0						CAGGGATCTCGGTGGCGGCGG	0.682													A	41932375	G	A	41932375	2	1	191	1	0	0	0	0	0	0	0	1	1263	1103	39	1		1	B3GNT8	19	41932375	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	94242	41932375	17196608	1852	104872											
CD79A	973	broad.mit.edu	37	chr19	42383610	42383610	+	Frame_Shift_Del	DEL	C	C	-													actacctccttgcagagccgCcccccaggcccttcctggac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42383610delC	uc002orv.2	+	3	570	c.385delC	c.(385-387)CCCfs	p.P129fs	CD79A_uc002oru.2_Frame_Shift_Del_p.P91fs	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	129	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						TGCAGAGCCGCCCCCCAGGCC	0.677			O|S		DLBCL								-	42383610	C	-	42383610	7	5	191	1	0	1	0	1	0	0	0	0	3036	739	26	0	395	0	CD79A	19	42383610	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	451235	42383610	16745373	1853	104873											
GRIK5	2901	broad.mit.edu	37	chr19	42563569	42563569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggacaccttgtcatcacGgatctccttgagcagtggtg	13	10	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42563569G>A	uc002osj.1	-	5	654	c.619C>T	c.(619-621)CGT>TGT	p.R207C	GRIK5_uc010eib.1_Missense_Mutation_p.R126C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	207	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TTGTCATCACGGATCTCCTTG	0.572													A	42563569	G	A	42563569	3	1	191	1	0	0	0	0	1	0	0	0	6777	1116	39	1	2383	1	GRIK5	19	42563569	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	179959	42563569	16565414	1854	104874											
POU2F2	5452	broad.mit.edu	37	chr19	42621421	42621421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctagctggctgcccGtcaacatgagttgggcctgg	13	14	1	1	rs150784596		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42621421G>A	uc002osp.2	-	5	351	c.284C>T	c.(283-285)ACG>ATG	p.T95M	POU2F2_uc002osn.2_Missense_Mutation_p.T95M|POU2F2_uc002oso.2_Translation_Start_Site|POU2F2_uc002osq.2_Missense_Mutation_p.T95M|POU2F2_uc002osr.1_Missense_Mutation_p.T95M	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	95					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				CTGGCTGCCCGTCAACATGAG	0.617													A	42621421	G	A	42621421	3	1	191	1	0	0	0	0	1	0	0	0	12272	1145	40	1	1147	1	POU2F2	19	42621421	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	57852	42621421	16507562	1855	104875											
DEDD2	162989	broad.mit.edu	37	chr19	42713974	42713974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgactccgccgctgcCgcttggttgggggggagcct	17	15	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42713974C>T	uc002osu.1	-	4	535	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Missense_Mutation_p.R151Q|DEDD2_uc002osx.1_Missense_Mutation_p.G40S|DEDD2_uc002osy.1_Missense_Mutation_p.R156Q|DEDD2_uc010eid.2_RNA	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	death effector domain-containing  DNA binding	156	Bipartite nuclear localization signal (Potential).				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity				0		Prostate(69;0.0704)				CCGCCGCTGCCGCTTGGTTGG	0.662													T	42713974	C	T	42713974	3	4	191	1	0	0	0	0	1	0	0	0	4385	652	23	1	521	1	DEDD2	19	42713974	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	92553	42713974	16415009	1856	104876											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-													cctggcccagccatcccaggCccccccaagcctggtctaca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42796882_42796882GC>G	uc002otf.1	+	13	3380	c.3340_3340GC>G	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		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)				GCCATCCCAGGCCCCCCCAAG	0.682			"Mis, F, S"		oligodendroglioma								-	42796883	C	-	42796883	7	5	191	1	0	1	0	1	0	0	0	0	3424	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	82909	42796883	16332100	1857	104877											
MEGF8	1954	broad.mit.edu	37	chr19	42861648	42861648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggcggttactccccGgaaaatggcttcaaccagca	12	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42861648G>A	uc002otl.3	+	27	5357	c.4722G>A	c.(4720-4722)CCG>CCA	p.P1574P	MEGF8_uc002otm.3_Silent_p.P1182P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1641	Extracellular (Potential).|Kelch 9.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GTTACTCCCCGGAAAATGGCT	0.672													A	42861648	G	A	42861648	2	1	191	1	0	0	0	0	0	0	0	1	9463	1103	39	1		1	MEGF8	19	42861648	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	64765	42861648	16267335	1858	104878											
LYPD3	27076	broad.mit.edu	37	chr19	43967403	43967403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcccacacagctgtagCactccacgccgttgggcggg	13	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:43967403C>T	uc002owl.1	-	4	527	c.419G>A	c.(418-420)TGC>TAC	p.C140Y	LYPD3_uc002owm.2_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	GPI-anchored metastasis-associated protein	140	UPAR/Ly6 2.					anchored to plasma membrane				pancreas(1)	1		Prostate(69;0.0153)				ACAGCTGTAGCACTCCACGCC	0.622													T	43967403	C	T	43967403	3	4	191	1	0	0	0	0	1	0	0	0	9111	710	25	2	629	2	LYPD3	19	43967403	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1105755	43967403	15161580	1859	104879											
KCNN4	3783	broad.mit.edu	37	chr19	44280754	44280754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaaggtggaaatgctgAtcgtgcatttaaccaggaac	12	6	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:44280754A>C	uc002oxl.2	-	2	590	c.194T>G	c.(193-195)ATC>AGC	p.I65S	KCNN4_uc010eiz.2_5'Flank|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	65	Helical; Name=Segment S2; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GGAAATGCTGATCGTGCATTT	0.592													C	44280754	A	C	44280754	3	2	191	1	0	0	0	0	1	0	0	0	8081	333	12	5	1117	5	KCNN4	19	44280754	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	313351	44280754	14848229	1860	104880											
ZNF225	7768	broad.mit.edu	37	chr19	44635779	44635779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatagtcatcgcatggtcCacacaggagagaaacggtac	10	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:44635779C>A	uc002oyj.1	+	5	1255	c.1012C>A	c.(1012-1014)CAC>AAC	p.H338N	ZNF225_uc010eje.1_Missense_Mutation_p.H255N|ZNF225_uc010ejf.1_Missense_Mutation_p.H338N	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	338	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				TCGCATGGTCCACACAGGAGA	0.433													A	44635779	C	A	44635779	3	1	191	1	0	0	0	0	1	0	0	0	17776	594	21	5	1026	5	ZNF225	19	44635779	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	355025	44635779	14493204	1861	104881											
ZFP112	7771	broad.mit.edu	37	chr19	44832877	44832877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgaccttgaagatatAaattatggctgaagctgtta	10	4	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:44832877A>G	uc010ejj.2	-	5	1564	c.1451T>C	c.(1450-1452)TTA>TCA	p.L484S	ZFP112_uc002ozc.3_Missense_Mutation_p.L478S|ZFP112_uc010xwy.1_Missense_Mutation_p.L501S|ZFP112_uc010xwz.1_Missense_Mutation_p.L483S	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	484	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TTGAAGATATAAATTATGGCT	0.413													G	44832877	A	G	44832877	3	3	191	1	0	0	0	0	1	0	0	0	17635	372	13	3	1294	3	ZFP112	19	44832877	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	197098	44832877	14296106	1862	104882											
ZNF296	162979	broad.mit.edu	37	chr19	45574970	45574970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagcgggtgctgccaggCgtcatgccgtgcatgcggcg	17	12	1	0	rs145168144		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:45574970C>T	uc002pao.2	-	3	1374	c.1317G>A	c.(1315-1317)ACG>ACA	p.T439T		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	439					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCTGCCAGGCGTCATGCCGT	0.677													T	45574970	C	T	45574970	2	4	191	1	0	0	0	0	0	0	0	1	17825	755	27	1		1	ZNF296	19	45574970	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	742093	45574970	13554013	1863	104883											
DMWD	1762	broad.mit.edu	37	chr19	46288989	46288989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctccagcaggggcacctCgtggatgcgcgggcacagcg	18	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46288989C>T	uc002pdj.1	-	3	1811	c.1765G>A	c.(1765-1767)GAG>AAG	p.E589K	DMWD_uc002pdk.1_Missense_Mutation_p.E589K|DMWD_uc010eko.1_Missense_Mutation_p.E274K	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	589					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGGGGCACCTCGTGGATGCGC	0.682													T	46288989	C	T	46288989	3	4	191	1	0	0	0	0	1	0	0	0	4593	893	31	1	271	1	DMWD	19	46288989	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	714019	46288989	12839994	1864	104884											
FOXA3	3171	broad.mit.edu	37	chr19	46375367	46375367	+	Frame_Shift_Del	DEL	C	C	-													gaccccagtgcccaccatggCccccctcaactcctacatga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46375366_46375366GC>G	uc002pdr.3	+	1	300	c.103_103GC>G	c.(103-105)gccfs	p.A35fs		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	35					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)		GCCCACCATGGCCCCCCTCAA	0.642													-	46375367	C	-	46375367	7	5	191	1	0	1	0	1	0	0	0	0	5991	739	26	0	110	0	FOXA3	19	46375367	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	86378	46375367	12753616	1865	104885											
PPP5C	5536	broad.mit.edu	37	chr19	46890636	46890636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagatcatgcacggagGcctgttcagtgaagacggtg	13	11	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46890636G>A	uc002pem.2	+	9	1121	c.1061G>A	c.(1060-1062)GGC>GAC	p.G354D	PPP5C_uc010xya.1_Missense_Mutation_p.G221D|PPP5C_uc002pen.2_Missense_Mutation_p.G332D|PPP5C_uc010xyb.1_Missense_Mutation_p.G212D	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	354	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			lung(1)|pancreas(1)	2		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)		ATGCACGGAGGCCTGTTCAGT	0.607													A	46890636	G	A	46890636	3	1	191	1	0	0	0	0	1	0	0	0	12406	1203	42	2	1095	2	PPP5C	19	46890636	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	515269	46890636	12238347	1866	104886											
CCDC8	83987	broad.mit.edu	37	chr19	46914767	46914767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctgccctctggccaGcccgggcctgtgccctctga	11	19	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46914767G>A	uc002pep.2	-	1	2153	c.1301C>T	c.(1300-1302)GCT>GTT	p.A434V		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	434						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCTGGCCAGCCCGGGCCTG	0.592													A	46914767	G	A	46914767	3	1	191	1	0	0	0	0	1	0	0	0	2853	971	34	2	319	2	CCDC8	19	46914767	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	24131	46914767	12214216	1867	104887											
SLC1A5	6510	broad.mit.edu	37	chr19	47280536	47280536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgaacactgcggccacGcactggaagagcgcggcacc	13	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:47280536G>A	uc002pfs.2	-	6	1805	c.1185C>T	c.(1183-1185)TGC>TGT	p.C395C	SLC1A5_uc010xyh.1_Silent_p.C193C|SLC1A5_uc002pfq.2_Silent_p.C219C|SLC1A5_uc002pfr.2_Silent_p.C167C	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	395	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTGCGGCCACGCACTGGAAGA	0.602													A	47280536	G	A	47280536	2	1	191	1	0	0	0	0	0	0	0	1	14435	1079	38	1		1	SLC1A5	19	47280536	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	365769	47280536	11848447	1868	104888											
NPAS1	4861	broad.mit.edu	37	chr19	47548656	47548656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtcctgaagcaggatcCggtgcggccatggggcctgg	19	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:47548656C>T	uc002pfw.2	+	12	1716	c.1520C>T	c.(1519-1521)CCG>CTG	p.P507L	NPAS1_uc002pfx.2_Missense_Mutation_p.P332L|NPAS1_uc002pfy.2_Missense_Mutation_p.P507L|NPAS1_uc010xyj.1_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	507					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		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)		AAGCAGGATCCGGTGCGGCCA	0.746													T	47548656	C	T	47548656	3	4	191	1	0	0	0	0	1	0	0	0	10562	652	23	1	1562	1	NPAS1	19	47548656	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	268120	47548656	11580327	1869	104889											
NAPA	8775	broad.mit.edu	37	chr19	47991636	47991636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgggagatggagtcgTattccttcacctgagggcac	13	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:47991636T>C	uc002pha.1	-	11	1097	c.797A>G	c.(796-798)TAC>TGC	p.Y266C	uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.Y227C|NAPA_uc002phc.1_Missense_Mutation_p.Y153C|NAPA_uc002phd.1_Missense_Mutation_p.Y266C	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	266					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		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)		GATGGAGTCGTATTCCTTCAC	0.607													C	47991636	T	C	47991636	3	2	191	1	0	0	0	0	1	0	0	0	10161	1638	57	3	94	3	NAPA	19	47991636	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	442980	47991636	11137347	1870	104890											
TPRX1	284355	broad.mit.edu	37	chr19	48306062	48306062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtggaggctgcagatcGtgggttccgccgctggaagg	18	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:48306062G>A	uc002php.1	-	2	277	c.206C>T	c.(205-207)ACG>ATG	p.T69M		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		GCTGCAGATCGTGGGTTCCGC	0.682													A	48306062	G	A	48306062	3	1	191	1	0	0	0	0	1	0	0	0	16419	1145	40	1	1033	1	TPRX1	19	48306062	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	314426	48306062	10822921	1871	104891											
PLA2G4C	8605	broad.mit.edu	37	chr19	48565257	48565257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagcccttctcgattacctCgaaaggatctccggcactga	8	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:48565257C>T	uc002phx.2	-	14	1653	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K	PLA2G4C_uc002phw.2_Missense_Mutation_p.E354K|PLA2G4C_uc010elr.2_Missense_Mutation_p.E419K|PLA2G4C_uc010xzd.1_Missense_Mutation_p.E429K	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	419	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		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)		TCGATTACCTCGAAAGGATCT	0.632													T	48565257	C	T	48565257	3	4	191	1	0	0	0	0	1	0	0	0	12003	893	31	1	390	1	PLA2G4C	19	48565257	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	259195	48565257	10563726	1872	104892											
PLEKHA4	57664	broad.mit.edu	37	chr19	49364681	49364682	+	Frame_Shift_Ins	INS	-	-	G													aaggtgaagcgccgccctcgINSgggggctcccggcccatctg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49364680_49364681C>CG	uc002pkx.3	-	4	894_895	c.343_344G>CG	c.(343-345)cgafs	p.R115fs	PLEKHA4_uc010eml.3_Frame_Shift_Ins_p.R115fs	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	115	PH.					cytoplasm|membrane	1-phosphatidylinositol binding	p.R115R(2)		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)		GCGCCGCCCTCGGGGGGCTCCC	0.604													G	49364682	-	G	49364681	7	5	191	1	0	1	1	0	0	0	0	0	12058	1124	39	0	2060	0	PLEKHA4	19	49364681	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	799424	49364681	9764302	1873	104893											
DHDH	27294	broad.mit.edu	37	chr19	49448111	49448111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtcctgtgattcccctgtCggaaagtgagctcctggctg	12	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49448111C>T	uc002ple.1	+	7	966	c.926C>T	c.(925-927)TCG>TTG	p.S309L		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	309					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				0		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)		ATTCCCCTGTCGGAAAGTGAG	0.522													T	49448111	C	T	49448111	3	4	191	1	0	0	0	0	1	0	0	0	4479	893	31	1	952	1	DHDH	19	49448111	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	83430	49448111	9680872	1874	104894											
CGB2	114336	broad.mit.edu	37	chr19	49536447	49536447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccatcccgactcccggGgccctcagacaccccgatcc	8	21	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49536447G>A	uc002plw.2	+	3	684	c.461G>A	c.(460-462)GGG>GAG	p.G154E	CGB_uc010yad.1_Intron|SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.1_Missense_Mutation_p.G142E|CGB2_uc010yag.1_Missense_Mutation_p.G142E	NM_033378	NP_203696			chorionic gonadotropin, beta polypeptide 2												0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGACTCCCGGGGCCCTCAGAC	0.632													A	49536447	G	A	49536447	3	1	191	1	0	0	0	0	1	0	0	0	3298	1232	43	4	471	4	CGB2	19	49536447	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	88336	49536447	9592536	1875	104895											
TRPM4	54795	broad.mit.edu	37	chr19	49671859	49671859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgacccggaggacggggTccagtttcccctggactaca	14	13	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49671859T>C	uc002pmw.2	+	6	734	c.662T>C	c.(661-663)GTC>GCC	p.V221A	TRPM4_uc010emu.2_Missense_Mutation_p.V221A|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.V47A|TRPM4_uc010emv.2_Missense_Mutation_p.V106A|TRPM4_uc010yal.1_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	221	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		GAGGACGGGGTCCAGTTTCCC	0.577													C	49671859	T	C	49671859	3	2	191	1	0	0	0	0	1	0	0	0	16585	1667	58	3	684	3	TRPM4	19	49671859	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	135412	49671859	9457124	1876	104896											
PIH1D1	55011	broad.mit.edu	37	chr19	49949668	49949668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggcagaagcggcatggCcaccattaattgctgaggag	13	11	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49949668C>T	uc002pns.2	-	9	1128	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	282					box C/D snoRNP assembly	pre-snoRNP complex					0		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)		AGCGGCATGGCCACCATTAAT	0.552													T	49949668	C	T	49949668	3	4	191	1	0	0	0	0	1	0	0	0	11906	739	26	2	32	2	PIH1D1	19	49949668	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	277809	49949668	9179315	1877	104897											
NOSIP	51070	broad.mit.edu	37	chr19	50059858	50059858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaggctgtcgcgggtcaCggcacacacgtagcgctcgc	14	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50059858C>T	uc002pok.2	-	8	825	c.673G>A	c.(673-675)GTG>ATG	p.V225M	NOSIP_uc002pol.2_Missense_Mutation_p.V225M	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	225					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TCGCGGGTCACGGCACACACG	0.697													T	50059858	C	T	50059858	3	4	191	1	0	0	0	0	1	0	0	0	10545	536	19	1	244	1	NOSIP	19	50059858	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	110190	50059858	9069125	1878	104898											
ATF5	22809	broad.mit.edu	37	chr19	50435750	50435750	+	Frame_Shift_Del	DEL	C	C	-													tccctctggagcctcccttaCcccccggcaccctcccccaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50435749_50435749AC>A	uc010enq.2	+	3	831	c.249_249AC>A	c.(247-249)ttafs	p.L83fs	IL4I1_uc021uxy.1_5'Flank|IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002prb.3_5'Flank|NUP62_uc002pqx.3_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Frame_Shift_Del_p.L83fs|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	83					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGCCTCCCTTACCCCCCGGCA	0.567													-	50435750	C	-	50435750	7	5	191	1	0	1	0	1	0	0	0	0	1083	507	18	0	256	0	ATF5	19	50435750	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	375892	50435750	8693233	1879	104899											
ZNF473	25888	broad.mit.edu	37	chr19	50548543	50548543	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagagtacatacctgtgGcatcagaaaactcacactgg	9	10	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50548543G>A	uc002prn.2	+	5	1080	c.843G>A	c.(841-843)TGG>TGA	p.W281*	ZNF473_uc002prm.2_Nonsense_Mutation_p.W281*|ZNF473_uc010ybo.1_Nonsense_Mutation_p.W269*	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	281	C2H2-type 2; degenerate.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CATACCTGTGGCATCAGAAAA	0.438													A	50548543	G	A	50548543	4	1	191	1	0	0	0	0	0	1	0	0	17928	1212	42	2	857	2	ZNF473	19	50548543	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	112793	50548543	8580440	1880	104900											
MYH14	79784	broad.mit.edu	37	chr19	50747580	50747580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccgatcaagccaccaTgcctgacaacacaggtactg	8	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50747580T>C	uc002prr.1	+	10	1219	c.1172T>C	c.(1171-1173)ATG>ACG	p.M391T	MYH14_uc010enu.1_Missense_Mutation_p.M399T|MYH14_uc002prq.1_Missense_Mutation_p.M399T	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	391	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CAAGCCACCATGCCTGACAAC	0.627													C	50747580	T	C	50747580	3	2	191	1	0	0	0	0	1	0	0	0	10033	1464	51	3	1234	3	MYH14	19	50747580	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	199037	50747580	8381403	1881	104901											
LRRC4B	94030	broad.mit.edu	37	chr19	51021091	51021091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacggacacggccgaggCggcgggcagctcgtcctcca	16	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:51021091C>T	uc002pss.2	-	3	2016	c.1879G>A	c.(1879-1881)GCC>ACC	p.A627T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	627	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACGGCCGAGGCGGCGGGCAGC	0.726													T	51021091	C	T	51021091	3	4	191	1	0	0	0	0	1	0	0	0	9007	768	27	1	266	1	LRRC4B	19	51021091	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	273511	51021091	8107892	1882	104902											
KLK12	43849	broad.mit.edu	37	chr19	51535273	51535273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcagccggaggtcgtgctCgtggctcgtcgaggctccca	15	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:51535273C>T	uc002pvg.1	-	3	436	c.316G>A	c.(316-318)GAG>AAG	p.E106K	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.E106K|KLK12_uc002pvi.1_Missense_Mutation_p.E106K|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	106	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGGTCGTGCTCGTGGCTCGTC	0.682													T	51535273	C	T	51535273	3	4	191	1	0	0	0	0	1	0	0	0	8400	893	31	1	504	1	KLK12	19	51535273	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	514182	51535273	7593710	1883	104903											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961233	51961233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttgtaattcaactgtgAtttgtaactccatttcatgc	6	7	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:51961233A>G	uc002pwt.2	-	1	476	c.409T>C	c.(409-411)TCA>CCA	p.S137P	SIGLEC8_uc010yda.1_Missense_Mutation_p.S137P|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.S137P	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	137	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCAACTGTGATTTGTAACTC	0.507													G	51961233	A	G	51961233	3	3	191	1	0	0	0	0	1	0	0	0	14314	333	12	3	1118	3	SIGLEC8	19	51961233	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	425960	51961233	7167750	1884	104904											
ZNF836	162962	broad.mit.edu	37	chr19	52659509	52659509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtctgactgaagaccttgCcacattcattgcatttgtaa	7	9	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:52659509C>T	uc010ydi.1	-	5	1801	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D	ZNF836_uc010ydj.1_Missense_Mutation_p.G476D	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	476	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAGACCTTGCCACATTCATT	0.423													T	52659509	C	T	52659509	3	4	191	1	0	0	0	0	1	0	0	0	18184	739	26	2	1385	2	ZNF836	19	52659509	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	698276	52659509	6469474	1885	104905											
PPP2R1A	5518	broad.mit.edu	37	chr19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacccccatggtgcggcGggccgcagcctccaagctgg	14	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:52715983G>A	uc002pyp.2	+	5	707	c.548G>A	c.(547-549)CGG>CAG	p.R183Q	PPP2R1A_uc010ydk.1_Missense_Mutation_p.R128Q|PPP2R1A_uc010epm.1_Missense_Mutation_p.R223Q|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R4Q	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	183	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens 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	p.R183W(16)|p.R183Q(7)|p.R183G(2)		endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.562			Mis		clear cell ovarian carcinoma								A	52715983	G	A	52715983	3	1	191	1	0	0	0	0	1	0	0	0	12382	1116	39	1	566	1	PPP2R1A	19	52715983	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	56474	52715983	6413000	1886	104906											
PPP2R1A	5518	broad.mit.edu	37	chr19	52724264	52724264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggcagccaccagcaacCtgaagaagctagtggaaaag	13	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:52724264C>A	uc002pyp.2	+	12	1555	c.1396C>A	c.(1396-1398)CTG>ATG	p.L466M	PPP2R1A_uc010ydk.1_Missense_Mutation_p.L411M|PPP2R1A_uc002pyq.2_Missense_Mutation_p.L287M	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	466	PP2A subunit C binding.|HEAT 12.				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			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACCAGCAACCTGAAGAAGCT	0.547			Mis		clear cell ovarian carcinoma								A	52724264	C	A	52724264	3	1	191	1	0	0	0	0	1	0	0	0	12382	680	24	5	1442	5	PPP2R1A	19	52724264	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8281	52724264	6404719	1887	104907											
ZNF83	55769	broad.mit.edu	37	chr19	53158850	53158850	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtagttctccaacatcaCggccctgtataaagccctct	6	15	3	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:53158850C>T	uc010epz.2	-	3	364	c.-484G>A	c.(-486--482)CCGTG>CCATG		ZNF83_uc010eqb.1_Translation_Start_Site	NM_001105554	NP_001099024	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform b							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCCAACATCACGGCCCTGTAT	0.478													T	53158850	C	T	53158850	1	4	191	1	0	0	0	0	0	0	0	0	18180	551	19	1		1	ZNF83	19	53158850	Translation_Start_Site	SNP	C	TCGA-CG-5723-01A-11D-1600-08	434586	53158850	5970133	1888	104908											
ZNF813	126017	broad.mit.edu	37	chr19	53994075	53994075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataactatgggaataatttcCggaattcttcgttactcaca	6	8	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:53994075C>T	uc002qbu.2	+	4	717	c.589C>T	c.(589-591)CGG>TGG	p.R197W	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAATAATTTCCGGAATTCTTC	0.373													T	53994075	C	T	53994075	3	4	191	1	0	0	0	0	1	0	0	0	18172	643	23	1	599	1	ZNF813	19	53994075	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	835225	53994075	5134908	1889	104909											
NLRP12	91662	broad.mit.edu	37	chr19	54314260	54314260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacttgcctatccctgccGcgccttgcatgaccacggtg	11	15	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54314260G>A	uc002qch.3	-	3	873	c.653C>T	c.(652-654)GCG>GTG	p.A218V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A218V|NLRP12_uc002qcj.3_Missense_Mutation_p.A218V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A218V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	218	NACHT.|ATP (Potential).				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			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TATCCCTGCCGCGCCTTGCAT	0.592													A	54314260	G	A	54314260	3	1	191	1	0	0	0	0	1	0	0	0	10474	1087	38	1	2660	1	NLRP12	19	54314260	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	320185	54314260	4814723	1890	104910											
CACNG6	59285	broad.mit.edu	37	chr19	54515282	54515282	+	Frame_Shift_Del	DEL	C	C	-													agagagtcagcccggagcctCccccggccccacgcctcacc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54515281_54515281TC>T	uc002qct.3	+	3	1211	c.621_621TC>T	c.(619-621)cctfs	p.P207fs	CACNG6_uc002qcu.3_Frame_Shift_Del_p.P161fs|CACNG6_uc002qcv.3_Frame_Shift_Del_p.P136fs	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	207						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	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;0.168)		GCCCGGAGCCTCCCCCGGCCC	0.697													-	54515282	C	-	54515282	7	5	191	1	0	1	0	1	0	0	0	0	2561	855	30	0	636	0	CACNG6	19	54515282	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	201022	54515282	4613701	1891	104911											
TMC4	147798	broad.mit.edu	37	chr19	54669187	54669187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgatgcgctggcgcagcCgcacgtggacgtccccgcag	15	14	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54669187C>T	uc010erf.2	-	6	1061	c.929G>A	c.(928-930)CGG>CAG	p.R310Q	TMC4_uc002qdn.2_5'Flank|TMC4_uc002qdo.2_Missense_Mutation_p.R304Q	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	310	Extracellular (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGCGCAGCCGCACGTGGAC	0.622													T	54669187	C	T	54669187	3	4	191	1	0	0	0	0	1	0	0	0	15984	652	23	1	1249	1	TMC4	19	54669187	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	153905	54669187	4459796	1892	104912											
LILRB3	11025	broad.mit.edu	37	chr19	54721312	54721312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttcaccggggcatacGtcactgcctgggggtcttca	13	11	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54721312G>A	uc002qef.1	-	12	1736	c.1625C>T	c.(1624-1626)ACG>ATG	p.T542M	LILRB3_uc002qee.1_Missense_Mutation_p.T543M|LILRB3_uc002qeh.1_Missense_Mutation_p.T542M|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.T542M|LILRA6_uc002qek.1_Missense_Mutation_p.T543M|LILRB3_uc010erh.1_Missense_Mutation_p.T559M|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.T542M|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.T543M|LILRB3_uc002qep.1_Missense_Mutation_p.T543M|LILRB3_uc002qeq.1_Missense_Mutation_p.T542M|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.T543M	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	542	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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)		CGGGGCATACGTCACTGCCTG	0.572													A	54721312	G	A	54721312	3	1	191	1	0	0	0	0	1	0	0	0	8792	1145	40	1	278	1	LILRB3	19	54721312	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	52125	54721312	4407671	1893	104913											
LAIR1	3903	broad.mit.edu	37	chr19	54872811	54872811	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgagatggagggtctgggcaGatcttctaggagggaagcag	18	6	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54872811G>T	uc002qfk.1	-	3	386	c.76C>A	c.(76-78)CTG>ATG	p.L26M	LAIR1_uc002qfl.1_Missense_Mutation_p.L26M|LAIR1_uc002qfm.1_Missense_Mutation_p.L25M|LAIR1_uc002qfn.1_Missense_Mutation_p.L25M|LAIR1_uc010yex.1_Missense_Mutation_p.L19M|LAIR1_uc002qfo.2_Missense_Mutation_p.L8M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	26	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGTCTGGGCAGATCTTCTAGG	0.453													T	54872811	G	T	54872811	3	4	191	1	0	0	0	0	1	0	0	0	8602	933	33	5	819	5	LAIR1	19	54872811	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	151499	54872811	4256172	1894	104914											
LILRA2	11027	broad.mit.edu	37	chr19	55086397	55086397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcttctccgtgggcccCgtgagcccgagtcgcaggtg	14	15	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55086397C>T	uc002qgg.3	+	4	641	c.552C>T	c.(550-552)CCC>CCT	p.P184P	LILRA2_uc010ern.2_Silent_p.P184P|LILRA2_uc002qgf.2_Silent_p.P184P|LILRA2_uc010yfe.1_Silent_p.P184P|LILRA2_uc010yff.1_Silent_p.P172P|LILRA2_uc010ero.2_Silent_p.P172P|LILRA2_uc010yfg.1_Silent_p.P184P	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	184	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCGTGGGCCCCGTGAGCCCGA	0.577													T	55086397	C	T	55086397	2	4	191	1	0	0	0	0	0	0	0	1	8785	639	23	1		1	LILRA2	19	55086397	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	213586	55086397	4042586	1895	104915											
KIR2DL3	3804	broad.mit.edu	37	chr19	55263199	55263199	+	Frame_Shift_Del	DEL	A	A	-													ttcatcgctggtgctgcaacAaaaaaagtaagtctcacgaa							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55263199delA	uc002qgv.2	+	6	832	c.814delA	c.(814-816)AAAfs	p.K272fs	KIR2DL3_uc002qgx.2_Frame_Shift_Del_p.K272fs|KIR2DL3_uc002qgy.2_Frame_Shift_Del_p.K174fs|KIR2DL3_uc010erw.1_Frame_Shift_Del_p.K272fs|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	272	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		GTGCTGCAACAAAAAAAGTAA	0.438													-	55263199	A	-	55263199	7	5	191	1	0	1	0	1	0	0	0	0	8317	131	5	0	836	0	KIR2DL3	19	55263199	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	176802	55263199	3865784	1896	104916											
NLRP7	199713	broad.mit.edu	37	chr19	55451377	55451377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcttctcccagtccccGcagatgtcctggatcagcgc	8	16	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55451377G>A	uc002qih.3	-	4	886	c.810C>T	c.(808-810)TGC>TGT	p.C270C	NLRP7_uc002qig.3_Silent_p.C270C|NLRP7_uc002qii.3_Silent_p.C270C|NLRP7_uc010esk.2_Silent_p.C270C|NLRP7_uc010esl.2_Silent_p.C298C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	270	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CCCAGTCCCCGCAGATGTCCT	0.592													A	55451377	G	A	55451377	2	1	191	1	0	0	0	0	0	0	0	1	10482	1079	38	1		1	NLRP7	19	55451377	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	188178	55451377	3677606	1897	104917											
NLRP2	55655	broad.mit.edu	37	chr19	55481476	55481476	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttcaagtatctgatcacGaccttctccctggcacacga	7	13	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55481476G>A	uc002qij.2	+	2	179	c.93G>A	c.(91-93)ACG>ACA	p.T31T	NLRP2_uc010yfp.1_Silent_p.T31T|NLRP2_uc010esn.2_Silent_p.T31T|NLRP2_uc010eso.2_Silent_p.T31T|NLRP2_uc010esp.2_Silent_p.T31T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	31	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCTGATCACGACCTTCTCCC	0.547													A	55481476	G	A	55481476	2	1	191	1	0	0	0	0	0	0	0	1	10477	1045	37	1		1	NLRP2	19	55481476	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	30099	55481476	3647507	1898	104918											
BRSK1	84446	broad.mit.edu	37	chr19	55816195	55816195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccccccagccccggcGgtggcgtcgggggagccgcc	15	20	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55816195G>A	uc002qkg.2	+	14	1901	c.1624G>A	c.(1624-1626)GGT>AGT	p.G542S	BRSK1_uc002qkf.2_Missense_Mutation_p.G558S|BRSK1_uc002qkh.2_Missense_Mutation_p.G237S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	542					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			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CAGCCCCGGCGGTGGCGTCGG	0.721													A	55816195	G	A	55816195	3	1	191	1	0	0	0	0	1	0	0	0	1523	1116	39	1	1678	1	BRSK1	19	55816195	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	334719	55816195	3312788	1899	104919											
ZNF628	89887	broad.mit.edu	37	chr19	55993938	55993938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctacaaatgtgccgagtgcGgcaagtccttcaagggctcc	11	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55993938G>T	uc002qld.2	+	3	1931	c.1366G>T	c.(1366-1368)GGC>TGC	p.G456C	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	456	C2H2-type 10.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGCCGAGTGCGGCAAGTCCTT	0.731													T	55993938	G	T	55993938	3	4	191	1	0	0	0	0	1	0	0	0	18049	1116	39	5	1368	5	ZNF628	19	55993938	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	177743	55993938	3135045	1900	104920											
ZNF470	388566	broad.mit.edu	37	chr19	57088950	57088950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaatgcttctcttataCgtcatcggcgatattatcat	8	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:57088950C>T	uc002qnl.3	+	6	1829	c.1153C>T	c.(1153-1155)CGT>TGT	p.R385C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	385	C2H2-type 6.|Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTCTCTTATACGTCATCGGCG	0.418													T	57088950	C	T	57088950	3	4	191	1	0	0	0	0	1	0	0	0	17926	536	19	1	1167	1	ZNF470	19	57088950	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1095012	57088950	2040033	1901	104921											
ZIM2	23619	broad.mit.edu	37	chr19	57286617	57286617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcgtgtctcctaagggcTacttgcgtactaaaggttcg	11	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:57286617T>C	uc002qnr.2	-	11	1405	c.1023A>G	c.(1021-1023)GTA>GTG	p.V341V	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.V137V|ZIM2_uc010ygr.1_Silent_p.V137V|ZIM2_uc002qnq.2_Silent_p.V341V|ZIM2_uc010etp.2_Silent_p.V341V|ZIM2_uc010ygs.1_Silent_p.V341V	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	341	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCCTAAGGGCTACTTGCGTAC	0.463													C	57286617	T	C	57286617	2	2	191	1	0	0	0	0	0	0	0	1	17681	1509	53	3		3	ZIM2	19	57286617	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	197667	57286617	1842366	1902	104922											
ZIM3	114026	broad.mit.edu	37	chr19	57646387	57646387	+	Frame_Shift_Del	DEL	T	T	-													aggtttttgtccagtatgggTttttttatgcaaactaaggt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:57646386_57646386GT>G	uc002qnz.1	-	4	1705	c.1319_1319AC>C	c.(1318-1320)accfs	p.T440fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	440					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)		TCCAGTATGGGTTTTTTTATG	0.408													-	57646387	T	-	57646387	7	5	191	1	0	1	0	1	0	0	0	0	17682	1725	60	0	104	0	ZIM3	19	57646387	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	359770	57646387	1482596	1903	104923											
ZNF776	284309	broad.mit.edu	37	chr19	58266024	58266024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcattaaacatcaacgagTtcacacgggagaaagacatc	7	11	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58266024T>C	uc002qpx.2	+	3	1749	c.1526T>C	c.(1525-1527)GTT>GCT	p.V509A	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.V509A	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	509	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CATCAACGAGTTCACACGGGA	0.423													C	58266024	T	C	58266024	3	2	191	1	0	0	0	0	1	0	0	0	18146	1725	60	3	1536	3	ZNF776	19	58266024	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	619637	58266024	862959	1904	104924											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565039	58565039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaggcatctcggtagtgCcgcgtgggccccgaggtggg	18	11	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58565039C>T	uc002qrc.1	+	6	1094	c.847C>T	c.(847-849)CCG>TCG	p.P283S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	283					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCGGTAGTGCCGCGTGGGCC	0.622													T	58565039	C	T	58565039	3	4	191	1	0	0	0	0	1	0	0	0	18223	739	26	2	861	2	ZSCAN1	19	58565039	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	299015	58565039	563944	1905	104925											
ZSCAN18	65982	broad.mit.edu	37	chr19	58598704	58598704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcggtgttggcagggccGtcctcttcggtctttgcttc	13	12	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58598704G>A	uc002qri.2	-	4	930	c.621C>T	c.(619-621)GAC>GAT	p.D207D	ZSCAN18_uc002qrj.3_Silent_p.D207D|ZSCAN18_uc010yhs.1_Silent_p.D72D|ZSCAN18_uc002qrh.2_Silent_p.D207D|ZSCAN18_uc010yht.1_Silent_p.D263D|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		TGGCAGGGCCGTCCTCTTCGG	0.632													A	58598704	G	A	58598704	2	1	191	1	0	0	0	0	0	0	0	1	18227	1136	40	1		1	ZSCAN18	19	58598704	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	33665	58598704	530279	1906	104926											
ZNF8	7554	broad.mit.edu	37	chr19	58806136	58806136	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtgccgaatgtgggaagtCtttctgccatagtacacacc	11	10	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58806136C>T	uc002qry.1	+	4	1092	c.962C>T	c.(961-963)TCT>TTT	p.S321F	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	321	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TGTGGGAAGTCTTTCTGCCAT	0.552													T	58806136	C	T	58806136	3	4	191	1	0	0	0	0	1	0	0	0	18164	913	32	4	976	4	ZNF8	19	58806136	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	207432	58806136	322847	1907	104927											
ZSCAN22	342945	broad.mit.edu	37	chr19	58849911	58849911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaggaacagttctagtgCgtggccaaacctcacctccc	9	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58849911C>T	uc002qsc.2	+	3	842	c.695C>T	c.(694-696)GCG>GTG	p.A232V	ZSCAN22_uc010yhz.1_Missense_Mutation_p.R227C	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	232					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		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)		AGTTCTAGTGCGTGGCCAAAC	0.522													T	58849911	C	T	58849911	3	4	191	1	0	0	0	0	1	0	0	0	18231	768	27	1	701	1	ZSCAN22	19	58849911	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	43775	58849911	279072	1908	104928											
ZNF324B	388569	broad.mit.edu	37	chr19	58967706	58967706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagggtttcgccaagggCgccgtgctgctcagccaccg	15	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58967706C>T	uc002qsv.1	+	4	1502	c.1395C>T	c.(1393-1395)GGC>GGT	p.G465G	ZNF324B_uc002qsu.1_Silent_p.G455G|ZNF324B_uc010euq.1_Silent_p.G465G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	465	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TCGCCAAGGGCGCCGTGCTGC	0.687													T	58967706	C	T	58967706	2	4	191	1	0	0	0	0	0	0	0	1	17842	755	27	1		1	ZNF324B	19	58967706	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	117795	58967706	161277	1909	104929											
DEFB129	140881	broad.mit.edu	37	chr20	210188	210188	+	Frame_Shift_Del	DEL	T	T	-													cccaaatcaaaagcactagcTtttttgctaataccaacttt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:210187_210187CT>C	uc002wda.3	+	1	358	c.327_327CT>C	c.(325-327)agcfs	p.S109fs		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	109					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAAGCACTAGCTTTTTTGCTA	0.408													-	210188	T	-	210188	7	5	191	1	0	1	0	1	0	0	0	0	4415	1609	56	0	334	0	DEFB129	20	210188	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08		210188	62815332	1910	104930											
SRXN1	140809	broad.mit.edu	37	chr20	629410	629410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccttaggtctgagagaGtggactggacaagcttggcg	14	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:629410G>A	uc002wea.2	-	2	423	c.362C>T	c.(361-363)ACT>ATT	p.T121I	SRXN1_uc002web.2_RNA	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1 homolog	121					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			ovary(1)	1						GTCTGAGAGAGTGGACTGGAC	0.597													A	629410	G	A	629410	3	1	191	1	0	0	0	0	1	0	0	0	15172	1029	36	4	55	4	SRXN1	20	629410	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	419222	629410	62396110	1911	104931											
SNPH	9751	broad.mit.edu	37	chr20	1277814	1277814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccacctgtgagcgtgCgggatgcctacggcacctct	11	16	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:1277814C>T	uc002wes.2	+	4	312	c.76C>T	c.(76-78)CGG>TGG	p.R26W	SNPH_uc002wet.2_Missense_Mutation_p.R70W	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	26					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						TGTGAGCGTGCGGGATGCCTA	0.637													T	1277814	C	T	1277814	3	4	191	1	0	0	0	0	1	0	0	0	14850	759	27	1	82	1	SNPH	20	1277814	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	648404	1277814	61747706	1912	104932											
CDC25B	994	broad.mit.edu	37	chr20	3783801	3783801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacatcgtggataagtTtgtgattgtagactgcagat	11	6	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:3783801T>C	uc002wjn.2	+	13	2082	c.1304T>C	c.(1303-1305)TTT>TCT	p.F435S	CDC25B_uc010zqk.1_Missense_Mutation_p.F371S|CDC25B_uc010zql.1_Missense_Mutation_p.F357S|CDC25B_uc010zqm.1_Missense_Mutation_p.F344S|CDC25B_uc002wjl.2_Missense_Mutation_p.F323S|CDC25B_uc002wjm.2_Missense_Mutation_p.F323S|CDC25B_uc002wjo.2_Missense_Mutation_p.F421S|CDC25B_uc002wjp.2_Missense_Mutation_p.F394S|CDC25B_uc002wjq.2_Missense_Mutation_p.F235S|CDC25B_uc010gbc.2_Missense_Mutation_p.F16S	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	435	Rhodanese.				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			lung(3)|ovary(2)	5						GTGGATAAGTTTGTGATTGTA	0.542													C	3783801	T	C	3783801	3	2	191	1	0	0	0	0	1	0	0	0	3063	1841	64	3	1354	3	CDC25B	20	3783801	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2505987	3783801	59241719	1913	104933											
MAVS	57506	broad.mit.edu	37	chr20	3844972	3844972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccagcccctggcccGttccacccccagggcaagcc	8	22	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:3844972G>A	uc002wjw.3	+	6	864	c.695G>A	c.(694-696)CGT>CAT	p.R232H	MAVS_uc002wjx.3_Missense_Mutation_p.R91H|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	232	Cytoplasmic (Probable).				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				0						CCCCTGGCCCGTTCCACCCCC	0.622													A	3844972	G	A	3844972	3	1	191	1	0	0	0	0	1	0	0	0	9338	1145	40	1	713	1	MAVS	20	3844972	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	61171	3844972	59180548	1914	104934											
SMOX	54498	broad.mit.edu	37	chr20	4164225	4164225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggctcctattcatacaCgcaggtgggctccagcgggg	14	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:4164225C>T	uc002wkm.1	+	6	1655	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	SMOX_uc002wkk.1_Missense_Mutation_p.T432M|SMOX_uc002wkl.1_Missense_Mutation_p.T432M|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.T485M|SMOX_uc010zqo.1_Missense_Mutation_p.T409M|SMOX_uc002wko.1_Missense_Mutation_p.T485M	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	485					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	TATTCATACACGCAGGTGGGC	0.612													T	4164225	C	T	4164225	3	4	191	1	0	0	0	0	1	0	0	0	14803	536	19	1	1472	1	SMOX	20	4164225	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	319253	4164225	58861295	1915	104935											
PRNP	5621	broad.mit.edu	37	chr20	4680491	4680491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttaagatgatggagcgcGtggttgagcagatgtgtatc	15	5	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:4680491G>A	uc002wku.2	+	2	988	c.625G>A	c.(625-627)GTG>ATG	p.V209M	PRNP_uc002wkv.2_Missense_Mutation_p.V209M|PRNP_uc002wkw.2_Missense_Mutation_p.V209M|PRNP_uc002wkx.2_Missense_Mutation_p.V209M|PRNP_uc002wkt.1_Missense_Mutation_p.V179M|PRNP_uc002wky.2_Missense_Mutation_p.V209M|PRNP_uc010gbe.1_Missense_Mutation_p.V209M	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	209	Interaction with GRB2, ERI3 and SYN1 (By similarity).				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(1)	1					Tetracycline(DB00759)	GATGGAGCGCGTGGTTGAGCA	0.532													A	4680491	G	A	4680491	3	1	191	1	0	0	0	0	1	0	0	0	12544	1145	40	1	627	1	PRNP	20	4680491	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	516266	4680491	58345029	1916	104936											
SLC23A2	9962	broad.mit.edu	37	chr20	4850638	4850638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagactcgatgatgctggcGaccacggcactgagcatgcc	12	12	0	3	rs147469332	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:4850638G>A	uc002wlg.1	-	12	1539	c.1164C>T	c.(1162-1164)GTC>GTT	p.V388V	SLC23A2_uc010zqr.1_Silent_p.V273V|SLC23A2_uc002wlh.1_Silent_p.V388V|SLC23A2_uc002wli.2_Silent_p.V387V	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	388	Helical; (Potential).				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			ovary(2)	2						TGATGCTGGCGACCACGGCAC	0.592													A	4850638	G	A	4850638	2	1	191	1	0	0	0	0	0	0	0	1	14463	1045	37	1		1	SLC23A2	20	4850638	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	170147	4850638	58174882	1917	104937											
BMP2	650	broad.mit.edu	37	chr20	6759236	6759236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggattcgtggtggaagtgGcccacttggaggagaaacaa	15	6	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:6759236G>T	uc002wmu.1	+	3	1476	c.691G>T	c.(691-693)GCC>TCC	p.A231S		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	231					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			ovary(1)|breast(1)	2					Simvastatin(DB00641)	GGTGGAAGTGGCCCACTTGGA	0.517													T	6759236	G	T	6759236	3	4	191	1	0	0	0	0	1	0	0	0	1459	1203	42	5	697	5	BMP2	20	6759236	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1908598	6759236	56266284	1918	104938											
PAK7	57144	broad.mit.edu	37	chr20	9520201	9520201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgaggagttcctgggctgTtgctctctgagagggctccc	14	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:9520201T>C	uc002wnl.2	-	11	2613	c.2068A>G	c.(2068-2070)ACA>GCA	p.T690A	PAK7_uc002wnk.2_Missense_Mutation_p.T690A|PAK7_uc002wnj.2_Missense_Mutation_p.T690A|PAK7_uc010gby.1_Missense_Mutation_p.T603A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	690	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			TCCTGGGCTGTTGCTCTCTGA	0.507													C	9520201	T	C	9520201	3	2	191	1	0	0	0	0	1	0	0	0	11405	1725	60	3	95	3	PAK7	20	9520201	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2760965	9520201	53505319	1919	104939											
SPTLC3	55304	broad.mit.edu	37	chr20	13140675	13140676	+	Frame_Shift_Ins	INS	-	-	A													tgcaaggcatatgctagagaINSaaaaaattggagtggtggtc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:13140674_13140675G>GA	uc002wod.1	+	10	1729_1730	c.1440_1441G>GA	c.(1438-1443)gagaaafs	p.E480fs		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	480					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.E480D(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATATGCTAGAGAAAAAAATTGG	0.431													A	13140676	-	A	13140675	7	5	191	1	0	1	1	0	0	0	0	0	15124	247	9	0	1483	0	SPTLC3	20	13140675	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	3620474	13140675	49884845	1920	104940											
KIF16B	55614	broad.mit.edu	37	chr20	16360401	16360401	+	Frame_Shift_Del	DEL	T	T	-													tctcctgctcctctagtctcTttttttccagttcaagcttg					rs76323917		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:16360400_16360400CT>C	uc002wpg.2	-	18	2406	c.2247_2247AG>G	c.(2245-2247)aagfs	p.K749fs	KIF16B_uc002wpe.1_Frame_Shift_Del_p.K131fs|KIF16B_uc002wpf.1_Frame_Shift_Del_p.K131fs|KIF16B_uc010gch.2_Frame_Shift_Del_p.K749fs|KIF16B_uc010gci.2_Frame_Shift_Del_p.K749fs|KIF16B_uc010gcj.2_Frame_Shift_Del_p.K760fs	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	749	Glu-rich.				Golgi to endosome transport|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|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	p.K749fs*3(1)		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						CCTCTAGTCTCTTTTTTTCCA	0.502													-	16360401	T	-	16360401	7	5	191	1	0	1	0	1	0	0	0	0	8278	1609	56	0	1739	0	KIF16B	20	16360401	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	3219726	16360401	46665119	1921	104941											
PCSK2	5126	broad.mit.edu	37	chr20	17417441	17417441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgattgacatctacagCgccagctggggccccacaga	11	14	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:17417441C>T	uc002wpm.2	+	8	1118	c.798C>T	c.(796-798)AGC>AGT	p.S266S	PCSK2_uc002wpl.2_Silent_p.S247S|PCSK2_uc010zrm.1_Silent_p.S231S	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	266	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATCTACAGCGCCAGCTGGG	0.612													T	17417441	C	T	17417441	2	4	191	1	0	0	0	0	0	0	0	1	11601	767	27	1		1	PCSK2	20	17417441	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1057040	17417441	45608079	1922	104942											
RALGAPA2	57186	broad.mit.edu	37	chr20	20586055	20586055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccaagctaccatgagcGtctaaaaccaaccaaccaac	6	14	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:20586055G>A	uc002wrz.2	-	15	1945	c.1802C>T	c.(1801-1803)ACG>ATG	p.T601M	RALGAPA2_uc010gcx.2_Missense_Mutation_p.T305M|RALGAPA2_uc010zsg.1_Missense_Mutation_p.T2M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	601					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TACCATGAGCGTCTAAAACCA	0.393													A	20586055	G	A	20586055	3	1	191	1	0	0	0	0	1	0	0	0	13014	1159	40	1	3919	1	RALGAPA2	20	20586055	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3168614	20586055	42439465	1923	104943											
TPX2	22974	broad.mit.edu	37	chr20	30370135	30370135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccaaacaccgtgcacggGctgtgacctgcaaaagtaca	9	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:30370135G>A	uc002wwp.1	+	11	1836	c.1138G>A	c.(1138-1140)GCT>ACT	p.A380T	TPX2_uc010gdv.1_Missense_Mutation_p.A416T	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	380					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCGTGCACGGGCTGTGACCTG	0.507													A	30370135	G	A	30370135	3	1	191	1	0	0	0	0	1	0	0	0	16429	1203	42	2	1172	2	TPX2	20	30370135	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	9784080	30370135	32655385	1924	104944											
NCOA6	23054	broad.mit.edu	37	chr20	33331070	33331070	+	Frame_Shift_Del	DEL	G	G	-													gctgctgtggtggctgtggtGggggtgccacatgctgcatg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:33331069_33331069TG>T	uc002xav.3	-	11	5562	c.2991_2991CA>A	c.(2989-2991)ccafs	p.P997fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P997fs|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Frame_Shift_Del_p.P997fs|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	997	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|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						GTGGCTGTGGTGGGGGTGCCA	0.582													-	33331070	G	-	33331070	7	5	191	1	0	1	0	1	0	0	0	0	10233	1348	47	0	3221	0	NCOA6	20	33331070	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2960935	33331070	29694450	1925	104945											
MYH7B	57644	broad.mit.edu	37	chr20	33582173	33582175	+	In_Frame_Del	DEL	AGA	AGA	-													gcacgtcagcatcacccaggAgaagaatgacctggccctgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:33582172_33582174GAGA>G	uc002xbi.2	+	26	3111_3113	c.2794_2796GAGA>G	c.(2794-2796)gag>G	p.E932del		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	890						membrane|myosin filament	ATP binding|actin 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)			CATCACCCAGGAGAAGAATGACC	0.69													-	33582175	AGA	-	33582173	7	5	191	1	0	1	0	1	0	0	0	0	10040	304	11	0	2893	0	MYH7B	20	33582173	In_Frame_Del	DEL	AGA	TCGA-CG-5723-01A-11D-1600-08	251103	33582173	29443347	1926	104946											
GDF5	8200	broad.mit.edu	37	chr20	34025211	34025212	+	Frame_Shift_Ins	INS	-	-	G													tgtactcgtggggtgtgatgINSgggggtgggcgaaacggctc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:34025210_34025211T>TG	uc010gfc.1	-	0	739_740	c.498_499A>CA	c.(496-501)cccatcfs	p.P166fs	GDF5_uc002xck.1_Frame_Shift_Ins_p.P166fs	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	166					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)			TGGGGTGTGATGGGGGGTGGGC	0.634													G	34025212	-	G	34025211	7	5	191	1	0	1	1	0	0	0	0	0	6316	1335	47	0	1015	0	GDF5	20	34025211	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	443038	34025211	29000309	1927	104947											
MYL9	10398	broad.mit.edu	37	chr20	35176475	35176475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggagggcatgatgagCgaggccccggggcccatcaa	15	12	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:35176475C>T	uc002xfl.1	+	3	319	c.225C>T	c.(223-225)AGC>AGT	p.S75S	uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	75					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGATGAGCGAGGCCCCGG	0.612													T	35176475	C	T	35176475	2	4	191	1	0	0	0	0	0	0	0	1	10054	767	27	1		1	MYL9	20	35176475	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1151264	35176475	27849045	1928	104948											
DHX35	60625	broad.mit.edu	37	chr20	37638972	37638972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggttcctgagatgcagcgTagtaatttggcacctgtcat	11	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:37638972T>C	uc002xjh.2	+	13	1283	c.1272T>C	c.(1270-1272)CGT>CGC	p.R424R	DHX35_uc010zwa.1_Silent_p.R269R|DHX35_uc010zwb.1_Silent_p.R269R|DHX35_uc010zwc.1_Silent_p.R393R	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	424	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGATGCAGCGTAGTAATTTGG	0.488													C	37638972	T	C	37638972	2	2	191	1	0	0	0	0	0	0	0	1	4508	1625	57	3		3	DHX35	20	37638972	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2462497	37638972	25386548	1929	104949											
PTPRT	11122	broad.mit.edu	37	chr20	41306614	41306614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacatcggggtccagatGccacagcttatagttgggag	12	10	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:41306614G>A	uc002xkg.2	-	7	1229	c.1045C>T	c.(1045-1047)CAT>TAT	p.H349Y	PTPRT_uc010ggj.2_Missense_Mutation_p.H349Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	349	Extracellular (Potential).|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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTCCAGATGCCACAGCTTA	0.602													A	41306614	G	A	41306614	3	1	191	1	0	0	0	0	1	0	0	0	12812	1319	46	2	3441	2	PTPRT	20	41306614	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3667642	41306614	21718906	1930	104950											
SGK2	10110	broad.mit.edu	37	chr20	42195105	42195105	+	Frame_Shift_Del	DEL	C	C	-													tcatgcctgctcctccctgtCcccccagagctgcctgatca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:42195104_42195104TC>T	uc002xkv.3	+	0	368	c.149_149TC>T	c.(148-150)gtcfs	p.V50fs	SGK2_uc002xkr.3_Intron|SGK2_uc010ggm.3_Intron|SGK2_uc002xkt.3_Intron|SGK2_uc002xku.3_Intron|SGK2_uc002xkq.1_Intron	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	50					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)			CTCCTCCCTGTCCCCCCAGAG	0.612													-	42195105	C	-	42195105	7	5	191	1	0	1	0	1	0	0	0	0	14209	842	30	0	152	0	SGK2	20	42195105	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	888491	42195105	20830415	1931	104951											
MYBL2	4605	broad.mit.edu	37	chr20	42302493	42302493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacagattcagatgtgcCggagcagagggatagcaagt	15	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:42302493C>T	uc002xlb.1	+	2	283	c.68C>T	c.(67-69)CCG>CTG	p.P23L	MYBL2_uc010zwj.1_Missense_Mutation_p.P23L|MYBL2_uc002xla.1_Missense_Mutation_p.P23L	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGATGTGCCGGAGCAGAGG	0.542													T	42302493	C	T	42302493	3	4	191	1	0	0	0	0	1	0	0	0	10010	652	23	1	74	1	MYBL2	20	42302493	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	107388	42302493	20723027	1932	104952											
JPH2	57158	broad.mit.edu	37	chr20	42788479	42788479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggttgtccagccactcGccctcgtagcggaggccact	12	16	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:42788479G>A	uc002xli.1	-	2	1821	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	316	MORN 8.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCCACTCGCCCTCGTAGC	0.662													A	42788479	G	A	42788479	2	1	191	1	0	0	0	0	0	0	0	1	7961	1074	38	1		1	JPH2	20	42788479	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	485986	42788479	20237041	1933	104953											
HNF4A	3172	broad.mit.edu	37	chr20	43057109	43057109	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagatgtgtgagtggcccCgacccaggggacaggcaggt	17	10	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:43057109C>T	uc002xma.2	+	9	1353	c.1264C>T	c.(1264-1266)CGA>TGA	p.R422*	HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Nonsense_Mutation_p.R400*|HNF4A_uc002xlz.2_Intron|HNF4A_uc010ggq.2_Nonsense_Mutation_p.R415*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	422					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			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGAGTGGCCCCGACCCAGGGG	0.557													T	43057109	C	T	43057109	4	4	191	1	0	0	0	0	0	1	0	0	7253	644	23	1	1476	1	HNF4A	20	43057109	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	268630	43057109	19968411	1934	104954											
PIGT	51604	broad.mit.edu	37	chr20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-													gatatttctttacacagaggCccccccagtgcccttcctgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:44050025_44050025GC>G	uc002xoh.2	+	8	1126	c.1036_1036GC>G	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Del_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Del_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Del_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Del_p.A22fs	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	346					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	p.A346A(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGT	0.572													-	44050026	C	-	44050026	7	5	191	1	0	1	0	1	0	0	0	0	11899	739	26	0	1071	0	PIGT	20	44050026	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	992917	44050026	18975494	1935	104955											
CTSA	5476	broad.mit.edu	37	chr20	44523668	44523668	+	Frame_Shift_Del	DEL	C	C	-													ggggataaagtgcgcatggaCcccccctgcaccaacacaac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:44523667_44523667AC>A	uc002xqh.3	+	10	1411	c.1037_1037AC>A	c.(1036-1038)gacfs	p.D346fs	CTSA_uc002xqj.4_Frame_Shift_Del_p.D328fs|CTSA_uc010zxi.2_Frame_Shift_Del_p.D329fs|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	328					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)				GTGCGCATGGACCCCCCCTGC	0.637													-	44523668	C	-	44523668	7	5	191	1	0	1	0	1	0	0	0	0	4029	506	18	0	1080	0	CTSA	20	44523668	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	473642	44523668	18501852	1936	104956											
SLC12A5	57468	broad.mit.edu	37	chr20	44673727	44673727	+	Frame_Shift_Del	DEL	C	C	-													gctgcagagcctcacgggggCcccacgcctgctgcaggcca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:44673726_44673726GC>G	uc010zxl.1	+	11	1661	c.1585_1585GC>G	c.(1585-1587)gccfs	p.A529fs	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Frame_Shift_Del_p.A506fs	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	529					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)	CCTCACGGGGGCCCCACGCCT	0.632													-	44673727	C	-	44673727	7	5	191	1	0	1	0	1	0	0	0	0	14386	739	26	0	1688	0	SLC12A5	20	44673727	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	150059	44673727	18351793	1937	104957											
ZNF334	55713	broad.mit.edu	37	chr20	45140720	45140720	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatccctgagcaacttaCctgaaattttttcattttca	4	9	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:45140720C>T	uc002xsc.2	-	2	205	c.21_splice	c.e2+1	p.Q7_splice	ZNF334_uc002xsd.2_Splice_Site|ZNF334_uc010ghl.2_Splice_Site	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GAGCAACTTACCTGAAATTTT	0.378													T	45140720	C	T	45140720	5	4	191	1	0	0	0	0	0	0	1	0	17848	521	18	4	2036	4	ZNF334	20	45140720	Splice_Site	SNP	C	TCGA-CG-5723-01A-11D-1600-08	466993	45140720	17884800	1938	104958											
DDX27	55661	broad.mit.edu	37	chr20	47845427	47845427	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacctgcctggctgtgggTgagtttctggccaagggctg	15	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:47845427T>C	uc002xuh.2	+	8	1034	c.973_splice	c.e8+2	p.G325_splice		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGCTGTGGGTGAGTTTCTGG	0.622													C	47845427	T	C	47845427	5	2	191	1	0	0	0	0	0	0	1	0	4354	1710	59	3	1005	3	DDX27	20	47845427	Splice_Site	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2704707	47845427	15180093	1939	104959											
FAM65C	140876	broad.mit.edu	37	chr20	49214161	49214161	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggacagctcatccagggcGaagtcggcattgaggaaggc	16	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:49214161G>A	uc002xvm.2	-	14	2052	c.1734C>T	c.(1732-1734)TTC>TTT	p.F578F	FAM65C_uc010zyt.1_Silent_p.F582F|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.F578F	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	578										ovary(2)	2						CATCCAGGGCGAAGTCGGCAT	0.647													A	49214161	G	A	49214161	2	1	191	1	0	0	0	0	0	0	0	1	5601	1049	37	1		1	FAM65C	20	49214161	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1368734	49214161	13811359	1940	104960											
MOCS3	27304	broad.mit.edu	37	chr20	49576679	49576679	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttatcagcagctcaagagTtagaccctttaacagttcgg	8	11	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:49576679T>C	uc002xvy.1	+	1	1317	c.1300T>C	c.(1300-1302)TTA>CTA	p.L434L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	434	Rhodanese.				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			skin(2)|ovary(1)	3						AGCTCAAGAGTTAGACCCTTT	0.493													C	49576679	T	C	49576679	2	2	191	1	0	0	0	0	0	0	0	1	9692	1722	60	3		3	MOCS3	20	49576679	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	362518	49576679	13448841	1941	104961											
KCNG1	3755	broad.mit.edu	37	chr20	49626567	49626567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgtagtcatcgcacacGttgaggatgtcgtcgaagtt	12	9	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:49626567G>A	uc002xwa.3	-	2	604	c.309C>T	c.(307-309)AAC>AAT	p.N103N	KCNG1_uc002xwb.2_Silent_p.N103N	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	103	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CATCGCACACGTTGAGGATGT	0.637													A	49626567	G	A	49626567	2	1	191	1	0	0	0	0	0	0	0	1	8027	1136	40	1		1	KCNG1	20	49626567	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	49888	49626567	13398953	1942	104962											
ZFP64	55734	broad.mit.edu	37	chr20	50701761	50701761	+	Frame_Shift_Del	DEL	T	T	-													ccttttcaagtccgagctgaTtttgaacttggcgctacaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50701760_50701760AT>A	uc002xwk.3	-	8	1623	c.1274_1274AT>T	c.(1273-1275)atcfs	p.I425fs	ZFP64_uc002xwj.3_Frame_Shift_Del_p.I206fs	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	382			F -> Y (in dbSNP:rs16996517).		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						GTCCGAGCTGATTTTGAACTT	0.532													-	50701761	T	-	50701761	7	5	191	1	0	1	0	1	0	0	0	0	17649	1493	52	0	668	0	ZFP64	20	50701761	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	1075194	50701761	12323759	1943	104963											
ZFP64	55734	broad.mit.edu	37	chr20	50768821	50768821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtggccactgcgatgTtctggcctccatcgctcacc	11	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50768821T>C	uc002xwl.2	-	6	2259	c.1910A>G	c.(1909-1911)AAC>AGC	p.N637S	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.N635S|ZFP64_uc002xwn.2_Missense_Mutation_p.N583S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CACTGCGATGTTCTGGCCTCC	0.547													C	50768821	T	C	50768821	3	2	191	1	0	0	0	0	1	0	0	0	17649	1725	60	3	1330	3	ZFP64	20	50768821	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	67060	50768821	12256699	1944	104964											
ZFP64	55734	broad.mit.edu	37	chr20	50769100	50769100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgatcagactgacctggCgcaggatctgcagccggctg	16	12	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50769100C>T	uc002xwl.2	-	6	1980	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.R542H|ZFP64_uc002xwn.2_Missense_Mutation_p.R490H	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTGACCTGGCGCAGGATCTG	0.682													T	50769100	C	T	50769100	3	4	191	1	0	0	0	0	1	0	0	0	17649	768	27	1	1609	1	ZFP64	20	50769100	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	279	50769100	12256420	1945	104965											
ZFP64	55734	broad.mit.edu	37	chr20	50769117	50769117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcaggatctgcagccgGctgttccctgggagttcctc	14	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50769117G>T	uc002xwl.2	-	6	1963	c.1614C>A	c.(1612-1614)AGC>AGA	p.S538R	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.S536R|ZFP64_uc002xwn.2_Missense_Mutation_p.S484R	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TCTGCAGCCGGCTGTTCCCTG	0.682													T	50769117	G	T	50769117	3	4	191	1	0	0	0	0	1	0	0	0	17649	1194	42	5	1626	5	ZFP64	20	50769117	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	17	50769117	12256403	1946	104966											
CBLN4	140689	broad.mit.edu	37	chr20	54579052	54579052	+	Frame_Shift_Del	DEL	G	G	-													cccggaccgatatccccagcGgggaggaagaggagcccttg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:54579051_54579051CG>C	uc002xxa.3	-	0	962	c.177_177CG>G	c.(175-177)ccgfs	p.P59fs		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	59						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			ATATCCCCAGCGGGGAGGAAG	0.652													-	54579052	G	-	54579052	7	5	191	1	0	1	0	1	0	0	0	0	2707	1116	39	0	441	0	CBLN4	20	54579052	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	3809935	54579052	8446468	1947	104967											
CSTF1	1477	broad.mit.edu	37	chr20	54978560	54978560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccaggtgcaccggacacAggctgtgtttaaccacaccg	11	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:54978560A>G	uc002xxl.1	+	6	1273	c.1073A>G	c.(1072-1074)CAG>CGG	p.Q358R	CSTF1_uc002xxm.1_Missense_Mutation_p.Q358R|CSTF1_uc002xxn.1_Missense_Mutation_p.Q358R|CSTF1_uc002xxo.1_Missense_Mutation_p.Q301R	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	358					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			CACCGGACACAGGCTGTGTTT	0.562													G	54978560	A	G	54978560	3	3	191	1	0	0	0	0	1	0	0	0	3983	188	7	3	1091	3	CSTF1	20	54978560	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	399508	54978560	8046960	1948	104968											
NPEPL1	79716	broad.mit.edu	37	chr20	57290340	57290340	+	Frame_Shift_Del	DEL	G	G	-													tgtgaggtggatgtcgaggaGggggacctggggagggactc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:57290340delG	uc010zzs.1	+	12	1625	c.1530delG	c.(1528-1530)GAGfs	p.E510fs	NPEPL1_uc010zzr.1_Frame_Shift_Del_p.E462fs|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Frame_Shift_Del_p.E482fs|NPEPL1_uc002xzp.2_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	510					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ATGTCGAGGAGGGGGACCTGG	0.617													-	57290340	G	-	57290340	7	5	191	1	0	1	0	1	0	0	0	0	10574	991	35	0	1422	0	NPEPL1	20	57290340	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	2311780	57290340	5735180	1949	104969											
TH1L	51497	broad.mit.edu	37	chr20	57564987	57564987	+	Frame_Shift_Del	DEL	G	G	-													gtgctggcccaggaggagcaGgggggctccgctgtgcgcag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:57564986_57564986AG>A	uc002yag.3	+	6	785	c.758_758AG>A	c.(757-759)cagfs	p.Q253fs	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	253					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			CAGGAGGAGCAGGGGGGCTCC	0.632													-	57564987	G	-	57564987	7	5	191	1	0	1	0	1	0	0	0	0	15836	991	35	0	785	0	TH1L	20	57564987	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	274647	57564987	5460533	1950	104970											
CDH4	1002	broad.mit.edu	37	chr20	60348097	60348097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtggctctggacccctcTccgcctccgaaggacaccct	10	18	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:60348097T>C	uc002ybn.1	+	4	449	c.435T>C	c.(433-435)TCT>TCC	p.S145S	CDH4_uc002ybp.1_Silent_p.S71S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	145					adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGACCCCTCTCCGCCTCCGA	0.597													C	60348097	T	C	60348097	2	2	191	1	0	0	0	0	0	0	0	1	3112	1538	54	3		3	CDH4	20	60348097	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2783110	60348097	2677423	1951	104971											
CDH4	1002	broad.mit.edu	37	chr20	60498692	60498692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatccgcctggaggagggcGtgccccccggcaccgtgctg	16	15	0	1	rs148441133	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:60498692G>A	uc002ybn.1	+	10	1572	c.1558G>A	c.(1558-1560)GTG>ATG	p.V520M	CDH4_uc002ybp.1_Missense_Mutation_p.V446M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	520	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGAGGGCGTGCCCCCCGG	0.627													A	60498692	G	A	60498692	3	1	191	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1596	1	CDH4	20	60498692	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	150595	60498692	2526828	1952	104972											
GTPBP5	26164	broad.mit.edu	37	chr20	60770906	60770906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgtctgtggaggaaacGgaggcgctggggcaagctgc	18	8	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:60770906G>A	uc002yce.3	+	3	291	c.253G>A	c.(253-255)GGA>AGA	p.G85R	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Missense_Mutation_p.G85R|GTPBP5_uc011aag.1_Missense_Mutation_p.G85R	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	85	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			TGGAGGAAACGGAGGCGCTGG	0.547													A	60770906	G	A	60770906	3	1	191	1	0	0	0	0	1	0	0	0	6883	1117	39	1	259	1	GTPBP5	20	60770906	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	272214	60770906	2254614	1953	104973											
DIDO1	11083	broad.mit.edu	37	chr20	61510982	61510982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctcctgtcctcggacGcccggccctgggcgtcgggc	13	19	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61510982G>A	uc002ydr.1	-	16	6590	c.6326C>T	c.(6325-6327)GCG>GTG	p.A2109V	DIDO1_uc002yds.1_Missense_Mutation_p.A2109V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2109	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GTCCTCGGACGCCCGGCCCTG	0.428													A	61510982	G	A	61510982	3	1	191	1	0	0	0	0	1	0	0	0	4522	1087	38	1	400	1	DIDO1	20	61510982	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	740076	61510982	1514538	1954	104974											
DIDO1	11083	broad.mit.edu	37	chr20	61512957	61512957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacggagttccttctcacgtCggcacacatcctgttgggca	10	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61512957C>A	uc002ydr.1	-	16	4615	c.4351G>T	c.(4351-4353)GAC>TAC	p.D1451Y	DIDO1_uc002yds.1_Missense_Mutation_p.D1451Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1451					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTTCTCACGTCGGCACACATC	0.597													A	61512957	C	A	61512957	3	1	191	1	0	0	0	0	1	0	0	0	4522	884	31	5	2375	5	DIDO1	20	61512957	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1975	61512957	1512563	1955	104975											
NKAIN4	128414	broad.mit.edu	37	chr20	61881322	61881322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccggtactggatggtgcCgaagagtcccaggatgacga	15	10	0	2	rs147137550	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61881322C>A	uc002yek.2	-	2	247	c.157G>T	c.(157-159)GGC>TGC	p.G53C	NKAIN4_uc010gkd.1_5'UTR	NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	53	Helical; (Potential).					integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)					TGGATGGTGCCGAAGAGTCCC	0.622													A	61881322	C	A	61881322	3	1	191	1	0	0	0	0	1	0	0	0	10438	652	23	5	493	5	NKAIN4	20	61881322	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	368365	61881322	1144198	1956	104976											
ARFGAP1	55738	broad.mit.edu	37	chr20	61907543	61907543	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacaccgcgggcttggggTtcacctcaggtcagtgtcct	14	12	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61907543T>G	uc002yem.2	+	3	273	c.161T>G	c.(160-162)GTT>GGT	p.V54G	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.V54G|ARFGAP1_uc002yen.2_Missense_Mutation_p.V54G	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	54	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					GGGCTTGGGGTTCACCTCAGG	0.617													G	61907543	T	G	61907543	3	3	191	1	0	0	0	0	1	0	0	0	849	1725	60	5	167	5	ARFGAP1	20	61907543	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	26221	61907543	1117977	1957	104977											
COL20A1	57642	broad.mit.edu	37	chr20	61939423	61939423	+	Frame_Shift_Del	DEL	G	G	-													gtgcgccgcctccgctacaaGggggggaacacgttcacagg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61939422_61939422AG>A	uc011aau.2	+	6	855	c.755_755AG>A	c.(754-756)aagfs	p.K252fs	COL20A1_uc011aav.2_Frame_Shift_Del_p.K73fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	252	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity	p.K252N(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCCGCTACAAGGGGGGGAAC	0.647													-	61939423	G	-	61939423	7	5	191	1	0	1	0	1	0	0	0	0	3679	991	35	0	778	0	COL20A1	20	61939423	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	31880	61939423	1086097	1958	104978											
PRIC285	85441	broad.mit.edu	37	chr20	62194495	62194495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctcggtaccaggaagcCgtgctgcaggctggtgccga	17	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:62194495C>T	uc002yfm.2	-	9	6572	c.5680G>A	c.(5680-5682)GGC>AGC	p.G1894S	PRIC285_uc002yfl.1_Missense_Mutation_p.G1325S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1894					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			ACCAGGAAGCCGTGCTGCAGG	0.692													T	62194495	C	T	62194495	3	4	191	1	0	0	0	0	1	0	0	0	12485	652	23	1	2317	1	PRIC285	20	62194495	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	255072	62194495	831025	1959	104979											
RTEL1	51750	broad.mit.edu	37	chr20	62321137	62321137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggtaccggcagcaggCgtccagggctgtgaaccagg	18	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:62321137C>T	uc002yfu.1	+	24	2403	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.A687V|RTEL1_uc011abd.1_Missense_Mutation_p.A711V|RTEL1_uc011abe.1_Missense_Mutation_p.A464V|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	687					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				0	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)			CGGCAGCAGGCGTCCAGGGCT	0.692													T	62321137	C	T	62321137	3	4	191	1	0	0	0	0	1	0	0	0	13720	768	27	1	2150	1	RTEL1	20	62321137	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	126642	62321137	704383	1960	104980											
ZNF512B	57473	broad.mit.edu	37	chr20	62591325	62591325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcctggaggccagtcGtcccggcgcgggggcagctt	16	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:62591325G>A	uc002yhl.1	-	17	2649	c.2595C>T	c.(2593-2595)GAC>GAT	p.D865D		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGCCAGTCGTCCCGGCGCG	0.657													A	62591325	G	A	62591325	2	1	191	1	0	0	0	0	0	0	0	1	17954	1136	40	1		1	ZNF512B	20	62591325	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	270188	62591325	434195	1961	104981											
APP	351	broad.mit.edu	37	chr21	27425591	27425591	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagatgagtttcgcaAacatccatcctctcctggtg	9	11	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:27425591A>C	uc002ylz.2	-	4	629	c.429T>G	c.(427-429)GTT>GTG	p.V143V	APP_uc010glk.2_Silent_p.V138V|APP_uc002yma.2_Silent_p.V143V|APP_uc011ach.1_Silent_p.V87V|APP_uc002ymb.2_Silent_p.V143V|APP_uc010glj.2_Silent_p.V87V|APP_uc011aci.1_Silent_p.V108V|APP_uc011acj.1_Silent_p.V143V	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	143	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				GAGTTTCGCAAACATCCATCC	0.453													C	27425591	A	C	27425591	2	2	191	1	0	0	0	0	0	0	0	1	815	1	1	5		5	APP	21	27425591	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08		27425591	20704304	1962	104982											
ADAMTS5	11096	broad.mit.edu	37	chr21	28305340	28305340	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccccaggatccccaagaTccccagttgccatggcttga	10	15	0	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:28305340T>C	uc002ymg.2	-	5	2442	c.1713A>G	c.(1711-1713)GGA>GGG	p.G571G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	571	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATCCCCAAGATCCCCAGTTGC	0.463													C	28305340	T	C	28305340	2	2	191	1	0	0	0	0	0	0	0	1	269	1422	50	3		3	ADAMTS5	21	28305340	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	879749	28305340	19824555	1963	104983											
RNF160	26046	broad.mit.edu	37	chr21	30324485	30324485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttaaataagaataccttTcttttctcttataatgtggt	4	5	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:30324485T>C	uc002ymr.2	-	18	3492	c.3479A>G	c.(3478-3480)GAA>GGA	p.E1160G		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1114							ligase activity|zinc ion binding				0						AGAATACCTTTCTTTTCTCTT	0.323													C	30324485	T	C	30324485	3	2	191	1	0	0	0	0	1	0	0	0	13455	1783	62	3	2011	3	RNF160	21	30324485	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2019145	30324485	17805410	1964	104984											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874344	31874344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacagccatagccatagCccaggtcatcgaagcctccg	8	16	1	0	rs150866063		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:31874344C>T	uc011ada.1	-	1	65	c.65G>A	c.(64-66)GGC>GAC	p.G22D		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	22						intermediate filament	protein binding				0						ATAGCCATAGCCCAGGTCATC	0.582													T	31874344	C	T	31874344	3	4	191	1	0	0	0	0	1	0	0	0	8532	739	26	2	156	2	KRTAP19-5	21	31874344	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1549859	31874344	16255551	1965	104985											
TIAM1	7074	broad.mit.edu	37	chr21	32513434	32513434	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagatggggaccctcAcctcttttttctcaccagtc	8	13	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:32513434A>G	uc002yow.1	-	23	4246	c.3774_splice	c.e23+1	p.E1258_splice	TIAM1_uc011adk.1_Splice_Site_p.E1258_splice|TIAM1_uc011adl.1_Splice_Site_p.E1198_splice	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 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	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						GGGGACCCTCACCTCTTTTTT	0.393													G	32513434	A	G	32513434	5	3	191	1	0	0	0	0	0	0	1	0	15887	173	6	3	1027	3	TIAM1	21	32513434	Splice_Site	SNP	A	TCGA-CG-5723-01A-11D-1600-08	639090	32513434	15616461	1966	104986											
TIAM1	7074	broad.mit.edu	37	chr21	32582396	32582396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggtgtcccgtgcagtgtCgcctggccggacgaccgtca	15	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:32582396C>T	uc002yow.1	-	12	2825	c.2353G>A	c.(2353-2355)GAC>AAC	p.D785N	TIAM1_uc011adk.1_Missense_Mutation_p.D785N|TIAM1_uc011adl.1_Missense_Mutation_p.D760N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	785	RBD.				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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CGTGCAGTGTCGCCTGGCCGG	0.547													T	32582396	C	T	32582396	3	4	191	1	0	0	0	0	1	0	0	0	15887	884	31	1	2494	1	TIAM1	21	32582396	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	68962	32582396	15547499	1967	104987											
SFRS15	57466	broad.mit.edu	37	chr21	33044413	33044413	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccaccaggcctaacaaAggggccatgcggtgggaagg	14	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:33044413A>C	uc002ypd.2	-	20	3169	c.2743T>G	c.(2743-2745)TTT>GTT	p.F915V	SFRS15_uc002ype.2_Missense_Mutation_p.F893V|SFRS15_uc010glu.2_Missense_Mutation_p.F900V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	915						nucleus	nucleotide binding|RNA binding				0						GGCCTAACAAAGGGGCCATGC	0.577													C	33044413	A	C	33044413	3	2	191	1	0	0	0	0	1	0	0	0	14171	72	3	5	704	5	SFRS15	21	33044413	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	462017	33044413	15085482	1968	104988											
HUNK	30811	broad.mit.edu	37	chr21	33340661	33340661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttaatgagaattacaCgggcaaagtgccctgtaatg	11	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:33340661C>T	uc002yph.2	+	6	1334	c.974C>T	c.(973-975)ACG>ATG	p.T325M		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	325					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						GAGAATTACACGGGCAAAGTG	0.547													T	33340661	C	T	33340661	3	4	191	1	0	0	0	0	1	0	0	0	7458	536	19	1	996	1	HUNK	21	33340661	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	296248	33340661	14789234	1969	104989											
CRYZL1	9946	broad.mit.edu	37	chr21	34971554	34971554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatacatcaatcactcggGctgtaaaggacaggaaatca	9	8	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:34971554G>A	uc011adw.1	-	9	758	c.578C>T	c.(577-579)GCC>GTC	p.A193V	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.A217V|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	193					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AATCACTCGGGCTGTAAAGGA	0.388													A	34971554	G	A	34971554	3	1	191	1	0	0	0	0	1	0	0	0	3923	1217	42	2	491	2	CRYZL1	21	34971554	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1630893	34971554	13158341	1970	104990											
ITSN1	6453	broad.mit.edu	37	chr21	35169896	35169896	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaagccagctgtccaggcAccctggtccactgcaggtat	11	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:35169896A>C	uc002yta.1	+	18	2434	c.2166A>C	c.(2164-2166)GCA>GCC	p.A722A	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.A722A|ITSN1_uc010gmg.2_Silent_p.A685A|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.A722A|ITSN1_uc010gmi.2_Silent_p.A685A|ITSN1_uc010gmj.2_Silent_p.A606A|ITSN1_uc002ysy.2_Silent_p.A722A|ITSN1_uc002ysx.2_Silent_p.A685A|ITSN1_uc002ytb.1_Silent_p.A722A|ITSN1_uc002ytc.1_Silent_p.A722A|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.A685A|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.A722A|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.A656A	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	722					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			ovary(3)|skin(1)	4						CTGTCCAGGCACCCTGGTCCA	0.463													C	35169896	A	C	35169896	2	2	191	1	0	0	0	0	0	0	0	1	7926	146	6	5		5	ITSN1	21	35169896	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	198342	35169896	12959999	1971	104991											
RUNX1	861	broad.mit.edu	37	chr21	36252918	36252918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggttcttcatggctgcGgtagcatttctcagctcagc	10	12	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:36252918G>A	uc002yuh.2	-	2	1941	c.363C>T	c.(361-363)ACC>ACT	p.T121T	RUNX1_uc002yui.2_Silent_p.T121T|RUNX1_uc010gmu.2_Silent_p.T148T|RUNX1_uc010gmv.2_Silent_p.T148T|RUNX1_uc002yuj.3_Silent_p.T16T|RUNX1_uc002yuk.3_Silent_p.T148T|RUNX1_uc002yum.1_Silent_p.T16T|RUNX1_uc010gmw.1_Silent_p.T148T|RUNX1_uc002yuo.1_Silent_p.T121T|RUNX1_uc002yur.1_Silent_p.T16T	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	121	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L121fs*2(1)|p.A149fs*2(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						TCATGGCTGCGGTAGCATTTC	0.483			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				A	36252918	G	A	36252918	2	1	191	1	0	0	0	0	0	0	0	1	13746	1103	39	1		1	RUNX1	21	36252918	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1083022	36252918	11876977	1972	104992											
CHAF1B	8208	broad.mit.edu	37	chr21	37788576	37788576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgttaatgttgcagagaCgcctggagacgctcagggca	14	8	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:37788576C>T	uc002yvj.2	+	14	1730	c.1592C>T	c.(1591-1593)ACG>ATG	p.T531M		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	531					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			ovary(1)|skin(1)	2						GTTGCAGAGACGCCTGGAGAC	0.488													T	37788576	C	T	37788576	3	4	191	1	0	0	0	0	1	0	0	0	3312	536	19	1	1642	1	CHAF1B	21	37788576	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1535658	37788576	10341319	1973	104993											
KCNJ15	3772	broad.mit.edu	37	chr21	39671314	39671314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagaattgacaaagtggAtggcatatacctactctacc	9	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:39671314A>G	uc002ywv.2	+	4	433	c.131A>G	c.(130-132)GAT>GGT	p.D44G	KCNJ15_uc002yww.2_Missense_Mutation_p.D44G|KCNJ15_uc002ywx.2_Missense_Mutation_p.D44G	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	44	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						GACAAAGTGGATGGCATATAC	0.537													G	39671314	A	G	39671314	3	3	191	1	0	0	0	0	1	0	0	0	8049	333	12	3	133	3	KCNJ15	21	39671314	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1882738	39671314	8458581	1974	104994											
ETS2	2114	broad.mit.edu	37	chr21	40194777	40194777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgcccgaggaactgcaCgccatcctgggcgtccagcc	11	17	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:40194777C>T	uc002yxg.2	+	10	1570	c.1374C>T	c.(1372-1374)CAC>CAT	p.H458H	ETS2_uc002yxf.2_Silent_p.H598H	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	458					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				AGGAACTGCACGCCATCCTGG	0.647													T	40194777	C	T	40194777	2	4	191	1	0	0	0	0	0	0	0	1	5276	535	19	1		1	ETS2	21	40194777	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	523463	40194777	7935118	1975	104995											
DSCAM	1826	broad.mit.edu	37	chr21	41416171	41416171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcggtttctcgctgtgggCccagccttggcattcctcct	11	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:41416171C>T	uc002yyq.1	-	31	5669	c.5217G>A	c.(5215-5217)GGG>GGA	p.G1739G	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1739	Cytoplasmic (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGCTGTGGGCCCAGCCTTGG	0.592													T	41416171	C	T	41416171	2	4	191	1	0	0	0	0	0	0	0	1	4768	726	26	2		2	DSCAM	21	41416171	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1221394	41416171	6713724	1976	104996											
BACE2	25825	broad.mit.edu	37	chr21	42647470	42647470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatcgtcctgctgctgctGccgttccggtgtcagcgtcg	12	13	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:42647470G>A	uc002yyw.2	+	9	1939	c.1476G>A	c.(1474-1476)CTG>CTA	p.L492L	BACE2_uc002yyx.2_Silent_p.L442L|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	492	Helical; (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGCTGCTGCTGCCGTTCCGGT	0.567													A	42647470	G	A	42647470	2	1	191	1	0	0	0	0	0	0	0	1	1282	1306	46	2		2	BACE2	21	42647470	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1231299	42647470	5482425	1977	104997											
TMPRSS2	7113	broad.mit.edu	37	chr21	42866364	42866364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtcaggaccctcggggCgtactggggcacgggggacg	19	12	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:42866364C>T	uc002yzj.2	-	3	291	c.157G>A	c.(157-159)GCC>ACC	p.A53T	TMPRSS2_uc010gor.2_Missense_Mutation_p.A90T|TMPRSS2_uc010gos.1_Missense_Mutation_p.A53T	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	53	Cytoplasmic (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ACCCTCGGGGCGTACTGGGGC	0.612			T	ERG|ETV1|ETV4|ETV5	prostate 								T	42866364	C	T	42866364	3	4	191	1	0	0	0	0	1	0	0	0	16244	768	27	1	1369	1	TMPRSS2	21	42866364	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	218894	42866364	5263531	1978	104998											
UBASH3A	53347	broad.mit.edu	37	chr21	43864692	43864692	+	Frame_Shift_Del	DEL	C	C	-													ctccactctggactcctgcaCgcggccactgctcgggctgc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:43864691_43864691AC>A	uc002zbe.3	+	13	1870	c.1786_1786AC>A	c.(1786-1788)acgfs	p.T596fs	UBASH3A_uc002zbf.3_Frame_Shift_Del_p.T558fs|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	596	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGACTCCTGCACGCGGCCACT	0.577													-	43864692	C	-	43864692	7	5	191	1	0	1	0	1	0	0	0	0	16836	536	19	0	1841	0	UBASH3A	21	43864692	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	998328	43864692	4265203	1979	104999											
RRP1B	23076	broad.mit.edu	37	chr21	45107917	45107917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggccctcccacaggcccCgcagagggggcgaacagcca	14	16	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45107917C>T	uc002zdk.2	+	13	1776	c.1662C>T	c.(1660-1662)CCC>CCT	p.P554P	RRP1B_uc002zdl.2_Silent_p.P87P	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	554					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CCACAGGCCCCGCAGAGGGGG	0.662													T	45107917	C	T	45107917	2	4	191	1	0	0	0	0	0	0	0	1	13688	639	23	1		1	RRP1B	21	45107917	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1243225	45107917	3021978	1980	105000											
TRAPPC10	7109	broad.mit.edu	37	chr21	45504083	45504083	+	Frame_Shift_Del	DEL	C	C	-													ttcgtcctccctcacatctaCcccattgtgcagtacgacgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45504082_45504082AC>A	uc002zea.3	+	14	2487	c.2318_2318AC>A	c.(2317-2319)tacfs	p.Y773fs	TRAPPC10_uc010gpo.3_Frame_Shift_Del_p.Y484fs|TRAPPC10_uc011afa.2_Frame_Shift_Del_p.Y192fs	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	773					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						CCTCACATCTACCCCATTGTG	0.607													-	45504083	C	-	45504083	7	5	191	1	0	1	0	1	0	0	0	0	16454	518	18	0	2377	0	TRAPPC10	21	45504083	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	396166	45504083	2625812	1981	105001											
PWP2	5822	broad.mit.edu	37	chr21	45540348	45540348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgacctcatccatggaCgggaccgtgcgagcctttga	14	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45540348C>T	uc002zeb.2	+	11	1398	c.1308C>T	c.(1306-1308)GAC>GAT	p.D436D		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	436	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CATCCATGGACGGGACCGTGC	0.597													T	45540348	C	T	45540348	2	4	191	1	0	0	0	0	0	0	0	1	12844	535	19	1		1	PWP2	21	45540348	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	36265	45540348	2589547	1982	105002											
AIRE	326	broad.mit.edu	37	chr21	45711065	45711065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccttccacctggcctgcCtgtcccctccgctccgggag	12	19	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45711065C>A	uc002zei.2	+	8	1094	c.967C>A	c.(967-969)CTG>ATG	p.L323M	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.L126M|AIRE_uc010gpr.2_Missense_Mutation_p.L126M	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	323	PHD-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		CCTGGCCTGCCTGTCCCCTCC	0.682									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				A	45711065	C	A	45711065	3	1	191	1	0	0	0	0	1	0	0	0	437	680	24	5	1285	5	AIRE	21	45711065	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	170717	45711065	2418830	1983	105003											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999955	45999955	+	Frame_Shift_Del	DEL	G	G	-													acgtagcaggactgctggcaGggggaggaggtgcagcaagt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45999954_45999954AG>A	uc002zfl.1	-	0	528	c.502_502CT>T	c.(502-504)tgcfs	p.C168fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	168	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.P167H(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GACTGCTGGCAGGGGGAGGAG	0.597													-	45999955	G	-	45999955	7	5	191	1	0	1	0	1	0	0	0	0	8512	987	35	0	318	0	KRTAP10-5	21	45999955	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	288890	45999955	2129940	1984	105004											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047185	46047185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgagcccccctgctgcGccaccagctgctgcgccccg	12	20	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:46047185G>A	uc002zfp.3	+	1	146	c.97G>A	c.(97-99)GCC>ACC	p.A33T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	33	2.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CCCCTGCTGCGCCACCAGCTG	0.697													A	46047185	G	A	46047185	3	1	191	1	0	0	0	0	1	0	0	0	8516	1087	38	1	99	1	KRTAP10-9	21	46047185	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	47230	46047185	2082710	1985	105005											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057386	46057386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctgcactgactcttggCgggtagtcgactgcccagag	14	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:46057386C>T	uc002zfq.2	+	1	114	c.52C>T	c.(52-54)CGG>TGG	p.R18W	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	18						keratin filament					0						TGACTCTTGGCGGGTAGTCGA	0.617													T	46057386	C	T	46057386	3	4	191	1	0	0	0	0	1	0	0	0	8506	759	27	1	54	1	KRTAP10-10	21	46057386	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	10201	46057386	2072509	1986	105006											
COL18A1	80781	broad.mit.edu	37	chr21	46888199	46888199	+	Frame_Shift_Del	DEL	C	C	-													ctgctgcagctccttggggaCcccccgccccagcaggtcac							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:46888198_46888198AC>A	uc002zhi.3	+	1	710	c.689_689AC>A	c.(688-690)gacfs	p.D230fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.D50fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	465					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)		CTCCTTGGGGACCCCCCGCCC	0.662													-	46888199	C	-	46888199	7	5	191	1	0	1	0	1	0	0	0	0	3675	506	18	0	1515	0	COL18A1	21	46888199	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	830813	46888199	1241696	1987	105007											
COL6A1	1291	broad.mit.edu	37	chr21	47423577	47423577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggactttatcaacgacGccaccgacgtcaacgatgcc	8	15	2	0	rs141713954		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:47423577G>A	uc002zhu.1	+	35	2839	c.2737G>A	c.(2737-2739)GCC>ACC	p.A913T	COL6A1_uc010gqd.1_Missense_Mutation_p.A244T|COL6A1_uc002zhv.1_Missense_Mutation_p.A244T|COL6A1_uc002zhw.1_Missense_Mutation_p.A7T	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	913	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TATCAACGACGCCACCGACGT	0.647													A	47423577	G	A	47423577	3	1	191	1	0	0	0	0	1	0	0	0	3699	1087	38	1	2875	1	COL6A1	21	47423577	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	535378	47423577	706318	1988	105008											
MCM3AP	8888	broad.mit.edu	37	chr21	47697478	47697478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctggtcaagcaggcgGtacttctccttggatgtctc	10	12	5	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:47697478G>A	uc002zir.1	-	5	1857	c.1821C>T	c.(1819-1821)TAC>TAT	p.Y607Y		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	607					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CAAGCAGGCGGTACTTCTCCT	0.592													A	47697478	G	A	47697478	2	1	191	1	0	0	0	0	0	0	0	1	9388	1256	44	4		4	MCM3AP	21	47697478	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	273901	47697478	432417	1989	105009											
PCNT	5116	broad.mit.edu	37	chr21	47754333	47754334	+	Frame_Shift_Del	DEL	AG	AG	-													ggaggactgtgatggagagaAgagagaggacttggaacagc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:47754332_47754333AAG>A	uc002zji.4	+	2	396_397	c.289_290AAG>A	c.(289-291)aagfs	p.K97fs	PCNT_uc002zjj.3_5'UTR|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	97					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	p.K97N(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)					TGATGGAGAGAAGAGAGAGGAC	0.535													-	47754334	AG	-	47754333	7	5	191	1	0	1	0	1	0	0	0	0	11590	72	3	0	300	0	PCNT	21	47754333	Frame_Shift_Del	DEL	AG	TCGA-CG-5723-01A-11D-1600-08	56855	47754333	375562	1990	105010											
IL17RA	23765	broad.mit.edu	37	chr22	17581248	17581248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccttctcttcagtggCgttttaccttcagccacttt	5	15	3	0	rs145378071	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:17581248C>T	uc002zly.2	+	5	560	c.427C>T	c.(427-429)CGT>TGT	p.R143C	IL17RA_uc010gqt.2_Missense_Mutation_p.R143C	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	143	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCTTCAGTGGCGTTTTACCTT	0.547													T	17581248	C	T	17581248	3	4	191	1	0	0	0	0	1	0	0	0	7639	768	27	1	445	1	IL17RA	22	17581248	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08		17581248	33723318	1991	105011											
CECR1	51816	broad.mit.edu	37	chr22	17688177	17688177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatggaggtgcaaggcaGcccctggagagggaagaaga	17	7	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:17688177G>A	uc002zmk.1	-	2	538	c.326C>T	c.(325-327)GCT>GTT	p.A109V	CECR1_uc010gqu.1_Missense_Mutation_p.A109V|CECR1_uc011agi.1_Missense_Mutation_p.A67V|CECR1_uc011agj.1_Missense_Mutation_p.A67V	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	109					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			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTGCAAGGCAGCCCCTGGAGA	0.577													A	17688177	G	A	17688177	3	1	191	1	0	0	0	0	1	0	0	0	3205	971	34	2	1275	2	CECR1	22	17688177	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	106929	17688177	33616389	1992	105012											
CECR1	51816	broad.mit.edu	37	chr22	17690434	17690434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagccgcccccccagcCgcatcatcttttctttcaac	5	20	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:17690434C>T	uc002zmk.1	-	1	346	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	CECR1_uc010gqu.1_Missense_Mutation_p.R45Q|CECR1_uc011agi.1_Missense_Mutation_p.R3Q|CECR1_uc011agj.1_Missense_Mutation_p.R3Q	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	45	Dimerization.				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			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCCCCCCAGCCGCATCATCTT	0.542													T	17690434	C	T	17690434	3	4	191	1	0	0	0	0	1	0	0	0	3205	652	23	1	1471	1	CECR1	22	17690434	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2257	17690434	33614132	1993	105013											
SEPT5	5413	broad.mit.edu	37	chr22	19709399	19709399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaacatgctcatccgcaCgcatatgcacgacctcaagg	9	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:19709399C>T	uc002zpv.1	+	10	994	c.869C>T	c.(868-870)ACG>ATG	p.T290M	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_Translation_Start_Site|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	290					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)	1	Colorectal(54;0.0993)					CTCATCCGCACGCATATGCAC	0.657													T	19709399	C	T	19709399	3	4	191	1	0	0	0	0	1	0	0	0	14067	536	19	1	907	1	SEPT5	22	19709399	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2018965	19709399	31595167	1994	105014											
COMT	1312	broad.mit.edu	37	chr22	19956143	19956143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacttcctagcacacgtgCgcgggagcagctgctttgag	13	12	0	2	rs139449932	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:19956143C>T	uc002zqu.2	+	6	949	c.700C>T	c.(700-702)CGC>TGC	p.R234C	COMT_uc002zqv.2_Missense_Mutation_p.R234C|COMT_uc002zqw.2_Missense_Mutation_p.R234C|COMT_uc011ahd.1_Missense_Mutation_p.R234C|COMT_uc002zqx.2_Missense_Mutation_p.R234C	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	234					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	AGCACACGTGCGCGGGAGCAG	0.607													T	19956143	C	T	19956143	3	4	191	1	0	0	0	0	1	0	0	0	3725	768	27	1	714	1	COMT	22	19956143	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	246744	19956143	31348423	1995	105015											
PI4KA	5297	broad.mit.edu	37	chr22	21082088	21082088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcaggcacatcactaaCggctcccgggtccaaccgaa	9	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:21082088C>T	uc002zsz.3	-	40	4804	c.4573G>A	c.(4573-4575)GTT>ATT	p.V1525I	PI4KA_uc002zsy.3_Missense_Mutation_p.V335I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1525					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			ACATCACTAACGGCTCCCGGG	0.532													T	21082088	C	T	21082088	3	4	191	1	0	0	0	0	1	0	0	0	11873	536	19	1	1625	1	PI4KA	22	21082088	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1125945	21082088	30222478	1996	105016											
LZTR1	8216	broad.mit.edu	37	chr22	21343941	21343941	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacatgtggacaattggcctCcaggaccgagagctcacctg	12	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:21343941C>T	uc002zto.2	+	7	724	c.621C>T	c.(619-621)CTC>CTT	p.L207L	LZTR1_uc002ztn.2_Silent_p.L166L|LZTR1_uc011ahy.1_Silent_p.L188L|LZTR1_uc010gsr.1_Silent_p.L78L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	207	Kelch 3.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			CAATTGGCCTCCAGGACCGAG	0.353													T	21343941	C	T	21343941	2	4	191	1	0	0	0	0	0	0	0	1	9137	842	30	4		4	LZTR1	22	21343941	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	261853	21343941	29960625	1997	105017											
ZNF70	7621	broad.mit.edu	37	chr22	24086165	24086165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggtgtagggcttcttgCcggtgtggattctctggtgc	16	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:24086165C>T	uc002zxs.2	-	2	1624	c.1163G>A	c.(1162-1164)GGC>GAC	p.G388D	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	388						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GGGCTTCTTGCCGGTGTGGAT	0.587													T	24086165	C	T	24086165	3	4	191	1	0	0	0	0	1	0	0	0	18100	739	26	2	181	2	ZNF70	22	24086165	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	2742224	24086165	27218401	1998	105018											
SNRPD3	6634	broad.mit.edu	37	chr22	24964007	24964007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggcacagctggagcaggTatacatccgtggcagcaaaa	13	9	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:24964007T>C	uc003aam.1	+	3	622	c.182T>C	c.(181-183)GTA>GCA	p.V61A	SNRPD3_uc011aju.1_Missense_Mutation_p.V61A	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	61					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						CTGGAGCAGGTATACATCCGT	0.468													C	24964007	T	C	24964007	3	2	191	1	0	0	0	0	1	0	0	0	14866	1638	57	3	188	3	SNRPD3	22	24964007	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	877842	24964007	26340559	1999	105019											
MYO18B	84700	broad.mit.edu	37	chr22	26423370	26423370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagcatccactttgaaaCggaagaggctaaccgttcct	8	11	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:26423370C>T	uc003abz.1	+	43	7680	c.7430C>T	c.(7429-7431)ACG>ATG	p.T2477M	MYO18B_uc003aca.1_Missense_Mutation_p.T2358M|MYO18B_uc010guy.1_Missense_Mutation_p.T2359M|MYO18B_uc010guz.1_Missense_Mutation_p.T2357M|MYO18B_uc011aka.1_Missense_Mutation_p.T1631M|MYO18B_uc011akb.1_Missense_Mutation_p.T1990M|MYO18B_uc010gva.1_Missense_Mutation_p.T460M|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2477						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CACTTTGAAACGGAAGAGGCT	0.557													T	26423370	C	T	26423370	3	4	191	1	0	0	0	0	1	0	0	0	10066	536	19	1	7596	1	MYO18B	22	26423370	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1459363	26423370	24881196	2000	105020											
SEZ6L	23544	broad.mit.edu	37	chr22	26747187	26747187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggactcccatctggacGtctcgcctgccccactgcgt	10	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:26747187G>A	uc003acb.2	+	12	2733	c.2577G>A	c.(2575-2577)ACG>ACA	p.T859T	SEZ6L_uc003acc.2_Silent_p.T859T|SEZ6L_uc011akc.1_Silent_p.T859T|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Silent_p.T859T|SEZ6L_uc003ace.2_Silent_p.T859T|SEZ6L_uc003acf.1_Silent_p.T632T|SEZ6L_uc010gvc.1_Silent_p.T632T|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	859	Sushi 4.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCATCTGGACGTCTCGCCTGC	0.532													A	26747187	G	A	26747187	2	1	191	1	0	0	0	0	0	0	0	1	14143	1132	40	1		1	SEZ6L	22	26747187	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	323817	26747187	24557379	2001	105021											
MTMR3	8897	broad.mit.edu	37	chr22	30413941	30413941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccctgtgtgccatgtgcGtaacctgatgctgtggagtg	14	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30413941G>A	uc003agv.3	+	16	2028	c.1700G>A	c.(1699-1701)CGT>CAT	p.R567H	MTMR3_uc003agu.3_Missense_Mutation_p.R567H|MTMR3_uc003agw.3_Missense_Mutation_p.R567H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	567	Myotubularin phosphatase.			LYPVCHVRNLMLWSAVYLP -> CILQPFHCGQQKEFGVGY I (in Ref. 7).	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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGCCATGTGCGTAACCTGATG	0.567													A	30413941	G	A	30413941	3	1	191	1	0	0	0	0	1	0	0	0	9945	1145	40	1	1754	1	MTMR3	22	30413941	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	3666754	30413941	20890625	2002	105022											
MTMR3	8897	broad.mit.edu	37	chr22	30415991	30415992	+	Frame_Shift_Ins	INS	-	-	C													tcctcagttctctccaggtcINSccccccaggggagaggattc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30415990_30415991T>TC	uc003agv.4	+	16	2670_2671	c.2342_2343T>TC	c.(2341-2343)gtcfs	p.V781fs	MTMR3_uc003agu.4_Frame_Shift_Ins_p.V781fs|MTMR3_uc003agw.4_Frame_Shift_Ins_p.V781fs	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	781					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)			TCTCTCCAGGTCCCCCCCAGGG	0.554													C	30415992	-	C	30415991	7	5	191	1	0	1	1	0	0	0	0	0	9945	842	30	0	2401	0	MTMR3	22	30415991	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	2050	30415991	20888575	2003	105023											
TBC1D10A	83874	broad.mit.edu	37	chr22	30691728	30691728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccagcctgctcacccGtggcccccccgggacacaaa	11	19	1	0	rs141103266		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30691728G>A	uc011akt.1	-	4	546	c.522C>T	c.(520-522)CAC>CAT	p.H174H	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.H32H|TBC1D10A_uc003ahj.3_Silent_p.H86H|TBC1D10A_uc010gvu.2_Silent_p.H181H|TBC1D10A_uc003ahk.3_Silent_p.H174H	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	174	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						CTGCTCACCCGTGGCCCCCCC	0.607													A	30691728	G	A	30691728	2	1	191	1	0	0	0	0	0	0	0	1	15595	1136	40	1		1	TBC1D10A	22	30691728	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	275737	30691728	20612838	2004	105024											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951416	30951416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccagctcccagcacaGcaggtccttcagcagcacca	8	18	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30951416G>A	uc003aig.1	-	4	936	c.796C>T	c.(796-798)CTG>TTG	p.L266L	GAL3ST1_uc003aih.1_Silent_p.L266L|GAL3ST1_uc003aii.1_Silent_p.L266L|GAL3ST1_uc010gvz.1_Silent_p.L266L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	266	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						TCCCAGCACAGCAGGTCCTTC	0.667													A	30951416	G	A	30951416	2	1	191	1	0	0	0	0	0	0	0	1	6197	962	34	2		2	GAL3ST1	22	30951416	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	259688	30951416	20353150	2005	105025											
INPP5J	27124	broad.mit.edu	37	chr22	31524009	31524009	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactttgtcaagtttgccatCgacagtgaccagctccatca	7	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:31524009C>T	uc003aju.3	+	7	1952	c.1860C>T	c.(1858-1860)ATC>ATT	p.I620I	INPP5J_uc003ajv.3_Silent_p.I253I|INPP5J_uc003ajs.3_Silent_p.I253I|INPP5J_uc011alk.1_Silent_p.I553I|INPP5J_uc010gwg.2_Silent_p.I185I|INPP5J_uc003ajw.2_Silent_p.I56I|INPP5J_uc003ajt.3_Silent_p.I252I|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_Missense_Mutation_p.S10L	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	620	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			skin(1)	1						AGTTTGCCATCGACAGTGACC	0.567													T	31524009	C	T	31524009	2	4	191	1	0	0	0	0	0	0	0	1	7759	874	31	1		1	INPP5J	22	31524009	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	572593	31524009	19780557	2006	105026											
PLA2G3	50487	broad.mit.edu	37	chr22	31534345	31534345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgttgaagaaggccacGcccacgatgtccgagatgga	13	11	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:31534345G>A	uc003aka.2	-	3	828	c.699C>T	c.(697-699)GGC>GGT	p.G233G		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	233	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						AGAAGGCCACGCCCACGATGT	0.622													A	31534345	G	A	31534345	2	1	191	1	0	0	0	0	0	0	0	1	12000	1074	38	1		1	PLA2G3	22	31534345	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	10336	31534345	19770221	2007	105027											
PISD	23761	broad.mit.edu	37	chr22	32017120	32017120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcttgaaggagtcacAcgacgcggctgtggagtagg	16	8	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:32017120A>G	uc003alm.3	-	6	713	c.706T>C	c.(706-708)TGT>CGT	p.C236R	PISD_uc003alk.2_Missense_Mutation_p.C202R|PISD_uc003all.2_Missense_Mutation_p.C201R|PISD_uc011alr.1_Missense_Mutation_p.C201R|PISD_uc003aln.3_Missense_Mutation_p.C236R	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	236					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	AAGGAGTCACACGACGCGGCT	0.612											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	32017120	A	G	32017120	3	3	191	1	0	0	0	0	1	0	0	0	11946	159	6	3	535	3	PISD	22	32017120	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	482775	32017120	19287446	2008	105028											
DEPDC5	9681	broad.mit.edu	37	chr22	32200207	32200207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgctgtcccattgttcAaggtaattagatttcggatt	8	7	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:32200207A>G	uc003als.2	+	16	1283	c.1141A>G	c.(1141-1143)AAG>GAG	p.K381E	DEPDC5_uc011als.1_Missense_Mutation_p.K381E|DEPDC5_uc011alu.1_Missense_Mutation_p.K381E|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.K381E|DEPDC5_uc003alr.1_Missense_Mutation_p.K381E|DEPDC5_uc011alt.1_Missense_Mutation_p.K353E	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	381					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCCATTGTTCAAGGTAATTAG	0.313													G	32200207	A	G	32200207	3	3	191	1	0	0	0	0	1	0	0	0	4442	131	5	3	1199	3	DEPDC5	22	32200207	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	183087	32200207	19104359	2009	105029											
DEPDC5	9681	broad.mit.edu	37	chr22	32302427	32302427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatcaaccgtgacaacCggctggtcacgttctggaca	10	13	4	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:32302427C>T	uc003als.2	+	42	4805	c.4663C>T	c.(4663-4665)CGG>TGG	p.R1555W	DEPDC5_uc011als.1_Missense_Mutation_p.R1486W|DEPDC5_uc011alu.1_Missense_Mutation_p.R1586W|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1577W|DEPDC5_uc003alu.2_Missense_Mutation_p.R1004W|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R853W|DEPDC5_uc011alx.1_Missense_Mutation_p.R403W|DEPDC5_uc010gwk.2_3'UTR|DEPDC5_uc011aly.1_Missense_Mutation_p.R403W	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1555					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCGTGACAACCGGCTGGTCAC	0.592													T	32302427	C	T	32302427	3	4	191	1	0	0	0	0	1	0	0	0	4442	643	23	1	4913	1	DEPDC5	22	32302427	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	102220	32302427	19002139	2010	105030											
HMOX1	3162	broad.mit.edu	37	chr22	35783055	35783055	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accttccccaacattgccagTgccaccaagttcaagcagct	6	16	1	0	rs140966438		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:35783055T>A	uc003ant.1	+	3	602	c.522T>A	c.(520-522)AGT>AGA	p.S174R		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	174					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	ACATTGCCAGTGCCACCAAGT	0.597													A	35783055	T	A	35783055	3	1	191	1	0	0	0	0	1	0	0	0	7243	1693	59	5	532	5	HMOX1	22	35783055	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3480628	35783055	15521511	2011	105031											
APOL3	80833	broad.mit.edu	37	chr22	36541536	36541536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacctgggcaattcagccGcagtcacgaatctcttccag	9	13	3	0	rs141517147	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:36541536G>A	uc003aot.2	-	2	373	c.335C>T	c.(334-336)GCG>GTG	p.A112V	APOL3_uc003aoq.2_Missense_Mutation_p.A41V|APOL3_uc003aor.2_Missense_Mutation_p.A41V|APOL3_uc003aos.2_Missense_Mutation_p.A41V|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	112					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						CAATTCAGCCGCAGTCACGAA	0.557													A	36541536	G	A	36541536	3	1	191	1	0	0	0	0	1	0	0	0	807	1087	38	1	881	1	APOL3	22	36541536	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	758481	36541536	14763030	2012	105032											
CSF2RB	1439	broad.mit.edu	37	chr22	37334294	37334294	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagcccgagggcctccttgTcctgcagcaagtgggcgact	13	14	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:37334294T>A	uc003aqa.3	+	14	2661	c.2444T>A	c.(2443-2445)GTC>GAC	p.V815D	CSF2RB_uc003aqc.3_Missense_Mutation_p.V821D	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	815	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	GGCCTCCTTGTCCTGCAGCAA	0.652													A	37334294	T	A	37334294	3	1	191	1	0	0	0	0	1	0	0	0	3935	1667	58	5	2494	5	CSF2RB	22	37334294	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	792758	37334294	13970272	2013	105033											
KCNJ4	3761	broad.mit.edu	37	chr22	38823826	38823826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccaccggggctgctccGccaccacccgccgccgggcc	15	21	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:38823826G>A	uc003avs.1	-	2	409	c.312C>T	c.(310-312)GGC>GGT	p.G104G	KCNJ4_uc003avt.1_Silent_p.G104G	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	104	Poly-Gly.|Val/Gly/Ala/Pro stretch.|Extracellular (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GGGCTGCTCCGCCACCAcccg	0.562													A	38823826	G	A	38823826	2	1	191	1	0	0	0	0	0	0	0	1	8053	1074	38	1		1	KCNJ4	22	38823826	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1489532	38823826	12480740	2014	105034											
CACNA1I	8911	broad.mit.edu	37	chr22	40066157	40066157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagaacttccacaagTgccggcagcaccaggaggct	14	11	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40066157T>C	uc003ayc.2	+	25	4309	c.4309T>C	c.(4309-4311)TGC>CGC	p.C1437R	CACNA1I_uc003ayd.2_Missense_Mutation_p.C1402R|CACNA1I_uc003aye.2_Missense_Mutation_p.C1352R|CACNA1I_uc003ayf.2_Missense_Mutation_p.C1317R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1437	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTTCCACAAGTGCCGGCAGCA	0.607													C	40066157	T	C	40066157	3	2	191	1	0	0	0	0	1	0	0	0	2546	1696	59	3	4407	3	CACNA1I	22	40066157	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1242331	40066157	11238409	2015	105035											
CACNA1I	8911	broad.mit.edu	37	chr22	40066850	40066850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctattgtcacacccGgctgctcatccactccatgt	6	17	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40066850G>A	uc003ayc.2	+	26	4430	c.4430G>A	c.(4429-4431)CGG>CAG	p.R1477Q	CACNA1I_uc003ayd.2_Missense_Mutation_p.R1442Q|CACNA1I_uc003aye.2_Missense_Mutation_p.R1392Q|CACNA1I_uc003ayf.2_Missense_Mutation_p.R1357Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1477	Cytoplasmic (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGTCACACCCGGCTGCTCATC	0.577													A	40066850	G	A	40066850	3	1	191	1	0	0	0	0	1	0	0	0	2546	1116	39	1	4532	1	CACNA1I	22	40066850	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	693	40066850	11237716	2016	105036											
FAM83F	113828	broad.mit.edu	37	chr22	40417465	40417465	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccattactcctccacTgtggctcgaaagcttatcaa	7	14	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40417465T>G	uc003ayk.1	+	4	1045	c.951T>G	c.(949-951)ACT>ACG	p.T317T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	317										breast(1)	1						ACTCCTCCACTGTGGCTCGAA	0.642													G	40417465	T	G	40417465	2	3	191	1	0	0	0	0	0	0	0	1	5638	1567	55	5		5	FAM83F	22	40417465	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	350615	40417465	10887101	2017	105037											
TNRC6B	23112	broad.mit.edu	37	chr22	40661673	40661673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaacaataacaggtctaCgggtgggtcctggaactttg	13	8	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40661673C>T	uc011aor.1	+	5	1650	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.T480M|TNRC6B_uc003ayo.2_Missense_Mutation_p.T284M	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	480					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						AACAGGTCTACGGGTGGGTCC	0.478													T	40661673	C	T	40661673	3	4	191	1	0	0	0	0	1	0	0	0	16338	536	19	1	1578	1	TNRC6B	22	40661673	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	244208	40661673	10642893	2018	105038											
XPNPEP3	63929	broad.mit.edu	37	chr22	41322429	41322429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgaacagatatgcagccAggcttcttgaccttcactgc	8	12	2	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:41322429A>G	uc003azh.2	+	10	1606	c.1514A>G	c.(1513-1515)CAG>CGG	p.Q505R	XPNPEP3_uc003azi.2_Missense_Mutation_p.Q426R|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	505					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						ATATGCAGCCAGGCTTCTTGA	0.507													G	41322429	A	G	41322429	3	3	191	1	0	0	0	0	1	0	0	0	17441	188	7	3	1552	3	XPNPEP3	22	41322429	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	660756	41322429	9982137	2019	105039											
RANGAP1	5905	broad.mit.edu	37	chr22	41650427	41650429	+	In_Frame_Del	DEL	TCC	TCC	-													cttcctcctcttcctcatctTcctcctcctcttcttctgct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:41650426_41650428TTCC>T	uc003azs.3	-	9	2614_2616	c.1144_1146GGAA>A	c.(1144-1146)gaa>A	p.E382del	RANGAP1_uc003azt.3_In_Frame_Del_p.E382del|RANGAP1_uc003azu.3_In_Frame_Del_p.E382del|RANGAP1_uc011aoz.2_In_Frame_Del_p.E327del	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	382	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			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						cttcctcatcttcctcctcctct	0.562													-	41650429	TCC	-	41650427	7	5	191	1	0	1	0	1	0	0	0	0	13033	1783	62	0	642	0	RANGAP1	22	41650427	In_Frame_Del	DEL	TCC	TCGA-CG-5723-01A-11D-1600-08	327998	41650427	9654139	2020	105040											
ZC3H7B	23264	broad.mit.edu	37	chr22	41716681	41716681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatggagaggcagaaacGgaaggcggacatcgagaaag	16	6	0	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:41716681G>A	uc003azw.2	+	2	233	c.17G>A	c.(16-18)CGG>CAG	p.R6Q	ZC3H7B_uc003azv.1_Missense_Mutation_p.R6Q|ZC3H7B_uc010gyl.1_RNA	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	6					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						AGGCAGAAACGGAAGGCGGAC	0.602													A	41716681	G	A	41716681	3	1	191	1	0	0	0	0	1	0	0	0	17570	1116	39	1	19	1	ZC3H7B	22	41716681	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	66254	41716681	9587885	2021	105041											
SULT4A1	25830	broad.mit.edu	37	chr22	44234807	44234807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggtagctcatggtccGcagagagcggtggaactgat	15	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:44234807G>A	uc003bee.1	-	4	564	c.448C>T	c.(448-450)CGG>TGG	p.R150W	SULT4A1_uc003bed.1_Missense_Mutation_p.R71W|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	150					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CTCATGGTCCGCAGAGAGCGG	0.537													A	44234807	G	A	44234807	3	1	191	1	0	0	0	0	1	0	0	0	15380	1086	38	1	422	1	SULT4A1	22	44234807	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2518126	44234807	7069759	2022	105042											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45210627	45210627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtggaacatcttgaaGcccctcatcaggtatgcgtc	10	12	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:45210627G>A	uc003bfd.2	+	10	1277	c.1005G>A	c.(1003-1005)AAG>AAA	p.K335K	PRR5-ARHGAP8_uc003bfc.2_Silent_p.K256K|PRR5-ARHGAP8_uc011aqi.1_Silent_p.K247K|PRR5-ARHGAP8_uc011aqj.1_Silent_p.K161K|ARHGAP8_uc003bfi.2_Silent_p.K125K|ARHGAP8_uc010gzv.2_Silent_p.K125K|ARHGAP8_uc003bfj.2_Silent_p.K156K|ARHGAP8_uc003bfk.2_Silent_p.K125K|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						ACATCTTGAAGCCCCTCATCA	0.572													A	45210627	G	A	45210627	2	1	191	1	0	0	0	0	0	0	0	1	12601	962	34	2		2	PRR5-ARHGAP8	22	45210627	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	975820	45210627	6093939	2023	105043											
PHF21B	112885	broad.mit.edu	37	chr22	45309814	45309814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtgctctcgggctgcGtctgcacttgaggctgaatg	14	12	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:45309814G>A	uc003bfn.2	-	5	870	c.719C>T	c.(718-720)ACG>ATG	p.T240M	PHF21B_uc003bfm.2_Missense_Mutation_p.T36M|PHF21B_uc011aqk.1_Missense_Mutation_p.T186M|PHF21B_uc011aql.1_Missense_Mutation_p.T198M|PHF21B_uc011aqm.1_Missense_Mutation_p.T186M	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	240							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTCGGGCTGCGTCTGCACTTG	0.438													A	45309814	G	A	45309814	3	1	191	1	0	0	0	0	1	0	0	0	11834	1145	40	1	912	1	PHF21B	22	45309814	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	99187	45309814	5994752	2024	105044											
RIBC2	26150	broad.mit.edu	37	chr22	45818285	45818285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagacttcaacaagagCcaggtataggtactccgcga	11	9	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:45818285C>T	uc011aqs.1	+	5	866	c.657C>T	c.(655-657)AGC>AGT	p.S219S		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	151	Potential.										0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCAACAAGAGCCAGGTATAGG	0.572													T	45818285	C	T	45818285	2	4	191	1	0	0	0	0	0	0	0	1	13353	738	26	2		2	RIBC2	22	45818285	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	508471	45818285	5486281	2025	105045											
CELSR1	9620	broad.mit.edu	37	chr22	46765660	46765660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcgacagccagcagaagtCggggttcccgtagccctggg	15	12	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:46765660C>T	uc003bhw.1	-	26	7801	c.7801G>A	c.(7801-7803)GAC>AAC	p.D2601N	CELSR1_uc011arc.1_Missense_Mutation_p.R1066Q	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2601	Extracellular (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		CAGCAGAAGTCGGGGTTCCCG	0.647													T	46765660	C	T	46765660	3	4	191	1	0	0	0	0	1	0	0	0	3221	884	31	1	1283	1	CELSR1	22	46765660	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	947375	46765660	4538906	2026	105046											
TBC1D22A	25771	broad.mit.edu	37	chr22	47188444	47188444	+	Frame_Shift_Del	DEL	C	C	-													cacgtgtatggtgcccagcaCcccccctttgatccactgtt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:47188443_47188443AC>A	uc003bib.3	+	1	255	c.89_89AC>A	c.(88-90)cacfs	p.H30fs	TBC1D22A_uc010haf.3_5'UTR|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_5'UTR	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	30						intracellular	Rab GTPase activator activity|protein homodimerization 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)		GGTGCCCAGCACCCCCCCTTT	0.567													-	47188444	C	-	47188444	7	5	191	1	0	1	0	1	0	0	0	0	15608	506	18	0	96	0	TBC1D22A	22	47188444	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	422784	47188444	4116122	2027	105047											
ZBED4	9889	broad.mit.edu	37	chr22	50279276	50279276	+	Frame_Shift_Del	DEL	A	A	-													acgattctcacccagttgccAaaaaaatcacaagtctcata							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:50279275_50279275CA>C	uc003bix.2	+	1	2435	c.1965_1965CA>C	c.(1963-1965)gccfs	p.A655fs	ZBED4_uc021wrx.1_Frame_Shift_Del_p.A655fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	655						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)		ACCCAGTTGCCAAAAAAATCA	0.468													-	50279276	A	-	50279276	7	5	191	1	0	1	0	1	0	0	0	0	17517	131	5	0	1968	0	ZBED4	22	50279276	Frame_Shift_Del	DEL	A	TCGA-CG-5723-01A-11D-1600-08	3090832	50279276	1025290	2028	105048											
PANX2	56666	broad.mit.edu	37	chr22	50615711	50615711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgggcatcacggagcgCgagaagcgcgagatcatcga	16	12	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:50615711C>T	uc003bjn.3	+	2	570	c.570C>T	c.(568-570)CGC>CGT	p.R190R	PANX2_uc003bjp.3_Silent_p.R56R|PANX2_uc003bjo.3_Silent_p.R190R	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	190	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCACGGAGCGCGAGAAGCGCG	0.647													T	50615711	C	T	50615711	2	4	191	1	0	0	0	0	0	0	0	1	11421	755	27	1		1	PANX2	22	50615711	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	336435	50615711	688855	2029	105049											
NCAPH2	29781	broad.mit.edu	37	chr22	50961502	50961502	+	Frame_Shift_Del	DEL	C	C	-													gaccagctggtctcacggttCccccagctcaatgagtggtg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:50961501_50961501TC>T	uc003blx.4	+	18	1708	c.1586_1586TC>T	c.(1585-1587)ttcfs	p.F529fs	NCAPH2_uc003blv.3_Frame_Shift_Del_p.F528fs|NCAPH2_uc003blr.4_Frame_Shift_Del_p.F528fs	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	528					chromosome condensation	chromosome|nucleus		p.P529L(1)		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)		GTCTCACGGTTCCCCCAGCTC	0.637													-	50961502	C	-	50961502	7	5	191	1	0	1	0	1	0	0	0	0	10210	854	30	0	1700	0	NCAPH2	22	50961502	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	345791	50961502	343064	2030	105050											
IL3RA	3563	broad.mit.edu	37	chrX	1499988	1499988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggtgacagcttccaaaaCgacaagctggtatgttgttt	10	8	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:1499988C>T	uc004cps.2	+	11	1402	c.1053C>T	c.(1051-1053)AAC>AAT	p.N351N	IL3RA_uc011mhd.1_Silent_p.N273N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	351	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	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)	GCTTCCAAAACGACAAGCTGG	0.423													T	1499988	C	T	1499988	2	4	191	1	0	0	0	0	0	0	0	1	7695	535	19	1		1	IL3RA	23	1499988	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08		1499988	153770572	2031	105051											
MXRA5	25878	broad.mit.edu	37	chrX	3228890	3228890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctgctatctcccgcaCagtggtgatggggttggggt	16	11	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:3228890C>T	uc004crg.3	-	7	7511	c.7354G>A	c.(7354-7356)GTG>ATG	p.V2452M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2452	Ig-like C2-type 9.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTCCCGCACAGTGGTGATG	0.587													T	3228890	C	T	3228890	3	4	191	1	0	0	0	0	1	0	0	0	10003	478	17	4	1136	4	MXRA5	23	3228890	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1728902	3228890	152041670	2032	105052											
HCCS	3052	broad.mit.edu	37	chrX	11133052	11133052	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgagtacgtggagtgTcccattaggggcactgcggc	15	10	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:11133052T>C	uc004cuk.2	+	3	464	c.198T>C	c.(196-198)TGT>TGC	p.C66C	HCCS_uc004cuj.2_Silent_p.C66C|HCCS_uc004cul.1_Silent_p.C66C	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	66					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						ACGTGGAGTGTCCCATTAGGG	0.498													C	11133052	T	C	11133052	2	2	191	1	0	0	0	0	0	0	0	1	6990	1673	58	3		3	HCCS	23	11133052	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	7904162	11133052	144137508	2033	105053											
GEMIN8	54960	broad.mit.edu	37	chrX	14027102	14027102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttgtcaaagctcagcTgcaccgcggcctccatggct	11	14	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:14027102T>C	uc004cwb.2	-	5	1002	c.659A>G	c.(658-660)CAG>CGG	p.Q220R	GEMIN8_uc004cwc.2_Missense_Mutation_p.Q220R|GEMIN8_uc004cwd.2_Missense_Mutation_p.Q220R	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	220					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						AAAGCTCAGCTGCACCGCGGC	0.617													C	14027102	T	C	14027102	3	2	191	1	0	0	0	0	1	0	0	0	6334	1580	55	3	73	3	GEMIN8	23	14027102	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2894050	14027102	141243458	2034	105054											
MBTPS2	51360	broad.mit.edu	37	chrX	21896785	21896785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatatgttatacgtaggAcatcctctgcatcttcacta	6	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:21896785A>G	uc004dae.2	+	9	1433	c.1236A>G	c.(1234-1236)GGA>GGG	p.G412G	MBTPS2_uc010nfr.2_Silent_p.G5G	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	412	Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1						TATACGTAGGACATCCTCTGC	0.368													G	21896785	A	G	21896785	2	3	191	1	0	0	0	0	0	0	0	1	9362	262	10	3		3	MBTPS2	23	21896785	Silent	SNP	A	TCGA-CG-5723-01A-11D-1600-08	7869683	21896785	133373775	2035	105055											
POLA1	5422	broad.mit.edu	37	chrX	24760164	24760164	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcgtaacgagttcttgTtgcttcatgcattttacgaa	9	9	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:24760164T>C	uc004dbl.2	+	22	2397	c.2374T>C	c.(2374-2376)TTG>CTG	p.L792L	SCARNA23_uc004dbo.1_5'Flank	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	792					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			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CGAGTTCTTGTTGCTTCATGC	0.383													C	24760164	T	C	24760164	2	2	191	1	0	0	0	0	0	0	0	1	12187	1722	60	3		3	POLA1	23	24760164	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	2863379	24760164	130510396	2036	105056											
LANCL3	347404	broad.mit.edu	37	chrX	37431309	37431309	+	Frame_Shift_Del	DEL	G	G	-													gcgggggctagcgcctgccaGggggggctttatggcggcgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:37431309delG	uc011mkd.1	+	1	488	c.186delG	c.(184-186)CAGfs	p.Q62fs	LANCL3_uc004ddp.1_Frame_Shift_Del_p.Q62fs	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	62							catalytic activity				0						GCGCCTGCCAGGGGGGGCTTT	0.721													-	37431309	G	-	37431309	7	5	191	1	0	1	0	1	0	0	0	0	8622	991	35	0	188	0	LANCL3	23	37431309	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	12671145	37431309	117839251	2037	105057											
XK	7504	broad.mit.edu	37	chrX	37587585	37587586	+	Frame_Shift_Ins	INS	-	-	A													tgctgggcctgcaggcagcaINSaaaaccctgtgagccgatag							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:37587584_37587585C>CA	uc004ddq.3	+	2	1286_1287	c.1204_1205C>CA	c.(1204-1206)caafs	p.Q402fs		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	402					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)				CTGCAGGCAGCAAAAACCCTGT	0.47													A	37587586	-	A	37587585	7	5	191	1	0	1	1	0	0	0	0	0	17428	130	5	0	1215	0	XK	23	37587585	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	156276	37587585	117682975	2038	105058											
OTC	5009	broad.mit.edu	37	chrX	38271179	38271179	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaaagccagaagaagTggatgatgaagtcttttatt	11	6	1	5			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:38271179T>G	uc004def.3	+	9	1146	c.932T>G	c.(931-933)GTG>GGG	p.V311G		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	311					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CCAGAAGAAGTGGATGATGAA	0.423													G	38271179	T	G	38271179	3	3	191	1	0	0	0	0	1	0	0	0	11301	1696	59	5	966	5	OTC	23	38271179	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	683594	38271179	116999381	2039	105059											
CXorf38	159013	broad.mit.edu	37	chrX	40496296	40496296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atactgccacaatctctgggAtgttcttgaattcattcaga	7	9	4	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:40496296A>T	uc004dew.2	-	4	589	c.584T>A	c.(583-585)ATC>AAC	p.I195N	CXorf38_uc011mko.1_Missense_Mutation_p.I110N|CXorf38_uc004dev.1_Missense_Mutation_p.I76N|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	195										ovary(1)	1						AATCTCTGGGATGTTCTTGAA	0.373													T	40496296	A	T	40496296	3	4	191	1	0	0	0	0	1	0	0	0	4107	333	12	5	387	5	CXorf38	23	40496296	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	2225117	40496296	114774264	2040	105060											
RBM10	8241	broad.mit.edu	37	chrX	47044527	47044527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaaaatagcttccagcCtatcagctccctgcgagatg	7	13	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:47044527C>A	uc004dhf.2	+	18	2403	c.2024C>A	c.(2023-2025)CCT>CAT	p.P675H	RBM10_uc004dhg.2_Missense_Mutation_p.P597H|RBM10_uc004dhh.2_Missense_Mutation_p.P674H|RBM10_uc010nhq.2_Missense_Mutation_p.P598H|RBM10_uc004dhi.2_Missense_Mutation_p.P740H	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	675					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						AGCTTCCAGCCTATCAGCTCC	0.562													A	47044527	C	A	47044527	3	1	191	1	0	0	0	0	1	0	0	0	13111	681	24	5	2090	5	RBM10	23	47044527	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	6548231	47044527	108226033	2041	105061											
CCNB3	85417	broad.mit.edu	37	chrX	50053307	50053307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagaacttgttggcttTgcaggagaaaagcaccatgg	12	7	0	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:50053307T>C	uc004dox.3	+	6	2436	c.2138T>C	c.(2137-2139)TTG>TCG	p.L713S	CCNB3_uc004doy.2_Missense_Mutation_p.L713S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	713					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TTGTTGGCTTTGCAGGAGAAA	0.468													C	50053307	T	C	50053307	3	2	191	1	0	0	0	0	1	0	0	0	2914	1821	63	3	2152	3	CCNB3	23	50053307	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	3008780	50053307	105217253	2042	105062											
CCNB3	85417	broad.mit.edu	37	chrX	50054263	50054263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttcaaggagccattgGccttacaagagagtcccacc	9	13	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:50054263G>A	uc004dox.3	+	6	3392	c.3094G>A	c.(3094-3096)GCC>ACC	p.A1032T	CCNB3_uc004doy.2_Missense_Mutation_p.A1032T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1032					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GGAGCCATTGGCCTTACAAGA	0.473													A	50054263	G	A	50054263	3	1	191	1	0	0	0	0	1	0	0	0	2914	1203	42	2	3108	2	CCNB3	23	50054263	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	956	50054263	105216297	2043	105063											
DGKK	139189	broad.mit.edu	37	chrX	50130583	50130583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacactattgcagtgttgTtctgttttatctgaccccag	8	10	2	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:50130583T>C	uc010njr.1	-	14	2147	c.2087A>G	c.(2086-2088)AAC>AGC	p.N696S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	696					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			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					TGCAGTGTTGTTCTGTTTTAT	0.383													C	50130583	T	C	50130583	3	2	191	1	0	0	0	0	1	0	0	0	4472	1725	60	3	1787	3	DGKK	23	50130583	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	76320	50130583	105139977	2044	105064											
KDM5C	8242	broad.mit.edu	37	chrX	53246393	53246393	+	Frame_Shift_Del	DEL	G	G	-													aggctgcacagactgtcgtaGggggatgctgtggggtttgt							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:53246393delG	uc004drz.2	-	5	1122	c.589delC	c.(589-591)CTAfs	p.L197fs	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Del_p.L130fs|KDM5C_uc004dsa.2_Frame_Shift_Del_p.L196fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	197					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			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GACTGTCGTAGGGGGATGCTG	0.527			N|F|S		clear cell renal carcinoma								-	53246393	G	-	53246393	7	5	191	1	0	1	0	1	0	0	0	0	8135	991	35	0	4279	0	KDM5C	23	53246393	Frame_Shift_Del	DEL	G	TCGA-CG-5723-01A-11D-1600-08	3115810	53246393	102024167	2045	105065											
HUWE1	10075	broad.mit.edu	37	chrX	53586338	53586338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggctggtagctgtgctcTgatcatggaaaaagtcatcc	11	9	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:53586338T>C	uc004dsp.2	-	57	8294	c.7892A>G	c.(7891-7893)CAG>CGG	p.Q2631R	HUWE1_uc004dsn.2_Missense_Mutation_p.Q1455R|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2631					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGCTGTGCTCTGATCATGGAA	0.522													C	53586338	T	C	53586338	3	2	191	1	0	0	0	0	1	0	0	0	7461	1580	55	3	5344	3	HUWE1	23	53586338	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	339945	53586338	101684222	2046	105066											
WNK3	65267	broad.mit.edu	37	chrX	54228568	54228568	+	Frame_Shift_Del	DEL	T	T	-													aagtcatctgtgaacatcccTtttttactggctggagactg							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:54228568delT	uc004dtd.1	-	22	5197	c.4758delA	c.(4756-4758)AAAfs	p.K1586fs	WNK3_uc004dtc.1_Frame_Shift_Del_p.K1643fs	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1586					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			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TGAACATCCCTTTTTTACTGG	0.393													-	54228568	T	-	54228568	7	5	191	1	0	1	0	1	0	0	0	0	17376	1606	56	0	481	0	WNK3	23	54228568	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	642230	54228568	101041992	2047	105067											
UBQLN2	29978	broad.mit.edu	37	chrX	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-													aggacccactggccctgcagCcccccctggctccaccggct							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642													-	56591874	C	-	56591874	7	5	191	1	0	1	0	1	0	0	0	0	16894	739	26	0	1570	0	UBQLN2	23	56591874	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	2363306	56591874	98678686	2048	105068											
SPIN2A	54466	broad.mit.edu	37	chrX	57162586	57162586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgagctaagaccatccCcctccattcatccttagaac	5	15	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:57162586C>A	uc004dvb.2	-	2	816	c.445G>T	c.(445-447)GGG>TGG	p.G149W		NM_019003	NP_061876	Q99865	SPI2A_HUMAN	spindlin family, member 2	149					cell cycle|gamete generation						0						AAGACCATCCCCCTCCATTCA	0.408													A	57162586	C	A	57162586	3	1	191	1	0	0	0	0	1	0	0	0	15052	623	22	5	335	5	SPIN2A	23	57162586	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	570712	57162586	98107974	2049	105069											
HEPH	9843	broad.mit.edu	37	chrX	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacttactggaaagtgCgatatgaagcctttcaagat	12	7	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:65413405C>T	uc011moz.1	+	8	1363	c.1303C>T	c.(1303-1305)CGA>TGA	p.R435*	HEPH_uc004dwn.2_Nonsense_Mutation_p.R435*|HEPH_uc004dwo.2_Nonsense_Mutation_p.R165*|HEPH_uc010nkr.2_Nonsense_Mutation_p.R435*|HEPH_uc011mpa.1_Nonsense_Mutation_p.R435*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	432	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CTGGAAAGTGCGATATGAAGC	0.368													T	65413405	C	T	65413405	4	4	191	1	0	0	0	0	0	1	0	0	7054	760	27	1	1486	1	HEPH	23	65413405	Nonsense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	8250819	65413405	89857155	2050	105070											
NHSL2	340527	broad.mit.edu	37	chrX	71359790	71359790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagcaaaactaaggtgagtCggcaccactcagagacaaat	10	9	1	2	rs144260909	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:71359790C>T	uc011mqa.1	+	6	2392	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W	NHSL2_uc004eak.1_Missense_Mutation_p.R432W|NHSL2_uc010nli.2_Missense_Mutation_p.R567W	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	798											0	Renal(35;0.156)					TAAGGTGAGTCGGCACCACTC	0.498													T	71359790	C	T	71359790	3	4	191	1	0	0	0	0	1	0	0	0	10412	875	31	1	2414	1	NHSL2	23	71359790	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	5946385	71359790	83910770	2051	105071											
FAM46D	169966	broad.mit.edu	37	chrX	79699146	79699146	+	Frame_Shift_Del	DEL	C	C	-													tttatgtaatacctgagccaCcccccgttagcttccagcca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:79699145_79699145AC>A	uc022bzm.1	+	0	1107	c.1107_1107AC>A	c.(1105-1107)ccafs	p.P369fs	FAM46D_uc004edl.1_Frame_Shift_Del_p.P369fs|FAM46D_uc004edm.2_Frame_Shift_Del_p.P369fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	369								p.P369Q(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TACCTGAGCCACCCCCCGTTA	0.408													-	79699146	C	-	79699146	7	5	191	1	0	1	0	1	0	0	0	0	5568	507	18	0	1110	0	FAM46D	23	79699146	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	8339356	79699146	75571414	2052	105072											
NAP1L3	4675	broad.mit.edu	37	chrX	92927070	92927070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtagttgtcacagtaaCatcttttcctcttctccagt	7	11	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:92927070C>T	uc004efq.2	-	1	1539	c.1234G>A	c.(1234-1236)GTT>ATT	p.V412I	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	412					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						GTCACAGTAACATCTTTTCCT	0.418													T	92927070	C	T	92927070	3	4	191	1	0	0	0	0	1	0	0	0	10158	478	17	4	290	4	NAP1L3	23	92927070	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	13227924	92927070	62343490	2053	105073											
CSTF2	1478	broad.mit.edu	37	chrX	100088274	100088274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtgcaatggaggcccGtgcgatggaagctcgtgcaa	16	11	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:100088274G>A	uc004egh.2	+	11	1371	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H	CSTF2_uc010nnd.2_Missense_Mutation_p.R458H|CSTF2_uc004egi.2_Missense_Mutation_p.R421H	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	438	6.|12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						ATGGAGGCCCGTGCGATGGAA	0.622													A	100088274	G	A	100088274	3	1	191	1	0	0	0	0	1	0	0	0	3984	1145	40	1	1355	1	CSTF2	23	100088274	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	7161204	100088274	55182286	2054	105074											
TRMT2B	79979	broad.mit.edu	37	chrX	100292967	100292967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgggtacagccgttgtcAcactgactccattgagcatt	9	10	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:100292967A>G	uc004egq.2	-	4	676	c.377T>C	c.(376-378)GTG>GCG	p.V126A	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.V126A|TRMT2B_uc004egs.2_Missense_Mutation_p.V126A|TRMT2B_uc004egt.2_Missense_Mutation_p.V126A|TRMT2B_uc004egu.2_Missense_Mutation_p.V7A|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	126							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						AGCCGTTGTCACACTGACTCC	0.423													G	100292967	A	G	100292967	3	3	191	1	0	0	0	0	1	0	0	0	16563	159	6	3	1177	3	TRMT2B	23	100292967	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	204693	100292967	54977593	2055	105075											
ARMCX5	64860	broad.mit.edu	37	chrX	101857120	101857120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaaaggctgaggctggCctgcaagatggaatcagtgg	17	6	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:101857120C>T	uc004ejg.2	+	6	932	c.51C>T	c.(49-51)GGC>GGT	p.G17G	ARMCX5_uc004ejh.2_Silent_p.G17G	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	17							binding			ovary(1)	1						CTGAGGCTGGCCTGCAAGATG	0.527													T	101857120	C	T	101857120	2	4	191	1	0	0	0	0	0	0	0	1	962	726	26	2		2	ARMCX5	23	101857120	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1564153	101857120	53413440	2056	105076											
GPRASP1	9737	broad.mit.edu	37	chrX	101909665	101909665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccaatacctggtctgggcCcagggaagatcccaatagca	10	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:101909665C>A	uc004ejj.3	+	5	1625	c.824C>A	c.(823-825)CCC>CAC	p.P275H	GPRASP1_uc004eji.3_Missense_Mutation_p.P275H|GPRASP1_uc010nod.2_Missense_Mutation_p.P275H	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	275						cytoplasm	protein binding			ovary(1)|lung(1)	2						TGGTCTGGGCCCAGGGAAGAT	0.468													A	101909665	C	A	101909665	3	1	191	1	0	0	0	0	1	0	0	0	6722	623	22	5	826	5	GPRASP1	23	101909665	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	52545	101909665	53360895	2057	105077											
TCEAL5	340543	broad.mit.edu	37	chrX	102529176	102529176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacataatcttcagccgggcGcttttcggcggcccgcggct	12	15	2	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:102529176G>A	uc004ejz.1	-	3	611	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						TCAGCCGGGCGCTTTTCGGCG	0.587													A	102529176	G	A	102529176	3	1	191	1	0	0	0	0	1	0	0	0	15671	1087	38	1	308	1	TCEAL5	23	102529176	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	619511	102529176	52741384	2058	105078											
BEX2	84707	broad.mit.edu	37	chrX	102564733	102564733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggatgggctgcctaaCgcggaaccgcctacggtttc	13	13	0	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:102564733C>T	uc004ekb.2	-	3	411	c.172G>A	c.(172-174)GTT>ATT	p.V58I	BEX2_uc004eka.2_Missense_Mutation_p.V87I	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	58					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1						GGCTGCCTAACGCGGAACCGC	0.498													T	102564733	C	T	102564733	3	4	191	1	0	0	0	0	1	0	0	0	1411	536	19	1	218	1	BEX2	23	102564733	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	35557	102564733	52705827	2059	105079											
TBC1D8B	54885	broad.mit.edu	37	chrX	106069300	106069300	+	Frame_Shift_Del	DEL	T	T	-													acagtgagcaatttaatgccTtttttaggctgcccaaagga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:106069299_106069299CT>C	uc004emo.3	+	5	1032	c.867_867CT>C	c.(865-867)gccfs	p.A289fs	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Frame_Shift_Del_p.A289fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.A289fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	289	GRAM 2.					intracellular	Rab GTPase activator activity|calcium ion binding	p.A289A(3)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATTTAATGCCTTTTTTAGGC	0.373													-	106069300	T	-	106069300	7	5	191	1	0	1	0	1	0	0	0	0	15623	1609	56	0	890	0	TBC1D8B	23	106069300	Frame_Shift_Del	DEL	T	TCGA-CG-5723-01A-11D-1600-08	3504567	106069300	49201260	2060	105080											
TSC22D3	1831	broad.mit.edu	37	chrX	106957913	106957913	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctccaccagctctcGgatctgctccttcaggatct	7	15	6	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:106957913G>A	uc004eng.2	-	3	491	c.241C>T	c.(241-243)CGA>TGA	p.R81*	TSC22D3_uc004enf.2_Nonsense_Mutation_p.R24*|TSC22D3_uc004enh.2_Nonsense_Mutation_p.R147*|TSC22D3_uc004eni.2_Nonsense_Mutation_p.R147*|TSC22D3_uc004enj.2_Nonsense_Mutation_p.R147*	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	81	Leucine-zipper.						sequence-specific DNA binding transcription factor activity				0						ACCAGCTCTCGGATCTGCTCC	0.522													A	106957913	G	A	106957913	4	1	191	1	0	0	0	0	0	1	0	0	16606	1124	39	1	167	1	TSC22D3	23	106957913	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	888613	106957913	48312647	2061	105081											
KCNE1L	23630	broad.mit.edu	37	chrX	108868075	108868075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggatgtagagataggCgtcgtcgcccttggcgctgg	17	9	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:108868075C>T	uc004eoh.2	-	1	319	c.175G>A	c.(175-177)GCC>ACC	p.A59T		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	potassium voltage-gated channel, Isk-related	59					regulation of heart contraction	voltage-gated potassium channel complex					0						TAGAGATAGGCGTCGTCGCCC	0.657													T	108868075	C	T	108868075	3	4	191	1	0	0	0	0	1	0	0	0	8022	768	27	1	257	1	KCNE1L	23	108868075	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08	1910162	108868075	46402485	2062	105082											
RGAG1	57529	broad.mit.edu	37	chrX	109697380	109697380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagcaaatgaaggggTttttggacgattcagagaga	15	3	1	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:109697380T>G	uc004eor.1	+	3	3781	c.3535T>G	c.(3535-3537)TTT>GTT	p.F1179V	RGAG1_uc011msr.1_Missense_Mutation_p.F1179V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1179										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AATGAAGGGGTTTTTGGACGA	0.507													G	109697380	T	G	109697380	3	3	191	1	0	0	0	0	1	0	0	0	13274	1725	60	5	3537	5	RGAG1	23	109697380	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	829305	109697380	45573180	2063	105083											
LUZP4	51213	broad.mit.edu	37	chrX	114540853	114540853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcaatcagaaggaaaTccggacaaatcagaagaatc	8	9	3	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:114540853T>A	uc004eqa.2	+	4	460	c.426T>A	c.(424-426)AAT>AAA	p.N142K	LUZP4_uc004eqb.2_Missense_Mutation_p.N60K	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	142						nucleus				ovary(2)	2						CAGAAGGAAATCCGGACAAAT	0.463													A	114540853	T	A	114540853	3	1	191	1	0	0	0	0	1	0	0	0	9088	1432	50	5	440	5	LUZP4	23	114540853	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	4843473	114540853	40729707	2064	105084											
KLHL13	90293	broad.mit.edu	37	chrX	117043783	117043783	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatcagtggaaatcGtatgttcttcattaattttg	9	5	4	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:117043783G>A	uc004eql.2	-	5	909	c.847C>T	c.(847-849)CGA>TGA	p.R283*	KLHL13_uc004eqk.2_Nonsense_Mutation_p.R232*|KLHL13_uc011mtn.1_Nonsense_Mutation_p.R123*|KLHL13_uc011mto.1_Nonsense_Mutation_p.R277*|KLHL13_uc011mtp.1_Nonsense_Mutation_p.R285*|KLHL13_uc004eqm.2_Nonsense_Mutation_p.R232*|KLHL13_uc011mtq.1_Nonsense_Mutation_p.R267*	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	283	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						AGTGGAAATCGTATGTTCTTC	0.438													A	117043783	G	A	117043783	4	1	191	1	0	0	0	0	0	1	0	0	8369	1153	40	1	1132	1	KLHL13	23	117043783	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2502930	117043783	38226777	2065	105085											
WDR44	54521	broad.mit.edu	37	chrX	117532356	117532356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccttcttacagtaatgaCgcggcacagtcagatgatga	9	11	2	4			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:117532356C>T	uc004eqn.2	+	8	1622	c.1197C>T	c.(1195-1197)GAC>GAT	p.D399D	WDR44_uc004eqo.2_Silent_p.D399D|WDR44_uc011mtr.1_Silent_p.D374D|WDR44_uc010nqi.2_Silent_p.D109D	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	399						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						ACAGTAATGACGCGGCACAGT	0.353													T	117532356	C	T	117532356	2	4	191	1	0	0	0	0	0	0	0	1	17293	535	19	1		1	WDR44	23	117532356	Silent	SNP	C	TCGA-CG-5723-01A-11D-1600-08	488573	117532356	37738204	2066	105086											
UPF3B	65109	broad.mit.edu	37	chrX	118975216	118975217	+	Frame_Shift_Del	DEL	CA	CA	-													tcttctctcttttcttctctCattctctagaaagaaacatc							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:118975216_118975217delCA	uc004erz.1	-	7	706_707	c.629_630delTG	c.(628-630)ATGfs	p.M210fs	UPF3B_uc004esa.1_Frame_Shift_Del_p.M210fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	210	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				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			ovary(2)|kidney(1)	3						tttcttctCTCATTCTCTAGAA	0.183													-	118975217	CA	-	118975216	7	5	191	1	0	1	0	1	0	0	0	0	17003	826	29	0	841	0	UPF3B	23	118975216	Frame_Shift_Del	DEL	CA	TCGA-CG-5723-01A-11D-1600-08	1442860	118975216	36295344	2067	105087											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299494	125299494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccagcccggcctccttGtcccgcatgagggggatgcg	16	14	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:125299494G>A	uc004euk.1	-	1	441	c.414C>T	c.(412-414)GAC>GAT	p.D138D		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	138										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CGGCCTCCTTGTCCCGCATGA	0.652													A	125299494	G	A	125299494	2	1	191	1	0	0	0	0	0	0	0	1	4265	1368	48	4		4	DCAF12L2	23	125299494	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	6324278	125299494	29971066	2068	105088											
BCORL1	63035	broad.mit.edu	37	chrX	129149744	129149745	+	Frame_Shift_Ins	INS	-	-	C													catgagctggtcctggccacINScccccagaacctgcctaaga							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:129149743_129149744A>AC	uc022cdu.1	+	2	3039_3040	c.2995_2996A>AC	c.(2995-2997)accfs	p.T999fs	BCORL1_uc010nrd.1_Frame_Shift_Ins_p.T901fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	999					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						GGTCCTGGCCACCCCCCAGAAC	0.609													C	129149745	-	C	129149744	7	5	191	1	0	1	1	0	0	0	0	0	1387	507	18	0	3006	0	BCORL1	23	129149744	Frame_Shift_Ins	INS	-	TCGA-CG-5723-01A-11D-1600-08	3850250	129149744	26120816	2069	105089											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga					rs137862942		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:129190011delC	uc004evb.1	+	13	5150	c.5036delC	c.(5035-5037)TCCfs	p.S1679fs	BCORL1_uc004evc.1_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GACGACAGATCCCCCCCAGGC	0.602													-	129190011	C	-	129190011	7	5	191	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	40267	129190011	26080549	2070	105090											
HS6ST2	90161	broad.mit.edu	37	chrX	132091108	132091108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacacgatcaggtcatcGcccttgatgtcgaagtctac	10	11	3	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:132091108G>A	uc011mve.1	-	3	1091	c.675C>T	c.(673-675)GGC>GGT	p.G225G	HS6ST2_uc011mvb.1_Silent_p.G79G|HS6ST2_uc011mvc.1_Silent_p.G79G|HS6ST2_uc011mvd.1_Silent_p.G225G	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	225	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					TCAGGTCATCGCCCTTGATGT	0.627													A	132091108	G	A	132091108	2	1	191	1	0	0	0	0	0	0	0	1	7371	1074	38	1		1	HS6ST2	23	132091108	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	2901097	132091108	23179452	2071	105091											
RBMX	27316	broad.mit.edu	37	chrX	135956553	135956553	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtaatcatcatagcgActgcttccaccataagatgg	8	11	2	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:135956553A>T	uc004fae.1	-	9	1134	c.924T>A	c.(922-924)AGT>AGA	p.S308R	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Missense_Mutation_p.S269R|RBMX_uc004faf.1_Missense_Mutation_p.S169R|RBMX_uc010nsf.1_Missense_Mutation_p.S269R|RBMX_uc004fag.1_Missense_Mutation_p.S180R	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	308						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CATCATAGCGACTGCTTCCAC	0.507													T	135956553	A	T	135956553	3	4	191	1	0	0	0	0	1	0	0	0	13151	272	10	5	310	5	RBMX	23	135956553	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	3865445	135956553	19314007	2072	105092											
FGF13	2258	broad.mit.edu	37	chrX	137717759	137717759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatatcattgatgaatatgTcacataataattttcaaaca	4	5	3	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:137717759T>C	uc004fam.2	-	4	1122	c.460A>G	c.(460-462)ACA>GCA	p.T154A	FGF13_uc004fan.2_Missense_Mutation_p.T101A|FGF13_uc011mwi.1_Missense_Mutation_p.T135A|FGF13_uc004faq.2_Missense_Mutation_p.T164A|FGF13_uc004far.2_Missense_Mutation_p.T135A|FGF13_uc011mwj.1_Missense_Mutation_p.T164A|FGF13_uc011mwk.1_Missense_Mutation_p.T108A	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	154					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GATGAATATGTCACATAATAA	0.378													C	137717759	T	C	137717759	3	2	191	1	0	0	0	0	1	0	0	0	5842	1667	58	3	285	3	FGF13	23	137717759	Missense_Mutation	SNP	T	TCGA-CG-5723-01A-11D-1600-08	1761206	137717759	17552801	2073	105093											
FMR1	2332	broad.mit.edu	37	chrX	147019098	147019098	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacccatttttctcaaccTaacagtacaaaagtccagag	5	12	1	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:147019098T>C	uc010nst.2	+	11	1293	c.1104T>C	c.(1102-1104)CCT>CCC	p.P368P	FMR1_uc004fcj.2_Silent_p.P366P|FMR1_uc004fck.3_Silent_p.P368P|FMR1_uc004fcl.3_Silent_p.P229P|FMR1_uc011mxa.1_Silent_p.P36P	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	368					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					tttctcaacctaacagtacaa	0.204									Fragile_X_syndrome				C	147019098	T	C	147019098	2	2	191	1	0	0	0	0	0	0	0	1	5960	1509	53	3		3	FMR1	23	147019098	Silent	SNP	T	TCGA-CG-5723-01A-11D-1600-08	9301339	147019098	8251462	2074	105094											
PASD1	139135	broad.mit.edu	37	chrX	150842425	150842425	+	Frame_Shift_Del	DEL	C	C	-													atcctgaggcgtatcaagggCcccccgtgaaccagctgcca							TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:150842425delC	uc004fev.3	+	15	2274	c.1942delC	c.(1942-1944)CCCfs	p.P648fs		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCAAGGGCCCCCCGTGAA	0.458													-	150842425	C	-	150842425	7	5	191	1	0	1	0	1	0	0	0	0	11471	739	26	0	1996	0	PASD1	23	150842425	Frame_Shift_Del	DEL	C	TCGA-CG-5723-01A-11D-1600-08	3823327	150842425	4428135	2075	105095											
PRRG3	79057	broad.mit.edu	37	chrX	150869231	150869231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccggggtactgtgcataGccaaggggagccttctgggc	16	10	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:150869231G>A	uc004few.1	+	4	812	c.422G>A	c.(421-423)AGC>AAC	p.S141N		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	141	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGTGCATAGCCAAGGGGAG	0.687													A	150869231	G	A	150869231	3	1	191	1	0	0	0	0	1	0	0	0	12607	971	34	2	432	2	PRRG3	23	150869231	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	26806	150869231	4401329	2076	105096											
ZNF185	7739	broad.mit.edu	37	chrX	152135749	152135749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcattcgccatggagaagaAgcctccatgtggcagcactc	10	13	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:152135749A>C	uc010ntv.1	+	20	1872	c.1835A>C	c.(1834-1836)AAG>ACG	p.K612T	ZNF185_uc011myg.1_Missense_Mutation_p.K644T|ZNF185_uc011myh.1_Missense_Mutation_p.K615T|ZNF185_uc011myi.1_Missense_Mutation_p.K583T|ZNF185_uc011myj.1_Missense_Mutation_p.K553T|ZNF185_uc011myk.1_Missense_Mutation_p.K613T|ZNF185_uc004fgw.3_Missense_Mutation_p.K391T|ZNF185_uc004fgu.2_Missense_Mutation_p.K241T|ZNF185_uc004fgv.2_Missense_Mutation_p.K309T|ZNF185_uc004fgx.2_Missense_Mutation_p.K250T	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	612						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGAGAAGAAGCCTCCATGT	0.502													C	152135749	A	C	152135749	3	2	191	1	0	0	0	0	1	0	0	0	17749	72	3	5	2157	5	ZNF185	23	152135749	Missense_Mutation	SNP	A	TCGA-CG-5723-01A-11D-1600-08	1266518	152135749	3134811	2077	105097											
RENBP	5973	broad.mit.edu	37	chrX	153209078	153209078	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgaagatggttcgctGcaccttgaccgggcggccgt	13	13	1	3			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:153209078G>A	uc004fjo.1	-	5	552	c.382C>T	c.(382-384)CAG>TAG	p.Q128*	RENBP_uc011mzh.1_Nonsense_Mutation_p.Q128*	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	128					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	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)	ATGGTTCGCTGCACCTTGACC	0.607													A	153209078	G	A	153209078	4	1	191	1	0	0	0	0	0	1	0	0	13225	1328	46	2	929	2	RENBP	23	153209078	Nonsense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	1073329	153209078	2061482	2078	105098											
HCFC1	3054	broad.mit.edu	37	chrX	153218045	153218045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggctgcggcctgggcaGctgcttctgcagcagccgtc	15	15	1	0			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:153218045G>T	uc004fjp.2	-	19	5390	c.4862C>A	c.(4861-4863)GCT>GAT	p.A1621D		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1621					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGGCAGCTGCTTCTGC	0.697													T	153218045	G	T	153218045	3	4	191	1	0	0	0	0	1	0	0	0	6991	971	34	5	1277	5	HCFC1	23	153218045	Missense_Mutation	SNP	G	TCGA-CG-5723-01A-11D-1600-08	8967	153218045	2052515	2079	105099											
FLNA	2316	broad.mit.edu	37	chrX	153591075	153591075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagtaggtgggctcgtgGgccttgagccctgtcttggc	17	9	1	2			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:153591075G>A	uc004fkk.2	-	16	2607	c.2358C>T	c.(2356-2358)GCC>GCT	p.A786A	FLNA_uc010nuu.1_Silent_p.A786A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	786	Filamin 6.				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)					TGGGCTCGTGGGCCTTGAGCC	0.662													A	153591075	G	A	153591075	2	1	191	1	0	0	0	0	0	0	0	1	5933	1219	43	4		4	FLNA	23	153591075	Silent	SNP	G	TCGA-CG-5723-01A-11D-1600-08	373030	153591075	1679485	2080	105100											
EIF1AY	9086	broad.mit.edu	37	chrY	22741514	22741514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaggaggtaaaaacaggCgcaggggtaaaaatgagaat	14	3	0	1			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrY:22741514C>T	uc004fuk.2	+	2	184	c.37C>T	c.(37-39)CGC>TGC	p.R13C	EIF1AY_uc004ful.2_RNA	NM_004681	NP_004672	O14602	IF1AY_HUMAN	eukaryotic translation initiation factor 1A, Y	13						cytoplasm	protein binding|translation initiation factor activity				0						TAAAAACAGGCGCAGGGGTAA	0.274													T	22741514	C	T	22741514	3	4	191	1	0	0	0	0	1	0	0	0	4993	768	27	1	43	1	EIF1AY	24	22741514	Missense_Mutation	SNP	C	TCGA-CG-5723-01A-11D-1600-08		22741514	36632052	2081	105101											
SLC6A9	6536	broad.mit.edu	37	chr1	44467189	44467189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccgtggtctgccacaCgggacacatccacgcccagg	13	16	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:44467189C>T	uc001cll.2	-	9	1484	c.1292G>A	c.(1291-1293)CGT>CAT	p.R431H	SLC6A9_uc009vxe.2_Missense_Mutation_p.R287H|SLC6A9_uc010okm.1_Missense_Mutation_p.R358H|SLC6A9_uc001clm.2_Missense_Mutation_p.R377H|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R362H|SLC6A9_uc001cln.2_Missense_Mutation_p.R358H|SLC6A9_uc010oko.1_Missense_Mutation_p.R247H|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	431						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTCTGCCACACGGGACACATC	0.592													T	44467189	C	T	44467189	3	4	192	1	0	0	0	0	1	0	0	0	14691	536	19	1	852	1	SLC6A9	1	44467189	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08		44467189	204783432	1	105102											
NRD1	4898	broad.mit.edu	37	chr1	52260202	52260202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagagctttcactttgCatagatggtggccactgggc	12	9	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:52260202C>T	uc001ctc.3	-	26	3243	c.2921G>A	c.(2920-2922)TGC>TAC	p.C974Y	NRD1_uc009vzb.2_Missense_Mutation_p.C669Y|NRD1_uc001ctd.3_Missense_Mutation_p.C906Y|NRD1_uc001cte.2_Missense_Mutation_p.C842Y|NRD1_uc001ctf.2_Missense_Mutation_p.C906Y|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	905					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				0						TTTCACTTTGCATAGATGGTG	0.517													T	52260202	C	T	52260202	3	4	192	1	0	0	0	0	1	0	0	0	10645	710	25	2	770	2	NRD1	1	52260202	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	7793013	52260202	196990419	2	105103											
MAGI3	260425	broad.mit.edu	37	chr1	114201842	114201842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacattgttcagctgatcAaagatgctggtgtcaccgtc	9	9	3	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:114201842A>G	uc001edk.2	+	16	2951	c.2770A>G	c.(2770-2772)AAA>GAA	p.K924E	MAGI3_uc001edh.3_Missense_Mutation_p.K949E|MAGI3_uc001edi.3_Missense_Mutation_p.K924E|MAGI3_uc010owm.1_Missense_Mutation_p.K949E|MAGI3_uc001edj.2_Missense_Mutation_p.K645E	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	949	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	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)		TCAGCTGATCAAAGATGCTGG	0.498													G	114201842	A	G	114201842	3	3	192	1	0	0	0	0	1	0	0	0	9192	131	5	3	2832	3	MAGI3	1	114201842	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	61941640	114201842	135048779	3	105104											
SETDB1	9869	broad.mit.edu	37	chr1	150936523	150936523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcgtggatacccatgAtcttcgcttcccctgggtgg	11	12	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:150936523A>G	uc001evu.2	+	21	3912	c.3722A>G	c.(3721-3723)GAT>GGT	p.D1241G	SETDB1_uc001evv.2_Missense_Mutation_p.D1241G	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1241	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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			GATACCCATGATCTTCGCTTC	0.522													G	150936523	A	G	150936523	3	3	192	1	0	0	0	0	1	0	0	0	14138	333	12	3	3800	3	SETDB1	1	150936523	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	36734681	150936523	98314098	4	105105											
ASPM	259266	broad.mit.edu	37	chr1	197059184	197059184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctgggccatgttctcaCaacaaagtggagacaatcta	8	11	3	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:197059184C>T	uc001gtu.2	-	25	10117	c.9860G>A	c.(9859-9861)TGT>TAT	p.C3287Y	ASPM_uc001gtv.2_Missense_Mutation_p.C1702Y|ASPM_uc001gtw.3_Missense_Mutation_p.C1135Y	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3287					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CATGTTCTCACAACAAAGTGG	0.353													T	197059184	C	T	197059184	3	4	192	1	0	0	0	0	1	0	0	0	1056	478	17	4	589	4	ASPM	1	197059184	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	46122661	197059184	52191437	5	105106											
PFKFB2	5208	broad.mit.edu	37	chr1	207243623	207243623	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccatttccctccacAgtcataccaggacctggtgc	7	18	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:207243623A>C	uc001hfg.2	+	12	1202	c.1093_splice	c.e12-2	p.S365_splice	PFKFB2_uc010psc.1_Splice_Site_p.S267_splice|PFKFB2_uc001hfh.2_Splice_Site_p.S365_splice|PFKFB2_uc009xcc.2_Splice_Site_p.S323_splice|PFKFB2_uc010psd.1_Splice_Site_p.S179_splice	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,						fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					TTCCCTCCACAGTCATACCAG	0.607													C	207243623	A	C	207243623	5	2	192	1	0	0	0	0	0	0	1	0	11761	202	7	5	1133	5	PFKFB2	1	207243623	Splice_Site	SNP	A	TCGA-CG-5724-01A-11D-1600-08	10184439	207243623	42006998	6	105107											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415558	213415558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagatgggcagctgaaatGgtggtagcccttgatgcttt	13	7	0	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:213415558G>A	uc010ptr.1	+	11	2898	c.2739G>A	c.(2737-2739)ATG>ATA	p.M913I	RPS6KC1_uc001hkd.2_Missense_Mutation_p.M901I|RPS6KC1_uc010pts.1_Missense_Mutation_p.M701I|RPS6KC1_uc010ptt.1_Missense_Mutation_p.M701I|RPS6KC1_uc010ptu.1_Missense_Mutation_p.M732I|RPS6KC1_uc010ptv.1_Missense_Mutation_p.M448I|RPS6KC1_uc001hke.2_Missense_Mutation_p.M732I	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	913	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCTGAAATGGTGGTAGCCC	0.418													A	213415558	G	A	213415558	3	1	192	1	0	0	0	0	1	0	0	0	13658	1348	47	4	2781	4	RPS6KC1	1	213415558	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	6171935	213415558	35835063	7	105108											
VN1R5	317705	broad.mit.edu	37	chr1	247419489	247419489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttctaagatgatcaaacTtcctggttttattaccatat	4	9	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr1:247419489T>G	uc010pyu.1	+	1	116	c.116T>G	c.(115-117)CTT>CGT	p.L39R		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	39	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			ATGATCAAACTTCCTGGTTTT	0.338													G	247419489	T	G	247419489	3	3	192	1	0	0	0	0	1	0	0	0	17178	1609	56	5	118	5	VN1R5	1	247419489	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	34003931	247419489	1831132	8	105109											
TPO	7173	broad.mit.edu	37	chr2	1488506	1488506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagccgccttccgcttcGgccatgccacgatccacccg	8	21	0	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:1488506G>A	uc002qww.2	+	9	1568	c.1477G>A	c.(1477-1479)GGC>AGC	p.G493S	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.G493S|TPO_uc002qwr.2_Missense_Mutation_p.G493S|TPO_uc002qwx.2_Missense_Mutation_p.G493S|TPO_uc010yio.1_Missense_Mutation_p.G320S|TPO_uc010yip.1_Missense_Mutation_p.G493S|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	493	Extracellular (Potential).		G -> S (in TDH2A).		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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	CTTCCGCTTCGGCCATGCCAC	0.652													A	1488506	G	A	1488506	3	1	192	1	0	0	0	0	1	0	0	0	16407	1116	39	1	1507	1	TPO	2	1488506	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		1488506	241710867	9	105110											
APOB	338	broad.mit.edu	37	chr2	21229171	21229171	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgaagaccgtgtgctcttGgaattcaagtaagtgttggc	12	7	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:21229171G>C	uc002red.2	-	26	10697	c.10569C>G	c.(10567-10569)TCC>TCG	p.S3523S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3523					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTGCTCTTGGAATTCAAGT	0.433													C	21229171	G	C	21229171	2	2	192	1	0	0	0	0	0	0	0	1	785	1335	47	5		5	APOB	2	21229171	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	19740665	21229171	221970202	10	105111											
ADD2	119	broad.mit.edu	37	chr2	70933534	70933534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctcggggaccgtctcttCgctcattttcccggtgggtt	12	13	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:70933534C>T	uc002sgz.2	-	3	472	c.7G>A	c.(7-9)GAA>AAA	p.E3K	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.E3K|ADD2_uc002sha.2_Missense_Mutation_p.E3K|ADD2_uc002sgx.2_Missense_Mutation_p.E3K|ADD2_uc010fdt.1_Missense_Mutation_p.E3K|ADD2_uc002shc.1_Missense_Mutation_p.E3K|ADD2_uc002shd.1_Missense_Mutation_p.E3K|ADD2_uc010fdu.1_Missense_Mutation_p.E19K	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	3					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			ovary(2)|pancreas(1)	3						ACCGTCTCTTCGCTCATTTTC	0.617													T	70933534	C	T	70933534	3	4	192	1	0	0	0	0	1	0	0	0	305	893	31	1	2410	1	ADD2	2	70933534	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	49704363	70933534	172265839	11	105112											
C2orf65	130951	broad.mit.edu	37	chr2	74867167	74867167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagatatacttaccacaAaagggaggatgcactcatgc	8	8	1	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:74867167A>G	uc002smy.2	-	2	353	c.236T>C	c.(235-237)TTT>TCT	p.F79S	C2orf65_uc010ysa.1_Missense_Mutation_p.F79S|C2orf65_uc002smz.2_Missense_Mutation_p.F79S	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	79					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						ACTTACCACAAAAGGGAGGAT	0.274													G	74867167	A	G	74867167	3	3	192	1	0	0	0	0	1	0	0	0	2184	14	1	3	1396	3	C2orf65	2	74867167	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	3933633	74867167	168332206	12	105113											
LRP1B	53353	broad.mit.edu	37	chr2	141625236	141625236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatcacactgacattcTgccctgtccacttattggct	6	13	3	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:141625236T>G	uc002tvj.1	-	27	5474	c.4502A>C	c.(4501-4503)CAG>CCG	p.Q1501P	LRP1B_uc010fnl.1_Missense_Mutation_p.Q683P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1501	Extracellular (Potential).|LDL-receptor class B 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ACTGACATTCTGCCCTGTCCA	0.478										TSP Lung(27;0.18)			G	141625236	T	G	141625236	3	3	192	1	0	0	0	0	1	0	0	0	8955	1580	55	5	9557	5	LRP1B	2	141625236	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	66758069	141625236	101574137	13	105114											
BAZ2B	29994	broad.mit.edu	37	chr2	160176909	160176909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcctgacatctagagcaAaggtttcaaggtttggatac	10	8	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:160176909A>G	uc002uao.2	-	37	6726	c.6374T>C	c.(6373-6375)TTT>TCT	p.F2125S	BAZ2B_uc002uap.2_Missense_Mutation_p.F2089S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2125	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						ATCTAGAGCAAAGGTTTCAAG	0.338													G	160176909	A	G	160176909	3	3	192	1	0	0	0	0	1	0	0	0	1332	14	1	3	136	3	BAZ2B	2	160176909	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	18551673	160176909	83022464	14	105115											
CALCRL	10203	broad.mit.edu	37	chr2	188210976	188210976	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatgctttttccatttaAgtgttcactaggacagtcat	8	7	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:188210976A>C	uc002upv.3	-	15	1869	c.1321T>G	c.(1321-1323)TTA>GTA	p.L441V	CALCRL_uc010frt.2_Missense_Mutation_p.L441V	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	441	Cytoplasmic (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTTCCATTTAAGTGTTCACTA	0.358													C	188210976	A	C	188210976	3	2	192	1	0	0	0	0	1	0	0	0	2580	69	3	5	68	5	CALCRL	2	188210976	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	28034067	188210976	54988397	15	105116											
IQCA1	79781	broad.mit.edu	37	chr2	237405873	237405873	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgagttccagctccaccAtctcgttcttcagctccagg	8	16	3	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:237405873A>T	uc002vvz.1	-	2	451	c.269T>A	c.(268-270)ATG>AAG	p.M90K	IQCA1_uc002vwb.2_Missense_Mutation_p.M97K|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.M90K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	90							ATP binding			ovary(1)	1						CAGCTCCACCATCTCGTTCTT	0.507													T	237405873	A	T	237405873	3	4	192	1	0	0	0	0	1	0	0	0	7802	217	8	5	2271	5	IQCA1	2	237405873	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	49194897	237405873	5793500	16	105117											
MLPH	79083	broad.mit.edu	37	chr2	238449573	238449573	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacagagtggcagtgacggcCtcagaagtccagcaggcaga	15	10	1	4			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr2:238449573C>G	uc002vwt.2	+	11	1646	c.1419C>G	c.(1417-1419)GCC>GCG	p.A473A	MLPH_uc002vws.2_Silent_p.A330A|MLPH_uc010fyt.1_Silent_p.A445A|MLPH_uc002vwu.2_Silent_p.A445A|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Silent_p.A329A|MLPH_uc010fyu.2_Silent_p.A225A	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	473	Potential.						metal ion binding			ovary(1)	1		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)		CAGTGACGGCCTCAGAAGTCC	0.592													G	238449573	C	G	238449573	2	3	192	1	0	0	0	0	0	0	0	1	9633	668	24	5		5	MLPH	2	238449573	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	1043700	238449573	4749800	17	105118											
HACL1	26061	broad.mit.edu	37	chr3	15613246	15613246	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctctctggaggatactGccatggtgttttatcaagtt	10	8	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr3:15613246G>A	uc003caf.2	-	12	1184	c.1024C>T	c.(1024-1026)CAG>TAG	p.Q342*	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Nonsense_Mutation_p.Q315*|HACL1_uc011avt.1_Intron|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Nonsense_Mutation_p.Q260*|HACL1_uc010hep.2_Nonsense_Mutation_p.Q101*	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	342					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						GGAGGATACTGCCATGGTGTT	0.343													A	15613246	G	A	15613246	4	1	192	1	0	0	0	0	0	1	0	0	6941	1328	46	2	736	2	HACL1	3	15613246	Nonsense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		15613246	182409184	18	105119											
NEK10	152110	broad.mit.edu	37	chr3	27216205	27216205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcacaggccctgtcttcGtctttaccataggaggcctg	10	13	3	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr3:27216205G>A	uc010hfk.2	-	6	790	c.561C>T	c.(559-561)GAC>GAT	p.D187D	NEK10_uc003cds.1_Silent_p.D272D|NEK10_uc010hfj.2_Silent_p.D187D			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	875							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						CCCTGTCTTCGTCTTTACCAT	0.512													A	27216205	G	A	27216205	2	1	192	1	0	0	0	0	0	0	0	1	10322	1160	40	1		1	NEK10	3	27216205	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	11602959	27216205	170806225	19	105120											
KBTBD5	131377	broad.mit.edu	37	chr3	42733380	42733380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcatccccaggtataaCgaggaggagaagaaatggga	12	8	2	2	rs142843476	by1000genomes	TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr3:42733380C>T	uc003clv.1	+	6	1861	c.1761C>T	c.(1759-1761)AAC>AAT	p.N587N		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	587	Kelch 5.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CCAGGTATAACGAGGAGGAGA	0.582													T	42733380	C	T	42733380	2	4	192	1	0	0	0	0	0	0	0	1	7996	535	19	1		1	KBTBD5	3	42733380	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	15517175	42733380	155289050	20	105121											
DRD3	1814	broad.mit.edu	37	chr3	113890790	113890790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacctgtggagttctctGccccacaggtgtagttcagg	13	11	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr3:113890790G>A	uc003ebd.2	-	3	473	c.50C>T	c.(49-51)GCA>GTA	p.A17V	DRD3_uc010hqn.1_Missense_Mutation_p.A17V|DRD3_uc003ebb.1_Missense_Mutation_p.A17V|DRD3_uc003ebc.1_Missense_Mutation_p.A17V	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	17	Extracellular (Probable).				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			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGAGTTCTCTGCCCCACAGGT	0.617													A	113890790	G	A	113890790	3	1	192	1	0	0	0	0	1	0	0	0	4758	1319	46	2	1176	2	DRD3	3	113890790	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	71157410	113890790	84131640	21	105122											
TMEM108	66000	broad.mit.edu	37	chr3	133099271	133099271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccctcacccccaggaCcccactctggggctactcct	6	21	3	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr3:133099271C>T	uc003eph.2	+	4	990	c.716C>T	c.(715-717)ACC>ATC	p.T239I	TMEM108_uc003epi.2_Missense_Mutation_p.T239I|TMEM108_uc003epj.1_Missense_Mutation_p.T239I|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.T190I	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	239	Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)	4						ACCCCCAGGACCCCACTCTGG	0.627													T	133099271	C	T	133099271	3	4	192	1	0	0	0	0	1	0	0	0	16021	507	18	4	722	4	TMEM108	3	133099271	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	19208481	133099271	64923159	22	105123											
P2RY12	64805	broad.mit.edu	37	chr3	151056447	151056447	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaatgactgtgttcttaaGaaaaataataaagtttgatt	7	2	1	4			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr3:151056447G>A	uc003eyw.1	-	2	403	c.187C>T	c.(187-189)CTT>TTT	p.L63F	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Missense_Mutation_p.L63F|P2RY12_uc003eyx.1_Missense_Mutation_p.L63F	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	63	Helical; Name=2; (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GTGTTCTTAAGAAAAATAATA	0.368													A	151056447	G	A	151056447	3	1	192	1	0	0	0	0	1	0	0	0	11349	942	33	4	845	4	P2RY12	3	151056447	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	17957176	151056447	46965983	23	105124											
ZMAT3	64393	broad.mit.edu	37	chr3	178785396	178785396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgataactcttcttcccCtgcaagaggcaaggaagcct	8	13	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr3:178785396C>T	uc003fjg.2	-	2	404	c.145G>A	c.(145-147)GGG>AGG	p.G49R	ZMAT3_uc010hxa.2_Missense_Mutation_p.G49R|ZMAT3_uc003fji.2_Missense_Mutation_p.G49R	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	49					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TCTTCTTCCCCTGCAAGAGGC	0.557													T	178785396	C	T	178785396	3	4	192	1	0	0	0	0	1	0	0	0	17690	681	24	4	744	4	ZMAT3	3	178785396	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	27728949	178785396	19237034	24	105125											
RGS12	6002	broad.mit.edu	37	chr4	3317869	3317869	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaagggaacaatgagaCgtgctcttggtcttggaagc	13	9	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:3317869C>T	uc003ggw.2	+	2	876	c.-28C>T	c.(-30--26)GACGT>GATGT		RGS12_uc003ggu.2_Translation_Start_Site|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Translation_Start_Site|RGS12_uc003ggx.1_Translation_Start_Site	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1							condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACAATGAGACGTGCTCTTGG	0.507													T	3317869	C	T	3317869	1	4	192	1	0	0	0	0	0	0	0	0	13295	551	19	1		1	RGS12	4	3317869	Translation_Start_Site	SNP	C	TCGA-CG-5724-01A-11D-1600-08		3317869	187836407	25	105126											
CCDC96	257236	broad.mit.edu	37	chr4	7043264	7043264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctagggcggcctgggcctCgatttctgccagctgtgtct	13	13	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:7043264C>T	uc003gjv.2	-	1	1465	c.1402G>A	c.(1402-1404)GAG>AAG	p.E468K	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	468											0						GCCTGGGCCTCGATTTCTGCC	0.547													T	7043264	C	T	7043264	3	4	192	1	0	0	0	0	1	0	0	0	2874	893	31	1	269	1	CCDC96	4	7043264	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	3725395	7043264	184111012	26	105127											
AFAP1	60312	broad.mit.edu	37	chr4	7795508	7795508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacgatcccgtctctgCgagtaaaatcccaatccacc	8	14	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:7795508C>T	uc003gkg.1	-	11	1585	c.1312G>A	c.(1312-1314)GCA>ACA	p.A438T	AFAP1_uc011bwk.1_Missense_Mutation_p.A438T	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	438	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						CCCGTCTCTGCGAGTAAAATC	0.453													T	7795508	C	T	7795508	3	4	192	1	0	0	0	0	1	0	0	0	353	768	27	1	1164	1	AFAP1	4	7795508	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	752244	7795508	183358768	27	105128											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68964625	68964625	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacaacaaaatgagtaAcaataccaattgcaattcct	3	11	1	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:68964625A>C	uc003hdt.1	-	2	192	c.143T>G	c.(142-144)GTT>GGT	p.V48G		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	48	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						AAAATGAGTAACAATACCAAT	0.373													C	68964625	A	C	68964625	3	2	192	1	0	0	0	0	1	0	0	0	16240	43	2	5	1209	5	TMPRSS11F	4	68964625	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	61169117	68964625	122189651	28	105129											
YTHDC1	91746	broad.mit.edu	37	chr4	69197837	69197837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataccttcgctttggcaagaGacacattctcatggttgtta	8	9	1	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:69197837G>C	uc003hdx.2	-	7	1459	c.1106C>G	c.(1105-1107)TCT>TGT	p.S369C	YTHDC1_uc003hdy.2_Missense_Mutation_p.S351C	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	369	YTH.									upper_aerodigestive_tract(1)|ovary(1)	2						TTTGGCAAGAGACACATTCTC	0.313													C	69197837	G	C	69197837	3	2	192	1	0	0	0	0	1	0	0	0	17493	942	33	5	1121	5	YTHDC1	4	69197837	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	233212	69197837	121956439	29	105130											
DDIT4L	115265	broad.mit.edu	37	chr4	101109017	101109017	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacacaagtgtaagctcaaaAgtaggtacgacgctagaatc	9	8	1	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:101109017A>C	uc003hvq.2	-	3	602	c.399T>G	c.(397-399)ACT>ACG	p.T133T		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	133					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TAAGCTCAAAAGTAGGTACGA	0.438													C	101109017	A	C	101109017	2	2	192	1	0	0	0	0	0	0	0	1	4332	59	3	5		5	DDIT4L	4	101109017	Silent	SNP	A	TCGA-CG-5724-01A-11D-1600-08	31911180	101109017	90045259	30	105131											
TRPC3	7222	broad.mit.edu	37	chr4	122853995	122853995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagtccacgcagttgaCgttcagcgtcttggactcct	10	12	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:122853995C>T	uc003ieg.2	-	2	492	c.418G>A	c.(418-420)GTC>ATC	p.V140I	TRPC3_uc010inr.2_Missense_Mutation_p.V67I|TRPC3_uc003ief.2_Missense_Mutation_p.V67I|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	55	Cytoplasmic (Potential).|ANK 1.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ACGCAGTTGACGTTCAGCGTC	0.637													T	122853995	C	T	122853995	3	4	192	1	0	0	0	0	1	0	0	0	16576	536	19	1	2391	1	TRPC3	4	122853995	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	21744978	122853995	68300281	31	105132											
VEGFC	7424	broad.mit.edu	37	chr4	177608362	177608362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtttggtggtggaacTtctttccttttaacaagcat	9	7	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr4:177608362T>C	uc003ius.1	-	6	1554	c.1124A>G	c.(1123-1125)AAG>AGG	p.K375R		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	375					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			lung(5)	5		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)		GTGGTGGAACTTCTTTCCTTT	0.368													C	177608362	T	C	177608362	3	2	192	1	0	0	0	0	1	0	0	0	17149	1609	56	3	146	3	VEGFC	4	177608362	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	54754367	177608362	13545914	32	105133											
ADCY2	108	broad.mit.edu	37	chr5	7698445	7698445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctccctaaccatgccaAgaactgtgtgaaaatggggc	9	11	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr5:7698445A>G	uc003jdz.1	+	7	1134	c.1067A>G	c.(1066-1068)AAG>AGG	p.K356R	ADCY2_uc011cmo.1_Missense_Mutation_p.K176R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	356	Cytoplasmic (Potential).				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			ovary(5)|pancreas(1)|skin(1)	7						AACCATGCCAAGAACTGTGTG	0.333													G	7698445	A	G	7698445	3	3	192	1	0	0	0	0	1	0	0	0	294	72	3	3	1093	3	ADCY2	5	7698445	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08		7698445	173216815	33	105134											
CDH10	1008	broad.mit.edu	37	chr5	24537713	24537713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcatcaataataaaaAgagtaccagctccatctcca	3	10	3	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr5:24537713A>G	uc003jgr.1	-	3	634	c.302T>C	c.(301-303)CTT>CCT	p.L101P	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	101	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AATAATAAAAAGAGTACCAGC	0.373										HNSCC(23;0.051)			G	24537713	A	G	24537713	3	3	192	1	0	0	0	0	1	0	0	0	3096	72	3	3	2104	3	CDH10	5	24537713	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	16839268	24537713	156377547	34	105135											
ADAMTS12	81792	broad.mit.edu	37	chr5	33549454	33549454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacgcactgaatctcgCgtatcttgaagcccccactg	8	15	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr5:33549454C>T	uc003jia.1	-	21	4323	c.4160G>A	c.(4159-4161)CGC>CAC	p.R1387H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1302H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1387	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CTGAATCTCGCGTATCTTGAA	0.557										HNSCC(64;0.19)			T	33549454	C	T	33549454	3	4	192	1	0	0	0	0	1	0	0	0	257	768	27	1	640	1	ADAMTS12	5	33549454	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	9011741	33549454	147365806	35	105136											
GPR98	84059	broad.mit.edu	37	chr5	90012394	90012394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgtccaggagagtgttGcagtattgtacattgttcgg	12	7	1	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr5:90012394G>A	uc003kju.2	+	43	9391	c.9295G>A	c.(9295-9297)GCA>ACA	p.A3099T	GPR98_uc003kjt.2_Missense_Mutation_p.A805T|GPR98_uc003kjv.2_Missense_Mutation_p.A699T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3099	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		GGAGAGTGTTGCAGTATTGTA	0.428													A	90012394	G	A	90012394	3	1	192	1	0	0	0	0	1	0	0	0	6721	1319	46	2	9465	2	GPR98	5	90012394	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	56462940	90012394	90902866	36	105137											
PCDHA6	56142	broad.mit.edu	37	chr5	140209731	140209731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcacgggcgtcggtgggCgccgcgggcccagaggcggc	19	14	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr5:140209731C>T	uc003lho.2	+	1	2082	c.2055C>T	c.(2053-2055)GGC>GGT	p.G685G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.G685G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	685	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGTGGGCGCCGCGGGCC	0.662													T	140209731	C	T	140209731	2	4	192	1	0	0	0	0	0	0	0	1	11528	755	27	1		1	PCDHA6	5	140209731	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	50197337	140209731	40705529	37	105138											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755518	140755518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcagtgggcctgcacaCgggcgaggtgcgcacggcgc	16	13	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr5:140755518C>T	uc003ljy.1	+	1	1868	c.1868C>T	c.(1867-1869)ACG>ATG	p.T623M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.T623M	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	623	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGCACACGGGCGAGGTG	0.692													T	140755518	C	T	140755518	3	4	192	1	0	0	0	0	1	0	0	0	11558	536	19	1	1870	1	PCDHGA6	5	140755518	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	545787	140755518	40159742	38	105139											
PCDHGC5	56097	broad.mit.edu	37	chr5	140792993	140792998	+	In_Frame_Del	DEL	GCAGCG	GCAGCG	-													gcttttctctctgaacccgcGcagcggcagcttgatcaccg					rs138985917	by1000genomes	TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr5:140792992_140792997CGCAGCG>C	uc003lkl.2	+	0	250_255	c.250_255CGCAGCG>C	c.(250-255)cgcagc>C	p.RS84del	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_In_Frame_Del_p.RS84del	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	80	Cadherin 1.				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)			TCTGAACCCGCGCAGCGGCAGCTTGA	0.621													-	140792998	GCAGCG	-	140792993	7	5	192	1	0	1	0	1	0	0	0	0	11571	1087	38	0		0	PCDHGC5	5	140792993	In_Frame_Del	DEL	GCAGCG	TCGA-CG-5724-01A-11D-1600-08	37475	140792993	40122267	39	105140											
EXOC2	55770	broad.mit.edu	37	chr6	564037	564037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatcaaaacacaccttcCgccgtgtgctgcaacgtggc	8	13	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:564037C>T	uc003mtd.2	-	16	1919	c.1785G>A	c.(1783-1785)GCG>GCA	p.A595A	EXOC2_uc003mte.2_Silent_p.A595A|EXOC2_uc011dho.1_Silent_p.A190A	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	595					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	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)		ACACACCTTCCGCCGTGTGCT	0.453													T	564037	C	T	564037	2	4	192	1	0	0	0	0	0	0	0	1	5302	639	23	1		1	EXOC2	6	564037	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08		564037	170551030	40	105141											
MDC1	9656	broad.mit.edu	37	chr6	30675783	30675783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaactgtttttgttctctgTcctgtttccccttggttaat	6	10	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:30675783T>C	uc003nrg.3	-	8	3013	c.2573A>G	c.(2572-2574)GAC>GGC	p.D858G	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	858				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)|ovary(1)|kidney(1)	4						TTGTTCTCTGTCCTGTTTCCC	0.458								Other_conserved_DNA_damage_response_genes					C	30675783	T	C	30675783	3	2	192	1	0	0	0	0	1	0	0	0	9403	1667	58	3	3728	3	MDC1	6	30675783	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	30111746	30675783	140439284	41	105142											
ATF6B	1388	broad.mit.edu	37	chr6	32095981	32095981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagcatcagctccgCcatctttcccccccaccccc	6	22	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:32095981C>T	uc003nzn.2	-	1	37	c.4G>A	c.(4-6)GCG>ACG	p.A2T	ATF6B_uc003nzo.2_Missense_Mutation_p.A2T|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_Missense_Mutation_p.A2T	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	2	Cytoplasmic (Potential).|Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ATCAGCTCCGCCATCTTTCCC	0.612													T	32095981	C	T	32095981	3	4	192	1	0	0	0	0	1	0	0	0	1085	739	26	2	2179	2	ATF6B	6	32095981	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	1420198	32095981	139019086	42	105143											
SLC29A1	2030	broad.mit.edu	37	chr6	44197722	44197722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgccatcctggtgaaGgtgcagctggatgctctgcc	12	12	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:44197722G>A	uc003owu.1	+	5	722	c.393G>A	c.(391-393)AAG>AAA	p.K131K	SLC29A1_uc011dvp.1_Silent_p.K150K|SLC29A1_uc003owv.1_Silent_p.K131K|SLC29A1_uc003oww.1_Silent_p.K210K|SLC29A1_uc011dvq.1_Silent_p.K173K|SLC29A1_uc003owx.1_Silent_p.K131K|SLC29A1_uc003owy.1_Silent_p.K131K|SLC29A1_uc003owz.1_Silent_p.K131K	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	131	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	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)	TCCTGGTGAAGGTGCAGCTGG	0.587													A	44197722	G	A	44197722	2	1	192	1	0	0	0	0	0	0	0	1	14534	991	35	4		4	SLC29A1	6	44197722	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	12101741	44197722	126917345	43	105144											
CD2AP	23607	broad.mit.edu	37	chr6	47547178	47547178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggtaaagaaggagtatttCcagacaattttgctgtccag	10	6	0	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:47547178C>T	uc003oyw.2	+	9	1417	c.961C>T	c.(961-963)CCA>TCA	p.P321S		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	321	SH3 3.				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			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGAGTATTTCCAGACAATTT	0.343													T	47547178	C	T	47547178	3	4	192	1	0	0	0	0	1	0	0	0	2994	855	30	4	995	4	CD2AP	6	47547178	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	3349456	47547178	123567889	44	105145											
PKHD1	5314	broad.mit.edu	37	chr6	51637574	51637574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcactgtaaagatgaacTttcccataaacccctgaaaa	5	10	0	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:51637574T>G	uc003pah.1	-	55	8844	c.8568A>C	c.(8566-8568)AAA>AAC	p.K2856N	PKHD1_uc010jzn.1_Missense_Mutation_p.K839N|PKHD1_uc003pai.2_Missense_Mutation_p.K2856N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2856	G8 2.|Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AAAGATGAACTTTCCCATAAA	0.408													G	51637574	T	G	51637574	3	3	192	1	0	0	0	0	1	0	0	0	11971	1606	56	5	3747	5	PKHD1	6	51637574	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	4090396	51637574	119477493	45	105146											
C6orf142	90523	broad.mit.edu	37	chr6	53989433	53989433	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaagtgacctcttcaaagctGaatatgtccttattgtggac	8	8	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:53989433G>C	uc003pcg.3	+	3	495	c.382G>C	c.(382-384)GAA>CAA	p.E128Q	C6orf142_uc003pcf.2_Missense_Mutation_p.E128Q|C6orf142_uc003pch.3_Missense_Mutation_p.E66Q|C6orf142_uc011dwz.1_Missense_Mutation_p.E87Q|C6orf142_uc011dxa.1_Missense_Mutation_p.E139Q	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	128						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CTTCAAAGCTGAATATGTCCT	0.498													C	53989433	G	C	53989433	3	2	192	1	0	0	0	0	1	0	0	0	2333	1291	45	5	392	5	C6orf142	6	53989433	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	2351859	53989433	117125634	46	105147											
SNX14	57231	broad.mit.edu	37	chr6	86238069	86238069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttagaaggaagctgggcatCaggaaatgcacctgaaatta	11	7	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:86238069C>T	uc003pkr.2	-	20	2099	c.1906G>A	c.(1906-1908)GAT>AAT	p.D636N	SNX14_uc003pkp.2_Missense_Mutation_p.D499N|SNX14_uc003pkq.2_Missense_Mutation_p.D242N|SNX14_uc011dzg.1_Missense_Mutation_p.D584N|SNX14_uc003pks.2_Missense_Mutation_p.D583N|SNX14_uc003pkt.2_Missense_Mutation_p.D627N	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	636	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		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)		AGCTGGGCATCAGGAAATGCA	0.318													T	86238069	C	T	86238069	3	4	192	1	0	0	0	0	1	0	0	0	14885	826	29	4	974	4	SNX14	6	86238069	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	32248636	86238069	84876998	47	105148											
TAAR2	9287	broad.mit.edu	37	chr6	132938378	132938378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgtacttcagtgctctgcGaaaccagggatagaagaaac	10	8	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:132938378G>A	uc003qdl.1	-	2	967	c.967C>T	c.(967-969)CGC>TGC	p.R323C	TAAR2_uc010kfr.1_Missense_Mutation_p.R278C	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	323	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGTGCTCTGCGAAACCAGGGA	0.363													A	132938378	G	A	132938378	3	1	192	1	0	0	0	0	1	0	0	0	15487	1058	37	1	92	1	TAAR2	6	132938378	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	46700309	132938378	38176689	48	105149											
SYNE1	23345	broad.mit.edu	37	chr6	152485429	152485429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttatcaagctgctgcaCggctaccagggtctccttca	9	13	4	0	rs143842011	byFrequency	TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:152485429C>T	uc010kiw.2	-	131	24261	c.23659G>A	c.(23659-23661)GTG>ATG	p.V7887M	SYNE1_uc010kiv.2_Missense_Mutation_p.V2411M|SYNE1_uc003qos.3_Missense_Mutation_p.V2411M|SYNE1_uc003qot.3_Missense_Mutation_p.V7816M|SYNE1_uc003qou.3_Missense_Mutation_p.V7887M|SYNE1_uc003qop.3_Missense_Mutation_p.V49M|SYNE1_uc011eez.1_Missense_Mutation_p.V89M|SYNE1_uc003qoq.3_Missense_Mutation_p.V89M|SYNE1_uc003qor.3_Missense_Mutation_p.V787M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7887	Spectrin 28.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTGCTGCACGGCTACCAGG	0.557										HNSCC(10;0.0054)			T	152485429	C	T	152485429	3	4	192	1	0	0	0	0	1	0	0	0	15442	536	19	1	2871	1	SYNE1	6	152485429	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	19547051	152485429	18629638	49	105150											
SYNE1	23345	broad.mit.edu	37	chr6	152711423	152711423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggttctgtacctttgagcGtggacggaggagctcatgat	14	7	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr6:152711423G>A	uc010kiw.2	-	53	8771	c.8169C>T	c.(8167-8169)CAC>CAT	p.H2723H	SYNE1_uc003qot.3_Silent_p.H2730H|SYNE1_uc003qou.3_Silent_p.H2723H|SYNE1_uc010kjb.1_Silent_p.H2706H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2723	Cytoplasmic (Potential).|HAT 5.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTTGAGCGTGGACGGAGG	0.458										HNSCC(10;0.0054)			A	152711423	G	A	152711423	2	1	192	1	0	0	0	0	0	0	0	1	15442	1136	40	1		1	SYNE1	6	152711423	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	225994	152711423	18403644	50	105151											
ZNF804B	219578	broad.mit.edu	37	chr7	88965033	88965033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcagaaaccacagaaTcaaacactgcagaaggagag	9	11	2	4			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr7:88965033T>G	uc011khi.1	+	4	3275	c.2737T>G	c.(2737-2739)TCA>GCA	p.S913A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	913						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACCACAGAATCAAACACTGC	0.428										HNSCC(36;0.09)			G	88965033	T	G	88965033	3	3	192	1	0	0	0	0	1	0	0	0	18168	1435	50	5	2751	5	ZNF804B	7	88965033	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08		88965033	70173630	51	105152											
COL1A2	1278	broad.mit.edu	37	chr7	94057073	94057073	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacccaaggactatgaAgttgatgctactctgaagtc	9	10	2	4			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr7:94057073A>C	uc003ung.1	+	49	3873	c.3402A>C	c.(3400-3402)GAA>GAC	p.E1134D	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1134	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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGACTATGAAGTTGATGCTA	0.507										HNSCC(75;0.22)			C	94057073	A	C	94057073	3	2	192	1	0	0	0	0	1	0	0	0	3678	69	3	5	3596	5	COL1A2	7	94057073	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	5092040	94057073	65081590	52	105153											
PDAP1	11333	broad.mit.edu	37	chr7	98994334	98994334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggagagtgactgcattcGttttcctgacaatgtggcat	12	8	0	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr7:98994334G>C	uc003uqe.2	-	6	638	c.517C>G	c.(517-519)CGA>GGA	p.R173G		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	173					cell proliferation|signal transduction						0	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)	GACTGCATTCGTTTTCCTGAC	0.597													C	98994334	G	C	98994334	3	2	192	1	0	0	0	0	1	0	0	0	11613	1153	40	5	32	5	PDAP1	7	98994334	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	4937261	98994334	60144329	53	105154											
CPA5	93979	broad.mit.edu	37	chr7	129999462	129999462	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggaaagacaggccatggcGaaatcccgccggctggagcg	16	11	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr7:129999462G>A	uc010lmd.1	+	7	986	c.366G>A	c.(364-366)GCG>GCA	p.A122A	CPA5_uc003vps.2_Silent_p.A122A|CPA5_uc003vpt.2_Silent_p.A122A|CPA5_uc010lme.1_Silent_p.A122A|CPA5_uc003vpu.1_Silent_p.A122A	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	122					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					AGGCCATGGCGAAATCCCGCC	0.592													A	129999462	G	A	129999462	2	1	192	1	0	0	0	0	0	0	0	1	3793	1045	37	1		1	CPA5	7	129999462	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	31005128	129999462	29139201	54	105155											
CSMD1	64478	broad.mit.edu	37	chr8	2820151	2820151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggatgccagggtctccGcagaacacagctatggaaga	15	10	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:2820151G>A	uc011kwk.1	-	61	9858	c.9468C>T	c.(9466-9468)TGC>TGT	p.C3156C	CSMD1_uc011kwj.1_Silent_p.C2485C|CSMD1_uc010lrg.2_Silent_p.C1047C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3156	Extracellular (Potential).|Sushi 26.					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)		CAGGGTCTCCGCAGAACACAG	0.468													A	2820151	G	A	2820151	2	1	192	1	0	0	0	0	0	0	0	1	3944	1079	38	1		1	CSMD1	8	2820151	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08		2820151	143543871	55	105156											
CSMD1	64478	broad.mit.edu	37	chr8	3245020	3245020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagctgtacctaccgtcGcagctgggcaaggcgtggtt	14	11	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:3245020G>A	uc011kwk.1	-	18	3171	c.2781C>T	c.(2779-2781)TGC>TGT	p.C927C	CSMD1_uc011kwj.1_Silent_p.C319C|CSMD1_uc003wqe.2_Silent_p.C83C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	927	Extracellular (Potential).|Sushi 5.					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)		ACCTACCGTCGCAGCTGGGCA	0.587													A	3245020	G	A	3245020	2	1	192	1	0	0	0	0	0	0	0	1	3944	1079	38	1		1	CSMD1	8	3245020	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	424869	3245020	143119002	56	105157											
CSMD1	64478	broad.mit.edu	37	chr8	3253803	3253803	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcccggtgctgatgaggaActggggtgcctgggtgccgt	18	9	0	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:3253803A>C	uc011kwk.1	-	17	2899	c.2509T>G	c.(2509-2511)TTC>GTC	p.F837V	CSMD1_uc011kwj.1_Missense_Mutation_p.F229V|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	837	Extracellular (Potential).|CUB 5.					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)		CTGATGAGGAACTGGGGTGCC	0.557													C	3253803	A	C	3253803	3	2	192	1	0	0	0	0	1	0	0	0	3944	43	2	5	8404	5	CSMD1	8	3253803	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	8783	3253803	143110219	57	105158											
SOX7	83595	broad.mit.edu	37	chr8	10583429	10583429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactggtcgaattcattgCgatccatgtcccccaggagt	9	11	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:10583429C>T	uc003wtf.2	-	2	1065	c.986G>A	c.(985-987)CGC>CAC	p.R329H	SOX7_uc011kwz.1_Missense_Mutation_p.R381H	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	329	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)	1				COAD - Colon adenocarcinoma(149;0.0732)		GAATTCATTGCGATCCATGTC	0.622													T	10583429	C	T	10583429	3	4	192	1	0	0	0	0	1	0	0	0	14956	768	27	1	184	1	SOX7	8	10583429	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	7329626	10583429	135780593	58	105159											
SH2D4A	63898	broad.mit.edu	37	chr8	19192367	19192367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggaagaagagaaaatccGagtgagtccttactgtctgt	11	8	1	3	rs75590099	by1000genomes	TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:19192367G>A	uc003wzb.2	+	4	848	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	SH2D4A_uc011kym.1_Missense_Mutation_p.R126Q|SH2D4A_uc003wzc.2_Missense_Mutation_p.R171Q	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	171						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		GAGAAAATCCGAGTGAGTCCT	0.498													A	19192367	G	A	19192367	3	1	192	1	0	0	0	0	1	0	0	0	14235	1072	37	1	572	1	SH2D4A	8	19192367	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	8608938	19192367	127171655	59	105160											
CSPP1	79848	broad.mit.edu	37	chr8	68105772	68105773	+	Frame_Shift_Del	DEL	TT	TT	-													cagtgtaaatgttgatgagcTtagagtgagaaatgaggaac							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:68105771_68105772CTT>C	uc003xxi.3	+	29	3524_3525	c.3493_3494CTT>C	c.(3493-3495)cttfs	p.L1165fs	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.3_Frame_Shift_Del_p.L1130fs|CSPP1_uc003xxk.3_Frame_Shift_Del_p.L785fs|CSPP1_uc010lyw.3_Intron	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	1165						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)			TGTTGATGAGCTTAGAGTGAGA	0.366													-	68105773	TT	-	68105772	7	5	192	1	0	1	0	1	0	0	0	0	3962	1609	56	0	3612	0	CSPP1	8	68105772	Frame_Shift_Del	DEL	TT	TCGA-CG-5724-01A-11D-1600-08	48913405	68105772	78258250	60	105161											
ARFGEF1	10565	broad.mit.edu	37	chr8	68165687	68165687	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattaatttagatacttactCtgtttacttgattttgtagg	6	4	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:68165687C>A	uc003xxo.1	-	18	3087	c.2697G>T	c.(2695-2697)CAG>CAT	p.Q899H	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q353H	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	899					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			GATACTTACTCTGTTTACTTG	0.269													A	68165687	C	A	68165687	3	1	192	1	0	0	0	0	1	0	0	0	852	927	32	5	2940	5	ARFGEF1	8	68165687	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	59915	68165687	78198335	61	105162											
PREX2	80243	broad.mit.edu	37	chr8	69104587	69104587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctaatgaggcctctcaaCgctttggatgaactttaccg	9	11	1	2	rs137974526		TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:69104587C>T	uc003xxv.1	+	37	4458	c.4431C>T	c.(4429-4431)AAC>AAT	p.N1477N		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1477					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GGCCTCTCAACGCTTTGGATG	0.433													T	69104587	C	T	69104587	2	4	192	1	0	0	0	0	0	0	0	1	12477	535	19	1		1	PREX2	8	69104587	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	938900	69104587	77259435	62	105163											
ZFHX4	79776	broad.mit.edu	37	chr8	77765163	77765163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatcttctccagaaacGccgcccccgccacctcctcc	4	23	3	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:77765163G>A	uc003yav.2	+	10	6258	c.5871G>A	c.(5869-5871)ACG>ACA	p.T1957T	ZFHX4_uc003yau.1_Silent_p.T2002T|ZFHX4_uc003yaw.1_Silent_p.T1957T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1957	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCCAGAAACGccgcccccgc	0.318										HNSCC(33;0.089)			A	77765163	G	A	77765163	2	1	192	1	0	0	0	0	0	0	0	1	17632	1074	38	1		1	ZFHX4	8	77765163	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	8660576	77765163	68598859	63	105164											
SDC2	6383	broad.mit.edu	37	chr8	97620628	97620628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggaaaatggacccagcCgaagaggatacaaatgtgta	12	6	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:97620628C>T	uc003yhv.1	+	4	990	c.372C>T	c.(370-372)GCC>GCT	p.A124A	SDC2_uc011lgu.1_Silent_p.A95A	NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	124	Extracellular (Potential).					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)	TGGACCCAGCCGAAGAGGATA	0.453													T	97620628	C	T	97620628	2	4	192	1	0	0	0	0	0	0	0	1	13952	639	23	1		1	SDC2	8	97620628	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	19855465	97620628	48743394	64	105165											
DCAF13	25879	broad.mit.edu	37	chr8	104453766	104453766	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcatataaaacgtatAgctcgtcatcgacatctacc	4	12	3	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:104453766A>T	uc003yln.2	+	10	1903	c.1626A>T	c.(1624-1626)ATA>ATT	p.I542I	DCAF13_uc003ylo.2_Silent_p.I253I	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	390					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						TAAAACGTATAGCTCGTCATC	0.373													T	104453766	A	T	104453766	2	4	192	1	0	0	0	0	0	0	0	1	4266	410	15	5		5	DCAF13	8	104453766	Silent	SNP	A	TCGA-CG-5724-01A-11D-1600-08	6833138	104453766	41910256	65	105166											
COL14A1	7373	broad.mit.edu	37	chr8	121219265	121219265	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctttatggttaactggactCatgccccaggaaatgtggaa	11	8	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:121219265C>A	uc003yox.2	+	10	1388	c.1123C>A	c.(1123-1125)CAT>AAT	p.H375N	COL14A1_uc003yoy.2_Missense_Mutation_p.H53N|COL14A1_uc010mde.1_Missense_Mutation_p.H53N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	375	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TAACTGGACTCATGCCCCAGG	0.433													A	121219265	C	A	121219265	3	1	192	1	0	0	0	0	1	0	0	0	3671	826	29	5	1157	5	COL14A1	8	121219265	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	16765499	121219265	25144757	66	105167											
TSTA3	7264	broad.mit.edu	37	chr8	144696357	144696357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtatatgaactgcctccGcggattccctgtaccccaca	8	15	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr8:144696357G>A	uc003yza.2	-	7	676	c.640C>T	c.(640-642)CGG>TGG	p.R214W	TSTA3_uc003yzb.2_Missense_Mutation_p.R214W	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	214					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	AACTGCCTCCGCGGATTCCCT	0.637													A	144696357	G	A	144696357	3	1	192	1	0	0	0	0	1	0	0	0	16671	1086	38	1	345	1	TSTA3	8	144696357	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	23477092	144696357	1667665	67	105168											
UHRF2	115426	broad.mit.edu	37	chr9	6460623	6460623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcaaggatcttagaccacGagctagaaccattttgaaat	8	8	2	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:6460623G>A	uc003zjy.2	+	4	1035	c.695G>A	c.(694-696)CGA>CAA	p.R232Q	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Missense_Mutation_p.R9Q	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	232	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTTAGACCACGAGCTAGAACC	0.373													A	6460623	G	A	6460623	3	1	192	1	0	0	0	0	1	0	0	0	16967	1058	37	1	709	1	UHRF2	9	6460623	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		6460623	134752808	68	105169											
BNC2	54796	broad.mit.edu	37	chr9	16437105	16437105	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggattcgctgctctcattatAttcattctgagttgaaaggc	9	8	3	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:16437105A>T	uc003zml.2	-	6	1227	c.1087T>A	c.(1087-1089)TAT>AAT	p.Y363N	BNC2_uc011lmw.1_Missense_Mutation_p.Y268N|BNC2_uc003zmm.2_Missense_Mutation_p.Y321N|BNC2_uc003zmq.1_Missense_Mutation_p.Y377N|BNC2_uc003zmr.1_Missense_Mutation_p.Y400N|BNC2_uc003zmp.1_Missense_Mutation_p.Y391N|BNC2_uc010mij.1_Missense_Mutation_p.Y285N|BNC2_uc011lmv.1_Missense_Mutation_p.Y189N|BNC2_uc003zmo.1_Missense_Mutation_p.Y285N|BNC2_uc003zmj.2_Missense_Mutation_p.Y128N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.Y128N|BNC2_uc003zmn.1_Missense_Mutation_p.Y128N	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCTCATTATATTCATTCTGA	0.488													T	16437105	A	T	16437105	3	4	192	1	0	0	0	0	1	0	0	0	1475	449	16	5	2220	5	BNC2	9	16437105	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	9976482	16437105	124776326	69	105170											
MAMDC2	256691	broad.mit.edu	37	chr9	72746492	72746492	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatgttgccctggatgatAtttcattctctcctgttcac	7	10	3	1	rs139503678		TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:72746492A>G	uc004ahm.2	+	7	1575	c.958A>G	c.(958-960)ATT>GTT	p.I320V	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	320	MAM 2.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						CCTGGATGATATTTCATTCTC	0.408													G	72746492	A	G	72746492	3	3	192	1	0	0	0	0	1	0	0	0	9203	449	16	3	984	3	MAMDC2	9	72746492	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	56309387	72746492	68466939	70	105171											
GALNT12	79695	broad.mit.edu	37	chr9	101589068	101589068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttggccaatgagctttcGggactgcccaaggtgcgcct	13	13	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:101589068G>A	uc004ayz.2	+	3	576	c.576G>A	c.(574-576)TCG>TCA	p.S192S		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	192	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ATGAGCTTTCGGGACTGCCCA	0.642													A	101589068	G	A	101589068	2	1	192	1	0	0	0	0	0	0	0	1	6210	1103	39	1		1	GALNT12	9	101589068	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	28842576	101589068	39624363	71	105172											
ALDOB	229	broad.mit.edu	37	chr9	104187255	104187255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagggctttggtagagggCaaaggttgatagcattgagg	16	5	0	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:104187255C>A	uc004bbk.2	-	8	951	c.869G>T	c.(868-870)TGC>TTC	p.C290F		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	290					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			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TGGTAGAGGGCAAAGGTTGAT	0.522													A	104187255	C	A	104187255	3	1	192	1	0	0	0	0	1	0	0	0	508	710	25	5	233	5	ALDOB	9	104187255	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	2598187	104187255	37026176	72	105173											
HSDL2	84263	broad.mit.edu	37	chr9	115216406	115216406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagtgatgatgttgttAaagccactcaagcaatctat	7	9	3	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:115216406A>G	uc004bga.1	+	9	1072	c.979A>G	c.(979-981)AAA>GAA	p.K327E	HSDL2_uc011lwv.1_Missense_Mutation_p.K206E|HSDL2_uc004bgb.1_Missense_Mutation_p.K161E|HSDL2_uc004bgc.1_Missense_Mutation_p.K254E|HSDL2_uc011lww.1_Missense_Mutation_p.K122E	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	327	SCP2.					peroxisome	oxidoreductase activity|sterol binding				0						TGATGTTGTTAAAGCCACTCA	0.398													G	115216406	A	G	115216406	3	3	192	1	0	0	0	0	1	0	0	0	7394	363	13	3	1013	3	HSDL2	9	115216406	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	11029151	115216406	25997025	73	105174											
TLR4	7099	broad.mit.edu	37	chr9	120475218	120475218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaaggaaacttggaaaAgtttgacaaatctgctctag	9	5	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:120475218A>C	uc004bjz.2	+	3	1103	c.812A>C	c.(811-813)AAG>ACG	p.K271T	TLR4_uc004bka.2_Missense_Mutation_p.K231T|TLR4_uc004bkb.2_Missense_Mutation_p.K71T	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	271	Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						AACTTGGAAAAGTTTGACAAA	0.358													C	120475218	A	C	120475218	3	2	192	1	0	0	0	0	1	0	0	0	15950	72	3	5	822	5	TLR4	9	120475218	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	5258812	120475218	20738213	74	105175											
OR1L4	254973	broad.mit.edu	37	chr9	125486451	125486452	+	Frame_Shift_Ins	INS	-	-	T													ggctccacacccctatgtacINSttttttctcagcaacttgtc							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:125486451_125486452insT	uc004bmu.1	+	1	183_184	c.183_184insT	c.(181-186)TACTTTfs	p.Y61fs		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	61_62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCCCTATGTACTTTTTTCTCAG	0.446													T	125486452	-	T	125486451	7	5	192	1	0	1	1	0	0	0	0	0	10965	576	20	0	185	0	OR1L4	9	125486451	Frame_Shift_Ins	INS	-	TCGA-CG-5724-01A-11D-1600-08	5011233	125486451	15726980	75	105176	502	2									
OR1L4	254973	broad.mit.edu	37	chr9	125486452	125486453	+	Frame_Shift_Ins	INS	-	-	T													gctccacacccctatgtactINStttttctcagcaacttgtct							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr9:125486451_125486452C>CT	uc004bmu.1	+	0	183_184	c.183_184C>CT	c.(181-186)tactttfs	p.Y61fs		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCCTATGTACTTTTTTCTCAG	0.446													T	125486453	-	T	125486452	7	5	192	1	0	1	1	0	0	0	0	0	10965	1609	56	0	186	0	OR1L4	9	125486452	Frame_Shift_Ins	INS	-	TCGA-CG-5724-01A-11D-1600-08	1	125486452	15726979	76	105177	502	2									
LHPP	64077	broad.mit.edu	37	chr10	126172767	126172767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcgcagaagtcccgggCagagctggtggggcagcttc	17	11	0	2	rs138019469		TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr10:126172767C>A	uc001lhs.1	+	2	205	c.185C>A	c.(184-186)GCA>GAA	p.A62E	LHPP_uc001lht.1_Missense_Mutation_p.A62E|LHPP_uc009yai.1_Missense_Mutation_p.A62E	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	62					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		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;0.163)|Colorectal(40;0.187)		AAGTCCCGGGCAGAGCTGGTG	0.642													A	126172767	C	A	126172767	3	1	192	1	0	0	0	0	1	0	0	0	8769	710	25	5	191	5	LHPP	10	126172767	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08		126172767	9361980	77	105178											
SBF2	81846	broad.mit.edu	37	chr11	9810669	9810669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttacactgaaaaggctgGtgagagcatcaggctgagta	13	7	1	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:9810669G>A	uc001mib.2	-	35	5057	c.4919C>T	c.(4918-4920)ACC>ATC	p.T1640I	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.T284I|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1640	Interaction with MTMR2.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAAAAGGCTGGTGAGAGCATC	0.547													A	9810669	G	A	9810669	3	1	192	1	0	0	0	0	1	0	0	0	13859	1261	44	4	654	4	SBF2	11	9810669	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		9810669	125195847	78	105179											
OR4C16	219428	broad.mit.edu	37	chr11	55339686	55339686	+	Frame_Shift_Del	DEL	T	T	-													gaagaaaatagtgtttgttaTttttttgcgtctctacttgg							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:55339685_55339685AT>A	uc010rih.2	+	0	82	c.82_82AT>A	c.(82-84)attfs	p.I28fs		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AGTGTTTGTTATTTTTTTGCG	0.388													-	55339686	T	-	55339686	7	5	192	1	0	1	0	1	0	0	0	0	11049	1493	52	0	85	0	OR4C16	11	55339686	Frame_Shift_Del	DEL	T	TCGA-CG-5724-01A-11D-1600-08	45529017	55339686	79666830	79	105180											
SPRYD5	84767	broad.mit.edu	37	chr11	55653609	55653610	+	Frame_Shift_Ins	INS	-	-	A													gttttgcaggaggagctcctINSaaaaaaaatgcagtctttat							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:55653609_55653610insA	uc010rip.1	+	3	514_515	c.422_423insA	c.(421-423)CTAfs	p.L141fs	SPRYD5_uc010riq.1_5'UTR	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	141						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GAGGAGCTCCTAAAAAAAATGC	0.401													A	55653610	-	A	55653609	7	5	192	1	0	1	1	0	0	0	0	0	15110	1522	53	0	428	0	SPRYD5	11	55653609	Frame_Shift_Ins	INS	-	TCGA-CG-5724-01A-11D-1600-08	313923	55653609	79352907	80	105181											
C11orf84	144097	broad.mit.edu	37	chr11	63594451	63594451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaggttatccgcgtgcGgatggaggagcccccagcgg	15	13	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:63594451G>A	uc001nxt.2	+	6	1222	c.986G>A	c.(985-987)CGG>CAG	p.R329Q	C11orf84_uc001nxu.1_RNA	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	329											0						ATCCGCGTGCGGATGGAGGAG	0.677													A	63594451	G	A	63594451	3	1	192	1	0	0	0	0	1	0	0	0	1667	1116	39	1	1008	1	C11orf84	11	63594451	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	7940842	63594451	71412065	81	105182											
PELI3	246330	broad.mit.edu	37	chr11	66241318	66241318	+	Frame_Shift_Del	DEL	T	T	-													tccgaggactcagccccgggTgtctggcgggagatctcggt							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:66241318delT	uc001oic.3	+	7	926	c.762delT	c.(760-762)GGTfs	p.G254fs	PELI3_uc001oib.2_Frame_Shift_Del_p.G254fs|PELI3_uc001oid.3_Frame_Shift_Del_p.G230fs|PELI3_uc001oie.3_Frame_Shift_Del_p.G105fs|PELI3_uc010rpd.1_Frame_Shift_Del_p.G95fs	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	254						cytosol	protein binding			ovary(1)	1						CAGCCCCGGGTGTCTGGCGGG	0.647													-	66241318	T	-	66241318	7	5	192	1	0	1	0	1	0	0	0	0	11723	1683	59	0	784	0	PELI3	11	66241318	Frame_Shift_Del	DEL	T	TCGA-CG-5724-01A-11D-1600-08	2646867	66241318	68765198	82	105183											
FOLH1B	219595	broad.mit.edu	37	chr11	89431668	89431668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgatattgaaagcaaAgtggacccttccaaggcctg	10	9	0	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:89431668A>C	uc001pda.2	+	14	1756	c.1230A>C	c.(1228-1230)AAA>AAC	p.K410N		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	410					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGAAAGCAAAGTGGACCCTT	0.473													C	89431668	A	C	89431668	3	2	192	1	0	0	0	0	1	0	0	0	5980	69	3	5	1276	5	FOLH1B	11	89431668	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	23190350	89431668	45574848	83	105184											
FAT3	120114	broad.mit.edu	37	chr11	92086454	92086454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgaattttcccctcctggTgtcgtggttgctatagtaaa	10	8	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:92086454T>C	uc001pdj.3	+	1	1193	c.1176T>C	c.(1174-1176)GGT>GGC	p.G392G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	392	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCTCCTGGTGTCGTGGTTG	0.408										TCGA Ovarian(4;0.039)			C	92086454	T	C	92086454	2	2	192	1	0	0	0	0	0	0	0	1	5691	1683	59	3		3	FAT3	11	92086454	Silent	SNP	T	TCGA-CG-5724-01A-11D-1600-08	2654786	92086454	42920062	84	105185											
KDM4D	55693	broad.mit.edu	37	chr11	94731169	94731169	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttggggagcccaaaacTtggtatgtggtgcccccaga	12	12	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:94731169T>C	uc001pfe.2	+	3	1465	c.633T>C	c.(631-633)ACT>ACC	p.T211T		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	211	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGCCCAAAACTTGGTATGTGG	0.577													C	94731169	T	C	94731169	2	2	192	1	0	0	0	0	0	0	0	1	8131	1596	56	3		3	KDM4D	11	94731169	Silent	SNP	T	TCGA-CG-5724-01A-11D-1600-08	2644715	94731169	40275347	85	105186											
OR6T1	219874	broad.mit.edu	37	chr11	123814316	123814316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacaagcatcttgggaaccAcaacagttaccagcaacagc	8	13	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr11:123814316A>G	uc010sab.1	-	1	230	c.230T>C	c.(229-231)GTG>GCG	p.V77A		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	77	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		CTTGGGAACCACAACAGTTAC	0.488													G	123814316	A	G	123814316	3	3	192	1	0	0	0	0	1	0	0	0	11210	159	6	3	744	3	OR6T1	11	123814316	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	29083147	123814316	11192200	86	105187											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858814	42858814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacactgatctgctgacCggctgctcttgcccattcgg	10	14	3	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:42858814C>T	uc010skv.1	-	7	1309	c.1022G>A	c.(1021-1023)CGG>CAG	p.R341Q	PRICKLE1_uc001rnl.2_Missense_Mutation_p.R341Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.R341Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R341Q	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	341					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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ATCTGCTGACCGGCTGCTCTT	0.512													T	42858814	C	T	42858814	3	4	192	1	0	0	0	0	1	0	0	0	12486	652	23	1	1481	1	PRICKLE1	12	42858814	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08		42858814	90993081	87	105188											
PUS7L	83448	broad.mit.edu	37	chr12	44148392	44148392	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgcatccaaatatttAaaaaagtcaaatgcttcctc	3	9	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:44148392A>T	uc001rnq.3	-	2	1146	c.657T>A	c.(655-657)TTT>TTA	p.F219L	PUS7L_uc001rnr.3_Missense_Mutation_p.F219L|PUS7L_uc001rns.3_Missense_Mutation_p.F219L|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	219					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CCAAATATTTAAAAAAGTCAA	0.299													T	44148392	A	T	44148392	3	4	192	1	0	0	0	0	1	0	0	0	12834	359	13	5	1480	5	PUS7L	12	44148392	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	1289578	44148392	89703503	88	105189											
LARP4	113251	broad.mit.edu	37	chr12	50821557	50821557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttagcaggtagcatctAaaggaactggtttaaatcct	8	6	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:50821557A>G	uc001rwp.1	+	2	175	c.31A>G	c.(31-33)AAA>GAA	p.K11E	LARP4_uc001rwo.1_Missense_Mutation_p.K11E|LARP4_uc001rwq.1_Missense_Mutation_p.K11E|LARP4_uc001rwr.1_Missense_Mutation_p.K11E|LARP4_uc001rws.1_Missense_Mutation_p.K10E|LARP4_uc001rwm.2_Missense_Mutation_p.K11E|LARP4_uc001rwn.2_5'UTR	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	11							nucleotide binding|RNA binding			ovary(1)	1						GGTAGCATCTAAAGGAACTGG	0.348													G	50821557	A	G	50821557	3	3	192	1	0	0	0	0	1	0	0	0	8630	363	13	3	37	3	LARP4	12	50821557	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	6673165	50821557	83030338	89	105190											
KRT74	121391	broad.mit.edu	37	chr12	52964594	52964594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacagaggtctcactggcGtgagtctggatctgagcgat	14	8	3	4			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:52964594G>A	uc001sap.1	-	5	915	c.867C>T	c.(865-867)CAC>CAT	p.H289H		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	289	Rod.|Linker 12.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCTCACTGGCGTGAGTCTGGA	0.567													A	52964594	G	A	52964594	2	1	192	1	0	0	0	0	0	0	0	1	8487	1136	40	1		1	KRT74	12	52964594	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	2143037	52964594	80887301	90	105191											
MGAT4C	25834	broad.mit.edu	37	chr12	86373791	86373791	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagggatgcaatgactttcTtgatggcagttaagaaattt	10	5	1	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:86373791T>G	uc001tai.3	-	8	1963	c.713A>C	c.(712-714)AAG>ACG	p.K238T	MGAT4C_uc001tal.3_Missense_Mutation_p.K238T|MGAT4C_uc001taj.3_Missense_Mutation_p.K238T|MGAT4C_uc001tak.3_Missense_Mutation_p.K238T|MGAT4C_uc010sum.1_Missense_Mutation_p.K262T|MGAT4C_uc001tah.3_Missense_Mutation_p.K238T	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	238	Lumenal (Potential).				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			ovary(3)	3						AATGACTTTCTTGATGGCAGT	0.358													G	86373791	T	G	86373791	3	3	192	1	0	0	0	0	1	0	0	0	9547	1609	56	5	727	5	MGAT4C	12	86373791	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	33409197	86373791	47478104	91	105192											
MGAT4C	25834	broad.mit.edu	37	chr12	86383296	86383296	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcaagtatttcaaaaAtatgtttcatttgatgaaat	4	3	3	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:86383296A>C	uc001tai.3	-	6	1279	c.29T>G	c.(28-30)ATT>AGT	p.I10S	MGAT4C_uc001tal.3_Missense_Mutation_p.I10S|MGAT4C_uc001taj.3_Missense_Mutation_p.I10S|MGAT4C_uc001tak.3_Missense_Mutation_p.I10S|MGAT4C_uc010sum.1_Missense_Mutation_p.I34S|MGAT4C_uc001tah.3_Missense_Mutation_p.I10S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	10	Cytoplasmic (Potential).				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			ovary(3)	3						TATTTCAAAAATATGTTTCAT	0.308													C	86383296	A	C	86383296	3	2	192	1	0	0	0	0	1	0	0	0	9547	101	4	5	1419	5	MGAT4C	12	86383296	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	9505	86383296	47468599	92	105193											
C12orf51	283450	broad.mit.edu	37	chr12	112685929	112685929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtttcccctgcatgGcatcatcaacttcactttgc	5	15	4	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:112685929G>A	uc009zwc.2	-	20	2942	c.2924C>T	c.(2923-2925)GCC>GTC	p.A975V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CCCCTGCATGGCATCATCAAC	0.328													A	112685929	G	A	112685929	3	1	192	1	0	0	0	0	1	0	0	0	1696	1203	42	2	9266	2	C12orf51	12	112685929	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	26302633	112685929	21165966	93	105194											
MORN3	283385	broad.mit.edu	37	chr12	122091042	122091042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaagtcgatcatcgtcCcgcatttggccatattgtcc	9	13	1	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr12:122091042C>A	uc001uax.2	-	4	758	c.587G>T	c.(586-588)GGG>GTG	p.G196V	MORN3_uc001uay.2_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	196	MORN 7.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GATCATCGTCCCGCATTTGGC	0.617													A	122091042	C	A	122091042	3	1	192	1	0	0	0	0	1	0	0	0	9709	623	22	5	143	5	MORN3	12	122091042	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	9405113	122091042	11760853	94	105195											
EDNRB	1910	broad.mit.edu	37	chr13	78492471	78492471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggtgcgtggcggagAtcctgccgtcctgtctcctt	15	11	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr13:78492471A>G	uc001vko.2	-	1	496	c.238T>C	c.(238-240)TCT>CCT	p.S80P	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.S80P|EDNRB_uc010aez.1_Missense_Mutation_p.S80P|EDNRB_uc001vkp.1_Missense_Mutation_p.S163P|EDNRB_uc010afa.1_Missense_Mutation_p.S80P	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	80	Extracellular (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGTGGCGGAGATCCTGCCGTC	0.592													G	78492471	A	G	78492471	3	3	192	1	0	0	0	0	1	0	0	0	4920	333	12	3	1239	3	EDNRB	13	78492471	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08		78492471	36677407	95	105196											
OR4M1	441670	broad.mit.edu	37	chr14	20248768	20248768	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagataatttcctttggtgGatgcattgcacagctcttct	9	8	2	1	rs62619918		TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr14:20248768G>C	uc010tku.1	+	1	287	c.287G>C	c.(286-288)GGA>GCA	p.G96A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTTGGTGGATGCATTGCA	0.468													C	20248768	G	C	20248768	3	2	192	1	0	0	0	0	1	0	0	0	11075	1174	41	5	289	5	OR4M1	14	20248768	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		20248768	87100772	96	105197											
DLGAP5	9787	broad.mit.edu	37	chr14	55655676	55655676	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttacttggcttaacattggtCttttctggaacaagcccttg	8	9	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr14:55655676C>T	uc001xbs.2	-	2	439	c.222G>A	c.(220-222)AAG>AAA	p.K74K	DLGAP5_uc001xbt.2_Silent_p.K74K	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	74					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			ovary(1)|skin(1)	2						TAACATTGGTCTTTTCTGGAA	0.348													T	55655676	C	T	55655676	2	4	192	1	0	0	0	0	0	0	0	1	4563	912	32	4		4	DLGAP5	14	55655676	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	35406908	55655676	51693864	97	105198											
FOXN3	1112	broad.mit.edu	37	chr14	89878584	89878584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgacactcctgaggacCgactccccaaagctcttcag	10	15	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr14:89878584C>T	uc001xxo.3	-	2	374	c.237G>A	c.(235-237)TCG>TCA	p.S79S	FOXN3_uc001xxn.3_Silent_p.S79S|FOXN3_uc010atk.2_Silent_p.S79S|FOXN3_uc001xxp.2_Silent_p.S79S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	79					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	p.S79L(1)		skin(2)|ovary(1)	3						TCCTGAGGACCGACTCCCCAA	0.587													T	89878584	C	T	89878584	2	4	192	1	0	0	0	0	0	0	0	1	6021	639	23	1		1	FOXN3	14	89878584	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	34222908	89878584	17470956	98	105199											
LGMN	5641	broad.mit.edu	37	chr14	93176169	93176169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggggacgggagaactggCtttgcgtttcataccctgaa	14	8	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr14:93176169C>T	uc001yav.2	-	12	1194	c.868G>A	c.(868-870)GCC>ACC	p.A290T	LGMN_uc001yat.2_Missense_Mutation_p.A290T|LGMN_uc001yau.2_Missense_Mutation_p.A290T|LGMN_uc001yaw.2_Missense_Mutation_p.A290T|LGMN_uc010aul.2_Missense_Mutation_p.A171T|LGMN_uc001yax.2_Missense_Mutation_p.A290T|LGMN_uc001yay.2_Missense_Mutation_p.A290T	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	290					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGAGAACTGGCTTTGCGTTTC	0.433													T	93176169	C	T	93176169	3	4	192	1	0	0	0	0	1	0	0	0	8755	797	28	2	449	2	LGMN	14	93176169	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	3297585	93176169	14173371	99	105200											
KIAA1409	57578	broad.mit.edu	37	chr14	94088466	94088466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactctcaacctccgacagCgactctcttgtatttgagcc	6	14	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr14:94088466C>T	uc001ybv.1	+	28	4505	c.4422C>T	c.(4420-4422)AGC>AGT	p.S1474S	KIAA1409_uc001ybs.1_Silent_p.S1452S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1629						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CCTCCGACAGCGACTCTCTTG	0.493													T	94088466	C	T	94088466	2	4	192	1	0	0	0	0	0	0	0	1	8230	767	27	1		1	KIAA1409	14	94088466	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	912297	94088466	13261074	100	105201											
CSPG4	1464	broad.mit.edu	37	chr15	75974714	75974714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctagctgggggccccGcaccacacggtagagcagga	15	15	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr15:75974714G>A	uc002baw.2	-	8	4963	c.4870C>T	c.(4870-4872)CGG>TGG	p.R1624W		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1624	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.				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			ovary(2)|pancreas(1)	3						TGGGGGCCCCGCACCACACGG	0.662													A	75974714	G	A	75974714	3	1	192	1	0	0	0	0	1	0	0	0	3960	1086	38	1	2110	1	CSPG4	15	75974714	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		75974714	26556678	101	105202											
ZNF710	374655	broad.mit.edu	37	chr15	90617399	90617399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctgggccacatgcacCtgcacgccggcagcaagccc	11	18	0	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr15:90617399C>T	uc002bov.1	+	4	1825	c.1702C>T	c.(1702-1704)CTG>TTG	p.L568L		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	568	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			CCACATGCACCTGCACGCCGG	0.577													T	90617399	C	T	90617399	2	4	192	1	0	0	0	0	0	0	0	1	18112	680	24	4		4	ZNF710	15	90617399	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	14642685	90617399	11913993	102	105203											
ALDH1A3	220	broad.mit.edu	37	chr15	101445802	101445802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggccaagctggaatgCgggggctcagccatggaaga	18	8	1	1	rs113661159		TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr15:101445802C>T	uc002bwn.3	+	10	1247	c.1143C>T	c.(1141-1143)TGC>TGT	p.C381C	ALDH1A3_uc010bpb.2_Silent_p.C274C|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	381					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	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)	AGCTGGAATGCGGGGGCTCAG	0.498													T	101445802	C	T	101445802	2	4	192	1	0	0	0	0	0	0	0	1	492	776	27	1		1	ALDH1A3	15	101445802	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	10828403	101445802	1085590	103	105204											
ZNF768	79724	broad.mit.edu	37	chr16	30536081	30536081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaggtcttgccgcagtcGgggcagctgtaggtgcggcc	17	10	1	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr16:30536081G>A	uc002dyk.3	-	2	1556	c.1380C>T	c.(1378-1380)CCC>CCT	p.P460P	ZNF768_uc010vex.1_Silent_p.P429P|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Silent_p.P429P	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	460	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						TGCCGCAGTCGGGGCAGCTGT	0.682													A	30536081	G	A	30536081	2	1	192	1	0	0	0	0	0	0	0	1	18138	1103	39	1		1	ZNF768	16	30536081	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08		30536081	59818672	104	105205											
PRSS53	339105	broad.mit.edu	37	chr16	31098992	31098993	+	Frame_Shift_Ins	INS	-	-	G													tgttgccctcctgaggcttgINSggggggccggggccacgctg							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr16:31098991_31098992T>TG	uc002eaq.3	-	2	108_109	c.108_109A>CA	c.(106-111)cccaagfs	p.P36fs	PRSS53_uc002ear.3_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	36	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						TCCTGAGGCTTGGGGGGGCCGG	0.649													G	31098993	-	G	31098992	7	5	192	1	0	1	1	0	0	0	0	0	12632	1335	47	0	1589	0	PRSS53	16	31098992	Frame_Shift_Ins	INS	-	TCGA-CG-5724-01A-11D-1600-08	562911	31098992	59255761	105	105206											
CDH11	1009	broad.mit.edu	37	chr16	65016134	65016134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggccattgctgataaacTtcgggtcgatgtgcacgttg	13	8	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr16:65016134T>G	uc002eoi.2	-	8	1504	c.1070A>C	c.(1069-1071)AAG>ACG	p.K357T	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K357T|CDH11_uc010vin.1_Missense_Mutation_p.K231T|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	357	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTGATAAACTTCGGGTCGAT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65016134	T	G	65016134	3	3	192	1	0	0	0	0	1	0	0	0	3097	1609	56	5	1344	5	CDH11	16	65016134	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	33917142	65016134	25338619	106	105207											
PSKH1	5681	broad.mit.edu	37	chr16	67961298	67961298	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacagtggaccctggagcccGtatgactgcactgcaggccc	13	14	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr16:67961298G>C	uc002euv.2	+	3	1198	c.1028G>C	c.(1027-1029)CGT>CCT	p.R343P		NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	343	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCTGGAGCCCGTATGACTGCA	0.582													C	67961298	G	C	67961298	3	2	192	1	0	0	0	0	1	0	0	0	12664	1145	40	5	1034	5	PSKH1	16	67961298	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	2945164	67961298	22393455	107	105208											
SLC7A6	9057	broad.mit.edu	37	chr16	68325560	68325560	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatccatctttgcttcaTcaaggtactgtgtctctgtg	8	10	4	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr16:68325560T>G	uc002evt.1	+	8	1327	c.1018T>G	c.(1018-1020)TCA>GCA	p.S340A	SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.S340A|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	340	Cytoplasmic (Potential).				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			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTTTGCTTCATCAAGGTACTG	0.478													G	68325560	T	G	68325560	3	3	192	1	0	0	0	0	1	0	0	0	14701	1435	50	5	1036	5	SLC7A6	16	68325560	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	364262	68325560	22029193	108	105209											
KIAA0664	23277	broad.mit.edu	37	chr17	2604521	2604521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaatggcttaggaagcggGggctggcgggcttggggttg	23	5	0	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:2604521G>T	uc002fuy.1	-	7	910	c.824C>A	c.(823-825)CCC>CAC	p.P275H	KIAA0664_uc002fux.1_Missense_Mutation_p.P207H	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	275							binding			breast(2)	2						TAGGAAGCGGGGGCTGGCGGG	0.607													T	2604521	G	T	2604521	3	4	192	1	0	0	0	0	1	0	0	0	8189	1232	43	5	3185	5	KIAA0664	17	2604521	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		2604521	78590689	109	105210											
TMEM95	339168	broad.mit.edu	37	chr17	7258584	7258584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaggcttgtgtcttctgtCgcctcccagcccacgacttg	9	17	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:7258584C>T	uc002ggh.1	+	1	88	c.61C>T	c.(61-63)CGC>TGC	p.R21C	TMEM95_uc002ggf.1_Missense_Mutation_p.R21C|TMEM95_uc002ggg.1_Missense_Mutation_p.R21C	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN	transmembrane protein 95	21	Extracellular (Potential).					integral to membrane					0		Prostate(122;0.173)				TGTCTTCTGTCGCCTCCCAGC	0.672													T	7258584	C	T	7258584	3	4	192	1	0	0	0	0	1	0	0	0	16220	884	31	1	63	1	TMEM95	17	7258584	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	4654063	7258584	73936626	110	105211											
CDK12	51755	broad.mit.edu	37	chr17	37650864	37650864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgaaatcaaaatccttcGtcagttaatccaccgaagtg	7	10	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:37650864G>A	uc010cvv.2	+	5	2922	c.2336G>A	c.(2335-2337)CGT>CAT	p.R779H	CDK12_uc010wef.1_Missense_Mutation_p.R778H|CDK12_uc002hrw.3_Missense_Mutation_p.R779H	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						AAAATCCTTCGTCAGTTAatc	0.279										TCGA Ovarian(9;0.13)			A	37650864	G	A	37650864	3	1	192	1	0	0	0	0	1	0	0	0	3128	1145	40	1	2354	1	CDK12	17	37650864	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	30392280	37650864	43544346	111	105212											
EFTUD2	9343	broad.mit.edu	37	chr17	42937799	42937799	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtctcttcagaaactctaCctcctcattgcctcggggtt	8	13	4	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:42937799C>A	uc002ihn.2	-	17	1980	c.1719_splice	c.e17+1	p.E573_splice	EFTUD2_uc010wje.1_Splice_Site_p.E538_splice|EFTUD2_uc010wjf.1_Splice_Site_p.E563_splice	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				AGAAACTCTACCTCCTCATTG	0.502													A	42937799	C	A	42937799	5	1	192	1	0	0	0	0	0	0	1	0	4961	521	18	5	1246	5	EFTUD2	17	42937799	Splice_Site	SNP	C	TCGA-CG-5724-01A-11D-1600-08	5286935	42937799	38257411	112	105213											
ARHGAP27	201176	broad.mit.edu	37	chr17	43481878	43481878	+	Frame_Shift_Del	DEL	G	G	-													tggatttatggatgcttcgaGgggcagggacagggacctgg							TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:43481877_43481877AG>A	uc002iix.3	-	4	773	c.324_324CT>T	c.(322-324)cctfs	p.P108fs	ARHGAP27_uc010dak.3_Frame_Shift_Del_p.P81fs|ARHGAP27_uc010wjl.1_Frame_Shift_Del_p.P249fs	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	449					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)					GGATGCTTCGAGGGGCAGGGA	0.602													-	43481878	G	-	43481878	7	5	192	1	0	1	0	1	0	0	0	0	876	1000	35	0	1375	0	ARHGAP27	17	43481878	Frame_Shift_Del	DEL	G	TCGA-CG-5724-01A-11D-1600-08	544079	43481878	37713332	113	105214											
LRRC59	55379	broad.mit.edu	37	chr17	48462540	48462540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcttggctgctttgagGgcatcatactcctttctccg	9	14	2	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:48462540G>A	uc002iqt.2	-	6	769	c.615C>T	c.(613-615)GCC>GCT	p.A205A		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	205	Potential.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTGCTTTGAGGGCATCATACT	0.557													A	48462540	G	A	48462540	2	1	192	1	0	0	0	0	0	0	0	1	9015	1219	43	4		4	LRRC59	17	48462540	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	4980662	48462540	32732670	114	105215											
EXOC7	23265	broad.mit.edu	37	chr17	74081411	74081411	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgcgctggtaggtctGgatctgctgctcaatgtgct	12	11	4	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:74081411G>A	uc002jqs.2	-	16	1944	c.1849C>T	c.(1849-1851)CAG>TAG	p.Q617*	EXOC7_uc002jqp.1_5'Flank|EXOC7_uc010dgv.1_Nonsense_Mutation_p.Q491*|EXOC7_uc002jqq.2_Nonsense_Mutation_p.Q566*|EXOC7_uc010wsw.1_Nonsense_Mutation_p.Q589*|EXOC7_uc010wsx.1_Nonsense_Mutation_p.Q558*|EXOC7_uc002jqr.2_Nonsense_Mutation_p.Q535*|EXOC7_uc010wsv.1_Nonsense_Mutation_p.Q538*	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	617					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTAGGTCTGGATCTGCTGC	0.627													A	74081411	G	A	74081411	4	1	192	1	0	0	0	0	0	1	0	0	5310	1357	47	4	378	4	EXOC7	17	74081411	Nonsense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	25618871	74081411	7113799	115	105216											
SEC14L1	6397	broad.mit.edu	37	chr17	75196749	75196749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggaggctggcatcatcacGacaaaggtaccggatggagt	15	9	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr17:75196749G>A	uc002jto.2	+	9	1270	c.1003G>A	c.(1003-1005)GAC>AAC	p.D335N	SEC14L1_uc010dhc.2_Missense_Mutation_p.D335N|SEC14L1_uc010wth.1_Missense_Mutation_p.D335N|SEC14L1_uc002jtm.2_Missense_Mutation_p.D335N|SEC14L1_uc010wti.1_Missense_Mutation_p.D301N	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	335	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						GCATCATCACGACAAAGGTAC	0.507													A	75196749	G	A	75196749	3	1	192	1	0	0	0	0	1	0	0	0	13981	1058	37	1	1029	1	SEC14L1	17	75196749	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	1115338	75196749	5998461	116	105217											
PTPRM	5797	broad.mit.edu	37	chr18	8113545	8113545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaagacgacagaaatcTtaaagtgctacccagtgcca	7	10	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr18:8113545T>G	uc002knn.3	+	12	2421	c.1918T>G	c.(1918-1920)TTA>GTA	p.L640V	PTPRM_uc010dkv.2_Missense_Mutation_p.L640V|PTPRM_uc010wzl.1_Missense_Mutation_p.L427V	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	640	Fibronectin type-III 4.|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GACAGAAATCTTAAAGTGCTA	0.403													G	8113545	T	G	8113545	3	3	192	1	0	0	0	0	1	0	0	0	12806	1606	56	5	1964	5	PTPRM	18	8113545	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08		8113545	69963703	117	105218											
KLHL14	57565	broad.mit.edu	37	chr18	30260165	30260165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctccaattgcatacaagcGatcattcattacagccaaag	5	12	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr18:30260165G>A	uc002kxm.1	-	7	1943	c.1555C>T	c.(1555-1557)CGC>TGC	p.R519C	KLHL14_uc010dmd.1_Missense_Mutation_p.R68C	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	519						cytosol|endoplasmic reticulum membrane				ovary(1)	1						GCATACAAGCGATCATTCATT	0.378													A	30260165	G	A	30260165	3	1	192	1	0	0	0	0	1	0	0	0	8370	1058	37	1	343	1	KLHL14	18	30260165	Missense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08	22146620	30260165	47817083	118	105219											
C18orf34	374864	broad.mit.edu	37	chr18	30847015	30847015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatatcccatgtttttTtctttaagaaaagaataaaa	4	6	2	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr18:30847015T>G	uc002kxn.2	-	13	1416	c.1274A>C	c.(1273-1275)AAA>ACA	p.K425T	C18orf34_uc010dme.1_5'UTR|C18orf34_uc010xbr.1_Missense_Mutation_p.K425T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K425T|C18orf34_uc002kxp.2_Missense_Mutation_p.K425T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	425										ovary(1)	1						CCATGTTTTTTTCTTTAAGAA	0.264													G	30847015	T	G	30847015	3	3	192	1	0	0	0	0	1	0	0	0	1902	1855	64	5	1369	5	C18orf34	18	30847015	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	586850	30847015	47230233	119	105220											
NOL4	8715	broad.mit.edu	37	chr18	31538236	31538236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgctcggcttcaacgccGtctgtctcattaactttctc	7	15	4	0	rs141277558		TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr18:31538236G>A	uc010dmi.2	-	7	1432	c.1203C>T	c.(1201-1203)GAC>GAT	p.D401D	NOL4_uc010xbs.1_Silent_p.D116D|NOL4_uc002kxr.3_Silent_p.D237D|NOL4_uc010xbt.1_Silent_p.D327D|NOL4_uc010dmh.2_Silent_p.D327D|NOL4_uc010xbu.1_Silent_p.D401D|NOL4_uc002kxt.3_Silent_p.D401D|NOL4_uc010xbv.1_Silent_p.D150D|NOL4_uc010xbw.1_Silent_p.D287D	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	401						nucleolus	RNA binding			ovary(3)	3						CTTCAACGCCGTCTGTCTCAT	0.483													A	31538236	G	A	31538236	2	1	192	1	0	0	0	0	0	0	0	1	10524	1136	40	1		1	NOL4	18	31538236	Silent	SNP	G	TCGA-CG-5724-01A-11D-1600-08	691221	31538236	46539012	120	105221											
C18orf25	147339	broad.mit.edu	37	chr18	43843012	43843012	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgactccccagcagacTtgggcttcaccagcagaagt	11	13	1	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr18:43843012T>C	uc002lbw.2	+	6	1525	c.1146T>C	c.(1144-1146)ACT>ACC	p.T382T	C18orf25_uc002lbx.2_Silent_p.T321T	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a	381										central_nervous_system(2)	2						CCCAGCAGACTTGGGCTTCAC	0.488													C	43843012	T	C	43843012	2	2	192	1	0	0	0	0	0	0	0	1	1899	1596	56	3		3	C18orf25	18	43843012	Silent	SNP	T	TCGA-CG-5724-01A-11D-1600-08	12304776	43843012	34234236	121	105222											
DCC	1630	broad.mit.edu	37	chr18	50731602	50731602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcaagttccagggccAgtagaaaacctgcaagctgt	11	10	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr18:50731602A>G	uc002lfe.1	+	10	2177	c.1590A>G	c.(1588-1590)CCA>CCG	p.P530P	DCC_uc010xdr.1_Silent_p.P378P|DCC_uc010dpf.1_Silent_p.P185P	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	530	Extracellular (Potential).|Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCAGGGCCAGTAGAAAACC	0.378													G	50731602	A	G	50731602	2	3	192	1	0	0	0	0	0	0	0	1	4282	175	7	3		3	DCC	18	50731602	Silent	SNP	A	TCGA-CG-5724-01A-11D-1600-08	6888590	50731602	27345646	122	105223											
MAP2K7	5609	broad.mit.edu	37	chr19	7977228	7977228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgctggaggtggacgtggCgtcctggttcaaggatgtca	17	8	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr19:7977228C>T	uc002mit.2	+	11	1237	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	MAP2K7_uc002miv.2_Missense_Mutation_p.A398V|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.A398V|MAP2K7_uc010dvv.2_Missense_Mutation_p.A266V	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	391					activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GTGGACGTGGCGTCCTGGTTC	0.642													T	7977228	C	T	7977228	3	4	192	1	0	0	0	0	1	0	0	0	9242	768	27	1	1214	1	MAP2K7	19	7977228	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08		7977228	51151755	123	105224											
MUC16	94025	broad.mit.edu	37	chr19	9010689	9010689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagtccctgaggtcccaAggtccactgtggaggtccca	13	12	0	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr19:9010689A>C	uc002mkp.2	-	38	39176	c.38972T>G	c.(38971-38973)CTT>CGT	p.L12991R	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12993	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAGGTCCCAAGGTCCACTGT	0.517													C	9010689	A	C	9010689	3	2	192	1	0	0	0	0	1	0	0	0	9973	72	3	5	4739	5	MUC16	19	9010689	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	1033461	9010689	50118294	124	105225											
ZNF44	51710	broad.mit.edu	37	chr19	12383467	12383467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctttcctgcattgctTacattcatatggcttctctg	7	10	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr19:12383467T>C	uc010xmj.1	-	5	1952	c.1747A>G	c.(1747-1749)AAG>GAG	p.K583E	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.K535E	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	583	C2H2-type 15.				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)		CTGCATTGCTTACATTCATAT	0.403													C	12383467	T	C	12383467	3	2	192	1	0	0	0	0	1	0	0	0	17909	1763	61	3	248	3	ZNF44	19	12383467	Missense_Mutation	SNP	T	TCGA-CG-5724-01A-11D-1600-08	3372778	12383467	46745516	125	105226											
NCAN	1463	broad.mit.edu	37	chr19	19349171	19349171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactgccgccgccgctcCggccacctgaccagcgtcca	11	19	0	1	rs146079504		TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr19:19349171C>T	uc002nlz.2	+	11	3459	c.3360C>T	c.(3358-3360)TCC>TCT	p.S1120S	NCAN_uc010ecc.1_Silent_p.S684S|NCAN_uc002nma.2_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1120	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GCCGCCGCTCCGGCCACCTGA	0.652													T	19349171	C	T	19349171	2	4	192	1	0	0	0	0	0	0	0	1	10204	639	23	1		1	NCAN	19	19349171	Silent	SNP	C	TCGA-CG-5724-01A-11D-1600-08	6965704	19349171	39779812	126	105227											
ZNF790	388536	broad.mit.edu	37	chr19	37314605	37314605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagttctccaacatcaCatctctatataaatccctct	3	13	4	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr19:37314605C>T	uc002oew.2	-	3	216	c.97G>A	c.(97-99)GTG>ATG	p.V33M	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCAACATCACATCTCTATAT	0.408													T	37314605	C	T	37314605	3	4	192	1	0	0	0	0	1	0	0	0	18159	478	17	4	1825	4	ZNF790	19	37314605	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	17965434	37314605	21814378	127	105228											
RYR1	6261	broad.mit.edu	37	chr19	38983186	38983186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaccaccctgggcagcCgcctcatgagcctgttggag	13	13	1	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr19:38983186C>T	uc002oit.2	+	38	6314	c.6184C>T	c.(6184-6186)CGC>TGC	p.R2062C	RYR1_uc002oiu.2_Missense_Mutation_p.R2062C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2062	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGGGCAGCCGCCTCATGAG	0.522													T	38983186	C	T	38983186	3	4	192	1	0	0	0	0	1	0	0	0	13768	652	23	1	6334	1	RYR1	19	38983186	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	1668581	38983186	20145797	128	105229											
ZNF836	162962	broad.mit.edu	37	chr19	52658985	52658985	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgacgtgctaggcatgAgtagtaactgaaaaccttgc	11	9	0	3			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr19:52658985A>T	uc010ydi.1	-	5	2325	c.1951T>A	c.(1951-1953)TCA>ACA	p.S651T	ZNF836_uc010ydj.1_Missense_Mutation_p.S651T	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	651	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTAGGCATGAGTAGTAACTG	0.413													T	52658985	A	T	52658985	3	4	192	1	0	0	0	0	1	0	0	0	18184	304	11	5	861	5	ZNF836	19	52658985	Missense_Mutation	SNP	A	TCGA-CG-5724-01A-11D-1600-08	13675799	52658985	6469998	129	105230											
GART	2618	broad.mit.edu	37	chr21	34876432	34876432	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttctgaattaaaaggcttCattcctctttaacccaacag	4	10	3	1			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr21:34876432C>A	uc002yrx.2	-	22	3167	c.3032G>T	c.(3031-3033)TGA>TTA	p.*1011L	GART_uc002yrz.2_Nonstop_Mutation_p.*1011L|GART_uc010gmd.2_Nonstop_Mutation_p.*673L|GART_uc002yry.2_Nonstop_Mutation_p.*1011L	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	1011					'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			ovary(1)	1					Pemetrexed(DB00642)	TAAAAGGCTTCATTCCTCTTT	0.403													A	34876432	C	A	34876432	4	1	192	1	0	0	0	0	0	0	0	0	6243	837	29	5	4	5	GART	21	34876432	Nonstop_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08		34876432	13253463	130	105231											
DSCAM	1826	broad.mit.edu	37	chr21	41450635	41450635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgtagttcagcgtagCgaagttggcctgcttctccg	12	12	2	0			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chr21:41450635C>T	uc002yyq.1	-	26	5142	c.4690G>A	c.(4690-4692)GCT>ACT	p.A1564T	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1564	Extracellular (Potential).|Fibronectin type-III 6.				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCAGCGTAGCGAAGTTGGCC	0.592													T	41450635	C	T	41450635	3	4	192	1	0	0	0	0	1	0	0	0	4768	768	27	1	1380	1	DSCAM	21	41450635	Missense_Mutation	SNP	C	TCGA-CG-5724-01A-11D-1600-08	6574203	41450635	6679260	131	105232											
BCOR	54880	broad.mit.edu	37	chrX	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagcatctggttcttctcGgagaaggtctacgtagacaa	10	8	4	2			TCGA-CG-5724-01A-11D-1600-08	TCGA-CG-5724-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dac8ca0-f776-4ea2-85c4-aefba4966be7	8c55d79f-356a-4589-8403-cdfed8311550	g.chrX:39932171G>A	uc004den.3	-	4	2720	c.2428C>T	c.(2428-2430)CGA>TGA	p.R810*	BCOR_uc004dep.3_Nonsense_Mutation_p.R810*|BCOR_uc004deo.3_Nonsense_Mutation_p.R810*|BCOR_uc004dem.3_Nonsense_Mutation_p.R810*|BCOR_uc004deq.3_Nonsense_Mutation_p.R810*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	810					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						GGTTCTTCTCGGAGAAGGTCT	0.522													A	39932171	G	A	39932171	4	1	192	1	0	0	0	0	0	1	0	0	1386	1124	39	1	2887	1	BCOR	23	39932171	Nonsense_Mutation	SNP	G	TCGA-CG-5724-01A-11D-1600-08		39932171	115338389	132	105233											
KLHL17	339451	broad.mit.edu	37	chr1	900458	900458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggaccaacaagtgggtgGccgcatcctgcatgttcacc	12	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:900458G>A	uc001aca.1	+	12	1923	c.1816G>A	c.(1816-1818)GCC>ACC	p.A606T	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	606	Kelch 6.|Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	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)		CAAGTGGGTGGCCGCATCCTG	0.637													A	900458	G	A	900458	3	1	193	1	0	0	0	0	1	0	0	0	8372	1203	42	2	1862	2	KLHL17	1	900458	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08		900458	248350163	1	105234											
AGRN	375790	broad.mit.edu	37	chr1	989347	989347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccgctggttgcgggtcGtggcacataggtgagtaggg	17	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:989347G>A	uc001ack.1	+	34	5916	c.5866G>A	c.(5866-5868)GTG>ATG	p.V1956M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1956	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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;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)		GTTGCGGGTCGTGGCACATAG	0.637													A	989347	G	A	989347	3	1	193	1	0	0	0	0	1	0	0	0	397	1145	40	1	6000	1	AGRN	1	989347	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	88889	989347	248261274	2	105235											
MIB2	142678	broad.mit.edu	37	chr1	1559291	1559291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcatgagctcgcccacGccttcgaccgctacgagacc	9	17	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:1559291G>A	uc001agg.2	+	4	686	c.559G>A	c.(559-561)GCC>ACC	p.A187T	MIB2_uc001agh.2_Missense_Mutation_p.A173T|MIB2_uc001agi.2_Missense_Mutation_p.A187T|MIB2_uc001agj.2_Missense_Mutation_p.A28T|MIB2_uc001agk.2_Missense_Mutation_p.A187T|MIB2_uc001agl.1_Missense_Mutation_p.A143T|MIB2_uc001agm.2_Missense_Mutation_p.A129T|MIB2_uc010nyq.1_Missense_Mutation_p.A143T|MIB2_uc009vkh.2_Missense_Mutation_p.A28T|MIB2_uc001agn.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	187	ZZ-type.				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				0	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)		GCTCGCCCACGCCTTCGACCG	0.687													A	1559291	G	A	1559291	3	1	193	1	0	0	0	0	1	0	0	0	9567	1087	38	1	744	1	MIB2	1	1559291	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	569944	1559291	247691330	3	105236											
SKI	6497	broad.mit.edu	37	chr1	2234752	2234752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcaccctcgccagcGcctctctgctttccgaccct	7	19	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:2234752G>A	uc001aja.3	+	3	1196	c.1124G>A	c.(1123-1125)CGC>CAC	p.R375H		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	375					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			lung(1)|central_nervous_system(1)	2	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)		CCTCGCCAGCGCCTCTCTGCT	0.617													A	2234752	G	A	2234752	3	1	193	1	0	0	0	0	1	0	0	0	14357	1087	38	1	1134	1	SKI	1	2234752	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	675461	2234752	247015869	4	105237											
MMEL1	79258	broad.mit.edu	37	chr1	2522446	2522446	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctaccacacgcggcatcGctccttggggtgcatggggg	16	12	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:2522446G>A	uc001ajy.2	-	24	2537	c.2323C>T	c.(2323-2325)CGA>TGA	p.R775*	C1orf93_uc001aju.1_3'UTR|C1orf93_uc001ajw.1_3'UTR|C1orf93_uc001ajv.1_3'UTR|C1orf93_uc010nzd.1_3'UTR|C1orf93_uc010nze.1_3'UTR|C1orf93_uc010nzf.1_3'UTR|C1orf93_uc001ajx.1_3'UTR|MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	775	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	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)		ACGCGGCATCGCTCCTTGGGG	0.701													A	2522446	G	A	2522446	4	1	193	1	0	0	0	0	0	1	0	0	9646	1095	38	1	20	1	MMEL1	1	2522446	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	287694	2522446	246728175	5	105238											
PRDM16	63976	broad.mit.edu	37	chr1	3328339	3328339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccttgtacccccggccGcctctgctacctcccacatc	5	22	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3328339G>A	uc001akf.2	+	9	1658	c.1578G>A	c.(1576-1578)CCG>CCA	p.P526P	PRDM16_uc001akc.2_Silent_p.P526P|PRDM16_uc001akd.2_Silent_p.P526P|PRDM16_uc001ake.2_Silent_p.P526P|PRDM16_uc009vlh.2_Silent_p.P227P	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	526	Pro-rich.				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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		ACCCCCGGCCGCCTCTGCTAC	0.701			T	EVI1	MDS|AML								A	3328339	G	A	3328339	2	1	193	1	0	0	0	0	0	0	0	1	12457	1074	38	1		1	PRDM16	1	3328339	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	805893	3328339	245922282	6	105239											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394493	3394493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgcggagagctgttcTtagtggaagaaaccggactt	14	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3394493T>C	uc001akg.3	+	11	1776	c.1528T>C	c.(1528-1530)TTA>CTA	p.L510L	ARHGEF16_uc001aki.2_Silent_p.L222L|ARHGEF16_uc001akj.2_Silent_p.L222L|ARHGEF16_uc010nzh.1_Silent_p.L214L	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	510	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			ovary(1)	1	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)		AGAGCTGTTCTTAGTGGAAGA	0.577													C	3394493	T	C	3394493	2	2	193	1	0	0	0	0	0	0	0	1	899	1606	56	3		3	ARHGEF16	1	3394493	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	66154	3394493	245856128	7	105240											
MEGF6	1953	broad.mit.edu	37	chr1	3428619	3428619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagcccgcgtgacacacGcacttgaaggacccctgggt	11	14	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3428619G>A	uc001akl.2	-	8	1154	c.927C>T	c.(925-927)TGC>TGT	p.C309C	MEGF6_uc001akk.2_Silent_p.C204C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	309	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			large_intestine(1)	1	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)		CGTGACACACGCACTTGAAGG	0.672													A	3428619	G	A	3428619	2	1	193	1	0	0	0	0	0	0	0	1	9462	1079	38	1		1	MEGF6	1	3428619	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	34126	3428619	245822002	8	105241											
LRRC47	57470	broad.mit.edu	37	chr1	3703715	3703715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccacggcctccgacgcGcaggtactccaggatggatc	12	16	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:3703715G>A	uc001akx.1	-	2	803	c.775C>T	c.(775-777)CGC>TGC	p.R259C		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	259					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	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)		CCTCCGACGCGCAGGTACTCC	0.473													A	3703715	G	A	3703715	3	1	193	1	0	0	0	0	1	0	0	0	9004	1087	38	1	1000	1	LRRC47	1	3703715	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	275096	3703715	245546906	9	105242											
NPHP4	261734	broad.mit.edu	37	chr1	6021934	6021934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggaagaaggtggaacGcaggctccagggccgggtgt	17	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6021934G>A	uc001alq.1	-	6	859	c.593C>T	c.(592-594)GCG>GTG	p.A198V	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	198					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		AAGGTGGAACGCAGGCTCCAG	0.532													A	6021934	G	A	6021934	3	1	193	1	0	0	0	0	1	0	0	0	10581	1087	38	1	3787	1	NPHP4	1	6021934	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2318219	6021934	243228687	10	105243											
THAP3	90326	broad.mit.edu	37	chr1	6688663	6688663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgctccgagcacttccGgccagagtgcttcagcgcct	10	16	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6688663G>A	uc001aoc.2	+	3	338	c.179G>A	c.(178-180)CGG>CAG	p.R60Q	THAP3_uc001aod.2_Missense_Mutation_p.R60Q|THAP3_uc001aoe.1_Missense_Mutation_p.R60Q			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;	60	THAP-type.						DNA binding|metal ion binding				0	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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGCACTTCCGGCCAGAGTGC	0.612													A	6688663	G	A	6688663	3	1	193	1	0	0	0	0	1	0	0	0	15842	1116	39	1	185	1	THAP3	1	6688663	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	666729	6688663	242561958	11	105244											
THAP3	90326	broad.mit.edu	37	chr1	6688716	6688716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacctaaagcacaatgccGtgcccacggtgttcgccttt	9	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6688716G>A	uc001aoc.2	+	3	391	c.232G>A	c.(232-234)GTG>ATG	p.V78M	THAP3_uc001aod.2_Missense_Mutation_p.V78M|THAP3_uc001aoe.1_Missense_Mutation_p.V78M			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;	78	THAP-type.						DNA binding|metal ion binding				0	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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCACAATGCCGTGCCCACGGT	0.592													A	6688716	G	A	6688716	3	1	193	1	0	0	0	0	1	0	0	0	15842	1145	40	1	238	1	THAP3	1	6688716	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	53	6688716	242561905	12	105245											
DNAJC11	55735	broad.mit.edu	37	chr1	6704674	6704674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacagctgcacccaaaacGctgtgcctggagatcttcct	9	14	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:6704674G>A	uc001aof.2	-	10	1147	c.1041C>T	c.(1039-1041)AGC>AGT	p.S347S	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.S347S|DNAJC11_uc010nzu.1_Silent_p.S257S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	347					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAAAACGCTGTGCCTGG	0.552													A	6704674	G	A	6704674	2	1	193	1	0	0	0	0	0	0	0	1	4630	1078	38	1		1	DNAJC11	1	6704674	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	15958	6704674	242545947	13	105246											
PARK7	11315	broad.mit.edu	37	chr1	8025476	8025477	+	Frame_Shift_Ins	INS	-	-	A													atgccagccttgaagatgcaINSaaaaaagaggtttgtaatcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:8025475_8025476C>CA	uc001aou.4	+	2	287_288	c.182_183C>CA	c.(181-183)gcafs	p.A61fs	PARK7_uc001aox.4_Frame_Shift_Ins_p.A61fs|PARK7_uc001aov.4_Frame_Shift_Ins_p.A61fs	NM_001123377	NP_009193	Q99497	PARK7_HUMAN	Homo sapiens parkinson protein 7 (PARK7), transcript variant 2, mRNA.	61					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	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;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAAGATGCAAAAAAAGAGG	0.421													A	8025477	-	A	8025476	7	5	193	1	0	1	1	0	0	0	0	0	11450	117	5	0	189	0	PARK7	1	8025476	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1320802	8025476	241225145	14	105247											
RERE	473	broad.mit.edu	37	chr1	8420552	8420552	+	Frame_Shift_Del	DEL	G	G	-													ttctggctctgggtcagcccGgggggctgggcgggcgagga					rs143760887	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:8420552delG	uc001ape.2	-	19	3825	c.3015delC	c.(3013-3015)CCCfs	p.P1005fs	RERE_uc001apf.2_Frame_Shift_Del_p.P1005fs|RERE_uc010nzx.1_Frame_Shift_Del_p.P737fs|RERE_uc001apd.2_Frame_Shift_Del_p.P451fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1005	Pro-rich.				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			ovary(1)|central_nervous_system(1)	2	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)		GGGTCAGCCCGGGGGGCTGGG	0.716													-	8420552	G	-	8420552	7	5	193	1	0	1	0	1	0	0	0	0	13231	1103	39	0	1709	0	RERE	1	8420552	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	395076	8420552	240830069	15	105248											
H6PD	9563	broad.mit.edu	37	chr1	9305054	9305054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggctgcctgcaagcccagGagctccagggacatgtctcc	13	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:9305054G>A	uc001apt.2	+	2	334	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	21	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	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)	GCAAGCCCAGGAGCTCCAGGG	0.567													A	9305054	G	A	9305054	3	1	193	1	0	0	0	0	1	0	0	0	6936	1175	41	4	63	4	H6PD	1	9305054	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	884502	9305054	239945567	16	105249											
H6PD	9563	broad.mit.edu	37	chr1	9305488	9305488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccggccaggcccgggCgcctggctgcgggttgtcct	17	15	0	0	rs143453022		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:9305488C>T	uc001apt.2	+	2	768	c.495C>T	c.(493-495)GGC>GGT	p.G165G		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	165	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	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)	CAGGCCCGGGCGCCTGGCTGC	0.607													T	9305488	C	T	9305488	2	4	193	1	0	0	0	0	0	0	0	1	6936	755	27	1		1	H6PD	1	9305488	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	434	9305488	239945133	17	105250											
UBE4B	10277	broad.mit.edu	37	chr1	10207065	10207065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgctggcctacttgaCgagagcttcctgagaagatg	13	9	0	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:10207065C>T	uc001aqs.3	+	19	3221	c.2508C>T	c.(2506-2508)GAC>GAT	p.D836D	UBE4B_uc001aqr.3_Silent_p.D707D|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.D291D|UBE4B_uc001aqt.1_Silent_p.D176D	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	836					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		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)		GCCTACTTGACGAGAGCTTCC	0.532													T	10207065	C	T	10207065	2	4	193	1	0	0	0	0	0	0	0	1	16880	535	19	1		1	UBE4B	1	10207065	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	901577	10207065	239043556	18	105251											
CORT	1325	broad.mit.edu	37	chr1	10510294	10510294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagatgccattgtcccCcggcctcctgctgctgctgc	9	18	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:10510294C>A	uc001ari.2	+	1	324	c.164C>A	c.(163-165)CCC>CAC	p.P55H	APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron	NM_001302	NP_001293	O00230	CORT_HUMAN	cortistatin preproprotein	5					inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission	extracellular region|soluble fraction	G-protein-coupled receptor binding|neuropeptide hormone activity				0	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;3.12e-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)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CCATTGTCCCCCGGCCTCCTG	0.657													A	10510294	C	A	10510294	3	1	193	1	0	0	0	0	1	0	0	0	3760	623	22	5	166	5	CORT	1	10510294	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	303229	10510294	238740327	19	105252											
PEX14	5195	broad.mit.edu	37	chr1	10659294	10659294	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtcctcttctccccaGggctgacagatgaagagatt	10	10	2	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:10659294G>T	uc001arn.2	+	4	191	c.170_splice	c.e4-1	p.G57_splice	PEX14_uc009vmu.1_Intron|PEX14_uc009vmv.2_Splice_Site|PEX14_uc010oam.1_Splice_Site|PEX14_uc010oan.1_Intron|PEX14_uc009vmw.2_Splice_Site	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14						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(1)	1	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)		CTTCTCCCCAGGGCTGACAGA	0.532													T	10659294	G	T	10659294	5	4	193	1	0	0	0	0	0	0	1	0	11742	1014	35	5	183	5	PEX14	1	10659294	Splice_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	149000	10659294	238591327	20	105253											
PTCHD2	57540	broad.mit.edu	37	chr1	11580806	11580806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggctccgccccgccagcCgggccccgctactcttccgg	12	22	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:11580806C>T	uc001ash.3	+	10	2401	c.2263C>T	c.(2263-2265)CGG>TGG	p.R755W	PTCHD2_uc001asi.1_Missense_Mutation_p.R755W	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	755	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CCCCGCCAGCCGGGCCCCGCT	0.652													T	11580806	C	T	11580806	3	4	193	1	0	0	0	0	1	0	0	0	12733	643	23	1	2297	1	PTCHD2	1	11580806	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	921512	11580806	237669815	21	105254											
FBXO6	26270	broad.mit.edu	37	chr1	11728893	11728893	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaaacgcaagtgcctgCgagagggcttcatcaccaag	12	11	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:11728893C>T	uc001aso.2	+	2	344	c.178C>T	c.(178-180)CGA>TGA	p.R60*		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	F-box only protein 6	60					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			lung(1)	1	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;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGCCTGCGAGAGGGCTT	0.632													T	11728893	C	T	11728893	4	4	193	1	0	0	0	0	0	1	0	0	5759	760	27	1	180	1	FBXO6	1	11728893	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	148087	11728893	237521728	22	105255											
CLCN6	1185	broad.mit.edu	37	chr1	11894024	11894024	+	Frame_Shift_Del	DEL	T	T	-													catttctgttccaagtggccTttttgtgccttctctgctgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:11894023_11894023CT>C	uc001ate.4	+	14	1575	c.1462_1462CT>C	c.(1462-1464)cttfs	p.L488fs	CLCN6_uc010oat.2_Frame_Shift_Del_p.L204fs|CLCN6_uc010oau.2_Frame_Shift_Del_p.L466fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	488					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|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)		TCCAAGTGGCCTTTTTGTGCC	0.488													-	11894024	T	-	11894024	7	5	193	1	0	1	0	1	0	0	0	0	3467	1609	56	0	1531	0	CLCN6	1	11894024	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	165131	11894024	237356597	23	105256											
TNFRSF8	943	broad.mit.edu	37	chr1	12202468	12202468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctggaggcggaccaTaccccccactaccccgagca	12	16	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:12202468T>C	uc001atq.2	+	15	1890	c.1668T>C	c.(1666-1668)CAT>CAC	p.H556H	TNFRSF8_uc010obc.1_Silent_p.H444H|TNFRSF8_uc001atr.2_Silent_p.H93H|TNFRSF8_uc001ats.2_Silent_p.H37H	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	556	Cytoplasmic (Potential).				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				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	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)		AGGCGGACCATACCCCCCACT	0.662													C	12202468	T	C	12202468	2	2	193	1	0	0	0	0	0	0	0	1	16296	1403	49	3		3	TNFRSF8	1	12202468	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	308444	12202468	237048153	24	105257											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835715	12835715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaagtgttggacttgcGgaatgtggatgagaacttct	12	6	2	1	rs145339247	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:12835715G>A	uc001aui.2	+	2	344	c.317G>A	c.(316-318)CGG>CAG	p.R106Q		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	106										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		TTGGACTTGCGGAATGTGGAT	0.512													A	12835715	G	A	12835715	3	1	193	1	0	0	0	0	1	0	0	0	12428	1116	39	1	323	1	PRAMEF12	1	12835715	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	633247	12835715	236414906	25	105258											
CTRC	11330	broad.mit.edu	37	chr1	15771162	15771162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtggtggatcacgccacGtgctccaggattgactggtg	14	12	1	1	rs113087202	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:15771162G>A	uc001awi.1	+	6	578	c.555G>A	c.(553-555)ACG>ACA	p.T185T	CTRC_uc001awj.1_Intron	NM_007272	NP_009203	Q99895	CTRC_HUMAN	chymotrypsin C preproprotein	185	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCACGCCACGTGCTCCAGGA	0.627													A	15771162	G	A	15771162	2	1	193	1	0	0	0	0	0	0	0	1	4027	1132	40	1		1	CTRC	1	15771162	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2935447	15771162	233479459	26	105259											
FBLIM1	54751	broad.mit.edu	37	chr1	16091539	16091539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcaccctggcacccccgCgccgcgatgtggccgtggcg	13	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:16091539C>T	uc001axd.1	+	4	504	c.61C>T	c.(61-63)CGC>TGC	p.R21C	FBLIM1_uc001axe.1_Missense_Mutation_p.R21C|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.R21C|FBLIM1_uc001axh.1_Missense_Mutation_p.R21C|FBLIM1_uc001axi.1_Missense_Mutation_p.R21C	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	21	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GGCACCCCCGCGCCGCGATGT	0.662													T	16091539	C	T	16091539	3	4	193	1	0	0	0	0	1	0	0	0	5697	768	27	1	63	1	FBLIM1	1	16091539	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	320377	16091539	233159082	27	105260											
SPEN	23013	broad.mit.edu	37	chr1	16203108	16203108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtcccctagcggcagCggctctagaagtagatcctc	11	13	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:16203108C>T	uc001axk.1	+	3	1020	c.816C>T	c.(814-816)AGC>AGT	p.S272S	SPEN_uc010obp.1_Silent_p.S231S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	272	Ser-rich.|Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		CTAGCGGCAGCGGCTCTAGAA	0.502													T	16203108	C	T	16203108	2	4	193	1	0	0	0	0	0	0	0	1	15037	767	27	1		1	SPEN	1	16203108	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	111569	16203108	233047513	28	105261											
EPHA2	1969	broad.mit.edu	37	chr1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgacgaggatgttgCgggcagccaggtcacggtgc	17	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:16458656C>T	uc001aya.1	-	13	2365	c.2228G>A	c.(2227-2229)CGC>CAC	p.R743H		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	GAGGATGTTGCGGGCAGCCAG	0.612													T	16458656	C	T	16458656	3	4	193	1	0	0	0	0	1	0	0	0	5167	768	27	1	722	1	EPHA2	1	16458656	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	255548	16458656	232791965	29	105262											
CROCC	9696	broad.mit.edu	37	chr1	17266547	17266547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacgaggacgcccagcgCgaggtgcagcggctgcggag	18	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:17266547C>T	uc001azt.2	+	13	1836	c.1767C>T	c.(1765-1767)CGC>CGT	p.R589R	CROCC_uc009voy.1_Silent_p.R292R|CROCC_uc009voz.1_Silent_p.R352R|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	589	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		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)		ACGCCCAGCGCGAGGTGCAGC	0.672													T	17266547	C	T	17266547	2	4	193	1	0	0	0	0	0	0	0	1	3893	755	27	1		1	CROCC	1	17266547	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	807891	17266547	231984074	30	105263											
PADI3	51702	broad.mit.edu	37	chr1	17603075	17603075	+	Frame_Shift_Del	DEL	C	C	-													tccatgcccagaaggtgcagCcccccgtggagctctttgtg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:17603074_17603074GC>G	uc001bai.3	+	11	1408	c.1368_1368GC>G	c.(1366-1368)cagfs	p.Q456fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	456					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)	AGAAGGTGCAGCCCCCCGTGG	0.567													-	17603075	C	-	17603075	7	5	193	1	0	1	0	1	0	0	0	0	11379	739	26	0	1415	0	PADI3	1	17603075	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	336528	17603075	231647546	31	105264											
IGSF21	84966	broad.mit.edu	37	chr1	18661448	18661448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgggcatctacgaccGcgccaccagggagaaggtgg	15	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:18661448G>A	uc001bau.1	+	4	751	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	123	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		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)		ATCTACGACCGCGCCACCAGG	0.622													A	18661448	G	A	18661448	3	1	193	1	0	0	0	0	1	0	0	0	7599	1087	38	1	382	1	IGSF21	1	18661448	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1058373	18661448	230589173	32	105265											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809556	18809556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcatcgccgtgtaccGctgcagcgccagcacccggc	13	18	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:18809556G>A	uc001bax.2	+	1	2133	c.2081G>A	c.(2080-2082)CGC>CAC	p.R694H	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R476H	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	694						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		GCCGTGTACCGCTGCAGCGCC	0.667													A	18809556	G	A	18809556	3	1	193	1	0	0	0	0	1	0	0	0	8360	1087	38	1	2083	1	KLHDC7A	1	18809556	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	148108	18809556	230441065	33	105266											
KIF17	57576	broad.mit.edu	37	chr1	21016738	21016738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacgtcatatgagttgcGcatggcagtgatgtcttcct	11	10	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:21016738G>A	uc001bdr.3	-	7	1442	c.1324C>T	c.(1324-1326)CGC>TGC	p.R442C	KIF17_uc009vpx.2_5'UTR|KIF17_uc001bds.3_Missense_Mutation_p.R442C	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	442	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		TATGAGTTGCGCATGGCAGTG	0.637													A	21016738	G	A	21016738	3	1	193	1	0	0	0	0	1	0	0	0	8279	1087	38	1	1801	1	KIF17	1	21016738	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2207182	21016738	228233883	34	105267											
SH2D5	400745	broad.mit.edu	37	chr1	21048381	21048381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccacagtcctgctcctcGtaggtggggttcaggcggcc	15	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:21048381G>A	uc001bdt.1	-	9	1549	c.924C>T	c.(922-924)TAC>TAT	p.Y308Y	SH2D5_uc009vpy.1_Silent_p.Y392Y|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	308	SH2.										0		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)		CCTGCTCCTCGTAGGTGGGGT	0.677													A	21048381	G	A	21048381	2	1	193	1	0	0	0	0	0	0	0	1	14237	1140	40	1		1	SH2D5	1	21048381	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	31643	21048381	228202240	35	105268											
EPHA8	2046	broad.mit.edu	37	chr1	22927816	22927816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccccctgccttcgtccGgagctgctttgacctccgag	9	19	0	1	rs141279306		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:22927816G>A	uc001bfx.1	+	16	2878	c.2753G>A	c.(2752-2754)CGG>CAG	p.R918Q		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	918	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GCCTTCGTCCGGAGCTGCTTT	0.682													A	22927816	G	A	22927816	3	1	193	1	0	0	0	0	1	0	0	0	5173	1116	39	1	2988	1	EPHA8	1	22927816	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1879435	22927816	226322805	36	105269											
EPHB2	2048	broad.mit.edu	37	chr1	23233308	23233308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacacggagaagcagcgccGggacttcctgagcgaagcct	13	13	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:23233308G>A	uc009vqj.1	+	11	2139	c.1994G>A	c.(1993-1995)CGG>CAG	p.R665Q	EPHB2_uc001bge.2_Missense_Mutation_p.R666Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R665Q|EPHB2_uc010odu.1_Missense_Mutation_p.R607Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	665	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		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)		AAGCAGCGCCGGGACTTCCTG	0.582									Hereditary_Prostate_Cancer				A	23233308	G	A	23233308	3	1	193	1	0	0	0	0	1	0	0	0	5175	1116	39	1	2039	1	EPHB2	1	23233308	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	305492	23233308	226017313	37	105270											
SRRM1	10250	broad.mit.edu	37	chr1	24978984	24978984	+	Frame_Shift_Del	DEL	A	A	-													gcctaaagaaccttctccggAaaaaaattccaaaaaagaaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:24978984delA	uc001bjm.2	+	7	1009	c.785delA	c.(784-786)GAAfs	p.E262fs	SRRM1_uc010oel.1_Frame_Shift_Del_p.E262fs|SRRM1_uc009vrh.1_Frame_Shift_Del_p.E223fs|SRRM1_uc009vri.1_Frame_Shift_Del_p.E179fs|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	262	Pro-rich.|Arg-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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		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)		CCTTCTCCGGAAAAAAATTCC	0.448													-	24978984	A	-	24978984	7	5	193	1	0	1	0	1	0	0	0	0	15167	246	9	0	811	0	SRRM1	1	24978984	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1745676	24978984	224271637	38	105271											
RHD	6007	broad.mit.edu	37	chr1	25611170	25611170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacctcttcatgctggcGcttggtgtgcagtgggcaat	12	10	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:25611170G>A	uc001bjz.2	+	2	313	c.255G>A	c.(253-255)GCG>GCA	p.A85A	RHD_uc010oep.1_Silent_p.A85A|RHD_uc001bkc.2_Silent_p.A85A|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.A85A|RHD_uc001bkb.2_Silent_p.A85A|RHD_uc009vrn.2_Silent_p.A85A|RHD_uc009vro.2_Silent_p.A85A|RHD_uc009vrp.2_Silent_p.A85A	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	85	Helical; (Potential).					integral to plasma membrane				breast(1)	1		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)		TCATGCTGGCGCTTGGTGTGC	0.577													A	25611170	G	A	25611170	2	1	193	1	0	0	0	0	0	0	0	1	13327	1074	38	1		1	RHD	1	25611170	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	632186	25611170	223639451	39	105272											
MAN1C1	57134	broad.mit.edu	37	chr1	26104629	26104630	+	Frame_Shift_Ins	INS	-	-	G													cttgctgaatgtctctcccgINSgggggctgacctacattgcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:26104628_26104629C>CG	uc001bkm.2	+	8	1620_1621	c.1290_1291C>CG	c.(1288-1293)cccgggfs	p.P430fs	MAN1C1_uc009vry.1_Frame_Shift_Ins_p.P250fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	430					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G431G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGTCTCTCCCGGGGGGCTGAC	0.639													G	26104630	-	G	26104629	7	5	193	1	0	1	1	0	0	0	0	0	9213	1116	39	0	1325	0	MAN1C1	1	26104629	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	493459	26104629	223145992	40	105273											
RPS6KA1	6195	broad.mit.edu	37	chr1	26885311	26885312	+	Frame_Shift_Ins	INS	-	-	C													gtacagattccccaggcatcINSccccccagcgctggggccca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:26885310_26885311T>TC	uc001bmr.1	+	13	1260_1261	c.1097_1098T>TC	c.(1096-1098)atcfs	p.I366fs	RPS6KA1_uc010ofe.1_Frame_Shift_Ins_p.I274fs|RPS6KA1_uc010off.1_Frame_Shift_Ins_p.I350fs|RPS6KA1_uc001bms.1_Frame_Shift_Ins_p.I375fs|RPS6KA1_uc009vsl.1_Frame_Shift_Ins_p.I209fs	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	366	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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)		TCCCCAGGCATCCCCCCCAGCG	0.673													C	26885312	-	C	26885311	7	5	193	1	0	1	1	0	0	0	0	0	13650	845	30	0	1291	0	RPS6KA1	1	26885311	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	780682	26885311	222365310	41	105274											
ARID1A	8289	broad.mit.edu	37	chr1	27057937	27057938	+	Frame_Shift_Ins	INS	-	-	C													gcagcacccccagagccagcINSccccctactcacagccacag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:27057936_27057937G>GC	uc001bmv.1	+	2	2017_2018	c.1644_1645G>GC	c.(1642-1647)cagcccfs	p.Q548fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q548fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q165fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	548					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y551fs*72(1)|p.Q548*(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)		CCCAGAGCCAGCCCCCCTACTC	0.649			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								C	27057938	-	C	27057937	7	5	193	1	0	1	1	0	0	0	0	0	913	739	26	0	1655	0	ARID1A	1	27057937	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	172626	27057937	222192684	42	105275											
MAP3K6	9064	broad.mit.edu	37	chr1	27682908	27682908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggccaggacataggtcCgggcttcctcattcagccgc	13	14	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:27682908C>T	uc001bny.1	-	26	3857	c.3608G>A	c.(3607-3609)CGG>CAG	p.R1203Q	MAP3K6_uc009vsw.1_Missense_Mutation_p.R1195Q	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	1203	Potential.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		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)		GACATAGGTCCGGGCTTCCTC	0.622													T	27682908	C	T	27682908	3	4	193	1	0	0	0	0	1	0	0	0	9254	652	23	1	274	1	MAP3K6	1	27682908	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	624971	27682908	221567713	43	105276											
PPP1R8	5511	broad.mit.edu	37	chr1	28176659	28176659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaatcagggagcaggcGcatgcagaactttgccttca	14	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:28176659G>A	uc001bov.1	+	7	812	c.758G>A	c.(757-759)CGC>CAC	p.R253H	PPP1R8_uc001bow.1_Missense_Mutation_p.R111H|PPP1R8_uc001box.1_Missense_Mutation_p.R29H|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	253					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|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;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGCAGGCGCATGCAGAAC	0.612													A	28176659	G	A	28176659	3	1	193	1	0	0	0	0	1	0	0	0	12377	1087	38	1	784	1	PPP1R8	1	28176659	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	493751	28176659	221073962	44	105277											
PTAFR	5724	broad.mit.edu	37	chr1	28476914	28476914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggtacggatgatgaccaGgttgcagaagaggatgatga	15	5	0	6			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:28476914G>T	uc001bpl.2	-	2	746	c.619C>A	c.(619-621)CTG>ATG	p.L207M	PTAFR_uc001bpm.3_Missense_Mutation_p.L207M|PTAFR_uc009vte.2_Missense_Mutation_p.L207M	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	207	Cytoplasmic (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATGACCAGGTTGCAGAAG	0.567													T	28476914	G	T	28476914	3	4	193	1	0	0	0	0	1	0	0	0	12723	991	35	5	413	5	PTAFR	1	28476914	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	300255	28476914	220773707	45	105278											
PTPRU	10076	broad.mit.edu	37	chr1	29644308	29644308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggaggagtgcagcatcGccctgttgccccggaaccgc	14	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:29644308G>A	uc001bru.2	+	26	3702	c.3592G>A	c.(3592-3594)GCC>ACC	p.A1198T	PTPRU_uc001brv.2_Missense_Mutation_p.A1194T|PTPRU_uc001brw.2_Missense_Mutation_p.A1188T|PTPRU_uc009vtq.2_Missense_Mutation_p.A1194T|PTPRU_uc009vtr.2_Missense_Mutation_p.A1185T|PTPRU_uc001brx.2_5'Flank	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1198	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		GTGCAGCATCGCCCTGTTGCC	0.637													A	29644308	G	A	29644308	3	1	193	1	0	0	0	0	1	0	0	0	12813	1087	38	1	3716	1	PTPRU	1	29644308	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1167394	29644308	219606313	46	105279											
CSMD2	114784	broad.mit.edu	37	chr1	34088992	34088992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactccccagcatggtTacagtgttatctgcaccatc	8	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:34088992T>C	uc001bxn.1	-	36	5609	c.5580A>G	c.(5578-5580)GTA>GTG	p.V1860V	CSMD2_uc001bxm.1_Silent_p.V1900V|CSMD2_uc001bxo.1_Silent_p.V773V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1860	CUB 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGCATGGTTACAGTGTTAT	0.438													C	34088992	T	C	34088992	2	2	193	1	0	0	0	0	0	0	0	1	3945	1741	61	3		3	CSMD2	1	34088992	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	4444684	34088992	215161629	47	105280											
ZMYM6	9204	broad.mit.edu	37	chr1	35453279	35453279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacaaattgaagaaagtaGtcaaagttccttggagactt	8	6	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35453279G>A	uc001byh.2	-	16	3632	c.3404C>T	c.(3403-3405)ACT>ATT	p.T1135I	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.T1038I	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1135					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				gaagaaagtagtcaaagttcc	0.01													A	35453279	G	A	35453279	3	1	193	1	0	0	0	0	1	0	0	0	17701	1029	36	4	577	4	ZMYM6	1	35453279	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1364287	35453279	213797342	48	105281											
ZMYM6	9204	broad.mit.edu	37	chr1	35474381	35474381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaactgtaaatttggacAtacaatcttcacaacaaaac	4	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35474381A>G	uc001byh.2	-	11	1865	c.1637T>C	c.(1636-1638)ATG>ACG	p.M546T	ZMYM6_uc001byf.1_Missense_Mutation_p.M546T|ZMYM6_uc010oht.1_Missense_Mutation_p.M449T|ZMYM6_uc009vup.2_Missense_Mutation_p.M352T|ZMYM6_uc009vuq.1_Missense_Mutation_p.M546T|ZMYM6_uc009vur.1_Missense_Mutation_p.M352T	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	546	MYM-type 8.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAATTTGGACATACAATCTTC	0.318													G	35474381	A	G	35474381	3	3	193	1	0	0	0	0	1	0	0	0	17701	217	8	3	2364	3	ZMYM6	1	35474381	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	21102	35474381	213776240	49	105282											
ZMYM6	9204	broad.mit.edu	37	chr1	35485090	35485090	+	Frame_Shift_Del	DEL	T	T	-													agtttggcccttataaagcaTttttttacaaccagaacaaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35485090delT	uc001byh.2	-	4	520	c.292delA	c.(292-294)ATGfs	p.M98fs	ZMYM6_uc001byf.1_Frame_Shift_Del_p.M98fs|ZMYM6_uc010oht.1_Frame_Shift_Del_p.M1fs|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Frame_Shift_Del_p.M98fs|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Frame_Shift_Del_p.M98fs|ZMYM6_uc001byi.2_Frame_Shift_Del_p.M98fs|ZMYM6_uc001byk.2_Frame_Shift_Del_p.M98fs	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	98					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTATAAAGCATTTTTTTACAA	0.453													-	35485090	T	-	35485090	7	5	193	1	0	1	0	1	0	0	0	0	17701	1493	52	0	3737	0	ZMYM6	1	35485090	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	10709	35485090	213765531	50	105283											
ZMYM4	9202	broad.mit.edu	37	chr1	35836080	35836080	+	Frame_Shift_Del	DEL	A	A	-													gagtttcctgttctggttgtAaaaaaatcctccagaagggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:35836079_35836079TA>T	uc001byt.3	+	6	1112	c.1032_1032TA>T	c.(1030-1032)tgtfs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Del_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Del_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCC	0.478													-	35836080	A	-	35836080	7	5	193	1	0	1	0	1	0	0	0	0	17699	363	13	0	1059	0	ZMYM4	1	35836080	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	350990	35836080	213414541	51	105284											
CSF3R	1441	broad.mit.edu	37	chr1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-													ttgttgctattgctcgcgctGggggggcccaggccccactc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:36935322_36935322TG>T	uc001caw.2	-	10	1989	c.1405_1405CA>A	c.(1405-1407)agcfs	p.S469fs	CSF3R_uc001cav.2_Frame_Shift_Del_p.S469fs|CSF3R_uc001cax.2_Frame_Shift_Del_p.S469fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCC	0.637													-	36935323	G	-	36935323	7	5	193	1	0	1	0	1	0	0	0	0	3937	1335	47	0	1324	0	CSF3R	1	36935323	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	1099243	36935323	212315298	52	105285											
MACF1	23499	broad.mit.edu	37	chr1	39903506	39903506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctttcctctcgcctgCgtatgccaccactgatccct	6	16	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:39903506C>T	uc010oiu.1	+	36	13506	c.13375C>T	c.(13375-13377)CGT>TGT	p.R4459C	MACF1_uc010ois.1_Missense_Mutation_p.R3957C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			CTCTCGCCTGCGTATGCCACC	0.448													T	39903506	C	T	39903506	3	4	193	1	0	0	0	0	1	0	0	0	9144	768	27	1	18286	1	MACF1	1	39903506	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2968183	39903506	209347115	53	105286											
RLF	6018	broad.mit.edu	37	chr1	40704624	40704624	+	Frame_Shift_Del	DEL	T	T	-													ccagcctcagtgccctgctgTtttttatacattcaacaagt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:40704623_40704623GT>G	uc001cfc.4	+	7	4280	c.4249_4249GT>G	c.(4249-4251)gttfs	p.V1417fs	RLF_uc001cfd.4_Frame_Shift_Del_p.V1108fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1417					DNA integration|DNA mediated transformation|chromosome organization|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)			GTGCCCTGCTGTTTTTTATAC	0.383													-	40704624	T	-	40704624	7	5	193	1	0	1	0	1	0	0	0	0	13389	1725	60	0	4280	0	RLF	1	40704624	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	801118	40704624	208545997	54	105287											
HIVEP3	59269	broad.mit.edu	37	chr1	42049803	42049803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagaagccacaggggccGcaggggtagggcctctcacc	16	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:42049803G>A	uc001cgz.3	-	4	1879	c.666C>T	c.(664-666)TGC>TGT	p.C222C	HIVEP3_uc001cha.3_Silent_p.C222C|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	222	C2H2-type 2.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|ZAS1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACAGGGGCCGCAGGGGTAGG	0.602													A	42049803	G	A	42049803	2	1	193	1	0	0	0	0	0	0	0	1	7188	1079	38	1		1	HIVEP3	1	42049803	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1345179	42049803	207200818	55	105288											
YBX1	4904	broad.mit.edu	37	chr1	43162317	43162317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatggcttttgtagggtgCggaggcagcaaatgttacag	15	5	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:43162317C>T	uc001chs.2	+	5	530	c.359C>T	c.(358-360)GCG>GTG	p.A120V		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	120	CSD.			A -> E (in Ref. 2; AAA61308).	CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGTAGGGTGCGGAGGCAGCA	0.413													T	43162317	C	T	43162317	3	4	193	1	0	0	0	0	1	0	0	0	17466	768	27	1	377	1	YBX1	1	43162317	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1112514	43162317	206088304	56	105289											
LEPRE1	64175	broad.mit.edu	37	chr1	43215906	43215906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaggaaaagtagaggggCgtatccaggcggaagtagga	18	4	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:43215906C>T	uc001chv.2	-	11	1784	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T	LEPRE1_uc001chw.2_Silent_p.T557T|LEPRE1_uc001chx.3_Silent_p.T557T	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	557					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			ovary(3)|lung(1)	4	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)	AGTAGAGGGGCGTATCCAGGC	0.552													T	43215906	C	T	43215906	2	4	193	1	0	0	0	0	0	0	0	1	8729	755	27	1		1	LEPRE1	1	43215906	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	53589	43215906	206034715	57	105290											
DPH2	1802	broad.mit.edu	37	chr1	44436283	44436283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataggttgccttgcagttcCctgaccagctattgggagat	11	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:44436283C>T	uc001ckz.2	+	2	358	c.163C>T	c.(163-165)CCT>TCT	p.P55S	DPH2_uc001cla.2_Missense_Mutation_p.P55S|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	55					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTTGCAGTTCCCTGACCAGCT	0.537													T	44436283	C	T	44436283	3	4	193	1	0	0	0	0	1	0	0	0	4720	623	22	4	169	4	DPH2	1	44436283	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1220377	44436283	204814338	58	105291											
DMAP1	55929	broad.mit.edu	37	chr1	44685744	44685744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcaatgagctgcgaagCgacctggtgctgctctacga	12	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:44685744C>T	uc001clq.1	+	10	1187	c.1107C>T	c.(1105-1107)AGC>AGT	p.S369S	DMAP1_uc001clr.1_Silent_p.S369S|DMAP1_uc001cls.1_Silent_p.S369S|DMAP1_uc010oku.1_Silent_p.S359S	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	369					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				0	Acute lymphoblastic leukemia(166;0.155)					AGCTGCGAAGCGACCTGGTGC	0.642											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44685744	C	T	44685744	2	4	193	1	0	0	0	0	0	0	0	1	4576	767	27	1		1	DMAP1	1	44685744	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	249461	44685744	204564877	59	105292											
KIF2C	11004	broad.mit.edu	37	chr1	45216216	45216216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagctgcaaactcccGcaagcagttttcagttcctc	8	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45216216G>A	uc001cmg.3	+	5	534	c.419G>A	c.(418-420)CGC>CAC	p.R140H	KIF2C_uc010olb.1_Missense_Mutation_p.R140H|KIF2C_uc010olc.1_Missense_Mutation_p.R27H|KIF2C_uc001cmh.3_Missense_Mutation_p.R86H	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	140	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCAAACTCCCGCAAGCAGTTT	0.552													A	45216216	G	A	45216216	3	1	193	1	0	0	0	0	1	0	0	0	8299	1087	38	1	437	1	KIF2C	1	45216216	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	530472	45216216	204034405	60	105293											
PLK3	1263	broad.mit.edu	37	chr1	45268997	45268997	+	Frame_Shift_Del	DEL	C	C	-													tgacagtcccagacctgacaCcccccaacccagctaggagt					rs112574988		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45268997delC	uc001cmn.2	+	8	1106	c.1006delC	c.(1006-1008)CCCfs	p.P336fs	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	336						membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					AGACCTGACACCCCCCAACCC	0.577													-	45268997	C	-	45268997	7	5	193	1	0	1	0	1	0	0	0	0	12097	507	18	0	1036	0	PLK3	1	45268997	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	52781	45268997	203981624	61	105294											
PTCH2	8643	broad.mit.edu	37	chr1	45293142	45293142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccggtgggggcagcaccGccttgagggaactgaagcgc	18	11	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45293142G>A	uc010olf.1	-	15	2315	c.2303C>T	c.(2302-2304)GCG>GTG	p.A768V	PTCH2_uc010olg.1_Missense_Mutation_p.A466V	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	768	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGGCAGCACCGCCTTGAGGGA	0.662									Basal_Cell_Nevus_syndrome				A	45293142	G	A	45293142	3	1	193	1	0	0	0	0	1	0	0	0	12731	1087	38	1	1360	1	PTCH2	1	45293142	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	24145	45293142	203957479	62	105295											
HECTD3	79654	broad.mit.edu	37	chr1	45476257	45476257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgccaaagagctgctgcTgccgctggaggtggttggga	16	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:45476257T>C	uc009vxk.2	-	2	589	c.491A>G	c.(490-492)CAG>CGG	p.Q164R	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Intron|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank|UROD_uc010olj.1_5'Flank|UROD_uc001cnc.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	164					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					GAGCTGCTGCTGCCGCTGGAG	0.687													C	45476257	T	C	45476257	3	2	193	1	0	0	0	0	1	0	0	0	7041	1580	55	3	2174	3	HECTD3	1	45476257	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	183115	45476257	203774364	63	105296											
KIAA0494	9813	broad.mit.edu	37	chr1	47152515	47152515	+	Frame_Shift_Del	DEL	T	T	-													gacttgatccaaagactgtcTtttcagagtggcagatctat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:47152514_47152514CT>C	uc001cqk.4	-	7	1993	c.1016_1016AG>G	c.(1015-1017)agafs	p.R339fs	KIAA0494_uc010omh.1_Frame_Shift_Del_p.R275fs|LOC100130197_uc021ond.1_Intron|LOC100130197_uc021one.1_Intron|KIAA0494_uc010omj.2_Frame_Shift_Del_p.R131fs	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	339							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					CAAAGACTGTCTTTTCAGAGT	0.368													-	47152515	T	-	47152515	7	5	193	1	0	1	0	1	0	0	0	0	8179	1617	56	0	488	0	KIAA0494	1	47152515	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1676258	47152515	202098106	64	105297											
CYP4X1	260293	broad.mit.edu	37	chr1	47489621	47489621	+	Frame_Shift_Del	DEL	C	C	-													cggctgctgcgggacctgcgCcccttcccagcgccccccac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:47489621delC	uc001cqt.2	+	1	382	c.132delC	c.(130-132)CGCfs	p.R44fs	CYP4X1_uc001cqr.2_Intron|CYP4X1_uc001cqs.2_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	44						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						GGGACCTGCGCCCCTTCCCAG	0.488													-	47489621	C	-	47489621	7	5	193	1	0	1	0	1	0	0	0	0	4193	726	26	0	134	0	CYP4X1	1	47489621	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	337106	47489621	201761000	65	105298											
FAF1	11124	broad.mit.edu	37	chr1	51323599	51323599	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagaaaaaagtacttAccactaagtcccaattattt	5	7	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:51323599A>G	uc009vyx.1	-	3	177	c.114_splice	c.e3+1	p.V38_splice	FAF1_uc009vyw.1_Splice_Site|FAF1_uc001cse.1_Splice_Site_p.V38_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1						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.0?(2)		ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AAAAGTACTTACCACTAAGTC	0.303													G	51323599	A	G	51323599	5	3	193	1	0	0	0	0	0	0	1	0	5369	405	14	3	1908	3	FAF1	1	51323599	Splice_Site	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3833978	51323599	197927022	66	105299											
PODN	127435	broad.mit.edu	37	chr1	53546514	53546514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgcccgccaatgccttcGactccacgcccaacctcaag	8	19	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:53546514G>A	uc001cuv.2	+	9	1778	c.1771G>A	c.(1771-1773)GAC>AAC	p.D591N	PODN_uc001cuw.2_Missense_Mutation_p.D572N|PODN_uc010onr.1_Missense_Mutation_p.D572N|PODN_uc010ons.1_Missense_Mutation_p.D449N	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	543	LRR 18.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						CAATGCCTTCGACTCCACGCC	0.617													A	53546514	G	A	53546514	3	1	193	1	0	0	0	0	1	0	0	0	12178	1058	37	1	1805	1	PODN	1	53546514	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2222915	53546514	195704107	67	105300											
DMRTB1	63948	broad.mit.edu	37	chr1	53925671	53925671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctgcgcaggccgatgcGgaccgtgcccggcccactgt	14	16	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:53925671G>A	uc001cvq.1	+	1	600	c.545G>A	c.(544-546)CGG>CAG	p.R182Q		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	182	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						AGGCCGATGCGGACCGTGCCC	0.721													A	53925671	G	A	53925671	3	1	193	1	0	0	0	0	1	0	0	0	4590	1116	39	1	547	1	DMRTB1	1	53925671	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	379157	53925671	195324950	68	105301											
TMEM59	9528	broad.mit.edu	37	chr1	54506485	54506485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagaaaattcctgtgCgcttgtgaatttctcatttg	7	8	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:54506485C>T	uc001cwp.2	-	6	901	c.651G>A	c.(649-651)GCG>GCA	p.A217A	TMEM59_uc001cwn.2_Silent_p.A81A|TMEM59_uc001cwo.2_Silent_p.A80A|TMEM59_uc001cwq.2_Silent_p.A218A|TMEM59_uc001cwr.2_Silent_p.A150A|TMEM59_uc001cws.1_Silent_p.A229A	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	217	Extracellular (Potential).					Golgi membrane|integral to membrane					0						AATTCCTGTGCGCTTGTGAAT	0.338													T	54506485	C	T	54506485	2	4	193	1	0	0	0	0	0	0	0	1	16182	755	27	1		1	TMEM59	1	54506485	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	580814	54506485	194744136	69	105302											
TMEM59	9528	broad.mit.edu	37	chr1	54509067	54509067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaatataactatttttccGtcatcggcttgaagataaaa	7	6	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:54509067G>A	uc001cwp.2	-	4	772	c.522C>T	c.(520-522)GAC>GAT	p.D174D	TMEM59_uc001cwn.2_Silent_p.D37D|TMEM59_uc001cwo.2_Silent_p.D37D|TMEM59_uc001cwq.2_Silent_p.D174D|TMEM59_uc001cwr.2_Silent_p.D107D|TMEM59_uc001cws.1_Silent_p.D185D	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	174	Extracellular (Potential).					Golgi membrane|integral to membrane					0						CTATTTTTCCGTCATCGGCTT	0.388													A	54509067	G	A	54509067	2	1	193	1	0	0	0	0	0	0	0	1	16182	1136	40	1		1	TMEM59	1	54509067	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2582	54509067	194741554	70	105303											
FAM151A	338094	broad.mit.edu	37	chr1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-													gtgttgtcactgtagatagtGggggggtgtgccatgatggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:55081756_55081756TG>T	uc001cxn.3	-	2	484	c.352_352CA>A	c.(352-354)actfs	p.T118fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGT	0.592													-	55081757	G	-	55081757	7	5	193	1	0	1	0	1	0	0	0	0	5458	1335	47	0	1430	0	FAM151A	1	55081757	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	572690	55081757	194168864	71	105304											
C8B	732	broad.mit.edu	37	chr1	57431549	57431549	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggagccaggcaaactgaGacagcccagggcagcacaga	13	13	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:57431549G>T	uc001cyp.2	-	1	140	c.73C>A	c.(73-75)CTC>ATC	p.L25I	C8B_uc010oon.1_5'UTR|C8B_uc010ooo.1_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	25					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						GGCAAACTGAGACAGCCCAGG	0.502													T	57431549	G	T	57431549	3	4	193	1	0	0	0	0	1	0	0	0	2417	942	33	5	1750	5	C8B	1	57431549	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2349792	57431549	191819072	72	105305											
JUN	3725	broad.mit.edu	37	chr1	59248342	59248342	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccgttgaccggctgcGccgccgacgtgacgctgggc	15	17	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:59248342G>T	uc001cze.2	-	1	1444	c.401C>A	c.(400-402)GCG>GAG	p.A134E	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	134					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				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GACCGGCTGCGCCGCCGACGT	0.716			A		sarcoma								T	59248342	G	T	59248342	3	4	193	1	0	0	0	0	1	0	0	0	7969	1087	38	5	598	5	JUN	1	59248342	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1816793	59248342	190002279	73	105306											
L1TD1	54596	broad.mit.edu	37	chr1	62676171	62676171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cataaaaagcattcacatacAaatttgagtatttcaacagg	5	7	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:62676171A>G	uc001dae.3	+	4	2027	c.1725A>G	c.(1723-1725)ACA>ACG	p.T575T		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	575										ovary(1)|skin(1)	2						ATTCACATACAAATTTGAGTA	0.378													G	62676171	A	G	62676171	2	3	193	1	0	0	0	0	0	0	0	1	8589	117	5	3		3	L1TD1	1	62676171	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3427829	62676171	186574450	74	105307											
KANK4	163782	broad.mit.edu	37	chr1	62740642	62740642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtttcccttctcgatgTcatccacatacttgaggaag	8	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:62740642T>C	uc001dah.3	-	3	511	c.134A>G	c.(133-135)GAC>GGC	p.D45G	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	45										ovary(3)|skin(2)|lung(1)	6						CTTCTCGATGTCATCCACATA	0.488													C	62740642	T	C	62740642	3	2	193	1	0	0	0	0	1	0	0	0	7979	1667	58	3	2885	3	KANK4	1	62740642	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	64471	62740642	186509979	75	105308											
FOXD3	27022	broad.mit.edu	37	chr1	63789164	63789164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgaagccgccttactcGtacatcgcgctcatcaccat	7	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:63789164G>A	uc001dax.2	+	1	435	c.435G>A	c.(433-435)TCG>TCA	p.S145S		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	145	Fork-head.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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				0						CGCCTTACTCGTACATCGCGC	0.458													A	63789164	G	A	63789164	2	1	193	1	0	0	0	0	0	0	0	1	5998	1132	40	1		1	FOXD3	1	63789164	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1048522	63789164	185461457	76	105309											
EFCAB7	84455	broad.mit.edu	37	chr1	63991248	63991248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattttccaatagaatggCgatcagtccacgaagcgatg	9	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:63991248C>T	uc001dbf.2	+	2	299	c.5C>T	c.(4-6)GCG>GTG	p.A2V	ITGB3BP_uc001dba.1_5'Flank|ITGB3BP_uc001dbb.1_5'Flank|ITGB3BP_uc001dbc.1_5'Flank|ITGB3BP_uc001dbd.1_5'Flank|ITGB3BP_uc009wak.1_5'Flank	NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	2							calcium ion binding				0						AATAGAATGGCGATCAGTCCA	0.368													T	63991248	C	T	63991248	3	4	193	1	0	0	0	0	1	0	0	0	4940	768	27	1	7	1	EFCAB7	1	63991248	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	202084	63991248	185259373	77	105310											
ROR1	4919	broad.mit.edu	37	chr1	64608333	64608333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgacatcccagcgtgcGgtaaatagaagtcattgccc	11	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:64608333G>A	uc001dbj.2	+	7	1573	c.1174G>A	c.(1174-1176)GAT>AAT	p.D392N	ROR1_uc001dbi.3_Missense_Mutation_p.G392S|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	392	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CCCAGCGTGCGGTAAATAGAA	0.443													A	64608333	G	A	64608333	3	1	193	1	0	0	0	0	1	0	0	0	13526	1130	39	1	1200	1	ROR1	1	64608333	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	617085	64608333	184642288	78	105311											
RAVER2	55225	broad.mit.edu	37	chr1	65243369	65243369	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagatgtttcatcaatattCttttagaggaaaagacttaa	6	5	4	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:65243369C>T	uc001dbs.1	+	3	458	c.380C>T	c.(379-381)TCT>TTT	p.S127F	RAVER2_uc001dbt.1_Missense_Mutation_p.S6F|RAVER2_uc010opb.1_Missense_Mutation_p.S6F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	127	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						CATCAATATTCTTTTAGAGGA	0.343													T	65243369	C	T	65243369	3	4	193	1	0	0	0	0	1	0	0	0	13095	913	32	4	390	4	RAVER2	1	65243369	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	635036	65243369	184007252	79	105312											
IL12RB2	3595	broad.mit.edu	37	chr1	67787572	67787572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagagatcttcgttggtGgtgagcattccattttgaat	12	6	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:67787572G>A	uc001ddu.2	+	3	1004	c.364G>A	c.(364-366)GTT>ATT	p.V122I	IL12RB2_uc010oqi.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqj.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqm.1_Missense_Mutation_p.V122I|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	122	Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						CTTCGTTGGTGGTGAGCATTC	0.368													A	67787572	G	A	67787572	3	1	193	1	0	0	0	0	1	0	0	0	7627	1362	47	4	370	4	IL12RB2	1	67787572	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2544203	67787572	181463049	80	105313											
SLC44A5	204962	broad.mit.edu	37	chr1	75681465	75681465	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggcatttctgtttaaaaActttattgcattttccaaac	4	7	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:75681465A>C	uc001dgu.2	-	19	1846	c.1702T>G	c.(1702-1704)TTT>GTT	p.F568V	SLC44A5_uc001dgt.2_Missense_Mutation_p.F568V|SLC44A5_uc001dgs.2_Missense_Mutation_p.F526V|SLC44A5_uc001dgr.2_Missense_Mutation_p.F526V|SLC44A5_uc010oqz.1_Missense_Mutation_p.F607V|SLC44A5_uc010ora.1_Missense_Mutation_p.F562V|SLC44A5_uc010orb.1_Missense_Mutation_p.F438V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	568	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						CTGTTTAAAAACTTTATTGCA	0.353													C	75681465	A	C	75681465	3	2	193	1	0	0	0	0	1	0	0	0	14639	43	2	5	592	5	SLC44A5	1	75681465	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	7893893	75681465	173569156	81	105314											
FUBP1	8880	broad.mit.edu	37	chr1	78426155	78426155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggggcccatggggtacaGgtggccctaaaggatttact	14	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:78426155G>T	uc001dii.2	-	15	1459	c.1370C>A	c.(1369-1371)CCT>CAT	p.P457H	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P478H	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	457	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						ATGGGGTACAGGTGGCCCTAA	0.493													T	78426155	G	T	78426155	3	4	193	1	0	0	0	0	1	0	0	0	6092	1000	35	5	588	5	FUBP1	1	78426155	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2744690	78426155	170824466	82	105315											
PTGFR	5737	broad.mit.edu	37	chr1	78958519	78958519	+	Frame_Shift_Del	DEL	T	T	-													cggaaaaccggctttccgtaTttttttcagtaatcttcatg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:78958519delT	uc001din.2	+	2	357	c.91delT	c.(91-93)TTTfs	p.F31fs	PTGFR_uc001dim.2_Frame_Shift_Del_p.F31fs	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	31	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCTTTCCGTATTTTTTTCAGT	0.453													-	78958519	T	-	78958519	7	5	193	1	0	1	0	1	0	0	0	0	12749	1493	52	0	93	0	PTGFR	1	78958519	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	532364	78958519	170292102	83	105316											
SH3GLB1	51100	broad.mit.edu	37	chr1	87188335	87188337	+	In_Frame_Del	DEL	AGG	AGG	-													cctttaagaaactttatagaAggagattacaaaacaattgc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:87188334_87188336AAGG>A	uc001dly.3	+	3	785_787	c.455_457AAGG>A	c.(454-459)gaagga>gAga	p.G153del	SH3GLB1_uc001dlw.3_In_Frame_Del_p.G153del|SH3GLB1_uc001dlz.3_In_Frame_Del_p.G53del|SH3GLB1_uc001dlx.3_In_Frame_Del_p.G153del	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	153	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			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)		AACTTTATAGAAGGAGATTACAA	0.291													-	87188337	AGG	-	87188335	7	5	193	1	0	1	0	1	0	0	0	0	14253	69	3	0	470	0	SH3GLB1	1	87188335	In_Frame_Del	DEL	AGG	TCGA-CG-5726-01A-11D-1600-08	8229816	87188335	162062286	84	105317											
CCBL2	56267	broad.mit.edu	37	chr1	89426867	89426867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacctatttttaagtgcttaTttccagaatatacaagccat	4	8	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:89426867T>A	uc001dmp.2	-	8	1147	c.770A>T	c.(769-771)AAT>ATT	p.N257I	CCBL2_uc001dmq.2_Missense_Mutation_p.N223I|CCBL2_uc001dmr.2_Missense_Mutation_p.N93I	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	257					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			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAGTGCTTATTTCCAGAATA	0.383													A	89426867	T	A	89426867	3	1	193	1	0	0	0	0	1	0	0	0	2733	1493	52	5	622	5	CCBL2	1	89426867	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2238532	89426867	159823754	85	105318											
GBP3	2635	broad.mit.edu	37	chr1	89478880	89478880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttacgaggcccattgaCcttgatgcctcctgaaagag	11	11	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:89478880C>T	uc001dmt.2	-	6	1061	c.856G>A	c.(856-858)GTC>ATC	p.V286I	GBP3_uc010oss.1_Missense_Mutation_p.V207I|GBP3_uc001dmu.2_Missense_Mutation_p.V152I|GBP3_uc001dmv.2_RNA	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	286						integral to membrane	GTP binding|GTPase activity			ovary(1)|pancreas(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GGCCCATTGACCTTGATGCCT	0.333													T	89478880	C	T	89478880	3	4	193	1	0	0	0	0	1	0	0	0	6275	507	18	4	955	4	GBP3	1	89478880	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	52013	89478880	159771741	86	105319											
AGL	178	broad.mit.edu	37	chr1	100361928	100361928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatactgctgattactggaCgctatgtagaagccaggtag	12	7	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:100361928C>T	uc001dsi.1	+	25	3746	c.3346C>T	c.(3346-3348)CGC>TGC	p.R1116C	AGL_uc001dsj.1_Missense_Mutation_p.R1116C|AGL_uc001dsk.1_Missense_Mutation_p.R1116C|AGL_uc001dsl.1_Missense_Mutation_p.R1116C|AGL_uc001dsm.1_Missense_Mutation_p.R1100C|AGL_uc001dsn.1_Missense_Mutation_p.R1099C	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1116	4-alpha-glucanotransferase.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		GATTACTGGACGCTATGTAGA	0.408													T	100361928	C	T	100361928	3	4	193	1	0	0	0	0	1	0	0	0	384	536	19	1	3509	1	AGL	1	100361928	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	10883048	100361928	148888693	87	105320											
SASS6	163786	broad.mit.edu	37	chr1	100584676	100584676	+	Frame_Shift_Del	DEL	T	T	-													cgtaacttatctaattcttgTtttttttctgctaatgtcta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:100584676delT	uc001dsu.2	-	7	708	c.567delA	c.(565-567)AAAfs	p.K189fs	SASS6_uc009wdz.2_Frame_Shift_Del_p.K22fs	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	189	Potential.				centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		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)		CTAATTCTTGTTTTTTTTCTG	0.318													-	100584676	T	-	100584676	7	5	193	1	0	1	0	1	0	0	0	0	13850	1722	60	0	1450	0	SASS6	1	100584676	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	222748	100584676	148665945	88	105321											
AMY2A	279	broad.mit.edu	37	chr1	104160223	104160223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccgaagggatttggagGggttcaggtgggtatgattc	17	5	1	1	rs148925092		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:104160223G>A	uc001dut.2	+	1	225	c.161G>A	c.(160-162)GGG>GAG	p.G54E	AMY2A_uc010ouq.1_Missense_Mutation_p.G54E	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	54					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GGATTTGGAGGGGTTCAGGTG	0.413													A	104160223	G	A	104160223	3	1	193	1	0	0	0	0	1	0	0	0	594	1232	43	4	163	4	AMY2A	1	104160223	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3575547	104160223	145090398	89	105322											
CELSR2	1952	broad.mit.edu	37	chr1	109813153	109813153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggcactcactgaggtgCgcgatgtcaacaccggcccc	12	16	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:109813153C>T	uc001dxa.3	+	24	7475	c.7414C>T	c.(7414-7416)CGC>TGC	p.R2472C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2472	Cytoplasmic (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		CACTGAGGTGCGCGATGTCAA	0.607													T	109813153	C	T	109813153	3	4	193	1	0	0	0	0	1	0	0	0	3222	768	27	1	7508	1	CELSR2	1	109813153	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5652930	109813153	139437468	90	105323											
GSTM4	2948	broad.mit.edu	37	chr1	110199841	110199841	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccccacggcagctccTgactatgacagaagccagtg	9	14	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:110199841T>C	uc001dyf.2	+	3	431	c.117T>C	c.(115-117)CCT>CCC	p.P39P	GSTM4_uc009wfi.2_3'UTR|GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Silent_p.P39P|GSTM4_uc001dyh.2_Silent_p.P39P|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	39	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		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)	CGGCAGCTCCTGACTATGACA	0.567													C	110199841	T	C	110199841	2	2	193	1	0	0	0	0	0	0	0	1	6840	1567	55	3		3	GSTM4	1	110199841	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	386688	110199841	139050780	91	105324											
KCNA2	3737	broad.mit.edu	37	chr1	111147202	111147202	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catttcggagggggtcaaagTacctcattcgtttctttggg	12	8	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111147202T>A	uc001dzu.2	-	2	699	c.203A>T	c.(202-204)TAC>TTC	p.Y68F	KCNA2_uc009wfv.1_Missense_Mutation_p.Y68F|KCNA2_uc009wfw.2_Missense_Mutation_p.Y68F	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	68						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		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)		GGGGTCAAAGTACCTCATTCG	0.517													A	111147202	T	A	111147202	3	1	193	1	0	0	0	0	1	0	0	0	8003	1638	57	5	1300	5	KCNA2	1	111147202	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	947361	111147202	138103419	92	105325											
KCNA3	3738	broad.mit.edu	37	chr1	111216300	111216300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccccttggagtggcgcgAcagcttgaagatgcggaaga	15	10	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111216300A>G	uc001dzv.1	-	1	1356	c.1132T>C	c.(1132-1134)TCG>CCG	p.S378P		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	378	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		GAGTGGCGCGACAGCTTGAAG	0.592													G	111216300	A	G	111216300	3	3	193	1	0	0	0	0	1	0	0	0	8004	275	10	3	599	3	KCNA3	1	111216300	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	69098	111216300	138034321	93	105326											
KCNA3	3738	broad.mit.edu	37	chr1	111216362	111216362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggatggccagagacatgGcctgctgtccattgccctgt	12	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111216362G>A	uc001dzv.1	-	1	1294	c.1070C>T	c.(1069-1071)GCC>GTC	p.A357V		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	357						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		CAGAGACATGGCCTGCTGTCC	0.562													A	111216362	G	A	111216362	3	1	193	1	0	0	0	0	1	0	0	0	8004	1203	42	2	661	2	KCNA3	1	111216362	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	62	111216362	138034259	94	105327											
DRAM2	128338	broad.mit.edu	37	chr1	111667451	111667451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttgatgataacgttctcTtcaggactcagagcatgaac	8	8	3	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:111667451T>C	uc001ead.3	-	5	509	c.252A>G	c.(250-252)GAA>GAG	p.E84E	DRAM2_uc001eae.3_Silent_p.E84E|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Intron	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	84					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						TAACGTTCTCTTCAGGACTCA	0.353													C	111667451	T	C	111667451	2	2	193	1	0	0	0	0	0	0	0	1	4754	1606	56	3		3	DRAM2	1	111667451	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	451089	111667451	137583170	95	105328											
RSBN1	54665	broad.mit.edu	37	chr1	114308955	114308955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgccgaaactgttttgaActgatgaatgacatttctag	8	9	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:114308955A>G	uc001edq.2	-	7	2092	c.2056T>C	c.(2056-2058)TTC>CTC	p.F686L	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	686						nucleus				ovary(1)	1	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)		ACTGTTTTGAACTGATGAATG	0.423													G	114308955	A	G	114308955	3	3	193	1	0	0	0	0	1	0	0	0	13696	43	2	3	356	3	RSBN1	1	114308955	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2641504	114308955	134941666	96	105329											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454003	114454003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagccgaaaaatccacagCtcccaccctgatatccacgt	5	16	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:114454003C>T	uc001eeg.2	+	4	960	c.789C>T	c.(787-789)AGC>AGT	p.S263S	DCLRE1B_uc001eeh.2_Silent_p.S137S|DCLRE1B_uc001eei.2_Silent_p.S137S	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	263					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				0	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)		AAATCCACAGCTCCCACCCTG	0.532								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	114454003	C	T	114454003	2	4	193	1	0	0	0	0	0	0	0	1	4295	796	28	2		2	DCLRE1B	1	114454003	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	145048	114454003	134796618	97	105330											
HIPK1	204851	broad.mit.edu	37	chr1	114516066	114516066	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcctacattgggtcttccCgaggctcaacaatttacact	6	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:114516066C>T	uc001eem.2	+	16	3726	c.3565C>T	c.(3565-3567)CGA>TGA	p.R1189*	HIPK1_uc001een.2_Nonsense_Mutation_p.R1189*|HIPK1_uc001eeo.2_Nonsense_Mutation_p.R815*|HIPK1_uc001eep.2_Nonsense_Mutation_p.R795*|HIPK1_uc001eeq.2_Nonsense_Mutation_p.R481*	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	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)		TGGGTCTTCCCGAGGCTCAAC	0.542													T	114516066	C	T	114516066	4	4	193	1	0	0	0	0	0	1	0	0	7116	644	23	1	3725	1	HIPK1	1	114516066	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	62063	114516066	134734555	98	105331											
SPAG17	200162	broad.mit.edu	37	chr1	118537093	118537093	+	Frame_Shift_Del	DEL	T	T	-													gagggacaattgtatcttccTtttttacttgccatggtgat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:118537093delT	uc001ehk.2	-	35	5182	c.5114delA	c.(5113-5115)AAGfs	p.K1705fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1705						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TGTATCTTCCTTTTTTACTTG	0.413													-	118537093	T	-	118537093	7	5	193	1	0	1	0	1	0	0	0	0	14979	1609	56	0	1613	0	SPAG17	1	118537093	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	4021027	118537093	130713528	99	105332											
HMGCS2	3158	broad.mit.edu	37	chr1	120298076	120298076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcgaggccaggcacccGtacagggatgaggtgtacat	15	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:120298076G>A	uc001eid.2	-	6	1212	c.1161C>T	c.(1159-1161)TAC>TAT	p.Y387Y	HMGCS2_uc010oxj.1_Silent_p.Y345Y|HMGCS2_uc001eie.2_Silent_p.Y295Y	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	387					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	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)		CCAGGCACCCGTACAGGGATG	0.562													A	120298076	G	A	120298076	2	1	193	1	0	0	0	0	0	0	0	1	7233	1140	40	1		1	HMGCS2	1	120298076	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1760983	120298076	128952545	100	105333											
NOTCH2	4853	broad.mit.edu	37	chr1	120491722	120491722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagggtttggggaacagGgagccaatactgtctgacaa	13	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:120491722G>T	uc001eik.2	-	16	2763	c.2507C>A	c.(2506-2508)CCC>CAC	p.P836H	NOTCH2_uc001eil.2_Missense_Mutation_p.P836H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	836	Extracellular (Potential).|EGF-like 22.				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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TGGGGAACAGGGAGCCAATAC	0.413			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)	T	120491722	G	T	120491722	3	4	193	1	0	0	0	0	1	0	0	0	10548	1232	43	5	4984	5	NOTCH2	1	120491722	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	193646	120491722	128758899	101	105334											
PDZK1	5174	broad.mit.edu	37	chr1	145762320	145762320	+	Frame_Shift_Del	DEL	A	A	-													aaccatgactcgcacatggcAaaagaacgggtgagtggggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:145762320delA	uc001eon.1	+	9	1594	c.1497delA	c.(1495-1497)GCAfs	p.A499fs	NBPF10_uc001emp.3_Intron|PDZK1_uc001eoo.1_Frame_Shift_Del_p.A499fs|PDZK1_uc010oza.1_Frame_Shift_Del_p.A388fs	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	499					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity				0	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)			CGCACATGGCAAAAGAACGGG	0.438													-	145762320	A	-	145762320	7	5	193	1	0	1	0	1	0	0	0	0	11707	117	5	0	1523	0	PDZK1	1	145762320	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	25270598	145762320	103488301	102	105335											
BCL9	607	broad.mit.edu	37	chr1	147090982	147090982	+	Frame_Shift_Del	DEL	C	C	-													caccagtgtccagtggcgagCcccccacactgggagagaat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:147090981_147090981GC>G	uc001epq.3	+	7	1760	c.1020_1020GC>G	c.(1018-1020)gagfs	p.E340fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.E266fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	340	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)					CCAGTGGCGAGCCCCCCACAC	0.592			T	"IGH@, IGL@"	B-ALL								-	147090982	C	-	147090982	7	5	193	1	0	1	0	1	0	0	0	0	1381	739	26	0	1039	0	BCL9	1	147090982	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1328662	147090982	102159639	103	105336											
GJA5	2702	broad.mit.edu	37	chr1	147230513	147230513	+	Frame_Shift_Del	DEL	T	T	-													ttgctgaagggattgaagaaTtttcccccagggccattctc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:147230512_147230512AT>A	uc021ovl.1	-	0	835	c.835_835AT>T	c.(835-837)ttcfs	p.F279fs	GJA5_uc001eps.1_Frame_Shift_Del_p.F279fs|GJA5_uc001ept.1_Frame_Shift_Del_p.F279fs	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	279					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)			GGATTGAAGAATTTTCCCCCA	0.542													-	147230513	T	-	147230513	7	5	193	1	0	1	0	1	0	0	0	0	6404	1490	52	0	246	0	GJA5	1	147230513	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	139531	147230513	102020108	104	105337											
SV2A	9900	broad.mit.edu	37	chr1	149884981	149884981	+	Frame_Shift_Del	DEL	C	C	-													ttctttccgtcgttgtgcctCcccccggcccccagggggac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:149884981delC	uc001etg.2	-	2	903	c.412delG	c.(412-414)GAGfs	p.E138fs	SV2A_uc001eth.2_Frame_Shift_Del_p.E138fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	138	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	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)	CGTTGTGCCTCCCCCCGGCCC	0.632													-	149884981	C	-	149884981	7	5	193	1	0	1	0	1	0	0	0	0	15414	864	30	0	1864	0	SV2A	1	149884981	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	2654468	149884981	99365640	105	105338											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131589	150131589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcatcatcgaattggagCcaggcaaagagggtgctgca	15	8	1	1	rs148396210		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150131589C>T	uc001ett.2	+	6	1379	c.1101C>T	c.(1099-1101)AGC>AGT	p.S367S	PLEKHO1_uc001etr.2_Silent_p.S195S|PLEKHO1_uc001ets.2_Silent_p.S184S|PLEKHO1_uc001etu.2_Silent_p.S195S	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	367	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|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)			CGAATTGGAGCCAGGCAAAGA	0.627													T	150131589	C	T	150131589	2	4	193	1	0	0	0	0	0	0	0	1	12084	738	26	2		2	PLEKHO1	1	150131589	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	246608	150131589	99119032	106	105339											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150526845	150526846	+	Frame_Shift_Ins	INS	-	-	C													tacccctcaccgcagccctgINScccccctgagcagccagacc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150526845_150526846insC	uc001eux.2	+	7	1372_1373	c.1136_1137insC	c.(1135-1137)TGCfs	p.C379fs	ADAMTSL4_uc001euw.2_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Ins_p.C379fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	379					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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)			CCGCAGCCCTGCCCCCCTGAGC	0.639													C	150526846	-	C	150526845	7	5	193	1	0	1	1	0	0	0	0	0	277	1319	46	0	1154	0	ADAMTSL4	1	150526845	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	395256	150526845	98723776	107	105340	503	2									
ADAMTSL4	54507	broad.mit.edu	37	chr1	150526846	150526847	+	Frame_Shift_Ins	INS	-	-	C													acccctcaccgcagccctgcINSccccctgagcagccagaccc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150526845_150526846G>GC	uc009wlw.3	+	5	1294_1295	c.1136_1137G>GC	c.(1135-1137)tgcfs	p.C379fs	ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.C379fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.C379fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	379					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)			CCGCAGCCCTGCCCCCCTGAGC	0.639													C	150526847	-	C	150526846	7	5	193	1	0	1	1	0	0	0	0	0	277	747	26	0	1155	0	ADAMTSL4	1	150526846	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	150526846	98723775	108	105341	503	2									
ADAMTSL4	54507	broad.mit.edu	37	chr1	150528719	150528719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtgatgattctacctgtCgccttgtttcggggaacctc	13	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:150528719C>T	uc001eux.2	+	9	1689	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R485C|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R508C|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R508C|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	485					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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)			TTCTACCTGTCGCCTTGTTTC	0.612													T	150528719	C	T	150528719	3	4	193	1	0	0	0	0	1	0	0	0	277	884	31	1	1479	1	ADAMTSL4	1	150528719	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1873	150528719	98721902	109	105342											
PIP5K1A	8394	broad.mit.edu	37	chr1	151219440	151219440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagtcagagttcacccAtgtgagtatctgggatgtgt	13	7	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:151219440A>G	uc001exj.2	+	15	2137	c.1685A>G	c.(1684-1686)CAT>CGT	p.H562R	PIP5K1A_uc001exi.2_Missense_Mutation_p.H549R|PIP5K1A_uc010pcu.1_Missense_Mutation_p.H522R|PIP5K1A_uc001exk.2_Missense_Mutation_p.H500R|PIP5K1A_uc010pcv.1_Missense_Mutation_p.I227V	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	562					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	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;0.181)			GAGTTCACCCATGTGAGTATC	0.413													G	151219440	A	G	151219440	3	3	193	1	0	0	0	0	1	0	0	0	11939	231	8	3	1743	3	PIP5K1A	1	151219440	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	690721	151219440	98031181	110	105343											
POGZ	23126	broad.mit.edu	37	chr1	151380627	151380628	+	Frame_Shift_Del	DEL	AG	AG	-													agcaggtgctatagcgacacAgagagcagtgtacgtaagta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:151380627_151380628delAG	uc001eyd.1	-	15	2629_2630	c.2323_2324delCT	c.(2323-2325)CTGfs	p.L775fs	POGZ_uc001eye.1_Frame_Shift_Del_p.L722fs|POGZ_uc010pdb.1_Frame_Shift_Del_p.L766fs|POGZ_uc001eyf.1_Frame_Shift_Del_p.L731fs|POGZ_uc010pdc.1_Frame_Shift_Del_p.L713fs|POGZ_uc009wmv.1_Frame_Shift_Del_p.L680fs|POGZ_uc010pdd.1_Frame_Shift_Del_p.L266fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	775	C2H2-type 8.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	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)			ATAGCGACACAGAGAGCAGTGT	0.475													-	151380628	AG	-	151380627	7	5	193	1	0	1	0	1	0	0	0	0	12186	188	7	0	1928	0	POGZ	1	151380627	Frame_Shift_Del	DEL	AG	TCGA-CG-5726-01A-11D-1600-08	161187	151380627	97869994	111	105344											
TUFT1	7286	broad.mit.edu	37	chr1	151538676	151538676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatggctttagtcagagtcCcacagccctgtacagcagcc	9	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:151538676C>A	uc001eyl.2	+	6	514	c.452C>A	c.(451-453)CCC>CAC	p.P151H	TUFT1_uc001eym.2_Missense_Mutation_p.P126H|TUFT1_uc010pdf.1_Missense_Mutation_p.P170H|TUFT1_uc010pdg.1_Missense_Mutation_p.P99H	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	151					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	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)			AGTCAGAGTCCCACAGCCCTG	0.468													A	151538676	C	A	151538676	3	1	193	1	0	0	0	0	1	0	0	0	16769	623	22	5	474	5	TUFT1	1	151538676	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	158049	151538676	97711945	112	105345											
FLG	2312	broad.mit.edu	37	chr1	152286203	152286203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctgactgctggtggcCggatccatgtctttctcctg	12	12	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:152286203C>T	uc001ezu.1	-	3	1195	c.1159G>A	c.(1159-1161)GGC>AGC	p.G387S	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	387	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCCGGATCCATGT	0.582									Ichthyosis				T	152286203	C	T	152286203	3	4	193	1	0	0	0	0	1	0	0	0	5922	652	23	1	11030	1	FLG	1	152286203	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	747527	152286203	96964418	113	105346											
LCE1C	353133	broad.mit.edu	37	chr1	152777650	152777650	+	Frame_Shift_Del	DEL	C	C	-													ccccgccacagcagctggagCcccccgagggctggctgcag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:152777650delC	uc001fap.1	-	2	356	c.305delG	c.(304-306)GGCfs	p.G102fs		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	102	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCTGGAGCCCCCCGAGGG	0.667													-	152777650	C	-	152777650	7	5	193	1	0	1	0	1	0	0	0	0	8661	739	26	0	55	0	LCE1C	1	152777650	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	491447	152777650	96472971	114	105347											
S100A3	6274	broad.mit.edu	37	chr1	153520175	153520175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctactgggagcagggggGctctgaggggcagtccttga	19	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:153520175G>A	uc001fca.1	-	3	372	c.289C>T	c.(289-291)CCC>TCC	p.P97S	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	97							calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAGGGGGGCTCTGAGGGG	0.622													A	153520175	G	A	153520175	3	1	193	1	0	0	0	0	1	0	0	0	13779	1203	42	2	20	2	S100A3	1	153520175	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	742525	153520175	95730446	115	105348											
S100A16	140576	broad.mit.edu	37	chr1	153580513	153580513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttctggagcatctcgcGgaagctgctcttgctgatct	10	12	5	1	rs142272783		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:153580513G>A	uc001fcc.2	-	2	248	c.115C>T	c.(115-117)CGC>TGC	p.R39C	S100A16_uc001fcd.1_Missense_Mutation_p.R39C	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	39	EF-hand 1.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity				0	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)			AGCATCTCGCGGAAGCTGCTC	0.547													A	153580513	G	A	153580513	3	1	193	1	0	0	0	0	1	0	0	0	13777	1116	39	1	204	1	S100A16	1	153580513	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	60338	153580513	95670108	116	105349											
INTS3	65123	broad.mit.edu	37	chr1	153732081	153732081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagacaaggatagcattaTgaacataggtatgtgaccaa	9	7	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:153732081T>C	uc009wom.2	+	12	1450	c.1229T>C	c.(1228-1230)ATG>ACG	p.M410T	INTS3_uc001fct.2_Missense_Mutation_p.M410T|INTS3_uc001fcu.2_Missense_Mutation_p.M102T|INTS3_uc001fcv.2_Missense_Mutation_p.M204T|INTS3_uc010peb.1_Missense_Mutation_p.M204T|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	411					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	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)			GATAGCATTATGAACATAGGT	0.498													C	153732081	T	C	153732081	3	2	193	1	0	0	0	0	1	0	0	0	7779	1464	51	3	1271	3	INTS3	1	153732081	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	151568	153732081	95518540	117	105350											
ATP8B2	57198	broad.mit.edu	37	chr1	154302881	154302881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttgcagaagaagaaaGgagggcgcgggctaatgacc	15	6	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:154302881G>T	uc001fey.1	+	2	287	c.98G>T	c.(97-99)AGG>ATG	p.R33M	ATP8B2_uc001few.2_Missense_Mutation_p.R14M|ATP8B2_uc001fex.2_Missense_Mutation_p.R47M	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform b	33	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAGAAGAAAGGAGGGCGCGG	0.493													T	154302881	G	T	154302881	3	4	193	1	0	0	0	0	1	0	0	0	1195	1000	35	5	150	5	ATP8B2	1	154302881	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	570800	154302881	94947740	118	105351											
PBXIP1	57326	broad.mit.edu	37	chr1	154924376	154924376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccatcctggatgccgggcCcagtgtctccactggcaggc	13	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:154924376C>A	uc001ffr.2	-	3	132	c.73G>T	c.(73-75)GGC>TGC	p.G25C	PBXIP1_uc001ffs.2_5'UTR|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	25					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	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)			GATGCCGGGCCCAGTGTCTCC	0.597													A	154924376	C	A	154924376	3	1	193	1	0	0	0	0	1	0	0	0	11496	623	22	5	2158	5	PBXIP1	1	154924376	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	621495	154924376	94326245	119	105352											
GBA	2629	broad.mit.edu	37	chr1	155209427	155209427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcagagaagtacgatTtaagtagcaaattttgggca	9	6	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155209427T>C	uc001fjh.2	-	4	584	c.434A>G	c.(433-435)AAA>AGA	p.K145R	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.K145R|GBA_uc001fjj.2_Missense_Mutation_p.K145R|GBA_uc001fjk.2_Missense_Mutation_p.K145R|GBA_uc001fjl.2_Missense_Mutation_p.K145R|GBA_uc010pfy.1_Missense_Mutation_p.K58R|GBA_uc009wqk.1_Missense_Mutation_p.K58R	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	145					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			ovary(1)|skin(1)	2	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)	GAAGTACGATTTAAGTAGCAA	0.393									Gaucher_disease_type_I				C	155209427	T	C	155209427	3	2	193	1	0	0	0	0	1	0	0	0	6266	1841	64	3	1208	3	GBA	1	155209427	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	285051	155209427	94041194	120	105353											
FAM189B	10712	broad.mit.edu	37	chr1	155220390	155220390	+	Frame_Shift_Del	DEL	G	G	-													aataggagcgggcagcccgtGgggggcgccgtggcaggggg					rs74953707	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155220390delG	uc001fjm.2	-	9	1793	c.1187delC	c.(1186-1188)CCAfs	p.P396fs	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Frame_Shift_Del_p.P198fs|FAM189B_uc001fjn.2_Frame_Shift_Del_p.P300fs|FAM189B_uc001fjo.2_Frame_Shift_Del_p.P378fs|FAM189B_uc001fjp.2_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	396						integral to membrane	WW domain binding			ovary(1)|breast(1)	2						GGCAGCCCGTGGGGGGCGCCG	0.721													-	155220390	G	-	155220390	7	5	193	1	0	1	0	1	0	0	0	0	5517	1348	47	0	835	0	FAM189B	1	155220390	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	10963	155220390	94030231	121	105354											
CLK2	1196	broad.mit.edu	37	chr1	155233743	155233743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccgagcccagctcacccGcagcggtttgcagttctcac	9	17	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155233743G>A	uc001fjy.2	-	12	1605	c.1315C>T	c.(1315-1317)CGG>TGG	p.R439W	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R438W|CLK2_uc001fjx.2_Missense_Mutation_p.R211W|CLK2_uc009wqm.2_Missense_Mutation_p.R439W	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	439	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	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)			CAGCTCACCCGCAGCGGTTTG	0.532								Other_conserved_DNA_damage_response_genes					A	155233743	G	A	155233743	3	1	193	1	0	0	0	0	1	0	0	0	3537	1086	38	1	192	1	CLK2	1	155233743	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	13353	155233743	94016878	122	105355											
CLK2	1196	broad.mit.edu	37	chr1	155234303	155234303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtattcaaagatgatgcagcCtatactccacacatcacaag	6	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:155234303C>A	uc001fjy.2	-	10	1392	c.1102G>T	c.(1102-1104)GGC>TGC	p.G368C	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.G367C|CLK2_uc001fjx.2_Missense_Mutation_p.G140C|CLK2_uc009wqm.2_Missense_Mutation_p.G368C	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	368	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	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)			ATGATGCAGCCTATACTCCAC	0.498								Other_conserved_DNA_damage_response_genes					A	155234303	C	A	155234303	3	1	193	1	0	0	0	0	1	0	0	0	3537	681	24	5	413	5	CLK2	1	155234303	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	560	155234303	94016318	123	105356											
CCT3	7203	broad.mit.edu	37	chr1	156286984	156286984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgattattgtctgtcttcCggactctgcggatggctgtg	13	9	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:156286984C>A	uc001fol.1	-	10	1167	c.947G>T	c.(946-948)CGG>CTG	p.R316L	CCT3_uc001fom.1_Missense_Mutation_p.R315L|CCT3_uc001fon.1_Missense_Mutation_p.R278L|CCT3_uc010phj.1_Missense_Mutation_p.R270L|CCT3_uc010phk.1_Missense_Mutation_p.R270L|CCT3_uc010phl.1_Missense_Mutation_p.R270L	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	316					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GTCTGTCTTCCGGACTCTGCG	0.448													A	156286984	C	A	156286984	3	1	193	1	0	0	0	0	1	0	0	0	2954	652	23	5	710	5	CCT3	1	156286984	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1052681	156286984	92963637	124	105357											
MRPL24	79590	broad.mit.edu	37	chr1	156707482	156707482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcagctctgggaaattcgGgtttagggataattctccct	10	9	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:156707482G>T	uc001fpw.1	-	5	609	c.470C>A	c.(469-471)CCC>CAC	p.P157H	MRPL24_uc001fpx.1_Missense_Mutation_p.P157H	NM_024540	NP_078816	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24 precursor	157					translation	mitochondrion|ribosome	structural constituent of ribosome				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGAAATTCGGGTTTAGGGAT	0.542													T	156707482	G	T	156707482	3	4	193	1	0	0	0	0	1	0	0	0	9790	1232	43	5	188	5	MRPL24	1	156707482	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	420498	156707482	92543139	125	105358											
OR10X1	128367	broad.mit.edu	37	chr1	158549613	158549613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaacaagaatgaattccTtcaggattgtctggttgatc	9	8	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158549613T>C	uc010pin.1	-	1	77	c.77A>G	c.(76-78)AAG>AGG	p.K26R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	26	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AATGAATTCCTTCAGGATTGT	0.363													C	158549613	T	C	158549613	3	2	193	1	0	0	0	0	1	0	0	0	10922	1609	56	3	898	3	OR10X1	1	158549613	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1842131	158549613	90701008	126	105359											
SPTA1	6708	broad.mit.edu	37	chr1	158639307	158639307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactccttcagcaatctaCgtctagtggcagccttttca	7	12	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158639307C>T	uc001fst.1	-	14	1923	c.1724G>A	c.(1723-1725)CGT>CAT	p.R575H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	575	Spectrin 6.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAGCAATCTACGTCTAGTGGC	0.443													T	158639307	C	T	158639307	3	4	193	1	0	0	0	0	1	0	0	0	15115	536	19	1	5691	1	SPTA1	1	158639307	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	89694	158639307	90611314	127	105360											
SPTA1	6708	broad.mit.edu	37	chr1	158653211	158653211	+	Frame_Shift_Del	DEL	T	T	-													ggtaaatcgttcttcccttgTtttttccagttcagacatga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158653210_158653210GT>G	uc001fst.1	-	2	540	c.341_341AC>C	c.(340-342)acafs	p.T114fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	114					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.T114A(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)					TTCTTCCCTTGTTTTTTCCAG	0.383													-	158653211	T	-	158653211	7	5	193	1	0	1	0	1	0	0	0	0	15115	1725	60	0	7119	0	SPTA1	1	158653211	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	13904	158653211	90597410	128	105361											
PYHIN1	149628	broad.mit.edu	37	chr1	158911972	158911972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcaacttgaagaggaAattcattaaaaagagaatca	6	5	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:158911972A>G	uc001ftb.2	+	5	1030	c.785A>G	c.(784-786)AAA>AGA	p.K262R	PYHIN1_uc001ftc.2_Missense_Mutation_p.K253R|PYHIN1_uc001ftd.2_Missense_Mutation_p.K262R|PYHIN1_uc001fte.2_Missense_Mutation_p.K253R	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	262	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					TTGAAGAGGAAATTCATTAAA	0.368													G	158911972	A	G	158911972	3	3	193	1	0	0	0	0	1	0	0	0	12865	14	1	3	799	3	PYHIN1	1	158911972	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	258761	158911972	90338649	129	105362											
OR10J3	441911	broad.mit.edu	37	chr1	159284045	159284045	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggccctcttacccatgatGactgaataccttagggggtt	10	11	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:159284045G>T	uc010piu.1	-	1	405	c.405C>A	c.(403-405)GTC>GTA	p.V135V		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					TACCCATGATGACTGAATACC	0.507													T	159284045	G	T	159284045	2	4	193	1	0	0	0	0	0	0	0	1	10911	1277	45	5		5	OR10J3	1	159284045	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	372073	159284045	89966576	130	105363											
ITLN1	55600	broad.mit.edu	37	chr1	160851038	160851038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctccagtgctgcatgGgggacttattgggcacgtgc	14	9	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:160851038G>T	uc001fxc.2	-	5	586	c.470C>A	c.(469-471)CCC>CAC	p.P157H		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	157	Fibrinogen C-terminal.				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			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGCTGCATGGGGGACTTATT	0.572													T	160851038	G	T	160851038	3	4	193	1	0	0	0	0	1	0	0	0	7910	1232	43	5	487	5	ITLN1	1	160851038	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1566993	160851038	88399583	131	105364											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166670	161166670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcagtgaagcaaagcGctgtagagaaaaagggagag	13	6	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:161166670G>A	uc001fyt.3	-	2	1062	c.634C>T	c.(634-636)CGC>TGC	p.R212C	ADAMTS4_uc001fyu.2_Missense_Mutation_p.R212C|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	212					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAAGCAAAGCGCTGTAGAGAA	0.527													A	161166670	G	A	161166670	3	1	193	1	0	0	0	0	1	0	0	0	268	1101	38	1	1911	1	ADAMTS4	1	161166670	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	315632	161166670	88083951	132	105365											
FCRLB	127943	broad.mit.edu	37	chr1	161697204	161697204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagttcccggcgagcGgcgccccgactgcggggcca	17	16	0	0	rs145348831		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:161697204G>A	uc001gbh.2	+	8	1267	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	FCRLB_uc009wus.2_Missense_Mutation_p.G345S|FCRLB_uc001gbj.2_Silent_p.A296A|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.A289A|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.G345S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	345						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCCGGCGAGCGGCGCCCCGAC	0.677													A	161697204	G	A	161697204	3	1	193	1	0	0	0	0	1	0	0	0	5801	1116	39	1	1055	1	FCRLB	1	161697204	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	530534	161697204	87553417	133	105366											
TADA1	117143	broad.mit.edu	37	chr1	166827446	166827446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaggagtgcagcctgCtgctcagcatcatcaggggg	15	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:166827446C>T	uc001gdw.2	-	7	949	c.765G>A	c.(763-765)CAG>CAA	p.Q255Q	TADA1_uc001gdv.2_Silent_p.Q113Q	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	255					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						GTGCAGCCTGCTGCTCAGCAT	0.502													T	166827446	C	T	166827446	2	4	193	1	0	0	0	0	0	0	0	1	15506	796	28	2		2	TADA1	1	166827446	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5130242	166827446	82423175	134	105367											
GPA33	10223	broad.mit.edu	37	chr1	167038309	167038309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcattgttggatatgctgaCgcgattcttataaagctcac	9	8	2	1	rs139630164		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:167038309C>T	uc001gea.1	-	3	609	c.265G>A	c.(265-267)GTC>ATC	p.V89I		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	89	Ig-like V-type.|Extracellular (Potential).					integral to plasma membrane	receptor activity				0						GATATGCTGACGCGATTCTTA	0.493													T	167038309	C	T	167038309	3	4	193	1	0	0	0	0	1	0	0	0	6586	536	19	1	714	1	GPA33	1	167038309	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	210863	167038309	82212312	135	105368											
GPR161	23432	broad.mit.edu	37	chr1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-													ctcggcggcccccgaagccgCcccccgggacagtccgtgct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					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)					CCCCGAAGCCGCCCCCCGGGA	0.582													-	168054869	C	-	168054869	7	5	193	1	0	1	0	1	0	0	0	0	6665	739	26	0	103	0	GPR161	1	168054869	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1016560	168054869	81195752	136	105369											
F5	2153	broad.mit.edu	37	chr1	169498918	169498918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggacttcttttcatagtAccagctcttcttttcatcaa	5	11	6	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:169498918A>G	uc001ggg.1	-	16	5492	c.5347T>C	c.(5347-5349)TAC>CAC	p.Y1783H		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1783	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTCATAGTACCAGCTCTTC	0.373													G	169498918	A	G	169498918	3	3	193	1	0	0	0	0	1	0	0	0	5348	391	14	3	1367	3	F5	1	169498918	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1444049	169498918	79751703	137	105370											
SERPINC1	462	broad.mit.edu	37	chr1	173881070	173881070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggatttgttggcttttCgatagagtcggcagttcagt	14	5	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:173881070C>T	uc001gjt.2	-	3	610	c.491G>A	c.(490-492)CGA>CAA	p.R164Q		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	164					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTTGGCTTTTCGATAGAGTCG	0.398													T	173881070	C	T	173881070	3	4	193	1	0	0	0	0	1	0	0	0	14109	884	31	1	923	1	SERPINC1	1	173881070	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4382152	173881070	75369551	138	105371											
PAPPA2	60676	broad.mit.edu	37	chr1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-													tgttccccattgtgtgtaatCccccccagtgaccccgtgat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:176762723_176762723TC>T	uc001gkz.3	+	19	6212	c.5048_5048TC>T	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				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						TTGTGTGTAATCCCCCCCAGT	0.473													-	176762724	C	-	176762724	7	5	193	1	0	1	0	1	0	0	0	0	11433	845	30	0	5176	0	PAPPA2	1	176762724	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	2881654	176762724	72487897	139	105372											
FAM5B	57795	broad.mit.edu	37	chr1	177198951	177198951	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccagctccgagccctggaGgagcagcacggagcgggaga	16	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:177198951G>T	uc001glf.2	+	2	251	c.-61G>T	c.(-63--59)GAGGA>GATGA			NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B							extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GAGCCCTGGAGGAGCAGCACG	0.567													T	177198951	G	T	177198951	1	4	193	1	0	0	0	0	0	0	0	0	5593	1015	35	5		5	FAM5B	1	177198951	Translation_Start_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	436227	177198951	72051670	140	105373											
TOR3A	64222	broad.mit.edu	37	chr1	179063240	179063240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcagtaatctcaggggCgatataatcaatgaggtggt	11	6	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:179063240C>T	uc001gmd.2	+	5	983	c.831C>T	c.(829-831)GGC>GGT	p.G277G	TOR3A_uc010pnd.1_Silent_p.G61G	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A precursor	277					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1						ATCTCAGGGGCGATATAATCA	0.458													T	179063240	C	T	179063240	2	4	193	1	0	0	0	0	0	0	0	1	16373	755	27	1		1	TOR3A	1	179063240	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1864289	179063240	70187381	141	105374											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179852002	179852002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaggaaaccgaggaaaTgaagacgcgaaggactaccc	11	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:179852002T>C	uc001gnq.2	+	1	583	c.365T>C	c.(364-366)ATG>ACG	p.M122T	TOR1AIP1_uc001gnp.1_Missense_Mutation_p.M122T	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	122	Nuclear (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						ACCGAGGAAATGAAGACGCGA	0.597													C	179852002	T	C	179852002	3	2	193	1	0	0	0	0	1	0	0	0	16369	1464	51	3	367	3	TOR1AIP1	1	179852002	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	788762	179852002	69398619	142	105375											
CACNA1E	777	broad.mit.edu	37	chr1	181702035	181702035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcctcttcagcctcccGgagcaggtctgccagccagg	13	15	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:181702035G>A	uc001gow.2	+	20	2978	c.2813G>A	c.(2812-2814)CGG>CAG	p.R938Q	CACNA1E_uc009wxs.2_Missense_Mutation_p.R826Q|CACNA1E_uc001gox.1_Missense_Mutation_p.R164Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.R164Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	938	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCAGCCTCCCGGAGCAGGTCT	0.642													A	181702035	G	A	181702035	3	1	193	1	0	0	0	0	1	0	0	0	2542	1116	39	1	2891	1	CACNA1E	1	181702035	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1850033	181702035	67548586	143	105376											
ZNF648	127665	broad.mit.edu	37	chr1	182026619	182026619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtctacacttttgtgcGcacagagatactttccattg	8	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:182026619G>A	uc001goz.2	-	2	735	c.527C>T	c.(526-528)GCG>GTG	p.A176V		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTTTTGTGCGCACAGAGATA	0.567													A	182026619	G	A	182026619	3	1	193	1	0	0	0	0	1	0	0	0	18060	1087	38	1	1183	1	ZNF648	1	182026619	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	324584	182026619	67224002	144	105377											
RGS8	85397	broad.mit.edu	37	chr1	182638780	182638780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtggcatcagtaaggccGccatacaggcatcagcttac	11	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:182638780G>A	uc010pnw.1	-	3	263	c.5C>T	c.(4-6)GCG>GTG	p.A2V	RGS8_uc001gpn.1_Missense_Mutation_p.A2V|RGS8_uc001gpm.1_Intron	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 2	2					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						CAGTAAGGCCGCCATACAGGC	0.522													A	182638780	G	A	182638780	3	1	193	1	0	0	0	0	1	0	0	0	13312	1087	38	1	557	1	RGS8	1	182638780	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	612161	182638780	66611841	145	105378											
HMCN1	83872	broad.mit.edu	37	chr1	185986140	185986140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacatcttacttcattgTgatggttaataacttactgg	7	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:185986140T>C	uc001grq.1	+	33	5466	c.5237T>C	c.(5236-5238)GTG>GCG	p.V1746A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1746	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACTTCATTGTGATGGTTAAT	0.393													C	185986140	T	C	185986140	3	2	193	1	0	0	0	0	1	0	0	0	7220	1696	59	3	5367	3	HMCN1	1	185986140	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3347360	185986140	63264481	146	105379											
HMCN1	83872	broad.mit.edu	37	chr1	186083133	186083133	+	Frame_Shift_Del	DEL	C	C	-													cctccaaacataaaggggggCccccagagccttgtaattct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186083133delC	uc001grq.1	+	73	11383	c.11154delC	c.(11152-11154)GGCfs	p.G3718fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3718	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAAGGGGGGCCCCCAGAGCC	0.413													-	186083133	C	-	186083133	7	5	193	1	0	1	0	1	0	0	0	0	7220	726	26	0	11444	0	HMCN1	1	186083133	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	96993	186083133	63167488	147	105380											
HMCN1	83872	broad.mit.edu	37	chr1	186114659	186114659	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgggggaagagcttgtggGggaccagactcccagatcca	15	9	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186114659G>T	uc001grq.1	+	92	14620	c.14391G>T	c.(14389-14391)GGG>GGT	p.G4797G	HMCN1_uc001grs.1_Silent_p.G366G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4797	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAGCTTGTGGGGGACCAGACT	0.547													T	186114659	G	T	186114659	2	4	193	1	0	0	0	0	0	0	0	1	7220	1219	43	5		5	HMCN1	1	186114659	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	31526	186114659	63135962	148	105381											
TPR	7175	broad.mit.edu	37	chr1	186325512	186325512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaagctgcatttgatgCtgtcgtgatttgcggagttg	12	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186325512C>T	uc001grv.2	-	15	2091	c.1794G>A	c.(1792-1794)CAG>CAA	p.Q598Q		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	598	Potential.				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			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		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)		GCATTTGATGCTGTCGTGATT	0.428			T	NTRK1	papillary thyroid								T	186325512	C	T	186325512	2	4	193	1	0	0	0	0	0	0	0	1	16413	796	28	2		2	TPR	1	186325512	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	210853	186325512	62925109	149	105382											
PLA2G4A	5321	broad.mit.edu	37	chr1	186862228	186862228	+	Frame_Shift_Del	DEL	A	A	-													agacatttcaataatgacatAaaccctgtgtggaatgagac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:186862228delA	uc001gsc.2	+	4	406	c.201delA	c.(199-201)ATAfs	p.I67fs	PLA2G4A_uc010pos.1_Frame_Shift_Del_p.I67fs	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	67	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			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATAATGACATAAACCCTGTGT	0.378													-	186862228	A	-	186862228	7	5	193	1	0	1	0	1	0	0	0	0	12001	352	13	0	211	0	PLA2G4A	1	186862228	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	536716	186862228	62388393	150	105383											
LHX9	56956	broad.mit.edu	37	chr1	197889132	197889132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagcccggagaagcccGccctgtgcgccggctgcggg	16	17	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:197889132G>A	uc001guk.1	+	2	642	c.205G>A	c.(205-207)GCC>ACC	p.A69T	LHX9_uc001gui.1_Missense_Mutation_p.A60T|LHX9_uc001guj.1_Missense_Mutation_p.A75T	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	69	LIM zinc-binding 1.				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			ovary(1)	1						GGAGAAGCCCGCCCTGTGCGC	0.642													A	197889132	G	A	197889132	3	1	193	1	0	0	0	0	1	0	0	0	8777	1087	38	1	243	1	LHX9	1	197889132	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	11026904	197889132	51361489	151	105384											
ZNF281	23528	broad.mit.edu	37	chr1	200377574	200377574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgattcatttgttttaccGgtcttctgttccttattttc	6	9	3	0	rs149361792		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:200377574G>A	uc001gve.2	-	2	1367	c.1260C>T	c.(1258-1260)ACC>ACT	p.T420T	ZNF281_uc001gvf.1_Silent_p.T420T|ZNF281_uc001gvg.1_Silent_p.T384T	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	420					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			ovary(1)|breast(1)	2						TTGTTTTACCGGTCTTCTGTT	0.373													A	200377574	G	A	200377574	2	1	193	1	0	0	0	0	0	0	0	1	17815	1103	39	1		1	ZNF281	1	200377574	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2488442	200377574	48873047	152	105385											
NAV1	89796	broad.mit.edu	37	chr1	201750154	201750154	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctacgcacagactcAgagaagcgctcactggcaga	10	12	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:201750154A>C	uc001gwu.2	+	5	1727	c.1380A>C	c.(1378-1380)TCA>TCC	p.S460S	NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Silent_p.S69S|NAV1_uc001gwx.2_Silent_p.S69S|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	460					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GCACAGACTCAGAGAAGCGCT	0.463													C	201750154	A	C	201750154	2	2	193	1	0	0	0	0	0	0	0	1	10183	175	7	5		5	NAV1	1	201750154	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1372580	201750154	47500467	153	105386											
GPR37L1	9283	broad.mit.edu	37	chr1	202092489	202092489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacagtgcctatgccaTcatgcttctggcgctggtgg	11	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:202092489T>C	uc001gxj.2	+	1	461	c.398T>C	c.(397-399)ATC>ACC	p.I133T		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	133	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GCCTATGCCATCATGCTTCTG	0.582													C	202092489	T	C	202092489	3	2	193	1	0	0	0	0	1	0	0	0	6692	1435	50	3	400	3	GPR37L1	1	202092489	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	342335	202092489	47158132	154	105387											
PPFIA4	8497	broad.mit.edu	37	chr1	203044731	203044731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggtgtttcgccgcgcGccctcctggaggaagcgctt	14	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:203044731G>A	uc001gyz.2	+	16	2495	c.1902G>A	c.(1900-1902)GCG>GCA	p.A634A	PPFIA4_uc009xaj.2_Silent_p.A1265A|PPFIA4_uc010pqf.1_Silent_p.A847A|PPFIA4_uc001gza.2_Silent_p.A625A|PPFIA4_uc001gzb.1_Silent_p.A320A|PPFIA4_uc001gzc.1_Silent_p.A176A	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	634					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TTCGCCGCGCGCCCTCCTGGA	0.711													A	203044731	G	A	203044731	2	1	193	1	0	0	0	0	0	0	0	1	12312	1074	38	1		1	PPFIA4	1	203044731	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	952242	203044731	46205890	155	105388											
CNTN2	6900	broad.mit.edu	37	chr1	205039153	205039153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgccgcggggatgggcccGagagcctcactgcactcgtg	15	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:205039153G>A	uc001hbr.2	+	18	2664	c.2395G>A	c.(2395-2397)GAG>AAG	p.E799K	CNTN2_uc001hbq.1_Missense_Mutation_p.E690K|CNTN2_uc001hbs.2_Missense_Mutation_p.E587K	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	799	Fibronectin type-III 2.				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			ovary(1)	1	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)			GGATGGGCCCGAGAGCCTCAC	0.647													A	205039153	G	A	205039153	3	1	193	1	0	0	0	0	1	0	0	0	3641	1059	37	1	2461	1	CNTN2	1	205039153	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1994422	205039153	44211468	156	105389											
RCOR3	55758	broad.mit.edu	37	chr1	211469082	211469082	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtggaattgaagaatTcaaacctcctgaggtatgtt	12	5	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:211469082T>A	uc001hig.2	+	8	999	c.830T>A	c.(829-831)TTC>TAC	p.F277Y	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.F335Y|RCOR3_uc010psw.1_Missense_Mutation_p.F335Y|RCOR3_uc001hif.2_Missense_Mutation_p.F335Y	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATTGAAGAATTCAAACCTCCT	0.353													A	211469082	T	A	211469082	3	1	193	1	0	0	0	0	1	0	0	0	13184	1783	62	5	1038	5	RCOR3	1	211469082	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	6429929	211469082	37781539	157	105390											
NEK2	4751	broad.mit.edu	37	chr1	211842578	211842578	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctggctctcctaattgtcGccctcttctctcaagatttc	5	14	5	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:211842578G>T	uc001hir.1	-	6	1008	c.862C>A	c.(862-864)CGA>AGA	p.R288R	NEK2_uc001hiq.1_Silent_p.R288R|NEK2_uc001his.3_Silent_p.R288R|NEK2_uc001hit.1_RNA	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	288	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		CCTAATTGTCGCCCTCTTCTC	0.448													T	211842578	G	T	211842578	2	4	193	1	0	0	0	0	0	0	0	1	10324	1095	38	5		5	NEK2	1	211842578	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	373496	211842578	37408043	158	105391											
INTS7	25896	broad.mit.edu	37	chr1	212180670	212180670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatcaccattttggtggaCggataggatgtgaccagctg	12	8	1	1	rs150638626	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:212180670C>T	uc001hiw.1	-	6	783	c.678G>A	c.(676-678)CCG>CCA	p.P226P	INTS7_uc009xdb.1_Silent_p.P226P|INTS7_uc001hix.1_Silent_p.P102P|INTS7_uc001hiy.1_Silent_p.P226P|INTS7_uc010pta.1_Silent_p.P177P	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	226					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTTTGGTGGACGGATAGGATG	0.423													T	212180670	C	T	212180670	2	4	193	1	0	0	0	0	0	0	0	1	7783	523	19	1		1	INTS7	1	212180670	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	338092	212180670	37069951	159	105392											
PROX1	5629	broad.mit.edu	37	chr1	214170355	214170355	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatatggatcgcttatgtgaTgagcacctgagagcaaagcg	13	7	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:214170355T>A	uc001hkh.2	+	2	749	c.477T>A	c.(475-477)GAT>GAA	p.D159E	PROX1_uc001hkg.1_Missense_Mutation_p.D159E	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	159					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			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCTTATGTGATGAGCACCTGA	0.493													A	214170355	T	A	214170355	3	1	193	1	0	0	0	0	1	0	0	0	12560	1461	51	5	479	5	PROX1	1	214170355	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1989685	214170355	35080266	160	105393											
DISP1	84976	broad.mit.edu	37	chr1	223177115	223177115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcacagtaatctggggCgtgtccccagaagacaatgg	11	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:223177115C>T	uc001hnu.1	+	8	2523	c.2376C>T	c.(2374-2376)GGC>GGT	p.G792G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	792					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TAATCTGGGGCGTGTCCCCAG	0.473													T	223177115	C	T	223177115	2	4	193	1	0	0	0	0	0	0	0	1	4539	755	27	1		1	DISP1	1	223177115	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	9006760	223177115	26073506	161	105394											
TMEM63A	9725	broad.mit.edu	37	chr1	226054855	226054855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcccaaaactatacgGgtctttgtctgcagagaagc	9	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:226054855G>A	uc001hpm.1	-	8	773	c.523C>T	c.(523-525)CCG>TCG	p.P175S	TMEM63A_uc010pvi.1_Missense_Mutation_p.P175S	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	175						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AAACTATACGGGTCTTTGTCT	0.527													A	226054855	G	A	226054855	3	1	193	1	0	0	0	0	1	0	0	0	16187	1232	43	4	1968	4	TMEM63A	1	226054855	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2877740	226054855	23195766	162	105395											
CABC1	56997	broad.mit.edu	37	chr1	227152949	227152949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctctgggcagggccaaCgggaggctctttgcaaaccc	12	15	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:227152949C>T	uc001hqm.1	+	8	3845	c.426C>T	c.(424-426)AAC>AAT	p.N142N	CABC1_uc010pvp.1_Silent_p.N105N|CABC1_uc001hqn.1_Silent_p.N142N|CABC1_uc009xeq.1_Silent_p.N90N|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	142					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				GCAGGGCCAACGGGAGGCTCT	0.642													T	227152949	C	T	227152949	2	4	193	1	0	0	0	0	0	0	0	1	2527	535	19	1		1	CABC1	1	227152949	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1098094	227152949	22097672	163	105396											
PRSS38	339501	broad.mit.edu	37	chr1	228003897	228003897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgcaggcctccacgtctgCggcggctccatcctcaatga	10	16	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228003897C>T	uc001hrh.2	+	2	255	c.255C>T	c.(253-255)TGC>TGT	p.C85C		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						TCCACGTCTGCGGCGGCTCCA	0.672													T	228003897	C	T	228003897	2	4	193	1	0	0	0	0	0	0	0	1	12627	776	27	1		1	PRSS38	1	228003897	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	850948	228003897	21246724	164	105397											
PRSS38	339501	broad.mit.edu	37	chr1	228033279	228033279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcccgacatgctgtgtgCtggggacatcctgaatgcta	12	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228033279C>A	uc001hrh.2	+	4	692	c.692C>A	c.(691-693)GCT>GAT	p.A231D		NM_183062	NP_898885	A1L453	PRS38_HUMAN	marapsin 2 precursor	231	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|pancreas(1)	2						ATGCTGTGTGCTGGGGACATC	0.607													A	228033279	C	A	228033279	3	1	193	1	0	0	0	0	1	0	0	0	12627	797	28	5	706	5	PRSS38	1	228033279	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	29382	228033279	21217342	165	105398											
WNT9A	7483	broad.mit.edu	37	chr1	228109597	228109597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgtgcttcagatgcttGcccacctcatggaaaggcgc	10	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228109597G>A	uc001hri.2	-	4	808	c.720C>T	c.(718-720)GGC>GGT	p.G240G		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	240					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			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				TCAGATGCTTGCCCACCTCAT	0.642													A	228109597	G	A	228109597	2	1	193	1	0	0	0	0	0	0	0	1	17395	1306	46	2		2	WNT9A	1	228109597	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	76318	228109597	21141024	166	105399											
OBSCN	84033	broad.mit.edu	37	chr1	228466970	228466970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacctccatcccctcagtGcggccacctaagtggctcct	9	17	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228466970G>A	uc009xez.1	+	27	7265	c.7221G>A	c.(7219-7221)GTG>GTA	p.V2407V	OBSCN_uc001hsn.2_Silent_p.V2407V|OBSCN_uc001hsp.1_Silent_p.V106V|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2407					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCCCTCAGTGCGGCCACCTA	0.642													A	228466970	G	A	228466970	2	1	193	1	0	0	0	0	0	0	0	1	10812	1306	46	2		2	OBSCN	1	228466970	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	357373	228466970	20783651	167	105400											
OBSCN	84033	broad.mit.edu	37	chr1	228504492	228504492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcacctgcacgctcagCgaggcggtgcccgtgggaga	15	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228504492C>T	uc009xez.1	+	51	13412	c.13368C>T	c.(13366-13368)AGC>AGT	p.S4456S	OBSCN_uc001hsn.2_Silent_p.S4456S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4456	Ig-like 46.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCACGCTCAGCGAGGCGGTGC	0.677													T	228504492	C	T	228504492	2	4	193	1	0	0	0	0	0	0	0	1	10812	767	27	1		1	OBSCN	1	228504492	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	37522	228504492	20746129	168	105401											
OBSCN	84033	broad.mit.edu	37	chr1	228528927	228528927	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactcccgcaccgataccgtCagctacgtgttccggaacat	9	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228528927C>A	uc009xez.1	+	73	17873	c.17829C>A	c.(17827-17829)GTC>GTA	p.V5943V	OBSCN_uc001hsn.2_Silent_p.V5943V|OBSCN_uc001hsr.1_Silent_p.V572V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5943	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCGATACCGTCAGCTACGTGT	0.657													A	228528927	C	A	228528927	2	1	193	1	0	0	0	0	0	0	0	1	10812	813	29	5		5	OBSCN	1	228528927	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	24435	228528927	20721694	169	105402											
OBSCN	84033	broad.mit.edu	37	chr1	228550350	228550350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccccaaggcgccaggCccctccacaggggacctcac	12	19	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:228550350C>T	uc009xez.1	+	80	18779	c.18735C>T	c.(18733-18735)GGC>GGT	p.G6245G	OBSCN_uc001hsr.1_Silent_p.G874G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6245					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCGCCAGGCCCCTCCACAG	0.677													T	228550350	C	T	228550350	2	4	193	1	0	0	0	0	0	0	0	1	10812	726	26	2		2	OBSCN	1	228550350	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	21423	228550350	20700271	170	105403											
NUP133	55746	broad.mit.edu	37	chr1	229635518	229635518	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaccagcaaggcttggCcaatagcggatagatccttc	9	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:229635518C>T	uc001htn.2	-	5	653	c.561G>A	c.(559-561)TGG>TGA	p.W187*		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	187					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			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CAAGGCTTGGCCAATAGCGGA	0.448													T	229635518	C	T	229635518	4	4	193	1	0	0	0	0	0	1	0	0	10754	740	26	2	2997	2	NUP133	1	229635518	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1085168	229635518	19615103	171	105404											
ABCB10	23456	broad.mit.edu	37	chr1	229683388	229683388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttgtcaaagaaagcaAcctcctgcctcagaatggag	10	10	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:229683388A>G	uc001htp.3	-	3	822	c.779T>C	c.(778-780)GTT>GCT	p.V260A		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	260	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAAGAAAGCAACCTCCTGCCT	0.493													G	229683388	A	G	229683388	3	3	193	1	0	0	0	0	1	0	0	0	41	43	2	3	1481	3	ABCB10	1	229683388	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	47870	229683388	19567233	172	105405											
C1orf131	128061	broad.mit.edu	37	chr1	231374652	231374652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttctttttttattgctgTgaaattctaccacttctact	3	8	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:231374652T>C	uc001hun.1	-	2	438	c.401A>G	c.(400-402)CAC>CGC	p.H134R	C1orf131_uc001hul.2_Missense_Mutation_p.H134R|C1orf131_uc001hum.2_Missense_Mutation_p.H134R|C1orf131_uc010pwd.1_Missense_Mutation_p.H134R|C1orf131_uc001huo.1_Missense_Mutation_p.H134R|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc001hup.3_5'Flank|GNPAT_uc009xfp.2_5'Flank	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	134										central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTATTGCTGTGAAATTCTAC	0.438													C	231374652	T	C	231374652	3	2	193	1	0	0	0	0	1	0	0	0	1998	1696	59	3	504	3	C1orf131	1	231374652	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1691264	231374652	17875969	173	105406											
SIPA1L2	57568	broad.mit.edu	37	chr1	232626679	232626679	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagttggaagcctgtcGcaaacactgaatgctcagct	13	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:232626679G>A	uc001hvg.2	-	3	1905	c.1747C>T	c.(1747-1749)CGA>TGA	p.R583*		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	583					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGCCTGTCGCAAACACTGA	0.463													A	232626679	G	A	232626679	4	1	193	1	0	0	0	0	0	1	0	0	14330	1095	38	1	3497	1	SIPA1L2	1	232626679	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1252027	232626679	16623942	174	105407											
LYST	1130	broad.mit.edu	37	chr1	235887386	235887386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttagaaagatttctacaGcattatctctcaattgccac	5	9	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:235887386G>T	uc001hxj.2	-	39	9432	c.9257C>A	c.(9256-9258)GCT>GAT	p.A3086D	LYST_uc001hxi.2_Missense_Mutation_p.A310D	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3086					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GATTTCTACAGCATTATCTCT	0.368									Chediak-Higashi_syndrome				T	235887386	G	T	235887386	3	4	193	1	0	0	0	0	1	0	0	0	9128	971	34	5	2208	5	LYST	1	235887386	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3260707	235887386	13363235	175	105408											
NID1	4811	broad.mit.edu	37	chr1	236144978	236144978	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaagagcacccggcgctGcgtgccgtccagcttcgcca	11	17	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:236144978G>A	uc001hxo.2	-	16	3262	c.3160C>T	c.(3160-3162)CAG>TAG	p.Q1054*	NID1_uc009xgd.2_Nonsense_Mutation_p.Q921*|NID1_uc009xgc.2_Nonsense_Mutation_p.Q135*	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1054	LDL-receptor class B 2.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	ACCCGGCGCTGCGTGCCGTCC	0.507													A	236144978	G	A	236144978	4	1	193	1	0	0	0	0	0	1	0	0	10414	1328	46	2	603	2	NID1	1	236144978	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	257592	236144978	13105643	176	105409											
CEP170	9859	broad.mit.edu	37	chr1	243328300	243328301	+	Frame_Shift_Ins	INS	-	-	T													ctttttgttttcttttccatINStttttccctagcacctgaag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:243328299_243328300A>AT	uc021plo.1	-	12	3370_3371	c.2962_2963T>AT	c.(2962-2964)atgfs	p.M988fs	CEP170_uc021plp.1_Frame_Shift_Ins_p.M890fs|CEP170_uc021plq.1_Frame_Shift_Ins_p.M890fs|CEP170_uc001hzv.1_Frame_Shift_Ins_p.M366fs	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	988	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)			TTTCTTTTCCATTTTTTCCCTA	0.411													T	243328301	-	T	243328300	7	5	193	1	0	1	1	0	0	0	0	0	3250	1493	52	0	1854	0	CEP170	1	243328300	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	7183322	243328300	5922321	177	105410											
CEP170	9859	broad.mit.edu	37	chr1	243349251	243349251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtctgtgcccaagacTccctgaacttcttaataatg	8	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:243349251T>G	uc001hzs.2	-	10	1804	c.1396A>C	c.(1396-1398)AGT>CGT	p.S466R	CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	466						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			TGCCCAAGACTCCCTGAACTT	0.413													G	243349251	T	G	243349251	3	3	193	1	0	0	0	0	1	0	0	0	3250	1551	54	5	3432	5	CEP170	1	243349251	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	20951	243349251	5901370	178	105411											
ZNF124	7678	broad.mit.edu	37	chr1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-													gggcttttctccagtatgagTttttttatgcttccaaaggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:247319908_247319908GT>G	uc001ick.3	-	3	1155	c.1016_1016AC>C	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					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)			TCCAGTATGAGTTTTTTTATG	0.368													-	247319909	T	-	247319909	7	5	193	1	0	1	0	1	0	0	0	0	17717	1725	60	0	44	0	ZNF124	1	247319909	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	3970658	247319909	1930712	179	105412											
NLRP3	114548	broad.mit.edu	37	chr1	247588075	247588075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaccaccgcggtgtacGtcttcttcctttccagtttg	8	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:247588075G>A	uc001icr.2	+	5	1468	c.1330G>A	c.(1330-1332)GTC>ATC	p.V444I	NLRP3_uc001ics.2_Missense_Mutation_p.V444I|NLRP3_uc001icu.2_Missense_Mutation_p.V444I|NLRP3_uc001icw.2_Missense_Mutation_p.V444I|NLRP3_uc001icv.2_Missense_Mutation_p.V444I|NLRP3_uc010pyw.1_Missense_Mutation_p.V442I|NLRP3_uc001ict.1_Missense_Mutation_p.V442I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	444	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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			CGCGGTGTACGTCTTCTTCCT	0.612													A	247588075	G	A	247588075	3	1	193	1	0	0	0	0	1	0	0	0	10478	1145	40	1	1340	1	NLRP3	1	247588075	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	268166	247588075	1662546	180	105413											
TRIM58	25893	broad.mit.edu	37	chr1	248039478	248039478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagaatggggtctgggCcctgtggctgctgaaaggga	17	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248039478C>A	uc001ido.2	+	6	1196	c.1148C>A	c.(1147-1149)GCC>GAC	p.A383D	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	383	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGGTCTGGGCCCTGTGGCTG	0.552													A	248039478	C	A	248039478	3	1	193	1	0	0	0	0	1	0	0	0	16528	739	26	5	1170	5	TRIM58	1	248039478	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	451403	248039478	1211143	181	105414											
TRIM58	25893	broad.mit.edu	37	chr1	248039617	248039617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattctacaatgtcacagaTggatcttatatctacacatt	4	9	5	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248039617T>C	uc001ido.2	+	6	1335	c.1287T>C	c.(1285-1287)GAT>GAC	p.D429D	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	429	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGTCACAGATGGATCTTATA	0.443													C	248039617	T	C	248039617	2	2	193	1	0	0	0	0	0	0	0	1	16528	1461	51	3		3	TRIM58	1	248039617	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	139	248039617	1211004	182	105415											
OR2L8	391190	broad.mit.edu	37	chr1	248112583	248112583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaaaagagtgtgtgtgCtgatgataacagggtcttgg	15	4	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248112583C>T	uc001idt.1	+	1	424	c.424C>T	c.(424-426)CTG>TTG	p.L142L	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			AGTGTGTGTGCTGATGATAAC	0.443													T	248112583	C	T	248112583	2	4	193	1	0	0	0	0	0	0	0	1	11009	796	28	2		2	OR2L8	1	248112583	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	72966	248112583	1138038	183	105416											
OR2T4	127074	broad.mit.edu	37	chr1	248525058	248525059	+	Frame_Shift_Ins	INS	-	-	T													tccaaacatccagcactactINSttgtgtggtcatttttgtgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248525057_248525058C>CT	uc001ieh.1	+	0	175_176	c.175_176C>CT	c.(175-177)cttfs	p.L59fs		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	59					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)			TCCAGCACTACTTTGTGTGGTC	0.49													T	248525059	-	T	248525058	7	5	193	1	0	1	1	0	0	0	0	0	11027	1609	56	0	178	0	OR2T4	1	248525058	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	412475	248525058	725563	184	105417											
OR2T3	343173	broad.mit.edu	37	chr1	248637306	248637306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgcccccatcatggtcAtctccagctcatacaccctc	4	19	5	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr1:248637306A>G	uc001iel.1	+	1	655	c.655A>G	c.(655-657)ATC>GTC	p.I219V		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			CATCATGGTCATCTCCAGCTC	0.567													G	248637306	A	G	248637306	3	3	193	1	0	0	0	0	1	0	0	0	11023	217	8	3	657	3	OR2T3	1	248637306	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	112248	248637306	613315	185	105418											
SNTG2	54221	broad.mit.edu	37	chr2	1161257	1161257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgctgagaaatgctggCgatgaagttaccatcaccgt	10	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:1161257C>T	uc002qwq.2	+	7	563	c.435C>T	c.(433-435)GGC>GGT	p.G145G	SNTG2_uc010ewi.2_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	145	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	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)		GAAATGCTGGCGATGAAGTTA	0.443													T	1161257	C	T	1161257	2	4	193	1	0	0	0	0	0	0	0	1	14875	755	27	1		1	SNTG2	2	1161257	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08		1161257	242038116	186	105419											
PXDN	7837	broad.mit.edu	37	chr2	1658274	1658274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctccatttcgactgacgTcaggaactaggaaaatacaa	8	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:1658274T>C	uc002qxa.2	-	15	1908	c.1844A>G	c.(1843-1845)GAC>GGC	p.D615G	PXDN_uc002qxb.1_Missense_Mutation_p.D615G	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	615					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			pancreas(6)|ovary(2)	8	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)		TCGACTGACGTCAGGAACTAG	0.418													C	1658274	T	C	1658274	3	2	193	1	0	0	0	0	1	0	0	0	12847	1667	58	3	2631	3	PXDN	2	1658274	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	497017	1658274	241541099	187	105420											
SOX11	6664	broad.mit.edu	37	chr2	5833158	5833158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcccgttcatccgggaggCggagcggctgcggctcaagc	16	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:5833158C>T	uc002qyj.2	+	1	360	c.305C>T	c.(304-306)GCG>GTG	p.A102V		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	102	HMG box.				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(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ATCCGGGAGGCGGAGCGGCTG	0.627													T	5833158	C	T	5833158	3	4	193	1	0	0	0	0	1	0	0	0	14942	768	27	1	307	1	SOX11	2	5833158	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4174884	5833158	237366215	188	105421											
GRHL1	29841	broad.mit.edu	37	chr2	10130834	10130834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacctacagggagctgagcGgaaaatcagggatgaagaac	13	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:10130834G>A	uc002raa.2	+	10	1451	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.R238Q|GRHL1_uc010yjb.1_Missense_Mutation_p.R276Q	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	427					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGAGCTGAGCGGAAAATCAGG	0.423													A	10130834	G	A	10130834	3	1	193	1	0	0	0	0	1	0	0	0	6763	1116	39	1	1318	1	GRHL1	2	10130834	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4297676	10130834	233068539	189	105422											
C2orf50	130813	broad.mit.edu	37	chr2	11273484	11273484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagccaccccacccctggGctccagagaaccacatcagc	10	18	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:11273484G>A	uc010yji.1	+	1	306	c.24G>A	c.(22-24)GGG>GGA	p.G8G	uc002raz.1_5'Flank|uc002rba.1_5'Flank|C2orf50_uc010yjj.1_Silent_p.G8G	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	hypothetical protein LOC130813	8											0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCACCCCTGGGCTCCAGAGAA	0.642													A	11273484	G	A	11273484	2	1	193	1	0	0	0	0	0	0	0	1	2172	1190	42	2		2	C2orf50	2	11273484	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1142650	11273484	231925889	190	105423											
LPIN1	23175	broad.mit.edu	37	chr2	11944622	11944622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtaccaaggcacgtgccGctgtgagggcaccatctatc	12	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:11944622G>A	uc010yjn.1	+	16	2253	c.1979G>A	c.(1978-1980)CGC>CAC	p.R660H	LPIN1_uc010yjm.1_Missense_Mutation_p.R745H|LPIN1_uc002rbt.2_Missense_Mutation_p.R660H|LPIN1_uc010yjo.1_Missense_Mutation_p.R161H	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	660	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCACGTGCCGCTGTGAGGGC	0.473													A	11944622	G	A	11944622	3	1	193	1	0	0	0	0	1	0	0	0	8918	1087	38	1	2033	1	LPIN1	2	11944622	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	671138	11944622	231254751	191	105424											
SMC6	79677	broad.mit.edu	37	chr2	17884436	17884436	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacctttagttctttAtaatgtagttggcacctttt	5	6	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:17884436A>G	uc002rco.2	-	19	2426	c.2130T>C	c.(2128-2130)TAT>TAC	p.Y710Y	SMC6_uc010exo.2_Silent_p.Y710Y|SMC6_uc002rcn.2_Silent_p.Y710Y|SMC6_uc002rcp.1_Silent_p.Y736Y|SMC6_uc002rcq.2_Silent_p.Y736Y	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	710	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGTTCTTTATAATGTAGTT	0.289													G	17884436	A	G	17884436	2	3	193	1	0	0	0	0	0	0	0	1	14787	456	16	3		3	SMC6	2	17884436	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	5939814	17884436	225314937	192	105425											
APOB	338	broad.mit.edu	37	chr2	21230729	21230729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacagtgccatgcctttaGcagttagaacactgtggccc	9	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:21230729G>T	uc002red.2	-	26	9139	c.9011C>A	c.(9010-9012)GCT>GAT	p.A3004D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3004					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATGCCTTTAGCAGTTAGAAC	0.408													T	21230729	G	T	21230729	3	4	193	1	0	0	0	0	1	0	0	0	785	971	34	5	4696	5	APOB	2	21230729	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3346293	21230729	221968644	193	105426											
C2orf44	80304	broad.mit.edu	37	chr2	24262011	24262011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttgggtgccacacacaGccctggggaaggataggtag	14	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:24262011G>A	uc002rep.2	-	2	485	c.354C>T	c.(352-354)GGC>GGT	p.G118G	C2orf44_uc010eya.2_Silent_p.G118G	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	118							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACACACAGCCCTGGGGAA	0.498													A	24262011	G	A	24262011	2	1	193	1	0	0	0	0	0	0	0	1	2168	958	34	2		2	C2orf44	2	24262011	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3031282	24262011	218937362	194	105427											
CAD	790	broad.mit.edu	37	chr2	27460681	27460681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtggccgggtctgcagcCgggctgaagctttacctcaa	13	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:27460681C>T	uc002rji.2	+	29	4821	c.4659C>T	c.(4657-4659)GCC>GCT	p.A1553A	CAD_uc010eyw.2_Silent_p.A1490A	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1553	DHOase (dihydroorotase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTCTGCAGCCGGGCTGAAGC	0.627													T	27460681	C	T	27460681	2	4	193	1	0	0	0	0	0	0	0	1	2565	639	23	1		1	CAD	2	27460681	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3198670	27460681	215738692	195	105428											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500844	27500844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcactttggtgaagaaggCgtcagatactattttattct	9	6	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:27500844C>T	uc002rjl.1	+	4	754	c.336C>T	c.(334-336)GGC>GGT	p.G112G	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Silent_p.G112G	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	112					protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAAGGCGTCAGATACT	0.413													T	27500844	C	T	27500844	2	4	193	1	0	0	0	0	0	0	0	1	4652	755	27	1		1	DNAJC5G	2	27500844	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	40163	27500844	215698529	196	105429											
IFT172	26160	broad.mit.edu	37	chr2	27688651	27688651	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaatggctgttccaaactcGatgaggccctcatccaatgt	8	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:27688651G>A	uc002rku.2	-	17	1842	c.1791C>T	c.(1789-1791)ATC>ATT	p.I597I		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	597	TPR 1.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TTCCAAACTCGATGAGGCCCT	0.552													A	27688651	G	A	27688651	2	1	193	1	0	0	0	0	0	0	0	1	7557	1048	37	1		1	IFT172	2	27688651	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	187807	27688651	215510722	197	105430											
SPDYA	245711	broad.mit.edu	37	chr2	29063081	29063081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatatctggcaaagagaacGttctgttcatcacagtggag	10	7	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:29063081G>A	uc002rmj.2	+	7	802	c.596G>A	c.(595-597)CGT>CAT	p.R199H	SPDYA_uc002rmi.2_Missense_Mutation_p.R199H|SPDYA_uc002rmk.2_Missense_Mutation_p.R199H|SPDYA_uc002rml.2_Missense_Mutation_p.R199H	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	199	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAAAGAGAACGTTCTGTTCAT	0.393													A	29063081	G	A	29063081	3	1	193	1	0	0	0	0	1	0	0	0	15026	1145	40	1	614	1	SPDYA	2	29063081	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1374430	29063081	214136292	198	105431											
LTBP1	4052	broad.mit.edu	37	chr2	33487837	33487837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacttgagcctggtcaaCcccagctgtctccaggcatt	8	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:33487837C>T	uc002ros.2	+	14	2467	c.2467C>T	c.(2467-2469)CCC>TCC	p.P823S	LTBP1_uc002rot.2_Missense_Mutation_p.P497S|LTBP1_uc002rou.2_Missense_Mutation_p.P497S|LTBP1_uc002rov.2_Missense_Mutation_p.P444S|LTBP1_uc010ymz.1_Missense_Mutation_p.P497S|LTBP1_uc010yna.1_Missense_Mutation_p.P444S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	823					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCCTGGTCAACCCCAGCTGTC	0.383													T	33487837	C	T	33487837	3	4	193	1	0	0	0	0	1	0	0	0	9073	507	18	4	2576	4	LTBP1	2	33487837	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4424756	33487837	209711536	199	105432											
CRIM1	51232	broad.mit.edu	37	chr2	36749246	36749246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttccagatcaaccttttCggccttccttgtcccgcaat	5	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:36749246C>T	uc002rpd.2	+	13	2257	c.2218C>T	c.(2218-2220)CGG>TGG	p.R740W		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	740	Extracellular (Potential).				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			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCAACCTTTTCGGCCTTCCTT	0.448													T	36749246	C	T	36749246	3	4	193	1	0	0	0	0	1	0	0	0	3873	875	31	1	2268	1	CRIM1	2	36749246	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3261409	36749246	206450127	200	105433											
FAM82A1	151393	broad.mit.edu	37	chr2	38201322	38201323	+	Frame_Shift_Del	DEL	GA	GA	-													tgagtgagtctggcaagtcgGagagttttgaactacttcgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:38201322_38201323delGA	uc002rql.2	+	3	715_716	c.592_593delGA	c.(592-594)GAGfs	p.E198fs	FAM82A1_uc002rqn.1_Frame_Shift_Del_p.E376fs|FAM82A1_uc002rqk.1_Frame_Shift_Del_p.E53fs|FAM82A1_uc002rqm.2_Frame_Shift_Del_p.E53fs	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	family with sequence similarity 82, member A1	198						cytoplasm|integral to membrane|microtubule|spindle pole	binding			ovary(1)	1						TGGCAAGTCGGAGAGTTTTGAA	0.376													-	38201323	GA	-	38201322	7	5	193	1	0	1	0	1	0	0	0	0	5630	1175	41	0	1592	0	FAM82A1	2	38201322	Frame_Shift_Del	DEL	GA	TCGA-CG-5726-01A-11D-1600-08	1452076	38201322	204998051	201	105434											
ATL2	64225	broad.mit.edu	37	chr2	38545705	38545705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctagtcatagtgctcagaGcaaacaccgttgcacagtct	9	11	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:38545705G>T	uc002rqq.2	-	4	605	c.575C>A	c.(574-576)GCT>GAT	p.A192D	ATL2_uc010ynm.1_Missense_Mutation_p.A174D|ATL2_uc010ynn.1_Missense_Mutation_p.A174D|ATL2_uc010yno.1_Missense_Mutation_p.A21D|ATL2_uc002rqs.2_Missense_Mutation_p.A192D|ATL2_uc002rqr.2_Missense_Mutation_p.A21D	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	192	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						AGTGCTCAGAGCAAACACCGT	0.408													T	38545705	G	T	38545705	3	4	193	1	0	0	0	0	1	0	0	0	1107	971	34	5	1328	5	ATL2	2	38545705	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	344383	38545705	204653668	202	105435											
THADA	63892	broad.mit.edu	37	chr2	43787479	43787479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattagtgtttggaaacgaCcaacatcaatatcatgactc	6	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:43787479C>T	uc002rsw.3	-	16	2709	c.2357G>A	c.(2356-2358)GGT>GAT	p.G786D	THADA_uc010far.2_Missense_Mutation_p.G55D|THADA_uc002rsx.3_Missense_Mutation_p.G786D|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.G496D|THADA_uc010fat.1_Intron|THADA_uc002rta.2_Missense_Mutation_p.G496D|THADA_uc002rtb.1_Missense_Mutation_p.G786D|THADA_uc002rtc.3_Missense_Mutation_p.G786D	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	786							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTGGAAACGACCAACATCAAT	0.294													T	43787479	C	T	43787479	3	4	193	1	0	0	0	0	1	0	0	0	15837	507	18	4	3596	4	THADA	2	43787479	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5241774	43787479	199411894	203	105436											
SIX2	10736	broad.mit.edu	37	chr2	45235919	45235919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgggaatttgcggcgcaCgcggtatttgcccacggcgc	15	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:45235919C>T	uc002ruo.2	-	1	624	c.331G>A	c.(331-333)GTG>ATG	p.V111M	SIX2_uc002rup.2_Missense_Mutation_p.V111M	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	111						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGCGGCGCACGCGGTATTTG	0.657													T	45235919	C	T	45235919	3	4	193	1	0	0	0	0	1	0	0	0	14347	536	19	1	552	1	SIX2	2	45235919	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1448440	45235919	197963454	204	105437											
SRBD1	55133	broad.mit.edu	37	chr2	45832557	45832557	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatcctggacctgtactttCgctcttcttggcaatgatga	8	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:45832557C>T	uc002rus.2	-	2	100	c.24G>A	c.(22-24)GCG>GCA	p.A8A		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	8					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CCTGTACTTTCGCTCTTCTTG	0.353													T	45832557	C	T	45832557	2	4	193	1	0	0	0	0	0	0	0	1	15132	871	31	1		1	SRBD1	2	45832557	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	596638	45832557	197366816	205	105438											
FOXN2	3344	broad.mit.edu	37	chr2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-													tcctcttaaaacagcattgcAaaaaaagaggagttacggca					rs149269949		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:48602092delA	uc002rwh.1	+	7	1121	c.806delA	c.(805-807)CAAfs	p.Q269fs		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	269					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				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACAGCATTGCAAAAAAAGAGG	0.383													-	48602092	A	-	48602092	7	5	193	1	0	1	0	1	0	0	0	0	6020	130	5	0	824	0	FOXN2	2	48602092	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2769535	48602092	194597281	206	105439											
LHCGR	3973	broad.mit.edu	37	chr2	48941140	48941140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacagtgaagtcagtgtcGtcccattgaatgcatgactt	9	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:48941140G>A	uc002rwu.3	-	7	660	c.590C>T	c.(589-591)ACG>ATG	p.T197M	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	197	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		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)	AGTCAGTGTCGTCCCATTGAA	0.383									Familial_Male-Limited_Precocious_Puberty				A	48941140	G	A	48941140	3	1	193	1	0	0	0	0	1	0	0	0	8762	1145	40	1	1529	1	LHCGR	2	48941140	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	339048	48941140	194258233	207	105440											
FSHR	2492	broad.mit.edu	37	chr2	49217744	49217744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgaatcttgtgaacatctGgaaggtgcttaatacctgtg	10	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:49217744G>T	uc002rww.2	-	5	481	c.407C>A	c.(406-408)CCA>CAA	p.P136Q	FSHR_uc002rwx.2_Missense_Mutation_p.P136Q|FSHR_uc010fbn.2_Missense_Mutation_p.P136Q|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	136	Extracellular (Potential).|LRR 4.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	GTGAACATCTGGAAGGTGCTT	0.373									Gonadal_Dysgenesis_46_XX				T	49217744	G	T	49217744	3	4	193	1	0	0	0	0	1	0	0	0	6073	1348	47	5	1704	5	FSHR	2	49217744	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	276604	49217744	193981629	208	105441											
NRXN1	9378	broad.mit.edu	37	chr2	50573835	50573835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgcagacccaccgtgtcCgcctcgcaaggatgccggtg	12	16	0	1	rs138844263		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:50573835C>T	uc010fbp.2	-	1	1060	c.253G>A	c.(253-255)GGA>AGA	p.G85R	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	85	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACCGTGTCCGCCTCGCAAG	0.572													T	50573835	C	T	50573835	3	4	193	1	0	0	0	0	1	0	0	0	10665	661	23	1	1193	1	NRXN1	2	50573835	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1356091	50573835	192625538	209	105442											
GPR75	10936	broad.mit.edu	37	chr2	54080672	54080672	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcccttttcccatggctcGaagtcgagtcttttgtttgc	9	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:54080672G>A	uc002rxo.3	-	2	1493	c.1222C>T	c.(1222-1224)CGA>TGA	p.R408*	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	408	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCCATGGCTCGAAGTCGAGTC	0.448													A	54080672	G	A	54080672	4	1	193	1	0	0	0	0	0	1	0	0	6708	1066	37	1	404	1	GPR75	2	54080672	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3506837	54080672	189118701	210	105443											
CCDC104	112942	broad.mit.edu	37	chr2	55771388	55771388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaacagaagaacttcgGcaacgagaacactatctcaa	8	10	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:55771388G>A	uc002ryy.2	+	9	1008	c.810G>A	c.(808-810)CGG>CGA	p.R270R	CCDC104_uc002ryx.2_Silent_p.R295R	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	270										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGAACTTCGGCAACGAGAAC	0.388													A	55771388	G	A	55771388	2	1	193	1	0	0	0	0	0	0	0	1	2739	1190	42	2		2	CCDC104	2	55771388	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1690716	55771388	187427985	211	105444											
PNPT1	87178	broad.mit.edu	37	chr2	55870544	55870544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacgtttcttcatccacCtgactaatagttacaccttt	4	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:55870544C>T	uc002rzf.2	-	24	1976	c.1923G>A	c.(1921-1923)CAG>CAA	p.Q641Q	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	641	KH.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTCATCCACCTGACTAATAG	0.264													T	55870544	C	T	55870544	2	4	193	1	0	0	0	0	0	0	0	1	12173	680	24	4		4	PNPT1	2	55870544	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	99156	55870544	187328829	212	105445											
KIAA1841	84542	broad.mit.edu	37	chr2	61304055	61304055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtaacatttttatgaagGccaaacatggtgatccatgt	9	6	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:61304055G>A	uc002saw.3	+	6	735	c.432G>A	c.(430-432)GGG>GGA	p.G144G	KIAA1841_uc002sax.3_5'UTR|KIAA1841_uc002say.2_Silent_p.G144G|KIAA1841_uc002sav.3_Silent_p.G144G	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	144											0			Epithelial(17;0.193)			TTTTATGAAGGCCAAACATGG	0.333													A	61304055	G	A	61304055	2	1	193	1	0	0	0	0	0	0	0	1	8261	1217	42	2		2	KIAA1841	2	61304055	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5433511	61304055	181895318	213	105446											
USP34	9736	broad.mit.edu	37	chr2	61475795	61475795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtattgaaactcaaaatgCgaggcaatttcttaaaacat	6	6	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:61475795C>T	uc002sbe.2	-	49	6267	c.6245G>A	c.(6244-6246)CGC>CAC	p.R2082H	USP34_uc002sbf.2_Missense_Mutation_p.R232H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2082					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACTCAAAATGCGAGGCAATTT	0.308													T	61475795	C	T	61475795	3	4	193	1	0	0	0	0	1	0	0	0	17062	768	27	1	4523	1	USP34	2	61475795	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	171740	61475795	181723578	214	105447											
PELI1	57162	broad.mit.edu	37	chr2	64323400	64323401	+	Frame_Shift_Ins	INS	-	-	A													caagaacaccattagtggtcINSaagccatccatctgtccatc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:64323400_64323401insA	uc002scs.3	-	5	4587_4588	c.548_549insT	c.(547-549)TTGfs	p.L183fs	PELI1_uc002sct.3_Frame_Shift_Ins_p.L183fs|PELI1_uc002scr.3_Frame_Shift_Ins_p.L4fs	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	pellino protein	183					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				ovary(1)	1						CATTAGTGGTCAAGCCATCCAT	0.426													A	64323401	-	A	64323400	7	5	193	1	0	1	1	0	0	0	0	0	11721	825	29	0	715	0	PELI1	2	64323400	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	2847605	64323400	178875973	215	105448	504	2									
PELI1	57162	broad.mit.edu	37	chr2	64323401	64323402	+	Frame_Shift_Ins	INS	-	-	A													aagaacaccattagtggtcaINSagccatccatctgtccatct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:64323400_64323401C>CA	uc002scs.4	-	4	4587_4588	c.548_549G>TG	c.(547-549)ttgfs	p.L183fs	PELI1_uc002sct.4_Frame_Shift_Ins_p.L183fs|PELI1_uc002scr.4_Frame_Shift_Ins_p.L4fs	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	183					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CATTAGTGGTCAAGCCATCCAT	0.426													A	64323402	-	A	64323401	7	5	193	1	0	1	1	0	0	0	0	0	11721	131	5	0	716	0	PELI1	2	64323401	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	64323401	178875972	216	105449	504	2									
FBXO48	554251	broad.mit.edu	37	chr2	68691370	68691370	+	Frame_Shift_Del	DEL	C	C	-													cagttctgcttctagaatttCcccccatgtatctgcatcca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:68691370delC	uc002seo.2	-	4	847	c.439delG	c.(439-441)GAAfs	p.E147fs		NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	F-box protein 48	147											0						TCTAGAATTTCCCCCCATGTA	0.388													-	68691370	C	-	68691370	7	5	193	1	0	1	0	1	0	0	0	0	5757	864	30	0	32	0	FBXO48	2	68691370	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	4367969	68691370	174508003	217	105450											
ANTXR1	84168	broad.mit.edu	37	chr2	69472360	69472360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaattcttttctaggggCgctgcatcaacttcaccagg	8	13	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:69472360C>T	uc002sfg.2	+	18	1794	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	480	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						TTTCTAGGGGCGCTGCATCAA	0.468									Familial_Infantile_Hemangioma				T	69472360	C	T	69472360	3	4	193	1	0	0	0	0	1	0	0	0	711	768	27	1	1585	1	ANTXR1	2	69472360	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	780990	69472360	173727013	218	105451											
ANXA4	307	broad.mit.edu	37	chr2	70031679	70031679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggcaccgatgaagacGccattattagcgtccttgcc	9	15	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:70031679G>A	uc002sfr.3	+	4	339	c.112G>A	c.(112-114)GCC>ACC	p.A38T	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.A38T|ANXA4_uc010yqo.1_5'UTR	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	36	Annexin 1.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						CGATGAAGACGCCATTATTAG	0.552													A	70031679	G	A	70031679	3	1	193	1	0	0	0	0	1	0	0	0	720	1087	38	1	122	1	ANXA4	2	70031679	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	559319	70031679	173167694	219	105452											
FIGLA	344018	broad.mit.edu	37	chr2	71012593	71012593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtagacatcacactgTggcgacaagcgtgtgctggc	13	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:71012593T>C	uc002she.1	-	3	568	c.563A>G	c.(562-564)CAC>CGC	p.H188R		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	factor in the germline alpha	188					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding				0						CATCACACTGTGGCGACAAGC	0.448													C	71012593	T	C	71012593	3	2	193	1	0	0	0	0	1	0	0	0	5890	1696	59	3	108	3	FIGLA	2	71012593	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	980914	71012593	172186780	220	105453											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					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						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	193	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	178980	71191573	172007800	221	105454											
ALMS1	7840	broad.mit.edu	37	chr2	73827831	73827831	+	Frame_Shift_Del	DEL	A	A	-													tggagattgtgaacggtgccAaaaaacacactcgagatgtt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:73827831delA	uc002sje.1	+	20	11809	c.11698delA	c.(11698-11700)AAAfs	p.K3900fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.K3856fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.K3286fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3898					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAACGGTGCCAAAAAACACAC	0.448													-	73827831	A	-	73827831	7	5	193	1	0	1	0	1	0	0	0	0	535	131	5	0	11762	0	ALMS1	2	73827831	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2636258	73827831	169371542	222	105455											
NAT8	9027	broad.mit.edu	37	chr2	73868259	73868259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcactgtagccctggtccCgggcaaactggaggacagtc	12	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:73868259C>T	uc002sji.1	-	2	664	c.497G>A	c.(496-498)CGG>CAG	p.R166Q		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	166	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						GCCCTGGTCCCGGGCAAACTG	0.577													T	73868259	C	T	73868259	3	4	193	1	0	0	0	0	1	0	0	0	10179	652	23	1	190	1	NAT8	2	73868259	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	40428	73868259	169331114	223	105456											
DCTN1	1639	broad.mit.edu	37	chr2	74590160	74590160	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctactacgtgcgtgtgtgTgctcaattgattcaatgtct	10	8	4	1	rs72466493		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:74590160T>A	uc002skx.2	-	29	3801	c.3490A>T	c.(3490-3492)ACA>TCA	p.T1164S	SLC4A5_uc002skl.2_RNA|DCTN1_uc002skt.1_Missense_Mutation_p.T98S|DCTN1_uc002skv.2_Missense_Mutation_p.T1030S|DCTN1_uc002sku.2_Missense_Mutation_p.T1025S|DCTN1_uc002skw.1_Missense_Mutation_p.T1140S|DCTN1_uc010ffd.2_Missense_Mutation_p.T1139S|DCTN1_uc002sky.2_Missense_Mutation_p.T1122S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	1164					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TGCGTGTGTGTGCTCAATTGA	0.537													A	74590160	T	A	74590160	3	1	193	1	0	0	0	0	1	0	0	0	4306	1696	59	5	362	5	DCTN1	2	74590160	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	721901	74590160	168609213	224	105457											
HTRA2	27429	broad.mit.edu	37	chr2	74759794	74759794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctttcccgatgttcaGcatggtgtactcatccataa	7	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:74759794G>A	uc002smi.1	+	7	1766	c.1164G>A	c.(1162-1164)CAG>CAA	p.Q388Q	AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Intron|HTRA2_uc002smk.1_Intron|HTRA2_uc002sml.1_Intron|HTRA2_uc002smm.1_Silent_p.Q129Q|HTRA2_uc002smn.1_Silent_p.Q129Q	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	388	PDZ.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						CCGATGTTCAGCATGGTGTAC	0.532													A	74759794	G	A	74759794	2	1	193	1	0	0	0	0	0	0	0	1	7454	962	34	2		2	HTRA2	2	74759794	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	169634	74759794	168439579	225	105458											
HK2	3099	broad.mit.edu	37	chr2	75113685	75113685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggaaggagaagaggggCggatgtgtgtgaacatggaa	20	2	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:75113685C>T	uc002snd.2	+	15	4030	c.2104C>T	c.(2104-2106)CGG>TGG	p.R702W		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	702	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						AGAAGAGGGGCGGATGTGTGT	0.552													T	75113685	C	T	75113685	3	4	193	1	0	0	0	0	1	0	0	0	7191	759	27	1	2162	1	HK2	2	75113685	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	353891	75113685	168085688	226	105459											
CTNNA2	1496	broad.mit.edu	37	chr2	80831288	80831288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaatggacaaattagctcGtgctgtggctgatcaggtaa	12	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:80831288G>A	uc010ysh.1	+	15	2284	c.2279G>A	c.(2278-2280)CGT>CAT	p.R760H	CTNNA2_uc010yse.1_Missense_Mutation_p.R760H|CTNNA2_uc010ysf.1_Missense_Mutation_p.R760H|CTNNA2_uc010ysg.1_Missense_Mutation_p.R760H|CTNNA2_uc010ysi.1_Missense_Mutation_p.R392H|CTNNA2_uc010ysj.1_Missense_Mutation_p.R89H	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	760					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						AAATTAGCTCGTGCTGTGGCT	0.438													A	80831288	G	A	80831288	3	1	193	1	0	0	0	0	1	0	0	0	4013	1145	40	1	2129	1	CTNNA2	2	80831288	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5717603	80831288	162368085	227	105460											
TMEM150A	129303	broad.mit.edu	37	chr2	85827471	85827471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggtacaactcacccaTgaaagcacccatgttgccaa	7	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:85827471T>C	uc002spw.1	-	4	986	c.265A>G	c.(265-267)ATG>GTG	p.M89V	USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_Intron|TMEM150A_uc002spz.1_Intron|TMEM150A_uc002sqa.1_Missense_Mutation_p.M5V|TMEM150A_uc002spy.1_Missense_Mutation_p.M89V	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	transmembrane protein 150A isoform 1	89	Helical; (Potential).					integral to membrane|plasma membrane					0						AACTCACCCATGAAAGCACCC	0.602													C	85827471	T	C	85827471	3	2	193	1	0	0	0	0	1	0	0	0	16064	1464	51	3	566	3	TMEM150A	2	85827471	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	4996183	85827471	157371902	228	105461											
USP39	10713	broad.mit.edu	37	chr2	85852763	85852763	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacttacctgccgggtatTgtgggactgaataacataaa	9	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:85852763T>C	uc002sqe.2	+	5	708	c.672T>C	c.(670-672)ATT>ATC	p.I224I	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Silent_p.I146I|USP39_uc010ysv.1_Silent_p.I121I|USP39_uc010fgn.1_Silent_p.I224I|USP39_uc002sqf.2_Silent_p.I224I|USP39_uc002sqg.2_Silent_p.I224I|USP39_uc010fgo.2_Silent_p.I224I	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	224					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						TGCCGGGTATTGTGGGACTGA	0.453													C	85852763	T	C	85852763	2	2	193	1	0	0	0	0	0	0	0	1	17067	1800	63	3		3	USP39	2	85852763	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	25292	85852763	157346610	229	105462											
IMMT	10989	broad.mit.edu	37	chr2	86373208	86373208	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactctgaacagcctgttcgAttcctctgagtctggcatag	9	11	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:86373208A>C	uc002sqz.3	-	14	2034	c.1646T>G	c.(1645-1647)ATC>AGC	p.I549S	IMMT_uc002sqy.3_Missense_Mutation_p.I290S|IMMT_uc002srb.3_Missense_Mutation_p.I538S|IMMT_uc002sra.3_Missense_Mutation_p.I548S|IMMT_uc010ytd.1_Missense_Mutation_p.I537S|IMMT_uc010yte.1_Missense_Mutation_p.I502S|IMMT_uc002src.1_Missense_Mutation_p.I285S	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	549	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						AGCCTGTTCGATTCCTCTGAG	0.353													C	86373208	A	C	86373208	3	2	193	1	0	0	0	0	1	0	0	0	7718	333	12	5	638	5	IMMT	2	86373208	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	520445	86373208	156826165	230	105463											
KDM3A	55818	broad.mit.edu	37	chr2	86693713	86693713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggagtctgttccacaagCattgactggccttcctaagg	10	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:86693713C>T	uc002sri.3	+	10	1553	c.1226C>T	c.(1225-1227)GCA>GTA	p.A409V	KDM3A_uc010ytj.1_Missense_Mutation_p.A409V|KDM3A_uc010ytk.1_Missense_Mutation_p.A357V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	409					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			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTTCCACAAGCATTGACTGGC	0.453													T	86693713	C	T	86693713	3	4	193	1	0	0	0	0	1	0	0	0	8126	710	25	2	1260	2	KDM3A	2	86693713	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	320505	86693713	156505660	231	105464											
RMND5A	64795	broad.mit.edu	37	chr2	86992214	86992214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggaatttaagctacacAgactgtattttattagcttg	7	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:86992214A>G	uc010ytm.1	+	5	963	c.586A>G	c.(586-588)AGA>GGA	p.R196G	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.R196G	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	196	CTLH.									ovary(1)|skin(1)	2						TAAGCTACACAGACTGTATTT	0.363													G	86992214	A	G	86992214	3	3	193	1	0	0	0	0	1	0	0	0	13397	180	7	3	604	3	RMND5A	2	86992214	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	298501	86992214	156207159	232	105465											
ZNF514	84874	broad.mit.edu	37	chr2	95815928	95815928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacatcttgaatgtgttttTccactgatactacctggaat	7	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:95815928T>C	uc002sue.1	-	5	676	c.302A>G	c.(301-303)GAA>GGA	p.E101G	ZNF514_uc002sud.1_Missense_Mutation_p.E174G	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATGTGTTTTTCCACTGATAC	0.413													C	95815928	T	C	95815928	3	2	193	1	0	0	0	0	1	0	0	0	17956	1783	62	3	904	3	ZNF514	2	95815928	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	8823714	95815928	147383445	233	105466											
GPAT2	150763	broad.mit.edu	37	chr2	96697827	96697827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcgacccacaaaggggCgatacttccccaggaatgga	11	12	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:96697827C>T	uc002svf.2	-	3	354	c.131G>A	c.(130-132)CGC>CAC	p.R44H	GPAT2_uc002svg.2_5'UTR|GPAT2_uc010yuh.1_Missense_Mutation_p.R44H|GPAT2_uc002svh.2_Missense_Mutation_p.R44H	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	44					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						CACAAAGGGGCGATACTTCCC	0.597													T	96697827	C	T	96697827	3	4	193	1	0	0	0	0	1	0	0	0	6589	768	27	1	2336	1	GPAT2	2	96697827	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	881899	96697827	146501546	234	105467											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96992973	96992973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatctcattgaggcctgtCgggtgctcagccgccaagag	13	11	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:96992973C>T	uc002svx.2	+	3	939	c.604C>T	c.(604-606)CGG>TGG	p.R202W	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.R194W|ITPRIPL1_uc002svy.2_Missense_Mutation_p.R210W|ITPRIPL1_uc010yul.1_Missense_Mutation_p.R194W	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	202	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						TGAGGCCTGTCGGGTGCTCAG	0.532													T	96992973	C	T	96992973	3	4	193	1	0	0	0	0	1	0	0	0	7924	875	31	1	644	1	ITPRIPL1	2	96992973	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	295146	96992973	146206400	235	105468											
NCAPH	23397	broad.mit.edu	37	chr2	97007608	97007608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagcactgactcacctcGcttattggcctccccctcca	6	18	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:97007608G>A	uc002svz.1	+	2	332	c.248G>A	c.(247-249)CGC>CAC	p.R83H	NCAPH_uc010fhu.1_Missense_Mutation_p.R59H|NCAPH_uc010fhv.1_Missense_Mutation_p.R72H|NCAPH_uc010yum.1_Missense_Mutation_p.R59H|NCAPH_uc010fhw.1_Missense_Mutation_p.R72H|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	83					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				GACTCACCTCGCTTATTGGCC	0.587													A	97007608	G	A	97007608	3	1	193	1	0	0	0	0	1	0	0	0	10209	1087	38	1	254	1	NCAPH	2	97007608	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	14635	97007608	146191765	236	105469											
ANKRD36B	57730	broad.mit.edu	37	chr2	98201579	98201579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgcctcagttgtacaGcctgtcagtattagaccgag	9	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:98201579G>T	uc010yvc.1	-	3	558	c.278C>A	c.(277-279)GCT>GAT	p.A93D	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	93	ANK 3.										0						CAGTTGTACAGCCTGTCAGTA	0.428													T	98201579	G	T	98201579	3	4	193	1	0	0	0	0	1	0	0	0	666	985	34	5	3947	5	ANKRD36B	2	98201579	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1193971	98201579	144997794	237	105470											
EIF5B	9669	broad.mit.edu	37	chr2	100015270	100015271	+	Frame_Shift_Ins	INS	-	-	A													ataaacaagtggatgttgcaINSaaaaaaggacaagaagtttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100015269_100015270C>CA	uc002tab.3	+	22	3636_3637	c.3452_3453C>CA	c.(3451-3453)gcafs	p.A1151fs	EIF5B_uc010yvq.2_Frame_Shift_Ins_p.A133fs	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	1151					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						GTGGATGTTGCAAAAAAAGGAC	0.312													A	100015271	-	A	100015270	7	5	193	1	0	1	1	0	0	0	0	0	5044	117	5	0	3543	0	EIF5B	2	100015270	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1813691	100015270	143184103	238	105471											
REV1	51455	broad.mit.edu	37	chr2	100022521	100022521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtggcaagaaagtgcAagttctagaagcagatgata	12	4	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100022521A>G	uc002tad.2	-	17	2874	c.2662T>C	c.(2662-2664)TGC>CGC	p.C888R	REV1_uc002tac.2_Missense_Mutation_p.C887R	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	888					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						AAGAAAGTGCAAGTTCTAGAA	0.443								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	100022521	A	G	100022521	3	3	193	1	0	0	0	0	1	0	0	0	13239	130	5	3	1121	3	REV1	2	100022521	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	7251	100022521	143176852	239	105472											
REV1	51455	broad.mit.edu	37	chr2	100029342	100029342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttggagttttgccatggTcatatactgcaagtctccac	8	9	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100029342T>G	uc002tad.2	-	13	2235	c.2023A>C	c.(2023-2025)ACC>CCC	p.T675P	REV1_uc002tac.2_Missense_Mutation_p.T674P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	675					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						TTTGCCATGGTCATATACTGC	0.403								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	100029342	T	G	100029342	3	3	193	1	0	0	0	0	1	0	0	0	13239	1667	58	5	1776	5	REV1	2	100029342	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	6821	100029342	143170031	240	105473											
REV1	51455	broad.mit.edu	37	chr2	100038096	100038096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcatcacaactgacagCttcaatgttatgagtgtagc	8	10	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:100038096C>T	uc002tad.2	-	11	1908	c.1696G>A	c.(1696-1698)GCT>ACT	p.A566T	REV1_uc002tac.2_Missense_Mutation_p.A565T	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	566	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CAACTGACAGCTTCAATGTTA	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	100038096	C	T	100038096	3	4	193	1	0	0	0	0	1	0	0	0	13239	797	28	2	2111	2	REV1	2	100038096	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	8754	100038096	143161277	241	105474											
SLC9A4	389015	broad.mit.edu	37	chr2	103095325	103095325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctaccacaggctgccagGcctcatgccagaaagctgcc	9	17	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:103095325G>A	uc002tbz.3	+	2	741	c.284G>A	c.(283-285)GGC>GAC	p.G95D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	95	Helical; Name=C/M3; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						AGGCTGCCAGGCCTCATGCCA	0.587													A	103095325	G	A	103095325	3	1	193	1	0	0	0	0	1	0	0	0	14716	1203	42	2	290	2	SLC9A4	2	103095325	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3057229	103095325	140104048	242	105475											
SLC9A2	6549	broad.mit.edu	37	chr2	103322334	103322334	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctcccgatatttatcCttacctaaaaatacgaagct	3	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:103322334C>A	uc002tca.2	+	11	2149	c.2007C>A	c.(2005-2007)TCC>TCA	p.S669S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	669	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GATATTTATCCTTACCTAAAA	0.289													A	103322334	C	A	103322334	2	1	193	1	0	0	0	0	0	0	0	1	14712	668	24	5		5	SLC9A2	2	103322334	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	227009	103322334	139877039	243	105476											
SLC5A7	60482	broad.mit.edu	37	chr2	108625008	108625008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattgttctgcagtatctctGccctgtgtatatttctttct	6	9	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:108625008G>T	uc002tdv.2	+	8	1259	c.983G>T	c.(982-984)TGC>TTC	p.C328F	SLC5A7_uc010ywm.1_Missense_Mutation_p.C81F|SLC5A7_uc010fjj.2_Missense_Mutation_p.C328F|SLC5A7_uc010ywn.1_Missense_Mutation_p.C215F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	328	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	CAGTATCTCTGCCCTGTGTAT	0.443													T	108625008	G	T	108625008	3	4	193	1	0	0	0	0	1	0	0	0	14670	1319	46	5	1009	5	SLC5A7	2	108625008	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5302674	108625008	134574365	244	105477											
ZC3H6	376940	broad.mit.edu	37	chr2	113081979	113081979	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaattgtaggtcctcaaaatCaagctggagtgcttgttcaa	9	7	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:113081979C>T	uc002thq.1	+	10	1985	c.1591C>T	c.(1591-1593)CAA>TAA	p.Q531*		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	531	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TCCTCAAAATCAAGCTGGAGT	0.532													T	113081979	C	T	113081979	4	4	193	1	0	0	0	0	0	1	0	0	17568	827	29	4	1629	4	ZC3H6	2	113081979	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4456971	113081979	130117394	245	105478											
IL1RN	3557	broad.mit.edu	37	chr2	113877668	113877668	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgaagaaggaggtggAggaggaggagaaggtgaaga	20	0	0	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:113877668A>T	uc002tiz.2	+	2	162	c.36A>T	c.(34-36)GGA>GGT	p.G12G	IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Intron|IL1RN_uc002tja.2_Intron	NM_173841	NP_776213	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 2	Error:Variant_position_missing_in_P18510_after_alignment					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(2)	2					Anakinra(DB00026)	aAGGAGGTGGAGGAGGAGGAG	0.209									Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	113877668	A	T	113877668	2	4	193	1	0	0	0	0	0	0	0	1	7665	291	11	5		5	IL1RN	2	113877668	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	795689	113877668	129321705	246	105479											
ERCC3	2071	broad.mit.edu	37	chr2	128015230	128015230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgggcgccttgctccgcGatgagtggtactccatgtac	13	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:128015230G>A	uc002toh.1	-	15	2386	c.2291C>T	c.(2290-2292)TCG>TTG	p.S764L	ERCC3_uc002toe.1_Missense_Mutation_p.S519L|ERCC3_uc002tof.1_Missense_Mutation_p.S700L|ERCC3_uc002tog.1_Missense_Mutation_p.S700L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	764					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			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTGCTCCGCGATGAGTGGTA	0.582			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	128015230	G	A	128015230	3	1	193	1	0	0	0	0	1	0	0	0	5214	1059	37	1	61	1	ERCC3	2	128015230	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	14137562	128015230	115184143	247	105480											
MAP3K2	10746	broad.mit.edu	37	chr2	128096511	128096511	+	Frame_Shift_Del	DEL	T	T	-													cttattaaaataaatacctgTttttttggtgatgaagattt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:128096511delT	uc002toj.1	-	2	185	c.120delA	c.(118-120)AAAfs	p.K40fs	MAP3K2_uc010flz.1_Frame_Shift_Del_p.K40fs	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	40					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TAAATACCTGTTTTTTTGGTG	0.333													-	128096511	T	-	128096511	7	5	193	1	0	1	0	1	0	0	0	0	9250	1722	60	0	1799	0	MAP3K2	2	128096511	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	81281	128096511	115102862	248	105481											
TUBA3E	112714	broad.mit.edu	37	chr2	130951418	130951418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttggtcttgatggtggCgatggccgcattgacgtctt	15	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:130951418C>T	uc002tqv.2	-	4	1098	c.997G>A	c.(997-999)GCC>ACC	p.A333T		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	333					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					TTGATGGTGGCGATGGCCGCA	0.547													T	130951418	C	T	130951418	3	4	193	1	0	0	0	0	1	0	0	0	16745	768	27	1	363	1	TUBA3E	2	130951418	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2854907	130951418	112247955	249	105482											
ARHGEF4	50649	broad.mit.edu	37	chr2	131798826	131798826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgacttccagatctactcGgagtactgcaataaccaccc	7	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:131798826G>A	uc002tsa.1	+	9	1648	c.1128G>A	c.(1126-1128)TCG>TCA	p.S376S	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.S376S|ARHGEF4_uc010fmx.1_Silent_p.S316S|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	376	DH.				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			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGATCTACTCGGAGTACTGCA	0.592													A	131798826	G	A	131798826	2	1	193	1	0	0	0	0	0	0	0	1	908	1103	39	1		1	ARHGEF4	2	131798826	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	847408	131798826	111400547	250	105483											
ARHGEF4	50649	broad.mit.edu	37	chr2	131803637	131803637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccctgctacctgacgCgccagaagcacccagccctg	11	19	0	2	rs61758709	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:131803637C>T	uc002tsa.1	+	14	2468	c.1948C>T	c.(1948-1950)CGC>TGC	p.R650C	ARHGEF4_uc010fmw.1_Missense_Mutation_p.R798C|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Missense_Mutation_p.R590C|ARHGEF4_uc002tsc.1_Missense_Mutation_p.R193C	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	650					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			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTACCTGACGCGCCAGAAGCA	0.667													T	131803637	C	T	131803637	3	4	193	1	0	0	0	0	1	0	0	0	908	768	27	1	2086	1	ARHGEF4	2	131803637	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4811	131803637	111395736	251	105484											
MGAT5	4249	broad.mit.edu	37	chr2	135107386	135107386	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttcaggtgcatgctcCgagtccttgattcatttggt	9	9	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:135107386C>T	uc002ttv.1	+	9	1268	c.1123C>T	c.(1123-1125)CGA>TGA	p.R375*		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	375	Lumenal (Potential).				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			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTGCATGCTCCGAGTCCTTGA	0.423													T	135107386	C	T	135107386	4	4	193	1	0	0	0	0	0	1	0	0	9548	644	23	1	1157	1	MGAT5	2	135107386	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3303749	135107386	108091987	252	105485											
LCT	3938	broad.mit.edu	37	chr2	136546022	136546022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacaagagaaaagagaaCgtacaaagctgtctgtgctt	10	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:136546022C>T	uc002tuu.1	-	17	5667	c.5656G>A	c.(5656-5658)GTT>ATT	p.V1886I		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1886	Helical; (Potential).				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAAAGAGAACGTACAAAGCT	0.517													T	136546022	C	T	136546022	3	4	193	1	0	0	0	0	1	0	0	0	8693	536	19	1	131	1	LCT	2	136546022	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1438636	136546022	106653351	253	105486											
LRP1B	53353	broad.mit.edu	37	chr2	140990876	140990876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatataattttgcatataccGgattggagtaatttgttggc	9	4	0	0	rs151022058		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:140990876G>A	uc002tvj.1	-	91	14651	c.13679C>T	c.(13678-13680)CCG>CTG	p.P4560L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4560	Endocytosis signal (Potential).|Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TGCATATACCGGATTGGAGTA	0.333										TSP Lung(27;0.18)			A	140990876	G	A	140990876	3	1	193	1	0	0	0	0	1	0	0	0	8955	1116	39	1	124	1	LRP1B	2	140990876	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4444854	140990876	102208497	254	105487											
LRP1B	53353	broad.mit.edu	37	chr2	141806673	141806673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagtctaaagcacgaggGtttaccagattttctatggg	11	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:141806673G>T	uc002tvj.1	-	11	2643	c.1671C>A	c.(1669-1671)AAC>AAA	p.N557K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	557	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		AAGCACGAGGGTTTACCAGAT	0.438										TSP Lung(27;0.18)			T	141806673	G	T	141806673	3	4	193	1	0	0	0	0	1	0	0	0	8955	1252	44	5	12452	5	LRP1B	2	141806673	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	815797	141806673	101392700	255	105488											
MBD5	55777	broad.mit.edu	37	chr2	149226053	149226053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaatgccatgggaaggCtatatgtacaagaactgcct	9	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:149226053C>T	uc002twm.3	+	9	1529	c.541C>T	c.(541-543)CTA>TTA	p.L181L	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.L181L|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	181						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CATGGGAAGGCTATATGTACA	0.413													T	149226053	C	T	149226053	2	4	193	1	0	0	0	0	0	0	0	1	9347	796	28	2		2	MBD5	2	149226053	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	7419380	149226053	93973320	256	105489											
KIF5C	3800	broad.mit.edu	37	chr2	149861973	149861973	+	Frame_Shift_Del	DEL	A	A	-													aggatctgaccacccgagttAaaaaagtgagttctctttgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:149861973delA	uc010zbu.1	+	22	2808	c.2440delA	c.(2440-2442)AAAfs	p.K814fs	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Frame_Shift_Del_p.K96fs	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	814					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CACCCGAGTTAAAAAAGTGAG	0.423													-	149861973	A	-	149861973	7	5	193	1	0	1	0	1	0	0	0	0	8307	363	13	0	2448	0	KIF5C	2	149861973	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	635920	149861973	93337400	257	105490											
RIF1	55183	broad.mit.edu	37	chr2	152319553	152319553	+	Frame_Shift_Del	DEL	A	A	-													aacagtaataatgatgaaagAaaaaaagctttaatttcatc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:152319553delA	uc002txm.2	+	30	3649	c.3519delA	c.(3517-3519)AGAfs	p.R1173fs	RIF1_uc002txl.2_Frame_Shift_Del_p.R1173fs|RIF1_uc002txn.2_Frame_Shift_Del_p.R1173fs|RIF1_uc002txo.2_Frame_Shift_Del_p.R1173fs|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1173					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATGAAAGAAAAAAAGCTT	0.353													-	152319553	A	-	152319553	7	5	193	1	0	1	0	1	0	0	0	0	13359	243	9	0	3633	0	RIF1	2	152319553	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2457580	152319553	90879820	258	105491											
KCNJ3	3760	broad.mit.edu	37	chr2	155566208	155566208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaactttttcttgtgTcccccctcacaatttgccac	4	15	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:155566208T>C	uc002tyv.1	+	2	991	c.796T>C	c.(796-798)TCC>CCC	p.S266P	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	266	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TTTTCTTGTGTCCCCCCTCAC	0.488													C	155566208	T	C	155566208	3	2	193	1	0	0	0	0	1	0	0	0	8052	1667	58	3	802	3	KCNJ3	2	155566208	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3246655	155566208	87633165	259	105492											
CCDC148	130940	broad.mit.edu	37	chr2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-													tgttttttcttggcccagtaTttttttatctattgtataaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:159077216_159077216AT>A	uc002tzq.3	-	10	1575	c.1261_1261AT>T	c.(1261-1263)tacfs	p.Y421fs	CCDC148_uc002tzr.3_Frame_Shift_Del_p.Y269fs|CCDC148_uc010foh.3_Frame_Shift_Del_p.Y134fs|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	421	Glu/Lys-rich.							p.K420fs*15(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTGGCCCAGTATTTTTTTATC	0.318													-	159077217	T	-	159077217	7	5	193	1	0	1	0	1	0	0	0	0	2782	1490	52	0	531	0	CCDC148	2	159077217	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	3511009	159077217	84122156	260	105493											
PKP4	8502	broad.mit.edu	37	chr2	159481795	159481795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaggtggggtcgtcgTcccccaaacgctcagggatg	15	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:159481795T>C	uc002tzv.2	+	7	1269	c.1009T>C	c.(1009-1011)TCC>CCC	p.S337P	PKP4_uc002tzt.1_Missense_Mutation_p.S189P|PKP4_uc002tzu.2_Missense_Mutation_p.S337P|PKP4_uc002tzw.2_Missense_Mutation_p.S337P|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.S335P|PKP4_uc002uaa.2_Missense_Mutation_p.S189P	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	337					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						GGGGTCGTCGTCCCCCAAACG	0.587										HNSCC(62;0.18)			C	159481795	T	C	159481795	3	2	193	1	0	0	0	0	1	0	0	0	11987	1667	58	3	1031	3	PKP4	2	159481795	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	404578	159481795	83717578	261	105494											
BAZ2B	29994	broad.mit.edu	37	chr2	160181408	160181408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaacaagtttcaagttTacaggaagtagaaaaggcca	10	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:160181408T>C	uc002uao.2	-	36	6619	c.6267A>G	c.(6265-6267)GTA>GTG	p.V2089V	BAZ2B_uc002uap.2_Silent_p.V2053V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2089	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GTTTCAAGTTTACAGGAAGTA	0.323													C	160181408	T	C	160181408	2	2	193	1	0	0	0	0	0	0	0	1	1332	1741	61	3		3	BAZ2B	2	160181408	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	699613	160181408	83017965	262	105495											
RBMS1	5937	broad.mit.edu	37	chr2	161223762	161223762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggtcctggtcggtggtGtggggaggcagtcctcggat	18	9	0	0	rs147917487	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:161223762G>A	uc002ubo.2	-	2	660	c.216C>T	c.(214-216)CAC>CAT	p.H72H	RBMS1_uc002ubj.2_Silent_p.H39H|RBMS1_uc002ubk.2_Silent_p.H39H|RBMS1_uc002ubl.2_Silent_p.H70H|RBMS1_uc002ubn.2_Silent_p.H72H|RBMS1_uc002ubi.3_Silent_p.H72H|RBMS1_uc002ubm.2_Silent_p.H39H|RBMS1_uc002ubp.2_Silent_p.H72H|RBMS1_uc010fox.2_Silent_p.H72H	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	72	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						GGTCGGTGGTGTGGGGAGGCA	0.353													A	161223762	G	A	161223762	2	1	193	1	0	0	0	0	0	0	0	1	13148	1368	48	4		4	RBMS1	2	161223762	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1042354	161223762	81975611	263	105496											
GRB14	2888	broad.mit.edu	37	chr2	165353779	165353779	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgtgagtgcccaggcgTaaacatccttttttctgagc	9	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:165353779T>C	uc002ucl.2	-	11	1777	c.1236A>G	c.(1234-1236)TTA>TTG	p.L412L	GRB14_uc010zcv.1_Silent_p.L325L|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	412					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						TGCCCAGGCGTAAACATCCTT	0.423													C	165353779	T	C	165353779	2	2	193	1	0	0	0	0	0	0	0	1	6757	1635	57	3		3	GRB14	2	165353779	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	4130017	165353779	77845594	264	105497											
SCN3A	6328	broad.mit.edu	37	chr2	165997164	165997165	+	Frame_Shift_Ins	INS	-	-	G													ggtcatctattatcacctctINSgggggaagttgtccagtagg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:165997164_165997165insG	uc002ucx.2	-	13	2507_2508	c.2015_2016insC	c.(2014-2016)CCAfs	p.P672fs	SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTATCACCTCTGGGGGAAGTTG	0.475													G	165997165	-	G	165997164	7	5	193	1	0	1	1	0	0	0	0	0	13918	1567	55	0	4050	0	SCN3A	2	165997164	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	643385	165997164	77202209	265	105498	505	2									
SCN3A	6328	broad.mit.edu	37	chr2	165997165	165997166	+	Frame_Shift_Ins	INS	-	-	G													gtcatctattatcacctctgINSggggaagttgtccagtaggt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:165997164_165997165T>TG	uc002ucx.3	-	12	2507_2508	c.2015_2016A>CA	c.(2014-2016)ccafs	p.P672fs	SCN3A_uc002ucy.3_Intron|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P671P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTATCACCTCTGGGGGAAGTTG	0.475													G	165997166	-	G	165997165	7	5	193	1	0	1	1	0	0	0	0	0	13918	1348	47	0	4051	0	SCN3A	2	165997165	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	165997165	77202208	266	105499	505	2									
SCN9A	6335	broad.mit.edu	37	chr2	167055359	167055359	+	Frame_Shift_Del	DEL	T	T	-													acattatcaaaagccatatcTtttttattgagtaaatcatc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:167055359delT	uc010fpl.2	-	27	6098	c.5757delA	c.(5755-5757)AAAfs	p.K1919fs	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1930						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAGCCATATCTTTTTTATTGA	0.348													-	167055359	T	-	167055359	7	5	193	1	0	1	0	1	0	0	0	0	13925	1606	56	0	180	0	SCN9A	2	167055359	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1058194	167055359	76144014	267	105500											
XIRP2	129446	broad.mit.edu	37	chr2	168098309	168098309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatacacctgaggatgaAgagattccaaaggtttcgac	10	7	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:168098309A>G	uc002udx.2	+	7	1083	c.1065A>G	c.(1063-1065)GAA>GAG	p.E355E	XIRP2_uc010fpn.2_Silent_p.E388E|XIRP2_uc010fpo.2_Silent_p.E355E|XIRP2_uc010fpp.2_Silent_p.E355E|XIRP2_uc002udy.2_Silent_p.E180E|XIRP2_uc010fpq.2_Silent_p.E133E|XIRP2_uc010fpr.2_Silent_p.E133E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	180					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTGAGGATGAAGAGATTCCAA	0.333													G	168098309	A	G	168098309	2	3	193	1	0	0	0	0	0	0	0	1	17427	69	3	3		3	XIRP2	2	168098309	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1042950	168098309	75101064	268	105501											
XIRP2	129446	broad.mit.edu	37	chr2	168106521	168106521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaattttcagcaaacacaAatacagaccgctgaaagtaa	6	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:168106521A>G	uc002udx.2	+	8	8637	c.8619A>G	c.(8617-8619)CAA>CAG	p.Q2873Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q2698Q|XIRP2_uc010fpq.2_Silent_p.Q2651Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.Q219Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2698					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGCAAACACAAATACAGACCG	0.393													G	168106521	A	G	168106521	2	3	193	1	0	0	0	0	0	0	0	1	17427	11	1	3		3	XIRP2	2	168106521	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	8212	168106521	75092852	269	105502											
LRP2	4036	broad.mit.edu	37	chr2	170097542	170097542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggggcagtcaaagatgCcatcacacactacactcaga	8	12	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:170097542C>T	uc002ues.2	-	25	4214	c.4001G>A	c.(4000-4002)GGC>GAC	p.G1334D	LRP2_uc010zdf.1_Missense_Mutation_p.G1197D	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1334	LDL-receptor class A 15.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	GTCAAAGATGCCATCACACAC	0.493													T	170097542	C	T	170097542	3	4	193	1	0	0	0	0	1	0	0	0	8956	739	26	2	10186	2	LRP2	2	170097542	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1991021	170097542	73101831	270	105503											
FASTKD1	79675	broad.mit.edu	37	chr2	170417153	170417153	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataacgatatctaacatttcGaagaaactttgctatgcttt	5	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:170417153G>A	uc002uev.3	-	5	1103	c.715C>T	c.(715-717)CGA>TGA	p.R239*	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Nonsense_Mutation_p.R225*|FASTKD1_uc002uey.2_Nonsense_Mutation_p.R202*	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	239					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						CTAACATTTCGAAGAAACTTT	0.333													A	170417153	G	A	170417153	4	1	193	1	0	0	0	0	0	1	0	0	5685	1066	37	1	1872	1	FASTKD1	2	170417153	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	319611	170417153	72782220	271	105504											
UBR3	130507	broad.mit.edu	37	chr2	170897447	170897447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatcatgatgtaacaTcccttttgctcatccagatc	4	11	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:170897447T>C	uc010zdi.1	+	32	4612	c.4612T>C	c.(4612-4614)TCC>CCC	p.S1538P	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.S359P|UBR3_uc002uft.3_Missense_Mutation_p.S395P|UBR3_uc010zdj.1_Missense_Mutation_p.S229P|UBR3_uc002ufu.3_Missense_Mutation_p.S44P	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1538					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TGATGTAACATCCCTTTTGCT	0.323													C	170897447	T	C	170897447	3	2	193	1	0	0	0	0	1	0	0	0	16900	1435	50	3	4738	3	UBR3	2	170897447	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	480294	170897447	72301926	272	105505											
SCRN3	79634	broad.mit.edu	37	chr2	175263005	175263005	+	Splice_Site	DEL	A	A	-													catctgtataatttttagttAaaaaaaatggaacctttttc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:175263004_175263004TA>T	uc002uiq.3	+	2	90	c.-8_splice	c.e2-1		CIR1_uc002uim.3_5'Flank|CIR1_uc002uin.3_5'Flank|SCRN3_uc010zen.2_Intron|SCRN3_uc010zeo.2_Splice_Site|SCRN3_uc002uir.1_Splice_Site	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.						proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AATTTTTAGTTAAAAAAAATG	0.279													-	175263005	A	-	175263005	8	5	193	1	0	1	0	1	0	0	1	0	13940	377	13	0		0	SCRN3	2	175263005	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	4365558	175263005	67936368	273	105506											
TTN	7273	broad.mit.edu	37	chr2	179411522	179411522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcactgactggcttacGctctatgatgtagcccacaa	7	13	2	2	rs145099448	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179411522G>A	uc010zfg.1	-	290	87153	c.86929C>T	c.(86929-86931)CGT>TGT	p.R28977C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22672C|TTN_uc010zfi.1_Missense_Mutation_p.R22605C|TTN_uc010zfj.1_Missense_Mutation_p.R22480C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29904							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGCTTACGCTCTATGATG	0.498													A	179411522	G	A	179411522	3	1	193	1	0	0	0	0	1	0	0	0	16732	1087	38	1	13434	1	TTN	2	179411522	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4148517	179411522	63787851	274	105507											
TTN	7273	broad.mit.edu	37	chr2	179441417	179441417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttattgctctcacccatCgcaggcttttcttttctctc	4	13	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179441417C>T	uc010zfg.1	-	274	62074	c.61850G>A	c.(61849-61851)CGA>CAA	p.R20617Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14312Q|TTN_uc010zfi.1_Missense_Mutation_p.R14245Q|TTN_uc010zfj.1_Missense_Mutation_p.R14120Q|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21544							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCACCCATCGCAGGCTTTT	0.463													T	179441417	C	T	179441417	3	4	193	1	0	0	0	0	1	0	0	0	16732	884	31	1	38577	1	TTN	2	179441417	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	29895	179441417	63757956	275	105508											
TTN	7273	broad.mit.edu	37	chr2	179590542	179590542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcacttcccacttcattcTgtgctttgcagtggtattca	6	11	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179590542T>C	uc010zfg.1	-	67	16999	c.16775A>G	c.(16774-16776)CAG>CGG	p.Q5592R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2253R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6519							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTCATTCTGTGCTTTGCA	0.373													C	179590542	T	C	179590542	3	2	193	1	0	0	0	0	1	0	0	0	16732	1580	55	3	84194	3	TTN	2	179590542	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	149125	179590542	63608831	276	105509											
TTN	7273	broad.mit.edu	37	chr2	179590718	179590718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcacattcaagactgacTtcagcatttttaagggtttc	7	8	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179590718T>C	uc010zfg.1	-	67	16823	c.16599A>G	c.(16597-16599)GAA>GAG	p.E5533E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E2194E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6460							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGACTGACTTCAGCATTTT	0.413													C	179590718	T	C	179590718	2	2	193	1	0	0	0	0	0	0	0	1	16732	1606	56	3		3	TTN	2	179590718	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	176	179590718	63608655	277	105510											
TTN	7273	broad.mit.edu	37	chr2	179612257	179612257	+	Missense_Mutation	SNP	T	T	G													aaagtggacgacctagtgatTcctgtttctggttgtagtat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179612257T>G	uc002unb.2	-	46	15094	c.14870A>C	c.(14869-14871)GAA>GCA	p.E4957A	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTAGTGATTCCTGTTTCTG	0.418													G	179612257	T	G	179612257	3	3	193	1	0	0	0	0	1	0	0	0	16732	1783	62	5	95427	5	TTN	2	179612257	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	21539	179612257	63587116	278	105511	506	2									
TTN	7273	broad.mit.edu	37	chr2	179612262	179612262	+	Missense_Mutation	SNP	T	T	A													ggacgacctagtgattcctgTttctggttgtagtattcata							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179612262T>A	uc002unb.2	-	46	15089	c.14865A>T	c.(14863-14865)AAA>AAT	p.K4955N	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATTCCTGTTTCTGGTTGT	0.413													A	179612262	T	A	179612262	3	1	193	1	0	0	0	0	1	0	0	0	16732	1722	60	5	95432	5	TTN	2	179612262	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	5	179612262	63587111	279	105512	506	2									
TTN	7273	broad.mit.edu	37	chr2	179615191	179615191	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgggattggcatgtcattgTtataccacgtcactataggt	11	7	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179615191T>A	uc002unb.2	-	46	12160	c.11936A>T	c.(11935-11937)AAC>ATC	p.N3979I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTCATTGTTATACCACGT	0.328													A	179615191	T	A	179615191	3	1	193	1	0	0	0	0	1	0	0	0	16732	1725	60	5	98361	5	TTN	2	179615191	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2929	179615191	63584182	280	105513											
TTN	7273	broad.mit.edu	37	chr2	179621109	179621109	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggattcctctatcttTgcaccttcgtgagtccaggt	8	13	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179621109T>A	uc010zfh.1	-	44	10805	c.10581A>T	c.(10579-10581)GCA>GCT	p.A3527A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTATCTTTGCACCTTCGT	0.403													A	179621109	T	A	179621109	2	1	193	1	0	0	0	0	0	0	0	1	16732	1799	63	5		5	TTN	2	179621109	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	5918	179621109	63578264	281	105514											
TTN	7273	broad.mit.edu	37	chr2	179669352	179669352	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaacggctgcgtaaacgtCggtgcttgagttgtcatctt	12	8	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179669352C>T	uc002und.2	-	2	243	c.18G>A	c.(16-18)CCG>CCA	p.P6P	TTN_uc010zfg.1_Silent_p.P6P|TTN_uc010zfh.1_Silent_p.P6P|TTN_uc010zfi.1_Silent_p.P6P|TTN_uc010zfj.1_Silent_p.P6P|TTN_uc002unb.2_Silent_p.P6P			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	6							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGTAAACGTCGGTGCTTGAG	0.463													T	179669352	C	T	179669352	2	4	193	1	0	0	0	0	0	0	0	1	16732	871	31	1		1	TTN	2	179669352	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	48243	179669352	63530021	282	105515											
SESTD1	91404	broad.mit.edu	37	chr2	179986628	179986628	+	Frame_Shift_Del	DEL	T	T	-													tgatccaggagaccttgaccTttttcacgcaaaccttgcaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:179986628delT	uc002uni.3	-	13	1461	c.1311delA	c.(1309-1311)AAAfs	p.K437fs	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	437	Spectrin 2.				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GACCTTGACCTTTTTCACGCA	0.418													-	179986628	T	-	179986628	7	5	193	1	0	1	0	1	0	0	0	0	14127	1606	56	0	803	0	SESTD1	2	179986628	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	317276	179986628	63212745	283	105516											
CWC22	57703	broad.mit.edu	37	chr2	180823790	180823790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttcagcaatttgtgagCacattcttcaaaatctaaac	4	9	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:180823790C>T	uc010frh.1	-	14	1717	c.1417G>A	c.(1417-1419)GCT>ACT	p.A473T	CWC22_uc002uno.2_5'UTR|CWC22_uc002unp.2_Missense_Mutation_p.A473T	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	473	MI.					catalytic step 2 spliceosome	protein binding|RNA binding				0						AATTTGTGAGCACATTCTTCA	0.299													T	180823790	C	T	180823790	3	4	193	1	0	0	0	0	1	0	0	0	4068	710	25	2	1337	2	CWC22	2	180823790	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	837162	180823790	62375583	284	105517											
ZC3H15	55854	broad.mit.edu	37	chr2	187373387	187373387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgctgttcctgttgAtgaaaatcttttcactggag	9	7	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:187373387A>G	uc002upo.2	+	10	1433	c.1208A>G	c.(1207-1209)GAT>GGT	p.D403G		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	erythropoietin 4 immediate early response	403						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GTTCCTGTTGATGAAAATCTT	0.403													G	187373387	A	G	187373387	3	3	193	1	0	0	0	0	1	0	0	0	17564	333	12	3	1246	3	ZC3H15	2	187373387	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	6549597	187373387	55825986	285	105518											
FAM171B	165215	broad.mit.edu	37	chr2	187605148	187605148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcttacaaagatggctaCgtgttgacccctctgccttg	9	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:187605148C>T	uc002ups.2	+	2	544	c.432C>T	c.(430-432)TAC>TAT	p.Y144Y	FAM171B_uc002upr.1_Silent_p.Y144Y	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	144	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AAGATGGCTACGTGTTGACCC	0.338													T	187605148	C	T	187605148	2	4	193	1	0	0	0	0	0	0	0	1	5491	547	19	1		1	FAM171B	2	187605148	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	231761	187605148	55594225	286	105519											
STAT4	6775	broad.mit.edu	37	chr2	191898701	191898702	+	Frame_Shift_Ins	INS	-	-	A													attgcttcaagccatgtccaINSaaaggtaaatgatttaccag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:191898700_191898701C>CA	uc002usm.2	-	18	1966_1967	c.1651_1652G>TG	c.(1651-1653)tggfs	p.W551fs	STAT4_uc002usn.2_Frame_Shift_Ins_p.W551fs|STAT4_uc010zgk.1_Frame_Shift_Ins_p.W396fs|STAT4_uc002uso.2_Frame_Shift_Ins_p.W551fs	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	551					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)			AAGCCATGTCCAAAAGGTAAAT	0.287													A	191898702	-	A	191898701	7	5	193	1	0	1	1	0	0	0	0	0	15266	130	5	0	619	0	STAT4	2	191898701	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	4293553	191898701	51300672	287	105520											
GTF3C3	9330	broad.mit.edu	37	chr2	197629314	197629314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaataggtatacaaaagCgtttgagccattccggtatt	9	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:197629314C>T	uc002uts.2	-	18	2724	c.2634G>A	c.(2632-2634)ACG>ACA	p.T878T	GTF3C3_uc010zgu.1_Silent_p.T849T	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	878						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						TATACAAAAGCGTTTGAGCCA	0.443													T	197629314	C	T	197629314	2	4	193	1	0	0	0	0	0	0	0	1	6874	755	27	1		1	GTF3C3	2	197629314	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5730613	197629314	45570059	288	105521											
PLCL1	5334	broad.mit.edu	37	chr2	198966086	198966086	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacagtgtcagaaagcaggTaattgtttttaatttttttt	8	3	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:198966086T>A	uc010fsp.2	+	4	3286	c.2995_splice	c.e4+2	p.G999_splice	PLCL1_uc002uuv.3_Splice_Site_p.G920_splice	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;						intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	AGAAAGCAGGTAAttgttttt	0.274													A	198966086	T	A	198966086	5	1	193	1	0	0	0	0	0	0	1	0	12039	1652	57	5	3011	5	PLCL1	2	198966086	Splice_Site	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1336772	198966086	44233287	289	105522											
AOX1	316	broad.mit.edu	37	chr2	201469483	201469483	+	Frame_Shift_Del	DEL	C	C	-													tgagagaatgatgtggttttCccccgtgaccctgaaggaac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:201469483delC	uc002uvx.2	+	9	835	c.734delC	c.(733-735)TCCfs	p.S245fs		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	245	FAD-binding PCMH-type.				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			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGTGGTTTTCCCCCGTGACC	0.463													-	201469483	C	-	201469483	7	5	193	1	0	1	0	1	0	0	0	0	729	855	30	0	768	0	AOX1	2	201469483	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	2503397	201469483	41729890	290	105523											
AOX1	316	broad.mit.edu	37	chr2	201477410	201477410	+	Frame_Shift_Del	DEL	T	T	-													tcaattcaggaatgagagtcTtttttggagaaggggatggc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:201477410delT	uc002uvx.2	+	14	1443	c.1342delT	c.(1342-1344)TTTfs	p.F448fs	AOX1_uc010zhf.1_Frame_Shift_Del_p.F4fs|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	448					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			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AATGAGAGTCTTTTTTGGAGA	0.473													-	201477410	T	-	201477410	7	5	193	1	0	1	0	1	0	0	0	0	729	1609	56	0	1396	0	AOX1	2	201477410	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	7927	201477410	41721963	291	105524											
ORC2L	4999	broad.mit.edu	37	chr2	201798663	201798663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttaaaacttttgaactgCtgtgagcttcaaaatattct	7	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:201798663C>A	uc002uwr.2	-	10	1000	c.743G>T	c.(742-744)AGC>ATC	p.S248I	ORC2L_uc010zhj.1_Missense_Mutation_p.S248I	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	248					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						TTTTGAACTGCTGTGAGCTTC	0.338													A	201798663	C	A	201798663	3	1	193	1	0	0	0	0	1	0	0	0	11262	797	28	5	1026	5	ORC2L	2	201798663	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	321253	201798663	41400710	292	105525											
MPP4	58538	broad.mit.edu	37	chr2	202552029	202552029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgccttgaagtgtggagcCtggagcatttgtctcagctc	12	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:202552029C>A	uc002uyk.3	-	5	553	c.345G>T	c.(343-345)CAG>CAT	p.Q115H	MPP4_uc010ftj.2_Missense_Mutation_p.Q115H|MPP4_uc010zhq.1_Missense_Mutation_p.Q115H|MPP4_uc010zhr.1_Missense_Mutation_p.Q115H|MPP4_uc010zhs.1_Missense_Mutation_p.Q115H|MPP4_uc002uyj.3_Missense_Mutation_p.Q115H|MPP4_uc010zht.1_Intron|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q115H|MPP4_uc002uym.1_Missense_Mutation_p.Q128H|MPP4_uc002uyn.2_Missense_Mutation_p.Q115H	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	115	L27 2.					cytoplasm	protein binding				0						AGTGTGGAGCCTGGAGCATTT	0.413													A	202552029	C	A	202552029	3	1	193	1	0	0	0	0	1	0	0	0	9736	680	24	5	1640	5	MPP4	2	202552029	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	753366	202552029	40647344	293	105526											
ALS2	57679	broad.mit.edu	37	chr2	202622177	202622177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgactgcctccctctgtttcTtcttctctgatatccacaag	5	15	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:202622177T>C	uc002uyo.2	-	5	1775	c.1419A>G	c.(1417-1419)GAA>GAG	p.E473E	ALS2_uc002uyp.3_Silent_p.E473E|ALS2_uc002uyq.2_Silent_p.E473E	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	473					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			skin(5)|lung(1)|breast(1)	7						CCTCTGTTTCTTCTTCTCTGA	0.438													C	202622177	T	C	202622177	2	2	193	1	0	0	0	0	0	0	0	1	550	1606	56	3		3	ALS2	2	202622177	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	70148	202622177	40577196	294	105527											
ABI2	10152	broad.mit.edu	37	chr2	204255835	204255835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactcagaagccccctAgtccccctatgtcagggaaa	7	16	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:204255835A>G	uc002vaa.2	+	5	782	c.547A>G	c.(547-549)AGT>GGT	p.S183G	ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Missense_Mutation_p.S177G|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.S177G|ABI2_uc010zij.1_Missense_Mutation_p.S121G|ABI2_uc002vab.2_Missense_Mutation_p.S132G|ABI2_uc010zik.1_Missense_Mutation_p.S18G|ABI2_uc010zil.1_Missense_Mutation_p.S18G|ABI2_uc010zim.1_Missense_Mutation_p.S18G|ABI2_uc002vac.2_Missense_Mutation_p.S18G	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	183	Pro-rich.				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				0						GAAGCCCCCTAGTCCCCCTAT	0.408													G	204255835	A	G	204255835	3	3	193	1	0	0	0	0	1	0	0	0	89	420	15	3	543	3	ABI2	2	204255835	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1633658	204255835	38943538	295	105528											
NRP2	8828	broad.mit.edu	37	chr2	206607957	206607957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacatgctggggatgcTctcaggcctcattgcagact	10	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:206607957T>C	uc002vaw.2	+	9	2113	c.1322T>C	c.(1321-1323)CTC>CCC	p.L441P	NRP2_uc002vat.2_Missense_Mutation_p.L441P|NRP2_uc002vau.2_Missense_Mutation_p.L441P|NRP2_uc002vav.2_Missense_Mutation_p.L441P|NRP2_uc002vax.2_Missense_Mutation_p.L441P|NRP2_uc002vay.2_Missense_Mutation_p.L441P|NRP2_uc010fud.2_Missense_Mutation_p.L441P	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	441	Extracellular (Potential).|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			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGGGGATGCTCTCAGGCCTC	0.602													C	206607957	T	C	206607957	3	2	193	1	0	0	0	0	1	0	0	0	10661	1551	54	3	1356	3	NRP2	2	206607957	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2352122	206607957	36591416	296	105529											
FZD5	7855	broad.mit.edu	37	chr2	208633251	208633251	+	Nonsense_Mutation	SNP	C	C	T													cattggatctccaccagcggCcagaactggtgcacctccag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:208633251C>T	uc002vcj.2	-	2	623	c.213G>A	c.(211-213)TGG>TGA	p.W71*		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	71	FZ.|Extracellular (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CCACCAGCGGCCAGAACTGGT	0.632													T	208633251	C	T	208633251	4	4	193	1	0	0	0	0	0	1	0	0	6133	740	26	2	1548	2	FZD5	2	208633251	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2025294	208633251	34566122	297	105530	507	2									
FZD5	7855	broad.mit.edu	37	chr2	208633259	208633259	+	Nonsense_Mutation	SNP	G	G	A													ctccaccagcggccagaactGgtgcacctccaggcccgcct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:208633259G>A	uc002vcj.2	-	2	615	c.205C>T	c.(205-207)CAG>TAG	p.Q69*		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	69	FZ.|Extracellular (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGCCAGAACTGGTGCACCTCC	0.617													A	208633259	G	A	208633259	4	1	193	1	0	0	0	0	0	1	0	0	6133	1357	47	4	1556	4	FZD5	2	208633259	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	8	208633259	34566114	298	105531	507	2									
PLEKHM3	389072	broad.mit.edu	37	chr2	208841408	208841408	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgagcagtgagtcctcGttccaaagacaaagtcgtca	9	11	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:208841408G>A	uc002vcl.2	-	3	2003	c.1513C>T	c.(1513-1515)CGA>TGA	p.R505*	PLEKHM3_uc002vcm.2_Nonsense_Mutation_p.R505*	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	505					intracellular signal transduction		metal ion binding			ovary(1)	1						GTGAGTCCTCGTTCCAAAGAC	0.443													A	208841408	G	A	208841408	4	1	193	1	0	0	0	0	0	1	0	0	12082	1153	40	1	796	1	PLEKHM3	2	208841408	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	208149	208841408	34357965	299	105532											
CRYGA	1418	broad.mit.edu	37	chr2	209025753	209025753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgagctcagacataagGcctcggtagtcatctctctc	9	12	5	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:209025753G>A	uc002vcq.3	-	3	317	c.300C>T	c.(298-300)GGC>GGT	p.G100G		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	100	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CAGACATAAGGCCTCGGTAGT	0.502													A	209025753	G	A	209025753	2	1	193	1	0	0	0	0	0	0	0	1	3914	1190	42	2		2	CRYGA	2	209025753	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	184345	209025753	34173620	300	105533											
MAP2	4133	broad.mit.edu	37	chr2	210559300	210559300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaaaatggtactgtcatGgcacctgaccttcctgaaat	7	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:210559300G>T	uc002vde.1	+	7	2654	c.2406G>T	c.(2404-2406)ATG>ATT	p.M802I	MAP2_uc002vdc.1_Missense_Mutation_p.M802I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.M798I	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	802					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	GTACTGTCATGGCACCTGACC	0.448													T	210559300	G	T	210559300	3	4	193	1	0	0	0	0	1	0	0	0	9235	1348	47	5	2420	5	MAP2	2	210559300	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1533547	210559300	32640073	301	105534											
ATIC	471	broad.mit.edu	37	chr2	216198174	216198174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagcggcatatgcaagaGcaagaggtcagactcatagg	12	9	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:216198174G>A	uc002vex.3	+	9	1090	c.916G>A	c.(916-918)GCA>ACA	p.A306T	ATIC_uc010zjo.1_Missense_Mutation_p.A247T|ATIC_uc002vey.3_Missense_Mutation_p.A305T	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	306					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		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)	ATATGCAAGAGCAAGAGGTCA	0.383			T	ALK	ALCL								A	216198174	G	A	216198174	3	1	193	1	0	0	0	0	1	0	0	0	1105	971	34	2	950	2	ATIC	2	216198174	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5638874	216198174	27001199	302	105535											
FN1	2335	broad.mit.edu	37	chr2	216251612	216251612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatggtggctcgaggaGcaatccagtgcacagtaaaa	13	8	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:216251612G>A	uc002vfa.2	-	28	4678	c.4412C>T	c.(4411-4413)GCT>GTT	p.A1471V	FN1_uc002vfb.2_Missense_Mutation_p.A1380V|FN1_uc002vfc.2_Missense_Mutation_p.A1380V|FN1_uc002vfd.2_Missense_Mutation_p.A1471V|FN1_uc002vfe.2_Missense_Mutation_p.A1380V|FN1_uc002vff.2_Missense_Mutation_p.A1380V|FN1_uc002vfg.2_Missense_Mutation_p.A1380V|FN1_uc002vfh.2_Missense_Mutation_p.A1380V|FN1_uc002vfi.2_Missense_Mutation_p.A1471V|FN1_uc002vfj.2_Missense_Mutation_p.A1471V|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.A98V	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1470	Fibronectin type-III 10.|Cell-attachment.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	GGCTCGAGGAGCAATCCAGTG	0.527													A	216251612	G	A	216251612	3	1	193	1	0	0	0	0	1	0	0	0	5962	971	34	2	3097	2	FN1	2	216251612	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	53438	216251612	26947761	303	105536											
TNS1	7145	broad.mit.edu	37	chr2	218700768	218700768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgccctccaggattgagagcGatggtaagagccagctccgg	14	12	0	2	rs61743061	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:218700768G>A	uc002vgt.2	-	18	3197	c.2799C>T	c.(2797-2799)ATC>ATT	p.I933I	TNS1_uc002vgr.2_Silent_p.I933I|TNS1_uc002vgs.2_Silent_p.I933I|TNS1_uc010zjv.1_Silent_p.I933I	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	933						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		GATTGAGAGCGATGGTAAGAG	0.562													A	218700768	G	A	218700768	2	1	193	1	0	0	0	0	0	0	0	1	16340	1048	37	1		1	TNS1	2	218700768	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2449156	218700768	24498605	304	105537											
CCDC108	255101	broad.mit.edu	37	chr2	219895549	219895549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcaccagcagctgggcGcacttggctggggcagagat	15	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:219895549G>A	uc002vjl.1	-	9	1107	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.C330C|CCDC108_uc010zkq.1_Silent_p.C276C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	341						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		GCAGCTGGGCGCACTTGGCTG	0.637													A	219895549	G	A	219895549	2	1	193	1	0	0	0	0	0	0	0	1	2743	1079	38	1		1	CCDC108	2	219895549	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1194781	219895549	23303824	305	105538											
STK16	8576	broad.mit.edu	37	chr2	220112985	220112985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtgttccaaaagggtgAcagtgtggcccttgctgtgc	14	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220112985A>G	uc002vko.2	+	7	885	c.728A>G	c.(727-729)GAC>GGC	p.D243G	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.D125G|STK16_uc002vkp.2_Missense_Mutation_p.D243G|STK16_uc002vkr.2_Missense_Mutation_p.D176G|STK16_uc002vkq.2_Missense_Mutation_p.D288G	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	243	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)		CAAAAGGGTGACAGTGTGGCC	0.522													G	220112985	A	G	220112985	3	3	193	1	0	0	0	0	1	0	0	0	15288	275	10	3	750	3	STK16	2	220112985	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	217436	220112985	23086388	306	105539											
CHPF	79586	broad.mit.edu	37	chr2	220404779	220404779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgcgctgggcctggcGcggctcatacagtagcagca	15	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220404779G>A	uc002vmc.3	-	4	1881	c.1654C>T	c.(1654-1656)CGC>TGC	p.R552C	CHPF_uc010zlh.1_Missense_Mutation_p.R390C	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	552	Lumenal (Potential).|Ala-rich.					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				0		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)		TGGGCCTGGCGCGGCTCATAC	0.677													A	220404779	G	A	220404779	3	1	193	1	0	0	0	0	1	0	0	0	3368	1087	38	1	677	1	CHPF	2	220404779	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	291794	220404779	22794594	307	105540											
TMEM198	130612	broad.mit.edu	37	chr2	220409549	220409549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagcccctggagcgcaggTaccaggcactgccggccctc	12	17	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220409549T>C	uc002vme.2	+	3	685	c.100T>C	c.(100-102)TAC>CAC	p.Y34H	CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmc.3_5'Flank|CHPF_uc002vmd.3_5'Flank|TMEM198_uc002vmf.2_Missense_Mutation_p.Y34H	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	34						integral to membrane				ovary(1)	1		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)		GGAGCGCAGGTACCAGGCACT	0.607													C	220409549	T	C	220409549	3	2	193	1	0	0	0	0	1	0	0	0	16116	1638	57	3	102	3	TMEM198	2	220409549	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	4770	220409549	22789824	308	105541											
OBSL1	23363	broad.mit.edu	37	chr2	220432804	220432804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacgttggccacggtgcGcacccggccccgcatctcgc	13	17	1	1	rs79295927		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:220432804G>A	uc010fwk.2	-	2	1312	c.1255C>T	c.(1255-1257)CGC>TGC	p.R419C	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R419C|OBSL1_uc002vmj.2_Missense_Mutation_p.R6C	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	419	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		GCCACGGTGCGCACCCGGCCC	0.617											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	220432804	G	A	220432804	3	1	193	1	0	0	0	0	1	0	0	0	10813	1087	38	1	4667	1	OBSL1	2	220432804	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	23255	220432804	22766569	309	105542											
SERPINE2	5270	broad.mit.edu	37	chr2	224866442	224866442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatccccaggaccgacGcaatcccatggggagagatc	12	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:224866442G>A	uc002vnu.2	-	2	419	c.176C>T	c.(175-177)GCG>GTG	p.A59V	SERPINE2_uc002vnt.2_Missense_Mutation_p.A59V|SERPINE2_uc010zlr.1_Missense_Mutation_p.A71V|SERPINE2_uc002vnv.2_Missense_Mutation_p.A59V	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	59					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)|ovary(1)|central_nervous_system(1)	4		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)		CAGGACCGACGCAATCCCATG	0.557													A	224866442	G	A	224866442	3	1	193	1	0	0	0	0	1	0	0	0	14112	1087	38	1	1052	1	SERPINE2	2	224866442	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4433638	224866442	18332931	310	105543											
IRS1	3667	broad.mit.edu	37	chr2	227662389	227662389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccccgatgccggtgggCgtgggttctgttggtgctgg	19	10	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:227662389C>T	uc002voh.3	-	1	1118	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	356	Ser-rich.				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		TGCCGGTGGGCGTGGGTTCTG	0.721											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	227662389	C	T	227662389	3	4	193	1	0	0	0	0	1	0	0	0	7840	768	27	1	2666	1	IRS1	2	227662389	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2795947	227662389	15536984	311	105544											
SPHKAP	80309	broad.mit.edu	37	chr2	228882351	228882351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagccggctccacctGtcgccactcagtaaccgatt	8	17	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:228882351G>A	uc002vpq.2	-	7	3266	c.3219C>T	c.(3217-3219)GAC>GAT	p.D1073D	SPHKAP_uc002vpp.2_Silent_p.D1073D|SPHKAP_uc010zlx.1_Silent_p.D1073D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1073						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		GGCTCCACCTGTCGCCACTCA	0.582													A	228882351	G	A	228882351	2	1	193	1	0	0	0	0	0	0	0	1	15047	1368	48	4		4	SPHKAP	2	228882351	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1219962	228882351	14317022	312	105545											
TRIP12	9320	broad.mit.edu	37	chr2	230642151	230642151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcagtgaagtttcttgCcgtagcatccatttataaaa	8	7	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:230642151C>T	uc002vpw.1	-	36	5293	c.5184G>A	c.(5182-5184)CGG>CGA	p.R1728R	TRIP12_uc002vpx.1_Silent_p.R1776R|TRIP12_uc002vpy.1_Silent_p.R1458R	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1728					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		AAGTTTCTTGCCGTAGCATCC	0.413													T	230642151	C	T	230642151	2	4	193	1	0	0	0	0	0	0	0	1	16553	726	26	2		2	TRIP12	2	230642151	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1759800	230642151	12557222	313	105546											
C2orf57	165100	broad.mit.edu	37	chr2	232458553	232458553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacatcctggtgtggtcCgagaccaccatgggcatggc	14	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:232458553C>T	uc002vrz.2	+	1	942	c.891C>T	c.(889-891)TCC>TCT	p.S297S		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	297										ovary(1)	1		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)		TGGTGTGGTCCGAGACCACCA	0.647													T	232458553	C	T	232458553	2	4	193	1	0	0	0	0	0	0	0	1	2178	639	23	1		1	C2orf57	2	232458553	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1816402	232458553	10740820	314	105547											
ECEL1	9427	broad.mit.edu	37	chr2	233348859	233348859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgccagctcgtgcagtGcctcacggaatggcggggac	15	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:233348859G>A	uc002vsv.2	-	7	1464	c.1259C>T	c.(1258-1260)GCA>GTA	p.A420V	ECEL1_uc010fya.1_Missense_Mutation_p.A420V|ECEL1_uc010fyb.1_Missense_Mutation_p.A127V	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	420	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		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)		CTCGTGCAGTGCCTCACGGAA	0.647													A	233348859	G	A	233348859	3	1	193	1	0	0	0	0	1	0	0	0	4891	1319	46	2	1116	2	ECEL1	2	233348859	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	890306	233348859	9850514	315	105548											
DNAJB3	414061	broad.mit.edu	37	chr2	234652528	234652528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcggatgaggcctgcCggggcacgtccagcacctcg	15	15	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:234652528C>A	uc002vuz.2	-	1	134	c.35G>T	c.(34-36)CGG>CTG	p.R12L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	12	J.				protein folding		heat shock protein binding|unfolded protein binding				0						TGAGGCCTGCCGGGGCACGTC	0.642													A	234652528	C	A	234652528	3	1	193	1	0	0	0	0	1	0	0	0	4621	652	23	5	406	5	DNAJB3	2	234652528	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1303669	234652528	8546845	316	105549											
AGAP1	116987	broad.mit.edu	37	chr2	237032595	237032595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacggcccgagatgcccaCgggaacacagctctggccta	12	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:237032595C>T	uc002vvs.2	+	18	2998	c.2403C>T	c.(2401-2403)CAC>CAT	p.H801H	AGAP1_uc002vvt.2_Silent_p.H748H	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	801	ANK 2.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GAGATGCCCACGGGAACACAG	0.647													T	237032595	C	T	237032595	2	4	193	1	0	0	0	0	0	0	0	1	366	535	19	1		1	AGAP1	2	237032595	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2380067	237032595	6166778	317	105550											
CXCR7	57007	broad.mit.edu	37	chr2	237489456	237489456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccatgggcgagctcacGtgcaaagtcacacacctcat	10	14	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:237489456G>A	uc010fyq.2	+	3	578	c.348G>A	c.(346-348)ACG>ACA	p.T116T	CXCR7_uc002vwd.2_Silent_p.T116T	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	116	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCGAGCTCACGTGCAAAGTCA	0.562													A	237489456	G	A	237489456	2	1	193	1	0	0	0	0	0	0	0	1	4096	1132	40	1		1	CXCR7	2	237489456	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	456861	237489456	5709917	318	105551											
PER2	8864	broad.mit.edu	37	chr2	239186494	239186494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgtccacatcttcctgCagtgggacctggctgggctg	12	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:239186494C>T	uc002vyc.2	-	2	321	c.84G>A	c.(82-84)CTG>CTA	p.L28L	PER2_uc010znv.1_Silent_p.L28L|PER2_uc010znw.1_Silent_p.L28L|PER2_uc010fyx.1_Silent_p.L28L	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	28					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		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)		CATCTTCCTGCAGTGGGACCT	0.617													T	239186494	C	T	239186494	2	4	193	1	0	0	0	0	0	0	0	1	11730	697	25	2		2	PER2	2	239186494	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1697038	239186494	4012879	319	105552											
ASB1	51665	broad.mit.edu	37	chr2	239344354	239344354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgttcctcctgcagccGcatcaacgagaagtctgtct	9	13	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:239344354G>A	uc002vyg.2	+	3	280	c.194G>A	c.(193-195)CGC>CAC	p.R65H		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	65	ANK 1.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		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)		TCCTGCAGCCGCATCAACGAG	0.652													A	239344354	G	A	239344354	3	1	193	1	0	0	0	0	1	0	0	0	1013	1087	38	1	204	1	ASB1	2	239344354	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	157860	239344354	3855019	320	105553											
GPC1	2817	broad.mit.edu	37	chr2	241401788	241401788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccgagttctgggcccGcctgctcgagcgcctcttca	13	16	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:241401788G>A	uc002vyw.3	+	3	727	c.506G>A	c.(505-507)CGC>CAC	p.R169H		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	169					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		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)		TTCTGGGCCCGCCTGCTCGAG	0.677													A	241401788	G	A	241401788	3	1	193	1	0	0	0	0	1	0	0	0	6597	1087	38	1	516	1	GPC1	2	241401788	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2057434	241401788	1797585	321	105554											
ANKMY1	51281	broad.mit.edu	37	chr2	241468876	241468876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgtcctggctgccatcGgggtaggtctcgacacctgg	13	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:241468876G>A	uc002vyz.1	-	4	493	c.264C>T	c.(262-264)CCC>CCT	p.P88P	ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.P177P|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	88	MORN 3.						zinc ion binding			central_nervous_system(1)	1		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)		GGCTGCCATCGGGGTAGGTCT	0.602													A	241468876	G	A	241468876	2	1	193	1	0	0	0	0	0	0	0	1	634	1103	39	1		1	ANKMY1	2	241468876	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	67088	241468876	1730497	322	105555											
STK25	10494	broad.mit.edu	37	chr2	242438541	242438541	+	Frame_Shift_Del	DEL	C	C	-													gaggtcagagtttggaggctCccccttggccagctcgatgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:242438540_242438540TC>T	uc002wbm.3	-	5	906	c.635_635GA>A	c.(634-636)gagfs	p.E212fs	STK25_uc002wbl.3_Frame_Shift_Del_p.E31fs|STK25_uc002wbn.3_Frame_Shift_Del_p.E212fs|STK25_uc002wbo.3_Frame_Shift_Del_p.E135fs|STK25_uc010zos.2_Frame_Shift_Del_p.E118fs|STK25_uc010zot.2_Frame_Shift_Del_p.E138fs|STK25_uc002wbp.3_Frame_Shift_Del_p.E212fs|STK25_uc010fzo.3_Frame_Shift_Del_p.E135fs|STK25_uc010zou.2_Frame_Shift_Del_p.E118fs|STK25_uc010zov.2_Frame_Shift_Del_p.E118fs	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	212	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)		GTTTGGAGGCTCCCCCTTGGC	0.617													-	242438541	C	-	242438541	7	5	193	1	0	1	0	1	0	0	0	0	15293	864	30	0	670	0	STK25	2	242438541	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	969665	242438541	760832	323	105556											
ING5	84289	broad.mit.edu	37	chr2	242662669	242662669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgcgtggaccttaccacGaaacccaaaggaaaatggtg	11	11	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr2:242662669G>A	uc002wcd.2	+	7	688	c.663G>A	c.(661-663)ACG>ACA	p.T221T		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	221	PHD-type.				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				0		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)		ACCTTACCACGAAACCCAAAG	0.532													A	242662669	G	A	242662669	2	1	193	1	0	0	0	0	0	0	0	1	7739	1045	37	1		1	ING5	2	242662669	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	224128	242662669	536704	324	105557											
SETD5	55209	broad.mit.edu	37	chr3	9512161	9512161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttgtcaccgaaaagacCtggatttggcaaaagtagga	11	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:9512161C>T	uc003brt.2	+	19	3178	c.2743C>T	c.(2743-2745)CTG>TTG	p.L915L	SETD5_uc003bru.2_Silent_p.L817L|SETD5_uc003brv.2_Silent_p.L804L|SETD5_uc010hck.2_Silent_p.L397L|SETD5_uc003brx.2_Silent_p.L584L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	915										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCGAAAAGACCTGGATTTGGC	0.478													T	9512161	C	T	9512161	2	4	193	1	0	0	0	0	0	0	0	1	14134	680	24	4		4	SETD5	3	9512161	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08		9512161	188510269	325	105558											
BRPF1	7862	broad.mit.edu	37	chr3	9781094	9781094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtgccccaacaagggCggtgccttcaagcagacaga	12	14	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:9781094C>T	uc003bse.2	+	3	1410	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	BRPF1_uc003bsf.2_Silent_p.G337G|BRPF1_uc003bsg.2_Silent_p.G337G|BRPF1_uc011ati.1_Silent_p.G337G	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	337					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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CCAACAAGGGCGGTGCCTTCA	0.622													T	9781094	C	T	9781094	2	4	193	1	0	0	0	0	0	0	0	1	1520	755	27	1		1	BRPF1	3	9781094	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	268933	9781094	188241336	326	105559											
TTLL3	26140	broad.mit.edu	37	chr3	9877137	9877137	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcaagagtggatggggcGaggccgtgtaccccagggtc	19	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:9877137G>A	uc003btg.2	+	13	2499	c.2283G>A	c.(2281-2283)GCG>GCA	p.A761A	ARPC4_uc003btc.1_Intron	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	761					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					TGGATGGGGCGAGGCCGTGTA	0.562													A	9877137	G	A	9877137	2	1	193	1	0	0	0	0	0	0	0	1	16725	1045	37	1		1	TTLL3	3	9877137	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	96043	9877137	188145293	327	105560											
FANCD2	2177	broad.mit.edu	37	chr3	10114936	10114936	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctctttttaatataaaaGaaaggaaacaaaaaacagat	4	4	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:10114936G>T	uc003buw.2	+	28	2684	c.2606_splice	c.e28-1	p.E869_splice	FANCD2_uc003bux.1_Splice_Site_p.E869_splice|FANCD2_uc003buy.1_Splice_Site_p.E869_splice|FANCD2_uc010hcw.1_Splice_Site	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform						DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAATATAAAAGAAAGGAAACA	0.378			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	10114936	G	T	10114936	5	4	193	1	0	0	0	0	0	0	1	0	5665	956	33	5	2711	5	FANCD2	3	10114936	Splice_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	237799	10114936	187907494	328	105561											
TMEM40	55287	broad.mit.edu	37	chr3	12783970	12783970	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctccatagagttgaagcTcatccttcaaaacgtcaggc	7	12	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:12783970T>G	uc003bxg.1	-	5	465	c.338A>C	c.(337-339)GAG>GCG	p.E113A	TMEM40_uc003bxh.1_Missense_Mutation_p.E83A|TMEM40_uc003bxi.1_Missense_Mutation_p.E37A|TMEM40_uc011auv.1_Missense_Mutation_p.E129A	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	113						integral to membrane					0						GAGTTGAAGCTCATCCTTCAA	0.507													G	12783970	T	G	12783970	3	3	193	1	0	0	0	0	1	0	0	0	16160	1551	54	5	395	5	TMEM40	3	12783970	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2669034	12783970	185238460	329	105562											
TMEM43	79188	broad.mit.edu	37	chr3	14183281	14183281	+	Frame_Shift_Del	DEL	A	A	-													ctcggacacgggtgccagccAaaaagttggagtgaaaagac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:14183281delA	uc003byk.2	+	12	1443	c.1189delA	c.(1189-1191)AAAfs	p.K397fs		NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	397	Nuclear (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						GGTGCCAGCCAAAAAGTTGGA	0.642													-	14183281	A	-	14183281	7	5	193	1	0	1	0	1	0	0	0	0	16164	131	5	0	1235	0	TMEM43	3	14183281	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1399311	14183281	183839149	330	105563											
LSM3	27258	broad.mit.edu	37	chr3	14239580	14239580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgtccggggagatggCgttgtcctggttgcccctcc	13	13	1	1	rs112724438	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:14239580C>T	uc003byn.2	+	4	302	c.273C>T	c.(271-273)GGC>GGT	p.G91G	uc003byo.1_5'Flank	NM_014463	NP_055278	P62310	LSM3_HUMAN	Lsm3 protein	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			ovary(1)	1						GGGGAGATGGCGTTGTCCTGG	0.418													T	14239580	C	T	14239580	2	4	193	1	0	0	0	0	0	0	0	1	9057	755	27	1		1	LSM3	3	14239580	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	56299	14239580	183782850	331	105564											
GRIP2	80852	broad.mit.edu	37	chr3	14554310	14554310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgatgcccagctccacGctgcgcttcttgggcagctt	12	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:14554310G>A	uc011avi.1	-	15	1989	c.1989C>T	c.(1987-1989)AGC>AGT	p.S663S	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.S194S	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	565	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CCAGCTCCACGCTGCGCTTCT	0.597													A	14554310	G	A	14554310	2	1	193	1	0	0	0	0	0	0	0	1	6788	1078	38	1		1	GRIP2	3	14554310	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	314730	14554310	183468120	332	105565											
RFTN1	23180	broad.mit.edu	37	chr3	16419244	16419244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgagagtggctcttcAtgcacctccaaggggttgct	11	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:16419244A>G	uc003cay.2	-	5	1089	c.807T>C	c.(805-807)CAT>CAC	p.H269H	RFTN1_uc010hes.2_Silent_p.H233H	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	269						plasma membrane				ovary(3)|central_nervous_system(1)	4						GTGGCTCTTCATGCACCTCCA	0.527													G	16419244	A	G	16419244	2	3	193	1	0	0	0	0	0	0	0	1	13258	214	8	3		3	RFTN1	3	16419244	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1864934	16419244	181603186	333	105566											
TGFBR2	7048	broad.mit.edu	37	chr3	30713226	30713226	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttgccatatctgtcatcaTcatcttctactgctaccgcg	6	13	6	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:30713226T>A	uc003ceo.2	+	4	933	c.551T>A	c.(550-552)ATC>AAC	p.I184N	TGFBR2_uc003cen.2_Missense_Mutation_p.I209N	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	184	Helical; (Potential).				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|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 I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						TCTGTCATCATCATCTTCTAC	0.512													A	30713226	T	A	30713226	3	1	193	1	0	0	0	0	1	0	0	0	15819	1435	50	5	644	5	TGFBR2	3	30713226	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	14293982	30713226	167309204	334	105567											
PDCD6IP	10015	broad.mit.edu	37	chr3	33907899	33907899	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcgtatggccagtataAtatgccatatccaccagtgt	8	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:33907899A>T	uc003cfx.2	+	18	2644	c.2489A>T	c.(2488-2490)AAT>ATT	p.N830I	PDCD6IP_uc003cfy.2_Missense_Mutation_p.N835I|PDCD6IP_uc011axw.1_Missense_Mutation_p.N611I	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	830	Pro-rich.|Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						GGCCAGTATAATATGCCATAT	0.483													T	33907899	A	T	33907899	3	4	193	1	0	0	0	0	1	0	0	0	11624	101	4	5	2574	5	PDCD6IP	3	33907899	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3194673	33907899	164114531	335	105568											
DLEC1	9940	broad.mit.edu	37	chr3	38136374	38136374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgttgcccccacaggcacGtggagctggccttctactgg	13	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:38136374G>A	uc003cho.1	+	13	1945	c.1924G>A	c.(1924-1926)GTG>ATG	p.V642M	DLEC1_uc003chp.1_Missense_Mutation_p.V642M|DLEC1_uc010hgv.1_Missense_Mutation_p.V642M|DLEC1_uc003chr.1_Translation_Start_Site|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	642					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCACAGGCACGTGGAGCTGGC	0.612													A	38136374	G	A	38136374	3	1	193	1	0	0	0	0	1	0	0	0	4552	1145	40	1	1974	1	DLEC1	3	38136374	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4228475	38136374	159886056	336	105569											
GORASP1	64689	broad.mit.edu	37	chr3	39139895	39139895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactgtcaggaagagtcagCtgaggcaggtggtccgcctg	16	9	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:39139895C>T	uc003ciw.1	-	9	1253	c.1155G>A	c.(1153-1155)CAG>CAA	p.Q385Q	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Silent_p.Q290Q|GORASP1_uc003ciz.1_Silent_p.Q230Q	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	385					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAAGAGTCAGCTGAGGCAGGT	0.597													T	39139895	C	T	39139895	2	4	193	1	0	0	0	0	0	0	0	1	6575	796	28	2		2	GORASP1	3	39139895	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1003521	39139895	158882535	337	105570											
XIRP1	165904	broad.mit.edu	37	chr3	39227515	39227515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggatgagcggtgtagatgCcatcctgaattgtcacccac	12	11	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:39227515C>A	uc003cjk.1	-	2	3643	c.3422G>T	c.(3421-3423)GGC>GTC	p.G1141V	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1141							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTGTAGATGCCATCCTGAAT	0.607													A	39227515	C	A	39227515	3	1	193	1	0	0	0	0	1	0	0	0	17426	739	26	5	2113	5	XIRP1	3	39227515	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	87620	39227515	158794915	338	105571											
MYRIP	25924	broad.mit.edu	37	chr3	40192665	40192665	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggagagtggcgcgtgcttCgacattctaggtactctcac	12	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:40192665C>T	uc003cka.2	+	4	594	c.459C>T	c.(457-459)TTC>TTT	p.F153F	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.F153F|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Silent_p.F153F|MYRIP_uc011ayz.1_5'UTR	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	153	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCGCGTGCTTCGACATTCTAG	0.567													T	40192665	C	T	40192665	2	4	193	1	0	0	0	0	0	0	0	1	10100	883	31	1		1	MYRIP	3	40192665	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	965150	40192665	157829765	339	105572											
ZNF619	285267	broad.mit.edu	37	chr3	40528780	40528780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacactggagagaaaccatActcatgtgaggaatgtggac	11	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:40528780A>G	uc011azb.1	+	6	1177	c.899A>G	c.(898-900)TAC>TGC	p.Y300C	ZNF619_uc010hhz.2_Missense_Mutation_p.Y251C|ZNF619_uc003ckj.2_Missense_Mutation_p.Y244C|ZNF619_uc011azc.1_Missense_Mutation_p.Y260C|ZNF619_uc011azd.1_Missense_Mutation_p.Y216C|ZNF619_uc011aza.1_Missense_Mutation_p.Y202C	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	300					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGAAACCATACTCATGTGAG	0.443													G	40528780	A	G	40528780	3	3	193	1	0	0	0	0	1	0	0	0	18040	391	14	3	939	3	ZNF619	3	40528780	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	336115	40528780	157493650	340	105573											
ZNF621	285268	broad.mit.edu	37	chr3	40574091	40574092	+	Frame_Shift_Del	DEL	TT	TT	-													agctttcggttgtaggtcacTttttattgtccatcagagaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:40574090_40574091CTT>C	uc003ckm.2	+	4	1045_1046	c.829_830CTT>C	c.(829-831)cttfs	p.L277fs	ZNF621_uc003ckn.2_Frame_Shift_Del_p.L277fs|ZNF621_uc003cko.2_Frame_Shift_Del_p.L242fs|ZNF621_uc011aze.1_Frame_Shift_Del_p.L269fs	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TTGTAGGTCACTTTTTATTGTC	0.436													-	40574092	TT	-	40574091	7	5	193	1	0	1	0	1	0	0	0	0	18042	1609	56	0	844	0	ZNF621	3	40574091	Frame_Shift_Del	DEL	TT	TCGA-CG-5726-01A-11D-1600-08	45311	40574091	157448339	341	105574											
CTNNB1	1499	broad.mit.edu	37	chr3	41268742	41268742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaagctttagtaaataTaatgaggacctatacttacg	6	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:41268742T>C	uc010hia.1	+	8	1136	c.980T>C	c.(979-981)ATA>ACA	p.I327T	CTNNB1_uc003ckp.2_Missense_Mutation_p.I327T|CTNNB1_uc003ckq.2_Missense_Mutation_p.I327T|CTNNB1_uc003ckr.2_Missense_Mutation_p.I327T|CTNNB1_uc011azf.1_Missense_Mutation_p.I320T|CTNNB1_uc011azg.1_Missense_Mutation_p.I255T|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	327	ARM 5.				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)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTAGTAAATATAATGAGGACC	0.398		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				C	41268742	T	C	41268742	3	2	193	1	0	0	0	0	1	0	0	0	4016	1406	49	3	1002	3	CTNNB1	3	41268742	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	694651	41268742	156753688	342	105575											
ULK4	54986	broad.mit.edu	37	chr3	41607548	41607548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttccatattcgaatctTtgcaggcaactagattgctg	9	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:41607548T>G	uc003ckv.3	-	32	3395	c.3194A>C	c.(3193-3195)AAA>ACA	p.K1065T		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1065							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATTCGAATCTTTGCAGGCAAC	0.328													G	41607548	T	G	41607548	3	3	193	1	0	0	0	0	1	0	0	0	16975	1841	64	5	657	5	ULK4	3	41607548	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	338806	41607548	156414882	343	105576											
TRAK1	22906	broad.mit.edu	37	chr3	42244033	42244033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgggagaactacctctcGgagaggaggttctttgagga	15	9	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:42244033G>A	uc003cky.2	+	13	1749	c.1533G>A	c.(1531-1533)TCG>TCA	p.S511S	TRAK1_uc011azh.1_Silent_p.S511S|TRAK1_uc011azi.1_Silent_p.S511S|TRAK1_uc003ckz.3_Silent_p.S437S|TRAK1_uc011azj.1_Silent_p.S437S|TRAK1_uc003cla.2_Silent_p.S453S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	511	Potential.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ACTACCTCTCGGAGAGGAGGT	0.662													A	42244033	G	A	42244033	2	1	193	1	0	0	0	0	0	0	0	1	16446	1103	39	1		1	TRAK1	3	42244033	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	636485	42244033	155778397	344	105577											
CCDC13	152206	broad.mit.edu	37	chr3	42772008	42772008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccggtcacgctccacctCggcagcctgccagagggcct	13	17	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:42772008C>T	uc003cly.3	-	13	1753	c.1669G>A	c.(1669-1671)GAG>AAG	p.E557K		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	557	Potential.									ovary(1)	1						CGCTCCACCTCGGCAGCCTGC	0.612													T	42772008	C	T	42772008	3	4	193	1	0	0	0	0	1	0	0	0	2765	893	31	1	494	1	CCDC13	3	42772008	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	527975	42772008	155250422	345	105578											
CYP8B1	1582	broad.mit.edu	37	chr3	42916909	42916909	+	Frame_Shift_Del	DEL	C	C	-													attaagatccttcaagccatCccccctcagatgcttggtgc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:42916908_42916908TC>T	uc003cmh.3	-	0	726	c.401_401GA>A	c.(400-402)gatfs	p.D134fs	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	134					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTTCAAGCCATCCCCCCTCAG	0.502													-	42916909	C	-	42916909	7	5	193	1	0	1	0	1	0	0	0	0	4198	855	30	0	1109	0	CYP8B1	3	42916909	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	144901	42916909	155105521	346	105579											
SACM1L	22908	broad.mit.edu	37	chr3	45745000	45745000	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgacgtacttaccattgacCgtgtgtccacagaggttacc	9	11	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:45745000C>G	uc003cos.2	+	2	307	c.103C>G	c.(103-105)CGT>GGT	p.R35G	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Silent_p.T11T	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	35						Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TACCATTGACCGTGTGTCCAC	0.338													G	45745000	C	G	45745000	3	3	193	1	0	0	0	0	1	0	0	0	13803	652	23	5	109	5	SACM1L	3	45745000	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2828091	45745000	152277430	347	105580											
FYCO1	79443	broad.mit.edu	37	chr3	46008705	46008705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagctgctgacactcGccctccttgctctgtagaat	8	16	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:46008705G>A	uc003cpb.3	-	8	2327	c.2121C>T	c.(2119-2121)GGC>GGT	p.G707G	FYCO1_uc011bal.1_Silent_p.G707G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	707	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGACACTCGCCCTCCTTGC	0.612													A	46008705	G	A	46008705	2	1	193	1	0	0	0	0	0	0	0	1	6125	1074	38	1		1	FYCO1	3	46008705	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	263705	46008705	152013725	348	105581											
ALS2CL	259173	broad.mit.edu	37	chr3	46722765	46722765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcaatgccatagccGctcctctggcccctctccca	5	21	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:46722765G>A	uc003cqa.1	-	13	1597	c.1407C>T	c.(1405-1407)AGC>AGT	p.S469S	ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Silent_p.S469S|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	469	MORN 5.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCCATAGCCGCTCCTCTGGC	0.667													A	46722765	G	A	46722765	2	1	193	1	0	0	0	0	0	0	0	1	551	1078	38	1		1	ALS2CL	3	46722765	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	714060	46722765	151299665	349	105582											
NBEAL2	23218	broad.mit.edu	37	chr3	47037248	47037248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaggccttcttcacggCggccgggaccctggtggtgg	17	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47037248C>T	uc003cqp.2	+	14	2122	c.1943C>T	c.(1942-1944)GCG>GTG	p.A648V	NBEAL2_uc010hjm.1_Missense_Mutation_p.A209V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	648							binding			ovary(1)	1		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)		TTCTTCACGGCGGCCGGGACC	0.597													T	47037248	C	T	47037248	3	4	193	1	0	0	0	0	1	0	0	0	10189	768	27	1	1997	1	NBEAL2	3	47037248	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	314483	47037248	150985182	350	105583											
SETD2	29072	broad.mit.edu	37	chr3	47103666	47103666	+	Frame_Shift_Del	DEL	T	T	-													cacttacctgtcatctggccTttttgttccccgctcatagg					rs36092203		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47103665_47103665CT>C	uc003cqv.3	-	14	6568	c.6482_6482AG>G	c.(6481-6483)aggfs	p.R2161fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.R2094fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2094	Low charge region.|Pro-rich.				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)		GTCATCTGGCCTTTTTGTTCC	0.413			"N, F, S, Mis"		clear cell renal carcinoma								-	47103666	T	-	47103666	7	5	193	1	0	1	0	1	0	0	0	0	14131	1608	56	0	1446	0	SETD2	3	47103666	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	66418	47103666	150918764	351	105584											
PTPN23	25930	broad.mit.edu	37	chr3	47452322	47452322	+	Frame_Shift_Del	DEL	C	C	-													gggtcctggggcagccgccaCcccccctacacacccagctc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47452321_47452321AC>A	uc003crf.1	+	19	3129	c.3033_3033AC>A	c.(3031-3033)ccafs	p.P1011fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.P976fs|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Frame_Shift_Del_p.P881fs	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1011	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.L1014fs*68(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGCCGCCACCCCCCCTAC	0.687													-	47452322	C	-	47452322	7	5	193	1	0	1	0	1	0	0	0	0	12788	507	18	0	3112	0	PTPN23	3	47452322	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	348656	47452322	150570108	352	105585											
SMARCC1	6599	broad.mit.edu	37	chr3	47677559	47677559	+	Frame_Shift_Del	DEL	T	T	-													tatcctgttccttttcactaTttttttcattttctccatct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:47677558_47677558AT>A	uc003crq.2	-	22	2563	c.2445_2445AT>T	c.(2443-2445)aatfs	p.N815fs	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Frame_Shift_Del_p.N706fs	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	815	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	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)		CCTTTTCACTATTTTTTTCAT	0.358													-	47677559	T	-	47677559	7	5	193	1	0	1	0	1	0	0	0	0	14775	1493	52	0	897	0	SMARCC1	3	47677559	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	225237	47677559	150344871	353	105586											
FBXW12	285231	broad.mit.edu	37	chr3	48422396	48422396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactggaggccaaacagtcAtccaaggtaggctgtgccac	12	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:48422396A>G	uc003csr.2	+	8	1165	c.979A>G	c.(979-981)ATC>GTC	p.I327V	FBXW12_uc010hjv.2_Missense_Mutation_p.I308V|FBXW12_uc003css.2_Missense_Mutation_p.I257V|FBXW12_uc010hjw.2_Missense_Mutation_p.I226V	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12 isoform	327	WD 4.										0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAAACAGTCATCCAAGGTAG	0.413													G	48422396	A	G	48422396	3	3	193	1	0	0	0	0	1	0	0	0	5765	217	8	3	1042	3	FBXW12	3	48422396	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	744837	48422396	149600034	354	105587											
COL7A1	1294	broad.mit.edu	37	chr3	48619157	48619157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgttccccttggactccGgtagctcctctgggcccagc	10	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:48619157G>A	uc003ctz.2	-	48	4705	c.4704C>T	c.(4702-4704)ACC>ACT	p.T1568T	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1568	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGGACTCCGGTAGCTCCTC	0.587													A	48619157	G	A	48619157	2	1	193	1	0	0	0	0	0	0	0	1	3704	1103	39	1		1	COL7A1	3	48619157	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	196761	48619157	149403273	355	105588											
BSN	8927	broad.mit.edu	37	chr3	49680130	49680130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagctcttcggccttggcGcgtcactgctaacccaggcg	12	14	2	0	rs148125466	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:49680130G>A	uc003cxe.3	+	3	1177	c.1063G>A	c.(1063-1065)GCG>ACG	p.A355T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	355					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGCCTTGGCGCGTCACTGCT	0.657													A	49680130	G	A	49680130	3	1	193	1	0	0	0	0	1	0	0	0	1530	1087	38	1	1073	1	BSN	3	49680130	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1060973	49680130	148342300	356	105589											
HYAL3	8372	broad.mit.edu	37	chr3	50330907	50330907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgatcacataggggcccaAggtgtccaccaggtagtcat	11	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:50330907A>C	uc003czd.1	-	4	1297	c.1024T>G	c.(1024-1026)TTG>GTG	p.L342V	HYAL3_uc003czc.1_Missense_Mutation_p.L312V|HYAL3_uc003cze.1_Missense_Mutation_p.L93V|HYAL3_uc003czf.1_Missense_Mutation_p.L63V|HYAL3_uc003czg.1_Missense_Mutation_p.L312V|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	342					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TAGGGGCCCAAGGTGTCCACC	0.582													C	50330907	A	C	50330907	3	2	193	1	0	0	0	0	1	0	0	0	7465	69	3	5	233	5	HYAL3	3	50330907	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	650777	50330907	147691523	357	105590											
RBM15B	29890	broad.mit.edu	37	chr3	51430740	51430742	+	In_Frame_Del	DEL	AGG	AGG	-													cacccctgagcgcagccgcaAggagaaccactccagtgaag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:51430740_51430742delAGG	uc003dbd.2	+	1	2010_2012	c.1910_1912delAGG	c.(1909-1914)AAGGAG>AAG	p.E638del		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	638					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				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCAGCCGCAAGGAGAACCACTC	0.631													-	51430742	AGG	-	51430740	7	5	193	1	0	1	0	1	0	0	0	0	13117	72	3	0	1912	0	RBM15B	3	51430740	In_Frame_Del	DEL	AGG	TCGA-CG-5726-01A-11D-1600-08	1099833	51430740	146591690	358	105591											
RAD54L2	23132	broad.mit.edu	37	chr3	51664851	51664851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcttaaaccagcgtgaCgcccttgggcgggtccttgt	13	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:51664851C>T	uc011bdt.1	+	6	854	c.729C>T	c.(727-729)GAC>GAT	p.D243D	RAD54L2_uc003dbh.2_Translation_Start_Site|RAD54L2_uc011bdu.1_Translation_Start_Site|RAD54L2_uc003dbj.2_Translation_Start_Site	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	243						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ACCAGCGTGACGCCCTTGGGC	0.522													T	51664851	C	T	51664851	2	4	193	1	0	0	0	0	0	0	0	1	12994	535	19	1		1	RAD54L2	3	51664851	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	234111	51664851	146357579	359	105592											
TEX264	51368	broad.mit.edu	37	chr3	51733548	51733548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagacagagtggaaatggCgggggcttgtggaggccatt	19	5	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:51733548C>T	uc010hls.2	+	5	776	c.607C>T	c.(607-609)CGG>TGG	p.R203W	TEX264_uc003dbk.3_Missense_Mutation_p.R203W|TEX264_uc010hlt.2_Missense_Mutation_p.R23W|TEX264_uc003dbl.3_Missense_Mutation_p.R203W|TEX264_uc003dbm.3_Missense_Mutation_p.R242W	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	203						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GTGGAAATGGCGGGGGCTTGT	0.577													T	51733548	C	T	51733548	3	4	193	1	0	0	0	0	1	0	0	0	15780	759	27	1	617	1	TEX264	3	51733548	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	68697	51733548	146288882	360	105593											
TLR9	54106	broad.mit.edu	37	chr3	52257576	52257576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagcggcggcaatttccGcccacatcgagcacacgcag	11	16	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52257576G>A	uc003dda.1	-	2	1390	c.756C>T	c.(754-756)GGC>GGT	p.G252G	TLR9_uc003ddb.2_Silent_p.G349G	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	252	LRR 8.|Extracellular (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GGCAATTTCCGCCCACATCGA	0.622													A	52257576	G	A	52257576	2	1	193	1	0	0	0	0	0	0	0	1	15955	1074	38	1		1	TLR9	3	52257576	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	524028	52257576	145764854	361	105594											
DNAH1	25981	broad.mit.edu	37	chr3	52378637	52378639	+	In_Frame_Del	DEL	AGG	AGG	-													ctacgtcaccctccccaagaAggaggaggagcaggtgcctg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52378636_52378638AAGG>A	uc011bef.2	+	8	1678_1680	c.1417_1419AAGG>A	c.(1417-1419)aag>A	p.K473del	DNAH1_uc003ddt.1_In_Frame_Del_p.K473del	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	473	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)		CCTCCCCAAGAAGGAGGAGGAGC	0.596													-	52378639	AGG	-	52378637	7	5	193	1	0	1	0	1	0	0	0	0	4597	72	3	0	1448	0	DNAH1	3	52378637	In_Frame_Del	DEL	AGG	TCGA-CG-5726-01A-11D-1600-08	121061	52378637	145643793	362	105595											
GLT8D1	55830	broad.mit.edu	37	chr3	52731828	52731828	+	Frame_Shift_Del	DEL	C	C	-													gctgtttatagctgcaatggCccccccaagcctgtcttcag					rs115960994	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52731828delC	uc003dfi.3	-	4	377	c.238delG	c.(238-240)GCCfs	p.A80fs	GLT8D1_uc003dfj.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfk.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfl.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfm.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfn.2_Frame_Shift_Del_p.A80fs|GLT8D1_uc003dfo.1_Frame_Shift_Del_p.A80fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	80	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGCAATGGCCCCCCCAAGC	0.483													-	52731828	C	-	52731828	7	5	193	1	0	1	0	1	0	0	0	0	6469	739	26	0	905	0	GLT8D1	3	52731828	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	353191	52731828	145290602	363	105596											
SFMBT1	51460	broad.mit.edu	37	chr3	52945098	52945098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgaagaggttaggacaGcattccagtttgatacaggt	13	7	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:52945098G>A	uc003dgf.2	-	18	2396	c.1827C>T	c.(1825-1827)TGC>TGT	p.C609C	SFMBT1_uc010hmr.2_Silent_p.C556C|SFMBT1_uc003dgg.2_Silent_p.C609C|SFMBT1_uc003dgh.2_Silent_p.C609C	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	609					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		GGTTAGGACAGCATTCCAGTT	0.433													A	52945098	G	A	52945098	2	1	193	1	0	0	0	0	0	0	0	1	14157	963	34	2		2	SFMBT1	3	52945098	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	213270	52945098	145077332	364	105597											
CACNA2D3	55799	broad.mit.edu	37	chr3	54922040	54922040	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtggtgagtgcccccaTtgaagcgtattggaccagcc	14	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:54922040T>A	uc003dhf.2	+	24	2159	c.2111T>A	c.(2110-2112)ATT>AAT	p.I704N	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.I610N|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	704	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGTGCCCCCATTGAAGCGTAT	0.507													A	54922040	T	A	54922040	3	1	193	1	0	0	0	0	1	0	0	0	2550	1493	52	5	2205	5	CACNA2D3	3	54922040	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1976942	54922040	143100390	365	105598											
CCDC66	285331	broad.mit.edu	37	chr3	56597857	56597857	+	Frame_Shift_Del	DEL	A	A	-													aacatcacaggcaaaaggtgAaaaaaatggaatgacttttt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:56597857delA	uc003dhz.2	+	4	335	c.248delA	c.(247-249)GAAfs	p.E83fs	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Frame_Shift_Del_p.E49fs|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Frame_Shift_Del_p.E83fs	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	83										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCAAAAGGTGAAAAAAATGGA	0.358													-	56597857	A	-	56597857	7	5	193	1	0	1	0	1	0	0	0	0	2838	246	9	0	262	0	CCDC66	3	56597857	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1675817	56597857	141424573	366	105599											
C3orf63	23272	broad.mit.edu	37	chr3	56675690	56675690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaccaattaaacagcctaTggatgtcagcaatgccggag	9	9	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:56675690T>C	uc003did.3	-	15	2407	c.2306A>G	c.(2305-2307)CAT>CGT	p.H769R	C3orf63_uc003dic.3_Missense_Mutation_p.H373R|C3orf63_uc003die.3_Missense_Mutation_p.H769R	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	769										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		AAACAGCCTATGGATGTCAGC	0.473													C	56675690	T	C	56675690	3	2	193	1	0	0	0	0	1	0	0	0	2239	1464	51	3	2806	3	C3orf63	3	56675690	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	77833	56675690	141346740	367	105600											
DNAH12	201625	broad.mit.edu	37	chr3	57528532	57528532	+	Frame_Shift_Del	DEL	G	G	-													ttttctgggagatggacaatGgggggtaacttcaagttcag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:57528532delG	uc003dit.2	-	2	247	c.66delC	c.(64-66)CCCfs	p.P22fs	DNAH12_uc003diu.2_Frame_Shift_Del_p.P22fs	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	22	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						GATGGACAATGGGGGGTAACT	0.413													-	57528532	G	-	57528532	7	5	193	1	0	1	0	1	0	0	0	0	4600	1335	47	0	9487	0	DNAH12	3	57528532	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	852842	57528532	140493898	368	105601											
FLNB	2317	broad.mit.edu	37	chr3	58121816	58121816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatgattggagtcacctaCgggggtgacgacatcccact	11	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:58121816C>T	uc003djj.2	+	28	4947	c.4782C>T	c.(4780-4782)TAC>TAT	p.Y1594Y	FLNB_uc010hne.2_Silent_p.Y1625Y|FLNB_uc003djk.2_Silent_p.Y1594Y|FLNB_uc010hnf.2_Silent_p.Y1594Y|FLNB_uc003djl.2_Silent_p.Y1425Y|FLNB_uc003djm.2_Silent_p.Y1425Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1594	Filamin 14.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTCACCTACGGGGGTGACG	0.537													T	58121816	C	T	58121816	2	4	193	1	0	0	0	0	0	0	0	1	5934	547	19	1		1	FLNB	3	58121816	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	593284	58121816	139900614	369	105602											
FAM3D	131177	broad.mit.edu	37	chr3	58631238	58631238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttaggtacttacatGcggtcttcaaagcacatagt	9	8	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:58631238G>A	uc003dkq.2	-	5	558	c.261C>T	c.(259-261)CGC>CGT	p.R87R		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	87					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTACTTACATGCGGTCTTCAA	0.438													A	58631238	G	A	58631238	2	1	193	1	0	0	0	0	0	0	0	1	5559	1306	46	2		2	FAM3D	3	58631238	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	509422	58631238	139391192	370	105603											
SLC25A26	115286	broad.mit.edu	37	chr3	66428192	66428192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcttatgaccgaacGcacagcttgctgttggaagt	14	9	0	1	rs147162139		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:66428192G>A	uc011bfq.1	+	11	1514	c.786G>A	c.(784-786)ACG>ACA	p.T262T	SLC25A26_uc011bfs.1_Silent_p.T174T|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Silent_p.T262T|SLC25A26_uc003dmt.2_3'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	262	Solcar 3.					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		ATGACCGAACGCACAGCTTGC	0.502													A	66428192	G	A	66428192	2	1	193	1	0	0	0	0	0	0	0	1	14489	1074	38	1		1	SLC25A26	3	66428192	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7796954	66428192	131594238	371	105604											
ROBO2	6092	broad.mit.edu	37	chr3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C													ggccaatgtccctctacctcINScccccccagtccagcccctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					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	p.V1079fs*22(2)|p.V1095fs*22(1)		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)		TCCCTCTACCTCCCCCCCCAGT	0.431													C	77657039	-	C	77657038	7	5	193	1	0	1	1	0	0	0	0	0	13514	855	30	0	3310	0	ROBO2	3	77657038	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	11228846	77657038	120365392	372	105605											
ROBO1	6091	broad.mit.edu	37	chr3	78710235	78710235	+	Frame_Shift_Del	DEL	A	A	-													tctgctccttgaaattcattAaaaaaagggcgagccttaat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:78710235delA	uc003dqe.2	-	16	2473	c.2265delT	c.(2263-2265)TTTfs	p.F755fs	ROBO1_uc003dqb.2_Frame_Shift_Del_p.F716fs|ROBO1_uc003dqc.2_Frame_Shift_Del_p.F719fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.F719fs|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Frame_Shift_Del_p.F327fs|ROBO1_uc003dqf.1_Frame_Shift_Del_p.F434fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	755	Extracellular (Potential).|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			large_intestine(2)	2		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)		GAAATTCATTAAAAAAAGGGC	0.398													-	78710235	A	-	78710235	7	5	193	1	0	1	0	1	0	0	0	0	13513	359	13	0	2754	0	ROBO1	3	78710235	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1053197	78710235	119312195	373	105606											
PROS1	5627	broad.mit.edu	37	chr3	93611853	93611853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcattcttaagctgaactTcaatctttccaccacgaagt	5	11	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:93611853T>A	uc003drb.3	-	10	1420	c.1079A>T	c.(1078-1080)GAA>GTA	p.E360V	PROS1_uc010hoo.2_Missense_Mutation_p.E229V|PROS1_uc003dqz.3_Missense_Mutation_p.E229V	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	360	Laminin G-like 1.				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			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AAGCTGAACTTCAATCTTTCC	0.393													A	93611853	T	A	93611853	3	1	193	1	0	0	0	0	1	0	0	0	12558	1783	62	5	975	5	PROS1	3	93611853	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	14901618	93611853	104410577	374	105607											
STX19	415117	broad.mit.edu	37	chr3	93733837	93733837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctcctttgtaatggTagactctctcttaagtagac	6	8	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:93733837T>C	uc003drh.1	-	2	534	c.277A>G	c.(277-279)ACC>GCC	p.T93A	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	93					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0						TTTGTAATGGTAGACTCTCTC	0.338													C	93733837	T	C	93733837	3	2	193	1	0	0	0	0	1	0	0	0	15341	1638	57	3	611	3	STX19	3	93733837	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	121984	93733837	104288593	375	105608											
OR5K2	402135	broad.mit.edu	37	chr3	98216757	98216757	+	Frame_Shift_Del	DEL	C	C	-													ttgctgtgcctgtgctattaCccccaaaatgttagagaact							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:98216757delC	uc011bgx.1	+	1	233	c.233delC	c.(232-234)ACCfs	p.T78fs		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TGTGCTATTACCCCCAAAATG	0.428													-	98216757	C	-	98216757	7	5	193	1	0	1	0	1	0	0	0	0	11167	507	18	0	235	0	OR5K2	3	98216757	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	4482920	98216757	99805673	376	105609											
IMPG2	50939	broad.mit.edu	37	chr3	100972552	100972552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacataccagaatagatgaCggcgttgcctgaagacttga	10	8	0	6			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:100972552C>T	uc003duq.1	-	11	1430	c.1227G>A	c.(1225-1227)CCG>CCA	p.P409P	IMPG2_uc011bhe.1_Silent_p.P272P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	409	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAATAGATGACGGCGTTGCCT	0.403													T	100972552	C	T	100972552	2	4	193	1	0	0	0	0	0	0	0	1	7729	523	19	1		1	IMPG2	3	100972552	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2755795	100972552	97049878	377	105610											
SENP7	57337	broad.mit.edu	37	chr3	101044872	101044872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggtctttattacatgaCgaggaaaccacttctccaaa	7	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:101044872C>T	uc003dut.2	-	24	3179	c.3068G>A	c.(3067-3069)CGT>CAT	p.R1023H	SENP7_uc003duu.2_Missense_Mutation_p.R958H|SENP7_uc003duv.2_Missense_Mutation_p.R990H|SENP7_uc003duw.2_Missense_Mutation_p.R957H|SENP7_uc003dux.2_Missense_Mutation_p.R859H|SENP7_uc003dus.2_Missense_Mutation_p.R211H	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	1023	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TATTACATGACGAGGAAACCA	0.368													T	101044872	C	T	101044872	3	4	193	1	0	0	0	0	1	0	0	0	14051	536	19	1	88	1	SENP7	3	101044872	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	72320	101044872	96977558	378	105611											
SENP7	57337	broad.mit.edu	37	chr3	101083705	101083705	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcacatgtaatcaatggTagttctaacaatgctgattc	7	7	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:101083705T>C	uc003dut.2	-	10	1560	c.1449A>G	c.(1447-1449)CTA>CTG	p.L483L	SENP7_uc003duu.2_Silent_p.L418L|SENP7_uc003duv.2_Silent_p.L450L|SENP7_uc003duw.2_Silent_p.L417L|SENP7_uc003dux.2_Silent_p.L319L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	483					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TAATCAATGGTAGTTCTAACA	0.299													C	101083705	T	C	101083705	2	2	193	1	0	0	0	0	0	0	0	1	14051	1625	57	3		3	SENP7	3	101083705	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	38833	101083705	96938725	379	105612											
BOC	91653	broad.mit.edu	37	chr3	112991965	112991965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggtcatcccctggggCcagagtgccaagcttacctg	12	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:112991965C>T	uc003dzx.2	+	8	1632	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	BOC_uc003dzy.2_Silent_p.G337G|BOC_uc003dzz.2_Silent_p.G337G|BOC_uc003eab.2_Silent_p.G38G	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	337	Ig-like C2-type 4.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCCCCTGGGGCCAGAGTGCCA	0.642													T	112991965	C	T	112991965	2	4	193	1	0	0	0	0	0	0	0	1	1481	726	26	2		2	BOC	3	112991965	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	11908260	112991965	85030465	380	105613											
BOC	91653	broad.mit.edu	37	chr3	112999406	112999406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccattccctatagtAcatcccagcaagtaacaaca	3	14	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:112999406A>G	uc003dzx.2	+	14	2825	c.2204A>G	c.(2203-2205)TAC>TGC	p.Y735C	BOC_uc003dzy.2_Missense_Mutation_p.Y735C|BOC_uc003dzz.2_Missense_Mutation_p.Y736C|BOC_uc003eab.2_Missense_Mutation_p.Y436C|BOC_uc003eac.2_Missense_Mutation_p.Y50C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	735	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCCCTATAGTACATCCCAGCA	0.418													G	112999406	A	G	112999406	3	3	193	1	0	0	0	0	1	0	0	0	1481	405	14	3	2250	3	BOC	3	112999406	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	7441	112999406	85023024	381	105614											
KIAA2018	205717	broad.mit.edu	37	chr3	113378505	113378505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgatgaagacatcacaGgctgcaaagcaaagagctgt	10	9	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:113378505G>T	uc003eam.2	-	7	2435	c.2024C>A	c.(2023-2025)CCT>CAT	p.P675H	KIAA2018_uc003eal.2_Missense_Mutation_p.P619H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	675					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AGACATCACAGGCTGCAAAGC	0.398													T	113378505	G	T	113378505	3	4	193	1	0	0	0	0	1	0	0	0	8268	1000	35	5	4717	5	KIAA2018	3	113378505	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	379099	113378505	84643925	382	105615											
KIAA1407	57577	broad.mit.edu	37	chr3	113724812	113724813	+	Splice_Site	DEL	GA	GA	-													agggggcacagcagtctcctGagagagagaaacatgttata							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:113724811_113724812TGA>T	uc003eax.3	-	10	1561	c.1414_splice	c.e10-1	p.E472_splice	KIAA1407_uc011bin.1_Splice_Site|KIAA1407_uc011bio.1_Splice_Site_p.E450_splice|KIAA1407_uc011bip.1_Intron	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	472										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGCAGTCTCCTGAGAGAGAGAA	0.46													-	113724813	GA	-	113724812	8	5	193	1	0	1	0	1	0	0	1	0	8229	1305	45	0		0	KIAA1407	3	113724812	Splice_Site	DEL	GA	TCGA-CG-5726-01A-11D-1600-08	346307	113724812	84297618	383	105616											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	193	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	333191	114058003	83964427	384	105617											
GOLGB1	2804	broad.mit.edu	37	chr3	121388136	121388136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagtgctgctggttctcacGaagactctgactggtatcgc	11	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:121388136G>A	uc003eei.3	-	18	9355	c.9229C>T	c.(9229-9231)CGT>TGT	p.R3077C	GOLGB1_uc010hrc.2_Missense_Mutation_p.R3082C|GOLGB1_uc003eej.3_Missense_Mutation_p.R3043C	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3077	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TGGTTCTCACGAAGACTCTGA	0.483													A	121388136	G	A	121388136	3	1	193	1	0	0	0	0	1	0	0	0	6565	1058	37	1	570	1	GOLGB1	3	121388136	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7330133	121388136	76634294	385	105618											
KALRN	8997	broad.mit.edu	37	chr3	124413263	124413263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcaaagtctgtgggcGgccaaagcccaccatcactt	11	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:124413263G>A	uc003ehg.2	+	53	7617	c.7490G>A	c.(7489-7491)CGG>CAG	p.R2497Q	KALRN_uc003ehk.2_Missense_Mutation_p.R800Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2496	Ig-like C2-type.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTCTGTGGGCGGCCAAAGCCC	0.532													A	124413263	G	A	124413263	3	1	193	1	0	0	0	0	1	0	0	0	7975	1116	39	1	7856	1	KALRN	3	124413263	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3025127	124413263	73609167	386	105619											
ITGB5	3693	broad.mit.edu	37	chr3	124560272	124560272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcatcaaagcccccctcAggggcatctcggttccggga	11	15	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:124560272A>G	uc003eho.2	-	5	1035	c.738T>C	c.(736-738)CCT>CCC	p.P246P		NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	246	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		AGCCCCCCTCAGGGGCATCTC	0.572													G	124560272	A	G	124560272	2	3	193	1	0	0	0	0	0	0	0	1	7898	175	7	3		3	ITGB5	3	124560272	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	147009	124560272	73462158	387	105620											
SNX4	8723	broad.mit.edu	37	chr3	125176163	125176163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgctaagtcctgagcagCcatctccaagtcatactgca	9	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:125176163C>T	uc003eib.2	-	11	1033	c.991G>A	c.(991-993)GCT>ACT	p.A331T	SNX4_uc011bkf.1_Missense_Mutation_p.A186T	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	331					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TCCTGAGCAGCCATCTCCAAG	0.433													T	125176163	C	T	125176163	3	4	193	1	0	0	0	0	1	0	0	0	14904	739	26	2	377	2	SNX4	3	125176163	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	615891	125176163	72846267	388	105621											
PLXNA1	5361	broad.mit.edu	37	chr3	126741073	126741073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcctcgctcatcatgaCggccctgcagggcgagatgg	15	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:126741073C>T	uc003ejg.2	+	21	4119	c.4115C>T	c.(4114-4116)ACG>ATG	p.T1372M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1395	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTCATCATGACGGCCCTGCAG	0.607													T	126741073	C	T	126741073	3	4	193	1	0	0	0	0	1	0	0	0	12119	536	19	1	4266	1	PLXNA1	3	126741073	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1564910	126741073	71281357	389	105622											
PLXNA1	5361	broad.mit.edu	37	chr3	126747142	126747142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctgcctacaagggcgTgccctactcccagcggccca	12	17	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:126747142T>C	uc003ejg.2	+	24	4563	c.4559T>C	c.(4558-4560)GTG>GCG	p.V1520A	PLXNA1_uc003ejh.2_Missense_Mutation_p.V188A	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1543	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TACAAGGGCGTGCCCTACTCC	0.682													C	126747142	T	C	126747142	3	2	193	1	0	0	0	0	1	0	0	0	12119	1696	59	3	4722	3	PLXNA1	3	126747142	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	6069	126747142	71275288	390	105623											
COPG	22820	broad.mit.edu	37	chr3	128979597	128979597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgagagcagcatcgacCgcctcatgaagcagatctcc	11	14	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:128979597C>T	uc003els.2	+	12	1175	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C	COPG_uc010htb.2_Missense_Mutation_p.R265C	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	359	HEAT 4.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						CAGCATCGACCGCCTCATGAA	0.562													T	128979597	C	T	128979597	3	4	193	1	0	0	0	0	1	0	0	0	3731	652	23	1	1121	1	COPG	3	128979597	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2232455	128979597	69042833	391	105624											
PIK3R4	30849	broad.mit.edu	37	chr3	130435316	130435316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcgggaagagaaccatttCgtttcttctgacgcatgtga	11	8	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:130435316C>T	uc003enj.2	-	9	2836	c.2255G>A	c.(2254-2256)CGA>CAA	p.R752Q		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	752					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AGAACCATTTCGTTTCTTCTG	0.433													T	130435316	C	T	130435316	3	4	193	1	0	0	0	0	1	0	0	0	11921	884	31	1	1869	1	PIK3R4	3	130435316	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1455719	130435316	67587114	392	105625											
DNAJC13	23317	broad.mit.edu	37	chr3	132184906	132184906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaacaaacttgttgaaaCgcattttggtaagtcagttg	9	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:132184906C>T	uc003eor.2	+	18	2025	c.1960C>T	c.(1960-1962)CGC>TGC	p.R654C	DNAJC13_uc010htq.1_Missense_Mutation_p.R654C	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	654							heat shock protein binding			ovary(1)|breast(1)	2						CTTGTTGAAACGCATTTTGGT	0.353													T	132184906	C	T	132184906	3	4	193	1	0	0	0	0	1	0	0	0	4632	536	19	1	2026	1	DNAJC13	3	132184906	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1749590	132184906	65837524	393	105626											
GRK7	131890	broad.mit.edu	37	chr3	141497732	141497732	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggggaaaggtggtttTggggaggtaagtgtctccca	18	5	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:141497732T>G	uc011bnd.1	+	1	690	c.606T>G	c.(604-606)TTT>TTG	p.F202L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	202	ATP (By similarity).|Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AAGGTGGTTTTGGGGAGGTAA	0.463													G	141497732	T	G	141497732	3	3	193	1	0	0	0	0	1	0	0	0	6794	1809	63	5	608	5	GRK7	3	141497732	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	9312826	141497732	56524698	394	105627											
AADAC	13	broad.mit.edu	37	chr3	151545776	151545776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccctgacctatgtcatcaCctgtcaatatgatctcttaa	4	13	4	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:151545776C>A	uc003eze.2	+	5	1106	c.1016C>A	c.(1015-1017)ACC>AAC	p.T339N		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	339	Lumenal (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATGTCATCACCTGTCAATAT	0.468													A	151545776	C	A	151545776	3	1	193	1	0	0	0	0	1	0	0	0	10	507	18	5	1034	5	AADAC	3	151545776	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	10048044	151545776	46476654	395	105628											
DHX36	170506	broad.mit.edu	37	chr3	154022719	154022719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgactgcagatttctttcAtggatttcatcaagtacgat	7	8	5	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:154022719A>C	uc003ezy.3	-	8	1092	c.1011T>G	c.(1009-1011)CAT>CAG	p.H337Q	DHX36_uc010hvq.2_Missense_Mutation_p.H337Q|DHX36_uc003ezz.3_Missense_Mutation_p.H337Q	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	337	Helicase ATP-binding.|DEAH box.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTTCTTTCATGGATTTCAT	0.318													C	154022719	A	C	154022719	3	2	193	1	0	0	0	0	1	0	0	0	4509	214	8	5	2087	5	DHX36	3	154022719	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2476943	154022719	43999711	396	105629											
PLCH1	23007	broad.mit.edu	37	chr3	155222380	155222380	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcatgagggatcgtccAtgtgatttctttccactttc	9	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:155222380A>G	uc011bok.1	-	12	1909	c.1632T>C	c.(1630-1632)CAT>CAC	p.H544H	PLCH1_uc011boj.1_Silent_p.H544H|PLCH1_uc011bol.1_Silent_p.H526H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	544					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGGATCGTCCATGTGATTTCT	0.279													G	155222380	A	G	155222380	2	3	193	1	0	0	0	0	0	0	0	1	12037	214	8	3		3	PLCH1	3	155222380	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1199661	155222380	42800050	397	105630											
KCNAB1	7881	broad.mit.edu	37	chr3	155838427	155838427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccggacaggggcagcGgggagtcagatctcagagga	18	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:155838427G>A	uc003far.2	+	1	91	c.27G>A	c.(25-27)GCG>GCA	p.A9A	KCNAB1_uc011bon.1_Silent_p.A9A	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	9						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGGGGCAGCGGGGAGTCAGA	0.483													A	155838427	G	A	155838427	2	1	193	1	0	0	0	0	0	0	0	1	8009	1103	39	1		1	KCNAB1	3	155838427	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	616047	155838427	42184003	398	105631											
SERPINI2	5276	broad.mit.edu	37	chr3	167189546	167189546	+	Frame_Shift_Del	DEL	T	T	-													gatccactgcaaattcggtaTttttttgagctgagcatctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:167189545_167189545AT>A	uc003fes.1	-	1	179	c.108_108AT>T	c.(106-108)aatfs	p.N36fs	SERPINI2_uc003fer.1_Frame_Shift_Del_p.N26fs|SERPINI2_uc003fet.1_Frame_Shift_Del_p.N26fs	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	26					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.Q35Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CAAATTCGGTATTTTTTTGAG	0.363													-	167189546	T	-	167189546	7	5	193	1	0	1	0	1	0	0	0	0	14119	1493	52	0	1172	0	SERPINI2	3	167189546	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	11351119	167189546	30832884	399	105632											
EIF5A2	56648	broad.mit.edu	37	chr3	170625513	170625513	+	Frame_Shift_Del	DEL	T	T	-													ctttgagcaccacgaagccgTttttgcgcaaggccgagcac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:170625513delT	uc003fhd.2	-	2	213	c.83delA	c.(82-84)AACfs	p.N28fs		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	eIF-5A2 protein	28					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity				0	all_cancers(22;1.61e-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;9.8e-16)|Lung(28;4.28e-15)			CACGAAGCCGTTTTTGCGCAA	0.517													-	170625513	T	-	170625513	7	5	193	1	0	1	0	1	0	0	0	0	5042	1725	60	0	394	0	EIF5A2	3	170625513	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	3435967	170625513	27396917	400	105633											
TBL1XR1	79718	broad.mit.edu	37	chr3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-													catttgctgtgttttctccaTtttttgcagatccttgttgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:176769342delT	uc003fiw.3	-	5	637	c.377delA	c.(376-378)AATfs	p.N126fs	TBL1XR1_uc003fix.3_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	126					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			ovary(1)	1	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)			GTTTTCTCCATTTTTTGCAGA	0.418													-	176769342	T	-	176769342	7	5	193	1	0	1	0	1	0	0	0	0	15637	1493	52	0	1215	0	TBL1XR1	3	176769342	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	6143829	176769342	21253088	401	105634											
ACTL6A	86	broad.mit.edu	37	chr3	179298929	179298929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttcttttgttgtaggGgttatcaggaaacacaatgt	10	4	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:179298929G>A	uc003fjw.2	+	11	1120	c.947G>A	c.(946-948)GGG>GAG	p.G316E	ACTL6A_uc003fjx.2_Missense_Mutation_p.G274E|ACTL6A_uc003fjy.2_Missense_Mutation_p.G274E	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	316					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			ovary(1)	1	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)			TTGTTGTAGGGGTTATCAGGA	0.388													A	179298929	G	A	179298929	3	1	193	1	0	0	0	0	1	0	0	0	198	1246	43	4	989	4	ACTL6A	3	179298929	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2529587	179298929	18723501	402	105635											
ABCC5	10057	broad.mit.edu	37	chr3	183685490	183685490	+	Frame_Shift_Del	DEL	A	A	-													acaaaaatcttacctggcctAaaatggctgaaatgagagag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:183685490delA	uc003fmg.2	-	12	1991	c.1826delT	c.(1825-1827)TTAfs	p.L609fs	ABCC5_uc011bqt.1_Frame_Shift_Del_p.L137fs|ABCC5_uc010hxl.2_Frame_Shift_Del_p.L609fs	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	609	Helical; (Potential).|ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TACCTGGCCTAAAATGGCTGA	0.448													-	183685490	A	-	183685490	7	5	193	1	0	1	0	1	0	0	0	0	56	372	13	0	2563	0	ABCC5	3	183685490	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	4386561	183685490	14336940	403	105636											
CHRD	8646	broad.mit.edu	37	chr3	184105786	184105786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtgcccagcctgtgcGtgtcaaccccaccgactgct	11	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:184105786G>A	uc003fov.2	+	20	2765	c.2519G>A	c.(2518-2520)CGT>CAT	p.R840H	CHRD_uc003fow.2_Missense_Mutation_p.R470H|CHRD_uc003fox.2_Missense_Mutation_p.R840H|CHRD_uc003foy.2_Missense_Mutation_p.R470H|CHRD_uc010hyc.2_Missense_Mutation_p.R430H|CHRD_uc011brr.1_Missense_Mutation_p.R382H	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	840	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			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGCCTGTGCGTGTCAACCCC	0.617													A	184105786	G	A	184105786	3	1	193	1	0	0	0	0	1	0	0	0	3372	1145	40	1	2597	1	CHRD	3	184105786	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	420296	184105786	13916644	404	105637											
TMEM41A	90407	broad.mit.edu	37	chr3	185212518	185212519	+	Frame_Shift_Ins	INS	-	-	A													aagtctcaaaaacaataagaINSaaaaaaacaagctgtttctg					rs150885877	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:185212517_185212518G>GA	uc003fpj.2	-	3	563_564	c.467_468C>TC	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													A	185212519	-	A	185212518	7	5	193	1	0	1	1	0	0	0	0	0	16161	246	9	0	335	0	TMEM41A	3	185212518	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1106732	185212518	12809912	405	105638											
RTP1	132112	broad.mit.edu	37	chr3	186917755	186917755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaagtcgcaggaccagaCgggctcaggctggaacttct	12	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:186917755C>T	uc003frg.2	+	2	719	c.689C>T	c.(688-690)ACG>ATG	p.T230M		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	230	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAGGACCAGACGGGCTCAGGC	0.617													T	186917755	C	T	186917755	3	4	193	1	0	0	0	0	1	0	0	0	13733	536	19	1	695	1	RTP1	3	186917755	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1705237	186917755	11104675	406	105639											
LPP	4026	broad.mit.edu	37	chr3	188426170	188426170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggaaaatccacctgctgAcgaatactttggtgagtggg	12	8	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:188426170A>G	uc003frs.1	+	7	1475	c.1229A>G	c.(1228-1230)GAC>GGC	p.D410G	LPP_uc011bsg.1_Missense_Mutation_p.D263G|LPP_uc011bsi.1_Missense_Mutation_p.D410G|LPP_uc003frt.2_Missense_Mutation_p.D410G|LPP_uc011bsj.1_Missense_Mutation_p.D247G	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	410					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	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)		CCACCTGCTGACGAATACTTT	0.478			T	HMGA2|MLL|C12orf9	lipoma|leukemia								G	188426170	A	G	188426170	3	3	193	1	0	0	0	0	1	0	0	0	8923	275	10	3	1247	3	LPP	3	188426170	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1508415	188426170	9596260	407	105640											
DLG1	1739	broad.mit.edu	37	chr3	196857450	196857450	+	Frame_Shift_Del	DEL	T	T	-													ttcatatacatacttgtgggTtttgccactttcaaataaac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:196857450delT	uc003fxo.3	-	12	1402	c.1212delA	c.(1210-1212)AAAfs	p.K404fs	DLG1_uc011bub.1_Frame_Shift_Del_p.K288fs|DLG1_uc011buc.1_Frame_Shift_Del_p.K288fs|DLG1_uc011bud.1_Frame_Shift_Del_p.K87fs|DLG1_uc003fxn.3_Frame_Shift_Del_p.K404fs|DLG1_uc011bue.1_Frame_Shift_Del_p.K371fs|DLG1_uc010ial.2_Frame_Shift_Del_p.K404fs|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Frame_Shift_Del_p.K371fs|DLG1_uc010ian.2_Frame_Shift_Del_p.K271fs	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	404	PDZ 2.				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			ovary(3)	3	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)		TACTTGTGGGTTTTGCCACTT	0.338													-	196857450	T	-	196857450	7	5	193	1	0	1	0	1	0	0	0	0	4554	1722	60	0	1666	0	DLG1	3	196857450	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	8431280	196857450	1164980	408	105641											
LRCH3	84859	broad.mit.edu	37	chr3	197553878	197553878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatccactacaatcacctcCtgcacaggtaaaccatagtg	5	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:197553878C>A	uc011bul.1	+	5	775	c.770C>A	c.(769-771)CCT>CAT	p.P257H	LRCH3_uc003fyj.1_Missense_Mutation_p.P257H|LRCH3_uc011bum.1_Missense_Mutation_p.P257H|LRCH3_uc011bun.1_Missense_Mutation_p.P131H|LRCH3_uc003fyk.2_5'Flank	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	257	LRR 8.					extracellular region				ovary(1)	1	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)		CAATCACCTCCTGCACAGGTA	0.463													A	197553878	C	A	197553878	3	1	193	1	0	0	0	0	1	0	0	0	8934	681	24	5	788	5	LRCH3	3	197553878	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	696428	197553878	468552	409	105642											
LMLN	89782	broad.mit.edu	37	chr3	197703560	197703560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacacaaagtgcggccccGttattgttcctgaggaacat	9	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:197703560G>A	uc011buo.1	+	5	545	c.523G>A	c.(523-525)GTT>ATT	p.V175I	LMLN_uc003fyt.2_Missense_Mutation_p.V123I|LMLN_uc010iar.2_Missense_Mutation_p.V175I|LMLN_uc010ias.2_Missense_Mutation_p.V123I|LMLN_uc003fyu.2_5'UTR	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	175					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	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)		GTGCGGCCCCGTTATTGTTCC	0.483													A	197703560	G	A	197703560	3	1	193	1	0	0	0	0	1	0	0	0	8847	1145	40	1	541	1	LMLN	3	197703560	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	149682	197703560	318870	410	105643											
LMLN	89782	broad.mit.edu	37	chr3	197751646	197751646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttacccagactggggaaGcggatgctatcaggtaagct	14	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr3:197751646G>A	uc011buo.1	+	14	1665	c.1643G>A	c.(1642-1644)AGC>AAC	p.S548N	LMLN_uc003fyt.2_Missense_Mutation_p.S533N|LMLN_uc010iar.2_Missense_Mutation_p.S585N|LMLN_uc010ias.2_Missense_Mutation_p.S496N|LMLN_uc003fyu.2_Missense_Mutation_p.S345N	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	548					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	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)		GACTGGGGAAGCGGATGCTAT	0.353													A	197751646	G	A	197751646	3	1	193	1	0	0	0	0	1	0	0	0	8847	971	34	2	1812	2	LMLN	3	197751646	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	48086	197751646	270784	411	105644											
TACC3	10460	broad.mit.edu	37	chr4	1729454	1729454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacagctcatcaaggaaGtggatgccaaaactactcat	8	11	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:1729454G>A	uc003gdo.2	+	4	433	c.325G>A	c.(325-327)GTG>ATG	p.V109M	TACC3_uc010ibz.2_Missense_Mutation_p.V109M|TACC3_uc003gdp.2_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	109						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CATCAAGGAAGTGGATGCCAA	0.448													A	1729454	G	A	1729454	3	1	193	1	0	0	0	0	1	0	0	0	15500	1029	36	4	335	4	TACC3	4	1729454	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08		1729454	189424822	412	105645											
WHSC1	7468	broad.mit.edu	37	chr4	1941423	1941423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtaaaccactgaagaagcGaaatcgggcttccacggcag	11	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:1941423G>A	uc003gdz.3	+	9	1975	c.1799G>A	c.(1798-1800)CGA>CAA	p.R600Q	WHSC1_uc003geb.3_Missense_Mutation_p.R600Q|WHSC1_uc003gec.3_Missense_Mutation_p.R600Q|WHSC1_uc003ged.3_Missense_Mutation_p.R600Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc003gdy.1_Missense_Mutation_p.R600Q|WHSC1_uc010icd.1_Missense_Mutation_p.R600Q|WHSC1_uc003gea.1_Missense_Mutation_p.R600Q|WHSC1_uc010ice.1_Missense_Mutation_p.R600Q|WHSC1_uc003geh.1_Missense_Mutation_p.R600Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	600					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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTGAAGAAGCGAAATCGGGCT	0.358			T	IGH@	MM								A	1941423	G	A	1941423	3	1	193	1	0	0	0	0	1	0	0	0	17359	1058	37	1	1829	1	WHSC1	4	1941423	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	211969	1941423	189212853	413	105646											
HTT	3064	broad.mit.edu	37	chr4	3182362	3182362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcaatgttactgagacTcatccagtaccatcaggtaa	9	9	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3182362T>C	uc011bvq.1	+	37	4884	c.4739T>C	c.(4738-4740)CTC>CCC	p.L1580P		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1578					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTACTGAGACTCATCCAGTAC	0.438													C	3182362	T	C	3182362	3	2	193	1	0	0	0	0	1	0	0	0	7457	1551	54	3	4875	3	HTT	4	3182362	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1240939	3182362	187971914	414	105647											
RGS12	6002	broad.mit.edu	37	chr4	3429895	3429895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaaaccactcggctaCggtaattccccaccctggcc	7	18	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3429895C>T	uc003ggw.2	+	15	4314	c.3410C>T	c.(3409-3411)ACG>ATG	p.T1137M	RGS12_uc003ggv.2_Missense_Mutation_p.T1137M|RGS12_uc003ggy.1_Missense_Mutation_p.T535M|RGS12_uc003ggz.2_Missense_Mutation_p.T489M|RGS12_uc010icu.1_Missense_Mutation_p.T336M|RGS12_uc011bvs.1_Missense_Mutation_p.T479M|RGS12_uc003gha.2_Missense_Mutation_p.T479M|RGS12_uc010icv.2_Missense_Mutation_p.T336M|RGS12_uc003ghb.2_Missense_Mutation_p.T336M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1137						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACTCGGCTACGGTAATTCCC	0.557													T	3429895	C	T	3429895	3	4	193	1	0	0	0	0	1	0	0	0	13295	550	19	1	3522	1	RGS12	4	3429895	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	247533	3429895	187724381	415	105648											
HGFAC	3083	broad.mit.edu	37	chr4	3449219	3449219	+	Splice_Site	DEL	C	C	-													ctccagccccccttgcacagCccccccagggacagcgtctc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3449218_3449218GC>G	uc003ghc.3	+	11	1359	c.1356_splice	c.e11-1	p.S452_splice	HGFAC_uc010icw.3_Splice_Site_p.S459_splice	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	452	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R455fs*91(1)		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)		CCCTTGCACAGCCCCCCCAGG	0.677													-	3449219	C	-	3449219	8	5	193	1	0	1	0	1	0	0	1	0	7086	753	26	0	1398	0	HGFAC	4	3449219	Splice_Site	DEL	C	TCGA-CG-5726-01A-11D-1600-08	19324	3449219	187705057	416	105649											
DOK7	285489	broad.mit.edu	37	chr4	3487306	3487306	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcggccgagggggagcaGatcagcttcctgttcgactg	14	12	1	1	rs146277586		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:3487306G>A	uc003ghd.2	+	5	643	c.573G>A	c.(571-573)CAG>CAA	p.Q191Q	DOK7_uc003ghe.2_Silent_p.Q53Q|DOK7_uc003ghf.2_5'UTR	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	191	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGGGGGAGCAGATCAGCTTCC	0.672													A	3487306	G	A	3487306	2	1	193	1	0	0	0	0	0	0	0	1	4702	942	33	4		4	DOK7	4	3487306	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	38087	3487306	187666970	417	105650											
OTOP1	133060	broad.mit.edu	37	chr4	4199303	4199303	+	Frame_Shift_Del	DEL	G	G	-													caggttgtaccaggtgtagcGggggtggccctcagcacaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:4199303delG	uc003ghp.1	-	5	1288	c.1258delC	c.(1258-1260)CGCfs	p.R420fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	420					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGGTGTAGCGGGGGTGGCCC	0.572													-	4199303	G	-	4199303	7	5	193	1	0	1	0	1	0	0	0	0	11305	1116	39	0	588	0	OTOP1	4	4199303	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	711997	4199303	186954973	418	105651											
CRMP1	1400	broad.mit.edu	37	chr4	5838577	5838577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagttgtccttgcccaccGccttctgggcagtgctgtag	11	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:5838577G>A	uc003gip.2	-	11	1126	c.1025C>T	c.(1024-1026)GCG>GTG	p.A342V	CRMP1_uc003gin.1_Missense_Mutation_p.A254V|CRMP1_uc003giq.2_Missense_Mutation_p.A342V|CRMP1_uc003gir.2_Missense_Mutation_p.A337V|CRMP1_uc003gis.2_Missense_Mutation_p.A456V	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	342					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CTTGCCCACCGCCTTCTGGGC	0.577													A	5838577	G	A	5838577	3	1	193	1	0	0	0	0	1	0	0	0	3890	1087	38	1	713	1	CRMP1	4	5838577	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1639274	5838577	185315699	419	105652											
HTRA3	94031	broad.mit.edu	37	chr4	8293275	8293275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacatggactacatccagaCggatgccatcatcaacgtga	9	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:8293275C>T	uc003gla.2	+	4	1091	c.887C>T	c.(886-888)ACG>ATG	p.T296M	HTRA3_uc003gkz.2_Missense_Mutation_p.T296M	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	296	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						TACATCCAGACGGATGCCATC	0.632													T	8293275	C	T	8293275	3	4	193	1	0	0	0	0	1	0	0	0	7455	536	19	1	901	1	HTRA3	4	8293275	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2454698	8293275	182861001	420	105653											
ACOX3	8310	broad.mit.edu	37	chr4	8394073	8394073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctactggccagatagccGtgtcctccacacgcctcccg	8	18	0	1	rs148695498		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:8394073G>A	uc010idk.2	-	11	1432	c.1287C>T	c.(1285-1287)CAC>CAT	p.H429H	ACOX3_uc003glc.3_Silent_p.H429H|ACOX3_uc003gld.3_Silent_p.H429H|ACOX3_uc003gle.1_Silent_p.H334H	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	429					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			central_nervous_system(1)	1						CCAGATAGCCGTGTCCTCCAC	0.517													A	8394073	G	A	8394073	2	1	193	1	0	0	0	0	0	0	0	1	160	1136	40	1		1	ACOX3	4	8394073	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	100798	8394073	182760203	421	105654											
DHX15	1665	broad.mit.edu	37	chr4	24542527	24542527	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttcttcaattgtaacacAactgatcctaaattagaacg	5	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:24542527A>G	uc003gqx.2	-	9	1698	c.1530T>C	c.(1528-1530)GTT>GTC	p.V510V	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	510	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				ATTGTAACACAACTGATCCTA	0.328													G	24542527	A	G	24542527	2	3	193	1	0	0	0	0	0	0	0	1	4501	117	5	3		3	DHX15	4	24542527	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	16148454	24542527	166611749	422	105655											
PCDH7	5099	broad.mit.edu	37	chr4	30724436	30724436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacctgcaccgtggtgggCgacgtgcccttccagctcaa	12	15	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:30724436C>T	uc003gsk.1	+	1	2400	c.1392C>T	c.(1390-1392)GGC>GGT	p.G464G	PCDH7_uc011bxw.1_Silent_p.G417G|PCDH7_uc011bxx.1_Silent_p.G464G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	464	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CCGTGGTGGGCGACGTGCCCT	0.627													T	30724436	C	T	30724436	2	4	193	1	0	0	0	0	0	0	0	1	11516	755	27	1		1	PCDH7	4	30724436	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6181909	30724436	160429840	423	105656											
RELL1	768211	broad.mit.edu	37	chr4	37636679	37636679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagacgtgcttccctggCgtcccccctggtgacaaagg	11	16	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:37636679C>T	uc003gsz.2	-	5	600	c.510G>A	c.(508-510)ACG>ACA	p.T170T	RELL1_uc010ifc.2_Silent_p.T170T	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	170	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						GCTTCCCTGGCGTCCCCCCTG	0.592													T	37636679	C	T	37636679	2	4	193	1	0	0	0	0	0	0	0	1	13218	755	27	1		1	RELL1	4	37636679	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6912243	37636679	153517597	424	105657											
RFC1	5981	broad.mit.edu	37	chr4	39328186	39328186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaaatgccaatacctcCgcatcttcatcaagctgtaa	5	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:39328186C>T	uc003gty.1	-	6	773	c.639G>A	c.(637-639)GCG>GCA	p.A213A	RFC1_uc003gtx.1_Silent_p.A213A|RFC1_uc003gtz.1_Silent_p.A97A	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	213					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			ovary(2)|pancreas(1)|skin(1)	4						CCAATACCTCCGCATCTTCAT	0.358													T	39328186	C	T	39328186	2	4	193	1	0	0	0	0	0	0	0	1	13244	639	23	1		1	RFC1	4	39328186	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1691507	39328186	151826090	425	105658											
ATP8A1	10396	broad.mit.edu	37	chr4	42466947	42466947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaattagctgcctgcAggccttcattgccactgata	10	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:42466947A>C	uc003gwr.2	-	26	2703	c.2471T>G	c.(2470-2472)CTG>CGG	p.L824R	ATP8A1_uc003gwq.2_Missense_Mutation_p.L50R|ATP8A1_uc003gws.2_Missense_Mutation_p.L809R	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	824	Cytoplasmic (Potential).				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			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	AGCTGCCTGCAGGCCTTCATT	0.458													C	42466947	A	C	42466947	3	2	193	1	0	0	0	0	1	0	0	0	1192	188	7	5	1071	5	ATP8A1	4	42466947	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3138761	42466947	148687329	426	105659											
SPATA18	132671	broad.mit.edu	37	chr4	52951146	52951146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcccatttgcccccgtaGccaaattggtttaaacacgg	8	12	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:52951146G>A	uc003gzl.2	+	11	1822	c.1544G>A	c.(1543-1545)AGC>AAC	p.S515N	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.S483N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	515					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGCCCCCGTAGCCAAATTGGT	0.368													A	52951146	G	A	52951146	3	1	193	1	0	0	0	0	1	0	0	0	15002	971	34	2	1586	2	SPATA18	4	52951146	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	10484199	52951146	138203130	427	105660											
PDGFRA	5156	broad.mit.edu	37	chr4	55143602	55143602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtggttgaaggaacaGcctatggattaagccggtcc	15	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:55143602G>A	uc003han.3	+	13	2165	c.1834G>A	c.(1834-1836)GCC>ACC	p.A612T	PDGFRA_uc003haa.2_Missense_Mutation_p.A372T|PDGFRA_uc010igq.1_Missense_Mutation_p.A506T|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	612	Protein kinase.|Cytoplasmic (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	TGAAGGAACAGCCTATGGATT	0.507			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			A	55143602	G	A	55143602	3	1	193	1	0	0	0	0	1	0	0	0	11661	971	34	2	1880	2	PDGFRA	4	55143602	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2192456	55143602	136010674	428	105661											
KIAA1211	57482	broad.mit.edu	37	chr4	57181050	57181050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacccagaggccgagcggcGaagagagcagcagggaagga	18	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:57181050G>A	uc003hbk.2	+	8	1773	c.1382G>A	c.(1381-1383)CGA>CAA	p.R461Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R454Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R371Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R347Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	461	Glu-rich.									ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GCCGAGCGGCGAAGAGAGCAG	0.602													A	57181050	G	A	57181050	3	1	193	1	0	0	0	0	1	0	0	0	8215	1058	37	1	1400	1	KIAA1211	4	57181050	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2037448	57181050	133973226	429	105662											
C4orf14	84273	broad.mit.edu	37	chr4	57839340	57839340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtaattccaggggTgtcataaaaccagtgggcat	10	7	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:57839340T>C	uc003hck.2	-	3	1564	c.1489A>G	c.(1489-1491)ACC>GCC	p.T497A		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	497							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					ATTCCAGGGGTGTCATAAAAC	0.299													C	57839340	T	C	57839340	3	2	193	1	0	0	0	0	1	0	0	0	2251	1696	59	3	627	3	C4orf14	4	57839340	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	658290	57839340	133314936	430	105663											
UGT2B10	7365	broad.mit.edu	37	chr4	69693173	69693173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgataatattgctcacaTgaaggccaagggagcagctg	11	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:69693173T>C	uc003hee.2	+	5	1239	c.1214T>C	c.(1213-1215)ATG>ACG	p.M405T	UGT2B10_uc011cam.1_Missense_Mutation_p.M321T	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	405					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						ATTGCTCACATGAAGGCCAAG	0.448													C	69693173	T	C	69693173	3	2	193	1	0	0	0	0	1	0	0	0	16953	1464	51	3	1232	3	UGT2B10	4	69693173	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	11853833	69693173	121461103	431	105664											
UGT2B7	7364	broad.mit.edu	37	chr4	69962871	69962871	+	Frame_Shift_Del	DEL	A	A	-													atgactttcatggagagggtAaaaaatatgatctatgtgct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:69962870_69962870TA>T	uc003heg.4	+	0	678	c.632_632TA>T	c.(631-633)gtafs	p.V211fs	UGT2B7_uc010ihq.3_Frame_Shift_Del_p.V211fs	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	211					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGGAGAGGGTAAAAAATATG	0.333													-	69962871	A	-	69962871	7	5	193	1	0	1	0	1	0	0	0	0	16959	349	13	0	635	0	UGT2B7	4	69962871	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	269698	69962871	121191405	432	105665											
UGT2B28	54490	broad.mit.edu	37	chr4	70156391	70156391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccatgggatccctatggTaggcattccattgttttggg	11	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:70156391T>C	uc003hej.2	+	5	1174	c.1172T>C	c.(1171-1173)GTA>GCA	p.V391A	UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	391					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	ATCCCTATGGTAGGCATTCCA	0.448													C	70156391	T	C	70156391	3	2	193	1	0	0	0	0	1	0	0	0	16957	1638	57	3	1190	3	UGT2B28	4	70156391	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	193520	70156391	120997885	433	105666											
PPEF2	5470	broad.mit.edu	37	chr4	76781991	76781991	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgctccgagcaaggtcacaGatgcagtcatctgtaatgtc	10	10	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:76781991G>A	uc003hix.2	-	17	2448	c.2091C>T	c.(2089-2091)ATC>ATT	p.I697I	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	697	EF-hand 3.				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			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAAGGTCACAGATGCAGTCAT	0.488													A	76781991	G	A	76781991	2	1	193	1	0	0	0	0	0	0	0	1	12308	932	33	4		4	PPEF2	4	76781991	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6625600	76781991	114372285	434	105667											
PPEF2	5470	broad.mit.edu	37	chr4	76797712	76797712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagggaagagagcggctttCggggagaaaccatgggatgg	19	5	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:76797712C>T	uc003hix.2	-	11	1405	c.1048G>A	c.(1048-1050)GAA>AAA	p.E350K	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.E350K	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	350	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGCGGCTTTCGGGGAGAAAC	0.587													T	76797712	C	T	76797712	3	4	193	1	0	0	0	0	1	0	0	0	12308	893	31	1	1241	1	PPEF2	4	76797712	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	15721	76797712	114356564	435	105668											
STBD1	8987	broad.mit.edu	37	chr4	77230640	77230640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctaaagaagaaatgagCctctctgatttgaacagtca	9	7	2	6	rs115600175	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77230640C>T	uc003hka.2	+	2	810	c.564C>T	c.(562-564)AGC>AGT	p.S188S	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.S39S	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	188	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			AAGAAATGAGCCTCTCTGATT	0.483													T	77230640	C	T	77230640	2	4	193	1	0	0	0	0	0	0	0	1	15273	738	26	2		2	STBD1	4	77230640	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	432928	77230640	113923636	436	105669											
CCDC158	339965	broad.mit.edu	37	chr4	77255321	77255321	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttagcttttgtagagtgCtgagttaaaacaatttacaa	9	4	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77255321C>T	uc003hkb.3	-	18	2818	c.2665_splice	c.e18-1	p.H889_splice		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158											skin(3)|ovary(2)|pancreas(1)	6						TTGTAGAGTGCTGAGTTAAAA	0.299													T	77255321	C	T	77255321	5	4	193	1	0	0	0	0	0	0	1	0	2790	811	28	2	705	2	CCDC158	4	77255321	Splice_Site	SNP	C	TCGA-CG-5726-01A-11D-1600-08	24681	77255321	113898955	437	105670											
ANKRD56	345079	broad.mit.edu	37	chr4	77816917	77816917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtccctgacatttacccGagaagccaacctttgcacta	7	14	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77816917G>A	uc003hki.2	-	1	2086	c.2086C>T	c.(2086-2088)CGG>TGG	p.R696W		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	696	ANK 2.										0						ACATTTACCCGAGAAGCCAAC	0.532													A	77816917	G	A	77816917	3	1	193	1	0	0	0	0	1	0	0	0	682	1057	37	1	299	1	ANKRD56	4	77816917	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	561596	77816917	113337359	438	105671											
CCNI	10983	broad.mit.edu	37	chr4	77969731	77969731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggacggtagacataaaCggaattcagaggcagggaag	17	5	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:77969731C>T	uc003hkm.2	-	7	1319	c.775G>A	c.(775-777)GTT>ATT	p.V259I	CCNI_uc011ccb.1_Missense_Mutation_p.V245I	NM_006835	NP_006826	Q14094	CCNI_HUMAN	cyclin I	259					spermatogenesis					ovary(1)	1						TAGACATAAACGGAATTCAGA	0.522													T	77969731	C	T	77969731	3	4	193	1	0	0	0	0	1	0	0	0	2926	536	19	1	362	1	CCNI	4	77969731	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	152814	77969731	113184545	439	105672											
FGF5	2250	broad.mit.edu	37	chr4	81196119	81196119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggaatacgaggagttttcAgcaacaaatttttagcgatg	10	5	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:81196119A>G	uc003hmd.2	+	2	649	c.412A>G	c.(412-414)AGC>GGC	p.S138G	FGF5_uc003hme.2_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	138					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			ovary(1)|breast(1)	2						AGGAGTTTTCAGCAACAAATT	0.338													G	81196119	A	G	81196119	3	3	193	1	0	0	0	0	1	0	0	0	5855	188	7	3	418	3	FGF5	4	81196119	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3226388	81196119	109958157	440	105673											
PRKG2	5593	broad.mit.edu	37	chr4	82126113	82126113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctctctccagctctgtcAccttgttccgcagagcatca	6	16	5	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:82126113A>G	uc003hmh.2	-	1	103	c.89T>C	c.(88-90)GTG>GCG	p.V30A	PRKG2_uc011cch.1_Missense_Mutation_p.V30A	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	30					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						CAGCTCTGTCACCTTGTTCCG	0.527													G	82126113	A	G	82126113	3	3	193	1	0	0	0	0	1	0	0	0	12523	159	6	3	2271	3	PRKG2	4	82126113	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	929994	82126113	109028163	441	105674											
PTPN13	5783	broad.mit.edu	37	chr4	87691032	87691032	+	Frame_Shift_Del	DEL	A	A	-													atgccagcatagtaagggttAaaaagctctttcctggacag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:87691032delA	uc003hpz.2	+	29	5080	c.4600delA	c.(4600-4602)AAAfs	p.K1534fs	PTPN13_uc003hpy.2_Frame_Shift_Del_p.K1539fs|PTPN13_uc003hqa.2_Frame_Shift_Del_p.K1515fs|PTPN13_uc003hqb.2_Frame_Shift_Del_p.K1343fs|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1534	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTAAGGGTTAAAAAGCTCTT	0.373													-	87691032	A	-	87691032	7	5	193	1	0	1	0	1	0	0	0	0	12782	363	13	0	4725	0	PTPN13	4	87691032	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	5564919	87691032	103463244	442	105675											
SPP1	6696	broad.mit.edu	37	chr4	88903934	88903934	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaattccacagccatgaAtttcacagccatgaagatat	7	10	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:88903934A>T	uc003hra.2	+	7	996	c.831A>T	c.(829-831)GAA>GAT	p.E277D	SPP1_uc003hrb.2_Missense_Mutation_p.E250D|SPP1_uc003hrc.2_Missense_Mutation_p.E263D|SPP1_uc011cde.1_Missense_Mutation_p.E290D|SPP1_uc003hrd.2_Missense_Mutation_p.E236D	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	277				SHEF -> GNSL (in Ref. 2).	biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ACAGCCATGAATTTCACAGCC	0.393													T	88903934	A	T	88903934	3	4	193	1	0	0	0	0	1	0	0	0	15085	98	4	5	853	5	SPP1	4	88903934	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1212902	88903934	102250342	443	105676											
MANBA	4126	broad.mit.edu	37	chr4	103645126	103645127	+	Splice_Site	INS	-	-	A													tttactttttgccatttgctINSaaaaaaaagaaaagattttt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:103645126_103645127insA	uc003hwg.2	-	3	373	c.273_splice	c.e3-1	p.S91_splice	MANBA_uc011ces.1_Splice_Site_p.S91_splice	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor						carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGCCATTTGCTAAAAAAAAGAA	0.282													A	103645127	-	A	103645126	8	5	193	1	0	1	1	0	0	0	1	0	9219	1536	53	0	2428	0	MANBA	4	103645126	Splice_Site	INS	-	TCGA-CG-5726-01A-11D-1600-08	14741192	103645126	87509150	444	105677	508	2									
MANBA	4126	broad.mit.edu	37	chr4	103645127	103645128	+	Splice_Site	INS	-	-	A													ttactttttgccatttgctaINSaaaaaaagaaaagattttta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:103645126_103645127T>TA	uc003hwg.3	-	3	373	c.273_splice	c.e3-1	p.S91_splice	MANBA_uc011ces.2_Splice_Site_p.S91_splice	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	91					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)		TGCCATTTGCTAAAAAAAAGAA	0.282													A	103645128	-	A	103645127	8	5	193	1	0	1	1	0	0	0	1	0	9219	377	13	0		0	MANBA	4	103645127	Splice_Site	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	103645127	87509149	445	105678	508	2									
CYP2U1	113612	broad.mit.edu	37	chr4	108870643	108870643	+	Frame_Shift_Del	DEL	A	A	-													atgaccaaggacaactaattAaaaaagaaacctttattcct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:108870642_108870642TA>T	uc003hyp.3	+	3	1508	c.1425_1425TA>T	c.(1423-1425)attfs	p.I475fs	CYP2U1_uc011cfi.2_Frame_Shift_Del_p.I266fs	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	475					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)		GACAACTAATTAAAAAAGAAA	0.338													-	108870643	A	-	108870643	7	5	193	1	0	1	0	1	0	0	0	0	4175	363	13	0	1440	0	CYP2U1	4	108870643	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	5225516	108870643	82283633	446	105679											
PRDM5	11107	broad.mit.edu	37	chr4	121774642	121774642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgaagccagttggagtgCcgtgggttggtagcatccaa	15	8	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:121774642C>T	uc003idn.2	-	3	481	c.231G>A	c.(229-231)CGG>CGA	p.R77R	PRDM5_uc003ido.2_Silent_p.R77R|PRDM5_uc010ine.2_Silent_p.R77R|PRDM5_uc010inf.2_Silent_p.R77R|PRDM5_uc003idp.1_Silent_p.R77R	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET.				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)|pancreas(1)	2						AGTTGGAGTGCCGTGGGTTGG	0.443													T	121774642	C	T	121774642	2	4	193	1	0	0	0	0	0	0	0	1	12460	726	26	2		2	PRDM5	4	121774642	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	12903999	121774642	69379634	447	105680											
C4orf31	79625	broad.mit.edu	37	chr4	121958294	121958294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctggagtagacatgacGccccagttttggagaaggct	15	9	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:121958294G>A	uc003idq.1	-	4	1359	c.832C>T	c.(832-834)CGT>TGT	p.R278C		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	278	Fibronectin type-III 1.										0						TAGACATGACGCCCCAGTTTT	0.463													A	121958294	G	A	121958294	3	1	193	1	0	0	0	0	1	0	0	0	2261	1087	38	1	878	1	C4orf31	4	121958294	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	183652	121958294	69195982	448	105681											
C4orf31	79625	broad.mit.edu	37	chr4	121961098	121961098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttacctgagccttccccGctcctgtcctctggcagctc	8	18	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:121961098G>A	uc003idq.1	-	3	827	c.300C>T	c.(298-300)AGC>AGT	p.S100S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	100											0						AGCCTTCCCCGCTCCTGTCCT	0.498													A	121961098	G	A	121961098	2	1	193	1	0	0	0	0	0	0	0	1	2261	1078	38	1		1	C4orf31	4	121961098	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2804	121961098	69193178	449	105682											
FAT4	79633	broad.mit.edu	37	chr4	126239229	126239229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctgaatataagtgccCgggaccagggagttcacccc	11	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:126239229C>T	uc003ifj.3	+	1	1663	c.1663C>T	c.(1663-1665)CGG>TGG	p.R555W		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	555	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TATAAGTGCCCGGGACCAGGG	0.517											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126239229	C	T	126239229	3	4	193	1	0	0	0	0	1	0	0	0	5692	643	23	1	1665	1	FAT4	4	126239229	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4278131	126239229	64915047	450	105683											
FAT4	79633	broad.mit.edu	37	chr4	126372330	126372330	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcattagaggtgcagatataGatgaggtcactgtaaatgtc	12	5	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:126372330G>A	uc003ifj.3	+	9	10159	c.10159G>A	c.(10159-10161)GAT>AAT	p.D3387N	FAT4_uc011cgp.1_Missense_Mutation_p.D1685N|FAT4_uc003ifi.1_Missense_Mutation_p.D865N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3387	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGCAGATATAGATGAGGTCAC	0.418													A	126372330	G	A	126372330	3	1	193	1	0	0	0	0	1	0	0	0	5692	942	33	4	10193	4	FAT4	4	126372330	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	133101	126372330	64781946	451	105684											
PCDH18	54510	broad.mit.edu	37	chr4	138452975	138452975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcacggtcaattgtagCccctatgctgatttccccat	7	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:138452975C>T	uc003ihe.3	-	1	655	c.268G>A	c.(268-270)GCT>ACT	p.A90T	PCDH18_uc003ihf.3_Missense_Mutation_p.A83T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	90	Extracellular (Potential).|Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A90T(1)		pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TCAATTGTAGCCCCTATGCTG	0.438													T	138452975	C	T	138452975	3	4	193	1	0	0	0	0	1	0	0	0	11513	739	26	2	3155	2	PCDH18	4	138452975	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	12080645	138452975	52701301	452	105685											
ZNF827	152485	broad.mit.edu	37	chr4	146700596	146700596	+	Frame_Shift_Del	DEL	A	A	-													ttcccacacacgtcacagggAaaaagctggtcattgaattt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:146700596delA	uc003ikn.2	-	9	2499	c.2451delT	c.(2449-2451)TTTfs	p.F817fs	ZNF827_uc003ikm.2_Frame_Shift_Del_p.F817fs|ZNF827_uc010iox.2_Frame_Shift_Del_p.F467fs|ZNF827_uc003ikl.2_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	817	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CGTCACAGGGAAAAAGCTGGT	0.493													-	146700596	A	-	146700596	7	5	193	1	0	1	0	1	0	0	0	0	18177	243	9	0	802	0	ZNF827	4	146700596	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	8247621	146700596	44453680	453	105686											
KIAA0922	23240	broad.mit.edu	37	chr4	154523729	154523729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcctcctgggtaattcGggacctaagtcttgtaaccg	9	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:154523729G>A	uc003inm.3	+	23	2538	c.2486G>A	c.(2485-2487)CGG>CAG	p.R829Q	KIAA0922_uc010ipp.2_Missense_Mutation_p.R830Q|KIAA0922_uc010ipq.2_Missense_Mutation_p.R598Q	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	829	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TGGGTAATTCGGGACCTAAGT	0.433													A	154523729	G	A	154523729	3	1	193	1	0	0	0	0	1	0	0	0	8201	1116	39	1	2579	1	KIAA0922	4	154523729	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7823133	154523729	36630547	454	105687											
DCHS2	54798	broad.mit.edu	37	chr4	155155840	155155840	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaattgggagtcatgccttCtggcagagaaccaagatggt	12	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:155155840C>A	uc003inw.2	-	25	8599	c.8599G>T	c.(8599-8601)GAA>TAA	p.E2867*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2867					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCATGCCTTCTGGCAGAGAA	0.512													A	155155840	C	A	155155840	4	1	193	1	0	0	0	0	0	1	0	0	4288	922	32	5	155	5	DCHS2	4	155155840	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	632111	155155840	35998436	455	105688											
DCHS2	54798	broad.mit.edu	37	chr4	155157007	155157007	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaatcaaataaatatttcCattggttttatttactgaaa	3	5	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:155157007C>A	uc003inw.2	-	25	7432	c.7432G>T	c.(7432-7434)GGA>TGA	p.G2478*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2478	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAATATTTCCATTGGTTTTA	0.383													A	155157007	C	A	155157007	4	1	193	1	0	0	0	0	0	1	0	0	4288	603	21	5	1322	5	DCHS2	4	155157007	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1167	155157007	35997269	456	105689											
ACCN5	51802	broad.mit.edu	37	chr4	156784774	156784774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaccctgcgaattttgCtccggttctgaacaatattg	9	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:156784774C>T	uc003ipe.1	-	2	220	c.173G>A	c.(172-174)AGC>AAC	p.S58N		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	58	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		GCGAATTTTGCTCCGGTTCTG	0.483													T	156784774	C	T	156784774	3	4	193	1	0	0	0	0	1	0	0	0	132	797	28	2	1380	2	ACCN5	4	156784774	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1627767	156784774	34369502	457	105690											
PDGFC	56034	broad.mit.edu	37	chr4	157684333	157684333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtgcaatcccctgacaCcggtctttggtctcaactga	8	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:157684333C>T	uc003iph.1	-	6	1438	c.947G>A	c.(946-948)GGT>GAT	p.G316D	PDGFC_uc003ipi.1_Missense_Mutation_p.G153D|PDGFC_uc011cis.1_Missense_Mutation_p.G153D|PDGFC_uc011cir.1_Missense_Mutation_p.G160D	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	316					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCCCCTGACACCGGTCTTTGG	0.483													T	157684333	C	T	157684333	3	4	193	1	0	0	0	0	1	0	0	0	11659	507	18	4	94	4	PDGFC	4	157684333	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	899559	157684333	33469943	458	105691											
GRIA2	2891	broad.mit.edu	37	chr4	158262574	158262574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcaaacagaaattgcttAtggaacattagactctggct	8	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:158262574A>G	uc003ipm.3	+	12	2462	c.2003A>G	c.(2002-2004)TAT>TGT	p.Y668C	GRIA2_uc011cit.1_Missense_Mutation_p.Y621C|GRIA2_uc003ipl.3_Missense_Mutation_p.Y668C|GRIA2_uc003ipk.3_Missense_Mutation_p.Y621C|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	668	Extracellular (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAATTGCTTATGGAACATTA	0.403													G	158262574	A	G	158262574	3	3	193	1	0	0	0	0	1	0	0	0	6768	449	16	3	2049	3	GRIA2	4	158262574	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	578241	158262574	32891702	459	105692											
FSTL5	56884	broad.mit.edu	37	chr4	162577602	162577602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcccacagttgctgcagTgatgcttagtttctgatctt	9	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:162577602T>C	uc003iqh.2	-	7	1208	c.772A>G	c.(772-774)ACT>GCT	p.T258A	FSTL5_uc003iqi.2_Missense_Mutation_p.T257A|FSTL5_uc010iqv.2_Missense_Mutation_p.T257A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	258	Ig-like 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTTGCTGCAGTGATGCTTAGT	0.398													C	162577602	T	C	162577602	3	2	193	1	0	0	0	0	1	0	0	0	6080	1696	59	3	1811	3	FSTL5	4	162577602	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	4315028	162577602	28576674	460	105693											
KLHL2	11275	broad.mit.edu	37	chr4	166231877	166231877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatggattattatacgcTgtgggaggctttgatgggag	14	3	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:166231877T>C	uc003irb.2	+	10	1471	c.1212T>C	c.(1210-1212)GCT>GCC	p.A404A	KLHL2_uc011cjm.1_Silent_p.A408A|KLHL2_uc003irc.2_Silent_p.A316A|KLHL2_uc010ira.2_Silent_p.A57A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	404	Kelch 3.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	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)		TATTATACGCTGTGGGAGGCT	0.423													C	166231877	T	C	166231877	2	2	193	1	0	0	0	0	0	0	0	1	8374	1567	55	3		3	KLHL2	4	166231877	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3654275	166231877	24922399	461	105694											
DDX60L	91351	broad.mit.edu	37	chr4	169351672	169351672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggaatcctcctttggcCgagtagtttgagtcacaatg	10	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:169351672C>T	uc003irq.3	-	13	1855	c.1634G>A	c.(1633-1635)CGG>CAG	p.R545Q	DDX60L_uc003irr.1_Missense_Mutation_p.R545Q|DDX60L_uc003irs.1_Missense_Mutation_p.R272Q	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	545							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTCCTTTGGCCGAGTAGTTTG	0.353													T	169351672	C	T	169351672	3	4	193	1	0	0	0	0	1	0	0	0	4379	652	23	1	3590	1	DDX60L	4	169351672	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3119795	169351672	21802604	462	105695											
GALNTL6	442117	broad.mit.edu	37	chr4	173803946	173803946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcatttcacaggtctcCtgttatggctggaggtctct	10	9	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:173803946C>T	uc003isv.2	+	8	1665	c.929C>T	c.(928-930)CCT>CTT	p.P310L		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	310	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CACAGGTCTCCTGTTATGGCT	0.388													T	173803946	C	T	173803946	3	4	193	1	0	0	0	0	1	0	0	0	6225	681	24	4	955	4	GALNTL6	4	173803946	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4452274	173803946	17350330	463	105696											
DCTD	1635	broad.mit.edu	37	chr4	183815681	183815681	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgcattcattacaagggaAcaaggcaacatacatactac	7	10	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:183815681A>C	uc003ivf.2	-	4	496	c.322T>G	c.(322-324)TTC>GTC	p.F108V	DCTD_uc003ivg.2_Missense_Mutation_p.F119V|DCTD_uc010irw.2_Missense_Mutation_p.F49V|DCTD_uc003ivh.2_Missense_Mutation_p.F49V	NM_001921	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform b	108					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		TTACAAGGGAACAAGGCAACA	0.468													C	183815681	A	C	183815681	3	2	193	1	0	0	0	0	1	0	0	0	4305	43	2	5	226	5	DCTD	4	183815681	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	10011735	183815681	7338595	464	105697											
C4orf41	60684	broad.mit.edu	37	chr4	184596387	184596387	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagatacacaaaatgcgcTgaagtaagttaagctttcaa	7	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:184596387T>G	uc003ivx.2	+	7	907	c.731T>G	c.(730-732)CTG>CGG	p.L244R	C4orf41_uc003ivw.2_Missense_Mutation_p.L244R|C4orf41_uc010isc.2_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	244											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CAAAATGCGCTGAAGTAAGTT	0.269													G	184596387	T	G	184596387	3	3	193	1	0	0	0	0	1	0	0	0	2270	1580	55	5	753	5	C4orf41	4	184596387	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	780706	184596387	6557889	465	105698											
IRF2	3660	broad.mit.edu	37	chr4	185339729	185339729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggcagcattcggtagacCctgaaggcattatttccttt	11	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:185339729C>A	uc003iwf.3	-	4	521	c.321G>T	c.(319-321)AGG>AGT	p.R107S		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	107	IRF tryptophan pentad repeat.				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			ovary(1)	1		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)		TTCGGTAGACCCTGAAGGCAT	0.408													A	185339729	C	A	185339729	3	1	193	1	0	0	0	0	1	0	0	0	7828	622	22	5	752	5	IRF2	4	185339729	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	743342	185339729	5814547	466	105699											
LRP2BP	55805	broad.mit.edu	37	chr4	186295603	186295603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagaattttcttcatatagtCcacccctttctccttcgaca	3	13	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186295603C>A	uc003ixj.1	-	4	1155	c.343G>T	c.(343-345)GAC>TAC	p.D115Y	LRP2BP_uc003ixk.1_Missense_Mutation_p.D89Y|LRP2BP_uc011ckr.1_Missense_Mutation_p.D115Y	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	115	Sel1-like 1.					cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TTCATATAGTCCACCCCTTTC	0.388													A	186295603	C	A	186295603	3	1	193	1	0	0	0	0	1	0	0	0	8957	855	30	5	720	5	LRP2BP	4	186295603	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	955874	186295603	4858673	467	105700											
CCDC110	256309	broad.mit.edu	37	chr4	186379967	186379968	+	Frame_Shift_Ins	INS	-	-	T													tcttttagaagctggtgtgtINSttttttctctaacatttctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186379966_186379967G>GT	uc003ixu.4	-	5	1850_1851	c.1774_1775C>AC	c.(1774-1776)acafs	p.T592fs	CCDC110_uc003ixv.4_Frame_Shift_Ins_p.T555fs|CCDC110_uc011ckt.1_Frame_Shift_Ins_p.T592fs	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	592						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)		AAGCTGGTGTGTTTTTTTCTCT	0.307													T	186379968	-	T	186379967	7	5	193	1	0	1	1	0	0	0	0	0	2747	1725	60	0	735	0	CCDC110	4	186379967	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	84364	186379967	4774309	468	105701											
CCDC110	256309	broad.mit.edu	37	chr4	186380474	186380474	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatttttgcaacacactGctcagtaacggaattaactt	6	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186380474G>A	uc003ixu.3	-	6	1343	c.1267C>T	c.(1267-1269)CAG>TAG	p.Q423*	CCDC110_uc003ixv.3_Nonsense_Mutation_p.Q386*|CCDC110_uc011ckt.1_Nonsense_Mutation_p.Q423*	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	423						nucleus				central_nervous_system(1)	1		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)		GCAACACACTGCTCAGTAACG	0.313													A	186380474	G	A	186380474	4	1	193	1	0	0	0	0	0	1	0	0	2747	1328	46	2	1242	2	CCDC110	4	186380474	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	507	186380474	4773802	469	105702											
SORBS2	8470	broad.mit.edu	37	chr4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-													taagaagaatacttacggttCccccccaccttgaatatttt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:186515043_186515043TC>T	uc003iyg.3	-	18	3505	c.3473_3473GA>A	c.(3472-3474)gaafs	p.E1158fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.E768fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.E605fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.E675fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.E610fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.E588fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.E1144fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.E1044fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.E635fs|SORBS2_uc011cku.2_Frame_Shift_Del_p.E436fs|SORBS2_uc011ckv.2_Frame_Shift_Del_p.E948fs|SORBS2_uc003iyd.3_Frame_Shift_Del_p.E743fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.E617fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.E564fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.E517fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.E497fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.E580fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	1044						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		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)		TACTTACGGTTCCCCCCCACC	0.353													-	186515044	C	-	186515044	7	5	193	1	0	1	0	1	0	0	0	0	14928	864	30	0	184	0	SORBS2	4	186515044	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	134570	186515044	4639232	470	105703											
FAM149A	25854	broad.mit.edu	37	chr4	187075716	187075716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttgctgacctaacggcaCgttcatccctggaagaagag	13	10	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187075716C>T	uc003iyt.3	+	6	886	c.307C>T	c.(307-309)CGT>TGT	p.R103C	FAM149A_uc011cla.1_Missense_Mutation_p.R103C|FAM149A_uc010isj.2_Missense_Mutation_p.R103C|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.R103C|FAM149A_uc010isl.2_Missense_Mutation_p.R103C|FAM149A_uc011clb.1_Missense_Mutation_p.R103C	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	394										breast(1)	1		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)		CCTAACGGCACGTTCATCCCT	0.473													T	187075716	C	T	187075716	3	4	193	1	0	0	0	0	1	0	0	0	5455	536	19	1	317	1	FAM149A	4	187075716	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	560672	187075716	4078560	471	105704											
KLKB1	3818	broad.mit.edu	37	chr4	187171481	187171481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagatgcttttgtgtgtcGgaccatctgcacctatcacc	8	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187171481G>T	uc003iyy.2	+	7	754	c.683G>T	c.(682-684)CGG>CTG	p.R228L	KLKB1_uc011clc.1_Nonsense_Mutation_p.G16*|KLKB1_uc011cld.1_Missense_Mutation_p.R190L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	228	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		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)		TTTGTGTGTCGGACCATCTGC	0.463													T	187171481	G	T	187171481	3	4	193	1	0	0	0	0	1	0	0	0	8412	1116	39	5	705	5	KLKB1	4	187171481	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	95765	187171481	3982795	472	105705											
KLKB1	3818	broad.mit.edu	37	chr4	187173268	187173268	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgaagctgacagcTcagaggcacctgtgtggagg	16	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187173268T>G	uc003iyy.2	+	11	1313	c.1242T>G	c.(1240-1242)GCT>GCG	p.A414A	KLKB1_uc011clc.1_Silent_p.A212A|KLKB1_uc011cld.1_Silent_p.A376A	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	414	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		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)		AGCTGACAGCTCAGAGGCACC	0.542													G	187173268	T	G	187173268	2	3	193	1	0	0	0	0	0	0	0	1	8412	1538	54	5		5	KLKB1	4	187173268	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1787	187173268	3981008	473	105706											
FAT1	2195	broad.mit.edu	37	chr4	187509854	187509854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacctcggactccacttcGcagcaggctgacacgtcaga	10	14	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr4:187509854G>A	uc003izf.2	-	27	13847	c.13659C>T	c.(13657-13659)TGC>TGT	p.C4553C	FAT1_uc010isn.2_Silent_p.C200C|FAT1_uc003ize.2_Silent_p.C444C	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4553	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ACTCCACTTCGCAGCAGGCTG	0.622										HNSCC(5;0.00058)			A	187509854	G	A	187509854	2	1	193	1	0	0	0	0	0	0	0	1	5689	1079	38	1		1	FAT1	4	187509854	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	336586	187509854	3644422	474	105707											
PLEKHG4B	153478	broad.mit.edu	37	chr5	171386	171386	+	Frame_Shift_Del	DEL	G	G	-													cctcctacctgctgcggcccGtgcagcgtgtggccaagtac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:171386delG	uc003jak.2	+	14	2859	c.2809delG	c.(2809-2811)GTGfs	p.V937fs		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	937	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTGCGGCCCGTGCAGCGTGT	0.687													-	171386	G	-	171386	7	5	193	1	0	1	0	1	0	0	0	0	12072	1145	40	0	2863	0	PLEKHG4B	5	171386	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08		171386	180743874	475	105708											
LRRC14B	389257	broad.mit.edu	37	chr5	191707	191707	+	Frame_Shift_Del	DEL	C	C	-													gcagaagctctggtgtcccaCccccaggtggcccggcagag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:191707delC	uc003jal.1	+	1	82	c.54delC	c.(52-54)CACfs	p.H18fs		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	18										skin(1)	1						TGGTGTCCCACCCCCAGGTGG	0.642													-	191707	C	-	191707	7	5	193	1	0	1	0	1	0	0	0	0	8969	506	18	0	56	0	LRRC14B	5	191707	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	20321	191707	180723553	476	105709											
KIAA0947	23379	broad.mit.edu	37	chr5	5464464	5464464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccaggtttctcccttcCgtgaaaccccagtgcctcct	8	16	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:5464464C>T	uc003jdm.3	+	13	5239	c.5017C>T	c.(5017-5019)CGT>TGT	p.R1673C		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1673	Pro-rich.									ovary(1)|central_nervous_system(1)	2						TTCTCCCTTCCGTGAAACCCC	0.567													T	5464464	C	T	5464464	3	4	193	1	0	0	0	0	1	0	0	0	8202	652	23	1	5067	1	KIAA0947	5	5464464	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5272757	5464464	175450796	477	105710											
PAPD7	11044	broad.mit.edu	37	chr5	6742688	6742688	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacgggcgtccgggcagcggAgttcatcaagaattacatga	14	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:6742688A>T	uc003jdx.1	+	5	473	c.344A>T	c.(343-345)GAG>GTG	p.E115V	PAPD7_uc011cmn.1_Missense_Mutation_p.E106V	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	115					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			ovary(1)	1						CGGGCAGCGGAGTTCATCAAG	0.488													T	6742688	A	T	6742688	3	4	193	1	0	0	0	0	1	0	0	0	11426	304	11	5	358	5	PAPD7	5	6742688	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1278224	6742688	174172572	478	105711											
ADCY2	108	broad.mit.edu	37	chr5	7414769	7414769	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatttatcctggtctgcatCgagtctgtgtttaagaagct	9	7	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:7414769C>T	uc003jdz.1	+	2	361	c.294C>T	c.(292-294)ATC>ATT	p.I98I		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	98					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			ovary(5)|pancreas(1)|skin(1)	7						TGGTCTGCATCGAGTCTGTGT	0.453													T	7414769	C	T	7414769	2	4	193	1	0	0	0	0	0	0	0	1	294	874	31	1		1	ADCY2	5	7414769	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	672081	7414769	173500491	479	105712											
MTRR	4552	broad.mit.edu	37	chr5	7892923	7892923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacaacagaggttctgcGgaagggagtatgtacaggct	14	8	1	1	rs146475928	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:7892923G>A	uc003jed.2	+	11	1565	c.1535G>A	c.(1534-1536)CGG>CAG	p.R512Q	MTRR_uc003jee.3_Missense_Mutation_p.R485Q|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	512	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GAGGTTCTGCGGAAGGGAGTA	0.478													A	7892923	G	A	7892923	3	1	193	1	0	0	0	0	1	0	0	0	9961	1116	39	1	1577	1	MTRR	5	7892923	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	478154	7892923	173022337	480	105713											
CTNND2	1501	broad.mit.edu	37	chr5	11082809	11082809	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatcagggagaacataccGatgagctccttatttctgac	9	9	2	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:11082809G>A	uc003jfa.1	-	16	2932	c.2787C>T	c.(2785-2787)ATC>ATT	p.I929I	CTNND2_uc010itt.2_Silent_p.I838I|CTNND2_uc011cmy.1_Silent_p.I592I|CTNND2_uc011cmz.1_Silent_p.I496I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.I521I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						AGAACATACCGATGAGCTCCT	0.507													A	11082809	G	A	11082809	2	1	193	1	0	0	0	0	0	0	0	1	4020	1072	37	1		1	CTNND2	5	11082809	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3189886	11082809	169832451	481	105714											
CTNND2	1501	broad.mit.edu	37	chr5	11384949	11384949	+	Frame_Shift_Del	DEL	G	G	-													gagatggtggactgcacggtGgggggcgaggtcacgcggat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:11384949delG	uc003jfa.1	-	7	1150	c.1005delC	c.(1003-1005)CCCfs	p.P335fs	CTNND2_uc010itt.2_Frame_Shift_Del_p.P244fs|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	335					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						ACTGCACGGTGGGGGGCGAGG	0.687													-	11384949	G	-	11384949	7	5	193	1	0	1	0	1	0	0	0	0	4020	1335	47	0	2736	0	CTNND2	5	11384949	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	302140	11384949	169530311	482	105715											
MYO10	4651	broad.mit.edu	37	chr5	16711279	16711279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcatacccagctttgcGgattctcacagtctccagca	8	15	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:16711279G>A	uc003jft.3	-	20	2473	c.2005C>T	c.(2005-2007)CGC>TGC	p.R669C	MYO10_uc011cnd.1_Missense_Mutation_p.R26C|MYO10_uc011cne.1_Missense_Mutation_p.R26C|MYO10_uc010itx.2_Missense_Mutation_p.R292C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	669	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCAGCTTTGCGGATTCTCACA	0.478													A	16711279	G	A	16711279	3	1	193	1	0	0	0	0	1	0	0	0	10062	1116	39	1	4259	1	MYO10	5	16711279	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5326330	16711279	164203981	483	105716											
MTMR12	54545	broad.mit.edu	37	chr5	32235098	32235100	+	In_Frame_Del	DEL	GAA	GAA	-													tctttttgatgaggtgaattGaagaagaaggtgctaaaaat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:32235098_32235100delGAA	uc003jhq.2	-	14	1650_1652	c.1480_1482delTTC	c.(1480-1482)TTCdel	p.F494del	MTMR12_uc010iuk.2_In_Frame_Del_p.F494del|MTMR12_uc010iul.2_Intron	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	494	Myotubularin phosphatase.|Interaction with MTM1.					cytoplasm	phosphatase activity			ovary(1)	1						GAGGTGAATTGAAGAAGAAGGTG	0.419													-	32235100	GAA	-	32235098	7	5	193	1	0	1	0	1	0	0	0	0	9941	1281	45	0	773	0	MTMR12	5	32235098	In_Frame_Del	DEL	GAA	TCGA-CG-5726-01A-11D-1600-08	15523819	32235098	148680162	484	105717											
ZFR	51663	broad.mit.edu	37	chr5	32406984	32406984	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaatggtgcttttttAgtaaaggtggtccctgtcca	11	6	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:32406984A>T	uc003jhr.1	-	6	1007	c.927T>A	c.(925-927)ACT>ACA	p.T309T	ZFR_uc010iun.1_Silent_p.T309T	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	309					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		GTGCTTTTTTAGTAAAGGTGG	0.294													T	32406984	A	T	32406984	2	4	193	1	0	0	0	0	0	0	0	1	17656	407	15	5		5	ZFR	5	32406984	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	171886	32406984	148508276	485	105718											
RXFP3	51289	broad.mit.edu	37	chr5	33937420	33937420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggctctgaagagccaccGgacccgaggacacggccggg	15	15	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:33937420G>A	uc003jic.1	+	1	932	c.575G>A	c.(574-576)CGG>CAG	p.R192Q		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	192	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						AAGAGCCACCGGACCCGAGGA	0.647													A	33937420	G	A	33937420	3	1	193	1	0	0	0	0	1	0	0	0	13761	1116	39	1	577	1	RXFP3	5	33937420	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1530436	33937420	146977840	486	105719											
UGT3A1	133688	broad.mit.edu	37	chr5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgggcacaccatgaCggatggcctccattacgctg	10	15	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:35955903C>T	uc003jjv.1	-	6	1296	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R380H|UGT3A1_uc011cor.1_Missense_Mutation_p.R346H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	380	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493													T	35955903	C	T	35955903	3	4	193	1	0	0	0	0	1	0	0	0	16960	536	19	1	440	1	UGT3A1	5	35955903	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2018483	35955903	144959357	487	105720											
RICTOR	253260	broad.mit.edu	37	chr5	38942984	38942984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtatgaacctccgacacGgaagtctgaatgtgcagtgt	11	9	1	2	rs77464125	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:38942984G>A	uc003jlp.2	-	37	5027	c.5003C>T	c.(5002-5004)CCG>CTG	p.P1668L	RICTOR_uc003jlo.2_Missense_Mutation_p.P1692L|RICTOR_uc010ivf.2_Missense_Mutation_p.P1345L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1668					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			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					CCTCCGACACGGAAGTCTGAA	0.338													A	38942984	G	A	38942984	3	1	193	1	0	0	0	0	1	0	0	0	13358	1116	39	1	131	1	RICTOR	5	38942984	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2987081	38942984	141972276	488	105721											
CARD6	84674	broad.mit.edu	37	chr5	40853916	40853916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttgtcagcatgtacagGcctgccctgagagaccacaa	9	13	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:40853916G>A	uc003jmg.2	+	3	2557	c.2482G>A	c.(2482-2484)GCC>ACC	p.A828T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	828					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						GCATGTACAGGCCTGCCCTGA	0.488													A	40853916	G	A	40853916	3	1	193	1	0	0	0	0	1	0	0	0	2650	1203	42	2	2492	2	CARD6	5	40853916	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1910932	40853916	140061344	489	105722											
ESM1	11082	broad.mit.edu	37	chr5	54275251	54275251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatattgccatctccagatGccatgtcatgctctgaaagt	7	11	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:54275251G>T	uc003jpk.2	-	3	533	c.464C>A	c.(463-465)GCA>GAA	p.A155E	ESM1_uc010ivt.2_Missense_Mutation_p.A105E	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1 isoform a	155					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			ATCTCCAGATGCCATGTCATG	0.413													T	54275251	G	T	54275251	3	4	193	1	0	0	0	0	1	0	0	0	5252	1319	46	5	94	5	ESM1	5	54275251	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	13421335	54275251	126640009	490	105723											
DHX29	54505	broad.mit.edu	37	chr5	54573111	54573111	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggacacttctttcatgaacCtagttttaaaaagggaataa	7	6	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:54573111C>G	uc003jpx.2	-	13	2230	c.2110_splice	c.e13-1	p.V704_splice	DHX29_uc010ivw.2_Splice_Site	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29								ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTCATGAACCTAGTTTTAAA	0.318													G	54573111	C	G	54573111	5	3	193	1	0	0	0	0	0	0	1	0	4503	695	24	5	2060	5	DHX29	5	54573111	Splice_Site	SNP	C	TCGA-CG-5726-01A-11D-1600-08	297860	54573111	126342149	491	105724											
MAP3K1	4214	broad.mit.edu	37	chr5	56177984	56177986	+	In_Frame_Del	DEL	CTT	CTT	-													gtttccagccttgtcaacccCttcttcttctaccccatctg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:56177984_56177986delCTT	uc003jqw.3	+	14	3458_3460	c.2957_2959delCTT	c.(2956-2961)CCTTCT>CCT	p.S989del		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	989					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			ovary(1)|skin(1)	2		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)		TTGTCAACCCCTTCTTCTTCTAC	0.458													-	56177986	CTT	-	56177984	7	5	193	1	0	1	0	1	0	0	0	0	9243	681	24	0	3011	0	MAP3K1	5	56177984	In_Frame_Del	DEL	CTT	TCGA-CG-5726-01A-11D-1600-08	1604873	56177984	124737276	492	105725											
ACTBL2	345651	broad.mit.edu	37	chr5	56778450	56778450	+	Frame_Shift_Del	DEL	G	G	-													catggaggggaacacagcccGgggggcatcgtcaccaccaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:56778450delG	uc003jrm.2	-	1	187	c.85delC	c.(85-87)CGGfs	p.R29fs		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	29						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		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)		AACACAGCCCGGGGGGCATCG	0.582													-	56778450	G	-	56778450	7	5	193	1	0	1	0	1	0	0	0	0	194	1115	39	0	1049	0	ACTBL2	5	56778450	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	600466	56778450	124136810	493	105726											
SLC30A5	64924	broad.mit.edu	37	chr5	68417584	68417584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctttagccatgcccatAgccatgcccatggagcttct	9	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:68417584A>G	uc003jvh.2	+	13	1834	c.1633A>G	c.(1633-1635)AGC>GGC	p.S545G	SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Missense_Mutation_p.S274G|SLC30A5_uc003jvi.2_Missense_Mutation_p.S374G	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter),	545	Cytoplasmic (Potential).|His-rich loop.				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			central_nervous_system(1)	1		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)		ccatgcccatagccatgccca	0.393													G	68417584	A	G	68417584	3	3	193	1	0	0	0	0	1	0	0	0	14558	420	15	3	1771	3	SLC30A5	5	68417584	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	11639134	68417584	112497676	494	105727											
BDP1	55814	broad.mit.edu	37	chr5	70805815	70805815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactggaaatgagagttccCcaagggagaagacaccagag	12	9	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:70805815C>A	uc003kbp.1	+	17	3159	c.2896C>A	c.(2896-2898)CCA>ACA	p.P966T	BDP1_uc003kbn.1_Missense_Mutation_p.P966T|BDP1_uc003kbo.2_Missense_Mutation_p.P966T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	966	3.|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			skin(2)	2		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)		TGAGAGTTCCCCAAGGGAGAA	0.448													A	70805815	C	A	70805815	3	1	193	1	0	0	0	0	1	0	0	0	1395	623	22	5	2962	5	BDP1	5	70805815	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2388231	70805815	110109445	495	105728											
COL4A3BP	10087	broad.mit.edu	37	chr5	74696125	74696125	+	Splice_Site	DEL	A	A	-													caccttttcactctgtgactAaaaaaacatataatattaag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:74696124_74696124TA>T	uc011csu.2	-	10	1440	c.1018_splice	c.e10-1	p.S340_splice	COL4A3BP_uc003kds.3_Splice_Site_p.S340_splice|COL4A3BP_uc003kdt.3_Splice_Site_p.S468_splice|COL4A3BP_uc003kdu.2_Splice_Site_p.S340_splice	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	340					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	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)		ACTCTGTGACTAAAAAAACAT	0.368													-	74696125	A	-	74696125	8	5	193	1	0	1	0	1	0	0	1	0	3692	377	13	0		0	COL4A3BP	5	74696125	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	3890310	74696125	106219135	496	105729											
AP3B1	8546	broad.mit.edu	37	chr5	77536745	77536745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacagttcagatgcattttTcccttttgcaatcatctgaa	5	9	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:77536745T>C	uc003kfj.2	-	3	345	c.220A>G	c.(220-222)AAA>GAA	p.K74E		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	74					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		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)		GATGCATTTTTCCCTTTTGCA	0.289									Hermansky-Pudlak_syndrome				C	77536745	T	C	77536745	3	2	193	1	0	0	0	0	1	0	0	0	744	1792	62	3	3164	3	AP3B1	5	77536745	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2840620	77536745	103378515	497	105730											
PAPD4	167153	broad.mit.edu	37	chr5	78938657	78938658	+	Frame_Shift_Ins	INS	-	-	T													tatttttaacttttcagtgtINSttttttcaggtaaatcagaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:78938656_78938657G>GT	uc010jae.1	+	7	1092_1093	c.674_675G>GT	c.(673-675)tgtfs	p.C225fs	PAPD4_uc003kgb.2_Frame_Shift_Ins_p.C225fs|PAPD4_uc010jaf.1_Frame_Shift_Ins_p.C225fs|PAPD4_uc003kga.2_Intron|PAPD4_uc003kfz.2_Frame_Shift_Ins_p.C225fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	225					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACTTTTCAGTGTTTTTTTCAGG	0.302													T	78938658	-	T	78938657	7	5	193	1	0	1	1	0	0	0	0	0	11424	1731	60	0	697	0	PAPD4	5	78938657	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1401912	78938657	101976603	498	105731											
VCAN	1462	broad.mit.edu	37	chr5	82835880	82835880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctctccctttctccaCggacatcggacatcctcaaa	6	17	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:82835880C>T	uc003kii.3	+	8	7414	c.7058C>T	c.(7057-7059)ACG>ATG	p.T2353M	VCAN_uc003kij.3_Missense_Mutation_p.T1366M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.T1017M	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2353	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CCTTTCTCCACGGACATCGGA	0.448													T	82835880	C	T	82835880	3	4	193	1	0	0	0	0	1	0	0	0	17135	536	19	1	7084	1	VCAN	5	82835880	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3897223	82835880	98079380	499	105732											
VCAN	1462	broad.mit.edu	37	chr5	82850774	82850774	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggtttcctatcccttaGgtgtgggccatgattatcag	12	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:82850774G>T	uc003kii.3	+	12	10009	c.9653_splice	c.e12-1	p.R3218_splice	VCAN_uc003kij.3_Splice_Site_p.R2231_splice|VCAN_uc010jau.2_Splice_Site_p.R1464_splice|VCAN_uc003kik.3_Splice_Site_p.R477_splice|VCAN_uc003kil.3_Splice_Site_p.R1882_splice	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor						cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CTATCCCTTAGGTGTGGGCCA	0.393													T	82850774	G	T	82850774	5	4	193	1	0	0	0	0	0	0	1	0	17135	1014	35	5	9694	5	VCAN	5	82850774	Splice_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	14894	82850774	98064486	500	105733											
RASA1	5921	broad.mit.edu	37	chr5	86659293	86659293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcagtgtatgttctgtcTatgtcgttcatgatagtctc	8	8	5	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:86659293T>C	uc003kiw.2	+	11	1700	c.1582T>C	c.(1582-1584)TAT>CAT	p.Y528H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.Y351H|RASA1_uc011ctv.1_Missense_Mutation_p.Y361H|RASA1_uc011ctw.1_Missense_Mutation_p.Y362H|RASA1_uc010jaw.2_Missense_Mutation_p.Y350H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	528	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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		ATGTTCTGTCTATGTCGTTCA	0.338													C	86659293	T	C	86659293	3	2	193	1	0	0	0	0	1	0	0	0	13060	1522	53	3	1636	3	RASA1	5	86659293	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3808519	86659293	94255967	501	105734											
LYSMD3	116068	broad.mit.edu	37	chr5	89814745	89814748	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													gcacaattccattttccattTctctctgctgtgatgggggt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:89814745_89814748delTCTC	uc003kjr.2	-	3	957_960	c.809_812delGAGA	c.(808-813)AGAGAAfs	p.R270fs	LYSMD3_uc010jaz.1_Frame_Shift_Del_p.E112fs|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	270_271	Cytoplasmic (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		ATTTTCCATTTCTCTCTGCTGTGA	0.373													-	89814748	TCTC	-	89814745	7	5	193	1	0	1	0	1	0	0	0	0	9126	1783	62	0	112	0	LYSMD3	5	89814745	Frame_Shift_Del	DEL	TCTC	TCGA-CG-5726-01A-11D-1600-08	3155452	89814745	91100515	502	105735											
GPR98	84059	broad.mit.edu	37	chr5	89939634	89939634	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttagttggatgaacactaCtgggtggtcctcagcagcca	11	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:89939634C>G	uc003kju.2	+	14	2664	c.2568C>G	c.(2566-2568)TAC>TAG	p.Y856*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	856	Extracellular (Potential).|Calx-beta 6.				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		ATGAACACTACTGGGTGGTCC	0.353													G	89939634	C	G	89939634	4	3	193	1	0	0	0	0	0	1	0	0	6721	576	20	5	2622	5	GPR98	5	89939634	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	124889	89939634	90975626	503	105736											
GPR98	84059	broad.mit.edu	37	chr5	89939651	89939651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctactgggtggtcctcagcaGccacggagaacgggaaagca	14	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:89939651G>T	uc003kju.2	+	14	2681	c.2585G>T	c.(2584-2586)AGC>ATC	p.S862I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	862	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		GTCCTCAGCAGCCACGGAGAA	0.363													T	89939651	G	T	89939651	3	4	193	1	0	0	0	0	1	0	0	0	6721	971	34	5	2639	5	GPR98	5	89939651	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	17	89939651	90975609	504	105737											
APC	324	broad.mit.edu	37	chr5	112176242	112176243	+	Frame_Shift_Del	DEL	TT	TT	-													ttgaagggacacctataaacTtttccacagctacatctcta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:112176242_112176243delTT	uc010jby.2	+	16	5331_5332	c.4951_4952delTT	c.(4951-4953)TTTfs	p.F1651fs	APC_uc011cvt.1_Frame_Shift_Del_p.F1633fs|APC_uc003kpz.3_Frame_Shift_Del_p.F1651fs|APC_uc003kpy.3_Frame_Shift_Del_p.F1651fs|APC_uc010jbz.2_Frame_Shift_Del_p.F1368fs|APC_uc010jca.2_Frame_Shift_Del_p.F951fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1651	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.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		ACCTATAAACTTTTCCACAGCT	0.45		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			-	112176243	TT	-	112176242	7	5	193	1	0	1	0	1	0	0	0	0	763	1609	56	0	5009	0	APC	5	112176242	Frame_Shift_Del	DEL	TT	TCGA-CG-5726-01A-11D-1600-08	22236591	112176242	68739018	505	105738											
SRP19	6728	broad.mit.edu	37	chr5	112227916	112227916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttggagacagatgttcaCgtaaacataatttcccaaca	7	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:112227916C>T	uc011cvv.1	+	4	910	c.655C>T	c.(655-657)CGT>TGT	p.R219C	SRP19_uc011cvu.1_Missense_Mutation_p.R204C|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CAGATGTTCACGTAAACATAA	0.443													T	112227916	C	T	112227916	3	4	193	1	0	0	0	0	1	0	0	0	15153	551	19	1		1	SRP19	5	112227916	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	51674	112227916	68687344	506	105739											
DCP2	167227	broad.mit.edu	37	chr5	112327834	112327834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcttcagtcattgtccGtttttgctgcctcaaggtga	8	10	4	1	rs144025307		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:112327834G>A	uc003kqh.2	+	3	420	c.222G>A	c.(220-222)CCG>CCA	p.P74P	DCP2_uc011cwa.1_Intron|DCP2_uc010jcc.2_5'UTR	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	74					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|protein binding|RNA binding				0		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)		GTCATTGTCCGTTTTTGCTGC	0.338													A	112327834	G	A	112327834	2	1	193	1	0	0	0	0	0	0	0	1	4300	1132	40	1		1	DCP2	5	112327834	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	99918	112327834	68587426	507	105740											
PGGT1B	5229	broad.mit.edu	37	chr5	114573623	114573623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttactcggcttaagtcGtctccaagaataactaagca	6	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:114573623G>A	uc003kqw.3	-	4	432	c.411C>T	c.(409-411)GAC>GAT	p.D137D	PGGT1B_uc003kqx.3_Silent_p.D14D|PGGT1B_uc010jch.2_Silent_p.D137D	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	137					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GGCTTAAGTCGTCTCCAAGAA	0.418													A	114573623	G	A	114573623	2	1	193	1	0	0	0	0	0	0	0	1	11789	1136	40	1		1	PGGT1B	5	114573623	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2245789	114573623	66341637	508	105741											
DMXL1	1657	broad.mit.edu	37	chr5	118486082	118486082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatacaattgcaactacaagCactgatattggagaaagccg	9	8	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:118486082C>T	uc003ksd.2	+	18	4741	c.4560C>T	c.(4558-4560)AGC>AGT	p.S1520S	DMXL1_uc010jcl.1_Silent_p.S1520S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1520										ovary(2)	2		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)		CAACTACAAGCACTGATATTG	0.378													T	118486082	C	T	118486082	2	4	193	1	0	0	0	0	0	0	0	1	4594	709	25	2		2	DMXL1	5	118486082	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3912459	118486082	62429178	509	105742											
CEP120	153241	broad.mit.edu	37	chr5	122734964	122734964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctggggtcaagtccagCcaggatggcaggtactttac	13	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:122734964C>T	uc003ktk.2	-	6	560	c.478G>A	c.(478-480)GCT>ACT	p.A160T	CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_Missense_Mutation_p.A134T	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	160						centrosome				ovary(1)	1						TCAAGTCCAGCCAGGATGGCA	0.383													T	122734964	C	T	122734964	3	4	193	1	0	0	0	0	1	0	0	0	3246	739	26	2	2546	2	CEP120	5	122734964	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4248882	122734964	58180296	510	105743											
FBN2	2201	broad.mit.edu	37	chr5	127800499	127800499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacatctcacagggatgGccccacgcccgtccaatggt	11	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:127800499G>A	uc003kuu.2	-	6	1183	c.744C>T	c.(742-744)GGC>GGT	p.G248G	FBN2_uc003kuv.2_Silent_p.G215G|FBN2_uc003kuw.3_Silent_p.G248G|FBN2_uc003kux.1_Silent_p.G248G	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	248	TB 1.				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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		CACAGGGATGGCCCCACGCCC	0.602													A	127800499	G	A	127800499	2	1	193	1	0	0	0	0	0	0	0	1	5703	1190	42	2		2	FBN2	5	127800499	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5065535	127800499	53114761	511	105744											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070744	129070744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcatacaggccatgCcatcttcaaccctgcaatga	7	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:129070744C>T	uc003kvb.1	+	22	3414	c.3414C>T	c.(3412-3414)TGC>TGT	p.C1138C	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1138	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		ACAGGCCATGCCATCTTCAAC	0.383													T	129070744	C	T	129070744	2	4	193	1	0	0	0	0	0	0	0	1	264	747	26	2		2	ADAMTS19	5	129070744	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1270245	129070744	51844516	512	105745											
AFF4	27125	broad.mit.edu	37	chr5	132232627	132232627	+	Frame_Shift_Del	DEL	T	T	-													ttctcagcctttttgggttgTtttttgcctacagttcttct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:132232626_132232626GT>G	uc003kyd.3	-	10	2104	c.1696_1696AC>C	c.(1696-1698)caafs	p.Q566fs	AFF4_uc011cxk.2_Frame_Shift_Del_p.Q244fs|AFF4_uc003kye.1_Frame_Shift_Del_p.Q566fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	566					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)			TTTTTGGGTTGTTTTTTGCCT	0.512													-	132232627	T	-	132232627	7	5	193	1	0	1	0	1	0	0	0	0	359	1722	60	0	1840	0	AFF4	5	132232627	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	3161883	132232627	48682633	513	105746											
TXNDC15	79770	broad.mit.edu	37	chr5	134235216	134235216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggtggtaactcaagcCgaccaaataggccctcttcc	9	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:134235216C>T	uc003lac.1	+	5	1582	c.924C>T	c.(922-924)GCC>GCT	p.A308A	TXNDC15_uc010jdy.1_RNA|TXNDC15_uc011cxv.1_RNA	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	disulfide isomerase precursor	308	Extracellular (Potential).				cell redox homeostasis	integral to membrane				ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAACTCAAGCCGACCAAATAG	0.378													T	134235216	C	T	134235216	2	4	193	1	0	0	0	0	0	0	0	1	16791	639	23	1		1	TXNDC15	5	134235216	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2002589	134235216	46680044	514	105747											
TGFBI	7045	broad.mit.edu	37	chr5	135385251	135385251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgaaccgtatcctgggcGacccagaagccctgagaggt	12	12	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:135385251G>A	uc003lbf.3	+	7	1056	c.895G>A	c.(895-897)GAC>AAC	p.D299N	TGFBI_uc003lbg.3_Missense_Mutation_p.D32N|TGFBI_uc003lbh.3_Missense_Mutation_p.D125N|TGFBI_uc011cyb.1_Missense_Mutation_p.D125N|TGFBI_uc010jed.2_Missense_Mutation_p.D32N	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	299	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATCCTGGGCGACCCAGAAGC	0.542													A	135385251	G	A	135385251	3	1	193	1	0	0	0	0	1	0	0	0	15817	1058	37	1	921	1	TGFBI	5	135385251	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1150035	135385251	45530009	515	105748											
BRD8	10902	broad.mit.edu	37	chr5	137486467	137486467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtagtccctgaactgtAcaaataactgagggagctga	12	7	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:137486467A>G	uc003lcf.1	-	22	3142	c.3087T>C	c.(3085-3087)TGT>TGC	p.C1029C	BRD8_uc003lcc.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1029					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTGAACTGTACAAATAACTG	0.418													G	137486467	A	G	137486467	2	3	193	1	0	0	0	0	0	0	0	1	1506	389	14	3		3	BRD8	5	137486467	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2101216	137486467	43428793	516	105749											
BRD8	10902	broad.mit.edu	37	chr5	137505021	137505022	+	Frame_Shift_Ins	INS	-	-	G													atcacagtgggtaacctccgINSggggggtgtttttactgctt					rs150525307	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:137505020_137505021C>CG	uc003lcf.1	-	7	587_588	c.532_533G>CG	c.(532-534)cggfs	p.R178fs	BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Frame_Shift_Ins_p.R34fs|BRD8_uc003lcg.3_Frame_Shift_Ins_p.R178fs|BRD8_uc003lci.3_Frame_Shift_Ins_p.R178fs|BRD8_uc011cym.2_Frame_Shift_Ins_p.R162fs|BRD8_uc011cyn.1_Frame_Shift_Ins_p.R137fs|BRD8_uc010jes.1_Frame_Shift_Ins_p.R45fs	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	178					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R178Q(2)|p.R178fs*20(2)		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)			GGGTAACCTCCGGGGGGGTGTT	0.441													G	137505022	-	G	137505021	7	5	193	1	0	1	1	0	0	0	0	0	1506	1115	39	0	3542	0	BRD8	5	137505021	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	18554	137505021	43410239	517	105750											
GFRA3	2676	broad.mit.edu	37	chr5	137600037	137600037	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggcacatgcagcctatcaGagagctgttcctgagttgct	12	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:137600037G>A	uc003lcn.2	-	2	432	c.292C>T	c.(292-294)CTG>TTG	p.L98L	GFRA3_uc003lco.2_Silent_p.L98L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	98					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCCTATCAGAGAGCTGTTC	0.597													A	137600037	G	A	137600037	2	1	193	1	0	0	0	0	0	0	0	1	6349	933	33	4		4	GFRA3	5	137600037	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	95016	137600037	43315223	518	105751											
SLC23A1	9963	broad.mit.edu	37	chr5	138715466	138715466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgggtctgtgggcagcaCgtctgtcaaggtcaggacat	14	8	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:138715466C>T	uc003leh.2	-	8	923	c.826G>A	c.(826-828)GTG>ATG	p.V276M	SLC23A1_uc003leg.2_Missense_Mutation_p.V280M	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	276					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				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GTGGGCAGCACGTCTGTCAAG	0.597													T	138715466	C	T	138715466	3	4	193	1	0	0	0	0	1	0	0	0	14462	536	19	1	998	1	SLC23A1	5	138715466	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1115429	138715466	42199794	519	105752											
PSD2	84249	broad.mit.edu	37	chr5	139197119	139197119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcagtttcttcgacttctCgggcttgactctggacggag	11	12	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:139197119C>T	uc003leu.1	+	5	1275	c.1070C>T	c.(1069-1071)TCG>TTG	p.S357L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	357	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGACTTCTCGGGCTTGACT	0.483													T	139197119	C	T	139197119	3	4	193	1	0	0	0	0	1	0	0	0	12647	893	31	1	1084	1	PSD2	5	139197119	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	481653	139197119	41718141	520	105753											
PCDHA3	56145	broad.mit.edu	37	chr5	140182832	140182832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcgtcccaggcgtccGctggcgccacgggcccggaa	15	17	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140182832G>A	uc003lhf.2	+	1	2050	c.2050G>A	c.(2050-2052)GCT>ACT	p.A684T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A684T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	684	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCGTCCGCTGGCGCCAC	0.647													A	140182832	G	A	140182832	3	1	193	1	0	0	0	0	1	0	0	0	11525	1087	38	1	2052	1	PCDHA3	5	140182832	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	985713	140182832	40732428	521	105754											
PCDHA4	56144	broad.mit.edu	37	chr5	140189048	140189048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggaggccgagggtgtGctctggtgagggcccaccca	18	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140189048G>A	uc003lhi.2	+	1	2377	c.2276G>A	c.(2275-2277)TGC>TAC	p.C759Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.C759Y|PCDHA4_uc011daa.1_Missense_Mutation_p.C759Y	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	759	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGTGTGCTCTGGTGAG	0.642													A	140189048	G	A	140189048	3	1	193	1	0	0	0	0	1	0	0	0	11526	1319	46	2	2278	2	PCDHA4	5	140189048	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6216	140189048	40726212	522	105755											
PCDHA5	56143	broad.mit.edu	37	chr5	140203040	140203040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggacgagaacgacaaCgcgccggcgctgctggtgcc	16	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140203040C>T	uc003lhl.2	+	1	1680	c.1680C>T	c.(1678-1680)AAC>AAT	p.N560N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.N560N|PCDHA5_uc003lhj.1_Silent_p.N560N	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	560	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCGC	0.711													T	140203040	C	T	140203040	2	4	193	1	0	0	0	0	0	0	0	1	11527	535	19	1		1	PCDHA5	5	140203040	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	13992	140203040	40712220	523	105756											
PCDHA5	56143	broad.mit.edu	37	chr5	140203226	140203226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcgcgcatcccgttccgCgtggggctgtacacaggcga	15	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140203226C>T	uc003lhl.2	+	1	1866	c.1866C>T	c.(1864-1866)CGC>CGT	p.R622R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.R622R|PCDHA5_uc003lhj.1_Silent_p.R622R	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.637													T	140203226	C	T	140203226	2	4	193	1	0	0	0	0	0	0	0	1	11527	755	27	1		1	PCDHA5	5	140203226	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	186	140203226	40712034	524	105757											
PCDHA13	56136	broad.mit.edu	37	chr5	140262616	140262616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgacggtgttagagaacGccttcaatggaacattagtg	12	6	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140262616G>A	uc003lif.2	+	1	763	c.763G>A	c.(763-765)GCC>ACC	p.A255T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A255T|PCDHA13_uc003lid.2_Missense_Mutation_p.A255T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	255	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAGAGAACGCCTTCAATGG	0.448													A	140262616	G	A	140262616	3	1	193	1	0	0	0	0	1	0	0	0	11523	1087	38	1	765	1	PCDHA13	5	140262616	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	59390	140262616	40652644	525	105758											
PCDHB6	56130	broad.mit.edu	37	chr5	140530204	140530204	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaggcttccttgcgagtCagagatataaatgaccacgc	9	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140530204C>T	uc003lir.2	+	1	366	c.366C>T	c.(364-366)GTC>GTT	p.V122V	PCDHB6_uc011dah.1_5'UTR	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	122	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTGCGAGTCAGAGATATAA	0.473													T	140530204	C	T	140530204	2	4	193	1	0	0	0	0	0	0	0	1	11546	813	29	4		4	PCDHB6	5	140530204	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	267588	140530204	40385056	526	105759											
PCDHB12	56124	broad.mit.edu	37	chr5	140588928	140588928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaacagtcctgttggtgCtgtgttcttgcttgaaagtg	13	6	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140588928C>T	uc003liz.2	+	1	638	c.449C>T	c.(448-450)GCT>GTT	p.A150V	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	150	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTGGTGCTGTGTTCTTG	0.383													T	140588928	C	T	140588928	3	4	193	1	0	0	0	0	1	0	0	0	11537	797	28	2	451	2	PCDHB12	5	140588928	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	58724	140588928	40326332	527	105760											
PCDHB14	56122	broad.mit.edu	37	chr5	140604247	140604247	+	Frame_Shift_Del	DEL	T	T	-													tctattcaagataacctcccTtttttcctgaaaccgacctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140604247delT	uc003ljb.2	+	1	1170	c.1170delT	c.(1168-1170)CCTfs	p.P390fs	PCDHB14_uc011dal.1_Frame_Shift_Del_p.P237fs	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	390	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAACCTCCCTTTTTTCCTGA	0.443													-	140604247	T	-	140604247	7	5	193	1	0	1	0	1	0	0	0	0	11539	1596	56	0	1172	0	PCDHB14	5	140604247	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	15319	140604247	40311013	528	105761											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730469	140730469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgactgccatggatggCggggacccgcctctaagcgg	14	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140730469C>T	uc003ljo.1	+	1	642	c.642C>T	c.(640-642)GGC>GGT	p.G214G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.G214G	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	214	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGATGGCGGGGACCCGC	0.507													T	140730469	C	T	140730469	2	4	193	1	0	0	0	0	0	0	0	1	11562	755	27	1		1	PCDHGB1	5	140730469	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	126222	140730469	40184791	529	105762											
PCDHGA6	56109	broad.mit.edu	37	chr5	140753737	140753737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggggccgcggcagcGcagatccgctactctattcc	14	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140753737G>A	uc003ljy.1	+	1	87	c.87G>A	c.(85-87)GCG>GCA	p.A29A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A29A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGCAGCGCAGATCCGCT	0.642													A	140753737	G	A	140753737	2	1	193	1	0	0	0	0	0	0	0	1	11558	1074	38	1		1	PCDHGA6	5	140753737	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	23268	140753737	40161523	530	105763											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773115	140773115	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccggtttttcctcacccGatttaccgagtgaaagtcct	8	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140773115G>A	uc003lkd.1	+	1	1633	c.735G>A	c.(733-735)CCG>CCA	p.P245P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.P245P	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	245	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTCACCCGATTTACCGAG	0.567													A	140773115	G	A	140773115	2	1	193	1	0	0	0	0	0	0	0	1	11560	1045	37	1		1	PCDHGA8	5	140773115	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	19378	140773115	40142145	531	105764											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799314	140799314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgaggtgcgcatggtgCgtgctttgggtgacaaggac	18	8	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:140799314C>T	uc003lkn.1	+	1	2033	c.1888C>T	c.(1888-1890)CGT>TGT	p.R630C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.R630C|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCATGGTGCGTGCTTTGGG	0.652													T	140799314	C	T	140799314	3	4	193	1	0	0	0	0	1	0	0	0	11568	768	27	1	1890	1	PCDHGB7	5	140799314	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	26199	140799314	40115946	532	105765											
PCDH1	5097	broad.mit.edu	37	chr5	141242815	141242815	+	Frame_Shift_Del	DEL	G	G	-													acctgcttgctggggtatttGggggggttggtgcggtagct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:141242814_141242814TG>T	uc003llp.3	-	2	3199	c.3082_3082CA>A	c.(3082-3084)aaafs	p.K1028fs	PCDH1_uc011dbf.2_Frame_Shift_Del_p.K1006fs|PCDH1_uc003llq.3_Frame_Shift_Del_p.K1028fs	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	1028					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)		CTGGGGTATTTGGGGGGGTTG	0.637													-	141242815	G	-	141242815	7	5	193	1	0	1	0	1	0	0	0	0	11506	1335	47	0	728	0	PCDH1	5	141242815	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	443501	141242815	39672445	533	105766											
KIAA0141	9812	broad.mit.edu	37	chr5	141309272	141309272	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttctcacacaactctttgAgaggagctcgtcctcaggac	8	13	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:141309272A>T	uc003lls.2	+	5	660	c.538A>T	c.(538-540)AGA>TGA	p.R180*	KIAA0141_uc003llt.2_Nonsense_Mutation_p.R180*	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	180					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTCTTTGAGAGGAGCTCG	0.622													T	141309272	A	T	141309272	4	4	193	1	0	0	0	0	0	1	0	0	8156	296	11	5	556	5	KIAA0141	5	141309272	Nonsense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	66457	141309272	39605988	534	105767											
SPRY4	81848	broad.mit.edu	37	chr5	141694197	141694197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacacttcccacaggcctcGcacagcaagaagtgcttgtc	8	14	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:141694197G>A	uc003lml.2	-	2	736	c.477C>T	c.(475-477)TGC>TGT	p.C159C	SPRY4_uc010jgi.1_Silent_p.C182C	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	159	Cys-rich.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCCTCGCACAGCAAGA	0.642									Testicular_Cancer_Familial_Clustering_of				A	141694197	G	A	141694197	2	1	193	1	0	0	0	0	0	0	0	1	15107	1079	38	1		1	SPRY4	5	141694197	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	384925	141694197	39221063	535	105768											
POU4F3	5459	broad.mit.edu	37	chr5	145719822	145719822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgaacggaagcgcaaaCgcacgtccatcgcggcgccg	14	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:145719822C>T	uc003loa.2	+	2	921	c.832C>T	c.(832-834)CGC>TGC	p.R278C		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278	Homeobox.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCGCAAACGCACGTCCAT	0.612													T	145719822	C	T	145719822	3	4	193	1	0	0	0	0	1	0	0	0	12280	536	19	1	838	1	POU4F3	5	145719822	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4025625	145719822	35195438	536	105769											
TCERG1	10915	broad.mit.edu	37	chr5	145843206	145843206	+	Frame_Shift_Del	DEL	G	G	-													ctgctcctacagccacacctGtgcaaaccgttccccagccg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:145843206delG	uc003lob.2	+	5	1025	c.985delG	c.(985-987)GTGfs	p.V329fs	TCERG1_uc003loc.2_Frame_Shift_Del_p.V329fs|TCERG1_uc011dbt.1_Frame_Shift_Del_p.V329fs	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	329	Pro-rich.|Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		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)			AGCCACACCTGTGCAAACCGT	0.507													-	145843206	G	-	145843206	7	5	193	1	0	1	0	1	0	0	0	0	15682	1377	48	0	1003	0	TCERG1	5	145843206	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	123384	145843206	35072054	537	105770											
JAKMIP2	9832	broad.mit.edu	37	chr5	147016599	147016599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttagcacctctgcttggaGctgttcttgagcctggtgaa	11	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:147016599G>A	uc003loq.1	-	11	1925	c.1543C>T	c.(1543-1545)CTC>TTC	p.L515F	JAKMIP2_uc011dbx.1_Missense_Mutation_p.L473F|JAKMIP2_uc003lor.1_Missense_Mutation_p.L515F|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L515F	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	515	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTTGGAGCTGTTCTTGA	0.438													A	147016599	G	A	147016599	3	1	193	1	0	0	0	0	1	0	0	0	7941	971	34	2	933	2	JAKMIP2	5	147016599	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1173393	147016599	33898661	538	105771											
AFAP1L1	134265	broad.mit.edu	37	chr5	148697298	148697298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtctcctccaggctaccTgaacgtgctggtgaaccagg	11	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:148697298T>C	uc003lqh.2	+	12	1405	c.1274T>C	c.(1273-1275)CTG>CCG	p.L425P	AFAP1L1_uc010jgy.2_Missense_Mutation_p.L425P|AFAP1L1_uc003lqi.1_Missense_Mutation_p.L40P	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	425	PH 2.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCTACCTGAACGTGCTG	0.552											OREG0016911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	148697298	T	C	148697298	3	2	193	1	0	0	0	0	1	0	0	0	354	1580	55	3	1320	3	AFAP1L1	5	148697298	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1680699	148697298	32217962	539	105772											
GRPEL2	134266	broad.mit.edu	37	chr5	148730613	148730613	+	Frame_Shift_Del	DEL	T	T	-													ggtcttccgagggttgttgcTtttagaagcaaagctgaaaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:148730613delT	uc003lqj.2	+	4	572	c.446delT	c.(445-447)CTTfs	p.L149fs	GRPEL2_uc011dca.1_Frame_Shift_Del_p.F122fs	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial precursor	149					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTTGTTGCTTTTAGAAGCA	0.473													-	148730613	T	-	148730613	7	5	193	1	0	1	0	1	0	0	0	0	6807	1609	56	0	460	0	GRPEL2	5	148730613	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	33315	148730613	32184647	540	105773											
PDGFRB	5159	broad.mit.edu	37	chr5	149502704	149502704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaaggtgtgtttgttgCggtgcaggtagtccaccagg	17	7	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:149502704C>T	uc003lro.2	-	15	2553	c.2084G>A	c.(2083-2085)CGC>CAC	p.R695H	PDGFRB_uc010jhd.2_Missense_Mutation_p.R534H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	695	Cytoplasmic (Potential).|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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	GTGTTTGTTGCGGTGCAGGTA	0.632			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149502704	C	T	149502704	3	4	193	1	0	0	0	0	1	0	0	0	11662	768	27	1	1272	1	PDGFRB	5	149502704	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	772091	149502704	31412556	541	105774											
G3BP1	10146	broad.mit.edu	37	chr5	151179857	151179857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaccaactcttcattgGcaacctgcctcatgaagtgg	8	13	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:151179857G>A	uc003lun.2	+	10	1205	c.1034G>A	c.(1033-1035)GGC>GAC	p.G345D	G3BP1_uc003lum.2_Missense_Mutation_p.G345D|G3BP1_uc011dcu.1_Missense_Mutation_p.G163D|G3BP1_uc010jhz.2_Missense_Mutation_p.G163D|G3BP1_uc003luq.2_Missense_Mutation_p.G13D	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	345	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			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CTCTTCATTGGCAACCTGCCT	0.413													A	151179857	G	A	151179857	3	1	193	1	0	0	0	0	1	0	0	0	6141	1203	42	2	1068	2	G3BP1	5	151179857	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1677153	151179857	29735403	542	105775											
LARP1	23367	broad.mit.edu	37	chr5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C													gccacctacgtgcccgtggcINScccccccaccccagcctggc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		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)			CGTGCCCGTGGCCCCCCCCACC	0.644													C	154173391	-	C	154173390	7	5	193	1	0	1	1	0	0	0	0	0	8628	739	26	0	690	0	LARP1	5	154173390	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	2993533	154173390	26741870	543	105776											
MRPL22	29093	broad.mit.edu	37	chr5	154339601	154339602	+	Frame_Shift_Del	DEL	TA	TA	-													cgtggaattcaggtccaattTatatataggtaagattttta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:154339600_154339601TTA>T	uc003lvy.4	+	5	438_439	c.400_401TTA>T	c.(400-402)ttafs	p.L134fs	MRPL22_uc003lvz.4_Frame_Shift_Del_p.L54fs	NM_014180	NP_001014990	Q9NWU5	RM22_HUMAN	Homo sapiens mitochondrial ribosomal protein L22 (MRPL22), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134					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)			CAGGTCCAATTTATATATAGGT	0.312													-	154339602	TA	-	154339601	7	5	193	1	0	1	0	1	0	0	0	0	9788	1764	61	0	423	0	MRPL22	5	154339601	Frame_Shift_Del	DEL	TA	TCGA-CG-5726-01A-11D-1600-08	166211	154339601	26575659	544	105777											
GABRG2	2566	broad.mit.edu	37	chr5	161524835	161524835	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaggatgctgagaatttgGaatgatggtcgagtgctcta	13	5	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:161524835G>A	uc003lyz.3	+	4	877	c.519G>A	c.(517-519)TGG>TGA	p.W173*	GABRG2_uc010jjc.2_Nonsense_Mutation_p.W173*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.W173*|GABRG2_uc011dej.1_Nonsense_Mutation_p.W78*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	173	Extracellular (Probable).				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			ovary(4)|skin(1)	5	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)		TGAGAATTTGGAATGATGGTC	0.403													A	161524835	G	A	161524835	4	1	193	1	0	0	0	0	0	1	0	0	6172	1183	41	4	533	4	GABRG2	5	161524835	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7185234	161524835	19390425	545	105778											
DOCK2	1794	broad.mit.edu	37	chr5	169477281	169477281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagtgttcatctaccgcGggaaggaatatgagcgaaga	12	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:169477281G>A	uc003maf.2	+	41	4173	c.4093G>A	c.(4093-4095)GGG>AGG	p.G1365R	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.G857R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1365	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	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)			CATCTACCGCGGGAAGGAATA	0.507													A	169477281	G	A	169477281	3	1	193	1	0	0	0	0	1	0	0	0	4687	1116	39	1	4255	1	DOCK2	5	169477281	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7952446	169477281	11437979	546	105779											
STK10	6793	broad.mit.edu	37	chr5	171517345	171517346	+	Frame_Shift_Ins	INS	-	-	T													ttgcgtgtccgcttgagggtINSttttttgtacagtttcgggt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:171517344_171517345G>GT	uc003mbo.1	-	9	1876_1877	c.1576_1577C>AC	c.(1576-1578)accfs	p.T526fs		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	526							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)			CCGCTTGAGGGTTTTTTTGTAC	0.515													T	171517346	-	T	171517345	7	5	193	1	0	1	1	0	0	0	0	0	15285	1725	60	0	1370	0	STK10	5	171517345	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	2040064	171517345	9397915	547	105780											
HRH2	3274	broad.mit.edu	37	chr5	175110616	175110616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggacccactgcggtaccCtgtgctggtcaccccagttc	10	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:175110616C>A	uc003mdd.2	+	1	2153	c.380C>A	c.(379-381)CCT>CAT	p.P127H	HRH2_uc003mdc.3_Missense_Mutation_p.P127H	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	127	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	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)	CTGCGGTACCCTGTGCTGGTC	0.552													A	175110616	C	A	175110616	3	1	193	1	0	0	0	0	1	0	0	0	7356	681	24	5	382	5	HRH2	5	175110616	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3593271	175110616	5804644	548	105781											
SNCB	6620	broad.mit.edu	37	chr5	176056582	176056582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgccgcctcggtgaccCcctgcttggttttctccgcg	10	18	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:176056582C>T	uc003mep.2	-	3	517	c.74G>A	c.(73-75)GGG>GAG	p.G25E	SNCB_uc003meq.2_Missense_Mutation_p.G25E|SNCB_uc010jke.1_Missense_Mutation_p.G25E|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	25	1.|4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	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)			CTCGGTGACCCCCTGCTTGGT	0.672													T	176056582	C	T	176056582	3	4	193	1	0	0	0	0	1	0	0	0	14842	623	22	4	350	4	SNCB	5	176056582	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	945966	176056582	4858678	549	105782											
FAM193B	54540	broad.mit.edu	37	chr5	176951928	176951928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggagccactgaggttTgaggggggtagactctgagg	18	6	2	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:176951928T>C	uc003mhs.3	-	8	3044	c.1455A>G	c.(1453-1455)TCA>TCG	p.S485S	FAM193B_uc003mhr.2_Silent_p.S22S|FAM193B_uc003mht.2_Silent_p.S144S|FAM193B_uc003mhu.2_Silent_p.S197S|FAM193B_uc003mhv.2_Silent_p.S144S|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	518											0						CACTGAGGTTTGAGGGGGGTA	0.582													C	176951928	T	C	176951928	2	2	193	1	0	0	0	0	0	0	0	1	5525	1799	63	3		3	FAM193B	5	176951928	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	895346	176951928	3963332	550	105783											
SQSTM1	8878	broad.mit.edu	37	chr5	179250925	179250925	+	Frame_Shift_Del	DEL	C	C	-													gcgccccgcaacatggtgcaCcccaatgtgatctgcgatgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:179250925delC	uc003mkw.3	+	3	464	c.369delC	c.(367-369)CACfs	p.H123fs	SQSTM1_uc011dgr.1_Frame_Shift_Del_p.H39fs|SQSTM1_uc011dgs.1_Frame_Shift_Del_p.H39fs|SQSTM1_uc003mkv.3_Frame_Shift_Del_p.H123fs|SQSTM1_uc003mkx.2_Frame_Shift_Del_p.H39fs	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	123	ZZ-type.|Interaction with GABRR3 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATGGTGCACCCCAATGTGA	0.607									Paget_Disease_of_Bone				-	179250925	C	-	179250925	7	5	193	1	0	1	0	1	0	0	0	0	15129	506	18	0	379	0	SQSTM1	5	179250925	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	2298997	179250925	1664335	551	105784											
FLT4	2324	broad.mit.edu	37	chr5	180047183	180047183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctcacccaggtgcagCcgctctcgggggaattccca	12	16	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:180047183C>T	uc003mma.3	-	17	2611	c.2532G>A	c.(2530-2532)CGG>CGA	p.R844R	FLT4_uc003mlz.3_Silent_p.R844R|FLT4_uc003mmb.1_Silent_p.R377R	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	844	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	CCAGGTGCAGCCGCTCTCGGG	0.627									Congenital_Hereditary_Lymphedema				T	180047183	C	T	180047183	2	4	193	1	0	0	0	0	0	0	0	1	5944	726	26	2		2	FLT4	5	180047183	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	796258	180047183	868077	552	105785											
BTNL3	10917	broad.mit.edu	37	chr5	180432460	180432460	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagatttacaaggaagagtgTggtggcttctcagggtttcc	14	6	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr5:180432460T>A	uc003mmr.2	+	8	1117	c.989T>A	c.(988-990)GTG>GAG	p.V330E	BTNL3_uc010jlp.2_Missense_Mutation_p.V115E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3 precursor	330	B30.2/SPRY.|Cytoplasmic (Potential).				lipid metabolic process	integral to membrane					0	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)			AGGAAGAGTGTGGTGGCTTCT	0.512													A	180432460	T	A	180432460	3	1	193	1	0	0	0	0	1	0	0	0	1566	1696	59	5	1019	5	BTNL3	5	180432460	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	385277	180432460	482800	553	105786											
IRF4	3662	broad.mit.edu	37	chr6	401701	401701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgggacgggcccctggcGctgtgcaacgaccggcccaa	14	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:401701G>A	uc003msz.3	+	7	1136	c.1023G>A	c.(1021-1023)GCG>GCA	p.A341A	IRF4_uc010jne.1_Silent_p.A341A|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.A340A|IRF4_uc003mtc.1_Silent_p.A171A	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	341					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			ovary(1)	1		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)		GGCCCCTGGCGCTGTGCAACG	0.592			T	IGH@	MM 								A	401701	G	A	401701	2	1	193	1	0	0	0	0	0	0	0	1	7832	1074	38	1		1	IRF4	6	401701	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08		401701	170713366	554	105787											
MYLK4	340156	broad.mit.edu	37	chr6	2749574	2749574	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctggagtgtggttttcGtctccctctgtctccgattt	9	11	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:2749574G>A	uc003mty.3	-	2	252	c.-45C>T	c.(-47--43)GACGA>GATGA			NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4								ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGTGGTTTTCGTCTCCCTCTG	0.398													A	2749574	G	A	2749574	1	1	193	1	0	0	0	0	0	0	0	0	10059	1160	40	1		1	MYLK4	6	2749574	Translation_Start_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2347873	2749574	168365493	555	105788											
BMP6	654	broad.mit.edu	37	chr6	7879334	7879334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtgaattgaaaacagCctgcaggaagcatgagctgt	12	8	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:7879334C>T	uc003mxu.3	+	5	1410	c.1232C>T	c.(1231-1233)GCC>GTC	p.A411V		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	411					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TTGAAAACAGCCTGCAGGAAG	0.433													T	7879334	C	T	7879334	3	4	193	1	0	0	0	0	1	0	0	0	1464	739	26	2	1250	2	BMP6	6	7879334	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5129760	7879334	163235733	556	105789											
TXNDC5	81567	broad.mit.edu	37	chr6	7883385	7883385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaactgtgttcctaaagttCgtctttcgcttggctcagga	9	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:7883385C>T	uc003mxv.2	-	10	1323	c.1291G>A	c.(1291-1293)GAA>AAA	p.E431K	TXNDC5_uc003mxw.2_Missense_Mutation_p.E388K|TXNDC5_uc010jnz.2_Missense_Mutation_p.E323K	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	431	Prevents secretion from ER (Potential).				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					TCCTAAAGTTCGTCTTTCGCT	0.557													T	7883385	C	T	7883385	3	4	193	1	0	0	0	0	1	0	0	0	16796	893	31	1	11	1	TXNDC5	6	7883385	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4051	7883385	163231682	557	105790											
EEF1E1	9521	broad.mit.edu	37	chr6	8097536	8097536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatttttactggagtgCccatctacttgagtgaccct	8	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:8097536C>T	uc003mxz.2	-	2	326	c.252G>A	c.(250-252)GGG>GGA	p.G84G	EEF1E1_uc011dic.1_Silent_p.G84G	NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	84	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)					TACTGGAGTGCCCATCTACTT	0.418													T	8097536	C	T	8097536	2	4	193	1	0	0	0	0	0	0	0	1	4927	726	26	2		2	EEF1E1	6	8097536	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	214151	8097536	163017531	558	105791											
MAK	4117	broad.mit.edu	37	chr6	10830846	10830846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacactcccatacgtgccGtcccccaactgtctcatggt	7	17	1	0	rs138352622		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:10830846G>A	uc003mzl.2	-	1	265	c.36C>T	c.(34-36)GAC>GAT	p.D12D	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.D12D|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	12	ATP (By similarity).|Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CATACGTGCCGTCCCCCAACT	0.438													A	10830846	G	A	10830846	2	1	193	1	0	0	0	0	0	0	0	1	9197	1136	40	1		1	MAK	6	10830846	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2733310	10830846	160284221	559	105792											
HIVEP1	3096	broad.mit.edu	37	chr6	12120206	12120207	+	Frame_Shift_Ins	INS	-	-	A													cgtagctgagaatcacctgaINSaaaaaataccaaaatcccca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:12120205_12120206G>GA	uc003nac.3	+	3	356_357	c.177_178G>GA	c.(175-180)ctgaaafs	p.L59fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	59					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)				AGAATCACCTGAAAAAAATACC	0.396													A	12120207	-	A	12120206	7	5	193	1	0	1	1	0	0	0	0	0	7186	247	9	0	188	0	HIVEP1	6	12120206	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1289360	12120206	158994861	560	105793											
GFOD1	54438	broad.mit.edu	37	chr6	13365208	13365208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcctggaaggcctggcGcaccgcctgcatcatcttga	12	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:13365208G>A	uc003nat.1	-	2	1605	c.940C>T	c.(940-942)CGC>TGC	p.R314C	GFOD1_uc003nas.1_Missense_Mutation_p.R211C	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	314						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AAGGCCTGGCGCACCGCCTGC	0.677													A	13365208	G	A	13365208	3	1	193	1	0	0	0	0	1	0	0	0	6343	1087	38	1	236	1	GFOD1	6	13365208	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1245002	13365208	157749859	561	105794											
RANBP9	10048	broad.mit.edu	37	chr6	13639807	13639807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctcacctgaaaaatgtgCggtgcttcctttgcctgatg	9	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:13639807C>T	uc003nbb.2	-	9	1572	c.1513G>A	c.(1513-1515)GCA>ACA	p.A505T	RANBP9_uc003nba.2_Missense_Mutation_p.A164T	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	505					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAAAAATGTGCGGTGCTTCCT	0.348													T	13639807	C	T	13639807	3	4	193	1	0	0	0	0	1	0	0	0	13032	768	27	1	700	1	RANBP9	6	13639807	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	274599	13639807	157475260	562	105795											
NHLRC1	378884	broad.mit.edu	37	chr6	18122487	18122487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccgccgaaggtgtgGtggcaggtgagggctccggg	19	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:18122487G>A	uc003ncl.1	-	1	365	c.351C>T	c.(349-351)CAC>CAT	p.H117H		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	117	NHL 1.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CGAAGGTGTGGTGGCAGGTGA	0.726													A	18122487	G	A	18122487	2	1	193	1	0	0	0	0	0	0	0	1	10405	1252	44	4		4	NHLRC1	6	18122487	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4482680	18122487	152992580	563	105796											
MBOAT1	154141	broad.mit.edu	37	chr6	20126880	20126880	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaggaccagctatgacActcatgaaattgagaaggta	9	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:20126880A>C	uc003ncx.1	-	7	787	c.582T>G	c.(580-582)AGT>AGG	p.S194R	MBOAT1_uc011dji.1_Missense_Mutation_p.S45R	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	194	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	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)			CAGCTATGACACTCATGAAAT	0.363											OREG0017224	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	20126880	A	C	20126880	3	2	193	1	0	0	0	0	1	0	0	0	9356	156	6	5	933	5	MBOAT1	6	20126880	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2004393	20126880	150988187	564	105797											
GPLD1	2822	broad.mit.edu	37	chr6	24436892	24436892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccattatatacatatactCggccgtcttctcccccaatc	4	15	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:24436892C>T	uc003ned.1	-	22	2381	c.2270G>A	c.(2269-2271)CGA>CAA	p.R757Q		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	757	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						TACATATACTCGGCCGTCTTC	0.443													T	24436892	C	T	24436892	3	4	193	1	0	0	0	0	1	0	0	0	6614	884	31	1	268	1	GPLD1	6	24436892	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4310012	24436892	146678175	565	105798											
GPLD1	2822	broad.mit.edu	37	chr6	24437377	24437377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcactcaagtgcagaaCgccaccaaatcgggagaagc	11	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:24437377C>T	uc003ned.1	-	21	2272	c.2161G>A	c.(2161-2163)GTT>ATT	p.V721I		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	721	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						AAGTGCAGAACGCCACCAAAT	0.577													T	24437377	C	T	24437377	3	4	193	1	0	0	0	0	1	0	0	0	6614	536	19	1	381	1	GPLD1	6	24437377	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	485	24437377	146677690	566	105799											
C6orf62	81688	broad.mit.edu	37	chr6	24718771	24718773	+	In_Frame_Del	DEL	CTC	CTC	-													taagaactttaaattaccttCtccttgaatacaaaggcaat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:24718770_24718772TCTC>T	uc003nel.3	-	0	632_634	c.125_127GAGA>A	c.(124-129)gagaag>gAag	p.K46del		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	46						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TAAATTACCTTCTCCTTGAATAC	0.3													-	24718773	CTC	-	24718771	7	5	193	1	0	1	0	1	0	0	0	0	2368	912	32	0	583	0	C6orf62	6	24718771	In_Frame_Del	DEL	CTC	TCGA-CG-5726-01A-11D-1600-08	281394	24718771	146396296	567	105800											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252081	26252081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgaattcctttgtcaAcgatatcttcgagcgcatcg	8	10	3	1	rs76321711		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:26252081A>G	uc003nhh.2	+	1	203	c.203A>G	c.(202-204)AAC>AGC	p.N68S	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	68					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3						TCCTTTGTCAACGATATCTTC	0.562													G	26252081	A	G	26252081	3	3	193	1	0	0	0	0	1	0	0	0	7147	43	2	3	205	3	HIST1H2BH	6	26252081	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1533310	26252081	144862986	568	105801											
BTN1A1	696	broad.mit.edu	37	chr6	26509183	26509183	+	Frame_Shift_Del	DEL	C	C	-													tccaatgtcactttctctggCcccctccggcccttcttttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:26509183delC	uc003nif.3	+	7	1382	c.1362delC	c.(1360-1362)GGCfs	p.G454fs		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	454	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						CTTTCTCTGGCCCCCTCCGGC	0.478													-	26509183	C	-	26509183	7	5	193	1	0	1	0	1	0	0	0	0	1559	726	26	0	1388	0	BTN1A1	6	26509183	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	257102	26509183	144605884	569	105802											
ABT1	29777	broad.mit.edu	37	chr6	26598635	26598635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtggaacggggacaacGctttcttgcggccgatgggg	17	8	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:26598635G>A	uc003nii.2	+	3	612	c.581G>A	c.(580-582)CGC>CAC	p.R194H		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	194					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						CGGGGACAACGCTTTCTTGCG	0.612													A	26598635	G	A	26598635	3	1	193	1	0	0	0	0	1	0	0	0	101	1087	38	1	591	1	ABT1	6	26598635	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	89452	26598635	144516432	570	105803											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835239	27835241	+	In_Frame_Del	DEL	CTT	CTT	-													ccggcagccttcttagttgcCttcttcttagccggggattt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:27835239_27835241delCTT	uc003njx.2	-	1	119_121	c.67_69delAAG	c.(67-69)AAGdel	p.K23del		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	23					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTTAGTTGCCTTCTTCTTAGCC	0.606													-	27835241	CTT	-	27835239	7	5	193	1	0	1	0	1	0	0	0	0	7123	680	24	0	615	0	HIST1H1B	6	27835239	In_Frame_Del	DEL	CTT	TCGA-CG-5726-01A-11D-1600-08	1236604	27835239	143279828	571	105804											
OR10C1	442194	broad.mit.edu	37	chr6	29408484	29408484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccggatcccatctgttgCgggccgccgcaaggccttct	11	16	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:29408484C>T	uc011dlp.1	+	1	692	c.692C>T	c.(691-693)GCG>GTG	p.A231V	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCATCTGTTGCGGGCCGCCGC	0.582													T	29408484	C	T	29408484	3	4	193	1	0	0	0	0	1	0	0	0	10898	768	27	1	694	1	OR10C1	6	29408484	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1573245	29408484	141706583	572	105805											
PPP1R10	5514	broad.mit.edu	37	chr6	30571998	30571998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtatctctcgcttagccGcctcaccaaagtccttgatc	6	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:30571998G>A	uc003nqn.1	-	14	1847	c.1295C>T	c.(1294-1296)GCG>GTG	p.A432V	PPP1R10_uc010jsc.1_Missense_Mutation_p.A86V	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	432	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TCGCTTAGCCGCCTCACCAAA	0.507													A	30571998	G	A	30571998	3	1	193	1	0	0	0	0	1	0	0	0	12352	1087	38	1	1555	1	PPP1R10	6	30571998	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1163514	30571998	140543069	573	105806											
FLOT1	10211	broad.mit.edu	37	chr6	30698338	30698338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggcctcagcttccccaCgcatctgagggttaaggatg	11	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:30698338C>T	uc003nrm.2	-	11	1120	c.956G>A	c.(955-957)CGT>CAT	p.R319H	FLOT1_uc011dmr.1_Missense_Mutation_p.R271H	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	319						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						AGCTTCCCCACGCATCTGAGG	0.562													T	30698338	C	T	30698338	3	4	193	1	0	0	0	0	1	0	0	0	5936	536	19	1	339	1	FLOT1	6	30698338	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	126340	30698338	140416729	574	105807											
MUC21	394263	broad.mit.edu	37	chr6	30954121	30954121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgacctccagtgggGtcagcacagccaccatctca	10	15	2	1	rs137862032		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:30954121G>A	uc003nsh.2	+	2	420	c.169G>A	c.(169-171)GTC>ATC	p.V57I	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	57	Ser-rich.|2.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CTCCAGTGGGGTCAGCACAGC	0.567													A	30954121	G	A	30954121	3	1	193	1	0	0	0	0	1	0	0	0	9977	1261	44	4	175	4	MUC21	6	30954121	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	255783	30954121	140160946	575	105808											
HLA-B	3106	broad.mit.edu	37	chr6	31323280	31323280	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgccaggtcagtgtgaTctccgcagggtagaaaccca	12	13	2	2	rs74353323		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31323280T>A	uc003nth.2	-	4	763	c.709A>T	c.(709-711)ATC>TTC	p.I237F	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.I116F|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	237	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				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				0						GTCAGTGTGATCTCCGCAGGG	0.602									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				A	31323280	T	A	31323280	3	1	193	1	0	0	0	0	1	0	0	0	7196	1435	50	5	395	5	HLA-B	6	31323280	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	369159	31323280	139791787	576	105809											
BAT3	7917	broad.mit.edu	37	chr6	31610030	31610031	+	Frame_Shift_Ins	INS	-	-	A													acaccctgcaccactgaggtINSaaaaaactccggtgacaggc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31610030_31610031insA	uc003nvg.3	-	15	2417_2418	c.2103_2104insT	c.(2101-2106)TTTACCfs	p.F701fs	BAT3_uc003nvf.3_Frame_Shift_Ins_p.F695fs|BAT3_uc003nvh.3_Frame_Shift_Ins_p.F695fs|BAT3_uc003nvi.3_Frame_Shift_Ins_p.F695fs|BAT3_uc011dnw.1_Frame_Shift_Ins_p.F695fs|BAT3_uc011dnx.1_Frame_Shift_Ins_p.F569fs	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	701_702					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						ACCACTGAGGTAAAAAACTCCG	0.634													A	31610031	-	A	31610030	7	5	193	1	0	1	1	0	0	0	0	0	1322	1638	57	0	1338	0	BAT3	6	31610030	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	286750	31610030	139505037	577	105810											
C6orf25	80739	broad.mit.edu	37	chr6	31691442	31691442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacggccgccctggggacCgggtgaatctctcctgcgga	16	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31691442C>T	uc011doc.1	+	2	88	c.88C>T	c.(88-90)CGG>TGG	p.R30W	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.R30W|C6orf25_uc011dod.1_Missense_Mutation_p.R30W|C6orf25_uc011doe.1_Missense_Mutation_p.R30W|C6orf25_uc003nwo.2_Missense_Mutation_p.R30W|C6orf25_uc003nwn.2_Missense_Mutation_p.R30W	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	30	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						CCCTGGGGACCGGGTGAATCT	0.652													T	31691442	C	T	31691442	3	4	193	1	0	0	0	0	1	0	0	0	2360	643	23	1	94	1	C6orf25	6	31691442	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	81412	31691442	139423625	578	105811											
VARS	7407	broad.mit.edu	37	chr6	31749307	31749307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcccagcatgaccatcCgggccacccagaagaagagg	12	14	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31749307C>T	uc003nxe.2	-	21	2918	c.2495G>A	c.(2494-2496)CGG>CAG	p.R832Q	VARS_uc003nxf.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	832					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CATGACCATCCGGGCCACCCA	0.627													T	31749307	C	T	31749307	3	4	193	1	0	0	0	0	1	0	0	0	17120	652	23	1	1339	1	VARS	6	31749307	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	57865	31749307	139365760	579	105812											
HSPA1L	3305	broad.mit.edu	37	chr6	31779305	31779305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtcattgaaataggctgGcacggtaatcactgcattgg	12	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31779305G>A	uc003nxh.2	-	2	628	c.445C>T	c.(445-447)CCA>TCA	p.P149S	HSPA1L_uc010jte.2_Missense_Mutation_p.P149S	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	149					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						AAATAGGCTGGCACGGTAATC	0.483													A	31779305	G	A	31779305	3	1	193	1	0	0	0	0	1	0	0	0	7410	1203	42	2	1484	2	HSPA1L	6	31779305	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	29998	31779305	139335762	580	105813											
HSPA1A	3303	broad.mit.edu	37	chr6	31783569	31783569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatcggcatcgacctgggCaccacctactcctgcgtggg	13	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31783569C>T	uc003nxj.2	+	1	279	c.36C>T	c.(34-36)GGC>GGT	p.G12G	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Silent_p.G12G|HSPA1A_uc003nxi.1_Silent_p.G12G|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	12					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						TCGACCTGGGCACCACCTACT	0.647													T	31783569	C	T	31783569	2	4	193	1	0	0	0	0	0	0	0	1	7408	697	25	2		2	HSPA1A	6	31783569	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4264	31783569	139331498	581	105814											
ZBTB12	221527	broad.mit.edu	37	chr6	31868445	31868445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccagggccgactccAccttgacgatgcagatgtca	9	16	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:31868445A>G	uc003nyd.1	-	2	814	c.638T>C	c.(637-639)GTG>GCG	p.V213A	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCCGACTCCACCTTGACGAT	0.617													G	31868445	A	G	31868445	3	3	193	1	0	0	0	0	1	0	0	0	17522	159	6	3	745	3	ZBTB12	6	31868445	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	84876	31868445	139246622	582	105815											
NOTCH4	4855	broad.mit.edu	37	chr6	32166717	32166717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacttgagaccaatgctGtcctcgcctagtgggggccg	12	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:32166717G>A	uc003obb.2	-	24	4660	c.4521C>T	c.(4519-4521)GAC>GAT	p.D1507D	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Silent_p.D170D|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1507	Cytoplasmic (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GACCAATGCTGTCCTCGCCTA	0.557													A	32166717	G	A	32166717	2	1	193	1	0	0	0	0	0	0	0	1	10551	1368	48	4		4	NOTCH4	6	32166717	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	298272	32166717	138948350	583	105816											
TAP1	6890	broad.mit.edu	37	chr6	32818901	32818902	+	Frame_Shift_Del	DEL	CT	CT	-													tcactcagggtggacgtgtcCtctgttacccgagacatgat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:32818900_32818901CCT>C	uc003ocg.3	-	3	1205_1206	c.1050_1051AGG>G	c.(1048-1053)gaggacfs	p.E350fs	TAP1_uc011dqi.2_Frame_Shift_Del_p.E89fs	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	350	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	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GTGGACGTGTCCTCTGTTACCC	0.51													-	32818902	CT	-	32818901	7	5	193	1	0	1	0	1	0	0	0	0	15547	680	24	0	1408	0	TAP1	6	32818901	Frame_Shift_Del	DEL	CT	TCGA-CG-5726-01A-11D-1600-08	652184	32818901	138296166	584	105817											
SLC39A7	7922	broad.mit.edu	37	chr6	33169558	33169558	+	Frame_Shift_Del	DEL	T	T	-													tgctgatctcagcagctccaTtttttgtcctcttccttatc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:33169557_33169557AT>A	uc003odf.3	+	2	564	c.447_447AT>A	c.(445-447)ccafs	p.P149fs	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Frame_Shift_Del_p.P149fs|SLC39A7_uc011dqv.2_Frame_Shift_Del_p.P24fs|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	149						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						CAGCAGCTCCATTTTTTGTCC	0.552													-	33169558	T	-	33169558	7	5	193	1	0	1	0	1	0	0	0	0	14623	1493	52	0	454	0	SLC39A7	6	33169558	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	350657	33169558	137945509	585	105818											
B3GALT4	8705	broad.mit.edu	37	chr6	33245224	33245226	+	In_Frame_Del	DEL	CTT	CTT	-													tcaggctcttccggcgcctcCttctcgccgctttgctgctg					rs148070574		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:33245223_33245225CCTT>C	uc003odr.3	+	0	307_309	c.27_29CCTT>C	c.(25-30)ctcctt>ctCt	p.9_10LL>L		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	9					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCCGGCGCCTCCTTCTCGCCGCT	0.68													-	33245226	CTT	-	33245224	7	5	193	1	0	1	0	1	0	0	0	0	1249	681	24	0	30	0	B3GALT4	6	33245224	In_Frame_Del	DEL	CTT	TCGA-CG-5726-01A-11D-1600-08	75666	33245224	137869843	586	105819											
IP6K3	117283	broad.mit.edu	37	chr6	33694543	33694543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtactcggagcacaggCgggtcaggtgggcctggtgg	20	9	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:33694543C>T	uc010jvf.2	-	5	1090	c.554G>A	c.(553-555)CGC>CAC	p.R185H	IP6K3_uc003ofb.2_Missense_Mutation_p.R185H	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	185					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				0						GGAGCACAGGCGGGTCAGGTG	0.617													T	33694543	C	T	33694543	3	4	193	1	0	0	0	0	1	0	0	0	7790	768	27	1	690	1	IP6K3	6	33694543	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	449319	33694543	137420524	587	105820											
ANKS1A	23294	broad.mit.edu	37	chr6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-													tacaaaagaagtagataaaaCccccccaccccagccacctc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:34951142_34951142AC>A	uc003ojx.4	+	6	1094	c.952_952AC>A	c.(952-954)accfs	p.T318fs	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGATAAAACCCCCCCACC	0.423													-	34951143	C	-	34951143	7	5	193	1	0	1	0	1	0	0	0	0	688	507	18	0	979	0	ANKS1A	6	34951143	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1256600	34951143	136163924	588	105821											
TREM2	54209	broad.mit.edu	37	chr6	41129134	41129134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgccacccagggtatcGtctgtgatggctgtgctccc	13	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:41129134G>A	uc003opy.2	-	2	360	c.258C>T	c.(256-258)GAC>GAT	p.D86D	TREM2_uc003opz.2_Silent_p.D116D|TREM2_uc010jxl.1_Silent_p.D116D	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	86	Ig-like V-type.|Extracellular (Potential).				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGGTATCGTCTGTGATGG	0.592													A	41129134	G	A	41129134	2	1	193	1	0	0	0	0	0	0	0	1	16468	1136	40	1		1	TREM2	6	41129134	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6177991	41129134	129985933	589	105822											
TFEB	7942	broad.mit.edu	37	chr6	41657522	41657522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggacatcgtccagacGcataatgttgtcaatgacat	9	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:41657522G>A	uc003oqs.1	-	5	798	c.496C>T	c.(496-498)CGT>TGT	p.R166C	TFEB_uc003oqt.1_Missense_Mutation_p.R166C|TFEB_uc003oqu.1_Missense_Mutation_p.R180C|TFEB_uc003oqv.1_Missense_Mutation_p.R166C|TFEB_uc010jxo.1_Missense_Mutation_p.R166C|TFEB_uc003oqr.1_Missense_Mutation_p.R81C	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	166					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			ovary(1)	1	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)			TCGTCCAGACGCATAATGTTG	0.547			T	ALPHA	renal (childhood epithelioid)								A	41657522	G	A	41657522	3	1	193	1	0	0	0	0	1	0	0	0	15798	1087	38	1	958	1	TFEB	6	41657522	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	528388	41657522	129457545	590	105823											
PRICKLE4	29964	broad.mit.edu	37	chr6	41752759	41752759	+	Frame_Shift_Del	DEL	G	G	-													aagcaggaagccctgggacaGggggtagcccgcctggtact							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:41752758_41752758AG>A	uc011duf.1	+	4	574	c.326_326AG>A	c.(325-327)cagfs	p.Q109fs	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	69	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCTGGGACAGGGGGTAGCC	0.617													-	41752759	G	-	41752759	7	5	193	1	0	1	0	1	0	0	0	0	12489	991	35	0	337	0	PRICKLE4	6	41752759	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	95237	41752759	129362308	591	105824											
MRPL14	64928	broad.mit.edu	37	chr6	44081904	44081904	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgttgtccaccactcgTacccgcgtcatcttctgaat	7	15	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44081904T>C	uc003owp.2	-	3	243	c.114A>G	c.(112-114)GTA>GTG	p.V38V		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14 precursor	38					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1	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;0.0181)			CCACCACTCGTACCCGCGTCA	0.547													C	44081904	T	C	44081904	2	2	193	1	0	0	0	0	0	0	0	1	9779	1625	57	3		3	MRPL14	6	44081904	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2329145	44081904	127033163	592	105825											
CAPN11	11131	broad.mit.edu	37	chr6	44144338	44144338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggagtgggaagaggTggcctcagacatccagatgc	16	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44144338T>C	uc003owt.1	+	10	1060	c.1022T>C	c.(1021-1023)GTG>GCG	p.V341A	CAPN11_uc011dvn.1_5'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	341	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	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)			TGGGAAGAGGTGGCCTCAGAC	0.632													C	44144338	T	C	44144338	3	2	193	1	0	0	0	0	1	0	0	0	2624	1696	59	3	1060	3	CAPN11	6	44144338	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	62434	44144338	126970729	593	105826											
CAPN11	11131	broad.mit.edu	37	chr6	44145055	44145057	+	In_Frame_Del	DEL	TGT	TGT	-													gaggatgacgcagagggcaaTgttgtggtctgcacctgcct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44145055_44145057delTGT	uc003owt.1	+	12	1352_1354	c.1314_1316delTGT	c.(1312-1317)AATGTT>AAT	p.V441del	CAPN11_uc011dvn.1_In_Frame_Del_p.V95del	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	441	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	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)			CAGAGGGCAATGTTGTGGTCTGC	0.601													-	44145057	TGT	-	44145055	7	5	193	1	0	1	0	1	0	0	0	0	2624	1461	51	0	1360	0	CAPN11	6	44145055	In_Frame_Del	DEL	TGT	TCGA-CG-5726-01A-11D-1600-08	717	44145055	126970012	594	105827											
TCTE1	202500	broad.mit.edu	37	chr6	44249924	44249924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtgacaggagtgtggCggtgggctcagacagctcat	15	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:44249924C>T	uc003oxi.2	-	4	1375	c.1219G>A	c.(1219-1221)GCC>ACC	p.A407T	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	407	LRR 4.									ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGAGTGTGGCGGTGGGCTCA	0.602													T	44249924	C	T	44249924	3	4	193	1	0	0	0	0	1	0	0	0	15714	768	27	1	294	1	TCTE1	6	44249924	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	104869	44249924	126865143	595	105828											
ENPP5	59084	broad.mit.edu	37	chr6	46135796	46135796	+	Frame_Shift_Del	DEL	A	A	-													ttagggtaggtttttgtaatAaaaacattagtaacttgctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:46135796delA	uc003oxz.1	-	2	412	c.204delT	c.(202-204)TTTfs	p.F68fs	ENPP5_uc003oya.1_Frame_Shift_Del_p.F68fs|ENPP5_uc011dvz.1_Intron|ENPP5_uc010jzc.1_Frame_Shift_Del_p.F68fs	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	68						extracellular region|integral to membrane	hydrolase activity				0						TTTTTGTAATAAAAACATTAG	0.348													-	46135796	A	-	46135796	7	5	193	1	0	1	0	1	0	0	0	0	5133	359	13	0	1241	0	ENPP5	6	46135796	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1885872	46135796	124979271	596	105829											
TDRD6	221400	broad.mit.edu	37	chr6	46660256	46660256	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggaagttattcttgctgAtgaacatgggatcatagcag	12	5	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:46660256A>C	uc003oyj.2	+	1	4391	c.4391A>C	c.(4390-4392)GAT>GCT	p.D1464A	TDRD6_uc010jze.2_Missense_Mutation_p.D1458A	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1464					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ATTCTTGCTGATGAACATGGG	0.373													C	46660256	A	C	46660256	3	2	193	1	0	0	0	0	1	0	0	0	15731	333	12	5	4393	5	TDRD6	6	46660256	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	524460	46660256	124454811	597	105830											
GPR110	266977	broad.mit.edu	37	chr6	46968003	46968003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcatgatgttgtcggaggAatctccagtatgagaaaatg	12	5	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:46968003A>G	uc003oyt.2	-	15	2888	c.2689T>C	c.(2689-2691)TCC>CCC	p.S897P	GPR110_uc011dwl.1_Missense_Mutation_p.S585P	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	897	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						TTGTCGGAGGAATCTCCAGTA	0.333													G	46968003	A	G	46968003	3	3	193	1	0	0	0	0	1	0	0	0	6627	246	9	3	47	3	GPR110	6	46968003	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	307747	46968003	124147064	598	105831											
PGK2	5232	broad.mit.edu	37	chr6	49753713	49753713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctctagactggcaccGcctccagtgctgacatggct	11	13	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:49753713G>A	uc003ozu.2	-	1	1295	c.1188C>T	c.(1186-1188)GGC>GGT	p.G396G		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	396				G -> R (in Ref. 1; CAA28872).	glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					GACTGGCACCGCCTCCAGTGC	0.483													A	49753713	G	A	49753713	2	1	193	1	0	0	0	0	0	0	0	1	11791	1074	38	1		1	PGK2	6	49753713	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2785710	49753713	121361354	599	105832											
C6orf142	90523	broad.mit.edu	37	chr6	53989529	53989529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattggcaccgcagctgtcCggcccaagtctctagctatc	11	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:53989529C>T	uc003pcg.3	+	3	591	c.478C>T	c.(478-480)CGG>TGG	p.R160W	C6orf142_uc003pcf.2_Missense_Mutation_p.R160W|C6orf142_uc003pch.3_Missense_Mutation_p.R98W|C6orf142_uc011dwz.1_Missense_Mutation_p.R119W|C6orf142_uc011dxa.1_Missense_Mutation_p.R171W	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	160						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					CGCAGCTGTCCGGCCCAAGTC	0.532													T	53989529	C	T	53989529	3	4	193	1	0	0	0	0	1	0	0	0	2333	643	23	1	488	1	C6orf142	6	53989529	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4235816	53989529	117125538	600	105833											
HMGCLL1	54511	broad.mit.edu	37	chr6	55378884	55378884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtcttgcagacttaacAacctcctcaaattttcccat	4	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:55378884A>G	uc003pcn.2	-	6	753	c.594T>C	c.(592-594)GTT>GTC	p.V198V	HMGCLL1_uc003pco.2_Silent_p.V168V|HMGCLL1_uc010jzx.2_Silent_p.V69V|HMGCLL1_uc011dxc.1_Silent_p.V136V|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Silent_p.V136V	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	198							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGACTTAACAACCTCCTCAA	0.348													G	55378884	A	G	55378884	2	3	193	1	0	0	0	0	0	0	0	1	7230	117	5	3		3	HMGCLL1	6	55378884	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1389355	55378884	115736183	601	105834											
ZNF451	26036	broad.mit.edu	37	chr6	57013493	57013493	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaagctatcagaatataggTatggctttatagctctatgc	8	7	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:57013493T>C	uc003pdm.1	+	10	2832	c.2608_splice	c.e10+2	p.E870_splice	ZNF451_uc003pdl.2_Splice_Site_p.E870_splice|ZNF451_uc003pdn.1_Splice_Site_p.G870_splice|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Splice_Site_p.E870_splice	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAATATAGGTATGGCTTTAT	0.348													C	57013493	T	C	57013493	5	2	193	1	0	0	0	0	0	0	1	0	17919	1652	57	3	2648	3	ZNF451	6	57013493	Splice_Site	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1634609	57013493	114101574	602	105835											
LMBRD1	55788	broad.mit.edu	37	chr6	70500357	70500358	+	Frame_Shift_Ins	INS	-	-	A													atatatccagcagaatgccaINSaaatagcctgaaatagaaca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:70500356_70500357C>CA	uc003pfa.3	-	1	353_354	c.77_78G>TG	c.(76-78)ttgfs	p.L26fs	LMBRD1_uc003pez.3_5'UTR|LMBRD1_uc010kal.3_5'UTR|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	26					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						AGCAGAATGCCAAAATAGCCTG	0.361													A	70500358	-	A	70500357	7	5	193	1	0	1	1	0	0	0	0	0	8842	131	5	0	1605	0	LMBRD1	6	70500357	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	13486864	70500357	100614710	603	105836											
FAM135A	57579	broad.mit.edu	37	chr6	71235557	71235558	+	Frame_Shift_Ins	INS	-	-	T													taaagaccctttacaatttgINSttttttcagatgaagagact							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:71235557_71235558insT	uc003pfj.2	+	13	2903_2904	c.2770_2771insT	c.(2770-2772)GTTfs	p.V924fs	FAM135A_uc003pfi.2_Frame_Shift_Ins_p.V728fs|FAM135A_uc003pfh.2_Frame_Shift_Ins_p.V711fs|FAM135A_uc003pfl.2_Frame_Shift_Ins_p.V591fs|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_Frame_Shift_Ins_p.V295fs|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	924										central_nervous_system(1)	1						TTTACAATTTGTTTTTTCAGAT	0.371													T	71235558	-	T	71235557	7	5	193	1	0	1	1	0	0	0	0	0	5448	1377	48	0	2898	0	FAM135A	6	71235557	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	735200	71235557	99879510	604	105837	509	2									
FAM135A	57579	broad.mit.edu	37	chr6	71235558	71235559	+	Frame_Shift_Ins	INS	-	-	T													aaagaccctttacaatttgtINStttttcagatgaagagactt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:71235557_71235558G>GT	uc003pfj.3	+	12	2903_2904	c.2770_2771G>GT	c.(2770-2772)gttfs	p.V924fs	FAM135A_uc003pfi.3_Frame_Shift_Ins_p.V728fs|FAM135A_uc003pfh.3_Frame_Shift_Ins_p.V711fs|FAM135A_uc003pfl.3_Frame_Shift_Ins_p.V591fs|FAM135A_uc003pfn.3_Intron|FAM135A_uc003pfo.1_Frame_Shift_Ins_p.V295fs|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	924										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						TTTACAATTTGTTTTTTCAGAT	0.371													T	71235559	-	T	71235558	7	5	193	1	0	1	1	0	0	0	0	0	5448	1725	60	0	2899	0	FAM135A	6	71235558	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	71235558	99879509	605	105838	509	2									
SLC17A5	26503	broad.mit.edu	37	chr6	74304881	74304881	+	Frame_Shift_Del	DEL	A	A	-													agtgtaaagaaaatggcaccAaaaacattaatagcagcagc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:74304880_74304880CA>C	uc003phn.4	-	10	1536	c.1408_1408TG>G	c.(1408-1410)ggtfs	p.G470fs	SLC17A5_uc010kax.3_Frame_Shift_Del_p.G129fs|SLC17A5_uc010kay.3_Non-coding_Transcript	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	470					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						AAAATGGCACCAAAAACATTA	0.368													-	74304881	A	-	74304881	7	5	193	1	0	1	0	1	0	0	0	0	14420	127	5	0	84	0	SLC17A5	6	74304881	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	3069323	74304881	96810186	606	105839											
CD109	135228	broad.mit.edu	37	chr6	74472143	74472143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgaaaggagacgtaacGcttacatttttacctttatc	7	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:74472143G>A	uc003php.2	+	8	1220	c.795G>A	c.(793-795)ACG>ACA	p.T265T	CD109_uc010kaz.2_Silent_p.T265T|CD109_uc003phq.2_Silent_p.T265T|CD109_uc010kba.2_Silent_p.T188T	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						GAGACGTAACGCTTACATTTT	0.294													A	74472143	G	A	74472143	2	1	193	1	0	0	0	0	0	0	0	1	2963	1074	38	1		1	CD109	6	74472143	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	167262	74472143	96642924	607	105840											
IMPG1	3617	broad.mit.edu	37	chr6	76751759	76751760	+	Frame_Shift_Ins	INS	-	-	T													catagttgacattttgtacaINSttttttcagtactttcagtt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:76751759_76751760insT	uc003pik.1	-	2	281_282	c.151_152insA	c.(151-153)ATGfs	p.M51fs		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	51					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CATTTTGTACATTTTTTCAGTA	0.356													T	76751760	-	T	76751759	7	5	193	1	0	1	1	0	0	0	0	0	7728	217	8	0	2305	0	IMPG1	6	76751759	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	2279616	76751759	94363308	608	105841	510	2									
IMPG1	3617	broad.mit.edu	37	chr6	76751760	76751761	+	Frame_Shift_Ins	INS	-	-	T													atagttgacattttgtacatINStttttcagtactttcagttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:76751759_76751760A>AT	uc003pik.1	-	1	281_282	c.151_152T>AT	c.(151-153)atgfs	p.M51fs		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	51					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.M51I(2)		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)				CATTTTGTACATTTTTTCAGTA	0.356													T	76751761	-	T	76751760	7	5	193	1	0	1	1	0	0	0	0	0	7728	1493	52	0	2306	0	IMPG1	6	76751760	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	76751760	94363307	609	105842	510	2									
ELOVL4	6785	broad.mit.edu	37	chr6	80629257	80629257	+	Frame_Shift_Del	DEL	A	A	-													aaggaattcaactgggctccAaaaaatgctttagaaaaaca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:80629256_80629256CA>C	uc003pja.4	-	4	869	c.550_550TG>G	c.(550-552)ggafs	p.G184fs	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	184					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)	AACTGGGCTCCAAAAAATGCT	0.328													-	80629257	A	-	80629257	7	5	193	1	0	1	0	1	0	0	0	0	5076	127	5	0	403	0	ELOVL4	6	80629257	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	3877497	80629257	90485810	610	105843											
RNGTT	8732	broad.mit.edu	37	chr6	89554159	89554159	+	Frame_Shift_Del	DEL	T	T	-													gtcaatgagcccagtcttcaTtttttcgtgtcgaggactta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:89554158_89554158AT>A	uc003pmr.2	-	10	1407	c.1187_1187AT>T	c.(1186-1188)atgfs	p.M396fs	RNGTT_uc003pms.2_Frame_Shift_Del_p.M396fs|RNGTT_uc011dzu.1_Frame_Shift_Del_p.M336fs|RNGTT_uc003pmt.2_Frame_Shift_Del_p.M396fs	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	396	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)		CCCAGTCTTCATTTTTTCGTG	0.348													-	89554159	T	-	89554159	7	5	193	1	0	1	0	1	0	0	0	0	13503	1493	52	0	631	0	RNGTT	6	89554159	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	8924902	89554159	81560908	611	105844											
PM20D2	135293	broad.mit.edu	37	chr6	89871856	89871856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcagttctacactctGcggacggccaaagctctggc	11	13	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:89871856G>A	uc003pmz.2	+	7	1280	c.1185G>A	c.(1183-1185)CTG>CTA	p.L395L		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	aminoacylase 1-like 2	395							hydrolase activity				0		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TCTACACTCTGCGGACGGCCA	0.408													A	89871856	G	A	89871856	2	1	193	1	0	0	0	0	0	0	0	1	12129	1306	46	2		2	PM20D2	6	89871856	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	317697	89871856	81243211	612	105845											
MDN1	23195	broad.mit.edu	37	chr6	90354841	90354841	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcaaggaaaaggcctcGcccatcagagactaccagga	10	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:90354841G>A	uc003pnn.1	-	101	16611	c.16495C>T	c.(16495-16497)CGA>TGA	p.R5499*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5499	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		AAAAGGCCTCGCCCATCAGAG	0.443													A	90354841	G	A	90354841	4	1	193	1	0	0	0	0	0	1	0	0	9415	1095	38	1	303	1	MDN1	6	90354841	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	482985	90354841	80760226	613	105846											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577656	90577656	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaatacgacgtgcaacAccatctacctcttctggcct	7	13	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:90577656A>G	uc003pnr.2	+	8	4843	c.4647A>G	c.(4645-4647)ACA>ACG	p.T1549T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.T1549T|CASP8AP2_uc011dzz.1_Silent_p.T1549T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1549					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			ovary(2)	2		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)		GACGTGCAACACCATCTACCT	0.433													G	90577656	A	G	90577656	2	3	193	1	0	0	0	0	0	0	0	1	2678	146	6	3		3	CASP8AP2	6	90577656	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	222815	90577656	80537411	614	105847											
C6orf167	253714	broad.mit.edu	37	chr6	97711302	97711302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatggacactggtcactcAttaatgattcagaagaccta	7	9	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:97711302A>G	uc003ppb.2	-	9	1117	c.851T>C	c.(850-852)ATG>ACG	p.M284T	C6orf167_uc011eaf.1_Missense_Mutation_p.M284T|C6orf167_uc010kcn.1_Missense_Mutation_p.M58T|C6orf167_uc010kco.1_Intron|C6orf167_uc003ppc.2_Missense_Mutation_p.M284T	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	284					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CTGGTCACTCATTAATGATTC	0.318													G	97711302	A	G	97711302	3	3	193	1	0	0	0	0	1	0	0	0	2342	217	8	3	2948	3	C6orf167	6	97711302	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	7133646	97711302	73403765	615	105848											
POU3F2	5454	broad.mit.edu	37	chr6	99282812	99282812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcctccatcgtgcacgcCgagccgcccggcggcatgca	13	18	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:99282812C>T	uc003ppe.2	+	1	233	c.63C>T	c.(61-63)GCC>GCT	p.A21A		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	21					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		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)		TCGTGCACGCCGAGCCGCCCG	0.697													T	99282812	C	T	99282812	2	4	193	1	0	0	0	0	0	0	0	1	12275	639	23	1		1	POU3F2	6	99282812	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1571510	99282812	71832255	616	105849											
PDSS2	57107	broad.mit.edu	37	chr6	107780431	107780431	+	Frame_Shift_Del	DEL	G	G	-													gggaccaccacaggcgacgcGgggaacccgaggctccaaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:107780431delG	uc003prt.2	-	1	349	c.59delC	c.(58-60)CCGfs	p.P20fs	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Frame_Shift_Del_p.P20fs|PDSS2_uc003pru.2_Frame_Shift_Del_p.P20fs|PDSS2_uc003prv.2_Frame_Shift_Del_p.P20fs	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	prenyl diphosphate synthase, subunit 2	20					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	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)		CAGGCGACGCGGGGAACCCGA	0.617											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	107780431	G	-	107780431	7	5	193	1	0	1	0	1	0	0	0	0	11694	1116	39	0	1172	0	PDSS2	6	107780431	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	8497619	107780431	63334636	617	105850											
FOXO3	2309	broad.mit.edu	37	chr6	108985249	108985249	+	Frame_Shift_Del	DEL	G	G	-													catcccagccatcgcccactGggggactcatgcagcggagc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:108985249delG	uc003psk.2	+	3	1529	c.1213delG	c.(1213-1215)GGGfs	p.G405fs	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Frame_Shift_Del_p.G405fs|FOXO3_uc011ean.1_Frame_Shift_Del_p.G185fs|FOXO3_uc010kdj.1_Frame_Shift_Del_p.G185fs	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	405					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATCGCCCACTGGGGGACTCAT	0.587													-	108985249	G	-	108985249	7	5	193	1	0	1	0	1	0	0	0	0	6024	1348	47	0	1219	0	FOXO3	6	108985249	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	1204818	108985249	62129818	618	105851											
REV3L	5980	broad.mit.edu	37	chr6	111695978	111695978	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtttatttgtctgatttcGtttgttccttttcttagtaa	6	5	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:111695978G>A	uc003puy.3	-	13	3903	c.3580C>T	c.(3580-3582)CGA>TGA	p.R1194*	REV3L_uc003pux.3_Nonsense_Mutation_p.R1116*|REV3L_uc003puz.3_Nonsense_Mutation_p.R1116*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1194					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		GTCTGATTTCGTTTGTTCCTT	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111695978	G	A	111695978	4	1	193	1	0	0	0	0	0	1	0	0	13240	1153	40	1	5892	1	REV3L	6	111695978	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2710729	111695978	59419089	619	105852											
GOPC	57120	broad.mit.edu	37	chr6	117894769	117894769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcaggtcccttcatatctCgtcctagcaattgtatctgt	8	11	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:117894769C>T	uc003pxu.2	-	5	907	c.677G>A	c.(676-678)CGA>CAA	p.R226Q	GOPC_uc003pxq.1_5'UTR|GOPC_uc003pxv.2_Missense_Mutation_p.R218Q	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	226					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		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)		CTTCATATCTCGTCCTAGCAA	0.393			O	ROS1	glioblastoma								T	117894769	C	T	117894769	3	4	193	1	0	0	0	0	1	0	0	0	6573	884	31	1	731	1	GOPC	6	117894769	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6198791	117894769	53220298	620	105853											
CLVS2	134829	broad.mit.edu	37	chr6	123376954	123376954	+	Frame_Shift_Del	DEL	T	T	-													tcttcttgcatttatagataTttttgcatggtaacaacctg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:123376954delT	uc003pzi.1	+	5	1548	c.679delT	c.(679-681)TTTfs	p.F227fs		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	227	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TTTATAGATATTTTTGCATGG	0.438													-	123376954	T	-	123376954	7	5	193	1	0	1	0	1	0	0	0	0	3572	1493	52	0	693	0	CLVS2	6	123376954	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	5482185	123376954	47738113	621	105854											
HDDC2	51020	broad.mit.edu	37	chr6	125619868	125619868	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacactgacctcttctcGcctatgtttttcttctttgg	6	12	5	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:125619868G>A	uc003qaa.1	-	3	505	c.301C>T	c.(301-303)CGA>TGA	p.R101*	HDDC2_uc003qab.1_Intron	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	101	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		ACCTCTTCTCGCCTATGTTTT	0.274													A	125619868	G	A	125619868	4	1	193	1	0	0	0	0	0	1	0	0	7016	1095	38	1	329	1	HDDC2	6	125619868	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2242914	125619868	45495199	622	105855											
LAMA2	3908	broad.mit.edu	37	chr6	129766950	129766950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaattgataaaccaagctcGgaaacaagccaattctgtaa	8	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:129766950G>A	uc003qbn.2	+	44	6518	c.6413G>A	c.(6412-6414)CGG>CAG	p.R2138Q	LAMA2_uc003qbo.2_Missense_Mutation_p.R2138Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2138	Domain II and I.|Potential.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACCAAGCTCGGAAACAAGCC	0.378													A	129766950	G	A	129766950	3	1	193	1	0	0	0	0	1	0	0	0	8606	1116	39	1	6591	1	LAMA2	6	129766950	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4147082	129766950	41348117	623	105856											
EYA4	2070	broad.mit.edu	37	chr6	133846386	133846386	+	Frame_Shift_Del	DEL	A	A	-													gtagaagaagaacaggcagcAaaaaaggtaacctgtctcaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:133846386delA	uc003qec.3	+	19	2291	c.1833delA	c.(1831-1833)GCAfs	p.A611fs	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Intron|EYA4_uc003qee.3_Frame_Shift_Del_p.A588fs|EYA4_uc011ecs.1_Frame_Shift_Del_p.A617fs|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	611					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			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACAGGCAGCAAAAAAGGTAA	0.398													-	133846386	A	-	133846386	7	5	193	1	0	1	0	1	0	0	0	0	5331	117	5	0	2008	0	EYA4	6	133846386	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	4079436	133846386	37268681	624	105857											
MAP3K5	4217	broad.mit.edu	37	chr6	136926362	136926362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttgaacatagctgcTtgtggttctcccagttcata	9	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:136926362T>C	uc003qhc.2	-	19	3025	c.2664A>G	c.(2662-2664)CAA>CAG	p.Q888Q	MAP3K5_uc011edj.1_Silent_p.Q135Q|MAP3K5_uc011edk.1_Silent_p.Q733Q	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	888	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			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACATAGCTGCTTGTGGTTCTC	0.403													C	136926362	T	C	136926362	2	2	193	1	0	0	0	0	0	0	0	1	9253	1606	56	3		3	MAP3K5	6	136926362	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3079976	136926362	34188705	625	105858											
AKAP12	9590	broad.mit.edu	37	chr6	151672225	151672225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgtcgctgacgggaCgagggcagctaccattattg	14	10	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:151672225C>T	uc011eep.1	+	4	2939	c.2699C>T	c.(2698-2700)ACG>ATG	p.T900M	AKAP12_uc003qoe.2_Missense_Mutation_p.T900M|AKAP12_uc003qof.2_Missense_Mutation_p.T802M|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T795M	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	900					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCTGACGGGACGAGGGCAGCT	0.522													T	151672225	C	T	151672225	3	4	193	1	0	0	0	0	1	0	0	0	448	536	19	1	2738	1	AKAP12	6	151672225	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	14745863	151672225	19442842	626	105859											
C6orf211	79624	broad.mit.edu	37	chr6	151790214	151790214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggaccactggaaaatAtggaatatttcagtacgatg	11	6	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:151790214A>G	uc003qok.1	+	5	1554	c.1295A>G	c.(1294-1296)TAT>TGT	p.Y432C	C6orf211_uc011ees.1_Missense_Mutation_p.Y313C	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	432							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACTGGAAAATATGGAATATTT	0.478													G	151790214	A	G	151790214	3	3	193	1	0	0	0	0	1	0	0	0	2354	449	16	3	1313	3	C6orf211	6	151790214	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	117989	151790214	19324853	627	105860											
SYNE1	23345	broad.mit.edu	37	chr6	152540160	152540160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgaagtctgctgtttgCagagagcttgctccagggca	13	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:152540160C>T	uc010kiw.2	-	120	22624	c.22022G>A	c.(22021-22023)TGC>TAC	p.C7341Y	SYNE1_uc010kiv.2_Missense_Mutation_p.C1865Y|SYNE1_uc003qos.3_Missense_Mutation_p.C1865Y|SYNE1_uc003qot.3_Missense_Mutation_p.C7270Y|SYNE1_uc003qou.3_Missense_Mutation_p.C7341Y|SYNE1_uc003qor.3_Missense_Mutation_p.C241Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7341	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGTTTGCAGAGAGCTTG	0.438										HNSCC(10;0.0054)			T	152540160	C	T	152540160	3	4	193	1	0	0	0	0	1	0	0	0	15442	710	25	2	4552	2	SYNE1	6	152540160	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	749946	152540160	18574907	628	105861											
SYNE1	23345	broad.mit.edu	37	chr6	152623111	152623111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcagcagcatggtggCgtgcttggctttcatcgtca	12	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:152623111C>T	uc010kiw.2	-	92	18036	c.17434G>A	c.(17434-17436)GCC>ACC	p.A5812T	SYNE1_uc010kiv.2_Missense_Mutation_p.A336T|SYNE1_uc003qos.3_Missense_Mutation_p.A336T|SYNE1_uc003qot.3_Missense_Mutation_p.A5741T|SYNE1_uc003qou.3_Missense_Mutation_p.A5812T|SYNE1_uc010kiy.1_Missense_Mutation_p.A34T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5812	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCATGGTGGCGTGCTTGGCT	0.587										HNSCC(10;0.0054)			T	152623111	C	T	152623111	3	4	193	1	0	0	0	0	1	0	0	0	15442	768	27	1	9252	1	SYNE1	6	152623111	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	82951	152623111	18491956	629	105862											
RBM16	22828	broad.mit.edu	37	chr6	155114112	155114112	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctatgagcaatactccaggTatgttgctttaatatagatt	8	6	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:155114112T>C	uc003qqa.2	+	6	707	c.475_splice	c.e6+2	p.G159_splice	RBM16_uc011efj.1_Splice_Site_p.G225_splice|RBM16_uc011efk.1_Splice_Site_p.G204_splice|RBM16_uc003qpz.2_Splice_Site_p.G159_splice|RBM16_uc010kji.2_Splice_Site_p.G180_splice	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16						mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		ATACTCCAGGTATGTTGCTTT	0.398													C	155114112	T	C	155114112	5	2	193	1	0	0	0	0	0	0	1	0	13118	1652	57	3	495	3	RBM16	6	155114112	Splice_Site	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2491001	155114112	16000955	630	105863											
SYNJ2	8871	broad.mit.edu	37	chr6	158508009	158508010	+	Frame_Shift_Ins	INS	-	-	C													acctcaacccccgcagagacINSccccccctccaagtaagact							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:158508008_158508009A>AC	uc003qqx.2	+	22	3436_3437	c.3330_3331A>AC	c.(3328-3333)agacccfs	p.R1110fs	SYNJ2_uc003qqw.2_Frame_Shift_Ins_p.R1110fs|SYNJ2_uc003qqy.2_Frame_Shift_Ins_p.R873fs|SYNJ2_uc003qqz.2_Frame_Shift_Ins_p.R727fs|SYNJ2_uc003qra.2_Frame_Shift_Ins_p.R453fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1110	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1113fs*5(1)		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)		CCCCGCAGAGACCCCCCCCTCC	0.634													C	158508010	-	C	158508009	7	5	193	1	0	1	1	0	0	0	0	0	15450	507	18	0	3421	0	SYNJ2	6	158508009	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	3393897	158508009	12607058	631	105864											
TULP4	56995	broad.mit.edu	37	chr6	158925205	158925205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagattgagttagaggggCggcaggtaagacctcagacc	14	9	1	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:158925205C>T	uc003qrf.2	+	13	5867	c.4510C>T	c.(4510-4512)CGG>TGG	p.R1504W	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1504	TUB.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		GTTAGAGGGGCGGCAGGTAAG	0.607													T	158925205	C	T	158925205	3	4	193	1	0	0	0	0	1	0	0	0	16773	759	27	1	4560	1	TULP4	6	158925205	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	417196	158925205	12189862	632	105865											
RSPH3	83861	broad.mit.edu	37	chr6	159399331	159399331	+	Frame_Shift_Del	DEL	T	T	-													caccatgctatattccatggTtttttcaacttcattcatta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:159399331delT	uc003qrx.2	-	7	1523	c.1333delA	c.(1333-1335)ACCfs	p.T445fs	RSPH3_uc010kju.2_Frame_Shift_Del_p.T349fs	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	445										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TATTCCATGGTTTTTTCAACT	0.294													-	159399331	T	-	159399331	7	5	193	1	0	1	0	1	0	0	0	0	13705	1725	60	0	357	0	RSPH3	6	159399331	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	474126	159399331	11715736	633	105866											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844007	166844007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcactggcttcgcgctcCgagaagtatctctgccggag	12	13	2	1	rs140163975		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:166844007C>T	uc003qvb.1	-	16	1734	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	RPS6KA2_uc011ego.1_Silent_p.S416S|RPS6KA2_uc010kkl.1_Silent_p.S416S|RPS6KA2_uc003qvc.1_Silent_p.S513S|RPS6KA2_uc003qvd.1_Silent_p.S530S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	505	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|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		CTTCGCGCTCCGAGAAGTATC	0.602													T	166844007	C	T	166844007	2	4	193	1	0	0	0	0	0	0	0	1	13651	639	23	1		1	RPS6KA2	6	166844007	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	7444676	166844007	4271060	634	105867											
WDR27	253769	broad.mit.edu	37	chr6	170059556	170059556	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggactgaccttttgatcCgcagtgcggttcctcagggc	12	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr6:170059556C>A	uc003qwx.2	-	11	1708	c.1188G>T	c.(1186-1188)GCG>GCT	p.A396A	WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Silent_p.A396A|WDR27_uc003qwy.2_Silent_p.A269A|WDR27_uc003qwz.1_Silent_p.A129A			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	366										pancreas(1)	1		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)		CCTTTTGATCCGCAGTGCGGT	0.542													A	170059556	C	A	170059556	2	1	193	1	0	0	0	0	0	0	0	1	17281	639	23	5		5	WDR27	6	170059556	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3215549	170059556	1055511	635	105868											
C7orf50	84310	broad.mit.edu	37	chr7	1049694	1049694	+	Frame_Shift_Del	DEL	T	T	-													tctcctctttcttccgttccTttttcagcttcctttccagg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:1049694delT	uc003sju.2	-	3	285	c.215delA	c.(214-216)AAGfs	p.K72fs	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Frame_Shift_Del_p.K72fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.K72fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	72							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTTCCGTTCCTTTTTCAGCTT	0.647													-	1049694	T	-	1049694	7	5	193	1	0	1	0	1	0	0	0	0	2399	1609	56	0	381	0	C7orf50	7	1049694	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08		1049694	158088969	636	105869											
MICALL2	79778	broad.mit.edu	37	chr7	1478544	1478544	+	Frame_Shift_Del	DEL	G	G	-													gcactcgggcttcctggccaGggggctccggccgaagccag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:1478543_1478543AG>A	uc003skj.4	-	9	2202	c.2055_2055CT>T	c.(2053-2055)cctfs	p.P685fs	MICALL2_uc003ski.4_Frame_Shift_Del_p.P172fs	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	685						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)		CTTCCTGGCCAGGGGGCTCCG	0.667													-	1478544	G	-	1478544	7	5	193	1	0	1	0	1	0	0	0	0	9574	1000	35	0	692	0	MICALL2	7	1478544	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	428850	1478544	157660119	637	105870											
INTS1	26173	broad.mit.edu	37	chr7	1538951	1538951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcgatcagcaactccGtctggctgtcctcctcctcc	7	20	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:1538951G>A	uc003skn.2	-	7	991	c.890C>T	c.(889-891)ACG>ATG	p.T297M	INTS1_uc003skq.2_Missense_Mutation_p.T297M	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	297					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGCAACTCCGTCTGGCTGTC	0.637													A	1538951	G	A	1538951	3	1	193	1	0	0	0	0	1	0	0	0	7775	1145	40	1	5850	1	INTS1	7	1538951	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	60407	1538951	157599712	638	105871											
CHST12	55501	broad.mit.edu	37	chr7	2472864	2472864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgcggtgcgccctaccGcgacccgctgcgcatcccgc	12	21	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:2472864G>A	uc003smc.2	+	2	725	c.590G>A	c.(589-591)CGC>CAC	p.R197H	CHST12_uc003smd.2_Missense_Mutation_p.R197H	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	197	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGCCCTACCGCGACCCGCTG	0.677													A	2472864	G	A	2472864	3	1	193	1	0	0	0	0	1	0	0	0	3400	1087	38	1	592	1	CHST12	7	2472864	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	933913	2472864	156665799	639	105872											
IQCE	23288	broad.mit.edu	37	chr7	2618149	2618149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctggcagagaaaaggcccGatgccagttgggtgagtatg	15	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:2618149G>A	uc003smo.3	+	8	803	c.619G>A	c.(619-621)GAT>AAT	p.D207N	IQCE_uc010ksm.1_Missense_Mutation_p.D207N|IQCE_uc003sml.1_Missense_Mutation_p.D207N|IQCE_uc011jvy.1_Missense_Mutation_p.D191N|IQCE_uc011jvz.1_Missense_Mutation_p.D142N|IQCE_uc003smk.3_Missense_Mutation_p.D191N|IQCE_uc003smn.3_Missense_Mutation_p.D142N	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	207	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAAAAGGCCCGATGCCAGTTG	0.587													A	2618149	G	A	2618149	3	1	193	1	0	0	0	0	1	0	0	0	7806	1058	37	1	649	1	IQCE	7	2618149	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	145285	2618149	156520514	640	105873											
SDK1	221935	broad.mit.edu	37	chr7	4198100	4198100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaggcccttcacctcctAcaagctgcgcctgaaagcca	8	16	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:4198100A>G	uc003smx.2	+	31	4785	c.4646A>G	c.(4645-4647)TAC>TGC	p.Y1549C	SDK1_uc010kso.2_Missense_Mutation_p.Y825C|SDK1_uc003smy.2_Missense_Mutation_p.Y36C	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1549	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		TTCACCTCCTACAAGCTGCGC	0.622													G	4198100	A	G	4198100	3	3	193	1	0	0	0	0	1	0	0	0	13968	391	14	3	4768	3	SDK1	7	4198100	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1579951	4198100	154940563	641	105874											
PAPOLB	56903	broad.mit.edu	37	chr7	4901238	4901238	+	Frame_Shift_Del	DEL	T	T	-													tcctttaccagattatttaaTttttccaaaactaaaatcct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:4901237_4901237AT>A	uc003snk.3	-	0	389	c.205_205AT>T	c.(205-207)ttafs	p.L69fs	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	68					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity	p.L68V(2)		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)		AGATTATTTAATTTTTCCAAA	0.448													-	4901238	T	-	4901238	7	5	193	1	0	1	0	1	0	0	0	0	11430	1490	52	0	1713	0	PAPOLB	7	4901238	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	703138	4901238	154237425	642	105875											
WIPI2	26100	broad.mit.edu	37	chr7	5267771	5267771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttgttggtgggtgccgcCgacgggtacctgtacatgta	16	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5267771C>T	uc003snv.2	+	11	1266	c.1050C>T	c.(1048-1050)GCC>GCT	p.A350A	WIPI2_uc003snw.2_Silent_p.A350A|WIPI2_uc003snx.2_Silent_p.A332A|WIPI2_uc003sny.2_Silent_p.A332A|WIPI2_uc010ksv.2_Silent_p.A206A|WIPI2_uc003soa.2_Silent_p.A291A|WIPI2_uc003sob.2_Silent_p.A93A	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	350	WD 3.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGGGTGCCGCCGACGGGTACC	0.572													T	5267771	C	T	5267771	2	4	193	1	0	0	0	0	0	0	0	1	17368	639	23	1		1	WIPI2	7	5267771	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	366533	5267771	153870892	643	105876											
SLC29A4	222962	broad.mit.edu	37	chr7	5334519	5334520	+	Frame_Shift_Ins	INS	-	-	G													ccagcttctacgggtacacgINSgggatgctgcccaagcggta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5334518_5334519C>CG	uc003sod.3	+	5	733_734	c.572_573C>CG	c.(571-573)acgfs	p.T191fs	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Frame_Shift_Ins_p.T191fs|SLC29A4_uc003soe.3_Frame_Shift_Ins_p.T177fs	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	191					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)		TACGGGTACACGGGGATGCTGC	0.594													G	5334520	-	G	5334519	7	5	193	1	0	1	1	0	0	0	0	0	14537	1103	39	0	591	0	SLC29A4	7	5334519	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	66748	5334519	153804144	644	105877											
TNRC18	84629	broad.mit.edu	37	chr7	5347923	5347923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcattttcgtccacatgCgaggactggtatagcgcgcg	12	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5347923C>T	uc003soi.3	-	30	9070	c.8721G>A	c.(8719-8721)TCG>TCA	p.S2907S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2907	BAH.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGTCCACATGCGAGGACTGGT	0.592													T	5347923	C	T	5347923	2	4	193	1	0	0	0	0	0	0	0	1	16336	755	27	1		1	TNRC18	7	5347923	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	13404	5347923	153790740	645	105878											
TNRC18	84629	broad.mit.edu	37	chr7	5391519	5391519	+	Frame_Shift_Del	DEL	A	A	-													ggcctctcgaagcagcagacAaaacggctgcttcctgctgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5391519delA	uc003soi.3	-	17	5750	c.5401delT	c.(5401-5403)TGTfs	p.C1801fs	TNRC18_uc003soj.2_Frame_Shift_Del_p.C183fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1801							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGCAGCAGACAAAACGGCTGC	0.602													-	5391519	A	-	5391519	7	5	193	1	0	1	0	1	0	0	0	0	16336	130	5	0	3561	0	TNRC18	7	5391519	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	43596	5391519	153747144	646	105879											
TNRC18	84629	broad.mit.edu	37	chr7	5399108	5399108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccccattccgatgaggGcatcatgttcctcctcagac	7	15	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:5399108G>A	uc003soi.3	-	15	5103	c.4754C>T	c.(4753-4755)GCC>GTC	p.A1585V	TNRC18_uc003soj.2_5'Flank	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1585							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCGATGAGGGCATCATGTTC	0.532													A	5399108	G	A	5399108	3	1	193	1	0	0	0	0	1	0	0	0	16336	1203	42	2	4216	2	TNRC18	7	5399108	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7589	5399108	153739555	647	105880											
COL28A1	340267	broad.mit.edu	37	chr7	7529062	7529062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgggtcctggagctccCggtcttccttcttggcctct	10	15	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:7529062C>T	uc003src.1	-	13	1239	c.1122G>A	c.(1120-1122)CCG>CCA	p.P374P	COL28A1_uc011jxe.1_Silent_p.P57P|COL28A1_uc003srd.2_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	374					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTGGAGCTCCCGGTCTTCCTT	0.383													T	7529062	C	T	7529062	2	4	193	1	0	0	0	0	0	0	0	1	3686	639	23	1		1	COL28A1	7	7529062	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2129954	7529062	151609601	648	105881											
THSD7A	221981	broad.mit.edu	37	chr7	11630185	11630185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccctccacagagggccGtctggttgccgcgcctcttg	12	17	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:11630185G>A	uc003ssf.3	-	4	1607	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	452	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGAGGGCCGTCTGGTTGCC	0.542										HNSCC(18;0.044)			A	11630185	G	A	11630185	3	1	193	1	0	0	0	0	1	0	0	0	15876	1145	40	1	3714	1	THSD7A	7	11630185	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4101123	11630185	147508478	649	105882											
ETV1	2115	broad.mit.edu	37	chr7	13971290	13971290	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtttggctcagacatctgGcgttggtacataggacgtcc	12	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:13971290G>C	uc011jxq.1	-	9	1378	c.639C>G	c.(637-639)CGC>CGG	p.R213R	ETV1_uc011jxn.1_Silent_p.R173R|ETV1_uc011jxo.1_Silent_p.R110R|ETV1_uc011jxp.1_Silent_p.R155R|ETV1_uc003ssw.3_Silent_p.R213R|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.R195R|ETV1_uc011jxs.1_Silent_p.R195R|ETV1_uc010ktv.2_Silent_p.R82R	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	213					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						CAGACATCTGGCGTTGGTACA	0.532			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								C	13971290	G	C	13971290	2	2	193	1	0	0	0	0	0	0	0	1	5277	1190	42	5		5	ETV1	7	13971290	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2341105	13971290	145167373	650	105883											
CBX3	11335	broad.mit.edu	37	chr7	26245999	26245999	+	Frame_Shift_Del	DEL	A	A	-													ttattttagcaaaaaatgggAaaaaaacagaatggaaagag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:26245998_26245998GA>G	uc003sxt.3	+	2	414	c.35_35GA>G	c.(34-36)ggafs	p.G12fs	CBX3_uc003sxu.3_Frame_Shift_Del_p.G12fs|CBX3_uc003sxv.3_Frame_Shift_Del_p.G12fs	NM_007276	NP_057671	Q13185	CBX3_HUMAN	Homo sapiens chromobox homolog 3 (CBX3), transcript variant 1, mRNA.	12					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	p.G12G(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						CAAAAAATGGGAAAAAAACAG	0.318													-	26245999	A	-	26245999	7	5	193	1	0	1	0	1	0	0	0	0	2719	233	9	0	42	0	CBX3	7	26245999	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	12274709	26245999	132892664	651	105884											
HOXA7	3204	broad.mit.edu	37	chr7	27194723	27194723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctcggtgaggcagagCgcgtgggcgatttcaatgcg	18	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:27194723C>T	uc003sys.2	-	2	630	c.498G>A	c.(496-498)GCG>GCA	p.A166A	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	166	Homeobox.				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				0						TGAGGCAGAGCGCGTGGGCGA	0.617													T	27194723	C	T	27194723	2	4	193	1	0	0	0	0	0	0	0	1	7297	755	27	1		1	HOXA7	7	27194723	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	948724	27194723	131943940	652	105885											
ZNRF2	223082	broad.mit.edu	37	chr7	30363271	30363271	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggatttaagtgcccTgtatgctcaaaatttgtatc	7	6	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:30363271T>G	uc003tat.2	+	2	1534	c.483T>G	c.(481-483)CCT>CCG	p.P161P		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	161						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0						TTAAGTGCCCTGTATGCTCAA	0.318													G	30363271	T	G	30363271	2	3	193	1	0	0	0	0	0	0	0	1	18209	1567	55	5		5	ZNRF2	7	30363271	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3168548	30363271	128775392	653	105886											
CRHR2	1395	broad.mit.edu	37	chr7	30721549	30721549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggtcgtgttgtacttgaCgccgttgaagtactcggggc	15	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:30721549C>T	uc003tbn.2	-	2	455	c.211G>A	c.(211-213)GTC>ATC	p.V71I	CRHR2_uc010kvw.1_Missense_Mutation_p.V71I|CRHR2_uc010kvx.1_Missense_Mutation_p.V71I|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Missense_Mutation_p.V57I|CRHR2_uc003tbp.2_Missense_Mutation_p.V98I|CRHR2_uc010kvz.1_RNA|CRHR2_uc003tbq.1_RNA	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	71	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						TTGTACTTGACGCCGTTGAAG	0.647													T	30721549	C	T	30721549	3	4	193	1	0	0	0	0	1	0	0	0	3872	536	19	1	1068	1	CRHR2	7	30721549	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	358278	30721549	128417114	654	105887											
KBTBD2	25948	broad.mit.edu	37	chr7	32909149	32909149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgctgccgcagagaccaCcggtcaagttccaggtcata	10	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:32909149C>T	uc003tdb.2	-	4	2339	c.1680G>A	c.(1678-1680)CGG>CGA	p.R560R	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	560	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			GCAGAGACCACCGGTCAAGTT	0.463													T	32909149	C	T	32909149	2	4	193	1	0	0	0	0	0	0	0	1	7993	494	18	4		4	KBTBD2	7	32909149	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2187600	32909149	126229514	655	105888											
RP9	6100	broad.mit.edu	37	chr7	33139022	33139022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctggtacatctggtatGcaatcttctggcttagtctc	9	10	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:33139022G>A	uc003tdm.2	-	3	228	c.210C>T	c.(208-210)TGC>TGT	p.C70C		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	70	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			CATCTGGTATGCAATCTTCTG	0.488													A	33139022	G	A	33139022	2	1	193	1	0	0	0	0	0	0	0	1	13535	1311	46	2		2	RP9	7	33139022	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	229873	33139022	125999641	656	105889											
HERPUD2	64224	broad.mit.edu	37	chr7	35673349	35673349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattagtgaagtaaagaagGtggtgatgaaagaccaagct	13	3	0	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:35673349G>A	uc003tet.2	-	8	1977	c.1172C>T	c.(1171-1173)ACC>ATC	p.T391I	HERPUD2_uc003tes.3_Missense_Mutation_p.T391I	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	391					response to unfolded protein	integral to membrane				ovary(3)	3						AGTAAAGAAGGTGGTGATGAA	0.483													A	35673349	G	A	35673349	3	1	193	1	0	0	0	0	1	0	0	0	7064	1261	44	4	52	4	HERPUD2	7	35673349	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2534327	35673349	123465314	657	105890											
STARD3NL	83930	broad.mit.edu	37	chr7	38268436	38268436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaacaggacagtgagaAaccacttttagaactatgag	9	6	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:38268436A>G	uc003tfr.2	+	8	834	c.686A>G	c.(685-687)AAA>AGA	p.K229R	STARD3NL_uc003tfs.2_Missense_Mutation_p.K229R|STARD3NL_uc003tft.2_Missense_Mutation_p.K211R	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	229	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						GACAGTGAGAAACCACTTTTA	0.333													G	38268436	A	G	38268436	3	3	193	1	0	0	0	0	1	0	0	0	15257	14	1	3	712	3	STARD3NL	7	38268436	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2595087	38268436	120870227	658	105891											
GLI3	2737	broad.mit.edu	37	chr7	42004864	42004864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccggcaccacaggcaccGtcgagtgcaccaggggccac	12	17	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:42004864G>A	uc011kbh.1	-	15	3898	c.3807C>T	c.(3805-3807)GAC>GAT	p.D1269D	GLI3_uc011kbg.1_Silent_p.D1210D	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1269					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CACAGGCACCGTCGAGTGCAC	0.617									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42004864	G	A	42004864	2	1	193	1	0	0	0	0	0	0	0	1	6439	1136	40	1		1	GLI3	7	42004864	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3736428	42004864	117133799	659	105892											
HECW1	23072	broad.mit.edu	37	chr7	43447289	43447289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggacaggagaggagatccAagatcataggcaacaccgtg	13	8	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:43447289A>G	uc003tid.1	+	8	1365	c.760A>G	c.(760-762)AAG>GAG	p.K254E	HECW1_uc011kbi.1_Missense_Mutation_p.K254E|HECW1_uc003tie.1_Missense_Mutation_p.K286E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	254	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GAGGAGATCCAAGATCATAGG	0.522													G	43447289	A	G	43447289	3	3	193	1	0	0	0	0	1	0	0	0	7042	131	5	3	782	3	HECW1	7	43447289	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1442425	43447289	115691374	660	105893											
GRB10	2887	broad.mit.edu	37	chr7	50771608	50771608	+	Splice_Site	DEL	A	A	-													tgtctgctccaccttgtcctAaaaaaacaggaccgcagcag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			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)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome				-	50771608	A	-	50771608	8	5	193	1	0	1	0	1	0	0	1	0	6756	377	13	0		0	GRB10	7	50771608	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	7324319	50771608	108367055	661	105894											
EGFR	1956	broad.mit.edu	37	chr7	55229284	55229284	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttgccggaatgtcagcCgaggcagggaatgcgtggac	15	10	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:55229284C>T	uc003tqk.2	+	13	1837	c.1591C>T	c.(1591-1593)CGA>TGA	p.R531*	EGFR_uc003tqi.2_Nonsense_Mutation_p.R531*|EGFR_uc003tqj.2_Nonsense_Mutation_p.R531*|EGFR_uc010kzg.1_Nonsense_Mutation_p.R486*|EGFR_uc011kco.1_Nonsense_Mutation_p.R478*|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	531	Approximate.|Extracellular (Potential).				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			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	GAATGTCAGCCGAGGCAGGGA	0.592		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55229284	C	T	55229284	4	4	193	1	0	0	0	0	0	1	0	0	4967	644	23	1	1652	1	EGFR	7	55229284	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4457676	55229284	103909379	662	105895											
CRCP	27297	broad.mit.edu	37	chr7	65595732	65595732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtatctcctcctaggTatttcagttactaactgatc	5	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:65595732T>C	uc003tus.2	+	3	192	c.47T>C	c.(46-48)GTA>GCA	p.V16A	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Intron|CRCP_uc003tut.2_Intron|CRCP_uc003tuu.2_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	16					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0						TCCTCCTAGGTATTTCAGTTA	0.348													C	65595732	T	C	65595732	3	2	193	1	0	0	0	0	1	0	0	0	3852	1652	57	3	147	3	CRCP	7	65595732	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	10366448	65595732	93542931	663	105896											
AUTS2	26053	broad.mit.edu	37	chr7	69064844	69064844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtcctccgccccgtccCggcccagacccccgcggagg	11	24	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:69064844C>T	uc003tvw.3	+	1	948	c.205C>T	c.(205-207)CGG>TGG	p.R69W	AUTS2_uc003tvv.3_Missense_Mutation_p.R69W|AUTS2_uc003tvx.3_Missense_Mutation_p.R69W	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	69										ovary(2)|central_nervous_system(1)	3		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)		CGCCCCGTCCCGGCCCAGACC	0.517													T	69064844	C	T	69064844	3	4	193	1	0	0	0	0	1	0	0	0	1225	643	23	1	207	1	AUTS2	7	69064844	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3469112	69064844	90073819	664	105897											
AUTS2	26053	broad.mit.edu	37	chr7	70236607	70236607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactggcccttttggttcaCtacaaggagcatttcagccg	9	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:70236607C>A	uc003tvw.3	+	11	2550	c.1807C>A	c.(1807-1809)CTA>ATA	p.L603I	AUTS2_uc003tvx.3_Missense_Mutation_p.L603I|AUTS2_uc011keg.1_Missense_Mutation_p.L55I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	603										ovary(2)|central_nervous_system(1)	3		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)		TTTTGGTTCACTACAAGGAGC	0.557													A	70236607	C	A	70236607	3	1	193	1	0	0	0	0	1	0	0	0	1225	564	20	5	1994	5	AUTS2	7	70236607	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1171763	70236607	88902056	665	105898											
WBSCR17	64409	broad.mit.edu	37	chr7	70597946	70597946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtggccaacctcagcgCgcacagcgccagccccatcc	11	19	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:70597946C>T	uc003tvy.2	+	1	158	c.158C>T	c.(157-159)GCG>GTG	p.A53V		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	53	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AACCTCAGCGCGCACAGCGCC	0.697													T	70597946	C	T	70597946	3	4	193	1	0	0	0	0	1	0	0	0	17261	768	27	1	160	1	WBSCR17	7	70597946	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	361339	70597946	88540717	666	105899											
WBSCR28	135886	broad.mit.edu	37	chr7	73279593	73279593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcctggccttgctcAgtgcctgggagcagctgggc	17	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:73279593A>G	uc003tzk.2	+	2	379	c.343A>G	c.(343-345)AGT>GGT	p.S115G	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.S14G	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	115						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				GGCCTTGCTCAGTGCCTGGGA	0.612													G	73279593	A	G	73279593	3	3	193	1	0	0	0	0	1	0	0	0	17264	188	7	3	349	3	WBSCR28	7	73279593	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2681647	73279593	85859070	667	105900											
HGF	3082	broad.mit.edu	37	chr7	81372788	81372788	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagcccttgtcgggatatCtgcaaaccacaccaagaaaa	7	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:81372788C>T	uc003uhl.2	-	7	912	c.747_splice	c.e7-1	p.R249_splice	HGF_uc003uhm.2_Splice_Site_p.R244_splice|HGF_uc003uhn.1_Splice_Site_p.R249_splice|HGF_uc003uho.1_Splice_Site_p.R244_splice	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1						epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						GTCGGGATATCTGCAAACCAC	0.502													T	81372788	C	T	81372788	5	4	193	1	0	0	0	0	0	0	1	0	7085	927	32	4	1500	4	HGF	7	81372788	Splice_Site	SNP	C	TCGA-CG-5726-01A-11D-1600-08	8093195	81372788	77765875	668	105901											
PCLO	27445	broad.mit.edu	37	chr7	82785096	82785096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgattctccccttactatGtctgcctgtttagtctgagg	8	11	3	2	rs61744360	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:82785096G>A	uc003uhx.2	-	2	1150	c.861C>T	c.(859-861)GAC>GAT	p.D287D	PCLO_uc003uhv.2_Silent_p.D287D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	287	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCCTTACTATGTCTGCCTGTT	0.512													A	82785096	G	A	82785096	2	1	193	1	0	0	0	0	0	0	0	1	11583	1368	48	4		4	PCLO	7	82785096	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1412308	82785096	76353567	669	105902											
MGC26647	219557	broad.mit.edu	37	chr7	88423782	88423782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgactgtgtcacatcgtCgagatacataactggaactt	9	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:88423782C>T	uc003ujv.2	-	2	657	c.475G>A	c.(475-477)GAC>AAC	p.D159N	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	159											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)			GTCACATCGTCGAGATACATA	0.368													T	88423782	C	T	88423782	3	4	193	1	0	0	0	0	1	0	0	0	9550	884	31	1	290	1	MGC26647	7	88423782	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5638686	88423782	70714881	670	105903											
MTERF	7978	broad.mit.edu	37	chr7	91502949	91502949	+	Frame_Shift_Del	DEL	T	T	-													tttcaatttagcttcatatcTttttttactccaagatagaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:91502948_91502948CT>C	uc003ulc.1	-	2	1236	c.1160_1160AG>G	c.(1159-1161)agafs	p.R387fs	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Frame_Shift_Del_p.R367fs|MTERF_uc010leu.1_Frame_Shift_Del_p.R367fs	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	387	Interaction with DNA.				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AGCTTCATATCTTTTTTTACT	0.318													-	91502949	T	-	91502949	7	5	193	1	0	1	0	1	0	0	0	0	9918	1617	56	0	44	0	MTERF	7	91502949	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	3079167	91502949	67635714	671	105904											
AKAP9	10142	broad.mit.edu	37	chr7	91630782	91630782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactcaaggaagaactaggActaattttagaagaaaagtg	9	4	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:91630782A>G	uc003ulg.2	+	8	1776	c.1551A>G	c.(1549-1551)GGA>GGG	p.G517G	AKAP9_uc003ule.2_Silent_p.G529G|AKAP9_uc003ulf.2_Silent_p.G517G|AKAP9_uc003uli.2_Silent_p.G142G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	529	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			AAGAACTAGGACTAATTTTAG	0.343			T	BRAF	papillary thyroid								G	91630782	A	G	91630782	2	3	193	1	0	0	0	0	0	0	0	1	459	262	10	3		3	AKAP9	7	91630782	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	127833	91630782	67507881	672	105905											
PEX1	5189	broad.mit.edu	37	chr7	92134057	92134057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttaccatgagcaagcCgctggctctgcaccgcatca	9	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:92134057C>T	uc003uly.2	-	12	2156	c.2060G>A	c.(2059-2061)CGG>CAG	p.R687Q	PEX1_uc011khr.1_Missense_Mutation_p.R479Q|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Missense_Mutation_p.R365Q|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	687			Missing (in NALD).		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			ovary(1)|central_nervous_system(1)	2	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)			ATGAGCAAGCCGCTGGCTCTG	0.483													T	92134057	C	T	92134057	3	4	193	1	0	0	0	0	1	0	0	0	11735	652	23	1	1843	1	PEX1	7	92134057	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	503275	92134057	67004606	673	105906											
SAMD9L	219285	broad.mit.edu	37	chr7	92762390	92762390	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attagaagtgtagaataagtTcccatcttgtcttctaagct	7	7	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:92762390T>A	uc003umh.1	-	5	4111	c.2895A>T	c.(2893-2895)GGA>GGT	p.G965G	SAMD9L_uc003umj.1_Silent_p.G965G|SAMD9L_uc003umi.1_Silent_p.G965G|SAMD9L_uc010lfb.1_Silent_p.G965G|SAMD9L_uc003umk.1_Silent_p.G965G|SAMD9L_uc010lfc.1_Silent_p.G965G|SAMD9L_uc010lfd.1_Silent_p.G965G|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	965										ovary(4)	4	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)			TAGAATAAGTTCCCATCTTGT	0.383													A	92762390	T	A	92762390	2	1	193	1	0	0	0	0	0	0	0	1	13827	1770	62	5		5	SAMD9L	7	92762390	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	628333	92762390	66376273	674	105907											
COL1A2	1278	broad.mit.edu	37	chr7	94040372	94040372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttttgaatagggccCtcctggtagtcgtggtgcaa	11	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:94040372C>A	uc003ung.1	+	23	1727	c.1256C>A	c.(1255-1257)CCT>CAT	p.P419H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	419					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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAATAGGGCCCTCCTGGTAGT	0.522										HNSCC(75;0.22)			A	94040372	C	A	94040372	3	1	193	1	0	0	0	0	1	0	0	0	3678	681	24	5	1346	5	COL1A2	7	94040372	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1277982	94040372	65098291	675	105908											
CYP3A7	1551	broad.mit.edu	37	chr7	99313472	99313472	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggattgttgagagagtcGatgctcactccaaatgatgt	12	6	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:99313472G>A	uc003uru.2	-	7	684	c.579C>T	c.(577-579)ATC>ATT	p.I193I	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	193					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGAGAGAGTCGATGCTCACTC	0.413													A	99313472	G	A	99313472	2	1	193	1	0	0	0	0	0	0	0	1	4181	1048	37	1		1	CYP3A7	7	99313472	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5273100	99313472	59825191	676	105909											
TRIP6	7205	broad.mit.edu	37	chr7	100468329	100468329	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggccagcatttctacgcCgtggagaggagggcatattg	15	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100468329C>A	uc003uww.2	+	6	1133	c.963C>A	c.(961-963)GCC>GCA	p.A321A	TRIP6_uc010lhk.1_RNA	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	321					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			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATTTCTACGCCGTGGAGAGGA	0.627													A	100468329	C	A	100468329	2	1	193	1	0	0	0	0	0	0	0	1	16556	639	23	5		5	TRIP6	7	100468329	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1154857	100468329	58670334	677	105910											
SRRT	51593	broad.mit.edu	37	chr7	100479844	100479844	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaggatttcttcctggCgcacaaagatgaggagtggt	14	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100479844C>G	uc003uwy.2	+	6	837	c.569C>G	c.(568-570)GCG>GGG	p.A190G	SRRT_uc010lhl.1_Missense_Mutation_p.A190G|SRRT_uc003uxa.2_Missense_Mutation_p.A190G|SRRT_uc003uwz.2_Missense_Mutation_p.A190G	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	190					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TTCTTCCTGGCGCACAAAGAT	0.597													G	100479844	C	G	100479844	3	3	193	1	0	0	0	0	1	0	0	0	15171	768	27	5	583	5	SRRT	7	100479844	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	11515	100479844	58658819	678	105911											
ACHE	43	broad.mit.edu	37	chr7	100488859	100488859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgcgcagcccccgccGcacctccagcggccgcaggt	14	20	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100488859G>A	uc003uxd.2	-	3	1810	c.1654C>T	c.(1654-1656)CGG>TGG	p.R552W	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.R552W|ACHE_uc003uxf.2_Missense_Mutation_p.R552W|ACHE_uc003uxg.2_Missense_Mutation_p.R552W|ACHE_uc003uxh.2_Missense_Mutation_p.R464W|ACHE_uc003uxi.2_Missense_Mutation_p.R552W	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	552					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AGCCCCCGCCGCACCTCCAGC	0.706													A	100488859	G	A	100488859	3	1	193	1	0	0	0	0	1	0	0	0	141	1086	38	1	333	1	ACHE	7	100488859	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	9015	100488859	58649804	679	105912											
AP1S1	1174	broad.mit.edu	37	chr7	100800008	100800008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcgaaagcccaagaTgtgcagcttcctggagtgga	13	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:100800008T>C	uc003uxv.3	+	2	247	c.137T>C	c.(136-138)ATG>ACG	p.M46T		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	46					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				0	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGCCCAAGATGTGCAGCTTC	0.527													C	100800008	T	C	100800008	3	2	193	1	0	0	0	0	1	0	0	0	736	1464	51	3	143	3	AP1S1	7	100800008	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	311149	100800008	58338655	680	105913											
DNAJC2	27000	broad.mit.edu	37	chr7	102962984	102962984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagcttcttgctccttccGtttagcttctgcttttgctt	6	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:102962984G>A	uc003vbo.2	-	9	1158	c.907C>T	c.(907-909)CGG>TGG	p.R303W	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Translation_Start_Site|DNAJC2_uc010lix.2_Missense_Mutation_p.R303W|DNAJC2_uc003vbp.2_Translation_Start_Site	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	303					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						tgctccttccgtttagcttct	0.139													A	102962984	G	A	102962984	3	1	193	1	0	0	0	0	1	0	0	0	4639	1144	40	1	994	1	DNAJC2	7	102962984	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2162976	102962984	56175679	681	105914											
RELN	5649	broad.mit.edu	37	chr7	103124101	103124102	+	Splice_Site	INS	-	-	G													tccatttgggccacttacagINSggggacattgtaagacactc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:103124100_103124101A>AG	uc022ajr.1	-	62	10341	c.10181_splice	c.e62+1	p.L3394_splice	RELN_uc022ajq.1_Splice_Site_p.L3394_splice|RELN_uc010liz.3_Splice_Site_p.L3394_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3394					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)		GGCCACTTACAGGGGGACATTG	0.49													G	103124102	-	G	103124101	8	5	193	1	0	1	1	0	0	0	1	0	13220	1014	35	0	218	0	RELN	7	103124101	Splice_Site	INS	-	TCGA-CG-5726-01A-11D-1600-08	161117	103124101	56014562	682	105915											
SRPK2	6733	broad.mit.edu	37	chr7	104783602	104783602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttcacctctgggcagTattcgccatcctggtcattg	9	11	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:104783602T>C	uc003vct.2	-	9	1143	c.956A>G	c.(955-957)TAC>TGC	p.Y319C	SRPK2_uc003vcu.2_Missense_Mutation_p.Y319C|SRPK2_uc003vcv.2_Missense_Mutation_p.Y330C|SRPK2_uc003vcw.1_Missense_Mutation_p.Y319C	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	319	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTCTGGGCAGTATTCGCCATC	0.502													C	104783602	T	C	104783602	3	2	193	1	0	0	0	0	1	0	0	0	15159	1638	57	3	1138	3	SRPK2	7	104783602	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1659501	104783602	54355061	683	105916											
RINT1	60561	broad.mit.edu	37	chr7	105182902	105182902	+	Frame_Shift_Del	DEL	A	A	-													aaaagaattcgaagtgccttAaaaaatgcagaagaatcaaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:105182901_105182901TA>T	uc003vda.1	+	3	551	c.320_320TA>T	c.(319-321)ttafs	p.L107fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	107					G2/M transition DNA damage checkpoint|cell cycle|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						CGAAGTGCCTTAAAAAATGCA	0.353													-	105182902	A	-	105182902	7	5	193	1	0	1	0	1	0	0	0	0	13376	359	13	0	335	0	RINT1	7	105182902	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	399300	105182902	53955761	684	105917											
CDHR3	222256	broad.mit.edu	37	chr7	105656435	105656435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctcatttttgataggCcatcctatgtatttgatgtg	7	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:105656435C>T	uc003vdl.3	+	11	1498	c.1390C>T	c.(1390-1392)CCA>TCA	p.P464S	CDHR3_uc003vdk.2_Missense_Mutation_p.P112S|CDHR3_uc003vdm.3_Missense_Mutation_p.P451S|CDHR3_uc011klt.1_Missense_Mutation_p.P376S|CDHR3_uc003vdn.2_Missense_Mutation_p.P181S	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	464	Cadherin 4.|Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TTTTGATAGGCCATCCTATGT	0.388													T	105656435	C	T	105656435	3	4	193	1	0	0	0	0	1	0	0	0	3120	739	26	2	1432	2	CDHR3	7	105656435	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	473533	105656435	53482228	685	105918											
NAMPT	10135	broad.mit.edu	37	chr7	105908966	105908966	+	Frame_Shift_Del	DEL	T	T	-													ggatctttcgttccataataTtttttaattagagcaagtcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:105908966delT	uc003vdq.2	-	6	995	c.687delA	c.(685-687)AAAfs	p.K229fs	NAMPT_uc003vdr.1_Frame_Shift_Del_p.K229fs|NAMPT_uc011klu.1_Frame_Shift_Del_p.K142fs	NM_005746	NP_005737	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	229					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			large_intestine(1)	1						TTCCATAATATTTTTTAATTA	0.358													-	105908966	T	-	105908966	7	5	193	1	0	1	0	1	0	0	0	0	10149	1490	52	0	812	0	NAMPT	7	105908966	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	252531	105908966	53229697	686	105919											
DOCK4	9732	broad.mit.edu	37	chr7	111540481	111540481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccccggaatttatccaCaggaatgggaagtttcagca	10	10	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:111540481C>T	uc003vfx.2	-	15	1698	c.1429G>A	c.(1429-1431)GTG>ATG	p.V477M	DOCK4_uc003vfy.2_Missense_Mutation_p.V477M|DOCK4_uc003vga.1_Missense_Mutation_p.V82M	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	477	DHR-1.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				AATTTATCCACAGGAATGGGA	0.512													T	111540481	C	T	111540481	3	4	193	1	0	0	0	0	1	0	0	0	4689	478	17	4	4623	4	DOCK4	7	111540481	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5631515	111540481	47598182	687	105920											
TMEM168	64418	broad.mit.edu	37	chr7	112423986	112423986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaattccaaaaatggAaaagccaggtattacaaaat	6	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:112423986A>G	uc003vgn.2	-	2	1287	c.895T>C	c.(895-897)TCC>CCC	p.S299P	TMEM168_uc010lju.2_Missense_Mutation_p.S299P|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	299	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CCAAAAATGGAAAAGCCAGGT	0.318													G	112423986	A	G	112423986	3	3	193	1	0	0	0	0	1	0	0	0	16080	246	9	3	1214	3	TMEM168	7	112423986	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	883505	112423986	46714677	688	105921											
CFTR	1080	broad.mit.edu	37	chr7	117120192	117120192	+	Frame_Shift_Del	DEL	T	T	-													ggccagcgttgtctccaaacTttttttcaggtgagaaggtg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:117120191_117120191CT>C	uc003vjd.3	+	0	175	c.43_43CT>C	c.(43-45)cttfs	p.L15fs	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	15					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|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme 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)	TGTCTCCAAACTTTTTTTCAG	0.567									Cystic Fibrosis				-	117120192	T	-	117120192	7	5	193	1	0	1	0	1	0	0	0	0	3294	1609	56	0	46	0	CFTR	7	117120192	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	4696206	117120192	42018471	689	105922											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432425	117432425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagagaggcttggtttGctgtcacttccccttttcag	12	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:117432425G>A	uc003vjf.2	-	4	917	c.825C>T	c.(823-825)AGC>AGT	p.S275S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	275	Potential.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTTGGTTTGCTGTCACTTC	0.478													A	117432425	G	A	117432425	2	1	193	1	0	0	0	0	0	0	0	1	4045	1310	46	2		2	CTTNBP2	7	117432425	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	312233	117432425	41706238	690	105923											
C7orf58	79974	broad.mit.edu	37	chr7	120629903	120629903	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcttccttctctctggTaatgcccaggaaaccagaaa	8	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:120629903T>C	uc003vjq.3	+	2	675	c.228T>C	c.(226-228)GGT>GGC	p.G76G	C7orf58_uc003vjr.1_Silent_p.G76G|C7orf58_uc003vjs.3_Silent_p.G76G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	76						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TTCTCTCTGGTAATGCCCAGG	0.478													C	120629903	T	C	120629903	2	2	193	1	0	0	0	0	0	0	0	1	2405	1625	57	3		3	C7orf58	7	120629903	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3197478	120629903	38508760	691	105924											
C7orf58	79974	broad.mit.edu	37	chr7	120911388	120911388	+	Frame_Shift_Del	DEL	A	A	-													ttgattattctggatactgcAaaaaaacatggctatgaagt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:120911387_120911387CA>C	uc003vjq.4	+	21	3218	c.2771_2771CA>C	c.(2770-2772)gcafs	p.A924fs		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	924						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTGGATACTGCAAAAAAACAT	0.353													-	120911388	A	-	120911388	7	5	193	1	0	1	0	1	0	0	0	0	2405	117	5	0	2900	0	C7orf58	7	120911388	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	281485	120911388	38227275	692	105925											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651782	121651782	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacgctggaatttggtagTgaatctggtgttctttataa	12	4	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:121651782T>C	uc003vjy.2	+	12	3077	c.2682T>C	c.(2680-2682)AGT>AGC	p.S894S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	894	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AATTTGGTAGTGAATCTGGTG	0.473													C	121651782	T	C	121651782	2	2	193	1	0	0	0	0	0	0	0	1	12814	1693	59	3		3	PTPRZ1	7	121651782	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	740394	121651782	37486881	693	105926											
CADPS2	93664	broad.mit.edu	37	chr7	122033276	122033276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatataaagaaggcatccaCgaagcagtagaaatgttagg	10	6	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:122033276C>T	uc010lkp.2	-	21	3145	c.2982G>A	c.(2980-2982)TCG>TCA	p.S994S	CADPS2_uc011knx.1_Silent_p.S369S|CADPS2_uc003vkg.3_Intron|CADPS2_uc010lkq.2_Intron	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	994	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						AAGGCATCCACGAAGCAGTAG	0.458													T	122033276	C	T	122033276	2	4	193	1	0	0	0	0	0	0	0	1	2571	523	19	1		1	CADPS2	7	122033276	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	381494	122033276	37105387	694	105927											
SLC13A1	6561	broad.mit.edu	37	chr7	122808565	122808565	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtattccttaccctggaaCtggttttgttttctctttcc	6	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:122808565C>G	uc003vkm.2	-	5	629	c.604G>C	c.(604-606)GTT>CTT	p.V202L	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	202						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TACCCTGGAACTGGTTTTGTT	0.254													G	122808565	C	G	122808565	3	3	193	1	0	0	0	0	1	0	0	0	14391	565	20	5	1227	5	SLC13A1	7	122808565	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	775289	122808565	36330098	695	105928											
IQUB	154865	broad.mit.edu	37	chr7	123152119	123152119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgcttttcatgatgttgCggagtatatgaaacttgtct	9	5	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:123152119C>T	uc003vkn.2	-	2	853	c.276G>A	c.(274-276)CCG>CCA	p.P92P	IQUB_uc003vko.2_Silent_p.P92P|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Silent_p.P92P|IQUB_uc003vkq.2_Silent_p.P92P	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92										ovary(3)|large_intestine(1)	4						CATGATGTTGCGGAGTATATG	0.388													T	123152119	C	T	123152119	2	4	193	1	0	0	0	0	0	0	0	1	7820	755	27	1		1	IQUB	7	123152119	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	343554	123152119	35986544	696	105929											
GRM8	2918	broad.mit.edu	37	chr7	126746712	126746712	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcgagagaaaaagtcatAcctggtgttatcacttagct	8	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:126746712A>C	uc003vlr.2	-	2	876	c.565T>G	c.(565-567)TAT>GAT	p.Y189D	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Y189D|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	189	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAAAAGTCATACCTGGTGTTA	0.478										HNSCC(24;0.065)			C	126746712	A	C	126746712	3	2	193	1	0	0	0	0	1	0	0	0	6803	391	14	5	2247	5	GRM8	7	126746712	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3594593	126746712	32391951	697	105930											
ZNF800	168850	broad.mit.edu	37	chr7	127014002	127014002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccacctgcagccgacGgactagttgatttagggctt	13	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:127014002G>A	uc003vlx.1	-	5	1651	c.1388C>T	c.(1387-1389)CCG>CTG	p.P463L	ZNF800_uc003vlw.1_Missense_Mutation_p.P366L|ZNF800_uc003vly.1_Missense_Mutation_p.P463L|ZNF800_uc010lla.2_Missense_Mutation_p.P463L	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCAGCCGACGGACTAGTTGA	0.378													A	127014002	G	A	127014002	3	1	193	1	0	0	0	0	1	0	0	0	18166	1116	39	1	614	1	ZNF800	7	127014002	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	267290	127014002	32124661	698	105931											
FLNC	2318	broad.mit.edu	37	chr7	128496836	128496836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcccccacgagaatggCgtccactccatcgatgtcaa	7	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:128496836C>T	uc003vnz.3	+	45	7631	c.7422C>T	c.(7420-7422)GGC>GGT	p.G2474G	FLNC_uc003voa.3_Silent_p.G2441G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2474	Filamin 22.|Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						ACGAGAATGGCGTCCACTCCA	0.612													T	128496836	C	T	128496836	2	4	193	1	0	0	0	0	0	0	0	1	5935	755	27	1		1	FLNC	7	128496836	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1482834	128496836	30641827	699	105932											
LRGUK	136332	broad.mit.edu	37	chr7	133948672	133948672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtcccagtcatcagtcGcccaggttccaacgtcaaac	8	16	3	0	rs138421011		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:133948672G>A	uc003vrm.1	+	20	2439	c.2423G>A	c.(2422-2424)CGC>CAC	p.R808H		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	808							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GTCATCAGTCGCCCAGGTTCC	0.468													A	133948672	G	A	133948672	3	1	193	1	0	0	0	0	1	0	0	0	8943	1087	38	1	2501	1	LRGUK	7	133948672	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5451836	133948672	25189991	700	105933											
TRIM24	8805	broad.mit.edu	37	chr7	138145487	138145487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaccagaacatccagaGccgggcgcccaagctgctgc	12	16	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138145487G>A	uc003vuc.2	+	1	409	c.194G>A	c.(193-195)AGC>AAC	p.S65N	TRIM24_uc003vub.2_Missense_Mutation_p.S65N	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	65	RING-type.				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			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						AACATCCAGAGCCGGGCGCCC	0.726													A	138145487	G	A	138145487	3	1	193	1	0	0	0	0	1	0	0	0	16495	971	34	2	196	2	TRIM24	7	138145487	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4196815	138145487	20993176	701	105934											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394473	138394473	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaataataaaaaccccgacGattcctccccagcctcgcgt	5	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138394473G>A	uc003vuf.2	-	20	2563	c.2325C>T	c.(2323-2325)ATC>ATT	p.I775I	ATP6V0A4_uc003vug.2_Silent_p.I775I|ATP6V0A4_uc003vuh.2_Silent_p.I775I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	775	Helical; (Potential).				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			pancreas(1)	1						AAACCCCGACGATTCCTCCCC	0.522													A	138394473	G	A	138394473	2	1	193	1	0	0	0	0	0	0	0	1	1170	1048	37	1		1	ATP6V0A4	7	138394473	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	248986	138394473	20744190	702	105935											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764890	138764890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggacctctcagcagacGctgaagcagacgcaagaaat	11	11	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138764890G>A	uc003vun.2	-	4	1185	c.797C>T	c.(796-798)GCG>GTG	p.A266V	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.A266V	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	266					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						CTCAGCAGACGCTGAAGCAGA	0.532													A	138764890	G	A	138764890	3	1	193	1	0	0	0	0	1	0	0	0	17572	1087	38	1	1955	1	ZC3HAV1	7	138764890	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	370417	138764890	20373773	703	105936											
TTC26	79989	broad.mit.edu	37	chr7	138872157	138872157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctcttattcagatgggCcagttttactattctgccaa	7	10	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:138872157C>T	uc003vus.2	+	17	1539	c.1425C>T	c.(1423-1425)GGC>GGT	p.G475G	TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Silent_p.G444G|TTC26_uc011kqp.1_Silent_p.G370G|TTC26_uc003vut.2_Silent_p.G335G|TTC26_uc011kqq.1_Silent_p.G344G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	475	TPR 4.						binding			ovary(1)	1						TTCAGATGGGCCAGTTTTACT	0.428													T	138872157	C	T	138872157	2	4	193	1	0	0	0	0	0	0	0	1	16691	726	26	2		2	TTC26	7	138872157	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	107267	138872157	20266506	704	105937											
LUC7L2	51631	broad.mit.edu	37	chr7	139107068	139107068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagctctgaagagcgCgaagcaggggagatctaact	16	7	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:139107068C>T	uc003vux.2	+	10	1535	c.1161C>T	c.(1159-1161)CGC>CGT	p.R387R	LUC7L2_uc011kqs.1_Silent_p.R384R|LUC7L2_uc011kqt.1_Silent_p.R453R|LUC7L2_uc003vuy.2_Silent_p.R386R|LUC7L2_uc003vva.2_Silent_p.R334R	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	387	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					CTGAAGAGCGCGAAGCAGGGG	0.473													T	139107068	C	T	139107068	2	4	193	1	0	0	0	0	0	0	0	1	9083	755	27	1		1	LUC7L2	7	139107068	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	234911	139107068	20031595	705	105938											
JHDM1D	80853	broad.mit.edu	37	chr7	139790972	139790972	+	Frame_Shift_Del	DEL	T	T	-													tgtttggctgttgccattccTttttttggacgtttacctat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:139790971_139790971CT>C	uc003vvm.3	-	19	2753	c.2749_2749AG>G	c.(2749-2751)ggafs	p.G917fs	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	917					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTGCCATTCCTTTTTTTGGA	0.433													-	139790972	T	-	139790972	7	5	193	1	0	1	0	1	0	0	0	0	7948	1606	56	0	81	0	JHDM1D	7	139790972	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	683904	139790972	19347691	706	105939											
BRAF	673	broad.mit.edu	37	chr7	140500184	140500184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagagtccgaggcgggtgCggaaggggatgatccagatg	18	6	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:140500184C>T	uc003vwc.3	-	7	1019	c.958G>A	c.(958-960)GCA>ACA	p.A320T		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	320					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		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGCGGGTGCGGAAGGGGAT	0.493		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				T	140500184	C	T	140500184	3	4	193	1	0	0	0	0	1	0	0	0	1496	768	27	1	1390	1	BRAF	7	140500184	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	709212	140500184	18638479	707	105940											
OR6V1	346517	broad.mit.edu	37	chr7	142749987	142749987	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaatgaacctctcctgCagttgtcatgctctgacact	8	12	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:142749987C>T	uc011ksv.1	+	1	550	c.550C>T	c.(550-552)CAG>TAG	p.Q184*		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					ACCTCTCCTGCAGTTGTCATG	0.517													T	142749987	C	T	142749987	4	4	193	1	0	0	0	0	0	1	0	0	11211	711	25	2	552	2	OR6V1	7	142749987	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2249803	142749987	16388676	708	105941											
EPHA1	2041	broad.mit.edu	37	chr7	143095886	143095886	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccccacagggctggcaggGccccccgtcctgtgctgtgc	13	18	0	0	rs57652656	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:143095886G>C	uc003wcz.2	-	6	1231	c.1144C>G	c.(1144-1146)CCC>GCC	p.P382A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	382	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGCTGGCAGGGCCCCCCGTCC	0.647													C	143095886	G	C	143095886	3	2	193	1	0	0	0	0	1	0	0	0	5165	1203	42	5	1838	5	EPHA1	7	143095886	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	345899	143095886	16042777	709	105942											
OR2A5	393046	broad.mit.edu	37	chr7	143748348	143748348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccttttcaacccgatgcTgaaccccttgatctatagcc	6	15	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:143748348T>G	uc011ktw.1	+	1	854	c.854T>G	c.(853-855)CTG>CGG	p.L285R		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					AACCCGATGCTGAACCCCTTG	0.532													G	143748348	T	G	143748348	3	3	193	1	0	0	0	0	1	0	0	0	10981	1580	55	5	856	5	OR2A5	7	143748348	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	652462	143748348	15390315	710	105943											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997331	146997331	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagatgaagcatcagcagttCgaactaatagtccccttcaa	8	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:146997331C>A	uc003weu.1	+	9	1963	c.1447C>A	c.(1447-1449)CGA>AGA	p.R483R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	483	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			ATCAGCAGTTCGAACTAATAG	0.423										HNSCC(39;0.1)			A	146997331	C	A	146997331	2	1	193	1	0	0	0	0	0	0	0	1	3647	876	31	5		5	CNTNAP2	7	146997331	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3248983	146997331	12141332	711	105944											
ZNF282	8427	broad.mit.edu	37	chr7	148910865	148910865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatacccatggggaccacGcgactcaatggacggagagc	13	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:148910865G>A	uc003wfm.2	+	7	1244	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H	ZNF282_uc011kun.1_Missense_Mutation_p.R380H|ZNF282_uc003wfn.2_Missense_Mutation_p.R320H|ZNF282_uc003wfo.2_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	380					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TGGGGACCACGCGACTCAATG	0.527													A	148910865	G	A	148910865	3	1	193	1	0	0	0	0	1	0	0	0	17816	1087	38	1	1165	1	ZNF282	7	148910865	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1913534	148910865	10227798	712	105945											
GIMAP7	168537	broad.mit.edu	37	chr7	150217889	150217889	+	Frame_Shift_Del	DEL	T	T	-													gagaaatatatttaaagatgTttttaataggatttggaaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150217888_150217888GT>G	uc003whk.3	+	1	956	c.826_826GT>G	c.(826-828)gttfs	p.V276fs	GIMAP7_uc022apu.1_Frame_Shift_Del_p.V276fs	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	276							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)		ATTTAAAGATGTTTTTAATAG	0.249													-	150217889	T	-	150217889	7	5	193	1	0	1	0	1	0	0	0	0	6384	1725	60	0	829	0	GIMAP7	7	150217889	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1307024	150217889	8920774	713	105946											
GIMAP1	170575	broad.mit.edu	37	chr7	150417708	150417708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtggagcagctgctgGggatggtcgagggcttggtg	20	8	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150417708G>T	uc003whq.2	+	3	703	c.616G>T	c.(616-618)GGG>TGG	p.G206W	GIMAP1_uc003whp.2_Missense_Mutation_p.G214W	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	206	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCTGCTGGGGATGGTCGA	0.692													T	150417708	G	T	150417708	3	4	193	1	0	0	0	0	1	0	0	0	6379	1232	43	5	622	5	GIMAP1	7	150417708	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	199819	150417708	8720955	714	105947											
NOS3	4846	broad.mit.edu	37	chr7	150711125	150711125	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctaccacgaagacattttCgggctcacgctgcgcaccca	9	16	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150711125C>T	uc003wif.2	+	27	3776	c.3480C>T	c.(3478-3480)TTC>TTT	p.F1160F	NOS3_uc011kuy.1_Silent_p.F954F|ATG9B_uc003wig.3_Intron|ATG9B_uc011kvc.1_Intron	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	1160					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			central_nervous_system(5)|large_intestine(2)|skin(1)	8	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)	AAGACATTTTCGGGCTCACGC	0.617													T	150711125	C	T	150711125	2	4	193	1	0	0	0	0	0	0	0	1	10544	883	31	1		1	NOS3	7	150711125	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	293417	150711125	8427538	715	105948											
CHPF2	54480	broad.mit.edu	37	chr7	150932267	150932267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacttccctcggttactcTacttcactgggcagcggggg	11	13	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:150932267T>C	uc003wjr.1	+	2	1910	c.397T>C	c.(397-399)TAC>CAC	p.Y133H	CHPF2_uc003wjq.1_Missense_Mutation_p.Y125H	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	133	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						TCGGTTACTCTACTTCACTGG	0.647													C	150932267	T	C	150932267	3	2	193	1	0	0	0	0	1	0	0	0	3369	1522	53	3	403	3	CHPF2	7	150932267	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	221142	150932267	8206396	716	105949											
CRYGN	155051	broad.mit.edu	37	chr7	151127139	151127139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatcggttccaggctcagaGgtttgcagtcaggaaaggtg	14	8	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:151127139G>T	uc003wke.2	-	4	640	c.544C>A	c.(544-546)CTC>ATC	p.L182I	CRYGN_uc003wkf.2_3'UTR|CRYGN_uc003wkg.2_RNA	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	182											0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCTCAGAGGTTTGCAGTC	0.502													T	151127139	G	T	151127139	3	4	193	1	0	0	0	0	1	0	0	0	3918	1000	35	5	8	5	CRYGN	7	151127139	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	194872	151127139	8011524	717	105950											
MLL3	58508	broad.mit.edu	37	chr7	151921130	151921132	+	In_Frame_Del	DEL	TCT	TCT	-													gtctacattgcagaataagaTcttcttctctatagtttcga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:151921130_151921132delTCT	uc003wla.2	-	20	3510_3512	c.3291_3293delAGA	c.(3289-3294)GAAGAT>GAT	p.E1097del	MLL3_uc003wkz.2_In_Frame_Del_p.E158del	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1097	PHD-type 6.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGAATAAGATCTTCTTCTCTAT	0.36			N		medulloblastoma								-	151921132	TCT	-	151921130	7	5	193	1	0	1	0	1	0	0	0	0	9622	1435	50	0	11602	0	MLL3	7	151921130	In_Frame_Del	DEL	TCT	TCGA-CG-5726-01A-11D-1600-08	793991	151921130	7217533	718	105951											
PAXIP1	22976	broad.mit.edu	37	chr7	154754138	154754138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgtgtttaaccagtgtgCagtaacacatctctttcttt	7	9	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:154754138C>T	uc003wlp.2	-	10	2063	c.2020G>A	c.(2020-2022)GCA>ACA	p.A674T	PAXIP1_uc003wlq.1_Missense_Mutation_p.A640T|PAXIP1_uc011kvs.1_Missense_Mutation_p.A638T	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	674	Interaction with TP53BP1.|BRCT 3.				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				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	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)		AACCAGTGTGCAGTAACACAT	0.413													T	154754138	C	T	154754138	3	4	193	1	0	0	0	0	1	0	0	0	11487	710	25	2	1237	2	PAXIP1	7	154754138	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2833008	154754138	4384525	719	105952											
LMBR1	64327	broad.mit.edu	37	chr7	156554834	156554834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattaaatacttactgttggCttcactagcaactgacccat	5	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:156554834C>A	uc003wmw.3	-	8	893	c.678G>T	c.(676-678)AAG>AAT	p.K226N	LMBR1_uc003wmv.3_Missense_Mutation_p.K74N|LMBR1_uc003wmx.3_Missense_Mutation_p.K74N|LMBR1_uc010lqn.2_Missense_Mutation_p.K226N|LMBR1_uc011kvx.1_Missense_Mutation_p.K205N	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	226	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTACTGTTGGCTTCACTAGCA	0.318													A	156554834	C	A	156554834	3	1	193	1	0	0	0	0	1	0	0	0	8840	796	28	5	834	5	LMBR1	7	156554834	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1800696	156554834	2583829	720	105953											
NOM1	64434	broad.mit.edu	37	chr7	156746803	156746803	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaattctctgcaggttgagTgaacccaacatggcttccat	8	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:156746803T>C	uc003wmy.2	+	3	1134	c.1119T>C	c.(1117-1119)AGT>AGC	p.S373S		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	373	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCAGGTTGAGTGAACCCAACA	0.433													C	156746803	T	C	156746803	2	2	193	1	0	0	0	0	0	0	0	1	10530	1693	59	3		3	NOM1	7	156746803	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	191969	156746803	2391860	721	105954											
UBE3C	9690	broad.mit.edu	37	chr7	157049683	157049683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcactgatgaagaaaagcGcaaactgctgaagtttgtaa	10	6	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:157049683G>A	uc010lqs.2	+	22	3338	c.3026G>A	c.(3025-3027)CGC>CAC	p.R1009H	UBE3C_uc003wni.3_Missense_Mutation_p.R372H	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1009	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		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)		GAAGAAAAGCGCAAACTGCTG	0.423													A	157049683	G	A	157049683	3	1	193	1	0	0	0	0	1	0	0	0	16878	1087	38	1	3112	1	UBE3C	7	157049683	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	302880	157049683	2088980	722	105955											
DNAJB6	10049	broad.mit.edu	37	chr7	157177588	157177588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttgggtcactaggtcAcgggggcctcacttcattct	10	11	6	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr7:157177588A>G	uc003wnk.2	+	7	660	c.506A>G	c.(505-507)CAC>CGC	p.H169R	DNAJB6_uc003wnj.2_Missense_Mutation_p.H169R|DNAJB6_uc003wnl.2_Missense_Mutation_p.H156R|DNAJB6_uc011kvy.1_Missense_Mutation_p.H120R|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.H169R	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	169	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			ovary(2)	2	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)		TCACTAGGTCACGGGGGCCTC	0.383													G	157177588	A	G	157177588	3	3	193	1	0	0	0	0	1	0	0	0	4624	159	6	3	528	3	DNAJB6	7	157177588	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	127905	157177588	1961075	723	105956											
MYOM2	9172	broad.mit.edu	37	chr8	2056577	2056577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactttttcttcgttttagAgctcgagcgtttgatggcat	9	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:2056577A>G	uc003wpx.3	+	24	3137	c.2999A>G	c.(2998-3000)GAG>GGG	p.E1000G	MYOM2_uc011kwi.1_Missense_Mutation_p.E425G	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1000	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		TTCGTTTTAGAGCTCGAGCGT	0.498													G	2056577	A	G	2056577	3	3	193	1	0	0	0	0	1	0	0	0	10092	318	11	3	3089	3	MYOM2	8	2056577	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08		2056577	144307445	724	105957											
CSMD1	64478	broad.mit.edu	37	chr8	2818731	2818731	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggcaggtgttatgagCaggatctgaaatttgtgatt	14	4	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:2818731C>A	uc011kwk.1	-	62	10027	c.9637G>T	c.(9637-9639)GCT>TCT	p.A3213S	CSMD1_uc011kwj.1_Missense_Mutation_p.A2542S|CSMD1_uc010lrg.2_Missense_Mutation_p.A1104S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3213	Extracellular (Potential).					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)		GTGTTATGAGCAGGATCTGAA	0.368													A	2818731	C	A	2818731	3	1	193	1	0	0	0	0	1	0	0	0	3944	710	25	5	1096	5	CSMD1	8	2818731	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	762154	2818731	143545291	725	105958											
CSMD1	64478	broad.mit.edu	37	chr8	2886894	2886894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcccattggcctggcacCgcaggagcctccagccttct	10	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:2886894C>T	uc011kwk.1	-	51	8195	c.7805G>A	c.(7804-7806)CGG>CAG	p.R2602Q	CSMD1_uc011kwj.1_Missense_Mutation_p.R1931Q|CSMD1_uc010lrg.2_Missense_Mutation_p.R670Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2602	Extracellular (Potential).|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)		GGCCTGGCACCGCAGGAGCCT	0.537													T	2886894	C	T	2886894	3	4	193	1	0	0	0	0	1	0	0	0	3944	652	23	1	2972	1	CSMD1	8	2886894	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	68163	2886894	143477128	726	105959											
CSMD1	64478	broad.mit.edu	37	chr8	3855606	3855606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagctgctggtcccgcGtaaggttcctccgcaggctc	14	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:3855606G>A	uc011kwk.1	-	5	1027	c.637C>T	c.(637-639)CGC>TGC	p.R213C		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	213	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGTCCCGCGTAAGGTTCCT	0.567													A	3855606	G	A	3855606	3	1	193	1	0	0	0	0	1	0	0	0	3944	1145	40	1	10134	1	CSMD1	8	3855606	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	968712	3855606	142508416	727	105960											
ANGPT2	285	broad.mit.edu	37	chr8	6420295	6420295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggggctggaggaagagCggcagttgtccatctctggc	17	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:6420295C>T	uc003wqj.3	-	1	490	c.161G>A	c.(160-162)CGC>CAC	p.R54H	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.R54H|ANGPT2_uc010lri.2_Missense_Mutation_p.R54H|ANGPT2_uc003wql.3_Missense_Mutation_p.R54H	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	54					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			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGAGGAAGAGCGGCAGTTGTC	0.552													T	6420295	C	T	6420295	3	4	193	1	0	0	0	0	1	0	0	0	611	768	27	1	1365	1	ANGPT2	8	6420295	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2564689	6420295	139943727	728	105961											
SGK223	157285	broad.mit.edu	37	chr8	8185961	8185961	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgttggtgggcgagtgagcCagctcagacgagggacctga	17	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:8185961C>G	uc003wsh.3	-	4	2331	c.2331G>C	c.(2329-2331)CTG>CTC	p.L777L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	777							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GCGAGTGAGCCAGCTCAGACG	0.572													G	8185961	C	G	8185961	2	3	193	1	0	0	0	0	0	0	0	1	14210	581	21	5		5	SGK223	8	8185961	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1765666	8185961	138178061	729	105962											
SGK223	157285	broad.mit.edu	37	chr8	8234853	8234853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactctcgaggtgggggaCgaaggggctactggcgccgc	17	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:8234853C>T	uc003wsh.3	-	2	1066	c.1066G>A	c.(1066-1068)GTC>ATC	p.V356I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	356							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						AGGTGGGGGACGAAGGGGCTA	0.647													T	8234853	C	T	8234853	3	4	193	1	0	0	0	0	1	0	0	0	14210	536	19	1	3158	1	SGK223	8	8234853	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	48892	8234853	138129169	730	105963											
SOX7	83595	broad.mit.edu	37	chr8	10583646	10583646	+	Frame_Shift_Del	DEL	G	G	-													gccaagggccagggagcccaGggggtggctacagtggagag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:10583646delG	uc003wtf.2	-	2	848	c.769delC	c.(769-771)CTGfs	p.L257fs	SOX7_uc011kwz.1_Frame_Shift_Del_p.L309fs	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	257					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)	1				COAD - Colon adenocarcinoma(149;0.0732)		AGGGAGCCCAGGGGGTGGCTA	0.687													-	10583646	G	-	10583646	7	5	193	1	0	1	0	1	0	0	0	0	14956	991	35	0	401	0	SOX7	8	10583646	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	2348793	10583646	135780376	731	105964											
DEFB135	613209	broad.mit.edu	37	chr8	11842062	11842062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactatacatttgtgctgtgTaaacccaaaatatttaccta	4	8	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:11842062T>C	uc003wuw.1	+	2	197	c.197T>C	c.(196-198)GTA>GCA	p.V66A		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	66					defense response to bacterium	extracellular region					0						TTGTGCTGTGTAAACCCAAAA	0.413													C	11842062	T	C	11842062	3	2	193	1	0	0	0	0	1	0	0	0	4419	1638	57	3	203	3	DEFB135	8	11842062	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1258416	11842062	134521960	732	105965											
DLC1	10395	broad.mit.edu	37	chr8	12950293	12950293	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcaggcagcagcatgaTggcagccttgatggcctgca	13	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:12950293T>A	uc003wwm.2	-	13	4012	c.3568A>T	c.(3568-3570)ATC>TTC	p.I1190F	DLC1_uc003wwk.1_Missense_Mutation_p.I753F|DLC1_uc003wwl.1_Missense_Mutation_p.I787F|DLC1_uc011kxx.1_Missense_Mutation_p.I679F	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1190	Rho-GAP.				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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGCAGCATGATGGCAGCCTTG	0.542													A	12950293	T	A	12950293	3	1	193	1	0	0	0	0	1	0	0	0	4550	1464	51	5	1042	5	DLC1	8	12950293	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1108231	12950293	133413729	733	105966											
DLC1	10395	broad.mit.edu	37	chr8	12957673	12957673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtaccatggggacgtTgatgcggttgccattgaggg	15	8	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:12957673T>C	uc003wwm.2	-	9	2617	c.2173A>G	c.(2173-2175)AAC>GAC	p.N725D	DLC1_uc003wwk.1_Missense_Mutation_p.N288D|DLC1_uc003wwl.1_Missense_Mutation_p.N322D|DLC1_uc011kxx.1_Missense_Mutation_p.N214D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	725					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						ATGGGGACGTTGATGCGGTTG	0.607													C	12957673	T	C	12957673	3	2	193	1	0	0	0	0	1	0	0	0	4550	1812	63	3	2453	3	DLC1	8	12957673	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	7380	12957673	133406349	734	105967											
MTUS1	57509	broad.mit.edu	37	chr8	17611619	17611619	+	Frame_Shift_Del	DEL	T	T	-													ttgttaattagaatttctgcTtttttgtctgcattcaagtc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:17611618_17611618CT>C	uc003wxv.3	-	1	2173	c.1699_1699AG>G	c.(1699-1701)gcafs	p.A567fs	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Del_p.A567fs|MTUS1_uc010lsz.3_Frame_Shift_Del_p.A567fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	567						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)		AGAATTTCTGCTTTTTTGTCT	0.403													-	17611619	T	-	17611619	7	5	193	1	0	1	0	1	0	0	0	0	9965	1606	56	0	2489	0	MTUS1	8	17611619	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	4653946	17611619	128752403	735	105968											
LPL	4023	broad.mit.edu	37	chr8	19816811	19816811	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attcatttttctgggactgaGagtgaaacccataccaatca	7	9	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:19816811G>C	uc003wzk.3	+	7	1429	c.1059G>C	c.(1057-1059)GAG>GAC	p.E353D		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	353	PLAT.|Heparin-binding (By similarity).				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CTGGGACTGAGAGTGAAACCC	0.448													C	19816811	G	C	19816811	3	2	193	1	0	0	0	0	1	0	0	0	8921	933	33	5	1085	5	LPL	8	19816811	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2205192	19816811	126547211	736	105969											
XPO7	23039	broad.mit.edu	37	chr8	21840230	21840230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgtgccgtatgtcaAagccacagagccccacatgc	9	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:21840230A>G	uc003xaa.3	+	11	1286	c.1184A>G	c.(1183-1185)AAA>AGA	p.K395R	XPO7_uc010lti.2_Missense_Mutation_p.K404R|XPO7_uc010ltk.2_Missense_Mutation_p.K396R	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	395				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCGTATGTCAAAGCCACAGAG	0.498													G	21840230	A	G	21840230	3	3	193	1	0	0	0	0	1	0	0	0	17446	14	1	3	1278	3	XPO7	8	21840230	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2023419	21840230	124523792	737	105970											
SFTPC	6440	broad.mit.edu	37	chr8	22021060	22021061	+	Splice_Site	INS	-	-	GT													aaaagtccacaacttccaggINStgtgtgtgtgtgggtgaaaa					rs149538549	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:22021059_22021060G>GGT	uc003xaw.4	+	7	1285	c.582_splice	c.e7+1	p.Q194_splice	SFTPC_uc003xax.4_Splice_Site_p.Q145_splice|SFTPC_uc003xay.4_Splice_Site_p.Q145_splice|SFTPC_uc003xaz.3_Splice_Site_p.Q145_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	145	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		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)		ACAACTTCCAGGTGTGTGTGTG	0.545													GT	22021061	-	GT	22021060	8	5	193	1	0	1	1	0	0	0	1	0	14192	1275	44	0	450	0	SFTPC	8	22021060	Splice_Site	INS	-	TCGA-CG-5726-01A-11D-1600-08	180830	22021060	124342962	738	105971											
EGR3	1960	broad.mit.edu	37	chr8	22550362	22550362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccggagaagaggttgagCgcgctggggatctcctcggg	18	10	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:22550362C>T	uc003xcm.1	-	1	454	c.96G>A	c.(94-96)GCG>GCA	p.A32A	EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.1_5'Flank	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	32					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		AGAGGTTGAGCGCGCTGGGGA	0.453													T	22550362	C	T	22550362	2	4	193	1	0	0	0	0	0	0	0	1	4973	755	27	1		1	EGR3	8	22550362	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	529302	22550362	123813660	739	105972											
SLC25A37	51312	broad.mit.edu	37	chr8	23429052	23429052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccaccggacctacaaccCgcagtcccacatcatctcag	5	21	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:23429052C>A	uc003xdo.2	+	4	854	c.701C>A	c.(700-702)CCG>CAG	p.P234Q	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	234	Solcar 3.|Helical; Name=5; (Potential).				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		ACCTACAACCCGCAGTCCCAC	0.622													A	23429052	C	A	23429052	3	1	193	1	0	0	0	0	1	0	0	0	14501	652	23	5	715	5	SLC25A37	8	23429052	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	878690	23429052	122934970	740	105973											
DOCK5	80005	broad.mit.edu	37	chr8	25216527	25216527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagcaaatggacgacAgccactatagccactacatc	8	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:25216527A>G	uc003xeg.2	+	28	3036	c.2899A>G	c.(2899-2901)AGC>GGC	p.S967G	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.S681G|DOCK5_uc003xei.2_Missense_Mutation_p.S537G|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	967						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		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)		AATGGACGACAGCCACTATAG	0.458													G	25216527	A	G	25216527	3	3	193	1	0	0	0	0	1	0	0	0	4690	188	7	3	3009	3	DOCK5	8	25216527	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1787475	25216527	121147495	741	105974											
CDCA2	157313	broad.mit.edu	37	chr8	25325861	25325861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgaaggaaaagtaattGgtctccagatattcaatatt	8	5	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:25325861G>A	uc003xep.1	+	6	1146	c.667G>A	c.(667-669)GGT>AGT	p.G223S	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.G223S|CDCA2_uc003xeq.1_Missense_Mutation_p.G208S|CDCA2_uc003xer.1_5'UTR	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	223					cell division|mitosis	cytoplasm|nucleus					0		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)		AAAAGTAATTGGTCTCCAGAT	0.413													A	25325861	G	A	25325861	3	1	193	1	0	0	0	0	1	0	0	0	3086	1348	47	4	685	4	CDCA2	8	25325861	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	109334	25325861	121038161	742	105975											
CDCA2	157313	broad.mit.edu	37	chr8	25364584	25364584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtcttaattgaaaataCgaaagaatctaaaagccaga	7	5	2	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:25364584C>T	uc003xep.1	+	15	2881	c.2402C>T	c.(2401-2403)ACG>ATG	p.T801M	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.T786M|CDCA2_uc003xer.1_Missense_Mutation_p.T464M	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	801					cell division|mitosis	cytoplasm|nucleus					0		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)		ATTGAAAATACGAAAGAATCT	0.393													T	25364584	C	T	25364584	3	4	193	1	0	0	0	0	1	0	0	0	3086	536	19	1	2456	1	CDCA2	8	25364584	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	38723	25364584	120999438	743	105976											
DPYSL2	1808	broad.mit.edu	37	chr8	26481759	26481759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgactactctctgcaTgtggacatcagtgagtggca	12	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:26481759T>C	uc003xfb.1	+	4	764	c.414T>C	c.(412-414)CAT>CAC	p.H138H	DPYSL2_uc003xfa.2_Silent_p.H243H|DPYSL2_uc011lag.1_Silent_p.H138H|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.H102H	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	138					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		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)		ACTCTCTGCATGTGGACATCA	0.552													C	26481759	T	C	26481759	2	2	193	1	0	0	0	0	0	0	0	1	4747	1461	51	3		3	DPYSL2	8	26481759	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1117175	26481759	119882263	744	105977											
STMN4	81551	broad.mit.edu	37	chr8	27097516	27097516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgttccaacatggcgGcgaggtgggcctccctgttc	14	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:27097516G>T	uc003xfk.2	-	5	596	c.482C>A	c.(481-483)GCC>GAC	p.A161D	STMN4_uc003xfj.2_Missense_Mutation_p.A188D|STMN4_uc011lai.1_Missense_Mutation_p.A188D|STMN4_uc011laj.1_Missense_Mutation_p.A152D|STMN4_uc011lak.1_Missense_Mutation_p.A188D|STMN4_uc010luo.2_Missense_Mutation_p.A161D			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	161	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CAACATGGCGGCGAGGTGGGC	0.527													T	27097516	G	T	27097516	3	4	193	1	0	0	0	0	1	0	0	0	15310	1203	42	5	95	5	STMN4	8	27097516	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	615757	27097516	119266506	745	105978											
EPHX2	2053	broad.mit.edu	37	chr8	27398071	27398071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaagtggctttttttgcagGaggactttttgtaaatagcc	10	6	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:27398071G>T	uc003xfu.2	+	15	1358	c.1277G>T	c.(1276-1278)GGA>GTA	p.G426V	EPHX2_uc010luu.2_Missense_Mutation_p.G394V|EPHX2_uc010luv.2_Missense_Mutation_p.G360V|EPHX2_uc003xfv.2_Missense_Mutation_p.G373V|EPHX2_uc010luw.2_Missense_Mutation_p.G360V	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	426	Epoxide hydrolase.				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			ovary(1)	1		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)	TTTTTTGCAGGAGGACTTTTT	0.507													T	27398071	G	T	27398071	3	4	193	1	0	0	0	0	1	0	0	0	5180	1188	41	5	1335	5	EPHX2	8	27398071	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	300555	27398071	118965951	746	105979											
ZNF395	55893	broad.mit.edu	37	chr8	28206656	28206656	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcacctggcaccactctgGgcccggggtggagaagtgac	14	13	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:28206656G>T	uc003xgq.2	-	9	1504	c.1416C>A	c.(1414-1416)GCC>GCA	p.A472A	ZNF395_uc003xgt.2_Silent_p.A472A|ZNF395_uc003xgr.2_Silent_p.A472A|ZNF395_uc003xgs.2_Silent_p.A472A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	472					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CACCACTCTGGGCCCGGGGTG	0.637													T	28206656	G	T	28206656	2	4	193	1	0	0	0	0	0	0	0	1	17878	1219	43	5		5	ZNF395	8	28206656	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	808585	28206656	118157366	747	105980											
EXTL3	2137	broad.mit.edu	37	chr8	28574452	28574452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccttctctataacgtcagTactggccgtgccatggtggc	10	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:28574452T>C	uc003xgz.1	+	3	1469	c.876T>C	c.(874-876)AGT>AGC	p.S292S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	292	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATAACGTCAGTACTGGCCGTG	0.522													C	28574452	T	C	28574452	2	2	193	1	0	0	0	0	0	0	0	1	5327	1635	57	3		3	EXTL3	8	28574452	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	367796	28574452	117789570	748	105981											
UBXN8	7993	broad.mit.edu	37	chr8	30620808	30620808	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagttactgttgctctcCgatgtcccagtgggaatgtc	12	9	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:30620808C>T	uc003xii.2	+	7	606	c.589C>T	c.(589-591)CGA>TGA	p.R197*	UBXN8_uc010lvi.2_Nonsense_Mutation_p.R160*|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	NM_005671	NP_005662	O00124	UBXN8_HUMAN	reproduction 8	197	UBX.				single fertilization						0						TGTTGCTCTCCGATGTCCCAG	0.393													T	30620808	C	T	30620808	4	4	193	1	0	0	0	0	0	1	0	0	16916	644	23	1	615	1	UBXN8	8	30620808	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2046356	30620808	115743214	749	105982											
PURG	29942	broad.mit.edu	37	chr8	30889958	30889958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctagacagtccttcagcTccgctgccacagacagggag	10	16	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:30889958T>C	uc003xin.2	-	1	360	c.341A>G	c.(340-342)GAG>GGG	p.E114G	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E114G	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	114	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GTCCTTCAGCTCCGCTGCCAC	0.582													C	30889958	T	C	30889958	3	2	193	1	0	0	0	0	1	0	0	0	12829	1551	54	3	815	3	PURG	8	30889958	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	269150	30889958	115474064	750	105983											
UNC5D	137970	broad.mit.edu	37	chr8	35608257	35608257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggcggtttttggctGcatgtcctgtaactccctgg	14	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:35608257G>A	uc003xjr.1	+	13	2421	c.2093G>A	c.(2092-2094)TGC>TAC	p.C698Y	UNC5D_uc003xjs.1_Missense_Mutation_p.C693Y|UNC5D_uc003xju.1_Missense_Mutation_p.C274Y	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	698	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTTTTTGGCTGCATGTCCTGT	0.473													A	35608257	G	A	35608257	3	1	193	1	0	0	0	0	1	0	0	0	16992	1319	46	2	2143	2	UNC5D	8	35608257	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4718299	35608257	110755765	751	105984											
PLEKHA2	59339	broad.mit.edu	37	chr8	38775508	38775508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacatcgaggagcatgagAacagcggcaagtttctgcgg	15	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:38775508A>G	uc003xmi.3	+	2	295	c.61A>G	c.(61-63)AAC>GAC	p.N21D	PLEKHA2_uc011lce.1_Intron	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	21	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGAGCATGAGAACAGCGGCAA	0.567													G	38775508	A	G	38775508	3	3	193	1	0	0	0	0	1	0	0	0	12056	246	9	3	63	3	PLEKHA2	8	38775508	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3167251	38775508	107588514	752	105985											
TM2D2	83877	broad.mit.edu	37	chr8	38851177	38851177	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgctgtaggcctgaccgccGaactgtggaataacaaccaa	10	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:38851177G>A	uc003xmk.2	-	3	401	c.318C>T	c.(316-318)TTC>TTT	p.F106F	TM2D2_uc003xml.2_Silent_p.F63F|TM2D2_uc003xmm.2_Silent_p.F63F|TM2D2_uc003xmn.2_Silent_p.F63F	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	106						integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCTGACCGCCGAACTGTGGAA	0.458													A	38851177	G	A	38851177	2	1	193	1	0	0	0	0	0	0	0	1	15961	1049	37	1		1	TM2D2	8	38851177	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	75669	38851177	107512845	753	105986											
ANK1	286	broad.mit.edu	37	chr8	41753883	41753883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctcctaccttcttctttCggtcacgggagcggtttctc	8	16	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:41753883C>T	uc003xom.2	-	1	398	c.116G>A	c.(115-117)CGA>CAA	p.R39Q		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			CTTCTTCTTTCGGTCACGGGA	0.537													T	41753883	C	T	41753883	3	4	193	1	0	0	0	0	1	0	0	0	620	884	31	1	6181	1	ANK1	8	41753883	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2902706	41753883	104610139	754	105987											
MYST3	7994	broad.mit.edu	37	chr8	41792077	41792077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcctccttcctctcctCgggtaggggcatgtcttctt	8	16	3	0	rs139494583		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:41792077C>T	uc010lxb.2	-	18	4205	c.3661G>A	c.(3661-3663)GAG>AAG	p.E1221K	MYST3_uc010lxc.2_Missense_Mutation_p.E1221K|MYST3_uc003xon.3_Missense_Mutation_p.E1221K	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1221	Glu-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			ttcctctcctcGGGTAGGGGC	0.348													T	41792077	C	T	41792077	3	4	193	1	0	0	0	0	1	0	0	0	10104	893	31	1	2357	1	MYST3	8	41792077	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	38194	41792077	104571945	755	105988											
CHRNB3	1142	broad.mit.edu	37	chr8	42587259	42587259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaactttcattatccacatCggtcttggtttctctgacag	6	10	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:42587259C>T	uc003xpi.1	+	5	937	c.809C>T	c.(808-810)TCG>TTG	p.S270L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	270	Helical; (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	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)			TTATCCACATCGGTCTTGGTT	0.428													T	42587259	C	T	42587259	3	4	193	1	0	0	0	0	1	0	0	0	3392	893	31	1	827	1	CHRNB3	8	42587259	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	795182	42587259	103776763	756	105989											
PRKDC	5591	broad.mit.edu	37	chr8	48825013	48825013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagcacaggaaacgtcCgcttatagagctggtacatg	12	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:48825013C>T	uc003xqi.2	-	25	2948	c.2891G>A	c.(2890-2892)CGG>CAG	p.R964Q	PRKDC_uc003xqj.2_Missense_Mutation_p.R964Q|PRKDC_uc011ldh.1_Missense_Mutation_p.R964Q	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	964					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGAAACGTCCGCTTATAGAG	0.443								NHEJ					T	48825013	C	T	48825013	3	4	193	1	0	0	0	0	1	0	0	0	12521	652	23	1	9742	1	PRKDC	8	48825013	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6237754	48825013	97539009	757	105990											
MCM4	4173	broad.mit.edu	37	chr8	48883979	48883979	+	Frame_Shift_Del	DEL	A	A	-													ttgagtctcagtggaatcctAaaaaaacaaccattgaaaac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:48883978_48883978TA>T	uc003xqk.2	+	12	2704	c.1878_1878TA>T	c.(1876-1878)cctfs	p.P626fs	MCM4_uc003xql.2_Frame_Shift_Del_p.P626fs|MCM4_uc011ldi.2_Frame_Shift_Del_p.P613fs	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	626	MCM.				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|cell cycle checkpoint	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)				AGTGGAATCCTAAAAAAACAA	0.408													-	48883979	A	-	48883979	7	5	193	1	0	1	0	1	0	0	0	0	9389	363	13	0	1925	0	MCM4	8	48883979	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	58966	48883979	97480043	758	105991											
NPBWR1	2831	broad.mit.edu	37	chr8	53852514	53852514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccgccaacgcatcggGcccggacccggcgctgagct	14	18	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:53852514G>A	uc011ldu.1	+	1	47	c.47G>A	c.(46-48)GGC>GAC	p.G16D		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	16	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AACGCATCGGGCCCGGACCCG	0.716													A	53852514	G	A	53852514	3	1	193	1	0	0	0	0	1	0	0	0	10568	1203	42	2	49	2	NPBWR1	8	53852514	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4968535	53852514	92511508	759	105992											
RP1	6101	broad.mit.edu	37	chr8	55533629	55533629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcactcatcctgttgtgGccaagcgaatcagtttctac	8	13	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:55533629G>A	uc003xsd.1	+	2	251	c.103G>A	c.(103-105)GCC>ACC	p.A35T	RP1_uc011ldy.1_Missense_Mutation_p.A35T	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	35					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			skin(7)|ovary(4)|pancreas(1)	12		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)			TCCTGTTGTGGCCAAGCGAAT	0.527													A	55533629	G	A	55533629	3	1	193	1	0	0	0	0	1	0	0	0	13532	1203	42	2	105	2	RP1	8	55533629	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1681115	55533629	90830393	760	105993											
MOS	4342	broad.mit.edu	37	chr8	57026185	57026185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgctggcagccaccacGcgcacgatgttatcgtggcg	14	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:57026185G>A	uc011leb.1	-	1	357	c.357C>T	c.(355-357)CGC>CGT	p.R119R		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	119	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAGCCACCACGCGCACGATGT	0.562													A	57026185	G	A	57026185	2	1	193	1	0	0	0	0	0	0	0	1	9712	1074	38	1		1	MOS	8	57026185	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1492556	57026185	89337837	761	105994											
PLAG1	5324	broad.mit.edu	37	chr8	57080054	57080054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcaggagaatgagtaGccatgtgcctttaaacacag	9	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:57080054G>T	uc003xsq.3	-	3	702	c.251C>A	c.(250-252)GCT>GAT	p.A84D	PLAG1_uc003xsr.3_Missense_Mutation_p.A84D|PLAG1_uc010lyi.2_Missense_Mutation_p.A84D|PLAG1_uc010lyj.2_Missense_Mutation_p.A2D	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	84	Interacts with KPNA2.|C2H2-type 2.|Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AGAATGAGTAGCCATGTGCCT	0.358			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								T	57080054	G	T	57080054	3	4	193	1	0	0	0	0	1	0	0	0	12018	971	34	5	1255	5	PLAG1	8	57080054	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	53869	57080054	89283968	762	105995											
CYP7A1	1581	broad.mit.edu	37	chr8	59404268	59404268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtaatactttaacttgagTccattacaatagaaggtagt	7	5	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:59404268T>C	uc003xtm.3	-	6	1344	c.1281A>G	c.(1279-1281)GGA>GGG	p.G427G		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	427					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			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTAACTTGAGTCCATTACAAT	0.358									Neonatal_Giant_Cell_Hepatitis				C	59404268	T	C	59404268	2	2	193	1	0	0	0	0	0	0	0	1	4196	1654	58	3		3	CYP7A1	8	59404268	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2324214	59404268	86959754	763	105996											
ASPH	444	broad.mit.edu	37	chr8	62593555	62593555	+	Frame_Shift_Del	DEL	A	A	-													actttggcatcatccacatcAaaatctccatcaccatcagc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:62593554_62593554CA>C	uc003xuj.3	-	2	564	c.295_295TG>G	c.(295-297)gatfs	p.D99fs	ASPH_uc011leg.2_Frame_Shift_Del_p.D70fs|ASPH_uc003xuo.2_Frame_Shift_Del_p.D99fs|ASPH_uc003xul.3_Frame_Shift_Del_p.D85fs|ASPH_uc011lei.2_Frame_Shift_Del_p.D85fs|ASPH_uc011lej.2_Frame_Shift_Del_p.D85fs|ASPH_uc011leh.2_Frame_Shift_Del_p.D85fs|ASPH_uc003xum.3_Frame_Shift_Del_p.D99fs|ASPH_uc003xun.3_Frame_Shift_Del_p.D99fs|ASPH_uc011lek.2_Frame_Shift_Del_p.D99fs|ASPH_uc011lel.2_Frame_Shift_Del_p.D85fs|ASPH_uc011lem.2_Frame_Shift_Del_p.D70fs|ASPH_uc003xur.3_Frame_Shift_Del_p.D114fs	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	99					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)	TCATCCACATCAAAATCTCCA	0.294													-	62593555	A	-	62593555	7	5	193	1	0	1	0	1	0	0	0	0	1053	127	5	0	2741	0	ASPH	8	62593555	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	3189287	62593555	83770467	764	105997											
CSPP1	79848	broad.mit.edu	37	chr8	68062155	68062155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaacctagaagatgctGcaaataaaagctcaggtttt	9	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:68062155G>A	uc003xxi.2	+	18	2234	c.2203G>A	c.(2203-2205)GCA>ACA	p.A735T	CSPP1_uc003xxg.1_Missense_Mutation_p.A727T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A700T|CSPP1_uc003xxk.2_Intron	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	735						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	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)			AGAAGATGCTGCAAATAAAAG	0.318													A	68062155	G	A	68062155	3	1	193	1	0	0	0	0	1	0	0	0	3962	1319	46	2	2273	2	CSPP1	8	68062155	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5468600	68062155	78301867	765	105998											
ARFGEF1	10565	broad.mit.edu	37	chr8	68172074	68172074	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaatctttcctcttgatgTaagaattgggcaatatcttc	6	8	4	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:68172074T>C	uc003xxo.1	-	15	2601	c.2211A>G	c.(2209-2211)TTA>TTG	p.L737L	ARFGEF1_uc003xxl.1_Silent_p.L191L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	737	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			CCTCTTGATGTAAGAATTGGG	0.308													C	68172074	T	C	68172074	2	2	193	1	0	0	0	0	0	0	0	1	852	1635	57	3		3	ARFGEF1	8	68172074	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	109919	68172074	78191948	766	105999											
NCOA2	10499	broad.mit.edu	37	chr8	71087086	71087086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatctatgttggcagctgCtgctttctctgcaataaaca	7	10	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:71087086C>T	uc003xyn.1	-	5	430	c.268G>A	c.(268-270)GCA>ACA	p.A90T		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	90					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGGCAGCTGCTGCTTTCTCT	0.423			T	RUNXBP2	AML								T	71087086	C	T	71087086	3	4	193	1	0	0	0	0	1	0	0	0	10229	797	28	2	4202	2	NCOA2	8	71087086	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2915012	71087086	75276936	767	106000											
JPH1	56704	broad.mit.edu	37	chr8	75233270	75233270	+	Frame_Shift_Del	DEL	C	C	-													cttgaaaccatgtgaccactCcccccggtacatccacttgc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:75233269_75233269TC>T	uc003yae.3	-	0	294	c.254_254GA>A	c.(253-255)gagfs	p.E85fs	JPH1_uc003yaf.3_Frame_Shift_Del_p.E85fs|JPH1_uc003yag.1_Intron	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	85	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)			ATGTGACCACTCCCCCCGGTA	0.667													-	75233270	C	-	75233270	7	5	193	1	0	1	0	1	0	0	0	0	7960	864	30	0	1752	0	JPH1	8	75233270	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	4146184	75233270	71130752	768	106001											
ZFHX4	79776	broad.mit.edu	37	chr8	77616635	77616635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccactgccctaatgcccgCcttcctgtcctgaaggatga	8	16	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:77616635C>T	uc003yav.2	+	2	699	c.312C>T	c.(310-312)CGC>CGT	p.R104R	ZFHX4_uc003yat.1_Silent_p.R104R|ZFHX4_uc003yau.1_Silent_p.R104R|ZFHX4_uc003yaw.1_Silent_p.R104R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAATGCCCGCCTTCCTGTCC	0.502										HNSCC(33;0.089)			T	77616635	C	T	77616635	2	4	193	1	0	0	0	0	0	0	0	1	17632	726	26	2		2	ZFHX4	8	77616635	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2383365	77616635	68747387	769	106002											
ZFHX4	79776	broad.mit.edu	37	chr8	77763270	77763270	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaaggatgtgaaaatcccCgacacactgcaagatcaatt	8	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:77763270C>A	uc003yav.2	+	10	4365	c.3978C>A	c.(3976-3978)CCC>CCA	p.P1326P	ZFHX4_uc003yau.1_Silent_p.P1371P|ZFHX4_uc003yaw.1_Silent_p.P1326P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAAATCCCCGACACACTGC	0.418										HNSCC(33;0.089)			A	77763270	C	A	77763270	2	1	193	1	0	0	0	0	0	0	0	1	17632	639	23	5		5	ZFHX4	8	77763270	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	146635	77763270	68600752	770	106003											
CPNE3	8895	broad.mit.edu	37	chr8	87541285	87541285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttggggtttatgacaTcgacaacaaaactattgagc	9	6	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:87541285T>C	uc003ydv.2	+	4	407	c.245T>C	c.(244-246)ATC>ACC	p.I82T		NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	82	C2 1.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						GTTTATGACATCGACAACAAA	0.343													C	87541285	T	C	87541285	3	2	193	1	0	0	0	0	1	0	0	0	3813	1435	50	3	251	3	CPNE3	8	87541285	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	9778015	87541285	58822737	771	106004											
RUNX1T1	862	broad.mit.edu	37	chr8	93027002	93027002	+	Frame_Shift_Del	DEL	G	G	-													ctgaagccattgggtggtgaGggggcgccattcaaggctgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:93027001_93027001AG>A	uc022axs.1	-	3	638	c.451_451CT>T	c.(451-453)tcafs	p.S151fs	RUNX1T1_uc003yfc.2_Frame_Shift_Del_p.S65fs|RUNX1T1_uc010mam.3_Frame_Shift_Del_p.S65fs|RUNX1T1_uc003yfe.2_Frame_Shift_Del_p.S55fs|RUNX1T1_uc003yfd.3_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axo.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc010mao.3_Frame_Shift_Del_p.S65fs|RUNX1T1_uc011lgi.2_Frame_Shift_Del_p.S103fs|RUNX1T1_uc022axp.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axq.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axr.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axt.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc022axu.1_Frame_Shift_Del_p.S72fs|RUNX1T1_uc022axv.1_Frame_Shift_Del_p.S92fs|RUNX1T1_uc003yfb.2_Frame_Shift_Del_p.S55fs|RUNX1T1_uc003yff.1_Frame_Shift_Del_p.S55fs|RUNX1T1_uc003yfg.2_Frame_Shift_Del_p.S55fs	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	92	TAFH.				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)			TTGGGTGGTGAGGGGGCGCCA	0.517													-	93027002	G	-	93027002	7	5	193	1	0	1	0	1	0	0	0	0	13747	987	35	0	1577	0	RUNX1T1	8	93027002	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	5485717	93027002	53337020	772	106005											
GDF6	392255	broad.mit.edu	37	chr8	97157104	97157104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcttgctgcagcgtAgcctggacttcttgccgtgc	14	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:97157104A>G	uc003yhp.2	-	2	1155	c.1055T>C	c.(1054-1056)CTA>CCA	p.L352P		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	352					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			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCTGCAGCGTAGCCTGGACTT	0.537													G	97157104	A	G	97157104	3	3	193	1	0	0	0	0	1	0	0	0	6317	420	15	3	316	3	GDF6	8	97157104	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	4130102	97157104	49206918	773	106006											
KCNS2	3788	broad.mit.edu	37	chr8	99441238	99441238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtggggatttccatcttctCcgtggtggcctacaccattg	11	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:99441238C>A	uc003yin.2	+	2	1381	c.1031C>A	c.(1030-1032)TCC>TAC	p.S344Y		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	344	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCCATCTTCTCCGTGGTGGCC	0.582													A	99441238	C	A	99441238	3	1	193	1	0	0	0	0	1	0	0	0	8089	855	30	5	1033	5	KCNS2	8	99441238	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2284134	99441238	46922784	774	106007											
KCNS2	3788	broad.mit.edu	37	chr8	99441332	99441332	+	Frame_Shift_Del	DEL	G	G	-													accgtcagtatgaccacagtGgggtacggggatgtggtccc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:99441331_99441331TG>T	uc003yin.3	+	1	1474	c.1124_1124TG>T	c.(1123-1125)gtgfs	p.V375fs	KCNS2_uc022azb.1_Frame_Shift_Del_p.V375fs	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	375						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)			ATGACCACAGTGGGGTACGGG	0.612													-	99441332	G	-	99441332	7	5	193	1	0	1	0	1	0	0	0	0	8089	1335	47	0	1127	0	KCNS2	8	99441332	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	94	99441332	46922690	775	106008											
STK3	6788	broad.mit.edu	37	chr8	99468226	99468226	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttctaaacttagatttttCaactagatacagaaagaaag	5	6	3	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:99468226C>T	uc003yip.2	-	11	1461	c.1320G>A	c.(1318-1320)TTG>TTA	p.L440L	STK3_uc003yio.2_Silent_p.L468L	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	440	SARAH.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTAGATTTTTCAACTAGATAC	0.338													T	99468226	C	T	99468226	2	4	193	1	0	0	0	0	0	0	0	1	15294	825	29	4		4	STK3	8	99468226	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	26894	99468226	46895796	776	106009											
VPS13B	157680	broad.mit.edu	37	chr8	100523709	100523710	+	Frame_Shift_Ins	INS	-	-	A													taatcagaatttttattccaINSaaaacagaagaaatgcagcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:100523708_100523709C>CA	uc003yiv.3	+	28	4787_4788	c.4676_4677C>CA	c.(4675-4677)ccafs	p.P1559fs	VPS13B_uc003yiw.3_Frame_Shift_Ins_p.P1534fs|VPS13B_uc003yix.1_Frame_Shift_Ins_p.P1029fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1559					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)			ATTTTTATTCCAAAAACAGAAG	0.347													A	100523710	-	A	100523709	7	5	193	1	0	1	1	0	0	0	0	0	17187	117	5	0	4981	0	VPS13B	8	100523709	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1055483	100523709	45840313	777	106010											
RGS22	26166	broad.mit.edu	37	chr8	101018340	101018340	+	Splice_Site	DEL	A	A	-													ttcttccaccagctccacctAaaaaaaataaataaagcttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:101018339_101018339TA>T	uc003yjb.1	-	16	2557	c.2362_splice	c.e16-1	p.V788_splice	RGS22_uc003yja.1_Splice_Site_p.V607_splice|RGS22_uc003yjc.1_Splice_Site_p.V776_splice|RGS22_uc011lgz.1_Splice_Site|RGS22_uc022azf.1_Splice_Site_p.V177_splice	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	788					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)			CAGCTCCACCTAAAAAAAATA	0.363													-	101018340	A	-	101018340	8	5	193	1	0	1	0	1	0	0	1	0	13305	377	13	0		0	RGS22	8	101018340	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	494631	101018340	45345682	778	106011											
RRM2B	50484	broad.mit.edu	37	chr8	103237206	103237206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaagccatagaaacagCgagcctctggaacctgcacc	9	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:103237206C>T	uc003ykn.2	-	4	606	c.362G>A	c.(361-363)CGC>CAC	p.R121H	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.R69H|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	121			R -> H (in MTDPS8B).		deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	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;0.000728)			ATAGAAACAGCGAGCCTCTGG	0.408								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					T	103237206	C	T	103237206	3	4	193	1	0	0	0	0	1	0	0	0	13683	768	27	1	717	1	RRM2B	8	103237206	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2218866	103237206	43126816	779	106012											
BAALC	79870	broad.mit.edu	37	chr8	104225199	104225199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccgatctacagccccAggtggaatacccaacccaga	9	16	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:104225199A>G	uc003yld.2	+	2	418	c.213A>G	c.(211-213)CCA>CCG	p.P71P	BAALC_uc003yle.2_Intron|uc003ylf.2_Intron|BAALC_uc003ylg.2_Silent_p.P17P|BAALC_uc010mcc.2_5'Flank	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic isoform 1	106						centrosome|membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTACAGCCCCAGGTGGAATAC	0.577													G	104225199	A	G	104225199	2	3	193	1	0	0	0	0	0	0	0	1	1279	175	7	3		3	BAALC	8	104225199	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	987993	104225199	42138823	780	106013											
SLC25A32	81034	broad.mit.edu	37	chr8	104415469	104415469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttatattgtcggtgtgGggagttaacaacagcatcat	10	7	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:104415469G>A	uc003yll.2	-	4	778	c.475C>T	c.(475-477)CCA>TCA	p.P159S	SLC25A32_uc011lhr.1_Missense_Mutation_p.P27S	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	159	Solcar 2.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGTCGGTGTGGGGAGTTAACA	0.338													A	104415469	G	A	104415469	3	1	193	1	0	0	0	0	1	0	0	0	14496	1232	43	4	488	4	SLC25A32	8	104415469	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	190270	104415469	41948553	781	106014											
RIMS2	9699	broad.mit.edu	37	chr8	105257232	105257232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaactggatgactcgacaGgcaagccgagagtctacaga	13	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:105257232G>T	uc003yls.2	+	24	3718	c.3477G>T	c.(3475-3477)CAG>CAT	p.Q1159H	RIMS2_uc003ylp.2_Missense_Mutation_p.Q1141H|RIMS2_uc003ylw.2_Missense_Mutation_p.Q1148H|RIMS2_uc003ylq.2_Missense_Mutation_p.Q955H|RIMS2_uc003ylr.2_Missense_Mutation_p.Q980H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1203					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGACTCGACAGGCAAGCCGAG	0.502										HNSCC(12;0.0054)			T	105257232	G	T	105257232	3	4	193	1	0	0	0	0	1	0	0	0	13368	991	35	5	3697	5	RIMS2	8	105257232	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	841763	105257232	41106790	782	106015											
PKHD1L1	93035	broad.mit.edu	37	chr8	110510973	110510973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaatcatgagttacaatGccatcagtggccttttggac	10	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:110510973G>A	uc003yne.2	+	67	10905	c.10801G>A	c.(10801-10803)GCC>ACC	p.A3601T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3601	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGTTACAATGCCATCAGTGG	0.408										HNSCC(38;0.096)			A	110510973	G	A	110510973	3	1	193	1	0	0	0	0	1	0	0	0	11972	1319	46	2	11067	2	PKHD1L1	8	110510973	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5253741	110510973	35853049	783	106016											
CSMD3	114788	broad.mit.edu	37	chr8	114448952	114448952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacgaggttccaaaacgtAaatccacttttaatccccat	5	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:114448952A>G	uc003ynu.2	-	1	291	c.132T>C	c.(130-132)TTT>TTC	p.F44F	CSMD3_uc011lhx.1_Silent_p.F44F|CSMD3_uc010mcx.1_Silent_p.F44F|CSMD3_uc003ynx.3_Silent_p.F44F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	44	Helical; (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TCCAAAACGTAAATCCACTTT	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	114448952	A	G	114448952	2	3	193	1	0	0	0	0	0	0	0	1	3946	359	13	3		3	CSMD3	8	114448952	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3937979	114448952	31915070	784	106017											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936627	119936627	+	Frame_Shift_Del	DEL	T	T	-													ttccagttataagcagcttaTttttactgattggacctggt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:119936626_119936626AT>A	uc003yon.4	-	4	1516	c.1193_1193AT>T	c.(1192-1194)atafs	p.I398fs		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	398					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)			TAAGCAGCTTATTTTTACTGA	0.393													-	119936627	T	-	119936627	7	5	193	1	0	1	0	1	0	0	0	0	16282	1493	52	0	17	0	TNFRSF11B	8	119936627	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	5487675	119936627	26427395	785	106018											
COLEC10	10584	broad.mit.edu	37	chr8	120118226	120118226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcgggtgttcattggCgtgaatgaccttgaaaggga	13	6	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:120118226C>T	uc003yoo.2	+	6	727	c.630C>T	c.(628-630)GGC>GGT	p.G210G		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	210	C-type lectin.					collagen|cytoplasm	mannose binding			ovary(2)|skin(1)	3	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)			TGTTCATTGGCGTGAATGACC	0.522													T	120118226	C	T	120118226	2	4	193	1	0	0	0	0	0	0	0	1	3710	755	27	1		1	COLEC10	8	120118226	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	181599	120118226	26245796	786	106019											
COL14A1	7373	broad.mit.edu	37	chr8	121256240	121256240	+	Frame_Shift_Del	DEL	A	A	-													gtcagcgtctccgctcctggAaaaacctgtaagtgaagctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:121256239_121256239GA>G	uc003yox.3	+	19	2736	c.2471_2471GA>G	c.(2470-2472)ggafs	p.G824fs	COL14A1_uc003yoy.3_Frame_Shift_Del_p.G502fs	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	824	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.G824R(1)		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)			TCCGCTCCTGGAAAAACCTGT	0.468													-	121256240	A	-	121256240	7	5	193	1	0	1	0	1	0	0	0	0	3671	233	9	0	2546	0	COL14A1	8	121256240	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1138014	121256240	25107782	787	106020											
SNTB1	6641	broad.mit.edu	37	chr8	121823609	121823609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgttcacggacaggatggCgtcgcccacgtacagggctt	13	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:121823609C>T	uc010mdg.2	-	1	701	c.475G>A	c.(475-477)GCC>ACC	p.A159T	SNTB1_uc003ype.2_Missense_Mutation_p.A159T	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	159	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GACAGGATGGCGTCGCCCACG	0.642													T	121823609	C	T	121823609	3	4	193	1	0	0	0	0	1	0	0	0	14872	768	27	1	1169	1	SNTB1	8	121823609	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	567369	121823609	24540413	788	106021											
ZHX2	22882	broad.mit.edu	37	chr8	123964440	123964440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcctctcgagactcggCggggtggagctcctccaaga	14	12	1	3	rs142739771		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:123964440C>T	uc003ypk.1	+	3	1257	c.690C>T	c.(688-690)GGC>GGT	p.G230G		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	230	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGACTCGGCGGGGTGGAGC	0.577													T	123964440	C	T	123964440	2	4	193	1	0	0	0	0	0	0	0	1	17673	755	27	1		1	ZHX2	8	123964440	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2140831	123964440	22399582	789	106022											
KLHL38	340359	broad.mit.edu	37	chr8	124664458	124664458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggagggcatcgttggCgatgaagtggtgaaagaagg	18	5	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:124664458C>T	uc003yqs.1	-	1	733	c.709G>A	c.(709-711)GCC>ACC	p.A237T		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	237	BACK.										0						GCATCGTTGGCGATGAAGTGG	0.562													T	124664458	C	T	124664458	3	4	193	1	0	0	0	0	1	0	0	0	8390	768	27	1	1048	1	KLHL38	8	124664458	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	700018	124664458	21699564	790	106023											
FER1L6	654463	broad.mit.edu	37	chr8	124988326	124988326	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttgctgggcagatggTgaggaaccattgtcactaac	11	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:124988326T>C	uc003yqw.2	+	9	1076	c.870_splice	c.e9+2	p.M290_splice		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6							integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGGCAGATGGTGAGGAACCAT	0.463													C	124988326	T	C	124988326	5	2	193	1	0	0	0	0	0	0	1	0	5815	1710	59	3	902	3	FER1L6	8	124988326	Splice_Site	SNP	T	TCGA-CG-5726-01A-11D-1600-08	323868	124988326	21375696	791	106024											
RNF139	11236	broad.mit.edu	37	chr8	125498553	125498554	+	Frame_Shift_Del	DEL	AC	AC	-													atgtatcgaatttacggattAcagttattgatggaggacac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:125498552_125498553TAC>T	uc003yrc.3	+	1	1005_1006	c.662_663TAC>T	c.(661-663)ttafs	p.L221fs		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	221					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTACGGATTACAGTTATTGA	0.391													-	125498554	AC	-	125498553	7	5	193	1	0	1	0	1	0	0	0	0	13442	388	14	0	669	0	RNF139	8	125498553	Frame_Shift_Del	DEL	AC	TCGA-CG-5726-01A-11D-1600-08	510227	125498553	20865469	792	106025											
ADCY8	114	broad.mit.edu	37	chr8	132052107	132052107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagatttgaaggagttgCgcagggtggggaaaatgacc	16	7	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:132052107C>T	uc003ytd.3	-	1	729	c.473G>A	c.(472-474)CGC>CAC	p.R158H	ADCY8_uc010mds.2_Missense_Mutation_p.R158H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	158	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAGGAGTTGCGCAGGGTGGG	0.552										HNSCC(32;0.087)			T	132052107	C	T	132052107	3	4	193	1	0	0	0	0	1	0	0	0	300	768	27	1	3354	1	ADCY8	8	132052107	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6553554	132052107	14311915	793	106026											
ZFAT	57623	broad.mit.edu	37	chr8	135649909	135649909	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttctgtgctggacttcttCgtggaccccttaggcctgcc	10	14	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:135649909C>T	uc003yup.2	-	3	418	c.243G>A	c.(241-243)ACG>ACA	p.T81T	ZFAT_uc003yun.2_Silent_p.T69T|ZFAT_uc003yuo.2_Silent_p.T69T|ZFAT_uc010meh.2_Silent_p.T69T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T69T|ZFAT_uc010mej.2_Silent_p.T81T|ZFAT_uc003yur.2_Silent_p.T69T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			TGGACTTCTTCGTGGACCCCT	0.562													T	135649909	C	T	135649909	2	4	193	1	0	0	0	0	0	0	0	1	17629	871	31	1		1	ZFAT	8	135649909	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3597802	135649909	10714113	794	106027											
KCNK9	51305	broad.mit.edu	37	chr8	140630506	140630506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccctccccacacctaaaCggacttccggcgtttcatca	5	17	2	0	rs149047706		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:140630506C>T	uc003yvf.1	-	2	1184	c.1120G>A	c.(1120-1122)GTT>ATT	p.V374I	KCNK9_uc003yvg.1_Missense_Mutation_p.V374I|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	374	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	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)			CACACCTAAACGGACTTCCGG	0.428													T	140630506	C	T	140630506	3	4	193	1	0	0	0	0	1	0	0	0	8072	536	19	1	8	1	KCNK9	8	140630506	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4980597	140630506	5733516	795	106028											
KCNK9	51305	broad.mit.edu	37	chr8	140630715	140630715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcggccgccatagtcctgcGagcggtagcaggtgcaggag	17	11	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:140630715G>A	uc003yvf.1	-	2	975	c.911C>T	c.(910-912)TCG>TTG	p.S304L	KCNK9_uc003yvg.1_Missense_Mutation_p.S304L|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	304	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	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)			ATAGTCCTGCGAGCGGTAGCA	0.632													A	140630715	G	A	140630715	3	1	193	1	0	0	0	0	1	0	0	0	8072	1059	37	1	217	1	KCNK9	8	140630715	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	209	140630715	5733307	796	106029											
PTK2	5747	broad.mit.edu	37	chr8	141799597	141799597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagacggcgtgtgtccGcatgccttgcttttcgctgt	12	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:141799597G>A	uc003yvu.2	-	14	1383	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	PTK2_uc011ljq.1_Missense_Mutation_p.R46W|PTK2_uc003yvp.2_Missense_Mutation_p.R46W|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.R284W|PTK2_uc003yvs.2_Missense_Mutation_p.R385W|PTK2_uc003yvt.2_Missense_Mutation_p.R407W|PTK2_uc003yvv.2_Missense_Mutation_p.R272W|PTK2_uc011ljr.1_Missense_Mutation_p.R385W	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	385					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			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	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)			GCGTGTGTCCGCATGCCTTGC	0.517													A	141799597	G	A	141799597	3	1	193	1	0	0	0	0	1	0	0	0	12762	1086	38	1	2081	1	PTK2	8	141799597	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1168882	141799597	4564425	797	106030											
C8orf73	642475	broad.mit.edu	37	chr8	144650000	144650000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggggtcctgtggactcCgcaggtagccctgggtctgg	18	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144650000C>T	uc010mff.2	-	12	1867	c.1823G>A	c.(1822-1824)CGG>CAG	p.R608Q		NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	608							binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGTGGACTCCGCAGGTAGCC	0.682													T	144650000	C	T	144650000	3	4	193	1	0	0	0	0	1	0	0	0	2435	652	23	1	348	1	C8orf73	8	144650000	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2850403	144650000	1714022	798	106031											
TSTA3	7264	broad.mit.edu	37	chr8	144695756	144695756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcctccttgatggagaCctcatcttcctcgcccactg	9	16	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144695756C>T	uc003yza.2	-	9	784	c.748G>A	c.(748-750)GTC>ATC	p.V250I	TSTA3_uc003yzb.2_Missense_Mutation_p.V250I	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	250					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TTGATGGAGACCTCATCTTCC	0.667													T	144695756	C	T	144695756	3	4	193	1	0	0	0	0	1	0	0	0	16671	507	18	4	229	4	TSTA3	8	144695756	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	45756	144695756	1668266	799	106032											
TSTA3	7264	broad.mit.edu	37	chr8	144697076	144697076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttgtcgttcatgtgcaCgtttttcctctgcaggggtg	13	9	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144697076C>T	uc003yza.2	-	4	307	c.271G>A	c.(271-273)GTG>ATG	p.V91M	TSTA3_uc003yzb.2_Missense_Mutation_p.V91M|TSTA3_uc011lko.1_Missense_Mutation_p.V91M	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	91					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TTCATGTGCACGTTTTTCCTC	0.607													T	144697076	C	T	144697076	3	4	193	1	0	0	0	0	1	0	0	0	16671	536	19	1	726	1	TSTA3	8	144697076	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1320	144697076	1666946	800	106033											
NRBP2	340371	broad.mit.edu	37	chr8	144920885	144920885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcagcgagtgcctggcGcgagcaatggcctcctctgt	12	14	3	0	rs140645302	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144920885G>A	uc011lkt.1	-	10	947	c.807C>T	c.(805-807)CGC>CGT	p.R269R	NRBP2_uc003yzv.2_Silent_p.R26R|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Silent_p.R26R|NRBP2_uc011lks.1_Silent_p.R26R|NRBP2_uc003yzy.2_Silent_p.R26R	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	269	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	p.R275R(1)		central_nervous_system(2)	2	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)			AGTGCCTGGCGCGAGCAATGG	0.642													A	144920885	G	A	144920885	2	1	193	1	0	0	0	0	0	0	0	1	10643	1074	38	1		1	NRBP2	8	144920885	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	223809	144920885	1443137	801	106034											
PLEC	5339	broad.mit.edu	37	chr8	144997254	144997254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgccacactcagccgCgcggcctcctccgccacctg	11	21	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:144997254C>T	uc003zaf.1	-	31	7424	c.7254G>A	c.(7252-7254)GCG>GCA	p.A2418A	PLEC_uc003zab.1_Silent_p.A2281A|PLEC_uc003zac.1_Silent_p.A2285A|PLEC_uc003zad.2_Silent_p.A2281A|PLEC_uc003zae.1_Silent_p.A2249A|PLEC_uc003zag.1_Silent_p.A2259A|PLEC_uc003zah.2_Silent_p.A2267A|PLEC_uc003zaj.2_Silent_p.A2308A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2418	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACTCAGCCGCGCGGCCTCCT	0.642													T	144997254	C	T	144997254	2	4	193	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144997254	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	76369	144997254	1366768	802	106035											
PARP10	84875	broad.mit.edu	37	chr8	145052082	145052082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggcctcaccgttgcgGccgcagaagctgcggttgaa	14	13	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145052082G>A	uc003zal.3	-	10	2832	c.2724C>T	c.(2722-2724)GGC>GGT	p.G908G	PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.3_Silent_p.G605G|PARP10_uc011lku.1_Silent_p.G920G|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.G899G	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	908	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			CACCGTTGCGGCCGCAGAAGC	0.721													A	145052082	G	A	145052082	2	1	193	1	0	0	0	0	0	0	0	1	11455	1190	42	2		2	PARP10	8	145052082	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	54828	145052082	1311940	803	106036											
HEATR7A	727957	broad.mit.edu	37	chr8	145235115	145235115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagcaggcggcgagtgGcgtcctggtggccgtgggaa	20	10	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145235115G>A	uc003zbk.3	+	6	572	c.335G>A	c.(334-336)GGC>GAC	p.G112D	HEATR7A_uc003zbg.2_Missense_Mutation_p.G112D|HEATR7A_uc003zbh.3_Missense_Mutation_p.G112D|HEATR7A_uc003zbi.3_Missense_Mutation_p.G112D|HEATR7A_uc011lla.1_Missense_Mutation_p.G112D|HEATR7A_uc010mft.2_Missense_Mutation_p.G112D	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	112							binding				0						GCGGCGAGTGGCGTCCTGGTG	0.632													A	145235115	G	A	145235115	3	1	193	1	0	0	0	0	1	0	0	0	7034	1203	42	2	349	2	HEATR7A	8	145235115	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	183033	145235115	1128907	804	106037											
NFKBIL2	4796	broad.mit.edu	37	chr8	145660224	145660224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctggcaggccctgcggtAgcggtcagtcaacgggggca	17	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145660224A>G	uc011llg.1	-	20	3070	c.3055T>C	c.(3055-3057)TAC>CAC	p.Y1019H	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1019					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			GCCCTGCGGTAGCGGTCAGTC	0.657													G	145660224	A	G	145660224	3	3	193	1	0	0	0	0	1	0	0	0	10382	420	15	3	1109	3	NFKBIL2	8	145660224	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	425109	145660224	703798	805	106038											
ZNF251	90987	broad.mit.edu	37	chr8	145948631	145948631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgagtttgccctcacgGccccatgcttcccgaaactc	7	16	2	1	rs35964302		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr8:145948631G>A	uc003zdv.3	-	5	670	c.414C>T	c.(412-414)GGC>GGT	p.G138G		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGCCCTCACGGCCCCATGCTT	0.458													A	145948631	G	A	145948631	2	1	193	1	0	0	0	0	0	0	0	1	17793	1190	42	2		2	ZNF251	8	145948631	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	288407	145948631	415391	806	106039											
DOCK8	81704	broad.mit.edu	37	chr9	312043	312043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctccgcagcctgcagccTgacaagcggctagaaaacct	10	15	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:312043T>C	uc003zgf.2	+	6	730	c.618T>C	c.(616-618)CCT>CCC	p.P206P	DOCK8_uc011lls.1_Silent_p.P206P|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.P138P|DOCK8_uc010mgt.2_Silent_p.P138P|DOCK8_uc003zgg.2_Silent_p.P138P|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	206					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		GCCTGCAGCCTGACAAGCGGC	0.602													C	312043	T	C	312043	2	2	193	1	0	0	0	0	0	0	0	1	4693	1567	55	3		3	DOCK8	9	312043	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08		312043	140901388	807	106040											
CNTLN	54875	broad.mit.edu	37	chr9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-													ggcgacaaataagagagcttAaaaaaatgaagaaaaacagg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						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)		TAAGAGAGCTTAAAAAAATGA	0.398													-	17484353	A	-	17484353	7	5	193	1	0	1	0	1	0	0	0	0	3639	363	13	0	4040	0	CNTLN	9	17484353	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	17172310	17484353	123729078	808	106041											
HAUS6	54801	broad.mit.edu	37	chr9	19063047	19063047	+	Frame_Shift_Del	DEL	T	T	-													ctctttttgaaatggatcacTttttttagctggcaaagacc					rs34558496		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:19063046_19063046CT>C	uc003znk.3	-	13	1842	c.1589_1589AG>G	c.(1588-1590)agtfs	p.S530fs	HAUS6_uc011lmz.2_Frame_Shift_Del_p.S250fs|HAUS6_uc022bdv.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znl.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znm.1_Frame_Shift_Del_p.S285fs	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	530					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|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						AAATGGATCACTTTTTTTAGC	0.373													-	19063047	T	-	19063047	7	5	193	1	0	1	0	1	0	0	0	0	6970	1609	56	0	1295	0	HAUS6	9	19063047	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1578694	19063047	122150384	809	106042											
KIAA1797	54914	broad.mit.edu	37	chr9	20862680	20862680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaactattttctctagttcCttccttaacggtcaatacaa	4	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:20862680C>A	uc003zog.1	+	18	2387	c.2024C>A	c.(2023-2025)CCT>CAT	p.P675H	KIAA1797_uc003zoh.1_Missense_Mutation_p.P111H	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	675						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TCTCTAGTTCCTTCCTTAACG	0.418													A	20862680	C	A	20862680	3	1	193	1	0	0	0	0	1	0	0	0	8258	681	24	5	2082	5	KIAA1797	9	20862680	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1799633	20862680	120350751	810	106043											
C9orf72	203228	broad.mit.edu	37	chr9	27556644	27556644	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctctccagaaggctgtcaGctcggatctcatgtatctac	10	12	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:27556644G>C	uc003zqq.2	-	8	1103	c.1006C>G	c.(1006-1008)CTG>GTG	p.L336V		NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	336										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AAGGCTGTCAGCTCGGATCTC	0.443													C	27556644	G	C	27556644	3	2	193	1	0	0	0	0	1	0	0	0	2495	962	34	5	455	5	C9orf72	9	27556644	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6693964	27556644	113656787	811	106044											
DDX58	23586	broad.mit.edu	37	chr9	32481357	32481357	+	Frame_Shift_Del	DEL	A	A	-													cccgcaaatgtgaagtgtatAaaaacagggctttacaaatc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:32481356_32481356TA>T	uc003zra.3	-	10	1778	c.1620_1620TA>A	c.(1618-1620)ttafs	p.L540fs	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Frame_Shift_Del_p.L495fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.L337fs|DDX58_uc010mji.3_Frame_Shift_Del_p.L469fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	540					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GTGAAGTGTATAAAAACAGGG	0.428													-	32481357	A	-	32481357	7	5	193	1	0	1	0	1	0	0	0	0	4375	372	13	0	1190	0	DDX58	9	32481357	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	4924713	32481357	108732074	812	106045											
RUSC2	9853	broad.mit.edu	37	chr9	35558263	35558263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtacttgtgccctgccGtccgcgccgtgctggaggat	14	12	0	1	rs147279845	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35558263G>A	uc003zww.2	+	7	3385	c.3130G>A	c.(3130-3132)GTC>ATC	p.V1044I	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.V1044I	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1044	RUN.					cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCCCTGCCGTCCGCGCCGT	0.572													A	35558263	G	A	35558263	3	1	193	1	0	0	0	0	1	0	0	0	13751	1145	40	1	3152	1	RUSC2	9	35558263	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3076906	35558263	105655168	813	106046											
CA9	768	broad.mit.edu	37	chr9	35680775	35680777	+	In_Frame_Del	DEL	CCT	CCT	-													atcctagccctggtttttggCctcctttttgctgtcaccag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35680774_35680776GCCT>G	uc003zxo.4	+	9	1304_1306	c.1262_1264GCCT>G	c.(1261-1266)ggcctc>gGtc	p.L423del		NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	423					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)			CTGGTTTTTGGCCTCCTTTTTGC	0.557													-	35680777	CCT	-	35680775	7	5	193	1	0	1	0	1	0	0	0	0	2524	726	26	0	1301	0	CA9	9	35680775	In_Frame_Del	DEL	CCT	TCGA-CG-5726-01A-11D-1600-08	122512	35680775	105532656	814	106047											
SPAG8	26206	broad.mit.edu	37	chr9	35811534	35811534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggaccagagccagagCcagggacagagccacagcca	13	14	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35811534C>T	uc003zye.2	-	2	624	c.509G>A	c.(508-510)GGC>GAC	p.G170D	SPAG8_uc003zyf.2_Missense_Mutation_p.G87D|SPAG8_uc003zyg.2_Missense_Mutation_p.G170D	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	170	Gly-rich.					acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			agagccagagccagggacaga	0.114													T	35811534	C	T	35811534	3	4	193	1	0	0	0	0	1	0	0	0	14984	739	26	2	1223	2	SPAG8	9	35811534	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	130759	35811534	105401897	815	106048											
OR2S2	56656	broad.mit.edu	37	chr9	35957386	35957386	+	Frame_Shift_Del	DEL	T	T	-													cagagcaggtggagaagaccTttttcctcccctcagctgag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:35957386delT	uc011lpi.1	-	1	766	c.710delA	c.(709-711)AAGfs	p.K237fs		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGAAGACCTTTTTCCTCCC	0.507													-	35957386	T	-	35957386	7	5	193	1	0	1	0	1	0	0	0	0	11015	1609	56	0	253	0	OR2S2	9	35957386	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	145852	35957386	105256045	816	106049											
FAM75A3	727830	broad.mit.edu	37	chr9	40705699	40705700	+	Frame_Shift_Ins	INS	-	-	A													tttaggaagcccaacttagaINSaaaacatgaagaaaggcttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:40705698_40705699G>GA	uc010mmj.3	+	3	3384_3385	c.3355_3356G>GA	c.(3355-3357)gaafs	p.E1119fs		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	1119						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCCCAACTTAGAAAAACATGAA	0.48													A	40705700	-	A	40705699	7	5	193	1	0	1	1	0	0	0	0	0	5621	246	9	0	3370	0	FAM75A3	9	40705699	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	4748313	40705699	100507732	817	106050											
APBA1	320	broad.mit.edu	37	chr9	72047539	72047539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatttcaatgatccggtgCcccacacggacgcctcctct	8	15	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:72047539C>T	uc004ahh.2	-	12	2631	c.2355G>A	c.(2353-2355)GGG>GGA	p.G785G		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	785	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TGATCCGGTGCCCCACACGGA	0.577													T	72047539	C	T	72047539	2	4	193	1	0	0	0	0	0	0	0	1	756	726	26	2		2	APBA1	9	72047539	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	31341840	72047539	69165892	818	106051											
TMC1	117531	broad.mit.edu	37	chr9	75404223	75404223	+	Frame_Shift_Del	DEL	A	A	-													tgacacccttgggtggtgggAaaaaaatgaagttcgtctct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:75404223delA	uc004aiz.1	+	15	1754	c.1214delA	c.(1213-1215)GAAfs	p.E405fs	TMC1_uc010moz.1_Frame_Shift_Del_p.E363fs|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Frame_Shift_Del_p.E259fs|TMC1_uc010mpa.1_Frame_Shift_Del_p.E259fs	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	405	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						GGGTGGTGGGAAAAAAATGAA	0.428													-	75404223	A	-	75404223	7	5	193	1	0	1	0	1	0	0	0	0	15981	246	9	0	1256	0	TMC1	9	75404223	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	3356684	75404223	65809208	819	106052											
KIF27	55582	broad.mit.edu	37	chr9	86465140	86465140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgaaccatattatcccGttccagaactttcattttca	3	12	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:86465140G>A	uc004ana.2	-	16	3574	c.3430C>T	c.(3430-3432)CGG>TGG	p.R1144W	KIF27_uc010mpw.2_Missense_Mutation_p.R1078W|KIF27_uc010mpx.2_Missense_Mutation_p.R1047W	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1144	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						ATATTATCCCGTTCCAGAACT	0.383													A	86465140	G	A	86465140	3	1	193	1	0	0	0	0	1	0	0	0	8296	1144	40	1	787	1	KIF27	9	86465140	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	11060917	86465140	54748291	820	106053											
KIF27	55582	broad.mit.edu	37	chr9	86482717	86482717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcctctaattcttggCgttggttcagaactttctct	7	12	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:86482717C>T	uc004ana.2	-	13	2960	c.2816G>A	c.(2815-2817)CGC>CAC	p.R939H	KIF27_uc010mpw.2_Missense_Mutation_p.R873H|KIF27_uc010mpx.2_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	939	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TAATTCTTGGCGTTGGTTCAG	0.373													T	86482717	C	T	86482717	3	4	193	1	0	0	0	0	1	0	0	0	8296	768	27	1	1413	1	KIF27	9	86482717	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	17577	86482717	54730714	821	106054											
HNRNPK	3190	broad.mit.edu	37	chr9	86585818	86585818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagagaacttaccatatcCggagccaccctaaaaacaga	8	11	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:86585818C>T	uc004ang.3	-	14	1326	c.1102G>A	c.(1102-1104)GGA>AGA	p.G368R	HNRNPK_uc011lsw.1_Missense_Mutation_p.G128R|HNRNPK_uc004and.3_Missense_Mutation_p.G128R|HNRNPK_uc004ank.3_Intron|HNRNPK_uc004anf.3_Missense_Mutation_p.G368R|HNRNPK_uc004anh.3_Missense_Mutation_p.G344R|HNRNPK_uc011lsx.1_Missense_Mutation_p.G344R|HNRNPK_uc004ani.3_Intron|HNRNPK_uc004anj.3_Intron|HNRNPK_uc004ann.3_Intron|HNRNPK_uc004anl.3_Missense_Mutation_p.G368R|HNRNPK_uc004anm.3_Missense_Mutation_p.G368R|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	368	5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.				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			skin(1)	1						TTACCATATCCGGAGCCACCC	0.279													T	86585818	C	T	86585818	3	4	193	1	0	0	0	0	1	0	0	0	7269	661	23	1	343	1	HNRNPK	9	86585818	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	103101	86585818	54627613	822	106055											
NFIL3	4783	broad.mit.edu	37	chr9	94171958	94171958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgtcatgtcaataggTgaggaaagtttttgcgtggc	13	4	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:94171958T>C	uc004arh.2	-	2	1454	c.1059A>G	c.(1057-1059)TCA>TCG	p.S353S		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	353	Necessary for transcriptional repression and sufficient for interaction with DR1.				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				0						TGTCAATAGGTGAGGAAAGTT	0.433													C	94171958	T	C	94171958	2	2	193	1	0	0	0	0	0	0	0	1	10373	1683	59	3		3	NFIL3	9	94171958	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	7586140	94171958	47041473	823	106056											
ASPN	54829	broad.mit.edu	37	chr9	95237178	95237178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggagcacatactccttcAtggtgtcttagtgtagaaga	10	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:95237178A>G	uc004ase.1	-	2	246	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Missense_Mutation_p.M1T	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	1					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						ATACTCCTTCATGGTGTCTTA	0.363													G	95237178	A	G	95237178	3	3	193	1	0	0	0	0	1	0	0	0	1057	217	8	3	1168	3	ASPN	9	95237178	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1065220	95237178	45976253	824	106057											
BICD2	23299	broad.mit.edu	37	chr9	95482892	95482892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctgttcttctgttcgCgctccgtcttcagggtctcc	11	14	5	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:95482892C>T	uc004aso.1	-	4	809	c.752G>A	c.(751-753)CGC>CAC	p.R251H	BICD2_uc004asp.1_Missense_Mutation_p.R251H	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	251	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CTTCTGTTCGCGCTCCGTCTT	0.587													T	95482892	C	T	95482892	3	4	193	1	0	0	0	0	1	0	0	0	1429	768	27	1	1841	1	BICD2	9	95482892	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	245714	95482892	45730539	825	106058											
WNK2	65268	broad.mit.edu	37	chr9	96080171	96080171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatggcgccctcggaacCgcccggagaaaccaggtgtg	14	14	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:96080171C>T	uc004ati.1	+	30	6756	c.6756C>T	c.(6754-6756)ACC>ACT	p.T2252T	WNK2_uc011lud.1_Intron|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2252					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCCTCGGAACCGCCCGGAGAA	0.682													T	96080171	C	T	96080171	2	4	193	1	0	0	0	0	0	0	0	1	17375	667	23	1		1	WNK2	9	96080171	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	597279	96080171	45133260	826	106059											
PTCH1	5727	broad.mit.edu	37	chr9	98229700	98229700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccagaaaaaggaagatcAccactacctggaacagaaga	9	10	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:98229700A>G	uc004avk.3	-	15	2446	c.2258T>C	c.(2257-2259)GTG>GCG	p.V753A	PTCH1_uc010mro.2_Missense_Mutation_p.V602A|PTCH1_uc010mrp.2_Missense_Mutation_p.V602A|PTCH1_uc010mrq.2_Missense_Mutation_p.V602A|PTCH1_uc004avl.3_Missense_Mutation_p.V602A|PTCH1_uc010mrr.2_Missense_Mutation_p.V687A|PTCH1_uc004avm.3_Missense_Mutation_p.V752A	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	753	Helical; (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGGAAGATCACCACTACCTG	0.527									Basal_Cell_Nevus_syndrome				G	98229700	A	G	98229700	3	3	193	1	0	0	0	0	1	0	0	0	12730	159	6	3	2121	3	PTCH1	9	98229700	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2149529	98229700	42983731	827	106060											
NCBP1	4686	broad.mit.edu	37	chr9	100405604	100405604	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgattcgtcaacttaaagaaTcattgaaagcaaacaattat	5	6	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:100405604T>A	uc004axq.2	+	4	802	c.343T>A	c.(343-345)TCA>ACA	p.S115T		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	115	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			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				ACTTAAAGAATCATTGAAAGC	0.353													A	100405604	T	A	100405604	3	1	193	1	0	0	0	0	1	0	0	0	10211	1435	50	5	357	5	NCBP1	9	100405604	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2175904	100405604	40807827	828	106061											
C9orf43	257169	broad.mit.edu	37	chr9	116191655	116191656	+	Frame_Shift_Ins	INS	-	-	G													tgaggaggaccagtcctctgINSgggcagagtgagaagcctct					rs41276815		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:116191654_116191655T>TG	uc004bhp.3	+	13	1820_1821	c.1374_1375T>TG	c.(1372-1377)tctgggfs	p.S458fs	C9orf43_uc004bho.4_Frame_Shift_Ins_p.S458fs	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	458										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						ACCAGTCCTCTGGGGCAGAGTG	0.525													G	116191656	-	G	116191655	7	5	193	1	0	1	1	0	0	0	0	0	2483	1348	47	0	1425	0	C9orf43	9	116191655	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	15786051	116191655	25021776	829	106062											
RGS3	5998	broad.mit.edu	37	chr9	116269742	116269742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcacggcctgagcagCgccacagctgccacctggta	12	16	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:116269742C>T	uc004bhq.2	+	14	1470	c.1261C>T	c.(1261-1263)CGC>TGC	p.R421C	RGS3_uc004bhr.2_Missense_Mutation_p.R309C|RGS3_uc004bhs.2_Missense_Mutation_p.R311C|RGS3_uc004bht.2_Missense_Mutation_p.R140C|RGS3_uc010muy.2_Missense_Mutation_p.R140C|RGS3_uc004bhu.2_Missense_Mutation_p.R47C	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	421					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GCCTGAGCAGCGCCACAGCTG	0.672													T	116269742	C	T	116269742	3	4	193	1	0	0	0	0	1	0	0	0	13306	768	27	1	1452	1	RGS3	9	116269742	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	78087	116269742	24943689	830	106063											
TNC	3371	broad.mit.edu	37	chr9	117848975	117848975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaggcatgtgggcaGgtgggtttcccgcagtcttc	17	9	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:117848975G>T	uc004bjj.3	-	3	1397	c.1035C>A	c.(1033-1035)ACC>ACA	p.T345T	TNC_uc010mvf.2_Silent_p.T345T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	345	EGF-like 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CATGTGGGCAGGTGGGTTTCC	0.612													T	117848975	G	T	117848975	2	4	193	1	0	0	0	0	0	0	0	1	16267	987	35	5		5	TNC	9	117848975	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1579233	117848975	23364456	831	106064											
CEP110	11064	broad.mit.edu	37	chr9	123898189	123898189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaagctgagctagaggctCggctaaacctaagggatgct	13	8	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:123898189C>T	uc004bkx.1	+	13	2162	c.2131C>T	c.(2131-2133)CGG>TGG	p.R711W	CEP110_uc004bky.1_Missense_Mutation_p.R315W|CEP110_uc004bkz.1_Missense_Mutation_p.R159W|CEP110_uc004bla.1_Missense_Mutation_p.R159W	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	711	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GCTAGAGGCTCGGCTAAACCT	0.498													T	123898189	C	T	123898189	3	4	193	1	0	0	0	0	1	0	0	0	3245	875	31	1	2181	1	CEP110	9	123898189	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6049214	123898189	17315242	832	106065											
RAB14	51552	broad.mit.edu	37	chr9	123954450	123954450	+	Splice_Site	DEL	T	T	-													cctcatgtattgaacttacaTtttttttctgtaaattgatg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:123954449_123954449AT>A	uc004blc.3	-	3	562	c.106_splice	c.e3+1	p.F36_splice		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	36					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGAACTTACATTTTTTTTCT	0.294													-	123954450	T	-	123954450	8	5	193	1	0	1	0	1	0	0	1	0	12900	1507	52	0	566	0	RAB14	9	123954450	Splice_Site	DEL	T	TCGA-CG-5726-01A-11D-1600-08	56261	123954450	17258981	833	106066											
RC3H2	54542	broad.mit.edu	37	chr9	125643021	125643021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtaatgcttcataactcCgaaattcctccttcagctgc	6	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:125643021C>T	uc010mwc.1	-	6	1053	c.812G>A	c.(811-813)CGG>CAG	p.R271Q	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.R271Q|RC3H2_uc004bne.3_Missense_Mutation_p.R271Q|RC3H2_uc011lzf.1_Missense_Mutation_p.R8Q|RC3H2_uc011lzg.1_Missense_Mutation_p.R271Q|SNORD90_uc004bnf.1_5'Flank	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	271						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						TTCATAACTCCGAAATTCCTC	0.413													T	125643021	C	T	125643021	3	4	193	1	0	0	0	0	1	0	0	0	13167	652	23	1	2905	1	RC3H2	9	125643021	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1688571	125643021	15570410	834	106067											
WDR38	401551	broad.mit.edu	37	chr9	127616484	127616484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcttttgtgctgtttctagGtcaactcttctgccttctcc	7	13	5	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:127616484G>C	uc004box.2	+	2	126	c.70G>C	c.(70-72)GTC>CTC	p.V24L	WDR38_uc011lzn.1_Intron|WDR38_uc011lzo.1_Missense_Mutation_p.V24L|WDR38_uc011lzp.1_5'UTR	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	24	WD 1.										0						CTGTTTCTAGGTCAACTCTTC	0.587													C	127616484	G	C	127616484	3	2	193	1	0	0	0	0	1	0	0	0	17289	1275	44	5	76	5	WDR38	9	127616484	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1973463	127616484	13596947	835	106068											
LMX1B	4010	broad.mit.edu	37	chr9	129453292	129453292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctgtgcaagggtgaCtacgagaaggagaaggacct	15	8	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:129453292C>T	uc004bqj.2	+	3	485	c.435C>T	c.(433-435)GAC>GAT	p.D145D	LMX1B_uc004bqi.2_Silent_p.D145D|LMX1B_uc011maa.1_Silent_p.D145D	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	145	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCAAGGGTGACTACGAGAAGG	0.647									Nail-Patella_Syndrome				T	129453292	C	T	129453292	2	4	193	1	0	0	0	0	0	0	0	1	8862	564	20	4		4	LMX1B	9	129453292	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1836808	129453292	11760139	836	106069											
SLC25A25	114789	broad.mit.edu	37	chr9	130864731	130864731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccgtggaaaacatccccGagatcatcctctactggaag	8	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:130864731G>A	uc004bte.2	+	4	486	c.457G>A	c.(457-459)GAG>AAG	p.E153K	SLC25A25_uc004btb.2_Missense_Mutation_p.E187K|SLC25A25_uc004btc.2_Missense_Mutation_p.E173K|SLC25A25_uc004btd.2_Missense_Mutation_p.E185K|SLC25A25_uc004btf.2_Missense_Mutation_p.E50K	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	153	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						AAACATCCCCGAGATCATCCT	0.592													A	130864731	G	A	130864731	3	1	193	1	0	0	0	0	1	0	0	0	14488	1059	37	1	959	1	SLC25A25	9	130864731	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1411439	130864731	10348700	837	106070											
SPTAN1	6709	broad.mit.edu	37	chr9	131356530	131356530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaagtttatgttgttcCgtgaagcgaatgaactacag	11	6	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:131356530C>T	uc004bvl.3	+	24	3405	c.3292C>T	c.(3292-3294)CGT>TGT	p.R1098C	SPTAN1_uc011mbg.1_Missense_Mutation_p.R1078C|SPTAN1_uc011mbh.1_Missense_Mutation_p.R1110C|SPTAN1_uc004bvm.3_Missense_Mutation_p.R1098C|SPTAN1_uc004bvn.3_Missense_Mutation_p.R1078C	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1098	Spectrin 12.				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			breast(5)|ovary(4)|pancreas(1)	10						TATGTTGTTCCGTGAAGCGAA	0.478													T	131356530	C	T	131356530	3	4	193	1	0	0	0	0	1	0	0	0	15116	652	23	1	3382	1	SPTAN1	9	131356530	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	491799	131356530	9856901	838	106071											
PKN3	29941	broad.mit.edu	37	chr9	131482711	131482711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgcccgcaccatccaGccccccttcgtgcctaccct	6	23	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:131482711G>T	uc004bvw.2	+	22	2889	c.2496G>T	c.(2494-2496)CAG>CAT	p.Q832H	PKN3_uc010myh.2_Missense_Mutation_p.A818S|PKN3_uc011mbk.1_Missense_Mutation_p.Q382H	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	832	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GCACCATCCAGCCCCCCTTCG	0.667													T	131482711	G	T	131482711	3	4	193	1	0	0	0	0	1	0	0	0	11981	962	34	5	2582	5	PKN3	9	131482711	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	126181	131482711	9730720	839	106072											
GPR107	57720	broad.mit.edu	37	chr9	132863396	132863396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttccagtttgaaaggggCgctactcttcatcaccattg	8	12	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:132863396C>T	uc004bze.2	+	12	1252	c.1025C>T	c.(1024-1026)GCG>GTG	p.A342V	GPR107_uc004bzb.2_Missense_Mutation_p.A153V|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.A342V|GPR107_uc004bzd.2_Missense_Mutation_p.A342V	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	342	Helical; Name=3; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				TTGAAAGGGGCGCTACTCTTC	0.428													T	132863396	C	T	132863396	3	4	193	1	0	0	0	0	1	0	0	0	6623	768	27	1	1071	1	GPR107	9	132863396	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1380685	132863396	8350035	840	106073											
FUBP3	8939	broad.mit.edu	37	chr9	133488372	133488372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggtgagcagatttcaCggattcaagcagaatctggt	15	6	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:133488372C>T	uc004bzr.1	+	5	412	c.304C>T	c.(304-306)CGG>TGG	p.R102W	FUBP3_uc010mzd.1_Missense_Mutation_p.R42W|FUBP3_uc004bzs.1_Missense_Mutation_p.R15W	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	102	KH 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCAGATTTCACGGATTCAAGC	0.383													T	133488372	C	T	133488372	3	4	193	1	0	0	0	0	1	0	0	0	6093	527	19	1	322	1	FUBP3	9	133488372	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	624976	133488372	7725059	841	106074											
FIBCD1	84929	broad.mit.edu	37	chr9	133779540	133779540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggaccactccacgccgtCggcataggaggcgtgcgcac	15	14	0	0	rs147030133	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:133779540C>T	uc004bzz.2	-	7	1542	c.1297G>A	c.(1297-1299)GAC>AAC	p.D433N	FIBCD1_uc011mcc.1_Missense_Mutation_p.D433N	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	433	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TCCACGCCGTCGGCATAGGAG	0.642													T	133779540	C	T	133779540	3	4	193	1	0	0	0	0	1	0	0	0	5884	884	31	1	92	1	FIBCD1	9	133779540	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	291168	133779540	7433891	842	106075											
NUP214	8021	broad.mit.edu	37	chr9	134072678	134072678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcaaaccttcttatgAggccattcctgaaagctcac	9	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134072678A>G	uc004cag.2	+	29	3908	c.3797A>G	c.(3796-3798)GAG>GGG	p.E1266G	NUP214_uc004cah.2_Missense_Mutation_p.E1256G|NUP214_uc004cai.2_Missense_Mutation_p.E696G|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.E92G|NUP214_uc011mcf.1_Missense_Mutation_p.E43G|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1266	Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.				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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCTTCTTATGAGGCCATTCCT	0.522			T	DEK|SET|ABL1	AML|T-ALL								G	134072678	A	G	134072678	3	3	193	1	0	0	0	0	1	0	0	0	10762	304	11	3	3911	3	NUP214	9	134072678	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	293138	134072678	7140753	843	106076											
PPAPDC3	84814	broad.mit.edu	37	chr9	134183576	134183576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccaccacgtcacggacGtcctctccggctttgtcatc	9	18	3	0	rs146890476		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134183576G>A	uc004cal.2	+	2	1022	c.718G>A	c.(718-720)GTC>ATC	p.V240I		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	240	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTCACGGACGTCCTCTCCGG	0.662													A	134183576	G	A	134183576	3	1	193	1	0	0	0	0	1	0	0	0	12296	1145	40	1	724	1	PPAPDC3	9	134183576	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	110898	134183576	7029855	844	106077											
BAT2L1	84726	broad.mit.edu	37	chr9	134346320	134346320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatggacccacgtatcaCgcccactcggaccccggtgg	10	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134346320C>T	uc004can.3	+	13	2112	c.2057C>T	c.(2056-2058)ACG>ATG	p.T686M	BAT2L1_uc010mzj.1_Missense_Mutation_p.T269M|BAT2L1_uc004cao.3_Missense_Mutation_p.T44M	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	686							protein binding				0						CCACGTATCACGCCCACTCGG	0.607													T	134346320	C	T	134346320	3	4	193	1	0	0	0	0	1	0	0	0	1320	536	19	1	2107	1	BAT2L1	9	134346320	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	162744	134346320	6867111	845	106078											
POMT1	10585	broad.mit.edu	37	chr9	134385313	134385313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtacatgggtgtgttcaCgtacgtgctcgtgctgggtg	15	8	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:134385313C>T	uc004cav.2	+	8	831	c.629C>T	c.(628-630)ACG>ATG	p.T210M	POMT1_uc011mci.1_3'UTR|POMT1_uc004cax.2_Missense_Mutation_p.T210M|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Missense_Mutation_p.T210M|POMT1_uc004caw.2_Missense_Mutation_p.T156M|POMT1_uc011mck.1_Missense_Mutation_p.T93M|POMT1_uc011mcl.1_Missense_Mutation_p.T58M|POMT1_uc011mcm.1_Missense_Mutation_p.T180M|POMT1_uc011mcn.1_Translation_Start_Site	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	210	Helical; (Potential).				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GGTGTGTTCACGTACGTGCTC	0.512													T	134385313	C	T	134385313	3	4	193	1	0	0	0	0	1	0	0	0	12245	536	19	1	655	1	POMT1	9	134385313	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	38993	134385313	6828118	846	106079											
NTNG2	84628	broad.mit.edu	37	chr9	135073412	135073412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccggacctggcccacccGcccaggctcatgttcgacaa	9	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135073412G>A	uc004cbh.2	+	3	1049	c.273G>A	c.(271-273)CCG>CCA	p.P91P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	91	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGGCCCACCCGCCCAGGCTCA	0.647													A	135073412	G	A	135073412	2	1	193	1	0	0	0	0	0	0	0	1	10705	1074	38	1		1	NTNG2	9	135073412	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	688099	135073412	6140019	847	106080											
NTNG2	84628	broad.mit.edu	37	chr9	135073809	135073809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcttcgccatctttgccGgccccgacctgcgcaacatg	9	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135073809G>A	uc004cbh.2	+	3	1446	c.670G>A	c.(670-672)GGC>AGC	p.G224S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	224	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CATCTTTGCCGGCCCCGACCT	0.657													A	135073809	G	A	135073809	3	1	193	1	0	0	0	0	1	0	0	0	10705	1116	39	1	676	1	NTNG2	9	135073809	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	397	135073809	6139622	848	106081											
DDX31	64794	broad.mit.edu	37	chr9	135487583	135487583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggagggatcggacgtGgaagatgtgcttcagctccc	16	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135487583G>A	uc004cbq.1	-	19	2352	c.2200C>T	c.(2200-2202)CAC>TAC	p.H734Y	DDX31_uc010mzu.1_Missense_Mutation_p.H661Y	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	734						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GATCGGACGTGGAAGATGTGC	0.557													A	135487583	G	A	135487583	3	1	193	1	0	0	0	0	1	0	0	0	4356	1348	47	4	363	4	DDX31	9	135487583	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	413774	135487583	5725848	849	106082											
RALGDS	5900	broad.mit.edu	37	chr9	135976954	135976954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacgtccaggctgacgcGgatgatacagcagtcgccca	12	14	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:135976954G>A	uc004cco.2	-	16	2427	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C	RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'UTR|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.R791C|RALGDS_uc004ccr.2_Missense_Mutation_p.R802C|RALGDS_uc011mcv.1_Missense_Mutation_p.R774C|RALGDS_uc004ccs.2_Missense_Mutation_p.R748C|RALGDS_uc011mcw.1_Missense_Mutation_p.R874C|RALGDS_uc004ccv.1_Missense_Mutation_p.P630L|RALGDS_uc004ccu.1_Missense_Mutation_p.R572C	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	803	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCTGACGCGGATGATACAG	0.642			T	CIITA	PMBL|Hodgkin Lymphona|								A	135976954	G	A	135976954	3	1	193	1	0	0	0	0	1	0	0	0	13016	1116	39	1	349	1	RALGDS	9	135976954	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	489371	135976954	5236477	850	106083											
REXO4	57109	broad.mit.edu	37	chr9	136277417	136277417	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagctgtggatgacatAccctgcttgaggttctcagg	12	10	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:136277417A>G	uc004cdm.2	-	4	1110	c.910_splice	c.e4+1	p.G304_splice	ADAMTS13_uc004cdp.3_5'Flank|REXO4_uc011mde.1_Splice_Site_p.G167_splice|REXO4_uc011mdf.1_Splice_Site_p.G167_splice|REXO4_uc004cdn.2_Splice_Site_p.G55_splice|REXO4_uc004cdo.2_Intron	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog							nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGGATGACATACCCTGCTTGA	0.498													G	136277417	A	G	136277417	5	3	193	1	0	0	0	0	0	0	1	0	13243	405	14	3	376	3	REXO4	9	136277417	Splice_Site	SNP	A	TCGA-CG-5726-01A-11D-1600-08	300463	136277417	4936014	851	106084											
KCNT1	57582	broad.mit.edu	37	chr9	138642852	138642852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctctacattgtgcgCgtcctgctcgatgacccggc	11	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:138642852C>T	uc011mdq.1	+	4	473	c.399C>T	c.(397-399)CGC>CGT	p.R133R	KCNT1_uc011mdr.1_Intron|KCNT1_uc010nbf.2_Silent_p.R85R|KCNT1_uc004cgo.1_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	133						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACATTGTGCGCGTCCTGCTCG	0.706													T	138642852	C	T	138642852	2	4	193	1	0	0	0	0	0	0	0	1	8091	755	27	1		1	KCNT1	9	138642852	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2365435	138642852	2570579	852	106085											
KCNT1	57582	broad.mit.edu	37	chr9	138670649	138670649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggacgccaagaccatcgtcAacgtgcagaccatgttccgg	11	14	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:138670649A>G	uc011mdq.1	+	23	2784	c.2710A>G	c.(2710-2712)AAC>GAC	p.N904D	KCNT1_uc011mdr.1_Missense_Mutation_p.N731D|KCNT1_uc010nbf.2_Missense_Mutation_p.N859D|KCNT1_uc004cgo.1_Missense_Mutation_p.N653D	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	904						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GACCATCGTCAACGTGCAGAC	0.637													G	138670649	A	G	138670649	3	3	193	1	0	0	0	0	1	0	0	0	8091	130	5	3	2800	3	KCNT1	9	138670649	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	27797	138670649	2542782	853	106086											
NOTCH1	4851	broad.mit.edu	37	chr9	139390651	139390651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactggtcaggggactcagGggacggggtgaggaaggggt	21	7	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139390651G>T	uc004chz.2	-	34	7540	c.7540C>A	c.(7540-7542)CCT>ACT	p.P2514T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2514	Cytoplasmic (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.T2512fs*1(1)|p.S2514fs*4(1)|p.S2514F(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGGACTCAGGGGACGGGGTG	0.662			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139390651	G	T	139390651	3	4	193	1	0	0	0	0	1	0	0	0	10547	1232	43	5	131	5	NOTCH1	9	139390651	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	720002	139390651	1822780	854	106087											
NOTCH1	4851	broad.mit.edu	37	chr9	139391646	139391646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccttgccgtcctgggacTtcttcctccgtgccttgagg	11	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139391646T>C	uc004chz.2	-	34	6545	c.6545A>G	c.(6544-6546)AAG>AGG	p.K2182R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2182	Cytoplasmic (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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCTGGGACTTCTTCCTCCG	0.657			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			C	139391646	T	C	139391646	3	2	193	1	0	0	0	0	1	0	0	0	10547	1609	56	3	1126	3	NOTCH1	9	139391646	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	995	139391646	1821785	855	106088											
C9orf172	389813	broad.mit.edu	37	chr9	139739734	139739734	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacagaggagccccaaggcTtccggggcagctttgcagcc	13	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139739734T>G	uc011meh.1	+	1	868	c.868T>G	c.(868-870)TTC>GTC	p.F290V	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	290	Pro-rich.										0						GCCCCAAGGCTTCCGGGGCAG	0.697													G	139739734	T	G	139739734	3	3	193	1	0	0	0	0	1	0	0	0	2471	1609	56	5	870	5	C9orf172	9	139739734	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	348088	139739734	1473697	856	106089											
ENTPD2	954	broad.mit.edu	37	chr9	139946009	139946009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtagaggggtgtgccCgcgtgtctctctttgggcac	15	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:139946009C>T	uc004ckw.1	-	3	395	c.339G>A	c.(337-339)GCG>GCA	p.A113A	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.A113A	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	113	Extracellular (Potential).					integral to membrane	ATP binding				0	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)		GGGGTGTGCCCGCGTGTCTCT	0.622													T	139946009	C	T	139946009	2	4	193	1	0	0	0	0	0	0	0	1	5139	639	23	1		1	ENTPD2	9	139946009	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	206275	139946009	1267422	857	106090											
DPP7	29952	broad.mit.edu	37	chr9	140005168	140005168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggctgcctttacccactCgccgatgatggtggcctcca	10	16	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr9:140005168C>T	uc004clh.2	-	13	1441	c.1411G>A	c.(1411-1413)GAG>AAG	p.E471K		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	471						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TTTACCCACTCGCCGATGATG	0.672													T	140005168	C	T	140005168	3	4	193	1	0	0	0	0	1	0	0	0	4731	893	31	1	71	1	DPP7	9	140005168	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	59159	140005168	1208263	858	106091											
PITRM1	10531	broad.mit.edu	37	chr10	3193501	3193501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatatcggaaactttcaacGctggcagacaagaggcatct	9	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:3193501G>A	uc010qah.1	-	14	1612	c.1580C>T	c.(1579-1581)GCG>GTG	p.A527V	PITRM1_uc001igr.1_Missense_Mutation_p.A559V|PITRM1_uc001igt.1_Missense_Mutation_p.A559V|PITRM1_uc009xhv.1_Missense_Mutation_p.A124V|PITRM1_uc001igu.1_Missense_Mutation_p.A551V|PITRM1_uc010qai.1_Missense_Mutation_p.A530V|PITRM1_uc001igw.1_Missense_Mutation_p.A559V			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	527					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						AACTTTCAACGCTGGCAGACA	0.448													A	3193501	G	A	3193501	3	1	193	1	0	0	0	0	1	0	0	0	11953	1087	38	1	1489	1	PITRM1	10	3193501	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08		3193501	132341246	859	106092											
ITIH5	80760	broad.mit.edu	37	chr10	7621950	7621950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgatgagggacacgctccGgtctccaatgccactgtggg	14	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:7621950G>A	uc001ijq.2	-	9	1265	c.1186C>T	c.(1186-1188)CGG>TGG	p.R396W	ITIH5_uc001ijp.2_Missense_Mutation_p.R182W|ITIH5_uc001ijr.1_Missense_Mutation_p.R396W	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	396	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GACACGCTCCGGTCTCCAATG	0.627													A	7621950	G	A	7621950	3	1	193	1	0	0	0	0	1	0	0	0	7907	1115	39	1	1789	1	ITIH5	10	7621950	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4428449	7621950	127912797	860	106093											
GATA3	2625	broad.mit.edu	37	chr10	8100470	8100470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggggccacgccagcccGcacctcttcaccttcccgcc	10	21	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:8100470G>A	uc001ika.2	+	3	1001	c.444G>A	c.(442-444)CCG>CCA	p.P148P	GATA3_uc001ijz.2_Silent_p.P148P	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	148					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			breast(17)|ovary(3)|central_nervous_system(2)	22						ACGCCAGCCCGCACCTCTTCA	0.731			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8100470	G	A	8100470	2	1	193	1	0	0	0	0	0	0	0	1	6255	1074	38	1		1	GATA3	10	8100470	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	478520	8100470	127434277	861	106094											
OPTN	10133	broad.mit.edu	37	chr10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-													gtgaaagcacaggaaatggaCccccccacctggcccaccca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|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						CAGGAAATGGACCCCCCCACC	0.562													-	13151192	C	-	13151192	7	5	193	1	0	1	0	1	0	0	0	0	10889	507	18	0	72	0	OPTN	10	13151192	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	5050722	13151192	122383555	862	106095											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	193	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	545260	13696452	121838295	863	106096											
CDNF	441549	broad.mit.edu	37	chr10	14867476	14867476	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacacggggctgtgttatAccatatttcagctcacagat	8	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:14867476A>G	uc001inb.1	-	3	423	c.385_splice	c.e3+1	p.E129_splice	CDNF_uc010qbv.1_Intron|CDNF_uc001inc.1_Splice_Site_p.E20_splice	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage							extracellular region	growth factor activity				0						GCTGTGTTATACCATATTTCA	0.423													G	14867476	A	G	14867476	5	3	193	1	0	0	0	0	0	0	1	0	3168	405	14	3	184	3	CDNF	10	14867476	Splice_Site	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1171024	14867476	120667271	864	106097											
MRC1	4360	broad.mit.edu	37	chr10	17865318	17865318	+	Frame_Shift_Del	DEL	A	A	-													aatttcagaaatgggagtgcAaaaatgacacacttttgggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:17865318delA	uc001ipk.2	+	2	410	c.307delA	c.(307-309)AAAfs	p.K103fs		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	103	Extracellular (Potential).|Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0						ATGGGAGTGCAAAAATGACAC	0.388													-	17865318	A	-	17865318	7	5	193	1	0	1	0	1	0	0	0	0	9756	131	5	0	313	0	MRC1	10	17865318	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2997842	17865318	117669429	865	106098											
PLXDC2	84898	broad.mit.edu	37	chr10	20453421	20453421	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttggtcacacagataAgttcaaccaatcatccagtg	7	11	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:20453421A>T	uc001iqg.1	+	7	1445	c.808A>T	c.(808-810)AGT>TGT	p.S270C	PLXDC2_uc001iqh.1_Missense_Mutation_p.S221C|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	270	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CACACAGATAAGTTCAACCAA	0.428													T	20453421	A	T	20453421	3	4	193	1	0	0	0	0	1	0	0	0	12118	72	3	5	834	5	PLXDC2	10	20453421	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2588103	20453421	115081326	866	106099											
NEBL	10529	broad.mit.edu	37	chr10	21117557	21117557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgcttcatctttatActttctctaaaaacataaac	1	11	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:21117557A>G	uc001iqi.2	-	17	2075	c.1678T>C	c.(1678-1680)TAT>CAT	p.Y560H	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	560	Nebulin 15.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TCATCTTTATACTTTCTCTAA	0.269													G	21117557	A	G	21117557	3	3	193	1	0	0	0	0	1	0	0	0	10303	391	14	3	1414	3	NEBL	10	21117557	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	664136	21117557	114417190	867	106100											
PTCHD3	374308	broad.mit.edu	37	chr10	27702960	27702960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgacggccgggggggtgCatcgtccccctctggcaggg	17	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:27702960C>T	uc001itu.2	-	1	338	c.220G>A	c.(220-222)GCA>ACA	p.A74T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	74					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CGGGGGGGTGCATCGTCCCCC	0.716													T	27702960	C	T	27702960	3	4	193	1	0	0	0	0	1	0	0	0	12734	710	25	2	2099	2	PTCHD3	10	27702960	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6585403	27702960	107831787	868	106101											
SVIL	6840	broad.mit.edu	37	chr10	29754537	29754537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttacctggctggggcgcGctgtacagatcttcctgcag	13	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:29754537G>A	uc001iut.1	-	34	6873	c.6120C>T	c.(6118-6120)AGC>AGT	p.S2040S	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.S954S|SVIL_uc001iuu.1_Silent_p.S1614S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2040	Gelsolin-like 5.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GCTGGGGCGCGCTGTACAGAT	0.537													A	29754537	G	A	29754537	2	1	193	1	0	0	0	0	0	0	0	1	15418	1078	38	1		1	SVIL	10	29754537	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2051577	29754537	105780210	869	106102											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					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)				TGCACCACCATCCCCCCCTGG	0.527													-	29760116	C	-	29760116	7	5	193	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	5579	29760116	105774631	870	106103											
HNRNPF	3185	broad.mit.edu	37	chr10	43882582	43882582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggtgaagccgtagccatCactgaggccactgtactcct	12	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:43882582C>T	uc009xmh.1	-	3	1238	c.751G>A	c.(751-753)GAT>AAT	p.D251N	HNRNPF_uc001jar.2_Missense_Mutation_p.D251N|HNRNPF_uc001jas.2_Missense_Mutation_p.D251N|HNRNPF_uc001jat.2_Missense_Mutation_p.D251N|HNRNPF_uc001jav.2_Missense_Mutation_p.D251N|HNRNPF_uc001jau.2_Missense_Mutation_p.D251N|uc010qfa.1_Silent_p.I88I	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	251					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						CCGTAGCCATCACTGAGGCCA	0.577													T	43882582	C	T	43882582	3	4	193	1	0	0	0	0	1	0	0	0	7265	826	29	4	500	4	HNRNPF	10	43882582	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	14122466	43882582	91652165	871	106104											
ZNF239	8187	broad.mit.edu	37	chr10	44052829	44052829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgctcacatttgtagggTttttcttctgtgtggtctct	9	8	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:44052829T>G	uc001jaw.3	-	2	1352	c.699A>C	c.(697-699)AAA>AAC	p.K233N	ZNF239_uc001jax.3_Missense_Mutation_p.K233N|ZNF239_uc009xmj.2_Missense_Mutation_p.K233N|ZNF239_uc009xmk.2_Missense_Mutation_p.K233N	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						ATTTGTAGGGTTTTTCTTCTG	0.453													G	44052829	T	G	44052829	3	3	193	1	0	0	0	0	1	0	0	0	17788	1722	60	5	681	5	ZNF239	10	44052829	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	170247	44052829	91481918	872	106105											
C10orf25	220979	broad.mit.edu	37	chr10	45496243	45496243	+	Frame_Shift_Del	DEL	G	G	-													cacaggacgccttccgagttGgggggaggagaaaacaaaac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:45496243delG	uc001jbv.1	-	1	94	c.65delC	c.(64-66)CCAfs	p.P22fs	C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	hypothetical protein LOC220979 precursor	22						extracellular region					0						CTTCCGAGTTGGGGGGAGGAG	0.587													-	45496243	G	-	45496243	7	5	193	1	0	1	0	1	0	0	0	0	1598	1348	47	0	311	0	C10orf25	10	45496243	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	1443414	45496243	90038504	873	106106											
ANUBL1	93550	broad.mit.edu	37	chr10	46121505	46121505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagagttctgaagcctgCctgccccacgtgtgctctgt	10	14	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:46121505C>T	uc001jcp.3	-	7	2008	c.1766G>A	c.(1765-1767)GGC>GAC	p.G589D	ANUBL1_uc001jcl.3_Missense_Mutation_p.G109D|ANUBL1_uc001jcm.3_Missense_Mutation_p.G589D|ANUBL1_uc009xmu.2_Missense_Mutation_p.G515D|ANUBL1_uc001jcn.3_Missense_Mutation_p.G515D|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	589							zinc ion binding				0						CTGAAGCCTGCCTGCCCCACG	0.463													T	46121505	C	T	46121505	3	4	193	1	0	0	0	0	1	0	0	0	713	739	26	2	433	2	ANUBL1	10	46121505	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	625262	46121505	89413242	874	106107											
ERCC6	2074	broad.mit.edu	37	chr10	50678501	50678501	+	Frame_Shift_Del	DEL	A	A	-													ttccatttgtttattctcccAaaaagcttctgtttgagcct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:50678500_50678500CA>C	uc001jhs.4	-	17	3660	c.3506_3506TG>G	c.(3505-3507)tggfs	p.W1169fs	ERCC6_uc009xod.3_Frame_Shift_Del_p.W329fs|ERCC6_uc010qgr.2_Frame_Shift_Del_p.W539fs|ERCC6_uc001jhr.4_Frame_Shift_Del_p.W537fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1169					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|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex 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						TTTATTCTCCCAAAAAGCTTC	0.378								Direct reversal of damage;Nucleotide excision repair (NER)					-	50678501	A	-	50678501	7	5	193	1	0	1	0	1	0	0	0	0	5217	130	5	0	992	0	ERCC6	10	50678501	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	4556996	50678501	84856246	875	106108											
DKK1	22943	broad.mit.edu	37	chr10	54074209	54074209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagatgatggctctgggCgcagcgggagctacccgggt	17	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:54074209C>T	uc001jjr.2	+	1	169	c.15C>T	c.(13-15)GGC>GGT	p.G5G	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	5					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TGGCTCTGGGCGCAGCGGGAG	0.602											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	54074209	C	T	54074209	2	4	193	1	0	0	0	0	0	0	0	1	4544	755	27	1		1	DKK1	10	54074209	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3395708	54074209	81460538	876	106109											
ZWINT	11130	broad.mit.edu	37	chr10	58119262	58119262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgccactggttctggActgctctgcgtttctccatg	11	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:58119262A>G	uc001jjx.1	-	5	492	c.455T>C	c.(454-456)GTC>GCC	p.V152A	ZWINT_uc001jjy.1_Missense_Mutation_p.V152A|ZWINT_uc001jka.1_Missense_Mutation_p.V152A|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	152	Interaction with NDC80 and ZW10.|Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						CTGGTTCTGGACTGCTCTGCG	0.478													G	58119262	A	G	58119262	3	3	193	1	0	0	0	0	1	0	0	0	18246	275	10	3	394	3	ZWINT	10	58119262	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	4045053	58119262	77415485	877	106110											
ANK3	288	broad.mit.edu	37	chr10	61833637	61833637	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcttggttacctttttcGatgtggacttctattatacg	8	8	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:61833637G>A	uc001jky.2	-	37	7194	c.7002C>T	c.(7000-7002)ATC>ATT	p.I2334I	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2334					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TACCTTTTTCGATGTGGACTT	0.428													A	61833637	G	A	61833637	2	1	193	1	0	0	0	0	0	0	0	1	622	1048	37	1		1	ANK3	10	61833637	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3714375	61833637	73701110	878	106111											
ANK3	288	broad.mit.edu	37	chr10	61835708	61835708	+	Frame_Shift_Del	DEL	G	G	-													tgtttgatttgggggaggcaGggggtgtcatagtaattgat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:61835708delG	uc001jky.2	-	37	5123	c.4931delC	c.(4930-4932)CCTfs	p.P1644fs	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1644	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GGGGGAGGCAGGGGGTGTCAT	0.418													-	61835708	G	-	61835708	7	5	193	1	0	1	0	1	0	0	0	0	622	1000	35	0	8543	0	ANK3	10	61835708	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	2071	61835708	73699039	879	106112											
JMJD1C	221037	broad.mit.edu	37	chr10	64936152	64936152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcaagcagcctttgacGgagctttttgttcacatacc	7	11	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:64936152G>A	uc001jmn.2	-	24	7606	c.7306C>T	c.(7306-7308)CGT>TGT	p.R2436C	JMJD1C_uc001jml.2_Missense_Mutation_p.R2199C|JMJD1C_uc001jmm.2_Missense_Mutation_p.R2148C|JMJD1C_uc010qiq.1_Missense_Mutation_p.R2254C|JMJD1C_uc009xpi.2_Missense_Mutation_p.R2254C|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_RNA	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2436	JmjC.				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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCCTTTGACGGAGCTTTTTG	0.393													A	64936152	G	A	64936152	3	1	193	1	0	0	0	0	1	0	0	0	7950	1116	39	1	328	1	JMJD1C	10	64936152	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3100444	64936152	70598595	880	106113											
JMJD1C	221037	broad.mit.edu	37	chr10	64958334	64958334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actaattgacagaacttatcAcctattatatccaagatata	3	8	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:64958334A>G	uc001jmn.2	-	12	5730	c.5430T>C	c.(5428-5430)GGT>GGC	p.G1810G	JMJD1C_uc001jml.2_Silent_p.G1591G|JMJD1C_uc001jmm.2_Silent_p.G1522G|JMJD1C_uc010qiq.1_Silent_p.G1628G|JMJD1C_uc009xpi.2_Silent_p.G1628G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1810					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGAACTTATCACCTATTATAT	0.313													G	64958334	A	G	64958334	2	3	193	1	0	0	0	0	0	0	0	1	7950	146	6	3		3	JMJD1C	10	64958334	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	22182	64958334	70576413	881	106114											
HERC4	26091	broad.mit.edu	37	chr10	69792621	69792621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtaaattaggaacatAcctatctgaaaattccaaca	4	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:69792621A>G	uc001jng.3	-	7	1002	c.691T>C	c.(691-693)TAT>CAT	p.Y231H	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.Y231H|HERC4_uc009xpr.2_Missense_Mutation_p.Y231H|HERC4_uc001jni.3_Intron|HERC4_uc001jnj.2_Missense_Mutation_p.Y231H	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	231	RCC1 5.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TTAGGAACATACCTATCTGAA	0.323													G	69792621	A	G	69792621	3	3	193	1	0	0	0	0	1	0	0	0	7060	391	14	3	2562	3	HERC4	10	69792621	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	4834287	69792621	65742126	882	106115											
HK1	3098	broad.mit.edu	37	chr10	71144668	71144668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcagacgagtctggaCgcggtgagtctctgttctta	13	10	3	2	rs143834023		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:71144668C>T	uc001jpl.3	+	12	1937	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	HK1_uc001jpg.3_Silent_p.D600D|HK1_uc001jph.3_Silent_p.D616D|HK1_uc001jpi.3_Silent_p.D616D|HK1_uc001jpj.3_Silent_p.D647D|HK1_uc001jpk.3_Silent_p.D611D|HK1_uc009xqd.2_Silent_p.D490D	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	612	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						CGAGTCTGGACGCGGTGAGTC	0.592													T	71144668	C	T	71144668	2	4	193	1	0	0	0	0	0	0	0	1	7190	535	19	1		1	HK1	10	71144668	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1352047	71144668	64390079	883	106116											
H2AFY2	55506	broad.mit.edu	37	chr10	71868937	71868937	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaagaagctaaagtccgtCgcgttcccgcctttccccag	9	15	0	1	rs116103919	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:71868937C>A	uc001jqm.2	+	8	1386	c.927C>A	c.(925-927)GTC>GTA	p.V309V	H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	309	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TAAAGTCCGTCGCGTTCCCGC	0.547													A	71868937	C	A	71868937	2	1	193	1	0	0	0	0	0	0	0	1	6930	871	31	5		5	H2AFY2	10	71868937	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	724269	71868937	63665810	884	106117											
CHST3	9469	broad.mit.edu	37	chr10	73767332	73767332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccggggggcgccaacgcCgcgggctcggccctggtgta	19	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:73767332C>T	uc001jsn.2	+	3	983	c.543C>T	c.(541-543)GCC>GCT	p.A181A		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	181	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						GCGCCAACGCCGCGGGCTCGG	0.652													T	73767332	C	T	73767332	2	4	193	1	0	0	0	0	0	0	0	1	3405	639	23	1		1	CHST3	10	73767332	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1898395	73767332	61767415	885	106118											
TTC18	118491	broad.mit.edu	37	chr10	75113422	75113422	+	Frame_Shift_Del	DEL	T	T	-													tccttctggagaaacagtaaTttttgcagagtctcccagaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75113421_75113421AT>A	uc009xrc.3	-	2	264	c.143_143AT>T	c.(142-144)attfs	p.I48fs	TTC18_uc001jty.3_Frame_Shift_Del_p.I48fs|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	48							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)					AGAAACAGTAATTTTTGCAGA	0.408													-	75113422	T	-	75113422	7	5	193	1	0	1	0	1	0	0	0	0	16682	1493	52	0	3327	0	TTC18	10	75113422	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1346090	75113422	60421325	886	106119											
SEC24C	9632	broad.mit.edu	37	chr10	75530210	75530210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcgtctcctccttcaGtcagatcaccagtggtttgg	9	12	5	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75530210G>A	uc001juw.2	+	22	3214	c.3035G>A	c.(3034-3036)AGT>AAT	p.S1012N	SEC24C_uc001jux.2_Missense_Mutation_p.S1012N|SEC24C_uc010qko.1_Missense_Mutation_p.S893N|SEC24C_uc010qkp.1_Missense_Mutation_p.S260N|SEC24C_uc010qkq.1_Missense_Mutation_p.S260N|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	1012					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			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					TCCTCCTTCAGTCAGATCACC	0.483													A	75530210	G	A	75530210	3	1	193	1	0	0	0	0	1	0	0	0	13996	1029	36	4	3113	4	SEC24C	10	75530210	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	416788	75530210	60004537	887	106120											
KIAA0913	23053	broad.mit.edu	37	chr10	75560431	75560431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgctgggtcgccgggCacacaacgatcaccccaaca	12	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75560431C>T	uc009xrl.2	+	24	5077	c.5045C>T	c.(5044-5046)GCA>GTA	p.A1682V	KIAA0913_uc001jve.2_Missense_Mutation_p.A1687V|KIAA0913_uc001jvf.2_Missense_Mutation_p.A1500V|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A1109V|KIAA0913_uc010qkr.1_Missense_Mutation_p.A1097V|KIAA0913_uc001jvj.2_Missense_Mutation_p.A1097V|KIAA0913_uc009xrn.1_Missense_Mutation_p.A93V	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1682							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGTCGCCGGGCACACAACGAT	0.572													T	75560431	C	T	75560431	3	4	193	1	0	0	0	0	1	0	0	0	8200	710	25	2	5154	2	KIAA0913	10	75560431	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	30221	75560431	59974316	888	106121											
VCL	7414	broad.mit.edu	37	chr10	75834640	75834640	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaactcacctcttgggaTgaagatgcctgggccagcaa	10	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:75834640T>C	uc001jwd.2	+	6	856	c.762T>C	c.(760-762)GAT>GAC	p.D254D	VCL_uc009xrr.2_5'UTR|VCL_uc010qky.1_Silent_p.D161D|VCL_uc001jwe.2_Silent_p.D254D|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	254	N-terminal globular head.				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)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					CCTCTTGGGATGAAGATGCCT	0.423													C	75834640	T	C	75834640	2	2	193	1	0	0	0	0	0	0	0	1	17136	1461	51	3		3	VCL	10	75834640	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	274209	75834640	59700107	889	106122											
MYST4	23522	broad.mit.edu	37	chr10	76790391	76790391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctctgtcaccagccgctGccacccatcagtcacaaatc	6	18	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:76790391G>A	uc001jwn.1	+	18	6302	c.5809G>A	c.(5809-5811)GCC>ACC	p.A1937T	MYST4_uc001jwo.1_Missense_Mutation_p.A1645T|MYST4_uc001jwp.1_Missense_Mutation_p.A1754T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1937	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					ACCAGCCGCTGCCACCCATCA	0.522			T	CREBBP	AML								A	76790391	G	A	76790391	3	1	193	1	0	0	0	0	1	0	0	0	10105	1319	46	2	5871	2	MYST4	10	76790391	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	955751	76790391	58744356	890	106123											
KCNMA1	3778	broad.mit.edu	37	chr10	78669765	78669765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacactgacggcaaatgctgTcccacaggcaaagggctgcg	13	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:78669765T>C	uc001jxn.2	-	25	3283	c.3106A>G	c.(3106-3108)ACA>GCA	p.T1036A	KCNMA1_uc001jxj.2_Missense_Mutation_p.T982A|KCNMA1_uc001jxk.1_Missense_Mutation_p.T654A|KCNMA1_uc009xrt.1_Missense_Mutation_p.T827A|KCNMA1_uc001jxl.1_Missense_Mutation_p.T661A|KCNMA1_uc001jxo.2_Missense_Mutation_p.T1019A|KCNMA1_uc001jxm.2_Missense_Mutation_p.T978A|KCNMA1_uc001jxq.2_Missense_Mutation_p.T1008A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1036	Segment S10.|Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	GCAAATGCTGTCCCACAGGCA	0.483													C	78669765	T	C	78669765	3	2	193	1	0	0	0	0	1	0	0	0	8073	1667	58	3	649	3	KCNMA1	10	78669765	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1879374	78669765	56864982	891	106124											
DLG5	9231	broad.mit.edu	37	chr10	79567608	79567608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgtgaactcctcagggCggtactgcaccttcaggcgg	12	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:79567608C>T	uc001jzk.2	-	25	4812	c.4742G>A	c.(4741-4743)CGC>CAC	p.R1581H	DLG5_uc001jzi.2_Missense_Mutation_p.R336H|DLG5_uc001jzj.2_Missense_Mutation_p.R996H|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1581	PDZ 4.				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			ovary(5)|breast(3)	8	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)			CTCCTCAGGGCGGTACTGCAC	0.587													T	79567608	C	T	79567608	3	4	193	1	0	0	0	0	1	0	0	0	4558	768	27	1	1049	1	DLG5	10	79567608	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	897843	79567608	55967139	892	106125											
POLR3A	11128	broad.mit.edu	37	chr10	79745713	79745713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttctacttgggtgggggTgatgcggtccagctggtaca	15	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:79745713T>C	uc001jzn.2	-	23	3113	c.3019A>G	c.(3019-3021)ACC>GCC	p.T1007A		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1007					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				0	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)			TGGGTGGGGGTGATGCGGTCC	0.542													C	79745713	T	C	79745713	3	2	193	1	0	0	0	0	1	0	0	0	12228	1696	59	3	1189	3	POLR3A	10	79745713	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	178105	79745713	55789034	893	106126											
LRIT2	340745	broad.mit.edu	37	chr10	85984521	85984521	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggataggtcaaggtaggTcaggctgaccaagaattgaa	15	5	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:85984521T>A	uc001kcy.2	-	2	468	c.460A>T	c.(460-462)ACC>TCC	p.T154S	LRIT2_uc010qmc.1_Missense_Mutation_p.T154S	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	154	LRR 4.					integral to membrane				ovary(2)	2						TCAAGGTAGGTCAGGCTGACC	0.542													A	85984521	T	A	85984521	3	1	193	1	0	0	0	0	1	0	0	0	8948	1667	58	5	1200	5	LRIT2	10	85984521	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	6238808	85984521	49550226	894	106127											
WAPAL	23063	broad.mit.edu	37	chr10	88211855	88211855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgccgattccgagcacTatactccactagatttatca	6	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:88211855T>C	uc001kdo.2	-	15	3425	c.2983A>G	c.(2983-2985)AGT>GGT	p.S995G	WAPAL_uc009xsv.2_Intron|WAPAL_uc001kdn.2_Missense_Mutation_p.S1032G|WAPAL_uc009xsw.2_Missense_Mutation_p.S989G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	995	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			ovary(1)	1						TTCCGAGCACTATACTCCACT	0.383													C	88211855	T	C	88211855	3	2	193	1	0	0	0	0	1	0	0	0	17245	1522	53	3	609	3	WAPAL	10	88211855	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2227334	88211855	47322892	895	106128											
GLUD1	2746	broad.mit.edu	37	chr10	88820771	88820771	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttagcaccaaaacgatgTaaatatctcatagagtgtag	7	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:88820771T>C	uc001keh.2	-	7	1057	c.960A>G	c.(958-960)TTA>TTG	p.L320L	GLUD1_uc001keg.2_Silent_p.L153L|GLUD1_uc010qmp.1_Silent_p.L187L	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	320					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				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAAAACGATGTAAATATCTCA	0.393													C	88820771	T	C	88820771	2	2	193	1	0	0	0	0	0	0	0	1	6476	1635	57	3		3	GLUD1	10	88820771	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	608916	88820771	46713976	896	106129											
ACTA2	59	broad.mit.edu	37	chr10	90701123	90701123	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggggacattgtgggtgacaCcatctccagagtccagcacg	13	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:90701123C>G	uc001kfp.2	-	6	595	c.479G>C	c.(478-480)GGT>GCT	p.G160A	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.G115A|ACTA2_uc001kfq.2_Missense_Mutation_p.G160A	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	160					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GTGGGTGACACCATCTCCAGA	0.552													G	90701123	C	G	90701123	3	3	193	1	0	0	0	0	1	0	0	0	192	507	18	5	670	5	ACTA2	10	90701123	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1880352	90701123	44833624	897	106130											
IDE	3416	broad.mit.edu	37	chr10	94297296	94297296	+	Frame_Shift_Del	DEL	T	T	-													tattcattttgctgtaagtcTttttttggaaactgaaaaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:94297295_94297295CT>C	uc001kia.3	-	1	187	c.111_111AG>G	c.(109-111)aagfs	p.K37fs		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	37					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)	TGCTGTAAGTCTTTTTTTGGA	0.343													-	94297296	T	-	94297296	7	5	193	1	0	1	0	1	0	0	0	0	7493	1609	56	0	3045	0	IDE	10	94297296	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	3596173	94297296	41237451	898	106131											
MYOF	26509	broad.mit.edu	37	chr10	95079635	95079635	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttcagagctcacttttttCgcaacgatacagagttgttc	7	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:95079635C>T	uc001kin.2	-	49	5715	c.5592G>A	c.(5590-5592)GCG>GCA	p.A1864A	MYOF_uc001kio.2_Silent_p.A1851A|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1864	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TCACTTTTTTCGCAACGATAC	0.348													T	95079635	C	T	95079635	2	4	193	1	0	0	0	0	0	0	0	1	10089	871	31	1		1	MYOF	10	95079635	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	782339	95079635	40455112	899	106132											
GPR120	338557	broad.mit.edu	37	chr10	95347331	95347331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattttaacagacacatctGtcaaaagaaatgacttgtcg	6	9	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:95347331G>A	uc010qnt.1	+	4	1155	c.1099G>A	c.(1099-1101)GTC>ATC	p.V367I	GPR120_uc010qnu.1_Missense_Mutation_p.V351I	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	367	Cytoplasmic (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				AGACACATCTGTCAAAAGAAA	0.413													A	95347331	G	A	95347331	3	1	193	1	0	0	0	0	1	0	0	0	6636	1377	48	4	1113	4	GPR120	10	95347331	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	267696	95347331	40187416	900	106133											
BLNK	29760	broad.mit.edu	37	chr10	97975104	97975104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcctggaggagaggcggGcgttgaggaatttggcttgg	19	5	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:97975104G>A	uc001kls.3	-	8	827	c.649C>T	c.(649-651)CCC>TCC	p.P217S	BLNK_uc001kme.3_Intron|BLNK_uc001klt.3_Intron|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Missense_Mutation_p.P135S|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Intron|BLNK_uc001kly.3_Missense_Mutation_p.P217S|BLNK_uc001klz.3_Intron|BLNK_uc001kma.3_Intron|BLNK_uc001kmb.3_Missense_Mutation_p.P13S|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.P135S|BLNK_uc009xvd.2_Intron	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	217	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			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GGAGAGGCGGGCGTTGAGGAA	0.353													A	97975104	G	A	97975104	3	1	193	1	0	0	0	0	1	0	0	0	1447	1203	42	2	761	2	BLNK	10	97975104	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2627773	97975104	37559643	901	106134											
C10orf12	26148	broad.mit.edu	37	chr10	98743674	98743674	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagagatttggaaaagcaagAaaaggtcacggaaatgtagg	13	3	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:98743674A>T	uc001kmv.2	+	1	2634	c.2527A>T	c.(2527-2529)AAA>TAA	p.K843*		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	843										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAAAGCAAGAAAAGGTCACG	0.388													T	98743674	A	T	98743674	4	4	193	1	0	0	0	0	0	1	0	0	1589	247	9	5	2529	5	C10orf12	10	98743674	Nonsense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	768570	98743674	36791073	902	106135											
C10orf12	26148	broad.mit.edu	37	chr10	98744692	98744692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgcctcggaaacactgaCgaaacctgcaaaacagaagg	9	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:98744692C>T	uc001kmv.2	+	1	3652	c.3545C>T	c.(3544-3546)ACG>ATG	p.T1182M		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	1182										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAACACTGACGAAACCTGCA	0.512													T	98744692	C	T	98744692	3	4	193	1	0	0	0	0	1	0	0	0	1589	536	19	1	3547	1	C10orf12	10	98744692	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1018	98744692	36790055	903	106136											
PI4K2A	55361	broad.mit.edu	37	chr10	99416705	99416705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgagcggttggtggTgctggattacatcatccgca	13	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:99416705T>C	uc001kog.1	+	4	953	c.896T>C	c.(895-897)GTG>GCG	p.V299A	PI4K2A_uc010qoy.1_Missense_Mutation_p.V269A|PI4K2A_uc009xvw.1_Missense_Mutation_p.C31R	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	299	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGGTTGGTGGTGCTGGATTAC	0.562													C	99416705	T	C	99416705	3	2	193	1	0	0	0	0	1	0	0	0	11871	1696	59	3	910	3	PI4K2A	10	99416705	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	672013	99416705	36118042	904	106137											
ENTPD7	57089	broad.mit.edu	37	chr10	101439083	101439085	+	In_Frame_Del	DEL	TTG	TTG	-													cccaaatctgaattatggacTtgttgttgactgtggcagca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:101439083_101439085delTTG	uc001kqa.3	+	4	435_437	c.257_259delTTG	c.(256-261)CTTGTT>CTT	p.V88del	ENTPD7_uc009xwl.2_In_Frame_Del_p.V90del	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	88	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AATTATGGACTTGTTGTTGACTG	0.448													-	101439085	TTG	-	101439083	7	5	193	1	0	1	0	1	0	0	0	0	5144	1609	56	0	267	0	ENTPD7	10	101439083	In_Frame_Del	DEL	TTG	TCGA-CG-5726-01A-11D-1600-08	2022378	101439083	34095664	905	106138											
CWF19L1	55280	broad.mit.edu	37	chr10	102016075	102016075	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggggatgtgagcaagatatCaacacccttaaactgggagg	13	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:102016075C>T	uc001kqq.1	-	5	535	c.448G>A	c.(448-450)GAT>AAT	p.D150N	CWF19L1_uc001kqs.1_Intron|CWF19L1_uc001kqr.1_Missense_Mutation_p.D150N|CWF19L1_uc001kqt.1_Intron|CWF19L1_uc010qpn.1_Missense_Mutation_p.D13N	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	150							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AGCAAGATATCAACACCCTTA	0.418													T	102016075	C	T	102016075	3	4	193	1	0	0	0	0	1	0	0	0	4071	826	29	4	1208	4	CWF19L1	10	102016075	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	576992	102016075	33518672	906	106139											
FAM178A	55719	broad.mit.edu	37	chr10	102676537	102676537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggtatacatgagtcacGtcggccttgtctgtcactag	10	10	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:102676537G>A	uc001krt.3	+	3	937	c.395G>A	c.(394-396)CGT>CAT	p.R132H	FAM178A_uc001krr.1_Missense_Mutation_p.R132H|FAM178A_uc001krs.2_Missense_Mutation_p.R132H|FAM178A_uc001kru.1_Missense_Mutation_p.R68H	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	132											0						CATGAGTCACGTCGGCCTTGT	0.408													A	102676537	G	A	102676537	3	1	193	1	0	0	0	0	1	0	0	0	5503	1145	40	1	405	1	FAM178A	10	102676537	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	660462	102676537	32858210	907	106140											
BTRC	8945	broad.mit.edu	37	chr10	103221770	103221770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagactgtaataatggCgaaccccctaggaagataat	10	7	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:103221770C>T	uc001kta.2	+	3	302	c.189C>T	c.(187-189)GGC>GGT	p.G63G	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Silent_p.G27G|BTRC_uc001ktc.2_Intron	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	63					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GTAATAATGGCGAACCCCCTA	0.353													T	103221770	C	T	103221770	2	4	193	1	0	0	0	0	0	0	0	1	1569	755	27	1		1	BTRC	10	103221770	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	545233	103221770	32312977	908	106141											
DPCD	25911	broad.mit.edu	37	chr10	103354447	103354447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactatttattcccagacGgcaaggaaatggctgaagaa	9	8	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:103354447G>A	uc001ktn.2	+	2	102	c.97G>A	c.(97-99)GGC>AGC	p.G33S		NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	33							protein binding			skin(1)	1						ATTCCCAGACGGCAAGGAAAT	0.483													A	103354447	G	A	103354447	3	1	193	1	0	0	0	0	1	0	0	0	4711	1116	39	1	103	1	DPCD	10	103354447	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	132677	103354447	32180300	909	106142											
MGEA5	10724	broad.mit.edu	37	chr10	103558790	103558790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttttcatttggacctgGcacaaactgctccttgtttg	9	10	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:103558790G>A	uc001ktv.2	-	9	2061	c.1618C>T	c.(1618-1620)CCA>TCA	p.P540S	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.P487S|MGEA5_uc009xws.2_Missense_Mutation_p.P487S|MGEA5_uc001ktw.2_Missense_Mutation_p.P540S|MGEA5_uc009xwt.2_Missense_Mutation_p.P303S	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	540					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTTGGACCTGGCACAAACTGC	0.458													A	103558790	G	A	103558790	3	1	193	1	0	0	0	0	1	0	0	0	9555	1203	42	2	1164	2	MGEA5	10	103558790	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	204343	103558790	31975957	910	106143											
NFKB2	4791	broad.mit.edu	37	chr10	104158163	104158163	+	Frame_Shift_Del	DEL	C	C	-													atgccattgtgttccggacaCccccctatcacaagatgaag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104158162_104158162AC>A	uc001kvb.3	+	10	1138	c.873_873AC>A	c.(871-873)acafs	p.T291fs	NFKB2_uc001kva.3_Frame_Shift_Del_p.T291fs|NFKB2_uc010qqk.1_Frame_Shift_Del_p.T291fs|NFKB2_uc001kvd.3_Frame_Shift_Del_p.T291fs|NFKB2_uc009xxc.3_Frame_Shift_Del_p.T291fs	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	291	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|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)		TGTTCCGGACACCCCCCTATC	0.572			T	IGH@	B-NHL								-	104158163	C	-	104158163	7	5	193	1	0	1	0	1	0	0	0	0	10376	507	18	0	912	0	NFKB2	10	104158163	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	599373	104158163	31376584	911	106144											
PSD	5662	broad.mit.edu	37	chr10	104164452	104164452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcggctactacattgatgCgagtgatccaggactgcatc	11	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104164452C>T	uc001kvg.1	-	15	3115	c.2588G>A	c.(2587-2589)CGC>CAC	p.R863H	PSD_uc001kve.1_Missense_Mutation_p.R71H|PSD_uc001kvf.1_Missense_Mutation_p.R232H|PSD_uc001kvh.1_Missense_Mutation_p.R484H|PSD_uc009xxd.1_Missense_Mutation_p.R863H	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	863	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TACATTGATGCGAGTGATCCA	0.612													T	104164452	C	T	104164452	3	4	193	1	0	0	0	0	1	0	0	0	12646	768	27	1	498	1	PSD	10	104164452	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6289	104164452	31370295	912	106145											
TRIM8	81603	broad.mit.edu	37	chr10	104414974	104414974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgagaacgcagcgcaGgcgctgcacctcggggagcg	17	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104414974G>A	uc001kvz.2	+	3	927	c.804G>A	c.(802-804)CAG>CAA	p.Q268Q		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	268						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACGCAGCGCAGGCGCTGCACC	0.617													A	104414974	G	A	104414974	2	1	193	1	0	0	0	0	0	0	0	1	16545	991	35	4		4	TRIM8	10	104414974	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	250522	104414974	31119773	913	106146											
SFXN2	118980	broad.mit.edu	37	chr10	104491919	104491919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctcagagagctgcggCcataggcatcacccaagtag	11	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:104491919C>T	uc001kwb.2	+	8	831	c.665C>T	c.(664-666)GCC>GTC	p.A222V	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	222					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGAGCTGCGGCCATAGGCATC	0.522													T	104491919	C	T	104491919	3	4	193	1	0	0	0	0	1	0	0	0	14195	739	26	2	691	2	SFXN2	10	104491919	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	76945	104491919	31042828	914	106147											
PDCD11	22984	broad.mit.edu	37	chr10	105172931	105172931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgtgcacctgagcctgcGccccatcttcctacagcctg	9	16	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:105172931G>A	uc001kwy.1	+	9	1124	c.1037G>A	c.(1036-1038)CGC>CAC	p.R346H		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	346	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		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)		CTGAGCCTGCGCCCCATCTTC	0.567													A	105172931	G	A	105172931	3	1	193	1	0	0	0	0	1	0	0	0	11617	1087	38	1	1067	1	PDCD11	10	105172931	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	681012	105172931	30361816	915	106148											
CALHM1	255022	broad.mit.edu	37	chr10	105215352	105215352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaggctttggcgtgctcCgtgcacgtctcgtcgaagag	14	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:105215352C>T	uc001kxe.2	-	2	848	c.708G>A	c.(706-708)ACG>ACA	p.T236T	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	236						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1						TGGCGTGCTCCGTGCACGTCT	0.607													T	105215352	C	T	105215352	2	4	193	1	0	0	0	0	0	0	0	1	2582	639	23	1		1	CALHM1	10	105215352	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	42421	105215352	30319395	916	106149											
SLK	9748	broad.mit.edu	37	chr10	105727517	105727517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaatgtccttcttcaAtttccgtaagatcttcaagt	6	8	4	1	rs150455513		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:105727517A>T	uc001kxo.1	+	1	48	c.14A>T	c.(13-15)AAT>ATT	p.N5I	SLK_uc001kxp.1_Missense_Mutation_p.N5I	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	5				N -> S (in Ref. 3; BAA13195).	apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCTTCTTCAATTTCCGTAAG	0.408													T	105727517	A	T	105727517	3	4	193	1	0	0	0	0	1	0	0	0	14748	101	4	5	16	5	SLK	10	105727517	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	512165	105727517	29807230	917	106150											
SORCS3	22986	broad.mit.edu	37	chr10	106865213	106865213	+	Frame_Shift_Del	DEL	T	T	-													gagacaactagaagtgggccTtttgcccgctccattgacat					rs138506167		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:106865212_106865212CT>C	uc001kyi.1	+	6	1378	c.1151_1151CT>C	c.(1150-1152)cctfs	p.P384fs		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	384						integral to membrane	neuropeptide receptor activity	p.P384L(2)|p.G383W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTGGGCCTTTTGCCCGC	0.473													-	106865213	T	-	106865213	7	5	193	1	0	1	0	1	0	0	0	0	14932	1596	56	0	1178	0	SORCS3	10	106865213	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1137696	106865213	28669534	918	106151											
CASP7	840	broad.mit.edu	37	chr10	115481532	115481532	+	Frame_Shift_Del	DEL	A	A	-													ccaagatgcaagatctgcttAaaaaaggtgagtgctgccag					rs72431166		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:115481532delA	uc001lan.2	+	4	544	c.370delA	c.(370-372)AAAfs	p.K124fs	CASP7_uc001lam.2_Frame_Shift_Del_p.K124fs|CASP7_uc001lao.2_Frame_Shift_Del_p.K157fs|CASP7_uc001lap.2_Frame_Shift_Del_p.K124fs|CASP7_uc001laq.2_Frame_Shift_Del_p.K124fs|CASP7_uc010qsa.1_Frame_Shift_Del_p.K209fs|CASP7_uc010qsb.1_Frame_Shift_Del_p.K99fs	NM_033339	NP_203125	P55210	CASP7_HUMAN	caspase 7 isoform alpha	124					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			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGATCTGCTTAAAAAAGGTGA	0.269													-	115481532	A	-	115481532	7	5	193	1	0	1	0	1	0	0	0	0	2676	363	13	0	483	0	CASP7	10	115481532	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	8616319	115481532	20053215	919	106152											
C10orf118	55088	broad.mit.edu	37	chr10	115917415	115917415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctacgaagagctcctgAtgcttcttattttctttaat	6	8	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:115917415A>G	uc001lbb.1	-	3	1309	c.657T>C	c.(655-657)CAT>CAC	p.H219H	C10orf118_uc001lbc.1_Silent_p.H219H|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	219	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AGAGCTCCTGATGCTTCTTAT	0.274													G	115917415	A	G	115917415	2	3	193	1	0	0	0	0	0	0	0	1	1587	330	12	3		3	C10orf118	10	115917415	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	435883	115917415	19617332	920	106153											
AFAP1L2	84632	broad.mit.edu	37	chr10	116057097	116057097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagctccaggtccacgCgcctgctctcctcgccccgg	11	19	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:116057097C>T	uc001lbn.2	-	17	2490	c.2189G>A	c.(2188-2190)CGC>CAC	p.R730H	AFAP1L2_uc001lbo.2_Missense_Mutation_p.R730H|AFAP1L2_uc010qse.1_Missense_Mutation_p.R783H|AFAP1L2_uc001lbp.2_Missense_Mutation_p.R758H|AFAP1L2_uc001lbm.2_Missense_Mutation_p.R169H|AFAP1L2_uc010qsd.1_Missense_Mutation_p.R296H|AFAP1L2_uc001lbq.1_Missense_Mutation_p.R252H	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	730	Potential.				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			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGGTCCACGCGCCTGCTCTC	0.597													T	116057097	C	T	116057097	3	4	193	1	0	0	0	0	1	0	0	0	355	768	27	1	279	1	AFAP1L2	10	116057097	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	139682	116057097	19477650	921	106154											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118196370	118196370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactatacacaatcccaatgCctatcaggtaagctaacttg	5	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:118196370C>T	uc001lcl.3	+	2	298	c.197C>T	c.(196-198)GCC>GTC	p.A66V		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	66					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		AATCCCAATGCCTATCAGGTA	0.403													T	118196370	C	T	118196370	3	4	193	1	0	0	0	0	1	0	0	0	12152	739	26	2	203	2	PNLIPRP3	10	118196370	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2139273	118196370	17338377	922	106155											
VAX1	11023	broad.mit.edu	37	chr10	118897523	118897523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacccgggcagcctcggcGtccgagtggcatcgaacgtc	15	14	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:118897523G>A	uc009xyx.2	-	1	290	c.45C>T	c.(43-45)GAC>GAT	p.D15D	VAX1_uc001ldb.1_Silent_p.D15D	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	15						nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		CAGCCTCGGCGTCCGAGTGGC	0.483													A	118897523	G	A	118897523	2	1	193	1	0	0	0	0	0	0	0	1	17131	1136	40	1		1	VAX1	10	118897523	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	701153	118897523	16637224	923	106156											
KCNK18	338567	broad.mit.edu	37	chr10	118969177	118969177	+	Frame_Shift_Del	DEL	C	C	-													aaattccctttctttacccgCcccctcctctccaagtggtg					rs139101102		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:118969176_118969176GC>G	uc010qsr.2	+	2	521	c.521_521GC>G	c.(520-522)cgcfs	p.R174fs		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	174						integral to membrane|plasma membrane		p.R174H(4)		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)		TTCTTTACCCGCCCCCTCCTC	0.507													-	118969177	C	-	118969177	7	5	193	1	0	1	0	1	0	0	0	0	8065	726	26	0	532	0	KCNK18	10	118969177	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	71654	118969177	16565570	924	106157											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119805596	119805596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaccacttttgccttttgGcttcagatctttggcttgga	10	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:119805596G>A	uc001ldj.1	-	1	519	c.79C>T	c.(79-81)CCA>TCA	p.P27S	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.P27S|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	27	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGCCTTTTGGCTTCAGATCT	0.498													A	119805596	G	A	119805596	3	1	193	1	0	0	0	0	1	0	0	0	12894	1203	42	2	1479	2	RAB11FIP2	10	119805596	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	836419	119805596	15729151	925	106158											
PRLHR	2834	broad.mit.edu	37	chr10	120354266	120354266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgcctcagcgggtgcAccagcacgacgtagcggtcc	14	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:120354266A>G	uc001ldp.1	-	2	630	c.491T>C	c.(490-492)GTG>GCG	p.V164A		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	164	Cytoplasmic (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CAGCGGGTGCACCAGCACGAC	0.697													G	120354266	A	G	120354266	3	3	193	1	0	0	0	0	1	0	0	0	12530	159	6	3	625	3	PRLHR	10	120354266	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	548670	120354266	15180481	926	106159											
TACC2	10579	broad.mit.edu	37	chr10	123847469	123847469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccagaagagctccacacTgacaggtacttaaatgaaaa	8	10	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:123847469T>C	uc001lfv.2	+	4	5814	c.5454T>C	c.(5452-5454)ACT>ACC	p.T1818T	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.T1818T|TACC2_uc010qtv.1_Silent_p.T1818T	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1818						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCTCCACACTGACAGGTACT	0.502													C	123847469	T	C	123847469	2	2	193	1	0	0	0	0	0	0	0	1	15499	1567	55	3		3	TACC2	10	123847469	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3493203	123847469	11687278	927	106160											
IKZF5	64376	broad.mit.edu	37	chr10	124754231	124754231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaagatgacatcgatgagGtttttcacctgtttcaaaag	8	7	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:124754231G>T	uc001lha.2	-	5	624	c.325C>A	c.(325-327)CCT>ACT	p.P109T	IKZF5_uc001lgz.2_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CATCGATGAGGTTTTTCACCT	0.368													T	124754231	G	T	124754231	3	4	193	1	0	0	0	0	1	0	0	0	7618	1261	44	5	938	5	IKZF5	10	124754231	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	906762	124754231	10780516	928	106161											
CHST15	51363	broad.mit.edu	37	chr10	125805497	125805498	+	Frame_Shift_Ins	INS	-	-	C													aaaacgaggctacatcgcttINScccctttttgaagcgcaaaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:125805497_125805498insC	uc001lhl.2	-	1	744_745	c.231_232insG	c.(229-234)GGGAAGfs	p.G77fs	CHST15_uc001lhm.2_Frame_Shift_Ins_p.G77fs|CHST15_uc001lhn.2_Frame_Shift_Ins_p.G77fs|CHST15_uc010que.1_Frame_Shift_Ins_p.G77fs|CHST15_uc001lho.2_Frame_Shift_Ins_p.G77fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	77_78	Cytoplasmic (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						CTACATCGCTTCCCCTTTTTGA	0.465													C	125805498	-	C	125805497	7	5	193	1	0	1	1	0	0	0	0	0	3403	1792	62	0	1481	0	CHST15	10	125805497	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1051266	125805497	9729250	929	106162	511	2									
CHST15	51363	broad.mit.edu	37	chr10	125805498	125805499	+	Frame_Shift_Ins	INS	-	-	C													aaacgaggctacatcgcttcINSccctttttgaagcgcaaaaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:125805497_125805498T>TC	uc001lhn.3	-	1	965_966	c.231_232A>GA	c.(229-234)gggaagfs	p.G77fs	CHST15_uc001lhm.3_Frame_Shift_Ins_p.G77fs|CHST15_uc010que.2_Frame_Shift_Ins_p.G77fs|CHST15_uc001lho.3_Frame_Shift_Ins_p.G77fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	77					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						CTACATCGCTTCCCCTTTTTGA	0.465													C	125805499	-	C	125805498	7	5	193	1	0	1	1	0	0	0	0	0	3403	842	30	0	1482	0	CHST15	10	125805498	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	125805498	9729249	930	106163	511	2									
FAM53B	9679	broad.mit.edu	37	chr10	126370273	126370273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtcgttaaggacacacGgctgggagcggctgcgggaa	16	9	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:126370273G>A	uc001lhv.1	-	4	1332	c.809C>T	c.(808-810)CCG>CTG	p.P270L	FAM53B_uc001lhu.1_Missense_Mutation_p.P270L|FAM53B_uc001lhw.2_Missense_Mutation_p.P270L	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	270										ovary(1)|pancreas(1)	2		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)		AAGGACACACGGCTGGGAGCG	0.582													A	126370273	G	A	126370273	3	1	193	1	0	0	0	0	1	0	0	0	5580	1116	39	1	467	1	FAM53B	10	126370273	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	564775	126370273	9164474	931	106164											
MKI67	4288	broad.mit.edu	37	chr10	129908709	129908709	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaaactgttttccaagCaaattctctgaatttgaaat	5	8	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:129908709C>G	uc001lke.2	-	12	2544	c.2349G>C	c.(2347-2349)TTG>TTC	p.L783F	MKI67_uc001lkf.2_Missense_Mutation_p.L423F|MKI67_uc009yav.1_Missense_Mutation_p.L358F|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	783					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				GTTTTCCAAGCAAATTCTCTG	0.423													G	129908709	C	G	129908709	3	3	193	1	0	0	0	0	1	0	0	0	9598	709	25	5	7437	5	MKI67	10	129908709	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3538436	129908709	5626038	932	106165											
BNIP3	664	broad.mit.edu	37	chr10	133784266	133784266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgagggtggccgtgcGcttcgggtgtttaaagagga	17	7	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr10:133784266G>A	uc001lkv.1	-	5	541	c.415C>T	c.(415-417)CGC>TGC	p.R139C	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.R139C	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	139					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGGCCGTGCGCTTCGGGTGT	0.532													A	133784266	G	A	133784266	3	1	193	1	0	0	0	0	1	0	0	0	1478	1087	38	1	177	1	BNIP3	10	133784266	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3875557	133784266	1750481	933	106166											
RNH1	6050	broad.mit.edu	37	chr11	502079	502079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgaccacttggcactgCtggagcagagggaggagctc	14	11	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:502079C>T	uc001lpk.1	-	1	1492	c.84G>A	c.(82-84)CAG>CAA	p.Q28Q	RNH1_uc001lpl.1_Silent_p.Q28Q|RNH1_uc001lpm.1_Silent_p.Q28Q|RNH1_uc001lpn.1_Silent_p.Q28Q|RNH1_uc001lpo.1_Silent_p.Q28Q|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.Q28Q|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Silent_p.Q28Q|RNH1_uc001lpr.1_Silent_p.Q28Q|RNH1_uc001lps.1_Silent_p.Q28Q|RNH1_uc009ybx.1_Silent_p.Q28Q	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	28	LRR 1.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		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)		CTTGGCACTGCTGGAGCAGAG	0.642													T	502079	C	T	502079	2	4	193	1	0	0	0	0	0	0	0	1	13504	796	28	2		2	RNH1	11	502079	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08		502079	134504437	934	106167											
PHRF1	57661	broad.mit.edu	37	chr11	596998	596998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcccggaatgtgctgcGcctggtgttgtccttgccgc	13	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:596998G>A	uc001lqe.2	+	7	827	c.696G>A	c.(694-696)GCG>GCA	p.A232A	PHRF1_uc010qwc.1_Silent_p.A232A|PHRF1_uc010qwd.1_Silent_p.A231A|PHRF1_uc010qwe.1_Silent_p.A228A|PHRF1_uc009ybz.1_Silent_p.A23A	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	232	PHD-type.						RNA polymerase binding|zinc ion binding				0						AATGTGCTGCGCCTGGTGTTG	0.627													A	596998	G	A	596998	2	1	193	1	0	0	0	0	0	0	0	1	11861	1074	38	1		1	PHRF1	11	596998	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	94919	596998	134409518	935	106168											
CDHR5	53841	broad.mit.edu	37	chr11	621608	621608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaatgtcgtccttgtcgCggtcctcagcctgcagttgc	11	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:621608C>T	uc001lqj.2	-	5	566	c.461G>A	c.(460-462)CGC>CAC	p.R154H	CDHR5_uc001lqk.2_Missense_Mutation_p.R154H|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.R154H|CDHR5_uc001lql.2_Missense_Mutation_p.R154H|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.R123H	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	154	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GTCCTTGTCGCGGTCCTCAGC	0.637													T	621608	C	T	621608	3	4	193	1	0	0	0	0	1	0	0	0	3122	768	27	1	2120	1	CDHR5	11	621608	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	24610	621608	134384908	936	106169											
PNPLA2	57104	broad.mit.edu	37	chr11	821634	821634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtgccccaggtgaggCtggtgccaagttcattgagg	15	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:821634C>T	uc001lrt.2	+	3	396	c.194C>T	c.(193-195)GCT>GTT	p.A65V	PNPLA2_uc009ycl.2_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	65	Lumenal (Potential).|Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity				0		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)		CCAGGTGAGGCTGGTGCCAAG	0.587													T	821634	C	T	821634	3	4	193	1	0	0	0	0	1	0	0	0	12165	797	28	2	200	2	PNPLA2	11	821634	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	200026	821634	134184882	937	106170											
MUC5B	727897	broad.mit.edu	37	chr11	1261421	1261421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccagcctgcacctgcacCtatgaggacaggacctacag	9	16	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:1261421C>T	uc009ycr.1	+	46	5991	c.5865C>T	c.(5863-5865)ACC>ACT	p.T1955T	MUC5B_uc001ltb.2_Silent_p.T1265T|MUC5B_uc001lta.2_Silent_p.T930T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1262					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GCACCTGCACCTATGAGGACA	0.647													T	1261421	C	T	1261421	2	4	193	1	0	0	0	0	0	0	0	1	9979	668	24	4		4	MUC5B	11	1261421	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	439787	1261421	133745095	938	106171											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651497	1651497	+	Frame_Shift_Del	DEL	G	G	-													aggggggctgtggctcctgtGgggggtccaaggggggctgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:1651497delG	uc001lty.2	+	1	465	c.427delG	c.(427-429)GGGfs	p.G143fs		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	143	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		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)		TGGCTCCTGTGGGGGGTCCAA	0.687													-	1651497	G	-	1651497	7	5	193	1	0	1	0	1	0	0	0	0	8564	1348	47	0	429	0	KRTAP5-5	11	1651497	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	390076	1651497	133355019	939	106172											
CARS	833	broad.mit.edu	37	chr11	3023796	3023796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctgtttcctccgggccGcctcctctttcttcttcctc	6	18	3	0	rs141404196		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:3023796G>A	uc001lxh.2	-	20	2077	c.2003C>T	c.(2002-2004)GCG>GTG	p.A668V	CARS_uc009ydu.2_Intron|CARS_uc001lxe.2_Missense_Mutation_p.A658V|CARS_uc001lxf.2_Missense_Mutation_p.A751V|CARS_uc001lxg.2_Missense_Mutation_p.A668V|CARS_uc010qxo.1_Missense_Mutation_p.A751V|CARS_uc010qxp.1_Missense_Mutation_p.A681V	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	668					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		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)	CCTCCGGGCCGCCTCCTCTTT	0.572			T	ALK	ALCL								A	3023796	G	A	3023796	3	1	193	1	0	0	0	0	1	0	0	0	2657	1087	38	1	263	1	CARS	11	3023796	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1372299	3023796	131982720	940	106173											
STIM1	6786	broad.mit.edu	37	chr11	4080587	4080587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcggcagaagctgcagCtgaaggctctggatacagtg	14	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:4080587C>T	uc001lyv.2	+	5	1142	c.574C>T	c.(574-576)CTG>TTG	p.L192L	STIM1_uc009yef.2_Silent_p.L192L|STIM1_uc009yeg.2_Silent_p.L19L	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	192	SAM.|Extracellular (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAAGCTGCAGCTGAAGGCTCT	0.532													T	4080587	C	T	4080587	2	4	193	1	0	0	0	0	0	0	0	1	15282	796	28	2		2	STIM1	11	4080587	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1056791	4080587	130925929	941	106174											
RRM1	6240	broad.mit.edu	37	chr11	4133248	4133248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtttactcatgcttcGcccactctcttcaatgctgg	9	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:4133248G>A	uc001lyw.3	+	7	925	c.606G>A	c.(604-606)TCG>TCA	p.S202S	RRM1_uc009yeh.1_Silent_p.S105S|RRM1_uc009yei.2_Silent_p.S162S|RRM1_uc010qyc.1_Silent_p.S105S	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	202		Substrate (By similarity).			deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTCATGCTTCGCCCACTCTCT	0.428													A	4133248	G	A	4133248	2	1	193	1	0	0	0	0	0	0	0	1	13681	1074	38	1		1	RRM1	11	4133248	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	52661	4133248	130873268	942	106175											
OR51V1	283111	broad.mit.edu	37	chr11	5221605	5221605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatggatgaaataggacTgggcaatgcaggaatccaag	13	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:5221605T>C	uc010qyz.1	-	1	326	c.326A>G	c.(325-327)CAG>CGG	p.Q109R		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATAGGACTGGGCAATGCA	0.522													C	5221605	T	C	5221605	3	2	193	1	0	0	0	0	1	0	0	0	11107	1580	55	3	642	3	OR51V1	11	5221605	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1088357	5221605	129784911	943	106176											
TRIM5	85363	broad.mit.edu	37	chr11	5701141	5701141	+	Frame_Shift_Del	DEL	C	C	-													gcacaatgatcaactttctgCccctctgggctcaacttgac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:5701141delC	uc001mbm.1	-	2	524	c.267delG	c.(265-267)GGGfs	p.G89fs	TRIM5_uc001mbq.1_Frame_Shift_Del_p.G89fs|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Frame_Shift_Del_p.G89fs|TRIM5_uc001mbo.2_Frame_Shift_Del_p.G89fs|TRIM5_uc001mbp.2_Frame_Shift_Del_p.G89fs	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	89					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		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)		CAACTTTCTGCCCCTCTGGGC	0.532													-	5701141	C	-	5701141	7	5	193	1	0	1	0	1	0	0	0	0	16522	726	26	0	1481	0	TRIM5	11	5701141	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	479536	5701141	129305375	944	106177											
DCHS1	8642	broad.mit.edu	37	chr11	6655386	6655386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagtcaaagcttgagGgcccctggtcacggtccagg	14	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:6655386G>T	uc001mem.1	-	3	2359	c.1949C>A	c.(1948-1950)CCC>CAC	p.P650H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	650	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCTTGAGGGCCCCTGGTC	0.597													T	6655386	G	T	6655386	3	4	193	1	0	0	0	0	1	0	0	0	4287	1232	43	5	8023	5	DCHS1	11	6655386	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	954245	6655386	128351130	945	106178											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs143767864	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		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)		CTGGGCCCTCCGGGGGGGTGA	0.587													-	6662142	G	-	6662142	7	5	193	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	6756	6662142	128344374	946	106179											
NLRP10	338322	broad.mit.edu	37	chr11	7981709	7981709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccccagccggctttGgtcctctttcaccaggtaag	8	16	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:7981709G>T	uc001mfv.1	-	2	1467	c.1450C>A	c.(1450-1452)CAA>AAA	p.Q484K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	484	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCGGCTTTGGTCCTCTTTC	0.507													T	7981709	G	T	7981709	3	4	193	1	0	0	0	0	1	0	0	0	10472	1357	47	5	521	5	NLRP10	11	7981709	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1319567	7981709	127024807	947	106180											
NLRP10	338322	broad.mit.edu	37	chr11	7982707	7982707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaaatagagcctccaccGtgacagactccagctcctgc	7	15	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:7982707G>A	uc001mfv.1	-	2	469	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	151							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTCCACCGTGACAGACTC	0.582													A	7982707	G	A	7982707	3	1	193	1	0	0	0	0	1	0	0	0	10472	1145	40	1	1519	1	NLRP10	11	7982707	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	998	7982707	127023809	948	106181											
STK33	65975	broad.mit.edu	37	chr11	8496404	8496404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttctgagaagcagatgAacagtcggggcattttgtgg	13	6	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:8496404A>G	uc001mgi.1	-	1	968	c.49T>C	c.(49-51)TCA>CCA	p.S17P	STK33_uc001mgj.1_Missense_Mutation_p.S17P|STK33_uc001mgk.1_Missense_Mutation_p.S17P|STK33_uc010rbn.1_Intron|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	17						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAAGCAGATGAACAGTCGGGG	0.398													G	8496404	A	G	8496404	3	3	193	1	0	0	0	0	1	0	0	0	15299	246	9	3	1543	3	STK33	11	8496404	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	513697	8496404	126510112	949	106182											
NRIP3	56675	broad.mit.edu	37	chr11	9005478	9005478	+	Frame_Shift_Del	DEL	C	C	-													atttcttccttgtctgtcttCcccatgatcagccggtgctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:9005478delC	uc001mhg.2	-	6	768	c.654delG	c.(652-654)GGGfs	p.G218fs	NRIP3_uc010rbu.1_3'UTR	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	218					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TGTCTGTCTTCCCCATGATCA	0.438													-	9005478	C	-	9005478	7	5	193	1	0	1	0	1	0	0	0	0	10654	842	30	0	79	0	NRIP3	11	9005478	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	509074	9005478	126001038	950	106183											
ZNF143	7702	broad.mit.edu	37	chr11	9499965	9499965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagagtgcattacaggcGgttcagctggaagatggtac	14	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:9499965G>A	uc001mhr.2	+	6	520	c.402G>A	c.(400-402)GCG>GCA	p.A134A	ZNF143_uc009yfu.2_Silent_p.A133A|ZNF143_uc010rby.1_Silent_p.A103A	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	134					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	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CATTACAGGCGGTTCAGCTGG	0.433													A	9499965	G	A	9499965	2	1	193	1	0	0	0	0	0	0	0	1	17729	1103	39	1		1	ZNF143	11	9499965	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	494487	9499965	125506551	951	106184											
AMPD3	272	broad.mit.edu	37	chr11	10508889	10508889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgaagagtaacccccaccGggacttctataacgtgagaa	10	10	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:10508889G>T	uc001mio.1	+	6	1252	c.917G>T	c.(916-918)CGG>CTG	p.R306L	AMPD3_uc010rbz.1_Missense_Mutation_p.R147L|AMPD3_uc001min.1_Missense_Mutation_p.R315L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.R313L|AMPD3_uc009yfy.2_Missense_Mutation_p.R306L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	306					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AACCCCCACCGGGACTTCTAT	0.532													T	10508889	G	T	10508889	3	4	193	1	0	0	0	0	1	0	0	0	587	1116	39	5	986	5	AMPD3	11	10508889	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1008924	10508889	124497627	952	106185											
GALNTL4	374378	broad.mit.edu	37	chr11	11643032	11643032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgcacatacacgctggCgatgtagttggtgacccagc	11	15	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:11643032C>T	uc001mjo.2	-	1	530	c.109G>A	c.(109-111)GCC>ACC	p.A37T		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	37	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TACACGCTGGCGATGTAGTTG	0.572													T	11643032	C	T	11643032	3	4	193	1	0	0	0	0	1	0	0	0	6223	768	27	1	1758	1	GALNTL4	11	11643032	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1134143	11643032	123363484	953	106186											
COPB1	1315	broad.mit.edu	37	chr11	14510133	14510133	+	Splice_Site	DEL	A	A	-													gtaatccaaagctcgatcctAaaaaaaataagaatatattt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					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|ER-Golgi intermediate compartment|cytosol|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						AGCTCGATCCTAAAAAAAATA	0.294													-	14510133	A	-	14510133	8	5	193	1	0	1	0	1	0	0	1	0	3728	377	13	0		0	COPB1	11	14510133	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2867101	14510133	120496383	954	106187											
PSMA1	5682	broad.mit.edu	37	chr11	14529273	14529273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatcatcatcatagattgTaaactccaagtctttaccaa	3	10	5	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:14529273T>C	uc001mlk.2	-	9	810	c.664A>G	c.(664-666)ACA>GCA	p.T222A	PSMA1_uc001mll.2_Missense_Mutation_p.T228A|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.T197A	NM_002786	NP_002777	P25786	PSA1_HUMAN	proteasome alpha 1 subunit isoform 2	222					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			upper_aerodigestive_tract(1)|skin(1)	2						TCATAGATTGTAAACTCCAAG	0.343													C	14529273	T	C	14529273	3	2	193	1	0	0	0	0	1	0	0	0	12666	1638	57	3	135	3	PSMA1	11	14529273	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	19140	14529273	120477243	955	106188											
PLEKHA7	144100	broad.mit.edu	37	chr11	16816067	16816067	+	Frame_Shift_Del	DEL	G	G	-													cgccttagttggtgactgaaGgggggatgtcactttcctca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:16816066_16816066AG>A	uc010rcu.1	-	18	2729	c.2714_2714CT>T	c.(2713-2715)cttfs	p.L905fs	PLEKHA7_uc001mmo.3_Frame_Shift_Del_p.L905fs|PLEKHA7_uc001mmm.3_5'Flank|PLEKHA7_uc010rcv.2_Frame_Shift_Del_p.L479fs|PLEKHA7_uc001mmn.3_Frame_Shift_Del_p.L613fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	905	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						TGGTGACTGAAGGGGGGATGT	0.547													-	16816067	G	-	16816067	7	5	193	1	0	1	0	1	0	0	0	0	12061	1000	35	0	672	0	PLEKHA7	11	16816067	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	2286794	16816067	118190449	956	106189											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190949	17190949	+	Frame_Shift_Del	DEL	T	T	-													agtaactggtaatacaggtgTttttttagtctcgaaactgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:17190948_17190948GT>G	uc001mmq.4	-	0	406	c.341_341AC>C	c.(340-342)acafs	p.T114fs	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Frame_Shift_Del_p.T114fs|PIK3C2A_uc009ygv.1_Frame_Shift_Del_p.T114fs	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	114	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|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)	TAATACAGGTGTTTTTTTAGT	0.408													-	17190949	T	-	17190949	7	5	193	1	0	1	0	1	0	0	0	0	11909	1725	60	0	4848	0	PIK3C2A	11	17190949	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	374882	17190949	117815567	957	106190											
ABCC8	6833	broad.mit.edu	37	chr11	17449860	17449860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagcagttgtcagcatcGccatctgcactggggaccag	11	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:17449860G>A	uc001mnc.2	-	14	2142	c.2016C>T	c.(2014-2016)GGC>GGT	p.G672G		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	672	Cytoplasmic (By similarity).				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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTCAGCATCGCCATCTGCAC	0.652													A	17449860	G	A	17449860	2	1	193	1	0	0	0	0	0	0	0	1	58	1074	38	1		1	ABCC8	11	17449860	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	258911	17449860	117556656	958	106191											
SERGEF	26297	broad.mit.edu	37	chr11	17809839	17809839	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagtggccagccccacaGcccacaaggagtcctgacga	12	14	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:17809839G>T	uc001mnm.2	-	11	1250	c.1170C>A	c.(1168-1170)GGC>GGA	p.G390G	SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_3'UTR	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	390	RCC1 7.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1						CAGCCCCACAGCCCACAAGGA	0.627													T	17809839	G	T	17809839	2	4	193	1	0	0	0	0	0	0	0	1	14077	958	34	5		5	SERGEF	11	17809839	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	359979	17809839	117196677	959	106192											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-													ggccactgacagaccgccccGgggggcccaagccactcact							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:18636366_18636366CG>C	uc001moy.3	-	2	1671	c.1455_1455CG>G	c.(1453-1455)ccgfs	p.P485fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.P485fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	485	Ser-rich.							p.P485P(2)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CAGACCGCCCCGGGGGGCCCA	0.602													-	18636367	G	-	18636367	7	5	193	1	0	1	0	1	0	0	0	0	15125	1116	39	0	619	0	SPTY2D1	11	18636367	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	826528	18636367	116370149	960	106193											
E2F8	79733	broad.mit.edu	37	chr11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttgttgagattgtgtcGcccgtgccaagtgtacctgt	13	8	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:19256510G>A	uc001mpm.2	-	5	1069	c.547C>T	c.(547-549)CGA>TGA	p.R183*	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Nonsense_Mutation_p.R183*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	183					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AGATTGTGTCGCCCGTGCCAA	0.463													A	19256510	G	A	19256510	4	1	193	1	0	0	0	0	0	1	0	0	4873	1095	38	1	2092	1	E2F8	11	19256510	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	620143	19256510	115750006	961	106194											
NAV2	89797	broad.mit.edu	37	chr11	20066528	20066528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaggaaaaacagacgacGcaaaggtgtctgagaaagga	12	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:20066528G>A	uc010rdm.1	+	15	3644	c.3283G>A	c.(3283-3285)GCA>ACA	p.A1095T	NAV2_uc001mpp.2_Missense_Mutation_p.A1008T|NAV2_uc001mpr.3_Missense_Mutation_p.A1072T|NAV2_uc001mpt.2_Missense_Mutation_p.A158T|NAV2_uc009yhx.2_Missense_Mutation_p.A158T|NAV2_uc009yhy.1_Missense_Mutation_p.A71T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1095						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AACAGACGACGCAAAGGTGTC	0.517													A	20066528	G	A	20066528	3	1	193	1	0	0	0	0	1	0	0	0	10184	1087	38	1	3377	1	NAV2	11	20066528	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	810018	20066528	114939988	962	106195											
ANO3	63982	broad.mit.edu	37	chr11	26529809	26529809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgatgttggagaaggaGgtaggtgctttactattatt	14	3	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:26529809G>A	uc001mqt.3	+	5	736	c.591G>A	c.(589-591)GAG>GAA	p.E197E	ANO3_uc010rdr.1_Silent_p.E181E|ANO3_uc010rds.1_Silent_p.E51E|ANO3_uc010rdt.1_Silent_p.E51E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	197	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGAGAAGGAGGTAGGTGCTT	0.294													A	26529809	G	A	26529809	2	1	193	1	0	0	0	0	0	0	0	1	698	1014	35	4		4	ANO3	11	26529809	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6463281	26529809	108476707	963	106196											
KIF18A	81930	broad.mit.edu	37	chr11	28112174	28112174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcttacttggaaaacaGcatgagaacgagaagatgtg	12	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:28112174G>T	uc001msc.2	-	5	871	c.689C>A	c.(688-690)GCT>GAT	p.A230D		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	230	Kinesin-motor.				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			ovary(2)	2						TTGGAAAACAGCATGAGAACG	0.328													T	28112174	G	T	28112174	3	4	193	1	0	0	0	0	1	0	0	0	8280	971	34	5	2059	5	KIF18A	11	28112174	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1582365	28112174	106894342	964	106197											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					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						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	193	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	7401496	35513670	99492846	965	106198											
EXT2	2132	broad.mit.edu	37	chr11	44129758	44129758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttaaccagaacacactgCgcatcaaggagacagcacaa	8	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:44129758C>T	uc001mxz.2	+	2	830	c.496C>T	c.(496-498)CGC>TGC	p.R166C	EXT2_uc010rfo.1_Missense_Mutation_p.R194C|EXT2_uc001mxy.2_Missense_Mutation_p.R179C|EXT2_uc009ykt.2_Missense_Mutation_p.R166C|EXT2_uc001mya.2_Missense_Mutation_p.R199C	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	166	Lumenal (Potential).				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			lung(2)|breast(2)|skin(1)	5						GAACACACTGCGCATCAAGGA	0.532			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				T	44129758	C	T	44129758	3	4	193	1	0	0	0	0	1	0	0	0	5324	768	27	1	601	1	EXT2	11	44129758	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	8616088	44129758	90876758	966	106199											
CHST1	8534	broad.mit.edu	37	chr11	45671728	45671728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccagagccggtacgtgTcgcggaaggtctcgctgcgc	16	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:45671728T>C	uc001mys.1	-	4	1417	c.746A>G	c.(745-747)GAC>GGC	p.D249G		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	249	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCGGTACGTGTCGCGGAAGGT	0.647													C	45671728	T	C	45671728	3	2	193	1	0	0	0	0	1	0	0	0	3397	1667	58	3	493	3	CHST1	11	45671728	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1541970	45671728	89334788	967	106200											
AMBRA1	55626	broad.mit.edu	37	chr11	46419362	46419362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacgatgatgttgttgcCgaagccgcccatggaggcca	14	11	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:46419362C>T	uc010rgu.1	-	18	3895	c.3535G>A	c.(3535-3537)GGC>AGC	p.G1179S	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.G1150S|AMBRA1_uc001ncu.1_Missense_Mutation_p.G1089S|AMBRA1_uc001ncv.2_Missense_Mutation_p.G1182S|AMBRA1_uc001ncw.2_Missense_Mutation_p.G1060S|AMBRA1_uc001ncx.2_Missense_Mutation_p.G1119S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1179					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATGTTGTTGCCGAAGCCGCCC	0.657													T	46419362	C	T	46419362	3	4	193	1	0	0	0	0	1	0	0	0	565	652	23	1	365	1	AMBRA1	11	46419362	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	747634	46419362	88587154	968	106201											
KIAA0652	9776	broad.mit.edu	37	chr11	46690085	46690085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatataccctttgccatgTttgctcccaagaatttggag	9	9	0	1	rs141181676		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:46690085T>C	uc009yld.2	+	15	1873	c.1189T>C	c.(1189-1191)TTT>CTT	p.F397L	KIAA0652_uc001nda.2_Missense_Mutation_p.F430L|KIAA0652_uc001ndb.2_Missense_Mutation_p.F397L|KIAA0652_uc001ncz.2_Missense_Mutation_p.F360L|KIAA0652_uc001ndc.2_Missense_Mutation_p.F360L|KIAA0652_uc010rgv.1_Missense_Mutation_p.F281L	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	397					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		CTTTGCCATGTTTGCTCCCAA	0.507													C	46690085	T	C	46690085	3	2	193	1	0	0	0	0	1	0	0	0	8188	1725	60	3	1239	3	KIAA0652	11	46690085	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	270723	46690085	88316431	969	106202											
F2	2147	broad.mit.edu	37	chr11	46744981	46744981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacaggagaatttctgcCgcaaccccgacagcagcacc	8	16	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:46744981C>T	uc001ndf.3	+	6	515	c.472C>T	c.(472-474)CGC>TGC	p.R158C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	158	Kringle 1.				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			ovary(3)	3		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)	GAATTTCTGCCGCAACCCCGA	0.592													T	46744981	C	T	46744981	3	4	193	1	0	0	0	0	1	0	0	0	5342	652	23	1	494	1	F2	11	46744981	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	54896	46744981	88261535	970	106203											
PSMC3	5702	broad.mit.edu	37	chr11	47445735	47445735	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggagtctttgttcacaccCtaaggacacagcacagggcc	10	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:47445735C>A	uc001nfh.2	-	6	648	c.454_splice	c.e6-1	p.G152_splice	PSMC3_uc009ylr.1_Splice_Site_p.G110_splice	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3						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 complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGTTCACACCCTAAGGACACA	0.572													A	47445735	C	A	47445735	5	1	193	1	0	0	0	0	0	0	1	0	12687	695	24	5	894	5	PSMC3	11	47445735	Splice_Site	SNP	C	TCGA-CG-5726-01A-11D-1600-08	700754	47445735	87560781	971	106204											
OR4C3	256144	broad.mit.edu	37	chr11	48346882	48346882	+	Frame_Shift_Del	DEL	T	T	-													gctcagctctttggagctcaTtttttgggaggtgttgagat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:48346881_48346881AT>A	uc010rhv.2	+	0	389	c.389_389AT>A	c.(388-390)catfs	p.H130fs		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	103					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						TTTGGAGCTCATTTTTTGGGA	0.458													-	48346882	T	-	48346882	7	5	193	1	0	1	0	1	0	0	0	0	11050	1490	52	0	392	0	OR4C3	11	48346882	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	901147	48346882	86659634	972	106205											
OR4C46	119749	broad.mit.edu	37	chr11	51515297	51515297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacatggagaataggaatAacatgacagagtttgttttg	10	3	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:51515297A>G	uc010ric.1	+	1	16	c.16A>G	c.(16-18)AAC>GAC	p.N6D		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAATAGGAATAACATGACAGA	0.299													G	51515297	A	G	51515297	3	3	193	1	0	0	0	0	1	0	0	0	11051	362	13	3	18	3	OR4C46	11	51515297	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3168415	51515297	83491219	973	106206											
OR5D18	219438	broad.mit.edu	37	chr11	55587636	55587638	+	In_Frame_Del	DEL	CTT	CTT	-													ggtttcaacacaatcaatcaCttcttctgtgagttctcctc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55587636_55587638delCTT	uc010rin.1	+	1	531_533	c.531_533delCTT	c.(529-534)CACTTC>CAC	p.F179del		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				CAATCAATCACTTCTTCTGTGAG	0.433													-	55587638	CTT	-	55587636	7	5	193	1	0	1	0	1	0	0	0	0	11157	564	20	0	533	0	OR5D18	11	55587636	In_Frame_Del	DEL	CTT	TCGA-CG-5726-01A-11D-1600-08	4072339	55587636	79418880	974	106207											
SPRYD5	84767	broad.mit.edu	37	chr11	55656478	55656478	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttggagacatattacacagGtgagtgcacaccaagatttt	9	7	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55656478G>C	uc010rip.1	+	5	853	c.761_splice	c.e5+1	p.R254_splice	SPRYD5_uc010riq.1_Splice_Site_p.R111_splice	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5							intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TATTACACAGGTGAGTGCACA	0.368													C	55656478	G	C	55656478	5	2	193	1	0	0	0	0	0	0	1	0	15110	1275	44	5	776	5	SPRYD5	11	55656478	Splice_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	68842	55656478	79350038	975	106208											
OR8I2	120586	broad.mit.edu	37	chr11	55861672	55861672	+	Frame_Shift_Del	DEL	A	A	-													gtctgaggaacaaagatgtgAaaaatgctcttctgagagtc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55861672delA	uc010rix.1	+	1	889	c.889delA	c.(889-891)AAAfs	p.K297fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					CAAAGATGTGAAAAATGCTCT	0.393													-	55861672	A	-	55861672	7	5	193	1	0	1	0	1	0	0	0	0	11240	247	9	0	891	0	OR8I2	11	55861672	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	205194	55861672	79144844	976	106209											
OR5J2	282775	broad.mit.edu	37	chr11	55944701	55944701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttgttgctgttaaccttctCcggagtcattgccatggcca	10	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:55944701C>A	uc010rjb.1	+	1	608	c.608C>A	c.(607-609)TCC>TAC	p.S203Y		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTAACCTTCTCCGGAGTCATT	0.463													A	55944701	C	A	55944701	3	1	193	1	0	0	0	0	1	0	0	0	11165	855	30	5	610	5	OR5J2	11	55944701	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	83029	55944701	79061815	977	106210											
OR5AP2	338675	broad.mit.edu	37	chr11	56409724	56409724	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctactgagaaagaaatacatGggggtgtggagacagagatc	14	5	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:56409724G>T	uc001njb.1	-	1	192	c.192C>A	c.(190-192)CCC>CCA	p.P64P		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						AGAAATACATGGGGGTGTGGA	0.438													T	56409724	G	T	56409724	2	4	193	1	0	0	0	0	0	0	0	1	11144	1335	47	5		5	OR5AP2	11	56409724	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	465023	56409724	78596792	978	106211											
APLNR	187	broad.mit.edu	37	chr11	57004323	57004323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggctgctccgaaacacGgtccagagcaccagaccgtt	10	16	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:57004323G>A	uc001njo.2	-	1	605	c.156C>T	c.(154-156)ACC>ACT	p.T52T	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	52	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity	p.T52N(1)		lung(5)|ovary(1)	6						TCCGAAACACGGTCCAGAGCA	0.612													A	57004323	G	A	57004323	2	1	193	1	0	0	0	0	0	0	0	1	777	1103	39	1		1	APLNR	11	57004323	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	594599	57004323	78002193	979	106212											
MS4A8B	83661	broad.mit.edu	37	chr11	60468386	60468386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caattctgtgttggtggtggCaccccacaatggttatcctg	11	10	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:60468386C>A	uc001npv.2	+	2	256	c.53C>A	c.(52-54)GCA>GAA	p.A18E	MS4A8B_uc009yne.1_Missense_Mutation_p.A18E	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	membrane-spanning 4-domains, subfamily A, member	18	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						TTGGTGGTGGCACCCCACAAT	0.507													A	60468386	C	A	60468386	3	1	193	1	0	0	0	0	1	0	0	0	9867	710	25	5	55	5	MS4A8B	11	60468386	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3464063	60468386	74538130	980	106213											
DAGLA	747	broad.mit.edu	37	chr11	61511425	61511425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctgggcagtggcggcGtcactcctgagcggcccccc	15	18	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:61511425G>A	uc001nsa.2	+	20	2704	c.2593G>A	c.(2593-2595)GTC>ATC	p.V865I		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	865	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CAGTGGCGGCGTCACTCCTGA	0.731													A	61511425	G	A	61511425	3	1	193	1	0	0	0	0	1	0	0	0	4226	1145	40	1	2667	1	DAGLA	11	61511425	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1043039	61511425	73495091	981	106214											
INCENP	3619	broad.mit.edu	37	chr11	61897562	61897562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcatgtcacccagctcatgtCcaccgagcctctgccccgca	8	19	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:61897562C>A	uc001nsw.1	+	4	765	c.563C>A	c.(562-564)TCC>TAC	p.S188Y	INCENP_uc009ynv.2_Missense_Mutation_p.S188Y|INCENP_uc009ynw.1_Missense_Mutation_p.S188Y|INCENP_uc001nsx.1_Missense_Mutation_p.S188Y	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	188					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						CAGCTCATGTCCACCGAGCCT	0.602													A	61897562	C	A	61897562	3	1	193	1	0	0	0	0	1	0	0	0	7733	855	30	5	573	5	INCENP	11	61897562	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	386137	61897562	73108954	982	106215											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62482999	62482999	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtattgtctgtaatagtcTctgtatctgttgtactcata	7	6	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:62482999T>C	uc001nuw.2	-	13	2329	c.2136A>G	c.(2134-2136)AGA>AGG	p.R712R	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	712	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding				0						TGTAATAGTCTCTGTATCTGT	0.428													C	62482999	T	C	62482999	2	2	193	1	0	0	0	0	0	0	0	1	7275	1548	54	3		3	HNRNPUL2	11	62482999	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	585437	62482999	72523517	983	106216											
SLC22A6	9356	broad.mit.edu	37	chr11	62752081	62752081	+	Frame_Shift_Del	DEL	G	G	-													gtgagaagccatcaggagcaGggggaggaccaccagggtga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:62752080_62752080AG>A	uc001nwk.3	-	0	416	c.83_83CT>T	c.(82-84)ctgfs	p.L28fs	SLC22A6_uc001nwl.3_Frame_Shift_Del_p.L28fs|SLC22A6_uc001nwj.3_Frame_Shift_Del_p.L28fs|SLC22A6_uc001nwm.3_Frame_Shift_Del_p.L28fs	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	28					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						CATCAGGAGCAGGGGGAGGAC	0.642													-	62752081	G	-	62752081	7	5	193	1	0	1	0	1	0	0	0	0	14458	991	35	0	1649	0	SLC22A6	11	62752081	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	269082	62752081	72254435	984	106217											
RCOR2	283248	broad.mit.edu	37	chr11	63680346	63680346	+	Frame_Shift_Del	DEL	G	G	-													taaagagcagccatacctccGgggggcgtagtggatcaata							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:63680345_63680345CG>C	uc001nyc.3	-	8	1354	c.966_966CG>G	c.(964-966)ccgfs	p.P322fs		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCCATACCTCCGGGGGGCGTA	0.572													-	63680346	G	-	63680346	7	5	193	1	0	1	0	1	0	0	0	0	13183	1116	39	0	622	0	RCOR2	11	63680346	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	928265	63680346	71326170	985	106218											
NRXN2	9379	broad.mit.edu	37	chr11	64419616	64419616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgcaaacagcgtttcGgggcctttacctgcggcacc	11	16	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:64419616G>A	uc001oar.2	-	14	2866	c.2427C>T	c.(2425-2427)CCC>CCT	p.P809P	NRXN2_uc001oas.2_Silent_p.P769P|NRXN2_uc001oaq.2_Silent_p.P476P	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	170	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane		p.P809P(1)		upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ACAGCGTTTCGGGGCCTTTAC	0.572													A	64419616	G	A	64419616	2	1	193	1	0	0	0	0	0	0	0	1	10666	1103	39	1		1	NRXN2	11	64419616	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	739270	64419616	70586900	986	106219											
LTBP3	4054	broad.mit.edu	37	chr11	65315174	65315174	+	Frame_Shift_Del	DEL	C	C	-													cgctcacccacgcacgagcgCcccccggcgcccacgtgcag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:65315174delC	uc001oej.2	-	13	2234	c.1965delG	c.(1963-1965)GGGfs	p.G655fs	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Frame_Shift_Del_p.G85fs|LTBP3_uc010roi.1_Frame_Shift_Del_p.G538fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.G655fs|LTBP3_uc010roj.1_Frame_Shift_Del_p.G356fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G566fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	655	EGF-like 4; calcium-binding (Potential).|Cys-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CGCACGAGCGCCCCCCGGCGC	0.736													-	65315174	C	-	65315174	7	5	193	1	0	1	0	1	0	0	0	0	9075	726	26	0	2010	0	LTBP3	11	65315174	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	895558	65315174	69691342	987	106220											
MAP3K11	4296	broad.mit.edu	37	chr11	65365835	65365835	+	Frame_Shift_Del	DEL	C	C	-													gtgccctgcagtcctgggggCccccctggaaggggttggca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:65365835delC	uc001oew.2	-	10	2964	c.2471delG	c.(2470-2472)GGCfs	p.G824fs	KCNK7_uc001oeq.2_5'Flank|KCNK7_uc001oer.2_5'Flank|KCNK7_uc001oes.2_5'Flank|KCNK7_uc001oeu.2_5'Flank|MAP3K11_uc001oev.2_Frame_Shift_Del_p.G240fs|MAP3K11_uc010rol.1_Frame_Shift_Del_p.G567fs|MAP3K11_uc001oex.1_Frame_Shift_Del_p.G313fs	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	824	Pro-rich.				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)|lung(1)|central_nervous_system(1)|skin(1)	6						GTCCTGGGGGCCCCCCTGGAA	0.701													-	65365835	C	-	65365835	7	5	193	1	0	1	0	1	0	0	0	0	9245	739	26	0	76	0	MAP3K11	11	65365835	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	50661	65365835	69640681	988	106221											
SF3B2	10992	broad.mit.edu	37	chr11	65822610	65822610	+	Frame_Shift_Del	DEL	C	C	-													ctctgcagcctcctccgccaCccccaccacctccaccaggc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:65822610delC	uc001ogy.1	+	4	362	c.322delC	c.(322-324)CCCfs	p.P108fs	SF3B2_uc001ogx.1_Frame_Shift_Del_p.P108fs	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	108	Poly-Pro.				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						TCCTCCGCCACCCCCACCACC	0.597													-	65822610	C	-	65822610	7	5	193	1	0	1	0	1	0	0	0	0	14151	507	18	0	336	0	SF3B2	11	65822610	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	456775	65822610	69183906	989	106222											
SPTBN2	6712	broad.mit.edu	37	chr11	66457628	66457628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagctgccggcgggCggcagagcttccctgaagct	15	14	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:66457628C>T	uc001ojd.2	-	27	5764	c.5692G>A	c.(5692-5694)GCC>ACC	p.A1898T	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1898	Spectrin 15.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TGCCGGCGGGCGGCAGAGCTT	0.642													T	66457628	C	T	66457628	3	4	193	1	0	0	0	0	1	0	0	0	15119	768	27	1	1524	1	SPTBN2	11	66457628	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	635018	66457628	68548888	990	106223											
LRFN4	78999	broad.mit.edu	37	chr11	66625774	66625774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgacgcactgcccccaGgcgccttcgcccagctcggt	10	17	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:66625774G>A	uc001ojr.2	+	1	899	c.559G>A	c.(559-561)GGC>AGC	p.G187S	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.G187S|LRFN4_uc001ojs.2_Missense_Mutation_p.G187S	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	187	Extracellular (Potential).|LRR 6.					integral to membrane					0						ACTGCCCCCAGGCGCCTTCGC	0.672													A	66625774	G	A	66625774	3	1	193	1	0	0	0	0	1	0	0	0	8940	1000	35	4	561	4	LRFN4	11	66625774	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	168146	66625774	68380742	991	106224											
ADRBK1	156	broad.mit.edu	37	chr11	67048958	67048958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtgcctggacaaaaagCgcatcaagatgaagcagggg	14	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:67048958C>T	uc009yrn.1	+	9	942	c.676C>T	c.(676-678)CGC>TGC	p.R226C	ADRBK1_uc009yrm.1_Missense_Mutation_p.R226C	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	226	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			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GGACAAAAAGCGCATCAAGAT	0.657													T	67048958	C	T	67048958	3	4	193	1	0	0	0	0	1	0	0	0	343	768	27	1	710	1	ADRBK1	11	67048958	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	423184	67048958	67957558	992	106225											
SUV420H1	51111	broad.mit.edu	37	chr11	67925991	67925991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacttctttttggacatgcCtgtgtcactcttatgacact	7	10	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:67925991C>A	uc001onm.1	-	11	2078	c.1822G>T	c.(1822-1824)GGC>TGC	p.G608C	SUV420H1_uc009yse.1_Missense_Mutation_p.G194C|SUV420H1_uc001onn.1_Missense_Mutation_p.G436C|SUV420H1_uc009ysf.2_Missense_Mutation_p.G368C	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TTGGACATGCCTGTGTCACTC	0.483													A	67925991	C	A	67925991	3	1	193	1	0	0	0	0	1	0	0	0	15411	681	24	5	839	5	SUV420H1	11	67925991	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	877033	67925991	67080525	993	106226											
IGHMBP2	3508	broad.mit.edu	37	chr11	68707031	68707031	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtgagagggctcgcgcCcatgcccggcagagaatcag	16	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:68707031C>A	uc001ook.1	+	15	2916	c.2814C>A	c.(2812-2814)GCC>GCA	p.A938A	IGHMBP2_uc001ool.1_Silent_p.A562A	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	938	AN1-type.				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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGGCTCGCGCCCATGCCCGGC	0.642													A	68707031	C	A	68707031	2	1	193	1	0	0	0	0	0	0	0	1	7591	610	22	5		5	IGHMBP2	11	68707031	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	781040	68707031	66299485	994	106227											
PPFIA1	8500	broad.mit.edu	37	chr11	70194330	70194330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaaaatacagagcagcGggcagaggagattgaaagtc	13	5	0	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:70194330G>A	uc001opo.2	+	16	2165	c.1967G>A	c.(1966-1968)CGG>CAG	p.R656Q	PPFIA1_uc001opn.1_Missense_Mutation_p.R656Q|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	656	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACAGAGCAGCGGGCAGAGGAG	0.438													A	70194330	G	A	70194330	3	1	193	1	0	0	0	0	1	0	0	0	12309	1116	39	1	2025	1	PPFIA1	11	70194330	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1487299	70194330	64812186	995	106228											
NADSYN1	55191	broad.mit.edu	37	chr11	71201915	71201915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctacctgaccaagtaCgactgctccagtgcggacat	11	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:71201915C>T	uc001oqn.2	+	17	1713	c.1587C>T	c.(1585-1587)TAC>TAT	p.Y529Y	NADSYN1_uc001oqo.2_Silent_p.Y269Y|NADSYN1_uc001oqp.2_Silent_p.Y158Y	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	529	Ligase (By similarity).				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			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGACCAAGTACGACTGCTCCA	0.632													T	71201915	C	T	71201915	2	4	193	1	0	0	0	0	0	0	0	1	10138	547	19	1		1	NADSYN1	11	71201915	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1007585	71201915	63804601	996	106229											
NUMA1	4926	broad.mit.edu	37	chr11	71716313	71716314	+	Frame_Shift_Ins	INS	-	-	G													atagcaggtcttcagatgtgINSgggggcacactcgattgcgc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:71716312_71716313T>TG	uc001orl.1	-	22	5967_5968	c.5795_5796A>CA	c.(5794-5796)ccafs	p.P1932fs	NUMA1_uc001orj.2_Frame_Shift_Ins_p.P114fs|NUMA1_uc009ysw.1_Frame_Shift_Ins_p.P1499fs|NUMA1_uc001ork.1_Frame_Shift_Ins_p.P796fs|NUMA1_uc001orm.1_Frame_Shift_Ins_p.P1918fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1932					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						TCTTCAGATGTGGGGGGCACAC	0.609			T	RARA	APL								G	71716314	-	G	71716313	7	5	193	1	0	1	1	0	0	0	0	0	10750	1348	47	0	572	0	NUMA1	11	71716313	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	514398	71716313	63290203	997	106230											
WNT11	7481	broad.mit.edu	37	chr11	75898133	75898133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagacatagcgctccacGgtacgctcacacctgcggca	10	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:75898133G>A	uc001oxe.2	-	5	1164	c.1041C>T	c.(1039-1041)ACC>ACT	p.T347T		NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	347					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						AGCGCTCCACGGTACGCTCAC	0.662													A	75898133	G	A	75898133	2	1	193	1	0	0	0	0	0	0	0	1	17381	1103	39	1		1	WNT11	11	75898133	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4181820	75898133	59108383	998	106231											
DLG2	1740	broad.mit.edu	37	chr11	83641443	83641443	+	Missense_Mutation	SNP	T	T	A													ctgagaggaggaagcttttgTcacactcaacaggggaatag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:83641443T>A	uc001paj.2	-	10	1412	c.1109A>T	c.(1108-1110)GAC>GTC	p.D370V	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.D337V|DLG2_uc010rsz.1_Missense_Mutation_p.D370V|DLG2_uc010rta.1_Missense_Mutation_p.D370V|DLG2_uc001pak.2_Missense_Mutation_p.D475V|DLG2_uc010rtb.1_Missense_Mutation_p.D337V|DLG2_uc001pal.1_Missense_Mutation_p.D370V|DLG2_uc001pam.1_Missense_Mutation_p.D409V	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	370						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAAGCTTTTGTCACACTCAAC	0.512													A	83641443	T	A	83641443	3	1	193	1	0	0	0	0	1	0	0	0	4555	1667	58	5	1609	5	DLG2	11	83641443	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	7743310	83641443	51365073	999	106232	512	2									
DLG2	1740	broad.mit.edu	37	chr11	83641447	83641447	+	Missense_Mutation	SNP	A	A	T													gaggaggaagcttttgtcacActcaacaggggaatagtgcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:83641447A>T	uc001paj.2	-	10	1408	c.1105T>A	c.(1105-1107)TGT>AGT	p.C369S	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.C336S|DLG2_uc010rsz.1_Missense_Mutation_p.C369S|DLG2_uc010rta.1_Missense_Mutation_p.C369S|DLG2_uc001pak.2_Missense_Mutation_p.C474S|DLG2_uc010rtb.1_Missense_Mutation_p.C336S|DLG2_uc001pal.1_Missense_Mutation_p.C369S|DLG2_uc001pam.1_Missense_Mutation_p.C408S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	369						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTTTTGTCACACTCAACAGGG	0.517													T	83641447	A	T	83641447	3	4	193	1	0	0	0	0	1	0	0	0	4555	159	6	5	1613	5	DLG2	11	83641447	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	4	83641447	51365069	1000	106233	512	2									
DLG2	1740	broad.mit.edu	37	chr11	83641517	83641517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagtgctgtaaacaggTtccggaggcctggtgataca	12	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:83641517T>C	uc001paj.2	-	10	1338	c.1035A>G	c.(1033-1035)GAA>GAG	p.E345E	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Silent_p.E312E|DLG2_uc010rsz.1_Silent_p.E345E|DLG2_uc010rta.1_Silent_p.E345E|DLG2_uc001pak.2_Silent_p.E450E|DLG2_uc010rtb.1_Silent_p.E312E|DLG2_uc001pal.1_Silent_p.E345E|DLG2_uc001pam.1_Silent_p.E384E	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	345						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTAAACAGGTTCCGGAGGCC	0.473													C	83641517	T	C	83641517	2	2	193	1	0	0	0	0	0	0	0	1	4555	1722	60	3		3	DLG2	11	83641517	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	70	83641517	51364999	1001	106234											
ME3	10873	broad.mit.edu	37	chr11	86267648	86267648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccagccccacggtaggCgtgtacacgattggcatgaa	13	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:86267648C>T	uc001pbz.2	-	3	668	c.414G>A	c.(412-414)ACG>ACA	p.T138T	ME3_uc001pca.2_Silent_p.T138T|ME3_uc009yvk.2_Silent_p.T138T|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	138					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCACGGTAGGCGTGTACACGA	0.592													T	86267648	C	T	86267648	2	4	193	1	0	0	0	0	0	0	0	1	9419	755	27	1		1	ME3	11	86267648	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2626131	86267648	48738868	1002	106235											
GRM5	2915	broad.mit.edu	37	chr11	88386447	88386447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcggtggtttgtttctgGccggagcttcagataataat	12	6	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:88386447G>A	uc001pcq.2	-	3	1236	c.1036C>T	c.(1036-1038)CCA>TCA	p.P346S	GRM5_uc009yvm.2_Missense_Mutation_p.P346S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	346	Extracellular (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTTGTTTCTGGCCGGAGCTTC	0.458													A	88386447	G	A	88386447	3	1	193	1	0	0	0	0	1	0	0	0	6800	1203	42	2	2630	2	GRM5	11	88386447	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2118799	88386447	46620069	1003	106236											
NAALAD2	10003	broad.mit.edu	37	chr11	89892496	89892496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggctttacagggagtgAttctttcaggtaattttgca	10	7	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:89892496A>G	uc001pdf.3	+	8	1089	c.980A>G	c.(979-981)GAT>GGT	p.D327G	NAALAD2_uc009yvx.2_Intron|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	327	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACAGGGAGTGATTCTTTCAGG	0.373													G	89892496	A	G	89892496	3	3	193	1	0	0	0	0	1	0	0	0	10128	333	12	3	1010	3	NAALAD2	11	89892496	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1506049	89892496	45114020	1004	106237											
FAT3	120114	broad.mit.edu	37	chr11	92538325	92538325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaactgcaggaggaaAccctcgaggaaggtttgctc	11	8	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:92538325A>G	uc001pdj.3	+	10	8920	c.8903A>G	c.(8902-8904)AAC>AGC	p.N2968S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2968	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGGAGGAAACCCTCGAGGA	0.438										TCGA Ovarian(4;0.039)			G	92538325	A	G	92538325	3	3	193	1	0	0	0	0	1	0	0	0	5691	43	2	3	8941	3	FAT3	11	92538325	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2645829	92538325	42468191	1005	106238											
FAT3	120114	broad.mit.edu	37	chr11	92539641	92539641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatacgatactcactctaTggatctggaaacagtgaatt	7	7	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:92539641T>C	uc001pdj.3	+	11	9224	c.9207T>C	c.(9205-9207)TAT>TAC	p.Y3069Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3069	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTCACTCTATGGATCTGGAA	0.323										TCGA Ovarian(4;0.039)			C	92539641	T	C	92539641	2	2	193	1	0	0	0	0	0	0	0	1	5691	1471	51	3		3	FAT3	11	92539641	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1316	92539641	42466875	1006	106239											
PIWIL4	143689	broad.mit.edu	37	chr11	94353244	94353244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcatctatgatgacaaCggcttgaagcccgaccatat	8	10	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:94353244C>T	uc001pfa.2	+	19	2587	c.2376C>T	c.(2374-2376)AAC>AAT	p.N792N	PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	792	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGATGACAACGGCTTGAAGC	0.443													T	94353244	C	T	94353244	2	4	193	1	0	0	0	0	0	0	0	1	11960	535	19	1		1	PIWIL4	11	94353244	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1813603	94353244	40653272	1007	106240											
PGR	5241	broad.mit.edu	37	chr11	100998808	100998808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctggcagccccggcccCgccgtcgtaactttcgtctt	12	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:100998808C>T	uc001pgh.2	-	1	1737	c.994G>A	c.(994-996)GGG>AGG	p.G332R	PGR_uc001pgi.2_Missense_Mutation_p.G332R|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	332	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			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		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)	GCCCCGGCCCCGCCGTCGTAA	0.662													T	100998808	C	T	100998808	3	4	193	1	0	0	0	0	1	0	0	0	11805	652	23	1	1839	1	PGR	11	100998808	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6645564	100998808	34007708	1008	106241											
MMP27	64066	broad.mit.edu	37	chr11	102562575	102562575	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaactcttatgatacaatatCtttatgcctcctgaatgtgc	5	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:102562575C>A	uc001phd.1	-	10	1487	c.1464G>T	c.(1462-1464)AAG>AAT	p.K488N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	488					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GATACAATATCTTTATGCCTC	0.299													A	102562575	C	A	102562575	3	1	193	1	0	0	0	0	1	0	0	0	9664	912	32	5	81	5	MMP27	11	102562575	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1563767	102562575	32443941	1009	106242											
MMP12	4321	broad.mit.edu	37	chr11	102738724	102738724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaggtggggaacattacGgcctttggatcactagaatg	13	6	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:102738724G>A	uc001phk.2	-	6	747	c.702C>T	c.(700-702)GCC>GCT	p.A234A		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	234					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				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GGAACATTACGGCCTTTGGAT	0.453													A	102738724	G	A	102738724	2	1	193	1	0	0	0	0	0	0	0	1	9651	1116	39	1		1	MMP12	11	102738724	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	176149	102738724	32267792	1010	106243											
DCUN1D5	84259	broad.mit.edu	37	chr11	102953515	102953515	+	Frame_Shift_Del	DEL	A	A	-													tttaaccattcttccttggtAaaaaatcccatgctttcagc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:102953515delA	uc001phm.2	-	4	571	c.303delT	c.(301-303)TTTfs	p.F101fs	DCUN1D5_uc010ruw.1_Frame_Shift_Del_p.F32fs	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain	101	DCUN1.										0		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)		CTTCCTTGGTAAAAAATCCCA	0.318													-	102953515	A	-	102953515	7	5	193	1	0	1	0	1	0	0	0	0	4317	359	13	0	430	0	DCUN1D5	11	102953515	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	214791	102953515	32053001	1011	106244											
DRD2	1813	broad.mit.edu	37	chr11	113287617	113287617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccgaagaggagtgggcagGagatggtgaaggacaggacc	19	6	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:113287617G>A	uc001pnz.2	-	3	821	c.500C>T	c.(499-501)TCC>TTC	p.S167F	DRD2_uc010rwv.1_Missense_Mutation_p.S166F|DRD2_uc001poa.3_Missense_Mutation_p.S167F|DRD2_uc001pob.3_Missense_Mutation_p.S167F|DRD2_uc009yyr.1_Missense_Mutation_p.S167F	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	167	Helical; Name=4; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		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)	GAGTGGGCAGGAGATGGTGAA	0.592													A	113287617	G	A	113287617	3	1	193	1	0	0	0	0	1	0	0	0	4757	1174	41	4	851	4	DRD2	11	113287617	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	10334102	113287617	21718899	1012	106245											
APOA1	335	broad.mit.edu	37	chr11	116706810	116706810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggcgcgcgcgcggtcgCgcatctcctcgcccagtggg	16	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:116706810C>T	uc001ppu.1	-	4	597	c.518G>A	c.(517-519)CGC>CAC	p.R173H	APOA1_uc001ppv.1_Missense_Mutation_p.R173H	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	173	6.|10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGCGCGGTCGCGCATCTCCTC	0.711													T	116706810	C	T	116706810	3	4	193	1	0	0	0	0	1	0	0	0	780	768	27	1	289	1	APOA1	11	116706810	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3419193	116706810	18299706	1013	106246											
CEP164	22897	broad.mit.edu	37	chr11	117280511	117280511	+	Frame_Shift_Del	DEL	C	C	-													tccccgggaccctaagagcaCccccacccccacctactatg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:117280510_117280510AC>A	uc001prc.3	+	29	4072	c.3925_3925AC>A	c.(3925-3927)accfs	p.T1309fs	CEP164_uc001prb.3_Frame_Shift_Del_p.T1304fs|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Del_p.T734fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1309					DNA repair|G2/M transition of mitotic cell cycle|cell division|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)		CCCTAAGAGCACCCCCACCCC	0.662													-	117280511	C	-	117280511	7	5	193	1	0	1	0	1	0	0	0	0	3249	507	18	0	4036	0	CEP164	11	117280511	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	573701	117280511	17726005	1014	106247											
DSCAML1	57453	broad.mit.edu	37	chr11	117389401	117389401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcggggcgcccttggcCgcacacatcagtgagaactg	17	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:117389401C>T	uc001prh.1	-	7	1472	c.1470G>A	c.(1468-1470)GCG>GCA	p.A490A	DSCAML1_uc001pri.1_Silent_p.A294A	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	430	Extracellular (Potential).|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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		CGCCCTTGGCCGCACACATCA	0.672													T	117389401	C	T	117389401	2	4	193	1	0	0	0	0	0	0	0	1	4769	639	23	1		1	DSCAML1	11	117389401	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	108890	117389401	17617115	1015	106248											
AMICA1	120425	broad.mit.edu	37	chr11	118074193	118074193	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatggttttcttgaacaccAggttccctaggtggatactg	10	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118074193A>T	uc001psk.2	-	6	896	c.722T>A	c.(721-723)CTG>CAG	p.L241Q	AMICA1_uc001psg.2_Missense_Mutation_p.L51Q|AMICA1_uc001psh.2_Missense_Mutation_p.L202Q|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.L231Q|AMICA1_uc001psj.2_Missense_Mutation_p.L230Q|AMICA1_uc010rxw.1_Missense_Mutation_p.L202Q|AMICA1_uc010rxx.1_Missense_Mutation_p.L241Q|AMICA1_uc001psl.1_Missense_Mutation_p.L197Q	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	241	Ig-like V-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTTGAACACCAGGTTCCCTAG	0.527													T	118074193	A	T	118074193	3	4	193	1	0	0	0	0	1	0	0	0	574	188	7	5	482	5	AMICA1	11	118074193	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	684792	118074193	16932323	1016	106249											
AMICA1	120425	broad.mit.edu	37	chr11	118074310	118074310	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttcacacgattctggAagtggccccagctctgggag	13	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118074310A>T	uc001psk.2	-	6	779	c.605T>A	c.(604-606)TTC>TAC	p.F202Y	AMICA1_uc001psg.2_Missense_Mutation_p.F12Y|AMICA1_uc001psh.2_Missense_Mutation_p.F163Y|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.F192Y|AMICA1_uc001psj.2_Missense_Mutation_p.F191Y|AMICA1_uc010rxw.1_Missense_Mutation_p.F163Y|AMICA1_uc010rxx.1_Missense_Mutation_p.F202Y|AMICA1_uc001psl.1_Missense_Mutation_p.F158Y	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	202	Ig-like V-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACGATTCTGGAAGTGGCCCCA	0.473													T	118074310	A	T	118074310	3	4	193	1	0	0	0	0	1	0	0	0	574	246	9	5	599	5	AMICA1	11	118074310	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	117	118074310	16932206	1017	106250											
CD3E	916	broad.mit.edu	37	chr11	118184512	118184512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcttgctgctgctggTttactactggagcaagaata	14	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118184512T>C	uc001psq.3	+	7	699	c.443T>C	c.(442-444)GTT>GCT	p.V148A		NM_000733	NP_000724	P07766	CD3E_HUMAN	CD3E antigen, epsilon polypeptide precursor	148	Helical; (Potential).				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			ovary(2)	2	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CTGCTGCTGGTTTACTACTGG	0.567													C	118184512	T	C	118184512	3	2	193	1	0	0	0	0	1	0	0	0	3011	1725	60	3	465	3	CD3E	11	118184512	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	110202	118184512	16822004	1018	106251											
MLL	4297	broad.mit.edu	37	chr11	118354898	118354898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatcttttgtctccttagGaaaaaccacctccggtcaat	5	12	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118354898G>A	uc001pta.2	+	9	4110	c.4087G>A	c.(4087-4089)GAA>AAA	p.E1363K	MLL_uc001ptb.2_Missense_Mutation_p.E1363K|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Missense_Mutation_p.E64K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1363		Breakpoint for translocation to form MLL- AF3P21 and MLL-CASC5 oncogenes.|Breakpoint for translocation to form MLL- CENPK oncogene.			apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTCTCCTTAGGAAAAACCACC	0.368			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118354898	G	A	118354898	3	1	193	1	0	0	0	0	1	0	0	0	9620	1188	41	4	4121	4	MLL	11	118354898	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	170386	118354898	16651618	1019	106252											
BCL9L	283149	broad.mit.edu	37	chr11	118771337	118771337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgactcaccctgttccaTgttgctcagggtggtggaag	12	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118771337T>G	uc001pug.2	-	6	4080	c.3115A>C	c.(3115-3117)ATG>CTG	p.M1039L	BCL9L_uc009zal.2_Missense_Mutation_p.M1034L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1039	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			ovary(1)|pancreas(1)	2	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)		CCCTGTTCCATGTTGCTCAGG	0.512													G	118771337	T	G	118771337	3	3	193	1	0	0	0	0	1	0	0	0	1382	1464	51	5	1396	5	BCL9L	11	118771337	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	416439	118771337	16235179	1020	106253											
BCL9L	283149	broad.mit.edu	37	chr11	118779296	118779296	+	Frame_Shift_Del	DEL	G	G	-													gcattggcttggctggggcaGgggggcaatgaccgcggggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:118779295_118779295AG>A	uc001pug.3	-	1	1061	c.96_96CT>T	c.(94-96)cctfs	p.P32fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.P27fs|MIR4492_uc021qrh.1_5'Flank	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	32					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)		TGGCTGGGGCAGGGGGGCAAT	0.587													-	118779296	G	-	118779296	7	5	193	1	0	1	0	1	0	0	0	0	1382	1000	35	0	4432	0	BCL9L	11	118779296	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	7959	118779296	16227220	1021	106254											
TECTA	7007	broad.mit.edu	37	chr11	121036077	121036077	+	Frame_Shift_Del	DEL	C	C	-													tgtgtggctgcatcgagccaCccccctatggaaatagtgag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:121036077delC	uc010rzo.1	+	16	5368	c.5368delC	c.(5368-5370)CCCfs	p.P1790fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1790					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CATCGAGCCACCCCCCTATGG	0.592													-	121036077	C	-	121036077	7	5	193	1	0	1	0	1	0	0	0	0	15744	507	18	0	5430	0	TECTA	11	121036077	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	2256781	121036077	13970439	1022	106255											
UBASH3B	84959	broad.mit.edu	37	chr11	122526825	122526825	+	Frame_Shift_Del	DEL	C	C	-													ggagctgtacagcaaagtcaCcccccggaggaaccgccaac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:122526825delC	uc001pyi.3	+	1	428	c.68delC	c.(67-69)ACCfs	p.T23fs		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	23						cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCAAAGTCACCCCCCGGAGG	0.672													-	122526825	C	-	122526825	7	5	193	1	0	1	0	1	0	0	0	0	16837	507	18	0	70	0	UBASH3B	11	122526825	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1490748	122526825	12479691	1023	106256											
OR8D4	338662	broad.mit.edu	37	chr11	123777411	123777411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttatgcagagatagatcCatctcctattctggatgcat	7	8	2	2	rs150083489		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:123777411C>T	uc010saa.1	+	1	273	c.273C>T	c.(271-273)TCC>TCT	p.S91S		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		GAGATAGATCCATCTCCTATT	0.403													T	123777411	C	T	123777411	2	4	193	1	0	0	0	0	0	0	0	1	11233	581	21	4		4	OR8D4	11	123777411	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1250586	123777411	11229105	1024	106257											
STT3A	3703	broad.mit.edu	37	chr11	125478022	125478022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtcctttcatcagagCacatggcagcctttggggtc	11	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:125478022C>T	uc001qcd.2	+	9	909	c.799C>T	c.(799-801)CAC>TAC	p.H267Y	STT3A_uc009zbm.2_Missense_Mutation_p.H267Y|STT3A_uc001qce.2_Missense_Mutation_p.H267Y|STT3A_uc010sbg.1_Missense_Mutation_p.H175Y|STT3A_uc009zbn.2_Missense_Mutation_p.H41Y	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	267	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCATCAGAGCACATGGCAGC	0.428													T	125478022	C	T	125478022	3	4	193	1	0	0	0	0	1	0	0	0	15332	710	25	2	829	2	STT3A	11	125478022	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1700611	125478022	9528494	1025	106258											
PUS3	83480	broad.mit.edu	37	chr11	125765842	125765842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttatctgttctcccacatCggtgatagttggatgtctgt	9	9	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:125765842C>T	uc001qcy.2	-	2	436	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	113						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TCTCCCACATCGGTGATAGTT	0.408													T	125765842	C	T	125765842	3	4	193	1	0	0	0	0	1	0	0	0	12832	884	31	1	1119	1	PUS3	11	125765842	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	287820	125765842	9240674	1026	106259											
PRDM10	56980	broad.mit.edu	37	chr11	129784663	129784663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggccagacgccgactgcGacacagggatgtactgaatt	14	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:129784663G>A	uc001qfm.2	-	18	3021	c.2789C>T	c.(2788-2790)TCG>TTG	p.S930L	PRDM10_uc001qfj.2_Missense_Mutation_p.S844L|PRDM10_uc001qfk.2_Missense_Mutation_p.S840L|PRDM10_uc001qfl.2_Missense_Mutation_p.S844L|PRDM10_uc010sbx.1_Missense_Mutation_p.S840L|PRDM10_uc001qfn.2_Missense_Mutation_p.S926L|PRDM10_uc009zcs.1_Missense_Mutation_p.S113L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	930	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		CGCCGACTGCGACACAGGGAT	0.542													A	129784663	G	A	129784663	3	1	193	1	0	0	0	0	1	0	0	0	12451	1059	37	1	713	1	PRDM10	11	129784663	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4018821	129784663	5221853	1027	106260											
APLP2	334	broad.mit.edu	37	chr11	129993525	129993525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtctgctcccaggaggCgatgacggggccctgccggg	17	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:129993525C>T	uc010sby.1	+	7	1098	c.941C>T	c.(940-942)GCG>GTG	p.A314V	APLP2_uc001qfp.2_Missense_Mutation_p.A314V|APLP2_uc001qfq.2_Intron|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Intron|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Intron	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	314	BPTI/Kunitz inhibitor.|Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		TCCCAGGAGGCGATGACGGGG	0.587													T	129993525	C	T	129993525	3	4	193	1	0	0	0	0	1	0	0	0	779	768	27	1	967	1	APLP2	11	129993525	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	208862	129993525	5012991	1028	106261											
SNX19	399979	broad.mit.edu	37	chr11	130784286	130784286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcttaggggctcaaagcTgaaggtggctgagctgagag	16	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:130784286T>C	uc001qgk.3	-	1	2097	c.1549A>G	c.(1549-1551)AGC>GGC	p.S517G	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.S517G|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	517					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCTCAAAGCTGAAGGTGGCT	0.537													C	130784286	T	C	130784286	3	2	193	1	0	0	0	0	1	0	0	0	14890	1580	55	3	1473	3	SNX19	11	130784286	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	790761	130784286	4222230	1029	106262											
NCAPD3	23310	broad.mit.edu	37	chr11	134050984	134050984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttaccaacaggtcttcGtccatattccctgttccatt	5	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:134050984G>A	uc001qhd.1	-	20	3153	c.2547C>T	c.(2545-2547)GAC>GAT	p.D849D	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	849					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		ACAGGTCTTCGTCCATATTCC	0.468													A	134050984	G	A	134050984	2	1	193	1	0	0	0	0	0	0	0	1	10206	1136	40	1		1	NCAPD3	11	134050984	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3266698	134050984	955532	1030	106263											
NCAPD3	23310	broad.mit.edu	37	chr11	134079287	134079287	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaaaaattctttaaaaggtGaaagatggcatttcgaattt	7	3	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:134079287G>A	uc001qhd.1	-	5	1258	c.652C>T	c.(652-654)CAC>TAC	p.H218Y	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	218					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		TTTAAAAGGTGAAAGATGGCA	0.333													A	134079287	G	A	134079287	3	1	193	1	0	0	0	0	1	0	0	0	10206	1290	45	4	3968	4	NCAPD3	11	134079287	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	28303	134079287	927229	1031	106264											
THYN1	29087	broad.mit.edu	37	chr11	134118831	134118831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatgaaacgtttcatcAtccgaacaaactgtacatcc	8	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr11:134118831A>G	uc001qhf.2	-	7	605	c.503T>C	c.(502-504)ATG>ACG	p.M168T	THYN1_uc001qhg.2_Missense_Mutation_p.M168T|THYN1_uc001qhh.2_Missense_Mutation_p.M168T|THYN1_uc001qhi.2_Intron|THYN1_uc001qhj.2_Intron	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	168						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		ACGTTTCATCATCCGAACAAA	0.463													G	134118831	A	G	134118831	3	3	193	1	0	0	0	0	1	0	0	0	15883	217	8	3	182	3	THYN1	11	134118831	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	39544	134118831	887685	1032	106265											
EFCAB4B	84766	broad.mit.edu	37	chr12	3757704	3757704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggccagtgcccaccgacGcaccttaggaaatccagctg	10	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:3757704G>A	uc001qmj.2	-	11	1694	c.1122C>T	c.(1120-1122)TGC>TGT	p.C374C	EFCAB4B_uc010sen.1_Intron|EFCAB4B_uc010seo.1_Intron|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	374					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GCCCACCGACGCACCTTAGGA	0.597													A	3757704	G	A	3757704	2	1	193	1	0	0	0	0	0	0	0	1	4937	1079	38	1		1	EFCAB4B	12	3757704	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08		3757704	130094191	1033	106266											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424299	6424299	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgacagtggcctgaccatCgagaagtcctggagggagct	16	10	0	2	rs143574959		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:6424299C>T	uc001qnr.2	+	4	571	c.423C>T	c.(421-423)ATC>ATT	p.I141I	PLEKHG6_uc001qns.2_Silent_p.I141I|PLEKHG6_uc010sew.1_Silent_p.I141I|PLEKHG6_uc010sex.1_Silent_p.I109I	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	141					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.I141I(1)		large_intestine(1)|skin(1)	2						GCCTGACCATCGAGAAGTCCT	0.612													T	6424299	C	T	6424299	2	4	193	1	0	0	0	0	0	0	0	1	12074	874	31	1		1	PLEKHG6	12	6424299	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2666595	6424299	127427596	1034	106267											
LTBR	4055	broad.mit.edu	37	chr12	6497628	6497630	+	In_Frame_Del	DEL	CTC	CTC	-													ctgctccttgccaccgtcttCtcctgcatctggaagagcca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:6497628_6497630delCTC	uc001qny.1	+	7	900_902	c.732_734delCTC	c.(730-735)TTCTCC>TTC	p.S245del	LTBR_uc010sfc.1_In_Frame_Del_p.S226del|LTBR_uc001qnz.1_In_Frame_Del_p.S240del	NM_002342	NP_002333	P36941	TNR3_HUMAN	lymphotoxin beta receptor precursor	245	Helical; (Potential).				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			lung(2)	2						CCACCGTCTTCTCCTGCATCTGG	0.576													-	6497630	CTC	-	6497628	7	5	193	1	0	1	0	1	0	0	0	0	9077	912	32	0	758	0	LTBR	12	6497628	In_Frame_Del	DEL	CTC	TCGA-CG-5726-01A-11D-1600-08	73329	6497628	127354267	1035	106268											
CD4	920	broad.mit.edu	37	chr12	6926429	6926429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtgggtgctgaacccTgaggcggggatgtggcagtg	21	7	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:6926429T>C	uc001qqv.1	+	7	1334	c.1089T>C	c.(1087-1089)CCT>CCC	p.P363P	CD4_uc010sfj.1_Silent_p.P90P|CD4_uc009zfc.1_Silent_p.P184P|CD4_uc010sfk.1_Silent_p.P90P|CD4_uc010sfl.1_Silent_p.P90P|CD4_uc010sfm.1_Silent_p.P90P	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	363	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				TGCTGAACCCTGAGGCGGGGA	0.587													C	6926429	T	C	6926429	2	2	193	1	0	0	0	0	0	0	0	1	3014	1567	55	3		3	CD4	12	6926429	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	428801	6926429	126925466	1036	106269											
CD163	9332	broad.mit.edu	37	chr12	7651478	7651478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttacttgagcaaatcactCcagcatcctcagcatgatca	5	14	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:7651478C>A	uc001qsz.3	-	4	892	c.764G>T	c.(763-765)GGA>GTA	p.G255V	CD163_uc001qta.3_Missense_Mutation_p.G255V|CD163_uc009zfw.2_Missense_Mutation_p.G255V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	255	SRCR 2.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GCAAATCACTCCAGCATCCTC	0.418													A	7651478	C	A	7651478	3	1	193	1	0	0	0	0	1	0	0	0	2967	855	30	5	2758	5	CD163	12	7651478	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	725049	7651478	126200417	1037	106270											
A2ML1	144568	broad.mit.edu	37	chr12	9020604	9020604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggataccctgcccaatgtccCtggaatgtacacgttggagg	12	11	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:9020604C>A	uc001quz.3	+	30	3982	c.3884C>A	c.(3883-3885)CCT>CAT	p.P1295H	A2ML1_uc001qva.1_Missense_Mutation_p.P875H|A2ML1_uc010sgm.1_Missense_Mutation_p.P795H|A2ML1_uc001qvb.1_RNA	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1139						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CCCAATGTCCCTGGAATGTAC	0.483													A	9020604	C	A	9020604	3	1	193	1	0	0	0	0	1	0	0	0	5	681	24	5	4002	5	A2ML1	12	9020604	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1369126	9020604	124831291	1038	106271											
GABARAPL1	23710	broad.mit.edu	37	chr12	10373153	10373153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccatgggccaactgtAtgaggtaatggttctggttg	13	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:10373153A>G	uc001qxs.2	+	3	524	c.284A>G	c.(283-285)TAT>TGT	p.Y95C	GABARAPL1_uc010shb.1_Missense_Mutation_p.Y95C|GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	95						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						GGCCAACTGTATGAGGTAATG	0.488													G	10373153	A	G	10373153	3	3	193	1	0	0	0	0	1	0	0	0	6153	449	16	3	294	3	GABARAPL1	12	10373153	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1352549	10373153	123478742	1039	106272											
KLRC1	3821	broad.mit.edu	37	chr12	10601870	10601870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatctatagaaagcagactgGagttcttcgaagtacaggcc	10	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:10601870G>T	uc001qyl.2	-	5	619	c.455C>A	c.(454-456)TCC>TAC	p.S152Y	KLRC1_uc009zhm.1_Missense_Mutation_p.S152Y|KLRC1_uc001qym.2_Missense_Mutation_p.S134Y|KLRC1_uc001qyn.2_Missense_Mutation_p.S152Y|KLRC1_uc001qyo.2_Missense_Mutation_p.S134Y	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	152	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AAGCAGACTGGAGTTCTTCGA	0.303													T	10601870	G	T	10601870	3	4	193	1	0	0	0	0	1	0	0	0	8415	1174	41	5	258	5	KLRC1	12	10601870	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	228717	10601870	123250025	1040	106273											
TAS2R43	259289	broad.mit.edu	37	chr12	11244407	11244407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcacaaaaagatgacaaGccaaaaatagcaaaggcccc	6	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:11244407G>A	uc001qzq.1	-	1	506	c.422C>T	c.(421-423)GCT>GTT	p.A141V	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	141	Helical; Name=4; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AAGATGACAAGCCAAAAATAG	0.358													A	11244407	G	A	11244407	3	1	193	1	0	0	0	0	1	0	0	0	15578	971	34	2	511	2	TAS2R43	12	11244407	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	642537	11244407	122607488	1041	106274											
ATF7IP	55729	broad.mit.edu	37	chr12	14650648	14650649	+	Frame_Shift_Ins	INS	-	-	C													tccacaaccacagcgtctgcINSccccagaagctgccagcaca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:14650647_14650648G>GC	uc001rbw.3	+	14	3611_3612	c.3453_3454G>GC	c.(3451-3456)ctgcccfs	p.L1151fs	ATF7IP_uc001rbx.3_Frame_Shift_Ins_p.L1150fs|ATF7IP_uc001rby.4_Frame_Shift_Ins_p.L1151fs|ATF7IP_uc001rca.3_Frame_Shift_Ins_p.L1151fs	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1151					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						CACAGCGTCTGCCCCCAGAAGC	0.53													C	14650649	-	C	14650648	7	5	193	1	0	1	1	0	0	0	0	0	1087	739	26	0	3508	0	ATF7IP	12	14650648	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	3406241	14650648	119201247	1042	106275											
ATF7IP	55729	broad.mit.edu	37	chr12	14650878	14650878	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccttgcccatggcatgTactctcacccagtttgtatc	6	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:14650878T>C	uc001rbw.2	+	15	3842	c.3684T>C	c.(3682-3684)TGT>TGC	p.C1228C	ATF7IP_uc001rbx.2_Silent_p.C1227C|ATF7IP_uc001rby.3_Silent_p.C1228C|ATF7IP_uc001rca.2_Silent_p.C1228C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1228	Interaction with MBD1.|Fibronectin type-III.				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			lung(3)|ovary(1)|skin(1)	5						CCATGGCATGTACTCTCACCC	0.478													C	14650878	T	C	14650878	2	2	193	1	0	0	0	0	0	0	0	1	1087	1644	57	3		3	ATF7IP	12	14650878	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	230	14650878	119201017	1043	106276											
KIAA0528	9847	broad.mit.edu	37	chr12	22631335	22631335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtgttgttcatatgagCcatcattaggagtcttccca	9	8	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:22631335C>T	uc001rfq.2	-	15	2042	c.1814G>A	c.(1813-1815)GGC>GAC	p.G605D	KIAA0528_uc010sir.1_Missense_Mutation_p.G420D|KIAA0528_uc010sis.1_Missense_Mutation_p.G605D|KIAA0528_uc010sit.1_Missense_Mutation_p.G607D|KIAA0528_uc010siu.1_Missense_Mutation_p.G605D|KIAA0528_uc001rfr.2_Missense_Mutation_p.G596D|KIAA0528_uc009ziy.1_Missense_Mutation_p.G607D	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	605							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TTCATATGAGCCATCATTAGG	0.363													T	22631335	C	T	22631335	3	4	193	1	0	0	0	0	1	0	0	0	8182	739	26	2	1232	2	KIAA0528	12	22631335	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	7980457	22631335	111220560	1044	106277											
LRMP	4033	broad.mit.edu	37	chr12	25232195	25232195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaatggtgttgaacgCgtgtgtcctgagagcctgct	15	7	0	3	rs114104872	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:25232195C>T	uc001rgh.2	+	6	1076	c.42C>T	c.(40-42)CGC>CGT	p.R14R	LRMP_uc001rgg.1_RNA|LRMP_uc010sja.1_Silent_p.R14R|LRMP_uc010sjb.1_5'UTR|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Silent_p.R14R|LRMP_uc010sjd.1_5'UTR	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70	Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373													T	25232195	C	T	25232195	2	4	193	1	0	0	0	0	0	0	0	1	8950	755	27	1		1	LRMP	12	25232195	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2600860	25232195	108619700	1045	106278											
PPFIBP1	8496	broad.mit.edu	37	chr12	27820253	27820253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacacaagtgttcccgaagaGgtattaatagactttcagta	8	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:27820253G>T	uc001ric.1	+	13	1574	c.1197G>T	c.(1195-1197)GAG>GAT	p.E399D	PPFIBP1_uc010sjr.1_Missense_Mutation_p.E230D|PPFIBP1_uc001rib.1_Missense_Mutation_p.E382D|PPFIBP1_uc001ria.2_Missense_Mutation_p.E368D|PPFIBP1_uc001rid.1_Missense_Mutation_p.E246D	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	399	Potential.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTCCCGAAGAGGTATTAATAG	0.403													T	27820253	G	T	27820253	3	4	193	1	0	0	0	0	1	0	0	0	12313	1014	35	5	1230	5	PPFIBP1	12	27820253	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2588058	27820253	106031642	1046	106279											
ALG10	84920	broad.mit.edu	37	chr12	34179326	34179326	+	Frame_Shift_Del	DEL	T	T	-													actttttttcatttactctcTttttttcctttcctcatctc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:34179325_34179325CT>C	uc001rlm.3	+	2	1216	c.897_897CT>C	c.(895-897)ctcfs	p.L299fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	299					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	p.L299F(1)		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)				CATTTACTCTCTTTTTTTCCT	0.348													-	34179326	T	-	34179326	7	5	193	1	0	1	0	1	0	0	0	0	511	1609	56	0	908	0	ALG10	12	34179326	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	6359073	34179326	99672569	1047	106280											
KIF21A	55605	broad.mit.edu	37	chr12	39763645	39763645	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagctcgagaaataatAcccagttcttcctcaacaat	4	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:39763645A>G	uc001rly.2	-	3	482	c.336T>C	c.(334-336)GGT>GGC	p.G112G	KIF21A_uc001rlx.2_Silent_p.G112G|KIF21A_uc001rlz.2_Silent_p.G112G|KIF21A_uc010skl.1_Silent_p.G112G|KIF21A_uc001rma.1_Silent_p.G112G	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	112	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				GAGAAATAATACCCAGTTCTT	0.343													G	39763645	A	G	39763645	2	3	193	1	0	0	0	0	0	0	0	1	8288	378	14	3		3	KIF21A	12	39763645	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	5584319	39763645	94088250	1048	106281											
CNTN1	1272	broad.mit.edu	37	chr12	41408095	41408095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagagctgaccataacaTgggcggtaagtattgatgag	13	6	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:41408095T>C	uc001rmm.1	+	18	2292	c.2179T>C	c.(2179-2181)TGG>CGG	p.W727R	CNTN1_uc001rmn.1_Missense_Mutation_p.W716R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	727	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	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)				GACCATAACATGGGCGGTAAG	0.378													C	41408095	T	C	41408095	3	2	193	1	0	0	0	0	1	0	0	0	3640	1464	51	3	2245	3	CNTN1	12	41408095	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1644450	41408095	92443800	1049	106282											
PDZRN4	29951	broad.mit.edu	37	chr12	41967474	41967474	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgtgagttcatgatgCgaagcaggttagagtgtctc	14	8	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:41967474C>T	uc010skn.1	+	10	2364	c.2296C>T	c.(2296-2298)CGA>TGA	p.R766*	PDZRN4_uc001rmq.3_Nonsense_Mutation_p.R707*|PDZRN4_uc009zjz.2_Nonsense_Mutation_p.R705*|PDZRN4_uc001rmr.2_Nonsense_Mutation_p.R592*	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	965							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTTCATGATGCGAAGCAGGTT	0.507													T	41967474	C	T	41967474	4	4	193	1	0	0	0	0	0	1	0	0	11710	760	27	1	3004	1	PDZRN4	12	41967474	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	559379	41967474	91884421	1050	106283											
PPHLN1	51535	broad.mit.edu	37	chr12	42835202	42835202	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attagaaaagtctatacagtTtgcattgaggcagaatttac	8	5	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:42835202T>A	uc001rng.1	+	10	1100	c.995T>A	c.(994-996)TTT>TAT	p.F332Y	PPHLN1_uc001rmy.2_Missense_Mutation_p.F350Y|PPHLN1_uc001rne.2_Missense_Mutation_p.F320Y|PPHLN1_uc001rnb.2_Missense_Mutation_p.F339Y|PPHLN1_uc001rnd.2_Missense_Mutation_p.F284Y|PPHLN1_uc001rnc.2_Missense_Mutation_p.F332Y|PPHLN1_uc001rnf.2_Missense_Mutation_p.F313Y|PPHLN1_uc010skq.1_Missense_Mutation_p.F258Y|PPHLN1_uc010skr.1_Missense_Mutation_p.F277Y|PPHLN1_uc010sks.1_Missense_Mutation_p.F258Y|PPHLN1_uc010skt.1_Missense_Mutation_p.F212Y|PPHLN1_uc001rni.1_Missense_Mutation_p.F277Y|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Missense_Mutation_p.F265Y	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	332					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TCTATACAGTTTGCATTGAGG	0.378													A	42835202	T	A	42835202	3	1	193	1	0	0	0	0	1	0	0	0	12315	1841	64	5	1066	5	PPHLN1	12	42835202	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	867728	42835202	91016693	1051	106284											
ANO6	196527	broad.mit.edu	37	chr12	45784262	45784262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatacggataaccctctgtgCcagtgctgtctttttctggg	10	10	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:45784262C>T	uc001roo.2	+	12	1702	c.1367C>T	c.(1366-1368)GCC>GTC	p.A456V	ANO6_uc010sld.1_Missense_Mutation_p.A456V|ANO6_uc010sle.1_Missense_Mutation_p.A456V|ANO6_uc010slf.1_Missense_Mutation_p.A477V|ANO6_uc010slg.1_Missense_Mutation_p.A438V	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	456	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						ACCCTCTGTGCCAGTGCTGTC	0.299													T	45784262	C	T	45784262	3	4	193	1	0	0	0	0	1	0	0	0	701	739	26	2	1433	2	ANO6	12	45784262	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2949060	45784262	88067633	1052	106285											
C12orf41	54934	broad.mit.edu	37	chr12	49048764	49048764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatttctttgactaaaTgatcttcaagggttagtgaa	8	6	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49048764T>C	uc001rrx.2	-	9	1382	c.1307A>G	c.(1306-1308)CAT>CGT	p.H436R	C12orf41_uc001rrw.2_Missense_Mutation_p.H207R|C12orf41_uc001rrz.2_Missense_Mutation_p.H619R|C12orf41_uc001rry.2_RNA|C12orf41_uc001rru.2_Missense_Mutation_p.H67R|C12orf41_uc001rrv.2_Missense_Mutation_p.H120R|SNORA34_uc001rsa.1_5'Flank|MIR1291_hsa-mir-1291|MI0006353_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	hypothetical protein LOC54934	436										ovary(2)	2						TTTGACTAAATGATCTTCAAG	0.453													C	49048764	T	C	49048764	3	2	193	1	0	0	0	0	1	0	0	0	1687	1464	51	3	179	3	C12orf41	12	49048764	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3264502	49048764	84803131	1053	106286											
ADCY6	112	broad.mit.edu	37	chr12	49169835	49169835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccttccatggagttggcccGagtccgctgcagcttggcca	12	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49169835G>A	uc001rsh.3	-	8	2377	c.1717C>T	c.(1717-1719)CGG>TGG	p.R573W	ADCY6_uc001rsj.3_Missense_Mutation_p.R573W|ADCY6_uc001rsi.3_Missense_Mutation_p.R573W|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	573	Cytoplasmic (Potential).				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	ATP binding|metal ion binding				0						GAGTTGGCCCGAGTCCGCTGC	0.652													A	49169835	G	A	49169835	3	1	193	1	0	0	0	0	1	0	0	0	298	1057	37	1	1845	1	ADCY6	12	49169835	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	121071	49169835	84682060	1054	106287											
DDX23	9416	broad.mit.edu	37	chr12	49230468	49230468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgctgtagtcctcacGgaagatccgccagtccctgt	12	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49230468G>A	uc001rsm.2	-	10	1211	c.1120C>T	c.(1120-1122)CGT>TGT	p.R374C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	374						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R374C(1)		kidney(3)|ovary(1)|lung(1)|skin(1)	6						TAGTCCTCACGGAAGATCCGC	0.522													A	49230468	G	A	49230468	3	1	193	1	0	0	0	0	1	0	0	0	4350	1116	39	1	1374	1	DDX23	12	49230468	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	60633	49230468	84621427	1055	106288											
MLL2	8085	broad.mit.edu	37	chr12	49425937	49425937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattccaaccccaggcagaCcctgcccagactggaggaca	10	15	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49425937C>T	uc001rta.3	-	39	12551	c.12551G>A	c.(12550-12552)GGT>GAT	p.G4184D		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4184	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCAGGCAGACCCTGCCCAGA	0.587			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49425937	C	T	49425937	3	4	193	1	0	0	0	0	1	0	0	0	9621	507	18	4	4126	4	MLL2	12	49425937	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	195469	49425937	84425958	1056	106289											
MLL2	8085	broad.mit.edu	37	chr12	49435088	49435088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggaagagctcaccaggCgagtcagggccaggcaccga	15	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:49435088C>T	uc001rta.3	-	31	6465	c.6465G>A	c.(6463-6465)TCG>TCA	p.S2155S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2155	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCTCACCAGGCGAGTCAGGGC	0.682			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49435088	C	T	49435088	2	4	193	1	0	0	0	0	0	0	0	1	9621	755	27	1		1	MLL2	12	49435088	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	9151	49435088	84416807	1057	106290											
DIP2B	57609	broad.mit.edu	37	chr12	51112539	51112539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatctggttgctggaaaaCgtatagcacaagctgctgga	13	7	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:51112539C>T	uc001rwv.2	+	24	3055	c.2899C>T	c.(2899-2901)CGT>TGT	p.R967C	DIP2B_uc009zlt.2_Missense_Mutation_p.R397C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	967						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TGCTGGAAAACGTATAGCACA	0.448													T	51112539	C	T	51112539	3	4	193	1	0	0	0	0	1	0	0	0	4528	536	19	1	2993	1	DIP2B	12	51112539	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1677451	51112539	82739356	1058	106291											
KRT18	3875	broad.mit.edu	37	chr12	53344642	53344642	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagctggagacagagatCgaggctctcaaggaggagct	15	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:53344642C>T	uc001sbe.2	+	4	678	c.609C>T	c.(607-609)ATC>ATT	p.I203I	KRT18_uc009zmn.1_Silent_p.I203I|KRT18_uc001sbf.1_Silent_p.I30I|KRT18_uc001sbg.2_Silent_p.I203I|KRT18_uc009zmo.2_Silent_p.I203I|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Rod.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						AGACAGAGATCGAGGCTCTCA	0.572													T	53344642	C	T	53344642	2	4	193	1	0	0	0	0	0	0	0	1	8455	874	31	1		1	KRT18	12	53344642	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2232103	53344642	80507253	1059	106292											
ESPL1	9700	broad.mit.edu	37	chr12	53679780	53679780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggaagcagcaggcccAggtcccctgtcctccacagc	13	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:53679780A>G	uc001sck.2	+	18	3351	c.3260A>G	c.(3259-3261)CAG>CGG	p.Q1087R	ESPL1_uc001scj.2_Missense_Mutation_p.Q762R|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1087					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			lung(1)|kidney(1)|skin(1)	3						CAGCAGGCCCAGGTCCCCTGT	0.597													G	53679780	A	G	53679780	3	3	193	1	0	0	0	0	1	0	0	0	5253	188	7	3	3326	3	ESPL1	12	53679780	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	335138	53679780	80172115	1060	106293											
ESPL1	9700	broad.mit.edu	37	chr12	53686642	53686642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgggcaggctgtcctgCggctgagctgtcgggcagtg	18	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:53686642C>T	uc001sck.2	+	30	6140	c.6049C>T	c.(6049-6051)CGG>TGG	p.R2017W	ESPL1_uc001scj.2_Missense_Mutation_p.R1692W|PFDN5_uc001scl.2_5'Flank|PFDN5_uc001scm.2_5'Flank|PFDN5_uc001scn.2_5'Flank|PFDN5_uc001sco.2_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	2017					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			lung(1)|kidney(1)|skin(1)	3						GGCTGTCCTGCGGCTGAGCTG	0.612													T	53686642	C	T	53686642	3	4	193	1	0	0	0	0	1	0	0	0	5253	759	27	1	6163	1	ESPL1	12	53686642	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6862	53686642	80165253	1061	106294											
OR6C74	254783	broad.mit.edu	37	chr12	55641767	55641767	+	Frame_Shift_Del	DEL	A	A	-													ataccttcttctcaacagagAaaaaaagcattttctacatg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:55641767delA	uc010spg.1	+	1	696	c.696delA	c.(694-696)AGAfs	p.R232fs		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CTCAACAGAGAAAAAAAGCAT	0.398													-	55641767	A	-	55641767	7	5	193	1	0	1	0	1	0	0	0	0	11198	243	9	0	698	0	OR6C74	12	55641767	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1955125	55641767	78210128	1062	106295											
ERBB3	2065	broad.mit.edu	37	chr12	56482369	56482369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgtgtcagggcctgtcCtcctgacaagatggaagtag	12	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:56482369C>A	uc001sjh.2	+	8	1110	c.917C>A	c.(916-918)CCT>CAT	p.P306H	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.P247H|ERBB3_uc001sji.2_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	306	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGGGCCTGTCCTCCTGACAAG	0.478													A	56482369	C	A	56482369	3	1	193	1	0	0	0	0	1	0	0	0	5208	681	24	5	1078	5	ERBB3	12	56482369	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	840602	56482369	77369526	1063	106296											
GLS2	27165	broad.mit.edu	37	chr12	56868375	56868375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacatgccgcaggaatgcaTgaggctgagggtgttgcgca	15	8	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:56868375T>C	uc001slj.2	-	12	1456	c.1177A>G	c.(1177-1179)ATG>GTG	p.M393V	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.M128V|GLS2_uc009zot.2_Missense_Mutation_p.M54V	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	393					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGGAATGCATGAGGCTGAGG	0.567													C	56868375	T	C	56868375	3	2	193	1	0	0	0	0	1	0	0	0	6464	1464	51	3	659	3	GLS2	12	56868375	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	386006	56868375	76983520	1064	106297											
ATP5B	506	broad.mit.edu	37	chr12	57036610	57036610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttgaccatataccagCgctacctgcagtaatcatac	5	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57036610C>T	uc001slr.2	-	6	903	c.798G>A	c.(796-798)GCG>GCA	p.A266A		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	266					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			ovary(1)	1						CATATACCAGCGCTACCTGCA	0.478													T	57036610	C	T	57036610	2	4	193	1	0	0	0	0	0	0	0	1	1148	755	27	1		1	ATP5B	12	57036610	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	168235	57036610	76815285	1065	106298											
TAC3	6866	broad.mit.edu	37	chr12	57406624	57406624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggctggacgctcctctTgcccataagtcccacaaaga	8	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57406624T>C	uc001smp.2	-	5	434	c.274A>G	c.(274-276)AAG>GAG	p.K92E	TAC3_uc001smr.2_RNA|TAC3_uc001smq.2_RNA|TAC3_uc001smt.2_RNA|TAC3_uc001sms.2_RNA|TAC3_uc010sqy.1_RNA|TAC3_uc001smu.2_Intron|TAC3_uc001smv.2_Intron|TAC3_uc001smo.2_Intron	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	tachykinin 3 precursor	92					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			ovary(1)|skin(1)	2						ACGCTCCTCTTGCCCATAAGT	0.512													C	57406624	T	C	57406624	3	2	193	1	0	0	0	0	1	0	0	0	15496	1821	63	3	99	3	TAC3	12	57406624	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	370014	57406624	76445271	1066	106299											
MYO1A	4640	broad.mit.edu	37	chr12	57432281	57432281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccagcagtcggggggcGtttgagagatgcctgcttag	17	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57432281G>A	uc001smw.3	-	17	1918	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C	MYO1A_uc010sqz.1_Missense_Mutation_p.R397C|MYO1A_uc009zpd.2_Missense_Mutation_p.R559C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	559	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			skin(4)|ovary(2)|urinary_tract(1)	7						GTCGGGGGGCGTTTGAGAGAT	0.562													A	57432281	G	A	57432281	3	1	193	1	0	0	0	0	1	0	0	0	10068	1145	40	1	1504	1	MYO1A	12	57432281	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	25657	57432281	76419614	1067	106300											
GLI1	2735	broad.mit.edu	37	chr12	57861144	57861144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggaagtcatactcacGcctcgaaaacctgaagacgc	10	13	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:57861144G>A	uc001snx.2	+	9	1019	c.941G>A	c.(940-942)CGC>CAC	p.R314H	GLI1_uc009zpq.2_Missense_Mutation_p.R186H	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	314	C2H2-type 3.				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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			TCATACTCACGCCTCGAAAAC	0.542													A	57861144	G	A	57861144	3	1	193	1	0	0	0	0	1	0	0	0	6437	1087	38	1	971	1	GLI1	12	57861144	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	428863	57861144	75990751	1068	106301											
GEFT	115557	broad.mit.edu	37	chr12	58006732	58006732	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatcctattccattgcgggCagtgaggggagtatatcggc	14	8	0	1	rs147842061		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:58006732C>A	uc001spb.2	+	2	577	c.117C>A	c.(115-117)GGC>GGA	p.G39G	GEFT_uc009zpy.2_Silent_p.G78G|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	39					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					CCATTGCGGGCAGTGAGGGGA	0.498													A	58006732	C	A	58006732	2	1	193	1	0	0	0	0	0	0	0	1	6328	697	25	5		5	GEFT	12	58006732	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	145588	58006732	75845163	1069	106302											
GNS	2799	broad.mit.edu	37	chr12	65113930	65113930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttagtgatctggtctggGtctgcagtcagattatagac	12	6	4	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:65113930G>A	uc001ssg.3	-	13	1622	c.1452C>T	c.(1450-1452)GAC>GAT	p.D484D	GNS_uc001ssf.2_Silent_p.D428D|GNS_uc010ssq.1_Silent_p.D516D|GNS_uc010ssr.1_Silent_p.D464D	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	484						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TCTGGTCTGGGTCTGCAGTCA	0.413													A	65113930	G	A	65113930	2	1	193	1	0	0	0	0	0	0	0	1	6550	1252	44	4		4	GNS	12	65113930	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7107198	65113930	68737965	1070	106303											
MDM1	56890	broad.mit.edu	37	chr12	68709980	68709980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggtcccgagaaaaatgCgtcccctgaactcgcttcct	9	13	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:68709980C>T	uc001stz.2	-	8	1195	c.1059G>A	c.(1057-1059)ACG>ACA	p.T353T	MDM1_uc010stc.1_Silent_p.T318T|MDM1_uc009zqv.1_Silent_p.T73T	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	353						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGAAAAATGCGTCCCCTGAA	0.418													T	68709980	C	T	68709980	2	4	193	1	0	0	0	0	0	0	0	1	9412	755	27	1		1	MDM1	12	68709980	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3596050	68709980	65141915	1071	106304											
LYZ	4069	broad.mit.edu	37	chr12	69744010	69744010	+	Frame_Shift_Del	DEL	A	A	-													gctactggtgtaatgatggcAaaaccccaggagcagttaat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:69744010delA	uc001suw.2	+	2	314	c.259delA	c.(259-261)AAAfs	p.K87fs		NM_000239	NP_000230	P61626	LYSC_HUMAN	lysozyme precursor	87					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding				0	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)			TAATGATGGCAAAACCCCAGG	0.408													-	69744010	A	-	69744010	7	5	193	1	0	1	0	1	0	0	0	0	9130	131	5	0	265	0	LYZ	12	69744010	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1034030	69744010	64107885	1072	106305											
KCNC2	3747	broad.mit.edu	37	chr12	75601374	75601374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcgaagagcggcccGcacacgtctgcggggcagtg	14	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:75601374G>A	uc001sxg.1	-	2	934	c.390C>T	c.(388-390)TGC>TGT	p.C130C	KCNC2_uc009zry.2_Silent_p.C130C|KCNC2_uc001sxe.2_Silent_p.C130C|KCNC2_uc001sxf.2_Silent_p.C130C|KCNC2_uc010stw.1_Silent_p.C130C	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	130	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						AGAGCGGCCCGCACACGTCTG	0.677													A	75601374	G	A	75601374	2	1	193	1	0	0	0	0	0	0	0	1	8015	1079	38	1		1	KCNC2	12	75601374	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5857364	75601374	58250521	1073	106306											
CSRP2	1466	broad.mit.edu	37	chr12	77254062	77254062	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaattccaaatagcactttAcctttccagctccaattatc	2	12	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:77254062A>G	uc001syl.1	-	4	494	c.411_splice	c.e4+1	p.K137_splice		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2						multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						ATAGCACTTTACCTTTCCAGC	0.418													G	77254062	A	G	77254062	5	3	193	1	0	0	0	0	0	0	1	0	3967	405	14	3	180	3	CSRP2	12	77254062	Splice_Site	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1652688	77254062	56597833	1074	106307											
NAV3	89795	broad.mit.edu	37	chr12	78553055	78553055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagtctaactatgacaGcggaacaaaaggtatgttca	9	7	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:78553055G>T	uc001syp.2	+	23	5031	c.4858G>T	c.(4858-4860)GCG>TCG	p.A1620S	NAV3_uc001syo.2_Missense_Mutation_p.A1620S|NAV3_uc010sub.1_Missense_Mutation_p.A1106S|NAV3_uc009zsf.2_Missense_Mutation_p.A451S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1620	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AACTATGACAGCGGAACAAAA	0.383										HNSCC(70;0.22)			T	78553055	G	T	78553055	3	4	193	1	0	0	0	0	1	0	0	0	10185	971	34	5	4948	5	NAV3	12	78553055	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1298993	78553055	55298840	1075	106308											
PPFIA2	8499	broad.mit.edu	37	chr12	81839361	81839364	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													atccaaggccttgtggtgctCaaacaaagatttcagtgcct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:81839361_81839364delCAAA	uc001szo.1	-	6	702_705	c.541_544delTTTG	c.(541-546)TTTGAGfs	p.F181fs	PPFIA2_uc010sue.1_Frame_Shift_Del_p.F81fs|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	107_108										ovary(3)|lung(2)|pancreas(1)	6						TTGTGGTGCTCAAACAAAGATTTC	0.422													-	81839364	CAAA	-	81839361	7	5	193	1	0	1	0	1	0	0	0	0	12310	835	29	0	3337	0	PPFIA2	12	81839361	Frame_Shift_Del	DEL	CAAA	TCGA-CG-5726-01A-11D-1600-08	3286306	81839361	52012534	1076	106309											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518280	85518280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggaatcaccaaaatatTgagcctagtgaaaaaatgta	8	6	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:85518280T>C	uc001tac.2	+	17	4101	c.3990T>C	c.(3988-3990)ATT>ATC	p.I1330I	LRRIQ1_uc001tab.1_Silent_p.I1330I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1330										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ACCAAAATATTGAGCCTAGTG	0.323													C	85518280	T	C	85518280	2	2	193	1	0	0	0	0	0	0	0	1	9029	1800	63	3		3	LRRIQ1	12	85518280	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3678919	85518280	48333615	1077	106310											
LRRIQ1	84125	broad.mit.edu	37	chr12	85638604	85638604	+	Frame_Shift_Del	DEL	T	T	-													agaagacacggatttagaccTtttttccatgaccaatggaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:85638603_85638603CT>C	uc001tac.3	+	26	5164	c.5053_5053CT>C	c.(5053-5055)cttfs	p.L1685fs		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1685										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)		GGATTTAGACCTTTTTTCCAT	0.403													-	85638604	T	-	85638604	7	5	193	1	0	1	0	1	0	0	0	0	9029	1609	56	0	5160	0	LRRIQ1	12	85638604	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	120324	85638604	48213291	1078	106311											
EPYC	1833	broad.mit.edu	37	chr12	91371989	91371989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttctcaggctgtgggggTggagtgaggagctctctgtt	17	8	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:91371989T>C	uc001tbk.2	-	3	309	c.216A>G	c.(214-216)CCA>CCG	p.P72P		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	72					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						GCTGTGGGGGTGGAGTGAGGA	0.498											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	91371989	T	C	91371989	2	2	193	1	0	0	0	0	0	0	0	1	5201	1683	59	3		3	EPYC	12	91371989	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	5733385	91371989	42479906	1079	106312											
GOLGA2B	55592	broad.mit.edu	37	chr12	100551322	100551322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccacagcttctccatgGccccctgcagggcctggtgg	11	17	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:100551322G>A	uc001tgs.2	-	4	718	c.274C>T	c.(274-276)CCA>TCA	p.P92S	GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.P92S|uc001tgx.2_5'Flank	NM_017600	NP_060070			golgi autoantigen, golgin subfamily a, 2-like 1												0						CTTCTCCATGGCCCCCTGCAG	0.617													A	100551322	G	A	100551322	3	1	193	1	0	0	0	0	1	0	0	0	6553	1203	42	2	172	2	GOLGA2B	12	100551322	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	9179333	100551322	33300573	1080	106313											
C12orf45	121053	broad.mit.edu	37	chr12	105388388	105388388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcccatctgaagtcaccAtagataacattaagcttccc	5	13	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:105388388A>G	uc001tlb.2	+	4	505	c.472A>G	c.(472-474)ATA>GTA	p.I158V		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	158											0						TGAAGTCACCATAGATAACAT	0.274													G	105388388	A	G	105388388	3	3	193	1	0	0	0	0	1	0	0	0	1691	217	8	3	486	3	C12orf45	12	105388388	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	4837066	105388388	28463507	1081	106314											
KIAA1033	23325	broad.mit.edu	37	chr12	105553918	105553918	+	Frame_Shift_Del	DEL	C	C	-													gaaatttctatataattgttCcccctctggtgagtatttcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:105553918delC	uc001tld.2	+	29	3139	c.3052delC	c.(3052-3054)CCCfs	p.P1018fs	KIAA1033_uc010swr.1_Frame_Shift_Del_p.P1019fs|KIAA1033_uc010sws.1_Frame_Shift_Del_p.P830fs	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	1018					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						TATAATTGTTCCCCCTCTGGT	0.343													-	105553918	C	-	105553918	7	5	193	1	0	1	0	1	0	0	0	0	8206	855	30	0	3166	0	KIAA1033	12	105553918	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	165530	105553918	28297977	1082	106315											
NUAK1	9891	broad.mit.edu	37	chr12	106460846	106460846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggacagcacgctgtcatCgctgatgacactggaagggc	14	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:106460846C>T	uc001tlj.1	-	7	3100	c.1720G>A	c.(1720-1722)GAT>AAT	p.D574N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	574							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						ACGCTGTCATCGCTGATGACA	0.607													T	106460846	C	T	106460846	3	4	193	1	0	0	0	0	1	0	0	0	10712	884	31	1	269	1	NUAK1	12	106460846	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	906928	106460846	27391049	1083	106316											
ASCL4	121549	broad.mit.edu	37	chr12	108169061	108169061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcaccgcgcccctgggCgttccggggaccctgcccgg	15	19	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:108169061C>T	uc001tmr.2	+	1	900	c.69C>T	c.(67-69)GGC>GGT	p.G23G		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	22					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCCCCTGGGCGTTCCGGGGA	0.697													T	108169061	C	T	108169061	2	4	193	1	0	0	0	0	0	0	0	1	1036	755	27	1		1	ASCL4	12	108169061	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1708215	108169061	25682834	1084	106317											
ASCL4	121549	broad.mit.edu	37	chr12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-													cccggactcccgcggagggaCcccctcagggtcgccctgcg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:108169097delC	uc001tmr.2	+	1	936	c.105delC	c.(103-105)GACfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCGGAGGGACCCCCTCAGGG	0.741													-	108169097	C	-	108169097	7	5	193	1	0	1	0	1	0	0	0	0	1036	506	18	0	107	0	ASCL4	12	108169097	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	36	108169097	25682798	1085	106318											
ACAD10	80724	broad.mit.edu	37	chr12	112167624	112167624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggggactatattccaCgccaggtacgaacctgggtt	12	12	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:112167624C>T	uc001tsq.2	+	10	1458	c.1258C>T	c.(1258-1260)CGC>TGC	p.R420C	ACAD10_uc001tsp.2_Missense_Mutation_p.R420C|ACAD10_uc009zvx.2_Missense_Mutation_p.R451C|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	420							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CTATATTCCACGCCAGGTACG	0.473													T	112167624	C	T	112167624	3	4	193	1	0	0	0	0	1	0	0	0	108	536	19	1	1389	1	ACAD10	12	112167624	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3998527	112167624	21684271	1086	106319											
ALDH2	217	broad.mit.edu	37	chr12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-													aagagagtgaccttggagctGggggggaagagccccaacat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:112229926_112229926TG>T	uc001tst.3	+	7	953	c.857_857TG>T	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Del_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAG	0.572			T	HMGA2	leiomyoma								-	112229927	G	-	112229927	7	5	193	1	0	1	0	1	0	0	0	0	496	1335	47	0	888	0	ALDH2	12	112229927	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	62303	112229927	21621968	1087	106320											
RPL6	6128	broad.mit.edu	37	chr12	112846235	112846235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccttaccttggatttagCggctgagtacttcctcttgt	8	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:112846235C>T	uc001ttu.2	-	2	455	c.226G>A	c.(226-228)GCT>ACT	p.A76T	RPL6_uc001ttv.2_Missense_Mutation_p.A76T|RPL6_uc009zwd.1_Missense_Mutation_p.A76T	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	76					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			large_intestine(1)	1						TTGGATTTAGCGGCTGAGTAC	0.463													T	112846235	C	T	112846235	3	4	193	1	0	0	0	0	1	0	0	0	13598	768	27	1	664	1	RPL6	12	112846235	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	616308	112846235	21005660	1088	106321											
OAS3	4940	broad.mit.edu	37	chr12	113386827	113386827	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccactggggcagccagcatCgtcccctctgtgccgggaat	12	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:113386827C>T	uc001tug.2	+	6	1278	c.1191C>T	c.(1189-1191)ATC>ATT	p.I397I		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	397	Linker.				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			central_nervous_system(1)	1						CAGCCAGCATCGTCCCCTCTG	0.622													T	113386827	C	T	113386827	2	4	193	1	0	0	0	0	0	0	0	1	10801	874	31	1		1	OAS3	12	113386827	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	540592	113386827	20465068	1089	106322											
TPCN1	53373	broad.mit.edu	37	chr12	113698206	113698206	+	Frame_Shift_Del	DEL	C	C	-													tgccatccacgactcccaggCccccagtctcagctctgggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:113698206delC	uc001tuw.2	+	3	443	c.146delC	c.(145-147)GCCfs	p.A49fs	TPCN1_uc001tux.2_Frame_Shift_Del_p.A121fs|TPCN1_uc010syt.1_5'UTR	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	49	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						GACTCCCAGGCCCCCAGTCTC	0.562													-	113698206	C	-	113698206	7	5	193	1	0	1	0	1	0	0	0	0	16392	739	26	0	372	0	TPCN1	12	113698206	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	311379	113698206	20153689	1090	106323											
MED13L	23389	broad.mit.edu	37	chr12	116446528	116446528	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctctgtttcctgacctcGtggctgagggctgagtgttg	13	10	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:116446528G>A	uc001tvw.2	-	10	1745	c.1690C>T	c.(1690-1692)CGA>TGA	p.R564*		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	564					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCTGACCTCGTGGCTGAGGG	0.498													A	116446528	G	A	116446528	4	1	193	1	0	0	0	0	0	1	0	0	9431	1153	40	1	5030	1	MED13L	12	116446528	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2748322	116446528	17405367	1091	106324											
ANAPC5	51433	broad.mit.edu	37	chr12	121756174	121756174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggagcatgggcagcGcgatggtaggggaggaagat	19	7	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:121756174G>A	uc001uag.2	-	15	1921	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	ANAPC5_uc010szu.1_Missense_Mutation_p.A266V|ANAPC5_uc001uae.2_Missense_Mutation_p.A164V|ANAPC5_uc010szv.1_Missense_Mutation_p.A202V|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.A488V|ANAPC5_uc001uai.1_Intron	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	600	TPR 3.				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			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATGGGCAGCGCGATGGTAGG	0.552													A	121756174	G	A	121756174	3	1	193	1	0	0	0	0	1	0	0	0	605	1087	38	1	480	1	ANAPC5	12	121756174	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5309646	121756174	12095721	1092	106325											
ORAI1	84876	broad.mit.edu	37	chr12	122078974	122078974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaggtgcagctggacGctgaccacgactacccaccg	14	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:122078974G>A	uc010szz.1	+	3	524	c.331G>A	c.(331-333)GCT>ACT	p.A111T		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	calcium release-activated calcium channel	111	Extracellular (Potential).				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCAGCTGGACGCTGACCACGA	0.577													A	122078974	G	A	122078974	3	1	193	1	0	0	0	0	1	0	0	0	11257	1087	38	1	343	1	ORAI1	12	122078974	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	322800	122078974	11772921	1093	106326											
CCDC62	84660	broad.mit.edu	37	chr12	123307941	123307941	+	Frame_Shift_Del	DEL	A	A	-													ggtcccagaagagtcagctcAaaaaaatacctttgtcagtt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:123307941delA	uc001udc.2	+	12	2175	c.2030delA	c.(2029-2031)CAAfs	p.Q677fs	CCDC62_uc010tah.1_Intron|CCDC62_uc001udf.2_Intron|CCDC62_uc001ude.2_Frame_Shift_Del_p.Q438fs	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	677						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	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)		GAGTCAGCTCAAAAAAATACC	0.353													-	123307941	A	-	123307941	7	5	193	1	0	1	0	1	0	0	0	0	2833	130	5	0	2076	0	CCDC62	12	123307941	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1228967	123307941	10543954	1094	106327											
ABCB9	23457	broad.mit.edu	37	chr12	123419951	123419951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatggagcgggcgaacaGcacgggctcctggctcacca	15	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:123419951G>A	uc001udm.3	-	10	2081	c.1771C>T	c.(1771-1773)CTG>TTG	p.L591L	ABCB9_uc010tai.1_Silent_p.L198L|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.L548L|ABCB9_uc010taj.1_Silent_p.L528L|ABCB9_uc001udp.2_Silent_p.L591L|ABCB9_uc001udq.2_Silent_p.L310L	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	591	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	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)		CGGGCGAACAGCACGGGCTCC	0.622													A	123419951	G	A	123419951	2	1	193	1	0	0	0	0	0	0	0	1	48	962	34	2		2	ABCB9	12	123419951	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	112010	123419951	10431944	1095	106328											
DNAH10	196385	broad.mit.edu	37	chr12	124359903	124359903	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggctttattgctgcAatgggaaaggctggaggagg	16	6	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:124359903A>G	uc001uft.3	+	46	7735	c.7710A>G	c.(7708-7710)GCA>GCG	p.A2570A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2570	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TTATTGCTGCAATGGGAAAGG	0.463													G	124359903	A	G	124359903	2	3	193	1	0	0	0	0	0	0	0	1	4598	117	5	3		3	DNAH10	12	124359903	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	939952	124359903	9491992	1096	106329											
NCOR2	9612	broad.mit.edu	37	chr12	124915272	124915272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggggttgttctcgatgCgctccaccttcttctcccag	11	15	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:124915272C>T	uc010tba.1	-	9	1061	c.944G>A	c.(943-945)CGC>CAC	p.R315H	NCOR2_uc010tay.1_Missense_Mutation_p.R315H|NCOR2_uc010taz.1_Missense_Mutation_p.R315H|NCOR2_uc010tbb.1_Missense_Mutation_p.R315H|NCOR2_uc010tbc.1_Missense_Mutation_p.R315H|NCOR2_uc001ugj.1_Missense_Mutation_p.R315H|NCOR2_uc001ugk.1_Missense_Mutation_p.R315H	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	315					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			skin(3)|ovary(1)	4	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)		GTTCTCGATGCGCTCCACCTT	0.637													T	124915272	C	T	124915272	3	4	193	1	0	0	0	0	1	0	0	0	10236	768	27	1	6780	1	NCOR2	12	124915272	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	555369	124915272	8936623	1097	106330											
ULK1	8408	broad.mit.edu	37	chr12	132393481	132393481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctccagagcaacatgAtggcggccacactctgcggc	12	14	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:132393481A>G	uc001uje.2	+	7	797	c.529A>G	c.(529-531)ATG>GTG	p.M177V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	177	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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		GAGCAACATGATGGCGGCCAC	0.512													G	132393481	A	G	132393481	3	3	193	1	0	0	0	0	1	0	0	0	16972	333	12	3	555	3	ULK1	12	132393481	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	7478209	132393481	1458414	1098	106331											
ULK1	8408	broad.mit.edu	37	chr12	132394489	132394489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggagacctcggccccgCtgcggcagctgctcctggcc	14	19	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:132394489C>T	uc001uje.2	+	10	1019	c.751C>T	c.(751-753)CTG>TTG	p.L251L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	251	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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		CTCGGCCCCGCTGCGGCAGCT	0.716													T	132394489	C	T	132394489	2	4	193	1	0	0	0	0	0	0	0	1	16972	796	28	2		2	ULK1	12	132394489	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1008	132394489	1457406	1099	106332											
GALNT9	50614	broad.mit.edu	37	chr12	132688118	132688118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacacctcggcggcgcGcagggcgttgcgcttggcat	14	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:132688118G>A	uc001ukc.3	-	7	1311	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C	GALNT9_uc009zyr.2_Missense_Mutation_p.R173C|GALNT9_uc001ukb.2_Missense_Mutation_p.R256C|GALNT9_uc001uka.2_Missense_Mutation_p.R33C	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	399	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	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)		TCGGCGGCGCGCAGGGCGTTG	0.642													A	132688118	G	A	132688118	3	1	193	1	0	0	0	0	1	0	0	0	6220	1087	38	1	636	1	GALNT9	12	132688118	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	293629	132688118	1163777	1100	106333											
POLE	5426	broad.mit.edu	37	chr12	133210876	133210876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacgttggattcctccGcctcttcctcctcctcccca	4	22	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr12:133210876G>A	uc001uks.1	-	43	5944	c.5900C>T	c.(5899-5901)GCG>GTG	p.A1967V	POLE_uc001ukq.1_Missense_Mutation_p.A177V|POLE_uc001ukr.1_Missense_Mutation_p.A771V|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1967					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		GGATtcctccgcctcttcctc	0.313								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133210876	G	A	133210876	3	1	193	1	0	0	0	0	1	0	0	0	12196	1087	38	1	988	1	POLE	12	133210876	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	522758	133210876	641019	1101	106334											
PSPC1	55269	broad.mit.edu	37	chr13	20277357	20277358	+	Frame_Shift_Ins	INS	-	-	T													ggccttcaaagttgccccctINStgacttcctctaccaaagcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:20277356_20277357C>CT	uc021rgx.1	-	9	1667_1668	c.1530_1531G>AG	c.(1528-1533)caagggfs	p.Q510fs		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	510	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein 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)		AAGTTGCCCCCTTGACTTCCTC	0.455													T	20277358	-	T	20277357	7	5	193	1	0	1	1	0	0	0	0	0	12716	1606	56	0	45	0	PSPC1	13	20277357	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08		20277357	94892521	1102	106335											
ZMYM5	9205	broad.mit.edu	37	chr13	20398930	20398930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaccatttggaagaatcCgtgtataataagtttctgaa	7	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:20398930C>T	uc010tcn.1	-	8	1962	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q	ZMYM5_uc001umm.1_Missense_Mutation_p.R390Q	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	566						nucleus	zinc ion binding				0		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)		tggaagaatccgtgtataata	0													T	20398930	C	T	20398930	3	4	193	1	0	0	0	0	1	0	0	0	17700	652	23	1	316	1	ZMYM5	13	20398930	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	121573	20398930	94770948	1103	106336											
ZMYM5	9205	broad.mit.edu	37	chr13	20411871	20411871	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattccagttgttttcacaGggagacaaacaagatgtact	9	7	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:20411871G>T	uc010tcn.1	-	6	1228	c.963C>A	c.(961-963)CCC>CCA	p.P321P	ZMYM5_uc001umm.1_Silent_p.P145P|ZMYM5_uc001umn.2_Silent_p.P321P|ZMYM5_uc001umo.2_3'UTR	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	321	MYM-type 2.					nucleus	zinc ion binding				0		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)		TGTTTTCACAGGGAGACAAAC	0.328													T	20411871	G	T	20411871	2	4	193	1	0	0	0	0	0	0	0	1	17700	987	35	5		5	ZMYM5	13	20411871	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	12941	20411871	94758007	1104	106337											
SACS	26278	broad.mit.edu	37	chr13	23910322	23910322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgctgtctaggatcaaAcacaaaacagatttctgtcg	9	8	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23910322A>G	uc001uon.2	-	10	8282	c.7693T>C	c.(7693-7695)TTT>CTT	p.F2565L	SACS_uc001uoo.2_Missense_Mutation_p.F2418L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2565					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CTAGGATCAAACACAAAACAG	0.398													G	23910322	A	G	23910322	3	3	193	1	0	0	0	0	1	0	0	0	13804	43	2	3	6050	3	SACS	13	23910322	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3498451	23910322	91259556	1105	106338											
SACS	26278	broad.mit.edu	37	chr13	23911920	23911920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcaaatcctaattttaccGaagaaggaagttcaacagca	6	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23911920G>A	uc001uon.2	-	10	6684	c.6095C>T	c.(6094-6096)TCG>TTG	p.S2032L	SACS_uc001uoo.2_Missense_Mutation_p.S1885L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2032			Missing (in SACS).		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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TAATTTTACCGAAGAAGGAAG	0.348													A	23911920	G	A	23911920	3	1	193	1	0	0	0	0	1	0	0	0	13804	1059	37	1	7648	1	SACS	13	23911920	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1598	23911920	91257958	1106	106339											
SACS	26278	broad.mit.edu	37	chr13	23913665	23913665	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcctgactgctcaaaTcccatgttttcaggatttat	6	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23913665T>A	uc001uon.2	-	10	4939	c.4350A>T	c.(4348-4350)GGA>GGT	p.G1450G	SACS_uc001uoo.2_Silent_p.G1303G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1450					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		ACTGCTCAAATCCCATGTTTT	0.363													A	23913665	T	A	23913665	2	1	193	1	0	0	0	0	0	0	0	1	13804	1422	50	5		5	SACS	13	23913665	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1745	23913665	91256213	1107	106340											
SACS	26278	broad.mit.edu	37	chr13	23928948	23928948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattccctggtaccttggcAatctgcttccctgagctctg	8	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23928948A>G	uc001uon.2	-	8	2392	c.1803T>C	c.(1801-1803)ATT>ATC	p.I601I	SACS_uc001uoo.2_Silent_p.I454I|SACS_uc001uop.1_Silent_p.I388I|SACS_uc001uoq.1_Silent_p.I454I	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	601					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GTACCTTGGCAATCTGCTTCC	0.532													G	23928948	A	G	23928948	2	3	193	1	0	0	0	0	0	0	0	1	13804	126	5	3		3	SACS	13	23928948	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	15283	23928948	91240930	1108	106341											
SACS	26278	broad.mit.edu	37	chr13	23942624	23942624	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcgttgtctgaccaaatcGacctaaaatacggagcacat	9	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:23942624G>A	uc001uon.2	-	5	851	c.262C>T	c.(262-264)CGA>TGA	p.R88*	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	88					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TGACCAAATCGACCTAAAATA	0.393													A	23942624	G	A	23942624	4	1	193	1	0	0	0	0	0	1	0	0	13804	1066	37	1	13501	1	SACS	13	23942624	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	13676	23942624	91227254	1109	106342											
MTMR6	9107	broad.mit.edu	37	chr13	25832819	25832819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagctgctctgttggcCattgcattcagctaaaatta	7	10	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:25832819C>T	uc001uqf.3	-	7	1057	c.738G>A	c.(736-738)ATG>ATA	p.M246I	MTMR6_uc001uqe.1_Missense_Mutation_p.M246I	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	246	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		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)		CTCTGTTGGCCATTGCATTCA	0.279													T	25832819	C	T	25832819	3	4	193	1	0	0	0	0	1	0	0	0	9947	594	21	4	1159	4	MTMR6	13	25832819	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1890195	25832819	89337059	1110	106343											
PAN3	255967	broad.mit.edu	37	chr13	28834653	28834653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgcaaccgaaagcaaacGcaccttccttcttcatggct	6	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:28834653G>A	uc001urz.2	+	7	888	c.880G>A	c.(880-882)GCA>ACA	p.A294T	PAN3_uc010tdo.1_Missense_Mutation_p.A440T|PAN3_uc001ury.2_Missense_Mutation_p.A128T|PAN3_uc001urx.2_Missense_Mutation_p.A240T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	440	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			ovary(1)	1	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)		GAAAGCAAACGCACCTTCCTT	0.418													A	28834653	G	A	28834653	3	1	193	1	0	0	0	0	1	0	0	0	11415	1087	38	1	1348	1	PAN3	13	28834653	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3001834	28834653	86335225	1111	106344											
MTUS2	23281	broad.mit.edu	37	chr13	29599621	29599622	+	Frame_Shift_Ins	INS	-	-	G													cctcagagacccaaacagtgINSggggcacatgtactgcaggt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:29599620_29599621T>TG	uc001usl.4	+	0	873_874	c.815_816T>TG	c.(814-816)gtgfs	p.V272fs		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	262						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						ACCCAAACAGTGGGGGCACATG	0.515													G	29599622	-	G	29599621	7	5	193	1	0	1	1	0	0	0	0	0	9966	1335	47	0	818	0	MTUS2	13	29599621	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	764968	29599621	85570257	1112	106345											
DGKH	160851	broad.mit.edu	37	chr13	42772702	42772702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatccttttggtgccacGccgtttattgacccggatct	9	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:42772702G>A	uc001uyl.1	+	18	2277	c.2256G>A	c.(2254-2256)ACG>ACA	p.T752T	DGKH_uc010tfh.1_Silent_p.T752T|DGKH_uc001uym.1_Silent_p.T752T|DGKH_uc010tfi.1_Silent_p.T507T|DGKH_uc010tfj.1_Silent_p.T607T|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.T607T|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	752					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			ovary(2)	2		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)		TTGGTGCCACGCCGTTTATTG	0.373													A	42772702	G	A	42772702	2	1	193	1	0	0	0	0	0	0	0	1	4470	1074	38	1		1	DGKH	13	42772702	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	13173081	42772702	72397176	1113	106346											
ENOX1	55068	broad.mit.edu	37	chr13	43900635	43900635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttttgtctggtagaagCgttgaaaacggccacaatct	10	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:43900635C>T	uc001uza.3	-	10	1363	c.1063G>A	c.(1063-1065)GCT>ACT	p.A355T	ENOX1_uc001uzb.3_Missense_Mutation_p.A355T|ENOX1_uc001uzc.3_Missense_Mutation_p.A355T|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Missense_Mutation_p.A168T	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	355					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		CTGGTAGAAGCGTTGAAAACG	0.408													T	43900635	C	T	43900635	3	4	193	1	0	0	0	0	1	0	0	0	5126	768	27	1	900	1	ENOX1	13	43900635	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1127933	43900635	71269243	1114	106347											
SLC25A30	253512	broad.mit.edu	37	chr13	45976499	45976499	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgctttgcgcttgcaTccgaatctagagattatttt	10	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:45976499T>A	uc001vag.2	-	6	537	c.400A>T	c.(400-402)ATG>TTG	p.M134L	SLC25A30_uc010tfs.1_Missense_Mutation_p.M59L|SLC25A30_uc001vah.2_Missense_Mutation_p.M59L|SLC25A30_uc010tft.1_Missense_Mutation_p.M83L|SLC25A30_uc001vaf.2_5'UTR	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	134	Solcar 2.				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TGCGCTTGCATCCGAATCTAG	0.443													A	45976499	T	A	45976499	3	1	193	1	0	0	0	0	1	0	0	0	14494	1435	50	5	495	5	SLC25A30	13	45976499	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2075864	45976499	69193379	1115	106348											
ZC3H13	23091	broad.mit.edu	37	chr13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-													tcacctttggattttttacgTtttttttcaatgcttttctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:46543660_46543660GT>G	uc010tfw.1	-	12	3025	c.3019_3019AC>C	c.(3019-3021)cgtfs	p.R1007fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.R1007fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.R1007fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1007	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		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)		GATTTTTTACGTTTTTTTTCA	0.373													-	46543661	T	-	46543661	7	5	193	1	0	1	0	1	0	0	0	0	17562	1722	60	0	1692	0	ZC3H13	13	46543661	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	567162	46543661	68626217	1116	106349											
LCP1	3936	broad.mit.edu	37	chr13	46721114	46721114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtatctgttaaagaggttgGcaataaaagccaagttcaac	10	6	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:46721114G>A	uc001vaz.3	-	10	1229	c.1103C>T	c.(1102-1104)GCC>GTC	p.A368V	LCP1_uc001vay.3_5'Flank|LCP1_uc001vba.3_Missense_Mutation_p.A368V	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	368	CH 2.|Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		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)		AAAGAGGTTGGCAATAAAAGC	0.527			T	BCL6	NHL 								A	46721114	G	A	46721114	3	1	193	1	0	0	0	0	1	0	0	0	8691	1203	42	2	808	2	LCP1	13	46721114	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	177453	46721114	68448764	1117	106350											
C13orf18	80183	broad.mit.edu	37	chr13	46946248	46946248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctgctactcttttcActcgagccatggggagaagc	12	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:46946248A>G	uc010acl.2	-	3	968	c.363T>C	c.(361-363)AGT>AGC	p.S121S	C13orf18_uc001vbf.3_Silent_p.S54S|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_5'UTR|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Silent_p.S121S|C13orf18_uc001vbh.3_Silent_p.S121S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Silent_p.S121S|C13orf18_uc010tga.1_Silent_p.S54S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	121	Ser-rich.										0		Lung NSC(96;2.31e-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;2.19e-05)		TACTCTTTTCACTCGAGCCAT	0.577													G	46946248	A	G	46946248	2	3	193	1	0	0	0	0	0	0	0	1	1720	156	6	3		3	C13orf18	13	46946248	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	225134	46946248	68223630	1118	106351											
CAB39L	81617	broad.mit.edu	37	chr13	49918315	49918315	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatgatttctacttacAgtgtcgtaattttgttctaa	5	5	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:49918315A>G	uc001vcw.2	-	6	1122	c.624T>C	c.(622-624)ACT>ACC	p.T208T	CAB39L_uc001vcx.2_Silent_p.T208T|CAB39L_uc010adf.2_Silent_p.T205T	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	208					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		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)		TTCTACTTACAGTGTCGTAAT	0.353													G	49918315	A	G	49918315	2	3	193	1	0	0	0	0	0	0	0	1	2526	202	7	3		3	CAB39L	13	49918315	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2972067	49918315	65251563	1119	106352											
PHF11	51131	broad.mit.edu	37	chr13	50097359	50097359	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcataagacaagtgaaagaaGagcatggcagacacacaggt	11	7	1	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:50097359G>T	uc001vdb.2	+	7	956	c.619G>T	c.(619-621)GAG>TAG	p.E207*	PHF11_uc001vdc.2_Nonsense_Mutation_p.E168*|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-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;2.38e-09)		AGTGAAAGAAGAGCATGGCAG	0.348													T	50097359	G	T	50097359	4	4	193	1	0	0	0	0	0	1	0	0	11822	943	33	5	645	5	PHF11	13	50097359	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	179044	50097359	65072519	1120	106353											
SUGT1	10910	broad.mit.edu	37	chr13	53254127	53254129	+	In_Frame_Del	DEL	CAT	CAT	-													agatgtaaagaacctatatcCatcatcatctccttatacaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:53254127_53254129delCAT	uc001vhc.2	+	13	1058_1060	c.833_835delCAT	c.(832-837)CCATCA>CCA	p.S281del	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_In_Frame_Del_p.S249del|SUGT1_uc010thb.1_In_Frame_Del_p.S193del|SUGT1_uc001vhd.2_In_Frame_Del_p.S138del	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	281	SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AACCTATATCCATCATCATCTCC	0.315													-	53254129	CAT	-	53254127	7	5	193	1	0	1	0	1	0	0	0	0	15368	594	21	0	883	0	SUGT1	13	53254127	In_Frame_Del	DEL	CAT	TCGA-CG-5726-01A-11D-1600-08	3156768	53254127	61915751	1121	106354											
PCDH17	27253	broad.mit.edu	37	chr13	58207120	58207120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcggagaacgctgctcCgggcacccgcttccccctca	9	19	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:58207120C>T	uc001vhq.1	+	1	1332	c.440C>T	c.(439-441)CCG>CTG	p.P147L	PCDH17_uc010aec.1_Missense_Mutation_p.P147L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGCTGCTCCGGGCACCCGC	0.617													T	58207120	C	T	58207120	3	4	193	1	0	0	0	0	1	0	0	0	11512	652	23	1	442	1	PCDH17	13	58207120	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4952993	58207120	56962758	1122	106355											
KLHL1	57626	broad.mit.edu	37	chr13	70681728	70681728	+	Frame_Shift_Del	DEL	C	C	-													cgtcctgttgcaggcagcctCcccccgccgggccgccggtg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:70681727_70681727TC>T	uc001vip.3	-	0	899	c.105_105GA>A	c.(103-105)ggafs	p.G35fs	KLHL1_uc010thm.2_Frame_Shift_Del_p.G35fs|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	35					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)		GCAGGCAGCCTCCCCCCGCCG	0.617													-	70681728	C	-	70681728	7	5	193	1	0	1	0	1	0	0	0	0	8365	855	30	0	2186	0	KLHL1	13	70681728	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	12474608	70681728	44488150	1123	106356											
MYCBP2	23077	broad.mit.edu	37	chr13	77632491	77632491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtttttaacacccccGcatggatggccacaaggatg	9	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:77632491G>A	uc001vkf.2	-	79	13168	c.13077C>T	c.(13075-13077)TGC>TGT	p.C4359C	MYCBP2_uc010aev.2_Silent_p.C3763C|MYCBP2_uc001vke.2_Silent_p.C976C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448													A	77632491	G	A	77632491	2	1	193	1	0	0	0	0	0	0	0	1	10018	1079	38	1		1	MYCBP2	13	77632491	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6950763	77632491	37537387	1124	106357											
MYCBP2	23077	broad.mit.edu	37	chr13	77725048	77725048	+	Frame_Shift_Del	DEL	T	T	-													ttgatcttgttgtaaagacaTttttttctgagaaacaggga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:77725048delT	uc001vkf.2	-	48	6929	c.6838delA	c.(6838-6840)ATGfs	p.M2280fs	MYCBP2_uc010aev.2_Frame_Shift_Del_p.M1684fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTAAAGACATTTTTTTCTGA	0.368													-	77725048	T	-	77725048	7	5	193	1	0	1	0	1	0	0	0	0	10018	1493	52	0	7232	0	MYCBP2	13	77725048	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	92557	77725048	37444830	1125	106358											
MYCBP2	23077	broad.mit.edu	37	chr13	77862444	77862444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtacattacagtaaataTtgaaagcagaaggattgcta	10	5	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:77862444T>C	uc001vkf.2	-	4	423	c.332A>G	c.(331-333)AAT>AGT	p.N111S	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACAGTAAATATTGAAAGCAGA	0.363													C	77862444	T	C	77862444	3	2	193	1	0	0	0	0	1	0	0	0	10018	1493	52	3	13914	3	MYCBP2	13	77862444	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	137396	77862444	37307434	1126	106359											
SLITRK1	114798	broad.mit.edu	37	chr13	84453682	84453682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggacgcggaggagttgGcatctcgtctcttggaccgc	14	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:84453682G>A	uc001vlk.2	-	1	2847	c.1961C>T	c.(1960-1962)GCC>GTC	p.A654V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	654	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGAGGAGTTGGCATCTCGTCT	0.562													A	84453682	G	A	84453682	3	1	193	1	0	0	0	0	1	0	0	0	14742	1203	42	2	133	2	SLITRK1	13	84453682	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6591238	84453682	30716196	1127	106360											
SLITRK1	114798	broad.mit.edu	37	chr13	84454544	84454544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcttcaaatcagccaAgctgctcacgttcctgttgt	9	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:84454544A>C	uc001vlk.2	-	1	1985	c.1099T>G	c.(1099-1101)TTG>GTG	p.L367V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	367	Extracellular (Potential).|LRRNT 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAATCAGCCAAGCTGCTCACG	0.502													C	84454544	A	C	84454544	3	2	193	1	0	0	0	0	1	0	0	0	14742	69	3	5	995	5	SLITRK1	13	84454544	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	862	84454544	30715334	1128	106361											
SLITRK1	114798	broad.mit.edu	37	chr13	84455457	84455457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattgccatgcagaaataaAtggtaaaactgggaagtcgg	12	5	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:84455457A>G	uc001vlk.2	-	1	1072	c.186T>C	c.(184-186)CAT>CAC	p.H62H		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	62	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAGAAATAAATGGTAAAACT	0.443													G	84455457	A	G	84455457	2	3	193	1	0	0	0	0	0	0	0	1	14742	98	4	3		3	SLITRK1	13	84455457	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	913	84455457	30714421	1129	106362											
DCT	1638	broad.mit.edu	37	chr13	95131277	95131277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcacggtcatcctggtttCgtaggatgtagggaccactc	12	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:95131277C>T	uc001vlv.3	-	1	660	c.233G>A	c.(232-234)CGA>CAA	p.R78Q	DCT_uc010afh.2_Missense_Mutation_p.R78Q	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	78	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	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)		ATCCTGGTTTCGTAGGATGTA	0.612													T	95131277	C	T	95131277	3	4	193	1	0	0	0	0	1	0	0	0	4304	884	31	1	1465	1	DCT	13	95131277	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	10675820	95131277	20038601	1130	106363											
ABCC4	10257	broad.mit.edu	37	chr13	95686970	95686970	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatacggctcatcatattcTttcagtcttcctgaatctaa	4	11	6	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:95686970T>A	uc001vmd.3	-	30	3878	c.3759A>T	c.(3757-3759)AAA>AAT	p.K1253N	ABCC4_uc010afj.2_Missense_Mutation_p.K44N|ABCC4_uc010afk.2_Missense_Mutation_p.K1206N	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	1253	ABC transporter 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			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CATCATATTCTTTCAGTCTTC	0.388													A	95686970	T	A	95686970	3	1	193	1	0	0	0	0	1	0	0	0	55	1606	56	5	226	5	ABCC4	13	95686970	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	555693	95686970	19482908	1131	106364											
UGGT2	55757	broad.mit.edu	37	chr13	96589179	96589179	+	Splice_Site	DEL	A	A	-													cttataaatgcttacctaccAaaaaaacttctctttgtaaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:96589178_96589178CA>C	uc001vmt.3	-	17	2147	c.1977_splice	c.e17+1	p.L659_splice		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	659					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	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						GCTTACCTACCAAAAAAACTT	0.239													-	96589179	A	-	96589179	8	5	193	1	0	1	0	1	0	0	1	0	16939	144	5	0	2666	0	UGGT2	13	96589179	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	902209	96589179	18580699	1132	106365											
UBAC2	337867	broad.mit.edu	37	chr13	99992580	99992580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttttcttctagatgtccGgtctgtgctacgacagcaaa	9	10	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:99992580G>A	uc001voa.3	+	7	1052	c.568G>A	c.(568-570)GGT>AGT	p.G190S	UBAC2_uc010tiu.1_Missense_Mutation_p.G212S|UBAC2_uc001vob.3_Missense_Mutation_p.G163S|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Missense_Mutation_p.G77S|UBAC2_uc001voc.2_Missense_Mutation_p.G155S|UBAC2_uc010tiw.1_RNA|UBAC2_uc001voh.2_5'UTR	NM_001144072	NP_001137544	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2 isoform 1	190	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAGATGTCCGGTCTGTGCTA	0.423													A	99992580	G	A	99992580	3	1	193	1	0	0	0	0	1	0	0	0	16832	1116	39	1	754	1	UBAC2	13	99992580	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3403401	99992580	15177298	1133	106366											
PCCA	5095	broad.mit.edu	37	chr13	100909900	100909900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgggaaaggcatgcGcattgcttgggatgatgaag	18	4	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:100909900G>A	uc001voo.2	+	9	727	c.689G>A	c.(688-690)CGC>CAC	p.R230H	PCCA_uc010aga.2_Missense_Mutation_p.R204H|PCCA_uc010tiz.1_Missense_Mutation_p.R230H	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	230	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAGGCATGCGCATTGCTTGG	0.443													A	100909900	G	A	100909900	3	1	193	1	0	0	0	0	1	0	0	0	11504	1087	38	1	723	1	PCCA	13	100909900	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	917320	100909900	14259978	1134	106367											
TPP2	7174	broad.mit.edu	37	chr13	103317270	103317270	+	Frame_Shift_Del	DEL	A	A	-													aggcctgatgcagctactatAaaaaagtacctaaccagtaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:103317269_103317269TA>T	uc001vpi.4	+	25	3429	c.3326_3326TA>T	c.(3325-3327)atafs	p.I1109fs		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1109					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)					GCAGCTACTATAAAAAAGTAC	0.343													-	103317270	A	-	103317270	7	5	193	1	0	1	0	1	0	0	0	0	16409	352	13	0	3429	0	TPP2	13	103317270	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2407370	103317270	11852608	1135	106368											
LIG4	3981	broad.mit.edu	37	chr13	108863111	108863112	+	Frame_Shift_Ins	INS	-	-	T													tataagttgaagaaggctctINStttttattaggtcttttctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:108863110_108863111C>CT	uc001vqn.3	-	1	779_780	c.506_507G>AG	c.(505-507)aagfs	p.K169fs	LIG4_uc001vqo.3_Frame_Shift_Ins_p.K169fs|LIG4_uc010agf.3_Frame_Shift_Ins_p.K169fs|LIG4_uc001vqp.3_Frame_Shift_Ins_p.K169fs|LIG4_uc010agg.1_Frame_Shift_Ins_p.K102fs|LIG4_uc021rmk.1_Frame_Shift_Ins_p.K169fs	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	169					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|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 X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|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)					GAAGAAGGCTCTTTTTTATTAG	0.351								Non-homologous end-joining					T	108863112	-	T	108863111	7	5	193	1	0	1	1	0	0	0	0	0	8783	1609	56	0	2233	0	LIG4	13	108863111	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	5545841	108863111	6306767	1136	106369											
COL4A2	1284	broad.mit.edu	37	chr13	111156281	111156281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagtgggtccccaggggaGgcgaggcccccctggggcac	18	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:111156281G>T	uc001vqx.2	+	44	4515	c.4226G>T	c.(4225-4227)AGG>ATG	p.R1409M		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1409	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			CCCCAGGGGAGGCGAGGCCCC	0.721													T	111156281	G	T	111156281	3	4	193	1	0	0	0	0	1	0	0	0	3690	1000	35	5	4396	5	COL4A2	13	111156281	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2293170	111156281	4013597	1137	106370											
ING1	3621	broad.mit.edu	37	chr13	111372042	111372042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagaggcgtcccctgcCgacctccccatcgaccccaa	10	19	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:111372042C>T	uc001vri.2	+	2	1464	c.1032C>T	c.(1030-1032)GCC>GCT	p.A344A	ING1_uc001vrf.2_Silent_p.A157A|ING1_uc001vrg.2_Silent_p.A132A|ING1_uc001vrh.2_Silent_p.A201A	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	344					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	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)			CGTCCCCTGCCGACCTCCCCA	0.627													T	111372042	C	T	111372042	2	4	193	1	0	0	0	0	0	0	0	1	7735	639	23	1		1	ING1	13	111372042	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	215761	111372042	3797836	1138	106371											
LAMP1	3916	broad.mit.edu	37	chr13	113975961	113975961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacgcggaggagcacgtcCgtgtcacgaaggcgttttca	14	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:113975961C>T	uc001vtm.1	+	8	1314	c.1033C>T	c.(1033-1035)CGT>TGT	p.R345C	LAMP1_uc010tka.1_Missense_Mutation_p.R292C	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	345	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	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)			GGAGCACGTCCGTGTCACGAA	0.567													T	113975961	C	T	113975961	3	4	193	1	0	0	0	0	1	0	0	0	8617	652	23	1	1063	1	LAMP1	13	113975961	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2603919	113975961	1193917	1139	106372											
GRTP1	79774	broad.mit.edu	37	chr13	114005253	114005253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggtccgtggtcttccGgaacttcacgttgtcgggga	16	10	2	0	rs146277531	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:114005253G>A	uc001vtn.2	-	4	473	c.376C>T	c.(376-378)CGG>TGG	p.R126W	GRTP1_uc010tkb.1_Missense_Mutation_p.R48W|GRTP1_uc010tkc.1_Missense_Mutation_p.R126W|GRTP1_uc010agv.1_RNA	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	126	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	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)			GTGGTCTTCCGGAACTTCACG	0.582													A	114005253	G	A	114005253	3	1	193	1	0	0	0	0	1	0	0	0	6810	1115	39	1	654	1	GRTP1	13	114005253	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	29292	114005253	1164625	1140	106373											
FAM70B	348013	broad.mit.edu	37	chr13	114469190	114469190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgccaccaccaggaCggagaatgtgaccgttgggg	16	11	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr13:114469190C>T	uc001vuh.2	+	2	176	c.149C>T	c.(148-150)ACG>ATG	p.T50M	FAM70B_uc010tkh.1_Missense_Mutation_p.T50M	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	50						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			ACCACCAGGACGGAGAATGTG	0.652													T	114469190	C	T	114469190	3	4	193	1	0	0	0	0	1	0	0	0	5606	536	19	1	155	1	FAM70B	13	114469190	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	463937	114469190	700688	1141	106374											
PARP2	10038	broad.mit.edu	37	chr14	20824816	20824817	+	Frame_Shift_Ins	INS	-	-	C													gagccatgggcttcgaattgINSccccacctgaagctcccatc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:20824816_20824817insC	uc001vxc.2	+	13	1364_1365	c.1336_1337insC	c.(1336-1338)GCCfs	p.A446fs	PARP2_uc001vxd.2_Frame_Shift_Ins_p.A433fs|PARP2_uc001vxb.1_Frame_Shift_Ins_p.A446fs|PARP2_uc010tle.1_Frame_Shift_Ins_p.A196fs	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	446	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	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)		GCTTCGAATTGCCCCACCTGAA	0.46								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					C	20824817	-	C	20824816	7	5	193	1	0	1	1	0	0	0	0	0	11461	1319	46	0	1386	0	PARP2	14	20824816	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08		20824816	86524724	1142	106375	513	2									
PARP2	10038	broad.mit.edu	37	chr14	20824817	20824818	+	Frame_Shift_Ins	INS	-	-	C													agccatgggcttcgaattgcINScccacctgaagctcccatca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:20824816_20824817G>GC	uc001vxc.3	+	12	1364_1365	c.1336_1337G>GC	c.(1336-1338)gccfs	p.A446fs	PARP2_uc001vxb.1_Frame_Shift_Ins_p.A446fs|PARP2_uc001vxd.3_Frame_Shift_Ins_p.A433fs|PARP2_uc010tle.2_Frame_Shift_Ins_p.A196fs	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	446	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)		GCTTCGAATTGCCCCACCTGAA	0.46								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					C	20824818	-	C	20824817	7	5	193	1	0	1	1	0	0	0	0	0	11461	739	26	0	1387	0	PARP2	14	20824817	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	20824817	86524723	1143	106376	513	2									
RNASE7	84659	broad.mit.edu	37	chr14	21511371	21511371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcaacaccttcctgcacGagcctttctccagtgtggcc	7	17	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:21511371G>A	uc001vzk.3	+	2	477	c.220G>A	c.(220-222)GAG>AAG	p.E74K	NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7 precursor	74					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTTCCTGCACGAGCCTTTCTC	0.542													A	21511371	G	A	21511371	3	1	193	1	0	0	0	0	1	0	0	0	13408	1059	37	1	222	1	RNASE7	14	21511371	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	686554	21511371	85838169	1144	106377											
FLJ10357	55701	broad.mit.edu	37	chr14	21542132	21542132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccatgaggggtggccGctctgcctgcatgaacaggt	13	11	2	2	rs114625560	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:21542132G>A	uc001vzp.2	+	3	272	c.243G>A	c.(241-243)CCG>CCA	p.P81P	FLJ10357_uc001vzn.1_Silent_p.P81P|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	81					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AGGGGTGGCCGCTCTGCCTGC	0.617													A	21542132	G	A	21542132	2	1	193	1	0	0	0	0	0	0	0	1	5926	1074	38	1		1	FLJ10357	14	21542132	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	30761	21542132	85807408	1145	106378											
PRMT5	10419	broad.mit.edu	37	chr14	23397733	23397733	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcagtaggtctgatcGtgtctggggaccgggccgat	16	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:23397733G>A	uc001whm.1	-	2	293	c.202C>T	c.(202-204)CGA>TGA	p.R68*	PRMT5_uc001whl.1_Nonsense_Mutation_p.R51*|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Intron|PRMT5_uc010tng.1_Nonsense_Mutation_p.R51*|PRMT5_uc010tnh.1_Nonsense_Mutation_p.R68*|PRMT5_uc001whn.1_Nonsense_Mutation_p.R51*	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	68					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			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGGTCTGATCGTGTCTGGGGA	0.507													A	23397733	G	A	23397733	4	1	193	1	0	0	0	0	0	1	0	0	12539	1153	40	1	1775	1	PRMT5	14	23397733	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1855601	23397733	83951807	1146	106379											
MYH7	4625	broad.mit.edu	37	chr14	23898199	23898199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgatgtccaggactcCtatgaagtactggcgtggct	13	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:23898199C>T	uc001wjx.2	-	14	1478	c.1372G>A	c.(1372-1374)GGA>AGA	p.G458R		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	458	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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGGACTCCTATGAAGTAC	0.522													T	23898199	C	T	23898199	3	4	193	1	0	0	0	0	1	0	0	0	10039	690	24	4	4543	4	MYH7	14	23898199	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	500466	23898199	83451341	1147	106380											
RNF31	55072	broad.mit.edu	37	chr14	24620520	24620520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcaggaggcccggagaGcctggctggatcgtcatggc	16	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24620520G>T	uc001wmn.1	+	9	1918	c.1669G>T	c.(1669-1671)GCC>TCC	p.A557S	RNF31_uc001wml.1_Missense_Mutation_p.A406S|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.A316S|RNF31_uc001wmo.1_Missense_Mutation_p.A24S|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	557					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GGCCCGGAGAGCCTGGCTGGA	0.602													T	24620520	G	T	24620520	3	4	193	1	0	0	0	0	1	0	0	0	13487	971	34	5	1703	5	RNF31	14	24620520	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	722321	24620520	82729020	1148	106381											
REC8	9985	broad.mit.edu	37	chr14	24641958	24641958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccggttggtgaagcgCgaatacctgagggtgaatgt	17	7	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24641958C>T	uc001wmr.2	+	3	520	c.93C>T	c.(91-93)CGC>CGT	p.R31R	REC8_uc001wms.2_Silent_p.R31R	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	31					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		TGGTGAAGCGCGAATACCTGA	0.637													T	24641958	C	T	24641958	2	4	193	1	0	0	0	0	0	0	0	1	13199	755	27	1		1	REC8	14	24641958	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	21438	24641958	82707582	1149	106382											
TGM1	7051	broad.mit.edu	37	chr14	24729847	24729848	+	Frame_Shift_Ins	INS	-	-	C													ggctttccagcctccactgcINScccccttgcccactgggatg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24729846_24729847G>GC	uc001wod.3	-	3	690_691	c.566_567C>GC	c.(565-567)ggcfs	p.G189fs	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	189					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCCTCCACTGCCCCCCTTGCC	0.589													C	24729848	-	C	24729847	7	5	193	1	0	1	1	0	0	0	0	0	15826	739	26	0	1935	0	TGM1	14	24729847	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	87889	24729847	82619693	1150	106383											
NYNRIN	57523	broad.mit.edu	37	chr14	24884675	24884675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcctcccggaccactgcGgaccctgaggtgcgggaggg	16	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24884675G>A	uc001wpf.3	+	9	4038	c.3720G>A	c.(3718-3720)GCG>GCA	p.A1240A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1240					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						GGACCACTGCGGACCCTGAGG	0.617													A	24884675	G	A	24884675	2	1	193	1	0	0	0	0	0	0	0	1	10796	1103	39	1		1	NYNRIN	14	24884675	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	154828	24884675	82464865	1151	106384											
CBLN3	643866	broad.mit.edu	37	chr14	24898055	24898055	+	Frame_Shift_Del	DEL	G	G	-													cagcaaatgccactcgcccaGggggtgcctctcccagggct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:24898055delG	uc001wpg.3	-	1	677	c.206delC	c.(205-207)CCTfs	p.P69fs	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	69	C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		CACTCGCCCAGGGGGTGCCTC	0.677													-	24898055	G	-	24898055	7	5	193	1	0	1	0	1	0	0	0	0	2706	1000	35	0	423	0	CBLN3	14	24898055	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	13380	24898055	82451485	1152	106385											
NPAS3	64067	broad.mit.edu	37	chr14	34269448	34269448	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcccccaacagtgcctcggtGctcaagatcaagacggagat	10	13	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:34269448G>C	uc001wru.2	+	12	1999	c.1935G>C	c.(1933-1935)GTG>GTC	p.V645V	NPAS3_uc001wrs.2_Silent_p.V632V|NPAS3_uc001wrt.2_Silent_p.V613V|NPAS3_uc001wrv.2_Silent_p.V615V	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		GTGCCTCGGTGCTCAAGATCA	0.657													C	34269448	G	C	34269448	2	2	193	1	0	0	0	0	0	0	0	1	10564	1306	46	5		5	NPAS3	14	34269448	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	9371393	34269448	73080092	1153	106386											
PAX9	5083	broad.mit.edu	37	chr14	37132207	37132207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaactggcccaactgggcaTccgaccgtgtgacatcagcc	12	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:37132207T>C	uc001wty.3	+	3	827	c.110T>C	c.(109-111)ATC>ACC	p.I37T	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	37	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		CAACTGGGCATCCGACCGTGT	0.652													C	37132207	T	C	37132207	3	2	193	1	0	0	0	0	1	0	0	0	11486	1435	50	3	116	3	PAX9	14	37132207	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2862759	37132207	70217333	1154	106387											
NIN	51199	broad.mit.edu	37	chr14	51224918	51224918	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccctcagttcccttttgtGactgctcttcagctcaagta	6	14	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:51224918G>A	uc001wym.2	-	18	3021	c.2830C>T	c.(2830-2832)CAC>TAC	p.H944Y	NIN_uc001wyi.2_Missense_Mutation_p.H944Y|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.H950Y|NIN_uc001wyo.2_Missense_Mutation_p.H944Y	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	944	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCCTTTTGTGACTGCTCTTC	0.542			T	PDGFRB	MPD								A	51224918	G	A	51224918	3	1	193	1	0	0	0	0	1	0	0	0	10417	1290	45	4	3775	4	NIN	14	51224918	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	14092711	51224918	56124622	1155	106388											
PELI2	57161	broad.mit.edu	37	chr14	56755227	56755227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcagccagaacacggacGaagcccagatcacacagagc	11	14	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:56755227G>A	uc001xch.2	+	4	668	c.382G>A	c.(382-384)GAA>AAA	p.E128K		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	128					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			ovary(1)	1						GAACACGGACGAAGCCCAGAT	0.507													A	56755227	G	A	56755227	3	1	193	1	0	0	0	0	1	0	0	0	11722	1059	37	1	396	1	PELI2	14	56755227	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5530309	56755227	50594313	1156	106389											
MUDENG	55745	broad.mit.edu	37	chr14	57741440	57741440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcattagataataccAattttgcatctgtgactcag	6	7	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:57741440A>G	uc001xcv.2	+	2	980	c.553A>G	c.(553-555)AAT>GAT	p.N185D	MUDENG_uc001xcu.3_Missense_Mutation_p.N185D|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.N82D	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	185					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						AGATAATACCAATTTTGCATC	0.393													G	57741440	A	G	57741440	3	3	193	1	0	0	0	0	1	0	0	0	9983	130	5	3	559	3	MUDENG	14	57741440	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	986213	57741440	49608100	1157	106390											
ACTR10	55860	broad.mit.edu	37	chr14	58678087	58678087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattctgccatggtcctagaTtgtggatatagggaaagcct	11	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:58678087T>A	uc001xdf.2	+	5	523	c.420T>A	c.(418-420)GAT>GAA	p.D140E	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Translation_Start_Site|ACTR10_uc001xdh.2_Translation_Start_Site|ACTR10_uc010trp.1_5'Flank|ACTR10_uc010apc.2_5'Flank	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	140						cytoplasm				central_nervous_system(1)	1						TGGTCCTAGATTGTGGATATA	0.378													A	58678087	T	A	58678087	3	1	193	1	0	0	0	0	1	0	0	0	208	1490	52	5	438	5	ACTR10	14	58678087	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	936647	58678087	48671453	1158	106391											
PSMA3	5684	broad.mit.edu	37	chr14	58718839	58718839	+	Frame_Shift_Del	DEL	C	C	-													ttcttctccttgtttcagtaCagctattggaatcagatgca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:58718839delC	uc001xdj.1	+	3	153	c.107delC	c.(106-108)ACAfs	p.T36fs	C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Frame_Shift_Del_p.T36fs	NM_002788	NP_002779	P25788	PSA3_HUMAN	proteasome alpha 3 subunit isoform 1	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|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				0						TGTTTCAGTACAGCTATTGGA	0.284													-	58718839	C	-	58718839	7	5	193	1	0	1	0	1	0	0	0	0	12668	478	17	0	117	0	PSMA3	14	58718839	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	40752	58718839	48630701	1159	106392											
C14orf149	112849	broad.mit.edu	37	chr14	59946072	59946072	+	Splice_Site	DEL	A	A	-													gaacatccaccatgagatctAaaaaaaagatgtgtttggaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333													-	59946072	A	-	59946072	8	5	193	1	0	1	0	1	0	0	1	0	1752	377	13	0		0	C14orf149	14	59946072	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1227233	59946072	47403468	1160	106393											
RTN1	6252	broad.mit.edu	37	chr14	60072086	60072086	+	Frame_Shift_Del	DEL	T	T	-													aacagcttaagcaactatacTtttaaggaatccaccaggtc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:60072086delT	uc001xen.1	-	5	2321	c.2112delA	c.(2110-2112)AAAfs	p.K704fs	RTN1_uc001xem.1_Frame_Shift_Del_p.K284fs|RTN1_uc001xek.1_Frame_Shift_Del_p.K136fs|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Frame_Shift_Del_p.K121fs	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	704	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAACTATACTTTTAAGGAAT	0.418													-	60072086	T	-	60072086	7	5	193	1	0	1	0	1	0	0	0	0	13725	1623	56	0	238	0	RTN1	14	60072086	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	126014	60072086	47277454	1161	106394											
SNAPC1	6617	broad.mit.edu	37	chr14	62248987	62248987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaaatcaagaaggcatcGtcaagtcaaactcgactctt	6	11	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:62248987G>A	uc001xft.2	+	8	952	c.848G>A	c.(847-849)CGT>CAT	p.R283H		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	283					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGAAGGCATCGTCAAGTCAAA	0.353													A	62248987	G	A	62248987	3	1	193	1	0	0	0	0	1	0	0	0	14834	1145	40	1	878	1	SNAPC1	14	62248987	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2176901	62248987	45100553	1162	106395											
SYNE2	23224	broad.mit.edu	37	chr14	64522715	64522715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctataaagaagcagtcacCagggcagtggagagcatcac	12	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:64522715C>T	uc001xgm.2	+	49	10028	c.9798C>T	c.(9796-9798)ACC>ACT	p.T3266T	SYNE2_uc001xgl.2_Silent_p.T3266T|SYNE2_uc010apw.1_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3266	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGCAGTCACCAGGGCAGTGG	0.393													T	64522715	C	T	64522715	2	4	193	1	0	0	0	0	0	0	0	1	15443	581	21	4		4	SYNE2	14	64522715	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2273728	64522715	42826825	1163	106396											
RAB15	376267	broad.mit.edu	37	chr14	65417872	65417873	+	Splice_Site	DEL	GA	GA	-													atagaccaaaaatatcccctGagagagagagaaatagagag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:65417871_65417872TGA>T	uc021rut.1	-	4	328	c.247_splice	c.e4-1	p.G83_splice	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Splice_Site_p.G83_splice|RAB15_uc021rur.1_Splice_Site|RAB15_uc021rus.1_Splice_Site			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	83					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)		AAATATCCCCTGAGAGAGAGAG	0.51													-	65417873	GA	-	65417872	8	5	193	1	0	1	0	1	0	0	1	0	12901	1305	45	0		0	RAB15	14	65417872	Splice_Site	DEL	GA	TCGA-CG-5726-01A-11D-1600-08	895157	65417872	41931668	1164	106397											
TMEM229B	161145	broad.mit.edu	37	chr14	67940344	67940344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtagtcccaggggcaggcGttgaactggcgcaggatgaa	17	8	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:67940344G>A	uc001xjk.2	-	3	707	c.297C>T	c.(295-297)AAC>AAT	p.N99N	TMEM229B_uc001xjj.1_RNA	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	99	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						AGGGGCAGGCGTTGAACTGGC	0.647													A	67940344	G	A	67940344	2	1	193	1	0	0	0	0	0	0	0	1	16145	1136	40	1		1	TMEM229B	14	67940344	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2522472	67940344	39409196	1165	106398											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249547	68249547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttatgctgctcaaatcgTccacatctcgcccgtacact	5	16	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:68249547T>C	uc001xka.2	-	21	4461	c.4322A>G	c.(4321-4323)GAC>GGC	p.D1441G	ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.D1441G	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1441					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTCAAATCGTCCACATCTCG	0.502													C	68249547	T	C	68249547	3	2	193	1	0	0	0	0	1	0	0	0	17665	1667	58	3	3385	3	ZFYVE26	14	68249547	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	309203	68249547	39099993	1166	106399											
DCAF5	8816	broad.mit.edu	37	chr14	69521972	69521972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtggaaggcgttgtcGgcagactcatctactgtggg	15	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:69521972G>A	uc001xkp.2	-	9	1650	c.1431C>T	c.(1429-1431)GCC>GCT	p.A477A	DCAF5_uc001xkq.2_Silent_p.A476A	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	477						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						AGGCGTTGTCGGCAGACTCAT	0.627													A	69521972	G	A	69521972	2	1	193	1	0	0	0	0	0	0	0	1	4273	1103	39	1		1	DCAF5	14	69521972	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1272425	69521972	37827568	1167	106400											
SLC39A9	55334	broad.mit.edu	37	chr14	69890833	69890833	+	Frame_Shift_Del	DEL	T	T	-													acgactgaagctggtgactgTtttgggtgctggccttctct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:69890833delT	uc001xle.2	+	2	799	c.119delT	c.(118-120)GTTfs	p.V40fs	SLC39A9_uc001xld.3_RNA|SLC39A9_uc010aqx.2_Frame_Shift_Del_p.V40fs|SLC39A9_uc001xlf.3_Frame_Shift_Del_p.V40fs|SLC39A9_uc001xlg.3_RNA	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	solute carrier family 39 (zinc transporter),	40	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTGGTGACTGTTTTGGGTGCT	0.428													-	69890833	T	-	69890833	7	5	193	1	0	1	0	1	0	0	0	0	14625	1725	60	0	125	0	SLC39A9	14	69890833	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	368861	69890833	37458707	1168	106401											
SIPA1L1	26037	broad.mit.edu	37	chr14	72190527	72190527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttaccctcgccagggcGctactagcaagtacctgatt	9	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:72190527G>A	uc001xms.2	+	16	4783	c.4435G>A	c.(4435-4437)GCT>ACT	p.A1479T	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1458T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1458T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1479T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A933T|SIPA1L1_uc001xmw.2_Missense_Mutation_p.A244T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1479	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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGCCAGGGCGCTACTAGCAA	0.428													A	72190527	G	A	72190527	3	1	193	1	0	0	0	0	1	0	0	0	14329	1087	38	1	4493	1	SIPA1L1	14	72190527	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2299694	72190527	35159013	1169	106402											
DCAF4	26094	broad.mit.edu	37	chr14	73425339	73425339	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggccaggactgctacacGagaatctggagcctccacga	13	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:73425339G>A	uc001xng.2	+	14	1534	c.1314G>A	c.(1312-1314)ACG>ACA	p.T438T	DCAF4_uc001xnj.2_Silent_p.T432T|DCAF4_uc010ttr.1_Silent_p.T417T|DCAF4_uc001xnh.2_Silent_p.T338T|DCAF4_uc010tts.1_Silent_p.T378T|DCAF4_uc010ttt.1_Silent_p.T224T|DCAF4_uc001xni.2_Silent_p.T268T	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	438	WD 2.					CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ACTGCTACACGAGAATCTGGA	0.567													A	73425339	G	A	73425339	2	1	193	1	0	0	0	0	0	0	0	1	4270	1045	37	1		1	DCAF4	14	73425339	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1234812	73425339	33924201	1170	106403											
PAPLN	89932	broad.mit.edu	37	chr14	73727431	73727431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctaggtacgggtgctgccCtgacagggtatctgtcgctg	15	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:73727431C>A	uc010ttx.1	+	16	2163	c.2000C>A	c.(1999-2001)CCT>CAT	p.P667H	PAPLN_uc001xnw.3_Missense_Mutation_p.P640H|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.P667H|PAPLN_uc010arm.2_Translation_Start_Site|PAPLN_uc010arn.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	667						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGGTGCTGCCCTGACAGGGTA	0.657													A	73727431	C	A	73727431	3	1	193	1	0	0	0	0	1	0	0	0	11428	681	24	5	1977	5	PAPLN	14	73727431	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	302092	73727431	33622109	1171	106404											
NUMB	8650	broad.mit.edu	37	chr14	73789849	73789849	+	Frame_Shift_Del	DEL	T	T	-													aatacatacagctttcaatcTttttacagcatcttcacaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:73789849delT	uc001xny.1	-	5	510	c.190delA	c.(190-192)AGAfs	p.R64fs	NUMB_uc010aro.1_Frame_Shift_Del_p.R64fs|NUMB_uc010arp.1_Frame_Shift_Del_p.R64fs|NUMB_uc010arq.1_Frame_Shift_Del_p.R64fs|NUMB_uc010arr.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xoa.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xnz.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xob.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xod.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xoc.1_Frame_Shift_Del_p.R64fs|NUMB_uc010ars.1_Frame_Shift_Del_p.R64fs|NUMB_uc001xof.1_Intron|NUMB_uc001xog.2_Frame_Shift_Del_p.R64fs|NUMB_uc001xoh.1_Frame_Shift_Del_p.R64fs	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	64	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCTTTCAATCTTTTTACAGCA	0.353													-	73789849	T	-	73789849	7	5	193	1	0	1	0	1	0	0	0	0	10751	1617	56	0	1801	0	NUMB	14	73789849	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	62418	73789849	33559691	1172	106405											
ZNF410	57862	broad.mit.edu	37	chr14	74371775	74371775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctgaagaaccaccggcGcatccacacaggtgtgtgca	10	13	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:74371775G>A	uc001xoz.1	+	7	1084	c.902G>A	c.(901-903)CGC>CAC	p.R301H	ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_Missense_Mutation_p.R32H|ZNF410_uc010tuh.1_Missense_Mutation_p.R228H|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.R318H|ZNF410_uc001xpa.1_Missense_Mutation_p.R105H|ZNF410_uc001xpb.1_Missense_Mutation_p.R301H|ZNF410_uc001xpc.1_Missense_Mutation_p.R248H|ZNF410_uc010tuj.1_Missense_Mutation_p.R105H	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN	zinc finger protein 410	301	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AACCACCGGCGCATCCACACA	0.517													A	74371775	G	A	74371775	3	1	193	1	0	0	0	0	1	0	0	0	17887	1087	38	1	924	1	ZNF410	14	74371775	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	581926	74371775	32977765	1173	106406											
RPS6KL1	83694	broad.mit.edu	37	chr14	75373815	75373815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccaggcgccgggtaggctCgaactgcagcagctgcagag	16	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:75373815C>T	uc010tux.1	-	11	2080	c.1552G>A	c.(1552-1554)GAG>AAG	p.E518K	RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc001xqw.2_Missense_Mutation_p.E487K|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	518	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGGTAGGCTCGAACTGCAGC	0.597													T	75373815	C	T	75373815	3	4	193	1	0	0	0	0	1	0	0	0	13659	893	31	1	174	1	RPS6KL1	14	75373815	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1002040	75373815	31975725	1174	106407											
MLH3	27030	broad.mit.edu	37	chr14	75509174	75509174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggttgacacctgtacTgagaccctaaatataagaaa	7	7	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:75509174T>G	uc001xrd.1	-	3	3503	c.3287A>C	c.(3286-3288)CAG>CCG	p.Q1096P	MLH3_uc001xre.1_Missense_Mutation_p.Q1096P|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1096					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACACCTGTACTGAGACCCTAA	0.378								MMR					G	75509174	T	G	75509174	3	3	193	1	0	0	0	0	1	0	0	0	9618	1580	55	5	1118	5	MLH3	14	75509174	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	135359	75509174	31840366	1175	106408											
TTLL5	23093	broad.mit.edu	37	chr14	76249812	76249812	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accattggtcccttttcttcCttccaaagtgctgcacacat	5	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:76249812C>A	uc001xrx.2	+	26	3130	c.2925C>A	c.(2923-2925)TCC>TCA	p.S975S	TTLL5_uc010ask.1_Silent_p.S989S|TTLL5_uc001xrz.2_Silent_p.S550S|TTLL5_uc001xsa.2_Silent_p.S48S|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	975					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCTTTTCTTCCTTCCAAAGTG	0.537													A	76249812	C	A	76249812	2	1	193	1	0	0	0	0	0	0	0	1	16727	668	24	5		5	TTLL5	14	76249812	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	740638	76249812	31099728	1176	106409											
SPTLC2	9517	broad.mit.edu	37	chr14	78063576	78063576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacttttcaattctccAatacctcaagaaatctcgaa	4	11	4	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:78063576A>G	uc001xub.2	-	2	468	c.280T>C	c.(280-282)TGG>CGG	p.W94R		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	94						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAATTCTCCAATACCTCAAG	0.393													G	78063576	A	G	78063576	3	3	193	1	0	0	0	0	1	0	0	0	15123	130	5	3	1452	3	SPTLC2	14	78063576	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1813764	78063576	29285964	1177	106410											
C14orf156	81892	broad.mit.edu	37	chr14	78174534	78174534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttgtgagaagaattcCttggactgcggcgtcgagtg	14	7	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:78174534C>T	uc001xue.3	+	1	110	c.80C>T	c.(79-81)CCT>CTT	p.P27L	ALKBH1_uc001xuc.1_5'Flank|ALKBH1_uc001xud.1_5'Flank	NM_031210	NP_112487	Q9GZT3	SLIRP_HUMAN	SRA stem-loop-interacting RNA-binding protein	27	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	nucleotide binding|RNA binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0276)		AGAAGAATTCCTTGGACTGCG	0.502													T	78174534	C	T	78174534	3	4	193	1	0	0	0	0	1	0	0	0	1754	681	24	4	82	4	C14orf156	14	78174534	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	110958	78174534	29175006	1178	106411											
NRXN3	9369	broad.mit.edu	37	chr14	79181439	79181439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggaaccgcttcatctgCgactgcaccggcaccggata	12	14	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:79181439C>T	uc001xun.2	+	5	1373	c.882C>T	c.(880-882)TGC>TGT	p.C294C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.C428C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	667	EGF-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTTCATCTGCGACTGCACCG	0.572													T	79181439	C	T	79181439	2	4	193	1	0	0	0	0	0	0	0	1	10667	776	27	1		1	NRXN3	14	79181439	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1006905	79181439	28168101	1179	106412											
STON2	85439	broad.mit.edu	37	chr14	81744393	81744393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgtcacgaggctgggacCgtgctgatccaggcgggtga	16	12	1	2	rs150621878		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:81744393C>T	uc010tvu.1	-	4	1463	c.1262G>A	c.(1261-1263)CGG>CAG	p.R421Q	STON2_uc001xvk.1_Missense_Mutation_p.R421Q|STON2_uc010tvt.1_Missense_Mutation_p.R218Q	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	421					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCTGGGACCGTGCTGATCC	0.527													T	81744393	C	T	81744393	3	4	193	1	0	0	0	0	1	0	0	0	15317	652	23	1	1461	1	STON2	14	81744393	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2562954	81744393	25605147	1180	106413											
STON2	85439	broad.mit.edu	37	chr14	81744680	81744680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaagggttgataggggaGggctgtacatcctgcagagt	16	6	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:81744680G>T	uc010tvu.1	-	4	1176	c.975C>A	c.(973-975)CCC>CCA	p.P325P	STON2_uc001xvk.1_Silent_p.P325P|STON2_uc010tvt.1_Silent_p.P122P	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	325					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGATAGGGGAGGGCTGTACAT	0.507													T	81744680	G	T	81744680	2	4	193	1	0	0	0	0	0	0	0	1	15317	987	35	5		5	STON2	14	81744680	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	287	81744680	25604860	1181	106414											
C14orf102	55051	broad.mit.edu	37	chr14	90783061	90783061	+	Frame_Shift_Del	DEL	T	T	-													cttatgatgctgatgcttccTttttttctttttctctttct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:90783060_90783060CT>C	uc001xyi.2	-	2	502	c.269_269AG>G	c.(268-270)aggfs	p.R90fs	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	90	Lys-rich.|Poly-Lys.						protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ctgatgcttcctttttttctt	0.398													-	90783061	T	-	90783061	7	5	193	1	0	1	0	1	0	0	0	0	1735	1608	56	0	3274	0	C14orf102	14	90783061	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	9038381	90783061	16566479	1182	106415											
RIN3	79890	broad.mit.edu	37	chr14	93142923	93142923	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggagtacatgatggagctCatggaccccgccctgcagct	13	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:93142923C>A	uc001yap.2	+	8	2591	c.2439C>A	c.(2437-2439)CTC>CTA	p.L813L	RIN3_uc010auk.2_Silent_p.L475L|RIN3_uc001yaq.2_Silent_p.L738L|RIN3_uc001yas.1_Silent_p.L475L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	813	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TGATGGAGCTCATGGACCCCG	0.617													A	93142923	C	A	93142923	2	1	193	1	0	0	0	0	0	0	0	1	13373	813	29	5		5	RIN3	14	93142923	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2359862	93142923	14206617	1183	106416											
BTBD7	55727	broad.mit.edu	37	chr14	93760502	93760502	+	Frame_Shift_Del	DEL	A	A	-													ctcctttgtaataaatttcgAaaaaatggggaccgtgcaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:93760502delA	uc001ybo.2	-	3	1190	c.864delT	c.(862-864)TTTfs	p.F288fs	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Frame_Shift_Del_p.F203fs|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Frame_Shift_Del_p.F203fs|BTBD7_uc001ybr.2_Frame_Shift_Del_p.F288fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	288	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATAAATTTCGAAAAAATGGGG	0.403													-	93760502	A	-	93760502	7	5	193	1	0	1	0	1	0	0	0	0	1546	243	9	0	2645	0	BTBD7	14	93760502	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	617579	93760502	13589038	1184	106417											
EML1	2009	broad.mit.edu	37	chr14	100380563	100380563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtggccgaggggaaaggCgatgtgatcttgattggcac	16	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:100380563C>T	uc001ygs.2	+	14	1611	c.1542C>T	c.(1540-1542)GGC>GGT	p.G514G	EML1_uc010tww.1_Silent_p.G502G|EML1_uc001ygr.2_Silent_p.G533G	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	514						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGGGGAAAGGCGATGTGATCT	0.468													T	100380563	C	T	100380563	2	4	193	1	0	0	0	0	0	0	0	1	5096	755	27	1		1	EML1	14	100380563	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	6620061	100380563	6968977	1185	106418											
DYNC1H1	1778	broad.mit.edu	37	chr14	102472436	102472436	+	Frame_Shift_Del	DEL	C	C	-													tcaggacaaactggtccagaCccccctcactgaccgctgct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:102472436delC	uc001yks.2	+	27	5809	c.5645delC	c.(5644-5646)ACCfs	p.T1882fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1882	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTGGTCCAGACCCCCCTCACT	0.483													-	102472436	C	-	102472436	7	5	193	1	0	1	0	1	0	0	0	0	4841	507	18	0	5751	0	DYNC1H1	14	102472436	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	2091873	102472436	4877104	1186	106419											
TECPR2	9895	broad.mit.edu	37	chr14	102916927	102916927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatcatgtggttccccgtgGgacagcttctgctacaaaat	10	10	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:102916927G>T	uc001ylw.1	+	15	3495	c.3347G>T	c.(3346-3348)GGG>GTG	p.G1116V	TECPR2_uc010awl.2_Missense_Mutation_p.G1116V|TECPR2_uc010txx.1_Missense_Mutation_p.G279V	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1116							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GTTCCCCGTGGGACAGCTTCT	0.463													T	102916927	G	T	102916927	3	4	193	1	0	0	0	0	1	0	0	0	15741	1232	43	5	3401	5	TECPR2	14	102916927	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	444491	102916927	4432613	1187	106420											
PPP1R13B	23368	broad.mit.edu	37	chr14	104204115	104204115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgtcgcttatggttgAggcaaaaatggcggcaccac	11	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:104204115A>C	uc001yof.1	-	15	3230	c.2947T>G	c.(2947-2949)TCA>GCA	p.S983A	PPP1R13B_uc010awv.1_Intron	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	983	ANK 2.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTTATGGTTGAGGCAAAAATG	0.552													C	104204115	A	C	104204115	3	2	193	1	0	0	0	0	1	0	0	0	12357	304	11	5	337	5	PPP1R13B	14	104204115	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1287188	104204115	3145425	1188	106421											
INF2	64423	broad.mit.edu	37	chr14	105178032	105178032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacagccctcgcaagcaGcagggtaggtagctcctgcc	13	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105178032G>A	uc001ypb.2	+	16	2628	c.2485G>A	c.(2485-2487)GCA>ACA	p.A829T	INF2_uc010tyi.1_Missense_Mutation_p.A829T|INF2_uc001ypc.2_Missense_Mutation_p.A829T|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	829	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		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)		CTCGCAAGCAGCAGGGTAGGT	0.667													A	105178032	G	A	105178032	3	1	193	1	0	0	0	0	1	0	0	0	7734	971	34	2	2547	2	INF2	14	105178032	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	973917	105178032	2171508	1189	106422											
AHNAK2	113146	broad.mit.edu	37	chr14	105406621	105406621	+	Frame_Shift_Del	DEL	C	C	-													tttctgtgtcttgaaagctaCcccctgctgtggcactagaa							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105406621delC	uc010axc.1	-	7	15287	c.15167delG	c.(15166-15168)GGTfs	p.G5056fs	AHNAK2_uc001ypx.2_Frame_Shift_Del_p.G4956fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5056						nucleus				ovary(1)	1		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)			TTGAAAGCTACCCCCTGCTGT	0.547													-	105406621	C	-	105406621	7	5	193	1	0	1	0	1	0	0	0	0	415	507	18	0	2224	0	AHNAK2	14	105406621	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	228589	105406621	1942919	1190	106423											
AHNAK2	113146	broad.mit.edu	37	chr14	105418613	105418613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacatccacctggtcagCctggaccttcaggtcagtag	9	14	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105418613C>T	uc010axc.1	-	7	3295	c.3175G>A	c.(3175-3177)GCT>ACT	p.A1059T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A959T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1059						nucleus				ovary(1)	1		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)			ACCTGGTCAGCCTGGACCTTC	0.612													T	105418613	C	T	105418613	3	4	193	1	0	0	0	0	1	0	0	0	415	739	26	2	14216	2	AHNAK2	14	105418613	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	11992	105418613	1930927	1191	106424											
AHNAK2	113146	broad.mit.edu	37	chr14	105419812	105419812	+	Frame_Shift_Del	DEL	T	T	-													tttctgtcagaatttgttccTtttttaagcgtttttcatcg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105419812delT	uc010axc.1	-	7	2096	c.1976delA	c.(1975-1977)AAGfs	p.K659fs	AHNAK2_uc001ypx.2_Frame_Shift_Del_p.K559fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	659						nucleus				ovary(1)	1		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)			AATTTGTTCCTTTTTTAAGCG	0.423													-	105419812	T	-	105419812	7	5	193	1	0	1	0	1	0	0	0	0	415	1609	56	0	15415	0	AHNAK2	14	105419812	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1199	105419812	1929728	1192	106425											
PACS2	23241	broad.mit.edu	37	chr14	105818792	105818794	+	In_Frame_Del	DEL	CTT	CTT	-													gagacagacctggccctgacCttctccttgcaggtgagtct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105818792_105818794delCTT	uc001yqt.2	+	3	460_462	c.285_287delCTT	c.(283-288)ACCTTC>ACC	p.F96del	PACS2_uc001yqs.2_In_Frame_Del_p.F29del|PACS2_uc001yqv.2_In_Frame_Del_p.F96del|PACS2_uc001yqu.2_In_Frame_Del_p.F96del	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		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)		TGGCCCTGACCTTCTCCTTGCAG	0.606											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	105818794	CTT	-	105818792	7	5	193	1	0	1	0	1	0	0	0	0	11373	668	24	0	295	0	PACS2	14	105818792	In_Frame_Del	DEL	CTT	TCGA-CG-5726-01A-11D-1600-08	398980	105818792	1530748	1193	106426											
PACS2	23241	broad.mit.edu	37	chr14	105849842	105849842	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctacatgcgcttcctggtcaTcccactgggtgagcaccacg	10	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr14:105849842T>A	uc001yqt.2	+	16	1935	c.1760T>A	c.(1759-1761)ATC>AAC	p.I587N	PACS2_uc001yqs.2_Missense_Mutation_p.I512N|PACS2_uc001yqv.2_Missense_Mutation_p.I591N|PACS2_uc001yqu.2_Missense_Mutation_p.I591N	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	587					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		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)		TTCCTGGTCATCCCACTGGGT	0.507													A	105849842	T	A	105849842	3	1	193	1	0	0	0	0	1	0	0	0	11373	1435	50	5	1834	5	PACS2	14	105849842	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	31050	105849842	1499698	1194	106427											
GABRB3	2562	broad.mit.edu	37	chr15	26828515	26828515	+	Frame_Shift_Del	DEL	G	G	-													agtgcagttctgctcgtccaGggggtatctcctgaggtcca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:26828514_26828514AG>A	uc001zbb.3	-	5	780	c.677_677CT>T	c.(676-678)ctgfs	p.L226fs	GABRB3_uc021sgg.1_Frame_Shift_Del_p.L99fs|GABRB3_uc021sgh.1_Frame_Shift_Del_p.L85fs|GABRB3_uc001zaz.3_Frame_Shift_Del_p.L170fs|GABRB3_uc001zba.3_Frame_Shift_Del_p.L170fs	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	170					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel 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)	CTGCTCGTCCAGGGGGTATCT	0.428													-	26828515	G	-	26828515	7	5	193	1	0	1	0	1	0	0	0	0	6168	991	35	0	933	0	GABRB3	15	26828515	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08		26828515	75702877	1195	106428											
HERC2	8924	broad.mit.edu	37	chr15	28443768	28443768	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tataagttccacatgaatgtAcctaacccagtaggtgcccc	7	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:28443768A>T	uc001zbj.2	-	49	7970	c.7864T>A	c.(7864-7866)TAC>AAC	p.Y2622N	HERC2_uc001zbk.1_Missense_Mutation_p.Y157N	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2622					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		ACATGAATGTACCTAACCCAG	0.398													T	28443768	A	T	28443768	3	4	193	1	0	0	0	0	1	0	0	0	7058	391	14	5	6820	5	HERC2	15	28443768	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1615253	28443768	74087624	1196	106429											
HERC2	8924	broad.mit.edu	37	chr15	28446681	28446681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtacgtctggctctccGtcacaacagcaccagtagac	8	13	3	1	rs138887223		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:28446681G>A	uc001zbj.2	-	48	7743	c.7637C>T	c.(7636-7638)ACG>ATG	p.T2546M	HERC2_uc001zbk.1_Missense_Mutation_p.T81M	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2546					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CTGGCTCTCCGTCACAACAGC	0.353													A	28446681	G	A	28446681	3	1	193	1	0	0	0	0	1	0	0	0	7058	1145	40	1	7051	1	HERC2	15	28446681	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2913	28446681	74084711	1197	106430											
APBA2	321	broad.mit.edu	37	chr15	29406137	29406137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtccgtgtgggccaccGcatcatcgagatcaacgggc	15	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:29406137G>A	uc001zck.2	+	13	2303	c.2096G>A	c.(2095-2097)CGC>CAC	p.R699H	APBA2_uc010uat.1_Missense_Mutation_p.R687H|APBA2_uc001zcl.2_Missense_Mutation_p.R687H	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	699	PDZ 2.				nervous system development|protein transport		protein binding				0		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)		GTGGGCCACCGCATCATCGAG	0.607													A	29406137	G	A	29406137	3	1	193	1	0	0	0	0	1	0	0	0	757	1087	38	1	2138	1	APBA2	15	29406137	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	959456	29406137	73125255	1198	106431											
FMN1	342184	broad.mit.edu	37	chr15	33359153	33359153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacttctgcacaggctgCgtcaatttgagcaaagctaa	10	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:33359153C>T	uc001zhf.3	-	1	933	c.933G>A	c.(931-933)ACG>ACA	p.T311T	FMN1_uc001zhg.2_Silent_p.T311T	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		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)		GCACAGGCTGCGTCAATTTGA	0.547													T	33359153	C	T	33359153	2	4	193	1	0	0	0	0	0	0	0	1	5949	755	27	1		1	FMN1	15	33359153	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3953016	33359153	69172239	1199	106432											
RYR3	6263	broad.mit.edu	37	chr15	34049794	34049794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggagaaagaaatggtggCcgggtgagtctacaagataa	14	4	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:34049794C>T	uc001zhi.2	+	60	8772	c.8702C>T	c.(8701-8703)GCC>GTC	p.A2901V	RYR3_uc010bar.2_Missense_Mutation_p.A2901V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2901	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GAAATGGTGGCCGGGTGAGTC	0.483													T	34049794	C	T	34049794	3	4	193	1	0	0	0	0	1	0	0	0	13770	739	26	2	8940	2	RYR3	15	34049794	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	690641	34049794	68481598	1200	106433											
C15orf29	79768	broad.mit.edu	37	chr15	34445168	34445168	+	Frame_Shift_Del	DEL	T	T	-													cccccacttccaggggactgTttttttctgtaacaaggatt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:34445168delT	uc001zhp.2	-	4	421	c.261delA	c.(259-261)AAAfs	p.K87fs	C15orf29_uc010ubz.1_5'UTR|C15orf29_uc010uca.1_Frame_Shift_Del_p.K87fs	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	87						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		CAGGGGACTGTTTTTTTCTGT	0.423													-	34445168	T	-	34445168	7	5	193	1	0	1	0	1	0	0	0	0	1789	1722	60	0	681	0	C15orf29	15	34445168	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	395374	34445168	68086224	1201	106434											
AQR	9716	broad.mit.edu	37	chr15	35182476	35182476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagacgcagtaggtggCgctcatcaatgtctaatgcc	11	11	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:35182476C>T	uc001ziv.2	-	24	2802	c.2621G>A	c.(2620-2622)CGC>CAC	p.R874H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	874						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		CAGTAGGTGGCGCTCATCAAT	0.433													T	35182476	C	T	35182476	3	4	193	1	0	0	0	0	1	0	0	0	835	768	27	1	1884	1	AQR	15	35182476	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	737308	35182476	67348916	1202	106435											
RASGRP1	10125	broad.mit.edu	37	chr15	38786607	38786607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagttcttggtaggtaggCagtctgaggtgacggagctc	15	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:38786607C>T	uc001zke.3	-	16	2413	c.2235G>A	c.(2233-2235)CTG>CTA	p.L745L	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Silent_p.L710L	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	745	PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				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			large_intestine(1)|ovary(1)	2		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)		GGTAGGTAGGCAGTCTGAGGT	0.468													T	38786607	C	T	38786607	2	4	193	1	0	0	0	0	0	0	0	1	13074	697	25	2		2	RASGRP1	15	38786607	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3604131	38786607	63744785	1203	106436											
BMF	90427	broad.mit.edu	37	chr15	40396430	40396430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaatgcactgaagctttCgggcaatctgtacctctgct	9	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:40396430C>T	uc001zkv.2	-	3	490	c.404G>A	c.(403-405)CGA>CAA	p.R135Q	BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Missense_Mutation_p.R135Q	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	135	BH3.				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			ovary(1)	1		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)		CTGAAGCTTTCGGGCAATCTG	0.597													T	40396430	C	T	40396430	3	4	193	1	0	0	0	0	1	0	0	0	1454	884	31	1	158	1	BMF	15	40396430	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1609823	40396430	62134962	1204	106437											
BUB1B	701	broad.mit.edu	37	chr15	40504822	40504822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctgtattgtttggcaCcaatatataaactgcttcac	8	8	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:40504822C>T	uc001zkx.3	+	19	2720	c.2508C>T	c.(2506-2508)CAC>CAT	p.H836H		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	836	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			stomach(2)|ovary(1)|kidney(1)	4		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)		TTGTTTGGCACCAATATATAA	0.328			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				T	40504822	C	T	40504822	2	4	193	1	0	0	0	0	0	0	0	1	1571	506	18	4		4	BUB1B	15	40504822	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	108392	40504822	62026570	1205	106438											
VPS18	57617	broad.mit.edu	37	chr15	41191717	41191717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcttccagttcataggccGagcagcagagggggctgagg	15	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41191717G>A	uc001zne.2	+	4	1040	c.701G>A	c.(700-702)CGA>CAA	p.R234Q		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	234					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		TTCATAGGCCGAGCAGCAGAG	0.627													A	41191717	G	A	41191717	3	1	193	1	0	0	0	0	1	0	0	0	17191	1058	37	1	715	1	VPS18	15	41191717	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	686895	41191717	61339675	1206	106439											
VPS18	57617	broad.mit.edu	37	chr15	41192111	41192111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggagaaatttgggccGctgaagcacatggtgaagga	14	7	0	3	rs140464667	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41192111G>A	uc001zne.2	+	4	1434	c.1095G>A	c.(1093-1095)CCG>CCA	p.P365P		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	365					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		AATTTGGGCCGCTGAAGCACA	0.617													A	41192111	G	A	41192111	2	1	193	1	0	0	0	0	0	0	0	1	17191	1074	38	1		1	VPS18	15	41192111	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	394	41192111	61339281	1207	106440											
VPS18	57617	broad.mit.edu	37	chr15	41192635	41192635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtggctctttgccagccGggcctctatccatgagctgc	12	13	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41192635G>A	uc001zne.2	+	4	1958	c.1619G>A	c.(1618-1620)CGG>CAG	p.R540Q		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	540					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		TTTGCCAGCCGGGCCTCTATC	0.577													A	41192635	G	A	41192635	3	1	193	1	0	0	0	0	1	0	0	0	17191	1116	39	1	1633	1	VPS18	15	41192635	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	524	41192635	61338757	1208	106441											
RTF1	23168	broad.mit.edu	37	chr15	41770764	41770764	+	Frame_Shift_Del	DEL	A	A	-													aggctgaaagtcacaacatgAaaaaccaacagatggatccc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:41770764delA	uc001zny.2	+	15	1771	c.1759delA	c.(1759-1761)AAAfs	p.K587fs		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	587					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		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)		TCACAACATGAAAAACCAACA	0.468													-	41770764	A	-	41770764	7	5	193	1	0	1	0	1	0	0	0	0	13721	247	9	0	1817	0	RTF1	15	41770764	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	578129	41770764	60760628	1209	106442											
MGA	23269	broad.mit.edu	37	chr15	42041783	42041783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcaagaaacgaagaaggTtctacagtcagaaggagagg	14	5	2	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:42041783T>G	uc010ucy.1	+	17	6159	c.5978T>G	c.(5977-5979)GTT>GGT	p.V1993G	MGA_uc010ucz.1_Missense_Mutation_p.V1784G|MGA_uc010uda.1_Missense_Mutation_p.V609G|MGA_uc001zoi.2_Missense_Mutation_p.V207G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1954	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		ACGAAGAAGGTTCTACAGTCA	0.413													G	42041783	T	G	42041783	3	3	193	1	0	0	0	0	1	0	0	0	9540	1725	60	5	6040	5	MGA	15	42041783	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	271019	42041783	60489609	1210	106443											
ZFP106	64397	broad.mit.edu	37	chr15	42734523	42734523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtgggcagcagtgcggCatcaatggatgtttgagatc	17	6	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:42734523C>T	uc001zpw.2	-	7	3777	c.3442G>A	c.(3442-3444)GCC>ACC	p.A1148T	ZFP106_uc001zpu.2_Missense_Mutation_p.A333T|ZFP106_uc001zpv.2_Missense_Mutation_p.A333T|ZFP106_uc001zpx.2_Missense_Mutation_p.A376T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1148						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGCAGTGCGGCATCAATGGAT	0.507													T	42734523	C	T	42734523	3	4	193	1	0	0	0	0	1	0	0	0	17634	710	25	2	2261	2	ZFP106	15	42734523	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	692740	42734523	59796869	1211	106444											
MAP1A	4130	broad.mit.edu	37	chr15	43819801	43819801	+	Frame_Shift_Del	DEL	C	C	-													ccctggcaggacccactgtaCccccaaggccagagccaggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:43819801delC	uc001zrt.2	+	4	6597	c.6130delC	c.(6130-6132)CCCfs	p.P2044fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2044						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	ACCCACTGTACCCCCAAGGCC	0.607													-	43819801	C	-	43819801	7	5	193	1	0	1	0	1	0	0	0	0	9227	507	18	0	6132	0	MAP1A	15	43819801	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1085278	43819801	58711591	1212	106445											
SERINC4	619189	broad.mit.edu	37	chr15	44087241	44087241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggatatgatgcggtggCggcggcgcctcaagataagg	18	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:44087241C>T	uc010bds.1	-	9	1250	c.782G>A	c.(781-783)CGC>CAC	p.R261H	ELL3_uc001zsx.1_Intron|SERF2_uc010uee.1_3'UTR|C15orf63_uc001ztb.2_Intron|SERF2_uc001zsz.3_3'UTR|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_3'UTR|SERINC4_uc001zte.1_Missense_Mutation_p.R261H	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	serine incorporator 4	505					phospholipid biosynthetic process	integral to membrane					0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GATGCGGTGGCGGCGGCGCCT	0.557													T	44087241	C	T	44087241	3	4	193	1	0	0	0	0	1	0	0	0	14082	768	27	1	46	1	SERINC4	15	44087241	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	267440	44087241	58444151	1213	106446											
MFAP1	4236	broad.mit.edu	37	chr15	44105302	44105302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccaatgcagccagggatCgcttgttctcttccagctct	8	14	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:44105302C>T	uc001zth.1	-	6	954	c.770G>A	c.(769-771)CGA>CAA	p.R257Q		NM_005926	NP_005917	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	257						microfibril				skin(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;4.33e-07)		AGCCAGGGATCGCTTGTTCTC	0.438													T	44105302	C	T	44105302	3	4	193	1	0	0	0	0	1	0	0	0	9513	884	31	1	565	1	MFAP1	15	44105302	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	18061	44105302	58426090	1214	106447											
C15orf43	145645	broad.mit.edu	37	chr15	45249094	45249094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcttacctccacagTggctgaagggggaacgatca	12	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:45249094T>C	uc001zuk.2	+	2	82	c.65T>C	c.(64-66)GTG>GCG	p.V22A		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	22											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ACCTCCACAGTGGCTGAAGGG	0.602													C	45249094	T	C	45249094	3	2	193	1	0	0	0	0	1	0	0	0	1797	1710	59	3	71	3	C15orf43	15	45249094	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1143792	45249094	57282298	1215	106448											
SEMA6D	80031	broad.mit.edu	37	chr15	48054512	48054512	+	Frame_Shift_Del	DEL	A	A	-													aaatatgattccaaatggatAaaaggtacctttgaagagca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:48054511_48054511TA>T	uc010bek.3	+	7	1013	c.653_653TA>T	c.(652-654)atafs	p.I218fs	SEMA6D_uc001zvw.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zvx.1_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zvy.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zvz.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zwa.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zwb.3_Frame_Shift_Del_p.I218fs|SEMA6D_uc001zwc.3_Frame_Shift_Del_p.I218fs	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	218	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)		TCCAAATGGATAAAAGGTACC	0.512													-	48054512	A	-	48054512	7	5	193	1	0	1	0	1	0	0	0	0	14042	352	13	0	680	0	SEMA6D	15	48054512	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2805418	48054512	54476880	1216	106449											
FBN1	2200	broad.mit.edu	37	chr15	48797224	48797225	+	Splice_Site	INS	-	-	AC													ccatgatgttttcttaccaaINScacacacacggccatccaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:48797223_48797224A>AAC	uc001zwx.2	-	16	2355	c.1960_splice	c.e16+1	p.D654_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	654			D -> N (in MFS).		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)		TTTTCTTACCAACACACACACG	0.49													AC	48797225	-	AC	48797224	8	5	193	1	0	1	1	0	0	0	1	0	5702	43	2	0	6861	0	FBN1	15	48797224	Splice_Site	INS	-	TCGA-CG-5726-01A-11D-1600-08	742712	48797224	53734168	1217	106450											
CEP152	22995	broad.mit.edu	37	chr15	49030679	49030679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtatggagtttgataacGctgacatttcattgtttgac	10	6	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:49030679G>A	uc001zwy.2	-	26	4766	c.4732C>T	c.(4732-4734)CGT>TGT	p.R1578C	CEP152_uc001zwz.2_Missense_Mutation_p.R1634C	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1578					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTTTGATAACGCTGACATTTC	0.383													A	49030679	G	A	49030679	3	1	193	1	0	0	0	0	1	0	0	0	3248	1087	38	1	236	1	CEP152	15	49030679	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	233455	49030679	53500713	1218	106451											
HDC	3067	broad.mit.edu	37	chr15	50534778	50534778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggtggcatctggggcCtcttctgaaaagcagtcatc	12	10	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:50534778C>T	uc001zxz.2	-	12	1774	c.1668G>A	c.(1666-1668)GAG>GAA	p.E556E	HDC_uc001zxy.2_Silent_p.E299E|HDC_uc010uff.1_Silent_p.E523E	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	556					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATCTGGGGCCTCTTCTGAAA	0.537													T	50534778	C	T	50534778	2	4	193	1	0	0	0	0	0	0	0	1	7015	680	24	4		4	HDC	15	50534778	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1504099	50534778	51996614	1219	106452											
TRPM7	54822	broad.mit.edu	37	chr15	50867312	50867312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgaactctcttccaaacGatacactgtgacaggctccc	9	13	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:50867312G>A	uc001zyt.3	-	34	5020	c.4756C>T	c.(4756-4758)CGT>TGT	p.R1586C	TRPM7_uc001zyr.2_Missense_Mutation_p.R23C	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1586	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTTCCAAACGATACACTGTG	0.363													A	50867312	G	A	50867312	3	1	193	1	0	0	0	0	1	0	0	0	16588	1058	37	1	865	1	TRPM7	15	50867312	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	332534	50867312	51664080	1220	106453											
CYP19A1	1588	broad.mit.edu	37	chr15	51504657	51504657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcttctaaggctttgcGcatgaccaagtccacgacag	8	12	3	1	rs121434536		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:51504657G>A	uc001zyz.3	-	10	1374	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C	CYP19A1_uc001zza.3_Missense_Mutation_p.R375C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R375C	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	375			R -> L.|R -> C (in AROD).		estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				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													A	51504657	G	A	51504657	3	1	193	1	0	0	0	0	1	0	0	0	4148	1087	38	1	396	1	CYP19A1	15	51504657	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	637345	51504657	51026735	1221	106454											
LEO1	123169	broad.mit.edu	37	chr15	52244164	52244164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctatgtgtggcactgtcCgtagagtgaggtctgccagg	14	8	2	2	rs142218056		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:52244164C>T	uc002abo.2	-	9	1504	c.1488G>A	c.(1486-1488)ACG>ACA	p.T496T	LEO1_uc010bfd.2_Silent_p.T436T	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	496					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		TGGCACTGTCCGTAGAGTGAG	0.448													T	52244164	C	T	52244164	2	4	193	1	0	0	0	0	0	0	0	1	8726	639	23	1		1	LEO1	15	52244164	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	739507	52244164	50287228	1222	106455											
MYO5A	4644	broad.mit.edu	37	chr15	52606371	52606371	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaaactcattaacTggagtatacaaattcaacac	3	10	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:52606371T>C	uc002aby.2	-	40	5608	c.5364A>G	c.(5362-5364)CCA>CCG	p.P1788P	MYO5A_uc002abx.3_Silent_p.P1761P|MYO5A_uc010ugd.1_Silent_p.P510P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1788	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTCATTAACTGGAGTATACA	0.348													C	52606371	T	C	52606371	2	2	193	1	0	0	0	0	0	0	0	1	10078	1567	55	3		3	MYO5A	15	52606371	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	362207	52606371	49925021	1223	106456											
WDR72	256764	broad.mit.edu	37	chr15	54025295	54025295	+	Frame_Shift_Del	DEL	G	G	-													catgatggcagtgatgctgtGgggaggggccttctgtcccc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:54025294_54025294TG>T	uc002acj.2	-	1	95	c.53_53CA>A	c.(52-54)cacfs	p.H18fs	WDR72_uc010bfi.1_Frame_Shift_Del_p.H18fs	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	18										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)		AGTGATGCTGTGGGGAGGGGC	0.512													-	54025295	G	-	54025295	7	5	193	1	0	1	0	1	0	0	0	0	17319	1348	47	0	3332	0	WDR72	15	54025295	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	1418924	54025295	48506097	1224	106457											
UNC13C	440279	broad.mit.edu	37	chr15	54586261	54586261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatgtctggtacaacttAggtgatttttttttttatct	8	4	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:54586261A>C	uc002ack.2	+	9	3987	c.3987A>C	c.(3985-3987)TTA>TTC	p.L1329F	UNC13C_uc002acl.2_Missense_Mutation_p.L159F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1329					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGTACAACTTAGGTGATTTTT	0.353													C	54586261	A	C	54586261	3	2	193	1	0	0	0	0	1	0	0	0	16983	434	15	5	4021	5	UNC13C	15	54586261	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	560966	54586261	47945131	1225	106458											
VPS13C	54832	broad.mit.edu	37	chr15	62261614	62261616	+	In_Frame_Del	DEL	TCT	TCT	-													cattaaatactagaattgtaTcttcttctttctgctgttta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:62261613_62261615ATCT>A	uc002agz.3	-	27	2885_2887	c.2794_2796AGAT>T	c.(2794-2796)gat>T	p.D932del	VPS13C_uc002aha.3_In_Frame_Del_p.D889del|VPS13C_uc002ahb.2_In_Frame_Del_p.D932del|VPS13C_uc002ahc.2_In_Frame_Del_p.D889del	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	932					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						CTAGAATTGTATCTTCTTCTTTC	0.291													-	62261616	TCT	-	62261614	7	5	193	1	0	1	0	1	0	0	0	0	17188	1435	50	0	8726	0	VPS13C	15	62261614	In_Frame_Del	DEL	TCT	TCGA-CG-5726-01A-11D-1600-08	7675353	62261614	40269778	1226	106459											
TLN2	83660	broad.mit.edu	37	chr15	63044602	63044602	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgcatccaaggctctctgTgggctgacagaggctgcagc	13	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:63044602T>A	uc002alb.3	+	32	4308	c.4308T>A	c.(4306-4308)TGT>TGA	p.C1436*	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1436					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGGCTCTCTGTGGGCTGACAG	0.597													A	63044602	T	A	63044602	4	1	193	1	0	0	0	0	0	1	0	0	15945	1702	59	5	4434	5	TLN2	15	63044602	Nonsense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	782988	63044602	39486790	1227	106460											
TLN2	83660	broad.mit.edu	37	chr15	63053883	63053883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttctcccatcaggccCtggatggggatttctctgaa	10	11	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:63053883C>A	uc002alb.3	+	35	4642	c.4642C>A	c.(4642-4644)CTG>ATG	p.L1548M	TLN2_uc002alc.3_Translation_Start_Site|TLN2_uc002ald.2_Translation_Start_Site	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1548					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CCATCAGGCCCTGGATGGGGA	0.493													A	63053883	C	A	63053883	3	1	193	1	0	0	0	0	1	0	0	0	15945	680	24	5	4780	5	TLN2	15	63053883	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	9281	63053883	39477509	1228	106461											
TPM1	7168	broad.mit.edu	37	chr15	63356328	63356328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggaccacgctctcaacGatatgacttccatgtaaacg	8	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:63356328G>A	uc002alg.2	+	9	1029	c.838G>A	c.(838-840)GAT>AAT	p.D280N	TPM1_uc002alh.2_Missense_Mutation_p.D280N|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Intron|TPM1_uc002alj.2_Intron|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Intron|TPM1_uc010uie.1_Missense_Mutation_p.D280N|TPM1_uc002alp.2_Missense_Mutation_p.D280N|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Intron|TPM1_uc010uig.1_Intron|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	280	By similarity.				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				0						CGCTCTCAACGATATGACTTC	0.498													A	63356328	G	A	63356328	3	1	193	1	0	0	0	0	1	0	0	0	16402	1058	37	1	1218	1	TPM1	15	63356328	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	302445	63356328	39175064	1229	106462											
ZNF609	23060	broad.mit.edu	37	chr15	64792134	64792134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagcaagaaggagagaagCgaaggagtggggacttgttc	17	4	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:64792134C>T	uc002ann.2	+	1	516	c.516C>T	c.(514-516)AGC>AGT	p.S172S	ZNF609_uc010bgy.2_Silent_p.S172S	NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	172						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AGGAGAGAAGCGAAGGAGTGG	0.557													T	64792134	C	T	64792134	2	4	193	1	0	0	0	0	0	0	0	1	18032	767	27	1		1	ZNF609	15	64792134	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1435806	64792134	37739258	1230	106463											
PIF1	80119	broad.mit.edu	37	chr15	65110214	65110214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgactgaggagctggccCccggtggcctgcaccgtcca	14	16	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:65110214C>T	uc002ant.2	-	11	1671	c.1605G>A	c.(1603-1605)GGG>GGA	p.G535G	PIF1_uc002anr.2_Silent_p.G83G|PIF1_uc002ans.2_Silent_p.G226G|PIF1_uc010uiq.1_Silent_p.G535G	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	535	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						GGAGCTGGCCCCCGGTGGCCT	0.667													T	65110214	C	T	65110214	2	4	193	1	0	0	0	0	0	0	0	1	11883	610	22	4		4	PIF1	15	65110214	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	318080	65110214	37421178	1231	106464											
IGDCC3	9543	broad.mit.edu	37	chr15	65621335	65621335	+	Frame_Shift_Del	DEL	G	G	-													ggaggccagggcctccatctGggggtggtggggcagccgcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:65621335delG	uc002aos.2	-	14	2609	c.2357delC	c.(2356-2358)CCAfs	p.P786fs	IGDCC3_uc002aor.1_Frame_Shift_Del_p.P72fs	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	786	Poly-Pro.|Cytoplasmic (Potential).									ovary(3)	3						GCCTCCATCTGGGGGTGGTGG	0.697													-	65621335	G	-	65621335	7	5	193	1	0	1	0	1	0	0	0	0	7568	1348	47	0	91	0	IGDCC3	15	65621335	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	511121	65621335	36910057	1232	106465											
CORO2B	10391	broad.mit.edu	37	chr15	69011561	69011561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccggatgaatggctgggaGgcatcaaccgaggtaccaca	13	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:69011561G>T	uc002arj.3	+	10	1188	c.1159G>T	c.(1159-1161)GGC>TGC	p.G387C	CORO2B_uc010bic.2_Missense_Mutation_p.G382C|CORO2B_uc002ark.2_Missense_Mutation_p.G154C	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	387					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						ATGGCTGGGAGGCATCAACCG	0.602													T	69011561	G	T	69011561	3	4	193	1	0	0	0	0	1	0	0	0	3757	1000	35	5	1197	5	CORO2B	15	69011561	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3390226	69011561	33519831	1233	106466											
KIF23	9493	broad.mit.edu	37	chr15	69733281	69733281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacatctattgcaaggCgtaggcagcaggagccagga	13	9	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:69733281C>T	uc002asb.2	+	18	2359	c.2242C>T	c.(2242-2244)CGT>TGT	p.R748C	KIF23_uc002asc.2_Intron|KIF23_uc010bii.2_Missense_Mutation_p.R638C|KIF23_uc010ukc.1_Intron	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	748					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						TATTGCAAGGCGTAGGCAGCA	0.483													T	69733281	C	T	69733281	3	4	193	1	0	0	0	0	1	0	0	0	8291	768	27	1	2312	1	KIF23	15	69733281	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	721720	69733281	32798111	1234	106467											
ARIH1	25820	broad.mit.edu	37	chr15	72873215	72873215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacaacatgtcctggatTgaggtgcagttcctgaagaa	11	9	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:72873215T>C	uc002aut.3	+	12	1673	c.1359T>C	c.(1357-1359)ATT>ATC	p.I453I		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	453					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding				0						TGTCCTGGATTGAGGTGCAGT	0.468													C	72873215	T	C	72873215	2	2	193	1	0	0	0	0	0	0	0	1	923	1800	63	3		3	ARIH1	15	72873215	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3139934	72873215	29658177	1235	106468											
ISLR	3671	broad.mit.edu	37	chr15	74467395	74467395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccggctgccaggcttgCcggagggtgccttcagggag	16	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:74467395C>A	uc002axg.1	+	2	478	c.196C>A	c.(196-198)CCG>ACG	p.P66T	ISLR_uc002axh.1_Missense_Mutation_p.P66T	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	66	LRR 1.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						GCCAGGCTTGCCGGAGGGTGC	0.667													A	74467395	C	A	74467395	3	1	193	1	0	0	0	0	1	0	0	0	7858	739	26	5	198	5	ISLR	15	74467395	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1594180	74467395	28063997	1236	106469											
CLK3	1198	broad.mit.edu	37	chr15	74920982	74920982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggtgatgatggagaAgatcctagggcccatcccat	12	11	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:74920982A>C	uc010uln.1	+	11	2068	c.1607A>C	c.(1606-1608)AAG>ACG	p.K536T	CLK3_uc002ayg.3_Missense_Mutation_p.K388T|CLK3_uc002ayh.3_Missense_Mutation_p.K167T|CLK3_uc002ayj.3_Missense_Mutation_p.K365T|CLK3_uc002ayk.3_Missense_Mutation_p.K315T|CLK3_uc002ayl.3_Missense_Mutation_p.K221T	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	536	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						ATGATGGAGAAGATCCTAGGG	0.542													C	74920982	A	C	74920982	3	2	193	1	0	0	0	0	1	0	0	0	3538	72	3	5	1649	5	CLK3	15	74920982	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	453587	74920982	27610410	1237	106470											
NEIL1	79661	broad.mit.edu	37	chr15	75641567	75641567	+	Frame_Shift_Del	DEL	C	C	-													ttttacacggccccgcctggCccccggctcgccctatgttt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:75641566_75641566GC>G	uc002bae.3	+	1	731	c.578_578GC>G	c.(577-579)ggcfs	p.G193fs	NEIL1_uc002bad.3_Frame_Shift_Del_p.G107fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	107					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCCCCGCCTGGCCCCCGGCTC	0.697								Base excision repair (BER), DNA glycosylases					-	75641567	C	-	75641567	7	5	193	1	0	1	0	1	0	0	0	0	10318	726	26	0	323	0	NEIL1	15	75641567	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	720585	75641567	26889825	1238	106471											
SIN3A	25942	broad.mit.edu	37	chr15	75664509	75664509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccatttatctacccaggcCtggaatctctgatgtagacg	9	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:75664509C>A	uc002bai.2	-	21	3892	c.3633G>T	c.(3631-3633)CAG>CAT	p.Q1211H	SIN3A_uc002baj.2_Missense_Mutation_p.Q1211H|SIN3A_uc010uml.1_Missense_Mutation_p.Q1211H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1211					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CTACCCAGGCCTGGAATCTCT	0.493													A	75664509	C	A	75664509	3	1	193	1	0	0	0	0	1	0	0	0	14325	680	24	5	192	5	SIN3A	15	75664509	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	22942	75664509	26866883	1239	106472											
NRG4	145957	broad.mit.edu	37	chr15	76301629	76301629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgggaccacagggctcttCgtgatctagaacacatacat	9	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:76301629C>T	uc002bbo.2	-	3	200	c.16G>A	c.(16-18)GAA>AAA	p.E6K	NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	neuregulin 4	6	Extracellular (Potential).|EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity				0						CAGGGCTCTTCGTGATCTAGA	0.383													T	76301629	C	T	76301629	3	4	193	1	0	0	0	0	1	0	0	0	10650	893	31	1	347	1	NRG4	15	76301629	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	637120	76301629	26229763	1240	106473											
SGK269	79834	broad.mit.edu	37	chr15	77471360	77471360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtgaaccagtgatggCgctgaactggaggaggaggc	16	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:77471360C>T	uc002bcm.2	-	3	3217	c.2909G>A	c.(2908-2910)CGC>CAC	p.R970H	SGK269_uc002bcn.2_Missense_Mutation_p.R970H	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	970					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CCAGTGATGGCGCTGAACTGG	0.537													T	77471360	C	T	77471360	3	4	193	1	0	0	0	0	1	0	0	0	14211	768	27	1	2347	1	SGK269	15	77471360	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1169731	77471360	25060032	1241	106474											
CHRNA3	1136	broad.mit.edu	37	chr15	78894269	78894269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtagaacaagggcaggcGccggatgtacagcgagtatg	17	7	0	1	rs61737495		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:78894269G>A	uc002bec.2	-	5	901	c.715C>T	c.(715-717)CGC>TGC	p.R239C	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.R239C	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	239	Extracellular (Potential).				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)|ovary(1)	4						AAGGGCAGGCGCCGGATGTAC	0.557													A	78894269	G	A	78894269	3	1	193	1	0	0	0	0	1	0	0	0	3384	1087	38	1	895	1	CHRNA3	15	78894269	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1422909	78894269	23637123	1242	106475											
KIAA1199	57214	broad.mit.edu	37	chr15	81176550	81176550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccaagaaagagagtgaaCgtctggtccagtatttgaac	11	7	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:81176550C>T	uc002bfw.1	+	6	912	c.652C>T	c.(652-654)CGT>TGT	p.R218C	KIAA1199_uc010unn.1_Missense_Mutation_p.R218C	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	218										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AGAGAGTGAACGTCTGGTCCA	0.473													T	81176550	C	T	81176550	3	4	193	1	0	0	0	0	1	0	0	0	8213	536	19	1	670	1	KIAA1199	15	81176550	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2282281	81176550	21354842	1243	106476											
EFTUD1	79631	broad.mit.edu	37	chr15	82444436	82444436	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaatcatgtgagtattttCaccctcattcaaagaggatg	8	7	4	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:82444436C>T	uc002bgt.1	-	18	2528	c.2359G>A	c.(2359-2361)GAA>AAA	p.E787K	EFTUD1_uc002bgs.1_Missense_Mutation_p.E158K|EFTUD1_uc002bgu.1_Missense_Mutation_p.E736K	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	787					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TGAGTATTTTCACCCTCATTC	0.423													T	82444436	C	T	82444436	3	4	193	1	0	0	0	0	1	0	0	0	4960	835	29	4	1015	4	EFTUD1	15	82444436	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1267886	82444436	20086956	1244	106477											
FSD2	123722	broad.mit.edu	37	chr15	83451733	83451733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtgtttccaagatctcGttgtaatgtgactcaaagtt	9	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:83451733G>A	uc002bjd.2	-	4	947	c.780C>T	c.(778-780)AAC>AAT	p.N260N	FSD2_uc010uol.1_Silent_p.N260N|FSD2_uc010uom.1_Silent_p.N260N	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	260	Potential.									central_nervous_system(1)	1						CCAAGATCTCGTTGTAATGTG	0.383													A	83451733	G	A	83451733	2	1	193	1	0	0	0	0	0	0	0	1	6071	1136	40	1		1	FSD2	15	83451733	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1007297	83451733	19079659	1245	106478											
WHAMM	123720	broad.mit.edu	37	chr15	83499687	83499687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccccaccccctcctctcCgtgctctgtcctcatcctct	4	24	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:83499687C>T	uc002bje.2	+	9	2484	c.1978C>T	c.(1978-1980)CGT>TGT	p.R660C		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	660						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						CCCTCCTCTCCGTGCTCTGTC	0.368													T	83499687	C	T	83499687	3	4	193	1	0	0	0	0	1	0	0	0	17358	652	23	1	2012	1	WHAMM	15	83499687	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	47954	83499687	19031705	1246	106479											
AKAP13	11214	broad.mit.edu	37	chr15	86287017	86287017	+	Frame_Shift_Del	DEL	A	A	-													agccaaaggaaaagaaggagAaaaaaaagaagaacaaaacc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:86287016_86287016GA>G	uc002blv.1	+	35	8522	c.8352_8352GA>G	c.(8350-8352)gagfs	p.E2784fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.E2788fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.E1249fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.E1029fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2784	Interaction with ESR1.|Poly-Lys.				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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|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						AAAAGAAGGAGAAAAAAAAGA	0.547													-	86287017	A	-	86287017	7	5	193	1	0	1	0	1	0	0	0	0	449	247	9	0	8561	0	AKAP13	15	86287017	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2787330	86287017	16244375	1247	106480											
KLHL25	64410	broad.mit.edu	37	chr15	86312998	86312998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacgttcatggaccccGtgctgctccgcgacttgcgg	15	13	1	1	rs149329403	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:86312998G>A	uc002bly.2	-	2	247	c.44C>T	c.(43-45)ACG>ATG	p.T15M		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	15						cytoplasm				ovary(2)	2						CATGGACCCCGTGCTGCTCCG	0.622													A	86312998	G	A	86312998	3	1	193	1	0	0	0	0	1	0	0	0	8380	1145	40	1	1729	1	KLHL25	15	86312998	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	25981	86312998	16218394	1248	106481											
AEN	64782	broad.mit.edu	37	chr15	89173290	89173290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttggctctcgtcagtaggTgggccagcacgggcactcat	14	11	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:89173290T>C	uc002bmt.2	+	4	894	c.743T>C	c.(742-744)GTG>GCG	p.V248A	AEN_uc010bnm.1_Missense_Mutation_p.V248A	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	248	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						CGTCAGTAGGTGGGCCAGCAC	0.617													C	89173290	T	C	89173290	3	2	193	1	0	0	0	0	1	0	0	0	351	1710	59	3	753	3	AEN	15	89173290	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2860292	89173290	13358102	1249	106482											
SEMA4B	10509	broad.mit.edu	37	chr15	90763066	90763066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatcctcctgccgctcagCggcagtcacctgttcacctg	9	16	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:90763066C>T	uc002boy.2	+	5	709	c.426C>T	c.(424-426)AGC>AGT	p.S142S	SEMA4B_uc002boz.2_Silent_p.S142S|SEMA4B_uc010uqd.1_5'UTR|SEMA4B_uc002bpa.2_5'UTR|SEMA4B_uc010bnv.1_5'Flank	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	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)			TGCCGCTCAGCGGCAGTCACC	0.612											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	90763066	C	T	90763066	2	4	193	1	0	0	0	0	0	0	0	1	14032	767	27	1		1	SEMA4B	15	90763066	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1589776	90763066	11768326	1250	106483											
TTLL13	440307	broad.mit.edu	37	chr15	90800434	90800434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcacatcctgtgaccCtctccggatcttcacatatg	6	15	4	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:90800434C>A	uc002bpd.1	+	7	1058	c.770C>A	c.(769-771)CCT>CAT	p.P257H	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	257	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	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)			TCCTGTGACCCTCTCCGGATC	0.517													A	90800434	C	A	90800434	3	1	193	1	0	0	0	0	1	0	0	0	16723	681	24	5	792	5	TTLL13	15	90800434	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	37368	90800434	11730958	1251	106484											
IGF1R	3480	broad.mit.edu	37	chr15	99491899	99491899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgcttcgtcatggagggCggccttctggacaagccaga	13	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:99491899C>T	uc002bul.2	+	20	3734	c.3684C>T	c.(3682-3684)GGC>GGT	p.G1228G	IGF1R_uc010bon.2_Silent_p.G1227G	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1228	Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	TCATGGAGGGCGGCCTTCTGG	0.572													T	99491899	C	T	99491899	2	4	193	1	0	0	0	0	0	0	0	1	7571	755	27	1		1	IGF1R	15	99491899	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	8691465	99491899	3039493	1252	106485											
ADAMTS17	170691	broad.mit.edu	37	chr15	100649204	100649204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacgtcacctggcacttgCcgtgcacgcagagatcagtc	11	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:100649204C>T	uc002bvv.1	-	14	2085	c.2006G>A	c.(2005-2007)GGC>GAC	p.G669D	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G426D	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	669	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTGGCACTTGCCGTGCACGCA	0.632													T	100649204	C	T	100649204	3	4	193	1	0	0	0	0	1	0	0	0	262	739	26	2	1317	2	ADAMTS17	15	100649204	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1157305	100649204	1882188	1253	106486											
ADAMTS17	170691	broad.mit.edu	37	chr15	100692868	100692868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacaggatctggcactgCtcgttggcactgtagtgcat	11	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:100692868C>T	uc002bvv.1	-	10	1501	c.1422G>A	c.(1420-1422)GAG>GAA	p.E474E	ADAMTS17_uc002bvx.1_Silent_p.E231E	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	474	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCTGGCACTGCTCGTTGGCAC	0.597													T	100692868	C	T	100692868	2	4	193	1	0	0	0	0	0	0	0	1	262	796	28	2		2	ADAMTS17	15	100692868	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	43664	100692868	1838524	1254	106487											
LRRK1	79705	broad.mit.edu	37	chr15	101565157	101565157	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaacctccagttctgGctgctcaacatcgaggtgag	12	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr15:101565157G>T	uc002bwr.2	+	16	2536	c.2217G>T	c.(2215-2217)TGG>TGT	p.W739C	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	739	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			TCCAGTTCTGGCTGCTCAACA	0.617													T	101565157	G	T	101565157	3	4	193	1	0	0	0	0	1	0	0	0	9032	1212	42	5	2275	5	LRRK1	15	101565157	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	872289	101565157	966235	1255	106488											
PDIA2	64714	broad.mit.edu	37	chr16	334457	334457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgccgtgctcgcggcCgagtcaatggtggtcacgct	15	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:334457C>T	uc002cgn.1	+	7	1378	c.270C>T	c.(268-270)GCC>GCT	p.A90A	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Silent_p.A90A	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	90	Thioredoxin 1.				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			central_nervous_system(1)|skin(1)	2		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)				TGCTCGCGGCCGAGTCAATGG	0.682													T	334457	C	T	334457	2	4	193	1	0	0	0	0	0	0	0	1	11668	639	23	1		1	PDIA2	16	334457	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08		334457	90020296	1256	106489											
TMEM8A	58986	broad.mit.edu	37	chr16	426284	426285	+	Frame_Shift_Ins	INS	-	-	C													cgacaccacgtccatgtcctINScccgcgtgactgggtagttt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:426284_426285insC	uc002cgu.3	-	6	1204_1205	c.1075_1076insG	c.(1075-1077)GAGfs	p.E359fs	TMEM8A_uc002cgv.3_Frame_Shift_Ins_p.E166fs	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	359	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						GTCCATGTCCTCCCGCGTGACT	0.668													C	426285	-	C	426284	7	5	193	1	0	1	1	0	0	0	0	0	16211	1551	54	0	1271	0	TMEM8A	16	426284	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	91827	426284	89928469	1257	106490	514	2									
TMEM8A	58986	broad.mit.edu	37	chr16	426285	426286	+	Frame_Shift_Ins	INS	-	-	C													gacaccacgtccatgtcctcINSccgcgtgactgggtagtttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:426284_426285T>TC	uc002cgu.4	-	5	1204_1205	c.1075_1076A>GA	c.(1075-1077)gagfs	p.E359fs	TMEM8A_uc002cgv.4_Frame_Shift_Ins_p.E166fs	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	359					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GTCCATGTCCTCCCGCGTGACT	0.668													C	426286	-	C	426285	7	5	193	1	0	1	1	0	0	0	0	0	16211	864	30	0	1272	0	TMEM8A	16	426285	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	426285	89928468	1258	106491	514	2									
CCDC78	124093	broad.mit.edu	37	chr16	774189	774189	+	Frame_Shift_Del	DEL	G	G	-													ggctatgtcaaaaatagcttGggggttcccaggtgccctgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:774189delG	uc002cjg.2	-	10	1076	c.970delC	c.(970-972)CAAfs	p.Q324fs	CCDC78_uc002cjf.2_Frame_Shift_Del_p.Q173fs|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Frame_Shift_Del_p.Q83fs|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	324										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				AAAATAGCTTGGGGGTTCCCA	0.592													-	774189	G	-	774189	7	5	193	1	0	1	0	1	0	0	0	0	2852	1357	47	0	366	0	CCDC78	16	774189	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	347904	774189	89580564	1259	106492											
CCDC78	124093	broad.mit.edu	37	chr16	774354	774354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagctcttcatgcctgcgGctcagatccaccagcctctt	8	15	4	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:774354G>A	uc002cjg.2	-	9	1027	c.921C>T	c.(919-921)AGC>AGT	p.S307S	CCDC78_uc002cjf.2_Silent_p.S156S|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Silent_p.S66S|CCDC78_uc010uuo.1_3'UTR|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	307										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				CATGCCTGCGGCTCAGATCCA	0.647													A	774354	G	A	774354	2	1	193	1	0	0	0	0	0	0	0	1	2852	1194	42	2		2	CCDC78	16	774354	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	165	774354	89580399	1260	106493											
CACNA1H	8912	broad.mit.edu	37	chr16	1255203	1255203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaagctgctggcctgCggccctctgggctacatccg	13	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:1255203C>T	uc002cks.2	+	11	2789	c.2541C>T	c.(2539-2541)TGC>TGT	p.C847C	CACNA1H_uc002ckt.2_Silent_p.C847C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	847	II.|Helical; Name=S2 of repeat II; (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCTGGCCTGCGGCCCTCTGG	0.612													T	1255203	C	T	1255203	2	4	193	1	0	0	0	0	0	0	0	1	2545	776	27	1		1	CACNA1H	16	1255203	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	480849	1255203	89099550	1261	106494											
CACNA1H	8912	broad.mit.edu	37	chr16	1257402	1257402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcaacctgctggtggCcatcctcgtggagggcttcc	12	14	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:1257402C>T	uc002cks.2	+	14	3283	c.3035C>T	c.(3034-3036)GCC>GTC	p.A1012V	CACNA1H_uc002ckt.2_Missense_Mutation_p.A1012V|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1012	II.|Helical; Name=S6 of repeat II; (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGCTGGTGGCCATCCTCGTG	0.647													T	1257402	C	T	1257402	3	4	193	1	0	0	0	0	1	0	0	0	2545	739	26	2	3085	2	CACNA1H	16	1257402	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2199	1257402	89097351	1262	106495											
IGFALS	3483	broad.mit.edu	37	chr16	1842147	1842147	+	Frame_Shift_Del	DEL	G	G	-													agaggttctggaaggctgccGgggggacggacgagaggttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:1842147delG	uc002cmy.2	-	2	353	c.272delC	c.(271-273)CCGfs	p.P91fs	IGFALS_uc010uvn.1_Frame_Shift_Del_p.P129fs|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	91	LRR 1.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GAAGGCTGCCGGGGGGACGGA	0.682													-	1842147	G	-	1842147	7	5	193	1	0	1	0	1	0	0	0	0	7577	1116	39	0	1549	0	IGFALS	16	1842147	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	584745	1842147	88512606	1263	106496											
PKD1	5310	broad.mit.edu	37	chr16	2140354	2140354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caactccaccatctcgtagtCctggggctcccaggccggcc	10	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2140354C>T	uc002cos.1	-	45	12585	c.12376G>A	c.(12376-12378)GAC>AAC	p.D4126N	PKD1_uc002cot.1_Missense_Mutation_p.D4125N|MIR1225_hsa-mir-1225|MI0006311_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4126	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ATCTCGTAGTCCTGGGGCTCC	0.677													T	2140354	C	T	2140354	3	4	193	1	0	0	0	0	1	0	0	0	11963	855	30	4	543	4	PKD1	16	2140354	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	298207	2140354	88214399	1264	106497											
PKD1	5310	broad.mit.edu	37	chr16	2164381	2164381	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaggggcagccgggcacGaaggtggccaccagggcagg	18	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2164381G>A	uc002cos.1	-	11	2852	c.2643C>T	c.(2641-2643)TTC>TTT	p.F881F	PKD1_uc002cot.1_Silent_p.F881F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	881	Extracellular (Potential).|PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGCCGGGCACGAAGGTGGCCA	0.662													A	2164381	G	A	2164381	2	1	193	1	0	0	0	0	0	0	0	1	11963	1049	37	1		1	PKD1	16	2164381	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	24027	2164381	88190372	1265	106498											
E4F1	1877	broad.mit.edu	37	chr16	2282806	2282806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagagcttccgggagtcGggtgcactgacccggcacct	15	12	0	2	rs139438270	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2282806G>A	uc002cpm.2	+	6	828	c.780G>A	c.(778-780)TCG>TCA	p.S260S	E4F1_uc010bsi.2_Silent_p.S260S|E4F1_uc010bsj.2_Silent_p.S260S	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	260	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.|C2H2-type 3; degenerate.				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						TCCGGGAGTCGGGTGCACTGA	0.602													A	2282806	G	A	2282806	2	1	193	1	0	0	0	0	0	0	0	1	4874	1103	39	1		1	E4F1	16	2282806	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	118425	2282806	88071947	1266	106499											
SRRM2	23524	broad.mit.edu	37	chr16	2813626	2813627	+	Frame_Shift_Del	DEL	CT	CT	-													ttcaaagttgccctggatccCtctctctctgtgcaggagta					rs144062030	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:2813625_2813626CCT>C	uc002crk.3	+	10	3645_3646	c.3096_3097CCT>C	c.(3094-3099)tccctcfs	p.S1032fs	SRRM2_uc002crj.1_Frame_Shift_Del_p.S936fs|SRRM2_uc002crl.1_Frame_Shift_Del_p.S1032fs|SRRM2_uc010bsu.1_Frame_Shift_Del_p.S936fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1032	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus 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						GCCCTGGATCCCTCTCTCTCTG	0.48													-	2813627	CT	-	2813626	7	5	193	1	0	1	0	1	0	0	0	0	15168	681	24	0	3135	0	SRRM2	16	2813626	Frame_Shift_Del	DEL	CT	TCGA-CG-5726-01A-11D-1600-08	530820	2813626	87541127	1267	106500											
THOC6	79228	broad.mit.edu	37	chr16	3077501	3077501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccgcgcctgagtgcaaGgtgggtccggcaggggccgc	18	14	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3077501G>A	uc002ctb.2	+	12	1241	c.945G>A	c.(943-945)AAG>AAA	p.K315K	THOC6_uc002ctd.2_Intron|THOC6_uc002ctc.2_Silent_p.K291K|THOC6_uc002cta.2_Silent_p.K291K	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	315	WD 7.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						CTGAGTGCAAGGTGGGTCCGG	0.701													A	3077501	G	A	3077501	2	1	193	1	0	0	0	0	0	0	0	1	15866	1014	35	4		4	THOC6	16	3077501	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	263875	3077501	87277252	1268	106501											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139421	3139421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggttggagctattgcGgaaacggtggccgcaggtgt	18	8	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3139421G>A	uc002ctv.1	-	5	1937	c.1849C>T	c.(1849-1851)CGC>TGC	p.R617C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R278C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R535C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R545C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	617	C2H2-type 11.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GAGCTATTGCGGAAACGGTGG	0.701													A	3139421	G	A	3139421	3	1	193	1	0	0	0	0	1	0	0	0	18224	1116	39	1	332	1	ZSCAN10	16	3139421	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	61920	3139421	87215332	1269	106502											
ZNF213	7760	broad.mit.edu	37	chr16	3188482	3188482	+	Frame_Shift_Del	DEL	C	C	-													gatcccaggccacggggcctCccccgacggtgggggcacgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3188482delC	uc010uws.1	+	3	910	c.463delC	c.(463-465)CCCfs	p.P155fs	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Frame_Shift_Del_p.P155fs|ZNF213_uc010uwt.1_Frame_Shift_Del_p.P155fs	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	155					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CACGGGGCCTCCCCCGACGGT	0.677													-	3188482	C	-	3188482	7	5	193	1	0	1	0	1	0	0	0	0	17766	855	30	0	469	0	ZNF213	16	3188482	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	49061	3188482	87166271	1270	106503											
CLUAP1	23059	broad.mit.edu	37	chr16	3562425	3562425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttgcgtctgaaatcAcctccaaaggagcatctctg	10	12	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3562425A>G	uc002cvk.1	+	5	547	c.442A>G	c.(442-444)ACC>GCC	p.T148A	CLUAP1_uc002cvj.1_Missense_Mutation_p.T148A|CLUAP1_uc002cvl.1_Missense_Mutation_p.T148A|CLUAP1_uc002cvm.1_Intron	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	148						nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GTCTGAAATCACCTCCAAAGG	0.413													G	3562425	A	G	3562425	3	3	193	1	0	0	0	0	1	0	0	0	3569	159	6	3	460	3	CLUAP1	16	3562425	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	373943	3562425	86792328	1271	106504											
TRAP1	10131	broad.mit.edu	37	chr16	3740865	3740865	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgataatcgagtgcagGggttcctccttgtcctcggc	12	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:3740865G>T	uc002cvt.3	-	2	299	c.210C>A	c.(208-210)CCC>CCA	p.P70P	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	70					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TCGAGTGCAGGGGTTCCTCCT	0.617											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3740865	G	T	3740865	2	4	193	1	0	0	0	0	0	0	0	1	16452	1219	43	5		5	TRAP1	16	3740865	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	178440	3740865	86613888	1272	106505											
SRL	6345	broad.mit.edu	37	chr16	4292031	4292031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtcctgagaacaggagcGaggccaggaggcagccgagc	16	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4292031G>A	uc002cvz.3	-	1	51	c.38C>T	c.(37-39)TCG>TTG	p.S13L	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	13						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5						GAACAGGAGCGAGGCCAGGAG	0.632													A	4292031	G	A	4292031	3	1	193	1	0	0	0	0	1	0	0	0	15149	1059	37	1	1407	1	SRL	16	4292031	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	551166	4292031	86062722	1273	106506											
UBN1	29855	broad.mit.edu	37	chr16	4924216	4924216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgttttcctttaggaatCgtctacgaagcctgataaaa	7	8	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4924216C>T	uc002cyb.2	+	15	2144	c.1805C>T	c.(1804-1806)TCG>TTG	p.S602L	UBN1_uc010uxw.1_Missense_Mutation_p.S602L|UBN1_uc002cyc.2_Missense_Mutation_p.S602L	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	602					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			skin(2)	2						CTTTAGGAATCGTCTACGAAG	0.443													T	4924216	C	T	4924216	3	4	193	1	0	0	0	0	1	0	0	0	16889	893	31	1	1859	1	UBN1	16	4924216	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	632185	4924216	85430537	1274	106507											
UBN1	29855	broad.mit.edu	37	chr16	4925259	4925259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggccaccagccgacccGtcccaagttcagcagggaaa	11	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4925259G>A	uc002cyb.2	+	15	3187	c.2848G>A	c.(2848-2850)GTC>ATC	p.V950I	UBN1_uc010uxw.1_Missense_Mutation_p.V950I|UBN1_uc002cyc.2_Missense_Mutation_p.V950I	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	950	Ser-rich.				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			skin(2)	2						CAGCCGACCCGTCCCAAGTTC	0.602													A	4925259	G	A	4925259	3	1	193	1	0	0	0	0	1	0	0	0	16889	1145	40	1	2902	1	UBN1	16	4925259	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1043	4925259	85429494	1275	106508											
PPL	5493	broad.mit.edu	37	chr16	4943363	4943363	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctgccgcccctgtaggtCagaggcatctgtggagggag	16	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:4943363C>T	uc002cyd.1	-	14	1591	c.1501G>A	c.(1501-1503)GAC>AAC	p.D501N		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	501					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CCCTGTAGGTCAGAGGCATCT	0.677													T	4943363	C	T	4943363	3	4	193	1	0	0	0	0	1	0	0	0	12334	826	29	4	3805	4	PPL	16	4943363	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	18104	4943363	85411390	1276	106509											
C16orf68	79091	broad.mit.edu	37	chr16	8722842	8722842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgagaagaccacgagCcgcctctgattccaacccag	11	14	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:8722842C>T	uc002cyz.2	+	3	665	c.389C>T	c.(388-390)GCC>GTC	p.A130V	C16orf68_uc002cza.2_Intron	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	130							methyltransferase activity				0						AGACCACGAGCCGCCTCTGAT	0.582													T	8722842	C	T	8722842	3	4	193	1	0	0	0	0	1	0	0	0	1827	739	26	2	395	2	C16orf68	16	8722842	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3779479	8722842	81631911	1277	106510											
NTAN1	123803	broad.mit.edu	37	chr16	15131931	15131932	+	Frame_Shift_Ins	INS	-	-	T													ttcccacaagccatcttcatINStttttttgtagagtagggct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:15131930_15131931A>AT	uc002ddd.3	-	9	895_896	c.890_891T>AT	c.(889-891)aatfs	p.N297fs	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Frame_Shift_Ins_p.N192fs	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	297						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						AGCCATCTTCATTTTTTTTGTA	0.386													T	15131932	-	T	15131931	7	5	193	1	0	1	1	0	0	0	0	0	10695	1493	52	0	46	0	NTAN1	16	15131931	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	6409089	15131931	75222822	1278	106511											
KIAA0430	9665	broad.mit.edu	37	chr16	15719582	15719582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacaattatcggacaggcGtctgagcctgttgctgacgc	11	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:15719582G>A	uc002ddr.2	-	8	1793	c.1600C>T	c.(1600-1602)CGC>TGC	p.R534C	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Missense_Mutation_p.R530C|KIAA0430_uc010uzw.1_Missense_Mutation_p.R532C	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	533						peroxisome	nucleotide binding|RNA binding				0						TCGGACAGGCGTCTGAGCCTG	0.488													A	15719582	G	A	15719582	3	1	193	1	0	0	0	0	1	0	0	0	8177	1145	40	1	3711	1	KIAA0430	16	15719582	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	587651	15719582	74635171	1279	106512											
ABCC6	368	broad.mit.edu	37	chr16	16291913	16291913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagaccacgatccagaCgagaggcagccacagcccgt	12	14	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:16291913C>T	uc002den.3	-	10	1340	c.1303G>A	c.(1303-1305)GTC>ATC	p.V435I	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.V447I	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	435	ABC transmembrane type-1 1.|Helical; Name=8; (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACGATCCAGACGAGAGGCAGC	0.507													T	16291913	C	T	16291913	3	4	193	1	0	0	0	0	1	0	0	0	57	536	19	1	3296	1	ABCC6	16	16291913	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	572331	16291913	74062840	1280	106513											
XYLT1	64131	broad.mit.edu	37	chr16	17202787	17202787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgggcggggttgatgGgcaggctgaggacggggttt	20	8	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:17202787G>A	uc002dfa.2	-	12	2730	c.2645C>T	c.(2644-2646)CCC>CTC	p.P882L		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	882	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GGGGTTGATGGGCAGGCTGAG	0.632													A	17202787	G	A	17202787	3	1	193	1	0	0	0	0	1	0	0	0	17460	1232	43	4	238	4	XYLT1	16	17202787	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	910874	17202787	73151966	1281	106514											
ARL6IP1	23204	broad.mit.edu	37	chr16	18806827	18806827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtgaagaggcgtttccAccaacccacagctctgcgtc	10	13	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:18806827A>G	uc002dfl.1	-	4	436	c.367T>C	c.(367-369)TGG>CGG	p.W123R	ARL6IP1_uc010van.1_Missense_Mutation_p.W94R|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	123						integral to membrane	protein binding				0						AGGCGTTTCCACCAACCCACA	0.378													G	18806827	A	G	18806827	3	3	193	1	0	0	0	0	1	0	0	0	942	159	6	3	256	3	ARL6IP1	16	18806827	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1604040	18806827	71547926	1282	106515											
TMC7	79905	broad.mit.edu	37	chr16	19033117	19033117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcctttcaaagacatGggtgagtgtaaggcctggtt	11	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:19033117G>T	uc002dfq.2	+	4	757	c.627G>T	c.(625-627)ATG>ATT	p.M209I	TMC7_uc010vao.1_Missense_Mutation_p.M209I|TMC7_uc002dfp.2_Missense_Mutation_p.M209I|TMC7_uc010vap.1_Missense_Mutation_p.M99I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	209	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						TCAAAGACATGGGTGAGTGTA	0.398													T	19033117	G	T	19033117	3	4	193	1	0	0	0	0	1	0	0	0	15987	1362	47	5	641	5	TMC7	16	19033117	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	226290	19033117	71321636	1283	106516											
DNAH3	55567	broad.mit.edu	37	chr16	21109957	21109957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaactctgcaaacgcccGatttaggttctttgaaagct	7	11	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:21109957G>A	uc010vbe.1	-	17	2500	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	834	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCAAACGCCCGATTTAGGTTC	0.418													A	21109957	G	A	21109957	3	1	193	1	0	0	0	0	1	0	0	0	4603	1057	37	1	10033	1	DNAH3	16	21109957	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2076840	21109957	69244796	1284	106517											
ANKS4B	257629	broad.mit.edu	37	chr16	21245076	21245076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtctactcgttaccaCcaagctgctagtgatagtta	7	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:21245076C>T	uc010bwp.1	+	1	61	c.18C>T	c.(16-18)CAC>CAT	p.H6H		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	6										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		CTCGTTACCACCAAGCTGCTA	0.488													T	21245076	C	T	21245076	2	4	193	1	0	0	0	0	0	0	0	1	691	506	18	4		4	ANKS4B	16	21245076	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	135119	21245076	69109677	1285	106518											
METTL9	51108	broad.mit.edu	37	chr16	21624076	21624076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaacagcattgagaaatcGggctggctatttatccaatt	8	8	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:21624076G>A	uc002dje.2	+	2	475	c.276G>A	c.(274-276)TCG>TCA	p.S92S	uc002diq.3_Intron|METTL9_uc002djf.2_Silent_p.S92S	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	92										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)		TTGAGAAATCGGGCTGGCTAT	0.373													A	21624076	G	A	21624076	2	1	193	1	0	0	0	0	0	0	0	1	9508	1103	39	1		1	METTL9	16	21624076	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	379000	21624076	68730677	1286	106519											
USP31	57478	broad.mit.edu	37	chr16	23119471	23119471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcatgttgggaatttcCccggtactgcagtgcattct	11	10	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:23119471C>T	uc002dll.2	-	2	667	c.667G>A	c.(667-669)GGA>AGA	p.G223R		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	223					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGGGAATTTCCCCGGTACTGC	0.448													T	23119471	C	T	23119471	3	4	193	1	0	0	0	0	1	0	0	0	17059	632	22	4	3451	4	USP31	16	23119471	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1495395	23119471	67235282	1287	106520											
RBBP6	5930	broad.mit.edu	37	chr16	24582802	24582802	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacttcactcccaatagagAcaaaaaaactgactatgaca	5	10	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:24582802A>T	uc002dmh.2	+	18	5455	c.4415A>T	c.(4414-4416)GAC>GTC	p.D1472V	RBBP6_uc002dmi.2_Missense_Mutation_p.D1438V|RBBP6_uc010bxr.2_Missense_Mutation_p.D632V|RBBP6_uc002dmk.2_Missense_Mutation_p.D1305V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1472	Interaction with p53 (By similarity).				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			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CCCAATAGAGACAAAAAAACT	0.363													T	24582802	A	T	24582802	3	4	193	1	0	0	0	0	1	0	0	0	13103	275	10	5	4539	5	RBBP6	16	24582802	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1463331	24582802	65771951	1288	106521											
TNRC6A	27327	broad.mit.edu	37	chr16	24817979	24817979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaagcagcagactccaCcatctcagcagcagccactc	9	15	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:24817979C>T	uc002dmm.2	+	17	4528	c.4414C>T	c.(4414-4416)CCA>TCA	p.P1472S	TNRC6A_uc010bxs.2_Missense_Mutation_p.P1219S|TNRC6A_uc002dmn.2_Missense_Mutation_p.P1170S|TNRC6A_uc002dmo.2_Missense_Mutation_p.P1111S|TNRC6A_uc002dmp.2_Missense_Mutation_p.P73S|TNRC6A_uc002dmq.2_Missense_Mutation_p.P139S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1472					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GCAGACTCCACCATCTCAGCA	0.483													T	24817979	C	T	24817979	3	4	193	1	0	0	0	0	1	0	0	0	16337	507	18	4	4480	4	TNRC6A	16	24817979	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	235177	24817979	65536774	1289	106522											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258441	25258441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagtgtttcataaaagCgagactctttgagaattgcc	9	8	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:25258441C>T	uc002dod.3	-	5	1483	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R155H|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R359H	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TTCATAAAAGCGAGACTCTTT	0.473													T	25258441	C	T	25258441	3	4	193	1	0	0	0	0	1	0	0	0	17684	768	27	1	1839	1	ZKSCAN2	16	25258441	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	440462	25258441	65096312	1290	106523											
CD19	930	broad.mit.edu	37	chr16	28943679	28943679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagagggagataacgCtgtgctgcagtgcctcaagg	13	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:28943679C>T	uc002drs.2	+	2	163	c.101C>T	c.(100-102)GCT>GTT	p.A34V	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.A34V	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	34	Extracellular (Potential).|Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						GGAGATAACGCTGTGCTGCAG	0.612													T	28943679	C	T	28943679	3	4	193	1	0	0	0	0	1	0	0	0	2973	797	28	2	107	2	CD19	16	28943679	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3685238	28943679	61411074	1291	106524											
MAZ	4150	broad.mit.edu	37	chr16	29820043	29820043	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccagggtcctcaccatgtCtgtgagctctgcaacaaagg	11	12	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:29820043C>T	uc002dty.2	+	4	1428	c.1260C>T	c.(1258-1260)GTC>GTT	p.V420V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Silent_p.V397V|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Silent_p.V420V|MAZ_uc010bzg.2_Silent_p.V115V|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_Silent_p.V21V|MAZ_uc010vdy.1_Silent_p.V21V|uc002duc.1_RNA	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	420					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			ovary(1)	1						CTCACCATGTCTGTGAGCTCT	0.602													T	29820043	C	T	29820043	2	4	193	1	0	0	0	0	0	0	0	1	9340	900	32	4		4	MAZ	16	29820043	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	876364	29820043	60534710	1292	106525											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888190	29888190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaggtgagcaccgtgcccCggatcaggtccccgtgggat	16	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:29888190C>T	uc002duq.3	-	12	2231	c.1991G>A	c.(1990-1992)CGG>CAG	p.R664Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.R594Q|SEZ6L2_uc002dur.3_Missense_Mutation_p.R594Q|SEZ6L2_uc002dus.3_Missense_Mutation_p.R550Q|SEZ6L2_uc010vec.1_Missense_Mutation_p.R664Q|SEZ6L2_uc010ved.1_Missense_Mutation_p.R620Q	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	664	Sushi 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CACCGTGCCCCGGATCAGGTC	0.687													T	29888190	C	T	29888190	3	4	193	1	0	0	0	0	1	0	0	0	14144	652	23	1	808	1	SEZ6L2	16	29888190	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	68147	29888190	60466563	1293	106526											
SRCAP	10847	broad.mit.edu	37	chr16	30749660	30749660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggaactggtgcggcggCggcggcagcagcggggagct	20	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30749660C>T	uc002dze.1	+	34	8684	c.8299C>T	c.(8299-8301)CGG>TGG	p.R2767W	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2562W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2767	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GGTGCGGCGGCGGCGGCAGCA	0.652													T	30749660	C	T	30749660	3	4	193	1	0	0	0	0	1	0	0	0	15134	759	27	1	8425	1	SRCAP	16	30749660	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	861470	30749660	59605093	1294	106527											
RNF40	9810	broad.mit.edu	37	chr16	30779458	30779458	+	Frame_Shift_Del	DEL	C	C	-													cagtggctctgcccactccaCccccaacctgggccacccag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30779458delC	uc002dzq.2	+	13	1709	c.1586delC	c.(1585-1587)ACCfs	p.T529fs	RNF40_uc010caa.2_Frame_Shift_Del_p.T529fs|RNF40_uc010cab.2_Frame_Shift_Del_p.T429fs|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Frame_Shift_Del_p.T529fs|RNF40_uc010vfb.1_Frame_Shift_Del_p.T221fs|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	529					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(1)	1			Colorectal(24;0.198)			GCCCACTCCACCCCCAACCTG	0.617													-	30779458	C	-	30779458	7	5	193	1	0	1	0	1	0	0	0	0	13493	507	18	0	1632	0	RNF40	16	30779458	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	29798	30779458	59575295	1295	106528											
BCL7C	9274	broad.mit.edu	37	chr16	30904250	30904250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggatctctctgccccgCcacctgcccgccttcgctcc	8	22	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30904250C>T	uc002dzv.2	-	3	325	c.191G>A	c.(190-192)GGC>GAC	p.G64D	BCL7C_uc002dzt.1_Missense_Mutation_p.G64D|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	64					apoptosis						0			Colorectal(24;0.198)			CTCTGCCCCGCCACCTGCCCG	0.617													T	30904250	C	T	30904250	3	4	193	1	0	0	0	0	1	0	0	0	1380	739	26	2	478	2	BCL7C	16	30904250	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	124792	30904250	59450503	1296	106529											
FBXL19	54620	broad.mit.edu	37	chr16	30941646	30941646	+	Frame_Shift_Del	DEL	G	G	-													ctggcgagaaggagaaccgtGgggggcggcgggctgtgcgc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30941646delG	uc002eab.2	+	7	1260	c.1102delG	c.(1102-1104)GGGfs	p.G368fs	FBXL19_uc002dzz.1_Frame_Shift_Del_p.G56fs|FBXL19_uc002eaa.1_Frame_Shift_Del_p.G267fs	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	368							DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						GGAGAACCGTGGGGGGCGGCG	0.746													-	30941646	G	-	30941646	7	5	193	1	0	1	0	1	0	0	0	0	5715	1348	47	0	1128	0	FBXL19	16	30941646	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	37396	30941646	59413107	1297	106530											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982810	+	In_Frame_Ins	INS	-	-	TCC													cagctcttccagctcctcatINScctcctcctcctcctcgtcc					rs141132338	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:30982808_30982809A>ATCC	uc002ead.1	+	12	3812_3813	c.3126_3127A>ATCC	c.(3124-3129)tcatcc>tcATCCcc	p.1042_1043SS>SS		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1042	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein 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						CCAGctcctcatcctcctcctc	0.545													TCC	30982810	-	TCC	30982809	7	5	193	1	0	1	1	0	0	0	0	0	14130	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	41163	30982809	59371944	1298	106531											
ZNF646	9726	broad.mit.edu	37	chr16	31089231	31089231	+	Frame_Shift_Del	DEL	C	C	-													agacatcggggctgagggtgCccccagccacctcaaggtag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:31089230_31089230GC>G	uc002eap.3	+	1	1874	c.1585_1585GC>G	c.(1585-1587)gccfs	p.A529fs	ZNF646_uc021tgu.1_Frame_Shift_Del_p.A529fs	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	529					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						GGCTGAGGGTGCCCCCAGCCA	0.617													-	31089231	C	-	31089231	7	5	193	1	0	1	0	1	0	0	0	0	18059	739	26	0	1588	0	ZNF646	16	31089231	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	106422	31089231	59265522	1299	106532											
PRSS36	146547	broad.mit.edu	37	chr16	31154711	31154711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctttcagacaccagcGccccatggcagggtctggat	11	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:31154711G>A	uc002ebd.2	-	8	1111	c.1052C>T	c.(1051-1053)GCG>GTG	p.A351V	PRSS36_uc010vff.1_Missense_Mutation_p.A126V|PRSS36_uc010vfg.1_Missense_Mutation_p.A351V|PRSS36_uc010vfh.1_Missense_Mutation_p.A351V	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	351	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						AGACACCAGCGCCCCATGGCA	0.642													A	31154711	G	A	31154711	3	1	193	1	0	0	0	0	1	0	0	0	12625	1087	38	1	1547	1	PRSS36	16	31154711	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	65480	31154711	59200042	1300	106533											
VPS35	55737	broad.mit.edu	37	chr16	46715400	46715400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaagtagtgcagttcatcaGaaatggccatatcttttaat	7	8	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:46715400G>A	uc002eef.3	-	4	311	c.212C>T	c.(211-213)TCT>TTT	p.S71F	VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.S32F	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	71					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		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)				CAGTTCATCAGAAATGGCCAT	0.363													A	46715400	G	A	46715400	3	1	193	1	0	0	0	0	1	0	0	0	17200	942	33	4	2234	4	VPS35	16	46715400	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	15560689	46715400	43639353	1301	106534											
BRD7	29117	broad.mit.edu	37	chr16	50357571	50357571	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactatctgccatgacaTacggataatcttggcacgtg	9	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:50357571T>A	uc002egf.1	-	13	1437	c.1370A>T	c.(1369-1371)TAT>TTT	p.Y457F	BRD7_uc002ege.1_Missense_Mutation_p.Y457F	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	457					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TGCCATGACATACGGATAATC	0.443													A	50357571	T	A	50357571	3	1	193	1	0	0	0	0	1	0	0	0	1505	1406	49	5	612	5	BRD7	16	50357571	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	3642171	50357571	39997182	1302	106535											
SALL1	6299	broad.mit.edu	37	chr16	51175249	51175249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgccaatccagctgctGctgccagctgctgagataaa	10	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:51175249G>A	uc010vgs.1	-	2	915	c.884C>T	c.(883-885)GCA>GTA	p.A295V	SALL1_uc010vgr.1_Missense_Mutation_p.A198V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	295	Poly-Ala.				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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCAGCTGCTGCTGCCAGCTG	0.527													A	51175249	G	A	51175249	3	1	193	1	0	0	0	0	1	0	0	0	13810	1319	46	2	3098	2	SALL1	16	51175249	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	817678	51175249	39179504	1303	106536											
IRX6	79190	broad.mit.edu	37	chr16	55363164	55363164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactaccgctgaactgtgCgccgtgcccgcggaggagcg	17	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:55363164C>T	uc002ehy.2	+	5	1807	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	IRX6_uc002ehx.2_Missense_Mutation_p.A425V	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTGAACTGTGCGCCGTGCCCG	0.617													T	55363164	C	T	55363164	3	4	193	1	0	0	0	0	1	0	0	0	7848	768	27	1	1292	1	IRX6	16	55363164	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4187915	55363164	34991589	1304	106537											
MMP2	4313	broad.mit.edu	37	chr16	55527106	55527106	+	Frame_Shift_Del	DEL	C	C	-													tgaccttggcaccggccccaCccccacgctgggccctgtca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:55527106delC	uc002ehz.3	+	9	1684	c.1373delC	c.(1372-1374)ACCfs	p.T458fs	MMP2_uc010vhd.1_Frame_Shift_Del_p.T382fs|MMP2_uc010ccc.2_Frame_Shift_Del_p.T408fs|MMP2_uc002eia.3_5'UTR	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	458	Required for inhibitor TIMP2 binding.|Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		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)	ACCGGCCCCACCCCCACGCTG	0.582													-	55527106	C	-	55527106	7	5	193	1	0	1	0	1	0	0	0	0	9658	507	18	0	1414	0	MMP2	16	55527106	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	163942	55527106	34827647	1305	106538											
SLC6A2	6530	broad.mit.edu	37	chr16	55690817	55690817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcctgctgtccgtagtcGgcttcgcagtggacctggcc	12	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:55690817G>A	uc002eif.2	+	2	322	c.211G>A	c.(211-213)GGC>AGC	p.G71S	SLC6A2_uc010ccd.2_Missense_Mutation_p.G71S|SLC6A2_uc002eig.2_Missense_Mutation_p.G71S|SLC6A2_uc002eih.2_Missense_Mutation_p.G71S	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	71	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				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)	GTCCGTAGTCGGCTTCGCAGT	0.672													A	55690817	G	A	55690817	3	1	193	1	0	0	0	0	1	0	0	0	14683	1116	39	1	213	1	SLC6A2	16	55690817	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	163711	55690817	34663936	1306	106539											
CDH8	1006	broad.mit.edu	37	chr16	61687979	61687979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcatttttatgccgccGtagagttacaaacagcacca	8	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:61687979G>A	uc002eog.1	-	12	2185	c.1933C>T	c.(1933-1935)CGG>TGG	p.R645W		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	645	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		TTATGCCGCCGTAGAGTTACA	0.383													A	61687979	G	A	61687979	3	1	193	1	0	0	0	0	1	0	0	0	3116	1144	40	1	470	1	CDH8	16	61687979	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5997162	61687979	28666774	1307	106540											
CDH5	1003	broad.mit.edu	37	chr16	66426078	66426078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcaatacagcttcatcGtcgaggccacagaccccacc	7	17	1	1	rs147523967		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:66426078G>A	uc002eom.3	+	7	1165	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	CDH5_uc002eon.1_Missense_Mutation_p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	337	Cadherin 3.|Extracellular (Potential).				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			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCTTCATCGTCGAGGCCAC	0.433													A	66426078	G	A	66426078	3	1	193	1	0	0	0	0	1	0	0	0	3113	1145	40	1	1031	1	CDH5	16	66426078	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4738099	66426078	23928675	1308	106541											
B3GNT9	84752	broad.mit.edu	37	chr16	67183811	67183811	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgaaggcccagagcAggatgtccgcatacgcaagg	14	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:67183811A>T	uc002erf.2	-	2	899	c.578T>A	c.(577-579)CTG>CAG	p.L193Q	uc002erg.1_Missense_Mutation_p.R72W	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	193	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						GGCCCAGAGCAGGATGTCCGC	0.642													T	67183811	A	T	67183811	3	4	193	1	0	0	0	0	1	0	0	0	1264	188	7	5	634	5	B3GNT9	16	67183811	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	757733	67183811	23170942	1309	106542											
PLEKHG4	25894	broad.mit.edu	37	chr16	67322195	67322195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtccctcaacctgcacCtgtacagagacccagctctt	9	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:67322195C>A	uc002eso.3	+	19	5881	c.3346C>A	c.(3346-3348)CTG>ATG	p.L1116M	PLEKHG4_uc002esp.3_Missense_Mutation_p.L923M|PLEKHG4_uc002esq.3_Missense_Mutation_p.L1116M|PLEKHG4_uc010cef.2_Missense_Mutation_p.L1116M|PLEKHG4_uc002ess.3_Missense_Mutation_p.L1116M|PLEKHG4_uc010ceg.2_Missense_Mutation_p.L1035M	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1116					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAACCTGCACCTGTACAGAGA	0.632													A	67322195	C	A	67322195	3	1	193	1	0	0	0	0	1	0	0	0	12071	680	24	5	3420	5	PLEKHG4	16	67322195	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	138384	67322195	23032558	1310	106543											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859956	67859956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcacttccacgccgcGgcctgactggaccaagtgca	11	17	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:67859956G>A	uc002euj.2	+	9	1353	c.959G>A	c.(958-960)CGG>CAG	p.R320Q	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.R197Q|TSNAXIP1_uc002euf.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R374Q|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R305Q|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R28Q|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R28Q	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	320					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TCCACGCCGCGGCCTGACTGG	0.607													A	67859956	G	A	67859956	3	1	193	1	0	0	0	0	1	0	0	0	16629	1116	39	1	985	1	TSNAXIP1	16	67859956	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	537761	67859956	22494797	1311	106544											
PLA2G15	23659	broad.mit.edu	37	chr16	68289275	68289275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctccctatgactggcgccGagccccaagtaagcaggcac	12	15	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:68289275G>A	uc002evr.2	+	4	577	c.494G>A	c.(493-495)CGA>CAA	p.R165Q	PLA2G15_uc010vld.1_Missense_Mutation_p.R165Q|PLA2G15_uc010vle.1_Missense_Mutation_p.E113K|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	165					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GACTGGCGCCGAGCCCCAAGT	0.612													A	68289275	G	A	68289275	3	1	193	1	0	0	0	0	1	0	0	0	11992	1058	37	1	508	1	PLA2G15	16	68289275	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	429319	68289275	22065478	1312	106545											
ZFP90	146198	broad.mit.edu	37	chr16	68597365	68597365	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctttattcatagatcatcGcttactaaacatgagaaaac	5	9	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:68597365G>T	uc010cff.2	+	5	967	c.675G>T	c.(673-675)TCG>TCT	p.S225S	ZFP90_uc002ewb.2_Missense_Mutation_p.R31L|ZFP90_uc002ewc.2_Missense_Mutation_p.R31L|ZFP90_uc002ewd.2_Silent_p.S225S|ZFP90_uc002ewe.2_Silent_p.S225S	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	225	C2H2-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		ATAGATCATCGCTTACTAAAC	0.348													T	68597365	G	T	68597365	2	4	193	1	0	0	0	0	0	0	0	1	17651	1074	38	5		5	ZFP90	16	68597365	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	308090	68597365	21757388	1313	106546											
CDH3	1001	broad.mit.edu	37	chr16	68732231	68732231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaccaagaccaagattaCgattatctgaacgagtgggg	11	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:68732231C>T	uc002ewf.2	+	16	3550	c.2418C>T	c.(2416-2418)TAC>TAT	p.Y806Y	CDH3_uc010vli.1_Silent_p.Y751Y	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	806	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ACCAAGATTACGATTATCTGA	0.632													T	68732231	C	T	68732231	2	4	193	1	0	0	0	0	0	0	0	1	3111	547	19	1		1	CDH3	16	68732231	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	134866	68732231	21622522	1314	106547											
TMED6	146456	broad.mit.edu	37	chr16	69377541	69377541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaccttttgtgtgccGtcctatgagagagacaattt	9	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:69377541G>A	uc002exc.1	-	4	525	c.492C>T	c.(490-492)GAC>GAT	p.D164D		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain	164	Lumenal (Potential).				transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						TTTGTGTGCCGTCCTATGAGA	0.428													A	69377541	G	A	69377541	2	1	193	1	0	0	0	0	0	0	0	1	16005	1136	40	1		1	TMED6	16	69377541	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	645310	69377541	20977212	1315	106548											
DDX19A	55308	broad.mit.edu	37	chr16	70400155	70400155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaagatcagagcatcCgcatccagaggtagggatct	11	12	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:70400155C>T	uc002eyv.2	+	8	843	c.772C>T	c.(772-774)CGC>TGC	p.R258C	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.R259C|DDX19A_uc010cfq.1_Missense_Mutation_p.R13C|DDX19A_uc010cfr.2_Missense_Mutation_p.R108C|DDX19A_uc010cfs.2_Missense_Mutation_p.R81C|DDX19A_uc010vlz.1_Missense_Mutation_p.R227C|DDX19A_uc010vma.1_Missense_Mutation_p.R168C	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	258	Helicase ATP-binding.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				TCAGAGCATCCGCATCCAGAG	0.537													T	70400155	C	T	70400155	3	4	193	1	0	0	0	0	1	0	0	0	4346	652	23	1	802	1	DDX19A	16	70400155	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1022614	70400155	19954598	1316	106549											
HYDIN	54768	broad.mit.edu	37	chr16	70917932	70917932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacactttcccatggcGtcagccacacagtcaacgtt	6	16	3	0	rs141625832	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:70917932G>A	uc002ezr.2	-	59	9995	c.9867C>T	c.(9865-9867)GAC>GAT	p.D3289D		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3290										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTCCCATGGCGTCAGCCACAC	0.567													A	70917932	G	A	70917932	2	1	193	1	0	0	0	0	0	0	0	1	7467	1136	40	1		1	HYDIN	16	70917932	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	517777	70917932	19436821	1317	106550											
HYDIN	54768	broad.mit.edu	37	chr16	71163613	71163613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcctcctctgattcGcaaaggttcgggacagaaca	10	13	1	2	rs150136432	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:71163613G>A	uc002ezr.2	-	9	1285	c.1157C>T	c.(1156-1158)GCG>GTG	p.A386V	HYDIN_uc010cfz.1_Missense_Mutation_p.A131V|HYDIN_uc002ezv.2_Missense_Mutation_p.A386V|HYDIN_uc010vmc.1_Missense_Mutation_p.A403V|HYDIN_uc010vmd.1_Missense_Mutation_p.A413V|HYDIN_uc002ezw.3_Missense_Mutation_p.A403V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	386										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCTCTGATTCGCAAAGGTTCG	0.448													A	71163613	G	A	71163613	3	1	193	1	0	0	0	0	1	0	0	0	7467	1087	38	1	14529	1	HYDIN	16	71163613	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	245681	71163613	19191140	1318	106551											
PHLPP2	23035	broad.mit.edu	37	chr16	71683907	71683907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaggtatgtacagcccAgcatccgggtacagcaggtt	14	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:71683907A>C	uc002fax.2	-	18	2864	c.2858T>G	c.(2857-2859)CTG>CGG	p.L953R	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.L886R	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	953	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TGTACAGCCCAGCATCCGGGT	0.483													C	71683907	A	C	71683907	3	2	193	1	0	0	0	0	1	0	0	0	11855	188	7	5	1117	5	PHLPP2	16	71683907	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	520294	71683907	18670846	1319	106552											
ZFHX3	463	broad.mit.edu	37	chr16	72993370	72993370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagctgtgcaggacgggGctgagccccgccagggctga	18	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:72993370G>A	uc002fck.2	-	2	1348	c.675C>T	c.(673-675)AGC>AGT	p.S225S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	225					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCAGGACGGGGCTGAGCCCCG	0.557													A	72993370	G	A	72993370	2	1	193	1	0	0	0	0	0	0	0	1	17631	1194	42	2		2	ZFHX3	16	72993370	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1309463	72993370	17361383	1320	106553											
CHST6	4166	broad.mit.edu	37	chr16	75513508	75513508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtggtccacacgtgccaCgcgggctccattaggtagaa	14	11	0	1	rs140123684		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:75513508C>T	uc002fef.2	-	3	399	c.219G>A	c.(217-219)GCG>GCA	p.A73A	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.A73A	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	73	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						ACACGTGCCACGCGGGCTCCA	0.657													T	75513508	C	T	75513508	2	4	193	1	0	0	0	0	0	0	0	1	3408	523	19	1		1	CHST6	16	75513508	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2520138	75513508	14841245	1321	106554											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401409	77401409	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actctgtctctcgactctgaGatgcatggggaatgtgactt	11	9	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:77401409G>T	uc002ffc.3	-	4	1126	c.707C>A	c.(706-708)TCT>TAT	p.S236Y	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	236					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TCGACTCTGAGATGCATGGGG	0.478													T	77401409	G	T	77401409	3	4	193	1	0	0	0	0	1	0	0	0	263	942	33	5	3038	5	ADAMTS18	16	77401409	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1887901	77401409	12953344	1322	106555											
PLCG2	5336	broad.mit.edu	37	chr16	81944273	81944273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcgctgcgccgagttcGagctgcggctcacggaccct	13	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:81944273G>A	uc002fgt.2	+	18	2034	c.1882G>A	c.(1882-1884)GAG>AAG	p.E628K	PLCG2_uc010chg.1_Missense_Mutation_p.E628K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	628	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CGCCGAGTTCGAGCTGCGGCT	0.627													A	81944273	G	A	81944273	3	1	193	1	0	0	0	0	1	0	0	0	12036	1059	37	1	1948	1	PLCG2	16	81944273	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4542864	81944273	8410480	1323	106556											
MBTPS1	8720	broad.mit.edu	37	chr16	84096957	84096957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattggagtccccatacagtAcaatccggcctccaccctca	6	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84096957A>G	uc002fhi.2	-	19	3027	c.2525T>C	c.(2524-2526)GTA>GCA	p.V842A	MBTPS1_uc002fhh.2_Missense_Mutation_p.V346A	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	842	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						CCCATACAGTACAATCCGGCC	0.478											OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	84096957	A	G	84096957	3	3	193	1	0	0	0	0	1	0	0	0	9361	391	14	3	653	3	MBTPS1	16	84096957	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2152684	84096957	6257796	1324	106557											
KCNG4	93107	broad.mit.edu	37	chr16	84256395	84256395	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggaccagccccaccttctCcaggtaggagctcccgctcg	10	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84256395C>A	uc010voc.1	-	3	1109	c.988G>T	c.(988-990)GAG>TAG	p.E330*		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	330						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CCCACCTTCTCCAGGTAGGAG	0.677													A	84256395	C	A	84256395	4	1	193	1	0	0	0	0	0	1	0	0	8030	864	30	5	573	5	KCNG4	16	84256395	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	159438	84256395	6098358	1325	106558											
KCNG4	93107	broad.mit.edu	37	chr16	84270892	84270893	+	Frame_Shift_Ins	INS	-	-	C													ggggaggagatacctcctgcINScccccacgttgatcaggatc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84270891_84270892G>GC	uc010voc.2	-	1	321_322	c.200_201C>GC	c.(199-201)ggcfs	p.G67fs	KCNG4_uc002fhu.1_Frame_Shift_Ins_p.G67fs	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	67						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						GATACCTCCTGCCCCCCACGTT	0.629													C	84270893	-	C	84270892	7	5	193	1	0	1	1	0	0	0	0	0	8030	739	26	0	1365	0	KCNG4	16	84270892	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	14497	84270892	6083861	1326	106559											
CRISPLD2	83716	broad.mit.edu	37	chr16	84940242	84940242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggatctttgctgtcagGcagtgaatttccagcaccag	10	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:84940242G>A	uc010voh.1	+	15	1715	c.1488G>A	c.(1486-1488)AGG>AGA	p.R496R	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.R495R	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	496						extracellular region|transport vesicle					0						TTGCTGTCAGGCAGTGAATTT	0.517													A	84940242	G	A	84940242	2	1	193	1	0	0	0	0	0	0	0	1	3883	1194	42	2		2	CRISPLD2	16	84940242	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	669350	84940242	5414511	1327	106560											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445308	87445308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgggtggcacggcaaAcgtggactgcccactcagga	14	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:87445308A>G	uc002fjz.1	-	12	2635	c.2608T>C	c.(2608-2610)TTT>CTT	p.F870L	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.F646L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	870					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGCACGGCAAACGTGGACTGC	0.632													G	87445308	A	G	87445308	3	3	193	1	0	0	0	0	1	0	0	0	17580	43	2	3	249	3	ZCCHC14	16	87445308	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2505066	87445308	2909445	1328	106561											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445883	87445883	+	Frame_Shift_Del	DEL	G	G	-													aggcaactttggtgttggctGtgtacagagcagtccggggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:87445883delG	uc002fjz.1	-	12	2060	c.2033delC	c.(2032-2034)ACAfs	p.T678fs	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Frame_Shift_Del_p.T454fs	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	678					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGTGTTGGCTGTGTACAGAGC	0.522													-	87445883	G	-	87445883	7	5	193	1	0	1	0	1	0	0	0	0	17580	1377	48	0	824	0	ZCCHC14	16	87445883	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	575	87445883	2908870	1329	106562											
ZNF778	197320	broad.mit.edu	37	chr16	89291990	89291990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaaaaccaaagggccagCacttcggcaggatagatctt	9	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:89291990C>T	uc002fmv.2	+	5	611	c.272C>T	c.(271-273)GCA>GTA	p.A91V	ZNF778_uc010vpf.1_RNA|ZNF778_uc002fmw.1_Missense_Mutation_p.A49V|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	91	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AAAGGGCCAGCACTTCGGCAG	0.363													T	89291990	C	T	89291990	3	4	193	1	0	0	0	0	1	0	0	0	18148	710	25	2	286	2	ZNF778	16	89291990	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1846107	89291990	1062763	1330	106563											
C16orf7	9605	broad.mit.edu	37	chr16	89778933	89778933	+	Splice_Site	DEL	G	G	-													ccgctgtagagagagggtctGgggggggaggagggagtaag					rs143123169	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:89778932_89778932TG>T	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAG	0.667													-	89778933	G	-	89778933	8	5	193	1	0	1	0	1	0	0	1	0	1828	1363	47	0		0	C16orf7	16	89778933	Splice_Site	DEL	G	TCGA-CG-5726-01A-11D-1600-08	486943	89778933	575820	1331	106564											
TUBB3	10381	broad.mit.edu	37	chr16	90002143	90002143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcagtaccaggacgcCacggccgaggaagagggcga	15	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr16:90002143C>T	uc002fph.1	+	4	1349	c.1284C>T	c.(1282-1284)GCC>GCT	p.A428A	TUBB3_uc002fpf.2_Silent_p.A775A|TUBB3_uc010ciz.1_Silent_p.A356A|TUBB3_uc002fpg.1_Silent_p.A282A|TUBB3_uc002fpi.1_Silent_p.A356A|TUBB3_uc002fpj.1_Silent_p.A356A|TUBB3_uc010cjb.1_Silent_p.A282A|TUBB3_uc002fpk.1_Silent_p.A282A	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	428					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		ACCAGGACGCCACGGCCGAGG	0.632													T	90002143	C	T	90002143	2	4	193	1	0	0	0	0	0	0	0	1	16754	581	21	4		4	TUBB3	16	90002143	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	223210	90002143	352610	1332	106565											
ABR	29	broad.mit.edu	37	chr17	970393	970393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtctgggaaggggtgcAcctgggggctggcctcagac	18	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:970393A>G	uc002fsd.2	-	10	1216	c.1106T>C	c.(1105-1107)GTG>GCG	p.V369A	ABR_uc002fse.2_Missense_Mutation_p.V323A|ABR_uc010vqg.1_Missense_Mutation_p.V151A|ABR_uc002fsg.2_Missense_Mutation_p.V332A|ABR_uc002fsh.1_Missense_Mutation_p.V253A	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	369	PH.				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			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAAGGGGTGCACCTGGGGGCT	0.567													G	970393	A	G	970393	3	3	193	1	0	0	0	0	1	0	0	0	99	159	6	3	1529	3	ABR	17	970393	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08		970393	80224817	1333	106566											
PITPNA	5306	broad.mit.edu	37	chr17	1456410	1456410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgtttcatttttactggCctcagccacagaatacagct	6	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:1456410C>T	uc002fst.3	-	3	341	c.85G>A	c.(85-87)GCC>ACC	p.A29T	PITPNA_uc010cjt.2_5'UTR|PITPNA_uc010cju.2_5'UTR|PITPNA_uc010vqn.1_RNA	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	29					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTTTTACTGGCCTCAGCCACA	0.507													T	1456410	C	T	1456410	3	4	193	1	0	0	0	0	1	0	0	0	11947	739	26	2	763	2	PITPNA	17	1456410	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	486017	1456410	79738800	1334	106567											
KIAA0664	23277	broad.mit.edu	37	chr17	2595920	2595920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccagcagcatgaggtagCgggcgcggtacagcaggctc	15	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:2595920C>T	uc002fuy.1	-	21	3352	c.3266G>A	c.(3265-3267)CGC>CAC	p.R1089H	KIAA0664_uc002fux.1_Missense_Mutation_p.R1022H|KIAA0664_uc010ckc.1_Missense_Mutation_p.R75H	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1089							binding			breast(2)	2						CATGAGGTAGCGGGCGCGGTA	0.701													T	2595920	C	T	2595920	3	4	193	1	0	0	0	0	1	0	0	0	8189	768	27	1	687	1	KIAA0664	17	2595920	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1139510	2595920	78599290	1335	106568											
OR1A1	8383	broad.mit.edu	37	chr17	3119822	3119822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccctgcggaaactctTcaacaagagaatctcctcgt	9	13	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:3119822T>C	uc010vrc.1	+	1	908	c.908T>C	c.(907-909)TTC>TCC	p.F303S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CGGAAACTCTTCAACAAGAGA	0.413													C	3119822	T	C	3119822	3	2	193	1	0	0	0	0	1	0	0	0	10949	1783	62	3	910	3	OR1A1	17	3119822	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	523902	3119822	78075388	1336	106569											
ATP2A3	489	broad.mit.edu	37	chr17	3846007	3846007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggtgaactccttccGcatcagctgcttgatgacct	9	14	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:3846007G>A	uc002fxb.1	-	12	1589	c.1438C>T	c.(1438-1440)CGG>TGG	p.R480W	ATP2A3_uc002fwx.1_Missense_Mutation_p.R480W|ATP2A3_uc002fwy.1_Missense_Mutation_p.R480W|ATP2A3_uc002fwz.1_Missense_Mutation_p.R480W|ATP2A3_uc002fxa.1_Missense_Mutation_p.R480W|ATP2A3_uc002fxc.1_Missense_Mutation_p.R480W|ATP2A3_uc002fxd.1_Missense_Mutation_p.R480W	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	480	Cytoplasmic (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AACTCCTTCCGCATCAGCTGC	0.617													A	3846007	G	A	3846007	3	1	193	1	0	0	0	0	1	0	0	0	1138	1086	38	1	1812	1	ATP2A3	17	3846007	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	726185	3846007	77349203	1337	106570											
ANKFY1	51479	broad.mit.edu	37	chr17	4086805	4086805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacatggtgtcattgatggCggctccagagcccagcagct	13	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4086805C>T	uc002fxq.1	-	14	1878	c.1840G>A	c.(1840-1842)GCC>ACC	p.A614T	ANKFY1_uc002fxn.2_Missense_Mutation_p.A656T|ANKFY1_uc002fxo.2_Missense_Mutation_p.A614T|ANKFY1_uc002fxp.2_Missense_Mutation_p.A613T|ANKFY1_uc010ckp.2_Missense_Mutation_p.A555T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	614	ANK 8.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCATTGATGGCGGCTCCAGAG	0.597													T	4086805	C	T	4086805	3	4	193	1	0	0	0	0	1	0	0	0	626	768	27	1	1720	1	ANKFY1	17	4086805	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	240798	4086805	77108405	1338	106571											
MYBBP1A	10514	broad.mit.edu	37	chr17	4451551	4451551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaggtccagggctgcccAccctgggtctggcccggtgc	16	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4451551A>G	uc002fyb.3	-	12	1673	c.1611T>C	c.(1609-1611)GGT>GGC	p.G537G	MYBBP1A_uc002fxz.3_Silent_p.G537G	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	537	Interaction with MYB (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			ovary(1)|skin(1)	2						AGGGCTGCCCACCCTGGGTCT	0.622													G	4451551	A	G	4451551	2	3	193	1	0	0	0	0	0	0	0	1	10008	146	6	3		3	MYBBP1A	17	4451551	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	364746	4451551	76743659	1339	106572											
PLD2	5338	broad.mit.edu	37	chr17	4722789	4722789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagctggccgtgctgatcGaggacacagagacggaacca	15	10	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4722789G>A	uc002fzc.2	+	23	2475	c.2374G>A	c.(2374-2376)GAG>AAG	p.E792K	PLD2_uc002fzd.2_Missense_Mutation_p.E792K	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	792					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CGTGCTGATCGAGGACACAGA	0.607													A	4722789	G	A	4722789	3	1	193	1	0	0	0	0	1	0	0	0	12046	1059	37	1	2460	1	PLD2	17	4722789	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	271238	4722789	76472421	1340	106573											
ENO3	2027	broad.mit.edu	37	chr17	4856581	4856581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaaactaagcgttgtGgatcaagaaaaagttgacaa	9	6	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4856581G>A	uc002gab.3	+	5	349	c.255G>A	c.(253-255)GCG>GCA	p.A85A	ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Silent_p.A85A|ENO3_uc010vss.1_Intron|ENO3_uc010vst.1_5'Flank	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	85					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TAAGCGTTGTGGATCAAGAAA	0.478													A	4856581	G	A	4856581	2	1	193	1	0	0	0	0	0	0	0	1	5123	1335	47	4		4	ENO3	17	4856581	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	133792	4856581	76338629	1341	106574											
CAMTA2	23125	broad.mit.edu	37	chr17	4876881	4876881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctgcccttgctcaccGccactggctcagggtctcga	10	18	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4876881G>A	uc002gah.1	-	13	2308	c.2200C>T	c.(2200-2202)CGG>TGG	p.R734W	CAMTA2_uc010cku.1_Missense_Mutation_p.R757W|CAMTA2_uc002gag.1_Missense_Mutation_p.R733W|CAMTA2_uc002gai.1_Missense_Mutation_p.R736W|CAMTA2_uc010ckv.1_Missense_Mutation_p.R381W	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	734	ANK 1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						CTTGCTCACCGCCACTGGCTC	0.647													A	4876881	G	A	4876881	3	1	193	1	0	0	0	0	1	0	0	0	2614	1101	38	1	1502	1	CAMTA2	17	4876881	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	20300	4876881	76318329	1342	106575											
KIF1C	10749	broad.mit.edu	37	chr17	4906103	4906103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgtcttcacacagcgctGccatgaccagctcacggggc	10	16	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:4906103G>T	uc002gan.1	+	8	1012	c.686G>T	c.(685-687)TGC>TTC	p.C229F		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	229	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						ACACAGCGCTGCCATGACCAG	0.607													T	4906103	G	T	4906103	3	4	193	1	0	0	0	0	1	0	0	0	8285	1319	46	5	708	5	KIF1C	17	4906103	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	29222	4906103	76289107	1343	106576											
PITPNM3	83394	broad.mit.edu	37	chr17	6374548	6374548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtgggagctcccctcGctcatcctccgtcctgggcg	12	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:6374548G>A	uc002gdd.3	-	12	1708	c.1557C>T	c.(1555-1557)AGC>AGT	p.S519S	PITPNM3_uc010cln.2_Silent_p.S483S|PITPNM3_uc010clm.2_Silent_p.S2S|PITPNM3_uc002gdc.3_Silent_p.S110S	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	519	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGCTCCCCTCGCTCATCCTCC	0.687													A	6374548	G	A	6374548	2	1	193	1	0	0	0	0	0	0	0	1	11952	1078	38	1		1	PITPNM3	17	6374548	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1468445	6374548	74820662	1344	106577											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:7577022G>A	uc002gim.2	-	8	1110	c.916C>T	c.(916-918)CGA>TGA	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	306	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577022	G	A	7577022	4	1	193	1	0	0	0	0	0	1	0	0	16378	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1202474	7577022	73618188	1345	106578											
DNAH2	146754	broad.mit.edu	37	chr17	7671512	7671512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaaattattgaaaccactCgctcaaaaatagagcagttc	8	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:7671512C>T	uc002giu.1	+	23	3882	c.3868C>T	c.(3868-3870)CGC>TGC	p.R1290C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1290	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAAACCACTCGCTCAAAAAT	0.552													T	7671512	C	T	7671512	3	4	193	1	0	0	0	0	1	0	0	0	4602	884	31	1	3958	1	DNAH2	17	7671512	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	94490	7671512	73523698	1346	106579											
PER1	5187	broad.mit.edu	37	chr17	8052938	8052938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgctccgaaatgtagAcgattcggcccgtcaggaag	12	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:8052938A>G	uc002gkd.2	-	6	933	c.695T>C	c.(694-696)GTC>GCC	p.V232A	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.V216A|PER1_uc010vus.1_Missense_Mutation_p.V232A	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	232	PAS 1.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						CGAAATGTAGACGATTCGGCC	0.612			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					G	8052938	A	G	8052938	3	3	193	1	0	0	0	0	1	0	0	0	11729	275	10	3	3249	3	PER1	17	8052938	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	381426	8052938	73142272	1347	106580											
MYH13	8735	broad.mit.edu	37	chr17	10214487	10214487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagcttcttggtcttttccGcttcctgaagattcttgcca	7	12	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10214487G>A	uc002gmk.1	-	33	4679	c.4589C>T	c.(4588-4590)GCG>GTG	p.A1530V		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1530	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGTCTTTTCCGCTTCCTGAAG	0.448													A	10214487	G	A	10214487	3	1	193	1	0	0	0	0	1	0	0	0	10032	1087	38	1	1263	1	MYH13	17	10214487	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2161549	10214487	70980723	1348	106581											
MYH8	4626	broad.mit.edu	37	chr17	10309612	10309612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtatgtccaaatttataTtgagtatgatcaatatcaat	6	4	2	2	rs145901155	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10309612T>C	uc002gmm.2	-	20	2369	c.2274A>G	c.(2272-2274)CAA>CAG	p.Q758Q	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	758	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			skin(6)|ovary(3)|breast(2)	11						CAAATTTATATTGAGTATGAT	0.373									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				C	10309612	T	C	10309612	2	2	193	1	0	0	0	0	0	0	0	1	10041	1490	52	3		3	MYH8	17	10309612	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	95125	10309612	70885598	1349	106582											
MYH2	4620	broad.mit.edu	37	chr17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcctcctggctccGgagagcatcatccaggtgga	12	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10427956G>A	uc010coi.2	-	35	5130	c.5002C>T	c.(5002-5004)CGG>TGG	p.R1668W	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1668W|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1668	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCCTGGCTCCGGAGAGCATCA	0.572													A	10427956	G	A	10427956	3	1	193	1	0	0	0	0	1	0	0	0	10035	1115	39	1	847	1	MYH2	17	10427956	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	118344	10427956	70767254	1350	106583											
MYH3	4621	broad.mit.edu	37	chr17	10535238	10535238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcagctcctccacctcGgcctgcagcaggttggctct	11	18	1	0	rs149260479		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10535238G>A	uc002gmq.1	-	34	5129	c.5052C>T	c.(5050-5052)GCC>GCT	p.A1684A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1684	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTCCACCTCGGCCTGCAGCA	0.657													A	10535238	G	A	10535238	2	1	193	1	0	0	0	0	0	0	0	1	10036	1103	39	1		1	MYH3	17	10535238	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	107282	10535238	70659972	1351	106584											
SCO1	6341	broad.mit.edu	37	chr17	10600694	10600694	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctccgcttgccgcgcgcagAactgcctcagcaagactctc	9	18	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:10600694A>T	uc002gmr.3	-	1	192	c.131T>A	c.(130-132)TTC>TAC	p.F44Y	SCO1_uc002gms.3_Missense_Mutation_p.F44Y|C17orf48_uc002gmt.2_5'Flank|C17orf48_uc002gmu.2_5'Flank|C17orf48_uc002gmv.2_5'Flank	NM_004589	NP_004580	O75880	SCO1_HUMAN	cytochrome oxidase deficient homolog 1	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				0						CCGCGCGCAGAACTGCCTCAG	0.697													T	10600694	A	T	10600694	3	4	193	1	0	0	0	0	1	0	0	0	13931	246	9	5	798	5	SCO1	17	10600694	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	65456	10600694	70594516	1352	106585											
DNAH9	1770	broad.mit.edu	37	chr17	11775064	11775064	+	Frame_Shift_Del	DEL	C	C	-													aagaaataccggcagagcctCctggacagaacttggaggcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:11775063_11775063TC>T	uc002gne.3	+	51	10270	c.10202_10202TC>T	c.(10201-10203)ctcfs	p.L3401fs	DNAH9_uc010coo.3_Frame_Shift_Del_p.L2695fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3401					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)		CGGCAGAGCCTCCTGGACAGA	0.483													-	11775064	C	-	11775064	7	5	193	1	0	1	0	1	0	0	0	0	4608	842	30	0	10409	0	DNAH9	17	11775064	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1174370	11775064	69420146	1353	106586											
CDRT4	284040	broad.mit.edu	37	chr17	15341260	15341260	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccccacattgataacgtggAttctgacagcgtgtccctga	10	12	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:15341260A>T	uc002gop.1	-	4	567	c.286T>A	c.(286-288)TCC>ACC	p.S96T	CDRT4_uc010vvw.1_3'UTR	NM_173622	NP_775893	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	96											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GATAACGTGGATTCTGACAGC	0.507													T	15341260	A	T	15341260	3	4	193	1	0	0	0	0	1	0	0	0	3176	333	12	5	173	5	CDRT4	17	15341260	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3566196	15341260	65853950	1354	106587											
PIGL	9487	broad.mit.edu	37	chr17	16221154	16221154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctcccttctggatctgCccttgtctctgcttcatacg	6	15	5	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:16221154C>T	uc002gpv.2	+	6	624	c.592C>T	c.(592-594)CCC>TCC	p.P198S		NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	198	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTGGATCTGCCCTTGTCTCT	0.527													T	16221154	C	T	16221154	3	4	193	1	0	0	0	0	1	0	0	0	11891	739	26	2	614	2	PIGL	17	16221154	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	879894	16221154	64974056	1355	106588											
MPRIP	23164	broad.mit.edu	37	chr17	17062044	17062044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacggaggcgggaggagCgccgcaagcgcttcgggatg	20	10	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:17062044C>T	uc002gqu.1	+	14	1830	c.1774C>T	c.(1774-1776)CGC>TGC	p.R592C	MPRIP_uc002gqv.1_Missense_Mutation_p.R592C|MPRIP_uc002gqw.1_Missense_Mutation_p.R347C	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	592	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GCGGGAGGAGCGCCGCAAGCG	0.736													T	17062044	C	T	17062044	3	4	193	1	0	0	0	0	1	0	0	0	9743	768	27	1	1828	1	MPRIP	17	17062044	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	840890	17062044	64133166	1356	106589											
TOM1L2	146691	broad.mit.edu	37	chr17	17772673	17772673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcgtatcgaaggaagaCgttgttgaggtcatcgttca	11	9	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:17772673C>T	uc002grz.3	-	8	1049	c.892G>A	c.(892-894)GTC>ATC	p.V298I	TOM1L2_uc002gry.3_Missense_Mutation_p.V248I|TOM1L2_uc010vwy.1_Missense_Mutation_p.V245I|TOM1L2_uc010cpr.2_Missense_Mutation_p.V253I|TOM1L2_uc010vwz.1_Missense_Mutation_p.V150I|TOM1L2_uc010vxa.1_Missense_Mutation_p.V200I|TOM1L2_uc010vxb.1_Missense_Mutation_p.V248I|TOM1L2_uc002grv.3_Missense_Mutation_p.V31I	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	298	GAT.				intracellular protein transport	intracellular					0	all_neural(463;0.228)					CGAAGGAAGACGTTGTTGAGG	0.488													T	17772673	C	T	17772673	3	4	193	1	0	0	0	0	1	0	0	0	16350	536	19	1	663	1	TOM1L2	17	17772673	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	710629	17772673	63422537	1357	106590											
LRRC48	83450	broad.mit.edu	37	chr17	17900948	17900948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaggagaagcacttgtcGgtaggccccgagcctcctga	13	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:17900948G>A	uc010vxd.1	+	10	1378	c.999G>A	c.(997-999)TCG>TCA	p.S333S	LRRC48_uc002gsa.2_Silent_p.S333S|LRRC48_uc010vxc.1_Silent_p.S333S|LRRC48_uc002gsb.2_Silent_p.S333S|LRRC48_uc010vxe.1_RNA	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	333						cytoplasm				pancreas(1)	1	all_neural(463;0.228)					AGCACTTGTCGGTAGGCCCCG	0.587													A	17900948	G	A	17900948	2	1	193	1	0	0	0	0	0	0	0	1	9005	1130	39	1		1	LRRC48	17	17900948	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	128275	17900948	63294262	1358	106591											
MYO15A	51168	broad.mit.edu	37	chr17	18023744	18023744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccagcgcaacctccagCgcgcgctgtcggccttcggc	13	19	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:18023744C>T	uc010vxh.1	+	2	1968	c.1630C>T	c.(1630-1632)CGC>TGC	p.R544C		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	544	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAACCTCCAGCGCGCGCTGTC	0.716													T	18023744	C	T	18023744	3	4	193	1	0	0	0	0	1	0	0	0	10063	768	27	1	1632	1	MYO15A	17	18023744	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	122796	18023744	63171466	1359	106592											
AKAP10	11216	broad.mit.edu	37	chr17	19827816	19827816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtattttaatactggcTtttttcacactggactacaa	5	8	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:19827816T>C	uc002gwo.2	-	11	1793	c.1656A>G	c.(1654-1656)AAA>AAG	p.K552K	AKAP10_uc002gwp.1_Silent_p.K552K|AKAP10_uc010cqw.1_Silent_p.K494K	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	552					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAATACTGGCTTTTTTCACAC	0.348													C	19827816	T	C	19827816	2	2	193	1	0	0	0	0	0	0	0	1	446	1606	56	3		3	AKAP10	17	19827816	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1804072	19827816	61367394	1360	106593											
SLC13A2	9058	broad.mit.edu	37	chr17	26817568	26817568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgcataaacgcatcGccctccgtgtcctcctcatc	7	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:26817568G>A	uc002hbh.2	+	3	395	c.328G>A	c.(328-330)GCC>ACC	p.A110T	SLC13A2_uc010wal.1_Missense_Mutation_p.A67T|SLC13A2_uc010wam.1_Missense_Mutation_p.A66T|SLC13A2_uc010wan.1_Missense_Mutation_p.A159T|SLC13A2_uc010wao.1_Missense_Mutation_p.A67T|SLC13A2_uc002hbi.2_Missense_Mutation_p.A39T	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	110						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TAAACGCATCGCCCTCCGTGT	0.607													A	26817568	G	A	26817568	3	1	193	1	0	0	0	0	1	0	0	0	14392	1087	38	1	485	1	SLC13A2	17	26817568	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6989752	26817568	54377642	1361	106594											
KIAA0100	9703	broad.mit.edu	37	chr17	26942696	26942696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatacctgggcaaccagggCtttgcggctgtcccttttga	13	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:26942696C>T	uc002hbu.2	-	38	6610	c.6511G>A	c.(6511-6513)GCC>ACC	p.A2171T	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.A500T	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2171						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCAACCAGGGCTTTGCGGCTG	0.547													T	26942696	C	T	26942696	3	4	193	1	0	0	0	0	1	0	0	0	8154	797	28	2	204	2	KIAA0100	17	26942696	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	125128	26942696	54252514	1362	106595											
ATAD5	79915	broad.mit.edu	37	chr17	29185289	29185289	+	Frame_Shift_Del	DEL	A	A	-													aaatattttcccttactcctAaaaaaacaaattgagcacca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:29185288_29185288TA>T	uc002hfs.1	+	8	3246	c.2903_2903TA>T	c.(2902-2904)ctafs	p.L968fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.L865fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	968					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)				CCCTTACTCCTAAAAAAACAA	0.308													-	29185289	A	-	29185289	7	5	193	1	0	1	0	1	0	0	0	0	1076	349	13	0	2938	0	ATAD5	17	29185289	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2242593	29185289	52009921	1363	106596											
RHBDL3	162494	broad.mit.edu	37	chr17	30648240	30648240	+	Frame_Shift_Del	DEL	C	C	-													tggacttaaagctgccgcctCccccctgagggctggaggcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:30648240delC	uc002hhe.1	+	9	1221	c.1207delC	c.(1207-1209)CCCfs	p.P403fs	RHBDL3_uc010csw.1_Frame_Shift_Del_p.P395fs|RHBDL3_uc010csx.1_Frame_Shift_Del_p.S369fs|RHBDL3_uc010csy.1_Frame_Shift_Del_p.P305fs|RHBDL3_uc002hhf.1_Frame_Shift_Del_p.P305fs	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	403					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				GCTGCCGCCTCCCCCCTGAGG	0.592													-	30648240	C	-	30648240	7	5	193	1	0	1	0	1	0	0	0	0	13323	855	30	0	1241	0	RHBDL3	17	30648240	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1462951	30648240	50546970	1364	106597											
CDK5R1	8851	broad.mit.edu	37	chr17	30814938	30814938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgtccacattcgcccaGcccccaccggcccagccgcc	7	23	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:30814938G>A	uc002hhn.2	+	2	521	c.300G>A	c.(298-300)CAG>CAA	p.Q100Q	CDK5R1_uc010wca.1_Silent_p.Q100Q|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	100					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			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CATTCGCCCAGCCCCCACCGG	0.642													A	30814938	G	A	30814938	2	1	193	1	0	0	0	0	0	0	0	1	3143	962	34	2		2	CDK5R1	17	30814938	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	166698	30814938	50380272	1365	106598											
CCL11	6356	broad.mit.edu	37	chr17	32614701	32614701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaaaatctccaactccaAagccataaataatcaccatt	1	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:32614701A>G	uc002hia.1	+	3	427	c.286A>G	c.(286-288)AAG>GAG	p.K96E		NM_002986	NP_002977	P51671	CCL11_HUMAN	small inducible cytokine A11 precursor	96					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity				0	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCAACTCCAAAGCCATAAAT	0.428													G	32614701	A	G	32614701	3	3	193	1	0	0	0	0	1	0	0	0	2883	15	1	3	296	3	CCL11	17	32614701	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1799763	32614701	48580509	1366	106599											
SLFN11	91607	broad.mit.edu	37	chr17	33690471	33690471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcggggcttgacagagCgatcttcagggaaagggcca	16	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:33690471C>T	uc010ctp.2	-	4	798	c.356G>A	c.(355-357)CGC>CAC	p.R119H	SLFN11_uc010ctq.2_Missense_Mutation_p.R119H|SLFN11_uc002hjh.3_Missense_Mutation_p.R119H|SLFN11_uc002hjg.3_Missense_Mutation_p.R119H|SLFN11_uc010ctr.2_Missense_Mutation_p.R119H	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	119						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGACAGAGCGATCTTCAGG	0.473													T	33690471	C	T	33690471	3	4	193	1	0	0	0	0	1	0	0	0	14733	768	27	1	2365	1	SLFN11	17	33690471	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1075770	33690471	47504739	1367	106600											
MYO19	80179	broad.mit.edu	37	chr17	34856778	34856778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccagcacccgggcacGcccacattccagaagctcca	8	19	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:34856778G>A	uc010wcy.1	-	24	3261	c.2269C>T	c.(2269-2271)CGT>TGT	p.R757C	MYO19_uc002hmw.2_Missense_Mutation_p.R557C|MYO19_uc010cuu.2_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	757						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCCGGGCACGCCCACATTCC	0.662													A	34856778	G	A	34856778	3	1	193	1	0	0	0	0	1	0	0	0	10067	1087	38	1	659	1	MYO19	17	34856778	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1166307	34856778	46338432	1368	106601											
GGNBP2	79893	broad.mit.edu	37	chr17	34943636	34943636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaacgttgtttggtccCgattccggaaaaggtgccaa	11	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:34943636C>T	uc002hnb.2	+	13	2100	c.1851C>T	c.(1849-1851)CCC>CCT	p.P617P		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	617					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGTTTGGTCCCGATTCCGGAA	0.478													T	34943636	C	T	34943636	2	4	193	1	0	0	0	0	0	0	0	1	6359	639	23	1		1	GGNBP2	17	34943636	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	86858	34943636	46251574	1369	106602											
ACACA	31	broad.mit.edu	37	chr17	35445936	35445936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcctctattaccgagTgaacaccatcctcctctgtc	5	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:35445936T>C	uc002hnm.2	-	55	7045	c.6854A>G	c.(6853-6855)CAC>CGC	p.H2285R	ACACA_uc002hnk.2_Missense_Mutation_p.H2207R|ACACA_uc002hnl.2_Missense_Mutation_p.H2227R|ACACA_uc002hnn.2_Missense_Mutation_p.H2285R|ACACA_uc002hno.2_Missense_Mutation_p.H2322R|ACACA_uc010cuy.2_Missense_Mutation_p.H930R|ACACA_uc010wdb.1_Missense_Mutation_p.H323R|ACACA_uc010wdc.1_Missense_Mutation_p.H411R	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2285					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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TATTACCGAGTGAACACCATC	0.483													C	35445936	T	C	35445936	3	2	193	1	0	0	0	0	1	0	0	0	106	1696	59	3	194	3	ACACA	17	35445936	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	502300	35445936	45749274	1370	106603											
ACACA	31	broad.mit.edu	37	chr17	35583264	35583264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaaatgtccttacctggCgtgctcgaagtgctactttg	9	11	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:35583264C>T	uc002hnm.2	-	26	3436	c.3245G>A	c.(3244-3246)CGC>CAC	p.R1082H	ACACA_uc002hnk.2_Missense_Mutation_p.R1004H|ACACA_uc002hnl.2_Missense_Mutation_p.R1024H|ACACA_uc002hnn.2_Missense_Mutation_p.R1082H|ACACA_uc002hno.2_Missense_Mutation_p.R1119H|ACACA_uc010cuz.2_Missense_Mutation_p.R1082H	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1082					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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTTACCTGGCGTGCTCGAAG	0.448													T	35583264	C	T	35583264	3	4	193	1	0	0	0	0	1	0	0	0	106	768	27	1	3919	1	ACACA	17	35583264	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	137328	35583264	45611946	1371	106604											
ACACA	31	broad.mit.edu	37	chr17	35591892	35591892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaatggtactcacaaTaagcattgtgaccagaagat	8	7	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:35591892T>C	uc002hnm.2	-	25	3324	c.3133A>G	c.(3133-3135)ATT>GTT	p.I1045V	ACACA_uc002hnk.2_Missense_Mutation_p.I967V|ACACA_uc002hnl.2_Missense_Mutation_p.I987V|ACACA_uc002hnn.2_Missense_Mutation_p.I1045V|ACACA_uc002hno.2_Missense_Mutation_p.I1082V|ACACA_uc010cuz.2_Missense_Mutation_p.I1045V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1045					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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTACTCACAATAAGCATTGTG	0.388													C	35591892	T	C	35591892	3	2	193	1	0	0	0	0	1	0	0	0	106	1406	49	3	4035	3	ACACA	17	35591892	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	8628	35591892	45603318	1372	106605											
GPR179	440435	broad.mit.edu	37	chr17	36482648	36482648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtttttcaggagctgtGgggaaaaattctctccgagt	13	6	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:36482648G>A	uc002hpz.2	-	11	6825	c.6804C>T	c.(6802-6804)CCC>CCT	p.P2268P		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2268	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGAGCTGTGGGGAAAAATT	0.522													A	36482648	G	A	36482648	2	1	193	1	0	0	0	0	0	0	0	1	6674	1335	47	4		4	GPR179	17	36482648	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	890756	36482648	44712562	1373	106606											
PSMB3	5691	broad.mit.edu	37	chr17	36912143	36912143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctacctcagtgcccagCgcctcaagttccggctgaac	8	17	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:36912143C>T	uc002hqr.2	+	3	274	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_002795	NP_002786	P49720	PSB3_HUMAN	proteasome beta 3 subunit	66					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				0						CAGTGCCCAGCGCCTCAAGTT	0.468													T	36912143	C	T	36912143	3	4	193	1	0	0	0	0	1	0	0	0	12678	768	27	1	206	1	PSMB3	17	36912143	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	429495	36912143	44283067	1374	106607											
SMARCE1	6605	broad.mit.edu	37	chr17	38792665	38792665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttttctgcttcgtattcGtttaaatattcttgtttttc	4	8	2	0	rs149613910	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:38792665G>A	uc002hux.2	-	6	475	c.351C>T	c.(349-351)AAC>AAT	p.N117N	SMARCE1_uc010wff.1_Silent_p.N82N|SMARCE1_uc010wfg.1_Silent_p.N47N|SMARCE1_uc002huy.2_Silent_p.N82N|SMARCE1_uc010wfh.1_Silent_p.N47N|SMARCE1_uc010wfi.1_Silent_p.N99N|SMARCE1_uc002huz.1_Silent_p.N82N|SMARCE1_uc010wfj.1_Silent_p.N99N	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	117	HMG box.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				CTTCGTATTCGTTTAAATATT	0.378													A	38792665	G	A	38792665	2	1	193	1	0	0	0	0	0	0	0	1	14780	1136	40	1		1	SMARCE1	17	38792665	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1880522	38792665	42402545	1375	106608											
KRT27	342574	broad.mit.edu	37	chr17	38936701	38936701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaagcgctagctcgtTttcaaaccttagaaaagtat	9	8	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:38936701T>C	uc002hvg.2	-	3	576	c.535A>G	c.(535-537)AAC>GAC	p.N179D		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	179	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				GCTAGCTCGTTTTCAAACCTT	0.448													C	38936701	T	C	38936701	3	2	193	1	0	0	0	0	1	0	0	0	8464	1841	64	3	868	3	KRT27	17	38936701	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	144036	38936701	42258509	1376	106609											
KRT28	162605	broad.mit.edu	37	chr17	38955765	38955765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtccacggcaagatccAggtccgtatttttcatacca	7	12	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:38955765A>G	uc002hvh.1	-	1	447	c.381T>C	c.(379-381)CCT>CCC	p.P127P		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	127	Rod.|Linker 1.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GGCAAGATCCAGGTCCGTATT	0.423													G	38955765	A	G	38955765	2	3	193	1	0	0	0	0	0	0	0	1	8465	175	7	3		3	KRT28	17	38955765	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	19064	38955765	42239445	1377	106610											
KRT12	3859	broad.mit.edu	37	chr17	39020028	39020028	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catactgcgcccgcatatcaTtgaggagcctggtgaggtcc	12	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:39020028T>A	uc002hvk.2	-	4	920	c.896A>T	c.(895-897)AAT>ATT	p.N299I		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	299	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CCGCATATCATTGAGGAGCCT	0.562													A	39020028	T	A	39020028	3	1	193	1	0	0	0	0	1	0	0	0	8449	1493	52	5	608	5	KRT12	17	39020028	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	64263	39020028	42175182	1378	106611											
NKIRAS2	28511	broad.mit.edu	37	chr17	40174474	40174474	+	Frame_Shift_Del	DEL	G	G	-													gggctccattgagacagaccGgggggtgcgagagcaggtgc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:40174474delG	uc002hyq.2	+	3	217	c.152delG	c.(151-153)CGGfs	p.R51fs	NKIRAS2_uc010wgd.1_Frame_Shift_Del_p.R51fs|NKIRAS2_uc002hyr.2_Frame_Shift_Del_p.R51fs|NKIRAS2_uc002hys.2_Frame_Shift_Del_p.R51fs|NKIRAS2_uc010wge.1_Frame_Shift_Del_p.R51fs|NKIRAS2_uc002hyt.2_Frame_Shift_Del_p.R51fs	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	51	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAGACAGACCGGGGGGTGCGA	0.567													-	40174474	G	-	40174474	7	5	193	1	0	1	0	1	0	0	0	0	10445	1116	39	0	158	0	NKIRAS2	17	40174474	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	1154446	40174474	41020736	1379	106612											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843980	40843980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccttactgccagtggcGccgaccttatgtgcgggtgg	16	12	0	0	rs142029931	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:40843980G>A	uc002iay.2	+	16	2717	c.2501G>A	c.(2500-2502)CGC>CAC	p.R834H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	834	Laminin G-like 3.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCCAGTGGCGCCGACCTTAT	0.602													A	40843980	G	A	40843980	3	1	193	1	0	0	0	0	1	0	0	0	3646	1087	38	1	2563	1	CNTNAP1	17	40843980	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	669506	40843980	40351230	1380	106613											
WNK4	65266	broad.mit.edu	37	chr17	40936583	40936583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgccgcgcaaatctacCgcaaggtcacttcggtgaga	11	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:40936583C>T	uc002ibj.2	+	4	1177	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	WNK4_uc010wgx.1_Silent_p.T79T|WNK4_uc002ibk.1_Missense_Mutation_p.R158C|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	386	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAAATCTACCGCAAGGTCAC	0.617													T	40936583	C	T	40936583	3	4	193	1	0	0	0	0	1	0	0	0	17377	652	23	1	1170	1	WNK4	17	40936583	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	92603	40936583	40258627	1381	106614											
G6PC	2538	broad.mit.edu	37	chr17	41063035	41063035	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcttcgccatcggAttttatctgctgctcaaggg	10	11	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:41063035A>T	uc002icb.1	+	5	745	c.666A>T	c.(664-666)GGA>GGT	p.G222G	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	222	Helical; (Potential).		G -> R (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCGCCATCGGATTTTATCTGC	0.493									Glycogen_Storage_Disease_type_Ia				T	41063035	A	T	41063035	2	4	193	1	0	0	0	0	0	0	0	1	6143	320	12	5		5	G6PC	17	41063035	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	126452	41063035	40132175	1382	106615											
FZD2	2535	broad.mit.edu	37	chr17	42636437	42636437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggagcggctcatggtgCgcatcggcgtcttctccgtg	15	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:42636437C>T	uc002igx.1	+	1	1513	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	461	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTCATGGTGCGCATCGGCGT	0.627													T	42636437	C	T	42636437	3	4	193	1	0	0	0	0	1	0	0	0	6130	768	27	1	1383	1	FZD2	17	42636437	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1573402	42636437	38558773	1383	106616											
PLEKHM1	9842	broad.mit.edu	37	chr17	43545801	43545801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttccagaggctgcctggGcaggaaggggctctgcaggt	18	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:43545801G>A	uc002ija.2	-	5	1252	c.1082C>T	c.(1081-1083)GCC>GTC	p.A361V	PLEKHM1_uc010wjm.1_Missense_Mutation_p.A333V|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A310V	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	361					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GGCTGCCTGGGCAGGAAGGGG	0.627													A	43545801	G	A	43545801	3	1	193	1	0	0	0	0	1	0	0	0	12080	1203	42	2	2120	2	PLEKHM1	17	43545801	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	909364	43545801	37649409	1384	106617											
NSF	4905	broad.mit.edu	37	chr17	44770370	44770370	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacgggagttcatgacacTgttgtcaaccagttgctgtc	11	10	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:44770370T>G	uc002iku.2	+	10	1151	c.1047T>G	c.(1045-1047)ACT>ACG	p.T349T	NSF_uc010wke.1_Silent_p.T255T|NSF_uc010wkf.1_Silent_p.T255T|NSF_uc010wkg.1_Silent_p.T344T	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	349					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCATGACACTGTTGTCAACC	0.418													G	44770370	T	G	44770370	2	3	193	1	0	0	0	0	0	0	0	1	10671	1567	55	5		5	NSF	17	44770370	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1224569	44770370	36424840	1385	106618											
KPNB1	3837	broad.mit.edu	37	chr17	45748109	45748109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttatgaagctgcagaCgttgctgatgatcaggaaga	13	7	1	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:45748109C>T	uc002ilt.1	+	12	1794	c.1458C>T	c.(1456-1458)GAC>GAT	p.D486D	KPNB1_uc010wkw.1_Silent_p.D341D|KPNB1_uc010wkx.1_Silent_p.D270D	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	486					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AAGCTGCAGACGTTGCTGATG	0.423													T	45748109	C	T	45748109	2	4	193	1	0	0	0	0	0	0	0	1	8435	535	19	1		1	KPNB1	17	45748109	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	977739	45748109	35447101	1386	106619											
RSAD1	55316	broad.mit.edu	37	chr17	48559584	48559584	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctggggctgccggcaCagcaggtggggccgtggctt	19	10	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:48559584C>T	uc002iqw.1	+	4	663	c.607C>T	c.(607-609)CAG>TAG	p.Q203*	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	203					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCTGCCGGCACAGCAGGTGGG	0.682											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48559584	C	T	48559584	4	4	193	1	0	0	0	0	0	1	0	0	13694	479	17	4	621	4	RSAD1	17	48559584	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2811475	48559584	32635626	1387	106620											
COIL	8161	broad.mit.edu	37	chr17	55028118	55028119	+	Frame_Shift_Ins	INS	-	-	T													tgctttattttttctcttgtINStttttttgctgacagtctga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:55028117_55028118G>GT	uc002iuu.3	-	1	516_517	c.485_486C>AC	c.(484-486)aacfs	p.N162fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	162						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)					TTTTTCTCTTGTTTTTTTTGCT	0.366													T	55028119	-	T	55028118	7	5	193	1	0	1	1	0	0	0	0	0	3665	1725	60	0	1269	0	COIL	17	55028118	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	6468534	55028118	26167092	1388	106621											
MKS1	54903	broad.mit.edu	37	chr17	56291179	56291179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactgtgatcacaccattGctatccaccttcagagtaca	5	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56291179G>A	uc002ivr.1	-	7	771	c.696C>T	c.(694-696)AGC>AGT	p.S232S	MKS1_uc010wnq.1_Silent_p.S29S|MKS1_uc002ivs.1_Silent_p.S232S	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	232					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						TCACACCATTGCTATCCACCT	0.483													A	56291179	G	A	56291179	2	1	193	1	0	0	0	0	0	0	0	1	9609	1310	46	2		2	MKS1	17	56291179	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1263061	56291179	24904031	1389	106622											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	193	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	143982	56435161	24760049	1390	106623											
HSF5	124535	broad.mit.edu	37	chr17	56536295	56536295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactggtctggcattttatGttggcatccacctaaaatat	8	8	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56536295G>T	uc002iwi.1	-	5	1678	c.1554C>A	c.(1552-1554)AAC>AAA	p.N518K		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	518						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCATTTTATGTTGGCATCCA	0.388													T	56536295	G	T	56536295	3	4	193	1	0	0	0	0	1	0	0	0	7399	1368	48	5	244	5	HSF5	17	56536295	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	101134	56536295	24658915	1391	106624											
TEX14	56155	broad.mit.edu	37	chr17	56707884	56707884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaaaaagtgctgtttgGcccaaggagttaactgcatc	10	9	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:56707884G>A	uc010dcz.1	-	3	286	c.168C>T	c.(166-168)GGC>GGT	p.G56G	TEX14_uc002iwr.1_Silent_p.G56G|TEX14_uc002iws.1_Silent_p.G56G|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	56	ANK 2.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGCTGTTTGGCCCAAGGAGT	0.393													A	56707884	G	A	56707884	2	1	193	1	0	0	0	0	0	0	0	1	15775	1190	42	2		2	TEX14	17	56707884	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	171589	56707884	24487326	1392	106625											
PPM1E	22843	broad.mit.edu	37	chr17	57050270	57050270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgaatggaagtctgtcGgtttccagagctattggtag	15	5	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:57050270G>A	uc002iwx.2	+	6	1321	c.1194G>A	c.(1192-1194)TCG>TCA	p.S398S	PPM1E_uc010ddd.2_Silent_p.S161S	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	407	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAGTCTGTCGGTTTCCAGAG	0.438													A	57050270	G	A	57050270	2	1	193	1	0	0	0	0	0	0	0	1	12338	1103	39	1		1	PPM1E	17	57050270	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	342386	57050270	24144940	1393	106626											
BCAS3	54828	broad.mit.edu	37	chr17	58988001	58988001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccacagtaattcacggCggagtcctttggtcccaggc	10	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:58988001C>T	uc002iyv.3	+	12	1040	c.931C>T	c.(931-933)CGG>TGG	p.R311W	BCAS3_uc010wow.1_Missense_Mutation_p.R98W|BCAS3_uc002iyu.3_Missense_Mutation_p.R311W|BCAS3_uc002iyw.3_Missense_Mutation_p.R307W|BCAS3_uc002iyx.1_Missense_Mutation_p.R126W|BCAS3_uc002iyy.3_Missense_Mutation_p.R82W	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	311						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TAATTCACGGCGGAGTCCTTT	0.502													T	58988001	C	T	58988001	3	4	193	1	0	0	0	0	1	0	0	0	1352	759	27	1	973	1	BCAS3	17	58988001	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1937731	58988001	22207209	1394	106627											
TLK2	11011	broad.mit.edu	37	chr17	60558534	60558534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgacggcaggaattattGgaggccaggtttactggagt	14	8	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:60558534G>A	uc010ddp.2	+	2	316	c.48G>A	c.(46-48)TTG>TTA	p.L16L	TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Silent_p.L16L|TLK2_uc002jaa.3_Silent_p.L16L|TLK2_uc010wpd.1_Silent_p.L16L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	16					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			stomach(1)|kidney(1)	2						AGGAATTATTGGAGGCCAGGT	0.358													A	60558534	G	A	60558534	2	1	193	1	0	0	0	0	0	0	0	1	15941	1339	47	4		4	TLK2	17	60558534	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1570533	60558534	20636676	1395	106628											
TLK2	11011	broad.mit.edu	37	chr17	60679539	60679539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaggtgctggtacttaTtggtaggtatccaggagctc	12	8	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:60679539T>C	uc010ddp.2	+	20	2191	c.1923T>C	c.(1921-1923)TAT>TAC	p.Y641Y	TLK2_uc002izx.3_Silent_p.Y467Y|TLK2_uc002izz.3_Silent_p.Y619Y|TLK2_uc002jaa.3_Silent_p.Y587Y|TLK2_uc010wpd.1_Silent_p.Y587Y	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	641	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			stomach(1)|kidney(1)	2						CTGGTACTTATTGGTAGGTAT	0.413													C	60679539	T	C	60679539	2	2	193	1	0	0	0	0	0	0	0	1	15941	1500	52	3		3	TLK2	17	60679539	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	121005	60679539	20515671	1396	106629											
ACE	1636	broad.mit.edu	37	chr17	61557223	61557223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggcatcccgctgaaacCgctgtacgaggatttcactg	12	12	1	1	rs148460287	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:61557223C>T	uc002jau.1	+	4	627	c.605C>T	c.(604-606)CCG>CTG	p.P202L	ACE_uc010wpi.1_Missense_Mutation_p.P202L|ACE_uc010ddu.1_Missense_Mutation_p.P19L	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	202	Extracellular (Potential).|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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	CCGCTGAAACCGCTGTACGAG	0.602													T	61557223	C	T	61557223	3	4	193	1	0	0	0	0	1	0	0	0	136	652	23	1	619	1	ACE	17	61557223	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	877684	61557223	19637987	1397	106630											
KCNH6	81033	broad.mit.edu	37	chr17	61619795	61619795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccttcaacctgcgggaCgtgagtcagggccaggtggg	16	11	3	1	rs75754003		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:61619795C>T	uc002jay.2	+	9	2228	c.2148C>T	c.(2146-2148)GAC>GAT	p.D716D	KCNH6_uc010wpl.1_Silent_p.D593D|KCNH6_uc010wpm.1_Silent_p.D716D|KCNH6_uc002jaz.1_Silent_p.D663D	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	716	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	ACCTGCGGGACGTGAGTCAGG	0.617													T	61619795	C	T	61619795	2	4	193	1	0	0	0	0	0	0	0	1	8036	550	19	1		1	KCNH6	17	61619795	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	62572	61619795	19575415	1398	106631											
KCNH6	81033	broad.mit.edu	37	chr17	61620997	61620997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaagaccaccaaggtTtctttctcagtgacaaccag	8	13	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:61620997T>C	uc002jay.2	+	10	2289	c.2209T>C	c.(2209-2211)TTC>CTC	p.F737L	KCNH6_uc010wpl.1_Missense_Mutation_p.F614L|KCNH6_uc010wpm.1_Missense_Mutation_p.F737L|KCNH6_uc002jaz.1_Missense_Mutation_p.F684L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	737	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CCACCAAGGTTTCTTTCTCAG	0.602													C	61620997	T	C	61620997	3	2	193	1	0	0	0	0	1	0	0	0	8036	1841	64	3	2247	3	KCNH6	17	61620997	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1202	61620997	19574213	1399	106632											
SCN4A	6329	broad.mit.edu	37	chr17	62025282	62025282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcgagccagcaccaggCgttggtgaagtacaccttaa	12	10	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:62025282C>T	uc002jds.1	-	17	3363	c.3286G>A	c.(3286-3288)GCC>ACC	p.A1096T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1096	III.|Helical; Name=S3 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CAGCACCAGGCGTTGGTGAAG	0.562													T	62025282	C	T	62025282	3	4	193	1	0	0	0	0	1	0	0	0	13920	768	27	1	2256	1	SCN4A	17	62025282	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	404285	62025282	19169928	1400	106633											
TEX2	55852	broad.mit.edu	37	chr17	62291193	62291193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagccaatggcactgTacttaatacttgtgctgctg	10	10	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:62291193T>C	uc002jec.2	-	2	558	c.385A>G	c.(385-387)ACA>GCA	p.T129A	TEX2_uc002jed.2_Missense_Mutation_p.T129A|TEX2_uc002jee.2_Missense_Mutation_p.T129A	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	129					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AATGGCACTGTACTTAATACT	0.547													C	62291193	T	C	62291193	3	2	193	1	0	0	0	0	1	0	0	0	15778	1638	57	3	3063	3	TEX2	17	62291193	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	265911	62291193	18904017	1401	106634											
AXIN2	8313	broad.mit.edu	37	chr17	63554010	63554010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccaaccacggttggcgaAagtttgcacttgaagtcggc	12	10	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:63554010A>G	uc002jfi.2	-	2	1018	c.729T>C	c.(727-729)CTT>CTC	p.L243L	AXIN2_uc010den.1_Silent_p.L243L|AXIN2_uc002jfh.2_Silent_p.L243L|AXIN2_uc002jfj.1_Silent_p.L243L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	243					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						CGGTTGGCGAAAGTTTGCACT	0.532									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				G	63554010	A	G	63554010	2	3	193	1	0	0	0	0	0	0	0	1	1237	1	1	3		3	AXIN2	17	63554010	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1262817	63554010	17641200	1402	106635											
HELZ	9931	broad.mit.edu	37	chr17	65105425	65105425	+	Frame_Shift_Del	DEL	A	A	-													cgatgagcaactgcactattAaaaaaagcattgttgggtcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:65105425delA	uc010wqk.1	-	29	4486	c.4299delT	c.(4297-4299)TTTfs	p.F1433fs	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Frame_Shift_Del_p.F1432fs|HELZ_uc010der.2_5'UTR	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTGCACTATTAAAAAAAGCAT	0.537													-	65105425	A	-	65105425	7	5	193	1	0	1	0	1	0	0	0	0	7049	359	13	0	1552	0	HELZ	17	65105425	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1551415	65105425	16089785	1403	106636											
KCNJ2	3759	broad.mit.edu	37	chr17	68171571	68171571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggtcaacagcttcacgGctgccttcctcttctccatt	7	16	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:68171571G>A	uc010dfg.2	+	2	792	c.391G>A	c.(391-393)GCT>ACT	p.A131T	KCNJ2_uc002jir.2_Missense_Mutation_p.A131T	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	131					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CAGCTTCACGGCTGCCTTCCT	0.498													A	68171571	G	A	68171571	3	1	193	1	0	0	0	0	1	0	0	0	8051	1203	42	2	393	2	KCNJ2	17	68171571	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3066146	68171571	13023639	1404	106637											
TTYH2	94015	broad.mit.edu	37	chr17	72227069	72227069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggaaacagcgagaccaaCgatggggcgtaccagctgat	13	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:72227069C>T	uc002jkc.2	+	3	376	c.345C>T	c.(343-345)AAC>AAT	p.N115N	TTYH2_uc010wqw.1_Silent_p.N94N	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	115	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						GCGAGACCAACGATGGGGCGT	0.542													T	72227069	C	T	72227069	2	4	193	1	0	0	0	0	0	0	0	1	16737	535	19	1		1	TTYH2	17	72227069	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4055498	72227069	8968141	1405	106638											
SLC25A19	60386	broad.mit.edu	37	chr17	73282486	73282486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgcctagaggcctggaGgatgccatggtactttgcgc	13	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:73282486G>A	uc002jns.3	-	2	1097	c.187C>T	c.(187-189)CTC>TTC	p.L63F	SLC25A19_uc010dge.2_Missense_Mutation_p.L63F|SLC25A19_uc002jnv.3_Missense_Mutation_p.L63F|SLC25A19_uc002jnu.3_Missense_Mutation_p.L63F|SLC25A19_uc002jnw.3_Missense_Mutation_p.L63F|SLC25A19_uc002jnt.3_Missense_Mutation_p.L63F	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	63	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	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)			GAGGCCTGGAGGATGCCATGG	0.547													A	73282486	G	A	73282486	3	1	193	1	0	0	0	0	1	0	0	0	14481	1000	35	4	795	4	SLC25A19	17	73282486	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1055417	73282486	7912724	1406	106639											
TNRC6C	57690	broad.mit.edu	37	chr17	76046405	76046405	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaacgggagaaggccgaaGgcgagataaagggattatag	17	4	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:76046405G>T	uc002jud.2	+	4	1862	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	TNRC6C_uc002juf.2_Missense_Mutation_p.R421M|TNRC6C_uc002jue.2_Missense_Mutation_p.R421M	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	421	Sufficient for interaction with argonaute family proteins.|Gly-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAAGGCCGAAGGCGAGATAAA	0.502													T	76046405	G	T	76046405	3	4	193	1	0	0	0	0	1	0	0	0	16339	1000	35	5	1264	5	TNRC6C	17	76046405	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2763919	76046405	5148805	1407	106640											
DNAH17	8632	broad.mit.edu	37	chr17	76557880	76557880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgagctgcccggccacGggaggcatgtttttgtggat	14	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:76557880G>A	uc002jvv.1	-	8	964	c.858C>T	c.(856-858)CCC>CCT	p.P286P						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCCACGGGAGGCATGT	0.577													A	76557880	G	A	76557880	2	1	193	1	0	0	0	0	0	0	0	1	4601	1103	39	1		1	DNAH17	17	76557880	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	511475	76557880	4637330	1408	106641											
GAA	2548	broad.mit.edu	37	chr17	78090907	78090907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatggtacgacctgcagaCggtgagtctggggaccctaa	13	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78090907C>T	uc002jxo.2	+	17	2512	c.2330C>T	c.(2329-2331)ACG>ATG	p.T777M	GAA_uc002jxp.2_Missense_Mutation_p.T777M|GAA_uc002jxq.2_Missense_Mutation_p.T777M	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	777					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GACCTGCAGACGGTGAGTCTG	0.662													T	78090907	C	T	78090907	3	4	193	1	0	0	0	0	1	0	0	0	6147	550	19	1	2388	1	GAA	17	78090907	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1533027	78090907	3104303	1409	106642											
RNF213	57674	broad.mit.edu	37	chr17	78351588	78351588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacggccatccttgctccGtgggagaggtgagtcttggt	14	11	1	2	rs148541222	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78351588G>A	uc002jyh.1	+	29	7979	c.7756G>A	c.(7756-7758)GTG>ATG	p.V2586M	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.V968M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTTGCTCCGTGGGAGAGGT	0.537													A	78351588	G	A	78351588	3	1	193	1	0	0	0	0	1	0	0	0	13477	1145	40	1	14066	1	RNF213	17	78351588	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	260681	78351588	2843622	1410	106643											
RNF213	57674	broad.mit.edu	37	chr17	78356807	78356807	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttgacacagaattgtcAactaaagaaatgaggaacaa	7	5	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78356807A>G	uc002jyh.1	+	33	8449	c.8226A>G	c.(8224-8226)TCA>TCG	p.S2742S	uc002jyi.1_Intron|RNF213_uc010dhw.1_3'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAATTGTCAACTAAAGAAA	0.428													G	78356807	A	G	78356807	2	3	193	1	0	0	0	0	0	0	0	1	13477	117	5	3		3	RNF213	17	78356807	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	5219	78356807	2838403	1411	106644											
RNF213	57674	broad.mit.edu	37	chr17	78363150	78363150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaaatgggtgatcagAcgattcacgtgttaaaggtg	12	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:78363150A>G	uc002jyh.1	+	40	9620	c.9397A>G	c.(9397-9399)ACG>GCG	p.T3133A	uc002jyi.1_Intron|RNF213_uc010dhx.1_Missense_Mutation_p.T77A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGTGATCAGACGATTCACGT	0.522													G	78363150	A	G	78363150	3	3	193	1	0	0	0	0	1	0	0	0	13477	275	10	3	15751	3	RNF213	17	78363150	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	6343	78363150	2832060	1412	106645											
BAHCC1	57597	broad.mit.edu	37	chr17	79411726	79411726	+	Frame_Shift_Del	DEL	C	C	-													ctgccctgcaccagaacctgCcccccggcttccccgcctcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:79411725_79411725GC>G	uc002kaf.2	+	6	2358	c.2358_2358GC>G	c.(2356-2358)ctgfs	p.L786fs	BAHCC1_uc002kae.2_Frame_Shift_Del_p.L47fs	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	848							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCAGAACCTGCCCCCCGGCT	0.706													-	79411726	C	-	79411726	7	5	193	1	0	1	0	1	0	0	0	0	1296	739	26	0	2406	0	BAHCC1	17	79411726	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1048576	79411726	1783484	1413	106646											
GPS1	2873	broad.mit.edu	37	chr17	80014934	80014934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctcccctgcagtccccGcccagagaagggagccaggg	13	15	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:80014934G>A	uc002kdl.1	+	13	1452	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P	GPS1_uc002kdk.1_Silent_p.P505P|GPS1_uc010dij.1_Silent_p.P504P|GPS1_uc002kdm.1_Silent_p.P449P|GPS1_uc002kdn.1_Silent_p.P465P|GPS1_uc002kdo.1_Silent_p.P468P|GPS1_uc010wvh.1_Silent_p.P461P	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	469					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	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)			TGCAGTCCCCGCCCAGAGAAG	0.652													A	80014934	G	A	80014934	2	1	193	1	0	0	0	0	0	0	0	1	6732	1074	38	1		1	GPS1	17	80014934	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	603208	80014934	1180276	1414	106647											
FASN	2194	broad.mit.edu	37	chr17	80039558	80039558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccttctcagccagcacaaAgctgctcaggaccatgtggg	11	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:80039558A>G	uc002kdu.2	-	37	6442	c.6325T>C	c.(6325-6327)TTT>CTT	p.F2109L	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2109	Beta-ketoacyl 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(1)	1	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)	GCCAGCACAAAGCTGCTCAGG	0.642													G	80039558	A	G	80039558	3	3	193	1	0	0	0	0	1	0	0	0	5683	72	3	3	1238	3	FASN	17	80039558	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	24624	80039558	1155652	1415	106648											
ZNF750	79755	broad.mit.edu	37	chr17	80789385	80789385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaatccgtaaggaatcgGcaggttagagggatattgct	13	5	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr17:80789385G>A	uc002kga.2	-	2	1257	c.946C>T	c.(946-948)CCG>TCG	p.P316S	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	316						intracellular	zinc ion binding			central_nervous_system(1)	1	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)			TAAGGAATCGGCAGGTTAGAG	0.542													A	80789385	G	A	80789385	3	1	193	1	0	0	0	0	1	0	0	0	18129	1203	42	2	1233	2	ZNF750	17	80789385	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	749827	80789385	405825	1416	106649											
COLEC12	81035	broad.mit.edu	37	chr18	335158	335158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccccttctctcctttctgtCccttgttgccagttgggcca	7	17	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:335158C>T	uc002kkm.2	-	6	1615	c.1400G>A	c.(1399-1401)GGA>GAA	p.G467E		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	467	Collagen-like 1.|Extracellular (Potential).				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			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTTTCTGTCCCTTGTTGCC	0.622													T	335158	C	T	335158	3	4	193	1	0	0	0	0	1	0	0	0	3712	855	30	4	848	4	COLEC12	18	335158	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08		335158	77742090	1417	106650											
MYOM1	8736	broad.mit.edu	37	chr18	3187584	3187584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgataaactcaggagcatGgagaagatggtcttcattca	10	6	4	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:3187584G>A	uc002klp.2	-	5	1157	c.823C>T	c.(823-825)CAT>TAT	p.H275Y	MYOM1_uc002klq.2_Missense_Mutation_p.H275Y	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	275						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TCAGGAGCATGGAGAAGATGG	0.403													A	3187584	G	A	3187584	3	1	193	1	0	0	0	0	1	0	0	0	10091	1348	47	4	4370	4	MYOM1	18	3187584	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2852426	3187584	74889664	1418	106651											
ANKRD12	23253	broad.mit.edu	37	chr18	9263859	9263861	+	In_Frame_Del	DEL	ACT	ACT	-													caggaagttgtaaggatgaaActacgtttgcaacacagtat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:9263859_9263861delACT	uc002knv.2	+	10	5993_5995	c.5736_5738delACT	c.(5734-5739)AAACTA>AAA	p.L1913del	ANKRD12_uc002knw.2_In_Frame_Del_p.L1890del|ANKRD12_uc002knx.2_In_Frame_Del_p.L1890del	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1913						nucleus				ovary(2)|central_nervous_system(1)	3						TAAGGATGAAACTACGTTTGCAA	0.296													-	9263861	ACT	-	9263859	7	5	193	1	0	1	0	1	0	0	0	0	640	40	2	0	5770	0	ANKRD12	18	9263859	In_Frame_Del	DEL	ACT	TCGA-CG-5726-01A-11D-1600-08	6076275	9263859	68813389	1419	106652											
TUBB6	84617	broad.mit.edu	37	chr18	12325459	12325459	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacaacgcccacctacggggAcctcaaccacctggtgtccg	10	17	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:12325459A>T	uc002kqw.2	+	4	716	c.671A>T	c.(670-672)GAC>GTC	p.D224V	TUBB6_uc002kqv.2_Missense_Mutation_p.D152V|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.D187V|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	224					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		ACCTACGGGGACCTCAACCAC	0.607													T	12325459	A	T	12325459	3	4	193	1	0	0	0	0	1	0	0	0	16757	275	10	5	685	5	TUBB6	18	12325459	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3061600	12325459	65751789	1420	106653											
CEP76	79959	broad.mit.edu	37	chr18	12678444	12678444	+	Splice_Site	DEL	A	A	-													gtaggtttatggatgtacctAaaaaaattaaataattttat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:12678443_12678443TA>T	uc002kri.3	-	10	1446	c.1290_splice	c.e10-1	p.R430_splice	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Splice_Site_p.R252_splice|CEP76_uc010wzz.2_Splice_Site_p.R355_splice	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	430					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						TGGATGTACCtaaaaaaatta	0.333													-	12678444	A	-	12678444	8	5	193	1	0	1	0	1	0	0	1	0	3261	377	13	0		0	CEP76	18	12678444	Splice_Site	DEL	A	TCGA-CG-5726-01A-11D-1600-08	352985	12678444	65398804	1421	106654											
ABHD3	171586	broad.mit.edu	37	chr18	19282375	19282375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataagatagtaggtctggtGctggcatccatataacacgt	10	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:19282375G>A	uc002ktl.2	-	3	551	c.411C>T	c.(409-411)AGC>AGT	p.S137S	ABHD3_uc002ktm.2_Silent_p.S137S|ABHD3_uc010xao.1_RNA|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Silent_p.S137S	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	137						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						TAGGTCTGGTGCTGGCATCCA	0.398													A	19282375	G	A	19282375	2	1	193	1	0	0	0	0	0	0	0	1	83	1310	46	2		2	ABHD3	18	19282375	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6603931	19282375	58794873	1422	106655											
MIB1	57534	broad.mit.edu	37	chr18	19395628	19395628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttttggagatgaaggcGctgttatagaagtactacat	11	6	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:19395628G>A	uc002ktq.2	+	11	1531	c.1531G>A	c.(1531-1533)GCT>ACT	p.A511T	MIB1_uc002ktp.2_Missense_Mutation_p.A150T	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	511	ANK 3.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			AGATGAAGGCGCTGTTATAGA	0.378													A	19395628	G	A	19395628	3	1	193	1	0	0	0	0	1	0	0	0	9566	1087	38	1	1573	1	MIB1	18	19395628	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	113253	19395628	58681620	1423	106656											
RBBP8	5932	broad.mit.edu	37	chr18	20573294	20573294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgattttcagctattcagCgtcaagagaaaagccaagga	9	8	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:20573294C>T	uc002ktw.2	+	11	1835	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C	RBBP8_uc002kty.2_Missense_Mutation_p.R502C|RBBP8_uc002ktz.2_Missense_Mutation_p.R502C|RBBP8_uc002kua.2_Missense_Mutation_p.R502C|RBBP8_uc002ktx.1_Missense_Mutation_p.R502C	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	502					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			ovary(1)|lung(1)|skin(1)	3	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)			AGCTATTCAGCGTCAAGAGAA	0.398								Direct_reversal_of_damage|Homologous_recombination					T	20573294	C	T	20573294	3	4	193	1	0	0	0	0	1	0	0	0	13105	768	27	1	1542	1	RBBP8	18	20573294	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1177666	20573294	57503954	1424	106657											
ZNF521	25925	broad.mit.edu	37	chr18	22804681	22804681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctttgaggcaagatgcGcacttatacagtttttggac	9	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:22804681G>A	uc002kvk.2	-	4	3448	c.3201C>T	c.(3199-3201)TGC>TGT	p.C1067C	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.C1067C|ZNF521_uc002kvl.2_Silent_p.C847C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1067	C2H2-type 25; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCAAGATGCGCACTTATACA	0.498			T	PAX5	ALL								A	22804681	G	A	22804681	2	1	193	1	0	0	0	0	0	0	0	1	17962	1079	38	1		1	ZNF521	18	22804681	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2231387	22804681	55272567	1425	106658											
AQP4	361	broad.mit.edu	37	chr18	24442217	24442217	+	Frame_Shift_Del	DEL	C	C	-													gattcctgctccaatgatggCccccaggcactgggctgcga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:24442217delC	uc002kwa.2	-	2	439	c.376delG	c.(376-378)GCCfs	p.A126fs	AQP4_uc002kvz.2_Frame_Shift_Del_p.A104fs	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	126	Helical; (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCAATGATGGCCCCCAGGCAC	0.557													-	24442217	C	-	24442217	7	5	193	1	0	1	0	1	0	0	0	0	828	739	26	0	611	0	AQP4	18	24442217	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1637536	24442217	53635031	1426	106659											
DSG2	1829	broad.mit.edu	37	chr18	29111033	29111033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaagtcgattaggagTaaatacaagcctacacccat	6	10	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:29111033T>C	uc002kwu.3	+	9	1286	c.1098T>C	c.(1096-1098)AGT>AGC	p.S366S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	366	Extracellular (Potential).|Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGATTAGGAGTAAATACAAGC	0.363													C	29111033	T	C	29111033	2	2	193	1	0	0	0	0	0	0	0	1	4777	1635	57	3		3	DSG2	18	29111033	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	4668816	29111033	48966215	1427	106660											
ELP2	55250	broad.mit.edu	37	chr18	33718382	33718382	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgactctggtctaaaaagggTccagaaggtaggtttggaga	14	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:33718382T>C	uc002kzk.1	+	4	448	c.438T>C	c.(436-438)GGT>GGC	p.G146G	ELP2_uc010xcg.1_Silent_p.G146G|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.G146G|ELP2_uc010xch.1_Silent_p.G146G|ELP2_uc002kzn.1_Silent_p.G146G|ELP2_uc002kzo.1_Silent_p.G146G	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	146	WD 3.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						CTAAAAAGGGTCCAGAAGGTA	0.383													C	33718382	T	C	33718382	2	2	193	1	0	0	0	0	0	0	0	1	5080	1654	58	3		3	ELP2	18	33718382	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	4607349	33718382	44358866	1428	106661											
SETBP1	26040	broad.mit.edu	37	chr18	42281711	42281711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatcaagatcaccatcAagcagtctggggaccagaag	11	10	4	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:42281711A>G	uc010dni.2	+	2	696	c.400A>G	c.(400-402)AAG>GAG	p.K134E	SETBP1_uc002lay.2_Missense_Mutation_p.K134E	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	134						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCACCATCAAGCAGTCTGG	0.473									Schinzel-Giedion_syndrome				G	42281711	A	G	42281711	3	3	193	1	0	0	0	0	1	0	0	0	14129	131	5	3	402	3	SETBP1	18	42281711	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	8563329	42281711	35795537	1429	106662											
SETBP1	26040	broad.mit.edu	37	chr18	42532057	42532057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaccggcatggccacCggcaaaagcatctcattgtg	10	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:42532057C>T	uc010dni.2	+	4	3048	c.2752C>T	c.(2752-2754)CGG>TGG	p.R918W		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	918						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCATGGCCACCGGCAAAAGCA	0.537									Schinzel-Giedion_syndrome				T	42532057	C	T	42532057	3	4	193	1	0	0	0	0	1	0	0	0	14129	643	23	1	2955	1	SETBP1	18	42532057	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	250346	42532057	35545191	1430	106663											
SIGLEC15	284266	broad.mit.edu	37	chr18	43418864	43418864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctagtgaccgccgaactGcccgcactgacccatgacgg	10	17	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:43418864G>A	uc002lbl.1	+	4	827	c.678G>A	c.(676-678)CTG>CTA	p.L226L	SIGLEC15_uc010xcp.1_RNA	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15 precursor	226	Extracellular (Potential).|Ig-like C2-type.					integral to membrane					0						CCGCCGAACTGCCCGCACTGA	0.731													A	43418864	G	A	43418864	2	1	193	1	0	0	0	0	0	0	0	1	14310	1306	46	2		2	SIGLEC15	18	43418864	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	886807	43418864	34658384	1431	106664											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566519	45566520	+	Frame_Shift_Ins	INS	-	-	C													ccttgatgggtcccagaggcINSccccccggcaggtcagggaa					rs113275715		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:45566518_45566519G>GC	uc010dnv.3	-	2	1462_1463	c.1026_1027C>GC	c.(1024-1029)gggcctfs	p.G342fs	ZBTB7C_uc002ldb.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnu.3_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dnw.3_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnx.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dny.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dnz.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doi.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doj.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dok.1_Frame_Shift_Ins_p.G369fs|ZBTB7C_uc010dol.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010doa.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dob.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doc.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dod.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010doe.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dof.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dog.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doh.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dom.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010don.1_Frame_Shift_Ins_p.G328fs|ZBTB7C_uc010dop.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doq.1_Frame_Shift_Ins_p.G329fs|ZBTB7C_uc010dor.1_Frame_Shift_Ins_p.G342fs|ZBTB7C_uc010dos.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dot.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010doo.1_Frame_Shift_Ins_p.G320fs|ZBTB7C_uc010dou.1_Frame_Shift_Ins_p.G329fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	320						intracellular	nucleic acid binding|zinc ion binding	p.L343L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624													C	45566520	-	C	45566519	7	5	193	1	0	1	1	0	0	0	0	0	17552	726	26	0	907	0	ZBTB7C	18	45566519	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	2147655	45566519	32510729	1432	106665											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-													gtcctccttgtcatcctcctCccccccgtcccccccaggct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:45567075_45567075TC>T	uc010dnv.3	-	2	906	c.470_470GA>A	c.(469-471)gagfs	p.E157fs	ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	135	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						gtcatcctcctcccccccgtc	0.577													-	45567076	C	-	45567076	7	5	193	1	0	1	0	1	0	0	0	0	17552	864	30	0	1464	0	ZBTB7C	18	45567076	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	557	45567076	32510172	1433	106666											
MYO5B	4645	broad.mit.edu	37	chr18	47438517	47438517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaccagcacccgatacCggttgaaaaagtcatggtag	10	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:47438517C>T	uc002leb.2	-	18	2405	c.2117G>A	c.(2116-2118)CGG>CAG	p.R706Q		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	706	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CACCCGATACCGGTTGAAAAA	0.557													T	47438517	C	T	47438517	3	4	193	1	0	0	0	0	1	0	0	0	10079	652	23	1	3521	1	MYO5B	18	47438517	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1871441	47438517	30638731	1434	106667											
CCDC11	220136	broad.mit.edu	37	chr18	47788456	47788456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttgcagtcattgtgcTggtcccactcagctttcaag	8	11	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:47788456T>C	uc002lee.2	-	2	294	c.203A>G	c.(202-204)CAG>CGG	p.Q68R		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	68										ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTCATTGTGCTGGTCCCACTC	0.438													C	47788456	T	C	47788456	3	2	193	1	0	0	0	0	1	0	0	0	2746	1580	55	3	1369	3	CCDC11	18	47788456	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	349939	47788456	30288792	1435	106668											
CXXC1	30827	broad.mit.edu	37	chr18	47812478	47812478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggccccaacccctgtccCtgaccctgcccggcgctgca	9	21	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:47812478C>A	uc002leq.3	-	4	1106	c.373G>T	c.(373-375)GGG>TGG	p.G125W	CXXC1_uc002lep.3_Translation_Start_Site|CXXC1_uc002ler.3_Missense_Mutation_p.G125W|CXXC1_uc010doy.2_Missense_Mutation_p.G125W|CXXC1_uc002les.2_Missense_Mutation_p.G125W	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	125					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			upper_aerodigestive_tract(1)|ovary(1)	2						ACCCCTGTCCCTGACCCTGCC	0.677													A	47812478	C	A	47812478	3	1	193	1	0	0	0	0	1	0	0	0	4097	681	24	5	1657	5	CXXC1	18	47812478	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	24022	47812478	30264770	1436	106669											
DCC	1630	broad.mit.edu	37	chr18	50976988	50976988	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagtgctggtagtggtcatCgtggctgtgatttgcacccg	14	9	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:50976988C>T	uc002lfe.1	+	23	3935	c.3348C>T	c.(3346-3348)ATC>ATT	p.I1116I	DCC_uc010dpf.1_Silent_p.I751I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1116	Helical; (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAGTGGTCATCGTGGCTGTGA	0.512													T	50976988	C	T	50976988	2	4	193	1	0	0	0	0	0	0	0	1	4282	874	31	1		1	DCC	18	50976988	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3164510	50976988	27100260	1437	106670											
C18orf26	284254	broad.mit.edu	37	chr18	52262284	52262284	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtctgcgtgaacccaGgaatccttgcacattcaaga	11	11	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:52262284G>T	uc002lfq.1	+	2	296	c.250G>T	c.(250-252)GGA>TGA	p.G84*	C18orf26_uc002lfp.1_Intron	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	hypothetical protein LOC284254	84						integral to membrane					0				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CGTGAACCCAGGAATCCTTGC	0.443													T	52262284	G	T	52262284	4	4	193	1	0	0	0	0	0	1	0	0	1900	1001	35	5	256	5	C18orf26	18	52262284	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1285296	52262284	25814964	1438	106671											
TCF4	6925	broad.mit.edu	37	chr18	52899750	52899750	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atactgttacctagatcttgAcctagtaattgatttgatat	6	6	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:52899750A>T	uc002lfz.2	-	17	2249	c.1637_splice	c.e17+1	p.S546_splice	TCF4_uc002lfw.3_Missense_Mutation_p.S387T|TCF4_uc010xdu.1_Splice_Site_p.S416_splice|TCF4_uc010xdv.1_Splice_Site_p.S416_splice|TCF4_uc002lfx.2_Missense_Mutation_p.S476T|TCF4_uc010xdw.1_Splice_Site_p.S416_splice|TCF4_uc002lfy.2_Splice_Site_p.S504_splice|TCF4_uc010xdx.1_Splice_Site_p.S522_splice|TCF4_uc010dph.1_Missense_Mutation_p.S547T|TCF4_uc010xdy.1_Missense_Mutation_p.S523T|TCF4_uc002lga.2_Missense_Mutation_p.S649T|TCF4_uc002lgb.1_Splice_Site_p.S386_splice|TCF4_uc010dpi.2_Missense_Mutation_p.S553T|TCF4_uc002lfv.2_Splice_Site_p.S329_splice	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b						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			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTAGATCTTGACCTAGTAATT	0.373													T	52899750	A	T	52899750	5	4	193	1	0	0	0	0	0	0	1	0	15692	289	10	5	388	5	TCF4	18	52899750	Splice_Site	SNP	A	TCGA-CG-5726-01A-11D-1600-08	637466	52899750	25177498	1439	106672											
ATP8B1	5205	broad.mit.edu	37	chr18	55319829	55319829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagataagctccaagaggtaTgaagaagaggatcatcgatg	12	6	1	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:55319829T>C	uc002lgw.2	-	24	3148	c.3148A>G	c.(3148-3150)ATA>GTA	p.I1050V	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1050	Helical; (Potential).				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(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CCAAGAGGTATGAAGAAGAGG	0.448									Byler_disease				C	55319829	T	C	55319829	3	2	193	1	0	0	0	0	1	0	0	0	1194	1464	51	3	623	3	ATP8B1	18	55319829	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2420079	55319829	22757419	1440	106673											
ZNF532	55205	broad.mit.edu	37	chr18	56651281	56651281	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagcaatcactcaaccactGaaaaagctgaaaatcaatgt	7	9	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:56651281G>A	uc002lho.2	+	11	4036	c.3489G>A	c.(3487-3489)CTG>CTA	p.L1163L	ZNF532_uc002lhp.2_Silent_p.L1161L|ZNF532_uc010xeg.1_Silent_p.L1161L|ZNF532_uc002lhr.2_Silent_p.L1161L|ZNF532_uc002lhs.2_Silent_p.L1161L|ZNF532_uc010xeh.1_Silent_p.L251L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CTCAACCACTGAAAAAGCTGA	0.493													A	56651281	G	A	56651281	2	1	193	1	0	0	0	0	0	0	0	1	17969	1277	45	4		4	ZNF532	18	56651281	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1331452	56651281	21425967	1441	106674											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	193	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-CG-5726-01A-11D-1600-08	362004	57013285	21063963	1442	106675											
KIAA1468	57614	broad.mit.edu	37	chr18	59933944	59933944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcttaggtaaaacctcAgttccaggagattttaagac	10	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:59933944A>G	uc002lil.2	+	19	2857	c.2642A>G	c.(2641-2643)CAG>CGG	p.Q881R	KIAA1468_uc002lik.1_Missense_Mutation_p.Q881R|KIAA1468_uc010xel.1_Missense_Mutation_p.Q881R|KIAA1468_uc002lim.2_Missense_Mutation_p.Q525R	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	881							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				GTAAAACCTCAGTTCCAGGAG	0.308													G	59933944	A	G	59933944	3	3	193	1	0	0	0	0	1	0	0	0	8236	188	7	3	2716	3	KIAA1468	18	59933944	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2920659	59933944	18143304	1443	106676											
DSEL	92126	broad.mit.edu	37	chr18	65179868	65179869	+	Frame_Shift_Ins	INS	-	-	T													ttaacaaattgagtccatcgINSttttttaaattcagcagctt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:65179868_65179869insT	uc002lke.1	-	2	3231_3232	c.2007_2008insA	c.(2005-2010)AAACGAfs	p.K669fs		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	659_660						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				TGAGTCCATCGTTTTTTAAATT	0.391													T	65179869	-	T	65179868	7	5	193	1	0	1	1	0	0	0	0	0	4775	1153	40	0	1664	0	DSEL	18	65179868	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	5245924	65179868	12897380	1444	106677	515	2									
DSEL	92126	broad.mit.edu	37	chr18	65179869	65179870	+	Frame_Shift_Ins	INS	-	-	T													taacaaattgagtccatcgtINStttttaaattcagcagcttg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:65179868_65179869G>GT	uc002lke.1	-	1	3231_3232	c.2007_2008C>AC	c.(2005-2010)aaacgafs	p.K669fs	DSEL_uc021ulg.1_Frame_Shift_Ins_p.K669fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	659						integral to membrane	isomerase activity|sulfotransferase activity	p.R670Q(1)|p.R670L(1)		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)				TGAGTCCATCGTTTTTTAAATT	0.391													T	65179870	-	T	65179869	7	5	193	1	0	1	1	0	0	0	0	0	4775	1722	60	0	1665	0	DSEL	18	65179869	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	65179869	12897379	1445	106678	515	2									
RTTN	25914	broad.mit.edu	37	chr18	67836277	67836277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaataatgctgttgaCataggctctgataaaaactc	9	6	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:67836277C>T	uc002lkp.2	-	12	1571	c.1503G>A	c.(1501-1503)ATG>ATA	p.M501I	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Intron|RTTN_uc002lkq.1_Missense_Mutation_p.M501I	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	501							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				ATGCTGTTGACATAGGCTCTG	0.303													T	67836277	C	T	67836277	3	4	193	1	0	0	0	0	1	0	0	0	13737	478	17	4	5329	4	RTTN	18	67836277	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2656408	67836277	10240971	1446	106679											
ADNP2	22850	broad.mit.edu	37	chr18	77893685	77893685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaatgttccatgcacCtgtccggaaagtccagaact	8	12	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr18:77893685C>A	uc002lnw.2	+	4	844	c.389C>A	c.(388-390)CCT>CAT	p.P130H		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	130					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCACCTGTCCGGAAA	0.413													A	77893685	C	A	77893685	3	1	193	1	0	0	0	0	1	0	0	0	324	681	24	5	399	5	ADNP2	18	77893685	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	10057408	77893685	183563	1447	106680											
GZMM	3004	broad.mit.edu	37	chr19	549785	549785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggtcaccggccgatcGgcctgatgccctggggtgat	16	11	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:549785G>A	uc002low.1	+	5	813	c.768G>A	c.(766-768)TCG>TCA	p.S256S		NM_005317	NP_005308	P51124	GRAM_HUMAN	granzyme M precursor	256					apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		CCGGCCGATCGGCCTGATGCC	0.662													A	549785	G	A	549785	2	1	193	1	0	0	0	0	0	0	0	1	6919	1103	39	1		1	GZMM	19	549785	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08		549785	58579198	1448	106681											
TLE2	7089	broad.mit.edu	37	chr19	3005766	3005766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccacaatgttgccatcGctgcagcaggagaagcaaac	10	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:3005766G>A	uc002lww.2	-	16	1964	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	TLE2_uc010xhb.1_Silent_p.S234S|TLE2_uc010dth.2_Silent_p.S568S|TLE2_uc010xhc.1_Silent_p.S445S|TLE2_uc010dti.2_Silent_p.S581S	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	567	WD 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		TGTTGCCATCGCTGCAGCAGG	0.662													A	3005766	G	A	3005766	2	1	193	1	0	0	0	0	0	0	0	1	15936	1078	38	1		1	TLE2	19	3005766	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2455981	3005766	56123217	1449	106682											
C19orf29	58509	broad.mit.edu	37	chr19	3619215	3619215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcgatgggcttggcccGcccgtcccggatgcggatct	15	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:3619215G>A	uc002lyh.2	-	5	963	c.910C>T	c.(910-912)CGG>TGG	p.R304W	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.R152W|C19orf29_uc002lyi.3_Missense_Mutation_p.R304W|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	304						catalytic step 2 spliceosome	protein binding				0		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)		GGCTTGGCCCGCCCGTCCCGG	0.627													A	3619215	G	A	3619215	3	1	193	1	0	0	0	0	1	0	0	0	1918	1086	38	1	1390	1	C19orf29	19	3619215	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	613449	3619215	55509768	1450	106683											
CREB3L3	84699	broad.mit.edu	37	chr19	4154961	4154961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggatctcctgtttgaCcggcaggacggcatcctgag	12	13	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4154961C>A	uc002lzl.2	+	2	209	c.93C>A	c.(91-93)GAC>GAA	p.D31E	CREB3L3_uc002lzm.2_Missense_Mutation_p.D22E|CREB3L3_uc010xib.1_Missense_Mutation_p.D22E|CREB3L3_uc010xic.1_Missense_Mutation_p.D22E	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	31	Cytoplasmic (Potential).				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			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGTTTGACCGGCAGGACG	0.622													A	4154961	C	A	4154961	3	1	193	1	0	0	0	0	1	0	0	0	3858	506	18	5	99	5	CREB3L3	19	4154961	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	535746	4154961	54974022	1451	106684											
SH3GL1	6455	broad.mit.edu	37	chr19	4363832	4363832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgccgcttcttcttgTagtcaaagtccaggcggcgg	12	13	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4363832T>C	uc002maj.2	-	6	615	c.509A>G	c.(508-510)TAC>TGC	p.Y170C	SH3GL1_uc002mak.2_Missense_Mutation_p.Y106C|SH3GL1_uc010xig.1_Missense_Mutation_p.Y122C	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	170	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTTCTTCTTGTAGTCAAAGTC	0.622			T	MLL	AL								C	4363832	T	C	4363832	3	2	193	1	0	0	0	0	1	0	0	0	14250	1638	57	3	617	3	SH3GL1	19	4363832	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	208871	4363832	54765151	1452	106685											
PLIN4	729359	broad.mit.edu	37	chr19	4511671	4511671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcccctgtgagcccagtGgacacagcatctttagtgcc	10	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4511671G>A	uc002mar.1	-	3	2259	c.2259C>T	c.(2257-2259)TCC>TCT	p.S753S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	753	27 X 33 AA approximate tandem repeat.|20.					lipid particle|plasma membrane					0						TGAGCCCAGTGGACACAGCAT	0.577													A	4511671	G	A	4511671	2	1	193	1	0	0	0	0	0	0	0	1	12092	1335	47	4		4	PLIN4	19	4511671	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	147839	4511671	54617312	1453	106686											
PLIN5	440503	broad.mit.edu	37	chr19	4523866	4523866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctcgtccacgcaggCgtgcgcgtgggccacgcgac	15	16	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4523866C>T	uc002mas.2	-	8	1119	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	356						lipid particle					0						TCCACGCAGGCGTGCGCGTGG	0.736													T	4523866	C	T	4523866	3	4	193	1	0	0	0	0	1	0	0	0	12093	768	27	1	329	1	PLIN5	19	4523866	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	12195	4523866	54605117	1454	106687											
PLIN3	10226	broad.mit.edu	37	chr19	4852236	4852236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgacaattgggtggccacCgtgtccttggcgctagacac	12	13	0	1	rs35640392		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:4852236C>T	uc002mbj.2	-	5	603	c.426G>A	c.(424-426)ACG>ACA	p.T142T	PLIN3_uc002mbk.2_Silent_p.T130T|PLIN3_uc002mbl.3_Silent_p.T142T	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	142					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	GGGTGGCCACCGTGTCCTTGG	0.632											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4852236	C	T	4852236	2	4	193	1	0	0	0	0	0	0	0	1	12091	639	23	1		1	PLIN3	19	4852236	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	328370	4852236	54276747	1455	106688											
PTPRS	5802	broad.mit.edu	37	chr19	5212459	5212459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatggtccggccacgccGtaaactggaactggcggacc	13	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:5212459G>A	uc002mbv.2	-	31	4892	c.4658C>T	c.(4657-4659)ACG>ATG	p.T1553M	PTPRS_uc002mbu.1_Missense_Mutation_p.T1122M|PTPRS_uc010xin.1_Missense_Mutation_p.T1095M|PTPRS_uc002mbw.2_Missense_Mutation_p.T1515M|PTPRS_uc002mbx.2_Missense_Mutation_p.T1110M|PTPRS_uc002mby.2_Missense_Mutation_p.T1106M	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1553	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGGCCACGCCGTAAACTGGAA	0.547													A	5212459	G	A	5212459	3	1	193	1	0	0	0	0	1	0	0	0	12811	1145	40	1	1220	1	PTPRS	19	5212459	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	360223	5212459	53916524	1456	106689											
ACSBG2	81616	broad.mit.edu	37	chr19	6182910	6182910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgtgtgggcaagaaacaTtggcttcaaggtcaactcaa	10	8	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:6182910T>C	uc002mef.1	+	9	1282	c.1055T>C	c.(1054-1056)ATT>ACT	p.I352T	ACSBG2_uc002mee.1_Missense_Mutation_p.I165T|ACSBG2_uc002meg.1_Missense_Mutation_p.I352T|ACSBG2_uc002meh.1_Missense_Mutation_p.I352T|ACSBG2_uc002mei.1_Missense_Mutation_p.I302T|ACSBG2_uc010xiz.1_Missense_Mutation_p.I352T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	352					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			ovary(1)	1						GCAAGAAACATTGGCTTCAAG	0.502													C	6182910	T	C	6182910	3	2	193	1	0	0	0	0	1	0	0	0	174	1493	52	3	1085	3	ACSBG2	19	6182910	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	970451	6182910	52946073	1457	106690											
TRIP10	9322	broad.mit.edu	37	chr19	6742993	6742993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagattcagccagcaacaGtccttcgtacagattctcca	6	15	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:6742993G>T	uc002mfs.2	+	4	279	c.213G>T	c.(211-213)CAG>CAT	p.Q71H	TRIP10_uc010dux.1_Missense_Mutation_p.Q71H|TRIP10_uc002mfr.2_Missense_Mutation_p.Q71H|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Intron	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	71	Required for podosome formation and interaction with AKAP9 and microtubules.|Induction of membrane tubulation.|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			ovary(1)	1						GCCAGCAACAGTCCTTCGTAC	0.587													T	6742993	G	T	6742993	3	4	193	1	0	0	0	0	1	0	0	0	16551	1020	36	5	227	5	TRIP10	19	6742993	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	560083	6742993	52385990	1458	106691											
PNPLA6	10908	broad.mit.edu	37	chr19	7621376	7621376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacctgtgttggacctcaCgtacccagtcacctccatgt	9	14	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:7621376C>T	uc010xjq.1	+	27	3356	c.3161C>T	c.(3160-3162)ACG>ATG	p.T1054M	PNPLA6_uc002mgq.1_Missense_Mutation_p.T1006M|PNPLA6_uc010xjp.1_Missense_Mutation_p.T979M|PNPLA6_uc002mgr.1_Missense_Mutation_p.T1006M|PNPLA6_uc002mgs.2_Missense_Mutation_p.T1044M|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1045	Patatin.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						TTGGACCTCACGTACCCAGTC	0.542													T	7621376	C	T	7621376	3	4	193	1	0	0	0	0	1	0	0	0	12169	536	19	1	3263	1	PNPLA6	19	7621376	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	878383	7621376	51507607	1459	106692											
XAB2	56949	broad.mit.edu	37	chr19	7692684	7692684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagggtcggtcacacagCgatgcttcacctgtgcccga	13	13	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:7692684C>T	uc002mgx.2	-	3	280	c.254G>A	c.(253-255)CGC>CAC	p.R85H	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	85					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GGTCACACAGCGATGCTTCAC	0.552								Direct_reversal_of_damage|NER					T	7692684	C	T	7692684	3	4	193	1	0	0	0	0	1	0	0	0	17415	768	27	1	2381	1	XAB2	19	7692684	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	71308	7692684	51436299	1460	106693											
MUC16	94025	broad.mit.edu	37	chr19	9071463	9071463	+	Frame_Shift_Del	DEL	G	G	-													cagagctggtttcttccacaGggggagttgtcatccatgac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:9071462_9071462AG>A	uc002mkp.3	-	2	16188	c.15984_15984CT>T	c.(15982-15984)cctfs	p.P5328fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5330	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						TTTCTTCCACAGGGGGAGTTG	0.537													-	9071463	G	-	9071463	7	5	193	1	0	1	0	1	0	0	0	0	9973	1000	35	0	27868	0	MUC16	19	9071463	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	1378779	9071463	50057520	1461	106694											
MUC16	94025	broad.mit.edu	37	chr19	9083944	9083944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaatttagaaggtggcGtggacacagttgaaaacaag	13	4	0	2	rs144088703	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:9083944G>A	uc002mkp.2	-	1	8075	c.7871C>T	c.(7870-7872)ACG>ATG	p.T2624M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2624	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGAAGGTGGCGTGGACACAGT	0.493													A	9083944	G	A	9083944	3	1	193	1	0	0	0	0	1	0	0	0	9973	1145	40	1	35988	1	MUC16	19	9083944	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	12481	9083944	50045039	1462	106695											
DNMT1	1786	broad.mit.edu	37	chr19	10257153	10257153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccaggaccctggggAtttctttttgcctcatctca	9	13	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:10257153A>G	uc002mng.2	-	27	2900	c.2720T>C	c.(2719-2721)ATC>ACC	p.I907T	DNMT1_uc002mnf.2_5'Flank|DNMT1_uc010xlc.1_Missense_Mutation_p.I923T|DNMT1_uc002mnh.2_Missense_Mutation_p.I802T|DNMT1_uc010xld.1_Missense_Mutation_p.I907T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	907					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			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			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)	GACCCTGGGGATTTCTTTTTG	0.562													G	10257153	A	G	10257153	3	3	193	1	0	0	0	0	1	0	0	0	4675	333	12	3	2186	3	DNMT1	19	10257153	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1173209	10257153	48871830	1463	106696											
ICAM4	3386	broad.mit.edu	37	chr19	10398355	10398355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtcatctattccgaaagcCtggagcgcttcaccggcctg	12	13	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:10398355C>A	uc002mns.1	+	2	577	c.538C>A	c.(538-540)CTG>ATG	p.L180M	ICAM4_uc002mnr.1_Missense_Mutation_p.P154H|ICAM4_uc002mnt.1_Missense_Mutation_p.L180M|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	180	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTCCGAAAGCCTGGAGCGCTT	0.617													A	10398355	C	A	10398355	3	1	193	1	0	0	0	0	1	0	0	0	7482	681	24	5	544	5	ICAM4	19	10398355	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	141202	10398355	48730628	1464	106697											
TYK2	7297	broad.mit.edu	37	chr19	10479000	10479000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatagcatcaggcttgcAtctctggggatctctaggat	10	8	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:10479000A>G	uc002moc.3	-	4	666	c.288T>C	c.(286-288)GAT>GAC	p.D96D	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.D96D	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	96	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			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGGCTTGCATCTCTGGGGA	0.537													G	10479000	A	G	10479000	2	3	193	1	0	0	0	0	0	0	0	1	16807	214	8	3		3	TYK2	19	10479000	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	80645	10479000	48649983	1465	106698											
SMARCA4	6597	broad.mit.edu	37	chr19	11145784	11145784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggactacagcgactcActgacggagaagcagtggct	15	9	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:11145784A>G	uc002mqf.3	+	29	4430	c.4146A>G	c.(4144-4146)TCA>TCG	p.S1382S	SMARCA4_uc010dxp.2_Silent_p.S1382S|SMARCA4_uc010dxo.2_Silent_p.S1382S|SMARCA4_uc010dxq.2_Silent_p.S1349S|SMARCA4_uc010dxr.2_Silent_p.S1349S|SMARCA4_uc002mqj.3_Silent_p.S1349S|SMARCA4_uc010dxs.2_Silent_p.S1349S|SMARCA4_uc010dxt.1_Silent_p.S569S|SMARCA4_uc002mqh.3_Silent_p.S472S|SMARCA4_uc002mqi.1_Silent_p.S552S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1382					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			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACAGCGACTCACTGACGGAGA	0.667			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				G	11145784	A	G	11145784	2	3	193	1	0	0	0	0	0	0	0	1	14770	146	6	3		3	SMARCA4	19	11145784	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	666784	11145784	47983199	1466	106699											
KANK2	25959	broad.mit.edu	37	chr19	11303705	11303705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctctgggcccgctgtgCgggggcgccagcggctgtgc	19	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:11303705C>T	uc010dxv.2	-	6	1609	c.1051G>A	c.(1051-1053)GCA>ACA	p.A351T	KANK2_uc002mqm.2_Missense_Mutation_p.A351T|KANK2_uc002mqo.3_Missense_Mutation_p.A351T|KANK2_uc002mqp.1_Missense_Mutation_p.A160T|KANK2_uc002mqq.2_Missense_Mutation_p.A351T	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	351											0						GCCCGCTGTGCGGGGGCGCCA	0.711													T	11303705	C	T	11303705	3	4	193	1	0	0	0	0	1	0	0	0	7977	768	27	1	1568	1	KANK2	19	11303705	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	157921	11303705	47825278	1467	106700											
ELAVL3	1995	broad.mit.edu	37	chr19	11569310	11569310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcgggacgtgatgatGcggccgtactgggagaagag	19	6	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:11569310G>A	uc002mry.1	-	4	830	c.450C>T	c.(448-450)CGC>CGT	p.R150R	ELAVL3_uc002mrx.1_Silent_p.R150R	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	150	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						ACGTGATGATGCGGCCGTACT	0.627													A	11569310	G	A	11569310	2	1	193	1	0	0	0	0	0	0	0	1	5051	1306	46	2		2	ELAVL3	19	11569310	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	265605	11569310	47559673	1468	106701											
MAN2B1	4125	broad.mit.edu	37	chr19	12759984	12759984	+	Frame_Shift_Del	DEL	C	C	-													agccatctctcaggctgctgCccccctgggagcggtcagtc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:12759983_12759983GC>G	uc002mub.2	-	19	2479	c.2403_2403GC>C	c.(2401-2403)ggcfs	p.G801fs	MAN2B1_uc010dyv.1_Frame_Shift_Del_p.G800fs	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	801			G -> D (in AM; no residual enzyme activity).		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						TCAGGCTGCTGCCCCCCTGGG	0.622													-	12759984	C	-	12759984	7	5	193	1	0	1	0	1	0	0	0	0	9216	739	26	0	653	0	MAN2B1	19	12759984	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	1190674	12759984	46368999	1469	106702											
MAN2B1	4125	broad.mit.edu	37	chr19	12772078	12772078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaggcgcactgacctgcGcatttaccagccggatgagc	14	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:12772078G>A	uc002mub.2	-	7	1098	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V	MAN2B1_uc010dyv.1_Missense_Mutation_p.A341V	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	341					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						ACTGACCTGCGCATTTACCAG	0.517													A	12772078	G	A	12772078	3	1	193	1	0	0	0	0	1	0	0	0	9216	1087	38	1	2085	1	MAN2B1	19	12772078	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	12094	12772078	46356905	1470	106703											
HOOK2	29911	broad.mit.edu	37	chr19	12883718	12883718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttctgacacaggatgCgccaggacctggggagaagg	15	10	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:12883718C>T	uc002muy.2	-	5	435	c.264G>A	c.(262-264)GCG>GCA	p.A88A	HOOK2_uc002muz.2_Silent_p.A88A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	88	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				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			ovary(1)|breast(1)|skin(1)	3						ACACAGGATGCGCCAGGACCT	0.592													T	12883718	C	T	12883718	2	4	193	1	0	0	0	0	0	0	0	1	7283	755	27	1		1	HOOK2	19	12883718	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	111640	12883718	46245265	1471	106704											
SYCE2	256126	broad.mit.edu	37	chr19	13010838	13010838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaagtagtttcagccaCagaagaaacgaacacgtctg	10	9	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:13010838C>T	uc002mvr.2	-	5	607	c.592G>A	c.(592-594)GTG>ATG	p.V198M		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	198					cell division	central element					0						GTTTCAGCCACAGAAGAAACG	0.552													T	13010838	C	T	13010838	3	4	193	1	0	0	0	0	1	0	0	0	15426	478	17	4	72	4	SYCE2	19	13010838	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	127120	13010838	46118145	1472	106705											
RFX1	5989	broad.mit.edu	37	chr19	14090271	14090271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacacctcttgagccacGtggactggctggaggccctg	12	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:14090271G>A	uc002mxv.2	-	7	1094	c.822C>T	c.(820-822)CAC>CAT	p.H274H	RFX1_uc010dzi.2_Silent_p.H274H	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	274					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTTGAGCCACGTGGACTGGCT	0.701													A	14090271	G	A	14090271	2	1	193	1	0	0	0	0	0	0	0	1	13262	1136	40	1		1	RFX1	19	14090271	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1079433	14090271	45038712	1473	106706											
LPHN1	22859	broad.mit.edu	37	chr19	14273457	14273457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaactccaggctgtagcGcaccacgaaatagttgttcc	9	14	0	0	rs138963845		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:14273457G>A	uc010xnn.1	-	6	1467	c.1171C>T	c.(1171-1173)CGC>TGC	p.R391C	LPHN1_uc010xno.1_Missense_Mutation_p.R386C|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	391	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						AGGCTGTAGCGCACCACGAAA	0.607													A	14273457	G	A	14273457	3	1	193	1	0	0	0	0	1	0	0	0	8915	1087	38	1	3329	1	LPHN1	19	14273457	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	183186	14273457	44855526	1474	106707											
SLC1A6	6511	broad.mit.edu	37	chr19	15082660	15082660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtaggtgagctgatatgGgcgcagggcaaaggccaggc	19	8	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15082660G>A	uc002naa.1	-	2	240	c.232C>T	c.(232-234)CCA>TCA	p.P78S	SLC1A6_uc010dzu.1_Missense_Mutation_p.P78S|SLC1A6_uc010xod.1_Missense_Mutation_p.P82L|SLC1A6_uc002nab.2_Missense_Mutation_p.P78S|SLC1A6_uc002nac.2_Missense_Mutation_p.P78S|SLC1A6_uc002nad.1_Missense_Mutation_p.P78S	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	78					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	AGCTGATATGGGCGCAGGGCA	0.468													A	15082660	G	A	15082660	3	1	193	1	0	0	0	0	1	0	0	0	14436	1232	43	4	1494	4	SLC1A6	19	15082660	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	809203	15082660	44046323	1475	106708											
SYDE1	85360	broad.mit.edu	37	chr19	15224480	15224480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggtgactcggccccgCggtcgaggaggccccgaaag	17	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15224480C>T	uc002nah.1	+	8	1945	c.1914C>T	c.(1912-1914)CGC>CGT	p.R638R	SYDE1_uc002nai.1_Silent_p.R571R|SYDE1_uc002naj.1_Silent_p.R295R	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	638					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CTCGGCCCCGCGGTCGAGGAG	0.682													T	15224480	C	T	15224480	2	4	193	1	0	0	0	0	0	0	0	1	15432	755	27	1		1	SYDE1	19	15224480	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	141820	15224480	43904503	1476	106709											
AKAP8	10270	broad.mit.edu	37	chr19	15479059	15479059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcacctgtcggctgcacGgtcccgcgtcctgtctcttc	10	18	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15479059G>A	uc002nav.2	-	9	1208	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.R197C	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	383					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						TCGGCTGCACGGTCCCGCGtc	0.453													A	15479059	G	A	15479059	3	1	193	1	0	0	0	0	1	0	0	0	457	1116	39	1	955	1	AKAP8	19	15479059	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	254579	15479059	43649924	1477	106710											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582709	15582709	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccctcctacctgtagccGatgtctccccagccttgcgt	9	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15582709G>A	uc002nbf.3	-	3	1468	c.1335C>T	c.(1333-1335)ATC>ATT	p.I445I	PGLYRP2_uc002nbg.3_Silent_p.I445I	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	445					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			ovary(3)	3						ACCTGTAGCCGATGTCTCCCC	0.692													A	15582709	G	A	15582709	2	1	193	1	0	0	0	0	0	0	0	1	11794	1048	37	1		1	PGLYRP2	19	15582709	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	103650	15582709	43546274	1478	106711											
CYP4F22	126410	broad.mit.edu	37	chr19	15640536	15640536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaccttccaaatgaggCgggccttcaagatgagaaga	12	9	1	4	rs116743462	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15640536C>T	uc002nbh.3	+	4	406	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	80						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CCAAATGAGGCGGGCCTTCAA	0.557													T	15640536	C	T	15640536	3	4	193	1	0	0	0	0	1	0	0	0	4189	768	27	1	245	1	CYP4F22	19	15640536	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	57827	15640536	43488447	1479	106712											
OR10H5	284433	broad.mit.edu	37	chr19	15905054	15905054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacctcttcctgtgtgccCtctccatcaccgagatcctc	6	17	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:15905054C>A	uc010xos.1	+	1	196	c.196C>A	c.(196-198)CTC>ATC	p.L66I		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCTGTGTGCCCTCTCCATCAC	0.627													A	15905054	C	A	15905054	3	1	193	1	0	0	0	0	1	0	0	0	10909	681	24	5	198	5	OR10H5	19	15905054	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	264518	15905054	43223929	1480	106713											
EPS15L1	58513	broad.mit.edu	37	chr19	16528865	16528865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgaaatacatagctaacGcgaattggtctttgcttaac	8	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:16528865G>A	uc002ndz.1	-	11	1007	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	EPS15L1_uc002ndx.2_Missense_Mutation_p.A334V|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.A224V|EPS15L1_uc010xpf.1_Missense_Mutation_p.A237V|EPS15L1_uc002nea.1_Missense_Mutation_p.A334V|EPS15L1_uc010eah.1_Missense_Mutation_p.A334V|EPS15L1_uc002neb.1_Missense_Mutation_p.A180V|EPS15L1_uc002nec.1_Missense_Mutation_p.A334V	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	334	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			ovary(3)|skin(2)	5						CATAGCTAACGCGAATTGGTC	0.562											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16528865	G	A	16528865	3	1	193	1	0	0	0	0	1	0	0	0	5193	1087	38	1	1645	1	EPS15L1	19	16528865	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	623811	16528865	42600118	1481	106714											
NWD1	284434	broad.mit.edu	37	chr19	16860457	16860457	+	Frame_Shift_Del	DEL	C	C	-													cgatgacagcaagcagcacaCccccctggtactctttgggc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:16860457delC	uc002neu.3	+	6	1426	c.1004delC	c.(1003-1005)ACCfs	p.T335fs	NWD1_uc002net.3_Frame_Shift_Del_p.T200fs|NWD1_uc002nev.3_Frame_Shift_Del_p.T129fs			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	335	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						AAGCAGCACACCCCCCTGGTA	0.617													-	16860457	C	-	16860457	7	5	193	1	0	1	0	1	0	0	0	0	10781	507	18	0	605	0	NWD1	19	16860457	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	331592	16860457	42268526	1482	106715											
CPAMD8	27151	broad.mit.edu	37	chr19	17036177	17036177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagggttggccccatgaCgtcccctggtgggaaggaga	16	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:17036177C>T	uc002nfb.2	-	26	3549	c.3517G>A	c.(3517-3519)GTC>ATC	p.V1173I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1126						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGCCCCATGACGTCCCCTGGT	0.557													T	17036177	C	T	17036177	3	4	193	1	0	0	0	0	1	0	0	0	3795	536	19	1	2349	1	CPAMD8	19	17036177	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	175720	17036177	42092806	1483	106716											
MYO9B	4650	broad.mit.edu	37	chr19	17298813	17298813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcatgctggagaccgtgCgcatccggaggtcagggtac	16	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:17298813C>T	uc010eak.2	+	19	2799	c.2647C>T	c.(2647-2649)CGC>TGC	p.R883C	MYO9B_uc002nfi.2_Missense_Mutation_p.R883C|MYO9B_uc002nfj.1_Missense_Mutation_p.R883C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	883	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(1)	1						GGAGACCGTGCGCATCCGGAG	0.577													T	17298813	C	T	17298813	3	4	193	1	0	0	0	0	1	0	0	0	10085	768	27	1	2717	1	MYO9B	19	17298813	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	262636	17298813	41830170	1484	106717											
ARRDC2	27106	broad.mit.edu	37	chr19	18120836	18120836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcgttctacacgtggaCtacgcactcaaggtagggca	12	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:18120836C>G	uc002nhv.2	+	5	980	c.837C>G	c.(835-837)GAC>GAG	p.D279E	ARRDC2_uc002nhu.2_Missense_Mutation_p.D274E	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	279										pancreas(1)	1						TACACGTGGACTACGCACTCA	0.672													G	18120836	C	G	18120836	3	3	193	1	0	0	0	0	1	0	0	0	983	564	20	5	1118	5	ARRDC2	19	18120836	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	822023	18120836	41008147	1485	106718											
KLHL26	55295	broad.mit.edu	37	chr19	18779651	18779651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggccctgcactgctacGaccccgtggccgaccagtgg	13	15	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:18779651G>A	uc002njz.1	+	3	1471	c.1444G>A	c.(1444-1446)GAC>AAC	p.D482N		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	482	Kelch 4.									ovary(1)	1						GCACTGCTACGACCCCGTGGC	0.692													A	18779651	G	A	18779651	3	1	193	1	0	0	0	0	1	0	0	0	8381	1058	37	1	1454	1	KLHL26	19	18779651	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	658815	18779651	40349332	1486	106719											
SF4	57794	broad.mit.edu	37	chr19	19388563	19388563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcactgggttcttgatGccctggccctctgagcccag	11	13	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:19388563G>A	uc002nmh.2	-	12	1763	c.1761C>T	c.(1759-1761)GGC>GGT	p.G587G	SF4_uc002nmf.2_Silent_p.G137G|SF4_uc002nmg.2_Silent_p.G137G|SF4_uc002nmi.2_Silent_p.G377G|SF4_uc002nmj.2_Silent_p.G377G|SF4_uc002nme.2_Silent_p.G137G	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	587	G-patch.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						GGTTCTTGATGCCCTGGCCCT	0.597													A	19388563	G	A	19388563	2	1	193	1	0	0	0	0	0	0	0	1	14155	1306	46	2		2	SF4	19	19388563	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	608912	19388563	39740420	1487	106720											
CILP2	148113	broad.mit.edu	37	chr19	19654065	19654065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatccaggttccacaAtgggaccctgctggacaggc	11	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:19654065A>G	uc002nmv.3	+	7	1071	c.986A>G	c.(985-987)AAT>AGT	p.N329S	CILP2_uc002nmw.3_Missense_Mutation_p.N335S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	329	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						AGGTTCCACAATGGGACCCTG	0.652													G	19654065	A	G	19654065	3	3	193	1	0	0	0	0	1	0	0	0	3430	101	4	3	1012	3	CILP2	19	19654065	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	265502	19654065	39474918	1488	106721											
GMIP	51291	broad.mit.edu	37	chr19	19741100	19741100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcggctgaagtggccaCgagactgtgtccccaggagt	16	11	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:19741100C>T	uc002nnd.2	-	21	2702	c.2585G>A	c.(2584-2586)CGT>CAT	p.R862H	LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.R836H|GMIP_uc010xrc.1_Missense_Mutation_p.R833H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	862					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GAAGTGGCCACGAGACTGTGT	0.622													T	19741100	C	T	19741100	3	4	193	1	0	0	0	0	1	0	0	0	6491	536	19	1	331	1	GMIP	19	19741100	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	87035	19741100	39387883	1489	106722											
ZNF675	171392	broad.mit.edu	37	chr19	23836431	23836431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcagtaagttttgaggatCggttaaaagctttgccacat	10	6	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:23836431C>T	uc002nri.2	-	4	1486	c.1304G>A	c.(1303-1305)CGA>CAA	p.R435Q		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	435	C2H2-type 11.				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			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTGAGGATCGGTTAAAAGC	0.378													T	23836431	C	T	23836431	3	4	193	1	0	0	0	0	1	0	0	0	18079	884	31	1	406	1	ZNF675	19	23836431	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4095331	23836431	35292552	1490	106723											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698468	29698468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcttaaccaacaatcAccatatcgtcactggtgaac	5	12	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:29698468A>G	uc002nsd.2	-	2	923	c.812T>C	c.(811-813)GTG>GCG	p.V271A		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	271	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			ACCAACAATCACCATATCGTC	0.463													G	29698468	A	G	29698468	3	3	193	1	0	0	0	0	1	0	0	0	17018	159	6	3	16	3	UQCRFS1	19	29698468	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	5862037	29698468	29430515	1491	106724											
LRP3	4037	broad.mit.edu	37	chr19	33693789	33693789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggagcagcacacggagCggcgtggggtcatctacagc	16	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:33693789C>T	uc010edh.2	+	3	250	c.157C>T	c.(157-159)CGG>TGG	p.R53W	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'Flank	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	53	Extracellular (Potential).|CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					GCACACGGAGCGGCGTGGGGT	0.652													T	33693789	C	T	33693789	3	4	193	1	0	0	0	0	1	0	0	0	8958	759	27	1	167	1	LRP3	19	33693789	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3995321	33693789	25435194	1492	106725											
CHST8	64377	broad.mit.edu	37	chr19	34263795	34263795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatccgcgcgccgcggaacCtgaccttcccccggttcaag	10	18	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:34263795C>A	uc002nus.3	+	5	1607	c.1102C>A	c.(1102-1104)CTG>ATG	p.L368M	CHST8_uc002nut.3_Missense_Mutation_p.L368M|CHST8_uc002nuu.2_Missense_Mutation_p.L368M	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	368	Lumenal (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					GCCGCGGAACCTGACCTTCCC	0.632													A	34263795	C	A	34263795	3	1	193	1	0	0	0	0	1	0	0	0	3410	680	24	5	1112	5	CHST8	19	34263795	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	570006	34263795	24865188	1493	106726											
KCTD15	79047	broad.mit.edu	37	chr19	34292185	34292186	+	Missense_Mutation	DNP	CG	CG	TA													tccaatgcacctgtgcacatCgatgtgggcggccacatgta							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:34292185_34292186CG>TA	uc002nuy.3	+	4	448_449	c.180_181CG>TA	c.(178-183)ATCGAT>ATTAAT	p.D61N	KCTD15_uc002nuv.2_Missense_Mutation_p.D61N|KCTD15_uc002nuw.3_Missense_Mutation_p.D61N|KCTD15_uc010xrt.1_Missense_Mutation_p.D61N|KCTD15_uc002nux.3_Missense_Mutation_p.D61N	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	61	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CTGTGCACATCGATGTGGGCGG	0.619													TA	34292186	CG	TA	34292185	3	4	193	1	0	0	0	0	1	0	0	0	8102	874	31	1	186	1	KCTD15	19	34292185	Missense_Mutation	DNP	CG	TCGA-CG-5726-01A-11D-1600-08	28390	34292185	24836798	1494	106727											
KIAA0355	9710	broad.mit.edu	37	chr19	34791601	34791601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacactactcctatcgccGacatccagcagggcatctcc	6	19	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:34791601G>A	uc002nvd.3	+	2	1082	c.223G>A	c.(223-225)GAC>AAC	p.D75N	KIAA0355_uc010edk.1_Missense_Mutation_p.D65N	NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	75										ovary(1)	1	Esophageal squamous(110;0.162)					TCCTATCGCCGACATCCAGCA	0.602													A	34791601	G	A	34791601	3	1	193	1	0	0	0	0	1	0	0	0	8170	1058	37	1	225	1	KIAA0355	19	34791601	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	499416	34791601	24337382	1495	106728											
ATP4A	495	broad.mit.edu	37	chr19	36049337	36049337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtagcccatggcgttgCccagcgtcagctccgagaac	12	16	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36049337C>T	uc002oal.1	-	10	1456	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	476	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	CATGGCGTTGCCCAGCGTCAG	0.657													T	36049337	C	T	36049337	3	4	193	1	0	0	0	0	1	0	0	0	1145	739	26	2	1732	2	ATP4A	19	36049337	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1257736	36049337	23079646	1496	106729											
MLL4	9757	broad.mit.edu	37	chr19	36215889	36215889	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccccacctttcctccccaGgatgctttggcccctggccc	7	21	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36215889G>T	uc010eei.2	+	11	3430	c.3430_splice	c.e11-1	p.D1144_splice		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4						chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCCTCCCCAGGATGCTTTGG	0.597													T	36215889	G	T	36215889	5	4	193	1	0	0	0	0	0	0	1	0	9623	1014	35	5	3467	5	MLL4	19	36215889	Splice_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	166552	36215889	22913094	1497	106730											
MLL4	9757	broad.mit.edu	37	chr19	36223476	36223476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaggaagagattgtagCcgctggggccatggggagca	16	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36223476C>T	uc010eei.2	+	29	6026	c.6026C>T	c.(6025-6027)GCC>GTC	p.A2009V		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2009					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGATTGTAGCCGCTGGGGCC	0.657													T	36223476	C	T	36223476	3	4	193	1	0	0	0	0	1	0	0	0	9623	739	26	2	6136	2	MLL4	19	36223476	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	7587	36223476	22905507	1498	106731											
MLL4	9757	broad.mit.edu	37	chr19	36223858	36223858	+	Frame_Shift_Del	DEL	C	C	-													ggccctagagaggagtcactCcccccggcgcctcccctggc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36223858delC	uc010eei.2	+	29	6408	c.6408delC	c.(6406-6408)CTCfs	p.L2136fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2136					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGTCACTCCCCCCGGCGC	0.662													-	36223858	C	-	36223858	7	5	193	1	0	1	0	1	0	0	0	0	9623	842	30	0	6518	0	MLL4	19	36223858	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	382	36223858	22905125	1499	106732											
LRFN3	79414	broad.mit.edu	37	chr19	36430917	36430917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggcttctgtgcccgCcggcgctttttcccgcctgc	11	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:36430917C>T	uc002oco.2	+	2	1042	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	197	Extracellular (Potential).|LRR 6.			Missing (in Ref. 2; AAQ88494).	cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			TCTGTGCCCGCCGGCGCTTTT	0.667													T	36430917	C	T	36430917	3	4	193	1	0	0	0	0	1	0	0	0	8939	739	26	2	592	2	LRFN3	19	36430917	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	207059	36430917	22698066	1500	106733											
ZNF382	84911	broad.mit.edu	37	chr19	37117434	37117434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctccagagcaaccatTtgaccataatgaatgtgaaa	7	9	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:37117434T>C	uc002oek.2	+	5	748	c.635T>C	c.(634-636)TTT>TCT	p.F212S	ZNF382_uc010efa.2_Missense_Mutation_p.F163S|ZNF382_uc010efb.2_Missense_Mutation_p.F211S|ZNF382_uc002oel.2_Missense_Mutation_p.F211S	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	212	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGCAACCATTTGACCATAAT	0.378													C	37117434	T	C	37117434	3	2	193	1	0	0	0	0	1	0	0	0	17870	1841	64	3	645	3	ZNF382	19	37117434	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	686517	37117434	22011549	1501	106734											
ZNF568	374900	broad.mit.edu	37	chr19	37488248	37488248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtggctcagaacttacccGacatcagagagctcatactg	9	12	3	2	rs148872903	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:37488248G>A	uc010efg.2	+	10	2170	c.1613G>A	c.(1612-1614)CGA>CAA	p.R538Q	ZNF568_uc010xtn.1_Missense_Mutation_p.R476Q|uc010efi.2_Missense_Mutation_p.R356Q|uc010efj.2_Missense_Mutation_p.R356Q			Q3ZCX4	ZN568_HUMAN	SubName: Full=cDNA FLJ57578, moderately similar to Mus musculus zinc finger protein 568 (Zfp568), mRNA;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACTTACCCGACATCAGAGA	0.438													A	37488248	G	A	37488248	3	1	193	1	0	0	0	0	1	0	0	0	17996	1073	37	1		1	ZNF568	19	37488248	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	370814	37488248	21640735	1502	106735											
ZNF585A	199704	broad.mit.edu	37	chr19	37647242	37647242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcgatagccacatcccTgaaggacactgatccctgta	8	12	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:37647242T>C	uc002ofo.1	-	3	319	c.88A>G	c.(88-90)AGG>GGG	p.R30G	ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCACATCCCTGAAGGACACT	0.488													C	37647242	T	C	37647242	3	2	193	1	0	0	0	0	1	0	0	0	18014	1595	55	3		3	ZNF585A	19	37647242	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	158994	37647242	21481741	1503	106736											
SIPA1L3	23094	broad.mit.edu	37	chr19	38597247	38597247	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatgttccatgtctccacCctgctcccttacacccccaa	3	19	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:38597247C>A	uc002ohk.2	+	7	2609	c.2100C>A	c.(2098-2100)ACC>ACA	p.T700T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	700	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGTCTCCACCCTGCTCCCTT	0.572													A	38597247	C	A	38597247	2	1	193	1	0	0	0	0	0	0	0	1	14331	610	22	5		5	SIPA1L3	19	38597247	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	950005	38597247	20531736	1504	106737											
LGALS7B	653499	broad.mit.edu	37	chr19	39281375	39281375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagggctccgatgccGccctgcatttcaacccccgg	12	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:39281375G>A	uc002ojf.3	+	3	159	c.142G>A	c.(142-144)GCC>ACC	p.A48T		NM_001042507	NP_001035972	P47929	LEG7_HUMAN	galectin-7B	48	Galectin.				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding				0						CTCCGATGCCGCCCTGCATTT	0.637													A	39281375	G	A	39281375	3	1	193	1	0	0	0	0	1	0	0	0	8746	1087	38	1	152	1	LGALS7B	19	39281375	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	684128	39281375	19847608	1505	106738											
NCCRP1	342897	broad.mit.edu	37	chr19	39690989	39690989	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgactccgcctgcaggttCgaggacagccggctggatgc	14	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:39690989C>T	uc002okq.1	+	5	571	c.552C>T	c.(550-552)TTC>TTT	p.F184F		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	184	FBA.				protein catabolic process					ovary(1)	1						CCTGCAGGTTCGAGGACAGCC	0.592													T	39690989	C	T	39690989	2	4	193	1	0	0	0	0	0	0	0	1	10213	883	31	1		1	NCCRP1	19	39690989	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	409614	39690989	19437994	1506	106739											
DYRK1B	9149	broad.mit.edu	37	chr19	40321029	40321029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctggccaaaggagcCtttgccaatgagcgagtcaa	10	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40321029C>A	uc002omj.2	-	4	638	c.358G>T	c.(358-360)GGC>TGC	p.G120C	DYRK1B_uc002omi.2_Missense_Mutation_p.G120C|DYRK1B_uc002omk.2_Missense_Mutation_p.G120C|DYRK1B_uc002oml.2_Missense_Mutation_p.G120C	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	120	ATP (By similarity).|Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			CCAAAGGAGCCTTTGCCAATG	0.517													A	40321029	C	A	40321029	3	1	193	1	0	0	0	0	1	0	0	0	4855	681	24	5	1563	5	DYRK1B	19	40321029	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	630040	40321029	18807954	1507	106740											
DYRK1B	9149	broad.mit.edu	37	chr19	40321086	40321086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgctcgccactgcgcaCgatgtagtcatggttgtcgt	12	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40321086C>T	uc002omj.2	-	4	581	c.301G>A	c.(301-303)GTG>ATG	p.V101M	DYRK1B_uc002omi.2_Missense_Mutation_p.V101M|DYRK1B_uc002omk.2_Missense_Mutation_p.V101M|DYRK1B_uc002oml.2_Missense_Mutation_p.V101M	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	101					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			CCACTGCGCACGATGTAGTCA	0.597													T	40321086	C	T	40321086	3	4	193	1	0	0	0	0	1	0	0	0	4855	536	19	1	1620	1	DYRK1B	19	40321086	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	57	40321086	18807897	1508	106741											
DYRK1B	9149	broad.mit.edu	37	chr19	40321350	40321350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtccacagagagcttaCgcagcggggctgaggttgca	16	9	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40321350C>T	uc002omj.2	-	3	417	c.137G>A	c.(136-138)CGT>CAT	p.R46H	DYRK1B_uc002omi.2_Missense_Mutation_p.R46H|DYRK1B_uc002omk.2_Missense_Mutation_p.R46H|DYRK1B_uc002oml.2_Missense_Mutation_p.R46H	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	46					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			AGAGAGCTTACGCAGCGGGGC	0.647													T	40321350	C	T	40321350	3	4	193	1	0	0	0	0	1	0	0	0	4855	536	19	1	1788	1	DYRK1B	19	40321350	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	264	40321350	18807633	1509	106742											
FCGBP	8857	broad.mit.edu	37	chr19	40434017	40434017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccatgaccgactccccGggcctcactgtgaccttctt	8	16	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40434017G>A	uc002omp.3	-	2	260	c.252C>T	c.(250-252)CCC>CCT	p.P84P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	84	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			CCGACTCCCCGGGCCTCACTG	0.562													A	40434017	G	A	40434017	2	1	193	1	0	0	0	0	0	0	0	1	5778	1103	39	1		1	FCGBP	19	40434017	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	112667	40434017	18694966	1510	106743											
ZNF780B	163131	broad.mit.edu	37	chr19	40541678	40541678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccttcccgcattccctgCattcaaagggcttctcaccc	7	17	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40541678C>T	uc002omu.2	-	5	1153	c.1088G>A	c.(1087-1089)TGC>TAC	p.C363Y	ZNF780B_uc002omv.2_Missense_Mutation_p.C215Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	363	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCATTCCCTGCATTCAAAGGG	0.413													T	40541678	C	T	40541678	3	4	193	1	0	0	0	0	1	0	0	0	18150	710	25	2	1417	2	ZNF780B	19	40541678	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	107661	40541678	18587305	1511	106744											
PRX	57716	broad.mit.edu	37	chr19	40900414	40900414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catggttgcccccggatggcGagagctccacgtcgggcagt	15	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:40900414G>A	uc002onr.2	-	7	4114	c.3845C>T	c.(3844-3846)TCG>TTG	p.S1282L	PRX_uc002onq.2_Missense_Mutation_p.S1143L|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1282					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCGGATGGCGAGAGCTCCAC	0.697													A	40900414	G	A	40900414	3	1	193	1	0	0	0	0	1	0	0	0	12642	1059	37	1	544	1	PRX	19	40900414	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	358736	40900414	18228569	1512	106745											
LTBP4	8425	broad.mit.edu	37	chr19	41113279	41113279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcgcagcccaacacGtgatctcagaggccaaaggg	11	14	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:41113279G>A	uc002ooh.1	+	10	1201	c.1201G>A	c.(1201-1203)GTG>ATG	p.V401M	LTBP4_uc002oog.1_Missense_Mutation_p.V364M|LTBP4_uc002ooi.1_Missense_Mutation_p.V334M|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	401					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)			AGCCCAACACGTGATCTCAGA	0.607													A	41113279	G	A	41113279	3	1	193	1	0	0	0	0	1	0	0	0	9076	1145	40	1	1532	1	LTBP4	19	41113279	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	212865	41113279	18015704	1513	106746											
CYP2F1	1572	broad.mit.edu	37	chr19	41627521	41627521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgagcagcccctggggcGaggtcagccaactgagtcca	13	13	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:41627521G>A	uc002opu.1	+	5	699	c.643G>A	c.(643-645)GAG>AAG	p.E215K	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.E215K|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	215					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						CCCCTGGGGCGAGGTCAGCCA	0.587													A	41627521	G	A	41627521	3	1	193	1	0	0	0	0	1	0	0	0	4171	1059	37	1	657	1	CYP2F1	19	41627521	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	514242	41627521	17501462	1514	106747											
EXOSC5	56915	broad.mit.edu	37	chr19	41893465	41893465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggacatcagcagcttcCgttccacgctgtccagggca	11	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:41893465C>T	uc002oqo.2	-	5	592	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	exosome component Rrp46	190					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				0						CAGCAGCTTCCGTTCCACGCT	0.582													T	41893465	C	T	41893465	3	4	193	1	0	0	0	0	1	0	0	0	5318	652	23	1	146	1	EXOSC5	19	41893465	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	265944	41893465	17235518	1515	106748											
CEACAM4	1089	broad.mit.edu	37	chr19	42133320	42133321	+	Frame_Shift_Ins	INS	-	-	G													ctccacggggagcggctgagINSggggggcccatggtctctgc					rs144781407	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42133319_42133320A>AG	uc010xwd.1	-	0	123_124	c.12_13T>CT	c.(10-15)ccctcafs	p.P4fs	CEACAM4_uc002orh.1_Frame_Shift_Ins_p.P4fs	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	4						integral to plasma membrane|membrane fraction		p.S5fs*15(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGAGCGGCTGAGGGGGGGCCCA	0.658													G	42133321	-	G	42133320	7	5	193	1	0	1	1	0	0	0	0	0	3194	987	35	0	750	0	CEACAM4	19	42133320	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	239855	42133320	16995663	1516	106749											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406477	42406479	+	In_Frame_Del	DEL	GAG	GAG	-													aggagagtggctacctcatcGaggagatcggagacgtgctg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42406477_42406479delGAG	uc002orx.2	+	16	1577_1579	c.1468_1470delGAG	c.(1468-1470)GAGdel	p.E491del	ARHGEF1_uc002ory.2_In_Frame_Del_p.E458del|ARHGEF1_uc002orz.2_In_Frame_Del_p.E329del|ARHGEF1_uc002osa.2_In_Frame_Del_p.E506del|ARHGEF1_uc002osb.2_In_Frame_Del_p.E473del|ARHGEF1_uc002osc.2_In_Frame_Del_p.E245del|ARHGEF1_uc002osd.2_In_Frame_Del_p.E150del|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	491	DH.				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			ovary(3)|large_intestine(1)	4		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)		CTACCTCATCGAGGAGATCGGAG	0.64													-	42406479	GAG	-	42406477	7	5	193	1	0	1	0	1	0	0	0	0	893	1059	37	0	1575	0	ARHGEF1	19	42406477	In_Frame_Del	DEL	GAG	TCGA-CG-5726-01A-11D-1600-08	273157	42406477	16722506	1517	106750											
ATP1A3	478	broad.mit.edu	37	chr19	42473602	42473602	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccactgctgcccgtaActgtcttccaggtcattgac	7	16	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42473602A>T	uc002osg.2	-	19	2827	c.2673T>A	c.(2671-2673)AGT>AGA	p.S891R	ATP1A3_uc010xwf.1_Missense_Mutation_p.S902R|ATP1A3_uc010xwg.1_Missense_Mutation_p.S861R|ATP1A3_uc010xwh.1_Missense_Mutation_p.S904R|ATP1A3_uc002osh.2_Missense_Mutation_p.S891R	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	891	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GCTGCCCGTAACTGTCTTCCA	0.587													T	42473602	A	T	42473602	3	4	193	1	0	0	0	0	1	0	0	0	1130	40	2	5	388	5	ATP1A3	19	42473602	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	67125	42473602	16655381	1518	106751											
POU2F2	5452	broad.mit.edu	37	chr19	42596301	42596302	+	Frame_Shift_Ins	INS	-	-	G													ttgtgctgttggtggtggccINSgggggtgggggagtgacaga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:42596301_42596302insG	uc002osp.2	-	13	1386_1387	c.1319_1320insC	c.(1318-1320)CCGfs	p.P440fs	POU2F2_uc002osn.2_Frame_Shift_Ins_p.P424fs|POU2F2_uc002oso.2_Frame_Shift_Ins_p.P213fs|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Frame_Shift_Ins_p.P440fs	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	440					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				TGGTGGTGGCCGGGGGTGGGGG	0.569													G	42596302	-	G	42596301	7	5	193	1	0	1	1	0	0	0	0	0	12272	639	23	0	127	0	POU2F2	19	42596301	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	122699	42596301	16532682	1519	106752											
PSG2	5670	broad.mit.edu	37	chr19	43576030	43576030	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggtgggttagagttcgcGaagcaagacaagtagaggtt	16	6	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:43576030G>A	uc002ovr.2	-	4	879	c.786C>T	c.(784-786)TTC>TTT	p.F262F	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.F262F|PSG2_uc010eiq.1_Silent_p.F262F|PSG2_uc002ovs.3_Silent_p.F262F|PSG2_uc002ovt.3_Silent_p.F262F	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	262	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TAGAGTTCGCGAAGCAAGACA	0.438													A	43576030	G	A	43576030	2	1	193	1	0	0	0	0	0	0	0	1	12655	1049	37	1		1	PSG2	19	43576030	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	979729	43576030	15552953	1520	106753											
OPA3	80207	broad.mit.edu	37	chr19	46087972	46087972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcggcttgctgacctgCcggatgcccaagtatagcag	13	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:46087972C>T	uc002pck.3	-	1	151	c.51G>A	c.(49-51)CGG>CGA	p.R17R	OPA3_uc002pcj.3_Silent_p.R17R|OPA3_uc010xxk.1_Intron	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	17					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TGCTGACCTGCCGGATGCCCA	0.632													T	46087972	C	T	46087972	2	4	193	1	0	0	0	0	0	0	0	1	10872	726	26	2		2	OPA3	19	46087972	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2511942	46087972	13041011	1521	106754											
EML2	24139	broad.mit.edu	37	chr19	46128026	46128026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcccccgtgaccacgtcGccaccttccaaaaaggtcac	8	17	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:46128026G>A	uc002pcn.2	-	9	827	c.792C>T	c.(790-792)GGC>GGT	p.G264G	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G148G|EML2_uc010xxl.1_Silent_p.G411G|EML2_uc010xxm.1_Silent_p.G465G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G264G|EML2_uc010ekj.2_Intron|EML2_uc010ekk.1_RNA	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	264	WD 4.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		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)		TGACCACGTCGCCACCTTCCA	0.527													A	46128026	G	A	46128026	2	1	193	1	0	0	0	0	0	0	0	1	5097	1074	38	1		1	EML2	19	46128026	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	40054	46128026	13000957	1522	106755											
SNRPD2	6633	broad.mit.edu	37	chr19	46190926	46190926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacttcttcttgcccttgCcactcttgggtacctcagtc	8	14	4	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:46190926C>T	uc002pcw.2	-	3	539	c.242G>A	c.(241-243)GGC>GAC	p.G81D	SNRPD2_uc002pcv.2_Missense_Mutation_p.G71D	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	81					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTTGCCCTTGCCACTCTTGGG	0.597													T	46190926	C	T	46190926	3	4	193	1	0	0	0	0	1	0	0	0	14865	739	26	2	118	2	SNRPD2	19	46190926	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	62900	46190926	12938057	1523	106756											
PRKD2	25865	broad.mit.edu	37	chr19	47197162	47197162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctggggcgctgggtgCgtcctgaaggatgacgggca	20	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:47197162C>T	uc002pfh.2	-	11	1888	c.1546G>A	c.(1546-1548)GCA>ACA	p.A516T	PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_Missense_Mutation_p.A36T|PRKD2_uc002pff.2_Missense_Mutation_p.A36T|PRKD2_uc002pfg.2_Missense_Mutation_p.A359T|PRKD2_uc002pfi.2_Missense_Mutation_p.A516T|PRKD2_uc002pfj.2_Missense_Mutation_p.A516T|PRKD2_uc010xye.1_Missense_Mutation_p.A516T|PRKD2_uc002pfk.2_Missense_Mutation_p.A359T	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	516					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			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		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)		GCGCTGGGTGCGTCCTGAAGG	0.682													T	47197162	C	T	47197162	3	4	193	1	0	0	0	0	1	0	0	0	12519	768	27	1	1126	1	PRKD2	19	47197162	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1006236	47197162	11931821	1524	106757											
ZC3H4	23211	broad.mit.edu	37	chr19	47597337	47597337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgctagaagaagcatggcGctgtaatgacaggggaagga	15	6	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:47597337G>A	uc002pga.3	-	4	420	c.382C>T	c.(382-384)CGC>TGC	p.R128C	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	128	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		GAAGCATGGCGCTGTAATGAC	0.567													A	47597337	G	A	47597337	3	1	193	1	0	0	0	0	1	0	0	0	17567	1101	38	1	3577	1	ZC3H4	19	47597337	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	400175	47597337	11531646	1525	106758											
GLTSCR2	29997	broad.mit.edu	37	chr19	48254791	48254791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaccccctggacaggCcgttggttggccaggatgag	14	13	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:48254791C>T	uc002phm.2	+	5	637	c.613C>T	c.(613-615)CCG>TCG	p.P205S	GLTSCR2_uc002phk.2_Missense_Mutation_p.P205S|GLTSCR2_uc002phl.2_Missense_Mutation_p.P205S|GLTSCR2_uc010elj.2_Missense_Mutation_p.P205S|GLTSCR2_uc010elk.1_RNA	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	205				SDNPLDRPLVGQDEFFLE -> LNNPDKPVVWPGCLFPG (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)	1		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCTGGACAGGCCGTTGGTTGG	0.582													T	48254791	C	T	48254791	3	4	193	1	0	0	0	0	1	0	0	0	6475	739	26	2	631	2	GLTSCR2	19	48254791	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	657454	48254791	10874192	1526	106759											
PLA2G4C	8605	broad.mit.edu	37	chr19	48558274	48558274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaaggggatcttgtgGcggcggcagtagtcagtggt	20	5	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:48558274G>A	uc002phx.2	-	15	1688	c.1290C>T	c.(1288-1290)CGC>CGT	p.R430R	PLA2G4C_uc002phv.2_RNA|PLA2G4C_uc002phw.2_Silent_p.R365R|PLA2G4C_uc010elr.2_Silent_p.R430R|PLA2G4C_uc010xzd.1_Silent_p.R440R	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	430	PLA2c.		R -> C.		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		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)		GGATCTTGTGGCGGCGGCAGT	0.572													A	48558274	G	A	48558274	2	1	193	1	0	0	0	0	0	0	0	1	12003	1190	42	2		2	PLA2G4C	19	48558274	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	303483	48558274	10570709	1527	106760											
LIG1	3978	broad.mit.edu	37	chr19	48654587	48654587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaggctttctttcgggGtctcctcttctgacgataga	11	10	4	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:48654587G>T	uc002pia.1	-	7	596	c.476C>A	c.(475-477)ACC>AAC	p.T159N	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.T128N|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	159					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			large_intestine(2)|lung(1)	3		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)	TTCTTTCGGGGTCTCCTCTTC	0.537								NER					T	48654587	G	T	48654587	3	4	193	1	0	0	0	0	1	0	0	0	8781	1261	44	5	2371	5	LIG1	19	48654587	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	96313	48654587	10474396	1528	106761											
GYS1	2997	broad.mit.edu	37	chr19	49494706	49494706	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattcgtcccctgtcaccttCgccttcgtctgcagcaccgt	7	18	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:49494706C>T	uc002plp.2	-	2	394	c.153G>A	c.(151-153)GCG>GCA	p.A51A	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Silent_p.A51A|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	51					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		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)		CTGTCACCTTCGCCTTCGTCT	0.677													T	49494706	C	T	49494706	2	4	193	1	0	0	0	0	0	0	0	1	6912	871	31	1		1	GYS1	19	49494706	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	840119	49494706	9634277	1529	106762											
RUVBL2	10856	broad.mit.edu	37	chr19	49510289	49510289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggcatggcgcaggccCtgggccctgacacgccattc	12	17	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:49510289C>A	uc002plr.1	+	5	293	c.280C>A	c.(280-282)CTG>ATG	p.L94M	RUVBL2_uc002plq.1_Missense_Mutation_p.L49M|RUVBL2_uc010yab.1_Missense_Mutation_p.L94M|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.L49M|RUVBL2_uc010yac.1_Missense_Mutation_p.L49M	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	94					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGCGCAGGCCCTGGGCCCTGA	0.627													A	49510289	C	A	49510289	3	1	193	1	0	0	0	0	1	0	0	0	13753	680	24	5	298	5	RUVBL2	19	49510289	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	15583	49510289	9618694	1530	106763											
DKKL1	27120	broad.mit.edu	37	chr19	49878158	49878158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgcctgcaggccatccGggatggactccgcaagggga	14	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:49878158G>A	uc002pnk.2	+	5	816	c.602G>A	c.(601-603)CGG>CAG	p.R201Q		NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	201					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity				0		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)		CAGGCCATCCGGGATGGACTC	0.647													A	49878158	G	A	49878158	3	1	193	1	0	0	0	0	1	0	0	0	4548	1116	39	1	620	1	DKKL1	19	49878158	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	367869	49878158	9250825	1531	106764											
LRRC4B	94030	broad.mit.edu	37	chr19	51021955	51021955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcgggcgcatgacagcGggcgcagcacgtcgtgttgc	18	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:51021955G>A	uc002pss.2	-	3	1152	c.1015C>T	c.(1015-1017)CGC>TGC	p.R339C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	339	LRRCT.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCATGACAGCGGGCGCAGCAC	0.657													A	51021955	G	A	51021955	3	1	193	1	0	0	0	0	1	0	0	0	9007	1116	39	1	1130	1	LRRC4B	19	51021955	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1143797	51021955	8107028	1532	106765											
SHANK1	50944	broad.mit.edu	37	chr19	51169796	51169796	+	Frame_Shift_Del	DEL	G	G	-													ccccccgccacgcctgccgtGgggggtcctgaacaagcacg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:51169796delG	uc002psx.1	-	22	5440	c.5421delC	c.(5419-5421)CCCfs	p.P1807fs	SHANK1_uc002psw.1_Frame_Shift_Del_p.P1191fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1807					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGCCTGCCGTGGGGGGTCCTG	0.711													-	51169796	G	-	51169796	7	5	193	1	0	1	0	1	0	0	0	0	14264	1335	47	0	1072	0	SHANK1	19	51169796	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	147841	51169796	7959187	1533	106766											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628989	51628989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggatagggacctccgtgtCccccctggacccctccacca	9	19	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:51628989C>T	uc002pvu.2	+	2	624	c.557C>T	c.(556-558)TCC>TTC	p.S186F	SIGLEC9_uc010yct.1_Missense_Mutation_p.S186F	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	186	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCTCCGTGTCCCCCCTGGAC	0.667													T	51628989	C	T	51628989	3	4	193	1	0	0	0	0	1	0	0	0	14315	855	30	4	563	4	SIGLEC9	19	51628989	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	459193	51628989	7499994	1534	106767											
SIGLEC6	946	broad.mit.edu	37	chr19	52033142	52033142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctggaaccagctcaggTgtgcaggggggttgccgtca	16	11	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:52033142T>C	uc002pwy.2	-	5	1010	c.848A>G	c.(847-849)CAC>CGC	p.H283R	SIGLEC6_uc002pwz.2_Missense_Mutation_p.H267R|SIGLEC6_uc002pxa.2_Missense_Mutation_p.H283R|SIGLEC6_uc010ydb.1_Missense_Mutation_p.H220R|SIGLEC6_uc010ydc.1_Missense_Mutation_p.H283R|SIGLEC6_uc010eoz.1_Missense_Mutation_p.H261R|SIGLEC6_uc010epb.1_Missense_Mutation_p.H236R|SIGLEC6_uc010epa.1_Missense_Mutation_p.H272R	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	283	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCAGCTCAGGTGTGCAGGGGG	0.617													C	52033142	T	C	52033142	3	2	193	1	0	0	0	0	1	0	0	0	14312	1696	59	3	529	3	SIGLEC6	19	52033142	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	404153	52033142	7095841	1535	106768											
ZNF616	90317	broad.mit.edu	37	chr19	52618234	52618234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctgagggaaaacaacCgcccaaaggctttgccacat	10	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:52618234C>T	uc002pym.2	-	4	2466	c.2183G>A	c.(2182-2184)CGG>CAG	p.R728Q	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	728	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGAAAACAACCGCCCAAAGGC	0.408													T	52618234	C	T	52618234	3	4	193	1	0	0	0	0	1	0	0	0	18038	652	23	1	166	1	ZNF616	19	52618234	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	585092	52618234	6510749	1536	106769											
ZNF28	7576	broad.mit.edu	37	chr19	53304072	53304072	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaattatagtatgttttgcTaggtatgaattacatgtgaa	9	2	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:53304072T>C	uc002qad.2	-	4	1146	c.1026A>G	c.(1024-1026)CTA>CTG	p.L342L	ZNF28_uc002qac.2_Silent_p.L289L|ZNF28_uc010eqe.2_Silent_p.L288L	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	342	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATGTTTTGCTAGGTATGAAT	0.383													C	53304072	T	C	53304072	2	2	193	1	0	0	0	0	0	0	0	1	17810	1509	53	3		3	ZNF28	19	53304072	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	685838	53304072	5824911	1537	106770											
CACNG7	59284	broad.mit.edu	37	chr19	54416192	54416192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgactactggctgtacaTggaagaaggcacagtgctac	11	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54416192T>C	uc002qcr.1	+	1	122	c.107T>C	c.(106-108)ATG>ACG	p.M36T	CACNG7_uc010era.1_Missense_Mutation_p.M36T	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	36					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			ovary(1)	1	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)		TGGCTGTACATGGAAGAAGGC	0.627													C	54416192	T	C	54416192	3	2	193	1	0	0	0	0	1	0	0	0	2562	1464	51	3	109	3	CACNG7	19	54416192	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1112120	54416192	4712791	1538	106771											
CACNG7	59284	broad.mit.edu	37	chr19	54445306	54445306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggggccggcgtgatgtCcgtgtacctgttcaccaagc	15	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54445306C>T	uc002qcr.1	+	5	602	c.587C>T	c.(586-588)TCC>TTC	p.S196F		NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	196	Helical; (Potential).			GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	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			ovary(1)	1	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)		GGCGTGATGTCCGTGTACCTG	0.677													T	54445306	C	T	54445306	3	4	193	1	0	0	0	0	1	0	0	0	2562	855	30	4	605	4	CACNG7	19	54445306	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	29114	54445306	4683677	1539	106772											
CACNG8	59283	broad.mit.edu	37	chr19	54466537	54466537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgactactggctctacacGcgcgccctcatctgcaacac	7	17	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54466537G>A	uc002qcs.1	+	1	244	c.138G>A	c.(136-138)ACG>ACA	p.T46T		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	47					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				0	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)		GGCTCTACACGCGCGCCCTCA	0.711													A	54466537	G	A	54466537	2	1	193	1	0	0	0	0	0	0	0	1	2563	1074	38	1		1	CACNG8	19	54466537	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	21231	54466537	4662446	1540	106773											
LENG8	114823	broad.mit.edu	37	chr19	54967827	54967827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctaggcacgatctggcGcccaccaagcgcagtcgaaa	10	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:54967827G>A	uc002qfv.1	+	10	1491	c.1347G>A	c.(1345-1347)GCG>GCA	p.A449A	LENG8_uc002qfw.2_Silent_p.A486A			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	449							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACGATCTGGCGCCCACCAAGC	0.662													A	54967827	G	A	54967827	2	1	193	1	0	0	0	0	0	0	0	1	8724	1074	38	1		1	LENG8	19	54967827	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	501290	54967827	4161156	1541	106774											
KIR2DS4	3809	broad.mit.edu	37	chr19	55354348	55354348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaaatagttggccttcAcccactgaaccaagctccaa	5	15	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:55354348A>G	uc002qhm.1	+	6	736	c.690A>G	c.(688-690)TCA>TCG	p.S230S	KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	230	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GTTGGCCTTCACCCACTGAAC	0.493													G	55354348	A	G	55354348	2	3	193	1	0	0	0	0	0	0	0	1	8319	146	6	3		3	KIR2DS4	19	55354348	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	386521	55354348	3774635	1542	106775											
EPS8L1	54869	broad.mit.edu	37	chr19	55597494	55597494	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggagggatatgtgccCtacaacatcctgacacccta	11	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:55597494C>A	uc002qis.3	+	16	1688	c.1584C>A	c.(1582-1584)CCC>CCA	p.P528P	EPS8L1_uc010ess.1_Silent_p.P542P|EPS8L1_uc010yfr.1_Silent_p.P464P|EPS8L1_uc002qiu.2_Silent_p.P401P|EPS8L1_uc002qiv.2_Silent_p.P206P|EPS8L1_uc002qiw.2_Silent_p.P307P	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	528	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GATATGTGCCCTACAACATCC	0.627													A	55597494	C	A	55597494	2	1	193	1	0	0	0	0	0	0	0	1	5195	668	24	5		5	EPS8L1	19	55597494	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	243146	55597494	3531489	1543	106776											
SAPS1	22870	broad.mit.edu	37	chr19	55752707	55752707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaccacgtgcagccgcGtgttgcccagaggcggagcc	15	14	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:55752707G>A	uc002qjw.3	-	9	1303	c.1061C>T	c.(1060-1062)ACG>ATG	p.T354M	SAPS1_uc002qjv.2_Missense_Mutation_p.T416M	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	354	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GTGCAGCCGCGTGTTGCCCAG	0.632													A	55752707	G	A	55752707	3	1	193	1	0	0	0	0	1	0	0	0	13836	1145	40	1	1648	1	SAPS1	19	55752707	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	155213	55752707	3376276	1544	106777											
ZNF580	51157	broad.mit.edu	37	chr19	56153895	56153895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgctgctgccgccgcgGccaccccaccctcggtcctc	10	21	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:56153895G>A	uc002qlo.2	+	2	191	c.21G>A	c.(19-21)CGG>CGA	p.R7R	ZNF580_uc002qlm.2_Silent_p.R20R|ZNF581_uc002qln.2_Intron|ZNF580_uc002qlp.2_Silent_p.R7R|ZNF580_uc010ygd.1_Silent_p.R7R|ZNF581_uc002qlq.2_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	zinc finger protein 580	7	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCGCCGCGGCCACCCCACC	0.627													A	56153895	G	A	56153895	2	1	193	1	0	0	0	0	0	0	0	1	18009	1190	42	2		2	ZNF580	19	56153895	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	401188	56153895	2975088	1545	106778											
NLRP8	126205	broad.mit.edu	37	chr19	56459621	56459621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaatgtgtgttgtagtccGcagagagataaatggtgagt	13	3	0	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:56459621G>A	uc002qmh.2	+	1	424	c.353G>A	c.(352-354)CGC>CAC	p.R118H	NLRP8_uc010etg.2_Missense_Mutation_p.R118H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	118	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTGTAGTCCGCAGAGAGATA	0.473													A	56459621	G	A	56459621	3	1	193	1	0	0	0	0	1	0	0	0	10483	1087	38	1	355	1	NLRP8	19	56459621	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	305726	56459621	2669362	1546	106779											
ZNF71	58491	broad.mit.edu	37	chr19	57133281	57133281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaccagcgcacgcacaCgggcgagaagccgtatgtgt	14	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:57133281C>T	uc002qnm.3	+	3	864	c.626C>T	c.(625-627)ACG>ATG	p.T209M		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	209						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGCACGCACACGGGCGAGAAG	0.652													T	57133281	C	T	57133281	3	4	193	1	0	0	0	0	1	0	0	0	18111	536	19	1	628	1	ZNF71	19	57133281	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	673660	57133281	1995702	1547	106780											
ZIM3	114026	broad.mit.edu	37	chr19	57646387	57646387	+	Frame_Shift_Del	DEL	T	T	-													aggtttttgtccagtatgggTttttttatgcaaactaaggt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:57646386_57646386GT>G	uc002qnz.1	-	4	1705	c.1319_1319AC>C	c.(1318-1320)accfs	p.T440fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	440					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)		TCCAGTATGGGTTTTTTTATG	0.408													-	57646387	T	-	57646387	7	5	193	1	0	1	0	1	0	0	0	0	17682	1725	60	0	104	0	ZIM3	19	57646387	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	513106	57646387	1482596	1548	106781											
ZNF749	388567	broad.mit.edu	37	chr19	57955692	57955692	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtggaaaattctttagTcaccgctccacactcaatat	5	10	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:57955692T>C	uc002qoq.2	+	3	1430	c.1176T>C	c.(1174-1176)AGT>AGC	p.S392S	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	392	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AATTCTTTAGTCACCGCTCCA	0.428													C	57955692	T	C	57955692	2	2	193	1	0	0	0	0	0	0	0	1	18128	1664	58	3		3	ZNF749	19	57955692	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	309305	57955692	1173291	1549	106782											
ZNF551	90233	broad.mit.edu	37	chr19	58199066	58199066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacactggtgataggcctTatgagtgcagtgaatgtgag	13	6	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58199066T>C	uc002qpw.3	+	3	1598	c.1375T>C	c.(1375-1377)TAT>CAT	p.Y459H	ZNF551_uc002qpv.3_Missense_Mutation_p.Y402H|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	475	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TGATAGGCCTTATGAGTGCAG	0.423													C	58199066	T	C	58199066	3	2	193	1	0	0	0	0	1	0	0	0	17980	1754	61	3	1385	3	ZNF551	19	58199066	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	243374	58199066	929917	1550	106783											
ZNF552	79818	broad.mit.edu	37	chr19	58320135	58320135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgaagacagatgactccCctgacacatgcaacttacac	6	14	0	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58320135C>A	uc002qqg.2	-	3	667	c.497G>T	c.(496-498)GGG>GTG	p.G166V	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.G162V	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0259)		AGATGACTCCCCTGACACATG	0.483													A	58320135	C	A	58320135	3	1	193	1	0	0	0	0	1	0	0	0	17981	623	22	5	730	5	ZNF552	19	58320135	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	121069	58320135	808848	1551	106784											
ZNF418	147686	broad.mit.edu	37	chr19	58439171	58439171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggtactgattctggtgCggacggtttgaactatcata	11	8	2	2	rs141826842	by1000genomes	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58439171C>T	uc002qqs.1	-	4	670	c.378G>A	c.(376-378)CCG>CCA	p.P126P	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.P41P	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GATTCTGGTGCGGACGGTTTG	0.453													T	58439171	C	T	58439171	2	4	193	1	0	0	0	0	0	0	0	1	17892	755	27	1		1	ZNF418	19	58439171	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	119036	58439171	689812	1552	106785											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565294	58565294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacccagggatggagccCagggcccagtggcccctcgc	13	18	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58565294C>A	uc002qrc.1	+	6	1349	c.1102C>A	c.(1102-1104)CAG>AAG	p.Q368K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGATGGAGCCCAGGGCCCAGT	0.657													A	58565294	C	A	58565294	3	1	193	1	0	0	0	0	1	0	0	0	18223	595	21	5	1116	5	ZSCAN1	19	58565294	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	126123	58565294	563689	1553	106786											
ZNF8	7554	broad.mit.edu	37	chr19	58797158	58797158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggaccctacccagaggAtcctctaccgtgacgtgatg	11	13	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:58797158A>G	uc002qry.1	+	2	272	c.142A>G	c.(142-144)ATC>GTC	p.I48V	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TACCCAGAGGATCCTCTACCG	0.527													G	58797158	A	G	58797158	3	3	193	1	0	0	0	0	1	0	0	0	18164	333	12	3	148	3	ZNF8	19	58797158	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	231864	58797158	331825	1554	106787											
MZF1	7593	broad.mit.edu	37	chr19	59073814	59073816	+	In_Frame_Del	DEL	GAG	GAG	-													ctctgatgacgcgtgagcttGaggcgctggctgaagcgctg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr19:59073814_59073816delGAG	uc002qto.2	-	6	2389_2391	c.1828_1830delCTC	c.(1828-1830)CTCdel	p.L610del	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_In_Frame_Del_p.L610del	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	610	C2H2-type 9.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		GCGTGAGCTTGAGGCGCTGGCTG	0.67													-	59073816	GAG	-	59073814	7	5	193	1	0	1	0	1	0	0	0	0	10108	1277	45	0	378	0	MZF1	19	59073814	In_Frame_Del	DEL	GAG	TCGA-CG-5726-01A-11D-1600-08	276656	59073814	55169	1555	106788											
SIRPB1	10326	broad.mit.edu	37	chr20	1559137	1559137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgtttctctttgtgagttCtgaaacagttgttacccgtg	10	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:1559137C>T	uc010gai.2	-	2	379	c.280G>A	c.(280-282)GAA>AAA	p.E94K	SIRPB1_uc002wfk.3_Missense_Mutation_p.E94K	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	94	Extracellular (Potential).|Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						TTTGTGAGTTCTGAAACAGTT	0.512													T	1559137	C	T	1559137	3	4	193	1	0	0	0	0	1	0	0	0	14333	922	32	4	932	4	SIRPB1	20	1559137	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08		1559137	61466383	1556	106789											
TGM3	7053	broad.mit.edu	37	chr20	2308960	2308960	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatcagcaccaaggcgGtgggcagcaatgctcgcatg	14	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:2308960G>C	uc002wfx.3	+	9	1379	c.1282G>C	c.(1282-1284)GTG>CTG	p.V428L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	428					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			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CACCAAGGCGGTGGGCAGCAA	0.577													C	2308960	G	C	2308960	3	2	193	1	0	0	0	0	1	0	0	0	15828	1261	44	5	1316	5	TGM3	20	2308960	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	749823	2308960	60716560	1557	106790											
CPXM1	56265	broad.mit.edu	37	chr20	2777036	2777036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagcagaagcaactcccGccccagggcctcgttcccat	10	17	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:2777036G>A	uc002wgu.2	-	9	1163	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	CPXM1_uc010gas.2_Missense_Mutation_p.R367W	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	367					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						AGCAACTCCCGCCCCAGGGCC	0.652													A	2777036	G	A	2777036	3	1	193	1	0	0	0	0	1	0	0	0	3837	1086	38	1	1129	1	CPXM1	20	2777036	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	468076	2777036	60248484	1558	106791											
SLC4A11	83959	broad.mit.edu	37	chr20	3212106	3212106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaattcctcctctgtgCgggtctccaggagcttctgg	11	13	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3212106C>T	uc002wig.2	-	7	914	c.866G>A	c.(865-867)CGC>CAC	p.R289H	SLC4A11_uc010zqe.1_Missense_Mutation_p.R316H|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R273H	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	289	Cytoplasmic (Potential).				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			ovary(1)	1						CTCCTCTGTGCGGGTCTCCAG	0.592													T	3212106	C	T	3212106	3	4	193	1	0	0	0	0	1	0	0	0	14652	768	27	1	1861	1	SLC4A11	20	3212106	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	435070	3212106	59813414	1559	106792											
SLC4A11	83959	broad.mit.edu	37	chr20	3215425	3215425	+	Frame_Shift_Del	DEL	A	A	-													atctcaaggttgacattgacAaaaaaacggatactctcgcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3215425delA	uc002wig.2	-	2	300	c.252delT	c.(250-252)TTTfs	p.F84fs	SLC4A11_uc010zqe.1_Frame_Shift_Del_p.F111fs|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Frame_Shift_Del_p.F68fs	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	84	Cytoplasmic (Potential).				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			ovary(1)	1						TGACATTGACAAAAAAACGGA	0.587													-	3215425	A	-	3215425	7	5	193	1	0	1	0	1	0	0	0	0	14652	127	5	0	2495	0	SLC4A11	20	3215425	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	3319	3215425	59810095	1560	106793											
C20orf194	25943	broad.mit.edu	37	chr20	3329232	3329232	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttctgtgtcaaaattagcGaagaagctagtccactgatg	9	7	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3329232G>A	uc002wii.2	-	8	780	c.729C>T	c.(727-729)TTC>TTT	p.F243F	C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	243											0						CAAAATTAGCGAAGAAGCTAG	0.388													A	3329232	G	A	3329232	2	1	193	1	0	0	0	0	0	0	0	1	2099	1049	37	1		1	C20orf194	20	3329232	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	113807	3329232	59696288	1561	106794											
CDC25B	994	broad.mit.edu	37	chr20	3782594	3782594	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcatgtacagcaagtgCcagcggctcttccgctctcc	9	16	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:3782594C>A	uc002wjn.2	+	10	1723	c.945C>A	c.(943-945)TGC>TGA	p.C315*	CDC25B_uc010zqk.1_Nonsense_Mutation_p.C251*|CDC25B_uc010zql.1_Nonsense_Mutation_p.C237*|CDC25B_uc010zqm.1_Nonsense_Mutation_p.C224*|CDC25B_uc002wjl.2_Nonsense_Mutation_p.C203*|CDC25B_uc002wjm.2_Nonsense_Mutation_p.C203*|CDC25B_uc002wjo.2_Nonsense_Mutation_p.C301*|CDC25B_uc002wjp.2_Nonsense_Mutation_p.C274*|CDC25B_uc002wjq.2_Nonsense_Mutation_p.C115*|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	315					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			lung(3)|ovary(2)	5						ACAGCAAGTGCCAGCGGCTCT	0.637													A	3782594	C	A	3782594	4	1	193	1	0	0	0	0	0	1	0	0	3063	747	26	5	983	5	CDC25B	20	3782594	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	453362	3782594	59242926	1562	106795											
CHGB	1114	broad.mit.edu	37	chr20	5903916	5903916	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatacagggctccaagacctCagagtgaggagagttgggat	14	7	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:5903916C>T	uc002wmg.2	+	4	1432	c.1126C>T	c.(1126-1128)CAG>TAG	p.Q376*	CHGB_uc010zqz.1_Nonsense_Mutation_p.Q59*	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	376						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						TCCAAGACCTCAGAGTGAGGA	0.512													T	5903916	C	T	5903916	4	4	193	1	0	0	0	0	0	1	0	0	3339	827	29	4	1140	4	CHGB	20	5903916	Nonsense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2121322	5903916	57121604	1563	106796											
PLCB1	23236	broad.mit.edu	37	chr20	8755367	8755367	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagaacatattaaactgGtgagcctgagaaacatgatt	10	6	0	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:8755367G>A	uc002wnb.2	+	27	3114	c.3111_splice	c.e27+1	p.L1037_splice	PLCB1_uc010zrb.1_Splice_Site_p.L936_splice|PLCB1_uc002wna.2_Splice_Site_p.L1037_splice|PLCB1_uc002wnc.1_Splice_Site_p.L936_splice|PLCB1_uc002wnd.1_Splice_Site_p.L614_splice	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1						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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TATTAAACTGGTGAGCCTGAG	0.388													A	8755367	G	A	8755367	5	1	193	1	0	0	0	0	0	0	1	0	12027	1275	44	4	3218	4	PLCB1	20	8755367	Splice_Site	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2851451	8755367	54270153	1564	106797											
ISM1	140862	broad.mit.edu	37	chr20	13279916	13279916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggcaagggggcgggcaCgcccaacctcatcagcaccg	15	15	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:13279916C>T	uc010gce.1	+	6	1211	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	402	AMOP.					extracellular region					0						GGGGCGGGCACGCCCAACCTC	0.622													T	13279916	C	T	13279916	3	4	193	1	0	0	0	0	1	0	0	0	7860	536	19	1	1227	1	ISM1	20	13279916	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4524549	13279916	49745604	1565	106798											
MACROD2	140733	broad.mit.edu	37	chr20	15948247	15948247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgaagtgacagatcaTtctgtgcgtgaccaagatca	13	8	3	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:15948247T>C	uc002wou.2	+	13	1221	c.957T>C	c.(955-957)CAT>CAC	p.H319H	MACROD2_uc002wot.2_Silent_p.H319H|MACROD2_uc002woz.2_Silent_p.H84H|MACROD2_uc002wpb.2_Silent_p.H84H	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	319	Glu-rich.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGACAGATCATTCTGTGCGTG	0.343													C	15948247	T	C	15948247	2	2	193	1	0	0	0	0	0	0	0	1	9146	1490	52	3		3	MACROD2	20	15948247	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2668331	15948247	47077273	1566	106799											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143418	18143418	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactgattgtcagacaagcGaaaagggataggggattacc	12	6	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:18143418G>A	uc002wqj.2	+	7	2122	c.1500G>A	c.(1498-1500)GCG>GCA	p.A500A	CSRP2BP_uc002wqk.2_Silent_p.A372A|CSRP2BP_uc010zru.1_Silent_p.A371A	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	500					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						TCAGACAAGCGAAAAGGGATA	0.468													A	18143418	G	A	18143418	2	1	193	1	0	0	0	0	0	0	0	1	3968	1045	37	1		1	CSRP2BP	20	18143418	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2195171	18143418	44882102	1567	106800											
SLC24A3	57419	broad.mit.edu	37	chr20	19646521	19646521	+	Frame_Shift_Del	DEL	A	A	-													ttcacagtttatttatgatgAaaaagtttcctggtaagtac							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:19646521delA	uc002wrl.2	+	8	898	c.701delA	c.(700-702)GAAfs	p.E234fs		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	234	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						ATTTATGATGAAAAAGTTTCC	0.279													-	19646521	A	-	19646521	7	5	193	1	0	1	0	1	0	0	0	0	14467	246	9	0	731	0	SLC24A3	20	19646521	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	1503103	19646521	43378999	1568	106801											
GZF1	64412	broad.mit.edu	37	chr20	23346237	23346237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgagggcggcggcgagcGgcaccgctgcggccagtgcg	20	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:23346237G>A	uc010gdb.2	+	3	1391	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	GZF1_uc002wsy.2_Missense_Mutation_p.R406Q|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.R406Q	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	406					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGCGGCGAGCGGCACCGCTGC	0.677													A	23346237	G	A	23346237	3	1	193	1	0	0	0	0	1	0	0	0	6914	1116	39	1	1219	1	GZF1	20	23346237	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3699716	23346237	39679283	1569	106802											
ABHD12	26090	broad.mit.edu	37	chr20	25300924	25300924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggtctttgccttgggcGttcttccaccagactgcagg	11	12	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:25300924G>A	uc002wus.1	-	4	591	c.453C>T	c.(451-453)AAC>AAT	p.N151N	ABHD12_uc002wuq.2_Silent_p.N151N|ABHD12_uc002wur.2_Silent_p.N151N|ABHD12_uc002wut.1_Silent_p.N151N|ABHD12_uc002wuu.1_Intron	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12 isoform a	151	Extracellular (Potential).					integral to membrane	acylglycerol lipase activity			skin(1)	1						TGCCTTGGGCGTTCTTCCACC	0.582													A	25300924	G	A	25300924	2	1	193	1	0	0	0	0	0	0	0	1	76	1136	40	1		1	ABHD12	20	25300924	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1954687	25300924	37724596	1570	106803											
NINL	22981	broad.mit.edu	37	chr20	25456719	25456719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgtttctccagagcccGgacgacgtcttccagatgta	9	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:25456719G>A	uc002wux.1	-	17	3282	c.3208C>T	c.(3208-3210)CGG>TGG	p.R1070W	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1070	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCCAGAGCCCGGACGACGTCT	0.463													A	25456719	G	A	25456719	3	1	193	1	0	0	0	0	1	0	0	0	10420	1115	39	1	972	1	NINL	20	25456719	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	155795	25456719	37568801	1571	106804											
FOXS1	2307	broad.mit.edu	37	chr20	30432967	30432967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccacggcgtgccttggCggggccccgggtgccctcag	18	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:30432967C>T	uc002wwt.1	-	1	454	c.379G>A	c.(379-381)GCC>ACC	p.A127T		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	127					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|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 activator activity|transcription factor binding			ovary(1)	1						CGTGCCTTGGCGGGGCCCCGG	0.701													T	30432967	C	T	30432967	3	4	193	1	0	0	0	0	1	0	0	0	6035	768	27	1	617	1	FOXS1	20	30432967	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4976248	30432967	32592553	1572	106805											
C20orf186	149954	broad.mit.edu	37	chr20	31671314	31671314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagctggggggcaaataccGatatggtgagatccttgagt	14	7	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:31671314G>A	uc010zue.1	+	3	326	c.311G>A	c.(310-312)CGA>CAA	p.R104Q		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	104						cytoplasm|extracellular region	lipid binding				0						GGCAAATACCGATATGGTGAG	0.537													A	31671314	G	A	31671314	3	1	193	1	0	0	0	0	1	0	0	0	2098	1058	37	1	321	1	C20orf186	20	31671314	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1238347	31671314	31354206	1573	106806											
ZNF341	84905	broad.mit.edu	37	chr20	32336863	32336863	+	Frame_Shift_Del	DEL	C	C	-													gaccagcccatgccccagggCcccccacctgtgcaggtaag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:32336862_32336862GC>G	uc002wzy.3	+	3	493	c.473_473GC>G	c.(472-474)ggcfs	p.G158fs	ZNF341_uc002wzx.3_Frame_Shift_Del_p.G158fs|ZNF341_uc010geq.3_Frame_Shift_Del_p.G68fs|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	158	Pro-rich.				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						ATGCCCCAGGGCCCCCCACCT	0.537													-	32336863	C	-	32336863	7	5	193	1	0	1	0	1	0	0	0	0	17854	726	26	0	488	0	ZNF341	20	32336863	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	665549	32336863	30688657	1574	106807											
ITCH	83737	broad.mit.edu	37	chr20	33068914	33068914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttggaaatgtacttctccGttgacaaagaaattctaggt	8	6	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:33068914G>A	uc010geu.1	+	21	2311	c.2119G>A	c.(2119-2121)GTT>ATT	p.V707I	ITCH_uc002xak.2_Missense_Mutation_p.V666I|ITCH_uc010zuj.1_Missense_Mutation_p.V556I	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	707	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						GTACTTCTCCGTTGACAAAGA	0.318													A	33068914	G	A	33068914	3	1	193	1	0	0	0	0	1	0	0	0	7868	1145	40	1	2066	1	ITCH	20	33068914	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	732051	33068914	29956606	1575	106808											
NCOA6	23054	broad.mit.edu	37	chr20	33330511	33330511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggaatttacagggggTtgctggggagttgcaccttg	18	6	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:33330511T>C	uc002xav.2	-	12	6120	c.3549A>G	c.(3547-3549)CAA>CAG	p.Q1183Q	NCOA6_uc002xaw.2_Silent_p.Q1183Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1183	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			ovary(3)|breast(3)|central_nervous_system(1)	7						TTACAGGGGGTTGCTGGGGAG	0.547													C	33330511	T	C	33330511	2	2	193	1	0	0	0	0	0	0	0	1	10233	1722	60	3		3	NCOA6	20	33330511	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	261597	33330511	29695009	1576	106809											
CEP250	11190	broad.mit.edu	37	chr20	34059927	34059927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctcttagtaggaatgCgcaagaggagaagttgtctt	12	6	2	2	rs116166982	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:34059927C>T	uc002xcm.2	+	12	1672	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	334	Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGTAGGAATGCGCAAGAGGAG	0.458													T	34059927	C	T	34059927	3	4	193	1	0	0	0	0	1	0	0	0	3252	768	27	1	1031	1	CEP250	20	34059927	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	729416	34059927	28965593	1577	106810											
SPAG4	6676	broad.mit.edu	37	chr20	34207646	34207646	+	Frame_Shift_Del	DEL	C	C	-													caccggaggagccaacagcgCcccccgcgatttcgcggtct							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:34207645_34207645GC>G	uc002xdb.1	+	9	1171	c.1054_1054GC>G	c.(1054-1056)gccfs	p.A352fs	SPAG4_uc010zvi.1_Frame_Shift_Del_p.A275fs	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	352	SUN.				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)			AGCCAACAGCGCCCCCCGCGA	0.627													-	34207646	C	-	34207646	7	5	193	1	0	1	0	1	0	0	0	0	14980	739	26	0	1093	0	SPAG4	20	34207646	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	147719	34207646	28817874	1578	106811											
C20orf132	140699	broad.mit.edu	37	chr20	35742484	35742485	+	Frame_Shift_Ins	INS	-	-	T													tatactcttcttatctgggtINStttttacagactttatggcg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:35742483_35742484G>GT	uc010zvu.2	-	20	2691_2692	c.2600_2601C>AC	c.(2599-2601)aacfs	p.N867fs	C20orf132_uc002xgk.3_Frame_Shift_Ins_p.N499fs	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TCTTATCTGGGTTTTTTACAGA	0.46													T	35742485	-	T	35742484	7	5	193	1	0	1	1	0	0	0	0	0	2086	1725	60	0	548	0	C20orf132	20	35742484	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1534838	35742484	27283036	1579	106812											
C20orf132	140699	broad.mit.edu	37	chr20	35783525	35783525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatgctggccgtggcccGttcccgctcatggtctttga	12	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:35783525G>A	uc010zvu.1	-	11	1136	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.R349W|C20orf132_uc002xgn.2_Intron	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		Myeloproliferative disorder(115;0.00878)				GCCGTGGCCCGTTCCCGCTCA	0.502													A	35783525	G	A	35783525	3	1	193	1	0	0	0	0	1	0	0	0	2086	1144	40	1	2189	1	C20orf132	20	35783525	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	41041	35783525	27241995	1580	106813											
CHD6	84181	broad.mit.edu	37	chr20	40122502	40122502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggcaaatacccacctccCctgtttctgcatccttggtg	8	14	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:40122502C>A	uc002xka.1	-	9	1353	c.1175G>T	c.(1174-1176)GGG>GTG	p.G392V	CHD6_uc002xkd.2_Missense_Mutation_p.G370V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	392	Chromo 2.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				ACCCACCTCCCCTGTTTCTGC	0.458													A	40122502	C	A	40122502	3	1	193	1	0	0	0	0	1	0	0	0	3329	623	22	5	7088	5	CHD6	20	40122502	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	4338977	40122502	22903018	1581	106814											
CHD6	84181	broad.mit.edu	37	chr20	40143482	40143482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggactcctcaggactccGcagagatgggttcgtcaggc	14	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:40143482G>A	uc002xka.1	-	4	842	c.664C>T	c.(664-666)CGG>TGG	p.R222W	CHD6_uc002xkd.2_Missense_Mutation_p.R200W|CHD6_uc002xkc.2_Missense_Mutation_p.R257W	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	222					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCAGGACTCCGCAGAGATGGG	0.537													A	40143482	G	A	40143482	3	1	193	1	0	0	0	0	1	0	0	0	3329	1086	38	1	7619	1	CHD6	20	40143482	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	20980	40143482	22882038	1582	106815											
PTPRT	11122	broad.mit.edu	37	chr20	41408874	41408874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttactgcatggatgagcaagGacccggacctcgtccacggc	12	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:41408874G>A	uc002xkg.2	-	4	736	c.552C>T	c.(550-552)GTC>GTT	p.V184V	PTPRT_uc010ggj.2_Silent_p.V184V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	184	Extracellular (Potential).|MAM.				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATGAGCAAGGACCCGGACCT	0.517													A	41408874	G	A	41408874	2	1	193	1	0	0	0	0	0	0	0	1	12812	1161	41	4		4	PTPRT	20	41408874	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1265392	41408874	21616646	1583	106816											
STK4	6789	broad.mit.edu	37	chr20	43703810	43703810	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaagagacggcaacaaaActtctgagcaaggccaggct	11	9	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:43703810A>C	uc002xnb.2	+	11	1547	c.1457A>C	c.(1456-1458)AAC>ACC	p.N486T	STK4_uc010ggx.2_3'UTR|STK4_uc010ggy.2_Missense_Mutation_p.N431T	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	486					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			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CGGCAACAAAACTTCTGAGCA	0.552													C	43703810	A	C	43703810	3	2	193	1	0	0	0	0	1	0	0	0	15305	43	2	5	1499	5	STK4	20	43703810	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	2294936	43703810	19321710	1584	106817											
PIGT	51604	broad.mit.edu	37	chr20	44045332	44045335	+	Frame_Shift_Del	DEL	TGAG	TGAG	-													tggttccaagacactgtcacTgagtgagtgcacaccttggg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:44045331_44045334CTGAG>C	uc002xoh.2	+	1	452_455	c.362_365CTGAG>C	c.(361-366)actgatfs	p.T121fs	PIGT_uc010ghb.2_Intron|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Intron|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.T121fs|PIGT_uc010ghf.2_Intron|PIGT_uc010zwz.2_Intron|PIGT_uc010zww.2_Intron|PIGT_uc010zwy.2_Intron|PIGT_uc002xoj.2_Frame_Shift_Del_p.T121fs|PIGT_uc010zwu.2_Intron|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Intron|PIGT_uc010zwx.2_5'UTR|PIGT_uc010zxa.2_5'UTR|PIGT_uc002xol.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	121					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GACACTGTCACTGAGTGAGTGCAC	0.583													-	44045335	TGAG	-	44045332	7	5	193	1	0	1	0	1	0	0	0	0	11899	1567	55	0	369	0	PIGT	20	44045332	Frame_Shift_Del	DEL	TGAG	TCGA-CG-5726-01A-11D-1600-08	341522	44045332	18980188	1585	106818											
PIGT	51604	broad.mit.edu	37	chr20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-													gatatttctttacacagaggCccccccagtgcccttcctgc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:44050025_44050025GC>G	uc002xoh.2	+	8	1126	c.1036_1036GC>G	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Del_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Del_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Del_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Del_p.A22fs	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	346					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	p.A346A(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGT	0.572													-	44050026	C	-	44050026	7	5	193	1	0	1	0	1	0	0	0	0	11899	739	26	0	1071	0	PIGT	20	44050026	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	4694	44050026	18975494	1586	106819											
ZNFX1	57169	broad.mit.edu	37	chr20	47865238	47865238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgggcaaggatgcccGcagtccaagatagtgccaca	13	12	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:47865238G>A	uc002xui.2	-	14	4570	c.4323C>T	c.(4321-4323)TGC>TGT	p.C1441C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1441	NF-X1-type 4.						metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGATGCCCGCAGTCCAAGA	0.557													A	47865238	G	A	47865238	2	1	193	1	0	0	0	0	0	0	0	1	18202	1079	38	1		1	ZNFX1	20	47865238	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3815212	47865238	15160282	1587	106820											
ADNP	23394	broad.mit.edu	37	chr20	49508350	49508350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcagatggagaagcaccGtctttccactcaacaacatc	6	14	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:49508350G>A	uc002xvt.1	-	5	3246	c.2901C>T	c.(2899-2901)GAC>GAT	p.D967D	ADNP_uc002xvu.1_Silent_p.D967D	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	967						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GAGAAGCACCGTCTTTCCACT	0.453													A	49508350	G	A	49508350	2	1	193	1	0	0	0	0	0	0	0	1	323	1136	40	1		1	ADNP	20	49508350	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1643112	49508350	13517170	1588	106821											
ADNP	23394	broad.mit.edu	37	chr20	49510942	49510943	+	Frame_Shift_Ins	INS	-	-	T													ggcaattaaggagaatcctaINSttttcaaagtcttcactatg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:49510942_49510943insT	uc002xvt.1	-	5	653_654	c.308_309insA	c.(307-309)AATfs	p.N103fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.N103fs	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GGAGAATCCTATTTTCAAAGTC	0.416													T	49510943	-	T	49510942	7	5	193	1	0	1	1	0	0	0	0	0	323	446	16	0	3003	0	ADNP	20	49510942	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	2592	49510942	13514578	1589	106822	516	2									
ADNP	23394	broad.mit.edu	37	chr20	49510943	49510944	+	Frame_Shift_Ins	INS	-	-	T													gcaattaaggagaatcctatINStttcaaagtcttcactatgg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:49510942_49510943A>AT	uc002xvt.1	-	4	653_654	c.308_309T>AT	c.(307-309)aatfs	p.N103fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.N103fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E102Q(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGAGAATCCTATTTTCAAAGTC	0.416													T	49510944	-	T	49510943	7	5	193	1	0	1	1	0	0	0	0	0	323	1493	52	0	3004	0	ADNP	20	49510943	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	1	49510943	13514577	1590	106823	516	2									
ATP9A	10079	broad.mit.edu	37	chr20	50245609	50245609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttctccagttgattcAtcctagagagggaggccgga	12	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:50245609A>G	uc002xwg.1	-	16	1671	c.1671T>C	c.(1669-1671)GAT>GAC	p.D557D	ATP9A_uc010gih.1_Silent_p.D421D|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	557	Cytoplasmic (Potential).				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			ovary(4)	4						CAGTTGATTCATCCTAGAGAG	0.483													G	50245609	A	G	50245609	2	3	193	1	0	0	0	0	0	0	0	1	1198	214	8	3		3	ATP9A	20	50245609	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	734666	50245609	12779911	1591	106824											
ZFP64	55734	broad.mit.edu	37	chr20	50768713	50768713	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatggagtcggcgggacagAgcaaagctggatgggctgcc	18	8	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:50768713A>T	uc002xwl.2	-	6	2367	c.2018T>A	c.(2017-2019)CTC>CAC	p.L673H	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.L671H|ZFP64_uc002xwn.2_Missense_Mutation_p.L619H	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGCGGGACAGAGCAAAGCTGG	0.488													T	50768713	A	T	50768713	3	4	193	1	0	0	0	0	1	0	0	0	17649	304	11	5	1222	5	ZFP64	20	50768713	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	523104	50768713	12256807	1592	106825											
ZNF217	7764	broad.mit.edu	37	chr20	52188288	52188288	+	Frame_Shift_Del	DEL	T	T	-													cccctaattagtgaatcaagTttttttgtcatttggtcgat							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:52188287_52188287GT>G	uc002xwq.4	-	3	3485	c.3143_3143AC>C	c.(3142-3144)actfs	p.T1048fs		NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	1048					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)			AGTGAATCAAGTTTTTTTGTC	0.418													-	52188288	T	-	52188288	7	5	193	1	0	1	0	1	0	0	0	0	17769	1725	60	0	8	0	ZNF217	20	52188288	Frame_Shift_Del	DEL	T	TCGA-CG-5726-01A-11D-1600-08	1419575	52188288	10837232	1593	106826											
CSTF1	1477	broad.mit.edu	37	chr20	54972482	54972482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctactgggtctgctgatgCttcgataaagatacttgaca	10	8	1	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:54972482C>T	uc002xxl.1	+	3	589	c.389C>T	c.(388-390)GCT>GTT	p.A130V	CSTF1_uc002xxm.1_Missense_Mutation_p.A130V|CSTF1_uc002xxn.1_Missense_Mutation_p.A130V|CSTF1_uc002xxo.1_Missense_Mutation_p.A73V	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	130	WD 1.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			TCTGCTGATGCTTCGATAAAG	0.413													T	54972482	C	T	54972482	3	4	193	1	0	0	0	0	1	0	0	0	3983	797	28	2	395	2	CSTF1	20	54972482	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2784194	54972482	8053038	1594	106827											
GNAS	2778	broad.mit.edu	37	chr20	57485424	57485424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggacccacgcgtgaccCgggccaagtacttcattcga	12	13	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:57485424C>T	uc002xzw.2	+	12	3220	c.2935C>T	c.(2935-2937)CGG>TGG	p.R979W	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R277W|GNAS_uc002xzx.2_Missense_Mutation_p.R277W|GNAS_uc010gjr.2_Missense_Mutation_p.R227W|GNAS_uc002xzy.2_Missense_Mutation_p.R262W|GNAS_uc002yaa.2_Missense_Mutation_p.R322W|GNAS_uc010zzt.1_Missense_Mutation_p.R337W|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R227W|GNAS_uc002yae.2_Missense_Mutation_p.R261W	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	336					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGCGTGACCCGGGCCAAGTA	0.443			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57485424	C	T	57485424	3	4	193	1	0	0	0	0	1	0	0	0	6510	643	23	1	3869	1	GNAS	20	57485424	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2512942	57485424	5540096	1595	106828											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514315	58514315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcggggcctgcgggcccGcgccaccgcgccaccgcctc	13	23	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:58514315G>A	uc002ybb.2	-	1	1038	c.672C>T	c.(670-672)CGC>CGT	p.R224R	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	224	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTGCGGGCCCGCGCCACCGCG	0.692													A	58514315	G	A	58514315	2	1	193	1	0	0	0	0	0	0	0	1	12374	1074	38	1		1	PPP1R3D	20	58514315	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1028891	58514315	4511205	1596	106829											
CDH4	1002	broad.mit.edu	37	chr20	60499487	60499487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggaccgtgagtccctctAcaccaaaaacaacgtctacg	8	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:60499487A>G	uc002ybn.1	+	11	1738	c.1724A>G	c.(1723-1725)TAC>TGC	p.Y575C	CDH4_uc002ybp.1_Missense_Mutation_p.Y501C	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	575	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAGTCCCTCTACACCAAAAAC	0.627													G	60499487	A	G	60499487	3	3	193	1	0	0	0	0	1	0	0	0	3112	391	14	3	1766	3	CDH4	20	60499487	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1985172	60499487	2526033	1597	106830											
CDH4	1002	broad.mit.edu	37	chr20	60511828	60511828	+	Frame_Shift_Del	DEL	C	C	-													ctgacaacgaccccacggcaCccccctatgactccctgctg							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:60511827_60511827AC>A	uc002ybn.2	+	15	2665	c.2577_2577AC>A	c.(2575-2577)gcafs	p.A859fs	CDH4_uc002ybr.2_Frame_Shift_Del_p.A822fs|CDH4_uc002ybp.2_Frame_Shift_Del_p.A785fs	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	859					adherens junction organization|cell junction assembly		calcium ion binding	p.T858K(1)		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)			ACCCCACGGCACCCCCCTATG	0.642													-	60511828	C	-	60511828	7	5	193	1	0	1	0	1	0	0	0	0	3112	507	18	0	2640	0	CDH4	20	60511828	Frame_Shift_Del	DEL	C	TCGA-CG-5726-01A-11D-1600-08	12341	60511828	2513692	1598	106831											
HRH3	11255	broad.mit.edu	37	chr20	60791877	60791877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcccccggacaggtactCccagctcaggatggctggtc	13	15	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:60791877C>T	uc002ycf.2	-	3	820	c.523G>A	c.(523-525)GAG>AAG	p.E175K	HRH3_uc002ycg.2_Missense_Mutation_p.E175K|HRH3_uc002ych.2_Missense_Mutation_p.E175K|HRH3_uc002yci.2_Missense_Mutation_p.E175K	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	175	Helical; Name=4; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GACAGGTACTCCCAGCTCAGG	0.627													T	60791877	C	T	60791877	3	4	193	1	0	0	0	0	1	0	0	0	7357	864	30	4	818	4	HRH3	20	60791877	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	280049	60791877	2233643	1599	106832											
YTHDF1	54915	broad.mit.edu	37	chr20	61833652	61833652	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccttgcgcaccaccTcctcctcctcctggcgcttc	6	22	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:61833652T>A	uc002yeh.2	-	4	1934	c.1640A>T	c.(1639-1641)GAG>GTG	p.E547V	YTHDF1_uc011aaq.1_Missense_Mutation_p.E497V	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										ovary(2)	2						GCGCACCACCTCCTCCTCCTC	0.552													A	61833652	T	A	61833652	3	1	193	1	0	0	0	0	1	0	0	0	17495	1551	54	5	47	5	YTHDF1	20	61833652	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1041775	61833652	1191868	1600	106833											
YTHDF1	54915	broad.mit.edu	37	chr20	61845261	61845261	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaaagtcattgtcatgAactgtatccttctgatgtaa	8	8	4	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:61845261A>C	uc002yeh.2	-	3	381	c.87T>G	c.(85-87)GTT>GTG	p.V29V		NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	29										ovary(2)	2						CATTGTCATGAACTGTATCCT	0.313													C	61845261	A	C	61845261	2	2	193	1	0	0	0	0	0	0	0	1	17495	233	9	5		5	YTHDF1	20	61845261	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	11609	61845261	1180259	1601	106834											
CHRNA4	1137	broad.mit.edu	37	chr20	61981128	61981128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgctgcgggtcttgacCgtggcgctcggggacaccga	17	11	1	1	rs121912283		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:61981128C>T	uc002yes.2	-	5	1813	c.1635G>A	c.(1633-1635)ACG>ACA	p.T545T	CHRNA4_uc002yet.1_Silent_p.T369T|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.T474T|CHRNA4_uc002yev.1_Silent_p.T369T|CHRNA4_uc010gkf.1_Silent_p.T369T	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	545	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGTCTTGACCGTGGCGCTCG	0.682													T	61981128	C	T	61981128	2	4	193	1	0	0	0	0	0	0	0	1	3385	639	23	1		1	CHRNA4	20	61981128	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	135867	61981128	1044392	1602	106835											
GMEB2	26205	broad.mit.edu	37	chr20	62223462	62223462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccaggtccagcatgcCgaagttctgcacgatgttgt	10	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62223462C>A	uc002yfp.1	-	8	1344	c.865G>T	c.(865-867)GGC>TGC	p.G289C	GMEB2_uc002yfo.1_Missense_Mutation_p.G211C|GMEB2_uc002yfq.1_Missense_Mutation_p.G289C	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	289					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	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)			TCCAGCATGCCGAAGTTCTGC	0.597													A	62223462	C	A	62223462	3	1	193	1	0	0	0	0	1	0	0	0	6488	652	23	5	735	5	GMEB2	20	62223462	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	242334	62223462	802058	1603	106836											
RTEL1	51750	broad.mit.edu	37	chr20	62321727	62321729	+	In_Frame_Del	DEL	CTT	CTT	-													gaggccaagtcgcctggcccCttcttctccaccaggaaagc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62321726_62321728CCTT>C	uc021wge.1	+	24	2515_2517	c.2345_2347CCTT>C	c.(2344-2349)cccttc>cCtc	p.F784del	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_In_Frame_Del_p.F784del|RTEL1_uc011abd.2_In_Frame_Del_p.F808del|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_In_Frame_Del_p.F561del|RTEL1_uc002yfx.1_In_Frame_Del_p.F29del	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	784					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)			TCGCCTGGCCCCTTCTTCTCCAC	0.665													-	62321729	CTT	-	62321727	7	5	193	1	0	1	0	1	0	0	0	0	13720	668	24	0	2444	0	RTEL1	20	62321727	In_Frame_Del	DEL	CTT	TCGA-CG-5726-01A-11D-1600-08	98265	62321727	703793	1604	106837											
ZBTB46	140685	broad.mit.edu	37	chr20	62407140	62407140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttactcatgagcgccgcGcgcaggttggccaccgcggt	13	14	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62407140G>A	uc002ygv.1	-	3	1314	c.1113C>T	c.(1111-1113)CGC>CGT	p.R371R	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TGAGCGCCGCGCGCAGGTTGG	0.667													A	62407140	G	A	62407140	2	1	193	1	0	0	0	0	0	0	0	1	17544	1074	38	1		1	ZBTB46	20	62407140	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	85413	62407140	618380	1605	106838											
ZBTB46	140685	broad.mit.edu	37	chr20	62421310	62421310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgattcttccttcggccCgtgggctgccaggcatcacc	10	16	2	0	rs116858325	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62421310C>T	uc002ygv.1	-	2	1002	c.801G>A	c.(799-801)ACG>ACA	p.T267T	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCTTCGGCCCGTGGGCTGCC	0.607													T	62421310	C	T	62421310	2	4	193	1	0	0	0	0	0	0	0	1	17544	639	23	1		1	ZBTB46	20	62421310	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	14170	62421310	604210	1606	106839											
DNAJC5	80331	broad.mit.edu	37	chr20	62559804	62559804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacattaaaaagtcctatCggtaagtggacaagtgtggc	11	6	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62559804C>T	uc002yhf.2	+	2	276	c.106C>T	c.(106-108)CGG>TGG	p.R36W	DNAJC5_uc002yhg.1_Missense_Mutation_p.R36W|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	36	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAAGTCCTATCGGTAAGTGGA	0.498													T	62559804	C	T	62559804	3	4	193	1	0	0	0	0	1	0	0	0	4650	898	31	1	108	1	DNAJC5	20	62559804	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	138494	62559804	465716	1607	106840											
MYT1	4661	broad.mit.edu	37	chr20	62871228	62871228	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggccctcatccaaaGtctcgccaatatccgccttc	7	17	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr20:62871228G>C	uc002yii.2	+	22	3573	c.3209G>C	c.(3208-3210)AGT>ACT	p.S1070T	MYT1_uc002yij.2_Missense_Mutation_p.S729T|MYT1_uc002yik.2_Missense_Mutation_p.S36T	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	1070					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTCATCCAAAGTCTCGCCAAT	0.602													C	62871228	G	C	62871228	3	2	193	1	0	0	0	0	1	0	0	0	10106	1029	36	5	3287	5	MYT1	20	62871228	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	311424	62871228	154292	1608	106841											
RBM11	54033	broad.mit.edu	37	chr21	15591970	15591970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctttaaacacccagaAtcggtgtcttatgccatagc	8	11	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:15591970A>C	uc002yjo.3	+	2	225	c.183A>C	c.(181-183)GAA>GAC	p.E61D	RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	61	RRM.						nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AACACCCAGAATCGGTGTCTT	0.403													C	15591970	A	C	15591970	3	2	193	1	0	0	0	0	1	0	0	0	13112	98	4	5	189	5	RBM11	21	15591970	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08		15591970	32537925	1609	106842											
NCAM2	4685	broad.mit.edu	37	chr21	22664432	22664432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctttccagatcggttcGctatgttagcaaacaataac	6	10	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:22664432G>A	uc002yld.1	+	5	739	c.490G>A	c.(490-492)GCT>ACT	p.A164T	NCAM2_uc011acb.1_Missense_Mutation_p.A22T|NCAM2_uc011acc.1_Missense_Mutation_p.A189T	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	164	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		AGATCGGTTCGCTATGTTAGC	0.393													A	22664432	G	A	22664432	3	1	193	1	0	0	0	0	1	0	0	0	10203	1087	38	1	508	1	NCAM2	21	22664432	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	7072462	22664432	25465463	1610	106843											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296534	28296534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggcccgtgacccactgCggctgcgaagtgtgtgatcc	14	13	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:28296534C>T	uc002ymg.2	-	8	3360	c.2631G>A	c.(2629-2631)CCG>CCA	p.P877P		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	877	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGACCCACTGCGGCTGCGAAG	0.522													T	28296534	C	T	28296534	2	4	193	1	0	0	0	0	0	0	0	1	269	755	27	1		1	ADAMTS5	21	28296534	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5632102	28296534	19833361	1611	106844											
RWDD2B	10069	broad.mit.edu	37	chr21	30380870	30380870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaccagggaacatactgGctagcaggtctaactcagca	9	12	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:30380870G>A	uc002yms.2	-	2	227	c.140C>T	c.(139-141)GCC>GTC	p.A47V	RWDD2B_uc002ymt.2_Missense_Mutation_p.A18V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	47	RWD.										0						GAACATACTGGCTAGCAGGTC	0.453													A	30380870	G	A	30380870	3	1	193	1	0	0	0	0	1	0	0	0	13756	1203	42	2	835	2	RWDD2B	21	30380870	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2084336	30380870	17749025	1612	106845											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852411	31852411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattgtacgatgggcggcAgcagccatatccatagcctc	10	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:31852411A>G	uc011acx.1	-	1	226	c.226T>C	c.(226-228)TGC>CGC	p.C76R		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	76	26 X 2 AA repeats of G-[YCGS].					intermediate filament					0						GATGGGCGGCAGCAGCCATAT	0.488													G	31852411	A	G	31852411	3	3	193	1	0	0	0	0	1	0	0	0	8528	188	7	3	48	3	KRTAP19-1	21	31852411	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1471541	31852411	16277484	1613	106846											
SFRS15	57466	broad.mit.edu	37	chr21	33044468	33044468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtggaggcatcgcaaaGccccctggtcctggcggtgg	17	11	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:33044468G>A	uc002ypd.2	-	20	3114	c.2688C>T	c.(2686-2688)GGC>GGT	p.G896G	SFRS15_uc002ype.2_Silent_p.G874G|SFRS15_uc010glu.2_Silent_p.G881G	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	896						nucleus	nucleotide binding|RNA binding				0						GCATCGCAAAGCCCCCTGGTC	0.647													A	33044468	G	A	33044468	2	1	193	1	0	0	0	0	0	0	0	1	14171	958	34	2		2	SFRS15	21	33044468	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1192057	33044468	15085427	1614	106847											
ITSN1	6453	broad.mit.edu	37	chr21	35138206	35138206	+	Frame_Shift_Del	DEL	A	A	-													tctgacattgatcaagatggAaaacttacagcagaggaatt							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:35138206delA	uc002yta.1	+	10	1084	c.816delA	c.(814-816)GGAfs	p.G272fs	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Frame_Shift_Del_p.G272fs|ITSN1_uc010gmg.2_Frame_Shift_Del_p.G235fs|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Frame_Shift_Del_p.G272fs|ITSN1_uc010gmi.2_Frame_Shift_Del_p.G235fs|ITSN1_uc010gmj.2_Frame_Shift_Del_p.G156fs|ITSN1_uc002ysy.2_Frame_Shift_Del_p.G272fs|ITSN1_uc002ysx.2_Frame_Shift_Del_p.G235fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.G272fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.G272fs|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Frame_Shift_Del_p.G235fs|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Frame_Shift_Del_p.G272fs|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Frame_Shift_Del_p.G206fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	272	EF-hand 2.|EH 2.|2 (Potential).				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			ovary(3)|skin(1)	4						ATCAAGATGGAAAACTTACAG	0.383													-	35138206	A	-	35138206	7	5	193	1	0	1	0	1	0	0	0	0	7926	233	9	0	850	0	ITSN1	21	35138206	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	2093738	35138206	12991689	1615	106848											
TTC3	7267	broad.mit.edu	37	chr21	38555103	38555103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacggaattagattggttcCttcaagatttggaaagagaa	11	4	1	4			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:38555103C>T	uc002yvz.2	+	36	4750	c.4645C>T	c.(4645-4647)CTT>TTT	p.L1549F	TTC3_uc002ywa.2_Missense_Mutation_p.L1549F|TTC3_uc002ywb.2_Missense_Mutation_p.L1549F|TTC3_uc010gnf.2_Missense_Mutation_p.L1314F|TTC3_uc002ywc.2_Missense_Mutation_p.L1239F|TTC3_uc002ywd.1_Missense_Mutation_p.L613F	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1549					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AGATTGGTTCCTTCAAGATTT	0.274													T	38555103	C	T	38555103	3	4	193	1	0	0	0	0	1	0	0	0	16694	681	24	4	4783	4	TTC3	21	38555103	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3416897	38555103	9574792	1616	106849											
TRAPPC10	7109	broad.mit.edu	37	chr21	45479047	45479047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgccctggtgcagtacgacGaactggacgccctcttctct	10	15	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:45479047G>A	uc002zea.2	+	6	911	c.742G>A	c.(742-744)GAA>AAA	p.E248K	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.E248K	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	248					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GCAGTACGACGAACTGGACGC	0.498													A	45479047	G	A	45479047	3	1	193	1	0	0	0	0	1	0	0	0	16454	1059	37	1	764	1	TRAPPC10	21	45479047	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6923944	45479047	2650848	1617	106850											
PFKL	5211	broad.mit.edu	37	chr21	45745850	45745850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgtttccagggtggcGctccaaccccctttgaccgg	10	16	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:45745850G>A	uc002zel.2	+	20	2055	c.1996G>A	c.(1996-1998)GCT>ACT	p.A666T	PFKL_uc002zek.2_Missense_Mutation_p.A713T|PFKL_uc002zem.2_Missense_Mutation_p.A253T|PFKL_uc002zen.2_Missense_Mutation_p.A253T	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	666					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				0				Colorectal(79;0.0811)		CCAGGGTGGCGCTCCAACCCC	0.652													A	45745850	G	A	45745850	3	1	193	1	0	0	0	0	1	0	0	0	11764	1087	38	1	2074	1	PFKL	21	45745850	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	266803	45745850	2384045	1618	106851											
POFUT2	23275	broad.mit.edu	37	chr21	46703299	46703299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcctcagcaggcaccTgtagtactcgtgcttgtcct	11	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:46703299T>C	uc002zhc.2	-	3	551	c.526A>G	c.(526-528)AGA>GGA	p.R176G	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R176G|POFUT2_uc011afp.1_Missense_Mutation_p.R176G	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	176					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		AGCAGGCACCTGTAGTACTCG	0.408													C	46703299	T	C	46703299	3	2	193	1	0	0	0	0	1	0	0	0	12184	1594	55	3	930	3	POFUT2	21	46703299	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	957449	46703299	1426596	1619	106852											
PCNT	5116	broad.mit.edu	37	chr21	47808787	47808787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacgcgggcgcaggcctgGccctgtcgacaggtgagtgt	17	11	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:47808787G>A	uc002zji.3	+	18	3702	c.3595G>A	c.(3595-3597)GCC>ACC	p.A1199T	PCNT_uc002zjj.2_Missense_Mutation_p.A1081T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1199					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CGCAGGCCTGGCCCTGTCGAC	0.682													A	47808787	G	A	47808787	3	1	193	1	0	0	0	0	1	0	0	0	11590	1203	42	2	3665	2	PCNT	21	47808787	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1105488	47808787	321108	1620	106853											
DIP2A	23181	broad.mit.edu	37	chr21	47953472	47953472	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggttgggtttctgctgggCagctgtggagtcttcttggc	16	8	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr21:47953472C>A	uc002zjo.2	+	11	1524	c.1341C>A	c.(1339-1341)GGC>GGA	p.G447G	DIP2A_uc011afy.1_Silent_p.G383G|DIP2A_uc011afz.1_Silent_p.G443G|DIP2A_uc002zjl.2_Silent_p.G447G|DIP2A_uc002zjm.2_Silent_p.G447G|DIP2A_uc010gql.2_Silent_p.G404G|DIP2A_uc002zjn.2_Silent_p.G447G|DIP2A_uc002zjp.1_Silent_p.G192G	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	447					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		TTCTGCTGGGCAGCTGTGGAG	0.617													A	47953472	C	A	47953472	2	1	193	1	0	0	0	0	0	0	0	1	4527	697	25	5		5	DIP2A	21	47953472	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	144685	47953472	176423	1621	106854											
TUBA8	51807	broad.mit.edu	37	chr22	18613670	18613670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacctggccaaggtgcagCgggccgtctgcatgctcagc	15	13	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:18613670C>T	uc002znv.1	+	5	1190	c.1117C>T	c.(1117-1119)CGG>TGG	p.R373W	TUBA8_uc002znr.2_Missense_Mutation_p.R307W|TUBA8_uc002znw.1_Missense_Mutation_p.R397W|TUBA8_uc002znx.1_Missense_Mutation_p.R220W	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	373					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CAAGGTGCAGCGGGCCGTCTG	0.637													T	18613670	C	T	18613670	3	4	193	1	0	0	0	0	1	0	0	0	16747	759	27	1	1135	1	TUBA8	22	18613670	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08		18613670	32690896	1622	106855											
HIRA	7290	broad.mit.edu	37	chr22	19398237	19398237	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttattccataaacatAccttgtcctccagttgcgaa	4	11	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:19398237A>G	uc002zpf.1	-	2	320	c.100_splice	c.e2+1	p.G34_splice	HIRA_uc011agx.1_Splice_Site|HIRA_uc010grn.1_Splice_Site_p.G34_splice|HIRA_uc010gro.1_Splice_Site|HIRA_uc010grp.2_Splice_Site	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective						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			ovary(1)	1	Colorectal(54;0.0993)					CCATAAACATACCTTGTCCTC	0.408													G	19398237	A	G	19398237	5	3	193	1	0	0	0	0	0	0	1	0	7120	405	14	3	3047	3	HIRA	22	19398237	Splice_Site	SNP	A	TCGA-CG-5726-01A-11D-1600-08	784567	19398237	31906329	1623	106856											
GNB1L	54584	broad.mit.edu	37	chr22	19808240	19808240	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagatgtgtaccaggccactCtgagacctgtttcagacaag	10	11	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:19808240C>A	uc002zqe.1	-	3	529	c.135G>T	c.(133-135)CAG>CAT	p.Q45H	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.Q45H	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	45	WD 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CCAGGCCACTCTGAGACCTGT	0.647													A	19808240	C	A	19808240	3	1	193	1	0	0	0	0	1	0	0	0	6516	912	32	5	868	5	GNB1L	22	19808240	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	410003	19808240	31496326	1624	106857											
KLHL22	84861	broad.mit.edu	37	chr22	20819222	20819222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatacgaagttgttgagcacCgcgatgccctggttggacat	12	9	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:20819222C>T	uc002zsl.1	-	4	1144	c.1035G>A	c.(1033-1035)GCG>GCA	p.A345A	KLHL22_uc011ahr.1_Silent_p.A202A|KLHL22_uc002zsm.1_Silent_p.A345A	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	345	Kelch 1.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			TGTTGAGCACCGCGATGCCCT	0.567													T	20819222	C	T	20819222	2	4	193	1	0	0	0	0	0	0	0	1	8377	639	23	1		1	KLHL22	22	20819222	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1010982	20819222	30485344	1625	106858											
PI4KA	5297	broad.mit.edu	37	chr22	21097019	21097019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggtcagacatctggcCtgtggtgcctgagaaccgaa	13	10	3	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:21097019C>A	uc002zsz.3	-	31	3547	c.3316G>T	c.(3316-3318)GGC>TGC	p.G1106C		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1106					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			GACATCTGGCCTGTGGTGCCT	0.478													A	21097019	C	A	21097019	3	1	193	1	0	0	0	0	1	0	0	0	11873	681	24	5	2918	5	PI4KA	22	21097019	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	277797	21097019	30207547	1626	106859											
LZTR1	8216	broad.mit.edu	37	chr22	21348214	21348216	+	In_Frame_Del	DEL	AGG	AGG	-													tgcatcattctttgtgcagaAggaggagtgcgtgcagggcc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:21348214_21348216delAGG	uc002zto.2	+	13	1458_1460	c.1355_1357delAGG	c.(1354-1359)AAGGAG>AAG	p.E454del	LZTR1_uc002ztn.2_In_Frame_Del_p.E413del|LZTR1_uc011ahy.1_In_Frame_Del_p.E435del|LZTR1_uc010gsr.1_In_Frame_Del_p.E325del|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	454	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			TTTGTGCAGAAGGAGGAGTGCGT	0.645													-	21348216	AGG	-	21348214	7	5	193	1	0	1	0	1	0	0	0	0	9137	86	3	0	1405	0	LZTR1	22	21348214	In_Frame_Del	DEL	AGG	TCGA-CG-5726-01A-11D-1600-08	251195	21348214	29956352	1627	106860											
GNAZ	2781	broad.mit.edu	37	chr22	23438056	23438056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgaagatcatccacagCggcggcttcaacctggaggc	12	12	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:23438056C>T	uc002zwu.1	+	2	711	c.174C>T	c.(172-174)AGC>AGT	p.S58S	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	58						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			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCATCCACAGCGGCGGCTTCA	0.602													T	23438056	C	T	23438056	2	4	193	1	0	0	0	0	0	0	0	1	6514	767	27	1		1	GNAZ	22	23438056	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	2089842	23438056	27866510	1628	106861											
BCR	613	broad.mit.edu	37	chr22	23631789	23631789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactgtccacagcattccGctgaccatcaataaggaagg	9	12	1	2	rs56090728		TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:23631789G>A	uc002zww.2	+	13	3284	c.2688G>A	c.(2686-2688)CCG>CCA	p.P896P	BCR_uc002zwx.2_Silent_p.P896P|BCR_uc011aiy.1_Silent_p.P485P|BCR_uc002zwy.1_Silent_p.P182P	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	896	C2.				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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						ACAGCATTCCGCTGACCATCA	0.577			T	ABL1| FGFR1|JAK2 	CML|ALL|AML						OREG0026390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	23631789	G	A	23631789	2	1	193	1	0	0	0	0	0	0	0	1	1388	1074	38	1		1	BCR	22	23631789	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	193733	23631789	27672777	1629	106862											
CYTSA	23384	broad.mit.edu	37	chr22	24718011	24718011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagtgaggtctaccagCccctcacatcgagcgatgat	11	12	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:24718011C>T	uc002zzw.2	+	5	1370	c.1063C>T	c.(1063-1065)CCC>TCC	p.P355S	CYTSA_uc002zzv.3_Missense_Mutation_p.P355S|CYTSA_uc011ajq.1_Missense_Mutation_p.P355S	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	355					cell cycle|cell division						0						GGTCTACCAGCCCCTCACATC	0.542													T	24718011	C	T	24718011	3	4	193	1	0	0	0	0	1	0	0	0	4209	739	26	2	1073	2	CYTSA	22	24718011	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1086222	24718011	26586555	1630	106863											
ASPHD2	57168	broad.mit.edu	37	chr22	26830109	26830109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgacctgcccaccacGccctatttctcccgggacgc	8	21	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:26830109G>A	uc003acg.2	+	2	925	c.528G>A	c.(526-528)ACG>ACA	p.T176T		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	176	Lumenal (Potential).				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			ovary(1)	1						TGCCCACCACGCCCTATTTCT	0.592													A	26830109	G	A	26830109	2	1	193	1	0	0	0	0	0	0	0	1	1055	1074	38	1		1	ASPHD2	22	26830109	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2112098	26830109	24474457	1631	106864											
MN1	4330	broad.mit.edu	37	chr22	28193239	28193239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagggcgggcgggggcGccttcggtccgtgttccccg	20	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:28193239G>A	uc003adj.2	-	1	4248	c.3293C>T	c.(3292-3294)GCG>GTG	p.A1098V		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1098							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGGCGGGGGCGCCTTCGGTCC	0.711			T	ETV6	AML|meningioma								A	28193239	G	A	28193239	3	1	193	1	0	0	0	0	1	0	0	0	9673	1087	38	1	677	1	MN1	22	28193239	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	1363130	28193239	23111327	1632	106865											
CHEK2	11200	broad.mit.edu	37	chr22	29115460	29115460	+	Frame_Shift_Del	DEL	A	A	-													tgatcatctacagtcagatcAaaaaagacaaaaactaagga							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:29115460delA	uc003adu.1	-	5	678	c.606delT	c.(604-606)TTTfs	p.F202fs	CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Frame_Shift_Del_p.F111fs|CHEK2_uc010gvi.1_Frame_Shift_Del_p.F202fs|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Intron|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Frame_Shift_Del_p.F245fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.F202fs|CHEK2_uc003adw.1_Frame_Shift_Del_p.F202fs|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Frame_Shift_Del_p.F202fs|CHEK2_uc003adz.1_Frame_Shift_Del_p.F6fs	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	202					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)|stomach(1)|ovary(1)|lung(1)	20						CAGTCAGATCAAAAAAGACAA	0.289			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				-	29115460	A	-	29115460	7	5	193	1	0	1	0	1	0	0	0	0	3335	127	5	0	1069	0	CHEK2	22	29115460	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	922221	29115460	22189106	1633	106866											
AP1B1	162	broad.mit.edu	37	chr22	29727880	29727880	+	Frame_Shift_Del	DEL	G	G	-													gagtggcgcgtggacctggaGgggggtggcgggggccaggc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:29727880delG	uc003afj.2	-	18	2519	c.2335delC	c.(2335-2337)CTCfs	p.L779fs	AP1B1_uc003afi.2_Frame_Shift_Del_p.L772fs|AP1B1_uc003afk.2_Frame_Shift_Del_p.L772fs|AP1B1_uc003afl.2_Frame_Shift_Del_p.L752fs|AP1B1_uc003afh.2_5'UTR|AP1B1_uc011ako.1_Frame_Shift_Del_p.L332fs	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	779					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			ovary(1)|skin(1)	2						TGGACCTGGAGGGGGGTGGCG	0.652													-	29727880	G	-	29727880	7	5	193	1	0	1	0	1	0	0	0	0	731	1000	35	0	538	0	AP1B1	22	29727880	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	612420	29727880	21576686	1634	106867											
ASCC2	84164	broad.mit.edu	37	chr22	30185156	30185156	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctgccggccactgctgttGagctgtcatgccggtacctg	14	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:30185156G>T	uc003agr.2	-	20	2225	c.2120C>A	c.(2119-2121)TCA>TAA	p.S707*	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.S707*|ASCC2_uc011akr.1_Nonsense_Mutation_p.S631*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CACTGCTGTTGAGCTGTCATG	0.637													T	30185156	G	T	30185156	4	4	193	1	0	0	0	0	0	1	0	0	1032	1294	45	5	157	5	ASCC2	22	30185156	Nonsense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	457276	30185156	21119410	1635	106868											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951194	30951194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagatggtccgcatgcGctcgttggcatggcgcaggg	17	10	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:30951194G>A	uc003aig.1	-	4	1158	c.1018C>T	c.(1018-1020)CGC>TGC	p.R340C	GAL3ST1_uc003aih.1_Missense_Mutation_p.R340C|GAL3ST1_uc003aii.1_Missense_Mutation_p.R340C|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R340C	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	340	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GTCCGCATGCGCTCGTTGGCA	0.711													A	30951194	G	A	30951194	3	1	193	1	0	0	0	0	1	0	0	0	6197	1087	38	1	257	1	GAL3ST1	22	30951194	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	766038	30951194	20353372	1636	106869											
PES1	23481	broad.mit.edu	37	chr22	30976107	30976107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgcgggagtctgtgaCgtcataggtggccccaatgc	16	9	2	2	rs149717169	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:30976107C>T	uc003aij.1	-	11	1176	c.1102G>A	c.(1102-1104)GTC>ATC	p.V368I	PES1_uc003aik.1_Missense_Mutation_p.V363I|PES1_uc003ail.1_Missense_Mutation_p.V351I|PES1_uc003aim.1_Missense_Mutation_p.V368I|PES1_uc003ain.1_Missense_Mutation_p.V229I|PES1_uc003aio.1_Missense_Mutation_p.V229I	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	368	Sufficient for interaction with MAP1B (By similarity).|BRCT.				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				0						GAGTCTGTGACGTCATAGGTG	0.577													T	30976107	C	T	30976107	3	4	193	1	0	0	0	0	1	0	0	0	11733	536	19	1	684	1	PES1	22	30976107	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	24913	30976107	20328459	1637	106870											
DRG1	4733	broad.mit.edu	37	chr22	31822637	31822637	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctatgtgttaaataagatTgaccaaatctccattgagga	7	6	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:31822637T>C	uc003aku.2	+	7	881	c.750T>C	c.(748-750)ATT>ATC	p.I250I		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	250	GTP (By similarity).				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			central_nervous_system(1)	1						TAAATAAGATTGACCAAATCT	0.398													C	31822637	T	C	31822637	2	2	193	1	0	0	0	0	0	0	0	1	4761	1800	63	3		3	DRG1	22	31822637	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	846530	31822637	19481929	1638	106871											
SFI1	9814	broad.mit.edu	37	chr22	31979888	31979888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggttctggaacctctggCggtctcagattgagcagaaa	12	9	3	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:31979888C>T	uc003ale.2	+	13	1669	c.1276C>T	c.(1276-1278)CGG>TGG	p.R426W	SFI1_uc003ald.1_Missense_Mutation_p.R402W|SFI1_uc003alf.2_Missense_Mutation_p.R395W|SFI1_uc003alg.2_Missense_Mutation_p.R344W|SFI1_uc011alp.1_Missense_Mutation_p.R344W|SFI1_uc011alq.1_Missense_Mutation_p.R371W|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	426	HAT 5.				G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GAACCTCTGGCGGTCTCAGAT	0.498													T	31979888	C	T	31979888	3	4	193	1	0	0	0	0	1	0	0	0	14156	759	27	1	1322	1	SFI1	22	31979888	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	157251	31979888	19324678	1639	106872											
DEPDC5	9681	broad.mit.edu	37	chr22	32302250	32302250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagggcagcagcggcggCggcggaactccaccagctcc	14	16	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:32302250C>T	uc003als.2	+	42	4628	c.4486C>T	c.(4486-4488)CGG>TGG	p.R1496W	DEPDC5_uc011als.1_Missense_Mutation_p.R1427W|DEPDC5_uc011alu.1_Missense_Mutation_p.R1527W|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1518W|DEPDC5_uc003alu.2_Missense_Mutation_p.R945W|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R794W|DEPDC5_uc011alx.1_Missense_Mutation_p.R344W|DEPDC5_uc010gwk.2_Missense_Mutation_p.A531V|DEPDC5_uc011aly.1_Missense_Mutation_p.R344W	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1496					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GCAGCGGCGGCGGCGGAACTC	0.607													T	32302250	C	T	32302250	3	4	193	1	0	0	0	0	1	0	0	0	4442	759	27	1	4736	1	DEPDC5	22	32302250	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	322362	32302250	19002316	1640	106873											
C22orf28	51493	broad.mit.edu	37	chr22	32797740	32797740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtgctcttacttggcaTtcattgggatgacacctttt	9	9	2	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:32797740T>C	uc003amm.2	-	5	622	c.491A>G	c.(490-492)AAT>AGT	p.N164S	C22orf28_uc011ama.1_Intron	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	164					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						TTACTTGGCATTCATTGGGAT	0.473													C	32797740	T	C	32797740	3	2	193	1	0	0	0	0	1	0	0	0	2140	1493	52	3	1058	3	C22orf28	22	32797740	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	495490	32797740	18506826	1641	106874											
APOL3	80833	broad.mit.edu	37	chr22	36537601	36537601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaatggtttgtgtggcttCgtaataattattaagaaggg	11	5	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:36537601C>T	uc003aot.2	-	3	894	c.856G>A	c.(856-858)GAA>AAA	p.E286K	APOL3_uc003aoq.2_Missense_Mutation_p.E215K|APOL3_uc003aor.2_Missense_Mutation_p.E215K|APOL3_uc003aos.2_Missense_Mutation_p.E215K|APOL3_uc003aou.2_Missense_Mutation_p.E86K|APOL3_uc003aov.2_Missense_Mutation_p.E86K	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	286					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						TGTGTGGCTTCGTAATAATTA	0.502													T	36537601	C	T	36537601	3	4	193	1	0	0	0	0	1	0	0	0	807	893	31	1	356	1	APOL3	22	36537601	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3739861	36537601	14766965	1642	106875											
CSF2RB	1439	broad.mit.edu	37	chr22	37319309	37319309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcccgctgcagaccctgCgctgctacaacgactacacc	7	19	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:37319309C>T	uc003aqa.3	+	3	317	c.100C>T	c.(100-102)CGC>TGC	p.R34C	CSF2RB_uc003aqc.3_Missense_Mutation_p.R34C	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	34	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	GCAGACCCTGCGCTGCTACAA	0.607													T	37319309	C	T	37319309	3	4	193	1	0	0	0	0	1	0	0	0	3935	768	27	1	106	1	CSF2RB	22	37319309	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	781708	37319309	13985257	1643	106876											
CSF2RB	1439	broad.mit.edu	37	chr22	37325759	37325759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcagcacctacgtgGcccgagtacggacccgcctg	12	17	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:37325759G>A	uc003aqa.3	+	6	845	c.628G>A	c.(628-630)GCC>ACC	p.A210T	CSF2RB_uc003aqc.3_Missense_Mutation_p.A210T	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	210	Fibronectin type-III 1.|Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	CACCTACGTGGCCCGAGTACG	0.652													A	37325759	G	A	37325759	3	1	193	1	0	0	0	0	1	0	0	0	3935	1203	42	2	646	2	CSF2RB	22	37325759	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	6450	37325759	13978807	1644	106877											
MFNG	4242	broad.mit.edu	37	chr22	37870636	37870636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcaggcggccgcccaGcttgcactcaatgatatagc	13	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:37870636G>A	uc003ass.1	-	6	897	c.727C>T	c.(727-729)CTG>TTG	p.L243L	MFNG_uc011ani.1_Silent_p.L121L|MFNG_uc011anj.1_Silent_p.L229L|MFNG_uc003asr.1_5'Flank	NM_002405	NP_002396	O00587	MFNG_HUMAN	O-fucosylpeptide	243	Lumenal (Potential).				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			lung(1)	1	Melanoma(58;0.0574)					CGGCCGCCCAGCTTGCACTCA	0.612													A	37870636	G	A	37870636	2	1	193	1	0	0	0	0	0	0	0	1	9525	962	34	2		2	MFNG	22	37870636	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	544877	37870636	13433930	1645	106878											
NPTXR	23467	broad.mit.edu	37	chr22	39219123	39219123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaggatcccatgaggctTgatggggtgccaggcagcca	15	9	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:39219123T>C	uc003awk.2	-	4	1397	c.1243A>G	c.(1243-1245)AAG>GAG	p.K415E		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	415	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CCATGAGGCTTGATGGGGTGC	0.502													C	39219123	T	C	39219123	3	2	193	1	0	0	0	0	1	0	0	0	10604	1821	63	3	267	3	NPTXR	22	39219123	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	1348487	39219123	12085443	1646	106879											
PDGFB	5155	broad.mit.edu	37	chr22	39621845	39621845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtcacccgagtttggggCgttttggctgcacaagaaaa	13	8	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:39621845C>T	uc003axf.2	-	6	1598	c.609G>A	c.(607-609)ACG>ACA	p.T203T	PDGFB_uc003axe.2_Silent_p.T188T	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	203					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|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 activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	GAGTTTGGGGCGTTTTGGCTG	0.592			T	COL1A1	DFSP								T	39621845	C	T	39621845	2	4	193	1	0	0	0	0	0	0	0	1	11658	755	27	1		1	PDGFB	22	39621845	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	402722	39621845	11682721	1647	106880											
PDGFB	5155	broad.mit.edu	37	chr22	39631786	39631786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggattccatttacctcCggggtctccgtgcagcaggc	13	13	1	0	rs148252800	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:39631786C>T	uc003axf.2	-	2	1146	c.157G>A	c.(157-159)GGA>AGA	p.G53R	PDGFB_uc003axe.2_Missense_Mutation_p.G38R	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	53					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|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 activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	CATTTACCTCCGGGGTCTCCG	0.612			T	COL1A1	DFSP								T	39631786	C	T	39631786	3	4	193	1	0	0	0	0	1	0	0	0	11658	661	23	1	588	1	PDGFB	22	39631786	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	9941	39631786	11672780	1648	106881											
FAM83F	113828	broad.mit.edu	37	chr22	40417473	40417473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttactcctccactgtggctcGaaagcttatcaaccccaagt	6	14	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:40417473G>A	uc003ayk.1	+	4	1053	c.959G>A	c.(958-960)CGA>CAA	p.R320Q		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	320										breast(1)	1						ACTGTGGCTCGAAAGCTTATC	0.662													A	40417473	G	A	40417473	3	1	193	1	0	0	0	0	1	0	0	0	5638	1058	37	1	973	1	FAM83F	22	40417473	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	785687	40417473	10887093	1649	106882											
A4GALT	53947	broad.mit.edu	37	chr22	43088985	43088985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacgtggcctcgaaccGcgtgccctggctcttcttgt	12	15	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:43088985G>A	uc003bdb.2	-	3	1234	c.973C>T	c.(973-975)CGG>TGG	p.R325W	A4GALT_uc010gzd.2_Missense_Mutation_p.R325W	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	325	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2						GCCTCGAACCGCGTGCCCTGG	0.627													A	43088985	G	A	43088985	3	1	193	1	0	0	0	0	1	0	0	0	6	1086	38	1	92	1	A4GALT	22	43088985	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2671512	43088985	8215581	1650	106883											
ARFGAP3	26286	broad.mit.edu	37	chr22	43219661	43219661	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaagtacataatactcaCgccttttttagcttgatttg	5	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:43219661C>T	uc003bdd.2	-	8	892	c.672_splice	c.e8+1	p.G224_splice	ARFGAP3_uc010gzf.2_Splice_Site_p.G180_splice|ARFGAP3_uc011apu.1_Splice_Site_p.G152_splice	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating						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(1)	1						ATAATACTCACGCCTTTTTTA	0.259													T	43219661	C	T	43219661	5	4	193	1	0	0	0	0	0	0	1	0	851	550	19	1	913	1	ARFGAP3	22	43219661	Splice_Site	SNP	C	TCGA-CG-5726-01A-11D-1600-08	130676	43219661	8084905	1651	106884											
CELSR1	9620	broad.mit.edu	37	chr22	46929835	46929835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggctcaccagcggagccGacgtggcctgcaccaccagc	12	18	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:46929835G>A	uc003bhw.1	-	1	3233	c.3233C>T	c.(3232-3234)TCG>TTG	p.S1078L		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1078	Extracellular (Potential).|Cadherin 8.				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		CAGCGGAGCCGACGTGGCCTG	0.607													A	46929835	G	A	46929835	3	1	193	1	0	0	0	0	1	0	0	0	3221	1059	37	1	5951	1	CELSR1	22	46929835	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	3710174	46929835	4374731	1652	106885											
TBC1D22A	25771	broad.mit.edu	37	chr22	47569223	47569223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctggccgaggcctaccGcctcaagtttgcttttgccg	12	13	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:47569223G>A	uc003bib.2	+	13	1643	c.1508G>A	c.(1507-1509)CGC>CAC	p.R503H	TBC1D22A_uc010haf.2_Missense_Mutation_p.R473H|TBC1D22A_uc003bic.2_Missense_Mutation_p.R444H|TBC1D22A_uc003bie.2_Missense_Mutation_p.R425H|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R456H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	503						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		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)		GAGGCCTACCGCCTCAAGTTT	0.627													A	47569223	G	A	47569223	3	1	193	1	0	0	0	0	1	0	0	0	15608	1087	38	1	1558	1	TBC1D22A	22	47569223	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	639388	47569223	3735343	1653	106886											
MLC1	23209	broad.mit.edu	37	chr22	50521523	50521523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgcttacagagcctgcaGcacagcgcaagtaatccatc	9	13	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:50521523G>T	uc003bjg.1	-	3	530	c.257C>A	c.(256-258)GCT>GAT	p.A86D	MLC1_uc011arl.1_Missense_Mutation_p.A86D|MLC1_uc003bjh.1_Missense_Mutation_p.A86D|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_Missense_Mutation_p.A7D|MLC1_uc011aro.1_Missense_Mutation_p.A86D	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	86	Helical; (Potential).					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		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)		AGAGCCTGCAGCACAGCGCAA	0.577													T	50521523	G	T	50521523	3	4	193	1	0	0	0	0	1	0	0	0	9612	971	34	5	916	5	MLC1	22	50521523	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2952300	50521523	783043	1654	106887											
SBF1	6305	broad.mit.edu	37	chr22	50886875	50886875	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagggagctaggggtgcccTgggaacaggaggttgggact	21	6	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:50886875T>G	uc003blh.2	-	38	5347	c.5152_splice	c.e38-1	p.G1718_splice	SBF1_uc003ble.2_Splice_Site_p.G182_splice|SBF1_uc003blf.2_Splice_Site_p.G194_splice|SBF1_uc011arx.1_Splice_Site_p.G1356_splice	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		AGGGGTGCCCTGGGAACAGGA	0.667													G	50886875	T	G	50886875	5	3	193	1	0	0	0	0	0	0	1	0	13858	1594	55	5	547	5	SBF1	22	50886875	Splice_Site	SNP	T	TCGA-CG-5726-01A-11D-1600-08	365352	50886875	417691	1655	106888											
SHANK3	85358	broad.mit.edu	37	chr22	51115076	51115076	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaagcggcgagtttatgcCcagaacctcatcgatgataa	9	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chr22:51115076C>A	uc003bne.1	+	3	294	c.294C>A	c.(292-294)GCC>GCA	p.A98A		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	98										central_nervous_system(1)	1		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)		GAGTTTATGCCCAGAACCTCA	0.532													A	51115076	C	A	51115076	2	1	193	1	0	0	0	0	0	0	0	1	14266	610	22	5		5	SHANK3	22	51115076	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	228201	51115076	189490	1656	106889											
PLCXD1	55344	broad.mit.edu	37	chrX	209708	209708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcctttgcaggaggtgCcgacactgcggcagctgtgg	16	11	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:209708C>T	uc004cpc.2	+	6	868	c.556C>T	c.(556-558)CCG>TCG	p.P186S	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	186	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		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)				GCAGGAGGTGCCGACACTGCG	0.667													T	209708	C	T	209708	3	4	193	1	0	0	0	0	1	0	0	0	12041	739	26	2	574	2	PLCXD1	23	209708	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08		209708	155060852	1657	106890											
IL3RA	3563	broad.mit.edu	37	chrX	1471336	1471336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcccacatcctggtgCggggcaggagcgcagccttc	13	13	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:1471336C>T	uc004cps.2	+	6	902	c.553C>T	c.(553-555)CGG>TGG	p.R185W	IL3RA_uc011mhd.1_Missense_Mutation_p.R107W	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	185	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity	p.R185P(1)		skin(2)|lung(1)	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)	CATCCTGGTGCGGGGCAGGAG	0.547													T	1471336	C	T	1471336	3	4	193	1	0	0	0	0	1	0	0	0	7695	759	27	1	571	1	IL3RA	23	1471336	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1261628	1471336	153799224	1658	106891											
SFRS17A	8227	broad.mit.edu	37	chrX	1712814	1712814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccatccacctggagggGctgccctgcaagtggttcgc	13	14	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:1712814G>A	uc004cqa.2	+	2	655	c.459G>A	c.(457-459)GGG>GGA	p.G153G	SFRS17A_uc010ncx.1_Silent_p.G153G|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	153	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		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)				ACCTGGAGGGGCTGCCCTGCA	0.647													A	1712814	G	A	1712814	2	1	193	1	0	0	0	0	0	0	0	1	14173	1190	42	2		2	SFRS17A	23	1712814	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	241478	1712814	153557746	1659	106892											
ASMT	438	broad.mit.edu	37	chrX	1748728	1748728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggtccgagggcgagcGgctacagttcatgcaagctc	14	12	1	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:1748728G>A	uc004cqd.2	+	6	603	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	ASMT_uc010ncy.2_Missense_Mutation_p.R153Q|ASMT_uc004cqe.2_Missense_Mutation_p.R153Q	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	153					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		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)				GAGGGCGAGCGGCTACAGTTC	0.567													A	1748728	G	A	1748728	3	1	193	1	0	0	0	0	1	0	0	0	1045	1116	39	1	476	1	ASMT	23	1748728	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	35914	1748728	153521832	1660	106893											
ARSF	416	broad.mit.edu	37	chrX	3030448	3030448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgccctgaaggaacacCaggaaaccatcgtgcctgtg	10	14	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:3030448C>A	uc004cre.1	+	11	1845	c.1624C>A	c.(1624-1626)CAG>AAG	p.Q542K	ARSF_uc004crf.1_Missense_Mutation_p.Q542K	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	542						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		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)				GAAGGAACACCAGGAAACCAT	0.547													A	3030448	C	A	3030448	3	1	193	1	0	0	0	0	1	0	0	0	991	595	21	5	1662	5	ARSF	23	3030448	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1281720	3030448	152240112	1661	106894											
MXRA5	25878	broad.mit.edu	37	chrX	3238600	3238600	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccaactgggtttcttgccTcagggatgttgttatttcca	9	9	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:3238600T>A	uc004crg.3	-	5	5283	c.5126A>T	c.(5125-5127)GAG>GTG	p.E1709V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1709						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTCTTGCCTCAGGGATGTT	0.428													A	3238600	T	A	3238600	3	1	193	1	0	0	0	0	1	0	0	0	10003	1551	54	5	3372	5	MXRA5	23	3238600	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	208152	3238600	152031960	1662	106895											
FRMPD4	9758	broad.mit.edu	37	chrX	12728602	12728602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggctgcttgttgattccAggaggtcgatatttaacatg	11	8	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:12728602A>G	uc004cuz.1	+	14	2061	c.1555A>G	c.(1555-1557)AGG>GGG	p.R519G	FRMPD4_uc011mij.1_Missense_Mutation_p.R511G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	519	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						TGTTGATTCCAGGAGGTCGAT	0.488													G	12728602	A	G	12728602	3	3	193	1	0	0	0	0	1	0	0	0	6059	179	7	3	1609	3	FRMPD4	23	12728602	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	9490002	12728602	142541958	1663	106896											
FIGF	2277	broad.mit.edu	37	chrX	15402024	15402024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctgcaccagctggacGtacaacatcatgaaaacatt	8	12	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:15402024G>A	uc004cwt.1	-	1	554	c.45C>T	c.(43-45)TAC>TAT	p.Y15Y		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	15					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			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CCAGCTGGACGTACAACATCA	0.408													A	15402024	G	A	15402024	2	1	193	1	0	0	0	0	0	0	0	1	5889	1140	40	1		1	FIGF	23	15402024	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2673422	15402024	139868536	1664	106897											
NHS	4810	broad.mit.edu	37	chrX	17739629	17739629	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaaaacccaatacacaaTatcccttccacactggacaa	3	15	0	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:17739629T>C	uc004cxx.2	+	4	1259	c.921T>C	c.(919-921)AAT>AAC	p.N307N	NHS_uc011mix.1_Silent_p.N328N|NHS_uc004cxy.2_Silent_p.N151N|NHS_uc004cxz.2_Silent_p.N130N|NHS_uc004cya.2_Silent_p.N30N	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	307						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CAATACACAATATCCCTTCCA	0.483													C	17739629	T	C	17739629	2	2	193	1	0	0	0	0	0	0	0	1	10411	1403	49	3		3	NHS	23	17739629	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	2337605	17739629	137530931	1665	106898											
GPR64	10149	broad.mit.edu	37	chrX	19013015	19013015	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatattgagacatacataccAttcccgcttgcgtgtactga	7	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:19013015A>T	uc004cyx.2	-	28	3032	c.2868T>A	c.(2866-2868)AAT>AAA	p.N956K	GPR64_uc004cyy.2_Missense_Mutation_p.N953K|GPR64_uc004cyz.2_Missense_Mutation_p.N942K|GPR64_uc004czb.2_Intron|GPR64_uc004czc.2_Missense_Mutation_p.N940K|GPR64_uc004czd.2_Missense_Mutation_p.N932K|GPR64_uc004cze.2_Missense_Mutation_p.N926K|GPR64_uc004czf.2_Missense_Mutation_p.N918K|GPR64_uc004cza.2_Missense_Mutation_p.N934K|GPR64_uc004cyw.2_Intron|GPR64_uc010nfj.2_Missense_Mutation_p.N837K	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	956	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					CATACATACCATTCCCGCTTG	0.368													T	19013015	A	T	19013015	3	4	193	1	0	0	0	0	1	0	0	0	6705	231	8	5	193	5	GPR64	23	19013015	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	1273386	19013015	136257545	1666	106899											
CXorf23	256643	broad.mit.edu	37	chrX	19983736	19983736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcttccactttgggttccTggcaggctctctgctttcat	10	12	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:19983736T>C	uc004czp.2	-	3	700	c.700A>G	c.(700-702)AGG>GGG	p.R234G	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_5'UTR|CXorf23_uc004czo.2_Missense_Mutation_p.R184G	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	234						mitochondrion				lung(1)|skin(1)	2						TTTGGGTTCCTGGCAGGCTCT	0.493													C	19983736	T	C	19983736	3	2	193	1	0	0	0	0	1	0	0	0	4103	1579	55	3	1384	3	CXorf23	23	19983736	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	970721	19983736	135286824	1667	106900											
TAB3	257397	broad.mit.edu	37	chrX	30870901	30870901	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagatcacttaccgtaggGatcgcagtggtgcagctgac	12	10	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:30870901G>A	uc004dcj.2	-	7	2367	c.1704C>T	c.(1702-1704)ATC>ATT	p.I568I	TAB3_uc004dck.2_Silent_p.I568I|TAB3_uc010ngl.2_Silent_p.I568I	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	568					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			ovary(1)	1						TTACCGTAGGGATCGCAGTGG	0.468													A	30870901	G	A	30870901	2	1	193	1	0	0	0	0	0	0	0	1	15494	1164	41	4		4	TAB3	23	30870901	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	10887165	30870901	124399659	1668	106901											
CXorf22	170063	broad.mit.edu	37	chrX	35969947	35969947	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atattcaacaaagaacagatAttgctttaaataatctcacc	3	8	2	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:35969947A>T	uc004ddj.2	+	6	972	c.913A>T	c.(913-915)ATT>TTT	p.I305F	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	305										large_intestine(1)|lung(1)|ovary(1)	3						AAGAACAGATATTGCTTTAAA	0.284													T	35969947	A	T	35969947	3	4	193	1	0	0	0	0	1	0	0	0	4102	449	16	5	935	5	CXorf22	23	35969947	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	5099046	35969947	119300613	1669	106902											
CXorf59	286464	broad.mit.edu	37	chrX	36117910	36117910	+	Frame_Shift_Del	DEL	A	A	-													tgagttcctgtacacctaagAaaaaatgttctattgttata							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:36117909_36117909GA>G	uc004ddk.1	+	6	951	c.765_765GA>G	c.(763-765)aagfs	p.K255fs		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	255						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						GTACACCTAAGAAAAAATGTT	0.313													-	36117910	A	-	36117910	7	5	193	1	0	1	0	1	0	0	0	0	4115	247	9	0	788	0	CXorf59	23	36117910	Frame_Shift_Del	DEL	A	TCGA-CG-5726-01A-11D-1600-08	147963	36117910	119152650	1670	106903											
CASK	8573	broad.mit.edu	37	chrX	41469154	41469159	+	Splice_Site	DEL	TACATC	TACATC	-													gaataataaaaagacagactTacatctagtagtgtgtgaag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:41469154_41469159delTACATC	uc004dfl.3	-	12	1201	c.1155_splice	c.e12+1	p.D385_splice	CASK_uc004dfk.3_Splice_Site_p.D200_splice|CASK_uc004dfm.3_Splice_Site_p.D385_splice|CASK_uc004dfn.3_Splice_Site_p.D379_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein						cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						AAGACAGACTTACATCTAGTAGTGTG	0.277													-	41469159	TACATC	-	41469154	8	5	193	1	0	1	0	1	0	0	1	0	2665	1769	61	0		0	CASK	23	41469154	Splice_Site	DEL	TACATC	TCGA-CG-5726-01A-11D-1600-08	5351244	41469154	113801406	1671	106904											
DUSP21	63904	broad.mit.edu	37	chrX	44703614	44703614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttaccgatgctcgtgactCgcgtctctacgacttttttg	9	11	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:44703614C>T	uc004dgd.2	+	1	366	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	79	Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						GCTCGTGACTCGCGTCTCTAC	0.527													T	44703614	C	T	44703614	3	4	193	1	0	0	0	0	1	0	0	0	4820	893	31	1	238	1	DUSP21	23	44703614	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	3234460	44703614	110566946	1672	106905											
KDM6A	7403	broad.mit.edu	37	chrX	44879953	44879953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatgttcaaagtgaacaCagactatgagtctagtttaa	8	6	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:44879953C>T	uc004dge.3	+	6	917	c.542C>T	c.(541-543)ACA>ATA	p.T181I	KDM6A_uc010nhk.2_Missense_Mutation_p.T181I|KDM6A_uc011mkz.1_Missense_Mutation_p.T181I|KDM6A_uc011mla.1_Missense_Mutation_p.T181I|KDM6A_uc011mlb.1_Missense_Mutation_p.T181I|KDM6A_uc011mlc.1_Intron	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	181	TPR 3.				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(4)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						AAAGTGAACACAGACTATGAG	0.343			D|N|F|S		renal|oesophageal SCC|MM								T	44879953	C	T	44879953	3	4	193	1	0	0	0	0	1	0	0	0	8137	478	17	4	564	4	KDM6A	23	44879953	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	176339	44879953	110390607	1673	106906											
USP11	8237	broad.mit.edu	37	chrX	47104301	47104302	+	Frame_Shift_Ins	INS	-	-	A													atgggaccagcgaccgcacaINSacctcccctgaagaagtcca							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:47104300_47104301C>CA	uc004dhp.3	+	14	2192_2193	c.2192_2193C>CA	c.(2191-2193)acafs	p.T731fs	USP11_uc004dhq.3_Frame_Shift_Ins_p.T457fs	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	731					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						AGCGACCGCACAACCTCCCCTG	0.589													A	47104302	-	A	47104301	7	5	193	1	0	1	1	0	0	0	0	0	17039	117	5	0	2251	0	USP11	23	47104301	Frame_Shift_Ins	INS	-	TCGA-CG-5726-01A-11D-1600-08	2224348	47104301	108166259	1674	106907											
FOXP3	50943	broad.mit.edu	37	chrX	49110450	49110450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgtcaggggcctcccGggggccagaccaggctggga	18	13	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:49110450G>A	uc004dnf.3	-	9	1083	c.895C>T	c.(895-897)CGG>TGG	p.R299W	FOXP3_uc011mnb.1_Missense_Mutation_p.R322W|FOXP3_uc011mnc.1_Missense_Mutation_p.R272W|FOXP3_uc004dne.3_Missense_Mutation_p.R264W|FOXP3_uc010niq.1_Missense_Mutation_p.R264W	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform a	299					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					GGGGCCTCCCGGGGGCCAGAC	0.637													A	49110450	G	A	49110450	3	1	193	1	0	0	0	0	1	0	0	0	6028	1115	39	1	416	1	FOXP3	23	49110450	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	2006149	49110450	106160110	1675	106908											
MSN	4478	broad.mit.edu	37	chrX	64959042	64959042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagaagaatgagcgtgtgCagaagcacctgaaggtatac	13	7	0	5			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:64959042C>A	uc004dwf.2	+	12	1753	c.1555C>A	c.(1555-1557)CAG>AAG	p.Q519K		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	519					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						TGAGCGTGTGCAGAAGCACCT	0.532			T	ALK	ALCL								A	64959042	C	A	64959042	3	1	193	1	0	0	0	0	1	0	0	0	9885	711	25	5	1601	5	MSN	23	64959042	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	15848592	64959042	90311518	1676	106909											
P2RY4	5030	broad.mit.edu	37	chrX	69478799	69478799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcaagggctgatacaggcGacgagccatgagtccatagc	14	10	0	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:69478799G>A	uc004dxz.1	-	1	856	c.676C>T	c.(676-678)CGC>TGC	p.R226C		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	226	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						TGATACAGGCGACGAGCCATG	0.577													A	69478799	G	A	69478799	3	1	193	1	0	0	0	0	1	0	0	0	11353	1058	37	1	425	1	P2RY4	23	69478799	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	4519757	69478799	85791761	1677	106910											
MED12	9968	broad.mit.edu	37	chrX	70340970	70340970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatccggcagtgggatTacaccgagaagctggccatg	14	10	0	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:70340970T>C	uc004dyy.2	+	5	902	c.703T>C	c.(703-705)TAC>CAC	p.Y235H	MED12_uc011mpq.1_Missense_Mutation_p.Y235H|MED12_uc004dyz.2_Missense_Mutation_p.Y235H|MED12_uc004dza.2_Missense_Mutation_p.Y82H	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	235					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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCAGTGGGATTACACCGAGAA	0.562													C	70340970	T	C	70340970	3	2	193	1	0	0	0	0	1	0	0	0	9428	1754	61	3	721	3	MED12	23	70340970	Missense_Mutation	SNP	T	TCGA-CG-5726-01A-11D-1600-08	862171	70340970	84929590	1678	106911											
MAGEE2	139599	broad.mit.edu	37	chrX	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-													gattggcgcctgagggcactGgggggcatcaacgactagca					rs61732441	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:75004754delG	uc004ecj.1	-	1	318	c.133delC	c.(133-135)CAGfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	45										ovary(1)|skin(1)	2						TGAGGGCACTGGGGGGCATCA	0.587													-	75004754	G	-	75004754	7	5	193	1	0	1	0	1	0	0	0	0	9186	1357	47	0	1442	0	MAGEE2	23	75004754	Frame_Shift_Del	DEL	G	TCGA-CG-5726-01A-11D-1600-08	4663784	75004754	80265806	1679	106912											
TAF9B	51616	broad.mit.edu	37	chrX	77387116	77387118	+	In_Frame_Del	DEL	ATC	ATC	-													gactatattccttacataatAtcattgtcatcatcatcttc							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:77387116_77387118delATC	uc004eda.2	-	7	816_818	c.745_747delGAT	c.(745-747)GATdel	p.D249del		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	249	Poly-Asp.				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						CTTACATAATATCATTGTCATCA	0.355													-	77387118	ATC	-	77387116	7	5	193	1	0	1	0	1	0	0	0	0	15533	446	16	0	12	0	TAF9B	23	77387116	In_Frame_Del	DEL	ATC	TCGA-CG-5726-01A-11D-1600-08	2382362	77387116	77883444	1680	106913											
GPR174	84636	broad.mit.edu	37	chrX	78426931	78426931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcagcattgctggctggCtgatcatctgccttgcctgt	10	12	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:78426931C>A	uc004edg.1	+	1	463	c.427C>A	c.(427-429)CTG>ATG	p.L143M		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	143	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						TGCTGGCTGGCTGATCATCTG	0.478										HNSCC(63;0.18)			A	78426931	C	A	78426931	3	1	193	1	0	0	0	0	1	0	0	0	6672	796	28	5	429	5	GPR174	23	78426931	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	1039815	78426931	76843629	1681	106914											
TCEAL1	9338	broad.mit.edu	37	chrX	102884959	102884973	+	In_Frame_Del	DEL	TCGGAGGAGCAGTCC	TCGGAGGAGCAGTCC	-													agtcccccgaggagcagtctTcggaggagcagtcctcggag							TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:102884959_102884973delTCGGAGGAGCAGTCC	uc004eks.2	+	3	289_303	c.115_129delTCGGAGGAGCAGTCC	c.(115-129)TCGGAGGAGCAGTCCdel	p.SEEQS39del	TCEAL1_uc004ekt.2_In_Frame_Del_p.SEEQS39del|TCEAL1_uc004eku.2_In_Frame_Del_p.SEEQS39del	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	48_52	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	p.S39S(1)		ovary(1)	1						GGAGCAGTCTTCGGAGGAGCAGTCCTCGGAGGAGG	0.614													-	102884973	TCGGAGGAGCAGTCC	-	102884959	7	5	193	1	0	1	0	1	0	0	0	0	15667	1783	62	0	117	0	TCEAL1	23	102884959	In_Frame_Del	DEL	TCGGAGGAGCAGTCC	TCGA-CG-5726-01A-11D-1600-08	24458028	102884959	52385601	1682	106915											
IRS4	8471	broad.mit.edu	37	chrX	107978669	107978669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccagagctctcccggaccGatgacagtggacctgcctac	10	15	1	2			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:107978669G>A	uc004eoc.2	-	1	939	c.906C>T	c.(904-906)ATC>ATT	p.I302I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	302	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTCCCGGACCGATGACAGTGG	0.547													A	107978669	G	A	107978669	2	1	193	1	0	0	0	0	0	0	0	1	7842	1048	37	1		1	IRS4	23	107978669	Silent	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5093710	107978669	47291891	1683	106916											
IL13RA2	3598	broad.mit.edu	37	chrX	114239869	114239869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaaagttttcttcgatAggtcttcacctaggattaaa	8	7	3	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:114239869A>G	uc004epx.2	-	9	1132	c.1007T>C	c.(1006-1008)CTA>CCA	p.L336P	IL13RA2_uc010nqd.1_Missense_Mutation_p.L336P	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	336	Extracellular (Potential).|Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						TTTCTTCGATAGGTCTTCACC	0.353													G	114239869	A	G	114239869	3	3	193	1	0	0	0	0	1	0	0	0	7630	420	15	3	143	3	IL13RA2	23	114239869	Missense_Mutation	SNP	A	TCGA-CG-5726-01A-11D-1600-08	6261200	114239869	41030691	1684	106917											
RHOXF2B	727940	broad.mit.edu	37	chrX	119293252	119293252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacgcgcagcagcccaaCgtccacgccttcaccccatt	8	19	1	0	rs142963365	byFrequency	TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:119293252C>T	uc004esl.3	+	2	601	c.411C>T	c.(409-411)AAC>AAT	p.N137N		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	137	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCAGCCCAACGTCCACGCCT	0.637													T	119293252	C	T	119293252	2	4	193	1	0	0	0	0	0	0	0	1	13349	535	19	1		1	RHOXF2B	23	119293252	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	5053383	119293252	35977308	1685	106918											
GRIA3	2892	broad.mit.edu	37	chrX	122551612	122551612	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctttatgcagcaaggAtgtgatatttctccaaggtt	11	7	1	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:122551612A>C	uc004etq.3	+	12	2153	c.1860A>C	c.(1858-1860)GGA>GGC	p.G620G	GRIA3_uc004etr.3_Silent_p.G620G|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.G604G	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	620	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TGCAGCAAGGATGTGATATTT	0.393													C	122551612	A	C	122551612	2	2	193	1	0	0	0	0	0	0	0	1	6769	320	12	5		5	GRIA3	23	122551612	Silent	SNP	A	TCGA-CG-5726-01A-11D-1600-08	3258360	122551612	32718948	1686	106919											
SLC9A6	10479	broad.mit.edu	37	chrX	135080679	135080679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtctatcctagcataCgcttttcttggaacagcaat	8	10	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:135080679C>T	uc004ezj.2	+	4	622	c.546C>T	c.(544-546)TAC>TAT	p.Y182Y	SLC9A6_uc004ezk.2_Silent_p.Y214Y|SLC9A6_uc011mvx.1_Silent_p.Y162Y	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	182	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TCCTAGCATACGCTTTTCTTG	0.279													T	135080679	C	T	135080679	2	4	193	1	0	0	0	0	0	0	0	1	14718	547	19	1		1	SLC9A6	23	135080679	Silent	SNP	C	TCGA-CG-5726-01A-11D-1600-08	12529067	135080679	20189881	1687	106920											
MAP7D3	79649	broad.mit.edu	37	chrX	135314105	135314105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctcaccacagggaaTgagtccgtgctcacctcagg	10	15	3	1			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:135314105T>C	uc004ezt.2	-	8	1102	c.1011A>G	c.(1009-1011)TCA>TCG	p.S337S	MAP7D3_uc004ezs.2_Silent_p.S301S|MAP7D3_uc011mwc.1_Silent_p.S319S|MAP7D3_uc010nsa.1_Silent_p.S295S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	337						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCACAGGGAATGAGTCCGTGC	0.577													C	135314105	T	C	135314105	2	2	193	1	0	0	0	0	0	0	0	1	9269	1451	51	3		3	MAP7D3	23	135314105	Silent	SNP	T	TCGA-CG-5726-01A-11D-1600-08	233426	135314105	19956455	1688	106921											
MAGEC1	9947	broad.mit.edu	37	chrX	140995606	140995606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagtcctcctgaggggcctGcccagtctcctctccagagt	11	15	2	3			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:140995606G>T	uc004fbt.2	+	4	2702	c.2416G>T	c.(2416-2418)GCC>TCC	p.A806S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	806							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGCCTGCCCAGTCTCC	0.562										HNSCC(15;0.026)			T	140995606	G	T	140995606	3	4	193	1	0	0	0	0	1	0	0	0	9180	1319	46	5	2422	5	MAGEC1	23	140995606	Missense_Mutation	SNP	G	TCGA-CG-5726-01A-11D-1600-08	5681501	140995606	14274954	1689	106922											
HCFC1	3054	broad.mit.edu	37	chrX	153215718	153215718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccacctcacttgtgtggCcgggccatagcccttctcat	9	16	2	0			TCGA-CG-5726-01A-11D-1600-08	TCGA-CG-5726-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f7072be-c58c-4821-a33c-d0717bea6d97	c5dc8974-70d2-4fca-bb42-4ec9091b24ac	g.chrX:153215718C>T	uc004fjp.2	-	24	6508	c.5980G>A	c.(5980-5982)GCC>ACC	p.A1994T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1994					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGTGTGGCCGGGCCATAG	0.627													T	153215718	C	T	153215718	3	4	193	1	0	0	0	0	1	0	0	0	6991	739	26	2	139	2	HCFC1	23	153215718	Missense_Mutation	SNP	C	TCGA-CG-5726-01A-11D-1600-08	12220112	153215718	2054842	1690	106923											
SCNN1D	6339	broad.mit.edu	37	chr1	1222237	1222237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacgtcaacctcagcaaagGcagagccgccctctccgcca	8	18	3	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:1222237G>T	uc001adu.1	+	7	1133	c.509G>T	c.(508-510)GGC>GTC	p.G170V	SCNN1D_uc001adt.1_Missense_Mutation_p.G334V|SCNN1D_uc001adw.2_Missense_Mutation_p.G236V|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.G170V	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-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;0.199)		CTCAGCAAAGGCAGAGCCGCC	0.667													T	1222237	G	T	1222237	3	4	194	1	0	0	0	0	1	0	0	0	13929	1203	42	5	725	5	SCNN1D	1	1222237	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08		1222237	248028384	1	106924											
DMBX1	127343	broad.mit.edu	37	chr1	46972811	46972811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccggccttcagtgcatgcGcttacattggctgagcgcct	11	13	1	1	rs145308708	byFrequency	TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:46972811G>A	uc001cpx.2	+	1	144	c.129G>A	c.(127-129)GCG>GCA	p.A43A	DMBX1_uc001cpw.2_Silent_p.A43A	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	43	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CAGTGCATGCGCTTACATTGG	0.637													A	46972811	G	A	46972811	2	1	194	1	0	0	0	0	0	0	0	1	4578	1074	38	1		1	DMBX1	1	46972811	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	45750574	46972811	202277810	2	106925											
BEND5	79656	broad.mit.edu	37	chr1	49193689	49193689	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcagtttcatccacagtttCttgtgctattctgtcataca	5	10	5	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:49193689C>G	uc001crx.3	-	6	1179	c.1135G>C	c.(1135-1137)GAA>CAA	p.E379Q	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.E210Q	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	379	BEN.									skin(1)	1						TCCACAGTTTCTTGTGCTATT	0.353													G	49193689	C	G	49193689	3	3	194	1	0	0	0	0	1	0	0	0	1401	922	32	5	134	5	BEND5	1	49193689	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	2220878	49193689	200056932	3	106926											
BEND5	79656	broad.mit.edu	37	chr1	49208340	49208340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgacaggcgcaggagcGgggtaataggacgacgtatt	15	8	0	1	rs146041042		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:49208340G>A	uc001crx.3	-	4	893	c.849C>T	c.(847-849)CCC>CCT	p.P283P	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.P114P	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	283										skin(1)	1						GCGCAGGAGCGGGGTAATAGG	0.468													A	49208340	G	A	49208340	2	1	194	1	0	0	0	0	0	0	0	1	1401	1103	39	1		1	BEND5	1	49208340	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	14651	49208340	200042281	4	106927											
BARHL2	343472	broad.mit.edu	37	chr1	91178119	91178119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaacatcctctgcagcgccGagtagttccctgcctcggcc	10	16	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:91178119G>A	uc001dns.2	-	3	956	c.914C>T	c.(913-915)TCG>TTG	p.S305L		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	305						nucleus	sequence-specific DNA binding			ovary(1)	1		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)		CTGCAGCGCCGAGTAGTTCCC	0.627													A	91178119	G	A	91178119	3	1	194	1	0	0	0	0	1	0	0	0	1314	1059	37	1	253	1	BARHL2	1	91178119	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	41969779	91178119	158072502	5	106928											
CDC7	8317	broad.mit.edu	37	chr1	91977205	91977205	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctttaggaagaatgatcaTgtagttattgctatgccata	9	5	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:91977205T>C	uc001doe.2	+	5	552	c.387T>C	c.(385-387)CAT>CAC	p.H129H	CDC7_uc001dof.2_Silent_p.H129H|CDC7_uc010osw.1_Silent_p.H101H|CDC7_uc009wdc.2_Silent_p.H129H	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	129	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			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		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)		AGAATGATCATGTAGTTATTG	0.333													C	91977205	T	C	91977205	2	2	194	1	0	0	0	0	0	0	0	1	3084	1461	51	3		3	CDC7	1	91977205	Silent	SNP	T	TCGA-CG-5727-01A-11D-1600-08	799086	91977205	157273416	6	106929											
GFI1	2672	broad.mit.edu	37	chr1	92941605	92941605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatttgagcccatgctgcGtctcccggtgccttcggagg	12	14	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:92941605G>A	uc001dou.3	-	7	1414	c.1250C>T	c.(1249-1251)ACG>ATG	p.T417M	GFI1_uc001dov.3_Missense_Mutation_p.T417M|GFI1_uc001dow.3_Missense_Mutation_p.T417M	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	417	C2H2-type 6.				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			large_intestine(1)	1		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)		CCCATGCTGCGTCTCCCGGTG	0.612													A	92941605	G	A	92941605	3	1	194	1	0	0	0	0	1	0	0	0	6339	1145	40	1	22	1	GFI1	1	92941605	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	964400	92941605	156309016	7	106930											
COL11A1	1301	broad.mit.edu	37	chr1	103387081	103387081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagagttcttacatcagctCcattgggaccttgagggcct	10	11	3	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:103387081C>T	uc001dul.2	-	48	4019	c.3701G>A	c.(3700-3702)GGA>GAA	p.G1234E	COL11A1_uc001duk.2_Missense_Mutation_p.G430E|COL11A1_uc001dum.2_Missense_Mutation_p.G1246E|COL11A1_uc001dun.2_Missense_Mutation_p.G1195E|COL11A1_uc009weh.2_Missense_Mutation_p.G1118E	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1234	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		TACATCAGCTCCATTGGGACC	0.363													T	103387081	C	T	103387081	3	4	194	1	0	0	0	0	1	0	0	0	3667	855	30	4	1799	4	COL11A1	1	103387081	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	10445476	103387081	145863540	8	106931											
NOTCH2	4853	broad.mit.edu	37	chr1	120529603	120529603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccattgtgggggacagCggcagttgtaagtgttgacc	15	8	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:120529603C>T	uc001eik.2	-	5	1110	c.854G>A	c.(853-855)CGC>CAC	p.R285H	NOTCH2_uc001eil.2_Missense_Mutation_p.R285H|NOTCH2_uc001eim.3_Missense_Mutation_p.R202H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	285	EGF-like 7; calcium-binding (Potential).|Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TGGGGGACAGCGGCAGTTGTA	0.468			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120529603	C	T	120529603	3	4	194	1	0	0	0	0	1	0	0	0	10548	768	27	1	6681	1	NOTCH2	1	120529603	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	17142522	120529603	128721018	9	106932											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859253	149859253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcgtcttcttgttgtcccGagccgcgttgcccgccagct	12	16	2	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:149859253G>A	uc001ete.2	-	1	214	c.214C>T	c.(214-216)CGG>TGG	p.R72W	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	72					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTGTTGTCCCGAGCCGCGTTG	0.632													A	149859253	G	A	149859253	3	1	194	1	0	0	0	0	1	0	0	0	7177	1057	37	1	182	1	HIST2H2AB	1	149859253	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	29329650	149859253	99391368	10	106933											
SELENBP1	8991	broad.mit.edu	37	chr1	151337403	151337403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtctgcttctcaccTgatgagatcagggtaaaact	9	10	3	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:151337403T>C	uc001exx.2	-	11	1302	c.1255A>G	c.(1255-1257)AGG>GGG	p.R419G	SELENBP1_uc010pcy.1_Missense_Mutation_p.R461G|SELENBP1_uc001exy.2_Missense_Mutation_p.R316G|SELENBP1_uc001exz.2_Missense_Mutation_p.R316G|SELENBP1_uc010pcz.1_Missense_Mutation_p.R357G|SELENBP1_uc009wms.2_Missense_Mutation_p.R255G|SELENBP1_uc009wmt.2_Missense_Mutation_p.R316G|SELENBP1_uc001eya.2_Missense_Mutation_p.R355G|SELENBP1_uc009wmu.2_3'UTR	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	419					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	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)			GCTTCTCACCTGATGAGATCA	0.572													C	151337403	T	C	151337403	3	2	194	1	0	0	0	0	1	0	0	0	14014	1594	55	3	171	3	SELENBP1	1	151337403	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	1478150	151337403	97913218	11	106934											
FLG	2312	broad.mit.edu	37	chr1	152275879	152275879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaagcttcatggtgacgcGaccctgagtgcctggagccg	15	11	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:152275879G>A	uc001ezu.1	-	3	11519	c.11483C>T	c.(11482-11484)TCG>TTG	p.S3828L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3828	Filaggrin 23.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.592									Ichthyosis				A	152275879	G	A	152275879	3	1	194	1	0	0	0	0	1	0	0	0	5922	1059	37	1	706	1	FLG	1	152275879	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	938476	152275879	96974742	12	106935											
ADAR	103	broad.mit.edu	37	chr1	154570392	154570392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcaagcagtgtggtgaCggggctcttcccagaaaaga	12	10	2	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:154570392C>T	uc001ffh.2	-	4	2046	c.1846G>A	c.(1846-1848)GTC>ATC	p.V616I	ADAR_uc001ffj.2_Missense_Mutation_p.V616I|ADAR_uc001ffi.2_Missense_Mutation_p.V616I|ADAR_uc001ffk.2_Missense_Mutation_p.V321I	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	616	DRBM 2.				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			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)		AGTGTGGTGACGGGGCTCTTC	0.502													T	154570392	C	T	154570392	3	4	194	1	0	0	0	0	1	0	0	0	281	536	19	1	1882	1	ADAR	1	154570392	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	2294513	154570392	94680229	13	106936											
CADM3	57863	broad.mit.edu	37	chr1	159169578	159169578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctccagcacctaccaCgccatcatcggtgggatcgt	8	17	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:159169578C>G	uc001ftl.2	+	8	1132	c.990C>G	c.(988-990)CAC>CAG	p.H330Q	CADM3_uc001ftk.2_Missense_Mutation_p.H364Q|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	330	Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					GCACCTACCACGCCATCATCG	0.542													G	159169578	C	G	159169578	3	3	194	1	0	0	0	0	1	0	0	0	2568	535	19	5	1126	5	CADM3	1	159169578	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	4599186	159169578	90081043	14	106937											
DDR2	4921	broad.mit.edu	37	chr1	162740230	162740230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acgatcgcatctttccccttCgccctgactaccaggagcca	7	17	1	1	rs34869543		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:162740230C>G	uc001gcf.2	+	13	1897	c.1432C>G	c.(1432-1434)CGC>GGC	p.R478G	DDR2_uc001gcg.2_Missense_Mutation_p.R478G	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	478	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTTTCCCCTTCGCCCTGACTA	0.532													G	162740230	C	G	162740230	3	3	194	1	0	0	0	0	1	0	0	0	4337	884	31	5	1470	5	DDR2	1	162740230	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	3570652	162740230	86510391	15	106938											
RASAL2	9462	broad.mit.edu	37	chr1	178427010	178427010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactcatgctgctcaagtGgagcatgcatctgtcatgct	10	11	4	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:178427010G>A	uc001glr.2	+	12	2285	c.2160G>A	c.(2158-2160)GTG>GTA	p.V720V	RASAL2_uc001glq.2_Silent_p.V861V|RASAL2_uc009wxc.2_Silent_p.V234V	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	720					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CTGCTCAAGTGGAGCATGCAT	0.517													A	178427010	G	A	178427010	2	1	194	1	0	0	0	0	0	0	0	1	13064	1335	47	4		4	RASAL2	1	178427010	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	15686780	178427010	70823611	16	106939											
MOSC1	64757	broad.mit.edu	37	chr1	220971337	220971337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcccaatattgtaatttcagGatgcgatgtctatgcagagg	11	7	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:220971337G>T	uc001hms.2	+	4	982	c.734G>T	c.(733-735)GGA>GTA	p.G245V	MOSC1_uc001hmt.2_Missense_Mutation_p.G245V	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	245	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.0358)		GTAATTTCAGGATGCGATGTC	0.423													T	220971337	G	T	220971337	3	4	194	1	0	0	0	0	1	0	0	0	9713	1174	41	5	748	5	MOSC1	1	220971337	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	42544327	220971337	28279284	17	106940											
ARID4B	51742	broad.mit.edu	37	chr1	235345675	235345675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgctactgttttccatGcaaagtgattctttgttctt	7	8	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr1:235345675G>A	uc001hwq.2	-	20	3057	c.2559C>T	c.(2557-2559)TGC>TGT	p.C853C	ARID4B_uc001hwr.2_Silent_p.C767C|ARID4B_uc001hws.3_Silent_p.C767C|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Silent_p.C534C	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	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)			TGTTTTCCATGCAAAGTGATT	0.368													A	235345675	G	A	235345675	2	1	194	1	0	0	0	0	0	0	0	1	920	1311	46	2		2	ARID4B	1	235345675	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	14374338	235345675	13904946	18	106941											
PROKR1	10887	broad.mit.edu	37	chr2	68882420	68882420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctacgtgctatgctgggcGcccttctacggcttcaccat	10	15	2	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:68882420G>A	uc010yqj.1	+	2	894	c.894G>A	c.(892-894)GCG>GCA	p.A298A	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	298	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						TATGCTGGGCGCCCTTCTACG	0.592													A	68882420	G	A	68882420	2	1	194	1	0	0	0	0	0	0	0	1	12552	1074	38	1		1	PROKR1	2	68882420	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08		68882420	174316953	19	106942											
ANXA4	307	broad.mit.edu	37	chr2	70015260	70015260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaccctgaggaaggcCatgaaagggctcggtatgtg	15	10	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:70015260C>T	uc002sfr.3	+	3	311	c.84C>T	c.(82-84)GCC>GCT	p.A28A	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Silent_p.A28A|ANXA4_uc010yqo.1_Intron	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	26	Annexin 1.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						TGAGGAAGGCCATGAAAGGGC	0.537													T	70015260	C	T	70015260	2	4	194	1	0	0	0	0	0	0	0	1	720	581	21	4		4	ANXA4	2	70015260	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	1132840	70015260	173184113	20	106943											
DYSF	8291	broad.mit.edu	37	chr2	71780317	71780317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagccgtgcagtctttgaCggtgaggcagtgctcctggc	14	11	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:71780317C>T	uc002sie.2	+	20	2305	c.1929C>T	c.(1927-1929)GAC>GAT	p.D643D	DYSF_uc010feg.2_Silent_p.D674D|DYSF_uc010feh.2_Silent_p.D629D|DYSF_uc002sig.3_Silent_p.D629D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.D643D|DYSF_uc010fef.2_Silent_p.D660D|DYSF_uc010fei.2_Silent_p.D660D|DYSF_uc010fek.2_Silent_p.D661D|DYSF_uc010fej.2_Silent_p.D630D|DYSF_uc010fel.2_Silent_p.D630D|DYSF_uc010feo.2_Silent_p.D675D|DYSF_uc010fem.2_Silent_p.D644D|DYSF_uc010fen.2_Silent_p.D661D|DYSF_uc002sif.2_Silent_p.D644D	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	643	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CAGTCTTTGACGGTGAGGCAG	0.587													T	71780317	C	T	71780317	2	4	194	1	0	0	0	0	0	0	0	1	4859	550	19	1		1	DYSF	2	71780317	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	1765057	71780317	171419056	21	106944											
DYSF	8291	broad.mit.edu	37	chr2	71825803	71825803	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcttctacgagatcgagatCtttggcgagccggccacagt	11	11	3	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:71825803C>T	uc002sie.2	+	33	4006	c.3630C>T	c.(3628-3630)ATC>ATT	p.I1210I	DYSF_uc010feg.2_Silent_p.I1241I|DYSF_uc010feh.2_Silent_p.I1196I|DYSF_uc002sig.3_Silent_p.I1196I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.I1210I|DYSF_uc010fef.2_Silent_p.I1227I|DYSF_uc010fei.2_Silent_p.I1227I|DYSF_uc010fek.2_Silent_p.I1228I|DYSF_uc010fej.2_Silent_p.I1197I|DYSF_uc010fel.2_Silent_p.I1197I|DYSF_uc010feo.2_Silent_p.I1242I|DYSF_uc010fem.2_Silent_p.I1211I|DYSF_uc010fen.2_Silent_p.I1228I|DYSF_uc002sif.2_Silent_p.I1211I|DYSF_uc010yqy.1_Silent_p.I91I	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1210	Cytoplasmic (Potential).|C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGATCGAGATCTTTGGCGAGC	0.582													T	71825803	C	T	71825803	2	4	194	1	0	0	0	0	0	0	0	1	4859	903	32	4		4	DYSF	2	71825803	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	45486	71825803	171373570	22	106945											
TSGA10	80705	broad.mit.edu	37	chr2	99636757	99636757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacattttattttctgcCaaacaaaggtgttctttaag	5	8	3	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:99636757C>T	uc002szg.3	-	16	2431	c.1803G>A	c.(1801-1803)TTG>TTA	p.L601L	TSGA10_uc002szh.3_Silent_p.L601L|TSGA10_uc002szi.3_Silent_p.L601L|TSGA10_uc010fin.1_Silent_p.L601L	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	601	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						TATTTTCTGCCAAACAAAGGT	0.308													T	99636757	C	T	99636757	2	4	194	1	0	0	0	0	0	0	0	1	16614	593	21	4		4	TSGA10	2	99636757	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	27810954	99636757	143562616	23	106946											
IL1F5	26525	broad.mit.edu	37	chr2	113818509	113818509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatgcagggaaggtcaTtaaaggttggtgatgaaaca	14	5	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:113818509T>C	uc002tis.2	+	3	243	c.110T>C	c.(109-111)ATT>ACT	p.I37T	IL1F5_uc002tit.2_Missense_Mutation_p.I37T	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	interleukin 1 family, member 5	37						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0						GGGAAGGTCATTAAAGGTTGG	0.473													C	113818509	T	C	113818509	3	2	194	1	0	0	0	0	1	0	0	0	7653	1493	52	3	116	3	IL1F5	2	113818509	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	14181752	113818509	129380864	24	106947											
ZEB2	9839	broad.mit.edu	37	chr2	145157076	145157076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaaatctattaaagtacGtagcttctctttctttatat	4	8	3	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:145157076G>A	uc002tvu.2	-	8	2158	c.1678C>T	c.(1678-1680)CGT>TGT	p.R560C	ZEB2_uc002tvv.2_Missense_Mutation_p.R554C|ZEB2_uc010zbm.1_Missense_Mutation_p.R531C|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.R589C	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	560						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTAAAGTACGTAGCTTCTCT	0.393													A	145157076	G	A	145157076	3	1	194	1	0	0	0	0	1	0	0	0	17621	1145	40	1	1978	1	ZEB2	2	145157076	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	31338567	145157076	98042297	25	106948											
SCN2A	6326	broad.mit.edu	37	chr2	166187901	166187901	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaatttgctaatatgtgtttGatttgggactgttgtaaacc	9	4	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:166187901G>C	uc002udc.2	+	14	2501	c.2211G>C	c.(2209-2211)TTG>TTC	p.L737F	SCN2A_uc002udd.2_Missense_Mutation_p.L737F|SCN2A_uc002ude.2_Missense_Mutation_p.L737F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	737					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATATGTGTTTGATTTGGGACT	0.398													C	166187901	G	C	166187901	3	2	194	1	0	0	0	0	1	0	0	0	13916	1281	45	5	2357	5	SCN2A	2	166187901	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	21030825	166187901	77011472	26	106949											
SCN2A	6326	broad.mit.edu	37	chr2	166221688	166221688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatctgaaggcagcacGgttgatattggagctcccgc	12	10	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:166221688G>A	uc002udc.2	+	18	3725	c.3435G>A	c.(3433-3435)ACG>ACA	p.T1145T	SCN2A_uc002udd.2_Silent_p.T1145T|SCN2A_uc002ude.2_Silent_p.T1145T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1145					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AAGGCAGCACGGTTGATATTG	0.363													A	166221688	G	A	166221688	2	1	194	1	0	0	0	0	0	0	0	1	13916	1103	39	1		1	SCN2A	2	166221688	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	33787	166221688	76977685	27	106950											
TTN	7273	broad.mit.edu	37	chr2	179581831	179581831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctaacaagtaccttgtacacCcagctgagcagaacaagagt	8	11	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:179581831C>G	uc010zfg.1	-	85	22122	c.21898G>C	c.(21898-21900)GGT>CGT	p.G7300R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3961R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8227							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGTACACCCAGCTGAGCA	0.458													G	179581831	C	G	179581831	3	3	194	1	0	0	0	0	1	0	0	0	16732	623	22	5	78999	5	TTN	2	179581831	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	13360143	179581831	63617542	28	106951											
DNAH7	56171	broad.mit.edu	37	chr2	196877523	196877523	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctttacattttaagtagaGtctctttggcagagtccatg	8	8	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:196877523G>C	uc002utj.3	-	10	1078	c.977C>G	c.(976-978)ACT>AGT	p.T326S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	326	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTTAAGTAGAGTCTCTTTGGC	0.333													C	196877523	G	C	196877523	3	2	194	1	0	0	0	0	1	0	0	0	4606	1029	36	5	11321	5	DNAH7	2	196877523	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	17295692	196877523	46321850	29	106952											
ALS2	57679	broad.mit.edu	37	chr2	202626541	202626541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagctgtagacctcaccaTctgaaggttaaaaaaaagaa	7	8	2	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:202626541T>C	uc002uyo.2	-	4	532	c.176A>G	c.(175-177)GAT>GGT	p.D59G	ALS2_uc002uyp.3_Missense_Mutation_p.D59G|ALS2_uc002uyq.2_Missense_Mutation_p.D59G|ALS2_uc002uyr.2_Missense_Mutation_p.D59G	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	59	RCC1 1.				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			skin(5)|lung(1)|breast(1)	7						GACCTCACCATCTGAAGGTTa	0.358													C	202626541	T	C	202626541	3	2	194	1	0	0	0	0	1	0	0	0	550	1449	50	3	4999	3	ALS2	2	202626541	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	5749018	202626541	40572832	30	106953											
PTPRN	5798	broad.mit.edu	37	chr2	220168525	220168525	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctcctgagagatcacataCtgggtgaggtcatcgtgcca	11	10	3	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr2:220168525C>G	uc002vkz.2	-	4	398	c.309G>C	c.(307-309)CAG>CAC	p.Q103H	PTPRN_uc010zlc.1_Missense_Mutation_p.Q13H|PTPRN_uc002vla.2_Missense_Mutation_p.Q103H	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	103	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGATCACATACTGGGTGAGGT	0.572													G	220168525	C	G	220168525	3	3	194	1	0	0	0	0	1	0	0	0	12807	564	20	5	2710	5	PTPRN	2	220168525	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	17541984	220168525	23030848	31	106954											
CPNE9	151835	broad.mit.edu	37	chr3	9746659	9746659	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatttctttgaggaaaagCaaaatctgcgcttcgatgtg	9	7	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:9746659C>T	uc003bsd.2	+	4	412	c.241C>T	c.(241-243)CAA>TAA	p.Q81*		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	81	C2 1.									ovary(2)	2	Medulloblastoma(99;0.227)					TGAGGAAAAGCAAAATCTGCG	0.602													T	9746659	C	T	9746659	4	4	194	1	0	0	0	0	0	1	0	0	3819	711	25	2	255	2	CPNE9	3	9746659	Nonsense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08		9746659	188275771	32	106955											
BRPF1	7862	broad.mit.edu	37	chr3	9788874	9788874	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcccaggaccaagctGgttcctctgggtgtgaacca	13	12	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:9788874G>C	uc003bse.2	+	14	3885	c.3486G>C	c.(3484-3486)CTG>CTC	p.L1162L	BRPF1_uc003bsf.2_Silent_p.L1168L|BRPF1_uc003bsg.2_Silent_p.L1161L|BRPF1_uc011ati.1_Silent_p.L1067L|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	1162	PWWP.				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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GGACCAAGCTGGTTCCTCTGG	0.522													C	9788874	G	C	9788874	2	2	194	1	0	0	0	0	0	0	0	1	1520	1335	47	5		5	BRPF1	3	9788874	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	42215	9788874	188233556	33	106956											
CAPN7	23473	broad.mit.edu	37	chr3	15270563	15270563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaataagaagttaattaCcgggtaaaaatgtgtctctc	7	5	1	1	rs140855092		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:15270563C>T	uc003bzn.2	+	8	1205	c.935C>T	c.(934-936)ACC>ATC	p.T312I		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	312	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						AAGTTAATTACCGGGTAAAAA	0.348													T	15270563	C	T	15270563	3	4	194	1	0	0	0	0	1	0	0	0	2631	507	18	4	965	4	CAPN7	3	15270563	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	5481689	15270563	182751867	34	106957											
CTNNB1	1499	broad.mit.edu	37	chr3	41266113	41266113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctggactctggaatccattCtggtgccactaccacagctc	8	15	2	0	rs121913403		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:41266113C>G	uc010hia.1	+	4	266	c.110C>G	c.(109-111)TCT>TGT	p.S37C	CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	37			S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma).		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.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498	S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM)	15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				G	41266113	C	G	41266113	3	3	194	1	0	0	0	0	1	0	0	0	4016	913	32	5	116	5	CTNNB1	3	41266113	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	25995550	41266113	156756317	35	106958											
ALS2CL	259173	broad.mit.edu	37	chr3	46718164	46718164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctgcagggccttgggctCccggtgctgcagcagctcct	14	15	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:46718164C>T	uc003cqa.1	-	18	2186	c.1996G>A	c.(1996-1998)GAG>AAG	p.E666K	ALS2CL_uc003cpx.1_Missense_Mutation_p.E13K|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.E181K|ALS2CL_uc003cqb.1_Missense_Mutation_p.E666K|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	666					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCTTGGGCTCCCGGTGCTGC	0.637													T	46718164	C	T	46718164	3	4	194	1	0	0	0	0	1	0	0	0	551	864	30	4	901	4	ALS2CL	3	46718164	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	5452051	46718164	151304266	36	106959											
DHX30	22907	broad.mit.edu	37	chr3	47888357	47888357	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggggacaatgagcgcTtctcccgatactttggtggc	12	12	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:47888357T>A	uc003cru.2	+	11	2221	c.1795T>A	c.(1795-1797)TTC>ATC	p.F599I	DHX30_uc003crt.2_Missense_Mutation_p.F560I|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	599	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAATGAGCGCTTCTCCCGATA	0.592													A	47888357	T	A	47888357	3	1	194	1	0	0	0	0	1	0	0	0	4504	1609	56	5	1840	5	DHX30	3	47888357	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	1170193	47888357	150134073	37	106960											
MITF	4286	broad.mit.edu	37	chr3	69988303	69988303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcgagtgcccaggcatgAacacacattcacgagcgtcc	11	13	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:69988303A>G	uc003dnz.2	+	4	753	c.637A>G	c.(637-639)AAC>GAC	p.N213D	MITF_uc011bgb.1_Missense_Mutation_p.N161D|MITF_uc003doa.2_Missense_Mutation_p.N212D|MITF_uc003dob.2_Missense_Mutation_p.N197D|MITF_uc003dod.2_Missense_Mutation_p.N188D|MITF_uc003doe.2_Missense_Mutation_p.N106D|MITF_uc003dof.2_Missense_Mutation_p.N106D	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	213					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			ovary(2)	2		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)		CCCAGGCATGAACACACATTC	0.428			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						G	69988303	A	G	69988303	3	3	194	1	0	0	0	0	1	0	0	0	9596	246	9	3	872	3	MITF	3	69988303	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	22099946	69988303	128034127	38	106961											
MYH15	22989	broad.mit.edu	37	chr3	108195277	108195277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctctggtaacatattcGttaccaactttgattctagg	7	9	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:108195277G>A	uc003dxa.1	-	13	1317	c.1260C>T	c.(1258-1260)AAC>AAT	p.N420N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	420	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TAACATATTCGTTACCAACTT	0.358													A	108195277	G	A	108195277	2	1	194	1	0	0	0	0	0	0	0	1	10034	1136	40	1		1	MYH15	3	108195277	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	38206974	108195277	89827153	39	106962											
ZBBX	79740	broad.mit.edu	37	chr3	166960346	166960346	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggtcttaaggaaatcTgtggaaatctgacttatatt	10	4	3	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:166960346T>G	uc003fep.2	-	20	2546	c.2223A>C	c.(2221-2223)ACA>ACC	p.T741T	ZBBX_uc011bpc.1_Silent_p.T780T|ZBBX_uc003feq.2_Silent_p.T712T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	741						intracellular	zinc ion binding			ovary(2)	2						TAAGGAAATCTGTGGAAATCT	0.358													G	166960346	T	G	166960346	2	3	194	1	0	0	0	0	0	0	0	1	17513	1567	55	5		5	ZBBX	3	166960346	Silent	SNP	T	TCGA-CG-5727-01A-11D-1600-08	58765069	166960346	31062084	40	106963											
KLHL24	54800	broad.mit.edu	37	chr3	183368270	183368270	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcatgagttttttgacttCtcttcaggatcatcccatgc	8	10	4	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:183368270C>A	uc003flv.2	+	3	421	c.126C>A	c.(124-126)TTC>TTA	p.F42L	KLHL24_uc003flw.2_Missense_Mutation_p.F42L|KLHL24_uc003flx.2_Missense_Mutation_p.F42L	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	42						axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTTTGACTTCTCTTCAGGAT	0.408													A	183368270	C	A	183368270	3	1	194	1	0	0	0	0	1	0	0	0	8379	912	32	5	128	5	KLHL24	3	183368270	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	16407924	183368270	14654160	41	106964											
EIF4A2	1974	broad.mit.edu	37	chr3	186504980	186504980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattacacaggctgttatttTtctcaatacgaggcgcaagg	9	9	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr3:186504980T>C	uc003fqs.2	+	8	875	c.836T>C	c.(835-837)TTT>TCT	p.F279S	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.F280S|EIF4A2_uc003fqv.2_Missense_Mutation_p.F184S|EIF4A2_uc003fqw.2_Missense_Mutation_p.F184S|EIF4A2_uc011bsb.1_Missense_Mutation_p.F152S|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	279	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			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GCTGTTATTTTTCTCAATACG	0.413			T	BCL6	NHL								C	186504980	T	C	186504980	3	2	194	1	0	0	0	0	1	0	0	0	5025	1841	64	3	866	3	EIF4A2	3	186504980	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	3136710	186504980	11517450	42	106965											
UGDH	7358	broad.mit.edu	37	chr4	39505505	39505505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgattacctggaagccaAtggtttgtagttcattgtgg	11	6	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr4:39505505A>G	uc003guk.1	-	11	1680	c.1364T>C	c.(1363-1365)ATT>ACT	p.I455T	UGDH_uc011byp.1_Missense_Mutation_p.I358T|UGDH_uc003gul.1_Missense_Mutation_p.I388T	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	455					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			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	CTGGAAGCCAATGGTTTGTAG	0.308													G	39505505	A	G	39505505	3	3	194	1	0	0	0	0	1	0	0	0	16937	101	4	3	128	3	UGDH	4	39505505	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08		39505505	151648771	43	106966											
RBM47	54502	broad.mit.edu	37	chr4	40439969	40439969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccacgggcttggccagCgtgacctccaggcacgagcc	13	15	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr4:40439969C>T	uc003gvc.2	-	4	1652	c.942G>A	c.(940-942)ACG>ACA	p.T314T	RBM47_uc003gvd.2_Silent_p.T314T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.T276T|RBM47_uc003gvg.1_Silent_p.T314T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	314	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(3)	3						GCTTGGCCAGCGTGACCTCCA	0.662													T	40439969	C	T	40439969	2	4	194	1	0	0	0	0	0	0	0	1	13141	755	27	1		1	RBM47	4	40439969	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	934464	40439969	150714307	44	106967											
EPHA5	2044	broad.mit.edu	37	chr4	66509144	66509144	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgcgtgaatccaataaattCactgaaaagaaaagaacaaa	7	6	1	4			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr4:66509144C>A	uc003hcy.2	-	2	376	c.183G>T	c.(181-183)GTG>GTT	p.V61V	EPHA5_uc003hcx.2_5'UTR|EPHA5_uc003hcz.2_Silent_p.V61V|EPHA5_uc011cah.1_Silent_p.V61V|EPHA5_uc011cai.1_Silent_p.V61V|EPHA5_uc003hda.2_Silent_p.V61V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	61	Extracellular (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCAATAAATTCACTGAAAAGA	0.294										TSP Lung(17;0.13)			A	66509144	C	A	66509144	2	1	194	1	0	0	0	0	0	0	0	1	5170	840	29	5		5	EPHA5	4	66509144	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	26069175	66509144	124645132	45	106968											
FAT4	79633	broad.mit.edu	37	chr4	126372210	126372210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtcgaaagaagggtttcCagatcaataagaagactgga	11	5	1	4			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr4:126372210C>A	uc003ifj.3	+	9	10039	c.10039C>A	c.(10039-10041)CAG>AAG	p.Q3347K	FAT4_uc011cgp.1_Missense_Mutation_p.Q1645K|FAT4_uc003ifi.1_Missense_Mutation_p.Q825K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3347	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAAGGGTTTCCAGATCAATAA	0.408													A	126372210	C	A	126372210	3	1	194	1	0	0	0	0	1	0	0	0	5692	595	21	5	10073	5	FAT4	4	126372210	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	59863066	126372210	64782066	46	106969											
FAT4	79633	broad.mit.edu	37	chr4	126411351	126411351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcccagactcgcacacGggaaggacctgtgagatggt	14	11	0	2	rs146914959		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr4:126411351G>A	uc003ifj.3	+	17	13374	c.13374G>A	c.(13372-13374)ACG>ACA	p.T4458T	FAT4_uc011cgp.1_Silent_p.T2699T|FAT4_uc003ifi.1_Silent_p.T1935T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4458	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACTCGCACACGGGAAGGACCT	0.627													A	126411351	G	A	126411351	2	1	194	1	0	0	0	0	0	0	0	1	5692	1103	39	1		1	FAT4	4	126411351	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	39141	126411351	64742925	47	106970											
GLRB	2743	broad.mit.edu	37	chr4	158060076	158060076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatattgaatatggtaaCtgtacaaaatactataaagg	8	3	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr4:158060076C>A	uc003ipj.2	+	7	928	c.726C>A	c.(724-726)AAC>AAA	p.N242K		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	242	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AATATGGTAACTGTACAAAAT	0.308													A	158060076	C	A	158060076	3	1	194	1	0	0	0	0	1	0	0	0	6458	564	20	5	748	5	GLRB	4	158060076	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	31648725	158060076	33094200	48	106971											
MARCH1	55016	broad.mit.edu	37	chr4	164506905	164506905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatggatactgtaccttcCggaggggtttgagcttggtc	13	9	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr4:164506905C>T	uc003iqs.1	-	6	1396	c.419G>A	c.(418-420)CGG>CAG	p.R140Q	MARCH1_uc003iqr.1_Missense_Mutation_p.R123Q	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	140					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			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGTACCTTCCGGAGGGGTTT	0.453													T	164506905	C	T	164506905	3	4	194	1	0	0	0	0	1	0	0	0	9298	652	23	1	462	1	MARCH1	4	164506905	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	6446829	164506905	26647371	49	106972											
SDHA	6389	broad.mit.edu	37	chr5	256491	256491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatcgacaaaactttgaacGaggctgactgtgccaccgtc	10	11	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:256491G>A	uc003jao.3	+	15	2066	c.1951G>A	c.(1951-1953)GAG>AAG	p.E651K	SDHA_uc011clw.1_Missense_Mutation_p.E603K|SDHA_uc003jap.3_Missense_Mutation_p.E570K|SDHA_uc003jaq.3_Missense_Mutation_p.E426K|SDHA_uc003jar.3_Missense_Mutation_p.E245K	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	651					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				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACTTTGAACGAGGCTGACTG	0.428									Familial_Paragangliomas				A	256491	G	A	256491	3	1	194	1	0	0	0	0	1	0	0	0	13963	1059	37	1	2009	1	SDHA	5	256491	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08		256491	180658769	50	106973											
SV2C	22987	broad.mit.edu	37	chr5	75587088	75587088	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaaatagatgagctgattGaaattgagagtgacacagga	11	4	0	6			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:75587088G>A	uc003kei.1	+	7	1314	c.1180G>A	c.(1180-1182)GAA>AAA	p.E394K		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	394	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGAGCTGATTGAAATTGAGAG	0.423													A	75587088	G	A	75587088	3	1	194	1	0	0	0	0	1	0	0	0	15416	1291	45	4	1202	4	SV2C	5	75587088	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	75330597	75587088	105328172	51	106974											
YTHDC2	64848	broad.mit.edu	37	chr5	112868662	112868662	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaagacgattggcagctatCgctgtggctgaaagagttgc	13	9	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:112868662C>T	uc003kqn.2	+	5	945	c.762C>T	c.(760-762)ATC>ATT	p.I254I	YTHDC2_uc010jce.1_Silent_p.I254I|YTHDC2_uc010jcf.1_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	254	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		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)		TGGCAGCTATCGCTGTGGCTG	0.408													T	112868662	C	T	112868662	2	4	194	1	0	0	0	0	0	0	0	1	17494	874	31	1		1	YTHDC2	5	112868662	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	37281574	112868662	68046598	52	106975											
TCF7	6932	broad.mit.edu	37	chr5	133478792	133478792	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagcgcgggacaactacGtgagtgcctagtgacacaca	13	11	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:133478792G>A	uc003kyt.2	+	8	1222	c.1026_splice	c.e8+1	p.Y342_splice	TCF7_uc003kyu.1_Splice_Site_p.Y227_splice|TCF7_uc003kyv.2_Splice_Site_p.Y227_splice|TCF7_uc003kyw.2_Splice_Site_p.Y227_splice|TCF7_uc003kyx.2_Splice_Site_p.Y140_splice|TCF7_uc003kyy.2_Splice_Site_p.Y227_splice|TCF7_uc003kyz.2_Splice_Site_p.Y227_splice|TCF7_uc003kza.2_Splice_Site_p.Y227_splice|TCF7_uc003kzb.2_Splice_Site_p.Y156_splice|TCF7_uc010jdu.2_5'Flank	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,						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				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGACAACTACGTGAGTGCCTA	0.587													A	133478792	G	A	133478792	5	1	194	1	0	0	0	0	0	0	1	0	15693	1159	40	1	1057	1	TCF7	5	133478792	Splice_Site	SNP	G	TCGA-CG-5727-01A-11D-1600-08	20610130	133478792	47436468	53	106976											
PCDHA9	9752	broad.mit.edu	37	chr5	140229470	140229470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccgagtacacggtgttcGtgaaggagaacaacccgccg	13	11	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:140229470G>A	uc003lhu.2	+	1	2114	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V464M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	464	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTTCGTGAAGGAGAA	0.662													A	140229470	G	A	140229470	3	1	194	1	0	0	0	0	1	0	0	0	11531	1145	40	1	1392	1	PCDHA9	5	140229470	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	6750678	140229470	40685790	54	106977											
PCDHA12	56137	broad.mit.edu	37	chr5	140256833	140256833	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgcgggccacgtggtggcGaaagtgcgcgcggtggacgc	21	10	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:140256833G>A	uc003lic.2	+	1	1903	c.1776G>A	c.(1774-1776)GCG>GCA	p.A592A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A592A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	592	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGGTGGCGAAAGTGCGCG	0.697													A	140256833	G	A	140256833	2	1	194	1	0	0	0	0	0	0	0	1	11522	1045	37	1		1	PCDHA12	5	140256833	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	27363	140256833	40658427	55	106978											
PCDHB13	56123	broad.mit.edu	37	chr5	140595315	140595315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaccacggctccccggcGctgagcagcgaggcgctggt	15	15	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:140595315G>A	uc003lja.1	+	1	1807	c.1620G>A	c.(1618-1620)GCG>GCA	p.A540A		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	540	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGCTGAGCAGCG	0.697													A	140595315	G	A	140595315	2	1	194	1	0	0	0	0	0	0	0	1	11538	1074	38	1		1	PCDHB13	5	140595315	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	338482	140595315	40319945	56	106979											
FGF1	2246	broad.mit.edu	37	chr5	141993608	141993608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgttgctacagtagaGgagtttgggcttcttgtaat	12	9	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:141993608G>T	uc003lmm.2	-	2	165	c.85C>A	c.(85-87)CTC>ATC	p.L29I	FGF1_uc011dbi.1_Missense_Mutation_p.L29I|FGF1_uc003lmn.3_Missense_Mutation_p.L29I|FGF1_uc003lmp.3_Missense_Mutation_p.L29I|FGF1_uc003lmq.2_Missense_Mutation_p.L29I|FGF1_uc010jgj.2_Missense_Mutation_p.L29I|FGF1_uc003lmr.2_Missense_Mutation_p.L29I|FGF1_uc003lms.3_Missense_Mutation_p.L29I	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic) isoform 1	29					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	CTACAGTAGAGGAGTTTGGGC	0.552													T	141993608	G	T	141993608	3	4	194	1	0	0	0	0	1	0	0	0	5838	1000	35	5	394	5	FGF1	5	141993608	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	1398293	141993608	38921652	57	106980											
FAT2	2196	broad.mit.edu	37	chr5	150891882	150891882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcctcttcgttgaccaCgacagcatccaggcagcctt	9	14	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:150891882C>T	uc003lue.3	-	20	11762	c.11749G>A	c.(11749-11751)GTG>ATG	p.V3917M	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V524M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3917	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGTTGACCACGACAGCATCC	0.592													T	150891882	C	T	150891882	3	4	194	1	0	0	0	0	1	0	0	0	5690	536	19	1	1316	1	FAT2	5	150891882	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	8898274	150891882	30023378	58	106981											
SLIT3	6586	broad.mit.edu	37	chr5	168175345	168175345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgcctctggggagggcGcggagccccttgttgctgca	17	12	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:168175345G>A	uc003mab.2	-	20	2652	c.2232C>T	c.(2230-2232)CGC>CGT	p.R744R	SLIT3_uc010jjg.2_Silent_p.R744R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	744	LRRNT 4.				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			ovary(3)|skin(1)	4	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)			TGGGGAGGGCGCGGAGCCCCT	0.632													A	168175345	G	A	168175345	2	1	194	1	0	0	0	0	0	0	0	1	14741	1074	38	1		1	SLIT3	5	168175345	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	17283463	168175345	12739915	59	106982											
GFPT2	9945	broad.mit.edu	37	chr5	179763495	179763495	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttactgtaaagttcttcatcGagagccttgactttccccct	6	12	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr5:179763495G>A	uc003mlw.1	-	3	296	c.198C>T	c.(196-198)CTC>CTT	p.L66L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	66	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			ovary(1)|skin(1)	2	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)	GTTCTTCATCGAGAGCCTTGA	0.522													A	179763495	G	A	179763495	2	1	194	1	0	0	0	0	0	0	0	1	6346	1045	37	1		1	GFPT2	5	179763495	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	11588150	179763495	1151765	60	106983											
DTNBP1	84062	broad.mit.edu	37	chr6	15638038	15638039	+	Splice_Site	INS	-	-	A													cccatgtatcctcatacctaINSaaaaaaagcaaaaaataatt					rs140124163		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:15638037_15638038T>TA	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGCA	0.366									Hermansky-Pudlak syndrome				A	15638039	-	A	15638038	8	5	194	1	0	1	1	0	0	0	1	0	4790	377	13	0		0	DTNBP1	6	15638038	Splice_Site	INS	-	TCGA-CG-5727-01A-11D-1600-08		15638038	155477029	61	106984											
KIAA0319	9856	broad.mit.edu	37	chr6	24559301	24559301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttctcctttgagagccGcatgtgcagatttcgggcca	11	12	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:24559301G>A	uc011djo.1	-	17	2911	c.2674C>T	c.(2674-2676)CGG>TGG	p.R892W	KIAA0319_uc011djp.1_Missense_Mutation_p.R847W|KIAA0319_uc003neh.1_Missense_Mutation_p.R892W|KIAA0319_uc011djq.1_Missense_Mutation_p.R883W|KIAA0319_uc011djr.1_Missense_Mutation_p.R892W|KIAA0319_uc010jpt.1_Missense_Mutation_p.R303W	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	892	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TTTGAGAGCCGCATGTGCAGA	0.473													A	24559301	G	A	24559301	3	1	194	1	0	0	0	0	1	0	0	0	8168	1086	38	1	564	1	KIAA0319	6	24559301	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	8921263	24559301	146555766	62	106985											
DST	667	broad.mit.edu	37	chr6	56462620	56462620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctccaacaggttaccaTtaacttcatcctcttctcca	3	15	4	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:56462620T>C	uc003pdf.2	-	41	5784	c.5756A>G	c.(5755-5757)AAT>AGT	p.N1919S	DST_uc003pcz.3_Missense_Mutation_p.N1741S|DST_uc011dxj.1_Missense_Mutation_p.N1770S|DST_uc011dxk.1_Missense_Mutation_p.N1781S|DST_uc003pcy.3_Missense_Mutation_p.N1415S|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3827					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGGTTACCATTAACTTCATC	0.423													C	56462620	T	C	56462620	3	2	194	1	0	0	0	0	1	0	0	0	4783	1493	52	3	11499	3	DST	6	56462620	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	31903319	56462620	114652447	63	106986											
KIAA1586	57691	broad.mit.edu	37	chr6	56919487	56919487	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtttaacaatagatcatgtAtcagatttaatgacaataaa	5	4	2	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:56919487A>T	uc003pdj.2	+	4	2360	c.2190A>T	c.(2188-2190)GTA>GTT	p.V730V	KIAA1586_uc011dxm.1_Silent_p.V703V	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	730							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			tagatcatgtatcagatttaa	0.085													T	56919487	A	T	56919487	2	4	194	1	0	0	0	0	0	0	0	1	8245	436	16	5		5	KIAA1586	6	56919487	Silent	SNP	A	TCGA-CG-5727-01A-11D-1600-08	456867	56919487	114195580	64	106987											
COL12A1	1303	broad.mit.edu	37	chr6	75797371	75797371	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggacctgggggtcctcGgatacctgagtttccaggac	15	10	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:75797371G>A	uc003phs.2	-	65	9269	c.9103C>T	c.(9103-9105)CGA>TGA	p.R3035*	COL12A1_uc003pht.2_Nonsense_Mutation_p.R1871*	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3035	Triple-helical region (COL1) with 2 imperfections.			R -> Q (in Ref. 1; AAC51244).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGGGGTCCTCGGATACCTGAG	0.572													A	75797371	G	A	75797371	4	1	194	1	0	0	0	0	0	1	0	0	3669	1124	39	1	96	1	COL12A1	6	75797371	Nonsense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	18877884	75797371	95317696	65	106988											
TTK	7272	broad.mit.edu	37	chr6	80745071	80745071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagaaaaaatccattgatCcatgggaacgcaagagttac	8	7	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:80745071C>T	uc003pjc.2	+	16	1935	c.1861C>T	c.(1861-1863)CCA>TCA	p.P621S	TTK_uc003pjb.3_Missense_Mutation_p.P620S	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	621	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	p.T621R(1)		ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		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)		ATCCATTGATCCATGGGAACG	0.328													T	80745071	C	T	80745071	3	4	194	1	0	0	0	0	1	0	0	0	16717	855	30	4	1919	4	TTK	6	80745071	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	4947700	80745071	90369996	66	106989											
CYB5R4	51167	broad.mit.edu	37	chr6	84646074	84646074	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccactggactcttcacaccaGagcttgatcgtcttcagatt	7	13	4	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:84646074G>C	uc003pkf.2	+	12	1219	c.1087G>C	c.(1087-1089)GAG>CAG	p.E363Q		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	363	FAD-binding FR-type.				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(2)	2		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)		CTTCACACCAGAGCTTGATCG	0.259													C	84646074	G	C	84646074	3	2	194	1	0	0	0	0	1	0	0	0	4129	943	33	5	1133	5	CYB5R4	6	84646074	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	3901003	84646074	86468993	67	106990											
NCOA7	135112	broad.mit.edu	37	chr6	126249822	126249822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgctgatttataccacGgacgaagcaactcttgcagc	9	10	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:126249822G>A	uc010kes.2	+	18	3183	c.2734G>A	c.(2734-2736)GGA>AGA	p.G912R	NCOA7_uc003qae.3_Missense_Mutation_p.G912R|NCOA7_uc003qah.2_Missense_Mutation_p.G901R|NCOA7_uc003qai.2_Missense_Mutation_p.G912R|NCOA7_uc010ket.2_Missense_Mutation_p.G797R|NCOA7_uc003qak.2_Missense_Mutation_p.G189R	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	912	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTATACCACGGACGAAGCAA	0.358													A	126249822	G	A	126249822	3	1	194	1	0	0	0	0	1	0	0	0	10234	1117	39	1	2792	1	NCOA7	6	126249822	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	41603748	126249822	44865245	68	106991											
PERP	64065	broad.mit.edu	37	chr6	138413398	138413398	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	attaccagggagatgatctgGaacacagctaaagggaagaa	12	6	1	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:138413398G>C	uc003qht.2	-	3	546	c.363C>G	c.(361-363)TTC>TTG	p.F121L		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	121	Helical; (Potential).				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		AGATGATCTGGAACACAGCTA	0.453													C	138413398	G	C	138413398	3	2	194	1	0	0	0	0	1	0	0	0	11732	1165	41	5	222	5	PERP	6	138413398	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	12163576	138413398	32701669	69	106992											
SNX9	51429	broad.mit.edu	37	chr6	158296134	158296134	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtggaaattcagtggctGaccaagccttccttgattct	9	10	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:158296134G>A	uc003qqv.1	+	4	399	c.226G>A	c.(226-228)GAC>AAC	p.D76N		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	76					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				0		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)		TTCAGTGGCTGACCAAGCCTT	0.463													A	158296134	G	A	158296134	3	1	194	1	0	0	0	0	1	0	0	0	14909	1290	45	4	240	4	SNX9	6	158296134	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	19882736	158296134	12818933	70	106993											
IGF2R	3482	broad.mit.edu	37	chr6	160526045	160526045	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtccagctctgcacagCagaagacagtgagctccacc	11	13	1	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr6:160526045C>T	uc003qta.2	+	48	7553	c.7405C>T	c.(7405-7407)CAG>TAG	p.Q2469*		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2469	Cytoplasmic (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTCTGCACAGCAGAAGACAGT	0.597													T	160526045	C	T	160526045	4	4	194	1	0	0	0	0	0	1	0	0	7576	711	25	2	7595	2	IGF2R	6	160526045	Nonsense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	2229911	160526045	10589022	71	106994											
DNAH11	8701	broad.mit.edu	37	chr7	21598554	21598554	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaatgtctagaagaacTcttctaccaattcccactgt	6	11	3	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:21598554T>G	uc003svc.2	+	3	661	c.630T>G	c.(628-630)ACT>ACG	p.T210T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	210	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTAGAAGAACTCTTCTACCAA	0.348									Kartagener_syndrome				G	21598554	T	G	21598554	2	3	194	1	0	0	0	0	0	0	0	1	4599	1538	54	5		5	DNAH11	7	21598554	Silent	SNP	T	TCGA-CG-5727-01A-11D-1600-08		21598554	137540109	72	106995											
TRIM50	135892	broad.mit.edu	37	chr7	72734221	72734221	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctcctgcttcagctcagaGatgagggctgcgagctcctc	12	13	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:72734221G>T	uc010lbd.1	-	3	545	c.420C>A	c.(418-420)ATC>ATA	p.I140I	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.I140I|TRIM50_uc003txz.1_Silent_p.I140I	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	140	Potential.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			skin(1)	1						TCAGCTCAGAGATGAGGGCTG	0.587													T	72734221	G	T	72734221	2	4	194	1	0	0	0	0	0	0	0	1	16523	932	33	5		5	TRIM50	7	72734221	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	51135667	72734221	86404442	73	106996											
PCLO	27445	broad.mit.edu	37	chr7	82544530	82544530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctgtgccaagagaagAtcccataaatttttgttggt	9	8	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:82544530A>G	uc003uhx.2	-	7	13061	c.12772T>C	c.(12772-12774)TCT>CCT	p.S4258P	PCLO_uc003uhv.2_Missense_Mutation_p.S4258P|PCLO_uc010lec.2_Missense_Mutation_p.S1223P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4189					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCAAGAGAAGATCCCATAAAT	0.438													G	82544530	A	G	82544530	3	3	194	1	0	0	0	0	1	0	0	0	11583	333	12	3	2749	3	PCLO	7	82544530	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	9810309	82544530	76594133	74	106997											
ABCB4	5244	broad.mit.edu	37	chr7	87074291	87074291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattaggattgaaaaaaaaaCctgagcaaaataacatgagg	8	4	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:87074291C>A	uc003uiv.1	-	10	1082	c.1006G>T	c.(1006-1008)GTT>TTT	p.V336F	ABCB4_uc003uiw.1_Missense_Mutation_p.V336F|ABCB4_uc003uix.1_Missense_Mutation_p.V336F	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	336	Helical; (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAAAAAAAAACCTGAGCAAAA	0.353													A	87074291	C	A	87074291	3	1	194	1	0	0	0	0	1	0	0	0	43	521	18	5	2930	5	ABCB4	7	87074291	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	4529761	87074291	72064372	75	106998											
ABCB1	5243	broad.mit.edu	37	chr7	87174159	87174159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctctttggtactaaGctttctgtcttgggcttgtg	11	9	3	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:87174159G>A	uc003uiz.1	-	17	2462	c.2044C>T	c.(2044-2046)CTT>TTT	p.L682F	ABCB1_uc011khc.1_Missense_Mutation_p.L618F	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	682	Cytoplasmic (Potential).				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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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)	TTGGTACTAAGCTTTCTGTCT	0.443													A	87174159	G	A	87174159	3	1	194	1	0	0	0	0	1	0	0	0	40	971	34	2	1850	2	ABCB1	7	87174159	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	99868	87174159	71964504	76	106999											
KCND2	3751	broad.mit.edu	37	chr7	120387763	120387763	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttaaatgccaaaatggaaGagtgtgttaaactaaactgt	9	4	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:120387763G>T	uc003vjj.1	+	6	2709	c.1744G>T	c.(1744-1746)GAG>TAG	p.E582*		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	582	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					CAAAATGGAAGAGTGTGTTAA	0.353													T	120387763	G	T	120387763	4	4	194	1	0	0	0	0	0	1	0	0	8019	943	33	5	1766	5	KCND2	7	120387763	Nonsense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	33213604	120387763	38750900	77	107000											
SMO	6608	broad.mit.edu	37	chr7	128846389	128846389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcgtgctggccccaatcGgcctggtgctcatcgtggga	14	13	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:128846389G>A	uc003vor.2	+	6	1505	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	SMO_uc003vos.2_Missense_Mutation_p.G84S	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	409	Helical; Name=5; (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GGCCCCAATCGGCCTGGTGCT	0.577			Mis		skin basal cell 								A	128846389	G	A	128846389	3	1	194	1	0	0	0	0	1	0	0	0	14800	1116	39	1	1247	1	SMO	7	128846389	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	8458626	128846389	30292274	78	107001											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844745	147844745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctaccgcagcagatccGcaaggccccaacagaaggcc	11	17	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:147844745G>A	uc003weu.1	+	17	3233	c.2717G>A	c.(2716-2718)CGC>CAC	p.R906H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	906	Laminin G-like 3.|Extracellular (Potential).		R -> H.		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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			CAGCAGATCCGCAAGGCCCCA	0.557										HNSCC(39;0.1)			A	147844745	G	A	147844745	3	1	194	1	0	0	0	0	1	0	0	0	3647	1087	38	1	2783	1	CNTNAP2	7	147844745	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	18998356	147844745	11293918	79	107002											
ZNF746	155061	broad.mit.edu	37	chr7	149191094	149191094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacccagggagaccagcGtctcgtagttgcccctcatc	9	16	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr7:149191094G>A	uc003wfw.2	-	3	663	c.392C>T	c.(391-393)ACG>ATG	p.T131M	ZNF746_uc010lpi.2_Missense_Mutation_p.T131M	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	131	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			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAGACCAGCGTCTCGTAGTT	0.507													A	149191094	G	A	149191094	3	1	194	1	0	0	0	0	1	0	0	0	18126	1145	40	1	1565	1	ZNF746	7	149191094	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	1346349	149191094	9947569	80	107003											
TUSC3	7991	broad.mit.edu	37	chr8	15601095	15601095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctaaatgaagcagcaacttCgaaaggcgatgttggaaaaa	10	6	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr8:15601095C>T	uc003wwt.2	+	8	1121	c.911C>T	c.(910-912)TCG>TTG	p.S304L	TUSC3_uc003wwu.2_Missense_Mutation_p.S304L|TUSC3_uc003wwv.2_Missense_Mutation_p.S304L|TUSC3_uc003www.2_Missense_Mutation_p.S304L|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_3'UTR	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	304					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GCAGCAACTTCGAAAGGCGAT	0.378													T	15601095	C	T	15601095	3	4	194	1	0	0	0	0	1	0	0	0	16775	893	31	1	941	1	TUSC3	8	15601095	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08		15601095	130762927	81	107004											
SULF1	23213	broad.mit.edu	37	chr8	70512983	70512983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcagtggatgattctgtgGagagggtaagcacatgaacc	14	6	2	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr8:70512983G>A	uc010lza.1	+	9	1597	c.880G>A	c.(880-882)GAG>AAG	p.E294K	SULF1_uc003xyd.2_Missense_Mutation_p.E294K|SULF1_uc003xye.2_Missense_Mutation_p.E294K|SULF1_uc003xyf.2_Missense_Mutation_p.E294K|SULF1_uc003xyg.2_Missense_Mutation_p.E294K|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGATTCTGTGGAGAGGGTAAG	0.443													A	70512983	G	A	70512983	3	1	194	1	0	0	0	0	1	0	0	0	15369	1175	41	4	898	4	SULF1	8	70512983	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	54911888	70512983	75851039	82	107005											
LRP12	29967	broad.mit.edu	37	chr8	105509670	105509670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacagaacccatctacTtggtaagtagcattaaatcc	7	10	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr8:105509670T>G	uc003yma.2	-	5	1205	c.1110A>C	c.(1108-1110)CAA>CAC	p.Q370H	LRP12_uc003ymb.2_Missense_Mutation_p.Q351H|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	370	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCCATCTACTTGGTAAGTAG	0.448													G	105509670	T	G	105509670	3	3	194	1	0	0	0	0	1	0	0	0	8954	1606	56	5	1481	5	LRP12	8	105509670	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	34996687	105509670	40854352	83	107006											
CSMD3	114788	broad.mit.edu	37	chr8	113392635	113392635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgatgtctgattgaaaatTtagatacagattattagacg	8	4	1	6			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr8:113392635T>G	uc003ynu.2	-	38	6241	c.6082A>C	c.(6082-6084)AAT>CAT	p.N2028H	CSMD3_uc003yns.2_Missense_Mutation_p.N1230H|CSMD3_uc003ynt.2_Missense_Mutation_p.N1988H|CSMD3_uc011lhx.1_Missense_Mutation_p.N1924H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2028	Extracellular (Potential).|CUB 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATTGAAAATTTAGATACAGA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113392635	T	G	113392635	3	3	194	1	0	0	0	0	1	0	0	0	3946	1841	64	5	5177	5	CSMD3	8	113392635	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	7882965	113392635	32971387	84	107007											
SVEP1	79987	broad.mit.edu	37	chr9	113234518	113234518	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgaggacttggcattgccGatgcttgtggctgtttcttg	14	8	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr9:113234518G>A	uc010mtz.2	-	15	3022	c.2685C>T	c.(2683-2685)ATC>ATT	p.I895I	SVEP1_uc010mua.1_Silent_p.I895I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	895					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGGCATTGCCGATGCTTGTGG	0.443													A	113234518	G	A	113234518	2	1	194	1	0	0	0	0	0	0	0	1	15417	1048	37	1		1	SVEP1	9	113234518	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08		113234518	27978913	85	107008											
PAPPA	5069	broad.mit.edu	37	chr9	119097300	119097300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcgacaactttgacccCgtcaccctgagcagctgcca	7	17	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr9:119097300C>T	uc004bjn.2	+	13	3939	c.3558C>T	c.(3556-3558)CCC>CCT	p.P1186P	PAPPA_uc011lxp.1_Silent_p.P881P|PAPPA_uc011lxq.1_Silent_p.P561P	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1186					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						ACTTTGACCCCGTCACCCTGA	0.647													T	119097300	C	T	119097300	2	4	194	1	0	0	0	0	0	0	0	1	11432	639	23	1		1	PAPPA	9	119097300	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	5862782	119097300	22116131	86	107009											
PRRX2	51450	broad.mit.edu	37	chr9	132484623	132484623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accacagccaggtgcctacgGtgaactgaagtccagtccca	10	14	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr9:132484623G>T	uc004byh.2	+	4	981	c.754G>T	c.(754-756)GTG>TTG	p.V252L		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	252						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)				GGTGCCTACGGTGAACTGAAG	0.622													T	132484623	G	T	132484623	3	4	194	1	0	0	0	0	1	0	0	0	12613	1261	44	5	768	5	PRRX2	9	132484623	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	13387323	132484623	8728808	87	107010											
LAMC3	10319	broad.mit.edu	37	chr9	133963174	133963174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcactggagaaggacatcGagaccttgtcagagctgctt	11	10	2	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr9:133963174G>A	uc004caa.1	+	27	4545	c.4447G>A	c.(4447-4449)GAG>AAG	p.E1483K	LAMC3_uc010mze.1_Missense_Mutation_p.E171K	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1483	Domain II and I.|Potential.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAAGGACATCGAGACCTTGTC	0.602													A	133963174	G	A	133963174	3	1	194	1	0	0	0	0	1	0	0	0	8616	1059	37	1	4553	1	LAMC3	9	133963174	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	1478551	133963174	7250257	88	107011											
CACNA1B	774	broad.mit.edu	37	chr9	141016271	141016271	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgaggacactctcactttCgaggaggctgtggccaccaa	11	13	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr9:141016271C>T	uc004cog.2	+	46	6985	c.6840C>T	c.(6838-6840)TTC>TTT	p.F2280F	CACNA1B_uc004coi.2_Silent_p.F1492F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2280	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCTCACTTTCGAGGAGGCTG	0.652													T	141016271	C	T	141016271	2	4	194	1	0	0	0	0	0	0	0	1	2539	883	31	1		1	CACNA1B	9	141016271	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	7053097	141016271	197160	89	107012											
SLC39A12	221074	broad.mit.edu	37	chr10	18250745	18250745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagaatgagacagaagAtatcttggctttcaccaggc	9	9	3	4			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr10:18250745A>G	uc001ipo.2	+	3	770	c.497A>G	c.(496-498)GAT>GGT	p.D166G	SLC39A12_uc001ipn.2_Missense_Mutation_p.D166G|SLC39A12_uc001ipp.2_Missense_Mutation_p.D166G|SLC39A12_uc010qck.1_Missense_Mutation_p.D32G	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	166	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						GAGACAGAAGATATCTTGGCT	0.423													G	18250745	A	G	18250745	3	3	194	1	0	0	0	0	1	0	0	0	14615	333	12	3	503	3	SLC39A12	10	18250745	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08		18250745	117284002	90	107013											
ZEB1	6935	broad.mit.edu	37	chr10	31812911	31812911	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtatcaaatgtagaggatcaGaatgactctgattctacacc	8	8	4	4			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr10:31812911G>C	uc001ivs.3	+	8	2715	c.2652G>C	c.(2650-2652)CAG>CAC	p.Q884H	ZEB1_uc001ivr.3_Missense_Mutation_p.Q666H|ZEB1_uc010qee.1_Missense_Mutation_p.Q666H|ZEB1_uc010qef.1_Missense_Mutation_p.Q666H|ZEB1_uc009xlk.1_Missense_Mutation_p.Q666H|ZEB1_uc001ivt.3_Missense_Mutation_p.Q666H|ZEB1_uc001ivu.3_Missense_Mutation_p.Q885H|ZEB1_uc001ivv.3_Missense_Mutation_p.Q864H|ZEB1_uc010qeh.1_Missense_Mutation_p.Q817H|ZEB1_uc009xlp.2_Missense_Mutation_p.Q868H	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	884					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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TAGAGGATCAGAATGACTCTG	0.358													C	31812911	G	C	31812911	3	2	194	1	0	0	0	0	1	0	0	0	17620	933	33	5	2696	5	ZEB1	10	31812911	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	13562166	31812911	103721836	91	107014											
PRKG1	5592	broad.mit.edu	37	chr10	53893600	53893600	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctatttttcacatagGgaagatgtgagaacagcaaa	9	6	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr10:53893600G>T	uc001jjm.2	+	8	1085	c.891G>T	c.(889-891)GGG>GGT	p.G297G	PRKG1_uc001jjo.2_Silent_p.G312G|PRKG1_uc009xow.1_Missense_Mutation_p.R15S	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	297	cGMP 2.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		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)		TTTCACATAGGGAAGATGTGA	0.318													T	53893600	G	T	53893600	2	4	194	1	0	0	0	0	0	0	0	1	12522	1246	43	5		5	PRKG1	10	53893600	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	22080689	53893600	81641147	92	107015											
PCDH15	65217	broad.mit.edu	37	chr10	55663110	55663110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttcatcctgaatctcaaTgtatactttagctgtattgc	5	8	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr10:55663110T>C	uc001jju.1	-	26	3789	c.3394A>G	c.(3394-3396)ATT>GTT	p.I1132V	PCDH15_uc010qhq.1_Missense_Mutation_p.I1137V|PCDH15_uc010qhr.1_Missense_Mutation_p.I1132V|PCDH15_uc010qhs.1_Missense_Mutation_p.I1144V|PCDH15_uc010qht.1_Missense_Mutation_p.I1139V|PCDH15_uc010qhu.1_Missense_Mutation_p.I1132V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.I1132V|PCDH15_uc010qhw.1_Missense_Mutation_p.I1095V|PCDH15_uc010qhx.1_Missense_Mutation_p.I1061V|PCDH15_uc010qhy.1_Missense_Mutation_p.I1137V|PCDH15_uc010qhz.1_Missense_Mutation_p.I1132V|PCDH15_uc010qia.1_Missense_Mutation_p.I1110V|PCDH15_uc010qib.1_Missense_Mutation_p.I1110V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1132	Cadherin 10.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAATCTCAATGTATACTTTA	0.368										HNSCC(58;0.16)			C	55663110	T	C	55663110	3	2	194	1	0	0	0	0	1	0	0	0	11511	1464	51	3	4124	3	PCDH15	10	55663110	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	1769510	55663110	79871637	93	107016											
BICC1	80114	broad.mit.edu	37	chr10	60556153	60556153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaaatatgtatgaagcaagGaaatgtctcctcggacttga	9	6	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr10:60556153G>T	uc001jki.1	+	10	1233	c.1233G>T	c.(1231-1233)AGG>AGT	p.R411S	BICC1_uc001jkj.1_Missense_Mutation_p.R52S	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	411					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						ATGAAGCAAGGAAATGTCTCC	0.473													T	60556153	G	T	60556153	3	4	194	1	0	0	0	0	1	0	0	0	1427	1165	41	5	1271	5	BICC1	10	60556153	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	4893043	60556153	74978594	94	107017											
HERC4	26091	broad.mit.edu	37	chr10	69700775	69700775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttatataaagccaaagGaaaatggaggtccacaatgg	9	6	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr10:69700775G>A	uc001jng.3	-	21	2760	c.2449C>T	c.(2449-2451)CCT>TCT	p.P817S	HERC4_uc009xpq.2_Missense_Mutation_p.P350S|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.P809S|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.P553S	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	817	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						AAAGCCAAAGGAAAATGGAGG	0.338													A	69700775	G	A	69700775	3	1	194	1	0	0	0	0	1	0	0	0	7060	1174	41	4	748	4	HERC4	10	69700775	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	9144622	69700775	65833972	95	107018											
ABCC8	6833	broad.mit.edu	37	chr11	17450207	17450207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggacaggaactcgcttaGcttttgcacgctgctcggga	12	11	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:17450207G>A	uc001mnc.2	-	13	1954	c.1828C>T	c.(1828-1830)CTA>TTA	p.L610L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	610	Cytoplasmic (By similarity).				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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AACTCGCTTAGCTTTTGCACG	0.642													A	17450207	G	A	17450207	2	1	194	1	0	0	0	0	0	0	0	1	58	962	34	2		2	ABCC8	11	17450207	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08		17450207	117556309	96	107019											
ABCC8	6833	broad.mit.edu	37	chr11	17482049	17482049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctaccttgggctggaagaCgtcgttctccttcccaaggt	11	13	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:17482049C>T	uc001mnc.2	-	6	1123	c.997G>A	c.(997-999)GTC>ATC	p.V333I	ABCC8_uc010rcy.1_Missense_Mutation_p.V332I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	333	Extracellular (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTGGAAGACGTCGTTCTCC	0.587													T	17482049	C	T	17482049	3	4	194	1	0	0	0	0	1	0	0	0	58	536	19	1	3884	1	ABCC8	11	17482049	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	31842	17482049	117524467	97	107020											
DBX1	120237	broad.mit.edu	37	chr11	20180794	20180794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcgaagtagggaaaggCgaaggtcttgggagggacgc	17	8	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:20180794C>T	uc001mpw.1	-	2	412	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	138					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TAGGGAAAGGCGAAGGTCTTG	0.567													T	20180794	C	T	20180794	3	4	194	1	0	0	0	0	1	0	0	0	4259	768	27	1	748	1	DBX1	11	20180794	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	2698745	20180794	114825722	98	107021											
ANO3	63982	broad.mit.edu	37	chr11	26538454	26538454	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcaagtatgcagagaggctGaatatcaggatgcccttcag	12	8	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:26538454G>A	uc001mqt.3	+	6	817	c.672G>A	c.(670-672)CTG>CTA	p.L224L	ANO3_uc010rdr.1_Silent_p.L208L|ANO3_uc010rds.1_Silent_p.L78L|ANO3_uc010rdt.1_Silent_p.L78L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	224	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAGAGAGGCTGAATATCAGGA	0.358													A	26538454	G	A	26538454	2	1	194	1	0	0	0	0	0	0	0	1	698	1277	45	4		4	ANO3	11	26538454	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	6357660	26538454	108468062	99	107022											
AGBL2	79841	broad.mit.edu	37	chr11	47681771	47681771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggtatgccgccatggcaGcacagcctctctttgtggca	12	12	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:47681771G>A	uc001ngg.2	-	18	2763	c.2663C>T	c.(2662-2664)GCT>GTT	p.A888V	AGBL2_uc001ngf.2_RNA	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	888					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						CGCCATGGCAGCACAGCCTCT	0.527													A	47681771	G	A	47681771	3	1	194	1	0	0	0	0	1	0	0	0	376	971	34	2	49	2	AGBL2	11	47681771	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	21143317	47681771	87324745	100	107023											
PTPRJ	5795	broad.mit.edu	37	chr11	48177607	48177607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttgaaagatttttggcGtatggtttgggagaaaaatg	12	3	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:48177607G>A	uc001ngp.3	+	21	3729	c.3374G>A	c.(3373-3375)CGT>CAT	p.R1125H		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1125	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				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)|kidney(3)|ovary(1)|skin(1)	8						GATTTTTGGCGTATGGTTTGG	0.333													A	48177607	G	A	48177607	3	1	194	1	0	0	0	0	1	0	0	0	12804	1145	40	1	3465	1	PTPRJ	11	48177607	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	495836	48177607	86828909	101	107024											
OR8J3	81168	broad.mit.edu	37	chr11	55904988	55904988	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtagagttgccaagattGatgatagctagatgtctcag	11	6	1	5			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:55904988G>T	uc010riz.1	-	1	207	c.207C>A	c.(205-207)ATC>ATA	p.I69I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TGCCAAGATTGATGATAGCTA	0.448													T	55904988	G	T	55904988	2	4	194	1	0	0	0	0	0	0	0	1	11242	1280	45	5		5	OR8J3	11	55904988	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	7727381	55904988	79101528	102	107025											
OR5T1	390155	broad.mit.edu	37	chr11	56043418	56043418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttcctggcaaaaaatAaatctatttcatttcttgga	4	7	4	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:56043418A>G	uc001nio.1	+	1	304	c.304A>G	c.(304-306)AAA>GAA	p.K102E		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					GGCAAAAAATAAATCTATTTC	0.373													G	56043418	A	G	56043418	3	3	194	1	0	0	0	0	1	0	0	0	11181	363	13	3	306	3	OR5T1	11	56043418	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	138430	56043418	78963098	103	107026											
ACTN3	89	broad.mit.edu	37	chr11	66330604	66330604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaagggatccggggccccGgctggagccctggactacgt	15	13	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:66330604G>A	uc001oio.1	+	22	2664	c.2646G>A	c.(2644-2646)CCG>CCA	p.P882P	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	882					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				0						CCGGGGCCCCGGCTGGAGCCC	0.627													A	66330604	G	A	66330604	2	1	194	1	0	0	0	0	0	0	0	1	206	1103	39	1		1	ACTN3	11	66330604	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	10287186	66330604	68675912	104	107027											
DLG2	1740	broad.mit.edu	37	chr11	83182758	83182758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaggataatcaccggcCgggtgtagtttactgcagaa	12	11	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:83182758C>T	uc001paj.2	-	19	2345	c.2042G>A	c.(2041-2043)CGG>CAG	p.R681Q	DLG2_uc001pai.2_Missense_Mutation_p.R560Q|DLG2_uc010rsy.1_Missense_Mutation_p.R630Q|DLG2_uc010rsz.1_Missense_Mutation_p.R677Q|DLG2_uc010rta.1_Missense_Mutation_p.R663Q|DLG2_uc001pak.2_Missense_Mutation_p.R786Q|DLG2_uc010rtb.1_Missense_Mutation_p.R648Q|DLG2_uc010rsw.1_Missense_Mutation_p.R145Q|DLG2_uc010rsx.1_Missense_Mutation_p.R158Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	681	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCACCGGCCGGGTGTAGTT	0.453													T	83182758	C	T	83182758	3	4	194	1	0	0	0	0	1	0	0	0	4555	652	23	1	590	1	DLG2	11	83182758	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	16852154	83182758	51823758	105	107028											
ANKRD49	54851	broad.mit.edu	37	chr11	94231299	94231299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacactagggatgaagaTgagtatacccctcttcatcg	10	9	2	4			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:94231299T>C	uc001pew.2	+	3	460	c.321T>C	c.(319-321)GAT>GAC	p.D107D	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	107	ANK 2.				positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGATGAAGATGAGTATACCC	0.463													C	94231299	T	C	94231299	2	2	194	1	0	0	0	0	0	0	0	1	675	1461	51	3		3	ANKRD49	11	94231299	Silent	SNP	T	TCGA-CG-5727-01A-11D-1600-08	11048541	94231299	40775217	106	107029											
C11orf87	399947	broad.mit.edu	37	chr11	109294891	109294891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtccccaaggagcacacGcagcttcctcctgtttggac	9	16	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:109294891G>A	uc001pkn.2	+	2	906	c.532G>A	c.(532-534)GCA>ACA	p.A178T	C11orf87_uc010rwb.1_RNA	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	178	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2						AGGAGCACACGCAGCTTCCTC	0.642													A	109294891	G	A	109294891	3	1	194	1	0	0	0	0	1	0	0	0	1669	1087	38	1	534	1	C11orf87	11	109294891	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	15063592	109294891	25711625	107	107030											
CLDN25	644672	broad.mit.edu	37	chr11	113650534	113650534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactatggcctggagtttccGtgcaaaagtccagctcgggg	14	10	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr11:113650534G>A	uc009yyw.1	+	1	17	c.17G>A	c.(16-18)CGT>CAT	p.R6H		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	6	Cytoplasmic (Potential).					integral to membrane|tight junction	structural molecule activity				0						TGGAGTTTCCGTGCAAAAGTC	0.542													A	113650534	G	A	113650534	3	1	194	1	0	0	0	0	1	0	0	0	3485	1145	40	1	19	1	CLDN25	11	113650534	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	4355643	113650534	21355982	108	107031											
VWF	7450	broad.mit.edu	37	chr12	6103071	6103071	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaacgcagaccccgttggtCcgacagaggtgggcataaga	13	11	1	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:6103071C>A	uc001qnn.1	-	37	6805	c.6555G>T	c.(6553-6555)CGG>CGT	p.R2185R	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2185					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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCCCGTTGGTCCGACAGAGGT	0.517													A	6103071	C	A	6103071	2	1	194	1	0	0	0	0	0	0	0	1	17243	842	30	5		5	VWF	12	6103071	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08		6103071	127748824	109	107032											
SLC2A3	6515	broad.mit.edu	37	chr12	8077053	8077053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaacaaaaagccatccCtccaaggcctatcatatgca	7	13	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:8077053C>A	uc001qtr.2	-	8	1283	c.1021G>T	c.(1021-1023)GGG>TGG	p.G341W		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	341	Helical; Name=9; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		AAAGCCATCCCTCCAAGGCCT	0.428													A	8077053	C	A	8077053	3	1	194	1	0	0	0	0	1	0	0	0	14545	681	24	5	481	5	SLC2A3	12	8077053	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	1973982	8077053	125774842	110	107033											
TAS2R13	50838	broad.mit.edu	37	chr12	11060990	11060990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaattgtgagtttctcatCgtttagcccataccttagct	7	9	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:11060990C>T	uc001qzg.1	-	1	1172	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	303	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2						AGTTTCTCATCGTTTAGCCCA	0.398													T	11060990	C	T	11060990	3	4	194	1	0	0	0	0	1	0	0	0	15564	884	31	1	7	1	TAS2R13	12	11060990	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	2983937	11060990	122790905	111	107034											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	194	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	14337294	25398284	108453611	112	107035											
BICD1	636	broad.mit.edu	37	chr12	32458680	32458680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagcgatttgaggaggagaCggtactgctgaacagccagc	14	8	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:32458680C>A	uc001rku.2	+	4	710	c.629C>A	c.(628-630)ACG>AAG	p.T210K	BICD1_uc001rkv.2_Missense_Mutation_p.T210K|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	210	Potential.				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			large_intestine(1)|central_nervous_system(1)	2	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)			GAGGAGGAGACGGTACTGCTG	0.418													A	32458680	C	A	32458680	3	1	194	1	0	0	0	0	1	0	0	0	1428	536	19	5	643	5	BICD1	12	32458680	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	7060396	32458680	101393215	113	107036											
KRT84	3890	broad.mit.edu	37	chr12	52775182	52775182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagcatcagcccggctgCgcctggccacctcctcatac	8	20	3	0	rs146876431		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:52775182C>T	uc001sah.1	-	5	1088	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	347	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCGGCTGCGCCTGGCCAC	0.562													T	52775182	C	T	52775182	3	4	194	1	0	0	0	0	1	0	0	0	8498	768	27	1	782	1	KRT84	12	52775182	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	20316502	52775182	81076713	114	107037											
KRT2	3849	broad.mit.edu	37	chr12	53042031	53042031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactgggccttgacctcggCgatgatgctatccaagtcca	10	12	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:53042031C>T	uc001sat.2	-	5	1081	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	350	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTGACCTCGGCGATGATGCTA	0.537													T	53042031	C	T	53042031	3	4	194	1	0	0	0	0	1	0	0	0	8457	768	27	1	891	1	KRT2	12	53042031	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	266849	53042031	80809864	115	107038											
NPFF	8620	broad.mit.edu	37	chr12	53900562	53900562	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatcaagggatgacatgtcActtcttcccaaagcgttgag	9	9	3	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:53900562A>T	uc001sdw.1	-	3	504	c.340T>A	c.(340-342)TGA>AGA	p.*114R		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	114					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0						ATGACATGTCACTTCTTCCCA	0.527													T	53900562	A	T	53900562	4	4	194	1	0	0	0	0	0	0	0	0	10576	172	6	5	5	5	NPFF	12	53900562	Nonstop_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	858531	53900562	79951333	116	107039											
ITGA5	3678	broad.mit.edu	37	chr12	54790125	54790125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgagctttttccatggcGgtgccatatgggagggagcg	16	8	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:54790125G>A	uc001sga.2	-	30	3170	c.3102C>T	c.(3100-3102)ACC>ACT	p.T1034T		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	1034	Cytoplasmic (Potential).				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			ovary(2)	2						TTTCCATGGCGGTGCCATATG	0.517													A	54790125	G	A	54790125	2	1	194	1	0	0	0	0	0	0	0	1	7879	1103	39	1		1	ITGA5	12	54790125	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	889563	54790125	79061770	117	107040											
NAV3	89795	broad.mit.edu	37	chr12	78594292	78594292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccatggatgtagaagGttctagagtatggttcatgg	13	6	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:78594292G>A	uc001syp.2	+	38	6928	c.6755G>A	c.(6754-6756)GGT>GAT	p.G2252D	NAV3_uc001syo.2_Missense_Mutation_p.G2230D|NAV3_uc010sub.1_Missense_Mutation_p.G1709D|NAV3_uc009zsf.2_Missense_Mutation_p.G1061D	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2252						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GATGTAGAAGGTTCTAGAGTA	0.348										HNSCC(70;0.22)			A	78594292	G	A	78594292	3	1	194	1	0	0	0	0	1	0	0	0	10185	1261	44	4	6835	4	NAV3	12	78594292	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	23804167	78594292	55257603	118	107041											
GAS2L3	283431	broad.mit.edu	37	chr12	101017746	101017746	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcccaagctcaagtcttCaaaaggcataacgaagaaac	6	11	4	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:101017746C>T	uc001thu.2	+	10	1389	c.1163C>T	c.(1162-1164)TCA>TTA	p.S388L	GAS2L3_uc009zty.2_Missense_Mutation_p.S388L|GAS2L3_uc001thv.2_Missense_Mutation_p.S284L	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	388					cell cycle arrest					skin(1)	1						CTCAAGTCTTCAAAAGGCATA	0.428													T	101017746	C	T	101017746	3	4	194	1	0	0	0	0	1	0	0	0	6248	838	29	4	1193	4	GAS2L3	12	101017746	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	22423454	101017746	32834149	119	107042											
TCHP	84260	broad.mit.edu	37	chr12	110345342	110345342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgtagcaagaagccacCgcagagcaagagaacaaacg	10	12	0	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:110345342C>T	uc001tpn.2	+	6	690	c.537C>T	c.(535-537)ACC>ACT	p.T179T	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Silent_p.T179T	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	179	Glu-rich.|Interaction with keratin proteins.|Potential.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						AAGAAGCCACCGCAGAGCAAG	0.517													T	110345342	C	T	110345342	2	4	194	1	0	0	0	0	0	0	0	1	15699	639	23	1		1	TCHP	12	110345342	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	9327596	110345342	23506553	120	107043											
EP400	57634	broad.mit.edu	37	chr12	132464291	132464291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggaagcacagtagagaCggacctgtttaagaggcagc	15	9	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr12:132464291C>T	uc001ujn.2	+	2	1423	c.1388C>T	c.(1387-1389)ACG>ATG	p.T463M	EP400_uc001ujl.2_Missense_Mutation_p.T462M|EP400_uc001ujm.2_Missense_Mutation_p.T463M|EP400_uc001ujj.1_Missense_Mutation_p.T462M|EP400_uc001ujk.2_Missense_Mutation_p.T499M	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	499					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		ACAGTAGAGACGGACCTGTTT	0.577													T	132464291	C	T	132464291	3	4	194	1	0	0	0	0	1	0	0	0	5149	536	19	1	1391	1	EP400	12	132464291	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	22118949	132464291	1387604	121	107044											
EDNRB	1910	broad.mit.edu	37	chr13	78492731	78492731	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctacctgctccagaaggcGtccggtggccgctccgcagt	13	15	0	1	rs12868905		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr13:78492731G>A	uc001vko.2	-	1	236	c.-22C>T	c.(-24--20)GACGC>GATGC		uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Translation_Start_Site|EDNRB_uc010aez.1_Translation_Start_Site|EDNRB_uc001vkp.1_Missense_Mutation_p.T76M|EDNRB_uc010afa.1_Translation_Start_Site	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor						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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TCCAGAAGGCGTCCGGTGGCC	0.632											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	78492731	G	A	78492731	1	1	194	1	0	0	0	0	0	0	0	0	4920	1160	40	1		1	EDNRB	13	78492731	Translation_Start_Site	SNP	G	TCGA-CG-5727-01A-11D-1600-08		78492731	36677147	122	107045											
SLITRK6	84189	broad.mit.edu	37	chr13	86369237	86369237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtaaaacttggaggagGttgttatttaaatacaggac	13	3	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr13:86369237G>T	uc001vll.1	-	2	1866	c.1407C>A	c.(1405-1407)AAC>AAA	p.N469K	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	469	Extracellular (Potential).|LRR 10.			N -> H (in Ref. 1).		integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTGGAGGAGGTTGTTATTTA	0.328													T	86369237	G	T	86369237	3	4	194	1	0	0	0	0	1	0	0	0	14747	1252	44	5	1122	5	SLITRK6	13	86369237	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	7876506	86369237	28800641	123	107046											
SLITRK5	26050	broad.mit.edu	37	chr13	88328906	88328906	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatctgacagagaactacatCgctgtcgtgcgcaggacaga	11	10	1	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr13:88328906C>T	uc001vln.2	+	2	1482	c.1263C>T	c.(1261-1263)ATC>ATT	p.I421I	SLITRK5_uc010tic.1_Silent_p.I180I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	421	LRR 7.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGAACTACATCGCTGTCGTGC	0.572													T	88328906	C	T	88328906	2	4	194	1	0	0	0	0	0	0	0	1	14746	874	31	1		1	SLITRK5	13	88328906	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	1959669	88328906	26840972	124	107047											
ADCK1	57143	broad.mit.edu	37	chr14	78374153	78374153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcctatcccaggtcccccGaatccactgggacctgtcca	7	18	0	0	rs140603078		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr14:78374153G>A	uc001xui.2	+	7	848	c.749G>A	c.(748-750)CGA>CAA	p.R250Q	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Missense_Mutation_p.R182Q|ADCK1_uc001xuk.1_Missense_Mutation_p.R124Q	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	257	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CAGGTCCCCCGAATCCACTGG	0.582													A	78374153	G	A	78374153	3	1	194	1	0	0	0	0	1	0	0	0	288	1058	37	1	771	1	ADCK1	14	78374153	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08		78374153	28975387	125	107048											
SERPINA3	12	broad.mit.edu	37	chr14	95088714	95088714	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctgccaaagttttccatCtcgagggactataacctgaa	7	11	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr14:95088714C>T	uc001ydp.2	+	4	1033	c.954C>T	c.(952-954)ATC>ATT	p.I318I	SERPINA3_uc001ydo.3_Silent_p.I343I|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.I318I|SERPINA3_uc001yds.2_Silent_p.I318I|SERPINA3_uc010avg.2_Silent_p.I318I	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	318					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			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGTTTTCCATCTCGAGGGACT	0.502													T	95088714	C	T	95088714	2	4	194	1	0	0	0	0	0	0	0	1	14090	903	32	4		4	SERPINA3	14	95088714	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	16714561	95088714	12260826	126	107049											
TECPR2	9895	broad.mit.edu	37	chr14	102918810	102918810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagtcgcggccctccacGgtgcagctgcctcccgaagc	12	18	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr14:102918810G>A	uc001ylw.1	+	16	3634	c.3486G>A	c.(3484-3486)ACG>ACA	p.T1162T	TECPR2_uc010awl.2_Silent_p.T1162T|TECPR2_uc010txx.1_Silent_p.T325T	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1162							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GGCCCTCCACGGTGCAGCTGC	0.657													A	102918810	G	A	102918810	2	1	194	1	0	0	0	0	0	0	0	1	15741	1103	39	1		1	TECPR2	14	102918810	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	7830096	102918810	4430730	127	107050											
AHNAK2	113146	broad.mit.edu	37	chr14	105415602	105415602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaggccagctccctcGggcacgtggccctccgggag	14	16	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr14:105415602G>A	uc010axc.1	-	7	6306	c.6186C>T	c.(6184-6186)CCC>CCT	p.P2062P	AHNAK2_uc001ypx.2_Silent_p.P1962P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2062						nucleus				ovary(1)	1		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)			CAGCTCCCTCGGGCACGTGGC	0.632													A	105415602	G	A	105415602	2	1	194	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105415602	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	2496792	105415602	1933938	128	107051											
NDN	4692	broad.mit.edu	37	chr15	23931569	23931569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgatttcgcggctggCccgggagccccaaaagaact	13	12	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr15:23931569C>G	uc001ywk.2	-	1	882	c.796G>C	c.(796-798)GCC>CCC	p.A266P		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	266	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		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)		TCGCGGCTGGCCCGGGAGCCC	0.557									Prader-Willi_syndrome				G	23931569	C	G	23931569	3	3	194	1	0	0	0	0	1	0	0	0	10247	739	26	5	173	5	NDN	15	23931569	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08		23931569	78599823	129	107052											
NOX5	79400	broad.mit.edu	37	chr15	69339812	69339812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgcctctgagcatgcCgtgctcatcggggcaggcat	12	12	3	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr15:69339812C>T	uc002ars.1	+	12	1772	c.1752C>T	c.(1750-1752)GCC>GCT	p.A584A	NOX5_uc002arp.1_Silent_p.A566A|NOX5_uc002arq.1_Silent_p.A538A|NOX5_uc010bid.1_Silent_p.A549A|NOX5_uc002arr.1_Silent_p.A556A|NOX5_uc010bie.1_Silent_p.A384A|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	584	Helical; (Potential).				angiogenesis|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|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(1)|pancreas(1)	2						CTGAGCATGCCGTGCTCATCG	0.582													T	69339812	C	T	69339812	2	4	194	1	0	0	0	0	0	0	0	1	10559	639	23	1		1	NOX5	15	69339812	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	45408243	69339812	33191580	130	107053											
C15orf26	161502	broad.mit.edu	37	chr15	81440853	81440853	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgagccatggagcaggcCatgggccttgacacgcagta	13	12	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr15:81440853C>A	uc002bgb.2	+	7	912	c.885C>A	c.(883-885)GCC>GCA	p.A295A		NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	295											0						TGGAGCAGGCCATGGGCCTTG	0.527													A	81440853	C	A	81440853	2	1	194	1	0	0	0	0	0	0	0	1	1787	581	21	5		5	C15orf26	15	81440853	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	12101041	81440853	21090539	131	107054											
ST8SIA2	8128	broad.mit.edu	37	chr15	92988117	92988117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaccacgtcaacgtgcGcactgcatacccctcgctgc	9	17	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr15:92988117G>A	uc002bra.2	+	5	955	c.800G>A	c.(799-801)CGC>CAC	p.R267H	ST8SIA2_uc002brb.2_Missense_Mutation_p.R246H	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	267	Lumenal (Potential).				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				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTCAACGTGCGCACTGCATAC	0.617													A	92988117	G	A	92988117	3	1	194	1	0	0	0	0	1	0	0	0	15231	1087	38	1	818	1	ST8SIA2	15	92988117	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	11547264	92988117	9543275	132	107055											
CHSY1	22856	broad.mit.edu	37	chr15	101717818	101717818	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aacgtcttcaaacctgcctgGacaaccttgttgaaaaggtc	8	11	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr15:101717818G>T	uc002bwt.1	-	4	2667	c.2184C>A	c.(2182-2184)GTC>GTA	p.V728V	CHSY1_uc010usd.1_Silent_p.V456V	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	728	Lumenal (Potential).				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				0	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)			AACCTGCCTGGACAACCTTGT	0.488													T	101717818	G	T	101717818	2	4	194	1	0	0	0	0	0	0	0	1	3412	1161	41	5		5	CHSY1	15	101717818	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	8729701	101717818	813574	133	107056											
ABCA3	21	broad.mit.edu	37	chr16	2329025	2329025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcaggccccgatgtggCgctcagggatgccccggagc	15	16	1	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr16:2329025C>T	uc002cpy.1	-	29	5178	c.4466G>A	c.(4465-4467)CGC>CAC	p.R1489H	ABCA3_uc010bsk.1_Missense_Mutation_p.R1431H	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1489	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CCCGATGTGGCGCTCAGGGAT	0.652													T	2329025	C	T	2329025	3	4	194	1	0	0	0	0	1	0	0	0	33	768	27	1	668	1	ABCA3	16	2329025	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08		2329025	88025728	134	107057											
VASN	114990	broad.mit.edu	37	chr16	4431585	4431585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgagtgccacctgtgatccGaggcctccggggcctgacgc	15	15	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr16:4431585G>A	uc002cwj.1	+	2	862	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	236	Extracellular (Potential).|LRR 8.					extracellular region|integral to membrane					0						CCTGTGATCCGAGGCCTCCGG	0.711													A	4431585	G	A	4431585	3	1	194	1	0	0	0	0	1	0	0	0	17124	1058	37	1	709	1	VASN	16	4431585	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	2102560	4431585	85923168	135	107058											
CES7	221223	broad.mit.edu	37	chr16	55883653	55883653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcactgaggccggtgccGaaactcatagaagtagacag	12	9	1	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr16:55883653G>A	uc002eip.2	-	11	1455	c.1306C>T	c.(1306-1308)CGG>TGG	p.R436W	CES7_uc002eio.2_Intron|CES7_uc002eiq.2_Missense_Mutation_p.R197W|CES7_uc002eir.2_Missense_Mutation_p.R330W	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	436						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GGCCGGTGCCGAAACTCATAG	0.572													A	55883653	G	A	55883653	3	1	194	1	0	0	0	0	1	0	0	0	3272	1057	37	1	433	1	CES7	16	55883653	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	51452068	55883653	34471100	136	107059											
SPG7	6687	broad.mit.edu	37	chr16	89623299	89623299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgttctttctagctggCaaacgcccttctggaaaagg	10	11	3	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr16:89623299C>T	uc002fnj.2	+	17	2207	c.2186C>T	c.(2185-2187)GCA>GTA	p.A729V	SPG7_uc002fnl.2_Missense_Mutation_p.A138V	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	729	Mitochondrial matrix (Potential).				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				0		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)		TTCTAGCTGGCAAACGCCCTT	0.562													T	89623299	C	T	89623299	3	4	194	1	0	0	0	0	1	0	0	0	15043	710	25	2	2402	2	SPG7	16	89623299	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	33739646	89623299	731454	137	107060											
SLC43A2	124935	broad.mit.edu	37	chr17	1478995	1478995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccagctggcgccggTagcagatcaggtagagcggg	17	12	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr17:1478995T>C	uc002fsv.2	-	14	1702	c.1613A>G	c.(1612-1614)TAC>TGC	p.Y538C	SLC43A2_uc002fsu.2_Missense_Mutation_p.Y542C	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	538					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CTGGCGCCGGTAGCAGATCAG	0.637													C	1478995	T	C	1478995	3	2	194	1	0	0	0	0	1	0	0	0	14633	1638	57	3	100	3	SLC43A2	17	1478995	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08		1478995	79716215	138	107061											
TP53	7157	broad.mit.edu	37	chr17	7577130	7577130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaacacgcacctcaaAgctgttccgtcccagtagat	8	14	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr17:7577130A>G	uc002gim.2	-	8	1002	c.808T>C	c.(808-810)TTT>CTT	p.F270L	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138L|TP53_uc010cng.1_Missense_Mutation_p.F138L|TP53_uc002gii.1_Missense_Mutation_p.F138L|TP53_uc010cnh.1_Missense_Mutation_p.F270L|TP53_uc010cni.1_Missense_Mutation_p.F270L|TP53_uc002gij.2_Missense_Mutation_p.F270L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	270	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CGCACCTCAAAGCTGTTCCGT	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			G	7577130	A	G	7577130	3	3	194	1	0	0	0	0	1	0	0	0	16378	72	3	3	478	3	TP53	17	7577130	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	6098135	7577130	73618080	139	107062											
CWC25	54883	broad.mit.edu	37	chr17	36971114	36971114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctagccccccattagtacCtgatgatgaagagtgggtcc	10	12	0	4			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr17:36971114C>T	uc002hqu.2	-	3	581	c.428G>A	c.(427-429)AGG>AAG	p.R143K	CWC25_uc010wdv.1_Missense_Mutation_p.R80K|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	143											0						CCATTAGTACCTGATGATGAA	0.488													T	36971114	C	T	36971114	3	4	194	1	0	0	0	0	1	0	0	0	4069	695	24	4	881	4	CWC25	17	36971114	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	29393984	36971114	44224096	140	107063											
PLEKHH3	79990	broad.mit.edu	37	chr17	40820258	40820258	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaggagaagagctgcTgcagggcctctcgggggagg	20	8	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr17:40820258T>A	uc002iau.2	-	13	2736	c.2269A>T	c.(2269-2271)AGC>TGC	p.S757C	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Missense_Mutation_p.S118C|PLEKHH3_uc002iaw.2_3'UTR	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	757	Poly-Ser.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAAGAGCTGCTGCAGGGCCTC	0.647													A	40820258	T	A	40820258	3	1	194	1	0	0	0	0	1	0	0	0	12078	1580	55	5	116	5	PLEKHH3	17	40820258	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08	3849144	40820258	40374952	141	107064											
SEPT4	5414	broad.mit.edu	37	chr17	56598621	56598621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagtgctttaccttccaCgatgccccaggggtagagtc	11	13	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr17:56598621C>T	uc002iwm.1	-	9	1236	c.1108G>A	c.(1108-1110)GTG>ATG	p.V370M	SEPT4_uc002iwk.1_Missense_Mutation_p.V223M|SEPT4_uc010wnw.1_Missense_Mutation_p.V223M|SEPT4_uc002iwl.1_Missense_Mutation_p.V223M|SEPT4_uc002iwn.1_Missense_Mutation_p.V271M|SEPT4_uc002iwo.1_Missense_Mutation_p.V351M|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Missense_Mutation_p.V385M|SEPT4_uc010wny.1_Missense_Mutation_p.V362M|SEPT4_uc010dcy.1_3'UTR	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	370					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTACCTTCCACGATGCCCCAG	0.577											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56598621	C	T	56598621	3	4	194	1	0	0	0	0	1	0	0	0	14066	536	19	1	344	1	SEPT4	17	56598621	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	15778363	56598621	24596589	142	107065											
BCAS3	54828	broad.mit.edu	37	chr17	59093117	59093117	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttctctttgtagggaaaCtgaacagccaagactcctat	7	9	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr17:59093117C>G	uc002iyv.3	+	16	1601	c.1492C>G	c.(1492-1494)CTG>GTG	p.L498V	BCAS3_uc010wow.1_Missense_Mutation_p.L285V|BCAS3_uc002iyu.3_Missense_Mutation_p.L498V|BCAS3_uc002iyw.3_Missense_Mutation_p.L494V|BCAS3_uc002iyy.3_Missense_Mutation_p.L269V|BCAS3_uc002iyz.3_Missense_Mutation_p.L52V|BCAS3_uc002iza.3_Missense_Mutation_p.L52V	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	498						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTAGGGAAACTGAACAGCCA	0.448													G	59093117	C	G	59093117	3	3	194	1	0	0	0	0	1	0	0	0	1352	564	20	5	1550	5	BCAS3	17	59093117	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	2494496	59093117	22102093	143	107066											
KIF19	124602	broad.mit.edu	37	chr17	72350375	72350375	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctcgcgggccctgggaAccgaggggcgacacctgctg	18	14	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr17:72350375A>C	uc002jkm.3	+	18	2521	c.2383A>C	c.(2383-2385)ACC>CCC	p.T795P		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	795					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						GGCCCTGGGAACCGAGGGGCG	0.697													C	72350375	A	C	72350375	3	2	194	1	0	0	0	0	1	0	0	0	8282	43	2	5	2453	5	KIF19	17	72350375	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	13257258	72350375	8844835	144	107067											
SS18	6760	broad.mit.edu	37	chr18	23615079	23615079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcatcttgctgttggccaTactgtgaatttcctacagga	9	9	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr18:23615079T>G	uc002kvm.2	-	9	1064	c.986A>C	c.(985-987)TAT>TCT	p.Y329S	SS18_uc002kvn.2_Missense_Mutation_p.Y298S|SS18_uc010xbf.1_Missense_Mutation_p.Y247S|SS18_uc010xbg.1_Missense_Mutation_p.Y246S|SS18_uc010xbh.1_Missense_Mutation_p.Y246S|SS18_uc010xbi.1_Missense_Mutation_p.Y306S|SS18_uc010dlz.1_Missense_Mutation_p.Y277S	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	329	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CTGTTGGCCATACTGTGAATT	0.473			T	SSX1| SSX2	synovial sarcoma								G	23615079	T	G	23615079	3	3	194	1	0	0	0	0	1	0	0	0	15174	1406	49	5	282	5	SS18	18	23615079	Missense_Mutation	SNP	T	TCGA-CG-5727-01A-11D-1600-08		23615079	54462169	145	107068											
NARS	4677	broad.mit.edu	37	chr18	55268941	55268941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacgtctcggatgtgataCctattcagaatccacgttaa	7	11	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr18:55268941C>A	uc002lgs.2	-	14	1818	c.1590G>T	c.(1588-1590)AGG>AGT	p.R530S	NARS_uc002lgt.2_Missense_Mutation_p.R529S|NARS_uc010xea.1_Missense_Mutation_p.R281S	NM_004539	NP_004530	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	530					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding				0		Colorectal(73;0.227)			L-Asparagine(DB00174)	GGATGTGATACCTATTCAGAA	0.428													A	55268941	C	A	55268941	3	1	194	1	0	0	0	0	1	0	0	0	10170	506	18	5	60	5	NARS	18	55268941	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	31653862	55268941	22808307	146	107069											
C19orf26	255057	broad.mit.edu	37	chr19	1235849	1235849	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagacaacaccaccagcgtGccccccacgaacagcgacat	7	19	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:1235849G>T	uc002lrm.2	-	3	431	c.156C>A	c.(154-156)GGC>GGA	p.G52G		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	52	Helical; (Potential).					integral to membrane					0		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)		CCACCAGCGTGCCCCCCACGA	0.677										HNSCC(14;0.022)			T	1235849	G	T	1235849	2	4	194	1	0	0	0	0	0	0	0	1	1916	1306	46	5		5	C19orf26	19	1235849	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08		1235849	57893134	147	107070											
C3	718	broad.mit.edu	37	chr19	6680225	6680225	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctggataagctctacattaAagtattggtgaactttgaaa	9	5	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:6680225A>T	uc002mfm.2	-	36	4462	c.4400T>A	c.(4399-4401)TTT>TAT	p.F1467Y	C3_uc002mfl.2_Missense_Mutation_p.F203Y	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1467					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCTACATTAAAGTATTGGTG	0.542													T	6680225	A	T	6680225	3	4	194	1	0	0	0	0	1	0	0	0	2204	14	1	5	615	5	C3	19	6680225	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	5444376	6680225	52448758	148	107071											
C3	718	broad.mit.edu	37	chr19	6711199	6711199	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgagagctcctgcttcttCgtgcgcacctgggtggggaa	14	12	1	1	rs138824784		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:6711199C>T	uc002mfm.2	-	12	1340	c.1278G>A	c.(1276-1278)ACG>ACA	p.T426T		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	426					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTGCTTCTTCGTGCGCACCT	0.423													T	6711199	C	T	6711199	2	4	194	1	0	0	0	0	0	0	0	1	2204	871	31	1		1	C3	19	6711199	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	30974	6711199	52417784	149	107072											
OR10H5	284433	broad.mit.edu	37	chr19	15905399	15905399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccatttcttctgccacGtgccacctctgttgaagttg	7	14	3	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:15905399G>A	uc010xos.1	+	1	541	c.541G>A	c.(541-543)GTG>ATG	p.V181M		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTCTGCCACGTGCCACCTCT	0.582													A	15905399	G	A	15905399	3	1	194	1	0	0	0	0	1	0	0	0	10909	1145	40	1	543	1	OR10H5	19	15905399	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	9194200	15905399	43223584	150	107073											
UNC13A	23025	broad.mit.edu	37	chr19	17737485	17737485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcaacacattgtccgCgtcctgggccacgctgctgc	13	15	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:17737485C>T	uc002nhd.2	-	34	4294	c.4294G>A	c.(4294-4296)GCG>ACG	p.A1432T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1344					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ACATTGTCCGCGTCCTGGGCC	0.617													T	17737485	C	T	17737485	3	4	194	1	0	0	0	0	1	0	0	0	16981	768	27	1	1121	1	UNC13A	19	17737485	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	1832086	17737485	41391498	151	107074											
SF4	57794	broad.mit.edu	37	chr19	19414582	19414582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catagctactttttctaactCggggcctccttctgccacaa	6	14	2	0	rs150375001		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:19414582C>T	uc002nmh.2	-	5	615	c.613G>A	c.(613-615)GAG>AAG	p.E205K	SF4_uc002nmf.2_5'Flank|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_Intron	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	205	SURP motif 1.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						TTTTCTAACTCGGGGCCTCCT	0.527													T	19414582	C	T	19414582	3	4	194	1	0	0	0	0	1	0	0	0	14155	893	31	1	1364	1	SF4	19	19414582	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	1677097	19414582	39714401	152	107075											
TSHZ3	57616	broad.mit.edu	37	chr19	31769042	31769042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttgggaagttggtaggCggcatggatgctgggatagc	18	5	0	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:31769042C>T	uc002nsy.3	-	2	1722	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	553					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					AGTTGGTAGGCGGCATGGATG	0.552													T	31769042	C	T	31769042	3	4	194	1	0	0	0	0	1	0	0	0	16622	768	27	1	1592	1	TSHZ3	19	31769042	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	12354460	31769042	27359941	153	107076											
DPY19L3	147991	broad.mit.edu	37	chr19	32930708	32930709	+	Missense_Mutation	DNP	AT	AT	TA													acacttcttgccattttcatAtcaacttttctctttagtct							TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:32930708_32930709AT>TA	uc002ntg.2	+	8	923_924	c.747_748AT>TA	c.(745-750)ATATCA>ATTACA	p.S250T	DPY19L3_uc002nth.1_Missense_Mutation_p.S250T|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	250	Helical; (Potential).					integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					CCATTTTCATATCAACTTTTCT	0.371													TA	32930709	AT	TA	32930708	3	4	194	1	0	0	0	0	1	0	0	0	4742	439	16	5	773	5	DPY19L3	19	32930708	Missense_Mutation	DNP	AT	TCGA-CG-5727-01A-11D-1600-08	1161666	32930708	26198275	154	107077											
SIPA1L3	23094	broad.mit.edu	37	chr19	38573359	38573359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggccatggcctccctcaCggcctcgcgggcccacagcc	11	21	1	0	rs141710131		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:38573359C>T	uc002ohk.2	+	3	1663	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	385					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTCCCTCACGGCCTCGCGG	0.692													T	38573359	C	T	38573359	3	4	194	1	0	0	0	0	1	0	0	0	14331	536	19	1	1156	1	SIPA1L3	19	38573359	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	5642651	38573359	20555624	155	107078											
RYR1	6261	broad.mit.edu	37	chr19	38976356	38976356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacgctctgtgcagccaCgtagaccaagctcagctgct	11	15	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:38976356C>T	uc002oit.2	+	34	5191	c.5061C>T	c.(5059-5061)CAC>CAT	p.H1687H	RYR1_uc002oiu.2_Silent_p.H1687H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1687	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTGCAGCCACGTAGACCAAG	0.662													T	38976356	C	T	38976356	2	4	194	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38976356	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	402997	38976356	20152627	156	107079											
ERF	2077	broad.mit.edu	37	chr19	42753352	42753352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgtcctcagggctgaaGgagaagtgggagcctccccc	13	12	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:42753352G>A	uc002ote.3	-	4	1070	c.912C>T	c.(910-912)TCC>TCT	p.S304S	ERF_uc002otd.3_Silent_p.S35S	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	304					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			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CAGGGCTGAAGGAGAAGTGGG	0.677													A	42753352	G	A	42753352	2	1	194	1	0	0	0	0	0	0	0	1	5221	987	35	4		4	ERF	19	42753352	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	3776996	42753352	16375631	157	107080											
PPP2R1A	5518	broad.mit.edu	37	chr19	52714526	52714526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accacagccaccgctggagtCgctggccacagtggaggaga	14	13	0	1	rs148604195		TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:52714526C>T	uc002pyp.2	+	4	443	c.284C>T	c.(283-285)TCG>TTG	p.S95L	PPP2R1A_uc010ydk.1_Missense_Mutation_p.S40L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S135L|PPP2R1A_uc002pyq.2_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	95	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 3.|Polyoma small and medium T antigens 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			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCGCTGGAGTCGCTGGCCACA	0.627			Mis		clear cell ovarian carcinoma								T	52714526	C	T	52714526	3	4	194	1	0	0	0	0	1	0	0	0	12382	893	31	1	298	1	PPP2R1A	19	52714526	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	9961174	52714526	6414457	158	107081											
ZNF578	147660	broad.mit.edu	37	chr19	53014551	53014551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccctgacatgccatcGtagatgtcacactggtgaga	10	11	2	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:53014551G>A	uc002pzp.3	+	6	1161	c.917G>A	c.(916-918)CGT>CAT	p.R306H		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	81	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACATGCCATCGTAGATGTCAC	0.433													A	53014551	G	A	53014551	3	1	194	1	0	0	0	0	1	0	0	0	18007	1145	40	1	927	1	ZNF578	19	53014551	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	300025	53014551	6114432	159	107082											
ZNF701	55762	broad.mit.edu	37	chr19	53086371	53086371	+	Frame_Shift_Del	DEL	A	A	-													attcacactggagagaaaccAtacaaatgtaaggtttgtga							TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:53086370_53086370CA>C	uc010ydn.2	+	4	1319	c.1256_1256CA>C	c.(1255-1257)ccafs	p.P419fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.P353fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.P419fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGAGAGAAACCATACAAATGT	0.398													-	53086371	A	-	53086371	7	5	194	1	0	1	0	1	0	0	0	0	18102	204	8	0	1271	0	ZNF701	19	53086371	Frame_Shift_Del	DEL	A	TCGA-CG-5727-01A-11D-1600-08	71820	53086371	6042612	160	107083											
ZNF331	55422	broad.mit.edu	37	chr19	54080995	54080995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggaaggctttcatttAtggatcgagcctcgtgaaac	13	7	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:54080995A>G	uc002qbx.1	+	7	2615	c.1181A>G	c.(1180-1182)TAT>TGT	p.Y394C	ZNF331_uc002qby.1_Missense_Mutation_p.Y394C|ZNF331_uc002qbz.1_Missense_Mutation_p.Y394C|ZNF331_uc002qca.1_Missense_Mutation_p.Y394C|ZNF331_uc010eqr.1_Missense_Mutation_p.Y394C|ZNF331_uc002qcb.1_Missense_Mutation_p.Y394C|ZNF331_uc002qcc.1_Missense_Mutation_p.Y394C|ZNF331_uc002qcd.1_Missense_Mutation_p.Y394C	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	394	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GCTTTCATTTATGGATCGAGC	0.488			T	?	follicular thyroid adenoma								G	54080995	A	G	54080995	3	3	194	1	0	0	0	0	1	0	0	0	17846	449	16	3	1191	3	ZNF331	19	54080995	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	994624	54080995	5047988	161	107084											
KIR2DL4	3805	broad.mit.edu	37	chr19	55316320	55316320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggacacgtgactcttcGgtgtcactatcgtcgtgggt	14	9	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:55316320G>A	uc010yfm.1	+	3	189	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.R45Q|KIR2DL4_uc002qhg.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhi.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.R50Q|KIR2DL4_uc010ese.2_5'Flank	NM_002255	NP_002246	Q99706	KI2L4_HUMAN	killer cell immunoglobulin-like receptor, two	50	Ig-like C2-type 1.|Extracellular (Potential).				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0192)		GTGACTCTTCGGTGTCACTAT	0.547													A	55316320	G	A	55316320	3	1	194	1	0	0	0	0	1	0	0	0	8318	1116	39	1	159	1	KIR2DL4	19	55316320	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	1235325	55316320	3812663	162	107085											
ZNF71	58491	broad.mit.edu	37	chr19	57133750	57133750	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcggcaaggccttcagcaaGaactcctcgctcacgcagca	10	15	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:57133750G>C	uc002qnm.3	+	3	1333	c.1095G>C	c.(1093-1095)AAG>AAC	p.K365N		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	365	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCTTCAGCAAGAACTCCTCGC	0.622													C	57133750	G	C	57133750	3	2	194	1	0	0	0	0	1	0	0	0	18111	933	33	5	1097	5	ZNF71	19	57133750	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	1817430	57133750	1995233	163	107086											
ZNF264	9422	broad.mit.edu	37	chr19	57705342	57705342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaccaggaggtgatgctgGaaaactgtgggctcctggtg	16	7	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr19:57705342G>A	uc002qob.2	+	2	546	c.133G>A	c.(133-135)GAA>AAA	p.E45K		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		GGTGATGCTGGAAAACTGTGG	0.577													A	57705342	G	A	57705342	3	1	194	1	0	0	0	0	1	0	0	0	17801	1175	41	4	139	4	ZNF264	19	57705342	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	571592	57705342	1423641	164	107087											
RBCK1	10616	broad.mit.edu	37	chr20	409672	409672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagaaggacggctgcgactgGatccgctgcaccgtctgcca	13	13	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:409672G>C	uc002wdp.3	+	11	2079	c.1386G>C	c.(1384-1386)TGG>TGC	p.W462C	RBCK1_uc002wdq.3_Missense_Mutation_p.W420C|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.W292C	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	462	IBR-type 2.				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				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCTGCGACTGGATCCGCTGCA	0.667													C	409672	G	C	409672	3	2	194	1	0	0	0	0	1	0	0	0	13107	1183	41	5	1447	5	RBCK1	20	409672	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08		409672	62615848	165	107088											
RASSF2	9770	broad.mit.edu	37	chr20	4771170	4771170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcactaggcgtcctcAcattgccacggcgacgcacc	11	16	2	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:4771170A>G	uc002wld.2	-	6	518	c.464T>C	c.(463-465)GTG>GCG	p.V155A	RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.V155A	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	155					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						AGGCGTCCTCACATTGCCACG	0.617													G	4771170	A	G	4771170	3	3	194	1	0	0	0	0	1	0	0	0	13086	159	6	3	540	3	RASSF2	20	4771170	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	4361498	4771170	58254350	166	107089											
SPTLC3	55304	broad.mit.edu	37	chr20	13098334	13098334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcacattcaccaaaAgttttggagcttcaggaggt	11	8	3	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:13098334A>C	uc002wod.1	+	8	1403	c.1114A>C	c.(1114-1116)AGT>CGT	p.S372R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	372					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	ATTCACCAAAAGTTTTGGAGC	0.542													C	13098334	A	C	13098334	3	2	194	1	0	0	0	0	1	0	0	0	15124	72	3	5	1144	5	SPTLC3	20	13098334	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	8327164	13098334	49927186	167	107090											
CST2	1470	broad.mit.edu	37	chr20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagcacccgcagcaggcGtctgtagtactcatcttcag	10	13	4	0	rs112783512	byFrequency	TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:23807102G>A	uc002wtq.1	-	1	211	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	66						extracellular region	cysteine-type endopeptidase inhibitor activity				0						CGCAGCAGGCGTCTGTAGTAC	0.557													A	23807102	G	A	23807102	3	1	194	1	0	0	0	0	1	0	0	0	3972	1145	40	1	241	1	CST2	20	23807102	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	10708768	23807102	39218418	168	107091											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122521	33122521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaaggcacggagcaccGtgcgtgacatcgacccccag	12	15	0	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:33122521G>A	uc002xal.2	+	3	229	c.169G>A	c.(169-171)GTG>ATG	p.V57M	DYNLRB1_uc010zuk.1_Missense_Mutation_p.V57M|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Roadblock-1	57					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity				0						ACGGAGCACCGTGCGTGACAT	0.547													A	33122521	G	A	33122521	3	1	194	1	0	0	0	0	1	0	0	0	4850	1145	40	1	179	1	DYNLRB1	20	33122521	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	9315419	33122521	29902999	169	107092											
PTPRT	11122	broad.mit.edu	37	chr20	41100955	41100955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctctccattcggccctcGgggttagacagcaagagtcg	12	13	1	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:41100955G>A	uc002xkg.2	-	8	1585	c.1401C>T	c.(1399-1401)CCC>CCT	p.P467P	PTPRT_uc010ggj.2_Silent_p.P467P	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	467	Extracellular (Potential).|Fibronectin type-III 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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCGGCCCTCGGGGTTAGACA	0.587													A	41100955	G	A	41100955	2	1	194	1	0	0	0	0	0	0	0	1	12812	1103	39	1		1	PTPRT	20	41100955	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	7978434	41100955	21924565	170	107093											
SEMG1	6406	broad.mit.edu	37	chr20	43836661	43836661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacctcactctgtcctgcGcaccaagacaaactccaaca	4	17	2	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:43836661G>A	uc002xni.2	+	2	780	c.723G>A	c.(721-723)GCG>GCA	p.A241A	SEMG1_uc002xnj.2_Silent_p.A241A|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.A241A	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	241	42 AA repeat 2.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				TCTGTCCTGCGCACCAAGACA	0.378													A	43836661	G	A	43836661	2	1	194	1	0	0	0	0	0	0	0	1	14044	1074	38	1		1	SEMG1	20	43836661	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	2735706	43836661	19188859	171	107094											
ZNF217	7764	broad.mit.edu	37	chr20	52192732	52192732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtttcaattttgtctcGggtctttttgtcttatccgg	10	7	4	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr20:52192732G>A	uc002xwq.3	-	3	2842	c.2571C>T	c.(2569-2571)CCC>CCT	p.P857P	ZNF217_uc010gij.1_Silent_p.P849P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	857					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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			ATTTTGTCTCGGGTCTTTTTG	0.532													A	52192732	G	A	52192732	2	1	194	1	0	0	0	0	0	0	0	1	17769	1103	39	1		1	ZNF217	20	52192732	Silent	SNP	G	TCGA-CG-5727-01A-11D-1600-08	8356071	52192732	10832788	172	107095											
TPTE	7179	broad.mit.edu	37	chr21	10941947	10941947	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagactgccttccagaagaTggaaatgacatagcaataat	8	7	0	4			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr21:10941947T>C	uc002yip.1	-	14	1124	c.756A>G	c.(754-756)CCA>CCG	p.P252P	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.P234P|TPTE_uc002yir.1_Silent_p.P214P|TPTE_uc010gkv.1_Silent_p.P114P	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	252	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		TTCCAGAAGATGGAAATGACA	0.289													C	10941947	T	C	10941947	2	2	194	1	0	0	0	0	0	0	0	1	16427	1451	51	3		3	TPTE	21	10941947	Silent	SNP	T	TCGA-CG-5727-01A-11D-1600-08		10941947	37187948	173	107096											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768846	31768846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctatggcgttggattctgcCgcccaacctacttggcttct	10	13	2	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr21:31768846C>T	uc002yoa.2	+	1	455	c.442C>T	c.(442-444)CGC>TGC	p.R148C		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	148						intermediate filament				ovary(1)	1						TGGATTCTGCCGCCCAACCTA	0.522													T	31768846	C	T	31768846	3	4	194	1	0	0	0	0	1	0	0	0	8522	652	23	1	444	1	KRTAP13-1	21	31768846	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	20826899	31768846	16361049	174	107097											
SON	6651	broad.mit.edu	37	chr21	34924449	34924449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcacctagaccctacaGgatagcacccaggtcctata	8	13	1	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr21:34924449G>A	uc002yse.1	+	3	2961	c.2912G>A	c.(2911-2913)AGG>AAG	p.R971K	SON_uc002ysb.1_Missense_Mutation_p.R971K|SON_uc002ysc.2_Missense_Mutation_p.R971K|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	971	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				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			ovary(4)|skin(2)	6						AGACCCTACAGGATAGCACCC	0.468													A	34924449	G	A	34924449	3	1	194	1	0	0	0	0	1	0	0	0	14926	1000	35	4	2922	4	SON	21	34924449	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08	3155603	34924449	13205446	175	107098											
ZNF295	49854	broad.mit.edu	37	chr21	43413582	43413582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaactatctttcggcCaactcttttcagttaatgac	5	12	3	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr21:43413582C>A	uc002zab.3	-	3	837	c.623G>T	c.(622-624)TGG>TTG	p.W208L	ZNF295_uc002yzz.3_Missense_Mutation_p.W208L|ZNF295_uc002yzy.3_Missense_Mutation_p.W208L|ZNF295_uc002zaa.3_Missense_Mutation_p.W208L|ZNF295_uc010gov.1_Missense_Mutation_p.W208L|ZNF295_uc002zac.2_Missense_Mutation_p.W208L	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	208					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ATCTTTCGGCCAACTCTTTTC	0.408													A	43413582	C	A	43413582	3	1	194	1	0	0	0	0	1	0	0	0	17824	595	21	5	2581	5	ZNF295	21	43413582	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	8489133	43413582	4716313	176	107099											
PRMT2	3275	broad.mit.edu	37	chr21	48081793	48081793	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtttagcgtccacttcCagagcctgcaggaggggcag	14	12	0	1			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr21:48081793C>T	uc002zjx.2	+	10	1356	c.1042C>T	c.(1042-1044)CAG>TAG	p.Q348*	PRMT2_uc002zjy.2_Nonsense_Mutation_p.Q348*|PRMT2_uc010gqm.2_Nonsense_Mutation_p.Q246*|PRMT2_uc011aga.1_Intron|PRMT2_uc011agb.1_Intron|PRMT2_uc011agc.1_Intron|PRMT2_uc002zjz.1_3'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	348					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			ovary(1)	1	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)		CGTCCACTTCCAGAGCCTGCA	0.542													T	48081793	C	T	48081793	4	4	194	1	0	0	0	0	0	1	0	0	12537	595	21	4	1072	4	PRMT2	21	48081793	Nonsense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08	4668211	48081793	48102	177	107100											
PVALB	5816	broad.mit.edu	37	chr22	37209779	37209779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaggtctctggcatctgggGagaagccttttaggatgaat	13	7	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chr22:37209779G>T	uc010gwz.2	-	3	245	c.215C>A	c.(214-216)TCC>TAC	p.S72Y	PVALB_uc003apx.2_Missense_Mutation_p.S72Y	NM_002854	NP_002845	P20472	PRVA_HUMAN	parvalbumin	72	EF-hand 1.						calcium ion binding			skin(1)	1						GGCATCTGGGGAGAAGCCTTT	0.567													T	37209779	G	T	37209779	3	4	194	1	0	0	0	0	1	0	0	0	12836	1174	41	5	125	5	PVALB	22	37209779	Missense_Mutation	SNP	G	TCGA-CG-5727-01A-11D-1600-08		37209779	14094787	178	107101											
STARD8	9754	broad.mit.edu	37	chrX	67940949	67940949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagctcaccaccactttcCtccagatctaccagcgtgag	7	16	2	2			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chrX:67940949C>A	uc004dxa.2	+	8	2365	c.1993C>A	c.(1993-1995)CTC>ATC	p.L665I	STARD8_uc004dxb.2_Missense_Mutation_p.L745I|STARD8_uc004dxc.3_Missense_Mutation_p.L665I	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	665	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CACCACTTTCCTCCAGATCTA	0.557													A	67940949	C	A	67940949	3	1	194	1	0	0	0	0	1	0	0	0	15262	681	24	5	2267	5	STARD8	23	67940949	Missense_Mutation	SNP	C	TCGA-CG-5727-01A-11D-1600-08		67940949	87329611	179	107102											
DLG3	1741	broad.mit.edu	37	chrX	69719090	69719090	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgagtcaatgatgacctgatCtccgaatttccacataaatt	6	10	2	3			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chrX:69719090C>A	uc004dyi.1	+	15	2263	c.1935C>A	c.(1933-1935)ATC>ATA	p.I645I	DLG3_uc004dyj.1_Silent_p.I340I|DLG3_uc011mpn.1_Silent_p.I193I	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	645	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					ATGACCTGATCTCCGAATTTC	0.512													A	69719090	C	A	69719090	2	1	194	1	0	0	0	0	0	0	0	1	4556	903	32	5		5	DLG3	23	69719090	Silent	SNP	C	TCGA-CG-5727-01A-11D-1600-08	1778141	69719090	85551470	180	107103											
ATP11C	286410	broad.mit.edu	37	chrX	138864763	138864763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcaatatcatcgaaaActttttccattttttcttct	2	9	4	0			TCGA-CG-5727-01A-11D-1600-08	TCGA-CG-5727-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2	248d27c2-beda-4902-9cfb-97806336b105	g.chrX:138864763A>G	uc004faz.2	-	18	2003	c.1904T>C	c.(1903-1905)GTT>GCT	p.V635A	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.V635A	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	635	Cytoplasmic (Potential).				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			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					ATCATCGAAAACTTTTTCCAT	0.333													G	138864763	A	G	138864763	3	3	194	1	0	0	0	0	1	0	0	0	1121	43	2	3	1609	3	ATP11C	23	138864763	Missense_Mutation	SNP	A	TCGA-CG-5727-01A-11D-1600-08	69145673	138864763	16405797	181	107104											
UBE2J2	118424	broad.mit.edu	37	chr1	1192586	1192586	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccctccaggcaccttAcctggtgttgcacttaaacc	9	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:1192586A>G	uc001adn.2	-	4	585	c.275_splice	c.e4+1	p.R92_splice	UBE2J2_uc001adm.2_Splice_Site_p.R57_splice|UBE2J2_uc001ado.2_Splice_Site_p.R108_splice|UBE2J2_uc001adp.2_Splice_Site_p.R92_splice|UBE2J2_uc001adq.2_Splice_Site_p.R40_splice|UBE2J2_uc001adr.2_Splice_Site_p.R40_splice|UBE2J2_uc001ads.2_Splice_Site_p.R40_splice	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3						response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CAGGCACCTTACCTGGTGTTG	0.512													G	1192586	A	G	1192586	5	3	195	1	0	0	0	0	0	0	1	0	16858	405	14	3	518	3	UBE2J2	1	1192586	Splice_Site	SNP	A	TCGA-CG-5728-01A-11D-1600-08		1192586	248058035	1	107105											
CCNL2	81669	broad.mit.edu	37	chr1	1326184	1326184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagataaatgcaggcacaggCgatgctctctggctggaacc	12	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:1326184C>T	uc001afi.2	-	6	753	c.721G>A	c.(721-723)GCC>ACC	p.A241T	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.A19T|CCNL2_uc001afg.1_Missense_Mutation_p.A19T|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	241	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(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;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)		CAGGCACAGGCGATGCTCTCT	0.522													T	1326184	C	T	1326184	3	4	195	1	0	0	0	0	1	0	0	0	2932	768	27	1	865	1	CCNL2	1	1326184	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	133598	1326184	247924437	2	107106											
MIB2	142678	broad.mit.edu	37	chr1	1563724	1563724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacggcttcacggcgcTgcatctggctgccctcaaca	13	14	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:1563724T>C	uc001agg.2	+	15	2214	c.2087T>C	c.(2086-2088)CTG>CCG	p.L696P	MIB2_uc001agh.2_Missense_Mutation_p.L682P|MIB2_uc001agi.2_Missense_Mutation_p.L692P|MIB2_uc001agj.2_Missense_Mutation_p.L537P|MIB2_uc001agk.2_Missense_Mutation_p.L631P|MIB2_uc001agl.1_Missense_Mutation_p.L652P|MIB2_uc001agm.2_Missense_Mutation_p.L573P|MIB2_uc010nyq.1_Missense_Mutation_p.L652P|MIB2_uc009vkh.2_Missense_Mutation_p.L502P|MIB2_uc001agn.2_Missense_Mutation_p.L328P|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	696	ANK 6.				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				0	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)		TTCACGGCGCTGCATCTGGCT	0.677													C	1563724	T	C	1563724	3	2	195	1	0	0	0	0	1	0	0	0	9567	1580	55	3	2316	3	MIB2	1	1563724	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	237540	1563724	247686897	3	107107											
KIAA1751	85452	broad.mit.edu	37	chr1	1905549	1905549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcgcacctggagccGccgccccgtggcctccacct	13	20	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:1905549G>A	uc001aim.1	-	7	745	c.589C>T	c.(589-591)CGG>TGG	p.R197W	KIAA1751_uc009vkz.1_Missense_Mutation_p.R197W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	197										pancreas(1)	1	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ACCTGGAGCCGCCGCCCCGTG	0.657													A	1905549	G	A	1905549	3	1	195	1	0	0	0	0	1	0	0	0	8256	1086	38	1	1747	1	KIAA1751	1	1905549	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	341825	1905549	247345072	4	107108											
PANK4	55229	broad.mit.edu	37	chr1	2445527	2445527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtcagggtcccataggCgctggggacagacacggcag	16	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:2445527C>T	uc001ajm.1	-	12	1498	c.1489G>A	c.(1489-1491)GCC>ACC	p.A497T	PANK4_uc010nza.1_Missense_Mutation_p.A458T	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	497					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	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;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTCCCATAGGCGCTGGGGACA	0.652													T	2445527	C	T	2445527	3	4	195	1	0	0	0	0	1	0	0	0	11419	782	27	1	864	1	PANK4	1	2445527	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	539978	2445527	246805094	5	107109											
ACTRT2	140625	broad.mit.edu	37	chr1	2938781	2938781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggttactccctgccccaCgcagtcaccaagctccacgt	9	17	1	0	rs149989896		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:2938781C>T	uc001ajz.2	+	1	736	c.531C>T	c.(529-531)CAC>CAT	p.H177H		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	177						cytoplasm|cytoskeleton					0	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)		CCCTGCCCCACGCAGTCACCA	0.657													T	2938781	C	T	2938781	2	4	195	1	0	0	0	0	0	0	0	1	219	535	19	1		1	ACTRT2	1	2938781	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	493254	2938781	246311840	6	107110											
TNFRSF9	3604	broad.mit.edu	37	chr1	7993307	7993307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacagcaggaagagcaaCgcagtcgacgtcagcgcaag	13	10	1	2	rs143532137		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:7993307C>T	uc001aot.2	-	7	722	c.594G>A	c.(592-594)GCG>GCA	p.A198A		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	198	Helical; (Potential).				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	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)		GGAAGAGCAACGCAGTCGACG	0.448													T	7993307	C	T	7993307	2	4	195	1	0	0	0	0	0	0	0	1	16297	523	19	1		1	TNFRSF9	1	7993307	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5054526	7993307	241257314	7	107111											
CASZ1	54897	broad.mit.edu	37	chr1	10700075	10700075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcgatgatccagaagcGctttttggcccccgaggctg	12	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:10700075G>A	uc001aro.2	-	21	4524	c.4204C>T	c.(4204-4206)CGC>TGC	p.R1402C		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		ATCCAGAAGCGCTTTTTGGCC	0.637													A	10700075	G	A	10700075	3	1	195	1	0	0	0	0	1	0	0	0	2685	1087	38	1	1079	1	CASZ1	1	10700075	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2706768	10700075	238550546	8	107112											
CASZ1	54897	broad.mit.edu	37	chr1	10720396	10720396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcatacttagagaaccGcgcccgcttgctgagggtat	10	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:10720396G>A	uc001aro.2	-	6	1023	c.703C>T	c.(703-705)CGG>TGG	p.R235W	CASZ1_uc001arp.1_Missense_Mutation_p.R235W|CASZ1_uc009vmx.2_Missense_Mutation_p.R259W|CASZ1_uc001arq.1_Missense_Mutation_p.R94W	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		TTAGAGAACCGCGCCCGCTTG	0.647													A	10720396	G	A	10720396	3	1	195	1	0	0	0	0	1	0	0	0	2685	1086	38	1	4644	1	CASZ1	1	10720396	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	20321	10720396	238530225	9	107113											
MTOR	2475	broad.mit.edu	37	chr1	11273547	11273548	+	Frame_Shift_Ins	INS	-	-	C													caggtagagcttaaattcacINSccccaagagctaccacaatt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:11273546_11273547A>AC	uc001asd.3	-	20	3315_3316	c.3194_3195T>GT	c.(3193-3195)ggtfs	p.G1065fs		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1065					T cell costimulation|TOR signaling cascade|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	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase 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						GCTTAAATTCACCCCCAAGAGC	0.485													C	11273548	-	C	11273547	7	5	195	1	0	1	1	0	0	0	0	0	9954	507	18	0	4607	0	MTOR	1	11273547	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	553151	11273547	237977074	10	107114											
VPS13D	55187	broad.mit.edu	37	chr1	12460264	12460264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagctcattggtaccacGcagcccttcatgctctatgt	7	13	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:12460264G>A	uc001atv.2	+	61	11802	c.11661G>A	c.(11659-11661)ACG>ACA	p.T3887T	VPS13D_uc001atw.2_Silent_p.T3862T|VPS13D_uc001atx.2_Silent_p.T3074T|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3886					protein localization					ovary(4)|pancreas(1)	5	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)		TTGGTACCACGCAGCCCTTCA	0.493													A	12460264	G	A	12460264	2	1	195	1	0	0	0	0	0	0	0	1	17189	1074	38	1		1	VPS13D	1	12460264	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1186717	12460264	236790357	11	107115											
KAZ	23254	broad.mit.edu	37	chr1	15386668	15386668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtccctgctttccagCggtcagggtgagcccctgcc	12	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:15386668C>T	uc001avm.3	+	6	1198	c.917C>T	c.(916-918)GCG>GTG	p.A306V	KAZ_uc009vog.1_Missense_Mutation_p.A306V|KAZ_uc010obj.1_Missense_Mutation_p.A306V|KAZ_uc001avo.2_Missense_Mutation_p.A300V|KAZ_uc001avp.2_Missense_Mutation_p.A212V|KAZ_uc001avq.2_Missense_Mutation_p.A212V|KAZ_uc001avr.2_Missense_Mutation_p.A209V	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	306	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						TGCTTTCCAGCGGTCAGGGTG	0.517													T	15386668	C	T	15386668	3	4	195	1	0	0	0	0	1	0	0	0	7988	782	27	1	1151	1	KAZ	1	15386668	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2926404	15386668	233863953	12	107116											
AGMAT	79814	broad.mit.edu	37	chr1	15905525	15905525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtgtgcgcatccacGtgcagcagccccactgggcc	13	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:15905525G>A	uc001awv.1	-	4	692	c.549C>T	c.(547-549)CAC>CAT	p.H183H	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	183					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCATCCACGTGCAGCAGCC	0.647													A	15905525	G	A	15905525	2	1	195	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15905525	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	518857	15905525	233345096	13	107117											
SPEN	23013	broad.mit.edu	37	chr1	16199371	16199371	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgaaggaggagtggcTgcctttgtggattttgtgga	17	4	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:16199371T>C	uc001axk.1	+	2	348	c.144T>C	c.(142-144)GCT>GCC	p.A48A	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	48	By similarity.|RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A48T(1)		ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GAGGAGTGGCTGCCTTTGTGG	0.438													C	16199371	T	C	16199371	2	2	195	1	0	0	0	0	0	0	0	1	15037	1567	55	3		3	SPEN	1	16199371	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	293846	16199371	233051250	14	107118											
SPEN	23013	broad.mit.edu	37	chr1	16261133	16261133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacgatcgtccggcagacGcgggctcaggggcggggctg	19	12	1	1	rs140025266	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:16261133G>A	uc001axk.1	+	11	8602	c.8398G>A	c.(8398-8400)GCG>ACG	p.A2800T	SPEN_uc010obp.1_Missense_Mutation_p.A2759T	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2800	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		TCCGGCAGACGCGGGCTCAGG	0.592													A	16261133	G	A	16261133	3	1	195	1	0	0	0	0	1	0	0	0	15037	1087	38	1	8440	1	SPEN	1	16261133	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	61762	16261133	232989488	15	107119											
CLCNKA	1187	broad.mit.edu	37	chr1	16350339	16350339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtgttccgcctgggagaaGactggtacttcctgatgacc	13	10	0	4	rs139165394		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:16350339G>A	uc001axu.2	+	3	225	c.145G>A	c.(145-147)GAC>AAC	p.D49N	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.D49N|CLCNKA_uc010obw.1_Missense_Mutation_p.D49N|CLCNKB_uc001axw.3_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	49					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		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)	CCTGGGAGAAGACTGGTACTT	0.602													A	16350339	G	A	16350339	3	1	195	1	0	0	0	0	1	0	0	0	3469	942	33	4	151	4	CLCNKA	1	16350339	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	89206	16350339	232900282	16	107120											
CLCNKB	1188	broad.mit.edu	37	chr1	16378782	16378782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagatagtgcatgcactgCccgtgctgatggcggtgctg	15	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:16378782C>T	uc001axw.3	+	15	1578	c.1498C>T	c.(1498-1500)CCC>TCC	p.P500S	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.P500S|CLCNKB_uc001axy.3_Missense_Mutation_p.P331S	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	500	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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)		GCATGCACTGCCCGTGCTGAT	0.627													T	16378782	C	T	16378782	3	4	195	1	0	0	0	0	1	0	0	0	3470	739	26	2	1700	2	CLCNKB	1	16378782	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	28443	16378782	232871839	17	107121											
SDHB	6390	broad.mit.edu	37	chr1	17371343	17371343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcaaatttcttgataCggggagctgtggctgcagct	14	7	1	2	rs143058777		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:17371343C>T	uc001bae.2	-	2	264	c.113G>A	c.(112-114)CGT>CAT	p.R38H		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	38					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)	1		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)	TTTCTTGATACGGGGAGCTGT	0.413			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				T	17371343	C	T	17371343	3	4	195	1	0	0	0	0	1	0	0	0	13965	536	19	1	757	1	SDHB	1	17371343	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	992561	17371343	231879278	18	107122											
SH2D5	400745	broad.mit.edu	37	chr1	21051063	21051063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctggctgtgcccgctcCtcagggtgctgcaagaggta	15	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:21051063C>T	uc001bdt.1	-	5	829	c.204G>A	c.(202-204)GAG>GAA	p.E68E	SH2D5_uc009vpy.1_Silent_p.E152E|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	68											0		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)		GTGCCCGCTCCTCAGGGTGCT	0.687													T	21051063	C	T	21051063	2	4	195	1	0	0	0	0	0	0	0	1	14237	680	24	4		4	SH2D5	1	21051063	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3679720	21051063	228199558	19	107123											
ALPL	249	broad.mit.edu	37	chr1	21890655	21890655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccccctgaggccttgagCcagggctgtaaggacatcgc	13	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:21890655C>T	uc001bet.2	+	6	851	c.594C>T	c.(592-594)AGC>AGT	p.S198S	ALPL_uc010odn.1_Silent_p.S146S|ALPL_uc010odo.1_Silent_p.S143S|ALPL_uc010odp.1_Silent_p.S121S|ALPL_uc001beu.3_Silent_p.S198S	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	198					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGGCCTTGAGCCAGGGCTGTA	0.657													T	21890655	C	T	21890655	2	4	195	1	0	0	0	0	0	0	0	1	547	738	26	2		2	ALPL	1	21890655	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	839592	21890655	227359966	20	107124											
HSPG2	3339	broad.mit.edu	37	chr1	22206641	22206641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaggagctggcatggcCattgcaattgcaaccagagc	12	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:22206641C>A	uc001bfj.2	-	17	2342	c.2302G>T	c.(2302-2304)GGC>TGC	p.G768C	HSPG2_uc009vqd.2_Missense_Mutation_p.G769C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	768	Laminin EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CTGGCATGGCCATTGCAATTG	0.552													A	22206641	C	A	22206641	3	1	195	1	0	0	0	0	1	0	0	0	7430	594	21	5	11197	5	HSPG2	1	22206641	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	315986	22206641	227043980	21	107125											
C1QA	712	broad.mit.edu	37	chr1	22965531	22965531	+	Frame_Shift_Del	DEL	C	C	-													ttctccgccattcggcggaaCcccccaatggggggcaacgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:22965530_22965530AC>A	uc001bfy.3	+	2	453	c.368_368AC>A	c.(367-369)aacfs	p.N123fs		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	123	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)	ATTCGGCGGAACCCCCCAATG	0.622													-	22965531	C	-	22965531	7	5	195	1	0	1	0	1	0	0	0	0	1954	506	18	0	375	0	C1QA	1	22965531	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	758890	22965531	226285090	22	107126											
LUZP1	7798	broad.mit.edu	37	chr1	23419294	23419294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggaagtccccttccaCgctttactgtgctcctgagc	10	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:23419294C>T	uc001bgk.2	-	4	1845	c.1461G>A	c.(1459-1461)GCG>GCA	p.A487A	LUZP1_uc010odv.1_Silent_p.A487A|LUZP1_uc001bgl.2_Silent_p.A487A|LUZP1_uc001bgm.1_Silent_p.A487A	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	487						nucleus					0		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)		TCCCCTTCCACGCTTTACTGT	0.582													T	23419294	C	T	23419294	2	4	195	1	0	0	0	0	0	0	0	1	9086	523	19	1		1	LUZP1	1	23419294	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	453763	23419294	225831327	23	107127											
RUNX3	864	broad.mit.edu	37	chr1	25245743	25245743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttacgtctgggctcccGgggtccgtccacggtcacct	12	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:25245743G>A	uc001bjq.2	-	3	943	c.532C>T	c.(532-534)CGG>TGG	p.R178W	RUNX3_uc010oen.1_Missense_Mutation_p.R178W|RUNX3_uc009vrj.2_Missense_Mutation_p.R192W|RUNX3_uc001bjr.2_Missense_Mutation_p.R192W	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	178	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				0		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)		CTGGGCTCCCGGGGTCCGTCC	0.652													A	25245743	G	A	25245743	3	1	195	1	0	0	0	0	1	0	0	0	13749	1115	39	1	727	1	RUNX3	1	25245743	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1826449	25245743	224004878	24	107128											
C1orf135	79000	broad.mit.edu	37	chr1	26163989	26163992	+	Frame_Shift_Del	DEL	CTTT	CTTT	-													tgagtaaaataaatattagcCtttctttctccaggaaggag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:26163988_26163991CCTTT>C	uc001bkw.1	-	1	133_136	c.133_136AAAGG>G	c.(133-138)aaggctfs	p.K45fs		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	Homo sapiens chromosome 1 open reading frame 135 (C1orf135), mRNA.	45										NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TAAATATTAGCCTTTCTTTCTCCA	0.382													-	26163992	CTTT	-	26163989	7	5	195	1	0	1	0	1	0	0	0	0	1999	680	24	0	946	0	C1orf135	1	26163989	Frame_Shift_Del	DEL	CTTT	TCGA-CG-5728-01A-11D-1600-08	918246	26163989	223086632	25	107129											
RPS6KA1	6195	broad.mit.edu	37	chr1	26881655	26881655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagtttgagatgctgaCgggctccctgcccttccagg	12	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:26881655C>T	uc001bmr.1	+	10	933	c.770C>T	c.(769-771)ACG>ATG	p.T257M	RPS6KA1_uc010ofe.1_Missense_Mutation_p.T165M|RPS6KA1_uc010off.1_Missense_Mutation_p.T241M|RPS6KA1_uc001bms.1_Missense_Mutation_p.T266M|RPS6KA1_uc009vsl.1_Missense_Mutation_p.T100M	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	257	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)		GAGATGCTGACGGGCTCCCTG	0.587													T	26881655	C	T	26881655	3	4	195	1	0	0	0	0	1	0	0	0	13650	536	19	1	947	1	RPS6KA1	1	26881655	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	717666	26881655	222368966	26	107130											
ARID1A	8289	broad.mit.edu	37	chr1	27101612	27101612	+	Frame_Shift_Del	DEL	C	C	-													tagcacctgcccctgtgcagCcccccatgattcggcgggat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:27101611_27101611GC>G	uc001bmv.1	+	17	5266	c.4893_4893GC>G	c.(4891-4893)cagfs	p.Q1631fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q1630fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q1414fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q1248fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Q477fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1631					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.M1634fs*14(1)|p.Q1631*(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)		CCCCTGTGCAGCCCCCCATGA	0.572			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27101612	C	-	27101612	7	5	195	1	0	1	0	1	0	0	0	0	913	739	26	0	4964	0	ARID1A	1	27101612	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	219957	27101612	222149009	27	107131											
SLC9A1	6548	broad.mit.edu	37	chr1	27426921	27426921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcgggggtgaagacatcGtcggttcctggggacgaagt	19	8	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:27426921G>A	uc001bnm.2	-	12	2951	c.2325C>T	c.(2323-2325)GAC>GAT	p.D775D	SLC9A1_uc001bnl.2_Silent_p.D279D|SLC9A1_uc010ofk.1_Silent_p.D436D	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	775	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				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)	TGAAGACATCGTCGGTTCCTG	0.642													A	27426921	G	A	27426921	2	1	195	1	0	0	0	0	0	0	0	1	14709	1136	40	1		1	SLC9A1	1	27426921	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	325309	27426921	221823700	28	107132											
SLC9A1	6548	broad.mit.edu	37	chr1	27436222	27436222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaagatgtccacgatgCccacgtgttcgtagttggca	13	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:27436222C>T	uc001bnm.2	-	3	1486	c.860G>A	c.(859-861)GGC>GAC	p.G287D	SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.G287D	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	287	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				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)	GTCCACGATGCCCACGTGTTC	0.637													T	27436222	C	T	27436222	3	4	195	1	0	0	0	0	1	0	0	0	14709	739	26	2	1627	2	SLC9A1	1	27436222	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	9301	27436222	221814399	29	107133											
PTAFR	5724	broad.mit.edu	37	chr1	28476770	28476770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctcagcaagggtccAgggcagctgcaccacgtggt	14	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:28476770A>G	uc001bpl.2	-	2	890	c.763T>C	c.(763-765)TGG>CGG	p.W255R	PTAFR_uc001bpm.3_Missense_Mutation_p.W255R|PTAFR_uc009vte.2_Missense_Mutation_p.W255R	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	255	Extracellular (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAGGGTCCAGGGCAGCTGC	0.592													G	28476770	A	G	28476770	3	3	195	1	0	0	0	0	1	0	0	0	12723	188	7	3	269	3	PTAFR	1	28476770	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1040548	28476770	220773851	30	107134											
PTPRU	10076	broad.mit.edu	37	chr1	29587410	29587410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcagccgcaccaaatGcgcaggtgggtgcagcagct	12	14	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:29587410G>A	uc001bru.2	+	7	1249	c.1139G>A	c.(1138-1140)TGC>TAC	p.C380Y	PTPRU_uc001brv.2_Missense_Mutation_p.C380Y|PTPRU_uc001brw.2_Missense_Mutation_p.C380Y|PTPRU_uc009vtq.2_Missense_Mutation_p.C380Y|PTPRU_uc009vtr.2_Missense_Mutation_p.C380Y	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	380	Extracellular (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		CGCACCAAATGCGCAGGTGGG	0.662													A	29587410	G	A	29587410	3	1	195	1	0	0	0	0	1	0	0	0	12813	1319	46	2	1165	2	PTPRU	1	29587410	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1110640	29587410	219663211	31	107135											
COL16A1	1307	broad.mit.edu	37	chr1	32148593	32148593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccggtggctcctttcaccCctggagatccctgtgtaaga	11	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:32148593C>A	uc001btk.1	-	37	2845	c.2480G>T	c.(2479-2481)GGG>GTG	p.G827V	COL16A1_uc001btj.1_Missense_Mutation_p.G656V|COL16A1_uc001btl.3_Missense_Mutation_p.G827V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	827	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCTTTCACCCCTGGAGATCC	0.562													A	32148593	C	A	32148593	3	1	195	1	0	0	0	0	1	0	0	0	3673	623	22	5	2474	5	COL16A1	1	32148593	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2561183	32148593	217102028	32	107136											
BAI2	576	broad.mit.edu	37	chr1	32221745	32221745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggtggtggtggagccGgcccccgcctctccagggca	17	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:32221745G>A	uc001btn.2	-	4	1047	c.693C>T	c.(691-693)GCC>GCT	p.A231A	BAI2_uc010ogp.1_Silent_p.A219A|BAI2_uc010ogq.1_Silent_p.A231A|BAI2_uc001bto.2_Silent_p.A231A|BAI2_uc001btq.1_Silent_p.A219A|BAI2_uc010ogr.1_Silent_p.A219A	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	231	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGTGGAGCCGGCCCCCGCCT	0.716													A	32221745	G	A	32221745	2	1	195	1	0	0	0	0	0	0	0	1	1299	1103	39	1		1	BAI2	1	32221745	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	73152	32221745	217028876	33	107137											
SPOCD1	90853	broad.mit.edu	37	chr1	32280436	32280436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcattccaccgtctctggCctccctgggcctgaggcagc	10	17	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:32280436C>T	uc001bts.1	-	2	557	c.499G>A	c.(499-501)GCC>ACC	p.A167T	SPOCD1_uc001btu.2_Missense_Mutation_p.A167T|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	167					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCGTCTCTGGCCTCCCTGGGC	0.617													T	32280436	C	T	32280436	3	4	195	1	0	0	0	0	1	0	0	0	15077	739	26	2	3211	2	SPOCD1	1	32280436	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	58691	32280436	216970185	34	107138											
KHDRBS1	10657	broad.mit.edu	37	chr1	32508218	32508218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagagcacccatatggacGttattaaaaacaaacatgag	8	8	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:32508218G>A	uc001bub.2	+	9	1431	c.1325G>A	c.(1324-1326)CGT>CAT	p.R442H	KHDRBS1_uc001bua.1_Missense_Mutation_p.R403H|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	442					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCATATGGACGTTATTAAAAA	0.493													A	32508218	G	A	32508218	3	1	195	1	0	0	0	0	1	0	0	0	8146	1145	40	1	1359	1	KHDRBS1	1	32508218	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	227782	32508218	216742403	35	107139											
TMEM39B	55116	broad.mit.edu	37	chr1	32566073	32566073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcatgtggccgcagggCgtgctggtgaagcacagcaa	16	9	0	1	rs148218352	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:32566073C>T	uc010ogv.1	+	8	1292	c.1146C>T	c.(1144-1146)GGC>GGT	p.G382G	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Silent_p.G255G|TMEM39B_uc001bue.3_Silent_p.G383G|TMEM39B_uc001buf.3_Silent_p.G183G|TMEM39B_uc010ogw.1_Silent_p.G183G	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	382						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGCCGCAGGGCGTGCTGGTGA	0.537													T	32566073	C	T	32566073	2	4	195	1	0	0	0	0	0	0	0	1	16159	755	27	1		1	TMEM39B	1	32566073	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	57855	32566073	216684548	36	107140											
TMEM39B	55116	broad.mit.edu	37	chr1	32568262	32568262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagagagacctggaccaCcgtttctcctgagccctggg	11	16	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:32568262C>T	uc010ogv.1	+	9	1613	c.1467C>T	c.(1465-1467)CAC>CAT	p.H489H	TMEM39B_uc001bue.3_Silent_p.H490H|TMEM39B_uc001buf.3_Silent_p.H290H|TMEM39B_uc010ogw.1_Silent_p.H290H	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	489						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCTGGACCACCGTTTCTCCT	0.607													T	32568262	C	T	32568262	2	4	195	1	0	0	0	0	0	0	0	1	16159	506	18	4		4	TMEM39B	1	32568262	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2189	32568262	216682359	37	107141											
YARS	8565	broad.mit.edu	37	chr1	33276252	33276252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccaagggcacaccaatgCtctccagcattgctttgatc	7	14	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:33276252C>A	uc001bvy.1	-	3	1108	c.320G>T	c.(319-321)AGC>ATC	p.S107I		NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	107					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			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CACACCAATGCTCTCCAGCAT	0.498													A	33276252	C	A	33276252	3	1	195	1	0	0	0	0	1	0	0	0	17464	797	28	5	1310	5	YARS	1	33276252	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	707990	33276252	215974369	38	107142											
CSMD2	114784	broad.mit.edu	37	chr1	34042964	34042964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgggtacagatggccatgCtgtgtcccaccaggcggtag	15	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:34042964C>A	uc001bxn.1	-	50	7543	c.7514G>T	c.(7513-7515)AGC>ATC	p.S2505I	CSMD2_uc001bxm.1_Missense_Mutation_p.S2503I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2505	Sushi 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GATGGCCATGCTGTGTCCCAC	0.637													A	34042964	C	A	34042964	3	1	195	1	0	0	0	0	1	0	0	0	3945	797	28	5	3029	5	CSMD2	1	34042964	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	766712	34042964	215207657	39	107143											
CSMD2	114784	broad.mit.edu	37	chr1	34209180	34209180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacaggacaaccccagacGggctggtgaagttgaagaag	15	8	0	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:34209180G>A	uc001bxn.1	-	14	1783	c.1754C>T	c.(1753-1755)CCG>CTG	p.P585L	CSMD2_uc001bxm.1_Missense_Mutation_p.P625L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	585	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACCCCAGACGGGCTGGTGAA	0.592													A	34209180	G	A	34209180	3	1	195	1	0	0	0	0	1	0	0	0	3945	1116	39	1	8933	1	CSMD2	1	34209180	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	166216	34209180	215041441	40	107144											
DLGAP3	58512	broad.mit.edu	37	chr1	35370066	35370066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagcggccttccgaccCgcccgagcgccccttgaagc	12	18	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:35370066C>T	uc001byc.2	-	1	919	c.919G>A	c.(919-921)GGG>AGG	p.G307R		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	307					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCTTCCGACCCGCCCGAGCGC	0.662													T	35370066	C	T	35370066	3	4	195	1	0	0	0	0	1	0	0	0	4561	652	23	1	2060	1	DLGAP3	1	35370066	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1160886	35370066	213880555	41	107145											
NCDN	23154	broad.mit.edu	37	chr1	36026092	36026093	+	Frame_Shift_Ins	INS	-	-	T													tgtggccctgctggcctgctINStctgcagtgaccctgaactg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:36026091_36026092C>CT	uc001bza.3	+	3	466_467	c.339_340C>CT	c.(337-342)tgcttcfs	p.C113fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Ins_p.C113fs|NCDN_uc001bzc.3_Frame_Shift_Ins_p.C96fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	113					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)				TGCTGGCCTGCTTCTGCAGTGA	0.629													T	36026093	-	T	36026092	7	5	195	1	0	1	1	0	0	0	0	0	10214	1609	56	0	350	0	NCDN	1	36026092	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	656026	36026092	213224529	42	107146											
ADPRHL2	54936	broad.mit.edu	37	chr1	36557382	36557382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaggtgccatgcgggtgGctggcatctccctggcctat	15	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:36557382G>A	uc001bzt.2	+	3	525	c.472G>A	c.(472-474)GCT>ACT	p.A158T	ADPRHL2_uc001bzu.2_Missense_Mutation_p.A4T	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	158						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			pancreas(1)	1		Myeloproliferative disorder(586;0.0393)				CATGCGGGTGGCTGGCATCTC	0.592													A	36557382	G	A	36557382	3	1	195	1	0	0	0	0	1	0	0	0	333	1203	42	2	482	2	ADPRHL2	1	36557382	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	531290	36557382	212693239	43	107147											
C1orf113	79729	broad.mit.edu	37	chr1	36785329	36785329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaagagaacccccatGccggacaagactgccacccc	9	16	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:36785329G>A	uc010oia.1	+	14	1093	c.1065G>A	c.(1063-1065)ATG>ATA	p.M355I	C1orf113_uc010oib.1_Missense_Mutation_p.M244I|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.M1I	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	239											0		Myeloproliferative disorder(586;0.0393)				GAACCCCCATGCCGGACAAGA	0.617													A	36785329	G	A	36785329	3	1	195	1	0	0	0	0	1	0	0	0	1986	1319	46	2	1119	2	C1orf113	1	36785329	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	227947	36785329	212465292	44	107148											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948726	37948726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggattgcctggactcGggcattggctccctggagag	14	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:37948726G>A	uc001cbb.3	+	6	1464	c.1314G>A	c.(1312-1314)TCG>TCA	p.S438S	ZC3H12A_uc001cbc.1_Silent_p.S233S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	438					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTGGACTCGGGCATTGGCT	0.662													A	37948726	G	A	37948726	2	1	195	1	0	0	0	0	0	0	0	1	17558	1103	39	1		1	ZC3H12A	1	37948726	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1163397	37948726	211301895	45	107149											
INPP5B	3633	broad.mit.edu	37	chr1	38338648	38338648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaagattggctctctcAtgtaacacagtgtatgaatg	10	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:38338648A>G	uc001ccg.1	-	19	2235	c.2141T>C	c.(2140-2142)ATG>ACG	p.M714T	INPP5B_uc009vvk.1_Missense_Mutation_p.M655T|INPP5B_uc001ccf.1_Missense_Mutation_p.M550T	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	794					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			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGCTCTCTCATGTAACACAG	0.458													G	38338648	A	G	38338648	3	3	195	1	0	0	0	0	1	0	0	0	7755	217	8	3	624	3	INPP5B	1	38338648	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	389922	38338648	210911973	46	107150											
KCNQ4	9132	broad.mit.edu	37	chr1	41284205	41284205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcgtggcctcggtggcCgtcatcgccgcgggtaccca	15	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:41284205C>T	uc001cgh.1	+	4	643	c.561C>T	c.(559-561)GCC>GCT	p.A187A	KCNQ4_uc001cgi.1_Silent_p.A187A	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	187	Helical; Name=Segment S3; (Potential).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	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)			CCTCGGTGGCCGTCATCGCCG	0.706													T	41284205	C	T	41284205	2	4	195	1	0	0	0	0	0	0	0	1	8085	639	23	1		1	KCNQ4	1	41284205	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2945557	41284205	207966416	47	107151											
FOXJ3	22887	broad.mit.edu	37	chr1	42657107	42657107	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggactggagctggctgtgTtgctgtgggtgtggtgctgg	22	5	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:42657107T>C	uc001che.2	-	11	1530	c.1218A>G	c.(1216-1218)CAA>CAG	p.Q406Q	FOXJ3_uc001chf.2_Silent_p.Q406Q|FOXJ3_uc001chg.2_Silent_p.Q406Q|FOXJ3_uc001chh.1_Silent_p.Q372Q	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	406					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			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTGGCTGTGTTGCTGTGGGT	0.587													C	42657107	T	C	42657107	2	2	195	1	0	0	0	0	0	0	0	1	6013	1722	60	3		3	FOXJ3	1	42657107	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1372902	42657107	206593514	48	107152											
WDR65	149465	broad.mit.edu	37	chr1	43664312	43664312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatactctgttagaggatgcGgagaggtaaaaaaaaaactg	11	4	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:43664312G>A	uc001cip.1	+	8	1544	c.1423G>A	c.(1423-1425)GGA>AGA	p.G475R	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.G464R|WDR65_uc001ciq.1_Missense_Mutation_p.G475R	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	475	WD 7.									skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TAGAGGATGCGGAGAGGTAAA	0.408													A	43664312	G	A	43664312	3	1	195	1	0	0	0	0	1	0	0	0	17313	1117	39	1	1449	1	WDR65	1	43664312	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1007205	43664312	205586309	49	107153											
EIF2B3	8891	broad.mit.edu	37	chr1	45407190	45407190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttacctgcttttttttTccccttttgaccgggaacag	6	12	0	1	rs151056457		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:45407190T>C	uc001cmt.1	-	4	569	c.442A>G	c.(442-444)AAA>GAA	p.K148E	EIF2B3_uc001cmu.1_Missense_Mutation_p.K148E|EIF2B3_uc001cmv.1_Missense_Mutation_p.K148E|EIF2B3_uc001cmw.2_Missense_Mutation_p.K148E	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	148					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCTTTTTTTTTCCCCTTTTGA	0.338													C	45407190	T	C	45407190	3	2	195	1	0	0	0	0	1	0	0	0	5002	1792	62	3	989	3	EIF2B3	1	45407190	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1742878	45407190	203843431	50	107154											
UROD	7389	broad.mit.edu	37	chr1	45480642	45480642	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaagacggtgacattgcaGggcaacctggacccctgtgc	15	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:45480642G>T	uc001cna.1	+	9	1014	c.906G>T	c.(904-906)CAG>CAT	p.Q302H	UROD_uc001cnb.1_Missense_Mutation_p.Q267H|UROD_uc001cnc.1_Missense_Mutation_p.Q207H	NM_000374	NP_000365	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	302						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGACATTGCAGGGCAACCTGG	0.577									Porphyria_Cutanea_Tarda_Type_II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45480642	G	T	45480642	3	4	195	1	0	0	0	0	1	0	0	0	17026	991	35	5	940	5	UROD	1	45480642	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	73452	45480642	203769979	51	107155											
MMACHC	25974	broad.mit.edu	37	chr1	45973071	45973071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccagccttccacctacCgctgccaggacctaccctgg	8	20	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:45973071C>T	uc009vxv.2	+	2	274	c.125C>T	c.(124-126)CCG>CTG	p.P42L	MMACHC_uc001cny.2_RNA	NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency)	42							cobalamin binding				0	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCCACCTACCGCTGCCAGGA	0.607													T	45973071	C	T	45973071	3	4	195	1	0	0	0	0	1	0	0	0	9641	652	23	1	131	1	MMACHC	1	45973071	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	492429	45973071	203277550	52	107156											
MAST2	23139	broad.mit.edu	37	chr1	46496962	46496962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtggttccagtccaGgtatggcccagtgggcggcc	17	11	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:46496962G>T	uc001cov.2	+	23	3275	c.2992G>T	c.(2992-2994)GCT>TCT	p.A998S	MAST2_uc001cow.2_Missense_Mutation_p.A998S|MAST2_uc001coy.1_3'UTR|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	998					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTCCAGTCCAGGTATGGCCCA	0.617													T	46496962	G	T	46496962	3	4	195	1	0	0	0	0	1	0	0	0	9325	1014	35	5	3082	5	MAST2	1	46496962	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	523891	46496962	202753659	53	107157											
SPATA6	54558	broad.mit.edu	37	chr1	48771536	48771536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcatcatctttctcTaggtctctctcatcctgaaa	4	13	6	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:48771536T>C	uc001crr.1	-	12	1374	c.1209A>G	c.(1207-1209)CTA>CTG	p.L403L	SPATA6_uc001crs.1_Silent_p.L387L|SPATA6_uc010omv.1_Silent_p.L389L	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	403					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						CATCTTTCTCTAGGTCTCTCT	0.358													C	48771536	T	C	48771536	2	2	195	1	0	0	0	0	0	0	0	1	15012	1509	53	3		3	SPATA6	1	48771536	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2274574	48771536	200479085	54	107158											
ZCCHC11	23318	broad.mit.edu	37	chr1	52991321	52991321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtctgttgcttctgagatCgtggtgagttttgcagagca	13	6	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:52991321C>T	uc001ctx.2	-	2	866	c.632G>A	c.(631-633)CGA>CAA	p.R211Q	ZCCHC11_uc001cty.2_Missense_Mutation_p.R211Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R211Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.R211Q|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.R211Q|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.R211Q	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	211					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CTTCTGAGATCGTGGTGAGTT	0.383													T	52991321	C	T	52991321	3	4	195	1	0	0	0	0	1	0	0	0	17577	884	31	1	4421	1	ZCCHC11	1	52991321	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4219785	52991321	196259300	55	107159											
PODN	127435	broad.mit.edu	37	chr1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-													aacaacaagctggagaagatCcccccgggggccttcagcga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					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						CTGGAGAAGATCCCCCCGGGG	0.617													-	53543377	C	-	53543377	7	5	195	1	0	1	0	1	0	0	0	0	12178	845	30	0	929	0	PODN	1	53543377	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	552056	53543377	195707244	56	107160											
PODN	127435	broad.mit.edu	37	chr1	53544350	53544350	+	Frame_Shift_Del	DEL	A	A	-													gcaccctcatgatcctgcacAaccagatcacaggcattggc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:53544349_53544349CA>C	uc001cuv.3	+	7	1479	c.1311_1311CA>C	c.(1309-1311)cacfs	p.H437fs	PODN_uc010onr.2_Frame_Shift_Del_p.H418fs|PODN_uc010ons.2_Frame_Shift_Del_p.H295fs|PODN_uc001cuw.3_Frame_Shift_Del_p.H418fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	389					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						TGATCCTGCACAACCAGATCA	0.632													-	53544350	A	-	53544350	7	5	195	1	0	1	0	1	0	0	0	0	12178	130	5	0	1342	0	PODN	1	53544350	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	973	53544350	195706271	57	107161											
INADL	10207	broad.mit.edu	37	chr1	62237151	62237151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattggccattaatcacacGccattggatcagaacatttc	6	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:62237151G>A	uc001dab.2	+	6	687	c.573G>A	c.(571-573)ACG>ACA	p.T191T	INADL_uc009waf.1_Silent_p.T191T|INADL_uc001daa.2_Silent_p.T191T|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	191	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TTAATCACACGCCATTGGATC	0.353													A	62237151	G	A	62237151	2	1	195	1	0	0	0	0	0	0	0	1	7731	1074	38	1		1	INADL	1	62237151	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8692801	62237151	187013470	58	107162											
ANGPTL3	27329	broad.mit.edu	37	chr1	63063626	63063627	+	Frame_Shift_Ins	INS	-	-	A													cttgaaagcctcctagaagaINSaaaaattctacttcaacaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:63063625_63063626G>GA	uc001das.1	+	0	439_440	c.388_389G>GA	c.(388-390)gaafs	p.E130fs	DOCK7_uc001dan.3_Intron|DOCK7_uc001dao.3_Intron|DOCK7_uc001dap.3_Intron|DOCK7_uc001daq.3_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	Homo sapiens angiopoietin-like 3 (ANGPTL3), mRNA.	130					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						CCTCCTAGAAGAAAAAATTCTA	0.317													A	63063627	-	A	63063626	7	5	195	1	0	1	1	0	0	0	0	0	615	246	9	0	391	0	ANGPTL3	1	63063626	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	826475	63063626	186186995	59	107163											
JAK1	3716	broad.mit.edu	37	chr1	65311293	65311293	+	Frame_Shift_Del	DEL	C	C	-													gcatgaagagatccagaggaCccccttccacaaactcttcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:65311292_65311292AC>A	uc001dbu.1	-	14	2268	c.2019_2019GT>T	c.(2017-2019)ggtfs	p.G673fs	JAK1_uc009wam.1_Frame_Shift_Del_p.G673fs|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	673	Protein kinase 1.				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)		GATCCAGAGGACCCCCTTCCA	0.507			Mis		ALL								-	65311293	C	-	65311293	7	5	195	1	0	1	0	1	0	0	0	0	7937	507	18	0	1490	0	JAK1	1	65311293	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	2247667	65311293	183939328	60	107164											
PDE4B	5142	broad.mit.edu	37	chr1	66834549	66834549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcggcaatggacagaccGcatcatggaggaatttttcc	11	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:66834549G>A	uc001dcn.2	+	16	1933	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	PDE4B_uc009war.2_Missense_Mutation_p.R489H|PDE4B_uc001dco.2_Missense_Mutation_p.R581H|PDE4B_uc001dcp.2_Missense_Mutation_p.R566H|PDE4B_uc001dcq.2_Missense_Mutation_p.R409H|PDE4B_uc009was.2_Missense_Mutation_p.R348H	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	581					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGACAGACCGCATCATGGAG	0.478													A	66834549	G	A	66834549	3	1	195	1	0	0	0	0	1	0	0	0	11640	1087	38	1	2158	1	PDE4B	1	66834549	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1523256	66834549	182416072	61	107165											
PTGFR	5737	broad.mit.edu	37	chr1	78958817	78958817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaggcagtgtgatggCcattgagcggtgtattggag	15	6	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:78958817C>A	uc001din.2	+	2	655	c.389C>A	c.(388-390)GCC>GAC	p.A130D	PTGFR_uc001dim.2_Missense_Mutation_p.A130D	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	130	Helical; Name=3; (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGTGTGATGGCCATTGAGCGG	0.408													A	78958817	C	A	78958817	3	1	195	1	0	0	0	0	1	0	0	0	12749	739	26	5	391	5	PTGFR	1	78958817	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	12124268	78958817	170291804	62	107166											
PRKACB	5567	broad.mit.edu	37	chr1	84647913	84647913	+	Frame_Shift_Del	DEL	A	A	-													gacttgaagattttgaaaggAaaaaaacccttggaacaggt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:84647912_84647912GA>G	uc001djl.3	+	2	372	c.279_279GA>G	c.(277-279)aggfs	p.R93fs	PRKACB_uc001djj.3_Frame_Shift_Del_p.R46fs|PRKACB_uc001djn.3_Frame_Shift_Del_p.R50fs|PRKACB_uc010oru.2_Frame_Shift_Del_p.R34fs|PRKACB_uc010ort.2_Frame_Shift_Del_p.R53fs|PRKACB_uc001djp.3_Frame_Shift_Del_p.R52fs|PRKACB_uc001djq.3_Frame_Shift_Del_p.R49fs|PRKACB_uc010orv.2_Frame_Shift_Del_p.R33fs|PRKACB_uc001dji.3_Frame_Shift_Del_p.R46fs|PRKACB_uc009wcf.2_Frame_Shift_Del_p.R52fs	NM_182948	NP_891993	P22694	KAPCB_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, beta (PRKACB), transcript variant 1, mRNA.	46	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|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|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)		ATTTTGAAAGGAAAAAAACCC	0.308													-	84647913	A	-	84647913	7	5	195	1	0	1	0	1	0	0	0	0	12498	247	9	0	340	0	PRKACB	1	84647913	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	5689096	84647913	164602708	63	107167											
PKN2	5586	broad.mit.edu	37	chr1	89206848	89206848	+	Frame_Shift_Del	DEL	A	A	-													tgaggaaagtcacaacagatAaaaaaagtttggcttatgta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:89206847_89206847TA>T	uc001dmn.3	+	1	567	c.225_225TA>T	c.(223-225)gatfs	p.D75fs	PKN2_uc010osp.2_Frame_Shift_Del_p.D75fs|PKN2_uc010osq.2_Intron|PKN2_uc009wcv.3_Frame_Shift_Del_p.D75fs	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	75					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)		TCACAACAGATAAAAAAAGTT	0.308													-	89206848	A	-	89206848	7	5	195	1	0	1	0	1	0	0	0	0	11980	363	13	0	232	0	PKN2	1	89206848	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4558935	89206848	160043773	64	107168											
GBP1	2633	broad.mit.edu	37	chr1	89523904	89523904	+	Frame_Shift_Del	DEL	T	T	-													ggcaggttaaaagtttcatcTttttgactggtacctagaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:89523903_89523903CT>C	uc001dmx.2	-	5	866	c.646_646AG>G	c.(646-648)gatfs	p.D216fs		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	216					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)		AAAGTTTCATCTTTTTGACTG	0.368													-	89523904	T	-	89523904	7	5	195	1	0	1	0	1	0	0	0	0	6273	1606	56	0	1157	0	GBP1	1	89523904	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	317056	89523904	159726717	65	107169											
GBP7	388646	broad.mit.edu	37	chr1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C													cttctaagtagatattgtgcINSccccccggaacaaagaaagt					rs138127555		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						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)		TAGATATTGTGCCCCCCCGGAA	0.436													C	89613323	-	C	89613322	7	5	195	1	0	1	1	0	0	0	0	0	6279	726	26	0	639	0	GBP7	1	89613322	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	89418	89613322	159637299	66	107170											
GBP6	163351	broad.mit.edu	37	chr1	89849285	89849285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgcagtcagataaagcCctcactgatagagagaaggc	10	9	3	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:89849285C>T	uc001dnf.2	+	9	1714	c.1440C>T	c.(1438-1440)GCC>GCT	p.A480A	GBP6_uc010ost.1_Silent_p.A350A	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	480							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATAAAGCCCTCACTGATA	0.473													T	89849285	C	T	89849285	2	4	195	1	0	0	0	0	0	0	0	1	6278	610	22	4		4	GBP6	1	89849285	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	235963	89849285	159401336	67	107171											
LRRC8D	55144	broad.mit.edu	37	chr1	90398726	90398726	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatggattacctagctgtTgttatgttaatggtagccat	9	5	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:90398726T>C	uc001dnm.2	+	3	524	c.99T>C	c.(97-99)GTT>GTC	p.V33V	LRRC8D_uc001dnn.2_Silent_p.V33V	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	33	Helical; (Potential).					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACCTAGCTGTTGTTATGTTAA	0.428													C	90398726	T	C	90398726	2	2	195	1	0	0	0	0	0	0	0	1	9024	1799	63	3		3	LRRC8D	1	90398726	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	549441	90398726	158851895	68	107172											
LRRC8D	55144	broad.mit.edu	37	chr1	90400443	90400443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaaagttccctccaacAttacagatgtggctccacat	6	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:90400443A>G	uc001dnm.2	+	3	2241	c.1816A>G	c.(1816-1818)ATT>GTT	p.I606V	LRRC8D_uc001dnn.2_Missense_Mutation_p.I606V	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	606	LRR 4.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCCCTCCAACATTACAGATGT	0.413													G	90400443	A	G	90400443	3	3	195	1	0	0	0	0	1	0	0	0	9024	217	8	3	1818	3	LRRC8D	1	90400443	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1717	90400443	158850178	69	107173											
EVI5	7813	broad.mit.edu	37	chr1	92979232	92979232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagacagtggttgaatacGactctcttcttctcgggggc	12	10	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:92979232G>A	uc001dox.2	-	18	2424	c.2414C>T	c.(2413-2415)TCG>TTG	p.S805L	EVI5_uc010otf.1_Missense_Mutation_p.S816L	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	805	Targeting to the centrosomes.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		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)		GGTTGAATACGACTCTCTTCT	0.448													A	92979232	G	A	92979232	3	1	195	1	0	0	0	0	1	0	0	0	5289	1059	37	1	22	1	EVI5	1	92979232	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2578789	92979232	156271389	70	107174											
RPL5	6125	broad.mit.edu	37	chr1	93303108	93303108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatgttgcagattacaTgcgctacttaatggaagaag	10	7	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:93303108T>C	uc001doz.2	+	6	701	c.623T>C	c.(622-624)ATG>ACG	p.M208T	FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.M158T|RPL5_uc001dpd.2_Missense_Mutation_p.M9T	NM_000969	NP_000960	P46777	RL5_HUMAN	ribosomal protein L5	208					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome				0		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCAGATTACATGCGCTACTTA	0.378													C	93303108	T	C	93303108	3	2	195	1	0	0	0	0	1	0	0	0	13597	1464	51	3	645	3	RPL5	1	93303108	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	323876	93303108	155947513	71	107175											
CNN3	1266	broad.mit.edu	37	chr1	95368702	95368702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagttcagtgaggactcGttgaccttcttcactgagcc	11	12	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:95368702G>A	uc010otw.1	-	4	304	c.222C>T	c.(220-222)AAC>AAT	p.N74N	CNN3_uc010otv.1_Silent_p.N33N|CNN3_uc001dqz.3_Silent_p.N74N|CNN3_uc010otx.1_Silent_p.N74N	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	74	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTGAGGACTCGTTGACCTTCT	0.403													A	95368702	G	A	95368702	2	1	195	1	0	0	0	0	0	0	0	1	3611	1136	40	1		1	CNN3	1	95368702	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2065594	95368702	153881919	72	107176											
DPYD	1806	broad.mit.edu	37	chr1	98165043	98165044	+	Frame_Shift_Ins	INS	-	-	T													gcagaataggcttcagacatINStttttctgggggaggcagcg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:98165042_98165043A>AT	uc001drv.3	-	5	681_682	c.544_545T>AT	c.(544-546)atgfs	p.M182fs	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	182					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion 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)	GGCTTCAGACATTTTTTCTGGG	0.426													T	98165044	-	T	98165043	7	5	195	1	0	1	1	0	0	0	0	0	4745	1493	52	0	2605	0	DPYD	1	98165043	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	2796341	98165043	151085578	73	107177											
DBT	1629	broad.mit.edu	37	chr1	100684226	100684226	+	Frame_Shift_Del	DEL	T	T	-													aactgcaggagttgccagtgTttttcggccctttatctctt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:100684225_100684225GT>G	uc001dta.3	-	4	545	c.512_512AC>C	c.(511-513)acafs	p.T171fs	DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Frame_Shift_Del_p.T171fs	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	171					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGTTGCCAGTGTTTTTCGGCC	0.388													-	100684226	T	-	100684226	7	5	195	1	0	1	0	1	0	0	0	0	4258	1725	60	0	965	0	DBT	1	100684226	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	2519183	100684226	148566395	74	107178											
PRMT6	55170	broad.mit.edu	37	chr1	107599519	107599519	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtccacgaggagatgaTcgcggaccgcgtccgcaccg	14	14	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:107599519T>A	uc010ous.1	+	1	253	c.182T>A	c.(181-183)ATC>AAC	p.I61N		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	61					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GAGGAGATGATCGCGGACCGC	0.677													A	107599519	T	A	107599519	3	1	195	1	0	0	0	0	1	0	0	0	12540	1435	50	5	184	5	PRMT6	1	107599519	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	6915293	107599519	141651102	75	107179											
VAV3	10451	broad.mit.edu	37	chr1	108303435	108303435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtactttaaaacacGttgcataggaaccacaagca	9	8	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:108303435G>A	uc001dvk.1	-	10	1042	c.988C>T	c.(988-990)CGT>TGT	p.R330C	VAV3_uc010ouw.1_Missense_Mutation_p.R330C|VAV3_uc001dvl.1_Missense_Mutation_p.R154C|VAV3_uc010oux.1_Missense_Mutation_p.R330C	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	330	DH.				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			ovary(5)|lung(2)|breast(2)	9		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)		TTTAAAACACGTTGCATAGGA	0.279													A	108303435	G	A	108303435	3	1	195	1	0	0	0	0	1	0	0	0	17130	1145	40	1	1652	1	VAV3	1	108303435	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	703916	108303435	140947186	76	107180											
AMPD2	271	broad.mit.edu	37	chr1	110170866	110170866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgaatctcacggcctaCgacctgagtgtggacacgct	11	12	1	2	rs114727970	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:110170866C>T	uc009wfh.1	+	11	1946	c.1404C>T	c.(1402-1404)TAC>TAT	p.Y468Y	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.Y387Y|AMPD2_uc001dyc.1_Silent_p.Y468Y|AMPD2_uc010ovr.1_Silent_p.Y393Y|AMPD2_uc010ovs.1_Silent_p.Y350Y|AMPD2_uc001dyd.1_Silent_p.Y349Y|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	468					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		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)		TCACGGCCTACGACCTGAGTG	0.622													T	110170866	C	T	110170866	2	4	195	1	0	0	0	0	0	0	0	1	586	547	19	1		1	AMPD2	1	110170866	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1867431	110170866	139079755	77	107181											
AMPD2	271	broad.mit.edu	37	chr1	110173650	110173650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaatgtgccagacatccGcgtgggctaccgctacgaga	12	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:110173650G>A	uc009wfh.1	+	19	3058	c.2516G>A	c.(2515-2517)CGC>CAC	p.R839H	AMPD2_uc001dyb.1_Missense_Mutation_p.R758H|AMPD2_uc001dyc.1_Missense_Mutation_p.R839H|AMPD2_uc010ovr.1_Missense_Mutation_p.R764H|AMPD2_uc001dyd.1_Missense_Mutation_p.R720H|AMPD2_uc001dye.1_Missense_Mutation_p.R108H	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	839					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		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)		CCAGACATCCGCGTGGGCTAC	0.617													A	110173650	G	A	110173650	3	1	195	1	0	0	0	0	1	0	0	0	586	1087	38	1	2627	1	AMPD2	1	110173650	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2784	110173650	139076971	78	107182											
KCNA3	3738	broad.mit.edu	37	chr1	111217053	111217053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtcgcccagcagcgtctCggggaactggcaaagggtct	17	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:111217053C>T	uc001dzv.1	-	1	603	c.379G>A	c.(379-381)GAG>AAG	p.E127K		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	127						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		AGCAGCGTCTCGGGGAACTGG	0.672													T	111217053	C	T	111217053	3	4	195	1	0	0	0	0	1	0	0	0	8004	893	31	1	1352	1	KCNA3	1	111217053	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1043403	111217053	138033568	79	107183											
CHIA	27159	broad.mit.edu	37	chr1	111857901	111857901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccctcagtttcactgcCatggtttctactcctgagaa	7	13	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:111857901C>T	uc001eas.2	+	6	427	c.324C>T	c.(322-324)GCC>GCT	p.A108A	CHIA_uc001ear.2_5'UTR|CHIA_uc001eaq.2_5'UTR|CHIA_uc009wgc.2_5'UTR|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	108					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			ovary(1)	1		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)		GTTTCACTGCCATGGTTTCTA	0.517													T	111857901	C	T	111857901	2	4	195	1	0	0	0	0	0	0	0	1	3342	581	21	4		4	CHIA	1	111857901	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	640848	111857901	137392720	80	107184											
DDX20	11218	broad.mit.edu	37	chr1	112305362	112305362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctggatgtaccattggatTgggagacatacatgcatcgg	12	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:112305362T>C	uc001ebs.2	+	9	1525	c.1168T>C	c.(1168-1170)TGG>CGG	p.W390R	DDX20_uc010owf.1_Missense_Mutation_p.W152R|DDX20_uc001ebt.2_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	390	Helicase C-terminal.				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			lung(1)|kidney(1)	2		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)		ACCATTGGATTGGGAGACATA	0.383													C	112305362	T	C	112305362	3	2	195	1	0	0	0	0	1	0	0	0	4348	1812	63	3	1202	3	DDX20	1	112305362	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	447461	112305362	136945259	81	107185											
PPM1J	333926	broad.mit.edu	37	chr1	113253204	113253204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacatcatctgggcagtgCtcatattgtgtcaggtcata	10	9	5	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:113253204C>T	uc001ect.1	-	9	1275	c.1248G>A	c.(1246-1248)GAG>GAA	p.E416E	PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Silent_p.E210E	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	protein phosphatase 1J (PP2C domain containing)	416	PP2C-like.									breast(2)|central_nervous_system(1)	3	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)		CTGGGCAGTGCTCATATTGTG	0.547													T	113253204	C	T	113253204	2	4	195	1	0	0	0	0	0	0	0	1	12342	796	28	2		2	PPM1J	1	113253204	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	947842	113253204	135997417	82	107186											
TRIM33	51592	broad.mit.edu	37	chr1	114976275	114976277	+	In_Frame_Del	DEL	TTC	TTC	-													tagctgcaaaatgaacataaTtcttcttctcaagaagtttc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:114976274_114976276ATTC>A	uc001eew.3	-	4	1087_1089	c.1003_1005GAAT>T	c.(1003-1005)aat>T	p.N335del	TRIM33_uc010ows.2_5'UTR|TRIM33_uc001eex.3_In_Frame_Del_p.N335del	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	335	Necessary for oligomerization.				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	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding	p.K334delK(2)		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)		AATGAACATAATTCTTCTTCTCA	0.33			T	RET	papillary thyroid								-	114976277	TTC	-	114976275	7	5	195	1	0	1	0	1	0	0	0	0	16504	1493	52	0	2443	0	TRIM33	1	114976275	In_Frame_Del	DEL	TTC	TCGA-CG-5728-01A-11D-1600-08	1723071	114976275	134274346	83	107187											
VANGL1	81839	broad.mit.edu	37	chr1	116206712	116206712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgcattttggactctcGggaccggaattaccagggca	13	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:116206712G>A	uc001efv.1	+	4	906	c.635G>A	c.(634-636)CGG>CAG	p.R212Q	VANGL1_uc009wgy.1_Missense_Mutation_p.R210Q|VANGL1_uc001efw.1_Missense_Mutation_p.R212Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	212	Extracellular (Potential).				multicellular organismal development	integral to membrane	protein binding	p.R212W(1)		central_nervous_system(1)	1	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)		TTGGACTCTCGGGACCGGAAT	0.517													A	116206712	G	A	116206712	3	1	195	1	0	0	0	0	1	0	0	0	17116	1116	39	1	645	1	VANGL1	1	116206712	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1230437	116206712	133043909	84	107188											
IGSF3	3321	broad.mit.edu	37	chr1	117122481	117122481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcattggggaccactgtgTccacctgcagggaagcatct	13	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:117122481T>G	uc001egr.1	-	10	3572	c.2867A>C	c.(2866-2868)GAC>GCC	p.D956A	IGSF3_uc001egq.1_Missense_Mutation_p.D976A	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	956	Ig-like C2-type 8.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		GACCACTGTGTCCACCTGCAG	0.473													G	117122481	T	G	117122481	3	3	195	1	0	0	0	0	1	0	0	0	7601	1667	58	5	725	5	IGSF3	1	117122481	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	915769	117122481	132128140	85	107189											
NOTCH2	4853	broad.mit.edu	37	chr1	120465373	120465373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtcttgaacacactggcGgttgtcaatttccagaaaga	10	8	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:120465373G>A	uc001eik.2	-	27	5144	c.4888C>T	c.(4888-4890)CGC>TGC	p.R1630C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1630	Negative regulatory region (NRR).|Extracellular (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	p.R1630L(1)		lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		ACACACTGGCGGTTGTCAATT	0.542			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120465373	G	A	120465373	3	1	195	1	0	0	0	0	1	0	0	0	10548	1116	39	1	2559	1	NOTCH2	1	120465373	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3342892	120465373	128785248	86	107190											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767651	143767651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccattagggtgtgtgaaGtcaccaccctgacacataaa	10	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:143767651G>A	uc001ejt.2	-	1	231	c.198C>T	c.(196-198)GAC>GAT	p.D66D		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	66	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						GGTGTGTGAAGTCACCACCCT	0.458													A	143767651	G	A	143767651	2	1	195	1	0	0	0	0	0	0	0	1	12318	1020	36	4		4	PPIAL4G	1	143767651	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	23302278	143767651	105482970	87	107191											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015864	145015864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcacatgacttaccttcTcaaagtctcgaagagcctgg	7	13	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:145015864T>C	uc001elx.3	-	3	559	c.224A>G	c.(223-225)GAG>GGG	p.E75G	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.E75G|PDE4DIP_uc001elo.2_Missense_Mutation_p.E146G|PDE4DIP_uc001emh.2_Missense_Mutation_p.E146G|uc001emj.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTTACCTTCTCAAAGTCTCG	0.438			T	PDGFRB	MPD								C	145015864	T	C	145015864	3	2	195	1	0	0	0	0	1	0	0	0	11643	1551	54	3	8367	3	PDE4DIP	1	145015864	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1248213	145015864	104234757	88	107192											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784833	149784833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaatatgccttaggccCgctccccgcggatgcggcgg	12	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:149784833C>T	uc010pbl.1	-	1	404	c.404G>A	c.(403-405)CGG>CAG	p.R135Q	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	135					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						GCCTTAGGCCCGCTCCCCGCG	0.572													T	149784833	C	T	149784833	3	4	195	1	0	0	0	0	1	0	0	0	7181	652	23	1	8	1	HIST2H3D	1	149784833	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4768969	149784833	99465788	89	107193											
SV2A	9900	broad.mit.edu	37	chr1	149884981	149884981	+	Frame_Shift_Del	DEL	C	C	-													ttctttccgtcgttgtgcctCcccccggcccccagggggac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:149884980_149884980TC>T	uc001etg.3	-	1	904	c.413_413GA>A	c.(412-414)gagfs	p.E138fs	SV2A_uc001eth.2_Frame_Shift_Del_p.E138fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	138					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.G137W(1)		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)	TCGTTGTGCCTCCCCCCGGCC	0.637													-	149884981	C	-	149884981	7	5	195	1	0	1	0	1	0	0	0	0	15414	864	30	0	1864	0	SV2A	1	149884981	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	100148	149884981	99365640	90	107194											
RPRD2	23248	broad.mit.edu	37	chr1	150445612	150445612	+	Frame_Shift_Del	DEL	C	C	-													ggcagcaacagcagcagtggCccccccttgggtccctcaca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:150445611_150445611GC>G	uc009wlr.3	+	10	4388	c.4187_4187GC>G	c.(4186-4188)ggcfs	p.G1396fs	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Frame_Shift_Del_p.G1370fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1396	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						AGCAGCAGTGGCCCCCCCTTG	0.617													-	150445612	C	-	150445612	7	5	195	1	0	1	0	1	0	0	0	0	13617	726	26	0	4230	0	RPRD2	1	150445612	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	560631	150445612	98805009	91	107195											
LASS2	29956	broad.mit.edu	37	chr1	150940936	150940936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttgggaggtgcccgcaGccgagttttctcctttatgt	14	10	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:150940936G>A	uc001evy.2	-	3	613	c.226C>T	c.(226-228)CTG>TTG	p.L76L	LASS2_uc001evz.2_Silent_p.L76L|LASS2_uc009wmh.2_5'UTR	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	LAG1 longevity assurance 2	76	Cytoplasmic (Potential).|Homeobox.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|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)			GGTGCCCGCAGCCGAGTTTTC	0.552													A	150940936	G	A	150940936	2	1	195	1	0	0	0	0	0	0	0	1	8639	962	34	2		2	LASS2	1	150940936	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	495324	150940936	98309685	92	107196											
ANXA9	8416	broad.mit.edu	37	chr1	150959137	150959137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagaacaagatgtccaGgtgagcagggggtttaggag	17	6	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:150959137G>T	uc001ewa.2	+	9	1082	c.612G>T	c.(610-612)CAG>CAT	p.Q204H		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	204	Annexin 3.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	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)			AAGATGTCCAGGTGAGCAGGG	0.527													T	150959137	G	T	150959137	3	4	195	1	0	0	0	0	1	0	0	0	725	1014	35	5	638	5	ANXA9	1	150959137	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	18201	150959137	98291484	93	107197											
FAM63A	55793	broad.mit.edu	37	chr1	150971889	150971889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgtttcggaaaaagaCgctaagttcaccctccttag	10	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:150971889C>T	uc001ewf.2	-	8	2621	c.937G>A	c.(937-939)GTC>ATC	p.V313I	FAM63A_uc001ewc.2_Missense_Mutation_p.V171I|FAM63A_uc010pcm.1_Missense_Mutation_p.V218I|FAM63A_uc001ewd.2_Missense_Mutation_p.V171I|FAM63A_uc001ewe.2_Missense_Mutation_p.V147I|FAM63A_uc010pcn.1_Missense_Mutation_p.V361I|FAM63A_uc001ewg.2_Missense_Mutation_p.V313I	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	313							protein binding			ovary(1)	1	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)			CGGAAAAAGACGCTAAGTTCA	0.542													T	150971889	C	T	150971889	3	4	195	1	0	0	0	0	1	0	0	0	5596	536	19	1	488	1	FAM63A	1	150971889	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	12752	150971889	98278732	94	107198											
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131333	151131334	+	Frame_Shift_Ins	INS	-	-	C													ggagtacacgcacagccggcINScccaggcccagcgcgtgatc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:151131332_151131333G>GC	uc021oyl.1	+	0	159_160	c.159_160G>GC	c.(157-162)cggcccfs	p.R53fs	TNFAIP8L2_uc001ewx.2_Frame_Shift_Ins_p.R53fs|SCNM1_uc021oyk.1_Intron	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 2 (TNFAIP8L2), mRNA.	53					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)			CGCACAGCCGGCCCCAGGCCCA	0.599													C	151131334	-	C	151131333	7	5	195	1	0	1	1	0	0	0	0	0	16275	739	26	0	162	0	TNFAIP8L2	1	151131333	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	159444	151131333	98119288	95	107199											
PIP5K1A	8394	broad.mit.edu	37	chr1	151206963	151206963	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtaagaccctgcagcgTgactgtttggtgagtttgtt	12	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:151206963T>C	uc001exj.2	+	8	1382	c.930T>C	c.(928-930)CGT>CGC	p.R310R	PIP5K1A_uc001exi.2_Silent_p.R297R|PIP5K1A_uc010pcu.1_Silent_p.R298R|PIP5K1A_uc001exk.2_Silent_p.R297R|PIP5K1A_uc010pcv.1_Silent_p.R67R	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	310	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	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;0.181)			CCCTGCAGCGTGACTGTTTGG	0.403													C	151206963	T	C	151206963	2	2	195	1	0	0	0	0	0	0	0	1	11939	1683	59	3		3	PIP5K1A	1	151206963	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	75630	151206963	98043658	96	107200											
ZNF687	57592	broad.mit.edu	37	chr1	151259493	151259493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaaggctcaggctccagCcctaaggccacggacatccc	9	17	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:151259493C>T	uc001exq.2	+	2	824	c.726C>T	c.(724-726)AGC>AGT	p.S242S	ZNF687_uc001exp.1_Silent_p.S251S|ZNF687_uc009wmo.2_Silent_p.S242S|ZNF687_uc009wmp.2_Silent_p.S242S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	242	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			CAGGCTCCAGCCCTAAGGCCA	0.642													T	151259493	C	T	151259493	2	4	195	1	0	0	0	0	0	0	0	1	18089	738	26	2		2	ZNF687	1	151259493	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	52530	151259493	97991128	97	107201											
RORC	6097	broad.mit.edu	37	chr1	151785515	151785515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaagtcaaagatggagCtgatgagctcgctgcagcct	15	8	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:151785515C>T	uc001ezh.2	-	9	1301	c.1193G>A	c.(1192-1194)AGC>AAC	p.S398N	RORC_uc001ezg.2_Missense_Mutation_p.S377N|RORC_uc010pdo.1_Missense_Mutation_p.S452N|RORC_uc010pdp.1_Missense_Mutation_p.S386N	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	398	Ligand-binding.				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			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGATGGAGCTGATGAGCTC	0.527													T	151785515	C	T	151785515	3	4	195	1	0	0	0	0	1	0	0	0	13530	797	28	2	375	2	RORC	1	151785515	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	526022	151785515	97465106	98	107202											
NUP210L	91181	broad.mit.edu	37	chr1	154042791	154042791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatcttttgctaccaTttccactgatttataatctt	3	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:154042791T>C	uc001fdw.2	-	17	2584	c.2512A>G	c.(2512-2514)ATG>GTG	p.M838V	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.M838V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	838						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	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)			TTTGCTACCATTTCCACTGAT	0.338													C	154042791	T	C	154042791	3	2	195	1	0	0	0	0	1	0	0	0	10761	1493	52	3	3250	3	NUP210L	1	154042791	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2257276	154042791	95207830	99	107203											
UBE2Q1	55585	broad.mit.edu	37	chr1	154524458	154524459	+	Splice_Site	DEL	GA	GA	-													gtcaaagggaaagttatcctGagagagagagagacgacaat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:154524457_154524458TGA>T	uc001fff.1	-	9	1058	c.967_splice	c.e9-1	p.D323_splice		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	323							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)			AAAGTTATCCTGAGAGAGAGAG	0.574													-	154524459	GA	-	154524458	8	5	195	1	0	1	0	1	0	0	1	0	16866	1305	45	0		0	UBE2Q1	1	154524458	Splice_Site	DEL	GA	TCGA-CG-5728-01A-11D-1600-08	481667	154524458	94726163	100	107204											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987838	154987838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccatcccttgacctatgaGgaggaggaggtggcgggcag	17	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:154987838G>T	uc001fgk.3	+	3	860	c.702G>T	c.(700-702)GAG>GAT	p.E234D	ZBTB7B_uc009wpa.2_Missense_Mutation_p.E234D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E268D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E268D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E234D	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	234					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			TGACCTATGAGGAGGAGGAGG	0.672													T	154987838	G	T	154987838	3	4	195	1	0	0	0	0	1	0	0	0	17551	991	35	5	704	5	ZBTB7B	1	154987838	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	463380	154987838	94262783	101	107205											
YY1AP1	55249	broad.mit.edu	37	chr1	155629928	155629928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggttaaccaagagggtGgcgatgggaatagtctgggg	19	4	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:155629928G>A	uc001fln.2	-	11	1935	c.1911C>T	c.(1909-1911)GCC>GCT	p.A637A	YY1AP1_uc001flg.2_Silent_p.A376A|YY1AP1_uc010pgg.1_Silent_p.A476A|YY1AP1_uc010pgh.1_Silent_p.A580A|YY1AP1_uc010pgi.1_Silent_p.A729A|YY1AP1_uc001flh.2_Silent_p.A709A|YY1AP1_uc009wqt.2_Silent_p.A560A|YY1AP1_uc001flk.2_Silent_p.A580A|YY1AP1_uc001fll.2_Silent_p.A591A|YY1AP1_uc009wqv.2_Silent_p.A308A|YY1AP1_uc001flm.2_Silent_p.A580A|YY1AP1_uc001fli.2_Silent_p.A591A|YY1AP1_uc009wqu.2_Silent_p.A424A|YY1AP1_uc001flj.2_Silent_p.A571A|YY1AP1_uc009wqw.2_Silent_p.A560A|YY1AP1_uc001flo.2_Silent_p.A525A|YY1AP1_uc001flp.2_Silent_p.A591A	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	637					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCAAGAGGGTGGCGATGGGAA	0.537													A	155629928	G	A	155629928	2	1	195	1	0	0	0	0	0	0	0	1	17505	1335	47	4		4	YY1AP1	1	155629928	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	642090	155629928	93620693	102	107206											
GON4L	54856	broad.mit.edu	37	chr1	155726824	155726824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatcttgggaggctcctcCtcttcttccacatcaggcag	10	13	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:155726824C>T	uc001flz.2	-	27	5539	c.5442G>A	c.(5440-5442)GAG>GAA	p.E1814E	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.E1814E|GON4L_uc009wrh.1_Silent_p.E1814E|GON4L_uc001fma.1_Silent_p.E1814E|GON4L_uc001fmb.3_Silent_p.E1010E	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1814					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGGCTCCTCCTCTTCTTCCA	0.448													T	155726824	C	T	155726824	2	4	195	1	0	0	0	0	0	0	0	1	6572	680	24	4		4	GON4L	1	155726824	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	96896	155726824	93523797	103	107207											
MEX3A	92312	broad.mit.edu	37	chr1	156047022	156047022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccccgccaggaagtcGttttcattgttgtactcgag	12	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:156047022G>A	uc001fnd.3	-	2	906	c.906C>T	c.(904-906)AAC>AAT	p.N302N		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	302						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCAGGAAGTCGTTTTCATTGT	0.657													A	156047022	G	A	156047022	2	1	195	1	0	0	0	0	0	0	0	1	9509	1136	40	1		1	MEX3A	1	156047022	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	320198	156047022	93203599	104	107208											
BCAN	63827	broad.mit.edu	37	chr1	156616629	156616629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgcatcgcgggcgacgCgccactgcagggcgtgctcg	17	15	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:156616629C>T	uc001fpp.2	+	3	464	c.128C>T	c.(127-129)GCG>GTG	p.A43V	BCAN_uc001fpo.2_Missense_Mutation_p.A43V	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	43	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCGGGCGACGCGCCACTGCAG	0.721													T	156616629	C	T	156616629	3	4	195	1	0	0	0	0	1	0	0	0	1345	768	27	1	134	1	BCAN	1	156616629	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	569607	156616629	92633992	105	107209											
NES	10763	broad.mit.edu	37	chr1	156641614	156641614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcctggtcaagagacTtcagtggttctagatccact	8	11	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:156641614T>G	uc001fpq.2	-	4	2499	c.2366A>C	c.(2365-2367)AAG>ACG	p.K789T		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	789	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			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCAAGAGACTTCAGTGGTTC	0.423													G	156641614	T	G	156641614	3	3	195	1	0	0	0	0	1	0	0	0	10337	1609	56	5	2503	5	NES	1	156641614	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	24985	156641614	92609007	106	107210											
INSRR	3645	broad.mit.edu	37	chr1	156819062	156819062	+	Frame_Shift_Del	DEL	G	G	-													ggcgcggtctccgttggtgcGggggttgatctcagccttgt					rs67711891		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:156819061_156819061CG>C	uc010pht.2	-	5	1720	c.1421_1421CG>G	c.(1420-1422)cgcfs	p.R474fs	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	474					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)					TCCGTTGGTGCGGGGGTTGAT	0.647													-	156819062	G	-	156819062	7	5	195	1	0	1	0	1	0	0	0	0	7774	1116	39	0	2540	0	INSRR	1	156819062	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	177448	156819062	92431559	107	107211											
INSRR	3645	broad.mit.edu	37	chr1	156821927	156821927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcagccccccaggcattCggtgtggcagcactcgcccc	12	18	0	0	rs140347940		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:156821927C>T	uc010pht.1	-	3	948	c.694G>A	c.(694-696)GAA>AAA	p.E232K	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.E232K	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	232					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			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGGCATTCGGTGTGGCAG	0.672													T	156821927	C	T	156821927	3	4	195	1	0	0	0	0	1	0	0	0	7774	893	31	1	3278	1	INSRR	1	156821927	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2865	156821927	92428694	108	107212											
CD5L	922	broad.mit.edu	37	chr1	157803265	157803265	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctccagtcgcccagagcaGaggttgtctcctcctactag	9	15	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:157803265G>T	uc001frk.3	-	5	899	c.756C>A	c.(754-756)CTC>CTA	p.L252L		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	252	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCCAGAGCAGAGGTTGTCTC	0.537													T	157803265	G	T	157803265	2	4	195	1	0	0	0	0	0	0	0	1	3027	929	33	5		5	CD5L	1	157803265	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	981338	157803265	91447356	109	107213											
KIRREL	55243	broad.mit.edu	37	chr1	158058203	158058203	+	Frame_Shift_Del	DEL	C	C	-													cctgtgtctgggttgggaatCcccccctcactctcacctgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:158058202_158058202TC>T	uc001frn.4	+	7	1406	c.1002_1002TC>T	c.(1000-1002)aatfs	p.N334fs	KIRREL_uc010pib.2_Frame_Shift_Del_p.N234fs|KIRREL_uc009wsq.3_Frame_Shift_Del_p.N170fs|KIRREL_uc001fro.4_Frame_Shift_Del_p.N132fs	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	334	Ig-like C2-type 4.					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)					GGGTTGGGAATCCCCCCCTCA	0.453													-	158058203	C	-	158058203	7	5	195	1	0	1	0	1	0	0	0	0	8324	855	30	0	1033	0	KIRREL	1	158058203	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	254938	158058203	91192418	110	107214											
KIRREL	55243	broad.mit.edu	37	chr1	158063221	158063221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtattcttcctctacCggcgccgcaaaggcagtgag	11	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:158063221C>T	uc001frn.3	+	12	1968	c.1564C>T	c.(1564-1566)CGG>TGG	p.R522W	KIRREL_uc010pib.1_Missense_Mutation_p.R422W|KIRREL_uc009wsq.2_Missense_Mutation_p.R358W|KIRREL_uc001fro.3_Missense_Mutation_p.R336W	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	522	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CTTCCTCTACCGGCGCCGCAA	0.592													T	158063221	C	T	158063221	3	4	195	1	0	0	0	0	1	0	0	0	8324	643	23	1	1610	1	KIRREL	1	158063221	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5018	158063221	91187400	111	107215											
CASQ1	844	broad.mit.edu	37	chr1	160165298	160165298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagtttcatccctacatcCccttcttcgccaccttcgac	5	17	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:160165298C>A	uc010pja.1	+	5	882	c.625C>A	c.(625-627)CCC>ACC	p.P209T		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	209						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCTACATCCCCTTCTTCGC	0.562													A	160165298	C	A	160165298	3	1	195	1	0	0	0	0	1	0	0	0	2680	623	22	5	643	5	CASQ1	1	160165298	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2102077	160165298	89085323	112	107216											
ARHGAP30	257106	broad.mit.edu	37	chr1	161026241	161026241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctctgaaataggccttGcacagggaggagacgcagtg	14	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:161026241G>A	uc001fxl.2	-	3	628	c.282C>T	c.(280-282)TGC>TGT	p.C94C	ARHGAP30_uc001fxk.2_Silent_p.C94C|ARHGAP30_uc001fxm.2_Intron|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	94	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AATAGGCCTTGCACAGGGAGG	0.577													A	161026241	G	A	161026241	2	1	195	1	0	0	0	0	0	0	0	1	879	1311	46	2		2	ARHGAP30	1	161026241	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	860943	161026241	88224380	113	107217											
FCRLB	127943	broad.mit.edu	37	chr1	161697329	161697329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcaaaggccttctgagCcgggtggtcctggaattaaa	12	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:161697329C>T	uc001gbh.2	+	8	1392	c.1158C>T	c.(1156-1158)AGC>AGT	p.S386S	FCRLB_uc009wus.2_Silent_p.S386S|FCRLB_uc001gbj.2_3'UTR|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_3'UTR|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.S386S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	386						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GCCTTCTGAGCCGGGTGGTCC	0.642													T	161697329	C	T	161697329	2	4	195	1	0	0	0	0	0	0	0	1	5801	738	26	2		2	FCRLB	1	161697329	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	671088	161697329	87553292	114	107218											
PBX1	5087	broad.mit.edu	37	chr1	164768972	164768972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacccacgtgatgaatctcCtgcgagagcaaagccggacc	10	15	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:164768972C>A	uc001gct.2	+	4	805	c.547C>A	c.(547-549)CTG>ATG	p.L183M	PBX1_uc010pku.1_Missense_Mutation_p.L183M|PBX1_uc010pkv.1_Missense_Mutation_p.L100M|PBX1_uc001gcs.2_Missense_Mutation_p.L183M|PBX1_uc010pkw.1_Missense_Mutation_p.L73M	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	183					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)	soft_tissue(3)|lung(1)|skin(1)	5						GATGAATCTCCTGCGAGAGCA	0.547			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								A	164768972	C	A	164768972	3	1	195	1	0	0	0	0	1	0	0	0	11492	680	24	5	561	5	PBX1	1	164768972	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3071643	164768972	84481649	115	107219											
LMX1A	4009	broad.mit.edu	37	chr1	165182974	165182974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtttggggcgcttatgGtccttgccttcctcagcagt	13	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:165182974G>A	uc001gcy.1	-	4	794	c.573C>T	c.(571-573)GAC>GAT	p.D191D	LMX1A_uc001gcz.1_Silent_p.D191D|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	191						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					GGCGCTTATGGTCCTTGCCTT	0.488													A	165182974	G	A	165182974	2	1	195	1	0	0	0	0	0	0	0	1	8861	1252	44	4		4	LMX1A	1	165182974	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	414002	165182974	84067647	116	107220											
GPA33	10223	broad.mit.edu	37	chr1	167024259	167024259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcgtccttccctcggcAgcagcagcagtagatgatga	12	11	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:167024259A>G	uc001gea.1	-	6	1125	c.781T>C	c.(781-783)TGC>CGC	p.C261R		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	261	Cytoplasmic (Potential).|Poly-Cys.					integral to plasma membrane	receptor activity				0						TTCCCTCGGCAGCAGCAGCAG	0.567													G	167024259	A	G	167024259	3	3	195	1	0	0	0	0	1	0	0	0	6586	188	7	3	186	3	GPA33	1	167024259	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1841285	167024259	82226362	117	107221											
ADCY10	55811	broad.mit.edu	37	chr1	167792355	167792355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacctggatcaattgCgggtatctatggaaaagaaa	10	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:167792355C>T	uc001ger.2	-	29	4357	c.4059G>A	c.(4057-4059)CCG>CCA	p.P1353P	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Silent_p.P1261P|ADCY10_uc010plj.1_Silent_p.P1200P	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1353					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						GGATCAATTGCGGGTATCTAT	0.343													T	167792355	C	T	167792355	2	4	195	1	0	0	0	0	0	0	0	1	293	755	27	1		1	ADCY10	1	167792355	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	768096	167792355	81458266	118	107222											
GPR161	23432	broad.mit.edu	37	chr1	168054846	168054846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcacaagagttctgcTgcctcggcggcccccgaagc	12	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:168054846T>C	uc001gfc.2	-	8	1827	c.1513A>G	c.(1513-1515)AGC>GGC	p.S505G	GPR161_uc001gfb.2_Missense_Mutation_p.S373G|GPR161_uc010pll.1_Missense_Mutation_p.S415G|GPR161_uc010plm.1_Missense_Mutation_p.S391G|GPR161_uc009wvo.2_Missense_Mutation_p.S522G|GPR161_uc001gfd.2_Missense_Mutation_p.S505G|GPR161_uc010pln.1_Missense_Mutation_p.S525G	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	505	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					AGAGTTCTGCTGCCTCGGCGG	0.612													C	168054846	T	C	168054846	3	2	195	1	0	0	0	0	1	0	0	0	6665	1580	55	3	80	3	GPR161	1	168054846	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	262491	168054846	81195775	119	107223											
SCYL3	57147	broad.mit.edu	37	chr1	169823669	169823669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtgatgacacttttggCggctcgatttggtctgcgtc	12	9	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:169823669C>T	uc001ggs.2	-	13	2109	c.1911G>A	c.(1909-1911)CCG>CCA	p.P637P	SCYL3_uc010plw.1_Silent_p.P229P|SCYL3_uc001ggt.2_Silent_p.P583P|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	637	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACACTTTTGGCGGCTCGATTT	0.438													T	169823669	C	T	169823669	2	4	195	1	0	0	0	0	0	0	0	1	13949	755	27	1		1	SCYL3	1	169823669	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1768823	169823669	79426952	120	107224											
TNR	7143	broad.mit.edu	37	chr1	175372559	175372559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttgggcaccggagttcGgaacagtcatccccgctgta	12	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:175372559G>A	uc001gkp.1	-	2	774	c.693C>T	c.(691-693)TCC>TCT	p.S231S	TNR_uc009wwu.1_Silent_p.S231S|TNR_uc010pmz.1_Silent_p.S231S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	231	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACCGGAGTTCGGAACAGTCAT	0.637													A	175372559	G	A	175372559	2	1	195	1	0	0	0	0	0	0	0	1	16335	1103	39	1		1	TNR	1	175372559	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5548890	175372559	73878062	121	107225											
PAPPA2	60676	broad.mit.edu	37	chr1	176525653	176525653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcttctccacagcaTcacctctttggagtctaccc	6	17	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:176525653T>G	uc001gkz.2	+	2	1359	c.195T>G	c.(193-195)CAT>CAG	p.H65Q	PAPPA2_uc001gky.1_Missense_Mutation_p.H65Q|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	65					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CTCCACAGCATCACCTCTTTG	0.552													G	176525653	T	G	176525653	3	3	195	1	0	0	0	0	1	0	0	0	11433	1432	50	5	197	5	PAPPA2	1	176525653	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1153094	176525653	72724968	122	107226											
PAPPA2	60676	broad.mit.edu	37	chr1	176659457	176659457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacctctgtgccgacacCgcccccactcccaagagtga	10	17	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:176659457C>T	uc001gkz.2	+	5	3486	c.2322C>T	c.(2320-2322)ACC>ACT	p.T774T	PAPPA2_uc001gky.1_Silent_p.T774T|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	774					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GTGCCGACACCGCCCCCACTC	0.562													T	176659457	C	T	176659457	2	4	195	1	0	0	0	0	0	0	0	1	11433	639	23	1		1	PAPPA2	1	176659457	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	133804	176659457	72591164	123	107227											
PAPPA2	60676	broad.mit.edu	37	chr1	176762724	176762725	+	Frame_Shift_Ins	INS	-	-	C													gttccccattgtgtgtaatcINSccccccagtgaccccgtgat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:176762723_176762724T>TC	uc001gkz.3	+	19	6212_6213	c.5048_5049T>TC	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				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						TTGTGTGTAATCCCCCCCAGTG	0.47													C	176762725	-	C	176762724	7	5	195	1	0	1	1	0	0	0	0	0	11433	845	30	0	5176	0	PAPPA2	1	176762724	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	103267	176762724	72487897	124	107228											
ASTN1	460	broad.mit.edu	37	chr1	177001708	177001708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccctctgcagatggtggCgcagatcagtgatgtcatac	11	11	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:177001708C>T	uc001glc.2	-	3	961	c.749G>A	c.(748-750)CGC>CAC	p.R250H	ASTN1_uc001glb.1_Missense_Mutation_p.R250H|ASTN1_uc001gld.1_Missense_Mutation_p.R250H|ASTN1_uc009wwx.1_Missense_Mutation_p.R250H|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	250					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CAGATGGTGGCGCAGATCAGT	0.617													T	177001708	C	T	177001708	3	4	195	1	0	0	0	0	1	0	0	0	1064	768	27	1	3223	1	ASTN1	1	177001708	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	238984	177001708	72248913	125	107229											
LHX4	89884	broad.mit.edu	37	chr1	180243505	180243505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccatatcgtccctgccaTcccacgctcctttgctcaat	4	19	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:180243505T>C	uc001goe.1	+	6	1187	c.964T>C	c.(964-966)TCC>CCC	p.S322P	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	322						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GTCCCTGCCATCCCACGCTCC	0.562													C	180243505	T	C	180243505	3	2	195	1	0	0	0	0	1	0	0	0	8773	1435	50	3	986	3	LHX4	1	180243505	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3241797	180243505	69007116	126	107230											
MR1	3140	broad.mit.edu	37	chr1	181018395	181018395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgctgaggggctggcAgcagatgttcaaggtggaac	16	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:181018395A>G	uc001goq.1	+	2	280	c.275A>G	c.(274-276)CAG>CGG	p.Q92R	MR1_uc001gop.2_Missense_Mutation_p.Q92R|MR1_uc001gor.1_Missense_Mutation_p.Q92R|MR1_uc001gos.1_Missense_Mutation_p.Q92R|MR1_uc010pns.1_Missense_Mutation_p.Q92R	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	92	Extracellular (Potential).|Ligand-binding.|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						AGGGGCTGGCAGCAGATGTTC	0.607													G	181018395	A	G	181018395	3	3	195	1	0	0	0	0	1	0	0	0	9752	188	7	3	281	3	MR1	1	181018395	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	774890	181018395	68232226	127	107231											
RNASEL	6041	broad.mit.edu	37	chr1	182555837	182555837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccaggtcaacatcttcGttttgaacagctttaatcag	8	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:182555837G>A	uc001gpj.1	-	1	272	c.105C>T	c.(103-105)AAC>AAT	p.N35N	RNASEL_uc009wxz.1_Silent_p.N35N|RNASEL_uc001gpk.2_Silent_p.N35N|RNASEL_uc009wya.1_Silent_p.N35N	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	35	ANK 1.				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			ovary(4)|stomach(1)	5						CAACATCTTCGTTTTGAACAG	0.512									Hereditary_Prostate_Cancer				A	182555837	G	A	182555837	2	1	195	1	0	0	0	0	0	0	0	1	13416	1136	40	1		1	RNASEL	1	182555837	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1537442	182555837	66694784	128	107232											
GLT25D2	23127	broad.mit.edu	37	chr1	183920195	183920195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgttcatacagtgtgCgcagcatccggtcccgcctg	10	15	2	0	rs150214481		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:183920195C>T	uc001gqr.2	-	8	1454	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	GLT25D2_uc010poj.1_Missense_Mutation_p.R361H|GLT25D2_uc001gqq.2_Missense_Mutation_p.R98H|GLT25D2_uc001gqs.2_Missense_Mutation_p.R241H	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	361					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						ATACAGTGTGCGCAGCATCCG	0.448													T	183920195	C	T	183920195	3	4	195	1	0	0	0	0	1	0	0	0	6467	768	27	1	818	1	GLT25D2	1	183920195	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1364358	183920195	65330426	129	107233											
HMCN1	83872	broad.mit.edu	37	chr1	185962394	185962394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtatctttgtgttgccaCaaatattgctgggaatgtga	11	5	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:185962394C>T	uc001grq.1	+	23	3687	c.3458C>T	c.(3457-3459)ACA>ATA	p.T1153I	HMCN1_uc001grr.1_Missense_Mutation_p.T494I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1153	Ig-like C2-type 8.			T -> I (in Ref. 2; BAB71216).	response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTGTTGCCACAAATATTGCT	0.413													T	185962394	C	T	185962394	3	4	195	1	0	0	0	0	1	0	0	0	7220	478	17	4	3548	4	HMCN1	1	185962394	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2042199	185962394	63288227	130	107234											
HMCN1	83872	broad.mit.edu	37	chr1	186083133	186083133	+	Frame_Shift_Del	DEL	C	C	-													cctccaaacataaaggggggCccccagagccttgtaattct					rs140251121		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:186083132_186083132GC>G	uc001grq.1	+	72	11382	c.11153_11153GC>G	c.(11152-11154)ggcfs	p.G3718fs	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3718	Ig-like C2-type 36.				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						ATAAAGGGGGGCCCCCAGAGC	0.408													-	186083133	C	-	186083133	7	5	195	1	0	1	0	1	0	0	0	0	7220	726	26	0	11444	0	HMCN1	1	186083133	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	120739	186083133	63167488	131	107235											
HMCN1	83872	broad.mit.edu	37	chr1	186114613	186114613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagatgcggcggtaccGcacatgtgataaccctcctc	12	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:186114613G>A	uc001grq.1	+	92	14574	c.14345G>A	c.(14344-14346)CGC>CAC	p.R4782H	HMCN1_uc001grs.1_Missense_Mutation_p.R351H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4782	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CGGCGGTACCGCACATGTGAT	0.572													A	186114613	G	A	186114613	3	1	195	1	0	0	0	0	1	0	0	0	7220	1087	38	1	14711	1	HMCN1	1	186114613	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	31480	186114613	63136008	132	107236											
FAM5C	339479	broad.mit.edu	37	chr1	190067293	190067293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaaagatctagacgaCgctgaccaggtggggagagt	15	6	1	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:190067293C>T	uc001gse.1	-	8	2388	c.2156G>A	c.(2155-2157)CGT>CAT	p.R719H	FAM5C_uc010pot.1_Missense_Mutation_p.R617H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	719						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ATCTAGACGACGCTGACCAGG	0.483													T	190067293	C	T	190067293	3	4	195	1	0	0	0	0	1	0	0	0	5594	536	19	1	148	1	FAM5C	1	190067293	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3952680	190067293	59183328	133	107237											
CDC73	79577	broad.mit.edu	37	chr1	193205392	193205392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctacttgtagggaccgCgttgtagccgtttttgtgca	11	8	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:193205392C>T	uc001gtb.2	+	15	1566	c.1323C>T	c.(1321-1323)CGC>CGT	p.R441R		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	441					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						GTAGGGACCGCGTTGTAGCCG	0.463									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				T	193205392	C	T	193205392	2	4	195	1	0	0	0	0	0	0	0	1	3085	755	27	1		1	CDC73	1	193205392	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3138099	193205392	56045229	134	107238											
CFH	3075	broad.mit.edu	37	chr1	196706662	196706662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaaccattaattcatccaGgtcttcacaagaaagttatg	7	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:196706662G>T	uc001gtj.3	+	17	2894	c.2654G>T	c.(2653-2655)AGG>ATG	p.R885M		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	885	Sushi 15.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AATTCATCCAGGTCTTCACAA	0.343													T	196706662	G	T	196706662	3	4	195	1	0	0	0	0	1	0	0	0	3283	1000	35	5	2738	5	CFH	1	196706662	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3501270	196706662	52543959	135	107239											
ZNF281	23528	broad.mit.edu	37	chr1	200377909	200377909	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctctctactatgaatttTctcatgtctctgtagtaggt	6	9	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:200377909T>G	uc001gve.2	-	2	1032	c.925A>C	c.(925-927)AAA>CAA	p.K309Q	ZNF281_uc001gvf.1_Missense_Mutation_p.K309Q|ZNF281_uc001gvg.1_Missense_Mutation_p.K273Q	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	309	C2H2-type 2.				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			ovary(1)|breast(1)	2						CTATGAATTTTCTCATGTCTC	0.428													G	200377909	T	G	200377909	3	3	195	1	0	0	0	0	1	0	0	0	17815	1792	62	5	1766	5	ZNF281	1	200377909	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3671247	200377909	48872712	136	107240											
DDX59	83479	broad.mit.edu	37	chr1	200635401	200635401	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtggagactctggctcAgaatcagccttctgtggatt	11	9	5	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:200635401A>G	uc009wzk.2	-	2	711	c.468T>C	c.(466-468)TCT>TCC	p.S156S	DDX59_uc010ppl.1_Silent_p.S156S	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	156						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACTCTGGCTCAGAATCAGCCT	0.408													G	200635401	A	G	200635401	2	3	195	1	0	0	0	0	0	0	0	1	4376	175	7	3		3	DDX59	1	200635401	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	257492	200635401	48615220	137	107241											
LAD1	3898	broad.mit.edu	37	chr1	201356058	201356058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttcccgactcagtctcCggcgaggtgggatttccagt	13	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:201356058C>T	uc001gwm.2	-	3	666	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	LAD1_uc009wzu.1_Missense_Mutation_p.R166Q	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	144						basement membrane	structural molecule activity				0						ACTCAGTCTCCGGCGAGGTGG	0.617													T	201356058	C	T	201356058	3	4	195	1	0	0	0	0	1	0	0	0	8599	652	23	1	1154	1	LAD1	1	201356058	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	720657	201356058	47894563	138	107242											
PTPN7	5778	broad.mit.edu	37	chr1	202128473	202128473	+	Frame_Shift_Del	DEL	C	C	-													cggaggctgggtcatggctgCccccaaagacaaggtcaacg					rs112539145		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:202128472_202128472GC>G	uc001gxn.2	-	1	1155	c.59_59GC>C	c.(58-60)gcafs	p.A20fs	PTPN7_uc001gxl.2_Frame_Shift_Del_p.A59fs|PTPN7_uc001gxm.2_Frame_Shift_Del_p.A125fs|PTPN7_uc010ppx.2_Frame_Shift_Del_p.A94fs|PTPN7_uc010ppw.2_5'UTR|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	20						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						GGTCATGGCTGCCCCCAAAGA	0.642													-	202128473	C	-	202128473	7	5	195	1	0	1	0	1	0	0	0	0	12793	739	26	0	1060	0	PTPN7	1	202128473	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	772415	202128473	47122148	139	107243											
KDM5B	10765	broad.mit.edu	37	chr1	202722105	202722105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggagatccggctgggaCacaaagagttctggagctag	16	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:202722105C>T	uc001gyf.2	-	12	1745	c.1629G>A	c.(1627-1629)GTG>GTA	p.V543V	KDM5B_uc009xag.2_Silent_p.V579V|KDM5B_uc001gyg.1_Silent_p.V385V	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	543	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			ovary(2)|breast(2)|urinary_tract(1)	5						CCGGCTGGGACACAAAGAGTT	0.493													T	202722105	C	T	202722105	2	4	195	1	0	0	0	0	0	0	0	1	8134	465	17	4		4	KDM5B	1	202722105	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	593632	202722105	46528516	140	107244											
MDM4	4194	broad.mit.edu	37	chr1	204518448	204518448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccatttcggctcctgtcGttagacctaaagatgcgtat	9	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:204518448G>A	uc001hba.2	+	11	1273	c.1111G>A	c.(1111-1113)GTT>ATT	p.V371I	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.V244I|MDM4_uc001hay.1_Missense_Mutation_p.V321I|MDM4_uc001hbb.2_Missense_Mutation_p.V244I|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	371					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCTCCTGTCGTTAGACCTAA	0.418			A		GBM|bladder|retinoblastoma								A	204518448	G	A	204518448	3	1	195	1	0	0	0	0	1	0	0	0	9414	1145	40	1	1149	1	MDM4	1	204518448	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1796343	204518448	44732173	141	107245											
CNTN2	6900	broad.mit.edu	37	chr1	205031109	205031109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcgctggctgcggaacGgggagcctctggcctcccag	16	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:205031109G>A	uc001hbr.2	+	9	1359	c.1090G>A	c.(1090-1092)GGG>AGG	p.G364R	CNTN2_uc001hbq.1_Missense_Mutation_p.G255R|CNTN2_uc009xbi.2_Missense_Mutation_p.G255R|CNTN2_uc001hbs.2_Missense_Mutation_p.G152R	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	364	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	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)			GCTGCGGAACGGGGAGCCTCT	0.642											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	205031109	G	A	205031109	3	1	195	1	0	0	0	0	1	0	0	0	3641	1116	39	1	1120	1	CNTN2	1	205031109	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	512661	205031109	44219512	142	107246											
TMEM81	388730	broad.mit.edu	37	chr1	205053001	205053001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagtcatactcctgagCatatttaaacttcacaaagt	5	11	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:205053001C>T	uc001hbt.2	-	1	588	c.448G>A	c.(448-450)GCT>ACT	p.A150T		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	150	Ig-like.|Extracellular (Potential).					integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACTCCTGAGCATATTTAAAC	0.478													T	205053001	C	T	205053001	3	4	195	1	0	0	0	0	1	0	0	0	16202	710	25	2	323	2	TMEM81	1	205053001	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	21892	205053001	44197620	143	107247											
PIGR	5284	broad.mit.edu	37	chr1	207111045	207111045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcagttgatggtcaccGttctgcccaggtccactgtg	13	11	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:207111045G>A	uc001hez.2	-	4	624	c.440C>T	c.(439-441)ACG>ATG	p.T147M	PIGR_uc009xbz.2_Missense_Mutation_p.T147M	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	147	Ig-like V-type 2.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GATGGTCACCGTTCTGCCCAG	0.522													A	207111045	G	A	207111045	3	1	195	1	0	0	0	0	1	0	0	0	11897	1145	40	1	1886	1	PIGR	1	207111045	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2058044	207111045	42139576	144	107248											
CR1	1378	broad.mit.edu	37	chr1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagcagtgttccagtgtgtGaacgtgagtagaaagaacta	12	5	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:207787831G>T	uc001hfy.2	+	32	5448	c.5308G>T	c.(5308-5310)GAA>TAA	p.E1770*	CR1_uc001hfx.2_Nonsense_Mutation_p.E2220*	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1770	Extracellular (Potential).|Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TCCAGTGTGTGAACGTGAGTA	0.408													T	207787831	G	T	207787831	4	4	195	1	0	0	0	0	0	1	0	0	3840	1291	45	5	6816	5	CR1	1	207787831	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	676786	207787831	41462790	145	107249											
LAMB3	3914	broad.mit.edu	37	chr1	209790820	209790820	+	Frame_Shift_Del	DEL	C	C	-													ctgggcctggactgcctctgCcccctgctgccgggcttggt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:209790819_209790819GC>G	uc001hhg.3	-	19	3554	c.3164_3164GC>C	c.(3163-3165)gcafs	p.A1055fs	LAMB3_uc009xco.3_Frame_Shift_Del_p.A1055fs|LAMB3_uc001hhh.3_Frame_Shift_Del_p.A1055fs	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1055	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.G1054R(1)		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)		GACTGCCTCTGCCCCCTGCTG	0.617													-	209790820	C	-	209790820	7	5	195	1	0	1	0	1	0	0	0	0	8612	739	26	0	367	0	LAMB3	1	209790820	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	2002989	209790820	39459801	146	107250											
LAMB3	3914	broad.mit.edu	37	chr1	209803987	209803987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgggcgtcctggccctCcgccggtctccagggccggt	14	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:209803987C>T	uc001hhg.2	-	8	1306	c.916G>A	c.(916-918)GAG>AAG	p.E306K	LAMB3_uc009xco.2_Missense_Mutation_p.E306K|LAMB3_uc001hhh.2_Missense_Mutation_p.E306K|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.E242K	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	306	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCCTGGCCCTCCGCCGGTCTC	0.612													T	209803987	C	T	209803987	3	4	195	1	0	0	0	0	1	0	0	0	8612	864	30	4	2662	4	LAMB3	1	209803987	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	13167	209803987	39446634	147	107251											
HHAT	55733	broad.mit.edu	37	chr1	210637863	210637863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggaggactggcgttaGcccaggtgctctttttctac	11	10	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:210637863G>A	uc009xcx.2	+	8	1037	c.871G>A	c.(871-873)GCC>ACC	p.A291T	HHAT_uc010psq.1_Missense_Mutation_p.A154T|HHAT_uc001hhz.3_Missense_Mutation_p.A291T|HHAT_uc010psr.1_Missense_Mutation_p.A292T|HHAT_uc010pss.1_Missense_Mutation_p.A246T|HHAT_uc009xcy.2_Missense_Mutation_p.A226T|HHAT_uc010pst.1_Missense_Mutation_p.A228T|HHAT_uc010psu.1_Missense_Mutation_p.A226T|HHAT_uc001hia.3_5'UTR	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	291	Helical; (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACTGGCGTTAGCCCAGGTGCT	0.567													A	210637863	G	A	210637863	3	1	195	1	0	0	0	0	1	0	0	0	7089	971	34	2	995	2	HHAT	1	210637863	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	833876	210637863	38612758	148	107252											
RCOR3	55758	broad.mit.edu	37	chr1	211444604	211444604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtacacagataaagacaatgGagggatgcttgtatggtctc	12	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:211444604G>T	uc001hig.2	+	2	249	c.80G>T	c.(79-81)GGA>GTA	p.G27V	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G85V|RCOR3_uc010psw.1_Missense_Mutation_p.G85V|RCOR3_uc001hif.2_Missense_Mutation_p.G85V	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	27	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AAAGACAATGGAGGGATGCTT	0.353													T	211444604	G	T	211444604	3	4	195	1	0	0	0	0	1	0	0	0	13184	1174	41	5	264	5	RCOR3	1	211444604	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	806741	211444604	37806017	149	107253											
RPS6KC1	26750	broad.mit.edu	37	chr1	213445950	213445950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccattttttaccccTgtggattgggcagaactgat	8	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:213445950T>C	uc010ptr.1	+	15	3333	c.3174T>C	c.(3172-3174)CCT>CCC	p.P1058P	RPS6KC1_uc001hkd.2_Silent_p.P1046P|RPS6KC1_uc010pts.1_Silent_p.P846P|RPS6KC1_uc010ptt.1_Silent_p.P846P|RPS6KC1_uc010ptu.1_Silent_p.P877P|RPS6KC1_uc010ptv.1_Silent_p.P593P|RPS6KC1_uc001hke.2_Silent_p.P877P	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	1058					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTTTTACCCCTGTGGATTGGG	0.458													C	213445950	T	C	213445950	2	2	195	1	0	0	0	0	0	0	0	1	13658	1567	55	3		3	RPS6KC1	1	213445950	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2001346	213445950	35804671	150	107254											
PROX1	5629	broad.mit.edu	37	chr1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-													tgaaaaaagcaaagctcatgTttttttatacccgttatccc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:214178555_214178555GT>G	uc001hkh.3	+	2	2045	c.1773_1773GT>G	c.(1771-1773)atgfs	p.M591fs		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	591					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 S phase of mitotic cell cycle|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 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)		CAAAGCTCATGTTTTTTTATA	0.383													-	214178556	T	-	214178556	7	5	195	1	0	1	0	1	0	0	0	0	12560	1725	60	0	1780	0	PROX1	1	214178556	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	732606	214178556	35072065	151	107255											
PTPN14	5784	broad.mit.edu	37	chr1	214638039	214638039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgctttccaccgacagCgtgcactcgataacattgct	8	14	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:214638039C>T	uc001hkk.1	-	2	379	c.108G>A	c.(106-108)ACG>ACA	p.T36T	PTPN14_uc010pty.1_Intron	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	36	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCACCGACAGCGTGCACTCGA	0.597													T	214638039	C	T	214638039	2	4	195	1	0	0	0	0	0	0	0	1	12783	755	27	1		1	PTPN14	1	214638039	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	459483	214638039	34612582	152	107256											
ESRRG	2104	broad.mit.edu	37	chr1	216850489	216850489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagtggtacccagaagcgAtgtcaccacacactaaacac	7	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:216850489A>G	uc001hkw.1	-	2	567	c.401T>C	c.(400-402)ATC>ACC	p.I134T	ESRRG_uc001hky.1_Missense_Mutation_p.I111T|ESRRG_uc009xdp.1_Missense_Mutation_p.I111T|ESRRG_uc001hkz.1_Missense_Mutation_p.I111T|ESRRG_uc010puc.1_Missense_Mutation_p.I111T|ESRRG_uc001hla.1_Missense_Mutation_p.I111T|ESRRG_uc001hlb.1_Missense_Mutation_p.I111T|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.I111T|ESRRG_uc001hld.1_Missense_Mutation_p.I111T|ESRRG_uc001hkx.1_Missense_Mutation_p.I139T|ESRRG_uc009xdo.1_Missense_Mutation_p.I111T|ESRRG_uc001hle.1_Missense_Mutation_p.I111T	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	134	Nuclear receptor.|NR C4-type.				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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCCAGAAGCGATGTCACCACA	0.488													G	216850489	A	G	216850489	3	3	195	1	0	0	0	0	1	0	0	0	5262	333	12	3	999	3	ESRRG	1	216850489	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2212450	216850489	32400132	153	107257											
DISP1	84976	broad.mit.edu	37	chr1	223176686	223176686	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaattacgttttgatggtCacatggcttccagcagttgt	11	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:223176686C>T	uc001hnu.1	+	8	2094	c.1947C>T	c.(1945-1947)GTC>GTT	p.V649V		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	649	Helical; (Potential).|SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTTTGATGGTCACATGGCTTC	0.413													T	223176686	C	T	223176686	2	4	195	1	0	0	0	0	0	0	0	1	4539	813	29	4		4	DISP1	1	223176686	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6326197	223176686	26073935	154	107258											
DISP1	84976	broad.mit.edu	37	chr1	223178672	223178672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccagatccaaaacggCgtggcacctctgaaggccac	10	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:223178672C>T	uc001hnu.1	+	8	4080	c.3933C>T	c.(3931-3933)GGC>GGT	p.G1311G		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1311					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TCCAAAACGGCGTGGCACCTC	0.577													T	223178672	C	T	223178672	2	4	195	1	0	0	0	0	0	0	0	1	4539	755	27	1		1	DISP1	1	223178672	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1986	223178672	26071949	155	107259											
SUSD4	55061	broad.mit.edu	37	chr1	223465929	223465929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagaaaacccctccGctgggggtcctgaagccatt	9	14	1	2	rs148470082		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:223465929G>A	uc001hnx.2	-	2	847	c.213C>T	c.(211-213)AGC>AGT	p.S71S	SUSD4_uc001hny.3_Silent_p.S71S|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.S71S|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	71	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		AAACCCCTCCGCTGGGGGTCC	0.498													A	223465929	G	A	223465929	2	1	195	1	0	0	0	0	0	0	0	1	15407	1078	38	1		1	SUSD4	1	223465929	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	287257	223465929	25784692	156	107260											
CABC1	56997	broad.mit.edu	37	chr1	227171262	227171262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccccacagtaccctggcGtggcccagagcatcaacagt	9	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:227171262G>A	uc001hqm.1	+	14	4509	c.1090G>A	c.(1090-1092)GTG>ATG	p.V364M	CABC1_uc001hqn.1_Missense_Mutation_p.V364M|CABC1_uc009xeq.1_Missense_Mutation_p.V312M|CABC1_uc010pvq.1_Missense_Mutation_p.V85M|CABC1_uc010pvr.1_Missense_Mutation_p.V38M|CABC1_uc001hqo.1_Missense_Mutation_p.V85M|CABC1_uc009xer.1_Translation_Start_Site	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	364	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				GTACCCTGGCGTGGCCCAGAG	0.612													A	227171262	G	A	227171262	3	1	195	1	0	0	0	0	1	0	0	0	2527	1145	40	1	1120	1	CABC1	1	227171262	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3705333	227171262	22079359	157	107261											
OBSCN	84033	broad.mit.edu	37	chr1	228466971	228466971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctccatcccctcagtgCggccacctaagtggctcctg	9	17	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:228466971C>T	uc009xez.1	+	27	7266	c.7222C>T	c.(7222-7224)CGG>TGG	p.R2408W	OBSCN_uc001hsn.2_Missense_Mutation_p.R2408W|OBSCN_uc001hsp.1_Missense_Mutation_p.R107W|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2408					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCCCTCAGTGCGGCCACCTAA	0.642													T	228466971	C	T	228466971	3	4	195	1	0	0	0	0	1	0	0	0	10812	759	27	1	7324	1	OBSCN	1	228466971	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1295709	228466971	20783650	158	107262											
OBSCN	84033	broad.mit.edu	37	chr1	228495060	228495060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgcagagtcgggggcCgtggtgcaatggctcaagga	18	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:228495060C>T	uc009xez.1	+	46	12338	c.12294C>T	c.(12292-12294)GCC>GCT	p.A4098A	OBSCN_uc001hsn.2_Silent_p.A4098A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4098	Ig-like 42.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTCGGGGGCCGTGGTGCAAT	0.647													T	228495060	C	T	228495060	2	4	195	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228495060	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	28089	228495060	20755561	159	107263											
ACTA1	58	broad.mit.edu	37	chr1	229568041	229568041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacgaaggagtagccacGctcagtgaggatcttcatca	12	10	5	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:229568041G>A	uc001htm.2	-	4	697	c.592C>T	c.(592-594)CGT>TGT	p.R198C		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	198			R -> L (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				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GAGTAGCCACGCTCAGTGAGG	0.483													A	229568041	G	A	229568041	3	1	195	1	0	0	0	0	1	0	0	0	191	1087	38	1	557	1	ACTA1	1	229568041	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1072981	229568041	19682580	160	107264											
URB2	9816	broad.mit.edu	37	chr1	229772467	229772467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatccaaagtttgaggtgcGatgctgcctttattattggt	10	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:229772467G>A	uc001hts.1	+	4	2243	c.2107G>A	c.(2107-2109)GAT>AAT	p.D703N	URB2_uc009xfd.1_Missense_Mutation_p.D703N	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	703						nucleolus				central_nervous_system(2)|ovary(1)	3						TTTGAGGTGCGATGCTGCCTT	0.463													A	229772467	G	A	229772467	3	1	195	1	0	0	0	0	1	0	0	0	17022	1058	37	1	2117	1	URB2	1	229772467	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	204426	229772467	19478154	161	107265											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649957	232649957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccctaaaggggactcacAgttgcctgtctggcccgtag	12	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:232649957A>G	uc001hvg.2	-	1	1287	c.1129T>C	c.(1129-1131)TGT>CGT	p.C377R		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	377					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGGGACTCACAGTTGCCTGTC	0.537													G	232649957	A	G	232649957	3	3	195	1	0	0	0	0	1	0	0	0	14330	188	7	3	4123	3	SIPA1L2	1	232649957	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2877490	232649957	16600664	162	107266											
RYR2	6262	broad.mit.edu	37	chr1	237777646	237777646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagagcatcaccctgttcCctgatgagaacaaaaaacac	7	12	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:237777646C>T	uc001hyl.1	+	37	5338	c.5218C>T	c.(5218-5220)CCT>TCT	p.P1740S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1740	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CACCCTGTTCCCTGATGAGAA	0.527													T	237777646	C	T	237777646	3	4	195	1	0	0	0	0	1	0	0	0	13769	623	22	4	5364	4	RYR2	1	237777646	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5127689	237777646	11472975	163	107267											
ZNF238	10472	broad.mit.edu	37	chr1	244218598	244218598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaactccttgtcggtcAaaagcgaagcactgagcttg	12	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:244218598A>G	uc001iae.2	+	1	2017	c.1495A>G	c.(1495-1497)AAA>GAA	p.K499E	ZNF238_uc001iad.3_Missense_Mutation_p.K508E|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	499					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CTTGTCGGTCAAAAGCGAAGC	0.453													G	244218598	A	G	244218598	3	3	195	1	0	0	0	0	1	0	0	0	17787	131	5	3	1528	3	ZNF238	1	244218598	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	6440952	244218598	5032023	164	107268											
AHCTF1	25909	broad.mit.edu	37	chr1	247062817	247062817	+	Splice_Site	DEL	A	A	-													ttaacaaacaagtggcatctAaaaaaaagatttaaaaaata							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:247062816_247062816TA>T	uc001ibv.2	-	11	1557	c.1460_splice	c.e11-1	p.D487_splice	AHCTF1_uc009xgs.1_Splice_Site	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	478	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|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)			AAGTGGCATCTAAAAAAAAGA	0.308													-	247062817	A	-	247062817	8	5	195	1	0	1	0	1	0	0	1	0	408	377	13	0		0	AHCTF1	1	247062817	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	2844219	247062817	2187804	165	107269											
OR2B11	127623	broad.mit.edu	37	chr1	247614857	247614857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgagctgctgacagagaGcacggtgcatgagaacggca	14	11	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:247614857G>A	uc010pyx.1	-	1	428	c.428C>T	c.(427-429)GCT>GTT	p.A143V		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	143	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	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)			CTGACAGAGAGCACGGTGCAT	0.642													A	247614857	G	A	247614857	3	1	195	1	0	0	0	0	1	0	0	0	10988	971	34	2	528	2	OR2B11	1	247614857	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	552040	247614857	1635764	166	107270											
OR2W5	441932	broad.mit.edu	37	chr1	247654874	247654874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggtgactgtggccTggtgctgtggcttcctaaac	14	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:247654874T>C	uc001icz.1	+	1	445	c.445T>C	c.(445-447)TGG>CGG	p.W149R		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	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)			GACTGTGGCCTGGTGCTGTGG	0.597													C	247654874	T	C	247654874	3	2	195	1	0	0	0	0	1	0	0	0	11034	1580	55	3	447	3	OR2W5	1	247654874	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	40017	247654874	1595747	167	107271											
OR14I1	401994	broad.mit.edu	37	chr1	248844882	248844882	+	Frame_Shift_Del	DEL	G	G	-													gagcatgatgacaatgagctGgggggagcaggtggagaagg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr1:248844881_248844881TG>T	uc001ieu.1	-	0	725	c.725_725CA>A	c.(724-726)cagfs	p.Q242fs		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACAATGAGCTGGGGGGAGCA	0.463													-	248844882	G	-	248844882	7	5	195	1	0	1	0	1	0	0	0	0	10947	1357	47	0	215	0	OR14I1	1	248844882	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	1190008	248844882	405739	168	107272											
TSSC1	7260	broad.mit.edu	37	chr2	3261132	3261132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccagggtctgtgcagtGctggatgaatcatcagggga	15	8	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:3261132G>A	uc002qxj.2	-	4	547	c.354C>T	c.(352-354)AGC>AGT	p.S118S	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	118							protein binding				0	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)		TCTGTGCAGTGCTGGATGAAT	0.547													A	3261132	G	A	3261132	2	1	195	1	0	0	0	0	0	0	0	1	16663	1310	46	2		2	TSSC1	2	3261132	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08		3261132	239938241	169	107273											
RPS7	6201	broad.mit.edu	37	chr2	3625326	3625326	+	Frame_Shift_Del	DEL	A	A	-													attctgcctaagccaactcgAaaaagccgtacaaaaaataa					rs61730447		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:3625325_3625325GA>G	uc002qxw.3	+	4	423	c.317_317GA>G	c.(316-318)cgafs	p.R106fs	RPS7_uc002qxy.3_5'Flank	NM_001011	NP_001002	P62081	RS7_HUMAN	Homo sapiens ribosomal protein S7 (RPS7), mRNA.	106	Arg/Lys-rich (basic).				endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		AAGCCAACTCGAAAAAGCCGT	0.343													-	3625326	A	-	3625326	7	5	195	1	0	1	0	1	0	0	0	0	13660	233	9	0	332	0	RPS7	2	3625326	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	364194	3625326	239574047	170	107274											
ASAP2	8853	broad.mit.edu	37	chr2	9491025	9491025	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctttgacctcatttcacGtaaggctccctctgagatgc	9	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:9491025G>A	uc002qzh.2	+	12	1451	c.1111_splice	c.e12+1	p.H371_splice	ASAP2_uc002qzi.2_Splice_Site_p.H371_splice	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH						regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CTCATTTCACGTAAGGCTCCC	0.507													A	9491025	G	A	9491025	5	1	195	1	0	0	0	0	0	0	1	0	1011	1159	40	1	1158	1	ASAP2	2	9491025	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5865699	9491025	233708348	171	107275											
TAF1B	9014	broad.mit.edu	37	chr2	10045054	10045054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacatttttagatttgcctCgttttccagacataactgaa	6	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:10045054C>T	uc002qzz.2	+	9	974	c.874C>T	c.(874-876)CGT>TGT	p.R292C	TAF1B_uc010exc.2_Missense_Mutation_p.R292C|TAF1B_uc002qzy.3_Missense_Mutation_p.R292C|TAF1B_uc010yja.1_Missense_Mutation_p.R37C|TAF1B_uc010exd.2_Missense_Mutation_p.R37C	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	292					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			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGATTTGCCTCGTTTTCCAGA	0.378													T	10045054	C	T	10045054	3	4	195	1	0	0	0	0	1	0	0	0	15517	884	31	1	908	1	TAF1B	2	10045054	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	554029	10045054	233154319	172	107276											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696566	17696566	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtgacttttgcccatAttaggacctgctatagtatc	8	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:17696566A>G	uc002rcl.1	-	1	3141	c.3117T>C	c.(3115-3117)AAT>AAC	p.N1039N	RAD51AP2_uc010exn.1_Silent_p.N1030N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1039										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTGCCCATATTAGGACCTG	0.368													G	17696566	A	G	17696566	2	3	195	1	0	0	0	0	0	0	0	1	12987	446	16	3		3	RAD51AP2	2	17696566	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	7651512	17696566	225502807	173	107277											
MSGN1	343930	broad.mit.edu	37	chr2	17997959	17997959	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggaatcctattcttcTtctccctgtccagctgtggc	8	14	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:17997959T>G	uc010yjt.1	+	1	174	c.174T>G	c.(172-174)TCT>TCG	p.S58S		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	58					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTATTCTTCTTCTCCCTGTC	0.652													G	17997959	T	G	17997959	2	3	195	1	0	0	0	0	0	0	0	1	9869	1596	56	5		5	MSGN1	2	17997959	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	301393	17997959	225201414	174	107278											
NT5C1B	93034	broad.mit.edu	37	chr2	18765855	18765855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggcagcctcgtagtcGtcctcgtcctcccgctgctg	11	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:18765855G>A	uc002rcz.2	-	5	932	c.828C>T	c.(826-828)GAC>GAT	p.D276D	NT5C1B_uc002rcy.2_Silent_p.D276D|NT5C1B_uc010exr.2_Silent_p.D218D|NT5C1B_uc010yju.1_Silent_p.D216D|NT5C1B_uc002rda.2_Silent_p.D216D|NT5C1B_uc010yjv.1_Silent_p.D293D|NT5C1B_uc010yjw.1_Silent_p.D259D|NT5C1B_uc010exs.2_Silent_p.D278D|NT5C1B_uc002rdb.1_Silent_p.D68D	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	276					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CCTCGTAGTCGTCCTCGTCCT	0.682													A	18765855	G	A	18765855	2	1	195	1	0	0	0	0	0	0	0	1	10686	1136	40	1		1	NT5C1B	2	18765855	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	767896	18765855	224433518	175	107279											
NCOA1	8648	broad.mit.edu	37	chr2	24929854	24929854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggcccaggatgccaaaCaattcctttcctcctaatat	5	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:24929854C>T	uc002rfk.2	+	11	1773	c.1515C>T	c.(1513-1515)AAC>AAT	p.N505N	NCOA1_uc010eye.2_Silent_p.N505N|NCOA1_uc002rfi.2_Silent_p.N354N|NCOA1_uc002rfj.2_Silent_p.N505N|NCOA1_uc002rfl.2_Silent_p.N505N	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	505	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATGCCAAACAATTCCTTTC	0.418			T	PAX3	alveolar rhadomyosarcoma								T	24929854	C	T	24929854	2	4	195	1	0	0	0	0	0	0	0	1	10228	477	17	4		4	NCOA1	2	24929854	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6163999	24929854	218269519	176	107280											
NCOA1	8648	broad.mit.edu	37	chr2	24974860	24974860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttacaggaatggttcCccaaggtgaggccaactttg	10	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:24974860C>T	uc002rfk.2	+	18	3974	c.3716C>T	c.(3715-3717)CCC>CTC	p.P1239L	NCOA1_uc010eye.2_Missense_Mutation_p.P1239L|NCOA1_uc002rfi.2_Missense_Mutation_p.P1088L|NCOA1_uc002rfj.2_Missense_Mutation_p.P1239L|NCOA1_uc002rfl.2_Missense_Mutation_p.P1239L|NCOA1_uc010eyf.2_Missense_Mutation_p.P132L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1239									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAATGGTTCCCCAAGGTGAG	0.418			T	PAX3	alveolar rhadomyosarcoma								T	24974860	C	T	24974860	3	4	195	1	0	0	0	0	1	0	0	0	10228	623	22	4	3778	4	NCOA1	2	24974860	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	45006	24974860	218224513	177	107281											
ASXL2	55252	broad.mit.edu	37	chr2	25964955	25964955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgatgcaatcatcatgGcagaaagcgccacagccttt	11	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:25964955G>A	uc002rgs.2	-	12	4472	c.4251C>T	c.(4249-4251)TGC>TGT	p.C1417C	ASXL2_uc002rgt.1_Silent_p.C900C	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1417	PHD-type; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCATCATGGCAGAAAGCGC	0.517													A	25964955	G	A	25964955	2	1	195	1	0	0	0	0	0	0	0	1	1067	1195	42	2		2	ASXL2	2	25964955	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	990095	25964955	217234418	178	107282											
AGBL5	60509	broad.mit.edu	37	chr2	27278901	27278902	+	Frame_Shift_Ins	INS	-	-	C													agtcagcccctgataccatcINSccccccaaagagagtggcgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:27278900_27278901T>TC	uc002rie.3	+	6	1476_1477	c.1259_1260T>TC	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Ins_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					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)					CCTGATACCATCCCCCCCAAAG	0.515													C	27278902	-	C	27278901	7	5	195	1	0	1	1	0	0	0	0	0	378	845	30	0	1282	0	AGBL5	2	27278901	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1313946	27278901	215920472	179	107283											
SLC5A6	8884	broad.mit.edu	37	chr2	27423438	27423438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaggaaacaggccagtgtCgaggtggtcctgcaaacaca	12	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:27423438C>T	uc002rjd.2	-	17	2165	c.1774G>A	c.(1774-1776)GAC>AAC	p.D592N	SLC5A6_uc010eyv.1_Missense_Mutation_p.D592N	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	592					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGGCCAGTGTCGAGGTGGTCC	0.587													T	27423438	C	T	27423438	3	4	195	1	0	0	0	0	1	0	0	0	14669	884	31	1	137	1	SLC5A6	2	27423438	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	144537	27423438	215775935	180	107284											
FOSL2	2355	broad.mit.edu	37	chr2	28631709	28631709	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtgccggaaccgacgccgGgagctgacagagaagctgca	15	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:28631709G>T	uc002rma.2	+	3	1247	c.438G>T	c.(436-438)CGG>CGT	p.R146R	FOSL2_uc010ymi.1_Silent_p.R107R	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	146	Basic motif.				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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					ACCGACGCCGGGAGCTGACAG	0.642													T	28631709	G	T	28631709	2	4	195	1	0	0	0	0	0	0	0	1	5988	1219	43	5		5	FOSL2	2	28631709	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1208271	28631709	214567664	181	107285											
BIRC6	57448	broad.mit.edu	37	chr2	32800338	32800338	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctttctacagagaacggTgaagaggaagaagaacagtc	11	9	1	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:32800338T>C	uc010ezu.2	+	66	13394	c.13260T>C	c.(13258-13260)GGT>GGC	p.G4420G		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4420					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGAGAACGGTGAAGAGGAAG	0.468													C	32800338	T	C	32800338	2	2	195	1	0	0	0	0	0	0	0	1	1438	1683	59	3		3	BIRC6	2	32800338	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	4168629	32800338	210399035	182	107286											
VIT	5212	broad.mit.edu	37	chr2	37035765	37035765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggctgacattggcttcGtcatcgacggctccagcagt	11	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:37035765G>A	uc002rpl.2	+	15	1761	c.1540G>A	c.(1540-1542)GTC>ATC	p.V514I	VIT_uc002rpm.2_Missense_Mutation_p.V492I|VIT_uc010ezv.2_Missense_Mutation_p.V470I|VIT_uc010ezw.2_Missense_Mutation_p.V471I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	499	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CATTGGCTTCGTCATCGACGG	0.597													A	37035765	G	A	37035765	3	1	195	1	0	0	0	0	1	0	0	0	17168	1145	40	1	1719	1	VIT	2	37035765	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4235427	37035765	206163608	183	107287											
STRN	6801	broad.mit.edu	37	chr2	37129804	37129804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtcatcttccctgtcCgtgacatcacttgaaaagcc	6	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:37129804C>T	uc002rpn.2	-	5	591	c.582G>A	c.(580-582)ACG>ACA	p.T194T	STRN_uc010ezx.2_Silent_p.T194T	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	194					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTTCCCTGTCCGTGACATCAC	0.418													T	37129804	C	T	37129804	2	4	195	1	0	0	0	0	0	0	0	1	15328	639	23	1		1	STRN	2	37129804	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	94039	37129804	206069569	184	107288											
HEATR5B	54497	broad.mit.edu	37	chr2	37208833	37208833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcattaaattctggagtgCaaactcatgaagatctttgg	9	6	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:37208833C>T	uc002rpp.1	-	36	6112	c.6016G>A	c.(6016-6018)GCA>ACA	p.A2006T	HEATR5B_uc002rpo.1_Missense_Mutation_p.A318T|HEATR5B_uc010ezy.1_Missense_Mutation_p.A501T	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	2006							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TTCTGGAGTGCAAACTCATGA	0.433													T	37208833	C	T	37208833	3	4	195	1	0	0	0	0	1	0	0	0	7032	710	25	2	203	2	HEATR5B	2	37208833	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	79029	37208833	205990540	185	107289											
EIF2AK2	5610	broad.mit.edu	37	chr2	37334430	37334430	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctctaacatgtgtgtcGttcatttttctctgggcttt	10	8	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:37334430G>A	uc010ynh.1	-	17	2199	c.1642C>T	c.(1642-1644)CGA>TGA	p.R548*	EIF2AK2_uc010fab.1_Nonsense_Mutation_p.R507*|EIF2AK2_uc010yng.1_Nonsense_Mutation_p.R505*|EIF2AK2_uc010fac.2_Nonsense_Mutation_p.R548*	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	548					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				CATGTGTGTCGTTCATTTTTC	0.363													A	37334430	G	A	37334430	4	1	195	1	0	0	0	0	0	1	0	0	4997	1153	40	1	17	1	EIF2AK2	2	37334430	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	125597	37334430	205864943	186	107290											
CEBPZ	10153	broad.mit.edu	37	chr2	37454928	37454928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttttttgacacaagtccGaaaaaagcaaaagtaaacag	6	6	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:37454928G>A	uc002rpz.2	-	2	1438	c.1408C>T	c.(1408-1410)CGG>TGG	p.R470W		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	470					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				ACACAAGTCCGAAAAAAGCAA	0.348													A	37454928	G	A	37454928	3	1	195	1	0	0	0	0	1	0	0	0	3204	1057	37	1	1816	1	CEBPZ	2	37454928	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	120498	37454928	205744445	187	107291											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					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)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	195	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	7095625	44550553	198648820	188	107292											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	195	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-CG-5728-01A-11D-1600-08	9616587	54167140	189032233	189	107293											
TSPYL6	388951	broad.mit.edu	37	chr2	54483258	54483258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcatagtcgagagtagCggggctgtgaggactctccg	16	9	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:54483258C>T	uc002rxr.2	-	1	152	c.31G>A	c.(31-33)GCT>ACT	p.A11T	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	11					nucleosome assembly	nucleus					0						TCGAGAGTAGCGGGGCTGTGA	0.597													T	54483258	C	T	54483258	3	4	195	1	0	0	0	0	1	0	0	0	16660	768	27	1	1205	1	TSPYL6	2	54483258	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	316118	54483258	188716115	190	107294											
SPTBN1	6711	broad.mit.edu	37	chr2	54877104	54877104	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacactacatttgagcatgAcatccaggctctgggcacac	9	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:54877104A>T	uc002rxu.2	+	26	5804	c.5555A>T	c.(5554-5556)GAC>GTC	p.D1852V	SPTBN1_uc002rxx.2_Missense_Mutation_p.D1839V|SPTBN1_uc002rxy.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1852	Interaction with ANK2.|Spectrin 15.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			TTTGAGCATGACATCCAGGCT	0.517													T	54877104	A	T	54877104	3	4	195	1	0	0	0	0	1	0	0	0	15118	275	10	5	5766	5	SPTBN1	2	54877104	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	393846	54877104	188322269	191	107295											
MTIF2	4528	broad.mit.edu	37	chr2	55490777	55490777	+	Splice_Site	DEL	T	T	-													aaaagaaatctgtaactaccTtttttgttactagaagccta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:55490776_55490776CT>C	uc002ryn.3	-	5	956	c.219_splice	c.e5+1	p.K73_splice	MTIF2_uc010yox.2_Splice_Site|MTIF2_uc002ryo.3_Splice_Site_p.K73_splice|MTIF2_uc002ryp.1_Splice_Site	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTGTAACTACCTTTTTTGTTA	0.507													-	55490777	T	-	55490777	8	5	195	1	0	1	0	1	0	0	1	0	9934	1623	56	0	2017	0	MTIF2	2	55490777	Splice_Site	DEL	T	TCGA-CG-5728-01A-11D-1600-08	613673	55490777	187708596	192	107296											
C2orf86	51057	broad.mit.edu	37	chr2	63540407	63540407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtcacgagcaccaacGtcaacagctaggagaaatgc	11	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:63540407G>A	uc002sch.2	-	13	2234	c.1788C>T	c.(1786-1788)GAC>GAT	p.D596D	C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.D437D|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.D404D	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	596					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						GAGCACCAACGTCAACAGCTA	0.373													A	63540407	G	A	63540407	2	1	195	1	0	0	0	0	0	0	0	1	2201	1136	40	1		1	C2orf86	2	63540407	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8049630	63540407	179658966	193	107297											
MDH1	4190	broad.mit.edu	37	chr2	63824675	63824675	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaaatcccagggtgcAgccttagataaatacgccaa	7	11	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:63824675A>C	uc002scj.1	+	4	398	c.342A>C	c.(340-342)GCA>GCC	p.A114A	MDH1_uc010ypv.1_Silent_p.A132A|MDH1_uc010ypw.1_Silent_p.A19A	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	114					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	CCCAGGGTGCAGCCTTAGATA	0.388													C	63824675	A	C	63824675	2	2	195	1	0	0	0	0	0	0	0	1	9408	175	7	5		5	MDH1	2	63824675	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	284268	63824675	179374698	194	107298											
UGP2	7360	broad.mit.edu	37	chr2	64111166	64111167	+	Frame_Shift_Ins	INS	-	-	A													taacacggatgaagataccaINSaaaaaatactacagaagtac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:64111165_64111166C>CA	uc010ypx.2	+	4	547_548	c.540_541C>CA	c.(538-543)accaaafs	p.T180fs	UGP2_uc002scl.3_Frame_Shift_Ins_p.T160fs|UGP2_uc002scm.3_Frame_Shift_Ins_p.T171fs	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	171					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATGAAGATACCAAAAAAATACT	0.327													A	64111167	-	A	64111166	7	5	195	1	0	1	1	0	0	0	0	0	16940	131	5	0	532	0	UGP2	2	64111166	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	286491	64111166	179088207	195	107299											
PELI1	57162	broad.mit.edu	37	chr2	64322001	64322001	+	Frame_Shift_Del	DEL	A	A	-													cacacatgcccacacgggctAaacgcatgggttggagggcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:64322000_64322000TA>T	uc002scs.4	-	5	5132	c.1093_1093TA>A	c.(1093-1095)agcfs	p.S365fs	PELI1_uc002sct.4_Frame_Shift_Del_p.S365fs|PELI1_uc002scr.4_Frame_Shift_Del_p.S186fs	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	365					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CCACACGGGCTAAACGCATGG	0.502													-	64322001	A	-	64322001	7	5	195	1	0	1	0	1	0	0	0	0	11721	359	13	0	168	0	PELI1	2	64322001	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	210835	64322001	178877372	196	107300											
ARHGAP25	9938	broad.mit.edu	37	chr2	69045039	69045039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagctgaactgtgctgttAacaagatgagtgtggacaac	11	7	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:69045039A>G	uc002seu.2	+	8	1277	c.913A>G	c.(913-915)AAC>GAC	p.N305D	ARHGAP25_uc010fdg.2_Missense_Mutation_p.N306D|ARHGAP25_uc010yql.1_Missense_Mutation_p.N266D|ARHGAP25_uc002sev.2_Missense_Mutation_p.N299D|ARHGAP25_uc002sew.2_Missense_Mutation_p.N298D|ARHGAP25_uc002sex.2_Missense_Mutation_p.N299D|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Missense_Mutation_p.N32D	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	305	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						CTGTGCTGTTAACAAGATGAG	0.493													G	69045039	A	G	69045039	3	3	195	1	0	0	0	0	1	0	0	0	874	362	13	3	986	3	ARHGAP25	2	69045039	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	4723038	69045039	174154334	197	107301											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046341	69046341	+	Frame_Shift_Del	DEL	C	C	-													ccaaggatatacccctgtcaCcccctgcccagaaaaatgac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:69046340_69046340AC>A	uc010fdg.3	+	8	1508	c.1089_1089AC>A	c.(1087-1089)tcafs	p.S363fs	ARHGAP25_uc010yql.2_Frame_Shift_Del_p.S323fs|ARHGAP25_uc002sev.3_Frame_Shift_Del_p.S356fs|ARHGAP25_uc002sew.3_Frame_Shift_Del_p.S355fs|ARHGAP25_uc002sex.3_Frame_Shift_Del_p.S356fs	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	362					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						TACCCCTGTCACCCCCTGCCC	0.512													-	69046341	C	-	69046341	7	5	195	1	0	1	0	1	0	0	0	0	874	507	18	0	1164	0	ARHGAP25	2	69046341	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	1302	69046341	174153032	198	107302											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71361201	71361203	+	In_Frame_Del	DEL	GAA	GAA	-													aagaagatgatgaaattgctGaagaagaagcagaagaacta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:71361200_71361202TGAA>T	uc002sht.2	+	2	1243_1245	c.891_893TGAA>T	c.(889-894)gctgaa>gcTa	p.E300del	MPHOSPH10_uc010feb.1_In_Frame_Del_p.E300del	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	300					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATGAAATTGCTGAAGAAGAAGCA	0.35													-	71361203	GAA	-	71361201	7	5	195	1	0	1	0	1	0	0	0	0	9725	1291	45	0	902	0	MPHOSPH10	2	71361201	In_Frame_Del	DEL	GAA	TCGA-CG-5728-01A-11D-1600-08	2314860	71361201	171838172	199	107303											
CYP26B1	56603	broad.mit.edu	37	chr2	72362528	72362528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactctccagggcctcgtgGctgaagatcttggagaagac	12	10	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:72362528G>A	uc002sih.1	-	3	450	c.450C>T	c.(448-450)AGC>AGT	p.S150S	CYP26B1_uc010yra.1_Silent_p.S133S|CYP26B1_uc010yrb.1_Silent_p.S75S	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	150					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			skin(2)	2						GGGCCTCGTGGCTGAAGATCT	0.617													A	72362528	G	A	72362528	2	1	195	1	0	0	0	0	0	0	0	1	4156	1194	42	2		2	CYP26B1	2	72362528	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1001327	72362528	170836845	200	107304											
EGR4	1961	broad.mit.edu	37	chr2	73518651	73518651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagccgctcctcggcgcgCgccttctgcttgaggtgcac	13	15	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:73518651C>T	uc010yrj.1	-	2	1779	c.1704G>A	c.(1702-1704)GCG>GCA	p.A568A	EGR4_uc010yrk.1_Silent_p.A567A	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	464						intracellular	nucleic acid binding|zinc ion binding				0						CCTCGGCGCGCGCCTTCTGCT	0.642													T	73518651	C	T	73518651	2	4	195	1	0	0	0	0	0	0	0	1	4974	755	27	1		1	EGR4	2	73518651	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1156123	73518651	169680722	201	107305											
C2orf78	388960	broad.mit.edu	37	chr2	74043913	74043913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacttcagcctccaacccCgtccatggaggaaacccact	7	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:74043913C>T	uc002sjr.1	+	3	2684	c.2563C>T	c.(2563-2565)CGT>TGT	p.R855C		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	855										ovary(2)	2						CCTCCAACCCCGTCCATGGAG	0.537													T	74043913	C	T	74043913	3	4	195	1	0	0	0	0	1	0	0	0	2195	652	23	1	2573	1	C2orf78	2	74043913	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	525262	74043913	169155460	202	107306											
CTNNA2	1496	broad.mit.edu	37	chr2	80136908	80136908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctccaggacctgctcagCgagtacatgaataatgtaag	11	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:80136908C>T	uc010ysh.1	+	6	1046	c.1041C>T	c.(1039-1041)AGC>AGT	p.S347S	CTNNA2_uc010yse.1_Silent_p.S347S|CTNNA2_uc010ysf.1_Silent_p.S347S|CTNNA2_uc010ysg.1_Silent_p.S347S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	347					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						ACCTGCTCAGCGAGTACATGA	0.562													T	80136908	C	T	80136908	2	4	195	1	0	0	0	0	0	0	0	1	4013	767	27	1		1	CTNNA2	2	80136908	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6092995	80136908	163062465	203	107307											
TMEM150A	129303	broad.mit.edu	37	chr2	85827121	85827123	+	In_Frame_Del	DEL	GCA	GCA	-													ctccaggagctgcccgtagcGcaggaggcagatcagggcca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:85827120_85827122CGCA>C	uc002spy.2	-	5	497_499	c.288_290TGCG>G	c.(286-291)ctgcgc>ctGc	p.R97del	USP39_uc002sqb.3_5'Flank|TMEM150A_uc002spx.2_In_Frame_Del_p.R13del|TMEM150A_uc002spz.2_In_Frame_Del_p.R44del	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA.	97						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CTGCCCGTAGCGCAGGAGGCAGA	0.65													-	85827123	GCA	-	85827121	7	5	195	1	0	1	0	1	0	0	0	0	16064	1087	38	0	538	0	TMEM150A	2	85827121	In_Frame_Del	DEL	GCA	TCGA-CG-5728-01A-11D-1600-08	5690213	85827121	157372252	204	107308											
SFTPB	6439	broad.mit.edu	37	chr2	85890587	85890587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggtggcactcagagtctCgcggcagccattctcctgtc	12	13	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:85890587C>T	uc002sqh.2	-	8	890	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	SFTPB_uc002sqi.2_Missense_Mutation_p.R303Q|SFTPB_uc002sqj.2_Missense_Mutation_p.R295Q|SFTPB_uc010ysw.1_5'Flank	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	295	Saposin B-type 3.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						CTCAGAGTCTCGCGGCAGCCA	0.612													T	85890587	C	T	85890587	3	4	195	1	0	0	0	0	1	0	0	0	14191	884	31	1	273	1	SFTPB	2	85890587	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	63466	85890587	157308786	205	107309											
SFTPB	6439	broad.mit.edu	37	chr2	85894899	85894899	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accagaactcagggccctggGcacaggccaaggatgaggtg	15	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:85894899G>C	uc002sqh.2	-	2	104	c.98C>G	c.(97-99)GCC>GGC	p.A33G	SFTPB_uc002sqi.2_Missense_Mutation_p.A45G|SFTPB_uc002sqj.2_Missense_Mutation_p.A33G	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	33	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						AGGGCCCTGGGCACAGGCCAA	0.587													C	85894899	G	C	85894899	3	2	195	1	0	0	0	0	1	0	0	0	14191	1203	42	5	1083	5	SFTPB	2	85894899	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4312	85894899	157304474	206	107310											
POLR1A	25885	broad.mit.edu	37	chr2	86292506	86292506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctccatatagtgctccCgggtgaaaaagcaaccccga	9	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:86292506C>T	uc002sqs.2	-	14	2328	c.1949G>A	c.(1948-1950)CGG>CAG	p.R650Q	POLR1A_uc010ytb.1_Missense_Mutation_p.R16Q	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	650					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			ovary(2)|skin(1)	3						ATAGTGCTCCCGGGTGAAAAA	0.547													T	86292506	C	T	86292506	3	4	195	1	0	0	0	0	1	0	0	0	12209	652	23	1	3297	1	POLR1A	2	86292506	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	397607	86292506	156906867	207	107311											
EIF2AK3	9451	broad.mit.edu	37	chr2	88882966	88882967	+	Frame_Shift_Ins	INS	-	-	T													ccgtgatatatatccagagtINStttttatgtcattccagcta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:88882965_88882966G>GT	uc002stc.4	-	9	2047_2048	c.1745_1746C>AC	c.(1744-1746)aacfs	p.N582fs		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	582					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein 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						TATATCCAGAGTTTTTTATGTC	0.327													T	88882967	-	T	88882966	7	5	195	1	0	1	1	0	0	0	0	0	4998	1725	60	0	1637	0	EIF2AK3	2	88882966	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	2590460	88882966	154316407	208	107312											
TEKT4	150483	broad.mit.edu	37	chr2	95539788	95539788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacatcgacgagacctgCgggcgccaccacagccagag	11	15	0	2	rs147190189		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:95539788C>T	uc002stw.1	+	3	741	c.648C>T	c.(646-648)TGC>TGT	p.C216C	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	216					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						ACGAGACCTGCGGGCGCCACC	0.657													T	95539788	C	T	95539788	2	4	195	1	0	0	0	0	0	0	0	1	15752	776	27	1		1	TEKT4	2	95539788	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6656822	95539788	147659585	209	107313											
SNRNP200	23020	broad.mit.edu	37	chr2	96944058	96944058	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatctcgataagccctcGcaccttggtcttggcattga	10	11	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:96944058G>A	uc002svu.2	-	39	5613	c.5527C>T	c.(5527-5529)CGA>TGA	p.R1843*	SNRNP200_uc002svt.2_Nonsense_Mutation_p.R453*|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1843	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						ATAAGCCCTCGCACCTTGGTC	0.507													A	96944058	G	A	96944058	4	1	195	1	0	0	0	0	0	1	0	0	14852	1095	38	1	911	1	SNRNP200	2	96944058	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1404270	96944058	146255315	210	107314											
FER1L5	90342	broad.mit.edu	37	chr2	97365388	97365388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataagataggaaccacagTcatcgaccttgaaaaccgac	8	10	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:97365388T>C	uc010fia.2	+	42	4793	c.4793T>C	c.(4792-4794)GTC>GCC	p.V1598A	FER1L5_uc002sws.3_Missense_Mutation_p.V316A|FER1L5_uc002swt.3_Missense_Mutation_p.V316A|FER1L5_uc010yus.1_Missense_Mutation_p.V315A	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1598	C2 5.					integral to membrane				ovary(1)	1						GGAACCACAGTCATCGACCTT	0.502													C	97365388	T	C	97365388	3	2	195	1	0	0	0	0	1	0	0	0	5814	1667	58	3	4959	3	FER1L5	2	97365388	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	421330	97365388	145833985	211	107315											
ANKRD23	200539	broad.mit.edu	37	chr2	97505471	97505471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccacactcaccgcgttcCgcacccccagctcggcccca	7	24	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:97505471C>T	uc002sxa.2	-	8	844	c.815G>A	c.(814-816)CGG>CAG	p.R272Q	ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Missense_Mutation_p.R230Q	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	diabetes related ankyrin repeat protein	272						nucleus				ovary(1)	1						CACCGCGTTCCGCACCCCCAG	0.682													T	97505471	C	T	97505471	3	4	195	1	0	0	0	0	1	0	0	0	652	652	23	1	110	1	ANKRD23	2	97505471	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	140083	97505471	145693902	212	107316											
EIF5B	9669	broad.mit.edu	37	chr2	99977650	99977651	+	Frame_Shift_Ins	INS	-	-	A													ggaattcacctcaaaagataINSaaaaaaagaaaggacagaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:99977649_99977650T>TA	uc002tab.3	+	3	469_470	c.285_286T>TA	c.(283-288)gataaafs	p.D95fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	95	Poly-Lys.				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						CCTCAAAAGATAAAAAAAAGAA	0.307													A	99977651	-	A	99977650	7	5	195	1	0	1	1	0	0	0	0	0	5044	363	13	0	300	0	EIF5B	2	99977650	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	2472179	99977650	143221723	213	107317											
RANBP2	5903	broad.mit.edu	37	chr2	109382947	109382947	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattctcatcacaatacggTaaaatggccaataaagcaaa	5	8	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:109382947T>C	uc002tem.3	+	20	6078	c.5952T>C	c.(5950-5952)GGT>GGC	p.G1984G		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1984					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						CACAATACGGTAAAATGGCCA	0.393													C	109382947	T	C	109382947	2	2	195	1	0	0	0	0	0	0	0	1	13028	1625	57	3		3	RANBP2	2	109382947	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	9405297	109382947	133816426	214	107318											
ANAPC1	64682	broad.mit.edu	37	chr2	112614258	112614259	+	Splice_Site	INS	-	-	T													cagcatggtgtctattttctINSaaaaaaacaaaaaagacaaa					rs4067742		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					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						TGTCTATTTTCTAAAAAAACAA	0.361													T	112614259	-	T	112614258	8	5	195	1	0	1	1	0	0	0	1	0	598	1536	53	0	4530	0	ANAPC1	2	112614258	Splice_Site	INS	-	TCGA-CG-5728-01A-11D-1600-08	3231311	112614258	130585115	215	107319											
SLC35F5	80255	broad.mit.edu	37	chr2	114480774	114480774	+	Splice_Site	DEL	A	A	-													gaggtaagaaagcagcccctAaaaaaaagaaaatatacatt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:114480773_114480773TA>T	uc002tku.1	-	13	1665	c.1251_splice	c.e13-1	p.W417_splice	SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	417					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaaga	0.338													-	114480774	A	-	114480774	8	5	195	1	0	1	0	1	0	0	1	0	14592	377	13	0		0	SLC35F5	2	114480774	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1866516	114480774	128718599	216	107320											
DDX18	8886	broad.mit.edu	37	chr2	118583908	118583909	+	Frame_Shift_Ins	INS	-	-	T													gagagggcatgccttgctcaINSttttgcgcccagaagaattg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:118583908_118583909insT	uc002tlh.1	+	11	1684_1685	c.1585_1586insT	c.(1585-1587)ATTfs	p.I529fs		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	529	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						TGCCTTGCTCATTTTGCGCCCA	0.436													T	118583909	-	T	118583908	7	5	195	1	0	1	1	0	0	0	0	0	4345	217	8	0	1627	0	DDX18	2	118583908	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	4103134	118583908	124615465	217	107321	517	2									
DDX18	8886	broad.mit.edu	37	chr2	118583909	118583910	+	Frame_Shift_Ins	INS	-	-	T													agagggcatgccttgctcatINStttgcgcccagaagaattgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:118583908_118583909A>AT	uc002tlh.1	+	10	1684_1685	c.1585_1586A>AT	c.(1585-1587)attfs	p.I529fs		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	529	Helicase C-terminal.						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						TGCCTTGCTCATTTTGCGCCCA	0.436													T	118583910	-	T	118583909	7	5	195	1	0	1	1	0	0	0	0	0	4345	1493	52	0	1628	0	DDX18	2	118583909	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1	118583909	124615464	218	107322	517	2									
SCTR	6344	broad.mit.edu	37	chr2	120231031	120231031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggttgacaggcttacccGcttctcgttggaagagtcgt	14	9	1	2	rs144705246	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:120231031G>A	uc002tma.2	-	4	629	c.403C>T	c.(403-405)CGG>TGG	p.R135W	SCTR_uc002tlz.2_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	135	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	AGGCTTACCCGCTTCTCGTTG	0.592													A	120231031	G	A	120231031	3	1	195	1	0	0	0	0	1	0	0	0	13943	1086	38	1	959	1	SCTR	2	120231031	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1647122	120231031	122968342	219	107323											
SCTR	6344	broad.mit.edu	37	chr2	120236486	120236486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttatgttgtcccacatccCctcacaacctgccaagaaaa	5	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:120236486C>A	uc002tma.2	-	3	428	c.202G>T	c.(202-204)GGG>TGG	p.G68W	SCTR_uc002tlz.2_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor	68	Extracellular (Potential).				digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	TCCCACATCCCCTCACAACCT	0.597													A	120236486	C	A	120236486	3	1	195	1	0	0	0	0	1	0	0	0	13943	623	22	5	1164	5	SCTR	2	120236486	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5455	120236486	122962887	220	107324											
TMEM177	80775	broad.mit.edu	37	chr2	120439310	120439310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttaccctacaccacccGccgggactctgtgctgcaga	8	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:120439310G>A	uc010flg.1	+	2	1354	c.881G>A	c.(880-882)CGC>CAC	p.R294H	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.R294H|TMEM177_uc002tmd.2_Missense_Mutation_p.R294H|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	294						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					TACACCACCCGCCGGGACTCT	0.577													A	120439310	G	A	120439310	3	1	195	1	0	0	0	0	1	0	0	0	16091	1087	38	1	883	1	TMEM177	2	120439310	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	202824	120439310	122760063	221	107325											
LRP1B	53353	broad.mit.edu	37	chr2	141081589	141081590	+	Frame_Shift_Del	DEL	AT	AT	-													ccatttttaggtcctgctccAtatatataatcttcaaagat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:141081588_141081589CAT>C	uc002tvj.1	-	80	13359_13360	c.12387_12388ATG>G	c.(12385-12390)tatggafs	p.Y4129fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4129					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Y4129N(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)		GGTCCTGCTCCATATATATAAT	0.297										TSP Lung(27;0.18)			-	141081590	AT	-	141081589	7	5	195	1	0	1	0	1	0	0	0	0	8955	224	8	0	1456	0	LRP1B	2	141081589	Frame_Shift_Del	DEL	AT	TCGA-CG-5728-01A-11D-1600-08	20642279	141081589	102117784	222	107326											
MBD5	55777	broad.mit.edu	37	chr2	149226158	149226158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagaaatctccattccgtGgcagccatggaggcctgccc	11	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:149226158G>T	uc002twm.3	+	9	1634	c.646G>T	c.(646-648)GGC>TGC	p.G216C	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G216C|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	216						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCATTCCGTGGCAGCCATGG	0.532													T	149226158	G	T	149226158	3	4	195	1	0	0	0	0	1	0	0	0	9347	1348	47	5	660	5	MBD5	2	149226158	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8144569	149226158	93973215	223	107327											
MBD5	55777	broad.mit.edu	37	chr2	149240765	149240765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgttcttcaagatggcGtcatagtcaccactgcagct	8	12	5	1	rs116207524	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:149240765G>A	uc002twm.3	+	10	3593	c.2605G>A	c.(2605-2607)GTC>ATC	p.V869I	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.V869I|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	869						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAAGATGGCGTCATAGTCAC	0.493													A	149240765	G	A	149240765	3	1	195	1	0	0	0	0	1	0	0	0	9347	1145	40	1	2623	1	MBD5	2	149240765	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	14607	149240765	93958608	224	107328											
NEB	4703	broad.mit.edu	37	chr2	152544188	152544188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccaacaggggaatggcGtccactttaatgtcaaactt	10	10	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:152544188G>A	uc010fnx.2	-	26	2666	c.2475C>T	c.(2473-2475)GAC>GAT	p.D825D		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	825	Nebulin 19.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGGAATGGCGTCCACTTTAA	0.493													A	152544188	G	A	152544188	2	1	195	1	0	0	0	0	0	0	0	1	10302	1136	40	1		1	NEB	2	152544188	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3303423	152544188	90655185	225	107329											
GALNT13	114805	broad.mit.edu	37	chr2	155102337	155102337	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctgcaggaaaacggttgtCtgccctatcattgatgtgat	10	9	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:155102337C>T	uc002tyr.3	+	7	1266	c.699C>T	c.(697-699)GTC>GTT	p.V233V	GALNT13_uc002tyt.3_Silent_p.V233V|GALNT13_uc010foc.1_Silent_p.V52V|GALNT13_uc010fod.2_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	233	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAACGGTTGTCTGCCCTATCA	0.348													T	155102337	C	T	155102337	2	4	195	1	0	0	0	0	0	0	0	1	6211	900	32	4		4	GALNT13	2	155102337	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2558149	155102337	88097036	226	107330											
ACVR1C	130399	broad.mit.edu	37	chr2	158390497	158390497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatacgaagagcagttaggCgggccgctccgttggcatac	13	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:158390497C>T	uc002tzk.3	-	9	1658	c.1415G>A	c.(1414-1416)CGC>CAC	p.R472H	ACVR1C_uc002tzl.3_Missense_Mutation_p.R392H|ACVR1C_uc010fof.2_Missense_Mutation_p.R315H|ACVR1C_uc010foe.2_Missense_Mutation_p.R422H	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	472	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						AGCAGTTAGGCGGGCCGCTCC	0.388													T	158390497	C	T	158390497	3	4	195	1	0	0	0	0	1	0	0	0	222	768	27	1	70	1	ACVR1C	2	158390497	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3288160	158390497	84808876	227	107331											
BAZ2B	29994	broad.mit.edu	37	chr2	160239212	160239212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccttccttcttcgcttgCgtcctggagtgggtgtgccc	11	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:160239212C>T	uc002uao.2	-	25	4215	c.3863G>A	c.(3862-3864)CGC>CAC	p.R1288H	BAZ2B_uc002uap.2_Missense_Mutation_p.R1252H	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TCTTCGCTTGCGTCCTGGAGT	0.338													T	160239212	C	T	160239212	3	4	195	1	0	0	0	0	1	0	0	0	1332	768	27	1	2695	1	BAZ2B	2	160239212	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1848715	160239212	82960161	228	107332											
BAZ2B	29994	broad.mit.edu	37	chr2	160295638	160295638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatctgaatcactgctaCtaatgccttcacttgaggtg	8	10	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:160295638C>T	uc002uao.2	-	7	1134	c.782G>A	c.(781-783)AGT>AAT	p.S261N	BAZ2B_uc002uap.2_Missense_Mutation_p.S259N|BAZ2B_uc002uas.1_Missense_Mutation_p.S198N|BAZ2B_uc002uau.1_Missense_Mutation_p.S259N|BAZ2B_uc002uaq.1_Missense_Mutation_p.S189N|BAZ2B_uc002uat.3_Missense_Mutation_p.S198N|BAZ2B_uc010fop.1_Missense_Mutation_p.S259N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	261	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						ATCACTGCTACTAATGCCTTC	0.348													T	160295638	C	T	160295638	3	4	195	1	0	0	0	0	1	0	0	0	1332	565	20	4	5848	4	BAZ2B	2	160295638	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	56426	160295638	82903735	229	107333											
LY75	4065	broad.mit.edu	37	chr2	160755441	160755441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgggagtgcaaatgaaagAgccgatgctgggacacccac	13	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:160755441A>G	uc002ubc.3	-	2	293	c.224T>C	c.(223-225)CTC>CCC	p.L75P	LY75_uc002ubb.3_Missense_Mutation_p.L75P|LY75_uc010fos.2_Missense_Mutation_p.L75P|LY75_uc010fot.1_Missense_Mutation_p.L75P	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	75	Extracellular (Potential).|Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		CAAATGAAAGAGCCGATGCTG	0.493													G	160755441	A	G	160755441	3	3	195	1	0	0	0	0	1	0	0	0	9099	304	11	3	5080	3	LY75	2	160755441	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	459803	160755441	82443932	230	107334											
RBMS1	5937	broad.mit.edu	37	chr2	161157216	161157216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaaatgaccaataacagCttcacatttttctgttgatt	4	7	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:161157216C>T	uc002ubo.2	-	6	1030	c.586G>A	c.(586-588)GCT>ACT	p.A196T	RBMS1_uc002ubj.2_Missense_Mutation_p.A163T|RBMS1_uc002ubk.2_Missense_Mutation_p.A163T|RBMS1_uc002ubl.2_Missense_Mutation_p.A194T|RBMS1_uc002ubn.2_Missense_Mutation_p.A196T|RBMS1_uc002ubi.3_Missense_Mutation_p.A196T|RBMS1_uc002ubm.2_Missense_Mutation_p.A163T|RBMS1_uc002ubp.2_Missense_Mutation_p.A196T|RBMS1_uc010fox.2_Missense_Mutation_p.A196T	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	196	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						CCAATAACAGCTTCACATTTT	0.284													T	161157216	C	T	161157216	3	4	195	1	0	0	0	0	1	0	0	0	13148	797	28	2	666	2	RBMS1	2	161157216	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	401775	161157216	82042157	231	107335											
GCA	25801	broad.mit.edu	37	chr2	163215634	163215634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaattttctttgatgattatGttgcttgctgtgtgaagctt	10	4	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:163215634G>T	uc002ucg.2	+	6	711	c.535G>T	c.(535-537)GTT>TTT	p.V179F	GCA_uc010zcu.1_Missense_Mutation_p.V160F	NM_012198	NP_036330	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	179	EF-hand 4.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity				0						TGATGATTATGTTGCTTGCTG	0.313													T	163215634	G	T	163215634	3	4	195	1	0	0	0	0	1	0	0	0	6283	1377	48	5	557	5	GCA	2	163215634	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2058418	163215634	79983739	232	107336											
COBLL1	22837	broad.mit.edu	37	chr2	165551064	165551064	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctatgggaggaggggaGgcttcagcaggagcctgacc	19	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:165551064G>T	uc010zcw.1	-	15	3277	c.3153C>A	c.(3151-3153)GCC>GCA	p.A1051A	COBLL1_uc002ucp.2_Silent_p.A984A|COBLL1_uc002ucq.2_Silent_p.A946A|COBLL1_uc010zcx.1_Silent_p.A992A|COBLL1_uc002ucn.2_Silent_p.A412A|COBLL1_uc002uco.2_Silent_p.A715A	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	1022										ovary(2)|pancreas(1)	3						GAGGAGGGGAGGCTTCAGCAG	0.468													T	165551064	G	T	165551064	2	4	195	1	0	0	0	0	0	0	0	1	3654	987	35	5		5	COBLL1	2	165551064	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2335430	165551064	77648309	233	107337											
SCN9A	6335	broad.mit.edu	37	chr2	167144965	167144965	+	Frame_Shift_Del	DEL	T	T	-													acctcagcttcttcttgctcTtttttaagacggtctaacat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:167144964_167144964CT>C	uc010fpl.3	-	9	1638	c.1297_1297AG>G	c.(1297-1299)gagfs	p.E433fs	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Frame_Shift_Del_p.E304fs|SCN9A_uc002uds.1_Frame_Shift_Del_p.E304fs|SCN9A_uc002udt.1_Frame_Shift_Del_p.E304fs	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	433						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)	TCTTCTTGCTCTTTTTTAAGA	0.388													-	167144965	T	-	167144965	7	5	195	1	0	1	0	1	0	0	0	0	13925	1606	56	0	4709	0	SCN9A	2	167144965	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	1593901	167144965	76054408	234	107338											
XIRP2	129446	broad.mit.edu	37	chr2	168106895	168106895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagagagaatatgcagttcAcattgccatggagaataatt	9	5	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:168106895A>G	uc002udx.2	+	8	9011	c.8993A>G	c.(8992-8994)CAC>CGC	p.H2998R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.H2823R|XIRP2_uc010fpq.2_Missense_Mutation_p.H2776R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.H344R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2823	Potential.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TATGCAGTTCACATTGCCATG	0.328													G	168106895	A	G	168106895	3	3	195	1	0	0	0	0	1	0	0	0	17427	159	6	3	9023	3	XIRP2	2	168106895	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	961930	168106895	75092478	235	107339											
LRP2	4036	broad.mit.edu	37	chr2	170055371	170055371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaataaacgcgaggaatacAaatatttgaattatgacatt	6	5	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:170055371A>T	uc002ues.2	-	45	8716	c.8503T>A	c.(8503-8505)TGT>AGT	p.C2835S		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2835	LDL-receptor class A 19.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	CGAGGAATACAAATATTTGAA	0.353													T	170055371	A	T	170055371	3	4	195	1	0	0	0	0	1	0	0	0	8956	130	5	5	5604	5	LRP2	2	170055371	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1948476	170055371	73144002	236	107340											
LRP2	4036	broad.mit.edu	37	chr2	170101368	170101368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatccacacagtcgttgcGtttgtcacagcgccagtgtg	11	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:170101368G>A	uc002ues.2	-	22	3478	c.3265C>T	c.(3265-3267)CGC>TGC	p.R1089C	LRP2_uc010zdf.1_Missense_Mutation_p.R952C	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1089	LDL-receptor class A 9.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	CAGTCGTTGCGTTTGTCACAG	0.512													A	170101368	G	A	170101368	3	1	195	1	0	0	0	0	1	0	0	0	8956	1145	40	1	10934	1	LRP2	2	170101368	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	45997	170101368	73098005	237	107341											
DYNC1I2	1781	broad.mit.edu	37	chr2	172583353	172583353	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagatgcccctcatgAgcctgatggtgtggcccttg	12	11	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:172583353A>C	uc002uha.1	+	11	1088	c.923A>C	c.(922-924)GAG>GCG	p.E308A	DYNC1I2_uc002uhc.2_Missense_Mutation_p.E282A|DYNC1I2_uc002uhb.1_Missense_Mutation_p.E282A|DYNC1I2_uc010zds.1_Missense_Mutation_p.E300A|DYNC1I2_uc002uhd.1_Missense_Mutation_p.E302A|DYNC1I2_uc002uhe.1_Missense_Mutation_p.E308A|DYNC1I2_uc002uhf.1_Missense_Mutation_p.E282A|DYNC1I2_uc010zdt.1_Missense_Mutation_p.E300A|DYNC1I2_uc002uhg.1_Missense_Mutation_p.E223A|DYNC1I2_uc010zdu.1_Missense_Mutation_p.E31A	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	308	WD 1.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GCCCCTCATGAGCCTGATGGT	0.418													C	172583353	A	C	172583353	3	2	195	1	0	0	0	0	1	0	0	0	4843	304	11	5	961	5	DYNC1I2	2	172583353	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2481985	172583353	70616020	238	107342											
CHN1	1123	broad.mit.edu	37	chr2	175664964	175664964	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataagggtgggtccaaagacGattccaaggttctctgcatt	11	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:175664964G>A	uc002uji.2	-	13	1790	c.1260C>T	c.(1258-1260)ATC>ATT	p.I420I	CHN1_uc010zeq.1_Silent_p.I394I|CHN1_uc002ujj.2_Silent_p.I195I|CHN1_uc002ujg.2_Silent_p.I295I	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	420	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			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GTCCAAAGACGATTCCAAGGT	0.428			T	TAF15	extraskeletal myxoid chondrosarcoma								A	175664964	G	A	175664964	2	1	195	1	0	0	0	0	0	0	0	1	3362	1048	37	1		1	CHN1	2	175664964	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3081611	175664964	67534409	239	107343											
TTN	7273	broad.mit.edu	37	chr2	179428524	179428524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccatatttattcacagcCatgacacggaaaatgtactc	5	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179428524C>T	uc010zfg.1	-	275	74855	c.74631G>A	c.(74629-74631)ATG>ATA	p.M24877I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M18572I|TTN_uc010zfi.1_Missense_Mutation_p.M18505I|TTN_uc010zfj.1_Missense_Mutation_p.M18380I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25804							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCACAGCCATGACACGGA	0.468													T	179428524	C	T	179428524	3	4	195	1	0	0	0	0	1	0	0	0	16732	594	21	4	25792	4	TTN	2	179428524	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3763560	179428524	63770849	240	107344											
TTN	7273	broad.mit.edu	37	chr2	179434204	179434204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcaattatagctgcatctCggatttcaccatccaccttt	4	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179434204C>T	uc010zfg.1	-	275	69175	c.68951G>A	c.(68950-68952)CGA>CAA	p.R22984Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16679Q|TTN_uc010zfi.1_Missense_Mutation_p.R16612Q|TTN_uc010zfj.1_Missense_Mutation_p.R16487Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23911							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTGCATCTCGGATTTCACC	0.388													T	179434204	C	T	179434204	3	4	195	1	0	0	0	0	1	0	0	0	16732	884	31	1	31472	1	TTN	2	179434204	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5680	179434204	63765169	241	107345											
TTN	7273	broad.mit.edu	37	chr2	179460530	179460530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgttccaacgggacctGgaacatctggaaataagaag	12	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179460530G>A	uc010zfg.1	-	244	50071	c.49847C>T	c.(49846-49848)CCA>CTA	p.P16616L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P10311L|TTN_uc010zfi.1_Missense_Mutation_p.P10244L|TTN_uc010zfj.1_Missense_Mutation_p.P10119L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17543							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGGGACCTGGAACATCTGG	0.393													A	179460530	G	A	179460530	3	1	195	1	0	0	0	0	1	0	0	0	16732	1348	47	4	50700	4	TTN	2	179460530	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	26326	179460530	63738843	242	107346											
TTN	7273	broad.mit.edu	37	chr2	179472135	179472135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacattccttaccaaaaacTtctaccctggctgctgcaaa	4	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179472135T>G	uc010zfg.1	-	226	45800	c.45576A>C	c.(45574-45576)GAA>GAC	p.E15192D	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8887D|TTN_uc010zfi.1_Missense_Mutation_p.E8820D|TTN_uc010zfj.1_Missense_Mutation_p.E8695D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16119							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAAAACTTCTACCCTGG	0.383													G	179472135	T	G	179472135	3	3	195	1	0	0	0	0	1	0	0	0	16732	1606	56	5	54757	5	TTN	2	179472135	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	11605	179472135	63727238	243	107347											
TTN	7273	broad.mit.edu	37	chr2	179552924	179552924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acacaccttcctcctcttctGagtaactccattcctcctct	2	18	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179552924G>A	uc010zfg.1	-	124	28717	c.28493C>T	c.(28492-28494)TCA>TTA	p.S9498L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S6159L|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10425							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTCTTCTGAGTAACTCCA	0.393													A	179552924	G	A	179552924	3	1	195	1	0	0	0	0	1	0	0	0	16732	1294	45	4	72248	4	TTN	2	179552924	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	80789	179552924	63646449	244	107348											
TTN	7273	broad.mit.edu	37	chr2	179605532	179605532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggagatggttccttgAgaggctgaaagtgaatactg	16	4	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179605532A>G	uc010zfh.1	-	46	12139	c.11915T>C	c.(11914-11916)CTC>CCC	p.L3972P	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3905P|TTN_uc010zfj.1_Missense_Mutation_p.L3780P|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTCCTTGAGAGGCTGAAA	0.468													G	179605532	A	G	179605532	3	3	195	1	0	0	0	0	1	0	0	0	16732	304	11	3	92361	3	TTN	2	179605532	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	52608	179605532	63593841	245	107349											
TTN	7273	broad.mit.edu	37	chr2	179628939	179628939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaaaacgggctggcTgcccttcagaagtgacagtg	14	9	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179628939T>C	uc010zfg.1	-	43	10303	c.10079A>G	c.(10078-10080)CAG>CGG	p.Q3360R	TTN_uc010zfh.1_Missense_Mutation_p.Q3314R|TTN_uc010zfi.1_Missense_Mutation_p.Q3314R|TTN_uc010zfj.1_Missense_Mutation_p.Q3314R|TTN_uc002umz.1_Missense_Mutation_p.Q21R|TTN_uc002unb.2_Missense_Mutation_p.Q3360R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGGGCTGGCTGCCCTTCAGA	0.443													C	179628939	T	C	179628939	3	2	195	1	0	0	0	0	1	0	0	0	16732	1580	55	3	101189	3	TTN	2	179628939	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	23407	179628939	63570434	246	107350											
CCDC141	285025	broad.mit.edu	37	chr2	179710387	179710387	+	Frame_Shift_Del	DEL	T	T	-													cattgaatattgtctgcttaTtttttgctggttcctttagc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179710386_179710386AT>A	uc002une.2	-	21	3559	c.3441_3441AT>T	c.(3439-3441)aatfs	p.N1147fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.N626fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	572							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)			TTGTCTGCTTATTTTTTGCTG	0.348													-	179710387	T	-	179710387	7	5	195	1	0	1	0	1	0	0	0	0	2775	1493	52	0	920	0	CCDC141	2	179710387	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	81448	179710387	63488986	247	107351											
SESTD1	91404	broad.mit.edu	37	chr2	179986571	179986571	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctttattttcaatggttacAtcctttccataggcccagga	6	10	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179986571A>T	uc002uni.3	-	13	1518	c.1368T>A	c.(1366-1368)GAT>GAA	p.D456E	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	456	Spectrin 2.				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAATGGTTACATCCTTTCCAT	0.393													T	179986571	A	T	179986571	3	4	195	1	0	0	0	0	1	0	0	0	14127	214	8	5	746	5	SESTD1	2	179986571	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	276184	179986571	63212802	248	107352											
SESTD1	91404	broad.mit.edu	37	chr2	179986628	179986629	+	Frame_Shift_Ins	INS	-	-	T													gatccaggagaccttgacctINSttttcacgcaaaccttgcaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:179986627_179986628C>CT	uc002uni.4	-	12	1461_1462	c.1311_1312G>AG	c.(1309-1314)aaaggtfs	p.K437fs	SESTD1_uc002unh.4_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	437					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)			AGACCTTGACCTTTTTCACGCA	0.416													T	179986629	-	T	179986628	7	5	195	1	0	1	1	0	0	0	0	0	14127	1606	56	0	803	0	SESTD1	2	179986628	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	57	179986628	63212745	249	107353											
SSFA2	6744	broad.mit.edu	37	chr2	182786912	182786912	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaggaagaaagtgttcCgagcatcggtggctctaacg	14	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:182786912C>T	uc002uoi.2	+	16	3770	c.3448C>T	c.(3448-3450)CGA>TGA	p.R1150*	SSFA2_uc002uoh.2_Nonsense_Mutation_p.R1150*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.R1128*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.R975*|SSFA2_uc002uol.2_Nonsense_Mutation_p.R997*|SSFA2_uc002uom.2_Nonsense_Mutation_p.R614*	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1150						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GAAAGTGTTCCGAGCATCGGT	0.498													T	182786912	C	T	182786912	4	4	195	1	0	0	0	0	0	1	0	0	15182	644	23	1	3510	1	SSFA2	2	182786912	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2800284	182786912	60412461	250	107354											
PPP1R1C	151242	broad.mit.edu	37	chr2	182852584	182852584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcaggaaaagaagacctAcaccagcatcacttgtgatt	8	9	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:182852584A>G	uc002uoo.2	+	2	387	c.100A>G	c.(100-102)ACA>GCA	p.T34A	PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Missense_Mutation_p.T34A|PPP1R1C_uc010frm.1_Missense_Mutation_p.T41A|PPP1R1C_uc010frn.1_RNA	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	34					signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AAGAAGACCTACACCAGCATC	0.428													G	182852584	A	G	182852584	3	3	195	1	0	0	0	0	1	0	0	0	12369	391	14	3	106	3	PPP1R1C	2	182852584	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	65672	182852584	60346789	251	107355											
NCKAP1	10787	broad.mit.edu	37	chr2	183822241	183822241	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacctggtttctccctttcAggttcccctttcttaccagt	5	15	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:183822241A>G	uc002upc.2	-	19	2367	c.1965T>C	c.(1963-1965)CCT>CCC	p.P655P	NCKAP1_uc002upb.2_Silent_p.P661P	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	655					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCTCCCTTTCAGGTTCCCCTT	0.383													G	183822241	A	G	183822241	2	3	195	1	0	0	0	0	0	0	0	1	10221	175	7	3		3	NCKAP1	2	183822241	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	969657	183822241	59377132	252	107356											
OSGEPL1	64172	broad.mit.edu	37	chr2	190620089	190620089	+	Frame_Shift_Del	DEL	T	T	-													gatgaatgggaatgaatggcTtttttaactgtcctaccagc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:190620088_190620088CT>C	uc002uqz.1	-	2	954	c.420_420AG>G	c.(418-420)aagfs	p.K140fs	OSGEPL1_uc002ura.1_Non-coding_Transcript|OSGEPL1_uc010zfy.1_Frame_Shift_Del_p.K140fs	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1), mRNA.	140					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)			GAATGAATGGCTTTTTTAACT	0.398													-	190620089	T	-	190620089	7	5	195	1	0	1	0	1	0	0	0	0	11288	1609	56	0	849	0	OSGEPL1	2	190620089	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	6797848	190620089	52579284	253	107357											
ANKRD44	91526	broad.mit.edu	37	chr2	197878289	197878289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcacaaagatggatgCgccctgattgataagcgctt	10	9	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:197878289C>T	uc002uua.1	-	18	1872	c.1795G>A	c.(1795-1797)GCA>ACA	p.A599T	ANKRD44_uc002utz.3_Missense_Mutation_p.A331T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	624	ANK 18.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGATGGATGCGCCCTGATTG	0.498													T	197878289	C	T	197878289	3	4	195	1	0	0	0	0	1	0	0	0	672	768	27	1	1000	1	ANKRD44	2	197878289	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	7258200	197878289	45321084	254	107358											
SGOL2	151246	broad.mit.edu	37	chr2	201438019	201438019	+	Frame_Shift_Del	DEL	A	A	-													tagattcctacaaagtagttAaaaaacgtaagaaagaatca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:201438018_201438018TA>T	uc002uvw.2	+	6	3062	c.2949_2949TA>T	c.(2947-2949)gttfs	p.V983fs	SGOL2_uc010zhd.1_Frame_Shift_Del_p.V983fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.V983fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	983					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.V982E(1)		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						ACAAAGTAGTTAAAAAACGTA	0.308													-	201438019	A	-	201438019	7	5	195	1	0	1	0	1	0	0	0	0	14217	363	13	0	2972	0	SGOL2	2	201438019	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	3559730	201438019	41761354	255	107359											
AOX1	316	broad.mit.edu	37	chr2	201477410	201477410	+	Frame_Shift_Del	DEL	T	T	-													tcaattcaggaatgagagtcTtttttggagaaggggatggc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:201477409_201477409CT>C	uc002uvx.3	+	13	1442	c.1341_1341CT>C	c.(1339-1341)gtcfs	p.V447fs	AOX1_uc010zhf.2_Frame_Shift_Del_p.V3fs|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	447					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.F448fs*10(1)		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)	GAATGAGAGTCTTTTTTGGAG	0.473													-	201477410	T	-	201477410	7	5	195	1	0	1	0	1	0	0	0	0	729	1609	56	0	1396	0	AOX1	2	201477410	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	39391	201477410	41721963	256	107360											
TRAK2	66008	broad.mit.edu	37	chr2	202272204	202272204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggtgtggagactgagTccagtcttgattttcatata	11	8	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:202272204T>C	uc002uyb.3	-	3	654	c.208A>G	c.(208-210)ACT>GCT	p.T70A	TRAK2_uc002uyc.2_Missense_Mutation_p.T70A	NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	70						early endosome|plasma membrane	GABA receptor binding				0						GGAGACTGAGTCCAGTCTTGA	0.438													C	202272204	T	C	202272204	3	2	195	1	0	0	0	0	1	0	0	0	16447	1667	58	3	2592	3	TRAK2	2	202272204	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	794794	202272204	40927169	257	107361											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352367	202352367	+	Frame_Shift_Del	DEL	T	T	-													tttaattttttttggccgcaTtttatgcatttcataatctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:202352366_202352366AT>A	uc002uyf.3	-	15	5484	c.5432_5432AT>T	c.(5431-5433)atgfs	p.M1811fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.M614fs|ALS2CR11_uc010fti.3_3'UTR	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	614										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTTTGGCCGCATTTTATGCAT	0.328													-	202352367	T	-	202352367	7	5	195	1	0	1	0	1	0	0	0	0	552	1493	52	0	35	0	ALS2CR11	2	202352367	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	80163	202352367	40847006	258	107362											
BMPR2	659	broad.mit.edu	37	chr2	203384875	203384875	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcttgccgtcttgctcaTtctgttactagaggactggc	10	11	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:203384875T>G	uc002uzf.3	+	7	2066	c.918T>G	c.(916-918)CAT>CAG	p.H306Q	BMPR2_uc010ftr.2_Missense_Mutation_p.H306Q	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	306	Protein kinase.|Cytoplasmic (Potential).				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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GTCTTGCTCATTCTGTTACTA	0.383													G	203384875	T	G	203384875	3	3	195	1	0	0	0	0	1	0	0	0	1471	1490	52	5	944	5	BMPR2	2	203384875	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1032508	203384875	39814498	259	107363											
NBEAL1	65065	broad.mit.edu	37	chr2	204045236	204045236	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttggaaaatcaaaatcGtaagaaatagaggattaaaa	8	2	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:204045236G>A	uc002uzt.3	+	42	6841	c.6508_splice	c.e42+1	p.Q2170_splice	NBEAL1_uc002uzs.3_Splice_Site_p.Q880_splice	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3								binding			ovary(1)|skin(1)	2						AATCAAAATCGTAAGAAATAG	0.338													A	204045236	G	A	204045236	5	1	195	1	0	0	0	0	0	0	1	0	10188	1159	40	1	6671	1	NBEAL1	2	204045236	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	660361	204045236	39154137	260	107364											
NBEAL1	65065	broad.mit.edu	37	chr2	204075771	204075771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcagatatatgtataatcGgagaacacattgtcacaggc	8	7	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:204075771G>A	uc002uzt.3	+	53	8122	c.7789G>A	c.(7789-7791)GGA>AGA	p.G2597R	NBEAL1_uc002uzs.3_Missense_Mutation_p.G1238R|NBEAL1_uc002uzu.2_Missense_Mutation_p.G92R	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2597							binding			ovary(1)|skin(1)	2						ATGTATAATCGGAGAACACAT	0.348													A	204075771	G	A	204075771	3	1	195	1	0	0	0	0	1	0	0	0	10188	1117	39	1	7995	1	NBEAL1	2	204075771	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	30535	204075771	39123602	261	107365											
ABCA12	26154	broad.mit.edu	37	chr2	215823039	215823039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttacccagtagcatgtcaCgccaatgcctgaaatgtgct	9	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:215823039C>T	uc002vew.2	-	41	6299	c.6079G>A	c.(6079-6081)GTG>ATG	p.V2027M	ABCA12_uc002vev.2_Missense_Mutation_p.V1709M|ABCA12_uc010zjn.1_Missense_Mutation_p.V954M	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2027					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TAGCATGTCACGCCAATGCCT	0.428													T	215823039	C	T	215823039	3	4	195	1	0	0	0	0	1	0	0	0	30	536	19	1	1760	1	ABCA12	2	215823039	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	11747268	215823039	27376334	262	107366											
FN1	2335	broad.mit.edu	37	chr2	216226782	216226782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcacccccaggtctgcgGcagttgtcacagcgccagcc	12	16	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:216226782G>A	uc002vfa.2	-	45	7538	c.7272C>T	c.(7270-7272)TGC>TGT	p.C2424C	FN1_uc002vfb.2_Silent_p.C2212C|FN1_uc002vfc.2_Silent_p.C2187C|FN1_uc002vfd.2_Silent_p.C2368C|FN1_uc002vfe.2_Silent_p.C2302C|FN1_uc002vff.2_Silent_p.C2277C|FN1_uc002vfg.2_Silent_p.C2243C|FN1_uc002vfh.2_Silent_p.C2123C|FN1_uc002vfi.2_Silent_p.C2393C|FN1_uc002vfj.2_Silent_p.C2214C|FN1_uc002vez.2_Silent_p.C587C|FN1_uc010zjp.1_Silent_p.C961C	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2333	Fibrin-binding 2.|Fibronectin type-I 12.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CAGGTCTGCGGCAGTTGTCAC	0.478													A	216226782	G	A	216226782	2	1	195	1	0	0	0	0	0	0	0	1	5962	1195	42	2		2	FN1	2	216226782	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	403743	216226782	26972591	263	107367											
FN1	2335	broad.mit.edu	37	chr2	216229623	216229623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggcctccaaagcatgtGcaggagcaaatggcaccgag	13	12	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:216229623G>A	uc002vfa.2	-	44	7496	c.7230C>T	c.(7228-7230)TGC>TGT	p.C2410C	FN1_uc002vfb.2_Silent_p.C2198C|FN1_uc002vfc.2_Silent_p.C2173C|FN1_uc002vfd.2_Silent_p.C2354C|FN1_uc002vfe.2_Silent_p.C2288C|FN1_uc002vff.2_Silent_p.C2263C|FN1_uc002vfg.2_Silent_p.C2229C|FN1_uc002vfh.2_Silent_p.C2109C|FN1_uc002vfi.2_Silent_p.C2379C|FN1_uc002vfj.2_Silent_p.C2200C|FN1_uc002vez.2_Silent_p.C573C|FN1_uc010zjp.1_Silent_p.C947C|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2319	Fibrin-binding 2.|Fibronectin type-I 12.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CAAAGCATGTGCAGGAGCAAA	0.498													A	216229623	G	A	216229623	2	1	195	1	0	0	0	0	0	0	0	1	5962	1311	46	2		2	FN1	2	216229623	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2841	216229623	26969750	264	107368											
FN1	2335	broad.mit.edu	37	chr2	216248175	216248175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgttgtcctgaacatcGgtcacttgcatctgggatgg	12	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:216248175G>A	uc002vfa.2	-	31	5192	c.4926C>T	c.(4924-4926)ACC>ACT	p.T1642T	FN1_uc002vfb.2_Silent_p.T1551T|FN1_uc002vfc.2_Silent_p.T1551T|FN1_uc002vfd.2_Silent_p.T1642T|FN1_uc002vfe.2_Silent_p.T1551T|FN1_uc002vff.2_Silent_p.T1551T|FN1_uc002vfg.2_Silent_p.T1551T|FN1_uc002vfh.2_Silent_p.T1551T|FN1_uc002vfi.2_Silent_p.T1642T|FN1_uc002vfj.2_Silent_p.T1642T|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.T269T|FN1_uc010fvc.1_Silent_p.T4T|FN1_uc010fvd.1_Silent_p.T4T	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1641	Fibronectin type-III 12; extra domain.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CCTGAACATCGGTCACTTGCA	0.473													A	216248175	G	A	216248175	2	1	195	1	0	0	0	0	0	0	0	1	5962	1103	39	1		1	FN1	2	216248175	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	18552	216248175	26951198	265	107369											
FN1	2335	broad.mit.edu	37	chr2	216262429	216262429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactttgtttacaattggcGcatctctttcctgtccatct	5	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:216262429G>A	uc002vfa.2	-	22	3757	c.3491C>T	c.(3490-3492)GCG>GTG	p.A1164V	FN1_uc002vfb.2_Missense_Mutation_p.A1164V|FN1_uc002vfc.2_Missense_Mutation_p.A1164V|FN1_uc002vfd.2_Missense_Mutation_p.A1164V|FN1_uc002vfe.2_Missense_Mutation_p.A1164V|FN1_uc002vff.2_Missense_Mutation_p.A1164V|FN1_uc002vfg.2_Missense_Mutation_p.A1164V|FN1_uc002vfh.2_Missense_Mutation_p.A1164V|FN1_uc002vfi.2_Missense_Mutation_p.A1164V|FN1_uc002vfj.2_Missense_Mutation_p.A1164V	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1164	|Fibronectin type-III 6.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	TACAATTGGCGCATCTCTTTC	0.403													A	216262429	G	A	216262429	3	1	195	1	0	0	0	0	1	0	0	0	5962	1087	38	1	4042	1	FN1	2	216262429	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	14254	216262429	26936944	266	107370											
PECR	55825	broad.mit.edu	37	chr2	216930130	216930132	+	In_Frame_Del	DEL	CCT	CCT	-													cagcaggggaaagaaactggCctcctccattgttcaccaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:216930129_216930131GCCT>G	uc002vft.3	-	2	403_405	c.328_330AGGC>C	c.(328-330)ggc>C	p.G110del	PECR_uc010zjq.2_Non-coding_Transcript	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	110					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	AAAGAAACTGGCCTCCTCCATTG	0.429													-	216930132	CCT	-	216930130	7	5	195	1	0	1	0	1	0	0	0	0	11717	739	26	0	606	0	PECR	2	216930130	In_Frame_Del	DEL	CCT	TCGA-CG-5728-01A-11D-1600-08	667701	216930130	26269243	267	107371											
XRCC5	7520	broad.mit.edu	37	chr2	216992312	216992312	+	Frame_Shift_Del	DEL	A	A	-													gttgtggatgcaaaaaccctAaaaaaagaagatatacaaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:216992311_216992311TA>T	uc002vfy.3	+	7	991	c.851_851TA>T	c.(850-852)ctafs	p.L284fs	XRCC5_uc002vfz.3_Frame_Shift_Del_p.L170fs	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	284	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCAAAAACCCTAAAAAAAGAA	0.313								Non-homologous end-joining					-	216992312	A	-	216992312	7	5	195	1	0	1	0	1	0	0	0	0	17453	349	13	0	882	0	XRCC5	2	216992312	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	62182	216992312	26207061	268	107372											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285159	217285159	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttcatttgtcaaagggCgatgcatgctcatctccagg	9	12	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:217285159C>T	uc002vgc.3	+	5	1330	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.R334*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.R334*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	334					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			ovary(3)|breast(3)|skin(1)	7		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)		TGTCAAAGGGCGATGCATGCT	0.527									Schimke_Immuno-Osseous_Dysplasia				T	217285159	C	T	217285159	4	4	195	1	0	0	0	0	0	1	0	0	14773	760	27	1	1010	1	SMARCAL1	2	217285159	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	292847	217285159	25914214	269	107373											
TNS1	7145	broad.mit.edu	37	chr2	218713378	218713378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggatgtctgtctccCgctcagatgctaacgcccca	9	16	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:218713378C>T	uc002vgt.2	-	17	1885	c.1487G>A	c.(1486-1488)CGG>CAG	p.R496Q	TNS1_uc002vgr.2_Missense_Mutation_p.R496Q|TNS1_uc002vgs.2_Missense_Mutation_p.R496Q|TNS1_uc010zjv.1_Missense_Mutation_p.R496Q|TNS1_uc010fvj.1_Missense_Mutation_p.R564Q|TNS1_uc010fvk.1_Missense_Mutation_p.R621Q|TNS1_uc010fvi.1_Missense_Mutation_p.R183Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	496						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		GTCTGTCTCCCGCTCAGATGC	0.617													T	218713378	C	T	218713378	3	4	195	1	0	0	0	0	1	0	0	0	16340	652	23	1	3788	1	TNS1	2	218713378	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1428219	218713378	24485995	270	107374											
PAX3	5077	broad.mit.edu	37	chr2	223159014	223159014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttctcaggatgcggctgatgGaactcactgggggcgggagg	18	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:223159014G>T	uc010fwo.2	-	4	824	c.458C>A	c.(457-459)TCC>TAC	p.S153Y	PAX3_uc002vmt.1_Missense_Mutation_p.S153Y|PAX3_uc002vmy.1_Missense_Mutation_p.S152Y|PAX3_uc002vmv.1_Missense_Mutation_p.S153Y|PAX3_uc002vmw.1_Missense_Mutation_p.S153Y|PAX3_uc002vmx.1_Missense_Mutation_p.S153Y|PAX3_uc002vmz.1_Missense_Mutation_p.S153Y|PAX3_uc002vna.1_Missense_Mutation_p.S153Y	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	153	Paired.				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/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		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)		GCGGCTGATGGAACTCACTGG	0.592			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223159014	G	T	223159014	3	4	195	1	0	0	0	0	1	0	0	0	11480	1174	41	5	1216	5	PAX3	2	223159014	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4445636	223159014	20040359	271	107375											
FARSB	10056	broad.mit.edu	37	chr2	223505594	223505594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattacctcttctgtgataAtcaatttctggatttttcca	4	8	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:223505594A>C	uc002vne.1	-	4	361	c.326T>G	c.(325-327)ATT>AGT	p.I109S	FARSB_uc010zlq.1_Missense_Mutation_p.I129S|FARSB_uc002vnf.1_Missense_Mutation_p.I10S	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	109					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		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)	TTCTGTGATAATCAATTTCTG	0.289													C	223505594	A	C	223505594	3	2	195	1	0	0	0	0	1	0	0	0	5680	101	4	5	1499	5	FARSB	2	223505594	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	346580	223505594	19693779	272	107376											
SCG2	7857	broad.mit.edu	37	chr2	224463172	224463172	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcatctcatcgttgatttGttcatttttttctatattct	3	7	5	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:224463172G>C	uc002vnm.2	-	2	962	c.829C>G	c.(829-831)CAA>GAA	p.Q277E		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	277					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			ovary(1)	1		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)		TCGTTGATTTGTTCATTTTTT	0.448													C	224463172	G	C	224463172	3	2	195	1	0	0	0	0	1	0	0	0	13891	1386	48	5	1028	5	SCG2	2	224463172	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	957578	224463172	18736201	273	107377											
FAM124B	79843	broad.mit.edu	37	chr2	225265913	225265913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactgacattcccgggggCagctgcttcagggagagctg	14	12	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:225265913C>T	uc002vnx.2	-	1	799	c.573G>A	c.(571-573)CTG>CTA	p.L191L	FAM124B_uc002vnw.2_Silent_p.L191L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	191							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TTCCCGGGGGCAGCTGCTTCA	0.522													T	225265913	C	T	225265913	2	4	195	1	0	0	0	0	0	0	0	1	5426	697	25	2		2	FAM124B	2	225265913	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	802741	225265913	17933460	274	107378											
COL4A3	1285	broad.mit.edu	37	chr2	228153918	228153918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgttccagggatgccAggtttaaagggcctcaaagg	15	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:228153918A>G	uc002vom.1	+	35	3096	c.2934A>G	c.(2932-2934)CCA>CCG	p.P978P	COL4A3_uc002von.1_Silent_p.P978P|COL4A3_uc002voo.1_Silent_p.P978P|COL4A3_uc002vop.1_Silent_p.P978P|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	978	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			skin(2)|ovary(1)	3		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)		CAGGGATGCCAGGTTTAAAGG	0.403													G	228153918	A	G	228153918	2	3	195	1	0	0	0	0	0	0	0	1	3691	175	7	3		3	COL4A3	2	228153918	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2888005	228153918	15045455	275	107379											
MFF	56947	broad.mit.edu	37	chr2	228211948	228211948	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgtaaacagtgtgacAccatcgccacaacaggctcg	10	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:228211948A>G	uc002vos.2	+	8	1018	c.600A>G	c.(598-600)ACA>ACG	p.T200T	MFF_uc002vot.2_Silent_p.T149T|MFF_uc002vou.2_Intron|MFF_uc002vov.2_Intron|MFF_uc002vow.2_Intron|MFF_uc002vox.2_Intron|MFF_uc002voy.2_Silent_p.T200T|MFF_uc002voz.2_Intron|MFF_uc002vpa.2_5'UTR	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	200	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						ACAGTGTGACACCATCGCCAC	0.418													G	228211948	A	G	228211948	2	3	195	1	0	0	0	0	0	0	0	1	9519	146	6	3		3	MFF	2	228211948	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	58030	228211948	14987425	276	107380											
TM4SF20	79853	broad.mit.edu	37	chr2	228228629	228228629	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagatgctctccagccactCgccatggtgtcgttactggt	10	13	1	1	rs141014397		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:228228629C>T	uc002vpb.2	-	4	539	c.501G>A	c.(499-501)GCG>GCA	p.A167A		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	167	Extracellular (Potential).					integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TCCAGCCACTCGCCATGGTGT	0.423													T	228228629	C	T	228228629	2	4	195	1	0	0	0	0	0	0	0	1	15966	871	31	1		1	TM4SF20	2	228228629	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	16681	228228629	14970744	277	107381											
PID1	55022	broad.mit.edu	37	chr2	229890462	229890462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggcctccatcatggcGtgggccagtttcttggcctc	12	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:229890462G>A	uc002vpr.3	-	3	677	c.639C>T	c.(637-639)CAC>CAT	p.H213H	PID1_uc002vps.3_Silent_p.H211H|PID1_uc002vpt.3_Silent_p.H180H|PID1_uc002vpu.3_Silent_p.H131H	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	213	PID.					cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCATCATGGCGTGGGCCAGTT	0.567													A	229890462	G	A	229890462	2	1	195	1	0	0	0	0	0	0	0	1	11882	1136	40	1		1	PID1	2	229890462	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1661833	229890462	13308911	278	107382											
PID1	55022	broad.mit.edu	37	chr2	230020592	230020592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgtgcacagctcaatgGcctccggctcatggaagatg	13	11	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:230020592G>A	uc002vpr.3	-	2	256	c.218C>T	c.(217-219)GCC>GTC	p.A73V	PID1_uc002vps.3_Missense_Mutation_p.A71V|PID1_uc002vpt.3_Missense_Mutation_p.A40V|PID1_uc002vpu.3_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	73						cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAGCTCAATGGCCTCCGGCTC	0.517													A	230020592	G	A	230020592	3	1	195	1	0	0	0	0	1	0	0	0	11882	1203	42	2	542	2	PID1	2	230020592	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	130130	230020592	13178781	279	107383											
SP100	6672	broad.mit.edu	37	chr2	231313824	231313824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactggtgaaaactcttttcGaagcctgacttggccacctt	8	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:231313824G>A	uc002vqt.2	+	6	686	c.545G>A	c.(544-546)CGA>CAA	p.R182Q	SP100_uc002vqs.2_Missense_Mutation_p.R182Q|SP100_uc002vqu.1_Missense_Mutation_p.R182Q|SP100_uc010zmb.1_Missense_Mutation_p.R182Q|SP100_uc002vqq.1_Missense_Mutation_p.R182Q|SP100_uc002vqr.1_Missense_Mutation_p.R157Q|SP100_uc010zmc.1_Missense_Mutation_p.R157Q|SP100_uc002vqv.1_Missense_Mutation_p.R146Q	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	182					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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		AACTCTTTTCGAAGCCTGACT	0.448													A	231313824	G	A	231313824	3	1	195	1	0	0	0	0	1	0	0	0	14960	1058	37	1	567	1	SP100	2	231313824	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1293232	231313824	11885549	280	107384											
B3GNT7	93010	broad.mit.edu	37	chr2	232263030	232263030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctacgaagaccgcctctaCggcgacatcctgcagtgggg	13	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:232263030C>T	uc002vrs.2	+	2	780	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	200	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		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)		ACCGCCTCTACGGCGACATCC	0.637													T	232263030	C	T	232263030	2	4	195	1	0	0	0	0	0	0	0	1	1262	547	19	1		1	B3GNT7	2	232263030	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	949206	232263030	10936343	281	107385											
AGAP1	116987	broad.mit.edu	37	chr2	236649677	236649677	+	Frame_Shift_Del	DEL	C	C	-													ctgatcagagatgaagggggCcccccggaggcgcaggtgag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:236649676_236649676GC>G	uc002vvs.3	+	3	978	c.380_380GC>G	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(1)		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						GATGAAGGGGGCCCCCCGGAG	0.488													-	236649677	C	-	236649677	7	5	195	1	0	1	0	1	0	0	0	0	366	726	26	0	395	0	AGAP1	2	236649677	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	4386647	236649677	6549696	282	107386											
GBX2	2637	broad.mit.edu	37	chr2	237074908	237074908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcggcgccgctgctcggCggggtctcctccagcgcgtg	16	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:237074908C>T	uc002vvw.1	-	2	734	c.696G>A	c.(694-696)CCG>CCA	p.P232P	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	232				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGCTGCTCGGCGGGGTCTCCT	0.667													T	237074908	C	T	237074908	2	4	195	1	0	0	0	0	0	0	0	1	6281	755	27	1		1	GBX2	2	237074908	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	425231	237074908	6124465	283	107387											
COL6A3	1293	broad.mit.edu	37	chr2	238253469	238253469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctagttctgttgggaagaCggggcactccaggggccctg	17	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:238253469C>T	uc002vwl.2	-	36	7477	c.7192G>A	c.(7192-7194)GTC>ATC	p.V2398I	COL6A3_uc002vwo.2_Missense_Mutation_p.V2192I|COL6A3_uc010znj.1_Missense_Mutation_p.V1791I|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.V219I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2398	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		GTTGGGAAGACGGGGCACTCC	0.498													T	238253469	C	T	238253469	3	4	195	1	0	0	0	0	1	0	0	0	3701	536	19	1	2377	1	COL6A3	2	238253469	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1178561	238253469	4945904	284	107388											
COL6A3	1293	broad.mit.edu	37	chr2	238277420	238277420	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaatgcccgaggaacggatCacctgggcgaacctggacac	12	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:238277420C>A	uc002vwl.2	-	10	4971	c.4686G>T	c.(4684-4686)GTG>GTT	p.V1562V	COL6A3_uc002vwo.2_Silent_p.V1356V|COL6A3_uc010znj.1_Silent_p.V955V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1562	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		AGGAACGGATCACCTGGGCGA	0.572													A	238277420	C	A	238277420	2	1	195	1	0	0	0	0	0	0	0	1	3701	813	29	5		5	COL6A3	2	238277420	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	23951	238277420	4921953	285	107389											
PER2	8864	broad.mit.edu	37	chr2	239167156	239167156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgatgacgctgtccaagCagctgatctgctggtaggag	13	10	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:239167156C>A	uc002vyc.2	-	15	1994	c.1757G>T	c.(1756-1758)TGC>TTC	p.C586F	PER2_uc010znv.1_Missense_Mutation_p.C586F	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	586	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		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)		GCTGTCCAAGCAGCTGATCTG	0.582													A	239167156	C	A	239167156	3	1	195	1	0	0	0	0	1	0	0	0	11730	710	25	5	2046	5	PER2	2	239167156	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	889736	239167156	4032217	286	107390											
HDLBP	3069	broad.mit.edu	37	chr2	242194469	242194469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaacgtgtccttaccttTggcatctgctgagtgatttt	9	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr2:242194469T>C	uc002waz.2	-	9	1413	c.1185A>G	c.(1183-1185)CCA>CCG	p.P395P	HDLBP_uc002wba.2_Silent_p.P395P|HDLBP_uc002wbb.2_Silent_p.P347P|HDLBP_uc010fzn.1_Silent_p.P124P	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	395	KH 4.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		TCCTTACCTTTGGCATCTGCT	0.463													C	242194469	T	C	242194469	2	2	195	1	0	0	0	0	0	0	0	1	7025	1799	63	3		3	HDLBP	2	242194469	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3027313	242194469	1004904	287	107391											
CHL1	10752	broad.mit.edu	37	chr3	439979	439979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatagaggtatttgagcCgggagctgaacatatagttc	11	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:439979C>T	uc003bou.2	+	24	3387	c.3116C>T	c.(3115-3117)CCG>CTG	p.P1039L	CHL1_uc003bot.2_Missense_Mutation_p.P1055L|CHL1_uc003bow.1_Missense_Mutation_p.P1039L|CHL1_uc011asi.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1039	Extracellular (Potential).	Cleavage; by ADAM8 (By similarity).			axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		GTATTTGAGCCGGGAGCTGAA	0.383													T	439979	C	T	439979	3	4	195	1	0	0	0	0	1	0	0	0	3349	652	23	1	3254	1	CHL1	3	439979	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08		439979	197582451	288	107392											
ARPC4	10093	broad.mit.edu	37	chr3	9839372	9839372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcccctacctgagtgcCgtgcgggccacattgcaggc	12	17	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:9839372C>T	uc003bsz.1	+	2	612	c.33C>T	c.(31-33)GCC>GCT	p.A11A	ARPC4_uc003bta.1_5'UTR|ARPC4_uc003btb.1_5'UTR|ARPC4_uc003btc.1_5'UTR|TTLL3_uc003btd.3_5'UTR	NM_005718	NP_005709	P59998	ARPC4_HUMAN	actin related protein 2/3 complex subunit 4	11					actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding				0	Medulloblastoma(99;0.227)					ACCTGAGTGCCGTGCGGGCCA	0.552													T	9839372	C	T	9839372	2	4	195	1	0	0	0	0	0	0	0	1	973	639	23	1		1	ARPC4	3	9839372	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	9399393	9839372	188183058	289	107393											
TTLL3	26140	broad.mit.edu	37	chr3	9859428	9859429	+	Frame_Shift_Ins	INS	-	-	A													cctgggggctgaggatgacaINSaaaaagccttcataggtaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:9859427_9859428C>CA	uc003btg.3	+	4	890_891	c.414_415C>CA	c.(412-417)gacaaafs	p.D138fs	TTLL3_uc003btd.4_Frame_Shift_Ins_p.D232fs|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_5'UTR|TTLL3_uc010hco.1_Frame_Shift_Ins_p.D74fs|TTLL3_uc003bth.4_5'UTR|TTLL3_uc011atj.2_Frame_Shift_Ins_p.D74fs|TTLL3_uc003btj.4_5'UTR|TTLL3_uc003bti.4_5'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	138					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)					CTGAGGATGACAAAAAAGCCTT	0.54													A	9859429	-	A	9859428	7	5	195	1	0	1	1	0	0	0	0	0	16725	131	5	0	429	0	TTLL3	3	9859428	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	20056	9859428	188163002	290	107394											
LOC401052	401052	broad.mit.edu	37	chr3	10049076	10049077	+	Frame_Shift_Del	DEL	TG	TG	-													tgaagccctgggaaccagacTgtgctggggtcagtggcggg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:10049075_10049076CTG>C	uc003bur.1	-	3	923_924	c.309_310CAG>G	c.(307-312)acagtcfs	p.T103fs	CIDEC_uc003bto.3_Intron	NM_001008737	NP_001008737	B3KMQ7	B3KMQ7_HUMAN	Homo sapiens uncharacterized LOC401052 (LOC401052), mRNA.	103										lung(1)|stomach(1)	2						GGGAACCAGACTGTGCTGGGGT	0.594													-	10049077	TG	-	10049076	7	5	195	1	0	1	0	1	0	0	0	0	8877	1567	55	0	51	0	LOC401052	3	10049076	Frame_Shift_Del	DEL	TG	TCGA-CG-5728-01A-11D-1600-08	189648	10049076	187973354	291	107395											
PPARG	5468	broad.mit.edu	37	chr3	12421297	12421297	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggaagaccactcccactcCtttgatatcaagcccttcac	5	15	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:12421297C>A	uc003bwx.2	+	2	268	c.177C>A	c.(175-177)TCC>TCA	p.S59S	PPARG_uc003bwr.2_Silent_p.S31S|PPARG_uc003bws.2_Silent_p.S31S|PPARG_uc003bwu.2_Silent_p.S31S|PPARG_uc003bwv.2_Silent_p.S31S|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.S31S|PPARG_uc010hdz.1_RNA|PPARG_uc003bwt.1_Silent_p.S31S|PPARG_uc003bww.1_Silent_p.S59S	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	59					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			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ACTCCCACTCCTTTGATATCA	0.463			T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						A	12421297	C	A	12421297	2	1	195	1	0	0	0	0	0	0	0	1	12299	668	24	5		5	PPARG	3	12421297	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2372221	12421297	185601133	292	107396											
CAND2	23066	broad.mit.edu	37	chr3	12856772	12856772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcaccctggcacctgTgctcatccgccgcttcaaag	8	18	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:12856772T>C	uc003bxk.2	+	8	1188	c.1139T>C	c.(1138-1140)GTG>GCG	p.V380A	CAND2_uc003bxj.2_Missense_Mutation_p.V287A	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	380	HEAT 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CTGGCACCTGTGCTCATCCGC	0.617													C	12856772	T	C	12856772	3	2	195	1	0	0	0	0	1	0	0	0	2616	1696	59	3	1169	3	CAND2	3	12856772	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	435475	12856772	185165658	293	107397											
TBC1D5	9779	broad.mit.edu	37	chr3	17255753	17255753	+	Frame_Shift_Del	DEL	A	A	-													cgagaacgtgagatgttgctAaaaaaggaatcttttttagt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:17255752_17255752TA>T	uc010hev.3	-	19	2029	c.1765_1765TA>A	c.(1765-1767)agcfs	p.S589fs	TBC1D5_uc010heu.3_Frame_Shift_Del_p.S154fs|TBC1D5_uc003cbf.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc003cbe.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc010hew.1_Frame_Shift_Del_p.S541fs	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	567						intracellular	Rab GTPase activator activity|protein binding			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						GAGATGTTGCTAAAAAAGGAA	0.393													-	17255753	A	-	17255753	7	5	195	1	0	1	0	1	0	0	0	0	15620	359	13	0	709	0	TBC1D5	3	17255753	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4398981	17255753	180766677	294	107398											
KCNH8	131096	broad.mit.edu	37	chr3	19575324	19575324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccacattcagattctacGttgacgcctctgcagtccat	6	14	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:19575324G>A	uc003cbk.1	+	16	3252	c.3057G>A	c.(3055-3057)ACG>ACA	p.T1019T	KCNH8_uc010hex.1_Silent_p.T480T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	1019	Ser-rich.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CAGATTCTACGTTGACGCCTC	0.458													A	19575324	G	A	19575324	2	1	195	1	0	0	0	0	0	0	0	1	8038	1132	40	1		1	KCNH8	3	19575324	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2319571	19575324	178447106	295	107399											
RARB	5915	broad.mit.edu	37	chr3	25502727	25502728	+	Frame_Shift_Ins	INS	-	-	C													ctgaggaactcgtcccaagcINScccccatctccacttcctcc					rs149883315		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:25502726_25502727G>GC	uc011awl.2	+	1	287_288	c.221_222G>GC	c.(220-222)agcfs	p.S74fs	RARB_uc003cdi.2_5'UTR|RARB_uc003cdh.3_Frame_Shift_Ins_p.S67fs	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	74	Modulating.				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)	CTCGTCCCAAGCCCCCCATCTC	0.49													C	25502728	-	C	25502727	7	5	195	1	0	1	1	0	0	0	0	0	13053	738	26	0	207	0	RARB	3	25502727	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	5927403	25502727	172519703	296	107400											
TOP2B	7155	broad.mit.edu	37	chr3	25650830	25650830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggtgtttttctcactcTggtacctaaagcaaaagaat	8	7	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:25650830T>C	uc003cdj.2	-	30	3922	c.3922A>G	c.(3922-3924)AGA>GGA	p.R1308G	TOP2B_uc011awm.1_Missense_Mutation_p.R165G|TOP2B_uc010hff.1_Missense_Mutation_p.R174G	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1313					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)|ovary(1)|lung(1)|skin(1)	5						TTTCTCACTCTGGTACCTAAA	0.308													C	25650830	T	C	25650830	3	2	195	1	0	0	0	0	1	0	0	0	16363	1588	55	3	971	3	TOP2B	3	25650830	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	148103	25650830	172371600	297	107401											
TOP2B	7155	broad.mit.edu	37	chr3	25668765	25668765	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatattcctttgcttcTttagctgtactagtacccaa	5	10	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:25668765T>A	uc011awn.1	-	16	1972	c.1929A>T	c.(1927-1929)AAA>AAT	p.K643N	TOP2B_uc003cdj.2_Missense_Mutation_p.K638N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	643					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)|ovary(1)|lung(1)|skin(1)	5						CCTTTGCTTCTTTAGCTGTAC	0.338													A	25668765	T	A	25668765	3	1	195	1	0	0	0	0	1	0	0	0	16363	1606	56	5	3035	5	TOP2B	3	25668765	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	17935	25668765	172353665	298	107402											
RBMS3	27303	broad.mit.edu	37	chr3	29938929	29938929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattccacagacatctatcaCgccattcattgctgcttccc	5	15	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:29938929C>T	uc003cel.2	+	9	1081	c.851C>T	c.(850-852)ACG>ATG	p.T284M	RBMS3_uc003cek.2_Missense_Mutation_p.T284M|RBMS3_uc010hfq.2_Missense_Mutation_p.T297M|RBMS3_uc003cem.2_Missense_Mutation_p.T283M|RBMS3_uc010hfr.2_Missense_Mutation_p.T284M	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	284						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ACATCTATCACGCCATTCATT	0.418													T	29938929	C	T	29938929	3	4	195	1	0	0	0	0	1	0	0	0	13150	536	19	1	928	1	RBMS3	3	29938929	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4270164	29938929	168083501	299	107403											
TRIM71	131405	broad.mit.edu	37	chr3	32932817	32932817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacccttgggatgtggcGgtgaattctgagggcaagat	14	7	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:32932817G>A	uc003cff.2	+	4	2184	c.2121G>A	c.(2119-2121)GCG>GCA	p.A707A		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	707	NHL 3.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GGGATGTGGCGGTGAATTCTG	0.522													A	32932817	G	A	32932817	2	1	195	1	0	0	0	0	0	0	0	1	16541	1103	39	1		1	TRIM71	3	32932817	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2993888	32932817	165089613	300	107404											
CLASP2	23122	broad.mit.edu	37	chr3	33543196	33543196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagttcatcaccaattaccGcatgaacagccaccaggcag	7	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:33543196G>A	uc003cfu.2	-	37	4736	c.4382C>T	c.(4381-4383)GCG>GTG	p.A1461V	CLASP2_uc003cfs.2_Missense_Mutation_p.A668V|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	1470										ovary(3)|central_nervous_system(1)	4						ACCAATTACCGCATGAACAGC	0.438													A	33543196	G	A	33543196	3	1	195	1	0	0	0	0	1	0	0	0	3455	1087	38	1	146	1	CLASP2	3	33543196	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	610379	33543196	164479234	301	107405											
CLASP2	23122	broad.mit.edu	37	chr3	33729800	33729800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaataagacacagacacaCgccttctcgagatcgaaaat	6	11	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:33729800C>T	uc003cfu.2	-	4	793	c.439G>A	c.(439-441)GTG>ATG	p.V147M	CLASP2_uc010hgb.2_RNA	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	147										ovary(3)|central_nervous_system(1)	4						CACAGACACACGCCTTCTCGA	0.303													T	33729800	C	T	33729800	3	4	195	1	0	0	0	0	1	0	0	0	3455	536	19	1	4221	1	CLASP2	3	33729800	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	186604	33729800	164292630	302	107406											
TRANK1	9881	broad.mit.edu	37	chr3	36874710	36874710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaatacttggcatccaCctgggaaatcccaaaaaact	7	12	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:36874710C>T	uc003cgj.2	-	12	4884	c.4582G>A	c.(4582-4584)GTG>ATG	p.V1528M		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2078					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TTGGCATCCACCTGGGAAATC	0.418													T	36874710	C	T	36874710	3	4	195	1	0	0	0	0	1	0	0	0	16451	507	18	4	2557	4	TRANK1	3	36874710	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3144910	36874710	161147720	303	107407											
TRANK1	9881	broad.mit.edu	37	chr3	36897192	36897192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcagtgcagggttgtAggcagtcctccctttggtca	11	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:36897192A>G	uc003cgj.2	-	3	2541	c.2239T>C	c.(2239-2241)TAC>CAC	p.Y747H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1297					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GCAGGGTTGTAGGCAGTCCTC	0.453													G	36897192	A	G	36897192	3	3	195	1	0	0	0	0	1	0	0	0	16451	420	15	3	4936	3	TRANK1	3	36897192	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	22482	36897192	161125238	304	107408											
LRRFIP2	9209	broad.mit.edu	37	chr3	37162993	37162993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataccaaccctgtgactgCcaacacttcgaatggacaat	6	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:37162993C>T	uc003cgp.2	-	7	743	c.320G>A	c.(319-321)GGC>GAC	p.G107D	LRRFIP2_uc011ayf.1_Missense_Mutation_p.G90D|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	107	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						CCTGTGACTGCCAACACTTCG	0.358													T	37162993	C	T	37162993	3	4	195	1	0	0	0	0	1	0	0	0	9028	739	26	2	1937	2	LRRFIP2	3	37162993	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	265801	37162993	160859437	305	107409											
GOLGA4	2803	broad.mit.edu	37	chr3	37292888	37292888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatttttaaatctaggcGtcctccaattcttcaacacc	3	11	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:37292888G>A	uc003cgv.2	+	2	379	c.75G>A	c.(73-75)GCG>GCA	p.A25A	GOLGA4_uc010hgr.1_Silent_p.A25A|GOLGA4_uc003cgw.2_Silent_p.A25A|GOLGA4_uc010hgs.2_Silent_p.A25A|GOLGA4_uc003cgu.1_Silent_p.A25A	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	25					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						AAATCTAGGCGTCCTCCAATT	0.388													A	37292888	G	A	37292888	2	1	195	1	0	0	0	0	0	0	0	1	6555	1132	40	1		1	GOLGA4	3	37292888	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	129895	37292888	160729542	306	107410											
VILL	50853	broad.mit.edu	37	chr3	38037234	38037234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctattcccacctcagctacAggaagggaggcctagcatct	10	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:38037234A>G	uc003chj.2	+	5	632	c.346A>G	c.(346-348)AGG>GGG	p.R116G	VILL_uc003chk.1_Missense_Mutation_p.R116G|VILL_uc003chl.2_Missense_Mutation_p.R116G|VILL_uc010hgu.2_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	116					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTCAGCTACAGGAAGGGAGG	0.507													G	38037234	A	G	38037234	3	3	195	1	0	0	0	0	1	0	0	0	17162	179	7	3	360	3	VILL	3	38037234	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	744346	38037234	159985196	307	107411											
SCN5A	6331	broad.mit.edu	37	chr3	38601896	38601896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgatggacgggatggcGcccaccagggcattgaccac	13	12	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:38601896G>A	uc003cio.2	-	23	4181	c.3987C>T	c.(3985-3987)GGC>GGT	p.G1329G	SCN5A_uc003cin.2_Silent_p.G1328G|SCN5A_uc003cil.3_Silent_p.G1329G|SCN5A_uc010hhi.2_Silent_p.G1329G|SCN5A_uc010hhk.2_Silent_p.G1328G|SCN5A_uc011ayr.1_Silent_p.G1275G|SCN5A_uc010hhj.1_Silent_p.G939G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1329					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	ACGGGATGGCGCCCACCAGGG	0.592													A	38601896	G	A	38601896	2	1	195	1	0	0	0	0	0	0	0	1	13922	1074	38	1		1	SCN5A	3	38601896	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	564662	38601896	159420534	308	107412											
SCN5A	6331	broad.mit.edu	37	chr3	38608015	38608015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatgtgaacatcttgtcgGcatactcaagcagaaccttg	8	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:38608015G>A	uc003cio.2	-	21	3919	c.3725C>T	c.(3724-3726)GCC>GTC	p.A1242V	SCN5A_uc003cin.2_Missense_Mutation_p.A1241V|SCN5A_uc003cil.3_Missense_Mutation_p.A1242V|SCN5A_uc010hhi.2_Missense_Mutation_p.A1242V|SCN5A_uc010hhk.2_Missense_Mutation_p.A1241V|SCN5A_uc011ayr.1_Missense_Mutation_p.A1188V|SCN5A_uc010hhj.1_Missense_Mutation_p.A852V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1242	Helical; Name=S2 of repeat III; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CATCTTGTCGGCATACTCAAG	0.537													A	38608015	G	A	38608015	3	1	195	1	0	0	0	0	1	0	0	0	13922	1203	42	2	2357	2	SCN5A	3	38608015	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6119	38608015	159414415	309	107413											
SCN5A	6331	broad.mit.edu	37	chr3	38620974	38620974	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggccaccggacacagGctgggattcctgctgaaaag	13	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:38620974G>C	uc003cio.2	-	18	3435	c.3241C>G	c.(3241-3243)CCT>GCT	p.P1081A	SCN5A_uc003cin.2_Missense_Mutation_p.P1080A|SCN5A_uc003cil.3_Missense_Mutation_p.P1081A|SCN5A_uc010hhi.2_Missense_Mutation_p.P1081A|SCN5A_uc010hhk.2_Missense_Mutation_p.P1080A|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhj.1_Missense_Mutation_p.P691A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1081					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CCGGACACAGGCTGGGATTCC	0.657													C	38620974	G	C	38620974	3	2	195	1	0	0	0	0	1	0	0	0	13922	1203	42	5	2853	5	SCN5A	3	38620974	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	12959	38620974	159401456	310	107414											
SCN5A	6331	broad.mit.edu	37	chr3	38639229	38639229	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcccttaccaggtttccGacctgcagcatctcctcgaa	8	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:38639229G>A	uc003cio.2	-	14	2447	c.2253C>T	c.(2251-2253)GTC>GTT	p.V751V	SCN5A_uc003cin.2_Silent_p.V751V|SCN5A_uc003cil.3_Silent_p.V751V|SCN5A_uc010hhi.2_Silent_p.V751V|SCN5A_uc010hhk.2_Silent_p.V751V|SCN5A_uc011ayr.1_Silent_p.V751V|SCN5A_uc010hhj.1_Silent_p.V362V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	751	Helical; Name=S2 of repeat II; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CCAGGTTTCCGACCTGCAGCA	0.547													A	38639229	G	A	38639229	2	1	195	1	0	0	0	0	0	0	0	1	13922	1045	37	1		1	SCN5A	3	38639229	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	18255	38639229	159383201	311	107415											
SCN10A	6336	broad.mit.edu	37	chr3	38739639	38739639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacggctgggctcccacagTcccctctggtgccattgctg	11	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:38739639T>C	uc003ciq.2	-	27	5072	c.5072A>G	c.(5071-5073)GAC>GGC	p.D1691G		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1691	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	GCTCCCACAGTCCCCTCTGGT	0.572													C	38739639	T	C	38739639	3	2	195	1	0	0	0	0	1	0	0	0	13912	1667	58	3	802	3	SCN10A	3	38739639	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	100410	38739639	159282791	312	107416											
CX3CR1	1524	broad.mit.edu	37	chr3	39307753	39307753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgagtccagaagggcaaaGtggctacaaacagcagatca	12	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:39307753G>A	uc003cjl.2	-	2	340	c.248C>T	c.(247-249)ACT>ATT	p.T83I		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	83	Helical; Name=2; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GAAGGGCAAAGTGGCTACAAA	0.473													A	39307753	G	A	39307753	3	1	195	1	0	0	0	0	1	0	0	0	4075	1029	36	4	823	4	CX3CR1	3	39307753	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	568114	39307753	158714677	313	107417											
MYRIP	25924	broad.mit.edu	37	chr3	40251387	40251387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagacatcagcaatgaggctCgggatccccagactctcaca	9	14	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:40251387C>T	uc003cka.2	+	11	1843	c.1708C>T	c.(1708-1710)CGG>TGG	p.R570W	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.R570W|MYRIP_uc010hhw.2_Missense_Mutation_p.R481W|MYRIP_uc011ayz.1_Missense_Mutation_p.R383W|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	570	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAATGAGGCTCGGGATCCCCA	0.478													T	40251387	C	T	40251387	3	4	195	1	0	0	0	0	1	0	0	0	10100	875	31	1	1746	1	MYRIP	3	40251387	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	943634	40251387	157771043	314	107418											
HHATL	57467	broad.mit.edu	37	chr3	42740589	42740589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagggcaaagatgatgaCgttgcgaaaggaggtgaacc	17	5	0	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:42740589C>T	uc003clw.2	-	5	370	c.223G>A	c.(223-225)GTC>ATC	p.V75I	HHATL_uc003clx.2_Missense_Mutation_p.V75I	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	75	Helical; (Potential).				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AAGATGATGACGTTGCGAAAG	0.612													T	42740589	C	T	42740589	3	4	195	1	0	0	0	0	1	0	0	0	7090	536	19	1	1327	1	HHATL	3	42740589	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2489202	42740589	155281841	315	107419											
ZNF167	55888	broad.mit.edu	37	chr3	44612251	44612251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccacactggggagaagcCttatgagtgtagtgaatgtg	13	6	0	3	rs145479931	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:44612251C>A	uc010hin.2	+	6	2037	c.1649C>A	c.(1648-1650)CCT>CAT	p.P550H	ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.P550H|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	550					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GGGGAGAAGCCTTATGAGTGT	0.433													A	44612251	C	A	44612251	3	1	195	1	0	0	0	0	1	0	0	0	17738	681	24	5	1667	5	ZNF167	3	44612251	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1871662	44612251	153410179	316	107420											
FYCO1	79443	broad.mit.edu	37	chr3	46008705	46008705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagctgctgacactcGccctccttgctctgtagaat	8	16	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:46008705G>A	uc003cpb.3	-	8	2327	c.2121C>T	c.(2119-2121)GGC>GGT	p.G707G	FYCO1_uc011bal.1_Silent_p.G707G	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	707	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGACACTCGCCCTCCTTGC	0.612													A	46008705	G	A	46008705	2	1	195	1	0	0	0	0	0	0	0	1	6125	1074	38	1		1	FYCO1	3	46008705	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1396454	46008705	152013725	317	107421											
LTF	4057	broad.mit.edu	37	chr3	46482949	46482949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctttcacaaatgcaaCgtctccagcattctcagcca	5	14	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:46482949C>T	uc003cpq.2	-	14	1719	c.1681G>A	c.(1681-1683)GTT>ATT	p.V561I	LTF_uc003fzr.2_Missense_Mutation_p.V517I|LTF_uc010hjh.2_Missense_Mutation_p.V559I|LTF_uc003cpr.2_Missense_Mutation_p.V548I	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	561	Transferrin-like 2.				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			central_nervous_system(2)|ovary(1)|lung(1)	4				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)	ACAAATGCAACGTCTCCAGCA	0.393													T	46482949	C	T	46482949	3	4	195	1	0	0	0	0	1	0	0	0	9079	536	19	1	467	1	LTF	3	46482949	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	474244	46482949	151539481	318	107422											
SCAP	22937	broad.mit.edu	37	chr3	47462130	47462130	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggtttcggaaggaagAcggctgcaacgtgatggtgt	16	8	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:47462130A>T	uc003crh.1	-	12	1732	c.1477T>A	c.(1477-1479)TCT>ACT	p.S493T	SCAP_uc011baz.1_Missense_Mutation_p.S238T|SCAP_uc003crg.2_Missense_Mutation_p.S101T	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	493	Cytoplasmic (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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGAAGGAAGACGGCTGCAAC	0.667											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47462130	A	T	47462130	3	4	195	1	0	0	0	0	1	0	0	0	13877	275	10	5	2410	5	SCAP	3	47462130	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	979181	47462130	150560300	319	107423											
SCAP	22937	broad.mit.edu	37	chr3	47467488	47467488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgccatgaacctacgCgtggagaagtagatgtaggc	12	11	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:47467488C>T	uc003crh.1	-	7	1164	c.909G>A	c.(907-909)ACG>ACA	p.T303T	SCAP_uc011baz.1_Silent_p.T48T|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	303	Cytoplasmic (By similarity).|SSD.				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGAACCTACGCGTGGAGAAGT	0.557													T	47467488	C	T	47467488	2	4	195	1	0	0	0	0	0	0	0	1	13877	782	27	1		1	SCAP	3	47467488	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5358	47467488	150554942	320	107424											
CSPG5	10675	broad.mit.edu	37	chr3	47619165	47619165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggcctgggcatcgccGctgcccgcctctgcggtcac	15	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:47619165G>A	uc003crp.3	-	2	527	c.351C>T	c.(349-351)AGC>AGT	p.S117S	CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Silent_p.S117S|CSPG5_uc011bbb.1_5'UTR	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	117	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGCATCGCCGCTGCCCGCCT	0.692													A	47619165	G	A	47619165	2	1	195	1	0	0	0	0	0	0	0	1	3961	1078	38	1		1	CSPG5	3	47619165	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	151677	47619165	150403265	321	107425											
CELSR3	1951	broad.mit.edu	37	chr3	48689915	48689915	+	Frame_Shift_Del	DEL	G	G	-													ggagcctcctctgcactgccGgggggcaggcctcccacgtg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:48689914_48689914CG>C	uc003cuf.1	-	12	5917	c.5917_5917CG>G	c.(5917-5919)ggcfs	p.G1973fs	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Frame_Shift_Del_p.G1903fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1903	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		TCTGCACTGCCGGGGGGCAGG	0.627													-	48689915	G	-	48689915	7	5	195	1	0	1	0	1	0	0	0	0	3223	1103	39	0	4332	0	CELSR3	3	48689915	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	1070750	48689915	149332515	322	107426											
CELSR3	1951	broad.mit.edu	37	chr3	48698284	48698284	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgccagtgaggctgtcgAtggcaaagtgtccacggcta	13	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:48698284A>G	uc003cul.2	-	1	2065	c.1784T>C	c.(1783-1785)ATC>ACC	p.I595T	CELSR3_uc003cuf.1_Missense_Mutation_p.I665T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	595	Extracellular (Potential).|Cadherin 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			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGCTGTCGATGGCAAAGTG	0.607													G	48698284	A	G	48698284	3	3	195	1	0	0	0	0	1	0	0	0	3223	333	12	3	8294	3	CELSR3	3	48698284	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	8369	48698284	149324146	323	107427											
P4HTM	54681	broad.mit.edu	37	chr3	49042565	49042566	+	Frame_Shift_Ins	INS	-	-	T													gccctgcactgtgggcgtgcINScccttggcatggggccagga					rs150458516	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49042564_49042565G>GT	uc003cvh.3	+	5	1507_1508	c.1158_1159G>GT	c.(1156-1161)gtgcccfs	p.V386fs	P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	0	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion 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			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTGTGGGCGTGCCCCTTGGCAT	0.594													T	49042566	-	T	49042565	7	5	195	1	0	1	1	0	0	0	0	0	11360	739	26	0	1181	0	P4HTM	3	49042565	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	344281	49042565	148979865	324	107428											
CCDC71	64925	broad.mit.edu	37	chr3	49201445	49201445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatagacatcaccactgCgcaggatggtaggttggaag	13	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49201445C>T	uc003cwg.3	-	2	335	c.197G>A	c.(196-198)CGC>CAC	p.R66H		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	66										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATCACCACTGCGCAGGATGGT	0.557													T	49201445	C	T	49201445	3	4	195	1	0	0	0	0	1	0	0	0	2844	768	27	1	1210	1	CCDC71	3	49201445	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	158880	49201445	148820985	325	107429											
KLHDC8B	200942	broad.mit.edu	37	chr3	49212181	49212181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccattgacagggggccGccagggcaagctcccggtga	14	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49212181G>A	uc003cwh.2	+	4	733	c.548G>A	c.(547-549)CGC>CAC	p.R183H	KLHDC8B_uc003cwi.1_Missense_Mutation_p.R56H	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	183	Kelch 5.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACAGGGGGCCGCCAGGGCAAG	0.622													A	49212181	G	A	49212181	3	1	195	1	0	0	0	0	1	0	0	0	8363	1087	38	1	558	1	KLHDC8B	3	49212181	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	10736	49212181	148810249	326	107430											
USP4	7375	broad.mit.edu	37	chr3	49332009	49332009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacattccgagccatccaCggaagtgctgcagacctcgt	10	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49332009C>T	uc003cwq.2	-	14	1793	c.1714G>A	c.(1714-1716)GTG>ATG	p.V572M	USP4_uc003cwo.2_Missense_Mutation_p.V284M|USP4_uc003cwp.2_Missense_Mutation_p.V302M|USP4_uc003cwr.2_Missense_Mutation_p.V525M	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	572					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			ovary(2)|urinary_tract(1)|lung(1)	4		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)		GAGCCATCCACGGAAGTGCTG	0.532													T	49332009	C	T	49332009	3	4	195	1	0	0	0	0	1	0	0	0	17068	536	19	1	1213	1	USP4	3	49332009	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	119828	49332009	148690421	327	107431											
DAG1	1605	broad.mit.edu	37	chr3	49548116	49548116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagcttgaggcatccaTgcactcagtgctctcagacc	8	14	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49548116T>C	uc003cxc.3	+	2	567	c.149T>C	c.(148-150)ATG>ACG	p.M50T		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	50	Required for laminin recognition.|O-glycosylated at one site.				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGGCATCCATGCACTCAGTG	0.577													C	49548116	T	C	49548116	3	2	195	1	0	0	0	0	1	0	0	0	4225	1464	51	3	151	3	DAG1	3	49548116	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	216107	49548116	148474314	328	107432											
BSN	8927	broad.mit.edu	37	chr3	49694496	49694496	+	Frame_Shift_Del	DEL	C	C	-													cccagaatggccagtattggCccccccttacacatgcagcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49694495_49694495GC>G	uc003cxe.4	+	4	7620	c.7506_7506GC>G	c.(7504-7506)tggfs	p.W2502fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	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													-	49694496	C	-	49694496	7	5	195	1	0	1	0	1	0	0	0	0	1530	739	26	0	7525	0	BSN	3	49694496	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	146380	49694496	148327934	329	107433											
APEH	327	broad.mit.edu	37	chr3	49713595	49713595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagaccaaagccttggaCgtcagtgccagcgatgatga	11	10	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49713595C>T	uc003cxf.2	+	6	949	c.549C>T	c.(547-549)GAC>GAT	p.D183D	APEH_uc010hkw.1_Silent_p.D183D	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	183					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCCTTGGACGTCAGTGCCA	0.587													T	49713595	C	T	49713595	2	4	195	1	0	0	0	0	0	0	0	1	768	535	19	1		1	APEH	3	49713595	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	19099	49713595	148308835	330	107434											
MST1	4485	broad.mit.edu	37	chr3	49723549	49723549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagcaaaaggccgcgcGcatgccgggccgcagtgtga	16	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49723549G>A	uc003cxg.2	-	9	1165	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C	MST1_uc011bcs.1_Silent_p.C403C|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	351	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGCCGCGCGCATGCCGGGC	0.672													A	49723549	G	A	49723549	3	1	195	1	0	0	0	0	1	0	0	0	9890	1087	38	1	1124	1	MST1	3	49723549	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	9954	49723549	148298881	331	107435											
MST1R	4486	broad.mit.edu	37	chr3	49936356	49936356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgactgacatcccgctgcaCgggctgcccactgtcaccca	9	18	1	1	rs148258933		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:49936356C>T	uc003cxy.3	-	3	1756	c.1492G>A	c.(1492-1494)GTG>ATG	p.V498M	MST1R_uc011bdd.1_Missense_Mutation_p.V498M|MST1R_uc011bde.1_Missense_Mutation_p.V498M|MST1R_uc011bdf.1_Intron|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	498	Extracellular (Potential).|Sema.				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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCCCGCTGCACGGGCTGCCCA	0.592													T	49936356	C	T	49936356	3	4	195	1	0	0	0	0	1	0	0	0	9891	536	19	1	2782	1	MST1R	3	49936356	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	212807	49936356	148086074	332	107436											
RBM6	10180	broad.mit.edu	37	chr3	50005145	50005145	+	Frame_Shift_Del	DEL	G	G	-													gggacctggacatgatttcaGggggggagatttttcgtctt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:50005144_50005144AG>A	uc003cyc.3	+	2	534	c.286_286AG>A	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					RNA processing	nucleus	DNA binding|RNA binding|nucleotide 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)		ACATGATTTCAGGGGGGGAGA	0.498													-	50005145	G	-	50005145	7	5	195	1	0	1	0	1	0	0	0	0	13144	1000	35	0	293	0	RBM6	3	50005145	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	68789	50005145	148017285	333	107437											
RBM5	10181	broad.mit.edu	37	chr3	50155809	50155809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaggagccaaaggcagcGcatatggtttgtcgggcgcc	15	11	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:50155809G>A	uc003cyg.2	+	25	2516	c.2368G>A	c.(2368-2370)GCA>ACA	p.A790T	RBM5_uc011bdk.1_Missense_Mutation_p.A618T|RBM5_uc003cyh.2_Missense_Mutation_p.A247T|uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	790	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			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAAGGCAGCGCATATGGTTT	0.498													A	50155809	G	A	50155809	3	1	195	1	0	0	0	0	1	0	0	0	13143	1087	38	1	2462	1	RBM5	3	50155809	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	150664	50155809	147866621	334	107438											
VPRBP	9730	broad.mit.edu	37	chr3	51458110	51458110	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtttactgatgatctgccGgacagtgctactgcgagaca	11	10	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:51458110G>T	uc003dbe.1	-	14	2482	c.2314C>A	c.(2314-2316)CGG>AGG	p.R772R	VPRBP_uc003dbf.1_Silent_p.R48R	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	772					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATGATCTGCCGGACAGTGCTA	0.557													T	51458110	G	T	51458110	2	4	195	1	0	0	0	0	0	0	0	1	17182	1115	39	5		5	VPRBP	3	51458110	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1302301	51458110	146564320	335	107439											
STAB1	23166	broad.mit.edu	37	chr3	52551965	52551965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaggacatgtacctgCgacacagcccacaccgtggg	13	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:52551965C>T	uc003dej.2	+	45	4781	c.4707C>T	c.(4705-4707)TGC>TGT	p.C1569C	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1569	Extracellular (Potential).|EGF-like 13.				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		CATGTACCTGCGACACAGCCC	0.602													T	52551965	C	T	52551965	2	4	195	1	0	0	0	0	0	0	0	1	15236	776	27	1		1	STAB1	3	52551965	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1093855	52551965	145470465	336	107440											
PBRM1	55193	broad.mit.edu	37	chr3	52610623	52610623	+	Frame_Shift_Del	DEL	T	T	-													tacttcttttttgtagaacaTttttgtgggctcatgctctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:52610622_52610622AT>A	uc003des.2	-	21	3638	c.3626_3626AT>T	c.(3625-3627)atgfs	p.M1209fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.M1209fs|PBRM1_uc003der.2_Frame_Shift_Del_p.M1177fs|PBRM1_uc003det.2_Frame_Shift_Del_p.M1224fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.M1224fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.M1209fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.M1184fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.M1184fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.M1208fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1209	BAH 2.		Missing (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.M1209_E1214delMFYKKE(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)		TTTGTAGAACATTTTTGTGGG	0.383			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52610623	T	-	52610623	7	5	195	1	0	1	0	1	0	0	0	0	11491	1493	52	0	1311	0	PBRM1	3	52610623	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	58658	52610623	145411807	337	107441											
PDHB	5162	broad.mit.edu	37	chr3	58414314	58414314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctatggtttccatgtccaTtggtctaatggtacgcatat	8	8	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:58414314T>C	uc003dkf.3	-	9	849	c.820A>G	c.(820-822)ATG>GTG	p.M274V	PDHB_uc003dke.3_Missense_Mutation_p.M232V|PDHB_uc003dkg.3_Missense_Mutation_p.M256V|PDHB_uc010hnl.2_Missense_Mutation_p.M256V|PDHB_uc011bff.1_Missense_Mutation_p.M256V	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	274					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				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)	TCCATGTCCATTGGTCTAATG	0.408													C	58414314	T	C	58414314	3	2	195	1	0	0	0	0	1	0	0	0	11666	1493	52	3	267	3	PDHB	3	58414314	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	5803691	58414314	139608116	338	107442											
PTPRG	5793	broad.mit.edu	37	chr3	62189498	62189498	+	Frame_Shift_Del	DEL	C	C	-													tggtcacctccacccaagtgCcccccaccgccacagaggag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:62189497_62189497GC>G	uc003dlb.3	+	11	2747	c.2028_2028GC>G	c.(2026-2028)gtgfs	p.V676fs	PTPRG_uc003dlc.3_Frame_Shift_Del_p.V676fs	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	676					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)		CCACCCAAGTGCCCCCCACCG	0.627													-	62189498	C	-	62189498	7	5	195	1	0	1	0	1	0	0	0	0	12802	739	26	0	2075	0	PTPRG	3	62189498	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	3775184	62189498	135832932	339	107443											
CADPS	8618	broad.mit.edu	37	chr3	62423862	62423862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggacgaaagtcacgtaggCgtcggccacgtccatcccgg	14	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:62423862C>T	uc003dll.2	-	28	4054	c.3694G>A	c.(3694-3696)GCC>ACC	p.A1232T	CADPS_uc003dlj.1_Missense_Mutation_p.A187T|CADPS_uc003dlk.1_Missense_Mutation_p.A680T|CADPS_uc003dlm.2_Missense_Mutation_p.A1193T|CADPS_uc003dln.2_Missense_Mutation_p.A1153T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1232	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		GTCACGTAGGCGTCGGCCACG	0.443													T	62423862	C	T	62423862	3	4	195	1	0	0	0	0	1	0	0	0	2570	768	27	1	379	1	CADPS	3	62423862	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	234364	62423862	135598568	340	107444											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133159	64133159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccaattttggcactgCgccgggactccttggccctg	11	14	1	0	rs147289291	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:64133159C>T	uc003dmf.2	-	7	1593	c.1007G>A	c.(1006-1008)CGC>CAC	p.R336H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	336						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		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)		TTTGGCACTGCGCCGGGACTC	0.587													T	64133159	C	T	64133159	3	4	195	1	0	0	0	0	1	0	0	0	12487	768	27	1	1535	1	PRICKLE2	3	64133159	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1709297	64133159	133889271	341	107445											
ADAMTS9	56999	broad.mit.edu	37	chr3	64592738	64592738	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcttagctggtatccctgTccacaagtgacactgcactg	9	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:64592738T>A	uc003dmg.2	-	23	3404	c.3372A>T	c.(3370-3372)GGA>GGT	p.G1124G	ADAMTS9_uc011bfo.1_Silent_p.G1096G|ADAMTS9_uc003dmh.1_Silent_p.G953G|ADAMTS9_uc011bfp.1_Silent_p.G35G	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1124	TSP type-1 6.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		GGTATCCCTGTCCACAAGTGA	0.428													A	64592738	T	A	64592738	2	1	195	1	0	0	0	0	0	0	0	1	273	1654	58	5		5	ADAMTS9	3	64592738	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	459579	64592738	133429692	342	107446											
EPHA3	2042	broad.mit.edu	37	chr3	89259309	89259309	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accattgcagctgatgaaagTttcactcaaatggatcttgg	9	8	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:89259309T>C	uc003dqy.2	+	3	678	c.453T>C	c.(451-453)AGT>AGC	p.S151S	EPHA3_uc003dqx.1_Silent_p.S151S|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	151	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		CTGATGAAAGTTTCACTCAAA	0.408										TSP Lung(6;0.00050)			C	89259309	T	C	89259309	2	2	195	1	0	0	0	0	0	0	0	1	5168	1722	60	3		3	EPHA3	3	89259309	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	24666571	89259309	108763121	343	107447											
ARL13B	200894	broad.mit.edu	37	chr3	93755447	93755447	+	Frame_Shift_Del	DEL	A	A	-													agaaaattgacaagtccattAaaaaaggcctttattggctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:93755446_93755446TA>T	uc003drc.3	+	4	822	c.537_537TA>T	c.(535-537)attfs	p.I179fs	ARL13B_uc010hop.3_Frame_Shift_Del_p.I30fs|ARL13B_uc003drf.3_Frame_Shift_Del_p.I179fs|ARL13B_uc003drg.3_Frame_Shift_Del_p.I76fs|ARL13B_uc003drd.3_Frame_Shift_Del_p.I72fs|ARL13B_uc003dre.3_Frame_Shift_Del_p.I164fs	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	179							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ACAAGTCCATTAAAAAAGGCC	0.378													-	93755447	A	-	93755447	7	5	195	1	0	1	0	1	0	0	0	0	929	363	13	0	556	0	ARL13B	3	93755447	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4496138	93755447	104266983	344	107448											
GABRR3	200959	broad.mit.edu	37	chr3	97711889	97711889	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatggtcagcactgtggtgAttcctgccatttgagaatag	11	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:97711889A>T	uc011bgr.1	-	8	911	c.911T>A	c.(910-912)ATC>AAC	p.I304N		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	304	Helical; (Potential).				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				0						CACTGTGGTGATTCCTGCCAT	0.502													T	97711889	A	T	97711889	3	4	195	1	0	0	0	0	1	0	0	0	6178	333	12	5	499	5	GABRR3	3	97711889	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	3956442	97711889	100310541	345	107449											
GPR15	2838	broad.mit.edu	37	chr3	98251024	98251024	+	Frame_Shift_Del	DEL	G	G	-													gtgttcctgactggagtgctGgggaaccttgttctcatggg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:98251023_98251023TG>T	uc011bgy.2	+	0	146	c.146_146TG>T	c.(145-147)ctgfs	p.L49fs		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	49						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)		ACTGGAGTGCTGGGGAACCTT	0.498													-	98251024	G	-	98251024	7	5	195	1	0	1	0	1	0	0	0	0	6655	1335	47	0	149	0	GPR15	3	98251024	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	539135	98251024	99771406	346	107450											
IMPG2	50939	broad.mit.edu	37	chr3	100964765	100964765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taacctctaaaacctctgggGaagagctgaggcccatcttc	9	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:100964765G>T	uc003duq.1	-	12	1627	c.1424C>A	c.(1423-1425)TCC>TAC	p.S475Y	IMPG2_uc011bhe.1_Missense_Mutation_p.S338Y	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	475	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AACCTCTGGGGAAGAGCTGAG	0.522													T	100964765	G	T	100964765	3	4	195	1	0	0	0	0	1	0	0	0	7729	1174	41	5	2333	5	IMPG2	3	100964765	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2713741	100964765	97057665	347	107451											
FAM55C	91775	broad.mit.edu	37	chr3	101520160	101520160	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtgacaggaattagcCgaaatccctactgtggctat	10	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:101520160C>T	uc003dvn.2	+	5	812	c.175C>T	c.(175-177)CGA>TGA	p.R59*	FAM55C_uc010hpn.2_Nonsense_Mutation_p.R59*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	59						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						AGGAATTAGCCGAAATCCCTA	0.527													T	101520160	C	T	101520160	4	4	195	1	0	0	0	0	0	1	0	0	5586	644	23	1	181	1	FAM55C	3	101520160	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	555395	101520160	96502270	348	107452											
FAM55C	91775	broad.mit.edu	37	chr3	101525973	101525973	+	Splice_Site	DEL	A	A	-													ttcccaggagaataaaaggtAaaaaaaagaataagcttgat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353													-	101525973	A	-	101525973	8	5	195	1	0	1	0	1	0	0	1	0	5586	377	13	0		0	FAM55C	3	101525973	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	5813	101525973	96496457	349	107453											
FAM55C	91775	broad.mit.edu	37	chr3	101540650	101540650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggacaccatccttcggaGgatgttctcaggggttggag	15	9	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:101540650G>A	uc003dvn.2	+	8	2169	c.1532G>A	c.(1531-1533)AGG>AAG	p.R511K	FAM55C_uc010hpn.2_Missense_Mutation_p.R511K	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	511						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						ATCCTTCGGAGGATGTTCTCA	0.542													A	101540650	G	A	101540650	3	1	195	1	0	0	0	0	1	0	0	0	5586	1000	35	4	1550	4	FAM55C	3	101540650	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	14677	101540650	96481780	350	107454											
KIAA1524	57650	broad.mit.edu	37	chr3	108301828	108301828	+	Frame_Shift_Del	DEL	A	A	-													gtgtgggtctgtatacctgcAaaaacaccgaatcagtgtgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:108301827_108301827CA>C	uc003dxb.4	-	2	623	c.354_354TG>G	c.(352-354)ttgfs	p.L118fs	KIAA1524_uc003dxc.1_5'UTR|KIAA1524_uc010hpw.1_5'UTR	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	118						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						TGTATACCTGCAAAAACACCG	0.408													-	108301828	A	-	108301828	7	5	195	1	0	1	0	1	0	0	0	0	8239	131	5	0	2440	0	KIAA1524	3	108301828	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	6761178	108301828	89720602	351	107455											
TMPRSS7	344805	broad.mit.edu	37	chr3	111766741	111766741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtccatccaaatcgaaGccgacaactgtgtcactgac	7	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:111766741G>A	uc010hqb.2	+	5	678	c.508G>A	c.(508-510)GCC>ACC	p.A170T	TMPRSS7_uc011bhr.1_Missense_Mutation_p.A25T	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	296	Extracellular (Potential).|CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						CCAAATCGAAGCCGACAACTG	0.522													A	111766741	G	A	111766741	3	1	195	1	0	0	0	0	1	0	0	0	16249	971	34	2	522	2	TMPRSS7	3	111766741	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3464913	111766741	86255689	352	107456											
KIAA2018	205717	broad.mit.edu	37	chr3	113375850	113375850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatttgttgctgcatctgcTgatggtggggatgtggctgg	17	6	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:113375850T>C	uc003eam.2	-	7	5090	c.4679A>G	c.(4678-4680)CAG>CGG	p.Q1560R	KIAA2018_uc003eal.2_Missense_Mutation_p.Q1504R	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1560	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						CTGCATCTGCTGATGGTGGGG	0.517													C	113375850	T	C	113375850	3	2	195	1	0	0	0	0	1	0	0	0	8268	1580	55	3	2062	3	KIAA2018	3	113375850	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1609109	113375850	84646580	353	107457											
KIAA1407	57577	broad.mit.edu	37	chr3	113753973	113753973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtactccagttctttctcaCgtcttaagcgattttctttt	6	10	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:113753973C>T	uc003eax.2	-	6	764	c.617G>A	c.(616-618)CGT>CAT	p.R206H	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.R184H|KIAA1407_uc011bip.1_Missense_Mutation_p.R193H	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	206	Potential.									ovary(2)	2						TTCTTTCTCACGTCTTAAGCG	0.383													T	113753973	C	T	113753973	3	4	195	1	0	0	0	0	1	0	0	0	8229	536	19	1	2241	1	KIAA1407	3	113753973	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	378123	113753973	84268457	354	107458											
ARHGAP31	57514	broad.mit.edu	37	chr3	119120974	119120974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatgttctacacttcgaacGacagccctagcaaatccgtc	7	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:119120974G>A	uc003ecj.3	+	10	1907	c.1375G>A	c.(1375-1377)GAC>AAC	p.D459N		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CACTTCGAACGACAGCCCTAG	0.592													A	119120974	G	A	119120974	3	1	195	1	0	0	0	0	1	0	0	0	880	1058	37	1	1413	1	ARHGAP31	3	119120974	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5367001	119120974	78901456	355	107459											
GTF2E1	2960	broad.mit.edu	37	chr3	120469477	120469477	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgatccggggattttaTggcattgagcatgccttggc	13	7	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:120469477T>G	uc003edz.3	+	2	192	c.78T>G	c.(76-78)TAT>TAG	p.Y26*	GTF2E1_uc003edy.2_Nonsense_Mutation_p.Y26*	NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	26	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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		GGGGATTTTATGGCATTGAGC	0.483													G	120469477	T	G	120469477	4	3	195	1	0	0	0	0	0	1	0	0	6856	1471	51	5	80	5	GTF2E1	3	120469477	Nonsense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1348503	120469477	77552953	356	107460											
POLQ	10721	broad.mit.edu	37	chr3	121179017	121179017	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgaatgagacgacgatcAtgggataaatgagccaagat	11	6	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:121179017A>G	uc003eee.3	-	25	7161	c.7032T>C	c.(7030-7032)CAT>CAC	p.H2344H	POLQ_uc003eed.2_Silent_p.H1516H	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2344					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		GACGACGATCATGGGATAAAT	0.443								DNA_polymerases_(catalytic_subunits)					G	121179017	A	G	121179017	2	3	195	1	0	0	0	0	0	0	0	1	12208	214	8	3		3	POLQ	3	121179017	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	709540	121179017	76843413	357	107461											
POLQ	10721	broad.mit.edu	37	chr3	121206610	121206610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactatattactttctttaCgaggtaagagggatgaggtt	10	5	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:121206610C>T	uc003eee.3	-	16	5297	c.5168G>A	c.(5167-5169)CGT>CAT	p.R1723H	POLQ_uc003eed.2_Missense_Mutation_p.R895H	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1723					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		ACTTTCTTTACGAGGTAAGAG	0.373								DNA_polymerases_(catalytic_subunits)					T	121206610	C	T	121206610	3	4	195	1	0	0	0	0	1	0	0	0	12208	536	19	1	2664	1	POLQ	3	121206610	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	27593	121206610	76815820	358	107462											
POLQ	10721	broad.mit.edu	37	chr3	121238933	121238933	+	Splice_Site	DEL	A	A	-													tctcctcaaaagtaagacctAaaaaaaggaggtttttatat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|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)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)					-	121238933	A	-	121238933	8	5	195	1	0	1	0	1	0	0	1	0	12208	377	13	0		0	POLQ	3	121238933	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	32323	121238933	76783497	359	107463											
GOLGB1	2804	broad.mit.edu	37	chr3	121411357	121411357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttccccctgtagagtaTcacagaccttctgctgaagc	8	12	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:121411357T>C	uc003eei.3	-	14	6965	c.6839A>G	c.(6838-6840)GAT>GGT	p.D2280G	GOLGB1_uc010hrc.2_Missense_Mutation_p.D2285G|GOLGB1_uc003eej.3_Missense_Mutation_p.D2246G	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2280	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CTGTAGAGTATCACAGACCTT	0.453													C	121411357	T	C	121411357	3	2	195	1	0	0	0	0	1	0	0	0	6565	1435	50	3	2976	3	GOLGB1	3	121411357	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	172424	121411357	76611073	360	107464											
PARP15	165631	broad.mit.edu	37	chr3	122345823	122345823	+	Frame_Shift_Del	DEL	A	A	-													atatattctacgacagcatgAaaaaaagagacctctctgca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:122345822_122345822GA>G	uc003efm.2	+	8	1446	c.1380_1380GA>G	c.(1378-1380)atgfs	p.M460fs	PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Frame_Shift_Del_p.M207fs|PARP15_uc003efp.1_Frame_Shift_Del_p.M226fs|PARP15_uc011bjt.1_Intron	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	438	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACGACAGCATGAAAAAAAGAG	0.373													-	122345823	A	-	122345823	7	5	195	1	0	1	0	1	0	0	0	0	11459	247	9	0	1484	0	PARP15	3	122345823	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	934466	122345823	75676607	361	107465											
HSPBAP1	79663	broad.mit.edu	37	chr3	122512524	122512524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcctcggagcctgctgCcatggctaccgcaaggcggg	16	14	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:122512524C>T	uc003efu.1	-	1	127	c.4G>A	c.(4-6)GCA>ACA	p.A2T	DIRC2_uc003efw.3_5'Flank|DIRC2_uc010hrl.2_5'Flank|DIRC2_uc010hrm.2_5'Flank|HSPBAP1_uc003efv.1_Missense_Mutation_p.A2T	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	2						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		GAGCCTGCTGCCATGGCTACC	0.662													T	122512524	C	T	122512524	3	4	195	1	0	0	0	0	1	0	0	0	7425	739	26	2	1494	2	HSPBAP1	3	122512524	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	166701	122512524	75509906	362	107466											
SEMA5B	54437	broad.mit.edu	37	chr3	122646807	122646807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtcataggggcagcggGccacaccattgatcttctca	13	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:122646807G>A	uc003efz.1	-	8	984	c.680C>T	c.(679-681)GCC>GTC	p.A227V	SEMA5B_uc011bju.1_Missense_Mutation_p.A169V|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A227V|SEMA5B_uc010hro.1_Missense_Mutation_p.A169V|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	227	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGGGCAGCGGGCCACACCATT	0.612													A	122646807	G	A	122646807	3	1	195	1	0	0	0	0	1	0	0	0	14038	1203	42	2	2839	2	SEMA5B	3	122646807	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	134283	122646807	75375623	363	107467											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368044	+	Splice_Site	DEL	G	G	-													ccacttcatccttcggctctGgggggggcacaaggaaggac					rs138786404		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin 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)		CCTTCGGCTCTGGGGGGGGCA	0.622													-	123368044	G	-	123368044	8	5	195	1	0	1	0	1	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	DEL	G	TCGA-CG-5728-01A-11D-1600-08	721237	123368044	74654386	364	107468											
KALRN	8997	broad.mit.edu	37	chr3	124438126	124438126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatcttacaggaagattttCggaggcggcccacagcagcc	12	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:124438126C>T	uc003ehg.2	+	60	8897	c.8770C>T	c.(8770-8772)CGG>TGG	p.R2924W	KALRN_uc003ehk.2_Missense_Mutation_p.R1227W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2923	Protein kinase.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGAAGATTTTCGGAGGCGGCC	0.532													T	124438126	C	T	124438126	3	4	195	1	0	0	0	0	1	0	0	0	7975	875	31	1	9164	1	KALRN	3	124438126	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1070082	124438126	73584304	365	107469											
ITGB5	3693	broad.mit.edu	37	chr3	124578267	124578267	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctcagatcacaccgagaGgtgatggaccgtgggcttcc	13	13	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:124578267G>T	uc003eho.2	-	3	480	c.183C>A	c.(181-183)ACC>ACA	p.T61T		NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	61	Extracellular (Potential).|PSI.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		CACACCGAGAGGTGATGGACC	0.572													T	124578267	G	T	124578267	2	4	195	1	0	0	0	0	0	0	0	1	7898	987	35	5		5	ITGB5	3	124578267	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	140141	124578267	73444163	366	107470											
ZXDC	79364	broad.mit.edu	37	chr3	126185161	126185161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgagcggagaacctcgcGcaacatcctggaacaaaaag	10	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:126185161G>A	uc003eiv.2	-	5	1332	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.C426C	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	426	C2H2-type 9.				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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		AGAACCTCGCGCAACATCCTG	0.502													A	126185161	G	A	126185161	2	1	195	1	0	0	0	0	0	0	0	1	18249	1079	38	1		1	ZXDC	3	126185161	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1606894	126185161	71837269	367	107471											
PLXNA1	5361	broad.mit.edu	37	chr3	126730890	126730890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcacggaacctgccacaGccacagtcaggccagcgtgg	13	16	1	0	rs144586368		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:126730890G>A	uc003ejg.2	+	9	2137	c.2133G>A	c.(2131-2133)CAG>CAA	p.Q711Q		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	734	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ACCTGCCACAGCCACAGTCAG	0.642													A	126730890	G	A	126730890	2	1	195	1	0	0	0	0	0	0	0	1	12119	962	34	2		2	PLXNA1	3	126730890	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	545729	126730890	71291540	368	107472											
KBTBD12	166348	broad.mit.edu	37	chr3	127642914	127642914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataatactataattgtggCtggagaagcaagtgcctcta	9	6	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:127642914C>T	uc010hsr.2	+	1	1013	c.1010C>T	c.(1009-1011)GCT>GTT	p.A337V	KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.A337V	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	kelch domain containing 6	337										ovary(1)	1						ATAATTGTGGCTGGAGAAGCA	0.358													T	127642914	C	T	127642914	3	4	195	1	0	0	0	0	1	0	0	0	7991	797	28	2	1012	2	KBTBD12	3	127642914	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	912024	127642914	70379516	369	107473											
EEFSEC	60678	broad.mit.edu	37	chr3	128127069	128127069	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttcaagcgttatgtcttCgacacccacaagcgcatggt	8	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:128127069C>T	uc003eki.2	+	7	1796	c.1758C>T	c.(1756-1758)TTC>TTT	p.F586F	EEFSEC_uc003ekj.2_3'UTR	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	586						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						GTTATGTCTTCGACACCCACA	0.647													T	128127069	C	T	128127069	2	4	195	1	0	0	0	0	0	0	0	1	4931	883	31	1		1	EEFSEC	3	128127069	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	484155	128127069	69895361	370	107474											
PLXND1	23129	broad.mit.edu	37	chr3	129290521	129290521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggtgccagtctcaccTgacagggctgcggcggggac	19	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:129290521T>C	uc003emx.2	-	16	3344	c.3244A>G	c.(3244-3246)AGT>GGT	p.S1082G		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1082	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CAGTCTCACCTGACAGGGCTG	0.657													C	129290521	T	C	129290521	3	2	195	1	0	0	0	0	1	0	0	0	12127	1594	55	3	2617	3	PLXND1	3	129290521	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1163452	129290521	68731909	371	107475											
ACAD11	84129	broad.mit.edu	37	chr3	132324009	132324009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccactgtttcttctgttcCtcacttccatacaggtgcag	7	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:132324009C>A	uc003eov.3	-	12	1835	c.1455G>T	c.(1453-1455)GAG>GAT	p.E485D	ACAD11_uc011blr.1_Missense_Mutation_p.E96D	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	485						peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1						TCTTCTGTTCCTCACTTCCAT	0.403													A	132324009	C	A	132324009	3	1	195	1	0	0	0	0	1	0	0	0	109	680	24	5	923	5	ACAD11	3	132324009	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3033488	132324009	65698421	372	107476											
PIK3CB	5291	broad.mit.edu	37	chr3	138413710	138413710	+	Frame_Shift_Del	DEL	G	G	-													cagaagctctagggcctcccGggggggcagtttaggccaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:138413709_138413709CG>C	uc011bmq.2	-	11	1811	c.1811_1811CG>G	c.(1810-1812)cggfs	p.R604fs	PIK3CB_uc011bmn.2_Frame_Shift_Del_p.R116fs|PIK3CB_uc011bmo.2_Frame_Shift_Del_p.R50fs|PIK3CB_uc011bmp.2_Frame_Shift_Del_p.R191fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	604	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor 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			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						TAGGGCCTCCCGGGGGGGCAG	0.468													-	138413710	G	-	138413710	7	5	195	1	0	1	0	1	0	0	0	0	11914	1115	39	0	1444	0	PIK3CB	3	138413710	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	6089701	138413710	59608720	373	107477											
CLSTN2	64084	broad.mit.edu	37	chr3	140251228	140251228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctgtggtaaccttataCatggatggagcaacatatga	9	7	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:140251228C>T	uc003etn.2	+	9	1597	c.1407C>T	c.(1405-1407)TAC>TAT	p.Y469Y	CLSTN2_uc003etm.2_Silent_p.Y469Y	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	469	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TAACCTTATACATGGATGGAG	0.428										HNSCC(16;0.037)			T	140251228	C	T	140251228	2	4	195	1	0	0	0	0	0	0	0	1	3562	489	17	4		4	CLSTN2	3	140251228	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1837518	140251228	57771202	374	107478											
CHST2	9435	broad.mit.edu	37	chr3	142840665	142840665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtgcgtgatccccgcgCggtggcgagttcacggatcc	15	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:142840665C>T	uc003evm.2	+	2	1896	c.1007C>T	c.(1006-1008)GCG>GTG	p.A336V		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	336	Lumenal (Potential).|PAPS (Probable).				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			ovary(3)	3						GATCCCCGCGCGGTGGCGAGT	0.667													T	142840665	C	T	142840665	3	4	195	1	0	0	0	0	1	0	0	0	3404	768	27	1	1009	1	CHST2	3	142840665	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2589437	142840665	55181765	375	107479											
GYG1	2992	broad.mit.edu	37	chr3	148714687	148714687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgagcaaggtagtttTgatggtatgtatttgctatc	11	5	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:148714687T>C	uc003ewn.2	+	4	530	c.477T>C	c.(475-477)TTT>TTC	p.F159F	GYG1_uc011bnp.1_Intron|GYG1_uc003ewo.2_Silent_p.F159F|GYG1_uc003ewp.2_Silent_p.F159F	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	159					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGGTAGTTTTGATGGTATGT	0.413													C	148714687	T	C	148714687	2	2	195	1	0	0	0	0	0	0	0	1	6905	1809	63	3		3	GYG1	3	148714687	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	5874022	148714687	49307743	376	107480											
FAM194A	131831	broad.mit.edu	37	chr3	150387141	150387141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggaatccagcactgctaGgatagcagggttagtgggca	15	7	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:150387141G>T	uc003eyg.2	-	12	1498	c.1441C>A	c.(1441-1443)CTA>ATA	p.L481I	FAM194A_uc003eyh.2_Missense_Mutation_p.L335I	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	481										skin(2)|ovary(1)	3						AGCACTGCTAGGATAGCAGGG	0.463													T	150387141	G	T	150387141	3	4	195	1	0	0	0	0	1	0	0	0	5526	991	35	5	562	5	FAM194A	3	150387141	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1672454	150387141	47635289	377	107481											
SGEF	26084	broad.mit.edu	37	chr3	153839836	153839836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcataacccctttgtggCggaggcggtcgattcctcag	12	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:153839836C>T	uc011bog.1	+	2	266	c.55C>T	c.(55-57)CGG>TGG	p.R19W	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R19W	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	19					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCTTTGTGGCGGAGGCGGTC	0.607													T	153839836	C	T	153839836	3	4	195	1	0	0	0	0	1	0	0	0	14205	759	27	1	57	1	SGEF	3	153839836	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3452695	153839836	44182594	378	107482											
PLCH1	23007	broad.mit.edu	37	chr3	155282736	155282736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccctcttgcagcaccCgtgcatacatatccactttg	7	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:155282736C>T	uc011bok.1	-	7	1278	c.1001G>A	c.(1000-1002)CGG>CAG	p.R334Q	PLCH1_uc011boj.1_Missense_Mutation_p.R334Q|PLCH1_uc011bol.1_Missense_Mutation_p.R316Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	334	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCAGCACCCGTGCATACAT	0.507													T	155282736	C	T	155282736	3	4	195	1	0	0	0	0	1	0	0	0	12037	652	23	1	4163	1	PLCH1	3	155282736	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1442900	155282736	42739694	379	107483											
MFSD1	64747	broad.mit.edu	37	chr3	158537447	158537447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttatttagggggtataaCgtgtattctttcactaatct	7	5	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:158537447C>T	uc003fcl.1	+	8	692	c.662C>T	c.(661-663)ACG>ATG	p.T221M	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.T124M|MFSD1_uc011bow.1_Missense_Mutation_p.T182M|MFSD1_uc011box.1_Missense_Mutation_p.T148M	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	221	Helical; (Potential).				transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGGGGTATAACGTGTATTCTT	0.343													T	158537447	C	T	158537447	3	4	195	1	0	0	0	0	1	0	0	0	9527	536	19	1	839	1	MFSD1	3	158537447	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3254711	158537447	39484983	380	107484											
SI	6476	broad.mit.edu	37	chr3	164735854	164735854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccataggaattaagtttgtActgaaatacgaaaaataagc	7	5	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:164735854A>G	uc003fei.2	-	29	3486	c.3424T>C	c.(3424-3426)TAC>CAC	p.Y1142H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1142	Sucrase.|Lumenal.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAAGTTTGTACTGAAATACG	0.308										HNSCC(35;0.089)			G	164735854	A	G	164735854	3	3	195	1	0	0	0	0	1	0	0	0	14297	405	14	3	2139	3	SI	3	164735854	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	6198407	164735854	33286576	381	107485											
WDR49	151790	broad.mit.edu	37	chr3	167272480	167272480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataatcatacctctcccagCctgtaaccagtattttcttc	3	14	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:167272480C>A	uc003fev.1	-	6	1064	c.758G>T	c.(757-759)GGC>GTC	p.G253V	WDR49_uc003feu.1_Missense_Mutation_p.G78V|WDR49_uc011bpd.1_Missense_Mutation_p.G306V|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	253										large_intestine(1)|ovary(1)|skin(1)	3						CCTCTCCCAGCCTGTAACCAG	0.328													A	167272480	C	A	167272480	3	1	195	1	0	0	0	0	1	0	0	0	17299	739	26	5	1375	5	WDR49	3	167272480	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2536626	167272480	30749950	382	107486											
SAMD7	344658	broad.mit.edu	37	chr3	169642898	169642898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggccagaaggaatgaAatgattcaacggcatcatac	11	8	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:169642898A>G	uc003fgd.2	+	5	531	c.264A>G	c.(262-264)GAA>GAG	p.E88E	SAMD7_uc003fge.2_Silent_p.E88E|SAMD7_uc011bpo.1_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	88										skin(1)	1	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)			GAAGGAATGAAATGATTCAAC	0.353													G	169642898	A	G	169642898	2	3	195	1	0	0	0	0	0	0	0	1	13824	11	1	3		3	SAMD7	3	169642898	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2370418	169642898	28379532	383	107487											
GPR160	26996	broad.mit.edu	37	chr3	169802469	169802469	+	Frame_Shift_Del	DEL	A	A	-													ccagttatactgtgagatctAaaaaaatattcttatccaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:169802468_169802468TA>T	uc003fgi.3	+	3	1298	c.708_708TA>T	c.(706-708)tctfs	p.S236fs	GPR160_uc010hwq.3_Frame_Shift_Del_p.S236fs|GPR160_uc021xhe.1_Frame_Shift_Del_p.S236fs	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Homo sapiens G protein-coupled receptor 160 (GPR160), mRNA.	236						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)			CTGTGAGATCTAAAAAAATAT	0.323													-	169802469	A	-	169802469	7	5	195	1	0	1	0	1	0	0	0	0	6664	363	13	0	711	0	GPR160	3	169802469	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	159571	169802469	28219961	384	107488											
SLC7A14	57709	broad.mit.edu	37	chr3	170201230	170201230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttggcagcatagaaccCatgagccacaaacatctcca	7	12	1	2	rs2276717	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:170201230C>A	uc003fgz.2	-	6	1304	c.988G>T	c.(988-990)GGG>TGG	p.G330W	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	330						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			GCATAGAACCCATGAGCCACA	0.498											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	170201230	C	A	170201230	3	1	195	1	0	0	0	0	1	0	0	0	14696	594	21	5	1339	5	SLC7A14	3	170201230	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	398761	170201230	27821200	385	107489											
TNIK	23043	broad.mit.edu	37	chr3	170857333	170857333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctcctctaactgtcGcctgatgtattcctggagag	9	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:170857333G>A	uc003fhh.2	-	14	1690	c.1345C>T	c.(1345-1347)CGA>TGA	p.R449*	TNIK_uc003fhi.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	449	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			ovary(4)|large_intestine(1)	5	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)			TCTAACTGTCGCCTGATGTAT	0.468													A	170857333	G	A	170857333	4	1	195	1	0	0	0	0	0	1	0	0	16310	1095	38	1	2817	1	TNIK	3	170857333	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	656103	170857333	27165097	386	107490											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	8	7	0	4	rs121913287		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:178916876G>A	uc003fjk.2	+	2	420	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		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.R88Q(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	195	1	0	0	0	0	1	0	0	0	11913	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8059543	178916876	19105554	387	107491											
MCF2L2	23101	broad.mit.edu	37	chr3	183017896	183017896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcctgagctccacacacCggggcctgatggcatctgct	13	14	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:183017896C>T	uc003fli.1	-	11	1292	c.1202G>A	c.(1201-1203)CGG>CAG	p.R401Q	MCF2L2_uc003flj.1_Missense_Mutation_p.R401Q|MCF2L2_uc011bqr.1_RNA|MCF2L2_uc003flp.1_3'UTR	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	401	Spectrin.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	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)			CTCCACACACCGGGGCCTGAT	0.512													T	183017896	C	T	183017896	3	4	195	1	0	0	0	0	1	0	0	0	9380	652	23	1	2222	1	MCF2L2	3	183017896	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4101020	183017896	15004534	388	107492											
TPRG1	285386	broad.mit.edu	37	chr3	189028328	189028328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattccttgaaatttgcaaGgtaggaggcatcttgggtat	11	5	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:189028328G>T	uc003frv.1	+	10	1860	c.633G>T	c.(631-633)AAG>AAT	p.K211N	TPRG1_uc003frw.1_Missense_Mutation_p.K211N	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	211											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AAATTTGCAAGGTAGGAGGCA	0.398													T	189028328	G	T	189028328	3	4	195	1	0	0	0	0	1	0	0	0	16415	1014	35	5	647	5	TPRG1	3	189028328	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6010432	189028328	8994102	389	107493											
IL1RAP	3556	broad.mit.edu	37	chr3	190341140	190341140	+	Frame_Shift_Del	DEL	A	A	-													tcctctaacacaggctctccAaaaaatgcagtgccccctgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:190341139_190341139CA>C	uc010hzg.2	+	7	1131	c.710_710CA>C	c.(709-711)ccafs	p.P237fs	IL1RAP_uc003fsk.3_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fsl.3_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fsm.2_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fso.2_Frame_Shift_Del_p.P237fs|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Frame_Shift_Del_p.P237fs	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	237					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)		ACAGGCTCTCCAAAAAATGCA	0.398													-	190341140	A	-	190341140	7	5	195	1	0	1	0	1	0	0	0	0	7660	117	5	0	729	0	IL1RAP	3	190341140	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1312812	190341140	7681290	390	107494											
IL1RAP	3556	broad.mit.edu	37	chr3	190345194	190345194	+	Frame_Shift_Del	DEL	A	A	-													gtttggtggaccattgatggAaaaaaacctgatgacatcac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:190345193_190345193GA>G	uc010hzg.2	+	8	1278	c.857_857GA>G	c.(856-858)ggafs	p.G286fs	IL1RAP_uc003fsk.3_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fsl.3_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fsm.2_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fso.2_Frame_Shift_Del_p.G286fs|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Frame_Shift_Del_p.G286fs	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	286	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)		ACCATTGATGGAAAAAAACCT	0.398													-	190345194	A	-	190345194	7	5	195	1	0	1	0	1	0	0	0	0	7660	233	9	0	880	0	IL1RAP	3	190345194	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4054	190345194	7677236	391	107495											
GP5	2814	broad.mit.edu	37	chr3	194118298	194118298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaggtttgggagccggtcGaaggccccgggtgcgatgga	19	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:194118298G>A	uc003ftv.1	-	2	745	c.714C>T	c.(712-714)TTC>TTT	p.F238F		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	238	Extracellular (Potential).|LRR 7.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	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)		GGAGCCGGTCGAAGGCCCCGG	0.567													A	194118298	G	A	194118298	2	1	195	1	0	0	0	0	0	0	0	1	6583	1049	37	1		1	GP5	3	194118298	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3773104	194118298	3904132	392	107496											
ACAP2	23527	broad.mit.edu	37	chr3	195022892	195022892	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctgtggatggagatgatttCttatccagcttctaaaagaa	9	7	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:195022892C>G	uc003fun.3	-	14	1369	c.1128G>C	c.(1126-1128)AAG>AAC	p.K376N		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	376					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						GAGATGATTTCTTATCCAGCT	0.363													G	195022892	C	G	195022892	3	3	195	1	0	0	0	0	1	0	0	0	119	912	32	5	1248	5	ACAP2	3	195022892	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	904594	195022892	2999538	393	107497											
MUC4	4585	broad.mit.edu	37	chr3	195497165	195497165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggccttgtagcccccGttgtttgtcatctttctaat	7	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:195497165G>A	uc011bto.1	-	7	13396	c.12936C>T	c.(12934-12936)AAC>AAT	p.N4312N	MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Translation_Start_Site|MUC4_uc003fvb.2_Translation_Start_Site|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Translation_Start_Site|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.N4N|MUC4_uc011bti.1_Silent_p.N4N|MUC4_uc011btj.1_Silent_p.N181N|MUC4_uc011btk.1_Translation_Start_Site|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Silent_p.N204N|MUC4_uc003fvp.2_Silent_p.N153N|MUC4_uc010hzu.1_Silent_p.N1052N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1197	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		TGTAGCCCCCGTTGTTTGTCA	0.567													A	195497165	G	A	195497165	2	1	195	1	0	0	0	0	0	0	0	1	9978	1136	40	1		1	MUC4	3	195497165	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	474273	195497165	2525265	394	107498											
LRCH3	84859	broad.mit.edu	37	chr3	197547200	197547200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcttttcgaaataggatgTgagctgcaatgaaattcaaa	8	5	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr3:197547200T>C	uc011bul.1	+	4	544	c.539T>C	c.(538-540)GTG>GCG	p.V180A	LRCH3_uc003fyj.1_Missense_Mutation_p.V180A|LRCH3_uc011bum.1_Missense_Mutation_p.V180A|LRCH3_uc011bun.1_Intron	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	180	LRR 5.					extracellular region				ovary(1)	1	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)		AAATAGGATGTGAGCTGCAAT	0.348													C	197547200	T	C	197547200	3	2	195	1	0	0	0	0	1	0	0	0	8934	1696	59	3	553	3	LRCH3	3	197547200	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2050035	197547200	475230	395	107499											
ZNF718	255403	broad.mit.edu	37	chr4	155880	155880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtactccaaccttcctcaaCataagagaactcatactgga	5	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:155880C>A	uc003fzt.3	+	8	1538	c.1405C>A	c.(1405-1407)CAT>AAT	p.H469N	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_3'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	469	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CCTTCCTCAACATAAGAGAAC	0.358													A	155880	C	A	155880	3	1	195	1	0	0	0	0	1	0	0	0	18117	478	17	5	1419	5	ZNF718	4	155880	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08		155880	190998396	396	107500											
GAK	2580	broad.mit.edu	37	chr4	844859	844860	+	Frame_Shift_Del	DEL	TT	TT	-													tcaaagtcgttctcagagacTtttggcttttgagctagaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:844858_844859CTT>C	uc003gbm.4	-	25	3721_3722	c.3522_3523AAG>G	c.(3520-3525)aaagtcfs	p.K1174fs	GAK_uc003gbn.4_Frame_Shift_Del_p.K1095fs|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Frame_Shift_Del_p.K1027fs	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1174					cell cycle	Golgi apparatus|focal adhesion|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)		TTCTCAGAGACTTTTGGCTTTT	0.47													-	844860	TT	-	844859	7	5	195	1	0	1	0	1	0	0	0	0	6195	1606	56	0	425	0	GAK	4	844859	Frame_Shift_Del	DEL	TT	TCGA-CG-5728-01A-11D-1600-08	688979	844859	190309417	397	107501											
WHSC1	7468	broad.mit.edu	37	chr4	1962797	1962797	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtacgttggggagctgatCgacgaggaggagtgcatggc	19	6	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:1962797C>T	uc003gdz.3	+	18	3467	c.3291C>T	c.(3289-3291)ATC>ATT	p.I1097I	WHSC1_uc003geb.3_Silent_p.I1097I|WHSC1_uc003gec.3_Silent_p.I1097I|WHSC1_uc003ged.3_Silent_p.I1097I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.I316I|WHSC1_uc011bvh.1_Silent_p.I158I|WHSC1_uc010icf.2_Silent_p.I445I	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1097	SET.				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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGAGCTGATCGACGAGGAGG	0.512			T	IGH@	MM								T	1962797	C	T	1962797	2	4	195	1	0	0	0	0	0	0	0	1	17359	874	31	1		1	WHSC1	4	1962797	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1117938	1962797	189191479	398	107502											
ADD1	118	broad.mit.edu	37	chr4	2899982	2899982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggagaagtggcttatcaTgactaccatggcattctggt	11	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:2899982T>C	uc003gfr.2	+	7	1001	c.813T>C	c.(811-813)CAT>CAC	p.H271H	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.H271H|ADD1_uc003gfo.2_Silent_p.H271H|ADD1_uc003gfp.2_Silent_p.H271H|ADD1_uc003gfq.2_Silent_p.H271H|ADD1_uc003gfs.2_Silent_p.H271H|ADD1_uc003gft.3_Silent_p.H271H|ADD1_uc003gfu.2_Silent_p.H21H	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	271					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			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCTTATCATGACTACCATG	0.453													C	2899982	T	C	2899982	2	2	195	1	0	0	0	0	0	0	0	1	304	1461	51	3		3	ADD1	4	2899982	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	937185	2899982	188254294	399	107503											
EVC2	132884	broad.mit.edu	37	chr4	5633549	5633550	+	Frame_Shift_Ins	INS	-	-	T													gaataattttgcagcagcatINStttagctgcctctggtttca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:5633548_5633549A>AT	uc003gij.3	-	10	1735_1736	c.1681_1682T>AT	c.(1681-1683)atgfs	p.M561fs	EVC2_uc003gik.3_Frame_Shift_Ins_p.M481fs|EVC2_uc011bwb.2_Frame_Shift_Ins_p.M1fs	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	561						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						TTGCAGCAGCATTTTAGCTGCC	0.371													T	5633550	-	T	5633549	7	5	195	1	0	1	1	0	0	0	0	0	5286	1493	52	0	2293	0	EVC2	4	5633549	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	2733567	5633549	185520727	400	107504											
EVC	2121	broad.mit.edu	37	chr4	5785435	5785435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagctggggaagtcaaatCgcttccggaggcagcagtgg	17	9	1	0	rs141820870		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:5785435C>T	uc003gil.1	+	12	1904	c.1720C>T	c.(1720-1722)CGC>TGC	p.R574C	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	574					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GAAGTCAAATCGCTTCCGGAG	0.597													T	5785435	C	T	5785435	3	4	195	1	0	0	0	0	1	0	0	0	5285	884	31	1	1766	1	EVC	4	5785435	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	151886	5785435	185368841	401	107505											
EVC	2121	broad.mit.edu	37	chr4	5806514	5806514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaactcagcaacccttcgtCgggcagcaggacggcaggtg	14	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:5806514C>T	uc003gil.1	+	17	2691	c.2507C>T	c.(2506-2508)TCG>TTG	p.S836L	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	836					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AACCCTTCGTCGGGCAGCAGG	0.552													T	5806514	C	T	5806514	3	4	195	1	0	0	0	0	1	0	0	0	5285	893	31	1	2573	1	EVC	4	5806514	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	21079	5806514	185347762	402	107506											
C4orf50	389197	broad.mit.edu	37	chr4	5982061	5982061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacctcggcctctgagtccCggagctgcggaaatcacaga	11	13	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:5982061C>T	uc003git.1	-	2	98	c.8G>A	c.(7-9)CGG>CAG	p.R3Q		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	3										pancreas(2)|breast(1)	3						CTCTGAGTCCCGGAGCTGCGG	0.562													T	5982061	C	T	5982061	3	4	195	1	0	0	0	0	1	0	0	0	2276	652	23	1	846	1	C4orf50	4	5982061	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	175547	5982061	185172215	403	107507											
MRFAP1L1	114932	broad.mit.edu	37	chr4	6711156	6711156	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaggcctccacctgcgttttGatctggataagcatattgtc	10	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:6711156G>C	uc003gjn.2	-	1	441	c.201C>G	c.(199-201)ATC>ATG	p.I67M	MRFAP1L1_uc003gjo.2_Missense_Mutation_p.I67M	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	67											0						CCTGCGTTTTGATCTGGATAA	0.607													C	6711156	G	C	6711156	3	2	195	1	0	0	0	0	1	0	0	0	9762	1280	45	5	186	5	MRFAP1L1	4	6711156	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	729095	6711156	184443120	404	107508											
KIAA0232	9778	broad.mit.edu	37	chr4	6862970	6862970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagattcgccctcgctcGtggtcttctggctccagtga	12	12	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:6862970G>A	uc003gjr.3	+	7	1324	c.861G>A	c.(859-861)TCG>TCA	p.S287S	KIAA0232_uc003gjq.3_Silent_p.S287S	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	287							ATP binding			ovary(2)	2						GCCCTCGCTCGTGGTCTTCTG	0.428													A	6862970	G	A	6862970	2	1	195	1	0	0	0	0	0	0	0	1	8163	1132	40	1		1	KIAA0232	4	6862970	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	151814	6862970	184291306	405	107509											
KIAA0232	9778	broad.mit.edu	37	chr4	6864819	6864819	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catttgcttctagtgagctaTcaaacgtggatggtggtgat	12	6	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:6864819T>A	uc003gjr.3	+	7	3173	c.2710T>A	c.(2710-2712)TCA>ACA	p.S904T	KIAA0232_uc003gjq.3_Missense_Mutation_p.S904T	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	904							ATP binding			ovary(2)	2						TAGTGAGCTATCAAACGTGGA	0.468													A	6864819	T	A	6864819	3	1	195	1	0	0	0	0	1	0	0	0	8163	1435	50	5	2728	5	KIAA0232	4	6864819	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1849	6864819	184289457	406	107510											
ABLIM2	84448	broad.mit.edu	37	chr4	8021937	8021938	+	Frame_Shift_Ins	INS	-	-	T													ccggagcctacctgggacgtINSggaagtggcgaggtgcctgc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:8021936_8021937G>GT	uc003gko.3	-	11	1405_1406	c.1262_1263C>AC	c.(1261-1263)cacfs	p.H421fs	ABLIM2_uc003gkk.3_Frame_Shift_Ins_p.H84fs|ABLIM2_uc003gkl.3_Intron|ABLIM2_uc003gkm.4_Intron|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Frame_Shift_Ins_p.H421fs|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Frame_Shift_Ins_p.H454fs|ABLIM2_uc003gks.3_Intron	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	421					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TACCTGGGACGTGGAAGTGGCG	0.629													T	8021938	-	T	8021937	7	5	195	1	0	1	1	0	0	0	0	0	95	1696	59	0	629	0	ABLIM2	4	8021937	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1157118	8021937	183132339	407	107511											
ACOX3	8310	broad.mit.edu	37	chr4	8411994	8411994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggcacacacagcttaGcaaacaccaccgcgtgagtg	9	16	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:8411994G>A	uc010idk.2	-	6	777	c.632C>T	c.(631-633)GCT>GTT	p.A211V	ACOX3_uc003glc.3_Missense_Mutation_p.A211V|ACOX3_uc003gld.3_Missense_Mutation_p.A211V|ACOX3_uc003gle.1_Missense_Mutation_p.A116V	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	211					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			central_nervous_system(1)	1						ACACAGCTTAGCAAACACCAC	0.463													A	8411994	G	A	8411994	3	1	195	1	0	0	0	0	1	0	0	0	160	971	34	2	1522	2	ACOX3	4	8411994	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	390057	8411994	182742282	408	107512											
LDB2	9079	broad.mit.edu	37	chr4	16900030	16900030	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagattcggtactctggctGtaccatgtatggtgtatgcc	11	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:16900030G>A	uc003goz.2	-	1	395	c.79C>T	c.(79-81)CAG>TAG	p.Q27*	LDB2_uc003gpa.2_Nonsense_Mutation_p.Q27*|LDB2_uc003gpb.2_Nonsense_Mutation_p.Q27*|LDB2_uc011bxh.1_Nonsense_Mutation_p.Q27*|LDB2_uc010iee.2_Nonsense_Mutation_p.Q27*	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	27							LIM domain binding|transcription cofactor activity				0						TACTCTGGCTGTACCATGTAT	0.443													A	16900030	G	A	16900030	4	1	195	1	0	0	0	0	0	1	0	0	8696	1386	48	4	1183	4	LDB2	4	16900030	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8488036	16900030	174254246	409	107513											
SLIT2	9353	broad.mit.edu	37	chr4	20620460	20620460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggctatgctgcttgccaaaCaaccaagaaggtgtcccgat	11	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:20620460C>G	uc003gpr.1	+	37	4622	c.4418C>G	c.(4417-4419)ACA>AGA	p.T1473R	SLIT2_uc003gps.1_Missense_Mutation_p.T1465R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1473	CTCK.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						GCTTGCCAAACAACCAAGAAG	0.483													G	20620460	C	G	20620460	3	3	195	1	0	0	0	0	1	0	0	0	14740	478	17	5	4564	5	SLIT2	4	20620460	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3720430	20620460	170533816	410	107514											
GPR125	166647	broad.mit.edu	37	chr4	22415322	22415322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaaaagctttccattgCggaatgcaatgagttgaagc	11	7	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:22415322C>T	uc003gqm.1	-	13	2190	c.1925G>A	c.(1924-1926)CGC>CAC	p.R642H	GPR125_uc010ieo.1_Missense_Mutation_p.R498H	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	642	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CTTTCCATTGCGGAATGCAAT	0.423													T	22415322	C	T	22415322	3	4	195	1	0	0	0	0	1	0	0	0	6639	768	27	1	2068	1	GPR125	4	22415322	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1794862	22415322	168738954	411	107515											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830129	23830129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgaggagggtcatcGtttgtggtcagatatttgag	16	3	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:23830129G>A	uc003gqs.2	-	5	771	c.651C>T	c.(649-651)AAC>AAT	p.N217N	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	217					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			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GAGGGTCATCGTTTGTGGTCA	0.468													A	23830129	G	A	23830129	2	1	195	1	0	0	0	0	0	0	0	1	12300	1136	40	1		1	PPARGC1A	4	23830129	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1414807	23830129	167324147	412	107516											
TLR6	10333	broad.mit.edu	37	chr4	38830853	38830853	+	Frame_Shift_Del	DEL	A	A	-													ttctgttatgggaaagtctcAaaactgtcaactctgataga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:38830852_38830852CA>C	uc010ifg.2	-	1	364	c.243_243TG>G	c.(241-243)ttgfs	p.L81fs	TLR6_uc003gtm.3_Frame_Shift_Del_p.L81fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	81					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|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|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|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						GGGAAAGTCTCAAAACTGTCA	0.373													-	38830853	A	-	38830853	7	5	195	1	0	1	0	1	0	0	0	0	15952	131	5	0	2152	0	TLR6	4	38830853	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	15000724	38830853	152323423	413	107517											
FAM114A1	92689	broad.mit.edu	37	chr4	38910256	38910256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgcgttggaattcaTcggcaagaaaaccatgaatg	10	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:38910256T>C	uc003gtn.2	+	7	877	c.701T>C	c.(700-702)ATC>ACC	p.I234T	FAM114A1_uc011byh.1_Missense_Mutation_p.I27T	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	234						cytoplasm				ovary(1)	1						TTGGAATTCATCGGCAAGAAA	0.458													C	38910256	T	C	38910256	3	2	195	1	0	0	0	0	1	0	0	0	5403	1435	50	3	719	3	FAM114A1	4	38910256	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	79403	38910256	152244020	414	107518											
FAM114A1	92689	broad.mit.edu	37	chr4	38910296	38910296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttgcagaaagtgacccGggctttaagcggaccaagac	12	11	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:38910296G>A	uc003gtn.2	+	7	917	c.741G>A	c.(739-741)CCG>CCA	p.P247P	FAM114A1_uc011byh.1_Silent_p.P40P	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	247						cytoplasm				ovary(1)	1						AAAGTGACCCGGGCTTTAAGC	0.418													A	38910296	G	A	38910296	2	1	195	1	0	0	0	0	0	0	0	1	5403	1103	39	1		1	FAM114A1	4	38910296	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	40	38910296	152243980	415	107519											
KLHL5	51088	broad.mit.edu	37	chr4	39104951	39104951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccgtacaaatatgtggActccagtagcaaatatgaat	7	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:39104951A>G	uc003gts.2	+	7	1558	c.1483A>G	c.(1483-1485)ACT>GCT	p.T495A	KLHL5_uc003gtp.2_Missense_Mutation_p.T449A|KLHL5_uc003gtq.2_Missense_Mutation_p.T308A|KLHL5_uc003gtr.1_Missense_Mutation_p.T495A|KLHL5_uc003gtt.2_Missense_Mutation_p.T434A	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	495	Kelch 1.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1						AAATATGTGGACTCCAGTAGC	0.373													G	39104951	A	G	39104951	3	3	195	1	0	0	0	0	1	0	0	0	8392	275	10	3	1509	3	KLHL5	4	39104951	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	194655	39104951	152049325	416	107520											
UGDH	7358	broad.mit.edu	37	chr4	39512462	39512462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttccccattccatagGtttttgttggagtattcacc	8	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:39512462G>T	uc003guk.1	-	4	600	c.284C>A	c.(283-285)ACC>AAC	p.T95N	UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Intron	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	95					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			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	CATTCCATAGGTTTTTGTTGG	0.413													T	39512462	G	T	39512462	3	4	195	1	0	0	0	0	1	0	0	0	16937	1261	44	5	1236	5	UGDH	4	39512462	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	407511	39512462	151641814	417	107521											
LIMCH1	22998	broad.mit.edu	37	chr4	41687824	41687824	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagcattaaccatcagatCgagtctcccagtgaaaggcg	9	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:41687824C>T	uc003gvu.3	+	23	2967	c.2913C>T	c.(2911-2913)ATC>ATT	p.I971I	LIMCH1_uc003gvv.3_Silent_p.I971I|LIMCH1_uc003gvw.3_Silent_p.I970I|LIMCH1_uc003gvx.3_Silent_p.I983I|LIMCH1_uc003gwe.3_Silent_p.I894I|LIMCH1_uc003gvy.3_Silent_p.I799I|LIMCH1_uc003gwa.3_Silent_p.I811I|LIMCH1_uc003gvz.3_Silent_p.I1355I|LIMCH1_uc011byu.1_Silent_p.I804I|LIMCH1_uc003gwc.3_Silent_p.I816I|LIMCH1_uc003gwd.3_Silent_p.I804I|LIMCH1_uc011byv.1_Silent_p.I721I|LIMCH1_uc011byw.1_Silent_p.I270I	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	971					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						ACCATCAGATCGAGTCTCCCA	0.428													T	41687824	C	T	41687824	2	4	195	1	0	0	0	0	0	0	0	1	8797	874	31	1		1	LIMCH1	4	41687824	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2175362	41687824	149466452	418	107522											
LIMCH1	22998	broad.mit.edu	37	chr4	41691639	41691639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatctctattttcacaTccagtgtttcagggtacgta	6	11	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:41691639T>C	uc003gvu.3	+	25	3164	c.3110T>C	c.(3109-3111)ATC>ACC	p.I1037T	LIMCH1_uc003gvv.3_Missense_Mutation_p.I1011T|LIMCH1_uc003gvw.3_Missense_Mutation_p.I1010T|LIMCH1_uc003gvx.3_Missense_Mutation_p.I1023T|LIMCH1_uc003gwe.3_Missense_Mutation_p.I934T|LIMCH1_uc003gvy.3_Missense_Mutation_p.I839T|LIMCH1_uc003gwa.3_Missense_Mutation_p.I851T|LIMCH1_uc003gvz.3_Missense_Mutation_p.I1421T|LIMCH1_uc011byu.1_Missense_Mutation_p.I870T|LIMCH1_uc003gwc.3_Missense_Mutation_p.I856T|LIMCH1_uc003gwd.3_Missense_Mutation_p.I844T|LIMCH1_uc011byv.1_Missense_Mutation_p.I787T|LIMCH1_uc011byw.1_Missense_Mutation_p.I310T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1037	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TATTTTCACATCCAGTGTTTC	0.453													C	41691639	T	C	41691639	3	2	195	1	0	0	0	0	1	0	0	0	8797	1435	50	3	3236	3	LIMCH1	4	41691639	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3815	41691639	149462637	419	107523											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984149	41984149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcccttcgttccacGtgtacgtgctcagaaacctc	8	13	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:41984149G>T	uc003gwk.2	+	1	437	c.340G>T	c.(340-342)GTG>TTG	p.V114L		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	114										skin(1)	1						TTCGTTCCACGTGTACGTGCT	0.557													T	41984149	G	T	41984149	3	4	195	1	0	0	0	0	1	0	0	0	4271	1145	40	5	342	5	DCAF4L1	4	41984149	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	292510	41984149	149170127	420	107524											
GSX2	170825	broad.mit.edu	37	chr4	54967794	54967794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggcaagaggatgaggaCggcgttcactagcacgcaac	13	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:54967794C>T	uc010igp.1	+	2	884	c.620C>T	c.(619-621)ACG>ATG	p.T207M	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	207	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	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)			AGGATGAGGACGGCGTTCACT	0.577													T	54967794	C	T	54967794	3	4	195	1	0	0	0	0	1	0	0	0	6850	536	19	1	626	1	GSX2	4	54967794	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	12983645	54967794	136186482	421	107525											
KIT	3815	broad.mit.edu	37	chr4	55569973	55569973	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgttgactatcagttcagcGagagttaatgattctggagt	11	6	3	3	rs142772432		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:55569973G>A	uc010igr.2	+	5	927	c.840G>A	c.(838-840)GCG>GCA	p.A280A	KIT_uc010igs.2_Silent_p.A280A	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	280	Extracellular (Potential).|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			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	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)	TCAGTTCAGCGAGAGTTAATG	0.388		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				A	55569973	G	A	55569973	2	1	195	1	0	0	0	0	0	0	0	1	8329	1045	37	1		1	KIT	4	55569973	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	602179	55569973	135584303	422	107526											
TMEM165	55858	broad.mit.edu	37	chr4	56277913	56277913	+	Frame_Shift_Del	DEL	T	T	-													ctgaattgggtgataagacaTtttttatagcagccatcatg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:56277912_56277912AT>A	uc003hax.2	+	1	606	c.339_339AT>A	c.(337-339)acafs	p.T113fs	TMEM165_uc011bzy.1_Frame_Shift_Del_p.T50fs	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	Homo sapiens transmembrane protein 165 (TMEM165), mRNA.	113						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)			GTGATAAGACATTTTTTATAG	0.433													-	56277913	T	-	56277913	7	5	195	1	0	1	0	1	0	0	0	0	16077	1493	52	0	346	0	TMEM165	4	56277913	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	707940	56277913	134876363	423	107527											
EXOC1	55763	broad.mit.edu	37	chr4	56765965	56765966	+	Frame_Shift_Ins	INS	-	-	A													atctcatgtctagaagcagaINSaaaaaaagaagccaaacaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:56765964_56765965G>GA	uc003hbe.1	+	16	2409_2410	c.2251_2252G>GA	c.(2251-2253)gaafs	p.E751fs	EXOC1_uc003hbf.1_Frame_Shift_Ins_p.E751fs|EXOC1_uc003hbg.1_Frame_Shift_Ins_p.E736fs	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	751					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)					TCTAGAAGCAGAAAAAAAAGAA	0.337													A	56765966	-	A	56765965	7	5	195	1	0	1	1	0	0	0	0	0	5301	246	9	0	2314	0	EXOC1	4	56765965	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	488052	56765965	134388311	424	107528											
EPHA5	2044	broad.mit.edu	37	chr4	66356166	66356166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtcggacactccattcActgcctcaatctcaaaggta	6	13	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:66356166A>T	uc003hcy.2	-	5	1524	c.1331T>A	c.(1330-1332)GTG>GAG	p.V444E	EPHA5_uc003hcx.2_Missense_Mutation_p.V375E|EPHA5_uc003hcz.2_Missense_Mutation_p.V444E|EPHA5_uc011cah.1_Missense_Mutation_p.V444E|EPHA5_uc011cai.1_Missense_Mutation_p.V444E|EPHA5_uc003hda.2_Missense_Mutation_p.V444E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	444	Fibronectin type-III 1.|Extracellular (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CACTCCATTCACTGCCTCAAT	0.498										TSP Lung(17;0.13)			T	66356166	A	T	66356166	3	4	195	1	0	0	0	0	1	0	0	0	5170	159	6	5	1838	5	EPHA5	4	66356166	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	9590201	66356166	124798110	425	107529											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68812182	68812182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctaccaaatactaggaagTgaaccaggagacctatggtc	9	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:68812182T>C	uc003hdr.1	-	2	240	c.119A>G	c.(118-120)CAC>CGC	p.H40R	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.H40R	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	40	Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						TACTAGGAAGTGAACCAGGAG	0.388													C	68812182	T	C	68812182	3	2	195	1	0	0	0	0	1	0	0	0	16236	1696	59	3	1182	3	TMPRSS11A	4	68812182	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2456016	68812182	122342094	426	107530											
SULT1E1	6783	broad.mit.edu	37	chr4	70719960	70719960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccttttcccaaaatgagGcaggaagaagttcaggtggc	11	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:70719960G>A	uc003heo.2	-	4	457	c.344C>T	c.(343-345)GCC>GTC	p.A115V	SULT1E1_uc010ihv.1_Missense_Mutation_p.A115V	NM_005420	NP_005411	P49888	ST1E1_HUMAN	estrogen sulfotransferase	115					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			ovary(1)	1						CCAAAATGAGGCAGGAAGAAG	0.353													A	70719960	G	A	70719960	3	1	195	1	0	0	0	0	1	0	0	0	15377	1203	42	2	560	2	SULT1E1	4	70719960	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1907778	70719960	120434316	427	107531											
AMBN	258	broad.mit.edu	37	chr4	71472342	71472342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttccaggaagaagcaacCatggataccacgatggcccc	10	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:71472342C>T	uc003hfl.2	+	13	1314	c.1239C>T	c.(1237-1239)ACC>ACT	p.T413T		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	413					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			AAGAAGCAACCATGGATACCA	0.517													T	71472342	C	T	71472342	2	4	195	1	0	0	0	0	0	0	0	1	563	581	21	4		4	AMBN	4	71472342	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	752382	71472342	119681934	428	107532											
ENAM	10117	broad.mit.edu	37	chr4	71503555	71503555	+	Frame_Shift_Del	DEL	G	G	-													caccaatcagcaatgaagaaGggggggtaagtacaagtaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:71503554_71503554AG>A	uc011caw.1	+	7	863	c.582_582AG>A	c.(580-582)gaafs	p.E194fs		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	194					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)			GCAATGAAGAAGGGGGGGTAA	0.433													-	71503555	G	-	71503555	7	5	195	1	0	1	0	1	0	0	0	0	5112	1000	35	0	609	0	ENAM	4	71503555	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	31213	71503555	119650721	429	107533											
SLC4A4	8671	broad.mit.edu	37	chr4	72338444	72338444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attttgactatttggagtttCgcctttggattggcctgtgg	12	6	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:72338444C>T	uc003hfy.2	+	14	1777	c.1660C>T	c.(1660-1662)CGC>TGC	p.R554C	SLC4A4_uc010iic.2_Missense_Mutation_p.R554C|SLC4A4_uc010iib.2_Missense_Mutation_p.R554C|SLC4A4_uc003hfz.2_Missense_Mutation_p.R554C|SLC4A4_uc003hgc.3_Missense_Mutation_p.R510C|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.R432C|SLC4A4_uc003hgb.3_Missense_Mutation_p.R510C	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	554	Cytoplasmic (Potential).		R -> H (in pRTA-OA; mistargeting and altered function).	R->D: Prevents membrane targeting.		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTGGAGTTTCGCCTTTGGAT	0.408													T	72338444	C	T	72338444	3	4	195	1	0	0	0	0	1	0	0	0	14656	884	31	1	1831	1	SLC4A4	4	72338444	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	834889	72338444	118815832	430	107534											
NAAA	27163	broad.mit.edu	37	chr4	76836121	76836121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctaccggcgctcattaccGtagtataaattgtgaagctg	11	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:76836121G>A	uc003hjb.2	-	10	1080	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M	NAAA_uc003hja.2_Intron	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	339					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						GCTCATTACCGTAGTATAAAT	0.423													A	76836121	G	A	76836121	3	1	195	1	0	0	0	0	1	0	0	0	10127	1145	40	1	74	1	NAAA	4	76836121	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4497677	76836121	114318155	431	107535											
GK2	2712	broad.mit.edu	37	chr4	80329115	80329115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttttatgttggatatatcAatattcagttcgtcaagttt	7	5	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:80329115A>G	uc003hlu.2	-	1	258	c.240T>C	c.(238-240)ATT>ATC	p.I80I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	80					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						TGGATATATCAATATTCAGTT	0.428													G	80329115	A	G	80329115	2	3	195	1	0	0	0	0	0	0	0	1	6421	126	5	3		3	GK2	4	80329115	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	3492994	80329115	110825161	432	107536											
PRDM8	56978	broad.mit.edu	37	chr4	81123201	81123201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagacgaacaaggcggCggcgtgggcaccaaggacca	14	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:81123201C>T	uc010ijo.2	+	8	1424	c.585C>T	c.(583-585)GGC>GGT	p.G195G	PRDM8_uc003hmb.3_Silent_p.G195G|PRDM8_uc003hmc.3_Silent_p.G195G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	195	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AACAAggcggcggcgtgggca	0.343											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	81123201	C	T	81123201	2	4	195	1	0	0	0	0	0	0	0	1	12462	755	27	1		1	PRDM8	4	81123201	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	794086	81123201	110031075	433	107537											
RASGEF1B	153020	broad.mit.edu	37	chr4	82355838	82355838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcggttggcacaaccctcAttgaggaaataaatatcttt	9	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:82355838A>G	uc003hmi.1	-	11	1299	c.1155T>C	c.(1153-1155)AAT>AAC	p.N385N	RASGEF1B_uc003hmj.1_Silent_p.N384N|RASGEF1B_uc010ijq.1_Silent_p.N343N	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	385	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						CACAACCCTCATTGAGGAAAT	0.413													G	82355838	A	G	82355838	2	3	195	1	0	0	0	0	0	0	0	1	13070	214	8	3		3	RASGEF1B	4	82355838	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1232637	82355838	108798438	434	107538											
WDFY3	23001	broad.mit.edu	37	chr4	85609395	85609395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgtggcgcaggtgacGgtatcagtgtggcccagtaa	16	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:85609395G>A	uc003hpd.2	-	62	9795	c.9387C>T	c.(9385-9387)ACC>ACT	p.T3129T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3129	WD 2.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGCAGGTGACGGTATCAGTGT	0.463													A	85609395	G	A	85609395	2	1	195	1	0	0	0	0	0	0	0	1	17267	1103	39	1		1	WDFY3	4	85609395	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3253557	85609395	105544881	435	107539											
WDFY3	23001	broad.mit.edu	37	chr4	85722917	85722917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgcacctctgcagcagtCgtgcatgaagaccagcttca	9	14	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:85722917C>T	uc003hpd.2	-	17	3116	c.2708G>A	c.(2707-2709)CGA>CAA	p.R903Q		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	903						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGCAGCAGTCGTGCATGAAG	0.522													T	85722917	C	T	85722917	3	4	195	1	0	0	0	0	1	0	0	0	17267	884	31	1	8080	1	WDFY3	4	85722917	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	113522	85722917	105431359	436	107540											
WDFY3	23001	broad.mit.edu	37	chr4	85741342	85741342	+	Splice_Site	DEL	A	A	-													tattatttcttgagtcccctAaaaaaaggttcaaaggtcca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:85741341_85741341TA>T	uc003hpd.3	-	12	2000	c.1592_splice	c.e12-1	p.G531_splice	WDFY3_uc003hpf.3_Splice_Site_p.G531_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	531						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)		TTGAGTCCCCTAAAAAAAGGT	0.323													-	85741342	A	-	85741342	8	5	195	1	0	1	0	1	0	0	1	0	17267	377	13	0		0	WDFY3	4	85741342	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	18425	85741342	105412934	437	107541											
C4orf36	132989	broad.mit.edu	37	chr4	87808959	87808959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccggctggcctttccctcAggagaagctgaatttcctta	9	12	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:87808959A>G	uc003hqe.3	-	4	621	c.308T>C	c.(307-309)CTG>CCG	p.L103P		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	103											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		CCTTTCCCTCAGGAGAAGCTG	0.408													G	87808959	A	G	87808959	3	3	195	1	0	0	0	0	1	0	0	0	2266	188	7	3	49	3	C4orf36	4	87808959	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2067617	87808959	103345317	438	107542											
AFF1	4299	broad.mit.edu	37	chr4	87968255	87968255	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgaccgaagagctgacGgagaccactgtgcttcggtg	15	9	0	4	rs148083475		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:87968255G>T	uc003hqj.3	+	3	954	c.547G>T	c.(547-549)GGA>TGA	p.G183*	AFF1_uc011ccx.1_Nonsense_Mutation_p.G124*|AFF1_uc003hqh.1_Nonsense_Mutation_p.G190*|AFF1_uc011ccy.1_Nonsense_Mutation_p.G190*|AFF1_uc011ccz.1_Nonsense_Mutation_p.G190*|AFF1_uc003hqk.3_Nonsense_Mutation_p.G183*|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	183						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGAGCTGACGGAGACCACTG	0.567													T	87968255	G	T	87968255	4	4	195	1	0	0	0	0	0	1	0	0	356	1117	39	5	599	5	AFF1	4	87968255	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	159296	87968255	103186021	439	107543											
MMRN1	22915	broad.mit.edu	37	chr4	90830464	90830464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacataccaggttatctcccAcagtgatattggacaaccag	7	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:90830464A>G	uc003hst.2	+	2	732	c.661A>G	c.(661-663)ACA>GCA	p.T221A	MMRN1_uc010iku.2_Missense_Mutation_p.T187A|MMRN1_uc011cds.1_5'UTR	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	221	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTTATCTCCCACAGTGATATT	0.403													G	90830464	A	G	90830464	3	3	195	1	0	0	0	0	1	0	0	0	9670	159	6	3	667	3	MMRN1	4	90830464	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2862209	90830464	100323812	440	107544											
SMARCAD1	56916	broad.mit.edu	37	chr4	95199819	95199819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattgagttgtgtgcaatgtCggagaagcaggagcaactct	13	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:95199819C>T	uc003htc.3	+	18	2486	c.2231C>T	c.(2230-2232)TCG>TTG	p.S744L	SMARCAD1_uc003htb.3_Missense_Mutation_p.S744L|SMARCAD1_uc003htd.3_Missense_Mutation_p.S744L|SMARCAD1_uc010ila.2_Missense_Mutation_p.S607L|SMARCAD1_uc011cdw.1_Missense_Mutation_p.S314L	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	744					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			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGTGCAATGTCGGAGAAGCAG	0.343													T	95199819	C	T	95199819	3	4	195	1	0	0	0	0	1	0	0	0	14772	893	31	1	2297	1	SMARCAD1	4	95199819	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4369355	95199819	95954457	441	107545											
METAP1	23173	broad.mit.edu	37	chr4	99962266	99962266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactgaagaaatagatcacGctgtacacttagtaagaact	7	8	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:99962266G>A	uc003huf.3	+	6	622	c.505G>A	c.(505-507)GCT>ACT	p.A169T	METAP1_uc003hug.2_RNA	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	169					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AATAGATCACGCTGTACACTT	0.333													A	99962266	G	A	99962266	3	1	195	1	0	0	0	0	1	0	0	0	9486	1087	38	1	527	1	METAP1	4	99962266	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4762447	99962266	91192010	442	107546											
BANK1	55024	broad.mit.edu	37	chr4	102946605	102946605	+	Frame_Shift_Del	DEL	C	C	-													atgagcagcagacctcctctCcccccgccgcgacctgtagc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:102946604_102946604TC>T	uc003hvy.4	+	8	1806	c.1532_1532TC>T	c.(1531-1533)ctcfs	p.L511fs	BANK1_uc003hvx.4_Frame_Shift_Del_p.L496fs|BANK1_uc010ill.3_Frame_Shift_Del_p.L378fs|BANK1_uc003hvz.4_Frame_Shift_Del_p.L481fs	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	511					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)		AGACCTCCTCTCCCCCCGCCG	0.448													-	102946605	C	-	102946605	7	5	195	1	0	1	0	1	0	0	0	0	1309	842	30	0	1567	0	BANK1	4	102946605	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	2984339	102946605	88207671	443	107547											
NPNT	255743	broad.mit.edu	37	chr4	106863655	106863655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagccaacaacaagacctAcaccaaagccaacaccaatt	3	15	0	1	rs144959760	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:106863655A>G	uc003hya.2	+	8	1160	c.955A>G	c.(955-957)ACA>GCA	p.T319A	NPNT_uc011cfc.1_Missense_Mutation_p.T336A|NPNT_uc011cfd.1_Missense_Mutation_p.T349A|NPNT_uc011cfe.1_Missense_Mutation_p.T349A|NPNT_uc010ilt.1_Missense_Mutation_p.T319A|NPNT_uc011cff.1_Missense_Mutation_p.T319A|NPNT_uc010ilu.1_Missense_Mutation_p.T215A	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	319	Pro-rich.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AACAAGACCTACACCAAAGCC	0.502													G	106863655	A	G	106863655	3	3	195	1	0	0	0	0	1	0	0	0	10590	391	14	3	1134	3	NPNT	4	106863655	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	3917050	106863655	84290621	444	107548											
AGXT2L1	64850	broad.mit.edu	37	chr4	109675791	109675792	+	Frame_Shift_Ins	INS	-	-	T													ttaccacatgtacaaattctINStttttgacatcttttccttt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:109675790_109675791C>CT	uc003hzc.3	-	4	667_668	c.486_487G>AG	c.(484-489)aaagaafs	p.K162fs	AGXT2L1_uc010imc.3_Frame_Shift_Ins_p.K156fs|AGXT2L1_uc011cfm.2_Frame_Shift_Ins_p.K122fs|AGXT2L1_uc011cfn.2_Frame_Shift_Ins_p.K89fs|AGXT2L1_uc011cfo.2_Frame_Shift_Ins_p.K104fs	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	162					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TGTACAAATTCTTTTTTGACAT	0.337													T	109675792	-	T	109675791	7	5	195	1	0	1	1	0	0	0	0	0	406	1606	56	0	1049	0	AGXT2L1	4	109675791	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	2812136	109675791	81478485	445	107549											
ENPEP	2028	broad.mit.edu	37	chr4	111397859	111397859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttcgactgccggacttcGtcaacccagtccactacgac	7	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:111397859G>A	uc003iab.3	+	1	631	c.289G>A	c.(289-291)GTC>ATC	p.V97I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	97	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCCGGACTTCGTCAACCCAGT	0.627													A	111397859	G	A	111397859	3	1	195	1	0	0	0	0	1	0	0	0	5128	1145	40	1	291	1	ENPEP	4	111397859	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1722068	111397859	79756417	446	107550											
ALPK1	80216	broad.mit.edu	37	chr4	113352135	113352136	+	Frame_Shift_Ins	INS	-	-	A													aagtgattgtggaaacaacaINSaaaatgaacagaaagatgca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:113352134_113352135C>CA	uc003ian.4	+	10	1658_1659	c.1431_1432C>CA	c.(1429-1434)aacaaafs	p.N477fs	ALPK1_uc003iap.4_Frame_Shift_Ins_p.N477fs|ALPK1_uc011cfx.2_Frame_Shift_Ins_p.N399fs|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Frame_Shift_Ins_p.N305fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	477							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)		GTGGAAACAACAAAAATGAACA	0.371													A	113352136	-	A	113352135	7	5	195	1	0	1	1	0	0	0	0	0	544	131	5	0	1466	0	ALPK1	4	113352135	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1954276	113352135	77802141	447	107551											
ANK2	287	broad.mit.edu	37	chr4	114294543	114294543	+	Frame_Shift_Del	DEL	G	G	-													aacctgtcaacatcgaggaaGgggatggctattccaaagtt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:114294542_114294542AG>A	uc003ibe.4	+	44	11896	c.11796_11796AG>A	c.(11794-11796)gaafs	p.E3932fs	ANK2_uc003ibd.4_Frame_Shift_Del_p.E1838fs|ANK2_uc003ibf.4_Frame_Shift_Del_p.E1847fs|ANK2_uc011cgc.2_Frame_Shift_Del_p.E1023fs|ANK2_uc003ibg.4_Frame_Shift_Del_p.E862fs|ANK2_uc003ibh.4_Frame_Shift_Del_p.E552fs|ANK2_uc010ims.3_Frame_Shift_Del_p.E14fs|ANK2_uc010imr.3_Frame_Shift_Del_p.E14fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3899					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)		ACATCGAGGAAGGGGATGGCT	0.443													-	114294543	G	-	114294543	7	5	195	1	0	1	0	1	0	0	0	0	621	1000	35	0	12040	0	ANK2	4	114294543	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	942408	114294543	76859733	448	107552											
NDST3	9348	broad.mit.edu	37	chr4	118975701	118975701	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttccaagcttgaaaaAggttctttacctggaactga	7	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:118975701A>G	uc003ibx.2	+	2	1039	c.636A>G	c.(634-636)AAA>AAG	p.K212K	NDST3_uc011cgf.1_Silent_p.K212K|NDST3_uc003ibw.2_Silent_p.K212K	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	212	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						AGCTTGAAAAAGGTTCTTTAC	0.363													G	118975701	A	G	118975701	2	3	195	1	0	0	0	0	0	0	0	1	10257	69	3	3		3	NDST3	4	118975701	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	4681158	118975701	72178575	449	107553											
PRSS12	8492	broad.mit.edu	37	chr4	119237471	119237471	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccacctgcaagtctgatGaccccatctgtgataaagag	8	12	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:119237471G>A	uc003ica.1	-	6	1205	c.1158C>T	c.(1156-1158)GTC>GTT	p.V386V		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	386						membrane	scavenger receptor activity			skin(1)	1						CAAGTCTGATGACCCCATCTG	0.443													A	119237471	G	A	119237471	2	1	195	1	0	0	0	0	0	0	0	1	12615	1277	45	4		4	PRSS12	4	119237471	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	261770	119237471	71916805	450	107554											
EXOSC9	5393	broad.mit.edu	37	chr4	122731160	122731160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaatgaacgagaagaacGtgtgatggatggcttgctgg	14	7	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:122731160G>A	uc003iea.2	+	7	752	c.644G>A	c.(643-645)CGT>CAT	p.R215H	EXOSC9_uc003idz.2_Missense_Mutation_p.R215H|EXOSC9_uc003ieb.2_Missense_Mutation_p.R199H|EXOSC9_uc010inp.1_RNA	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	215	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						CGAGAAGAACGTGTGATGGAT	0.403													A	122731160	G	A	122731160	3	1	195	1	0	0	0	0	1	0	0	0	5321	1145	40	1	670	1	EXOSC9	4	122731160	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3493689	122731160	68423116	451	107555											
KIAA1109	84162	broad.mit.edu	37	chr4	123171679	123171679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataatcttccatgtgaccGgacaagcccttcctcagact	7	13	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:123171679G>A	uc003ieh.2	+	35	5918	c.5873G>A	c.(5872-5874)CGG>CAG	p.R1958Q	KIAA1109_uc003iek.2_Missense_Mutation_p.R577Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1958					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CCATGTGACCGGACAAGCCCT	0.383													A	123171679	G	A	123171679	3	1	195	1	0	0	0	0	1	0	0	0	8208	1116	39	1	6011	1	KIAA1109	4	123171679	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	440519	123171679	67982597	452	107556											
FAT4	79633	broad.mit.edu	37	chr4	126328095	126328095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatgatagttttcgcatcGacccagaatccggagatctg	10	10	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:126328095G>A	uc003ifj.3	+	3	5368	c.5368G>A	c.(5368-5370)GAC>AAC	p.D1790N	FAT4_uc011cgp.1_Missense_Mutation_p.D88N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1790	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTTCGCATCGACCCAGAATC	0.473													A	126328095	G	A	126328095	3	1	195	1	0	0	0	0	1	0	0	0	5692	1058	37	1	5378	1	FAT4	4	126328095	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3156416	126328095	64826181	453	107557											
SCLT1	132320	broad.mit.edu	37	chr4	129924995	129924995	+	Frame_Shift_Del	DEL	T	T	-													cccaggggaaaggcctccaaTtttttttcaacagcatcttt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:129924994_129924994AT>A	uc003igp.2	-	5	834	c.328_328AT>T	c.(328-330)ttgfs	p.L110fs	SCLT1_uc003igq.2_Frame_Shift_Del_p.L110fs|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	110						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCA	0.383													-	129924995	T	-	129924995	7	5	195	1	0	1	0	1	0	0	0	0	13906	1490	52	0	1803	0	SCLT1	4	129924995	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	3596900	129924995	61229281	454	107558											
PCDH10	57575	broad.mit.edu	37	chr4	134071649	134071650	+	Frame_Shift_Ins	INS	-	-	C													tgctggacattaatgacaacINScccccctctttcccggagcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:134071648_134071649A>AC	uc003iha.3	+	0	1179_1180	c.353_354A>AC	c.(352-354)aacfs	p.N118fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.N118fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(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)		ATTAATGACAACCCCCCCTCTT	0.604													C	134071650	-	C	134071649	7	5	195	1	0	1	1	0	0	0	0	0	11507	506	18	0	356	0	PCDH10	4	134071649	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	4146654	134071649	57082627	455	107559											
PCDH10	57575	broad.mit.edu	37	chr4	134072881	134072881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctacttgtacgccctgcGctccttcgactatgagcagc	10	15	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:134072881G>A	uc003iha.2	+	1	2412	c.1586G>A	c.(1585-1587)CGC>CAC	p.R529H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R529H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	529	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TACGCCCTGCGCTCCTTCGAC	0.577													A	134072881	G	A	134072881	3	1	195	1	0	0	0	0	1	0	0	0	11507	1087	38	1	1588	1	PCDH10	4	134072881	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1232	134072881	57081395	456	107560											
NAA15	80155	broad.mit.edu	37	chr4	140275179	140275179	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtgtgtttgtactctaGgtggcaatcatagaagagtt	12	4	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:140275179G>T	uc003ihu.1	+	10	1271	c.1015_splice	c.e10-1	p.V339_splice		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						TTGTACTCTAGGTGGCAATCA	0.313													T	140275179	G	T	140275179	5	4	195	1	0	0	0	0	0	0	1	0	10118	1014	35	5	1052	5	NAA15	4	140275179	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6202298	140275179	50879097	457	107561											
SMARCA5	8467	broad.mit.edu	37	chr4	144469153	144469155	+	In_Frame_Del	DEL	GAA	GAA	-													acaaaggaaaaaactatactGaagaagaagatcgttttctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:144469152_144469154TGAA>T	uc003ijg.3	+	21	3306_3308	c.2844_2846TGAA>T	c.(2842-2847)actgaa>acTa	p.E951del		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	951	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	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)					AAAACTATACTGAAGAAGAAGAT	0.33													-	144469155	GAA	-	144469153	7	5	195	1	0	1	0	1	0	0	0	0	14771	1291	45	0	2931	0	SMARCA5	4	144469153	In_Frame_Del	DEL	GAA	TCGA-CG-5728-01A-11D-1600-08	4193974	144469153	46685123	458	107562											
HHIP	64399	broad.mit.edu	37	chr4	145658978	145658978	+	Frame_Shift_Del	DEL	A	A	-													gaccgaacaagtgcctctgtAaaaaaggatatcttggtcct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:145658977_145658977TA>T	uc003ijs.2	+	12	2651	c.1971_1971TA>T	c.(1969-1971)tgtfs	p.C657fs		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	657	EGF-like 2.					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)		AGTGCCTCTGTAAAAAAGGAT	0.448													-	145658978	A	-	145658978	7	5	195	1	0	1	0	1	0	0	0	0	7092	363	13	0	2022	0	HHIP	4	145658978	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1189825	145658978	45495298	459	107563											
ARHGAP10	79658	broad.mit.edu	37	chr4	148984398	148984398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctctttcacccgggtcGtcccctttccccttttctcc	4	20	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:148984398G>A	uc003ilf.2	+	21	2127	c.2127G>A	c.(2125-2127)TCG>TCA	p.S709S	ARHGAP10_uc003ilg.2_Intron|ARHGAP10_uc003ilh.2_Silent_p.S290S|ARHGAP10_uc003ili.2_Silent_p.S142S	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	709					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CACCCGGGTCGTCCCCTTTCC	0.557													A	148984398	G	A	148984398	2	1	195	1	0	0	0	0	0	0	0	1	862	1132	40	1		1	ARHGAP10	4	148984398	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3325420	148984398	42169878	460	107564											
DCLK2	166614	broad.mit.edu	37	chr4	151169505	151169505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgaagctcggtgtaccGcgggacaaatcctgagtcac	12	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:151169505G>A	uc003ilm.3	+	14	2024	c.1924G>A	c.(1924-1926)GCG>ACG	p.A642T	DCLK2_uc003iln.3_Missense_Mutation_p.A641T|DCLK2_uc003ilo.3_Missense_Mutation_p.A659T|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	642	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					TCGGTGTACCGCGGGACAAAT	0.493													A	151169505	G	A	151169505	3	1	195	1	0	0	0	0	1	0	0	0	4292	1087	38	1	1978	1	DCLK2	4	151169505	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2185107	151169505	39984771	461	107565											
FBXW7	55294	broad.mit.edu	37	chr4	153244115	153244116	+	Frame_Shift_Ins	INS	-	-	T													cccaactgcacacaccagctINSttgtgtttgaggctctgatc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:153244114_153244115C>CT	uc003ims.3	-	11	2204_2205	c.2042_2043G>AG	c.(2041-2043)aagfs	p.K681fs	FBXW7_uc011cii.2_Frame_Shift_Ins_p.K681fs|FBXW7_uc003imt.3_Frame_Shift_Ins_p.K681fs|FBXW7_uc011cih.2_Frame_Shift_Ins_p.K505fs|FBXW7_uc003imq.3_Frame_Shift_Ins_p.K601fs|FBXW7_uc003imr.3_Frame_Shift_Ins_p.K563fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	681					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	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)				CACACACCAGCTTTGTGTTTGA	0.49			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								T	153244116	-	T	153244115	7	5	195	1	0	1	1	0	0	0	0	0	5769	1609	56	0	85	0	FBXW7	4	153244115	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	2074610	153244115	37910161	462	107566											
TIGD4	201798	broad.mit.edu	37	chr4	153691221	153691221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagctatacatttggaAgataaacatgatggaaagaa	8	4	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:153691221A>G	uc003imy.2	-	2	1718	c.936T>C	c.(934-936)TCT>TCC	p.S312S		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	312	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					TACATTTGGAAGATAAACATG	0.343													G	153691221	A	G	153691221	2	3	195	1	0	0	0	0	0	0	0	1	15895	59	3	3		3	TIGD4	4	153691221	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	447106	153691221	37463055	463	107567											
FGB	2244	broad.mit.edu	37	chr4	155488796	155488797	+	Frame_Shift_Del	DEL	TA	TA	-													agaactggaaaagcaccaatTatatatagatgagactgtga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:155488795_155488796TTA>T	uc003ioa.4	+	3	580_581	c.541_542TTA>T	c.(541-543)ttafs	p.L181fs	FGB_uc010ipv.3_Frame_Shift_Del_p.L122fs	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	181					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	p.Q180Q(1)		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)	AAAGCACCAATTATATATAGAT	0.332													-	155488797	TA	-	155488796	7	5	195	1	0	1	0	1	0	0	0	0	5831	1764	61	0	556	0	FGB	4	155488796	Frame_Shift_Del	DEL	TA	TCGA-CG-5728-01A-11D-1600-08	1797575	155488796	35665480	464	107568											
GRIA2	2891	broad.mit.edu	37	chr4	158224771	158224771	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacaagaagtctgtaaatacCatcacatcattttgcggaac	7	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:158224771C>A	uc003ipm.3	+	3	756	c.297C>A	c.(295-297)ACC>ACA	p.T99T	GRIA2_uc011cit.1_Silent_p.T52T|GRIA2_uc003ipl.3_Silent_p.T99T|GRIA2_uc003ipk.3_Silent_p.T52T|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	99	Extracellular (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGTAAATACCATCACATCAT	0.418													A	158224771	C	A	158224771	2	1	195	1	0	0	0	0	0	0	0	1	6768	581	21	5		5	GRIA2	4	158224771	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2735975	158224771	32929505	465	107569											
SPOCK3	50859	broad.mit.edu	37	chr4	167921617	167921617	+	Splice_Site	DEL	A	A	-													ccttagctggatctaaagctAaaaaaattgcaaagaaaata							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:167921616_167921616TA>T	uc011cjq.1	-	3	329	c.272_splice	c.e3-1	p.A91_splice	SPOCK3_uc021xuf.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Splice_Site_p.A82_splice|SPOCK3_uc011cjs.1_Splice_Site_p.A31_splice|SPOCK3_uc003irj.1_Splice_Site_p.A79_splice|SPOCK3_uc011cjt.1_Splice_Site|SPOCK3_uc011cjp.2_Splice_Site_p.A79_splice|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Splice_Site_p.A79_splice|SPOCK3_uc011cjw.1_Splice_Site	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	82					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)		GATCTAAAGCTAAAAAAATTG	0.338													-	167921617	A	-	167921617	8	5	195	1	0	1	0	1	0	0	1	0	15080	377	13	0		0	SPOCK3	4	167921617	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	9696846	167921617	23232659	466	107570											
DDX60	55601	broad.mit.edu	37	chr4	169182016	169182016	+	Splice_Site	DEL	A	A	-													aattaaattaaataacttacAaaaaaaatagtgcaggtaac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:169182015_169182015CA>C	uc003irp.3	-	25	3690	c.3398_splice	c.e25+1	p.L1133_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1133							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)		AAATAACTTACAAAAAAAATA	0.388													-	169182016	A	-	169182016	8	5	195	1	0	1	0	1	0	0	1	0	4378	144	5	0	1796	0	DDX60	4	169182016	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1260399	169182016	21972260	467	107571											
ODZ3	55714	broad.mit.edu	37	chr4	183714567	183714567	+	Frame_Shift_Del	DEL	T	T	-													gtctaggacagcacctgcagTttttttatgctgacttaact							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:183714566_183714566GT>G	uc003ivd.1	+	24	6816	c.6741_6741GT>G	c.(6739-6741)cagfs	p.Q2247fs		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2247					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGCACCTGCAGTTTTTTTATG	0.448													-	183714567	T	-	183714567	7	5	195	1	0	1	0	1	0	0	0	0	10836	1725	60	0	6840	0	ODZ3	4	183714567	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	14532551	183714567	7439709	468	107572											
WWC2	80014	broad.mit.edu	37	chr4	184166576	184166576	+	Frame_Shift_Del	DEL	A	A	-													tctcttttcacagaattgatAaaaaaatgtctggaggccag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:184166575_184166575TA>T	uc010irx.3	+	5	791	c.609_609TA>T	c.(607-609)gatfs	p.D203fs	WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	203										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)		ACAGAATTGATAAAAAAATGT	0.358													-	184166576	A	-	184166576	7	5	195	1	0	1	0	1	0	0	0	0	17409	363	13	0	632	0	WWC2	4	184166576	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	452009	184166576	6987700	469	107573											
CCDC111	201973	broad.mit.edu	37	chr4	185599425	185599425	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaactttcggctatataaatCatcaaaaattggaaagcgtg	7	6	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr4:185599425C>A	uc003iwk.2	+	8	1317	c.884C>A	c.(883-885)TCA>TAA	p.S295*	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Nonsense_Mutation_p.S295*|CCDC111_uc003iwl.2_Nonsense_Mutation_p.S295*|CCDC111_uc003iwm.2_Nonsense_Mutation_p.S166*|CCDC111_uc003iwn.2_Intron	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	295					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		CTATATAAATCATCAAAAATT	0.289													A	185599425	C	A	185599425	4	1	195	1	0	0	0	0	0	1	0	0	2748	838	29	5	906	5	CCDC111	4	185599425	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1432849	185599425	5554851	470	107574											
TRIP13	9319	broad.mit.edu	37	chr5	908507	908507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgaaatgcctgcagggCgggcaccgagccatcagatg	14	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:908507C>T	uc003jbr.2	+	9	907	c.797C>T	c.(796-798)GCG>GTG	p.A266V	TRIP13_uc010ite.1_Missense_Mutation_p.A266V	NM_004237	NP_004228	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	266					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCTGCAGGGCGGGCACCGAG	0.562													T	908507	C	T	908507	3	4	195	1	0	0	0	0	1	0	0	0	16554	768	27	1	831	1	TRIP13	5	908507	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08		908507	180006753	471	107575											
IRX4	50805	broad.mit.edu	37	chr5	1879766	1879766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcttgaggcgccggcgCgcgttggcgaaccaggtgga	16	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:1879766C>T	uc003jcz.2	-	4	707	c.588G>A	c.(586-588)GCG>GCA	p.A196A	IRX4_uc011cmf.1_Silent_p.A57A	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	196	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		GGCGCCGGCGCGCGTTGGCGA	0.552													T	1879766	C	T	1879766	2	4	195	1	0	0	0	0	0	0	0	1	7846	755	27	1		1	IRX4	5	1879766	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	971259	1879766	179035494	472	107576											
CCT5	22948	broad.mit.edu	37	chr5	10264815	10264815	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgattggcaaaaagcaaCagatatctcttgcaacacaa	6	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:10264815C>T	uc003jeq.2	+	11	1717	c.1546C>T	c.(1546-1548)CAG>TAG	p.Q516*	CCT5_uc003jer.2_3'UTR|CCT5_uc010its.2_3'UTR|CCT5_uc011cmr.1_Nonsense_Mutation_p.Q461*|CCT5_uc011cms.1_Nonsense_Mutation_p.Q478*|CCT5_uc011cmt.1_Nonsense_Mutation_p.Q423*	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	516					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						CAAAAAGCAACAGATATCTCT	0.333													T	10264815	C	T	10264815	4	4	195	1	0	0	0	0	0	1	0	0	2956	479	17	4	1588	4	CCT5	5	10264815	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	8385049	10264815	170650445	473	107577											
DNAH5	1767	broad.mit.edu	37	chr5	13786321	13786321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatggcatctgcaaagaaCaccatgtccatgccggcgcc	9	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:13786321C>T	uc003jfd.2	-	52	8829	c.8787G>A	c.(8785-8787)GTG>GTA	p.V2929V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2929	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTGCAAAGAACACCATGTCCA	0.473									Kartagener_syndrome				T	13786321	C	T	13786321	2	4	195	1	0	0	0	0	0	0	0	1	4604	465	17	4		4	DNAH5	5	13786321	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3521506	13786321	167128939	474	107578											
TRIO	7204	broad.mit.edu	37	chr5	14419959	14419959	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaacgagctgaccatcCgacggggccagaccgtggaa	13	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:14419959C>T	uc003jff.2	+	34	5038	c.5032C>T	c.(5032-5034)CGA>TGA	p.R1678*	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Nonsense_Mutation_p.R1327*	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1678	SH3 1.				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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GCTGACCATCCGACGGGGCCA	0.617													T	14419959	C	T	14419959	4	4	195	1	0	0	0	0	0	1	0	0	16549	644	23	1	5166	1	TRIO	5	14419959	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	633638	14419959	166495301	475	107579											
BASP1	10409	broad.mit.edu	37	chr5	17275415	17275415	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaggccgagggcgcggcGacggaagaggaggggacccc	20	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:17275415G>A	uc003jfx.2	+	2	269	c.90G>A	c.(88-90)GCG>GCA	p.A30A		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	30					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						AGGGCGCGGCGACGGAAGAGG	0.632													A	17275415	G	A	17275415	2	1	195	1	0	0	0	0	0	0	0	1	1317	1045	37	1		1	BASP1	5	17275415	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2855456	17275415	163639845	476	107580											
CDH18	1016	broad.mit.edu	37	chr5	19591227	19591227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagattgagaatattcccAtgccatcaccatttatgatg	8	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:19591227A>G	uc003jgc.2	-	6	1315	c.938T>C	c.(937-939)ATG>ACG	p.M313T	CDH18_uc003jgd.2_Missense_Mutation_p.M313T|CDH18_uc011cnm.1_Missense_Mutation_p.M313T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	313	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAATATTCCCATGCCATCACC	0.408													G	19591227	A	G	19591227	3	3	195	1	0	0	0	0	1	0	0	0	3103	217	8	3	1462	3	CDH18	5	19591227	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2315812	19591227	161324033	477	107581											
CDH12	1010	broad.mit.edu	37	chr5	21842351	21842351	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggctaatcctccaagctGtcctcccatatccttggctt	6	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:21842351G>A	uc010iuc.2	-	5	1191	c.733C>T	c.(733-735)CAG>TAG	p.Q245*	CDH12_uc011cno.1_Nonsense_Mutation_p.Q205*|CDH12_uc003jgk.2_Nonsense_Mutation_p.Q245*	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	245	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCTCCAAGCTGTCCTCCCATA	0.423										HNSCC(59;0.17)			A	21842351	G	A	21842351	4	1	195	1	0	0	0	0	0	1	0	0	3098	1386	48	4	1683	4	CDH12	5	21842351	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2251124	21842351	159072909	478	107582											
RNASEN	29102	broad.mit.edu	37	chr5	31526774	31526774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggggaagagggccttgcGctgacggaggcatgggtggg	23	6	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:31526774G>A	uc003jhg.2	-	4	625	c.266C>T	c.(265-267)GCG>GTG	p.A89V	RNASEN_uc003jhh.2_Missense_Mutation_p.A89V|RNASEN_uc003jhi.2_Missense_Mutation_p.A89V|RNASEN_uc010iui.1_Missense_Mutation_p.A80V	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	89	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AGGGCCTTGCGCTGACGGAGG	0.602													A	31526774	G	A	31526774	3	1	195	1	0	0	0	0	1	0	0	0	13417	1087	38	1	3986	1	RNASEN	5	31526774	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	9684423	31526774	149388486	479	107583											
PDZD2	23037	broad.mit.edu	37	chr5	32058117	32058117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagtgggggagcctcagCgggaggttccgatgaaggca	17	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:32058117C>T	uc003jhl.2	+	12	2496	c.2108C>T	c.(2107-2109)GCG>GTG	p.A703V	PDZD2_uc003jhm.2_Missense_Mutation_p.A703V|PDZD2_uc011cnx.1_Missense_Mutation_p.A529V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	703					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGAGCCTCAGCGGGAGGTTCC	0.582													T	32058117	C	T	32058117	3	4	195	1	0	0	0	0	1	0	0	0	11701	768	27	1	2150	1	PDZD2	5	32058117	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	531343	32058117	148857143	480	107584											
AMACR	23600	broad.mit.edu	37	chr5	33989221	33989221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagactagcttttaccttatTactttcaatgattttatctg	5	7	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:33989221T>C	uc003jig.2	-	5	1208	c.1126A>G	c.(1126-1128)AAT>GAT	p.N376D	AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.N361D|AMACR_uc003jij.2_Missense_Mutation_p.N376D	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	376					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						TTTACCTTATTACTTTCAATG	0.383													C	33989221	T	C	33989221	3	2	195	1	0	0	0	0	1	0	0	0	562	1754	61	3	84	3	AMACR	5	33989221	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1931104	33989221	146926039	481	107585											
C1QTNF3	114899	broad.mit.edu	37	chr5	34033499	34033499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaggtcacctttgtcGcccttctcacctttggctcc	8	18	2	0	rs147942281	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:34033499G>A	uc003jin.2	-	3	348	c.261C>T	c.(259-261)GGC>GGT	p.G87G	C1QTNF3_uc003jio.2_Silent_p.G160G	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	87	Collagen-like.					collagen					0	all_lung(31;0.0207)					CACCTTTGTCGCCCTTCTCAC	0.542													A	34033499	G	A	34033499	2	1	195	1	0	0	0	0	0	0	0	1	1964	1074	38	1		1	C1QTNF3	5	34033499	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	44278	34033499	146881761	482	107586											
NIPBL	25836	broad.mit.edu	37	chr5	37000602	37000602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagttcaggtggtggTcgttatcgaaaccgaagtcc	14	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:37000602T>C	uc003jkl.3	+	12	3931	c.3432T>C	c.(3430-3432)GGT>GGC	p.G1144G	NIPBL_uc003jkk.3_Silent_p.G1144G	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1144					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			CAGGTGGTGGTCGTTATCGAA	0.463													C	37000602	T	C	37000602	2	2	195	1	0	0	0	0	0	0	0	1	10428	1654	58	3		3	NIPBL	5	37000602	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2967103	37000602	143914658	483	107587											
C5orf42	65250	broad.mit.edu	37	chr5	37196010	37196010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtctccagctgctccaGgtctaaaaaatgcgatacct	9	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:37196010G>C	uc011cpa.1	-	21	3992	c.3761C>G	c.(3760-3762)CCT>CGT	p.P1254R	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.P329R|C5orf42_uc011cpb.1_Missense_Mutation_p.P135R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1254										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGCTGCTCCAGGTCTAAAAAA	0.378													C	37196010	G	C	37196010	3	2	195	1	0	0	0	0	1	0	0	0	2301	1000	35	5	5960	5	C5orf42	5	37196010	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	195408	37196010	143719250	484	107588											
NUP155	9631	broad.mit.edu	37	chr5	37350336	37350336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgagtggtttattttcCtacatctttggctaaaccac	6	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:37350336C>T	uc003jku.1	-	7	873	c.755G>A	c.(754-756)AGG>AAG	p.R252K	NUP155_uc003jkt.1_Missense_Mutation_p.R193K|NUP155_uc010iuz.1_Missense_Mutation_p.R252K	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	252					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			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTATTTTCCTACATCTTTG	0.358													T	37350336	C	T	37350336	3	4	195	1	0	0	0	0	1	0	0	0	10756	681	24	4	3536	4	NUP155	5	37350336	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	154326	37350336	143564924	485	107589											
GDNF	2668	broad.mit.edu	37	chr5	37815867	37815867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcaacatgcctgcccTactttgtcactcaccagcct	7	16	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:37815867T>C	uc011cpi.1	-	3	722	c.522A>G	c.(520-522)GTA>GTG	p.V174V	GDNF_uc011cpc.1_Silent_p.V96V|GDNF_uc011cpd.1_Silent_p.V122V|GDNF_uc011cpe.1_Silent_p.V148V|GDNF_uc011cpf.1_Silent_p.V148V|GDNF_uc011cpg.1_Silent_p.V191V|GDNF_uc011cph.1_Silent_p.V165V	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	174					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					ATGCCTGCCCTACTTTGTCAC	0.428													C	37815867	T	C	37815867	2	2	195	1	0	0	0	0	0	0	0	1	6322	1509	53	3		3	GDNF	5	37815867	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	465531	37815867	143099393	486	107590											
C6	729	broad.mit.edu	37	chr5	41149542	41149542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtgaagtaaagtaatcGttggagtctgtgtcaaacac	13	6	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:41149542G>A	uc003jmk.2	-	17	2634	c.2424C>T	c.(2422-2424)AAC>AAT	p.N808N	C6_uc003jml.1_Silent_p.N808N	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	808	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			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAAAGTAATCGTTGGAGTCTG	0.423													A	41149542	G	A	41149542	2	1	195	1	0	0	0	0	0	0	0	1	2315	1136	40	1		1	C6	5	41149542	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3333675	41149542	139765718	487	107591											
GPBP1	65056	broad.mit.edu	37	chr5	56527097	56527097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatacctgacaatgaaacCgggaggaaagaagacaagag	11	7	0	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:56527097C>T	uc003jrh.3	+	5	1634	c.360C>T	c.(358-360)ACC>ACT	p.T120T	GPBP1_uc010iwg.2_Silent_p.T120T|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.T127T|GPBP1_uc003jrk.3_Silent_p.T127T|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ACAATGAAACCGGGAGGAAAG	0.393													T	56527097	C	T	56527097	2	4	195	1	0	0	0	0	0	0	0	1	6595	639	23	1		1	GPBP1	5	56527097	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	15377555	56527097	124388163	488	107592											
GPBP1	65056	broad.mit.edu	37	chr5	56546783	56546783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactctctaaaaatcaggaTgacgactcatttaatttaca	4	8	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:56546783T>C	uc003jrh.3	+	10	2249	c.975T>C	c.(973-975)GAT>GAC	p.D325D	GPBP1_uc010iwg.2_Silent_p.D345D|GPBP1_uc003jri.3_Silent_p.D154D|GPBP1_uc003jrj.3_Silent_p.D317D|GPBP1_uc003jrk.3_Silent_p.D332D|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAAATCAGGATGACGACTCAT	0.294													C	56546783	T	C	56546783	2	2	195	1	0	0	0	0	0	0	0	1	6595	1461	51	3		3	GPBP1	5	56546783	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	19686	56546783	124368477	489	107593											
HTR1A	3350	broad.mit.edu	37	chr5	63256803	63256803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacactcttcttgggctgCggggcgggagatgctccatg	14	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:63256803C>T	uc011cqt.1	-	1	744	c.744G>A	c.(742-744)CCG>CCA	p.P248P		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	248	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		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)	TCTTGGGCTGCGGGGCGGGAG	0.642													T	63256803	C	T	63256803	2	4	195	1	0	0	0	0	0	0	0	1	7436	755	27	1		1	HTR1A	5	63256803	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6710020	63256803	117658457	490	107594											
TRIM23	373	broad.mit.edu	37	chr5	64910016	64910016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagctccaataaagcaaaaTtttttttcaatccccagaca	3	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:64910016T>A	uc003jty.2	-	3	361	c.275A>T	c.(274-276)AAT>ATT	p.N92I	TRIM23_uc003jtw.2_Missense_Mutation_p.N92I|TRIM23_uc003jtx.2_Missense_Mutation_p.N92I	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	92					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			ovary(3)|lung(1)	4		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)		TAAAGCAAAATTTTTTTTCAA	0.358													A	64910016	T	A	64910016	3	1	195	1	0	0	0	0	1	0	0	0	16494	1493	52	5	1552	5	TRIM23	5	64910016	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1653213	64910016	116005244	491	107595											
ERBB2IP	55914	broad.mit.edu	37	chr5	65320250	65320250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctattatcaagcaaTtcacttcagcagcttcctga	5	13	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:65320250T>G	uc003juk.1	+	10	1097	c.789T>G	c.(787-789)AAT>AAG	p.N263K	ERBB2IP_uc003juh.1_Missense_Mutation_p.N263K|ERBB2IP_uc003jui.1_Missense_Mutation_p.N263K|ERBB2IP_uc003juj.1_Missense_Mutation_p.N263K|ERBB2IP_uc011cqx.1_Missense_Mutation_p.N263K|ERBB2IP_uc011cqy.1_Missense_Mutation_p.N263K|ERBB2IP_uc011cqz.1_Missense_Mutation_p.N263K|ERBB2IP_uc010iwx.1_Missense_Mutation_p.N263K|ERBB2IP_uc003jul.1_Missense_Mutation_p.N263K	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	263	LRR 11.				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			ovary(3)|lung(2)|central_nervous_system(2)	7		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)		TATCAAGCAATTCACTTCAGC	0.303													G	65320250	T	G	65320250	3	3	195	1	0	0	0	0	1	0	0	0	5207	1490	52	5	819	5	ERBB2IP	5	65320250	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	410234	65320250	115595010	492	107596											
MAST4	375449	broad.mit.edu	37	chr5	66448592	66448592	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgccagtccacatcagccGattgtgatccacagttcggg	10	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:66448592G>A	uc003jut.1	+	24	2924	c.2856G>A	c.(2854-2856)CCG>CCA	p.P952P	MAST4_uc003juw.2_Silent_p.P880P	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1144	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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)		CACATCAGCCGATTGTGATCC	0.537													A	66448592	G	A	66448592	2	1	195	1	0	0	0	0	0	0	0	1	9327	1045	37	1		1	MAST4	5	66448592	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1128342	66448592	114466668	493	107597											
CD180	4064	broad.mit.edu	37	chr5	66478727	66478727	+	Frame_Shift_Del	DEL	A	A	-													ctgagaaggtatttaactgcAaaaaatagcagaatagccaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:66478726_66478726CA>C	uc003juy.2	-	2	2093	c.1945_1945TG>G	c.(1945-1947)gcafs	p.A649fs		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	649					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.F648L(1)		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)		TATTTAACTGCAAAAAATAGC	0.358													-	66478727	A	-	66478727	7	5	195	1	0	1	0	1	0	0	0	0	2972	127	5	0	45	0	CD180	5	66478727	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	30135	66478727	114436533	494	107598											
MAP1B	4131	broad.mit.edu	37	chr5	71491093	71491093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctgccaaggagaagacGgtgaaaaaggaaacaaaggt	13	5	0	3	rs140902387	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:71491093G>A	uc003kbw.3	+	5	2152	c.1911G>A	c.(1909-1911)ACG>ACA	p.T637T	MAP1B_uc010iyw.1_Silent_p.T654T|MAP1B_uc010iyx.1_Silent_p.T511T|MAP1B_uc010iyy.1_Silent_p.T511T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	637	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		AGGAGAAGACGGTGAAAAAGG	0.453													A	71491093	G	A	71491093	2	1	195	1	0	0	0	0	0	0	0	1	9228	1103	39	1		1	MAP1B	5	71491093	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5012366	71491093	109424167	495	107599											
RGNEF	64283	broad.mit.edu	37	chr5	73163798	73163798	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagggagactgtgggAcaggtccatccattgtccag	16	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:73163798A>T	uc011csq.1	+	18	2261	c.2250A>T	c.(2248-2250)GGA>GGT	p.G750G	RGNEF_uc003kcx.2_Silent_p.G750G|RGNEF_uc010izf.2_Silent_p.G750G|RGNEF_uc011csr.1_Silent_p.G437G	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	750					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AGACTGTGGGACAGGTCCATC	0.517													T	73163798	A	T	73163798	2	4	195	1	0	0	0	0	0	0	0	1	13283	262	10	5		5	RGNEF	5	73163798	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1672705	73163798	107751462	496	107600											
AGGF1	55109	broad.mit.edu	37	chr5	76344774	76344774	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctgcagagaaaaggatatgGaacatactctccgaatccct	8	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:76344774G>C	uc003ket.2	+	8	1687	c.1327G>C	c.(1327-1329)GAA>CAA	p.E443Q		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	angiogenic factor VG5Q	443	FHA.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		AAAGGATATGGAACATACTCT	0.289													C	76344774	G	C	76344774	3	2	195	1	0	0	0	0	1	0	0	0	382	1175	41	5	1357	5	AGGF1	5	76344774	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3180976	76344774	104570486	497	107601											
SCAMP1	9522	broad.mit.edu	37	chr5	77717683	77717683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttggttttgtgttgaTtctgcaagagcggttgattt	13	4	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:77717683T>C	uc003kfl.2	+	6	688	c.531T>C	c.(529-531)GAT>GAC	p.D177D	SCAMP1_uc010jaa.2_Intron|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA	NM_004866	NP_004857	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	177	Lumenal (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding				0		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TTTGTGTTGATTCTGCAAGAG	0.373													C	77717683	T	C	77717683	2	2	195	1	0	0	0	0	0	0	0	1	13870	1490	52	3		3	SCAMP1	5	77717683	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1372909	77717683	103197577	498	107602											
CMYA5	202333	broad.mit.edu	37	chr5	79031505	79031505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgaacataaactcagTagttacttctgctgatggtg	10	6	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:79031505T>C	uc003kgc.2	+	2	6989	c.6917T>C	c.(6916-6918)GTA>GCA	p.V2306A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2306						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		ATAAACTCAGTAGTTACTTCT	0.363													C	79031505	T	C	79031505	3	2	195	1	0	0	0	0	1	0	0	0	3590	1638	57	3	6923	3	CMYA5	5	79031505	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1313822	79031505	101883755	499	107603											
XRCC4	7518	broad.mit.edu	37	chr5	82400785	82400785	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtttctgaacccagtaTaactcattttctacaagtat	4	10	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:82400785T>A	uc003kib.2	+	2	175	c.47T>A	c.(46-48)ATA>AAA	p.I16K	XRCC4_uc003kia.1_Missense_Mutation_p.I16K|XRCC4_uc003kid.2_Missense_Mutation_p.I16K|XRCC4_uc003kic.2_Missense_Mutation_p.I16K|XRCC4_uc003kie.2_Missense_Mutation_p.I16K|XRCC4_uc003kif.1_Missense_Mutation_p.I16K	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	16					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		GAACCCAGTATAACTCATTTT	0.338								NHEJ					A	82400785	T	A	82400785	3	1	195	1	0	0	0	0	1	0	0	0	17452	1406	49	5	49	5	XRCC4	5	82400785	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3369280	82400785	98514475	500	107604											
EDIL3	10085	broad.mit.edu	37	chr5	83360539	83360539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagttcacagccaagaAgttccattcgcaaagtgcaa	8	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:83360539A>C	uc003kio.1	-	8	1351	c.932T>G	c.(931-933)CTT>CGT	p.L311R	EDIL3_uc003kip.1_Missense_Mutation_p.L301R|EDIL3_uc011ctt.1_Missense_Mutation_p.L88R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	311	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ACAGCCAAGAAGTTCCATTCG	0.373													C	83360539	A	C	83360539	3	2	195	1	0	0	0	0	1	0	0	0	4915	72	3	5	526	5	EDIL3	5	83360539	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	959754	83360539	97554721	501	107605											
CETN3	1070	broad.mit.edu	37	chr5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-													agaatcttcagtacatcagcTttttttacatcaaaccccaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:89701580_89701580CT>C	uc003kjo.3	-	2	315	c.190_190AG>G	c.(190-192)gctfs	p.A64fs		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	64	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGTACATCAGCTTTTTTTACA	0.313													-	89701581	T	-	89701581	7	5	195	1	0	1	0	1	0	0	0	0	3276	1606	56	0	326	0	CETN3	5	89701581	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	6341042	89701581	91213679	502	107606											
GPR98	84059	broad.mit.edu	37	chr5	89924611	89924611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaaattctgcctcatAcaatacgaggaggtgcagaa	8	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:89924611A>G	uc003kju.2	+	8	1567	c.1471A>G	c.(1471-1473)ACA>GCA	p.T491A	GPR98_uc003kjt.2_Translation_Start_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	491	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TCTGCCTCATACAATACGAGG	0.423													G	89924611	A	G	89924611	3	3	195	1	0	0	0	0	1	0	0	0	6721	391	14	3	1501	3	GPR98	5	89924611	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	223030	89924611	90990649	503	107607											
FAM172A	83989	broad.mit.edu	37	chr5	93386492	93386492	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaaatcttcccggtagtTaaaaacaaatggttccccag	8	9	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:93386492T>G	uc010jbd.2	-	4	460	c.253A>C	c.(253-255)AAC>CAC	p.N85H	FAM172A_uc011cuf.1_Missense_Mutation_p.N39H|FAM172A_uc011cug.1_Missense_Mutation_p.N39H|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.N85H	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	85						endoplasmic reticulum|extracellular region					0						TCCCGGTAGTTAAAAACAAAT	0.323													G	93386492	T	G	93386492	3	3	195	1	0	0	0	0	1	0	0	0	5492	1754	61	5	1029	5	FAM172A	5	93386492	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3461881	93386492	87528768	504	107608											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						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)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	195	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	8369236	101755728	79159532	505	107609											
TSLP	85480	broad.mit.edu	37	chr5	110409325	110409325	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttagctatctggtgcccAggctattcggaaactcaggt	11	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:110409325A>G	uc003kpb.2	+	3	532	c.333A>G	c.(331-333)CCA>CCG	p.P111P	TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_Silent_p.P15P	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1	111						extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCTGGTGCCCAGGCTATTCGG	0.527													G	110409325	A	G	110409325	2	3	195	1	0	0	0	0	0	0	0	1	16625	175	7	3		3	TSLP	5	110409325	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	8653597	110409325	70505935	506	107610											
EPB41L4A	64097	broad.mit.edu	37	chr5	111500731	111500732	+	Frame_Shift_Ins	INS	-	-	T													gcttgtatagtttttattgtINSttttgctgtgtgttttccag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:111500730_111500731G>GT	uc003kpv.1	-	22	2291_2292	c.2017_2018C>AC	c.(2017-2019)acafs	p.T673fs	EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_Non-coding_Transcript	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	673						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.T673delT(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGTTTTTATTGTTTTTGCTGTG	0.421													T	111500732	-	T	111500731	7	5	195	1	0	1	1	0	0	0	0	0	5155	1725	60	0	47	0	EPB41L4A	5	111500731	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1091406	111500731	69414529	507	107611											
FAM170A	340069	broad.mit.edu	37	chr5	118970280	118970280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagagcacccaagatgaGcaggaggaggaaaatggaaa	14	6	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:118970280G>A	uc003ksm.2	+	3	1047	c.837G>A	c.(835-837)GAG>GAA	p.E279E	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Silent_p.E279E|FAM170A_uc003kso.2_Silent_p.E232E	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	279	Glu-rich.					intracellular	zinc ion binding			skin(1)	1						CCCaagatgagcaggaggagg	0.333													A	118970280	G	A	118970280	2	1	195	1	0	0	0	0	0	0	0	1	5489	962	34	2		2	FAM170A	5	118970280	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	7469549	118970280	61944980	508	107612											
SRFBP1	153443	broad.mit.edu	37	chr5	121309939	121309939	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattcgagttttagttatcCgaaaacttgtcaggagtgtt	10	5	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:121309939C>T	uc003kst.1	+	2	157	c.85C>T	c.(85-87)CGA>TGA	p.R29*		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		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)		TTTAGTTATCCGAAAACTTGT	0.318													T	121309939	C	T	121309939	4	4	195	1	0	0	0	0	0	1	0	0	15143	644	23	1	91	1	SRFBP1	5	121309939	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2339659	121309939	59605321	509	107613											
ZNF474	133923	broad.mit.edu	37	chr5	121488306	121488306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctgatcatcttactggCctcaagaaagcttgtagtgg	10	8	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:121488306C>T	uc003ksv.2	+	2	997	c.621C>T	c.(619-621)GGC>GGT	p.G207G		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	207						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ATCTTACTGGCCTCAAGAAAG	0.488													T	121488306	C	T	121488306	2	4	195	1	0	0	0	0	0	0	0	1	17929	726	26	2		2	ZNF474	5	121488306	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	178367	121488306	59426954	510	107614											
FBN2	2201	broad.mit.edu	37	chr5	127728848	127728848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagtccagtgatgataggtCcctgtcccccggcccccaca	9	16	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:127728848C>T	uc003kuu.2	-	10	1884	c.1445G>A	c.(1444-1446)GGA>GAA	p.G482E	FBN2_uc003kuv.2_Missense_Mutation_p.G449E	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	482					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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GATGATAGGTCCCTGTCCCCC	0.498													T	127728848	C	T	127728848	3	4	195	1	0	0	0	0	1	0	0	0	5703	855	30	4	7517	4	FBN2	5	127728848	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6240542	127728848	53186412	511	107615											
SLC22A5	6584	broad.mit.edu	37	chr5	131726528	131726528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaatatttgccccggcGctattccatggccactgccc	9	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:131726528G>A	uc003kww.3	+	7	1463	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	SLC22A5_uc003kwx.3_Missense_Mutation_p.R424H|SLC22A5_uc010jdr.1_Missense_Mutation_p.R20H	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	400	Cytoplasmic (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TTGCCCCGGCGCTATTCCATG	0.547													A	131726528	G	A	131726528	3	1	195	1	0	0	0	0	1	0	0	0	14457	1087	38	1	1225	1	SLC22A5	5	131726528	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3997680	131726528	49188732	512	107616											
PHF15	23338	broad.mit.edu	37	chr5	133914938	133914938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagaggccgaggacggTggggtgcagcggggtccccg	21	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:133914938T>C	uc003kzo.1	+	11	2483	c.2304T>C	c.(2302-2304)GGT>GGC	p.G768G	PHF15_uc011cxt.1_Silent_p.G812G|PHF15_uc003kzk.2_Silent_p.G828G|PHF15_uc003kzm.2_Silent_p.G769G|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	768					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGAGGACGGTGGGGTGCAGC	0.642													C	133914938	T	C	133914938	2	2	195	1	0	0	0	0	0	0	0	1	11826	1683	59	3		3	PHF15	5	133914938	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2188410	133914938	47000322	513	107617											
PITX1	5307	broad.mit.edu	37	chr5	134364597	134364597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcacgtgtcccggtagaCgctgtagggcgaggcgggag	19	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:134364597C>T	uc010jea.2	-	3	1210	c.817G>A	c.(817-819)GTC>ATC	p.V273I	PITX1_uc011cxy.1_Missense_Mutation_p.V273I	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	273	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding	p.V273I(1)		ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TCCCGGTAGACGCTGTAGGGC	0.672													T	134364597	C	T	134364597	3	4	195	1	0	0	0	0	1	0	0	0	11954	536	19	1	131	1	PITX1	5	134364597	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	449659	134364597	46550663	514	107618											
FBXL21	26223	broad.mit.edu	37	chr5	135272337	135272337	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtccagttgtcaggagcAgcgaaacagccaaaagttgg	12	8	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:135272337A>C	uc010jec.1	+	1	75	c.54A>C	c.(52-54)GCA>GCC	p.A18A	FBXL21_uc003lbc.2_Intron	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	18					rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCAGGAGCAGCGAAACAGC	0.393													C	135272337	A	C	135272337	2	2	195	1	0	0	0	0	0	0	0	1	5718	175	7	5		5	FBXL21	5	135272337	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	907740	135272337	45642923	515	107619											
KDM3B	51780	broad.mit.edu	37	chr5	137715371	137715371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatcaggactccatcactCgtcttatggaggtgtctgta	10	11	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:137715371C>T	uc003lcy.1	+	5	879	c.679C>T	c.(679-681)CGT>TGT	p.R227C	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	227					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			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CTCCATCACTCGTCTTATGGA	0.463													T	137715371	C	T	137715371	3	4	195	1	0	0	0	0	1	0	0	0	8127	884	31	1	697	1	KDM3B	5	137715371	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2443034	137715371	43199889	516	107620											
CTNNA1	1495	broad.mit.edu	37	chr5	138119057	138119057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagaagatgttcgaaaAcaaggtaggtcattactgct	11	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:138119057A>G	uc003ldh.2	+	3	392	c.297A>G	c.(295-297)AAA>AAG	p.K99K	CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Silent_p.K99K	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	99	Interaction with JUP and CTNNB1.|Involved in homodimerization.				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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGTTCGAAAACAAGGTAGGT	0.403													G	138119057	A	G	138119057	2	3	195	1	0	0	0	0	0	0	0	1	4012	40	2	3		3	CTNNA1	5	138119057	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	403686	138119057	42796203	517	107621											
PSD2	84249	broad.mit.edu	37	chr5	139193918	139193918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctcgagggcttccagCgctgtgatgtggcccggcag	14	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:139193918C>T	uc003leu.1	+	4	1190	c.985C>T	c.(985-987)CGC>TGC	p.R329C		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	329	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTTCCAGCGCTGTGATGT	0.642													T	139193918	C	T	139193918	3	4	195	1	0	0	0	0	1	0	0	0	12647	768	27	1	995	1	PSD2	5	139193918	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1074861	139193918	41721342	518	107622											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139884482	139884482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacacctgaatcctgttcGcagactacaagcaatgtggc	8	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:139884482G>A	uc003lfs.1	+	16	3205	c.3081G>A	c.(3079-3081)TCG>TCA	p.S1027S	ANKHD1_uc003lfq.1_Silent_p.S1046S|ANKHD1_uc003lfr.2_Silent_p.S1027S|ANKHD1_uc003lft.1_Silent_p.S238S|ANKHD1_uc003lfu.1_Silent_p.S507S|ANKHD1_uc003lfv.1_Silent_p.S104S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1027						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCTGTTCGCAGACTACAA	0.418													A	139884482	G	A	139884482	2	1	195	1	0	0	0	0	0	0	0	1	629	1074	38	1		1	ANKHD1-EIF4EBP3	5	139884482	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	690564	139884482	41030778	519	107623											
CD14	929	broad.mit.edu	37	chr5	140011637	140011637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcgtcaggctgcggcgccCtgttcagtctgttgcagctg	14	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140011637C>A	uc003lgi.1	-	2	1286	c.932G>T	c.(931-933)AGG>ATG	p.R311M	CD14_uc003lgj.1_Missense_Mutation_p.R311M	NM_000591	NP_000582	P08571	CD14_HUMAN	CD14 antigen precursor	311	LRR 10.				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGGCGCCCTGTTCAGTCT	0.607													A	140011637	C	A	140011637	3	1	195	1	0	0	0	0	1	0	0	0	2964	681	24	5	199	5	CD14	5	140011637	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	127155	140011637	40903623	520	107624											
PCDHA4	56144	broad.mit.edu	37	chr5	140186806	140186806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagcggccaggaatccCggcgtctgctgctcttactt	14	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140186806C>T	uc003lhi.2	+	1	135	c.34C>T	c.(34-36)CGG>TGG	p.R12W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R12W|PCDHA4_uc011daa.1_Missense_Mutation_p.R12W	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	12					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAATCCCGGCGTCTGCT	0.512													T	140186806	C	T	140186806	3	4	195	1	0	0	0	0	1	0	0	0	11526	643	23	1	36	1	PCDHA4	5	140186806	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	175169	140186806	40728454	521	107625											
PCDHA4	56144	broad.mit.edu	37	chr5	140188497	140188497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgggtggcactggtggCgcagtgagcgagctggtgcc	21	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140188497C>T	uc003lhi.2	+	1	1826	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G575G|PCDHA4_uc011daa.1_Silent_p.G575G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGGTGGCGCAGTGAGCG	0.662													T	140188497	C	T	140188497	2	4	195	1	0	0	0	0	0	0	0	1	11526	755	27	1		1	PCDHA4	5	140188497	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1691	140188497	40726763	522	107626											
PCDHA6	56142	broad.mit.edu	37	chr5	140207942	140207942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttgtttgtgaattctcGgatcgaccgcgaggagctgt	12	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140207942G>A	uc003lho.2	+	1	293	c.266G>A	c.(265-267)CGG>CAG	p.R89Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.R89Q|PCDHA6_uc011dab.1_Missense_Mutation_p.R89Q	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	89	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATCGACCGC	0.607													A	140207942	G	A	140207942	3	1	195	1	0	0	0	0	1	0	0	0	11528	1116	39	1	268	1	PCDHA6	5	140207942	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	19445	140207942	40707318	523	107627											
PCDHA6	56142	broad.mit.edu	37	chr5	140208825	140208825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgattcaggtgccaacggGcaggtgaactgctcgctgac	13	12	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140208825G>A	uc003lho.2	+	1	1176	c.1149G>A	c.(1147-1149)GGG>GGA	p.G383G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.G383G|PCDHA6_uc011dab.1_Silent_p.G383G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	383	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCAACGGGCAGGTGAACT	0.537													A	140208825	G	A	140208825	2	1	195	1	0	0	0	0	0	0	0	1	11528	1190	42	2		2	PCDHA6	5	140208825	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	883	140208825	40706435	524	107628											
PCDHA7	56141	broad.mit.edu	37	chr5	140215089	140215089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcacattgattagcgTgtttgaccgagattttggag	11	7	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140215089T>C	uc003lhq.2	+	1	1121	c.1121T>C	c.(1120-1122)GTG>GCG	p.V374A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.V374A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	374	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATTAGCGTGTTTGACCGA	0.498													C	140215089	T	C	140215089	3	2	195	1	0	0	0	0	1	0	0	0	11529	1696	59	3	1123	3	PCDHA7	5	140215089	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	6264	140215089	40700171	525	107629											
PCDHA11	56138	broad.mit.edu	37	chr5	140248987	140248987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgtgcgggcagagcgCggagtgcagcatccacctgg	18	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140248987C>T	uc003lia.2	+	1	1157	c.299C>T	c.(298-300)GCG>GTG	p.A100V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A100V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	100	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGAGCGCGGAGTGCAGC	0.562													T	140248987	C	T	140248987	3	4	195	1	0	0	0	0	1	0	0	0	11521	768	27	1	301	1	PCDHA11	5	140248987	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	33898	140248987	40666273	526	107630											
PCDHA11	56138	broad.mit.edu	37	chr5	140249919	140249919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgttggtgctggacagcGccctggaccgcgagaacgtg	15	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140249919G>A	uc003lia.2	+	1	2089	c.1231G>A	c.(1231-1233)GCC>ACC	p.A411T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A411T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	411	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGCGCCCTGGACCG	0.617													A	140249919	G	A	140249919	3	1	195	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1233	1	PCDHA11	5	140249919	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	932	140249919	40665341	527	107631											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306856	140306856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacctctctttcctgccGgcgacgtgcagctgcacatc	8	17	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140306856G>A	uc003lih.2	+	1	555	c.379G>A	c.(379-381)GGC>AGC	p.G127S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.G127S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	127	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCCTGCCGGCGACGTGCA	0.587													A	140306856	G	A	140306856	3	1	195	1	0	0	0	0	1	0	0	0	11532	1116	39	1	381	1	PCDHAC1	5	140306856	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	56937	140306856	40608404	528	107632											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347356	140347356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctaccagatctatgtGcaggcgactgaccggggtcc	11	14	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140347356G>A	uc003lii.2	+	1	1245	c.1005G>A	c.(1003-1005)GTG>GTA	p.V335V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.V335V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	335	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCTATGTGCAGGCGACTG	0.592													A	140347356	G	A	140347356	2	1	195	1	0	0	0	0	0	0	0	1	11533	1306	46	2		2	PCDHAC2	5	140347356	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	40500	140347356	40567904	529	107633											
PCDHB5	26167	broad.mit.edu	37	chr5	140517107	140517107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcattggcctcggtgtcGtcgctcttcctcttttcggt	12	12	2	0	rs61745780		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140517107G>A	uc003liq.2	+	1	2308	c.2091G>A	c.(2089-2091)TCG>TCA	p.S697S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	697	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGTCGTCGCTCTTCC	0.706													A	140517107	G	A	140517107	2	1	195	1	0	0	0	0	0	0	0	1	11545	1132	40	1		1	PCDHB5	5	140517107	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	169751	140517107	40398153	530	107634											
PCDHB6	56130	broad.mit.edu	37	chr5	140531423	140531423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtctttcgagttccgcGtgggcgccacagaccgcggc	14	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140531423G>A	uc003lir.2	+	1	1585	c.1585G>A	c.(1585-1587)GTG>ATG	p.V529M	PCDHB6_uc011dah.1_Missense_Mutation_p.V393M	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	529	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCAC	0.662													A	140531423	G	A	140531423	3	1	195	1	0	0	0	0	1	0	0	0	11546	1145	40	1	1587	1	PCDHB6	5	140531423	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	14316	140531423	40383837	531	107635											
PCDHB6	56130	broad.mit.edu	37	chr5	140531506	140531506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacgccaacgacaactcGcccttcgtgttgtacccgct	9	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140531506G>A	uc003lir.2	+	1	1668	c.1668G>A	c.(1666-1668)TCG>TCA	p.S556S	PCDHB6_uc011dah.1_Silent_p.S420S	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	556	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGACAACTCGCCCTTCGTGT	0.706													A	140531506	G	A	140531506	2	1	195	1	0	0	0	0	0	0	0	1	11546	1074	38	1		1	PCDHB6	5	140531506	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	83	140531506	40383754	532	107636											
PCDHB8	56128	broad.mit.edu	37	chr5	140559225	140559225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtgggcgcttcagaccGcggctccccggctttgagca	15	15	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140559225G>A	uc011dai.1	+	1	1796	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCAGACCGCGGCTCCCCG	0.662													A	140559225	G	A	140559225	3	1	195	1	0	0	0	0	1	0	0	0	11548	1087	38	1	1612	1	PCDHB8	5	140559225	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	27719	140559225	40356035	533	107637											
PCDHB14	56122	broad.mit.edu	37	chr5	140605165	140605165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggtggcattggcctcGgtgtcgtcgctcttcctctt	13	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140605165G>A	uc003ljb.2	+	1	2088	c.2088G>A	c.(2086-2088)TCG>TCA	p.S696S	PCDHB14_uc011dal.1_Silent_p.S543S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	696	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTGGCCTCGGTGTCGTCGC	0.711													A	140605165	G	A	140605165	2	1	195	1	0	0	0	0	0	0	0	1	11539	1103	39	1		1	PCDHB14	5	140605165	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	45940	140605165	40310095	534	107638											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740782	140740782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcccctaccggaggattcGccaccaggaacagtgatcgc	10	15	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140740782G>A	uc003ljs.1	+	1	1080	c.1080G>A	c.(1078-1080)TCG>TCA	p.S360S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Silent_p.S360S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	360	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGGATTCGCCACCAGGAA	0.443													A	140740782	G	A	140740782	2	1	195	1	0	0	0	0	0	0	0	1	11563	1074	38	1		1	PCDHGB2	5	140740782	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	135617	140740782	40174478	535	107639											
PCDHGA8	9708	broad.mit.edu	37	chr5	140772638	140772638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcggcagcttgatcacCgcgggcaggatagatcggga	16	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140772638C>T	uc003lkd.1	+	1	1156	c.258C>T	c.(256-258)ACC>ACT	p.T86T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.T86T	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	86	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGATCACCGCGGGCAGGA	0.587													T	140772638	C	T	140772638	2	4	195	1	0	0	0	0	0	0	0	1	11560	639	23	1		1	PCDHGA8	5	140772638	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	31856	140772638	40142622	536	107640											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793360	140793360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcactccctagatcgCgaggaagaggccattcacca	11	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140793360C>T	uc003lkl.1	+	1	618	c.618C>T	c.(616-618)CGC>CGT	p.R206R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.R206R	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	206	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTAGATCGCGAGGAAGAGG	0.582													T	140793360	C	T	140793360	2	4	195	1	0	0	0	0	0	0	0	1	11551	755	27	1		1	PCDHGA10	5	140793360	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	20722	140793360	40121900	537	107641											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798770	140798770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attactgacgtcaatgacaaCgcgccggttttcggacagtc	10	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:140798770C>T	uc003lkn.1	+	1	1489	c.1344C>T	c.(1342-1344)AAC>AAT	p.N448N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.N448N|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	448	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAATGACAACGCGCCGGTTT	0.572													T	140798770	C	T	140798770	2	4	195	1	0	0	0	0	0	0	0	1	11568	535	19	1		1	PCDHGB7	5	140798770	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5410	140798770	40116490	538	107642											
HDAC3	8841	broad.mit.edu	37	chr5	141014481	141014481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtcctcggagtggaagcGgcacatgtcatgttgggagg	17	7	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:141014481G>A	uc003llf.2	-	3	244	c.178C>T	c.(178-180)CGC>TGC	p.R60C	HDAC3_uc003lle.1_Missense_Mutation_p.R3C|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron|RELL2_uc003lli.2_5'Flank|RELL2_uc003llh.2_5'Flank|RELL2_uc003llg.2_5'Flank|RELL2_uc010jgf.2_5'Flank	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	60	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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GAGTGGAAGCGGCACATGTCA	0.552													A	141014481	G	A	141014481	3	1	195	1	0	0	0	0	1	0	0	0	7008	1116	39	1	1160	1	HDAC3	5	141014481	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	215711	141014481	39900779	539	107643											
ARAP3	64411	broad.mit.edu	37	chr5	141051787	141051787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcttctcagccacctcGtagtcagacagggtctcggt	10	13	4	2	rs149846650	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:141051787G>A	uc003llm.2	-	10	1545	c.1467C>T	c.(1465-1467)TAC>TAT	p.Y489Y	ARAP3_uc011dbe.1_Silent_p.Y151Y|ARAP3_uc003lln.2_Silent_p.Y411Y|ARAP3_uc003llo.1_Silent_p.Y489Y	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	489	Arf-GAP.				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			breast(5)|ovary(1)|large_intestine(1)	7						CAGCCACCTCGTAGTCAGACA	0.632													A	141051787	G	A	141051787	2	1	195	1	0	0	0	0	0	0	0	1	840	1140	40	1		1	ARAP3	5	141051787	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	37306	141051787	39863473	540	107644											
SPRY4	81848	broad.mit.edu	37	chr5	141694062	141694062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagtggtagaagatgccCtgcaccaaacacatgcacgt	11	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:141694062C>A	uc003lml.2	-	2	871	c.612G>T	c.(610-612)CAG>CAT	p.Q204H	SPRY4_uc010jgi.1_Missense_Mutation_p.Q227H	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	204	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGATGCCCTGCACCAAAC	0.622									Testicular_Cancer_Familial_Clustering_of				A	141694062	C	A	141694062	3	1	195	1	0	0	0	0	1	0	0	0	15107	680	24	5	291	5	SPRY4	5	141694062	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	642275	141694062	39221198	541	107645											
DPYSL3	1809	broad.mit.edu	37	chr5	146781177	146781177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgtcacaaatgcagcCgccttggcccagttcttgct	12	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:146781177C>T	uc003lon.1	-	9	1004	c.894G>A	c.(892-894)GCG>GCA	p.A298A	DPYSL3_uc003loo.2_Silent_p.A412A	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	298					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGCAGCCGCCTTGGCCC	0.562													T	146781177	C	T	146781177	2	4	195	1	0	0	0	0	0	0	0	1	4748	639	23	1		1	DPYSL3	5	146781177	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5087115	146781177	34134083	542	107646											
SPINK5	11005	broad.mit.edu	37	chr5	147481387	147481387	+	Frame_Shift_Del	DEL	T	T	-													atccaggaaaaacggacggcTtttttgcaccagagagaatg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:147481386_147481386CT>C	uc003lox.2	+	14	1418	c.1345_1345CT>C	c.(1345-1347)cttfs	p.L449fs	SPINK5_uc010jgs.1_Frame_Shift_Del_p.L421fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.L430fs|SPINK5_uc003low.2_Frame_Shift_Del_p.L449fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.L449fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	449	Kazal-like 7.				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)			AAACGGACGGCTTTTTTGCAC	0.468													-	147481387	T	-	147481387	7	5	195	1	0	1	0	1	0	0	0	0	15061	1609	56	0	1404	0	SPINK5	5	147481387	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	700210	147481387	33433873	543	107647											
FBXO38	81545	broad.mit.edu	37	chr5	147805103	147805103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacccagtggtcttcagcGtgtagtaaaaccaacctcaa	9	11	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:147805103G>A	uc003lpf.1	+	14	1877	c.1757G>A	c.(1756-1758)CGT>CAT	p.R586H	FBXO38_uc003lpg.1_Missense_Mutation_p.R586H|FBXO38_uc003lph.2_Missense_Mutation_p.R586H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	586						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTCAGCGTGTAGTAAAA	0.408													A	147805103	G	A	147805103	3	1	195	1	0	0	0	0	1	0	0	0	5746	1145	40	1	1807	1	FBXO38	5	147805103	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	323716	147805103	33110157	544	107648											
SH3TC2	79628	broad.mit.edu	37	chr5	148406585	148406585	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagttcacaatagagtcGtacagcctgcaggagatagt	11	8	1	3	rs80338931	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:148406585G>A	uc003lpu.2	-	11	2862	c.2710C>T	c.(2710-2712)CGA>TGA	p.R904*	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Nonsense_Mutation_p.R548*|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Nonsense_Mutation_p.R451*|SH3TC2_uc010jgx.2_Nonsense_Mutation_p.R897*|SH3TC2_uc003lpv.1_Nonsense_Mutation_p.R451*|SH3TC2_uc011dbz.1_Nonsense_Mutation_p.R789*	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	904							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATAGAGTCGTACAGCCTGC	0.517													A	148406585	G	A	148406585	4	1	195	1	0	0	0	0	0	1	0	0	14262	1153	40	1	1184	1	SH3TC2	5	148406585	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	601482	148406585	32508675	545	107649											
ARHGEF37	389337	broad.mit.edu	37	chr5	149006814	149006814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaaggcaacagcggccGctggctggtggacaccgggg	16	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:149006814G>A	uc003lra.1	+	11	1704	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	547	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						AACAGCGGCCGCTGGCTGGTG	0.607													A	149006814	G	A	149006814	3	1	195	1	0	0	0	0	1	0	0	0	906	1087	38	1	1678	1	ARHGEF37	5	149006814	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	600229	149006814	31908446	546	107650											
CSF1R	1436	broad.mit.edu	37	chr5	149453020	149453020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtcacctcctggatgAggttctgctcagagctcaag	11	13	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:149453020A>G	uc003lrl.2	-	6	1121	c.926T>C	c.(925-927)CTC>CCC	p.L309P	CSF1R_uc011dcd.1_Missense_Mutation_p.L161P|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.L309P|CSF1R_uc011dce.1_Intron	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	309	Extracellular (Potential).|Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCCTGGATGAGGTTCTGCTC	0.517													G	149453020	A	G	149453020	3	3	195	1	0	0	0	0	1	0	0	0	3932	304	11	3	2056	3	CSF1R	5	149453020	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	446206	149453020	31462240	547	107651											
CSF1R	1436	broad.mit.edu	37	chr5	149460476	149460476	+	Frame_Shift_Del	DEL	G	G	-													acagggtccagtgaggtgatGgggggccatcccattccacg					rs139516059		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:149460475_149460475TG>T	uc003lrl.3	-	1	357	c.162_162CA>A	c.(160-162)ccafs	p.P54fs	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.P54fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.P54fs|CSF1R_uc011dcf.2_Frame_Shift_Del_p.P54fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	54	Ig-like C2-type 1.			P -> A (in Ref. 2; CAA27300).	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)	AGTGAGGTGATGGGGGGCCAT	0.592													-	149460476	G	-	149460476	7	5	195	1	0	1	0	1	0	0	0	0	3932	1348	47	0	2837	0	CSF1R	5	149460476	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	7456	149460476	31454784	548	107652											
ARSI	340075	broad.mit.edu	37	chr5	149677808	149677808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatagaggaagaggggacGctgagggctgtggctggcca	18	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:149677808G>A	uc003lrv.2	-	2	1268	c.679C>T	c.(679-681)CGT>TGT	p.R227C		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	227						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAGGGGACGCTGAGGGCTG	0.632													A	149677808	G	A	149677808	3	1	195	1	0	0	0	0	1	0	0	0	994	1087	38	1	1034	1	ARSI	5	149677808	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	217332	149677808	31237452	549	107653											
SYNPO	11346	broad.mit.edu	37	chr5	150028881	150028882	+	Frame_Shift_Ins	INS	-	-	C													tcctgtatcccagctccgacINScccaagtcttctcatctgaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:150028880_150028881A>AC	uc003lsn.3	+	2	2149_2150	c.1775_1776A>AC	c.(1774-1776)gacfs	p.D592fs	SYNPO_uc021yfu.1_Frame_Shift_Ins_p.D592fs|SYNPO_uc003lso.4_Frame_Shift_Ins_p.D348fs|SYNPO_uc003lsp.3_Frame_Shift_Ins_p.D348fs|SYNPO_uc021yfv.1_Frame_Shift_Ins_p.D348fs	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	592					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)			CCCAGCTCCGACCCCAAGTCTT	0.599													C	150028882	-	C	150028881	7	5	195	1	0	1	1	0	0	0	0	0	15453	506	18	0	1782	0	SYNPO	5	150028881	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	351073	150028881	30886379	550	107654											
GRIA1	2890	broad.mit.edu	37	chr5	152873596	152873596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagattgatattgtgaacaTcagcgacagctttgagatga	10	7	1	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:152873596T>C	uc003lva.3	+	2	556	c.191T>C	c.(190-192)ATC>ACC	p.I64T	GRIA1_uc003luy.3_Missense_Mutation_p.I64T|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.I64T|GRIA1_uc011dcx.1_5'UTR|GRIA1_uc011dcy.1_Missense_Mutation_p.I74T|GRIA1_uc011dcz.1_Missense_Mutation_p.I74T|GRIA1_uc010jia.1_Missense_Mutation_p.I44T	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	64	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	ATTGTGAACATCAGCGACAGC	0.463													C	152873596	T	C	152873596	3	2	195	1	0	0	0	0	1	0	0	0	6767	1435	50	3	197	3	GRIA1	5	152873596	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2844715	152873596	28041664	551	107655											
GRIA1	2890	broad.mit.edu	37	chr5	153085355	153085355	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtttggggatctccatcatGattaaaaaaccacagaaatc	7	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:153085355G>A	uc003lva.3	+	11	1916	c.1551G>A	c.(1549-1551)ATG>ATA	p.M517I	GRIA1_uc003luy.3_Missense_Mutation_p.M517I|GRIA1_uc003luz.3_Missense_Mutation_p.M422I|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.M437I|GRIA1_uc011dcx.1_Missense_Mutation_p.M448I|GRIA1_uc011dcy.1_Missense_Mutation_p.M527I|GRIA1_uc011dcz.1_Missense_Mutation_p.M527I|GRIA1_uc010jia.1_Missense_Mutation_p.M497I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	517	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	TCTCCATCATGATTAAAAAAC	0.428													A	153085355	G	A	153085355	3	1	195	1	0	0	0	0	1	0	0	0	6767	1290	45	4	1593	4	GRIA1	5	153085355	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	211759	153085355	27829905	552	107656											
GRIA1	2890	broad.mit.edu	37	chr5	153144175	153144175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctggaagcaggatctActaaggagttcttcagggta	14	7	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:153144175A>G	uc003lva.3	+	12	2370	c.2005A>G	c.(2005-2007)ACT>GCT	p.T669A	GRIA1_uc003luy.3_Missense_Mutation_p.T669A|GRIA1_uc003luz.3_Missense_Mutation_p.T574A|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.T589A|GRIA1_uc011dcx.1_Missense_Mutation_p.T600A|GRIA1_uc011dcy.1_Missense_Mutation_p.T679A|GRIA1_uc011dcz.1_Missense_Mutation_p.T679A	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	669	Glutamate binding (By similarity).|Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	AGCAGGATCTACTAAGGAGTT	0.493													G	153144175	A	G	153144175	3	3	195	1	0	0	0	0	1	0	0	0	6767	391	14	3	2051	3	GRIA1	5	153144175	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	58820	153144175	27771085	553	107657											
FAM114A2	10827	broad.mit.edu	37	chr5	153382463	153382465	+	In_Frame_Del	DEL	CTT	CTT	-													tgcttccgactgtttttctcCttcttcattctctgctaatg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:153382462_153382464CCTT>C	uc003lvd.3	-	10	1201_1203	c.1059_1061AAGG>G	c.(1057-1062)gaagga>gaGa	p.G354del	FAM114A2_uc003lvb.3_In_Frame_Del_p.G354del|FAM114A2_uc003lve.3_In_Frame_Del_p.G170del|FAM114A2_uc011dda.2_In_Frame_Del_p.G284del|FAM114A2_uc003lvc.3_In_Frame_Del_p.G354del	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	354							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						CTGTTTTTCTCCTTCTTCATTCT	0.374													-	153382465	CTT	-	153382463	7	5	195	1	0	1	0	1	0	0	0	0	5404	690	24	0	477	0	FAM114A2	5	153382463	In_Frame_Del	DEL	CTT	TCGA-CG-5728-01A-11D-1600-08	238288	153382463	27532797	554	107658											
KIF4B	285643	broad.mit.edu	37	chr5	154396385	154396385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccaagagaatgaaaTcatcaagcagaaactgatcc	7	10	3	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:154396385T>C	uc010jih.1	+	1	3126	c.2966T>C	c.(2965-2967)ATC>ACC	p.I989T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	989	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGAATGAAATCATCAAGCAG	0.443													C	154396385	T	C	154396385	3	2	195	1	0	0	0	0	1	0	0	0	8304	1435	50	3	2968	3	KIF4B	5	154396385	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1013922	154396385	26518875	555	107659											
CLINT1	9685	broad.mit.edu	37	chr5	157214796	157214796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatccctatgttcatgttcAtgcccatcatgctctggttc	6	13	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:157214796A>G	uc003lxj.1	-	12	1926	c.1736T>C	c.(1735-1737)ATG>ACG	p.M579T	CLINT1_uc003lxg.1_Missense_Mutation_p.M116T|CLINT1_uc003lxh.1_Missense_Mutation_p.M153T|CLINT1_uc003lxi.1_Missense_Mutation_p.M579T|CLINT1_uc011ddv.1_Missense_Mutation_p.M597T	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	579	Met-rich.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	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)			GTTCATGTTCATGCCCATCAT	0.542													G	157214796	A	G	157214796	3	3	195	1	0	0	0	0	1	0	0	0	3531	217	8	3	145	3	CLINT1	5	157214796	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2818411	157214796	23700464	556	107660											
ODZ2	57451	broad.mit.edu	37	chr5	167674458	167674458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagatgttccggtccctcAtgtactggatgacggtgcaa	12	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:167674458A>G	uc010jjd.2	+	27	6487	c.6487A>G	c.(6487-6489)ATG>GTG	p.M2163V	ODZ2_uc003lzr.3_Missense_Mutation_p.M1933V|ODZ2_uc003lzt.3_Missense_Mutation_p.M1536V|ODZ2_uc010jje.2_Missense_Mutation_p.M1427V	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCGGTCCCTCATGTACTGGAT	0.522													G	167674458	A	G	167674458	3	3	195	1	0	0	0	0	1	0	0	0	10835	217	8	3	6593	3	ODZ2	5	167674458	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	10459662	167674458	13240802	557	107661											
RANBP17	64901	broad.mit.edu	37	chr5	170632540	170632540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgacagcgtatgttgatcGggctggcaagagatcttcga	13	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:170632540G>A	uc003mba.2	+	20	2171	c.2155G>A	c.(2155-2157)GGG>AGG	p.G719R	RANBP17_uc003mbb.2_Missense_Mutation_p.G44R|RANBP17_uc003mbd.2_Missense_Mutation_p.G82R|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_Missense_Mutation_p.G82R	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	719					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	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)			TATGTTGATCGGGCTGGCAAG	0.438			T	TRD@	ALL								A	170632540	G	A	170632540	3	1	195	1	0	0	0	0	1	0	0	0	13027	1116	39	1	2233	1	RANBP17	5	170632540	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2958082	170632540	10282720	558	107662											
UNC5A	90249	broad.mit.edu	37	chr5	176295907	176295907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacggccaactacacctgCgtggccaagaacatcgtggc	11	14	0	1	rs144713374		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:176295907C>T	uc003mey.2	+	5	855	c.663C>T	c.(661-663)TGC>TGT	p.C221C	UNC5A_uc003mex.1_Silent_p.C221C|UNC5A_uc010jkg.1_Silent_p.C181C	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	221	Ig-like C2-type.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	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)			ACTACACCTGCGTGGCCAAGA	0.667													T	176295907	C	T	176295907	2	4	195	1	0	0	0	0	0	0	0	1	16988	776	27	1		1	UNC5A	5	176295907	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5663367	176295907	4619353	559	107663											
N4BP3	23138	broad.mit.edu	37	chr5	177548793	177548793	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgagctgctgcaggagCgacttcggggccaggagcag	19	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:177548793C>T	uc003mik.1	+	5	1673	c.1426C>T	c.(1426-1428)CGA>TGA	p.R476*	N4BP3_uc003mil.1_Nonsense_Mutation_p.R145*	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	476	Potential.					cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|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)			GCTGCAGGAGCGACTTCGGGG	0.672													T	177548793	C	T	177548793	4	4	195	1	0	0	0	0	0	1	0	0	10113	760	27	1	1440	1	N4BP3	5	177548793	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1252886	177548793	3366467	560	107664											
GRM6	2916	broad.mit.edu	37	chr5	178408747	178408747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgcttctgcacattctGctctggatggaagaggatga	11	9	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:178408747G>A	uc003mjr.2	-	10	2724	c.2545C>T	c.(2545-2547)CAG>TAG	p.Q849*	GRM6_uc003mjq.2_Nonsense_Mutation_p.Q252*	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	849	Cytoplasmic (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		TGCACATTCTGCTCTGGATGG	0.607													A	178408747	G	A	178408747	4	1	195	1	0	0	0	0	0	1	0	0	6801	1328	46	2	92	2	GRM6	5	178408747	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	859954	178408747	2506513	561	107665											
MAML1	9794	broad.mit.edu	37	chr5	179201712	179201712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcactgcacccaggcctaccCtgtgcggaccgcgggccagg	14	17	0	0	rs142452741		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:179201712C>A	uc003mkm.2	+	5	3148	c.2885C>A	c.(2884-2886)CCT>CAT	p.P962H	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	962					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			lung(4)|ovary(2)	6	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)			CAGGCCTACCCTGTGCGGACC	0.687													A	179201712	C	A	179201712	3	1	195	1	0	0	0	0	1	0	0	0	9205	681	24	5	2903	5	MAML1	5	179201712	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	792965	179201712	1713548	562	107666											
CNOT6	57472	broad.mit.edu	37	chr5	179991555	179991555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaacaagacggctgctgaActatttgcttgataatttgt	10	6	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr5:179991555A>G	uc003mlx.2	+	5	801	c.452A>G	c.(451-453)AAC>AGC	p.N151S	CNOT6_uc010jld.2_Missense_Mutation_p.N151S|CNOT6_uc010jle.2_Missense_Mutation_p.N151S	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	151					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				0	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)		CGGCTGCTGAACTATTTGCTT	0.328													G	179991555	A	G	179991555	3	3	195	1	0	0	0	0	1	0	0	0	3622	43	2	3	466	3	CNOT6	5	179991555	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	789843	179991555	923705	563	107667											
EXOC2	55770	broad.mit.edu	37	chr6	599181	599181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaatctgccttgtctttccGacctaatacttcttgaaaca	6	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:599181G>A	uc003mtd.2	-	8	921	c.787C>T	c.(787-789)CGG>TGG	p.R263W	EXOC2_uc003mte.2_Missense_Mutation_p.R263W|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	263					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	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)		TTGTCTTTCCGACCTAATACT	0.338													A	599181	G	A	599181	3	1	195	1	0	0	0	0	1	0	0	0	5302	1057	37	1	2071	1	EXOC2	6	599181	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08		599181	170515886	564	107668											
PRPF4B	8899	broad.mit.edu	37	chr6	4037685	4037685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagatcaaaagatgccagCcccatcaatagatggtctcc	8	11	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:4037685C>T	uc003mvv.2	+	3	1384	c.1293C>T	c.(1291-1293)AGC>AGT	p.S431S	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	431	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGATGCCAGCCCCATCAATA	0.428													T	4037685	C	T	4037685	2	4	195	1	0	0	0	0	0	0	0	1	12573	738	26	2		2	PRPF4B	6	4037685	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3438504	4037685	167077382	565	107669											
PECI	10455	broad.mit.edu	37	chr6	4117629	4117629	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttcagtaacaagtccTtgagcacatgcctctcccgc	6	14	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:4117629T>C	uc003mwf.2	-	9	979	c.942A>G	c.(940-942)CAA>CAG	p.Q314Q	C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Silent_p.Q147Q|PECI_uc003mwd.2_Silent_p.Q284Q|PECI_uc003mwe.2_Silent_p.Q161Q|PECI_uc010jnr.1_RNA	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	314	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAACAAGTCCTTGAGCACATG	0.403													C	4117629	T	C	4117629	2	2	195	1	0	0	0	0	0	0	0	1	11716	1606	56	3		3	PECI	6	4117629	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	79944	4117629	166997438	566	107670											
CDYL	9425	broad.mit.edu	37	chr6	4892486	4892486	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggaaaagccggtcggAgctttattgggccccggtgc	16	11	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:4892486A>G	uc003mwi.2	+	4	857	c.726A>G	c.(724-726)GGA>GGG	p.G242G	CDYL_uc003mwj.2_Silent_p.G188G|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Silent_p.G56G|CDYL_uc011dhy.1_Silent_p.G56G	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	242					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGCCGGTCGGAGCTTTATTGG	0.652													G	4892486	A	G	4892486	2	3	195	1	0	0	0	0	0	0	0	1	3185	291	11	3		3	CDYL	6	4892486	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	774857	4892486	166222581	567	107671											
MAK	4117	broad.mit.edu	37	chr6	10796519	10796519	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctaatacctgaccaacTtgaaaatatgggtgtttcaa	9	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:10796519T>G	uc003mzl.2	-	8	1084	c.855A>C	c.(853-855)CAA>CAC	p.Q285H	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.Q285H|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	285					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CCTGACCAACTTGAAAATATG	0.373													G	10796519	T	G	10796519	3	3	195	1	0	0	0	0	1	0	0	0	9197	1606	56	5	1040	5	MAK	6	10796519	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	5904033	10796519	160318548	568	107672											
SIRT5	23408	broad.mit.edu	37	chr6	13584404	13584404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatattgtggcctgaagcCtccagcgtccacacgaaacc	9	14	0	1	rs113600137		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:13584404C>A	uc003nay.2	+	3	358	c.62C>A	c.(61-63)CCT>CAT	p.P21H	SIRT5_uc003naw.2_Missense_Mutation_p.P21H|SIRT5_uc003nax.2_5'UTR|SIRT5_uc011dit.1_Missense_Mutation_p.P21H	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	21					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GGCCTGAAGCCTCCAGCGTCC	0.488													A	13584404	C	A	13584404	3	1	195	1	0	0	0	0	1	0	0	0	14341	681	24	5	64	5	SIRT5	6	13584404	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2787885	13584404	157530663	569	107673											
JARID2	3720	broad.mit.edu	37	chr6	15496926	15496926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgaagaaggaagtgccGgagcgcagtctggagaggaa	17	7	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:15496926G>A	uc003nbj.2	+	7	1714	c.1470G>A	c.(1468-1470)CCG>CCA	p.P490P	JARID2_uc011diu.1_Silent_p.P354P|JARID2_uc011div.1_Silent_p.P318P|JARID2_uc011diw.1_Silent_p.P452P	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	490					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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGAAGTGCCGGAGCGCAGTC	0.657													A	15496926	G	A	15496926	2	1	195	1	0	0	0	0	0	0	0	1	7945	1103	39	1		1	JARID2	6	15496926	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1912522	15496926	155618141	570	107674											
LRRC16A	55604	broad.mit.edu	37	chr6	25515955	25515955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcaagactgaggtcaccaTcatcatcaatgccctgggaa	8	12	5	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:25515955T>C	uc011djw.1	+	21	2061	c.1685T>C	c.(1684-1686)ATC>ACC	p.I562T	LRRC16A_uc010jpx.2_Missense_Mutation_p.I562T|LRRC16A_uc010jpy.2_Missense_Mutation_p.I562T	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	562	LRR 8.				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GAGGTCACCATCATCATCAAT	0.552													C	25515955	T	C	25515955	3	2	195	1	0	0	0	0	1	0	0	0	8971	1435	50	3	1767	3	LRRC16A	6	25515955	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	10019029	25515955	145599112	571	107675											
SLC17A2	10246	broad.mit.edu	37	chr6	25921412	25921412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtatctggatacctgggCcatgccctggactgtccgaa	11	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:25921412C>T	uc011dkb.1	-	3	552	c.469G>A	c.(469-471)GCC>ACC	p.A157T	SLC17A2_uc011dkc.1_Missense_Mutation_p.A157T|SLC17A2_uc003nfl.2_Missense_Mutation_p.A157T			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	157					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GATACCTGGGCCATGCCCTGG	0.448													T	25921412	C	T	25921412	3	4	195	1	0	0	0	0	1	0	0	0	14417	739	26	2	873	2	SLC17A2	6	25921412	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	405457	25921412	145193655	572	107676											
BTN3A3	10384	broad.mit.edu	37	chr6	26452153	26452153	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagaggaaaaaaggttgggtCaaaatgacaccggagaacgg	15	5	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:26452153C>T	uc003nhz.2	+	11	1449	c.1269C>T	c.(1267-1269)GTC>GTT	p.V423V	BTN3A3_uc003nia.2_Silent_p.V381V|BTN3A3_uc011dkn.1_Silent_p.V374V	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	423	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0						AAGGTTGGGTCAAAATGACAC	0.498													T	26452153	C	T	26452153	2	4	195	1	0	0	0	0	0	0	0	1	1564	813	29	4		4	BTN3A3	6	26452153	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	530741	26452153	144662914	573	107677											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28219672	28219674	+	In_Frame_Del	DEL	CTT	CTT	-													gtcaaggcggaggcttcctcCttctccaccttcacggtcag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:28219671_28219673CCTT>C	uc003nks.1	-	0	330_332	c.86_88AAGG>G	c.(85-90)aaggag>aGag	p.29_30KE>R	ZKSCAN4_uc011dlb.1_Intron	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	29					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						GAGGCTTCCTCCTTCTCCACCTT	0.655													-	28219674	CTT	-	28219672	7	5	195	1	0	1	0	1	0	0	0	0	17686	680	24	0	1570	0	ZKSCAN4	6	28219672	In_Frame_Del	DEL	CTT	TCGA-CG-5728-01A-11D-1600-08	1767519	28219672	142895395	574	107678											
PGBD1	84547	broad.mit.edu	37	chr6	28269630	28269631	+	Frame_Shift_Ins	INS	-	-	A													tatgaatgtagaacatatgaINSaaaaaatgaagagagggtat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:28269629_28269630G>GA	uc003nky.3	+	6	2418_2419	c.1998_1999G>GA	c.(1996-2001)atgaaafs	p.M666fs	PGBD1_uc003nkz.3_Frame_Shift_Ins_p.M666fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	666					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						TAGAACATATGAAAAAAATGAA	0.391													A	28269631	-	A	28269630	7	5	195	1	0	1	1	0	0	0	0	0	11780	247	9	0	2021	0	PGBD1	6	28269630	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	49958	28269630	142845437	575	107679											
SCAND3	114821	broad.mit.edu	37	chr6	28547153	28547153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaatccagagggatcAtttcttccatagaaacttcc	7	10	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:28547153A>G	uc003nlo.2	-	2	1082	c.464T>C	c.(463-465)ATG>ACG	p.M155T		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	155					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAGAGGGATCATTTCTTCCAT	0.433													G	28547153	A	G	28547153	3	3	195	1	0	0	0	0	1	0	0	0	13876	217	8	3	3525	3	SCAND3	6	28547153	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	277523	28547153	142567914	576	107680											
ZNF311	282890	broad.mit.edu	37	chr6	28964030	28964030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtttttgccacacctgGcacattcatggagtttctgt	9	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:28964030G>A	uc003nlu.2	-	7	1262	c.749C>T	c.(748-750)GCC>GTC	p.A250V	ZNF311_uc011dlk.1_Missense_Mutation_p.A158V|ZNF311_uc003nlv.2_Missense_Mutation_p.A158V	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	250	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GCCACACCTGGCACATTCATG	0.383													A	28964030	G	A	28964030	3	1	195	1	0	0	0	0	1	0	0	0	17831	1203	42	2	1255	2	ZNF311	6	28964030	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	416877	28964030	142151037	577	107681											
TRIM26	7726	broad.mit.edu	37	chr6	30166679	30166679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctggccagttgccacaCgggtcggatgttctccttct	12	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:30166679C>T	uc003npr.2	-	3	411	c.202G>A	c.(202-204)GTG>ATG	p.V68M	TRIM26_uc003nps.2_Missense_Mutation_p.V68M|TRIM26_uc010jry.2_Translation_Start_Site|TRIM26_uc003npt.2_Missense_Mutation_p.V68M|TRIM26_uc003npu.1_Missense_Mutation_p.V68M	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	68							DNA binding|zinc ion binding			ovary(2)|lung(1)	3						AGTTGCCACACGGGTCGGATG	0.622													T	30166679	C	T	30166679	3	4	195	1	0	0	0	0	1	0	0	0	16497	536	19	1	1445	1	TRIM26	6	30166679	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1202649	30166679	140948388	578	107682											
PPP1R10	5514	broad.mit.edu	37	chr6	30571948	30571948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttatcatggctcagacGccgcgctgtctcaaatgcat	9	12	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:30571948G>A	uc003nqn.1	-	14	1897	c.1345C>T	c.(1345-1347)CGT>TGT	p.R449C	PPP1R10_uc010jsc.1_Missense_Mutation_p.R103C	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	449	Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TGGCTCAGACGCCGCGCTGTC	0.557													A	30571948	G	A	30571948	3	1	195	1	0	0	0	0	1	0	0	0	12352	1087	38	1	1505	1	PPP1R10	6	30571948	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	405269	30571948	140543119	579	107683											
MDC1	9656	broad.mit.edu	37	chr6	30673671	30673671	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggtggaaaggctccagctCtgaggacaagggagcctctg	16	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:30673671C>A	uc003nrg.3	-	10	3729	c.3289G>T	c.(3289-3291)GAG>TAG	p.E1097*	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Nonsense_Mutation_p.E704*	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1097	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)|ovary(1)|kidney(1)	4						GGCTCCAGCTCTGAGGACAAG	0.547								Other_conserved_DNA_damage_response_genes					A	30673671	C	A	30673671	4	1	195	1	0	0	0	0	0	1	0	0	9403	922	32	5	3004	5	MDC1	6	30673671	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	101723	30673671	140441396	580	107684											
POU5F1	5460	broad.mit.edu	37	chr6	31133735	31133735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggtgagccccacatcGgcctgtgtatatcccagggt	12	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:31133735G>A	uc003nsv.2	-	2	549	c.495C>T	c.(493-495)GCC>GCT	p.A165A	POU5F1_uc003nsu.2_Silent_p.A70A|uc011dnf.1_RNA	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	POU domain, class 5, transcription factor 1	165	POU-specific.				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|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)	skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1)	13						GCCCCACATCGGCCTGTGTAT	0.532			T	EWSR1	sarcoma								A	31133735	G	A	31133735	2	1	195	1	0	0	0	0	0	0	0	1	12281	1103	39	1		1	POU5F1	6	31133735	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	460064	31133735	139981332	581	107685											
HLA-B	3106	broad.mit.edu	37	chr6	31322412	31322412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacccccaccacttacacGcagcctgagagtagctccct	6	20	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:31322412G>A	uc003nth.2	-	6	1097	c.1043C>T	c.(1042-1044)GCG>GTG	p.A348V	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.A227V|HLA-B_uc003nti.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	348	Cytoplasmic (Potential).				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				0						CCACTTACACGCAGCCTGAGA	0.572									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				A	31322412	G	A	31322412	3	1	195	1	0	0	0	0	1	0	0	0	7196	1087	38	1	53	1	HLA-B	6	31322412	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	188677	31322412	139792655	582	107686											
AIF1	199	broad.mit.edu	37	chr6	31583458	31583458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccatagcaattcctagaCgatcccaaatatagcagtga	6	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:31583458C>T	uc003nuy.2	+	3	173	c.99C>T	c.(97-99)GAC>GAT	p.D33D	AIF1_uc010jsy.2_Translation_Start_Site|AIF1_uc003nva.2_5'Flank	NM_001623	NP_001614	P55008	AIF1_HUMAN	allograft inflammatory factor 1 isoform 3	33				D -> H (in Ref. 2; AAA92457).	actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			ovary(1)	1						AATTCCTAGACGATCCCAAAT	0.562													T	31583458	C	T	31583458	2	4	195	1	0	0	0	0	0	0	0	1	424	535	19	1		1	AIF1	6	31583458	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	261046	31583458	139531609	583	107687											
C2	717	broad.mit.edu	37	chr6	31868916	31868916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactggtcccgcaggaagGgtgagcaggcggccaagatg	18	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:31868916G>T	uc011dop.1	+	1	141	c.73G>T	c.(73-75)GCT>TCT	p.A25S	C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|ZBTB12_uc003nyd.1_Missense_Mutation_p.P56H	NM_001145903	NP_001139375	P06681	CO2_HUMAN	complement component 2 isoform 2 preproprotein	148					complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCGCAGGAAGGGTGAGCAGGC	0.622													T	31868916	G	T	31868916	3	4	195	1	0	0	0	0	1	0	0	0	2074	1246	43	5	75	5	C2	6	31868916	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	285458	31868916	139246151	584	107688											
TNXB	7148	broad.mit.edu	37	chr6	32011609	32011609	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcatagcgagcgcctgggAtcagcccctggagtttctgg	13	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:32011609A>T	uc003nzl.2	-	35	11643	c.11441T>A	c.(11440-11442)ATC>AAC	p.I3814N	TNXB_uc003nzg.1_Missense_Mutation_p.I245N|TNXB_uc003nzh.1_Missense_Mutation_p.I283N	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3861	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AGCGCCTGGGATCAGCCCCTG	0.622													T	32011609	A	T	32011609	3	4	195	1	0	0	0	0	1	0	0	0	16343	333	12	5	3312	5	TNXB	6	32011609	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	142693	32011609	139103458	585	107689											
PRRT1	80863	broad.mit.edu	37	chr6	32117369	32117369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaagcaacagatggtgGtcagcaccgcgatgggcatg	15	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:32117369G>A	uc003nzt.2	-	3	805	c.689C>T	c.(688-690)ACC>ATC	p.T230I	PRRT1_uc003nzs.2_Missense_Mutation_p.T271I|PRRT1_uc003nzu.2_Silent_p.D122D	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	230	Helical; (Potential).				response to biotic stimulus	integral to membrane				breast(1)	1						ACAGATGGTGGTCAGCACCGC	0.672													A	32117369	G	A	32117369	3	1	195	1	0	0	0	0	1	0	0	0	12609	1261	44	4	239	4	PRRT1	6	32117369	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	105760	32117369	138997698	586	107690											
EGFL8	80864	broad.mit.edu	37	chr6	32134513	32134513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtggcgggaggtgaggcGggaggttcagcagacccatg	19	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:32134513G>A	uc003oab.1	+	4	318	c.260G>A	c.(259-261)CGG>CAG	p.R87Q	PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.R87Q	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	NG3 protein precursor	87	EMI.					extracellular region|integral to membrane	calcium ion binding				0						GAGGTGAGGCGGGAGGTTCAG	0.652													A	32134513	G	A	32134513	3	1	195	1	0	0	0	0	1	0	0	0	4965	1116	39	1	270	1	EGFL8	6	32134513	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	17144	32134513	138980554	587	107691											
ZBTB9	221504	broad.mit.edu	37	chr6	33424006	33424006	+	Frame_Shift_Del	DEL	C	C	-													ctgtgaagctaggggggacaCcccctgcagatggaaaacgc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:33424005_33424005AC>A	uc003oeq.3	+	1	1396	c.1128_1128AC>A	c.(1126-1128)acafs	p.T376fs	ZBTB9_uc021ywp.1_Frame_Shift_Del_p.T376fs	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	376	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TAGGGGGGACACCCCCTGCAG	0.597													-	33424006	C	-	33424006	7	5	195	1	0	1	0	1	0	0	0	0	17555	507	18	0	1131	0	ZBTB9	6	33424006	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	1289493	33424006	137691061	588	107692											
IP6K3	117283	broad.mit.edu	37	chr6	33693227	33693227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgacctacctgcatgccGcagatgcgcacacccaggca	10	17	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:33693227G>A	uc010jvf.2	-	6	1292	c.756C>T	c.(754-756)TGC>TGT	p.C252C	IP6K3_uc003ofb.2_Silent_p.C252C	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	252					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				0						CCTGCATGCCGCAGATGCGCA	0.667													A	33693227	G	A	33693227	2	1	195	1	0	0	0	0	0	0	0	1	7790	1079	38	1		1	IP6K3	6	33693227	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	269221	33693227	137421840	589	107693											
IP6K3	117283	broad.mit.edu	37	chr6	33703227	33703227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcctgccctcatgtccccGgcgtctgcgctgttttgcac	10	17	2	0	rs150212654		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:33703227G>A	uc010jvf.2	-	3	563	c.27C>T	c.(25-27)GCC>GCT	p.A9A	IP6K3_uc003ofb.2_Silent_p.A9A	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	9					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				0						TCATGTCCCCGGCGTCTGCGC	0.617													A	33703227	G	A	33703227	2	1	195	1	0	0	0	0	0	0	0	1	7790	1103	39	1		1	IP6K3	6	33703227	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	10000	33703227	137411840	590	107694											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839369	34839369	+	Frame_Shift_Del	DEL	C	C	-													tctttcctgcaggatgatatCccccccatctatccaacatc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:34839368_34839368TC>T	uc003oju.4	+	18	4223	c.3989_3989TC>T	c.(3988-3990)atcfs	p.I1330fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATC	0.512													-	34839369	C	-	34839369	7	5	195	1	0	1	0	1	0	0	0	0	16965	845	30	0	4064	0	UHRF1BP1	6	34839369	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	1136142	34839369	136275698	591	107695											
LHFPL5	222662	broad.mit.edu	37	chr6	35773664	35773664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctactgcgtgggtaacgtgCtgtcctccgagctcatctgc	11	14	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:35773664C>A	uc003olg.1	+	1	594	c.217C>A	c.(217-219)CTG>ATG	p.L73M		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	73	Helical; (Potential).					integral to membrane				skin(1)	1						GGGTAACGTGCTGTCCTCCGA	0.587													A	35773664	C	A	35773664	3	1	195	1	0	0	0	0	1	0	0	0	8768	796	28	5	219	5	LHFPL5	6	35773664	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	934295	35773664	135341403	592	107696											
BRPF3	27154	broad.mit.edu	37	chr6	36198280	36198280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaagatgctggaaggccGcaagaccagcatccgcaagt	12	12	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:36198280G>A	uc003olv.3	+	13	3736	c.3512G>A	c.(3511-3513)CGC>CAC	p.R1171H	BRPF3_uc010jwb.2_Missense_Mutation_p.R901H|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R837H|BRPF3_uc010jwd.2_Missense_Mutation_p.R73H	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1171					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CTGGAAGGCCGCAAGACCAGC	0.582													A	36198280	G	A	36198280	3	1	195	1	0	0	0	0	1	0	0	0	1521	1087	38	1	3558	1	BRPF3	6	36198280	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	424616	36198280	134916787	593	107697											
ZFAND3	60685	broad.mit.edu	37	chr6	38120049	38120049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatcgcctccccgagcagCacgactgcacattcgaccac	7	18	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:38120049C>T	uc003onx.2	+	6	983	c.568C>T	c.(568-570)CAC>TAC	p.H190Y		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	190	AN1-type.						DNA binding|zinc ion binding			ovary(1)	1						CCCCGAGCAGCACGACTGCAC	0.597													T	38120049	C	T	38120049	3	4	195	1	0	0	0	0	1	0	0	0	17626	710	25	2	590	2	ZFAND3	6	38120049	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1921769	38120049	132995018	594	107698											
KCNK5	8645	broad.mit.edu	37	chr6	39159505	39159505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagtagcggtacagggCgtggtagttggcgctggggt	19	7	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:39159505C>T	uc003oon.2	-	5	1025	c.661G>A	c.(661-663)GCC>ACC	p.A221T		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	221					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CGGTACAGGGCGTGGTAGTTG	0.567													T	39159505	C	T	39159505	3	4	195	1	0	0	0	0	1	0	0	0	8069	768	27	1	842	1	KCNK5	6	39159505	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1039456	39159505	131955562	595	107699											
KIF6	221458	broad.mit.edu	37	chr6	39693056	39693056	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggacagggggcttcacccTcgcgaatatctggatagtct	12	12	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:39693056T>G	uc003oot.2	-	1	126	c.31A>C	c.(31-33)AGG>CGG	p.R11R	KIF6_uc011dua.1_Silent_p.R11R|KIF6_uc010jxb.1_Silent_p.R11R	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	11	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GGCTTCACCCTCGCGAATATC	0.552													G	39693056	T	G	39693056	2	3	195	1	0	0	0	0	0	0	0	1	8308	1550	54	5		5	KIF6	6	39693056	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	533551	39693056	131422011	596	107700											
CUL7	9820	broad.mit.edu	37	chr6	43017887	43017887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgggcctccagcgccaGgcaggcagggctgtgaaaat	15	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:43017887G>A	uc003otq.2	-	6	1686	c.1383C>T	c.(1381-1383)GCC>GCT	p.A461A	CUL7_uc011dvb.1_Silent_p.A545A|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	461					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			TCCAGCGCCAGGCAGGCAGGG	0.577													A	43017887	G	A	43017887	2	1	195	1	0	0	0	0	0	0	0	1	4060	987	35	4		4	CUL7	6	43017887	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3324831	43017887	128097180	597	107701											
CUL9	23113	broad.mit.edu	37	chr6	43181612	43181612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtattctcaaagcccatGgggaaaagggcctccacatt	9	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:43181612G>A	uc003ouk.2	+	29	5725	c.5650G>A	c.(5650-5652)GGG>AGG	p.G1884R	CUL9_uc003oul.2_Missense_Mutation_p.G1856R|CUL9_uc010jyk.2_Missense_Mutation_p.G1036R|CUL9_uc003oun.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1884					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CAAAGCCCATGGGGAAAAGGG	0.532													A	43181612	G	A	43181612	3	1	195	1	0	0	0	0	1	0	0	0	4061	1348	47	4	5760	4	CUL9	6	43181612	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	163725	43181612	127933455	598	107702											
RUNX2	860	broad.mit.edu	37	chr6	45390650	45390650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcctgtgctcggtgctgCcctcgcactggcgctgcaac	11	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:45390650C>A	uc011dvx.1	+	3	589	c.379C>A	c.(379-381)CCC>ACC	p.P127T	RUNX2_uc011dvy.1_Missense_Mutation_p.P127T|RUNX2_uc003oxt.2_Missense_Mutation_p.P113T	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	127	Runt.				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			ovary(2)|skin(1)	3						CTCGGTGCTGCCCTCGCACTG	0.572													A	45390650	C	A	45390650	3	1	195	1	0	0	0	0	1	0	0	0	13748	739	26	5	401	5	RUNX2	6	45390650	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2209038	45390650	125724417	599	107703											
TFAP2D	83741	broad.mit.edu	37	chr6	50696582	50696582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaggtggcacctgtgtGgtcaaccccacagacttatt	9	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:50696582G>A	uc003paf.2	+	4	1124	c.612G>A	c.(610-612)GTG>GTA	p.V204V	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	204							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					GCACCTGTGTGGTCAACCCCA	0.443													A	50696582	G	A	50696582	2	1	195	1	0	0	0	0	0	0	0	1	15787	1335	47	4		4	TFAP2D	6	50696582	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5305932	50696582	120418485	600	107704											
DST	667	broad.mit.edu	37	chr6	56382399	56382399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaatccaggataactcaGcatcagctgcttggtcaaac	8	11	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:56382399G>A	uc003pdf.2	-	64	11820	c.11792C>T	c.(11791-11793)GCT>GTT	p.A3931V	DST_uc003pcz.3_Missense_Mutation_p.A3753V|DST_uc011dxj.1_Missense_Mutation_p.A3782V|DST_uc011dxk.1_Missense_Mutation_p.A3793V|DST_uc003pcy.3_Missense_Mutation_p.A3427V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5839	Spectrin 10.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATAACTCAGCATCAGCTGC	0.393													A	56382399	G	A	56382399	3	1	195	1	0	0	0	0	1	0	0	0	4783	971	34	2	5371	2	DST	6	56382399	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5685817	56382399	114732668	601	107705											
DST	667	broad.mit.edu	37	chr6	56499695	56499695	+	Frame_Shift_Del	DEL	T	T	-													agttgaattattgtttttgcTtttcccattaggtttgctat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:56499694_56499694CT>C	uc003pcy.4	-	10	1741	c.1633_1633AG>G	c.(1633-1635)gcafs	p.A545fs	DST_uc021zay.1_Frame_Shift_Del_p.A911fs|DST_uc021zax.1_Frame_Shift_Del_p.A545fs|DST_uc003pdc.4_Frame_Shift_Del_p.A545fs|DST_uc003pdd.4_Frame_Shift_Del_p.A545fs	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	871					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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)			ATTGTTTTTGCTTTTCCCATT	0.343													-	56499695	T	-	56499695	7	5	195	1	0	1	0	1	0	0	0	0	4783	1606	56	0	18819	0	DST	6	56499695	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	117296	56499695	114615372	602	107706											
KHDRBS2	202559	broad.mit.edu	37	chr6	62887178	62887178	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caagatacttcttttcttcgTcttccttttttccatcagaa	3	11	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:62887178T>A	uc003peg.2	-	2	378	c.131A>T	c.(130-132)GAC>GTC	p.D44V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTTTCTTCGTCTTCCTTTTT	0.338													A	62887178	T	A	62887178	3	1	195	1	0	0	0	0	1	0	0	0	8147	1667	58	5	950	5	KHDRBS2	6	62887178	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	6387483	62887178	108227889	603	107707											
EYS	346007	broad.mit.edu	37	chr6	66205125	66205125	+	Frame_Shift_Del	DEL	A	A	-													ctattttagtgtttacacccAaaaaccagcaatctctgtag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:66205124_66205124CA>C	uc011dxu.1	-	3	718	c.180_180TG>G	c.(178-180)ttgfs	p.L60fs	EYS_uc003peq.3_Frame_Shift_Del_p.L60fs|EYS_uc003per.1_Frame_Shift_Del_p.L60fs|EYS_uc021zbn.1_Frame_Shift_Del_p.L60fs|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	60					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						TGTTTACACCCAAAAACCAGC	0.388													-	66205125	A	-	66205125	7	5	195	1	0	1	0	1	0	0	0	0	5332	131	5	0	9377	0	EYS	6	66205125	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	3317947	66205125	104909942	604	107708											
COL9A1	1297	broad.mit.edu	37	chr6	71004218	71004218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttccagtcattcgaaaCgtcgtcaagaaggagtattc	10	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:71004218C>T	uc003pfg.3	-	5	507	c.348G>A	c.(346-348)ACG>ACA	p.T116T		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	116	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						TCATTCGAAACGTCGTCAAGA	0.393													T	71004218	C	T	71004218	2	4	195	1	0	0	0	0	0	0	0	1	3707	523	19	1		1	COL9A1	6	71004218	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4799093	71004218	100110849	605	107709											
COL12A1	1303	broad.mit.edu	37	chr6	75893269	75893269	+	Frame_Shift_Del	DEL	A	A	-													aactttttacaagaacttccAaaaaggctctaactttaaca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:75893268_75893268CA>C	uc021zbv.1	-	8	1424	c.1389_1389TG>G	c.(1387-1389)ttgfs	p.L463fs	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.L463fs|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Frame_Shift_Del_p.L121fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	463	VWFA 2.				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						CAAGAACTTCCAAAAAGGCTC	0.373													-	75893269	A	-	75893269	7	5	195	1	0	1	0	1	0	0	0	0	3669	131	5	0	8031	0	COL12A1	6	75893269	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4889051	75893269	95221798	606	107710											
SENP6	26054	broad.mit.edu	37	chr6	76425169	76425169	+	Frame_Shift_Del	DEL	A	A	-													cctccaccaagaatgagaacAaaaagagaagaaatccgaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:76425168_76425168CA>C	uc003pid.4	+	23	3816	c.3197_3197CA>C	c.(3196-3198)acafs	p.T1066fs	SENP6_uc003pie.4_Frame_Shift_Del_p.T1059fs|SENP6_uc010kbf.3_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	1066	Protease.				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)				AGAATGAGAACAAAAAGAGAA	0.348													-	76425169	A	-	76425169	7	5	195	1	0	1	0	1	0	0	0	0	14050	117	5	0	3292	0	SENP6	6	76425169	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	531900	76425169	94689898	607	107711											
IBTK	25998	broad.mit.edu	37	chr6	82949955	82949956	+	Frame_Shift_Del	DEL	TT	TT	-													aatgctgtccatccagactcTttgtctttcaccaacagatc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:82949954_82949955CTT>C	uc003pjl.1	-	1	776_777	c.249_250AAG>G	c.(247-252)aaagagfs	p.K83fs	IBTK_uc011dyv.1_Frame_Shift_Del_p.K83fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K83fs|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Frame_Shift_Del_p.K83fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	83					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)		CATCCAGACTCTTTGTCTTTCA	0.386													-	82949956	TT	-	82949955	7	5	195	1	0	1	0	1	0	0	0	0	7476	1606	56	0	3924	0	IBTK	6	82949955	Frame_Shift_Del	DEL	TT	TCGA-CG-5728-01A-11D-1600-08	6524786	82949955	88165112	608	107712											
RNGTT	8732	broad.mit.edu	37	chr6	89614482	89614482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaagaagcacttgacccGggttctgattccttctttcc	7	13	2	3	rs144619191	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:89614482G>A	uc003pmr.2	-	6	856	c.636C>T	c.(634-636)CCC>CCT	p.P212P	RNGTT_uc003pms.2_Silent_p.P212P|RNGTT_uc011dzu.1_Silent_p.P152P|RNGTT_uc003pmt.2_Silent_p.P212P	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	212	TPase.			P -> T (in Ref. 6; AAH19954).	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			upper_aerodigestive_tract(1)	1		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)		CACTTGACCCGGGTTCTGATT	0.393													A	89614482	G	A	89614482	2	1	195	1	0	0	0	0	0	0	0	1	13503	1103	39	1		1	RNGTT	6	89614482	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6664527	89614482	81500585	609	107713											
BACH2	60468	broad.mit.edu	37	chr6	90661494	90661494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggaactcagcacagcGgatgacctcgcggatgtttt	13	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:90661494G>A	uc011eab.1	-	7	1140	c.331C>T	c.(331-333)CGC>TGC	p.R111C	BACH2_uc003pnw.2_Missense_Mutation_p.R111C|BACH2_uc010kch.2_Missense_Mutation_p.R111C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	111						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		TCAGCACAGCGGATGACCTCG	0.562													A	90661494	G	A	90661494	3	1	195	1	0	0	0	0	1	0	0	0	1284	1116	39	1	2206	1	BACH2	6	90661494	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1047012	90661494	80453573	610	107714											
USP45	85015	broad.mit.edu	37	chr6	99894246	99894246	+	Frame_Shift_Del	DEL	C	C	-													gctggcaaacattaaagaatCcccattcatttcaaggtttt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:99894245_99894245TC>T	uc003ppx.2	-	13	1936	c.1403_1403GA>A	c.(1402-1404)gatfs	p.D468fs	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Frame_Shift_Del_p.D148fs	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	468					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)		CATTAAAGAATCCCCATTCAT	0.373													-	99894246	C	-	99894246	7	5	195	1	0	1	0	1	0	0	0	0	17073	855	30	0	1062	0	USP45	6	99894246	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	9232752	99894246	71220821	611	107715											
SIM1	6492	broad.mit.edu	37	chr6	100838484	100838484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtctcctgctgtctgaTgaggagatatatccgaatgc	13	8	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:100838484T>C	uc003pqj.3	-	11	2261	c.2054A>G	c.(2053-2055)CAT>CGT	p.H685R	SIM1_uc010kcu.2_Missense_Mutation_p.H685R	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	685	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		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)		TGCTGTCTGATGAGGAGATAT	0.463													C	100838484	T	C	100838484	3	2	195	1	0	0	0	0	1	0	0	0	14323	1464	51	3	250	3	SIM1	6	100838484	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	944238	100838484	70276583	612	107716											
HACE1	57531	broad.mit.edu	37	chr6	105198303	105198303	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcattgatctgaggctgaatGgctcttgtcattcgaagttc	11	8	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:105198303G>T	uc003pqu.1	-	20	2533	c.2256C>A	c.(2254-2256)GCC>GCA	p.A752A	HACE1_uc010kcy.1_Silent_p.A234A|HACE1_uc010kcz.1_Silent_p.A537A|HACE1_uc010kcx.1_Silent_p.A161A|HACE1_uc003pqt.1_Silent_p.A405A	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	752	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		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)		GAGGCTGAATGGCTCTTGTCA	0.373													T	105198303	G	T	105198303	2	4	195	1	0	0	0	0	0	0	0	1	6940	1335	47	5		5	HACE1	6	105198303	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4359819	105198303	65916764	613	107717											
SEC63	11231	broad.mit.edu	37	chr6	108222672	108222672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgcagtagagtgtgaCgatctgattcttttaaactc	11	6	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:108222672C>T	uc003psc.3	-	13	1528	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	SEC63_uc003psb.3_Missense_Mutation_p.R280H	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	420	SEC63 1.|Cytoplasmic (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		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)		TAGAGTGTGACGATCTGATTC	0.328													T	108222672	C	T	108222672	3	4	195	1	0	0	0	0	1	0	0	0	14005	536	19	1	1059	1	SEC63	6	108222672	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3024369	108222672	62892395	614	107718											
FOXO3	2309	broad.mit.edu	37	chr6	108985139	108985139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacggtggaactgccacGgctgactgatatggcaggca	15	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:108985139G>A	uc003psk.2	+	3	1419	c.1103G>A	c.(1102-1104)CGG>CAG	p.R368Q	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.R368Q|FOXO3_uc011ean.1_Missense_Mutation_p.R148Q|FOXO3_uc010kdj.1_Missense_Mutation_p.R148Q	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	368					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GAACTGCCACGGCTGACTGAT	0.572													A	108985139	G	A	108985139	3	1	195	1	0	0	0	0	1	0	0	0	6024	1116	39	1	1109	1	FOXO3	6	108985139	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	762467	108985139	62129928	615	107719											
ARMC2	84071	broad.mit.edu	37	chr6	109294701	109294701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccttcctggaacccctgcCcattccctctttctaacatg	4	18	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:109294701C>A	uc003pss.3	+	18	2762	c.2588C>A	c.(2587-2589)CCC>CAC	p.P863H	ARMC2_uc011eao.1_Missense_Mutation_p.P698H	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	863							binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GAACCCCTGCCCATTCCCTCT	0.418													A	109294701	C	A	109294701	3	1	195	1	0	0	0	0	1	0	0	0	951	623	22	5	2654	5	ARMC2	6	109294701	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	309562	109294701	61820366	616	107720											
HS3ST5	222537	broad.mit.edu	37	chr6	114379084	114379084	+	Frame_Shift_Del	DEL	A	A	-													ccataattctcatcattatcAaaaaagtggatttcttgaga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:114379083_114379083CA>C	uc003pwg.4	-	1	411	c.379_379TG>G	c.(379-381)gatfs	p.D127fs	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Frame_Shift_Del_p.D127fs	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	127					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)		TCATCATTATCAAAAAAGTGG	0.423													-	114379084	A	-	114379084	7	5	195	1	0	1	0	1	0	0	0	0	7368	127	5	0	666	0	HS3ST5	6	114379084	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	5084383	114379084	56735983	617	107721											
FAM184A	79632	broad.mit.edu	37	chr6	119345777	119345777	+	Frame_Shift_Del	DEL	T	T	-													tgtcaaagcctgctgcttcaTttttatgtgatcttctaatg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:119345776_119345776AT>A	uc003pyj.3	-	1	710	c.362_362AT>T	c.(361-363)atgfs	p.M121fs	FAM184A_uc003pyk.4_Frame_Shift_Del_p.M1fs|FAM184A_uc003pyl.4_Frame_Shift_Del_p.M1fs	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	121										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGCTGCTTCATTTTTATGTG	0.378													-	119345777	T	-	119345777	7	5	195	1	0	1	0	1	0	0	0	0	5511	1493	52	0	3129	0	FAM184A	6	119345777	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	4966693	119345777	51769290	618	107722											
GJA1	2697	broad.mit.edu	37	chr6	121768103	121768103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttccgaatcctgctgcTggggacagcggttgagtcag	13	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:121768103T>C	uc003pyr.2	+	2	360	c.110T>C	c.(109-111)CTG>CCG	p.L37P	GJA1_uc011ebo.1_Intron|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	37	Extracellular (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATCCTGCTGCTGGGGACAGCG	0.507													C	121768103	T	C	121768103	3	2	195	1	0	0	0	0	1	0	0	0	6400	1580	55	3	112	3	GJA1	6	121768103	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2422326	121768103	49346964	619	107723											
PTPRK	5796	broad.mit.edu	37	chr6	128316642	128316642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaatataatctgaggaagGatcatcctctacgggttgca	9	7	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:128316642G>A	uc003qbk.2	-	18	3173	c.2806C>T	c.(2806-2808)CCT>TCT	p.P936S	PTPRK_uc003qbj.2_Missense_Mutation_p.P937S|PTPRK_uc010kfc.2_Missense_Mutation_p.P937S|PTPRK_uc011ebu.1_Missense_Mutation_p.P953S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	936	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTGAGGAAGGATCATCCTCT	0.294													A	128316642	G	A	128316642	3	1	195	1	0	0	0	0	1	0	0	0	12805	1174	41	4	1587	4	PTPRK	6	128316642	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6548539	128316642	42798425	620	107724											
LAMA2	3908	broad.mit.edu	37	chr6	129419458	129419458	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacggagtgcctaacgctTtacaatatttatccccgcac	7	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:129419458T>C	uc003qbn.2	+	4	642	c.537T>C	c.(535-537)CTT>CTC	p.L179L	LAMA2_uc003qbo.2_Silent_p.L179L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	179	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCTAACGCTTTACAATATTT	0.483													C	129419458	T	C	129419458	2	2	195	1	0	0	0	0	0	0	0	1	8606	1828	64	3		3	LAMA2	6	129419458	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1102816	129419458	41695609	621	107725											
LAMA2	3908	broad.mit.edu	37	chr6	129813110	129813110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgacagttgaacagcctAtcgaagttaaaaagcttttc	7	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:129813110A>G	uc003qbn.2	+	56	8068	c.7963A>G	c.(7963-7965)ATC>GTC	p.I2655V	LAMA2_uc003qbo.2_Missense_Mutation_p.I2651V|uc003qbq.2_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2655	Laminin G-like 3.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAACAGCCTATCGAAGTTAA	0.373													G	129813110	A	G	129813110	3	3	195	1	0	0	0	0	1	0	0	0	8606	449	16	3	8189	3	LAMA2	6	129813110	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	393652	129813110	41301957	622	107726											
VNN1	8876	broad.mit.edu	37	chr6	133035130	133035131	+	Frame_Shift_Del	DEL	AT	AT	-													tggcagctggctcttgagacAtagaaaagcaaaattgccac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:133035129_133035130CAT>C	uc003qdo.3	-	0	65_66	c.45_46ATG>G	c.(43-48)tatgtcfs	p.Y15fs		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	15					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)		GCTCTTGAGACATAGAAAAGCA	0.47													-	133035131	AT	-	133035130	7	5	195	1	0	1	0	1	0	0	0	0	17179	224	8	0	1524	0	VNN1	6	133035130	Frame_Shift_Del	DEL	AT	TCGA-CG-5728-01A-11D-1600-08	3222020	133035130	38079937	623	107727											
MAP3K5	4217	broad.mit.edu	37	chr6	136913687	136913687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggtgaaactgagccgtActcactgctgctgctggtgt	14	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:136913687A>G	uc003qhc.2	-	22	3305	c.2944T>C	c.(2944-2946)TAC>CAC	p.Y982H	MAP3K5_uc011edj.1_Missense_Mutation_p.Y229H|MAP3K5_uc011edk.1_Missense_Mutation_p.Y828H	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	982					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			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTGAGCCGTACTCACTGCTG	0.502													G	136913687	A	G	136913687	3	3	195	1	0	0	0	0	1	0	0	0	9253	391	14	3	1216	3	MAP3K5	6	136913687	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	3878557	136913687	34201380	624	107728											
IL20RA	53832	broad.mit.edu	37	chr6	137329811	137329811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacgaaggactccacgtGtacgcagtaaagagtgttcg	14	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:137329811G>A	uc003qhj.2	-	5	1082	c.649C>T	c.(649-651)CAC>TAC	p.H217Y	IL20RA_uc011edl.1_Missense_Mutation_p.H168Y|IL20RA_uc003qhk.2_Missense_Mutation_p.H106Y|IL20RA_uc003qhi.2_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	217	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GACTCCACGTGTACGCAGTAA	0.532													A	137329811	G	A	137329811	3	1	195	1	0	0	0	0	1	0	0	0	7668	1377	48	4	1024	4	IL20RA	6	137329811	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	416124	137329811	33785256	625	107729											
TNFAIP3	7128	broad.mit.edu	37	chr6	138201244	138201244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaagtcagtcccacagCgtccaggttccagaacacca	10	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:138201244C>T	uc003qhr.2	+	8	2009	c.1943C>T	c.(1942-1944)GCG>GTG	p.A648V	TNFAIP3_uc003qhs.2_Missense_Mutation_p.A648V	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	648	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?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AGTCCCACAGCGTCCAGGTTC	0.517			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								T	138201244	C	T	138201244	3	4	195	1	0	0	0	0	1	0	0	0	16271	768	27	1	1969	1	TNFAIP3	6	138201244	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	871433	138201244	32913823	626	107730											
GPR126	57211	broad.mit.edu	37	chr6	142718831	142718831	+	Frame_Shift_Del	DEL	A	A	-													atcattcagcagaagctcctAaaaaataatgagtccttgga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:142718830_142718830TA>T	uc010khe.3	+	9	1916	c.1505_1505TA>T	c.(1504-1506)ctafs	p.L502fs	GPR126_uc010khc.3_Frame_Shift_Del_p.L502fs|GPR126_uc010khd.3_Frame_Shift_Del_p.L474fs|GPR126_uc010khf.3_Frame_Shift_Del_p.L474fs	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	502					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGAAGCTCCTAAAAAATAAT	0.363													-	142718831	A	-	142718831	7	5	195	1	0	1	0	1	0	0	0	0	6640	349	13	0	1544	0	GPR126	6	142718831	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4517587	142718831	28396236	627	107731											
FBXO30	84085	broad.mit.edu	37	chr6	146126057	146126057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcccaagtgtctgaaaCggacttggatttgaaagctg	11	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:146126057C>T	uc003qla.2	-	2	1684	c.1485G>A	c.(1483-1485)CCG>CCA	p.P495P	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	495							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GTGTCTGAAACGGACTTGGAT	0.433													T	146126057	C	T	146126057	2	4	195	1	0	0	0	0	0	0	0	1	5740	523	19	1		1	FBXO30	6	146126057	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3407226	146126057	24989010	628	107732											
GRM1	2911	broad.mit.edu	37	chr6	146480484	146480484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgattgtttctggacagGgaattatggggagagcggaa	16	4	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:146480484G>T	uc010khw.1	+	3	1171	c.701G>T	c.(700-702)GGG>GTG	p.G234V	GRM1_uc010khu.1_Missense_Mutation_p.G234V|GRM1_uc010khv.1_Missense_Mutation_p.G234V|GRM1_uc003qll.2_Missense_Mutation_p.G234V|GRM1_uc011edz.1_Missense_Mutation_p.G234V|GRM1_uc011eea.1_Missense_Mutation_p.G234V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	234	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTCTGGACAGGGAATTATGGG	0.478													T	146480484	G	T	146480484	3	4	195	1	0	0	0	0	1	0	0	0	6796	1246	43	5	707	5	GRM1	6	146480484	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	354427	146480484	24634583	629	107733											
C6orf97	80129	broad.mit.edu	37	chr6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcggaagtcccggtcaCgcgggagcagttaaaccact	11	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:151857487C>T	uc003qol.2	+	2	181	c.92C>T	c.(91-93)ACG>ATG	p.T31M		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	31	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GTCCCGGTCACGCGGGAGCAG	0.433													T	151857487	C	T	151857487	3	4	195	1	0	0	0	0	1	0	0	0	2374	536	19	1	98	1	C6orf97	6	151857487	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5377003	151857487	19257580	630	107734											
SYNE1	23345	broad.mit.edu	37	chr6	152776602	152776602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctggatcccccttttcctCcaggccctcctgagcaatcc	6	19	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:152776602C>T	uc010kiw.2	-	24	3453	c.2851G>A	c.(2851-2853)GAG>AAG	p.E951K	SYNE1_uc003qot.3_Missense_Mutation_p.E958K|SYNE1_uc003qou.3_Missense_Mutation_p.E951K|SYNE1_uc010kjb.1_Missense_Mutation_p.E934K|SYNE1_uc003qow.2_Missense_Mutation_p.E246K|SYNE1_uc003qox.1_Missense_Mutation_p.E467K|SYNE1_uc003qoz.2_Missense_Mutation_p.E383K|SYNE1_uc003qoy.2_Missense_Mutation_p.E518K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	951	Potential.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTTTTCCTCCAGGCCCTCC	0.522										HNSCC(10;0.0054)			T	152776602	C	T	152776602	3	4	195	1	0	0	0	0	1	0	0	0	15442	864	30	4	24107	4	SYNE1	6	152776602	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	919115	152776602	18338465	631	107735											
TIAM2	26230	broad.mit.edu	37	chr6	155577810	155577810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatacccacaccccggctTggcagattttgccgacaatc	8	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:155577810T>C	uc003qqb.2	+	29	5934	c.4661T>C	c.(4660-4662)TTG>TCG	p.L1554S	TIAM2_uc003qqe.2_Missense_Mutation_p.L1554S|TIAM2_uc010kjj.2_Missense_Mutation_p.L1116S|TIAM2_uc003qqf.2_Missense_Mutation_p.L930S|TIAM2_uc011efl.1_Missense_Mutation_p.L898S|TIAM2_uc003qqg.2_Missense_Mutation_p.L866S|TIAM2_uc003qqh.2_Missense_Mutation_p.L479S|uc003qqi.1_RNA	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1554					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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CACCCCGGCTTGGCAGATTTT	0.587													C	155577810	T	C	155577810	3	2	195	1	0	0	0	0	1	0	0	0	15888	1821	63	3	4755	3	TIAM2	6	155577810	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2801208	155577810	15537257	632	107736											
TFB1M	51106	broad.mit.edu	37	chr6	155581523	155581523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggagtgaagtgcaccacGcccacgtccaccttcgttgt	11	13	0	1	rs149796947	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:155581523G>A	uc003qqj.3	-	6	742	c.678C>T	c.(676-678)GGC>GGT	p.G226G	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AGTGCACCACGCCCACGTCCA	0.438													A	155581523	G	A	155581523	2	1	195	1	0	0	0	0	0	0	0	1	15790	1074	38	1		1	TFB1M	6	155581523	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3713	155581523	15533544	633	107737											
ARID1B	57492	broad.mit.edu	37	chr6	157522620	157522620	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagattacctccaaagataTcggtaagaattccaaagctt	6	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:157522620T>A	uc003qqn.2	+	18	4990	c.4838T>A	c.(4837-4839)ATC>AAC	p.I1613N	ARID1B_uc003qqo.2_Missense_Mutation_p.I1573N|ARID1B_uc003qqp.2_Missense_Mutation_p.I1560N	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1618					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAAAGATATCGGTAAGAAT	0.408													A	157522620	T	A	157522620	3	1	195	1	0	0	0	0	1	0	0	0	914	1435	50	5	4962	5	ARID1B	6	157522620	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1941097	157522620	13592447	634	107738											
SYNJ2	8871	broad.mit.edu	37	chr6	158499313	158499313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctacaagcgtctgatcacaGgtgaggtcctgacttccatg	11	11	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:158499313G>T	uc003qqx.1	+	18	2642	c.2567G>T	c.(2566-2568)AGA>ATA	p.R856I	SYNJ2_uc003qqw.1_Missense_Mutation_p.R856I|SYNJ2_uc003qqy.1_Missense_Mutation_p.R569I|SYNJ2_uc003qqz.1_Missense_Mutation_p.R473I|SYNJ2_uc003qra.1_Missense_Mutation_p.R199I	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	856	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTGATCACAGGTGAGGTCCT	0.542													T	158499313	G	T	158499313	3	4	195	1	0	0	0	0	1	0	0	0	15450	1014	35	5	2637	5	SYNJ2	6	158499313	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	976693	158499313	12615754	635	107739											
SYNJ2	8871	broad.mit.edu	37	chr6	158509770	158509770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtattcaattttgcagaCggcaagacttctaccaggag	9	9	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:158509770C>T	uc003qqx.1	+	24	3497	c.3422C>T	c.(3421-3423)ACG>ATG	p.T1141M	SYNJ2_uc003qqw.1_Missense_Mutation_p.T1141M|SYNJ2_uc003qqy.1_Missense_Mutation_p.T854M|SYNJ2_uc003qqz.1_Missense_Mutation_p.T758M|SYNJ2_uc003qra.1_Missense_Mutation_p.T484M|SYNJ2_uc010kjp.1_Missense_Mutation_p.T24M	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1141	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATTTTGCAGACGGCAAGACTT	0.502													T	158509770	C	T	158509770	3	4	195	1	0	0	0	0	1	0	0	0	15450	536	19	1	3516	1	SYNJ2	6	158509770	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	10457	158509770	12605297	636	107740											
TULP4	56995	broad.mit.edu	37	chr6	158834150	158834150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactggccacgtgcgatgcGgacggaggcatattcgtgtg	15	9	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:158834150G>A	uc003qrf.2	+	2	1663	c.306G>A	c.(304-306)GCG>GCA	p.A102A	TULP4_uc011efo.1_Silent_p.A102A|TULP4_uc003qrg.2_Silent_p.A102A	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	102	WD 1.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		CGTGCGATGCGGACGGAGGCA	0.567													A	158834150	G	A	158834150	2	1	195	1	0	0	0	0	0	0	0	1	16773	1103	39	1		1	TULP4	6	158834150	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	324380	158834150	12280917	637	107741											
FNDC1	84624	broad.mit.edu	37	chr6	159654471	159654471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtccacagaccgccacgCgtcccctgctcgtccgcccg	11	20	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:159654471C>T	uc010kjv.2	+	11	3127	c.2927C>T	c.(2926-2928)GCG>GTG	p.A976V	FNDC1_uc010kjw.1_Missense_Mutation_p.A861V	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	976						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		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)		GACCGCCACGCGTCCCCTGCT	0.662													T	159654471	C	T	159654471	3	4	195	1	0	0	0	0	1	0	0	0	5968	768	27	1	2969	1	FNDC1	6	159654471	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	820321	159654471	11460596	638	107742											
PLG	5340	broad.mit.edu	37	chr6	161135861	161135861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggagaaaactatgacGgcaaaatttccaagaccatg	10	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:161135861G>T	uc003qtm.3	+	6	646	c.583G>T	c.(583-585)GGC>TGC	p.G195C		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	195	Kringle 2.				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			skin(3)|ovary(1)	4				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)	AAACTATGACGGCAAAATTTC	0.473													T	161135861	G	T	161135861	3	4	195	1	0	0	0	0	1	0	0	0	12086	1116	39	5	609	5	PLG	6	161135861	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1481390	161135861	9979206	639	107743											
PLG	5340	broad.mit.edu	37	chr6	161139823	161139823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagtactgtaagatacCgtcctgtgactcctccccag	11	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:161139823C>T	uc003qtm.3	+	9	1112	c.1049C>T	c.(1048-1050)CCG>CTG	p.P350L		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	350	Kringle 3.				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			skin(3)|ovary(1)	4				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)	TGTAAGATACCGTCCTGTGAC	0.502													T	161139823	C	T	161139823	3	4	195	1	0	0	0	0	1	0	0	0	12086	652	23	1	1087	1	PLG	6	161139823	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3962	161139823	9975244	640	107744											
CCR6	1235	broad.mit.edu	37	chr6	167549868	167549868	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctccaggctatttgtaccGattgcctactccttgatctg	7	12	2	1	rs145186145		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr6:167549868G>A	uc003qvl.2	+	13	2626	c.150G>A	c.(148-150)CCG>CCA	p.P50P	CCR6_uc010kkm.2_Silent_p.P50P|CCR6_uc003qvn.3_Silent_p.P50P|CCR6_uc003qvm.3_Silent_p.P50P	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	50	Helical; Name=1; (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		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)		TATTTGTACCGATTGCCTACT	0.438													A	167549868	G	A	167549868	2	1	195	1	0	0	0	0	0	0	0	1	2945	1045	37	1		1	CCR6	6	167549868	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6410045	167549868	3565199	641	107745											
GPER	2852	broad.mit.edu	37	chr7	1132152	1132152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctccgcatgatcctcgCggtggtgctggtcttcttcg	14	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:1132152C>T	uc010ksd.1	+	2	1177	c.788C>T	c.(787-789)GCG>GTG	p.A263V	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A263V|GPER_uc003ska.1_Missense_Mutation_p.A263V|GPER_uc003skb.2_Missense_Mutation_p.A263V	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	263	Helical; Name=6; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ATGATCCTCGCGGTGGTGCTG	0.687													T	1132152	C	T	1132152	3	4	195	1	0	0	0	0	1	0	0	0	6607	768	27	1	790	1	GPER	7	1132152	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08		1132152	158006511	642	107746											
MICALL2	79778	broad.mit.edu	37	chr7	1484922	1484922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaatccacacccatggCccctggctgtcgggggacca	12	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:1484922C>T	uc003skj.3	-	6	931	c.784G>A	c.(784-786)GCC>ACC	p.A262T	MICALL2_uc003ski.3_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	262						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACACCCATGGCCCCTGGCTGT	0.687													T	1484922	C	T	1484922	3	4	195	1	0	0	0	0	1	0	0	0	9574	739	26	2	1978	2	MICALL2	7	1484922	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	352770	1484922	157653741	643	107747											
TMEM184A	202915	broad.mit.edu	37	chr7	1588314	1588314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtcacatagaggtagcCgctgcggacactaggacaga	15	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:1588314C>T	uc003skv.3	-	7	972	c.655G>A	c.(655-657)GGC>AGC	p.G219S	TMEM184A_uc003skt.3_Missense_Mutation_p.G198S|TMEM184A_uc003skw.3_Missense_Mutation_p.G24S	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	219						integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TAGAGGTAGCCGCTGCGGACA	0.657													T	1588314	C	T	1588314	3	4	195	1	0	0	0	0	1	0	0	0	16101	652	23	1	598	1	TMEM184A	7	1588314	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	103392	1588314	157550349	644	107748											
EIF3B	8662	broad.mit.edu	37	chr7	2402723	2402723	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggtatatgacgatcagtgaCgagtgggatattccagagaa	13	5	1	3	rs145413649		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:2402723C>G	uc003slx.2	+	4	914	c.831C>G	c.(829-831)GAC>GAG	p.D277E	EIF3B_uc003sly.2_Missense_Mutation_p.D277E|EIF3B_uc003slz.1_Missense_Mutation_p.D238E|EIF3B_uc003sma.2_Missense_Mutation_p.D5E	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	277	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CGATCAGTGACGAGTGGGATA	0.473													G	2402723	C	G	2402723	3	3	195	1	0	0	0	0	1	0	0	0	5013	535	19	5	845	5	EIF3B	7	2402723	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	814409	2402723	156735940	645	107749											
TTYH3	80727	broad.mit.edu	37	chr7	2687619	2687619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctacctgggcctgctgcTgctggacgtcatcatctgcc	13	14	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:2687619T>C	uc003smp.2	+	5	840	c.653T>C	c.(652-654)CTG>CCG	p.L218P	TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.L47P	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	218	Helical; Name=3; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GGCCTGCTGCTGCTGGACGTC	0.706													C	2687619	T	C	2687619	3	2	195	1	0	0	0	0	1	0	0	0	16738	1580	55	3	671	3	TTYH3	7	2687619	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	284896	2687619	156451044	646	107750											
SLC29A4	222962	broad.mit.edu	37	chr7	5330864	5330864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgcacaccaggatcacCgcaggtgcgctgggccccgc	12	18	1	0	rs145785340		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:5330864C>T	uc003sod.2	+	4	572	c.411C>T	c.(409-411)ACC>ACT	p.T137T	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.T137T|SLC29A4_uc003soe.2_Silent_p.T137T	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	137	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCAGGATCACCGCAGGTGCGC	0.423													T	5330864	C	T	5330864	2	4	195	1	0	0	0	0	0	0	0	1	14537	639	23	1		1	SLC29A4	7	5330864	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2643245	5330864	153807799	647	107751											
KDELR2	11014	broad.mit.edu	37	chr7	6505847	6505847	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacgatagaggcccaggaaGaacaggtagtgggtggtgat	17	6	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:6505847G>A	uc003sqe.3	-	4	620	c.459C>T	c.(457-459)TTC>TTT	p.F153F	DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron	NM_006854	NP_006845	P33947	ERD22_HUMAN	KDEL receptor 2 isoform 1	153	Helical; (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGCCCAGGAAGAACAGGTAGT	0.542													A	6505847	G	A	6505847	2	1	195	1	0	0	0	0	0	0	0	1	8120	933	33	4		4	KDELR2	7	6505847	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1174983	6505847	152632816	648	107752											
TMEM106B	54664	broad.mit.edu	37	chr7	12263969	12263969	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgtaaaatcagcctatgtCagttatgatgttcagaagcg	11	6	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:12263969C>T	uc011jxk.1	+	5	799	c.399C>T	c.(397-399)GTC>GTT	p.V133V	TMEM106B_uc003ssh.2_Silent_p.V133V	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	133						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CAGCCTATGTCAGTTATGATG	0.338													T	12263969	C	T	12263969	2	4	195	1	0	0	0	0	0	0	0	1	16018	813	29	4		4	TMEM106B	7	12263969	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5758122	12263969	146874694	649	107753											
SNX13	23161	broad.mit.edu	37	chr7	17908067	17908067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaatataatcaggatcaCtgagttgatttattaatgga	8	3	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:17908067C>T	uc003stw.1	-	9	1013	c.800G>A	c.(799-801)AGT>AAT	p.S267N	SNX13_uc003stv.2_Missense_Mutation_p.S267N|SNX13_uc010kuc.2_Missense_Mutation_p.S64N|SNX13_uc003stx.1_Missense_Mutation_p.S187N			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	267	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATCAGGATCACTGAGTTGATT	0.264													T	17908067	C	T	17908067	3	4	195	1	0	0	0	0	1	0	0	0	14884	565	20	4	2145	4	SNX13	7	17908067	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5644098	17908067	141230596	650	107754											
TWIST1	7291	broad.mit.edu	37	chr7	19156576	19156576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgaacgcctcgttcagCgactgggtgcgctggcgctc	16	14	1	0	rs144664279	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:19156576C>T	uc003sum.2	-	1	720	c.369G>A	c.(367-369)TCG>TCA	p.S123S		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	123	Helix-loop-helix motif.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						CCTCGTTCAGCGACTGGGTGC	0.572									Saethre-Chotzen_syndrome				T	19156576	C	T	19156576	2	4	195	1	0	0	0	0	0	0	0	1	16780	755	27	1		1	TWIST1	7	19156576	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1248509	19156576	139982087	651	107755											
ABCB5	340273	broad.mit.edu	37	chr7	20785017	20785017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgagatcaaagaagccGcaaatgcagcaaatatccat	8	8	1	3	rs146066744	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:20785017G>A	uc003suw.3	+	17	2596	c.2050G>A	c.(2050-2052)GCA>ACA	p.A684T	ABCB5_uc010kuh.2_Missense_Mutation_p.A1129T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	684	Cytoplasmic (Potential).|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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CAAAGAAGCCGCAAATGCAGC	0.433													A	20785017	G	A	20785017	3	1	195	1	0	0	0	0	1	0	0	0	44	1087	38	1	3524	1	ABCB5	7	20785017	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1628441	20785017	138353646	652	107756											
CDCA7L	55536	broad.mit.edu	37	chr7	21946056	21946056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccctccgagaaggcccGcctcactgtcttcttcctct	7	18	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:21946056G>A	uc010kuk.2	-	6	892	c.772C>T	c.(772-774)CGG>TGG	p.R258W	CDCA7L_uc003sve.3_Missense_Mutation_p.R224W|CDCA7L_uc010kul.2_Missense_Mutation_p.R212W|CDCA7L_uc003svf.3_Missense_Mutation_p.R257W	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	258					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						GAGAAGGCCCGCCTCACTGTC	0.542													A	21946056	G	A	21946056	3	1	195	1	0	0	0	0	1	0	0	0	3091	1086	38	1	612	1	CDCA7L	7	21946056	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1161039	21946056	137192607	653	107757											
RAPGEF5	9771	broad.mit.edu	37	chr7	22197498	22197498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggtgaatattcatctAcagtgctgaaaggaaaaatg	10	4	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:22197498A>G	uc003svg.2	-	15	1386	c.1073T>C	c.(1072-1074)GTA>GCA	p.V358A	RAPGEF5_uc011jyl.1_Missense_Mutation_p.V39A	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	208					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			ovary(1)	1						ATATTCATCTACAGTGCTGAA	0.418													G	22197498	A	G	22197498	3	3	195	1	0	0	0	0	1	0	0	0	13047	391	14	3	1167	3	RAPGEF5	7	22197498	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	251442	22197498	136941165	654	107758											
FAM126A	84668	broad.mit.edu	37	chr7	23018028	23018028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caactgctcctctccactgcGatagaattcaaagagctggt	8	12	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:23018028G>A	uc003svm.3	-	4	448	c.193C>T	c.(193-195)CGC>TGC	p.R65C	FAM126A_uc003svn.3_5'UTR|FAM126A_uc011jyr.1_Missense_Mutation_p.R31C	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	65						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						TCTCCACTGCGATAGAATTCA	0.413													A	23018028	G	A	23018028	3	1	195	1	0	0	0	0	1	0	0	0	5429	1058	37	1	1404	1	FAM126A	7	23018028	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	820530	23018028	136120635	655	107759											
NOD1	10392	broad.mit.edu	37	chr7	30465314	30465314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctctggttttatcagGtttccatttaggctgttgaa	9	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:30465314G>A	uc003tav.2	-	14	3325	c.2802C>T	c.(2800-2802)AAC>AAT	p.N934N		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	934	LRR 9.				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			ovary(1)|skin(1)	2						GTTTTATCAGGTTTCCATTTA	0.453													A	30465314	G	A	30465314	2	1	195	1	0	0	0	0	0	0	0	1	10516	1252	44	4		4	NOD1	7	30465314	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	7447286	30465314	128673349	656	107760											
BBS9	27241	broad.mit.edu	37	chr7	33195315	33195315	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtctactctgtctcagGtaagaaatatttttaccaat	6	7	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:33195315G>A	uc003tdn.1	+	4	841	c.328_splice	c.e4+1	p.G110_splice	BBS9_uc003tdo.1_Splice_Site_p.G110_splice|BBS9_uc003tdp.1_Splice_Site_p.G110_splice|BBS9_uc003tdq.1_Splice_Site_p.G110_splice|BBS9_uc010kwn.1_Splice_Site|BBS9_uc011kan.1_Splice_Site_p.G110_splice|BBS9_uc011kao.1_5'Flank	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TCTGTCTCAGGTAAGAAATAT	0.318									Bardet-Biedl_syndrome				A	33195315	G	A	33195315	5	1	195	1	0	0	0	0	0	0	1	0	1342	1275	44	4	339	4	BBS9	7	33195315	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2730001	33195315	125943348	657	107761											
C7orf10	79783	broad.mit.edu	37	chr7	40899966	40899966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagaggccaggccgccccCgctgctcgggcagcacacaa	13	17	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:40899966C>T	uc003thn.1	+	14	1250	c.1205C>T	c.(1204-1206)CCG>CTG	p.P402L	C7orf10_uc003thm.1_Missense_Mutation_p.P398L|C7orf10_uc003tho.1_Missense_Mutation_p.P354L|C7orf10_uc003thp.1_RNA	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	409							transferase activity			ovary(2)	2						AGGCCGCCCCCGCTGCTCGGG	0.577													T	40899966	C	T	40899966	3	4	195	1	0	0	0	0	1	0	0	0	2376	652	23	1	1251	1	C7orf10	7	40899966	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	7704651	40899966	118238697	658	107762											
GLI3	2737	broad.mit.edu	37	chr7	42004994	42004994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggagcatcaagtgctctGggccaccgtaggggttgctg	16	9	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:42004994G>T	uc011kbh.1	-	15	3768	c.3677C>A	c.(3676-3678)CCA>CAA	p.P1226Q	GLI3_uc011kbg.1_Missense_Mutation_p.P1167Q	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1226					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CAAGTGCTCTGGGCCACCGTA	0.617									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42004994	G	T	42004994	3	4	195	1	0	0	0	0	1	0	0	0	6439	1348	47	5	1069	5	GLI3	7	42004994	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1105028	42004994	117133669	659	107763											
STK17A	9263	broad.mit.edu	37	chr7	43635706	43635706	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaatgatcttagttcTggaatagtaagtattgtctt	8	4	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:43635706T>G	uc003tih.2	+	2	564	c.413T>G	c.(412-414)CTG>CGG	p.L138R		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	138	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2						ATCTTAGTTCTGGAATAGTAA	0.363													G	43635706	T	G	43635706	3	3	195	1	0	0	0	0	1	0	0	0	15289	1580	55	5	419	5	STK17A	7	43635706	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1630712	43635706	115502957	660	107764											
POLM	27434	broad.mit.edu	37	chr7	44113278	44113278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcccttctccttccgGctgaagcggcgcagctcccg	11	18	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:44113278G>A	uc003tjt.2	-	10	1436	c.1344C>T	c.(1342-1344)AGC>AGT	p.S448S	POLM_uc003tjw.1_Silent_p.S67S|POLM_uc003tju.2_Silent_p.S411S|POLM_uc003tjx.2_Silent_p.S368S|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Silent_p.S98S	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	448					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						TCTCCTTCCGGCTGAAGCGGC	0.652								DNA_polymerases_(catalytic_subunits)					A	44113278	G	A	44113278	2	1	195	1	0	0	0	0	0	0	0	1	12206	1194	42	2		2	POLM	7	44113278	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	477572	44113278	115025385	661	107765											
AEBP1	165	broad.mit.edu	37	chr7	44151594	44151594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctggtgcaggacacacGcatccacctggtgccctcac	10	17	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:44151594G>A	uc003tkb.2	+	16	2287	c.1982G>A	c.(1981-1983)CGC>CAC	p.R661H	AEBP1_uc003tkc.3_Missense_Mutation_p.R236H|AEBP1_uc003tkd.2_5'UTR	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	661	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				0						CAGGACACACGCATCCACCTG	0.647													A	44151594	G	A	44151594	3	1	195	1	0	0	0	0	1	0	0	0	349	1087	38	1	2044	1	AEBP1	7	44151594	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	38316	44151594	114987069	662	107766											
CCM2	83605	broad.mit.edu	37	chr7	45103550	45103550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacgtccataccaggatacCtgaatccctccagtaggact	7	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:45103550C>A	uc003tmo.2	+	3	384	c.238C>A	c.(238-240)CTG>ATG	p.L80M	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.L22M|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.L80M|CCM2_uc011kcb.1_Missense_Mutation_p.L43M|CCM2_uc011kcc.1_Intron|CCM2_uc003tms.2_Missense_Mutation_p.L101M	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	80	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						ACCAGGATACCTGAATCCCTC	0.468									Familial_Cerebral_Cavernous_Angioma				A	45103550	C	A	45103550	3	1	195	1	0	0	0	0	1	0	0	0	2908	680	24	5	345	5	CCM2	7	45103550	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	951956	45103550	114035113	663	107767											
TBRG4	9238	broad.mit.edu	37	chr7	45142994	45142994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgcaaaagccagaagtaCgctgcacaggtggggcaggg	16	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:45142994C>T	uc003tmv.2	-	6	1240	c.1114G>A	c.(1114-1116)GTA>ATA	p.V372I	TBRG4_uc003tmu.2_Missense_Mutation_p.V197I|TBRG4_uc003tmw.2_Missense_Mutation_p.V262I|TBRG4_uc003tmx.2_Missense_Mutation_p.V262I|TBRG4_uc011kcd.1_Missense_Mutation_p.V383I	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	372					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						GCCAGAAGTACGCTGCACAGG	0.572													T	45142994	C	T	45142994	3	4	195	1	0	0	0	0	1	0	0	0	15646	536	19	1	805	1	TBRG4	7	45142994	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	39444	45142994	113995669	664	107768											
ADCY1	107	broad.mit.edu	37	chr7	45748012	45748012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccattgagatgtttgacGttctggatgaaatcaactac	9	7	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:45748012G>A	uc003tne.3	+	18	2899	c.2881G>A	c.(2881-2883)GTT>ATT	p.V961I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	961	Cytoplasmic (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GATGTTTGACGTTCTGGATGA	0.488													A	45748012	G	A	45748012	3	1	195	1	0	0	0	0	1	0	0	0	292	1145	40	1	2951	1	ADCY1	7	45748012	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	605018	45748012	113390651	665	107769											
SUN3	256979	broad.mit.edu	37	chr7	48068665	48068665	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataatgtcttcttcctccaCgggtgtttcttcttgaagac	7	10	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:48068665C>T	uc003tof.2	-	1	52	c.-45G>A	c.(-47--43)CCGTG>CCATG		SUN3_uc003tog.2_Translation_Start_Site|SUN3_uc011kcf.1_Translation_Start_Site	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1						TCTTCCTCCACGGGTGTTTCT	0.398													T	48068665	C	T	48068665	1	4	195	1	0	0	0	0	0	0	0	0	15390	551	19	1		1	SUN3	7	48068665	Translation_Start_Site	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2320653	48068665	111069998	666	107770											
VSTM2A	222008	broad.mit.edu	37	chr7	54610361	54610361	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgccatccactcgcaCgcctttctttcagggctttt	8	15	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:54610361C>T	uc010kzf.2	+	1	343	c.-62C>T	c.(-64--60)CACGC>CATGC		VSTM2A_uc010kze.2_Translation_Start_Site|VSTM2A_uc003tqc.3_Translation_Start_Site	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2							extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)			TCCACTCGCACGCCTTTCTTT	0.547													T	54610361	C	T	54610361	1	4	195	1	0	0	0	0	0	0	0	0	17226	551	19	1		1	VSTM2A	7	54610361	Translation_Start_Site	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6541696	54610361	104528302	667	107771											
EGFR	1956	broad.mit.edu	37	chr7	55240694	55240694	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcctaagatcccgtccatCgccactgggatggtgggggc	15	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:55240694C>T	uc003tqk.2	+	17	2184	c.1938C>T	c.(1936-1938)ATC>ATT	p.I646I	EGFR_uc010kzg.1_Silent_p.I601I|EGFR_uc011kco.1_Silent_p.I593I	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	646	Helical; (Potential).				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			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	TCCCGTCCATCGCCACTGGGA	0.617		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55240694	C	T	55240694	2	4	195	1	0	0	0	0	0	0	0	1	4967	874	31	1		1	EGFR	7	55240694	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	630333	55240694	103897969	668	107772											
CCT6A	908	broad.mit.edu	37	chr7	56126071	56126071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atagagaagtgaattctggcTttttttacaagagtgcagaa	10	4	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:56126071T>G	uc003trl.1	+	7	906	c.742T>G	c.(742-744)TTT>GTT	p.F248V	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.F203V|CCT6A_uc011kcu.1_Missense_Mutation_p.F217V|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	248					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATTCTGGCTTTTTTTACAA	0.313													G	56126071	T	G	56126071	3	3	195	1	0	0	0	0	1	0	0	0	2957	1609	56	5	768	5	CCT6A	7	56126071	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	885377	56126071	103012592	669	107773											
ZNF680	340252	broad.mit.edu	37	chr7	64004763	64004765	+	In_Frame_Del	DEL	CTC	CTC	-													gcagtgtccaggcattgccaCtcctccagagagaattctat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:64004762_64004764ACTC>A	uc003tta.2	-	1	250_252	c.77_79GAGT>T	c.(76-81)gagtgg>gTgg	p.26_27EW>V	ZNF680_uc003ttb.2_In_Frame_Del_p.26_27EW>V	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E25D(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AGGCATTGCCACTCCTCCAGAGA	0.429													-	64004765	CTC	-	64004763	7	5	195	1	0	1	0	1	0	0	0	0	18084	564	20	0	1649	0	ZNF680	7	64004763	In_Frame_Del	DEL	CTC	TCGA-CG-5728-01A-11D-1600-08	7878692	64004763	95133900	670	107774											
AUTS2	26053	broad.mit.edu	37	chr7	70252292	70252292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccgaacgcctccgtcGttcccgacccctccgccctg	8	22	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:70252292G>A	uc003tvw.3	+	18	3149	c.2406G>A	c.(2404-2406)TCG>TCA	p.S802S	AUTS2_uc003tvx.3_Silent_p.S778S|AUTS2_uc011keg.1_Silent_p.S254S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	802										ovary(2)|central_nervous_system(1)	3		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)		CGCCTCCGTCGTTCCCGACCC	0.602													A	70252292	G	A	70252292	2	1	195	1	0	0	0	0	0	0	0	1	1225	1132	40	1		1	AUTS2	7	70252292	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6247529	70252292	88886371	671	107775											
WBSCR17	64409	broad.mit.edu	37	chr7	71142200	71142200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctattcttgcagcttcGcaacaacaaggcaaaagacg	8	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:71142200G>A	uc003tvy.2	+	9	1409	c.1409G>A	c.(1408-1410)CGC>CAC	p.R470H	WBSCR17_uc003tvz.2_Missense_Mutation_p.R169H	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	470	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGCAGCTTCGCAACAACAAG	0.532													A	71142200	G	A	71142200	3	1	195	1	0	0	0	0	1	0	0	0	17261	1087	38	1	1443	1	WBSCR17	7	71142200	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	889908	71142200	87996463	672	107776											
TRIM50	135892	broad.mit.edu	37	chr7	72738518	72738518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggttccggtggtgcaCgcagaccttgggctccgggt	18	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:72738518C>T	uc010lbd.1	-	2	393	c.268G>A	c.(268-270)GTG>ATG	p.V90M	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.V90M|TRIM50_uc003txz.1_Missense_Mutation_p.V90M	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	90	B box-type.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			skin(1)	1						CGGTGGTGCACGCAGACCTTG	0.682											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72738518	C	T	72738518	3	4	195	1	0	0	0	0	1	0	0	0	16523	536	19	1	1219	1	TRIM50	7	72738518	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1596318	72738518	86400145	673	107777											
CLDN4	1364	broad.mit.edu	37	chr7	73245910	73245910	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggcgtggtgttcctgTtggccggccttatggtgata	17	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:73245910T>A	uc003tzi.3	+	1	718	c.379T>A	c.(379-381)TTG>ATG	p.L127M	RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	NM_001305	NP_001296	O14493	CLD4_HUMAN	claudin 4	127	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity				0		Lung NSC(55;0.159)				GGTGTTCCTGTTGGCCGGCCT	0.617													A	73245910	T	A	73245910	3	1	195	1	0	0	0	0	1	0	0	0	3487	1722	60	5	381	5	CLDN4	7	73245910	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	507392	73245910	85892753	674	107778											
EIF4H	7458	broad.mit.edu	37	chr7	73604058	73604058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaggaagccttgacataCgatggtgcagtaagtatcct	10	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:73604058C>T	uc003uad.1	+	3	311	c.303C>T	c.(301-303)TAC>TAT	p.Y101Y	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Silent_p.Y101Y|EIF4H_uc010lbm.2_Silent_p.Y101Y|EIF4H_uc003uae.1_Silent_p.Y101Y|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	101	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						CCTTGACATACGATGGTGCAG	0.403													T	73604058	C	T	73604058	2	4	195	1	0	0	0	0	0	0	0	1	5039	547	19	1		1	EIF4H	7	73604058	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	358148	73604058	85534605	675	107779											
LAT2	7462	broad.mit.edu	37	chr7	73638506	73638506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccatccatcagtggCgcgagtccaggaaggtcatg	12	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:73638506C>T	uc003uag.2	+	12	1157	c.607C>T	c.(607-609)CGC>TGC	p.R203C	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.R203C|LAT2_uc003uai.2_Missense_Mutation_p.R203C|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	203	Cytoplasmic (Potential).				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				0						CCATCAGTGGCGCGAGTCCAG	0.587													T	73638506	C	T	73638506	3	4	195	1	0	0	0	0	1	0	0	0	8645	768	27	1	645	1	LAT2	7	73638506	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	34448	73638506	85500157	676	107780											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						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)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	195	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	12904017	86542523	72596140	677	107781											
C7orf23	79161	broad.mit.edu	37	chr7	86827314	86827314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcaaagaatatattcaaCggttttggaggtagttgagg	12	4	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:86827314C>T	uc003uio.2	-	3	389	c.177G>A	c.(175-177)CCG>CCA	p.P59P		NM_024315	NP_077291	Q9BU79	CG023_HUMAN	chromosome 7 open reading frame 23	59						integral to membrane					0	Esophageal squamous(14;0.0058)|all_lung(186;0.191)|Lung NSC(181;0.192)					ATATATTCAACGGTTTTGGAG	0.363										HNSCC(41;0.11)			T	86827314	C	T	86827314	2	4	195	1	0	0	0	0	0	0	0	1	2379	523	19	1		1	C7orf23	7	86827314	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	284791	86827314	72311349	678	107782											
STEAP4	79689	broad.mit.edu	37	chr7	87912268	87912268	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttcataaacataagggtaGattacgtctcttataacaca	5	7	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:87912268G>C	uc003ujs.2	-	3	777	c.672C>G	c.(670-672)ATC>ATG	p.I224M	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I224M	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	224					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				0	Esophageal squamous(14;0.00802)					CATAAGGGTAGATTACGTCTC	0.383													C	87912268	G	C	87912268	3	2	195	1	0	0	0	0	1	0	0	0	15279	932	33	5	719	5	STEAP4	7	87912268	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1084954	87912268	71226395	679	107783											
ZNF804B	219578	broad.mit.edu	37	chr7	88963633	88963633	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accactaccttttctccacgTtcaaagcaaggatggccaca	6	14	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:88963633T>G	uc011khi.1	+	4	1875	c.1337T>G	c.(1336-1338)GTT>GGT	p.V446G		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	446						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTCCACGTTCAAAGCAAG	0.403										HNSCC(36;0.09)			G	88963633	T	G	88963633	3	3	195	1	0	0	0	0	1	0	0	0	18168	1725	60	5	1351	5	ZNF804B	7	88963633	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1051365	88963633	70175030	680	107784											
KRIT1	889	broad.mit.edu	37	chr7	91852279	91852279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccatccattctgtatattCgaactttttcatactacaag	3	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:91852279C>T	uc003ulq.1	-	11	1439	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	KRIT1_uc010lev.1_Missense_Mutation_p.R180Q|KRIT1_uc003ulr.1_Missense_Mutation_p.R423Q|KRIT1_uc003uls.1_Missense_Mutation_p.R423Q|KRIT1_uc003ult.1_Missense_Mutation_p.R375Q|KRIT1_uc003ulu.1_Missense_Mutation_p.R423Q|KRIT1_uc003ulv.1_Missense_Mutation_p.R423Q	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	423	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			ovary(2)|lung(1)	3	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)			TCTGTATATTCGAACTTTTTC	0.343									Familial_Cerebral_Cavernous_Angioma				T	91852279	C	T	91852279	3	4	195	1	0	0	0	0	1	0	0	0	8445	884	31	1	970	1	KRIT1	7	91852279	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2888646	91852279	67286384	681	107785											
ANKIB1	54467	broad.mit.edu	37	chr7	92027163	92027163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgctctgaaaaccaggActctcttcaggtagcctttc	8	13	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:92027163A>G	uc003ulw.2	+	19	2898	c.2522A>G	c.(2521-2523)GAC>GGC	p.D841G	ANKIB1_uc010lew.1_Missense_Mutation_p.D110G	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	841							protein binding|zinc ion binding			lung(1)	1	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)			GAAAACCAGGACTCTCTTCAG	0.507													G	92027163	A	G	92027163	3	3	195	1	0	0	0	0	1	0	0	0	630	275	10	3	2592	3	ANKIB1	7	92027163	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	174884	92027163	67111500	682	107786											
PEX1	5189	broad.mit.edu	37	chr7	92147069	92147069	+	Frame_Shift_Del	DEL	A	A	-													tttcttctcagattgaaaggAaaaaatgcttcctatcatag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:92147068_92147068GA>G	uc003uly.3	-	4	857	c.761_761TC>C	c.(760-762)tccfs	p.S254fs	PEX1_uc011khr.2_Frame_Shift_Del_p.S46fs|PEX1_uc010ley.3_Frame_Shift_Del_p.S254fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	254					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)			AGATTGAAAGGAAAAAATGCT	0.353													-	92147069	A	-	92147069	7	5	195	1	0	1	0	1	0	0	0	0	11735	246	9	0	3171	0	PEX1	7	92147069	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	119906	92147069	66991594	683	107787											
SAMD9L	219285	broad.mit.edu	37	chr7	92761061	92761062	+	Frame_Shift_Ins	INS	-	-	T													gcaagacctctcggagttgtINSttttttagcgtggtaagtgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:92761060_92761061G>GT	uc003umh.1	-	4	5440_5441	c.4224_4225C>AC	c.(4222-4227)aaacaafs	p.K1408fs	SAMD9L_uc003umj.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umi.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfb.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umk.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfc.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfd.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc022ahh.1_Frame_Shift_Ins_p.K1408fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1408										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)			TCTCGGAGTTGTTTTTTTAGCG	0.406													T	92761062	-	T	92761061	7	5	195	1	0	1	1	0	0	0	0	0	13827	1722	60	0	534	0	SAMD9L	7	92761061	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	613992	92761061	66377602	684	107788											
ZNF394	84124	broad.mit.edu	37	chr7	99091276	99091276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatttgtaaggcttttccCcagtgtgaattctctggtgt	10	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:99091276C>A	uc003uqs.2	-	3	1723	c.1562G>T	c.(1561-1563)GGG>GTG	p.G521V	ZNF394_uc003uqt.2_Missense_Mutation_p.G314V	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	521					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)					AGGCTTTTCCCCAGTGTGAAT	0.428													A	99091276	C	A	99091276	3	1	195	1	0	0	0	0	1	0	0	0	17877	623	22	5	127	5	ZNF394	7	99091276	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6330215	99091276	60047387	685	107789											
ZNF3	7551	broad.mit.edu	37	chr7	99672966	99672966	+	Frame_Shift_Del	DEL	A	A	-													aaatcactgaggatggggtgAaaaatgcacatttgggaagg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:99672965_99672965GA>G	uc003uss.3	-	1	403	c.85_85TC>C	c.(85-87)cacfs	p.H29fs	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Intron|ZNF3_uc010lgj.3_Intron|ZNF3_uc003usr.3_Intron|ZNF3_uc003ust.4_Intron			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	0					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGGATGGGGTGAAAAATGCAC	0.502													-	99672966	A	-	99672966	7	5	195	1	0	1	0	1	0	0	0	0	17826	261	9	0		0	ZNF3	7	99672966	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	581690	99672966	59465697	686	107790											
MCM7	4176	broad.mit.edu	37	chr7	99690627	99690627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatattcatccagagcCgcctggaactgggcgggtgt	12	12	2	1	rs139468339		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:99690627C>T	uc003usw.1	-	15	2598	c.2088G>A	c.(2086-2088)GCG>GCA	p.A696A	MCM7_uc003usv.1_Silent_p.A520A|MCM7_uc003usx.1_Silent_p.A520A	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	696	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				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CATCCAGAGCCGCCTGGAACT	0.592													T	99690627	C	T	99690627	2	4	195	1	0	0	0	0	0	0	0	1	9392	639	23	1		1	MCM7	7	99690627	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	17661	99690627	59448036	687	107791											
PVRIG	79037	broad.mit.edu	37	chr7	99818219	99818219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctgcgggcagacctggcCgggatcttgggggtctcagg	17	10	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:99818219C>T	uc003uue.2	+	5	891	c.519C>T	c.(517-519)GCC>GCT	p.A173A	GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Silent_p.A173A	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin	173	Helical; (Potential).					integral to membrane				skin(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGACCTGGCCGGGATCTTGG	0.647													T	99818219	C	T	99818219	2	4	195	1	0	0	0	0	0	0	0	1	12838	639	23	1		1	PVRIG	7	99818219	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	127592	99818219	59320444	688	107792											
FBXO24	26261	broad.mit.edu	37	chr7	100192158	100192158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagcagcaccctctacGtcacaggtatggaccacctc	8	16	2	1	rs140728414		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:100192158G>A	uc003uvm.1	+	6	1239	c.946G>A	c.(946-948)GTC>ATC	p.V316I	FBXO24_uc003uvl.1_Missense_Mutation_p.V302I|FBXO24_uc003uvn.1_Missense_Mutation_p.V11I|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.V354I|FBXO24_uc011kka.1_Missense_Mutation_p.V304I	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	316						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CACCCTCTACGTCACAGGTAT	0.597													A	100192158	G	A	100192158	3	1	195	1	0	0	0	0	1	0	0	0	5735	1145	40	1	1125	1	FBXO24	7	100192158	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	373939	100192158	58946505	689	107793											
GIGYF1	64599	broad.mit.edu	37	chr7	100282113	100282113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggggcaaagggcacgCggccccacatcttgatcacc	12	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:100282113C>T	uc003uwg.1	-	13	2598	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	530										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AAAGGGCACGCGGCCCCACAT	0.667													T	100282113	C	T	100282113	3	4	195	1	0	0	0	0	1	0	0	0	6377	768	27	1	1566	1	GIGYF1	7	100282113	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	89955	100282113	58856550	690	107794											
GIGYF1	64599	broad.mit.edu	37	chr7	100283673	100283673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggaagtccagctcctgCtcctcaggaatgggctcctt	10	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:100283673C>T	uc003uwg.1	-	9	1987	c.978G>A	c.(976-978)GAG>GAA	p.E326E		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	326										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCAGCTCCTGCTCCTCAGGAA	0.677													T	100283673	C	T	100283673	2	4	195	1	0	0	0	0	0	0	0	1	6377	796	28	2		2	GIGYF1	7	100283673	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1560	100283673	58854990	691	107795											
EPHB4	2050	broad.mit.edu	37	chr7	100403278	100403278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgggacagtctgggggCgggggcagccggtagtcctg	22	8	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:100403278C>T	uc003uwn.1	-	15	3014	c.2523G>A	c.(2521-2523)CCG>CCA	p.P841P	EPHB4_uc003uwm.1_Silent_p.P748P|EPHB4_uc010lhj.1_Silent_p.P841P	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	841	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGTCTGGGGGCGGGGGCAGCC	0.617													T	100403278	C	T	100403278	2	4	195	1	0	0	0	0	0	0	0	1	5177	755	27	1		1	EPHB4	7	100403278	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	119605	100403278	58735385	692	107796											
SLC12A9	56996	broad.mit.edu	37	chr7	100454739	100454739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaatggctcctccctgcCgccccggtttggccacttca	8	20	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:100454739C>T	uc003uwp.2	+	5	840	c.698C>T	c.(697-699)CCG>CTG	p.P233L	SLC12A9_uc003uwo.1_Missense_Mutation_p.P144L|SLC12A9_uc003uwq.2_Missense_Mutation_p.P144L|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	233	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCTCCCTGCCGCCCCGGTTT	0.647													T	100454739	C	T	100454739	3	4	195	1	0	0	0	0	1	0	0	0	14390	652	23	1	712	1	SLC12A9	7	100454739	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	51461	100454739	58683924	693	107797											
TRIM56	81844	broad.mit.edu	37	chr7	100732369	100732369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctcccaggccagccaCgcggtggcggcactgcctag	13	17	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:100732369C>T	uc003uxq.2	+	3	2007	c.1776C>T	c.(1774-1776)CAC>CAT	p.H592H	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	592					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGCCAGCCACGCGGTGGCGG	0.677													T	100732369	C	T	100732369	2	4	195	1	0	0	0	0	0	0	0	1	16527	535	19	1		1	TRIM56	7	100732369	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	277630	100732369	58406294	694	107798											
CUX1	1523	broad.mit.edu	37	chr7	101845475	101845475	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatctgccagagaatcttCggggagaaggtaagggatct	15	7	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:101845475C>T	uc003uyx.3	+	18	2936	c.2898C>T	c.(2896-2898)TTC>TTT	p.F966F	CUX1_uc003uys.3_Silent_p.F977F|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	966	CUT 2.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						AGAGAATCTTCGGGGAGAAGG	0.557													T	101845475	C	T	101845475	2	4	195	1	0	0	0	0	0	0	0	1	4064	883	31	1		1	CUX1	7	101845475	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1113106	101845475	57293188	695	107799											
LRRC17	10234	broad.mit.edu	37	chr7	102574619	102574619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggatttgctgcacatgCtgctagcaagaaacaagatc	9	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:102574619C>T	uc003vau.2	+	2	648	c.259C>T	c.(259-261)CTG>TTG	p.L87L	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Silent_p.L87L	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	87	LRR 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						GCTGCACATGCTGCTAGCAAG	0.398													T	102574619	C	T	102574619	2	4	195	1	0	0	0	0	0	0	0	1	8973	796	28	2		2	LRRC17	7	102574619	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	729144	102574619	56564044	696	107800											
PRKAR2B	5577	broad.mit.edu	37	chr7	106791470	106791470	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccttaaatctttggaggTaagtatatgtttatgctttt	7	4	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:106791470T>C	uc003vdx.2	+	7	1018	c.843_splice	c.e7+2	p.E281_splice		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory						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			ovary(1)	1						TCTTTGGAGGTAAGTATATGT	0.269													C	106791470	T	C	106791470	5	2	195	1	0	0	0	0	0	0	1	0	12506	1652	57	3	871	3	PRKAR2B	7	106791470	Splice_Site	SNP	T	TCGA-CG-5728-01A-11D-1600-08	4216851	106791470	52347193	697	107801											
SLC26A3	1811	broad.mit.edu	37	chr7	107427311	107427311	+	Frame_Shift_Del	DEL	T	T	-													ccacagccactttaaacctgTttttaaagtcacagccgtag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:107427310_107427310GT>G	uc003ver.2	-	7	1144	c.933_933AC>C	c.(931-933)aacfs	p.N311fs	SLC26A3_uc003ves.2_Frame_Shift_Del_p.N276fs	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	311					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						CTTTAAACCTGTTTTTAAAGT	0.463													-	107427311	T	-	107427311	7	5	195	1	0	1	0	1	0	0	0	0	14518	1725	60	0	1418	0	SLC26A3	7	107427311	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	635841	107427311	51711352	698	107802											
NRCAM	4897	broad.mit.edu	37	chr7	107816976	107816977	+	Frame_Shift_Ins	INS	-	-	T													tcgagtgctgaaatttaaatINStttttaaagtccaccgtgtc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:107816975_107816976A>AT	uc022aka.1	-	23	3156_3157	c.3050_3051T>AT	c.(3049-3051)aatfs	p.N1017fs	NRCAM_uc011kmk.2_Frame_Shift_Ins_p.N1017fs|NRCAM_uc003vfd.3_Frame_Shift_Ins_p.N998fs|NRCAM_uc003vfe.3_Frame_Shift_Ins_p.N998fs|NRCAM_uc003vfc.3_Frame_Shift_Ins_p.N1001fs|NRCAM_uc011kmj.2_5'UTR	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1017	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						TGAAATTTAAATTTTTTAAAGT	0.361													T	107816977	-	T	107816976	7	5	195	1	0	1	1	0	0	0	0	0	10644	1493	52	0	922	0	NRCAM	7	107816976	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	389665	107816976	51321687	699	107803											
TMEM168	64418	broad.mit.edu	37	chr7	112407336	112407336	+	Frame_Shift_Del	DEL	A	A	-													tttaatcttttcaagcacctAaaacaagttttgcagatcca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:112407335_112407335TA>T	uc003vgn.3	-	4	2403	c.2011_2011TA>A	c.(2011-2013)aggfs	p.R671fs	TMEM168_uc010lju.3_Frame_Shift_Del_p.R671fs|TMEM168_uc011kmr.2_Frame_Shift_Del_p.R287fs	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	671						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						TTCAAGCACCTAAAACAAGTT	0.408													-	112407336	A	-	112407336	7	5	195	1	0	1	0	1	0	0	0	0	16080	359	13	0	87	0	TMEM168	7	112407336	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4590360	112407336	46731327	700	107804											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519436	113519436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgcccgggtggggattgCggtatgttcgctcagcagag	17	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:113519436C>T	uc010ljy.1	-	4	1742	c.1711G>A	c.(1711-1713)GCA>ACA	p.A571T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	571					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GTGGGGATTGCGGTATGTTCG	0.473													T	113519436	C	T	113519436	3	4	195	1	0	0	0	0	1	0	0	0	12371	768	27	1	1661	1	PPP1R3A	7	113519436	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1112100	113519436	45619227	701	107805											
CFTR	1080	broad.mit.edu	37	chr7	117171005	117171005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaatcatagcttcctAtgacccggataacaaggagg	12	8	1	2	rs121909031		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:117171005A>G	uc003vjd.2	+	4	458	c.326A>G	c.(325-327)TAT>TGT	p.Y109C	CFTR_uc011knq.1_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	109	ABC transmembrane type-1 1.|Extracellular (Potential).		Y -> C (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			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATAGCTTCCTATGACCCGGAT	0.418									Cystic_Fibrosis				G	117171005	A	G	117171005	3	3	195	1	0	0	0	0	1	0	0	0	3294	449	16	3	340	3	CFTR	7	117171005	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	3651569	117171005	41967658	702	107806											
KCND2	3751	broad.mit.edu	37	chr7	119915439	119915439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttcgcctggctgcagcGcctagtcgttaccgttttgt	11	12	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:119915439G>A	uc003vjj.1	+	1	1718	c.753G>A	c.(751-753)GCG>GCA	p.A251A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	251	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TGGCTGCAGCGCCTAGTCGTT	0.532													A	119915439	G	A	119915439	2	1	195	1	0	0	0	0	0	0	0	1	8019	1074	38	1		1	KCND2	7	119915439	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2744434	119915439	39223224	703	107807											
C7orf58	79974	broad.mit.edu	37	chr7	120781026	120781026	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attggagtggaaactcctaaGtgtctgtgcaaggtgcacct	12	8	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:120781026G>C	uc003vjq.3	+	15	2292	c.1845G>C	c.(1843-1845)AAG>AAC	p.K615N	C7orf58_uc003vjs.3_Missense_Mutation_p.K615N|C7orf58_uc003vjt.3_Missense_Mutation_p.K395N	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	615						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AAACTCCTAAGTGTCTGTGCA	0.438													C	120781026	G	C	120781026	3	2	195	1	0	0	0	0	1	0	0	0	2405	1020	36	5	1899	5	C7orf58	7	120781026	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	865587	120781026	38357637	704	107808											
HYAL4	23553	broad.mit.edu	37	chr7	123508820	123508820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcaaaagatgtttacagaCagaagtcaagaaagcttatt	7	6	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:123508820C>A	uc003vlc.2	+	3	1131	c.493C>A	c.(493-495)CAG>AAG	p.Q165K	HYAL4_uc011knz.1_Missense_Mutation_p.Q165K	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	165	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TGTTTACAGACAGAAGTCAAG	0.403													A	123508820	C	A	123508820	3	1	195	1	0	0	0	0	1	0	0	0	7466	479	17	5	495	5	HYAL4	7	123508820	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2727794	123508820	35629843	705	107809											
GCC1	79571	broad.mit.edu	37	chr7	127223030	127223030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcacagagcttctccaCatccagggtcacctggcttt	9	14	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:127223030C>T	uc003vma.2	-	2	1784	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	456	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						AGCTTCTCCACATCCAGGGTC	0.532													T	127223030	C	T	127223030	3	4	195	1	0	0	0	0	1	0	0	0	6285	478	17	4	965	4	GCC1	7	127223030	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3714210	127223030	31915633	706	107810											
FSCN3	29999	broad.mit.edu	37	chr7	127235709	127235709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgaccccactatgggcCgcatctgggtggacgcagca	15	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:127235709C>T	uc003vmd.1	+	2	712	c.493C>T	c.(493-495)CGC>TGC	p.R165C	FSCN3_uc003vmc.1_Missense_Mutation_p.R120C|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R31C|FSCN3_uc010llc.1_Missense_Mutation_p.R165C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	165						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						CACTATGGGCCGCATCTGGGT	0.607													T	127235709	C	T	127235709	3	4	195	1	0	0	0	0	1	0	0	0	6069	652	23	1	499	1	FSCN3	7	127235709	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	12679	127235709	31902954	707	107811											
FLNC	2318	broad.mit.edu	37	chr7	128483862	128483862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacagggcaacatggcaGtgacagtgacttatggcggg	14	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:128483862G>A	uc003vnz.3	+	19	3033	c.2824G>A	c.(2824-2826)GTG>ATG	p.V942M	FLNC_uc003voa.3_Missense_Mutation_p.V942M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	942	Filamin 7.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CAACATGGCAGTGACAGTGAC	0.527													A	128483862	G	A	128483862	3	1	195	1	0	0	0	0	1	0	0	0	5935	1029	36	4	2898	4	FLNC	7	128483862	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1248153	128483862	30654801	708	107812											
FLNC	2318	broad.mit.edu	37	chr7	128494555	128494555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcgagggcgaggacagCgcctacagcgtgcgctttgt	15	11	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:128494555C>T	uc003vnz.3	+	41	7025	c.6816C>T	c.(6814-6816)AGC>AGT	p.S2272S	FLNC_uc003voa.3_Silent_p.S2239S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2272	Filamin 20.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCGAGGACAGCGCCTACAGCG	0.637													T	128494555	C	T	128494555	2	4	195	1	0	0	0	0	0	0	0	1	5935	767	27	1		1	FLNC	7	128494555	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	10693	128494555	30644108	709	107813											
FAM40B	57464	broad.mit.edu	37	chr7	129122851	129122851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatttaccagaaagtgCgtcaccgcatgaacgatgac	9	12	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:129122851C>T	uc011koy.1	+	20	2258	c.2218C>T	c.(2218-2220)CGT>TGT	p.R740C	FAM40B_uc003vow.2_Missense_Mutation_p.R740C|FAM40B_uc011koz.1_Missense_Mutation_p.R232C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	740											0						CCAGAAAGTGCGTCACCGCAT	0.448													T	129122851	C	T	129122851	3	4	195	1	0	0	0	0	1	0	0	0	5561	768	27	1	2296	1	FAM40B	7	129122851	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	628296	129122851	30015812	710	107814											
COPG2	26958	broad.mit.edu	37	chr7	130351756	130351756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggattgattggagtttcaTtgaatatacgagcctatgaa	10	4	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:130351756T>C	uc003vqh.1	-	3	194	c.104A>G	c.(103-105)AAT>AGT	p.N35S		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	35					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)					TGGAGTTTCATTGAATATACG	0.279													C	130351756	T	C	130351756	3	2	195	1	0	0	0	0	1	0	0	0	3732	1493	52	3	1146	3	COPG2	7	130351756	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1228905	130351756	28786907	711	107815											
PLXNA4	91584	broad.mit.edu	37	chr7	131895805	131895805	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attcgtagccacgctgcccaGactggggctgggggaggttc	16	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:131895805G>T	uc003vra.3	-	10	2424	c.2195C>A	c.(2194-2196)TCT>TAT	p.S732Y		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	732	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ACGCTGCCCAGACTGGGGCTG	0.627													T	131895805	G	T	131895805	3	4	195	1	0	0	0	0	1	0	0	0	12122	942	33	5	3581	5	PLXNA4	7	131895805	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1544049	131895805	27242858	712	107816											
CHCHD3	54927	broad.mit.edu	37	chr7	132659927	132659927	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacatttttaatactcAccaggtgctttgccttagcg	6	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:132659927A>G	uc003vre.2	-	4	505	c.369_splice	c.e4+1	p.L123_splice	CHCHD3_uc010lmi.2_Splice_Site|CHCHD3_uc003vrf.2_Missense_Mutation_p.V124A|CHCHD3_uc010lmj.2_5'UTR|CHCHD3_uc011kpn.1_Splice_Site_p.L123_splice	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain						inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold				0						TTTAATACTCACCAGGTGCTT	0.463													G	132659927	A	G	132659927	5	3	195	1	0	0	0	0	0	0	1	0	3317	173	6	3	332	3	CHCHD3	7	132659927	Splice_Site	SNP	A	TCGA-CG-5728-01A-11D-1600-08	764122	132659927	26478736	713	107817											
CNOT4	4850	broad.mit.edu	37	chr7	135079001	135079001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttctgaagagatgtgggCgaaagggaaggttggtcttg	18	3	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:135079001C>T	uc003vsv.1	-	10	1603	c.1296G>A	c.(1294-1296)TCG>TCA	p.S432S	CNOT4_uc003vss.2_Silent_p.S429S|CNOT4_uc011kpz.1_Silent_p.S429S|CNOT4_uc003vst.2_Silent_p.S432S|CNOT4_uc003vsu.1_Silent_p.S429S|CNOT4_uc011kpy.1_Silent_p.S432S	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	432					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				0						GAGATGTGGGCGAAAGGGAAG	0.498													T	135079001	C	T	135079001	2	4	195	1	0	0	0	0	0	0	0	1	3621	755	27	1		1	CNOT4	7	135079001	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2419074	135079001	24059662	714	107818											
DGKI	9162	broad.mit.edu	37	chr7	137270094	137270094	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggttcatcagtgtagcccTgaggaatcagagaacatatc	10	9	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:137270094T>C	uc003vtt.2	-	14	1427	c.1426_splice	c.e14-1	p.G476_splice	DGKI_uc003vtu.2_Splice_Site_p.G176_splice	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota						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			ovary(1)|kidney(1)|skin(1)	3						AGTGTAGCCCTGAGGAATCAG	0.448													C	137270094	T	C	137270094	5	2	195	1	0	0	0	0	0	0	1	0	4471	1594	55	3	1857	3	DGKI	7	137270094	Splice_Site	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2191093	137270094	21868569	715	107819											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138758625	138758625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatactgaatccatgTgccagattcattcttccaat	4	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:138758625T>C	uc003vun.2	-	7	2237	c.1849A>G	c.(1849-1851)ACA>GCA	p.T617A	ZC3HAV1_uc003vuo.2_Missense_Mutation_p.T78A|ZC3HAV1_uc003vup.2_Missense_Mutation_p.T617A	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	617	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TGAATCCATGTGCCAGATTCA	0.428													C	138758625	T	C	138758625	3	2	195	1	0	0	0	0	1	0	0	0	17572	1696	59	3	891	3	ZC3HAV1	7	138758625	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1488531	138758625	20380038	716	107820											
UBN2	254048	broad.mit.edu	37	chr7	138969097	138969097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaggccccctcaaagcTaacaaactcatcatccactg	4	16	5	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:138969097T>C	uc011kqr.1	+	15	3446	c.3446T>C	c.(3445-3447)CTA>CCA	p.L1149P		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1149	Ser-rich.									ovary(1)|skin(1)	2						CCCTCAAAGCTAACAAACTCA	0.473													C	138969097	T	C	138969097	3	2	195	1	0	0	0	0	1	0	0	0	16890	1522	53	3	3504	3	UBN2	7	138969097	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	210472	138969097	20169566	717	107821											
HIPK2	28996	broad.mit.edu	37	chr7	139268623	139268623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttttcaggggtggcaCgatgatggttcgggggttcc	18	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:139268623C>T	uc003vvf.3	-	13	3079	c.2905G>A	c.(2905-2907)GTG>ATG	p.V969M	HIPK2_uc003vvd.3_Missense_Mutation_p.V942M	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	969	Required for localization to nuclear speckles (By similarity).|Interaction with AXIN1 (By similarity).				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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					AGGGGTGGCACGATGATGGTT	0.592													T	139268623	C	T	139268623	3	4	195	1	0	0	0	0	1	0	0	0	7117	536	19	1	703	1	HIPK2	7	139268623	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	299526	139268623	19870040	718	107822											
HIPK2	28996	broad.mit.edu	37	chr7	139315949	139315949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatggtgagtccgtgtcacGgttgaaaaacctagttgtct	11	7	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:139315949G>A	uc003vvf.3	-	4	1483	c.1309C>T	c.(1309-1311)CGT>TGT	p.R437C	HIPK2_uc003vvd.3_Missense_Mutation_p.R437C	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	437	Protein kinase.|Interaction with DAXX.				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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					TCCGTGTCACGGTTGAAAAAC	0.478													A	139315949	G	A	139315949	3	1	195	1	0	0	0	0	1	0	0	0	7117	1116	39	1	2335	1	HIPK2	7	139315949	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	47326	139315949	19822714	719	107823											
DENND2A	27147	broad.mit.edu	37	chr7	140255465	140255465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgaagcatcccaggcGgctcacaatgcagtaaactt	11	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:140255465G>A	uc010lnj.2	-	10	2153	c.2008C>T	c.(2008-2010)CGC>TGC	p.R670C	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R670C|DENND2A_uc003vvw.2_Missense_Mutation_p.R670C|DENND2A_uc003vvx.2_Missense_Mutation_p.R670C	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	670	DENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CATCCCAGGCGGCTCACAATG	0.527													A	140255465	G	A	140255465	3	1	195	1	0	0	0	0	1	0	0	0	4429	1116	39	1	1057	1	DENND2A	7	140255465	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	939516	140255465	18883198	720	107824											
ADCK2	90956	broad.mit.edu	37	chr7	140379077	140379077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaagtcttggtggaaacGtatgaagtaagagtgatggc	15	3	1	4	rs141910091		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:140379077G>A	uc003vvy.1	+	3	1381	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	ADCK2_uc003vvz.2_Silent_p.T401T	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	401	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					TGGTGGAAACGTATGAAGTAA	0.537													A	140379077	G	A	140379077	2	1	195	1	0	0	0	0	0	0	0	1	289	1132	40	1		1	ADCK2	7	140379077	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	123612	140379077	18759586	721	107825											
AGK	55750	broad.mit.edu	37	chr7	141351372	141351372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtggagggcacggagtGtctccaagccagccagtgca	15	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:141351372G>A	uc003vwi.2	+	15	1265	c.1094G>A	c.(1093-1095)TGT>TAT	p.C365Y	AGK_uc011krg.1_RNA	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	365					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			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					GGCACGGAGTGTCTCCAAGCC	0.557													A	141351372	G	A	141351372	3	1	195	1	0	0	0	0	1	0	0	0	383	1377	48	4	1148	4	AGK	7	141351372	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	972295	141351372	17787291	722	107826											
KIAA1147	57189	broad.mit.edu	37	chr7	141386388	141386388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattggattttatgggacccActggccatagacttgaactc	10	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:141386388A>G	uc003vwk.2	-	2	339	c.339T>C	c.(337-339)AGT>AGC	p.S113S		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	hypothetical protein LOC57189	113										ovary(1)	1	Melanoma(164;0.0171)					TATGGGACCCACTGGCCATAG	0.443													G	141386388	A	G	141386388	2	3	195	1	0	0	0	0	0	0	0	1	8210	156	6	3		3	KIAA1147	7	141386388	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	35016	141386388	17752275	723	107827											
EPHB6	2051	broad.mit.edu	37	chr7	142568426	142568426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttcagtgatgtggctcAgctcagcctagagtaagcag	11	10	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:142568426A>G	uc011kst.1	+	19	3732	c.2945A>G	c.(2944-2946)CAG>CGG	p.Q982R	EPHB6_uc011ksu.1_Missense_Mutation_p.Q982R|EPHB6_uc003wbs.2_Missense_Mutation_p.Q690R|EPHB6_uc003wbt.2_Missense_Mutation_p.Q456R|EPHB6_uc003wbu.2_Missense_Mutation_p.Q690R|EPHB6_uc003wbv.2_Missense_Mutation_p.Q366R	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	982	SAM.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GATGTGGCTCAGCTCAGCCTA	0.592													G	142568426	A	G	142568426	3	3	195	1	0	0	0	0	1	0	0	0	5178	188	7	3	3003	3	EPHB6	7	142568426	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1182038	142568426	16570237	724	107828											
TAS2R60	338398	broad.mit.edu	37	chr7	143140741	143140741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggttagcctaggggcctctCgcttctgtctgcagtcagtg	13	11	4	0	rs148979644		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:143140741C>T	uc011ktg.1	+	1	196	c.196C>T	c.(196-198)CGC>TGC	p.R66C	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	66	Extracellular (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					AGGGGCCTCTCGCTTCTGTCT	0.498													T	143140741	C	T	143140741	3	4	195	1	0	0	0	0	1	0	0	0	15582	884	31	1	198	1	TAS2R60	7	143140741	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	572315	143140741	15997922	725	107829											
OR6B1	135946	broad.mit.edu	37	chr7	143701922	143701922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttccatcttctatgccaTtgtcactccttctctcaacc	2	15	5	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:143701922T>C	uc003wdt.1	+	1	833	c.833T>C	c.(832-834)ATT>ACT	p.I278T		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					TTCTATGCCATTGTCACTCCT	0.423													C	143701922	T	C	143701922	3	2	195	1	0	0	0	0	1	0	0	0	11187	1493	52	3	835	3	OR6B1	7	143701922	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	561181	143701922	15436741	726	107830											
OR2A14	135941	broad.mit.edu	37	chr7	143826976	143826976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcagcgccattgtcacGtacatggcccccaagtcccg	10	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:143826976G>A	uc011kua.1	+	1	771	c.771G>A	c.(769-771)ACG>ACA	p.T257T		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CCATTGTCACGTACATGGCCC	0.552													A	143826976	G	A	143826976	2	1	195	1	0	0	0	0	0	0	0	1	10976	1132	40	1		1	OR2A14	7	143826976	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	125054	143826976	15311687	727	107831											
ZNF786	136051	broad.mit.edu	37	chr7	148768017	148768017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggaagggcctctctcccGtgtgcaggcgctgatggctg	15	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:148768017G>A	uc003wfh.2	-	4	1984	c.1847C>T	c.(1846-1848)ACG>ATG	p.T616M	ZNF786_uc011kuk.1_Missense_Mutation_p.T579M|ZNF786_uc003wfi.2_Missense_Mutation_p.T530M	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTCTCTCCCGTGTGCAGGCG	0.647													A	148768017	G	A	148768017	3	1	195	1	0	0	0	0	1	0	0	0	18155	1145	40	1	505	1	ZNF786	7	148768017	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4941041	148768017	10370646	728	107832											
ZNF777	27153	broad.mit.edu	37	chr7	149152696	149152696	+	Frame_Shift_Del	DEL	G	G	-													aactgttggggaaagggtcaGggggtctttctcaggagctt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:149152695_149152695AG>A	uc003wfv.3	-	1	582	c.419_419CT>T	c.(418-420)ctgfs	p.L140fs		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	140					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)			GGAAAGGGTCAGGGGGTCTTT	0.602													-	149152696	G	-	149152696	7	5	195	1	0	1	0	1	0	0	0	0	18147	991	35	0	2097	0	ZNF777	7	149152696	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	384679	149152696	9985967	729	107833											
MLL3	58508	broad.mit.edu	37	chr7	151856005	151856005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcttgtttctcctcttcGtcctttttccttttctttga	4	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:151856005G>A	uc003wla.2	-	44	11832	c.11613C>T	c.(11611-11613)GAC>GAT	p.D3871D	MLL3_uc003wkz.2_Silent_p.D2932D|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Silent_p.D1380D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3871					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTCCTCTTCGTCCTTTTTCC	0.458			N		medulloblastoma								A	151856005	G	A	151856005	2	1	195	1	0	0	0	0	0	0	0	1	9622	1136	40	1		1	MLL3	7	151856005	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2703309	151856005	7282658	730	107834											
DPP6	1804	broad.mit.edu	37	chr7	154263935	154263935	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttttaggaatcattAagagccatcagatatgaaat	6	5	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:154263935A>T	uc003wlk.2	+	5	690	c.561A>T	c.(559-561)TTA>TTT	p.L187F	DPP6_uc003wli.2_Missense_Mutation_p.L123F|DPP6_uc003wlj.2_Missense_Mutation_p.L187F|DPP6_uc003wlm.2_Missense_Mutation_p.L125F|DPP6_uc011kvq.1_Missense_Mutation_p.L125F	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	187	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			AGGAATCATTAAGAGCCATCA	0.303													T	154263935	A	T	154263935	3	4	195	1	0	0	0	0	1	0	0	0	4730	359	13	5	695	5	DPP6	7	154263935	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2407930	154263935	4874728	731	107835											
VIPR2	7434	broad.mit.edu	37	chr7	158896468	158896468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgctctcatcctccgggtCgctgtagccacaggcatcga	10	15	1	0	rs149519347		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr7:158896468C>T	uc003woh.2	-	4	523	c.337G>A	c.(337-339)GAC>AAC	p.D113N	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	113	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	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)		TCCTCCGGGTCGCTGTAGCCA	0.532													T	158896468	C	T	158896468	3	4	195	1	0	0	0	0	1	0	0	0	17167	884	31	1	1019	1	VIPR2	7	158896468	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4632533	158896468	242195	732	107836											
CSMD1	64478	broad.mit.edu	37	chr8	3245111	3245111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccgggtcacagctgaaaGtcactgtggacctgatgcca	11	13	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:3245111G>T	uc011kwk.1	-	18	3080	c.2690C>A	c.(2689-2691)ACT>AAT	p.T897N	CSMD1_uc011kwj.1_Missense_Mutation_p.T289N|CSMD1_uc003wqe.2_Missense_Mutation_p.T53N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	897	Extracellular (Potential).|Sushi 5.					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)		ACAGCTGAAAGTCACTGTGGA	0.612													T	3245111	G	T	3245111	3	4	195	1	0	0	0	0	1	0	0	0	3944	1029	36	5	8219	5	CSMD1	8	3245111	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08		3245111	143118911	733	107837											
DEFA4	1669	broad.mit.edu	37	chr8	6794409	6794409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatagcagcgaggagggCgataatcctcatggctgggg	17	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:6794409C>T	uc003wqu.1	-	2	64	c.13G>A	c.(13-15)GCC>ACC	p.A5T		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	5					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCGAGGAGGGCGATAATCCTC	0.617													T	6794409	C	T	6794409	3	4	195	1	0	0	0	0	1	0	0	0	4391	768	27	1	288	1	DEFA4	8	6794409	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3549298	6794409	139569613	734	107838											
TNKS	8658	broad.mit.edu	37	chr8	9590873	9590873	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcatggggcttctgtcaaTgtggcggacttatggaaatt	14	6	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:9590873T>C	uc003wss.2	+	15	2237	c.2232T>C	c.(2230-2232)AAT>AAC	p.N744N	TNKS_uc011kww.1_Silent_p.N507N|TNKS_uc010lrt.1_5'Flank	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	744	ANK 11.				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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CTTCTGTCAATGTGGCGGACT	0.413													C	9590873	T	C	9590873	2	2	195	1	0	0	0	0	0	0	0	1	16316	1461	51	3		3	TNKS	8	9590873	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2796464	9590873	136773149	735	107839											
TNKS	8658	broad.mit.edu	37	chr8	9609295	9609295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctttagcagagttggcCgtaggaggagcctccaatgc	14	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:9609295C>T	uc003wss.2	+	19	3014	c.3009C>T	c.(3007-3009)GCC>GCT	p.A1003A	TNKS_uc011kww.1_Silent_p.A766A|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1003					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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		CAGAGTTGGCCGTAGGAGGAG	0.547													T	9609295	C	T	9609295	2	4	195	1	0	0	0	0	0	0	0	1	16316	639	23	1		1	TNKS	8	9609295	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	18422	9609295	136754727	736	107840											
RP1L1	94137	broad.mit.edu	37	chr8	10469597	10469597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgtgggtgtccttgcGgtagtgagaatgcctgggat	18	6	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:10469597G>A	uc003wtc.2	-	4	2240	c.2011C>T	c.(2011-2013)CGC>TGC	p.R671C		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	671					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GTGTCCTTGCGGTAGTGAGAA	0.642													A	10469597	G	A	10469597	3	1	195	1	0	0	0	0	1	0	0	0	13533	1116	39	1	5195	1	RP1L1	8	10469597	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	860302	10469597	135894425	737	107841											
FAM86B1	85002	broad.mit.edu	37	chr8	12044028	12044028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagctgctcgaggaccCggctgtgagggtcgctgaag	17	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:12044028C>T	uc010lse.2	-	5	518	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_Intron|FAM86B1_uc003wvi.3_Intron|FAM86B1_uc010lsd.2_Intron|FAM86B1_uc003wvh.3_Intron|FAM86B1_uc011kxq.1_Intron|FAM86B1_uc010lsf.2_Intron|FAM86B1_uc003wvj.3_Missense_Mutation_p.R92Q|FAM86B1_uc003wvk.3_Missense_Mutation_p.R192Q|FAM86B1_uc010lsg.2_Intron|FAM86B1_uc003wvl.3_Intron	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	hypothetical protein LOC85002	158											0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CTCGAGGACCCGGCTGTGAGG	0.607													T	12044028	C	T	12044028	3	4	195	1	0	0	0	0	1	0	0	0	5644	652	23	1	429	1	FAM86B1	8	12044028	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1574431	12044028	134319994	738	107842											
SGCZ	137868	broad.mit.edu	37	chr8	13965704	13965704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctctgctctgatgtgCggcgtctccacagagtgccc	13	13	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:13965704C>T	uc003wwq.2	-	6	1248	c.588G>A	c.(586-588)CCG>CCA	p.P196P	SGCZ_uc010lss.2_Silent_p.P149P	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	183	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTCTGATGTGCGGCGTCTCCA	0.463													T	13965704	C	T	13965704	2	4	195	1	0	0	0	0	0	0	0	1	14204	755	27	1		1	SGCZ	8	13965704	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1921676	13965704	132398318	739	107843											
MTUS1	57509	broad.mit.edu	37	chr8	17503472	17503472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggctagggaaggagcccGaattccttggtgactgcaaa	15	8	0	1	rs148435996	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:17503472G>A	uc003wxv.2	-	15	4250	c.3776C>T	c.(3775-3777)TCG>TTG	p.S1259L	MTUS1_uc003wxt.2_Missense_Mutation_p.S506L|MTUS1_uc011kyg.1_Missense_Mutation_p.S404L|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.S1205L|MTUS1_uc003wxs.2_Missense_Mutation_p.S425L	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	1259						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		GAAGGAGCCCGAATTCCTTGG	0.552													A	17503472	G	A	17503472	3	1	195	1	0	0	0	0	1	0	0	0	9965	1059	37	1	40	1	MTUS1	8	17503472	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3537768	17503472	128860550	740	107844											
MTUS1	57509	broad.mit.edu	37	chr8	17611433	17611433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacaacgcagaaacggaCccggtctcgcatgctgagtt	11	11	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:17611433C>T	uc003wxv.2	-	2	2358	c.1884G>A	c.(1882-1884)GGG>GGA	p.G628G	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.G628G|MTUS1_uc010lsz.2_Silent_p.G628G	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	628						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CAGAAACGGACCCGGTCTCGC	0.433													T	17611433	C	T	17611433	2	4	195	1	0	0	0	0	0	0	0	1	9965	494	18	4		4	MTUS1	8	17611433	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	107961	17611433	128752589	741	107845											
MTUS1	57509	broad.mit.edu	37	chr8	17612446	17612446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagaaactggtgttagtgCttgtgtctccttttctccaa	8	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:17612446C>T	uc003wxv.2	-	2	1345	c.871G>A	c.(871-873)GCA>ACA	p.A291T	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.A291T|MTUS1_uc010lsz.2_Missense_Mutation_p.A291T	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	291						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		GGTGTTAGTGCTTGTGTCTCC	0.413													T	17612446	C	T	17612446	3	4	195	1	0	0	0	0	1	0	0	0	9965	797	28	2	3316	2	MTUS1	8	17612446	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1013	17612446	128751576	742	107846											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19277935	19277935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagagaaggacgttgcTtcccttccagaagcgggctc	12	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:19277935T>C	uc011kyn.1	-	7	2112	c.1048A>G	c.(1048-1050)AGC>GGC	p.S350G	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.S350G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.S349G	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	350	Lumenal (Potential).				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			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		AGGACGTTGCTTCCCTTCCAG	0.463													C	19277935	T	C	19277935	3	2	195	1	0	0	0	0	1	0	0	0	3938	1609	56	3	566	3	CSGALNACT1	8	19277935	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1665489	19277935	127086087	743	107847											
NPM2	10361	broad.mit.edu	37	chr8	21882970	21882970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagctcagtcaggagaggCggacttggaccttcagaccc	14	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:21882970C>T	uc003xab.2	+	3	740	c.82C>T	c.(82-84)CGG>TGG	p.R28W	NPM2_uc003xac.2_Missense_Mutation_p.R28W|NPM2_uc003xad.2_Missense_Mutation_p.R28W|NPM2_uc003xae.2_Missense_Mutation_p.R28W|NPM2_uc003xaf.2_Missense_Mutation_p.R28W	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	nucleoplasmin 2	28					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TCAGGAGAGGCGGACTTGGAC	0.622													T	21882970	C	T	21882970	3	4	195	1	0	0	0	0	1	0	0	0	10588	759	27	1	88	1	NPM2	8	21882970	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2605035	21882970	124481052	744	107848											
PDLIM2	64236	broad.mit.edu	37	chr8	22452116	22452116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtggagggcgccaagcGgagggacaggaggaagacca	20	7	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:22452116G>A	uc003xcc.1	+	10	1189	c.1055G>A	c.(1054-1056)CGG>CAG	p.R352Q		NM_176871	NP_789847	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 1	Error:Variant_position_missing_in_Q96JY6_after_alignment						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		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)		GGCGCCAAGCGGAGGGACAGG	0.597													A	22452116	G	A	22452116	3	1	195	1	0	0	0	0	1	0	0	0	11680	1116	39	1	1171	1	PDLIM2	8	22452116	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	569146	22452116	123911906	745	107849											
TNFRSF10D	8793	broad.mit.edu	37	chr8	23003347	23003348	+	Frame_Shift_Ins	INS	-	-	C													cctccgctgctggggttttcINSccagtggaactggcagctga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:23003346_23003347T>TC	uc003xcz.1	-	4	662_663	c.570_571A>GA	c.(568-573)gggaaafs	p.G190fs		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	190					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)		GCTGGGGTTTTCCCAGTGGAAC	0.505													C	23003348	-	C	23003347	7	5	195	1	0	1	1	0	0	0	0	0	16280	842	30	0	610	0	TNFRSF10D	8	23003347	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	551231	23003347	123360675	746	107850											
CHMP7	91782	broad.mit.edu	37	chr8	23106740	23106740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgaggggagctgcagcGggagtcagacttcatggcca	16	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:23106740G>A	uc003xdc.2	+	3	965	c.317G>A	c.(316-318)CGG>CAG	p.R106Q	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_5'UTR	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	106					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGCTGCAGCGGGAGTCAGAC	0.532													A	23106740	G	A	23106740	3	1	195	1	0	0	0	0	1	0	0	0	3361	1116	39	1	323	1	CHMP7	8	23106740	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	103393	23106740	123257282	747	107851											
ENTPD4	9583	broad.mit.edu	37	chr8	23291937	23291937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttatagttgacaggaaaCgaaaagcccctatgaaacac	7	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:23291937C>T	uc003xdl.2	-	12	1679	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	ENTPD4_uc011kzu.1_Silent_p.S497S|ENTPD4_uc003xdm.2_Silent_p.S497S|ENTPD4_uc011kzv.1_Silent_p.S505S	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	505	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGACAGGAAACGAAAAGCCCC	0.478													T	23291937	C	T	23291937	2	4	195	1	0	0	0	0	0	0	0	1	5141	523	19	1		1	ENTPD4	8	23291937	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	185197	23291937	123072085	748	107852											
ENTPD4	9583	broad.mit.edu	37	chr8	23292942	23292942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgagaggcgtacagtcCtcggtcaaagcgttcccgca	12	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:23292942C>T	uc003xdl.2	-	11	1587	c.1423G>A	c.(1423-1425)GGA>AGA	p.G475R	ENTPD4_uc011kzu.1_Missense_Mutation_p.G467R|ENTPD4_uc003xdm.2_Missense_Mutation_p.G467R|ENTPD4_uc011kzv.1_Missense_Mutation_p.G475R	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	475	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GCGTACAGTCCTCGGTCAAAG	0.438													T	23292942	C	T	23292942	3	4	195	1	0	0	0	0	1	0	0	0	5141	690	24	4	439	4	ENTPD4	8	23292942	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1005	23292942	123071080	749	107853											
ADAM28	10863	broad.mit.edu	37	chr8	24171018	24171018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaaagaattatgacagCacctgtgggatggatggtgt	14	4	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:24171018C>T	uc003xdy.2	+	6	584	c.501C>T	c.(499-501)AGC>AGT	p.S167S	ADAM28_uc003xdx.2_Silent_p.S167S|ADAM28_uc011kzz.1_Intron|ADAM28_uc011laa.1_RNA	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	167	Cysteine switch (By similarity).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTATGACAGCACCTGTGGGA	0.433													T	24171018	C	T	24171018	2	4	195	1	0	0	0	0	0	0	0	1	246	709	25	2		2	ADAM28	8	24171018	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	878076	24171018	122193004	750	107854											
ADAM28	10863	broad.mit.edu	37	chr8	24187564	24187564	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggccacaactttggaAtgtttcatgacgactattct	8	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:24187564A>T	uc003xdy.2	+	11	1122	c.1039A>T	c.(1039-1041)ATG>TTG	p.M347L	ADAM28_uc003xdx.2_Missense_Mutation_p.M347L|ADAM28_uc011kzz.1_Missense_Mutation_p.M114L|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.M34L	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	347	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAACTTTGGAATGTTTCATGA	0.443													T	24187564	A	T	24187564	3	4	195	1	0	0	0	0	1	0	0	0	246	101	4	5	1081	5	ADAM28	8	24187564	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	16546	24187564	122176458	751	107855											
NEFM	4741	broad.mit.edu	37	chr8	24773137	24773137	+	Frame_Shift_Del	DEL	A	A	-													ggacaccatccagcagctggAaaatgagcttcggggcacaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:24773136_24773136GA>G	uc003xed.4	+	1	1132	c.1099_1099GA>G	c.(1099-1101)gaafs	p.E367fs	NEFM_uc011lac.1_Frame_Shift_Del_p.E367fs|NEFM_uc010lue.3_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	367	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)		CCAGCAGCTGGAAAATGAGCT	0.517													-	24773137	A	-	24773137	7	5	195	1	0	1	0	1	0	0	0	0	10316	246	9	0	1106	0	NEFM	8	24773137	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	585573	24773137	121590885	752	107856											
CDCA2	157313	broad.mit.edu	37	chr8	25364716	25364716	+	Frame_Shift_Del	DEL	A	A	-													tggtcgaagtttacatttggAaaaaaatggaaatcacacac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:25364715_25364715GA>G	uc003xep.1	+	14	3010	c.2533_2533GA>G	c.(2533-2535)gaafs	p.E845fs	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Frame_Shift_Del_p.E830fs|CDCA2_uc003xer.1_Frame_Shift_Del_p.E508fs	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	845					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)		TTTACATTTGGAAAAAAATGG	0.393													-	25364716	A	-	25364716	7	5	195	1	0	1	0	1	0	0	0	0	3086	246	9	0	2588	0	CDCA2	8	25364716	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	591579	25364716	120999306	753	107857											
ESCO2	157570	broad.mit.edu	37	chr8	27633949	27633949	+	Frame_Shift_Del	DEL	A	A	-													gtttttatcaaaacagtgatAaaaatgaagaaaacctgcat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:27633948_27633948TA>T	uc003xgg.3	+	2	206	c.123_123TA>T	c.(121-123)gatfs	p.D41fs	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Frame_Shift_Del_p.D41fs	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	41					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)		AAAACAGTGATAAAAATGAAG	0.328									SC Phocomelia syndrome				-	27633949	A	-	27633949	7	5	195	1	0	1	0	1	0	0	0	0	5249	363	13	0	130	0	ESCO2	8	27633949	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	2269233	27633949	118730073	754	107858											
HMBOX1	79618	broad.mit.edu	37	chr8	28902895	28902895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttacttcaatgagaatcAatacccagatgaagcaaaga	7	8	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:28902895A>G	uc003xhd.3	+	7	1211	c.869A>G	c.(868-870)CAA>CGA	p.Q290R	HMBOX1_uc010lvd.2_Missense_Mutation_p.Q290R|HMBOX1_uc003xhc.3_Missense_Mutation_p.Q290R|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.Q290R|HMBOX1_uc011lay.1_Missense_Mutation_p.Q290R|HMBOX1_uc003xhf.2_Missense_Mutation_p.Q278R|HMBOX1_uc003xhg.2_Missense_Mutation_p.Q278R	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	290	Homeobox.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AATGAGAATCAATACCCAGAT	0.403													G	28902895	A	G	28902895	3	3	195	1	0	0	0	0	1	0	0	0	7218	130	5	3	891	3	HMBOX1	8	28902895	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1268946	28902895	117461127	755	107859											
TEX15	56154	broad.mit.edu	37	chr8	30702292	30702292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttatcttcttcagttccTgatgctacatccaactcata	3	12	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:30702292T>C	uc003xil.2	-	1	4242	c.4242A>G	c.(4240-4242)TCA>TCG	p.S1414S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1414										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCAGTTCCTGATGCTACAT	0.368													C	30702292	T	C	30702292	2	2	195	1	0	0	0	0	0	0	0	1	15776	1567	55	3		3	TEX15	8	30702292	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1799397	30702292	115661730	756	107860											
UNC5D	137970	broad.mit.edu	37	chr8	35544067	35544067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttccctttgaagtggaTgggagctgggaagtgtggag	17	4	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:35544067T>C	uc003xjr.1	+	7	1252	c.924T>C	c.(922-924)GAT>GAC	p.D308D	UNC5D_uc003xjs.1_Silent_p.D303D|UNC5D_uc003xjt.1_Silent_p.D77D	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	308	Extracellular (Potential).|TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGAAGTGGATGGGAGCTGGG	0.517													C	35544067	T	C	35544067	2	2	195	1	0	0	0	0	0	0	0	1	16992	1461	51	3		3	UNC5D	8	35544067	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	4841775	35544067	110819955	757	107861											
ASH2L	9070	broad.mit.edu	37	chr8	37967974	37967974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatacctatttcctccGgaagcaagcaagtaagaaca	9	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:37967974G>A	uc003xkt.3	+	4	537	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	ASH2L_uc011lbk.1_Missense_Mutation_p.R21Q|ASH2L_uc003xku.3_Missense_Mutation_p.R66Q|ASH2L_uc010lwa.2_Missense_Mutation_p.R66Q	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	160					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			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TATTTCCTCCGGAAGCAAGCA	0.443													A	37967974	G	A	37967974	3	1	195	1	0	0	0	0	1	0	0	0	1042	1116	39	1	493	1	ASH2L	8	37967974	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2423907	37967974	108396048	758	107862											
FGFR1	2260	broad.mit.edu	37	chr8	38282177	38282177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccactgttttgttggcGggcaaccctgcttgcaggat	14	10	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:38282177G>A	uc003xlp.2	-	7	1728	c.786C>T	c.(784-786)CCC>CCT	p.P262P	FGFR1_uc011lbo.1_Silent_p.P260P|FGFR1_uc011lbp.1_Silent_p.P173P|FGFR1_uc011lbq.1_Silent_p.P171P|FGFR1_uc010lwk.2_Silent_p.P254P|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Silent_p.P102P|FGFR1_uc011lbt.1_Silent_p.P171P|FGFR1_uc011lbu.1_Silent_p.P293P|FGFR1_uc011lbv.1_Silent_p.P260P|FGFR1_uc011lbw.1_Silent_p.P173P|FGFR1_uc011lbx.1_Silent_p.P173P|FGFR1_uc003xlv.2_Silent_p.P173P|FGFR1_uc003xlu.2_Silent_p.P171P	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	262	Ig-like C2-type 3.|Extracellular (Potential).				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			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	TTTTGTTGGCGGGCAACCCTG	0.587		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38282177	G	A	38282177	2	1	195	1	0	0	0	0	0	0	0	1	5863	1103	39	1		1	FGFR1	8	38282177	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	314203	38282177	108081845	759	107863											
HTRA4	203100	broad.mit.edu	37	chr8	38840069	38840069	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaatgctgtccctcacTgtgccgtaagcatgtgtttg	10	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:38840069T>C	uc003xmj.2	+	7	1282	c.1167T>C	c.(1165-1167)ACT>ACC	p.T389T		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	389	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TGTCCCTCACTGTGCCGTAAG	0.418													C	38840069	T	C	38840069	2	2	195	1	0	0	0	0	0	0	0	1	7456	1567	55	3		3	HTRA4	8	38840069	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	557892	38840069	107523953	760	107864											
ADAM32	203102	broad.mit.edu	37	chr8	39131867	39131867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactcagacatatgccagCcagtaagtaggttagaagag	11	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:39131867C>T	uc003xmt.3	+	21	2483	c.2238C>T	c.(2236-2238)AGC>AGT	p.S746S	ADAM32_uc011lch.1_Silent_p.S647S|ADAM32_uc003xmu.3_Intron|ADAM32_uc003xmv.2_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	746	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		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)			CATATGCCAGCCAGTAAGTAG	0.303													T	39131867	C	T	39131867	2	4	195	1	0	0	0	0	0	0	0	1	249	738	26	2		2	ADAM32	8	39131867	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	291798	39131867	107232155	761	107865											
HOOK3	84376	broad.mit.edu	37	chr8	42812253	42812253	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagctgatgagtaaagaatCtcctgtctctgctggaaatg	10	8	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:42812253C>A	uc003xpr.2	+	7	727	c.485C>A	c.(484-486)TCT>TAT	p.S162Y	HOOK3_uc010lxq.1_Missense_Mutation_p.S162Y	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	162	Sufficient for interaction with microtubules.				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			ovary(1)|breast(1)	2	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)			AGTAAAGAATCTCCTGTCTCT	0.308			T	RET	papillary thyroid								A	42812253	C	A	42812253	3	1	195	1	0	0	0	0	1	0	0	0	7284	913	32	5	511	5	HOOK3	8	42812253	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3680386	42812253	103551769	762	107866											
HGSNAT	138050	broad.mit.edu	37	chr8	43048942	43048942	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatgaccccgagggcatcCtgggcaccatcaactccatc	8	17	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:43048942C>A	uc003xpx.3	+	14	1468	c.1420C>A	c.(1420-1422)CTG>ATG	p.L474M		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	502	Helical; (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	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)			CGAGGGCATCCTGGGCACCAT	0.428													A	43048942	C	A	43048942	3	1	195	1	0	0	0	0	1	0	0	0	7088	680	24	5	1474	5	HGSNAT	8	43048942	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	236689	43048942	103315080	763	107867											
KIAA0146	23514	broad.mit.edu	37	chr8	48641512	48641512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcgccttttcctgtgGggactgctcccgggtggtca	15	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:48641512G>T	uc003xqd.2	+	18	2462	c.2453G>T	c.(2452-2454)GGG>GTG	p.G818V	KIAA0146_uc011ldc.1_Missense_Mutation_p.G748V|KIAA0146_uc011ldd.1_Missense_Mutation_p.G758V|KIAA0146_uc003xqe.2_Missense_Mutation_p.G293V|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.G323V|KIAA0146_uc011ldg.1_Missense_Mutation_p.G308V|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	818											0		Lung NSC(58;0.175)				TTTTCCTGTGGGGACTGCTCC	0.547													T	48641512	G	T	48641512	3	4	195	1	0	0	0	0	1	0	0	0	8157	1232	43	5	2523	5	KIAA0146	8	48641512	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5592570	48641512	97722510	764	107868											
SNAI2	6591	broad.mit.edu	37	chr8	49831439	49831439	+	Frame_Shift_Del	DEL	T	T	-													tggagaaggttttggagcagTttttgcactggtatttcttt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:49831438_49831438GT>G	uc003xqp.3	-	2	910	c.735_735AC>C	c.(733-735)aacfs	p.N245fs		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	245					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTTTGGAGCAGTTTTTGCACT	0.458													-	49831439	T	-	49831439	7	5	195	1	0	1	0	1	0	0	0	0	14827	1725	60	0	76	0	SNAI2	8	49831439	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	1189927	49831439	96532583	765	107869											
SNAI2	6591	broad.mit.edu	37	chr8	49832564	49832564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatatgcatcttcagggcGcccaggctcacatattcctt	8	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:49832564G>A	uc003xqp.2	-	2	680	c.516C>T	c.(514-516)GGC>GGT	p.G172G		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	172	C2H2-type 2.				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TCTTCAGGGCGCCCAGGCTCA	0.483													A	49832564	G	A	49832564	2	1	195	1	0	0	0	0	0	0	0	1	14827	1074	38	1		1	SNAI2	8	49832564	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1125	49832564	96531458	766	107870											
RP1	6101	broad.mit.edu	37	chr8	55542602	55542602	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggattcaaatacacaagacCtcagcggtcagacaaatgaa	8	9	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:55542602C>G	uc003xsd.1	+	4	6308	c.6160C>G	c.(6160-6162)CTC>GTC	p.L2054V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2054					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			skin(7)|ovary(4)|pancreas(1)	12		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)			TACACAAGACCTCAGCGGTCA	0.343													G	55542602	C	G	55542602	3	3	195	1	0	0	0	0	1	0	0	0	13532	681	24	5	6170	5	RP1	8	55542602	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5710038	55542602	90821420	767	107871											
TGS1	96764	broad.mit.edu	37	chr8	56723563	56723563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggcttcttttttaaAggctgatgttgtgttcctca	10	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:56723563A>G	uc003xsj.3	+	11	2654	c.2267A>G	c.(2266-2268)AAG>AGG	p.K756R	TGS1_uc010lyh.2_Intron	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	756	Sufficient for catalytic activity.				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			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TCTTTTTTAAAGGCTGATGTT	0.448													G	56723563	A	G	56723563	3	3	195	1	0	0	0	0	1	0	0	0	15834	72	3	3	2309	3	TGS1	8	56723563	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1180961	56723563	89640459	768	107872											
NSMAF	8439	broad.mit.edu	37	chr8	59512542	59512542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttacctctttaaaatccGttgcaccatccagacagttt	5	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:59512542G>A	uc003xtt.2	-	17	1533	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	NSMAF_uc011lee.1_Missense_Mutation_p.T471M	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	440	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTAAAATCCGTTGCACCATC	0.318													A	59512542	G	A	59512542	3	1	195	1	0	0	0	0	1	0	0	0	10674	1145	40	1	1494	1	NSMAF	8	59512542	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2788979	59512542	86851480	769	107873											
TOX	9760	broad.mit.edu	37	chr8	59872540	59872540	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggctcggctctgtcaTgctcatatacatgttctcac	8	13	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:59872540T>G	uc003xtw.1	-	2	351	c.130A>C	c.(130-132)ATG>CTG	p.M44L		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	44						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		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)				GGCTCTGTCATGCTCATATAC	0.358													G	59872540	T	G	59872540	3	3	195	1	0	0	0	0	1	0	0	0	16374	1464	51	5	1482	5	TOX	8	59872540	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	359998	59872540	86491482	770	107874											
CHD7	55636	broad.mit.edu	37	chr8	61769375	61769375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctcccatgaagaggagGcggggaaggaggaaaaatgt	17	6	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:61769375G>A	uc003xue.2	+	34	8013	c.7536G>A	c.(7534-7536)AGG>AGA	p.R2512R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2512					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			TGAAGAGGAGGCGGGGAAGGA	0.542													A	61769375	G	A	61769375	2	1	195	1	0	0	0	0	0	0	0	1	3330	1194	42	2		2	CHD7	8	61769375	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1896835	61769375	84594647	771	107875											
CYP7B1	9420	broad.mit.edu	37	chr8	65527711	65527711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatagcttctgggtgcCgcagaagataatacattgcc	10	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:65527711C>T	uc003xvj.2	-	4	1133	c.929G>A	c.(928-930)CGG>CAG	p.R310Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	310					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			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTCTGGGTGCCGCAGAAGATA	0.473													T	65527711	C	T	65527711	3	4	195	1	0	0	0	0	1	0	0	0	4197	652	23	1	603	1	CYP7B1	8	65527711	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3758336	65527711	80836311	772	107876											
ADHFE1	137872	broad.mit.edu	37	chr8	67369066	67369066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctagccatggaatgtcttAcccaatttcaggtttagtga	8	8	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:67369066A>G	uc003xwb.3	+	11	1035	c.1001A>G	c.(1000-1002)TAC>TGC	p.Y334C	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.Y286C|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.Y264C	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	334					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		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)			GGAATGTCTTACCCAATTTCA	0.313													G	67369066	A	G	67369066	3	3	195	1	0	0	0	0	1	0	0	0	314	391	14	3	1043	3	ADHFE1	8	67369066	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1841355	67369066	78994956	773	107877											
C8orf44	56260	broad.mit.edu	37	chr8	67590095	67590095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcccagcactttgggaggCcaaggcaggcagatcacctg	12	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:67590095C>T	uc003xwo.1	+	2	305	c.152C>T	c.(151-153)GCC>GTC	p.A51V	SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.A51V	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	hypothetical protein LOC56260	51											0	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ctttgggaggccaaggcaggc	0.149													T	67590095	C	T	67590095	3	4	195	1	0	0	0	0	1	0	0	0	2429	739	26	2	154	2	C8orf44	8	67590095	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	221029	67590095	78773927	774	107878											
ARFGEF1	10565	broad.mit.edu	37	chr8	68170430	68170430	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacatacgaagggctgaaacGaagtcttttcctgaaaagtc	9	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:68170430G>A	uc003xxo.1	-	16	2721	c.2331C>T	c.(2329-2331)TTC>TTT	p.F777F	ARFGEF1_uc003xxl.1_Silent_p.F231F	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	777	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			GGGCTGAAACGAAGTCTTTTC	0.383													A	68170430	G	A	68170430	2	1	195	1	0	0	0	0	0	0	0	1	852	1049	37	1		1	ARFGEF1	8	68170430	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	580335	68170430	78193592	775	107879											
KCNB2	9312	broad.mit.edu	37	chr8	73849681	73849681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagtctgacaatgccacCgacagtcctaagagctctct	8	13	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:73849681C>T	uc003xzb.2	+	3	2679	c.2091C>T	c.(2089-2091)ACC>ACT	p.T697T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	697	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			ACAATGCCACCGACAGTCCTA	0.517													T	73849681	C	T	73849681	2	4	195	1	0	0	0	0	0	0	0	1	8013	639	23	1		1	KCNB2	8	73849681	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5679251	73849681	72514341	776	107880											
TCEB1	6921	broad.mit.edu	37	chr8	74859040	74859040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgacctcattggtttcgTtctcagcaaactgacctgta	7	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:74859040T>C	uc003xzx.1	-	4	249	c.164A>G	c.(163-165)AAC>AGC	p.N55S	TCEB1_uc003xzy.1_Missense_Mutation_p.N55S|TCEB1_uc003xzz.1_Missense_Mutation_p.N39S|TCEB1_uc003yaa.1_Missense_Mutation_p.N55S	NM_005648	NP_005639	Q15369	ELOC_HUMAN	elongin C	55					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				0	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			ATTGGTTTCGTTCTCAGCAAA	0.264													C	74859040	T	C	74859040	3	2	195	1	0	0	0	0	1	0	0	0	15676	1725	60	3	178	3	TCEB1	8	74859040	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1009359	74859040	71504982	777	107881											
LY96	23643	broad.mit.edu	37	chr8	74903693	74903693	+	Frame_Shift_Del	DEL	T	T	-													gaatcatgttaccatttctgTttttttccaccctgttttct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:74903692_74903692GT>G	uc003yad.3	+	0	129	c.15_15GT>G	c.(13-15)ctgfs	p.L5fs	LY96_uc022awb.1_Frame_Shift_Del_p.L5fs	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	5					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|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)			TACCATTTCTGTTTTTTTCCA	0.368													-	74903693	T	-	74903693	7	5	195	1	0	1	0	1	0	0	0	0	9102	1725	60	0	18	0	LY96	8	74903693	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	44653	74903693	71460329	778	107882											
HNF4G	3174	broad.mit.edu	37	chr8	76456166	76456166	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccagctgtgatgggtgcaAgggtttcttcagacgcagca	13	9	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:76456166A>C	uc003yaq.2	+	3	368	c.98A>C	c.(97-99)AAG>ACG	p.K33T	HNF4G_uc003yap.1_Missense_Mutation_p.K33T|HNF4G_uc003yar.2_Missense_Mutation_p.K70T	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	33	Nuclear receptor.				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			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GATGGGTGCAAGGGTTTCTTC	0.448													C	76456166	A	C	76456166	3	2	195	1	0	0	0	0	1	0	0	0	7254	72	3	5	215	5	HNF4G	8	76456166	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1552473	76456166	69907856	779	107883											
ZFHX4	79776	broad.mit.edu	37	chr8	77766792	77766792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttgaccccaacaatccGctgatgactggacaactgct	7	12	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:77766792G>A	uc003yav.2	+	10	7887	c.7500G>A	c.(7498-7500)CCG>CCA	p.P2500P	ZFHX4_uc003yau.1_Silent_p.P2545P|ZFHX4_uc003yaw.1_Silent_p.P2500P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2500						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAACAATCCGCTGATGACTG	0.537										HNSCC(33;0.089)			A	77766792	G	A	77766792	2	1	195	1	0	0	0	0	0	0	0	1	17632	1074	38	1		1	ZFHX4	8	77766792	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1310626	77766792	68597230	780	107884											
ZFHX4	79776	broad.mit.edu	37	chr8	77767737	77767737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctaccacggaggtctgCgatgacaaatttctcttttc	7	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:77767737C>T	uc003yav.2	+	10	8832	c.8445C>T	c.(8443-8445)TGC>TGT	p.C2815C	ZFHX4_uc003yau.1_Silent_p.C2860C|ZFHX4_uc003yaw.1_Silent_p.C2815C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2815						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGAGGTCTGCGATGACAAAT	0.483										HNSCC(33;0.089)			T	77767737	C	T	77767737	2	4	195	1	0	0	0	0	0	0	0	1	17632	776	27	1		1	ZFHX4	8	77767737	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	945	77767737	68596285	781	107885											
ZFHX4	79776	broad.mit.edu	37	chr8	77768336	77768336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggttcggcagctgatggCacagcaagaacttgatcgta	12	10	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:77768336C>T	uc003yav.2	+	10	9431	c.9044C>T	c.(9043-9045)GCA>GTA	p.A3015V	ZFHX4_uc003yau.1_Missense_Mutation_p.A3060V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A3015V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3015						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTGATGGCACAGCAAGAA	0.527										HNSCC(33;0.089)			T	77768336	C	T	77768336	3	4	195	1	0	0	0	0	1	0	0	0	17632	710	25	2	9213	2	ZFHX4	8	77768336	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	599	77768336	68595686	782	107886											
STMN2	11075	broad.mit.edu	37	chr8	80567284	80567284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagctgctattattgaacGtctgcaggaaaaggtaatct	9	7	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:80567284G>A	uc003ybj.2	+	4	518	c.467G>A	c.(466-468)CGT>CAT	p.R156H	STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron	NM_007029	NP_008960	Q93045	STMN2_HUMAN	superiorcervical ganglia, neural specific 10	156	Potential.				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ATTATTGAACGTCTGCAGGAA	0.443													A	80567284	G	A	80567284	3	1	195	1	0	0	0	0	1	0	0	0	15308	1145	40	1	481	1	STMN2	8	80567284	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2798948	80567284	65796738	783	107887											
ZBTB10	65986	broad.mit.edu	37	chr8	81411872	81411872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcattgtggtaagcggAaaaatcttcaaagctcataa	9	7	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:81411872A>G	uc003ybx.3	+	2	1714	c.1116A>G	c.(1114-1116)GGA>GGG	p.G372G	ZBTB10_uc003ybv.3_Silent_p.G80G|ZBTB10_uc003ybw.3_Silent_p.G372G|ZBTB10_uc010lzt.2_Silent_p.G372G	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	372	BTB.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	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)			TGGTAAGCGGAAAAATCTTCA	0.373													G	81411872	A	G	81411872	2	3	195	1	0	0	0	0	0	0	0	1	17520	233	9	3		3	ZBTB10	8	81411872	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	844588	81411872	64952150	784	107888											
PAG1	55824	broad.mit.edu	37	chr8	81888852	81888852	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgttctcctttgggacgagaCcgtggtggccattggtcccc	13	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:81888852C>G	uc003ybz.2	-	9	1937	c.1226G>C	c.(1225-1227)GGT>GCT	p.G409A		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	409	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGGGACGAGACCGTGGTGGCC	0.557													G	81888852	C	G	81888852	3	3	195	1	0	0	0	0	1	0	0	0	11388	507	18	5	76	5	PAG1	8	81888852	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	476980	81888852	64475170	785	107889											
LRRCC1	85444	broad.mit.edu	37	chr8	86047209	86047209	+	Frame_Shift_Del	DEL	A	A	-													gacctgtatggtaaaggaacAaaaaacaaaactggcagaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:86047208_86047208CA>C	uc003ycw.3	+	12	2303	c.2095_2095CA>C	c.(2095-2097)caafs	p.Q699fs	LRRCC1_uc022awx.1_Frame_Shift_Del_p.Q606fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.Q400fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.Q679fs	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	699					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						GGTAAAGGAACAAAAAACAAA	0.313													-	86047209	A	-	86047209	7	5	195	1	0	1	0	1	0	0	0	0	9026	130	5	0	2146	0	LRRCC1	8	86047209	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	4158357	86047209	60316813	786	107890											
WWP1	11059	broad.mit.edu	37	chr8	87473498	87473498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaatgcgactattgcagTtcgtcactggaacctgccgt	10	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:87473498T>C	uc003ydt.2	+	23	2825	c.2545T>C	c.(2545-2547)TTC>CTC	p.F849L		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	849	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			lung(1)|liver(1)	2						ACTATTGCAGTTCGTCACTGG	0.343													C	87473498	T	C	87473498	3	2	195	1	0	0	0	0	1	0	0	0	17412	1725	60	3	2627	3	WWP1	8	87473498	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1426289	87473498	58890524	787	107891											
MMP16	4325	broad.mit.edu	37	chr8	89198806	89198806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtctggtcaggtacaccGcatcggggcttcttcatcca	10	13	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:89198806G>A	uc003yeb.3	-	3	585	c.303C>T	c.(301-303)TGC>TGT	p.C101C	MMP16_uc003yec.2_Silent_p.C101C	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	101	Cysteine switch (By similarity).	Zinc; in inhibited form (By similarity).			collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CAGGTACACCGCATCGGGGCT	0.373													A	89198806	G	A	89198806	2	1	195	1	0	0	0	0	0	0	0	1	9655	1079	38	1		1	MMP16	8	89198806	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1725308	89198806	57165216	788	107892											
KIAA1429	25962	broad.mit.edu	37	chr8	95531563	95531564	+	Frame_Shift_Ins	INS	-	-	A													ttgcttcatattccgacataINSaaaaaaagaagacccttctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:95531562_95531563T>TA	uc003ygo.2	-	8	2234_2235	c.2163_2164A>TA	c.(2161-2166)tttatgfs	p.F721fs	KIAA1429_uc003ygp.3_Frame_Shift_Ins_p.F721fs|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	721					RNA splicing|mRNA processing	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)			TATTCCGACATAAAAAAAAGAA	0.401													A	95531564	-	A	95531563	7	5	195	1	0	1	1	0	0	0	0	0	8231	359	13	0	3393	0	KIAA1429	8	95531563	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	6332757	95531563	50832459	789	107893											
RGS22	26166	broad.mit.edu	37	chr8	100990288	100990289	+	Frame_Shift_Ins	INS	-	-	C													ggccagaatttaaacagaacINScccaaaaattgtcatctgta					rs35278820		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:100990287_100990288A>AC	uc003yjb.1	-	22	3571_3572	c.3376_3377T>GT	c.(3376-3378)gttfs	p.V1126fs	RGS22_uc003yja.1_Frame_Shift_Ins_p.V945fs|RGS22_uc003yjc.1_Frame_Shift_Ins_p.V1114fs|RGS22_uc022azf.1_Frame_Shift_Ins_p.V515fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1126	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.G1125V(1)	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)			TTTAAACAGAACCCCAAAAATT	0.277													C	100990289	-	C	100990288	7	5	195	1	0	1	1	0	0	0	0	0	13305	507	18	0	438	0	RGS22	8	100990288	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	5458725	100990288	45373734	790	107894											
KLF10	7071	broad.mit.edu	37	chr8	103663847	103663847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagacctgcagatgaccGtctctgaggaaggcacagaa	13	10	1	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:103663847G>A	uc011lhk.1	-	3	867	c.713C>T	c.(712-714)ACG>ATG	p.T238M	KLF10_uc011lhj.1_Missense_Mutation_p.T227M	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	238					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GCAGATGACCGTCTCTGAGGA	0.522											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	103663847	G	A	103663847	3	1	195	1	0	0	0	0	1	0	0	0	8338	1145	40	1	737	1	KLF10	8	103663847	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2673559	103663847	42700175	791	107895											
ZFPM2	23414	broad.mit.edu	37	chr8	106813836	106813836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcccccaagatatcaccaTggtccctcaagcttcagaga	6	14	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:106813836T>C	uc003ymd.2	+	8	1549	c.1526T>C	c.(1525-1527)ATG>ACG	p.M509T	ZFPM2_uc011lhs.1_Missense_Mutation_p.M240T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	509					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATATCACCATGGTCCCTCAA	0.507													C	106813836	T	C	106813836	3	2	195	1	0	0	0	0	1	0	0	0	17655	1464	51	3	1556	3	ZFPM2	8	106813836	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3149989	106813836	39550186	792	107896											
OXR1	55074	broad.mit.edu	37	chr8	107763096	107763096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagccattcttgtaaaaCgtttgggaatcgtacacttt	8	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:107763096C>T	uc011lht.1	+	16	2651	c.2552C>T	c.(2551-2553)ACG>ATG	p.T851M	OXR1_uc003ymf.2_Missense_Mutation_p.T823M|OXR1_uc011lhu.1_Missense_Mutation_p.T816M|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Missense_Mutation_p.T479M|OXR1_uc003ymk.2_Missense_Mutation_p.T220M|OXR1_uc003yml.2_Missense_Mutation_p.T193M	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	851					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCTTGTAAAACGTTTGGGAAT	0.353													T	107763096	C	T	107763096	3	4	195	1	0	0	0	0	1	0	0	0	11334	536	19	1	2729	1	OXR1	8	107763096	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	949260	107763096	38600926	793	107897											
ANGPT1	284	broad.mit.edu	37	chr8	108306187	108306188	+	Frame_Shift_Del	DEL	TT	TT	-													tttatattccttccagcctcTttggaaatctagacttccat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:108306186_108306187CTT>C	uc003ymn.3	-	5	1483_1484	c.1015_1016AAG>G	c.(1015-1017)agafs	p.R339fs	ANGPT1_uc011lhv.2_Frame_Shift_Del_p.R139fs|ANGPT1_uc003ymo.3_Frame_Shift_Del_p.R338fs|ANGPT1_uc003ymp.4_Frame_Shift_Del_p.R138fs	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	339	Fibrinogen C-terminal.				Tie receptor signaling pathway|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 ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|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	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)			CTTCCAGCCTCTTTGGAAATCT	0.366													-	108306188	TT	-	108306187	7	5	195	1	0	1	0	1	0	0	0	0	610	1617	56	0	497	0	ANGPT1	8	108306187	Frame_Shift_Del	DEL	TT	TCGA-CG-5728-01A-11D-1600-08	543091	108306187	38057835	794	107898											
PKHD1L1	93035	broad.mit.edu	37	chr8	110432768	110432768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccaagagaagacttcCtgcattagcaaataaaggaa	8	8	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:110432768C>T	uc003yne.2	+	23	2650	c.2546C>T	c.(2545-2547)CCT>CTT	p.P849L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	849	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAAGACTTCCTGCATTAGCA	0.264										HNSCC(38;0.096)			T	110432768	C	T	110432768	3	4	195	1	0	0	0	0	1	0	0	0	11972	681	24	4	2636	4	PKHD1L1	8	110432768	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2126581	110432768	35931254	795	107899											
CSMD3	114788	broad.mit.edu	37	chr8	113529433	113529433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggggacccctgggtcaCgacacgcagtggcaacagaa	13	12	2	1	rs138068999		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:113529433C>T	uc003ynu.2	-	28	4745	c.4586G>A	c.(4585-4587)CGT>CAT	p.R1529H	CSMD3_uc003yns.2_Missense_Mutation_p.R801H|CSMD3_uc003ynt.2_Missense_Mutation_p.R1489H|CSMD3_uc011lhx.1_Missense_Mutation_p.R1425H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1529	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCCTGGGTCACGACACGCAGT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113529433	C	T	113529433	3	4	195	1	0	0	0	0	1	0	0	0	3946	536	19	1	6713	1	CSMD3	8	113529433	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3096665	113529433	32834589	796	107900											
TRPS1	7227	broad.mit.edu	37	chr8	116426706	116426706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatttggtaggccaggcaCgtgactcaagtagtgcggat	15	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:116426706C>T	uc003ynz.2	-	6	3850	c.3391G>A	c.(3391-3393)GTG>ATG	p.V1131M	TRPS1_uc011lhy.1_Missense_Mutation_p.V1135M|TRPS1_uc003yny.2_Missense_Mutation_p.V1144M|TRPS1_uc010mcy.2_Missense_Mutation_p.V1131M	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1131	Mediates interaction with RNF4 (By similarity).				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			AGGCCAGGCACGTGACTCAAG	0.468									Langer-Giedion_syndrome				T	116426706	C	T	116426706	3	4	195	1	0	0	0	0	1	0	0	0	16590	536	19	1	458	1	TRPS1	8	116426706	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2897273	116426706	29937316	797	107901											
TRPS1	7227	broad.mit.edu	37	chr8	116430602	116430602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgcgttgcatacatatcCgccatttgcattctttcgcc	6	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:116430602C>T	uc003ynz.2	-	5	3199	c.2740G>A	c.(2740-2742)GGA>AGA	p.G914R	TRPS1_uc011lhy.1_Missense_Mutation_p.G918R|TRPS1_uc003yny.2_Missense_Mutation_p.G927R|TRPS1_uc010mcy.2_Missense_Mutation_p.G914R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	914	GATA-type.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			CATACATATCCGCCATTTGCA	0.478									Langer-Giedion_syndrome				T	116430602	C	T	116430602	3	4	195	1	0	0	0	0	1	0	0	0	16590	661	23	1	1113	1	TRPS1	8	116430602	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3896	116430602	29933420	798	107902											
C8orf85	441376	broad.mit.edu	37	chr8	117950492	117950492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccgcgatgggccccGgggacttccgccgctgcaga	15	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:117950492G>A	uc003yof.2	+	1	29	c.10G>A	c.(10-12)GGG>AGG	p.G4R		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	4											0						GATGGGCCCCGGGGACTTCCG	0.627													A	117950492	G	A	117950492	3	1	195	1	0	0	0	0	1	0	0	0	2441	1116	39	1	12	1	C8orf85	8	117950492	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1519890	117950492	28413530	799	107903											
EXT1	2131	broad.mit.edu	37	chr8	119123086	119123086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttttccaattgatcccaaGgaacgaaggggcgcagagcg	13	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:119123086G>T	uc003yok.1	-	1	973	c.200C>A	c.(199-201)CCT>CAT	p.P67H		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	67	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGATCCCAAGGAACGAAGGG	0.582			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	119123086	G	T	119123086	3	4	195	1	0	0	0	0	1	0	0	0	5323	1000	35	5	2084	5	EXT1	8	119123086	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1172594	119123086	27240936	800	107904											
ZHX1	11244	broad.mit.edu	37	chr8	124267604	124267604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatgatgaactgcaatccGtttattttccactttatttt	5	7	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:124267604G>A	uc003yqe.2	-	3	1013	c.583C>T	c.(583-585)CGG>TGG	p.R195W	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R195W|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R195W	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	195					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTGCAATCCGTTTATTTTCC	0.358													A	124267604	G	A	124267604	3	1	195	1	0	0	0	0	1	0	0	0	17672	1144	40	1	2042	1	ZHX1	8	124267604	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5144518	124267604	22096418	801	107905											
KLHL38	340359	broad.mit.edu	37	chr8	124663913	124663913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggtggagcacccccacGggcatgctggccatactctc	14	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:124663913G>A	uc003yqs.1	-	1	1278	c.1254C>T	c.(1252-1254)CCC>CCT	p.P418P		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	418	Kelch 3.										0						GCACCCCCACGGGCATGCTGG	0.557													A	124663913	G	A	124663913	2	1	195	1	0	0	0	0	0	0	0	1	8390	1103	39	1		1	KLHL38	8	124663913	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	396309	124663913	21700109	802	107906											
ZFAT	57623	broad.mit.edu	37	chr8	135596140	135596140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgaatttcttgccacacAtgtcacataggtgggttttc	8	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:135596140A>G	uc003yup.2	-	10	2997	c.2822T>C	c.(2821-2823)ATG>ACG	p.M941T	ZFAT_uc003yun.2_Missense_Mutation_p.M929T|ZFAT_uc003yuo.2_Missense_Mutation_p.M929T|ZFAT_uc010meh.2_Missense_Mutation_p.M929T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.M929T|ZFAT_uc010mej.2_Missense_Mutation_p.M879T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	941	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			CTTGCCACACATGTCACATAG	0.443													G	135596140	A	G	135596140	3	3	195	1	0	0	0	0	1	0	0	0	17629	217	8	3	937	3	ZFAT	8	135596140	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	10932227	135596140	10767882	803	107907											
ZFAT	57623	broad.mit.edu	37	chr8	135612794	135612794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttctgaattacgtggCgtttaaggcagtttttggtg	13	4	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:135612794C>T	uc003yup.2	-	7	2535	c.2360G>A	c.(2359-2361)CGC>CAC	p.R787H	ZFAT_uc003yun.2_Missense_Mutation_p.R775H|ZFAT_uc003yuo.2_Missense_Mutation_p.R775H|ZFAT_uc010meh.2_Missense_Mutation_p.R775H|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R775H|ZFAT_uc010mej.2_Missense_Mutation_p.R725H|ZFAT_uc003yur.2_Missense_Mutation_p.R775H|ZFATAS_uc003yus.1_RNA	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	787	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			AATTACGTGGCGTTTAAGGCA	0.428													T	135612794	C	T	135612794	3	4	195	1	0	0	0	0	1	0	0	0	17629	768	27	1	1411	1	ZFAT	8	135612794	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	16654	135612794	10751228	804	107908											
FAM135B	51059	broad.mit.edu	37	chr8	139164785	139164785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctccctcagggtagaacTtagtggatcacagggctcag	14	10	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:139164785T>G	uc003yuy.2	-	13	2104	c.1933A>C	c.(1933-1935)AGT>CGT	p.S645R	FAM135B_uc003yux.2_Missense_Mutation_p.S546R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207R|FAM135B_uc003yvb.2_Missense_Mutation_p.S207R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	645										ovary(7)|skin(2)	9	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)			AGGGTAGAACTTAGTGGATCA	0.488										HNSCC(54;0.14)			G	139164785	T	G	139164785	3	3	195	1	0	0	0	0	1	0	0	0	5449	1609	56	5	2319	5	FAM135B	8	139164785	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3551991	139164785	7199237	805	107909											
COL22A1	169044	broad.mit.edu	37	chr8	139833475	139833475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggtagtgtctgcaccagCgcacagtcaatgtgcaggga	14	9	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:139833475C>T	uc003yvd.2	-	7	1596	c.1149G>A	c.(1147-1149)GCG>GCA	p.A383A		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	383	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			TCTGCACCAGCGCACAGTCAA	0.567										HNSCC(7;0.00092)			T	139833475	C	T	139833475	2	4	195	1	0	0	0	0	0	0	0	1	3681	755	27	1		1	COL22A1	8	139833475	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	668690	139833475	6530547	806	107910											
SLC45A4	57210	broad.mit.edu	37	chr8	142221699	142221699	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accacattgtggaaaagaaaAttttttttctaaaataatca	4	5	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:142221699A>T	uc003ywd.1	-	8	2547	c.2239T>A	c.(2239-2241)TTT>ATT	p.F747I	SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_Missense_Mutation_p.I747N	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	Error:Variant_position_missing_in_Q5BKX6_after_alignment					transport	integral to membrane				ovary(2)	2	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)			GGAAAAGAAAATTTTTTTTCT	0.448													T	142221699	A	T	142221699	3	4	195	1	0	0	0	0	1	0	0	0	14643	101	4	5	161	5	SLC45A4	8	142221699	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2388224	142221699	4142323	807	107911											
TSNARE1	203062	broad.mit.edu	37	chr8	143399948	143399948	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggccatctgcttcacggagCtggcgctggctgcaatggtc	14	13	2	0	rs149572193		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:143399948C>G	uc003ywk.2	-	7	1059	c.941G>C	c.(940-942)AGC>ACC	p.S314T	TSNARE1_uc011lju.1_Missense_Mutation_p.S314T|TSNARE1_uc003ywj.2_Missense_Mutation_p.S314T|TSNARE1_uc003ywl.3_Missense_Mutation_p.S95T	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	314					vesicle-mediated transport	integral to membrane					0	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)					CTTCACGGAGCTGGCGCTGGC	0.657													G	143399948	C	G	143399948	3	3	195	1	0	0	0	0	1	0	0	0	16627	797	28	5	628	5	TSNARE1	8	143399948	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1178249	143399948	2964074	808	107912											
JRK	8629	broad.mit.edu	37	chr8	143747230	143747230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgctccagcttgggcGtgtgcagcgtgcgccgctgc	16	14	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:143747230G>A	uc003ywo.2	-	2	762	c.248C>T	c.(247-249)ACG>ATG	p.T83M	JRK_uc003ywp.2_Missense_Mutation_p.T83M|JRK_uc010mew.1_Missense_Mutation_p.T83M	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cagcttgggcgtgtgcagcgt	0													A	143747230	G	A	143747230	3	1	195	1	0	0	0	0	1	0	0	0	7964	1145	40	1	1558	1	JRK	8	143747230	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	347282	143747230	2616792	809	107913											
CYP11B1	1584	broad.mit.edu	37	chr8	143957721	143957721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatctggcgacagttccGcattcaacaggagctccgcc	11	14	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:143957721G>A	uc003yxi.2	-	5	897	c.890C>T	c.(889-891)GCG>GTG	p.A297V	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'UTR|CYP11B1_uc003yxj.2_Missense_Mutation_p.A297V|CYP11B1_uc010mey.2_Missense_Mutation_p.A368V	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	297					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			ovary(3)	3	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)	CGACAGTTCCGCATTCAACAG	0.587									Familial_Hyperaldosteronism_type_I				A	143957721	G	A	143957721	3	1	195	1	0	0	0	0	1	0	0	0	4145	1087	38	1	641	1	CYP11B1	8	143957721	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	210491	143957721	2406301	810	107914											
TOP1MT	116447	broad.mit.edu	37	chr8	144406745	144406745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacgtgacggtgttatcGgagcgcacctccttccactg	11	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:144406745G>A	uc003yxz.2	-	6	745	c.726C>T	c.(724-726)TCC>TCT	p.S242S	TOP1MT_uc011lkd.1_Silent_p.S144S|TOP1MT_uc011lke.1_Silent_p.S144S|TOP1MT_uc010mfb.2_Silent_p.S144S|TOP1MT_uc011lkf.1_Silent_p.S37S|TOP1MT_uc010mfd.1_Silent_p.S37S	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	242					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	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)	CGGTGTTATCGGAGCGCACCT	0.577													A	144406745	G	A	144406745	2	1	195	1	0	0	0	0	0	0	0	1	16361	1103	39	1		1	TOP1MT	8	144406745	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	449024	144406745	1957277	811	107915											
MAPK15	225689	broad.mit.edu	37	chr8	144804319	144804319	+	Frame_Shift_Del	DEL	G	G	-													tctgccttgcagggtgcccaGgggggtgccagggctttgct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:144804318_144804318AG>A	uc003yzj.3	+	13	1573	c.1532_1532AG>A	c.(1531-1533)cagfs	p.Q511fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	511					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CAGGGTGCCCAGGGGGGTGCC	0.667													-	144804319	G	-	144804319	7	5	195	1	0	1	0	1	0	0	0	0	9277	991	35	0	1587	0	MAPK15	8	144804319	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	397574	144804319	1559703	812	107916											
FAM83H	286077	broad.mit.edu	37	chr8	144810854	144810854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctccttggaacacgtgCgccaggctgcggtggatctt	13	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:144810854C>T	uc003yzk.2	-	5	846	c.777G>A	c.(775-777)GCG>GCA	p.A259A	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	259					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			GGAACACGTGCGCCAGGCTGC	0.667													T	144810854	C	T	144810854	2	4	195	1	0	0	0	0	0	0	0	1	5640	755	27	1		1	FAM83H	8	144810854	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6535	144810854	1553168	813	107917											
PLEC	5339	broad.mit.edu	37	chr8	144993399	144993399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtctcggggtcctccacGcaccgctccagcagctgcct	10	20	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:144993399G>A	uc003zaf.1	-	32	11171	c.11001C>T	c.(10999-11001)TGC>TGT	p.C3667C	PLEC_uc003zab.1_Silent_p.C3530C|PLEC_uc003zac.1_Silent_p.C3534C|PLEC_uc003zad.2_Silent_p.C3530C|PLEC_uc003zae.1_Silent_p.C3498C|PLEC_uc003zag.1_Silent_p.C3508C|PLEC_uc003zah.2_Silent_p.C3516C|PLEC_uc003zaj.2_Silent_p.C3557C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3667	Globular 2.|Plectin 16.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTCCTCCACGCACCGCTCCA	0.627													A	144993399	G	A	144993399	2	1	195	1	0	0	0	0	0	0	0	1	12052	1079	38	1		1	PLEC	8	144993399	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	182545	144993399	1370623	814	107918											
GRINA	2907	broad.mit.edu	37	chr8	145066190	145066190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcatctctctcatcGtcctcagctgttgtggggac	8	13	6	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:145066190G>A	uc003zan.1	+	4	803	c.637G>A	c.(637-639)GTC>ATC	p.V213I	GRINA_uc003zao.1_Missense_Mutation_p.V213I|GRINA_uc003zap.1_Missense_Mutation_p.V213I	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	213	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	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)			CTCTCTCATCGTCCTCAGCTG	0.552													A	145066190	G	A	145066190	3	1	195	1	0	0	0	0	1	0	0	0	6785	1145	40	1	647	1	GRINA	8	145066190	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	72791	145066190	1297832	815	107919											
CYC1	1537	broad.mit.edu	37	chr8	145150906	145150908	+	In_Frame_Del	DEL	CCT	CCT	-													tatccgtggtctcaccgtggCctcctctcttccttggacca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:145150905_145150907GCCT>G	uc003zaz.4	+	1	342_344	c.299_301GCCT>G	c.(298-303)ggcctc>gGtc	p.L102del	CYC1_uc003zay.3_In_Frame_Del_p.L43del	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	102					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCACCGTGGCCTCCTCTCTTC	0.645											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	145150908	CCT	-	145150906	7	5	195	1	0	1	0	1	0	0	0	0	4135	726	26	0	306	0	CYC1	8	145150906	In_Frame_Del	DEL	CCT	TCGA-CG-5728-01A-11D-1600-08	84716	145150906	1213116	816	107920											
GPR172A	79581	broad.mit.edu	37	chr8	145583773	145583773	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcccttctggtcgcttcAgctgctgccttccagggtct	10	15	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:145583773A>G	uc003zcc.1	+	3	778	c.621A>G	c.(619-621)TCA>TCG	p.S207S	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.S207S|GPR172A_uc003zce.1_Silent_p.S207S|GPR172A_uc010mfy.1_Silent_p.S207S|GPR172A_uc003zcf.1_Silent_p.S207S|GPR172A_uc011llc.1_Silent_p.S119S	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	207	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	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)			TGGTCGCTTCAGCTGCTGCCT	0.642													G	145583773	A	G	145583773	2	3	195	1	0	0	0	0	0	0	0	1	6669	175	7	3		3	GPR172A	8	145583773	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	432867	145583773	780249	817	107921											
NFKBIL2	4796	broad.mit.edu	37	chr8	145666225	145666225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcccgctcagcacccGgtctgtccagcagctcagca	11	16	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:145666225G>A	uc011llg.1	-	9	1055	c.1040C>T	c.(1039-1041)CCG>CTG	p.P347L		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	347					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			CTCAGCACCCGGTCTGTCCAG	0.657													A	145666225	G	A	145666225	3	1	195	1	0	0	0	0	1	0	0	0	10382	1116	39	1	3168	1	NFKBIL2	8	145666225	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	82452	145666225	697797	818	107922											
ARHGAP39	80728	broad.mit.edu	37	chr8	145770865	145770865	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctccagggccacgtgcagTgggtcggccttggcccgccg	15	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:145770865T>C	uc003zdt.1	-	7	2844	c.2289A>G	c.(2287-2289)CCA>CCG	p.P763P	ARHGAP39_uc011llk.1_Silent_p.P763P|ARHGAP39_uc003zds.1_Silent_p.P763P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	763	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CCACGTGCAGTGGGTCGGCCT	0.647													C	145770865	T	C	145770865	2	2	195	1	0	0	0	0	0	0	0	1	884	1683	59	3		3	ARHGAP39	8	145770865	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	104640	145770865	593157	819	107923											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773530	145773530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtactccactgggggctcctCgtagagcgggggttcatagc	15	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:145773530C>T	uc003zdt.1	-	6	1495	c.940G>A	c.(940-942)GAG>AAG	p.E314K	ARHGAP39_uc011llk.1_Missense_Mutation_p.E314K|ARHGAP39_uc003zds.1_Missense_Mutation_p.E314K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	314	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGGGGCTCCTCGTAGAGCGGG	0.706													T	145773530	C	T	145773530	3	4	195	1	0	0	0	0	1	0	0	0	884	893	31	1	2436	1	ARHGAP39	8	145773530	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2665	145773530	590492	820	107924											
ZNF34	80778	broad.mit.edu	37	chr8	145999295	145999295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgataaatcagggaagagtAggcgctaaagtgcttcccac	12	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:145999295A>G	uc003zdy.3	-	6	1141	c.1039T>C	c.(1039-1041)TAC>CAC	p.Y347H	ZNF34_uc010mgb.2_Missense_Mutation_p.Y244H|ZNF34_uc003zdx.3_Missense_Mutation_p.Y326H	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	347	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AGGGAAGAGTAGGCGCTAAAG	0.507													G	145999295	A	G	145999295	3	3	195	1	0	0	0	0	1	0	0	0	17853	420	15	3	647	3	ZNF34	8	145999295	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	225765	145999295	364727	821	107925											
ZNF16	7564	broad.mit.edu	37	chr8	146156790	146156790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacatacattacacacGtgaggcttttctccagtgtg	7	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:146156790G>A	uc003zet.2	-	4	1570	c.1383C>T	c.(1381-1383)CAC>CAT	p.H461H	ZNF16_uc003zeu.2_Silent_p.H461H	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	461	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	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)		CATTACACACGTGAGGCTTTT	0.483													A	146156790	G	A	146156790	2	1	195	1	0	0	0	0	0	0	0	1	17735	1136	40	1		1	ZNF16	8	146156790	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	157495	146156790	207232	822	107926											
ZNF16	7564	broad.mit.edu	37	chr8	146157713	146157713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtcaaaaccattacagtCcagatctttctcccctaagg	5	13	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr8:146157713C>T	uc003zet.2	-	4	647	c.460G>A	c.(460-462)GAC>AAC	p.D154N	ZNF16_uc003zeu.2_Missense_Mutation_p.D154N	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	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)		CCATTACAGTCCAGATCTTTC	0.572													T	146157713	C	T	146157713	3	4	195	1	0	0	0	0	1	0	0	0	17735	855	30	4	1592	4	ZNF16	8	146157713	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	923	146157713	206309	823	107927											
DOCK8	81704	broad.mit.edu	37	chr9	311983	311983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacttaaacgtgctgtgCgacgtgtctgggaaaggccc	13	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:311983C>T	uc003zgf.2	+	6	670	c.558C>T	c.(556-558)TGC>TGT	p.C186C	DOCK8_uc011lls.1_Silent_p.C186C|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.C118C|DOCK8_uc010mgt.2_Silent_p.C118C|DOCK8_uc003zgg.2_Silent_p.C118C|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	186					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		ACGTGCTGTGCGACGTGTCTG	0.557													T	311983	C	T	311983	2	4	195	1	0	0	0	0	0	0	0	1	4693	776	27	1		1	DOCK8	9	311983	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08		311983	140901448	824	107928											
SMARCA2	6595	broad.mit.edu	37	chr9	2076291	2076291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactcctggatccaaatagCgaagaagtttctgagaagga	10	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:2076291C>T	uc003zhc.2	+	13	2097	c.1998C>T	c.(1996-1998)AGC>AGT	p.S666S	SMARCA2_uc003zhd.2_Silent_p.S666S|SMARCA2_uc010mha.2_Silent_p.S657S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	666					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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCAAATAGCGAAGAAGTTT	0.388													T	2076291	C	T	2076291	2	4	195	1	0	0	0	0	0	0	0	1	14769	767	27	1		1	SMARCA2	9	2076291	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1764308	2076291	139137140	825	107929											
GLIS3	169792	broad.mit.edu	37	chr9	4118541	4118541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtattgaaatctatccCgatgccatcggacagcgggg	13	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:4118541C>T	uc003zhw.1	-	3	666	c.472G>A	c.(472-474)GGG>AGG	p.G158R	GLIS3_uc003zhx.1_Missense_Mutation_p.G313R|GLIS3_uc003zic.1_Missense_Mutation_p.G313R|GLIS3_uc003zie.1_Missense_Mutation_p.G313R|GLIS3_uc010mhh.1_Missense_Mutation_p.G188R|GLIS3_uc003zid.1_Missense_Mutation_p.G91R|GLIS3_uc010mhi.1_Missense_Mutation_p.G120R|GLIS3_uc003zif.1_Missense_Mutation_p.G91R|GLIS3_uc003zig.1_Missense_Mutation_p.G157R|GLIS3_uc003zih.1_Missense_Mutation_p.G91R|GLIS3_uc003zhy.1_Missense_Mutation_p.G91R|GLIS3_uc003zhz.1_Missense_Mutation_p.G91R|GLIS3_uc003zib.1_Missense_Mutation_p.G157R|GLIS3_uc010mhg.1_Missense_Mutation_p.G91R	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	158					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			ovary(1)	1		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)		AAATCTATCCCGATGCCATCG	0.627													T	4118541	C	T	4118541	3	4	195	1	0	0	0	0	1	0	0	0	6447	652	23	1	1887	1	GLIS3	9	4118541	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2042250	4118541	137094890	826	107930											
JAK2	3717	broad.mit.edu	37	chr9	5065030	5065030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatacaaagcaactgtcatGgcccaatttcgtgagtaata	7	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:5065030G>A	uc010mhm.2	+	8	1317	c.1204G>A	c.(1204-1206)GGC>AGC	p.G402S	JAK2_uc003ziw.2_Missense_Mutation_p.G402S	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	402	SH2; atypical.				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		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	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)		CAACTGTCATGGCCCAATTTC	0.328		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5065030	G	A	5065030	3	1	195	1	0	0	0	0	1	0	0	0	7938	1348	47	4	1230	4	JAK2	9	5065030	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	946489	5065030	136148401	827	107931											
RLN1	6013	broad.mit.edu	37	chr9	5335449	5335449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagctaagattggaatcCtttaatgcaggtacatactg	8	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:5335449C>T	uc003zjb.1	-	2	487	c.360G>A	c.(358-360)AAG>AAA	p.K120K		NM_006911	NP_008842	P04808	REL1_HUMAN	relaxin 1 preproprotein	120					female pregnancy|signal transduction	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GATTGGAATCCTTTAATGCAG	0.418													T	5335449	C	T	5335449	2	4	195	1	0	0	0	0	0	0	0	1	13391	680	24	4		4	RLN1	9	5335449	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	270419	5335449	135877982	828	107932											
ERMP1	79956	broad.mit.edu	37	chr9	5805191	5805191	+	Frame_Shift_Del	DEL	A	A	-													aataaacatccccaaaaggtAaaaagcaataaattttcctt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:5805190_5805190TA>T	uc003zjm.1	-	9	1805	c.1751_1751TA>A	c.(1750-1752)tacfs	p.Y584fs	ERMP1_uc022bdc.1_Intron|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Frame_Shift_Del_p.Y198fs	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	584					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)		CCCCAAAAGGTAAAAAGCAAT	0.373													-	5805191	A	-	5805191	7	5	195	1	0	1	0	1	0	0	0	0	5236	362	13	0	988	0	ERMP1	9	5805191	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	469742	5805191	135408240	829	107933											
C9orf123	90871	broad.mit.edu	37	chr9	7798583	7798583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtactttcaaacaacgCggtaggccttccctttgggg	13	10	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:7798583C>T	uc003zki.2	-	2	287	c.243G>A	c.(241-243)CCG>CCA	p.P81P	C9orf123_uc003zkj.2_Missense_Mutation_p.R110H			Q96GE9	CI123_HUMAN	Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.	78						integral to membrane					0		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		TCAAACAACGCGGTAGGCCTT	0.413													T	7798583	C	T	7798583	2	4	195	1	0	0	0	0	0	0	0	1	2453	768	27	1		1	C9orf123	9	7798583	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1993392	7798583	133414848	830	107934											
PTPRD	5789	broad.mit.edu	37	chr9	8465548	8465548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtttgtaaatccaccaTaatgcttgtcatcccccagg	7	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:8465548T>C	uc003zkk.2	-	31	4343	c.3632A>G	c.(3631-3633)TAT>TGT	p.Y1211C	PTPRD_uc003zkp.2_Missense_Mutation_p.Y800C|PTPRD_uc003zkq.2_Missense_Mutation_p.Y800C|PTPRD_uc003zkr.2_Missense_Mutation_p.Y795C|PTPRD_uc003zks.2_Missense_Mutation_p.Y790C|PTPRD_uc003zkl.2_Missense_Mutation_p.Y1202C|PTPRD_uc003zkm.2_Missense_Mutation_p.Y1198C|PTPRD_uc003zkn.2_Missense_Mutation_p.Y800C|PTPRD_uc003zko.2_Missense_Mutation_p.Y797C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1211	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		AAATCCACCATAATGCTTGTC	0.413										TSP Lung(15;0.13)			C	8465548	T	C	8465548	3	2	195	1	0	0	0	0	1	0	0	0	12799	1406	49	3	2231	3	PTPRD	9	8465548	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	666965	8465548	132747883	831	107935											
PTPRD	5789	broad.mit.edu	37	chr9	8518185	8518185	+	Frame_Shift_Del	DEL	C	C	-													agcacaggttcgctgggaggCccccgcccaatgttattgac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:8518184_8518184GC>G	uc003zkk.3	-	20	1950	c.1207_1207GC>C	c.(1207-1209)cctfs	p.P403fs	PTPRD_uc003zkp.3_Frame_Shift_Del_p.P403fs|PTPRD_uc003zkq.3_Frame_Shift_Del_p.P403fs|PTPRD_uc003zkr.3_Frame_Shift_Del_p.P397fs|PTPRD_uc003zks.3_Frame_Shift_Del_p.P393fs|PTPRD_uc022bdj.1_Frame_Shift_Del_p.P400fs	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	403	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G402G(1)|p.G402W(1)		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)		TCGCTGGGAGGCCCCCGCCCA	0.537										TSP Lung(15;0.13)			-	8518185	C	-	8518185	7	5	195	1	0	1	0	1	0	0	0	0	12799	726	26	0	4704	0	PTPRD	9	8518185	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	52637	8518185	132695246	832	107936											
C9orf93	203238	broad.mit.edu	37	chr9	15678851	15678851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaaagagactccagtAtaatgaaaaaagttgcagtg	8	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:15678851A>G	uc003zmd.2	+	10	1487	c.1172A>G	c.(1171-1173)TAT>TGT	p.Y391C	C9orf93_uc010mih.1_Missense_Mutation_p.Y391C|C9orf93_uc003zme.2_Missense_Mutation_p.Y298C|C9orf93_uc011lmu.1_Missense_Mutation_p.Y391C	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	391	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AGACTCCAGTATAATGAAAAA	0.303													G	15678851	A	G	15678851	3	3	195	1	0	0	0	0	1	0	0	0	2506	449	16	3	1206	3	C9orf93	9	15678851	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	7160666	15678851	125534580	833	107937											
BNC2	54796	broad.mit.edu	37	chr9	16582983	16582983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccagattttcctcaccaTgtgccacccagccatgttta	6	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:16582983T>C	uc003zml.2	-	4	571	c.431A>G	c.(430-432)CAT>CGT	p.H144R	BNC2_uc011lmw.1_Missense_Mutation_p.H49R|BNC2_uc003zmm.2_Missense_Mutation_p.H102R|BNC2_uc003zmq.1_Missense_Mutation_p.H158R|BNC2_uc003zmr.1_Missense_Mutation_p.H181R|BNC2_uc003zmp.1_Missense_Mutation_p.H172R|BNC2_uc010mij.1_Missense_Mutation_p.H66R|BNC2_uc003zmu.1_RNA|BNC2_uc010mim.1_RNA|BNC2_uc010min.1_RNA|BNC2_uc003zmo.1_Missense_Mutation_p.H66R|BNC2_uc003zms.1_RNA|BNC2_uc010mik.1_RNA|BNC2_uc010mil.1_RNA|BNC2_uc003zmt.1_RNA	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCCTCACCATGTGCCACCCA	0.348													C	16582983	T	C	16582983	3	2	195	1	0	0	0	0	1	0	0	0	1475	1464	51	3	2884	3	BNC2	9	16582983	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	904132	16582983	124630448	834	107938											
DENND4C	55667	broad.mit.edu	37	chr9	19346646	19346646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctatatgaacctaaaaagTcccctaggtagtaaatcttc	6	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:19346646T>G	uc003znq.2	+	18	3057	c.3024T>G	c.(3022-3024)AGT>AGG	p.S1008R	DENND4C_uc011lnc.1_Missense_Mutation_p.S338R|DENND4C_uc011lnd.1_Missense_Mutation_p.S296R|DENND4C_uc003znr.2_Missense_Mutation_p.S296R|DENND4C_uc003zns.2_Missense_Mutation_p.S190R|DENND4C_uc003znt.2_Missense_Mutation_p.S190R	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1008						integral to membrane				ovary(1)|skin(1)	2						ACCTAAAAAGTCCCCTAGGTA	0.383													G	19346646	T	G	19346646	3	3	195	1	0	0	0	0	1	0	0	0	4435	1664	58	5	3094	5	DENND4C	9	19346646	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2763663	19346646	121866785	835	107939											
KIAA1797	54914	broad.mit.edu	37	chr9	20988400	20988400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgttgcttaccagtcaaCatcctttcacaatacggctc	5	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:20988400C>T	uc003zog.1	+	43	5339	c.4976C>T	c.(4975-4977)ACA>ATA	p.T1659I	KIAA1797_uc003zoh.1_Missense_Mutation_p.T1095I	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1659						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TACCAGTCAACATCCTTTCAC	0.323													T	20988400	C	T	20988400	3	4	195	1	0	0	0	0	1	0	0	0	8258	478	17	4	5134	4	KIAA1797	9	20988400	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1641754	20988400	120225031	836	107940											
TMEM215	401498	broad.mit.edu	37	chr9	32784413	32784413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgagctgctgtgggtcCgcaaattgccctgcttccgg	13	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:32784413C>T	uc003zri.3	+	2	597	c.232C>T	c.(232-234)CGC>TGC	p.R78C		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral to membrane					0						GCTGTGGGTCCGCAAATTGCC	0.597													T	32784413	C	T	32784413	3	4	195	1	0	0	0	0	1	0	0	0	16135	652	23	1	234	1	TMEM215	9	32784413	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	11796013	32784413	108429018	837	107941											
KIF24	347240	broad.mit.edu	37	chr9	34269331	34269331	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttgcatctgctgctcttTcactgccagccaagtcaata	6	15	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:34269331T>C	uc003zua.3	-	8	1487	c.1367A>G	c.(1366-1368)GAA>GGA	p.E456G	KIF24_uc010mkb.2_Missense_Mutation_p.E487G	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	456	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGCTGCTCTTTCACTGCCAGC	0.353													C	34269331	T	C	34269331	3	2	195	1	0	0	0	0	1	0	0	0	8292	1783	62	3	2763	3	KIF24	9	34269331	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1484918	34269331	106944100	838	107942											
KIAA1161	57462	broad.mit.edu	37	chr9	34371111	34371111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgccacaagcgaggcccGcagggcggcgaacttctgcg	16	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:34371111G>A	uc003zue.3	-	3	1998	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	611	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGCGAGGCCCGCAGGGCGGCG	0.677													A	34371111	G	A	34371111	3	1	195	1	0	0	0	0	1	0	0	0	8211	1086	38	1	317	1	KIAA1161	9	34371111	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	101780	34371111	106842320	839	107943											
KIAA1045	23349	broad.mit.edu	37	chr9	34977144	34977144	+	Frame_Shift_Del	DEL	G	G	-													ccgagccgccttcctggctcGgggcagtgggagcaccgtca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:34977143_34977143CG>C	uc003zvq.3	+	5	1091	c.913_913CG>C	c.(913-915)cggfs	p.R305fs	KIAA1045_uc003zvr.3_Frame_Shift_Del_p.R305fs	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	305							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTTCCTGGCTCGGGGCAGTGG	0.597													-	34977144	G	-	34977144	7	5	195	1	0	1	0	1	0	0	0	0	8207	1116	39	0	932	0	KIAA1045	9	34977144	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	606033	34977144	106236287	840	107944											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										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)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	195	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	66506	35043650	106169781	841	107945											
RUSC2	9853	broad.mit.edu	37	chr9	35547974	35547974	+	Frame_Shift_Del	DEL	C	C	-													aagtatacacgaatacttcaCcccccaacctcagcactgga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:35547973_35547973AC>A	uc003zww.3	+	1	1710	c.1455_1455AC>A	c.(1453-1455)tcafs	p.S485fs	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Frame_Shift_Del_p.S485fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	485						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)			CGAATACTTCACCCCCCAACC	0.597													-	35547974	C	-	35547974	7	5	195	1	0	1	0	1	0	0	0	0	13751	507	18	0	1458	0	RUSC2	9	35547974	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	504324	35547974	105665457	842	107946											
FBXO10	26267	broad.mit.edu	37	chr9	37532017	37532017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgaagaaagatgcctgaCgctcggcagcggtaaatgtc	13	9	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:37532017C>T	uc004aab.2	-	4	1507	c.1458G>A	c.(1456-1458)GCG>GCA	p.A486A	FBXO10_uc004aac.2_Silent_p.A502A|FBXO10_uc004aad.2_Silent_p.A36A	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	486	PbH1 5.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		AGATGCCTGACGCTCGGCAGC	0.458													T	37532017	C	T	37532017	2	4	195	1	0	0	0	0	0	0	0	1	5726	523	19	1		1	FBXO10	9	37532017	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1984043	37532017	103681414	843	107947											
TMC1	117531	broad.mit.edu	37	chr9	75420425	75420425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacttggagtatggatAtgtaagtatgatgttaattt	12	2	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:75420425A>G	uc004aiz.1	+	18	2234	c.1694A>G	c.(1693-1695)TAT>TGT	p.Y565C	TMC1_uc010moz.1_Missense_Mutation_p.Y523C|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.Y419C|TMC1_uc010mpa.1_Missense_Mutation_p.Y419C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	565	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						GAGTATGGATATGTAAGTATG	0.259													G	75420425	A	G	75420425	3	3	195	1	0	0	0	0	1	0	0	0	15981	463	16	3	1748	3	TMC1	9	75420425	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	37888408	75420425	65793006	844	107948											
ALDH1A1	216	broad.mit.edu	37	chr9	75555148	75555148	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccactcactgaatcatgCcattcattgtttatgaagat	6	9	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:75555148C>T	uc004ajd.2	-	2	140	c.87G>A	c.(85-87)TGG>TGA	p.W29*	ALDH1A1_uc011lsh.1_5'UTR	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	29					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTGAATCATGCCATTCATTGT	0.368													T	75555148	C	T	75555148	4	4	195	1	0	0	0	0	0	1	0	0	490	740	26	2	1466	2	ALDH1A1	9	75555148	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	134723	75555148	65658283	845	107949											
C9orf95	54981	broad.mit.edu	37	chr9	77681726	77681726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatacttgcaaaaagaggTcctcttcagattttgttcca	6	9	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:77681726T>C	uc004aju.2	-	8	1125	c.527A>G	c.(526-528)GAC>GGC	p.D176G	C9orf95_uc004ajs.3_Missense_Mutation_p.D180G|C9orf95_uc004ajr.3_Missense_Mutation_p.D176G|C9orf95_uc004ajt.3_Missense_Mutation_p.D152G	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1 isoform 1	176					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0						CAAAAAGAGGTCCTCTTCAGA	0.383													C	77681726	T	C	77681726	3	2	195	1	0	0	0	0	1	0	0	0	2507	1667	58	3	80	3	C9orf95	9	77681726	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2126578	77681726	63531705	846	107950											
PRUNE2	158471	broad.mit.edu	37	chr9	79322121	79322121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttcaccaccgacactgTcatcatcagaacctgagctt	5	15	5	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:79322121T>C	uc010mpk.2	-	8	5193	c.5069A>G	c.(5068-5070)GAC>GGC	p.D1690G		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1690					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						ACCGACACTGTCATCATCAGA	0.468													C	79322121	T	C	79322121	3	2	195	1	0	0	0	0	1	0	0	0	12641	1667	58	3	4245	3	PRUNE2	9	79322121	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1640395	79322121	61891310	847	107951											
VPS13A	23230	broad.mit.edu	37	chr9	79984308	79984308	+	Frame_Shift_Del	DEL	T	T	-													tttctgaaggtgtagaagcaTttttttatgaaccttaccag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:79984307_79984307AT>A	uc004akr.3	+	62	8906	c.8646_8646AT>A	c.(8644-8646)gcafs	p.A2882fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.A2843fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2882					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						GTGTAGAAGCATTTTTTTATG	0.299													-	79984308	T	-	79984308	7	5	195	1	0	1	0	1	0	0	0	0	17186	1493	52	0	8897	0	VPS13A	9	79984308	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	662187	79984308	61229123	848	107952											
UBQLN1	29979	broad.mit.edu	37	chr9	86284162	86284164	+	In_Frame_Del	DEL	ACA	ACA	-													gcttctcatgtagggggcagAcaacatgttttgcatcagtt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:86284161_86284163GACA>G	uc004amv.3	-	6	1759_1761	c.1185_1187TGTC>C	c.(1183-1188)ttgtct>ttCt	p.395_396LS>F	UBQLN1_uc004amw.3_In_Frame_Del_p.395_396LS>F	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	395					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.L395L(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GTAGGGGGCAGACAACATGTTTT	0.409													-	86284164	ACA	-	86284162	7	5	195	1	0	1	0	1	0	0	0	0	16893	275	10	0	603	0	UBQLN1	9	86284162	In_Frame_Del	DEL	ACA	TCGA-CG-5728-01A-11D-1600-08	6299854	86284162	54929269	849	107953											
KIF27	55582	broad.mit.edu	37	chr9	86457221	86457221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtttcttcttatgatcccGgctggttttcttatagaaat	7	7	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:86457221G>A	uc004ana.2	-	17	3796	c.3652C>T	c.(3652-3654)CGG>TGG	p.R1218W	KIF27_uc010mpw.2_Missense_Mutation_p.R1152W|KIF27_uc010mpx.2_Missense_Mutation_p.R1121W	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1218	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TTATGATCCCGGCTGGTTTTC	0.378													A	86457221	G	A	86457221	3	1	195	1	0	0	0	0	1	0	0	0	8296	1115	39	1	561	1	KIF27	9	86457221	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	173059	86457221	54756210	850	107954											
CENPP	401541	broad.mit.edu	37	chr9	95099824	95099824	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttctgctttacaggTattagaaaagttctacagag	8	5	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:95099824T>C	uc004arz.2	+	3	831	c.291T>C	c.(289-291)AGT>AGC	p.S97S	CENPP_uc010mqx.2_5'UTR|CENPP_uc004ary.1_Silent_p.S97S	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	centromere protein P	97					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				ovary(2)	2						GCTTTACAGGTATTAGAAAAG	0.294													C	95099824	T	C	95099824	2	2	195	1	0	0	0	0	0	0	0	1	3240	1652	57	3		3	CENPP	9	95099824	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	8642603	95099824	46113607	851	107955											
BICD2	23299	broad.mit.edu	37	chr9	95481509	95481509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggccctcagcctcatagCggcccttctcctcggcgtgc	10	19	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:95481509C>T	uc004aso.1	-	5	1475	c.1418G>A	c.(1417-1419)CGC>CAC	p.R473H	BICD2_uc004asp.1_Missense_Mutation_p.R473H	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	473	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						AGCCTCATAGCGGCCCTTCTC	0.682													T	95481509	C	T	95481509	3	4	195	1	0	0	0	0	1	0	0	0	1429	768	27	1	1171	1	BICD2	9	95481509	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	381685	95481509	45731922	852	107956											
ZNF484	83744	broad.mit.edu	37	chr9	95610559	95610559	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatggggtctttttcttgaGgaaaccaggtgtgtgtttac	12	5	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:95610559G>T	uc004asu.1	-	5	659	c.510C>A	c.(508-510)TCC>TCA	p.S170S	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.S172S|ZNF484_uc010mrb.1_Silent_p.S134S|ZNF484_uc004asv.1_Silent_p.S134S	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTTTCTTGAGGAAACCAGGT	0.353													T	95610559	G	T	95610559	2	4	195	1	0	0	0	0	0	0	0	1	17934	987	35	5		5	ZNF484	9	95610559	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	129050	95610559	45602872	853	107957											
FGD3	89846	broad.mit.edu	37	chr9	95784667	95784667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggcagttcgggtgcagCaggggtaagtgccccatgct	16	10	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:95784667C>G	uc004asw.2	+	14	2181	c.1553C>G	c.(1552-1554)GCA>GGA	p.A518G	FGD3_uc004asx.2_Missense_Mutation_p.A518G|FGD3_uc004asz.2_Missense_Mutation_p.A518G|FGD3_uc011luc.1_Missense_Mutation_p.A121G	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	518					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			ovary(1)|breast(1)	2						TCGGGTGCAGCAGGGGTAAGT	0.612													G	95784667	C	G	95784667	3	3	195	1	0	0	0	0	1	0	0	0	5834	710	25	5	1599	5	FGD3	9	95784667	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	174108	95784667	45428764	854	107958											
TDRD7	23424	broad.mit.edu	37	chr9	100245161	100245161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgaaaccagagggatcGcacatgtttatttatttacc	9	7	0	2	rs142092319	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:100245161G>A	uc004axj.2	+	15	2668	c.2443G>A	c.(2443-2445)GCA>ACA	p.A815T	TDRD7_uc011lux.1_Missense_Mutation_p.A741T|TDRD7_uc010msp.1_Missense_Mutation_p.A67T|TDRD7_uc011luy.1_Missense_Mutation_p.A135T	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	815					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				CAGAGGGATCGCACATGTTTA	0.363													A	100245161	G	A	100245161	3	1	195	1	0	0	0	0	1	0	0	0	15732	1087	38	1	2497	1	TDRD7	9	100245161	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4460494	100245161	40968270	855	107959											
ANKS6	203286	broad.mit.edu	37	chr9	101552841	101552841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggttctgggcattgacaTcagccccgtgatccaacagg	12	13	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:101552841T>C	uc004ayu.2	-	2	428	c.407A>G	c.(406-408)GAT>GGT	p.D136G	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	136	ANK 3.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GGCATTGACATCAGCCCCGTG	0.602													C	101552841	T	C	101552841	3	2	195	1	0	0	0	0	1	0	0	0	692	1435	50	3	2264	3	ANKS6	9	101552841	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1307680	101552841	39660590	856	107960											
COL15A1	1306	broad.mit.edu	37	chr9	101787222	101787222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaccaggaactgatgttTtcatgggaccccctggatct	10	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:101787222T>C	uc004azb.1	+	15	2127	c.1921T>C	c.(1921-1923)TTC>CTC	p.F641L		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	641	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AACTGATGTTTTCATGGGACC	0.567													C	101787222	T	C	101787222	3	2	195	1	0	0	0	0	1	0	0	0	3672	1841	64	3	1979	3	COL15A1	9	101787222	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	234381	101787222	39426209	857	107961											
BAAT	570	broad.mit.edu	37	chr9	104133686	104133686	+	Frame_Shift_Del	DEL	T	T	-													ggtagctgtcaactggatcaTttttttagtgtggcacctgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:104133685_104133685AT>A	uc010mtd.3	-	1	111	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	BAAT_uc004bbd.4_Frame_Shift_Del_p.M1fs	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	1					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAACTGGATCATTTTTTTAGT	0.428													-	104133686	T	-	104133686	7	5	195	1	0	1	0	1	0	0	0	0	1280	1493	52	0	1267	0	BAAT	9	104133686	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	2346464	104133686	37079745	858	107962											
SMC2	10592	broad.mit.edu	37	chr9	106862450	106862450	+	Frame_Shift_Del	DEL	A	A	-													agctgcacagaaaactatagAaaaaaaggaggctaagctga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:106862449_106862449GA>G	uc004bbv.3	+	5	844	c.556_556GA>G	c.(556-558)gaafs	p.E186fs	SMC2_uc004bbu.1_Frame_Shift_Del_p.E186fs|SMC2_uc004bbw.3_Frame_Shift_Del_p.E186fs|SMC2_uc011lvl.2_Frame_Shift_Del_p.E186fs|SMC2_uc010mtg.1_Frame_Shift_Del_p.E41fs|SMC2_uc010mth.1_Frame_Shift_Del_p.E136fs|SMC2_uc004bbx.3_Frame_Shift_Del_p.E186fs	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	186					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.E186K(2)		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						GAAAACTATAGAAAAAAAGGA	0.299													-	106862450	A	-	106862450	7	5	195	1	0	1	0	1	0	0	0	0	14783	246	9	0	575	0	SMC2	9	106862450	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	2728764	106862450	34350981	859	107963											
KIAA0368	23392	broad.mit.edu	37	chr9	114125875	114125875	+	Frame_Shift_Del	DEL	T	T	-													aacaacaacttaccttcaagTtttttaagcagcaattctat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:114125874_114125874GT>G	uc004bfe.1	-	49	5908	c.5908_5908AC>C	c.(5908-5910)cttfs	p.L1970fs		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											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						TTACCTTCAAGTTTTTTAAGC	0.343													-	114125875	T	-	114125875	7	5	195	1	0	1	0	1	0	0	0	0	8171	1722	60	0	154	0	KIAA0368	9	114125875	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	7263425	114125875	27087556	860	107964											
KIAA0368	23392	broad.mit.edu	37	chr9	114137450	114137450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaacctaggaactagctcGcccagcactgacacatcaag	7	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:114137450G>A	uc004bfe.1	-	39	4587	c.4587C>T	c.(4585-4587)GGC>GGT	p.G1529G		NM_001080398	NP_001073867			KIAA0368 protein												0						GAACTAGCTCGCCCAGCACTG	0.408													A	114137450	G	A	114137450	2	1	195	1	0	0	0	0	0	0	0	1	8171	1074	38	1		1	KIAA0368	9	114137450	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	11575	114137450	27075981	861	107965											
KIAA1958	158405	broad.mit.edu	37	chr9	115421992	115421992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctactttgcccggacGgacagcgtcaagcgggagag	14	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:115421992G>A	uc004bgf.1	+	4	1969	c.1794G>A	c.(1792-1794)ACG>ACA	p.T598T	KIAA1958_uc011lwx.1_Silent_p.T626T	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	598										skin(1)	1						TTGCCCGGACGGACAGCGTCA	0.582													A	115421992	G	A	115421992	2	1	195	1	0	0	0	0	0	0	0	1	8264	1103	39	1		1	KIAA1958	9	115421992	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1284542	115421992	25791439	862	107966											
RGS3	5998	broad.mit.edu	37	chr9	116246469	116246469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccagaagacgcagaccGttccagactgcagagacccg	11	15	0	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:116246469G>A	uc004bhq.2	+	7	786	c.577G>A	c.(577-579)GTT>ATT	p.V193I	RGS3_uc004bhr.2_Missense_Mutation_p.V81I|RGS3_uc004bhs.2_Missense_Mutation_p.V83I	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	193	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GACGCAGACCGTTCCAGACTG	0.498													A	116246469	G	A	116246469	3	1	195	1	0	0	0	0	1	0	0	0	13306	1145	40	1	682	1	RGS3	9	116246469	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	824477	116246469	24966962	863	107967											
TNC	3371	broad.mit.edu	37	chr9	117786296	117786296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccatcaggttgacacGgtgacagttcctgtaccaga	9	13	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:117786296G>A	uc004bjj.3	-	27	6813	c.6451C>T	c.(6451-6453)CGT>TGT	p.R2151C	TNC_uc010mvf.2_Missense_Mutation_p.R1878C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	2151	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AGGTTGACACGGTGACAGTTC	0.547													A	117786296	G	A	117786296	3	1	195	1	0	0	0	0	1	0	0	0	16267	1116	39	1	162	1	TNC	9	117786296	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1539827	117786296	23427135	864	107968											
ASTN2	23245	broad.mit.edu	37	chr9	119188284	119188284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagggcactgtttccacgCggctctggatgtaggcactc	13	11	1	0	rs139072409	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:119188284C>T	uc004bjs.1	-	23	3967	c.3866G>A	c.(3865-3867)CGC>CAC	p.R1289H	ASTN2_uc004bjr.1_Missense_Mutation_p.R1285H|ASTN2_uc004bjt.1_Missense_Mutation_p.R1238H|ASTN2_uc004bjp.1_Missense_Mutation_p.R382H|ASTN2_uc004bjq.1_Missense_Mutation_p.R341H|ASTN2_uc011lxr.1_Missense_Mutation_p.R341H|ASTN2_uc011lxs.1_Missense_Mutation_p.R341H|ASTN2_uc011lxt.1_Missense_Mutation_p.R341H|ASTN2_uc004bjo.1_Missense_Mutation_p.R70H	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1289	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TGTTTCCACGCGGCTCTGGAT	0.582													T	119188284	C	T	119188284	3	4	195	1	0	0	0	0	1	0	0	0	1065	768	27	1	198	1	ASTN2	9	119188284	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1401988	119188284	22025147	865	107969											
ASTN2	23245	broad.mit.edu	37	chr9	119382602	119382602	+	Frame_Shift_Del	DEL	G	G	-													tacgtacaccggctgcagaaGggggctgcagttggggagcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:119382601_119382601AG>A	uc004bjt.2	-	16	3142	c.3041_3041CT>T	c.(3040-3042)cttfs	p.L1014fs	ASTN2_uc022bml.1_Frame_Shift_Del_p.L710fs|ASTN2_uc022bmm.1_Frame_Shift_Del_p.L714fs|ASTN2_uc004bjp.2_Frame_Shift_Del_p.L166fs|ASTN2_uc011lxr.2_Frame_Shift_Del_p.L117fs|ASTN2_uc011lxs.2_Frame_Shift_Del_p.L117fs|ASTN2_uc011lxt.2_Frame_Shift_Del_p.L117fs|ASTN2_uc004bjq.2_Frame_Shift_Del_p.L117fs|ASTN2_uc022bmn.1_Frame_Shift_Del_p.L117fs	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1065						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						CGGCTGCAGAAGGGGGCTGCA	0.567													-	119382602	G	-	119382602	7	5	195	1	0	1	0	1	0	0	0	0	1065	1000	35	0	969	0	ASTN2	9	119382602	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	194318	119382602	21830829	866	107970											
OR1L8	138881	broad.mit.edu	37	chr9	125330568	125330568	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgagagacagaaaactcaaGaagaaatacataggggtctg	12	5	2	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:125330568G>C	uc004bmp.1	-	1	189	c.189C>G	c.(187-189)TTC>TTG	p.F63L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3						GAAAACTCAAGAAGAAATACA	0.458													C	125330568	G	C	125330568	3	2	195	1	0	0	0	0	1	0	0	0	10967	933	33	5	744	5	OR1L8	9	125330568	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5947966	125330568	15882863	867	107971											
RABGAP1	23637	broad.mit.edu	37	chr9	125748541	125748541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggccgatgaggacagcGtagttttcagtaaactgact	12	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:125748541G>A	uc011lzh.1	+	4	567	c.433G>A	c.(433-435)GTA>ATA	p.V145I	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Missense_Mutation_p.V145I	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	145	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TGAGGACAGCGTAGTTTTCAG	0.423													A	125748541	G	A	125748541	3	1	195	1	0	0	0	0	1	0	0	0	12964	1145	40	1	443	1	RABGAP1	9	125748541	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	417973	125748541	15464890	868	107972											
CRB2	286204	broad.mit.edu	37	chr9	126125190	126125190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgcctcagacccgtgCgctccagggaccgagtgcca	13	16	1	1	rs138658467		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:126125190C>T	uc004bnx.1	+	2	233	c.141C>T	c.(139-141)TGC>TGT	p.C47C	CRB2_uc004bnw.1_Silent_p.C47C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	47	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CAGACCCGTGCGCTCCAGGGA	0.652													T	126125190	C	T	126125190	2	4	195	1	0	0	0	0	0	0	0	1	3849	776	27	1		1	CRB2	9	126125190	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	376649	126125190	15088241	869	107973											
NR6A1	2649	broad.mit.edu	37	chr9	127495601	127495601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttactagtgcctgggtcaAgctctgccaattcatcctga	8	12	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:127495601A>G	uc004bor.1	-	2	306	c.128T>C	c.(127-129)CTT>CCT	p.L43P	NR6A1_uc004boq.1_Missense_Mutation_p.L43P|NR6A1_uc010mwq.1_Missense_Mutation_p.L43P	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	43					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GCCTGGGTCAAGCTCTGCCAA	0.333													G	127495601	A	G	127495601	3	3	195	1	0	0	0	0	1	0	0	0	10637	72	3	3	1350	3	NR6A1	9	127495601	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1370411	127495601	13717830	870	107974											
RABEPK	10244	broad.mit.edu	37	chr9	127994881	127994881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcttggcaggtgacaTgaaatggcagaagctaaatc	10	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:127994881T>C	uc004bpi.2	+	8	856	c.683T>C	c.(682-684)ATG>ACG	p.M228T	RABEPK_uc004bpj.2_Missense_Mutation_p.M177T|RABEPK_uc004bpk.2_Missense_Mutation_p.M228T|RABEPK_uc004bpl.1_Missense_Mutation_p.M177T|RABEPK_uc004bpm.2_Missense_Mutation_p.M228T	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	228	Kelch 4.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						GCAGGTGACATGAAATGGCAG	0.483													C	127994881	T	C	127994881	3	2	195	1	0	0	0	0	1	0	0	0	12963	1464	51	3	705	3	RABEPK	9	127994881	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	499280	127994881	13218550	871	107975											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130656852	130656852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttcttgaggttgacaggtCggcggctacggccccgcagg	15	12	1	2	rs139501224	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:130656852C>T	uc004bso.1	-	4	355	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R45Q|ST6GALNAC6_uc011man.1_Missense_Mutation_p.D15N|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.R79Q|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R45Q|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R45Q|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	79	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						GTTGACAGGTCGGCGGCTACG	0.577													T	130656852	C	T	130656852	3	4	195	1	0	0	0	0	1	0	0	0	15227	884	31	1	781	1	ST6GALNAC6	9	130656852	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2661971	130656852	10556579	872	107976											
WDR34	89891	broad.mit.edu	37	chr9	131399202	131399202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctgccactcaccggccGtaggcacaggccaccacaga	10	19	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:131399202G>A	uc004bvq.1	-	3	664	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	WDR34_uc004bvs.1_Silent_p.Y171Y|WDR34_uc004bvr.1_Silent_p.Y180Y|WDR34_uc011mbi.1_Silent_p.Y63Y	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	180						cytoplasm				central_nervous_system(2)|skin(1)	3						CTCACCGGCCGTAGGCACAGG	0.642													A	131399202	G	A	131399202	2	1	195	1	0	0	0	0	0	0	0	1	17285	1140	40	1		1	WDR34	9	131399202	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	742350	131399202	9814229	873	107977											
SET	6418	broad.mit.edu	37	chr9	131456213	131456213	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaggagaaggagaagaAgatgatgatgatgatgaaga	16	0	0	11	rs145251942	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:131456213A>T	uc004bvt.3	+	7	982	c.741A>T	c.(739-741)GAA>GAT	p.E247D	SET_uc004bvu.3_Missense_Mutation_p.E234D|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.E223D	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	247	Asp/Glu-rich (highly acidic).				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		aaggagaagaagatgatgatg	0.134			T	NUP214	AML								T	131456213	A	T	131456213	3	4	195	1	0	0	0	0	1	0	0	0	14128	69	3	5	844	5	SET	9	131456213	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	57011	131456213	9757218	874	107978											
SH3GLB2	56904	broad.mit.edu	37	chr9	131784632	131784632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcttggtgctgtctgccCgggccagaaggttttcaaag	13	9	3	1	rs138289691		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:131784632C>T	uc004bwv.2	-	2	280	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	SH3GLB2_uc004bww.2_Missense_Mutation_p.R45Q|SH3GLB2_uc004bwx.1_Missense_Mutation_p.R45Q|SH3GLB2_uc011mbm.1_Missense_Mutation_p.R45Q	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	45	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						GCTGTCTGCCCGGGCCAGAAG	0.597													T	131784632	C	T	131784632	3	4	195	1	0	0	0	0	1	0	0	0	14254	652	23	1	1093	1	SH3GLB2	9	131784632	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	328419	131784632	9428799	875	107979											
DOLPP1	57171	broad.mit.edu	37	chr9	131847046	131847046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaagcgggagctgcacaCggtgagtctgtcttgcccac	12	11	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:131847046C>T	uc004bxc.2	+	2	204	c.176C>T	c.(175-177)ACG>ATG	p.T59M	DOLPP1_uc004bxd.2_Missense_Mutation_p.T59M|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	59					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						GAGCTGCACACGGTGAGTCTG	0.612													T	131847046	C	T	131847046	3	4	195	1	0	0	0	0	1	0	0	0	4704	550	19	1	182	1	DOLPP1	9	131847046	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	62414	131847046	9366385	876	107980											
ASB6	140459	broad.mit.edu	37	chr9	132400635	132400635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagaagcggttgatcaTctgggcctcctctttgtccc	11	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:132400635T>C	uc004byf.1	-	6	866	c.700A>G	c.(700-702)ATG>GTG	p.M234V	ASB6_uc004bye.1_Missense_Mutation_p.M159V|ASB6_uc004byg.1_Silent_p.R197R|ASB6_uc011mbt.1_Missense_Mutation_p.M155V|ASB6_uc010myx.1_Missense_Mutation_p.M205V	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	234	ANK 5.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CGGTTGATCATCTGGGCCTCC	0.617													C	132400635	T	C	132400635	3	2	195	1	0	0	0	0	1	0	0	0	1027	1435	50	3	569	3	ASB6	9	132400635	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	553589	132400635	8812796	877	107981											
FIBCD1	84929	broad.mit.edu	37	chr9	133779552	133779552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccgtcggcataggaggCgtgcgcaccgcgcaggtact	15	14	0	0	rs143570837	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:133779552C>T	uc004bzz.2	-	7	1530	c.1285G>A	c.(1285-1287)GCC>ACC	p.A429T	FIBCD1_uc011mcc.1_Missense_Mutation_p.A429T	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	429	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCATAGGAGGCGTGCGCACCG	0.627													T	133779552	C	T	133779552	3	4	195	1	0	0	0	0	1	0	0	0	5884	768	27	1	104	1	FIBCD1	9	133779552	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1378917	133779552	7433879	878	107982											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165480	134165480	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccagccccccaaggggggCccggagccccgcagctcggg	15	18	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:134165480C>G	uc004cal.2	+	1	400	c.96C>G	c.(94-96)GGC>GGG	p.G32G		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	32	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCAAGGGGGGCCCGGAGCCCC	0.706													G	134165480	C	G	134165480	2	3	195	1	0	0	0	0	0	0	0	1	12296	726	26	5		5	PPAPDC3	9	134165480	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	385928	134165480	7047951	879	107983											
TTF1	7270	broad.mit.edu	37	chr9	135251548	135251548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgtctcataaaggtagtcGatgatctctacagaaaagaa	9	7	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:135251548G>A	uc004cbl.2	-	11	2524	c.2472C>T	c.(2470-2472)ATC>ATT	p.I824I	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Silent_p.I309I	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	824					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AAAGGTAGTCGATGATCTCTA	0.408													A	135251548	G	A	135251548	2	1	195	1	0	0	0	0	0	0	0	1	16715	1048	37	1		1	TTF1	9	135251548	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1086068	135251548	5961883	880	107984											
GTF3C4	9329	broad.mit.edu	37	chr9	135553527	135553527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggtctcccatgggttGcgatgctaatggcaggtgcc	14	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:135553527G>A	uc010mzv.2	+	2	779	c.521G>A	c.(520-522)TGC>TAC	p.C174Y	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	174					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCCATGGGTTGCGATGCTAAT	0.532													A	135553527	G	A	135553527	3	1	195	1	0	0	0	0	1	0	0	0	6875	1319	46	2	527	2	GTF3C4	9	135553527	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	301979	135553527	5659904	881	107985											
GTF3C5	9328	broad.mit.edu	37	chr9	135919245	135919245	+	Frame_Shift_Del	DEL	C	C	-													caggagctgccgctctacatCcccccacccatcttctcccg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:135919244_135919244TC>T	uc004ccj.4	+	2	840	c.503_503TC>T	c.(502-504)atcfs	p.I168fs	GTF3C5_uc010mzz.2_Frame_Shift_Del_p.I43fs|GTF3C5_uc004cci.4_Frame_Shift_Del_p.I168fs	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	168						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)		CCGCTCTACATCCCCCCACCC	0.617													-	135919245	C	-	135919245	7	5	195	1	0	1	0	1	0	0	0	0	6876	845	30	0	514	0	GTF3C5	9	135919245	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	365718	135919245	5294186	882	107986											
ADAMTS13	11093	broad.mit.edu	37	chr9	136304557	136304557	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaaccacaggcctctcttCacacacttgggtgagttgac	9	14	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:136304557C>T	uc004cdv.3	+	15	2220	c.1776C>T	c.(1774-1776)TTC>TTT	p.F592F	ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Silent_p.F592F|ADAMTS13_uc004cdu.1_Silent_p.F561F|ADAMTS13_uc004cdw.3_Silent_p.F592F|ADAMTS13_uc004cdx.3_Silent_p.F561F|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Silent_p.F262F|ADAMTS13_uc004cds.1_Silent_p.F117F|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	592	Spacer.				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)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCCTCTCTTCACACACTTGG	0.333													T	136304557	C	T	136304557	2	4	195	1	0	0	0	0	0	0	0	1	258	825	29	4		4	ADAMTS13	9	136304557	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	385312	136304557	4908874	883	107987											
TMEM8C	389827	broad.mit.edu	37	chr9	136389958	136389958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagcttggccaccagCgtccccatgggccaggagga	15	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:136389958C>T	uc011mdk.1	-	1	9	c.9G>A	c.(7-9)ACG>ACA	p.T3T		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	3						integral to membrane					0						TGGCCACCAGCGTCCCCATGG	0.667													T	136389958	C	T	136389958	2	4	195	1	0	0	0	0	0	0	0	1	16213	755	27	1		1	TMEM8C	9	136389958	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	85401	136389958	4823473	884	107988											
SARDH	1757	broad.mit.edu	37	chr9	136577755	136577755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacctgatgtcatagccAtgcatgtccttctccgggcg	9	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:136577755A>G	uc004cep.3	-	10	1448	c.1314T>C	c.(1312-1314)CAT>CAC	p.H438H	SARDH_uc004ceo.2_Silent_p.H438H|SARDH_uc011mdn.1_Silent_p.H438H|SARDH_uc011mdo.1_Silent_p.H270H	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	438					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTCATAGCCATGCATGTCCT	0.617													G	136577755	A	G	136577755	2	3	195	1	0	0	0	0	0	0	0	1	13841	214	8	3		3	SARDH	9	136577755	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	187797	136577755	4635676	885	107989											
COL5A1	1289	broad.mit.edu	37	chr9	137660308	137660308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtgctgacggaccccCggtgagtagccctgcccacc	13	18	0	2	rs138259992		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:137660308C>T	uc004cfe.2	+	25	2667	c.2285C>T	c.(2284-2286)CCG>CTG	p.P762L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	762	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GACGGACCCCCGGTGAGTAGC	0.627													T	137660308	C	T	137660308	3	4	195	1	0	0	0	0	1	0	0	0	3696	666	23	1	2383	1	COL5A1	9	137660308	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1082553	137660308	3553123	886	107990											
NOTCH1	4851	broad.mit.edu	37	chr9	139396543	139396543	+	Splice_Site	DEL	G	G	-													gaagcgttcttcaggggcctGgggggtgaggggtcgagaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:139396542_139396542TG>T	uc004chz.3	-	29	5385	c.5385_splice	c.e29-1	p.K1795_splice		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1795					Notch receptor processing|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	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|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)		TTCAGGGGCCTGGGGGGTGAG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139396543	G	-	139396543	8	5	195	1	0	1	0	1	0	0	1	0	10547	1363	47	0		0	NOTCH1	9	139396543	Splice_Site	DEL	G	TCGA-CG-5728-01A-11D-1600-08	1736235	139396543	1816888	887	107991											
NOTCH1	4851	broad.mit.edu	37	chr9	139407849	139407849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcccactcaccgctgAagccctcccggcaggtgcac	11	19	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:139407849A>G	uc004chz.2	-	14	2348	c.2348T>C	c.(2347-2349)TTC>TCC	p.F783S	NOTCH1_uc004cia.1_Missense_Mutation_p.F13S	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	783	Extracellular (Potential).|EGF-like 20.				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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCACCGCTGAAGCCCTCCCG	0.607			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			G	139407849	A	G	139407849	3	3	195	1	0	0	0	0	1	0	0	0	10547	246	9	3	5403	3	NOTCH1	9	139407849	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	11306	139407849	1805582	888	107992											
C9orf142	286257	broad.mit.edu	37	chr9	139887572	139887573	+	Frame_Shift_Ins	INS	-	-	G													agcatccctgacgctttcagINSgggggccctcggcactggcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:139887571_139887572A>AG	uc004cki.3	+	3	323_324	c.297_298A>AG	c.(295-300)tcagggfs	p.S99fs		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	Homo sapiens chromosome 9 open reading frame 142 (C9orf142), mRNA.	99												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGACGCTTTCAGGGGGGCCCTC	0.658													G	139887573	-	G	139887572	7	5	195	1	0	1	1	0	0	0	0	0	2461	1000	35	0	312	0	C9orf142	9	139887572	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	479723	139887572	1325859	889	107993											
NELF	26012	broad.mit.edu	37	chr9	140344457	140344457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcactttgctcatcaggCggctcagccgcttccagaag	11	13	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr9:140344457C>T	uc004cna.2	-	14	1569	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Missense_Mutation_p.R243H|NELF_uc010nci.2_Missense_Mutation_p.R190H|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.R423H|NELF_uc004cmz.2_Missense_Mutation_p.R444H|NELF_uc004cnc.2_Missense_Mutation_p.R421H|NELF_uc004cnb.2_Missense_Mutation_p.R416H	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	446						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GCTCATCAGGCGGCTCAGCCG	0.622													T	140344457	C	T	140344457	3	4	195	1	0	0	0	0	1	0	0	0	10332	768	27	1	267	1	NELF	9	140344457	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	456885	140344457	868974	890	107994											
TUBB8	347688	broad.mit.edu	37	chr10	93721	93721	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatgtcatacagagcttcgTtatctatgcaaaaggtctca	7	8	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:93721T>A	uc001ifi.2	-	4	611	c.611A>T	c.(610-612)AAC>ATC	p.N204I	TUBB8_uc009xhe.2_Missense_Mutation_p.N167I|TUBB8_uc010pzs.1_Missense_Mutation_p.N132I	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	204					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		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)		CAGAGCTTCGTTATCTATGCA	0.542													A	93721	T	A	93721	3	1	195	1	0	0	0	0	1	0	0	0	16758	1725	60	5	727	5	TUBB8	10	93721	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08		93721	135441026	891	107995											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		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						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	195	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	797218	890939	134643808	892	107996											
ITIH5	80760	broad.mit.edu	37	chr10	7618870	7618870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgatgatctccgagccGttgaagtagttggggaacag	14	7	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:7618870G>A	uc001ijq.2	-	10	1603	c.1524C>T	c.(1522-1524)AAC>AAT	p.N508N	ITIH5_uc001ijp.2_Silent_p.N294N|ITIH5_uc001ijr.1_Silent_p.N508N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	508					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TCTCCGAGCCGTTGAAGTAGT	0.557													A	7618870	G	A	7618870	2	1	195	1	0	0	0	0	0	0	0	1	7907	1136	40	1		1	ITIH5	10	7618870	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6727931	7618870	127915877	893	107997											
CDNF	441549	broad.mit.edu	37	chr10	14867588	14867588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacttaggatctttgtgGctgcgtcttttgtggctcct	10	10	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:14867588G>A	uc001inb.1	-	3	313	c.275C>T	c.(274-276)GCC>GTC	p.A92V	CDNF_uc010qbv.1_Missense_Mutation_p.A92V|CDNF_uc001inc.1_5'UTR	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	92						extracellular region	growth factor activity				0						GATCTTTGTGGCTGCGTCTTT	0.423													A	14867588	G	A	14867588	3	1	195	1	0	0	0	0	1	0	0	0	3168	1203	42	2	296	2	CDNF	10	14867588	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	7248718	14867588	120667159	894	107998											
FAM171A1	221061	broad.mit.edu	37	chr10	15256478	15256478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccagggaattctgacGctcggcgtgaaaacagcaag	15	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:15256478G>A	uc001iob.2	-	8	1116	c.1109C>T	c.(1108-1110)GCG>GTG	p.A370V		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	370	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GAATTCTGACGCTCGGCGTGA	0.572													A	15256478	G	A	15256478	3	1	195	1	0	0	0	0	1	0	0	0	5490	1087	38	1	1567	1	FAM171A1	10	15256478	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	388890	15256478	120278269	895	107999											
PTER	9317	broad.mit.edu	37	chr10	16547037	16547038	+	Frame_Shift_Del	DEL	AG	AG	-													aggactattcttgataagaaAgagctcttggagtttgctca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:16547036_16547037AAG>A	uc001iog.1	+	4	923_924	c.716_717AAG>A	c.(715-717)aaafs	p.K239fs	PTER_uc001ioh.1_Frame_Shift_Del_p.K239fs|PTER_uc001ioi.1_Frame_Shift_Del_p.K239fs|PTER_uc009xjp.1_Intron	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	239					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTTGATAAGAAAGAGCTCTTGG	0.396													-	16547038	AG	-	16547037	7	5	195	1	0	1	0	1	0	0	0	0	12739	69	3	0	727	0	PTER	10	16547037	Frame_Shift_Del	DEL	AG	TCGA-CG-5728-01A-11D-1600-08	1290559	16547037	118987710	896	108000											
MLLT10	8028	broad.mit.edu	37	chr10	21823702	21823702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccgctggtttattgcgaCgggcacggctgcagcgtcgc	14	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:21823702C>T	uc001iqs.2	+	2	477	c.129C>T	c.(127-129)GAC>GAT	p.D43D	MLLT10_uc001iqt.2_Silent_p.D43D|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.D43D|MLLT10_uc001iqr.1_Silent_p.D43D|MLLT10_uc001iqq.1_Silent_p.D43D|MLLT10_uc001iqu.1_Silent_p.D43D|MLLT10_uc009xke.1_RNA|MLLT10_uc001iqw.1_Silent_p.D43D|MLLT10_uc001iqx.1_RNA|MLLT10_uc009xkf.1_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	43	PHD-type 1.				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			lung(1)|skin(1)	2						TTTATTGCGACGGGCACGGCT	0.453			T	MLL|PICALM|CDK6	AL								T	21823702	C	T	21823702	2	4	195	1	0	0	0	0	0	0	0	1	9626	535	19	1		1	MLLT10	10	21823702	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5276665	21823702	113711045	897	108001											
MYO3A	53904	broad.mit.edu	37	chr10	26462760	26462761	+	Frame_Shift_Ins	INS	-	-	A													acagagtgtatcagactccaINSaaaaaaatgaataatgtgta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:26462759_26462760C>CA	uc001isn.2	+	29	3926_3927	c.3566_3567C>CA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1189					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.M1192fs*1(2)		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						TATCAGACTCCAAAAAAAATGA	0.401													A	26462761	-	A	26462760	7	5	195	1	0	1	1	0	0	0	0	0	10076	117	5	0	3677	0	MYO3A	10	26462760	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	4639058	26462760	109071987	898	108002											
ANKRD26	22852	broad.mit.edu	37	chr10	27324556	27324560	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-													attttaaggtcctcaaaacaTttcttttctttttcctggtt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:27324555_27324559ATTTCT>A	uc009xku.1	-	23	2992_2996	c.2820_2824AGAAAT>T	c.(2818-2826)aagaaatgtfs	p.K940fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.K626fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.K939fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	939						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						TCCTCAAAACATTTCTTTTCTTTTT	0.298													-	27324560	TTTCT	-	27324556	7	5	195	1	0	1	0	1	0	0	0	0	654	1490	52	0	2353	0	ANKRD26	10	27324556	Frame_Shift_Del	DEL	TTTCT	TCGA-CG-5728-01A-11D-1600-08	861796	27324556	108210191	899	108003											
MASTL	84930	broad.mit.edu	37	chr10	27459056	27459056	+	Frame_Shift_Del	DEL	A	A	-													gctcttgtgtaaaccttgctAaaaaatgcttctctggggaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:27459055_27459055TA>T	uc001itm.3	+	7	1770	c.1167_1167TA>T	c.(1165-1167)gctfs	p.A389fs	MASTL_uc001itl.3_Frame_Shift_Del_p.A389fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.A389fs|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	389	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	p.C392fs*17(2)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAAACCTTGCTAAAAAATGCT	0.413													-	27459056	A	-	27459056	7	5	195	1	0	1	0	1	0	0	0	0	9328	363	13	0	1198	0	MASTL	10	27459056	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	134500	27459056	108075691	900	108004											
SVIL	6840	broad.mit.edu	37	chr10	29812506	29812506	+	Frame_Shift_Del	DEL	C	C	-													ggaaaattccttcggttcatCcccgaggtgggtgatgggag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:29812505_29812505TC>T	uc001iut.1	-	14	3791	c.3038_3038GA>A	c.(3037-3039)gatfs	p.D1013fs	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Frame_Shift_Del_p.D587fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1013					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)				CTTCGGTTCATCCCCGAGGTG	0.512													-	29812506	C	-	29812506	7	5	195	1	0	1	0	1	0	0	0	0	15418	855	30	0	3703	0	SVIL	10	29812506	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	2353450	29812506	105722241	901	108005											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508154	37508154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcagcttaaagttctgAtagctgagaacacaatgctc	11	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:37508154A>G	uc001iza.1	+	34	3445	c.3346A>G	c.(3346-3348)ATA>GTA	p.I1116V		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1172	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TAAAGTTCTGATAGCTGAGAA	0.368													G	37508154	A	G	37508154	3	3	195	1	0	0	0	0	1	0	0	0	658	333	12	3	3480	3	ANKRD30A	10	37508154	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	7695648	37508154	98026593	902	108006											
BMS1	9790	broad.mit.edu	37	chr10	43287077	43287077	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctctaatgtttagggTgccaagctgttctacctttc	7	10	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:43287077T>G	uc001jaj.2	+	6	997	c.639T>G	c.(637-639)GGT>GGG	p.G213G		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	213					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						ATGTTTAGGGTGCCAAGCTGT	0.333													G	43287077	T	G	43287077	2	3	195	1	0	0	0	0	0	0	0	1	1472	1683	59	5		5	BMS1	10	43287077	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	5778923	43287077	92247670	903	108007											
BMS1	9790	broad.mit.edu	37	chr10	43326431	43326431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagcagaaggaggaggagGagaagctgaagcggcagaag	18	6	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:43326431G>A	uc001jaj.2	+	23	4094	c.3736G>A	c.(3736-3738)GAG>AAG	p.E1246K		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1246					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GGAGGAGGAGGAGAAGCTGAA	0.527													A	43326431	G	A	43326431	3	1	195	1	0	0	0	0	1	0	0	0	1472	1175	41	4	3822	4	BMS1	10	43326431	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	39354	43326431	92208316	904	108008											
GDF2	2658	broad.mit.edu	37	chr10	48414360	48414360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacatcataaatgaccaCgcttcctttcaggtcatgag	7	11	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:48414360C>T	uc001jfa.1	-	2	671	c.508G>A	c.(508-510)GTG>ATG	p.V170M		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	170					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			ovary(2)|skin(1)	3						TAAATGACCACGCTTCCTTTC	0.517													T	48414360	C	T	48414360	3	4	195	1	0	0	0	0	1	0	0	0	6314	536	19	1	785	1	GDF2	10	48414360	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5087929	48414360	87120387	905	108009											
ERCC6	2074	broad.mit.edu	37	chr10	50667115	50667115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcttcctgcaggtgccCgctttcactttctaaacgct	8	13	2	1	rs4253229	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:50667115C>T	uc001jhs.3	-	21	4382	c.4228G>A	c.(4228-4230)GGG>AGG	p.G1410R	ERCC6_uc009xod.2_Missense_Mutation_p.G570R|ERCC6_uc010qgr.1_Missense_Mutation_p.G780R|ERCC6_uc001jhr.3_Missense_Mutation_p.G778R	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1410	Ubiquitin-binding domain (UBD).				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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TGCAGGTGCCCGCTTTCACTT	0.542								Direct_reversal_of_damage|NER					T	50667115	C	T	50667115	3	4	195	1	0	0	0	0	1	0	0	0	5217	652	23	1	257	1	ERCC6	10	50667115	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2252755	50667115	84867632	906	108010											
ERCC6	2074	broad.mit.edu	37	chr10	50682250	50682250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaaagagatcagggtgGttgcaaatttttcttagggc	12	6	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:50682250G>A	uc001jhs.3	-	13	2575	c.2421C>T	c.(2419-2421)AAC>AAT	p.N807N	ERCC6_uc009xod.2_5'UTR|ERCC6_uc010qgr.1_Silent_p.N177N|ERCC6_uc001jhr.3_Silent_p.N175N	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	807					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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GATCAGGGTGGTTGCAAATTT	0.423								Direct_reversal_of_damage|NER					A	50682250	G	A	50682250	2	1	195	1	0	0	0	0	0	0	0	1	5217	1252	44	4		4	ERCC6	10	50682250	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	15135	50682250	84852497	907	108011											
ERCC6	2074	broad.mit.edu	37	chr10	50686478	50686478	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaggtatggatttatggtAtctcgtaagacacatgcaca	10	6	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:50686478A>G	uc001jhs.3	-	11	2362	c.2208T>C	c.(2206-2208)GAT>GAC	p.D736D	ERCC6_uc009xod.2_5'Flank|ERCC6_uc010qgr.1_Silent_p.D106D|ERCC6_uc001jhr.3_Silent_p.D136D	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	736					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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GATTTATGGTATCTCGTAAGA	0.378								Direct_reversal_of_damage|NER					G	50686478	A	G	50686478	2	3	195	1	0	0	0	0	0	0	0	1	5217	446	16	3		3	ERCC6	10	50686478	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	4228	50686478	84848269	908	108012											
CHAT	1103	broad.mit.edu	37	chr10	50863468	50863468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgaaggatgccatcCgtgcccagactgcatacaca	9	14	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:50863468C>T	uc001jhz.2	+	13	1966	c.1813C>T	c.(1813-1815)CGT>TGT	p.R605C	CHAT_uc001jhv.1_Missense_Mutation_p.R487C|CHAT_uc001jhx.1_Missense_Mutation_p.R487C|CHAT_uc001jhy.1_Missense_Mutation_p.R487C|CHAT_uc001jia.2_Missense_Mutation_p.R487C|CHAT_uc010qgs.1_Missense_Mutation_p.R487C	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	605					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGATGCCATCCGTGCCCAGAC	0.577													T	50863468	C	T	50863468	3	4	195	1	0	0	0	0	1	0	0	0	3313	652	23	1	1907	1	CHAT	10	50863468	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	176990	50863468	84671279	909	108013											
DKK1	22943	broad.mit.edu	37	chr10	54074806	54074806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccgaaaacgctgcatgCgtcacgctatgtgctgcccc	11	15	1	0	rs138015066		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:54074806C>T	uc001jjr.2	+	2	521	c.367C>T	c.(367-369)CGT>TGT	p.R123C	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	123	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						ACGCTGCATGCGTCACGCTAT	0.562											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	54074806	C	T	54074806	3	4	195	1	0	0	0	0	1	0	0	0	4544	768	27	1	373	1	DKK1	10	54074806	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3211338	54074806	81459941	910	108014											
ANK3	288	broad.mit.edu	37	chr10	61941099	61941099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtatacctttgtctgggcGtccacatgagccccttggtt	10	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:61941099G>A	uc001jky.2	-	18	2364	c.2172C>T	c.(2170-2172)GAC>GAT	p.D724D	ANK3_uc010qih.1_Silent_p.D707D|ANK3_uc001jkz.3_Silent_p.D718D|ANK3_uc001jlb.1_Silent_p.D253D|ANK3_uc001jlc.1_Silent_p.D385D	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	724	ANK 20.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTGTCTGGGCGTCCACATGAG	0.493													A	61941099	G	A	61941099	2	1	195	1	0	0	0	0	0	0	0	1	622	1136	40	1		1	ANK3	10	61941099	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	7866293	61941099	73593648	911	108015											
HKDC1	80201	broad.mit.edu	37	chr10	71020998	71020998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagggcagatttcagagCgtctccggaccaggggcatc	14	12	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:71020998C>T	uc001jpf.3	+	16	2453	c.2320C>T	c.(2320-2322)CGT>TGT	p.R774C	HKDC1_uc010qje.1_Missense_Mutation_p.R637C|HKDC1_uc009xqb.2_RNA	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	774					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						GATTTCAGAGCGTCTCCGGAC	0.542													T	71020998	C	T	71020998	3	4	195	1	0	0	0	0	1	0	0	0	7193	768	27	1	2382	1	HKDC1	10	71020998	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	9079899	71020998	64513749	912	108016											
HK1	3098	broad.mit.edu	37	chr10	71139778	71139778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccatcttgaaccgcctgCgtgataacaagggcacaccc	10	15	1	2	rs142724189		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:71139778C>T	uc001jpl.3	+	9	1293	c.1192C>T	c.(1192-1194)CGT>TGT	p.R398C	HK1_uc001jpg.3_Missense_Mutation_p.R386C|HK1_uc001jph.3_Missense_Mutation_p.R402C|HK1_uc001jpi.3_Missense_Mutation_p.R402C|HK1_uc001jpj.3_Missense_Mutation_p.R433C|HK1_uc001jpk.3_Missense_Mutation_p.R397C|HK1_uc009xqd.2_Missense_Mutation_p.R276C	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	398	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GAACCGCCTGCGTGATAACAA	0.562													T	71139778	C	T	71139778	3	4	195	1	0	0	0	0	1	0	0	0	7190	768	27	1	1404	1	HK1	10	71139778	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	118780	71139778	64394969	913	108017											
PSAP	5660	broad.mit.edu	37	chr10	73577214	73577214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctagttccacacatggCgtttgcaatgctcgacagcc	8	15	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:73577214C>T	uc001jsm.2	-	14	1663	c.1559G>A	c.(1558-1560)CGC>CAC	p.R520H	PSAP_uc001jsl.2_Missense_Mutation_p.R244H	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	520	Saposin A-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						CCACACATGGCGTTTGCAATG	0.483													T	73577214	C	T	73577214	3	4	195	1	0	0	0	0	1	0	0	0	12643	768	27	1	19	1	PSAP	10	73577214	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2437436	73577214	61957533	914	108018											
CBARA1	10367	broad.mit.edu	37	chr10	74135630	74135630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccacctgctgcatggtcActgaaaaaagaaagaggtgc	12	9	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:74135630A>G	uc001jtb.1	-	12	1320	c.1187T>C	c.(1186-1188)GTG>GCG	p.V396A	CBARA1_uc010qjw.1_Missense_Mutation_p.V196A|CBARA1_uc010qjx.1_Missense_Mutation_p.V196A|CBARA1_uc009xqo.1_RNA	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	394					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1						CTGCATGGTCACTGAAAAAAG	0.463													G	74135630	A	G	74135630	3	3	195	1	0	0	0	0	1	0	0	0	2696	173	6	3	257	3	CBARA1	10	74135630	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	558416	74135630	61399117	915	108019											
USP54	159195	broad.mit.edu	37	chr10	75296060	75296060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtagcatgtcctgctgtAtgactggaactcagcttggg	13	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:75296060A>G	uc001juo.2	-	9	1128	c.1111T>C	c.(1111-1113)TAC>CAC	p.Y371H	USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.Y371H|USP54_uc010qkl.1_Missense_Mutation_p.Y371H|USP54_uc001juq.1_Missense_Mutation_p.Y164H	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	371					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GTCCTGCTGTATGACTGGAAC	0.547													G	75296060	A	G	75296060	3	3	195	1	0	0	0	0	1	0	0	0	17082	449	16	3	3999	3	USP54	10	75296060	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1160430	75296060	60238687	916	108020											
ADK	132	broad.mit.edu	37	chr10	76074474	76074474	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatatcatgctggtggcTctacccagaattcaattaaa	7	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:76074474T>G	uc001jwi.2	+	4	316	c.244T>G	c.(244-246)TCT>GCT	p.S82A	ADK_uc010qlb.1_Missense_Mutation_p.S82A|ADK_uc001jwj.2_Missense_Mutation_p.S65A|ADK_uc010qlc.1_Missense_Mutation_p.S47A	NM_006721	NP_006712	P55263	ADK_HUMAN	adenosine kinase isoform b	82					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			ovary(1)|skin(1)	2	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	TGCTGGTGGCTCTACCCAGAA	0.323													G	76074474	T	G	76074474	3	3	195	1	0	0	0	0	1	0	0	0	320	1551	54	5	276	5	ADK	10	76074474	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	778414	76074474	59460273	917	108021											
ADK	132	broad.mit.edu	37	chr10	76158266	76158266	+	Frame_Shift_Del	DEL	A	A	-													ttgctgctgccaattgttatAaaaaggaaaaacatcttgat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:76158265_76158265TA>T	uc001jwi.3	+	5	577	c.483_483TA>T	c.(481-483)tatfs	p.Y161fs	ADK_uc010qlb.2_Frame_Shift_Del_p.Y161fs|ADK_uc001jwj.3_Frame_Shift_Del_p.Y144fs|ADK_uc010qlc.2_Frame_Shift_Del_p.Y126fs	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	161					purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|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)	CCAATTGTTATAAAAAGGAAA	0.313													-	76158266	A	-	76158266	7	5	195	1	0	1	0	1	0	0	0	0	320	363	13	0	524	0	ADK	10	76158266	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	83792	76158266	59376481	918	108022											
MYST4	23522	broad.mit.edu	37	chr10	76784854	76784854	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagagaggccaatgccaCagctggagcctacctgtgag	13	10	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:76784854C>T	uc001jwn.1	+	17	4004	c.3511C>T	c.(3511-3513)CAG>TAG	p.Q1171*	MYST4_uc001jwo.1_Nonsense_Mutation_p.Q879*|MYST4_uc001jwp.1_Nonsense_Mutation_p.Q988*	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1171					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GCCAATGCCACAGCTGGAGCC	0.488			T	CREBBP	AML								T	76784854	C	T	76784854	4	4	195	1	0	0	0	0	0	1	0	0	10105	479	17	4	3569	4	MYST4	10	76784854	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	626588	76784854	58749893	919	108023											
SAMD8	142891	broad.mit.edu	37	chr10	76910646	76910646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctttcccatgactgtgaCggacccataactgacttgaa	9	11	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:76910646C>T	uc001jwx.1	+	2	463	c.360C>T	c.(358-360)GAC>GAT	p.D120D	SAMD8_uc001jwy.1_Silent_p.D120D	NM_144660	NP_653261	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	120					sphingomyelin biosynthetic process	integral to membrane					0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATGACTGTGACGGACCCATAA	0.453													T	76910646	C	T	76910646	2	4	195	1	0	0	0	0	0	0	0	1	13825	535	19	1		1	SAMD8	10	76910646	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	125792	76910646	58624101	920	108024											
ZMIZ1	57178	broad.mit.edu	37	chr10	81053206	81053206	+	Frame_Shift_Del	DEL	G	G	-													ccgcgggggcctgcctccatGgggggcagcatgaaccccgc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:81053205_81053205TG>T	uc001kaf.2	+	11	1597	c.1025_1025TG>T	c.(1024-1026)atgfs	p.M342fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.M218fs|ZMIZ1_uc001kah.1_Frame_Shift_Del_p.M224fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	342	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)			CCTGCCTCCATGGGGGGCAGC	0.672													-	81053206	G	-	81053206	7	5	195	1	0	1	0	1	0	0	0	0	17693	1348	47	0	1056	0	ZMIZ1	10	81053206	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	4142560	81053206	54481541	921	108025											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717771	+	Frame_Shift_Ins	INS	-	-	A													acaaacagaacaagatgctaINSaaaaaggtttgtactttact					rs121913289		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:89717769_89717770T>TA	uc001kfb.3	+	6	1826_1827	c.794_795T>TA	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.K267fs*9(4)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(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)		AACAAGATGCTAAAAAAGGTTT	0.347		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)			A	89717771	-	A	89717770	7	5	195	1	0	1	1	0	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	8664564	89717770	45816977	922	108026											
ACTA2	59	broad.mit.edu	37	chr10	90699305	90699305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctctgggcagcggaaaCgttcatttccgatggtgatc	14	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:90699305C>T	uc001kfp.2	-	7	883	c.767G>A	c.(766-768)CGT>CAT	p.R256H	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.R211H|ACTA2_uc001kfq.2_Missense_Mutation_p.R256H|uc001kfo.1_RNA	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	256					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCAGCGGAAACGTTCATTTCC	0.517													T	90699305	C	T	90699305	3	4	195	1	0	0	0	0	1	0	0	0	192	536	19	1	378	1	ACTA2	10	90699305	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	981535	90699305	44835442	923	108027											
IFIT2	3433	broad.mit.edu	37	chr10	91066258	91066258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggactggcaatagcaaGctaccgtctggacaactggc	11	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:91066258G>T	uc009xts.2	+	2	720	c.545G>T	c.(544-546)AGC>ATC	p.S182I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	182	TPR 3.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				GCAATAGCAAGCTACCGTCTG	0.502													T	91066258	G	T	91066258	3	4	195	1	0	0	0	0	1	0	0	0	7523	971	34	5	551	5	IFIT2	10	91066258	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	366953	91066258	44468489	924	108028											
KIF20B	9585	broad.mit.edu	37	chr10	91478615	91478615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgtattgaagttctccGccattgcacaaaaagtaaat	6	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:91478615G>A	uc001kgs.1	+	12	1492	c.1420G>A	c.(1420-1422)GCC>ACC	p.A474T	KIF20B_uc001kgr.1_Missense_Mutation_p.A474T	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	474					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			ovary(1)|pancreas(1)|skin(1)	3						GAAGTTCTCCGCCATTGCACA	0.254													A	91478615	G	A	91478615	3	1	195	1	0	0	0	0	1	0	0	0	8287	1087	38	1	1462	1	KIF20B	10	91478615	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	412357	91478615	44056132	925	108029											
ANKRD1	27063	broad.mit.edu	37	chr10	92672639	92672639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcagaatgtagctatgCgagaggtcttgtaggagttc	13	7	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:92672639C>T	uc001khe.1	-	9	1192	c.944G>A	c.(943-945)CGC>CAC	p.R315H		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	315	ANK 5.				cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)				TGTAGCTATGCGAGAGGTCTT	0.468													T	92672639	C	T	92672639	3	4	195	1	0	0	0	0	1	0	0	0	637	768	27	1	19	1	ANKRD1	10	92672639	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1194024	92672639	42862108	926	108030											
HHEX	3087	broad.mit.edu	37	chr10	94452213	94452213	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccaacgaccagaccatCgagctggagaagaaattcga	9	11	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:94452213C>T	uc001kid.2	+	2	513	c.450C>T	c.(448-450)ATC>ATT	p.I150I		NM_002729	NP_002720	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	150	Homeobox.				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			ovary(1)	1						ACCAGACCATCGAGCTGGAGA	0.572													T	94452213	C	T	94452213	2	4	195	1	0	0	0	0	0	0	0	1	7091	874	31	1		1	HHEX	10	94452213	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1779574	94452213	41082534	927	108031											
CYP26A1	1592	broad.mit.edu	37	chr10	94837050	94837051	+	Frame_Shift_Ins	INS	-	-	G													aagattcacccatttccatgINSgggaaatctgatgagcttga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:94837049_94837050T>TG	uc001kil.2	+	6	1527_1528	c.1482_1483T>TG	c.(1480-1485)catgggfs	p.H494fs	CYP26A1_uc001kik.1_Frame_Shift_Ins_p.H425fs	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	494					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)				CCCATTTCCATGGGGAAATCTG	0.406													G	94837051	-	G	94837050	7	5	195	1	0	1	1	0	0	0	0	0	4155	1348	47	0	1509	0	CYP26A1	10	94837050	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	384837	94837050	40697697	928	108032											
MYOF	26509	broad.mit.edu	37	chr10	95111464	95111464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgataactttgggtggAttctgtagaactgtttgggg	13	5	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:95111464A>G	uc001kin.2	-	33	3744	c.3621T>C	c.(3619-3621)AAT>AAC	p.N1207N	MYOF_uc001kio.2_Silent_p.N1194N|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1207	Cytoplasmic (Potential).|C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CTTTGGGTGGATTCTGTAGAA	0.408													G	95111464	A	G	95111464	2	3	195	1	0	0	0	0	0	0	0	1	10089	330	12	3		3	MYOF	10	95111464	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	274414	95111464	40423283	929	108033											
LGI1	9211	broad.mit.edu	37	chr10	95518094	95518094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatccattccacgcaccGttcctcctgatgttatctca	5	16	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:95518094G>A	uc001kjc.3	+	1	529	c.193G>A	c.(193-195)GTT>ATT	p.V65I	LGI1_uc010qnv.1_Missense_Mutation_p.V65I|LGI1_uc001kjd.3_Missense_Mutation_p.V65I|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	65	LRRNT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)				TCCACGCACCGTTCCTCCTGA	0.438													A	95518094	G	A	95518094	3	1	195	1	0	0	0	0	1	0	0	0	8751	1145	40	1	195	1	LGI1	10	95518094	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	406630	95518094	40016653	930	108034											
RRP12	23223	broad.mit.edu	37	chr10	99120328	99120330	+	In_Frame_Del	DEL	CTC	CTC	-													tactgagggggtatctccagCtcctcctcctcagcctcttt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:99120327_99120329GCTC>G	uc001knf.3	-	30	3753_3755	c.3614_3616GAGC>C	c.(3613-3618)gagctg>gCtg	p.1205_1206EL>A	RRP12_uc001kne.3_In_Frame_Del_p.220_221EL>A|RRP12_uc009xvl.3_In_Frame_Del_p.322_323EL>A|RRP12_uc009xvm.3_In_Frame_Del_p.923_924EL>A|RRP12_uc010qou.2_In_Frame_Del_p.1144_1145EL>A|RRP12_uc009xvn.3_In_Frame_Del_p.1105_1106EL>A	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1205						integral to membrane|nuclear membrane|nucleolus	protein binding	p.E1205*(1)		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)		GGTATCTCCAGCTCCTCCTCCTC	0.557													-	99120330	CTC	-	99120328	7	5	195	1	0	1	0	1	0	0	0	0	13686	796	28	0	294	0	RRP12	10	99120328	In_Frame_Del	DEL	CTC	TCGA-CG-5728-01A-11D-1600-08	3602234	99120328	36414419	931	108035											
COX15	1355	broad.mit.edu	37	chr10	101486739	101486739	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttacctggaagcagacgaGgccacagagggcaagaacac	12	11	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:101486739G>T	uc001kqb.3	-	4	1185	c.568C>A	c.(568-570)CTC>ATC	p.L190I	COX15_uc001kqc.3_Missense_Mutation_p.L190I|COX15_uc010qpj.1_Missense_Mutation_p.L11I	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	190	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AAGCAGACGAGGCCACAGAGG	0.458													T	101486739	G	T	101486739	3	4	195	1	0	0	0	0	1	0	0	0	3764	1000	35	5	758	5	COX15	10	101486739	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2366411	101486739	34048008	932	108036											
COX15	1355	broad.mit.edu	37	chr10	101489383	101489383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccatcggcccaccacccGctcagcagcctttgagggaa	11	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:101489383G>A	uc001kqb.3	-	2	816	c.199C>T	c.(199-201)CGG>TGG	p.R67W	COX15_uc001kqc.3_Missense_Mutation_p.R67W|COX15_uc010qpj.1_5'UTR|CUTC_uc010qpk.1_5'Flank|CUTC_uc001kqd.3_5'Flank|CUTC_uc001kqe.3_5'Flank	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	67					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CCCACCACCCGCTCAGCAGCC	0.542													A	101489383	G	A	101489383	3	1	195	1	0	0	0	0	1	0	0	0	3764	1086	38	1	1135	1	COX15	10	101489383	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2644	101489383	34045364	933	108037											
SEC31B	25956	broad.mit.edu	37	chr10	102265160	102265160	+	Frame_Shift_Del	DEL	T	T	-													cttctaatccatttggggggTtttttcaggggaggtatcag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:102265159_102265159GT>G	uc001krc.1	-	9	1240	c.1138_1138AC>C	c.(1138-1140)cccfs	p.P380fs	SEC31B_uc010qpo.1_Frame_Shift_Del_p.P379fs|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	380					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum 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)		CATTTGGGGGGTTTTTTCAGG	0.507													-	102265160	T	-	102265160	7	5	195	1	0	1	0	1	0	0	0	0	13999	1722	60	0	2470	0	SEC31B	10	102265160	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	775777	102265160	33269587	934	108038											
C10orf2	56652	broad.mit.edu	37	chr10	102748985	102748985	+	Frame_Shift_Del	DEL	C	C	-													tgcgaccaggagaccagcaaCcccgtcccctggaggccctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:102748984_102748984AC>A	uc001ksf.2	+	0	1692	c.1017_1017AC>A	c.(1015-1017)caafs	p.Q339fs	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Frame_Shift_Del_p.Q339fs|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	339					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)		GAGACCAGCAACCCCGTCCCC	0.577													-	102748985	C	-	102748985	7	5	195	1	0	1	0	1	0	0	0	0	1597	507	18	0	1020	0	C10orf2	10	102748985	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	483825	102748985	32785762	935	108039											
LBX1	10660	broad.mit.edu	37	chr10	102987152	102987152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcccggggccttcggggCgcctggggggaggaccggag	22	12	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:102987152C>T	uc001ksx.2	-	2	866	c.721G>A	c.(721-723)GCC>ACC	p.A241T	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	241					muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GCCTTCGGGGCGCCTGGGGGG	0.751													T	102987152	C	T	102987152	3	4	195	1	0	0	0	0	1	0	0	0	8653	768	27	1	128	1	LBX1	10	102987152	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	238167	102987152	32547595	936	108040											
NFKB2	4791	broad.mit.edu	37	chr10	104160088	104160088	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgagtgtggtgagctttctGctgcgggtaggtgcagaccc	16	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:104160088G>T	uc001kvb.2	+	16	1903	c.1638G>T	c.(1636-1638)CTG>CTT	p.L546L	NFKB2_uc001kva.2_Silent_p.L546L|NFKB2_uc001kvd.2_Silent_p.L546L|NFKB2_uc009xxc.2_Silent_p.L546L	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	546	ANK 2.				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			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGAGCTTTCTGCTGCGGGTAG	0.657			T	IGH@	B-NHL								T	104160088	G	T	104160088	2	4	195	1	0	0	0	0	0	0	0	1	10376	1306	46	5		5	NFKB2	10	104160088	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1172936	104160088	31374659	937	108041											
CNNM2	54805	broad.mit.edu	37	chr10	104678648	104678648	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcgcgggctggggggCcccgcgccgccagagccgga	22	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:104678648C>G	uc001kwm.2	+	1	535	c.411C>G	c.(409-411)GGC>GGG	p.G137G	CNNM2_uc001kwn.2_Silent_p.G137G|CNNM2_uc001kwl.2_Silent_p.G137G	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	137					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		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)		ggctggggggccccgcgccgc	0.522													G	104678648	C	G	104678648	2	3	195	1	0	0	0	0	0	0	0	1	3613	726	26	5		5	CNNM2	10	104678648	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	518560	104678648	30856099	938	108042											
CALHM1	255022	broad.mit.edu	37	chr10	105215212	105215212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctccctttcctcctccGcaccatcgggggtcgtgggg	12	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:105215212G>A	uc001kxe.2	-	2	988	c.848C>T	c.(847-849)GCG>GTG	p.A283V	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	283						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1						TTCCTCCTCCGCACCATCGGG	0.642													A	105215212	G	A	105215212	3	1	195	1	0	0	0	0	1	0	0	0	2582	1087	38	1	196	1	CALHM1	10	105215212	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	536564	105215212	30319535	939	108043											
COL17A1	1308	broad.mit.edu	37	chr10	105809853	105809853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgacagactgacctgtgaGgcctcgaggtcctttctcac	10	13	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:105809853G>T	uc001kxr.2	-	28	2327	c.2158C>A	c.(2158-2160)CTC>ATC	p.L720I	MIR936_hsa-mir-936|MI0005758_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	720	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		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)		TGACCTGTGAGGCCTCGAGGT	0.463													T	105809853	G	T	105809853	3	4	195	1	0	0	0	0	1	0	0	0	3674	1000	35	5	2451	5	COL17A1	10	105809853	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	594641	105809853	29724894	940	108044											
SORCS1	114815	broad.mit.edu	37	chr10	108923852	108923852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctttgtccgggtcccGctcccgagtcccaggctcct	13	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:108923852G>A	uc001kym.2	-	1	441	c.433C>T	c.(433-435)CGG>TGG	p.R145W	SORCS1_uc001kyl.2_Missense_Mutation_p.R145W|SORCS1_uc009xxs.2_Missense_Mutation_p.R145W|SORCS1_uc001kyn.1_Missense_Mutation_p.R145W|SORCS1_uc001kyo.2_Missense_Mutation_p.R145W	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	145	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCGGGTCCCGCTCCCGAGTC	0.657													A	108923852	G	A	108923852	3	1	195	1	0	0	0	0	1	0	0	0	14930	1086	38	1	3411	1	SORCS1	10	108923852	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3113999	108923852	26610895	941	108045											
ADD3	120	broad.mit.edu	37	chr10	111878421	111878421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccatacaggattcagtcCccatgctgcaatctattcaa	6	12	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:111878421C>A	uc001kyt.3	+	7	958	c.644C>A	c.(643-645)CCC>CAC	p.P215H	ADD3_uc001kys.3_Missense_Mutation_p.P215H|ADD3_uc001kyu.2_Missense_Mutation_p.P215H|ADD3_uc001kyv.2_Missense_Mutation_p.P215H|ADD3_uc001kyw.2_Missense_Mutation_p.P215H	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	215						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		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)		GGATTCAGTCCCCATGCTGCA	0.403													A	111878421	C	A	111878421	3	1	195	1	0	0	0	0	1	0	0	0	306	623	22	5	662	5	ADD3	10	111878421	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2954569	111878421	23656326	942	108046											
SMC3	9126	broad.mit.edu	37	chr10	112338430	112338430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaagcgctggtttttctcGaagcaatccttattatattg	8	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:112338430G>A	uc001kze.2	+	7	521	c.395G>A	c.(394-396)CGA>CAA	p.R132Q		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	132					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGTTTTTCTCGAAGCAATCCT	0.303													A	112338430	G	A	112338430	3	1	195	1	0	0	0	0	1	0	0	0	14784	1058	37	1	421	1	SMC3	10	112338430	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	460009	112338430	23196317	943	108047											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118404543	118404543	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaatcttttcctccacAggtataatttttgtagcagc	6	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:118404543A>G	uc001lcq.2	+	16	1373	c.1350_splice	c.e16-2	p.E450_splice		NM_005396	NP_005387	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			large_intestine(1)	1				all cancers(201;0.015)		TTTCCTCCACAGGTATAATTT	0.438													G	118404543	A	G	118404543	5	3	195	1	0	0	0	0	0	0	1	0	12151	202	7	3	1397	3	PNLIPRP2	10	118404543	Splice_Site	SNP	A	TCGA-CG-5728-01A-11D-1600-08	6066113	118404543	17130204	944	108048											
KIAA1598	57698	broad.mit.edu	37	chr10	118700118	118700118	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttagcttgttttgctcaatGaacatctgcaaaagtttgtt	7	6	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:118700118G>T	uc009xyw.2	-	9	1215	c.717C>A	c.(715-717)TTC>TTA	p.F239L	KIAA1598_uc001lcz.3_Missense_Mutation_p.F239L|KIAA1598_uc010qso.1_Missense_Mutation_p.F179L|KIAA1598_uc010qsp.1_Missense_Mutation_p.F239L|KIAA1598_uc010qsq.1_Missense_Mutation_p.F179L|KIAA1598_uc001lcy.3_Missense_Mutation_p.F209L	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	239	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		TTTGCTCAATGAACATCTGCA	0.368													T	118700118	G	T	118700118	3	4	195	1	0	0	0	0	1	0	0	0	8246	1281	45	5	1214	5	KIAA1598	10	118700118	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	295575	118700118	16834629	945	108049											
VAX1	11023	broad.mit.edu	37	chr10	118896101	118896101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcggtgaaggacgtgCgcgtcctcttaggccggtcc	15	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:118896101C>T	uc009xyx.2	-	2	556	c.311G>A	c.(310-312)CGC>CAC	p.R104H	VAX1_uc001ldb.1_Missense_Mutation_p.R104H	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	104	Homeobox.					nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		GAAGGACGTGCGCGTCCTCTT	0.652													T	118896101	C	T	118896101	3	4	195	1	0	0	0	0	1	0	0	0	17131	768	27	1	841	1	VAX1	10	118896101	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	195983	118896101	16638646	946	108050											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119805326	119805326	+	Frame_Shift_Del	DEL	T	T	-													aaattacataacttactctgTtttccttctttgtttgtcct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:119805325_119805325GT>G	uc001ldj.2	-	0	790	c.350_350AC>C	c.(349-351)acafs	p.T117fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.T117fs|CASC2_uc001ldm.4_5'Flank|CASC2_uc009xzc.3_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xzb.3_5'Flank|CASC2_uc009xza.3_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	117					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)		AACTTACTCTGTTTTCCTTCT	0.363													-	119805326	T	-	119805326	7	5	195	1	0	1	0	1	0	0	0	0	12894	1725	60	0	1209	0	RAB11FIP2	10	119805326	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	909225	119805326	15729421	947	108051											
EIF3A	8661	broad.mit.edu	37	chr10	120796733	120796733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccctctcacggcgacGgtcatccctatccctatcgt	7	17	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:120796733G>A	uc001ldu.2	-	21	3963	c.3817C>T	c.(3817-3819)CGT>TGT	p.R1273C	EIF3A_uc010qsu.1_Missense_Mutation_p.R1239C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1273	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCACGGCGACGGTCATCCCTA	0.542													A	120796733	G	A	120796733	3	1	195	1	0	0	0	0	1	0	0	0	5012	1116	39	1	339	1	EIF3A	10	120796733	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	991407	120796733	14738014	948	108052											
RGS10	6001	broad.mit.edu	37	chr10	121275031	121275031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggttacctggtcctggAgtttctggaacatcagaggg	15	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:121275031A>G	uc001lee.2	-	3	365	c.365T>C	c.(364-366)CTC>CCC	p.L122P	RGS10_uc001lef.2_Missense_Mutation_p.L116P|RGS10_uc001leg.2_Missense_Mutation_p.L130P	NM_002925	NP_002916	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform b	122	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CTGGTCCTGGAGTTTCTGGAA	0.507													G	121275031	A	G	121275031	3	3	195	1	0	0	0	0	1	0	0	0	13293	304	11	3	164	3	RGS10	10	121275031	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	478298	121275031	14259716	949	108053											
C10orf119	79892	broad.mit.edu	37	chr10	121618608	121618608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgtaaaactcagggTcaaacatatcctgaatcatg	6	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:121618608T>C	uc001ler.2	-	3	528	c.230A>G	c.(229-231)GAC>GGC	p.D77G	C10orf119_uc001les.1_5'UTR	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	77					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)		AAACTCAGGGTCAAACATATC	0.333													C	121618608	T	C	121618608	3	2	195	1	0	0	0	0	1	0	0	0	1588	1667	58	3	1754	3	C10orf119	10	121618608	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	343577	121618608	13916139	950	108054											
FGFR2	2263	broad.mit.edu	37	chr10	123279676	123279676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggatgggccggtgaggCgatcgctctggtggagagag	21	6	1	2	rs138769323		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:123279676C>T	uc010qtk.1	-	7	1403	c.756G>A	c.(754-756)TCG>TCA	p.S252S	FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Silent_p.S137S|FGFR2_uc010qti.1_Silent_p.S163S|FGFR2_uc010qtj.1_Silent_p.S252S|FGFR2_uc010qtl.1_Silent_p.S252S|FGFR2_uc010qtm.1_Silent_p.S137S|FGFR2_uc001lfl.3_Silent_p.S252S|FGFR2_uc001lfm.2_Silent_p.S163S|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Silent_p.S271S|FGFR2_uc010qto.1_Silent_p.S156S|FGFR2_uc001lfo.1_Silent_p.S271S|FGFR2_uc010qtp.1_Silent_p.S271S|FGFR2_uc001lfg.3_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	252	Extracellular (Potential).		S -> W (in APRS and PS; common mutation).|S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|SP -> FS (in PS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.S252W(19)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCCGGTGAGGCGATCGCTCTG	0.562		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				T	123279676	C	T	123279676	2	4	195	1	0	0	0	0	0	0	0	1	5866	755	27	1		1	FGFR2	10	123279676	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1661068	123279676	12255071	951	108055											
TACC2	10579	broad.mit.edu	37	chr10	123843197	123843197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtctgtgtggcagcaggCggccagcccgaagggggttt	18	9	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:123843197C>T	uc001lfv.2	+	4	1542	c.1182C>T	c.(1180-1182)GGC>GGT	p.G394G	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.G394G|TACC2_uc010qtv.1_Silent_p.G394G	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	394						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGCAGCAGGCGGCCAGCCCG	0.592													T	123843197	C	T	123843197	2	4	195	1	0	0	0	0	0	0	0	1	15499	755	27	1		1	TACC2	10	123843197	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	563521	123843197	11691550	952	108056											
OAT	4942	broad.mit.edu	37	chr10	126100644	126100644	+	Frame_Shift_Del	DEL	T	T	-													ggttggagggccttggactgTttttttagttgcaacagatg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:126100643_126100643GT>G	uc001lhp.3	-	1	231	c.98_98AC>C	c.(97-99)acafs	p.T33fs	OAT_uc001lhr.3_Intron|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GCCTTGGACTGTTTTTTTAGT	0.428													-	126100644	T	-	126100644	7	5	195	1	0	1	0	1	0	0	0	0	10803	1725	60	0	1258	0	OAT	10	126100644	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	2257447	126100644	9434103	953	108057											
C10orf90	118611	broad.mit.edu	37	chr10	128150089	128150089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggagggctcaggtgTggtggggtcctcactcttct	17	9	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:128150089T>C	uc001ljq.2	-	5	1721	c.1600A>G	c.(1600-1602)ACA>GCA	p.T534A	C10orf90_uc001ljp.2_Missense_Mutation_p.T390A|C10orf90_uc010qum.1_Missense_Mutation_p.T631A|C10orf90_uc001ljo.2_RNA	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	534										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGCTCAGGTGTGGTGGGGTCC	0.542													C	128150089	T	C	128150089	3	2	195	1	0	0	0	0	1	0	0	0	1623	1696	59	3	519	3	C10orf90	10	128150089	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2049445	128150089	7384658	954	108058											
MKI67	4288	broad.mit.edu	37	chr10	129903773	129903773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttgttggagtgtccaTtgattctggtggtggagatt	15	4	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:129903773T>C	uc001lke.2	-	13	6526	c.6331A>G	c.(6331-6333)ATG>GTG	p.M2111V	MKI67_uc001lkf.2_Missense_Mutation_p.M1751V|MKI67_uc009yav.1_Missense_Mutation_p.M1686V|MKI67_uc009yaw.1_Missense_Mutation_p.M1261V	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2111	16 X 122 AA approximate repeats.|10.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				GGAGTGTCCATTGATTCTGGT	0.498													C	129903773	T	C	129903773	3	2	195	1	0	0	0	0	1	0	0	0	9598	1493	52	3	3451	3	MKI67	10	129903773	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1753684	129903773	5630974	955	108059											
MKI67	4288	broad.mit.edu	37	chr10	129904519	129904519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgctgggtctgattgcGgagatttgcagagtattttt	13	6	1	3	rs138689138		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:129904519G>A	uc001lke.2	-	13	5780	c.5585C>T	c.(5584-5586)CCG>CTG	p.P1862L	MKI67_uc001lkf.2_Missense_Mutation_p.P1502L|MKI67_uc009yav.1_Missense_Mutation_p.P1437L|MKI67_uc009yaw.1_Missense_Mutation_p.P1012L	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1862	16 X 122 AA approximate repeats.|8.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				GTCTGATTGCGGAGATTTGCA	0.458													A	129904519	G	A	129904519	3	1	195	1	0	0	0	0	1	0	0	0	9598	1116	39	1	4197	1	MKI67	10	129904519	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	746	129904519	5630228	956	108060											
CYP2E1	1571	broad.mit.edu	37	chr10	135347279	135347279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcacagtgcagagcGcttgtacacaatggacggta	13	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:135347279G>A	uc001lnj.1	+	6	878	c.845G>A	c.(844-846)CGC>CAC	p.R282H	CYP2E1_uc001lnk.1_Missense_Mutation_p.R145H|CYP2E1_uc009ybl.1_Missense_Mutation_p.R83H|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.R83H	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	282					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			central_nervous_system(3)	3		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)	AGTGCAGAGCGCTTGTACACA	0.562									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				A	135347279	G	A	135347279	3	1	195	1	0	0	0	0	1	0	0	0	4170	1087	38	1	867	1	CYP2E1	10	135347279	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5442760	135347279	187468	957	108061											
FRG2B	441581	broad.mit.edu	37	chr10	135438851	135438851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagtggagaatggatctGctgtgcccacacctgggcta	14	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr10:135438851G>T	uc010qvg.1	-	4	642	c.589C>A	c.(589-591)CAG>AAG	p.Q197K		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	197						nucleus					0		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)		GAATGGATCTGCTGTGCCCAC	0.557													T	135438851	G	T	135438851	3	4	195	1	0	0	0	0	1	0	0	0	6047	1328	46	5	250	5	FRG2B	10	135438851	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	91572	135438851	95896	958	108062											
ANO9	338440	broad.mit.edu	37	chr11	429820	429821	+	Splice_Site	INS	-	-	G													gtcaaagaggtgggtgagctINSgggggggtgataggtgggcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:429820_429821insG	uc001lpi.2	-	10	857	c.772_splice	c.e10-1	p.L258_splice	ANO9_uc001lph.2_5'UTR|ANO9_uc010qvv.1_Splice_Site_p.L114_splice	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5							chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						gtgggtgagctgggggggtgat	0.267													G	429821	-	G	429820	8	5	195	1	0	1	1	0	0	0	1	0	704	1594	55	0	1634	0	ANO9	11	429820	Splice_Site	INS	-	TCGA-CG-5728-01A-11D-1600-08		429820	134576696	959	108063											
RNH1	6050	broad.mit.edu	37	chr11	498463	498463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagccacactcaccacagcGactccagctggcagccaggt	9	17	1	0	rs150334174	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:498463G>A	uc001lpk.1	-	6	2358	c.950C>T	c.(949-951)TCG>TTG	p.S317L	RNH1_uc001lpl.1_Missense_Mutation_p.S317L|RNH1_uc001lpm.1_Missense_Mutation_p.S317L|RNH1_uc001lpn.1_Missense_Mutation_p.S317L|RNH1_uc001lpo.1_Missense_Mutation_p.S317L|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S317L|RNH1_uc001lpt.1_Missense_Mutation_p.S74L|RNH1_uc001lpq.1_Missense_Mutation_p.S317L|RNH1_uc001lpr.1_Missense_Mutation_p.S317L|RNH1_uc001lps.1_Missense_Mutation_p.S317L	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	317	LRR 11.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		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)		TCACCACAGCGACTCCAGCTG	0.672													A	498463	G	A	498463	3	1	195	1	0	0	0	0	1	0	0	0	13504	1059	37	1	451	1	RNH1	11	498463	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	68643	498463	134508053	960	108064											
DRD4	1815	broad.mit.edu	37	chr11	640597	640597	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcaaggccctgcgtgcctgCtgctgagccgggcacccccg	14	18	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:640597C>G	uc001lqp.1	+	4	1254	c.1254C>G	c.(1252-1254)TGC>TGG	p.C418W		NM_000797	NP_000788	P21917	DRD4_HUMAN	dopamine receptor D4	466	Cytoplasmic (Potential).				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		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;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	TGCGTGCCTGCTGCTGAGCCG	0.622													G	640597	C	G	640597	3	3	195	1	0	0	0	0	1	0	0	0	4759	805	28	5	1268	5	DRD4	11	640597	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	142134	640597	134365919	961	108065											
MUC2	4583	broad.mit.edu	37	chr11	1075884	1075884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaaggatgacaccatcTacctcacccgccacctggct	6	18	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:1075884T>C	uc001lsx.1	+	2	337	c.310T>C	c.(310-312)TAC>CAC	p.Y104H		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	104	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	TGACACCATCTACCTCACCCG	0.632													C	1075884	T	C	1075884	3	2	195	1	0	0	0	0	1	0	0	0	9975	1522	53	3	316	3	MUC2	11	1075884	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	435287	1075884	133930632	962	108066											
MUC2	4583	broad.mit.edu	37	chr11	1082685	1082685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccgccaagggcgtcaTgctgtggggctggcgggagc	18	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:1082685T>C	uc001lsx.1	+	15	1961	c.1934T>C	c.(1933-1935)ATG>ACG	p.M645T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	645						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	AAGGGCGTCATGCTGTGGGGC	0.657													C	1082685	T	C	1082685	3	2	195	1	0	0	0	0	1	0	0	0	9975	1464	51	3	1992	3	MUC2	11	1082685	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	6801	1082685	133923831	963	108067											
OR51B4	79339	broad.mit.edu	37	chr11	5322905	5322905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaaacaggcagcatggGcaatctccctctggtctagc	13	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:5322905G>A	uc010qza.1	-	1	272	c.272C>T	c.(271-273)GCC>GTC	p.A91V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		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)		GGCAGCATGGGCAATCTCCCT	0.502													A	5322905	G	A	5322905	3	1	195	1	0	0	0	0	1	0	0	0	11090	1203	42	2	663	2	OR51B4	11	5322905	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4240220	5322905	129683611	964	108068											
UBQLN3	50613	broad.mit.edu	37	chr11	5528897	5528897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctgaagattggcttcaCgattcagaaagcccatggac	12	10	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:5528897C>T	uc001may.1	-	2	1978	c.1892G>A	c.(1891-1893)CGT>CAT	p.R631H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	631	UBA.							p.R631G(1)		ovary(3)	3		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)		ATTGGCTTCACGATTCAGAAA	0.527													T	5528897	C	T	5528897	3	4	195	1	0	0	0	0	1	0	0	0	16895	536	19	1	79	1	UBQLN3	11	5528897	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	205992	5528897	129477619	965	108069											
UBQLN3	50613	broad.mit.edu	37	chr11	5529850	5529850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttccttgcctgctaccTgagcctccatgtgtggaagt	10	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:5529850T>C	uc001may.1	-	2	1025	c.939A>G	c.(937-939)TCA>TCG	p.S313S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	313										ovary(3)	3		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)		GCCTGCTACCTGAGCCTCCAT	0.507													C	5529850	T	C	5529850	2	2	195	1	0	0	0	0	0	0	0	1	16895	1567	55	3		3	UBQLN3	11	5529850	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	953	5529850	129476666	966	108070											
CNGA4	1262	broad.mit.edu	37	chr11	6260711	6260711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacctcatcatcctcgtgTgcaggtatggcagcggtgct	11	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:6260711T>G	uc001mco.2	+	2	267	c.160T>G	c.(160-162)TGC>GGC	p.C54G	CNGA4_uc010raa.1_Missense_Mutation_p.C14G|CNGA4_uc001mcn.2_Missense_Mutation_p.C14G	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	54	Helical; Name=H1; (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		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)		CATCCTCGTGTGCAGGTATGG	0.547													G	6260711	T	G	6260711	3	3	195	1	0	0	0	0	1	0	0	0	3599	1696	59	5	166	5	CNGA4	11	6260711	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	730861	6260711	128745805	967	108071											
SMPD1	6609	broad.mit.edu	37	chr11	6412983	6412983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagacccactgtgctgcCgccggggttctggcctgccg	15	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:6412983C>T	uc001mcw.2	+	2	862	c.688C>T	c.(688-690)CGC>TGC	p.R230C	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.R230C|SMPD1_uc009yew.2_Missense_Mutation_p.R229C	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	228			R -> C (in NPDB).|R -> H (in NPDA/NPDB; intermediate form).		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				0		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)	ACTGTGCTGCCGCCGGGGTTC	0.652													T	6412983	C	T	6412983	3	4	195	1	0	0	0	0	1	0	0	0	14804	652	23	1	694	1	SMPD1	11	6412983	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	152272	6412983	128593533	968	108072											
DCHS1	8642	broad.mit.edu	37	chr11	6646598	6646598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagacacggcctccatagCggccaacactgaagggatcc	13	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:6646598C>T	uc001mem.1	-	19	7387	c.6977G>A	c.(6976-6978)CGC>CAC	p.R2326H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2326	Cadherin 22.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCATAGCGGCCAACACT	0.602													T	6646598	C	T	6646598	3	4	195	1	0	0	0	0	1	0	0	0	4287	768	27	1	2931	1	DCHS1	11	6646598	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	233615	6646598	128359918	969	108073											
DCHS1	8642	broad.mit.edu	37	chr11	6648368	6648368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctgggcggggcagacGtaggcgcagaggactggtgg	23	8	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:6648368G>A	uc001mem.1	-	14	6312	c.5902C>T	c.(5902-5904)CGT>TGT	p.R1968C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1968	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGGCAGACGTAGGCGCAGA	0.607													A	6648368	G	A	6648368	3	1	195	1	0	0	0	0	1	0	0	0	4287	1145	40	1	4026	1	DCHS1	11	6648368	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1770	6648368	128358148	970	108074											
STK33	65975	broad.mit.edu	37	chr11	8457623	8457623	+	Frame_Shift_Del	DEL	T	T	-													ttttcaaaatgtagttctccTtttcttattaactcaaaaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:8457622_8457622CT>C	uc001mgi.1	-	8	1931	c.1012_1012AG>G	c.(1012-1014)ggafs	p.G338fs	STK33_uc001mgj.1_Frame_Shift_Del_p.G338fs|STK33_uc001mgk.1_Frame_Shift_Del_p.G338fs|STK33_uc010rbn.1_Frame_Shift_Del_p.G297fs|STK33_uc001mgl.3_Frame_Shift_Del_p.G151fs|STK33_uc009yfp.3_Frame_Shift_Del_p.G60fs	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	338	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)		TGTAGTTCTCCTTTTCTTATT	0.323													-	8457623	T	-	8457623	7	5	195	1	0	1	0	1	0	0	0	0	15299	1606	56	0	549	0	STK33	11	8457623	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	1809255	8457623	126548893	971	108075											
ST5	6764	broad.mit.edu	37	chr11	8739392	8739392	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattttcgtcctgctcttcGgctctttaagtccacatcct	7	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:8739392G>A	uc001mgt.2	-	5	1711	c.1525C>T	c.(1525-1527)CGA>TGA	p.R509*	ST5_uc009yfr.2_Nonsense_Mutation_p.R89*|ST5_uc001mgu.2_Nonsense_Mutation_p.R89*|ST5_uc001mgv.2_Nonsense_Mutation_p.R509*|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Nonsense_Mutation_p.R22*	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	509					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTGCTCTTCGGCTCTTTAAG	0.522													A	8739392	G	A	8739392	4	1	195	1	0	0	0	0	0	1	0	0	15219	1124	39	1	1952	1	ST5	11	8739392	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	281769	8739392	126267124	972	108076											
DENND5A	23258	broad.mit.edu	37	chr11	9202415	9202415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaggggagccagcaaTgttcccattcctcttgtccg	10	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:9202415T>C	uc001mhl.2	-	6	1609	c.1354A>G	c.(1354-1356)ATT>GTT	p.I452V	DENND5A_uc010rbw.1_Missense_Mutation_p.I452V|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	452										liver(1)	1						GAGCCAGCAATGTTCCCATTC	0.527													C	9202415	T	C	9202415	3	2	195	1	0	0	0	0	1	0	0	0	4436	1464	51	3	2581	3	DENND5A	11	9202415	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	463023	9202415	125804101	973	108077											
FAR1	84188	broad.mit.edu	37	chr11	13750163	13750163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatttgctttccaggttgCggaatatacgttatggtttt	10	5	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:13750163C>T	uc001mld.2	+	12	1545	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	464					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						TTCCAGGTTGCGGAATATACG	0.333													T	13750163	C	T	13750163	3	4	195	1	0	0	0	0	1	0	0	0	5674	759	27	1	1432	1	FAR1	11	13750163	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4547748	13750163	121256353	974	108078											
SOX6	55553	broad.mit.edu	37	chr11	16340017	16340017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagtccgagtcatttcCtcaagcttcttctgtttcag	7	11	6	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:16340017C>A	uc001mme.2	-	3	492	c.459G>T	c.(457-459)GAG>GAT	p.E153D	SOX6_uc001mmd.2_Missense_Mutation_p.E143D|SOX6_uc001mmf.2_Missense_Mutation_p.E140D|SOX6_uc001mmg.2_Missense_Mutation_p.E140D|SOX6_uc001mmh.1_RNA|SOX6_uc009ygs.2_RNA|SOX6_uc001mmi.3_Missense_Mutation_p.E140D|SOX6_uc001mmj.2_Missense_Mutation_p.E140D	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	140					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GAGTCATTTCCTCAAGCTTCT	0.448													A	16340017	C	A	16340017	3	1	195	1	0	0	0	0	1	0	0	0	14955	680	24	5	2164	5	SOX6	11	16340017	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2589854	16340017	118666499	975	108079											
ABCC8	6833	broad.mit.edu	37	chr11	17414551	17414551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggtcacttgtctgcaCggacgaaggaggcgaagacg	16	9	2	1	rs143557848		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:17414551C>T	uc001mnc.2	-	39	4859	c.4733G>A	c.(4732-4734)CGT>CAT	p.R1578H		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1578	Cytoplasmic (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTTGTCTGCACGGACGAAGGA	0.552													T	17414551	C	T	17414551	3	4	195	1	0	0	0	0	1	0	0	0	58	536	19	1	16	1	ABCC8	11	17414551	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1074534	17414551	117591965	976	108080											
ABCC8	6833	broad.mit.edu	37	chr11	17418493	17418493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgatgagggcattgacGtgcttcagcaccggcttcag	16	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:17418493G>A	uc001mnc.2	-	33	4215	c.4089C>T	c.(4087-4089)CAC>CAT	p.H1363H		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1363	Cytoplasmic (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGCATTGACGTGCTTCAGCA	0.617													A	17418493	G	A	17418493	2	1	195	1	0	0	0	0	0	0	0	1	58	1136	40	1		1	ABCC8	11	17418493	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3942	17418493	117588023	977	108081											
KCNC1	3746	broad.mit.edu	37	chr11	17794004	17794004	+	Frame_Shift_Del	DEL	A	A	-													ctaagcagaaactaccaaagAaaaaaaagaagcatattccg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:17794003_17794003GA>G	uc009yhc.1	+	1	1417	c.1362_1362GA>G	c.(1360-1362)aagfs	p.K454fs	KCNC1_uc001mnk.4_Frame_Shift_Del_p.K454fs	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	454						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						AACTACCAAAGAAAAAAAAGA	0.502													-	17794004	A	-	17794004	7	5	195	1	0	1	0	1	0	0	0	0	8014	247	9	0	1369	0	KCNC1	11	17794004	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	375511	17794004	117212512	978	108082											
TSG101	7251	broad.mit.edu	37	chr11	18531139	18531139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataggatgccgaaataggaCgagagaagactggaggttca	15	5	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:18531139C>T	uc001mor.2	-	5	557	c.431G>A	c.(430-432)CGT>CAT	p.R144H	TSG101_uc001mos.1_Missense_Mutation_p.R92H|TSG101_uc009yhs.1_RNA	NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	144	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						CGAAATAGGACGAGAGAAGAC	0.398													T	18531139	C	T	18531139	3	4	195	1	0	0	0	0	1	0	0	0	16613	536	19	1	765	1	TSG101	11	18531139	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	737135	18531139	116475377	979	108083											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-													ggccactgacagaccgccccGgggggcccaagccactcact							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:18636366_18636366CG>C	uc001moy.3	-	2	1671	c.1455_1455CG>G	c.(1453-1455)ccgfs	p.P485fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.P485fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	485	Ser-rich.							p.P485P(2)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CAGACCGCCCCGGGGGGCCCA	0.602													-	18636367	G	-	18636367	7	5	195	1	0	1	0	1	0	0	0	0	15125	1116	39	0	619	0	SPTY2D1	11	18636367	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	105228	18636367	116370149	980	108084											
NAV2	89797	broad.mit.edu	37	chr11	20078096	20078096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatgggagaaaagttctGtggacaactttgtcagccgt	11	7	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:20078096G>A	uc010rdm.1	+	21	5282	c.4921G>A	c.(4921-4923)GTG>ATG	p.V1641M	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1641	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GAAAAGTTCTGTGGACAACTT	0.388													A	20078096	G	A	20078096	3	1	195	1	0	0	0	0	1	0	0	0	10184	1392	48	4		4	NAV2	11	20078096	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1441729	20078096	114928420	981	108085											
LGR4	55366	broad.mit.edu	37	chr11	27390022	27390022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtgaagattagccaagCgacatgcttaatcatgctag	10	7	1	2	rs149204548	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:27390022C>T	uc001mrj.3	-	18	2733	c.2248G>A	c.(2248-2250)GCT>ACT	p.A750T	LGR4_uc001mrk.3_Missense_Mutation_p.A726T	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	750	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						ATTAGCCAAGCGACATGCTTA	0.388													T	27390022	C	T	27390022	3	4	195	1	0	0	0	0	1	0	0	0	8756	768	27	1	611	1	LGR4	11	27390022	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	7311926	27390022	107616494	982	108086											
HIPK3	10114	broad.mit.edu	37	chr11	33308272	33308272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcacagcaagctcacgtGcaggcacctcagattggggc	13	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:33308272G>A	uc001mul.1	+	2	582	c.312G>A	c.(310-312)GTG>GTA	p.V104V	HIPK3_uc001mum.1_Silent_p.V104V|HIPK3_uc009yjv.1_Silent_p.V104V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	104					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						AAGCTCACGTGCAGGCACCTC	0.498													A	33308272	G	A	33308272	2	1	195	1	0	0	0	0	0	0	0	1	7118	1306	46	2		2	HIPK3	11	33308272	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5918250	33308272	101698244	983	108087											
LDLRAD3	143458	broad.mit.edu	37	chr11	36057669	36057669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagagccagctgctcccCgggaacaacttcaccaatga	9	14	1	2	rs149080200		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:36057669C>T	uc001mwk.1	+	2	100	c.63C>T	c.(61-63)CCC>CCT	p.P21P	LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	21	Extracellular (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				AGCTGCTCCCCGGGAACAACT	0.592													T	36057669	C	T	36057669	2	4	195	1	0	0	0	0	0	0	0	1	8707	639	23	1		1	LDLRAD3	11	36057669	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2749397	36057669	98948847	984	108088											
COMMD9	29099	broad.mit.edu	37	chr11	36293368	36293368	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcatcactggcctggCtgtcagagcctagaggcagg	12	13	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:36293368C>T	uc009yki.1	-	2		c.204G>A						Q9P000	COMD9_HUMAN	Homo sapiens cDNA FLJ45212 fis, clone BRCAN2018667.											ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				ACTGGCCTGGCTGTCAGAGCC	0.522													T	36293368	C	T	36293368	1	4	195	0	1	0	0	0	0	0	0	0	3723	812	28	2		2	COMMD9	11	36293368	RNA	SNP	C	TCGA-CG-5728-01A-11D-1600-08	235699	36293368	98713148	985	108089											
API5	8539	broad.mit.edu	37	chr11	43364043	43364043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacacgaggaaatcgtagtCggggaagactctactgaata	12	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:43364043C>T	uc010rfh.1	+	14	1731	c.1558C>T	c.(1558-1560)CGG>TGG	p.R520W	API5_uc010rfg.1_Missense_Mutation_p.R509W|API5_uc001mxf.2_3'UTR|API5_uc010rfi.1_3'UTR	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	Error:Variant_position_missing_in_Q9BZZ5_after_alignment					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						AAATCGTAGTCGGGGAAGACT	0.473													T	43364043	C	T	43364043	3	4	195	1	0	0	0	0	1	0	0	0	773	875	31	1	1612	1	API5	11	43364043	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	7070675	43364043	91642473	986	108090											
HSD17B12	51144	broad.mit.edu	37	chr11	43876365	43876365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagtctgcaattaaaaCagtcggcctgcaatcccgaa	9	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:43876365C>A	uc001mxq.3	+	10	1020	c.785C>A	c.(784-786)ACA>AAA	p.T262K		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	262					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						GCAATTAAAACAGTCGGCCTG	0.443													A	43876365	C	A	43876365	3	1	195	1	0	0	0	0	1	0	0	0	7381	478	17	5	823	5	HSD17B12	11	43876365	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	512322	43876365	91130151	987	108091											
ACCS	84680	broad.mit.edu	37	chr11	44102795	44102795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggatgtggccactgccGtggcttccctctgccgctac	11	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:44102795G>A	uc009yks.1	+	12	1180	c.1036G>A	c.(1036-1038)GTG>ATG	p.V346M	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.V346M	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	346							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						GGCCACTGCCGTGGCTTCCCT	0.642													A	44102795	G	A	44102795	3	1	195	1	0	0	0	0	1	0	0	0	133	1145	40	1	1078	1	ACCS	11	44102795	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	226430	44102795	90903721	988	108092											
PEX16	9409	broad.mit.edu	37	chr11	45935754	45935754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggcccaggctgagcActgacggccaaggcgtcaag	13	15	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:45935754A>G	uc001nbu.2	-	8	1007	c.695T>C	c.(694-696)TTG>TCG	p.L232S	PEX16_uc001nbt.2_Missense_Mutation_p.L232S	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	232	Interaction with PEX19.|Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		CAGGCTGAGCACTGACGGCCA	0.652													G	45935754	A	G	45935754	3	3	195	1	0	0	0	0	1	0	0	0	11743	173	6	3	424	3	PEX16	11	45935754	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1832959	45935754	89070762	989	108093											
FNBP4	23360	broad.mit.edu	37	chr11	47746252	47746252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggaacatttgactgaAggagggtccagaatggagta	14	6	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:47746252A>C	uc009ylv.2	-	13	2240	c.2087T>G	c.(2086-2088)CTT>CGT	p.L696R	FNBP4_uc001ngi.2_Missense_Mutation_p.L10R|FNBP4_uc001ngj.2_Missense_Mutation_p.L603R|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	696										ovary(1)	1						ATTTGACTGAAGGAGGGTCCA	0.323													C	47746252	A	C	47746252	3	2	195	1	0	0	0	0	1	0	0	0	5967	72	3	5	986	5	FNBP4	11	47746252	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1810498	47746252	87260264	990	108094											
FOLH1	2346	broad.mit.edu	37	chr11	49190753	49190753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgatattcaccttctaTagatgagtcagcattaatat	5	9	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:49190753T>C	uc001ngy.2	-	12	1627	c.1366A>G	c.(1366-1368)ATA>GTA	p.I456V	FOLH1_uc001ngz.2_Missense_Mutation_p.I456V|FOLH1_uc009yly.2_Missense_Mutation_p.I441V|FOLH1_uc009ylz.2_Missense_Mutation_p.I441V|FOLH1_uc009yma.2_Missense_Mutation_p.I148V	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	456	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCACCTTCTATAGATGAGTCA	0.343													C	49190753	T	C	49190753	3	2	195	1	0	0	0	0	1	0	0	0	5979	1406	49	3	918	3	FOLH1	11	49190753	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1444501	49190753	85815763	991	108095											
OR4C16	219428	broad.mit.edu	37	chr11	55339686	55339686	+	Frame_Shift_Del	DEL	T	T	-													gaagaaaatagtgtttgttaTttttttgcgtctctacttgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:55339685_55339685AT>A	uc010rih.2	+	0	82	c.82_82AT>A	c.(82-84)attfs	p.I28fs		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AGTGTTTGTTATTTTTTTGCG	0.388													-	55339686	T	-	55339686	7	5	195	1	0	1	0	1	0	0	0	0	11049	1493	52	0	85	0	OR4C16	11	55339686	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	6148933	55339686	79666830	992	108096											
OR10AG1	282770	broad.mit.edu	37	chr11	55735845	55735845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtattatgatgccattgCacatcaggatcatcaaatac	7	8	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:55735845C>T	uc010rit.1	-	1	95	c.95G>A	c.(94-96)TGC>TAC	p.C32Y		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					GATGCCATTGCACATCAGGAT	0.328													T	55735845	C	T	55735845	3	4	195	1	0	0	0	0	1	0	0	0	10897	710	25	2	813	2	OR10AG1	11	55735845	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	396159	55735845	79270671	993	108097											
OR8H3	390152	broad.mit.edu	37	chr11	55890069	55890069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttattgacctcagttActcaactgtcgtcacaccta	5	12	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:55890069A>C	uc001nii.1	+	1	221	c.221A>C	c.(220-222)TAC>TCC	p.Y74S		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					GACCTCAGTTACTCAACTGTC	0.448													C	55890069	A	C	55890069	3	2	195	1	0	0	0	0	1	0	0	0	11239	391	14	5	223	5	OR8H3	11	55890069	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	154224	55890069	79116447	994	108098											
OR5J2	282775	broad.mit.edu	37	chr11	55944465	55944465	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcctatgaccgctatgtGgccattgtgagtcccttgct	11	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:55944465G>T	uc010rjb.1	+	1	372	c.372G>T	c.(370-372)GTG>GTT	p.V124V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					ACCGCTATGTGGCCATTGTGA	0.443													T	55944465	G	T	55944465	2	4	195	1	0	0	0	0	0	0	0	1	11165	1335	47	5		5	OR5J2	11	55944465	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	54396	55944465	79062051	995	108099											
SSRP1	6749	broad.mit.edu	37	chr11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-													ctggggggagtactggctagTtcttcttcttcagagtcctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:57093934_57093936GTTC>G	uc001njt.3	-	16	2342_2344	c.2075_2077GAAC>C	c.(2074-2079)gaacta>gCta	p.692_693EL>A	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	692	Ser-rich.				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						GTACTGGCTAGTTCTTCTTCTTC	0.552													-	57093937	TTC	-	57093935	7	5	195	1	0	1	0	1	0	0	0	0	15193	1722	60	0	57	0	SSRP1	11	57093935	In_Frame_Del	DEL	TTC	TCGA-CG-5728-01A-11D-1600-08	1149470	57093935	77912581	996	108100											
P2RX3	5024	broad.mit.edu	37	chr11	57115716	57115716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagggctggtgccccaCggaggtggacacagtggaaa	16	10	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:57115716C>T	uc001nju.2	+	5	540	c.464C>T	c.(463-465)ACG>ATG	p.T155M		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	155	Extracellular (Potential).				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				0						TGGTGCCCCACGGAGGTGGAC	0.627													T	57115716	C	T	57115716	3	4	195	1	0	0	0	0	1	0	0	0	11341	536	19	1	482	1	P2RX3	11	57115716	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	21781	57115716	77890800	997	108101											
OR10W1	81341	broad.mit.edu	37	chr11	58035201	58035201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggatgtgcatagacaggTttctgtgtgaatggacacca	12	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:58035201T>C	uc001nmq.1	-	1	532	c.130A>G	c.(130-132)ACC>GCC	p.T44A		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	44	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				CATAGACAGGTTTCTGTGTGA	0.488													C	58035201	T	C	58035201	3	2	195	1	0	0	0	0	1	0	0	0	10921	1725	60	3	791	3	OR10W1	11	58035201	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	919485	58035201	76971315	998	108102											
TMEM132A	54972	broad.mit.edu	37	chr11	60704345	60704345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaccctgaggagcttcGcaactacatggagaggatcc	13	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:60704345G>A	uc001nqj.2	+	11	3231	c.3038G>A	c.(3037-3039)CGC>CAC	p.R1013H	TMEM132A_uc001nqi.2_Missense_Mutation_p.R1014H|TMEM132A_uc001nqm.2_Missense_Mutation_p.R223H	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	1013	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GAGGAGCTTCGCAACTACATG	0.647													A	60704345	G	A	60704345	3	1	195	1	0	0	0	0	1	0	0	0	16042	1087	38	1	3083	1	TMEM132A	11	60704345	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2669144	60704345	74302171	999	108103											
C11orf66	220004	broad.mit.edu	37	chr11	61257273	61257273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtactttgagaacatccccAagggtctagaccaggaaggc	12	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:61257273A>G	uc001nru.1	+	12	1188	c.1063A>G	c.(1063-1065)AAG>GAG	p.K355E	C11orf66_uc009ynq.1_Missense_Mutation_p.K335E	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	355										ovary(1)	1						GAACATCCCCAAGGGTCTAGA	0.637													G	61257273	A	G	61257273	3	3	195	1	0	0	0	0	1	0	0	0	1656	131	5	3	1105	3	C11orf66	11	61257273	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	552928	61257273	73749243	1000	108104											
DAGLA	747	broad.mit.edu	37	chr11	61504660	61504660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggtctccagggccgcGgaaccaaacactacggcctg	11	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:61504660G>A	uc001nsa.2	+	14	1489	c.1378G>A	c.(1378-1380)GGA>AGA	p.G460R		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	460	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CCAGGGCCGCGGAACCAAACA	0.632													A	61504660	G	A	61504660	3	1	195	1	0	0	0	0	1	0	0	0	4226	1117	39	1	1428	1	DAGLA	11	61504660	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	247387	61504660	73501856	1001	108105											
FEN1	2237	broad.mit.edu	37	chr11	61563431	61563431	+	Frame_Shift_Del	DEL	A	A	-													acctgactgccagtgaagccAaaaagctgccaatccaggaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:61563430_61563430CA>C	uc021qkj.1	+	0	597	c.597_597CA>C	c.(595-597)gccfs	p.A199fs	FEN1_uc001nsg.3_Frame_Shift_Del_p.A199fs	NM_004111	NP_004102	P39748	FEN1_HUMAN	Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA.	199	I-domain.				DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	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						CCAGTGAAGCCAAAAAGCTGC	0.567								Editing and processing nucleases					-	61563431	A	-	61563431	7	5	195	1	0	1	0	1	0	0	0	0	5812	131	5	0	600	0	FEN1	11	61563431	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	58771	61563431	73443085	1002	108106											
AHNAK	79026	broad.mit.edu	37	chr11	62287437	62287437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcacatctggaatatcaaCgtccaccttgggtcccgaga	8	12	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:62287437C>T	uc001ntl.2	-	5	14752	c.14452G>A	c.(14452-14454)GTT>ATT	p.V4818I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4818					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGAATATCAACGTCCACCTTG	0.493													T	62287437	C	T	62287437	3	4	195	1	0	0	0	0	1	0	0	0	414	536	19	1	3340	1	AHNAK	11	62287437	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	724006	62287437	72719079	1003	108107											
METTL12	751071	broad.mit.edu	37	chr11	62434112	62434112	+	Frame_Shift_Del	DEL	G	G	-													ccacacccagtggatgtgctGggggtggacttttctcctgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:62434111_62434111TG>T	uc001nug.1	+	2	570	c.311_311TG>T	c.(310-312)ctgfs	p.L104fs	C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_Frame_Shift_Del_p.W146fs|METTL12_uc010rmc.1_Non-coding_Transcript	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA.	104						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GTGGATGTGCTGGGGGTGGAC	0.602													-	62434112	G	-	62434112	7	5	195	1	0	1	0	1	0	0	0	0	9496	1335	47	0	318	0	METTL12	11	62434112	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	146675	62434112	72572404	1004	108108											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455710	62455710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcggccgcaatgcgcaCttctcccatgcgcggcgggt	12	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:62455710C>A	uc001nun.2	-	2	578	c.271G>T	c.(271-273)GTG>TTG	p.V91L		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	91	Fibronectin type-III.|Extracellular (Potential).					integral to membrane					0						GCAATGCGCACTTCTCCCATG	0.721													A	62455710	C	A	62455710	3	1	195	1	0	0	0	0	1	0	0	0	9038	565	20	5	449	5	LRRN4CL	11	62455710	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	21598	62455710	72550806	1005	108109											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62483058	62483058	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatagtctcccctgtatcGatcatagaaattacggtaac	6	10	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:62483058G>A	uc001nuw.2	-	13	2270	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	693	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding				0						CCCCTGTATCGATCATAGAAA	0.418													A	62483058	G	A	62483058	4	1	195	1	0	0	0	0	0	1	0	0	7275	1066	37	1	174	1	HNRNPUL2	11	62483058	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	27348	62483058	72523458	1006	108110											
SLC22A6	9356	broad.mit.edu	37	chr11	62744711	62744711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccagggtctctggcaGgaggacagtgacagcgctgg	17	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:62744711G>A	uc001nwk.2	-	9	1817	c.1510C>T	c.(1510-1512)CTG>TTG	p.L504L	SLC22A6_uc001nwl.2_Silent_p.L460L|SLC22A6_uc001nwj.2_Silent_p.L504L|SLC22A6_uc001nwm.2_Silent_p.L460L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	504	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						GTCTCTGGCAGGAGGACAGTG	0.542													A	62744711	G	A	62744711	2	1	195	1	0	0	0	0	0	0	0	1	14458	991	35	4		4	SLC22A6	11	62744711	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	261653	62744711	72261805	1007	108111											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	195	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	675339	63420050	71586466	1008	108112											
MARK2	2011	broad.mit.edu	37	chr11	63666286	63666286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgaaagaaaaagaggCtcgagccaaattccgccagg	12	9	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:63666286C>T	uc001nxw.2	+	6	1034	c.455C>T	c.(454-456)GCT>GTT	p.A152V	MARK2_uc001nxx.2_Missense_Mutation_p.A152V|MARK2_uc001nxy.2_Missense_Mutation_p.A152V|MARK2_uc001nxv.3_Missense_Mutation_p.A152V|MARK2_uc001nxz.3_Missense_Mutation_p.A119V|MARK2_uc009yoy.2_Missense_Mutation_p.A119V	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	152	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			stomach(1)|ovary(1)|lung(1)	3						GAAAAAGAGGCTCGAGCCAAA	0.517													T	63666286	C	T	63666286	3	4	195	1	0	0	0	0	1	0	0	0	9313	797	28	2	477	2	MARK2	11	63666286	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	246236	63666286	71340230	1009	108113											
MARK2	2011	broad.mit.edu	37	chr11	63669730	63669730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatctgaccaatagcagcGccccatccccatcccacaag	6	18	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:63669730G>A	uc001nxw.2	+	12	1741	c.1162G>A	c.(1162-1164)GCC>ACC	p.A388T	MARK2_uc001nxx.2_Missense_Mutation_p.A388T|MARK2_uc001nxy.2_Missense_Mutation_p.A388T|MARK2_uc001nxv.3_Missense_Mutation_p.A388T|MARK2_uc001nxz.3_Missense_Mutation_p.A355T|MARK2_uc009yoy.2_Missense_Mutation_p.A355T	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	388					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			stomach(1)|ovary(1)|lung(1)	3						CAATAGCAGCGCCCCATCCCC	0.572											OREG0021038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	63669730	G	A	63669730	3	1	195	1	0	0	0	0	1	0	0	0	9313	1087	38	1	1208	1	MARK2	11	63669730	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3444	63669730	71336786	1010	108114											
MACROD1	28992	broad.mit.edu	37	chr11	63782731	63782731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtccactcaccgccaccGcctccgagcagggagctgtt	11	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:63782731G>A	uc001nyh.2	-	4	659	c.540C>T	c.(538-540)GGC>GGT	p.G180G		NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	180	Macro.										0						CACCGCCACCGCCTCCGAGCA	0.657													A	63782731	G	A	63782731	2	1	195	1	0	0	0	0	0	0	0	1	9145	1074	38	1		1	MACROD1	11	63782731	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	113001	63782731	71223785	1011	108115											
GPR137	56834	broad.mit.edu	37	chr11	64054328	64054328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagttcttcaccttgaCgcttatgaacctctactttg	6	13	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:64054328C>T	uc001nzg.1	+	2	640	c.332C>T	c.(331-333)ACG>ATG	p.T111M	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.T117M|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.T169M|GPR137_uc001nze.1_Missense_Mutation_p.T111M|GPR137_uc001nzf.2_Missense_Mutation_p.T111M|GPR137_uc001nzh.1_Missense_Mutation_p.T111M|GPR137_uc001nzi.2_Missense_Mutation_p.T111M|GPR137_uc010rnj.1_Missense_Mutation_p.T111M	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	111	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						TTCACCTTGACGCTTATGAAC	0.607													T	64054328	C	T	64054328	3	4	195	1	0	0	0	0	1	0	0	0	6645	536	19	1	516	1	GPR137	11	64054328	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	271597	64054328	70952188	1012	108116											
CDC42BPG	55561	broad.mit.edu	37	chr11	64604405	64604405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagtaccttggtgcttcCtgctcagctccaccttctcc	6	18	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:64604405C>A	uc001obs.3	-	10	1292	c.1292G>T	c.(1291-1293)AGG>ATG	p.R431M		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	431	Potential.				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			lung(3)|central_nervous_system(1)	4						TTGGTGCTTCCTGCTCAGCTC	0.652													A	64604405	C	A	64604405	3	1	195	1	0	0	0	0	1	0	0	0	3074	681	24	5	3475	5	CDC42BPG	11	64604405	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	550077	64604405	70402111	1013	108117											
ATG2A	23130	broad.mit.edu	37	chr11	64677365	64677365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagagagccgaaataccGtctgctgctccatcgccggc	12	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:64677365G>A	uc001obx.2	-	14	2010	c.1895C>T	c.(1894-1896)ACG>ATG	p.T632M		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	632							protein binding			ovary(1)|central_nervous_system(1)	2						CCGAAATACCGTCTGCTGCTC	0.711													A	64677365	G	A	64677365	3	1	195	1	0	0	0	0	1	0	0	0	1093	1145	40	1	4033	1	ATG2A	11	64677365	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	72960	64677365	70329151	1014	108118											
GPHA2	170589	broad.mit.edu	37	chr11	64702507	64702509	+	In_Frame_Del	DEL	TGT	TGT	-													gcactgagagacggaggtgaTgttgtgtcggtaaccactgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:64702506_64702508ATGT>A	uc001oca.3	-	2	298_300	c.243_245ACAT>T	c.(241-246)aacatc>aaTc	p.I82del		NM_130769	NP_570125	Q96T91	GPHA2_HUMAN	Homo sapiens glycoprotein hormone alpha 2 (GPHA2), mRNA.	82						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GACGGAGGTGATGTTGTGTCGGT	0.645													-	64702509	TGT	-	64702507	7	5	195	1	0	1	0	1	0	0	0	0	6608	1464	51	0	153	0	GPHA2	11	64702507	In_Frame_Del	DEL	TGT	TCGA-CG-5728-01A-11D-1600-08	25142	64702507	70304009	1015	108119											
NAALADL1	10004	broad.mit.edu	37	chr11	64825848	64825848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggcatccagctgccccAtgacggtctccaggatctcc	11	15	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:64825848A>G	uc001ocn.2	-	1	162	c.146T>C	c.(145-147)ATG>ACG	p.M49T	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	49	Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						CAGCTGCCCCATGACGGTCTC	0.632													G	64825848	A	G	64825848	3	3	195	1	0	0	0	0	1	0	0	0	10129	217	8	3	2148	3	NAALADL1	11	64825848	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	123341	64825848	70180668	1016	108120											
TIGD3	220359	broad.mit.edu	37	chr11	65123714	65123714	+	Frame_Shift_Del	DEL	C	C	-													catgttcttgcgccttcattCccccctgagccacctccccc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:65123713_65123713TC>T	uc021qlj.1	+	0	434	c.434_434TC>T	c.(433-435)ttcfs	p.F145fs	TIGD3_uc001odo.4_Frame_Shift_Del_p.F145fs	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	145					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCGCCTTCATTCCCCCCTGAG	0.607													-	65123714	C	-	65123714	7	5	195	1	0	1	0	1	0	0	0	0	15894	854	30	0	437	0	TIGD3	11	65123714	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	297866	65123714	69882802	1017	108121											
KCNK7	10089	broad.mit.edu	37	chr11	65360486	65360486	+	Frame_Shift_Del	DEL	G	G	-													acctgacgcttcagcaagcaGgggcttgtcctgaagctggg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:65360485_65360485AG>A	uc001oes.3	-	2	1139	c.915_915CT>T	c.(913-915)cctfs	p.P305fs	KCNK7_uc001oeq.3_3'UTR|KCNK7_uc001oer.3_3'UTR|KCNK7_uc001oeu.3_3'UTR	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	Homo sapiens potassium channel, subfamily K, member 7 (KCNK7), transcript variant A, mRNA.	305						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						TTCAGCAAGCAGGGGCTTGTC	0.632													-	65360486	G	-	65360486	7	5	195	1	0	1	0	1	0	0	0	0	8071	1000	35	0	13	0	KCNK7	11	65360486	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	236772	65360486	69646030	1018	108122											
CD248	57124	broad.mit.edu	37	chr11	66083272	66083272	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgggaagctcggtctataGgccagggcaaagtcaggcgg	16	9	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:66083272G>T	uc001ohm.1	-	1	1244	c.1227C>A	c.(1225-1227)GCC>GCA	p.A409A		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	409	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TCGGTCTATAGGCCAGGGCAA	0.637													T	66083272	G	T	66083272	2	4	195	1	0	0	0	0	0	0	0	1	2989	987	35	5		5	CD248	11	66083272	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	722786	66083272	68923244	1019	108123											
PELI3	246330	broad.mit.edu	37	chr11	66238785	66238785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgagccgccggtcgcaCgccaacggggtgaagccaga	15	14	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:66238785C>T	uc001oic.3	+	4	461	c.297C>T	c.(295-297)CAC>CAT	p.H99H	PELI3_uc001oib.2_Silent_p.H99H|PELI3_uc001oid.3_Silent_p.H75H|PELI3_uc001oie.3_Translation_Start_Site|PELI3_uc010rpd.1_5'Flank	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	99						cytosol	protein binding			ovary(1)	1						GCCGGTCGCACGCCAACGGGG	0.632													T	66238785	C	T	66238785	2	4	195	1	0	0	0	0	0	0	0	1	11723	535	19	1		1	PELI3	11	66238785	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	155513	66238785	68767731	1020	108124											
CCS	9973	broad.mit.edu	37	chr11	66373260	66373260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggcctcaccatctgggaGgagcgaggccggcccatcgc	15	14	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:66373260G>T	uc001oir.2	+	8	802	c.759G>T	c.(757-759)GAG>GAT	p.E253D	CCS_uc001ois.2_RNA	NM_005125	NP_005116	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	253					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				0						CCATCTGGGAGGAGCGAGGCC	0.622													T	66373260	G	T	66373260	3	4	195	1	0	0	0	0	1	0	0	0	2952	991	35	5	789	5	CCS	11	66373260	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	134475	66373260	68633256	1021	108125											
ANKRD13D	338692	broad.mit.edu	37	chr11	67069033	67069033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgtgctgggcatggagCgcaacgagcccctccgggac	15	14	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:67069033C>T	uc001okc.1	+	14	1673	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C	ANKRD13D_uc001okd.1_Missense_Mutation_p.R475C|ANKRD13D_uc001oke.1_Missense_Mutation_p.R388C|ANKRD13D_uc001okg.1_Missense_Mutation_p.R171C|ANKRD13D_uc001okh.1_Missense_Mutation_p.R171C|ANKRD13D_uc001oki.1_Missense_Mutation_p.R125C|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	388										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGCATGGAGCGCAACGAGCC	0.662													T	67069033	C	T	67069033	3	4	195	1	0	0	0	0	1	0	0	0	644	768	27	1	1473	1	ANKRD13D	11	67069033	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	695773	67069033	67937483	1022	108126											
SSH3	54961	broad.mit.edu	37	chr11	67075730	67075730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgctgctgctggtggCacagcgggaccgagcctccc	14	15	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:67075730C>T	uc001okj.2	+	9	1149	c.971C>T	c.(970-972)GCA>GTA	p.A324V	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.A178V	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	324					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			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGCTGGTGGCACAGCGGGAC	0.682													T	67075730	C	T	67075730	3	4	195	1	0	0	0	0	1	0	0	0	15185	710	25	2	1005	2	SSH3	11	67075730	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6697	67075730	67930786	1023	108127											
PITPNM1	9600	broad.mit.edu	37	chr11	67267200	67267200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtatctttacctggcgTtccctctgcctccactgggg	12	14	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:67267200T>C	uc001olx.2	-	7	1354	c.1165A>G	c.(1165-1167)ACG>GCG	p.T389A	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.T389A|PITPNM1_uc001olz.2_Missense_Mutation_p.T389A	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	389				T->A: No detectable effect on phosphorylation; when associated with A- 793 and A-1222. Strongly reduced phosphorylation; when associated with A- 287. Loss of threonine phosphorylation; when associated with A-287; A-794 and A- 1222.	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	p.T389M(1)		lung(2)|central_nervous_system(1)	3						TTACCTGGCGTTCCCTCTGCC	0.542													C	67267200	T	C	67267200	3	2	195	1	0	0	0	0	1	0	0	0	11950	1725	60	3	2637	3	PITPNM1	11	67267200	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	191470	67267200	67739316	1024	108128											
PITPNM1	9600	broad.mit.edu	37	chr11	67267649	67267649	+	Frame_Shift_Del	DEL	G	G	-													cgggggaggcatctgggcctGggggggcctcaggcccatcg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:67267648_67267648TG>T	uc001olx.3	-	4	1074	c.885_885CA>A	c.(883-885)ccafs	p.P295fs	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Del_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Del_p.P295fs	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	295					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum 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						CATCTGGGCCTGGGGGGGCCT	0.692													-	67267649	G	-	67267649	7	5	195	1	0	1	0	1	0	0	0	0	11950	1348	47	0	2926	0	PITPNM1	11	67267649	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	449	67267649	67738867	1025	108129											
LRP5	4041	broad.mit.edu	37	chr11	68133093	68133093	+	Frame_Shift_Del	DEL	C	C	-													ctcccacctgtgcctgctgtCcccaagcgagcctttctaca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:68133092_68133092TC>T	uc001ont.3	+	4	1012	c.937_937TC>T	c.(937-939)tccfs	p.S313fs	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	313	EGF-like 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|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	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						GTGCCTGCTGTCCCCAAGCGA	0.622													-	68133093	C	-	68133093	7	5	195	1	0	1	0	1	0	0	0	0	8960	855	30	0	956	0	LRP5	11	68133093	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	865444	68133093	66873423	1026	108130											
MTL5	9633	broad.mit.edu	37	chr11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-													gctccccgccgtcgctgtcgCcccccgcgagcttcgccttg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:68517872delC	uc001ooc.2	-	2	397	c.257delG	c.(256-258)GGCfs	p.G86fs	MTL5_uc001ood.1_Frame_Shift_Del_p.G86fs|MTL5_uc009ysi.1_Frame_Shift_Del_p.G86fs|MTL5_uc001ooe.2_Frame_Shift_Del_p.G86fs	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	86					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751													-	68517872	C	-	68517872	7	5	195	1	0	1	0	1	0	0	0	0	9936	739	26	0	1309	0	MTL5	11	68517872	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	384779	68517872	66488644	1027	108131											
TPCN2	219931	broad.mit.edu	37	chr11	68840103	68840103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccctgcagagttggggTgaagccccagaacttgctgc	12	11	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:68840103T>C	uc001oos.2	+	12	1186	c.1070T>C	c.(1069-1071)GTG>GCG	p.V357A	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.V272A|TPCN2_uc010rqg.1_Missense_Mutation_p.V357A|TPCN2_uc001oot.2_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	357	Cytoplasmic (Potential).				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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAGTTGGGGTGAAGCCCCAG	0.637													C	68840103	T	C	68840103	3	2	195	1	0	0	0	0	1	0	0	0	16393	1696	59	3	1116	3	TPCN2	11	68840103	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	322231	68840103	66166413	1028	108132											
ORAOV1	220064	broad.mit.edu	37	chr11	69488006	69488006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacccgattttggctccaTgcagcgtgccatgctgcctt	10	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:69488006T>C	uc001opc.2	-	2	292	c.134A>G	c.(133-135)CAT>CGT	p.H45R	ORAOV1_uc010rqi.1_Missense_Mutation_p.H45R|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.H45R	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	45											0	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)			TTTGGCTCCATGCAGCGTGCC	0.468													C	69488006	T	C	69488006	3	2	195	1	0	0	0	0	1	0	0	0	11260	1464	51	3	295	3	ORAOV1	11	69488006	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	647903	69488006	65518510	1029	108133											
SHANK2	22941	broad.mit.edu	37	chr11	70333142	70333142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttctcacggtcgcggaCggctccggcgatggcggcgg	17	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:70333142C>T	uc001oqc.2	-	21	3334	c.3256G>A	c.(3256-3258)GTC>ATC	p.V1086I	SHANK2_uc010rqn.1_Missense_Mutation_p.V498I|SHANK2_uc001opz.2_Missense_Mutation_p.V491I|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	707					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGTCGCGGACGGCTCCGGCG	0.711													T	70333142	C	T	70333142	3	4	195	1	0	0	0	0	1	0	0	0	14265	536	19	1	2301	1	SHANK2	11	70333142	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	845136	70333142	64673374	1030	108134											
SERPINH1	871	broad.mit.edu	37	chr11	75282937	75282937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgttccacgccaccGcctttgagttggacacagat	10	14	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:75282937G>A	uc001owr.2	+	5	1295	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T	SERPINH1_uc009yug.2_Missense_Mutation_p.A356T|SERPINH1_uc001ows.2_Missense_Mutation_p.A356T|SERPINH1_uc001owt.2_Missense_Mutation_p.A139T	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	356					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					CCACGCCACCGCCTTTGAGTT	0.602													A	75282937	G	A	75282937	3	1	195	1	0	0	0	0	1	0	0	0	14117	1087	38	1	1080	1	SERPINH1	11	75282937	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4949795	75282937	59723579	1031	108135											
MAP6	4135	broad.mit.edu	37	chr11	75298694	75298694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgctgggactatgggacCttcacccttgacaggtgctg	14	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:75298694C>A	uc001owu.2	-	4	1917	c.1852G>T	c.(1852-1854)GGT>TGT	p.G618C		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	618	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					ACTATGGGACCTTCACCCTTG	0.537													A	75298694	C	A	75298694	3	1	195	1	0	0	0	0	1	0	0	0	9264	681	24	5	593	5	MAP6	11	75298694	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	15757	75298694	59707822	1032	108136											
ODZ4	26011	broad.mit.edu	37	chr11	78440583	78440583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgaaggggatggtcgGgtgggtgaggctgatcctca	20	5	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:78440583G>A	uc001ozl.3	-	22	3707	c.3244C>T	c.(3244-3246)CCG>TCG	p.P1082S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1082	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GGGATGGTCGGGTGGGTGAGG	0.582													A	78440583	G	A	78440583	3	1	195	1	0	0	0	0	1	0	0	0	10837	1232	43	4	5117	4	ODZ4	11	78440583	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3141889	78440583	56565933	1033	108137											
RAB38	23682	broad.mit.edu	37	chr11	87883091	87883091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccatagcttctcggtaatAgaccctcgtcatgtttccaa	6	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:87883091A>G	uc001pcj.1	-	2	282	c.235T>C	c.(235-237)TAT>CAT	p.Y79H		NM_022337	NP_071732	P57729	RAB38_HUMAN	RAB38	79					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTCGGTAATAGACCCTCGTC	0.358													G	87883091	A	G	87883091	3	3	195	1	0	0	0	0	1	0	0	0	12928	420	15	3	408	3	RAB38	11	87883091	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	9442508	87883091	47123425	1034	108138											
CTSC	1075	broad.mit.edu	37	chr11	88027300	88027300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtttttaacaatccaGtaatccatcccagaggctga	7	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:88027300G>A	uc001pck.3	-	7	1367	c.1266C>T	c.(1264-1266)TAC>TAT	p.Y422Y	CTSC_uc001pcl.3_Silent_p.Y274Y	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	422					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAACAATCCAGTAATCCATCC	0.517													A	88027300	G	A	88027300	2	1	195	1	0	0	0	0	0	0	0	1	4031	1024	36	4		4	CTSC	11	88027300	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	144209	88027300	46979216	1035	108139											
FAT3	120114	broad.mit.edu	37	chr11	92532253	92532253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttaaacccaggaaataAgttcaagataaaatctacct	4	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:92532253A>C	uc001pdj.3	+	9	6091	c.6074A>C	c.(6073-6075)AAG>ACG	p.K2025T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2025	Extracellular (Potential).|Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGGAAATAAGTTCAAGATA	0.423										TCGA Ovarian(4;0.039)			C	92532253	A	C	92532253	3	2	195	1	0	0	0	0	1	0	0	0	5691	72	3	5	6108	5	FAT3	11	92532253	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	4504953	92532253	42474263	1036	108140											
FAT3	120114	broad.mit.edu	37	chr11	92577560	92577560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgcaccctgcggaatgCagtcctcacccagaagcagg	12	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:92577560C>T	uc001pdj.3	+	18	11044	c.11027C>T	c.(11026-11028)GCA>GTA	p.A3676V	FAT3_uc001pdi.3_Missense_Mutation_p.A116V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3676	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCGGAATGCAGTCCTCACC	0.592										TCGA Ovarian(4;0.039)			T	92577560	C	T	92577560	3	4	195	1	0	0	0	0	1	0	0	0	5691	710	25	2	11097	2	FAT3	11	92577560	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	45307	92577560	42428956	1037	108141											
MRE11A	4361	broad.mit.edu	37	chr11	94180539	94180539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctatactcataaggtcAtcagcactaaaggcagaagc	7	9	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:94180539A>G	uc001peu.2	-	15	1818	c.1629T>C	c.(1627-1629)GAT>GAC	p.D543D	MRE11A_uc001pev.2_Silent_p.D543D|MRE11A_uc009ywj.2_Silent_p.D546D	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	543					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(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCATAAGGTCATCAGCACTAA	0.473								Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				G	94180539	A	G	94180539	2	3	195	1	0	0	0	0	0	0	0	1	9759	214	8	3		3	MRE11A	11	94180539	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1602979	94180539	40825977	1038	108142											
DYNC2H1	79659	broad.mit.edu	37	chr11	102992131	102992131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agactttgagaatcggtgccGaggaattcctggtgatgcat	13	7	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:102992131G>A	uc001pho.2	+	10	1535	c.1391G>A	c.(1390-1392)CGA>CAA	p.R464Q	DYNC2H1_uc001phn.1_Missense_Mutation_p.R464Q|DYNC2H1_uc009yxe.1_Missense_Mutation_p.R464Q	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	464	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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATCGGTGCCGAGGAATTCCT	0.353													A	102992131	G	A	102992131	3	1	195	1	0	0	0	0	1	0	0	0	4846	1058	37	1	1429	1	DYNC2H1	11	102992131	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8811592	102992131	32014385	1039	108143											
DYNC2H1	79659	broad.mit.edu	37	chr11	103041640	103041640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgtgaagtcaatgggacGaatatttgttggtttggtga	14	3	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:103041640G>A	uc001pho.2	+	34	5321	c.5177G>A	c.(5176-5178)CGA>CAA	p.R1726Q	DYNC2H1_uc001phn.1_Missense_Mutation_p.R1726Q|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1726	AAA 1 (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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAATGGGACGAATATTTGTT	0.318													A	103041640	G	A	103041640	3	1	195	1	0	0	0	0	1	0	0	0	4846	1058	37	1	5311	1	DYNC2H1	11	103041640	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	49509	103041640	31964876	1040	108144											
CWF19L2	143884	broad.mit.edu	37	chr11	107299981	107299981	+	Frame_Shift_Del	DEL	T	T	-													taaatttttcattattgctaTtttttgcagtatctgttgta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:107299980_107299980AT>A	uc010rvp.2	-	7	1008	c.978_978AT>T	c.(976-978)aatfs	p.N326fs	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	326							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)		CATTATTGCTATTTTTTGCAG	0.323													-	107299981	T	-	107299981	7	5	195	1	0	1	0	1	0	0	0	0	4072	1493	52	0	1751	0	CWF19L2	11	107299981	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	4258341	107299981	27706535	1041	108145											
NPAT	4863	broad.mit.edu	37	chr11	108040522	108040522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgagattttggagggaCggggaattgagggatacttc	15	5	1	2	rs62642487		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:108040522C>T	uc001pjz.3	-	15	3061	c.2959G>A	c.(2959-2961)GTC>ATC	p.V987I	NPAT_uc010rvv.1_Missense_Mutation_p.V43I	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	987					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			ovary(2)	2		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)		TTTGGAGGGACGGGGAATTGA	0.368													T	108040522	C	T	108040522	3	4	195	1	0	0	0	0	1	0	0	0	10566	536	19	1	1340	1	NPAT	11	108040522	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	740541	108040522	26965994	1042	108146											
ATM	472	broad.mit.edu	37	chr11	108160489	108160489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttgggcctttgttcttcGagacgttatttatactttga	9	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:108160489G>A	uc001pkb.1	+	29	4782	c.4397G>A	c.(4396-4398)CGA>CAA	p.R1466Q	ATM_uc009yxr.1_Missense_Mutation_p.R1466Q|ATM_uc001pkd.3_Missense_Mutation_p.R118Q|ATM_uc001pke.1_Missense_Mutation_p.R118Q|ATM_uc010rvw.1_Missense_Mutation_p.R118Q|ATM_uc001pkf.2_Missense_Mutation_p.R118Q	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1466					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		TTTGTTCTTCGAGACGTTATT	0.308			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)			A	108160489	G	A	108160489	3	1	195	1	0	0	0	0	1	0	0	0	1109	1058	37	1	4507	1	ATM	11	108160489	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	119967	108160489	26846027	1043	108147											
KDELC2	143888	broad.mit.edu	37	chr11	108351905	108351905	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagactcaaatgcatAccttaaagaaatcaaagaaa	6	6	2	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:108351905A>G	uc001pkj.2	-	5	1164	c.1098_splice	c.e5+1	p.K366_splice	KDELC2_uc001pki.2_Splice_Site_p.K310_splice	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor							endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TCAAATGCATACCTTAAAGAA	0.363													G	108351905	A	G	108351905	5	3	195	1	0	0	0	0	0	0	1	0	8118	405	14	3	439	3	KDELC2	11	108351905	Splice_Site	SNP	A	TCGA-CG-5728-01A-11D-1600-08	191416	108351905	26654611	1044	108148											
NCAM1	4684	broad.mit.edu	37	chr11	113126681	113126681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgatcaagcaggatgaCggcggctcccccatcagaca	10	14	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:113126681C>T	uc001pns.2	+	1	83	c.51C>T	c.(49-51)GAC>GAT	p.D17D				P13591	NCAM1_HUMAN	SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform;	637	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCAGGATGACGGCGGCTCCC	0.552													T	113126681	C	T	113126681	2	4	195	1	0	0	0	0	0	0	0	1	10202	535	19	1		1	NCAM1	11	113126681	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4774776	113126681	21879835	1045	108149											
TTC12	54970	broad.mit.edu	37	chr11	113196305	113196305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatgaaacagctatcctgCgctacagtgagggtttggag	12	7	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:113196305C>T	uc001pnu.2	+	6	487	c.382C>T	c.(382-384)CGC>TGC	p.R128C	TTC12_uc001pnv.2_Missense_Mutation_p.R128C|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_5'UTR	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	128	TPR 1.						binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGCTATCCTGCGCTACAGTGA	0.478													T	113196305	C	T	113196305	3	4	195	1	0	0	0	0	1	0	0	0	16676	768	27	1	400	1	TTC12	11	113196305	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	69624	113196305	21810211	1046	108150											
MLL	4297	broad.mit.edu	37	chr11	118375926	118375926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacccaaaaaatccaaTtgacctcttctgttagttct	6	10	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:118375926T>C	uc001pta.2	+	27	9333	c.9310T>C	c.(9310-9312)TTG>CTG	p.L3104L	MLL_uc001ptb.2_Silent_p.L3107L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3104					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAAAATCCAATTGACCTCTTC	0.453			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								C	118375926	T	C	118375926	2	2	195	1	0	0	0	0	0	0	0	1	9620	1490	52	3		3	MLL	11	118375926	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	5179621	118375926	16630590	1047	108151											
MLL	4297	broad.mit.edu	37	chr11	118379858	118379858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttatttaggcaagtcGctgttcttccggaagttcag	11	7	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:118379858G>A	uc001pta.2	+	29	10857	c.10834G>A	c.(10834-10836)GCT>ACT	p.A3612T	MLL_uc001ptb.2_Missense_Mutation_p.A3615T	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3612					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAGGCAAGTCGCTGTTCTTCC	0.328			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118379858	G	A	118379858	3	1	195	1	0	0	0	0	1	0	0	0	9620	1087	38	1	10948	1	MLL	11	118379858	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3932	118379858	16626658	1048	108152											
IFT46	56912	broad.mit.edu	37	chr11	118427698	118427698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatcatcatcatcatcAtcgtcatcctcattttcact	3	12	8	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:118427698A>G	uc001ptp.1	-	4	486	c.108T>C	c.(106-108)GAT>GAC	p.D36D	IFT46_uc001pto.1_Silent_p.D87D|IFT46_uc009zaf.1_Silent_p.D87D	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	IFT46	36	Asp/Glu-rich (highly acidic).				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0						catcatcatcatcgtcatcct	0.408													G	118427698	A	G	118427698	2	3	195	1	0	0	0	0	0	0	0	1	7560	214	8	3		3	IFT46	11	118427698	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	47840	118427698	16578818	1049	108153											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	195	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-CG-5728-01A-11D-1600-08	201916	118629614	16376902	1050	108154											
PDZD3	79849	broad.mit.edu	37	chr11	119057184	119057184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgctgcccacctcaccctCcagatccctggagcctggag	9	18	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:119057184C>T	uc001pwb.2	+	2	837	c.313C>T	c.(313-315)CCA>TCA	p.P105S	PDZD3_uc001pvy.2_Intron|PDZD3_uc001pvz.2_Intron|PDZD3_uc010rzd.1_Intron|PDZD3_uc001pwa.2_Intron			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	105					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		ACCTCACCCTCCAGATCCCTG	0.627													T	119057184	C	T	119057184	3	4	195	1	0	0	0	0	1	0	0	0	11702	870	30	4		4	PDZD3	11	119057184	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	427570	119057184	15949332	1051	108155											
ARHGEF12	23365	broad.mit.edu	37	chr11	120298860	120298860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgactctgaagtagagccGtcagtcattggacatatgtc	11	10	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:120298860G>A	uc001pxl.1	+	8	496	c.489G>A	c.(487-489)CCG>CCA	p.P163P	ARHGEF12_uc009zat.2_Silent_p.P144P|ARHGEF12_uc010rzn.1_Silent_p.P60P|ARHGEF12_uc009zau.1_Silent_p.P60P	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	163					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			lung(2)|breast(2)|skin(2)|ovary(1)	7		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)		AAGTAGAGCCGTCAGTCATTG	0.542			T	MLL	AML								A	120298860	G	A	120298860	2	1	195	1	0	0	0	0	0	0	0	1	897	1132	40	1		1	ARHGEF12	11	120298860	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1241676	120298860	14707656	1052	108156											
TECTA	7007	broad.mit.edu	37	chr11	121037453	121037453	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattttatctcctttcagatCaacaacaccaaagggaattg	6	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:121037453C>A	uc010rzo.1	+	17	5550	c.5550C>A	c.(5548-5550)ATC>ATA	p.I1850I		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1850	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CCTTTCAGATCAACAACACCA	0.507													A	121037453	C	A	121037453	2	1	195	1	0	0	0	0	0	0	0	1	15744	816	29	5		5	TECTA	11	121037453	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	738593	121037453	13969063	1053	108157											
SORL1	6653	broad.mit.edu	37	chr11	121460806	121460806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtttcggtgtgagaatgGccactgcatccccaacagat	10	12	0	2	rs148551848	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:121460806G>A	uc001pxx.2	+	30	4216	c.4136G>A	c.(4135-4137)GGC>GAC	p.G1379D	SORL1_uc010rzp.1_Missense_Mutation_p.G225D|SORL1_uc010rzq.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1379	Extracellular (Potential).|LDL-receptor class A 8.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		TGTGAGAATGGCCACTGCATC	0.547													A	121460806	G	A	121460806	3	1	195	1	0	0	0	0	1	0	0	0	14934	1203	42	2	4254	2	SORL1	11	121460806	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	423353	121460806	13545710	1054	108158											
UBASH3B	84959	broad.mit.edu	37	chr11	122659877	122659877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggtccccggggacttcAtcttcatgtctccaatggag	11	12	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:122659877A>G	uc001pyi.3	+	6	1201	c.841A>G	c.(841-843)ATC>GTC	p.I281V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	281	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CGGGGACTTCATCTTCATGTC	0.542													G	122659877	A	G	122659877	3	3	195	1	0	0	0	0	1	0	0	0	16837	217	8	3	863	3	UBASH3B	11	122659877	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1199071	122659877	12346639	1055	108159											
ASAM	79827	broad.mit.edu	37	chr11	122944466	122944466	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttcacaagacgggcttttgGagcttcagcatcttctctga	9	10	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:122944466G>C	uc001pyt.2	-	7	1197	c.838C>G	c.(838-840)CCA>GCA	p.P280A		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	280	Cytoplasmic (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CGGGCTTTTGGAGCTTCAGCA	0.498													C	122944466	G	C	122944466	3	2	195	1	0	0	0	0	1	0	0	0	1009	1174	41	5	287	5	ASAM	11	122944466	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	284589	122944466	12062050	1056	108160											
ZNF202	7753	broad.mit.edu	37	chr11	123597620	123597620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtgaatttctggttcTcccaaaacaggcctgtgtat	10	9	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:123597620T>C	uc001pzd.1	-	9	1432	c.1032A>G	c.(1030-1032)GGA>GGG	p.G344G	ZNF202_uc001pzc.1_Silent_p.G120G|ZNF202_uc001pze.1_Silent_p.G344G|ZNF202_uc001pzf.1_Silent_p.G344G	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	344					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			ovary(1)	1		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)		TTTCTGGTTCTCCCAAAACAG	0.418													C	123597620	T	C	123597620	2	2	195	1	0	0	0	0	0	0	0	1	17760	1538	54	3		3	ZNF202	11	123597620	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	653154	123597620	11408896	1057	108161											
ESAM	90952	broad.mit.edu	37	chr11	124626554	124626554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggagaccctccagccGcagggacaggttccgggagg	15	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:124626554G>A	uc001qav.3	-	3	507	c.334C>T	c.(334-336)CGG>TGG	p.R112W	ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.R39W|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.R112W	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	112	Extracellular (Potential).|Ig-like V-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	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)		CCCTCCAGCCGCAGGGACAGG	0.542													A	124626554	G	A	124626554	3	1	195	1	0	0	0	0	1	0	0	0	5247	1086	38	1	858	1	ESAM	11	124626554	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1028934	124626554	10379962	1058	108162											
ROBO3	64221	broad.mit.edu	37	chr11	124749423	124749423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccccgtgctcgattcCggaagaaacccaaggctctt	10	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:124749423C>T	uc001qbc.2	+	25	3940	c.3748C>T	c.(3748-3750)CGG>TGG	p.R1250W	ROBO3_uc001qbd.2_Missense_Mutation_p.R175W|ROBO3_uc010sar.1_Missense_Mutation_p.R299W|ROBO3_uc001qbe.2_Missense_Mutation_p.R175W|ROBO3_uc001qbf.1_Missense_Mutation_p.R134W	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1250	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	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)		TGCTCGATTCCGGAAGAAACC	0.607													T	124749423	C	T	124749423	3	4	195	1	0	0	0	0	1	0	0	0	13515	643	23	1	3846	1	ROBO3	11	124749423	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	122869	124749423	10257093	1059	108163											
STT3A	3703	broad.mit.edu	37	chr11	125472242	125472242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctggctgaggaggggtTttataaattccataactggt	12	6	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:125472242T>C	uc001qcd.2	+	4	304	c.194T>C	c.(193-195)TTT>TCT	p.F65S	STT3A_uc009zbm.2_Missense_Mutation_p.F65S|STT3A_uc001qce.2_Missense_Mutation_p.F65S|STT3A_uc010sbg.1_5'UTR	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	65	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAGGAGGGGTTTTATAAATTC	0.413													C	125472242	T	C	125472242	3	2	195	1	0	0	0	0	1	0	0	0	15332	1841	64	3	204	3	STT3A	11	125472242	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	722819	125472242	9534274	1060	108164											
ARHGAP32	9743	broad.mit.edu	37	chr11	128851757	128851757	+	Frame_Shift_Del	DEL	T	T	-													gagcccaaacaattgctagaTtttttgcatgcatatttgtg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:128851756_128851756AT>A	uc009zcp.3	-	14	1560	c.1560_1560AT>T	c.(1558-1560)aatfs	p.N520fs	ARHGAP32_uc009zcq.2_Frame_Shift_Del_p.N480fs|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Frame_Shift_Del_p.N171fs	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	520	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome 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						CAATTGCTAGATTTTTTGCAT	0.328													-	128851757	T	-	128851757	7	5	195	1	0	1	0	1	0	0	0	0	881	1493	52	0	4736	0	ARHGAP32	11	128851757	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	3379515	128851757	6154759	1061	108165											
THYN1	29087	broad.mit.edu	37	chr11	134120196	134120198	+	In_Frame_Del	DEL	TGT	TGT	-													ttacgaacaccatcccagcaTgttgtctgtttgggctgtgc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:134120195_134120197ATGT>A	uc001qhf.3	-	3	365_367	c.263_265ACAT>T	c.(262-267)acatgc>aTgc	p.88_89TC>M	THYN1_uc001qhg.3_In_Frame_Del_p.88_89TC>M|THYN1_uc001qhh.3_In_Frame_Del_p.88_89TC>M|THYN1_uc001qhi.3_In_Frame_Del_p.88_89TC>M|THYN1_uc001qhj.3_In_Frame_Del_p.88_89TC>M|THYN1_uc009zdb.3_In_Frame_Del_p.88_89TC>M	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	88						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CCATCCCAGCATGTTGTCTGTTT	0.478													-	134120198	TGT	-	134120196	7	5	195	1	0	1	0	1	0	0	0	0	15883	1451	51	0	433	0	THYN1	11	134120196	In_Frame_Del	DEL	TGT	TCGA-CG-5728-01A-11D-1600-08	5268439	134120196	886320	1062	108166											
GLB1L2	89944	broad.mit.edu	37	chr11	134238664	134238664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgactacaagtcagatgTcaccagctatggcaagtatt	8	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr11:134238664T>C	uc001qhp.2	+	10	1204	c.1016T>C	c.(1015-1017)GTC>GCC	p.V339A	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	339					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		AAGTCAGATGTCACCAGCTAT	0.547													C	134238664	T	C	134238664	3	2	195	1	0	0	0	0	1	0	0	0	6429	1667	58	3	1054	3	GLB1L2	11	134238664	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	118468	134238664	767852	1063	108167											
WNT5B	81029	broad.mit.edu	37	chr12	1748923	1748923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcagccgggcctgccgCgagggcgagctctccacctg	14	17	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:1748923C>T	uc009zdq.2	+	4	644	c.402C>T	c.(400-402)CGC>CGT	p.R134R	WNT5B_uc001qjj.2_Silent_p.R134R|WNT5B_uc001qjk.2_Silent_p.R134R|WNT5B_uc001qjl.2_Silent_p.R134R	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	134				R -> S (in Ref. 1; AAG38659).	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)			GGGCCTGCCGCGAGGGCGAGC	0.731													T	1748923	C	T	1748923	2	4	195	1	0	0	0	0	0	0	0	1	17389	755	27	1		1	WNT5B	12	1748923	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08		1748923	132102972	1064	108168											
CACNA2D4	93589	broad.mit.edu	37	chr12	1983828	1983828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtttccctattgatcAtggctgttctcagcttcagg	8	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:1983828A>G	uc001qjp.2	-	18	2051	c.1820T>C	c.(1819-1821)ATG>ACG	p.M607T	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	607	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	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)		CCTATTGATCATGGCTGTTCT	0.483													G	1983828	A	G	1983828	3	3	195	1	0	0	0	0	1	0	0	0	2551	217	8	3	1677	3	CACNA2D4	12	1983828	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	234905	1983828	131868067	1065	108169											
KCNA1	3736	broad.mit.edu	37	chr12	5021148	5021148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacttcacgggcaccGtccaccgcatcgacaacacc	8	17	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:5021148G>A	uc001qnh.2	+	2	1709	c.604G>A	c.(604-606)GTC>ATC	p.V202I		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	202					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACGGGCACCGTCCACCGCAT	0.532													A	5021148	G	A	5021148	3	1	195	1	0	0	0	0	1	0	0	0	8001	1145	40	1	606	1	KCNA1	12	5021148	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3037320	5021148	128830747	1066	108170											
ANO2	57101	broad.mit.edu	37	chr12	5721879	5721879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccccaacatgatgatgCtgagctgaatgcagagctcc	10	12	0	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:5721879C>T	uc001qnm.2	-	20	2102	c.2030G>A	c.(2029-2031)AGC>AAC	p.S677N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	682	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						CATGATGATGCTGAGCTGAAT	0.507													T	5721879	C	T	5721879	3	4	195	1	0	0	0	0	1	0	0	0	697	797	28	2	994	2	ANO2	12	5721879	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	700731	5721879	128130016	1067	108171											
VWF	7450	broad.mit.edu	37	chr12	6092336	6092336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggtgaagttgggtctgCactcgccagggttggtcagt	16	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:6092336C>T	uc001qnn.1	-	41	7311	c.7061G>A	c.(7060-7062)TGC>TAC	p.C2354Y	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2354					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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GTTGGGTCTGCACTCGCCAGG	0.622													T	6092336	C	T	6092336	3	4	195	1	0	0	0	0	1	0	0	0	17243	710	25	2	1428	2	VWF	12	6092336	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	370457	6092336	127759559	1068	108172											
C12orf53	196500	broad.mit.edu	37	chr12	6806618	6806618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggattggcagagttggGgtcccctccatcctctcgag	13	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:6806618G>A	uc001qqf.1	-	3	434	c.358C>T	c.(358-360)CCC>TCC	p.P120S	C12orf53_uc001qqg.1_Missense_Mutation_p.P120S	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	120	Extracellular (Potential).					integral to membrane					0						GCAGAGTTGGGGTCCCCTCCA	0.617													A	6806618	G	A	6806618	3	1	195	1	0	0	0	0	1	0	0	0	1698	1232	43	4	506	4	C12orf53	12	6806618	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	714282	6806618	127045277	1069	108173											
CLSTN3	9746	broad.mit.edu	37	chr12	7293944	7293944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcatccatgacaatgGcctcatccacccaccccgaa	5	19	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:7293944G>A	uc001qsr.2	+	9	1708	c.1430G>A	c.(1429-1431)GGC>GAC	p.G477D	CLSTN3_uc001qss.2_Missense_Mutation_p.G489D	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	477	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CATGACAATGGCCTCATCCAC	0.562											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7293944	G	A	7293944	3	1	195	1	0	0	0	0	1	0	0	0	3563	1203	42	2	1464	2	CLSTN3	12	7293944	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	487326	7293944	126557951	1070	108174											
GDF3	9573	broad.mit.edu	37	chr12	7842986	7842986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataacccgaaatttttccGggggttgtcattccaatcct	8	10	1	0	rs112895783	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:7842986G>A	uc001qte.2	-	2	619	c.583C>T	c.(583-585)CGG>TGG	p.R195W		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	195			R -> Q (in MCOP7).		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						AAATTTTTCCGGGGGTTGTCA	0.473													A	7842986	G	A	7842986	3	1	195	1	0	0	0	0	1	0	0	0	6315	1115	39	1	515	1	GDF3	12	7842986	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	549042	7842986	126008909	1071	108175											
CLEC1A	51267	broad.mit.edu	37	chr12	10225945	10225945	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaggccttgccactgtcAgggcgcaaaagccctgtcca	11	15	1	0	rs34926270		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:10225945A>C	uc001qxb.2	-	5	693	c.609T>G	c.(607-609)CCT>CCG	p.P203P	CLEC1A_uc009zhf.2_Silent_p.P115P|CLEC1A_uc001qxc.2_Silent_p.P115P|CLEC1A_uc001qxd.2_Silent_p.P160P|CLEC1A_uc010sgx.1_Silent_p.P101P	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	203	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						TGCCACTGTCAGGGCGCAAAA	0.443													C	10225945	A	C	10225945	2	2	195	1	0	0	0	0	0	0	0	1	3505	175	7	5		5	CLEC1A	12	10225945	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2382959	10225945	123625950	1072	108176											
TAS2R30	259293	broad.mit.edu	37	chr12	11286356	11286356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaatttgatcttccaaGtcacgtttccttcatattct	3	12	5	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:11286356G>C	uc009zhs.1	-	1	488	c.488C>G	c.(487-489)ACT>AGT	p.T163S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_001097643	NP_001091112			type 2 taste receptor member 30												0						GATCTTCCAAGTCACGTTTCC	0.393													C	11286356	G	C	11286356	3	2	195	1	0	0	0	0	1	0	0	0	15570	1029	36	5	475	5	TAS2R30	12	11286356	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1060411	11286356	122565539	1073	108177											
DUSP16	80824	broad.mit.edu	37	chr12	12629784	12629784	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaggagacctcaatgaTttccatgctgcccgaaaagc	8	12	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:12629784T>G	uc001rao.1	-	7	2613	c.1981A>C	c.(1981-1983)ATC>CTC	p.I661L	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.I513L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	661					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				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ACCTCAATGATTTCCATGCTG	0.403													G	12629784	T	G	12629784	3	3	195	1	0	0	0	0	1	0	0	0	4816	1493	52	5	20	5	DUSP16	12	12629784	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1343428	12629784	121222111	1074	108178											
PLBD1	79887	broad.mit.edu	37	chr12	14706188	14706188	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctcattgctcagggTttgagagccatagccagctc	11	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:14706188T>G	uc001rcc.1	-	2	435	c.274A>C	c.(274-276)ACC>CCC	p.T92P		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	92					lipid catabolic process	extracellular region	hydrolase activity				0						TTGCTCAGGGTTTGAGAGCCA	0.507													G	14706188	T	G	14706188	3	3	195	1	0	0	0	0	1	0	0	0	12025	1725	60	5	1427	5	PLBD1	12	14706188	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2076404	14706188	119145707	1075	108179											
GUCY2C	2984	broad.mit.edu	37	chr12	14781623	14781623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatttttttgaaatctgGtctcttttctggatcttcct	5	9	5	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:14781623G>A	uc001rcd.2	-	20	2343	c.2206C>T	c.(2206-2208)CCA>TCA	p.P736S		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	736	Cytoplasmic (Potential).|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			ovary(4)|skin(2)	6						TTGAAATCTGGTCTCTTTTCT	0.328													A	14781623	G	A	14781623	3	1	195	1	0	0	0	0	1	0	0	0	6896	1261	44	4	1047	4	GUCY2C	12	14781623	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	75435	14781623	119070272	1076	108180											
GUCY2C	2984	broad.mit.edu	37	chr12	14794028	14794028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgtaccattccggtcccGacagctcaaagtgtagaagg	11	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:14794028G>A	uc001rcd.2	-	18	2193	c.2056C>T	c.(2056-2058)CGG>TGG	p.R686W		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	686	Cytoplasmic (Potential).|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			ovary(4)|skin(2)	6						TTCCGGTCCCGACAGCTCAAA	0.502													A	14794028	G	A	14794028	3	1	195	1	0	0	0	0	1	0	0	0	6896	1057	37	1	1205	1	GUCY2C	12	14794028	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	12405	14794028	119057867	1077	108181											
GUCY2C	2984	broad.mit.edu	37	chr12	14796510	14796510	+	Splice_Site	DEL	T	T	-													atttcattcattacagacccTtttttggaggtaaaatggaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:14796509_14796509CT>C	uc001rcd.3	-	17	2067	c.1930_splice	c.e17+1	p.D644_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	644	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						ATTACAGACCCTTTTTTGGAG	0.388													-	14796510	T	-	14796510	8	5	195	1	0	1	0	1	0	0	1	0	6896	1609	56	0	1337	0	GUCY2C	12	14796510	Splice_Site	DEL	T	TCGA-CG-5728-01A-11D-1600-08	2482	14796510	119055385	1078	108182											
ART4	420	broad.mit.edu	37	chr12	14993971	14993971	+	Frame_Shift_Del	DEL	T	T	-													aaataattcttctgggcttcTatgtcttttgtgaaataatc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:14993970_14993970CT>C	uc001rcl.1	-	1	628	c.262_262AG>G	c.(262-264)gaafs	p.E88fs	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Frame_Shift_Del_p.E88fs	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	88					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						TTCTGGGCTTCTATGTCTTTT	0.433													-	14993971	T	-	14993971	7	5	195	1	0	1	0	1	0	0	0	0	999	1512	53	0	691	0	ART4	12	14993971	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	197461	14993971	118857924	1079	108183											
KIAA0528	9847	broad.mit.edu	37	chr12	22624384	22624384	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaatttacatggcaaagGcagcaggggatcatagatcg	12	6	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:22624384G>T	uc001rfq.2	-	20	2535	c.2307C>A	c.(2305-2307)TGC>TGA	p.C769*	KIAA0528_uc010sir.1_Nonsense_Mutation_p.C584*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.C769*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.C771*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.C769*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.C760*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	769							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CATGGCAAAGGCAGCAGGGGA	0.284													T	22624384	G	T	22624384	4	4	195	1	0	0	0	0	0	1	0	0	8182	1195	42	5	719	5	KIAA0528	12	22624384	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	7630413	22624384	111227511	1080	108184											
ITPR2	3709	broad.mit.edu	37	chr12	26572039	26572039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgcaaaccaggacataCgccacgtgatagagaaaggc	11	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:26572039C>T	uc001rhg.2	-	50	7470	c.7053G>A	c.(7051-7053)GCG>GCA	p.A2351A	ITPR2_uc009zjg.1_Silent_p.A502A	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2351	Extracellular (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CCAGGACATACGCCACGTGAT	0.448													T	26572039	C	T	26572039	2	4	195	1	0	0	0	0	0	0	0	1	7921	523	19	1		1	ITPR2	12	26572039	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3947655	26572039	107279856	1081	108185											
KLHDC5	57542	broad.mit.edu	37	chr12	27950767	27950767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagagaccatctacatcGtgggggggtgtctccacgag	15	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:27950767G>A	uc001rij.2	+	3	1263	c.1186G>A	c.(1186-1188)GTG>ATG	p.V396M	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	396	Kelch 5.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					CATCTACATCGTGGGGGGGTG	0.597													A	27950767	G	A	27950767	3	1	195	1	0	0	0	0	1	0	0	0	8359	1145	40	1	1196	1	KLHDC5	12	27950767	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1378728	27950767	105901128	1082	108186											
PTHLH	5744	broad.mit.edu	37	chr12	28122392	28122392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagctcagcaggaacacCgcgacgctccactgctgaac	11	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:28122392C>T	uc001rik.2	-	2	339	c.36G>A	c.(34-36)GCG>GCA	p.A12A	PTHLH_uc001ril.2_Silent_p.A12A|PTHLH_uc001rim.2_Silent_p.A12A|PTHLH_uc001rin.2_Silent_p.A12A	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	12					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)	1	Lung SC(9;0.184)					GCAGGAACACCGCGACGCTCC	0.677													T	28122392	C	T	28122392	2	4	195	1	0	0	0	0	0	0	0	1	12761	639	23	1		1	PTHLH	12	28122392	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	171625	28122392	105729503	1083	108187											
IPO8	10526	broad.mit.edu	37	chr12	30784848	30784848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaccgtccgtcggtgCtctgccagtgtgtacacctc	10	17	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:30784848C>T	uc001rjd.2	-	24	3167	c.2997G>A	c.(2995-2997)GAG>GAA	p.E999E	IPO8_uc001rje.1_Silent_p.E488E|IPO8_uc010sjt.1_Silent_p.E794E	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	999					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	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)					TCCGTCGGTGCTCTGCCAGTG	0.587													T	30784848	C	T	30784848	2	4	195	1	0	0	0	0	0	0	0	1	7798	796	28	2		2	IPO8	12	30784848	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2662456	30784848	103067047	1084	108188											
ALG10B	144245	broad.mit.edu	37	chr12	38714491	38714491	+	Frame_Shift_Del	DEL	T	T	-													actttttttcatttactctcTttttttcttttcctcatctc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:38714490_38714490CT>C	uc001rln.4	+	2	1036	c.897_897CT>C	c.(895-897)ctcfs	p.L299fs		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	299					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CATTTACTCTCTTTTTTTCTT	0.348													-	38714491	T	-	38714491	7	5	195	1	0	1	0	1	0	0	0	0	512	1609	56	0	908	0	ALG10B	12	38714491	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	7929643	38714491	95137404	1085	108189											
LRRK2	120892	broad.mit.edu	37	chr12	40717061	40717061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctagaaatattatgtTgaataatgatgagttggaat	9	4	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:40717061T>C	uc001rmg.3	+	38	5730	c.5609T>C	c.(5608-5610)TTG>TCG	p.L1870S	LRRK2_uc009zjw.2_Missense_Mutation_p.L708S|LRRK2_uc001rmi.2_Missense_Mutation_p.L703S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1870			L -> F.		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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATATTATGTTGAATAATGAT	0.353													C	40717061	T	C	40717061	3	2	195	1	0	0	0	0	1	0	0	0	9033	1821	63	3	5759	3	LRRK2	12	40717061	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2002570	40717061	93134834	1086	108190											
NELL2	4753	broad.mit.edu	37	chr12	45269072	45269072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgcactccggtcgtggaCtccccaagttctaactctgt	9	14	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:45269072C>T	uc001rog.2	-	2	715	c.120G>A	c.(118-120)GAG>GAA	p.E40E	NELL2_uc001rof.3_Silent_p.E39E|NELL2_uc001roh.2_Silent_p.E40E|NELL2_uc009zkd.2_Silent_p.E39E|NELL2_uc010skz.1_Silent_p.E90E|NELL2_uc010sla.1_Silent_p.E63E|NELL2_uc001roi.1_Silent_p.E40E|NELL2_uc010slb.1_Silent_p.E39E|NELL2_uc001roj.2_Silent_p.E40E	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	40	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGTCGTGGACTCCCCAAGTT	0.547													T	45269072	C	T	45269072	2	4	195	1	0	0	0	0	0	0	0	1	10334	564	20	4		4	NELL2	12	45269072	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4552011	45269072	88582823	1087	108191											
SENP1	29843	broad.mit.edu	37	chr12	48477525	48477525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgatggtttgactttcccGcaaaactgtttgataatcca	8	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:48477525G>A	uc001rqx.2	-	6	847	c.401C>T	c.(400-402)GCG>GTG	p.A134V	SENP1_uc001rqw.2_Missense_Mutation_p.A134V|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.A134V	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	134	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGACTTTCCCGCAAAACTGTT	0.333													A	48477525	G	A	48477525	3	1	195	1	0	0	0	0	1	0	0	0	14046	1087	38	1	1582	1	SENP1	12	48477525	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3208453	48477525	85374370	1088	108192											
SENP1	29843	broad.mit.edu	37	chr12	48477548	48477548	+	Splice_Site	DEL	A	A	-													aaactgtttgataatccactAaaaaaagagtttgtaagaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:48477547_48477547TA>T	uc001rqx.3	-	6	827	c.381_splice	c.e6-1	p.S127_splice	SENP1_uc001rqw.3_Splice_Site_p.S127_splice|SENP1_uc001rqy.3_Splice_Site|SENP1_uc001rqz.3_Splice_Site|SENP1_uc009zkx.3_Splice_Site_p.S127_splice	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	127	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GATAATCCACTAAAAAAAGAG	0.303													-	48477548	A	-	48477548	8	5	195	1	0	1	0	1	0	0	1	0	14046	377	13	0		0	SENP1	12	48477548	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	23	48477548	85374347	1089	108193											
MLL2	8085	broad.mit.edu	37	chr12	49445038	49445038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaggtgcggctcctcagTctggggggacaggtgcaatt	16	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:49445038T>C	uc001rta.3	-	10	2428	c.2428A>G	c.(2428-2430)ACT>GCT	p.T810A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	810	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGCTCCTCAGTCTGGGGGGAC	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			C	49445038	T	C	49445038	3	2	195	1	0	0	0	0	1	0	0	0	9621	1667	58	3	14365	3	MLL2	12	49445038	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	967490	49445038	84406857	1090	108194											
KCNH3	23416	broad.mit.edu	37	chr12	49948198	49948198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgacgtgaaggggctgaCgtactgcgtcctgcagtgtc	15	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:49948198C>T	uc001ruh.1	+	11	2257	c.1997C>T	c.(1996-1998)ACG>ATG	p.T666M	KCNH3_uc010smj.1_Missense_Mutation_p.T606M	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	666	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						AAGGGGCTGACGTACTGCGTC	0.662													T	49948198	C	T	49948198	3	4	195	1	0	0	0	0	1	0	0	0	8033	536	19	1	2039	1	KCNH3	12	49948198	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	503160	49948198	83903697	1091	108195											
AQP6	363	broad.mit.edu	37	chr12	50369275	50369275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggcccctgatgggaGccctcctggcctcactgatc	15	14	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:50369275G>A	uc001rvr.1	+	4	1007	c.670G>A	c.(670-672)GCC>ACC	p.A224T	AQP6_uc001rvp.1_Missense_Mutation_p.A50T|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	224	Helical; (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						CCTGATGGGAGCCCTCCTGGC	0.642													A	50369275	G	A	50369275	3	1	195	1	0	0	0	0	1	0	0	0	830	971	34	2	684	2	AQP6	12	50369275	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	421077	50369275	83482620	1092	108196											
DIP2B	57609	broad.mit.edu	37	chr12	51054033	51054033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcataaagaacagaagatgGctttgcccatgccaaccaaa	8	10	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:51054033G>A	uc001rwv.2	+	4	514	c.358G>A	c.(358-360)GCT>ACT	p.A120T	DIP2B_uc001rwu.2_Missense_Mutation_p.A120T|DIP2B_uc009zls.1_Missense_Mutation_p.A2T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	120						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						ACAGAAGATGGCTTTGCCCAT	0.453													A	51054033	G	A	51054033	3	1	195	1	0	0	0	0	1	0	0	0	4528	1203	42	2	372	2	DIP2B	12	51054033	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	684758	51054033	82797862	1093	108197											
KRT73	319101	broad.mit.edu	37	chr12	53009982	53009982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaccacttcgcgcacGctcctcagctccgagtccag	7	20	1	0	rs116369374	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:53009982G>A	uc001sas.2	-	2	665	c.630C>T	c.(628-630)AGC>AGT	p.S210S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	210	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCGCGCACGCTCCTCAGCT	0.622													A	53009982	G	A	53009982	2	1	195	1	0	0	0	0	0	0	0	1	8486	1078	38	1		1	KRT73	12	53009982	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1955949	53009982	80841913	1094	108198											
KRT3	3850	broad.mit.edu	37	chr12	53189265	53189265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttgcccaatctgggggtCgatctccacattgaggggct	12	11	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:53189265C>T	uc001say.2	-	1	628	c.562G>A	c.(562-564)GAC>AAC	p.D188N		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	188	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						ATCTGGGGGTCGATCTCCACA	0.537													T	53189265	C	T	53189265	3	4	195	1	0	0	0	0	1	0	0	0	8466	884	31	1	1360	1	KRT3	12	53189265	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	179283	53189265	80662630	1095	108199											
TENC1	23371	broad.mit.edu	37	chr12	53448186	53448186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggccacctgcgcgagctGgcccatgtgctgcaatccaa	13	15	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:53448186G>A	uc001sbp.2	+	7	618	c.483G>A	c.(481-483)CTG>CTA	p.L161L	uc001sbk.1_RNA|TENC1_uc001sbl.2_Silent_p.L37L|TENC1_uc001sbm.2_Silent_p.L171L|TENC1_uc001sbn.2_Silent_p.L171L|TENC1_uc001sbo.1_Silent_p.L161L	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	161	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						TGCGCGAGCTGGCCCATGTGC	0.672													A	53448186	G	A	53448186	2	1	195	1	0	0	0	0	0	0	0	1	15755	1335	47	4		4	TENC1	12	53448186	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	258921	53448186	80403709	1096	108200											
ITGB7	3695	broad.mit.edu	37	chr12	53586138	53586138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggtctcactctgagcaCgaccgtgcctctggcgtcat	12	13	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:53586138C>T	uc009zmv.2	-	13	2202	c.2131G>A	c.(2131-2133)GTG>ATG	p.V711M	ITGB7_uc001scc.2_Missense_Mutation_p.V711M|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	711	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						ACTCTGAGCACGACCGTGCCT	0.562													T	53586138	C	T	53586138	3	4	195	1	0	0	0	0	1	0	0	0	7900	536	19	1	277	1	ITGB7	12	53586138	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	137952	53586138	80265757	1097	108201											
ESPL1	9700	broad.mit.edu	37	chr12	53679949	53679949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaacttcctgtcccattcAcccacctgtgactgctcgct	5	19	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:53679949A>G	uc001sck.2	+	18	3520	c.3429A>G	c.(3427-3429)TCA>TCG	p.S1143S	ESPL1_uc001scj.2_Silent_p.S818S|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1143					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			lung(1)|kidney(1)|skin(1)	3						TGTCCCATTCACCCACCTGTG	0.617													G	53679949	A	G	53679949	2	3	195	1	0	0	0	0	0	0	0	1	5253	146	6	3		3	ESPL1	12	53679949	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	93811	53679949	80171946	1098	108202											
AMHR2	269	broad.mit.edu	37	chr12	53818998	53818998	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggggctgttcctcctcctCctgctgctgctgggcagcat	12	15	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:53818998C>G	uc001scx.1	+	4	552	c.474C>G	c.(472-474)CTC>CTG	p.L158L	AMHR2_uc009zmy.1_Silent_p.L158L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	158	Helical; (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	TCCTCCTCCTCCTGCTGCTGC	0.582									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				G	53818998	C	G	53818998	2	3	195	1	0	0	0	0	0	0	0	1	573	842	30	5		5	AMHR2	12	53818998	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	139049	53818998	80032897	1099	108203											
MAP3K12	7786	broad.mit.edu	37	chr12	53877706	53877708	+	In_Frame_Del	DEL	CCT	CCT	-													ggaactcacctgagctcctcCctcctcctcatcaccagttc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:53877705_53877707CCCT>C	uc001sdn.2	-	7	1617_1619	c.1346_1348AGGG>G	c.(1345-1350)agggag>aGag	p.E451del	MAP3K12_uc001sdm.2_In_Frame_Del_p.E418del	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	418	Leucine-zipper 2.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|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						CTGAGCTCCTCCCTCCTCCTCAT	0.547													-	53877708	CCT	-	53877706	7	5	195	1	0	1	0	1	0	0	0	0	9246	622	22	0	1359	0	MAP3K12	12	53877706	In_Frame_Del	DEL	CCT	TCGA-CG-5728-01A-11D-1600-08	58708	53877706	79974189	1100	108204											
HOXC13	3229	broad.mit.edu	37	chr12	54338951	54338951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacgaacctctctgagCgccaggtaaccatctggttc	8	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:54338951C>T	uc001sei.2	+	2	1019	c.904C>T	c.(904-906)CGC>TGC	p.R302C	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	302	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CCTCTCTGAGCGCCAGGTAAC	0.572			T	NUP98	AML								T	54338951	C	T	54338951	3	4	195	1	0	0	0	0	1	0	0	0	7312	768	27	1	910	1	HOXC13	12	54338951	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	461245	54338951	79512944	1101	108205											
HOXC10	3226	broad.mit.edu	37	chr12	54379398	54379398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtacagcgcagagaagCgggcgaaaagtggccccgag	16	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:54379398C>T	uc001sen.2	+	1	453	c.355C>T	c.(355-357)CGG>TGG	p.R119W		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	119					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1						CGCAGAGAAGCGGGCGAAAAG	0.627													T	54379398	C	T	54379398	3	4	195	1	0	0	0	0	1	0	0	0	7309	759	27	1	357	1	HOXC10	12	54379398	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	40447	54379398	79472497	1102	108206											
HOXC5	3222	broad.mit.edu	37	chr12	54427288	54427288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcgcagacagggcagCccgccggactgagccagcca	15	15	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:54427288C>T	uc001sew.2	+	1	457	c.382C>T	c.(382-384)CCC>TCC	p.P128S	HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	128					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GACAGGGCAGCCCGCCGGACT	0.617													T	54427288	C	T	54427288	3	4	195	1	0	0	0	0	1	0	0	0	7314	739	26	2	384	2	HOXC5	12	54427288	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	47890	54427288	79424607	1103	108207											
HOXC5	3222	broad.mit.edu	37	chr12	54428259	54428259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagattccaaaatgaaaAgcaaagaggctctttagagg	10	5	1	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:54428259A>G	uc001sew.2	+	2	727	c.652A>G	c.(652-654)AGC>GGC	p.S218G	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	218					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CAAAATGAAAAGCAAAGAGGC	0.522													G	54428259	A	G	54428259	3	3	195	1	0	0	0	0	1	0	0	0	7314	72	3	3	658	3	HOXC5	12	54428259	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	971	54428259	79423636	1104	108208											
SMUG1	23583	broad.mit.edu	37	chr12	54576034	54576034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagagcccgtcgtgccCgctgctctgccagtcgccca	11	19	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:54576034C>T	uc001sff.1	-	4	788	c.659G>A	c.(658-660)CGG>CAG	p.R220Q	SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.R220Q|SMUG1_uc009znf.1_Missense_Mutation_p.R220Q|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	220					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						CCGTCGTGCCCGCTGCTCTGC	0.667								BER_DNA_glycosylases					T	54576034	C	T	54576034	3	4	195	1	0	0	0	0	1	0	0	0	14818	652	23	1	157	1	SMUG1	12	54576034	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	147775	54576034	79275861	1105	108209											
OR9K2	441639	broad.mit.edu	37	chr12	55524524	55524524	+	Frame_Shift_Del	DEL	A	A	-													aaagatgtccaagaggctctAaaaaaatttctagagaagaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:55524523_55524523TA>T	uc010spe.2	+	0	971	c.971_971TA>T	c.(970-972)ctafs	p.L324fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	324					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						CAAGAGGCTCTAAAAAAATTT	0.328													-	55524524	A	-	55524524	7	5	195	1	0	1	0	1	0	0	0	0	11254	349	13	0	974	0	OR9K2	12	55524524	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	948490	55524524	78327371	1106	108210											
PA2G4	5036	broad.mit.edu	37	chr12	56505302	56505303	+	Frame_Shift_Ins	INS	-	-	A													tcgaaaaacccagaaaaagaINSaaaaaaagaaggtgtgttat					rs149549286	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:56505301_56505302G>GA	uc001sjm.3	+	11	1526_1527	c.1107_1108G>GA	c.(1105-1110)aagaaafs	p.K369fs		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	369	Interaction with RNA (By similarity).|Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAGAAAAAGAAAAAAAAGAA	0.386													A	56505303	-	A	56505302	7	5	195	1	0	1	1	0	0	0	0	0	11361	247	9	0	1154	0	PA2G4	12	56505302	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	980778	56505302	77346593	1107	108211											
SMARCC2	6601	broad.mit.edu	37	chr12	56566437	56566438	+	Frame_Shift_Del	DEL	TC	TC	-													gttttgcatgtctgttggttTctctttgcctttgtcaggaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:56566436_56566437TTC>T	uc001skb.3	-	17	1808_1809	c.1702_1703GAA>A	c.(1702-1704)aaafs	p.K568fs	SMARCC2_uc001skd.3_Frame_Shift_Del_p.K599fs|SMARCC2_uc001ska.3_Frame_Shift_Del_p.K599fs|SMARCC2_uc001skc.3_Frame_Shift_Del_p.K598fs|SMARCC2_uc010sqf.2_Frame_Shift_Del_p.K488fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	568					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	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	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)			GTCTGTTGGTTTCTCTTTGCCT	0.495													-	56566438	TC	-	56566437	7	5	195	1	0	1	0	1	0	0	0	0	14776	1792	62	0	1986	0	SMARCC2	12	56566437	Frame_Shift_Del	DEL	TC	TCGA-CG-5728-01A-11D-1600-08	61135	56566437	77285458	1108	108212											
SLC39A5	283375	broad.mit.edu	37	chr12	56629008	56629008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctatccctgctgctgctGcggctcctgggacctcgtct	10	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:56629008G>A	uc010sqj.1	+	7	959	c.702G>A	c.(700-702)CTG>CTA	p.L234L	SLC39A5_uc010sqi.1_Silent_p.L125L|SLC39A5_uc010sqk.1_Silent_p.L234L	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	234	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TGCTGCTGCTGCGGCTCCTGG	0.637													A	56629008	G	A	56629008	2	1	195	1	0	0	0	0	0	0	0	1	14621	1306	46	2		2	SLC39A5	12	56629008	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	62571	56629008	77222887	1109	108213											
SLC39A5	283375	broad.mit.edu	37	chr12	56630979	56630979	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggctgtcctttcggcggcTgctgctgctgagcctcgtgt	15	12	0	1	rs145213363		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:56630979T>G	uc010sqj.1	+	12	1591	c.1334T>G	c.(1333-1335)CTG>CGG	p.L445R	SLC39A5_uc010sqk.1_Missense_Mutation_p.L445R	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	445	Helical; (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						TTTCGGCGGCTGCTGCTGCTG	0.642													G	56630979	T	G	56630979	3	3	195	1	0	0	0	0	1	0	0	0	14621	1580	55	5	1368	5	SLC39A5	12	56630979	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1971	56630979	77220916	1110	108214											
ANKRD52	283373	broad.mit.edu	37	chr12	56639302	56639302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggtgaatgggcgtgcGgcccttaaagtctcggcaca	15	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:56639302G>A	uc001skm.3	-	21	2353	c.2263C>T	c.(2263-2265)CGC>TGC	p.R755C		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	755	ANK 22.						protein binding			ovary(2)	2						ATGGGCGTGCGGCCCTTAAAG	0.632													A	56639302	G	A	56639302	3	1	195	1	0	0	0	0	1	0	0	0	678	1116	39	1	999	1	ANKRD52	12	56639302	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8323	56639302	77212593	1111	108215											
APOF	319	broad.mit.edu	37	chr12	56755073	56755073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattatggcccacccccagTagggagctgaacttactact	9	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:56755073T>C	uc001sle.1	-	2	971	c.917A>G	c.(916-918)TAC>TGC	p.Y306C		NM_001638	NP_001629	Q13790	APOF_HUMAN	apolipoprotein F precursor	306					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding				0						CCACCCCCAGTAGGGAGCTGA	0.443													C	56755073	T	C	56755073	3	2	195	1	0	0	0	0	1	0	0	0	803	1638	57	3	67	3	APOF	12	56755073	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	115771	56755073	77096822	1112	108216											
LRP1	4035	broad.mit.edu	37	chr12	57567028	57567028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgcatccccctgcggtggCgctgcgatggggacactgac	14	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:57567028C>T	uc001snd.2	+	21	3707	c.3241C>T	c.(3241-3243)CGC>TGC	p.R1081C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1081	Extracellular (Potential).|LDL-receptor class A 8.				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCGGTGGCGCTGCGATGG	0.627											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	57567028	C	T	57567028	3	4	195	1	0	0	0	0	1	0	0	0	8951	768	27	1	3323	1	LRP1	12	57567028	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	811955	57567028	76284867	1113	108217											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572243	+	Frame_Shift_Ins	INS	-	-	G													gtttgcagtgacgctgtacgINSggggggaggtctactggact					rs139915490		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:57572241_57572242C>CG	uc001snd.3	+	26	4927_4928	c.4461_4462C>CG	c.(4459-4464)tacgggfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	TGACGCTGTACGGGGGGGAGGT	0.589													G	57572243	-	G	57572242	7	5	195	1	0	1	1	0	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	5214	57572242	76279653	1114	108218											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	195	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	349159	57921401	75930494	1115	108219											
DTX3	196403	broad.mit.edu	37	chr12	58000970	58000970	+	Frame_Shift_Del	DEL	G	G	-													ctgatgggctgcctggctctGgggggtggaggggagcaccc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:58000969_58000969TG>T	uc001sow.1	+	4	660	c.323_323TG>T	c.(322-324)ctgfs	p.L108fs	DTX3_uc001sov.1_Frame_Shift_Del_p.L101fs|DTX3_uc001sox.1_Frame_Shift_Del_p.L101fs|DTX3_uc001soy.1_Frame_Shift_Del_p.L101fs|ARHGEF25_uc009zpy.3_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	108					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)					TGCCTGGCTCTGGGGGGTGGA	0.667													-	58000970	G	-	58000970	7	5	195	1	0	1	0	1	0	0	0	0	4795	1335	47	0	330	0	DTX3	12	58000970	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	79569	58000970	75850925	1116	108220											
CYP27B1	1594	broad.mit.edu	37	chr12	58157486	58157486	+	Frame_Shift_Del	DEL	G	G	-													gggaagagatgcaaatgggtGgggggtgggaccctccccca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:58157485_58157485TG>T	uc001spz.1	-	7	1474	c.1322_1322CA>A	c.(1321-1323)cacfs	p.H441fs	CYP27B1_uc001sqa.1_Frame_Shift_Del_p.H206fs	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	441					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.H441fs*33(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TGCAAATGGGTGGGGGGTGGG	0.577													-	58157486	G	-	58157486	7	5	195	1	0	1	0	1	0	0	0	0	4159	1348	47	0	213	0	CYP27B1	12	58157486	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	156516	58157486	75694409	1117	108221											
DPY19L2	283417	broad.mit.edu	37	chr12	63976277	63976277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcaagggcagtaaacActaacaactgcaatgtgtga	10	7	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:63976277A>G	uc001srp.1	-	18	1815	c.1634T>C	c.(1633-1635)GTG>GCG	p.V545A	DPY19L2_uc010sso.1_5'UTR	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	545	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGCAGTAAACACTAACAACTG	0.328													G	63976277	A	G	63976277	3	3	195	1	0	0	0	0	1	0	0	0	4741	159	6	3	662	3	DPY19L2	12	63976277	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	5818791	63976277	69875618	1118	108222											
DPY19L2	283417	broad.mit.edu	37	chr12	64061905	64061905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttttcccggagctgcGccagggaattacggacgaac	12	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:64061905G>A	uc001srp.1	-	1	450	c.269C>T	c.(268-270)GCG>GTG	p.A90V	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	90					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCGGAGCTGCGCCAGGGAATT	0.602													A	64061905	G	A	64061905	3	1	195	1	0	0	0	0	1	0	0	0	4741	1087	38	1	2095	1	DPY19L2	12	64061905	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	85628	64061905	69789990	1119	108223											
GRIP1	23426	broad.mit.edu	37	chr12	66990656	66990656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctcctcacagccaacGctccatcaggcggctttgtc	8	16	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:66990656G>A	uc001stk.2	-	2	348	c.107C>T	c.(106-108)GCG>GTG	p.A36V	GRIP1_uc010sta.1_Intron|GRIP1_uc001stm.2_Missense_Mutation_p.A36V	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	36					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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACAGCCAACGCTCCATCAGG	0.428													A	66990656	G	A	66990656	3	1	195	1	0	0	0	0	1	0	0	0	6787	1087	38	1	3215	1	GRIP1	12	66990656	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2928751	66990656	66861239	1120	108224											
CAND1	55832	broad.mit.edu	37	chr12	67706561	67706561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctatctttgaaagtaTccagaaagattcatcatcta	8	8	4	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:67706561T>C	uc001stn.2	+	15	4081	c.3644T>C	c.(3643-3645)ATC>ACC	p.I1215T	CAND1_uc001sto.2_Missense_Mutation_p.I725T	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	1215					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			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)		TTTGAAAGTATCCAGAAAGAT	0.423													C	67706561	T	C	67706561	3	2	195	1	0	0	0	0	1	0	0	0	2615	1435	50	3	3702	3	CAND1	12	67706561	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	715905	67706561	66145334	1121	108225											
YEATS4	8089	broad.mit.edu	37	chr12	69753804	69753804	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccggcgggagagtaaagGtcagtgcccggaccgcccct	14	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:69753804G>A	uc001sux.2	+	1	272	c.51_splice	c.e1+1	p.K17_splice		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41						histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GAGAGTAAAGGTCAGTGCCCG	0.662													A	69753804	G	A	69753804	5	1	195	1	0	0	0	0	0	0	1	0	17470	1275	44	4	54	4	YEATS4	12	69753804	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2047243	69753804	64098091	1122	108226											
TRHDE	29953	broad.mit.edu	37	chr12	73050744	73050744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaattccaaactcatcAgtggtgtcacagaatttctt	6	8	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:73050744A>G	uc001sxa.2	+	18	2917	c.2887A>G	c.(2887-2889)AGT>GGT	p.S963G		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	963	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CAAACTCATCAGTGGTGTCAC	0.259													G	73050744	A	G	73050744	3	3	195	1	0	0	0	0	1	0	0	0	16476	188	7	3	2957	3	TRHDE	12	73050744	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	3296940	73050744	60801151	1123	108227											
NAV3	89795	broad.mit.edu	37	chr12	78569092	78569092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctattgctagatcttcGcatcagaagacagcattcct	6	13	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:78569092G>A	uc001syp.2	+	25	5161	c.4988G>A	c.(4987-4989)CGC>CAC	p.R1663H	NAV3_uc001syo.2_Missense_Mutation_p.R1663H|NAV3_uc010sub.1_Missense_Mutation_p.R1149H|NAV3_uc009zsf.2_Missense_Mutation_p.R494H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1663						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTAGATCTTCGCATCAGAAGA	0.428										HNSCC(70;0.22)			A	78569092	G	A	78569092	3	1	195	1	0	0	0	0	1	0	0	0	10185	1087	38	1	5086	1	NAV3	12	78569092	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5518348	78569092	55282803	1124	108228											
TMTC2	160335	broad.mit.edu	37	chr12	83455558	83455558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttacagacaggctagccTcaatgaagcagctgagaagt	10	9	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:83455558T>C	uc001szt.2	+	11	2711	c.2279T>C	c.(2278-2280)CTC>CCC	p.L760P	TMTC2_uc010suk.1_Missense_Mutation_p.L515P	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	760	TPR 9.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CAGGCTAGCCTCAATGAAGCA	0.328													C	83455558	T	C	83455558	3	2	195	1	0	0	0	0	1	0	0	0	16258	1551	54	3	2321	3	TMTC2	12	83455558	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	4886466	83455558	50396337	1125	108229											
POC1B	282809	broad.mit.edu	37	chr12	89864258	89864258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgatatgcaattaacTccaccgctgtgaactgattt	8	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:89864258T>C	uc001tbc.2	-	7	795	c.690A>G	c.(688-690)GGA>GGG	p.G230G	POC1B_uc001tba.2_Silent_p.G188G|POC1B_uc001tbb.2_Silent_p.G100G|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_Intron	NM_172240	NP_758440	Q8TC44	POC1B_HUMAN	WD repeat domain 51B	230	WD 6.				cell projection organization	centriole|microtubule basal body				ovary(1)	1						TGCAATTAACTCCACCGCTGT	0.388													C	89864258	T	C	89864258	2	2	195	1	0	0	0	0	0	0	0	1	12176	1538	54	3		3	POC1B	12	89864258	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	6408700	89864258	43987637	1126	108230											
EEA1	8411	broad.mit.edu	37	chr12	93213103	93213103	+	Frame_Shift_Del	DEL	T	T	-													cttgctcctgtagtgtatggTttttttcttgtaactggtta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:93213102_93213102GT>G	uc001tck.3	-	13	1975	c.1710_1710AC>C	c.(1708-1710)aacfs	p.N570fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	570	Gln/Glu/Lys-rich.				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|GTP-dependent protein binding|calmodulin 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						GTAGTGTATGGTTTTTTTCTT	0.294													-	93213103	T	-	93213103	7	5	195	1	0	1	0	1	0	0	0	0	4921	1725	60	0	2590	0	EEA1	12	93213103	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	3348845	93213103	40638792	1127	108231											
NR2C1	7181	broad.mit.edu	37	chr12	95443007	95443007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgcaagagtgtcaaatGccctgtatgaagacatcaga	9	8	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:95443007G>A	uc001tdm.3	-	9	1224	c.968C>T	c.(967-969)GCA>GTA	p.A323V	NR2C1_uc010suu.1_Missense_Mutation_p.A323V|NR2C1_uc001tdo.3_Missense_Mutation_p.A323V|NR2C1_uc001tdn.3_Missense_Mutation_p.A323V	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	323					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1						AGTGTCAAATGCCCTGTATGA	0.423													A	95443007	G	A	95443007	3	1	195	1	0	0	0	0	1	0	0	0	10622	1319	46	2	945	2	NR2C1	12	95443007	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2229904	95443007	38408888	1128	108232											
FGD6	55785	broad.mit.edu	37	chr12	95604038	95604038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctactgtctgaattccccGgttcttcagtgctttcacta	7	12	4	1	rs150209312		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:95604038G>A	uc001tdp.3	-	2	1246	c.1022C>T	c.(1021-1023)CCG>CTG	p.P341L	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	341					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			ovary(2)|breast(1)	3						TGAATTCCCCGGTTCTTCAGT	0.413													A	95604038	G	A	95604038	3	1	195	1	0	0	0	0	1	0	0	0	5837	1116	39	1	3350	1	FGD6	12	95604038	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	161031	95604038	38247857	1129	108233											
AMDHD1	144193	broad.mit.edu	37	chr12	96350720	96350720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctcggctacctactgCggggctcattcagtgcctaa	11	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:96350720C>T	uc001tel.1	+	4	673	c.567C>T	c.(565-567)TGC>TGT	p.C189C	AMDHD1_uc009zth.1_Silent_p.C80C	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	189					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)	1						CTACCTACTGCGGGGCTCATT	0.597													T	96350720	C	T	96350720	2	4	195	1	0	0	0	0	0	0	0	1	567	776	27	1		1	AMDHD1	12	96350720	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	746682	96350720	37501175	1130	108234											
ELK3	2004	broad.mit.edu	37	chr12	96641215	96641215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgctgccagtatttcatcCgcctcacccttctcatctcg	5	17	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:96641215C>T	uc001teo.1	+	3	984	c.705C>T	c.(703-705)TCC>TCT	p.S235S		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	235					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			ovary(1)	1	all_cancers(2;0.00173)					GTATTTCATCCGCCTCACCCT	0.617													T	96641215	C	T	96641215	2	4	195	1	0	0	0	0	0	0	0	1	5060	639	23	1		1	ELK3	12	96641215	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	290495	96641215	37210680	1131	108235											
IGF1	3479	broad.mit.edu	37	chr12	102813396	102813396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccttagatcacagctcCggaagcagcactcatccacg	8	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:102813396C>T	uc001tjp.3	-	3	512	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	IGF1_uc001tjn.2_Missense_Mutation_p.R82Q|IGF1_uc001tjm.2_Missense_Mutation_p.R98Q|IGF1_uc001tjo.2_Missense_Mutation_p.R98Q	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	98	A.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						ATCACAGCTCCGGAAGCAGCA	0.597													T	102813396	C	T	102813396	3	4	195	1	0	0	0	0	1	0	0	0	7570	652	23	1	366	1	IGF1	12	102813396	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6172181	102813396	31038499	1132	108236											
HCFC2	29915	broad.mit.edu	37	chr12	104476625	104476625	+	Frame_Shift_Del	DEL	A	A	-													ggagtggaagagatggctacAaaaaagcactgaatagtcaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:104476624_104476624CA>C	uc001tkj.4	+	6	1111	c.1008_1008CA>C	c.(1006-1008)tacfs	p.Y336fs	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	336					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						GAGATGGCTACAAAAAAGCAC	0.383													-	104476625	A	-	104476625	7	5	195	1	0	1	0	1	0	0	0	0	6993	131	5	0	1035	0	HCFC2	12	104476625	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1663229	104476625	29375270	1133	108237											
KIAA1033	23325	broad.mit.edu	37	chr12	105540906	105540906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaattcgaacacatggcacGggaattatgaatacaactgt	8	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:105540906G>A	uc001tld.2	+	24	2583	c.2496G>A	c.(2494-2496)ACG>ACA	p.T832T	KIAA1033_uc010swr.1_Silent_p.T833T|KIAA1033_uc010sws.1_Silent_p.T644T	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	832					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						CACATGGCACGGGAATTATGA	0.353													A	105540906	G	A	105540906	2	1	195	1	0	0	0	0	0	0	0	1	8206	1103	39	1		1	KIAA1033	12	105540906	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1064281	105540906	28310989	1134	108238											
ASCL4	121549	broad.mit.edu	37	chr12	108169016	108169016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagacgcgtaaaccggcGgaacggctggccttgccata	14	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:108169016G>A	uc001tmr.2	+	1	855	c.24G>A	c.(22-24)GCG>GCA	p.A8A		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	7					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GTAAACCGGCGGAACGGCTGG	0.607													A	108169016	G	A	108169016	2	1	195	1	0	0	0	0	0	0	0	1	1036	1103	39	1		1	ASCL4	12	108169016	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2628110	108169016	25682879	1135	108239											
SELPLG	6404	broad.mit.edu	37	chr12	109017999	109017999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggggacccaaggctttctCggcttcatctgcccaggtgt	12	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:109017999C>T	uc001tni.2	-	2	245	c.85G>A	c.(85-87)GAG>AAG	p.E29K	SELPLG_uc001tnh.2_Missense_Mutation_p.E29K|SELPLG_uc010sxe.1_Missense_Mutation_p.E45K	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	29	Extracellular (Potential).			Missing (in Ref. 3; BAC05283).	blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						AAGGCTTTCTCGGCTTCATCT	0.572													T	109017999	C	T	109017999	3	4	195	1	0	0	0	0	1	0	0	0	14020	893	31	1	1131	1	SELPLG	12	109017999	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	848983	109017999	24833896	1136	108240											
ACACB	32	broad.mit.edu	37	chr12	109674983	109674983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacagtttgcagaagatcGcatttaccgtcacttggaac	8	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:109674983G>A	uc001tob.2	+	34	4579	c.4460G>A	c.(4459-4461)CGC>CAC	p.R1487H	ACACB_uc001toc.2_Missense_Mutation_p.R1487H|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R153H	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1487					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GCAGAAGATCGCATTTACCGT	0.557													A	109674983	G	A	109674983	3	1	195	1	0	0	0	0	1	0	0	0	107	1087	38	1	4590	1	ACACB	12	109674983	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	656984	109674983	24176912	1137	108241											
UBE3B	89910	broad.mit.edu	37	chr12	109972426	109972426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactctgggcagcgtcctcCggggcttcttcaccatccgc	10	17	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:109972426C>T	uc001top.2	+	28	3649	c.3046C>T	c.(3046-3048)CGG>TGG	p.R1016W	UBE3B_uc001toq.2_Missense_Mutation_p.R1016W|UBE3B_uc001tos.2_Missense_Mutation_p.R443W|UBE3B_uc001tot.2_Missense_Mutation_p.R134W|UBE3B_uc010sxp.1_3'UTR	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1016	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CAGCGTCCTCCGGGGCTTCTT	0.632													T	109972426	C	T	109972426	3	4	195	1	0	0	0	0	1	0	0	0	16877	643	23	1	3148	1	UBE3B	12	109972426	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	297443	109972426	23879469	1138	108242											
TRPV4	59341	broad.mit.edu	37	chr12	110238533	110238533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtagtgtttgcagcgaCgctcaatggcgatgtgcagg	14	10	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:110238533C>T	uc001tpj.1	-	4	838	c.743G>A	c.(742-744)CGT>CAT	p.R248H	TRPV4_uc001tpg.1_Missense_Mutation_p.R214H|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Missense_Mutation_p.R248H|TRPV4_uc001tpl.1_Missense_Mutation_p.R248H	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	248	Cytoplasmic (Potential).|ANK 1.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TTTGCAGCGACGCTCAATGGC	0.662													T	110238533	C	T	110238533	3	4	195	1	0	0	0	0	1	0	0	0	16595	536	19	1	1920	1	TRPV4	12	110238533	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	266107	110238533	23613362	1139	108243											
ANKRD13A	88455	broad.mit.edu	37	chr12	110457005	110457005	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtcaccaccgaacgcttCgacctttcccaagaaatgga	9	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:110457005C>T	uc001tpx.2	+	6	865	c.606C>T	c.(604-606)TTC>TTT	p.F202F	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Silent_p.F202F|ANKRD13A_uc010sxw.1_Silent_p.F202F	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	202											0						CCGAACGCTTCGACCTTTCCC	0.488													T	110457005	C	T	110457005	2	4	195	1	0	0	0	0	0	0	0	1	641	883	31	1		1	ANKRD13A	12	110457005	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	218472	110457005	23394890	1140	108244											
ATXN2	6311	broad.mit.edu	37	chr12	111954043	111954043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggggtctggatggccgCgaggggggcctggagggcgg	25	8	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:111954043C>T	uc001tsj.2	-	10	1932	c.1770G>A	c.(1768-1770)TCG>TCA	p.S590S	ATXN2_uc001tsh.2_Silent_p.S325S|ATXN2_uc001tsi.2_Silent_p.S301S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.S325S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	590	Pro-rich.				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			ovary(1)|breast(1)	2						TGGATGGCCGCGAGGGGGGCC	0.602													T	111954043	C	T	111954043	2	4	195	1	0	0	0	0	0	0	0	1	1211	755	27	1		1	ATXN2	12	111954043	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1497038	111954043	21897852	1141	108245											
NAA25	80018	broad.mit.edu	37	chr12	112513482	112513482	+	Splice_Site	DEL	T	T	-													aaaagaaagcttttactcacTtttttagtaagaggcgccgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:112513481_112513481CT>C	uc001ttm.3	-	8	834	c.776_splice	c.e8+1	p.N259_splice	NAA25_uc001ttn.4_Splice_Site|NAA25_uc009zvz.2_Splice_Site_p.N231_splice|NAA25_uc009zwa.2_Splice_Site_p.N259_splice	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	259						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						CTTTTACTCACTTTTTTAGTA	0.423													-	112513482	T	-	112513482	8	5	195	1	0	1	0	1	0	0	1	0	10121	1623	56	0	2210	0	NAA25	12	112513482	Splice_Site	DEL	T	TCGA-CG-5728-01A-11D-1600-08	559439	112513482	21338413	1142	108246											
C12orf51	283450	broad.mit.edu	37	chr12	112600860	112600861	+	Frame_Shift_Ins	INS	-	-	G													ggtacctgctgtgccatctgINSggggggcgatcttcatgggg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:112600859_112600860T>TG	uc021reb.1	-	74	13100_13101	c.12704_12705A>CA	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGTGCCATCTGGGGGGGCGAT	0.629													G	112600861	-	G	112600860	7	5	195	1	0	1	1	0	0	0	0	0	1696	1348	47	0	158	0	C12orf51	12	112600860	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	87378	112600860	21251035	1143	108247											
ANAPC5	51433	broad.mit.edu	37	chr12	121775094	121775094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattctgggaaagacttacCgcttcagcaaaatcaggatt	8	8	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:121775094C>T	uc001uag.2	-	6	881	c.759G>A	c.(757-759)GCG>GCA	p.A253A	ANAPC5_uc001uae.2_5'Flank|ANAPC5_uc010szv.1_5'Flank|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Silent_p.A154A|ANAPC5_uc001uai.1_5'UTR	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	253					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			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGACTTACCGCTTCAGCAA	0.303													T	121775094	C	T	121775094	2	4	195	1	0	0	0	0	0	0	0	1	605	666	23	1		1	ANAPC5	12	121775094	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	9174234	121775094	12076801	1144	108248											
KDM2B	84678	broad.mit.edu	37	chr12	122016853	122016853	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcggtcaatcgggcgcTgcgaggacccaaaccagaga	15	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:122016853T>C	uc001uat.2	-	2	231	c.127_splice	c.e2-1	p.R43_splice	KDM2B_uc001uas.2_Splice_Site_p.R12_splice|KDM2B_uc001uau.2_Splice_Site|KDM2B_uc001uav.3_Splice_Site_p.R43_splice	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform						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			ovary(1)|skin(1)	2						AATCGGGCGCTGCGAGGACCC	0.647													C	122016853	T	C	122016853	5	2	195	1	0	0	0	0	0	0	1	0	8125	1594	55	3	4025	3	KDM2B	12	122016853	Splice_Site	SNP	T	TCGA-CG-5728-01A-11D-1600-08	241759	122016853	11835042	1145	108249											
ZCCHC8	55596	broad.mit.edu	37	chr12	122975046	122975046	+	Frame_Shift_Del	DEL	T	T	-													aggaagtcttttccacatcaTttttctgctgttcctcaaat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:122975045_122975045AT>A	uc001ucn.3	-	3	543	c.387_387AT>T	c.(385-387)aatfs	p.N129fs	ZCCHC8_uc009zxp.3_5'UTR|ZCCHC8_uc009zxq.3_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	129						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)		TTTCCACATCATTTTTCTGCT	0.343													-	122975046	T	-	122975046	7	5	195	1	0	1	0	1	0	0	0	0	17591	1493	52	0	1781	0	ZCCHC8	12	122975046	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	958193	122975046	10876849	1146	108250											
RSRC2	65117	broad.mit.edu	37	chr12	122992836	122992836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttcattggattaacagCggctgggttatagtagctag	11	5	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:122992836C>T	uc001ucr.2	-	8	1110	c.964G>A	c.(964-966)GCT>ACT	p.A322T	RSRC2_uc001uco.2_Missense_Mutation_p.A91T|RSRC2_uc001ucp.2_Missense_Mutation_p.A263T|RSRC2_uc001ucq.2_Missense_Mutation_p.A90T|RSRC2_uc001ucs.2_Missense_Mutation_p.A91T|RSRC2_uc001uct.2_Missense_Mutation_p.A274T|RSRC2_uc001ucu.2_Missense_Mutation_p.A323T	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	322										ovary(1)	1	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)		GGATTAACAGCGGCTGGGTTA	0.448													T	122992836	C	T	122992836	3	4	195	1	0	0	0	0	1	0	0	0	13715	768	27	1	352	1	RSRC2	12	122992836	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	17790	122992836	10859059	1147	108251											
SBNO1	55206	broad.mit.edu	37	chr12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T													tcccatatcatatcttccatINStttttttggcattttgaaca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		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)		CATATCTTCCATTTTTTTTGGC	0.386													T	123794284	-	T	123794283	7	5	195	1	0	1	1	0	0	0	0	0	13862	1493	52	0	793	0	SBNO1	12	123794283	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	801447	123794283	10057612	1148	108252											
NOC4L	79050	broad.mit.edu	37	chr12	132632321	132632321	+	Frame_Shift_Del	DEL	C	C	-													gcccgggtcactggccagcaCcccgaggtgggtgatggggt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:132632320_132632320AC>A	uc001ujz.1	+	4	637	c.596_596AC>A	c.(595-597)cacfs	p.H199fs		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	199					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ACTGGCCAGCACCCCGAGGTG	0.687													-	132632321	C	-	132632321	7	5	195	1	0	1	0	1	0	0	0	0	10515	506	18	0	615	0	NOC4L	12	132632321	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	8838038	132632321	1219574	1149	108253											
P2RX2	22953	broad.mit.edu	37	chr12	133197083	133197083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagcgctgcacgttccacGaggcctccgacctctactgc	10	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:133197083G>A	uc001ukj.1	+	7	688	c.688G>A	c.(688-690)GAG>AAG	p.E230K	P2RX2_uc001uki.1_Missense_Mutation_p.E230K|P2RX2_uc001ukk.1_Missense_Mutation_p.E230K|P2RX2_uc001ukl.1_Missense_Mutation_p.E206K|P2RX2_uc001ukm.1_Missense_Mutation_p.E158K|P2RX2_uc001ukn.1_Missense_Mutation_p.E138K|P2RX2_uc009zyt.1_Missense_Mutation_p.E230K|P2RX2_uc001uko.1_Missense_Mutation_p.R194Q	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	230	Extracellular (Potential).				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				0	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)		CACGTTCCACGAGGCCTCCGA	0.627													A	133197083	G	A	133197083	3	1	195	1	0	0	0	0	1	0	0	0	11340	1059	37	1	714	1	P2RX2	12	133197083	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	564762	133197083	654812	1150	108254											
POLE	5426	broad.mit.edu	37	chr12	133256104	133256104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagcagagctgtgtacGcgtcgctggcgtgatcctgc	15	10	0	2	rs151325267	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:133256104G>A	uc001uks.1	-	6	601	c.557C>T	c.(556-558)GCG>GTG	p.A186V	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.A159V	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	186					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		AGCTGTGTACGCGTCGCTGGC	0.517								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133256104	G	A	133256104	3	1	195	1	0	0	0	0	1	0	0	0	12196	1087	38	1	6479	1	POLE	12	133256104	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	59021	133256104	595791	1151	108255											
ANKLE2	23141	broad.mit.edu	37	chr12	133319798	133319798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacaatcaaatggtgtgacGaaagcacgttgactacatct	8	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:133319798G>A	uc001ukx.2	-	6	1362	c.1295C>T	c.(1294-1296)TCG>TTG	p.S432L	ANKLE2_uc001uky.3_Missense_Mutation_p.S370L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	432	ANK.					cytoplasm|integral to membrane|nuclear envelope					0	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)		ATGGTGTGACGAAAGCACGTT	0.353													A	133319798	G	A	133319798	3	1	195	1	0	0	0	0	1	0	0	0	633	1059	37	1	1553	1	ANKLE2	12	133319798	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	63694	133319798	532097	1152	108256											
GOLGA3	2802	broad.mit.edu	37	chr12	133374948	133374948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgccctgcagctgtgccGcgatgcgccccttctccttc	9	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr12:133374948G>A	uc001ukz.1	-	9	2475	c.1916C>T	c.(1915-1917)GCG>GTG	p.A639V	GOLGA3_uc001ula.1_Missense_Mutation_p.A639V|GOLGA3_uc001ulb.2_Missense_Mutation_p.A639V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	639	Gln-rich.|Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		CAGCTGTGCCGCGATGCGCCC	0.577													A	133374948	G	A	133374948	3	1	195	1	0	0	0	0	1	0	0	0	6554	1087	38	1	2782	1	GOLGA3	12	133374948	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	55150	133374948	476947	1153	108257											
IFT88	8100	broad.mit.edu	37	chr13	21264849	21264849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcgtgttttcagatagtGgccagaactatagtgccagt	10	7	1	2	rs138716049		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:21264849G>A	uc001unh.2	+	27	2671	c.2275G>A	c.(2275-2277)GGC>AGC	p.G759S	IFT88_uc001uni.2_Missense_Mutation_p.G750S|IFT88_uc001unj.2_Missense_Mutation_p.G749S|IFT88_uc010tcq.1_Missense_Mutation_p.G730S	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	759					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		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)		TTCAGATAGTGGCCAGAACTA	0.348													A	21264849	G	A	21264849	3	1	195	1	0	0	0	0	1	0	0	0	7566	1348	47	4	2373	4	IFT88	13	21264849	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08		21264849	93905029	1154	108258											
PARP4	143	broad.mit.edu	37	chr13	25009229	25009229	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggaggagcagctgaaccGaaactagctacctgacgata	12	10	0	2	rs145651021	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:25009229G>A	uc001upl.2	-	31	4156	c.4050C>T	c.(4048-4050)TTC>TTT	p.F1350F		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1350					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			ovary(3)|skin(1)	4		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)		CAGCTGAACCGAAACTAGCTA	0.557													A	25009229	G	A	25009229	2	1	195	1	0	0	0	0	0	0	0	1	11463	1049	37	1		1	PARP4	13	25009229	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3744380	25009229	90160649	1155	108259											
ATP8A2	51761	broad.mit.edu	37	chr13	26273359	26273359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgaccttgggaatttgCtgggcaaggaaaatgacgtg	14	7	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:26273359C>T	uc001uqk.2	+	25	2402	c.2260C>T	c.(2260-2262)CTG>TTG	p.L754L	ATP8A2_uc010tdi.1_Silent_p.L714L|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.L304L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	714	Cytoplasmic (Potential).				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			ovary(2)|large_intestine(1)|skin(1)	4		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)		TGGGAATTTGCTGGGCAAGGA	0.488													T	26273359	C	T	26273359	2	4	195	1	0	0	0	0	0	0	0	1	1193	796	28	2		2	ATP8A2	13	26273359	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1264130	26273359	88896519	1156	108260											
WASF3	10810	broad.mit.edu	37	chr13	27255288	27255288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctatgcagctggtgacGtgccaccacacgggcctgca	11	15	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:27255288G>A	uc001uqv.2	+	8	1039	c.814G>A	c.(814-816)GTG>ATG	p.V272M	WASF3_uc001uqw.2_Missense_Mutation_p.V269M	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	272					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	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)		AGCTGGTGACGTGCCACCACA	0.632													A	27255288	G	A	27255288	3	1	195	1	0	0	0	0	1	0	0	0	17251	1145	40	1	836	1	WASF3	13	27255288	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	981929	27255288	87914590	1157	108261											
FRY	10129	broad.mit.edu	37	chr13	32705925	32705925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgggcatgaaattctttcGaattaagatgtatccagtgg	10	5	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:32705925G>A	uc001utx.2	+	8	1329	c.833G>A	c.(832-834)CGA>CAA	p.R278Q	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		AAATTCTTTCGAATTAAGATG	0.408													A	32705925	G	A	32705925	3	1	195	1	0	0	0	0	1	0	0	0	6063	1058	37	1	863	1	FRY	13	32705925	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5450637	32705925	82463953	1158	108262											
BRCA2	675	broad.mit.edu	37	chr13	32914985	32914985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaagacaaacaacagTtggtattaggaaccaaagtg	8	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:32914985T>C	uc001uub.1	+	11	6720	c.6493T>C	c.(6493-6495)TTG>CTG	p.L2165L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2165					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		CAAACAACAGTTGGTATTAGG	0.318			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32914985	T	C	32914985	2	2	195	1	0	0	0	0	0	0	0	1	1499	1722	60	3		3	BRCA2	13	32914985	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	209060	32914985	82254893	1159	108263											
BRCA2	675	broad.mit.edu	37	chr13	32954023	32954024	+	Frame_Shift_Ins	INS	-	-	A													acatacagttagcagcgacaINSaaaaaaactcagtatcaaca					rs67201695		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:32954022_32954023C>CA	uc001uub.1	+	22	9316_9317	c.9089_9090C>CA	c.(9088-9090)acafs	p.T3030fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3030					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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|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)		TTAGCAGCGACAAAAAAAACTC	0.312			"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)			A	32954024	-	A	32954023	7	5	195	1	0	1	1	0	0	0	0	0	1499	117	5	0	9176	0	BRCA2	13	32954023	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	39038	32954023	82215855	1160	108264											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017685	33017686	+	Frame_Shift_Ins	INS	-	-	T													aatgggttcatgtgagagatINSttttatctactatttctctc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:33017684_33017685A>AT	uc010abe.1	-	6	1011_1012	c.989_990T>AT	c.(988-990)aatfs	p.N330fs	N4BP2L2_uc001uug.2_Frame_Shift_Ins_p.N213fs|N4BP2L2_uc010abd.1_Frame_Shift_Ins_p.N243fs|N4BP2L2_uc001uuh.2_Frame_Shift_Ins_p.N161fs|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Frame_Shift_Ins_p.N315fs|N4BP2L2_uc021rhy.1_5'Flank	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	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)		CATGTGAGAGATTTTTATCTAC	0.361													T	33017686	-	T	33017685	7	5	195	1	0	1	1	0	0	0	0	0	10112	1493	52	0	1281	0	N4BP2L2	13	33017685	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	63662	33017685	82152193	1161	108265											
STARD13	90627	broad.mit.edu	37	chr13	33700225	33700225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacagccctacctgatcgAggcagttgctgcgtagatat	11	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:33700225A>G	uc001uuw.2	-	7	2201	c.2075T>C	c.(2074-2076)CTC>CCC	p.L692P	STARD13_uc001uuu.2_Missense_Mutation_p.L684P|STARD13_uc001uuv.2_Missense_Mutation_p.L574P|STARD13_uc001uux.2_Missense_Mutation_p.L657P|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	692	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	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)		TACCTGATCGAGGCAGTTGCT	0.557													G	33700225	A	G	33700225	3	3	195	1	0	0	0	0	1	0	0	0	15255	304	11	3	1298	3	STARD13	13	33700225	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	682540	33700225	81469653	1162	108266											
DCLK1	9201	broad.mit.edu	37	chr13	36396959	36396959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacagcatcccactggcGtctctctcggtgtatttgtt	9	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:36396959G>A	uc001uvf.2	-	11	1694	c.1461C>T	c.(1459-1461)GAC>GAT	p.D487D	DCLK1_uc001uve.3_Silent_p.D180D|DCLK1_uc010teh.1_Silent_p.D180D|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	487	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			stomach(6)|ovary(2)|skin(1)	9		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)		TCCCACTGGCGTCTCTCTCGG	0.507													A	36396959	G	A	36396959	2	1	195	1	0	0	0	0	0	0	0	1	4291	1136	40	1		1	DCLK1	13	36396959	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2696734	36396959	78772919	1163	108267											
FAM48A	55578	broad.mit.edu	37	chr13	37599472	37599472	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacatctgtttctttcccTggagaaacctgactcagact	6	13	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:37599472T>C	uc001uwg.2	-	17	1562	c.1314A>G	c.(1312-1314)CCA>CCG	p.P438P	FAM48A_uc010abt.2_Silent_p.P439P|FAM48A_uc001uwh.2_Silent_p.P439P|FAM48A_uc001uwi.2_Silent_p.P438P|FAM48A_uc001uwj.2_Silent_p.P439P|FAM48A_uc001uwk.2_Silent_p.P438P|FAM48A_uc010tes.1_Silent_p.P402P|FAM48A_uc001uwl.1_Silent_p.P438P|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'Flank|FAM48A_uc001uwf.2_Silent_p.P16P	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	438					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTTCTTTCCCTGGAGAAACCT	0.393													C	37599472	T	C	37599472	2	2	195	1	0	0	0	0	0	0	0	1	5572	1567	55	3		3	FAM48A	13	37599472	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1202513	37599472	77570406	1164	108268											
NAA16	79612	broad.mit.edu	37	chr13	41894849	41894849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgataaaaaatatgaTgaagctataaaatgttaccg	7	5	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:41894849T>C	uc001uyf.2	+	4	615	c.291T>C	c.(289-291)GAT>GAC	p.D97D	NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Silent_p.D97D|NAA16_uc001uyd.3_Silent_p.D97D	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	97	TPR 2.				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						AAAAATATGATGAAGCTATAA	0.353													C	41894849	T	C	41894849	2	2	195	1	0	0	0	0	0	0	0	1	10119	1461	51	3		3	NAA16	13	41894849	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	4295377	41894849	73275029	1165	108269											
AKAP11	11215	broad.mit.edu	37	chr13	42873557	42873557	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccagacggttactggTcatcatttagaaacccatga	8	11	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:42873557T>C	uc001uys.1	+	8	850	c.675T>C	c.(673-675)GGT>GGC	p.G225G		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	225					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		CGGTTACTGGTCATCATTTAG	0.398													C	42873557	T	C	42873557	2	2	195	1	0	0	0	0	0	0	0	1	447	1654	58	3		3	AKAP11	13	42873557	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	978708	42873557	72296321	1166	108270											
ENOX1	55068	broad.mit.edu	37	chr13	43930086	43930086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagcagagcggcttcGtgctccgagtagtgcattat	12	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:43930086G>A	uc001uza.3	-	8	1092	c.792C>T	c.(790-792)CAC>CAT	p.H264H	ENOX1_uc001uzb.3_Silent_p.H264H|ENOX1_uc001uzc.3_Silent_p.H264H|ENOX1_uc001uyz.3_Translation_Start_Site|ENOX1_uc010tfm.1_Silent_p.H77H	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	264					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		GAGCGGCTTCGTGCTCCGAGT	0.637													A	43930086	G	A	43930086	2	1	195	1	0	0	0	0	0	0	0	1	5126	1136	40	1		1	ENOX1	13	43930086	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1056529	43930086	71239792	1167	108271											
CPB2	1361	broad.mit.edu	37	chr13	46661878	46661878	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataaattagggagaaattAcctcatatgttgtagtaaga	8	4	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:46661878A>G	uc001vaw.2	-	2	217	c.150_splice	c.e2+1	p.E50_splice	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Splice_Site_p.E50_splice	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a						blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		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)		GGGAGAAATTACCTCATATGT	0.383													G	46661878	A	G	46661878	5	3	195	1	0	0	0	0	0	0	1	0	3797	405	14	3	1159	3	CPB2	13	46661878	Splice_Site	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2731792	46661878	68508000	1168	108272											
FAM124A	220108	broad.mit.edu	37	chr13	51854975	51854975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatcgatgacctagagggGgcccaggagacagacgtgga	15	10	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:51854975G>T	uc001vfg.1	+	4	1355	c.1224G>T	c.(1222-1224)GGG>GGT	p.G408G	FAM124A_uc001vff.1_Silent_p.G444G	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	408										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ACCTAGAGGGGGCCCAGGAGA	0.597													T	51854975	G	T	51854975	2	4	195	1	0	0	0	0	0	0	0	1	5425	1219	43	5		5	FAM124A	13	51854975	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5193097	51854975	63314903	1169	108273											
THSD1	55901	broad.mit.edu	37	chr13	52960165	52960165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcaagaatacctaccaGcacactcctccagggaacac	8	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:52960165G>A	uc001vgo.2	-	4	1723	c.1178C>T	c.(1177-1179)GCT>GTT	p.A393V	THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_Missense_Mutation_p.A14V|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	393	Extracellular (Potential).|TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		ATACCTACCAGCACACTCCTC	0.552													A	52960165	G	A	52960165	3	1	195	1	0	0	0	0	1	0	0	0	15874	971	34	2	1388	2	THSD1	13	52960165	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1105190	52960165	62209713	1170	108274											
SCEL	8796	broad.mit.edu	37	chr13	78176201	78176201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccaatgttgtaaagaAtccaaagccttggaagtccg	8	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:78176201A>G	uc001vki.2	+	16	1089	c.919A>G	c.(919-921)ATC>GTC	p.I307V	SCEL_uc001vkj.2_Missense_Mutation_p.I287V|SCEL_uc010thx.1_Missense_Mutation_p.I285V	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	307	16 X approximate tandem repeats.|4.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTTGTAAAGAATCCAAAGCCT	0.398													G	78176201	A	G	78176201	3	3	195	1	0	0	0	0	1	0	0	0	13888	115	4	3	977	3	SCEL	13	78176201	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	25216036	78176201	36993677	1171	108275											
SLAIN1	122060	broad.mit.edu	37	chr13	78318470	78318470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatctatcgacagtgaGctgagtacttcagaattgga	10	8	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:78318470G>A	uc010thy.1	+	3	370	c.327G>A	c.(325-327)GAG>GAA	p.E109E	SLAIN1_uc001vkk.1_Silent_p.E32E|SLAIN1_uc001vkl.1_5'UTR|SLAIN1_uc010thz.1_5'UTR|SLAIN1_uc010aex.1_5'UTR|SLAIN1_uc010aey.1_5'UTR|SLAIN1_uc001vkm.2_5'UTR	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	251										ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TCGACAGTGAGCTGAGTACTT	0.453													A	78318470	G	A	78318470	2	1	195	1	0	0	0	0	0	0	0	1	14365	962	34	2		2	SLAIN1	13	78318470	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	142269	78318470	36851408	1172	108276											
SLITRK5	26050	broad.mit.edu	37	chr13	88329581	88329581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtccggttgaatagcacCggggcccccgcgagcttggg	17	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:88329581C>T	uc001vln.2	+	2	2157	c.1938C>T	c.(1936-1938)ACC>ACT	p.T646T	SLITRK5_uc010tic.1_Silent_p.T405T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	646	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGAATAGCACCGGGGCCCCCG	0.612													T	88329581	C	T	88329581	2	4	195	1	0	0	0	0	0	0	0	1	14746	639	23	1		1	SLITRK5	13	88329581	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	10011111	88329581	26840297	1173	108277											
SLITRK5	26050	broad.mit.edu	37	chr13	88330397	88330397	+	Frame_Shift_Del	DEL	C	C	-													cgggaaccggtgctctacagCcccccgagtgctgtctttgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:88330396_88330396GC>G	uc001vln.3	+	1	2972	c.2753_2753GC>G	c.(2752-2754)agcfs	p.S918fs	SLITRK5_uc010tic.1_Frame_Shift_Del_p.S677fs|SLITRK5_uc021rlc.1_Frame_Shift_Del_p.S918fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	918						integral to membrane		p.S918I(2)		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)					GTGCTCTACAGCCCCCCGAGT	0.542													-	88330397	C	-	88330397	7	5	195	1	0	1	0	1	0	0	0	0	14746	738	26	0	2756	0	SLITRK5	13	88330397	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	816	88330397	26839481	1174	108278											
GPC5	2262	broad.mit.edu	37	chr13	92345891	92345891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagatgcaatactgccCgcactgccaaggcctggcgc	11	15	0	2	rs141328977		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:92345891C>A	uc010tif.1	+	3	1142	c.776C>A	c.(775-777)CCG>CAG	p.P259Q		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	259						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAATACTGCCCGCACTGCCAA	0.552													A	92345891	C	A	92345891	3	1	195	1	0	0	0	0	1	0	0	0	6601	652	23	5	786	5	GPC5	13	92345891	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4015494	92345891	22823987	1175	108279											
ABCC4	10257	broad.mit.edu	37	chr13	95714990	95714990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacatcttcttccttaaatCgtgaagtccaatttcagttg	6	9	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:95714990C>T	uc001vmd.3	-	26	3453	c.3334G>A	c.(3334-3336)GAT>AAT	p.D1112N	ABCC4_uc010afj.2_5'UTR|ABCC4_uc010afk.2_Missense_Mutation_p.D1065N	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	1112	ABC transporter 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			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCCTTAAATCGTGAAGTCCA	0.383													T	95714990	C	T	95714990	3	4	195	1	0	0	0	0	1	0	0	0	55	884	31	1	667	1	ABCC4	13	95714990	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3369099	95714990	19454888	1176	108280											
ABCC4	10257	broad.mit.edu	37	chr13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-													tcacatctcttgacgtttccAaaaaatatcgccgaagaaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:95735431_95735431CA>C	uc001vmd.4	-	20	2768	c.2649_2649TG>G	c.(2647-2649)ttgfs	p.L883fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	883	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)	TTGACGTTTCCAAAAAATATC	0.438													-	95735432	A	-	95735432	7	5	195	1	0	1	0	1	0	0	0	0	55	131	5	0	1373	0	ABCC4	13	95735432	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	20442	95735432	19434446	1177	108281											
DZIP1	22873	broad.mit.edu	37	chr13	96241464	96241464	+	Splice_Site	DEL	A	A	-													atgacatttttcttaattctAaaaaaacaacagaaaaatat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:96241463_96241463TA>T	uc001vmk.3	-	19	2826	c.1974_splice	c.e19-1	p.K658_splice	DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	658					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)			TTCTTAATTCTAAAAAAACAA	0.279													-	96241464	A	-	96241464	8	5	195	1	0	1	0	1	0	0	1	0	4863	377	13	0		0	DZIP1	13	96241464	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	506032	96241464	18928414	1178	108282											
UGGT2	55757	broad.mit.edu	37	chr13	96529620	96529620	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttaattgaaaataccccTtttaagatgagaaaaaaata	4	5	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:96529620T>C	uc001vmt.2	-	29	3558	c.3388_splice	c.e29-1	p.G1130_splice	UGGT2_uc001vmu.1_3'UTR	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AAAATACCCCTTTTAAGATGA	0.318													C	96529620	T	C	96529620	5	2	195	1	0	0	0	0	0	0	1	0	16939	1623	56	3	1208	3	UGGT2	13	96529620	Splice_Site	SNP	T	TCGA-CG-5728-01A-11D-1600-08	288156	96529620	18640258	1179	108283											
FARP1	10160	broad.mit.edu	37	chr13	99087849	99087849	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgctttggcagagatcacGgagatggtggcacagctcca	14	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:99087849G>T	uc001vnj.2	+	19	2499	c.2163G>T	c.(2161-2163)ACG>ACT	p.T721T	FARP1_uc001vnh.2_Silent_p.T721T	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	721	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAGATCACGGAGATGGTGG	0.522													T	99087849	G	T	99087849	2	4	195	1	0	0	0	0	0	0	0	1	5676	1103	39	5		5	FARP1	13	99087849	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2558229	99087849	16082029	1180	108284											
DOCK9	23348	broad.mit.edu	37	chr13	99515326	99515326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacattgatccgctggaCgttttcaatcagcagaccaa	7	13	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:99515326C>T	uc001vnt.2	-	32	3584	c.3529G>A	c.(3529-3531)GTC>ATC	p.V1177I	DOCK9_uc001vnw.2_Missense_Mutation_p.V1176I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.V1177I|DOCK9_uc010tis.1_Missense_Mutation_p.V1176I|DOCK9_uc010tit.1_Missense_Mutation_p.V1177I|DOCK9_uc010tiq.1_Missense_Mutation_p.V155I|DOCK9_uc010afu.1_Missense_Mutation_p.V1023I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1177					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCGCTGGACGTTTTCAATC	0.517													T	99515326	C	T	99515326	3	4	195	1	0	0	0	0	1	0	0	0	4694	536	19	1	2841	1	DOCK9	13	99515326	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	427477	99515326	15654552	1181	108285											
DOCK9	23348	broad.mit.edu	37	chr13	99536156	99536156	+	Splice_Site	DEL	A	A	-													aatttccggaccataatgctAaaaaaaatatggaagaaaca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:99536155_99536155TA>T	uc001vnt.2	-	22	2441	c.2386_splice	c.e22-1	p.H796_splice	DOCK9_uc001vnw.2_Splice_Site_p.H795_splice|DOCK9_uc021rlw.1_Splice_Site_p.H795_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.H796_splice|DOCK9_uc010tis.1_Splice_Site_p.H795_splice|DOCK9_uc010tit.1_Splice_Site_p.H796_splice|DOCK9_uc010afu.1_Splice_Site_p.H642_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	796	DHR-1.				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)					ACCATAATGCTAAAAAAAATA	0.403													-	99536156	A	-	99536156	8	5	195	1	0	1	0	1	0	0	1	0	4694	377	13	0		0	DOCK9	13	99536156	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	20830	99536156	15633722	1182	108286											
TMTC4	84899	broad.mit.edu	37	chr13	101277913	101277913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgcctagattcatccacGcagcggcaaagtctggccta	9	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:101277913G>A	uc001vou.2	-	14	1815	c.1655C>T	c.(1654-1656)GCG>GTG	p.A552V	TMTC4_uc001vot.2_Missense_Mutation_p.A571V|TMTC4_uc010tja.1_Missense_Mutation_p.A441V|TMTC4_uc001vov.1_Missense_Mutation_p.A297V|TMTC4_uc001vow.1_Missense_Mutation_p.A335V	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	552	TPR 4.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTCATCCACGCAGCGGCAAA	0.453													A	101277913	G	A	101277913	3	1	195	1	0	0	0	0	1	0	0	0	16260	1087	38	1	590	1	TMTC4	13	101277913	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1741757	101277913	13891965	1183	108287											
COL4A1	1282	broad.mit.edu	37	chr13	110838866	110838867	+	Frame_Shift_Ins	INS	-	-	G													tgggaatccaactcctccagINSgggggccacgctctcctttc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:110838865_110838866A>AG	uc001vqw.4	-	25	1885_1886	c.1763_1764T>CT	c.(1762-1764)cctfs	p.P588fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	588	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)			CAACTCCTCCAGGGGGGCCACG	0.554													G	110838867	-	G	110838866	7	5	195	1	0	1	1	0	0	0	0	0	3689	1000	35	0	3354	0	COL4A1	13	110838866	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	9560953	110838866	4331012	1184	108288											
COL4A2	1284	broad.mit.edu	37	chr13	111109772	111109772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcccgcggaccaaaGgggtggaaaggtaagaacat	15	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:111109772G>T	uc001vqx.2	+	21	1711	c.1422G>T	c.(1420-1422)AAG>AAT	p.K474N		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	474	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			GCGGACCAAAGGGGTGGAAAG	0.582													T	111109772	G	T	111109772	3	4	195	1	0	0	0	0	1	0	0	0	3690	991	35	5	1500	5	COL4A2	13	111109772	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	270906	111109772	4060106	1185	108289											
MCF2L	23263	broad.mit.edu	37	chr13	113740563	113740563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgctatcaccggctatgaCgtaaggcgcccagatgcccg	11	14	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:113740563C>T	uc001vsu.2	+	21	2566	c.2544C>T	c.(2542-2544)GAC>GAT	p.D848D	MCF2L_uc001vsq.2_Silent_p.D848D|MCF2L_uc010tjr.1_Silent_p.D791D|MCF2L_uc001vsr.2_Silent_p.D795D|MCF2L_uc001vss.3_Silent_p.D789D|MCF2L_uc010tjs.1_Silent_p.D789D|MCF2L_uc001vst.1_Silent_p.D753D	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	821					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			ovary(1)|kidney(1)	2	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)				CCGGCTATGACGTAAGGCGCC	0.652													T	113740563	C	T	113740563	2	4	195	1	0	0	0	0	0	0	0	1	9379	550	19	1		1	MCF2L	13	113740563	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2630791	113740563	1429315	1186	108290											
F10	2159	broad.mit.edu	37	chr13	113803259	113803259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggagcaggaggagggcGgtgaggcggtgcacgaggtg	22	7	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:113803259G>A	uc001vsx.2	+	8	952	c.895G>A	c.(895-897)GGT>AGT	p.G299S	F10_uc001vsy.2_Silent_p.A295A|F10_uc001vsz.2_Silent_p.A297A	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	299	Peptidase S1.				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			pancreas(1)	1	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)	GGAGGAGGGCGGTGAGGCGGT	0.602													A	113803259	G	A	113803259	3	1	195	1	0	0	0	0	1	0	0	0	5336	1116	39	1	925	1	F10	13	113803259	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	62696	113803259	1366619	1187	108291											
PCID2	55795	broad.mit.edu	37	chr13	113833353	113833353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgcatgaacttcaagGcaaccagaaaagcatccaga	7	13	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:113833353G>A	uc010tju.1	-	13	1118	c.1037C>T	c.(1036-1038)GCC>GTC	p.A346V	PCID2_uc001vtb.2_Missense_Mutation_p.A179V|PCID2_uc010tjv.1_Missense_Mutation_p.A346V|PCID2_uc010tjw.1_Missense_Mutation_p.A346V|PCID2_uc001vte.2_Missense_Mutation_p.A239V|PCID2_uc001vtd.2_Missense_Mutation_p.A239V|PCID2_uc001vtf.2_Missense_Mutation_p.A239V	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	346	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GAACTTCAAGGCAACCAGAAA	0.458													A	113833353	G	A	113833353	3	1	195	1	0	0	0	0	1	0	0	0	11579	1203	42	2	170	2	PCID2	13	113833353	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	30094	113833353	1336525	1188	108292											
GAS6	2621	broad.mit.edu	37	chr13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-													tacctttgtcgcagagccggCccccccagccagctttacac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr13:114542717_114542717GC>G	uc001vud.3	-	4	603	c.450_450GC>C	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; 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	Golgi lumen|endoplasmic reticulum lumen|extracellular space|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)				CGCAGAGCCGGCCCCCCCAGC	0.647													-	114542718	C	-	114542718	7	5	195	1	0	1	0	1	0	0	0	0	6249	739	26	0	1631	0	GAS6	13	114542718	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	709365	114542718	627160	1189	108293											
POTEG	404785	broad.mit.edu	37	chr14	19553784	19553784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcccttggggagactAcgacgacagcgctttcatgg	15	10	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:19553784A>G	uc001vuz.1	+	1	420	c.368A>G	c.(367-369)TAC>TGC	p.Y123C	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	123										ovary(1)	1						TGGGGAGACTACGACGACAGC	0.592													G	19553784	A	G	19553784	3	3	195	1	0	0	0	0	1	0	0	0	12266	391	14	3	370	3	POTEG	14	19553784	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08		19553784	87795756	1190	108294											
PARP2	10038	broad.mit.edu	37	chr14	20813247	20813247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagaagacaagcaagatgGtatgccaggaaggtcatggg	15	6	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:20813247G>A	uc001vxc.2	+	2	231	c.203G>A	c.(202-204)GGT>GAT	p.G68D	RPPH1_uc001vxa.1_5'Flank|PARP2_uc001vxd.2_Splice_Site_p.E68_splice|PARP2_uc001vxb.1_Missense_Mutation_p.G68D	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	68	Potential.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	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)		AAGCAAGATGGTATGCCAGGA	0.478								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					A	20813247	G	A	20813247	3	1	195	1	0	0	0	0	1	0	0	0	11461	1275	44	4	209	4	PARP2	14	20813247	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1259463	20813247	86536293	1191	108295											
TMEM55B	90809	broad.mit.edu	37	chr14	20928395	20928395	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgttgggatgtcactttgcaGataaggagacagttacaggg	14	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:20928395G>T	uc001vxl.2	-	3	549	c.396C>A	c.(394-396)ATC>ATA	p.I132I	TMEM55B_uc001vxk.2_Silent_p.I139I	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	132						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	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)		TCACTTTGCAGATAAGGAGAC	0.483													T	20928395	G	T	20928395	2	4	195	1	0	0	0	0	0	0	0	1	16179	932	33	5		5	TMEM55B	14	20928395	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	115148	20928395	86421145	1192	108296											
TPPP2	122664	broad.mit.edu	37	chr14	21498712	21498712	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccccaagtgtctcccaCgactgccctccccgacctct	5	22	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:21498712C>T	uc001vzh.2	+	2	160	c.-28C>T	c.(-30--26)CACGA>CATGA		NDRG2_uc010tll.1_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family							cytoplasm					0	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;0.0191)		GTGTCTCCCACGACTGCCCTC	0.527													T	21498712	C	T	21498712	1	4	195	1	0	0	0	0	0	0	0	0	16411	551	19	1		1	TPPP2	14	21498712	Translation_Start_Site	SNP	C	TCGA-CG-5728-01A-11D-1600-08	570317	21498712	85850828	1193	108297											
CHD8	57680	broad.mit.edu	37	chr14	21871355	21871355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctctaactcgcccatcaaTacgttcatataagtacctgt	5	13	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:21871355T>C	uc001was.1	-	18	2792	c.2698A>G	c.(2698-2700)ATT>GTT	p.I900V	CHD8_uc001war.1_Missense_Mutation_p.I796V|CHD8_uc001wav.1_Missense_Mutation_p.I342V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1179	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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGCCCATCAATACGTTCATAT	0.483													C	21871355	T	C	21871355	3	2	195	1	0	0	0	0	1	0	0	0	3331	1406	49	3	4294	3	CHD8	14	21871355	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	372643	21871355	85478185	1194	108298											
ACIN1	22985	broad.mit.edu	37	chr14	23532172	23532172	+	Frame_Shift_Del	DEL	C	C	-													ggacaatgttgctaatcttgCcccggggtggggagggcacc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:23532171_23532171GC>G	uc001wit.4	-	13	3352	c.3024_3024GC>C	c.(3022-3024)ggcfs	p.G1008fs	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.G250fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.G250fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.G281fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.G689fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.G995fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.G968fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1008					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)		TGCTAATCTTGCCCCGGGGTG	0.488													-	23532172	C	-	23532172	7	5	195	1	0	1	0	1	0	0	0	0	142	739	26	0	1026	0	ACIN1	14	23532172	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	1660817	23532172	83817368	1195	108299											
ACIN1	22985	broad.mit.edu	37	chr14	23549510	23549510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtttgctctggcagcGctacaagtgaggccttcttt	12	10	2	1	rs12589748	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:23549510G>A	uc001wit.3	-	6	1536	c.1208C>T	c.(1207-1209)GCG>GTG	p.A403V	ACIN1_uc001wis.3_Missense_Mutation_p.A85V|ACIN1_uc010akg.2_Missense_Mutation_p.A403V|ACIN1_uc010tnj.1_Missense_Mutation_p.A363V	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	403	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCTGGCAGCGCTACAAGTGA	0.478													A	23549510	G	A	23549510	3	1	195	1	0	0	0	0	1	0	0	0	142	1087	38	1	3020	1	ACIN1	14	23549510	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	17338	23549510	83800030	1196	108300											
CPNE6	9362	broad.mit.edu	37	chr14	24546935	24546935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgactcccagccctagccCgtgactgcctccctccggac	8	20	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:24546935C>T	uc001wll.2	+	16	1769	c.1670C>T	c.(1669-1671)CCG>CTG	p.P557L	CPNE6_uc010tnv.1_Missense_Mutation_p.P612L|CPNE6_uc001wlm.2_Missense_Mutation_p.P382L|CPNE6_uc001wln.2_3'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	557					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		AGCCCTAGCCCGTGACTGCCT	0.657													T	24546935	C	T	24546935	3	4	195	1	0	0	0	0	1	0	0	0	3816	652	23	1	1728	1	CPNE6	14	24546935	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	997425	24546935	82802605	1197	108301											
PSME2	5721	broad.mit.edu	37	chr14	24613431	24613431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctggaaagcttccactTtggtcttgacggcattcacc	9	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:24613431T>C	uc001wmj.2	-	8	532	c.467A>G	c.(466-468)AAA>AGA	p.K156R	FAM158A_uc001wmi.2_5'Flank|PSME2_uc001wmk.2_Missense_Mutation_p.K79R|RNF31_uc001wml.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	proteasome activator subunit 2	156					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					0				GBM - Glioblastoma multiforme(265;0.00839)		AGCTTCCACTTTGGTCTTGAC	0.542													C	24613431	T	C	24613431	3	2	195	1	0	0	0	0	1	0	0	0	12707	1841	64	3	268	3	PSME2	14	24613431	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	66496	24613431	82736109	1198	108302											
FOXG1	2290	broad.mit.edu	37	chr14	29237480	29237480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagttacaacggcaccacgtCggcctaccccagccacccca	8	19	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:29237480C>T	uc001wqe.2	+	1	1194	c.995C>T	c.(994-996)TCG>TTG	p.S332L		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	332					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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCACCACGTCGGCCTACCCC	0.647													T	29237480	C	T	29237480	3	4	195	1	0	0	0	0	1	0	0	0	6007	893	31	1	997	1	FOXG1	14	29237480	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4624049	29237480	78112060	1199	108303											
EAPP	55837	broad.mit.edu	37	chr14	34998660	34998661	+	Frame_Shift_Ins	INS	-	-	T													aatcttgtgttgtttcttctINStttttttcttggtcacctgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:34998659_34998660C>CT	uc001wsd.1	-	3	483_484	c.374_375G>AG	c.(373-375)aagfs	p.K125fs		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	125	Poly-Lys.				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GTTGTTTCTTCTTTTTTTTCTT	0.366													T	34998661	-	T	34998660	7	5	195	1	0	1	1	0	0	0	0	0	4877	1609	56	0	495	0	EAPP	14	34998660	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	5761180	34998660	72350880	1200	108304											
BRMS1L	84312	broad.mit.edu	37	chr14	36300660	36300660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaagaatggaatgtttgGatgaaatgtccaatcttgaa	11	3	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:36300660G>A	uc001wtl.2	+	2	313	c.187G>A	c.(187-189)GAT>AAT	p.D63N	BRMS1L_uc010tpx.1_Missense_Mutation_p.D15N	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	63	Potential.				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	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)		GGAATGTTTGGATGAAATGTC	0.318													A	36300660	G	A	36300660	3	1	195	1	0	0	0	0	1	0	0	0	1517	1174	41	4	193	4	BRMS1L	14	36300660	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1302000	36300660	71048880	1201	108305											
MBIP	51562	broad.mit.edu	37	chr14	36780790	36780790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcttacctgtctgtaacCgcaagtgggcctcaatattt	8	10	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:36780790C>T	uc001wtm.2	-	6	867	c.779G>A	c.(778-780)CGG>CAG	p.R260Q	MBIP_uc001wto.2_Missense_Mutation_p.R260Q|MBIP_uc010tpy.1_Missense_Mutation_p.R119Q|MBIP_uc001wtn.2_Missense_Mutation_p.R260Q	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1 isoform 1	260	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity				0	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TGTCTGTAACCGCAAGTGGGC	0.408													T	36780790	C	T	36780790	3	4	195	1	0	0	0	0	1	0	0	0	9349	652	23	1	271	1	MBIP	14	36780790	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	480130	36780790	70568750	1202	108306											
PAX9	5083	broad.mit.edu	37	chr14	37132270	37132270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtcagcaagatcctggCgcgatacaacgagacgggct	13	12	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:37132270C>T	uc001wty.3	+	3	890	c.173C>T	c.(172-174)GCG>GTG	p.A58V	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	58	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		AAGATCCTGGCGCGATACAAC	0.637													T	37132270	C	T	37132270	3	4	195	1	0	0	0	0	1	0	0	0	11486	768	27	1	179	1	PAX9	14	37132270	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	351480	37132270	70217270	1203	108307											
SLC25A21	89874	broad.mit.edu	37	chr14	37180581	37180581	+	Frame_Shift_Del	DEL	A	A	-													agccaaaataaaccatgttgAaaactccatgtcgtcccaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:37180580_37180580GA>G	uc001wtz.2	-	6	856	c.546_546TC>C	c.(544-546)ttcfs	p.F182fs	SLC25A21_uc021rsf.1_Frame_Shift_Del_p.F182fs	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					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)		AAACCATGTTGAAAACTCCAT	0.383													-	37180581	A	-	37180581	7	5	195	1	0	1	0	1	0	0	0	0	14484	246	9	0	375	0	SLC25A21	14	37180581	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	48311	37180581	70168959	1204	108308											
SEC23A	10484	broad.mit.edu	37	chr14	39532546	39532546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgattgacaacctcaaaAtatatggctaaggttgtagt	8	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:39532546A>G	uc001wup.1	-	12	1603	c.1380T>C	c.(1378-1380)TAT>TAC	p.Y460Y	SEC23A_uc010tqa.1_Silent_p.Y322Y|SEC23A_uc010tqb.1_Silent_p.Y431Y|SEC23A_uc010tqc.1_Silent_p.Y322Y	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	460					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			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CAACCTCAAAATATATGGCTA	0.348													G	39532546	A	G	39532546	2	3	195	1	0	0	0	0	0	0	0	1	13991	108	4	3		3	SEC23A	14	39532546	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2351965	39532546	67816994	1205	108309											
SEC23A	10484	broad.mit.edu	37	chr14	39565194	39565194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtctctctttcagtggTgtaaacagggctgccacagg	12	10	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:39565194T>C	uc001wup.1	-	2	352	c.129A>G	c.(127-129)ACA>ACG	p.T43T	SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Silent_p.T43T	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	43					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			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CTTTCAGTGGTGTAAACAGGG	0.433													C	39565194	T	C	39565194	2	2	195	1	0	0	0	0	0	0	0	1	13991	1683	59	3		3	SEC23A	14	39565194	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	32648	39565194	67784346	1206	108310											
FAM179B	23116	broad.mit.edu	37	chr14	45475281	45475281	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcgccatcttcccgacgAggtctaaatgggacaaagcc	10	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:45475281A>C	uc001wvv.2	+	5	2924	c.2715A>C	c.(2713-2715)CGA>CGC	p.R905R	FAM179B_uc001wvw.2_Silent_p.R905R|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Silent_p.R905R	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	905							binding			skin(2)|upper_aerodigestive_tract(1)	3						CTTCCCGACGAGGTCTAAATG	0.428													C	45475281	A	C	45475281	2	2	195	1	0	0	0	0	0	0	0	1	5506	291	11	5		5	FAM179B	14	45475281	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	5910087	45475281	61874259	1207	108311											
SOS2	6655	broad.mit.edu	37	chr14	50649247	50649248	+	Frame_Shift_Del	DEL	TG	TG	-													ctttcatcagtcatttcaacTgtgtcttcaatcaaacctaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:50649246_50649247CTG>C	uc001wxs.4	-	5	890_891	c.792_793CAG>G	c.(790-795)acagttfs	p.T264fs	SOS2_uc010tql.2_Frame_Shift_Del_p.T264fs|SOS2_uc001wxt.2_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	264	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|Rho guanyl-nucleotide exchange factor activity|protein binding			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)					GTCATTTCAACTGTGTCTTCAA	0.332													-	50649248	TG	-	50649247	7	5	195	1	0	1	0	1	0	0	0	0	14937	1567	55	0	3278	0	SOS2	14	50649247	Frame_Shift_Del	DEL	TG	TCGA-CG-5728-01A-11D-1600-08	5173966	50649247	56700293	1208	108312											
CDKL1	8814	broad.mit.edu	37	chr14	50863894	50863894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgcgctaggagccccTcctgagcggtccacatttcc	10	17	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:50863894T>C	uc010anu.1	-	4	396	c.396A>G	c.(394-396)GGA>GGG	p.G132G	CDKL1_uc001wxz.2_5'Flank	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)					TAGGAGCCCCTCCTGAGCGGT	0.597													C	50863894	T	C	50863894	2	2	195	1	0	0	0	0	0	0	0	1	3153	1566	54	3		3	CDKL1	14	50863894	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	214647	50863894	56485646	1209	108313											
FRMD6	122786	broad.mit.edu	37	chr14	52186842	52186842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggaccagctggaaaaacGgtcgcgggccagcgggagca	16	11	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:52186842G>T	uc001wzd.2	+	11	1379	c.1094G>T	c.(1093-1095)CGG>CTG	p.R365L	FRMD6_uc001wzb.2_Missense_Mutation_p.R357L|FRMD6_uc001wzc.2_Missense_Mutation_p.R357L|FRMD6_uc001wze.2_Missense_Mutation_p.R288L|FRMD6_uc001wzf.2_Missense_Mutation_p.R58L|FRMD6_uc001wzg.2_Missense_Mutation_p.R7L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	365						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					CTGGAAAAACGGTCGCGGGCC	0.577													T	52186842	G	T	52186842	3	4	195	1	0	0	0	0	1	0	0	0	6054	1116	39	5	1108	5	FRMD6	14	52186842	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1322948	52186842	55162698	1210	108314											
GNPNAT1	64841	broad.mit.edu	37	chr14	53250196	53250196	+	Frame_Shift_Del	DEL	A	A	-													gttagctgacccaataccttAaaaaaacctagttttgaaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:53250195_53250195TA>T	uc001xab.3	-	2	418	c.163_163TA>A	c.(163-165)aagfs	p.K55fs		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA.	55	N-acetyltransferase.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|cytosol|endosome membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					CCCAATACCTTAAAAAAACCT	0.348													-	53250196	A	-	53250196	7	5	195	1	0	1	0	1	0	0	0	0	6544	359	13	0	408	0	GNPNAT1	14	53250196	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1063354	53250196	54099344	1211	108315											
BMP4	652	broad.mit.edu	37	chr14	54418806	54418806	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatggctctgccctgagcgGcgtcctcccgcgtggccctg	13	17	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:54418806G>T	uc001xal.3	-	2	322	c.135C>A	c.(133-135)CGC>CGA	p.R45R	BMP4_uc010aoh.2_Silent_p.R45R|BMP4_uc001xao.3_Silent_p.R45R|BMP4_uc001xan.3_Silent_p.R45R	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	45					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				0						GCCCTGAGCGGCGTCCTCCCG	0.612													T	54418806	G	T	54418806	2	4	195	1	0	0	0	0	0	0	0	1	1462	1190	42	5		5	BMP4	14	54418806	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1168610	54418806	52930734	1212	108316											
EXOC5	10640	broad.mit.edu	37	chr14	57698340	57698340	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatatagttctccaaataGgaaatgaaaatggatttgat	7	4	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:57698340G>T	uc001xct.2	-	11	1283	c.1032C>A	c.(1030-1032)TCC>TCA	p.S344S	EXOC5_uc001xcs.2_Silent_p.S23S|EXOC5_uc010trg.1_Silent_p.S289S|EXOC5_uc010trh.1_Silent_p.S279S	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	344					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						TCTCCAAATAGGAAATGAAAA	0.353													T	57698340	G	T	57698340	2	4	195	1	0	0	0	0	0	0	0	1	5307	987	35	5		5	EXOC5	14	57698340	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3279534	57698340	49651200	1213	108317											
ARID4A	5926	broad.mit.edu	37	chr14	58830972	58830972	+	Frame_Shift_Del	DEL	A	A	-													ttctcttaaagatgaactagAaaaaaatgaaaatttgaatg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:58830971_58830971GA>G	uc001xdp.3	+	19	2418	c.2164_2164GA>G	c.(2164-2166)gaafs	p.E722fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.E722fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.E722fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.E400fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	722					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						AGATGAACTAGAAAAAAATGA	0.279													-	58830972	A	-	58830972	7	5	195	1	0	1	0	1	0	0	0	0	919	246	9	0	2239	0	ARID4A	14	58830972	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1132632	58830972	48518568	1214	108318											
SLC38A6	145389	broad.mit.edu	37	chr14	61518564	61518564	+	Frame_Shift_Del	DEL	T	T	-													ccattctcatggattcgccaTtttttgatcactctagcact							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:61518563_61518563AT>A	uc001xfh.2	+	13	1273	c.1109_1109AT>A	c.(1108-1110)catfs	p.H370fs	SLC38A6_uc001xfg.2_Frame_Shift_Del_p.H370fs|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Frame_Shift_Del_p.H347fs	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	370					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGGATTCGCCATTTTTTGATC	0.328													-	61518564	T	-	61518564	7	5	195	1	0	1	0	1	0	0	0	0	14608	1490	52	0	1164	0	SLC38A6	14	61518564	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	2687592	61518564	45830976	1215	108319											
SYNE2	23224	broad.mit.edu	37	chr14	64587757	64587758	+	Frame_Shift_Ins	INS	-	-	A													aggccacaattcagcagacaINSaaaagatttccagcagcaac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:64587756_64587757C>CA	uc001xgl.3	+	67	13365_13366	c.13135_13136C>CA	c.(13135-13137)caafs	p.Q4379fs	SYNE2_uc001xgm.3_Frame_Shift_Ins_p.Q4379fs|SYNE2_uc021ruh.1_Frame_Shift_Ins_p.Q4394fs|SYNE2_uc010apy.3_Frame_Shift_Ins_p.Q764fs|SYNE2_uc010apz.1_Frame_Shift_Ins_p.Q271fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4379					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		ATTCAGCAGACAAAAAGATTTC	0.426													A	64587758	-	A	64587757	7	5	195	1	0	1	1	0	0	0	0	0	15443	130	5	0	13402	0	SYNE2	14	64587757	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	3069193	64587757	42761783	1216	108320											
ZBTB25	7597	broad.mit.edu	37	chr14	64954534	64954534	+	Frame_Shift_Del	DEL	T	T	-													cagtccttgtttgacaactgTtttttgggttgttgagatct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:64954533_64954533GT>G	uc001xhf.3	-	2	599	c.416_416AC>C	c.(415-417)acafs	p.T139fs	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Frame_Shift_Del_p.T139fs	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	139						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TTTGACAACTGTTTTTTGGGT	0.448													-	64954534	T	-	64954534	7	5	195	1	0	1	0	1	0	0	0	0	17529	1725	60	0	896	0	ZBTB25	14	64954534	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	366777	64954534	42395006	1217	108321											
GALNTL1	57452	broad.mit.edu	37	chr14	69800300	69800301	+	Frame_Shift_Ins	INS	-	-	G													gatgcccagatggacatctgINSggggggagagaattttggtg					rs144140025		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:69800299_69800300T>TG	uc001xlb.2	+	8	1276_1277	c.949_950T>TG	c.(949-951)tggfs	p.W317fs	GALNTL1_uc001xla.2_Frame_Shift_Ins_p.W317fs|GALNTL1_uc010aqu.2_Frame_Shift_Ins_p.W317fs	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	317	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GATGGACATCTGGGGGGGAGAG	0.47													G	69800301	-	G	69800300	7	5	195	1	0	1	1	0	0	0	0	0	6221	1357	47	0	984	0	GALNTL1	14	69800300	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	4845766	69800300	37549240	1218	108322											
SFRS5	6430	broad.mit.edu	37	chr14	70235592	70235592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaccgttttagtagtcGcagacctcgaaatgatagac	9	10	1	4	rs149440957	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:70235592G>A	uc001xll.2	+	5	1726	c.275G>A	c.(274-276)CGC>CAC	p.R92H	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.R92H|SFRS5_uc001xlo.2_Missense_Mutation_p.R92H|SFRS5_uc001xlp.2_Missense_Mutation_p.R92H|SFRS5_uc001xlq.2_Missense_Mutation_p.R89H	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	92					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		TTTAGTAGTCGCAGACCTCGA	0.443													A	70235592	G	A	70235592	3	1	195	1	0	0	0	0	1	0	0	0	14180	1087	38	1	285	1	SFRS5	14	70235592	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	435292	70235592	37113948	1219	108323											
ADAM21	8747	broad.mit.edu	37	chr14	70925078	70925078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggaaacaaatcagtcttTcccagctacagcatgatgct	7	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:70925078T>C	uc001xmd.2	+	1	862	c.862T>C	c.(862-864)TCC>CCC	p.S288P		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	288	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATCAGTCTTTCCCAGCTACA	0.373													C	70925078	T	C	70925078	3	2	195	1	0	0	0	0	1	0	0	0	243	1783	62	3	864	3	ADAM21	14	70925078	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	689486	70925078	36424462	1220	108324											
RGS6	9628	broad.mit.edu	37	chr14	73029147	73029147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcgctggcgggcaagcGcctcacgggcctgatgcagt	15	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:73029147G>A	uc001xna.3	+	17	1914	c.1391G>A	c.(1390-1392)CGC>CAC	p.R464H	RGS6_uc010ttn.1_Missense_Mutation_p.R482H|RGS6_uc001xmx.3_Missense_Mutation_p.R464H|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R482H|RGS6_uc001xmz.1_Intron	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	464					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			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		GCGGGCAAGCGCCTCACGGGC	0.672													A	73029147	G	A	73029147	3	1	195	1	0	0	0	0	1	0	0	0	13309	1087	38	1	1453	1	RGS6	14	73029147	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2104069	73029147	34320393	1221	108325											
C14orf169	79697	broad.mit.edu	37	chr14	73959137	73959137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcagattctaaggatccGcgaagaaccgctttcatgga	9	10	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:73959137G>A	uc001xok.1	+	3	1495	c.1416G>A	c.(1414-1416)CCG>CCA	p.P472P	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	472					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		CTAAGGATCCGCGAAGAACCG	0.557													A	73959137	G	A	73959137	2	1	195	1	0	0	0	0	0	0	0	1	1758	1087	38	1		1	C14orf169	14	73959137	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	929990	73959137	33390403	1222	108326											
C14orf43	91748	broad.mit.edu	37	chr14	74196464	74196464	+	Frame_Shift_Del	DEL	G	G	-													tcccgcacagggctgaggatGgggggcggcgtgtagggagg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:74196463_74196463TG>T	uc010tud.1	-	2	2222	c.1975_1975CA>A	c.(1975-1977)atcfs	p.I659fs	C14orf43_uc001xos.3_5'Flank|C14orf43_uc001xot.3_Frame_Shift_Del_p.I659fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.I659fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGGCTGAGGATGGGGGGCGGC	0.622													-	74196464	G	-	74196464	7	5	195	1	0	1	0	1	0	0	0	0	1774	1335	47	0	1199	0	C14orf43	14	74196464	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	237327	74196464	33153076	1223	108327											
COQ6	51004	broad.mit.edu	37	chr14	74424920	74424920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatttcctatggccgaCtccagcccttgggttcatat	8	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:74424920C>A	uc001xph.2	+	5	632	c.552C>A	c.(550-552)GAC>GAA	p.D184E	ENTPD5_uc001xpi.2_3'UTR|COQ6_uc001xpe.2_Missense_Mutation_p.D109E|COQ6_uc001xpf.2_Missense_Mutation_p.D109E|COQ6_uc010tuk.1_Missense_Mutation_p.D159E|COQ6_uc010tul.1_Missense_Mutation_p.D129E|COQ6_uc010tum.1_Missense_Mutation_p.D184E|COQ6_uc010tun.1_Missense_Mutation_p.D129E|COQ6_uc001xpg.2_Missense_Mutation_p.D184E	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	184					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				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTATGGCCGACTCCAGCCCTT	0.468													A	74424920	C	A	74424920	3	1	195	1	0	0	0	0	1	0	0	0	3749	564	20	5	570	5	COQ6	14	74424920	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	228456	74424920	32924620	1224	108328											
LTBP2	4053	broad.mit.edu	37	chr14	74969608	74969608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcccgctctgcctcaatgcGagccacgttgcacagctgag	10	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:74969608G>A	uc001xqa.2	-	34	5305	c.4918C>T	c.(4918-4920)CGC>TGC	p.R1640C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1640					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCTCAATGCGAGCCACGTTG	0.617													A	74969608	G	A	74969608	3	1	195	1	0	0	0	0	1	0	0	0	9074	1058	37	1	559	1	LTBP2	14	74969608	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	544688	74969608	32379932	1225	108329											
ANGEL1	23357	broad.mit.edu	37	chr14	77257053	77257053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgacctctgggcggccacGctggggcaggaagtgggtat	18	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:77257053G>A	uc001xsv.2	-	9	1866	c.1753C>T	c.(1753-1755)CGT>TGT	p.R585C	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	585										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GGGCGGCCACGCTGGGGCAGG	0.502													A	77257053	G	A	77257053	3	1	195	1	0	0	0	0	1	0	0	0	608	1087	38	1	267	1	ANGEL1	14	77257053	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2287445	77257053	30092487	1226	108330											
ADCK1	57143	broad.mit.edu	37	chr14	78397874	78397874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaggacttagagattcGcaacaacgcggccaactacc	9	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:78397874G>A	uc001xui.2	+	10	1319	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	ADCK1_uc001xuj.2_Missense_Mutation_p.R339H|ADCK1_uc001xul.2_Missense_Mutation_p.R114H	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	414	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTAGAGATTCGCAACAACGCG	0.597													A	78397874	G	A	78397874	3	1	195	1	0	0	0	0	1	0	0	0	288	1087	38	1	1254	1	ADCK1	14	78397874	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1140821	78397874	28951666	1227	108331											
NRXN3	9369	broad.mit.edu	37	chr14	78710088	78710088	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctgctttctcctggacGgccaccccacctgtgactgt	10	15	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:78710088G>A	uc001xum.1	+	2		c.1445G>A						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCTCCTGGACGGCCACCCCAC	0.607													A	78710088	G	A	78710088	1	1	195	0	1	0	0	0	0	0	0	0	10667	1131	39	1		1	NRXN3	14	78710088	RNA	SNP	G	TCGA-CG-5728-01A-11D-1600-08	312214	78710088	28639452	1228	108332											
C14orf145	145508	broad.mit.edu	37	chr14	81366324	81366324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaaatcatctccaaggCgaatttgttcactgctgagg	10	8	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:81366324C>T	uc001xux.2	-	6	701	c.530G>A	c.(529-531)CGC>CAC	p.R177H	C14orf145_uc001xuz.2_Missense_Mutation_p.R177H|C14orf145_uc001xva.1_Missense_Mutation_p.R177H|C14orf145_uc001xuy.1_Missense_Mutation_p.R35H	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	177						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		ATCTCCAAGGCGAATTTGTTC	0.408													T	81366324	C	T	81366324	3	4	195	1	0	0	0	0	1	0	0	0	1749	768	27	1	2830	1	C14orf145	14	81366324	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2656236	81366324	25983216	1229	108333											
STON2	85439	broad.mit.edu	37	chr14	81743433	81743433	+	Frame_Shift_Del	DEL	T	T	-													ggacactttccctgcggaagTttttcacccactcactgggc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:81743432_81743432GT>G	uc010tvu.2	-	3	2421	c.2223_2223AC>C	c.(2221-2223)aacfs	p.N741fs	STON2_uc001xvk.1_Frame_Shift_Del_p.N741fs|STON2_uc010tvt.2_Frame_Shift_Del_p.N538fs	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	741	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)		CCCTGCGGAAGTTTTTCACCC	0.537													-	81743433	T	-	81743433	7	5	195	1	0	1	0	1	0	0	0	0	15317	1725	60	0	501	0	STON2	14	81743433	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	377109	81743433	25606107	1230	108334											
TRIP11	9321	broad.mit.edu	37	chr14	92480823	92480824	+	Frame_Shift_Ins	INS	-	-	T													ttatcctcaagttgttccatINSttttttggtagactccactt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:92480822_92480823A>AT	uc001xzy.3	-	6	1296_1297	c.922_923T>AT	c.(922-924)atgfs	p.M308fs	TRIP11_uc010auf.2_Frame_Shift_Ins_p.M73fs	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	308					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|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)		AAGTTGTTCCATTTTTTTGGTA	0.307			T	PDGFRB	AML								T	92480824	-	T	92480823	7	5	195	1	0	1	1	0	0	0	0	0	16552	1493	52	0	5077	0	TRIP11	14	92480823	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	10737390	92480823	14868717	1231	108335											
SLC24A4	123041	broad.mit.edu	37	chr14	92905714	92905714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgccttggccatagtgtgCgatgacttctttgttccgtc	10	10	1	1	rs146323738	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:92905714C>T	uc001yak.2	+	4	327	c.303C>T	c.(301-303)TGC>TGT	p.C101C	SLC24A4_uc001yai.2_Silent_p.C54C|SLC24A4_uc010twm.1_Silent_p.C118C|SLC24A4_uc001yaj.2_Silent_p.C101C|SLC24A4_uc010auj.2_Silent_p.C9C	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	118	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		CCATAGTGTGCGATGACTTCT	0.527													T	92905714	C	T	92905714	2	4	195	1	0	0	0	0	0	0	0	1	14468	776	27	1		1	SLC24A4	14	92905714	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	424891	92905714	14443826	1232	108336											
RIN3	79890	broad.mit.edu	37	chr14	93125676	93125676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctaggtgtgaccaccagcGtgccggaggtgcccatgatg	14	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:93125676G>A	uc001yap.2	+	7	2349	c.2197G>A	c.(2197-2199)GTG>ATG	p.V733M	RIN3_uc010auk.2_Missense_Mutation_p.V395M|RIN3_uc001yaq.2_Missense_Mutation_p.V658M|RIN3_uc001yar.1_Missense_Mutation_p.V395M|RIN3_uc001yas.1_Missense_Mutation_p.V395M	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	733	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				GACCACCAGCGTGCCGGAGGT	0.557													A	93125676	G	A	93125676	3	1	195	1	0	0	0	0	1	0	0	0	13373	1145	40	1	2223	1	RIN3	14	93125676	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	219962	93125676	14223864	1233	108337											
KIAA1409	57578	broad.mit.edu	37	chr14	94158100	94158100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttccttttcagacctcCgtgctgcacatgtgctccct	6	16	2	1	rs151304420		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:94158100C>T	uc001ybv.1	+	45	7013	c.6930C>T	c.(6928-6930)TCC>TCT	p.S2310S	KIAA1409_uc001ybs.1_Silent_p.S2288S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2465						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TTCAGACCTCCGTGCTGCACA	0.552													T	94158100	C	T	94158100	2	4	195	1	0	0	0	0	0	0	0	1	8230	639	23	1		1	KIAA1409	14	94158100	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1032424	94158100	13191440	1234	108338											
SERPINA6	866	broad.mit.edu	37	chr14	94776106	94776106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggaccacctgttaatcGtgtcccggctcagtgcagcg	12	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:94776106G>A	uc001ycv.2	-	3	955	c.851C>T	c.(850-852)ACG>ATG	p.T284M	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	284					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCTGTTAATCGTGTCCCGGCT	0.552													A	94776106	G	A	94776106	3	1	195	1	0	0	0	0	1	0	0	0	14093	1145	40	1	378	1	SERPINA6	14	94776106	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	618006	94776106	12573434	1235	108339											
C14orf49	161176	broad.mit.edu	37	chr14	95921913	95921913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcctcccagagggcgCgcagcttctccagaactttc	8	18	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:95921913C>T	uc001yei.3	-	5	953	c.938G>A	c.(937-939)CGC>CAC	p.R313H	C14orf49_uc010avi.2_Missense_Mutation_p.R313H|C14orf49_uc001yej.1_Missense_Mutation_p.R313H	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	313	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCAGAGGGCGCGCAGCTTCTC	0.617													T	95921913	C	T	95921913	3	4	195	1	0	0	0	0	1	0	0	0	1776	768	27	1	2041	1	C14orf49	14	95921913	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1145807	95921913	11427627	1236	108340											
C14orf49	161176	broad.mit.edu	37	chr14	95923557	95923557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggcagcttgcagttcCgccccaggcagccattcacc	11	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:95923557C>T	uc001yei.3	-	4	761	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	C14orf49_uc010avi.2_Missense_Mutation_p.R249Q|C14orf49_uc001yej.1_Missense_Mutation_p.R249Q	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	249	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CTTGCAGTTCCGCCCCAGGCA	0.627													T	95923557	C	T	95923557	3	4	195	1	0	0	0	0	1	0	0	0	1776	652	23	1	2237	1	C14orf49	14	95923557	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1644	95923557	11425983	1237	108341											
C14orf129	51527	broad.mit.edu	37	chr14	96851949	96851949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttggatacactcagcccCgcctaccgagaagcatttgg	10	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:96851949C>T	uc001yfj.3	+	4	493	c.348C>T	c.(346-348)CCC>CCT	p.P116P	C14orf129_uc001yfl.2_Silent_p.P116P	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	chromosome 14 open reading frame 129	116	Interaction with GSK3B.					cytoplasm	protein binding				0		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		CACTCAGCCCCGCCTACCGAG	0.463													T	96851949	C	T	96851949	2	4	195	1	0	0	0	0	0	0	0	1	1744	639	23	1		1	C14orf129	14	96851949	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	928392	96851949	10497591	1238	108342											
PAPOLA	10914	broad.mit.edu	37	chr14	96986463	96986463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcattacttctcctatcaGcttagcagcccccaaggaga	8	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:96986463G>A	uc001yfq.2	+	2	290	c.80G>A	c.(79-81)AGC>AAC	p.S27N	PAPOLA_uc001yfo.2_Missense_Mutation_p.S27N|PAPOLA_uc001yfp.2_Missense_Mutation_p.S27N|PAPOLA_uc001yfr.2_Missense_Mutation_p.S27N|PAPOLA_uc010twv.1_Missense_Mutation_p.S27N|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	27					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCTCCTATCAGCTTAGCAGCC	0.443													A	96986463	G	A	96986463	3	1	195	1	0	0	0	0	1	0	0	0	11429	971	34	2	86	2	PAPOLA	14	96986463	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	134514	96986463	10363077	1239	108343											
CCNK	8812	broad.mit.edu	37	chr14	99969288	99969288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaagaaaccctctccgcaGcccagttctccccgacaggt	7	19	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:99969288G>T	uc001ygi.3	+	8	1108	c.978G>T	c.(976-978)CAG>CAT	p.Q326H	CCNK_uc001ygg.3_Intron	NM_001099402	NP_001092872	O75909	CCNK_HUMAN	cyclin K isoform 1	326					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCTCTCCGCAGCCCAGTTCTC	0.632													T	99969288	G	T	99969288	3	4	195	1	0	0	0	0	1	0	0	0	2930	962	34	5	1004	5	CCNK	14	99969288	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2982825	99969288	7380252	1240	108344											
WARS	7453	broad.mit.edu	37	chr14	100808882	100808882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccgatcctgggggcgacGtcccttgtcattctaaagta	11	11	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:100808882G>A	uc001yhf.1	-	8	1050	c.966C>T	c.(964-966)GAC>GAT	p.D322D	WARS_uc001yhe.1_Silent_p.D128D|WARS_uc001yhg.1_Silent_p.D322D|WARS_uc001yhh.1_Silent_p.D322D|WARS_uc001yhi.1_Silent_p.D281D|WARS_uc001yhj.1_Silent_p.D281D|WARS_uc001yhk.1_Silent_p.D281D|WARS_uc001yhl.1_Silent_p.D322D	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	322					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGGGGGCGACGTCCCTTGTCA	0.587													A	100808882	G	A	100808882	2	1	195	1	0	0	0	0	0	0	0	1	17246	1136	40	1		1	WARS	14	100808882	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	839594	100808882	6540658	1241	108345											
XRCC3	7517	broad.mit.edu	37	chr14	104165790	104165790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgcctggccctgggggCggaggcctggctgtcaaatt	16	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:104165790C>T	uc001yny.3	-	8	1065	c.685G>A	c.(685-687)GCC>ACC	p.A229T	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Missense_Mutation_p.A229T|XRCC3_uc001ynz.3_Missense_Mutation_p.A229T|XRCC3_uc001yoa.3_Missense_Mutation_p.A229T	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	229					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		GCCCTGGGGGCGGAGGCCTGG	0.642								Direct_reversal_of_damage|Homologous_recombination					T	104165790	C	T	104165790	3	4	195	1	0	0	0	0	1	0	0	0	17451	768	27	1	367	1	XRCC3	14	104165790	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3356908	104165790	3183750	1242	108346											
AHNAK2	113146	broad.mit.edu	37	chr14	105414613	105414613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaggccggctccctccGgcacggggccctctgggagt	15	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:105414613G>A	uc010axc.1	-	7	7295	c.7175C>T	c.(7174-7176)CCG>CTG	p.P2392L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2292L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2392						nucleus				ovary(1)	1		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)			GGCTCCCTCCGGCACGGGGCC	0.622													A	105414613	G	A	105414613	3	1	195	1	0	0	0	0	1	0	0	0	415	1116	39	1	10216	1	AHNAK2	14	105414613	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1248823	105414613	1934927	1243	108347											
GPR132	29933	broad.mit.edu	37	chr14	105517868	105517868	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagccaacggtgaacctGgcgtagtagtacccggcaat	12	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:105517868G>T	uc001yqd.2	-	4	1505	c.606C>A	c.(604-606)GCC>GCA	p.A202A	GPR132_uc001yqc.2_Silent_p.A14A|GPR132_uc001yqe.2_Silent_p.A193A	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	202	Helical; Name=5; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		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)		CGGTGAACCTGGCGTAGTAGT	0.562													T	105517868	G	T	105517868	2	4	195	1	0	0	0	0	0	0	0	1	6642	1335	47	5		5	GPR132	14	105517868	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	103255	105517868	1831672	1244	108348											
BTBD6	90135	broad.mit.edu	37	chr14	105716569	105716569	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccccgcagaggtgccacCgattccagtcttctgcctac	9	17	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr14:105716569C>T	uc010tyq.1	+	5	1126	c.1018C>T	c.(1018-1020)CGA>TGA	p.R340*	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	340						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GAGGTGCCACCGATTCCAGTC	0.617													T	105716569	C	T	105716569	4	4	195	1	0	0	0	0	0	1	0	0	1545	644	23	1	1032	1	BTBD6	14	105716569	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	198701	105716569	1632971	1245	108349											
NIPA1	123606	broad.mit.edu	37	chr15	23048857	23048857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatattagatttgttcAtctccccaaggttgaaattg	6	7	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:23048857A>G	uc001yvc.2	-	5	987	c.962T>C	c.(961-963)ATG>ACG	p.M321T	NIPA1_uc001yvd.2_Missense_Mutation_p.M151T|NIPA1_uc001yve.2_Missense_Mutation_p.M246T	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	321	Cytoplasmic (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		AGATTTGTTCATCTCCCCAAG	0.468													G	23048857	A	G	23048857	3	3	195	1	0	0	0	0	1	0	0	0	10422	217	8	3	31	3	NIPA1	15	23048857	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08		23048857	79482535	1246	108350											
NIPA1	123606	broad.mit.edu	37	chr15	23048996	23048996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaagaggatggctgaggCcagcaggaccagcgtggtaa	17	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:23048996C>T	uc001yvc.2	-	5	848	c.823G>A	c.(823-825)GCC>ACC	p.A275T	NIPA1_uc001yvd.2_Missense_Mutation_p.A105T|NIPA1_uc001yve.2_Missense_Mutation_p.A200T	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	275	Helical; (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ATGGCTGAGGCCAGCAGGACC	0.587													T	23048996	C	T	23048996	3	4	195	1	0	0	0	0	1	0	0	0	10422	739	26	2	170	2	NIPA1	15	23048996	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	139	23048996	79482396	1247	108351											
NIPA1	123606	broad.mit.edu	37	chr15	23049218	23049218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggtggaaggcacggtgaAactgcccagcaaggagcaga	15	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:23049218A>C	uc001yvc.2	-	5	626	c.601T>G	c.(601-603)TTC>GTC	p.F201V	NIPA1_uc001yvd.2_Missense_Mutation_p.F31V|NIPA1_uc001yve.2_Missense_Mutation_p.F126V	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	201	Helical; (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGCACGGTGAAACTGCCCAGC	0.602													C	23049218	A	C	23049218	3	2	195	1	0	0	0	0	1	0	0	0	10422	14	1	5	392	5	NIPA1	15	23049218	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	222	23049218	79482174	1248	108352											
NDN	4692	broad.mit.edu	37	chr15	23932081	23932081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgcaccagctgcgccGgggctggcggtgccgggccc	16	17	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:23932081G>A	uc001ywk.2	-	1	370	c.284C>T	c.(283-285)CCG>CTG	p.P95L		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	95					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		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)		CAGCTGCGCCGGGGCTGGCGG	0.677									Prader-Willi_syndrome				A	23932081	G	A	23932081	3	1	195	1	0	0	0	0	1	0	0	0	10247	1116	39	1	685	1	NDN	15	23932081	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	882863	23932081	78599311	1249	108353											
GABRG3	2567	broad.mit.edu	37	chr15	27777969	27777969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtactcccgggtcttttTccccacgtccttcctgctct	6	18	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:27777969T>C	uc001zbg.1	+	10	1512	c.1346T>C	c.(1345-1347)TTC>TCC	p.F449S		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	449	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		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)		CGGGTCTTTTTCCCCACGTCC	0.473													C	27777969	T	C	27777969	3	2	195	1	0	0	0	0	1	0	0	0	6173	1783	62	3	1384	3	GABRG3	15	27777969	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	3845888	27777969	74753423	1250	108354											
OCA2	4948	broad.mit.edu	37	chr15	28090167	28090167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatccctgcacacacgacGtttgccgacgcgccaatcag	9	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:28090167G>A	uc001zbh.3	-	23	2480	c.2370C>T	c.(2368-2370)AAC>AAT	p.N790N	OCA2_uc010ayv.2_Silent_p.N766N	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	790	Extracellular (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		CACACACGACGTTTGCCGACG	0.398									Oculocutaneous_Albinism				A	28090167	G	A	28090167	2	1	195	1	0	0	0	0	0	0	0	1	10815	1136	40	1		1	OCA2	15	28090167	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	312198	28090167	74441225	1251	108355											
HERC2	8924	broad.mit.edu	37	chr15	28499647	28499648	+	Frame_Shift_Ins	INS	-	-	T													ctttttccttctgtgcttctINStttttggcttcaatatcctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:28499646_28499647C>CT	uc001zbj.3	-	19	2995_2996	c.2889_2890G>AG	c.(2887-2892)aaagaafs	p.K963fs	HERC2_uc001zbl.1_Frame_Shift_Ins_p.K658fs	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	963					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)		TTCTGTGCTTCTTTTTTGGCTT	0.401													T	28499648	-	T	28499647	7	5	195	1	0	1	1	0	0	0	0	0	7058	1606	56	0	11911	0	HERC2	15	28499647	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	409480	28499647	74031745	1252	108356											
APBA2	321	broad.mit.edu	37	chr15	29346438	29346438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagggcatggactgcaaCggggaggagtacctggccca	16	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:29346438C>T	uc001zck.2	+	3	558	c.351C>T	c.(349-351)AAC>AAT	p.N117N	APBA2_uc010azj.2_Silent_p.N117N|APBA2_uc010uat.1_Silent_p.N117N|APBA2_uc001zcl.2_Silent_p.N117N|APBA2_uc010uas.1_Silent_p.N117N	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	117					nervous system development|protein transport		protein binding				0		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)		TGGACTGCAACGGGGAGGAGT	0.647													T	29346438	C	T	29346438	2	4	195	1	0	0	0	0	0	0	0	1	757	535	19	1		1	APBA2	15	29346438	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	846791	29346438	73184954	1253	108357											
FMN1	342184	broad.mit.edu	37	chr15	33192185	33192185	+	Frame_Shift_Del	DEL	T	T	-													atgaaaaataaatacccgacTtttgacatccttgagtttgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:33192184_33192184CT>C	uc001zhf.4	-	9	2981	c.2981_2981AG>G	c.(2980-2982)agtfs	p.S994fs		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1217	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)		AAATACCCGACTTTTGACATC	0.338													-	33192185	T	-	33192185	7	5	195	1	0	1	0	1	0	0	0	0	5949	1609	56	0	642	0	FMN1	15	33192185	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	3845747	33192185	69339207	1254	108358											
RYR3	6263	broad.mit.edu	37	chr15	33873743	33873743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttaaattgcattgaccGcttaaatgtctacaatagcg	7	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:33873743G>A	uc001zhi.2	+	14	1542	c.1472G>A	c.(1471-1473)CGC>CAC	p.R491H	RYR3_uc010bar.2_Missense_Mutation_p.R491H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	491	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TGCATTGACCGCTTAAATGTC	0.438													A	33873743	G	A	33873743	3	1	195	1	0	0	0	0	1	0	0	0	13770	1087	38	1	1526	1	RYR3	15	33873743	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	681558	33873743	68657649	1255	108359											
C15orf29	79768	broad.mit.edu	37	chr15	34455848	34455849	+	Frame_Shift_Ins	INS	-	-	T													tcttattacaaaagttccgtINStttttaacattgtgggtttc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:34455847_34455848G>GT	uc001zhp.3	-	1	190_191	c.30_31C>AC	c.(28-33)aaacggfs	p.K10fs	C15orf29_uc010ubz.2_Intron|C15orf29_uc010uca.1_Frame_Shift_Ins_p.K10fs	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	10						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		CAAAAGTTCCGTTTTTTAACAT	0.287													T	34455849	-	T	34455848	7	5	195	1	0	1	1	0	0	0	0	0	1789	1722	60	0	920	0	C15orf29	15	34455848	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	582105	34455848	68075544	1256	108360											
EIF2AK4	440275	broad.mit.edu	37	chr15	40308866	40308866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagaaactcggcatcaAgttacaggtttggcaacagt	11	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:40308866A>G	uc001zkm.1	+	28	3973	c.3923A>G	c.(3922-3924)AAG>AGG	p.K1308R	EIF2AK4_uc010bbj.1_Missense_Mutation_p.K1009R|EIF2AK4_uc001zkn.1_Missense_Mutation_p.K408R|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1308	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		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)		CTCGGCATCAAGTTACAGGTT	0.378													G	40308866	A	G	40308866	3	3	195	1	0	0	0	0	1	0	0	0	4999	72	3	3	4033	3	EIF2AK4	15	40308866	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	5853018	40308866	62222526	1257	108361											
FAM82A2	55177	broad.mit.edu	37	chr15	41029864	41029864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcttccacagtggcacTgagagggctttcaagcaagg	13	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:41029864T>C	uc001zmo.1	-	10	1330	c.1186A>G	c.(1186-1188)AGT>GGT	p.S396G	FAM82A2_uc001zmp.1_Missense_Mutation_p.S396G|FAM82A2_uc001zmq.1_Missense_Mutation_p.S396G	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	396					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						ACAGTGGCACTGAGAGGGCTT	0.468													C	41029864	T	C	41029864	3	2	195	1	0	0	0	0	1	0	0	0	5631	1580	55	3	242	3	FAM82A2	15	41029864	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	720998	41029864	61501528	1258	108362											
INO80	54617	broad.mit.edu	37	chr15	41362706	41362706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgctctgtactgtttTaccaaggcccatttcatcag	8	11	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:41362706T>C	uc001zni.2	-	13	1858	c.1645A>G	c.(1645-1647)AAA>GAA	p.K549E	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	549	ATP (By similarity).|Helicase ATP-binding.|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			ovary(2)|pancreas(1)|skin(1)	4						TGTACTGTTTTACCAAGGCCC	0.403													C	41362706	T	C	41362706	3	2	195	1	0	0	0	0	1	0	0	0	7746	1763	61	3	3121	3	INO80	15	41362706	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	332842	41362706	61168686	1259	108363											
ITPKA	3706	broad.mit.edu	37	chr15	41794637	41794637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccgacttcaagactaCgcgaagccgagagcaggtgc	12	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:41794637C>T	uc001znz.2	+	5	1057	c.1046C>T	c.(1045-1047)ACG>ATG	p.T349M		NM_002220	NP_002211	P23677	IP3KA_HUMAN	1D-myo-inositol-trisphosphate 3-kinase A	349					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0		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;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TTCAAGACTACGCGAAGCCGA	0.607													T	41794637	C	T	41794637	3	4	195	1	0	0	0	0	1	0	0	0	7917	536	19	1	1064	1	ITPKA	15	41794637	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	431931	41794637	60736755	1260	108364											
VPS39	23339	broad.mit.edu	37	chr15	42459039	42459039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgagccttctttagcaCgtgctcgctctcctcgatgt	9	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:42459039C>T	uc001zpd.2	-	15	1634	c.1483G>A	c.(1483-1485)GTG>ATG	p.V495M	VPS39_uc001zpc.2_Missense_Mutation_p.V484M|VPS39_uc001zpb.2_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	495					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		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)		TTCTTTAGCACGTGCTCGCTC	0.542													T	42459039	C	T	42459039	3	4	195	1	0	0	0	0	1	0	0	0	17206	536	19	1	1225	1	VPS39	15	42459039	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	664402	42459039	60072353	1261	108365											
ZFP106	64397	broad.mit.edu	37	chr15	42743481	42743481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcgagtaagccttctgaaGgaaatttatcacttgtaaat	8	6	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:42743481G>T	uc001zpw.2	-	2	1255	c.920C>A	c.(919-921)CCT>CAT	p.P307H	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P90H|ZFP106_uc001zpy.1_Missense_Mutation_p.P330H	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	307						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCCTTCTGAAGGAAATTTATC	0.413													T	42743481	G	T	42743481	3	4	195	1	0	0	0	0	1	0	0	0	17634	1000	35	5	4803	5	ZFP106	15	42743481	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	284442	42743481	59787911	1262	108366											
TMEM62	80021	broad.mit.edu	37	chr15	43427812	43427812	+	Frame_Shift_Del	DEL	A	A	-													gaagaagacaagagtcatggAaaaaaccaagtggctggata							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:43427811_43427811GA>G	uc001zqr.3	+	2	673	c.394_394GA>G	c.(394-396)gaafs	p.E132fs	TMEM62_uc010bda.3_Frame_Shift_Del_p.E2fs	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	132						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)		AAGAGTCATGGAAAAAACCAA	0.433													-	43427812	A	-	43427812	7	5	195	1	0	1	0	1	0	0	0	0	16186	246	9	0	405	0	TMEM62	15	43427812	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	684331	43427812	59103580	1263	108367											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag					rs11553044		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					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	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(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)		TGCTCGCGCTACTCTCTCTTTC	0.614													-	45003782	CT	-	45003781	7	5	195	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-CG-5728-01A-11D-1600-08	1575969	45003781	57527611	1264	108368											
B2M	567	broad.mit.edu	37	chr15	45007897	45007898	+	Frame_Shift_Ins	INS	-	-	G													cagcccaagatagttaagtgINSgggtaagtcttacattcttt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:45007896_45007897T>TG	uc001zuc.3	+	1	403_404	c.343_344T>TG	c.(343-345)tggfs	p.W115fs	B2M_uc010uek.1_Frame_Shift_Ins_p.W115fs|B2M_uc010bdx.1_3'UTR	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	115					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	Golgi membrane|MHC class I protein complex|early endosome membrane	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)		GATAGTTAAGTGGGGTAAGTCT	0.396													G	45007898	-	G	45007897	7	5	195	1	0	1	1	0	0	0	0	0	1244	1357	47	0	350	0	B2M	15	45007897	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	4116	45007897	57523495	1265	108369											
DUOX2	50506	broad.mit.edu	37	chr15	45388103	45388103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtccagggccccactgCccggatgtgcaggctgagtg	16	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:45388103C>T	uc010bea.2	-	30	4206	c.4003G>A	c.(4003-4005)GCA>ACA	p.A1335T	DUOX2_uc001zun.2_Missense_Mutation_p.A1335T	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1335	Cytoplasmic (Potential).|FAD-binding FR-type.				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			ovary(2)|skin(2)|pancreas(1)	5		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)		GGCCCCACTGCCCGGATGTGC	0.647													T	45388103	C	T	45388103	3	4	195	1	0	0	0	0	1	0	0	0	4801	739	26	2	663	2	DUOX2	15	45388103	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	380206	45388103	57143289	1266	108370											
SPATA5L1	79029	broad.mit.edu	37	chr15	45710841	45710841	+	Frame_Shift_Del	DEL	T	T	-													aacctcgcagcagaaacctgTtttttttctggagctgatct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:45710840_45710840GT>G	uc001zve.3	+	6	2163	c.2054_2054GT>G	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						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)		GCAGAAACCTGTTTTTTTTCT	0.363													-	45710841	T	-	45710841	7	5	195	1	0	1	0	1	0	0	0	0	15011	1731	60	0	2081	0	SPATA5L1	15	45710841	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	322738	45710841	56820551	1267	108371											
FBN1	2200	broad.mit.edu	37	chr15	48752456	48752456	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gactcaccaacgggtaaaccGgtataaatgtcgatgacaaa	9	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:48752456G>C	uc001zwx.1	-	43	5611	c.5283C>G	c.(5281-5283)ACC>ACG	p.T1761T	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1761					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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGGTAAACCGGTATAAATGT	0.418													C	48752456	G	C	48752456	2	2	195	1	0	0	0	0	0	0	0	1	5702	1103	39	5		5	FBN1	15	48752456	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3041615	48752456	53778936	1268	108372											
NEDD4	4734	broad.mit.edu	37	chr15	56134223	56134223	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactcctccataatccaAtcccttttcaccatcaaact	2	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:56134223A>T	uc002adj.2	-	15	3304	c.3004T>A	c.(3004-3006)TTG>ATG	p.L1002M	NEDD4_uc002adl.2_Missense_Mutation_p.L583M|NEDD4_uc002adi.2_Missense_Mutation_p.L930M|NEDD4_uc010ugj.1_Missense_Mutation_p.L986M|NEDD4_uc010bfm.2_Missense_Mutation_p.L985M|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1002	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			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCATAATCCAATCCCTTTTCA	0.423													T	56134223	A	T	56134223	3	4	195	1	0	0	0	0	1	0	0	0	10310	98	4	5	999	5	NEDD4	15	56134223	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	7381767	56134223	46397169	1269	108373											
VPS13C	54832	broad.mit.edu	37	chr15	62209578	62209578	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatatgggagaagattccGcaaagtgagagaaggataaa	14	3	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:62209578G>T	uc002agz.2	-	60	8091	c.8017C>A	c.(8017-8019)CGG>AGG	p.R2673R	VPS13C_uc002aha.2_Silent_p.R2630R|VPS13C_uc002ahb.1_Silent_p.R2673R|VPS13C_uc002ahc.1_Silent_p.R2630R|VPS13C_uc002ahd.1_Silent_p.R50R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2673					protein localization					ovary(2)	2						AGAAGATTCCGCAAAGTGAGA	0.363													T	62209578	G	T	62209578	2	4	195	1	0	0	0	0	0	0	0	1	17188	1086	38	5		5	VPS13C	15	62209578	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6075355	62209578	40321814	1270	108374											
TLN2	83660	broad.mit.edu	37	chr15	63000709	63000709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcacttcaggttgtgagCcccactattagctcccctgt	8	14	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:63000709C>T	uc002alb.3	+	18	2181	c.2181C>T	c.(2179-2181)AGC>AGT	p.S727S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	727					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AGGTTGTGAGCCCCACTATTA	0.597													T	63000709	C	T	63000709	2	4	195	1	0	0	0	0	0	0	0	1	15945	738	26	2		2	TLN2	15	63000709	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	791131	63000709	39530683	1271	108375											
PARP16	54956	broad.mit.edu	37	chr15	65553245	65553245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtggcttctgtgaatAcaccaggaggtacttcactc	11	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:65553245A>G	uc002aoo.2	-	5	1065	c.811T>C	c.(811-813)TAT>CAT	p.Y271H	PARP16_uc002aop.2_Missense_Mutation_p.Y156H|PARP16_uc002aoq.2_Missense_Mutation_p.Y271H	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	271	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						TTCTGTGAATACACCAGGAGG	0.498													G	65553245	A	G	65553245	3	3	195	1	0	0	0	0	1	0	0	0	11460	391	14	3	168	3	PARP16	15	65553245	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2552536	65553245	36978147	1272	108376											
TIPIN	54962	broad.mit.edu	37	chr15	66644525	66644532	+	Frame_Shift_Del	DEL	CAGGTGCT	CAGGTGCT	-													tctctttggaggtacacgaaCaggtgctccatttcctgact							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:66644524_66644531ACAGGTGCT>A	uc002apr.2	-	2	234_241	c.148_155AGCACCTGT>T	c.(148-156)gcacctgttfs	p.A50fs	TIPIN_uc010ujn.1_5'Flank|TIPIN_uc010ujo.1_5'UTR	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	Homo sapiens TIMELESS interacting protein (TIPIN), mRNA.	50					DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						AGGTACACGAACAGGTGCTCCATTTCCT	0.312													-	66644532	CAGGTGCT	-	66644525	7	5	195	1	0	1	0	1	0	0	0	0	15922	478	17	0	775	0	TIPIN	15	66644525	Frame_Shift_Del	DEL	CAGGTGCT	TCGA-CG-5728-01A-11D-1600-08	1091280	66644525	35886867	1273	108377											
GLCE	26035	broad.mit.edu	37	chr15	69561347	69561347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaggtccttgtatgagCgtggcatggaatctcttaaa	11	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:69561347C>T	uc002ary.1	+	5	1846	c.1618C>T	c.(1618-1620)CGT>TGT	p.R540C		NM_015554	NP_056369	O94923	GLCE_HUMAN	D-glucuronyl C5-epimerase	540	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			ovary(2)	2						CTTGTATGAGCGTGGCATGGA	0.433													T	69561347	C	T	69561347	3	4	195	1	0	0	0	0	1	0	0	0	6432	768	27	1	1628	1	GLCE	15	69561347	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2916822	69561347	32970045	1274	108378											
LRRC49	54839	broad.mit.edu	37	chr15	71276445	71276445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcataggagaagaaaaggTtaacaattaacaacgtagct	8	5	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:71276445T>C	uc002asw.2	+	11	1265	c.1018T>C	c.(1018-1020)TTA>CTA	p.L340L	LRRC49_uc002asu.2_Silent_p.L330L|LRRC49_uc002asx.2_Silent_p.L296L|LRRC49_uc010ukf.1_Silent_p.L345L|LRRC49_uc002asy.2_Silent_p.L46L|LRRC49_uc002asz.2_Silent_p.L312L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	340	Potential.					cytoplasm|microtubule				ovary(1)	1						GAAGAAAAGGTTAACAATTAA	0.363													C	71276445	T	C	71276445	2	2	195	1	0	0	0	0	0	0	0	1	9006	1722	60	3		3	LRRC49	15	71276445	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1715098	71276445	31254947	1275	108379											
THSD4	79875	broad.mit.edu	37	chr15	72063445	72063445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcgggtccgggaagtgCggtgtctgtctgatgacatg	16	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:72063445C>T	uc002atb.1	+	16	2891	c.2812C>T	c.(2812-2814)CGG>TGG	p.R938W	THSD4_uc002ate.2_Missense_Mutation_p.R578W|THSD4_uc002atg.1_Missense_Mutation_p.R141W	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	938	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CCGGGAAGTGCGGTGTCTGTC	0.502													T	72063445	C	T	72063445	3	4	195	1	0	0	0	0	1	0	0	0	15875	759	27	1	2874	1	THSD4	15	72063445	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	787000	72063445	30467947	1276	108380											
PKM2	5315	broad.mit.edu	37	chr15	72501132	72501132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcctggatgtccttctcCgacacagcaggcaagtccac	9	14	1	1	rs11558356		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:72501132C>T	uc002atx.1	-	6	907	c.666G>A	c.(664-666)TCG>TCA	p.S222S	PKM2_uc002ats.1_5'Flank|PKM2_uc002att.1_5'UTR|PKM2_uc002atu.1_5'UTR|PKM2_uc010bit.1_Silent_p.S227S|PKM2_uc010uki.1_Silent_p.S296S|PKM2_uc002atv.1_Silent_p.S257S|PKM2_uc002atw.1_Silent_p.S222S|PKM2_uc002aty.1_Silent_p.S222S|PKM2_uc010ukj.1_Silent_p.S207S|PKM2_uc010ukk.1_Silent_p.S148S|PKM2_uc010biu.1_Silent_p.S243S|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	222					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	TGTCCTTCTCCGACACAGCAG	0.542													T	72501132	C	T	72501132	2	4	195	1	0	0	0	0	0	0	0	1	11977	639	23	1		1	PKM2	15	72501132	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	437687	72501132	30030260	1277	108381											
CYP1A2	1544	broad.mit.edu	37	chr15	75042781	75042781	+	Frame_Shift_Del	DEL	C	C	-													gagactgcctcctccgggaaCcccctggacttcttccccat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:75042780_75042780AC>A	uc002ayr.1	+	1	765	c.701_701AC>A	c.(700-702)aacfs	p.N234fs		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	234					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)	TCCTCCGGGAACCCCCTGGAC	0.567													-	75042781	C	-	75042781	7	5	195	1	0	1	0	1	0	0	0	0	4150	506	18	0	704	0	CYP1A2	15	75042781	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	2541649	75042781	27488611	1278	108382											
CSPG4	1464	broad.mit.edu	37	chr15	75981164	75981164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtaagcgtggtgctgtgGgtcagtgctcaggtacctca	15	9	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:75981164G>A	uc002baw.2	-	3	2335	c.2242C>T	c.(2242-2244)CCA>TCA	p.P748S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	748	CSPG 3.|Extracellular (Potential).|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			ovary(2)|pancreas(1)	3						TGGTGCTGTGGGTCAGTGCTC	0.652													A	75981164	G	A	75981164	3	1	195	1	0	0	0	0	1	0	0	0	3960	1232	43	4	4758	4	CSPG4	15	75981164	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	938383	75981164	26550228	1279	108383											
CIB2	10518	broad.mit.edu	37	chr15	78401632	78401632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggagccgactcgcagagCacggaaaacatgtccacaaa	12	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:78401632C>T	uc002bdb.1	-	4	612	c.291G>A	c.(289-291)GTG>GTA	p.V97V	CIB2_uc002bdc.1_Silent_p.V54V|CIB2_uc010ums.1_Silent_p.V97V	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	97	EF-hand 1.						calcium ion binding				0						ACTCGCAGAGCACGGAAAACA	0.537													T	78401632	C	T	78401632	2	4	195	1	0	0	0	0	0	0	0	1	3421	697	25	2		2	CIB2	15	78401632	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2420468	78401632	24129760	1280	108384											
RASGRF1	5923	broad.mit.edu	37	chr15	79264215	79264215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcacagcttacctttgctTggtgctctattttgtaggca	10	9	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:79264215T>C	uc002beq.2	-	27	4097	c.3722A>G	c.(3721-3723)CAA>CGA	p.Q1241R	RASGRF1_uc002bep.2_Missense_Mutation_p.Q1225R|RASGRF1_uc002beo.2_Missense_Mutation_p.Q457R	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1243	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			skin(4)|ovary(1)|central_nervous_system(1)	6						TACCTTTGCTTGGTGCTCTAT	0.488													C	79264215	T	C	79264215	3	2	195	1	0	0	0	0	1	0	0	0	13072	1812	63	3	107	3	RASGRF1	15	79264215	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	862583	79264215	23267177	1281	108385											
KIAA1199	57214	broad.mit.edu	37	chr15	81234221	81234222	+	Frame_Shift_Ins	INS	-	-	GA													gaagctgaaagctcagaacgINSagagagagaagtttgctttc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:81234220_81234221C>CGA	uc002bfw.1	+	24	3698_3699	c.3438_3439C>CGA	c.(3436-3441)aacgagfs	p.N1146fs	KIAA1199_uc010unn.1_Frame_Shift_Ins_p.N1146fs	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1146										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						AAGCTCAGAACGAGAGAGAGAA	0.51													GA	81234222	-	GA	81234221	7	5	195	1	0	1	1	0	0	0	0	0	8213	1059	37	0	3533	0	KIAA1199	15	81234221	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1970006	81234221	21297171	1282	108386											
AP3B2	8120	broad.mit.edu	37	chr15	83346060	83346060	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taagctttgccaagtgtttgAtgatctctccatgttgtgct	9	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:83346060A>T	uc010uoh.1	-	13	1631	c.1454T>A	c.(1453-1455)ATC>AAC	p.I485N	AP3B2_uc010uoi.1_Missense_Mutation_p.I485N|AP3B2_uc010uoj.1_Missense_Mutation_p.I453N|AP3B2_uc010uog.1_Missense_Mutation_p.I121N	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	485					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAAGTGTTTGATGATCTCTCC	0.448													T	83346060	A	T	83346060	3	4	195	1	0	0	0	0	1	0	0	0	745	333	12	5	1850	5	AP3B2	15	83346060	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2111839	83346060	19185332	1283	108387											
FSD2	123722	broad.mit.edu	37	chr15	83430979	83430979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcatccacctccacctcCcagtaatggtgccctcggac	7	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:83430979C>A	uc002bjd.2	-	12	2039	c.1872G>T	c.(1870-1872)TGG>TGT	p.W624C	FSD2_uc010uol.1_Missense_Mutation_p.W579C|FSD2_uc010uom.1_Missense_Mutation_p.W579C	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	624	B30.2/SPRY.									central_nervous_system(1)	1						CCTCCACCTCCCAGTAATGGT	0.522													A	83430979	C	A	83430979	3	1	195	1	0	0	0	0	1	0	0	0	6071	624	22	5	385	5	FSD2	15	83430979	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	84919	83430979	19100413	1284	108388											
ZNF774	342132	broad.mit.edu	37	chr15	90904478	90904478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagcttccgtcagaaagCgcatcttttatgccatcaaa	7	11	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:90904478C>T	uc002bpk.3	+	4	1601	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	472	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CGTCAGAAAGCGCATCTTTTA	0.433													T	90904478	C	T	90904478	3	4	195	1	0	0	0	0	1	0	0	0	18144	768	27	1	1425	1	ZNF774	15	90904478	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	7473499	90904478	11626914	1285	108389											
SV2B	9899	broad.mit.edu	37	chr15	91832792	91832792	+	Frame_Shift_Del	DEL	T	T	-													cagtctgctgcttcttcctgTtttttggcaacagtgagtct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:91832791_91832791GT>G	uc002bqv.3	+	12	2640	c.1749_1749GT>G	c.(1747-1749)ctgfs	p.L583fs	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Frame_Shift_Del_p.L432fs	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	583					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)			GCTTCTTCCTGTTTTTTGGCA	0.522													-	91832792	T	-	91832792	7	5	195	1	0	1	0	1	0	0	0	0	15415	1725	60	0	1792	0	SV2B	15	91832792	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	928314	91832792	10698600	1286	108390											
CHD2	1106	broad.mit.edu	37	chr15	93528814	93528816	+	In_Frame_Del	DEL	TGA	TGA	-													gagagtgaaacggaagactcTgatgatgacaagaagccaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:93528813_93528815CTGA>C	uc002bsp.3	+	25	3898_3900	c.3323_3325CTGA>C	c.(3322-3327)tctgat>tCat	p.D1111del	CHD2_uc002bso.1_In_Frame_Del_p.D1111del	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1111					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)			ACGGAAGACTCTGATGATGACAA	0.537													-	93528816	TGA	-	93528814	7	5	195	1	0	1	0	1	0	0	0	0	3325	1567	55	0	3426	0	CHD2	15	93528814	In_Frame_Del	DEL	TGA	TCGA-CG-5728-01A-11D-1600-08	1696022	93528814	9002578	1287	108391											
SYNM	23336	broad.mit.edu	37	chr15	99670499	99670499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaaaacatcgttaccaGtatcctgaagcagttcactc	7	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:99670499G>A	uc002bup.2	+	6	2054	c.1934G>A	c.(1933-1935)AGT>AAT	p.S645N	SYNM_uc002buo.2_Missense_Mutation_p.S645N|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	645	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			ovary(3)|central_nervous_system(1)	4						ATCGTTACCAGTATCCTGAAG	0.493													A	99670499	G	A	99670499	3	1	195	1	0	0	0	0	1	0	0	0	15452	1029	36	4	1947	4	SYNM	15	99670499	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6141685	99670499	2860893	1288	108392											
SYNM	23336	broad.mit.edu	37	chr15	99671083	99671083	+	Frame_Shift_Del	DEL	G	G	-													ccactccagatgaacaccccGgggggcacgacagagatgac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr15:99671082_99671082CG>C	uc002bup.3	+	4	2634	c.2514_2514CG>C	c.(2512-2514)cccfs	p.P838fs	SYNM_uc002buo.3_Frame_Shift_Del_p.P838fs|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	839	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						ATGAACACCCCGGGGGGCACG	0.562													-	99671083	G	-	99671083	7	5	195	1	0	1	0	1	0	0	0	0	15452	1116	39	0	2531	0	SYNM	15	99671083	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	584	99671083	2860309	1289	108393											
MSLNL	401827	broad.mit.edu	37	chr16	830412	830412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtaggtgacagtgtgcaCgtgtaagtgacagtgtgcac	14	7	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:830412C>T	uc002cjz.1	-	3	589	c.589G>A	c.(589-591)GTG>ATG	p.V197M		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:Variant_position_missing_in_Q96KJ4_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						ACAGTGTGCACGTGTAAGTGA	0.592													T	830412	C	T	830412	3	4	195	1	0	0	0	0	1	0	0	0	9882	536	19	1	2628	1	MSLNL	16	830412	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08		830412	89524341	1290	108394											
TELO2	9894	broad.mit.edu	37	chr16	1551487	1551487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctgcgggtgacggcGcctcggaggcggggtgaggg	21	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:1551487G>A	uc002cly.2	+	10	1639	c.1348G>A	c.(1348-1350)GCC>ACC	p.A450T		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	450						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GGGTGACGGCGCCTCGGAGGC	0.687													A	1551487	G	A	1551487	3	1	195	1	0	0	0	0	1	0	0	0	15754	1087	38	1	1382	1	TELO2	16	1551487	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	721075	1551487	88803266	1291	108395											
CRAMP1L	57585	broad.mit.edu	37	chr16	1709952	1709952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggagcagtcgatgacGcccccagggaaggtggtgac	17	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:1709952G>A	uc010uvh.1	+	10	2301	c.2301G>A	c.(2299-2301)ACG>ACA	p.T767T	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	767						nucleus	DNA binding				0						AGTCGATGACGCCCCCAGGGA	0.627													A	1709952	G	A	1709952	2	1	195	1	0	0	0	0	0	0	0	1	3846	1074	38	1		1	CRAMP1L	16	1709952	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	158465	1709952	88644801	1292	108396											
RPL3L	6123	broad.mit.edu	37	chr16	2004000	2004000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagggtgtgggtcatgccCgccttgtagcccaggaaggc	16	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:2004000C>T	uc002cnh.2	-	2	200	c.153G>A	c.(151-153)GCG>GCA	p.A51A		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						GGGTCATGCCCGCCTTGTAGC	0.687													T	2004000	C	T	2004000	2	4	195	1	0	0	0	0	0	0	0	1	13594	639	23	1		1	RPL3L	16	2004000	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	294048	2004000	88350753	1293	108397											
CCDC64B	146439	broad.mit.edu	37	chr16	3085468	3085468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgagagcggcccggaCgggaagctgggcccatctgg	16	15	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:3085468C>T	uc002ctf.3	-	1	75	c.30G>A	c.(28-30)CCG>CCA	p.P10P	CCDC64B_uc002cte.3_5'Flank	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	10											0						GCGGCCCGGACGGGAAGCTGG	0.692													T	3085468	C	T	3085468	2	4	195	1	0	0	0	0	0	0	0	1	2836	523	19	1		1	CCDC64B	16	3085468	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1081468	3085468	87269285	1294	108398											
ZNF205	7755	broad.mit.edu	37	chr16	3169295	3169295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggtgcagacctcatccGtggcagcccttgggaatgtg	15	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:3169295G>A	uc002cub.2	+	7	769	c.634G>A	c.(634-636)GTG>ATG	p.V212M	ZNF205_uc002cua.2_Missense_Mutation_p.V212M	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GACCTCATCCGTGGCAGCCCT	0.642													A	3169295	G	A	3169295	3	1	195	1	0	0	0	0	1	0	0	0	17761	1145	40	1	656	1	ZNF205	16	3169295	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	83827	3169295	87185458	1295	108399											
BTBD12	84464	broad.mit.edu	37	chr16	3640549	3640549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggaagcggcacgggtgCggtggagatgcctgccaggg	19	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:3640549C>T	uc002cvp.2	-	12	3717	c.3090G>A	c.(3088-3090)CCG>CCA	p.P1030P		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1030	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GGCACGGGTGCGGTGGAGATG	0.652								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3640549	C	T	3640549	2	4	195	1	0	0	0	0	0	0	0	1	1540	755	27	1		1	BTBD12	16	3640549	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	471254	3640549	86714204	1296	108400											
BTBD12	84464	broad.mit.edu	37	chr16	3658536	3658536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatctggagcagaggcaaGcacacccccctccccattca	9	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:3658536G>A	uc002cvp.2	-	2	1057	c.430C>T	c.(430-432)CTT>TTT	p.L144F	BTBD12_uc002cvq.1_Missense_Mutation_p.L144F	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	144	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GCAGAGGCAAGCACACCCCCC	0.557								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3658536	G	A	3658536	3	1	195	1	0	0	0	0	1	0	0	0	1540	971	34	2	5130	2	BTBD12	16	3658536	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	17987	3658536	86696217	1297	108401											
C16orf5	29965	broad.mit.edu	37	chr16	4562627	4562627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctggggcatgtgtgCgtcacatccttgaagtcatt	12	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:4562627C>T	uc002cwu.2	-	5	868	c.573G>A	c.(571-573)ACG>ACA	p.T191T	C16orf5_uc002cwv.2_Silent_p.T191T|C16orf5_uc002cww.2_Silent_p.T191T|C16orf5_uc010uxl.1_Silent_p.T152T|C16orf5_uc010uxm.1_Silent_p.T112T|C16orf5_uc010btu.2_RNA	NM_013399	NP_037531	Q9H305	LITFL_HUMAN	cell death inducing protein	191					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				ovary(1)	1		Ovarian(90;0.17)				GGCATGTGTGCGTCACATCCT	0.592													T	4562627	C	T	4562627	2	4	195	1	0	0	0	0	0	0	0	1	1817	755	27	1		1	C16orf5	16	4562627	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	904091	4562627	85792126	1298	108402											
MGRN1	23295	broad.mit.edu	37	chr16	4723609	4723609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcctctgtacctcctgCgccgacacgctgcgctacca	9	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:4723609C>T	uc002cwz.2	+	10	1042	c.906C>T	c.(904-906)TGC>TGT	p.C302C	MGRN1_uc002cxa.2_Silent_p.C302C|MGRN1_uc010btx.2_Silent_p.C303C|MGRN1_uc010btw.2_Silent_p.C303C|MGRN1_uc002cxb.2_Silent_p.C341C|MGRN1_uc010uxo.1_Silent_p.C302C|MGRN1_uc010uxp.1_Silent_p.C302C|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	302	RING-type.				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|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						GTACCTCCTGCGCCGACACGC	0.632													T	4723609	C	T	4723609	2	4	195	1	0	0	0	0	0	0	0	1	9559	776	27	1		1	MGRN1	16	4723609	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	160982	4723609	85631144	1299	108403											
USP7	7874	broad.mit.edu	37	chr16	8987926	8987926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggctttgttgaagtggtCgagccctagccaaggccgag	16	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:8987926C>T	uc002czl.2	-	31	3437	c.3238G>A	c.(3238-3240)GAC>AAC	p.D1080N	USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D981N|USP7_uc002czk.2_Missense_Mutation_p.D1064N	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	1080					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			ovary(3)	3						TTGAAGTGGTCGAGCCCTAGC	0.522													T	8987926	C	T	8987926	3	4	195	1	0	0	0	0	1	0	0	0	17085	884	31	1	74	1	USP7	16	8987926	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4264317	8987926	81366827	1300	108404											
CIITA	4261	broad.mit.edu	37	chr16	11000726	11000726	+	Frame_Shift_Del	DEL	G	G	-													tgccattgcttgaaccgtccGggggatgcctatggcctgca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:11000725_11000725CG>C	uc002daj.4	+	10	1512	c.1379_1379CG>C	c.(1378-1380)ccgfs	p.P460fs	CIITA_uc002dai.4_Frame_Shift_Del_p.P459fs|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Frame_Shift_Del_p.P459fs|CIITA_uc002dah.2_Frame_Shift_Del_p.P411fs|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	459	NACHT.				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	ATP binding|activating transcription factor 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						TTGAACCGTCCGGGGGATGCC	0.612			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								-	11000726	G	-	11000726	7	5	195	1	0	1	0	1	0	0	0	0	3428	1103	39	0	1419	0	CIITA	16	11000726	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	2012800	11000726	79354027	1301	108405											
CIITA	4261	broad.mit.edu	37	chr16	11017143	11017143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcaacaacaggattcaCggatcagcctgagatgatcc	9	12	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:11017143C>T	uc002dai.3	+	19	3509	c.3376C>T	c.(3376-3378)CGG>TGG	p.R1126W	CIITA_uc002daj.3_Missense_Mutation_p.R1127W|CIITA_uc002dak.3_Missense_Mutation_p.R542W	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	1126					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)	1						ACAGGATTCACGGATCAGCCT	0.592			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								T	11017143	C	T	11017143	3	4	195	1	0	0	0	0	1	0	0	0	3428	527	19	1	3450	1	CIITA	16	11017143	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	16417	11017143	79337610	1302	108406											
SNX29	92017	broad.mit.edu	37	chr16	12162983	12162983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccagatcctggacttcGgtacaggttaatattgagaa	9	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:12162983G>A	uc002dby.3	+	3	214	c.158G>A	c.(157-159)CGG>CAG	p.R53Q	SNX29_uc010uyx.1_Missense_Mutation_p.R80Q	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	53					cell communication		phosphatidylinositol binding			ovary(1)	1						CCTGGACTTCGGTACAGGTTA	0.483													A	12162983	G	A	12162983	3	1	195	1	0	0	0	0	1	0	0	0	14898	1116	39	1	164	1	SNX29	16	12162983	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1145840	12162983	78191770	1303	108407											
PDILT	204474	broad.mit.edu	37	chr16	20386166	20386166	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaacaccaggacgctgTcaagggtgacgtggaaacgc	13	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:20386166T>A	uc002dhc.1	-	5	882	c.659A>T	c.(658-660)GAC>GTC	p.D220V		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	220					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						CAGGACGCTGTCAAGGGTGAC	0.378													A	20386166	T	A	20386166	3	1	195	1	0	0	0	0	1	0	0	0	11674	1667	58	5	1127	5	PDILT	16	20386166	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	8223183	20386166	69968587	1304	108408											
DNAH3	55567	broad.mit.edu	37	chr16	20974905	20974905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccaaatgctccatcaggCcatgcagtttgggtaaggca	11	10	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:20974905C>T	uc010vbe.1	-	53	10301	c.10301G>A	c.(10300-10302)GGC>GAC	p.G3434D	DNAH3_uc010vbd.1_Missense_Mutation_p.G869D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3434					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTCCATCAGGCCATGCAGTTT	0.547													T	20974905	C	T	20974905	3	4	195	1	0	0	0	0	1	0	0	0	4603	739	26	2	2088	2	DNAH3	16	20974905	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	588739	20974905	69379848	1305	108409											
EARS2	124454	broad.mit.edu	37	chr16	23563615	23563615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcggaggccacccagGtgcaagaagcctggagaaga	16	10	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:23563615G>A	uc002dlt.3	-	2	182	c.150C>T	c.(148-150)CAC>CAT	p.H50H	EARS2_uc002dlr.3_5'Flank|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.H50H	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	50	HIGH region.	ATP (By similarity).			glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GGCCACCCAGGTGCAAGAAGC	0.507													A	23563615	G	A	23563615	2	1	195	1	0	0	0	0	0	0	0	1	4878	1252	44	4		4	EARS2	16	23563615	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2588710	23563615	66791138	1306	108410											
RBBP6	5930	broad.mit.edu	37	chr16	24581665	24581665	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagagaaactgggaagaaAattggaagtacagaaaatat	10	3	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:24581665A>C	uc002dmh.2	+	17	4694	c.3654A>C	c.(3652-3654)AAA>AAC	p.K1218N	RBBP6_uc010vcb.1_Missense_Mutation_p.K1085N|RBBP6_uc002dmi.2_Missense_Mutation_p.K1184N|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.K1051N	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1218					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			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CTGGGAAGAAAATTGGAAGTA	0.348													C	24581665	A	C	24581665	3	2	195	1	0	0	0	0	1	0	0	0	13103	11	1	5	3774	5	RBBP6	16	24581665	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1018050	24581665	65773088	1307	108411											
GTF3C1	2975	broad.mit.edu	37	chr16	27503681	27503681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggggtgttgaggcagacGcactgcaggtcaaaccagta	15	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:27503681G>A	uc002dov.1	-	19	3169	c.3129C>T	c.(3127-3129)TGC>TGT	p.C1043C	GTF3C1_uc002dou.2_Silent_p.C1043C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1043						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGAGGCAGACGCACTGCAGGT	0.552													A	27503681	G	A	27503681	2	1	195	1	0	0	0	0	0	0	0	1	6872	1079	38	1		1	GTF3C1	16	27503681	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2922016	27503681	62851072	1308	108412											
LAT	27040	broad.mit.edu	37	chr16	28997465	28997465	+	Frame_Shift_Del	DEL	C	C	-													tgtgtcctcagacacggttgCcccctggccacctgcctacc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:28997464_28997464GC>G	uc010vdj.2	+	4	316	c.280_280GC>G	c.(280-282)gccfs	p.A94fs	NPIPL1_uc010vct.2_Intron|LAT_uc002dsb.3_Frame_Shift_Del_p.A58fs|LAT_uc002dsd.3_Frame_Shift_Del_p.A58fs|LAT_uc002dsc.3_Frame_Shift_Del_p.A58fs|LAT_uc010vdk.1_Frame_Shift_Del_p.A58fs|LAT_uc010vdl.1_Frame_Shift_Del_p.A58fs	NM_001014989	NP_001014987	O43561	LAT_HUMAN	Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA.	58					Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				AGACACGGTTGCCCCCTGGCC	0.612													-	28997465	C	-	28997465	7	5	195	1	0	1	0	1	0	0	0	0	8644	739	26	0	299	0	LAT	16	28997465	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	1493784	28997465	61357288	1309	108413											
DOC2A	8448	broad.mit.edu	37	chr16	30018218	30018218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagctgagactcagcaGgatgcggccacgctcctcca	12	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:30018218G>A	uc002dvm.2	-	8	866	c.766C>T	c.(766-768)CTG>TTG	p.L256L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Silent_p.L254L|DOC2A_uc002dvn.2_Silent_p.L256L|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Silent_p.L256L|DOC2A_uc002dvp.2_Silent_p.L256L|DOC2A_uc002dvq.2_Silent_p.L256L	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	256	C2 2.|Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						AGACTCAGCAGGATGCGGCCA	0.692													A	30018218	G	A	30018218	2	1	195	1	0	0	0	0	0	0	0	1	4683	991	35	4		4	DOC2A	16	30018218	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1020753	30018218	60336535	1310	108414											
PRSS36	146547	broad.mit.edu	37	chr16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-													gctcagctccaggagggccaGggggggcctgagtcccaggt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:31151941_31151941AG>A	uc002ebd.3	-	12	2098	c.2039_2039CT>T	c.(2038-2040)ctgfs	p.L680fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGAGGGCCAGGGGGGGCCT	0.731													-	31151942	G	-	31151942	7	5	195	1	0	1	0	1	0	0	0	0	12625	991	35	0	541	0	PRSS36	16	31151942	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	1133724	31151942	59202811	1311	108415											
ITGAX	3687	broad.mit.edu	37	chr16	31373185	31373185	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accacaagcagtagctccttCgaattggagatggcacagga	11	10	0	1	rs138230749	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:31373185C>T	uc002ebu.1	+	10	1108	c.1041C>T	c.(1039-1041)TTC>TTT	p.F347F	ITGAX_uc002ebt.2_Silent_p.F347F|ITGAX_uc010vfk.1_5'UTR	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	347	FG-GAP 3.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTAGCTCCTTCGAATTGGAGA	0.602													T	31373185	C	T	31373185	2	4	195	1	0	0	0	0	0	0	0	1	7889	883	31	1		1	ITGAX	16	31373185	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	221243	31373185	58981568	1312	108416											
TGFB1I1	7041	broad.mit.edu	37	chr16	31485238	31485238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggtgtcttgggtaccGggctctgtgagctagatcgg	16	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:31485238G>A	uc002ecd.1	+	4	291	c.265G>A	c.(265-267)GGG>AGG	p.G89R	TGFB1I1_uc002ece.1_Missense_Mutation_p.G72R|TGFB1I1_uc010caq.1_5'UTR	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	89	Transcription activation (By similarity).|Interaction with PTK2 (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						CTTGGGTACCGGGCTCTGTGA	0.592													A	31485238	G	A	31485238	3	1	195	1	0	0	0	0	1	0	0	0	15814	1116	39	1	279	1	TGFB1I1	16	31485238	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	112053	31485238	58869515	1313	108417											
SLC5A2	6524	broad.mit.edu	37	chr16	31500366	31500366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgccgcgcgttaatgaGcaggtgagcggcacgcgcgt	16	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:31500366G>T	uc002ecf.3	+	11	1465	c.1446G>T	c.(1444-1446)GAG>GAT	p.E482D	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	482	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						GCGTTAATGAGCAGGTGAGCG	0.652													T	31500366	G	T	31500366	3	4	195	1	0	0	0	0	1	0	0	0	14665	962	34	5	1488	5	SLC5A2	16	31500366	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	15128	31500366	58854387	1314	108418											
VPS35	55737	broad.mit.edu	37	chr16	46705645	46705645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcagggtcctcagagCgcagcagatgaatgaagcgg	16	9	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:46705645C>T	uc002eef.3	-	12	1595	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	VPS35_uc002eed.2_Missense_Mutation_p.R320H|VPS35_uc002eee.2_Missense_Mutation_p.R460H	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	499					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		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)				GTCCTCAGAGCGCAGCAGATG	0.463													T	46705645	C	T	46705645	3	4	195	1	0	0	0	0	1	0	0	0	17200	768	27	1	918	1	VPS35	16	46705645	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	15205279	46705645	43649108	1315	108419											
ADCY7	113	broad.mit.edu	37	chr16	50347950	50347950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctgcagggctcagcGtcgcctcagggcacgagaac	15	13	2	1	rs150764665		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:50347950G>A	uc002egd.1	+	22	3101	c.2833G>A	c.(2833-2835)GTC>ATC	p.V945I		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	945	Cytoplasmic (Potential).|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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGGGCTCAGCGTCGCCTCAGG	0.552													A	50347950	G	A	50347950	3	1	195	1	0	0	0	0	1	0	0	0	299	1145	40	1	2919	1	ADCY7	16	50347950	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3642305	50347950	40006803	1316	108420											
OGFOD1	55239	broad.mit.edu	37	chr16	56485619	56485619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttcggacgctgttacggAagaaaccttgaaaaagcagg	12	7	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:56485619A>G	uc002ejb.2	+	1	196	c.95A>G	c.(94-96)GAA>GGA	p.E32G	OGFOD1_uc002ejc.2_Intron|NUDT21_uc002eja.2_5'Flank	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	32							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			skin(1)	1					Vitamin C(DB00126)	GCTGTTACGGAAGAAACCTTG	0.622													G	56485619	A	G	56485619	3	3	195	1	0	0	0	0	1	0	0	0	10841	246	9	3	97	3	OGFOD1	16	56485619	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	6137669	56485619	33869134	1317	108421											
NUP93	9688	broad.mit.edu	37	chr16	56864512	56864512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggagacctgcttgccGcttcacaggtagttaatcga	12	10	1	1	rs145578512		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:56864512G>A	uc002eka.2	+	10	1121	c.1000G>A	c.(1000-1002)GCT>ACT	p.A334T	NUP93_uc002ekb.2_Missense_Mutation_p.A211T|NUP93_uc010vhi.1_Missense_Mutation_p.A211T	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	334					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						CCTGCTTGCCGCTTCACAGGT	0.502													A	56864512	G	A	56864512	3	1	195	1	0	0	0	0	1	0	0	0	10772	1087	38	1	1034	1	NUP93	16	56864512	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	378893	56864512	33490241	1318	108422											
NLRC5	84166	broad.mit.edu	37	chr16	57060239	57060240	+	Frame_Shift_Del	DEL	GA	GA	-													cgtccctactggacctggggGaggtggccctgaggggcctg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:57060238_57060239GGA>G	uc021tiu.1	+	4	1510_1511	c.1383_1384GGA>G	c.(1381-1386)ggggagfs	p.G461fs	NLRC5_uc021tit.1_Frame_Shift_Del_p.G461fs|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Frame_Shift_Del_p.G266fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.G266fs|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	461	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|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|RNA polymerase II core promoter sequence-specific DNA binding|protein 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)				TGGACCTGGGGGAGGTGGCCCT	0.594													-	57060240	GA	-	57060239	7	5	195	1	0	1	0	1	0	0	0	0	10470	1175	41	0	1398	0	NLRC5	16	57060239	Frame_Shift_Del	DEL	GA	TCGA-CG-5728-01A-11D-1600-08	195727	57060239	33294514	1319	108423											
DOK4	55715	broad.mit.edu	37	chr16	57509501	57509501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctccttggggagccgcGtaacacacttgacgttgctg	13	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:57509501G>A	uc010cdb.2	-	3	504	c.206C>T	c.(205-207)ACG>ATG	p.T69M	DOK4_uc002elu.1_Missense_Mutation_p.T69M|DOK4_uc002elv.3_Missense_Mutation_p.T69M	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	69	PH.						insulin receptor binding			skin(1)	1						GGGGAGCCGCGTAACACACTT	0.502													A	57509501	G	A	57509501	3	1	195	1	0	0	0	0	1	0	0	0	4699	1145	40	1	798	1	DOK4	16	57509501	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	449262	57509501	32845252	1320	108424											
KATNB1	10300	broad.mit.edu	37	chr16	57789830	57789830	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcgtcaaccagaaagcGtaagtggctgcagaggggga	14	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:57789830G>A	uc002eml.1	+	17	2017	c.1643_splice	c.e17+1	p.A548_splice		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1						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				0		all_neural(199;0.223)				ACCAGAAAGCGTAAGTGGCTG	0.622													A	57789830	G	A	57789830	5	1	195	1	0	0	0	0	0	0	1	0	7987	1159	40	1	1706	1	KATNB1	16	57789830	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	280329	57789830	32564923	1321	108425											
PRSS54	221191	broad.mit.edu	37	chr16	58318533	58318533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctttcgtgtggctgccGcattctgtcttctggagttt	10	11	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:58318533G>A	uc002enf.2	-	6	1010	c.615C>T	c.(613-615)TGC>TGT	p.C205C	PRSS54_uc002eng.2_Silent_p.C205C|PRSS54_uc010vie.1_Silent_p.C106C	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	205	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						TGTGGCTGCCGCATTCTGTCT	0.473													A	58318533	G	A	58318533	2	1	195	1	0	0	0	0	0	0	0	1	12633	1079	38	1		1	PRSS54	16	58318533	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	528703	58318533	32036220	1322	108426											
NDRG4	65009	broad.mit.edu	37	chr16	58537768	58537768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctcccccaaggggaacCgcccagccatcctcacctac	10	19	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:58537768C>T	uc002eno.2	+	2	194	c.88C>T	c.(88-90)CGC>TGC	p.R30C	NDRG4_uc002enk.2_Missense_Mutation_p.R62C|NDRG4_uc002enm.2_Missense_Mutation_p.R82C|NDRG4_uc010vif.1_Missense_Mutation_p.R62C|NDRG4_uc010cdk.2_Missense_Mutation_p.R30C|NDRG4_uc010vig.1_Missense_Mutation_p.R60C|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.R48C|NDRG4_uc002enp.2_Missense_Mutation_p.R30C|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	30					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						CAAGGGGAACCGCCCAGCCAT	0.627													T	58537768	C	T	58537768	3	4	195	1	0	0	0	0	1	0	0	0	10254	652	23	1	258	1	NDRG4	16	58537768	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	219235	58537768	31816985	1323	108427											
CMTM4	146223	broad.mit.edu	37	chr16	66670346	66670346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggatcctcatgtgcaGgttgagactgaacataatca	12	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:66670346G>T	uc002epz.2	-	2	507	c.325C>A	c.(325-327)CTG>ATG	p.L109M	CMTM4_uc002eqa.2_Missense_Mutation_p.L109M	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN	chemokine-like factor superfamily 4 isoform 1	109	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			pancreas(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTCATGTGCAGGTTGAGACTG	0.517													T	66670346	G	T	66670346	3	4	195	1	0	0	0	0	1	0	0	0	3585	991	35	5	399	5	CMTM4	16	66670346	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8132578	66670346	23684407	1324	108428											
B3GNT9	84752	broad.mit.edu	37	chr16	67183705	67183705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgaacacatctgcgtcGcccttaaaaacgaagcgcac	7	14	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:67183705G>A	uc002erf.2	-	2	1005	c.684C>T	c.(682-684)GGC>GGT	p.G228G	uc002erg.1_Silent_p.S36S	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	228	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						CATCTGCGTCGCCCTTAAAAA	0.577													A	67183705	G	A	67183705	2	1	195	1	0	0	0	0	0	0	0	1	1264	1074	38	1		1	B3GNT9	16	67183705	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	513359	67183705	23171048	1325	108429											
TRADD	8717	broad.mit.edu	37	chr16	67190446	67190448	+	In_Frame_Del	DEL	CCA	CCA	-													ctgcagagccctgtacactgCcaccttctgctgggggtgcg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:67190445_67190447GCCA>G	uc002eri.1	-	1	197_199	c.117_119TGGC>C	c.(115-120)gtggca>gtCa	p.A40del	TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_In_Frame_Del_p.A40del	NM_003789	NP_003780	Q15628	TRADD_HUMAN	Homo sapiens TNFRSF1A-associated via death domain (TRADD), mRNA.	40					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCTGTACACTGCCACCTTCTGCT	0.635											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	67190448	CCA	-	67190446	7	5	195	1	0	1	0	1	0	0	0	0	16433	739	26	0	836	0	TRADD	16	67190446	In_Frame_Del	DEL	CCA	TCGA-CG-5728-01A-11D-1600-08	6741	67190446	23164307	1326	108430											
ELMO3	79767	broad.mit.edu	37	chr16	67235944	67235944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggccctggacaacatgtTgtacttctccagaaacgcgc	10	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:67235944T>C	uc002esa.2	+	12	1317	c.1274T>C	c.(1273-1275)TTG>TCG	p.L425S	ELMO3_uc002esb.2_Missense_Mutation_p.L408S|ELMO3_uc002esc.2_Missense_Mutation_p.L259S	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	372	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GACAACATGTTGTACTTCTCC	0.662													C	67235944	T	C	67235944	3	2	195	1	0	0	0	0	1	0	0	0	5067	1821	63	3	1320	3	ELMO3	16	67235944	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	45498	67235944	23118809	1327	108431											
SLC9A5	6553	broad.mit.edu	37	chr16	67290816	67290816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccctcccgctgtaggcGtagtcctgcagacctgggtg	13	15	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:67290816G>A	uc002esm.2	+	7	1198	c.1135G>A	c.(1135-1137)GTA>ATA	p.V379I	SLC9A5_uc010cee.2_Missense_Mutation_p.V84I|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	379	Helical; (Potential).				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGCTGTAGGCGTAGTCCTGCA	0.622													A	67290816	G	A	67290816	3	1	195	1	0	0	0	0	1	0	0	0	14717	1145	40	1	1161	1	SLC9A5	16	67290816	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	54872	67290816	23063937	1328	108432											
SLC9A5	6553	broad.mit.edu	37	chr16	67304676	67304676	+	Frame_Shift_Del	DEL	C	C	-													gcccaagcccacgaatcattCccccctccccaacctgtgca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:67304675_67304675TC>T	uc002esm.3	+	15	2316	c.2253_2253TC>T	c.(2251-2253)attfs	p.I751fs	SLC9A5_uc010cee.3_Frame_Shift_Del_p.I456fs|SLC9A5_uc010vji.2_Frame_Shift_Del_p.I255fs	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	751					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)		CACGAATCATTCCCCCCTCCC	0.537													-	67304676	C	-	67304676	7	5	195	1	0	1	0	1	0	0	0	0	14717	855	30	0	2316	0	SLC9A5	16	67304676	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	13860	67304676	23050077	1329	108433											
PRMT7	54496	broad.mit.edu	37	chr16	68373230	68373230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaatataaacttaggaaaaTtgtgaggccgtgccccacag	9	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:68373230T>A	uc002evy.1	+	8	786	c.510T>A	c.(508-510)AAT>AAA	p.N170K	PRMT7_uc002evx.1_Missense_Mutation_p.N170K|PRMT7_uc010vlg.1_Missense_Mutation_p.N120K|PRMT7_uc002evz.1_Missense_Mutation_p.N16K	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	170					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				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTTAGGAAAATTGTGAGGCCG	0.443													A	68373230	T	A	68373230	3	1	195	1	0	0	0	0	1	0	0	0	12541	1490	52	5	532	5	PRMT7	16	68373230	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1068554	68373230	21981523	1330	108434											
CHTF8	54921	broad.mit.edu	37	chr16	69155070	69155070	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgccaggcctccagccctCgcactgcaagcaaagggctg	11	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:69155070C>T	uc002ewn.1	-	3	128	c.27G>A	c.(25-27)GCG>GCA	p.A9A	CHTF8_uc002ewm.1_5'UTR|CHTF8_uc002ewo.1_5'UTR|CHTF8_uc002ewp.1_Silent_p.A9A	NM_001040146	NP_001035236	P0CG13	CTF8_HUMAN	chromosome transmission fidelity factor 8	9					cell cycle|DNA replication	nucleus	DNA binding				0						CTCCAGCCCTCGCACTGCAAG	0.547													T	69155070	C	T	69155070	2	4	195	1	0	0	0	0	0	0	0	1	3415	871	31	1		1	CHTF8	16	69155070	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	781840	69155070	21199683	1331	108435											
NFAT5	10725	broad.mit.edu	37	chr16	69681374	69681374	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggccgggggtcaaacgaCgagattgtgaagaatctaat	14	6	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:69681374C>T	uc002exm.1	+	3	1851	c.643C>T	c.(643-645)CGA>TGA	p.R215*	NFAT5_uc002exh.1_Intron|NFAT5_uc002exi.2_Nonsense_Mutation_p.R139*|NFAT5_uc002exj.1_Nonsense_Mutation_p.R139*|NFAT5_uc002exk.1_Nonsense_Mutation_p.R139*|NFAT5_uc002exl.1_Nonsense_Mutation_p.R233*|NFAT5_uc002exn.1_Nonsense_Mutation_p.R233*	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	215					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GGTCAAACGACGAGATTGTGA	0.448													T	69681374	C	T	69681374	4	4	195	1	0	0	0	0	0	1	0	0	10360	528	19	1	711	1	NFAT5	16	69681374	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	526304	69681374	20673379	1332	108436											
DHX38	9785	broad.mit.edu	37	chr16	72141255	72141255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctctacacccagagcGcctacaagaatgagctcctg	10	14	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:72141255G>A	uc002fcb.2	+	20	2972	c.2617G>A	c.(2617-2619)GCC>ACC	p.A873T	DHX38_uc010vmp.1_Missense_Mutation_p.A185T	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	873	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			skin(1)	1		Ovarian(137;0.125)				CACCCAGAGCGCCTACAAGAA	0.592													A	72141255	G	A	72141255	3	1	195	1	0	0	0	0	1	0	0	0	4511	1087	38	1	2691	1	DHX38	16	72141255	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2459881	72141255	18213498	1333	108437											
ZFHX3	463	broad.mit.edu	37	chr16	72834006	72834006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaacatgctgcttggcAtcaccatctcaggggtggtc	14	10	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:72834006A>G	uc002fck.2	-	8	4560	c.3887T>C	c.(3886-3888)ATG>ACG	p.M1296T	ZFHX3_uc002fcl.2_Missense_Mutation_p.M382T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1296					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCTGCTTGGCATCACCATCTC	0.443													G	72834006	A	G	72834006	3	3	195	1	0	0	0	0	1	0	0	0	17631	217	8	3	7236	3	ZFHX3	16	72834006	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	692751	72834006	17520747	1334	108438											
ZFHX3	463	broad.mit.edu	37	chr16	72993954	72993954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgggtttgtcagggaggtGggtgctgttgagttcagtcc	17	6	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:72993954G>T	uc002fck.2	-	2	764	c.91C>A	c.(91-93)CAC>AAC	p.H31N	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	31					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TCAGGGAGGTGGGTGCTGTTG	0.622													T	72993954	G	T	72993954	3	4	195	1	0	0	0	0	1	0	0	0	17631	1348	47	5	11056	5	ZFHX3	16	72993954	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	159948	72993954	17360799	1335	108439											
PSMD7	5713	broad.mit.edu	37	chr16	74335456	74335457	+	Frame_Shift_Ins	INS	-	-	G													tttttttccttcctagccagINSggaaagaatagttggctggt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:74335455_74335456A>AG	uc002fcq.3	+	3	402_403	c.262_263A>AG	c.(262-264)aggfs	p.R88fs	PSMD7_uc010vmr.2_Frame_Shift_Ins_p.R11fs	NM_002811	NP_002802	P51665	PSD7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (PSMD7), mRNA.	88	MPN.				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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CTTCCTAGCCAGGGAAAGAATA	0.386													G	74335457	-	G	74335456	7	5	195	1	0	1	1	0	0	0	0	0	12703	1000	35	0	277	0	PSMD7	16	74335456	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1341502	74335456	16019297	1336	108440											
WWOX	51741	broad.mit.edu	37	chr16	79245555	79245555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgtcccagaactggaGggtctgggagggatgtactt	16	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:79245555G>A	uc002ffk.2	+	9	1232	c.1107G>A	c.(1105-1107)GAG>GAA	p.E369E	WWOX_uc010vnk.1_Silent_p.E256E|WWOX_uc002ffl.2_Silent_p.E189E|WWOX_uc010che.2_Missense_Mutation_p.G154R	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	369	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				0		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)		CAGAACTGGAGGGTCTGGGAG	0.537													A	79245555	G	A	79245555	2	1	195	1	0	0	0	0	0	0	0	1	17411	991	35	4		4	WWOX	16	79245555	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4910099	79245555	11109198	1337	108441											
CDYL2	124359	broad.mit.edu	37	chr16	80638416	80638416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatttcaggaagctccGcacgaggcatttggactcct	10	12	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:80638416G>A	uc002ffs.2	-	7	1495	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	464						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						AGGAAGCTCCGCACGAGGCAT	0.547													A	80638416	G	A	80638416	3	1	195	1	0	0	0	0	1	0	0	0	3186	1086	38	1	134	1	CDYL2	16	80638416	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1392861	80638416	9716337	1338	108442											
GAN	8139	broad.mit.edu	37	chr16	81398967	81398967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcaggtttggagcggtGgcctgtggagttgctatgga	16	7	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:81398967G>A	uc002fgo.2	+	9	1534	c.1386G>A	c.(1384-1386)GTG>GTA	p.V462V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	462	Kelch 4.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				TTGGAGCGGTGGCCTGTGGAG	0.542													A	81398967	G	A	81398967	2	1	195	1	0	0	0	0	0	0	0	1	6232	1335	47	4		4	GAN	16	81398967	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	760551	81398967	8955786	1339	108443											
TAF1C	9013	broad.mit.edu	37	chr16	84217343	84217343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaggcccaggggttgcCggctcccacagcaggtcctt	16	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:84217343C>T	uc002fhn.2	-	3	408	c.180G>A	c.(178-180)CCG>CCA	p.P60P	TAF1C_uc002fhm.2_5'UTR|TAF1C_uc010vnx.1_Silent_p.P60P|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.P60P	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	60					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			ovary(1)	1						CAGGGGTTGCCGGCTCCCACA	0.527													T	84217343	C	T	84217343	2	4	195	1	0	0	0	0	0	0	0	1	15518	639	23	1		1	TAF1C	16	84217343	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2818376	84217343	6137410	1340	108444											
ADAD2	161931	broad.mit.edu	37	chr16	84227613	84227613	+	Splice_Site	DEL	A	A	-													aaatgatactgtttcataggAaaagtgttcaaatatagagc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:84227612_84227612GA>G	uc002fhq.2	+	2	533	c.419_splice	c.e2-1	p.G140_splice	ADAD2_uc002fhr.2_Intron|AK123582_uc002fhs.1_3'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	140	DRBM.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTTTCATAGGAAAAGTGTTC	0.438													-	84227613	A	-	84227613	8	5	195	1	0	1	0	1	0	0	1	0	232	260	9	0	426	0	ADAD2	16	84227613	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	10270	84227613	6127140	1341	108445											
FOXF1	2294	broad.mit.edu	37	chr16	86544680	86544680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaaccacctcccggacAcctacggcttccagggctcg	9	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:86544680A>G	uc002fjl.2	+	1	548	c.505A>G	c.(505-507)ACC>GCC	p.T169A	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	169					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				0						CCTCCCGGACACCTACGGCTT	0.687													G	86544680	A	G	86544680	3	3	195	1	0	0	0	0	1	0	0	0	6005	159	6	3	507	3	FOXF1	16	86544680	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2317067	86544680	3810073	1342	108446											
MTHFSD	64779	broad.mit.edu	37	chr16	86575788	86575788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggcatattccagatcGgcgtagccttctcccttccc	7	15	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:86575788G>A	uc002fjn.2	-	6	525	c.474C>T	c.(472-474)GCC>GCT	p.A158A	MTHFSD_uc010voo.1_Silent_p.A138A|MTHFSD_uc002fjo.2_5'UTR|MTHFSD_uc002fjm.2_Silent_p.A157A|MTHFSD_uc010vop.1_5'UTR|MTHFSD_uc010voq.1_Silent_p.A157A|MTHFSD_uc010vor.1_Silent_p.A158A|MTHFSD_uc002fjp.2_Silent_p.A138A	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	158					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						ATTCCAGATCGGCGTAGCCTT	0.567													A	86575788	G	A	86575788	2	1	195	1	0	0	0	0	0	0	0	1	9933	1103	39	1		1	MTHFSD	16	86575788	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	31108	86575788	3778965	1343	108447											
ZC3H18	124245	broad.mit.edu	37	chr16	88695190	88695190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgataaaggaagcaggaagCgctatgaaccatcagacaag	11	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:88695190C>T	uc002fky.2	+	16	2694	c.2494C>T	c.(2494-2496)CGC>TGC	p.R832C	ZC3H18_uc010voz.1_Missense_Mutation_p.R856C|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.R102C	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	832						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAGCAGGAAGCGCTATGAACC	0.642													T	88695190	C	T	88695190	3	4	195	1	0	0	0	0	1	0	0	0	17565	768	27	1	2552	1	ZC3H18	16	88695190	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2119402	88695190	1659563	1344	108448											
SNAI3	333929	broad.mit.edu	37	chr16	88748042	88748042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggctggggaaggtcacCgggcacagaaggggcctcct	17	12	1	1	rs45506693		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr16:88748042C>T	uc002flj.2	-	2	225	c.157G>A	c.(157-159)GGT>AGT	p.G53S	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	53					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGAAGGTCACCGGGCACAGAA	0.687													T	88748042	C	T	88748042	3	4	195	1	0	0	0	0	1	0	0	0	14828	652	23	1	729	1	SNAI3	16	88748042	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	52852	88748042	1606711	1345	108449											
GLOD4	51031	broad.mit.edu	37	chr17	679152	679152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctggctagaagcgagcGtgattccctacaacaaacaa	9	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:679152G>A	uc002frv.2	-	5	390	c.314C>T	c.(313-315)ACG>ATG	p.T105M	GLOD4_uc002frt.2_Missense_Mutation_p.T34M|GLOD4_uc002fru.2_Missense_Mutation_p.T90M|GLOD4_uc010vqc.1_Missense_Mutation_p.T81M	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	105						mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAAGCGAGCGTGATTCCCTA	0.493													A	679152	G	A	679152	3	1	195	1	0	0	0	0	1	0	0	0	6450	1145	40	1	651	1	GLOD4	17	679152	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08		679152	80516058	1346	108450											
YWHAE	7531	broad.mit.edu	37	chr17	1264466	1264466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctaagcgaataggatgCgttggtggaagttctgtcat	13	6	2	1	rs146808095	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:1264466C>T	uc002fsj.2	-	4	650	c.498G>A	c.(496-498)ACG>ACA	p.T166T	YWHAE_uc002fsk.2_Silent_p.T144T|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	166					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GAATAGGATGCGTTGGTGGAA	0.463													T	1264466	C	T	1264466	2	4	195	1	0	0	0	0	0	0	0	1	17499	755	27	1		1	YWHAE	17	1264466	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	585314	1264466	79930744	1347	108451											
MYO1C	4641	broad.mit.edu	37	chr17	1373490	1373490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcagggcaggtgggggCgtgggccacgaggtgtccag	20	10	1	0	rs139792172		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:1373490C>T	uc002fsp.2	-	24	2725	c.2505G>A	c.(2503-2505)ACG>ACA	p.T835T	MYO1C_uc002fsn.2_Silent_p.T816T|MYO1C_uc002fso.2_Silent_p.T800T|MYO1C_uc010vqj.1_Silent_p.T800T	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	835					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				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGTGGGGGCGTGGGCCACG	0.597													T	1373490	C	T	1373490	2	4	195	1	0	0	0	0	0	0	0	1	10070	755	27	1		1	MYO1C	17	1373490	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	109024	1373490	79821720	1348	108452											
RILP	83547	broad.mit.edu	37	chr17	1549887	1549887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcatcctcagaggattcaGctttaccccgataccatagg	7	13	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:1549887G>T	uc002ftd.2	-	8	1349	c.1055C>A	c.(1054-1056)GCT>GAT	p.A352D	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	352					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGAGGATTCAGCTTTACCCCG	0.582													T	1549887	G	T	1549887	3	4	195	1	0	0	0	0	1	0	0	0	13360	971	34	5	154	5	RILP	17	1549887	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	176397	1549887	79645323	1349	108453											
WDR81	124997	broad.mit.edu	37	chr17	1637274	1637274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagagcttcccgggccactCgggggccgtcaagtgcgtgg	17	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:1637274C>T	uc002fti.2	+	7	1523	c.1262C>T	c.(1261-1263)TCG>TTG	p.S421L	WDR81_uc002fth.2_Missense_Mutation_p.S597L|WDR81_uc010vqp.1_Missense_Mutation_p.S445L|WDR81_uc002ftj.2_Missense_Mutation_p.S1648L|WDR81_uc010vqq.1_Missense_Mutation_p.S279L	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	421										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGGGCCACTCGGGGGCCGTC	0.637													T	1637274	C	T	1637274	3	4	195	1	0	0	0	0	1	0	0	0	17327	893	31	1	5031	1	WDR81	17	1637274	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	87387	1637274	79557936	1350	108454											
DPH1	1801	broad.mit.edu	37	chr17	1936833	1936834	+	Frame_Shift_Ins	INS	-	-	C													gccgcgtggccaatcagatcINSccccctgagatcctgaagaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:1936832_1936833T>TC	uc010vqs.2	+	0	146_147	c.140_141T>TC	c.(139-141)atcfs	p.I47fs	DPH1_uc002fts.3_Frame_Shift_Ins_p.I37fs|DPH1_uc002ftt.3_Frame_Shift_Ins_p.I32fs|DPH1_uc010cjx.3_5'UTR	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	37					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		p.I37I(1)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCAATCAGATCCCCCCTGAGA	0.559													C	1936834	-	C	1936833	7	5	195	1	0	1	1	0	0	0	0	0	4719	845	30	0	117	0	DPH1	17	1936833	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	299559	1936833	79258377	1351	108455											
SRR	63826	broad.mit.edu	37	chr17	2222212	2222212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaattgtatactgtgaaCctagtgatgaggtaaggaga	12	5	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:2222212C>T	uc002fue.1	+	4	456	c.388C>T	c.(388-390)CCT>TCT	p.P130S	SRR_uc002fui.1_5'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	130					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATACTGTGAACCTAGTGATGA	0.378													T	2222212	C	T	2222212	3	4	195	1	0	0	0	0	1	0	0	0	15165	507	18	4	398	4	SRR	17	2222212	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	285379	2222212	78972998	1352	108456											
KIAA0664	23277	broad.mit.edu	37	chr17	2594065	2594066	+	Frame_Shift_Ins	INS	-	-	T													ctttcagattctccaggtctINSttttggctgaggataagggt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:2594064_2594065C>CT	uc002fuy.1	-	25	3839_3840	c.3753_3754G>AG	c.(3751-3756)aaagacfs	p.K1251fs	KIAA0664_uc002fux.1_Frame_Shift_Ins_p.K1184fs|KIAA0664_uc010ckc.1_3'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	1251							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						TTCTCCAGGTCTTTTTGGCTGA	0.639													T	2594066	-	T	2594065	7	5	195	1	0	1	1	0	0	0	0	0	8189	1606	56	0	180	0	KIAA0664	17	2594065	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	371853	2594065	78601145	1353	108457											
TRPV3	162514	broad.mit.edu	37	chr17	3432285	3432285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtcagcatctcatgcCggttctaggggtagaatgcc	13	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:3432285C>T	uc002fvt.1	-	10	1569	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.R400Q|TRPV3_uc010vri.1_Missense_Mutation_p.R371Q|TRPV3_uc010vrj.1_Missense_Mutation_p.R400Q|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.R400Q|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.R416Q|TRPV3_uc002fvu.2_Missense_Mutation_p.R416Q|TRPV3_uc010vrn.1_5'UTR	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	416	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CATCTCATGCCGGTTCTAGGG	0.532													T	3432285	C	T	3432285	3	4	195	1	0	0	0	0	1	0	0	0	16594	652	23	1	1161	1	TRPV3	17	3432285	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	838220	3432285	77762925	1354	108458											
P2RX1	5023	broad.mit.edu	37	chr17	3819462	3819462	+	Frame_Shift_Del	DEL	G	G	-													attacgcaccagcaccatgcGgggggtgtcatactcgaaga					rs35715771		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:3819461_3819461CG>C	uc002fww.3	-	0	500	c.59_59CG>G	c.(58-60)cgcfs	p.R20fs	P2RX1_uc010ckm.1_5'UTR	NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	20					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGCACCATGCGGGGGGTGTC	0.652													-	3819462	G	-	3819462	7	5	195	1	0	1	0	1	0	0	0	0	11339	1116	39	0	1189	0	P2RX1	17	3819462	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	387177	3819462	77375748	1355	108459											
ATP2A3	489	broad.mit.edu	37	chr17	3850844	3850844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatgtagtgatgacagcCgggaggccctcggggatggc	18	9	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:3850844C>T	uc002fxb.1	-	8	1087	c.936G>A	c.(934-936)CCG>CCA	p.P312P	ATP2A3_uc002fwx.1_Silent_p.P312P|ATP2A3_uc002fwy.1_Silent_p.P312P|ATP2A3_uc002fwz.1_Silent_p.P312P|ATP2A3_uc002fxa.1_Silent_p.P312P|ATP2A3_uc002fxc.1_Silent_p.P312P|ATP2A3_uc002fxd.1_Silent_p.P312P	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	312	Helical; Name=4; (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGATGACAGCCGGGAGGCCCT	0.697													T	3850844	C	T	3850844	2	4	195	1	0	0	0	0	0	0	0	1	1138	639	23	1		1	ATP2A3	17	3850844	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	31382	3850844	77344366	1356	108460											
CAMTA2	23125	broad.mit.edu	37	chr17	4883674	4883674	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcttgaagaaccccctcGagaagtgggagggctaggtc	13	11	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:4883674G>A	uc002gah.1	-	9	1051	c.943C>T	c.(943-945)CGA>TGA	p.R315*	CAMTA2_uc010cku.1_Nonsense_Mutation_p.R338*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.R314*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.R317*|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Nonsense_Mutation_p.R128*	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	315					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GAACCCCCTCGAGAAGTGGGA	0.592											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4883674	G	A	4883674	4	1	195	1	0	0	0	0	0	1	0	0	2614	1066	37	1	2775	1	CAMTA2	17	4883674	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1032830	4883674	76311536	1357	108461											
C1QBP	708	broad.mit.edu	37	chr17	5337060	5337060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctttataacttcaaccaCgaaattgggagttgatgtca	7	7	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:5337060C>T	uc002gby.1	-	4	583	c.505G>A	c.(505-507)GTG>ATG	p.V169M		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding	169					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				ovary(1)	1						ACTTCAACCACGAAATTGGGA	0.473													T	5337060	C	T	5337060	3	4	195	1	0	0	0	0	1	0	0	0	1956	536	19	1	355	1	C1QBP	17	5337060	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	453386	5337060	75858150	1358	108462											
NLRP1	22861	broad.mit.edu	37	chr17	5418368	5418368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaaagtgcagcaactgCggggcatccagaggtgaagg	14	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:5418368C>T	uc002gci.2	-	17	4683	c.4128G>A	c.(4126-4128)CCG>CCA	p.P1376P	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Silent_p.P1332P|NLRP1_uc002gcj.2_Silent_p.P1346P|NLRP1_uc002gcl.2_Silent_p.P1302P|NLRP1_uc002gch.3_Silent_p.P1332P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1376	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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GCAGCAACTGCGGGGCATCCA	0.562													T	5418368	C	T	5418368	2	4	195	1	0	0	0	0	0	0	0	1	10471	755	27	1		1	NLRP1	17	5418368	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	81308	5418368	75776842	1359	108463											
GPS2	2874	broad.mit.edu	37	chr17	7216419	7216419	+	Frame_Shift_Del	DEL	G	G	-													aggggctggatgcagagcctGggggtgcatggggcgcagag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:7216418_7216418TG>T	uc002gfx.1	-	9	1222	c.830_830CA>A	c.(829-831)cagfs	p.Q277fs	GPS2_uc002gfw.1_Frame_Shift_Del_p.Q239fs|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_Frame_Shift_Del_p.Q277fs	NM_004489	NP_004480	Q13227	GPS2_HUMAN	Homo sapiens G protein pathway suppressor 2 (GPS2), mRNA.	277					JNK cascade|cell cycle|inactivation of MAPK activity|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)				ATGCAGAGCCTGGGGGTGCAT	0.567													-	7216419	G	-	7216419	7	5	195	1	0	1	0	1	0	0	0	0	6733	1357	47	0	162	0	GPS2	17	7216419	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	1798051	7216419	73978791	1360	108464											
CHD3	1107	broad.mit.edu	37	chr17	7794025	7794025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagaagaagacaaagcGgcggaaaaagggggagggag	19	3	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:7794025G>A	uc002gje.2	+	3	500	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	CHD3_uc002gjd.2_Missense_Mutation_p.R176Q|CHD3_uc002gjf.2_Missense_Mutation_p.R117Q|CHD3_uc002gjg.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	117					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(1)	1		Prostate(122;0.202)				AAGACAAAGCGGCGGAAAAAG	0.517													A	7794025	G	A	7794025	3	1	195	1	0	0	0	0	1	0	0	0	3326	1116	39	1	641	1	CHD3	17	7794025	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	577606	7794025	73401185	1361	108465											
CHD3	1107	broad.mit.edu	37	chr17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-													atggaaatccagatgtcccaCccccccgtcctcttcaaggc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	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)				CAGATGTCCCACCCCCCCGTC	0.577													-	7798765	C	-	7798765	7	5	195	1	0	1	0	1	0	0	0	0	3326	507	18	0	1931	0	CHD3	17	7798765	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	4740	7798765	73396445	1362	108466											
CHD3	1107	broad.mit.edu	37	chr17	7803219	7803219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taattatgttggcagagggaGgcacaggtgaagttccatgt	14	5	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:7803219G>T	uc002gje.2	+	16	2700	c.2550G>T	c.(2548-2550)GAG>GAT	p.E850D	CHD3_uc002gjd.2_Missense_Mutation_p.E909D|CHD3_uc002gjf.2_Missense_Mutation_p.E850D	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	850	Helicase ATP-binding.				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(1)	1		Prostate(122;0.202)				GGCAGAGGGAGGCACAGGTGA	0.527													T	7803219	G	T	7803219	3	4	195	1	0	0	0	0	1	0	0	0	3326	991	35	5	2893	5	CHD3	17	7803219	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4454	7803219	73391991	1363	108467											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215418	8215418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagccccctcggatcatcCgcccccgccctccttctcgt	7	21	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:8215418C>T	uc002glc.2	+	2	182	c.61C>T	c.(61-63)CGC>TGC	p.R21C	ARHGEF15_uc002glb.1_Missense_Mutation_p.R21C|ARHGEF15_uc002gld.2_Missense_Mutation_p.R21C|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R21C	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	21	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCGGATCATCCGCCCCCGCCC	0.622													T	8215418	C	T	8215418	3	4	195	1	0	0	0	0	1	0	0	0	898	652	23	1	63	1	ARHGEF15	17	8215418	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	412199	8215418	72979792	1364	108468											
MYH10	4628	broad.mit.edu	37	chr17	8396271	8396273	+	In_Frame_Del	DEL	CTT	CTT	-													gcctccgcgtccttcagaagCttcttcttggcttcttccag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:8396270_8396272GCTT>G	uc002glm.3	-	32	4376_4378	c.4280_4282AAGC>C	c.(4279-4284)aagctt>aCtt	p.1427_1428KL>T	MYH10_uc002gll.3_In_Frame_Del_p.1396_1397KL>T|MYH10_uc010cnx.3_In_Frame_Del_p.1405_1406KL>T	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1396					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|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						TCCTTCAGAAGCTTCTTCTTGGC	0.522													-	8396273	CTT	-	8396271	7	5	195	1	0	1	0	1	0	0	0	0	10030	796	28	0	1786	0	MYH10	17	8396271	In_Frame_Del	DEL	CTT	TCGA-CG-5728-01A-11D-1600-08	180853	8396271	72798939	1365	108469											
MYH10	4628	broad.mit.edu	37	chr17	8404186	8404186	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagctcctccagggcTgttgcgtgtctttgtctcat	11	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:8404186T>C	uc002gll.2	-	27	3705	c.3609A>G	c.(3607-3609)ACA>ACG	p.T1203T	MYH10_uc002glm.2_Silent_p.T1234T|MYH10_uc010cnx.2_Silent_p.T1212T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1203	Potential.				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			ovary(2)	2						CCTCCAGGGCTGTTGCGTGTC	0.542													C	8404186	T	C	8404186	2	2	195	1	0	0	0	0	0	0	0	1	10030	1567	55	3		3	MYH10	17	8404186	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	7915	8404186	72791024	1366	108470											
RCVRN	5957	broad.mit.edu	37	chr17	9804356	9804356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcggctcgcttttccGgcgtgttttcatcgtctgga	10	12	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:9804356G>A	uc002gme.1	-	2	630	c.443C>T	c.(442-444)CCG>CTG	p.P148L		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	148	EF-hand 4.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						TCGCTTTTCCGGCGTGTTTTC	0.433													A	9804356	G	A	9804356	3	1	195	1	0	0	0	0	1	0	0	0	13186	1116	39	1	167	1	RCVRN	17	9804356	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1400170	9804356	71390854	1367	108471											
DNAH9	1770	broad.mit.edu	37	chr17	11648122	11648122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcccacaggatcactaCgactggggcctacgggccat	11	15	1	0	rs138108837	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:11648122C>T	uc002gne.2	+	31	6188	c.6120C>T	c.(6118-6120)TAC>TAT	p.Y2040Y	DNAH9_uc010coo.2_Silent_p.Y1334Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2040	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		AGGATCACTACGACTGGGGCC	0.552													T	11648122	C	T	11648122	2	4	195	1	0	0	0	0	0	0	0	1	4608	547	19	1		1	DNAH9	17	11648122	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1843766	11648122	69547088	1368	108472											
MAP2K4	6416	broad.mit.edu	37	chr17	12016623	12016623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcggcatcagtggacaGcttgtggactctattgccaa	11	10	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:12016623G>A	uc002gnj.2	+	7	828	c.759G>A	c.(757-759)CAG>CAA	p.Q253Q	MAP2K4_uc002gnk.2_Silent_p.Q264Q|MAP2K4_uc010vvi.1_Silent_p.Q135Q|MAP2K4_uc010vvj.1_Silent_p.Q125Q	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	253	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.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		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)		TCAGTGGACAGCTTGTGGACT	0.428			D|Mis|N		pancreatic|breast|colorectal								A	12016623	G	A	12016623	2	1	195	1	0	0	0	0	0	0	0	1	9239	962	34	2		2	MAP2K4	17	12016623	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	368501	12016623	69178587	1369	108473											
MAP2K4	6416	broad.mit.edu	37	chr17	12028690	12028690	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttggggatcacattggTatgtttatgctgattcaacc	11	6	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:12028690T>C	uc002gnj.2	+	8	960	c.891_splice	c.e8+2	p.L297_splice	MAP2K4_uc002gnk.2_Splice_Site_p.L308_splice|MAP2K4_uc010vvi.1_Splice_Site_p.L179_splice|MAP2K4_uc010vvj.1_Splice_Site_p.L169_splice	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						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.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		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)		ATCACATTGGTATGTTTATGC	0.403			D|Mis|N		pancreatic|breast|colorectal								C	12028690	T	C	12028690	5	2	195	1	0	0	0	0	0	0	1	0	9239	1652	57	3	923	3	MAP2K4	17	12028690	Splice_Site	SNP	T	TCGA-CG-5728-01A-11D-1600-08	12067	12028690	69166520	1370	108474											
COX10	1352	broad.mit.edu	37	chr17	14110390	14110390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctcctacctcggcttcCgcttctacgtggacgcagac	8	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:14110390C>T	uc002gof.3	+	7	1396	c.1192C>T	c.(1192-1194)CGC>TGC	p.R398C	COX10_uc010vvs.1_Missense_Mutation_p.R181C|COX10_uc010vvt.1_Missense_Mutation_p.R206C	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	398					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCTCGGCTTCCGCTTCTACGT	0.622													T	14110390	C	T	14110390	3	4	195	1	0	0	0	0	1	0	0	0	3762	652	23	1	1218	1	COX10	17	14110390	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2081700	14110390	67084820	1371	108475											
C17orf76	388341	broad.mit.edu	37	chr17	16365691	16365691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctagcgaggtcgactccaTgcccaggtcctgcaagagca	12	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:16365691T>C	uc010cph.1	-	2	432	c.256A>G	c.(256-258)ATG>GTG	p.M86V	C17orf76_uc002gqh.2_Missense_Mutation_p.M86V|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	hypothetical protein LOC388341 isoform 1	86											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GTCGACTCCATGCCCAGGTCC	0.612													C	16365691	T	C	16365691	3	2	195	1	0	0	0	0	1	0	0	0	1881	1464	51	3	790	3	C17orf76	17	16365691	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2255301	16365691	64829519	1372	108476											
MYO15A	51168	broad.mit.edu	37	chr17	18062941	18062941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgaggttcatgggggAtgccccactgaagggccaga	15	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:18062941A>G	uc010vxh.1	+	54	9589	c.9251A>G	c.(9250-9252)GAT>GGT	p.D3084G	MYO15A_uc010vxi.1_Missense_Mutation_p.D348G|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Missense_Mutation_p.D73G|MYO15A_uc002gsl.2_Missense_Mutation_p.D6G|MYO15A_uc010vxm.1_Missense_Mutation_p.D6G|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.2_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3084	Tail.|MyTH4 2.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TTCATGGGGGATGCCCCACTG	0.587													G	18062941	A	G	18062941	3	3	195	1	0	0	0	0	1	0	0	0	10063	333	12	3	9461	3	MYO15A	17	18062941	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1697250	18062941	63132269	1373	108477											
SMCR8	140775	broad.mit.edu	37	chr17	18219725	18219725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggattacaccaggacaGtgctacacacagaaacggag	10	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:18219725G>A	uc002gsy.3	+	1	1132	c.622G>A	c.(622-624)GTG>ATG	p.V208M		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	208										central_nervous_system(1)	1						CACCAGGACAGTGCTACACAC	0.458													A	18219725	G	A	18219725	3	1	195	1	0	0	0	0	1	0	0	0	14792	1029	36	4	624	4	SMCR8	17	18219725	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	156784	18219725	62975485	1374	108478											
EPN2	22905	broad.mit.edu	37	chr17	19232950	19232951	+	Frame_Shift_Ins	INS	-	-	A													ttgacaaccttcggacttcaINSaaaaaaacaggtatgtacag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:19232949_19232950C>CA	uc002gvd.4	+	8	1848_1849	c.1400_1401C>CA	c.(1399-1401)tcafs	p.S467fs	EPN2_uc010cql.1_Frame_Shift_Ins_p.S176fs|EPN2_uc002gve.4_Frame_Shift_Ins_p.S410fs|EPN2_uc002gvf.4_Frame_Shift_Ins_p.S182fs|EPN2_uc010vyo.2_Frame_Shift_Ins_p.S175fs|EPN2_uc002gvh.1_Frame_Shift_Ins_p.S467fs|EPN2_uc010vyp.2_Frame_Shift_Ins_p.S403fs|EPN2_uc010vyq.2_Frame_Shift_Ins_p.S404fs|EPN2_uc002gvj.3_Frame_Shift_Ins_p.S130fs	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	467	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCGGACTTCAAAAAAAACAG	0.396													A	19232951	-	A	19232950	7	5	195	1	0	1	1	0	0	0	0	0	5186	117	5	0	1427	0	EPN2	17	19232950	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1013225	19232950	61962260	1375	108479											
AKAP10	11216	broad.mit.edu	37	chr17	19839741	19839741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcttggagggagaagTacctatggtaaaaagatatc	14	4	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:19839741T>C	uc002gwo.2	-	9	1462	c.1325A>G	c.(1324-1326)TAC>TGC	p.Y442C	AKAP10_uc002gwp.1_Missense_Mutation_p.Y442C|AKAP10_uc010cqw.1_Missense_Mutation_p.Y442C	NM_007202	NP_009133	O43572	AKA10_HUMAN	A-kinase anchor protein 10 precursor	442	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			skin(1)	1	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					GAGGGAGAAGTACCTATGGTA	0.413													C	19839741	T	C	19839741	3	2	195	1	0	0	0	0	1	0	0	0	446	1638	57	3	691	3	AKAP10	17	19839741	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	606791	19839741	61355469	1376	108480											
SUPT6H	6830	broad.mit.edu	37	chr17	27016406	27016406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtccttgatggttccCgtgtccaccctgagacttat	9	11	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:27016406C>T	uc002hby.2	+	25	3259	c.3169C>T	c.(3169-3171)CGT>TGT	p.R1057C	SUPT6H_uc010crt.2_Missense_Mutation_p.R1057C|SUPT6H_uc002hbz.1_5'UTR	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1057					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TGATGGTTCCCGTGTCCACCC	0.448													T	27016406	C	T	27016406	3	4	195	1	0	0	0	0	1	0	0	0	15397	652	23	1	3263	1	SUPT6H	17	27016406	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	7176665	27016406	54178804	1377	108481											
RAB34	83871	broad.mit.edu	37	chr17	27042506	27042506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagatgccacatcattcagGttgaagacaatgatgatggc	11	7	2	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:27042506G>T	uc002hce.2	-	6	1023	c.399C>A	c.(397-399)AAC>AAA	p.N133K	RAB34_uc002hcg.2_Missense_Mutation_p.N133K|RAB34_uc002hcf.2_Missense_Mutation_p.N134K|RAB34_uc010was.1_Missense_Mutation_p.N190K|RAB34_uc010wat.1_Missense_Mutation_p.N190K|RAB34_uc002hch.2_Missense_Mutation_p.N133K|RAB34_uc010wau.1_Missense_Mutation_p.N111K|RAB34_uc010wav.1_Missense_Mutation_p.N191K	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	133					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CATCATTCAGGTTGAAGACAA	0.498													T	27042506	G	T	27042506	3	4	195	1	0	0	0	0	1	0	0	0	12924	1252	44	5	464	5	RAB34	17	27042506	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	26100	27042506	54152704	1378	108482											
NF1	4763	broad.mit.edu	37	chr17	29654775	29654780	+	In_Frame_Del	DEL	ACCAAG	ACCAAG	-													ccgactctatcccccaacacAccaagattcggccaaaagat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:29654774_29654779CACCAAG>C	uc002hgg.3	+	37	5909_5914	c.5526_5531CACCAAG>C	c.(5524-5532)cacaccaag>caCg	p.TK1843del	NF1_uc002hgh.3_In_Frame_Del_p.TK1822del|NF1_uc002hgi.1_In_Frame_Del_p.TK855del|NF1_uc010cso.3_In_Frame_Del_p.TK31del	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1843					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	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)		TCCCCCAACACACCAAGATTCGGCCA	0.481			"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)			-	29654780	ACCAAG	-	29654775	7	5	195	1	0	1	0	1	0	0	0	0	10356	159	6	0	5738	0	NF1	17	29654775	In_Frame_Del	DEL	ACCAAG	TCGA-CG-5728-01A-11D-1600-08	2612269	29654775	51540435	1379	108483											
C17orf79	55352	broad.mit.edu	37	chr17	30183884	30183884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagctgtagcaaagccagCctgcaggaagaagaaatgat	12	8	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:30183884C>T	uc002hgp.2	-	2	208	c.100G>A	c.(100-102)GCT>ACT	p.A34T	C17orf79_uc010css.2_RNA	NM_018405	NP_060875	Q9NQ92	COPR5_HUMAN	chromosome 17 open reading frame 79	34					histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding				0		all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1)				GCAAAGCCAGCCTGCAGGAAG	0.378													T	30183884	C	T	30183884	3	4	195	1	0	0	0	0	1	0	0	0	1884	753	26	2	466	2	C17orf79	17	30183884	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	529109	30183884	51011326	1380	108484											
MYO1D	4642	broad.mit.edu	37	chr17	31048090	31048090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcaaatcctgcccgacGcactctcacattttccagta	7	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:31048090G>A	uc002hho.1	-	15	1876	c.1864C>T	c.(1864-1866)CGT>TGT	p.R622C	MYO1D_uc002hhp.1_Missense_Mutation_p.R622C	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	622	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTGCCCGACGCACTCTCACA	0.453													A	31048090	G	A	31048090	3	1	195	1	0	0	0	0	1	0	0	0	10071	1087	38	1	1188	1	MYO1D	17	31048090	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	864206	31048090	50147120	1381	108485											
AP2B1	163	broad.mit.edu	37	chr17	33954650	33954650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcctgggtttaacagGttctggcagaactgaaagaa	10	9	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:33954650G>A	uc002hjr.2	+	9	1249	c.1060G>A	c.(1060-1062)GTT>ATT	p.V354I	AP2B1_uc002hjq.2_Missense_Mutation_p.V354I|AP2B1_uc010wci.1_Missense_Mutation_p.V316I|AP2B1_uc002hjs.2_Missense_Mutation_p.V297I|AP2B1_uc002hjt.2_Missense_Mutation_p.V354I|AP2B1_uc010ctv.2_Missense_Mutation_p.V354I|AP2B1_uc010wcj.1_Missense_Mutation_p.V91I	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	354					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			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGTTTAACAGGTTCTGGCAGA	0.448													A	33954650	G	A	33954650	3	1	195	1	0	0	0	0	1	0	0	0	741	1275	44	4	1090	4	AP2B1	17	33954650	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2906560	33954650	47240560	1382	108486											
C17orf66	256957	broad.mit.edu	37	chr17	34182245	34182245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggggttcagctttgcaagtCgaaagtcttgaatagttaac	11	6	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:34182245C>A	uc002hke.1	-	15	1684	c.1535G>T	c.(1534-1536)CGA>CTA	p.R512L	C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.R472L	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	512							binding			breast(2)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTTTGCAAGTCGAAAGTCTTG	0.468													A	34182245	C	A	34182245	3	1	195	1	0	0	0	0	1	0	0	0	1874	884	31	5	181	5	C17orf66	17	34182245	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	227595	34182245	47012965	1383	108487											
ACACA	31	broad.mit.edu	37	chr17	35486328	35486328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagcatccatcgaggatcGtatggggtctttgtgggaac	14	8	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:35486328G>A	uc002hnm.2	-	47	5987	c.5796C>T	c.(5794-5796)TAC>TAT	p.Y1932Y	ACACA_uc002hnk.2_Silent_p.Y1854Y|ACACA_uc002hnl.2_Silent_p.Y1874Y|ACACA_uc002hnn.2_Silent_p.Y1932Y|ACACA_uc002hno.2_Silent_p.Y1969Y|ACACA_uc010cuy.2_Silent_p.Y577Y|ACACA_uc010wdc.1_Silent_p.Y58Y	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1932	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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCGAGGATCGTATGGGGTCT	0.458													A	35486328	G	A	35486328	2	1	195	1	0	0	0	0	0	0	0	1	106	1140	40	1		1	ACACA	17	35486328	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1304083	35486328	45708882	1384	108488											
DDX52	11056	broad.mit.edu	37	chr17	36002157	36002157	+	Frame_Shift_Del	DEL	T	T	-													acctgaagtcatcgtcttccTttttttcttgctctgctccc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:36002156_36002156CT>C	uc002hoi.2	-	1	313	c.269_269AG>G	c.(268-270)aggfs	p.R90fs	DDX52_uc002hoh.2_5'UTR|DDX52_uc002hoj.1_5'UTR	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	90						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)				CATCGTCTTCCTTTTTTTCTT	0.378													-	36002157	T	-	36002157	7	5	195	1	0	1	0	1	0	0	0	0	4370	1608	56	0	1587	0	DDX52	17	36002157	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	515829	36002157	45193053	1385	108489											
MLLT6	4302	broad.mit.edu	37	chr17	36861965	36861965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgctggtctactgcgatgGgcacgcgtgcagcgtggtcg	16	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:36861965G>T	uc002hqi.3	+	1	93	c.80G>T	c.(79-81)GGG>GTG	p.G27V	MLLT6_uc010wdr.1_Missense_Mutation_p.G27V|MLLT6_uc010cvm.1_Missense_Mutation_p.G27V	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	27	PHD-type 1.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					TACTGCGATGGGCACGCGTGC	0.438			T	MLL	AL								T	36861965	G	T	36861965	3	4	195	1	0	0	0	0	1	0	0	0	9630	1232	43	5	82	5	MLLT6	17	36861965	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	859808	36861965	44333245	1386	108490											
PCGF2	7703	broad.mit.edu	37	chr17	36896593	36896593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcgatgaagtaccccccGcagagggcacacatgaggtg	14	12	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:36896593G>A	uc002hqp.1	-	3	306	c.63C>T	c.(61-63)TGC>TGT	p.C21C	PCGF2_uc002hqn.1_Silent_p.C21C|PCGF2_uc002hqo.1_Silent_p.C21C|PCGF2_uc010cvo.1_Intron|PCGF2_uc002hqq.1_Silent_p.C21C	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	21	RING-type.				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)|skin(1)	2	Breast(7;9.07e-22)					AGTACCCCCCGCAGAGGGCAC	0.627													A	36896593	G	A	36896593	2	1	195	1	0	0	0	0	0	0	0	1	11575	1079	38	1		1	PCGF2	17	36896593	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	34628	36896593	44298617	1387	108491											
CDK12	51755	broad.mit.edu	37	chr17	37687472	37687473	+	Frame_Shift_Ins	INS	-	-	G													tcaggagcaggccttcactgINSggggggcccaactcagtctt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:37687471_37687472T>TG	uc010cvv.3	+	13	4961_4962	c.4375_4376T>TG	c.(4375-4377)tggfs	p.W1459fs	CDK12_uc002hrw.4_Frame_Shift_Ins_p.W1450fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1459					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			G	37687473	-	G	37687472	7	5	195	1	0	1	1	0	0	0	0	0	3128	1357	47	0	4430	0	CDK12	17	37687472	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	790879	37687472	43507738	1388	108492											
ZPBP2	124626	broad.mit.edu	37	chr17	38026975	38026975	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgtagagttacatcaaaaTagtccagtccttatctgtat	6	7	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:38026975T>A	uc002hte.2	+	3	300	c.147T>A	c.(145-147)AAT>AAA	p.N49K	ZPBP2_uc002htf.2_Missense_Mutation_p.N27K	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2	49					binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TACATCAAAATAGTCCAGTCC	0.294													A	38026975	T	A	38026975	3	1	195	1	0	0	0	0	1	0	0	0	18217	1403	49	5	157	5	ZPBP2	17	38026975	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	339503	38026975	43168235	1389	108493											
CDC6	990	broad.mit.edu	37	chr17	38449747	38449747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactatcatgctgaattgcAtgtccttgaggactgcccag	9	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:38449747A>C	uc002huj.1	+	5	910	c.700A>C	c.(700-702)ATG>CTG	p.M234L		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	234					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			ovary(2)|breast(1)	3						GCTGAATTGCATGTCCTTGAG	0.418													C	38449747	A	C	38449747	3	2	195	1	0	0	0	0	1	0	0	0	3083	217	8	5	714	5	CDC6	17	38449747	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	422772	38449747	42745463	1390	108494											
SMARCE1	6605	broad.mit.edu	37	chr17	38793825	38793825	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgataccagaggatgcCtacgaaagagttaaatacat	9	7	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:38793825C>A	uc002hux.2	-	5	281	c.157_splice	c.e5-1	p.A53_splice	SMARCE1_uc010wff.1_Splice_Site_p.A18_splice|SMARCE1_uc010wfg.1_Splice_Site|SMARCE1_uc002huy.2_Splice_Site_p.A18_splice|SMARCE1_uc010wfh.1_Splice_Site|SMARCE1_uc010wfi.1_Splice_Site_p.A35_splice|SMARCE1_uc002huz.1_Splice_Site_p.A18_splice|SMARCE1_uc010wfj.1_Splice_Site_p.A35_splice	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated						chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				CAGAGGATGCCTACGAAAGAG	0.433													A	38793825	C	A	38793825	5	1	195	1	0	0	0	0	0	0	1	0	14780	695	24	5	1107	5	SMARCE1	17	38793825	Splice_Site	SNP	C	TCGA-CG-5728-01A-11D-1600-08	344078	38793825	42401385	1391	108495											
KRT25	147183	broad.mit.edu	37	chr17	38907553	38907553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttcacgttgcctccaGctgcgcactgcagaacttgc	9	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:38907553G>A	uc002hve.2	-	4	756	c.695C>T	c.(694-696)GCT>GTT	p.A232V		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	232	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				GTTGCCTCCAGCTGCGCACTG	0.488													A	38907553	G	A	38907553	3	1	195	1	0	0	0	0	1	0	0	0	8462	971	34	2	677	2	KRT25	17	38907553	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	113728	38907553	42287657	1392	108496											
KRT27	342574	broad.mit.edu	37	chr17	38935850	38935850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggtggcgccagcgtcGtcagagatctgctgctgcag	17	10	2	1	rs116084493	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:38935850G>A	uc002hvg.2	-	5	917	c.876C>T	c.(874-876)GAC>GAT	p.D292D		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	292	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				CGCCAGCGTCGTCAGAGATCT	0.607													A	38935850	G	A	38935850	2	1	195	1	0	0	0	0	0	0	0	1	8464	1136	40	1		1	KRT27	17	38935850	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	28297	38935850	42259360	1393	108497											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150246	39150246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaactgtgtgtgggcagGtgctgggcaggcagactcca	15	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:39150246G>A	uc002hvr.1	-	1	140	c.104C>T	c.(103-105)ACC>ATC	p.T35I		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	35	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity				0		Breast(137;0.00043)				GTGTGGGCAGGTGCTGGGCAG	0.632													A	39150246	G	A	39150246	3	1	195	1	0	0	0	0	1	0	0	0	8547	1261	44	4	196	4	KRTAP3-3	17	39150246	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	214396	39150246	42044964	1394	108498											
KRT38	8687	broad.mit.edu	37	chr17	39596889	39596889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattcagggtgttttcaccAtaggccccacagattccaat	7	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:39596889A>G	uc002hwq.1	-	1	708	c.285T>C	c.(283-285)TAT>TAC	p.Y95Y		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	95	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				TGTTTTCACCATAGGCCCCAC	0.597													G	39596889	A	G	39596889	2	3	195	1	0	0	0	0	0	0	0	1	8475	224	8	3		3	KRT38	17	39596889	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	446643	39596889	41598321	1395	108499											
KRT38	8687	broad.mit.edu	37	chr17	39596907	39596907	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataggccccacagattccAatgttgccaggaatgtggca	10	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:39596907A>G	uc002hwq.1	-	1	690	c.267T>C	c.(265-267)ATT>ATC	p.I89I		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	89	Head.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				CACAGATTCCAATGTTGCCAG	0.602													G	39596907	A	G	39596907	2	3	195	1	0	0	0	0	0	0	0	1	8475	126	5	3		3	KRT38	17	39596907	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	18	39596907	41598303	1396	108500											
KRT32	3882	broad.mit.edu	37	chr17	39623520	39623520	+	Frame_Shift_Del	DEL	G	G	-													ggaacagaccgaggcaggccGggggcagctcttgagagagg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:39623519_39623519CG>C	uc002hwr.3	-	0	120	c.59_59CG>G	c.(58-60)cggfs	p.R20fs		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	20	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.P19H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CGAGGCAGGCCGGGGGCAGCT	0.622													-	39623520	G	-	39623520	7	5	195	1	0	1	0	1	0	0	0	0	8468	1115	39	0	1316	0	KRT32	17	39623520	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	26613	39623520	41571690	1397	108501											
KRT15	3866	broad.mit.edu	37	chr17	39674627	39674627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtattggctgtagtcGcattctgggctggttggggt	16	5	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:39674627G>A	uc002hwy.2	-	1	644	c.453C>T	c.(451-453)TGC>TGT	p.C151C	KRT15_uc002hwz.2_Missense_Mutation_p.A14V|KRT15_uc002hxa.2_Missense_Mutation_p.A14V|KRT15_uc002hxb.1_Missense_Mutation_p.A14V	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	151	Rod.|Linker 1.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)				GGCTGTAGTCGCATTCTGGGC	0.562													A	39674627	G	A	39674627	2	1	195	1	0	0	0	0	0	0	0	1	8452	1079	38	1		1	KRT15	17	39674627	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	51107	39674627	41520583	1398	108502											
KLHL11	55175	broad.mit.edu	37	chr17	40011390	40011390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgagatggaaaggtaaCgtataaaattcttcatcctg	8	6	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:40011390C>T	uc002hyf.1	-	2	735	c.729G>A	c.(727-729)ACG>ACA	p.T243T		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	243	BACK.					extracellular region					0		Breast(137;0.00156)				GGAAAGGTAACGTATAAAATT	0.398													T	40011390	C	T	40011390	2	4	195	1	0	0	0	0	0	0	0	1	8367	523	19	1		1	KLHL11	17	40011390	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	336763	40011390	41183820	1399	108503											
DHX58	79132	broad.mit.edu	37	chr17	40253855	40253855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcacggagaagggcacgCgggaccactttttggcctgg	16	11	0	1	rs117253612	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:40253855C>T	uc002hyw.3	-	14	2184	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	DHX58_uc002hyv.3_RNA	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	654	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAAGGGCACGCGGGACCACTT	0.592											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40253855	C	T	40253855	3	4	195	1	0	0	0	0	1	0	0	0	4514	768	27	1	79	1	DHX58	17	40253855	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	242465	40253855	40941355	1400	108504											
STAT5B	6777	broad.mit.edu	37	chr17	40371806	40371806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttctgctggagggccGtctcccggctcagacgctcc	12	17	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:40371806G>A	uc002hzh.2	-	6	774	c.605C>T	c.(604-606)ACG>ATG	p.T202M	STAT5B_uc002hzi.3_Missense_Mutation_p.T202M	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	202					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			ovary(3)|lung(2)|skin(1)	6		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)	CTGGAGGGCCGTCTCCCGGCT	0.652													A	40371806	G	A	40371806	3	1	195	1	0	0	0	0	1	0	0	0	15268	1145	40	1	1814	1	STAT5B	17	40371806	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	117951	40371806	40823404	1401	108505											
STAT5B	6777	broad.mit.edu	37	chr17	40375459	40375459	+	Frame_Shift_Del	DEL	T	T	-													actcctgagtctgctgcagcTtttttaactcattctctgtg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:40375458_40375458CT>C	uc002hzh.3	-	4	661	c.492_492AG>G	c.(490-492)aagfs	p.K164fs	STAT5B_uc002hzi.3_Frame_Shift_Del_p.K164fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	164					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|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)	TCTGCTGCAGCTTTTTTAACT	0.532													-	40375459	T	-	40375459	7	5	195	1	0	1	0	1	0	0	0	0	15268	1609	56	0	1932	0	STAT5B	17	40375459	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	3653	40375459	40819751	1402	108506											
STAT5A	6776	broad.mit.edu	37	chr17	40459717	40459717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagaaatcgggggcatcAccatcgcctggaagtttgac	11	11	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:40459717A>G	uc002hzj.1	+	16	2524	c.1882A>G	c.(1882-1884)ACC>GCC	p.T628A	STAT5A_uc010cya.1_Missense_Mutation_p.T628A|STAT5A_uc010cyb.1_Missense_Mutation_p.T597A|STAT5A_uc010cyc.1_Missense_Mutation_p.T598A|STAT5A_uc010cyd.1_Missense_Mutation_p.T116A|STAT5A_uc010cye.1_Missense_Mutation_p.T116A	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	628	SH2.				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			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGGGGGCATCACCATCGCCTG	0.587													G	40459717	A	G	40459717	3	3	195	1	0	0	0	0	1	0	0	0	15267	159	6	3	1936	3	STAT5A	17	40459717	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	84258	40459717	40735493	1403	108507											
BRCA1	672	broad.mit.edu	37	chr17	41246445	41246445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttatccaaggaacatctTcagtatctctaggattctct	7	9	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:41246445T>C	uc002icq.2	-	10	1335	c.1103A>G	c.(1102-1104)GAA>GGA	p.E368G	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E297G|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E321G|BRCA1_uc002ict.2_Missense_Mutation_p.E368G|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E368G|BRCA1_uc002ide.1_Missense_Mutation_p.E199G|BRCA1_uc010cyy.1_Missense_Mutation_p.E368G|BRCA1_uc010whs.1_Missense_Mutation_p.E368G|BRCA1_uc010cyz.2_Missense_Mutation_p.E321G|BRCA1_uc010cza.2_Missense_Mutation_p.E342G|BRCA1_uc010wht.1_Missense_Mutation_p.E72G	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	368					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGAACATCTTCAGTATCTCT	0.403			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			C	41246445	T	C	41246445	3	2	195	1	0	0	0	0	1	0	0	0	1498	1783	62	3	4614	3	BRCA1	17	41246445	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	786728	41246445	39948765	1404	108508											
MPP3	4356	broad.mit.edu	37	chr17	41908667	41908667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttggactttgcctttcaTaatagcgaagcttctcatga	10	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:41908667T>C	uc002iei.3	-	5	333	c.167A>G	c.(166-168)TAT>TGT	p.Y56C	MPP3_uc002ieh.2_Missense_Mutation_p.Y81C|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.Y56C|MPP3_uc010wik.1_Missense_Mutation_p.Y81C|MPP3_uc010czj.1_Missense_Mutation_p.Y56C	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	56	L27 1.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TTGCCTTTCATAATAGCGAAG	0.557													C	41908667	T	C	41908667	3	2	195	1	0	0	0	0	1	0	0	0	9735	1406	49	3	1654	3	MPP3	17	41908667	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	662222	41908667	39286543	1405	108509											
UBTF	7343	broad.mit.edu	37	chr17	42290653	42290653	+	Splice_Site	DEL	G	G	-													gtcctgaatatatttcatctGgggggaggaggggatggggt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:42290652_42290652TG>T	uc010czs.3	-	6	771	c.475_splice	c.e6-1	p.M159_splice	UBTF_uc002igc.3_Splice_Site_p.M159_splice|UBTF_uc002igd.3_Splice_Site_p.M159_splice|UBTF_uc010czt.3_Splice_Site_p.M159_splice|UBTF_uc002ige.2_Splice_Site_p.M159_splice	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	159					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)		ATATTTCATCTGGGGGGAGGA	0.597													-	42290653	G	-	42290653	8	5	195	1	0	1	0	1	0	0	1	0	16906	1363	47	0		0	UBTF	17	42290653	Splice_Site	DEL	G	TCGA-CG-5728-01A-11D-1600-08	381986	42290653	38904557	1406	108510											
SLC25A39	51629	broad.mit.edu	37	chr17	42397752	42397752	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccatcgctcccagagcgAcctggcgttgggtctttacc	10	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:42397752A>G	uc002ign.2	-	10	1008	c.854T>C	c.(853-855)GTC>GCC	p.V285A	SLC25A39_uc002igm.2_Missense_Mutation_p.V277A|SLC25A39_uc002igo.2_Missense_Mutation_p.V277A|SLC25A39_uc010wiw.1_Missense_Mutation_p.V262A|SLC25A39_uc010czu.2_Missense_Mutation_p.V153A	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	285	Solcar 3.				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCCAGAGCGACCTGGCGTTG	0.662													G	42397752	A	G	42397752	3	3	195	1	0	0	0	0	1	0	0	0	14503	275	10	3	237	3	SLC25A39	17	42397752	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	107099	42397752	38797458	1407	108511											
GPATCH8	23131	broad.mit.edu	37	chr17	42475537	42475537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggctttccagggggGccagtgaagcatcctcagcc	15	12	1	1	rs34826608		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:42475537G>A	uc002igw.1	-	8	3972	c.3908C>T	c.(3907-3909)GCC>GTC	p.A1303V	GPATCH8_uc002igv.1_Missense_Mutation_p.A1225V|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1225V	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1303						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCAGGGGGGCCAGTGAAGC	0.562													A	42475537	G	A	42475537	3	1	195	1	0	0	0	0	1	0	0	0	6594	1203	42	2	604	2	GPATCH8	17	42475537	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	77785	42475537	38719673	1408	108512											
GPATCH8	23131	broad.mit.edu	37	chr17	42476193	42476193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagtgacagagttcttGtcttcaggactgcagtcacc	11	10	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:42476193G>A	uc002igw.1	-	8	3316	c.3252C>T	c.(3250-3252)GAC>GAT	p.D1084D	GPATCH8_uc002igv.1_Silent_p.D1006D|GPATCH8_uc010wiz.1_Silent_p.D1006D	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1084						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAGAGTTCTTGTCTTCAGGAC	0.507													A	42476193	G	A	42476193	2	1	195	1	0	0	0	0	0	0	0	1	6594	1368	48	4		4	GPATCH8	17	42476193	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	656	42476193	38719017	1409	108513											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531400	43531400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcgtcctgggaggaggcGcgcagggccagcttcttgcc	16	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:43531400G>A	uc002ija.2	-	7	1988	c.1818C>T	c.(1816-1818)CGC>CGT	p.R606R	PLEKHM1_uc010wjm.1_Silent_p.R578R|PLEKHM1_uc002ijb.2_Silent_p.R81R|PLEKHM1_uc010wjn.1_Silent_p.R555R|PLEKHM1_uc002ijc.2_Silent_p.R60R	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	606	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GGGAGGAGGCGCGCAGGGCCA	0.642													A	43531400	G	A	43531400	2	1	195	1	0	0	0	0	0	0	0	1	12080	1074	38	1		1	PLEKHM1	17	43531400	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1055207	43531400	37663810	1410	108514											
PLEKHM1	9842	broad.mit.edu	37	chr17	43553069	43553069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttgacaaacgtcaggTgctccaactctgagatgatg	11	10	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:43553069T>C	uc002ija.2	-	4	490	c.320A>G	c.(319-321)CAC>CGC	p.H107R	PLEKHM1_uc010wjm.1_Missense_Mutation_p.H79R|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.H56R|hsa-mir-4315-1|MI0015844_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	107	RUN.				intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					AAACGTCAGGTGCTCCAACTC	0.552													C	43553069	T	C	43553069	3	2	195	1	0	0	0	0	1	0	0	0	12080	1696	59	3	2886	3	PLEKHM1	17	43553069	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	21669	43553069	37642141	1411	108515											
CRHR1	1394	broad.mit.edu	37	chr17	43906680	43906680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctttgtcctctttctgCggctcaggtgagaagacccc	11	13	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:43906680C>T	uc010dap.2	+	5	692	c.427C>T	c.(427-429)CGG>TGG	p.R143W	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.R42W|CRHR1_uc002ijm.2_Missense_Mutation_p.R143W|CRHR1_uc002ijn.2_Missense_Mutation_p.R103W|CRHR1_uc010dar.2_Missense_Mutation_p.R143W|CRHR1_uc010dao.2_Missense_Mutation_p.R42W|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	143	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTCTTTCTGCGGCTCAGGTG	0.577													T	43906680	C	T	43906680	3	4	195	1	0	0	0	0	1	0	0	0	3871	759	27	1	445	1	CRHR1	17	43906680	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	353611	43906680	37288530	1412	108516											
ITGB3	3690	broad.mit.edu	37	chr17	45377889	45377889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggggagccctacatgaCgaaaatacctgcaaccgtta	10	12	0	1	rs112717328	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:45377889C>T	uc002ilj.2	+	12	1979	c.1959C>T	c.(1957-1959)GAC>GAT	p.D653D	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	653	Extracellular (Potential).			GALHD -> EPYMT (in Ref. 1; AAA52589, 2; AAA60122 and 4; AAB71380).	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			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CCCTACATGACGAAAATACCT	0.463													T	45377889	C	T	45377889	2	4	195	1	0	0	0	0	0	0	0	1	7895	535	19	1		1	ITGB3	17	45377889	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1471209	45377889	35817321	1413	108517											
NGFR	4804	broad.mit.edu	37	chr17	47587858	47587858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccaggagcctgaggcacCtccagaacaagacctcatag	9	15	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:47587858C>A	uc002ioz.3	+	4	778	c.653C>A	c.(652-654)CCT>CAT	p.P218H		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	218	Ser/Thr-rich.|Extracellular (Potential).				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				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCTGAGGCACCTCCAGAACAA	0.642													A	47587858	C	A	47587858	3	1	195	1	0	0	0	0	1	0	0	0	10396	681	24	5	667	5	NGFR	17	47587858	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2209969	47587858	33607352	1414	108518											
XYLT2	64132	broad.mit.edu	37	chr17	48433494	48433494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcctgtgagaccctcGtggacaacaacctgcgggtc	13	14	0	1	rs139052712		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:48433494G>A	uc002iqo.2	+	7	1463	c.1354G>A	c.(1354-1356)GTG>ATG	p.V452M	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	452	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					TGAGACCCTCGTGGACAACAA	0.602													A	48433494	G	A	48433494	3	1	195	1	0	0	0	0	1	0	0	0	17461	1145	40	1	1380	1	XYLT2	17	48433494	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	845636	48433494	32761716	1415	108519											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	195	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	473	48433967	32761243	1416	108520											
XYLT2	64132	broad.mit.edu	37	chr17	48435836	48435836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccttcagttctgggaacCgctgggtgagacccgcttcc	11	14	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:48435836C>T	uc002iqo.2	+	10	2319	c.2210C>T	c.(2209-2211)CCG>CTG	p.P737L	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	737	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					TTCTGGGAACCGCTGGGTGAG	0.587													T	48435836	C	T	48435836	3	4	195	1	0	0	0	0	1	0	0	0	17461	652	23	1	2248	1	XYLT2	17	48435836	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1869	48435836	32759374	1417	108521											
RSAD1	55316	broad.mit.edu	37	chr17	48561095	48561095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttttggccctggggctaCgcaccgatgtggggatcact	14	10	1	0	rs148371199		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:48561095C>T	uc002iqw.1	+	7	1137	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	RSAD1_uc010wmq.1_Intron	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	361					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCTGGGGCTACGCACCGATGT	0.537													T	48561095	C	T	48561095	3	4	195	1	0	0	0	0	1	0	0	0	13694	536	19	1	1107	1	RSAD1	17	48561095	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	125259	48561095	32634115	1418	108522											
SPAG9	9043	broad.mit.edu	37	chr17	49098699	49098699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtggtagctttagatcCgccttggctaacatcagaaa	11	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:49098699C>T	uc002itc.2	-	7	1020	c.811G>A	c.(811-813)GGA>AGA	p.G271R	SPAG9_uc002itb.2_Missense_Mutation_p.G257R|SPAG9_uc002itd.2_Missense_Mutation_p.G257R|SPAG9_uc002itf.2_Missense_Mutation_p.G92R|SPAG9_uc002ita.2_Missense_Mutation_p.G114R|SPAG9_uc002ite.2_Missense_Mutation_p.G101R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	271					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTTAGATCCGCCTTGGCTA	0.348													T	49098699	C	T	49098699	3	4	195	1	0	0	0	0	1	0	0	0	14985	661	23	1	3250	1	SPAG9	17	49098699	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	537604	49098699	32096511	1419	108523											
NME1-NME2	654364	broad.mit.edu	37	chr17	49247316	49247316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctgggaggggctgaacGtggtgaagacaggccgagtg	20	6	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:49247316G>A	uc002itk.2	+	8	920	c.667G>A	c.(667-669)GTG>ATG	p.V223M	NME1-NME2_uc002itj.2_Missense_Mutation_p.V198M|NME2_uc002itl.2_Missense_Mutation_p.V83M|NME2_uc002itm.2_Missense_Mutation_p.V83M|NME2_uc002itn.2_Missense_Mutation_p.V83M|NME2_uc002ito.2_Missense_Mutation_p.V83M	NM_002512	NP_002503	P22392	NDKB_HUMAN	nucleoside diphosphate kinase B	83					cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity				0			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GGGGCTGAACGTGGTGAAGAC	0.512													A	49247316	G	A	49247316	3	1	195	1	0	0	0	0	1	0	0	0	10490	1145	40	1	614	1	NME1-NME2	17	49247316	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	148617	49247316	31947894	1420	108524											
KIF2B	84643	broad.mit.edu	37	chr17	51900915	51900915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagatccgagctagacGcgccctcgatgtcaatacca	11	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:51900915G>A	uc002iua.2	+	1	677	c.521G>A	c.(520-522)CGC>CAC	p.R174H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	174	Potential.				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			ovary(5)|skin(3)	8						CGAGCTAGACGCGCCCTCGAT	0.547													A	51900915	G	A	51900915	3	1	195	1	0	0	0	0	1	0	0	0	8298	1087	38	1	523	1	KIF2B	17	51900915	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2653599	51900915	29294295	1421	108525											
MPO	4353	broad.mit.edu	37	chr17	56348170	56348170	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccggggcaatgagatctgGgccagggcctgtcgctgctg	16	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:56348170G>T	uc002ivu.1	-	12	2262	c.2085C>A	c.(2083-2085)GCC>GCA	p.A695A		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	695					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			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	ATGAGATCTGGGCCAGGGCCT	0.547													T	56348170	G	T	56348170	2	4	195	1	0	0	0	0	0	0	0	1	9732	1219	43	5		5	MPO	17	56348170	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	4447255	56348170	24847040	1422	108526											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	195	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	86991	56435161	24760049	1423	108527											
MTMR4	9110	broad.mit.edu	37	chr17	56584616	56584616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactcatcatcagcattgcGccagccccaccagctgatct	7	16	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:56584616G>A	uc002iwj.2	-	9	840	c.730C>T	c.(730-732)CGC>TGC	p.R244C		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	244	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGCATTGCGCCAGCCCCAC	0.597													A	56584616	G	A	56584616	3	1	195	1	0	0	0	0	1	0	0	0	9946	1087	38	1	2901	1	MTMR4	17	56584616	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	149455	56584616	24610594	1424	108528											
C17orf47	284083	broad.mit.edu	37	chr17	56620624	56620624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatactaagacctttgcGgagggcttggtttcaggata	13	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:56620624G>A	uc002iwq.1	-	1	1060	c.924C>T	c.(922-924)TCC>TCT	p.S308S	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	308										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGACCTTTGCGGAGGGCTTGG	0.527													A	56620624	G	A	56620624	2	1	195	1	0	0	0	0	0	0	0	1	1858	1103	39	1		1	C17orf47	17	56620624	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	36008	56620624	24574586	1425	108529											
CLTC	1213	broad.mit.edu	37	chr17	57760780	57760780	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaacaagctcatctttgGgcagaactggtgtttttgta	11	7	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:57760780G>A	uc002ixq.1	+	26	4517	c.4074G>A	c.(4072-4074)TGG>TGA	p.W1358*	CLTC_uc002ixp.2_Nonsense_Mutation_p.W1358*|CLTC_uc002ixr.1_Nonsense_Mutation_p.W1362*	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1358	Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).				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)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTCATCTTTGGGCAGAACTGG	0.363			T	ALK|TFE3	ALCL|renal 								A	57760780	G	A	57760780	4	1	195	1	0	0	0	0	0	1	0	0	3566	1241	43	4	4176	4	CLTC	17	57760780	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1140156	57760780	23434430	1426	108530											
USP32	84669	broad.mit.edu	37	chr17	58343335	58343335	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatacacaatcataacttAcaggaatatcatcagtgcgg	7	9	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:58343335A>G	uc002iyo.1	-	8	1213	c.927_splice	c.e8+1	p.P309_splice	USP32_uc010wov.1_Splice_Site_p.P309_splice	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32						protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCATAACTTACAGGAATATC	0.383													G	58343335	A	G	58343335	5	3	195	1	0	0	0	0	0	0	1	0	17060	405	14	3	3993	3	USP32	17	58343335	Splice_Site	SNP	A	TCGA-CG-5728-01A-11D-1600-08	582555	58343335	22851875	1427	108531											
TBX4	9496	broad.mit.edu	37	chr17	59560552	59560552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacgatggagactgtgcCgtaccagcccttccccacgc	11	16	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:59560552C>T	uc002izi.2	+	8	1358	c.1313C>T	c.(1312-1314)CCG>CTG	p.P438L	TBX4_uc010ddo.2_Missense_Mutation_p.P439L|TBX4_uc010woy.1_Missense_Mutation_p.P439L	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	438					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						GAGACTGTGCCGTACCAGCCC	0.627													T	59560552	C	T	59560552	3	4	195	1	0	0	0	0	1	0	0	0	15657	652	23	1	1343	1	TBX4	17	59560552	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1217217	59560552	21634658	1428	108532											
MED13	9969	broad.mit.edu	37	chr17	60059688	60059688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcattgcaacagtcacGctcttcaacacgtacccaat	6	14	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:60059688G>A	uc002izo.2	-	16	3753	c.3676C>T	c.(3676-3678)CGT>TGT	p.R1226C		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1226					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			large_intestine(1)|ovary(1)	2						CAACAGTCACGCTCTTCAACA	0.418													A	60059688	G	A	60059688	3	1	195	1	0	0	0	0	1	0	0	0	9430	1087	38	1	2908	1	MED13	17	60059688	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	499136	60059688	21135522	1429	108533											
TANC2	26115	broad.mit.edu	37	chr17	61466684	61466684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaggtcagccgactgctgAttttgggaggtgccaatatt	12	8	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:61466684A>G	uc002jal.3	+	15	2631	c.2608A>G	c.(2608-2610)ATT>GTT	p.I870V	TANC2_uc010wpe.1_Missense_Mutation_p.I780V|TANC2_uc002jan.1_Missense_Mutation_p.I21V|TANC2_uc002jao.3_5'UTR|TANC2_uc002jam.1_Missense_Mutation_p.I237V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	870	ANK 1.						binding			ovary(2)	2						CCGACTGCTGATTTTGGGAGG	0.368													G	61466684	A	G	61466684	3	3	195	1	0	0	0	0	1	0	0	0	15542	333	12	3	2666	3	TANC2	17	61466684	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1406996	61466684	19728526	1430	108534											
KCNH6	81033	broad.mit.edu	37	chr17	61611294	61611294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagtacaagctgcaggcGccgcgcatccaccgctggac	13	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:61611294G>A	uc002jay.2	+	5	803	c.723G>A	c.(721-723)GCG>GCA	p.A241A	KCNH6_uc002jax.1_Silent_p.A241A|KCNH6_uc010wpl.1_Silent_p.A118A|KCNH6_uc010wpm.1_Silent_p.A241A|KCNH6_uc002jaz.1_Silent_p.A241A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	241	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AGCTGCAGGCGCCGCGCATCC	0.672													A	61611294	G	A	61611294	2	1	195	1	0	0	0	0	0	0	0	1	8036	1074	38	1		1	KCNH6	17	61611294	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	144610	61611294	19583916	1431	108535											
MAP3K3	4215	broad.mit.edu	37	chr17	61710073	61710073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgaactcaatcatgaacGatctggtggccctccagatg	9	11	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:61710073G>A	uc002jbg.2	+	2	356	c.37G>A	c.(37-39)GAT>AAT	p.D13N	MAP3K3_uc002jbe.2_Missense_Mutation_p.D13N|MAP3K3_uc002jbf.2_Missense_Mutation_p.D13N|MAP3K3_uc002jbh.2_Missense_Mutation_p.D13N|MAP3K3_uc010wpo.1_5'UTR|MAP3K3_uc010wpp.1_Missense_Mutation_p.D13N	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	13					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			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						AATCATGAACGATCTGGTGGC	0.473													A	61710073	G	A	61710073	3	1	195	1	0	0	0	0	1	0	0	0	9251	1058	37	1	43	1	MAP3K3	17	61710073	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	98779	61710073	19485137	1432	108536											
PSMC5	5705	broad.mit.edu	37	chr17	61908237	61908237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctgtggctcatcatacGgactgtacctttattcgtgt	11	10	2	0	rs138950745	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:61908237G>A	uc002jcb.2	+	7	662	c.621G>A	c.(619-621)ACG>ACA	p.T207T	PSMC5_uc010ddy.2_Silent_p.T184T|PSMC5_uc010ddz.2_Silent_p.T128T|PSMC5_uc002jcc.2_Silent_p.T199T|PSMC5_uc002jcd.2_Silent_p.T199T	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	207					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						CTCATCATACGGACTGTACCT	0.532													A	61908237	G	A	61908237	2	1	195	1	0	0	0	0	0	0	0	1	12690	1103	39	1		1	PSMC5	17	61908237	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	198164	61908237	19286973	1433	108537											
CSHL1	1444	broad.mit.edu	37	chr17	61987659	61987659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcgactcgatgagcaGcagggagatgtggagcagct	16	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:61987659G>A	uc002jda.1	-	4	396	c.334C>T	c.(334-336)CTG>TTG	p.L112L	CSHL1_uc002jcz.1_Silent_p.L89L|CSHL1_uc002jdb.1_Silent_p.L18L|CSHL1_uc002jdc.1_Silent_p.L29L|CSHL1_uc002jdd.1_Silent_p.L50L|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_Silent_p.L29L|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_Silent_p.L18L	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	112						extracellular region	hormone activity|metal ion binding				0						TCGATGAGCAGCAGGGAGATG	0.622													A	61987659	G	A	61987659	2	1	195	1	0	0	0	0	0	0	0	1	3942	962	34	2		2	CSHL1	17	61987659	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	79422	61987659	19207551	1434	108538											
APOH	350	broad.mit.edu	37	chr17	64216830	64216830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacgaagtgttgcaaacGtaggtatggatggtggaggg	16	4	0	0	rs113544357		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:64216830G>A	uc002jfn.3	-	5	505	c.446C>T	c.(445-447)ACG>ATG	p.T149M		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	149	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGTTGCAAACGTAGGTATGGA	0.393													A	64216830	G	A	64216830	3	1	195	1	0	0	0	0	1	0	0	0	804	1145	40	1	607	1	APOH	17	64216830	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2229171	64216830	16978380	1435	108539											
PITPNC1	26207	broad.mit.edu	37	chr17	65628318	65628318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttattgatattgcctgCgatgaaattccagagcgcta	9	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:65628318C>T	uc002jgc.2	+	6	773	c.426C>T	c.(424-426)TGC>TGT	p.C142C	PITPNC1_uc002jgb.2_Silent_p.C142C	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	142					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			ATATTGCCTGCGATGAAATTC	0.363													T	65628318	C	T	65628318	2	4	195	1	0	0	0	0	0	0	0	1	11949	776	27	1		1	PITPNC1	17	65628318	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1411488	65628318	15566892	1436	108540											
KPNA2	3838	broad.mit.edu	37	chr17	66039402	66039402	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgatggtccaaatgaaCgaattggcatggtggtgaaa	12	5	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:66039402C>T	uc002jgk.2	+	7	985	c.853C>T	c.(853-855)CGA>TGA	p.R285*	KPNA2_uc002jgl.2_Nonsense_Mutation_p.R285*	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	285	ARM 6.				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			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCCAAATGAACGAATTGGCAT	0.428													T	66039402	C	T	66039402	4	4	195	1	0	0	0	0	0	1	0	0	8430	528	19	1	875	1	KPNA2	17	66039402	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	411084	66039402	15155808	1437	108541											
ABCA8	10351	broad.mit.edu	37	chr17	66924149	66924149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctacaatgagatttgagCcgtccgatggatgaggaaat	12	6	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:66924149C>T	uc002jhp.2	-	9	1360	c.1181G>A	c.(1180-1182)GGC>GAC	p.G394D	ABCA8_uc002jhq.2_Missense_Mutation_p.G394D|ABCA8_uc010wqq.1_Missense_Mutation_p.G394D|ABCA8_uc010wqr.1_Missense_Mutation_p.G333D|ABCA8_uc002jhr.2_Missense_Mutation_p.G394D	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	394						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GAGATTTGAGCCGTCCGATGG	0.333													T	66924149	C	T	66924149	3	4	195	1	0	0	0	0	1	0	0	0	38	739	26	2	3684	2	ABCA8	17	66924149	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	884747	66924149	14271061	1438	108542											
KIAA0195	9772	broad.mit.edu	37	chr17	73491708	73491708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctagtgccccttttcacCgactgcaccccagagagtga	9	15	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:73491708C>T	uc002jnz.3	+	22	3203	c.2928C>T	c.(2926-2928)ACC>ACT	p.T976T	KIAA0195_uc010wsa.1_Silent_p.T986T|KIAA0195_uc010wsb.1_Silent_p.T616T|KIAA0195_uc002job.3_5'UTR	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	976					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			CCCTTTTCACCGACTGCACCC	0.637													T	73491708	C	T	73491708	2	4	195	1	0	0	0	0	0	0	0	1	8160	639	23	1		1	KIAA0195	17	73491708	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6567559	73491708	7703502	1439	108543											
TRIM65	201292	broad.mit.edu	37	chr17	73888555	73888555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaacttgccggagacCcaggaggccaagatgcaggc	14	12	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:73888555C>A	uc002jpx.2	-	3	573	c.537G>T	c.(535-537)TGG>TGT	p.W179C		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	179	Potential.					intracellular	zinc ion binding				0			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)			TGCCGGAGACCCAGGAGGCCA	0.652													A	73888555	C	A	73888555	3	1	195	1	0	0	0	0	1	0	0	0	16536	624	22	5	1032	5	TRIM65	17	73888555	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	396847	73888555	7306655	1440	108544											
FBF1	85302	broad.mit.edu	37	chr17	73919411	73919411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccttggaggctcgcAgcttggaagcctggctggct	13	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:73919411A>G	uc002jqc.2	-	13	1509	c.1235T>C	c.(1234-1236)CTG>CCG	p.L412P	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.L403P|FBF1_uc002jqd.1_Missense_Mutation_p.L413P|FBF1_uc010dgr.1_5'Flank	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	412											0						GGAGGCTCGCAGCTTGGAAGC	0.647													G	73919411	A	G	73919411	3	3	195	1	0	0	0	0	1	0	0	0	5695	188	7	3	2234	3	FBF1	17	73919411	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	30856	73919411	7275799	1441	108545											
ACOX1	51	broad.mit.edu	37	chr17	73947496	73947496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagaccaaactcatacCtcaggcagttcactcaggtc	8	12	4	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:73947496C>A	uc002jqf.2	-	8	1397	c.1107G>T	c.(1105-1107)GAG>GAT	p.E369D	ACOX1_uc010wsq.1_Missense_Mutation_p.E331D|ACOX1_uc002jqe.2_Missense_Mutation_p.E369D|ACOX1_uc010wsr.1_Missense_Mutation_p.E301D	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	369					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			ovary(1)	1						AAACTCATACCTCAGGCAGTT	0.488													A	73947496	C	A	73947496	3	1	195	1	0	0	0	0	1	0	0	0	158	695	24	5	903	5	ACOX1	17	73947496	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	28085	73947496	7247714	1442	108546											
CCDC40	55036	broad.mit.edu	37	chr17	78023884	78023884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggctaccaagcagagcCgagcccagcggcaggagctg	15	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:78023884C>A	uc010dht.2	+	7	988	c.961C>A	c.(961-963)CGA>AGA	p.R321R	CCDC40_uc010wub.1_Silent_p.R321R|CCDC40_uc002jxm.3_Silent_p.R104R	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	321					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAAGCAGAGCCGAGCCCAGCG	0.602													A	78023884	C	A	78023884	2	1	195	1	0	0	0	0	0	0	0	1	2812	644	23	5		5	CCDC40	17	78023884	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4076388	78023884	3171326	1443	108547											
C17orf70	80233	broad.mit.edu	37	chr17	79508401	79508401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgctggagccctgggtGgcctgctctgtcaccatcgt	15	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:79508401G>A	uc002kaq.2	-	8	2503	c.2448C>T	c.(2446-2448)GCC>GCT	p.A816A	C17orf70_uc002kao.1_Silent_p.A465A|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.A665A	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	816					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGCCCTGGGTGGCCTGCTCTG	0.672													A	79508401	G	A	79508401	2	1	195	1	0	0	0	0	0	0	0	1	1877	1335	47	4		4	C17orf70	17	79508401	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1484517	79508401	1686809	1444	108548											
C17orf70	80233	broad.mit.edu	37	chr17	79517607	79517607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtcacagtgcacatcctCgtcaggcagaaaattctctg	9	12	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:79517607C>T	uc002kaq.2	-	3	968	c.913G>A	c.(913-915)GAG>AAG	p.E305K	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.E154K	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	305					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGCACATCCTCGTCAGGCAGA	0.592													T	79517607	C	T	79517607	3	4	195	1	0	0	0	0	1	0	0	0	1877	893	31	1	1760	1	C17orf70	17	79517607	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	9206	79517607	1677603	1445	108549											
RAC3	5881	broad.mit.edu	37	chr17	79991663	79991663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgcgcggtgctctgcccGcccccagtgaagaagccggg	14	16	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:79991663G>A	uc002kdf.2	+	6	643	c.537G>A	c.(535-537)CCG>CCA	p.P179P		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	179					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				0	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)			TGCTCTGCCCGCCCCCAGTGA	0.667													A	79991663	G	A	79991663	2	1	195	1	0	0	0	0	0	0	0	1	12976	1074	38	1		1	RAC3	17	79991663	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	474056	79991663	1203547	1446	108550											
DUS1L	64118	broad.mit.edu	37	chr17	80017938	80017938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcccgcttgctgcgcgCacctgccttctccttgctcc	10	19	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr17:80017938C>T	uc002kdq.2	-	10	1473	c.1054G>A	c.(1054-1056)GCG>ACG	p.A352T	DUS1L_uc002kdp.2_Missense_Mutation_p.A221T|DUS1L_uc002kdr.2_Missense_Mutation_p.A352T|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	352					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	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)			TTGCTGCGCGCACCTGCCTTC	0.657													T	80017938	C	T	80017938	3	4	195	1	0	0	0	0	1	0	0	0	4805	710	25	2	383	2	DUS1L	17	80017938	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	26275	80017938	1177272	1447	108551											
THOC1	9984	broad.mit.edu	37	chr18	224097	224097	+	Frame_Shift_Del	DEL	T	T	-													cacctactttcccatcagaaTttttttggtgggtcctttcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:224096_224096AT>A	uc002kkj.4	-	15	1332	c.1292_1292AT>T	c.(1291-1293)attfs	p.I431fs	THOC1_uc002kkh.4_Frame_Shift_Del_p.I55fs	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	431					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCCCATCAGAATTTTTTTGGT	0.373													-	224097	T	-	224097	7	5	195	1	0	1	0	1	0	0	0	0	15861	1493	52	0	706	0	THOC1	18	224097	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08		224097	77853151	1448	108552											
EPB41L3	23136	broad.mit.edu	37	chr18	5443867	5443867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttttatttccttagcagGgtccaaccaattctgaaaag	6	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:5443867G>T	uc002kmt.1	-	5	585	c.499C>A	c.(499-501)CCT>ACT	p.P167T	EPB41L3_uc010wzh.1_Missense_Mutation_p.P167T|EPB41L3_uc002kmu.1_Missense_Mutation_p.P167T|EPB41L3_uc010dkq.1_Missense_Mutation_p.P58T|EPB41L3_uc010dks.1_Missense_Mutation_p.P189T|EPB41L3_uc002kmv.1_Missense_Mutation_p.P58T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	167	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TCCTTAGCAGGGTCCAACCAA	0.343													T	5443867	G	T	5443867	3	4	195	1	0	0	0	0	1	0	0	0	5154	1232	43	5	2836	5	EPB41L3	18	5443867	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5219770	5443867	72633381	1449	108553											
TMEM200C	645369	broad.mit.edu	37	chr18	5891983	5891983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttggctttccgcttgCgcttgggtatctggcttggg	13	10	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:5891983C>T	uc002kmx.1	-	1	121	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	27						integral to membrane					0						TTTCCGCTTGCGCTTGGGTAT	0.612													T	5891983	C	T	5891983	3	4	195	1	0	0	0	0	1	0	0	0	16122	768	27	1	1789	1	TMEM200C	18	5891983	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	448116	5891983	72185265	1450	108554											
PTPRM	5797	broad.mit.edu	37	chr18	8370934	8370934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacacagagatatataaagAcattaaagttaccctaatag	6	6	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:8370934A>G	uc002knn.3	+	22	3565	c.3062A>G	c.(3061-3063)GAC>GGC	p.D1021G	PTPRM_uc010dkv.2_Missense_Mutation_p.D1034G|PTPRM_uc010wzl.1_Missense_Mutation_p.D808G	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1021	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				ATATATAAAGACATTAAAGTT	0.318													G	8370934	A	G	8370934	3	3	195	1	0	0	0	0	1	0	0	0	12806	275	10	3	3195	3	PTPRM	18	8370934	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2478951	8370934	69706314	1451	108555											
TXNDC2	84203	broad.mit.edu	37	chr18	9887504	9887504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccagcctaaggagggtgAcatccccaagtccccagaag	10	14	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:9887504A>G	uc002koi.3	+	2	1477	c.1028A>G	c.(1027-1029)GAC>GGC	p.D343G	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.D276G	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	343	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|16.				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			ovary(1)|pancreas(1)	2						AAGGAGGGTGACATCCCCAAG	0.577													G	9887504	A	G	9887504	3	3	195	1	0	0	0	0	1	0	0	0	16794	275	10	3	1034	3	TXNDC2	18	9887504	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1516570	9887504	68189744	1452	108556											
TXNDC2	84203	broad.mit.edu	37	chr18	9887579	9887579	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccccagaagaagccatccAgcccaaggagggtgacattc	11	13	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:9887579A>T	uc002koi.3	+	2	1552	c.1103A>T	c.(1102-1104)CAG>CTG	p.Q368L	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.Q301L	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	368	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|18.				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			ovary(1)|pancreas(1)	2						GAAGCCATCCAGCCCAAGGAG	0.567													T	9887579	A	T	9887579	3	4	195	1	0	0	0	0	1	0	0	0	16794	188	7	5	1109	5	TXNDC2	18	9887579	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	75	9887579	68189669	1453	108557											
TUBB6	84617	broad.mit.edu	37	chr18	12308711	12308711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgatcagcgatgagcAcggcatcgacccggccggag	16	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:12308711A>G	uc002kqw.2	+	2	128	c.83A>G	c.(82-84)CAC>CGC	p.H28R	TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.H28R|TUBB6_uc002kqy.2_Missense_Mutation_p.H28R	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	28					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		AGCGATGAGCACGGCATCGAC	0.647													G	12308711	A	G	12308711	3	3	195	1	0	0	0	0	1	0	0	0	16757	159	6	3	89	3	TUBB6	18	12308711	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2421132	12308711	65768537	1454	108558											
SPIRE1	56907	broad.mit.edu	37	chr18	12454398	12454398	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atactgttggtatttttccaGctctgccttcaccaggacct	7	12	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:12454398G>C	uc002kre.2	-	13	1770	c.1723C>G	c.(1723-1725)CTG>GTG	p.L575V	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.L441V|SPIRE1_uc010wzx.1_Missense_Mutation_p.L364V|SPIRE1_uc010wzy.1_Missense_Mutation_p.L561V	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	575	Spir-box.					cytoskeleton|perinuclear region of cytoplasm	actin binding				0						TATTTTTCCAGCTCTGCCTTC	0.433													C	12454398	G	C	12454398	3	2	195	1	0	0	0	0	1	0	0	0	15070	962	34	5	567	5	SPIRE1	18	12454398	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	145687	12454398	65622850	1455	108559											
PTPN2	5771	broad.mit.edu	37	chr18	12830993	12830993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaactgctttggtcttctgCtgccaaaccataagccagaa	7	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:12830993C>T	uc002krp.2	-	4	503	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	PTPN2_uc002krl.2_Silent_p.Q103Q|PTPN2_uc002krn.2_Silent_p.Q103Q|PTPN2_uc002kro.2_Silent_p.Q103Q|PTPN2_uc002krm.2_Silent_p.Q103Q	NM_002828	NP_002819	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type	103	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)				TGGTCTTCTGCTGCCAAACCA	0.428													T	12830993	C	T	12830993	2	4	195	1	0	0	0	0	0	0	0	1	12785	796	28	2		2	PTPN2	18	12830993	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	376595	12830993	65246255	1456	108560											
CHST9	83539	broad.mit.edu	37	chr18	24722722	24722722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctactccaaatatcaGcacagagaggaagacttgtt	8	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:24722722G>A	uc002kwd.2	-	1	250	c.52C>T	c.(52-54)CTG>TTG	p.L18L	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Silent_p.L18L	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	18	Helical; Signal-anchor for type II membrane protein; (Potential).				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			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					CCAAATATCAGCACAGAGAGG	0.388													A	24722722	G	A	24722722	2	1	195	1	0	0	0	0	0	0	0	1	3411	962	34	2		2	CHST9	18	24722722	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	11891729	24722722	53354526	1457	108561											
ASXL3	80816	broad.mit.edu	37	chr18	31323658	31323658	+	Frame_Shift_Del	DEL	A	A	-													gcttgtaatataagcatgttAaaaaccatccagggaactga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:31323657_31323657TA>T	uc010dmg.1	+	11	3900	c.3845_3845TA>T	c.(3844-3846)ttafs	p.L1282fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.L989fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1282	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						ATAAGCATGTTAAAAACCATC	0.393													-	31323658	A	-	31323658	7	5	195	1	0	1	0	1	0	0	0	0	1068	359	13	0	3892	0	ASXL3	18	31323658	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	6600936	31323658	46753590	1458	108562											
MOCOS	55034	broad.mit.edu	37	chr18	33775270	33775270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgttctcccagagccagCtcgaaagcttcactagtgat	8	13	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:33775270C>T	uc002kzq.3	+	2	216	c.193C>T	c.(193-195)CTC>TTC	p.L65F		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	65					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CCAGAGCCAGCTCGAAAGCTT	0.393													T	33775270	C	T	33775270	3	4	195	1	0	0	0	0	1	0	0	0	9689	797	28	2	199	2	MOCOS	18	33775270	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2451612	33775270	44301978	1459	108563											
CELF4	56853	broad.mit.edu	37	chr18	34854283	34854283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacttactgcctgagcGtaggcgccgtaggccccgaa	12	15	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:34854283G>A	uc002lae.2	-	6	1188	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	CELF4_uc010dnd.1_Silent_p.Y263Y|CELF4_uc002lag.2_Silent_p.Y254Y|CELF4_uc002laf.2_Silent_p.Y259Y|CELF4_uc002lai.2_Silent_p.Y249Y|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.R100C	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	264	Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich.				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			ovary(2)	2						CTGCCTGAGCGTAGGCGCCGT	0.607													A	34854283	G	A	34854283	2	1	195	1	0	0	0	0	0	0	0	1	3218	1140	40	1		1	CELF4	18	34854283	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1079013	34854283	43222965	1460	108564											
PIK3C3	5289	broad.mit.edu	37	chr18	39570520	39570520	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgtttattatgaaaaggTatttcccttggaactgtttt	7	4	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:39570520T>C	uc002lap.2	+	6	772	c.714_splice	c.e6+2	p.K238_splice	PIK3C3_uc010xcl.1_Splice_Site_p.K175_splice	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3						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			lung(8)|ovary(1)|breast(1)	10						TATGAAAAGGTATTTCCCTTG	0.353										TSP Lung(28;0.18)			C	39570520	T	C	39570520	5	2	195	1	0	0	0	0	0	0	1	0	11912	1652	57	3	738	3	PIK3C3	18	39570520	Splice_Site	SNP	T	TCGA-CG-5728-01A-11D-1600-08	4716237	39570520	38506728	1461	108565											
SETBP1	26040	broad.mit.edu	37	chr18	42531185	42531185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaaaagaaagcgacgacGcaatttagcgaagttggccc	11	8	0	2	rs138819848	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:42531185G>A	uc010dni.2	+	4	2176	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	627						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCGACGACGCAATTTAGCG	0.517									Schinzel-Giedion_syndrome				A	42531185	G	A	42531185	3	1	195	1	0	0	0	0	1	0	0	0	14129	1087	38	1	2083	1	SETBP1	18	42531185	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2960665	42531185	35546063	1462	108566											
SLC14A1	6563	broad.mit.edu	37	chr18	43328373	43328373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcttggagtcggcatgGcaaactttatggctgaggtg	13	8	1	1	rs147114544	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:43328373G>A	uc010xcn.1	+	10	1298	c.979G>A	c.(979-981)GCA>ACA	p.A327T	SLC14A1_uc010dnk.2_Missense_Mutation_p.A383T|SLC14A1_uc002lbf.3_Missense_Mutation_p.A327T|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.A222T|SLC14A1_uc002lbh.3_Missense_Mutation_p.A219T|SLC14A1_uc002lbi.3_Missense_Mutation_p.A195T|SLC14A1_uc002lbj.3_Missense_Mutation_p.A383T|SLC14A1_uc002lbk.3_Missense_Mutation_p.A327T	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	327	Helical; (Potential).					integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						AGTCGGCATGGCAAACTTTAT	0.443													A	43328373	G	A	43328373	3	1	195	1	0	0	0	0	1	0	0	0	14396	1203	42	2	1177	2	SLC14A1	18	43328373	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	797188	43328373	34748875	1463	108567											
PSTPIP2	9050	broad.mit.edu	37	chr18	43595906	43595906	+	Splice_Site	DEL	A	A	-													agggcccgcttcagggtgctAaaaaaaacaagcacatatat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383													-	43595906	A	-	43595906	8	5	195	1	0	1	0	1	0	0	1	0	12722	377	13	0		0	PSTPIP2	18	43595906	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	267533	43595906	34481342	1464	108568											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-													gtcctccttgtcatcctcctCccccccgtcccccccaggct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:45567075_45567075TC>T	uc010dnv.3	-	2	906	c.470_470GA>A	c.(469-471)gagfs	p.E157fs	ZBTB7C_uc002ldb.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.3_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnw.3_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	135	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						gtcatcctcctcccccccgtc	0.577													-	45567076	C	-	45567076	7	5	195	1	0	1	0	1	0	0	0	0	17552	864	30	0	1464	0	ZBTB7C	18	45567076	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	1971170	45567076	32510172	1465	108569											
TCF4	6925	broad.mit.edu	37	chr18	53252552	53252552	+	Frame_Shift_Del	DEL	T	T	-													ttgccaaagaagttggtccaTttttcccactgctcacagga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:53252551_53252551AT>A	uc002lga.3	-	3	471	c.411_411AT>T	c.(409-411)aatfs	p.N137fs	TCF4_uc010xdx.1_Frame_Shift_Del_p.N11fs|TCF4_uc021ukj.1_Frame_Shift_Del_p.N35fs|TCF4_uc021ukk.1_Frame_Shift_Del_p.N35fs|TCF4_uc021ukl.1_Frame_Shift_Del_p.N33fs|TCF4_uc002lfz.2_Frame_Shift_Del_p.N35fs|TCF4_uc010dph.1_Frame_Shift_Del_p.N35fs|TCF4_uc010dpi.3_Frame_Shift_Del_p.N35fs|TCF4_uc010xdy.1_Frame_Shift_Del_p.N11fs|TCF4_uc021uko.1_Non-coding_Transcript|TCF4_uc021ukp.1_Frame_Shift_Del_p.W117fs	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	35					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box 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|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			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)		AAGTTGGTCCATTTTTCCCAC	0.358													-	53252552	T	-	53252552	7	5	195	1	0	1	0	1	0	0	0	0	15692	1493	52	0	1979	0	TCF4	18	53252552	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	7685476	53252552	24824696	1466	108570											
WDR7	23335	broad.mit.edu	37	chr18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-													aaaatggacagacatggaccGggggggactttgtctcatca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		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)		AGACATGGACCGGGGGGGACT	0.418													-	54358513	G	-	54358513	7	5	195	1	0	1	0	1	0	0	0	0	17317	1116	39	0	810	0	WDR7	18	54358513	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	1105961	54358513	23718735	1467	108571											
ATP8B1	5205	broad.mit.edu	37	chr18	55365040	55365041	+	Frame_Shift_Ins	INS	-	-	T													acttactggaacaaaatcatINStttttttcagacgaatgacg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:55365039_55365040A>AT	uc002lgw.3	-	6	734_735	c.614_615T>AT	c.(613-615)aatfs	p.N205fs	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	205					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)				GAACAAAATCATTTTTTTTCAG	0.386													T	55365041	-	T	55365040	7	5	195	1	0	1	1	0	0	0	0	0	1194	1493	52	0	3229	0	ATP8B1	18	55365040	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1006527	55365040	22712208	1468	108572											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	195	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-CG-5728-01A-11D-1600-08	1648245	57013285	21063963	1469	108573											
CDH20	28316	broad.mit.edu	37	chr18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaggccttcgacatcgCggccatgtggaacccccggg	13	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:59221564C>T	uc010dps.1	+	11	2054	c.2042C>T	c.(2041-2043)GCG>GTG	p.A681V	CDH20_uc002lif.2_Missense_Mutation_p.A675V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	681	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TTCGACATCGCGGCCATGTGG	0.667													T	59221564	C	T	59221564	3	4	195	1	0	0	0	0	1	0	0	0	3106	768	27	1	2084	1	CDH20	18	59221564	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2208279	59221564	18855684	1470	108574											
PHLPP1	23239	broad.mit.edu	37	chr18	60609077	60609077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcacagacaaatgtgtGcccttgttaacgggacaccc	9	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:60609077G>A	uc002lis.2	+	12	1729	c.1551G>A	c.(1549-1551)GTG>GTA	p.V517V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1029	LRR 16.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						ACAAATGTGTGCCCTTGTTAA	0.448													A	60609077	G	A	60609077	2	1	195	1	0	0	0	0	0	0	0	1	11854	1306	46	2		2	PHLPP1	18	60609077	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1387513	60609077	17468171	1471	108575											
SERPINB8	5271	broad.mit.edu	37	chr18	61654298	61654298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacttttctggaatgtcaaCtgagaagaatgtgcctctgt	10	7	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:61654298C>T	uc002ljv.2	+	7	1080	c.911C>T	c.(910-912)ACT>ATT	p.T304I	SERPINB8_uc002lju.2_Missense_Mutation_p.T304I|SERPINB8_uc010xex.1_Missense_Mutation_p.T122I	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	304					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				GGAATGTCAACTGAGAAGAAT	0.498													T	61654298	C	T	61654298	3	4	195	1	0	0	0	0	1	0	0	0	14107	565	20	4	946	4	SERPINB8	18	61654298	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1045221	61654298	16422950	1472	108576											
CD226	10666	broad.mit.edu	37	chr18	67563239	67563239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacattctttccaggttccGaaacaatgtggctatttgat	8	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:67563239G>A	uc010dqo.2	-	3	872	c.425C>T	c.(424-426)TCG>TTG	p.S142L	CD226_uc002lkm.3_Missense_Mutation_p.S142L	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	142	Ig-like C2-type 2.|Extracellular (Potential).				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				0		Esophageal squamous(42;0.129)				TCCAGGTTCCGAAACAATGTG	0.478													A	67563239	G	A	67563239	3	1	195	1	0	0	0	0	1	0	0	0	2986	1059	37	1	601	1	CD226	18	67563239	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5908941	67563239	10514009	1473	108577											
C18orf55	29090	broad.mit.edu	37	chr18	71825638	71825638	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtggtgaatatgattttCgatatatatttgtagaaatt	9	1	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:71825638C>T	uc010dqr.1	+	6	968	c.670C>T	c.(670-672)CGA>TGA	p.R224*		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	224					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)				ATATGATTTTCGATATATATT	0.333													T	71825638	C	T	71825638	4	4	195	1	0	0	0	0	0	1	0	0	1905	876	31	1	692	1	C18orf55	18	71825638	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	4262399	71825638	6251610	1474	108578											
ZNF236	7776	broad.mit.edu	37	chr18	74639309	74639309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcacgggggagcctggccTggccccacagaacagctctc	13	16	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:74639309T>C	uc002lmi.2	+	24	4442	c.4244T>C	c.(4243-4245)CTG>CCG	p.L1415P	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1415					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		GAGCCTGGCCTGGCCCCACAG	0.582													C	74639309	T	C	74639309	3	2	195	1	0	0	0	0	1	0	0	0	17786	1580	55	3	4338	3	ZNF236	18	74639309	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2813671	74639309	3437939	1475	108579											
SALL3	27164	broad.mit.edu	37	chr18	76757103	76757103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcgccatgaagaacaaCgagatctccgtcatccagaa	10	12	2	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:76757103C>T	uc002lmt.2	+	3	3684	c.3684C>T	c.(3682-3684)AAC>AAT	p.N1228N	SALL3_uc010dra.2_Silent_p.N763N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		TGAAGAACAACGAGATCTCCG	0.612													T	76757103	C	T	76757103	2	4	195	1	0	0	0	0	0	0	0	1	13812	535	19	1		1	SALL3	18	76757103	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2117794	76757103	1320145	1476	108580											
NFATC1	4772	broad.mit.edu	37	chr18	77170868	77170868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactactcgtacccgtacgCgtccccccagacgtcgccat	7	19	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:77170868C>T	uc010xfg.1	+	2	1046	c.593C>T	c.(592-594)GCG>GTG	p.A198V	NFATC1_uc002lnc.1_Missense_Mutation_p.A198V|NFATC1_uc010xff.1_Missense_Mutation_p.A198V|NFATC1_uc002lnd.2_Missense_Mutation_p.A198V|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A198V|NFATC1_uc010xfi.1_Missense_Mutation_p.A185V|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A185V|NFATC1_uc002lng.2_Missense_Mutation_p.A185V|NFATC1_uc010xfk.1_Missense_Mutation_p.A185V	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	198	Trans-activation domain A (TAD-A).				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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TACCCGTACGCGTCCCCCCAG	0.677													T	77170868	C	T	77170868	3	4	195	1	0	0	0	0	1	0	0	0	10361	768	27	1	691	1	NFATC1	18	77170868	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	413765	77170868	906380	1477	108581											
NFATC1	4772	broad.mit.edu	37	chr18	77287538	77287538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacagtaaatgaaatAatacgaaatgacctctccag	5	8	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:77287538A>G	uc010xfg.1	+	10	3246	c.2793A>G	c.(2791-2793)ATA>ATG	p.I931M	NFATC1_uc002lnd.2_3'UTR|NFATC1_uc002lne.2_3'UTR|NFATC1_uc010xfh.1_Missense_Mutation_p.I701M|NFATC1_uc010xfj.1_Missense_Mutation_p.I459M|NFATC1_uc002lnf.2_Missense_Mutation_p.I918M|NFATC1_uc002lng.2_3'UTR|NFATC1_uc010xfk.1_Missense_Mutation_p.I688M|NFATC1_uc010drc.2_RNA	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	931	Nuclear export signal.|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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TAAATGAAATAATACGAAATG	0.438													G	77287538	A	G	77287538	3	3	195	1	0	0	0	0	1	0	0	0	10361	352	13	3	2982	3	NFATC1	18	77287538	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	116670	77287538	789710	1478	108582											
CTDP1	9150	broad.mit.edu	37	chr18	77475153	77475153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaacagcgagctgtcgGgggtcactgcgggtgagtcc	16	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr18:77475153G>A	uc002lnh.1	+	8	1840	c.1693G>A	c.(1693-1695)GGG>AGG	p.G565R	CTDP1_uc002lni.1_Missense_Mutation_p.G565R|CTDP1_uc010drd.1_Missense_Mutation_p.G565R	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	565					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGAGCTGTCGGGGGTCACTGC	0.582													A	77475153	G	A	77475153	3	1	195	1	0	0	0	0	1	0	0	0	4002	1232	43	4	1723	4	CTDP1	18	77475153	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	187615	77475153	602095	1479	108583											
PPAP2C	8612	broad.mit.edu	37	chr19	287508	287508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagggtttcccctgcAcaccttctccagctgcacat	7	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:287508A>G	uc002loi.2	-	3	547	c.448T>C	c.(448-450)TGC>CGC	p.C150R	PPAP2C_uc002loh.2_Missense_Mutation_p.C171R|PPAP2C_uc002loj.2_Missense_Mutation_p.C94R	NM_003712	NP_003703	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 1	150					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		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)		TTTCCCCTGCACACCTTCTCC	0.602													G	287508	A	G	287508	3	3	195	1	0	0	0	0	1	0	0	0	12292	159	6	3	434	3	PPAP2C	19	287508	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08		287508	58841475	1480	108584											
PPAP2C	8612	broad.mit.edu	37	chr19	287537	287537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgcacatagaccgagCagttgacccggctccagtcg	11	15	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:287537C>T	uc002loi.2	-	3	518	c.419G>A	c.(418-420)TGC>TAC	p.C140Y	PPAP2C_uc002loh.2_Missense_Mutation_p.C161Y|PPAP2C_uc002loj.2_Missense_Mutation_p.C84Y	NM_003712	NP_003703	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 1	140					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		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)		ATAGACCGAGCAGTTGACCCG	0.612													T	287537	C	T	287537	3	4	195	1	0	0	0	0	1	0	0	0	12292	710	25	2	463	2	PPAP2C	19	287537	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	29	287537	58841446	1481	108585											
FSTL3	10272	broad.mit.edu	37	chr19	681536	681536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggccgctccatcggcGtgcgccacgcgggcagctgc	15	17	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:681536G>A	uc002lpk.1	+	4	744	c.709G>A	c.(709-711)GTG>ATG	p.V237M	FSTL3_uc010drt.1_RNA	NM_005860	NP_005851	O95633	FSTL3_HUMAN	follistatin-like 3 glycoprotein precursor	237	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding				0		all_epithelial(18;2.19e-21)|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)		CTCCATCGGCGTGCGCCACGC	0.697			T	CCND1	B-CLL								A	681536	G	A	681536	3	1	195	1	0	0	0	0	1	0	0	0	6078	1145	40	1	723	1	FSTL3	19	681536	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	393999	681536	58447447	1482	108586											
GRIN3B	116444	broad.mit.edu	37	chr19	1004645	1004645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacccacggggcgccccggCctgggccacggtgggcagct	18	16	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:1004645C>T	uc002lqo.1	+	3	1145	c.1145C>T	c.(1144-1146)GCC>GTC	p.A382V		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	382	Extracellular (Potential).				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				0		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)	GGCGCCCCGGCCTGGGCCACG	0.736													T	1004645	C	T	1004645	3	4	195	1	0	0	0	0	1	0	0	0	6784	739	26	2	1155	2	GRIN3B	19	1004645	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	323109	1004645	58124338	1483	108587											
APC2	10297	broad.mit.edu	37	chr19	1468467	1468467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctgtccttcgtatccGggctgtcagtgggatccacc	10	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:1468467G>A	uc002lsr.1	+	15	5375	c.5167G>A	c.(5167-5169)GGG>AGG	p.G1723R	APC2_uc002lss.1_Missense_Mutation_p.G1305R|APC2_uc002lst.1_Missense_Mutation_p.G1723R|APC2_uc002lsu.1_Missense_Mutation_p.G1722R|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1723					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)|pancreas(1)	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)		CTTCGTATCCGGGCTGTCAGT	0.657													A	1468467	G	A	1468467	3	1	195	1	0	0	0	0	1	0	0	0	764	1116	39	1	5221	1	APC2	19	1468467	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	463822	1468467	57660516	1484	108588											
TCF3	6929	broad.mit.edu	37	chr19	1619109	1619109	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaagctcaagggcttaCcactgtaggagtcgggaggc	14	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:1619109C>T	uc002ltr.2	-	16	1517	c.1450_splice	c.e16+1	p.G484_splice	TCF3_uc002lto.2_Splice_Site_p.G245_splice|TCF3_uc002ltt.3_Splice_Site_p.G484_splice|TCF3_uc002ltq.2_Splice_Site_p.G433_splice|TCF3_uc002lts.1_Splice_Site_p.G400_splice	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12						B cell lineage commitment|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|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|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		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)		CAAGGGCTTACCACTGTAGGA	0.657			T	PBX1|HLF|TFPT	pre B-ALL								T	1619109	C	T	1619109	5	4	195	1	0	0	0	0	0	0	1	0	15691	521	18	4	760	4	TCF3	19	1619109	Splice_Site	SNP	C	TCGA-CG-5728-01A-11D-1600-08	150642	1619109	57509874	1485	108589											
SLC39A3	29985	broad.mit.edu	37	chr19	2737213	2737213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcatgaagaagaacaCgcccaccatgcacaggattt	10	11	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:2737213C>T	uc002lwg.2	-	2	297	c.43G>A	c.(43-45)GTG>ATG	p.V15M	SLC39A3_uc010xgy.1_Missense_Mutation_p.V15M|SLC39A3_uc002lwh.2_Missense_Mutation_p.V15M	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	15	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		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)		AAGAAGAACACGCCCACCATG	0.557													T	2737213	C	T	2737213	3	4	195	1	0	0	0	0	1	0	0	0	14619	536	19	1	1017	1	SLC39A3	19	2737213	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1118104	2737213	56391770	1486	108590											
ZNF556	80032	broad.mit.edu	37	chr19	2877353	2877353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaagactcgaaattgtAatcgtcatctgcgcaagaat	8	8	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:2877353A>G	uc002lwp.1	+	4	484	c.397A>G	c.(397-399)AAT>GAT	p.N133D	ZNF556_uc002lwq.2_Missense_Mutation_p.N132D	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		TCGAAATTGTAATCGTCATCT	0.423													G	2877353	A	G	2877353	3	3	195	1	0	0	0	0	1	0	0	0	17984	362	13	3	411	3	ZNF556	19	2877353	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	140140	2877353	56251630	1487	108591											
NFIC	4782	broad.mit.edu	37	chr19	3382066	3382066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggacaaggtgtggcgGctggacctggtcatggtcat	17	9	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:3382066G>A	uc010xhi.1	+	2	449	c.387G>A	c.(385-387)CGG>CGA	p.R129R	NFIC_uc002lxo.2_Silent_p.R120R|NFIC_uc010xhh.1_Silent_p.R120R|NFIC_uc002lxp.2_Silent_p.R129R|NFIC_uc010xhj.1_Silent_p.R129R|NFIC_uc002lxq.1_Silent_p.R81R	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	129	CTF/NF-I.				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				0		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)		AGGTGTGGCGGCTGGACCTGG	0.672													A	3382066	G	A	3382066	2	1	195	1	0	0	0	0	0	0	0	1	10372	1190	42	2		2	NFIC	19	3382066	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	504713	3382066	55746917	1488	108592											
ZFR2	23217	broad.mit.edu	37	chr19	3834969	3834969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagtgggcaggggaagggtCggaggctgggcgctagaacc	20	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:3834969C>T	uc002lyw.2	-	2	78	c.66G>A	c.(64-66)CCG>CCA	p.P22P	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	22						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGGAAGGGTCGGAGGCTGGG	0.627													T	3834969	C	T	3834969	2	4	195	1	0	0	0	0	0	0	0	1	17657	871	31	1		1	ZFR2	19	3834969	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	452903	3834969	55294014	1489	108593											
PIAS4	51588	broad.mit.edu	37	chr19	4024034	4024034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgtgtttgtcttcagTcccacagaacaacgagaagc	9	13	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:4024034T>C	uc002lzg.2	+	3	465	c.455T>C	c.(454-456)GTC>GCC	p.V152A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	152	PINIT.				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			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTCTTCAGTCCCACAGAAC	0.607													C	4024034	T	C	4024034	3	2	195	1	0	0	0	0	1	0	0	0	11878	1681	58	3	465	3	PIAS4	19	4024034	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	189065	4024034	55104949	1490	108594											
SH3GL1	6455	broad.mit.edu	37	chr19	4361746	4361746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccagctccccgtcgttctCgggctcgaagtcgtacagcg	12	16	1	0	rs146842065		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:4361746C>T	uc002maj.2	-	10	1064	c.958G>A	c.(958-960)GAG>AAG	p.E320K	SH3GL1_uc002mak.2_Missense_Mutation_p.E256K|SH3GL1_uc010xig.1_Missense_Mutation_p.E272K	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	320	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCGTCGTTCTCGGGCTCGAAG	0.687			T	MLL	AL								T	4361746	C	T	4361746	3	4	195	1	0	0	0	0	1	0	0	0	14250	893	31	1	152	1	SH3GL1	19	4361746	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	337712	4361746	54767237	1491	108595											
SH3GL1	6455	broad.mit.edu	37	chr19	4361778	4361778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacagcgccttgcagctcGgctggtccaggggcgctggg	17	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:4361778G>A	uc002maj.2	-	10	1032	c.926C>T	c.(925-927)CCG>CTG	p.P309L	SH3GL1_uc002mak.2_Missense_Mutation_p.P245L|SH3GL1_uc010xig.1_Missense_Mutation_p.P261L	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	309	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTTGCAGCTCGGCTGGTCCAG	0.677			T	MLL	AL								A	4361778	G	A	4361778	3	1	195	1	0	0	0	0	1	0	0	0	14250	1116	39	1	184	1	SH3GL1	19	4361778	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	32	4361778	54767205	1492	108596											
CHAF1A	10036	broad.mit.edu	37	chr19	4428859	4428859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccggacccacgcacgttTccacccggaatgcagatatt	10	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:4428859T>C	uc002mal.2	+	8	1676	c.1576T>C	c.(1576-1578)TCC>CCC	p.S526P		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	526					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	p.S526F(1)		ovary(1)|skin(1)	2		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)		CACGCACGTTTCCACCCGGAA	0.602								Chromatin_Structure					C	4428859	T	C	4428859	3	2	195	1	0	0	0	0	1	0	0	0	3311	1783	62	3	1606	3	CHAF1A	19	4428859	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	67081	4428859	54700124	1493	108597											
PLIN4	729359	broad.mit.edu	37	chr19	4511362	4511362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccactttcgcagcaccGgtcaccccactgccaagggt	10	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:4511362G>A	uc002mar.1	-	3	2568	c.2568C>T	c.(2566-2568)ACC>ACT	p.T856T	PLIN4_uc010dub.1_Intron	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	856	27 X 33 AA approximate tandem repeat.|24.					lipid particle|plasma membrane					0						TCGCAGCACCGGTCACCCCAC	0.587													A	4511362	G	A	4511362	2	1	195	1	0	0	0	0	0	0	0	1	12092	1103	39	1		1	PLIN4	19	4511362	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	82503	4511362	54617621	1494	108598											
KDM4B	23030	broad.mit.edu	37	chr19	5047640	5047640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccgaggacatggacctgTacagcatcaactacctgcac	8	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:5047640T>C	uc002mbq.3	+	6	812	c.586T>C	c.(586-588)TAC>CAC	p.Y196H	KDM4B_uc010xil.1_Missense_Mutation_p.Y196H|KDM4B_uc010xim.1_Missense_Mutation_p.Y196H	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	196	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			lung(1)	1						CATGGACCTGTACAGCATCAA	0.632													C	5047640	T	C	5047640	3	2	195	1	0	0	0	0	1	0	0	0	8129	1638	57	3	600	3	KDM4B	19	5047640	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	536278	5047640	54081343	1495	108599											
SAFB2	9667	broad.mit.edu	37	chr19	5587937	5587937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatggcaccctgccaggcGcgtgcctggtgctcctctag	12	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:5587937G>A	uc002mcd.2	-	19	2792	c.2580C>T	c.(2578-2580)CGC>CGT	p.R860R		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	860	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCTGCCAGGCGCGTGCCTGGT	0.662													A	5587937	G	A	5587937	2	1	195	1	0	0	0	0	0	0	0	1	13807	1074	38	1		1	SAFB2	19	5587937	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	540297	5587937	53541046	1496	108600											
SAFB2	9667	broad.mit.edu	37	chr19	5621342	5621344	+	In_Frame_Del	DEL	CTT	CTT	-													ttaacacatctcttggctgaCttcttgctggtggcttctaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:5621341_5621343ACTT>A	uc002mcd.3	-	1	463_465	c.251_253AAGT>T	c.(250-255)aagtca>aTca	p.84_85KS>I	SAFB_uc010xiq.2_5'Flank|SAFB_uc002mcf.3_5'Flank|SAFB_uc002mcg.3_5'Flank|SAFB_uc002mce.4_5'Flank|SAFB_uc010xis.2_5'Flank|SAFB_uc010xit.2_5'Flank|SAFB_uc010xir.2_5'Flank|SAFB_uc010xiu.2_5'Flank|SAFB2_uc010xio.1_In_Frame_Del_p.84_85KS>I|SAFB2_uc010xip.1_Non-coding_Transcript	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein 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)		CTCTTGGCTGACTTCTTGCTGGT	0.438													-	5621344	CTT	-	5621342	7	5	195	1	0	1	0	1	0	0	0	0	13807	564	20	0	2689	0	SAFB2	19	5621342	In_Frame_Del	DEL	CTT	TCGA-CG-5728-01A-11D-1600-08	33405	5621342	53507641	1497	108601											
C3	718	broad.mit.edu	37	chr19	6678248	6678248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagggcttctctgcactTgatggggctgatgaacgtgc	13	10	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:6678248T>C	uc002mfm.2	-	40	4827	c.4765A>G	c.(4765-4767)AAG>GAG	p.K1589E	C3_uc002mfl.2_Missense_Mutation_p.K325E	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1589	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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTCTGCACTTGATGGGGCTG	0.582													C	6678248	T	C	6678248	3	2	195	1	0	0	0	0	1	0	0	0	2204	1821	63	3	234	3	C3	19	6678248	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1056906	6678248	52450735	1498	108602											
C3	718	broad.mit.edu	37	chr19	6690640	6690640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagatggagggcacttacGttgacctgctcctcgcaaat	12	10	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:6690640G>A	uc002mfm.2	-	27	3551	c.3489C>T	c.(3487-3489)AAC>AAT	p.N1163N	C3_uc002mfl.2_5'UTR	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1163				N->A: No effect on binding of C3d to CR2. Impaired binding of C3d to CR2; when associated with 1108-R-R-1109.|N->R: Impaired binding of C3d to CR2.	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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGGCACTTACGTTGACCTGCT	0.537													A	6690640	G	A	6690640	2	1	195	1	0	0	0	0	0	0	0	1	2204	1159	40	1		1	C3	19	6690640	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	12392	6690640	52438343	1499	108603											
GPR108	56927	broad.mit.edu	37	chr19	6736719	6736719	+	Frame_Shift_Del	DEL	C	C	-													ctggatgtccgctcgcttctCcccctgccggagaccaagga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:6736718_6736718TC>T	uc002mfp.3	-	1	171	c.125_125GA>A	c.(124-126)gagfs	p.E42fs	TRIP10_uc010dux.2_5'Flank|TRIP10_uc002mfr.3_5'Flank|TRIP10_uc002mfs.3_5'Flank|TRIP10_uc010duy.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	42						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CGCTCGCTTCTCCCCCTGCCG	0.642											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	6736719	C	-	6736719	7	5	195	1	0	1	0	1	0	0	0	0	6624	864	30	0	1575	0	GPR108	19	6736719	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	46079	6736719	52392264	1500	108604											
ARHGEF18	23370	broad.mit.edu	37	chr19	7523449	7523449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcatcgtgagggaagtgGccaacgaggagaaagcgatg	16	7	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:7523449G>A	uc002mgi.2	+	9	1922	c.1669G>A	c.(1669-1671)GCC>ACC	p.A557T	ARHGEF18_uc010xjm.1_Missense_Mutation_p.A399T|ARHGEF18_uc002mgh.2_Missense_Mutation_p.A399T|ARHGEF18_uc002mgj.1_Missense_Mutation_p.A200T	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	557	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			ovary(1)	1		Renal(5;0.0902)				GAGGGAAGTGGCCAACGAGGA	0.542													A	7523449	G	A	7523449	3	1	195	1	0	0	0	0	1	0	0	0	901	1203	42	2	1703	2	ARHGEF18	19	7523449	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	786730	7523449	51605534	1501	108605											
HNRNPM	4670	broad.mit.edu	37	chr19	8520329	8520329	+	Frame_Shift_Del	DEL	A	A	-													agaatgagaagaggaaggagAaaaacataaaaagaggaggc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:8520328_8520328GA>G	uc010dwe.3	+	1	233	c.153_153GA>G	c.(151-153)gagfs	p.E51fs	HNRNPM_uc010dwc.1_Frame_Shift_Del_p.E51fs|HNRNPM_uc010xke.1_Frame_Shift_Del_p.E51fs|HNRNPM_uc010dwd.3_Frame_Shift_Del_p.E51fs	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	51				E -> V (in Ref. 1; AAA36192).	alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGAGGAAGGAGAAAAACATAA	0.393													-	8520329	A	-	8520329	7	5	195	1	0	1	0	1	0	0	0	0	7271	247	9	0	160	0	HNRNPM	19	8520329	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	996880	8520329	50608654	1502	108606											
MUC16	94025	broad.mit.edu	37	chr19	9049967	9049967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaacagatggggttgtcCtgggaagagctgtgctggtt	16	5	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:9049967C>A	uc002mkp.2	-	5	31868	c.31664G>T	c.(31663-31665)AGG>ATG	p.R10555M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10557	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGGGTTGTCCTGGGAAGAGC	0.483													A	9049967	C	A	9049967	3	1	195	1	0	0	0	0	1	0	0	0	9973	681	24	5	12179	5	MUC16	19	9049967	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	529638	9049967	50079016	1503	108607											
MUC16	94025	broad.mit.edu	37	chr19	9083647	9083647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggggaagtggaagaaggaTggagtggactttctgttact	17	3	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:9083647T>C	uc002mkp.2	-	1	8372	c.8168A>G	c.(8167-8169)CAT>CGT	p.H2723R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2723	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAAGAAGGATGGAGTGGACT	0.468													C	9083647	T	C	9083647	3	2	195	1	0	0	0	0	1	0	0	0	9973	1464	51	3	35691	3	MUC16	19	9083647	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	33680	9083647	50045336	1504	108608											
SMARCA4	6597	broad.mit.edu	37	chr19	11097631	11097631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcgggcgtgccccccGggatgccaggccagcctcct	13	19	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:11097631G>A	uc002mqf.3	+	5	1095	c.811G>A	c.(811-813)GGG>AGG	p.G271R	SMARCA4_uc010dxp.2_Missense_Mutation_p.G271R|SMARCA4_uc010dxo.2_Missense_Mutation_p.G271R|SMARCA4_uc002mqg.1_Missense_Mutation_p.G271R|SMARCA4_uc010dxq.2_Missense_Mutation_p.G271R|SMARCA4_uc010dxr.2_Missense_Mutation_p.G271R|SMARCA4_uc002mqj.3_Missense_Mutation_p.G271R|SMARCA4_uc010dxs.2_Missense_Mutation_p.G271R|SMARCA4_uc002mqe.2_Missense_Mutation_p.G271R	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	271	Necessary for interaction with SS18L1/CREST (By similarity).				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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGTGCCCCCCGGGATGCCAGG	0.617			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11097631	G	A	11097631	3	1	195	1	0	0	0	0	1	0	0	0	14770	1116	39	1	825	1	SMARCA4	19	11097631	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2013984	11097631	48031352	1505	108609											
RGL3	57139	broad.mit.edu	37	chr19	11527510	11527510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttatggttcgctactgacCcgggaggtgggggcggtggc	20	8	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:11527510C>T	uc002mrp.2	-	3	435	c.371G>A	c.(370-372)GGG>GAG	p.G124E	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.G124E|RGL3_uc002mrq.2_Missense_Mutation_p.G124E	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	124	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CGCTACTGACCCGGGAGGTGG	0.622													T	11527510	C	T	11527510	3	4	195	1	0	0	0	0	1	0	0	0	13278	637	22	4	1847	4	RGL3	19	11527510	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	429879	11527510	47601473	1506	108610											
PRKCSH	5589	broad.mit.edu	37	chr19	11552119	11552119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcacccgcgaagggttcCgtctgaagaagatccttatt	11	10	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:11552119C>T	uc002mrt.2	+	6	751	c.415C>T	c.(415-417)CGT>TGT	p.R139C	PRKCSH_uc002mru.2_Missense_Mutation_p.R139C|PRKCSH_uc010xlz.1_Missense_Mutation_p.R139C|PRKCSH_uc010dya.2_Silent_p.S107S|PRKCSH_uc002mrv.1_Missense_Mutation_p.R139C|PRKCSH_uc010dyb.2_Missense_Mutation_p.R139C	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	139					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CGAAGGGTTCCGTCTGAAGAA	0.627													T	11552119	C	T	11552119	3	4	195	1	0	0	0	0	1	0	0	0	12516	652	23	1	433	1	PRKCSH	19	11552119	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	24609	11552119	47576864	1507	108611											
ZNF878	729747	broad.mit.edu	37	chr19	12155486	12155486	+	Frame_Shift_Del	DEL	T	T	-													agtgtgacttttctcgtgtcTttttaacgaactgggagaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:12155485_12155485CT>C	uc021upl.1	-	3	897	c.731_731AG>G	c.(730-732)agafs	p.R244fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.R291fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	244					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						TTTCTCGTGTCTTTTTAACGA	0.398													-	12155486	T	-	12155486	7	5	195	1	0	1	0	1	0	0	0	0	18193	1617	56	0	869	0	ZNF878	19	12155486	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	603367	12155486	46973497	1508	108612											
RAD23A	5886	broad.mit.edu	37	chr19	13063564	13063564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccccctggggagctggCggacatctcagatgtggagg	17	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:13063564C>T	uc002mvw.1	+	8	984	c.875C>T	c.(874-876)GCG>GTG	p.A292V	RAD23A_uc002mvx.1_Missense_Mutation_p.A291V|RAD23A_uc002mvz.1_Missense_Mutation_p.A291V|RAD23A_uc002mwa.1_Intron|RAD23A_uc002mvy.1_Missense_Mutation_p.A126V|RAD23A_uc010xmw.1_Missense_Mutation_p.A127V	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	292					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)	1						GGGGAGCTGGCGGACATCTCA	0.602								NER					T	13063564	C	T	13063564	3	4	195	1	0	0	0	0	1	0	0	0	12982	768	27	1	905	1	RAD23A	19	13063564	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	908078	13063564	46065419	1509	108613											
OR7C1	26664	broad.mit.edu	37	chr19	14910551	14910551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggggttcatgatgaccGtatagtgcagggggtgacag	18	6	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:14910551G>A	uc010xnz.1	-	1	398	c.398C>T	c.(397-399)ACG>ATG	p.T133M		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	133	Cytoplasmic (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						CATGATGACCGTATAGTGCAG	0.522													A	14910551	G	A	14910551	3	1	195	1	0	0	0	0	1	0	0	0	11217	1145	40	1	566	1	OR7C1	19	14910551	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1846987	14910551	44218432	1510	108614											
CYP4F3	4051	broad.mit.edu	37	chr19	15752380	15752380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgcctccggtgtttccCgcaacccccgaaacggaatt	9	17	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:15752380C>T	uc002nbj.2	+	2	205	c.155C>T	c.(154-156)CCG>CTG	p.P52L	CYP4F3_uc010xok.1_Missense_Mutation_p.P52L|CYP4F3_uc010xol.1_Missense_Mutation_p.P52L|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Missense_Mutation_p.P52L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	52					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			ovary(3)	3						CGGTGTTTCCCGCAACCCCCG	0.637													T	15752380	C	T	15752380	3	4	195	1	0	0	0	0	1	0	0	0	4190	652	23	1	157	1	CYP4F3	19	15752380	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	841829	15752380	43376603	1511	108615											
OR10H2	26538	broad.mit.edu	37	chr19	15839381	15839381	+	Frame_Shift_Del	DEL	T	T	-													ggatcccatgagatccagcaTtttttatgtcatgtgccacc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:15839380_15839380AT>A	uc002nbm.2	+	0	547	c.527_527AT>A	c.(526-528)catfs	p.H176fs		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					GAGATCCAGCATTTTTTATGT	0.547													-	15839381	T	-	15839381	7	5	195	1	0	1	0	1	0	0	0	0	10906	1490	52	0	530	0	OR10H2	19	15839381	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	87001	15839381	43289602	1512	108616											
OR10H2	26538	broad.mit.edu	37	chr19	15839703	15839703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctacgcagtcctcacgCccttcctcagccccatcatc	4	22	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:15839703C>T	uc002nbm.2	+	1	870	c.850C>T	c.(850-852)CCC>TCC	p.P284S		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					AGTCCTCACGCCCTTCCTCAG	0.552													T	15839703	C	T	15839703	3	4	195	1	0	0	0	0	1	0	0	0	10906	739	26	2	852	2	OR10H2	19	15839703	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	322	15839703	43289280	1513	108617											
CYP4F2	8529	broad.mit.edu	37	chr19	16003188	16003188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttgaaatggaaggcaggCgtcagcatccgacggtggcg	16	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:16003188C>T	uc002nbs.1	-	5	506	c.456G>A	c.(454-456)ACG>ACA	p.T152T	CYP4F2_uc010xot.1_Silent_p.T3T|CYP4F2_uc010xou.1_Silent_p.T3T	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	152					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			ovary(1)|skin(1)	2						GGAAGGCAGGCGTCAGCATCC	0.552													T	16003188	C	T	16003188	2	4	195	1	0	0	0	0	0	0	0	1	4188	755	27	1		1	CYP4F2	19	16003188	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	163485	16003188	43125795	1514	108618											
CHERP	10523	broad.mit.edu	37	chr19	16632356	16632356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcctgtcgtgggacGgggggctgtagaaggcctcc	18	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:16632356G>A	uc002nei.1	-	12	2164	c.2090C>T	c.(2089-2091)CCG>CTG	p.P697L	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.P236L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	697					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GTCGTGGGACGGGGGGCTGTA	0.667													A	16632356	G	A	16632356	3	1	195	1	0	0	0	0	1	0	0	0	3336	1116	39	1	684	1	CHERP	19	16632356	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	629168	16632356	42496627	1515	108619											
MED26	9441	broad.mit.edu	37	chr19	16689216	16689216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccgccaccatgttcCggatctgtggaaataaaaag	9	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:16689216C>T	uc002nen.1	-	2	338	c.77G>A	c.(76-78)CGG>CAG	p.R26Q	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	26	TFIIS N-terminal.				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			ovary(2)	2						CACCATGTTCCGGATCTGTGG	0.557													T	16689216	C	T	16689216	3	4	195	1	0	0	0	0	1	0	0	0	9444	652	23	1	1733	1	MED26	19	16689216	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	56860	16689216	42439767	1516	108620											
NWD1	284434	broad.mit.edu	37	chr19	16874647	16874647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctgccaggtggccccGcagcctctgtggttctcaca	10	17	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:16874647G>A	uc002neu.3	+	9	2564	c.2142G>A	c.(2140-2142)CCG>CCA	p.P714P	NWD1_uc002net.3_Silent_p.P579P|NWD1_uc002nev.3_Silent_p.P508P			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	714							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						AGGTGGCCCCGCAGCCTCTGT	0.572													A	16874647	G	A	16874647	2	1	195	1	0	0	0	0	0	0	0	1	10781	1074	38	1		1	NWD1	19	16874647	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	185431	16874647	42254336	1517	108621											
SIN3B	23309	broad.mit.edu	37	chr19	16962291	16962291	+	Frame_Shift_Del	DEL	C	C	-													cacgacaagaccccggagcaCagcaggaagcgctcccggcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:16962290_16962290AC>A	uc002ney.2	+	5	817	c.794_794AC>A	c.(793-795)cacfs	p.H265fs	SIN3B_uc002new.3_Frame_Shift_Del_p.H265fs|SIN3B_uc002nez.2_Frame_Shift_Del_p.H265fs	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	265					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						ACCCCGGAGCACAGCAGGAAG	0.662													-	16962291	C	-	16962291	7	5	195	1	0	1	0	1	0	0	0	0	14326	477	17	0	817	0	SIN3B	19	16962291	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	87644	16962291	42166692	1518	108622											
PLVAP	83483	broad.mit.edu	37	chr19	17476311	17476311	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttctccaccttctgtttCgcctcctgactggcccgcag	7	18	2	1	rs150210307		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:17476311C>T	uc002ngk.1	-	3	1013	c.963G>A	c.(961-963)GCG>GCA	p.A321A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CCTTCTGTTTCGCCTCCTGAC	0.667													T	17476311	C	T	17476311	2	4	195	1	0	0	0	0	0	0	0	1	12116	871	31	1		1	PLVAP	19	17476311	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	514020	17476311	41652672	1519	108623											
KIAA1683	80726	broad.mit.edu	37	chr19	18368203	18368203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctttgtcctggcgatgCggctgcctgggactcagggc	16	13	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:18368203C>T	uc002nin.2	-	4	3546	c.3330G>A	c.(3328-3330)CCG>CCA	p.P1110P	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Silent_p.P1297P|KIAA1683_uc010xqe.1_Silent_p.P1064P|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	1110						mitochondrion				ovary(2)	2						CCTGGCGATGCGGCTGCCTGG	0.662													T	18368203	C	T	18368203	2	4	195	1	0	0	0	0	0	0	0	1	8251	755	27	1		1	KIAA1683	19	18368203	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	891892	18368203	40760780	1520	108624											
KIAA1683	80726	broad.mit.edu	37	chr19	18368702	18368702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccacagccggatcctgCgacgcgccaggtagccacgg	15	15	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:18368702C>T	uc002nin.2	-	4	3047	c.2831G>A	c.(2830-2832)CGC>CAC	p.R944H	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1131H|KIAA1683_uc010xqe.1_Missense_Mutation_p.R898H|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	944	IQ 2.					mitochondrion				ovary(2)	2						CCGGATCCTGCGACGCGCCAG	0.672													T	18368702	C	T	18368702	3	4	195	1	0	0	0	0	1	0	0	0	8251	768	27	1	715	1	KIAA1683	19	18368702	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	499	18368702	40760281	1521	108625											
ZNF101	94039	broad.mit.edu	37	chr19	19790992	19790992	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaccctttgattgtaaacaGtgtggtaaagtctttacttt	7	6	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:19790992G>C	uc002nni.1	+	4	1304	c.1194G>C	c.(1192-1194)CAG>CAC	p.Q398H	ZNF101_uc010ecg.1_Missense_Mutation_p.Q278H|ZNF101_uc002nnj.1_Missense_Mutation_p.Q278H	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	398	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATTGTAAACAGTGTGGTAAAG	0.348													C	19790992	G	C	19790992	3	2	195	1	0	0	0	0	1	0	0	0	17711	1020	36	5	1208	5	ZNF101	19	19790992	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1422290	19790992	39337991	1522	108626											
ZNF506	440515	broad.mit.edu	37	chr19	19905597	19905598	+	Frame_Shift_Del	DEL	TC	TC	-													ttcttcacacttgtagggttTctctccagtatgagctctct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:19905596_19905597TTC>T	uc010eci.2	-	3	1247_1248	c.1099_1100GAA>A	c.(1099-1101)aaafs	p.K367fs	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Frame_Shift_Del_p.K335fs	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CTTGTAGGGTTTCTCTCCAGTA	0.396													-	19905598	TC	-	19905597	7	5	195	1	0	1	0	1	0	0	0	0	17949	1792	62	0	239	0	ZNF506	19	19905597	Frame_Shift_Del	DEL	TC	TCGA-CG-5728-01A-11D-1600-08	114605	19905597	39223386	1523	108627											
ZNF486	90649	broad.mit.edu	37	chr19	20308052	20308052	+	Frame_Shift_Del	DEL	A	A	-													acataaaagaagacatactgAaaaaaaacctttgaaatata							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:20308051_20308051GA>G	uc002nou.2	+	3	589	c.532_532GA>G	c.(532-534)gaafs	p.E178fs		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	178					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						AAGACATACTGAAAAAAAACC	0.303													-	20308052	A	-	20308052	7	5	195	1	0	1	0	1	0	0	0	0	17936	246	9	0	547	0	ZNF486	19	20308052	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	402455	20308052	38820931	1524	108628											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					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)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	195	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	1684035	21992087	37136896	1525	108629											
ZNF676	163223	broad.mit.edu	37	chr19	22363169	22363169	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttgccacattcttcacaTttgtagggtttctctccagc	7	12	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:22363169T>C	uc002nqs.1	-	3	1668	c.1350A>G	c.(1348-1350)AAA>AAG	p.K450K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	450	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTCTTCACATTTGTAGGGTT	0.438													C	22363169	T	C	22363169	2	2	195	1	0	0	0	0	0	0	0	1	18080	1490	52	3		3	ZNF676	19	22363169	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	371082	22363169	36765814	1526	108630											
ZNF676	163223	broad.mit.edu	37	chr19	22363511	22363511	+	Silent	SNP	G	G	A													ccgcattcttcacatttgtaGggtttctctccagcatgaat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:22363511G>A	uc002nqs.1	-	3	1326	c.1008C>T	c.(1006-1008)CCC>CCT	p.P336P		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.408													A	22363511	G	A	22363511	2	1	195	1	0	0	0	0	0	0	0	1	18080	987	35	4		4	ZNF676	19	22363511	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	342	22363511	36765472	1527	108631	518	2									
ZNF676	163223	broad.mit.edu	37	chr19	22363521	22363521	+	Missense_Mutation	SNP	C	C	G													cacatttgtagggtttctctCcagcatgaattctcttgtgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:22363521C>G	uc002nqs.1	-	3	1316	c.998G>C	c.(997-999)GGA>GCA	p.G333A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTTCTCTCCAGCATGAAT	0.403													G	22363521	C	G	22363521	3	3	195	1	0	0	0	0	1	0	0	0	18080	855	30	5	772	5	ZNF676	19	22363521	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	10	22363521	36765462	1528	108632	518	2									
ZNF676	163223	broad.mit.edu	37	chr19	22375886	22375886	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgctccagaaaaatgAtcaggtctggcttaaaggca	9	9	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:22375886A>T	uc002nqs.1	-	2	380	c.62T>A	c.(61-63)ATC>AAC	p.I21N		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGAAAAATGATCAGGTCTGG	0.403													T	22375886	A	T	22375886	3	4	195	1	0	0	0	0	1	0	0	0	18080	333	12	5	1712	5	ZNF676	19	22375886	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	12365	22375886	36753097	1529	108633											
ZNF91	7644	broad.mit.edu	37	chr19	23543818	23543818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttacatttgtagggtttctCtccagtatgaattctcttat	6	7	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:23543818C>G	uc002nre.2	-	4	2076	c.1963G>C	c.(1963-1965)GAG>CAG	p.E655Q	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.E623Q	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	655						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGGGTTTCTCTCCAGTATGA	0.388													G	23543818	C	G	23543818	3	3	195	1	0	0	0	0	1	0	0	0	18197	922	32	5	1616	5	ZNF91	19	23543818	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1167932	23543818	35585165	1530	108634											
ZNF681	148213	broad.mit.edu	37	chr19	23927062	23927062	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgaggattggttagaAgctttgccacatttttcaca	10	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:23927062A>C	uc002nrk.3	-	4	1432	c.1290T>G	c.(1288-1290)GCT>GCG	p.A430A	ZNF681_uc002nrl.3_Silent_p.A361A|ZNF681_uc002nrj.3_Silent_p.A361A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	430	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTGGTTAGAAGCTTTGCCAC	0.373													C	23927062	A	C	23927062	2	2	195	1	0	0	0	0	0	0	0	1	18085	59	3	5		5	ZNF681	19	23927062	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	383244	23927062	35201921	1531	108635											
CCNE1	898	broad.mit.edu	37	chr19	30313408	30313408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatggttccatttgccatGgttataagggagacggggag	16	5	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:30313408G>T	uc002nsn.2	+	11	1191	c.1008G>T	c.(1006-1008)ATG>ATT	p.M336I	CCNE1_uc002nso.2_Missense_Mutation_p.M321I|CCNE1_uc002nsp.2_Missense_Mutation_p.M83I	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	336					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			lung(2)	2	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)			CATTTGCCATGGTTATAAGGG	0.502													T	30313408	G	T	30313408	3	4	195	1	0	0	0	0	1	0	0	0	2920	1348	47	5	1046	5	CCNE1	19	30313408	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6386346	30313408	28815575	1532	108636											
ZNF507	22847	broad.mit.edu	37	chr19	32845518	32845521	+	Frame_Shift_Del	DEL	GAGA	GAGA	-													ctcaccgtcattgaaaaattGagagaaaggacagaccaaaa							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:32845517_32845520TGAGA>T	uc002nte.3	+	2	2053_2056	c.1781_1784TGAGA>T	c.(1780-1785)ttgagafs	p.L594fs	ZNF507_uc002ntc.2_Frame_Shift_Del_p.L594fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.L594fs|ZNF507_uc002ntd.3_Frame_Shift_Del_p.L594fs	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	594					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)					ATTGAAAAATTGAGAGAAAGGACA	0.485													-	32845521	GAGA	-	32845518	7	5	195	1	0	1	0	1	0	0	0	0	17950	1281	45	0	1784	0	ZNF507	19	32845518	Frame_Shift_Del	DEL	GAGA	TCGA-CG-5728-01A-11D-1600-08	2532110	32845518	26283465	1533	108637											
PDCD2L	84306	broad.mit.edu	37	chr19	34904755	34904755	+	Splice_Site	DEL	A	A	-													tcaggagcagattttgaggtAaaaaaaggcacagttccttt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:34904754_34904754TA>T	uc002nvj.3	+	5	830	c.797_splice	c.e5+2	p.R266_splice		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	266						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GATTTTGAGGTAAAAAAAGGC	0.328													-	34904755	A	-	34904755	8	5	195	1	0	1	0	1	0	0	1	0	11620	377	13	0		0	PDCD2L	19	34904755	Splice_Site	DEL	A	TCGA-CG-5728-01A-11D-1600-08	2059237	34904755	24224228	1534	108638											
MAG	4099	broad.mit.edu	37	chr19	35791095	35791095	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggtggaggccatcgAgggctcccacgtgagcctgc	14	15	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:35791095A>T	uc002nyy.1	+	6	907	c.758A>T	c.(757-759)GAG>GTG	p.E253V	MAG_uc002nyx.1_Missense_Mutation_p.E253V|MAG_uc010eds.1_Missense_Mutation_p.E228V|MAG_uc002nyz.1_Missense_Mutation_p.E253V	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	253	Ig-like C2-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			GAGGCCATCGAGGGCTCCCAC	0.682													T	35791095	A	T	35791095	3	4	195	1	0	0	0	0	1	0	0	0	9162	304	11	5	772	5	MAG	19	35791095	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	886340	35791095	23337888	1535	108639											
COX6B1	1340	broad.mit.edu	37	chr19	36149530	36149530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaacgggctgaaggcaCgtttcccgggaagatctgaa	14	9	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:36149530C>T	uc002oav.2	+	4	404	c.242C>T	c.(241-243)ACG>ATG	p.T81M		NM_001863	NP_001854	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1	81					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity				0	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)			GCTGAAGGCACGTTTCCCGGG	0.552													T	36149530	C	T	36149530	3	4	195	1	0	0	0	0	1	0	0	0	3776	536	19	1	252	1	COX6B1	19	36149530	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	358435	36149530	22979453	1536	108640											
ARHGAP33	115703	broad.mit.edu	37	chr19	36276343	36276343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgtcacactgagatctGccaagagcgaggagtctctg	11	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:36276343G>A	uc002obr.1	+	19	1985	c.1900G>A	c.(1900-1902)GCC>ACC	p.A634T	ARHGAP33_uc002obs.1_Missense_Mutation_p.A634T|ARHGAP33_uc002obt.1_Missense_Mutation_p.A498T|ARHGAP33_uc010eel.2_Missense_Mutation_p.A222T|ARHGAP33_uc002obv.1_Missense_Mutation_p.A222T	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	634					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						ACTGAGATCTGCCAAGAGCGA	0.657													A	36276343	G	A	36276343	3	1	195	1	0	0	0	0	1	0	0	0	882	1319	46	2	1974	2	ARHGAP33	19	36276343	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	126813	36276343	22852640	1537	108641											
ARHGAP33	115703	broad.mit.edu	37	chr19	36277956	36277956	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgtgcagcaagctccggGgagcccagggcccactcggt	15	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:36277956G>T	uc002obr.1	+	20	2669	c.2584G>T	c.(2584-2586)GGA>TGA	p.G862*	ARHGAP33_uc002obs.1_Nonsense_Mutation_p.G701*|ARHGAP33_uc002obt.1_Nonsense_Mutation_p.G726*|ARHGAP33_uc010eel.2_Nonsense_Mutation_p.G450*|ARHGAP33_uc002obv.1_Nonsense_Mutation_p.G450*	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	862					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CAAGCTCCGGGGAGCCCAGGG	0.701													T	36277956	G	T	36277956	4	4	195	1	0	0	0	0	0	1	0	0	882	1233	43	5	2662	5	ARHGAP33	19	36277956	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1613	36277956	22851027	1538	108642											
PRODH2	58510	broad.mit.edu	37	chr19	36293120	36293120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagagacgtggtcacacaTgcccagaagttgtccgaaac	11	10	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:36293120T>C	uc002obx.1	-	10	1417	c.1399A>G	c.(1399-1401)ATG>GTG	p.M467V		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	467					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTCACACATGCCCAGAAGT	0.562													C	36293120	T	C	36293120	3	2	195	1	0	0	0	0	1	0	0	0	12549	1464	51	3	219	3	PRODH2	19	36293120	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	15164	36293120	22835863	1539	108643											
APLP1	333	broad.mit.edu	37	chr19	36369799	36369799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcccccaggtgaatgCgtctgttccaaggggtttcc	11	14	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:36369799C>T	uc002oce.2	+	15	1793	c.1655C>T	c.(1654-1656)GCG>GTG	p.A552V	APLP1_uc010xsz.1_Missense_Mutation_p.A513V|APLP1_uc002ocf.2_Missense_Mutation_p.A553V|APLP1_uc002ocg.2_Missense_Mutation_p.A456V|APLP1_uc010xta.1_Missense_Mutation_p.A546V	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	552	Extracellular (Potential).				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			ovary(2)	2	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)			CAGGTGAATGCGTCTGTTCCA	0.527													T	36369799	C	T	36369799	3	4	195	1	0	0	0	0	1	0	0	0	778	768	27	1	1716	1	APLP1	19	36369799	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	76679	36369799	22759184	1540	108644											
ZNF527	84503	broad.mit.edu	37	chr19	37871245	37871245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaccgtggatggtggAgagaaagatgtcacagggtc	17	5	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:37871245A>C	uc010efk.1	+	4	338	c.227A>C	c.(226-228)GAG>GCG	p.E76A	ZNF527_uc002ogf.3_Intron|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.E76A	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGATGGTGGAGAGAAAGATG	0.478													C	37871245	A	C	37871245	3	2	195	1	0	0	0	0	1	0	0	0	17965	304	11	5	237	5	ZNF527	19	37871245	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1501446	37871245	21257738	1541	108645											
GGN	199720	broad.mit.edu	37	chr19	38876360	38876360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggcgcagccgcgggtgcGggcgcggacacaggcggcga	21	12	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:38876360G>A	uc002oij.1	-	3	1677	c.1542C>T	c.(1540-1542)CCC>CCT	p.P514P	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P431P	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	514	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ccgcgggtgcgggcgcggaca	0.264													A	38876360	G	A	38876360	2	1	195	1	0	0	0	0	0	0	0	1	6358	1103	39	1		1	GGN	19	38876360	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1005115	38876360	20252623	1542	108646											
SAMD4B	55095	broad.mit.edu	37	chr19	39868176	39868178	+	In_Frame_Del	DEL	ATC	ATC	-													ctctgcaggagctgcagcagAtcatcatcactcccatcaag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:39868175_39868177GATC>G	uc002olb.3	+	9	2190_2192	c.1155_1157GATC>G	c.(1153-1158)cagatc>caGc	p.I388del	SAMD4B_uc002ola.3_In_Frame_Del_p.I388del	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	388							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)			AGCTGCAGCAGATCATCATCACT	0.631													-	39868178	ATC	-	39868176	7	5	195	1	0	1	0	1	0	0	0	0	13822	333	12	0	1178	0	SAMD4B	19	39868176	In_Frame_Del	DEL	ATC	TCGA-CG-5728-01A-11D-1600-08	991816	39868176	19260807	1543	108647											
SUPT5H	6829	broad.mit.edu	37	chr19	39964163	39964163	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaacacgccgtcacggTgagtccagggttccccaggt	11	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:39964163T>C	uc002olo.3	+	25	2671	c.2492_splice	c.e25+2	p.R831_splice	SUPT5H_uc002olp.3_Splice_Site_p.R831_splice|SUPT5H_uc002olq.3_Splice_Site_p.R827_splice|SUPT5H_uc002oln.3_Splice_Site_p.R831_splice|SUPT5H_uc002olr.3_Splice_Site_p.R831_splice|SUPT5H_uc002ols.1_Splice_Site_p.R454_splice	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a						cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCGTCACGGTGAGTCCAGGG	0.642													C	39964163	T	C	39964163	5	2	195	1	0	0	0	0	0	0	1	0	15396	1710	59	3	2588	3	SUPT5H	19	39964163	Splice_Site	SNP	T	TCGA-CG-5728-01A-11D-1600-08	95987	39964163	19164820	1544	108648											
C19orf47	126526	broad.mit.edu	37	chr19	40832280	40832280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggatcttgcgggtgcGgggtgtggtgcctttgggca	18	9	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:40832280G>A	uc002oni.3	-	7	665	c.664C>T	c.(664-666)CGC>TGC	p.R222C	C19orf47_uc002ong.2_Missense_Mutation_p.R81C|C19orf47_uc002onh.2_Missense_Mutation_p.R155C	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	222										ovary(1)|skin(1)	2			Lung(22;0.000636)			TTGCGGGTGCGGGGTGTGGTG	0.637													A	40832280	G	A	40832280	3	1	195	1	0	0	0	0	1	0	0	0	1930	1116	39	1	616	1	C19orf47	19	40832280	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	868117	40832280	18296703	1545	108649											
SPTBN4	57731	broad.mit.edu	37	chr19	40993644	40993644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaaccttcaccaagtgGgtgaactcgcacctcgcccg	9	14	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:40993644G>T	uc002ony.2	+	3	296	c.210G>T	c.(208-210)TGG>TGT	p.W70C	SPTBN4_uc002onx.2_Missense_Mutation_p.W70C|SPTBN4_uc002onz.2_Missense_Mutation_p.W70C	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	70	CH 1.|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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACCAAGTGGGTGAACTCGC	0.652													T	40993644	G	T	40993644	3	4	195	1	0	0	0	0	1	0	0	0	15120	1241	43	5	216	5	SPTBN4	19	40993644	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	161364	40993644	18135339	1546	108650											
SHKBP1	92799	broad.mit.edu	37	chr19	41086826	41086826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctctgcaggcggaaggCggtggctccgagataggtat	18	8	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:41086826C>T	uc002oob.2	+	9	877	c.828C>T	c.(826-828)GGC>GGT	p.G276G	SHKBP1_uc002ooc.2_Silent_p.G276G|SHKBP1_uc002ood.2_Silent_p.G276G|SHKBP1_uc010xvl.1_Silent_p.G199G|SHKBP1_uc002ooe.2_Silent_p.G113G|SHKBP1_uc002oof.2_Silent_p.G113G|SHKBP1_uc010xvm.1_Silent_p.G113G|SHKBP1_uc010xvn.1_Silent_p.G154G	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	276	WD 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCGGAAGGCGGTGGCTCCG	0.547													T	41086826	C	T	41086826	2	4	195	1	0	0	0	0	0	0	0	1	14284	755	27	1		1	SHKBP1	19	41086826	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	93182	41086826	18042157	1547	108651											
RABAC1	10567	broad.mit.edu	37	chr19	42462889	42462889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgggaggcactcacaCacagtacaggatgaggccca	14	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:42462889C>T	uc002osf.2	-	2	352	c.268G>A	c.(268-270)GTG>ATG	p.V90M		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Rab acceptor 1	90	Helical; (By similarity).					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding				0						GGCACTCACACACAGTACAGG	0.353													T	42462889	C	T	42462889	3	4	195	1	0	0	0	0	1	0	0	0	12960	492	17	4	305	4	RABAC1	19	42462889	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1376063	42462889	16666094	1548	108652											
ERF	2077	broad.mit.edu	37	chr19	42752808	42752808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcttcactccagcgccGcttaaagcgtagcttgaggg	11	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:42752808G>A	uc002ote.3	-	4	1614	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W	ERF_uc002otd.3_Missense_Mutation_p.R217W	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	486					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			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				CTCCAGCGCCGCTTAAAGCGT	0.682													A	42752808	G	A	42752808	3	1	195	1	0	0	0	0	1	0	0	0	5221	1086	38	1	194	1	ERF	19	42752808	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	289919	42752808	16376175	1549	108653											
ERF	2077	broad.mit.edu	37	chr19	42752834	42752834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtagcttgaggggcatgCactgggatgccccgggtgcc	17	11	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:42752834C>T	uc002ote.3	-	4	1588	c.1430G>A	c.(1429-1431)TGC>TAC	p.C477Y	ERF_uc002otd.3_Missense_Mutation_p.C208Y	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	477					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			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				GAGGGGCATGCACTGGGATGC	0.662													T	42752834	C	T	42752834	3	4	195	1	0	0	0	0	1	0	0	0	5221	710	25	2	220	2	ERF	19	42752834	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	26	42752834	16376149	1550	108654											
CIC	23152	broad.mit.edu	37	chr19	42795609	42795609	+	Frame_Shift_Del	DEL	C	C	-													agtctgtaccctccgccccaCcccccaaaggtgagacctgg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:42795608_42795608AC>A	uc002otf.1	+	9	2728	c.2688_2688AC>A	c.(2686-2688)ccafs	p.P896fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	896	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)				CCTCCGCCCCACCCCCCAAAG	0.607			"Mis, F, S"		oligodendroglioma								-	42795609	C	-	42795609	7	5	195	1	0	1	0	1	0	0	0	0	3424	507	18	0	2727	0	CIC	19	42795609	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	42775	42795609	16333374	1551	108655											
MEGF8	1954	broad.mit.edu	37	chr19	42848707	42848707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaccctgggctggtgcGtgcacaatgagagctgcctc	14	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:42848707G>A	uc002otl.3	+	11	2538	c.1903G>A	c.(1903-1905)GTG>ATG	p.V635M	MEGF8_uc002otm.3_Missense_Mutation_p.V176M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	675	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GGGCTGGTGCGTGCACAATGA	0.721													A	42848707	G	A	42848707	3	1	195	1	0	0	0	0	1	0	0	0	9463	1145	40	1	1945	1	MEGF8	19	42848707	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	53098	42848707	16280276	1552	108656											
LIPE	3991	broad.mit.edu	37	chr19	42914843	42914843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccggctccagccccagCgcctgctcccgtacaccggc	12	20	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:42914843C>T	uc002otr.2	-	2	1312	c.1035G>A	c.(1033-1035)GCG>GCA	p.A345A	uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.A90A	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	345					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CCAGCCCCAGCGCCTGCTCCC	0.667													T	42914843	C	T	42914843	2	4	195	1	0	0	0	0	0	0	0	1	8821	755	27	1		1	LIPE	19	42914843	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	66136	42914843	16214140	1553	108657											
IRGC	56269	broad.mit.edu	37	chr19	44223764	44223764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctctattcccagtcgtccGacggcgccatgcgggtggcc	14	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:44223764G>A	uc002oxh.2	+	2	1201	c.1054G>A	c.(1054-1056)GAC>AAC	p.D352N		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	352						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CCAGTCGTCCGACGGCGCCAT	0.657													A	44223764	G	A	44223764	3	1	195	1	0	0	0	0	1	0	0	0	7838	1058	37	1	1056	1	IRGC	19	44223764	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1308921	44223764	14905219	1554	108658											
PVR	5817	broad.mit.edu	37	chr19	45162145	45162145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttcccgtgaggtcctttGgcactgtcatctgtgtccct	10	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:45162145G>T	uc002ozm.2	+	6	1426	c.1127G>T	c.(1126-1128)TGG>TTG	p.W376L	PVR_uc010ejs.2_Missense_Mutation_p.W376L|PVR_uc010xxb.1_Intron|PVR_uc010xxc.1_Intron|PVR_uc002ozn.2_Missense_Mutation_p.W321L	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	376	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GAGGTCCTTTGGCACTGTCAT	0.338													T	45162145	G	T	45162145	3	4	195	1	0	0	0	0	1	0	0	0	12837	1357	47	5	1149	5	PVR	19	45162145	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	938381	45162145	13966838	1555	108659											
BCAM	4059	broad.mit.edu	37	chr19	45322873	45322873	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccaggctggagtggccgtCatggccgtggccgtcagcgt	16	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:45322873C>T	uc002ozu.2	+	13	1697	c.1653C>T	c.(1651-1653)GTC>GTT	p.V551V	BCAM_uc002ozt.1_Silent_p.V551V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	551	Helical; (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGTGGCCGTCATGGCCGTGG	0.692													T	45322873	C	T	45322873	2	4	195	1	0	0	0	0	0	0	0	1	1344	813	29	4		4	BCAM	19	45322873	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	160728	45322873	13806110	1556	108660											
ERCC2	2068	broad.mit.edu	37	chr19	45856040	45856040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtagacgtaggggacGccaaacatgatgacggcccg	15	9	0	3	rs16979773	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:45856040G>A	uc002pbj.2	-	20	1913	c.1866C>T	c.(1864-1866)GGC>GGT	p.G622G	ERCC2_uc002pbh.2_Silent_p.G185G|ERCC2_uc002pbi.2_Silent_p.G315G|ERCC2_uc010ejz.2_Silent_p.G544G|ERCC2_uc002pbk.2_Silent_p.G598G	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	622	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			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CGTAGGGGACGCCAAACATGA	0.617			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	45856040	G	A	45856040	2	1	195	1	0	0	0	0	0	0	0	1	5213	1074	38	1		1	ERCC2	19	45856040	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	533167	45856040	13272943	1557	108661											
PNMAL2	57469	broad.mit.edu	37	chr19	46997818	46997818	+	Frame_Shift_Del	DEL	G	G	-													tgtccaccggctcctcgtccGgggtgtctctcacagccagc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:46997817_46997817CG>C	uc002pes.2	-	0	1353	c.906_906CG>G	c.(904-906)ccgfs	p.P302fs	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	302										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)		GCTCCTCGTCCGGGGTGTCTC	0.572													-	46997818	G	-	46997818	7	5	195	1	0	1	0	1	0	0	0	0	12158	1116	39	0	1006	0	PNMAL2	19	46997818	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	1141778	46997818	12131165	1558	108662											
DHX34	9704	broad.mit.edu	37	chr19	47884149	47884150	+	Frame_Shift_Ins	INS	-	-	C													ccccagaccatcccagccacINScccccatcttcctggcctct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:47884148_47884149A>AC	uc010xyn.2	+	14	3407_3408	c.3058_3059A>AC	c.(3058-3060)accfs	p.T1020fs	DHX34_uc010xyo.1_Frame_Shift_Ins_p.T149fs	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	1020						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CATCCCAGCCACCCCCCATCTT	0.594													C	47884150	-	C	47884149	7	5	195	1	0	1	1	0	0	0	0	0	4507	507	18	0	3113	0	DHX34	19	47884149	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	886331	47884149	11244834	1559	108663											
ZNF114	163071	broad.mit.edu	37	chr19	48789060	48789060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagacgcaacccctcagcCggatattcttcctaaaagaa	6	13	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:48789060C>T	uc002pil.1	+	6	676	c.179C>T	c.(178-180)CCG>CTG	p.P60L	ZNF114_uc010elv.1_Missense_Mutation_p.P60L|ZNF114_uc002pim.1_Missense_Mutation_p.P60L|ZNF114_uc002pin.2_Missense_Mutation_p.P26L	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		ACCCCTCAGCCGGATATTCTT	0.443													T	48789060	C	T	48789060	3	4	195	1	0	0	0	0	1	0	0	0	17713	652	23	1	189	1	ZNF114	19	48789060	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	904911	48789060	10339923	1560	108664											
IZUMO1	284359	broad.mit.edu	37	chr19	49245072	49245072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaaaattgatgatcgtgGctgggctggaattcacagag	14	6	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:49245072G>A	uc002pkj.2	-	8	1276	c.728C>T	c.(727-729)GCC>GTC	p.A243V	RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1 precursor	243	Ig-like C2-type.|Extracellular (Potential).				fusion of sperm to egg plasma membrane	integral to membrane		p.A243A(1)		ovary(1)	1		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)		GATGATCGTGGCTGGGCTGGA	0.622													A	49245072	G	A	49245072	3	1	195	1	0	0	0	0	1	0	0	0	7933	1203	42	2	336	2	IZUMO1	19	49245072	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	456012	49245072	9883911	1561	108665											
SNRNP70	6625	broad.mit.edu	37	chr19	49601926	49601926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaacagaatccaagctcCggagagagtttgaggtgtac	11	9	0	3	rs11539820		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:49601926C>T	uc002pmk.2	+	6	797	c.358C>T	c.(358-360)CGG>TGG	p.R120W	SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.R120W|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	NM_003089	NP_003080	P08621	RU17_HUMAN	U1 small nuclear ribonucleoprotein 70 kDa	120	RRM.				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						ATCCAAGCTCCGGAGAGAGTT	0.502											OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	49601926	C	T	49601926	3	4	195	1	0	0	0	0	1	0	0	0	14858	643	23	1	376	1	SNRNP70	19	49601926	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	356854	49601926	9527057	1562	108666											
IL4I1	259307	broad.mit.edu	37	chr19	50392998	50393001	+	Frame_Shift_Del	DEL	CTTC	CTTC	-													gactggagggtggctgccttCttcctttgccaggtcatgcg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:50392997_50393000TCTTC>T	uc002pqv.2	-	10	2487_2490	c.1658_1661GAAGA>A	c.(1657-1662)gaagaafs	p.E553fs	IL4I1_uc002pqt.1_Frame_Shift_Del_p.E544fs|IL4I1_uc021uxy.1_Frame_Shift_Del_p.E566fs|IL4I1_uc002pqu.2_Frame_Shift_Del_p.E566fs|IL4I1_uc010eno.2_Frame_Shift_Del_p.E552fs	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	544						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)		GTGGCTGCCTTCTTCCTTTGCCAG	0.603													-	50393001	CTTC	-	50392998	7	5	195	1	0	1	0	1	0	0	0	0	7697	922	32	0	74	0	IL4I1	19	50392998	Frame_Shift_Del	DEL	CTTC	TCGA-CG-5728-01A-11D-1600-08	791072	50392998	8735985	1563	108667											
IL4I1	259307	broad.mit.edu	37	chr19	50399296	50399296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggatggggacgaggaCgaggaggtgcagggctggga	24	4	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:50399296C>T	uc002pqt.1	-	3	106	c.28G>A	c.(28-30)GTC>ATC	p.V10I	IL4I1_uc002pqv.1_Missense_Mutation_p.V19I|IL4I1_uc010eno.1_Missense_Mutation_p.V18I|IL4I1_uc002pqw.1_Missense_Mutation_p.V18I|IL4I1_uc002pqu.1_Missense_Mutation_p.V32I	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	10						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		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)		gggacgaggacgaggaggtgc	0.458													T	50399296	C	T	50399296	3	4	195	1	0	0	0	0	1	0	0	0	7697	536	19	1	1699	1	IL4I1	19	50399296	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6298	50399296	8729687	1564	108668											
NUP62	23636	broad.mit.edu	37	chr19	50412020	50412020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgctggaggaagtgccGctcctggtcctctagctcca	13	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:50412020G>A	uc002pqx.2	-	2	1149	c.1045C>T	c.(1045-1047)CGG>TGG	p.R349W	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.R349W|NUP62_uc002pqz.2_Missense_Mutation_p.R349W|NUP62_uc002pra.2_Missense_Mutation_p.R349W|NUP62_uc002prb.2_Missense_Mutation_p.R349W|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	349	Potential.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGAAGTGCCGCTCCTGGTCC	0.642													A	50412020	G	A	50412020	3	1	195	1	0	0	0	0	1	0	0	0	10768	1086	38	1	527	1	NUP62	19	50412020	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	12724	50412020	8716963	1565	108669											
MYH14	79784	broad.mit.edu	37	chr19	50735186	50735186	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactcattgtccctgcaGccgacctcctcctcgagccc	6	22	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:50735186G>A	uc002prr.1	+	9	997	c.950_splice	c.e9-1	p.A317_splice	MYH14_uc010enu.1_Splice_Site_p.A325_splice|MYH14_uc002prq.1_Splice_Site_p.A325_splice	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2						axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGTCCCTGCAGCCGACCTCCT	0.607													A	50735186	G	A	50735186	5	1	195	1	0	0	0	0	0	0	1	0	10033	985	34	2	1007	2	MYH14	19	50735186	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	323166	50735186	8393797	1566	108670											
MYBPC2	4606	broad.mit.edu	37	chr19	50951604	50951604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggtataagaatggggtcGaggtgcggcccagcaagagg	18	6	0	2	rs144074433	by1000genomes	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:50951604G>A	uc002psf.2	+	13	1480	c.1429G>A	c.(1429-1431)GAG>AAG	p.E477K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	477	Ig-like C2-type 4.				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)		GAATGGGGTCGAGGTGCGGCC	0.527													A	50951604	G	A	50951604	3	1	195	1	0	0	0	0	1	0	0	0	10012	1059	37	1	1479	1	MYBPC2	19	50951604	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	216418	50951604	8177379	1567	108671											
LRRC4B	94030	broad.mit.edu	37	chr19	51021132	51021132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgatgatctccacggtgCgcgtgggcccgtggtgcttg	16	11	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:51021132C>T	uc002pss.2	-	3	1975	c.1838G>A	c.(1837-1839)CGC>CAC	p.R613H		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	613	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCACGGTGCGCGTGGGCCC	0.706													T	51021132	C	T	51021132	3	4	195	1	0	0	0	0	1	0	0	0	9007	768	27	1	307	1	LRRC4B	19	51021132	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	69528	51021132	8107851	1568	108672											
KLK13	26085	broad.mit.edu	37	chr19	51561877	51561877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtagacttgacgacacTcctcatctgagcgaagttgg	12	10	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:51561877T>C	uc002pvn.2	-	4	606	c.563A>G	c.(562-564)GAG>GGG	p.E188G	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.E115G|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.E36G	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	188	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTGACGACACTCCTCATCTGA	0.512													C	51561877	T	C	51561877	3	2	195	1	0	0	0	0	1	0	0	0	8401	1551	54	3	278	3	KLK13	19	51561877	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	540745	51561877	7567106	1569	108673											
FPR2	2358	broad.mit.edu	37	chr19	52272775	52272775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggttaacccaacgagCtccctggccttcttcaacag	7	15	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:52272775C>T	uc002pxr.2	+	2	909	c.864C>T	c.(862-864)AGC>AGT	p.S288S	FPR2_uc002pxs.3_Silent_p.S288S|FPR2_uc010epf.2_Silent_p.S288S	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	288	Helical; Name=7; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						ACCCAACGAGCTCCCTGGCCT	0.522													T	52272775	C	T	52272775	2	4	195	1	0	0	0	0	0	0	0	1	6039	796	28	2		2	FPR2	19	52272775	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	710898	52272775	6856208	1570	108674											
ZNF616	90317	broad.mit.edu	37	chr19	52619216	52619216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctacagtgtgaattcGtcgatgcactgcaagacttg	9	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:52619216G>A	uc002pym.2	-	4	1484	c.1201C>T	c.(1201-1203)CGA>TGA	p.R401*	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	401	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTGTGAATTCGTCGATGCACT	0.423													A	52619216	G	A	52619216	4	1	195	1	0	0	0	0	0	1	0	0	18038	1153	40	1	1148	1	ZNF616	19	52619216	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	346441	52619216	6509767	1571	108675											
ZNF808	388558	broad.mit.edu	37	chr19	53050886	53050886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactacaggaacctggaggCtgtgggtgaggaaaatgtcc	15	7	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:53050886C>T	uc010epq.1	+	4	362	c.185C>T	c.(184-186)GCT>GTT	p.A62V	ZNF808_uc002pzq.2_Intron	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AACCTGGAGGCTGTGGGTGAG	0.483													T	53050886	C	T	53050886	3	4	195	1	0	0	0	0	1	0	0	0	18170	797	28	2	191	2	ZNF808	19	53050886	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	431670	53050886	6078097	1572	108676											
ZNF808	388558	broad.mit.edu	37	chr19	53067360	53067360	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagactttcaggattaagcGgtttctggccaacaaccaaa	8	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:53067360G>T	uc002pzq.2	+	4		c.3872G>T						Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808, mRNA (cDNA clone IMAGE:3542548), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGGATTAAGCGGTTTCTGGCC	0.433													T	53067360	G	T	53067360	1	4	195	0	1	0	0	0	0	0	0	0	18170	1131	39	5		5	ZNF808	19	53067360	RNA	SNP	G	TCGA-CG-5728-01A-11D-1600-08	16474	53067360	6061623	1573	108677											
ZNF600	162966	broad.mit.edu	37	chr19	53269926	53269926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggtcttgccacactcAttacacttgtaagttttctc	6	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:53269926A>G	uc002qab.3	-	3	1369	c.1083T>C	c.(1081-1083)AAT>AAC	p.N361N		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	361	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGCCACACTCATTACACTTGT	0.403													G	53269926	A	G	53269926	2	3	195	1	0	0	0	0	0	0	0	1	18027	214	8	3		3	ZNF600	19	53269926	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	202566	53269926	5859057	1574	108678											
ZNF320	162967	broad.mit.edu	37	chr19	53385079	53385079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttcatcttcttgccaCtgaaacacaaagtcatgaat	5	9	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:53385079C>T	uc002qag.2	-	4	491	c.300G>A	c.(298-300)CAG>CAA	p.Q100Q	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.Q46Q|ZNF320_uc002qai.2_Silent_p.Q100Q	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		CTTCTTGCCACTGAAACACAA	0.403													T	53385079	C	T	53385079	2	4	195	1	0	0	0	0	0	0	0	1	17836	564	20	4		4	ZNF320	19	53385079	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	115153	53385079	5743904	1575	108679											
ZNF765	91661	broad.mit.edu	37	chr19	53911017	53911017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaatagagaagtgttccAtgcagggacatctcaaagac	11	8	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:53911017A>G	uc010ydx.1	+	6	536	c.209A>G	c.(208-210)CAT>CGT	p.H70R	ZNF765_uc002qbm.2_Missense_Mutation_p.H70R|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		GAAGTGTTCCATGCAGGGACA	0.363													G	53911017	A	G	53911017	3	3	195	1	0	0	0	0	1	0	0	0	18136	217	8	3	219	3	ZNF765	19	53911017	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	525938	53911017	5217966	1576	108680											
SBK2	646643	broad.mit.edu	37	chr19	56042650	56042650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagagccccacacagaactCgtacaggaagccacggaggg	13	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:56042650C>T	uc010ygc.1	-	2	316	c.316G>A	c.(316-318)GAG>AAG	p.E106K		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	106	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0						ACACAGAACTCGTACAGGAAG	0.657													T	56042650	C	T	56042650	3	4	195	1	0	0	0	0	1	0	0	0	13861	893	31	1	737	1	SBK2	19	56042650	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2131633	56042650	3086333	1577	108681											
NLRP9	338321	broad.mit.edu	37	chr19	56249722	56249723	+	Frame_Shift_Ins	INS	-	-	A													cacaacaagccaaaatccgaINSaaaaaaagattctgccatat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:56249721_56249722G>GA	uc002qly.3	-	0	47_48	c.19_20C>TC	c.(19-21)tcgfs	p.S7fs		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	7	DAPIN.					cytoplasm	ATP binding	p.S7S(1)		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)		GCCAAAATCCGAAAAAAAAGAT	0.396													A	56249723	-	A	56249722	7	5	195	1	0	1	1	0	0	0	0	0	10484	246	9	0	2992	0	NLRP9	19	56249722	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	207072	56249722	2879261	1578	108682											
ZNF71	58491	broad.mit.edu	37	chr19	57133126	57133126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacacgggagaaaagccGtttgagtgtgacacctgtgg	13	9	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:57133126G>A	uc002qnm.3	+	3	709	c.471G>A	c.(469-471)CCG>CCA	p.P157P		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAGAAAAGCCGTTTGAGTGTG	0.587													A	57133126	G	A	57133126	2	1	195	1	0	0	0	0	0	0	0	1	18111	1132	40	1		1	ZNF71	19	57133126	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	883404	57133126	1995857	1579	108683											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189820	58189820	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccagagcagtcctccccTgagtctgcccttacccacca	6	19	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:58189820T>C	uc002qpu.2	+	5	1546	c.849T>C	c.(847-849)CCT>CCC	p.P283P		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	283					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		AGTCCTCCCCTGAGTCTGCCC	0.478													C	58189820	T	C	58189820	2	2	195	1	0	0	0	0	0	0	0	1	18234	1567	55	3		3	ZSCAN4	19	58189820	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1056694	58189820	939163	1580	108684											
ZNF551	90233	broad.mit.edu	37	chr19	58264857	58264858	+	Frame_Shift_Ins	INS	-	-	A													aatgggtttggggcatatgaINSaaaaaaattggatgacgatg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:58264856_58264857G>GA	uc002qpx.3	+	2	581_582	c.358_359G>GA	c.(358-360)gaafs	p.E120fs	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Frame_Shift_Ins_p.E120fs	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	138					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)		TGGGGCATATGAAAAAAAATTG	0.446													A	58264858	-	A	58264857	7	5	195	1	0	1	1	0	0	0	0	0	17980	246	9	0		0	ZNF551	19	58264857	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	75037	58264857	864126	1581	108685											
RPS5	6193	broad.mit.edu	37	chr19	58904820	58904820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggactgtgagacgacaggCtgtggatgtgtcccccctgc	15	12	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:58904820C>T	uc002qsn.2	+	4	485	c.413C>T	c.(412-414)GCT>GTT	p.A138V	RPS5_uc002qso.2_Missense_Mutation_p.A138V	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	138					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		AGACGACAGGCTGTGGATGTG	0.647													T	58904820	C	T	58904820	3	4	195	1	0	0	0	0	1	0	0	0	13648	797	28	2	423	2	RPS5	19	58904820	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	639963	58904820	224163	1582	108686											
ZNF324	25799	broad.mit.edu	37	chr19	58980635	58980635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagggccctgtaccgccGcgtgatgctagacaacttcg	12	14	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:58980635G>A	uc002qsw.1	+	2	177	c.83G>A	c.(82-84)CGC>CAC	p.R28H	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CTGTACCGCCGCGTGATGCTA	0.577													A	58980635	G	A	58980635	3	1	195	1	0	0	0	0	1	0	0	0	17841	1087	38	1	85	1	ZNF324	19	58980635	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	75815	58980635	148348	1583	108687											
MZF1	7593	broad.mit.edu	37	chr19	59082545	59082545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctctggacgcagccacTggcgacacagctctcggagc	12	15	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr19:59082545T>C	uc002qto.2	-	2	773	c.212A>G	c.(211-213)CAG>CGG	p.Q71R	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.Q71R|MZF1_uc010euu.1_Missense_Mutation_p.Q112R	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	71	SCAN box.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		ACGCAGCCACTGGCGACACAG	0.667													C	59082545	T	C	59082545	3	2	195	1	0	0	0	0	1	0	0	0	10108	1580	55	3	2012	3	MZF1	19	59082545	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	101910	59082545	46438	1584	108688											
DEFB126	81623	broad.mit.edu	37	chr20	126315	126315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgatggctcctaccccCgtttctcccactggttgaac	7	16	2	1	rs11467417		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:126315C>T	uc002wcx.2	+	2	336	c.318C>T	c.(316-318)CCC>CCT	p.P106P		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein	106					defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CTCCTACCCCCGTTTCTCCCA	0.388													T	126315	C	T	126315	2	4	195	1	0	0	0	0	0	0	0	1	4412	639	23	1		1	DEFB126	20	126315	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08		126315	62899205	1585	108689											
SIGLEC1	6614	broad.mit.edu	37	chr20	3669851	3669851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgaattctcgcccatgCtctgcttacaaacacgcctc	5	18	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:3669851C>T	uc002wja.2	-	20	5021	c.5021G>A	c.(5020-5022)AGC>AAC	p.S1674N	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Intron	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1674	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CTCGCCCATGCTCTGCTTACA	0.572													T	3669851	C	T	3669851	3	4	195	1	0	0	0	0	1	0	0	0	14305	797	28	2	116	2	SIGLEC1	20	3669851	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3543536	3669851	59355669	1586	108690											
MAVS	57506	broad.mit.edu	37	chr20	3846576	3846576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagggcacctttgggatcCacgtggctgagaaccccagc	13	14	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:3846576C>A	uc002wjw.3	+	7	1574	c.1405C>A	c.(1405-1407)CAC>AAC	p.H469N	MAVS_uc002wjx.3_Missense_Mutation_p.H328N|MAVS_uc002wjy.3_Missense_Mutation_p.H167N	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	469	Cytoplasmic (Probable).				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				0						CTTTGGGATCCACGTGGCTGA	0.642													A	3846576	C	A	3846576	3	1	195	1	0	0	0	0	1	0	0	0	9338	594	21	5	1427	5	MAVS	20	3846576	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	176725	3846576	59178944	1587	108691											
LRRN4	164312	broad.mit.edu	37	chr20	6021879	6021879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggtggtgaaggcggcgCacgggctcctccagcccgaa	16	13	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:6021879C>T	uc002wmo.2	-	5	2236	c.2012G>A	c.(2011-2013)TGC>TAC	p.C671Y		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	671	Extracellular (Potential).					integral to membrane				skin(3)	3						GAAGGCGGCGCACGGGCTCCT	0.711													T	6021879	C	T	6021879	3	4	195	1	0	0	0	0	1	0	0	0	9037	710	25	2	214	2	LRRN4	20	6021879	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2175303	6021879	57003641	1588	108692											
PLCB4	5332	broad.mit.edu	37	chr20	9353043	9353043	+	Frame_Shift_Del	DEL	A	A	-													cagatatagaagatcttttcAaaaaaatgtaagttccactt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:9353042_9353042CA>C	uc021wam.1	+	7	693	c.678_678CA>C	c.(676-678)ttcfs	p.F226fs	PLCB4_uc010gbw.1_Frame_Shift_Del_p.F226fs|PLCB4_uc010gbx.3_Frame_Shift_Del_p.F226fs|PLCB4_uc021wal.1_Frame_Shift_Del_p.F226fs|PLCB4_uc002wnh.3_Frame_Shift_Del_p.F73fs	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	226					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						AAGATCTTTTCAAAAAAATGT	0.313													-	9353043	A	-	9353043	7	5	195	1	0	1	0	1	0	0	0	0	12030	131	5	0	709	0	PLCB4	20	9353043	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	3331164	9353043	53672477	1589	108693											
JAG1	182	broad.mit.edu	37	chr20	10625879	10625879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgccaccgttgttgcaCgtggcctcatcacactgact	10	14	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:10625879C>T	uc002wnw.2	-	17	2655	c.2139G>A	c.(2137-2139)ACG>ACA	p.T713T	JAG1_uc010gcd.1_Silent_p.T271T	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	713	Extracellular (Potential).|EGF-like 13.				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			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CGTTGTTGCACGTGGCCTCAT	0.527									Alagille_Syndrome				T	10625879	C	T	10625879	2	4	195	1	0	0	0	0	0	0	0	1	7934	523	19	1		1	JAG1	20	10625879	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1272836	10625879	52399641	1590	108694											
JAG1	182	broad.mit.edu	37	chr20	10628735	10628735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgttctggcagggattAggctcacaataatcgatgtc	11	10	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:10628735A>G	uc002wnw.2	-	13	2109	c.1593T>C	c.(1591-1593)CCT>CCC	p.P531P	JAG1_uc010gcd.1_Silent_p.P89P	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	531	Extracellular (Potential).|EGF-like 9.				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			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GGCAGGGATTAGGCTCACAAT	0.512									Alagille_Syndrome				G	10628735	A	G	10628735	2	3	195	1	0	0	0	0	0	0	0	1	7934	407	15	3		3	JAG1	20	10628735	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	2856	10628735	52396785	1591	108695											
SPTLC3	55304	broad.mit.edu	37	chr20	13098152	13098152	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatttctccttctgccctaGcatggaaggttccatcgtgc	9	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:13098152G>A	uc002wod.1	+	8	1222	c.933_splice	c.e8-1	p.S311_splice		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base						sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	TTCTGCCCTAGCATGGAAGGT	0.473													A	13098152	G	A	13098152	5	1	195	1	0	0	0	0	0	0	1	0	15124	985	34	2	962	2	SPTLC3	20	13098152	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2469417	13098152	49927368	1592	108696											
XRN2	22803	broad.mit.edu	37	chr20	21329003	21329003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccactagaacaacttatgGgggtatttccagctgcaagt	9	9	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:21329003G>A	uc002wsf.1	+	19	1893	c.1798G>A	c.(1798-1800)GGG>AGG	p.G600R	XRN2_uc002wsg.1_Missense_Mutation_p.G524R|XRN2_uc010zsk.1_Missense_Mutation_p.G546R	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	600					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			skin(1)	1						ACAACTTATGGGGGTATTTCC	0.368													A	21329003	G	A	21329003	3	1	195	1	0	0	0	0	1	0	0	0	17457	1232	43	4	1872	4	XRN2	20	21329003	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	8230851	21329003	41696517	1593	108697											
XRN2	22803	broad.mit.edu	37	chr20	21346276	21346276	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatggacggcagtggaagcCtcagcttggctttaaccgtg	13	10	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:21346276C>G	uc002wsf.1	+	26	2485	c.2390C>G	c.(2389-2391)CCT>CGT	p.P797R	XRN2_uc002wsg.1_Missense_Mutation_p.P721R|XRN2_uc010zsk.1_Missense_Mutation_p.P743R	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	797					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			skin(1)	1						CAGTGGAAGCCTCAGCTTGGC	0.483													G	21346276	C	G	21346276	3	3	195	1	0	0	0	0	1	0	0	0	17457	681	24	5	2492	5	XRN2	20	21346276	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	17273	21346276	41679244	1594	108698											
NAPB	63908	broad.mit.edu	37	chr20	23377795	23377795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagctgcatgtggagcTtggctgcctgacaaaatgcg	13	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:23377795T>C	uc002wta.2	-	3	326	c.209A>G	c.(208-210)AAG>AGG	p.K70R	NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.K74R|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_5'Flank|NAPB_uc010zst.1_Intron	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment	70					intracellular protein transport|vesicle-mediated transport	membrane				ovary(1)	1	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CATGTGGAGCTTGGCTGCCTG	0.502													C	23377795	T	C	23377795	3	2	195	1	0	0	0	0	1	0	0	0	10162	1609	56	3	723	3	NAPB	20	23377795	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2031519	23377795	39647725	1595	108699											
CST9L	128821	broad.mit.edu	37	chr20	23545639	23545639	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgaactgagtcatccaGggcctggtgctgatggtgaa	15	8	1	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:23545639G>T	uc002wtk.3	-	3	689	c.390C>A	c.(388-390)CCC>CCA	p.P130P		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	130						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GAGTCATCCAGGGCCTGGTGC	0.552													T	23545639	G	T	23545639	2	4	195	1	0	0	0	0	0	0	0	1	3980	987	35	5		5	CST9L	20	23545639	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	167844	23545639	39479881	1596	108700											
CST4	1472	broad.mit.edu	37	chr20	23667826	23667827	+	Frame_Shift_Ins	INS	-	-	C													acgtcgaagaagtaattcacINSccccccaaaggtctgcacac					rs140501583		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:23667825_23667826A>AC	uc002wto.1	-	1	297_298	c.241_242T>GT	c.(241-243)gtgfs	p.V81fs		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													C	23667827	-	C	23667826	7	5	195	1	0	1	1	0	0	0	0	0	3974	507	18	0	192	0	CST4	20	23667826	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	122187	23667826	39357694	1597	108701											
KIF3B	9371	broad.mit.edu	37	chr20	30897800	30897800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagcagtttgaactgtacGatgagacgttccgaccactt	9	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:30897800G>A	uc002wxq.2	+	2	387	c.220G>A	c.(220-222)GAT>AAT	p.D74N	KIF3B_uc010ztv.1_Missense_Mutation_p.D74N|KIF3B_uc010ztw.1_Missense_Mutation_p.D74N	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	74	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			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGAACTGTACGATGAGACGTT	0.488													A	30897800	G	A	30897800	3	1	195	1	0	0	0	0	1	0	0	0	8301	1058	37	1	222	1	KIF3B	20	30897800	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	7229974	30897800	32127720	1598	108702											
KIF3B	9371	broad.mit.edu	37	chr20	30898711	30898711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaacggtccattggtaggagGaagaggcgagagaagcggag	18	5	0	2	rs1923098		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:30898711G>T	uc002wxq.2	+	2	1298	c.1131G>T	c.(1129-1131)AGG>AGT	p.R377S	KIF3B_uc010ztv.1_Intron|KIF3B_uc010ztw.1_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	377	Potential.				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			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGGTAGGAGGAAGAGGCGAG	0.448													T	30898711	G	T	30898711	3	4	195	1	0	0	0	0	1	0	0	0	8301	1165	41	5	1133	5	KIF3B	20	30898711	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	911	30898711	32126809	1599	108703											
NCOA6	23054	broad.mit.edu	37	chr20	33337956	33337956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgggaaagcatctgcTtgggtggggtcatcctttgg	15	9	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:33337956T>C	uc002xav.2	-	10	4613	c.2042A>G	c.(2041-2043)AAG>AGG	p.K681R	NCOA6_uc002xaw.2_Missense_Mutation_p.K681R	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	681	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						AAGCATCTGCTTGGGTGGGGT	0.567													C	33337956	T	C	33337956	3	2	195	1	0	0	0	0	1	0	0	0	10233	1609	56	3	4177	3	NCOA6	20	33337956	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2439245	33337956	29687564	1600	108704											
NCOA6	23054	broad.mit.edu	37	chr20	33345770	33345770	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgttgctgctgctgctGcagctggggaaaattagctg	14	7	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:33345770G>A	uc002xav.2	-	8	3352	c.781C>T	c.(781-783)CAG>TAG	p.Q261*	NCOA6_uc002xaw.2_Nonsense_Mutation_p.Q261*|NCOA6_uc010gew.1_Nonsense_Mutation_p.Q218*	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	261	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						tgctgctgctgcagctgGGGA	0.308													A	33345770	G	A	33345770	4	1	195	1	0	0	0	0	0	1	0	0	10233	1328	46	2	5446	2	NCOA6	20	33345770	Nonsense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	7814	33345770	29679750	1601	108705											
MYH7B	57644	broad.mit.edu	37	chr20	33584501	33584501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtgacctgaagctgaCgcaggagtcggtggctgatg	19	7	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:33584501C>T	uc002xbi.1	+	28	3424	c.3332C>T	c.(3331-3333)ACG>ATG	p.T1111M		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1069	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGAAGCTGACGCAGGAGTCG	0.622													T	33584501	C	T	33584501	3	4	195	1	0	0	0	0	1	0	0	0	10040	536	19	1	3442	1	MYH7B	20	33584501	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	238731	33584501	29441019	1602	108706											
GDF5	8200	broad.mit.edu	37	chr20	34025412	34025412	+	Frame_Shift_Del	DEL	G	G	-													ggttcagggccgcccggtctGgggggcagctttttgggttc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:34025411_34025411TG>T	uc010gfc.1	-	0	539	c.298_298CA>A	c.(298-300)agafs	p.R100fs	GDF5_uc002xck.1_Frame_Shift_Del_p.R100fs	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	100					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)			CCGCCCGGTCTGGGGGGCAGC	0.647													-	34025412	G	-	34025412	7	5	195	1	0	1	0	1	0	0	0	0	6316	1335	47	0	1216	0	GDF5	20	34025412	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	440911	34025412	29000108	1603	108707											
RBL1	5933	broad.mit.edu	37	chr20	35689589	35689589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctcacactttgggtggcTgatgcaacaggagtaatgac	13	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:35689589T>C	uc002xgi.2	-	9	1246	c.1167A>G	c.(1165-1167)TCA>TCG	p.S389S	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.S389S|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	389	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TTTGGGTGGCTGATGCAACAG	0.408													C	35689589	T	C	35689589	2	2	195	1	0	0	0	0	0	0	0	1	13109	1567	55	3		3	RBL1	20	35689589	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1664177	35689589	27335931	1604	108708											
FAM83D	81610	broad.mit.edu	37	chr20	37580194	37580194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttaagttttacatggacGgatggcaaattaaacagcag	9	6	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:37580194G>A	uc002xjg.2	+	4	920	c.879G>A	c.(877-879)ACG>ACA	p.T293T		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	263					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				TTACATGGACGGATGGCAAAT	0.398													A	37580194	G	A	37580194	2	1	195	1	0	0	0	0	0	0	0	1	5636	1103	39	1		1	FAM83D	20	37580194	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1890605	37580194	25445326	1605	108709											
DHX35	60625	broad.mit.edu	37	chr20	37639048	37639048	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggttccacttcatgtcgGtaagtcctgcctgctgtctg	10	12	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:37639048G>A	uc002xjh.2	+	13	1358	c.1347_splice	c.e13+1	p.S449_splice	DHX35_uc010zwa.1_Splice_Site_p.S294_splice|DHX35_uc010zwb.1_Splice_Site_p.S294_splice|DHX35_uc010zwc.1_Splice_Site_p.S418_splice	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35							catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CTTCATGTCGGTAAGTCCTGC	0.522													A	37639048	G	A	37639048	5	1	195	1	0	0	0	0	0	0	1	0	4508	1275	44	4	1398	4	DHX35	20	37639048	Splice_Site	SNP	G	TCGA-CG-5728-01A-11D-1600-08	58854	37639048	25386472	1606	108710											
DHX35	60625	broad.mit.edu	37	chr20	37650575	37650575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaaaccagaagtctcaCgcagtaagtcagctctgtcc	7	16	3	1	rs141540547	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:37650575C>T	uc002xjh.2	+	16	1601	c.1590C>T	c.(1588-1590)CAC>CAT	p.H530H	DHX35_uc010zwa.1_Silent_p.H375H|DHX35_uc010zwb.1_Silent_p.H375H|DHX35_uc010zwc.1_Silent_p.H499H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	530						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGAAGTCTCACGCAGTAAGTC	0.478													T	37650575	C	T	37650575	2	4	195	1	0	0	0	0	0	0	0	1	4508	535	19	1		1	DHX35	20	37650575	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	11527	37650575	25374945	1607	108711											
PTPRT	11122	broad.mit.edu	37	chr20	40944615	40944615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttctgaagtcgctcctcCttgacaaccagctgataaac	7	13	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:40944615C>A	uc002xkg.2	-	12	2071	c.1887G>T	c.(1885-1887)AAG>AAT	p.K629N	PTPRT_uc010ggj.2_Missense_Mutation_p.K629N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	629	Extracellular (Potential).|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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCGCTCCTCCTTGACAACCA	0.498													A	40944615	C	A	40944615	3	1	195	1	0	0	0	0	1	0	0	0	12812	680	24	5	2579	5	PTPRT	20	40944615	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3294040	40944615	22080905	1608	108712											
IFT52	51098	broad.mit.edu	37	chr20	42232493	42232493	+	Frame_Shift_Del	DEL	T	T	-													gatttgacaccaatattaacTttttactagaagaatatgga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:42232492_42232492CT>C	uc002xkw.3	+	3	422	c.300_300CT>C	c.(298-300)aacfs	p.N100fs	IFT52_uc010zwi.1_Intron|IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Frame_Shift_Del_p.N100fs	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	100						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)			CCAATATTAACTTTTTACTAG	0.318													-	42232493	T	-	42232493	7	5	195	1	0	1	0	1	0	0	0	0	7561	1609	56	0	311	0	IFT52	20	42232493	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	1287878	42232493	20793027	1609	108713											
SLPI	6590	broad.mit.edu	37	chr20	43881731	43881732	+	Frame_Shift_Ins	INS	-	-	G													catccatctcacagaaattgINSggggggttaagcatcaaaca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:43881730_43881731T>TG	uc002xnm.1	-	2	328_329	c.306_307A>CA	c.(304-309)cccaatfs	p.P102fs		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	102	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													G	43881732	-	G	43881731	7	5	195	1	0	1	1	0	0	0	0	0	14753	1335	47	0	100	0	SLPI	20	43881731	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1649238	43881731	19143789	1610	108714											
PIGT	51604	broad.mit.edu	37	chr20	44052984	44052984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcgctgctgaagtggaccGagtacacgccagatcctaac	13	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:44052984G>A	uc002xoh.1	+	10	1436	c.1363G>A	c.(1363-1365)GAG>AAG	p.E455K	PIGT_uc010ghf.1_Missense_Mutation_p.E408K|PIGT_uc002xoj.1_Missense_Mutation_p.E388K|PIGT_uc002xok.1_Missense_Mutation_p.E420K|PIGT_uc010zwu.1_Missense_Mutation_p.E193K|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.E193K|PIGT_uc010zww.1_Missense_Mutation_p.E399K|PIGT_uc010zwx.1_Missense_Mutation_p.E290K|PIGT_uc010zwy.1_Missense_Mutation_p.E353K|PIGT_uc010zwz.1_Missense_Mutation_p.E193K|PIGT_uc010zxa.1_Missense_Mutation_p.E293K|PIGT_uc002xol.1_Missense_Mutation_p.E244K|PIGT_uc010zxb.1_Missense_Mutation_p.E131K|PIGT_uc002xom.1_Missense_Mutation_p.E47K	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	455	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GAAGTGGACCGAGTACACGCC	0.602													A	44052984	G	A	44052984	3	1	195	1	0	0	0	0	1	0	0	0	11899	1059	37	1	1401	1	PIGT	20	44052984	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	171253	44052984	18972536	1611	108715											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506069	44506069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccttcattccattaccGggctatcctgcaggagatct	9	13	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:44506069G>A	uc002xqd.2	+	2	1075	c.872G>A	c.(871-873)CGG>CAG	p.R291Q	ZSWIM3_uc010zxg.1_Missense_Mutation_p.R285Q	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	291							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				TTCCATTACCGGGCTATCCTG	0.512													A	44506069	G	A	44506069	3	1	195	1	0	0	0	0	1	0	0	0	18239	1116	39	1	878	1	ZSWIM3	20	44506069	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	453085	44506069	18519451	1612	108716											
MMP9	4318	broad.mit.edu	37	chr20	44640898	44640898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgggcgcctctggtgcGctaccacctcgaactttgac	12	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:44640898G>A	uc002xqz.2	+	7	1139	c.1120G>A	c.(1120-1122)GCT>ACT	p.A374T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	374	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCTCTGGTGCGCTACCACCTC	0.657													A	44640898	G	A	44640898	3	1	195	1	0	0	0	0	1	0	0	0	9669	1087	38	1	1146	1	MMP9	20	44640898	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	134829	44640898	18384622	1613	108717											
EYA2	2139	broad.mit.edu	37	chr20	45811964	45811964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgcttcgagaggatAatgcagagattcggcagaaa	14	6	0	4			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:45811964A>G	uc002xsm.2	+	15	1835	c.1461A>G	c.(1459-1461)ATA>ATG	p.I487M	EYA2_uc010ghp.2_Missense_Mutation_p.I408M|EYA2_uc002xsn.2_Missense_Mutation_p.I492M|EYA2_uc002xso.2_Missense_Mutation_p.I487M|EYA2_uc002xsp.2_Missense_Mutation_p.I487M|EYA2_uc002xsq.2_Missense_Mutation_p.I457M	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	487					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			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				TCGAGAGGATAATGCAGAGAT	0.353													G	45811964	A	G	45811964	3	3	195	1	0	0	0	0	1	0	0	0	5329	352	13	3	1515	3	EYA2	20	45811964	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1171066	45811964	17213556	1614	108718											
ZMYND8	23613	broad.mit.edu	37	chr20	45891150	45891150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaactccctgcttgtccCgtcttggtggaggctggtga	13	10	1	1	rs145166978		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:45891150C>T	uc002xta.1	-	12	1697	c.1443G>A	c.(1441-1443)ACG>ACA	p.T481T	ZMYND8_uc010ghq.1_Silent_p.T158T|ZMYND8_uc010ghr.1_Silent_p.T456T|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Silent_p.T481T|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Silent_p.T233T|ZMYND8_uc002xsx.1_Silent_p.T233T|ZMYND8_uc002xsy.1_Silent_p.T456T|ZMYND8_uc002xsz.1_Silent_p.T418T|ZMYND8_uc010zxy.1_Silent_p.T508T|ZMYND8_uc002xtb.1_Silent_p.T501T|ZMYND8_uc002xss.2_Silent_p.T481T|ZMYND8_uc010zxz.1_Silent_p.T476T|ZMYND8_uc002xtc.1_Silent_p.T501T|ZMYND8_uc002xtd.1_Silent_p.T476T|ZMYND8_uc002xte.1_Silent_p.T481T|ZMYND8_uc010zya.1_Silent_p.T481T|ZMYND8_uc002xtf.1_Silent_p.T501T|ZMYND8_uc002xtg.2_Silent_p.T475T|ZMYND8_uc010ghs.1_Silent_p.T475T	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	481							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGCTTGTCCCGTCTTGGTGG	0.493													T	45891150	C	T	45891150	2	4	195	1	0	0	0	0	0	0	0	1	17708	639	23	1		1	ZMYND8	20	45891150	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	79186	45891150	17134370	1615	108719											
CSE1L	1434	broad.mit.edu	37	chr20	47691908	47691909	+	Frame_Shift_Ins	INS	-	-	T													ggtacgaggattatgcaagtINStttttgagggacctgtgaca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:47691907_47691908G>GT	uc002xty.3	+	11	1319_1320	c.1185_1186G>GT	c.(1183-1188)aagtttfs	p.K395fs	CSE1L_uc010zyg.2_Frame_Shift_Ins_p.K178fs|CSE1L_uc010ghx.3_Frame_Shift_Ins_p.K339fs|CSE1L_uc010ghy.3_Frame_Shift_Ins_p.K44fs|CSE1L_uc010zyh.2_Frame_Shift_Ins_p.K44fs	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	395					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)			GATTATGCAAGTTTTTTGAGGG	0.386													T	47691909	-	T	47691908	7	5	195	1	0	1	1	0	0	0	0	0	3930	1725	60	0	1228	0	CSE1L	20	47691908	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1800758	47691908	15333612	1616	108720											
ZFP64	55734	broad.mit.edu	37	chr20	50701307	50701307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcggaaggccctctgcGtcacgatcttggccacgtgc	12	15	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:50701307G>A	uc002xwk.2	-	9	2076	c.1727C>T	c.(1726-1728)ACG>ATG	p.T576M	ZFP64_uc002xwj.2_Missense_Mutation_p.T357M	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGCCCTCTGCGTCACGATCTT	0.617													A	50701307	G	A	50701307	3	1	195	1	0	0	0	0	1	0	0	0	17649	1145	40	1	214	1	ZFP64	20	50701307	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3009399	50701307	12324213	1617	108721											
ZFP64	55734	broad.mit.edu	37	chr20	50768705	50768705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatctggaatggagtcggCgggacagagcaaagctggat	15	7	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:50768705C>T	uc002xwl.2	-	6	2375	c.2026G>A	c.(2026-2028)GCC>ACC	p.A676T	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.A674T|ZFP64_uc002xwn.2_Missense_Mutation_p.A622T	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATGGAGTCGGCGGGACAGAGC	0.473													T	50768705	C	T	50768705	3	4	195	1	0	0	0	0	1	0	0	0	17649	768	27	1	1214	1	ZFP64	20	50768705	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	67398	50768705	12256815	1618	108722											
GNAS	2778	broad.mit.edu	37	chr20	57415346	57415346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggctgcccaacagcgccGgagcttccttaacgcccacc	10	19	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:57415346G>A	uc002xzt.2	+	1	552	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	62					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAACAGCGCCGGAGCTTCCTT	0.692			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57415346	G	A	57415346	3	1	195	1	0	0	0	0	1	0	0	0	6510	1116	39	1	187	1	GNAS	20	57415346	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6646641	57415346	5610174	1619	108723											
TAF4	6874	broad.mit.edu	37	chr20	60589624	60589624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacggtggagatctggacGggaggggcacttgtgggggt	21	5	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:60589624G>A	uc002ybs.2	-	2	1500	c.1500C>T	c.(1498-1500)CCC>CCT	p.P500P		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	500					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			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGATCTGGACGGGAGGGGCAC	0.667													A	60589624	G	A	60589624	2	1	195	1	0	0	0	0	0	0	0	1	15523	1103	39	1		1	TAF4	20	60589624	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3174278	60589624	2435896	1620	108724											
LAMA5	3911	broad.mit.edu	37	chr20	60885264	60885264	+	Frame_Shift_Del	DEL	G	G	-													gtcacctgcaactgcaagtaGgggggcgtccgggcctggcc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:60885263_60885263AG>A	uc002ycq.3	-	76	10772	c.10705_10705CT>T	c.(10705-10707)tacfs	p.Y3569fs	LAMA5_uc021wfw.1_Frame_Shift_Del_p.Y3569fs	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3569	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)	AACTGCAAGTAGGGGGGCGTC	0.652													-	60885264	G	-	60885264	7	5	195	1	0	1	0	1	0	0	0	0	8609	987	35	0	399	0	LAMA5	20	60885264	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	295640	60885264	2140256	1621	108725											
LAMA5	3911	broad.mit.edu	37	chr20	60921226	60921226	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtagcatcgacccgtcAggtcctcgcaggtgccatcc	12	15	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:60921226A>G	uc002ycq.2	-	10	1395	c.1328T>C	c.(1327-1329)CTG>CCG	p.L443P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	443	Laminin EGF-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGACCCGTCAGGTCCTCGCA	0.657													G	60921226	A	G	60921226	3	3	195	1	0	0	0	0	1	0	0	0	8609	188	7	3	10043	3	LAMA5	20	60921226	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	35962	60921226	2104294	1622	108726											
COL9A3	1299	broad.mit.edu	37	chr20	61472005	61472005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggggcccaggggacacCggggatctgcgacacctcag	15	13	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:61472005C>T	uc002ydm.2	+	32	1979	c.1976C>T	c.(1975-1977)CCG>CTG	p.P659L	COL9A3_uc002ydn.2_Missense_Mutation_p.P153L	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	659	Triple-helical region 1 (COL1).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CAGGGGACACCGGGGATCTGC	0.647													T	61472005	C	T	61472005	3	4	195	1	0	0	0	0	1	0	0	0	3709	652	23	1	2102	1	COL9A3	20	61472005	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	550779	61472005	1553515	1623	108727											
BHLHE23	128408	broad.mit.edu	37	chr20	61637673	61637673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatcttggagagcttgcGcaccgacgggctgtgcgcgt	17	11	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:61637673G>A	uc002yeb.2	-	1	715	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	136	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						GAGAGCTTGCGCACCGACGGG	0.552													A	61637673	G	A	61637673	3	1	195	1	0	0	0	0	1	0	0	0	1422	1087	38	1	275	1	BHLHE23	20	61637673	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	165668	61637673	1387847	1624	108728											
CHRNA4	1137	broad.mit.edu	37	chr20	61981656	61981656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatggactcgatgagccgCcggcaattgtccttgaccac	11	13	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:61981656C>T	uc002yes.2	-	5	1285	c.1107G>A	c.(1105-1107)CGG>CGA	p.R369R	CHRNA4_uc002yet.1_Silent_p.R193R|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.R298R|CHRNA4_uc002yev.1_Silent_p.R193R|CHRNA4_uc010gkf.1_Silent_p.R193R	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	369	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGATGAGCCGCCGGCAATTGT	0.667													T	61981656	C	T	61981656	2	4	195	1	0	0	0	0	0	0	0	1	3385	726	26	2		2	CHRNA4	20	61981656	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	343983	61981656	1043864	1625	108729											
PRPF6	24148	broad.mit.edu	37	chr20	62663288	62663288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgttttggagtcagcGgaagatcaccaaggccaggg	15	9	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:62663288G>A	uc002yho.2	+	20	2732	c.2564G>A	c.(2563-2565)CGG>CAG	p.R855Q	PRPF6_uc002yhp.2_Missense_Mutation_p.R815Q|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	855	HAT 9.				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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGGAGTCAGCGGAAGATCACC	0.577													A	62663288	G	A	62663288	3	1	195	1	0	0	0	0	1	0	0	0	12574	1116	39	1	2642	1	PRPF6	20	62663288	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	681632	62663288	362232	1626	108730											
MYT1	4661	broad.mit.edu	37	chr20	62871235	62871235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcatccaaagtctcgcCaatatccgccttccgcacat	5	18	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr20:62871235C>T	uc002yii.2	+	22	3580	c.3216C>T	c.(3214-3216)GCC>GCT	p.A1072A	MYT1_uc002yij.2_Silent_p.A731A|MYT1_uc002yik.2_Silent_p.A38A	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	1072					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGTCTCGCCAATATCCGCC	0.607													T	62871235	C	T	62871235	2	4	195	1	0	0	0	0	0	0	0	1	10106	581	21	4		4	MYT1	20	62871235	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	207947	62871235	154285	1627	108731											
TPTE	7179	broad.mit.edu	37	chr21	10969092	10969092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctttcactgataggtgaCacccgggctgctcctttaaa	8	13	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:10969092C>T	uc002yip.1	-	7	524	c.156G>A	c.(154-156)GTG>GTA	p.V52V	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	52					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		TGATAGGTGACACCCGGGCTG	0.333													T	10969092	C	T	10969092	2	4	195	1	0	0	0	0	0	0	0	1	16427	465	17	4		4	TPTE	21	10969092	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08		10969092	37160803	1628	108732											
NRIP1	8204	broad.mit.edu	37	chr21	16337566	16337566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtggaactgtacatcagtCcatttaaagaagaaatgcta	9	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:16337566C>T	uc002yjx.2	-	4	3546	c.2948G>A	c.(2947-2949)GGA>GAA	p.G983E		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	983					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				0				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)		GTACATCAGTCCATTTAAAGA	0.423													T	16337566	C	T	16337566	3	4	195	1	0	0	0	0	1	0	0	0	10652	855	30	4	532	4	NRIP1	21	16337566	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5368474	16337566	31792329	1629	108733											
NCAM2	4685	broad.mit.edu	37	chr21	22658687	22658687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttcacctgcacctgctGtcagctggttgtatcataat	9	11	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:22658687G>A	uc002yld.1	+	4	685	c.436G>A	c.(436-438)GTC>ATC	p.V146I	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.V171I	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	146	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		TGCACCTGCTGTCAGCTGGTT	0.393													A	22658687	G	A	22658687	3	1	195	1	0	0	0	0	1	0	0	0	10203	1377	48	4	450	4	NCAM2	21	22658687	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	6321121	22658687	25471208	1630	108734											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210011	28210011	+	Frame_Shift_Del	DEL	T	T	-													ggacagacacttcaagcttcTttttttgtaacccttcccac							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:28210010_28210010CT>C	uc002ymf.3	-	8	3247	c.2792_2792AG>G	c.(2791-2793)agafs	p.R931fs		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	931	TSP type-1 3.				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)		CTTCAAGCTTCTTTTTTTGTA	0.488													-	28210011	T	-	28210011	7	5	195	1	0	1	0	1	0	0	0	0	255	1617	56	0	116	0	ADAMTS1	21	28210011	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	5551324	28210011	19919884	1631	108735											
ADAMTS5	11096	broad.mit.edu	37	chr21	28337870	28337870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccccggccatacaaccGcgccatggacgcgtcagcca	11	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:28337870G>A	uc002ymg.2	-	1	1570	c.841C>T	c.(841-843)CGG>TGG	p.R281W		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	281	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CCATACAACCGCGCCATGGAC	0.682													A	28337870	G	A	28337870	3	1	195	1	0	0	0	0	1	0	0	0	269	1086	38	1	1983	1	ADAMTS5	21	28337870	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	127859	28337870	19792025	1632	108736											
USP16	10600	broad.mit.edu	37	chr21	30407165	30407165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatttttttagggctgtgGcagaaattctcaggagcagc	12	6	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:30407165G>A	uc002ymy.2	+	4	450	c.248G>A	c.(247-249)GGC>GAC	p.G83D	USP16_uc002ymx.2_Missense_Mutation_p.G83D|USP16_uc002ymw.2_Missense_Mutation_p.G83D|USP16_uc011acm.1_Missense_Mutation_p.G69D|USP16_uc011acn.1_Intron	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	83	UBP-type.				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			ovary(2)|breast(1)|pancreas(1)	4						TAGGGCTGTGGCAGAAATTCT	0.423													A	30407165	G	A	30407165	3	1	195	1	0	0	0	0	1	0	0	0	17044	1203	42	2	258	2	USP16	21	30407165	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2069295	30407165	17722730	1633	108737											
C21orf63	59271	broad.mit.edu	37	chr21	33840140	33840140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgctcctccaaggcagaGcggctcccccctttcggtat	9	16	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:33840140G>A	uc002ypr.1	+	4	1028	c.618G>A	c.(616-618)GAG>GAA	p.E206E	C21orf63_uc002ypq.1_Silent_p.E206E|C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Silent_p.E206E|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Silent_p.E111E	NM_058187	NP_478067	P58658	CU063_HUMAN	hypothetical protein LOC59271 precursor	206	SUEL-type lectin 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(2)|pancreas(1)	3						CCAAGGCAGAGCGGCTCCCCC	0.368													A	33840140	G	A	33840140	2	1	195	1	0	0	0	0	0	0	0	1	2131	962	34	2		2	C21orf63	21	33840140	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3432975	33840140	14289755	1634	108738											
IFNGR2	3460	broad.mit.edu	37	chr21	34799320	34799320	+	Frame_Shift_Del	DEL	A	A	-													ttattatgtccattactgggAaaaaggaggaatccaacagg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:34799319_34799319GA>G	uc002yrp.4	+	3	1189	c.541_541GA>G	c.(541-543)gaafs	p.E181fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	181	Fibronectin type-III 2.				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)	CCATTACTGGGAAAAAGGAGG	0.423													-	34799320	A	-	34799320	7	5	195	1	0	1	0	1	0	0	0	0	7550	246	9	0	556	0	IFNGR2	21	34799320	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	959180	34799320	13330575	1635	108739											
KCNJ6	3763	broad.mit.edu	37	chr21	38997732	38997732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggacaggtgtgaaccggTaaccccacaggatctcactg	11	12	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:38997732T>C	uc011aej.1	-	4	1054	c.1001A>G	c.(1000-1002)TAC>TGC	p.Y334C	KCNJ6_uc002ywo.2_Missense_Mutation_p.Y334C	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	334	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	TGTGAACCGGTAACCCCACAG	0.527													C	38997732	T	C	38997732	3	2	195	1	0	0	0	0	1	0	0	0	8055	1638	57	3	274	3	KCNJ6	21	38997732	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	4198412	38997732	9132163	1636	108740											
ZNF295	49854	broad.mit.edu	37	chr21	43413803	43413803	+	Frame_Shift_Del	DEL	T	T	-													tcatcatcttctacaaacacTttttttctattaggacacgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:43413802_43413802CT>C	uc021wjo.1	-	0	403	c.403_403AG>G	c.(403-405)gtgfs	p.V135fs	ZNF295_uc002yzz.4_Frame_Shift_Del_p.V135fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.V135fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.V135fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.V135fs|ZNF295_uc010gov.1_Frame_Shift_Del_p.V135fs|ZNF295_uc002zac.2_Frame_Shift_Del_p.V135fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	135					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TCTACAAACACTTTTTTTCTA	0.378													-	43413803	T	-	43413803	7	5	195	1	0	1	0	1	0	0	0	0	17824	1606	56	0	2802	0	ZNF295	21	43413803	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	4416071	43413803	4716092	1637	108741											
HSF2BP	11077	broad.mit.edu	37	chr21	45076572	45076572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagttgtcagccgttccAgatccttctttctgacttta	6	12	4	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:45076572A>G	uc002zdi.2	-	3	415	c.83T>C	c.(82-84)CTG>CCG	p.L28P	RRP1B_uc002zdk.2_5'Flank|HSF2BP_uc011aey.1_Intron	NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	28					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.18)		CAGCCGTTCCAGATCCTTCTT	0.373													G	45076572	A	G	45076572	3	3	195	1	0	0	0	0	1	0	0	0	7397	188	7	3	949	3	HSF2BP	21	45076572	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1662769	45076572	3053323	1638	108742											
AGPAT3	56894	broad.mit.edu	37	chr21	45387993	45387993	+	Frame_Shift_Del	DEL	G	G	-													tgtgagcgcttcggagtgctGggggtgagcggggacctggg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:45387992_45387992TG>T	uc002zdx.3	+	4	1270	c.605_605TG>T	c.(604-606)ctgfs	p.L202fs	AGPAT3_uc002zdv.3_Frame_Shift_Del_p.L115fs|AGPAT3_uc002zdw.3_Frame_Shift_Del_p.L115fs|AGPAT3_uc002zdy.3_Frame_Shift_Del_p.L53fs	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	115					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)		TTCGGAGTGCTGGGGGTGAGC	0.677													-	45387993	G	-	45387993	7	5	195	1	0	1	0	1	0	0	0	0	388	1335	47	0	351	0	AGPAT3	21	45387993	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	311421	45387993	2741902	1639	108743											
C21orf29	54084	broad.mit.edu	37	chr21	45947252	45947252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatgagacgaacttctcttCggtccacttgtagacggcgg	11	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:45947252C>T	uc002zfe.1	-	7	1138	c.1072G>A	c.(1072-1074)GAA>AAA	p.E358K	C21orf29_uc010gpv.1_Missense_Mutation_p.E290K	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	358	EAR 1.				cell adhesion	extracellular region	structural molecule activity				0						AACTTCTCTTCGGTCCACTTG	0.552													T	45947252	C	T	45947252	3	4	195	1	0	0	0	0	1	0	0	0	2124	893	31	1	961	1	C21orf29	21	45947252	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	559259	45947252	2182643	1640	108744											
PCNT	5116	broad.mit.edu	37	chr21	47862416	47862417	+	Frame_Shift_Ins	INS	-	-	T													cttttttttgtagattacgtINStttttggttaagaaatggca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr21:47862415_47862416G>GT	uc002zji.4	+	43	9736_9737	c.9629_9630G>GT	c.(9628-9630)cgtfs	p.R3210fs	PCNT_uc002zjj.3_Frame_Shift_Ins_p.R3013fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3210	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	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)					TGTAGATTACGTTTTTTGGTTA	0.475													T	47862417	-	T	47862416	7	5	195	1	0	1	1	0	0	0	0	0	11590	1712	60	0	9804	0	PCNT	21	47862416	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1915164	47862416	267479	1641	108745											
GAB4	128954	broad.mit.edu	37	chr22	17473042	17473042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctagtctggcccctccgcaGgataaaccagcgtttcctcc	9	16	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:17473042G>T	uc002zlw.2	-	2	307	c.199C>A	c.(199-201)CTG>ATG	p.L67M	GAB4_uc010gqs.1_Missense_Mutation_p.L67M	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	67	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCCCTCCGCAGGATAAACCAG	0.488													T	17473042	G	T	17473042	3	4	195	1	0	0	0	0	1	0	0	0	6151	991	35	5	1561	5	GAB4	22	17473042	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08		17473042	33831524	1642	108746											
TUBA8	51807	broad.mit.edu	37	chr22	18609266	18609266	+	Frame_Shift_Del	DEL	C	C	-													ggagtttgccatctacccagCcccccaggtctctactgcag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:18609265_18609265GC>G	uc002znw.1	+	2	889	c.592_592GC>G	c.(592-594)gccfs	p.A198fs	TUBA8_uc002znv.2_Frame_Shift_Del_p.A174fs|TUBA8_uc021wkt.1_Frame_Shift_Del_p.A108fs	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	174					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S198*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CATCTACCCAGCCCCCCAGGT	0.547													-	18609266	C	-	18609266	7	5	195	1	0	1	0	1	0	0	0	0	16747	739	26	0	535	0	TUBA8	22	18609266	Frame_Shift_Del	DEL	C	TCGA-CG-5728-01A-11D-1600-08	1136224	18609266	32695300	1643	108747											
DGCR14	8220	broad.mit.edu	37	chr22	19124850	19124850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaccttaaaagctgggcCgggtgtcctgtccacgtagg	12	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:19124850C>T	uc002zou.2	-	8	1058	c.1021G>A	c.(1021-1023)GGC>AGC	p.G341S	DGCR14_uc002zot.2_Missense_Mutation_p.G262S|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	341					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					AAAGCTGGGCCGGGTGTCCTG	0.607													T	19124850	C	T	19124850	3	4	195	1	0	0	0	0	1	0	0	0	4460	652	23	1	421	1	DGCR14	22	19124850	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	515584	19124850	32179716	1644	108748											
CLTCL1	8218	broad.mit.edu	37	chr22	19207438	19207438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttggtctcctcaaggaCgtgagcccagagctccggat	14	11	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:19207438C>T	uc002zpb.2	-	18	2950	c.2875G>A	c.(2875-2877)GTC>ATC	p.V959I	CLTCL1_uc011agv.1_Missense_Mutation_p.V959I|CLTCL1_uc011agw.1_Missense_Mutation_p.V959I	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	959	Proximal segment.|Heavy chain arm.				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			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TCCTCAAGGACGTGAGCCCAG	0.522			T	?	ALCL								T	19207438	C	T	19207438	3	4	195	1	0	0	0	0	1	0	0	0	3567	536	19	1	2107	1	CLTCL1	22	19207438	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	82588	19207438	32097128	1645	108749											
HIRA	7290	broad.mit.edu	37	chr22	19381879	19381879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccacgacagtcacagCtttccggtgcccaacaaagt	7	15	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:19381879C>T	uc002zpf.1	-	8	1028	c.808G>A	c.(808-810)GCT>ACT	p.A270T	HIRA_uc011agx.1_Missense_Mutation_p.A136T|HIRA_uc010grn.1_Missense_Mutation_p.A270T|HIRA_uc010gro.1_Missense_Mutation_p.A226T|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	270	WD 6.				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			ovary(1)	1	Colorectal(54;0.0993)					ACAGTCACAGCTTTCCGGTGC	0.483													T	19381879	C	T	19381879	3	4	195	1	0	0	0	0	1	0	0	0	7120	797	28	2	2317	2	HIRA	22	19381879	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	174441	19381879	31922687	1646	108750											
GNB1L	54584	broad.mit.edu	37	chr22	19808148	19808148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcgcccctggggcagcGtctgcagccaggtcacacac	14	16	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:19808148G>A	uc002zqe.1	-	3	621	c.227C>T	c.(226-228)ACG>ATG	p.T76M	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.T76M	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	76	WD 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CTGGGGCAGCGTCTGCAGCCA	0.652													A	19808148	G	A	19808148	3	1	195	1	0	0	0	0	1	0	0	0	6516	1145	40	1	776	1	GNB1L	22	19808148	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	426269	19808148	31496418	1647	108751											
ARVCF	421	broad.mit.edu	37	chr22	19960457	19960457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccgcacctggaagcgCgccttggtccaaccatcttt	11	14	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:19960457C>T	uc002zqz.2	-	15	2812	c.2541G>A	c.(2539-2541)GCG>GCA	p.A847A	ARVCF_uc002zqy.2_Silent_p.A363A	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	847					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CCTGGAAGCGCGCCTTGGTCC	0.567													T	19960457	C	T	19960457	2	4	195	1	0	0	0	0	0	0	0	1	1003	755	27	1		1	ARVCF	22	19960457	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	152309	19960457	31344109	1648	108752											
DGCR8	54487	broad.mit.edu	37	chr22	20094869	20094870	+	Frame_Shift_Ins	INS	-	-	G													cacccacatgtcaagaactgINSggggtctttactgcgcatgt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:20094868_20094869T>TG	uc002zri.3	+	11	2500_2501	c.2071_2072T>TG	c.(2071-2073)tggfs	p.W691fs	DGCR8_uc010grz.3_Frame_Shift_Ins_p.W658fs|DGCR8_uc002zrj.3_Frame_Shift_Ins_p.W334fs	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	691	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				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)					TGTCAAGAACTGGGGGTCTTTA	0.54													G	20094870	-	G	20094869	7	5	195	1	0	1	1	0	0	0	0	0	4464	1357	47	0	2114	0	DGCR8	22	20094869	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	134412	20094869	31209697	1649	108753											
MED15	51586	broad.mit.edu	37	chr22	20920907	20920907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcagccacagcctccgCcctcccaggctctgccccag	9	21	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:20920907C>T	uc002zsp.2	+	7	924	c.844C>T	c.(844-846)CCC>TCC	p.P282S	MED15_uc002zso.2_Missense_Mutation_p.P211S|MED15_uc002zsq.2_Missense_Mutation_p.P282S|MED15_uc010gso.2_Missense_Mutation_p.P282S|MED15_uc002zsr.2_Missense_Mutation_p.P256S|MED15_uc011ahs.1_Missense_Mutation_p.P256S|MED15_uc002zss.2_Missense_Mutation_p.P201S|MED15_uc011ahu.1_Missense_Mutation_p.P8S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	282	Pro-rich.			Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			ACAGCCTCCGCCCTCCCAGGC	0.512													T	20920907	C	T	20920907	3	4	195	1	0	0	0	0	1	0	0	0	9433	739	26	2	870	2	MED15	22	20920907	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	826038	20920907	30383659	1650	108754											
HIC2	23119	broad.mit.edu	37	chr22	21800421	21800421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagacagtgcgcagagcGggagcgaggggggcagcggc	22	8	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:21800421G>A	uc002zur.3	+	3	1467	c.1237G>A	c.(1237-1239)GGG>AGG	p.G413R	HIC2_uc002zus.3_Missense_Mutation_p.G413R	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	413					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGCGCAGAGCGGGAGCGAGGG	0.647													A	21800421	G	A	21800421	3	1	195	1	0	0	0	0	1	0	0	0	7102	1116	39	1	1243	1	HIC2	22	21800421	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	879514	21800421	29504145	1651	108755											
CCDC116	164592	broad.mit.edu	37	chr22	21988657	21988657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccggcaccgtgtacggcCgaccctctgcactggacacc	10	18	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:21988657C>T	uc002zve.2	+	3	512	c.419C>T	c.(418-420)CCG>CTG	p.P140L	CCDC116_uc011aih.1_Missense_Mutation_p.P140L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	140										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CGTGTACGGCCGACCCTCTGC	0.662													T	21988657	C	T	21988657	3	4	195	1	0	0	0	0	1	0	0	0	2753	652	23	1	425	1	CCDC116	22	21988657	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	188236	21988657	29315909	1652	108756											
ZNF280A	129025	broad.mit.edu	37	chr22	22868374	22868374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatctctagtgttcatAgccgtcttctttttagtttt	7	8	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:22868374A>G	uc002zwe.2	-	2	1834	c.1581T>C	c.(1579-1581)GCT>GCC	p.A527A	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		tagtgttcatagccgtcttct	0.154													G	22868374	A	G	22868374	2	3	195	1	0	0	0	0	0	0	0	1	17811	407	15	3		3	ZNF280A	22	22868374	Silent	SNP	A	TCGA-CG-5728-01A-11D-1600-08	879717	22868374	28436192	1653	108757											
BCR	613	broad.mit.edu	37	chr22	23603147	23603147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcagagtgagctggActtggaaaagggcttggaga	15	7	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:23603147A>G	uc002zww.2	+	3	2068	c.1472A>G	c.(1471-1473)GAC>GGC	p.D491G	BCR_uc002zwx.2_Missense_Mutation_p.D491G|BCR_uc011aiy.1_Missense_Mutation_p.D80G|BCR_uc010gtx.1_5'UTR|uc010gty.2_5'Flank	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	491					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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						AGTGAGCTGGACTTGGAAAAG	0.567			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								G	23603147	A	G	23603147	3	3	195	1	0	0	0	0	1	0	0	0	1388	275	10	3	1482	3	BCR	22	23603147	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	734773	23603147	27701419	1654	108758											
SEZ6L	23544	broad.mit.edu	37	chr22	26688613	26688613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccgccccaagcacgcCttgccccccaagaagaaact	9	18	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:26688613C>T	uc003acb.2	+	2	492	c.336C>T	c.(334-336)GCC>GCT	p.A112A	SEZ6L_uc003acc.2_Silent_p.A112A|SEZ6L_uc011akc.1_Silent_p.A112A|SEZ6L_uc003acd.2_Silent_p.A112A|SEZ6L_uc011akd.1_Silent_p.A112A|SEZ6L_uc003ace.2_Silent_p.A112A|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	112	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCAAGCACGCCTTGCCCCCCA	0.647													T	26688613	C	T	26688613	2	4	195	1	0	0	0	0	0	0	0	1	14143	668	24	4		4	SEZ6L	22	26688613	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3085466	26688613	24615953	1655	108759											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578651	37578651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagaagcgcttctggcaCggggcgccggggctgcccat	17	13	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:37578651C>T	uc003aqw.1	-	2	862	c.357G>A	c.(355-357)CCG>CCA	p.P119P	C1QTNF6_uc003aqx.1_Silent_p.P138P|C1QTNF6_uc003aqy.1_Silent_p.P138P|C1QTNF6_uc003aqz.1_Intron	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	119	Collagen-like.					collagen					0						GCTTCTGGCACGGGGCGCCGG	0.672													T	37578651	C	T	37578651	2	4	195	1	0	0	0	0	0	0	0	1	1967	523	19	1		1	C1QTNF6	22	37578651	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	10890038	37578651	13725915	1656	108760											
JOSD1	9929	broad.mit.edu	37	chr22	39095946	39095947	+	Frame_Shift_Ins	INS	-	-	A													tgctgcctggggcagctccaINSatgattcagatttggccttg							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:39095945_39095946C>CA	uc003awf.3	-	0	514_515	c.47_48G>TG	c.(46-48)ttgfs	p.L16fs		NM_014876	NP_055691	Q15040	JOS1_HUMAN	Homo sapiens Josephin domain containing 1 (JOSD1), mRNA.	16							peptidase activity			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					GGGGCAGCTCCAATGATTCAGA	0.505													A	39095947	-	A	39095946	7	5	195	1	0	1	1	0	0	0	0	0	7958	131	5	0	577	0	JOSD1	22	39095946	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	1517295	39095946	12208620	1657	108761											
PDGFB	5155	broad.mit.edu	37	chr22	39626130	39626130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcttcgggtcacaggcCgtgcagctgccactgtctca	13	15	2	0	rs146204796		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:39626130C>T	uc003axf.2	-	5	1549	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	PDGFB_uc003axe.2_Missense_Mutation_p.R172Q	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	187					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|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 activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	GGTCACAGGCCGTGCAGCTGC	0.617			T	COL1A1	DFSP								T	39626130	C	T	39626130	3	4	195	1	0	0	0	0	1	0	0	0	11658	652	23	1	173	1	PDGFB	22	39626130	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	530184	39626130	11678436	1658	108762											
MGAT3	4248	broad.mit.edu	37	chr22	39884756	39884756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggttcgacggcacGcagcaggagtacccgcctgc	17	13	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:39884756G>A	uc003axv.3	+	2	1643	c.1404G>A	c.(1402-1404)ACG>ACA	p.T468T	MGAT3_uc010gxy.2_Silent_p.T468T	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	468	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TCGACGGCACGCAGCAGGAGT	0.632													A	39884756	G	A	39884756	2	1	195	1	0	0	0	0	0	0	0	1	9544	1074	38	1		1	MGAT3	22	39884756	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	258626	39884756	11419810	1659	108763											
MKL1	57591	broad.mit.edu	37	chr22	40814610	40814610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccggggccacagcacaaGggtctatgtggttggtggct	16	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:40814610G>T	uc003ayv.1	-	9	2039	c.1832C>A	c.(1831-1833)CCT>CAT	p.P611H	MKL1_uc003ayw.1_Missense_Mutation_p.P611H|MKL1_uc010gye.1_Missense_Mutation_p.P611H|MKL1_uc010gyf.1_Missense_Mutation_p.P561H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	611	Pro-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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CACAGCACAAGGGTCTATGTG	0.697			T	RBM15	acute megakaryocytic leukemia								T	40814610	G	T	40814610	3	4	195	1	0	0	0	0	1	0	0	0	9601	1000	35	5	979	5	MKL1	22	40814610	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	929854	40814610	10489956	1660	108764											
TOB2	10766	broad.mit.edu	37	chr22	41832815	41832815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtggcagcgaaggaggCggtggtgaaggtgatgggct	21	4	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:41832815C>T	uc003azz.1	-	2	1242	c.535G>A	c.(535-537)GCC>ACC	p.A179T		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	179					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						GCGAAGGAGGCGGTGGTGAAG	0.637													T	41832815	C	T	41832815	3	4	195	1	0	0	0	0	1	0	0	0	16345	768	27	1	503	1	TOB2	22	41832815	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1018205	41832815	9471751	1661	108765											
TTLL1	25809	broad.mit.edu	37	chr22	43435868	43435868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccctgacggcttctcaGctcccggtcagccccgtcac	9	19	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:43435868G>T	uc003bdi.2	-	11	1427	c.1186C>A	c.(1186-1188)CTG>ATG	p.L396M	TTLL1_uc010gzh.2_Missense_Mutation_p.L367M|TTLL1_uc003bdj.2_Missense_Mutation_p.L282M|TTLL1_uc003bdh.2_Missense_Mutation_p.L358M	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	396					protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CGGCTTCTCAGCTCCCGGTCA	0.617													T	43435868	G	T	43435868	3	4	195	1	0	0	0	0	1	0	0	0	16719	962	34	5	89	5	TTLL1	22	43435868	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1603053	43435868	7868698	1662	108766											
EFCAB6	64800	broad.mit.edu	37	chr22	44011785	44011785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagctagttctgaatccGcaaccttctgttttggtctt	7	11	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:44011785G>A	uc003bdy.1	-	21	2698	c.2483C>T	c.(2482-2484)GCG>GTG	p.A828V	EFCAB6_uc003bdz.1_Missense_Mutation_p.A676V|EFCAB6_uc010gzi.1_Missense_Mutation_p.A676V|EFCAB6_uc010gzj.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	828					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCTGAATCCGCAACCTTCTG	0.368													A	44011785	G	A	44011785	3	1	195	1	0	0	0	0	1	0	0	0	4939	1087	38	1	2070	1	EFCAB6	22	44011785	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	575917	44011785	7292781	1663	108767											
PNPLA5	150379	broad.mit.edu	37	chr22	44287040	44287040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgctgggaggccaggaCgtgggcgtcggggggcagag	22	10	0	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:44287040C>T	uc003beg.2	-	2	425	c.328G>A	c.(328-330)GTC>ATC	p.V110I	PNPLA5_uc011aqc.1_5'UTR|PNPLA5_uc003beh.2_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	110	Patatin.				lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAGGCCAGGACGTGGGCGTCG	0.657													T	44287040	C	T	44287040	3	4	195	1	0	0	0	0	1	0	0	0	12168	536	19	1	993	1	PNPLA5	22	44287040	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	275255	44287040	7017526	1664	108768											
FBLN1	2192	broad.mit.edu	37	chr22	45970515	45970515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcgctgcctaccttccgcGagttcacccgccctgaaggt	9	17	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:45970515G>A	uc003bgj.1	+	15	1969	c.1822G>A	c.(1822-1824)GAG>AAG	p.E608K		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	608					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTCCGCGAGTTCACCCG	0.647													A	45970515	G	A	45970515	3	1	195	1	0	0	0	0	1	0	0	0	5698	1059	37	1	2360	1	FBLN1	22	45970515	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1683475	45970515	5334051	1665	108769											
PPARA	5465	broad.mit.edu	37	chr22	46631044	46631044	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactagatcgtcctggccttCtaaacgtaggacacattgaa	9	10	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:46631044C>A	uc003bgw.1	+	9	1440	c.1174C>A	c.(1174-1176)CTA>ATA	p.L392I	PPARA_uc003bgx.1_Missense_Mutation_p.L392I|PPARA_uc010hab.1_Missense_Mutation_p.L392I|PPARA_uc003bhb.1_Missense_Mutation_p.L392I|PPARA_uc010hac.1_Missense_Mutation_p.L189I	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	392	Ligand-binding.|Required for heterodimerization with RXRA.				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			ovary(1)|central_nervous_system(1)	2		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)	TCCTGGCCTTCTAAACGTAGG	0.448													A	46631044	C	A	46631044	3	1	195	1	0	0	0	0	1	0	0	0	12297	912	32	5	1196	5	PPARA	22	46631044	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	660529	46631044	4673522	1666	108770											
CELSR1	9620	broad.mit.edu	37	chr22	46794456	46794456	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaatccacggcgcacggagaCcttgtcttcagaggcgcctc	12	14	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:46794456C>G	uc003bhw.1	-	11	5491	c.5491G>C	c.(5491-5493)GTC>CTC	p.V1831L	CELSR1_uc011arc.1_Missense_Mutation_p.V152L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1831	Extracellular (Potential).|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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		CGCACGGAGACCTTGTCTTCA	0.692													G	46794456	C	G	46794456	3	3	195	1	0	0	0	0	1	0	0	0	3221	507	18	5	3653	5	CELSR1	22	46794456	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	163412	46794456	4510110	1667	108771											
ALG12	79087	broad.mit.edu	37	chr22	50301584	50301584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtagaagtaccacagcagCggggaggtctgcgggctggg	19	8	1	1	rs138060012		TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:50301584C>T	uc003biy.2	-	7	1051	c.777G>A	c.(775-777)CCG>CCA	p.P259P		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	259					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					0		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)		ACCACAGCAGCGGGGAGGTCT	0.657													T	50301584	C	T	50301584	2	4	195	1	0	0	0	0	0	0	0	1	514	755	27	1		1	ALG12	22	50301584	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3507128	50301584	1002982	1668	108772											
HDAC10	83933	broad.mit.edu	37	chr22	50686680	50686680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggctcttccagtgcGgggcctgggcagcacgggca	18	12	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:50686680G>T	uc003bkg.2	-	12	1428	c.1055C>A	c.(1054-1056)CCG>CAG	p.P352Q	HDAC10_uc003bke.2_Missense_Mutation_p.P78Q|HDAC10_uc003bkf.2_Missense_Mutation_p.P78Q|HDAC10_uc010hav.2_Missense_Mutation_p.P332Q|HDAC10_uc003bkh.2_Missense_Mutation_p.P145Q|HDAC10_uc003bki.2_Missense_Mutation_p.P302Q|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	352					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)				0		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)		CTTCCAGTGCGGGGCCTGGGC	0.652													T	50686680	G	T	50686680	3	4	195	1	0	0	0	0	1	0	0	0	7005	1116	39	5	990	5	HDAC10	22	50686680	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	385096	50686680	617886	1669	108773											
PLXNB2	23654	broad.mit.edu	37	chr22	50714329	50714329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctacctcgtcatagtActtctgcgtgtattggtaga	9	10	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:50714329A>G	uc003bkv.3	-	36	5507	c.5401T>C	c.(5401-5403)TAC>CAC	p.Y1801H	PLXNB2_uc003bkt.1_Missense_Mutation_p.Y593H|PLXNB2_uc003bku.1_Missense_Mutation_p.Y786H	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1801	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		TCGTCATAGTACTTCTGCGTG	0.647											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	50714329	A	G	50714329	3	3	195	1	0	0	0	0	1	0	0	0	12124	391	14	3	123	3	PLXNB2	22	50714329	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	27649	50714329	590237	1670	108774											
SBF1	6305	broad.mit.edu	37	chr22	50898727	50898728	+	Frame_Shift_Ins	INS	-	-	G													ctcgtcctcctggtcctcagINSggggcggctggccccggtgc							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chr22:50898726_50898727A>AG	uc003blh.3	-	24	3452_3453	c.3257_3258T>CT	c.(3256-3258)cctfs	p.P1086fs	SBF1_uc011arx.2_Frame_Shift_Ins_p.P750fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1086					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)		CCTGGTCCTCAGGGGGCGGCTG	0.653													G	50898728	-	G	50898727	7	5	195	1	0	1	1	0	0	0	0	0	13858	1000	35	0	2492	0	SBF1	22	50898727	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	184398	50898727	405839	1671	108775											
NLGN4X	57502	broad.mit.edu	37	chrX	5827153	5827153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggccccagcccccgagccAaagatggtcactctcttggg	12	15	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:5827153A>C	uc010ndh.2	-	4	1254	c.753T>G	c.(751-753)TTT>TTG	p.F251L	NLGN4X_uc004crp.2_Missense_Mutation_p.F271L|NLGN4X_uc004crq.2_Missense_Mutation_p.F251L|NLGN4X_uc010ndi.2_Missense_Mutation_p.F288L|NLGN4X_uc004crr.2_Missense_Mutation_p.F251L|NLGN4X_uc010ndj.2_Missense_Mutation_p.F251L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	251	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						CCCCCGAGCCAAAGATGGTCA	0.577													C	5827153	A	C	5827153	3	2	195	1	0	0	0	0	1	0	0	0	10464	127	5	5	1709	5	NLGN4X	23	5827153	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08		5827153	149443407	1672	108776											
PHKA2	5256	broad.mit.edu	37	chrX	18913264	18913264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatcgtacctctcgggTcgtcgaggatgggaggacat	13	10	2	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:18913264T>C	uc004cyv.3	-	31	3758	c.3328A>G	c.(3328-3330)ACC>GCC	p.T1110A	PHKA2_uc004cyu.3_Missense_Mutation_p.T416A|PHKA2_uc010nfe.1_Missense_Mutation_p.T142A|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1110					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					ACCTCTCGGGTCGTCGAGGAT	0.532													C	18913264	T	C	18913264	3	2	195	1	0	0	0	0	1	0	0	0	11844	1667	58	3	391	3	PHKA2	23	18913264	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	13086111	18913264	136357296	1673	108777											
ZFX	7543	broad.mit.edu	37	chrX	24225595	24225597	+	Splice_Site	DEL	AAG	AAG	-													ctggagaagatgacttaggtAagaagaagtgtttagacatt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:24225594_24225596TAAG>T	uc011mjv.2	+	6	1162	c.913_splice	c.e6+2	p.G305_splice	ZFX_uc004dbd.2_Splice_Site_p.G266_splice|ZFX_uc004dbf.3_Splice_Site_p.G266_splice|ZFX_uc004dbe.3_Splice_Site_p.G266_splice|ZFX_uc022bua.1_Splice_Site_p.G266_splice|ZFX_uc010nfx.2_Splice_Site_p.G37_splice|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_5'Flank	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATGACTTAGGTAAGAAGAAGTGT	0.389													-	24225597	AAG	-	24225595	8	5	195	1	0	1	0	1	0	0	1	0	17658	377	13	0		0	ZFX	23	24225595	Splice_Site	DEL	AAG	TCGA-CG-5728-01A-11D-1600-08	5312331	24225595	131044965	1674	108778											
ZFX	7543	broad.mit.edu	37	chrX	24229411	24229411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactatcctcaccggtgtgAgtactgcaagaaaggcttcc	10	11	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:24229411A>G	uc004dbf.2	+	9	2594	c.2336A>G	c.(2335-2337)GAG>GGG	p.E779G	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.E818G|ZFX_uc010nfz.2_Missense_Mutation_p.E435G	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	779	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						CACCGGTGTGAGTACTGCAAG	0.448													G	24229411	A	G	24229411	3	3	195	1	0	0	0	0	1	0	0	0	17658	304	11	3	2421	3	ZFX	23	24229411	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	3816	24229411	131041149	1675	108779											
MAGEB1	4112	broad.mit.edu	37	chrX	30268697	30268697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtctcaaggttgctcaCgccactgcagcagagaaaga	12	11	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:30268697C>T	uc004dcc.2	+	4	407	c.87C>T	c.(85-87)CAC>CAT	p.H29H	MAGEB1_uc004dcd.2_Silent_p.H29H|MAGEB1_uc004dce.2_Silent_p.H29H	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	29											0						AGGTTGCTCACGCCACTGCAG	0.602													T	30268697	C	T	30268697	2	4	195	1	0	0	0	0	0	0	0	1	9172	535	19	1		1	MAGEB1	23	30268697	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	6039286	30268697	125001863	1676	108780											
DMD	1756	broad.mit.edu	37	chrX	31164461	31164461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagcataggctgactgCtgtcggacctctgtagagag	15	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:31164461C>T	uc004dda.1	-	76	11112	c.10868G>A	c.(10867-10869)AGC>AAC	p.S3623N	DMD_uc004dcq.1_Missense_Mutation_p.S894N|DMD_uc004dcr.1_Missense_Mutation_p.S1043N|DMD_uc004dcs.1_Missense_Mutation_p.S1053N|DMD_uc004dct.1_Missense_Mutation_p.S1163N|DMD_uc004dcu.1_Missense_Mutation_p.S1163N|DMD_uc004dcv.1_Missense_Mutation_p.S1150N|DMD_uc004dcw.2_Missense_Mutation_p.S2279N|DMD_uc004dcx.2_Missense_Mutation_p.S2282N|DMD_uc004dcz.2_Missense_Mutation_p.S3500N|DMD_uc004dcy.1_Missense_Mutation_p.S3619N|DMD_uc004ddb.1_Missense_Mutation_p.S3615N|DMD_uc004dcm.1_Missense_Mutation_p.S555N|DMD_uc004dcn.1_Missense_Mutation_p.S542N|DMD_uc004dco.1_Missense_Mutation_p.S555N|DMD_uc004dcp.1_Missense_Mutation_p.S542N|DMD_uc011mkb.1_Missense_Mutation_p.S445N	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3623					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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				AGGCTGACTGCTGTCGGACCT	0.493													T	31164461	C	T	31164461	3	4	195	1	0	0	0	0	1	0	0	0	4580	797	28	2	291	2	DMD	23	31164461	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	895764	31164461	124106099	1677	108781											
DMD	1756	broad.mit.edu	37	chrX	32591746	32591746	+	Frame_Shift_Del	DEL	A	A	-													ttttctgaaagccatgcactAaaaaggcactgcaagacatt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:32591745_32591745TA>T	uc004dda.1	-	14	1958	c.1714_1714TA>A	c.(1714-1716)agtfs	p.S572fs	DMD_uc004dcz.2_Frame_Shift_Del_p.S449fs|DMD_uc004dcy.1_Frame_Shift_Del_p.S568fs|DMD_uc004ddb.1_Frame_Shift_Del_p.S564fs|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Frame_Shift_Del_p.S564fs|DMD_uc010ngp.1_Frame_Shift_Del_p.L91fs|DMD_uc010ngq.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	572					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)				AGCCATGCACTAAAAAGGCAC	0.338													-	32591746	A	-	32591746	7	5	195	1	0	1	0	1	0	0	0	0	4580	359	13	0	9847	0	DMD	23	32591746	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	1427285	32591746	122678814	1678	108782											
RPGR	6103	broad.mit.edu	37	chrX	38144857	38144857	+	Frame_Shift_Del	DEL	T	T	-													ttttggaacctgatggcccgTtttttaaaagtcgttttgac					rs12687163	byFrequency	TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:38144856_38144856GT>G	uc004ded.1	-	14	3564	c.3396_3396AC>C	c.(3394-3396)aacfs	p.N1132fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	0					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						CTGATGGCCCGTTTTTTAAAA	0.378													-	38144857	T	-	38144857	7	5	195	1	0	1	0	1	0	0	0	0	13548	1725	60	0	626	0	RPGR	23	38144857	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	5553111	38144857	117125703	1679	108783											
GPR82	27197	broad.mit.edu	37	chrX	41587149	41587149	+	Frame_Shift_Del	DEL	A	A	-													ttgaattatttaatagaaacAaaaaacattctcacctgtct							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:41587148_41587148CA>C	uc022bvd.1	+	0	869	c.869_869CA>C	c.(868-870)acafs	p.T290fs	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Frame_Shift_Del_p.T290fs	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	290						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TTAATAGAAACAAAAAACATT	0.308													-	41587149	A	-	41587149	7	5	195	1	0	1	0	1	0	0	0	0	6712	117	5	0	872	0	GPR82	23	41587149	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	3442292	41587149	113683411	1680	108784											
CXorf36	79742	broad.mit.edu	37	chrX	45051067	45051067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgttttccgcaggacacGctcaatgctgcaggtctttg	10	12	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:45051067G>T	uc004dgg.2	-	2	502	c.427C>A	c.(427-429)CGT>AGT	p.R143S	CXorf36_uc004dgi.3_Missense_Mutation_p.R143S	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	143						extracellular region				lung(1)	1						CGCAGGACACGCTCAATGCTG	0.557													T	45051067	G	T	45051067	3	4	195	1	0	0	0	0	1	0	0	0	4106	1087	38	5	945	5	CXorf36	23	45051067	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	3463918	45051067	110219493	1681	108785											
SLC9A7	84679	broad.mit.edu	37	chrX	46513103	46513103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacatgaggaagaacagcGccgtctccagcagggggaag	16	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:46513103G>A	uc004dgu.1	-	8	1093	c.1085C>T	c.(1084-1086)GCG>GTG	p.A362V		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	362	Helical; (Potential).				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						GAAGAACAGCGCCGTCTCCAG	0.527													A	46513103	G	A	46513103	3	1	195	1	0	0	0	0	1	0	0	0	14719	1087	38	1	1132	1	SLC9A7	23	46513103	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1462036	46513103	108757457	1682	108786											
CDK16	5127	broad.mit.edu	37	chrX	47085414	47085414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggaacatcatcaacatGcacaacgtgaaagtgggtgt	12	7	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:47085414G>A	uc004dho.2	+	8	1176	c.780G>A	c.(778-780)ATG>ATA	p.M260I	CDK16_uc011mli.1_Missense_Mutation_p.M266I|CDK16_uc011mlj.1_Missense_Mutation_p.M260I|CDK16_uc011mlk.1_Missense_Mutation_p.M260I|CDK16_uc011mll.1_Missense_Mutation_p.M334I	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	260	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						TCATCAACATGCACAACGTGA	0.542													A	47085414	G	A	47085414	3	1	195	1	0	0	0	0	1	0	0	0	3132	1319	46	2	1048	2	CDK16	23	47085414	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	572311	47085414	108185146	1683	108787											
GSPT2	23708	broad.mit.edu	37	chrX	51487865	51487866	+	Frame_Shift_Ins	INS	-	-	A													aaaaagtaggcttcagtccaINSaaaaaggacattcactttat							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:51487864_51487865C>CA	uc004dpl.3	+	0	1384_1385	c.1142_1143C>CA	c.(1141-1143)ccafs	p.P381fs		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	381					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)					GGCTTCAGTCCAAAAAAGGACA	0.391													A	51487866	-	A	51487865	7	5	195	1	0	1	1	0	0	0	0	0	6827	117	5	0	1145	0	GSPT2	23	51487865	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	4402451	51487865	103782695	1684	108788											
MAGED1	9500	broad.mit.edu	37	chrX	51638686	51638686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggccccaacagctgatAcccagacccagaatgtaaat	7	13	0	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:51638686A>G	uc004dpm.2	+	3	678	c.583A>G	c.(583-585)ACC>GCC	p.T195A	MAGED1_uc004dpn.2_Missense_Mutation_p.T251A|MAGED1_uc004dpo.2_Missense_Mutation_p.T195A	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	195					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			ovary(3)	3	Ovarian(276;0.236)					AACAGCTGATACCCAGACCCA	0.517										Multiple Myeloma(10;0.10)			G	51638686	A	G	51638686	3	3	195	1	0	0	0	0	1	0	0	0	9183	391	14	3	761	3	MAGED1	23	51638686	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	150821	51638686	103631874	1685	108789											
SSX7	280658	broad.mit.edu	37	chrX	52677309	52677309	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgaattctttcctcttAccggatgtcttgttaatctt	5	11	4	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:52677309A>G	uc004dqx.1	-	6	625	c.466_splice	c.e6+1	p.G156_splice		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					CTTTCCTCTTACCGGATGTCT	0.537													G	52677309	A	G	52677309	5	3	195	1	0	0	0	0	0	0	1	0	15208	405	14	3	106	3	SSX7	23	52677309	Splice_Site	SNP	A	TCGA-CG-5728-01A-11D-1600-08	1038623	52677309	102593251	1686	108790											
LAS1L	81887	broad.mit.edu	37	chrX	64749749	64749749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggagccaatccaggacaAagtagcagcctagagggggg	15	9	1	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:64749749A>G	uc004dwa.1	-	5	596	c.524T>C	c.(523-525)TTT>TCT	p.F175S	LAS1L_uc004dwc.1_Missense_Mutation_p.F175S|LAS1L_uc004dwd.1_Missense_Mutation_p.F133S	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	175						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						ATCCAGGACAAAGTAGCAGCC	0.572													G	64749749	A	G	64749749	3	3	195	1	0	0	0	0	1	0	0	0	8636	14	1	3	1720	3	LAS1L	23	64749749	Missense_Mutation	SNP	A	TCGA-CG-5728-01A-11D-1600-08	12072440	64749749	90520811	1687	108791											
IL2RG	3561	broad.mit.edu	37	chrX	70327614	70327614	+	Frame_Shift_Del	DEL	G	G	-													caggctttagggtgtaacatGggggggcccagtaggggcta							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:70327614delG	uc004dyw.1	-	8	1096	c.1082delC	c.(1081-1083)CCAfs	p.P361fs	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Frame_Shift_Del_p.P90fs|IL2RG_uc004dyx.1_Frame_Shift_Del_p.P171fs	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	361	Cytoplasmic (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGTAACATGGGGGGGCCCA	0.582									Severe_Combined_Immunodeficiency_X-linked				-	70327614	G	-	70327614	7	5	195	1	0	1	0	1	0	0	0	0	7688	1348	47	0	31	0	IL2RG	23	70327614	Frame_Shift_Del	DEL	G	TCGA-CG-5728-01A-11D-1600-08	5577865	70327614	84942946	1688	108792											
MAGEE1	57692	broad.mit.edu	37	chrX	75650564	75650564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtcaagattggagagCaaggcaaggaagctggtgca	15	7	1	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:75650564C>T	uc004ecm.1	+	1	2448	c.2241C>T	c.(2239-2241)AGC>AGT	p.S747S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	747	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GATTGGAGAGCAAGGCAAGGA	0.468													T	75650564	C	T	75650564	2	4	195	1	0	0	0	0	0	0	0	1	9185	709	25	2		2	MAGEE1	23	75650564	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	5322950	75650564	79619996	1689	108793											
PGAM4	441531	broad.mit.edu	37	chrX	77224579	77224579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggaggctgttgccaTgggctgcaatcagtacacgt	13	11	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:77224579T>C	uc004ecy.1	-	1	557	c.557A>G	c.(556-558)CAT>CGT	p.H186R	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	bisphosphoglycerate mutase 4	186		By similarity.			glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						GCTGTTGCCATGGGCTGCAAT	0.512													C	77224579	T	C	77224579	3	2	195	1	0	0	0	0	1	0	0	0	11775	1464	51	3	211	3	PGAM4	23	77224579	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	1574015	77224579	78045981	1690	108794											
CYLC1	1538	broad.mit.edu	37	chrX	83141586	83141586	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggattcataagctGctttaaagaacaactgagca	9	9	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:83141586G>T	uc004eei.1	+	5	1971	c.1950G>T	c.(1948-1950)CTG>CTT	p.L650L		NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	650	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TTCATAAGCTGCTTTAAAGAA	0.388													T	83141586	G	T	83141586	2	4	195	1	0	0	0	0	0	0	0	1	4141	1306	46	5		5	CYLC1	23	83141586	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5917007	83141586	72128974	1691	108795											
HDX	139324	broad.mit.edu	37	chrX	83724297	83724297	+	Frame_Shift_Del	DEL	T	T	-													gtaactgaaactcagtatcaTttttagtggctgttttctga							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:83724296_83724296AT>A	uc011mqv.2	-	3	682	c.435_435AT>T	c.(433-435)aatfs	p.N145fs	HDX_uc004eel.2_Frame_Shift_Del_p.N87fs|HDX_uc004eek.2_Frame_Shift_Del_p.N145fs	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	145						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						ACTCAGTATCATTTTTAGTGG	0.373													-	83724297	T	-	83724297	7	5	195	1	0	1	0	1	0	0	0	0	7026	1493	52	0	1670	0	HDX	23	83724297	Frame_Shift_Del	DEL	T	TCGA-CG-5728-01A-11D-1600-08	582711	83724297	71546263	1692	108796											
ZNF711	7552	broad.mit.edu	37	chrX	84526621	84526621	+	Frame_Shift_Del	DEL	A	A	-													ttcagacaacaaaatgagctAaaaaaacatatgaagaccca							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:84526620_84526620TA>T	uc004eeq.3	+	9	3096	c.2210_2210TA>T	c.(2209-2211)ctafs	p.L737fs	ZNF711_uc004eep.3_Frame_Shift_Del_p.L691fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.L691fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.L290fs	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	691					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						CAAAATGAGCTAAAAAAACAT	0.363													-	84526621	A	-	84526621	7	5	195	1	0	1	0	1	0	0	0	0	18113	349	13	0	2099	0	ZNF711	23	84526621	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	802324	84526621	70743939	1693	108797											
ARL13A	392509	broad.mit.edu	37	chrX	100243452	100243452	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaaggtgaatgttctaGgagaatgagagctcagaata	13	3	2	5			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:100243452G>C	uc004ego.2	+	8	946	c.830G>C	c.(829-831)AGG>ACG	p.R277T	ARL13A_uc011mrf.1_Missense_Mutation_p.R277T|ARL13A_uc010nng.2_Intron	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13 isoform a	277							GTP binding			ovary(1)	1						GAATGTTCTAGGAGAATGAGA	0.373													C	100243452	G	C	100243452	3	2	195	1	0	0	0	0	1	0	0	0	928	1000	35	5	856	5	ARL13A	23	100243452	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	15716831	100243452	55027108	1694	108798											
BHLHB9	80823	broad.mit.edu	37	chrX	102004167	102004167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagagcctaagactctgGgcaaagccatgggagatttc	12	9	2	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:102004167G>A	uc010nog.2	+	4	815	c.244G>A	c.(244-246)GGC>AGC	p.G82S	BHLHB9_uc011mrq.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrr.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrs.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrt.1_Missense_Mutation_p.G82S|BHLHB9_uc004ejo.2_Missense_Mutation_p.G82S|BHLHB9_uc011mru.1_Missense_Mutation_p.G82S|BHLHB9_uc011mrv.1_Missense_Mutation_p.G82S	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	82						cytoplasm|nucleus	binding			ovary(2)	2						TAAGACTCTGGGCAAAGCCAT	0.517													A	102004167	G	A	102004167	3	1	195	1	0	0	0	0	1	0	0	0	1420	1232	43	4	246	4	BHLHB9	23	102004167	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	1760715	102004167	53266393	1695	108799											
ZBTB33	10009	broad.mit.edu	37	chrX	119389225	119389226	+	Frame_Shift_Ins	INS	-	-	T													cagcaggaaaatgattcaatINSttttaaacaaaatgtaacag							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:119389224_119389225A>AT	uc022cdm.1	+	0	1954_1955	c.1954_1955A>AT	c.(1954-1956)attfs	p.I652fs	ZBTB33_uc010nqm.1_Frame_Shift_Ins_p.I652fs|ZBTB33_uc004esn.1_Frame_Shift_Ins_p.I652fs	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	652	Interaction with CTNND1 (By similarity).				Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAATGATTCAATTTTTAAACAA	0.351													T	119389226	-	T	119389225	7	5	195	1	0	1	1	0	0	0	0	0	17533	1493	52	0	1957	0	ZBTB33	23	119389225	Frame_Shift_Ins	INS	-	TCGA-CG-5728-01A-11D-1600-08	17385058	119389225	35881335	1696	108800											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760722	119760722	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actttaacattttcagaactGaagaactctgctttgtcaca	5	9	3	3			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:119760722G>A	uc004esy.2	-	3	647	c.300C>T	c.(298-300)TTC>TTT	p.F100F	C1GALT1C1_uc004esz.2_Silent_p.F100F	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	100	Lumenal (Potential).					integral to membrane					0						TTTCAGAACTGAAGAACTCTG	0.358													A	119760722	G	A	119760722	2	1	195	1	0	0	0	0	0	0	0	1	1953	1281	45	4		4	C1GALT1C1	23	119760722	Silent	SNP	G	TCGA-CG-5728-01A-11D-1600-08	371497	119760722	35509838	1697	108801											
THOC2	57187	broad.mit.edu	37	chrX	122759791	122759791	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagaagtgtggaaaaaTttggagttttctgttgatgt	12	2	1	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:122759791T>A	uc004etu.2	-	25	3061	c.3029A>T	c.(3028-3030)AAT>ATT	p.N1010I	THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1010					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TGTGGAAAAATTTGGAGTTTT	0.313													A	122759791	T	A	122759791	3	1	195	1	0	0	0	0	1	0	0	0	15862	1493	52	5	1808	5	THOC2	23	122759791	Missense_Mutation	SNP	T	TCGA-CG-5728-01A-11D-1600-08	2999069	122759791	32510769	1698	108802											
ODZ1	10178	broad.mit.edu	37	chrX	123695633	123695633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattttgatccagggtacaTcgtccatttccaaagcagag	8	11	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:123695633T>C	uc004euj.2	-	14	2386	c.2322A>G	c.(2320-2322)CGA>CGG	p.R774R	ODZ1_uc011muj.1_Silent_p.R773R|ODZ1_uc010nqy.2_Silent_p.R774R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	774	EGF-like 8.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CCAGGGTACATCGTCCATTTC	0.478													C	123695633	T	C	123695633	2	2	195	1	0	0	0	0	0	0	0	1	10834	1422	50	3		3	ODZ1	23	123695633	Silent	SNP	T	TCGA-CG-5728-01A-11D-1600-08	935842	123695633	31574927	1699	108803											
XPNPEP2	7512	broad.mit.edu	37	chrX	128896746	128896746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtagaagcaaagaccaaGgtaaactgccaccaggatgg	13	8	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:128896746G>T	uc004eut.1	+	19	1984	c.1740G>T	c.(1738-1740)AAG>AAT	p.K580N		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	580					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						CAAAGACCAAGGTAAACTGCC	0.527													T	128896746	G	T	128896746	3	4	195	1	0	0	0	0	1	0	0	0	17440	1014	35	5	1814	5	XPNPEP2	23	128896746	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	5201113	128896746	26373814	1700	108804											
AIFM1	9131	broad.mit.edu	37	chrX	129272624	129272624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcccccaccgataatcGtaattgatttgacttcccgt	8	12	0	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:129272624G>A	uc004evg.2	-	9	1089	c.911C>T	c.(910-912)ACG>ATG	p.T304M	AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Missense_Mutation_p.T304M|AIFM1_uc004evh.2_Missense_Mutation_p.T300M|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_RNA	NM_004208	NP_004199	O95831	AIFM1_HUMAN	programmed cell death 8 isoform 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			ovary(4)|central_nervous_system(1)	5						ACCGATAATCGTAATTGATTT	0.438													A	129272624	G	A	129272624	3	1	195	1	0	0	0	0	1	0	0	0	426	1145	40	1	974	1	AIFM1	23	129272624	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	375878	129272624	25997936	1701	108805											
USP26	83844	broad.mit.edu	37	chrX	132161368	132161368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaattggggaggccgtggCatattttctctggaaataat	11	7	1	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:132161368C>T	uc010nrm.1	-	6	1351	c.881G>A	c.(880-882)TGC>TAC	p.C294Y	USP26_uc011mvf.1_Missense_Mutation_p.C294Y	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	294					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GAGGCCGTGGCATATTTTCTC	0.353													T	132161368	C	T	132161368	3	4	195	1	0	0	0	0	1	0	0	0	17054	710	25	2	1863	2	USP26	23	132161368	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	2888744	132161368	23109192	1702	108806											
FAM127A	8933	broad.mit.edu	37	chrX	134166475	134166475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgatccggcctgcgacgcGtcgctggaggaacccgattc	14	15	0	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:134166475G>A	uc004eyd.2	+	1	143	c.62G>A	c.(61-63)CGT>CAT	p.R21H	uc004eye.1_RNA	NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	21											0	Acute lymphoblastic leukemia(192;0.000127)					CCTGCGACGCGTCGCTGGAGG	0.637													A	134166475	G	A	134166475	3	1	195	1	0	0	0	0	1	0	0	0	5431	1145	40	1	64	1	FAM127A	23	134166475	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	2005107	134166475	21104085	1703	108807											
ZNF449	203523	broad.mit.edu	37	chrX	134494414	134494414	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggagagaaacctcacCgatgtcctcagtgtggaaaa	11	10	2	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:134494414C>T	uc004eys.2	+	5	1135	c.970C>T	c.(970-972)CGA>TGA	p.R324*	ZNF449_uc004eyt.2_Nonsense_Mutation_p.R204*|ZNF449_uc004eyu.2_Nonsense_Mutation_p.R130*	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	324	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GAAACCTCACCGATGTCCTCA	0.483													T	134494414	C	T	134494414	4	4	195	1	0	0	0	0	0	1	0	0	17917	644	23	1	984	1	ZNF449	23	134494414	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	327939	134494414	20776146	1704	108808											
GPR112	139378	broad.mit.edu	37	chrX	135494507	135494507	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctgctgtgggtggttgCgattggataactcttctggt	13	8	3	0			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:135494507C>T	uc004ezu.1	+	24	9310	c.9019C>T	c.(9019-9021)CGA>TGA	p.R3007*	GPR112_uc010nsb.1_Nonsense_Mutation_p.R2802*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	3007	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGGGTGGTTGCGATTGGATAA	0.398													T	135494507	C	T	135494507	4	4	195	1	0	0	0	0	0	1	0	0	6629	760	27	1	9101	1	GPR112	23	135494507	Nonsense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	1000093	135494507	19776053	1705	108809											
AFF2	2334	broad.mit.edu	37	chrX	148037970	148037970	+	Frame_Shift_Del	DEL	A	A	-													tgcgagatcatgagaacctgAaaaacctctgggtgaagatt							TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:148037969_148037969GA>G	uc004fcp.3	+	10	2873	c.2394_2394GA>G	c.(2392-2394)ctgfs	p.L798fs	AFF2_uc004fcq.3_Frame_Shift_Del_p.L788fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.L759fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.L763fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.L765fs|AFF2_uc011mxc.2_Frame_Shift_Del_p.L439fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	798					RNA splicing|brain development|mRNA processing|regulation of 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)					ATGAGAACCTGAAAAACCTCT	0.478													-	148037970	A	-	148037970	7	5	195	1	0	1	0	1	0	0	0	0	357	247	9	0	2492	0	AFF2	23	148037970	Frame_Shift_Del	DEL	A	TCGA-CG-5728-01A-11D-1600-08	12543463	148037970	7232590	1706	108810											
GABRA3	2556	broad.mit.edu	37	chrX	151366116	151366116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactcaccaaagactgtaCgggcaggaacagactctctg	9	12	3	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:151366116C>T	uc010ntk.1	-	8	1160	c.920G>A	c.(919-921)CGT>CAT	p.R307H		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	307	Helical; (Probable).				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			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGACTGTACGGGCAGGAAC	0.463													T	151366116	C	T	151366116	3	4	195	1	0	0	0	0	1	0	0	0	6162	536	19	1	570	1	GABRA3	23	151366116	Missense_Mutation	SNP	C	TCGA-CG-5728-01A-11D-1600-08	3328146	151366116	3904444	1707	108811											
PNMA3	29944	broad.mit.edu	37	chrX	152226635	152226635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgaggctcaagaaaacGgaaacgccacacattctgct	8	13	3	1			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:152226635G>A	uc004fhc.2	+	2	1559	c.1223G>A	c.(1222-1224)CGG>CAG	p.R408Q	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	408	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGAAAACGGAAACGCCAC	0.582													A	152226635	G	A	152226635	3	1	195	1	0	0	0	0	1	0	0	0	12155	1116	39	1	1225	1	PNMA3	23	152226635	Missense_Mutation	SNP	G	TCGA-CG-5728-01A-11D-1600-08	860519	152226635	3043925	1708	108812											
HAUS7	55559	broad.mit.edu	37	chrX	152721027	152721027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaagtcagattctggtgCgtggcctggatgatggggcc	17	7	2	2			TCGA-CG-5728-01A-11D-1600-08	TCGA-CG-5728-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49bb40de-9ebf-441a-b9e1-0916ed9db4b0	173dbb7e-7f46-4581-aaf6-7f5b7f734788	g.chrX:152721027C>T	uc004fho.1	-	8	1491	c.933G>A	c.(931-933)ACG>ACA	p.T311T	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Silent_p.T311T|HAUS7_uc004fhp.1_RNA	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	311					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						GATTCTGGTGCGTGGCCTGGA	0.602													T	152721027	C	T	152721027	2	4	195	1	0	0	0	0	0	0	0	1	6971	755	27	1		1	HAUS7	23	152721027	Silent	SNP	C	TCGA-CG-5728-01A-11D-1600-08	494392	152721027	2549533	1709	108813											
USP48	84196	broad.mit.edu	37	chr1	22032676	22032676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgatgtagaggacatccGtatcctagaacacaaaaatc	7	10	0	2	rs150117994		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:22032676G>A	uc001bfb.2	-	18	2454	c.2216C>T	c.(2215-2217)ACG>ATG	p.T739M	USP48_uc001bfa.2_Missense_Mutation_p.T277M|USP48_uc010odq.1_Missense_Mutation_p.T751M|USP48_uc009vqc.2_Missense_Mutation_p.T673M|USP48_uc001bfc.2_Missense_Mutation_p.T739M|USP48_uc001bfd.1_5'Flank	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	739	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		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)		GAGGACATCCGTATCCTAGAA	0.338													A	22032676	G	A	22032676	3	1	196	1	0	0	0	0	1	0	0	0	17076	1145	40	1	931	1	USP48	1	22032676	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		22032676	227217945	1	108814											
ZDHHC18	84243	broad.mit.edu	37	chr1	27176839	27176839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaactgtgtggggagaCggaactatcgcttcttctac	13	9	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:27176839C>T	uc001bnb.2	+	4	789	c.694C>T	c.(694-696)CGG>TGG	p.R232W	ZDHHC18_uc010ofh.1_Missense_Mutation_p.R97W	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	232	DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|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)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TGTGGGGAGACGGAACTATCG	0.577													T	27176839	C	T	27176839	3	4	196	1	0	0	0	0	1	0	0	0	17605	527	19	1	708	1	ZDHHC18	1	27176839	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	5144163	27176839	222073782	2	108815											
GPR3	2827	broad.mit.edu	37	chr1	27721178	27721178	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccacctacaactccatgatCaaccctatcatctacgcctt	3	17	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:27721178C>T	uc001bod.2	+	2	971	c.876C>T	c.(874-876)ATC>ATT	p.I292I		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	292	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		ACTCCATGATCAACCCTATCA	0.557													T	27721178	C	T	27721178	2	4	196	1	0	0	0	0	0	0	0	1	6686	816	29	4		4	GPR3	1	27721178	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	544339	27721178	221529443	3	108816											
CSMD2	114784	broad.mit.edu	37	chr1	34238227	34238227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttggcatgtgattgcctTctgtcccaccagctcaaagg	9	12	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:34238227T>C	uc001bxn.1	-	13	1698	c.1669A>G	c.(1669-1671)AAG>GAG	p.K557E	CSMD2_uc001bxm.1_Missense_Mutation_p.K597E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	557	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATTGCCTTCTGTCCCACC	0.572													C	34238227	T	C	34238227	3	2	196	1	0	0	0	0	1	0	0	0	3945	1792	62	3	9022	3	CSMD2	1	34238227	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	6517049	34238227	215012394	4	108817											
INPP5B	3633	broad.mit.edu	37	chr1	38351367	38351367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggctgacaaaactgcattCgagaacaaatgtccttatag	8	9	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:38351367C>T	uc001ccg.1	-	13	1356	c.1262G>A	c.(1261-1263)CGA>CAA	p.R421Q	INPP5B_uc009vvk.1_Missense_Mutation_p.R362Q|INPP5B_uc001ccf.1_Missense_Mutation_p.R257Q|INPP5B_uc010oij.1_Intron	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	501					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			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAACTGCATTCGAGAACAAAT	0.507													T	38351367	C	T	38351367	3	4	196	1	0	0	0	0	1	0	0	0	7755	884	31	1	1527	1	INPP5B	1	38351367	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	4113140	38351367	210899254	5	108818											
HIVEP3	59269	broad.mit.edu	37	chr1	42050416	42050416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttggtcagccgcttcCggggacttccctcagccttc	9	17	2	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:42050416C>T	uc001cgz.3	-	4	1266	c.53G>A	c.(52-54)CGG>CAG	p.R18Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R18Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	18					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGCCGCTTCCGGGGACTTCC	0.582													T	42050416	C	T	42050416	3	4	196	1	0	0	0	0	1	0	0	0	7188	652	23	1	7191	1	HIVEP3	1	42050416	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	3699049	42050416	207200205	6	108819											
SLC2A1	6513	broad.mit.edu	37	chr1	43393459	43393459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggccacgatgctcagataGgacatccagggtagctgctc	12	11	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:43393459G>T	uc001cik.2	-	9	1620	c.1095C>A	c.(1093-1095)TCC>TCA	p.S365S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	365	Extracellular (Potential).				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			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCTCAGATAGGACATCCAGG	0.547													T	43393459	G	T	43393459	2	4	196	1	0	0	0	0	0	0	0	1	14538	987	35	5		5	SLC2A1	1	43393459	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	1343043	43393459	205857162	7	108820											
C1orf168	199920	broad.mit.edu	37	chr1	57257958	57257958	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttcctctggagtaagCcccatgcctttttgcccttc	9	14	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:57257958C>A	uc001cym.3	-	2	934	c.528G>T	c.(526-528)GGG>GGT	p.G176G	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.G176G	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	176										ovary(3)|skin(2)	5						CTGGAGTAAGCCCCATGCCTT	0.488													A	57257958	C	A	57257958	2	1	196	1	0	0	0	0	0	0	0	1	2012	726	26	5		5	C1orf168	1	57257958	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	13864499	57257958	191992663	8	108821											
CELSR2	1952	broad.mit.edu	37	chr1	109801247	109801247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgtggtggtcttcaaCgtacagcgggacaccgacgc	13	13	2	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:109801247C>T	uc001dxa.3	+	2	3565	c.3504C>T	c.(3502-3504)AAC>AAT	p.N1168N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1168	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		TGGTCTTCAACGTACAGCGGG	0.607													T	109801247	C	T	109801247	2	4	196	1	0	0	0	0	0	0	0	1	3222	535	19	1		1	CELSR2	1	109801247	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	52543289	109801247	139449374	9	108822											
SPAG17	200162	broad.mit.edu	37	chr1	118566057	118566057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataagacctgaattgggactCctgctcacagcaccatctgc	8	13	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:118566057C>T	uc001ehk.2	-	28	4007	c.3939G>A	c.(3937-3939)AGG>AGA	p.R1313R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1313						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		AATTGGGACTCCTGCTCACAG	0.423													T	118566057	C	T	118566057	2	4	196	1	0	0	0	0	0	0	0	1	14979	854	30	4		4	SPAG17	1	118566057	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	8764810	118566057	130684564	10	108823											
POLR3C	10623	broad.mit.edu	37	chr1	145608249	145608249	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgtgtctgccagtcGcacaaatgtgtttgatactt	10	7	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:145608249G>A	uc001eoh.2	-	4	609	c.448C>T	c.(448-450)CGA>TGA	p.R150*	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Nonsense_Mutation_p.R163*|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Nonsense_Mutation_p.R150*	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	150					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTGCCAGTCGCACAAATGTG	0.498													A	145608249	G	A	145608249	4	1	196	1	0	0	0	0	0	1	0	0	12230	1095	38	1	1204	1	POLR3C	1	145608249	Nonsense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	27042192	145608249	103642372	11	108824											
SF3B4	10262	broad.mit.edu	37	chr1	149895490	149895490	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggaactggtggccggggagTgggtctgggtggagggagag	25	4	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:149895490T>A	uc001etj.1	-	6	1270	c.1219A>T	c.(1219-1221)ACT>TCT	p.T407S	SF3B4_uc001eti.1_Missense_Mutation_p.T171S|SF3B4_uc001etk.1_Missense_Mutation_p.T407S	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	407						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|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)			GGCCGGGGAGTGGGTCTGGGT	0.602													A	149895490	T	A	149895490	3	1	196	1	0	0	0	0	1	0	0	0	14153	1696	59	5	59	5	SF3B4	1	149895490	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	4287241	149895490	99355131	12	108825											
FLG	2312	broad.mit.edu	37	chr1	152277533	152277533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggaagtctctgcgtgacGagtgcctgattgtctggagc	15	8	2	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:152277533G>A	uc001ezu.1	-	3	9865	c.9829C>T	c.(9829-9831)CGT>TGT	p.R3277C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3277	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCGTGACGAGTGCCTGAT	0.602									Ichthyosis				A	152277533	G	A	152277533	3	1	196	1	0	0	0	0	1	0	0	0	5922	1058	37	1	2360	1	FLG	1	152277533	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2382043	152277533	96973088	13	108826											
ADAM15	8751	broad.mit.edu	37	chr1	155028289	155028289	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggatgtggtaacagagacCaagactgtggagttggtgat	16	5	0	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:155028289C>G	uc001fgr.1	+	7	737	c.636C>G	c.(634-636)ACC>ACG	p.T212T	ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_RNA|ADAM15_uc010pet.1_Silent_p.T196T|ADAM15_uc010peu.1_Silent_p.T229T|ADAM15_uc001fgt.1_Silent_p.T212T|ADAM15_uc010pev.1_Silent_p.T222T|ADAM15_uc001fgs.1_Silent_p.T212T|ADAM15_uc001fgu.1_Silent_p.T212T|ADAM15_uc001fgw.1_Silent_p.T212T|ADAM15_uc001fgv.1_Silent_p.T212T|ADAM15_uc001fgx.1_Silent_p.T212T|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	212	Extracellular (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	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)			TAACAGAGACCAAGACTGTGG	0.592													G	155028289	C	G	155028289	2	3	196	1	0	0	0	0	0	0	0	1	237	581	21	5		5	ADAM15	1	155028289	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2750756	155028289	94222332	14	108827											
ATP1A2	477	broad.mit.edu	37	chr1	160105320	160105320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatctctggctctgacGtctctaagcaggcagccgac	12	13	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:160105320G>A	uc001fvc.2	+	16	2344	c.2212G>A	c.(2212-2214)GTC>ATC	p.V738I	ATP1A2_uc001fvb.2_Missense_Mutation_p.V738I|ATP1A2_uc001fvd.2_Missense_Mutation_p.V474I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	738	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			TGGCTCTGACGTCTCTAAGCA	0.597													A	160105320	G	A	160105320	3	1	196	1	0	0	0	0	1	0	0	0	1129	1145	40	1	2274	1	ATP1A2	1	160105320	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	5077031	160105320	89145301	15	108828											
SLAMF1	6504	broad.mit.edu	37	chr1	160607204	160607204	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagtgattttgccattgtGacgacaatgtggatgctttt	10	7	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:160607204G>A	uc001fwl.3	-	2	538	c.192C>T	c.(190-192)GTC>GTT	p.V64V	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Silent_p.V64V	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	64	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTGCCATTGTGACGACAATGT	0.463													A	160607204	G	A	160607204	2	1	196	1	0	0	0	0	0	0	0	1	14367	1277	45	4		4	SLAMF1	1	160607204	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	501884	160607204	88643417	16	108829											
OLFML2B	25903	broad.mit.edu	37	chr1	161954658	161954658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagtaatagttggttacGtaaatccgctcatccttggc	9	10	1	0	rs138789156	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:161954658G>A	uc001gbu.2	-	7	2011	c.1587C>T	c.(1585-1587)TAC>TAT	p.Y529Y	OLFML2B_uc001gbt.2_Silent_p.Y12Y|OLFML2B_uc010pkq.1_Silent_p.Y530Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	529	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AGTTGGTTACGTAAATCCGCT	0.527													A	161954658	G	A	161954658	2	1	196	1	0	0	0	0	0	0	0	1	10858	1140	40	1		1	OLFML2B	1	161954658	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	1347454	161954658	87295963	17	108830											
CEP350	9857	broad.mit.edu	37	chr1	180062030	180062030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataaaagaaatagagtatAcaaaattgaagaagagtaag	8	1	0	5			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:180062030A>G	uc001gnt.2	+	34	7173	c.6790A>G	c.(6790-6792)ACA>GCA	p.T2264A	CEP350_uc009wxl.2_Missense_Mutation_p.T2263A|CEP350_uc001gnv.2_Missense_Mutation_p.T399A|CEP350_uc001gnw.1_Missense_Mutation_p.T21A|CEP350_uc001gnx.1_Missense_Mutation_p.T21A	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2264						centrosome|nucleus|spindle				ovary(4)	4						AATAGAGTATACAAAATTGAA	0.313													G	180062030	A	G	180062030	3	3	196	1	0	0	0	0	1	0	0	0	3254	391	14	3	6920	3	CEP350	1	180062030	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	18107372	180062030	69188591	18	108831											
HMCN1	83872	broad.mit.edu	37	chr1	186055473	186055473	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aggtctctggttttccacctCctgacctcagctggctcaag	9	14	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:186055473C>G	uc001grq.1	+	58	9209	c.8980C>G	c.(8980-8982)CCT>GCT	p.P2994A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2994	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTTTCCACCTCCTGACCTCAG	0.418													G	186055473	C	G	186055473	3	3	196	1	0	0	0	0	1	0	0	0	7220	855	30	5	9210	5	HMCN1	1	186055473	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	5993443	186055473	63195148	19	108832											
RGS21	431704	broad.mit.edu	37	chr1	192335231	192335232	+	Frame_Shift_Ins	INS	-	-	A													ccaacaggttccaaatcataINSaaaaatggctcccttttttg							TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:192335230_192335231T>TA	uc001gsh.3	+	4	609_610	c.435_436T>TA	c.(433-438)cataaafs	p.H145fs		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	145					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTCCAAATCATAAAAAATGGCT	0.327													A	192335232	-	A	192335231	7	5	196	1	0	1	1	0	0	0	0	0	13304	363	13	0	450	0	RGS21	1	192335231	Frame_Shift_Ins	INS	-	TCGA-CG-5730-01A-11D-1600-08	6279758	192335231	56915390	20	108833											
LGTN	1939	broad.mit.edu	37	chr1	206776401	206776401	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtcttcacgtgcctggtGaacctccccattctcctctt	6	16	4	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:206776401G>A	uc001heh.2	-	6	897	c.688C>T	c.(688-690)CAC>TAC	p.H230Y	LGTN_uc009xbw.2_Intron	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	230					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CGTGCCTGGTGAACCTCCCCA	0.552													A	206776401	G	A	206776401	3	1	196	1	0	0	0	0	1	0	0	0	8760	1290	45	4	1106	4	LGTN	1	206776401	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	14441170	206776401	42474220	21	108834											
TTC13	79573	broad.mit.edu	37	chr1	231056309	231056309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taccttttccagggcttcccGaacttccagcaatcctttag	6	14	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:231056309G>A	uc001huf.3	-	17	1961	c.1930C>T	c.(1930-1932)CGG>TGG	p.R644W	TTC13_uc009xfi.2_Missense_Mutation_p.R591W|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R591W|TTC13_uc009xfk.1_Missense_Mutation_p.R534W	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	644							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGGGCTTCCCGAACTTCCAGC	0.373													A	231056309	G	A	231056309	3	1	196	1	0	0	0	0	1	0	0	0	16677	1057	37	1	680	1	TTC13	1	231056309	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	24279908	231056309	18194312	22	108835											
RYR2	6262	broad.mit.edu	37	chr1	237886549	237886549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatatagcaaatgtgctttTtcatcttgaacaggtcaggc	10	7	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:237886549T>C	uc001hyl.1	+	74	10796	c.10676T>C	c.(10675-10677)TTT>TCT	p.F3559S	RYR2_uc010pxz.1_Missense_Mutation_p.F514S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3559					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AATGTGCTTTTTCATCTTGAA	0.353													C	237886549	T	C	237886549	3	2	196	1	0	0	0	0	1	0	0	0	13769	1841	64	3	10970	3	RYR2	1	237886549	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	6830240	237886549	11364072	23	108836											
RYR2	6262	broad.mit.edu	37	chr1	237961336	237961336	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttttctcataccccaaGgttatggataaatatggaga	8	7	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr1:237961336G>A	uc001hyl.1	+	97	14077	c.13957_splice	c.e97-1	p.V4653_splice	RYR2_uc010pyb.1_Splice_Site_p.V86_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CATACCCCAAGGTTATGGATA	0.363													A	237961336	G	A	237961336	5	1	196	1	0	0	0	0	0	0	1	0	13769	1014	35	4	14342	4	RYR2	1	237961336	Splice_Site	SNP	G	TCGA-CG-5730-01A-11D-1600-08	74787	237961336	11289285	24	108837											
TSSC1	7260	broad.mit.edu	37	chr2	3196198	3196198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttacttctcttcagaacGgtggtcctcctggtcactga	8	14	3	2	rs141014675	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:3196198G>A	uc002qxj.2	-	8	1169	c.976C>T	c.(976-978)CGT>TGT	p.R326C	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	326							protein binding				0	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)		TCTTCAGAACGGTGGTCCTCC	0.567													A	3196198	G	A	3196198	3	1	196	1	0	0	0	0	1	0	0	0	16663	1116	39	1	195	1	TSSC1	2	3196198	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		3196198	240003175	25	108838											
PLB1	151056	broad.mit.edu	37	chr2	28785965	28785965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgggtgactctctcaCggtaagtgaccctgatgcag	12	12	2	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:28785965C>T	uc002rmb.1	+	18	1205	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	PLB1_uc010ezj.1_Missense_Mutation_p.T413M|PLB1_uc002rmc.2_Missense_Mutation_p.T90M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	402	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GACTCTCTCACGGTAAGTGAC	0.502													T	28785965	C	T	28785965	3	4	196	1	0	0	0	0	1	0	0	0	12024	550	19	1	1308	1	PLB1	2	28785965	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	25589767	28785965	214413408	26	108839											
SLC30A6	55676	broad.mit.edu	37	chr2	32399183	32399183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgatatgtactggcttcCtgcttatgtggtgcagttct	10	8	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:32399183C>T	uc002roe.1	+	3	179	c.142C>T	c.(142-144)CTG>TTG	p.L48L	SLC30A6_uc002rof.1_Silent_p.L48L|SLC30A6_uc010ymw.1_Silent_p.L19L|SLC30A6_uc010ezr.1_Silent_p.L48L|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_Intron	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	48	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TACTGGCTTCCTGCTTATGTG	0.318													T	32399183	C	T	32399183	2	4	196	1	0	0	0	0	0	0	0	1	14559	680	24	4		4	SLC30A6	2	32399183	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	3613218	32399183	210800190	27	108840											
FSHR	2492	broad.mit.edu	37	chr2	49195900	49195900	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaggctggcttccatgAgggcgacaagcttttccaga	14	9	0	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:49195900A>T	uc002rww.2	-	9	865	c.791T>A	c.(790-792)CTC>CAC	p.L264H	FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.L238H	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	264	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	GGCTTCCATGAGGGCGACAAG	0.502									Gonadal_Dysgenesis_46_XX				T	49195900	A	T	49195900	3	4	196	1	0	0	0	0	1	0	0	0	6073	304	11	5	1304	5	FSHR	2	49195900	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	16796717	49195900	194003473	28	108841											
NCAPH	23397	broad.mit.edu	37	chr2	97031660	97031660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgacttatttgtgggacCtgttgggaactctgacctct	12	8	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:97031660C>T	uc002svz.1	+	14	1829	c.1745C>T	c.(1744-1746)CCT>CTT	p.P582L	NCAPH_uc010fhv.1_Missense_Mutation_p.P571L|NCAPH_uc010yum.1_Missense_Mutation_p.P558L|NCAPH_uc010fhw.1_Missense_Mutation_p.P571L|NCAPH_uc010yun.1_Missense_Mutation_p.P446L|NCAPH_uc002swa.1_Missense_Mutation_p.P177L	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	582					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				TTTGTGGGACCTGTTGGGAAC	0.488													T	97031660	C	T	97031660	3	4	196	1	0	0	0	0	1	0	0	0	10209	681	24	4	1799	4	NCAPH	2	97031660	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	47835760	97031660	146167713	29	108842											
TBC1D8	11138	broad.mit.edu	37	chr2	101654162	101654162	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgcttgttgaatgaaacacGagtgaagcctgcacagcaag	11	8	0	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:101654162G>C	uc010fiv.2	-	8	1370	c.1239C>G	c.(1237-1239)CTC>CTG	p.L413L	TBC1D8_uc010yvw.1_Silent_p.L428L|TBC1D8_uc002tau.3_Silent_p.L170L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	413					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						AATGAAACACGAGTGAAGCCT	0.468													C	101654162	G	C	101654162	2	2	196	1	0	0	0	0	0	0	0	1	15622	1045	37	5		5	TBC1D8	2	101654162	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	4622502	101654162	141545211	30	108843											
MAP4K4	9448	broad.mit.edu	37	chr2	102505356	102505356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtgttcatgcacaaaAgggctcaaagactaaaattc	9	7	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:102505356A>G	uc002tbg.2	+	29	3650	c.3595A>G	c.(3595-3597)AGG>GGG	p.R1199G	MAP4K4_uc002tbc.2_Missense_Mutation_p.R1280G|MAP4K4_uc002tbd.2_Missense_Mutation_p.R1172G|MAP4K4_uc002tbe.2_Missense_Mutation_p.R1126G|MAP4K4_uc002tbf.2_Missense_Mutation_p.R1233G|MAP4K4_uc010yvy.1_Missense_Mutation_p.R1195G|MAP4K4_uc002tbh.2_Missense_Mutation_p.R1125G|MAP4K4_uc002tbi.2_Missense_Mutation_p.R1002G|MAP4K4_uc010yvz.1_Missense_Mutation_p.R1239G|MAP4K4_uc002tbk.2_Missense_Mutation_p.R654G|MAP4K4_uc002tbl.2_Missense_Mutation_p.R385G	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	1199	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			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CATGCACAAAAGGGCTCAAAG	0.403													G	102505356	A	G	102505356	3	3	196	1	0	0	0	0	1	0	0	0	9262	63	3	3	3984	3	MAP4K4	2	102505356	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	851194	102505356	140694017	31	108844											
SULT1C4	27233	broad.mit.edu	37	chr2	108999963	108999963	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttctatgaggacatgaaGaaggtgagcacagtgccatc	11	9	2	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:108999963G>A	uc002tea.1	+	5	985	c.612G>A	c.(610-612)AAG>AAA	p.K204K	SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.K129K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	204	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						AGGACATGAAGAAGGTGAGCA	0.478													A	108999963	G	A	108999963	2	1	196	1	0	0	0	0	0	0	0	1	15376	933	33	4		4	SULT1C4	2	108999963	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	6494607	108999963	134199410	32	108845											
BUB1	699	broad.mit.edu	37	chr2	111399257	111399257	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtagagctctcctactaataCactgccattctggaataagt	7	10	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:111399257C>G	uc002tgc.2	-	21	2699	c.2587G>C	c.(2587-2589)GTA>CTA	p.V863L	BUB1_uc010yxh.1_Missense_Mutation_p.V843L|BUB1_uc010fkb.2_Missense_Mutation_p.V863L	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	863	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			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CCTACTAATACACTGCCATTC	0.373													G	111399257	C	G	111399257	3	3	196	1	0	0	0	0	1	0	0	0	1570	478	17	5	690	5	BUB1	2	111399257	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2399294	111399257	131800116	33	108846											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135848643	135848643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttcaagttctcagtcactCatcattatcttgtacaagag	5	10	6	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:135848643C>T	uc002tuj.2	+	4	251	c.226C>T	c.(226-228)CAT>TAT	p.H76Y	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.H76Y|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	76						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		CTCAGTCACTCATCATTATCT	0.328													T	135848643	C	T	135848643	3	4	196	1	0	0	0	0	1	0	0	0	12935	826	29	4	240	4	RAB3GAP1	2	135848643	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	24449386	135848643	107350730	34	108847											
LCT	3938	broad.mit.edu	37	chr2	136575399	136575399	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatcccagatgctcacccCtctcccaccctcggcccagc	7	21	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:136575399C>G	uc002tuu.1	-	6	1230	c.1219G>C	c.(1219-1221)GGG>CGG	p.G407R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	407	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATGCTCACCCCTCTCCCACCC	0.617													G	136575399	C	G	136575399	3	3	196	1	0	0	0	0	1	0	0	0	8693	681	24	5	4612	5	LCT	2	136575399	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	726756	136575399	106623974	35	108848											
LRP1B	53353	broad.mit.edu	37	chr2	141459402	141459402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccccttctgacagacccGtttgcatgtgctctgccaaa	9	14	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:141459402G>A	uc002tvj.1	-	40	7287	c.6315C>T	c.(6313-6315)AAC>AAT	p.N2105N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2105	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TGACAGACCCGTTTGCATGTG	0.428										TSP Lung(27;0.18)			A	141459402	G	A	141459402	2	1	196	1	0	0	0	0	0	0	0	1	8955	1136	40	1		1	LRP1B	2	141459402	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	4884003	141459402	101739971	36	108849											
GPR155	151556	broad.mit.edu	37	chr2	175346609	175346609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attagtggaattaaatccatGcgttactgctgtaggcaaag	10	6	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:175346609G>T	uc002uit.2	-	3	467	c.76C>A	c.(76-78)CAT>AAT	p.H26N	GPR155_uc002uiu.2_Missense_Mutation_p.H26N|GPR155_uc002uiv.2_Missense_Mutation_p.H26N|GPR155_uc010fqs.2_Missense_Mutation_p.H26N	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	26					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						TTAAATCCATGCGTTACTGCT	0.418													T	175346609	G	T	175346609	3	4	196	1	0	0	0	0	1	0	0	0	6660	1319	46	5	2596	5	GPR155	2	175346609	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	33887207	175346609	67852764	37	108850											
TTN	7273	broad.mit.edu	37	chr2	179410279	179410279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttgacacgtgtccagCgcaggctcttcttctcacgt	9	13	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:179410279C>T	uc010zfg.1	-	293	88078	c.87854G>A	c.(87853-87855)CGC>CAC	p.R29285H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22980H|TTN_uc010zfi.1_Missense_Mutation_p.R22913H|TTN_uc010zfj.1_Missense_Mutation_p.R22788H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30212							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGTGTCCAGCGCAGGCTCTT	0.488													T	179410279	C	T	179410279	3	4	196	1	0	0	0	0	1	0	0	0	16732	768	27	1	12497	1	TTN	2	179410279	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	4063670	179410279	63789094	38	108851											
TTN	7273	broad.mit.edu	37	chr2	179456552	179456552	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatcacgatccggcttattCcagactagggagacttcagt	9	12	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:179456552C>T	uc010zfg.1	-	252	52514	c.52290G>A	c.(52288-52290)TGG>TGA	p.W17430*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W11125*|TTN_uc010zfi.1_Nonsense_Mutation_p.W11058*|TTN_uc010zfj.1_Nonsense_Mutation_p.W10933*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18357							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGGCTTATTCCAGACTAGGG	0.433													T	179456552	C	T	179456552	4	4	196	1	0	0	0	0	0	1	0	0	16732	856	30	4	48225	4	TTN	2	179456552	Nonsense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	46273	179456552	63742821	39	108852											
TTN	7273	broad.mit.edu	37	chr2	179489303	179489303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgaccctgccatcagCaacaatttcatacttcttgc	4	13	4	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:179489303C>T	uc010zfg.1	-	191	37224	c.37000G>A	c.(37000-37002)GCT>ACT	p.A12334T	TTN_uc010zfh.1_Missense_Mutation_p.A6029T|TTN_uc010zfi.1_Missense_Mutation_p.A5962T|TTN_uc010zfj.1_Missense_Mutation_p.A5837T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13261							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCATCAGCAACAATTTCA	0.398													T	179489303	C	T	179489303	3	4	196	1	0	0	0	0	1	0	0	0	16732	710	25	2	63473	2	TTN	2	179489303	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	32751	179489303	63710070	40	108853											
NCKAP1	10787	broad.mit.edu	37	chr2	183846105	183846105	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattaattcagcaatgtgcCttttttaaaatttcaagaaa	4	5	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:183846105C>T	uc002upc.2	-	13	1611	c.1209_splice	c.e13-1	p.K403_splice	NCKAP1_uc002upb.2_Splice_Site_p.K409_splice	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGCAATGTGCCTTTTTTAAAA	0.289													T	183846105	C	T	183846105	5	4	196	1	0	0	0	0	0	0	1	0	10221	695	24	4	2254	4	NCKAP1	2	183846105	Splice_Site	SNP	C	TCGA-CG-5730-01A-11D-1600-08	4356802	183846105	59353268	41	108854											
ITGAV	3685	broad.mit.edu	37	chr2	187490295	187490295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggaacaaagactgttgaGtatgctccatgtagatcacg	11	7	1	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:187490295G>T	uc002upq.2	+	4	780	c.504G>T	c.(502-504)GAG>GAT	p.E168D	ITGAV_uc010frs.2_Missense_Mutation_p.E168D|ITGAV_uc010zfv.1_Missense_Mutation_p.E122D	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	168	FG-GAP 2.|Extracellular (Potential).				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			ovary(2)|kidney(1)|skin(1)	4			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)		AGACTGTTGAGTATGCTCCAT	0.388													T	187490295	G	T	187490295	3	4	196	1	0	0	0	0	1	0	0	0	7888	1020	36	5	569	5	ITGAV	2	187490295	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	3644190	187490295	55709078	42	108855											
OBSL1	23363	broad.mit.edu	37	chr2	220421289	220421289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcttgaaccattctggGccatctccacctggggccct	11	15	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:220421289G>A	uc010fwk.2	-	13	4280	c.4223C>T	c.(4222-4224)GCC>GTC	p.A1408V	OBSL1_uc002vmh.1_Missense_Mutation_p.A307V|OBSL1_uc010zli.1_Missense_Mutation_p.A215V|OBSL1_uc010fwl.1_Missense_Mutation_p.A883V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1408	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		ACCATTCTGGGCCATCTCCAC	0.637													A	220421289	G	A	220421289	3	1	196	1	0	0	0	0	1	0	0	0	10813	1203	42	2	1526	2	OBSL1	2	220421289	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	32930994	220421289	22778084	43	108856											
HJURP	55355	broad.mit.edu	37	chr2	234750099	234750099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggactcaggcaatattcccGatgaagctgatcaaatcgga	11	9	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr2:234750099G>A	uc002vvg.2	-	8	1393	c.1327C>T	c.(1327-1329)CGG>TGG	p.R443W	HJURP_uc010znd.1_Missense_Mutation_p.R382W|HJURP_uc010zne.1_Missense_Mutation_p.R351W	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	443					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			ovary(1)	1		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)		CAATATTCCCGATGAAGCTGA	0.527													A	234750099	G	A	234750099	3	1	196	1	0	0	0	0	1	0	0	0	7189	1057	37	1	927	1	HJURP	2	234750099	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	14328810	234750099	8449274	44	108857											
MTMR14	64419	broad.mit.edu	37	chr3	9704013	9704013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgcagcaagatggcccGgtgcagaggacggtttgtct	14	12	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:9704013G>A	uc003brz.2	+	3	495	c.371G>A	c.(370-372)CGG>CAG	p.R124Q	MTMR14_uc003bsa.2_Missense_Mutation_p.R124Q|MTMR14_uc003bsb.2_Missense_Mutation_p.R124Q|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	124						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					AAGATGGCCCGGTGCAGAGGA	0.532													A	9704013	G	A	9704013	3	1	196	1	0	0	0	0	1	0	0	0	9942	1116	39	1	381	1	MTMR14	3	9704013	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		9704013	188318417	45	108858											
ATP2B2	491	broad.mit.edu	37	chr3	10400407	10400407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcctcgatgcccaccaCgcagatgcaggtgagttcgt	13	13	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:10400407C>T	uc003bvt.2	-	14	2543	c.2104G>A	c.(2104-2106)GTG>ATG	p.V702M	ATP2B2_uc003bvv.2_Missense_Mutation_p.V657M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V657M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V407M	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	702	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ATGCCCACCACGCAGATGCAG	0.637													T	10400407	C	T	10400407	3	4	196	1	0	0	0	0	1	0	0	0	1140	536	19	1	1667	1	ATP2B2	3	10400407	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	696394	10400407	187622023	46	108859											
CCDC13	152206	broad.mit.edu	37	chr3	42794186	42794186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaattttggtggcgaccaCgtctccggctacaccggctg	11	14	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:42794186C>T	uc003cly.3	-	4	478	c.394G>A	c.(394-396)GTG>ATG	p.V132M	CCDC13_uc003clz.2_Missense_Mutation_p.V132M|CCDC13_uc011azq.1_Missense_Mutation_p.V132M	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	132										ovary(1)	1						GTGGCGACCACGTCTCCGGCT	0.483													T	42794186	C	T	42794186	3	4	196	1	0	0	0	0	1	0	0	0	2765	536	19	1	1805	1	CCDC13	3	42794186	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	32393779	42794186	155228244	47	108860											
ZNF167	55888	broad.mit.edu	37	chr3	44611508	44611509	+	Frame_Shift_Ins	INS	-	-	G													ggacatcagggggactctttINSggggtggttcctggggcagc							TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:44611508_44611509insG	uc010hin.2	+	6	1294_1295	c.906_907insG	c.(904-909)TTTGGGfs	p.F302fs	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Frame_Shift_Ins_p.F151fs|ZNF167_uc003cnj.2_Frame_Shift_Ins_p.F302fs|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	302_303	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GGGGACTCTTTGGGGTGGTTCC	0.465													G	44611509	-	G	44611508	7	5	196	1	0	1	1	0	0	0	0	0	17738	1809	63	0	924	0	ZNF167	3	44611508	Frame_Shift_Ins	INS	-	TCGA-CG-5730-01A-11D-1600-08	1817322	44611508	153410922	48	108861	519	2									
ZNF167	55888	broad.mit.edu	37	chr3	44611509	44611510	+	Frame_Shift_Ins	INS	-	-	G													gacatcagggggactctttgINSgggtggttcctggggcagca							TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:44611508_44611509T>TG	uc003cnj.3	+	5	1322_1323	c.906_907T>TG	c.(904-909)tttgggfs	p.F302fs	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Frame_Shift_Ins_p.F302fs|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Frame_Shift_Ins_p.F151fs	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	302	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GGGGACTCTTTGGGGTGGTTCC	0.465													G	44611510	-	G	44611509	7	5	196	1	0	1	1	0	0	0	0	0	17738	1348	47	0	925	0	ZNF167	3	44611509	Frame_Shift_Ins	INS	-	TCGA-CG-5730-01A-11D-1600-08	1	44611509	153410921	49	108862	519	2									
DNAH1	25981	broad.mit.edu	37	chr3	52420183	52420183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccatccccaggtggataCggccatcgccgaggagaccc	11	17	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:52420183C>T	uc011bef.1	+	55	8894	c.8633C>T	c.(8632-8634)ACG>ATG	p.T2878M	DNAH1_uc003ddv.2_Translation_Start_Site	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2878	Potential.|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			large_intestine(3)	3				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)		CAGGTGGATACGGCCATCGCC	0.403													T	52420183	C	T	52420183	3	4	196	1	0	0	0	0	1	0	0	0	4597	536	19	1	8847	1	DNAH1	3	52420183	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	7808674	52420183	145602247	50	108863											
CADPS	8618	broad.mit.edu	37	chr3	62467417	62467417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcatcatatatagcagCcatccatgacggtgccgaaa	8	13	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:62467417C>T	uc003dll.2	-	22	3514	c.3154G>A	c.(3154-3156)GCT>ACT	p.A1052T	CADPS_uc003dlj.1_Missense_Mutation_p.A2T|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1052	MHD1.|Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		TATATAGCAGCCATCCATGAC	0.398													T	62467417	C	T	62467417	3	4	196	1	0	0	0	0	1	0	0	0	2570	739	26	2	943	2	CADPS	3	62467417	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	10047234	62467417	135555013	51	108864											
CNTN3	5067	broad.mit.edu	37	chr3	74334623	74334624	+	Frame_Shift_Ins	INS	-	-	C													ggatgattcctcctttccacINSccccattccagtaccgcacc							TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:74334622_74334623A>AC	uc003dpm.1	-	18	2617_2618	c.2537_2538T>GT	c.(2536-2538)ggtfs	p.G846fs		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	846	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)		CCTCCTTTCCACCCCCATTCCA	0.485													C	74334624	-	C	74334623	7	5	196	1	0	1	1	0	0	0	0	0	3642	507	18	0	565	0	CNTN3	3	74334623	Frame_Shift_Ins	INS	-	TCGA-CG-5730-01A-11D-1600-08	11867206	74334623	123687807	52	108865											
MYH15	22989	broad.mit.edu	37	chr3	108107879	108107879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctctgggcctctgcacTgcgacggatttcaccctcca	8	18	3	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:108107879T>C	uc003dxa.1	-	39	5590	c.5533A>G	c.(5533-5535)AGT>GGT	p.S1845G		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1845	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						GCCTCTGCACTGCGACGGATT	0.552													C	108107879	T	C	108107879	3	2	196	1	0	0	0	0	1	0	0	0	10034	1580	55	3	323	3	MYH15	3	108107879	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	33773256	108107879	89914551	53	108866											
SIDT1	54847	broad.mit.edu	37	chr3	113334964	113334964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatttgggaattttccggCgggctgccatggtgttctac	13	9	1	1	rs140834549		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:113334964C>T	uc003eak.2	+	20	2635	c.1984C>T	c.(1984-1986)CGG>TGG	p.R662W	SIDT1_uc011big.1_Missense_Mutation_p.R415W|SIDT1_uc011bii.1_Missense_Mutation_p.R115W	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	662	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						AATTTTCCGGCGGGCTGCCAT	0.458													T	113334964	C	T	113334964	3	4	196	1	0	0	0	0	1	0	0	0	14302	759	27	1	2062	1	SIDT1	3	113334964	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	5227085	113334964	84687466	54	108867											
SIAH2	6478	broad.mit.edu	37	chr3	150480301	150480301	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagggcgcccctgcacgtCgggcagcagctcaacttctg	13	15	3	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:150480301C>T	uc003eyi.2	-	1	963	c.336G>A	c.(334-336)CCG>CCA	p.P112P		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	112	RING-type.				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			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCTGCACGTCGGGCAGCAGC	0.617													T	150480301	C	T	150480301	2	4	196	1	0	0	0	0	0	0	0	1	14300	871	31	1		1	SIAH2	3	150480301	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	37145337	150480301	47542129	55	108868											
PEX5L	51555	broad.mit.edu	37	chr3	179525543	179525543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaatctccagtgctcgcGtataggcctccacggcttcc	10	15	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:179525543G>A	uc003fki.1	-	14	1725	c.1595C>T	c.(1594-1596)ACG>ATG	p.T532M	PEX5L_uc011bqd.1_Missense_Mutation_p.T489M|PEX5L_uc011bqe.1_Missense_Mutation_p.T340M|PEX5L_uc011bqf.1_Missense_Mutation_p.T424M|PEX5L_uc003fkj.1_Missense_Mutation_p.T497M|PEX5L_uc010hxd.1_Missense_Mutation_p.T530M|PEX5L_uc011bqg.1_Missense_Mutation_p.T508M|PEX5L_uc011bqh.1_Missense_Mutation_p.T473M	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	532	TPR 4.				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	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)			CAGTGCTCGCGTATAGGCCTC	0.547													A	179525543	G	A	179525543	3	1	196	1	0	0	0	0	1	0	0	0	11749	1145	40	1	293	1	PEX5L	3	179525543	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	29045242	179525543	18496887	56	108869											
CCDC39	339829	broad.mit.edu	37	chr3	180359946	180359946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagcatttctcgagtaCgcttaacttcaagttttaaa	7	7	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr3:180359946C>T	uc010hxe.2	-	13	1824	c.1709G>A	c.(1708-1710)CGT>CAT	p.R570H	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	570	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCTCGAGTACGCTTAACTTC	0.323													T	180359946	C	T	180359946	3	4	196	1	0	0	0	0	1	0	0	0	2811	536	19	1	1148	1	CCDC39	3	180359946	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	834403	180359946	17662484	57	108870											
SLIT2	9353	broad.mit.edu	37	chr4	20525651	20525651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcatttggcccagaAcccctttatttgtgactgcc	8	13	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr4:20525651A>C	uc003gpr.1	+	14	1493	c.1289A>C	c.(1288-1290)AAC>ACC	p.N430T	SLIT2_uc003gps.1_Missense_Mutation_p.N430T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	430	LRRCT 2.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						TTGGCCCAGAACCCCTTTATT	0.483													C	20525651	A	C	20525651	3	2	196	1	0	0	0	0	1	0	0	0	14740	43	2	5	1343	5	SLIT2	4	20525651	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08		20525651	170628625	58	108871											
FRYL	285527	broad.mit.edu	37	chr4	48578238	48578238	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcttagcattgatggggcTactaaggaaaaaaaaagaaa	9	4	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr4:48578238T>A	uc003gyh.1	-	24	3135	c.2530A>T	c.(2530-2532)AGC>TGC	p.S844C	FRYL_uc003gyk.2_Missense_Mutation_p.S844C	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTGATGGGGCTACTAAGGAAA	0.318													A	48578238	T	A	48578238	3	1	196	1	0	0	0	0	1	0	0	0	6064	1536	53	5	6675	5	FRYL	4	48578238	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	28052587	48578238	142576038	59	108872											
C4orf37	285555	broad.mit.edu	37	chr4	98633896	98633896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctttggactcttcaaagCgctttgatgctttcacaaat	6	10	4	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr4:98633896C>T	uc003htt.1	-	10	1364	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	425											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CTCTTCAAAGCGCTTTGATGC	0.373													T	98633896	C	T	98633896	3	4	196	1	0	0	0	0	1	0	0	0	2267	768	27	1	113	1	C4orf37	4	98633896	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	50055658	98633896	92520380	60	108873											
FAT4	79633	broad.mit.edu	37	chr4	126411278	126411278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggactgtgcctcccaccCgtgccagaatggtggcagct	14	13	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr4:126411278C>T	uc003ifj.3	+	17	13301	c.13301C>T	c.(13300-13302)CCG>CTG	p.P4434L	FAT4_uc011cgp.1_Missense_Mutation_p.P2675L|FAT4_uc003ifi.1_Missense_Mutation_p.P1911L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4434	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCCTCCCACCCGTGCCAGAAT	0.607													T	126411278	C	T	126411278	3	4	196	1	0	0	0	0	1	0	0	0	5692	652	23	1	13367	1	FAT4	4	126411278	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	27777382	126411278	64742998	61	108874											
PLK4	10733	broad.mit.edu	37	chr4	128807158	128807158	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttatcgggagaccacccttCgacactgacacagtcaagaa	8	13	1	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr4:128807158C>T	uc003ifo.2	+	5	878	c.633C>T	c.(631-633)TTC>TTT	p.F211F	PLK4_uc011cgs.1_Silent_p.F179F|PLK4_uc011cgt.1_Silent_p.F170F	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	211	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				0						GACCACCCTTCGACACTGACA	0.413													T	128807158	C	T	128807158	2	4	196	1	0	0	0	0	0	0	0	1	12098	883	31	1		1	PLK4	4	128807158	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2395880	128807158	62347118	62	108875											
SMAD1	4086	broad.mit.edu	37	chr4	146467918	146467918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgtctactatgagctcaAcaatcgtgtgggtgaagcgt	11	7	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr4:146467918A>G	uc003ikc.2	+	5	1255	c.839A>G	c.(838-840)AAC>AGC	p.N280S	SMAD1_uc003ikd.2_Missense_Mutation_p.N280S|SMAD1_uc010iov.2_Missense_Mutation_p.N280S|SMAD1_uc011cic.1_Missense_Mutation_p.N241S	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	280	MH2.				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			ovary(1)	1	all_hematologic(180;0.151)					TATGAGCTCAACAATCGTGTG	0.453													G	146467918	A	G	146467918	3	3	196	1	0	0	0	0	1	0	0	0	14757	43	2	3	853	3	SMAD1	4	146467918	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	17660760	146467918	44686358	63	108876											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237152	5237152	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttctttgtcaaataaagtCaaagatgggactccatgctc	7	8	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:5237152C>T	uc003jdl.2	+	14	2232	c.2094C>T	c.(2092-2094)GTC>GTT	p.V698V	ADAMTS16_uc003jdk.1_Silent_p.V698V|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	698	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CAAATAAAGTCAAAGATGGGA	0.318													T	5237152	C	T	5237152	2	4	196	1	0	0	0	0	0	0	0	1	261	813	29	4		4	ADAMTS16	5	5237152	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08		5237152	175678108	64	108877											
SEMA5A	9037	broad.mit.edu	37	chr5	9227046	9227046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaataaccggtcgccacccaCcagaagcacccggatgtagt	10	14	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:9227046C>A	uc003jek.2	-	7	1079	c.367G>T	c.(367-369)GTG>TTG	p.V123L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	123	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TCGCCACCCACCAGAAGCACC	0.393													A	9227046	C	A	9227046	3	1	196	1	0	0	0	0	1	0	0	0	14037	507	18	5	2925	5	SEMA5A	5	9227046	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	3989894	9227046	171688214	65	108878											
BASP1	10409	broad.mit.edu	37	chr5	17275368	17275368	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagggctacaatgtgAacgacgagaaagccaaggag	14	6	0	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:17275368A>T	uc003jfx.2	+	2	222	c.43A>T	c.(43-45)AAC>TAC	p.N15Y		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	15					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						CTACAATGTGAACGACGAGAA	0.562													T	17275368	A	T	17275368	3	4	196	1	0	0	0	0	1	0	0	0	1317	246	9	5	45	5	BASP1	5	17275368	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	8048322	17275368	163639892	66	108879											
GHR	2690	broad.mit.edu	37	chr5	42629152	42629152	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagccacagcagctaTccttagcagagcaccctgga	9	13	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:42629152T>A	uc003jmt.2	+	3	126	c.83T>A	c.(82-84)ATC>AAC	p.I28N	GHR_uc011cpq.1_5'UTR	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	28	Extracellular (Potential).				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			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACAGCAGCTATCCTTAGCAGA	0.353													A	42629152	T	A	42629152	3	1	196	1	0	0	0	0	1	0	0	0	6371	1435	50	5	89	5	GHR	5	42629152	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	25353784	42629152	138286108	67	108880											
PCSK1	5122	broad.mit.edu	37	chr5	95748060	95748060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagccttctgggctagccGgccaggcccctccacagttt	10	15	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:95748060G>A	uc003kls.1	-	7	1050	c.844C>T	c.(844-846)CGG>TGG	p.R282W	PCSK1_uc010jbi.1_Missense_Mutation_p.R43W	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	282	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			ovary(2)	2		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)	TGGGCTAGCCGGCCAGGCCCC	0.478													A	95748060	G	A	95748060	3	1	196	1	0	0	0	0	1	0	0	0	11600	1115	39	1	1449	1	PCSK1	5	95748060	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	53118908	95748060	85167200	68	108881											
LNPEP	4012	broad.mit.edu	37	chr5	96320901	96320901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagggatgagcaatacacCgctttatcaaatatgcctaa	7	8	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:96320901C>T	uc003kmv.1	+	3	1492	c.978C>T	c.(976-978)ACC>ACT	p.T326T	LNPEP_uc003kmw.1_Silent_p.T312T	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	326	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		AGCAATACACCGCTTTATCAA	0.373													T	96320901	C	T	96320901	2	4	196	1	0	0	0	0	0	0	0	1	8864	639	23	1		1	LNPEP	5	96320901	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	572841	96320901	84594359	69	108882											
PCDHA2	56146	broad.mit.edu	37	chr5	140175691	140175691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggatcgcgactctggtaCgaatggacatgtcacctgct	12	11	2	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:140175691C>T	uc003lhd.2	+	1	1248	c.1142C>T	c.(1141-1143)ACG>ATG	p.T381M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.T381M|PCDHA2_uc011czy.1_Missense_Mutation_p.T381M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	381	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTGGTACGAATGGACAT	0.552													T	140175691	C	T	140175691	3	4	196	1	0	0	0	0	1	0	0	0	11524	536	19	1	1144	1	PCDHA2	5	140175691	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	43854790	140175691	40739569	70	108883											
GPR151	134391	broad.mit.edu	37	chr5	145894703	145894705	+	In_Frame_Del	DEL	ATC	ATC	-													cagttggaggttttttggttAtcatccatttccatacacct							TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:145894703_145894705delATC	uc003lod.1	-	1	972_974	c.972_974delGAT	c.(970-975)ATGATA>ATA	p.M324del		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	324	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTTGGTTATCATCCATTTCC	0.458													-	145894705	ATC	-	145894703	7	5	196	1	0	1	0	1	0	0	0	0	6657	449	16	0	289	0	GPR151	5	145894703	In_Frame_Del	DEL	ATC	TCGA-CG-5730-01A-11D-1600-08	5719012	145894703	35020557	71	108884											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555091	178555091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatgtatttgtacgtcagtGagacccgggtgtctcccacc	10	12	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr5:178555091G>A	uc003mjw.2	-	17	2486	c.2486C>T	c.(2485-2487)TCA>TTA	p.S829L		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTACGTCAGTGAGACCCGGGT	0.572													A	178555091	G	A	178555091	3	1	196	1	0	0	0	0	1	0	0	0	265	1294	45	4	1173	4	ADAMTS2	5	178555091	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	32660388	178555091	2360169	72	108885											
DEK	7913	broad.mit.edu	37	chr6	18256032	18256032	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttcactatttacacctgatCtctccaaatcaagaacctca	3	13	4	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:18256032C>G	uc003ncr.1	-	6	696	c.503G>C	c.(502-504)AGA>ACA	p.R168T	DEK_uc011djf.1_Missense_Mutation_p.R134T|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	168	SAP.				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			kidney(1)	1	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)			TACACCTGATCTCTCCAAATC	0.338			T	NUP214	AML								G	18256032	C	G	18256032	3	3	196	1	0	0	0	0	1	0	0	0	4424	913	32	5	648	5	DEK	6	18256032	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08		18256032	152859035	73	108886											
NKAPL	222698	broad.mit.edu	37	chr6	28227362	28227362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttagtcgctctgggtcGcgagggcggctcccaagatt	13	13	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:28227362G>A	uc003nkt.2	+	1	265	c.213G>A	c.(211-213)TCG>TCA	p.S71S	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	71										upper_aerodigestive_tract(1)|ovary(1)	2						GCTCTGGGTCGCGAGGGCGGC	0.607													A	28227362	G	A	28227362	2	1	196	1	0	0	0	0	0	0	0	1	10440	1074	38	1		1	NKAPL	6	28227362	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	9971330	28227362	142887705	74	108887											
TNXB	7148	broad.mit.edu	37	chr6	32029299	32029299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctctcctcgcccccaacaCgcaccacctggggccgcccg	9	23	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:32029299C>T	uc003nzl.2	-	21	7569	c.7367G>A	c.(7366-7368)CGT>CAT	p.R2456H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2516	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				0						GCCCCCAACACGCACCACCTG	0.692													T	32029299	C	T	32029299	3	4	196	1	0	0	0	0	1	0	0	0	16343	536	19	1	7442	1	TNXB	6	32029299	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	3801937	32029299	139085768	75	108888											
C6orf1	221491	broad.mit.edu	37	chr6	34214426	34214426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgaggtgatggtgagGgcatgggaagcagatgctgc	20	5	0	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:34214426G>A	uc003ojf.2	-	5	937	c.345C>T	c.(343-345)GCC>GCT	p.A115A	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Silent_p.A115A|C6orf1_uc003ojh.2_Silent_p.A115A|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	115						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		TGATGGTGAGGGCATGGGAAG	0.627											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	34214426	G	A	34214426	2	1	196	1	0	0	0	0	0	0	0	1	2316	1219	43	4		4	C6orf1	6	34214426	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2185127	34214426	136900641	76	108889											
TULP1	7287	broad.mit.edu	37	chr6	35466196	35466196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtagtctagggtgaaggCgtcctccgccacgcggccga	15	14	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:35466196C>T	uc003okv.3	-	15	1549	c.1537G>A	c.(1537-1539)GCC>ACC	p.A513T	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.A460T	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	513					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			ovary(2)|central_nervous_system(1)	3						AGGGTGAAGGCGTCCTCCGCC	0.667													T	35466196	C	T	35466196	3	4	196	1	0	0	0	0	1	0	0	0	16770	768	27	1	95	1	TULP1	6	35466196	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	1251770	35466196	135648871	77	108890											
DEFB110	245913	broad.mit.edu	37	chr6	49976943	49976943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatattcctctcactttttCgcatctttcaaatctatact	1	12	4	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:49976943C>T	uc011dwr.1	-	2	143	c.97G>A	c.(97-99)GAA>AAA	p.E33K		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					CTCACTTTTTCGCATCTTTCA	0.328													T	49976943	C	T	49976943	3	4	196	1	0	0	0	0	1	0	0	0	4400	893	31	1	93	1	DEFB110	6	49976943	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	14510747	49976943	121138124	78	108891											
BAI3	577	broad.mit.edu	37	chr6	69772895	69772895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccaaaacaaccgattcGtttctggagatagaactagc	8	10	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:69772895G>A	uc003pev.3	+	16	2851	c.2403G>A	c.(2401-2403)TCG>TCA	p.S801S	BAI3_uc010kak.2_Silent_p.S801S	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	801	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CAACCGATTCGTTTCTGGAGA	0.368													A	69772895	G	A	69772895	2	1	196	1	0	0	0	0	0	0	0	1	1300	1132	40	1		1	BAI3	6	69772895	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	19795952	69772895	101342172	79	108892											
SLC22A1	6580	broad.mit.edu	37	chr6	160543066	160543066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtcggctgcctttgcGcccatctgtgtgggcatcgt	13	13	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:160543066G>A	uc003qtc.2	+	1	204	c.99G>A	c.(97-99)GCG>GCA	p.A33A	SLC22A1_uc003qtd.2_Silent_p.A33A	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	33	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CTGCCTTTGCGCCCATCTGTG	0.607													A	160543066	G	A	160543066	2	1	196	1	0	0	0	0	0	0	0	1	14440	1074	38	1		1	SLC22A1	6	160543066	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	90770171	160543066	10572001	80	108893											
SMOC2	64094	broad.mit.edu	37	chr6	169051367	169051367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgtttttcaggttgtcCgggtgccaaaaagcatgagt	12	8	1	1	rs148223188		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr6:169051367C>T	uc003qws.1	+	10	934	c.914C>T	c.(913-915)CCG>CTG	p.P305L	SMOC2_uc003qwr.1_Missense_Mutation_p.P316L|SMOC2_uc011egu.1_5'UTR	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	305					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TCAGGTTGTCCGGGTGCCAAA	0.473													T	169051367	C	T	169051367	3	4	196	1	0	0	0	0	1	0	0	0	14802	652	23	1	985	1	SMOC2	6	169051367	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	8508301	169051367	2063700	81	108894											
TMEM195	392636	broad.mit.edu	37	chr7	15425182	15425182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagggaacttctttgccGgtgacctagggagacaagaa	14	7	1	4	rs137980424	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:15425182G>A	uc003stb.1	-	10	1133	c.963C>T	c.(961-963)ACC>ACT	p.T321T		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	321					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CTTCTTTGCCGGTGACCTAGG	0.358													A	15425182	G	A	15425182	2	1	196	1	0	0	0	0	0	0	0	1	16114	1103	39	1		1	TMEM195	7	15425182	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08		15425182	143713481	82	108895											
GGCT	79017	broad.mit.edu	37	chr7	30544315	30544315	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgtgacgtccttgcagcccGagttggccatatcccactac	9	16	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:30544315G>T	uc003tba.2	-	1	138	c.11C>A	c.(10-12)TCG>TAG	p.S4*	GGCT_uc003tbb.2_Nonsense_Mutation_p.S4*|GGCT_uc003tbc.2_RNA	NM_024051	NP_076956	O75223	GGCT_HUMAN	gamma-glutamyl cyclotransferase	4					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity				0						CTTGCAGCCCGAGTTGGCCAT	0.607													T	30544315	G	T	30544315	4	4	196	1	0	0	0	0	0	1	0	0	6355	1059	37	5	571	5	GGCT	7	30544315	Nonsense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	15119133	30544315	128594348	83	108896											
GLI3	2737	broad.mit.edu	37	chr7	42004251	42004251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaactcagagtttttggCgctggtcccctgtagcaggc	12	10	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:42004251C>T	uc011kbh.1	-	15	4511	c.4420G>A	c.(4420-4422)GCC>ACC	p.A1474T	GLI3_uc011kbg.1_Missense_Mutation_p.A1415T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1474					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GAGTTTTTGGCGCTGGTCCCC	0.522									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42004251	C	T	42004251	3	4	196	1	0	0	0	0	1	0	0	0	6439	768	27	1	326	1	GLI3	7	42004251	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	11459936	42004251	117134412	84	108897											
STAG3L4	64940	broad.mit.edu	37	chr7	66774084	66774084	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctgctcactggcttctcaGactcacaagtctgcgccttc	7	17	4	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:66774084G>T	uc003tvt.3	+	3	517	c.250G>T	c.(250-252)GAC>TAC	p.D84Y	STAG3L4_uc010laj.2_RNA	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN	stromal antigen 3-like 4	84											0		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGGCTTCTCAGACTCACAAGT	0.507													T	66774084	G	T	66774084	3	4	196	1	0	0	0	0	1	0	0	0	15246	942	33	5	256	5	STAG3L4	7	66774084	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	24769833	66774084	92364579	85	108898											
LAT2	7462	broad.mit.edu	37	chr7	73638356	73638356	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctctgcaggtgcccagCaggagggcataggtggcctc	14	14	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:73638356C>T	uc003uag.2	+	12	1007	c.457C>T	c.(457-459)CAG>TAG	p.Q153*	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Nonsense_Mutation_p.Q153*|LAT2_uc003uai.2_Nonsense_Mutation_p.Q153*|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	153	Cytoplasmic (Potential).				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				0						AGGTGCCCAGCAGGAGGGCAT	0.637													T	73638356	C	T	73638356	4	4	196	1	0	0	0	0	0	1	0	0	8645	711	25	2	495	2	LAT2	7	73638356	Nonsense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	6864272	73638356	85500307	86	108899											
UPK3B	80761	broad.mit.edu	37	chr7	76140158	76140158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccctccgattgggagaGgcagccccagggacccccac	12	19	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:76140158G>A	uc003ufq.2	+	1	414	c.189G>A	c.(187-189)GAG>GAA	p.E63E	UPK3B_uc003ufo.2_Intron|UPK3B_uc010ldk.1_Intron	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	uroplakin 3B isoform a	63	Lumenal (Potential).				negative regulation of gene expression	integral to membrane|plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(862;0.204)				GATTGGGAGAGGCAGCCCCAG	0.687													A	76140158	G	A	76140158	2	1	196	1	0	0	0	0	0	0	0	1	17008	991	35	4		4	UPK3B	7	76140158	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2501802	76140158	82998505	87	108900											
TECPR1	25851	broad.mit.edu	37	chr7	97860371	97860371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggaccagatggcctgCggggacgggcggccctgcac	18	12	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:97860371C>T	uc003upg.2	-	15	2389	c.2184G>A	c.(2182-2184)CCG>CCA	p.P728P	TECPR1_uc003uph.1_Silent_p.P658P	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	728						integral to membrane	protein binding			pancreas(1)	1						AGATGGCCTGCGGGGACGGGC	0.642													T	97860371	C	T	97860371	2	4	196	1	0	0	0	0	0	0	0	1	15740	755	27	1		1	TECPR1	7	97860371	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	21720213	97860371	61278292	88	108901											
SLC12A9	56996	broad.mit.edu	37	chr7	100454554	100454554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggaacctgctgtatggCtccctgctgctgggccttgt	14	12	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:100454554C>T	uc003uwp.2	+	5	655	c.513C>T	c.(511-513)GGC>GGT	p.G171G	SLC12A9_uc003uwo.1_Silent_p.G82G|SLC12A9_uc003uwq.2_Silent_p.G82G|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	171	Helical; (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTGTATGGCTCCCTGCTGC	0.657													T	100454554	C	T	100454554	2	4	196	1	0	0	0	0	0	0	0	1	14390	784	28	2		2	SLC12A9	7	100454554	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2594183	100454554	58684109	89	108902											
LAMB1	3912	broad.mit.edu	37	chr7	107594141	107594141	+	Frame_Shift_Del	DEL	C	C	-													cactggcaaggctgacacgaCcccccaacttctgatggatt							TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:107594140_107594140AC>A	uc003vev.2	-	19	3147	c.2986_2986GT>T	c.(2986-2988)tcgfs	p.S996fs	LAMB1_uc003vew.2_Frame_Shift_Del_p.S972fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	972	Laminin EGF-like 10.				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)	GGCTGACACGACCCCCCAACT	0.502													-	107594141	C	-	107594141	7	5	196	1	0	1	0	1	0	0	0	0	8610	494	18	0	2499	0	LAMB1	7	107594141	Frame_Shift_Del	DEL	C	TCGA-CG-5730-01A-11D-1600-08	7139587	107594141	51544522	90	108903											
DOCK4	9732	broad.mit.edu	37	chr7	111386415	111386415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagcatcagctctcttaatCgtgcaattttctccccatct	4	14	4	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:111386415C>T	uc003vfx.2	-	43	4894	c.4625G>A	c.(4624-4626)CGA>CAA	p.R1542Q	DOCK4_uc011kml.1_Missense_Mutation_p.R423Q|DOCK4_uc011kmm.1_Missense_Mutation_p.R449Q|DOCK4_uc003vfw.2_Missense_Mutation_p.R992Q|DOCK4_uc003vfy.2_Missense_Mutation_p.R1587Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1542	DHR-2.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTCTCTTAATCGTGCAATTTT	0.448													T	111386415	C	T	111386415	3	4	196	1	0	0	0	0	1	0	0	0	4689	884	31	1	1315	1	DOCK4	7	111386415	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	3792274	111386415	47752248	91	108904											
C7orf53	286006	broad.mit.edu	37	chr7	112129968	112129968	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacatgatcgtaaagcgactCaaccaactcaaccaactgga	6	12	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr7:112129968C>T	uc011kmq.1	+	4	495	c.360C>T	c.(358-360)CTC>CTT	p.L120L	C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Silent_p.L120L	NM_001134468	NP_001127940	Q8N8F7	CG053_HUMAN	hypothetical protein LOC286006	120	Potential.					integral to membrane				ovary(1)	1						TAAAGCGACTCAACCAACTCA	0.388													T	112129968	C	T	112129968	2	4	196	1	0	0	0	0	0	0	0	1	2402	813	29	4		4	C7orf53	7	112129968	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	743553	112129968	47008695	92	108905											
C8orf22	492307	broad.mit.edu	37	chr8	49985432	49985432	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttgccttctagccagaaatCagtattatcgaagtaagttg	9	7	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr8:49985432C>A	uc003xqq.3	+	2	226	c.43C>A	c.(43-45)CAG>AAG	p.Q15K		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	hypothetical protein LOC492307	15											0		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGCCAGAAATCAGTATTATCG	0.423													A	49985432	C	A	49985432	3	1	196	1	0	0	0	0	1	0	0	0	2419	827	29	5	45	5	C8orf22	8	49985432	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08		49985432	96378590	93	108906											
KCNB2	9312	broad.mit.edu	37	chr8	73849466	73849466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctgccgccgccctccGcctctcacttgcagatgaag	10	19	1	2	rs139648032		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr8:73849466G>A	uc003xzb.2	+	3	2464	c.1876G>A	c.(1876-1878)GCC>ACC	p.A626T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	626	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GCCGCCCTCCGCCTCTCACTT	0.582													A	73849466	G	A	73849466	3	1	196	1	0	0	0	0	1	0	0	0	8013	1087	38	1	1882	1	KCNB2	8	73849466	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	23864034	73849466	72514556	94	108907											
WWP1	11059	broad.mit.edu	37	chr8	87470223	87470223	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtttatcgacattatacaaGaaacagcaagcaaatcattt	5	7	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr8:87470223G>A	uc003ydt.2	+	22	2748	c.2468G>A	c.(2467-2469)AGA>AAA	p.R823K		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	823	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			lung(1)|liver(1)	2						CATTATACAAGAAACAGCAAG	0.363													A	87470223	G	A	87470223	3	1	196	1	0	0	0	0	1	0	0	0	17412	942	33	4	2546	4	WWP1	8	87470223	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	13620757	87470223	58893799	95	108908											
CNGB3	54714	broad.mit.edu	37	chr8	87656093	87656093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagcaagtatccagttgttCgaataactctgtcagagaga	9	8	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr8:87656093C>T	uc003ydx.2	-	10	1110	c.1064G>A	c.(1063-1065)CGA>CAA	p.R355Q	CNGB3_uc010maj.2_Missense_Mutation_p.R217Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	355	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TCCAGTTGTTCGAATAACTCT	0.358													T	87656093	C	T	87656093	3	4	196	1	0	0	0	0	1	0	0	0	3601	884	31	1	1401	1	CNGB3	8	87656093	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	185870	87656093	58707929	96	108909											
CSMD3	114788	broad.mit.edu	37	chr8	114031299	114031299	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtattccataagtataccttGatagggagcactaaatccac	7	9	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr8:114031299G>C	uc003ynu.2	-	6	1186	c.1027C>G	c.(1027-1029)CAA>GAA	p.Q343E	CSMD3_uc003ynt.2_Missense_Mutation_p.Q303E|CSMD3_uc011lhx.1_Missense_Mutation_p.Q343E|CSMD3_uc010mcx.1_Missense_Mutation_p.Q343E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	343	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGTATACCTTGATAGGGAGCA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	114031299	G	C	114031299	3	2	196	1	0	0	0	0	1	0	0	0	3946	1299	45	5	10360	5	CSMD3	8	114031299	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	26375206	114031299	32332723	97	108910											
TRAPPC9	83696	broad.mit.edu	37	chr8	141034153	141034153	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccgggcctccagagtatttGaaattcaggacagcttccag	10	12	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr8:141034153G>A	uc003yvj.2	-	18	2714	c.2580C>T	c.(2578-2580)TTC>TTT	p.F860F	TRAPPC9_uc003yvh.2_Silent_p.F958F|TRAPPC9_uc010mel.1_Silent_p.F281F|TRAPPC9_uc003yvi.1_Silent_p.F851F	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	860					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CAGAGTATTTGAAATTCAGGA	0.458													A	141034153	G	A	141034153	2	1	196	1	0	0	0	0	0	0	0	1	16462	1281	45	4		4	TRAPPC9	8	141034153	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	27002854	141034153	5329869	98	108911											
INSL6	11172	broad.mit.edu	37	chr9	5185416	5185416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcctgtgcaatcaaccGtgagaaaggggtttcctcct	12	11	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr9:5185416G>A	uc003zix.2	-	1	203	c.187C>T	c.(187-189)CGG>TGG	p.R63W		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	63						extracellular region	hormone activity				0	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)		GCAATCAACCGTGAGAAAGGG	0.572													A	5185416	G	A	5185416	3	1	196	1	0	0	0	0	1	0	0	0	7770	1144	40	1	462	1	INSL6	9	5185416	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		5185416	136028015	99	108912											
MLLT3	4300	broad.mit.edu	37	chr9	20413763	20413763	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccacatctgaatcattggGatccacaatatcatcaaatg	5	11	4	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr9:20413763G>T	uc003zoe.2	-	5	1340	c.1081C>A	c.(1081-1083)CCC>ACC	p.P361T	MLLT3_uc011lne.1_Missense_Mutation_p.P329T|MLLT3_uc011lnf.1_Missense_Mutation_p.P358T|MLLT3_uc003zof.2_Missense_Mutation_p.P162T	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GAATCATTGGGATCCACAATA	0.353			T	MLL	ALL								T	20413763	G	T	20413763	3	4	196	1	0	0	0	0	1	0	0	0	9628	1174	41	5	653	5	MLLT3	9	20413763	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	15228347	20413763	120799668	100	108913											
C9orf79	286234	broad.mit.edu	37	chr9	90500615	90500615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggacatcacgaccctaaatCccttctggaacgtgtcaacc	8	14	3	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr9:90500615C>T	uc004app.3	+	4	1248	c.1213C>T	c.(1213-1215)CCC>TCC	p.P405S	C9orf79_uc004apo.1_Missense_Mutation_p.P217S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	405						integral to membrane				ovary(3)	3						GACCCTAAATCCCTTCTGGAA	0.562													T	90500615	C	T	90500615	3	4	196	1	0	0	0	0	1	0	0	0	2497	855	30	4	1227	4	C9orf79	9	90500615	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	70086852	90500615	50712816	101	108914											
PHF19	26147	broad.mit.edu	37	chr9	123624899	123624899	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcctctcttacgcagctcaGaggaggcgctgttctcattt	9	12	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr9:123624899G>A	uc004bks.1	-	11	1350	c.1097C>T	c.(1096-1098)TCT>TTT	p.S366F	PHF19_uc011lyf.1_Missense_Mutation_p.S157F|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						ACGCAGCTCAGAGGAGGCGCT	0.612													A	123624899	G	A	123624899	3	1	196	1	0	0	0	0	1	0	0	0	11829	942	33	4	665	4	PHF19	9	123624899	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	33124284	123624899	17588532	102	108915											
OR1N2	138882	broad.mit.edu	37	chr9	125315995	125315995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacactgttgctgacccgcGtggctttctgtgcccagaaa	10	13	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr9:125315995G>A	uc011lyx.1	+	1	547	c.547G>A	c.(547-549)GTG>ATG	p.V183M		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						GCTGACCCGCGTGGCTTTCTG	0.527													A	125315995	G	A	125315995	3	1	196	1	0	0	0	0	1	0	0	0	10970	1145	40	1	549	1	OR1N2	9	125315995	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	1691096	125315995	15897436	103	108916											
ERCC6	2074	broad.mit.edu	37	chr10	50732109	50732109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttataataatcttcatctCcatcatctcggtatcttccc	3	13	6	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr10:50732109C>T	uc001jhs.3	-	5	1521	c.1367G>A	c.(1366-1368)GGA>GAA	p.G456E	PGBD3_uc001jht.2_5'UTR|PGBD3_uc009xoe.2_Missense_Mutation_p.G456E|PGBD3_uc001jhu.2_Missense_Mutation_p.G456E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	456					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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						ATCTTCATCTCCATCATCTCG	0.423								Direct_reversal_of_damage|NER					T	50732109	C	T	50732109	3	4	196	1	0	0	0	0	1	0	0	0	5217	855	30	4	3182	4	ERCC6	10	50732109	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08		50732109	84802638	104	108917											
DCLRE1A	9937	broad.mit.edu	37	chr10	115608783	115608783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtcttttttcttgatcctCctacattagatgactctggg	7	9	3	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr10:115608783C>T	uc001law.2	-	2	2999	c.2081G>A	c.(2080-2082)GGA>GAA	p.G694E		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	694					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTTGATCCTCCTACATTAGA	0.363								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	115608783	C	T	115608783	3	4	196	1	0	0	0	0	1	0	0	0	4294	855	30	4	1073	4	DCLRE1A	10	115608783	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	64876674	115608783	19925964	105	108918											
TCERG1L	256536	broad.mit.edu	37	chr10	132965080	132965080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtcttctttgtctccatCccggctcttctgggcccgca	8	16	5	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr10:132965080C>T	uc001lkp.2	-	5	1011	c.925G>A	c.(925-927)GAT>AAT	p.D309N	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	309										large_intestine(2)|ovary(2)	4		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)		TTGTCTCCATCCCGGCTCTTC	0.577													T	132965080	C	T	132965080	3	4	196	1	0	0	0	0	1	0	0	0	15683	855	30	4	867	4	TCERG1L	10	132965080	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	17356297	132965080	2569667	106	108919											
EPS8L2	64787	broad.mit.edu	37	chr11	724768	724768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagtacgtcaagatccTgtatgacttcacagcccgaa	9	12	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:724768T>G	uc001lqt.2	+	16	1746	c.1499T>G	c.(1498-1500)CTG>CGG	p.L500R	EPS8L2_uc001lqu.2_Missense_Mutation_p.L500R|EPS8L2_uc010qwk.1_Missense_Mutation_p.L516R|EPS8L2_uc001lqv.2_Missense_Mutation_p.L455R|EPS8L2_uc001lqw.2_Missense_Mutation_p.L112R|EPS8L2_uc001lqx.2_Missense_Mutation_p.L112R|EPS8L2_uc001lqy.2_Missense_Mutation_p.L8R	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	500	SH3.					cytoplasm				pancreas(1)	1		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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCAAGATCCTGTATGACTTC	0.597													G	724768	T	G	724768	3	3	196	1	0	0	0	0	1	0	0	0	5196	1580	55	5	1557	5	EPS8L2	11	724768	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08		724768	134281748	107	108920											
OR52R1	119695	broad.mit.edu	37	chr11	4825678	4825678	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgataacaatcaaaacaaGtgttattattatatacaagg	6	4	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:4825678G>C	uc010qym.1	-	1	170	c.170C>G	c.(169-171)ACT>AGT	p.T57S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	Error:Variant_position_missing_in_Q8NGF1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		ATCAAAACAAGTGTTATTATT	0.368													C	4825678	G	C	4825678	3	2	196	1	0	0	0	0	1	0	0	0	11131	1044	36	5		5	OR52R1	11	4825678	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	4100910	4825678	130180838	108	108921											
HTATIP2	10553	broad.mit.edu	37	chr11	20403748	20403748	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtagaagccaaggttgaaGaattaaaatttgatcgttac	9	4	0	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:20403748G>T	uc009yia.1	+	5	532	c.466G>T	c.(466-468)GAA>TAA	p.E156*	HTATIP2_uc009yib.1_Nonsense_Mutation_p.E156*|HTATIP2_uc001mpx.2_Nonsense_Mutation_p.E190*|HTATIP2_uc001mpz.2_Nonsense_Mutation_p.E156*	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform	156					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0						CAAGGTTGAAGAATTAAAATT	0.338													T	20403748	G	T	20403748	4	4	196	1	0	0	0	0	0	1	0	0	7432	943	33	5	685	5	HTATIP2	11	20403748	Nonsense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	15578070	20403748	114602768	109	108922											
KIF18A	81930	broad.mit.edu	37	chr11	28098559	28098559	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaattgttaattaccttttCtactttgtcttcagaacaca	3	8	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:28098559C>G	uc001msc.2	-	10	1602	c.1420G>C	c.(1420-1422)GAA>CAA	p.E474Q		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	474					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			ovary(2)	2						attaCCTTTTCTACTTTGTCT	0.209													G	28098559	C	G	28098559	3	3	196	1	0	0	0	0	1	0	0	0	8280	922	32	5	1308	5	KIF18A	11	28098559	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	7694811	28098559	106907957	110	108923											
GLYAT	10249	broad.mit.edu	37	chr11	58477536	58477536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaggtctgaatgcagcgCtcaatgaatctctggctcct	11	10	3	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:58477536C>T	uc001nnb.2	-	6	749	c.594G>A	c.(592-594)GAG>GAA	p.E198E		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	198					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GAATGCAGCGCTCAATGAATC	0.498													T	58477536	C	T	58477536	2	4	196	1	0	0	0	0	0	0	0	1	6479	796	28	2		2	GLYAT	11	58477536	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	30378977	58477536	76528980	111	108924											
CTSW	1521	broad.mit.edu	37	chr11	65649722	65649722	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgggcagagaaataaggtcTgaagagccagaggagtcagt	15	5	2	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:65649722T>A	uc001ogc.1	+	4	405	c.363T>A	c.(361-363)TCT>TCA	p.S121S	CTSW_uc001ogb.1_Silent_p.S121S	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	121					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		AAATAAGGTCTGAAGAGCCAG	0.597													A	65649722	T	A	65649722	2	1	196	1	0	0	0	0	0	0	0	1	4042	1567	55	5		5	CTSW	11	65649722	Silent	SNP	T	TCGA-CG-5730-01A-11D-1600-08	7172186	65649722	69356794	112	108925											
FGF3	2248	broad.mit.edu	37	chr11	69625121	69625121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtctcgaagcctgaacGtgagagggctccaggttatc	12	12	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:69625121G>A	uc001oph.2	-	3	1163	c.672C>T	c.(670-672)CAC>CAT	p.H224H		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	224					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AAGCCTGAACGTGAGAGGGCT	0.687													A	69625121	G	A	69625121	2	1	196	1	0	0	0	0	0	0	0	1	5853	1136	40	1		1	FGF3	11	69625121	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	3975399	69625121	65381395	113	108926											
CXCR5	643	broad.mit.edu	37	chr11	118764730	118764730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccgtccatgcctaccgCcaccgccgcctcctctccat	6	23	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:118764730C>T	uc001pue.3	+	2	587	c.477C>T	c.(475-477)CGC>CGT	p.R159R	CXCR5_uc001puf.2_Silent_p.R114R	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	159	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	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)		ATGCCTACCGCCACCGCCGCC	0.612													T	118764730	C	T	118764730	2	4	196	1	0	0	0	0	0	0	0	1	4094	726	26	2		2	CXCR5	11	118764730	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	49139609	118764730	16241786	114	108927											
BCL9L	283149	broad.mit.edu	37	chr11	118772974	118772974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccccatgtccccacccGgggggtgcccaggcacttca	12	18	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:118772974G>A	uc001pug.2	-	6	2443	c.1478C>T	c.(1477-1479)CCG>CTG	p.P493L	BCL9L_uc009zal.2_Missense_Mutation_p.P488L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	493	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				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			ovary(1)|pancreas(1)	2	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)		GTCCCCACCCGGGGGGTGCCC	0.622													A	118772974	G	A	118772974	3	1	196	1	0	0	0	0	1	0	0	0	1382	1116	39	1	3033	1	BCL9L	11	118772974	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	8244	118772974	16233542	115	108928											
OR10G8	219869	broad.mit.edu	37	chr11	123900713	123900713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggccatcagttacccGctcaggtacaccagcatgat	8	14	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr11:123900713G>A	uc001pzp.1	+	1	384	c.384G>A	c.(382-384)CCG>CCA	p.P128P		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		TCAGTTACCCGCTCAGGTACA	0.557													A	123900713	G	A	123900713	2	1	196	1	0	0	0	0	0	0	0	1	10903	1074	38	1		1	OR10G8	11	123900713	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	5127739	123900713	11105803	116	108929											
VWF	7450	broad.mit.edu	37	chr12	6103352	6103352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgaagtcattggctcCgttctcatcacagatcccta	7	13	3	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr12:6103352C>T	uc001qnn.1	-	37	6524	c.6274G>A	c.(6274-6276)GGA>AGA	p.G2092R	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2092	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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	TCATTGGCTCCGTTCTCATCA	0.493													T	6103352	C	T	6103352	3	4	196	1	0	0	0	0	1	0	0	0	17243	661	23	1	2231	1	VWF	12	6103352	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08		6103352	127748543	117	108930											
FGD6	55785	broad.mit.edu	37	chr12	95602789	95602789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagttctcgtactctggTatttcctcataatggcgtat	9	9	3	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr12:95602789T>C	uc001tdp.3	-	2	2495	c.2271A>G	c.(2269-2271)ATA>ATG	p.I757M	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	757					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			ovary(2)|breast(1)	3						CGTACTCTGGTATTTCCTCAT	0.453													C	95602789	T	C	95602789	3	2	196	1	0	0	0	0	1	0	0	0	5837	1628	57	3	2101	3	FGD6	12	95602789	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	89499437	95602789	38249106	118	108931											
BRAP	8315	broad.mit.edu	37	chr12	112119630	112119630	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcttccactgtagttTttagttcatctttcaccagt	4	11	4	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr12:112119630T>A	uc001tsn.3	-	3	448	c.254A>T	c.(253-255)AAA>ATA	p.K85I	BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Missense_Mutation_p.K55I	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	85					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			lung(1)	1						CACTGTAGTTTTTAGTTCATC	0.383													A	112119630	T	A	112119630	3	1	196	1	0	0	0	0	1	0	0	0	1497	1841	64	5	1564	5	BRAP	12	112119630	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	16516841	112119630	21732265	119	108932											
SRRM4	84530	broad.mit.edu	37	chr12	119592119	119592119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcgcgtcggagacgtcGgtcctactcgcctatgagaa	14	12	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr12:119592119G>A	uc001txa.1	+	12	1755	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	488	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CGGAGACGTCGGTCCTACTCG	0.672													A	119592119	G	A	119592119	3	1	196	1	0	0	0	0	1	0	0	0	15170	1116	39	1	1509	1	SRRM4	12	119592119	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	7472489	119592119	14259776	120	108933											
KNTC1	9735	broad.mit.edu	37	chr12	123087726	123087726	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accatcgaatcctgcttactCtctatagtcaacccagagtg	6	13	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr12:123087726C>T	uc001ucv.2	+	48	5200	c.5037C>T	c.(5035-5037)CTC>CTT	p.L1679L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1679					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		CCTGCTTACTCTCTATAGTCA	0.408													T	123087726	C	T	123087726	2	4	196	1	0	0	0	0	0	0	0	1	8428	900	32	4		4	KNTC1	12	123087726	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	3495607	123087726	10764169	121	108934											
FZD10	11211	broad.mit.edu	37	chr12	130647946	130647946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatggaggcgcccaacaaCggctcggacgagcccacccg	13	16	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr12:130647946C>T	uc001uii.2	+	1	915	c.459C>T	c.(457-459)AAC>AAT	p.N153N	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	153	Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		CGCCCAACAACGGCTCGGACG	0.637													T	130647946	C	T	130647946	2	4	196	1	0	0	0	0	0	0	0	1	6129	535	19	1		1	FZD10	12	130647946	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	7560220	130647946	3203949	122	108935											
KBTBD7	84078	broad.mit.edu	37	chr13	41768160	41768160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaggaaaagaggcgaccCgtgccaggcccgctgccagg	15	13	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr13:41768160C>T	uc001uxw.1	-	1	543	c.234G>A	c.(232-234)ACG>ACA	p.T78T	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	78	BTB.						protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGAGGCGACCCGTGCCAGGCC	0.612													T	41768160	C	T	41768160	2	4	196	1	0	0	0	0	0	0	0	1	7998	639	23	1		1	KBTBD7	13	41768160	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08		41768160	73401718	123	108936											
PCDH17	27253	broad.mit.edu	37	chr13	58207716	58207716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagctcatcgaccgcaacGacaatgcgccgtccatcggt	9	15	2	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr13:58207716G>A	uc001vhq.1	+	1	1928	c.1036G>A	c.(1036-1038)GAC>AAC	p.D346N	PCDH17_uc010aec.1_Missense_Mutation_p.D346N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	346	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACCGCAACGACAATGCGCC	0.662													A	58207716	G	A	58207716	3	1	196	1	0	0	0	0	1	0	0	0	11512	1058	37	1	1038	1	PCDH17	13	58207716	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	16439556	58207716	56962162	124	108937											
MYCBP2	23077	broad.mit.edu	37	chr13	77785411	77785411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccactttatttatcagaaGgcatttaaatggaggaggtt	9	5	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr13:77785411G>A	uc001vkf.2	-	24	3284	c.3193C>T	c.(3193-3195)CTT>TTT	p.L1065F	MYCBP2_uc010aev.2_Missense_Mutation_p.L469F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1065					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTATCAGAAGGCATTTAAAT	0.289													A	77785411	G	A	77785411	3	1	196	1	0	0	0	0	1	0	0	0	10018	1000	35	4	10973	4	MYCBP2	13	77785411	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	19577695	77785411	37384467	125	108938											
GPC6	10082	broad.mit.edu	37	chr13	95050742	95050742	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttgcctgagatcatgaatGatgggctcaccaaccagatc	9	11	2	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr13:95050742G>A	uc001vlt.2	+	8	1944	c.1312G>A	c.(1312-1314)GAT>AAT	p.D438N		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	438						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	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)				GATCATGAATGATGGGCTCAC	0.498													A	95050742	G	A	95050742	3	1	196	1	0	0	0	0	1	0	0	0	6602	1290	45	4	1342	4	GPC6	13	95050742	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	17265331	95050742	20119136	126	108939											
MYO16	23026	broad.mit.edu	37	chr13	109475609	109475609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcattcacgatcttccCgtactgtcgagtaagctgta	9	10	3	1	rs141132835	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr13:109475609C>T	uc001vqt.1	+	9	1140	c.1014C>T	c.(1012-1014)CCC>CCT	p.P338P	MYO16_uc010agk.1_Silent_p.P360P|MYO16_uc001vqu.1_Silent_p.P138P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	338					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	p.P338T(1)		ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			ACGATCTTCCCGTACTGTCGA	0.428													T	109475609	C	T	109475609	2	4	196	1	0	0	0	0	0	0	0	1	10064	639	23	1		1	MYO16	13	109475609	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	14424867	109475609	5694269	127	108940											
TEP1	7011	broad.mit.edu	37	chr14	20876371	20876371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggcactggttctccaaGgagaggatgtctgggtgggc	17	9	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr14:20876371G>A	uc001vxe.2	-	2	268	c.228C>T	c.(226-228)TCC>TCT	p.S76S	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.S76S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	76	TEP1 N-terminal 3.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		GGTTCTCCAAGGAGAGGATGT	0.522													A	20876371	G	A	20876371	2	1	196	1	0	0	0	0	0	0	0	1	15756	987	35	4		4	TEP1	14	20876371	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08		20876371	86473169	128	108941											
FAM179B	23116	broad.mit.edu	37	chr14	45431744	45431744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatagtcgagttgggggCattatgagaggagagaaaaa	16	2	0	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr14:45431744C>T	uc001wvv.2	+	1	329	c.120C>T	c.(118-120)GGC>GGT	p.G40G	FAM179B_uc001wvw.2_Silent_p.G40G|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.G40G|FAM179B_uc001wvu.2_Silent_p.G40G	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	40							binding			skin(2)|upper_aerodigestive_tract(1)	3						GAGTTGGGGGCATTATGAGAG	0.602													T	45431744	C	T	45431744	2	4	196	1	0	0	0	0	0	0	0	1	5506	697	25	2		2	FAM179B	14	45431744	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	24555373	45431744	61917796	129	108942											
TRIM9	114088	broad.mit.edu	37	chr14	51561331	51561331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtgacaagtgggtggcCggtggcggcatagccggggg	22	9	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr14:51561331C>T	uc001wyx.3	-	1	1092	c.327G>A	c.(325-327)CCG>CCA	p.P109P	TRIM9_uc001wyy.2_Silent_p.P109P|TRIM9_uc001wyz.3_Silent_p.P109P	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	109					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					AGTGGGTGGCCGGTGGCGGCA	0.711													T	51561331	C	T	51561331	2	4	196	1	0	0	0	0	0	0	0	1	16546	639	23	1		1	TRIM9	14	51561331	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	6129587	51561331	55788209	130	108943											
ADAM20	8748	broad.mit.edu	37	chr14	70991149	70991149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacataaccatggtagtagCagtcatcctggatgaagggc	11	10	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr14:70991149C>T	uc001xme.2	-	2	721	c.476G>A	c.(475-477)TGC>TAC	p.C159Y		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	109				C -> W (in Ref. 1; AAC52041).	proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			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)		ATGGTAGTAGCAGTCATCCTG	0.502													T	70991149	C	T	70991149	3	4	196	1	0	0	0	0	1	0	0	0	242	710	25	2	1858	2	ADAM20	14	70991149	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	19429818	70991149	36358391	131	108944											
UBE3A	7337	broad.mit.edu	37	chr15	25605639	25605639	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccacatacaactgcttcttCaagtctgcaggattttccat	5	12	3	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr15:25605639C>T	uc001zaq.2	-	5	1653	c.1653G>A	c.(1651-1653)TTG>TTA	p.L551L	uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.L528L|UBE3A_uc001zas.2_Silent_p.L548L|UBE3A_uc001zat.2_Silent_p.L528L	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	551					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		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)		ACTGCTTCTTCAAGTCTGCAG	0.363													T	25605639	C	T	25605639	2	4	196	1	0	0	0	0	0	0	0	1	16876	825	29	4		4	UBE3A	15	25605639	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08		25605639	76925753	132	108945											
MYEF2	50804	broad.mit.edu	37	chr15	48451038	48451038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgctcttgccatctttgtCttctttaatatctgcccgct	5	13	6	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr15:48451038C>T	uc001zwi.3	-	7	923	c.799G>A	c.(799-801)GAC>AAC	p.D267N	MYEF2_uc001zwj.3_Missense_Mutation_p.D267N|MYEF2_uc001zwl.2_Missense_Mutation_p.D107N	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	267	RRM 2.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCATCTTTGTCTTCTTTAATA	0.383													T	48451038	C	T	48451038	3	4	196	1	0	0	0	0	1	0	0	0	10024	913	32	4	1047	4	MYEF2	15	48451038	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	22845399	48451038	54080354	133	108946											
MPI	4351	broad.mit.edu	37	chr15	75183769	75183769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagatccttgacaaccGcatctcacagaagaccctaa	6	14	1	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr15:75183769G>A	uc002azc.1	+	3	199	c.194G>A	c.(193-195)CGC>CAC	p.R65H	MPI_uc010ulv.1_Missense_Mutation_p.R65H|MPI_uc010ulw.1_Missense_Mutation_p.R15H|MPI_uc002azd.1_Missense_Mutation_p.R65H|MPI_uc010ulx.1_Missense_Mutation_p.R15H|MPI_uc002aze.1_Missense_Mutation_p.R65H	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	65					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			ovary(2)	2						CTTGACAACCGCATCTCACAG	0.552													A	75183769	G	A	75183769	3	1	196	1	0	0	0	0	1	0	0	0	9729	1087	38	1	204	1	MPI	15	75183769	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	26732731	75183769	27347623	134	108947											
C15orf42	90381	broad.mit.edu	37	chr15	90169262	90169262	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgttccaggggaaaAcaccttcctctcagagcaaa	9	13	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr15:90169262A>T	uc002boe.2	+	21	5572	c.5572A>T	c.(5572-5574)ACA>TCA	p.T1858S	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1858					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGGGGAAAACACCTTCCTC	0.577													T	90169262	A	T	90169262	3	4	196	1	0	0	0	0	1	0	0	0	1796	43	2	5	5654	5	C15orf42	15	90169262	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	14985493	90169262	12362130	135	108948											
TRAF7	84231	broad.mit.edu	37	chr16	2226124	2226124	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accgtgtatgccctggcggtCatctcgacgccagaccagac	11	15	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr16:2226124C>T	uc002cow.2	+	19	1920	c.1821C>T	c.(1819-1821)GTC>GTT	p.V607V		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	607	WD 6.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCCTGGCGGTCATCTCGACGC	0.667													T	2226124	C	T	2226124	2	4	196	1	0	0	0	0	0	0	0	1	16443	813	29	4		4	TRAF7	16	2226124	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08		2226124	88128629	136	108949											
NAGPA	51172	broad.mit.edu	37	chr16	5077160	5077160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaggagagttctcccGccctcagggtggcttcaggt	13	10	3	2	rs145106222		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr16:5077160G>A	uc002cyg.2	-	9	1337	c.1316C>T	c.(1315-1317)GCG>GTG	p.A439V	NAGPA_uc010buc.2_Missense_Mutation_p.A136V|NAGPA_uc002cyf.2_Intron|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Missense_Mutation_p.A214V	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	439	Lumenal (Potential).				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				0					N-Acetyl-D-glucosamine(DB00141)	GAGTTCTCCCGCCCTCAGGGT	0.622													A	5077160	G	A	5077160	3	1	196	1	0	0	0	0	1	0	0	0	10144	1087	38	1	239	1	NAGPA	16	5077160	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2851036	5077160	85277593	137	108950											
MAZ	4150	broad.mit.edu	37	chr16	29818144	29818144	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtcacgcccagaaccCcctgcaggtcggggctgagc	14	15	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr16:29818144C>G	uc002dty.2	+	1	290	c.122C>G	c.(121-123)CCC>CGC	p.P41R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Missense_Mutation_p.P18R|MAZ_uc010vdx.1_Missense_Mutation_p.P18R|MAZ_uc002dtw.2_Missense_Mutation_p.P41R|MAZ_uc002dtx.2_Missense_Mutation_p.P41R|MAZ_uc010bzg.2_Missense_Mutation_p.P41R|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	41					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			ovary(1)	1						GCCCAGAACCCCCTGCAGGTC	0.617													G	29818144	C	G	29818144	3	3	196	1	0	0	0	0	1	0	0	0	9340	623	22	5	124	5	MAZ	16	29818144	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	24740984	29818144	60536609	138	108951											
MVD	4597	broad.mit.edu	37	chr16	88722698	88722698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctccacgccgtagacacGggccagggtgtaggctgcag	14	13	1	1	rs143689631		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr16:88722698G>A	uc002flg.1	-	5	425	c.418C>T	c.(418-420)CGT>TGT	p.R140C	MVD_uc002flf.1_Missense_Mutation_p.R9C	NM_002461	NP_002452	P53602	MVD1_HUMAN	diphosphomevalonate decarboxylase	140					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCGTAGACACGGGCCAGGGTG	0.667													A	88722698	G	A	88722698	3	1	196	1	0	0	0	0	1	0	0	0	9994	1116	39	1	808	1	MVD	16	88722698	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	58904554	88722698	1632055	139	108952											
POLR2A	5430	broad.mit.edu	37	chr17	7416391	7416391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctgcctacgagccccGctctcctgggggctacacac	10	18	2	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:7416391G>A	uc002ghf.3	+	29	5042	c.4808G>A	c.(4807-4809)CGC>CAC	p.R1603H		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1603	2; approximate.|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			pancreas(1)	1		Prostate(122;0.173)				TACGAGCCCCGCTCTCCTGGG	0.582													A	7416391	G	A	7416391	3	1	196	1	0	0	0	0	1	0	0	0	12214	1087	38	1	4922	1	POLR2A	17	7416391	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		7416391	73778819	140	108953											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:7578190T>C	uc002gim.2	-	6	853	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	220	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			C	7578190	T	C	7578190	3	2	196	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08	161799	7578190	73617020	141	108954											
SLFN5	162394	broad.mit.edu	37	chr17	33591890	33591890	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccggctaacattctctacatCtgtgaaaaccagcccctgaa	6	14	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:33591890C>T	uc002hjf.3	+	4	1944	c.1827C>T	c.(1825-1827)ATC>ATT	p.I609I	SLFN5_uc010wcg.1_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	609					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TTCTCTACATCTGTGAAAACC	0.448													T	33591890	C	T	33591890	2	4	196	1	0	0	0	0	0	0	0	1	14737	903	32	4		4	SLFN5	17	33591890	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	26013700	33591890	47603320	142	108955											
SLFN12	55106	broad.mit.edu	37	chr17	33749495	33749495	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaagttctgttctatcaaAaaaaaccccggccaaggcct	6	12	4	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:33749495A>T	uc002hji.3	-	2	930	c.553T>A	c.(553-555)TTT>ATT	p.F185I	SLFN12_uc002hjj.3_Missense_Mutation_p.F185I|SLFN12_uc010cts.2_Missense_Mutation_p.F185I	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCTATCAAAAAAAACCCCG	0.373													T	33749495	A	T	33749495	3	4	196	1	0	0	0	0	1	0	0	0	14734	14	1	5	1195	5	SLFN12	17	33749495	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	157605	33749495	47445715	143	108956											
GAS2L2	246176	broad.mit.edu	37	chr17	34073428	34073428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagagacctctcctggCacctgaaagggagaatcaca	12	10	2	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:34073428C>T	uc002hjv.1	-	6	1116	c.1088G>A	c.(1087-1089)TGC>TAC	p.C363Y		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	363					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCTCCTGGCACCTGAAAGG	0.592													T	34073428	C	T	34073428	3	4	196	1	0	0	0	0	1	0	0	0	6247	710	25	2	1558	2	GAS2L2	17	34073428	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	323933	34073428	47121782	144	108957											
MMP28	79148	broad.mit.edu	37	chr17	34100224	34100224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccagcccatcgttgtggtCcccttggaagaaggtgagcc	13	13	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:34100224C>T	uc002hjy.1	-	6	824	c.565G>A	c.(565-567)GAC>AAC	p.D189N	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	189					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGTTGTGGTCCCCTTGGAAG	0.637													T	34100224	C	T	34100224	3	4	196	1	0	0	0	0	1	0	0	0	9665	842	30	4	1017	4	MMP28	17	34100224	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	26796	34100224	47094986	145	108958											
TAF15	8148	broad.mit.edu	37	chr17	34171858	34171858	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggaggttatggaggagatCgaggaggctatggaggagac	20	3	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:34171858C>T	uc002hkd.2	+	15	1641	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	TAF15_uc002hkc.2_Nonsense_Mutation_p.R516*	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	519	Arg/Gly-rich.|15.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		tggaggagatcgaggaggcta	0.259			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								T	34171858	C	T	34171858	4	4	196	1	0	0	0	0	0	1	0	0	15515	876	31	1	1613	1	TAF15	17	34171858	Nonsense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	71634	34171858	47023352	146	108959											
LYZL6	57151	broad.mit.edu	37	chr17	34263807	34263807	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcctttttgcgcagtggAtgcctgcaagaaggttggga	13	8	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:34263807A>C	uc002hkj.1	-	3	479	c.329T>G	c.(328-330)ATC>AGC	p.I110S	LYZL6_uc002hkk.1_Missense_Mutation_p.I110S	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	110					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCGCAGTGGATGCCTGCAAG	0.577													C	34263807	A	C	34263807	3	2	196	1	0	0	0	0	1	0	0	0	9134	333	12	5	125	5	LYZL6	17	34263807	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	91949	34263807	46931403	147	108960											
STARD3	10948	broad.mit.edu	37	chr17	37815008	37815008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaggttgctgttgcccgtgGacccctgctgttctccggtg	13	14	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:37815008G>T	uc002hsd.2	+	7	705	c.581G>T	c.(580-582)GGA>GTA	p.G194V	STARD3_uc010weg.1_3'UTR|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.G176V|STARD3_uc010wei.1_Missense_Mutation_p.G194V|STARD3_uc002hsf.2_Missense_Mutation_p.G60V|STARD3_uc002hsg.2_Intron	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	194	MENTAL.|Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	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)			GTTGCCCGTGGACCCCTGCTG	0.627													T	37815008	G	T	37815008	3	4	196	1	0	0	0	0	1	0	0	0	15256	1174	41	5	616	5	STARD3	17	37815008	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	3551201	37815008	43380202	148	108961											
ERBB2	2064	broad.mit.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttctacggacgtgggatCctgcaccctcgtctgccccc	9	18	2	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:37868208C>T	uc002hso.2	+	8	1167	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	Extracellular (Potential).				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(2)|p.S310Y(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)			T	37868208	C	T	37868208	3	4	196	1	0	0	0	0	1	0	0	0	5206	855	30	4	959	4	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	53200	37868208	43327002	149	108962											
KRT38	8687	broad.mit.edu	37	chr17	39596697	39596697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttctgttggagctcCtcgatggtgtggaagtaaga	12	9	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:39596697C>T	uc002hwq.1	-	1	900	c.477G>A	c.(475-477)GAG>GAA	p.E159E		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	159	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				GTTGGAGCTCCTCGATGGTGT	0.567													T	39596697	C	T	39596697	2	4	196	1	0	0	0	0	0	0	0	1	8475	680	24	4		4	KRT38	17	39596697	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	1728489	39596697	41598513	150	108963											
HDAC5	10014	broad.mit.edu	37	chr17	42171083	42171083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagttgctgctcccGcagtgtggggtccacagagc	14	13	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:42171083G>A	uc002ifd.1	-	4	425	c.214C>T	c.(214-216)CGG>TGG	p.R72W	HDAC5_uc002ife.1_Missense_Mutation_p.R72W|HDAC5_uc002iff.1_Missense_Mutation_p.R73W|HDAC5_uc010czp.1_Missense_Mutation_p.R72W|HDAC5_uc002ifh.2_Missense_Mutation_p.R72W	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	72					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			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		tgctgctcccgcAGTGTGGGG	0.438													A	42171083	G	A	42171083	3	1	196	1	0	0	0	0	1	0	0	0	7010	1086	38	1	3250	1	HDAC5	17	42171083	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2574386	42171083	39024127	151	108964											
TBKBP1	9755	broad.mit.edu	37	chr17	45776813	45776813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagctccaggccgagtgCgagcggctgcagggggagct	19	11	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:45776813C>T	uc002ilu.2	+	5	1611	c.762C>T	c.(760-762)TGC>TGT	p.C254C		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	254	Potential.				innate immune response						0						AGGCCGAGTGCGAGCGGCTGC	0.701											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45776813	C	T	45776813	2	4	196	1	0	0	0	0	0	0	0	1	15635	776	27	1		1	TBKBP1	17	45776813	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	3605730	45776813	35418397	152	108965											
ABCA5	23461	broad.mit.edu	37	chr17	67280173	67280173	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggaaacaccataagaaatGacacccaaatttgaatgact	6	8	0	4			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:67280173G>T	uc002jif.2	-	17	3531	c.2313C>A	c.(2311-2313)GTC>GTA	p.V771V	ABCA5_uc002jic.2_5'UTR|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.V771V|ABCA5_uc002jih.2_Silent_p.V771V|ABCA5_uc010dfe.2_Silent_p.V771V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	771					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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					CATAAGAAATGACACCCAAAT	0.303													T	67280173	G	T	67280173	2	4	196	1	0	0	0	0	0	0	0	1	35	1277	45	5		5	ABCA5	17	67280173	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	21503360	67280173	13915037	153	108966											
GGA3	23163	broad.mit.edu	37	chr17	73235959	73235959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggtgcccagggactgcGggctcaacttttggggccaa	14	12	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:73235959G>A	uc002jni.1	-	13	1503	c.1494C>T	c.(1492-1494)CCC>CCT	p.P498P	GGA3_uc002jnj.1_Silent_p.P465P|GGA3_uc010wrw.1_Silent_p.P376P|GGA3_uc002jnk.1_Silent_p.P426P|GGA3_uc010wrx.1_Silent_p.P376P|GGA3_uc010wry.1_Silent_p.P426P	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	498	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAGGGACTGCGGGCTCAACTT	0.617													A	73235959	G	A	73235959	2	1	196	1	0	0	0	0	0	0	0	1	6354	1103	39	1		1	GGA3	17	73235959	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	5955786	73235959	7959251	154	108967											
EVPL	2125	broad.mit.edu	37	chr17	74003189	74003189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccttggcccgtgtcagcGaagggagcgcgggacggtgg	19	11	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr17:74003189G>A	uc002jqi.2	-	22	6325	c.6097C>T	c.(6097-6099)CGC>TGC	p.R2033C	EVPL_uc010wss.1_Missense_Mutation_p.R2055C|EVPL_uc010wst.1_Missense_Mutation_p.R1503C	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	2033	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCGTGTCAGCGAAGGGAGCGC	0.677													A	74003189	G	A	74003189	3	1	196	1	0	0	0	0	1	0	0	0	5292	1058	37	1	8	1	EVPL	17	74003189	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	767230	74003189	7192021	155	108968											
THOC1	9984	broad.mit.edu	37	chr18	265478	265478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggtacctggctgaagGtacttaacaatggcttgatg	12	8	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr18:265478G>A	uc002kkj.3	-	2	147	c.107C>T	c.(106-108)ACC>ATC	p.T36I	THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.T36I	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	36					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTGGCTGAAGGTACTTAACAA	0.343													A	265478	G	A	265478	3	1	196	1	0	0	0	0	1	0	0	0	15861	1261	44	4	1946	4	THOC1	18	265478	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		265478	77811770	156	108969											
ASXL3	80816	broad.mit.edu	37	chr18	31324706	31324706	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgggttcaagtaaacaaaaaGaatatctagagcaaagctgt	9	6	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr18:31324706G>A	uc010dmg.1	+	12	4949	c.4894G>A	c.(4894-4896)GAA>AAA	p.E1632K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1339K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TAAACAAAAAGAATATCTAGA	0.428											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	31324706	G	A	31324706	3	1	196	1	0	0	0	0	1	0	0	0	1068	943	33	4	4940	4	ASXL3	18	31324706	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	31059228	31324706	46752542	157	108970											
PIK3C3	5289	broad.mit.edu	37	chr18	39575919	39575919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtggaccttctgaccaCgatctgaaacccaatgctgc	9	12	2	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr18:39575919C>T	uc002lap.2	+	8	910	c.852C>T	c.(850-852)CAC>CAT	p.H284H	PIK3C3_uc010xcl.1_Silent_p.H221H	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	284					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			lung(8)|ovary(1)|breast(1)	10						CTTCTGACCACGATCTGAAAC	0.343										TSP Lung(28;0.18)			T	39575919	C	T	39575919	2	4	196	1	0	0	0	0	0	0	0	1	11912	535	19	1		1	PIK3C3	18	39575919	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	8251213	39575919	38501329	158	108971											
CASP14	23581	broad.mit.edu	37	chr19	15166303	15166303	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccagaccctggtggatgtgTtcacgaagaggaaaggacat	13	8	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:15166303T>A	uc010dzv.1	+	6	891	c.583T>A	c.(583-585)TTC>ATC	p.F195I	CASP14_uc002naf.2_Missense_Mutation_p.F195I	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	195					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.F195Y(1)		skin(2)|ovary(1)|lung(1)	4						GGTGGATGTGTTCACGAAGAG	0.542													A	15166303	T	A	15166303	3	1	196	1	0	0	0	0	1	0	0	0	2670	1725	60	5	601	5	CASP14	19	15166303	Missense_Mutation	SNP	T	TCGA-CG-5730-01A-11D-1600-08		15166303	43962680	159	108972											
ZNF99	7652	broad.mit.edu	37	chr19	22940729	22940729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatgtctagtaaggtgtgagGaccacttaaaagctttacca	9	7	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:22940729G>T	uc010xrh.1	-	5	1709	c.1709C>A	c.(1708-1710)TCC>TAC	p.S570Y		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGTGTGAGGACCACTTAAA	0.378													T	22940729	G	T	22940729	3	4	196	1	0	0	0	0	1	0	0	0	18201	1174	41	5	1415	5	ZNF99	19	22940729	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	7774426	22940729	36188254	160	108973											
PSG5	5673	broad.mit.edu	37	chr19	43680066	43680066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgcgcatgccaccatctCggtcccgtatttcacattca	6	16	3	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:43680066C>T	uc002ovu.2	-	3	796	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Missense_Mutation_p.R222Q|PSG5_uc002ovv.2_Missense_Mutation_p.R315Q|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	222	Ig-like C2-type 1.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				GCCACCATCTCGGTCCCGTAT	0.493													T	43680066	C	T	43680066	3	4	196	1	0	0	0	0	1	0	0	0	12658	884	31	1	354	1	PSG5	19	43680066	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	20739337	43680066	15448917	161	108974											
GEMIN7	79760	broad.mit.edu	37	chr19	45593700	45593700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgtgtcacagctgcagactCccataggtgtgcaagcagag	12	11	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:45593700C>T	uc002pap.1	+	3	479	c.328C>T	c.(328-330)CCC>TCC	p.P110S	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.P110S|GEMIN7_uc002par.1_Missense_Mutation_p.P110S	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	110					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GCTGCAGACTCCCATAGGTGT	0.517													T	45593700	C	T	45593700	3	4	196	1	0	0	0	0	1	0	0	0	6333	855	30	4	330	4	GEMIN7	19	45593700	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	1913634	45593700	13535283	162	108975											
RTN2	6253	broad.mit.edu	37	chr19	45997638	45997638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggggagtcaagacctcGggcgatgagggctgagcaag	18	8	1	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:45997638G>A	uc002pcb.2	-	4	828	c.600C>T	c.(598-600)CCC>CCT	p.P200P	RTN2_uc002pcc.2_Silent_p.P200P|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	200						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCAAGACCTCGGGCGATGAGG	0.617													A	45997638	G	A	45997638	2	1	196	1	0	0	0	0	0	0	0	1	13726	1103	39	1		1	RTN2	19	45997638	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	403938	45997638	13131345	163	108976											
CABP5	56344	broad.mit.edu	37	chr19	48543884	48543884	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatgcggatttgctggccGagctcaatcagttccatctc	9	12	4	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:48543884G>A	uc002phu.1	-	3	341	c.216C>T	c.(214-216)CTC>CTT	p.L72L		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	72	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			skin(1)	1		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													A	48543884	G	A	48543884	2	1	196	1	0	0	0	0	0	0	0	1	2534	1045	37	1		1	CABP5	19	48543884	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2546246	48543884	10585099	164	108977											
DKKL1	27120	broad.mit.edu	37	chr19	49867939	49867939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctatccatgatgctgaCgcccaagagagctccttggg	11	13	0	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:49867939C>T	uc002pnk.2	+	2	325	c.111C>T	c.(109-111)GAC>GAT	p.D37D	TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank	NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	37					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity				0		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)		ATGATGCTGACGCCCAAGAGA	0.627													T	49867939	C	T	49867939	2	4	196	1	0	0	0	0	0	0	0	1	4548	535	19	1		1	DKKL1	19	49867939	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	1324055	49867939	9261044	165	108978											
PRR12	57479	broad.mit.edu	37	chr19	50103130	50103130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgcccttggcccccgCggctgcagttccagggccac	14	18	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:50103130C>T	uc002poo.3	+	5	4280	c.4280C>T	c.(4279-4281)GCG>GTG	p.A1427V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	606	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTGGCCCCCGCGGCTGCAGTT	0.662													T	50103130	C	T	50103130	3	4	196	1	0	0	0	0	1	0	0	0	12584	768	27	1	4298	1	PRR12	19	50103130	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	235191	50103130	9025853	166	108979											
ZNF578	147660	broad.mit.edu	37	chr19	53015310	53015310	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatctggcaaaccatactaGaattcatagcggagagaaac	8	8	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:53015310G>A	uc002pzp.3	+	6	1920	c.1676G>A	c.(1675-1677)AGA>AAA	p.R559K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	334	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACCATACTAGAATTCATAGC	0.393													A	53015310	G	A	53015310	3	1	196	1	0	0	0	0	1	0	0	0	18007	942	33	4	1686	4	ZNF578	19	53015310	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2912180	53015310	6113673	167	108980											
ZNF583	147949	broad.mit.edu	37	chr19	56925784	56925784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctggatggtgaagaaGgagggaacaagaggcccatg	17	7	0	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:56925784G>A	uc010ygl.1	+	4	372	c.207G>A	c.(205-207)AAG>AAA	p.K69K	ZNF583_uc002qnc.2_Silent_p.K69K|ZNF583_uc010ygm.1_Silent_p.K69K	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGGTGAAGAAGGAGGGAACAA	0.448													A	56925784	G	A	56925784	2	1	196	1	0	0	0	0	0	0	0	1	18012	991	35	4		4	ZNF583	19	56925784	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	3910474	56925784	2203199	168	108981											
ZNF211	10520	broad.mit.edu	37	chr19	58152366	58152366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttatgtggacactgcctCgtttacacagagttgcatag	10	8	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr19:58152366C>T	uc002qpq.2	+	3	692	c.512C>T	c.(511-513)TCG>TTG	p.S171L	ZNF211_uc010yhb.1_Missense_Mutation_p.S175L|ZNF211_uc002qpp.2_Missense_Mutation_p.S184L|ZNF211_uc002qpr.2_Missense_Mutation_p.S235L|ZNF211_uc002qps.2_Missense_Mutation_p.S236L|ZNF211_uc002qpt.2_Missense_Mutation_p.S183L|ZNF211_uc010yhc.1_Missense_Mutation_p.S183L|ZNF211_uc010yhd.1_Missense_Mutation_p.S110L|ZNF211_uc010yhe.1_Missense_Mutation_p.S162L	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		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)		GACACTGCCTCGTTTACACAG	0.468													T	58152366	C	T	58152366	3	4	196	1	0	0	0	0	1	0	0	0	17764	893	31	1	565	1	ZNF211	19	58152366	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	1226582	58152366	976617	169	108982											
FAM110A	83541	broad.mit.edu	37	chr20	826057	826057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccgctgatctcgagCgcttttttaacttctgcggc	12	12	2	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:826057C>T	uc002wef.1	+	2	946	c.610C>T	c.(610-612)CGC>TGC	p.R204C	FAM110A_uc002weg.1_Missense_Mutation_p.R204C|FAM110A_uc002weh.1_Missense_Mutation_p.R204C|FAM110A_uc010fzz.2_RNA	NM_001042353	NP_001035812	Q9BQ89	F110A_HUMAN	hypothetical protein LOC83541	204						microtubule organizing center|spindle pole	protein binding				0						TGATCTCGAGCGCTTTTTTAA	0.537													T	826057	C	T	826057	3	4	196	1	0	0	0	0	1	0	0	0	5396	768	27	1	612	1	FAM110A	20	826057	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08		826057	62199463	170	108983											
AVP	551	broad.mit.edu	37	chr20	3065299	3065299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaggccgaggaagcaggCgggcagcatggtgtcaggca	18	9	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:3065299C>T	uc002whu.2	-	1	72	c.22G>A	c.(22-24)GCC>ACC	p.A8T		NM_000490	NP_000481	P01185	NEU2_HUMAN	arginine vasopressin-neurophysin II	8					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding				0				COAD - Colon adenocarcinoma(99;0.00643)		AGGAAGCAGGCGGGCAGCATG	0.627													T	3065299	C	T	3065299	3	4	196	1	0	0	0	0	1	0	0	0	1229	768	27	1	484	1	AVP	20	3065299	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2239242	3065299	59960221	171	108984											
CHGB	1114	broad.mit.edu	37	chr20	5905665	5905665	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggatttggaactacagaaGatagctgagaaattcagcca	10	6	1	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:5905665G>T	uc002wmg.2	+	5	2310	c.2004G>T	c.(2002-2004)AAG>AAT	p.K668N	CHGB_uc010zqz.1_Missense_Mutation_p.K351N	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	668						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						AACTACAGAAGATAGCTGAGA	0.438													T	5905665	G	T	5905665	3	4	196	1	0	0	0	0	1	0	0	0	3339	933	33	5	2022	5	CHGB	20	5905665	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	2840366	5905665	57119855	172	108985											
C20orf12	55184	broad.mit.edu	37	chr20	18395078	18395078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcacacaaataccacAggagccacagaatcgggcag	10	12	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:18395078A>G	uc010zsa.1	-	12	1422	c.1213T>C	c.(1213-1215)TGT>CGT	p.C405R	C20orf12_uc010zrz.1_5'Flank|C20orf12_uc002wqp.3_Missense_Mutation_p.C96R|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.C272R|C20orf12_uc002wqq.3_Missense_Mutation_p.C386R|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	213						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				CAAATACCACAGGAGCCACAG	0.522													G	18395078	A	G	18395078	3	3	196	1	0	0	0	0	1	0	0	0	2085	188	7	3	1142	3	C20orf12	20	18395078	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	12489413	18395078	44630442	173	108986											
TMEM90B	79953	broad.mit.edu	37	chr20	24524024	24524024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcctctattcagagggCgtgctgcgctcctgggggga	14	11	3	1	rs146291718	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:24524024C>T	uc002wtw.1	+	2	924	c.291C>T	c.(289-291)GGC>GGT	p.G97G		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	97	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						ATTCAGAGGGCGTGCTGCGCT	0.652													T	24524024	C	T	24524024	2	4	196	1	0	0	0	0	0	0	0	1	16216	755	27	1		1	TMEM90B	20	24524024	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	6128946	24524024	38501496	174	108987											
EMILIN3	90187	broad.mit.edu	37	chr20	39992409	39992409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaggtgctcagggcagCgtttcccagtgaagccggga	16	11	1	2	rs143410015		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:39992409C>T	uc002xjy.1	-	3	607	c.383G>A	c.(382-384)CGC>CAC	p.R128H		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	128	EMI.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CTCAGGGCAGCGTTTCCCAGT	0.632													T	39992409	C	T	39992409	3	4	196	1	0	0	0	0	1	0	0	0	5095	768	27	1	1925	1	EMILIN3	20	39992409	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	15468385	39992409	23033111	175	108988											
PI3	5266	broad.mit.edu	37	chr20	43804672	43804672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattatcttgatccggtgcGccatgttgaatccccctaac	7	14	1	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:43804672G>A	uc002xng.2	+	2	274	c.250G>A	c.(250-252)GCC>ACC	p.A84T		NM_002638	NP_002629	P19957	ELAF_HUMAN	elafin preproprotein	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512													A	43804672	G	A	43804672	3	1	196	1	0	0	0	0	1	0	0	0	11870	1087	38	1	256	1	PI3	20	43804672	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	3812263	43804672	19220848	176	108989											
GATA5	140628	broad.mit.edu	37	chr20	61040939	61040939	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttggcttccgcttccgtgtCtggatgctttccttcttcat	8	12	3	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr20:61040939C>T	uc002ycx.1	-	5	926	c.864G>A	c.(862-864)CAG>CAA	p.Q288Q		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	288					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCTTCCGTGTCTGGATGCTTT	0.682													T	61040939	C	T	61040939	2	4	196	1	0	0	0	0	0	0	0	1	6257	912	32	4		4	GATA5	20	61040939	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	17236267	61040939	1984581	177	108990											
RSPH1	89765	broad.mit.edu	37	chr21	43912907	43912907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggatatataaaagtgccttGaccgtgctttttatttctaa	7	6	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr21:43912907G>C	uc002zbg.2	-	3	340	c.235C>G	c.(235-237)CAA>GAA	p.Q79E		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	79	MORN 3.				meiosis	cytosol|nucleus				ovary(1)	1						AAAGTGCCTTGACCGTGCTTT	0.318													C	43912907	G	C	43912907	3	2	196	1	0	0	0	0	1	0	0	0	13702	1299	45	5	722	5	RSPH1	21	43912907	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		43912907	4216988	178	108991											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047148	46047148	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgactcctggcaggtggaCgactgcccagagagctgctg	14	13	0	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr21:46047148C>G	uc002zfp.3	+	1	109	c.60C>G	c.(58-60)GAC>GAG	p.D20E	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	20						keratin filament					0						GGCAGGTGGACGACTGCCCAG	0.667													G	46047148	C	G	46047148	3	3	196	1	0	0	0	0	1	0	0	0	8516	535	19	5	62	5	KRTAP10-9	21	46047148	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2134241	46047148	2082747	179	108992											
FBLN1	2192	broad.mit.edu	37	chr22	45914594	45914594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctggaggcctgctgtGcggacggacaccggatggcc	15	14	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chr22:45914594G>A	uc003bgj.1	+	2	259	c.112G>A	c.(112-114)GCG>ACG	p.A38T	FBLN1_uc003bgg.1_Missense_Mutation_p.A38T|FBLN1_uc003bgh.2_Missense_Mutation_p.A38T|FBLN1_uc010gzz.2_Missense_Mutation_p.A38T|FBLN1_uc003bgi.1_Missense_Mutation_p.A38T	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	38	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCCTGCTGTGCGGACGGACA	0.597													A	45914594	G	A	45914594	3	1	196	1	0	0	0	0	1	0	0	0	5698	1319	46	2	118	2	FBLN1	22	45914594	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		45914594	5389972	180	108993											
HCCS	3052	broad.mit.edu	37	chrX	11136637	11136637	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaggtggaagtggaaggatGaggatatcagtcagaaggat	16	3	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:11136637G>A	uc004cuk.2	+	5	684	c.418G>A	c.(418-420)GAG>AAG	p.E140K	HCCS_uc004cuj.2_Missense_Mutation_p.E140K|HCCS_uc004cul.1_Missense_Mutation_p.E140K	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	140					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						GTGGAAGGATGAGGATATCAG	0.353													A	11136637	G	A	11136637	3	1	196	1	0	0	0	0	1	0	0	0	6990	1291	45	4	432	4	HCCS	23	11136637	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08		11136637	144133923	181	108994											
CNKSR2	22866	broad.mit.edu	37	chrX	21609256	21609257	+	Frame_Shift_Ins	INS	-	-	A													ttacttttcacagaaatggaINSaaaaatattggtttgtccta							TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:21609255_21609256G>GA	uc004czx.2	+	14	2253_2254	c.1773_1774G>GA	c.(1771-1776)tggaaafs	p.W591fs	CNKSR2_uc004czw.3_Frame_Shift_Ins_p.W591fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.W542fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.W561fs|CNKSR2_uc004czy.3_Frame_Shift_Ins_p.W183fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	591	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.W591L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAATGGAAAAAATATTG	0.376													A	21609257	-	A	21609256	7	5	196	1	0	1	1	0	0	0	0	0	3607	247	9	0	1832	0	CNKSR2	23	21609256	Frame_Shift_Ins	INS	-	TCGA-CG-5730-01A-11D-1600-08	10472619	21609256	133661304	182	108995											
MAGEB6	158809	broad.mit.edu	37	chrX	26212461	26212461	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttcaggctcaaaataTgatgtggctgccgagggtga	15	6	2	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:26212461T>C	uc004dbr.2	+	2	647	c.498T>C	c.(496-498)TAT>TAC	p.Y166Y	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	166										ovary(3)	3						GCTCAAAATATGATGTGGCTG	0.493													C	26212461	T	C	26212461	2	2	196	1	0	0	0	0	0	0	0	1	9179	1471	51	3		3	MAGEB6	23	26212461	Silent	SNP	T	TCGA-CG-5730-01A-11D-1600-08	4603205	26212461	129058099	183	108996											
PORCN	64840	broad.mit.edu	37	chrX	48372643	48372643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtggctgcgagcctaCgagagtgctgtctccttcca	12	14	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:48372643C>T	uc010nie.1	+	9	893	c.735C>T	c.(733-735)TAC>TAT	p.Y245Y	PORCN_uc004djr.1_Silent_p.Y240Y|PORCN_uc004djs.1_Silent_p.Y234Y|PORCN_uc004djt.1_Silent_p.Y163Y|PORCN_uc011mlx.1_Silent_p.Y163Y|PORCN_uc004dju.1_Silent_p.Y103Y|PORCN_uc004djv.1_Silent_p.Y245Y|PORCN_uc004djw.1_Silent_p.Y239Y	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	245	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						TGCGAGCCTACGAGAGTGCTG	0.602													T	48372643	C	T	48372643	2	4	196	1	0	0	0	0	0	0	0	1	12258	547	19	1		1	PORCN	23	48372643	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	22160182	48372643	106897917	184	108997											
GATA1	2623	broad.mit.edu	37	chrX	48652490	48652490	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttccctggacccctactGggctcacccacgggctcctt	8	19	1	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:48652490G>T	uc004dkq.3	+	6	1252	c.1161G>T	c.(1159-1161)CTG>CTT	p.L387L		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	387					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						GACCCCTACTGGGCTCACCCA	0.662			Mis|F		megakaryoblastic leukemia of Downs Syndrome								T	48652490	G	T	48652490	2	4	196	1	0	0	0	0	0	0	0	1	6253	1335	47	5		5	GATA1	23	48652490	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	279847	48652490	106618070	185	108998											
PHF8	23133	broad.mit.edu	37	chrX	54043133	54043133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttgcagtcagcctggCgggtcacatcaatcacatca	8	13	7	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:54043133C>T	uc004dsu.2	-	6	672	c.599G>A	c.(598-600)CGC>CAC	p.R200H	PHF8_uc004dst.2_Missense_Mutation_p.R164H|PHF8_uc004dsv.2_Missense_Mutation_p.R30H|PHF8_uc004dsw.2_Missense_Mutation_p.R164H|PHF8_uc004dsx.2_5'Flank|PHF8_uc004dsy.2_Missense_Mutation_p.R164H	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	200					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GTCAGCCTGGCGGGTCACATC	0.448													T	54043133	C	T	54043133	3	4	196	1	0	0	0	0	1	0	0	0	11840	768	27	1	2821	1	PHF8	23	54043133	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	5390643	54043133	101227427	186	108999											
ATRX	546	broad.mit.edu	37	chrX	76939715	76939715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgggcacaattagtgCggaataagagtaggttacag	12	6	1	1	rs149249195	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:76939715C>T	uc004ecp.3	-	9	1265	c.1033G>A	c.(1033-1035)GCA>ACA	p.A345T	ATRX_uc004ecq.3_Missense_Mutation_p.A307T|ATRX_uc004eco.3_Missense_Mutation_p.A130T|ATRX_uc004ecr.2_Missense_Mutation_p.A306T|ATRX_uc010nlx.1_Missense_Mutation_p.A345T|ATRX_uc010nly.1_Missense_Mutation_p.A290T	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	345					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ACAATTAGTGCGGAATAAGAG	0.363			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939715	C	T	76939715	3	4	196	1	0	0	0	0	1	0	0	0	1208	768	27	1	6553	1	ATRX	23	76939715	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	22896582	76939715	78330845	187	109000											
ARMCX2	9823	broad.mit.edu	37	chrX	100911039	100911039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatagcaaacggaaaaaGtttgcaatggaattgacaag	11	4	0	2			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:100911039G>A	uc004eid.2	-	3	1891	c.1536C>T	c.(1534-1536)AAC>AAT	p.N512N	ARMCX2_uc004eie.3_Silent_p.N512N|ARMCX2_uc004eif.3_Silent_p.N512N|ARMCX2_uc004eig.3_Silent_p.N512N|ARMCX2_uc010nnt.2_Silent_p.N512N	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	512	ARM 3.					integral to membrane	binding			ovary(6)	6						AACGGAAAAAGTTTGCAATGG	0.363													A	100911039	G	A	100911039	2	1	196	1	0	0	0	0	0	0	0	1	960	1020	36	4		4	ARMCX2	23	100911039	Silent	SNP	G	TCGA-CG-5730-01A-11D-1600-08	23971324	100911039	54359521	188	109001											
TRPC5	7224	broad.mit.edu	37	chrX	111078194	111078194	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatagcaatcagcatgttCagcagcactaccagggagat	9	10	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:111078194C>T	uc004epl.1	-	7	2770	c.1851G>A	c.(1849-1851)CTG>CTA	p.L617L	TRPC5_uc004epm.1_Silent_p.L617L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	617	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						TCAGCATGTTCAGCAGCACTA	0.438													T	111078194	C	T	111078194	2	4	196	1	0	0	0	0	0	0	0	1	16579	813	29	4		4	TRPC5	23	111078194	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	10167155	111078194	44192366	189	109002											
MAGEC1	9947	broad.mit.edu	37	chrX	140995050	140995050	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcttcagggggaggaAttccagtcttctctccagag	11	11	4	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:140995050A>T	uc004fbt.2	+	4	2146	c.1860A>T	c.(1858-1860)GAA>GAT	p.E620D	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	620							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGGAGGAATTCCAGTCTT	0.562										HNSCC(15;0.026)			T	140995050	A	T	140995050	3	4	196	1	0	0	0	0	1	0	0	0	9180	98	4	5	1866	5	MAGEC1	23	140995050	Missense_Mutation	SNP	A	TCGA-CG-5730-01A-11D-1600-08	29916856	140995050	14275510	190	109003											
SLITRK4	139065	broad.mit.edu	37	chrX	142718454	142718454	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattaagaatgagaactttCagtttgtggagcttattgaa	9	4	2	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:142718454C>T	uc004fbx.2	-	2	847	c.471G>A	c.(469-471)CTG>CTA	p.L157L	SLITRK4_uc004fby.2_Silent_p.L157L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	157	Extracellular (Potential).|LRR 5.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAACTTTCAGTTTGTGGA	0.393													T	142718454	C	T	142718454	2	4	196	1	0	0	0	0	0	0	0	1	14745	813	29	4		4	SLITRK4	23	142718454	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	1723404	142718454	12552106	191	109004											
AFF2	2334	broad.mit.edu	37	chrX	148037715	148037715	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcgggaattcattgaaacaGattcatctacatctgactcc	6	11	4	3			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:148037715G>C	uc004fcp.2	+	11	2619	c.2140G>C	c.(2140-2142)GAT>CAT	p.D714H	AFF2_uc004fcq.2_Missense_Mutation_p.D704H|AFF2_uc004fcr.2_Missense_Mutation_p.D675H|AFF2_uc011mxb.1_Missense_Mutation_p.D679H|AFF2_uc004fcs.2_Missense_Mutation_p.D681H|AFF2_uc011mxc.1_Missense_Mutation_p.D355H	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	714					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CATTGAAACAGATTCATCTAC	0.458													C	148037715	G	C	148037715	3	2	196	1	0	0	0	0	1	0	0	0	357	942	33	5	2237	5	AFF2	23	148037715	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	5319261	148037715	7232845	192	109005											
MAMLD1	10046	broad.mit.edu	37	chrX	149641985	149641985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgcatggacttctgcaGctagctcggtgaagccccag	12	11	1	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:149641985G>A	uc004fee.1	+	4	2027	c.1951G>A	c.(1951-1953)GCT>ACT	p.A651T	MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Missense_Mutation_p.A626T|MAMLD1_uc011mxw.1_Intron	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	651					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					GACTTCTGCAGCTAGCTCGGT	0.542													A	149641985	G	A	149641985	3	1	196	1	0	0	0	0	1	0	0	0	9208	971	34	2	1965	2	MAMLD1	23	149641985	Missense_Mutation	SNP	G	TCGA-CG-5730-01A-11D-1600-08	1604270	149641985	5628575	193	109006											
MAGEA1	4100	broad.mit.edu	37	chrX	152482314	152482314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcttcctgggctcccCataggcactgtgctccctcc	10	17	0	0			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:152482314C>A	uc004fhf.2	-	3	917	c.697G>T	c.(697-699)GGG>TGG	p.G233W		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	233	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGCTCCCCATAGGCACTG	0.577													A	152482314	C	A	152482314	3	1	196	1	0	0	0	0	1	0	0	0	9163	594	21	5	236	5	MAGEA1	23	152482314	Missense_Mutation	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2840329	152482314	2788246	194	109007											
TMLHE	55217	broad.mit.edu	37	chrX	154743754	154743754	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagttttgcagaaacttcttCagtccctcgttggtttctaa	7	9	3	1			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7	432f25db-bdbb-4b92-89c0-7f179f3927ed	g.chrX:154743754C>T	uc004fnn.2	-	4	697	c.531G>A	c.(529-531)CTG>CTA	p.L177L	TMLHE_uc004fno.2_Silent_p.L177L|TMLHE_uc004fnp.3_Silent_p.L177L	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	177					carnitine biosynthetic process	mitochondrial 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|trimethyllysine dioxygenase activity			ovary(1)	1	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	GAAACTTCTTCAGTCCCTCGT	0.448													T	154743754	C	T	154743754	2	4	196	1	0	0	0	0	0	0	0	1	16229	813	29	4		4	TMLHE	23	154743754	Silent	SNP	C	TCGA-CG-5730-01A-11D-1600-08	2261440	154743754	526806	195	109008											
KIAA0754	643314	broad.mit.edu	37	chr1	39877377	39877378	+	Frame_Shift_Ins	INS	-	-	A													gtttatgtgaagaaggagtaINSactcctctagttgagctaca							TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr1:39877376_39877377T>TA	uc009vvt.1	+	0	2201_2202	c.1439_1440T>TA	c.(1438-1440)gtafs	p.V480fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	344										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)			GAAGAAGGAGTAACTCCTCTAG	0.431													A	39877378	-	A	39877377	7	5	197	1	0	1	1	0	0	0	0	0	8192	349	13	0	1442	0	KIAA0754	1	39877377	Frame_Shift_Ins	INS	-	TCGA-CG-5732-01A-11D-1600-08		39877377	209373244	1	109009											
HS2ST1	9653	broad.mit.edu	37	chr1	87570372	87570372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgaaaagatttaccctaagtCgaactgagtataaggtgtga	10	5	0	4			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr1:87570372C>G	uc010osk.1	+	7	1449	c.1064C>G	c.(1063-1065)TCG>TGG	p.S355W	LOC339524_uc001dme.1_Intron	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	355	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TACCCTAAGTCGAACTGAGTA	0.423													G	87570372	C	G	87570372	3	3	197	1	0	0	0	0	1	0	0	0	7362	893	31	5	1094	5	HS2ST1	1	87570372	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	47692995	87570372	161680249	2	109010											
FLG	2312	broad.mit.edu	37	chr1	152280076	152280076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgctggtcccggtccgtCcatgggcggactcagactgt	14	13	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr1:152280076C>T	uc001ezu.1	-	3	7322	c.7286G>A	c.(7285-7287)GGA>GAA	p.G2429E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2429	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGGTCCGTCCATGGGCGGA	0.592									Ichthyosis				T	152280076	C	T	152280076	3	4	197	1	0	0	0	0	1	0	0	0	5922	855	30	4	4903	4	FLG	1	152280076	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	64709704	152280076	96970545	3	109011											
FLG	2312	broad.mit.edu	37	chr1	152281163	152281163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggctctgctgatgggGcccagcttttccctgtgctg	13	11	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr1:152281163G>T	uc001ezu.1	-	3	6235	c.6199C>A	c.(6199-6201)CCC>ACC	p.P2067T		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2067	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGATGGGGCCCAGCTTTT	0.562									Ichthyosis				T	152281163	G	T	152281163	3	4	197	1	0	0	0	0	1	0	0	0	5922	1203	42	5	5990	5	FLG	1	152281163	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	1087	152281163	96969458	4	109012											
DARC	2532	broad.mit.edu	37	chr1	159175316	159175316	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgtatggaattcttcCtatggtgtgaatgattcctt	10	5	1	3			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr1:159175316C>A	uc001fto.2	+	2	327	c.87C>A	c.(85-87)TCC>TCA	p.S29S	DARC_uc001ftp.3_Silent_p.S31S	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	29	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					GGAATTCTTCCTATGGTGTGA	0.537													A	159175316	C	A	159175316	2	1	197	1	0	0	0	0	0	0	0	1	4240	668	24	5		5	DARC	1	159175316	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08	6894153	159175316	90075305	5	109013											
KIAA1614	57710	broad.mit.edu	37	chr1	180885845	180885845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgacagaggtccgctGctggggcccagctctttgca	13	13	1	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr1:180885845G>A	uc001gok.2	+	2	673	c.606G>A	c.(604-606)CTG>CTA	p.L202L		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	202										ovary(3)|skin(1)	4						GAGGTCCGCTGCTGGGGCCCA	0.612													A	180885845	G	A	180885845	2	1	197	1	0	0	0	0	0	0	0	1	8248	1306	46	2		2	KIAA1614	1	180885845	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08	21710529	180885845	68364776	6	109014											
RYR2	6262	broad.mit.edu	37	chr1	237947621	237947621	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctttgaaatgcagctggcGgctcagatctcggagtcgga	13	9	3	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr1:237947621G>T	uc001hyl.1	+	90	12729	c.12609G>T	c.(12607-12609)GCG>GCT	p.A4203A	RYR2_uc010pya.1_Silent_p.A618A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4203					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TGCAGCTGGCGGCTCAGATCT	0.517													T	237947621	G	T	237947621	2	4	197	1	0	0	0	0	0	0	0	1	13769	1103	39	5		5	RYR2	1	237947621	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08	57061776	237947621	11303000	7	109015											
FSHR	2492	broad.mit.edu	37	chr2	49295370	49295370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacatacattttctccaggTccccaaatcctgaaaatgca	5	12	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:49295370T>C	uc002rww.2	-	2	286	c.212A>G	c.(211-213)GAC>GGC	p.D71G	FSHR_uc002rwx.2_Missense_Mutation_p.D71G|FSHR_uc010fbn.2_Missense_Mutation_p.D71G|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	71	Extracellular (Potential).|LRR 1.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	TTTCTCCAGGTCCCCAAATCC	0.443									Gonadal_Dysgenesis_46_XX				C	49295370	T	C	49295370	3	2	197	1	0	0	0	0	1	0	0	0	6073	1667	58	3	1911	3	FSHR	2	49295370	Missense_Mutation	SNP	T	TCGA-CG-5732-01A-11D-1600-08		49295370	193904003	8	109016											
CCDC85A	114800	broad.mit.edu	37	chr2	56420153	56420153	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccccagatcgccccaaagCactcaaaggacctagcccgg	8	17	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:56420153C>G	uc002rzn.2	+	2	1320	c.818C>G	c.(817-819)GCA>GGA	p.A273G		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	273	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGCCCCAAAGCACTCAAAGGA	0.662													G	56420153	C	G	56420153	3	3	197	1	0	0	0	0	1	0	0	0	2859	710	25	5	824	5	CCDC85A	2	56420153	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	7124783	56420153	186779220	9	109017											
LRP1B	53353	broad.mit.edu	37	chr2	141283892	141283892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtcccatctgcacagCggaactcaaccgtggcacag	9	14	2	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:141283892C>T	uc002tvj.1	-	48	8762	c.7790G>A	c.(7789-7791)CGC>CAC	p.R2597H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2597	Extracellular (Potential).|LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ATCTGCACAGCGGAACTCAAC	0.403										TSP Lung(27;0.18)			T	141283892	C	T	141283892	3	4	197	1	0	0	0	0	1	0	0	0	8955	768	27	1	6185	1	LRP1B	2	141283892	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	84863739	141283892	101915481	10	109018											
SCN9A	6335	broad.mit.edu	37	chr2	167055546	167055546	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggaaggatttgcagacAtgaacctttcttccatctgt	8	9	2	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:167055546A>C	uc010fpl.2	-	27	5911	c.5570T>G	c.(5569-5571)ATG>AGG	p.M1857R	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1868						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTTGCAGACATGAACCTTTC	0.433													C	167055546	A	C	167055546	3	2	197	1	0	0	0	0	1	0	0	0	13925	217	8	5	367	5	SCN9A	2	167055546	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08	25771654	167055546	76143827	11	109019											
LRP2	4036	broad.mit.edu	37	chr2	170060760	170060760	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgatccacgcccgtcagAgtgctgcgttcaatcctctg	9	15	4	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:170060760A>C	uc002ues.2	-	42	7950	c.7737T>G	c.(7735-7737)ACT>ACG	p.T2579T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2579	LDL-receptor class B 28.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	CGCCCGTCAGAGTGCTGCGTT	0.438													C	170060760	A	C	170060760	2	2	197	1	0	0	0	0	0	0	0	1	8956	291	11	5		5	LRP2	2	170060760	Silent	SNP	A	TCGA-CG-5732-01A-11D-1600-08	3005214	170060760	73138613	12	109020											
TTN	7273	broad.mit.edu	37	chr2	179654210	179654210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagacaaggcagttttctcGgcttcctttctcatctgatt	8	10	3	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:179654210G>A	uc010zfg.1	-	13	2177	c.1953C>T	c.(1951-1953)GCC>GCT	p.A651A	TTN_uc010zfh.1_Silent_p.A605A|TTN_uc010zfi.1_Silent_p.A605A|TTN_uc010zfj.1_Silent_p.A605A|TTN_uc002unb.2_Silent_p.A651A|TTN_uc010frg.1_Silent_p.A233A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	651							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTTTCTCGGCTTCCTTTC	0.403													A	179654210	G	A	179654210	2	1	197	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179654210	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08	9593450	179654210	63545163	13	109021											
IRS1	3667	broad.mit.edu	37	chr2	227662755	227662755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcatccagaactcccCgggccccgtcacggcagaac	9	19	1	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:227662755C>T	uc002voh.3	-	1	752	c.700G>A	c.(700-702)GGG>AGG	p.G234R		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	234	IRS-type PTB.				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		CAGAACTCCCCGGGCCCCGTC	0.627											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	227662755	C	T	227662755	3	4	197	1	0	0	0	0	1	0	0	0	7840	652	23	1	3032	1	IRS1	2	227662755	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	48008545	227662755	15536618	14	109022											
SP110	3431	broad.mit.edu	37	chr2	231067427	231067427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcttttggattccgtGtctagatgaggctgtccctg	12	9	2	2	rs148304482		TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr2:231067427G>A	uc002vqh.3	-	9	1156	c.916C>T	c.(916-918)CAC>TAC	p.H306Y	SP110_uc002vqg.3_Missense_Mutation_p.H306Y|SP110_uc002vqi.3_Missense_Mutation_p.H306Y|SP110_uc010fxk.2_Missense_Mutation_p.H304Y|SP110_uc010fxj.2_Intron	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	306					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		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)		TGGATTCCGTGTCTAGATGAG	0.458													A	231067427	G	A	231067427	3	1	197	1	0	0	0	0	1	0	0	0	14961	1377	48	4	1333	4	SP110	2	231067427	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	3404672	231067427	12131946	15	109023											
PLXNB1	5364	broad.mit.edu	37	chr3	48448490	48448490	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatacagaagtttgttgatCggggagtcctggacatagca	13	7	0	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr3:48448490C>T	uc003csw.2	-	35	6366	c.6096G>A	c.(6094-6096)CCG>CCA	p.P2032P	PLXNB1_uc003cst.2_Silent_p.P482P|PLXNB1_uc003csu.2_Silent_p.P1849P|PLXNB1_uc003csx.2_Silent_p.P2032P	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	2032	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTTGTTGATCGGGGAGTCCT	0.473													T	48448490	C	T	48448490	2	4	197	1	0	0	0	0	0	0	0	1	12123	871	31	1		1	PLXNB1	3	48448490	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08		48448490	149573940	16	109024											
CACNA2D3	55799	broad.mit.edu	37	chr3	55107475	55107475	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctcttgttccaacaggtcCtttgtcatccagcaaatccc	5	15	2	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr3:55107475C>G	uc003dhf.2	+	36	3039	c.2991C>G	c.(2989-2991)TCC>TCG	p.S997S	CACNA2D3_uc003dhg.1_Silent_p.S903S|CACNA2D3_uc003dhh.1_RNA	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	997	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCAACAGGTCCTTTGTCATCC	0.512													G	55107475	C	G	55107475	2	3	197	1	0	0	0	0	0	0	0	1	2550	668	24	5		5	CACNA2D3	3	55107475	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08	6658985	55107475	142914955	17	109025											
OR5K4	403278	broad.mit.edu	37	chr3	98072767	98072767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaattatccagagctgAagacgcttctgtttgtggtg	10	7	1	3			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr3:98072767A>G	uc011bgv.1	+	1	70	c.70A>G	c.(70-72)AAG>GAG	p.K24E		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TCCAGAGCTGAAGACGCTTCT	0.438													G	98072767	A	G	98072767	3	3	197	1	0	0	0	0	1	0	0	0	11169	247	9	3	72	3	OR5K4	3	98072767	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08	42965292	98072767	99949663	18	109026											
SLC15A2	6565	broad.mit.edu	37	chr3	121648191	121648191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccaatgggatgacaaccGtgaggtttgaatgtcaatga	11	7	1	4			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr3:121648191G>A	uc003eep.2	+	17	1702	c.1549G>A	c.(1549-1551)GTG>ATG	p.V517M	SLC15A2_uc011bjn.1_Missense_Mutation_p.V486M	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	517					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GATGACAACCGTGAGGTTTGA	0.398													A	121648191	G	A	121648191	3	1	197	1	0	0	0	0	1	0	0	0	14399	1145	40	1	1615	1	SLC15A2	3	121648191	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	23575424	121648191	76374239	19	109027											
NAALADL2	254827	broad.mit.edu	37	chr3	175473204	175473204	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcaccaccaggtttttaTaggtaggatgcatgtctcaa	10	9	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr3:175473204T>C	uc003fit.2	+	13	2274	c.2187T>C	c.(2185-2187)TAT>TAC	p.Y729Y		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	729	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		CAGGTTTTTATAGGTAGGATG	0.393													C	175473204	T	C	175473204	2	2	197	1	0	0	0	0	0	0	0	1	10130	1413	49	3		3	NAALADL2	3	175473204	Silent	SNP	T	TCGA-CG-5732-01A-11D-1600-08	53825013	175473204	22549226	20	109028											
PDHA2	5161	broad.mit.edu	37	chr4	96761832	96761832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgctggcattgctctGgcctgtaaatataaaggaaa	12	8	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr4:96761832G>A	uc003htr.3	+	1	594	c.531G>A	c.(529-531)CTG>CTA	p.L177L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	177					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCATTGCTCTGGCCTGTAAAT	0.498													A	96761832	G	A	96761832	2	1	197	1	0	0	0	0	0	0	0	1	11665	1335	47	4		4	PDHA2	4	96761832	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08		96761832	94392444	21	109029											
MARVELD2	153562	broad.mit.edu	37	chr5	68716051	68716051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatgtccatgtattaccGgaccattcttctggactcta	8	11	3	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:68716051G>A	uc003jwq.2	+	2	898	c.839G>A	c.(838-840)CGG>CAG	p.R280Q	MARVELD2_uc010ixf.2_Missense_Mutation_p.R280Q|MARVELD2_uc003jwr.1_Missense_Mutation_p.R280Q|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	280	MARVEL.|Extracellular (Potential).				sensory perception of sound	integral to membrane|tight junction					0		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)		ATGTATTACCGGACCATTCTT	0.433													A	68716051	G	A	68716051	3	1	197	1	0	0	0	0	1	0	0	0	9318	1116	39	1	841	1	MARVELD2	5	68716051	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08		68716051	112199209	22	109030											
TNPO1	3842	broad.mit.edu	37	chr5	72178338	72178338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaagtactcagacatagAtattatcctacttaaggtaa	6	7	1	3			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:72178338A>G	uc003kck.3	+	10	1112	c.965A>G	c.(964-966)GAT>GGT	p.D322G	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.D272G|TNPO1_uc003kch.2_Missense_Mutation_p.D314G|TNPO1_uc003kci.3_Missense_Mutation_p.D314G|TNPO1_uc003kcg.3_Missense_Mutation_p.D314G	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	322					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCAGACATAGATATTATCCTA	0.303													G	72178338	A	G	72178338	3	3	197	1	0	0	0	0	1	0	0	0	16332	333	12	3	1003	3	TNPO1	5	72178338	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08	3462287	72178338	108736922	23	109031											
CRHBP	1393	broad.mit.edu	37	chr5	76249963	76249963	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgaggagttcattaccatCcactacgaccaggtctccat	7	15	2	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:76249963C>T	uc003ker.2	+	3	565	c.285C>T	c.(283-285)ATC>ATT	p.I95I	CRHBP_uc010izx.2_Silent_p.I95I	NM_001882	NP_001873	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	95					female pregnancy|learning or memory|signal transduction	soluble fraction					0		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)		TCATTACCATCCACTACGACC	0.652													T	76249963	C	T	76249963	2	4	197	1	0	0	0	0	0	0	0	1	3870	845	30	4		4	CRHBP	5	76249963	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08	4071625	76249963	104665297	24	109032											
EPB41L4A	64097	broad.mit.edu	37	chr5	111601943	111601943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctacactggatggcataCgctcccagctgagcagcagt	10	14	0	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:111601943C>T	uc003kpv.1	-	5	694	c.420G>A	c.(418-420)GCG>GCA	p.A140A	EPB41L4A_uc003kpw.1_Silent_p.A140A	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	140	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		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)		GGATGGCATACGCTCCCAGCT	0.433													T	111601943	C	T	111601943	2	4	197	1	0	0	0	0	0	0	0	1	5155	523	19	1		1	EPB41L4A	5	111601943	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08	35351980	111601943	69313317	25	109033											
AFF4	27125	broad.mit.edu	37	chr5	132272875	132272875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacattccggtcttcacGgttcatgttgctatgaaaag	9	10	3	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:132272875G>A	uc003kyd.2	-	2	415	c.7C>T	c.(7-9)CGT>TGT	p.R3C	AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.R3C|AFF4_uc003kyf.3_Missense_Mutation_p.R3C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	3					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGGTCTTCACGGTTCATGTTG	0.413													A	132272875	G	A	132272875	3	1	197	1	0	0	0	0	1	0	0	0	359	1116	39	1	3564	1	AFF4	5	132272875	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	20670932	132272875	48642385	26	109034											
NR3C1	2908	broad.mit.edu	37	chr5	142689712	142689712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatagcggcatgctgggCagttttttcttcgaatttta	10	7	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:142689712C>A	uc003lmz.2	-	4	1910	c.1418G>T	c.(1417-1419)TGC>TTC	p.C473F	NR3C1_uc003lmy.2_Missense_Mutation_p.C474F|NR3C1_uc003lna.2_Missense_Mutation_p.C473F|NR3C1_uc003lnb.2_Missense_Mutation_p.C473F|NR3C1_uc011dbk.1_Missense_Mutation_p.C76F|NR3C1_uc003lnc.2_Missense_Mutation_p.C473F|NR3C1_uc003lnd.2_Missense_Mutation_p.C473F|NR3C1_uc003lne.2_Missense_Mutation_p.C473F|NR3C1_uc003lnf.2_Missense_Mutation_p.C474F	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	473	NR C4-type.|Nuclear receptor.				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			ovary(2)	2		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)	GCATGCTGGGCAGTTTTTTCT	0.363													A	142689712	C	A	142689712	3	1	197	1	0	0	0	0	1	0	0	0	10630	710	25	5	991	5	NR3C1	5	142689712	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	10416837	142689712	38225548	27	109035											
SPINK5	11005	broad.mit.edu	37	chr5	147475440	147475441	+	Frame_Shift_Ins	INS	-	-	A													aatttgggaaaagctgaagaINSaaaaactaaagttaaaagag							TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:147475439_147475440G>GA	uc003lox.2	+	9	926_927	c.853_854G>GA	c.(853-855)gaafs	p.E285fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Ins_p.E257fs|SPINK5_uc010jgr.2_Frame_Shift_Ins_p.E266fs|SPINK5_uc003low.2_Frame_Shift_Ins_p.E285fs|SPINK5_uc003loy.2_Frame_Shift_Ins_p.E285fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	285	Kazal-like 4.				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)			AAAAGCTGAAGAAAAAACTAAA	0.376													A	147475441	-	A	147475440	7	5	197	1	0	1	1	0	0	0	0	0	15061	246	9	0	892	0	SPINK5	5	147475440	Frame_Shift_Ins	INS	-	TCGA-CG-5732-01A-11D-1600-08	4785728	147475440	33439820	28	109036											
SAP30L	79685	broad.mit.edu	37	chr5	153833058	153833058	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaataaggcccagttagcaGaagtaggtagacaaaattgc	10	7	1	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:153833058G>A	uc003lvk.2	+	3	1069	c.421G>A	c.(421-423)GAA>AAA	p.E141K	SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Missense_Mutation_p.E100K|SAP30L_uc011ddd.1_Missense_Mutation_p.E95K	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	SAP30-like isoform 1	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCAGTTAGCAGAAGTAGGTAG	0.463													A	153833058	G	A	153833058	3	1	197	1	0	0	0	0	1	0	0	0	13835	943	33	4	431	4	SAP30L	5	153833058	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	6357618	153833058	27082202	29	109037											
FBXW11	23291	broad.mit.edu	37	chr5	171305130	171305130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggctggttttatcccAtatctattgagacaagatta	7	8	1	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr5:171305130A>G	uc003mbm.1	-	7	1164	c.793T>C	c.(793-795)TGG>CGG	p.W265R	FBXW11_uc011dey.1_Missense_Mutation_p.W233R|FBXW11_uc003mbl.1_Missense_Mutation_p.W252R|FBXW11_uc003mbn.1_Missense_Mutation_p.W231R	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	265	WD 1.				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			ovary(1)|breast(1)	2	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)			GTTTTATCCCATATCTATTGA	0.373													G	171305130	A	G	171305130	3	3	197	1	0	0	0	0	1	0	0	0	5764	217	8	3	859	3	FBXW11	5	171305130	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08	17472072	171305130	9610130	30	109038											
MSH5	4439	broad.mit.edu	37	chr6	31729612	31729612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccatggagacctgtgaGgatggcaacgatcttgtctt	12	8	2	3			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr6:31729612G>A	uc003nwv.1	+	23	2278	c.2199G>A	c.(2197-2199)GAG>GAA	p.E733E	MSH5_uc003nwt.1_Silent_p.E750E|MSH5_uc003nwu.1_Silent_p.E734E|MSH5_uc003nww.1_Silent_p.E733E|MSH5_uc003nwx.1_Silent_p.E751E|MSH5_uc011dof.1_Silent_p.E432E|MSH5_uc003nwy.1_Silent_p.E407E|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	733					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						AGACCTGTGAGGATGGCAACG	0.522								Direct_reversal_of_damage|MMR					A	31729612	G	A	31729612	2	1	197	1	0	0	0	0	0	0	0	1	9873	991	35	4		4	MSH5	6	31729612	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08		31729612	139385455	31	109039											
MAGI2	9863	broad.mit.edu	37	chr7	77998505	77998505	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgccataaatgggatcatcGattttttcccagccatatgg	9	9	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr7:77998505G>A	uc003ugx.2	-	7	1325	c.1071C>T	c.(1069-1071)ATC>ATT	p.I357I	MAGI2_uc003ugy.2_Silent_p.I357I|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Silent_p.I189I|MAGI2_uc011kgs.1_Silent_p.I194I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	357	WW 2.|Interaction with DDN.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGGATCATCGATTTTTTCCC	0.244													A	77998505	G	A	77998505	2	1	197	1	0	0	0	0	0	0	0	1	9191	1048	37	1		1	MAGI2	7	77998505	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08		77998505	81140158	32	109040											
KRIT1	889	broad.mit.edu	37	chr7	91864762	91864762	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacaaagggttgtaaatAcaggtatctgctttctctag	8	8	2	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr7:91864762A>G	uc003ulq.1	-	6	855	c.684T>C	c.(682-684)TGT>TGC	p.C228C	KRIT1_uc010lev.1_Silent_p.C21C|KRIT1_uc003ulr.1_Silent_p.C228C|KRIT1_uc003uls.1_Silent_p.C228C|KRIT1_uc003ult.1_Silent_p.C228C|KRIT1_uc003ulu.1_Silent_p.C228C|KRIT1_uc003ulv.1_Silent_p.C228C	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	228					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			ovary(2)|lung(1)	3	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)			GGTTGTAAATACAGGTATCTG	0.353									Familial_Cerebral_Cavernous_Angioma				G	91864762	A	G	91864762	2	3	197	1	0	0	0	0	0	0	0	1	8445	389	14	3		3	KRIT1	7	91864762	Silent	SNP	A	TCGA-CG-5732-01A-11D-1600-08	13866257	91864762	67273901	33	109041											
PILRB	29990	broad.mit.edu	37	chr7	99956991	99956991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccacctggaggcccagCagcacaaccaccatagccgg	9	18	0	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr7:99956991C>T	uc003uuk.2	+	17	2982	c.486C>T	c.(484-486)AGC>AGT	p.S162S	PILRB_uc003uul.2_Nonsense_Mutation_p.Q93*|PILRB_uc003uun.2_Silent_p.S162S	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN	paired immunoglobulin-like type 2 receptor beta	162	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGGCCCAGCAGCACAACCA	0.572													T	99956991	C	T	99956991	2	4	197	1	0	0	0	0	0	0	0	1	11926	711	25	2		2	PILRB	7	99956991	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08	8092229	99956991	59181672	34	109042											
PTPRZ1	5803	broad.mit.edu	37	chr7	121608163	121608163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcattggaaaacacattcAttcataacactgggaaaaca	5	9	3	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr7:121608163A>C	uc003vjy.2	+	3	678	c.283A>C	c.(283-285)ATT>CTT	p.I95L	PTPRZ1_uc003vjz.2_Missense_Mutation_p.I95L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	95	Extracellular (Potential).|Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AAACACATTCATTCATAACAC	0.303													C	121608163	A	C	121608163	3	2	197	1	0	0	0	0	1	0	0	0	12814	217	8	5	293	5	PTPRZ1	7	121608163	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08	21651172	121608163	37530500	35	109043											
PINX1	54984	broad.mit.edu	37	chr8	10623284	10623284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttttacgttccacctgcGtctcagaaatgtcagaccct	6	15	2	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr8:10623284G>A	uc003wth.2	-	7	647	c.614C>T	c.(613-615)ACG>ATG	p.T205M	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	205				T -> A (in Ref. 6; AAS19507).	mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTCCACCTGCGTCTCAGAAAT	0.522													A	10623284	G	A	10623284	3	1	197	1	0	0	0	0	1	0	0	0	11933	1145	40	1	376	1	PINX1	8	10623284	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08		10623284	135740738	36	109044											
CHRNA6	8973	broad.mit.edu	37	chr8	42611522	42611522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaggactgaaatacaaaGcgtcactttttcaccacagt	7	10	2	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr8:42611522G>A	uc003xpj.2	-	5	866	c.820C>T	c.(820-822)CTT>TTT	p.L274F	CHRNA6_uc011lcw.1_Missense_Mutation_p.L259F	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	274	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	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)			GAAATACAAAGCGTCACTTTT	0.438													A	42611522	G	A	42611522	3	1	197	1	0	0	0	0	1	0	0	0	3387	971	34	2	672	2	CHRNA6	8	42611522	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	31988238	42611522	103752500	37	109045											
CSMD3	114788	broad.mit.edu	37	chr8	113276010	113276010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccttccagccttccattAgagatctggggaggagttgg	13	9	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr8:113276010A>G	uc003ynu.2	-	61	9879	c.9720T>C	c.(9718-9720)TCT>TCC	p.S3240S	CSMD3_uc003yns.2_Silent_p.S2442S|CSMD3_uc003ynt.2_Silent_p.S3200S|CSMD3_uc011lhx.1_Silent_p.S3071S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3240	Sushi 25.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GCCTTCCATTAGAGATCTGGG	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113276010	A	G	113276010	2	3	197	1	0	0	0	0	0	0	0	1	3946	407	15	3		3	CSMD3	8	113276010	Silent	SNP	A	TCGA-CG-5732-01A-11D-1600-08	70664488	113276010	33088012	38	109046											
TRPS1	7227	broad.mit.edu	37	chr8	116426974	116426974	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtactttcctgaggActttttatctgaatgtgcaa	7	9	2	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr8:116426974A>C	uc003ynz.2	-	6	3582	c.3123T>G	c.(3121-3123)AGT>AGG	p.S1041R	TRPS1_uc011lhy.1_Missense_Mutation_p.S1045R|TRPS1_uc003yny.2_Missense_Mutation_p.S1054R|TRPS1_uc010mcy.2_Missense_Mutation_p.S1041R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1041	Mediates interaction with RNF4 (By similarity).				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TTTCCTGAGGACTTTTTATCT	0.438									Langer-Giedion_syndrome				C	116426974	A	C	116426974	3	2	197	1	0	0	0	0	1	0	0	0	16590	272	10	5	726	5	TRPS1	8	116426974	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08	3150964	116426974	29937048	39	109047											
PTPRD	5789	broad.mit.edu	37	chr9	8518230	8518230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccctgaattcataatcCgagtagggacttagtccagc	8	11	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr9:8518230C>T	uc003zkk.2	-	20	1872	c.1161G>A	c.(1159-1161)TCG>TCA	p.S387S	PTPRD_uc003zkp.2_Silent_p.S387S|PTPRD_uc003zkq.2_Silent_p.S387S|PTPRD_uc003zkr.2_Silent_p.S381S|PTPRD_uc003zks.2_Silent_p.S377S|PTPRD_uc003zkl.2_Silent_p.S387S|PTPRD_uc003zkm.2_Silent_p.S374S|PTPRD_uc003zkn.2_Silent_p.S387S|PTPRD_uc003zko.2_Silent_p.S384S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	387	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		ATTCATAATCCGAGTAGGGAC	0.488										TSP Lung(15;0.13)			T	8518230	C	T	8518230	2	4	197	1	0	0	0	0	0	0	0	1	12799	639	23	1		1	PTPRD	9	8518230	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08		8518230	132695201	40	109048											
TNC	3371	broad.mit.edu	37	chr9	117792587	117792587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacttccagcgcctcagcCttatcaccattcagataaat	5	13	3	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr9:117792587C>A	uc004bjj.3	-	24	6380	c.6018G>T	c.(6016-6018)AAG>AAT	p.K2006N	TNC_uc010mvf.2_Missense_Mutation_p.K1733N	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	2006	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GCGCCTCAGCCTTATCACCAT	0.552													A	117792587	C	A	117792587	3	1	197	1	0	0	0	0	1	0	0	0	16267	680	24	5	607	5	TNC	9	117792587	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	109274357	117792587	23420844	41	109049											
GLT6D1	360203	broad.mit.edu	37	chr9	138516144	138516144	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caagctgctgaggtcggcctCctctcataagggaagttctt	11	11	2	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr9:138516144C>G	uc010nbd.1	-	5	884	c.630G>C	c.(628-630)AGG>AGC	p.R210S		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	210	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGGTCGGCCTCCTCTCATAAG	0.517													G	138516144	C	G	138516144	3	3	197	1	0	0	0	0	1	0	0	0	6468	854	30	5	204	5	GLT6D1	9	138516144	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	20723557	138516144	2697287	42	109050											
PNPLA7	375775	broad.mit.edu	37	chr9	140437210	140437210	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacaaagacgatgtgttTgcaaagctccaggaacagcg	11	10	0	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr9:140437210T>G	uc004cnf.2	-	6	812	c.475A>C	c.(475-477)AAA>CAA	p.K159Q	PNPLA7_uc010ncj.1_Missense_Mutation_p.K184Q	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	159	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ACGATGTGTTTGCAAAGCTCC	0.642													G	140437210	T	G	140437210	3	3	197	1	0	0	0	0	1	0	0	0	12170	1821	63	5	3594	5	PNPLA7	9	140437210	Missense_Mutation	SNP	T	TCGA-CG-5732-01A-11D-1600-08	1921066	140437210	776221	43	109051											
YME1L1	10730	broad.mit.edu	37	chr10	27400956	27400956	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacaatttgaatctctttggCatccaaagtctcataggtca	6	9	3	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr10:27400956C>G	uc001iti.2	-	20	2454	c.2272G>C	c.(2272-2274)GCC>CCC	p.A758P	YME1L1_uc001itj.2_Missense_Mutation_p.A701P|YME1L1_uc010qdl.1_Missense_Mutation_p.A668P|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	758					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATCTCTTTGGCATCCAAAGTC	0.373													G	27400956	C	G	27400956	3	3	197	1	0	0	0	0	1	0	0	0	17484	710	25	5	53	5	YME1L1	10	27400956	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08		27400956	108133791	44	109052											
JMJD1C	221037	broad.mit.edu	37	chr10	64967507	64967507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtactagaagatggacGcacaatgacagatgccatag	10	7	0	4			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr10:64967507G>A	uc001jmn.2	-	10	4222	c.3922C>T	c.(3922-3924)CGT>TGT	p.R1308C	JMJD1C_uc001jml.2_Missense_Mutation_p.R1089C|JMJD1C_uc001jmm.2_Missense_Mutation_p.R1020C|JMJD1C_uc010qiq.1_Missense_Mutation_p.R1126C|JMJD1C_uc009xpi.2_Missense_Mutation_p.R1126C|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.R345C	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1308					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAAGATGGACGCACAATGACA	0.423													A	64967507	G	A	64967507	3	1	197	1	0	0	0	0	1	0	0	0	7950	1087	38	1	3768	1	JMJD1C	10	64967507	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	37566551	64967507	70567240	45	109053											
NT5C2	22978	broad.mit.edu	37	chr10	104859733	104859733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatcctggaacatactccGgtaggacatgaagaggtccc	10	11	0	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr10:104859733G>A	uc001kwo.2	-	9	769	c.583C>T	c.(583-585)CGG>TGG	p.R195W	NT5C2_uc010qqp.1_Missense_Mutation_p.R166W|NT5C2_uc001kwq.2_Missense_Mutation_p.R195W|NT5C2_uc001kwp.2_Missense_Mutation_p.R42W	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	195					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		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)	AACATACTCCGGTAGGACATG	0.393													A	104859733	G	A	104859733	3	1	197	1	0	0	0	0	1	0	0	0	10687	1115	39	1	1146	1	NT5C2	10	104859733	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	39892226	104859733	30675014	46	109054											
TDRD1	56165	broad.mit.edu	37	chr10	115963311	115963311	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagtttgtattgccaaGtacactgttgatcaggtaac	12	6	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr10:115963311G>C	uc001lbg.1	+	8	1119	c.966G>C	c.(964-966)AAG>AAC	p.K322N	TDRD1_uc001lbf.2_Missense_Mutation_p.K313N|TDRD1_uc001lbh.1_Missense_Mutation_p.K313N|TDRD1_uc001lbi.1_Missense_Mutation_p.K313N|TDRD1_uc010qsc.1_Missense_Mutation_p.K31N|TDRD1_uc001lbj.2_Missense_Mutation_p.K31N	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	322	Tudor 1.				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				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTATTGCCAAGTACACTGTTG	0.353													C	115963311	G	C	115963311	3	2	197	1	0	0	0	0	1	0	0	0	15727	1020	36	5	992	5	TDRD1	10	115963311	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	11103578	115963311	19571436	47	109055											
TCERG1L	256536	broad.mit.edu	37	chr10	132944909	132944909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaactcggtcatcgcccGtccagaccacacacctgttt	7	15	1	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr10:132944909G>A	uc001lkp.2	-	7	1135	c.1049C>T	c.(1048-1050)ACG>ATG	p.T350M	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	350	WW 2.									large_intestine(2)|ovary(2)	4		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)		GTCATCGCCCGTCCAGACCAC	0.502													A	132944909	G	A	132944909	3	1	197	1	0	0	0	0	1	0	0	0	15683	1145	40	1	735	1	TCERG1L	10	132944909	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	16981598	132944909	2589838	48	109056											
OR5D13	390142	broad.mit.edu	37	chr11	55541123	55541123	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccttagtcacttgtccttGacagacttctgtttttccac	5	12	2	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr11:55541123G>T	uc010ril.1	+	1	210	c.210G>T	c.(208-210)TTG>TTT	p.L70F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				ACTTGTCCTTGACAGACTTCT	0.393													T	55541123	G	T	55541123	3	4	197	1	0	0	0	0	1	0	0	0	11154	1281	45	5	212	5	OR5D13	11	55541123	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08		55541123	79465393	49	109057											
KDM4D	55693	broad.mit.edu	37	chr11	94731792	94731792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactgctacgcagccccGggctgctgctgtccacagct	12	16	0	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr11:94731792G>A	uc001pfe.2	+	3	2088	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	419					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				0						ACGCAGCCCCGGGCTGCTGCT	0.602													A	94731792	G	A	94731792	3	1	197	1	0	0	0	0	1	0	0	0	8131	1116	39	1	1258	1	KDM4D	11	94731792	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	39190669	94731792	40274724	50	109058											
CWF19L2	143884	broad.mit.edu	37	chr11	107299860	107299860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagggtctcaagaatttAgctctcaaattgccaaaaga	8	8	3	3			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr11:107299860A>G	uc010rvp.1	-	8	1128	c.1098T>C	c.(1096-1098)GCT>GCC	p.A366A	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	366							catalytic activity				0		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)		TCAAGAATTTAGCTCTCAAAT	0.398													G	107299860	A	G	107299860	2	3	197	1	0	0	0	0	0	0	0	1	4072	407	15	3		3	CWF19L2	11	107299860	Silent	SNP	A	TCGA-CG-5732-01A-11D-1600-08	12568068	107299860	27706656	51	109059											
SIDT2	51092	broad.mit.edu	37	chr11	117059426	117059426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctgccctttccaggcCgctcctttgaacctgtaggt	8	17	0	1	rs141277106		TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr11:117059426C>T	uc001pqh.1	+	13	1203	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C	SIDT2_uc010rxe.1_Missense_Mutation_p.R388C|SIDT2_uc001pqg.2_Missense_Mutation_p.R409C|SIDT2_uc001pqi.1_Intron	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	388	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	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)		CTTTCCAGGCCGCTCCTTTGA	0.557													T	117059426	C	T	117059426	3	4	197	1	0	0	0	0	1	0	0	0	14303	652	23	1	1212	1	SIDT2	11	117059426	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	9759566	117059426	17947090	52	109060											
PDZRN4	29951	broad.mit.edu	37	chr12	41967067	41967067	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcagcgaacacatcccttAcctctctccttaccacagct	4	17	2	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr12:41967067A>T	uc010skn.1	+	10	1957	c.1889A>T	c.(1888-1890)TAC>TTC	p.Y630F	PDZRN4_uc001rmq.3_Missense_Mutation_p.Y571F|PDZRN4_uc009zjz.2_Missense_Mutation_p.Y569F|PDZRN4_uc001rmr.2_Missense_Mutation_p.Y456F	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	829							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACATCCCTTACCTCTCTCCT	0.463													T	41967067	A	T	41967067	3	4	197	1	0	0	0	0	1	0	0	0	11710	391	14	5	2597	5	PDZRN4	12	41967067	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08		41967067	91884828	53	109061											
KIAA0748	9840	broad.mit.edu	37	chr12	55356738	55356738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatcacttccaacacaActtggtccaaactgttcctt	4	14	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr12:55356738A>C	uc001sgn.3	-	9	1054	c.944T>G	c.(943-945)GTT>GGT	p.V315G	KIAA0748_uc001sgl.3_Missense_Mutation_p.V177G|KIAA0748_uc001sgm.3_Missense_Mutation_p.V62G|KIAA0748_uc010spb.1_Missense_Mutation_p.V62G|KIAA0748_uc010spc.1_Missense_Mutation_p.V177G|KIAA0748_uc010spd.1_Missense_Mutation_p.V315G|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	315										ovary(1)|central_nervous_system(1)	2						TTCCAACACAACTTGGTCCAA	0.532													C	55356738	A	C	55356738	3	2	197	1	0	0	0	0	1	0	0	0	8190	43	2	5	629	5	KIAA0748	12	55356738	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08	13389671	55356738	78495157	54	109062											
CUX2	23316	broad.mit.edu	37	chr12	111785892	111785892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaccaggcctcatgatGtctgtgtcacctgtcccctc	7	17	4	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr12:111785892G>T	uc001tsa.1	+	22	4377	c.4224G>T	c.(4222-4224)ATG>ATT	p.M1408I		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1408	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GCCTCATGATGTCTGTGTCAC	0.632													T	111785892	G	T	111785892	3	4	197	1	0	0	0	0	1	0	0	0	4065	1377	48	5	4310	5	CUX2	12	111785892	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	56429154	111785892	22066003	55	109063											
ZMYM2	7750	broad.mit.edu	37	chr13	20568054	20568054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctgcaactcatcataAtcctggtaagcagtaagaga	8	8	3	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr13:20568054A>G	uc001umr.2	+	4	1140	c.842A>G	c.(841-843)AAT>AGT	p.N281S	ZMYM2_uc001umq.2_Missense_Mutation_p.N194S|ZMYM2_uc001ums.2_Missense_Mutation_p.N281S|ZMYM2_uc001umt.2_Missense_Mutation_p.N281S|ZMYM2_uc009zzn.1_Missense_Mutation_p.N216S	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		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)		ACTCATCATAATCCTGGTAAG	0.368													G	20568054	A	G	20568054	3	3	197	1	0	0	0	0	1	0	0	0	17697	101	4	3	844	3	ZMYM2	13	20568054	Missense_Mutation	SNP	A	TCGA-CG-5732-01A-11D-1600-08		20568054	94601824	56	109064											
KIAA0564	23078	broad.mit.edu	37	chr13	42442545	42442545	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggacacatggttttcCatcatcttctctacttttac	6	11	3	0	rs144180077	byFrequency	TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr13:42442545C>G	uc001uyj.2	-	10	1219	c.1149G>C	c.(1147-1149)ATG>ATC	p.M383I	KIAA0564_uc001uyk.2_Missense_Mutation_p.M383I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	383						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CATGGTTTTCCATCATCTTCT	0.363													G	42442545	C	G	42442545	3	3	197	1	0	0	0	0	1	0	0	0	8185	594	21	5	4716	5	KIAA0564	13	42442545	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	21874491	42442545	72727333	57	109065											
SLC15A1	6564	broad.mit.edu	37	chr13	99362010	99362010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctacctgcatctgatcggGctgaatttcaagagctccct	8	12	3	3			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr13:99362010G>A	uc001vno.2	-	13	1041	c.964C>T	c.(964-966)CCC>TCC	p.P322S		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	322	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATCTGATCGGGCTGAATTTCA	0.423													A	99362010	G	A	99362010	3	1	197	1	0	0	0	0	1	0	0	0	14398	1203	42	2	1206	2	SLC15A1	13	99362010	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	56919465	99362010	15807868	58	109066											
TTLL5	23093	broad.mit.edu	37	chr14	76245989	76245989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctagtgtcttcctggggaCtcactctaaaatttctaaga	8	9	4	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr14:76245989C>A	uc001xrx.2	+	24	2664	c.2459C>A	c.(2458-2460)ACT>AAT	p.T820N	TTLL5_uc010ask.1_Missense_Mutation_p.T834N|TTLL5_uc001xrz.2_Missense_Mutation_p.T395N|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	820					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTCCTGGGGACTCACTCTAAA	0.383													A	76245989	C	A	76245989	3	1	197	1	0	0	0	0	1	0	0	0	16727	565	20	5	2549	5	TTLL5	14	76245989	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08		76245989	31103551	59	109067											
TRIP11	9321	broad.mit.edu	37	chr14	92471128	92471128	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcttgtatctccaaatcTttctgctgaataatctgagt	7	8	4	3			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr14:92471128T>G	uc001xzy.2	-	11	3980	c.3192A>C	c.(3190-3192)AAA>AAC	p.K1064N	TRIP11_uc010auf.1_Missense_Mutation_p.K800N	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1064	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TCTCCAAATCTTTCTGCTGAA	0.333			T	PDGFRB	AML								G	92471128	T	G	92471128	3	3	197	1	0	0	0	0	1	0	0	0	16552	1606	56	5	2791	5	TRIP11	14	92471128	Missense_Mutation	SNP	T	TCGA-CG-5732-01A-11D-1600-08	16225139	92471128	14878412	60	109068											
DLK1	8788	broad.mit.edu	37	chr14	101193435	101193435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgaagccctcctgcgcgtCctcttgctcctgctggcttt	9	17	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr14:101193435C>T	uc001yhs.3	+	1	183	c.30C>T	c.(28-30)GTC>GTT	p.V10V	DLK1_uc001yhu.3_Silent_p.V10V	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	10					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				TCCTGCGCGTCCTCTTGCTCC	0.706													T	101193435	C	T	101193435	2	4	197	1	0	0	0	0	0	0	0	1	4564	842	30	4		4	DLK1	14	101193435	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08	8722307	101193435	6156105	61	109069											
TTBK2	146057	broad.mit.edu	37	chr15	43067923	43067923	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcattttctccaggcTtaaggaaatggaaagaagtt	9	6	2	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr15:43067923T>C	uc001zqo.2	-	13	1849	c.1410_splice	c.e13-1	p.C470_splice	TTBK2_uc010bcy.2_Splice_Site_p.C401_splice	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2						cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		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)		TTCTCCAGGCTTAAGGAAATG	0.393													C	43067923	T	C	43067923	5	2	197	1	0	0	0	0	0	0	1	0	16674	1623	56	3	2338	3	TTBK2	15	43067923	Splice_Site	SNP	T	TCGA-CG-5732-01A-11D-1600-08		43067923	59463469	62	109070											
FBN1	2200	broad.mit.edu	37	chr15	48788332	48788332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcaggtttgtagataaatCccttggggcaggtacagaca	12	7	1	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr15:48788332C>T	uc001zwx.1	-	20	2712	c.2384G>A	c.(2383-2385)GGA>GAA	p.G795E		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	795	EGF-like 12; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTAGATAAATCCCTTGGGGCA	0.358													T	48788332	C	T	48788332	3	4	197	1	0	0	0	0	1	0	0	0	5702	855	30	4	6419	4	FBN1	15	48788332	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	5720409	48788332	53743060	63	109071											
AEN	64782	broad.mit.edu	37	chr15	89172456	89172456	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gactcctctttctgctcacaGatccttaagctcctgaaggg	8	13	3	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr15:89172456G>C	uc002bmt.2	+	3	692	c.541_splice	c.e3-1	p.I181_splice	AEN_uc010bnm.1_Splice_Site_p.I181_splice	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene						apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0						TCTGCTCACAGATCCTTAAGC	0.602													C	89172456	G	C	89172456	5	2	197	1	0	0	0	0	0	0	1	0	351	956	33	5	546	5	AEN	15	89172456	Splice_Site	SNP	G	TCGA-CG-5732-01A-11D-1600-08	40384124	89172456	13358936	64	109072											
PPL	5493	broad.mit.edu	37	chr16	4934484	4934484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgcgccggcgctgcagcCgccgcagctctgcccgcagc	15	19	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr16:4934484C>T	uc002cyd.1	-	22	4262	c.4172G>A	c.(4171-4173)CGG>CAG	p.R1391Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1391	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCGCTGCAGCCGCCGCAGCTC	0.706													T	4934484	C	T	4934484	3	4	197	1	0	0	0	0	1	0	0	0	12334	652	23	1	1102	1	PPL	16	4934484	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08		4934484	85420269	65	109073											
ERN2	10595	broad.mit.edu	37	chr16	23706580	23706580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaactggggtccccgctCggtgcagaagtagcggagca	17	10	0	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr16:23706580C>T	uc002dma.3	-	15	2054	c.1885G>A	c.(1885-1887)GAG>AAG	p.E629K	ERN2_uc010bxp.2_Missense_Mutation_p.E577K	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	581	Protein kinase.|Cytoplasmic (Potential).				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	p.E580*(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGTCCCCGCTCGGTGCAGAAG	0.632													T	23706580	C	T	23706580	3	4	197	1	0	0	0	0	1	0	0	0	5238	893	31	1	1071	1	ERN2	16	23706580	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	18772096	23706580	66648173	66	109074											
TP53	7157	broad.mit.edu	37	chr17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-													tagttgtagtggatggtggtAcagtcagagccaacctagga							TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr17:7577594_7577595delAC	uc002gim.2	-	7	880_881	c.686_687delGT	c.(685-687)TGTfs	p.C229fs	TP53_uc002gig.1_Frame_Shift_Del_p.C229fs|TP53_uc002gih.2_Frame_Shift_Del_p.C229fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C97fs|TP53_uc010cng.1_Frame_Shift_Del_p.C97fs|TP53_uc002gii.1_Frame_Shift_Del_p.C97fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C229fs|TP53_uc010cni.1_Frame_Shift_Del_p.C229fs|TP53_uc002gij.2_Frame_Shift_Del_p.C229fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.C136fs|TP53_uc002gio.2_Frame_Shift_Del_p.C97fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	229	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> Y (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(10)|p.0?(7)|p.C229*(3)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229fs*18(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229G(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGATGGTGGTACAGTCAGAGCC	0.525		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7577595	AC	-	7577594	7	5	197	1	0	1	0	1	0	0	0	0	16378	389	14	0	603	0	TP53	17	7577594	Frame_Shift_Del	DEL	AC	TCGA-CG-5732-01A-11D-1600-08		7577594	73617616	67	109075											
STAT5B	6777	broad.mit.edu	37	chr17	40375558	40375558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acatggcatcagcaaggcttCcagctggagagctaccctgg	12	12	1	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr17:40375558C>G	uc002hzh.2	-	5	561	c.392G>C	c.(391-393)GGA>GCA	p.G131A	STAT5B_uc002hzi.3_Missense_Mutation_p.G131A	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	131					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			ovary(3)|lung(2)|skin(1)	6		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)	AGCAAGGCTTCCAGCTGGAGA	0.542													G	40375558	C	G	40375558	3	3	197	1	0	0	0	0	1	0	0	0	15268	855	30	5	2031	5	STAT5B	17	40375558	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	32797964	40375558	40819652	68	109076											
CCDC47	57003	broad.mit.edu	37	chr17	61830101	61830101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggacccagaatacttacCattaaatgtaaacaacagtg	6	8	0	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr17:61830101C>T	uc002jbs.3	-	10	1429	c.1093G>A	c.(1093-1095)GTG>ATG	p.V365M	CCDC47_uc010ddx.2_Missense_Mutation_p.V365M|CCDC47_uc002jbt.2_Missense_Mutation_p.V365M	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47 precursor	365						integral to membrane	protein binding				0						GAATACTTACCATTAAATGTA	0.373											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	61830101	C	T	61830101	3	4	197	1	0	0	0	0	1	0	0	0	2818	608	21	4	374	4	CCDC47	17	61830101	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	21454543	61830101	19365109	69	109077											
ABCA8	10351	broad.mit.edu	37	chr17	66899633	66899633	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtacttctcccaaaatAgcaatgtctgcaaaacataa	5	10	2	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr17:66899633A>G	uc002jhp.2	-	18	2465	c.2286T>C	c.(2284-2286)GCT>GCC	p.A762A	ABCA8_uc002jhq.2_Silent_p.A802A|ABCA8_uc010wqq.1_Silent_p.A802A|ABCA8_uc010wqr.1_Silent_p.A741A|ABCA8_uc002jhr.2_Silent_p.A802A	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	762						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CTCCCAAAATAGCAATGTCTG	0.388													G	66899633	A	G	66899633	2	3	197	1	0	0	0	0	0	0	0	1	38	407	15	3		3	ABCA8	17	66899633	Silent	SNP	A	TCGA-CG-5732-01A-11D-1600-08	5069532	66899633	14295577	70	109078											
SERPINB8	5271	broad.mit.edu	37	chr18	61649024	61649024	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcctttgctgaagacactGaagagtgcaggaagcatata	11	7	0	4			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr18:61649024G>T	uc002ljv.2	+	4	545	c.376G>T	c.(376-378)GAA>TAA	p.E126*	SERPINB8_uc002ljs.1_Nonsense_Mutation_p.E126*|SERPINB8_uc002ljt.2_Nonsense_Mutation_p.E126*|SERPINB8_uc002lju.2_Nonsense_Mutation_p.E126*|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	126					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TGAAGACACTGAAGAGTGCAG	0.418													T	61649024	G	T	61649024	4	4	197	1	0	0	0	0	0	1	0	0	14107	1291	45	5	386	5	SERPINB8	18	61649024	Nonsense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08		61649024	16428224	71	109079											
DPF1	8193	broad.mit.edu	37	chr19	38709248	38709248	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttcttcctcctgggaatgtCatcctccaagtcttccacct	6	15	3	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr19:38709248C>T	uc002ohl.2	-	5	589	c.562G>A	c.(562-564)GAC>AAC	p.D188N	DPF1_uc002ohm.2_Missense_Mutation_p.D188N|DPF1_uc002ohn.2_Missense_Mutation_p.D106N|DPF1_uc010xtu.1_Missense_Mutation_p.D162N|DPF1_uc010xtv.1_Missense_Mutation_p.D162N|DPF1_uc010xtw.1_Missense_Mutation_p.D162N	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	188					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTGGGAATGTCATCCTCCAAG	0.478													T	38709248	C	T	38709248	3	4	197	1	0	0	0	0	1	0	0	0	4716	826	29	4	744	4	DPF1	19	38709248	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08		38709248	20419735	72	109080											
TRPM4	54795	broad.mit.edu	37	chr19	49671854	49671854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgcggtgacccggaggaCggggtccagtttcccctgga	17	12	0	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr19:49671854C>T	uc002pmw.2	+	6	729	c.657C>T	c.(655-657)GAC>GAT	p.D219D	TRPM4_uc010emu.2_Silent_p.D219D|TRPM4_uc010yak.1_Translation_Start_Site|TRPM4_uc002pmx.2_Silent_p.D45D|TRPM4_uc010emv.2_Silent_p.D104D|TRPM4_uc010yal.1_Translation_Start_Site	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	219	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		ACCCGGAGGACGGGGTCCAGT	0.562													T	49671854	C	T	49671854	2	4	197	1	0	0	0	0	0	0	0	1	16585	535	19	1		1	TRPM4	19	49671854	Silent	SNP	C	TCGA-CG-5732-01A-11D-1600-08	10962606	49671854	9457129	73	109081											
TSHZ2	128553	broad.mit.edu	37	chr20	51872060	51872060	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccaaccacgccccggCcctgccatgcatcaacccac	6	23	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr20:51872060C>A	uc002xwo.2	+	2	3019	c.2063C>A	c.(2062-2064)GCC>GAC	p.A688D		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	688					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CACGCCCCGGCCCTGCCATGC	0.632													A	51872060	C	A	51872060	3	1	197	1	0	0	0	0	1	0	0	0	16621	739	26	5	2069	5	TSHZ2	20	51872060	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08		51872060	11153460	74	109082											
TIAM1	7074	broad.mit.edu	37	chr21	32617948	32617948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctatcccagacctgccGtcgctctcgtagaaaaatag	9	12	2	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr21:32617948G>A	uc002yow.1	-	7	1912	c.1440C>T	c.(1438-1440)GAC>GAT	p.D480D	TIAM1_uc011adk.1_Silent_p.D480D|TIAM1_uc011adl.1_Silent_p.D480D|TIAM1_uc002yox.1_Silent_p.D88D	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	480	PH 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	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CAGACCTGCCGTCGCTCTCGT	0.527													A	32617948	G	A	32617948	2	1	197	1	0	0	0	0	0	0	0	1	15887	1136	40	1		1	TIAM1	21	32617948	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08		32617948	15511947	75	109083											
TTC3	7267	broad.mit.edu	37	chr21	38538093	38538093	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acattaaaacaaaagtagaaGaaatttcaaaagcaggggag	9	4	1	2			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr21:38538093G>C	uc002yvz.2	+	33	3682	c.3577G>C	c.(3577-3579)GAA>CAA	p.E1193Q	TTC3_uc011aee.1_Missense_Mutation_p.E883Q|TTC3_uc002ywa.2_Missense_Mutation_p.E1193Q|TTC3_uc002ywb.2_Missense_Mutation_p.E1193Q|TTC3_uc010gnf.2_Missense_Mutation_p.E958Q|TTC3_uc002ywc.2_Missense_Mutation_p.E883Q|TTC3_uc002ywd.1_Missense_Mutation_p.E257Q	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1193					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AAAAGTAGAAGAAATTTCAAA	0.373													C	38538093	G	C	38538093	3	2	197	1	0	0	0	0	1	0	0	0	16694	943	33	5	3703	5	TTC3	21	38538093	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	5920145	38538093	9591802	76	109084											
GTPBP1	9567	broad.mit.edu	37	chr22	39122390	39122390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatccatccatcgcaagcGcatgcctgtcaaggaggtgc	10	13	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chr22:39122390G>A	uc003awg.2	+	8	1500	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	449					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					CATCGCAAGCGCATGCCTGTC	0.552													A	39122390	G	A	39122390	3	1	197	1	0	0	0	0	1	0	0	0	6878	1087	38	1	1376	1	GTPBP1	22	39122390	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08		39122390	12182176	77	109085											
ASMT	438	broad.mit.edu	37	chrX	1743214	1743214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctgaccacggtcagcccGacgtcacaatgcagcatgct	9	15	2	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chrX:1743214G>A	uc004cqd.2	+	4	442	c.297G>A	c.(295-297)CCG>CCA	p.P99P	ASMT_uc010ncy.2_Silent_p.P99P|ASMT_uc004cqe.2_Silent_p.P99P	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	99					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		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)				CGGTCAGCCCGACGTCACAAT	0.567													A	1743214	G	A	1743214	2	1	197	1	0	0	0	0	0	0	0	1	1045	1045	37	1		1	ASMT	23	1743214	Silent	SNP	G	TCGA-CG-5732-01A-11D-1600-08		1743214	153527346	78	109086											
HEPH	9843	broad.mit.edu	37	chrX	65476001	65476001	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgccaaaagggcatcctgGagccccatggaggacggagt	14	11	1	0			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chrX:65476001G>T	uc011moz.1	+	17	2794	c.2734G>T	c.(2734-2736)GAG>TAG	p.E912*	HEPH_uc004dwn.2_Nonsense_Mutation_p.E912*|HEPH_uc004dwo.2_Nonsense_Mutation_p.E642*|HEPH_uc010nkr.2_Nonsense_Mutation_p.E720*|HEPH_uc011mpa.1_Nonsense_Mutation_p.E912*|HEPH_uc010nks.2_Nonsense_Mutation_p.E201*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	909	Extracellular (Potential).				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GGGCATCCTGGAGCCCCATGG	0.483													T	65476001	G	T	65476001	4	4	197	1	0	0	0	0	0	1	0	0	7054	1175	41	5	2953	5	HEPH	23	65476001	Nonsense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	63732787	65476001	89794559	79	109087											
SEPT6	23157	broad.mit.edu	37	chrX	118767373	118767373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctttgactcgctggaCgaacatctgtctcatctcct	6	13	4	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chrX:118767373C>T	uc004erv.2	-	8	1304	c.1039G>A	c.(1039-1041)GTC>ATC	p.V347I	SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Missense_Mutation_p.V347I|SEPT6_uc004ert.2_Missense_Mutation_p.V347I|SEPT6_uc004eru.2_Missense_Mutation_p.V347I|SEPT6_uc004erw.2_Missense_Mutation_p.V289I|SEPT6_uc011mtv.1_Missense_Mutation_p.V289I|SEPT6_uc011mtw.1_Missense_Mutation_p.V377I	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	347	Potential.				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						ACTCGCTGGACGAACATCTGT	0.388													T	118767373	C	T	118767373	3	4	197	1	0	0	0	0	1	0	0	0	14068	536	19	1	299	1	SEPT6	23	118767373	Missense_Mutation	SNP	C	TCGA-CG-5732-01A-11D-1600-08	53291372	118767373	36503187	80	109088											
GLUD2	2747	broad.mit.edu	37	chrX	120182259	120182259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggattgctgatacctatGccagcaccatagggcactat	9	12	0	1			TCGA-CG-5732-01A-11D-1600-08	TCGA-CG-5732-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f9d3009-0ba7-40d5-a7fc-7314d364501e	247876be-3fc0-4bfc-b0c0-a1a9b184879d	g.chrX:120182259G>A	uc004eto.2	+	1	798	c.721G>A	c.(721-723)GCC>ACC	p.A241T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	241					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGATACCTATGCCAGCACCAT	0.527													A	120182259	G	A	120182259	3	1	197	1	0	0	0	0	1	0	0	0	6477	1319	46	2	723	2	GLUD2	23	120182259	Missense_Mutation	SNP	G	TCGA-CG-5732-01A-11D-1600-08	1414886	120182259	35088301	81	109089											
SCNN1D	6339	broad.mit.edu	37	chr1	1225650	1225650	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcccccctgtccccaGgcctgcctggtgtcctgctt	9	19	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1225650G>T	uc001adu.1	+	12	1795	c.1171_splice	c.e12-1	p.A391_splice	SCNN1D_uc001adt.1_Splice_Site_p.A555_splice|SCNN1D_uc001adw.2_Splice_Site_p.A457_splice|SCNN1D_uc001adx.2_Splice_Site_p.A180_splice|SCNN1D_uc001adv.2_Splice_Site_p.A391_splice	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-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;0.199)		CCTGTCCCCAGGCCTGCCTGG	0.522													T	1225650	G	T	1225650	5	4	198	1	0	0	0	0	0	0	1	0	13929	1014	35	5	1406	5	SCNN1D	1	1225650	Splice_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08		1225650	248024971	1	109090											
GLTPD1	80772	broad.mit.edu	37	chr1	1262694	1262694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagctgcggatcatggagCgcctcaggggcggcccgcag	16	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1262694C>T	uc001aeo.2	+	3	611	c.196C>T	c.(196-198)CGC>TGC	p.R66C	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	66						cytoplasm	glycolipid binding|glycolipid transporter activity				0	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)		GATCATGGAGCGCCTCAGGGG	0.657													T	1262694	C	T	1262694	3	4	198	1	0	0	0	0	1	0	0	0	6472	768	27	1	202	1	GLTPD1	1	1262694	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	37044	1262694	247987927	2	109091											
MIB2	142678	broad.mit.edu	37	chr1	1560532	1560532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggcgaggcagcgggcGgcttctactacaaggaccac	16	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1560532G>A	uc001agg.2	+	6	989	c.862G>A	c.(862-864)GGC>AGC	p.G288S	MIB2_uc001agh.2_Missense_Mutation_p.G274S|MIB2_uc001agi.2_Missense_Mutation_p.G288S|MIB2_uc001agj.2_Missense_Mutation_p.G129S|MIB2_uc001agk.2_Intron|MIB2_uc001agl.1_Missense_Mutation_p.G244S|MIB2_uc001agm.2_Intron|MIB2_uc010nyq.1_Missense_Mutation_p.G244S|MIB2_uc009vkh.2_Missense_Mutation_p.G129S|MIB2_uc001agn.2_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	288					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				0	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)		GGCAGCGGGCGGCTTCTACTA	0.627													A	1560532	G	A	1560532	3	1	198	1	0	0	0	0	1	0	0	0	9567	1116	39	1	1055	1	MIB2	1	1560532	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	297838	1560532	247690089	3	109092											
KIAA1751	85452	broad.mit.edu	37	chr1	1887262	1887262	+	Frame_Shift_Del	DEL	T	T	-													ggcggctttgtcatacaagcTtttatcttcgtaggtcagga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1887261_1887261CT>C	uc001aim.1	-	17	2201	c.2045_2045AG>G	c.(2044-2046)agcfs	p.S682fs	KIAA1751_uc009vkz.1_Frame_Shift_Del_p.S682fs	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	682										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTCATACAAGCTTTTATCTTC	0.567													-	1887262	T	-	1887262	7	5	198	1	0	1	0	1	0	0	0	0	8256	1609	56	0	248	0	KIAA1751	1	1887262	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	326730	1887262	247363359	4	109093											
SKI	6497	broad.mit.edu	37	chr1	2234480	2234480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctcttcccagtcccccGcgccttccgaaaaggacaag	7	18	1	0	rs150934009		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:2234480G>A	uc001aja.3	+	2	1105	c.1033G>A	c.(1033-1035)GCG>ACG	p.A345T		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	345					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			lung(1)|central_nervous_system(1)	2	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)		CCAGTCCCCCGCGCCTTCCGA	0.597													A	2234480	G	A	2234480	3	1	198	1	0	0	0	0	1	0	0	0	14357	1087	38	1	1039	1	SKI	1	2234480	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	347218	2234480	247016141	5	109094											
CCDC27	148870	broad.mit.edu	37	chr1	3688087	3688087	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggggacctccaagtaGgcccagccaggcccccaaat	11	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:3688087G>T	uc001akv.2	+	12	2052	c.1971G>T	c.(1969-1971)TAG>TAT	p.*657Y	LOC388588_uc001akw.3_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	657										skin(1)	1	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)		CCTCCAAGTAGGCCCAGCCAG	0.597													T	3688087	G	T	3688087	4	4	198	1	0	0	0	0	0	0	0	0	2801	995	35	5	2017	5	CCDC27	1	3688087	Nonstop_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1453607	3688087	245562534	6	109095											
ACOT7	11332	broad.mit.edu	37	chr1	6393549	6393549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttaccacaacaggaggCacctcgaggaccttgtccac	8	16	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:6393549C>T	uc001ams.2	-	4	685	c.528G>A	c.(526-528)GTG>GTA	p.V176V	ACOT7_uc010nzq.1_Silent_p.V61V|ACOT7_uc001amt.2_Silent_p.V166V|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.V125V|ACOT7_uc001amr.2_Silent_p.V146V	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	176						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CAACAGGAGGCACCTCGAGGA	0.522													T	6393549	C	T	6393549	2	4	198	1	0	0	0	0	0	0	0	1	155	697	25	2		2	ACOT7	1	6393549	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2705462	6393549	242857072	7	109096											
TAS1R1	80835	broad.mit.edu	37	chr1	6639380	6639380	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgggtaaggacttgccagaGaactacaacgaggccaaatg	12	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:6639380G>A	uc001ant.2	+	6	2262	c.2262G>A	c.(2260-2262)GAG>GAA	p.E754E	TAS1R1_uc001anu.2_Silent_p.E500E|TAS1R1_uc001anv.2_Missense_Mutation_p.R286K|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	754	Cytoplasmic (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		ACTTGCCAGAGAACTACAACG	0.557													A	6639380	G	A	6639380	2	1	198	1	0	0	0	0	0	0	0	1	15559	942	33	4		4	TAS1R1	1	6639380	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	245831	6639380	242611241	8	109097											
SLC45A1	50651	broad.mit.edu	37	chr1	8390958	8390958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccggaggagggggtcccGaaaccagcaggagaaggaat	17	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:8390958G>A	uc001apb.2	+	4	1405	c.1405G>A	c.(1405-1407)GAA>AAA	p.E469K	SLC45A1_uc001apc.2_Missense_Mutation_p.E167K	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	469					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	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)		AGGGGGTCCCGAAACCAGCAG	0.612													A	8390958	G	A	8390958	3	1	198	1	0	0	0	0	1	0	0	0	14640	1059	37	1	1419	1	SLC45A1	1	8390958	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1751578	8390958	240859663	9	109098											
GPR157	80045	broad.mit.edu	37	chr1	9171541	9171541	+	Frame_Shift_Del	DEL	C	C	-													cacagtgatgaccaacgggaCcccccagctgaggaaggagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:9171540_9171540AC>A	uc001apq.1	-	1	535	c.392_392GT>T	c.(391-393)gtcfs	p.V131fs	GPR157_uc010oad.1_Frame_Shift_Del_p.V131fs|GPR157_uc001apr.3_Frame_Shift_Del_p.V131fs	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA.	131						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|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;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GACCAACGGGACCCCCCAGCT	0.612											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	9171541	C	-	9171541	7	5	198	1	0	1	0	1	0	0	0	0	6662	507	18	0	628	0	GPR157	1	9171541	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	780583	9171541	240079080	10	109099											
CLSTN1	22883	broad.mit.edu	37	chr1	9809959	9809959	+	Frame_Shift_Del	DEL	T	T	-													cgtagtttaatttctctgtgTtttttatataaccttacaga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:9809958_9809958GT>G	uc001aqh.3	-	5	1422	c.663_663AC>C	c.(661-663)aacfs	p.N221fs	CLSTN1_uc001aqi.3_Frame_Shift_Del_p.N211fs|CLSTN1_uc010oag.2_Frame_Shift_Del_p.N221fs	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	221	Cadherin 2.				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.N221fs*5(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTCTCTGTGTTTTTTATAT	0.403													-	9809959	T	-	9809959	7	5	198	1	0	1	0	1	0	0	0	0	3561	1725	60	0	2339	0	CLSTN1	1	9809959	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	638418	9809959	239440662	11	109100											
UBE4B	10277	broad.mit.edu	37	chr1	10231281	10231281	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgacctgaaagttgaaaAccctgagaaatacggctttg	10	9	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:10231281A>C	uc001aqs.3	+	25	4132	c.3419A>C	c.(3418-3420)AAC>ACC	p.N1140T	UBE4B_uc001aqr.3_Missense_Mutation_p.N1011T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.N595T|UBE4B_uc001aqu.2_Missense_Mutation_p.N21T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1140					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		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)		AAAGTTGAAAACCCTGAGAAA	0.488													C	10231281	A	C	10231281	3	2	198	1	0	0	0	0	1	0	0	0	16880	43	2	5	3517	5	UBE4B	1	10231281	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	421322	10231281	239019340	12	109101											
PTCHD2	57540	broad.mit.edu	37	chr1	11596562	11596562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgtccatcctctacaCgctgaccgtcagcaccgccc	10	18	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:11596562C>T	uc001ash.3	+	21	4136	c.3998C>T	c.(3997-3999)ACG>ATG	p.T1333M		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1333	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		ATCCTCTACACGCTGACCGTC	0.617													T	11596562	C	T	11596562	3	4	198	1	0	0	0	0	1	0	0	0	12733	536	19	1	4076	1	PTCHD2	1	11596562	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1365281	11596562	237654059	13	109102											
PRAMEF8	391002	broad.mit.edu	37	chr1	12979762	12979762	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcttggtgcccgagcatCcgtcaattaaaggagctgga	11	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:12979762C>T	uc001aup.2	+	4	1037	c.954C>T	c.(952-954)ATC>ATT	p.I318I		NM_001012276	NP_001012276	Q5VWM4	PRAM8_HUMAN	PRAME family member 8	318	LRR 1.										0	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)		GCCCGAGCATCCGTCAATTAA	0.582													T	12979762	C	T	12979762	2	4	198	1	0	0	0	0	0	0	0	1	12440	845	30	4		4	PRAMEF8	1	12979762	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1383200	12979762	236270859	14	109103											
SPEN	23013	broad.mit.edu	37	chr1	16263839	16263839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgggagtagagcagcctcGcctcccagctggacctgcaa	13	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:16263839G>A	uc001axk.1	+	12	10412	c.10208G>A	c.(10207-10209)CGC>CAC	p.R3403H	SPEN_uc010obp.1_Missense_Mutation_p.R3362H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3403	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GAGCAGCCTCGCCTCCCAGCT	0.647													A	16263839	G	A	16263839	3	1	198	1	0	0	0	0	1	0	0	0	15037	1087	38	1	10254	1	SPEN	1	16263839	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3284077	16263839	232986782	15	109104											
EPHA2	1969	broad.mit.edu	37	chr1	16458607	16458607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagcacgcgggacagGccaaagtcagacaccttgca	10	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:16458607G>A	uc001aya.1	-	13	2414	c.2277C>T	c.(2275-2277)GGC>GGT	p.G759G		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	759	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	CGCGGGACAGGCCAAAGTCAG	0.602													A	16458607	G	A	16458607	2	1	198	1	0	0	0	0	0	0	0	1	5167	1190	42	2		2	EPHA2	1	16458607	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	194768	16458607	232792014	16	109105											
NBPF1	55672	broad.mit.edu	37	chr1	16893734	16893734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtaaaaggcacttctgtAgggctggcatgagtcagtca	12	7	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:16893734A>G	uc009vos.1	-	26	3892	c.3004T>C	c.(3004-3006)TAC>CAC	p.Y1002H	NBPF1_uc009vot.1_Missense_Mutation_p.Y385H|NBPF1_uc001ayz.1_Missense_Mutation_p.Y385H|NBPF1_uc010oce.1_Missense_Mutation_p.Y656H	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	1002	NBPF 6.					cytoplasm					0				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)		GCACTTCTGTAGGGCTGGCAT	0.473													G	16893734	A	G	16893734	3	3	198	1	0	0	0	0	1	0	0	0	10192	420	15	3	665	3	NBPF1	1	16893734	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	435127	16893734	232356887	17	109106											
ATP13A2	23400	broad.mit.edu	37	chr1	17331307	17331307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctgggactgtggggaCggctccaggctggggaagca	18	10	1	0	rs141777915		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:17331307C>T	uc001baa.2	-	5	547	c.357G>A	c.(355-357)CCG>CCA	p.P119P	ATP13A2_uc001bab.2_Silent_p.P119P|ATP13A2_uc001bac.2_Silent_p.P119P	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	119	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		ACTGTGGGGACGGCTCCAGGC	0.662													T	17331307	C	T	17331307	2	4	198	1	0	0	0	0	0	0	0	1	1124	523	19	1		1	ATP13A2	1	17331307	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	437573	17331307	231919314	18	109107											
ALDH4A1	8659	broad.mit.edu	37	chr1	19200969	19200969	+	Frame_Shift_Del	DEL	C	C	-													ccactcaccagaggctcgggCccccccaaagggctgctggc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19200968_19200968GC>G	uc001bbb.3	-	13	1844	c.1568_1568GC>C	c.(1567-1569)gccfs	p.A523fs	ALDH4A1_uc010ocu.2_Frame_Shift_Del_p.A463fs|ALDH4A1_uc001bbc.3_Frame_Shift_Del_p.A523fs|ALDH4A1_uc021ohl.1_Frame_Shift_Del_p.A472fs	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	523					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGAGGCTCGGGCCCCCCCAAA	0.597													-	19200969	C	-	19200969	7	5	198	1	0	1	0	1	0	0	0	0	501	739	26	0	132	0	ALDH4A1	1	19200969	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	1869662	19200969	230049652	19	109108											
UBR4	23352	broad.mit.edu	37	chr1	19431150	19431150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccagggccagcagaCgagctatttcctaaacagga	9	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19431150C>T	uc001bbi.2	-	86	12660	c.12656G>A	c.(12655-12657)CGT>CAT	p.R4219H	UBR4_uc001bbg.2_5'UTR|UBR4_uc001bbh.2_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4219					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		GGCCAGCAGACGAGCTATTTC	0.527													T	19431150	C	T	19431150	3	4	198	1	0	0	0	0	1	0	0	0	16901	536	19	1	2979	1	UBR4	1	19431150	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	230181	19431150	229819471	20	109109											
UBR4	23352	broad.mit.edu	37	chr1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-													tcaggtgggatgtccagcatGggggggaagccctctgcgcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19467922_19467922TG>T	uc001bbi.3	-	56	8411	c.8407_8407CA>A	c.(8407-8409)atgfs	p.M2803fs	UBR4_uc001bbk.1_Frame_Shift_Del_p.M485fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2803					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)		ATGTCCAGCATGGGGGGGAAG	0.587													-	19467923	G	-	19467923	7	5	198	1	0	1	0	1	0	0	0	0	16901	1335	47	0	7345	0	UBR4	1	19467923	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	36773	19467923	229782698	21	109110											
UBR4	23352	broad.mit.edu	37	chr1	19481550	19481550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggacacaccaccgcccGccacctggctgttactgtcc	8	19	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19481550G>A	uc001bbi.2	-	44	6324	c.6320C>T	c.(6319-6321)GCG>GTG	p.A2107V	UBR4_uc001bbl.1_Missense_Mutation_p.A44V|UBR4_uc001bbm.1_Missense_Mutation_p.A1319V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2107					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		ACCACCGCCCGCCACCTGGCT	0.483													A	19481550	G	A	19481550	3	1	198	1	0	0	0	0	1	0	0	0	16901	1087	38	1	9483	1	UBR4	1	19481550	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	13627	19481550	229769071	22	109111											
KIAA0090	23065	broad.mit.edu	37	chr1	19553887	19553887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttccccttcaccttgaCgatccgctgtacttctgggg	10	14	2	1	rs139714938		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19553887C>T	uc001bbo.2	-	18	2165	c.2122G>A	c.(2122-2124)GTC>ATC	p.V708I	KIAA0090_uc001bbp.2_Missense_Mutation_p.V707I|KIAA0090_uc001bbq.2_Missense_Mutation_p.V707I|KIAA0090_uc001bbr.2_Missense_Mutation_p.V686I	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	708	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TTCACCTTGACGATCCGCTGT	0.557													T	19553887	C	T	19553887	3	4	198	1	0	0	0	0	1	0	0	0	8153	536	19	1	883	1	KIAA0090	1	19553887	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	72337	19553887	229696734	23	109112											
DDOST	1650	broad.mit.edu	37	chr1	20987835	20987835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcccgggccgcggtgctGggctccatcttcctcctcct	11	18	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:20987835G>A	uc001bdo.1	-	1	203	c.60C>T	c.(58-60)CCC>CCT	p.P20P	DDOST_uc009vpw.1_Silent_p.P20P|DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Silent_p.P20P	NM_005216	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide-protein	20					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				0		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)		CCGCGGTGCTGGGCTCCATCT	0.662											OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	20987835	G	A	20987835	2	1	198	1	0	0	0	0	0	0	0	1	4335	1335	47	4		4	DDOST	1	20987835	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1433948	20987835	228262786	24	109113											
EIF4G3	8672	broad.mit.edu	37	chr1	21220047	21220047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtctgccttccaaaaTcagcaaaggctggtgtaaag	11	9	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:21220047T>C	uc001bec.2	-	13	2304	c.2048A>G	c.(2047-2049)GAT>GGT	p.D683G	EIF4G3_uc010odi.1_Missense_Mutation_p.D287G|EIF4G3_uc010odj.1_Missense_Mutation_p.D682G|EIF4G3_uc009vpz.2_Missense_Mutation_p.D403G|EIF4G3_uc001bed.2_Missense_Mutation_p.D683G|EIF4G3_uc001bef.2_Missense_Mutation_p.D682G|EIF4G3_uc001bee.2_Missense_Mutation_p.D689G	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	683					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			skin(1)	1		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)		CCTTCCAAAATCAGCAAAGGC	0.468													C	21220047	T	C	21220047	3	2	198	1	0	0	0	0	1	0	0	0	5038	1435	50	3	2789	3	EIF4G3	1	21220047	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	232212	21220047	228030574	25	109114											
ECE1	1889	broad.mit.edu	37	chr1	21554468	21554468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcctgcaggatcccggcCggaaacacaatctcattctt	10	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:21554468C>T	uc001bek.2	-	15	1812	c.1737G>A	c.(1735-1737)CCG>CCA	p.P579P	ECE1_uc001bem.2_Silent_p.P563P|ECE1_uc001bej.2_Silent_p.P567P|ECE1_uc001bei.2_Silent_p.P576P|ECE1_uc010odl.1_Silent_p.P579P	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	579	Extracellular (Potential).				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			ovary(2)|skin(1)	3		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)		GGATCCCGGCCGGAAACACAA	0.607													T	21554468	C	T	21554468	2	4	198	1	0	0	0	0	0	0	0	1	4889	639	23	1		1	ECE1	1	21554468	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	334421	21554468	227696153	26	109115											
ZBTB40	9923	broad.mit.edu	37	chr1	22817981	22817982	+	Frame_Shift_Ins	INS	-	-	A													tggttacccaggatgttttaINSaaaaaactagaaatgtgttc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:22817980_22817981T>TA	uc001bft.2	+	3	1296_1297	c.785_786T>TA	c.(784-786)ttafs	p.L262fs	ZBTB40_uc001bfu.2_Frame_Shift_Ins_p.L262fs|ZBTB40_uc009vqi.1_Frame_Shift_Ins_p.L262fs	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	262					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)		CAGGATGTTTTAAAAAAACTAG	0.381													A	22817982	-	A	22817981	7	5	198	1	0	1	1	0	0	0	0	0	17539	359	13	0	792	0	ZBTB40	1	22817981	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1263513	22817981	226432640	27	109116											
EPHB2	2048	broad.mit.edu	37	chr1	23111124	23111124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaggctgactttgactcGgccaccaagaccttccccaa	8	14	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:23111124G>A	uc009vqj.1	+	3	511	c.366G>A	c.(364-366)TCG>TCA	p.S122S	EPHB2_uc001bge.2_Silent_p.S122S|EPHB2_uc001bgf.2_Silent_p.S122S|EPHB2_uc010odu.1_Silent_p.S122S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	122	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		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)		ACTTTGACTCGGCCACCAAGA	0.572									Hereditary_Prostate_Cancer				A	23111124	G	A	23111124	2	1	198	1	0	0	0	0	0	0	0	1	5175	1103	39	1		1	EPHB2	1	23111124	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	293143	23111124	226139497	28	109117											
LUZP1	7798	broad.mit.edu	37	chr1	23419547	23419547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagagcaaactccctgttcCggagtcgttcccgcttatgc	10	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:23419547C>T	uc001bgk.2	-	4	1592	c.1208G>A	c.(1207-1209)CGG>CAG	p.R403Q	LUZP1_uc010odv.1_Missense_Mutation_p.R403Q|LUZP1_uc001bgl.2_Missense_Mutation_p.R403Q|LUZP1_uc001bgm.1_Missense_Mutation_p.R403Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	403						nucleus					0		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)		CTCCCTGTTCCGGAGTCGTTC	0.507													T	23419547	C	T	23419547	3	4	198	1	0	0	0	0	1	0	0	0	9086	652	23	1	2030	1	LUZP1	1	23419547	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	308423	23419547	225831074	29	109118											
MYOM3	127294	broad.mit.edu	37	chr1	24406652	24406652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccagggatgtggcccGcacctcggatgcccgtacat	12	15	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:24406652G>A	uc001bin.3	-	20	2603	c.2440C>T	c.(2440-2442)CGG>TGG	p.R814W	MYOM3_uc001bim.3_Missense_Mutation_p.R471W|MYOM3_uc001bio.2_Missense_Mutation_p.R814W	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	814	Fibronectin type-III 5.									skin(2)|ovary(1)	3		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)		GATGTGGCCCGCACCTCGGAT	0.517													A	24406652	G	A	24406652	3	1	198	1	0	0	0	0	1	0	0	0	10093	1086	38	1	1945	1	MYOM3	1	24406652	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	987105	24406652	224843969	30	109119											
GRHL3	57822	broad.mit.edu	37	chr1	24669404	24669404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagggctgcctgctgtcGggcttcaggggcaatgagac	16	10	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:24669404G>A	uc001biy.2	+	11	1369	c.1323G>A	c.(1321-1323)TCG>TCA	p.S441S	GRHL3_uc001bix.2_Silent_p.S436S|GRHL3_uc001biz.2_Silent_p.S343S	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	436					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		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)		GCCTGCTGTCGGGCTTCAGGG	0.617													A	24669404	G	A	24669404	2	1	198	1	0	0	0	0	0	0	0	1	6765	1103	39	1		1	GRHL3	1	24669404	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	262752	24669404	224581217	31	109120											
ARID1A	8289	broad.mit.edu	37	chr1	27057937	27057937	+	Frame_Shift_Del	DEL	C	C	-													agcagcacccccagagccagCccccctactcacagccacag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:27057936_27057936GC>G	uc001bmv.1	+	2	2017	c.1644_1644GC>G	c.(1642-1644)cagfs	p.Q548fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q548fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q548fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q165fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	548					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y551fs*72(1)|p.Q548*(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)		CCCAGAGCCAGCCCCCCTACT	0.647			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27057937	C	-	27057937	7	5	198	1	0	1	0	1	0	0	0	0	913	739	26	0	1655	0	ARID1A	1	27057937	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	2388533	27057937	222192684	32	109121											
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-													atgtattctcctagccgctaCcccccgcagcagcagcagca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(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)		CCTAGCCGCTACCCCCCgcag	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27100176	C	-	27100176	7	5	198	1	0	1	0	1	0	0	0	0	913	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	42239	27100176	222150445	33	109122											
FGR	2268	broad.mit.edu	37	chr1	27943449	27943449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccatgtccagtttgcGgatcttgtaatgcttcacat	9	12	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:27943449G>A	uc001boj.2	-	5	747	c.601C>T	c.(601-603)CGC>TGC	p.R201C	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.R201C|FGR_uc001bol.2_Missense_Mutation_p.R201C|FGR_uc001bom.2_Missense_Mutation_p.R201C	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	201	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		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)		TCCAGTTTGCGGATCTTGTAA	0.507													A	27943449	G	A	27943449	3	1	198	1	0	0	0	0	1	0	0	0	5874	1116	39	1	1016	1	FGR	1	27943449	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	843273	27943449	221307172	34	109123											
XKR8	55113	broad.mit.edu	37	chr1	28293415	28293417	+	In_Frame_Del	DEL	CTC	CTC	-													tcctcctgagtgacagcattCtcctggtggccacctgggtg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:28293414_28293416TCTC>T	uc001bph.1	+	2	968_970	c.891_893TCTC>T	c.(889-894)attctc>atTc	p.L299del		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 8 (XKR8), mRNA.	299						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		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;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GTGACAGCATTCTCCTGGTGGCC	0.631													-	28293417	CTC	-	28293415	7	5	198	1	0	1	0	1	0	0	0	0	17434	913	32	0	902	0	XKR8	1	28293415	In_Frame_Del	DEL	CTC	TCGA-CG-5733-01A-11D-1600-08	349966	28293415	220957206	35	109124											
PHACTR4	65979	broad.mit.edu	37	chr1	28819557	28819557	+	Frame_Shift_Del	DEL	A	A	-													gaaaagaattaaatgaatttAaaagctccgagatggaggtt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:28819556_28819556TA>T	uc001bpy.3	+	11	2311	c.2076_2076TA>T	c.(2074-2076)tttfs	p.F692fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.F682fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.F666fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	682							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TAAATGAATTTAAAAGCTCCG	0.378													-	28819557	A	-	28819557	7	5	198	1	0	1	0	1	0	0	0	0	11812	363	13	0	2143	0	PHACTR4	1	28819557	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	526142	28819557	220431064	36	109125											
PUM1	9698	broad.mit.edu	37	chr1	31437642	31437642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggaggaaaagctaagGccgttataaaaactgtgtcc	13	6	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:31437642G>A	uc001bsi.1	-	14	2315	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	PUM1_uc001bsf.1_Silent_p.G400G|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.G734G|PUM1_uc001bsj.1_Silent_p.G708G|PUM1_uc010oga.1_Silent_p.G590G|PUM1_uc001bsk.1_Silent_p.G770G|PUM1_uc010ogb.1_Silent_p.G675G	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	734	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		AAAAGCTAAGGCCGTTATAAA	0.557													A	31437642	G	A	31437642	2	1	198	1	0	0	0	0	0	0	0	1	12825	1190	42	2		2	PUM1	1	31437642	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2618085	31437642	217812979	37	109126											
PEF1	553115	broad.mit.edu	37	chr1	32096305	32096305	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttctcccggaaggccTctgtcagcacctgcagctgg	11	15	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:32096305T>G	uc001bth.1	-	5	776	c.764A>C	c.(763-765)GAG>GCG	p.E255A	HCRTR1_uc010ogl.1_Intron|PEF1_uc001bte.1_3'UTR|PEF1_uc001btf.1_Missense_Mutation_p.E94A|PEF1_uc001btg.1_Missense_Mutation_p.E185A	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	255	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCGGAAGGCCTCTGTCAGCAC	0.582													G	32096305	T	G	32096305	3	3	198	1	0	0	0	0	1	0	0	0	11718	1551	54	5	94	5	PEF1	1	32096305	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	658663	32096305	217154316	38	109127											
PSMB2	5690	broad.mit.edu	37	chr1	36074928	36074928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggggccttggccaaggCtgccaggtagtccatgtaat	13	9	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:36074928C>T	uc001bzf.1	-	4	477	c.367G>A	c.(367-369)GCC>ACC	p.A123T	PSMB2_uc001bzd.1_Missense_Mutation_p.A123T|PSMB2_uc010ohz.1_Missense_Mutation_p.A98T|PSMB2_uc001bzg.1_Missense_Mutation_p.A123T	NM_002794	NP_002785	P49721	PSB2_HUMAN	proteasome beta 2 subunit	123					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				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TTGGCCAAGGCTGCCAGGTAG	0.512													T	36074928	C	T	36074928	3	4	198	1	0	0	0	0	1	0	0	0	12677	797	28	2	250	2	PSMB2	1	36074928	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3978623	36074928	213175693	39	109128											
THRAP3	9967	broad.mit.edu	37	chr1	36769406	36769406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccctcagcatgatgacCgtgaaggcgaaggcagtgac	12	11	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:36769406C>T	uc001cae.3	+	12	2880	c.2656C>T	c.(2656-2658)CGT>TGT	p.R886C	THRAP3_uc001caf.3_Missense_Mutation_p.R886C|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	886					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			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCATGATGACCGTGAAGGCGA	0.582			T	USP6	aneurysmal bone cysts								T	36769406	C	T	36769406	3	4	198	1	0	0	0	0	1	0	0	0	15871	652	23	1	2694	1	THRAP3	1	36769406	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	694478	36769406	212481215	40	109129											
GRIK3	2899	broad.mit.edu	37	chr1	37356650	37356650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaaggcatgctcctcggCattcatgacctgggcgttgg	13	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:37356650C>T	uc001caz.2	-	2	298	c.163G>A	c.(163-165)GCC>ACC	p.A55T	GRIK3_uc001cba.1_Missense_Mutation_p.A55T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	55	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGCTCCTCGGCATTCATGACC	0.507													T	37356650	C	T	37356650	3	4	198	1	0	0	0	0	1	0	0	0	6775	710	25	2	2656	2	GRIK3	1	37356650	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	587244	37356650	211893971	41	109130											
EPHA10	284656	broad.mit.edu	37	chr1	38227403	38227403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgatctcgcgcacctctGtgttcagcttcatcttgcgc	9	15	5	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:38227403G>A	uc009vvi.2	-	3	610	c.524C>T	c.(523-525)ACA>ATA	p.T175I	EPHA10_uc001cbw.3_Missense_Mutation_p.T175I	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	175	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCACCTCTGTGTTCAGCTT	0.672													A	38227403	G	A	38227403	3	1	198	1	0	0	0	0	1	0	0	0	5166	1377	48	4	2600	4	EPHA10	1	38227403	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	870753	38227403	211023218	42	109131											
DEM1	64789	broad.mit.edu	37	chr1	40980783	40980783	+	Frame_Shift_Del	DEL	G	G	-													gagctgcactatacagccaaGggggaactggagctggcgga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:40980782_40980782AG>A	uc001cfp.3	+	2	771	c.566_566AG>A	c.(565-567)aagfs	p.K189fs	DEM1_uc001cfq.3_Frame_Shift_Del_p.K189fs|DEM1_uc001cfr.3_Frame_Shift_Del_p.K189fs|DEM1_uc021omb.1_Frame_Shift_Del_p.K189fs	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	189							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						TATACAGCCAAGGGGGAACTG	0.517													-	40980783	G	-	40980783	7	5	198	1	0	1	0	1	0	0	0	0	4425	991	35	0	569	0	DEM1	1	40980783	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	2753380	40980783	208269838	43	109132											
SLC6A9	6536	broad.mit.edu	37	chr1	44463398	44463398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctctgcttggctttgtgGcatttttcaaacgctgcatg	10	9	2	0	rs146175246		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:44463398G>A	uc001cll.2	-	14	2132	c.1940C>T	c.(1939-1941)GCC>GTC	p.A647V	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.A593V|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.A578V|SLC6A9_uc001cln.2_Missense_Mutation_p.A574V|SLC6A9_uc010oko.1_Missense_Mutation_p.A463V	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	647	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCTTTGTGGCATTTTTCAA	0.647													A	44463398	G	A	44463398	3	1	198	1	0	0	0	0	1	0	0	0	14691	1203	42	2	184	2	SLC6A9	1	44463398	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3482615	44463398	204787223	44	109133											
RNF220	55182	broad.mit.edu	37	chr1	45115605	45115605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgttggcacgtgcactgCgaggagtgctggctgcggac	17	10	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:45115605C>T	uc001clv.1	+	14	1965	c.1605C>T	c.(1603-1605)TGC>TGT	p.C535C	RNF220_uc001clw.1_Silent_p.C535C|RNF220_uc010oky.1_Silent_p.C322C|RNF220_uc010okz.1_Silent_p.C277C|RNF220_uc001clx.1_Silent_p.C251C|RNF220_uc001cly.1_Silent_p.C215C|RNF220_uc001clz.1_Silent_p.C214C|RNF220_uc001cma.1_Silent_p.C214C|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	535	RING-type.				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACGTGCACTGCGAGGAGTGCT	0.647													T	45115605	C	T	45115605	2	4	198	1	0	0	0	0	0	0	0	1	13483	776	27	1		1	RNF220	1	45115605	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	652207	45115605	204135016	45	109134											
TMEM53	79639	broad.mit.edu	37	chr1	45120473	45120473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagcctgtcatagaagtGggtgtggaagagggctgtga	17	5	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:45120473G>T	uc001cmc.2	-	3	628	c.592C>A	c.(592-594)CAC>AAC	p.H198N	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.H125N|TMEM53_uc009vxh.1_Missense_Mutation_p.H81N|TMEM53_uc010ola.1_Missense_Mutation_p.H81N	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	198						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					TCATAGAAGTGGGTGTGGAAG	0.622													T	45120473	G	T	45120473	3	4	198	1	0	0	0	0	1	0	0	0	16176	1348	47	5	245	5	TMEM53	1	45120473	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4868	45120473	204130148	46	109135											
HPDL	84842	broad.mit.edu	37	chr1	45793585	45793585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcacaaggggccaggCctgcagcacgtggggctgta	17	13	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:45793585C>T	uc001cne.2	+	1	1041	c.765C>T	c.(763-765)GGC>GGT	p.G255G		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	255					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AGGGGCCAGGCCTGCAGCACG	0.647													T	45793585	C	T	45793585	2	4	198	1	0	0	0	0	0	0	0	1	7333	726	26	2		2	HPDL	1	45793585	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	673112	45793585	203457036	47	109136											
SLC5A9	200010	broad.mit.edu	37	chr1	48698138	48698138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccccatgttcttcatcGtcatgcctggcatgatcagc	7	15	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:48698138G>A	uc001cro.2	+	8	1049	c.997G>A	c.(997-999)GTC>ATC	p.V333I	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.V358I|SLC5A9_uc010omt.1_Missense_Mutation_p.V347I|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	333	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						GTTCTTCATCGTCATGCCTGG	0.572													A	48698138	G	A	48698138	3	1	198	1	0	0	0	0	1	0	0	0	14672	1145	40	1	1106	1	SLC5A9	1	48698138	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2904553	48698138	200552483	48	109137											
CC2D1B	200014	broad.mit.edu	37	chr1	52824825	52824825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtctgtgactctgtaggGgccacttgaaggaaagaagg	14	7	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:52824825G>A	uc001ctq.1	-	11	1269	c.1131C>T	c.(1129-1131)GCC>GCT	p.A377A	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Silent_p.A68A	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	377										ovary(2)	2						ACTCTGTAGGGGCCACTTGAA	0.632													A	52824825	G	A	52824825	2	1	198	1	0	0	0	0	0	0	0	1	2727	1219	43	4		4	CC2D1B	1	52824825	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4126687	52824825	196425796	49	109138											
ORC1L	4998	broad.mit.edu	37	chr1	52850933	52850933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacagcagaaacatgcaGcctaccattggtggtaaacg	11	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:52850933G>A	uc001ctt.2	-	10	1702	c.1483C>T	c.(1483-1485)CTG>TTG	p.L495L	ORC1L_uc010oni.1_Silent_p.L490L|ORC1L_uc001ctu.2_Silent_p.L495L|ORC1L_uc009vzd.2_Silent_p.L249L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	495					cell cycle checkpoint|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	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GAAACATGCAGCCTACCATTG	0.428													A	52850933	G	A	52850933	2	1	198	1	0	0	0	0	0	0	0	1	11261	985	34	2		2	ORC1L	1	52850933	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	26108	52850933	196399688	50	109139											
C1orf175	374977	broad.mit.edu	37	chr1	55118746	55118746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgcctatgttgaatctGctcccaagtcctggcttggc	11	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:55118746G>A	uc010ooe.1	+	3	471	c.147G>A	c.(145-147)CTG>CTA	p.L49L	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.L49L|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L49L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	49						integral to membrane	binding				0						TGTTGAATCTGCTCCCAAGTC	0.577													A	55118746	G	A	55118746	2	1	198	1	0	0	0	0	0	0	0	1	2016	1306	46	2		2	C1orf175	1	55118746	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2267813	55118746	194131875	51	109140											
L1TD1	54596	broad.mit.edu	37	chr1	62675694	62675694	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggctggaggaggaAgaagaagaagaggcttcagg	17	7	2	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:62675694A>G	uc001dae.3	+	4	1550	c.1248A>G	c.(1246-1248)GAA>GAG	p.E416E		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	416	Glu-rich.									ovary(1)|skin(1)	2						tggaggaggaagaagaagaag	0.249													G	62675694	A	G	62675694	2	3	198	1	0	0	0	0	0	0	0	1	8589	69	3	3		3	L1TD1	1	62675694	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	7556948	62675694	186574927	52	109141											
DOCK7	85440	broad.mit.edu	37	chr1	62979269	62979269	+	Frame_Shift_Del	DEL	T	T	-													ctattcattcgttcaaacacTtttttcccctaaaatgtaaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:62979269delT	uc001daq.2	-	33	4162	c.4128delA	c.(4126-4128)AAAfs	p.K1376fs	DOCK7_uc001dan.2_Frame_Shift_Del_p.K1237fs|DOCK7_uc001dao.2_Frame_Shift_Del_p.K1237fs|DOCK7_uc001dap.2_Frame_Shift_Del_p.K1345fs|DOCK7_uc001dam.2_Frame_Shift_Del_p.K556fs|DOCK7_uc010oov.1_Frame_Shift_Del_p.K115fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1376					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			ovary(2)	2						GTTCAAACACTTTTTTCCCCT	0.348													-	62979269	T	-	62979269	7	5	198	1	0	1	0	1	0	0	0	0	4692	1606	56	0	2366	0	DOCK7	1	62979269	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	303575	62979269	186271352	53	109142											
UBE2U	148581	broad.mit.edu	37	chr1	64671363	64671363	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagatatgatggaatgGgaagttgaaattgaaggtct	14	1	1	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:64671363G>T	uc001dbn.1	+	2	352	c.108G>T	c.(106-108)TGG>TGT	p.W36C		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	36							ATP binding|protein binding|ubiquitin-protein ligase activity				0						TGATGGAATGGGAAGTTGAAA	0.289													T	64671363	G	T	64671363	3	4	198	1	0	0	0	0	1	0	0	0	16871	1241	43	5	114	5	UBE2U	1	64671363	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1692094	64671363	184579258	54	109143											
SGIP1	84251	broad.mit.edu	37	chr1	67207114	67207114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatcaagaaaaggtttgCtgcaggtaaatgagtatctt	9	6	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:67207114C>T	uc001dcr.2	+	24	2676	c.2459C>T	c.(2458-2460)GCT>GTT	p.A820V	SGIP1_uc010opd.1_Missense_Mutation_p.A420V|SGIP1_uc001dcs.2_Missense_Mutation_p.A420V|SGIP1_uc001dct.2_Missense_Mutation_p.A422V|SGIP1_uc009wat.2_Missense_Mutation_p.A614V|SGIP1_uc001dcu.2_Missense_Mutation_p.A325V	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	820					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			ovary(3)	3						AAAAGGTTTGCTGCAGGTAAA	0.398													T	67207114	C	T	67207114	3	4	198	1	0	0	0	0	1	0	0	0	14206	797	28	2	2553	2	SGIP1	1	67207114	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2535751	67207114	182043507	55	109144											
IFI44L	10964	broad.mit.edu	37	chr1	79106770	79106770	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggttcttcaagacaacttTttaaacatgagtagatctat	7	6	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:79106770T>G	uc010oro.1	+	7	1292	c.1113T>G	c.(1111-1113)TTT>TTG	p.F371L	IFI44L_uc010orp.1_Missense_Mutation_p.F108L|IFI44L_uc010orq.1_Missense_Mutation_p.F108L	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	371						cytoplasm					0						AAGACAACTTTTTAAACATGA	0.299													G	79106770	T	G	79106770	3	3	198	1	0	0	0	0	1	0	0	0	7518	1838	64	5	1135	5	IFI44L	1	79106770	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	11899656	79106770	170143851	56	109145											
COL24A1	255631	broad.mit.edu	37	chr1	86307793	86307793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccagagggtcctggttgGccctgatggccctacgaaag	13	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:86307793G>A	uc001dlj.2	-	41	3570	c.3528C>T	c.(3526-3528)GGC>GGT	p.G1176G	COL24A1_uc001dli.2_Silent_p.G312G|COL24A1_uc010osd.1_Silent_p.G476G|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1176	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTCCTGGTTGGCCCTGATGGC	0.363													A	86307793	G	A	86307793	2	1	198	1	0	0	0	0	0	0	0	1	3683	1190	42	2		2	COL24A1	1	86307793	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7201023	86307793	162942828	57	109146											
SLC44A3	126969	broad.mit.edu	37	chr1	95290108	95290108	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagactcctctttggctaTgacagctttggcaacatgtg	11	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:95290108T>C	uc001dqv.3	+	3	302	c.195T>C	c.(193-195)TAT>TAC	p.Y65Y	SLC44A3_uc001dqx.3_Silent_p.Y65Y|SLC44A3_uc010otq.1_Silent_p.Y29Y|SLC44A3_uc010otr.1_Silent_p.Y29Y|SLC44A3_uc001dqw.3_Silent_p.Y17Y|SLC44A3_uc010ots.1_Silent_p.Y17Y|SLC44A3_uc009wds.2_5'UTR|SLC44A3_uc010ott.1_Silent_p.Y17Y|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	65						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TCTTTGGCTATGACAGCTTTG	0.532													C	95290108	T	C	95290108	2	2	198	1	0	0	0	0	0	0	0	1	14637	1471	51	3		3	SLC44A3	1	95290108	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	8982315	95290108	153960513	58	109147											
TMEM56	148534	broad.mit.edu	37	chr1	95657379	95657379	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcatctctcacatcagAcaagagaaagccaaaaatag	6	9	4	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:95657379A>G	uc001drb.2	+	7	1038	c.747A>G	c.(745-747)AGA>AGG	p.R249R	RWDD3_uc001drd.3_Intron|uc001dre.1_Intron|TMEM56_uc001drc.2_Silent_p.R249R	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	249						integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTCACATCAGACAAGAGAAAG	0.368													G	95657379	A	G	95657379	2	3	198	1	0	0	0	0	0	0	0	1	16180	272	10	3		3	TMEM56	1	95657379	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	367271	95657379	153593242	59	109148											
CELSR2	1952	broad.mit.edu	37	chr1	109792844	109792844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccaggggacgaggctcttCgggggcctgcgcccccatgg	17	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:109792844C>T	uc001dxa.3	+	1	204	c.143C>T	c.(142-144)TCG>TTG	p.S48L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	48	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		CGAGGCTCTTCGGGGGCCTGC	0.532													T	109792844	C	T	109792844	3	4	198	1	0	0	0	0	1	0	0	0	3222	893	31	1	145	1	CELSR2	1	109792844	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	14135465	109792844	139457777	60	109149											
CELSR2	1952	broad.mit.edu	37	chr1	109810552	109810552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcctgcgcaacgccaCgcagcacacagctggctact	9	18	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:109810552C>T	uc001dxa.3	+	17	6249	c.6188C>T	c.(6187-6189)ACG>ATG	p.T2063M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2063	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		CGCAACGCCACGCAGCACACA	0.677													T	109810552	C	T	109810552	3	4	198	1	0	0	0	0	1	0	0	0	3222	536	19	1	6254	1	CELSR2	1	109810552	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	17708	109810552	139440069	61	109150											
GPR61	83873	broad.mit.edu	37	chr1	110086921	110086921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagacctctgagttccTggagcagcaactcaccagcg	12	12	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:110086921T>C	uc001dxy.2	+	2	1960	c.1277T>C	c.(1276-1278)CTG>CCG	p.L426P		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	426	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		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)		TCTGAGTTCCTGGAGCAGCAA	0.612													C	110086921	T	C	110086921	3	2	198	1	0	0	0	0	1	0	0	0	6702	1580	55	3	1279	3	GPR61	1	110086921	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	276369	110086921	139163700	62	109151											
GNAT2	2780	broad.mit.edu	37	chr1	110146144	110146144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctctttatgtaattcccCgcatcatcataggagttgtt	8	9	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:110146144C>T	uc001dya.2	-	8	1110	c.897G>A	c.(895-897)GCG>GCA	p.A299A		NM_005272	NP_005263	P19087	GNAT2_HUMAN	guanine nucleotide binding protein, alpha	299					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGTAATTCCCCGCATCATCAT	0.383													T	110146144	C	T	110146144	2	4	198	1	0	0	0	0	0	0	0	1	6512	639	23	1		1	GNAT2	1	110146144	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	59223	110146144	139104477	63	109152											
HBXIP	10542	broad.mit.edu	37	chr1	110944145	110944145	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaacagatatgagcaTcaagaggccattttgtgcac	10	8	1	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:110944145T>C	uc001dzr.2	-	4	580	c.522A>G	c.(520-522)TGA>TGG	p.*174W		NM_006402	NP_006393	O43504	HBXIP_HUMAN	hepatitis B virus x-interacting protein	174					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			large_intestine(1)|ovary(1)|pancreas(1)	3		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		GATATGAGCATCAAGAGGCCA	0.403													C	110944145	T	C	110944145	4	2	198	1	0	0	0	0	0	0	0	0	6988	1448	50	3	3	3	HBXIP	1	110944145	Nonstop_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	798001	110944145	138306476	64	109153											
KCNA10	3744	broad.mit.edu	37	chr1	111061012	111061012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaaactgggccggttcCgatcaaagaaatactcattt	7	10	3	1	rs150165049		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:111061012C>T	uc001dzt.1	-	1	786	c.398G>A	c.(397-399)CGG>CAG	p.R133Q		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	133						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		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)		GGGCCGGTTCCGATCAAAGAA	0.453													T	111061012	C	T	111061012	3	4	198	1	0	0	0	0	1	0	0	0	8002	652	23	1	1141	1	KCNA10	1	111061012	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	116867	111061012	138189609	65	109154											
KCNA3	3738	broad.mit.edu	37	chr1	111216931	111216931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccggccggcggatgcgGcccccggactgatagtagta	15	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:111216931G>A	uc001dzv.1	-	1	725	c.501C>T	c.(499-501)GGC>GGT	p.G167G		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	167						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		GGCGGATGCGGCCCCCGGACT	0.632													A	111216931	G	A	111216931	2	1	198	1	0	0	0	0	0	0	0	1	8004	1190	42	2		2	KCNA3	1	111216931	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	155919	111216931	138033690	66	109155											
RHOC	389	broad.mit.edu	37	chr1	113244211	113244211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcttgcggacctggaggCcagcccgagtggccatctca	13	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:113244211C>T	uc001ecp.1	-	6	833	c.533G>A	c.(532-534)GGC>GAC	p.G178D	RHOC_uc001ecq.1_Missense_Mutation_p.G178D|RHOC_uc001ecr.1_Missense_Mutation_p.G178D|RHOC_uc009wgk.1_Missense_Mutation_p.G178D	NM_001042679	NP_001036144	P08134	RHOC_HUMAN	ras homolog gene family, member C precursor	178					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			ovary(1)	1	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)		GACCTGGAGGCCAGCCCGAGT	0.602													T	113244211	C	T	113244211	3	4	198	1	0	0	0	0	1	0	0	0	13336	739	26	2	52	2	RHOC	1	113244211	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2027280	113244211	136006410	67	109156											
MAGI3	260425	broad.mit.edu	37	chr1	114225581	114225581	+	Frame_Shift_Del	DEL	C	C	-													atgatgaacagtcaccattaCccccatcttcacattttgct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:114225580_114225580AC>A	uc001edk.3	+	20	3571	c.3390_3390AC>A	c.(3388-3390)ttafs	p.L1130fs	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1155					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)		AGTCACCATTACCCCCATCTT	0.328													-	114225581	C	-	114225581	7	5	198	1	0	1	0	1	0	0	0	0	9192	507	18	0	3527	0	MAGI3	1	114225581	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	981370	114225581	135025040	68	109157											
CSDE1	7812	broad.mit.edu	37	chr1	115263163	115263163	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagatgctggcacttacctgAtctttcacacattccactgt	7	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:115263163A>T	uc001efk.2	-	17	2515	c.2049T>A	c.(2047-2049)GAT>GAA	p.D683E	CSDE1_uc001efi.2_Missense_Mutation_p.D729E|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D652E|CSDE1_uc001efm.2_Missense_Mutation_p.D698E|CSDE1_uc009wgv.2_Missense_Mutation_p.D683E|CSDE1_uc001efn.2_Missense_Mutation_p.D652E	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	683	CSD 9.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CACTTACCTGATCTTTCACAC	0.443													T	115263163	A	T	115263163	3	4	198	1	0	0	0	0	1	0	0	0	3929	330	12	5	363	5	CSDE1	1	115263163	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1037582	115263163	133987458	69	109158											
ATP1A1	476	broad.mit.edu	37	chr1	116926744	116926744	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgaagaaagaagtttctAtggtaagtactaggaggaat	11	3	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:116926744A>G	uc001ege.2	+	2	460	c.121A>G	c.(121-123)ATG>GTG	p.M41V	ATP1A1_uc010owv.1_Missense_Mutation_p.M10V|ATP1A1_uc001egd.2_Missense_Mutation_p.M41V|ATP1A1_uc010oww.1_Missense_Mutation_p.M41V|ATP1A1_uc010owx.1_Missense_Mutation_p.M10V	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	41	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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)	AGAAGTTTCTATGGTAAGTAC	0.368													G	116926744	A	G	116926744	3	3	198	1	0	0	0	0	1	0	0	0	1128	449	16	3	143	3	ATP1A1	1	116926744	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1663581	116926744	132323877	70	109159											
ATP1A1	476	broad.mit.edu	37	chr1	116937732	116937732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgtcctcctcgcagGtttctgccacctctttctgc	8	17	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:116937732G>T	uc001ege.2	+	13	2000	c.1661G>T	c.(1660-1662)GGT>GTT	p.G554V	ATP1A1_uc010owv.1_Missense_Mutation_p.G523V|ATP1A1_uc010oww.1_Missense_Mutation_p.G554V|ATP1A1_uc010owx.1_Missense_Mutation_p.G523V|C1orf203_uc009whb.2_Intron	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	554	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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)	CTCCTCGCAGGTTTCTGCCAC	0.488													T	116937732	G	T	116937732	3	4	198	1	0	0	0	0	1	0	0	0	1128	1275	44	5	1727	5	ATP1A1	1	116937732	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	10988	116937732	132312889	71	109160											
ITGA10	8515	broad.mit.edu	37	chr1	145527708	145527709	+	Frame_Shift_Ins	INS	-	-	G													cagtgtcttacaacatgttgINSggggtggacagcgatggtga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:145527707_145527708T>TG	uc001eoa.3	+	1	223_224	c.147_148T>TG	c.(145-150)gttgggfs	p.V49fs	ITGA10_uc001enz.1_Frame_Shift_Ins_p.V49fs|ITGA10_uc010oyv.2_Frame_Shift_Ins_p.L24fs|ITGA10_uc009wiw.3_Intron|ITGA10_uc010oyw.2_5'Flank	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	49					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)					TACAACATGTTGGGGGTGGACA	0.525													G	145527709	-	G	145527708	7	5	198	1	0	1	1	0	0	0	0	0	7873	1348	47	0	154	0	ITGA10	1	145527708	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	28589976	145527708	103722913	72	109161											
FMO5	2330	broad.mit.edu	37	chr1	146680415	146680415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcctgggaacataccTgtgtttaggcttcaggccaa	9	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:146680415T>C	uc001epi.2	-	6	1218	c.829A>G	c.(829-831)AGA>GGA	p.R277G	FMO5_uc001eph.3_Missense_Mutation_p.R277G|FMO5_uc001epj.2_Missense_Mutation_p.R277G|FMO5_uc001epk.3_Missense_Mutation_p.R277G	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	277						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					GGAACATACCTGTGTTTAGGC	0.408													C	146680415	T	C	146680415	3	2	198	1	0	0	0	0	1	0	0	0	5958	1594	55	3	931	3	FMO5	1	146680415	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1152707	146680415	102570206	73	109162											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858742	149858744	+	In_Frame_Del	DEL	ACA	ACA	-													ggcgggcaacgcggctcgggAcaacaagaagacgcgcatca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:149858742_149858744delACA	uc001etd.2	+	1	218_220	c.218_220delACA	c.(217-222)GACAAC>GAC	p.N74del	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	74					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGCTCGGGACAACAAGAAGAC	0.675													-	149858744	ACA	-	149858742	7	5	198	1	0	1	0	1	0	0	0	0	7178	275	10	0	220	0	HIST2H2AC	1	149858742	In_Frame_Del	DEL	ACA	TCGA-CG-5733-01A-11D-1600-08	3178327	149858742	99391879	74	109163											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531071	150531071	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccccccagcagagaggcCtgtgacatggggccctgtac	13	15	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:150531071C>A	uc001eux.2	+	15	2741	c.2505C>A	c.(2503-2505)GCC>GCA	p.A835A	ADAMTSL4_uc001euw.2_Silent_p.A835A|ADAMTSL4_uc009wlw.2_Silent_p.A858A|ADAMTSL4_uc010pcg.1_Silent_p.A796A|ADAMTSL4_uc009wlx.2_Translation_Start_Site	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	835	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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)			GCAGAGAGGCCTGTGACATGG	0.632													A	150531071	C	A	150531071	2	1	198	1	0	0	0	0	0	0	0	1	277	668	24	5		5	ADAMTSL4	1	150531071	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	672329	150531071	98719550	75	109164											
SETDB1	9869	broad.mit.edu	37	chr1	150933382	150933382	+	Frame_Shift_Del	DEL	C	C	-													acaacttccaaggactcccaCcccccagatcttggaccccc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:150933382delC	uc001evu.2	+	16	3034	c.2844delC	c.(2842-2844)CACfs	p.H948fs	SETDB1_uc001evv.2_Frame_Shift_Del_p.H948fs|SETDB1_uc009wmg.1_Frame_Shift_Del_p.H948fs	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	948	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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			AGGACTCCCACCCCCCAGATC	0.572													-	150933382	C	-	150933382	7	5	198	1	0	1	0	1	0	0	0	0	14138	506	18	0	2902	0	SETDB1	1	150933382	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	402311	150933382	98317239	76	109165											
PRUNE	58497	broad.mit.edu	37	chr1	150990325	150990325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtgctgggaaatgaagCctgtgatttggactccacag	13	7	0	2	rs141143258		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:150990325C>T	uc001ewh.1	+	2	213	c.77C>T	c.(76-78)GCC>GTC	p.A26V	PRUNE_uc001ewi.1_5'UTR|PRUNE_uc010pco.1_5'UTR|PRUNE_uc001ewj.1_5'UTR	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	26						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	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)			GGAAATGAAGCCTGTGATTTG	0.348													T	150990325	C	T	150990325	3	4	198	1	0	0	0	0	1	0	0	0	12640	739	26	2	83	2	PRUNE	1	150990325	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	56943	150990325	98260296	77	109166											
TCHH	7062	broad.mit.edu	37	chr1	152082655	152082655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctctcccactcctggCgccttctcttctcccgttcc	5	21	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152082655C>T	uc001ezp.2	-	2	3038	c.3038G>A	c.(3037-3039)CGC>CAC	p.R1013H	TCHH_uc009wne.1_Missense_Mutation_p.R1013H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1013	10 X 30 AA tandem repeats.|4-4.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccactcctggcgccttctctt	0.219													T	152082655	C	T	152082655	3	4	198	1	0	0	0	0	1	0	0	0	15697	768	27	1	2797	1	TCHH	1	152082655	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1092330	152082655	97167966	78	109167											
FLG	2312	broad.mit.edu	37	chr1	152283237	152283237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagatgaagcttgtctGtgcccaatgcctgagtgtct	11	10	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152283237G>A	uc001ezu.1	-	3	4161	c.4125C>T	c.(4123-4125)CAC>CAT	p.H1375H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1375	Ser-rich.|Filaggrin 8.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCTGTGCCCAATGC	0.532									Ichthyosis				A	152283237	G	A	152283237	2	1	198	1	0	0	0	0	0	0	0	1	5922	1368	48	4		4	FLG	1	152283237	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	200582	152283237	96967384	79	109168											
FLG	2312	broad.mit.edu	37	chr1	152286331	152286331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagagtgcccatgactgGctctgtcttcatcatgggac	11	12	4	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152286331G>A	uc001ezu.1	-	3	1067	c.1031C>T	c.(1030-1032)GCC>GTC	p.A344V	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	344	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGACTGGCTCTGTCTTC	0.562									Ichthyosis				A	152286331	G	A	152286331	3	1	198	1	0	0	0	0	1	0	0	0	5922	1203	42	2	11158	2	FLG	1	152286331	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3094	152286331	96964290	80	109169											
LCE5A	254910	broad.mit.edu	37	chr1	152484105	152484105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaagtgtcctcccaagtGtcccccaaaatgccctcccc	5	19	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152484105G>A	uc001ezy.2	+	2	271	c.95G>A	c.(94-96)TGT>TAT	p.C32Y	CRCT1_uc001ezz.2_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	32	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cctcccaagtgtcccccaaAA	0.478													A	152484105	G	A	152484105	3	1	198	1	0	0	0	0	1	0	0	0	8675	1377	48	4	97	4	LCE5A	1	152484105	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	197774	152484105	96766516	81	109170											
S100A2	6273	broad.mit.edu	37	chr1	153536254	153536255	+	Frame_Shift_Ins	INS	-	-	C													tgcagaagttccttcatttcINSccccttactcagcttgaact							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:153536253_153536254T>TC	uc001fcb.3	-	1	435_436	c.97_98A>GA	c.(97-99)gaafs	p.E33fs		NM_005978	NP_005969	P29034	S10A2_HUMAN	Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA.	34	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCTTCATTTCCCCCTTACTC	0.574													C	153536255	-	C	153536254	7	5	198	1	0	1	1	0	0	0	0	0	13778	864	30	0	204	0	S100A2	1	153536254	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1052149	153536254	95714367	82	109171											
INTS3	65123	broad.mit.edu	37	chr1	153732007	153732007	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcttttccagtcaaaTgtcgctgcctccaatgccaa	5	16	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:153732007T>C	uc009wom.2	+	12	1376	c.1155T>C	c.(1153-1155)AAT>AAC	p.N385N	INTS3_uc001fct.2_Silent_p.N385N|INTS3_uc001fcu.2_Silent_p.N77N|INTS3_uc001fcv.2_Silent_p.N179N|INTS3_uc010peb.1_Silent_p.N179N|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	386					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	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)			TCCAGTCAAATGTCGCTGCCT	0.483													C	153732007	T	C	153732007	2	2	198	1	0	0	0	0	0	0	0	1	7779	1461	51	3		3	INTS3	1	153732007	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	195753	153732007	95518614	83	109172											
IL6R	3570	broad.mit.edu	37	chr1	154408549	154408549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggcaaggcgagtggagCgagtggagcccggaggccat	19	9	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:154408549C>T	uc001fez.1	+	6	1349	c.912C>T	c.(910-912)AGC>AGT	p.S304S	IL6R_uc001ffa.1_Silent_p.S304S	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	304	Fibronectin type-III.|Extracellular (Potential).|WSXWS motif.				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 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			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCGAGTGGAGCGAGTGGAGCC	0.572													T	154408549	C	T	154408549	2	4	198	1	0	0	0	0	0	0	0	1	7702	767	27	1		1	IL6R	1	154408549	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	676542	154408549	94842072	84	109173											
FLAD1	80308	broad.mit.edu	37	chr1	154960591	154960591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacccccagggacacactcAggacaccaacaccttctttc	5	18	2	0	rs145148009		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:154960591A>G	uc001fgf.1	+	2	737	c.383A>G	c.(382-384)CAG>CGG	p.Q128R	FLAD1_uc001fgc.2_Missense_Mutation_p.Q29R|FLAD1_uc001fgd.1_Missense_Mutation_p.Q128R|FLAD1_uc001fge.1_Missense_Mutation_p.Q31R|FLAD1_uc001fgg.1_Missense_Mutation_p.Q31R|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	128	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	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)			GGACACACTCAGGACACCAAC	0.557													G	154960591	A	G	154960591	3	3	198	1	0	0	0	0	1	0	0	0	5920	188	7	3	464	3	FLAD1	1	154960591	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	552042	154960591	94290030	85	109174											
MUC1	4582	broad.mit.edu	37	chr1	155161828	155161828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggctggcctggtgactGggaccgaggtgacatcctgt	16	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155161828G>A	uc010pft.1	-	2	371	c.305C>T	c.(304-306)CCA>CTA	p.P102L	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.P111L|MUC1_uc001fiw.1_Missense_Mutation_p.P102L			P15941	MUC1_HUMAN	SubName: Full=MUC1 isoform M13;	102	Extracellular (Potential).|3.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(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;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGGTGACTGGGACCGAGGT	0.697			T	IGH@	B-NHL								A	155161828	G	A	155161828	3	1	198	1	0	0	0	0	1	0	0	0	9970	1363	47	4		4	MUC1	1	155161828	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	201237	155161828	94088793	86	109175											
GBA	2629	broad.mit.edu	37	chr1	155209817	155209818	+	Frame_Shift_Ins	INS	-	-	AC													acagtatgtggcattgcagaINScacacaccaccgagctgtag					rs145773486		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155209816_155209817G>GAC	uc001fjh.3	-	2	333_334	c.167_168C>GTC	c.(166-168)gtcfs	p.V56fs	GBA_uc021pau.1_5'Flank|GBA_uc010pfx.2_Frame_Shift_Ins_p.V56fs|GBA_uc010pfw.2_Intron|GBA_uc001fjl.3_Frame_Shift_Ins_p.V56fs|GBA_uc001fjk.3_Frame_Shift_Ins_p.V56fs|GBA_uc010pfy.2_5'UTR|GBA_uc009wqk.2_Intron	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	56					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|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)	TGGCATTGCAGACACACACCAC	0.584									Gaucher disease type I				AC	155209818	-	AC	155209817	7	5	198	1	0	1	1	0	0	0	0	0	6266	275	10	0	1479	0	GBA	1	155209817	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	47989	155209817	94040804	87	109176											
FDPS	2224	broad.mit.edu	37	chr1	155287966	155287966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtcatgacagccgggcGtgggtttggatgccatcaat	14	9	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155287966G>A	uc001fkc.2	+	6	787	c.568G>A	c.(568-570)GTG>ATG	p.V190M	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.V124M|FDPS_uc001fke.2_Missense_Mutation_p.V190M|FDPS_uc001fkf.2_Missense_Mutation_p.V124M|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	190					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ACAGCCGGGCGTGGGTTTGGA	0.493													A	155287966	G	A	155287966	3	1	198	1	0	0	0	0	1	0	0	0	5803	1145	40	1	586	1	FDPS	1	155287966	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	78149	155287966	93962655	88	109177											
GON4L	54856	broad.mit.edu	37	chr1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-													tggcccaggcctgagtgtcaTttttttccctctctttgagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155823171_155823171AT>A	uc001flz.2	-	1	498	c.401_401AT>T	c.(400-402)atgfs	p.M134fs	GON4L_uc001fly.1_Frame_Shift_Del_p.M134fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fma.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.M134fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.M134fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K133K(1)		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)					CCTGAGTGTCATTTTTTTCCC	0.458													-	155823172	T	-	155823172	7	5	198	1	0	1	0	1	0	0	0	0	6572	1493	52	0	6563	0	GON4L	1	155823172	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	535206	155823172	93427449	89	109178											
UBQLN4	56893	broad.mit.edu	37	chr1	156020296	156020296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctccatgaagttgGcagagcccaggcctaggctg	14	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:156020296G>A	uc001fna.2	-	4	551	c.527C>T	c.(526-528)GCC>GTC	p.A176V	UBQLN4_uc010pgx.1_Missense_Mutation_p.A156V	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	176						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					CATGAAGTTGGCAGAGCCCAG	0.592													A	156020296	G	A	156020296	3	1	198	1	0	0	0	0	1	0	0	0	16896	1203	42	2	1310	2	UBQLN4	1	156020296	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	197124	156020296	93230325	90	109179											
ISG20L2	81875	broad.mit.edu	37	chr1	156696793	156696793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccacaatgtggcagggggGaagaatgtactcgtcataaa	13	7	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:156696793G>A	uc001fps.1	-	1	913	c.652C>T	c.(652-654)CCC>TCC	p.P218S	ISG20L2_uc001fpt.1_Missense_Mutation_p.P218S|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	218	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCAGGGGGGAAGAATGTAC	0.522											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	156696793	G	A	156696793	3	1	198	1	0	0	0	0	1	0	0	0	7855	1174	41	4	421	4	ISG20L2	1	156696793	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	676497	156696793	92553828	91	109180											
FCRL3	115352	broad.mit.edu	37	chr1	157666960	157666961	+	Frame_Shift_Ins	INS	-	-	T													atctgagatctcaggctcctINSttttttgatgctgtgagtca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:157666959_157666960C>CT	uc001fqz.4	-	5	1106_1107	c.814_815G>AG	c.(814-816)aggfs	p.R272fs	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Frame_Shift_Ins_p.R272fs|FCRL3_uc001frc.1_Frame_Shift_Ins_p.R272fs	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	272						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)					TCTCAGGCTCCTTTTTTTGATG	0.545													T	157666961	-	T	157666960	7	5	198	1	0	1	1	0	0	0	0	0	5796	1608	56	0	1430	0	FCRL3	1	157666960	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	970167	157666960	91583661	92	109181											
CD5L	922	broad.mit.edu	37	chr1	157805637	157805638	+	Frame_Shift_Ins	INS	-	-	C													tactcactctcacacgatgcINScccagcatcttcatcatgtg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:157805636_157805637G>GC	uc001frk.4	-	2	507_508	c.364_365C>GC	c.(364-366)gcafs	p.A122fs		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	122	SRCR 1.				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)			CTCACACGATGCCCCAGCATCT	0.505													C	157805638	-	C	157805637	7	5	198	1	0	1	1	0	0	0	0	0	3027	739	26	0	695	0	CD5L	1	157805637	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	138677	157805637	91444984	93	109182											
OR10T2	128360	broad.mit.edu	37	chr1	158368943	158368943	+	Frame_Shift_Del	DEL	A	A	-													tggtgcaagcaaagccaaggAaaaagaacagctgggtggca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:158368942_158368942GA>G	uc010pih.2	-	0	315	c.315_315TC>C	c.(313-315)ttcfs	p.F105fs		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAAGCCAAGGAAAAAGAACA	0.498													-	158368943	A	-	158368943	7	5	198	1	0	1	0	1	0	0	0	0	10919	246	9	0	632	0	OR10T2	1	158368943	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	563306	158368943	90881678	94	109183											
OR10X1	128367	broad.mit.edu	37	chr1	158548958	158548958	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcttgccctcagctgaaggGatcctgaggacagtagaaat	12	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:158548958G>T	uc010pin.1	-	1	732	c.732C>A	c.(730-732)ATC>ATA	p.I244I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	244	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CAGCTGAAGGGATCCTGAGGA	0.458													T	158548958	G	T	158548958	2	4	198	1	0	0	0	0	0	0	0	1	10922	1164	41	5		5	OR10X1	1	158548958	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	180015	158548958	90701663	95	109184											
OR10J5	127385	broad.mit.edu	37	chr1	159505535	159505535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagataggttggttaTgaaaaatgaggctcaaaagc	12	5	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:159505535T>C	uc010piw.1	-	1	263	c.263A>G	c.(262-264)CAT>CGT	p.H88R		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					AGGTTGGTTATGAAAAATGAG	0.443													C	159505535	T	C	159505535	3	2	198	1	0	0	0	0	1	0	0	0	10912	1464	51	3	668	3	OR10J5	1	159505535	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	956577	159505535	89745086	96	109185											
KCNJ10	3766	broad.mit.edu	37	chr1	160011433	160011433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctggcaggtaggaagtgCgcacctgacaggtggcactg	15	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160011433C>T	uc001fuw.1	-	2	1040	c.890G>A	c.(889-891)CGC>CAC	p.R297H		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	297	Cytoplasmic (By similarity).		R -> C (in SESAME).			integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGGAAGTGCGCACCTGACA	0.532													T	160011433	C	T	160011433	3	4	198	1	0	0	0	0	1	0	0	0	8044	768	27	1	253	1	KCNJ10	1	160011433	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	505898	160011433	89239188	97	109186											
IGSF8	93185	broad.mit.edu	37	chr1	160064939	160064939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgggcagggccctcAtagccggtcacattgcagga	13	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160064939A>G	uc001fva.2	-	2	207	c.162T>C	c.(160-162)TAT>TAC	p.Y54Y	IGSF8_uc001fuz.2_Silent_p.Y54Y|IGSF8_uc009wtf.2_Silent_p.Y54Y	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	54	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	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)			CAGGGCCCTCATAGCCGGTCA	0.617													G	160064939	A	G	160064939	2	3	198	1	0	0	0	0	0	0	0	1	7604	224	8	3		3	IGSF8	1	160064939	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	53506	160064939	89185682	98	109187											
ATP1A4	480	broad.mit.edu	37	chr1	160146362	160146362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggataatctggtgaaccacCgtctcattggcatggcctat	10	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160146362C>T	uc001fve.3	+	17	3039	c.2560C>T	c.(2560-2562)CGT>TGT	p.R854C	ATP1A4_uc001fvf.3_Intron|ATP1A4_uc001fvg.2_Missense_Mutation_p.R357C|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	854	Helical; (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGAACCACCGTCTCATTGG	0.562													T	160146362	C	T	160146362	3	4	198	1	0	0	0	0	1	0	0	0	1131	652	23	1	2626	1	ATP1A4	1	160146362	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	81423	160146362	89104259	99	109188											
SLAMF7	57823	broad.mit.edu	37	chr1	160722026	160722026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggtttactccactgtggaAataccgaaaaaggtaagaag	10	7	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160722026A>G	uc001fwq.2	+	6	939	c.924A>G	c.(922-924)GAA>GAG	p.E308E	SLAMF7_uc010pjn.1_Silent_p.E214E|SLAMF7_uc001fws.2_Silent_p.E201E|SLAMF7_uc001fwr.2_Missense_Mutation_p.N274D|SLAMF7_uc010pjo.1_Silent_p.E177E|SLAMF7_uc010pjp.1_Silent_p.E161E|SLAMF7_uc010pjq.1_Missense_Mutation_p.N143D|SLAMF7_uc010pjr.1_Missense_Mutation_p.N127D	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	308	Cytoplasmic (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCACTGTGGAAATACCGAAAA	0.363													G	160722026	A	G	160722026	2	3	198	1	0	0	0	0	0	0	0	1	14369	11	1	3		3	SLAMF7	1	160722026	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	575664	160722026	88528595	100	109189											
LY9	4063	broad.mit.edu	37	chr1	160769735	160769735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcaaaagctacctgggccGactagacatcaccaagtgga	11	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160769735G>A	uc001fwu.2	+	2	367	c.317G>A	c.(316-318)CGA>CAA	p.R106Q	LY9_uc001fwt.2_Missense_Mutation_p.R106Q|LY9_uc010pjs.1_Missense_Mutation_p.R106Q|LY9_uc001fwv.2_Missense_Mutation_p.R106Q|LY9_uc001fww.2_Missense_Mutation_p.R106Q|LY9_uc001fwx.2_Missense_Mutation_p.R106Q|LY9_uc001fwy.1_Missense_Mutation_p.R8Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	106	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCTGGGCCGACTAGACATC	0.443													A	160769735	G	A	160769735	3	1	198	1	0	0	0	0	1	0	0	0	9101	1058	37	1	323	1	LY9	1	160769735	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	47709	160769735	88480886	101	109190											
PPOX	5498	broad.mit.edu	37	chr1	161140288	161140288	+	Frame_Shift_Del	DEL	C	C	-													ttccctgagcaggacgggagCccccctggcctcagagtgac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:161140287_161140287GC>G	uc001fyj.2	+	9	1366	c.1076_1076GC>G	c.(1075-1077)agcfs	p.S359fs	PPOX_uc001fyg.2_Frame_Shift_Del_p.S359fs|PPOX_uc010pkg.1_Frame_Shift_Del_p.S197fs|PPOX_uc001fyi.2_Frame_Shift_Del_p.S197fs|PPOX_uc010pkh.1_Frame_Shift_Del_p.S104fs	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	359					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGACGGGAGCCCCCCTGGC	0.547													-	161140288	C	-	161140288	7	5	198	1	0	1	0	1	0	0	0	0	12348	738	26	0	1111	0	PPOX	1	161140288	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	370553	161140288	88110333	102	109191											
OLFML2B	25903	broad.mit.edu	37	chr1	161989766	161989766	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaagtctccctcgcaGggattgagggccgatggggg	17	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:161989766G>T	uc001gbu.2	-	2	805	c.381C>A	c.(379-381)CCC>CCA	p.P127P	OLFML2B_uc010pkq.1_Silent_p.P127P	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	127										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCCCTCGCAGGGATTGAGGG	0.602													T	161989766	G	T	161989766	2	4	198	1	0	0	0	0	0	0	0	1	10858	987	35	5		5	OLFML2B	1	161989766	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	849478	161989766	87260855	103	109192											
C1orf111	284680	broad.mit.edu	37	chr1	162343898	162343898	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcagcaggactattgaaGgcctggcagctgccggagga	15	9	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:162343898G>T	uc001gbx.2	-	3	790	c.726C>A	c.(724-726)GCC>GCA	p.A242A		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	242										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GACTATTGAAGGCCTGGCAGC	0.547													T	162343898	G	T	162343898	2	4	198	1	0	0	0	0	0	0	0	1	1984	987	35	5		5	C1orf111	1	162343898	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	354132	162343898	86906723	104	109193											
MPZL1	9019	broad.mit.edu	37	chr1	167757115	167757115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcacagtgacaagattaAcaagtcagagtctgtggtgt	10	7	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:167757115A>G	uc001geo.2	+	6	969	c.767A>G	c.(766-768)AAC>AGC	p.N256S	MPZL1_uc001gep.2_3'UTR|MPZL1_uc001geq.2_Missense_Mutation_p.N106S|MPZL1_uc009wvh.2_RNA	NM_003953	NP_003944	O95297	MPZL1_HUMAN	myelin protein zero-like 1 isoform a	256	Cytoplasmic (Potential).				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			ovary(2)	2	all_hematologic(923;0.215)					GACAAGATTAACAAGTCAGAG	0.453													G	167757115	A	G	167757115	3	3	198	1	0	0	0	0	1	0	0	0	9749	43	2	3	789	3	MPZL1	1	167757115	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	5413217	167757115	81493506	105	109194											
SLC19A2	10560	broad.mit.edu	37	chr1	169446628	169446628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtaagagagatgacaTtcaggctgaacagcgaccag	12	9	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:169446628T>C	uc001gge.3	-	2	776	c.572A>G	c.(571-573)AAT>AGT	p.N191S	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	191	Extracellular (Potential).				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				0	all_hematologic(923;0.208)					AGAGATGACATTCAGGCTGAA	0.502													C	169446628	T	C	169446628	3	2	198	1	0	0	0	0	1	0	0	0	14429	1493	52	3	941	3	SLC19A2	1	169446628	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1689513	169446628	79803993	106	109195											
SELP	6403	broad.mit.edu	37	chr1	169560682	169560682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgaggattcaaggggCatttcccatcatctaaaatc	8	10	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:169560682C>A	uc001ggi.3	-	15	2485	c.2420G>T	c.(2419-2421)TGC>TTC	p.C807F	SELP_uc001ggh.2_Missense_Mutation_p.C602F|SELP_uc009wvr.2_Missense_Mutation_p.C806F	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	807	Cytoplasmic (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTCAAGGGGCATTTCCCATC	0.313													A	169560682	C	A	169560682	3	1	198	1	0	0	0	0	1	0	0	0	14019	710	25	5	80	5	SELP	1	169560682	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	114054	169560682	79689939	107	109196											
GORAB	92344	broad.mit.edu	37	chr1	170508634	170508634	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactgggacttgagaattcCcatgatggtcacaacaatgt	10	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:170508634C>A	uc001gha.2	+	2	447	c.420C>A	c.(418-420)TCC>TCA	p.S140S	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Silent_p.S140S|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	140						Golgi apparatus|nucleus					0						TTGAGAATTCCCATGATGGTC	0.448													A	170508634	C	A	170508634	2	1	198	1	0	0	0	0	0	0	0	1	6574	610	22	5		5	GORAB	1	170508634	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	947952	170508634	78741987	108	109197											
PRRX1	5396	broad.mit.edu	37	chr1	170633439	170633439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgggcaacctcgacaCcctgcaggcgaaaaagaact	10	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:170633439C>T	uc001ghf.2	+	1	127	c.80C>T	c.(79-81)ACC>ATC	p.T27I	PRRX1_uc001ghe.2_Missense_Mutation_p.T27I	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	27						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACCTCGACACCCTGCAGGCG	0.662													T	170633439	C	T	170633439	3	4	198	1	0	0	0	0	1	0	0	0	12612	507	18	4	82	4	PRRX1	1	170633439	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	124805	170633439	78617182	109	109198											
TNN	63923	broad.mit.edu	37	chr1	175096159	175096159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcatattgacctggacgCccccctctgctcagatccac	9	16	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:175096159C>T	uc001gkl.1	+	13	3096	c.2983C>T	c.(2983-2985)CCC>TCC	p.P995S		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	995	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACCTGGACGCCCCCCTCTGC	0.507													T	175096159	C	T	175096159	3	4	198	1	0	0	0	0	1	0	0	0	16320	739	26	2	3029	2	TNN	1	175096159	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4462720	175096159	74154462	110	109199											
TNR	7143	broad.mit.edu	37	chr1	175331848	175331848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcctccctgccccgcacGctgttgaggctgatttcgta	9	15	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:175331848G>A	uc001gkp.1	-	12	2886	c.2805C>T	c.(2803-2805)AGC>AGT	p.S935S	TNR_uc009wwu.1_Silent_p.S935S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	935	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGCCCCGCACGCTGTTGAGGC	0.552													A	175331848	G	A	175331848	2	1	198	1	0	0	0	0	0	0	0	1	16335	1078	38	1		1	TNR	1	175331848	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	235689	175331848	73918773	111	109200											
PAPPA2	60676	broad.mit.edu	37	chr1	176564398	176564398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcgtctgcagcacgaggCactgaatgaggccttcagcc	12	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:176564398C>T	uc001gkz.2	+	3	2822	c.1658C>T	c.(1657-1659)GCA>GTA	p.A553V	PAPPA2_uc001gky.1_Missense_Mutation_p.A553V|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	553	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CAGCACGAGGCACTGAATGAG	0.562													T	176564398	C	T	176564398	3	4	198	1	0	0	0	0	1	0	0	0	11433	710	25	2	1664	2	PAPPA2	1	176564398	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1232550	176564398	72686223	112	109201											
CACNA1E	777	broad.mit.edu	37	chr1	181706711	181706711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgctactttgagatgtGcatcctcctggtgattgcag	11	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:181706711G>A	uc001gow.2	+	23	3638	c.3473G>A	c.(3472-3474)TGC>TAC	p.C1158Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.C1046Y|CACNA1E_uc001gox.1_Missense_Mutation_p.C384Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.C384Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1158	III.|Helical; Name=S1 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTTGAGATGTGCATCCTCCTG	0.637													A	181706711	G	A	181706711	3	1	198	1	0	0	0	0	1	0	0	0	2542	1319	46	2	3563	2	CACNA1E	1	181706711	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5142313	181706711	67543910	113	109202											
C1orf14	81626	broad.mit.edu	37	chr1	182908622	182908622	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattaattctttcttcaatAagtgcagtataattctcaca	3	7	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:182908622A>G	uc001gpu.2	-	4	1122	c.837T>C	c.(835-837)CTT>CTC	p.L279L	C1orf14_uc001gpv.2_Silent_p.L160L|C1orf14_uc010pnz.1_Silent_p.L137L|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	351											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TTTCTTCAATAAGTGCAGTAT	0.284													G	182908622	A	G	182908622	2	3	198	1	0	0	0	0	0	0	0	1	2000	349	13	3		3	C1orf14	1	182908622	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1201911	182908622	66341999	114	109203											
LAMC2	3918	broad.mit.edu	37	chr1	183190045	183190045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcattcagccagctgcCgcagctctgcagaatacagt	11	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:183190045C>T	uc001gqa.2	+	5	903	c.589C>T	c.(589-591)CGC>TGC	p.R197C	LAMC2_uc001gpz.3_Missense_Mutation_p.R197C|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	197					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGCCAGCTGCCGCAGCTCTGC	0.468													T	183190045	C	T	183190045	3	4	198	1	0	0	0	0	1	0	0	0	8615	652	23	1	607	1	LAMC2	1	183190045	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	281423	183190045	66060576	115	109204											
LAMC2	3918	broad.mit.edu	37	chr1	183206601	183206601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaactggaaagaagaaGcacagcagctcttacagaat	11	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:183206601G>A	uc001gqa.2	+	18	3030	c.2716G>A	c.(2716-2718)GCA>ACA	p.A906T	LAMC2_uc001gpz.3_Missense_Mutation_p.A906T|LAMC2_uc010poa.1_Missense_Mutation_p.A606T	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	906	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						GAAAGAAGAAGCACAGCAGCT	0.328													A	183206601	G	A	183206601	3	1	198	1	0	0	0	0	1	0	0	0	8615	971	34	2	2786	2	LAMC2	1	183206601	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	16556	183206601	66044020	116	109205											
RGL1	23179	broad.mit.edu	37	chr1	183861220	183861220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttcatagggaccgaatGctgatgtttgaagaactttc	9	8	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:183861220G>A	uc001gqo.2	+	9	1222	c.1065G>A	c.(1063-1065)ATG>ATA	p.M355I	RGL1_uc010pof.1_Missense_Mutation_p.M160I|RGL1_uc001gqm.2_Missense_Mutation_p.M390I|RGL1_uc010pog.1_Missense_Mutation_p.M353I|RGL1_uc010poh.1_Missense_Mutation_p.M353I|RGL1_uc010poi.1_Missense_Mutation_p.M355I	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	355	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)|ovary(4)|lung(2)	11						GGGACCGAATGCTGATGTTTG	0.423													A	183861220	G	A	183861220	3	1	198	1	0	0	0	0	1	0	0	0	13276	1319	46	2	1204	2	RGL1	1	183861220	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	654619	183861220	65389401	117	109206											
HMCN1	83872	broad.mit.edu	37	chr1	186037087	186037087	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagctaccatcacctgGtttaaggatggcactccttt	7	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186037087G>A	uc001grq.1	+	50	8056	c.7827G>A	c.(7825-7827)TGG>TGA	p.W2609*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2609	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCATCACCTGGTTTAAGGATG	0.423													A	186037087	G	A	186037087	4	1	198	1	0	0	0	0	0	1	0	0	7220	1270	44	4	8025	4	HMCN1	1	186037087	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2175867	186037087	63213534	118	109207											
HMCN1	83872	broad.mit.edu	37	chr1	186140530	186140530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcaatgccataggaagTttccattgtggatgtgaacc	10	7	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186140530T>C	uc001grq.1	+	101	15865	c.15636T>C	c.(15634-15636)AGT>AGC	p.S5212S	HMCN1_uc001grs.1_Silent_p.S781S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5212	EGF-like 3; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCATAGGAAGTTTCCATTGTG	0.378													C	186140530	T	C	186140530	2	2	198	1	0	0	0	0	0	0	0	1	7220	1722	60	3		3	HMCN1	1	186140530	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	103443	186140530	63110091	119	109208											
PRG4	10216	broad.mit.edu	37	chr1	186277106	186277106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacaagcccgctccaaCtacccctaaggggactgctc	9	16	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186277106C>T	uc001gru.3	+	7	2306	c.2255C>T	c.(2254-2256)ACT>ATT	p.T752I	PRG4_uc001grt.3_Missense_Mutation_p.T711I|PRG4_uc009wyl.2_Missense_Mutation_p.T659I|PRG4_uc009wym.2_Missense_Mutation_p.T618I|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	752	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|47; approximate.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCCGCTCCAACTACCCCTAAG	0.602													T	186277106	C	T	186277106	3	4	198	1	0	0	0	0	1	0	0	0	12481	565	20	4	2277	4	PRG4	1	186277106	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	136576	186277106	62973515	120	109209											
PTGS2	5743	broad.mit.edu	37	chr1	186646796	186646796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccccatggcccagcccGttggtgaaagctggccctcg	11	16	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186646796G>A	uc001gsb.2	-	5	761	c.624C>T	c.(622-624)AAC>AAT	p.N208N	PTGS2_uc009wyo.2_Silent_p.N55N	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	208					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			ovary(1)|central_nervous_system(1)	2					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)	GGCCCAGCCCGTTGGTGAAAG	0.423													A	186646796	G	A	186646796	2	1	198	1	0	0	0	0	0	0	0	1	12756	1136	40	1		1	PTGS2	1	186646796	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	369690	186646796	62603825	121	109210											
RGS1	5996	broad.mit.edu	37	chr1	192545020	192545020	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaaccactcattcacTtctagacgacaaaatgcaaa	6	10	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:192545020T>G	uc001gsi.1	+	1	164	c.98T>G	c.(97-99)CTT>CGT	p.L33R	RGS1_uc010pou.1_Missense_Mutation_p.L33R	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	33					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				ACTCATTCACTTCTAGACGAC	0.408													G	192545020	T	G	192545020	3	3	198	1	0	0	0	0	1	0	0	0	13292	1609	56	5	100	5	RGS1	1	192545020	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	5898224	192545020	56705601	122	109211											
B3GALT2	8707	broad.mit.edu	37	chr1	193149798	193149798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgggtagaggtctggtgGcatgtaccacttgctatctt	12	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:193149798G>A	uc001gtc.3	-	2	1610	c.895C>T	c.(895-897)CCA>TCA	p.P299S	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	299	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						AGGTCTGGTGGCATGTACCAC	0.423													A	193149798	G	A	193149798	3	1	198	1	0	0	0	0	1	0	0	0	1248	1203	42	2	377	2	B3GALT2	1	193149798	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	604778	193149798	56100823	123	109212											
C1orf106	55765	broad.mit.edu	37	chr1	200880697	200880697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcccgcgaccaagccccCgctgccccacgccgcctgcc	8	24	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:200880697C>T	uc001gvo.2	+	9	1361	c.1331C>T	c.(1330-1332)CCG>CTG	p.P444L	C1orf106_uc010ppm.1_Missense_Mutation_p.P359L	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	444										skin(2)|ovary(1)	3						ACCAAGCCCCCGCTGCCCCAC	0.692													T	200880697	C	T	200880697	3	4	198	1	0	0	0	0	1	0	0	0	1980	652	23	1	1365	1	C1orf106	1	200880697	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	7730899	200880697	48369924	124	109213											
CACNA1S	779	broad.mit.edu	37	chr1	201039450	201039450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcttctggaatgggcacGgccttctctttcagctgcag	12	12	3	0	rs113659687	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:201039450G>A	uc001gvv.2	-	17	2537	c.2310C>T	c.(2308-2310)GCC>GCT	p.A770A		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	770	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAATGGGCACGGCCTTCTCTT	0.607													A	201039450	G	A	201039450	2	1	198	1	0	0	0	0	0	0	0	1	2547	1103	39	1		1	CACNA1S	1	201039450	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	158753	201039450	48211171	125	109214											
PKP1	5317	broad.mit.edu	37	chr1	201291200	201291200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggagtataacgcccGcaacgcctacaccgagaagt	10	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:201291200G>A	uc001gwd.2	+	9	1756	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PKP1_uc001gwe.2_Missense_Mutation_p.R481H|PKP1_uc009wzm.2_Missense_Mutation_p.R89H	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	502					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			ovary(2)	2						TATAACGCCCGCAACGCCTAC	0.607													A	201291200	G	A	201291200	3	1	198	1	0	0	0	0	1	0	0	0	11984	1087	38	1	1539	1	PKP1	1	201291200	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	251750	201291200	47959421	126	109215											
ELF3	1999	broad.mit.edu	37	chr1	201984366	201984366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacgggagatcctggaacGggtggatggccggcgactcg	17	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:201984366G>T	uc001gxg.3	+	8	4223	c.1031G>T	c.(1030-1032)CGG>CTG	p.R344L	ELF3_uc001gxi.3_Missense_Mutation_p.R344L|ELF3_uc001gxh.3_Missense_Mutation_p.R344L	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	344	ETS.				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				0						ATCCTGGAACGGGTGGATGGC	0.567													T	201984366	G	T	201984366	3	4	198	1	0	0	0	0	1	0	0	0	5055	1116	39	5	1061	5	ELF3	1	201984366	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	693166	201984366	47266255	127	109216											
PTPN7	5778	broad.mit.edu	37	chr1	202128510	202128510	+	Frame_Shift_Del	DEL	C	C	-													aacggctgtgctctggagcgCcccccatgggcttggaccat					rs144275491		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:202128510delC	uc001gxm.1	-	2	152	c.21delG	c.(19-21)GGGfs	p.G7fs	PTPN7_uc001gxl.1_Frame_Shift_Del_p.G46fs|PTPN7_uc001gxn.1_Frame_Shift_Del_p.G7fs|PTPN7_uc010ppv.1_5'UTR|PTPN7_uc010ppw.1_5'UTR|PTPN7_uc010ppx.1_Frame_Shift_Del_p.G81fs|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	7						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CTCTGGAGCGCCCCCCATGGG	0.632													-	202128510	C	-	202128510	7	5	198	1	0	1	0	1	0	0	0	0	12793	726	26	0	1097	0	PTPN7	1	202128510	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	144144	202128510	47122111	128	109217											
MYBPH	4608	broad.mit.edu	37	chr1	203138136	203138136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtttccggatctctaGggtgcagacgccttgctcag	14	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:203138136G>T	uc001gzh.1	-	9	1374	c.1315C>A	c.(1315-1317)CTA>ATA	p.L439I	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	439	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CGGATCTCTAGGGTGCAGACG	0.562													T	203138136	G	T	203138136	3	4	198	1	0	0	0	0	1	0	0	0	10014	991	35	5	126	5	MYBPH	1	203138136	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1009626	203138136	46112485	129	109218											
PLEKHA6	22874	broad.mit.edu	37	chr1	204214839	204214839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctccttttggatttgccGgttcagcacctcattctgaa	8	11	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:204214839G>A	uc001hau.2	-	14	2253	c.1936C>T	c.(1936-1938)CGG>TGG	p.R646W	PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	646										ovary(3)|pancreas(1)	4	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)			TGGATTTGCCGGTTCAGCACC	0.582													A	204214839	G	A	204214839	3	1	198	1	0	0	0	0	1	0	0	0	12060	1115	39	1	1246	1	PLEKHA6	1	204214839	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1076703	204214839	45035782	130	109219											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438816	204438816	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttgtcatgccggagccGggacagggcatcatactcca	11	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:204438816G>T	uc001haw.2	-	3	594	c.115C>A	c.(115-117)CGG>AGG	p.R39R	PIK3C2B_uc010pqv.1_Silent_p.R39R|PIK3C2B_uc001hax.1_Silent_p.R39R|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	39	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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			TGCCGGAGCCGGGACAGGGCA	0.592													T	204438816	G	T	204438816	2	4	198	1	0	0	0	0	0	0	0	1	11910	1115	39	5		5	PIK3C2B	1	204438816	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	223977	204438816	44811805	131	109220											
PIGR	5284	broad.mit.edu	37	chr1	207107960	207107960	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttggctgggcagggcctGgcagcccgtgttattccact	14	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:207107960G>A	uc001hez.2	-	6	1694	c.1510C>T	c.(1510-1512)CAG>TAG	p.Q504*	PIGR_uc009xbz.2_Nonsense_Mutation_p.Q504*	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	504	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGCAGGGCCTGGCAGCCCGTG	0.587													A	207107960	G	A	207107960	4	1	198	1	0	0	0	0	0	1	0	0	11897	1357	47	4	808	4	PIGR	1	207107960	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2669144	207107960	42142661	132	109221											
PLXNA2	5362	broad.mit.edu	37	chr1	208218053	208218053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctgagatgacactcaccGagccaggcgagaacaccatc	10	13	2	3	rs140111660		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:208218053G>A	uc001hgz.2	-	20	4432	c.3674C>T	c.(3673-3675)TCG>TTG	p.S1225L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1225	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACACTCACCGAGCCAGGCGA	0.597													A	208218053	G	A	208218053	3	1	198	1	0	0	0	0	1	0	0	0	12120	1059	37	1	2062	1	PLXNA2	1	208218053	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1110093	208218053	41032568	133	109222											
USH2A	7399	broad.mit.edu	37	chr1	216052336	216052336	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgagtaactttttgactTaacactgcggaagtcacatt	8	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:216052336T>C	uc001hku.1	-	42	8715	c.8328A>G	c.(8326-8328)TTA>TTG	p.L2776L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2776	Fibronectin type-III 14.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTTTGACTTAACACTGCGG	0.448										HNSCC(13;0.011)			C	216052336	T	C	216052336	2	2	198	1	0	0	0	0	0	0	0	1	17033	1751	61	3		3	USH2A	1	216052336	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	7834283	216052336	33198285	134	109223											
HHIPL2	79802	broad.mit.edu	37	chr1	222721257	222721257	+	Frame_Shift_Del	DEL	G	G	-													gggcccgtaatccaggcactGggggtgtccctgcagcaagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:222721256_222721256TG>T	uc001hnh.1	-	0	189	c.131_131CA>A	c.(130-132)cagfs	p.Q44fs		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	44					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATCCAGGCACTGGGGGTGTCC	0.612													-	222721257	G	-	222721257	7	5	198	1	0	1	0	1	0	0	0	0	7094	1357	47	0	2080	0	HHIPL2	1	222721257	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	6668921	222721257	26529364	135	109224											
MIA3	375056	broad.mit.edu	37	chr1	222828037	222828037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccgcaactcactacaAgctgccaaagctggactgga	10	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:222828037A>C	uc001hnl.2	+	18	4518	c.4509A>C	c.(4507-4509)CAA>CAC	p.Q1503H	MIA3_uc001hnm.2_Missense_Mutation_p.Q381H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1503	Cytoplasmic (Potential).|Potential.				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			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ACTCACTACAAGCTGCCAAAG	0.423													C	222828037	A	C	222828037	3	2	198	1	0	0	0	0	1	0	0	0	9565	69	3	5	4579	5	MIA3	1	222828037	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	106780	222828037	26422584	136	109225											
TLR5	7100	broad.mit.edu	37	chr1	223285360	223285360	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgacaaattgagaacttgGaggttgtcaagtccgtaaaa	10	5	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:223285360G>A	uc001hnv.1	-	4	1460	c.1014C>T	c.(1012-1014)CTC>CTT	p.L338L	TLR5_uc001hnw.1_Silent_p.L338L	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	338	Extracellular (Potential).|LRR 7.				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			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		TGAGAACTTGGAGGTTGTCAA	0.388													A	223285360	G	A	223285360	2	1	198	1	0	0	0	0	0	0	0	1	15951	1161	41	4		4	TLR5	1	223285360	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	457323	223285360	25965261	137	109226											
TP53BP2	7159	broad.mit.edu	37	chr1	223981100	223981100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaccctcattccatgagCgatacgctctgagccagttt	7	13	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:223981100C>T	uc010pvb.1	-	14	3059	c.2767G>A	c.(2767-2769)GCT>ACT	p.A923T	TP53BP2_uc001hod.2_Missense_Mutation_p.A794T|TP53BP2_uc010puz.1_Missense_Mutation_p.A156T|TP53BP2_uc010pva.1_Missense_Mutation_p.A562T	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	917	Mediates interaction with APC2.				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			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATTCCATGAGCGATACGCTCT	0.423													T	223981100	C	T	223981100	3	4	198	1	0	0	0	0	1	0	0	0	16381	768	27	1	657	1	TP53BP2	1	223981100	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	695740	223981100	25269521	138	109227											
DEGS1	8560	broad.mit.edu	37	chr1	224363470	224363470	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagagggccgggagaggaCgccggagggaaaggaagggg	24	6	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:224363470C>T	uc001hoi.2	+	1	13	c.-160C>T	c.(-162--158)GACGC>GATGC			NM_144780	NP_659004	O15121	DEGS1_HUMAN	degenerative spermatocyte homolog 1, lipid						sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity				0	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CGGGAGAGGACGCCGGAGGGA	0.642													T	224363470	C	T	224363470	1	4	198	1	0	0	0	0	0	0	0	0	4422	551	19	1		1	DEGS1	1	224363470	Translation_Start_Site	SNP	C	TCGA-CG-5733-01A-11D-1600-08	382370	224363470	24887151	139	109228											
LBR	3930	broad.mit.edu	37	chr1	225591105	225591105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtactcgtcacgagcttctCggtggacaagcaacatggtg	13	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:225591105C>T	uc001hoy.2	-	14	1891	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	LBR_uc001hoz.2_Missense_Mutation_p.R583Q	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	583					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ACGAGCTTCTCGGTGGACAAG	0.383													T	225591105	C	T	225591105	3	4	198	1	0	0	0	0	1	0	0	0	8652	884	31	1	103	1	LBR	1	225591105	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1227635	225591105	23659516	140	109229											
TMEM63A	9725	broad.mit.edu	37	chr1	226044616	226044616	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccgggcactcacttggtCcagtgagactccagcagtgt	11	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:226044616C>T	uc001hpm.1	-	16	1729	c.1479G>A	c.(1477-1479)TGG>TGA	p.W493*		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	493						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CTCACTTGGTCCAGTGAGACT	0.612													T	226044616	C	T	226044616	4	4	198	1	0	0	0	0	0	1	0	0	16187	856	30	4	980	4	TMEM63A	1	226044616	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	453511	226044616	23206005	141	109230											
OBSCN	84033	broad.mit.edu	37	chr1	228444500	228444500	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaagctgagcttcagctcGaaagtgcgcatggaggctgt	14	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:228444500G>A	uc009xez.1	+	15	4502	c.4458G>A	c.(4456-4458)TCG>TCA	p.S1486S	OBSCN_uc001hsn.2_Silent_p.S1486S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1486	Ig-like 15.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTTCAGCTCGAAAGTGCGCA	0.687													A	228444500	G	A	228444500	2	1	198	1	0	0	0	0	0	0	0	1	10812	1045	37	1		1	OBSCN	1	228444500	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2399884	228444500	20806121	142	109231											
OBSCN	84033	broad.mit.edu	37	chr1	228538569	228538569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggttcgtgaacaaggtccGggcctcaccctttgtggagg	14	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:228538569G>A	uc009xez.1	+	77	18388	c.18344G>A	c.(18343-18345)CGG>CAG	p.R6115Q	OBSCN_uc001hsn.2_Missense_Mutation_p.R6115Q|OBSCN_uc001hsr.1_Missense_Mutation_p.R744Q|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6115	Ig-like 53.			R -> L (in Ref. 1; CAC44768).	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AACAAGGTCCGGGCCTCACCC	0.488													A	228538569	G	A	228538569	3	1	198	1	0	0	0	0	1	0	0	0	10812	1116	39	1	18646	1	OBSCN	1	228538569	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	94069	228538569	20712052	143	109232											
GALNT2	2590	broad.mit.edu	37	chr1	230372168	230372168	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgactacagcaatgatcgTgagtactgacactgatttta	9	7	0	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:230372168T>C	uc010pwa.1	+	5	613	c.541_splice	c.e5+2	p.P181_splice	GALNT2_uc010pvy.1_Splice_Site_p.P143_splice|GALNT2_uc010pvz.1_Splice_Site	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2						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			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GCAATGATCGTGAGTACTGAC	0.448													C	230372168	T	C	230372168	5	2	198	1	0	0	0	0	0	0	1	0	6213	1710	59	3	561	3	GALNT2	1	230372168	Splice_Site	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1833599	230372168	18878453	144	109233											
HEATR1	55127	broad.mit.edu	37	chr1	236715409	236715409	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagcagcaaatcgaaccTgaaagggataaaagagcaaa	9	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:236715409T>C	uc001hyd.1	-	44	6363	c.6238_splice	c.e44-1	p.V2080_splice	HEATR1_uc009xgh.1_Splice_Site_p.V1242_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAATCGAACCTGAAAGGGATA	0.338													C	236715409	T	C	236715409	5	2	198	1	0	0	0	0	0	0	1	0	7027	1594	55	3	206	3	HEATR1	1	236715409	Splice_Site	SNP	T	TCGA-CG-5733-01A-11D-1600-08	6343241	236715409	12535212	145	109234											
OPN3	23596	broad.mit.edu	37	chr1	241767854	241767854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacgttcataggccagcAcggttagggtggcaatggaa	14	7	1	0	rs117720055	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:241767854A>G	uc001hza.2	-	2	546	c.401T>C	c.(400-402)GTG>GCG	p.V134A	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_Intron	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	134	Helical; Name=3; (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATAGGCCAGCACGGTTAGGGT	0.507													G	241767854	A	G	241767854	3	3	198	1	0	0	0	0	1	0	0	0	10881	159	6	3	819	3	OPN3	1	241767854	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	5052445	241767854	7482767	146	109235											
EXO1	9156	broad.mit.edu	37	chr1	242045292	242045292	+	Frame_Shift_Del	DEL	A	A	-													ctacgtttatctcatttctcAaaaaaagacacacctctaag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:242045291_242045291CA>C	uc021plj.1	+	11	2497	c.2183_2183CA>C	c.(2182-2184)tcafs	p.S728fs	EXO1_uc001hzh.3_Frame_Shift_Del_p.S728fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.S727fs|EXO1_uc021plk.1_Frame_Shift_Del_p.S728fs	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	728	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCTCATTTCTCAAAAAAAGAC	0.318								Editing and processing nucleases					-	242045292	A	-	242045292	7	5	198	1	0	1	0	1	0	0	0	0	5300	117	5	0	2226	0	EXO1	1	242045292	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	277438	242045292	7205329	147	109236											
OR2M3	127062	broad.mit.edu	37	chr1	248366502	248366502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatgggaaactctgtcAtggttctcctcatctacctg	7	13	6	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:248366502A>G	uc010pzg.1	+	1	133	c.133A>G	c.(133-135)ATG>GTG	p.M45V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			AAACTCTGTCATGGTTCTCCT	0.547													G	248366502	A	G	248366502	3	3	198	1	0	0	0	0	1	0	0	0	11011	217	8	3	135	3	OR2M3	1	248366502	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	6321210	248366502	884119	148	109237											
ZNF692	55657	broad.mit.edu	37	chr1	249150585	249150585	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaccctcttcctctccTggaggtgggaaggtctctgg	11	14	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:249150585T>C	uc001ifc.1	-	6	728	c.561A>G	c.(559-561)CCA>CCG	p.P187P	ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Silent_p.P187P|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Intron|ZNF692_uc010pzr.1_Silent_p.P192P	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			cttcctctcctGGAGGTGGGA	0.448													C	249150585	T	C	249150585	2	2	198	1	0	0	0	0	0	0	0	1	18094	1567	55	3		3	ZNF692	1	249150585	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	784083	249150585	100036	149	109238											
TPO	7173	broad.mit.edu	37	chr2	1497702	1497702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagcatcctgacaacatcGatgtctggctgggaggctta	11	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:1497702G>A	uc002qww.2	+	11	1988	c.1897G>A	c.(1897-1899)GAT>AAT	p.D633N	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D576N|TPO_uc002qwr.2_Missense_Mutation_p.D633N|TPO_uc002qwx.2_Missense_Mutation_p.D576N|TPO_uc010yio.1_Missense_Mutation_p.D460N|TPO_uc010yip.1_Missense_Mutation_p.D633N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	633	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	TGACAACATCGATGTCTGGCT	0.607													A	1497702	G	A	1497702	3	1	198	1	0	0	0	0	1	0	0	0	16407	1058	37	1	1935	1	TPO	2	1497702	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08		1497702	241701671	150	109239											
ASAP2	8853	broad.mit.edu	37	chr2	9531313	9531313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgctgccccctcttcgcGtgacatctaccagtacgttt	7	17	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:9531313G>A	uc002qzh.2	+	23	2846	c.2506G>A	c.(2506-2508)GTG>ATG	p.V836M	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	836	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CCCTCTTCGCGTGACATCTAC	0.572													A	9531313	G	A	9531313	3	1	198	1	0	0	0	0	1	0	0	0	1011	1145	40	1	2596	1	ASAP2	2	9531313	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	8033611	9531313	233668060	151	109240											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9558782	9558782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttagtactgatttcgctactTtgggaactgctactactgtg	9	8	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:9558782T>A	uc002qzj.2	-	2	222	c.45A>T	c.(43-45)CAA>CAT	p.Q15H	ITGB1BP1_uc002qzk.2_Missense_Mutation_p.Q15H|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Intron|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.Q15H	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	15	Ser/Thr-rich.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTCGCTACTTTGGGAACTGC	0.393													A	9558782	T	A	9558782	3	1	198	1	0	0	0	0	1	0	0	0	7891	1838	64	5	581	5	ITGB1BP1	2	9558782	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	27469	9558782	233640591	152	109241											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917819	10917820	+	Frame_Shift_Ins	INS	-	-	AG													tgctgcggggcagaccgacaINSgagagagagagagtgagggc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:10917818_10917819C>CAG	uc002ras.3	+	10	1042_1043	c.933_934C>CAG	c.(931-936)gacagafs	p.D311fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	311					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGCAGACCGACAGAGAGAGAGA	0.609													AG	10917820	-	AG	10917819	7	5	198	1	0	1	1	0	0	0	0	0	1181	180	7	0	972	0	ATP6V1C2	2	10917819	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1359037	10917819	232281554	153	109242											
NCOA1	8648	broad.mit.edu	37	chr2	24930579	24930579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaatcaaaagaccatcAgctcctacgctatcttttag	5	10	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:24930579A>G	uc002rfk.2	+	11	2498	c.2240A>G	c.(2239-2241)CAG>CGG	p.Q747R	NCOA1_uc010eye.2_Missense_Mutation_p.Q747R|NCOA1_uc002rfi.2_Missense_Mutation_p.Q596R|NCOA1_uc002rfj.2_Missense_Mutation_p.Q747R|NCOA1_uc002rfl.2_Missense_Mutation_p.Q747R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	747									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGACCATCAGCTCCTACGC	0.383			T	PAX3	alveolar rhadomyosarcoma								G	24930579	A	G	24930579	3	3	198	1	0	0	0	0	1	0	0	0	10228	188	7	3	2274	3	NCOA1	2	24930579	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	14012760	24930579	218268794	154	109243											
NCOA1	8648	broad.mit.edu	37	chr2	24975018	24975020	+	In_Frame_Del	DEL	AAC	AAC	-													ggcagcaaggagcgataggaAacaacaagtaagggggcagt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:24975017_24975019AAAC>A	uc002rfk.3	+	17	4132_4134	c.3873_3875AAAC>A	c.(3871-3876)ggaaac>ggAc	p.N1294del	NCOA1_uc010eye.3_In_Frame_Del_p.N1294del|NCOA1_uc002rfi.3_In_Frame_Del_p.N1143del|NCOA1_uc002rfj.3_In_Frame_Del_p.N1294del|NCOA1_uc002rfl.3_In_Frame_Del_p.N1294del|NCOA1_uc010eyf.3_In_Frame_Del_p.N187del	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1294									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)					GAGCGATAGGAAACAACAAGTAA	0.463			T	PAX3	alveolar rhadomyosarcoma								-	24975020	AAC	-	24975018	7	5	198	1	0	1	0	1	0	0	0	0	10228	14	1	0	3936	0	NCOA1	2	24975018	In_Frame_Del	DEL	AAC	TCGA-CG-5733-01A-11D-1600-08	44439	24975018	218224355	155	109244											
OTOF	9381	broad.mit.edu	37	chr2	26750774	26750774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgatgctgctggccacCggccaccgaaatgtctgggg	14	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:26750774C>T	uc002rhk.2	-	3	280	c.153G>A	c.(151-153)CCG>CCA	p.P51P		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	51	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGCCACCGGCCACCGAA	0.557													T	26750774	C	T	26750774	2	4	198	1	0	0	0	0	0	0	0	1	11303	639	23	1		1	OTOF	2	26750774	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1775756	26750774	216448599	156	109245											
FNDC4	64838	broad.mit.edu	37	chr2	27716887	27716887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactctctccccgaaggcCgatgctcctgacctgcactg	11	16	1	1	rs1046558		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:27716887C>T	uc002rkx.2	-	4	770	c.364G>A	c.(364-366)GGC>AGC	p.G122S	GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	122	Extracellular (Potential).|Fibronectin type-III.					integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)					CCCCGAAGGCCGATGCTCCTG	0.627													T	27716887	C	T	27716887	3	4	198	1	0	0	0	0	1	0	0	0	5971	652	23	1	356	1	FNDC4	2	27716887	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	966113	27716887	215482486	157	109246											
GCKR	2646	broad.mit.edu	37	chr2	27730607	27730607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatccttccctctctcacGgaaatcgatactgtggtctt	6	14	3	0	rs149406755	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:27730607G>A	uc002rky.2	+	14	1269	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	GCKR_uc010ezd.2_Silent_p.T399T|GCKR_uc010ylu.1_Silent_p.T211T	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	401	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			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					CCTCTCTCACGGAAATCGATA	0.547													A	27730607	G	A	27730607	2	1	198	1	0	0	0	0	0	0	0	1	6294	1103	39	1		1	GCKR	2	27730607	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	13720	27730607	215468766	158	109247											
EHD3	30845	broad.mit.edu	37	chr2	31467249	31467249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggatcatccctgggaacGccctggtggtggatcccaag	15	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:31467249G>A	uc002rnu.2	+	2	945	c.337G>A	c.(337-339)GCC>ACC	p.A113T	EHD3_uc010ymt.1_Missense_Mutation_p.A113T	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	113					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			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					CCCTGGGAACGCCCTGGTGGT	0.562													A	31467249	G	A	31467249	3	1	198	1	0	0	0	0	1	0	0	0	4979	1087	38	1	343	1	EHD3	2	31467249	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3736642	31467249	211732124	159	109248											
NLRC4	58484	broad.mit.edu	37	chr2	32466128	32466128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatagcatcttcttcattcAtctttatgttatccattatg	3	8	5	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:32466128A>G	uc002roi.2	-	5	2570	c.2324T>C	c.(2323-2325)ATG>ACG	p.M775T	NLRC4_uc002roj.1_Missense_Mutation_p.M775T|NLRC4_uc010ezt.1_Missense_Mutation_p.M110T	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	775	LRR 6.				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			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTTCATTCATCTTTATGTT	0.348													G	32466128	A	G	32466128	3	3	198	1	0	0	0	0	1	0	0	0	10469	217	8	3	770	3	NLRC4	2	32466128	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	998879	32466128	210733245	160	109249											
LOC728819	728819	broad.mit.edu	37	chr2	43903432	43903432	+	Frame_Shift_Del	DEL	A	A	-													ctcccaagcaacatacccttAaaaaatgatgtcccactagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:43903432delA	uc010fav.1	-	1	30	c.30delT	c.(28-30)TTTfs	p.F10fs	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron	NM_001101330	NP_001094800			C1GALT1-specific chaperone 1-like												0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACATACCCTTAAAAAATGATG	0.517													-	43903432	A	-	43903432	7	5	198	1	0	1	0	1	0	0	0	0	8887	359	13	0	921	0	LOC728819	2	43903432	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	11437304	43903432	199295941	161	109250											
SIX3	6496	broad.mit.edu	37	chr2	45169609	45169609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggcccccggggcgtgCgaggccatcaacaaacacga	13	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:45169609C>T	uc002run.1	+	1	573	c.366C>T	c.(364-366)TGC>TGT	p.C122C		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	122					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGGGGCGTGCGAGGCCATCA	0.682													T	45169609	C	T	45169609	2	4	198	1	0	0	0	0	0	0	0	1	14348	776	27	1		1	SIX3	2	45169609	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1266177	45169609	198029764	162	109251											
MSH6	2956	broad.mit.edu	37	chr2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C													attctgttgccggaagatacINScccccccttcttagagctta					rs63749866		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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)|p.F1088fs*5(1)|p.F1088fs*2(1)		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)			GCCGGAAGATACCCCCCCCTTC	0.436			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	48030641	-	C	48030640	7	5	198	1	0	1	1	0	0	0	0	0	9874	507	18	0	3272	0	MSH6	2	48030640	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	2861031	48030640	195168733	163	109252											
FBXO11	80204	broad.mit.edu	37	chr2	48035330	48035330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgtatcatgtgtaggcTcaccagctaatgtacaagga	9	8	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:48035330T>C	uc010fbl.2	-	23	2573	c.2459A>G	c.(2458-2460)GAG>GGG	p.E820G	FBXO11_uc002rwe.2_Missense_Mutation_p.E820G|FBXO11_uc010fbk.2_Missense_Mutation_p.E328G	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	904	UBR-type.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGTGTAGGCTCACCAGCTAA	0.398													C	48035330	T	C	48035330	3	2	198	1	0	0	0	0	1	0	0	0	5727	1551	54	3	76	3	FBXO11	2	48035330	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4690	48035330	195164043	164	109253											
NRXN1	9378	broad.mit.edu	37	chr2	50318473	50318473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttacctgcagggtagcGctcgatcactggccagctgt	12	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:50318473G>A	uc010fbp.2	-	3	1408	c.601C>T	c.(601-603)CGC>TGC	p.R201C	NRXN1_uc002rxb.3_Missense_Mutation_p.R908C|NRXN1_uc010fbq.2_Missense_Mutation_p.R1276C|NRXN1_uc002rxe.3_Missense_Mutation_p.R1236C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	201	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAGGGTAGCGCTCGATCACT	0.448													A	50318473	G	A	50318473	3	1	198	1	0	0	0	0	1	0	0	0	10665	1087	38	1	837	1	NRXN1	2	50318473	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2283143	50318473	192880900	165	109254											
CCT4	10575	broad.mit.edu	37	chr2	62099382	62099382	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggattccataccactcagTgttcgtgaatattcagttaa	7	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:62099382T>C	uc002sbo.2	-	12	1475	c.1326A>G	c.(1324-1326)ACA>ACG	p.T442T	CCT4_uc010ypp.1_Silent_p.T386T|CCT4_uc010ypq.1_Silent_p.T292T|CCT4_uc010ypr.1_Silent_p.T386T|CCT4_uc010yps.1_Silent_p.T412T	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	442					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	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)			TACCACTCAGTGTTCGTGAAT	0.423													C	62099382	T	C	62099382	2	2	198	1	0	0	0	0	0	0	0	1	2955	1683	59	3		3	CCT4	2	62099382	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	11780909	62099382	181099991	166	109255											
EHBP1	23301	broad.mit.edu	37	chr2	63169987	63169987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacatcgtggagaaatggTttatctttttgtgcaatatt	8	5	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:63169987T>C	uc002sby.2	+	12	1907	c.1425T>C	c.(1423-1425)GGT>GGC	p.G475G	EHBP1_uc010fcp.2_Silent_p.G440G|EHBP1_uc002sbz.2_Silent_p.G440G|EHBP1_uc002scb.2_Silent_p.G440G	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	475	CH.					cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGAAATGGTTTATCTTTTT	0.323									Hereditary_Prostate_Cancer				C	63169987	T	C	63169987	2	2	198	1	0	0	0	0	0	0	0	1	4975	1712	60	3		3	EHBP1	2	63169987	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1070605	63169987	180029386	167	109256											
PNO1	56902	broad.mit.edu	37	chr2	68385209	68385209	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggggatgcgggccgcatggAcacagaggaggccaggccgg	20	11	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:68385209A>T	uc002seh.2	+	1	205	c.143A>T	c.(142-144)GAC>GTC	p.D48V	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	partner of NOB1	48						nucleolus	RNA binding				0						GGCCGCATGGACACAGAGGAG	0.672													T	68385209	A	T	68385209	3	4	198	1	0	0	0	0	1	0	0	0	12161	275	10	5	145	5	PNO1	2	68385209	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	5215222	68385209	174814164	168	109257											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:71191573delC	uc002shj.2	+	12	1236	c.1149delC	c.(1147-1149)TACfs	p.Y383fs	ATP6V1B1_uc010fdv.2_Frame_Shift_Del_p.Y366fs|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	383					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			skin(1)	1						CTCAGATCTACCCCCCCATCA	0.547											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	198	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	2806364	71191573	172007800	169	109258											
SFXN5	94097	broad.mit.edu	37	chr2	73268057	73268057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagcctctctgagacGtctctgcagaagaaagaaaa	9	11	2	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:73268057G>A	uc002siq.2	-	3	306	c.175C>T	c.(175-177)CGT>TGT	p.R59C	SFXN5_uc002sio.2_Translation_Start_Site|SFXN5_uc010yrc.1_Translation_Start_Site|SFXN5_uc002sip.2_RNA|SFXN5_uc010fet.2_Missense_Mutation_p.R59C	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	59					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						TCTCTGAGACGTCTCTGCAGA	0.522													A	73268057	G	A	73268057	3	1	198	1	0	0	0	0	1	0	0	0	14198	1145	40	1	895	1	SFXN5	2	73268057	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2076484	73268057	169931316	170	109259											
SLC4A5	57835	broad.mit.edu	37	chr2	74475528	74475528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaggatgggccccgtgCtgctgagaatgatgagaggc	17	7	0	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:74475528C>T	uc002sko.1	-	13	1741	c.1739G>A	c.(1738-1740)AGC>AAC	p.S580N	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.S580N|SLC4A5_uc010ffc.1_Missense_Mutation_p.S580N|SLC4A5_uc002skp.1_Missense_Mutation_p.S516N|SLC4A5_uc002sks.1_Missense_Mutation_p.S580N	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	580	Helical; (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						GGGCCCCGTGCTGCTGAGAAT	0.587													T	74475528	C	T	74475528	3	4	198	1	0	0	0	0	1	0	0	0	14657	797	28	2	1730	2	SLC4A5	2	74475528	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1207471	74475528	168723845	171	109260											
MOGS	7841	broad.mit.edu	37	chr2	74689928	74689928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaaactctatggaaaTgggaattttcagggtcacct	8	8	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:74689928T>C	uc010ffj.2	-	4	1151	c.988A>G	c.(988-990)ATT>GTT	p.I330V	MOGS_uc010ffh.2_Missense_Mutation_p.I55V|MOGS_uc010yrt.1_Missense_Mutation_p.I211V|MOGS_uc010ffi.2_Missense_Mutation_p.I224V	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	330	Lumenal (Potential).			I -> F (in Ref. 1; CAA60683).	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				0						TCTATGGAAATGGGAATTTTC	0.562													C	74689928	T	C	74689928	3	2	198	1	0	0	0	0	1	0	0	0	9697	1464	51	3	1529	3	MOGS	2	74689928	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	214400	74689928	168509445	172	109261											
LOXL3	84695	broad.mit.edu	37	chr2	74779707	74779707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagcacgaactgcacaGcaggcacagcagcagccccc	9	19	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:74779707G>A	uc002smp.1	-	2	127	c.55C>T	c.(55-57)CTG>TTG	p.L19L	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.L19L|LOXL3_uc002smq.1_Silent_p.L19L|LOXL3_uc010ffn.1_Silent_p.L19L|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	19						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						GAACTGCACAGCAGGCACAGC	0.607													A	74779707	G	A	74779707	2	1	198	1	0	0	0	0	0	0	0	1	8901	962	34	2		2	LOXL3	2	74779707	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	89779	74779707	168419666	173	109262											
ZNF2	7549	broad.mit.edu	37	chr2	95847751	95847751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcatcagcgtgtccacaCgggagagaagccctttgaat	13	11	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:95847751C>T	uc002suf.2	+	6	1637	c.1175C>T	c.(1174-1176)ACG>ATG	p.T392M	ZNF2_uc002sug.2_Missense_Mutation_p.T350M|ZNF2_uc010yue.1_Missense_Mutation_p.T355M|ZNF2_uc010fhs.2_Missense_Mutation_p.T313M	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CGTGTCCACACGGGAGAGAAG	0.507													T	95847751	C	T	95847751	3	4	198	1	0	0	0	0	1	0	0	0	17757	536	19	1	1192	1	ZNF2	2	95847751	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	21068044	95847751	147351622	174	109263											
CNNM3	26505	broad.mit.edu	37	chr2	97498336	97498336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggaaggcagccctgggCggaacccaggcgtttaacgg	17	11	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:97498336C>T	uc002swy.2	+	8	2131	c.2107C>T	c.(2107-2109)CGG>TGG	p.R703W	CNNM3_uc002swz.2_Missense_Mutation_p.R655W	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	703					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						CAGCCCTGGGCGGAACCCAGG	0.592													T	97498336	C	T	97498336	3	4	198	1	0	0	0	0	1	0	0	0	3614	759	27	1	2137	1	CNNM3	2	97498336	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1650585	97498336	145701037	175	109264											
VWA3B	200403	broad.mit.edu	37	chr2	98844745	98844745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagacctttattctgaGtccttgatcatggactggtg	10	8	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:98844745G>T	uc002syo.2	+	15	2364	c.2100G>T	c.(2098-2100)GAG>GAT	p.E700D	VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.E219D|VWA3B_uc002sym.2_Missense_Mutation_p.E700D|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.E357D|VWA3B_uc002syp.1_Missense_Mutation_p.E92D|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Missense_Mutation_p.E17D	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	700										ovary(3)|large_intestine(2)|skin(1)	6						TTTATTCTGAGTCCTTGATCA	0.478													T	98844745	G	T	98844745	3	4	198	1	0	0	0	0	1	0	0	0	17238	1020	36	5	2154	5	VWA3B	2	98844745	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1346409	98844745	144354628	176	109265											
MGAT4A	11320	broad.mit.edu	37	chr2	99261956	99261956	+	Frame_Shift_Del	DEL	T	T	-													aagaaagttgaagtgcaaaaTtttttatggtattaaaataa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:99261956delT	uc002sze.2	-	9	1138	c.824delA	c.(823-825)AATfs	p.N275fs	C2orf64_uc002sza.2_RNA|MGAT4A_uc010yvm.1_Frame_Shift_Del_p.N147fs|MGAT4A_uc010fil.2_Frame_Shift_Del_p.N29fs	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	275	Lumenal (Potential).				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			skin(1)	1						AAGTGCAAAATTTTTTATGGT	0.294													-	99261956	T	-	99261956	7	5	198	1	0	1	0	1	0	0	0	0	9545	1493	52	0	894	0	MGAT4A	2	99261956	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	417211	99261956	143937417	177	109266											
IL18R1	8809	broad.mit.edu	37	chr2	102998141	102998141	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgttgcagtggaattAggtatatttcaatatacata	7	5	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:102998141A>G	uc002tbw.3	+	6	837	c.687A>G	c.(685-687)TTA>TTG	p.L229L	IL18R1_uc010ywc.1_Silent_p.L229L|IL18R1_uc010ywd.1_Silent_p.L74L|IL18R1_uc010fiy.2_Silent_p.L229L	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	229	Ig-like C2-type 3.|Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						CAGTGGAATTAGGTATATTTC	0.338													G	102998141	A	G	102998141	2	3	198	1	0	0	0	0	0	0	0	1	7647	434	15	3		3	IL18R1	2	102998141	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3736185	102998141	140201232	178	109267											
RANBP2	5903	broad.mit.edu	37	chr2	109367742	109367742	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctattcgagcacataatggTagtcttcagcaccttacttg	8	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:109367742T>C	uc002tem.3	+	10	1422	c.1296T>C	c.(1294-1296)GGT>GGC	p.G432G		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	432					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						CACATAATGGTAGTCTTCAGC	0.383													C	109367742	T	C	109367742	2	2	198	1	0	0	0	0	0	0	0	1	13028	1625	57	3		3	RANBP2	2	109367742	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	6369601	109367742	133831631	179	109268											
IL1B	3553	broad.mit.edu	37	chr2	113591101	113591101	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtggtggtcggagattcGtagctggatgccgccatcca	15	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:113591101G>A	uc002tii.1	-	4	238	c.151C>T	c.(151-153)CGA>TGA	p.R51*	IL1B_uc002tih.1_Nonsense_Mutation_p.R20*	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	51					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			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TCGGAGATTCGTAGCTGGATG	0.622													A	113591101	G	A	113591101	4	1	198	1	0	0	0	0	0	1	0	0	7651	1153	40	1	674	1	IL1B	2	113591101	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4223359	113591101	129608272	180	109269											
MYO7B	4648	broad.mit.edu	37	chr2	128322852	128322852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgtcctcagtcccatGcaccccaactcagtccaggg	9	15	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:128322852G>A	uc002top.2	+	4	230	c.177G>A	c.(175-177)ATG>ATA	p.M59I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	59						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCAGTCCCATGCACCCCAACT	0.617													A	128322852	G	A	128322852	3	1	198	1	0	0	0	0	1	0	0	0	10083	1319	46	2	187	2	MYO7B	2	128322852	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	14731751	128322852	114876521	181	109270											
TUBA3D	113457	broad.mit.edu	37	chr2	132240260	132240260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaccataagttcgatctcAtgtatgccaagcgggccttt	10	10	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:132240260A>G	uc002tsu.3	+	5	1299	c.1192A>G	c.(1192-1194)ATG>GTG	p.M398V		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	398					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTTCGATCTCATGTATGCCAA	0.632													G	132240260	A	G	132240260	3	3	198	1	0	0	0	0	1	0	0	0	16744	217	8	3	1210	3	TUBA3D	2	132240260	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3917408	132240260	110959113	182	109271											
CCDC74A	90557	broad.mit.edu	37	chr2	132285712	132285712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctggacctggagaaaagcCtgcagttcctgcagcagcag	12	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:132285712C>A	uc002tta.2	+	1	221	c.169C>A	c.(169-171)CTG>ATG	p.L57M	CCDC74A_uc010fnb.1_Missense_Mutation_p.L57M|CCDC74A_uc002ttb.2_Missense_Mutation_p.L57M	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	57	Potential.									skin(1)	1						GGAGAAAAGCCTGCAGTTCCT	0.657													A	132285712	C	A	132285712	3	1	198	1	0	0	0	0	1	0	0	0	2847	680	24	5	171	5	CCDC74A	2	132285712	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	45452	132285712	110913661	183	109272											
LYPD1	116372	broad.mit.edu	37	chr2	133403742	133403742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttacaaagaggggtgttgCagcagctgatgcaaactgag	14	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:133403742C>T	uc002ttn.2	-	3	1278	c.302G>A	c.(301-303)TGC>TAC	p.C101Y	GPR39_uc002ttl.2_3'UTR|LYPD1_uc002ttm.3_Missense_Mutation_p.C117Y|LYPD1_uc002tto.2_Missense_Mutation_p.C49Y	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1 isoform a	101	UPAR/Ly6.					anchored to membrane|plasma membrane					0						AGGGGTGTTGCAGCAGCTGAT	0.582													T	133403742	C	T	133403742	3	4	198	1	0	0	0	0	1	0	0	0	9109	710	25	2	127	2	LYPD1	2	133403742	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1118030	133403742	109795631	184	109273											
KIF5C	3800	broad.mit.edu	37	chr2	149864536	149864536	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaagcagaaaatttcCttcttggagaataacctgga	9	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:149864536C>A	uc010zbu.1	+	23	2873	c.2505C>A	c.(2503-2505)TCC>TCA	p.S835S	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.S117S	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	835					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAAAATTTCCTTCTTGGAGA	0.547													A	149864536	C	A	149864536	2	1	198	1	0	0	0	0	0	0	0	1	8307	668	24	5		5	KIF5C	2	149864536	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	16460794	149864536	93334837	185	109274											
NMI	9111	broad.mit.edu	37	chr2	152132079	152132079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacctctccgcctccatttcGggactttgaaaagctcagct	7	15	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:152132079G>C	uc002txi.2	-	6	883	c.553C>G	c.(553-555)CGA>GGA	p.R185G	NMI_uc010zbx.1_3'UTR	NM_004688	NP_004679	Q13287	NMI_HUMAN	N-myc and STAT interactor	185					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity				0				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTCCATTTCGGGACTTTGAA	0.453													C	152132079	G	C	152132079	3	2	198	1	0	0	0	0	1	0	0	0	10497	1124	39	5	382	5	NMI	2	152132079	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2267543	152132079	91067294	186	109275											
NEB	4703	broad.mit.edu	37	chr2	152470851	152470851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctgatcaggcaggcagGtccattcatgcaggggatgc	13	10	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:152470851G>A	uc010fnx.2	-	73	11002	c.10811C>T	c.(10810-10812)ACC>ATC	p.T3604I		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3604	Nebulin 99.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCAGGCAGGTCCATTCATG	0.498													A	152470851	G	A	152470851	3	1	198	1	0	0	0	0	1	0	0	0	10302	1261	44	4	14570	4	NEB	2	152470851	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	338772	152470851	90728522	187	109276											
NEB	4703	broad.mit.edu	37	chr2	152520210	152520210	+	Frame_Shift_Del	DEL	G	G	-													ccacactgagcatgtccaccGgggtgtggaaggaggtcttg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:152520209_152520209CG>C	uc021vrb.1	-	42	5645	c.5616_5616CG>G	c.(5614-5616)ccgfs	p.P1872fs	NEB_uc002txu.3_Frame_Shift_Del_p.P1872fs|NEB_uc021vrc.1_Frame_Shift_Del_p.P1872fs|NEB_uc010fnx.3_Frame_Shift_Del_p.P1872fs|NEB_uc021vrd.1_Frame_Shift_Del_p.P1872fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1872					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		GCATGTCCACCGGGGTGTGGA	0.522													-	152520210	G	-	152520210	7	5	198	1	0	1	0	1	0	0	0	0	10302	1116	39	0	20623	0	NEB	2	152520210	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	49359	152520210	90679163	188	109277											
NR4A2	4929	broad.mit.edu	37	chr2	157185013	157185013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtttttatttgctaaAcacacgtattttgcattttt	7	6	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:157185013A>G	uc002tyz.3	-	4	1319	c.897T>C	c.(895-897)TGT>TGC	p.C299C	NR4A2_uc002tyx.3_Silent_p.C236C|NR4A2_uc010zcf.1_Silent_p.C299C|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	299	NR C4-type.|Nuclear receptor.				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			ovary(3)	3						TATTTGCTAAACACACGTATT	0.428													G	157185013	A	G	157185013	2	3	198	1	0	0	0	0	0	0	0	1	10633	41	2	3		3	NR4A2	2	157185013	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4664803	157185013	86014360	189	109278											
ERMN	57471	broad.mit.edu	37	chr2	158178062	158178063	+	In_Frame_Ins	INS	-	-	ATC													cttcatcattattgcaattaINStcatcatcatcatcatcaat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:158178061_158178062T>TATC	uc002tzi.3	-	3	770_771	c.615_616A>GATA	c.(613-618)gataat>gaGATAat	p.205_206DN>EI	ERMN_uc010zcj.2_In_Frame_Ins_p.86_87DN>EI|ERMN_uc002tzh.3_In_Frame_Ins_p.192_193DN>EI|ERMN_uc010zck.2_In_Frame_Ins_p.172_173DN>EI	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	192						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						ttattgcaattatcatcatcat	0.371													ATC	158178063	-	ATC	158178062	7	5	198	1	0	1	1	0	0	0	0	0	5235	446	16	0	282	0	ERMN	2	158178062	In_Frame_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	993049	158178062	85021311	190	109279											
LY75	4065	broad.mit.edu	37	chr2	160697448	160697448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgaagcattctgcaacGtctgtctgcttttaacttct	6	10	5	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:160697448G>A	uc002ubc.3	-	25	3368	c.3299C>T	c.(3298-3300)ACG>ATG	p.T1100M	LY75_uc002ubb.3_Missense_Mutation_p.T1100M|LY75_uc010fos.2_Missense_Mutation_p.T1100M	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1100	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		ATTCTGCAACGTCTGTCTGCT	0.378													A	160697448	G	A	160697448	3	1	198	1	0	0	0	0	1	0	0	0	9099	1145	40	1	1913	1	LY75	2	160697448	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2519386	160697448	82501925	191	109280											
COBLL1	22837	broad.mit.edu	37	chr2	165551508	165551508	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgttctcaggttaggcttCggtttaaggtttggcagtgg	14	6	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:165551508C>T	uc010zcw.1	-	15	2833	c.2709G>A	c.(2707-2709)CCG>CCA	p.P903P	COBLL1_uc002ucp.2_Silent_p.P836P|COBLL1_uc002ucq.2_Silent_p.P798P|COBLL1_uc010zcx.1_Silent_p.P844P|COBLL1_uc002ucn.2_Silent_p.P264P|COBLL1_uc002uco.2_Silent_p.P567P	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	874										ovary(2)|pancreas(1)	3						GGTTAGGCTTCGGTTTAAGGT	0.463													T	165551508	C	T	165551508	2	4	198	1	0	0	0	0	0	0	0	1	3654	871	31	1		1	COBLL1	2	165551508	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4854060	165551508	77647865	192	109281											
SCN3A	6328	broad.mit.edu	37	chr2	165987821	165987821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctccattaaactgaggCtgacaataattccatcaaag	6	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:165987821C>T	uc002ucx.2	-	16	2990	c.2498G>A	c.(2497-2499)AGC>AAC	p.S833N	SCN3A_uc002ucy.2_Missense_Mutation_p.S784N|SCN3A_uc002ucz.2_Missense_Mutation_p.S784N|SCN3A_uc002uda.1_Missense_Mutation_p.S653N|SCN3A_uc002udb.1_Missense_Mutation_p.S653N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	833	Helical; Name=S3 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TAAACTGAGGCTGACAATAAT	0.398													T	165987821	C	T	165987821	3	4	198	1	0	0	0	0	1	0	0	0	13918	797	28	2	3556	2	SCN3A	2	165987821	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	436313	165987821	77211552	193	109282											
LRP2	4036	broad.mit.edu	37	chr2	170103223	170103223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagctacttactaagtgtgCcacatagttgctcatcactg	7	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:170103223C>T	uc002ues.2	-	21	3395	c.3182G>A	c.(3181-3183)GGC>GAC	p.G1061D	LRP2_uc010zdf.1_Missense_Mutation_p.G924D	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1061	LDL-receptor class A 8.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	ACTAAGTGTGCCACATAGTTG	0.388													T	170103223	C	T	170103223	3	4	198	1	0	0	0	0	1	0	0	0	8956	739	26	2	11021	2	LRP2	2	170103223	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4115402	170103223	73096150	194	109283											
OLA1	29789	broad.mit.edu	37	chr2	174987938	174987938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttctaatgtagtcttttTcagaaagattaaccaagtag	6	6	4	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:174987938T>C	uc002uih.2	-	7	884	c.698A>G	c.(697-699)GAA>GGA	p.E233G	OLA1_uc002uii.2_Missense_Mutation_p.E75G|OLA1_uc010fqq.2_Missense_Mutation_p.E233G|OLA1_uc002uij.2_Missense_Mutation_p.E75G|OLA1_uc002uik.2_Missense_Mutation_p.E203G|OLA1_uc010fqr.2_Missense_Mutation_p.E233G	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1 isoform 1	233				LSE->KSD: Retention of ATP-binding specificity.	ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			ovary(1)|breast(1)	2						GTAGTCTTTTTCAGAAAGATT	0.343													C	174987938	T	C	174987938	3	2	198	1	0	0	0	0	1	0	0	0	10850	1783	62	3	512	3	OLA1	2	174987938	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4884715	174987938	68211435	195	109284											
EVX2	344191	broad.mit.edu	37	chr2	176948225	176948225	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggctctcggcggcggAggagatttcggaggagacgg	19	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:176948225A>C	uc010zeu.1	-	1	466	c.280T>G	c.(280-282)TCC>GCC	p.S94A		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCGGCGGCGGAGGAGATTTCG	0.627													C	176948225	A	C	176948225	3	2	198	1	0	0	0	0	1	0	0	0	5295	304	11	5	1160	5	EVX2	2	176948225	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1960287	176948225	66251148	196	109285											
PDE11A	50940	broad.mit.edu	37	chr2	178592398	178592398	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacttacggttaacatcgcGaacatcagctgacacacgtt	7	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:178592398G>A	uc002ulq.2	-	12	2349	c.2031C>T	c.(2029-2031)TTC>TTT	p.F677F	PDE11A_uc002ulp.2_Silent_p.F233F|PDE11A_uc002ulr.2_Silent_p.F427F|PDE11A_uc002uls.1_Silent_p.F319F|PDE11A_uc002ult.1_Silent_p.F427F|PDE11A_uc002ulu.1_Silent_p.F319F	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	677	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTAACATCGCGAACATCAGCT	0.438									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				A	178592398	G	A	178592398	2	1	198	1	0	0	0	0	0	0	0	1	11631	1049	37	1		1	PDE11A	2	178592398	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1644173	178592398	64606975	197	109286											
TTN	7273	broad.mit.edu	37	chr2	179505993	179505993	+	Frame_Shift_Del	DEL	T	T	-													ggttttttaactttttctagTtttttaggttctactttagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179505993delT	uc010zfg.1	-	169	33128	c.32904delA	c.(32902-32904)AAAfs	p.K10968fs	TTN_uc010zfh.1_Frame_Shift_Del_p.K4663fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K4596fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K4471fs|TTN_uc010fre.1_Frame_Shift_Del_p.K846fs|TTN_uc002umw.1_Intron|TTN_uc002umx.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11895							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTTCTAGTTTTTTAGGTT	0.284													-	179505993	T	-	179505993	7	5	198	1	0	1	0	1	0	0	0	0	16732	1722	60	0	67657	0	TTN	2	179505993	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	913595	179505993	63693380	198	109287											
TTN	7273	broad.mit.edu	37	chr2	179583963	179583963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacacgtgtatatgcctgTgtcggagggctccaacaagc	11	12	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179583963T>C	uc010zfg.1	-	80	20646	c.20422A>G	c.(20422-20424)ACA>GCA	p.T6808A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3469A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7735							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATATGCCTGTGTCGGAGGGC	0.498													C	179583963	T	C	179583963	3	2	198	1	0	0	0	0	1	0	0	0	16732	1696	59	3	80495	3	TTN	2	179583963	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	77970	179583963	63615410	199	109288											
TTN	7273	broad.mit.edu	37	chr2	179594857	179594857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgctggttgctgtgccAacatcattgcttagttggca	11	9	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179594857A>G	uc010zfg.1	-	59	14762	c.14538T>C	c.(14536-14538)GTT>GTC	p.V4846V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V1507V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5773							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTGTGCCAACATCATTGC	0.493													G	179594857	A	G	179594857	2	3	198	1	0	0	0	0	0	0	0	1	16732	117	5	3		3	TTN	2	179594857	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	10894	179594857	63604516	200	109289											
TTN	7273	broad.mit.edu	37	chr2	179612275	179612275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcctgtttctggttgtagTattcatacacagtgttgaaa	8	6	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179612275T>C	uc002unb.2	-	46	15076	c.14852A>G	c.(14851-14853)TAC>TGC	p.Y4951C	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTTGTAGTATTCATACAC	0.423													C	179612275	T	C	179612275	3	2	198	1	0	0	0	0	1	0	0	0	16732	1638	57	3	95445	3	TTN	2	179612275	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	17418	179612275	63587098	201	109290											
TTN	7273	broad.mit.edu	37	chr2	179638249	179638249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcagcttgtaaggtccttCgtctgaagcatgagttcggt	11	8	2	2	rs116049561	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179638249C>T	uc010zfg.1	-	32	7758	c.7534G>A	c.(7534-7536)GAA>AAA	p.E2512K	TTN_uc010zfh.1_Missense_Mutation_p.E2466K|TTN_uc010zfi.1_Missense_Mutation_p.E2466K|TTN_uc010zfj.1_Missense_Mutation_p.E2466K|TTN_uc002unb.2_Missense_Mutation_p.E2512K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2512							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGGTCCTTCGTCTGAAGCA	0.383													T	179638249	C	T	179638249	3	4	198	1	0	0	0	0	1	0	0	0	16732	893	31	1	103778	1	TTN	2	179638249	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	25974	179638249	63561124	202	109291											
SESTD1	91404	broad.mit.edu	37	chr2	179989230	179989230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatcttcctcatcgccaGcattcaagagtgctgcaatt	7	12	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179989230G>A	uc002uni.3	-	11	1178	c.1028C>T	c.(1027-1029)GCT>GTT	p.A343V	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	343	Spectrin 1.				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCATCGCCAGCATTCAAGAG	0.403													A	179989230	G	A	179989230	3	1	198	1	0	0	0	0	1	0	0	0	14127	971	34	2	1094	2	SESTD1	2	179989230	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	350981	179989230	63210143	203	109292											
NEUROD1	4760	broad.mit.edu	37	chr2	182543334	182543334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcttctttttggggCcgcgtctcttgggcttttga	10	10	5	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:182543334C>T	uc002uof.2	-	2	490	c.254G>A	c.(253-255)GGC>GAC	p.G85D	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	85					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTTTTGGGGCCGCGTCTCTT	0.398													T	182543334	C	T	182543334	3	4	198	1	0	0	0	0	1	0	0	0	10348	739	26	2	820	2	NEUROD1	2	182543334	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2554104	182543334	60656039	204	109293											
MFSD6	54842	broad.mit.edu	37	chr2	191302045	191302045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccaccacaagccactcGcaggccttcaacttttggga	7	16	1	0	rs138768363		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:191302045G>A	uc002urz.2	+	3	1614	c.1290G>A	c.(1288-1290)TCG>TCA	p.S430S		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	430					transmembrane transport	integral to membrane				ovary(2)	2						CAAGCCACTCGCAGGCCTTCA	0.502													A	191302045	G	A	191302045	2	1	198	1	0	0	0	0	0	0	0	1	9535	1074	38	1		1	MFSD6	2	191302045	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	8758711	191302045	51897328	205	109294											
MYO1B	4430	broad.mit.edu	37	chr2	192265123	192265123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaggctcgaaaaattctgCgggaactgaagcatcaaaag	10	7	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:192265123C>T	uc010fsg.2	+	22	2566	c.2311C>T	c.(2311-2313)CGG>TGG	p.R771W	MYO1B_uc002usq.2_Missense_Mutation_p.R771W|MYO1B_uc002usr.2_Missense_Mutation_p.R771W|MYO1B_uc002usu.2_Missense_Mutation_p.R45W|MYO1B_uc002usv.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	771	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAAATTCTGCGGGAACTGAA	0.458													T	192265123	C	T	192265123	3	4	198	1	0	0	0	0	1	0	0	0	10069	759	27	1	2393	1	MYO1B	2	192265123	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	963078	192265123	50934250	206	109295											
DNAH7	56171	broad.mit.edu	37	chr2	196723270	196723270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgccaggtcagcatcGcactcatctttgatggcttt	9	13	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:196723270G>A	uc002utj.3	-	43	8096	c.7995C>T	c.(7993-7995)TGC>TGT	p.C2665C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2665	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GGTCAGCATCGCACTCATCTT	0.453													A	196723270	G	A	196723270	2	1	198	1	0	0	0	0	0	0	0	1	4606	1079	38	1		1	DNAH7	2	196723270	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4458147	196723270	46476103	207	109296											
DNAH7	56171	broad.mit.edu	37	chr2	196729215	196729215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgcatctcaccttcCgcacatttccttaagatcac	3	17	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:196729215C>T	uc002utj.3	-	41	7265	c.7164G>A	c.(7162-7164)GCG>GCA	p.A2388A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2388	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCTCACCTTCCGCACATTTCC	0.393													T	196729215	C	T	196729215	2	4	198	1	0	0	0	0	0	0	0	1	4606	639	23	1		1	DNAH7	2	196729215	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5945	196729215	46470158	208	109297											
HECW2	57520	broad.mit.edu	37	chr2	197183522	197183522	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgcacacggattcctGcgacccttcggcagggccac	12	15	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:197183522G>A	uc002utm.1	-	9	2275	c.2092C>T	c.(2092-2094)CAG>TAG	p.Q698*	HECW2_uc002utl.1_Nonsense_Mutation_p.Q342*	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	698					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						ACGGATTCCTGCGACCCTTCG	0.612													A	197183522	G	A	197183522	4	1	198	1	0	0	0	0	0	1	0	0	7043	1328	46	2	2710	2	HECW2	2	197183522	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	454307	197183522	46015851	209	109298											
HECW2	57520	broad.mit.edu	37	chr2	197183576	197183576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgcacaggctccgtcttCctcctcctgagaagaaaagg	10	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:197183576C>T	uc002utm.1	-	9	2221	c.2038G>A	c.(2038-2040)GAA>AAA	p.E680K	HECW2_uc002utl.1_Missense_Mutation_p.E324K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	680					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GCTCCGTCTTCCTCCTCCTGA	0.597													T	197183576	C	T	197183576	3	4	198	1	0	0	0	0	1	0	0	0	7043	864	30	4	2764	4	HECW2	2	197183576	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	54	197183576	46015797	210	109299											
GTF3C3	9330	broad.mit.edu	37	chr2	197650315	197650315	+	Splice_Site	DEL	A	A	-													ttggcttcatagtaactcctAaaaaaaagtggcaaaatgga					rs35643383		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:197650314_197650314TA>T	uc002uts.3	-	7	1051	c.894_splice	c.e7-1	p.K298_splice	GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	298						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						TAGTAACTCCTAAAAAAAAGT	0.323													-	197650315	A	-	197650315	8	5	198	1	0	1	0	1	0	0	1	0	6874	377	13	0		0	GTF3C3	2	197650315	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	466739	197650315	45549058	211	109300											
COQ10B	80219	broad.mit.edu	37	chr2	198334842	198334842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatttggagactatttggCgttttagcccaggtcttcct	9	9	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:198334842C>T	uc002uuh.1	+	4	550	c.496C>T	c.(496-498)CGT>TGT	p.R166C	COQ10B_uc010fsl.1_Missense_Mutation_p.R138C	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B precursor	166						mitochondrial inner membrane					0			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GACTATTTGGCGTTTTAGCCC	0.378													T	198334842	C	T	198334842	3	4	198	1	0	0	0	0	1	0	0	0	3744	768	27	1	510	1	COQ10B	2	198334842	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	684527	198334842	44864531	212	109301											
BOLL	66037	broad.mit.edu	37	chr2	198621225	198621225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcaatttccactggtTgataaataacctcagaaggt	8	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:198621225T>C	uc002uus.2	-	9	966	c.656A>G	c.(655-657)CAA>CGA	p.Q219R	uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.Q225R|BOLL_uc002uut.2_Missense_Mutation_p.Q231R|BOLL_uc010zha.1_Missense_Mutation_p.Q110R|BOLL_uc002uuu.1_Missense_Mutation_p.Q247R	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	219					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						TTCCACTGGTTGATAAATAAC	0.368													C	198621225	T	C	198621225	3	2	198	1	0	0	0	0	1	0	0	0	1487	1812	63	3	207	3	BOLL	2	198621225	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	286383	198621225	44578148	213	109302											
BOLL	66037	broad.mit.edu	37	chr2	198622118	198622118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctggtaaatactgtgTggtggcctaaaattaaataa	9	6	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:198622118T>C	uc002uus.2	-	8	869	c.559A>G	c.(559-561)ACA>GCA	p.T187A	uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.T193A|BOLL_uc002uut.2_Missense_Mutation_p.T199A|BOLL_uc010zha.1_Missense_Mutation_p.T78A|BOLL_uc002uuu.1_Missense_Mutation_p.T215A	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	187	DAZ-like.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						AAATACTGTGTGGTGGCCTAA	0.249													C	198622118	T	C	198622118	3	2	198	1	0	0	0	0	1	0	0	0	1487	1696	59	3	308	3	BOLL	2	198622118	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	893	198622118	44577255	214	109303											
C2orf69	205327	broad.mit.edu	37	chr2	200789807	200789807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccatgaaattatgactcGtcatcctgagaattatcaat	5	8	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:200789807G>A	uc010zhb.1	+	2	539	c.356G>A	c.(355-357)CGT>CAT	p.R119H		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	119						extracellular region				central_nervous_system(1)	1						ATTATGACTCGTCATCCTGAG	0.308													A	200789807	G	A	200789807	3	1	198	1	0	0	0	0	1	0	0	0	2188	1145	40	1	362	1	C2orf69	2	200789807	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2167689	200789807	42409566	215	109304											
SGOL2	151246	broad.mit.edu	37	chr2	201434523	201434523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatcaactcaggataattCggaagtgttatttcttaaag	7	5	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:201434523C>T	uc002uvw.2	+	6	724	c.611C>T	c.(610-612)TCG>TTG	p.S204L	SGOL2_uc002uvv.3_Missense_Mutation_p.S204L|SGOL2_uc010zhd.1_Missense_Mutation_p.S204L|SGOL2_uc010zhe.1_Missense_Mutation_p.S204L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	204					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						CAGGATAATTCGGAAGTGTTA	0.318													T	201434523	C	T	201434523	3	4	198	1	0	0	0	0	1	0	0	0	14217	893	31	1	629	1	SGOL2	2	201434523	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	644716	201434523	41764850	216	109305											
CLK1	1195	broad.mit.edu	37	chr2	201722492	201722492	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttctgatatgatccagtcGaaatggtagaaaaccatttt	7	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:201722492G>A	uc002uwe.2	-	7	962	c.781C>T	c.(781-783)CGA>TGA	p.R261*	CLK1_uc002uwd.2_Nonsense_Mutation_p.R84*|CLK1_uc010zhi.1_Nonsense_Mutation_p.R303*|CLK1_uc002uwf.2_Nonsense_Mutation_p.R35*|CLK1_uc002uwg.2_Nonsense_Mutation_p.R110*|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	261	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TGATCCAGTCGAAATGGTAGA	0.303													A	201722492	G	A	201722492	4	1	198	1	0	0	0	0	0	1	0	0	3536	1066	37	1	701	1	CLK1	2	201722492	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	287969	201722492	41476881	217	109306											
PARD3B	117583	broad.mit.edu	37	chr2	205986445	205986445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttggtaataatgatggcGttttgaaaaccaaagtgccg	10	5	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:205986445G>A	uc002var.1	+	8	1144	c.937G>A	c.(937-939)GTT>ATT	p.V313I	PARD3B_uc010fub.1_Missense_Mutation_p.V313I|PARD3B_uc002vao.1_Missense_Mutation_p.V313I|PARD3B_uc002vap.1_Missense_Mutation_p.V313I|PARD3B_uc002vaq.1_Missense_Mutation_p.V313I	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	313					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TAATGATGGCGTTTTGAAAAC	0.448													A	205986445	G	A	205986445	3	1	198	1	0	0	0	0	1	0	0	0	11444	1145	40	1	967	1	PARD3B	2	205986445	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4263953	205986445	37212928	218	109307											
NDUFS1	4719	broad.mit.edu	37	chr2	207006783	207006783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaagaagataattggaacGcaaatctgtgctagaaatac	8	5	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:207006783G>A	uc002vbe.2	-	12	1271	c.1144C>T	c.(1144-1146)CGT>TGT	p.R382C	NDUFS1_uc010ziq.1_Missense_Mutation_p.R396C|NDUFS1_uc010zir.1_Missense_Mutation_p.R346C|NDUFS1_uc010zis.1_Missense_Mutation_p.R325C|NDUFS1_uc010zit.1_Missense_Mutation_p.R271C|NDUFS1_uc010ziu.1_Missense_Mutation_p.R266C	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	382					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	TAATTGGAACGCAAATCTGTG	0.343													A	207006783	G	A	207006783	3	1	198	1	0	0	0	0	1	0	0	0	10291	1087	38	1	1071	1	NDUFS1	2	207006783	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1020338	207006783	36192590	219	109308											
CREB1	1385	broad.mit.edu	37	chr2	208420450	208420450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgacagttcaagcccagCcacagattgccacattagcc	7	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:208420450C>T	uc002vcc.2	+	2	342	c.91C>T	c.(91-93)CCA>TCA	p.P31S	CREB1_uc010ziz.1_Missense_Mutation_p.P29S|CREB1_uc002vcd.2_Missense_Mutation_p.P31S	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	31					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|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 transcription from RNA polymerase II promoter|protein phosphorylation|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		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	TCAAGCCCAGCCACAGATTGC	0.428			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								T	208420450	C	T	208420450	3	4	198	1	0	0	0	0	1	0	0	0	3854	739	26	2	93	2	CREB1	2	208420450	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1413667	208420450	34778923	220	109309											
FN1	2335	broad.mit.edu	37	chr2	216236885	216236885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatgggggtggccgttgtgGgcggtgtggtccgcctaaaa	18	7	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:216236885G>T	uc002vfa.2	-	40	6727	c.6461C>A	c.(6460-6462)CCC>CAC	p.P2154H	FN1_uc002vfb.2_Missense_Mutation_p.P1973H|FN1_uc002vfc.2_Missense_Mutation_p.P1948H|FN1_uc002vfd.2_Missense_Mutation_p.P2129H|FN1_uc002vfe.2_Missense_Mutation_p.P2063H|FN1_uc002vff.2_Missense_Mutation_p.P2038H|FN1_uc002vfg.2_Missense_Mutation_p.P1973H|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.P2154H|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Missense_Mutation_p.P348H|FN1_uc010zjp.1_Missense_Mutation_p.P691H|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.P245H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2063	Connecting strand 3 (CS-3) (V region).				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	GGCCGTTGTGGGCGGTGTGGT	0.512													T	216236885	G	T	216236885	3	4	198	1	0	0	0	0	1	0	0	0	5962	1232	43	5	1000	5	FN1	2	216236885	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7816435	216236885	26962488	221	109310											
TNS1	7145	broad.mit.edu	37	chr2	218762658	218762658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaccaggtccagctcacAgctgtcctccatggtccggc	10	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:218762658A>G	uc002vgt.2	-	6	429	c.31T>C	c.(31-33)TGT>CGT	p.C11R	TNS1_uc002vgr.2_Missense_Mutation_p.C11R|TNS1_uc002vgs.2_Missense_Mutation_p.C11R|TNS1_uc010zjv.1_Missense_Mutation_p.C11R|TNS1_uc010fvj.1_Missense_Mutation_p.C79R|TNS1_uc010fvk.1_Missense_Mutation_p.C136R|TNS1_uc002vgu.3_Missense_Mutation_p.C42R|TNS1_uc002vgv.1_RNA	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	11	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		TCCAGCTCACAGCTGTCCTCC	0.587													G	218762658	A	G	218762658	3	3	198	1	0	0	0	0	1	0	0	0	16340	188	7	3	5288	3	TNS1	2	218762658	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2525773	218762658	24436715	222	109311											
ABCB6	10058	broad.mit.edu	37	chr2	220078361	220078361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtacagctggataatgtAggtgccaaagagcacatagt	11	7	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220078361A>G	uc002vkc.1	-	10	1883	c.1606T>C	c.(1606-1608)TAC>CAC	p.Y536H	ABCB6_uc010fwe.1_Missense_Mutation_p.Y490H	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	536	Helical; (Potential).|ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		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)		TGGATAATGTAGGTGCCAAAG	0.547													G	220078361	A	G	220078361	3	3	198	1	0	0	0	0	1	0	0	0	45	420	15	3	962	3	ABCB6	2	220078361	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1315703	220078361	23121012	223	109312											
SPEG	10290	broad.mit.edu	37	chr2	220348655	220348655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccccgtggccaggcttgGggcccgtaggctacaggagt	16	12	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220348655G>T	uc010fwg.2	+	30	6470	c.6470G>T	c.(6469-6471)GGG>GTG	p.G2157V		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2157					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		GCCAGGCTTGGGGCCCGTAGG	0.552													T	220348655	G	T	220348655	3	4	198	1	0	0	0	0	1	0	0	0	15035	1232	43	5	6600	5	SPEG	2	220348655	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	270294	220348655	22850718	224	109313											
SPEG	10290	broad.mit.edu	37	chr2	220352920	220352920	+	Frame_Shift_Del	DEL	C	C	-													tctgcttttcctccagacttCcccccagtcttccacatcaa					rs35286120		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220352919_220352919TC>T	uc010fwg.3	+	31	7745	c.7745_7745TC>T	c.(7744-7746)ttcfs	p.F2582fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2582					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)		CCTCCAGACTTCCCCCCAGTC	0.612													-	220352920	C	-	220352920	7	5	198	1	0	1	0	1	0	0	0	0	15035	854	30	0	7884	0	SPEG	2	220352920	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	4265	220352920	22846453	225	109314											
TMEM198	130612	broad.mit.edu	37	chr2	220414512	220414512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcctcacccacagatgCggactatgagtatgggtccc	11	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220414512C>T	uc002vme.2	+	6	1604	c.1019C>T	c.(1018-1020)GCG>GTG	p.A340V	TMEM198_uc002vmf.2_Missense_Mutation_p.A340V|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	340						integral to membrane				ovary(1)	1		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)		CCCACAGATGCGGACTATGAG	0.592													T	220414512	C	T	220414512	3	4	198	1	0	0	0	0	1	0	0	0	16116	768	27	1	1033	1	TMEM198	2	220414512	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	61592	220414512	22784861	226	109315											
STK11IP	114790	broad.mit.edu	37	chr2	220466796	220466796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgcagcaggagcctccaGgcattagaggtaaggagagt	14	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220466796G>T	uc002vml.2	+	5	505	c.462G>T	c.(460-462)CAG>CAT	p.Q154H	STK11IP_uc010zlk.1_Missense_Mutation_p.Q143H|STK11IP_uc010zll.1_Missense_Mutation_p.Q143H|STK11IP_uc002vmm.1_Missense_Mutation_p.Q143H	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	154	LRR 2.				protein localization	cytoplasm	protein kinase binding			ovary(1)	1		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)		GGAGCCTCCAGGCATTAGAGG	0.448													T	220466796	G	T	220466796	3	4	198	1	0	0	0	0	1	0	0	0	15287	991	35	5	480	5	STK11IP	2	220466796	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	52284	220466796	22732577	227	109316											
SLC4A3	6508	broad.mit.edu	37	chr2	220496734	220496734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcggcgacacttagtgAaaaagccctcccggacgcag	13	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220496734A>G	uc002vmp.3	+	7	1125	c.856A>G	c.(856-858)AAA>GAA	p.K286E	SLC4A3_uc002vmn.2_Missense_Mutation_p.K313E|SLC4A3_uc002vmo.3_Missense_Mutation_p.K313E|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	286	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		ACACTTAGTGAAAAAGCCCTC	0.647													G	220496734	A	G	220496734	3	3	198	1	0	0	0	0	1	0	0	0	14655	247	9	3	959	3	SLC4A3	2	220496734	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	29938	220496734	22702639	228	109317											
SLC19A3	80704	broad.mit.edu	37	chr2	228564113	228564113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagaactctacaacctgCatggtcttcactccttggcc	7	13	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:228564113C>T	uc002vpi.2	-	3	407	c.318G>A	c.(316-318)ATG>ATA	p.M106I	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.M102I	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	106	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		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)	CTACAACCTGCATGGTCTTCA	0.522													T	228564113	C	T	228564113	3	4	198	1	0	0	0	0	1	0	0	0	14430	710	25	2	1188	2	SLC19A3	2	228564113	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	8067379	228564113	14635260	229	109318											
TRIP12	9320	broad.mit.edu	37	chr2	230655860	230655860	+	Frame_Shift_Del	DEL	T	T	-													cgtgccataactcatcatgcTtttttgcatttctaggggaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:230655859_230655859CT>C	uc002vpx.1	-	29	4552	c.4443_4443AG>G	c.(4441-4443)aagfs	p.K1481fs	TRIP12_uc021vxw.1_Frame_Shift_Del_p.K1466fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.K1163fs|TRIP12_uc002vpw.1_Frame_Shift_Del_p.K1433fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1433					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)		ACTCATCATGCTTTTTTGCAT	0.403													-	230655860	T	-	230655860	7	5	198	1	0	1	0	1	0	0	0	0	16553	1609	56	0	1732	0	TRIP12	2	230655860	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	2091747	230655860	12543513	230	109319											
NEU2	4759	broad.mit.edu	37	chr2	233899156	233899156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggagcctggtggtgcccGcctacgcctaccggaaactt	12	16	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:233899156G>A	uc010zmn.1	+	2	532	c.532G>A	c.(532-534)GCC>ACC	p.A178T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	178							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGTGGTGCCCGCCTACGCCTA	0.662													A	233899156	G	A	233899156	3	1	198	1	0	0	0	0	1	0	0	0	10342	1087	38	1	538	1	NEU2	2	233899156	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3243296	233899156	9300217	231	109320											
HJURP	55355	broad.mit.edu	37	chr2	234750577	234750579	+	In_Frame_Del	DEL	GAT	GAT	-													atgatgaacgttttggtggaGatgatgcttgatggctttgt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:234750576_234750578AGAT>A	uc002vvg.3	-	7	914_916	c.848_850ATCT>T	c.(847-852)atctcc>aTcc	p.S284del	HJURP_uc010znd.2_In_Frame_Del_p.S223del|HJURP_uc010zne.2_In_Frame_Del_p.S192del	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	284					CenH3-containing nucleosome assembly at centromere|cell cycle|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)		GTTTTGGTGGAGATGATGCTTGA	0.468													-	234750579	GAT	-	234750577	7	5	198	1	0	1	0	1	0	0	0	0	7189	932	33	0	1405	0	HJURP	2	234750577	In_Frame_Del	DEL	GAT	TCGA-CG-5733-01A-11D-1600-08	851421	234750577	8448796	232	109321											
MLPH	79083	broad.mit.edu	37	chr2	238434402	238434402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggctgagctctgcccGcctggaggctcccacaggat	13	16	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:238434402G>A	uc002vwt.2	+	7	1061	c.834G>A	c.(832-834)CCG>CCA	p.P278P	MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Silent_p.P278P|MLPH_uc002vwu.2_Silent_p.P278P|MLPH_uc002vwv.2_Silent_p.P238P|MLPH_uc002vww.2_Silent_p.P254P|MLPH_uc002vwx.2_Silent_p.P162P|MLPH_uc010fyu.2_Missense_Mutation_p.R77H	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	278							metal ion binding			ovary(1)	1		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)		AGCTCTGCCCGCCTGGAGGCT	0.672													A	238434402	G	A	238434402	2	1	198	1	0	0	0	0	0	0	0	1	9633	1074	38	1		1	MLPH	2	238434402	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3683825	238434402	4764971	233	109322											
HDAC4	9759	broad.mit.edu	37	chr2	240078398	240078398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgtacattcccaggaccGggtggttataggaggtcgac	14	10	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:240078398G>A	uc002vyk.3	-	7	1475	c.683C>T	c.(682-684)CCG>CTG	p.P228L	HDAC4_uc010fyz.1_Missense_Mutation_p.P223L|HDAC4_uc010zoa.1_Missense_Mutation_p.P223L|HDAC4_uc010fza.2_Missense_Mutation_p.P228L|HDAC4_uc010fyy.2_Missense_Mutation_p.P180L|HDAC4_uc010znz.1_Missense_Mutation_p.P111L|HDAC4_uc010fzb.1_5'Flank	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	228	Interaction with MEF2A.				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			breast(3)|skin(2)|ovary(1)	6		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)		TCCCAGGACCGGGTGGTTATA	0.567													A	240078398	G	A	240078398	3	1	198	1	0	0	0	0	1	0	0	0	7009	1116	39	1	2655	1	HDAC4	2	240078398	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1643996	240078398	3120975	234	109323											
CAPN10	11132	broad.mit.edu	37	chr2	241555834	241555834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgcagcttcctgcagaCtggacttgcaaagtccagcc	10	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:241555834C>T	uc002vzq.1	+	3	480	c.303C>T	c.(301-303)GAC>GAT	p.D101D	GPR35_uc010fzh.1_5'UTR|GPR35_uc010fzi.1_5'UTR	NM_023089	NP_075577	Q9HC96	CAN10_HUMAN	calpain 10 isoform g	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(3)|large_intestine(2)|lung(1)	6		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)		ttcctgcagactggacttgca	0.219													T	241555834	C	T	241555834	2	4	198	1	0	0	0	0	0	0	0	1	2623	564	20	4		4	CAPN10	2	241555834	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1477436	241555834	1643539	235	109324											
THAP4	51078	broad.mit.edu	37	chr2	242572334	242572334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggctccggtactgaccgCggctgggcgacagcaggcta	16	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:242572334C>T	uc002wbt.2	-	2	1461	c.1238G>A	c.(1237-1239)CGC>CAC	p.R413H		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	413							DNA binding|metal ion binding				0		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)		GTACTGACCGCGGCTGGGCGA	0.622													T	242572334	C	T	242572334	3	4	198	1	0	0	0	0	1	0	0	0	15843	768	27	1	523	1	THAP4	2	242572334	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1016500	242572334	627039	236	109325											
CNTN4	152330	broad.mit.edu	37	chr3	3085297	3085297	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcaaccccccggaaAcatcatatggaattcatcag	6	13	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:3085297A>C	uc003bpc.2	+	22	2941	c.2720A>C	c.(2719-2721)AAC>ACC	p.N907T	CNTN4_uc003bpe.2_Missense_Mutation_p.N579T|CNTN4_uc003bpf.2_Missense_Mutation_p.N578T|CNTN4_uc003bpg.2_Missense_Mutation_p.N163T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	907	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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCCCCCGGAAACATCATATGG	0.363													C	3085297	A	C	3085297	3	2	198	1	0	0	0	0	1	0	0	0	3643	43	2	5	2798	5	CNTN4	3	3085297	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08		3085297	194937133	237	109326											
TRNT1	51095	broad.mit.edu	37	chr3	3189371	3189371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacccattgaaaccctatcAagacttcattatagatgtaa	5	9	2	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:3189371A>G	uc003bpp.3	+	7	1142	c.1040A>G	c.(1039-1041)CAA>CGA	p.Q347R	TRNT1_uc010hbv.2_Missense_Mutation_p.Q327R|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	347					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AAACCCTATCAAGACTTCATT	0.294													G	3189371	A	G	3189371	3	3	198	1	0	0	0	0	1	0	0	0	16570	130	5	3	1062	3	TRNT1	3	3189371	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	104074	3189371	194833059	238	109327											
SLC6A11	6538	broad.mit.edu	37	chr3	10979960	10979960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagaagttgacgacccccAgcacagatctgaaaatgcgg	10	12	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:10979960A>G	uc003bvz.2	+	14	1805	c.1771A>G	c.(1771-1773)AGC>GGC	p.S591G		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	591	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GACGACCCCCAGCACAGATCT	0.567													G	10979960	A	G	10979960	3	3	198	1	0	0	0	0	1	0	0	0	14674	188	7	3	1825	3	SLC6A11	3	10979960	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	7790589	10979960	187042470	239	109328											
FBLN2	2199	broad.mit.edu	37	chr3	13655590	13655590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatcatgtcatgctctcctGctgtgagggtgaagagcctc	11	11	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:13655590G>T	uc011avb.1	+	5	1780	c.1655G>T	c.(1654-1656)TGC>TTC	p.C552F	FBLN2_uc011auz.1_Missense_Mutation_p.C578F|FBLN2_uc011ava.1_Missense_Mutation_p.C552F|FBLN2_uc011avc.1_Missense_Mutation_p.C552F|uc003byc.1_5'Flank	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	552	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATGCTCTCCTGCTGTGAGGGT	0.627													T	13655590	G	T	13655590	3	4	198	1	0	0	0	0	1	0	0	0	5699	1319	46	5	359	5	FBLN2	3	13655590	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2675630	13655590	184366840	240	109329											
SATB1	6304	broad.mit.edu	37	chr3	18390730	18390730	+	Frame_Shift_Del	DEL	A	A	-													ctcttcttctagtttcactgAaaaaagggtgttagtatttt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:18390729_18390729GA>G	uc003cbh.3	-	10	3960	c.2225_2225TC>C	c.(2224-2226)tcafs	p.S742fs	SATB1_uc003cbi.3_Frame_Shift_Del_p.S774fs|SATB1_uc003cbj.3_Frame_Shift_Del_p.S742fs	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	742					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TAGTTTCACTGAAAAAAGGGT	0.383													-	18390730	A	-	18390730	7	5	198	1	0	1	0	1	0	0	0	0	13853	246	9	0	71	0	SATB1	3	18390730	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	4735140	18390730	179631700	241	109330											
KCNH8	131096	broad.mit.edu	37	chr3	19389298	19389298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcatacttctgcattttAgcacttttaaagctggctgg	7	8	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:19389298A>G	uc003cbk.1	+	5	847	c.652A>G	c.(652-654)AGC>GGC	p.S218G	KCNH8_uc011awe.1_Missense_Mutation_p.S218G|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	218	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TCTGCATTTTAGCACTTTTAA	0.373													G	19389298	A	G	19389298	3	3	198	1	0	0	0	0	1	0	0	0	8038	420	15	3	670	3	KCNH8	3	19389298	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	998568	19389298	178633132	242	109331											
SGOL1	151648	broad.mit.edu	37	chr3	20212216	20212217	+	Splice_Site	INS	-	-	T													cattgtatttgtttcatactINSttttttagaacgtctcaaat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:20212215_20212216C>CT	uc003cbu.3	-	8	1719	c.1564_splice	c.e8+1	p.R522_splice	SGOL1_uc003cbw.3_Splice_Site_p.R253_splice|SGOL1_uc003cbv.3_Splice_Site_p.R270_splice|SGOL1_uc003cbt.3_Splice_Site_p.R270_splice|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Splice_Site_p.R522_splice|SGOL1_uc003cbr.3_Splice_Site_p.R253_splice|SGOL1_uc003ccc.3_Frame_Shift_Ins_p.S253fs|SGOL1_uc021wtx.1_Frame_Shift_Ins_p.S149fs|SGOL1_uc021wty.1_Frame_Shift_Ins_p.S132fs|SGOL1_uc003ccb.3_Frame_Shift_Ins_p.S270fs|SGOL1_uc003cca.3_Frame_Shift_Ins_p.S522fs|SGOL1_uc003cby.3_Frame_Shift_Ins_p.S253fs|SGOL1_uc003cbx.3_Frame_Shift_Ins_p.S270fs|SGOL1_uc003cbz.3_Frame_Shift_Ins_p.S522fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	522					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTGTTTCATACTTTTTTTAGAA	0.342													T	20212217	-	T	20212216	8	5	198	1	0	1	1	0	0	0	1	0	14216	1623	56	0	149	0	SGOL1	3	20212216	Splice_Site	INS	-	TCGA-CG-5733-01A-11D-1600-08	822918	20212216	177810214	243	109332											
RBMS3	27303	broad.mit.edu	37	chr3	29910399	29910399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggaggacaaaagaagCgacagaatcaaagcaaatat	10	6	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:29910399C>T	uc003cel.2	+	7	918	c.688C>T	c.(688-690)CGA>TGA	p.R230*	RBMS3_uc003cek.2_Nonsense_Mutation_p.R230*|RBMS3_uc010hfq.2_Nonsense_Mutation_p.R230*|RBMS3_uc003cem.2_Nonsense_Mutation_p.R229*|RBMS3_uc010hfr.2_Nonsense_Mutation_p.R230*	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	230						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ACAAAAGAAGCGACAGAATCA	0.458													T	29910399	C	T	29910399	4	4	198	1	0	0	0	0	0	1	0	0	13150	760	27	1	714	1	RBMS3	3	29910399	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	9698183	29910399	168112031	244	109333											
GADL1	339896	broad.mit.edu	37	chr3	30880509	30880509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctacatgaagccagaggcTgtgcctctcgcagatgtctg	11	11	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:30880509T>C	uc003cep.2	-	9	930	c.883A>G	c.(883-885)AGC>GGC	p.S295G	GADL1_uc003ceq.1_Missense_Mutation_p.S295G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	295					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	AGCCAGAGGCTGTGCCTCTCG	0.438													C	30880509	T	C	30880509	3	2	198	1	0	0	0	0	1	0	0	0	6185	1580	55	3	710	3	GADL1	3	30880509	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	970110	30880509	167141921	245	109334											
SUSD5	26032	broad.mit.edu	37	chr3	33249394	33249394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgatttgctgttctccActtcctttgctacacacagt	5	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:33249394A>G	uc003cfo.1	-	3	733	c.315T>C	c.(313-315)AGT>AGC	p.S105S		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	105	Extracellular (Potential).|Link.				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GCTGTTCTCCACTTCCTTTGC	0.413													G	33249394	A	G	33249394	2	3	198	1	0	0	0	0	0	0	0	1	15408	156	6	3		3	SUSD5	3	33249394	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2368885	33249394	164773036	246	109335											
SLC22A13	9390	broad.mit.edu	37	chr3	38317132	38317132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagacacccccagctcCggaaggtgaccctgattatc	9	14	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:38317132C>T	uc003chz.3	+	6	1045	c.991C>T	c.(991-993)CGG>TGG	p.R331W	SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.R331W	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	331	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CCCCCAGCTCCGGAAGGTGAC	0.597													T	38317132	C	T	38317132	3	4	198	1	0	0	0	0	1	0	0	0	14444	643	23	1	1013	1	SLC22A13	3	38317132	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5067738	38317132	159705298	247	109336											
GORASP1	64689	broad.mit.edu	37	chr3	39141917	39141917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagaaggtggtggggtgCcaggtggcttcttgtggtag	20	5	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:39141917C>T	uc003ciw.1	-	6	742	c.644G>A	c.(643-645)GGC>GAC	p.G215D	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Missense_Mutation_p.G120D|GORASP1_uc003ciz.1_Missense_Mutation_p.G60D	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	215	Pro-rich.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGGTGGGGTGCCAGGTGGCTT	0.597													T	39141917	C	T	39141917	3	4	198	1	0	0	0	0	1	0	0	0	6575	739	26	2	694	2	GORASP1	3	39141917	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	824785	39141917	158880513	248	109337											
VIPR1	7433	broad.mit.edu	37	chr3	42576492	42576492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccaggtccacactcctgCtgatccccctgtttggagta	9	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:42576492C>T	uc003clf.2	+	11	1160	c.1036C>T	c.(1036-1038)CTG>TTG	p.L346L	VIPR1_uc011azl.1_Silent_p.L298L|VIPR1_uc011azm.1_Silent_p.L136L|VIPR1_uc011azn.1_Silent_p.L319L|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	346	Helical; Name=6; (Potential).				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			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CACACTCCTGCTGATCCCCCT	0.532													T	42576492	C	T	42576492	2	4	198	1	0	0	0	0	0	0	0	1	17166	796	28	2		2	VIPR1	3	42576492	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3434575	42576492	155445938	249	109338											
ZNF167	55888	broad.mit.edu	37	chr3	44598791	44598791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccgctggtggctcatGccagaggtgcacaccaagga	13	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:44598791G>A	uc010hin.2	+	2	640	c.252G>A	c.(250-252)ATG>ATA	p.M84I	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.M84I|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.M84I|ZNF167_uc003cnk.2_Missense_Mutation_p.M84I	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	84	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GGTGGCTCATGCCAGAGGTGC	0.602													A	44598791	G	A	44598791	3	1	198	1	0	0	0	0	1	0	0	0	17738	1319	46	2	254	2	ZNF167	3	44598791	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2022299	44598791	153423639	250	109339											
ZNF502	91392	broad.mit.edu	37	chr3	44763810	44763810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgtgagaaaaccttcCgcaagtatgcacaccttagt	10	9	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:44763810C>T	uc011baa.1	+	4	1756	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	ZNF502_uc003cns.2_Missense_Mutation_p.R501C|ZNF502_uc011bab.1_Missense_Mutation_p.R501C|ZNF502_uc003cnt.2_Missense_Mutation_p.R501C	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	501	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAAAACCTTCCGCAAGTATGC	0.413													T	44763810	C	T	44763810	3	4	198	1	0	0	0	0	1	0	0	0	17947	652	23	1	1507	1	ZNF502	3	44763810	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	165019	44763810	153258620	251	109340											
LARS2	23395	broad.mit.edu	37	chr3	45435951	45435951	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttctgaagaatggcTtctgtttggcagagattggg	12	8	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:45435951T>G	uc003cop.1	+	3	191	c.6T>G	c.(4-6)GCT>GCG	p.A2A	LARS2_uc010hit.1_Silent_p.A2A	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	2					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GAAGAATGGCTTCTGTTTGGC	0.473													G	45435951	T	G	45435951	2	3	198	1	0	0	0	0	0	0	0	1	8635	1596	56	5		5	LARS2	3	45435951	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	672141	45435951	152586479	252	109341											
LRRC2	79442	broad.mit.edu	37	chr3	46571410	46571410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacctgtctatatcttgcGgcaggtcggtcaggttattg	12	9	3	0	rs142961281		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:46571410G>A	uc010hji.2	-	6	1122	c.758C>T	c.(757-759)CCG>CTG	p.P253L	LRRC2_uc003cpu.3_Missense_Mutation_p.P253L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	253	LRR 6.									ovary(1)	1		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)		TATATCTTGCGGCAGGTCGGT	0.418													A	46571410	G	A	46571410	3	1	198	1	0	0	0	0	1	0	0	0	8976	1116	39	1	373	1	LRRC2	3	46571410	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1135459	46571410	151451020	253	109342											
DHX30	22907	broad.mit.edu	37	chr3	47891514	47891514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgcacttccccccagCgtacaggaggagcacgggca	13	15	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:47891514C>T	uc003cru.2	+	22	3915	c.3489C>T	c.(3487-3489)AGC>AGT	p.S1163S	DHX30_uc003crt.2_Silent_p.S1124S	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1163						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCCCCCAGCGTACAGGAGG	0.682											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47891514	C	T	47891514	2	4	198	1	0	0	0	0	0	0	0	1	4504	767	27	1		1	DHX30	3	47891514	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1320104	47891514	150130916	254	109343											
CDC25A	993	broad.mit.edu	37	chr3	48200922	48200923	+	Frame_Shift_Ins	INS	-	-	TC													gtattcattacccaggcgatINSctctctctctcacataccgg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:48200921_48200922A>ATC	uc003csh.1	-	13	1710_1711	c.1346_1347T>GAT	c.(1345-1347)gatfs	p.D449fs	CDC25A_uc003csi.1_Frame_Shift_Ins_p.D409fs|CDC25A_uc021wxk.1_Frame_Shift_Ins_p.D408fs	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	449	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	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)		TACCCAGGCGATCTCTCTCTCT	0.515													TC	48200923	-	TC	48200922	7	5	198	1	0	1	1	0	0	0	0	0	3062	1435	50	0	236	0	CDC25A	3	48200922	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	309408	48200922	149821508	255	109344											
BSN	8927	broad.mit.edu	37	chr3	49694830	49694830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgactgcagtgtgcagaCggacgacgaagacagtgctg	15	9	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:49694830C>T	uc003cxe.3	+	5	7955	c.7841C>T	c.(7840-7842)ACG>ATG	p.T2614M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2614					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGTGTGCAGACGGACGACGAA	0.657													T	49694830	C	T	49694830	3	4	198	1	0	0	0	0	1	0	0	0	1530	536	19	1	7859	1	BSN	3	49694830	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1493908	49694830	148327600	256	109345											
RPL29	6159	broad.mit.edu	37	chr3	52027966	52027966	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaatgtaggcaagtcgatcGagcttgcggctgacaccctt	12	11	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52027966G>A	uc003dcs.2	-	4	373	c.279C>T	c.(277-279)CTC>CTT	p.L93L		NM_000992	NP_000983	P47914	RL29_HUMAN	ribosomal protein L29	93					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAAGTCGATCGAGCTTGCGGC	0.532													A	52027966	G	A	52027966	2	1	198	1	0	0	0	0	0	0	0	1	13578	1045	37	1		1	RPL29	3	52027966	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2333136	52027966	145994464	257	109346											
SEMA3G	56920	broad.mit.edu	37	chr3	52475387	52475387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcattgtcctggtcagAgttctcagggatccgggcgg	14	10	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52475387A>G	uc003dea.1	-	7	706	c.706T>C	c.(706-708)TCT>CCT	p.S236P		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	236	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				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)		TCCTGGTCAGAGTTCTCAGGG	0.627													G	52475387	A	G	52475387	3	3	198	1	0	0	0	0	1	0	0	0	14030	304	11	3	1682	3	SEMA3G	3	52475387	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	447421	52475387	145547043	258	109347											
STAB1	23166	broad.mit.edu	37	chr3	52539927	52539927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaactgcaggagttggtgcGgtaccacatctacaaccacg	10	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52539927G>A	uc003dej.2	+	16	1798	c.1724G>A	c.(1723-1725)CGG>CAG	p.R575Q	STAB1_uc003dei.1_Missense_Mutation_p.R575Q	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	575	Extracellular (Potential).|FAS1 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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		GAGTTGGTGCGGTACCACATC	0.627													A	52539927	G	A	52539927	3	1	198	1	0	0	0	0	1	0	0	0	15236	1116	39	1	1786	1	STAB1	3	52539927	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	64540	52539927	145482503	259	109348											
PBRM1	55193	broad.mit.edu	37	chr3	52613112	52613113	+	Frame_Shift_Del	DEL	AC	AC	-													ggccatgggacttgatgaagAcacagtcgccaaccttcagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52613111_52613112GAC>G	uc003des.2	-	20	3503_3504	c.3491_3492GTC>C	c.(3490-3492)gtcfs	p.V1164fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.V1164fs|PBRM1_uc003der.2_Frame_Shift_Del_p.V1132fs|PBRM1_uc003det.2_Frame_Shift_Del_p.V1179fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.V1179fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.V1164fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.V1139fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.V1139fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.V1163fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1164	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin 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)		ACTTGATGAAGACACAGTCGCC	0.48			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52613113	AC	-	52613112	7	5	198	1	0	1	0	1	0	0	0	0	11491	275	10	0	1449	0	PBRM1	3	52613112	Frame_Shift_Del	DEL	AC	TCGA-CG-5733-01A-11D-1600-08	73185	52613112	145409318	260	109349											
PBRM1	55193	broad.mit.edu	37	chr3	52712570	52712570	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgccctgttcatccTtatagtctcggatggtatta	9	9	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52712570T>G	uc003des.2	-	2	194	c.182A>C	c.(181-183)AAG>ACG	p.K61T	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.K61T|PBRM1_uc003der.2_Missense_Mutation_p.K61T|PBRM1_uc003det.2_Missense_Mutation_p.K61T|PBRM1_uc003deu.2_Missense_Mutation_p.K61T|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.K61T|PBRM1_uc010hmk.1_Missense_Mutation_p.K61T|PBRM1_uc003dey.2_Missense_Mutation_p.K61T|PBRM1_uc003dez.1_Missense_Mutation_p.K61T|PBRM1_uc003dfb.1_5'UTR	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	61					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				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)		CTGTTCATCCTTATAGTCTCG	0.443			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								G	52712570	T	G	52712570	3	3	198	1	0	0	0	0	1	0	0	0	11491	1609	56	5	4834	5	PBRM1	3	52712570	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	99458	52712570	145309860	261	109350											
FLNB	2317	broad.mit.edu	37	chr3	58118575	58118576	+	Frame_Shift_Ins	INS	-	-	CA													tggtggacaatggagatggcINSacacacacagtaacctacac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:58118574_58118575G>GCA	uc003djj.2	+	25	4595_4596	c.4430_4431G>GCA	c.(4429-4431)ggcfs	p.G1477fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.G1508fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.G1308fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.G1308fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1477	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AATGGAGATGGCACACACACAG	0.52													CA	58118576	-	CA	58118575	7	5	198	1	0	1	1	0	0	0	0	0	5934	697	25	0	4630	0	FLNB	3	58118575	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	5406005	58118575	139903855	262	109351											
FAM3D	131177	broad.mit.edu	37	chr3	58629428	58629428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcctctgcccacattgtTtttcacaggactcatgatcc	7	13	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:58629428T>C	uc003dkq.2	-	6	580	c.283A>G	c.(283-285)AAC>GAC	p.N95D		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	95					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCCACATTGTTTTTCACAGGA	0.527													C	58629428	T	C	58629428	3	2	198	1	0	0	0	0	1	0	0	0	5559	1841	64	3	411	3	FAM3D	3	58629428	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	510853	58629428	139393002	263	109352											
C3orf67	200844	broad.mit.edu	37	chr3	58817562	58817562	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccgtaggcttgctagcatCtgtaactcggattcactcat	8	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:58817562C>A	uc003dkt.1	-	13	1681	c.1272G>T	c.(1270-1272)CAG>CAT	p.Q424H	C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.Q365H|uc003dku.1_Intron	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGCTAGCATCTGTAACTCGG	0.488													A	58817562	C	A	58817562	3	1	198	1	0	0	0	0	1	0	0	0	2241	912	32	5	435	5	C3orf67	3	58817562	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	188134	58817562	139204868	264	109353											
THOC7	80145	broad.mit.edu	37	chr3	63825343	63825343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaatacccctcttcctgGgacccagagttgcaccattt	7	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:63825343G>A	uc003dlt.3	-	2	257	c.126C>T	c.(124-126)TCC>TCT	p.S42S	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Intron	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	42					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CCTCTTCCTGGGACCCAGAGT	0.413													A	63825343	G	A	63825343	2	1	198	1	0	0	0	0	0	0	0	1	15867	1219	43	4		4	THOC7	3	63825343	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5007781	63825343	134197087	265	109354											
ADAMTS9	56999	broad.mit.edu	37	chr3	64619547	64619547	+	Frame_Shift_Del	DEL	T	T	-													ctacacagtattttccaccaTtttttggtctgaaaaagaaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:64619546_64619546AT>A	uc003dmg.3	-	12	1898	c.1866_1866AT>T	c.(1864-1866)aatfs	p.N622fs	ADAMTS9_uc011bfo.2_Frame_Shift_Del_p.N594fs|ADAMTS9_uc003dmh.1_Frame_Shift_Del_p.N451fs|ADAMTS9_uc003dmk.1_Frame_Shift_Del_p.N622fs	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	622	TSP type-1 1.				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)		ATTTTCCACCATTTTTTGGTC	0.408													-	64619547	T	-	64619547	7	5	198	1	0	1	0	1	0	0	0	0	273	1493	52	0	4050	0	ADAMTS9	3	64619547	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	794204	64619547	133402883	266	109355											
LRIG1	26018	broad.mit.edu	37	chr3	66434452	66434452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattagctgaaatagaaccGgctgagttctgagcagtaca	11	8	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:66434452G>A	uc003dmx.2	-	14	2048	c.2034C>T	c.(2032-2034)GCC>GCT	p.A678A	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.A298A|LRIG1_uc003dmw.2_Silent_p.A344A|LRIG1_uc010hnz.2_Silent_p.A394A|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	678	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAATAGAACCGGCTGAGTTCT	0.433													A	66434452	G	A	66434452	2	1	198	1	0	0	0	0	0	0	0	1	8944	1103	39	1		1	LRIG1	3	66434452	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1814905	66434452	131587978	267	109356											
ROBO2	6092	broad.mit.edu	37	chr3	77666706	77666706	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaccattgccagtacaaacTtacttacaccaaggtctgga	6	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:77666706T>A	uc003dpy.3	+	22	3979	c.3336T>A	c.(3334-3336)ACT>ACA	p.T1112T	ROBO2_uc003dpz.2_Silent_p.T1116T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.T1116T|ROBO2_uc003dqa.2_Silent_p.T239T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1112	Cytoplasmic (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		CAGTACAAACTTACTTACACC	0.428													A	77666706	T	A	77666706	2	1	198	1	0	0	0	0	0	0	0	1	13514	1596	56	5		5	ROBO2	3	77666706	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	11232254	77666706	120355724	268	109357											
MINA	84864	broad.mit.edu	37	chr3	97677936	97677936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcctgccgatcctttcctCggcctccacgctgtactctc	8	19	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:97677936C>T	uc003drz.1	-	4	1146	c.640G>A	c.(640-642)GAG>AAG	p.E214K	MINA_uc003dsa.1_Missense_Mutation_p.E214K|MINA_uc003dsb.1_Missense_Mutation_p.E214K|MINA_uc003dsc.1_Missense_Mutation_p.E214K|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	214	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						ATCCTTTCCTCGGCCTCCACG	0.557													T	97677936	C	T	97677936	3	4	198	1	0	0	0	0	1	0	0	0	9586	893	31	1	785	1	MINA	3	97677936	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	20011230	97677936	100344494	269	109358											
RG9MTD1	54931	broad.mit.edu	37	chr3	101283606	101283619	+	Splice_Site	DEL	TTTTACAGGGGTTT	TTTTACAGGGGTTT	-													ttttaattgcatttttcttcTtttacaggggttttgttaca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:101283605_101283618CTTTTACAGGGGTTT>C	uc003duz.3	+	2	137	c.-11_splice	c.e2-1		RG9MTD1_uc021xbw.1_5'Flank	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.						tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CATTTTTCTTCTTTTACAGGGGTTTTGTTACATG	0.299													-	101283619	TTTTACAGGGGTTT	-	101283606	8	5	198	1	0	1	0	1	0	0	1	0	13271	1624	56	0		0	RG9MTD1	3	101283606	Splice_Site	DEL	TTTTACAGGGGTTT	TCGA-CG-5733-01A-11D-1600-08	3605670	101283606	96738824	270	109359											
GUCA1C	9626	broad.mit.edu	37	chr3	108635037	108635037	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcaggactcagagtttGctggccattgagggcttgta	12	8	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:108635037G>A	uc003dxj.2	-	3	447	c.379C>T	c.(379-381)CAA>TAA	p.Q127*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.Q127*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	127					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						CTCAGAGTTTGCTGGCCATTG	0.403													A	108635037	G	A	108635037	4	1	198	1	0	0	0	0	0	1	0	0	6890	1328	46	2	258	2	GUCA1C	3	108635037	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7351431	108635037	89387393	271	109360											
C3orf17	25871	broad.mit.edu	37	chr3	112724442	112724442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccttaatggttcctgAtgtactgtttttatttattt	6	6	1	1	rs150027810		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:112724442A>G	uc003dzr.2	-	9	1706	c.1645T>C	c.(1645-1647)TCA>CCA	p.S549P	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.S174P|C3orf17_uc011bhz.1_Missense_Mutation_p.S174P|C3orf17_uc010hqh.2_Missense_Mutation_p.S174P|C3orf17_uc003dzt.2_Missense_Mutation_p.S452P|C3orf17_uc003dzs.2_Missense_Mutation_p.S413P|C3orf17_uc010hqg.2_Missense_Mutation_p.S374P|C3orf17_uc011bia.1_Missense_Mutation_p.S346P|C3orf17_uc003dzu.2_Missense_Mutation_p.S478P|C3orf17_uc011bib.1_Missense_Mutation_p.S438P|C3orf17_uc011bic.1_Missense_Mutation_p.S382P|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	549						integral to membrane					0						ATGGTTCCTGATGTACTGTTT	0.338													G	112724442	A	G	112724442	3	3	198	1	0	0	0	0	1	0	0	0	2210	333	12	3	62	3	C3orf17	3	112724442	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4089405	112724442	85297988	272	109361											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	198	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1333561	114058003	83964427	273	109362											
C3orf15	89876	broad.mit.edu	37	chr3	119434506	119434506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgattatcgggatgctgacGttcaaacagatccatactct	8	10	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:119434506G>A	uc003ede.3	+	6	675	c.598G>A	c.(598-600)GTT>ATT	p.V200I	C3orf15_uc003edc.2_Missense_Mutation_p.V200I|C3orf15_uc010hqy.1_Missense_Mutation_p.V200I|C3orf15_uc010hqz.2_Missense_Mutation_p.V138I|C3orf15_uc011bjd.1_Missense_Mutation_p.V74I|C3orf15_uc011bje.1_Missense_Mutation_p.V180I|C3orf15_uc010hra.1_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	200						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		GGATGCTGACGTTCAAACAGA	0.463													A	119434506	G	A	119434506	3	1	198	1	0	0	0	0	1	0	0	0	2209	1145	40	1	620	1	C3orf15	3	119434506	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5376503	119434506	78587924	274	109363											
POLQ	10721	broad.mit.edu	37	chr3	121206287	121206287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagattttggtcacttgCtacatcaattatggacaaac	7	7	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121206287C>T	uc003eee.3	-	16	5620	c.5491G>A	c.(5491-5493)GCA>ACA	p.A1831T	POLQ_uc003eed.2_Missense_Mutation_p.A1003T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1831					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TGGTCACTTGCTACATCAATT	0.393								DNA_polymerases_(catalytic_subunits)					T	121206287	C	T	121206287	3	4	198	1	0	0	0	0	1	0	0	0	12208	797	28	2	2341	2	POLQ	3	121206287	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1771781	121206287	76816143	275	109364											
POLQ	10721	broad.mit.edu	37	chr3	121238933	121238933	+	Splice_Site	DEL	A	A	-													tctcctcaaaagtaagacctAaaaaaaggaggtttttatat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|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)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)					-	121238933	A	-	121238933	8	5	198	1	0	1	0	1	0	0	1	0	12208	377	13	0		0	POLQ	3	121238933	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	32646	121238933	76783497	276	109365											
SLC15A2	6565	broad.mit.edu	37	chr3	121647836	121647836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcattttacagaaaacacCacactattccaaactgcacc	2	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121647836C>T	uc003eep.2	+	16	1502	c.1349C>T	c.(1348-1350)CCA>CTA	p.P450L	SLC15A2_uc011bjn.1_Missense_Mutation_p.P419L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	450					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAGAAAACACCACACTATTCC	0.408													T	121647836	C	T	121647836	3	4	198	1	0	0	0	0	1	0	0	0	14399	594	21	4	1411	4	SLC15A2	3	121647836	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	408903	121647836	76374594	277	109366											
CD86	942	broad.mit.edu	37	chr3	121838326	121838326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatctgatgaagcccagcGtgtttttaaaagttcgaaga	10	6	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121838326G>A	uc003eet.2	+	7	1051	c.935G>A	c.(934-936)CGT>CAT	p.R312H	CD86_uc011bjo.1_Missense_Mutation_p.R230H|CD86_uc011bjp.1_Missense_Mutation_p.R200H|CD86_uc003eeu.2_Missense_Mutation_p.R306H	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	312	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GAAGCCCAGCGTGTTTTTAAA	0.323													A	121838326	G	A	121838326	3	1	198	1	0	0	0	0	1	0	0	0	3043	1145	40	1	961	1	CD86	3	121838326	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	190490	121838326	76184104	278	109367											
SEMA5B	54437	broad.mit.edu	37	chr3	122631702	122631702	+	Frame_Shift_Del	DEL	G	G	-													agggttacctgggcaagcctGggggttgcagtcctggtact							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:122631702delG	uc003efz.1	-	18	3017	c.2713delC	c.(2713-2715)CAGfs	p.Q905fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.Q847fs|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Frame_Shift_Del_p.Q905fs|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	905	Extracellular (Potential).|TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGGCAAGCCTGGGGGTTGCAG	0.677													-	122631702	G	-	122631702	7	5	198	1	0	1	0	1	0	0	0	0	14038	1357	47	0	766	0	SEMA5B	3	122631702	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	793376	122631702	75390728	279	109368											
MYLK	4638	broad.mit.edu	37	chr3	123367879	123367879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcagtattgattgtcaCtgtccggtaatcaacctcgg	9	9	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:123367879C>T	uc003ego.2	-	26	4636	c.4354G>A	c.(4354-4356)GTG>ATG	p.V1452M	MYLK_uc010hrr.2_Translation_Start_Site|MYLK_uc011bjv.1_Missense_Mutation_p.V252M|MYLK_uc011bjw.1_Missense_Mutation_p.V1452M|MYLK_uc003egp.2_Missense_Mutation_p.V1383M|MYLK_uc003egq.2_Missense_Mutation_p.V1452M|MYLK_uc003egr.2_Missense_Mutation_p.V1383M|MYLK_uc003egs.2_Missense_Mutation_p.V1276M	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1452	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGATTGTCACTGTCCGGTAA	0.537													T	123367879	C	T	123367879	3	4	198	1	0	0	0	0	1	0	0	0	10056	565	20	4	1426	4	MYLK	3	123367879	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	736177	123367879	74654551	280	109369											
KALRN	8997	broad.mit.edu	37	chr3	124437898	124437898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaccctgagtttgctGccccagaagtcattcaaggc	12	11	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:124437898G>A	uc003ehg.2	+	60	8669	c.8542G>A	c.(8542-8544)GCC>ACC	p.A2848T	KALRN_uc003ehk.2_Missense_Mutation_p.A1151T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2847	Protein kinase.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TGAGTTTGCTGCCCCAGAAGT	0.557													A	124437898	G	A	124437898	3	1	198	1	0	0	0	0	1	0	0	0	7975	1319	46	2	8936	2	KALRN	3	124437898	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1070019	124437898	73584532	281	109370											
CCDC37	348807	broad.mit.edu	37	chr3	126138595	126138596	+	Frame_Shift_Ins	INS	-	-	A													aaagaaacactcgtttctcaINSaaaaggccaaggaggtctcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:126138594_126138595C>CA	uc010hsg.1	+	7	908_909	c.849_850C>CA	c.(847-852)ctcaaafs	p.L283fs	CCDC37_uc003eiu.1_Frame_Shift_Ins_p.L282fs	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	282										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)		ACTCGTTTCTCAAAAAGGCCAA	0.475													A	126138596	-	A	126138595	7	5	198	1	0	1	1	0	0	0	0	0	2809	131	5	0	877	0	CCDC37	3	126138595	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1700697	126138595	71883835	282	109371											
PLXND1	23129	broad.mit.edu	37	chr3	129289882	129289882	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcccctttggtgctcaCgtggataacgagggtgagag	15	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:129289882C>T	uc003emx.2	-	18	3700	c.3600_splice	c.e18+1	p.H1200_splice		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TTGGTGCTCACGTGGATAACG	0.647													T	129289882	C	T	129289882	5	4	198	1	0	0	0	0	0	0	1	0	12127	550	19	1	2252	1	PLXND1	3	129289882	Splice_Site	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3151287	129289882	68732548	283	109372											
TRH	7200	broad.mit.edu	37	chr3	129694799	129694799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctggatgacttcctgcGccaggtggagcgcctcctct	14	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:129694799G>A	uc003enc.2	+	2	701	c.140G>A	c.(139-141)CGC>CAC	p.R47H		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	47					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						GACTTCCTGCGCCAGGTGGAG	0.692													A	129694799	G	A	129694799	3	1	198	1	0	0	0	0	1	0	0	0	16475	1087	38	1	142	1	TRH	3	129694799	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	404917	129694799	68327631	284	109373											
COL6A6	131873	broad.mit.edu	37	chr3	130289947	130289947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcactgggcttctcagAccacatgttcactgaagccc	10	13	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:130289947A>G	uc010htl.2	+	6	2718	c.2687A>G	c.(2686-2688)GAC>GGC	p.D896G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	896	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGCTTCTCAGACCACATGTTC	0.532													G	130289947	A	G	130289947	3	3	198	1	0	0	0	0	1	0	0	0	3703	275	10	3	2709	3	COL6A6	3	130289947	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	595148	130289947	67732483	285	109374											
PIK3R4	30849	broad.mit.edu	37	chr3	130398201	130398201	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctctagaagcagttacGatgaagccctgtgtggtctg	11	10	2	2	rs140271304		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:130398201G>A	uc003enj.2	-	20	4616	c.4035C>T	c.(4033-4035)ATC>ATT	p.I1345I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1345	WD 7.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AAGCAGTTACGATGAAGCCCT	0.423													A	130398201	G	A	130398201	2	1	198	1	0	0	0	0	0	0	0	1	11921	1048	37	1		1	PIK3R4	3	130398201	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	108254	130398201	67624229	286	109375											
C3orf36	80111	broad.mit.edu	37	chr3	133647384	133647384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagtgtgctgggagcaCgcgggaggactgcgcctctg	20	9	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:133647384C>T	uc003epz.1	-	1	1273	c.264G>A	c.(262-264)GCG>GCA	p.A88A		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	88										ovary(1)	1						GCTGGGAGCACGCGGGAGGAC	0.677													T	133647384	C	T	133647384	2	4	198	1	0	0	0	0	0	0	0	1	2226	523	19	1		1	C3orf36	3	133647384	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3249183	133647384	64375046	287	109376											
EPHB1	2047	broad.mit.edu	37	chr3	134880926	134880926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaggattgatgggctgCggcctggcatggtatatgtg	16	7	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:134880926C>T	uc003eqt.2	+	7	1709	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W	EPHB1_uc003equ.2_Missense_Mutation_p.R58W	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	497	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGATGGGCTGCGGCCTGGCAT	0.527													T	134880926	C	T	134880926	3	4	198	1	0	0	0	0	1	0	0	0	5174	759	27	1	1515	1	EPHB1	3	134880926	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1233542	134880926	63141504	288	109377											
EPHB1	2047	broad.mit.edu	37	chr3	134968296	134968296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcttcctcactgctggcTtcacctccctccagctggtc	7	18	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:134968296T>C	uc003eqt.2	+	15	3029	c.2809T>C	c.(2809-2811)TTC>CTC	p.F937L	EPHB1_uc003equ.2_Missense_Mutation_p.F498L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	937	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CACTGCTGGCTTCACCTCCCT	0.557													C	134968296	T	C	134968296	3	2	198	1	0	0	0	0	1	0	0	0	5174	1609	56	3	2867	3	EPHB1	3	134968296	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	87370	134968296	63054134	289	109378											
MSL2	55167	broad.mit.edu	37	chr3	135870677	135870677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggctgaactttctcaCtgtcactctctgatctggat	9	10	4	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:135870677C>T	uc003eqx.1	-	2	1779	c.1046G>A	c.(1045-1047)AGT>AAT	p.S349N	MSL2_uc011bmb.1_Missense_Mutation_p.S275N	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	349					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						AACTTTCTCACTGTCACTCTC	0.453													T	135870677	C	T	135870677	3	4	198	1	0	0	0	0	1	0	0	0	9878	565	20	4	691	4	MSL2	3	135870677	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	902381	135870677	62151753	290	109379											
TMEM22	80723	broad.mit.edu	37	chr3	136574264	136574264	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaacctggagttatcTcattgctatatgtgtctgtt	10	6	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:136574264T>G	uc003erf.3	+	2	1176	c.962T>G	c.(961-963)CTC>CGC	p.L321R	TMEM22_uc003erg.3_Missense_Mutation_p.L321R|TMEM22_uc010hub.2_Missense_Mutation_p.L321R	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	321	DUF6 2.|Helical; (Potential).					Golgi apparatus|integral to membrane				ovary(1)	1						TGGAGTTATCTCATTGCTATA	0.393													G	136574264	T	G	136574264	3	3	198	1	0	0	0	0	1	0	0	0	16140	1551	54	5	964	5	TMEM22	3	136574264	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	703587	136574264	61448166	291	109380											
MRAS	22808	broad.mit.edu	37	chr3	138121035	138121036	+	In_Frame_Ins	INS	-	-	AGA													cagattccggaaaaaagccaINSgaagaagaagaagaaaacca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:138121034_138121035C>CAGA	uc003esh.4	+	5	1246_1247	c.550_551C>CAGA	c.(550-552)cag>CAGAg	p.Q184Q	MRAS_uc011bmi.2_In_Frame_Ins_p.Q108Q|MRAS_uc003esi.4_In_Frame_Ins_p.Q184Q|MRAS_uc021xep.1_In_Frame_Ins_p.Q108Q|MRAS_uc011bmj.2_In_Frame_Ins_p.Q108Q|MRAS_uc021xeq.1_In_Frame_Ins_p.Q184Q	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	184					Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGAAAAAAGCCAGAAGAAGAAG	0.525													AGA	138121036	-	AGA	138121035	7	5	198	1	0	1	1	0	0	0	0	0	9755	188	7	0	569	0	MRAS	3	138121035	In_Frame_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1546771	138121035	59901395	292	109381											
FOXL2	668	broad.mit.edu	37	chr3	138665150	138665150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgccggtagttgcccttctCgaacatgtcttcgcaggccg	12	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:138665150C>T	uc003esw.2	-	1	833	c.415G>A	c.(415-417)GAG>AAG	p.E139K	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	139	Fork-head.				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			ovary(266)|large_intestine(1)|skin(1)	268						TTGCCCTTCTCGAACATGTCT	0.642			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III						T	138665150	C	T	138665150	3	4	198	1	0	0	0	0	1	0	0	0	6017	893	31	1	719	1	FOXL2	3	138665150	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	544115	138665150	59357280	293	109382											
RBP2	5948	broad.mit.edu	37	chr3	139173610	139173610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatccactgcttccagccGcggttctccttctccccctt	5	19	3	0	rs141722744		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:139173610G>A	uc003eth.2	-	3	366	c.315C>T	c.(313-315)CGC>CGT	p.R105R		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	105					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			skin(1)	1					Vitamin A(DB00162)	GCTTCCAGCCGCGGTTCTCCT	0.527													A	139173610	G	A	139173610	2	1	198	1	0	0	0	0	0	0	0	1	13156	1074	38	1		1	RBP2	3	139173610	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	508460	139173610	58848820	294	109383											
ZBTB38	253461	broad.mit.edu	37	chr3	141164024	141164024	+	Frame_Shift_Del	DEL	A	A	-													aaaagaaatccagacagttgAaaaaaatgaggaaagtcaac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:141164023_141164023GA>G	uc010hup.3	+	1	2843	c.2796_2796GA>G	c.(2794-2796)ttgfs	p.L932fs	ZBTB38_uc003etw.3_Frame_Shift_Del_p.L931fs|ZBTB38_uc010hun.3_Frame_Shift_Del_p.L928fs|ZBTB38_uc010huo.3_Frame_Shift_Del_p.L931fs|ZBTB38_uc003ety.3_Frame_Shift_Del_p.L931fs|ZBTB38_uc021xes.1_Frame_Shift_Del_p.L931fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	931					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						CCAGACAGTTGAAAAAAATGA	0.483													-	141164024	A	-	141164024	7	5	198	1	0	1	0	1	0	0	0	0	17536	247	9	0	2796	0	ZBTB38	3	141164024	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	1990414	141164024	56858406	295	109384											
GRK7	131890	broad.mit.edu	37	chr3	141499527	141499527	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggatgctgcacctccaTgaactcggcatcgtctatcg	11	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:141499527T>C	uc011bnd.1	+	2	1008	c.924T>C	c.(922-924)CAT>CAC	p.H308H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	308	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						TGCACCTCCATGAACTCGGCA	0.567													C	141499527	T	C	141499527	2	2	198	1	0	0	0	0	0	0	0	1	6794	1461	51	3		3	GRK7	3	141499527	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	335503	141499527	56522903	296	109385											
CHST2	9435	broad.mit.edu	37	chr3	142840376	142840376	+	Frame_Shift_Del	DEL	G	G	-													tgtatagccccgcgggcagcGgggggcgcaacctcaccacg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:142840375_142840375CG>C	uc003evm.3	+	1	1656	c.717_717CG>C	c.(715-717)agcfs	p.S239fs	CHST2_uc021xex.1_Frame_Shift_Del_p.S239fs	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	239					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|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						CCGCGGGCAGCGGGGGGCGCA	0.677													-	142840376	G	-	142840376	7	5	198	1	0	1	0	1	0	0	0	0	3404	1116	39	0	720	0	CHST2	3	142840376	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1340849	142840376	55182054	297	109386											
CHST2	9435	broad.mit.edu	37	chr3	142840569	142840569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgcacactagtcataaAgggtgtgcgcgtcttcgacg	12	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:142840569A>G	uc003evm.2	+	2	1800	c.911A>G	c.(910-912)AAG>AGG	p.K304R		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	304	Lumenal (Potential).			K->A: Loss of function.	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			ovary(3)	3						CTAGTCATAAAGGGTGTGCGC	0.657													G	142840569	A	G	142840569	3	3	198	1	0	0	0	0	1	0	0	0	3404	72	3	3	913	3	CHST2	3	142840569	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	193	142840569	55181861	298	109387											
RNF13	11342	broad.mit.edu	37	chr3	149678725	149678725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtcatttggggctttatCggaatcccgctcacatcaga	9	12	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:149678725C>T	uc003exn.3	+	11	1764	c.980C>T	c.(979-981)TCG>TTG	p.S327L	RNF13_uc003exp.3_Missense_Mutation_p.S327L|RNF13_uc010hvh.2_Missense_Mutation_p.S208L	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	327	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGGCTTTATCGGAATCCCGC	0.413													T	149678725	C	T	149678725	3	4	198	1	0	0	0	0	1	0	0	0	13437	893	31	1	1014	1	RNF13	3	149678725	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6838156	149678725	48343705	299	109388											
P2RY12	64805	broad.mit.edu	37	chr3	151056359	151056359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgacacacaaaagttctcAgtggtcctgttcccagtttg	8	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:151056359A>G	uc003eyw.1	-	2	491	c.275T>C	c.(274-276)CTG>CCG	p.L92P	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Missense_Mutation_p.L92P|P2RY12_uc003eyx.1_Missense_Mutation_p.L92P	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	92	Extracellular (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAAGTTCTCAGTGGTCCTGT	0.353													G	151056359	A	G	151056359	3	3	198	1	0	0	0	0	1	0	0	0	11349	188	7	3	757	3	P2RY12	3	151056359	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1377634	151056359	46966071	300	109389											
MED12L	116931	broad.mit.edu	37	chr3	151072930	151072930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggacgaaggacaaaaagCcaggaagaacaaacaggaga	14	6	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:151072930C>T	uc003eyp.2	+	16	2353	c.2315C>T	c.(2314-2316)GCC>GTC	p.A772V	MED12L_uc011bnz.1_Missense_Mutation_p.A632V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_5'Flank	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	772					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGACAAAAAGCCAGGAAGAAC	0.343													T	151072930	C	T	151072930	3	4	198	1	0	0	0	0	1	0	0	0	9429	739	26	2	2377	2	MED12L	3	151072930	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	16571	151072930	46949500	301	109390											
P2RY1	5028	broad.mit.edu	37	chr3	152553984	152553984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtgaacctctatggcaGcatcttgtttctgacatgca	8	10	4	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:152553984G>A	uc003ezq.2	+	1	1249	c.413G>A	c.(412-414)AGC>AAC	p.S138N		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	138	Helical; Name=3; (Potential).			Missing (in Ref. 1; CAA89066).	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			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTCTATGGCAGCATCTTGTTT	0.498													A	152553984	G	A	152553984	3	1	198	1	0	0	0	0	1	0	0	0	11346	971	34	2	415	2	P2RY1	3	152553984	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1481054	152553984	45468446	302	109391											
CCNL1	57018	broad.mit.edu	37	chr3	156867298	156867298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagggcttttggaagccTgttgtctatcctcaggttct	11	8	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:156867298T>C	uc003fbf.2	-	9	1708	c.1109A>G	c.(1108-1110)CAG>CGG	p.Q370R	CCNL1_uc003fbd.1_Missense_Mutation_p.Q370R|CCNL1_uc003fbe.2_Missense_Mutation_p.Q164R|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.Q215R	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	370					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TTTGGAAGCCTGTTGTCTATC	0.368													C	156867298	T	C	156867298	3	2	198	1	0	0	0	0	1	0	0	0	2931	1580	55	3	483	3	CCNL1	3	156867298	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4313314	156867298	41155132	303	109392											
SMC4	10051	broad.mit.edu	37	chr3	160119879	160119879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgggacctttccatAaggtatttgtatggaaataa	8	5	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:160119879A>G	uc003fdh.2	+	3	429	c.316A>G	c.(316-318)AAG>GAG	p.K106E	IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.K106E|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.K81E|SMC4_uc003fdj.2_Missense_Mutation_p.K106E|SMC4_uc010hwd.2_Missense_Mutation_p.K106E|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	106					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACCTTTCCATAAGGTATTTGT	0.318													G	160119879	A	G	160119879	3	3	198	1	0	0	0	0	1	0	0	0	14785	363	13	3	322	3	SMC4	3	160119879	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3252581	160119879	37902551	304	109393											
SMC4	10051	broad.mit.edu	37	chr3	160142781	160142781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgagaaatgaggaacacaCtagaaaaatttactgcaagc	8	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:160142781C>T	uc003fdh.2	+	16	2565	c.2452C>T	c.(2452-2454)CTA>TTA	p.L818L	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Silent_p.L582L|SMC4_uc003fdi.2_Silent_p.L793L|SMC4_uc003fdj.2_Silent_p.L818L|SMC4_uc010hwd.2_Silent_p.L818L|SMC4_uc003fdl.2_Silent_p.L521L	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	818	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAGGAACACACTAGAAAAATT	0.299													T	160142781	C	T	160142781	2	4	198	1	0	0	0	0	0	0	0	1	14785	564	20	4		4	SMC4	3	160142781	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	22902	160142781	37879649	305	109394											
SI	6476	broad.mit.edu	37	chr3	164754250	164754250	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaatgcgactataagtccTagaggattcttacggctgtt	9	9	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:164754250T>C	uc003fei.2	-	22	2504	c.2442A>G	c.(2440-2442)CTA>CTG	p.L814L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	814	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTATAAGTCCTAGAGGATTCT	0.338										HNSCC(35;0.089)			C	164754250	T	C	164754250	2	2	198	1	0	0	0	0	0	0	0	1	14297	1509	53	3		3	SI	3	164754250	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4611469	164754250	33268180	306	109395											
SI	6476	broad.mit.edu	37	chr3	164780247	164780247	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtaactctatatgttactAttggagtaggctggataaaa	10	5	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:164780247A>G	uc003fei.2	-	9	994	c.932T>C	c.(931-933)ATA>ACA	p.I311T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	311	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATATGTTACTATTGGAGTAGG	0.328										HNSCC(35;0.089)			G	164780247	A	G	164780247	3	3	198	1	0	0	0	0	1	0	0	0	14297	449	16	3	4711	3	SI	3	164780247	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	25997	164780247	33242183	307	109396											
SI	6476	broad.mit.edu	37	chr3	164786978	164786978	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcctctctgtgcacaAattccctgataaaatatttt	5	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:164786978A>G	uc003fei.2	-	4	323	c.261T>C	c.(259-261)ATT>ATC	p.I87I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	87	Lumenal.|P-type 1.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGCACAAATTCCCTGAT	0.348										HNSCC(35;0.089)			G	164786978	A	G	164786978	2	3	198	1	0	0	0	0	0	0	0	1	14297	10	1	3		3	SI	3	164786978	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	6731	164786978	33235452	308	109397											
BCHE	590	broad.mit.edu	37	chr3	165548072	165548072	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattaaaggatccactttgCagaatggctctggtgaacaa	10	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:165548072C>A	uc003fem.3	-	2	910	c.750G>T	c.(748-750)CTG>CTT	p.L250L	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	250					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			ovary(3)|pancreas(1)	4					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)	ATCCACTTTGCAGAATGGCTC	0.438													A	165548072	C	A	165548072	2	1	198	1	0	0	0	0	0	0	0	1	1358	697	25	5		5	BCHE	3	165548072	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	761094	165548072	32474358	309	109398											
SLC7A14	57709	broad.mit.edu	37	chr3	170218995	170218995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagcactggctccggcCgcagtgccaatcaggtactc	11	15	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:170218995C>T	uc003fgz.2	-	3	760	c.444G>A	c.(442-444)GCG>GCA	p.A148A	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	148						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			TGGCTCCGGCCGCAGTGCCAA	0.562													T	170218995	C	T	170218995	2	4	198	1	0	0	0	0	0	0	0	1	14696	639	23	1		1	SLC7A14	3	170218995	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4670923	170218995	27803435	310	109399											
FNDC3B	64778	broad.mit.edu	37	chr3	172013305	172013305	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatacaagataatttacagGttgtgtatgtttctattgtt	7	3	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:172013305G>A	uc003fhy.2	+	8	1173	c.1001_splice	c.e8+1	p.S334_splice	FNDC3B_uc003fhz.3_Splice_Site_p.S334_splice|FNDC3B_uc003fia.2_Splice_Site_p.S265_splice	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B							endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	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)		TAATTTACAGGTTGTGTATGT	0.393													A	172013305	G	A	172013305	5	1	198	1	0	0	0	0	0	0	1	0	5970	1275	44	4	1028	4	FNDC3B	3	172013305	Splice_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1794310	172013305	26009125	311	109400											
PIK3CA	5290	broad.mit.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	6	0	0	rs121913272		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:178927980T>C	uc003fjk.2	+	8	1415	c.1258T>C	c.(1258-1260)TGT>CGT	p.C420R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		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.C420R(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TAAGGAACACTGTCCATTGGC	0.328	C420R(EFM192A_BREAST)|C420R(OVISE_OVARY)|C420R(HEC151_ENDOMETRIUM)|C420R(CCK81_LARGE_INTESTINE)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178927980	T	C	178927980	3	2	198	1	0	0	0	0	1	0	0	0	11913	1580	55	3	1284	3	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	6914675	178927980	19094450	312	109401											
CCDC39	339829	broad.mit.edu	37	chr3	180337133	180337133	+	Frame_Shift_Del	DEL	T	T	-													tttttgttcttctagttgaaTttttagctcatactcatcac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:180337133delT	uc010hxe.2	-	16	2294	c.2179delA	c.(2179-2181)ATTfs	p.I727fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	727	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTAGTTGAATTTTTAGCTCA	0.289													-	180337133	T	-	180337133	7	5	198	1	0	1	0	1	0	0	0	0	2811	1493	52	0	666	0	CCDC39	3	180337133	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	1409153	180337133	17685297	313	109402											
MCF2L2	23101	broad.mit.edu	37	chr3	183097179	183097179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacgtgatgatgggggCgccatcctcccctcggcctc	14	14	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:183097179C>T	uc003fli.1	-	3	271	c.181G>A	c.(181-183)GCC>ACC	p.A61T	MCF2L2_uc003flj.1_Missense_Mutation_p.A61T|MCF2L2_uc003flp.1_Missense_Mutation_p.A96T	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	61	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	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)			ATGATGGGGGCGCCATCCTCC	0.512													T	183097179	C	T	183097179	3	4	198	1	0	0	0	0	1	0	0	0	9380	768	27	1	3275	1	MCF2L2	3	183097179	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2760046	183097179	14925251	314	109403											
DVL3	1857	broad.mit.edu	37	chr3	183882993	183882993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtttctcggattgagcGggtatggggtctgggaggct	19	5	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:183882993G>A	uc003fms.2	+	6	832	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	DVL3_uc011bqw.1_Missense_Mutation_p.R231Q|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.R63Q	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	231					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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGATTGAGCGGGTATGGGGT	0.597													A	183882993	G	A	183882993	3	1	198	1	0	0	0	0	1	0	0	0	4837	1130	39	1	714	1	DVL3	3	183882993	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	785814	183882993	14139437	315	109404											
EIF4G1	1981	broad.mit.edu	37	chr3	184043121	184043121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaagaagacgtcatcccGcatccgctttatgctgcagg	10	11	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:184043121G>A	uc003fnp.2	+	19	3119	c.2921G>A	c.(2920-2922)CGC>CAC	p.R974H	EIF4G1_uc003fno.1_Missense_Mutation_p.R915H|EIF4G1_uc010hxw.1_Missense_Mutation_p.R810H|EIF4G1_uc003fnt.2_Missense_Mutation_p.R685H|EIF4G1_uc003fnq.2_Missense_Mutation_p.R887H|EIF4G1_uc003fnr.2_Missense_Mutation_p.R810H|EIF4G1_uc010hxx.2_Missense_Mutation_p.R981H|EIF4G1_uc003fns.2_Missense_Mutation_p.R934H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R981H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R975H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R974H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R981H|EIF4G1_uc003fnx.2_Missense_Mutation_p.R779H|EIF4G1_uc003fny.3_Missense_Mutation_p.R778H|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	974	eIF3/EIF4A-binding.			R->A: Abolishes binding to EIF4A; when associated with A-976.	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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTCATCCCGCATCCGCTTT	0.527													A	184043121	G	A	184043121	3	1	198	1	0	0	0	0	1	0	0	0	5036	1087	38	1	2987	1	EIF4G1	3	184043121	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	160128	184043121	13979309	316	109405											
VPS8	23355	broad.mit.edu	37	chr3	184570321	184570321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caactcttgcaatttgcaacGacagcggaggctctgttttt	9	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:184570321G>A	uc003fpb.1	+	10	952	c.781G>A	c.(781-783)GAC>AAC	p.D261N	VPS8_uc010hyd.1_Missense_Mutation_p.D261N	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	263							zinc ion binding			ovary(1)	1	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)			AATTTGCAACGACAGCGGAGG	0.318													A	184570321	G	A	184570321	3	1	198	1	0	0	0	0	1	0	0	0	17215	1058	37	1	821	1	VPS8	3	184570321	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	527200	184570321	13452109	317	109406											
FETUB	26998	broad.mit.edu	37	chr3	186364098	186364098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaatcaccatgtactaaatCccaggccagcagctgttcac	7	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:186364098C>T	uc010hyq.2	+	6	917	c.656C>T	c.(655-657)TCC>TTC	p.S219F	FETUB_uc011brz.1_Missense_Mutation_p.S71F|FETUB_uc003fqn.2_Missense_Mutation_p.S219F|FETUB_uc003fqo.2_Missense_Mutation_p.S114F|FETUB_uc010hyr.2_Missense_Mutation_p.S182F|FETUB_uc010hys.2_Missense_Mutation_p.S71F|FETUB_uc003fqp.3_Missense_Mutation_p.S154F	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	219	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGTACTAAATCCCAGGCCAGC	0.403													T	186364098	C	T	186364098	3	4	198	1	0	0	0	0	1	0	0	0	5821	855	30	4	674	4	FETUB	3	186364098	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1793777	186364098	11658332	318	109407											
ATP13A4	84239	broad.mit.edu	37	chr3	193153486	193153486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatgctgtacagagccAtgtacttaaacatgcaaaag	8	8	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:193153486A>G	uc003ftd.2	-	24	2828	c.2720T>C	c.(2719-2721)ATG>ACG	p.M907T	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	907	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	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)		GTACAGAGCCATGTACTTAAA	0.413													G	193153486	A	G	193153486	3	3	198	1	0	0	0	0	1	0	0	0	1126	217	8	3	898	3	ATP13A4	3	193153486	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	6789388	193153486	4868944	319	109408											
LRRC15	131578	broad.mit.edu	37	chr3	194080146	194080146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgccaattacaatggCggcaatggccagcccgctct	10	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:194080146C>T	uc003ftu.2	-	2	1713	c.1627G>A	c.(1627-1629)GCC>ACC	p.A543T	LRRC15_uc003ftt.2_Missense_Mutation_p.A549T	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	543	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATTACAATGGCGGCAATGGCC	0.592													T	194080146	C	T	194080146	3	4	198	1	0	0	0	0	1	0	0	0	8970	768	27	1	122	1	LRRC15	3	194080146	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	926660	194080146	3942284	320	109409											
ATP13A3	79572	broad.mit.edu	37	chr3	194147932	194147932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccccagatataagaccCgaaggtggtctttgtgccac	12	11	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:194147932C>T	uc003fty.3	-	28	3399	c.2997G>A	c.(2995-2997)TCG>TCA	p.S999S	ATP13A3_uc003ftx.3_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	999					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	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)		ATATAAGACCCGAAGGTGGTC	0.383													T	194147932	C	T	194147932	2	4	198	1	0	0	0	0	0	0	0	1	1125	639	23	1		1	ATP13A3	3	194147932	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	67786	194147932	3874498	321	109410											
C3orf21	152002	broad.mit.edu	37	chr3	194947467	194947467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatctgatgcatggcgaccGagaggaagaagatggagtca	15	6	2	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:194947467G>A	uc003fum.3	-	2	731	c.623C>T	c.(622-624)TCG>TTG	p.S208L	C3orf21_uc011bsw.1_Missense_Mutation_p.S62L	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	208						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		CATGGCGACCGAGAGGAAGAA	0.542													A	194947467	G	A	194947467	3	1	198	1	0	0	0	0	1	0	0	0	2214	1059	37	1	570	1	C3orf21	3	194947467	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	799535	194947467	3074963	322	109411											
MFI2	4241	broad.mit.edu	37	chr3	196748318	196748318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttcacaaaagccacGtcccctgccccttccgccag	7	19	1	0	rs148913417	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:196748318G>A	uc003fxk.3	-	6	782	c.669C>T	c.(667-669)GAC>GAT	p.D223D	MFI2_uc003fxl.3_Silent_p.D223D|MFI2_uc011bua.1_Missense_Mutation_p.T196M	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	223	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		CAAAAGCCACGTCCCCTGCCC	0.672													A	196748318	G	A	196748318	2	1	198	1	0	0	0	0	0	0	0	1	9522	1136	40	1		1	MFI2	3	196748318	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1800851	196748318	1274112	323	109412											
TMEM175	84286	broad.mit.edu	37	chr4	941568	941568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcaggcactggatacacCgggggactgccccccaggca	14	14	0	1	rs148512239	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:941568C>A	uc003gbq.2	+	2	139	c.41C>A	c.(40-42)CCG>CAG	p.P14Q	TMEM175_uc010ibl.1_Missense_Mutation_p.P14Q|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_Intron	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	14						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGGATACACCGGGGGACTGC	0.672													A	941568	C	A	941568	3	1	198	1	0	0	0	0	1	0	0	0	16088	652	23	5	43	5	TMEM175	4	941568	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08		941568	190212708	324	109413											
RNF212	285498	broad.mit.edu	37	chr4	1066733	1066733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgggtgttctgaacgtgtCcagggtgccctcagcctgct	14	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:1066733C>T	uc003gcj.2	-	10	1153	c.823G>A	c.(823-825)GAC>AAC	p.D275N	RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_3'UTR|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	275							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTGAACGTGTCCAGGGTGCCC	0.363											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	1066733	C	T	1066733	3	4	198	1	0	0	0	0	1	0	0	0	13476	855	30	4	74	4	RNF212	4	1066733	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	125165	1066733	190087543	325	109414											
WHSC1	7468	broad.mit.edu	37	chr4	1906092	1906092	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccactccttcacagctaTaccaaacttaaaggtattgt	5	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:1906092T>C	uc003gdz.3	+	3	923	c.747T>C	c.(745-747)TAT>TAC	p.Y249Y	WHSC1_uc003geb.3_Silent_p.Y249Y|WHSC1_uc003gec.3_Silent_p.Y249Y|WHSC1_uc003ged.3_Silent_p.Y249Y|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Silent_p.Y249Y|WHSC1_uc003gdy.1_Silent_p.Y249Y|WHSC1_uc010icd.1_Silent_p.Y249Y|WHSC1_uc003gea.1_Silent_p.Y249Y|WHSC1_uc010ice.1_Silent_p.Y249Y|WHSC1_uc003geg.1_Silent_p.Y249Y|WHSC1_uc003geh.1_Silent_p.Y249Y	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	249	PWWP 1.				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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTCACAGCTATACCAAACTTA	0.418			T	IGH@	MM								C	1906092	T	C	1906092	2	2	198	1	0	0	0	0	0	0	0	1	17359	1413	49	3		3	WHSC1	4	1906092	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	839359	1906092	189248184	326	109415											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306773	2306773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccctttctcctgggggtCggcccaggtactgcctgccc	12	17	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:2306773C>T	uc003gex.1	-	8	1613	c.1294G>A	c.(1294-1296)GAC>AAC	p.D432N	ZFYVE28_uc011bvk.1_Missense_Mutation_p.D362N|ZFYVE28_uc011bvl.1_Missense_Mutation_p.D402N|ZFYVE28_uc003gew.1_Missense_Mutation_p.D318N	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	432					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						TCCTGGGGGTCGGCCCAGGTA	0.667													T	2306773	C	T	2306773	3	4	198	1	0	0	0	0	1	0	0	0	17667	884	31	1	1393	1	ZFYVE28	4	2306773	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	400681	2306773	188847503	327	109416											
STK32B	55351	broad.mit.edu	37	chr4	5399935	5399935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctttgttttcttttacagaGacatcaagccagacaatatc	5	9	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:5399935G>A	uc003gih.1	+	5	500	c.436G>A	c.(436-438)GAC>AAC	p.D146N	STK32B_uc010ida.1_Missense_Mutation_p.D99N	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	146	Protein kinase.	Proton acceptor (By similarity).					ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CTTTTACAGAGACATCAAGCC	0.473													A	5399935	G	A	5399935	3	1	198	1	0	0	0	0	1	0	0	0	15297	956	33	4	454	4	STK32B	4	5399935	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3093162	5399935	185754341	328	109417											
WFS1	7466	broad.mit.edu	37	chr4	6302928	6302928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcaccgccggcctgctatCgctgctgccctccatgccct	10	19	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:6302928C>T	uc003giy.2	+	8	1572	c.1406C>T	c.(1405-1407)TCG>TTG	p.S469L	WFS1_uc003gix.2_Missense_Mutation_p.S469L|WFS1_uc003giz.2_Missense_Mutation_p.S287L	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	469	Helical; (Potential).				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)	2				Colorectal(103;0.0512)		GGCCTGCTATCGCTGCTGCCC	0.642													T	6302928	C	T	6302928	3	4	198	1	0	0	0	0	1	0	0	0	17357	893	31	1	1432	1	WFS1	4	6302928	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	902993	6302928	184851348	329	109418											
CCDC96	257236	broad.mit.edu	37	chr4	7043252	7043252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgtctcttcctagggCggcctgggcctcgatttctg	13	12	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:7043252C>T	uc003gjv.2	-	1	1477	c.1414G>A	c.(1414-1416)GCC>ACC	p.A472T	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	472											0						CTTCCTAGGGCGGCCTGGGCC	0.547													T	7043252	C	T	7043252	3	4	198	1	0	0	0	0	1	0	0	0	2874	768	27	1	257	1	CCDC96	4	7043252	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	740324	7043252	184111024	330	109419											
SLC2A9	56606	broad.mit.edu	37	chr4	9943581	9943581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctccaagagcaggtagCgtgggctgtccgggagaaag	16	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:9943581C>T	uc003gmc.2	-	6	831	c.770G>A	c.(769-771)CGC>CAC	p.R257H	SLC2A9_uc003gmd.2_Missense_Mutation_p.R228H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	257	Cytoplasmic (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						GAGCAGGTAGCGTGGGCTGTC	0.577													T	9943581	C	T	9943581	3	4	198	1	0	0	0	0	1	0	0	0	14552	768	27	1	880	1	SLC2A9	4	9943581	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2900329	9943581	181210695	331	109420											
PROM1	8842	broad.mit.edu	37	chr4	16026930	16026930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaaaccatagaagatgCcaatgctgcaggaaaaggca	9	10	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:16026930C>T	uc003goo.2	-	5	727	c.515G>A	c.(514-516)GGC>GAC	p.G172D	PROM1_uc003gor.2_Missense_Mutation_p.G172D|PROM1_uc003gos.2_Missense_Mutation_p.G163D|PROM1_uc003got.2_Missense_Mutation_p.G172D|PROM1_uc003gou.2_Missense_Mutation_p.G163D|PROM1_uc003gop.2_Missense_Mutation_p.G163D|PROM1_uc003goq.3_Missense_Mutation_p.G163D|PROM1_uc010iec.1_Missense_Mutation_p.G50D	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	172	Helical; (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						ATAGAAGATGCCAATGCTGCA	0.493													T	16026930	C	T	16026930	3	4	198	1	0	0	0	0	1	0	0	0	12555	739	26	2	2170	2	PROM1	4	16026930	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6083349	16026930	175127346	332	109421											
NCAPG	64151	broad.mit.edu	37	chr4	17838932	17838932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcgacattgcctaggcGtgttcttccccgtgtttgct	9	12	1	0	rs111401034		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:17838932G>A	uc003gpp.2	+	15	2436	c.2260G>A	c.(2260-2262)GTG>ATG	p.V754M	NCAPG_uc011bxj.1_Missense_Mutation_p.V263M	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	754					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		TTGCCTAGGCGTGTTCTTCCC	0.413													A	17838932	G	A	17838932	3	1	198	1	0	0	0	0	1	0	0	0	10207	1145	40	1	2318	1	NCAPG	4	17838932	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1812002	17838932	173315344	333	109422											
PACRGL	133015	broad.mit.edu	37	chr4	20715115	20715115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctagttcagctaagtgtcGttgttggtccttctctaaac	8	10	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:20715115G>A	uc010iek.2	+	7	953	c.562G>A	c.(562-564)GTT>ATT	p.V188I	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.V236I|PACRGL_uc003gpz.2_Missense_Mutation_p.V188I|PACRGL_uc011bxm.1_Missense_Mutation_p.V135I|PACRGL_uc003gqa.2_Missense_Mutation_p.V90I|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.V188I|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.V90I|PACRGL_uc003gpy.2_Missense_Mutation_p.V135I	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	188							binding				0						GCTAAGTGTCGTTGTTGGTCC	0.423													A	20715115	G	A	20715115	3	1	198	1	0	0	0	0	1	0	0	0	11371	1145	40	1	584	1	PACRGL	4	20715115	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2876183	20715115	170439161	334	109423											
ARAP2	116984	broad.mit.edu	37	chr4	36231038	36231038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagactcatggaaatgtaagAgatactgctccaaattaatg	8	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:36231038A>C	uc003gsq.1	-	2	409	c.71T>G	c.(70-72)CTC>CGC	p.L24R	ARAP2_uc003gsr.1_Missense_Mutation_p.L24R	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	24	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GAAATGTAAGAGATACTGCTC	0.393													C	36231038	A	C	36231038	3	2	198	1	0	0	0	0	1	0	0	0	839	304	11	5	5171	5	ARAP2	4	36231038	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	15515923	36231038	154923238	335	109424											
TLR10	81793	broad.mit.edu	37	chr4	38775306	38775306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcactgtatgaaataaatgCgtggaatcggacatttctct	8	7	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:38775306C>T	uc003gti.2	-	2	2285	c.1906G>A	c.(1906-1908)GCA>ACA	p.A636T	TLR10_uc003gtj.2_Missense_Mutation_p.A636T|TLR10_uc003gtk.2_Missense_Mutation_p.A636T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	636	TIR.|Cytoplasmic (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GAAATAAATGCGTGGAATCGG	0.418													T	38775306	C	T	38775306	3	4	198	1	0	0	0	0	1	0	0	0	15947	768	27	1	533	1	TLR10	4	38775306	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2544268	38775306	152378970	336	109425											
KLHL5	51088	broad.mit.edu	37	chr4	39109197	39109197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctcataggtgtggctGtactggaaggtcccatgtat	12	9	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:39109197G>A	uc003gts.2	+	8	1747	c.1672G>A	c.(1672-1674)GTA>ATA	p.V558I	KLHL5_uc003gtp.2_Missense_Mutation_p.V512I|KLHL5_uc003gtq.2_Missense_Mutation_p.V371I|KLHL5_uc003gtr.1_Missense_Mutation_p.V558I|KLHL5_uc003gtt.2_Missense_Mutation_p.V497I	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	558	Kelch 2.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1						AGGTGTGGCTGTACTGGAAGG	0.438													A	39109197	G	A	39109197	3	1	198	1	0	0	0	0	1	0	0	0	8392	1377	48	4	1702	4	KLHL5	4	39109197	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	333891	39109197	152045079	337	109426											
RFC1	5981	broad.mit.edu	37	chr4	39310612	39310612	+	Frame_Shift_Del	DEL	T	T	-													tttttctttttccttggacaTttttttggggtgttctctcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:39310611_39310611AT>A	uc003gty.2	-	12	1670	c.1530_1530AT>T	c.(1528-1530)aatfs	p.N510fs	RFC1_uc003gtx.2_Frame_Shift_Del_p.N510fs	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	510					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.K509T(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCCTTGGACATTTTTTTGGG	0.348													-	39310612	T	-	39310612	7	5	198	1	0	1	0	1	0	0	0	0	13244	1493	52	0	1966	0	RFC1	4	39310612	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	201415	39310612	151843664	338	109427											
NSUN7	79730	broad.mit.edu	37	chr4	40800843	40800843	+	Frame_Shift_Del	DEL	T	T	-													tgtttactgcacatgttcagTttttccagaagaaaatgaag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:40800842_40800842GT>G	uc003gvj.4	+	9	1816	c.1321_1321GT>G	c.(1321-1323)gttfs	p.V441fs	NSUN7_uc003gvi.4_Frame_Shift_Del_p.V441fs	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CACATGTTCAGTTTTTCCAGA	0.343													-	40800843	T	-	40800843	7	5	198	1	0	1	0	1	0	0	0	0	10683	1725	60	0	1356	0	NSUN7	4	40800843	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	1490231	40800843	150353433	339	109428											
KCTD8	386617	broad.mit.edu	37	chr4	44450036	44450036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctgctaccctgcgagaCgttgtcctccaggtcgctct	11	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:44450036C>T	uc003gwu.2	-	1	789	c.505G>A	c.(505-507)GTC>ATC	p.V169I		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	169						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						ccCTGCGAGACGTTGTCCTCC	0.333										HNSCC(17;0.042)			T	44450036	C	T	44450036	3	4	198	1	0	0	0	0	1	0	0	0	8115	536	19	1	924	1	KCTD8	4	44450036	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3649193	44450036	146704240	340	109429											
COMMD8	54951	broad.mit.edu	37	chr4	47455198	47455198	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttaaaagtggcattcGtaatgcagcaatcttgtcac	9	9	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:47455198G>A	uc003gxi.2	-	4	417	c.409C>T	c.(409-411)CGA>TGA	p.R137*		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	COMM domain containing 8	137	COMM.						protein binding				0						AGTGGCATTCGTAATGCAGCA	0.323													A	47455198	G	A	47455198	4	1	198	1	0	0	0	0	0	1	0	0	3722	1153	40	1	150	1	COMMD8	4	47455198	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3005162	47455198	143699078	341	109430											
CNGA1	1259	broad.mit.edu	37	chr4	47942795	47942795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctgtccttgttcgtaCaaacatatcgattaaataga	5	8	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:47942795C>T	uc003gxt.3	-	10	915	c.649G>A	c.(649-651)GTA>ATA	p.V217I	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V286I	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	217	Helical; Name=H2; (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						CTTGTTCGTACAAACATATCG	0.289													T	47942795	C	T	47942795	3	4	198	1	0	0	0	0	1	0	0	0	3596	478	17	4	1431	4	CNGA1	4	47942795	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	487597	47942795	143211481	342	109431											
TXK	7294	broad.mit.edu	37	chr4	48096171	48096171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcagccacataccactgtCctgagtcattcttttttatc	4	12	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:48096171C>T	uc003gxx.3	-	8	718	c.632G>A	c.(631-633)GGA>GAA	p.G211E	TXK_uc003gxy.1_Missense_Mutation_p.G211E	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	211	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						ATACCACTGTCCTGAGTCATT	0.413													T	48096171	C	T	48096171	3	4	198	1	0	0	0	0	1	0	0	0	16783	855	30	4	983	4	TXK	4	48096171	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	153376	48096171	143058105	343	109432											
FRYL	285527	broad.mit.edu	37	chr4	48595988	48595988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagtagattttccaacacTgagaagatcaaatattattt	5	5	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:48595988T>C	uc003gyh.1	-	16	1899	c.1294A>G	c.(1294-1296)AGT>GGT	p.S432G	FRYL_uc003gyk.2_Missense_Mutation_p.S432G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTTCCAACACTGAGAAGATCA	0.184													C	48595988	T	C	48595988	3	2	198	1	0	0	0	0	1	0	0	0	6064	1580	55	3	7943	3	FRYL	4	48595988	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	499817	48595988	142558288	344	109433											
FRYL	285527	broad.mit.edu	37	chr4	48621329	48621329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaactaaacaaaaaatgaAgtctactgctaagtccctcc	4	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:48621329A>G	uc003gyh.1	-	7	978	c.373T>C	c.(373-375)TTC>CTC	p.F125L	FRYL_uc003gyk.2_Missense_Mutation_p.F125L|FRYL_uc003gyl.1_Missense_Mutation_p.F176L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CAAAAAATGAAGTCTACTGCT	0.348													G	48621329	A	G	48621329	3	3	198	1	0	0	0	0	1	0	0	0	6064	72	3	3	8900	3	FRYL	4	48621329	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	25341	48621329	142532947	345	109434											
KIT	3815	broad.mit.edu	37	chr4	55573423	55573423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgataaatgggaagattAtcccaagtctgagaatgaaa	9	6	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:55573423A>G	uc010igr.2	+	6	1172	c.1085A>G	c.(1084-1086)TAT>TGT	p.Y362C	KIT_uc010igs.2_Missense_Mutation_p.Y362C	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	362	Ig-like C2-type 4.|Extracellular (Potential).				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			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	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)	TGGGAAGATTATCCCAAGTCT	0.398		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				G	55573423	A	G	55573423	3	3	198	1	0	0	0	0	1	0	0	0	8329	449	16	3	1107	3	KIT	4	55573423	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	6952094	55573423	135580853	346	109435											
CEP135	9662	broad.mit.edu	37	chr4	56883935	56883935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagtattaaatgacttgtCatctcttagagaactttgca	6	7	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:56883935C>T	uc003hbi.2	+	22	3158	c.2924C>T	c.(2923-2925)TCA>TTA	p.S975L	CEP135_uc003hbj.2_Missense_Mutation_p.S681L	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	975	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					AATGACTTGTCATCTCTTAGA	0.358													T	56883935	C	T	56883935	3	4	198	1	0	0	0	0	1	0	0	0	3247	838	29	4	3006	4	CEP135	4	56883935	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1310512	56883935	134270341	347	109436											
IGFBP7	3490	broad.mit.edu	37	chr4	57907077	57907077	+	Frame_Shift_Del	DEL	G	G	-													gtgacattccagatgtccttGgggggcgtcactatggaagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:57907077delG	uc003hcn.2	-	2	520	c.498delC	c.(496-498)CCCfs	p.P166fs	IGFBP7_uc011cag.1_Frame_Shift_Del_p.P166fs	NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	166	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			lung(2)|central_nervous_system(1)	3	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGTCCTTGGGGGGCGTCA	0.507													-	57907077	G	-	57907077	7	5	198	1	0	1	0	1	0	0	0	0	7584	1335	47	0	366	0	IGFBP7	4	57907077	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1023142	57907077	133247199	348	109437											
LPHN3	23284	broad.mit.edu	37	chr4	62862015	62862015	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttcattgcagatgttgGctccgacttgacacctactt	9	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:62862015G>A	uc010ihh.2	+	17	3212	c.3039G>A	c.(3037-3039)TGG>TGA	p.W1013*	LPHN3_uc003hcq.3_Nonsense_Mutation_p.W1013*|LPHN3_uc003hct.2_Nonsense_Mutation_p.W406*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1000	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GCAGATGTTGGCTCCGACTTG	0.408													A	62862015	G	A	62862015	4	1	198	1	0	0	0	0	0	1	0	0	8917	1212	42	2	3105	2	LPHN3	4	62862015	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4954938	62862015	128292261	349	109438											
CENPC1	1060	broad.mit.edu	37	chr4	68355753	68355753	+	Frame_Shift_Del	DEL	A	A	-													taatatcaatttcccagtagAaaaaaagggtgtatccaatg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:68355752_68355752GA>G	uc003hdd.1	-	16	2786	c.2603_2603TC>C	c.(2602-2604)tctfs	p.S868fs	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihl.3_Frame_Shift_Del_p.S75fs	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	868					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	p.S868fs*28(1)		NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						TTTCCCAGTAGAAAAAAAGGG	0.343													-	68355753	A	-	68355753	7	5	198	1	0	1	0	1	0	0	0	0	3229	246	9	0	241	0	CENPC1	4	68355753	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	5493738	68355753	122798523	350	109439											
STAP1	26228	broad.mit.edu	37	chr4	68442967	68442967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagaggcttcattcttaCagtaacagaggtaggaagct	12	6	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:68442967C>T	uc003hde.3	+	4	435	c.353C>T	c.(352-354)ACA>ATA	p.T118I	STAP1_uc003hdf.2_Missense_Mutation_p.T118I	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	118	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						TTCATTCTTACAGTAACAGAG	0.269													T	68442967	C	T	68442967	3	4	198	1	0	0	0	0	1	0	0	0	15251	478	17	4	367	4	STAP1	4	68442967	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	87214	68442967	122711309	351	109440											
UGT2A3	79799	broad.mit.edu	37	chr4	69817144	69817144	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttatttcaacaaaaaaaTcatttaattttataactgat	1	6	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:69817144T>A	uc003hef.2	-	1	366	c.335A>T	c.(334-336)GAT>GTT	p.D112V	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	112	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						AACAAAAAAATCATTTAATTT	0.348													A	69817144	T	A	69817144	3	1	198	1	0	0	0	0	1	0	0	0	16952	1435	50	5	1272	5	UGT2A3	4	69817144	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1374177	69817144	121337132	352	109441											
UGT2B7	7364	broad.mit.edu	37	chr4	69973972	69973972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaggggagcagctgttagAgtggacttcaacacaatgtc	13	9	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:69973972A>G	uc003heg.3	+	5	1288	c.1242A>G	c.(1240-1242)AGA>AGG	p.R414R	UGT2B7_uc010ihq.2_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	414					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						CAGCTGTTAGAGTGGACTTCA	0.443													G	69973972	A	G	69973972	2	3	198	1	0	0	0	0	0	0	0	1	16959	301	11	3		3	UGT2B7	4	69973972	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	156828	69973972	121180304	353	109442											
SDAD1	55153	broad.mit.edu	37	chr4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-													acacctctggttttttcttcTttttttgtttctgaaaggga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:76891520_76891520CT>C	uc003hje.4	-	9	944	c.825_825AG>G	c.(823-825)aagfs	p.K275fs	SDAD1_uc003hjf.4_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.2_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	275					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)			GTTTTTTCTTCTTTTTTTGTT	0.378													-	76891521	T	-	76891521	7	5	198	1	0	1	0	1	0	0	0	0	13950	1609	56	0	1291	0	SDAD1	4	76891521	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	6917549	76891521	114262755	354	109443											
BMP2K	55589	broad.mit.edu	37	chr4	79754838	79754838	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatcttaatggaatattgtCgaggtaagtatttttttgca	8	3	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:79754838C>T	uc003hlk.2	+	3	566	c.400C>T	c.(400-402)CGA>TGA	p.R134*	BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Nonsense_Mutation_p.R134*	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	134	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						GGAATATTGTCGAGGTAAGTA	0.333													T	79754838	C	T	79754838	4	4	198	1	0	0	0	0	0	1	0	0	1460	876	31	1	410	1	BMP2K	4	79754838	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2863317	79754838	111399438	355	109444											
BMP2K	55589	broad.mit.edu	37	chr4	79791998	79791998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggacctcctcagcagccGccacagcagcatagagtact	10	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:79791998G>A	uc003hlk.2	+	11	1459	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Silent_p.P431P|BMP2K_uc003hll.2_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	431	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						CTCAGCAGCCGCCACAGCAGC	0.438													A	79791998	G	A	79791998	2	1	198	1	0	0	0	0	0	0	0	1	1460	1074	38	1		1	BMP2K	4	79791998	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	37160	79791998	111362278	356	109445											
FGF5	2250	broad.mit.edu	37	chr4	81196160	81196160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaaaggaaaactccaTgcaagtgtaagtagaaccac	7	8	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:81196160T>C	uc003hmd.2	+	2	690	c.453T>C	c.(451-453)CAT>CAC	p.H151H	FGF5_uc003hme.2_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	151					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			ovary(1)|breast(1)	2						GAAAACTCCATGCAAGTGTAA	0.308													C	81196160	T	C	81196160	2	2	198	1	0	0	0	0	0	0	0	1	5855	1461	51	3		3	FGF5	4	81196160	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1404162	81196160	109958116	357	109446											
PRKG2	5593	broad.mit.edu	37	chr4	82090857	82090857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcatctctagcttgggCtgtcctcctcattatattct	6	11	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:82090857C>A	uc003hmh.2	-	4	822	c.808G>T	c.(808-810)GCC>TCC	p.A270S	PRKG2_uc011cch.1_Missense_Mutation_p.A270S	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	270	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						CTAGCTTGGGCTGTCCTCCTC	0.363													A	82090857	C	A	82090857	3	1	198	1	0	0	0	0	1	0	0	0	12523	797	28	5	1540	5	PRKG2	4	82090857	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	894697	82090857	109063419	358	109447											
SPARCL1	8404	broad.mit.edu	37	chr4	88416218	88416218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaactggggattgcagtgTtgtcaggtgctaccgtttca	12	7	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:88416218T>C	uc010ikm.2	-	4	688	c.116A>G	c.(115-117)AAC>AGC	p.N39S	SPARCL1_uc011cdc.1_Intron|SPARCL1_uc003hqs.3_Missense_Mutation_p.N39S|SPARCL1_uc011cdd.1_5'UTR|SPARCL1_uc003hqt.2_Missense_Mutation_p.N39S	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	39	O-glycosylated at two sites.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GATTGCAGTGTTGTCAGGTGC	0.373													C	88416218	T	C	88416218	3	2	198	1	0	0	0	0	1	0	0	0	14995	1725	60	3	1914	3	SPARCL1	4	88416218	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	6325361	88416218	102738058	359	109448											
HERC5	51191	broad.mit.edu	37	chr4	89425506	89425506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatcaaattattccacccCgaagaactgaaggatgtgat	7	8	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:89425506C>T	uc003hrt.2	+	21	2859	c.2706C>T	c.(2704-2706)CCC>CCT	p.P902P	HERC5_uc011cdm.1_Silent_p.P540P	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	902	HECT.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TATTCCACCCCGAAGAACTGA	0.333													T	89425506	C	T	89425506	2	4	198	1	0	0	0	0	0	0	0	1	7061	639	23	1		1	HERC5	4	89425506	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1009288	89425506	101728770	360	109449											
CYP2U1	113612	broad.mit.edu	37	chr4	108871407	108871407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcatttttagggaagcGggtgtgtatgggagaacaac	14	5	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:108871407G>A	uc003hyp.2	+	5	1546	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q	CYP2U1_uc011cfi.1_Missense_Mutation_p.R279Q	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	488					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TTAGGGAAGCGGGTGTGTATG	0.343													A	108871407	G	A	108871407	3	1	198	1	0	0	0	0	1	0	0	0	4175	1116	39	1	1481	1	CYP2U1	4	108871407	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	19445901	108871407	82282869	361	109450											
PLA2G12A	81579	broad.mit.edu	37	chr4	110635582	110635582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcatgcggctcgttggCtgtccagatatggtttacaa	11	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:110635582C>T	uc003hzp.2	-	4	798	c.521G>A	c.(520-522)AGC>AAC	p.S174N	PLA2G12A_uc010img.2_Missense_Mutation_p.S172N	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA precursor	174					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		GGCTCGTTGGCTGTCCAGATA	0.408													T	110635582	C	T	110635582	3	4	198	1	0	0	0	0	1	0	0	0	11990	797	28	2	52	2	PLA2G12A	4	110635582	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1764175	110635582	80518694	362	109451											
NDST3	9348	broad.mit.edu	37	chr4	119163208	119163208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttagttgctaattattgAtgggcaacaactaagaactg	8	5	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:119163208A>G	uc003ibx.2	+	12	2706	c.2303A>G	c.(2302-2304)GAT>GGT	p.D768G		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	768	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CTAATTATTGATGGGCAACAA	0.313													G	119163208	A	G	119163208	3	3	198	1	0	0	0	0	1	0	0	0	10257	333	12	3	2345	3	NDST3	4	119163208	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	8527626	119163208	71991068	363	109452											
KIAA1109	84162	broad.mit.edu	37	chr4	123165029	123165029	+	Frame_Shift_Del	DEL	A	A	-													tacgccgtatactccattggAaaaaaaactcgctgataaca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:123165028_123165028GA>G	uc003ieh.3	+	28	4807	c.4762_4762GA>G	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Del_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					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						TACTCCATTGGAAAAAAAACT	0.383													-	123165029	A	-	123165029	7	5	198	1	0	1	0	1	0	0	0	0	8208	246	9	0	4877	0	KIAA1109	4	123165029	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	4001821	123165029	67989247	364	109453											
SLC25A31	83447	broad.mit.edu	37	chr4	128651810	128651810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctgtgtccaagacagCggtggcgcccatcgagcggg	17	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:128651810C>T	uc003ifl.2	+	1	256	c.110C>T	c.(109-111)GCG>GTG	p.A37V		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	37	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						TCCAAGACAGCGGTGGCGCCC	0.637													T	128651810	C	T	128651810	3	4	198	1	0	0	0	0	1	0	0	0	14495	768	27	1	112	1	SLC25A31	4	128651810	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5486781	128651810	62502466	365	109454											
HSPA4L	22824	broad.mit.edu	37	chr4	128751951	128751951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaatagtagcaaagtcAaaggtaagaagtttatgaaa	9	3	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:128751951A>G	uc003ifm.2	+	18	2578	c.2325A>G	c.(2323-2325)TCA>TCG	p.S775S	HSPA4L_uc011cgr.1_Silent_p.S742S	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	775					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TAGCAAAGTCAAAGGTAAGAA	0.328													G	128751951	A	G	128751951	2	3	198	1	0	0	0	0	0	0	0	1	7413	117	5	3		3	HSPA4L	4	128751951	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	100141	128751951	62402325	366	109455											
LARP1B	55132	broad.mit.edu	37	chr4	129121797	129121797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatttagacaacttgcttgGgaagatgcaaaagaaaatta	9	4	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:129121797G>T	uc003iga.2	+	17	2417	c.2286G>T	c.(2284-2286)TGG>TGT	p.W762C	LARP1B_uc003igc.2_Missense_Mutation_p.W181C|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_RNA|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	762							RNA binding				0						AACTTGCTTGGGAAGATGCAA	0.343													T	129121797	G	T	129121797	3	4	198	1	0	0	0	0	1	0	0	0	8629	1241	43	5	2478	5	LARP1B	4	129121797	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	369846	129121797	62032479	367	109456											
ZNF330	27309	broad.mit.edu	37	chr4	142150795	142150795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagtacacatgcttgtgCctgccctcttaccgatgctg	8	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:142150795C>T	uc003iiq.3	+	6	582	c.362C>T	c.(361-363)GCC>GTC	p.A121V	ZNF330_uc011chl.1_Missense_Mutation_p.A61V	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	121						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)					CATGCTTGTGCCTGCCCTCTT	0.448													T	142150795	C	T	142150795	3	4	198	1	0	0	0	0	1	0	0	0	17845	739	26	2	380	2	ZNF330	4	142150795	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	13028998	142150795	49003481	368	109457											
HHIP	64399	broad.mit.edu	37	chr4	145567903	145567904	+	Frame_Shift_Ins	INS	-	-	G													tgaaggagatgctaagtttgINSgggaaagaaacgaagggagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:145567902_145567903T>TG	uc003ijs.2	+	0	755_756	c.75_76T>TG	c.(73-78)tttgggfs	p.F25fs	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Frame_Shift_Ins_p.F25fs	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	25						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)		ATGCTAAGTTTGGGGAAAGAAA	0.574													G	145567904	-	G	145567903	7	5	198	1	0	1	1	0	0	0	0	0	7092	1348	47	0	78	0	HHIP	4	145567903	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	3417108	145567903	45586373	369	109458											
SMAD1	4086	broad.mit.edu	37	chr4	146436032	146436032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctcatgtcatttactgCcgtgtgtggcgctggcccga	12	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:146436032C>T	uc003ikc.2	+	2	683	c.267C>T	c.(265-267)TGC>TGT	p.C89C	SMAD1_uc003ikd.2_Silent_p.C89C|SMAD1_uc010iov.2_Silent_p.C89C|SMAD1_uc011cic.1_Silent_p.C89C	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	89	MH1.				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			ovary(1)	1	all_hematologic(180;0.151)					TCATTTACTGCCGTGTGTGGC	0.557													T	146436032	C	T	146436032	2	4	198	1	0	0	0	0	0	0	0	1	14757	747	26	2		2	SMAD1	4	146436032	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	868129	146436032	44718244	370	109459											
POU4F2	5458	broad.mit.edu	37	chr4	147561827	147561827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaagcctactttgccaTtcagcctcggccctcctctg	8	17	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:147561827T>G	uc003ikv.2	+	2	1345	c.1097T>G	c.(1096-1098)ATT>AGT	p.I366S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	366	Homeobox.				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			breast(1)	1	all_hematologic(180;0.151)					TACTTTGCCATTCAGCCTCGG	0.582													G	147561827	T	G	147561827	3	3	198	1	0	0	0	0	1	0	0	0	12279	1493	52	5	1103	5	POU4F2	4	147561827	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1125795	147561827	43592449	371	109460											
PRMT10	90826	broad.mit.edu	37	chr4	148589799	148589800	+	Splice_Site	INS	-	-	A													gcactttcacctttggtctaINSaaaaaaataacaataagaat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:148589798_148589799T>TA	uc003ilc.3	-	6	989	c.847_splice	c.e6-1	p.T283_splice	PRMT10_uc003ild.3_Splice_Site_p.T170_splice	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	283						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ACCTTTGGTCTAAAAAAAATAA	0.292													A	148589800	-	A	148589799	8	5	198	1	0	1	1	0	0	0	1	0	12536	377	13	0		0	PRMT10	4	148589799	Splice_Site	INS	-	TCGA-CG-5733-01A-11D-1600-08	1027972	148589799	42564477	372	109461											
PRSS48	345062	broad.mit.edu	37	chr4	152201017	152201018	+	Frame_Shift_Ins	INS	-	-	GGCAG													gctgcagggcgctggccttgINSgcaggtcagcctacactttg					rs148861921	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:152201016_152201017T>TGGCAG	uc011cif.2	+	1	121_122	c.121_122T>TGGCAG	c.(121-123)tggfs	p.W41fs	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	41	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCGCTGGCCTTGGCAGGTCAGC	0.525													GGCAG	152201018	-	GGCAG	152201017	7	5	198	1	0	1	1	0	0	0	0	0	12630	1357	47	0	128	0	PRSS48	4	152201017	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	3611218	152201017	38953259	373	109462											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia 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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	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								A	153249385	G	A	153249385	3	1	198	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1048368	153249385	37904891	374	109463											
DCHS2	54798	broad.mit.edu	37	chr4	155254496	155254496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcaggctggggcgctgCcgagctgcgcctgcaccgtg	17	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:155254496C>T	uc003inw.2	-	9	1367	c.1367G>A	c.(1366-1368)GGC>GAC	p.G456D	DCHS2_uc003inx.2_Missense_Mutation_p.G955D	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	456	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGGCGCTGCCGAGCTGCGC	0.597													T	155254496	C	T	155254496	3	4	198	1	0	0	0	0	1	0	0	0	4288	739	26	2	7547	2	DCHS2	4	155254496	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2005111	155254496	35899780	375	109464											
TLL1	7092	broad.mit.edu	37	chr4	166795140	166795140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggggagctatgggtctgCgctggcctcgattatgatta	14	8	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:166795140C>T	uc003irh.1	+	1	731	c.84C>T	c.(82-84)TGC>TGT	p.C28C	TLL1_uc011cjn.1_Silent_p.C28C|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	28					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATGGGTCTGCGCTGGCCTCG	0.542													T	166795140	C	T	166795140	2	4	198	1	0	0	0	0	0	0	0	1	15942	776	27	1		1	TLL1	4	166795140	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	11540644	166795140	24359136	376	109465											
KIAA1430	57587	broad.mit.edu	37	chr4	186112159	186112159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatttcccttctcagtAagataattttctgttgtttg	5	8	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:186112159A>G	uc003ixf.3	-	2	339	c.192T>C	c.(190-192)CTT>CTC	p.L64L	KIAA1430_uc003ixg.2_Silent_p.L64L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	64											0		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)		CCTTCTCAGTAAGATAATTTT	0.358													G	186112159	A	G	186112159	2	3	198	1	0	0	0	0	0	0	0	1	8232	349	13	3		3	KIAA1430	4	186112159	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	19317019	186112159	5042117	377	109466											
SNX25	83891	broad.mit.edu	37	chr4	186267705	186267706	+	Frame_Shift_Ins	INS	-	-	A													cacagtgcgtcccttctttaINSaaaaaagtccagttgccttc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:186267704_186267705T>TA	uc003ixh.3	+	12	1898_1899	c.1709_1710T>TA	c.(1708-1710)ttafs	p.L570fs	SNX25_uc010ish.3_Frame_Shift_Ins_p.L341fs|SNX25_uc003ixi.3_Frame_Shift_Ins_p.L74fs	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	570	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.V573fs*7(1)		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)		GTCCCTTCTTTAAAAAAAGTCC	0.292													A	186267706	-	A	186267705	7	5	198	1	0	1	1	0	0	0	0	0	14896	359	13	0	1756	0	SNX25	4	186267705	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	155546	186267705	4886571	378	109467											
SDHA	6389	broad.mit.edu	37	chr5	251215	251215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctgaagacgttcgacCggggtgagcagacagtgggc	16	10	0	4	rs9809219		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:251215C>T	uc003jao.3	+	12	1775	c.1660C>T	c.(1660-1662)CGG>TGG	p.R554W	SDHA_uc011clv.1_Missense_Mutation_p.R554W|SDHA_uc011clw.1_Missense_Mutation_p.R506W|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Missense_Mutation_p.R329W|SDHA_uc003jar.3_Missense_Mutation_p.R148W	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	554			R -> W (in LS).		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				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GACGTTCGACCGGGGTGAGCA	0.557									Familial_Paragangliomas				T	251215	C	T	251215	3	4	198	1	0	0	0	0	1	0	0	0	13963	643	23	1	1706	1	SDHA	5	251215	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08		251215	180664045	379	109468											
AHRR	57491	broad.mit.edu	37	chr5	353927	353927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagttggaccacctggccAgcctgctgccgttcccgcct	11	18	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:353927A>G	uc003jav.2	+	3	201	c.157A>G	c.(157-159)AGC>GGC	p.S53G	AHRR_uc003jaw.2_Missense_Mutation_p.S49G|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.S49G	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	53	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCACCTGGCCAGCCTGCTGCC	0.632													G	353927	A	G	353927	3	3	198	1	0	0	0	0	1	0	0	0	417	188	7	3	167	3	AHRR	5	353927	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	102712	353927	180561333	380	109469											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239278	5239278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagagagttggatgtgaCaatgtccttggatctgatgc	12	8	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:5239278C>T	uc003jdl.2	+	15	2307	c.2169C>T	c.(2167-2169)GAC>GAT	p.D723D	ADAMTS16_uc003jdk.1_Silent_p.D723D|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	723	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TTGGATGTGACAATGTCCTTG	0.493													T	5239278	C	T	5239278	2	4	198	1	0	0	0	0	0	0	0	1	261	477	17	4		4	ADAMTS16	5	5239278	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4885351	5239278	175675982	381	109470											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303565	5303565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccacctgcatggagcGccgggccctgggcagaggta	16	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:5303565G>A	uc003jdl.2	+	19	3112	c.2974G>A	c.(2974-2976)GCC>ACC	p.A992T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A992T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	992	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGCATGGAGCGCCGGGCCCTG	0.662													A	5303565	G	A	5303565	3	1	198	1	0	0	0	0	1	0	0	0	261	1087	38	1	3048	1	ADAMTS16	5	5303565	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	64287	5303565	175611695	382	109471											
SRD5A1	6715	broad.mit.edu	37	chr5	6652020	6652020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttggcgtgtacaatggCgattatgttctgtacctgta	11	7	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:6652020C>T	uc003jdw.2	+	2	549	c.359C>T	c.(358-360)GCG>GTG	p.A120V	SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Intron	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	120	Helical; (Potential).				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	TGTACAATGGCGATTATGTTC	0.418													T	6652020	C	T	6652020	3	4	198	1	0	0	0	0	1	0	0	0	15137	768	27	1	365	1	SRD5A1	5	6652020	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1348455	6652020	174263240	383	109472											
FAM173B	134145	broad.mit.edu	37	chr5	10227606	10227606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtacagggcctcttttcacGgcctctaaaagtgcttgcat	9	11	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:10227606G>T	uc003jeo.2	-	5	678	c.649C>A	c.(649-651)CGT>AGT	p.R217S	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R200S	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	217						integral to membrane				kidney(1)|central_nervous_system(1)	2						CTCTTTTCACGGCCTCTAAAA	0.488													T	10227606	G	T	10227606	3	4	198	1	0	0	0	0	1	0	0	0	5494	1116	39	5	56	5	FAM173B	5	10227606	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3575586	10227606	170687654	384	109473											
DNAH5	1767	broad.mit.edu	37	chr5	13913929	13913929	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacgtcttgagggttgtaaAgatgtctattatcttggcaa	10	5	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:13913929A>C	uc003jfd.2	-	11	1501	c.1459T>G	c.(1459-1461)TTT>GTT	p.F487V	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	487	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AGGGTTGTAAAGATGTCTATT	0.358									Kartagener_syndrome				C	13913929	A	C	13913929	3	2	198	1	0	0	0	0	1	0	0	0	4604	72	3	5	12691	5	DNAH5	5	13913929	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3686323	13913929	167001331	385	109474											
CDH9	1007	broad.mit.edu	37	chr5	26906221	26906221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcatgtctggtaatgCagtttttattatgccttttg	8	7	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:26906221C>T	uc003jgs.1	-	5	827	c.658G>A	c.(658-660)GCA>ACA	p.A220T	CDH9_uc010iug.2_Missense_Mutation_p.A220T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	220	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TCTGGTAATGCAGTTTTTATT	0.393													T	26906221	C	T	26906221	3	4	198	1	0	0	0	0	1	0	0	0	3117	710	25	2	1743	2	CDH9	5	26906221	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	12992292	26906221	154009039	386	109475											
PDZD2	23037	broad.mit.edu	37	chr5	31983467	31983467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctccaggcctcctgccaAcaaggcccctgaagaatcca	7	17	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:31983467A>G	uc003jhl.2	+	3	1071	c.683A>G	c.(682-684)AAC>AGC	p.N228S	PDZD2_uc003jhm.2_Missense_Mutation_p.N228S|PDZD2_uc011cnx.1_Missense_Mutation_p.N54S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	228					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CCTCCTGCCAACAAGGCCCCT	0.577													G	31983467	A	G	31983467	3	3	198	1	0	0	0	0	1	0	0	0	11701	43	2	3	689	3	PDZD2	5	31983467	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	5077246	31983467	148931793	387	109476											
PDZD2	23037	broad.mit.edu	37	chr5	31995817	31995817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaaggaaggaggtgccGctcacaggtgactagataac	14	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:31995817G>A	uc003jhl.2	+	4	1502	c.1114G>A	c.(1114-1116)GCT>ACT	p.A372T	PDZD2_uc003jhm.2_Missense_Mutation_p.A372T|PDZD2_uc011cnx.1_Missense_Mutation_p.A198T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	372	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGGAGGTGCCGCTCACAGGTG	0.388													A	31995817	G	A	31995817	3	1	198	1	0	0	0	0	1	0	0	0	11701	1087	38	1	1124	1	PDZD2	5	31995817	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	12350	31995817	148919443	388	109477											
RXFP3	51289	broad.mit.edu	37	chr5	33937053	33937053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcccccgggcagcggcGgggcagagagcgcggacaca	17	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:33937053G>A	uc003jic.1	+	1	565	c.208G>A	c.(208-210)GGG>AGG	p.G70R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	70	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GGGCAGCGGCGGGGCAGAGAG	0.697													A	33937053	G	A	33937053	3	1	198	1	0	0	0	0	1	0	0	0	13761	1116	39	1	210	1	RXFP3	5	33937053	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1941236	33937053	146978207	389	109478											
NIPBL	25836	broad.mit.edu	37	chr5	37002815	37002815	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaggaaaacatcagcttaAtgaacttggcagtgaatctg	9	7	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:37002815A>C	uc003jkl.3	+	15	4215	c.3716A>C	c.(3715-3717)AAT>ACT	p.N1239T	NIPBL_uc003jkk.3_Missense_Mutation_p.N1239T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1239					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			CATCAGCTTAATGAACTTGGC	0.313													C	37002815	A	C	37002815	3	2	198	1	0	0	0	0	1	0	0	0	10428	101	4	5	3770	5	NIPBL	5	37002815	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3065762	37002815	143912445	390	109479											
HEATR7B2	133558	broad.mit.edu	37	chr5	41018876	41018876	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagggcgtccatggatcGttcatagagaaactgaaatc	10	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:41018876G>A	uc003jmj.3	-	26	3080	c.2590C>T	c.(2590-2592)CGA>TGA	p.R864*	HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.R419*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	864							binding			ovary(6)|central_nervous_system(2)	8						TCCATGGATCGTTCATAGAGA	0.463													A	41018876	G	A	41018876	4	1	198	1	0	0	0	0	0	1	0	0	7035	1153	40	1	2235	1	HEATR7B2	5	41018876	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4016061	41018876	139896384	391	109480											
PLCXD3	345557	broad.mit.edu	37	chr5	41382280	41382280	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggaccagtttttcatggtGatatttctgcatcccataaa	7	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:41382280G>A	uc003jmm.1	-	2	562	c.460C>T	c.(460-462)CAC>TAC	p.H154Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	154	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						TTTTCATGGTGATATTTCTGC	0.413													A	41382280	G	A	41382280	3	1	198	1	0	0	0	0	1	0	0	0	12043	1290	45	4	513	4	PLCXD3	5	41382280	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	363404	41382280	139532980	392	109481											
NNT	23530	broad.mit.edu	37	chr5	43616017	43616017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttaaagacatcaggaaCgctgattagttttatttacc	6	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:43616017C>T	uc003joe.2	+	4	704	c.449C>T	c.(448-450)ACG>ATG	p.T150M	NNT_uc003jof.2_Missense_Mutation_p.T150M	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	150	Mitochondrial matrix.				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			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	ACATCAGGAACGCTGATTAGT	0.398													T	43616017	C	T	43616017	3	4	198	1	0	0	0	0	1	0	0	0	10510	536	19	1	459	1	NNT	5	43616017	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2233737	43616017	137299243	393	109482											
ITGA1	3672	broad.mit.edu	37	chr5	52218611	52218611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcaccctctaggacaAgcatgactttcaggactctg	8	11	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:52218611A>G	uc003jou.2	+	18	2349	c.2297A>G	c.(2296-2298)AAG>AGG	p.K766R	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.K297R	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	766	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTCTAGGACAAGCATGACTTT	0.408													G	52218611	A	G	52218611	3	3	198	1	0	0	0	0	1	0	0	0	7872	72	3	3	2367	3	ITGA1	5	52218611	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	8602594	52218611	128696649	394	109483											
HSPB3	8988	broad.mit.edu	37	chr5	53751959	53751959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggttttatctcaagaagcTtcacccgacagtacaaacta	6	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:53751959T>C	uc003jph.1	+	1	515	c.340T>C	c.(340-342)TTC>CTC	p.F114L		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	114					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				CTCAAGAAGCTTCACCCGACA	0.458													C	53751959	T	C	53751959	3	2	198	1	0	0	0	0	1	0	0	0	7421	1609	56	3	342	3	HSPB3	5	53751959	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1533348	53751959	127163301	395	109484											
MAP3K1	4214	broad.mit.edu	37	chr5	56178223	56178223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagccatctagacctAccccaggtaatacaagtaaa	7	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:56178223A>G	uc003jqw.3	+	14	3697	c.3196A>G	c.(3196-3198)ACC>GCC	p.T1066A		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1066					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			ovary(1)|skin(1)	2		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)		ATCTAGACCTACCCCAGGTAA	0.443													G	56178223	A	G	56178223	3	3	198	1	0	0	0	0	1	0	0	0	9243	391	14	3	3250	3	MAP3K1	5	56178223	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2426264	56178223	124737037	396	109485											
CENPH	64946	broad.mit.edu	37	chr5	68490522	68490522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaaaagcaaatcgaagCgtatgttatatttaaaaatt	7	4	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:68490522C>T	uc003jvp.2	+	3	326	c.239C>T	c.(238-240)GCT>GTT	p.A80V	CENPH_uc010ixc.2_Missense_Mutation_p.A80V	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	centromere protein H	80	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			large_intestine(1)	1		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		CAAATCGAAGCGTATGTTATA	0.179													T	68490522	C	T	68490522	3	4	198	1	0	0	0	0	1	0	0	0	3232	782	27	1	249	1	CENPH	5	68490522	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	12312299	68490522	112424738	397	109486											
BDP1	55814	broad.mit.edu	37	chr5	70754406	70754406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttttaatttcaacagTactgaaaagactggtggtga	8	5	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:70754406T>C	uc003kbp.1	+	2	476	c.213T>C	c.(211-213)AGT>AGC	p.S71S	BDP1_uc003kbn.1_Silent_p.S71S|BDP1_uc003kbo.2_Silent_p.S71S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	71	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		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)		ATTTCAACAGTACTGAAAAGA	0.373													C	70754406	T	C	70754406	2	2	198	1	0	0	0	0	0	0	0	1	1395	1652	57	3		3	BDP1	5	70754406	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2263884	70754406	110160854	398	109487											
ZNF366	167465	broad.mit.edu	37	chr5	71757157	71757157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgggggaggttcatacCgaaactgggaaaatggccct	13	10	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:71757157C>T	uc003kce.1	-	2	353	c.167G>A	c.(166-168)CGG>CAG	p.R56Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGTTCATACCGAAACTGGGA	0.592													T	71757157	C	T	71757157	3	4	198	1	0	0	0	0	1	0	0	0	17867	652	23	1	2083	1	ZNF366	5	71757157	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1002751	71757157	109158103	399	109488											
GFM2	84340	broad.mit.edu	37	chr5	74026203	74026203	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatctctatatgtaactcCcccataccacacagaacagt	3	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:74026203C>A	uc003kdh.1	-	17	1912	c.1608G>T	c.(1606-1608)GGG>GGT	p.G536G	GFM2_uc003kdi.1_Silent_p.G489G|GFM2_uc010izj.1_Silent_p.G568G|GFM2_uc010izk.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	536					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		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)		TATGTAACTCCCCCATACCAC	0.378													A	74026203	C	A	74026203	2	1	198	1	0	0	0	0	0	0	0	1	6342	610	22	5		5	GFM2	5	74026203	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2269046	74026203	106889057	400	109489											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733692	79733693	+	Frame_Shift_Ins	INS	-	-	T													aaagtaaagcacggggtgatINStttttacctcagcatgaaca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:79733691_79733692A>AT	uc003kgr.4	+	3	1489_1490	c.1187_1188A>AT	c.(1186-1188)gatfs	p.D396fs	ZFYVE16_uc010jak.2_Frame_Shift_Ins_p.D396fs|ZFYVE16_uc003kgp.3_Frame_Shift_Ins_p.D396fs|ZFYVE16_uc003kgq.4_Frame_Shift_Ins_p.D396fs|ZFYVE16_uc003kgs.4_Frame_Shift_Ins_p.D396fs	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	396					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)		GCACGGGGTGATTTTTTACCTC	0.401													T	79733693	-	T	79733692	7	5	198	1	0	1	1	0	0	0	0	0	17661	1490	52	0	1194	0	ZFYVE16	5	79733692	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	5707489	79733692	101181568	401	109490											
RASGRF2	5924	broad.mit.edu	37	chr5	80382721	80382721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatcgaaagaatgatcGtggagggctgtgacatcttg	13	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:80382721G>A	uc003kha.1	+	9	1339	c.1339G>A	c.(1339-1341)GTG>ATG	p.V447M	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.V275M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	447					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			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		AAGAATGATCGTGGAGGGCTG	0.507													A	80382721	G	A	80382721	3	1	198	1	0	0	0	0	1	0	0	0	13073	1145	40	1	1373	1	RASGRF2	5	80382721	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	649029	80382721	100532539	402	109491											
SSBP2	23635	broad.mit.edu	37	chr5	80769592	80769592	+	Splice_Site	DEL	A	A	-													cacccatatttggatgtcctAaaaaaagtatgaagacatta							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:80769591_80769591TA>T	uc003khp.3	-	8	711	c.500_splice	c.e8-1	p.G167_splice	SSBP2_uc003khn.3_Splice_Site_p.G41_splice|SSBP2_uc011ctr.2_Splice_Site_p.G137_splice|SSBP2_uc003kho.3_Splice_Site_p.G167_splice|SSBP2_uc011ctp.2_Splice_Site_p.G147_splice|SSBP2_uc011ctq.2_Splice_Site_p.G137_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	167	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGGATGTCCTAAAAAAAGTA	0.428													-	80769592	A	-	80769592	8	5	198	1	0	1	0	1	0	0	1	0	15179	377	13	0		0	SSBP2	5	80769592	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	386871	80769592	100145668	403	109492											
VCAN	1462	broad.mit.edu	37	chr5	82817797	82817797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacacaacttcagcattcaaGccatcttccgcgatcactaa	4	15	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:82817797G>T	uc003kii.3	+	7	4028	c.3672G>T	c.(3670-3672)AAG>AAT	p.K1224N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.K1224N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1224	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CAGCATTCAAGCCATCTTCCG	0.423													T	82817797	G	T	82817797	3	4	198	1	0	0	0	0	1	0	0	0	17135	962	34	5	3694	5	VCAN	5	82817797	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2048205	82817797	98097463	404	109493											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631731	101631731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcctcaaactcggacagcGacagtgaccggagcttctct	9	15	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:101631731G>A	uc003knm.2	-	1	523	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	79	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		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)		CTCGGACAGCGACAGTGACCG	0.582													A	101631731	G	A	101631731	3	1	198	1	0	0	0	0	1	0	0	0	14730	1059	37	1	1990	1	SLCO4C1	5	101631731	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	18813934	101631731	79283529	405	109494											
SLCO6A1	133482	broad.mit.edu	37	chr5	101815974	101815974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattaaaaaggaggaagctaCaaaccatattactttttttc	5	6	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:101815974C>T	uc003knn.2	-	2	695	c.523G>A	c.(523-525)GTA>ATA	p.V175I	SLCO6A1_uc003kno.2_Missense_Mutation_p.V175I|SLCO6A1_uc003knp.2_Missense_Mutation_p.V175I|SLCO6A1_uc003knq.2_Missense_Mutation_p.V175I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	175	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		GAGGAAGCTACAAACCATATT	0.338													T	101815974	C	T	101815974	3	4	198	1	0	0	0	0	1	0	0	0	14732	478	17	4	1684	4	SLCO6A1	5	101815974	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	184243	101815974	79099286	406	109495											
APC	324	broad.mit.edu	37	chr5	112103087	112103087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagaacttgagaaagagaGgtaacttttcttcatatagt	9	4	2	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:112103087G>T	uc010jby.2	+	4	802	c.422G>T	c.(421-423)AGG>ATG	p.R141M	APC_uc011cvt.1_Missense_Mutation_p.R151M|APC_uc003kpz.3_Missense_Mutation_p.R141M|APC_uc003kpy.3_Missense_Mutation_p.R141M|APC_uc010jbz.2_Translation_Start_Site	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	141	Leu-rich.|Potential.				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.R141fs*6(2)|p.R141S(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		GAGAAAGAGAGGTAACTTTTC	0.333		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112103087	G	T	112103087	3	4	198	1	0	0	0	0	1	0	0	0	763	1014	35	5	432	5	APC	5	112103087	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	10287113	112103087	68812173	407	109496											
YTHDC2	64848	broad.mit.edu	37	chr5	112860771	112860771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgactcataatacaaaAcatgctgttaggagcctaat	6	7	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:112860771A>G	uc003kqn.2	+	3	555	c.372A>G	c.(370-372)AAA>AAG	p.K124K	YTHDC2_uc010jce.1_Silent_p.K124K|YTHDC2_uc010jcf.1_Intron	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	124							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		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)		ATAATACAAAACATGCTGTTA	0.373													G	112860771	A	G	112860771	2	3	198	1	0	0	0	0	0	0	0	1	17494	40	2	3		3	YTHDC2	5	112860771	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	757684	112860771	68054489	408	109497											
CEP120	153241	broad.mit.edu	37	chr5	122713213	122713213	+	Frame_Shift_Del	DEL	T	T	-													gacgttctgattgcagttccTttttttctctttgaagctta							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:122713212_122713212CT>C	uc003ktk.3	-	16	2330	c.2214_2214AG>G	c.(2212-2214)aagfs	p.K738fs	CEP120_uc010jcz.2_Frame_Shift_Del_p.K712fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.K547fs	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	738						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						ATTGCAGTTCCTTTTTTTCTC	0.388													-	122713213	T	-	122713213	7	5	198	1	0	1	0	1	0	0	0	0	3246	1609	56	0	767	0	CEP120	5	122713213	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	9852442	122713213	58202047	409	109498											
ZNF608	57507	broad.mit.edu	37	chr5	123984438	123984438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaacactggagaagagcAgccttggtccaaaaaagtag	11	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:123984438A>G	uc003ktq.1	-	4	1762	c.1639T>C	c.(1639-1641)TGC>CGC	p.C547R	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.C547R|ZNF608_uc003ktt.1_Missense_Mutation_p.C547R	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	547						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		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)		GGAGAAGAGCAGCCTTGGTCC	0.498													G	123984438	A	G	123984438	3	3	198	1	0	0	0	0	1	0	0	0	18031	188	7	3	2923	3	ZNF608	5	123984438	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1271225	123984438	56930822	410	109499											
IL3	3562	broad.mit.edu	37	chr5	131398085	131398085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcatcagcaattgagagCattcttaaagtatgtgaagc	9	7	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:131398085C>T	uc003kwe.1	+	3	338	c.285C>T	c.(283-285)AGC>AGT	p.S95S		NM_000588	NP_000579	P08700	IL3_HUMAN	interleukin 3 precursor	95					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			ovary(2)|central_nervous_system(1)	3		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CAATTGAGAGCATTCTTAAAG	0.517													T	131398085	C	T	131398085	2	4	198	1	0	0	0	0	0	0	0	1	7689	709	25	2		2	IL3	5	131398085	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	7413647	131398085	49517175	411	109500											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334372	132334373	+	In_Frame_Ins	INS	-	-	GAG													ggaatctgagtctgaatcagINSaggaggaggaagaggttgtg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:132334371_132334372A>AGAG	uc003kyh.3	-	4	493_494	c.482_483T>CTCT	c.(481-483)tct>tCTCT	p.S161S	ZCCHC10_uc003kyg.3_In_Frame_Ins_p.S139S|ZCCHC10_uc011cxl.2_In_Frame_Ins_p.S125S	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	161	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCTGAATCAgaggaggagga	0.475													GAG	132334373	-	GAG	132334372	7	5	198	1	0	1	1	0	0	0	0	0	17576	942	33	0	100	0	ZCCHC10	5	132334372	In_Frame_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	936287	132334372	48580888	412	109501											
FSTL4	23105	broad.mit.edu	37	chr5	132534817	132534817	+	Frame_Shift_Del	DEL	C	C	-													cccacccacaccactgtggtCcccccctttatacctgacac					rs140495211		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:132534817delC	uc003kyn.1	-	16	2717	c.2499delG	c.(2497-2499)GGGfs	p.G833fs	FSTL4_uc003kym.1_Frame_Shift_Del_p.G482fs	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	833						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACTGTGGTCCCCCCCTTTA	0.582													-	132534817	C	-	132534817	7	5	198	1	0	1	0	1	0	0	0	0	6079	842	30	0	33	0	FSTL4	5	132534817	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	200445	132534817	48380443	413	109502											
VDAC1	7416	broad.mit.edu	37	chr5	133328691	133328691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagatcggcatacgtggGtggcacagccatcttctgct	12	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:133328691G>A	uc003kyp.1	-	2	112	c.13C>T	c.(13-15)CCC>TCC	p.P5S	VDAC1_uc003kyq.1_Missense_Mutation_p.P5S|VDAC1_uc003kyr.1_Missense_Mutation_p.P5S	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	5					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GCATACGTGGGTGGCACAGCC	0.428													A	133328691	G	A	133328691	3	1	198	1	0	0	0	0	1	0	0	0	17143	1261	44	4	870	4	VDAC1	5	133328691	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	793874	133328691	47586569	414	109503											
TCF7	6932	broad.mit.edu	37	chr5	133473836	133473836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcccacccctgcacctgcGgacatcagccagaagcaagg	9	17	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:133473836G>A	uc003kyt.2	+	4	724	c.528G>A	c.(526-528)GCG>GCA	p.A176A	TCF7_uc003kyu.1_Silent_p.A61A|TCF7_uc003kyv.2_Silent_p.A61A|TCF7_uc003kyw.2_Silent_p.A61A|TCF7_uc003kyx.2_5'UTR|TCF7_uc003kyy.2_Silent_p.A61A|TCF7_uc003kyz.2_Silent_p.A61A|TCF7_uc003kza.2_Silent_p.A61A	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	176					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				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCACCTGCGGACATCAGCC	0.582													A	133473836	G	A	133473836	2	1	198	1	0	0	0	0	0	0	0	1	15693	1103	39	1		1	TCF7	5	133473836	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	145145	133473836	47441424	415	109504											
SAR1B	51128	broad.mit.edu	37	chr5	133948427	133948427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaaacgtcatgccagcAatggtcagttcttcggaagc	11	9	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:133948427A>G	uc003kzq.2	-	5	445	c.198T>C	c.(196-198)ATT>ATC	p.I66I	SAR1B_uc003kzr.2_Silent_p.I66I	NM_001033503	NP_001028675	Q9Y6B6	SAR1B_HUMAN	SAR1a gene homolog 2	66					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATGCCAGCAATGGTCAGTT	0.214													G	133948427	A	G	133948427	2	3	198	1	0	0	0	0	0	0	0	1	13840	126	5	3		3	SAR1B	5	133948427	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	474591	133948427	46966833	416	109505											
BRD8	10902	broad.mit.edu	37	chr5	137501568	137501568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtctcaaaatccagctcTtcacctgtgtaagacacagc	6	13	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:137501568T>G	uc003lcf.1	-	11	1282	c.1227A>C	c.(1225-1227)GAA>GAC	p.E409D	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.E188D|BRD8_uc003lcg.2_Missense_Mutation_p.E482D|BRD8_uc003lci.2_Missense_Mutation_p.E412D|BRD8_uc003lch.2_Missense_Mutation_p.E303D|BRD8_uc011cym.1_Missense_Mutation_p.E393D|BRD8_uc010jer.1_Missense_Mutation_p.E378D|BRD8_uc011cyn.1_Missense_Mutation_p.E368D	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	409					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATCCAGCTCTTCACCTGTGT	0.468													G	137501568	T	G	137501568	3	3	198	1	0	0	0	0	1	0	0	0	1506	1606	56	5	2612	5	BRD8	5	137501568	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	3553141	137501568	43413692	417	109506											
EGR1	1958	broad.mit.edu	37	chr5	137803132	137803132	+	Frame_Shift_Del	DEL	C	C	-													ccaaccggcccagcaagacgCccccccacgaacgcccttac					rs148475837		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:137803131_137803131GC>G	uc003ldb.1	+	1	1263	c.993_993GC>G	c.(991-993)acgfs	p.T331fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					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)			CCAGCAAGACGCCCCCCCACG	0.652													-	137803132	C	-	137803132	7	5	198	1	0	1	0	1	0	0	0	0	4971	739	26	0	1000	0	EGR1	5	137803132	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	301564	137803132	43112128	418	109507											
PCDHA1	56147	broad.mit.edu	37	chr5	140168055	140168055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggtgctcagtgccgcCcactgagggtgcgtatgtgc	16	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140168055C>A	uc003lhb.2	+	1	2180	c.2180C>A	c.(2179-2181)CCC>CAC	p.P727H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.P727H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	727	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGCCGCCCACTGAGGGT	0.642													A	140168055	C	A	140168055	3	1	198	1	0	0	0	0	1	0	0	0	11519	623	22	5	2182	5	PCDHA1	5	140168055	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2364923	140168055	40747205	419	109508											
PCDHA3	56145	broad.mit.edu	37	chr5	140180869	140180869	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcggaggtggggagcggCcagctccactactccgtctc	14	15	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140180869C>T	uc003lhf.2	+	1	87	c.87C>T	c.(85-87)GGC>GGT	p.G29G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.G29G	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	29					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGAGCGGCCAGCTCCACT	0.642													T	140180869	C	T	140180869	2	4	198	1	0	0	0	0	0	0	0	1	11525	726	26	2		2	PCDHA3	5	140180869	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	12814	140180869	40734391	420	109509											
PCDHA3	56145	broad.mit.edu	37	chr5	140182434	140182434	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcagcaacgtgacgcTgcaggtgttcgtgctggacg	16	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140182434T>G	uc003lhf.2	+	1	1652	c.1652T>G	c.(1651-1653)CTG>CGG	p.L551R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.L551R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	551	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGTGACGCTGCAGGTGTTC	0.682													G	140182434	T	G	140182434	3	3	198	1	0	0	0	0	1	0	0	0	11525	1580	55	5	1654	5	PCDHA3	5	140182434	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1565	140182434	40732826	421	109510											
PCDHA7	56141	broad.mit.edu	37	chr5	140215070	140215070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgcccaaccaggtaccGtcatcacattgattagcgtg	10	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140215070G>A	uc003lhq.2	+	1	1102	c.1102G>A	c.(1102-1104)GTC>ATC	p.V368I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.V368I	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	368	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGGTACCGTCATCACATT	0.507													A	140215070	G	A	140215070	3	1	198	1	0	0	0	0	1	0	0	0	11529	1145	40	1	1104	1	PCDHA7	5	140215070	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	32636	140215070	40700190	422	109511											
PCDHA9	9752	broad.mit.edu	37	chr5	140230119	140230119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggcgccaaagtcatcgtCgcgggcgtcagtgggtgcca	15	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140230119C>T	uc003lhu.2	+	1	2763	c.2039C>T	c.(2038-2040)TCG>TTG	p.S680L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S680L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	680	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTCATCGTCGCGGGCGTCA	0.652													T	140230119	C	T	140230119	3	4	198	1	0	0	0	0	1	0	0	0	11531	893	31	1	2041	1	PCDHA9	5	140230119	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	15049	140230119	40685141	423	109512											
PCDHA12	56137	broad.mit.edu	37	chr5	140256419	140256419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacgacaatgcgcctgcGttcgcgcagcccgagtacac	12	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140256419G>A	uc003lic.2	+	1	1489	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A454A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	454	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652													A	140256419	G	A	140256419	2	1	198	1	0	0	0	0	0	0	0	1	11522	1132	40	1		1	PCDHA12	5	140256419	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	26300	140256419	40658841	424	109513											
PCDHB6	56130	broad.mit.edu	37	chr5	140531448	140531448	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgccacagaccgcggctcccCggcgttgagcagcgaggcgc	15	17	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140531448C>G	uc003lir.2	+	1	1610	c.1610C>G	c.(1609-1611)CCG>CGG	p.P537R	PCDHB6_uc011dah.1_Missense_Mutation_p.P401R	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	537	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGCTCCCCGGCGTTGAGC	0.672													G	140531448	C	G	140531448	3	3	198	1	0	0	0	0	1	0	0	0	11546	652	23	5	1612	5	PCDHB6	5	140531448	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	275029	140531448	40383812	425	109514											
PCDHB16	57717	broad.mit.edu	37	chr5	140563826	140563826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccttcgtgctgtacccGctgcagaacggctccgcgcc	11	18	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140563826G>A	uc003liv.2	+	1	2847	c.1692G>A	c.(1690-1692)CCG>CCA	p.P564P		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	564	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGTACCCGCTGCAGAACG	0.721													A	140563826	G	A	140563826	2	1	198	1	0	0	0	0	0	0	0	1	11541	1074	38	1		1	PCDHB16	5	140563826	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	32378	140563826	40351434	426	109515											
PCDHB9	56127	broad.mit.edu	37	chr5	140568792	140568792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctgctgagcgagcgcgAcgcagccaagcacaggctgg	16	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140568792A>G	uc003liw.1	+	3	1901	c.1901A>G	c.(1900-1902)GAC>GGC	p.D634G		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	634	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGAGCGCGACGCAGCCAAG	0.682													G	140568792	A	G	140568792	3	3	198	1	0	0	0	0	1	0	0	0	11549	275	10	3	1902	3	PCDHB9	5	140568792	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4966	140568792	40346468	427	109516											
PCDHGB2	56103	broad.mit.edu	37	chr5	140739886	140739886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagcgtccgggacttgCcagcccggaagctgcgggtt	16	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140739886C>T	uc003ljs.1	+	1	184	c.184C>T	c.(184-186)CCA>TCA	p.P62S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.P62S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGACTTGCCAGCCCGGAA	0.537													T	140739886	C	T	140739886	3	4	198	1	0	0	0	0	1	0	0	0	11563	739	26	2	186	2	PCDHGB2	5	140739886	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	171094	140739886	40175374	428	109517											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762928	140762928	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggggttcggtttccgttAagcgaggctggggatccaga	16	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140762928A>G	uc003lka.1	+	1	462	c.462A>G	c.(460-462)TTA>TTG	p.L154L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.L154L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	154	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTCCGTTAAGCGAGGCTG	0.473													G	140762928	A	G	140762928	2	3	198	1	0	0	0	0	0	0	0	1	11559	359	13	3		3	PCDHGA7	5	140762928	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	23042	140762928	40152332	429	109518											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789521	140789521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctcgctctgcagagccCggctacctagtgactaaggt	11	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140789521C>T	uc003lkj.1	+	1	1752	c.1752C>T	c.(1750-1752)CCC>CCT	p.P584P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.P584P	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	584	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGAGCCCGGCTACCTAG	0.632													T	140789521	C	T	140789521	2	4	198	1	0	0	0	0	0	0	0	1	11567	639	23	1		1	PCDHGB6	5	140789521	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	26593	140789521	40125739	430	109519											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798879	140798879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagacttcgggctcaacGgccgtgtctcctactctctc	8	17	3	1	rs35892780		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140798879G>A	uc003lkn.1	+	1	1598	c.1453G>A	c.(1453-1455)GGC>AGC	p.G485S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.G485S|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	485	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCTCAACGGCCGTGTCTC	0.622													A	140798879	G	A	140798879	3	1	198	1	0	0	0	0	1	0	0	0	11568	1116	39	1	1455	1	PCDHGB7	5	140798879	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	9358	140798879	40116381	431	109520											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811594	140811594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctacaacatcacagtgaCcgccactgaccggggaaccc	9	15	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140811594C>T	uc003lkt.1	+	1	1437	c.1268C>T	c.(1267-1269)ACC>ATC	p.T423I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T423I	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	423	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACAGTGACCGCCACTGAC	0.507													T	140811594	C	T	140811594	3	4	198	1	0	0	0	0	1	0	0	0	11553	507	18	4	1270	4	PCDHGA12	5	140811594	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	12715	140811594	40103666	432	109521											
GPR151	134391	broad.mit.edu	37	chr5	145894693	145894693	+	Frame_Shift_Del	DEL	T	T	-													gactctgagacagttggaggTtttttggttatcatccattt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:145894692_145894692GT>G	uc003lod.1	-	0	985	c.985_985AC>C	c.(985-987)cctfs	p.P329fs		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGTTGGAGGTTTTTTGGTT	0.453													-	145894693	T	-	145894693	7	5	198	1	0	1	0	1	0	0	0	0	6657	1722	60	0	279	0	GPR151	5	145894693	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	5083099	145894693	35020567	433	109522											
STK32A	202374	broad.mit.edu	37	chr5	146619223	146619223	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcgaacacttcaagaaaacCaccagtgtttgatgaaaatg	8	8	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:146619223C>G	uc010jgn.1	+	2	306	c.26C>G	c.(25-27)CCA>CGA	p.P9R	STK32A_uc003lol.3_Missense_Mutation_p.P9R|STK32A_uc003lom.2_Missense_Mutation_p.P9R|STK32A_uc011dbw.1_Missense_Mutation_p.P9R	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	9							ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGAAAACCACCAGTGTTT	0.378													G	146619223	C	G	146619223	3	3	198	1	0	0	0	0	1	0	0	0	15296	594	21	5	28	5	STK32A	5	146619223	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	724530	146619223	34296037	434	109523											
FBXO38	81545	broad.mit.edu	37	chr5	147807115	147807115	+	Frame_Shift_Del	DEL	C	C	-													gtccaggcagtgtgcctgctCccccggtgggtcagaggact							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:147807114_147807114TC>T	uc003lpf.1	+	14	2377	c.2257_2257TC>T	c.(2257-2259)tccfs	p.S753fs	FBXO38_uc003lpg.1_Frame_Shift_Del_p.S753fs|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	753						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)			GTGTGCCTGCTCCCCCGGTGG	0.602													-	147807115	C	-	147807115	7	5	198	1	0	1	0	1	0	0	0	0	5746	855	30	0	2312	0	FBXO38	5	147807115	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	1187892	147807115	33108145	435	109524											
PDGFRB	5159	broad.mit.edu	37	chr5	149514442	149514442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcataggggacaggcagtgCaacgtcccctttcttctcgt	10	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:149514442C>A	uc003lro.2	-	4	971	c.502G>T	c.(502-504)GCA>TCA	p.A168S	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.A168S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	168	Extracellular (Potential).|Ig-like C2-type 2.				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	ACAGGCAGTGCAACGTCCCCT	0.498			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								A	149514442	C	A	149514442	3	1	198	1	0	0	0	0	1	0	0	0	11662	710	25	5	2898	5	PDGFRB	5	149514442	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1707327	149514442	31400818	436	109525											
CD74	972	broad.mit.edu	37	chr5	149782828	149782828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgggcctgaatgaacccgGgtggacagcagggatgtggc	17	9	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:149782828G>T	uc003lsc.2	-	7	684	c.673C>A	c.(673-675)CCG>ACG	p.P225T	CD74_uc003lsb.2_Intron|CD74_uc003lse.2_Intron|CD74_uc003lsd.2_Intron|CD74_uc003lsf.1_Missense_Mutation_p.P225T	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	CD74 antigen isoform a	225	Thyroglobulin type-1.|Extracellular (Potential).				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGAACCCGGGTGGACAGCA	0.577			T	ROS1	NSCLC								T	149782828	G	T	149782828	3	4	198	1	0	0	0	0	1	0	0	0	3035	1232	43	5	229	5	CD74	5	149782828	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	268386	149782828	31132432	437	109526											
SYNPO	11346	broad.mit.edu	37	chr5	150029083	150029083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccagggggaggtaggcGtggaggaggagcccttcgca	21	8	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:150029083G>A	uc003lsn.2	+	3	2352	c.1978G>A	c.(1978-1980)GTG>ATG	p.V660M	SYNPO_uc003lso.3_Missense_Mutation_p.V416M|SYNPO_uc003lsp.2_Missense_Mutation_p.V416M	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	660					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			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGTAGGCGTGGAGGAGGA	0.667													A	150029083	G	A	150029083	3	1	198	1	0	0	0	0	1	0	0	0	15453	1145	40	1	1984	1	SYNPO	5	150029083	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	246255	150029083	30886177	438	109527											
SLC36A2	153201	broad.mit.edu	37	chr5	150723790	150723790	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggatccctgtgcccAtgttgcctttcaccaggtga	10	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:150723790A>C	uc003lty.2	-	2	333	c.203T>G	c.(202-204)ATG>AGG	p.M68R	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.M68R|SLC36A2_uc011dct.1_Missense_Mutation_p.M68R	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	68	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTGTGCCCATGTTGCCTTT	0.552													C	150723790	A	C	150723790	3	2	198	1	0	0	0	0	1	0	0	0	14594	217	8	5	1284	5	SLC36A2	5	150723790	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	694707	150723790	30191470	439	109528											
CCDC99	54908	broad.mit.edu	37	chr5	169021159	169021161	+	In_Frame_Del	DEL	AAG	AAG	-													tgttaaatagaccaccctcaAagaagaagtgaatgaactac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:169021159_169021161delAAG	uc003mae.3	+	5	821_823	c.542_544delAAG	c.(541-546)AAAGAA>AAA	p.E183del	CCDC99_uc010jjj.2_In_Frame_Del_p.E112del|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	183	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACCCTCAAAGAAGAAGTGAA	0.399													-	169021161	AAG	-	169021159	7	5	198	1	0	1	0	1	0	0	0	0	2876	14	1	0	556	0	CCDC99	5	169021159	In_Frame_Del	DEL	AAG	TCGA-CG-5733-01A-11D-1600-08	18297369	169021159	11894101	440	109529											
FGF18	8817	broad.mit.edu	37	chr5	170863205	170863205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtaccagctctacagcCggaccagtgggaaacacatc	11	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:170863205C>T	uc003mbk.2	+	3	715	c.178C>T	c.(178-180)CGG>TGG	p.R60W		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	60					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCTACAGCCGGACCAGTGG	0.627													T	170863205	C	T	170863205	3	4	198	1	0	0	0	0	1	0	0	0	5846	643	23	1	188	1	FGF18	5	170863205	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1842046	170863205	10052055	441	109530											
CPEB4	80315	broad.mit.edu	37	chr5	173380104	173380104	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttaattagtggagcttgcGatgataatggatcggctata	11	5	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:173380104G>A	uc003mcs.3	+	9	3197	c.1791G>A	c.(1789-1791)GCG>GCA	p.A597A	CPEB4_uc010jju.1_Silent_p.A572A|CPEB4_uc010jjv.2_Silent_p.A580A|CPEB4_uc011dfg.1_Silent_p.A572A|CPEB4_uc003mct.3_Silent_p.A207A|CPEB4_uc003mcu.3_Silent_p.A190A	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	597	RRM 2.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGAGCTTGCGATGATAATGG	0.428													A	173380104	G	A	173380104	2	1	198	1	0	0	0	0	0	0	0	1	3803	1045	37	1		1	CPEB4	5	173380104	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2516899	173380104	7535156	442	109531											
HRH2	3274	broad.mit.edu	37	chr5	175110384	175110384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttgaaccgccggctcCgcaacctgaccaattgtttc	10	14	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:175110384C>T	uc003mdd.2	+	1	1921	c.148C>T	c.(148-150)CGC>TGC	p.R50C	HRH2_uc003mdc.3_Missense_Mutation_p.R50C	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	50	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	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)	CCGCCGGCTCCGCAACCTGAC	0.582													T	175110384	C	T	175110384	3	4	198	1	0	0	0	0	1	0	0	0	7356	652	23	1	150	1	HRH2	5	175110384	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1730280	175110384	5804876	443	109532											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070250	176070250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaagtcaagctggagctGcaccccttgcagaacaggta	12	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:176070250G>A	uc010jkf.1	+	4	767	c.183G>A	c.(181-183)CTG>CTA	p.L61L		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	61					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|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)			AGCTGGAGCTGCACCCcttgc	0.328													A	176070250	G	A	176070250	2	1	198	1	0	0	0	0	0	0	0	1	5029	1306	46	2		2	EIF4E1B	5	176070250	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	959866	176070250	4845010	444	109533											
MAML1	9794	broad.mit.edu	37	chr5	179193438	179193438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaataagagttcccctcGgcccggaggcccctacctcc	10	16	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:179193438G>A	uc003mkm.2	+	2	1690	c.1427G>A	c.(1426-1428)CGG>CAG	p.R476Q	MAML1_uc003mkn.1_Missense_Mutation_p.R476Q	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	476					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			lung(4)|ovary(2)	6	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)			AGTTCCCCTCGGCCCGGAGGC	0.557													A	179193438	G	A	179193438	3	1	198	1	0	0	0	0	1	0	0	0	9205	1116	39	1	1433	1	MAML1	5	179193438	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3123188	179193438	1721822	445	109534											
TRIM52	84851	broad.mit.edu	37	chr5	180687467	180687467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcccacatatagtctacGttgtcccaattagttatacc	5	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:180687467G>A	uc003mnp.2	-	1	653	c.348C>T	c.(346-348)AAC>AAT	p.N116N	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	116	Glu-rich.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TATAGTCTACGTTGTCCCAAT	0.478													A	180687467	G	A	180687467	2	1	198	1	0	0	0	0	0	0	0	1	16524	1136	40	1		1	TRIM52	5	180687467	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1494029	180687467	227793	446	109535											
FARS2	10667	broad.mit.edu	37	chr6	5404836	5404836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacaaagttctcgctctgCgcataaacaagagacacaca	7	11	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:5404836C>T	uc010jnv.1	+	3	1010	c.674C>T	c.(673-675)GCG>GTG	p.A225V	FARS2_uc003mwr.2_Missense_Mutation_p.A225V|FARS2_uc003mws.1_Missense_Mutation_p.A225V	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	225					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TCTCGCTCTGCGCATAAACAA	0.418													T	5404836	C	T	5404836	3	4	198	1	0	0	0	0	1	0	0	0	5678	768	27	1	680	1	FARS2	6	5404836	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08		5404836	165710231	447	109536											
ERVFRDE1	405754	broad.mit.edu	37	chr6	11105335	11105335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataggaaatatgtaattccGcctctatgcttgtccattct	7	9	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:11105335G>A	uc003mzt.2	-	2	579	c.209C>T	c.(208-210)GCG>GTG	p.A70V	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFRD1_HUMAN	syncytin 2	70	Extracellular (Potential).					integral to membrane|plasma membrane|virion					0						ATGTAATTCCGCCTCTATGCT	0.458													A	11105335	G	A	11105335	3	1	198	1	0	0	0	0	1	0	0	0	5246	1087	38	1	1411	1	ERVFRDE1	6	11105335	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5700499	11105335	160009732	448	109537											
NHLRC1	378884	broad.mit.edu	37	chr6	18122226	18122226	+	Frame_Shift_Del	DEL	A	A	-													atgacaagcttgatctggccAaaaaaatcaaacactttgat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:18122225_18122225CA>C	uc003ncl.1	-	0	627	c.613_613TG>G	c.(613-615)ggcfs	p.G205fs		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	205					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTGATCTGGCCAAAAAAATCA	0.522													-	18122226	A	-	18122226	7	5	198	1	0	1	0	1	0	0	0	0	10405	127	5	0	579	0	NHLRC1	6	18122226	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	7016891	18122226	152992841	449	109538											
DCDC2	51473	broad.mit.edu	37	chr6	24357791	24357791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcggggtgtagatgttcCtgacggccccaaagggtgcc	15	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:24357791C>T	uc003ndx.2	-	1	490	c.188G>A	c.(187-189)AGG>AAG	p.R63K	DCDC2_uc003ndy.2_Missense_Mutation_p.R63K|KAAG1_uc003ndz.1_5'UTR	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	63	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				GTAGATGTTCCTGACGGCCCC	0.617													T	24357791	C	T	24357791	3	4	198	1	0	0	0	0	1	0	0	0	4285	681	24	4	1282	4	DCDC2	6	24357791	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6235565	24357791	146757276	450	109539											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234786	26234786	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggcttcctaggcttggctgCgccagcctttttggccttgg	13	12	0	0	rs115924520	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:26234786C>G	uc003nhd.2	-	1	431	c.376G>C	c.(376-378)GCA>CCA	p.A126P		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	126					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCTTGGCTGCGCCAGCCTTT	0.562													G	26234786	C	G	26234786	3	3	198	1	0	0	0	0	1	0	0	0	7125	768	27	5	293	5	HIST1H1D	6	26234786	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1876995	26234786	144880281	451	109540											
BTN1A1	696	broad.mit.edu	37	chr6	26502055	26502055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggcatcgccaaggggcGcgtggccttgaggatccgtg	18	11	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:26502055G>A	uc003nif.3	+	2	337	c.317G>A	c.(316-318)CGC>CAC	p.R106H		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	106	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity	p.R106S(1)		ovary(1)|skin(1)	2						GCCAAGGGGCGCGTGGCCTTG	0.657													A	26502055	G	A	26502055	3	1	198	1	0	0	0	0	1	0	0	0	1559	1087	38	1	323	1	BTN1A1	6	26502055	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	267269	26502055	144613012	452	109541											
ZNF184	7738	broad.mit.edu	37	chr6	27420090	27420090	+	Frame_Shift_Del	DEL	T	T	-													cattcattgcattcgtacggTttttcaccagtatgaatcat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:27420089_27420089GT>G	uc003njj.3	-	4	2060	c.1249_1249AC>C	c.(1249-1251)ccgfs	p.P417fs	ZNF184_uc010jqv.3_Frame_Shift_Del_p.P417fs|ZNF184_uc003nji.3_Frame_Shift_Del_p.P417fs	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	417					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						CATTCGTACGGTTTTTCACCA	0.418													-	27420090	T	-	27420090	7	5	198	1	0	1	0	1	0	0	0	0	17748	1722	60	0	1011	0	ZNF184	6	27420090	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	918035	27420090	143694977	453	109542											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806590	27806590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgctgaagcaggtccacCccgacaccggtatctcgtcc	11	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:27806590C>T	uc003njv.2	+	1	151	c.151C>T	c.(151-153)CCC>TCC	p.P51S	HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Missense_Mutation_p.P51S	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	51					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCAGGTCCACCCCGACACCGG	0.597													T	27806590	C	T	27806590	3	4	198	1	0	0	0	0	1	0	0	0	7153	623	22	4	153	4	HIST1H2BN	6	27806590	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	386500	27806590	143308477	454	109543											
ZSCAN16	80345	broad.mit.edu	37	chr6	28094637	28094637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccatatgaatcactgaCtgtccagctccatcccaaaa	6	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:28094637C>T	uc003nkm.2	+	3	564	c.464C>T	c.(463-465)ACT>ATT	p.T155I	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Missense_Mutation_p.T155I	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	155					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GAATCACTGACTGTCCAGCTC	0.507													T	28094637	C	T	28094637	3	4	198	1	0	0	0	0	1	0	0	0	18226	565	20	4	470	4	ZSCAN16	6	28094637	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	288047	28094637	143020430	455	109544											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213420	28213420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatatggcttctcaccaGtgtggactctctgatgaatg	9	10	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:28213420G>A	uc003nks.1	-	5	1356	c.1112C>T	c.(1111-1113)ACT>ATT	p.T371I	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.T216I	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	371					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CTTCTCACCAGTGTGGACTCT	0.478													A	28213420	G	A	28213420	3	1	198	1	0	0	0	0	1	0	0	0	17686	1029	36	4	529	4	ZKSCAN4	6	28213420	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	118783	28213420	142901647	456	109545											
SCAND3	114821	broad.mit.edu	37	chr6	28554244	28554244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctccttggtatgtatcTctgggttcagccactgacgg	11	11	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:28554244T>C	uc003nlo.2	-	1	869	c.251A>G	c.(250-252)GAG>GGG	p.E84G	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	84	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGTATGTATCTCTGGGTTCAG	0.567													C	28554244	T	C	28554244	3	2	198	1	0	0	0	0	1	0	0	0	13876	1551	54	3	3742	3	SCAND3	6	28554244	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	340824	28554244	142560823	457	109546											
GABBR1	2550	broad.mit.edu	37	chr6	29599375	29599375	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtgtatgatctggcaAcctaaggggtgagtcgggga	19	6	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:29599375A>G	uc003nmt.3	-	3	423	c.87T>C	c.(85-87)GGT>GGC	p.G29G	GABBR1_uc003nmu.3_Silent_p.G29G|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Silent_p.G29G	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	29	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TGATCTGGCAACCTAAGGGGT	0.597													G	29599375	A	G	29599375	2	3	198	1	0	0	0	0	0	0	0	1	6155	57	2	3		3	GABBR1	6	29599375	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1045131	29599375	141515692	458	109547											
ABCF1	23	broad.mit.edu	37	chr6	30552301	30552302	+	Frame_Shift_Del	DEL	AG	AG	-													aatgcagaatcgacccacacAgaagttctcagggggctggc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:30552300_30552301CAG>C	uc003nql.3	+	13	1443_1444	c.1348_1349CAG>C	c.(1348-1350)cagfs	p.Q450fs	ABCF1_uc003nqk.2_Frame_Shift_Del_p.Q451fs|ABCF1_uc003nqm.3_Frame_Shift_Del_p.Q412fs	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	450	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						TCGACCCACACAGAAGTTCTCA	0.644													-	30552302	AG	-	30552301	7	5	198	1	0	1	0	1	0	0	0	0	65	188	7	0	1403	0	ABCF1	6	30552301	Frame_Shift_Del	DEL	AG	TCGA-CG-5733-01A-11D-1600-08	952926	30552301	140562766	459	109548											
VARS2	57176	broad.mit.edu	37	chr6	30889738	30889738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatggttttcttctgcccTgttccccttttctgccctgg	7	15	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:30889738T>C	uc003nsc.1	+	18	2404	c.1772T>C	c.(1771-1773)CTG>CCG	p.L591P	VARS2_uc011dmx.1_Missense_Mutation_p.L591P|VARS2_uc011dmy.1_Missense_Mutation_p.L451P|VARS2_uc011dmz.1_Missense_Mutation_p.L621P|VARS2_uc011dna.1_Missense_Mutation_p.L589P|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_Intron|VARS2_uc011dnd.1_Silent_p.P6P|VARS2_uc010jsg.1_Intron|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	591					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TCTTCTGCCCTGTTCCCCTTT	0.547													C	30889738	T	C	30889738	3	2	198	1	0	0	0	0	1	0	0	0	17121	1580	55	3	1936	3	VARS2	6	30889738	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	337437	30889738	140225329	460	109549											
VARS2	57176	broad.mit.edu	37	chr6	30890692	30890692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaaaggactttcctcaCgggatccctgagtgtgggac	12	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:30890692C>T	uc003nsc.1	+	22	2756	c.2124C>T	c.(2122-2124)CAC>CAT	p.H708H	VARS2_uc011dmx.1_Silent_p.H708H|VARS2_uc011dmy.1_Silent_p.H568H|VARS2_uc011dmz.1_Silent_p.H738H|VARS2_uc011dna.1_Silent_p.H706H|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.H146H|VARS2_uc010jsg.1_Silent_p.H80H|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	708					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						ACTTTCCTCACGGGATCCCTG	0.592													T	30890692	C	T	30890692	2	4	198	1	0	0	0	0	0	0	0	1	17121	535	19	1		1	VARS2	6	30890692	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	954	30890692	140224375	461	109550											
VARS	7407	broad.mit.edu	37	chr6	31750063	31750063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgaggaccctacacaccGgatgttgtccatccaggcat	9	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:31750063G>A	uc003nxe.2	-	17	2572	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	717					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCTACACACCGGATGTTGTCC	0.667													A	31750063	G	A	31750063	3	1	198	1	0	0	0	0	1	0	0	0	17120	1130	39	1	1701	1	VARS	6	31750063	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	859371	31750063	139365004	462	109551											
RNF5	6048	broad.mit.edu	37	chr6	32147867	32147867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttggctttttcaccaccGtcttcaatgcccatgagcct	6	15	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:32147867G>A	uc003oaj.3	+	5	536	c.409G>A	c.(409-411)GTC>ATC	p.V137I	AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	137	Helical; (Potential).				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TTTCACCACCGTCTTCAATGC	0.557													A	32147867	G	A	32147867	3	1	198	1	0	0	0	0	1	0	0	0	13497	1145	40	1	427	1	RNF5	6	32147867	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	397804	32147867	138967200	463	109552											
HLA-DQA1	3117	broad.mit.edu	37	chr6	32609246	32609246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaatttggaggttttgAcccgcagggtgcactgagaa	13	8	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:32609246A>G	uc003obr.2	+	2	295	c.242A>G	c.(241-243)GAC>GGC	p.D81G	HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Missense_Mutation_p.D81G|HLA-DQA1_uc003obu.2_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ	80	Alpha-1.|Extracellular (Potential).				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				0						GGAGGTTTTGACCCGCAGGGT	0.498													G	32609246	A	G	32609246	3	3	198	1	0	0	0	0	1	0	0	0	7204	275	10	3	248	3	HLA-DQA1	6	32609246	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	461379	32609246	138505821	464	109553											
ITPR3	3710	broad.mit.edu	37	chr6	33652652	33652652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcaccagcaccaagaacGagaagatcttccaggagagc	9	12	3	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:33652652G>A	uc011drk.1	+	39	5458	c.5239G>A	c.(5239-5241)GAG>AAG	p.E1747K	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1747	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CACCAAGAACGAGAAGATCTT	0.632													A	33652652	G	A	33652652	3	1	198	1	0	0	0	0	1	0	0	0	7922	1059	37	1	5393	1	ITPR3	6	33652652	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1043406	33652652	137462415	465	109554											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825148	34825148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaaagccatctacactcCtttcctgcagtcggaaactt	6	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:34825148C>T	uc003oju.3	+	12	1708	c.1474C>T	c.(1474-1476)CTT>TTT	p.L492F	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	492										ovary(3)	3						ATCTACACTCCTTTCCTGCAG	0.443													T	34825148	C	T	34825148	3	4	198	1	0	0	0	0	1	0	0	0	16965	681	24	4	1520	4	UHRF1BP1	6	34825148	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1172496	34825148	136289919	466	109555											
ZNF76	7629	broad.mit.edu	37	chr6	35258107	35258107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggagacagagcattccGctgtggctacaagggctgtg	15	8	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:35258107G>A	uc003oki.1	+	6	702	c.497G>A	c.(496-498)CGC>CAC	p.R166H	ZNF76_uc011dsy.1_Missense_Mutation_p.R166H|ZNF76_uc011dsz.1_Missense_Mutation_p.R166H|ZNF76_uc003okj.1_Missense_Mutation_p.R166H	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	166	C2H2-type 1.				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				0						AGAGCATTCCGCTGTGGCTAC	0.527													A	35258107	G	A	35258107	3	1	198	1	0	0	0	0	1	0	0	0	18132	1087	38	1	515	1	ZNF76	6	35258107	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	432959	35258107	135856960	467	109556											
FANCE	2178	broad.mit.edu	37	chr6	35425715	35425716	+	Frame_Shift_Ins	INS	-	-	C													ttagagggattggaggatgcINSccccccagttgagctacagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:35425714_35425715G>GC	uc003oko.1	+	3	1107_1108	c.922_923G>GC	c.(922-924)gccfs	p.A308fs	FANCE_uc010jvw.1_Frame_Shift_Ins_p.A308fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C	35425716	-	C	35425715	7	5	198	1	0	1	1	0	0	0	0	0	5666	739	26	0	937	0	FANCE	6	35425715	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	167608	35425715	135689352	468	109557											
MAPK13	5603	broad.mit.edu	37	chr6	36106213	36106213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttgtgcagaagctgaacGacaaagcggtgggtggtaaa	15	5	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:36106213G>A	uc003ols.2	+	9	852	c.754G>A	c.(754-756)GAC>AAC	p.D252N	MAPK13_uc003olt.2_Intron	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	252	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						GAAGCTGAACGACAAAGCGGT	0.602													A	36106213	G	A	36106213	3	1	198	1	0	0	0	0	1	0	0	0	9275	1058	37	1	788	1	MAPK13	6	36106213	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	680498	36106213	135008854	469	109558											
C6orf222	389384	broad.mit.edu	37	chr6	36298038	36298038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgggctttcttcctgaGggctggctcccctgctgctt	14	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:36298038G>T	uc003oly.2	-	2	608	c.430C>A	c.(430-432)CTC>ATC	p.L144I		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	144										skin(2)|ovary(1)|breast(1)	4						TTCTTCCTGAGGGCTGGCTCC	0.632													T	36298038	G	T	36298038	3	4	198	1	0	0	0	0	1	0	0	0	2356	1000	35	5	1572	5	C6orf222	6	36298038	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	191825	36298038	134817029	470	109559											
DNAH8	1769	broad.mit.edu	37	chr6	38903419	38903419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgttacttttaataagCggaagatgaaagaacttgaa	10	3	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:38903419C>T	uc003ooe.1	+	75	11458	c.10858C>T	c.(10858-10860)CGG>TGG	p.R3620W	DNAH8_uc003oog.1_Missense_Mutation_p.R69W|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTTTAATAAGCGGAAGATGAA	0.308													T	38903419	C	T	38903419	3	4	198	1	0	0	0	0	1	0	0	0	4607	759	27	1	11148	1	DNAH8	6	38903419	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2605381	38903419	132211648	471	109560											
TFEB	7942	broad.mit.edu	37	chr6	41657475	41657475	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagccaggagtaccgtgttGggcatctgcatttcaggatt	12	9	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:41657475G>T	uc003oqs.1	-	5	845	c.543C>A	c.(541-543)CCC>CCA	p.P181P	TFEB_uc003oqt.1_Silent_p.P181P|TFEB_uc003oqu.1_Silent_p.P195P|TFEB_uc003oqv.1_Silent_p.P181P|TFEB_uc010jxo.1_Silent_p.P181P|TFEB_uc003oqr.1_Silent_p.P96P	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	181					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			ovary(1)	1	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)			GTACCGTGTTGGGCATCTGCA	0.542			T	ALPHA	renal (childhood epithelioid)								T	41657475	G	T	41657475	2	4	198	1	0	0	0	0	0	0	0	1	15798	1335	47	5		5	TFEB	6	41657475	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2754056	41657475	129457592	472	109561											
TRERF1	55809	broad.mit.edu	37	chr6	42231171	42231171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgggcgggagaagctTgacagggacagacacgggca	19	8	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:42231171T>C	uc003osd.2	-	8	2334	c.1771A>G	c.(1771-1773)AAG>GAG	p.K591E	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.K591E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	591	Pro-rich.|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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGAGAAGCTTGACAGGGACA	0.473													C	42231171	T	C	42231171	3	2	198	1	0	0	0	0	1	0	0	0	16472	1821	63	3	1875	3	TRERF1	6	42231171	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	573696	42231171	128883896	473	109562											
PTK7	5754	broad.mit.edu	37	chr6	43114416	43114416	+	Frame_Shift_Del	DEL	C	C	-													atgaaaaattgaagtcacagCccctcagcaccaagcagaag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43114415_43114415GC>G	uc011dve.1	+	16	2766	c.2724_2724GC>G	c.(2722-2724)cagfs	p.Q908fs	PTK7_uc003oub.1_Frame_Shift_Del_p.Q900fs|PTK7_uc003ouc.1_Frame_Shift_Del_p.Q844fs|PTK7_uc003oud.1_Frame_Shift_Del_p.Q860fs|PTK7_uc003oue.1_Frame_Shift_Del_p.Q770fs|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Frame_Shift_Del_p.Q226fs	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	900	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGAAGTCACAGCCCCTCAGCA	0.557													-	43114416	C	-	43114416	7	5	198	1	0	1	0	1	0	0	0	0	12765	739	26	0	2767	0	PTK7	6	43114416	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	883245	43114416	128000651	474	109563											
CUL9	23113	broad.mit.edu	37	chr6	43155673	43155673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggagtccaagtcggagGccagcttctcagaggaagag	15	8	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43155673G>A	uc003ouk.2	+	7	1879	c.1804G>A	c.(1804-1806)GCC>ACC	p.A602T	CUL9_uc003ouj.1_Missense_Mutation_p.A492T|CUL9_uc003oul.2_Missense_Mutation_p.A602T|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Missense_Mutation_p.A60T	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	602					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CAAGTCGGAGGCCAGCTTCTC	0.562													A	43155673	G	A	43155673	3	1	198	1	0	0	0	0	1	0	0	0	4061	1203	42	2	1826	2	CUL9	6	43155673	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	41257	43155673	127959394	475	109564											
CUL9	23113	broad.mit.edu	37	chr6	43181594	43181594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgagctgtcttcttgttCgtattctcaaagcccatggg	9	10	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43181594C>T	uc003ouk.2	+	29	5707	c.5632C>T	c.(5632-5634)CGT>TGT	p.R1878C	CUL9_uc003oul.2_Missense_Mutation_p.R1850C|CUL9_uc010jyk.2_Missense_Mutation_p.R1030C|CUL9_uc003oun.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1878					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TCTTCTTGTTCGTATTCTCAA	0.542													T	43181594	C	T	43181594	3	4	198	1	0	0	0	0	1	0	0	0	4061	884	31	1	5742	1	CUL9	6	43181594	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	25921	43181594	127933473	476	109565											
ABCC10	89845	broad.mit.edu	37	chr6	43415559	43415559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttgggcatcgtgggccgCacaggctccggcaagtcttc	14	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43415559C>T	uc003ouy.1	+	18	4058	c.3843C>T	c.(3841-3843)CGC>CGT	p.R1281R	ABCC10_uc003ouz.1_Silent_p.R1253R|ABCC10_uc010jyo.1_Silent_p.R387R	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1281	ABC transporter 2.|ATP 2 (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(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)			TCGTGGGCCGCACAGGCTCCG	0.647													T	43415559	C	T	43415559	2	4	198	1	0	0	0	0	0	0	0	1	50	697	25	2		2	ABCC10	6	43415559	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	233965	43415559	127699508	477	109566											
RUNX2	860	broad.mit.edu	37	chr6	45399611	45399611	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatgtaggtggtagccctCggagaggtaccagatgggac	15	7	0	2	rs147760046		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:45399611C>T	uc011dvx.1	+	4	645	c.435C>T	c.(433-435)CTC>CTT	p.L145L	RUNX2_uc011dvy.1_Silent_p.L145L|RUNX2_uc003oxt.2_Silent_p.L131L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	145	Runt.				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			ovary(2)|skin(1)	3						TGGTAGCCCTCGGAGAGGTAC	0.433													T	45399611	C	T	45399611	2	4	198	1	0	0	0	0	0	0	0	1	13748	871	31	1		1	RUNX2	6	45399611	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1984052	45399611	125715456	478	109567											
TNFRSF21	27242	broad.mit.edu	37	chr6	47253992	47253992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggacacaccgtatgggGggcacaggtagcgttagact	14	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:47253992G>A	uc003oyv.2	-	2	869	c.436C>T	c.(436-438)CCC>TCC	p.P146S		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	146	Extracellular (Potential).|TNFR-Cys 3.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			ACCGTATGGGGGGCACAGGTA	0.547													A	47253992	G	A	47253992	3	1	198	1	0	0	0	0	1	0	0	0	16292	1232	43	4	1551	4	TNFRSF21	6	47253992	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1854381	47253992	123861075	479	109568											
GPR111	222611	broad.mit.edu	37	chr6	47650252	47650252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaatcagcaagaacatcGccatcctcacaccacttctg	6	14	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:47650252G>A	uc010jzj.1	+	6	1958	c.1957G>A	c.(1957-1959)GCC>ACC	p.A653T	GPR111_uc010jzk.1_Missense_Mutation_p.A585T|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	653	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CAAGAACATCGCCATCCTCAC	0.512													A	47650252	G	A	47650252	3	1	198	1	0	0	0	0	1	0	0	0	6628	1087	38	1	1771	1	GPR111	6	47650252	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	396260	47650252	123464815	480	109569											
DEFB113	245927	broad.mit.edu	37	chr6	49936566	49936566	+	Frame_Shift_Del	DEL	T	T	-													tctctctgcaacttctcttgTttttttctgtggaactagga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:49936566delT	uc011dwq.1	-	2	73	c.73delA	c.(73-75)ACAfs	p.T25fs		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	25					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					ACTTCTCTTGTTTTTTTCTGT	0.353													-	49936566	T	-	49936566	7	5	198	1	0	1	0	1	0	0	0	0	4402	1725	60	0	171	0	DEFB113	6	49936566	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	2286314	49936566	121178501	481	109570											
PKHD1	5314	broad.mit.edu	37	chr6	51897950	51897950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagtcacattcacaatgCgtccatctttcccctgaaaa	4	14	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:51897950C>T	uc003pah.1	-	29	3518	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H	PKHD1_uc003pai.2_Missense_Mutation_p.R1081H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1081	IPT/TIG 5.|Extracellular (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		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	p.R1081C(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					ATTCACAATGCGTCCATCTTT	0.363													T	51897950	C	T	51897950	3	4	198	1	0	0	0	0	1	0	0	0	11971	768	27	1	9177	1	PKHD1	6	51897950	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1961384	51897950	119217117	482	109571											
PKHD1	5314	broad.mit.edu	37	chr6	51913367	51913367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgtcgtctctgtgtcGtcaccaggaccagtccagat	10	14	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:51913367G>A	uc003pah.1	-	23	2606	c.2330C>T	c.(2329-2331)ACG>ATG	p.T777M	PKHD1_uc003pai.2_Missense_Mutation_p.T777M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	777	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTCTGTGTCGTCACCAGGAC	0.527													A	51913367	G	A	51913367	3	1	198	1	0	0	0	0	1	0	0	0	11971	1145	40	1	10113	1	PKHD1	6	51913367	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	15417	51913367	119201700	483	109572											
PKHD1	5314	broad.mit.edu	37	chr6	51930836	51930836	+	Frame_Shift_Del	DEL	C	C	-													taattgtgatgtttgttcttCccccaaggctcccagtttct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:51930835_51930835TC>T	uc003pah.1	-	11	1095	c.819_819GA>A	c.(817-819)ggafs	p.G273fs	PKHD1_uc003pai.3_Frame_Shift_Del_p.G273fs	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	273	IPT/TIG 3.				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)					TGTTTGTTCTTCCCCCAAGGC	0.353													-	51930836	C	-	51930836	7	5	198	1	0	1	0	1	0	0	0	0	11971	855	30	0	11669	0	PKHD1	6	51930836	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	17469	51930836	119184231	484	109573											
GCM1	8521	broad.mit.edu	37	chr6	52999038	52999038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagctgctcaggtgccGctgcgcattcttgtcctccg	12	16	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:52999038G>A	uc003pbp.2	-	3	369	c.160C>T	c.(160-162)CGG>TGG	p.R54W	GCM1_uc010jzr.2_Missense_Mutation_p.R54W	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	54	GCM.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					CTCAGGTGCCGCTGCGCATTC	0.547													A	52999038	G	A	52999038	3	1	198	1	0	0	0	0	1	0	0	0	6297	1086	38	1	1166	1	GCM1	6	52999038	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1068202	52999038	118116029	485	109574											
PHF3	23469	broad.mit.edu	37	chr6	64423103	64423103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtatgatgggtcctctctcAcaagcatcaaggtatatagg	10	9	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:64423103A>G	uc003pep.1	+	15	5645	c.5619A>G	c.(5617-5619)TCA>TCG	p.S1873S	PHF3_uc003pen.2_Silent_p.S1785S|PHF3_uc011dxs.1_Silent_p.S1142S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1873					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			GTCCTCTCTCACAAGCATCAA	0.527													G	64423103	A	G	64423103	2	3	198	1	0	0	0	0	0	0	0	1	11836	146	6	3		3	PHF3	6	64423103	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	11424065	64423103	106691964	486	109575											
COL9A1	1297	broad.mit.edu	37	chr6	70942332	70942332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggggccccttaatgccCggaaggccacgaattcccat	11	15	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:70942332C>T	uc003pfg.3	-	36	2616	c.2457G>A	c.(2455-2457)CCG>CCA	p.P819P	COL9A1_uc003pfe.3_Silent_p.P368P|COL9A1_uc003pff.3_Silent_p.P576P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	819	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CCTTAATGCCCGGAAGGCCAC	0.572													T	70942332	C	T	70942332	2	4	198	1	0	0	0	0	0	0	0	1	3707	639	23	1		1	COL9A1	6	70942332	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6519229	70942332	100172735	487	109576											
RIMS1	22999	broad.mit.edu	37	chr6	72809676	72809678	+	Splice_Site	DEL	AGG	AGG	-													ttccttggatgctttcccaaAggaggacaaagtggttagaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:72809675_72809677AAGG>A	uc003pga.3	+	4	537	c.460_splice	c.e4-1	p.E154_splice		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	154	RabBD.				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	Rab GTPase binding|metal ion 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)				TGCTTTCCCAAAGGAGGACAAAG	0.296													-	72809678	AGG	-	72809676	8	5	198	1	0	1	0	1	0	0	1	0	13367	86	3	0	472	0	RIMS1	6	72809676	Splice_Site	DEL	AGG	TCGA-CG-5733-01A-11D-1600-08	1867344	72809676	98305391	488	109577											
CD109	135228	broad.mit.edu	37	chr6	74492413	74492414	+	Frame_Shift_Ins	INS	-	-	G													atattcatgacttttctttgINSggtagcagtccacatgtccg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:74492412_74492413T>TG	uc003php.3	+	17	2470_2471	c.2039_2040T>TG	c.(2038-2040)ttgfs	p.L680fs	CD109_uc003phq.3_Frame_Shift_Ins_p.L680fs|CD109_uc010kba.3_Frame_Shift_Ins_p.L603fs	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	680	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						GACTTTTCTTTGGGTAGCAGTC	0.356													G	74492414	-	G	74492413	7	5	198	1	0	1	1	0	0	0	0	0	2963	1339	47	0	2110	0	CD109	6	74492413	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1682737	74492413	96622654	489	109578											
COL12A1	1303	broad.mit.edu	37	chr6	75843658	75843658	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatggtcccagcggacattCaaggtgctggtagaagggtc	15	9	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:75843658C>A	uc003phs.2	-	33	5746	c.5580G>T	c.(5578-5580)TTG>TTT	p.L1860F	COL12A1_uc003pht.2_Missense_Mutation_p.L696F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1860	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AGCGGACATTCAAGGTGCTGG	0.453													A	75843658	C	A	75843658	3	1	198	1	0	0	0	0	1	0	0	0	3669	825	29	5	3747	5	COL12A1	6	75843658	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1351245	75843658	95271409	490	109579											
PHIP	55023	broad.mit.edu	37	chr6	79655834	79655834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactcggttgcttctggttCgaaccacagaactagattct	8	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:79655834C>T	uc003pir.2	-	38	4740	c.4514G>A	c.(4513-4515)CGA>CAA	p.R1505Q	PHIP_uc003piq.2_Missense_Mutation_p.R529Q|PHIP_uc011dyp.1_Missense_Mutation_p.R1504Q|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.R391Q	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1505					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			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		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)		GCTTCTGGTTCGAACCACAGA	0.433													T	79655834	C	T	79655834	3	4	198	1	0	0	0	0	1	0	0	0	11842	884	31	1	963	1	PHIP	6	79655834	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3812176	79655834	91459233	491	109580											
PHIP	55023	broad.mit.edu	37	chr6	79770253	79770253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtcttccacagtgcaaCgcagccagagcagatccttt	11	12	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:79770253C>T	uc003pir.2	-	6	607	c.381G>A	c.(379-381)GCG>GCA	p.A127A	PHIP_uc011dyp.1_Silent_p.A127A	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	127					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			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		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)		CACAGTGCAACGCAGCCAGAG	0.413													T	79770253	C	T	79770253	2	4	198	1	0	0	0	0	0	0	0	1	11842	523	19	1		1	PHIP	6	79770253	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	114419	79770253	91344814	492	109581											
IBTK	25998	broad.mit.edu	37	chr6	82924027	82924028	+	Frame_Shift_Ins	INS	-	-	T													cttccctaatattttttcctINStttttacaagatttaggttt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:82924026_82924027C>CT	uc003pjl.1	-	11	2648_2649	c.2121_2122G>AG	c.(2119-2124)aaaggafs	p.K707fs	IBTK_uc011dyv.1_Frame_Shift_Ins_p.K707fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Ins_p.K401fs|IBTK_uc003pjm.2_Frame_Shift_Ins_p.K707fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	707					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)		ATATTTTTTCCTTTTTTACAAG	0.327													T	82924028	-	T	82924027	7	5	198	1	0	1	1	0	0	0	0	0	7476	1606	56	0	2012	0	IBTK	6	82924027	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	3153774	82924027	88191040	493	109582											
IBTK	25998	broad.mit.edu	37	chr6	82949974	82949974	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctttcaccaacagaTccactcctttctgaataagc	4	13	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:82949974T>A	uc003pjl.1	-	2	757	c.230A>T	c.(229-231)GAT>GTT	p.D77V	IBTK_uc011dyv.1_Missense_Mutation_p.D77V|IBTK_uc011dyw.1_Missense_Mutation_p.D77V|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.D77V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	77	ANK 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		CACCAACAGATCCACTCCTTT	0.418													A	82949974	T	A	82949974	3	1	198	1	0	0	0	0	1	0	0	0	7476	1435	50	5	3943	5	IBTK	6	82949974	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	25947	82949974	88165093	494	109583											
IBTK	25998	broad.mit.edu	37	chr6	82950191	82950191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgtgcagtcaggcaTgggtgaactcatcctaactg	11	9	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:82950191T>C	uc003pjl.1	-	2	540	c.13A>G	c.(13-15)ATG>GTG	p.M5V	IBTK_uc011dyv.1_Missense_Mutation_p.M5V|IBTK_uc011dyw.1_Missense_Mutation_p.M5V|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.M5V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	5					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		CAGTCAGGCATGGGTGAACTC	0.413													C	82950191	T	C	82950191	3	2	198	1	0	0	0	0	1	0	0	0	7476	1464	51	3	4160	3	IBTK	6	82950191	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	217	82950191	88164876	495	109584											
DOPEY1	23033	broad.mit.edu	37	chr6	83877831	83877831	+	Frame_Shift_Del	DEL	A	A	-													atgttccagcaaagccaggcAaaaaatagaagagatggtag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:83877830_83877830CA>C	uc011dyy.2	+	39	7635	c.7375_7375CA>C	c.(7375-7377)caafs	p.Q2459fs	PGM3_uc003pju.2_3'UTR|PGM3_uc003pjw.3_3'UTR|PGM3_uc011dyz.2_3'UTR|PGM3_uc021zcd.1_Intron|DOPEY1_uc003pjs.1_Frame_Shift_Del_p.Q2448fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.Q2439fs|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2448					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)		CAAAGCCAGGCAAAAAATAGA	0.398													-	83877831	A	-	83877831	7	5	198	1	0	1	0	1	0	0	0	0	4707	130	5	0	7489	0	DOPEY1	6	83877831	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	927640	83877831	87237236	496	109585											
PGM3	5238	broad.mit.edu	37	chr6	83884156	83884156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttcttatcttccagTtgttctgctgattgttttat	5	7	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:83884156T>A	uc003pjv.2	-	10	1219	c.1179A>T	c.(1177-1179)CAA>CAT	p.Q393H	PGM3_uc003pjw.2_Missense_Mutation_p.Q312H|PGM3_uc011dyz.1_Missense_Mutation_p.Q421H	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	393					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TATCTTCCAGTTGTTCTGCTG	0.373													A	83884156	T	A	83884156	3	1	198	1	0	0	0	0	1	0	0	0	11800	1722	60	5	465	5	PGM3	6	83884156	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	6325	83884156	87230911	497	109586											
TBX18	9096	broad.mit.edu	37	chr6	85472393	85472393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggccagggagcgcgcCggagaccccttgggggagcc	20	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:85472393C>T	uc003pkl.1	-	2	366	c.366G>A	c.(364-366)CCG>CCA	p.P122P	TBX18_uc010kbq.1_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	122					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P122L(1)		ovary(2)|pancreas(2)|lung(1)	5		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)		GGGAGCGCGCCGGAGACCCCT	0.697													T	85472393	C	T	85472393	2	4	198	1	0	0	0	0	0	0	0	1	15650	639	23	1		1	TBX18	6	85472393	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1588237	85472393	85642674	498	109587											
HTR1E	3354	broad.mit.edu	37	chr6	87725557	87725557	+	Frame_Shift_Del	DEL	C	C	-													gccaccgccgcctaagccctCcccctagtcagtgcaccatc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:87725556_87725556TC>T	uc003pli.3	+	1	1207	c.504_504TC>T	c.(502-504)cctfs	p.P168fs	HTR1E_uc021zcg.1_Frame_Shift_Del_p.P168fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	168					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)	GCCTAAGCCCTCCCCCTAGTC	0.542													-	87725557	C	-	87725557	7	5	198	1	0	1	0	1	0	0	0	0	7439	855	30	0	507	0	HTR1E	6	87725557	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	2253164	87725557	83389510	499	109588											
RARS2	57038	broad.mit.edu	37	chr6	88239291	88239291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggagtcctttactctccaGcaactttaagacctcttgag	7	11	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:88239291G>A	uc003pme.2	-	10	907	c.847C>T	c.(847-849)CTG>TTG	p.L283L	RARS2_uc003pmb.2_Silent_p.L108L|RARS2_uc003pmc.2_Silent_p.L108L|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	283					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		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)		TTACTCTCCAGCAACTTTAAG	0.313													A	88239291	G	A	88239291	2	1	198	1	0	0	0	0	0	0	0	1	13059	962	34	2		2	RARS2	6	88239291	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	513734	88239291	82875776	500	109589											
GABRR1	2569	broad.mit.edu	37	chr6	89890064	89890064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtggtcaggtagttgaCggccgcatactccagcaccg	12	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:89890064C>T	uc003pna.2	-	9	1548	c.1093G>A	c.(1093-1095)GTC>ATC	p.V365I	GABRR1_uc011dzv.1_Missense_Mutation_p.V342I	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	365	Helical; (Probable).				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			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGGTAGTTGACGGCCGCATAC	0.557													T	89890064	C	T	89890064	3	4	198	1	0	0	0	0	1	0	0	0	6176	536	19	1	354	1	GABRR1	6	89890064	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1650773	89890064	81225003	501	109590											
EPHA7	2045	broad.mit.edu	37	chr6	94068094	94068094	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaacgagagcactgaagatCttgagaggaagacttgtaga	12	6	1	6			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:94068094C>A	uc003poe.2	-	4	1109	c.868G>T	c.(868-870)GAT>TAT	p.D290Y	EPHA7_uc003pof.2_Missense_Mutation_p.D290Y|EPHA7_uc011eac.1_Missense_Mutation_p.D290Y	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	290	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		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)		CACTGAAGATCTTGAGAGGAA	0.428													A	94068094	C	A	94068094	3	1	198	1	0	0	0	0	1	0	0	0	5172	913	32	5	2184	5	EPHA7	6	94068094	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4178030	94068094	77046973	502	109591											
POPDC3	64208	broad.mit.edu	37	chr6	105609533	105609533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgaagcagatgacaaaCagtacaaaattccaggaaaa	8	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:105609533C>T	uc003prb.2	-	2	654	c.252G>A	c.(250-252)CTG>CTA	p.L84L	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	84	Helical; (Potential).					integral to membrane				skin(3)|ovary(2)	5		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)				AGATGACAAACAGTACAAAAT	0.433													T	105609533	C	T	105609533	2	4	198	1	0	0	0	0	0	0	0	1	12256	465	17	4		4	POPDC3	6	105609533	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	11541439	105609533	65505534	503	109592											
AIM1	202	broad.mit.edu	37	chr6	106967902	106967902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctttgtccacagagcGtagtccagaagctgtgggaa	11	12	0	2	rs139571922	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:106967902G>A	uc003prh.2	+	2	2082	c.1595G>A	c.(1594-1596)CGT>CAT	p.R532H		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	532							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	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)		TCCACAGAGCGTAGTCCAGAA	0.522													A	106967902	G	A	106967902	3	1	198	1	0	0	0	0	1	0	0	0	430	1145	40	1	1601	1	AIM1	6	106967902	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1358369	106967902	64147165	504	109593											
BEND3	57673	broad.mit.edu	37	chr6	107390480	107390480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccggcagcgctcatccaGtttgcccacgaactccaggg	12	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:107390480G>A	uc003prs.2	-	5	2565	c.1915C>T	c.(1915-1917)CTG>TTG	p.L639L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	639	BEN 3.									ovary(3)	3						CGCTCATCCAGTTTGCCCACG	0.657													A	107390480	G	A	107390480	2	1	198	1	0	0	0	0	0	0	0	1	1399	1020	36	4		4	BEND3	6	107390480	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	422578	107390480	63724587	505	109594											
BEND3	57673	broad.mit.edu	37	chr6	107390687	107390687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgaggcgaagttgccgaTggacaggctgctctcgtaga	16	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:107390687T>C	uc003prs.2	-	5	2358	c.1708A>G	c.(1708-1710)ATC>GTC	p.I570V		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	570	BEN 3.									ovary(3)	3						AAGTTGCCGATGGACAGGCTG	0.627													C	107390687	T	C	107390687	3	2	198	1	0	0	0	0	1	0	0	0	1399	1464	51	3	782	3	BEND3	6	107390687	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	207	107390687	63724380	506	109595											
MICAL1	64780	broad.mit.edu	37	chr6	109786988	109786988	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagcctgatttcaagcGttcaaaatccagtcagagct	10	9	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:109786988G>A	uc011eaq.1	-	1	184	c.-107C>T	c.(-109--105)AACGC>AATGC		ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_3'UTR|ZBTB24_uc003ptl.1_3'UTR|ZBTB24_uc010kdt.1_RNA	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin						cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GATTTCAAGCGTTCAAAATCC	0.493													A	109786988	G	A	109786988	1	1	198	1	0	0	0	0	0	0	0	0	9569	1160	40	1		1	MICAL1	6	109786988	Translation_Start_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2396301	109786988	61328079	507	109596											
SLC16A10	117247	broad.mit.edu	37	chr6	111527861	111527861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctcatgtgcattggcGtcacttcaggagttggacga	12	8	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:111527861G>A	uc003pus.2	+	4	1184	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	SLC16A10_uc003put.2_Missense_Mutation_p.V23I	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	337	Helical; (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		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)		GTGCATTGGCGTCACTTCAGG	0.388													A	111527861	G	A	111527861	3	1	198	1	0	0	0	0	1	0	0	0	14403	1145	40	1	1023	1	SLC16A10	6	111527861	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1740873	111527861	59587206	508	109597											
REV3L	5980	broad.mit.edu	37	chr6	111695488	111695488	+	Frame_Shift_Del	DEL	T	T	-													gattggaaaggtcaaatataTttttttgaattaacgttgat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:111695487_111695487AT>A	uc003puy.4	-	12	4412	c.4071_4071AT>T	c.(4069-4071)aatfs	p.N1357fs	REV3L_uc003pux.4_Frame_Shift_Del_p.N1279fs|REV3L_uc003puz.4_Frame_Shift_Del_p.N1279fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1357					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)		GGTCAAATATATTTTTTTGAA	0.308								DNA polymerases (catalytic subunits)					-	111695488	T	-	111695488	7	5	198	1	0	1	0	1	0	0	0	0	13240	1493	52	0	5402	0	REV3L	6	111695488	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	167627	111695488	59419579	509	109598											
REV3L	5980	broad.mit.edu	37	chr6	111695520	111695520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgttgattcctttagagtAaacatagcactttgattatg	7	6	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:111695520A>G	uc003puy.3	-	13	4361	c.4038T>C	c.(4036-4038)TTT>TTC	p.F1346F	REV3L_uc003pux.3_Silent_p.F1268F|REV3L_uc003puz.3_Silent_p.F1268F	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1346					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CCTTTAGAGTAAACATAGCAC	0.338								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	111695520	A	G	111695520	2	3	198	1	0	0	0	0	0	0	0	1	13240	359	13	3		3	REV3L	6	111695520	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	32	111695520	59419547	510	109599											
COL10A1	1300	broad.mit.edu	37	chr6	116442752	116442752	+	Frame_Shift_Del	DEL	T	T	-													cagggactcctggtgcacccTtttctccaggaaagcccctg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:116442751_116442751CT>C	uc003pwm.3	-	2	624	c.528_528AG>G	c.(526-528)aagfs	p.K176fs	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	176	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)		CTGGTGCACCCTTTTCTCCAG	0.592													-	116442752	T	-	116442752	7	5	198	1	0	1	0	1	0	0	0	0	3666	1609	56	0	1519	0	COL10A1	6	116442752	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	4747232	116442752	54672315	511	109600											
DSE	29940	broad.mit.edu	37	chr6	116758028	116758028	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttgccatatcacagcaAcagcagcagcaaagcaagtc	7	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:116758028A>G	uc003pws.2	+	6	2591	c.2397A>G	c.(2395-2397)CAA>CAG	p.Q799Q	DSE_uc011ebg.1_Silent_p.Q818Q|DSE_uc003pwt.2_Silent_p.Q799Q|DSE_uc003pwu.2_Silent_p.Q466Q	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	799					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATCACAGCAACAGCAGCAGC	0.443													G	116758028	A	G	116758028	2	3	198	1	0	0	0	0	0	0	0	1	4774	40	2	3		3	DSE	6	116758028	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	315276	116758028	54357039	512	109601											
RFX6	222546	broad.mit.edu	37	chr6	117198978	117198978	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgcacttaaacaatggTaacttttcctctgaagaaga	7	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:117198978T>C	uc003pxm.2	+	2	306	c.243T>C	c.(241-243)GGT>GGC	p.G81G		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	81					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			ovary(1)|pancreas(1)|skin(1)	3						TAAACAATGGTAACTTTTCCT	0.393													C	117198978	T	C	117198978	2	2	198	1	0	0	0	0	0	0	0	1	13267	1625	57	3		3	RFX6	6	117198978	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	440950	117198978	53916089	513	109602											
TRDN	10345	broad.mit.edu	37	chr6	123673709	123673709	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccactgtcttggttgttttCtcttccttctttccaggtac	6	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:123673709C>A	uc003pzj.1	-	21	1366	c.1344G>T	c.(1342-1344)GAG>GAT	p.E448D	TRDN_uc003pzk.1_Missense_Mutation_p.E449D|TRDN_uc003pzl.1_Missense_Mutation_p.E449D|TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	448	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		TGGTTGTTTTCTCTTCCTTCT	0.378													A	123673709	C	A	123673709	3	1	198	1	0	0	0	0	1	0	0	0	16465	912	32	5	929	5	TRDN	6	123673709	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6474731	123673709	47441358	514	109603											
HEY2	23493	broad.mit.edu	37	chr6	126080753	126080753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcagcagccaccgcGgctgcacacagcttccctct	10	19	1	0	rs34745209	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:126080753G>A	uc003qad.2	+	5	1010	c.819G>A	c.(817-819)GCG>GCA	p.A273A	HEY2_uc011ebr.1_Silent_p.A227A	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	273	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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCCACCGCGGCTGCACACA	0.697													A	126080753	G	A	126080753	2	1	198	1	0	0	0	0	0	0	0	1	7079	1103	39	1		1	HEY2	6	126080753	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2407044	126080753	45034314	515	109604											
C6orf174	387104	broad.mit.edu	37	chr6	127796641	127796641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgttggccacgtagatgcGcgcctcggtgatgatggtgc	15	12	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:127796641G>A	uc003qbd.2	-	6	3395	c.2530C>T	c.(2530-2532)CGC>TGC	p.R844C	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	844						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		ACGTAGATGCGCGCCTCGGTG	0.652													A	127796641	G	A	127796641	3	1	198	1	0	0	0	0	1	0	0	0	2345	1087	38	1	321	1	C6orf174	6	127796641	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1715888	127796641	43318426	516	109605											
L3MBTL3	84456	broad.mit.edu	37	chr6	130407306	130407306	+	Frame_Shift_Del	DEL	A	A	-													aacctcctcatggattccagAaaaaaatgaagcttgaggtt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:130407305_130407305GA>G	uc003qbt.3	+	15	1604	c.1428_1428GA>G	c.(1426-1428)cagfs	p.Q476fs	L3MBTL3_uc003qbu.3_Frame_Shift_Del_p.Q451fs	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	476					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)		ATGGATTCCAGAAAAAAATGA	0.373													-	130407306	A	-	130407306	7	5	198	1	0	1	0	1	0	0	0	0	8593	247	9	0	1483	0	L3MBTL3	6	130407306	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	2610665	130407306	40707761	517	109606											
AKAP7	9465	broad.mit.edu	37	chr6	131486329	131486329	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattaccctgctggtgatgCaattattaaatgaagatgaa	8	5	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131486329C>T	uc003qck.2	+	4	433	c.400C>T	c.(400-402)CAA>TAA	p.Q134*	AKAP7_uc011ebz.1_Nonsense_Mutation_p.Q112*|AKAP7_uc003qcl.1_Nonsense_Mutation_p.Q15*	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GCTGGTGATGCAATTATTAAA	0.343													T	131486329	C	T	131486329	4	4	198	1	0	0	0	0	0	1	0	0	456	711	25	2	344	2	AKAP7	6	131486329	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1079023	131486329	39628738	518	109607											
ARG1	383	broad.mit.edu	37	chr6	131894346	131894346	+	Splice_Site	DEL	A	A	-													ttcaacccaagtataaatggAaaaaaaagatgcgccctctg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131894345_131894345GA>G	uc003qcp.2	+	1	1	c.-78_splice	c.e1-1		ARG1_uc003qco.2_Splice_Site|ARG1_uc010kfm.2_Splice_Site	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.						arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AGTATAAATGGAAAAAAAAGA	0.443													-	131894346	A	-	131894346	8	5	198	1	0	1	0	1	0	0	1	0	857	261	9	0		0	ARG1	6	131894346	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	408017	131894346	39220721	519	109608											
MED23	9439	broad.mit.edu	37	chr6	131948626	131948626	+	Splice_Site	DEL	A	A	-													ggagtatccataaacatgctAaaaaaataaaaattacatta							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131948625_131948625TA>T	uc003qcs.1	-	3	246	c.72_splice	c.e3-1	p.G24_splice	ENPP3_uc010kfn.1_5'Flank|ENPP3_uc003qcu.4_5'Flank|MED23_uc003qcq.3_Splice_Site_p.G24_splice|MED23_uc003qct.1_Splice_Site_p.G24_splice|MED23_uc011ecb.1_Splice_Site	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	24					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)		ATAAACATGCTAAAAAAATAA	0.348													-	131948626	A	-	131948626	8	5	198	1	0	1	0	1	0	0	1	0	9441	377	13	0		0	MED23	6	131948626	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	54280	131948626	39166441	520	109609											
TAAR6	319100	broad.mit.edu	37	chr6	132891923	132891923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaggaatttgcatcagcGtgtcctggatcctgcccctc	10	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:132891923G>A	uc011eck.1	+	1	463	c.463G>A	c.(463-465)GTG>ATG	p.V155M		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	155	Helical; Name=4; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTGCATCAGCGTGTCCTGGAT	0.502													A	132891923	G	A	132891923	3	1	198	1	0	0	0	0	1	0	0	0	15489	1145	40	1	465	1	TAAR6	6	132891923	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	943297	132891923	38223144	521	109610											
SLC2A12	154091	broad.mit.edu	37	chr6	134349987	134349987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgctaatgaccttgaCgactccaaccccagtggagg	12	11	0	2	rs151202816		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:134349987C>T	uc003qem.1	-	2	1147	c.976G>A	c.(976-978)GTC>ATC	p.V326I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	326	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ATGACCTTGACGACTCCAACC	0.493													T	134349987	C	T	134349987	3	4	198	1	0	0	0	0	1	0	0	0	14541	536	19	1	893	1	SLC2A12	6	134349987	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1458064	134349987	36765080	522	109611											
AHI1	54806	broad.mit.edu	37	chr6	135787084	135787084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttctttcttattttcCtcttaatctcctttgccatt	2	11	5	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:135787084C>A	uc003qgi.2	-	7	1001	c.617G>T	c.(616-618)AGG>ATG	p.R206M	AHI1_uc003qgh.2_Missense_Mutation_p.R206M|AHI1_uc003qgj.2_Missense_Mutation_p.R206M|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R206M	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	206						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCTTATTTTCCTCTTAATCTC	0.353													A	135787084	C	A	135787084	3	1	198	1	0	0	0	0	1	0	0	0	413	681	24	5	3122	5	AHI1	6	135787084	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1437097	135787084	35327983	523	109612											
GPR126	57211	broad.mit.edu	37	chr6	142691311	142691311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgttttgtcctagttgcCgtgtccttaaggaatcaaaa	8	7	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:142691311C>T	uc010khc.2	+	4	861	c.450C>T	c.(448-450)GCC>GCT	p.A150A	GPR126_uc010khd.2_Silent_p.A150A|GPR126_uc010khe.2_Silent_p.A150A|GPR126_uc010khf.2_Silent_p.A150A|GPR126_uc003qix.2_Silent_p.A150A	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	150	Pentaxin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCCTAGTTGCCGTGTCCTTAA	0.403													T	142691311	C	T	142691311	2	4	198	1	0	0	0	0	0	0	0	1	6640	639	23	1		1	GPR126	6	142691311	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6904227	142691311	28423756	524	109613											
PHACTR2	9749	broad.mit.edu	37	chr6	144093509	144093509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaggccacagggaataCcaagccaatgactctgactc	10	11	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:144093509C>T	uc003qjq.3	+	7	1444	c.1314C>T	c.(1312-1314)TAC>TAT	p.Y438Y	PHACTR2_uc010khh.2_Silent_p.Y358Y|PHACTR2_uc010khi.2_Silent_p.Y449Y|PHACTR2_uc003qjr.3_Silent_p.Y369Y	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	438							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACAGGGAATACCAAGCCAATG	0.512													T	144093509	C	T	144093509	2	4	198	1	0	0	0	0	0	0	0	1	11810	518	18	4		4	PHACTR2	6	144093509	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1402198	144093509	27021558	525	109614											
LTV1	84946	broad.mit.edu	37	chr6	144183260	144183260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgtaaaattgaataccCttgaacccttggaggatcaa	9	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:144183260C>A	uc003qjs.2	+	8	1050	c.943C>A	c.(943-945)CTT>ATT	p.L315I	LTV1_uc003qju.1_Missense_Mutation_p.L100I|C6orf94_uc010khj.2_Intron|C6orf94_uc010khk.2_5'Flank|C6orf94_uc011edy.1_5'Flank	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	315										ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ATTGAATACCCTTGAACCCTT	0.378													A	144183260	C	A	144183260	3	1	198	1	0	0	0	0	1	0	0	0	9081	681	24	5	973	5	LTV1	6	144183260	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	89751	144183260	26931807	526	109615											
SHPRH	257218	broad.mit.edu	37	chr6	146266640	146266640	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaattaaacatttcagcatCcgtttcaaaagactcctgtt	4	9	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:146266640C>T	uc003qlf.2	-	8	1854	c.1455G>A	c.(1453-1455)CGG>CGA	p.R485R	SHPRH_uc003qld.2_Silent_p.R485R|SHPRH_uc003qle.2_Silent_p.R485R|SHPRH_uc003qlg.1_Silent_p.R41R|SHPRH_uc003qlj.1_Silent_p.R374R	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	485	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATTTCAGCATCCGTTTCAAAA	0.358													T	146266640	C	T	146266640	2	4	198	1	0	0	0	0	0	0	0	1	14291	842	30	4		4	SHPRH	6	146266640	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2083380	146266640	24848427	527	109616											
LATS1	9113	broad.mit.edu	37	chr6	150004580	150004580	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccttgatagtttggagCttcagcaacaggtggcatca	12	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:150004580C>A	uc003qmu.1	-	4	2193	c.1645G>T	c.(1645-1647)GCT>TCT	p.A549S	LATS1_uc010kif.1_Missense_Mutation_p.A444S|LATS1_uc003qmv.1_Missense_Mutation_p.A549S|LATS1_uc003qmw.2_Missense_Mutation_p.A549S|LATS1_uc010kig.1_Missense_Mutation_p.A444S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	549	Interaction with YAP1.				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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAGTTTGGAGCTTCAGCAACA	0.483													A	150004580	C	A	150004580	3	1	198	1	0	0	0	0	1	0	0	0	8646	797	28	5	1767	5	LATS1	6	150004580	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3737940	150004580	21110487	528	109617											
PLEKHG1	57480	broad.mit.edu	37	chr6	151151939	151151939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattatcagatgttcgtgccGtcattttcctcctcagatct	7	11	4	2	rs141197193	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:151151939G>A	uc003qny.1	+	16	2004	c.1692G>A	c.(1690-1692)CCG>CCA	p.P564P	PLEKHG1_uc011eel.1_Silent_p.P604P|PLEKHG1_uc011eem.1_Silent_p.P623P|PLEKHG1_uc003qnz.2_Silent_p.P564P	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	564					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGTTCGTGCCGTCATTTTCCT	0.507													A	151151939	G	A	151151939	2	1	198	1	0	0	0	0	0	0	0	1	12068	1132	40	1		1	PLEKHG1	6	151151939	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1147359	151151939	19963128	529	109618											
ZBTB2	57621	broad.mit.edu	37	chr6	151687420	151687420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccggagagtgaagcgccGtccacacaggtggcaggcat	15	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:151687420G>A	uc003qoh.2	-	3	916	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	261	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGAAGCGCCGTCCACACAGG	0.557													A	151687420	G	A	151687420	3	1	198	1	0	0	0	0	1	0	0	0	17525	1144	40	1	767	1	ZBTB2	6	151687420	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	535481	151687420	19427647	530	109619											
SYNE1	23345	broad.mit.edu	37	chr6	152453304	152453304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatgtgggactcacagAccctgaggtgtccagttcat	11	11	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:152453304A>G	uc010kiw.2	-	144	26649	c.26047T>C	c.(26047-26049)TCT>CCT	p.S8683P	SYNE1_uc010kiv.2_Missense_Mutation_p.S3207P|SYNE1_uc003qos.3_Missense_Mutation_p.S3207P|SYNE1_uc003qot.3_Missense_Mutation_p.S8635P|SYNE1_uc003qou.3_Missense_Mutation_p.S8683P|SYNE1_uc003qop.3_Missense_Mutation_p.S868P|SYNE1_uc011eez.1_Missense_Mutation_p.S885P|SYNE1_uc003qoq.3_Missense_Mutation_p.S885P|SYNE1_uc003qor.3_Missense_Mutation_p.S1606P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8683	Ser-rich.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGACTCACAGACCCTGAGGTG	0.512										HNSCC(10;0.0054)			G	152453304	A	G	152453304	3	3	198	1	0	0	0	0	1	0	0	0	15442	275	10	3	358	3	SYNE1	6	152453304	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	765884	152453304	18661763	531	109620											
SYNE1	23345	broad.mit.edu	37	chr6	152737700	152737700	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttctggatcctctctacctCtccacagagctgatcagccg	8	15	4	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:152737700C>A	uc010kiw.2	-	41	6474	c.5872G>T	c.(5872-5874)GAG>TAG	p.E1958*	SYNE1_uc003qot.3_Nonsense_Mutation_p.E1965*|SYNE1_uc003qou.3_Nonsense_Mutation_p.E1958*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.E1941*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1958	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCTACCTCTCCACAGAGC	0.507										HNSCC(10;0.0054)			A	152737700	C	A	152737700	4	1	198	1	0	0	0	0	0	1	0	0	15442	922	32	5	21018	5	SYNE1	6	152737700	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	284396	152737700	18377367	532	109621											
SYNE1	23345	broad.mit.edu	37	chr6	152783944	152783944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaagtttcttatgggCttccgttgcaaaagcagaca	9	8	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:152783944C>T	uc010kiw.2	-	20	2781	c.2179G>A	c.(2179-2181)GCC>ACC	p.A727T	SYNE1_uc003qot.3_Missense_Mutation_p.A734T|SYNE1_uc003qou.3_Missense_Mutation_p.A727T|SYNE1_uc010kjb.1_Missense_Mutation_p.A710T|SYNE1_uc003qpa.1_Missense_Mutation_p.A727T|SYNE1_uc003qow.2_Missense_Mutation_p.A22T|SYNE1_uc003qox.1_Missense_Mutation_p.A243T|SYNE1_uc003qoz.2_Missense_Mutation_p.A159T|SYNE1_uc003qoy.2_Missense_Mutation_p.A294T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	727	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTATGGGCTTCCGTTGCA	0.403										HNSCC(10;0.0054)			T	152783944	C	T	152783944	3	4	198	1	0	0	0	0	1	0	0	0	15442	797	28	2	24795	2	SYNE1	6	152783944	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	46244	152783944	18331123	533	109622											
TIAM2	26230	broad.mit.edu	37	chr6	155574159	155574159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgatccccatctccgcGcttcaagtcagactggggaa	11	12	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:155574159G>A	uc003qqb.2	+	26	5470	c.4197G>A	c.(4195-4197)GCG>GCA	p.A1399A	TIAM2_uc003qqe.2_Silent_p.A1399A|TIAM2_uc010kjj.2_Silent_p.A961A|TIAM2_uc003qqf.2_Silent_p.A775A|TIAM2_uc011efl.1_Silent_p.A735A|TIAM2_uc003qqg.2_Silent_p.A711A|TIAM2_uc003qqh.2_Silent_p.A324A	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1399	PH 2.				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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCATCTCCGCGCTTCAAGTCA	0.438													A	155574159	G	A	155574159	2	1	198	1	0	0	0	0	0	0	0	1	15888	1074	38	1		1	TIAM2	6	155574159	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2790215	155574159	15540908	534	109623											
SYNJ2	8871	broad.mit.edu	37	chr6	158492692	158492692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggggaacaagggcGccgtcggcatccgcttccag	16	13	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:158492692G>A	uc003qqx.1	+	15	2074	c.1999G>A	c.(1999-2001)GCC>ACC	p.A667T	SYNJ2_uc003qqw.1_Missense_Mutation_p.A667T|SYNJ2_uc003qqy.1_Missense_Mutation_p.A380T|SYNJ2_uc003qqz.1_Missense_Mutation_p.A284T|SYNJ2_uc003qra.1_Missense_Mutation_p.A10T	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	667	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAACAAGGGCGCCGTCGGCAT	0.607													A	158492692	G	A	158492692	3	1	198	1	0	0	0	0	1	0	0	0	15450	1087	38	1	2057	1	SYNJ2	6	158492692	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2918533	158492692	12622375	535	109624											
PACRG	135138	broad.mit.edu	37	chr6	163510322	163510322	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccgaaaccgacaggtcatCtgtgtcactctcaaggtcct	8	14	4	0	rs150756193	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:163510322C>T	uc003qua.2	+	5	719	c.495C>T	c.(493-495)ATC>ATT	p.I165I	PACRG_uc003qub.2_Silent_p.I165I|PACRG_uc003quc.2_Silent_p.I165I	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	165											0		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)		GACAGGTCATCTGTGTCACTC	0.463													T	163510322	C	T	163510322	2	4	198	1	0	0	0	0	0	0	0	1	11370	903	32	4		4	PACRG	6	163510322	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5017630	163510322	7604745	536	109625											
DLL1	28514	broad.mit.edu	37	chr6	170592537	170592537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttggtgttcttgatctgCgtggccccgatgatgctgac	13	9	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:170592537C>T	uc003qxm.2	-	9	2300	c.1830G>A	c.(1828-1830)ACG>ACA	p.T610T		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	610	Cytoplasmic (Potential).				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			lung(4)|ovary(1)	5		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)		TCTTGATCTGCGTGGCCCCGA	0.622													T	170592537	C	T	170592537	2	4	198	1	0	0	0	0	0	0	0	1	4566	755	27	1		1	DLL1	6	170592537	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	7082215	170592537	522530	537	109626											
GET4	51608	broad.mit.edu	37	chr7	927116	927116	+	Frame_Shift_Del	DEL	C	C	-													ggctccgggaagctgggccaCccccggctgcaccagctgct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:927115_927115AC>A	uc003sjl.1	+	3	517	c.425_425AC>A	c.(424-426)cacfs	p.H142fs	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	142					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						AAGCTGGGCCACCCCCGGCTG	0.647													-	927116	C	-	927116	7	5	198	1	0	1	0	1	0	0	0	0	6336	506	18	0	440	0	GET4	7	927116	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08		927116	158211547	538	109627											
INTS1	26173	broad.mit.edu	37	chr7	1539187	1539187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcattctggtgttgaaggCcgtctggatgttgtccacaa	14	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:1539187C>T	uc003skn.2	-	6	867	c.766G>A	c.(766-768)GCC>ACC	p.A256T	INTS1_uc003skq.2_Missense_Mutation_p.A256T	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	256					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGTTGAAGGCCGTCTGGATG	0.652													T	1539187	C	T	1539187	3	4	198	1	0	0	0	0	1	0	0	0	7775	739	26	2	5978	2	INTS1	7	1539187	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	612071	1539187	157599476	539	109628											
FBXL18	80028	broad.mit.edu	37	chr7	5545127	5545127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgacaggtacgccggacGttcagaatcagatctgtgct	11	11	3	2	rs145119070	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:5545127G>A	uc003soo.2	-	2	247	c.153C>T	c.(151-153)AAC>AAT	p.N51N	FBXL18_uc003son.3_Silent_p.N51N	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	51	F-box.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TACGCCGGACGTTCAGAATCA	0.587													A	5545127	G	A	5545127	2	1	198	1	0	0	0	0	0	0	0	1	5714	1136	40	1		1	FBXL18	7	5545127	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4005940	5545127	153593536	540	109629											
RAC1	5879	broad.mit.edu	37	chr7	6442041	6442041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcctctgcccgcctccCgtgaagaagaggaagagaaa	12	12	1	4	rs144238799	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:6442041C>T	uc003spx.2	+	6	784	c.543C>T	c.(541-543)CCC>CCT	p.P181P	RAC1_uc003spw.2_Silent_p.P200P	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	181					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			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GCCCGCCTCCCGTGAAGAAGA	0.522													T	6442041	C	T	6442041	2	4	198	1	0	0	0	0	0	0	0	1	12974	639	23	1		1	RAC1	7	6442041	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	896914	6442041	152696622	541	109630											
ETV1	2115	broad.mit.edu	37	chr7	14026313	14026313	+	Splice_Site	DEL	A	A	-													ttagatcttgaaagagttctAaaaaacaagtcaaagacata							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:14026312_14026312TA>T	uc021zzz.1	-	3	221	c.134_splice	c.e3-1	p.E45_splice	ETV1_uc021zzt.1_5'Flank|ETV1_uc021zzu.1_5'Flank|ETV1_uc021zzv.1_5'Flank|ETV1_uc021zzw.1_5'Flank|ETV1_uc021zzx.1_5'Flank|ETV1_uc021zzy.1_5'Flank|ETV1_uc022aaa.1_Splice_Site_p.E45_splice|ETV1_uc022aab.1_Splice_Site_p.E45_splice|ETV1_uc003ssw.4_Splice_Site_p.E45_splice|ETV1_uc003ssx.3_Splice_Site|ETV1_uc022aac.1_Splice_Site_p.E45_splice|ETV1_uc022aad.1_Splice_Site_p.E45_splice|ETV1_uc010ktv.3_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	45					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						GAAAGAGTTCTAAAAAACAAG	0.289			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								-	14026313	A	-	14026313	8	5	198	1	0	1	0	1	0	0	1	0	5277	377	13	0		0	ETV1	7	14026313	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	7584272	14026313	145112350	542	109631											
DNAH11	8701	broad.mit.edu	37	chr7	21939669	21939670	+	Frame_Shift_Ins	INS	-	-	A													cttgactgctgatgttaccaINSaaaaaacaaaggaagattat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:21939668_21939669C>CA	uc003svc.3	+	81	13285_13286	c.13254_13255C>CA	c.(13252-13257)accaaafs	p.T4418fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4418					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						CTGATGTTACCAAAAAAACAAA	0.465									Kartagener syndrome				A	21939670	-	A	21939669	7	5	198	1	0	1	1	0	0	0	0	0	4599	131	5	0	13578	0	DNAH11	7	21939669	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	7913356	21939669	137198994	543	109632											
HOXA6	3203	broad.mit.edu	37	chr7	27185513	27185513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtctggcggcctcggcGcccatggctcccatacacag	13	15	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:27185513G>A	uc003syo.1	-	2	466	c.466C>T	c.(466-468)CGC>TGC	p.R156C	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	156	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CGGCCTCGGCGCCCATGGCTC	0.657													A	27185513	G	A	27185513	3	1	198	1	0	0	0	0	1	0	0	0	7296	1087	38	1	239	1	HOXA6	7	27185513	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5245844	27185513	131953150	544	109633											
ZNRF2	223082	broad.mit.edu	37	chr7	30363339	30363339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgtgtttaacaaagccacGaataacctataatggtaagt	7	6	0	0	rs142290977		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:30363339G>A	uc003tat.2	+	2	1602	c.551G>A	c.(550-552)CGA>CAA	p.R184Q		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	184						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0						ACAAAGCCACGAATAACCTAT	0.269													A	30363339	G	A	30363339	3	1	198	1	0	0	0	0	1	0	0	0	18209	1058	37	1	557	1	ZNRF2	7	30363339	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3177826	30363339	128775324	545	109634											
AOAH	313	broad.mit.edu	37	chr7	36763673	36763673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctggactggtcatcGttggctggagaggccgagga	18	9	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:36763673G>A	uc003tfh.3	-	1	482	c.81C>T	c.(79-81)AAC>AAT	p.N27N	AOAH_uc010kxf.2_Silent_p.N27N|AOAH_uc011kba.1_Silent_p.N27N	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	27					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						ACTGGTCATCGTTGGCTGGAG	0.502													A	36763673	G	A	36763673	2	1	198	1	0	0	0	0	0	0	0	1	726	1136	40	1		1	AOAH	7	36763673	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	6400334	36763673	122374990	546	109635											
TXNDC3	51314	broad.mit.edu	37	chr7	37896881	37896881	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttactttttccaggcagaAgctgacaacattgtgacttt	8	8	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:37896881A>G	uc003tfn.2	+	6	576	c.204A>G	c.(202-204)GAA>GAG	p.E68E		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	68	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCCAGGCAGAAGCTGACAACA	0.274									Kartagener_syndrome				G	37896881	A	G	37896881	2	3	198	1	0	0	0	0	0	0	0	1	16795	69	3	3		3	TXNDC3	7	37896881	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1133208	37896881	121241782	547	109636											
HECW1	23072	broad.mit.edu	37	chr7	43484813	43484813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgtcctgctgcagcccctCgtgctacagctcctcgtgct	10	18	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:43484813C>T	uc003tid.1	+	11	2647	c.2042C>T	c.(2041-2043)TCG>TTG	p.S681L	HECW1_uc011kbi.1_Missense_Mutation_p.S681L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	681	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TGCAGCCCCTCGTGCTACAGC	0.672													T	43484813	C	T	43484813	3	4	198	1	0	0	0	0	1	0	0	0	7042	893	31	1	2076	1	HECW1	7	43484813	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5587932	43484813	115653850	548	109637											
TNS3	64759	broad.mit.edu	37	chr7	47408471	47408471	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacaaccatctgctgctggCgcacccaggtctgtgtggag	12	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:47408471C>A	uc003tnv.2	-	17	2139	c.1772G>T	c.(1771-1773)CGC>CTC	p.R591L	TNS3_uc003tnw.2_Missense_Mutation_p.R591L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	591						focal adhesion	protein binding			ovary(4)	4						CTGCTGCTGGCGCACCCAGGT	0.647													A	47408471	C	A	47408471	3	1	198	1	0	0	0	0	1	0	0	0	16341	768	27	5	2625	5	TNS3	7	47408471	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3923658	47408471	111730192	549	109638											
VWC2	375567	broad.mit.edu	37	chr7	49842417	49842417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacgagcctgatcagtgCtgtcccatctgcaaaaatgg	11	10	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:49842417C>T	uc003tot.1	+	3	1363	c.807C>T	c.(805-807)TGC>TGT	p.C269C		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	269	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						CTGATCAGTGCTGTCCCATCT	0.582													T	49842417	C	T	49842417	2	4	198	1	0	0	0	0	0	0	0	1	17240	805	28	2		2	VWC2	7	49842417	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2433946	49842417	109296246	550	109639											
AUTS2	26053	broad.mit.edu	37	chr7	70254989	70254989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgaggggcgcgccgcGggcgaagaggccaagcagct	19	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:70254989G>A	uc003tvw.3	+	19	3530	c.2787G>A	c.(2785-2787)GCG>GCA	p.A929A	AUTS2_uc003tvx.3_Silent_p.A905A|AUTS2_uc011keg.1_Silent_p.A381A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	929										ovary(2)|central_nervous_system(1)	3		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)		GGCGCGCCGCGGGCGAAGAGG	0.726													A	70254989	G	A	70254989	2	1	198	1	0	0	0	0	0	0	0	1	1225	1103	39	1		1	AUTS2	7	70254989	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	20412572	70254989	88883674	551	109640											
WBSCR17	64409	broad.mit.edu	37	chr7	70597984	70597984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggatgcggtcctgaagCgcctgtcgctgctggaggac	15	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:70597984C>T	uc003tvy.2	+	1	196	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	66	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTCCTGAAGCGCCTGTCGCT	0.721													T	70597984	C	T	70597984	3	4	198	1	0	0	0	0	1	0	0	0	17261	768	27	1	198	1	WBSCR17	7	70597984	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	342995	70597984	88540679	552	109641											
POM121	9883	broad.mit.edu	37	chr7	72412620	72412620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagccacatctgccccGtcccccgcccccaagcaaag	6	23	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:72412620G>A	uc003twk.2	+	11	2088	c.2088G>A	c.(2086-2088)CCG>CCA	p.P696P	POM121_uc003twj.2_Silent_p.P431P|POM121_uc010lam.1_Silent_p.P431P	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	696	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					0		Lung NSC(55;0.163)				CATCTGCCCCGTCCCCCGCCC	0.607													A	72412620	G	A	72412620	2	1	198	1	0	0	0	0	0	0	0	1	12239	1132	40	1		1	POM121	7	72412620	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1814636	72412620	86726043	553	109642											
FKBP6	8468	broad.mit.edu	37	chr7	72756821	72756821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgttacagggactAtgtggataaagagaaagaaa	11	6	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:72756821A>G	uc003tya.2	+	8	1040	c.908A>G	c.(907-909)TAT>TGT	p.Y303C	FKBP6_uc003twz.2_Missense_Mutation_p.Y273C|FKBP6_uc011kew.1_Missense_Mutation_p.Y298C	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	303					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				TACAGGGACTATGTGGATAAA	0.512											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	72756821	A	G	72756821	3	3	198	1	0	0	0	0	1	0	0	0	5912	449	16	3	984	3	FKBP6	7	72756821	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	344201	72756821	86381842	554	109643											
WBSCR27	155368	broad.mit.edu	37	chr7	73254783	73254783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggcccagggtgcagaGgctgaggcgctgatagaggc	17	11	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:73254783G>T	uc003tzj.2	-	4	389	c.349C>A	c.(349-351)CTC>ATC	p.L117I	RFC2_uc011kfa.1_Intron|WBSCR27_uc011kfd.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Williams-Beuren syndrome chromosome region 27	117										central_nervous_system(1)	1		Lung NSC(55;0.159)				AGGGTGCAGAGGCTGAGGCGC	0.677													T	73254783	G	T	73254783	3	4	198	1	0	0	0	0	1	0	0	0	17263	1000	35	5	400	5	WBSCR27	7	73254783	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	497962	73254783	85883880	555	109644											
CLIP2	7461	broad.mit.edu	37	chr7	73770775	73770775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaagtttggtctcttcgCgcccatccacaaagtgatcc	7	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:73770775C>T	uc003uam.2	+	5	1166	c.839C>T	c.(838-840)GCG>GTG	p.A280V	CLIP2_uc003uan.2_Missense_Mutation_p.A280V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	280	CAP-Gly 2.					microtubule associated complex				skin(3)	3						GGTCTCTTCGCGCCCATCCAC	0.597													T	73770775	C	T	73770775	3	4	198	1	0	0	0	0	1	0	0	0	3533	768	27	1	853	1	CLIP2	7	73770775	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	515992	73770775	85367888	556	109645											
ABCB1	5243	broad.mit.edu	37	chr7	87178807	87178808	+	Frame_Shift_Del	DEL	CT	CT	-													cccaccactcaactgggcccCtctctctccaaccagggtgt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87178806_87178807CCT>C	uc003uiz.2	-	14	2075_2076	c.1582_1583AGG>G	c.(1582-1584)gggfs	p.G528fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.G464fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	528	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|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)	CAACTGGGCCCCTCTCTCTCCA	0.505													-	87178808	CT	-	87178807	7	5	198	1	0	1	0	1	0	0	0	0	40	681	24	0	2320	0	ABCB1	7	87178807	Frame_Shift_Del	DEL	CT	TCGA-CG-5733-01A-11D-1600-08	13408032	87178807	71959856	557	109646											
ABCB1	5243	broad.mit.edu	37	chr7	87183124	87183124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagaggaccaaggtggTcccataccagaaggccagag	13	12	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87183124T>C	uc003uiz.1	-	10	1370	c.952A>G	c.(952-954)ACC>GCC	p.T318A	ABCB1_uc011khc.1_Missense_Mutation_p.T254A	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	318	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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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)	ACCAAGGTGGTCCCATACCAG	0.383													C	87183124	T	C	87183124	3	2	198	1	0	0	0	0	1	0	0	0	40	1667	58	3	2970	3	ABCB1	7	87183124	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4317	87183124	71955539	558	109647											
DBF4	10926	broad.mit.edu	37	chr7	87507389	87507389	+	Frame_Shift_Del	DEL	A	A	-													tggaatccaagtcaaaaatgAaaaaaacagaccatctctga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87507389delA	uc003ujf.1	+	2	572	c.68delA	c.(67-69)GAAfs	p.E23fs	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	23					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			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTCAAAAATGAAAAAAACAGA	0.299													-	87507389	A	-	87507389	7	5	198	1	0	1	0	1	0	0	0	0	4248	246	9	0	74	0	DBF4	7	87507389	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	324265	87507389	71631274	559	109648											
ADAM22	53616	broad.mit.edu	37	chr7	87737537	87737537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatatccgaggaaaccctgActcatttgttgcattgtcaa	7	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87737537A>G	uc003ujn.2	+	5	516	c.437A>G	c.(436-438)GAC>GGC	p.D146G	ADAM22_uc003uji.1_Missense_Mutation_p.D145G|ADAM22_uc003ujj.1_Missense_Mutation_p.D146G|ADAM22_uc003ujk.1_Missense_Mutation_p.D146G|ADAM22_uc003ujl.1_Missense_Mutation_p.D146G|ADAM22_uc003ujm.2_Missense_Mutation_p.D146G|ADAM22_uc003ujo.2_Missense_Mutation_p.D146G|ADAM22_uc003ujp.1_Missense_Mutation_p.D198G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	146					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			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAACCCTGACTCATTTGTT	0.363													G	87737537	A	G	87737537	3	3	198	1	0	0	0	0	1	0	0	0	244	275	10	3	455	3	ADAM22	7	87737537	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	230148	87737537	71401126	560	109649											
ZNF804B	219578	broad.mit.edu	37	chr7	88965927	88965927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctatcaccaccatccacCacacgttcctgcagcatttt	3	17	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:88965927C>A	uc011khi.1	+	4	4169	c.3631C>A	c.(3631-3633)CAC>AAC	p.H1211N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1211						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACCATCCACCACACGTTCCT	0.502										HNSCC(36;0.09)			A	88965927	C	A	88965927	3	1	198	1	0	0	0	0	1	0	0	0	18168	594	21	5	3645	5	ZNF804B	7	88965927	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1228390	88965927	70172736	561	109650											
AKAP9	10142	broad.mit.edu	37	chr7	91726097	91726097	+	Frame_Shift_Del	DEL	A	A	-													actactgaacgaatcccagcAaaaaatagaatcacagagaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:91726096_91726096CA>C	uc003ulg.3	+	40	10048	c.9823_9823CA>C	c.(9823-9825)caafs	p.Q3275fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.Q3267fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.Q2898fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.Q1045fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.Q171fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3279					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	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)			CGAATCCCAGCAAAAAATAGA	0.388			T	BRAF	papillary thyroid								-	91726097	A	-	91726097	7	5	198	1	0	1	0	1	0	0	0	0	459	130	5	0	9986	0	AKAP9	7	91726097	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	2760170	91726097	67412566	562	109651											
COL1A2	1278	broad.mit.edu	37	chr7	94055071	94055071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttggtagggagagcgcGgttaccctggcaatattggt	15	8	0	1	rs72659312		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:94055071G>A	uc003ung.1	+	44	3316	c.2845G>A	c.(2845-2847)GGT>AGT	p.G949S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	949			G -> S (in OI3; moderate).		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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGAGAGCGCGGTTACCCTGG	0.488										HNSCC(75;0.22)			A	94055071	G	A	94055071	3	1	198	1	0	0	0	0	1	0	0	0	3678	1116	39	1	3019	1	COL1A2	7	94055071	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2328974	94055071	65083592	563	109652											
CASD1	64921	broad.mit.edu	37	chr7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-													ggttggcatgtatagctgcaTttttttgtggactcctcatc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:94185016_94185016AT>A	uc003uni.4	+	17	2567	c.2340_2340AT>A	c.(2338-2340)gcafs	p.A780fs	CASD1_uc003unj.4_Frame_Shift_Del_p.A780fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	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)			GTATAGCTGCATTTTTTTGTG	0.343													-	94185017	T	-	94185017	7	5	198	1	0	1	0	1	0	0	0	0	2664	1493	52	0	2411	0	CASD1	7	94185017	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	129946	94185017	64953646	564	109653											
DYNC1I1	1780	broad.mit.edu	37	chr7	95614280	95614280	+	Frame_Shift_Del	DEL	A	A	-													cagcggccgagagttagaggAaaaagatgggttagtctctt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:95614280delA	uc003uoc.3	+	8	1062	c.785delA	c.(784-786)GAAfs	p.E262fs	DYNC1I1_uc003uod.3_Frame_Shift_Del_p.E245fs|DYNC1I1_uc003uob.2_Frame_Shift_Del_p.E225fs|DYNC1I1_uc003uoe.3_Frame_Shift_Del_p.E242fs|DYNC1I1_uc010lfl.2_Frame_Shift_Del_p.E251fs	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	262					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	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)			GAGTTAGAGGAAAAAGATGGG	0.358													-	95614280	A	-	95614280	7	5	198	1	0	1	0	1	0	0	0	0	4842	246	9	0	811	0	DYNC1I1	7	95614280	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	1429263	95614280	63524383	565	109654											
MCM7	4176	broad.mit.edu	37	chr7	99695360	99695360	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgccagcttttcgtagaAatcctcctctgtagagaagt	9	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:99695360A>C	uc003usw.1	-	9	1504	c.994T>G	c.(994-996)TTC>GTC	p.F332V	MCM7_uc003usv.1_Missense_Mutation_p.F156V|MCM7_uc003usx.1_Missense_Mutation_p.F156V	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	332	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				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTTTCGTAGAAATCCTCCTCT	0.507													C	99695360	A	C	99695360	3	2	198	1	0	0	0	0	1	0	0	0	9392	14	1	5	1193	5	MCM7	7	99695360	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4081080	99695360	59443303	566	109655											
FBXO24	26261	broad.mit.edu	37	chr7	100192820	100192820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccctggaccagcagatgCcgcttgctctctcactgcct	8	18	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100192820C>T	uc003uvm.1	+	7	1341	c.1048C>T	c.(1048-1050)CCG>TCG	p.P350S	FBXO24_uc003uvl.1_Intron|FBXO24_uc003uvn.1_Missense_Mutation_p.P45S|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.P388S|FBXO24_uc011kka.1_Missense_Mutation_p.P338S	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	350						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGCAGATGCCGCTTGCTCT	0.582													T	100192820	C	T	100192820	3	4	198	1	0	0	0	0	1	0	0	0	5735	739	26	2	1231	2	FBXO24	7	100192820	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	497460	100192820	58945843	567	109656											
SRRT	51593	broad.mit.edu	37	chr7	100479332	100479333	+	Frame_Shift_Ins	INS	-	-	G													ctatgagatgccctatgctgINSgggggggtgggggcccaact							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100479331_100479332T>TG	uc003uwy.2	+	3	570_571	c.303_304T>TG	c.(301-306)gctgggfs	p.A101fs	SRRT_uc010lhl.1_Frame_Shift_Ins_p.A101fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.A101fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.A101fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(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						TGCCCTATGCTGGGGGGGGTGG	0.609													G	100479333	-	G	100479332	7	5	198	1	0	1	1	0	0	0	0	0	15171	1348	47	0	314	0	SRRT	7	100479332	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	286512	100479332	58659331	568	109657											
MUC17	140453	broad.mit.edu	37	chr7	100680596	100680596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctcaagccagttcatctCctacaactgctgatggtacc	6	13	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100680596C>T	uc003uxp.1	+	3	5952	c.5899C>T	c.(5899-5901)CCT>TCT	p.P1967S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1967	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|31.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAACTGC	0.502													T	100680596	C	T	100680596	3	4	198	1	0	0	0	0	1	0	0	0	9974	855	30	4	5909	4	MUC17	7	100680596	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	201264	100680596	58458067	569	109658											
MUC17	140453	broad.mit.edu	37	chr7	100680955	100680955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccagttcatctgcaacCgctgaaggtagcagcatgac	11	11	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100680955C>T	uc003uxp.1	+	3	6311	c.6258C>T	c.(6256-6258)ACC>ACT	p.T2086T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2086	Extracellular (Potential).|33.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CATCTGCAACCGCTGAAGGTA	0.502													T	100680955	C	T	100680955	2	4	198	1	0	0	0	0	0	0	0	1	9974	639	23	1		1	MUC17	7	100680955	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	359	100680955	58457708	570	109659											
ALKBH4	54784	broad.mit.edu	37	chr7	102098296	102098296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtccaggttgcactgctCgacgggccggaagccctcca	13	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:102098296C>T	uc003uzl.2	-	3	459	c.454G>A	c.(454-456)GAG>AAG	p.E152K	ALKBH4_uc003uzm.2_Missense_Mutation_p.E79K	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4	152						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTGCACTGCTCGACGGGCCGG	0.692													T	102098296	C	T	102098296	3	4	198	1	0	0	0	0	1	0	0	0	529	893	31	1	458	1	ALKBH4	7	102098296	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1417341	102098296	57040367	571	109660											
LRRC17	10234	broad.mit.edu	37	chr7	102584826	102584826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctctactactggttaaaGcaccactacaatgtccattt	4	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:102584826G>A	uc003vau.2	+	4	1487	c.1098G>A	c.(1096-1098)AAG>AAA	p.K366K	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	366	LRRCT 2.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						ACTGGTTAAAGCACCACTACA	0.378													A	102584826	G	A	102584826	2	1	198	1	0	0	0	0	0	0	0	1	8973	962	34	2		2	LRRC17	7	102584826	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	486530	102584826	56553837	572	109661											
SRPK2	6733	broad.mit.edu	37	chr7	104787044	104787044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacatcaagatattttccGgctttatgtcagtatgaatg	7	8	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:104787044G>A	uc003vct.2	-	7	837	c.650C>T	c.(649-651)CCG>CTG	p.P217L	SRPK2_uc003vcu.2_Missense_Mutation_p.P217L|SRPK2_uc003vcv.2_Missense_Mutation_p.P228L|SRPK2_uc003vcw.1_Missense_Mutation_p.P217L	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	217	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GATATTTTCCGGCTTTATGTC	0.423													A	104787044	G	A	104787044	3	1	198	1	0	0	0	0	1	0	0	0	15159	1116	39	1	1452	1	SRPK2	7	104787044	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2202218	104787044	54351619	573	109662											
PRKAR2B	5577	broad.mit.edu	37	chr7	106797745	106797745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagcagcttctgcccacGccattgggactgtcaaatgt	10	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:106797745G>A	uc003vdx.2	+	10	1274	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	367	cAMP 2.				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			ovary(1)	1						TTCTGCCCACGCCATTGGGAC	0.483													A	106797745	G	A	106797745	3	1	198	1	0	0	0	0	1	0	0	0	12506	1087	38	1	1137	1	PRKAR2B	7	106797745	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2010701	106797745	52340918	574	109663											
DLD	1738	broad.mit.edu	37	chr7	107542201	107542201	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgatgctgatgtaacagTtataggttctggtcctggag	13	5	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:107542201T>G	uc003vet.2	+	3	247	c.137T>G	c.(136-138)GTT>GGT	p.V46G	DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.V46G|DLD_uc011kmh.1_Missense_Mutation_p.V46G|DLD_uc011kmi.1_Intron	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	46					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GATGTAACAGTTATAGGTTCT	0.323													G	107542201	T	G	107542201	3	3	198	1	0	0	0	0	1	0	0	0	4551	1725	60	5	147	5	DLD	7	107542201	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	744456	107542201	51596462	575	109664											
LAMB1	3912	broad.mit.edu	37	chr7	107599833	107599833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtaagcaccgatcacActgccgagcatacactccct	7	17	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:107599833A>G	uc003vew.2	-	20	2886	c.2551T>C	c.(2551-2553)TGT>CGT	p.C851R	LAMB1_uc003vev.2_Missense_Mutation_p.C875R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	851	Laminin EGF-like 7.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCGATCACACTGCCGAGCA	0.572													G	107599833	A	G	107599833	3	3	198	1	0	0	0	0	1	0	0	0	8610	159	6	3	2869	3	LAMB1	7	107599833	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	57632	107599833	51538830	576	109665											
WNT2	7472	broad.mit.edu	37	chr7	116955140	116955140	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataccttcctgccagctctGttgttgtgaagattcatcag	8	11	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:116955140G>T	uc003viz.2	-	3	873	c.573C>A	c.(571-573)AAC>AAA	p.N191K	WNT2_uc003vja.2_Missense_Mutation_p.N95K	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	191					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(2)|ovary(1)|lung(1)|skin(1)	7	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)		TGCCAGCTCTGTTGTTGTGAA	0.403													T	116955140	G	T	116955140	3	4	198	1	0	0	0	0	1	0	0	0	17383	1368	48	5	521	5	WNT2	7	116955140	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	9355307	116955140	42183523	577	109666											
SLC13A1	6561	broad.mit.edu	37	chr7	122765656	122765656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtagttttagtcagtgTcttagctgggataagaaaga	13	3	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:122765656T>C	uc003vkm.2	-	11	1232	c.1207A>G	c.(1207-1209)ACA>GCA	p.T403A	SLC13A1_uc010lks.2_Missense_Mutation_p.T279A	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	403						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTAGTCAGTGTCTTAGCTGGG	0.338													C	122765656	T	C	122765656	3	2	198	1	0	0	0	0	1	0	0	0	14391	1667	58	3	600	3	SLC13A1	7	122765656	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	5810516	122765656	36373007	578	109667											
WASL	8976	broad.mit.edu	37	chr7	123346379	123346379	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtaactgcttttcgaaAtttttttgcttcttcttcat	5	8	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:123346379A>T	uc003vkz.2	-	4	716	c.388T>A	c.(388-390)TTT>ATT	p.F130I		NM_003941	NP_003932	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome gene-like protein	130	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				0						GCTTTTCGAAATTTTTTTGCT	0.294													T	123346379	A	T	123346379	3	4	198	1	0	0	0	0	1	0	0	0	17253	101	4	5	1161	5	WASL	7	123346379	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	580723	123346379	35792284	579	109668											
HYAL4	23553	broad.mit.edu	37	chr7	123508376	123508376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttgtgttgttcaaccaGtacatctcacttcatggctc	7	11	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:123508376G>A	uc003vlc.2	+	3	687	c.49G>A	c.(49-51)GTA>ATA	p.V17I	HYAL4_uc011knz.1_Missense_Mutation_p.V17I	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	17	Helical; (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TGTTCAACCAGTACATCTCAC	0.343													A	123508376	G	A	123508376	3	1	198	1	0	0	0	0	1	0	0	0	7466	1029	36	4	51	4	HYAL4	7	123508376	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	161997	123508376	35630287	580	109669											
TNPO3	23534	broad.mit.edu	37	chr7	128610259	128610260	+	Frame_Shift_Ins	INS	-	-	G													ccacatctggtagggtatagINSggggggaggcaaaagcagca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:128610258_128610259A>AG	uc010lly.2	-	19	3046_3047	c.2643_2644T>CT	c.(2641-2646)ccctatfs	p.P881fs	TNPO3_uc010llx.2_Frame_Shift_Ins_p.P258fs|TNPO3_uc003vol.2_Frame_Shift_Ins_p.P847fs|TNPO3_uc010llz.2_Frame_Shift_Ins_p.P783fs|TNPO3_uc003vom.2_Frame_Shift_Ins_p.P781fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	847					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.E882*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485													G	128610260	-	G	128610259	7	5	198	1	0	1	1	0	0	0	0	0	16334	987	35	0	242	0	TNPO3	7	128610259	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	5101883	128610259	30528404	581	109670											
PLXNA4	91584	broad.mit.edu	37	chr7	131825463	131825463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtggagcaagagtccatgAaggtctgagccaccacagag	13	10	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:131825463A>G	uc003vra.3	-	30	5562	c.5333T>C	c.(5332-5334)TTC>TCC	p.F1778S	PLXNA4_uc003vqz.3_Missense_Mutation_p.F63S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1778	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGAGTCCATGAAGGTCTGAGC	0.537													G	131825463	A	G	131825463	3	3	198	1	0	0	0	0	1	0	0	0	12122	246	9	3	363	3	PLXNA4	7	131825463	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3215204	131825463	27313200	582	109671											
CNOT4	4850	broad.mit.edu	37	chr7	135047689	135047689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctgtgggggttttgctgGggggtctgaaggctgtctga	18	5	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:135047689G>T	uc011kpy.1	-	11	2182	c.2090C>A	c.(2089-2091)CCC>CAC	p.P697H	CNOT4_uc003vss.2_Missense_Mutation_p.P623H|CNOT4_uc011kpz.1_Missense_Mutation_p.P694H|CNOT4_uc003vst.2_Missense_Mutation_p.P626H	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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				0						GGTTTTGCTGGGGGGTCTGAA	0.532													T	135047689	G	T	135047689	3	4	198	1	0	0	0	0	1	0	0	0	3621	1232	43	5	55	5	CNOT4	7	135047689	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3222226	135047689	24090974	583	109672											
KIAA1549	57670	broad.mit.edu	37	chr7	138603298	138603298	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgaaagcaatggagaAtgtgtcctgctgaatgcaag	14	5	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:138603298A>G	uc011kql.1	-	2	1123	c.1074T>C	c.(1072-1074)CAT>CAC	p.H358H	KIAA1549_uc003vuk.3_Silent_p.H308H|KIAA1549_uc011kqj.1_Silent_p.H358H	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	358						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GCAATGGAGAATGTGTCCTGC	0.493			O	BRAF	pilocytic astrocytoma								G	138603298	A	G	138603298	2	3	198	1	0	0	0	0	0	0	0	1	8244	98	4	3		3	KIAA1549	7	138603298	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3555609	138603298	20535365	584	109673											
UBN2	254048	broad.mit.edu	37	chr7	138969242	138969242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaggaagtggaacacaGggtgctaccaaaccattgtc	12	9	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:138969242G>T	uc011kqr.1	+	15	3591	c.3591G>T	c.(3589-3591)CAG>CAT	p.Q1197H		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1197	Ser-rich.									ovary(1)|skin(1)	2						GTGGAACACAGGGTGCTACCA	0.498													T	138969242	G	T	138969242	3	4	198	1	0	0	0	0	1	0	0	0	16890	991	35	5	3649	5	UBN2	7	138969242	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	365944	138969242	20169421	585	109674											
CLCN1	1180	broad.mit.edu	37	chr7	143036388	143036388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactatgcccataccctgcGgaggcttcatgcctgtgttt	9	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:143036388G>A	uc003wcr.1	+	13	1531	c.1444G>A	c.(1444-1446)GGA>AGA	p.G482R	CLCN1_uc011ktc.1_Missense_Mutation_p.G94R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	482	Helical; (By similarity).|Selectivity filter part_3 (By similarity).		G -> R (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CATACCCTGCGGAGGCTTCAT	0.502													A	143036388	G	A	143036388	3	1	198	1	0	0	0	0	1	0	0	0	3462	1117	39	1	1494	1	CLCN1	7	143036388	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4067146	143036388	16102275	586	109675											
TPK1	27010	broad.mit.edu	37	chr7	144150726	144150726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggtattggaagtactgAccaatgttccaaaagcaagc	10	8	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:144150726A>G	uc003weq.2	-	9	747	c.644T>C	c.(643-645)GTC>GCC	p.V215A	TPK1_uc003weo.2_Missense_Mutation_p.V161A|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.V166A|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	215					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	GGAAGTACTGACCAATGTTCC	0.413													G	144150726	A	G	144150726	3	3	198	1	0	0	0	0	1	0	0	0	16401	275	10	3	91	3	TPK1	7	144150726	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1114338	144150726	14987937	587	109676											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997373	146997374	+	Frame_Shift_Ins	INS	-	-	T													taaaactggcgagaagtactINStttttggaggtaagaatgcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:146997372_146997373C>CT	uc003weu.2	+	8	2004_2005	c.1488_1489C>CT	c.(1486-1491)tactttfs	p.Y496fs	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	496	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGAGAAGTACTTTTTTGGAGG	0.356										HNSCC(39;0.1)			T	146997374	-	T	146997373	7	5	198	1	0	1	1	0	0	0	0	0	3647	1609	56	0	1523	0	CNTNAP2	7	146997373	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	2846647	146997373	12141290	588	109677											
CUL1	8454	broad.mit.edu	37	chr7	148484193	148484193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgacgatgccgaagccaGcatgatctccaagttaaagg	11	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:148484193G>A	uc010lpg.2	+	13	1986	c.1460G>A	c.(1459-1461)AGC>AAC	p.S487N	CUL1_uc003wey.2_Missense_Mutation_p.S487N|CUL1_uc003wez.2_Missense_Mutation_p.S377N|CUL1_uc003wfa.2_Missense_Mutation_p.S148N	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	487					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			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCGAAGCCAGCATGATCTCC	0.383													A	148484193	G	A	148484193	3	1	198	1	0	0	0	0	1	0	0	0	4054	971	34	2	1506	2	CUL1	7	148484193	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1486820	148484193	10654470	589	109678											
ZNF786	136051	broad.mit.edu	37	chr7	148767724	148767724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgtgtcccctttcccGgaagttcttgtcacactcag	8	14	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:148767724G>A	uc003wfh.2	-	4	2277	c.2140C>T	c.(2140-2142)CGG>TGG	p.R714W	ZNF786_uc011kuk.1_Missense_Mutation_p.R677W|ZNF786_uc003wfi.2_Missense_Mutation_p.R628W	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	714	C2H2-type 15.			R -> W (in Ref. 1; CAD39166).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCCTTTCCCGGAAGTTCTTG	0.582													A	148767724	G	A	148767724	3	1	198	1	0	0	0	0	1	0	0	0	18155	1115	39	1	212	1	ZNF786	7	148767724	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	283531	148767724	10370939	590	109679											
ZNF746	155061	broad.mit.edu	37	chr7	149171807	149171807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcaggggaagggccgctCgccggtgtgcagcatgcgat	19	10	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:149171807C>T	uc003wfw.2	-	7	1874	c.1603G>A	c.(1603-1605)GAG>AAG	p.E535K	ZNF746_uc010lpi.2_Missense_Mutation_p.E536K	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	535					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			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGGCCGCTCGCCGGTGTGC	0.657													T	149171807	C	T	149171807	3	4	198	1	0	0	0	0	1	0	0	0	18126	893	31	1	335	1	ZNF746	7	149171807	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	404083	149171807	9966856	591	109680											
GIMAP8	155038	broad.mit.edu	37	chr7	150174379	150174379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaccagatgctggatgtCgaaaaggacccatcccggtt	10	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:150174379C>T	uc003whj.2	+	5	1839	c.1509C>T	c.(1507-1509)GTC>GTT	p.V503V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	503						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCTGGATGTCGAAAAGGACC	0.552													T	150174379	C	T	150174379	2	4	198	1	0	0	0	0	0	0	0	1	6385	871	31	1		1	GIMAP8	7	150174379	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1002572	150174379	8964284	592	109681											
ABCF2	10061	broad.mit.edu	37	chr7	150915664	150915664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccccatcttttgtatactTgaagctcacattttgcacca	4	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:150915664T>C	uc003wjp.2	-	10	1321	c.1210A>G	c.(1210-1212)AAG>GAG	p.K404E	ABCF2_uc003wjo.1_Missense_Mutation_p.K404E	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	404	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTGTATACTTGAAGCTCACA	0.483													C	150915664	T	C	150915664	3	2	198	1	0	0	0	0	1	0	0	0	66	1821	63	3	726	3	ABCF2	7	150915664	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	741285	150915664	8222999	593	109682											
ERICH1	157697	broad.mit.edu	37	chr8	623803	623803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgaaactgacaccagcAgcctttgctgccaagccggc	9	14	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:623803A>G	uc003wph.2	-	4	614	c.549T>C	c.(547-549)GCT>GCC	p.A183A	ERICH1_uc011kwh.1_Silent_p.A183A|ERICH1_uc003wpe.1_Silent_p.A89A|ERICH1_uc003wpi.2_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	183										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TGACACCAGCAGCCTTTGCTG	0.493													G	623803	A	G	623803	2	3	198	1	0	0	0	0	0	0	0	1	5230	175	7	3		3	ERICH1	8	623803	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08		623803	145740219	594	109683											
DLGAP2	9228	broad.mit.edu	37	chr8	1497007	1497007	+	Frame_Shift_Del	DEL	G	G	-													gccccgccgacagctgccccGgggggcgccaccgctgctcg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:1497007delG	uc003wpl.2	+	2	245	c.148delG	c.(148-150)GGGfs	p.G50fs	DLGAP2_uc003wpm.2_Frame_Shift_Del_p.G50fs	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	129					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		CAGCTGCCCCGGGGGGCGCCA	0.751													-	1497007	G	-	1497007	7	5	198	1	0	1	0	1	0	0	0	0	4560	1116	39	0	150	0	DLGAP2	8	1497007	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	873204	1497007	144867015	595	109684											
CSMD1	64478	broad.mit.edu	37	chr8	2855694	2855694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagggtttccagggtgaCcacatgtgatggctgtagag	17	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:2855694C>T	uc011kwk.1	-	54	8609	c.8219G>A	c.(8218-8220)GGT>GAT	p.G2740D	CSMD1_uc011kwj.1_Missense_Mutation_p.G2069D|CSMD1_uc010lrg.2_Missense_Mutation_p.G750D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2740	Extracellular (Potential).|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)		TCCAGGGTGACCACATGTGAT	0.463													T	2855694	C	T	2855694	3	4	198	1	0	0	0	0	1	0	0	0	3944	507	18	4	2546	4	CSMD1	8	2855694	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1358687	2855694	143508328	596	109685											
MCPH1	79648	broad.mit.edu	37	chr8	6338339	6338339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttccgggaagccacttcGcaccctgaatgtgctgctgg	12	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:6338339G>A	uc003wqi.2	+	11	2146	c.2078G>A	c.(2077-2079)CGC>CAC	p.R693H		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	693	BRCT 2.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCACTTCGCACCCTGAAT	0.493													A	6338339	G	A	6338339	3	1	198	1	0	0	0	0	1	0	0	0	9398	1087	38	1	2128	1	MCPH1	8	6338339	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3482645	6338339	140025683	597	109686											
MSRA	4482	broad.mit.edu	37	chr8	10102690	10102692	+	In_Frame_Del	DEL	AGG	AGG	-													tcaactcaagttggttttgcAggaggctatacttcaaatcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:10102689_10102691CAGG>C	uc003wsx.3	+	2	484_486	c.287_289CAGG>C	c.(286-291)gcagga>gCga	p.G98del	MSRA_uc011kwx.2_Intron|MSRA_uc011kwy.1_In_Frame_Del_p.G55del|MSRA_uc003wsy.3_In_Frame_Del_p.G32del|MSRA_uc003wsz.3_In_Frame_Del_p.G55del	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	98					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GTTGGTTTTGCAGGAGGCTATAC	0.374													-	10102692	AGG	-	10102690	7	5	198	1	0	1	0	1	0	0	0	0	9887	175	7	0	315	0	MSRA	8	10102690	In_Frame_Del	DEL	AGG	TCGA-CG-5733-01A-11D-1600-08	3764351	10102690	136261332	598	109687											
MSRA	4482	broad.mit.edu	37	chr8	10177409	10177409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggtatgcgccaggggaaCgaccatggcactcagtaccg	13	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:10177409C>T	uc003wsx.2	+	5	650	c.453C>T	c.(451-453)AAC>AAT	p.N151N	MSRA_uc011kwx.1_Silent_p.N111N|MSRA_uc011kwy.1_Silent_p.N108N|MSRA_uc003wsz.2_Silent_p.N108N|MSRA_uc003wsy.2_Silent_p.N85N	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	151					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GCCAGGGGAACGACCATGGCA	0.547													T	10177409	C	T	10177409	2	4	198	1	0	0	0	0	0	0	0	1	9887	535	19	1		1	MSRA	8	10177409	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	74719	10177409	136186613	599	109688											
RP1L1	94137	broad.mit.edu	37	chr8	10464633	10464633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtggacttggcatcaggGctccttgtgtctccaagtac	11	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:10464633G>A	uc003wtc.2	-	4	7204	c.6975C>T	c.(6973-6975)AGC>AGT	p.S2325S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2325					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGGCATCAGGGCTCCTTGTGT	0.557													A	10464633	G	A	10464633	2	1	198	1	0	0	0	0	0	0	0	1	13533	1194	42	2		2	RP1L1	8	10464633	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	287224	10464633	135899389	600	109689											
ASAH1	427	broad.mit.edu	37	chr8	17927303	17927303	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaataatatctcttaccaAtttttcatccaccacctgca	2	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:17927303A>T	uc003wyl.2	-	4	613	c.301T>A	c.(301-303)TTG>ATG	p.L101M	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.L101M|ASAH1_uc003wyn.2_Missense_Mutation_p.L117M|ASAH1_uc003wyo.2_Intron	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	101					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TCTCTTACCAATTTTTCATCC	0.318													T	17927303	A	T	17927303	3	4	198	1	0	0	0	0	1	0	0	0	1006	98	4	5	930	5	ASAH1	8	17927303	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	7462670	17927303	128436719	601	109690											
LZTS1	11178	broad.mit.edu	37	chr8	20112440	20112440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaaatccccgctggacaGtgccgtgtaatctgggtgat	11	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:20112440G>A	uc003wzr.2	-	1	364	c.253C>T	c.(253-255)CTG>TTG	p.L85L	LZTS1_uc010ltg.1_Silent_p.L85L	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577													A	20112440	G	A	20112440	2	1	198	1	0	0	0	0	0	0	0	1	9138	1020	36	4		4	LZTS1	8	20112440	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2185137	20112440	126251582	602	109691											
FAM160B2	64760	broad.mit.edu	37	chr8	21956068	21956068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcacctttgccagttgtaCcggtccatgcctgtcttcct	9	15	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:21956068C>T	uc011kyx.1	+	7	954	c.903C>T	c.(901-903)TAC>TAT	p.Y301Y	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	301											0						GCCAGTTGTACCGGTCCATGC	0.647													T	21956068	C	T	21956068	2	4	198	1	0	0	0	0	0	0	0	1	5471	518	18	4		4	FAM160B2	8	21956068	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1843628	21956068	124407954	603	109692											
KIAA1967	57805	broad.mit.edu	37	chr8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-													ttcagtacctgcagccgggaCccccccggcggcttcagaca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582													-	22472975	C	-	22472975	7	5	198	1	0	1	0	1	0	0	0	0	8265	507	18	0	1285	0	KIAA1967	8	22472975	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	516907	22472975	123891047	604	109693											
KIAA1967	57805	broad.mit.edu	37	chr8	22473623	22473623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgaaaaggtcgtgtcCccacctgaacctgagaagga	10	12	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22473623C>T	uc003xch.2	+	14	1844	c.1707C>T	c.(1705-1707)TCC>TCT	p.S569S	KIAA1967_uc003xci.2_Silent_p.S569S|KIAA1967_uc003xcj.1_Silent_p.S238S	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	569					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGTCGTGTCCCCACCTGAAC	0.537													T	22473623	C	T	22473623	2	4	198	1	0	0	0	0	0	0	0	1	8265	610	22	4		4	KIAA1967	8	22473623	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	648	22473623	123890399	605	109694											
BIN3	55909	broad.mit.edu	37	chr8	22487477	22487477	+	Frame_Shift_Del	DEL	T	T	-													cccaggtgacatttactcacTtttttaagggctcgatcaca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22487477delT	uc003xcl.2	-	6	435	c.338delA	c.(337-339)AAGfs	p.K113fs	BIN3_uc003xck.2_Frame_Shift_Del_p.K65fs|BIN3_uc010ltw.2_Frame_Shift_Del_p.K59fs	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	113	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ATTTACTCACTTTTTTAAGGG	0.532													-	22487477	T	-	22487477	7	5	198	1	0	1	0	1	0	0	0	0	1434	1623	56	0	439	0	BIN3	8	22487477	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	13854	22487477	123876545	606	109695											
EGR3	1960	broad.mit.edu	37	chr8	22548028	22548028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagcgacacggggggCgccgaggatgcagagggtgc	22	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22548028C>T	uc003xcm.1	-	2	1480	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A	EGR3_uc011kzn.1_Silent_p.A336A|EGR3_uc011kzo.1_Silent_p.A320A	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	374					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		ACACGGGGGGCGCCGAGGATG	0.672													T	22548028	C	T	22548028	2	4	198	1	0	0	0	0	0	0	0	1	4973	755	27	1		1	EGR3	8	22548028	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	60551	22548028	123815994	607	109696											
RHOBTB2	23221	broad.mit.edu	37	chr8	22862901	22862901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtgctggaacgctcccGagacgtggtagatgatgtca	14	10	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22862901G>A	uc003xcq.2	+	3	746	c.209G>A	c.(208-210)CGA>CAA	p.R70Q	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R92Q|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R77Q	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	70	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAACGCTCCCGAGACGTGGTA	0.607													A	22862901	G	A	22862901	3	1	198	1	0	0	0	0	1	0	0	0	13334	1058	37	1	300	1	RHOBTB2	8	22862901	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	314873	22862901	123501121	608	109697											
STC1	6781	broad.mit.edu	37	chr8	23709800	23709800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaagaaggatttacagatGtcatacatcccatctgtgtc	7	9	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:23709800G>A	uc003xdw.1	-	2	500	c.216C>T	c.(214-216)GAC>GAT	p.D72D		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	72					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ATTTACAGATGTCATACATCC	0.488													A	23709800	G	A	23709800	2	1	198	1	0	0	0	0	0	0	0	1	15274	1368	48	4		4	STC1	8	23709800	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	846899	23709800	122654222	609	109698											
TRIM35	23087	broad.mit.edu	37	chr8	27145457	27145457	+	Frame_Shift_Del	DEL	C	C	-													cccaccctccagctctgcagCcccccaagggccacctccca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:27145456_27145456GC>G	uc003xfl.1	-	5	1175	c.1093_1093GC>C	c.(1093-1095)ctgfs	p.L365fs	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	365	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)		CAGCTCTGCAGCCCCCCAAGG	0.687													-	27145457	C	-	27145457	7	5	198	1	0	1	0	1	0	0	0	0	16506	726	26	0	393	0	TRIM35	8	27145457	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	3435657	27145457	119218565	610	109699											
WRN	7486	broad.mit.edu	37	chr8	30982073	30982073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacgtaatgagaagtttcGattatacaaattaaagatga	8	3	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:30982073G>A	uc003xio.3	+	22	3454	c.2666G>A	c.(2665-2667)CGA>CAA	p.R889Q	WRN_uc010lvk.2_Missense_Mutation_p.R356Q	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	889	Helicase C-terminal.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAGAAGTTTCGATTATACAAA	0.303			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30982073	G	A	30982073	3	1	198	1	0	0	0	0	1	0	0	0	17399	1058	37	1	2748	1	WRN	8	30982073	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3836616	30982073	115381949	611	109700											
ERLIN2	11160	broad.mit.edu	37	chr8	37611432	37611432	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttttttttttttaacaGctgaagctaacccctgaata	4	8	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:37611432G>A	uc003xke.3	+	12	935	c.820_splice	c.e12-1	p.L274_splice		NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1						ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TTTTTTAACAGCTGAAGCTAA	0.398													A	37611432	G	A	37611432	5	1	198	1	0	0	0	0	0	0	1	0	5233	985	34	2	900	2	ERLIN2	8	37611432	Splice_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08	6629359	37611432	108752590	612	109701											
AGPAT6	137964	broad.mit.edu	37	chr8	41467268	41467268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggacaacactccagagttCgagctctctgacattttcta	7	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:41467268C>T	uc003xnz.2	+	4	1269	c.330C>T	c.(328-330)TTC>TTT	p.F110F		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	110					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				0	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)			CTCCAGAGTTCGAGCTCTCTG	0.448													T	41467268	C	T	41467268	2	4	198	1	0	0	0	0	0	0	0	1	391	883	31	1		1	AGPAT6	8	41467268	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3855836	41467268	104896754	613	109702											
PXDNL	137902	broad.mit.edu	37	chr8	52322009	52322009	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgtcgtgggcgcggtacttCgcatggaaacaccggttgga	15	11	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:52322009C>T	uc003xqu.3	-	17	2276	c.2175G>A	c.(2173-2175)GCG>GCA	p.A725A	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	725					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGTACTTCGCATGGAAAC	0.657													T	52322009	C	T	52322009	2	4	198	1	0	0	0	0	0	0	0	1	12848	871	31	1		1	PXDNL	8	52322009	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	10854741	52322009	94042013	614	109703											
ST18	9705	broad.mit.edu	37	chr8	53038681	53038681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgataacttgtgcatTgagaggacatccagataagc	9	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:53038681T>C	uc003xqz.2	-	18	2842	c.2686A>G	c.(2686-2688)AAT>GAT	p.N896D	ST18_uc011ldq.1_Missense_Mutation_p.N543D|ST18_uc011ldr.1_Missense_Mutation_p.N861D|ST18_uc011lds.1_Missense_Mutation_p.N801D|ST18_uc003xra.2_Missense_Mutation_p.N896D	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	896	C2HC-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTTGTGCATTGAGAGGACAT	0.373													C	53038681	T	C	53038681	3	2	198	1	0	0	0	0	1	0	0	0	15211	1812	63	3	473	3	ST18	8	53038681	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	716672	53038681	93325341	615	109704											
TCEA1	6917	broad.mit.edu	37	chr8	54906257	54906257	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctcagggctgttctgCgatgtaattgcaggttcttt	11	9	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:54906257C>A	uc003xru.2	-	4	614	c.291G>T	c.(289-291)TCG>TCT	p.S97S	TCEA1_uc003xrv.2_Silent_p.S76S|TCEA1_uc011ldw.1_Intron|TCEA1_uc003xrw.1_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	97					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				0		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)			GGCTGTTCTGCGATGTAATTG	0.368			T	PLAG1	salivary adenoma								A	54906257	C	A	54906257	2	1	198	1	0	0	0	0	0	0	0	1	15664	755	27	5		5	TCEA1	8	54906257	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1867576	54906257	91457765	616	109705											
RP1	6101	broad.mit.edu	37	chr8	55534132	55534132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagctgtacgctacggaCggaaggagggtgagcgttct	16	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:55534132C>T	uc003xsd.1	+	2	754	c.606C>T	c.(604-606)GAC>GAT	p.D202D	RP1_uc011ldy.1_Silent_p.D202D	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	202	Doublecortin 2.		D -> E (in RP1).		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			skin(7)|ovary(4)|pancreas(1)	12		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)			ACGCTACGGACGGAAGGAGGG	0.577													T	55534132	C	T	55534132	2	4	198	1	0	0	0	0	0	0	0	1	13532	535	19	1		1	RP1	8	55534132	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	627875	55534132	90829890	617	109706											
RP1	6101	broad.mit.edu	37	chr8	55538400	55538400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgaatttgctcagtgtgGtttaacaaaacttccaaaaa	6	6	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:55538400G>A	uc003xsd.1	+	4	2106	c.1958G>A	c.(1957-1959)GGT>GAT	p.G653D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	653					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			skin(7)|ovary(4)|pancreas(1)	12		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)			GCTCAGTGTGGTTTAACAAAA	0.358													A	55538400	G	A	55538400	3	1	198	1	0	0	0	0	1	0	0	0	13532	1261	44	4	1968	4	RP1	8	55538400	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4268	55538400	90825622	618	109707											
NSMAF	8439	broad.mit.edu	37	chr8	59498296	59498296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgactgccagataaaacGgaatttccatcccagacaaa	7	11	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:59498296G>A	uc003xtt.2	-	30	2788	c.2574C>T	c.(2572-2574)TCC>TCT	p.S858S	NSMAF_uc011lee.1_Silent_p.S889S	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	858					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				CAGATAAAACGGAATTTCCAT	0.453													A	59498296	G	A	59498296	2	1	198	1	0	0	0	0	0	0	0	1	10674	1103	39	1		1	NSMAF	8	59498296	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3959896	59498296	86865726	619	109708											
C8orf34	116328	broad.mit.edu	37	chr8	69380980	69380980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggactaaaccacaaagcCgtgattttgatgaattgaat	10	6	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:69380980C>T	uc010lyz.2	+	4	452	c.403C>T	c.(403-405)CGT>TGT	p.R135C	C8orf34_uc010lyy.1_Missense_Mutation_p.R135C|C8orf34_uc003xyb.2_Missense_Mutation_p.R110C	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	135					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACCACAAAGCCGTGATTTTGA	0.383													T	69380980	C	T	69380980	3	4	198	1	0	0	0	0	1	0	0	0	2422	652	23	1	338	1	C8orf34	8	69380980	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	9882684	69380980	76983042	620	109709											
ZFHX4	79776	broad.mit.edu	37	chr8	77765696	77765696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacactggtttagaaataCgctttttaaggaacgacaga	8	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:77765696C>T	uc003yav.2	+	10	6791	c.6404C>T	c.(6403-6405)ACG>ATG	p.T2135M	ZFHX4_uc003yau.1_Missense_Mutation_p.T2180M|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2135M	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2135	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTAGAAATACGCTTTTTAAG	0.373										HNSCC(33;0.089)			T	77765696	C	T	77765696	3	4	198	1	0	0	0	0	1	0	0	0	17632	536	19	1	6573	1	ZFHX4	8	77765696	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	8384716	77765696	68598326	621	109710											
E2F5	1875	broad.mit.edu	37	chr8	86089786	86089786	+	Frame_Shift_Del	DEL	C	C	-													gccgccgcagctcgggggcgCcgggggcggcagcagcaggc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:86089786delC	uc003ycz.3	+	1	168	c.131delC	c.(130-132)GCCfs	p.A44fs	E2F5_uc003yda.3_Frame_Shift_Del_p.A44fs	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	44					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						cTCGGGGGCGCCGGGGGCGGC	0.493													-	86089786	C	-	86089786	7	5	198	1	0	1	0	1	0	0	0	0	4870	739	26	0	133	0	E2F5	8	86089786	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	8324090	86089786	60274236	622	109711											
WWP1	11059	broad.mit.edu	37	chr8	87424099	87424099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacacagaaaccttgccaTcagggtatgttaagcttttt	7	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:87424099T>G	uc003ydt.2	+	9	1337	c.1057T>G	c.(1057-1059)TCA>GCA	p.S353A	WWP1_uc010mai.2_Missense_Mutation_p.S129A	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	353	WW 1.				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			lung(1)|liver(1)	2						AACCTTGCCATCAGGGTATGT	0.403													G	87424099	T	G	87424099	3	3	198	1	0	0	0	0	1	0	0	0	17412	1435	50	5	1083	5	WWP1	8	87424099	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1334313	87424099	58939923	623	109712											
OSGIN2	734	broad.mit.edu	37	chr8	90937134	90937134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataaacaaaggaaagttgCgtggcaaagtggatccagtg	12	6	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:90937134C>T	uc003yeg.2	+	6	1238	c.892C>T	c.(892-894)CGT>TGT	p.R298C	OSGIN2_uc003yeh.2_Missense_Mutation_p.R342C	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	298					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGGAAAGTTGCGTGGCAAAGT	0.438													T	90937134	C	T	90937134	3	4	198	1	0	0	0	0	1	0	0	0	11290	768	27	1	1046	1	OSGIN2	8	90937134	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3513035	90937134	55426888	624	109713											
OSGIN2	734	broad.mit.edu	37	chr8	90937459	90937459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgaagaaaatatttaagcTgtctgcagcagtagtattga	9	4	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:90937459T>G	uc003yeg.2	+	6	1563	c.1217T>G	c.(1216-1218)CTG>CGG	p.L406R	OSGIN2_uc003yeh.2_Missense_Mutation_p.L450R	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	406					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATATTTAAGCTGTCTGCAGCA	0.423													G	90937459	T	G	90937459	3	3	198	1	0	0	0	0	1	0	0	0	11290	1580	55	5	1371	5	OSGIN2	8	90937459	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	325	90937459	55426563	625	109714											
TMEM67	91147	broad.mit.edu	37	chr8	94794663	94794663	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggctaaatgctgcttattCatttggaacaacctaccaac	6	10	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:94794663C>T	uc011lgk.1	+	11	1177	c.1106C>T	c.(1105-1107)TCA>TTA	p.S369L	TMEM67_uc010mat.1_Missense_Mutation_p.S284L|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.S288L	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	369					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			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGCTTATTCATTTGGAACA	0.303													T	94794663	C	T	94794663	3	4	198	1	0	0	0	0	1	0	0	0	16193	838	29	4	1286	4	TMEM67	8	94794663	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3857204	94794663	51569359	626	109715											
PGCP	10404	broad.mit.edu	37	chr8	97978250	97978250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctttatatcatgggaaGcactctcacttattaaagat	7	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:97978250G>A	uc003yhw.2	+	5	1103	c.937G>A	c.(937-939)GCA>ACA	p.A313T	PGCP_uc010mbe.2_Missense_Mutation_p.A313T	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	313					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					ATCATGGGAAGCACTCTCACT	0.393													A	97978250	G	A	97978250	3	1	198	1	0	0	0	0	1	0	0	0	11786	971	34	2	951	2	PGCP	8	97978250	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3183587	97978250	48385772	627	109716											
RGS22	26166	broad.mit.edu	37	chr8	101054050	101054050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggttcttctgtataagCgtatcttctatccagctggg	9	10	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:101054050C>T	uc003yjb.1	-	12	2113	c.1918G>A	c.(1918-1920)GCT>ACT	p.A640T	RGS22_uc003yja.1_Missense_Mutation_p.A459T|RGS22_uc003yjc.1_Missense_Mutation_p.A628T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	640					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTGTATAAGCGTATCTTCTA	0.358													T	101054050	C	T	101054050	3	4	198	1	0	0	0	0	1	0	0	0	13305	768	27	1	1940	1	RGS22	8	101054050	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3075800	101054050	45309972	628	109717											
RGS22	26166	broad.mit.edu	37	chr8	101092490	101092491	+	Frame_Shift_Ins	INS	-	-	T													ggttgctggttttgtagaatINSttttttcagttgtttttcca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:101092489_101092490A>AT	uc003yjb.1	-	3	406_407	c.211_212T>AT	c.(211-213)attfs	p.I71fs	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Frame_Shift_Ins_p.I71fs|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_5'UTR	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	71					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)			GTTTTGTAGAATTTTTTTCAGT	0.361													T	101092491	-	T	101092490	7	5	198	1	0	1	1	0	0	0	0	0	13305	1493	52	0	3679	0	RGS22	8	101092490	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	38440	101092490	45271532	629	109718											
GRHL2	79977	broad.mit.edu	37	chr8	102589666	102589666	+	Frame_Shift_Del	DEL	A	A	-													tggtggtcttcagtgaagacAaaaacagagatgaacagctc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:102589665_102589665CA>C	uc010mbu.3	+	6	1251	c.921_921CA>C	c.(919-921)gacfs	p.D307fs		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	307						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)			TCAGTGAAGACAAAAACAGAG	0.483													-	102589666	A	-	102589666	7	5	198	1	0	1	0	1	0	0	0	0	6764	131	5	0	948	0	GRHL2	8	102589666	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	1497176	102589666	43774356	630	109719											
UBR5	51366	broad.mit.edu	37	chr8	103274148	103274148	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatatttgctttacctgtcCtccaccttcttctttacaca	3	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:103274148C>A	uc003ykr.1	-	55	7870	c.7837G>T	c.(7837-7839)GGA>TGA	p.G2613*	UBR5_uc003yks.1_Nonsense_Mutation_p.G2612*|UBR5_uc003ykq.2_Nonsense_Mutation_p.G124*	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2613	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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			TTTACCTGTCCTCCACCTTCT	0.408													A	103274148	C	A	103274148	4	1	198	1	0	0	0	0	0	1	0	0	16902	690	24	5	582	5	UBR5	8	103274148	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	684482	103274148	43089874	631	109720											
UBR5	51366	broad.mit.edu	37	chr8	103297902	103297902	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatgttaggtaactgcTggcgttgctagcttccaaag	12	8	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:103297902T>G	uc003ykr.1	-	39	5356	c.5323A>C	c.(5323-5325)AGC>CGC	p.S1775R	UBR5_uc003yks.1_Missense_Mutation_p.S1775R	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1775					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			AGGTAACTGCTGGCGTTGCTA	0.463													G	103297902	T	G	103297902	3	3	198	1	0	0	0	0	1	0	0	0	16902	1580	55	5	3160	5	UBR5	8	103297902	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	23754	103297902	43066120	632	109721											
RIMS2	9699	broad.mit.edu	37	chr8	105263283	105263283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgtatctattagataaCggagtctgcatagccaaaaa	8	6	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:105263283C>T	uc003yls.2	+	27	4018	c.3777C>T	c.(3775-3777)AAC>AAT	p.N1259N	RIMS2_uc003ylp.2_Silent_p.N1241N|RIMS2_uc003ylw.2_Silent_p.N1248N|RIMS2_uc003ylq.2_Silent_p.N1055N|RIMS2_uc003ylr.2_Silent_p.N1080N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1303	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATTAGATAACGGAGTCTGCA	0.423										HNSCC(12;0.0054)			T	105263283	C	T	105263283	2	4	198	1	0	0	0	0	0	0	0	1	13368	535	19	1		1	RIMS2	8	105263283	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1965381	105263283	41100739	633	109722											
SYBU	55638	broad.mit.edu	37	chr8	110587156	110587156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggttttgatacggaaggcGgtgcggcggagcgaatgcag	18	6	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:110587156G>A	uc003ynj.3	-	7	2134	c.1971C>T	c.(1969-1971)ACC>ACT	p.T657T	SYBU_uc003yni.3_Silent_p.T654T|SYBU_uc003ynk.3_Silent_p.T538T|SYBU_uc010mco.2_Silent_p.T656T|SYBU_uc003ynl.3_Silent_p.T656T|SYBU_uc010mcp.2_Silent_p.T657T|SYBU_uc010mcq.2_Silent_p.T657T|SYBU_uc003yno.3_Silent_p.T538T|SYBU_uc010mcr.2_Silent_p.T657T|SYBU_uc003ynm.3_Silent_p.T656T|SYBU_uc003ynn.3_Silent_p.T656T|SYBU_uc010mcs.2_Silent_p.T538T|SYBU_uc010mct.2_Silent_p.T657T|SYBU_uc010mcu.2_Silent_p.T656T|SYBU_uc003ynp.3_Silent_p.T589T|SYBU_uc010mcv.2_Silent_p.T657T|SYBU_uc003ynh.3_Silent_p.T451T|SYBU_uc011lhw.1_Silent_p.T527T	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	657						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.R657H(1)		ovary(1)	1						TACGGAAGGCGGTGCGGCGGA	0.532													A	110587156	G	A	110587156	2	1	198	1	0	0	0	0	0	0	0	1	15424	1103	39	1		1	SYBU	8	110587156	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5323873	110587156	35776866	634	109723											
MED30	90390	broad.mit.edu	37	chr8	118543004	118543004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatggctcaaagaatgatGatcgggctggcccacctcgt	12	10	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:118543004G>A	uc003yoj.2	+	3	530	c.379G>A	c.(379-381)GAT>AAT	p.D127N	MED30_uc011lib.1_Intron	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	127					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				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			AAAGAATGATGATCGGGCTGG	0.338													A	118543004	G	A	118543004	3	1	198	1	0	0	0	0	1	0	0	0	9448	1290	45	4	389	4	MED30	8	118543004	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7955848	118543004	27821018	635	109724											
EXT1	2131	broad.mit.edu	37	chr8	119122904	119122904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttttggtaactttcggCgattttctcccctttttgct	7	9	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:119122904C>T	uc003yok.1	-	1	1155	c.382G>A	c.(382-384)GCC>ACC	p.A128T		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	128	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TAACTTTCGGCGATTTTCTCC	0.512			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	119122904	C	T	119122904	3	4	198	1	0	0	0	0	1	0	0	0	5323	768	27	1	1902	1	EXT1	8	119122904	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	579900	119122904	27241118	636	109725											
ENPP2	5168	broad.mit.edu	37	chr8	120581581	120581581	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaggccggacgcaactggtCagatggtcaggaacgctgga	15	10	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:120581581C>A	uc003yot.1	-	21	2033	c.1947G>T	c.(1945-1947)CTG>CTT	p.L649L	ENPP2_uc011lic.1_Silent_p.L187L|ENPP2_uc003yor.1_Silent_p.L284L|ENPP2_uc003yos.1_Silent_p.L701L|ENPP2_uc010mdd.1_Silent_p.L674L	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	649					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			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGCAACTGGTCAGATGGTCAG	0.522													A	120581581	C	A	120581581	2	1	198	1	0	0	0	0	0	0	0	1	5130	813	29	5		5	ENPP2	8	120581581	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1458677	120581581	25782441	637	109726											
FAM91A1	157769	broad.mit.edu	37	chr8	124798813	124798813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtacaagaagcttcatcGgcaactgacactgatacaaa	7	11	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:124798813G>A	uc003yqv.2	+	12	1102	c.1041G>A	c.(1039-1041)TCG>TCA	p.S347S	FAM91A1_uc011lik.1_Silent_p.S347S|FAM91A1_uc011lil.1_Silent_p.S105S	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	347										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAGCTTCATCGGCAACTGACA	0.423													A	124798813	G	A	124798813	2	1	198	1	0	0	0	0	0	0	0	1	5651	1103	39	1		1	FAM91A1	8	124798813	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4217232	124798813	21565209	638	109727											
MTSS1	9788	broad.mit.edu	37	chr8	125565503	125565503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttaacggaagcttggccGctccacattgaggagggcat	15	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:125565503G>A	uc003yrk.2	-	14	2532	c.1998C>T	c.(1996-1998)AGC>AGT	p.S666S	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.S315S|MTSS1_uc011lin.1_Silent_p.S440S|MTSS1_uc011lio.1_Silent_p.S556S|MTSS1_uc003yri.2_Silent_p.S384S|MTSS1_uc003yrj.2_Silent_p.S641S|MTSS1_uc003yrl.2_Silent_p.S670S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	666	Pro-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			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGCTTGGCCGCTCCACATTG	0.607													A	125565503	G	A	125565503	2	1	198	1	0	0	0	0	0	0	0	1	9962	1078	38	1		1	MTSS1	8	125565503	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	766690	125565503	20798519	639	109728											
ZNF572	137209	broad.mit.edu	37	chr8	125987893	125987893	+	Frame_Shift_Del	DEL	A	A	-													gatcattgtgatggagcaagAaaaaaaactgttggtctcag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:125987892_125987892GA>G	uc003yrr.3	+	1	165	c.10_10GA>G	c.(10-12)gaafs	p.E4fs		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E4Q(2)		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)			GATGGAGCAAGAAAAAAAACT	0.398										HNSCC(60;0.17)			-	125987893	A	-	125987893	7	5	198	1	0	1	0	1	0	0	0	0	18001	246	9	0	13	0	ZNF572	8	125987893	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	422390	125987893	20376129	640	109729											
ASAP1	50807	broad.mit.edu	37	chr8	131130877	131130877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaggtcttccttgaaaacCtatgatctacatactttgca	5	10	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:131130877C>A	uc003yta.1	-	18	1680	c.1652G>T	c.(1651-1653)AGG>ATG	p.R551M	ASAP1_uc003ysz.1_Missense_Mutation_p.R362M|ASAP1_uc011liw.1_Missense_Mutation_p.R544M	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	551	Arf-GAP.				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			ovary(4)	4						CCTTGAAAACCTATGATCTAC	0.338													A	131130877	C	A	131130877	3	1	198	1	0	0	0	0	1	0	0	0	1010	681	24	5	1785	5	ASAP1	8	131130877	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5142984	131130877	15233145	641	109730											
ASAP1	50807	broad.mit.edu	37	chr8	131165019	131165019	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagaatcccattcttgactGaacacttcctcctctgccat	4	15	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:131165019G>A	uc003yta.1	-	12	1071	c.1043C>T	c.(1042-1044)TCA>TTA	p.S348L	ASAP1_uc003ysz.1_Missense_Mutation_p.S159L|ASAP1_uc011liw.1_Missense_Mutation_p.S341L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	348	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			ovary(4)	4						ATTCTTGACTGAACACTTCCT	0.433													A	131165019	G	A	131165019	3	1	198	1	0	0	0	0	1	0	0	0	1010	1294	45	4	2418	4	ASAP1	8	131165019	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	34142	131165019	15199003	642	109731											
TG	7038	broad.mit.edu	37	chr8	133883670	133883670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagacacctcctacctcCctcagtgtcaggattcaggg	9	15	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:133883670C>T	uc003ytw.2	+	4	393	c.352C>T	c.(352-354)CCT>TCT	p.P118S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	118	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		CTCCTACCTCCCTCAGTGTCA	0.527													T	133883670	C	T	133883670	3	4	198	1	0	0	0	0	1	0	0	0	15810	623	22	4	366	4	TG	8	133883670	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2718651	133883670	12480352	643	109732											
TG	7038	broad.mit.edu	37	chr8	134125772	134125772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgcgtcgaggctgctgCtacatggtattactctctgg	12	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:134125772C>T	uc003ytw.2	+	44	7720	c.7679C>T	c.(7678-7680)GCT>GTT	p.A2560V	TG_uc010mdw.2_Missense_Mutation_p.A1319V|TG_uc011ljb.1_Missense_Mutation_p.A929V|TG_uc011ljc.1_Missense_Mutation_p.A693V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2560					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		GAGGCTGCTGCTACATGGTAT	0.577													T	134125772	C	T	134125772	3	4	198	1	0	0	0	0	1	0	0	0	15810	797	28	2	7853	2	TG	8	134125772	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	242102	134125772	12238250	644	109733											
NDRG1	10397	broad.mit.edu	37	chr8	134292508	134292508	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcaggaggccggtgatGgtctgtgaaaagacaaaaaa	13	6	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:134292508G>T	uc003yuh.2	-	3	652	c.66C>A	c.(64-66)ACC>ACA	p.T22T	NDRG1_uc003yug.2_Silent_p.T22T|NDRG1_uc010mee.2_5'UTR|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	22					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	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)			GGCCGGTGATGGTCTGTGAAA	0.418													T	134292508	G	T	134292508	2	4	198	1	0	0	0	0	0	0	0	1	10251	1335	47	5		5	NDRG1	8	134292508	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	166736	134292508	12071514	645	109734											
FLJ43860	389690	broad.mit.edu	37	chr8	142500310	142500310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgctgcgccaccacccGccacgagtgcctgcagatgg	12	16	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:142500310G>A	uc003ywi.2	-	5	685	c.604C>T	c.(604-606)CGG>TGG	p.R202W	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	202							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GCCACCACCCGCCACGAGTGC	0.652													A	142500310	G	A	142500310	3	1	198	1	0	0	0	0	1	0	0	0	5930	1086	38	1	3456	1	FLJ43860	8	142500310	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	8207802	142500310	3863712	646	109735											
ZFP41	286128	broad.mit.edu	37	chr8	144332324	144332324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaagacagaccacattcGccatcagagggtccacactg	9	14	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:144332324G>A	uc003yxw.2	+	2	669	c.311G>A	c.(310-312)CGC>CAC	p.R104H	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	104	C2H2-type 1.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			GACCACATTCGCCATCAGAGG	0.547													A	144332324	G	A	144332324	3	1	198	1	0	0	0	0	1	0	0	0	17646	1087	38	1	313	1	ZFP41	8	144332324	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1832014	144332324	2031698	647	109736											
FAM83H	286077	broad.mit.edu	37	chr8	144810216	144810216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgaagcttctcgaacAggccttgcgggcgcgccggc	14	17	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:144810216A>G	uc003yzk.2	-	5	1484	c.1415T>C	c.(1414-1416)CTG>CCG	p.L472P	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	472					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			CTTCTCGAACAGGCCTTGCGG	0.711													G	144810216	A	G	144810216	3	3	198	1	0	0	0	0	1	0	0	0	5640	188	7	3	2128	3	FAM83H	8	144810216	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	477892	144810216	1553806	648	109737											
EPPK1	83481	broad.mit.edu	37	chr8	144944068	144944068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggggagggcaggagcActttctggcaggggcaggag	21	7	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:144944068A>G	uc003zaa.1	-	1	3367	c.3354T>C	c.(3352-3354)AGT>AGC	p.S1118S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1118						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			GGGCAGGAGCACTTTCTGGCA	0.687													G	144944068	A	G	144944068	2	3	198	1	0	0	0	0	0	0	0	1	5190	156	6	3		3	EPPK1	8	144944068	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	133852	144944068	1419954	649	109738											
PARP10	84875	broad.mit.edu	37	chr8	145059434	145059434	+	Frame_Shift_Del	DEL	G	G	-													gggctccaggatgtcgtagtGggggacaaggctcagctctg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145059434delG	uc003zal.3	-	5	844	c.736delC	c.(736-738)CACfs	p.H246fs	PARP10_uc003zak.3_5'UTR|PARP10_uc011lku.1_Frame_Shift_Del_p.H258fs|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Frame_Shift_Del_p.H246fs|PARP10_uc010mfn.1_Frame_Shift_Del_p.H161fs|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	246						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			atgtcgtagtgggggacaagg	0.294													-	145059434	G	-	145059434	7	5	198	1	0	1	0	1	0	0	0	0	11455	1348	47	0	2369	0	PARP10	8	145059434	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	115366	145059434	1304588	650	109739											
PARP10	84875	broad.mit.edu	37	chr8	145059498	145059498	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacactcgttctgccacTtggaggaagggaaaggacag	13	9	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145059498T>A	uc003zal.3	-	5	782	c.674_splice	c.e5-1	p.V225_splice	PARP10_uc003zak.3_Splice_Site|PARP10_uc011lku.1_Splice_Site_p.V237_splice|PARP10_uc011lkv.1_Splice_Site|PARP10_uc003zam.2_Splice_Site_p.V225_splice|PARP10_uc010mfn.1_Intron|PARP10_uc010mfo.1_Intron	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10							Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			gttctgccacttggaggaagg	0.269													A	145059498	T	A	145059498	5	1	198	1	0	0	0	0	0	0	1	0	11455	1623	56	5	2433	5	PARP10	8	145059498	Splice_Site	SNP	T	TCGA-CG-5733-01A-11D-1600-08	64	145059498	1304524	651	109740											
PARP10	84875	broad.mit.edu	37	chr8	145060298	145060298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtccccctccagagcGtcggcggttttcaaagtaga	11	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145060298G>A	uc003zal.3	-	2	214	c.106C>T	c.(106-108)CGC>TGC	p.R36C	PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Missense_Mutation_p.R48C|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.R36C|PARP10_uc010mfn.1_Missense_Mutation_p.R36C|PARP10_uc010mfo.1_Intron	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	36						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			CCTCCAGAGCGTCGGCGGTTT	0.652													A	145060298	G	A	145060298	3	1	198	1	0	0	0	0	1	0	0	0	11455	1145	40	1	3011	1	PARP10	8	145060298	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	800	145060298	1303724	652	109741											
ADCK5	203054	broad.mit.edu	37	chr8	145617902	145617902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaccgctacttccttAtggctaaaaggtcggtggcc	12	12	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145617902A>G	uc003zch.2	+	13	1564	c.1510A>G	c.(1510-1512)ATG>GTG	p.M504V	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_Missense_Mutation_p.M93V	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	504						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	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)			CTACTTCCTTATGGCTAAAAG	0.706													G	145617902	A	G	145617902	3	3	198	1	0	0	0	0	1	0	0	0	291	449	16	3	1560	3	ADCK5	8	145617902	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	557604	145617902	746120	653	109742											
CPSF1	29894	broad.mit.edu	37	chr8	145619218	145619218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccacgtggaagtctgcccGacgcagcaggcgcatgcccc	12	17	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145619218G>A	uc003zcj.2	-	35	3970	c.3895C>T	c.(3895-3897)CGG>TGG	p.R1299W		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1299					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			skin(1)	1	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)			AAGTCTGCCCGACGCAGCAGG	0.657													A	145619218	G	A	145619218	3	1	198	1	0	0	0	0	1	0	0	0	3824	1057	37	1	452	1	CPSF1	8	145619218	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1316	145619218	744804	654	109743											
MFSD3	113655	broad.mit.edu	37	chr8	145736269	145736269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcgctgcagccagctgGcccccagggccctgcaggtg	15	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145736269G>C	uc003zdi.1	+	4	1213	c.1048G>C	c.(1048-1050)GCC>CCC	p.A350P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	350	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	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)			CAGCCAGCTGGCCCCCAGGGC	0.647													C	145736269	G	C	145736269	3	2	198	1	0	0	0	0	1	0	0	0	9532	1203	42	5	1062	5	MFSD3	8	145736269	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	117051	145736269	627753	655	109744											
DOCK8	81704	broad.mit.edu	37	chr9	428479	428479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgctttgcaacactcCgtgctctcatcgccaaggta	7	15	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:428479C>T	uc003zgf.2	+	35	4568	c.4456C>T	c.(4456-4458)CGT>TGT	p.R1486C	DOCK8_uc010mgu.2_Missense_Mutation_p.R788C|DOCK8_uc010mgv.2_Missense_Mutation_p.R1386C|DOCK8_uc003zgk.2_Missense_Mutation_p.R944C	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1486	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		TGCAACACTCCGTGCTCTCAT	0.468													T	428479	C	T	428479	3	4	198	1	0	0	0	0	1	0	0	0	4693	652	23	1	4594	1	DOCK8	9	428479	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08		428479	140784952	656	109745											
KANK1	23189	broad.mit.edu	37	chr9	676999	676999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccacaaaggttaacggCagtgcctcaggtaaccctgt	9	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:676999C>T	uc003zgl.1	+	6	676	c.27C>T	c.(25-27)GGC>GGT	p.G9G	KANK1_uc003zgm.2_Silent_p.G9G|KANK1_uc003zgn.1_Silent_p.G9G|KANK1_uc003zgo.1_Silent_p.G9G|KANK1_uc003zgp.1_Silent_p.G9G	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	9					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		AGGTTAACGGCAGTGCCTCAG	0.398													T	676999	C	T	676999	2	4	198	1	0	0	0	0	0	0	0	1	7976	697	25	2		2	KANK1	9	676999	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	248520	676999	140536432	657	109746											
KANK1	23189	broad.mit.edu	37	chr9	712829	712829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttcaccaacaccgagaCggccaccctcatagagtcct	7	17	2	2	rs146648084	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:712829C>T	uc003zgl.1	+	7	2712	c.2063C>T	c.(2062-2064)ACG>ATG	p.T688M	KANK1_uc003zgm.2_Missense_Mutation_p.T688M|KANK1_uc003zgn.1_Missense_Mutation_p.T688M|KANK1_uc003zgo.1_Missense_Mutation_p.T688M|KANK1_uc003zgp.1_Missense_Mutation_p.T688M|KANK1_uc003zgq.2_Missense_Mutation_p.T530M|KANK1_uc003zgr.1_Missense_Mutation_p.T530M|KANK1_uc003zgs.1_Missense_Mutation_p.T530M	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	688					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		AACACCGAGACGGCCACCCTC	0.557													T	712829	C	T	712829	3	4	198	1	0	0	0	0	1	0	0	0	7976	536	19	1	2069	1	KANK1	9	712829	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	35830	712829	140500602	658	109747											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18706941	18706941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggaaattcctgagttcAacccagacgagacagatggg	14	9	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:18706941A>G	uc003zne.3	+	14	1898	c.1771A>G	c.(1771-1773)AAC>GAC	p.N591D		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	591						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCTGAGTTCAACCCAGACGA	0.582													G	18706941	A	G	18706941	3	3	198	1	0	0	0	0	1	0	0	0	274	130	5	3	1829	3	ADAMTSL1	9	18706941	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	17994112	18706941	122506490	659	109748											
C9orf82	79886	broad.mit.edu	37	chr9	26842535	26842535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccagcttcactttggaCtgtattttctggtgcctcgg	10	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:26842535C>T	uc003zqc.2	-	6	862	c.850G>A	c.(850-852)GTC>ATC	p.V284I	C9orf82_uc003zqb.2_Missense_Mutation_p.V139I	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	284	Potential.										0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TCACTTTGGACTGTATTTTCT	0.458													T	26842535	C	T	26842535	3	4	198	1	0	0	0	0	1	0	0	0	2499	565	20	4	239	4	C9orf82	9	26842535	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	8135594	26842535	114370896	660	109749											
PLAA	9373	broad.mit.edu	37	chr9	26919401	26919401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctacttgatccagaaacaTaggattcaaatcattcttct	5	9	4	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:26919401T>C	uc003zqd.2	-	9	1749	c.1324A>G	c.(1324-1326)ATG>GTG	p.M442V	PLAA_uc003zqe.2_Missense_Mutation_p.M442V	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	442	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCCAGAAACATAGGATTCAAA	0.353													C	26919401	T	C	26919401	3	2	198	1	0	0	0	0	1	0	0	0	12011	1406	49	3	1087	3	PLAA	9	26919401	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	76866	26919401	114294030	661	109750											
ACO1	48	broad.mit.edu	37	chr9	32418455	32418455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attattacccagacagcctcGtgggcacagactcgcacact	8	14	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:32418455G>A	uc003zqw.3	+	6	759	c.604G>A	c.(604-606)GTG>ATG	p.V202M	ACO1_uc010mjh.1_Missense_Mutation_p.V36M|ACO1_uc003zqx.3_Missense_Mutation_p.V202M|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	202					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				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGACAGCCTCGTGGGCACAGA	0.458													A	32418455	G	A	32418455	3	1	198	1	0	0	0	0	1	0	0	0	146	1145	40	1	622	1	ACO1	9	32418455	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5499054	32418455	108794976	662	109751											
BAG1	573	broad.mit.edu	37	chr9	33261170	33261170	+	Splice_Site	DEL	A	A	-													tttccttcagagattttcctAaaaagaggagaaaggtaggc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:33261169_33261169TA>T	uc003zsj.3	-	3	668	c.581_splice	c.e3-1	p.G194_splice	BAG1_uc003zsi.3_Splice_Site_p.G56_splice	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	194	Interaction with HSPA8.|Ubiquitin-like.				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)			GAGATTTTCCTAAAAAGAGGA	0.373													-	33261170	A	-	33261170	8	5	198	1	0	1	0	1	0	0	1	0	1286	377	13	0		0	BAG1	9	33261170	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	842715	33261170	107952261	663	109752											
AQP7	364	broad.mit.edu	37	chr9	33386192	33386192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaaagtggagaatggcCgctgcggagacacagactgt	14	10	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:33386192C>T	uc003zst.2	-	6	580	c.408G>A	c.(406-408)ACG>ACA	p.T136T	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.T79T|AQP7_uc010mjs.2_Silent_p.T44T|AQP7_uc010mjt.2_Silent_p.T44T|AQP7_uc011lnx.1_Silent_p.T136T|AQP7_uc011lny.1_Silent_p.T135T|AQP7_uc003zss.3_Silent_p.T44T|AQP7_uc011lnz.1_Silent_p.T44T|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	136	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGAGAATGGCCGCTGCGGAGA	0.567													T	33386192	C	T	33386192	2	4	198	1	0	0	0	0	0	0	0	1	831	666	23	1		1	AQP7	9	33386192	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	125022	33386192	107827239	664	109753											
NOL6	65083	broad.mit.edu	37	chr9	33466944	33466945	+	Frame_Shift_Ins	INS	-	-	C													gataagtgcatccagggggcINScccccacatagtggacacag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:33466943_33466944G>GC	uc003zsz.3	-	14	2017_2018	c.1916_1917C>GC	c.(1915-1917)ggcfs	p.G639fs	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Frame_Shift_Ins_p.G639fs|NOL6_uc010mjv.3_Frame_Shift_Ins_p.G636fs|NOL6_uc011lob.2_Frame_Shift_Ins_p.G587fs|NOL6_uc003ztb.1_Frame_Shift_Ins_p.G639fs	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	639					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)		CATCCAGGGGGCCCCCCACATA	0.52											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	33466945	-	C	33466944	7	5	198	1	0	1	1	0	0	0	0	0	10525	739	26	0	1572	0	NOL6	9	33466944	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	80752	33466944	107746487	665	109754											
KIF24	347240	broad.mit.edu	37	chr9	34271901	34271901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactccagtggccccagtgcTgcgctccttgctgcccttta	9	16	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:34271901T>C	uc003zua.3	-	7	1363	c.1243A>G	c.(1243-1245)AGC>GGC	p.S415G	KIF24_uc010mkb.2_Missense_Mutation_p.S446G	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	415	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCCCCAGTGCTGCGCTCCTTG	0.498													C	34271901	T	C	34271901	3	2	198	1	0	0	0	0	1	0	0	0	8292	1580	55	3	2891	3	KIF24	9	34271901	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	804957	34271901	106941530	666	109755											
NUDT2	318	broad.mit.edu	37	chr9	34339041	34339041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttaggataagaccatgGccttgagagcatgtggcttg	13	8	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:34339041G>A	uc003zub.2	+	4	362	c.4G>A	c.(4-6)GCC>ACC	p.A2T	NUDT2_uc003zuc.2_Missense_Mutation_p.A2T|NUDT2_uc003zud.2_Missense_Mutation_p.A2T	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	2	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TAAGACCATGGCCTTGAGAGC	0.438													A	34339041	G	A	34339041	3	1	198	1	0	0	0	0	1	0	0	0	10737	1203	42	2	6	2	NUDT2	9	34339041	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	67140	34339041	106874390	667	109756											
PIGO	84720	broad.mit.edu	37	chr9	35091523	35091524	+	Frame_Shift_Ins	INS	-	-	G													ccaagtcagcttgagaagtgINSggggggcctgagaagggagt					rs144233446		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35091522_35091523T>TG	uc003zwd.3	-	6	2757_2758	c.2361_2362A>CA	c.(2359-2364)cccactfs	p.P787fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Ins_p.P350fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	787					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													G	35091524	-	G	35091523	7	5	198	1	0	1	1	0	0	0	0	0	11894	1335	47	0	928	0	PIGO	9	35091523	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	752482	35091523	106121908	668	109757											
STOML2	30968	broad.mit.edu	37	chr9	35101481	35101481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatatccttgatctcataaCggaggcagcggataccccag	11	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35101481C>T	uc003zwi.2	-	6	584	c.521G>A	c.(520-522)CGT>CAT	p.R174H	STOML2_uc003zwh.2_Missense_Mutation_p.R65H|STOML2_uc003zwj.2_Missense_Mutation_p.R65H|STOML2_uc011lou.1_Intron|STOML2_uc003zwk.2_Missense_Mutation_p.R123H	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	174						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GATCTCATAACGGAGGCAGCG	0.572													T	35101481	C	T	35101481	3	4	198	1	0	0	0	0	1	0	0	0	15313	536	19	1	569	1	STOML2	9	35101481	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	9958	35101481	106111950	669	109758											
TESK1	7016	broad.mit.edu	37	chr9	35609590	35609590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctcggccccttcagcTttggcttcctgtccatgtgc	10	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35609590T>G	uc003zxa.2	+	10	2068	c.1732T>G	c.(1732-1734)TTT>GTT	p.F578V	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.F418V	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	578					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTTCAGCTTTGGCTTCCT	0.692													G	35609590	T	G	35609590	3	3	198	1	0	0	0	0	1	0	0	0	15764	1609	56	5	1770	5	TESK1	9	35609590	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	508109	35609590	105603841	670	109759											
SPAG8	26206	broad.mit.edu	37	chr9	35810888	35810888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatttcacacctcgaagtGgccaatagacgtttcctggt	8	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35810888G>A	uc003zye.2	-	3	1146	c.1031C>T	c.(1030-1032)CCA>CTA	p.P344L	SPAG8_uc003zyf.2_Missense_Mutation_p.P261L|SPAG8_uc003zyg.2_Missense_Mutation_p.P344L	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	344						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTCGAAGTGGCCAATAGAC	0.547													A	35810888	G	A	35810888	3	1	198	1	0	0	0	0	1	0	0	0	14984	1348	47	4	697	4	SPAG8	9	35810888	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	201298	35810888	105402543	671	109760											
CLTA	1211	broad.mit.edu	37	chr9	36209304	36209304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacaacccttcgctgacGtgattggttatgtgtatgtt	9	8	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:36209304G>A	uc003zzc.2	+	5	688	c.526G>A	c.(526-528)GTG>ATG	p.V176M	CLTA_uc003zzd.2_Missense_Mutation_p.V176M|CLTA_uc003zze.2_Intron|CLTA_uc011lpk.1_Intron|CLTA_uc003zzf.1_Intron	NM_007096	NP_009027	P09496	CLCA_HUMAN	clathrin, light polypeptide A isoform b	176					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|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			CTTCGCTGACGTGATTGGTTA	0.403													A	36209304	G	A	36209304	3	1	198	1	0	0	0	0	1	0	0	0	3564	1145	40	1	544	1	CLTA	9	36209304	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	398416	36209304	105004127	672	109761											
ALDH1B1	219	broad.mit.edu	37	chr9	38396879	38396879	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggctacatccagcttggccaGaaggagggcgcaaaactcct	12	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:38396879G>T	uc004aay.2	+	2	1246	c.1134G>T	c.(1132-1134)CAG>CAT	p.Q378H		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	378					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AGCTTGGCCAGAAGGAGGGCG	0.567													T	38396879	G	T	38396879	3	4	198	1	0	0	0	0	1	0	0	0	493	933	33	5	1136	5	ALDH1B1	9	38396879	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2187575	38396879	102816552	673	109762											
FAM189A2	9413	broad.mit.edu	37	chr9	72003185	72003185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcgcgatgcagaccgcGgtctttgatagattacaaat	10	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:72003185G>A	uc010mon.1	+	10	1072	c.968G>A	c.(967-969)CGG>CAG	p.R323Q	FAM189A2_uc004ahg.2_Missense_Mutation_p.R323Q|FAM189A2_uc010moo.1_Intron	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61 precursor	323						integral to membrane					0						TGCAGACCGCGGTCTTTGATA	0.522													A	72003185	G	A	72003185	3	1	198	1	0	0	0	0	1	0	0	0	5516	1116	39	1	1002	1	FAM189A2	9	72003185	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	33606306	72003185	69210246	674	109763											
MAMDC2	256691	broad.mit.edu	37	chr9	72727953	72727953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgtggctttgtgaaccGctggaatcccaatgtgaact	10	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:72727953G>A	uc004ahm.2	+	5	1165	c.548G>A	c.(547-549)CGC>CAC	p.R183H	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	183	MAM 2.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						TTTGTGAACCGCTGGAATCCC	0.473													A	72727953	G	A	72727953	3	1	198	1	0	0	0	0	1	0	0	0	9203	1087	38	1	566	1	MAMDC2	9	72727953	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	724768	72727953	68485478	675	109764											
TRPM3	80036	broad.mit.edu	37	chr9	73152286	73152286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggagtgctctctctcgTtgacttcctccagccgcata	8	14	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:73152286T>C	uc004aid.2	-	25	3951	c.3707A>G	c.(3706-3708)AAC>AGC	p.N1236S	TRPM3_uc004ahu.2_Missense_Mutation_p.N1078S|TRPM3_uc004ahv.2_Missense_Mutation_p.N1038S|TRPM3_uc004ahw.2_Missense_Mutation_p.N1108S|TRPM3_uc004ahx.2_Missense_Mutation_p.N1095S|TRPM3_uc004ahy.2_Missense_Mutation_p.N1098S|TRPM3_uc004ahz.2_Missense_Mutation_p.N1085S|TRPM3_uc004aia.2_Missense_Mutation_p.N1083S|TRPM3_uc004aib.2_Missense_Mutation_p.N1073S|TRPM3_uc004aic.2_Missense_Mutation_p.N1236S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1261	Cytoplasmic (Potential).|Potential.					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CTCTCTCTCGTTGACTTCCTC	0.602													C	73152286	T	C	73152286	3	2	198	1	0	0	0	0	1	0	0	0	16584	1725	60	3	1420	3	TRPM3	9	73152286	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	424333	73152286	68061145	676	109765											
TRPM3	80036	broad.mit.edu	37	chr9	73213485	73213485	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagacgaaggatcattccGacagaaaacagaaggatggc	13	7	1	3	rs145029936		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:73213485G>A	uc004aid.2	-	20	3106	c.2862C>T	c.(2860-2862)GTC>GTT	p.V954V	TRPM3_uc004ahu.2_Silent_p.V784V|TRPM3_uc004ahv.2_Silent_p.V756V|TRPM3_uc004ahw.2_Silent_p.V826V|TRPM3_uc004ahx.2_Silent_p.V813V|TRPM3_uc004ahy.2_Silent_p.V816V|TRPM3_uc004ahz.2_Silent_p.V803V|TRPM3_uc004aia.2_Silent_p.V801V|TRPM3_uc004aib.2_Silent_p.V791V|TRPM3_uc004aic.2_Silent_p.V954V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	979	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGATCATTCCGACAGAAAACA	0.498													A	73213485	G	A	73213485	2	1	198	1	0	0	0	0	0	0	0	1	16584	1045	37	1		1	TRPM3	9	73213485	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	61199	73213485	67999946	677	109766											
GDA	9615	broad.mit.edu	37	chr9	74817634	74817636	+	In_Frame_Del	DEL	AGA	AGA	-													ttccagaacatcgactttgcAgaagaagtatataccagagt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:74817633_74817635CAGA>C	uc004air.3	+	2	568_570	c.359_361CAGA>C	c.(358-363)gcagaa>gCaa	p.E122del	GDA_uc011lse.2_In_Frame_Del_p.E48del|GDA_uc004aiq.3_In_Frame_Del_p.E122del|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_In_Frame_Del_p.E48del|GDA_uc004ais.3_In_Frame_Del_p.E80del|GDA_uc004ait.1_In_Frame_Del_p.E48del	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	122					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.E121V(1)|p.E122E(1)		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)		ATCGACTTTGCAGAAGAAGTATA	0.409													-	74817636	AGA	-	74817634	7	5	198	1	0	1	0	1	0	0	0	0	6306	175	7	0	370	0	GDA	9	74817634	In_Frame_Del	DEL	AGA	TCGA-CG-5733-01A-11D-1600-08	1604149	74817634	66395797	678	109767											
TMC1	117531	broad.mit.edu	37	chr9	75263574	75263574	+	Frame_Shift_Del	DEL	A	A	-													acacccccaggatgtcacccAaaaaaggtatttacaaaatc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:75263573_75263573CA>C	uc004aiz.1	+	4	549	c.9_9CA>C	c.(7-9)cccfs	p.P3fs	TMC1_uc010moz.1_Frame_Shift_Del_p.P3fs|TMC1_uc004aja.1_Intron|TMC1_uc004ajb.1_Intron|TMC1_uc004ajc.1_Intron|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	3					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						GGATGTCACCCAAAAAAGGTA	0.403													-	75263574	A	-	75263574	7	5	198	1	0	1	0	1	0	0	0	0	15981	131	5	0	12	0	TMC1	9	75263574	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	445940	75263574	65949857	679	109768											
PCSK5	5125	broad.mit.edu	37	chr9	78773924	78773924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccctaacagtgcagtgCgctccatctacaaagcttca	7	15	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:78773924C>T	uc004ajz.2	+	12	1994	c.1456C>T	c.(1456-1458)CGC>TGC	p.R486C	PCSK5_uc004ajy.2_Missense_Mutation_p.R486C|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	486	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			ovary(2)|skin(1)	3						CAGTGCAGTGCGCTCCATCTA	0.542													T	78773924	C	T	78773924	3	4	198	1	0	0	0	0	1	0	0	0	11603	768	27	1	1502	1	PCSK5	9	78773924	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3510350	78773924	62439507	680	109769											
C9orf170	401535	broad.mit.edu	37	chr9	89763701	89763701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgcatctcctcctggGggtgtgggggccgagtggga	17	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:89763701G>T	uc004apa.1	+	1	143	c.56G>T	c.(55-57)GGG>GTG	p.G19V		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	19											0						CTCCTCCTGGGGGTGTGGGGG	0.711													T	89763701	G	T	89763701	3	4	198	1	0	0	0	0	1	0	0	0	2469	1232	43	5	58	5	C9orf170	9	89763701	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	10989777	89763701	51449730	681	109770											
ROR2	4920	broad.mit.edu	37	chr9	94486805	94486805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcctctggggccatccaGcggataggcagcagcgagtt	15	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:94486805G>A	uc004arj.1	-	9	2170	c.1971C>T	c.(1969-1971)CGC>CGT	p.R657R	ROR2_uc004ari.1_Silent_p.R517R	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	657	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GGGCCATCCAGCGGATAGGCA	0.577													A	94486805	G	A	94486805	2	1	198	1	0	0	0	0	0	0	0	1	13527	958	34	2		2	ROR2	9	94486805	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4723104	94486805	46726626	682	109771											
IARS	3376	broad.mit.edu	37	chr9	94984874	94984874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccttggctgcttcatAcagaagaccttggtgggtga	11	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:94984874A>G	uc004art.1	-	33	3891	c.3634T>C	c.(3634-3636)TAT>CAT	p.Y1212H	IARS_uc004ars.1_Missense_Mutation_p.Y1005H|IARS_uc004aru.3_Missense_Mutation_p.Y1212H|IARS_uc010mqr.2_Missense_Mutation_p.Y1102H|IARS_uc010mqt.2_Missense_Mutation_p.Y435H	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	1212					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	GCTGCTTCATACAGAAGACCT	0.493													G	94984874	A	G	94984874	3	3	198	1	0	0	0	0	1	0	0	0	7473	391	14	3	162	3	IARS	9	94984874	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	498069	94984874	46228557	683	109772											
NOL8	55035	broad.mit.edu	37	chr9	95076606	95076606	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttcttttgctttttgcctCgcttccaaggctgccaaacg	7	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:95076606C>T	uc004arv.2	-	7	2638	c.2301G>A	c.(2299-2301)GCG>GCA	p.A767A	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Silent_p.A699A	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	767	Potential.				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						CTTTTTGCCTCGCTTCCAAGG	0.383													T	95076606	C	T	95076606	2	4	198	1	0	0	0	0	0	0	0	1	10527	871	31	1		1	NOL8	9	95076606	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	91732	95076606	46136825	684	109773											
BICD2	23299	broad.mit.edu	37	chr9	95480885	95480885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgcttggtgctgagcagcGacttcagcttgaggatctcc	12	13	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:95480885G>A	uc004aso.1	-	5	2099	c.2042C>T	c.(2041-2043)TCG>TTG	p.S681L	BICD2_uc004asp.1_Missense_Mutation_p.S681L	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	681	Interacts with RAB6A (By similarity).|Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GCTGAGCAGCGACTTCAGCTT	0.622													A	95480885	G	A	95480885	3	1	198	1	0	0	0	0	1	0	0	0	1429	1059	37	1	547	1	BICD2	9	95480885	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	404279	95480885	45732546	685	109774											
ZNF484	83744	broad.mit.edu	37	chr9	95610073	95610073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggataaaggctcttccataGtcactgcatttatagtaatt	7	7	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:95610073G>A	uc004asu.1	-	5	1145	c.996C>T	c.(994-996)GAC>GAT	p.D332D	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.D334D|ZNF484_uc010mrb.1_Silent_p.D296D|ZNF484_uc004asv.1_Silent_p.D296D	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	332	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCTTCCATAGTCACTGCATT	0.398													A	95610073	G	A	95610073	2	1	198	1	0	0	0	0	0	0	0	1	17934	1020	36	4		4	ZNF484	9	95610073	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	129188	95610073	45603358	686	109775											
FAM120A	23196	broad.mit.edu	37	chr9	96278468	96278468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcccagagcggcagcccCaaccacgtggattccgccta	11	18	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:96278468C>T	uc004atw.2	+	7	1360	c.1335C>T	c.(1333-1335)CCC>CCT	p.P445P	FAM120A_uc004atv.2_Silent_p.P445P|FAM120A_uc004atx.2_Silent_p.P227P|FAM120A_uc004aty.2_Silent_p.P226P|FAM120A_uc004atz.2_Silent_p.P94P|FAM120A_uc010mrf.1_RNA	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	445						cytoplasm|plasma membrane	RNA binding				0						GCGGCAGCCCCAACCACGTGG	0.612													T	96278468	C	T	96278468	2	4	198	1	0	0	0	0	0	0	0	1	5415	581	21	4		4	FAM120A	9	96278468	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	668395	96278468	44934963	687	109776											
PTPDC1	138639	broad.mit.edu	37	chr9	96859910	96859910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgctgctggacttagcGgagaacaggccagtgatgat	13	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:96859910G>A	uc004auf.1	+	7	1240	c.900G>A	c.(898-900)GCG>GCA	p.A300A	PTPDC1_uc004aug.1_Silent_p.A300A|PTPDC1_uc004auh.1_Silent_p.A352A|PTPDC1_uc010mrj.1_Silent_p.A354A|PTPDC1_uc010mri.1_Silent_p.A352A	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	300							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						TGGACTTAGCGGAGAACAGGC	0.468													A	96859910	G	A	96859910	2	1	198	1	0	0	0	0	0	0	0	1	12773	1103	39	1		1	PTPDC1	9	96859910	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	581442	96859910	44353521	688	109777											
FBP1	2203	broad.mit.edu	37	chr9	97380086	97380087	+	Frame_Shift_Ins	INS	-	-	A													aaatggttccaacggacacaINSaggcaatcgatgttggaaga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:97380085_97380086C>CA	uc004auw.4	-	2	721_722	c.390_391G>TG	c.(388-393)cttgtgfs	p.L130fs	FBP1_uc010mrl.3_Frame_Shift_Ins_p.L130fs	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	130					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCAACGGACACAAGGCAATCGA	0.386													A	97380087	-	A	97380086	7	5	198	1	0	1	1	0	0	0	0	0	5705	117	5	0	646	0	FBP1	9	97380086	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	520176	97380086	43833345	689	109778											
C9orf102	375748	broad.mit.edu	37	chr9	98678714	98678714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgcctaagaaggaagacCgggtaagaaccgcatttgta	12	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:98678714C>T	uc004avt.3	+	6	1577	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.R99W|C9orf102_uc010mry.1_Missense_Mutation_p.R99W|C9orf102_uc010mrz.2_Missense_Mutation_p.R208W	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	397					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				GAAGGAAGACCGGGTAAGAAC	0.393													T	98678714	C	T	98678714	3	4	198	1	0	0	0	0	1	0	0	0	2445	643	23	1	1211	1	C9orf102	9	98678714	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1298628	98678714	42534717	690	109779											
KIAA1529	57653	broad.mit.edu	37	chr9	100088885	100088885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaactgaggcagcaaaGtgacaaagaaacactggcgt	12	9	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:100088885G>T	uc011lut.1	+	27	2917	c.2144G>T	c.(2143-2145)AGT>ATT	p.S715I	KIAA1529_uc004axe.1_Missense_Mutation_p.S715I|KIAA1529_uc004axg.1_Missense_Mutation_p.S576I|KIAA1529_uc011lus.1_Missense_Mutation_p.S533I|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.S576I|KIAA1529_uc011luv.1_Missense_Mutation_p.S573I	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AGGCAGCAAAGTGACAAAGAA	0.517													T	100088885	G	T	100088885	3	4	198	1	0	0	0	0	1	0	0	0	8240	1029	36	5	2214	5	KIAA1529	9	100088885	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1410171	100088885	41124546	691	109780											
TMOD1	7111	broad.mit.edu	37	chr9	100331261	100331261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggagctgggattctgcGcctggtagaagccctcccat	12	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:100331261G>A	uc004axk.1	+	8	1025	c.812G>A	c.(811-813)CGC>CAC	p.R271H	TMOD1_uc004axl.1_Missense_Mutation_p.R271H	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	271					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGGATTCTGCGCCTGGTAGAA	0.488													A	100331261	G	A	100331261	3	1	198	1	0	0	0	0	1	0	0	0	16230	1087	38	1	838	1	TMOD1	9	100331261	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	242376	100331261	40882170	692	109781											
TRIM14	9830	broad.mit.edu	37	chr9	100849874	100849874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtcacgtcgtagaaggCgaggacgccggcctcgtagt	15	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:100849874C>T	uc004ayd.2	-	6	1225	c.1207G>A	c.(1207-1209)GCC>ACC	p.A403T	TRIM14_uc004ayf.1_Missense_Mutation_p.A310T|TRIM14_uc011luz.1_Missense_Mutation_p.A181T|TRIM14_uc011lva.1_Missense_Mutation_p.A184T|TRIM14_uc004ayg.1_Missense_Mutation_p.A403T|TRIM14_uc004ayh.1_Missense_Mutation_p.A403T|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.A310T	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	403	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCGTAGAAGGCGAGGACGCCG	0.711													T	100849874	C	T	100849874	3	4	198	1	0	0	0	0	1	0	0	0	16486	768	27	1	125	1	TRIM14	9	100849874	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	518613	100849874	40363557	693	109782											
GABBR2	9568	broad.mit.edu	37	chr9	101216327	101216327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcccagcgtgtggtccGtgtagttgaagtcctggatc	13	11	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:101216327G>A	uc004ays.2	-	7	1328	c.1172C>T	c.(1171-1173)ACG>ATG	p.T391M		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	391	Extracellular (Potential).				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			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGTGTGGTCCGTGTAGTTGAA	0.582													A	101216327	G	A	101216327	3	1	198	1	0	0	0	0	1	0	0	0	6156	1145	40	1	1705	1	GABBR2	9	101216327	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	366453	101216327	39997104	694	109783											
ANKS6	203286	broad.mit.edu	37	chr9	101552402	101552402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctgttttgggcctgacGgtggtcagcgggtccaggta	16	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:101552402G>A	uc004ayu.2	-	2	867	c.846C>T	c.(844-846)ACC>ACT	p.T282T	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	282	ANK 7.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TGGGCCTGACGGTGGTCAGCG	0.577													A	101552402	G	A	101552402	2	1	198	1	0	0	0	0	0	0	0	1	692	1103	39	1		1	ANKS6	9	101552402	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	336075	101552402	39661029	695	109784											
ACTL7B	10880	broad.mit.edu	37	chr9	111617761	111617761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgagcggagggtcGgagaccagcacagcgtgctc	18	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:111617761G>A	uc004bdi.2	-	1	515	c.450C>T	c.(448-450)TCC>TCT	p.S150S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	150						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCGGAGGGTCGGAGACCAGCA	0.627													A	111617761	G	A	111617761	2	1	198	1	0	0	0	0	0	0	0	1	201	1103	39	1		1	ACTL7B	9	111617761	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	10065359	111617761	29595670	696	109785											
PTPN3	5774	broad.mit.edu	37	chr9	112143955	112143955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcaccatcatggcgcGctggtctcgcatttttcgga	11	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:112143955G>A	uc004bed.2	-	25	2753	c.2641C>T	c.(2641-2643)CGC>TGC	p.R881C	PTPN3_uc004beb.2_Missense_Mutation_p.R750C|PTPN3_uc004bec.2_Missense_Mutation_p.R705C|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.R836C|PTPN3_uc011lwh.1_Missense_Mutation_p.R727C|PTPN3_uc011lwd.1_Missense_Mutation_p.R349C|PTPN3_uc011lwe.1_Missense_Mutation_p.R594C|PTPN3_uc011lwf.1_Missense_Mutation_p.R549C	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	881	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						ATCATGGCGCGCTGGTCTCGC	0.512													A	112143955	G	A	112143955	3	1	198	1	0	0	0	0	1	0	0	0	12789	1087	38	1	108	1	PTPN3	9	112143955	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	526194	112143955	29069476	697	109786											
LPAR1	1902	broad.mit.edu	37	chr9	113704261	113704261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataggaaaatggaagcggCggttgacatagattgccacc	12	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:113704261C>T	uc004bfa.2	-	4	488	c.233G>A	c.(232-234)CGC>CAC	p.R78H	LPAR1_uc011lwm.1_Missense_Mutation_p.R79H|LPAR1_uc004bfb.2_Missense_Mutation_p.R78H|LPAR1_uc004bfc.2_Missense_Mutation_p.R78H|LPAR1_uc011lwn.1_Missense_Mutation_p.R60H|LPAR1_uc011lwo.1_Missense_Mutation_p.R79H|LPAR1_uc010mub.2_Missense_Mutation_p.R78H	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	78	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						ATGGAAGCGGCGGTTGACATA	0.463													T	113704261	C	T	113704261	3	4	198	1	0	0	0	0	1	0	0	0	8904	768	27	1	869	1	LPAR1	9	113704261	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1560306	113704261	27509170	698	109787											
KIAA1958	158405	broad.mit.edu	37	chr9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcgccgaggcctggaccGcatcctgaagaatgcaggtg	13	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:115421658G>A	uc004bgf.1	+	4	1635	c.1460G>A	c.(1459-1461)CGC>CAC	p.R487H	KIAA1958_uc011lwx.1_Missense_Mutation_p.R515H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	487										skin(1)	1						GGCCTGGACCGCATCCTGAAG	0.557													A	115421658	G	A	115421658	3	1	198	1	0	0	0	0	1	0	0	0	8264	1087	38	1	1470	1	KIAA1958	9	115421658	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1717397	115421658	25791773	699	109788											
DBC1	1620	broad.mit.edu	37	chr9	121929368	121929368	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaggagtcccgggttagcaGagtttggctgtcatctggtc	14	9	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:121929368G>T	uc004bkc.2	-	8	2736	c.2280C>A	c.(2278-2280)CTC>CTA	p.L760L		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	760					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CGGGTTAGCAGAGTTTGGCTG	0.413													T	121929368	G	T	121929368	2	4	198	1	0	0	0	0	0	0	0	1	4247	929	33	5		5	DBC1	9	121929368	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	6507710	121929368	19284063	700	109789											
PHF19	26147	broad.mit.edu	37	chr9	123620372	123620372	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgacttgaggtgggacagGgatgagtcatcttcactgat	14	6	3	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:123620372G>T	uc004bks.1	-	15	1846	c.1593C>A	c.(1591-1593)TCC>TCA	p.S531S	PHF19_uc011lyf.1_Silent_p.S322S|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						GGTGGGACAGGGATGAGTCAT	0.587													T	123620372	G	T	123620372	2	4	198	1	0	0	0	0	0	0	0	1	11829	1219	43	5		5	PHF19	9	123620372	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1691004	123620372	17593059	701	109790											
GSN	2934	broad.mit.edu	37	chr9	124081159	124081159	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcacaggccagaaacagGtacgtttagggcgtggggtg	17	7	0	1	rs113048496		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:124081159G>A	uc004blf.1	+	9	1405	c.1344_splice	c.e9+1	p.Q448_splice	GSN_uc004bld.1_Splice_Site_p.Q397_splice|GSN_uc010mvq.1_Splice_Site_p.Q408_splice|GSN_uc010mvr.1_Splice_Site_p.Q408_splice|GSN_uc010mvu.1_Splice_Site_p.Q397_splice|GSN_uc010mvt.1_Splice_Site_p.Q397_splice|GSN_uc010mvs.1_Splice_Site_p.Q397_splice|GSN_uc004ble.1_Splice_Site_p.Q397_splice|GSN_uc010mvv.1_Splice_Site_p.Q397_splice|GSN_uc011lyh.1_Splice_Site_p.Q414_splice|GSN_uc011lyi.1_Splice_Site_p.Q397_splice|GSN_uc011lyj.1_Splice_Site_p.Q421_splice|GSN_uc004blg.1_Splice_Site_p.Q179_splice	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						CCAGAAACAGGTACGTTTAGG	0.632													A	124081159	G	A	124081159	5	1	198	1	0	0	0	0	0	0	1	0	6825	1275	44	4	1407	4	GSN	9	124081159	Splice_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08	460787	124081159	17132272	702	109791											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					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						AATCTGAGATTAAAAAAAACA	0.398													-	125861042	A	-	125861042	7	5	198	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	1779883	125861042	15352389	703	109792											
CRB2	286204	broad.mit.edu	37	chr9	126132397	126132397	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcccaaagggccgacatgTgaggaagatgtggatgaatg	14	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:126132397T>C	uc004bnx.1	+	7	1157	c.1065T>C	c.(1063-1065)TGT>TGC	p.C355C	CRB2_uc004bnw.1_Silent_p.C355C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	355	Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GGCCGACATGTGAGGAAGATG	0.552													C	126132397	T	C	126132397	2	2	198	1	0	0	0	0	0	0	0	1	3849	1702	59	3		3	CRB2	9	126132397	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	271355	126132397	15081034	704	109793											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870316	129870316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagatctggttgatgatgCggttgtaggtgggtggttgg	19	2	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:129870316C>T	uc004bqr.1	-	2	1195	c.695G>A	c.(694-696)CGC>CAC	p.R232H	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	232					multicellular organismal development|signal transduction	extracellular space	receptor binding				0						GTTGATGATGCGGTTGTAGGT	0.652													T	129870316	C	T	129870316	3	4	198	1	0	0	0	0	1	0	0	0	614	768	27	1	802	1	ANGPTL2	9	129870316	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3737919	129870316	11343115	705	109794											
STXBP1	6812	broad.mit.edu	37	chr9	130416038	130416038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggatgctgtcctcctgCtgcaagatgacagacatcat	10	10	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:130416038C>T	uc004brl.2	+	3	329	c.132C>T	c.(130-132)TGC>TGT	p.C44C	STXBP1_uc004brk.2_Silent_p.C44C	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	44					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			skin(1)	1						TGTCCTCCTGCTGCAAGATGA	0.448													T	130416038	C	T	130416038	2	4	198	1	0	0	0	0	0	0	0	1	15351	805	28	2		2	STXBP1	9	130416038	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	545722	130416038	10797393	706	109795											
C9orf119	375757	broad.mit.edu	37	chr9	131050962	131050962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcaccaccaaagagttGtatccagagtttgggctgga	13	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:131050962G>A	uc004bup.2	+	5	675	c.675G>A	c.(673-675)TTG>TTA	p.L225L		NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	225					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						CCAAAGAGTTGTATCCAGAGT	0.552													A	131050962	G	A	131050962	2	1	198	1	0	0	0	0	0	0	0	1	2452	1368	48	4		4	C9orf119	9	131050962	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	634924	131050962	10162469	707	109796											
ODF2	4957	broad.mit.edu	37	chr9	131254775	131254775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagctgaaggcctcagTgaagaactatgaggggatga	14	8	1	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:131254775T>C	uc011mbd.1	+	15	1918	c.1607T>C	c.(1606-1608)GTG>GCG	p.V536A	ODF2_uc011maz.1_Missense_Mutation_p.V536A|ODF2_uc011mbb.1_Missense_Mutation_p.V470A|ODF2_uc011mbc.1_Missense_Mutation_p.V455A|ODF2_uc004bva.2_Missense_Mutation_p.V489A|ODF2_uc004bvb.2_Missense_Mutation_p.V512A|ODF2_uc011mbe.1_Missense_Mutation_p.V531A|ODF2_uc004bvc.2_Missense_Mutation_p.V512A|ODF2_uc011mbf.1_Missense_Mutation_p.V517A|ODF2_uc004bvd.3_Missense_Mutation_p.V536A|ODF2_uc004bve.2_Missense_Mutation_p.V517A	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	536	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						AAGGCCTCAGTGAAGAACTAT	0.567													C	131254775	T	C	131254775	3	2	198	1	0	0	0	0	1	0	0	0	10827	1696	59	3	1716	3	ODF2	9	131254775	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	203813	131254775	9958656	708	109797											
METTL11A	28989	broad.mit.edu	37	chr9	132397660	132397660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaggatcatctgcagtGcaggcctcagcctcctggcc	11	16	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:132397660G>A	uc004byd.1	+	4	783	c.589G>A	c.(589-591)GCA>ACA	p.A197T	METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_3'UTR|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	197					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						CATCTGCAGTGCAGGCCTCAG	0.612													A	132397660	G	A	132397660	3	1	198	1	0	0	0	0	1	0	0	0	9495	1319	46	2	599	2	METTL11A	9	132397660	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1142885	132397660	8815771	709	109798											
DDX31	64794	broad.mit.edu	37	chr9	135470282	135470282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagtcttgctgtcccGctgtacacctttttgggttt	11	10	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:135470282G>A	uc004cbq.1	-	20	2679	c.2527C>T	c.(2527-2529)CGG>TGG	p.R843W	DDX31_uc010mzu.1_Missense_Mutation_p.R770W	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	843						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTGCTGTCCCGCTGTACACCT	0.537													A	135470282	G	A	135470282	3	1	198	1	0	0	0	0	1	0	0	0	4356	1086	38	1	32	1	DDX31	9	135470282	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3072622	135470282	5743149	710	109799											
SURF4	6836	broad.mit.edu	37	chr9	136234223	136234223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgtagtcgcgctgctcGctccactggaaccacatacg	10	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:136234223G>A	uc004cdj.2	-	2	277	c.147C>T	c.(145-147)AGC>AGT	p.S49S	SURF4_uc011mda.1_Silent_p.S40S|SURF4_uc010nal.2_Silent_p.S81S|SURF4_uc011mdb.1_Silent_p.S6S|SURF4_uc011mdc.1_Silent_p.S6S|SURF4_uc011mdd.1_Silent_p.S49S	NM_033161	NP_149351	O15260	SURF4_HUMAN	surfeit 4	49						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597													A	136234223	G	A	136234223	2	1	198	1	0	0	0	0	0	0	0	1	15402	1078	38	1		1	SURF4	9	136234223	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	763941	136234223	4979208	711	109800											
FCN1	2219	broad.mit.edu	37	chr9	137806229	137806229	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcccacgggtggctcAcctttctctccacgcatccc	9	19	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:137806229A>G	uc004cfi.2	-	4	399	c.307_splice	c.e4+1	p.G103_splice		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor						opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGGGTGGCTCACCTTTCTCTC	0.622													G	137806229	A	G	137806229	5	3	198	1	0	0	0	0	0	0	1	0	5791	173	6	3	695	3	FCN1	9	137806229	Splice_Site	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1572006	137806229	3407202	712	109801											
FCN1	2219	broad.mit.edu	37	chr9	137809680	137809680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaagactagcaggacaGcgagcccccgggccatggtg	15	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:137809680G>T	uc004cfi.2	-	1	130	c.38C>A	c.(37-39)GCT>GAT	p.A13D		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	13					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TAGCAGGACAGCGAGCCCCCG	0.582													T	137809680	G	T	137809680	3	4	198	1	0	0	0	0	1	0	0	0	5791	971	34	5	978	5	FCN1	9	137809680	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3451	137809680	3403751	713	109802											
OLFM1	10439	broad.mit.edu	37	chr9	137990338	137990338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaaggctccgtgcatgCatgcaaaaactaggtaggcc	12	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:137990338C>T	uc010nar.2	+	4	979	c.663C>T	c.(661-663)TGC>TGT	p.C221C	OLFM1_uc004cfl.3_Silent_p.C203C	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	221	Potential.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCCGTGCATGCATGCAAAAAC	0.557													T	137990338	C	T	137990338	2	4	198	1	0	0	0	0	0	0	0	1	10852	718	25	2		2	OLFM1	9	137990338	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	180658	137990338	3223093	714	109803											
GPSM1	26086	broad.mit.edu	37	chr9	139229058	139229058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacagccagctgggcaacGcctacttctacctgaaggag	10	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:139229058G>A	uc004chd.2	+	2	443	c.223G>A	c.(223-225)GCC>ACC	p.A75T	GPSM1_uc004chc.2_Missense_Mutation_p.A75T	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	75	TPR 2.|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCTGGGCAACGCCTACTTCTA	0.632													A	139229058	G	A	139229058	3	1	198	1	0	0	0	0	1	0	0	0	6734	1087	38	1	229	1	GPSM1	9	139229058	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1238720	139229058	1984373	715	109804											
MAMDC4	158056	broad.mit.edu	37	chr9	139748339	139748339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggcagtgaccacaggcCgcatccggggtgacttccga	14	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:139748339C>T	uc004cjs.2	+	5	615	c.565C>T	c.(565-567)CGC>TGC	p.R189C	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	189	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		GACCACAGGCCGCATCCGGGG	0.662													T	139748339	C	T	139748339	3	4	198	1	0	0	0	0	1	0	0	0	9204	652	23	1	583	1	MAMDC4	9	139748339	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	519281	139748339	1465092	716	109805											
ABCA2	20	broad.mit.edu	37	chr9	139911565	139911565	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagaccaaaggccgtcgtGgacatgagggactgagaagg	15	10	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:139911565G>T	uc011mem.1	-	18	2710	c.2562C>A	c.(2560-2562)TCC>TCA	p.S854S	ABCA2_uc011mel.1_Silent_p.S855S|ABCA2_uc004ckl.1_Silent_p.S785S|ABCA2_uc004ckm.1_Silent_p.S885S|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	854					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				0	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)		AGGCCGTCGTGGACATGAGGG	0.672													T	139911565	G	T	139911565	2	4	198	1	0	0	0	0	0	0	0	1	32	1335	47	5		5	ABCA2	9	139911565	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	163226	139911565	1301866	717	109806											
GRIN1	2902	broad.mit.edu	37	chr9	140058231	140058231	+	Frame_Shift_Del	DEL	G	G	-													gggtcttcatgctggtagctGggggcatcgtggccgggatc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140058230_140058230TG>T	uc004clk.3	+	17	2793	c.2463_2463TG>T	c.(2461-2463)gctfs	p.A821fs	GRIN1_uc004cli.1_Frame_Shift_Del_p.A496fs|GRIN1_uc004clj.1_Frame_Shift_Del_p.A818fs|GRIN1_uc004cln.3_Frame_Shift_Del_p.A842fs|GRIN1_uc004clo.3_Frame_Shift_Del_p.A842fs|GRIN1_uc004clm.3_Frame_Shift_Del_p.A821fs|GRIN1_uc004cll.3_Frame_Shift_Del_p.A821fs	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	821					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	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	TGCTGGTAGCTGGGGGCATCG	0.627													-	140058231	G	-	140058231	7	5	198	1	0	1	0	1	0	0	0	0	6778	1348	47	0	2601	0	GRIN1	9	140058231	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	146666	140058231	1155200	718	109807											
C9orf173	441476	broad.mit.edu	37	chr9	140146299	140146300	+	Frame_Shift_Ins	INS	-	-	C													cctcaggttacagacgggcaINSccccccaggagtccctgccc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140146299_140146300insC	uc004cmk.1	+	2	229_230	c.217_218insC	c.(217-219)ACCfs	p.T73fs	C9orf173_uc004cmj.1_Frame_Shift_Ins_p.T74fs|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Frame_Shift_Ins_p.T73fs|C9orf173_uc004cml.1_Frame_Shift_Ins_p.T73fs			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	74										pancreas(1)	1						ACAGACGGGCACCCCCCAGGAG	0.634													C	140146300	-	C	140146299	7	5	198	1	0	1	1	0	0	0	0	0	2472	159	6	0	226	0	C9orf173	9	140146299	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	88068	140146299	1067132	719	109808											
NOXA1	10811	broad.mit.edu	37	chr9	140328791	140328791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggccgcctgccccgatcCcagcagggagatcagcccta	11	19	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140328791C>A	uc004cmv.2	+	14	1545	c.1410C>A	c.(1408-1410)TCC>TCA	p.S470S	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Silent_p.S477S|NOXA1_uc010nch.2_Silent_p.S421S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	470			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		TGCCCCGATCCCAGCAGGGAG	0.632													A	140328791	C	A	140328791	2	1	198	1	0	0	0	0	0	0	0	1	10560	610	22	5		5	NOXA1	9	140328791	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	182492	140328791	884640	720	109809											
ENTPD8	377841	broad.mit.edu	37	chr9	140330594	140330594	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttgcctgtcccttcAactgtgaggttctgggggag	15	10	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140330594A>G	uc004cmw.2	-	7	1105	c.921T>C	c.(919-921)GTT>GTC	p.V307V	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.V307V	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	307	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGTCCCTTCAACTGTGAGGT	0.642													G	140330594	A	G	140330594	2	3	198	1	0	0	0	0	0	0	0	1	5145	117	5	3		3	ENTPD8	9	140330594	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1803	140330594	882837	721	109810											
EHMT1	79813	broad.mit.edu	37	chr9	140729301	140729301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctcccccaagtgccggCactcgagcgcggccctggcc	14	19	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140729301C>T	uc011mfc.1	+	27	3830	c.3793C>T	c.(3793-3795)CAC>TAC	p.H1265Y	EHMT1_uc004coe.2_Missense_Mutation_p.H170Y	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1265					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)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAAGTGCCGGCACTCGAGCGC	0.697													T	140729301	C	T	140729301	3	4	198	1	0	0	0	0	1	0	0	0	4983	710	25	2	3948	2	EHMT1	9	140729301	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	398707	140729301	484130	722	109811											
ZMYND11	10771	broad.mit.edu	37	chr10	294978	294978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagaagaaatcaagaagCtggcaacacagcacaagcaa	9	8	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:294978C>T	uc010pzt.1	+	14	2064	c.1636C>T	c.(1636-1638)CTG>TTG	p.L546L	ZMYND11_uc001ifk.2_Silent_p.L545L|ZMYND11_uc010pzu.1_Silent_p.L546L|ZMYND11_uc010pzv.1_Silent_p.L491L|ZMYND11_uc010pzw.1_Silent_p.L461L|ZMYND11_uc001ifm.2_Silent_p.L492L|ZMYND11_uc010pzx.1_Silent_p.L546L|ZMYND11_uc001ifn.2_Silent_p.L492L|ZMYND11_uc009xhg.2_Silent_p.L529L|ZMYND11_uc009xhh.2_Silent_p.L420L|ZMYND11_uc010pzy.1_Silent_p.L398L	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	506	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATCAAGAAGCTGGCAACACA	0.388													T	294978	C	T	294978	2	4	198	1	0	0	0	0	0	0	0	1	17703	796	28	2		2	ZMYND11	10	294978	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08		294978	135239769	723	109812											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	198	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	595961	890939	134643808	724	109813											
AKR1C1	1645	broad.mit.edu	37	chr10	5008192	5008192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcatttatacaataaTgaggagcaggttggactggc	11	7	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:5008192T>C	uc001iho.2	+	7	1012	c.171T>C	c.(169-171)AAT>AAC	p.N57N	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Silent_p.N57N|AKR1C1_uc009xhx.2_Silent_p.N57N|AKR1C1_uc001ihq.2_Silent_p.N57N	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	57					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	TATACAATAATGAGGAGCAGG	0.448													C	5008192	T	C	5008192	2	2	198	1	0	0	0	0	0	0	0	1	469	1461	51	3		3	AKR1C1	10	5008192	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4117253	5008192	130526555	725	109814											
ITIH5	80760	broad.mit.edu	37	chr10	7618675	7618675	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtagctccagagacgctcGatgtggttggtgtccccctc	13	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:7618675G>A	uc001ijq.2	-	10	1798	c.1719C>T	c.(1717-1719)ATC>ATT	p.I573I	ITIH5_uc001ijp.2_Silent_p.I359I|ITIH5_uc001ijr.1_Silent_p.I573I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	573					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						AGAGACGCTCGATGTGGTTGG	0.622													A	7618675	G	A	7618675	2	1	198	1	0	0	0	0	0	0	0	1	7907	1048	37	1		1	ITIH5	10	7618675	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2610483	7618675	127916072	726	109815											
HSPA14	51182	broad.mit.edu	37	chr10	14890639	14890639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagctcagaaatacatcGcggaaagtaaatgtttagtg	9	7	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:14890639G>A	uc001inf.2	+	4	394	c.253G>A	c.(253-255)GCG>ACG	p.A85T	HSPA14_uc010qbw.1_Missense_Mutation_p.A85T	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	85			A -> V (in a breast cancer sample; somatic mutation).		'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	p.A85V(2)		ovary(2)|breast(2)|lung(1)	5						GAAATACATCGCGGAAAGTAA	0.333													A	14890639	G	A	14890639	3	1	198	1	0	0	0	0	1	0	0	0	7407	1087	38	1	267	1	HSPA14	10	14890639	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7271964	14890639	120644108	727	109816											
CACNB2	783	broad.mit.edu	37	chr10	18828395	18828395	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccaaaggaagattattcCcatgaccacgtggaccacta	9	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:18828395C>A	uc001ipr.2	+	14	1785	c.1725C>A	c.(1723-1725)TCC>TCA	p.S575S	CACNB2_uc009xjz.1_Silent_p.S325S|CACNB2_uc001ips.2_Silent_p.S551S|CACNB2_uc001ipt.2_Silent_p.S537S|CACNB2_uc001ipu.2_Silent_p.S547S|CACNB2_uc001ipv.2_Silent_p.S523S|CACNB2_uc009xka.1_Silent_p.S509S|CACNB2_uc001ipw.2_Silent_p.S482S|CACNB2_uc001ipx.2_Silent_p.S520S|CACNB2_uc001ipz.2_Silent_p.S497S|CACNB2_uc001ipy.2_Silent_p.S521S|CACNB2_uc010qco.1_Silent_p.S489S|CACNB2_uc001iqa.2_Silent_p.S527S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	575					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGATTATTCCCATGACCACG	0.577													A	18828395	C	A	18828395	2	1	198	1	0	0	0	0	0	0	0	1	2553	610	22	5		5	CACNB2	10	18828395	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3937756	18828395	116706352	728	109817											
THNSL1	79896	broad.mit.edu	37	chr10	25313576	25313576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taactccataaactggggccGactacttccgcaggtagttt	9	11	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:25313576G>A	uc001isi.3	+	3	1753	c.1424G>A	c.(1423-1425)CGA>CAA	p.R475Q	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	475					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AACTGGGGCCGACTACTTCCG	0.383													A	25313576	G	A	25313576	3	1	198	1	0	0	0	0	1	0	0	0	15859	1058	37	1	1426	1	THNSL1	10	25313576	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	6485181	25313576	110221171	729	109818											
KIAA1462	57608	broad.mit.edu	37	chr10	30315526	30315526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagggacagggtctgtgCtggtgacaaccccgtccaca	13	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:30315526C>T	uc001iux.2	-	2	3610	c.3551G>A	c.(3550-3552)AGC>AAC	p.S1184N	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.S1046N|KIAA1462_uc009xle.1_Missense_Mutation_p.S1184N	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1184										ovary(4)	4						AGGGTCTGTGCTGGTGACAAC	0.567													T	30315526	C	T	30315526	3	4	198	1	0	0	0	0	1	0	0	0	8234	797	28	2	536	2	KIAA1462	10	30315526	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5001950	30315526	105219221	730	109819											
C10orf68	79741	broad.mit.edu	37	chr10	33137556	33137556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaacaaagatatgtccGtacaacgtcaagaaggtatc	7	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:33137556G>A	uc001iwn.3	+	19	2007	c.1534G>A	c.(1534-1536)GTA>ATA	p.V512I	C10orf68_uc001iwl.1_Missense_Mutation_p.V471I|C10orf68_uc001iwm.1_Missense_Mutation_p.V516I|C10orf68_uc010qei.1_Missense_Mutation_p.V488I|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	512										skin(2)|ovary(1)	3						AGATATGTCCGTACAACGTCA	0.303													A	33137556	G	A	33137556	3	1	198	1	0	0	0	0	1	0	0	0	1613	1145	40	1	1600	1	C10orf68	10	33137556	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2822030	33137556	102397191	731	109820											
ZNF37A	7587	broad.mit.edu	37	chr10	38385550	38385550	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaccagtggaagatgaTcacatcccaggtaagttgtt	9	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:38385550T>A	uc001izk.2	+	5	824	c.5T>A	c.(4-6)ATC>AAC	p.I2N	ZNF37A_uc001izl.2_Missense_Mutation_p.I2N|ZNF37A_uc001izm.2_Missense_Mutation_p.I2N	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						TGGAAGATGATCACATCCCAG	0.353													A	38385550	T	A	38385550	3	1	198	1	0	0	0	0	1	0	0	0	17869	1435	50	5	7	5	ZNF37A	10	38385550	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	5247994	38385550	97149197	732	109821											
ZNF33B	7582	broad.mit.edu	37	chr10	43088863	43088863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattatctgatgcctggtgAgtactgacttgtggtagaaa	12	5	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:43088863A>G	uc001jaf.1	-	5	1650	c.1535T>C	c.(1534-1536)CTC>CCC	p.L512P	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.L400P|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	512	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATGCCTGGTGAGTACTGACTT	0.388													G	43088863	A	G	43088863	3	3	198	1	0	0	0	0	1	0	0	0	17852	304	11	3	805	3	ZNF33B	10	43088863	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4703313	43088863	92445884	733	109822											
BMS1	9790	broad.mit.edu	37	chr10	43293987	43293987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtttcgtgtcaaccagCctgacagagagtgtaagcac	12	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:43293987C>T	uc001jaj.2	+	12	2519	c.2161C>T	c.(2161-2163)CCT>TCT	p.P721S		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	721					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGTCAACCAGCCTGACAGAGA	0.473													T	43293987	C	T	43293987	3	4	198	1	0	0	0	0	1	0	0	0	1472	739	26	2	2203	2	BMS1	10	43293987	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	205124	43293987	92240760	734	109823											
RET	5979	broad.mit.edu	37	chr10	43622073	43622073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgactccctgatttatgaCgacggcctctcagaggagga	11	11	2	4	rs142859395	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:43622073C>T	uc001jal.2	+	19	3280	c.3090C>T	c.(3088-3090)GAC>GAT	p.D1030D	RET_uc001jak.1_Silent_p.D1030D|RET_uc010qez.1_Silent_p.D776D	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1030	Cytoplasmic (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGATTTATGACGACGGCCTCT	0.542		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43622073	C	T	43622073	2	4	198	1	0	0	0	0	0	0	0	1	13235	535	19	1		1	RET	10	43622073	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	328086	43622073	91912674	735	109824											
C10orf71	118461	broad.mit.edu	37	chr10	50530853	50530853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggagccagttaccgtcacAgggcacggaacattcgggct	13	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:50530853A>G	uc010qgp.1	+	3	602	c.263A>G	c.(262-264)CAG>CGG	p.Q88R		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	88											0						TTACCGTCACAGGGCACGGAA	0.577													G	50530853	A	G	50530853	3	3	198	1	0	0	0	0	1	0	0	0	1614	188	7	3	265	3	C10orf71	10	50530853	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	6908780	50530853	85003894	736	109825											
PCDH15	65217	broad.mit.edu	37	chr10	55582002	55582002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagctgaaggaggtggAgggcaaggaatagaaggagg	19	2	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:55582002A>G	uc001jju.1	-	33	5879	c.5484T>C	c.(5482-5484)CCT>CCC	p.P1828P	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1825P|PCDH15_uc010qhw.1_Silent_p.P1788P|PCDH15_uc010qhx.1_Silent_p.P1759P|PCDH15_uc010qhy.1_Silent_p.P1835P|PCDH15_uc010qhz.1_Silent_p.P1830P|PCDH15_uc010qia.1_Silent_p.P1808P|PCDH15_uc010qib.1_Silent_p.P1805P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1828	Poly-Pro.|Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				aaggaggtggagggcaaggaa	0.279										HNSCC(58;0.16)			G	55582002	A	G	55582002	2	3	198	1	0	0	0	0	0	0	0	1	11511	291	11	3		3	PCDH15	10	55582002	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	5051149	55582002	79952745	737	109826											
PCDH15	65217	broad.mit.edu	37	chr10	55582989	55582989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgctcttaagtgatccGtctacatgagctgacttgtg	10	8	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:55582989G>A	uc001jju.1	-	33	4892	c.4497C>T	c.(4495-4497)GAC>GAT	p.D1499D	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.D1496D|PCDH15_uc010qhw.1_Silent_p.D1459D|PCDH15_uc010qhx.1_Silent_p.D1430D|PCDH15_uc010qhy.1_Silent_p.D1506D|PCDH15_uc010qhz.1_Silent_p.D1501D|PCDH15_uc010qia.1_Silent_p.D1479D|PCDH15_uc010qib.1_Silent_p.D1476D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1499	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TAAGTGATCCGTCTACATGAG	0.403										HNSCC(58;0.16)			A	55582989	G	A	55582989	2	1	198	1	0	0	0	0	0	0	0	1	11511	1136	40	1		1	PCDH15	10	55582989	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	987	55582989	79951758	738	109827											
JMJD1C	221037	broad.mit.edu	37	chr10	64958470	64958470	+	Frame_Shift_Del	DEL	T	T	-													catctattctaactactccgTttttactaaatgacaacctg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:64958469_64958469GT>G	uc001jmn.3	-	11	5595	c.5295_5295AC>C	c.(5293-5295)aacfs	p.N1765fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.N1546fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.N1477fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.N1583fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.N1583fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1765					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	p.P1765L(1)		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)					TAACTACTCCGTTTTTACTAA	0.284													-	64958470	T	-	64958470	7	5	198	1	0	1	0	1	0	0	0	0	7950	1725	60	0	2388	0	JMJD1C	10	64958470	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	9375481	64958470	70576277	739	109828											
MYPN	84665	broad.mit.edu	37	chr10	69959203	69959203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgcctcccacaagatgCtggtcagggagaccggagtc	13	12	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:69959203C>A	uc001jnm.3	+	18	3549	c.3364C>A	c.(3364-3366)CTG>ATG	p.L1122M	MYPN_uc001jnn.3_Missense_Mutation_p.L847M|MYPN_uc001jno.3_Missense_Mutation_p.L1122M|MYPN_uc009xpt.2_Missense_Mutation_p.L1122M|MYPN_uc010qit.1_Missense_Mutation_p.L828M|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	1122	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						CCACAAGATGCTGGTCAGGGA	0.552													A	69959203	C	A	69959203	3	1	198	1	0	0	0	0	1	0	0	0	10098	796	28	5	3426	5	MYPN	10	69959203	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5000733	69959203	65575544	740	109829											
DNA2	1763	broad.mit.edu	37	chr10	70191618	70191618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagaataataaccttaCgagagtacatatcgtagttg	9	6	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:70191618C>T	uc001jof.2	-	13	2242	c.2242G>A	c.(2242-2244)GTA>ATA	p.V748I	DNA2_uc001jog.1_Splice_Site_p.L661_splice|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	662					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						AATAACCTTACGAGAGTACAT	0.378													T	70191618	C	T	70191618	3	4	198	1	0	0	0	0	1	0	0	0	4596	536	19	1	1234	1	DNA2	10	70191618	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	232415	70191618	65343129	741	109830											
CCAR1	55749	broad.mit.edu	37	chr10	70513670	70513671	+	Frame_Shift_Ins	INS	-	-	T													tttgtatatacctagtgactINStttttgatgctcaatttaca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:70513669_70513670C>CT	uc001joo.3	+	10	1298_1299	c.1179_1180C>CT	c.(1177-1182)gactttfs	p.D393fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Ins_p.D198fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.D367fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.D339fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.D378fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.D378fs|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	393					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						TACCTAGTGACTTTTTTGATGC	0.361													T	70513671	-	T	70513670	7	5	198	1	0	1	1	0	0	0	0	0	2730	1609	56	0	1218	0	CCAR1	10	70513670	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	322052	70513670	65021077	742	109831											
STOX1	219736	broad.mit.edu	37	chr10	70644505	70644505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttttagtctcttatggcGcagcttatctagaaaggaga	11	6	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:70644505G>A	uc001jos.2	+	3	1040	c.953G>A	c.(952-954)CGC>CAC	p.R318H	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.R208H	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	318						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CTCTTATGGCGCAGCTTATCT	0.458													A	70644505	G	A	70644505	3	1	198	1	0	0	0	0	1	0	0	0	15318	1087	38	1	963	1	STOX1	10	70644505	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	130835	70644505	64890242	743	109832											
KIAA1274	27143	broad.mit.edu	37	chr10	72299395	72299395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggcaaggagggcccCctgacctacaggttccagac	11	17	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:72299395C>T	uc001jrd.3	+	15	2066	c.1785C>T	c.(1783-1785)CCC>CCT	p.P595P	KIAA1274_uc001jre.3_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	595										ovary(2)|central_nervous_system(1)	3						AGGAGGGCCCCCTGACCTACA	0.672													T	72299395	C	T	72299395	2	4	198	1	0	0	0	0	0	0	0	1	8220	610	22	4		4	KIAA1274	10	72299395	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1654890	72299395	63235352	744	109833											
CAMK2G	818	broad.mit.edu	37	chr10	75574930	75574930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggatgtaggcgatgcacGctgcgtcctccccaatcacg	13	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:75574930G>A	uc001jvm.1	-	20	1633	c.1514C>T	c.(1513-1515)GCG>GTG	p.A505V	CAMK2G_uc001jvo.1_Missense_Mutation_p.A476V|CAMK2G_uc001jvq.1_Missense_Mutation_p.A453V|CAMK2G_uc001jvr.1_Missense_Mutation_p.A444V|CAMK2G_uc001jvp.1_Missense_Mutation_p.A467V|CAMK2G_uc001jvs.1_Missense_Mutation_p.A488V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.A445V|CAMK2G_uc009xrp.1_Missense_Mutation_p.A94V	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	507					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					GGCGATGCACGCTGCGTCCTC	0.622													A	75574930	G	A	75574930	3	1	198	1	0	0	0	0	1	0	0	0	2602	1087	38	1	160	1	CAMK2G	10	75574930	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3275535	75574930	59959817	745	109834											
VCL	7414	broad.mit.edu	37	chr10	75864868	75864868	+	Frame_Shift_Del	DEL	A	A	-													atgcttcagaagaagcaattAaaaaagacctggacaagtgc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:75864867_75864867TA>T	uc001jwd.3	+	15	2284	c.2190_2190TA>T	c.(2188-2190)attfs	p.I730fs	VCL_uc009xrr.3_Frame_Shift_Del_p.I479fs|VCL_uc010qky.1_Frame_Shift_Del_p.I637fs|VCL_uc001jwe.3_Frame_Shift_Del_p.I730fs|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	730	N-terminal globular head.				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)					AAGAAGCAATTAAAAAAGACC	0.463													-	75864868	A	-	75864868	7	5	198	1	0	1	0	1	0	0	0	0	17136	363	13	0	2253	0	VCL	10	75864868	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	289938	75864868	59669879	746	109835											
KCNMA1	3778	broad.mit.edu	37	chr10	78651453	78651453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagggtccgtatcagggTgaggatattgtcattgaagt	13	7	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:78651453T>C	uc001jxn.2	-	26	3349	c.3172A>G	c.(3172-3174)ACC>GCC	p.T1058A	KCNMA1_uc001jxj.2_Missense_Mutation_p.T1004A|KCNMA1_uc001jxk.1_Missense_Mutation_p.T676A|KCNMA1_uc009xrt.1_Missense_Mutation_p.T849A|KCNMA1_uc001jxl.1_Missense_Mutation_p.T683A|KCNMA1_uc001jxo.2_Missense_Mutation_p.T1041A|KCNMA1_uc001jxm.2_Missense_Mutation_p.T1000A|KCNMA1_uc001jxq.2_Missense_Mutation_p.T1030A|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1058	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	CGTATCAGGGTGAGGATATTG	0.532													C	78651453	T	C	78651453	3	2	198	1	0	0	0	0	1	0	0	0	8073	1696	59	3	579	3	KCNMA1	10	78651453	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2786585	78651453	56883294	747	109836											
MAT1A	4143	broad.mit.edu	37	chr10	82039973	82039973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggaggaggccggagcGcctgaggtctgccatccggg	19	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:82039973G>A	uc001kbw.2	-	5	760	c.505C>T	c.(505-507)CGC>TGC	p.R169C		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	169					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGCCGGAGCGCCTGAGGTCT	0.582													A	82039973	G	A	82039973	3	1	198	1	0	0	0	0	1	0	0	0	9329	1087	38	1	702	1	MAT1A	10	82039973	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3388520	82039973	53494774	748	109837											
LRIT1	26103	broad.mit.edu	37	chr10	86001144	86001145	+	Frame_Shift_Ins	INS	-	-	G													gggcagaagccccgggcctgINSggggggccacgcaagggcca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:86001143_86001144T>TG	uc001kcz.1	-	0	74_75	c.52_53A>CA	c.(52-54)cagfs	p.Q18fs		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	18						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCCGGGCCTGGGGGGGCCAC	0.673													G	86001145	-	G	86001144	7	5	198	1	0	1	1	0	0	0	0	0	8947	1357	47	0	1835	0	LRIT1	10	86001144	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	3961171	86001144	49533603	749	109838											
BMPR1A	657	broad.mit.edu	37	chr10	88651974	88651975	+	Frame_Shift_Ins	INS	-	-	T													tgaaatatgaaggatctgatINStttcagtgcaaagtaagata							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:88651973_88651974A>AT	uc001kdy.3	+	4	868_869	c.320_321A>AT	c.(319-321)gatfs	p.D107fs		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	107					BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|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						GAAGGATCTGATTTTCAGTGCA	0.416			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				T	88651975	-	T	88651974	7	5	198	1	0	1	1	0	0	0	0	0	1469	1490	52	0	331	0	BMPR1A	10	88651974	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	2650830	88651974	46882773	750	109839											
IFIT1	3434	broad.mit.edu	37	chr10	91162510	91162510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaaaaattatgaacggGccaaggcctgctttgaaaag	12	6	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:91162510G>A	uc001kgi.2	+	2	626	c.478G>A	c.(478-480)GCC>ACC	p.A160T	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|IFIT1_uc009xtt.2_Missense_Mutation_p.A160T|IFIT1_uc001kgj.2_Missense_Mutation_p.A129T	NM_001548	NP_001539	P09914	IFIT1_HUMAN	interferon-induced protein with	160	TPR 3.				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding				0						TTATGAACGGGCCAAGGCCTG	0.483													A	91162510	G	A	91162510	3	1	198	1	0	0	0	0	1	0	0	0	7521	1203	42	2	484	2	IFIT1	10	91162510	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2510536	91162510	44372237	751	109840											
BTAF1	9044	broad.mit.edu	37	chr10	93756173	93756173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccttcaataccccagTactgcagtgaggcacatggc	10	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:93756173T>C	uc001khr.2	+	24	3455	c.3357T>C	c.(3355-3357)AGT>AGC	p.S1119S	BTAF1_uc001kht.1_Silent_p.S557S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1119	HEAT 7.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AATACCCCAGTACTGCAGTGA	0.383													C	93756173	T	C	93756173	2	2	198	1	0	0	0	0	0	0	0	1	1536	1635	57	3		3	BTAF1	10	93756173	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2593663	93756173	41778574	752	109841											
KIF11	3832	broad.mit.edu	37	chr10	94381191	94381191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagatcttgctgcagcccGtgagaaaaatggagtgtata	12	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:94381191G>A	uc001kic.2	+	10	1486	c.1178G>A	c.(1177-1179)CGT>CAT	p.R393H	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	393	Potential.				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			skin(1)	1						GCTGCAGCCCGTGAGAAAAAT	0.373													A	94381191	G	A	94381191	3	1	198	1	0	0	0	0	1	0	0	0	8272	1145	40	1	1216	1	KIF11	10	94381191	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	625018	94381191	41153556	753	109842											
CYP2C19	1557	broad.mit.edu	37	chr10	96609690	96609690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggcacaaccatattaaCttccctcacttctgtgctac	5	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:96609690C>T	uc010qnz.1	+	8	1166	c.1166C>T	c.(1165-1167)ACT>ATT	p.T389I	CYP2C19_uc010qny.1_Missense_Mutation_p.T367I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	389					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			ovary(4)|central_nervous_system(1)|skin(1)	6		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)	ACCATATTAACTTCCCTCACT	0.393													T	96609690	C	T	96609690	3	4	198	1	0	0	0	0	1	0	0	0	4166	565	20	4	1196	4	CYP2C19	10	96609690	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2228499	96609690	38925057	754	109843											
CYP2C19	1557	broad.mit.edu	37	chr10	96609804	96609804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtaactacttcatgcCtttctcagcaggtaatataa	6	8	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:96609804C>G	uc010qnz.1	+	8	1280	c.1280C>G	c.(1279-1281)CCT>CGT	p.P427R	CYP2C19_uc010qny.1_Missense_Mutation_p.P405R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	427					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			ovary(4)|central_nervous_system(1)|skin(1)	6		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)	TACTTCATGCCTTTCTCAGCA	0.383													G	96609804	C	G	96609804	3	3	198	1	0	0	0	0	1	0	0	0	4166	681	24	5	1310	5	CYP2C19	10	96609804	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	114	96609804	38924943	755	109844											
SORBS1	10580	broad.mit.edu	37	chr10	97096319	97096319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctttcctccccgcctgctCgccacctctatgccgctctg	7	20	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:97096319C>T	uc001kkp.2	-	28	3643	c.3598G>A	c.(3598-3600)GAG>AAG	p.E1200K	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.E1059K|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.E1154K|SORBS1_uc010qoe.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1200					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			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCCGCCTGCTCGCCACCTCTA	0.647													T	97096319	C	T	97096319	3	4	198	1	0	0	0	0	1	0	0	0	14927	893	31	1	360	1	SORBS1	10	97096319	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	486515	97096319	38438428	756	109845											
PI4K2A	55361	broad.mit.edu	37	chr10	99422723	99422723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatggatagttctagctctCgggtaagagactgagataaa	11	6	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:99422723C>T	uc001kog.1	+	5	1039	c.982C>T	c.(982-984)CGG>TGG	p.R328W	PI4K2A_uc010qoy.1_Missense_Mutation_p.R298W|PI4K2A_uc009xvw.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	328	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTCTAGCTCTCGGGTAAGAGA	0.363													T	99422723	C	T	99422723	3	4	198	1	0	0	0	0	1	0	0	0	11871	875	31	1	1000	1	PI4K2A	10	99422723	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2326404	99422723	36112024	757	109846											
CRTAC1	55118	broad.mit.edu	37	chr10	99625339	99625339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagctctccttaaccaccGaccccagattgagatctcca	6	17	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:99625339G>A	uc001kou.1	-	15	2308	c.1952C>T	c.(1951-1953)TCG>TTG	p.S651L	GOLGA7B_uc001kos.2_Intron|CRTAC1_uc001kot.1_3'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	651						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTTAACCACCGACCCCAGATT	0.458													A	99625339	G	A	99625339	3	1	198	1	0	0	0	0	1	0	0	0	3896	1059	37	1	37	1	CRTAC1	10	99625339	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	202616	99625339	35909408	758	109847											
PYROXD2	84795	broad.mit.edu	37	chr10	100155183	100155183	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaggacctcataatatcGgggaagctgggctcccagga	14	9	1	1	rs146494121		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:100155183G>A	uc001kpc.2	-	7	738	c.652C>T	c.(652-654)CGA>TGA	p.R218*	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Nonsense_Mutation_p.R218*|MIR1287_hsa-mir-1287|MI0006349_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	218							oxidoreductase activity			central_nervous_system(1)	1						TCATAATATCGGGGAAGCTGG	0.587													A	100155183	G	A	100155183	4	1	198	1	0	0	0	0	0	1	0	0	12867	1124	39	1	1133	1	PYROXD2	10	100155183	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	529844	100155183	35379564	759	109848											
HPSE2	60495	broad.mit.edu	37	chr10	100219428	100219428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggccggcccgaagggggCggggcttcaattctgggagg	19	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:100219428C>T	uc001kpn.1	-	12	1742	c.1682G>A	c.(1681-1683)CGC>CAC	p.R561H	HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Missense_Mutation_p.R493H|HPSE2_uc009xwd.1_Missense_Mutation_p.R439H	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	561					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGAAGGGGGCGGGGCTTCAA	0.552													T	100219428	C	T	100219428	3	4	198	1	0	0	0	0	1	0	0	0	7345	768	27	1	100	1	HPSE2	10	100219428	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	64245	100219428	35315319	760	109849											
SEC31B	25956	broad.mit.edu	37	chr10	102247505	102247505	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaaagcttcctgcatcCacacatcgggcaacctcatg	7	15	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:102247505C>A	uc001krc.1	-	26	3510	c.3408G>T	c.(3406-3408)GTG>GTT	p.V1136V	SEC31B_uc010qpo.1_Silent_p.V1135V|SEC31B_uc001krd.1_Silent_p.V673V|SEC31B_uc001krf.1_Silent_p.V569V|SEC31B_uc001kre.1_Silent_p.V567V	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	1136					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TTCCTGCATCCACACATCGGG	0.597													A	102247505	C	A	102247505	2	1	198	1	0	0	0	0	0	0	0	1	13999	581	21	5		5	SEC31B	10	102247505	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2028077	102247505	33287242	761	109850											
LZTS2	84445	broad.mit.edu	37	chr10	102763814	102763814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccccgcctccacctccttCggatgaggccctgctgcact	8	20	0	1	rs71488080		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:102763814C>T	uc001ksj.2	+	3	1028	c.959C>T	c.(958-960)TCG>TTG	p.S320L	LZTS2_uc010qpw.1_Missense_Mutation_p.S320L|LZTS2_uc001ksk.2_Missense_Mutation_p.S320L|LZTS2_uc001ksl.2_Missense_Mutation_p.S320L|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	320	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCACCTCCTTCGGATGAGGCC	0.662													T	102763814	C	T	102763814	3	4	198	1	0	0	0	0	1	0	0	0	9139	893	31	1	965	1	LZTS2	10	102763814	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	516309	102763814	32770933	762	109851											
PPRC1	23082	broad.mit.edu	37	chr10	103900371	103900371	+	Frame_Shift_Del	DEL	G	G	-													ggtgcagtgtcatcagccctGgggggttcagcaccccagct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:103900370_103900370TG>T	uc001kum.3	+	4	2144	c.2105_2105TG>T	c.(2104-2106)ctgfs	p.L702fs	PPRC1_uc001kun.3_Frame_Shift_Del_p.L582fs|PPRC1_uc010qqj.2_Frame_Shift_Del_p.L702fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide 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)		TCATCAGCCCTGGGGGGTTCA	0.532													-	103900371	G	-	103900371	7	5	198	1	0	1	0	1	0	0	0	0	12410	1335	47	0	2124	0	PPRC1	10	103900371	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1136557	103900371	31634376	763	109852											
PPRC1	23082	broad.mit.edu	37	chr10	103901077	103901078	+	Frame_Shift_Ins	INS	-	-	C													ttctggctatccttgcctgcINScccccccaccaacggtgccc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:103901076_103901077G>GC	uc001kum.3	+	4	2850_2851	c.2811_2812G>GC	c.(2809-2814)ctgcccfs	p.L937fs	PPRC1_uc001kun.3_Frame_Shift_Ins_p.L817fs|PPRC1_uc010qqj.2_Frame_Shift_Ins_p.L937fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	937	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide 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)		ATCCTTGCCTGCCCCCCCCACC	0.604													C	103901078	-	C	103901077	7	5	198	1	0	1	1	0	0	0	0	0	12410	739	26	0	2830	0	PPRC1	10	103901077	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	706	103901077	31633670	764	109853											
SORCS1	114815	broad.mit.edu	37	chr10	108389108	108389108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagacaccgcgataccatcGccaaagtccacttggatgag	9	12	0	2	rs144932995		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:108389108G>A	uc001kym.2	-	19	2522	c.2514C>T	c.(2512-2514)GGC>GGT	p.G838G	SORCS1_uc001kyl.2_Silent_p.G838G|SORCS1_uc009xxs.2_Silent_p.G838G|SORCS1_uc001kyn.1_Silent_p.G838G|SORCS1_uc001kyo.2_Silent_p.G838G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	838	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGATACCATCGCCAAAGTCCA	0.512													A	108389108	G	A	108389108	2	1	198	1	0	0	0	0	0	0	0	1	14930	1074	38	1		1	SORCS1	10	108389108	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4488031	108389108	27145639	765	109854											
NRAP	4892	broad.mit.edu	37	chr10	115348747	115348747	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatggctcacaacagcaggGccttcttctttttgacgtgc	9	12	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:115348747G>C	uc001laj.2	-	42	5344	c.5180C>G	c.(5179-5181)GCC>GGC	p.A1727G	HABP2_uc001lai.3_3'UTR|NRAP_uc009xyb.2_Missense_Mutation_p.A480G|NRAP_uc001lak.2_Missense_Mutation_p.A1692G|NRAP_uc001lal.3_Missense_Mutation_p.A1728G	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1727						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAACAGCAGGGCCTTCTTCTT	0.542													C	115348747	G	C	115348747	3	2	198	1	0	0	0	0	1	0	0	0	10638	1203	42	5	16	5	NRAP	10	115348747	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	6959639	115348747	20186000	766	109855											
FAM160B1	57700	broad.mit.edu	37	chr10	116603550	116603550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgatgctgttagtaagTttgccagagcctgcggctgc	14	9	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:116603550T>C	uc001lcb.2	+	7	1202	c.867T>C	c.(865-867)AGT>AGC	p.S289S	FAM160B1_uc001lcc.2_Silent_p.S289S	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	289										lung(1)	1						TGTTAGTAAGTTTGCCAGAGC	0.458													C	116603550	T	C	116603550	2	2	198	1	0	0	0	0	0	0	0	1	5470	1722	60	3		3	FAM160B1	10	116603550	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1254803	116603550	18931197	767	109856											
EIF3A	8661	broad.mit.edu	37	chr10	120797783	120797784	+	Frame_Shift_Del	DEL	TC	TC	-													agcgatcctctcgatccacaTctctctctctgtccctttct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:120797782_120797783ATC>A	uc001ldu.3	-	19	3841_3842	c.3695_3696GAT>T	c.(3694-3696)gatfs	p.D1232fs	EIF3A_uc010qsu.2_Frame_Shift_Del_p.D1198fs|EIF3A_uc009xzg.1_Frame_Shift_Del_p.D271fs	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1232	Asp-rich.				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)		CTCGATCCACAtctctctctct	0.48													-	120797784	TC	-	120797783	7	5	198	1	0	1	0	1	0	0	0	0	5012	1435	50	0	465	0	EIF3A	10	120797783	Frame_Shift_Del	DEL	TC	TCGA-CG-5733-01A-11D-1600-08	4194233	120797783	14736964	768	109857											
TACC2	10579	broad.mit.edu	37	chr10	123974941	123974943	+	In_Frame_Del	DEL	CTC	CTC	-													gaaaaagtcgccaaaacggtCtcctctctctgatccacctt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:123974940_123974942TCTC>T	uc001lfv.3	+	9	7678_7680	c.7318_7320TCTC>T	c.(7318-7320)tct>T	p.S2440del	TACC2_uc001lfw.3_In_Frame_Del_p.S586del|TACC2_uc009xzx.3_In_Frame_Del_p.S2395del|TACC2_uc010qtv.2_In_Frame_Del_p.S2444del|TACC2_uc001lfx.3_In_Frame_Del_p.S144del|TACC2_uc001lfy.3_In_Frame_Del_p.S140del|TACC2_uc001lfz.3_In_Frame_Del_p.S518del|TACC2_uc001lga.3_In_Frame_Del_p.S518del|TACC2_uc009xzy.3_In_Frame_Del_p.S530del|TACC2_uc001lgb.3_In_Frame_Del_p.S475del|TACC2_uc010qtw.1_In_Frame_Del_p.S535del	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2440						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)				GCCAAAACGGTCTCCTCTCTCTG	0.478													-	123974943	CTC	-	123974941	7	5	198	1	0	1	0	1	0	0	0	0	15499	913	32	0	7425	0	TACC2	10	123974941	In_Frame_Del	DEL	CTC	TCGA-CG-5733-01A-11D-1600-08	3177158	123974941	11559806	769	109858											
HTRA1	5654	broad.mit.edu	37	chr10	124266334	124266334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcgtgagcaccacccagcGaggcggcaaagagctggggc	16	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:124266334G>A	uc001lgj.2	+	4	1033	c.905G>A	c.(904-906)CGA>CAA	p.R302Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	302	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACCACCCAGCGAGGCGGCAAA	0.622													A	124266334	G	A	124266334	3	1	198	1	0	0	0	0	1	0	0	0	7453	1058	37	1	919	1	HTRA1	10	124266334	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	291393	124266334	11268413	770	109859											
C10orf120	399814	broad.mit.edu	37	chr10	124457494	124457495	+	Frame_Shift_Ins	INS	-	-	T													tttccatggtatgttaaacaINStttttttggttcttttgact							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:124457494_124457495insT	uc001lgn.2	-	3	794_795	c.762_763insA	c.(760-765)AAATGTfs	p.K254fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	254_255										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				TATGTTAAACATTTTTTTGGTT	0.386													T	124457495	-	T	124457494	7	5	198	1	0	1	1	0	0	0	0	0	1590	217	8	0	248	0	C10orf120	10	124457494	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	191160	124457494	11077253	771	109860	520	2									
C10orf120	399814	broad.mit.edu	37	chr10	124457495	124457496	+	Frame_Shift_Ins	INS	-	-	T													ttccatggtatgttaaacatINSttttttggttcttttgactt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:124457494_124457495A>AT	uc001lgn.3	-	2	794_795	c.762_763T>AT	c.(760-765)aaatgtfs	p.K254fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	254										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TATGTTAAACATTTTTTTGGTT	0.386													T	124457496	-	T	124457495	7	5	198	1	0	1	1	0	0	0	0	0	1590	1490	52	0	249	0	C10orf120	10	124457495	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1	124457495	11077252	772	109861	520	2									
CTBP2	1488	broad.mit.edu	37	chr10	126691672	126691672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccacggcttcgtttagaAcctgcgtgggaacagagcac	12	13	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:126691672A>G	uc009yak.2	-	5	502	c.215T>C	c.(214-216)GTT>GCT	p.V72A	CTBP2_uc009yal.2_Missense_Mutation_p.V72A|CTBP2_uc001lif.3_Missense_Mutation_p.V72A|CTBP2_uc001lih.3_Missense_Mutation_p.V72A|CTBP2_uc001lid.3_Missense_Mutation_p.V140A|CTBP2_uc001lie.3_Missense_Mutation_p.V612A	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	72					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				0		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)		TTCGTTTAGAACCTGCGTGGG	0.637													G	126691672	A	G	126691672	3	3	198	1	0	0	0	0	1	0	0	0	3998	57	2	3	1150	3	CTBP2	10	126691672	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2234177	126691672	8843075	773	109862											
MKI67	4288	broad.mit.edu	37	chr10	129902204	129902205	+	Frame_Shift_Ins	INS	-	-	TG													tcaccgcttgctggttctttINSgtgtgtgtgtgtgctttgcc					rs143354291	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:129902203_129902204T>TTG	uc001lke.3	-	12	8095_8096	c.7900_7901A>CAA	c.(7900-7902)aaafs	p.K2634fs	MKI67_uc001lkf.3_Frame_Shift_Ins_p.K2274fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.K2209fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.K1784fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2634	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.H2633D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTGGTTCTTTGTGTGTGTGT	0.495													TG	129902205	-	TG	129902204	7	5	198	1	0	1	1	0	0	0	0	0	9598	1821	63	0	1882	0	MKI67	10	129902204	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	3210532	129902204	5632543	774	109863											
MKI67	4288	broad.mit.edu	37	chr10	129903109	129903109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagttttctcatcagtcGtgggcttgtcagtgcctggt	13	8	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:129903109G>A	uc001lke.2	-	13	7190	c.6995C>T	c.(6994-6996)ACG>ATG	p.T2332M	MKI67_uc001lkf.2_Missense_Mutation_p.T1972M|MKI67_uc009yav.1_Missense_Mutation_p.T1907M|MKI67_uc009yaw.1_Missense_Mutation_p.T1482M	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2332	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				CTCATCAGTCGTGGGCTTGTC	0.522													A	129903109	G	A	129903109	3	1	198	1	0	0	0	0	1	0	0	0	9598	1145	40	1	2787	1	MKI67	10	129903109	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	905	129903109	5631638	775	109864											
MGMT	4255	broad.mit.edu	37	chr10	131334634	131334634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcaaggggacgtctGcagctgagtaagtatgagcc	15	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:131334634G>A	uc001lkh.2	+	2	237	c.211G>A	c.(211-213)GCA>ACA	p.A71T		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	40										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGGGACGTCTGCAGCTGAGTA	0.527								Direct_reversal_of_damage					A	131334634	G	A	131334634	3	1	198	1	0	0	0	0	1	0	0	0	9557	1319	46	2	217	2	MGMT	10	131334634	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1431525	131334634	4200113	776	109865											
INPP5A	3632	broad.mit.edu	37	chr10	134595384	134595384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccgtgttcctggccttccGaatcatgcccggggcaggta	13	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:134595384G>A	uc001llp.2	+	15	1426	c.1178G>A	c.(1177-1179)CGA>CAA	p.R393Q	INPP5A_uc001llq.2_Missense_Mutation_p.R288Q	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	393					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			skin(1)	1		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)		CTGGCCTTCCGAATCATGCCC	0.612													A	134595384	G	A	134595384	3	1	198	1	0	0	0	0	1	0	0	0	7754	1058	37	1	1236	1	INPP5A	10	134595384	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3260750	134595384	939363	777	109866											
CDHR5	53841	broad.mit.edu	37	chr11	618900	618901	+	Frame_Shift_Ins	INS	-	-	G													aggtgctggttcccacaccgINSgggggcatcggctgagaggt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:618899_618900C>CG	uc001lql.3	-	12	1926_1927	c.1659_1660G>CG	c.(1657-1662)cccggtfs	p.P553fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Ins_p.P553fs|CDHR5_uc009ycd.3_Frame_Shift_Ins_p.P547fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Ins_p.P387fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	553	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						GTTCCCACACCGGGGGGCATCG	0.668													G	618901	-	G	618900	7	5	198	1	0	1	1	0	0	0	0	0	3122	1103	39	0	890	0	CDHR5	11	618900	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08		618900	134387616	778	109867											
LRDD	55367	broad.mit.edu	37	chr11	800567	800567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccacgtcgatgccgcgctCgaaggccgcaaagaactctt	10	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:800567C>T	uc001lro.1	-	12	2159	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.E673K|LRDD_uc001lrl.1_Missense_Mutation_p.E516K|LRDD_uc001lrm.1_Missense_Mutation_p.E360K|LRDD_uc001lrn.1_Missense_Mutation_p.E516K|LRDD_uc001lrp.1_Missense_Mutation_p.E335K	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	673					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		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)		ATGCCGCGCTCGAAGGCCGCA	0.682													T	800567	C	T	800567	3	4	198	1	0	0	0	0	1	0	0	0	8936	893	31	1	735	1	LRDD	11	800567	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	181667	800567	134205949	779	109868											
MUC2	4583	broad.mit.edu	37	chr11	1093743	1093743	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacatccaatcctccgccTgagtcctcaacccctcagac	4	20	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:1093743T>C	uc001lsx.1	+	33	12675	c.12648T>C	c.(12646-12648)CCT>CCC	p.P4216P		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4216						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	ATCCTCCGCCTGAGTCCTCAA	0.607													C	1093743	T	C	1093743	2	2	198	1	0	0	0	0	0	0	0	1	9975	1567	55	3		3	MUC2	11	1093743	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	293176	1093743	133912773	780	109869											
MUC5B	727897	broad.mit.edu	37	chr11	1266053	1266053	+	Frame_Shift_Del	DEL	C	C	-													aaccagaggttccacggtgaCcccctcctccatcccgggga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:1266052_1266052AC>A	uc001lta.3	+	30	8001	c.7942_7942AC>A	c.(7942-7944)accfs	p.T2648fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2648	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)		TTCCACGGTGACCCCCTCCTC	0.642													-	1266053	C	-	1266053	7	5	198	1	0	1	0	1	0	0	0	0	9979	507	18	0	8074	0	MUC5B	11	1266053	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	172310	1266053	133740463	781	109870											
MUC5B	727897	broad.mit.edu	37	chr11	1267481	1267481	+	Frame_Shift_Del	DEL	C	C	-													ggccaccagttccatgtccaCcccctcctccactccgggga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:1267480_1267480AC>A	uc001lta.3	+	30	9429	c.9370_9370AC>A	c.(9370-9372)accfs	p.T3124fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3124	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)		TTCCATGTCCACCCCCTCCTC	0.647													-	1267481	C	-	1267481	7	5	198	1	0	1	0	1	0	0	0	0	9979	507	18	0	9502	0	MUC5B	11	1267481	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	1428	1267481	133739035	782	109871											
PHLDA2	7262	broad.mit.edu	37	chr11	2950458	2950458	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcgcagctccttggggCgcgcgcgggggctggcgggg	23	11	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:2950458C>G	uc001lxa.1	-	1	193	c.137G>C	c.(136-138)CGC>CCC	p.R46P		NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain family A member	46	PH.				apoptosis	cytoplasm|membrane					0		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)		CTCCTTGGGGCGCGCGCGGGG	0.647													G	2950458	C	G	2950458	3	3	198	1	0	0	0	0	1	0	0	0	11849	768	27	5	325	5	PHLDA2	11	2950458	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1682977	2950458	132056058	783	109872											
RHOG	391	broad.mit.edu	37	chr11	3849105	3849105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcacgttctcataggaCggcggactggcaatggagaa	14	10	1	1	rs143155056	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:3849105C>T	uc001lyu.2	-	2	422	c.264G>A	c.(262-264)CCG>CCA	p.P88P		NM_001665	NP_001656	P84095	RHOG_HUMAN	ras homolog gene family, member G precursor	88					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCTCATAGGACGGCGGACTGG	0.597													T	3849105	C	T	3849105	2	4	198	1	0	0	0	0	0	0	0	1	13339	523	19	1		1	RHOG	11	3849105	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	898647	3849105	131157411	784	109873											
OR52K1	390036	broad.mit.edu	37	chr11	4510990	4510990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctatctccttttcccacCcatggtcaatcctatcatat	2	14	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:4510990C>A	uc001lza.1	+	1	860	c.860C>A	c.(859-861)CCC>CAC	p.P287H		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		CTTTTCCCACCCATGGTCAAT	0.458													A	4510990	C	A	4510990	3	1	198	1	0	0	0	0	1	0	0	0	11123	623	22	5	862	5	OR52K1	11	4510990	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	661885	4510990	130495526	785	109874											
OR52I1	390037	broad.mit.edu	37	chr11	4615836	4615836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcacatagctttggccAggttagcatgtgctgacccc	11	11	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:4615836A>G	uc010qyi.1	+	1	568	c.568A>G	c.(568-570)AGG>GGG	p.R190G		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		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)		AGCTTTGGCCAGGTTAGCATG	0.493													G	4615836	A	G	4615836	3	3	198	1	0	0	0	0	1	0	0	0	11120	179	7	3	570	3	OR52I1	11	4615836	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	104846	4615836	130390680	786	109875											
OR51E1	143503	broad.mit.edu	37	chr11	4674217	4674217	+	Frame_Shift_Del	DEL	G	G	-													tggtgtggctgctgtggtgcGgggggctgcactgatggcac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:4674216_4674216CG>C	uc021qcq.1	+	0	460	c.460_460CG>C	c.(460-462)cggfs	p.R154fs	OR51E1_uc001lzi.4_Frame_Shift_Del_p.R154fs	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557													-	4674217	G	-	4674217	7	5	198	1	0	1	0	1	0	0	0	0	11094	1116	39	0	463	0	OR51E1	11	4674217	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	58381	4674217	130332299	787	109876											
OR52E2	119678	broad.mit.edu	37	chr11	5079943	5079943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttcctgcaataatattttCttcacacatttatagatctg	4	8	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:5079943C>A	uc010qyw.1	-	1	915	c.915G>T	c.(913-915)AAG>AAT	p.K305N		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		ATAATATTTTCTTCACACATT	0.363													A	5079943	C	A	5079943	3	1	198	1	0	0	0	0	1	0	0	0	11115	912	32	5	65	5	OR52E2	11	5079943	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	405726	5079943	129926573	788	109877											
C11orf42	160298	broad.mit.edu	37	chr11	6231598	6231598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgttgccttctcctgCctcaagttttcactgcagtc	6	14	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:6231598C>T	uc001mcj.2	+	2	639	c.591C>T	c.(589-591)TGC>TGT	p.C197C		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	197										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTCCTGCCTCAAGTTTT	0.582													T	6231598	C	T	6231598	2	4	198	1	0	0	0	0	0	0	0	1	1641	747	26	2		2	C11orf42	11	6231598	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1151655	6231598	128774918	789	109878											
TRIM3	10612	broad.mit.edu	37	chr11	6478040	6478040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagattgagcaccgatcgccGcagaccgtccacctcaagga	10	15	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:6478040G>A	uc001mdh.2	-	7	1303	c.916C>T	c.(916-918)CGG>TGG	p.R306W	TRIM3_uc001mdi.2_Missense_Mutation_p.R306W|TRIM3_uc010raj.1_Missense_Mutation_p.R187W|TRIM3_uc009yfd.2_Missense_Mutation_p.R306W|TRIM3_uc010rak.1_Missense_Mutation_p.R306W|TRIM3_uc001mdj.2_Missense_Mutation_p.R187W	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	306					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		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)		ACCGATCGCCGCAGACCGTCC	0.667													A	6478040	G	A	6478040	3	1	198	1	0	0	0	0	1	0	0	0	16501	1086	38	1	1346	1	TRIM3	11	6478040	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	246442	6478040	128528476	790	109879											
TPP1	1200	broad.mit.edu	37	chr11	6638584	6638584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtagggatgtggggaCcttacaacatgggtttccgt	15	7	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:6638584C>T	uc001mel.1	-	5	517	c.456G>A	c.(454-456)AGG>AGA	p.R152R	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Silent_p.R152R	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	152					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				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GATGTGGGGACCTTACAACAT	0.577													T	6638584	C	T	6638584	2	4	198	1	0	0	0	0	0	0	0	1	16408	506	18	4		4	TPP1	11	6638584	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	160544	6638584	128367932	791	109880											
PDE3B	5140	broad.mit.edu	37	chr11	14880754	14880754	+	Frame_Shift_Del	DEL	A	A	-													caatccttgctacggatcttAaaaagcattttgattttctc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:14880753_14880753TA>T	uc001mln.3	+	12	3038	c.2685_2685TA>T	c.(2683-2685)cttfs	p.L895fs	PDE3B_uc010rcr.2_Frame_Shift_Del_p.L844fs	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	895	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTACGGATCTTAAAAAGCATT	0.338													-	14880754	A	-	14880754	7	5	198	1	0	1	0	1	0	0	0	0	11638	363	13	0	2736	0	PDE3B	11	14880754	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	8242170	14880754	120125762	792	109881											
PIK3C2A	5286	broad.mit.edu	37	chr11	17113183	17113183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctatttggcctggagTaggactgaaggaacctgcat	11	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:17113183T>C	uc001mmq.3	-	30	4729	c.4663A>G	c.(4663-4665)ACT>GCT	p.T1555A	PIK3C2A_uc009ygu.1_Missense_Mutation_p.T158A|PIK3C2A_uc010rcw.1_Missense_Mutation_p.T1175A|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1555					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			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TGGCCTGGAGTAGGACTGAAG	0.358													C	17113183	T	C	17113183	3	2	198	1	0	0	0	0	1	0	0	0	11909	1638	57	3	409	3	PIK3C2A	11	17113183	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2232429	17113183	117893333	793	109882											
NUCB2	4925	broad.mit.edu	37	chr11	17333455	17333455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcctggatgaacaagaatTagaagccctatttactaaag	7	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:17333455T>C	uc001mmw.2	+	9	1042	c.797T>C	c.(796-798)TTA>TCA	p.L266S	NUCB2_uc001mmv.1_Missense_Mutation_p.L266S|NUCB2_uc009ygz.2_Missense_Mutation_p.L266S	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	266	Binds to necdin (By similarity).|EF-hand 1.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0						GAACAAGAATTAGAAGCCCTA	0.274													C	17333455	T	C	17333455	3	2	198	1	0	0	0	0	1	0	0	0	10719	1764	61	3	823	3	NUCB2	11	17333455	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	220272	17333455	117673061	794	109883											
NUCB2	4925	broad.mit.edu	37	chr11	17351800	17351800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaagaagagctacaaCgtcagcatgatcaactggag	9	8	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:17351800C>T	uc001mmw.2	+	12	1374	c.1129C>T	c.(1129-1131)CGT>TGT	p.R377C	NUCB2_uc009ygz.2_Missense_Mutation_p.R347C|NUCB2_uc009yha.2_RNA|NUCB2_uc001mmx.3_RNA|uc001mmy.1_5'Flank	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	377	Binds to necdin (By similarity).					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0						AGAGCTACAACGTCAGCATGA	0.338													T	17351800	C	T	17351800	3	4	198	1	0	0	0	0	1	0	0	0	10719	536	19	1	1167	1	NUCB2	11	17351800	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	18345	17351800	117654716	795	109884											
NAV2	89797	broad.mit.edu	37	chr11	20112451	20112451	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagctgagaccgtcatgCagctccgaaatgagttaaga	12	8	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:20112451C>T	uc001mpr.3	+	27	5909	c.5548C>T	c.(5548-5550)CAG>TAG	p.Q1850*	NAV2_uc001mpp.2_Nonsense_Mutation_p.Q1783*|NAV2_uc009yhx.2_Nonsense_Mutation_p.Q911*|NAV2_uc009yhz.2_Nonsense_Mutation_p.Q492*|NAV2_uc001mpu.2_Nonsense_Mutation_p.Q285*	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1906	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GACCGTCATGCAGCTCCGAAA	0.493													T	20112451	C	T	20112451	4	4	198	1	0	0	0	0	0	1	0	0	10184	711	25	2	5763	2	NAV2	11	20112451	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2760651	20112451	114894065	796	109885											
SLC17A6	57084	broad.mit.edu	37	chr11	22387120	22387120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaatggtctggtacatgtTttggcttttggtgtcttatg	13	4	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:22387120T>G	uc001mqk.2	+	7	1189	c.776T>G	c.(775-777)TTT>TGT	p.F259C		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	259	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TGGTACATGTTTTGGCTTTTG	0.398													G	22387120	T	G	22387120	3	3	198	1	0	0	0	0	1	0	0	0	14421	1841	64	5	802	5	SLC17A6	11	22387120	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2274669	22387120	112619396	797	109886											
BDNF	627	broad.mit.edu	37	chr11	27679623	27679623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttcaaggactgtgacCgtcccgcccgacatgtccac	8	16	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:27679623C>T	uc010rdu.1	-	2	1340	c.489G>A	c.(487-489)ACG>ACA	p.T163T	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Silent_p.T163T|BDNF_uc001mrt.2_Silent_p.T178T|BDNF_uc010rdw.1_Silent_p.T163T|BDNF_uc009yjd.2_Silent_p.T163T|BDNF_uc001mru.2_Silent_p.T163T|BDNF_uc010rdx.1_Silent_p.T163T|BDNF_uc010rdy.1_Silent_p.T163T|BDNF_uc009yjg.2_Silent_p.T163T|BDNF_uc009yje.2_Silent_p.T245T|BDNF_uc009yjf.2_Silent_p.T192T|BDNF_uc001mrv.2_Silent_p.T163T|BDNF_uc001mrw.3_Silent_p.T163T|BDNF_uc001mrx.2_Silent_p.T163T|BDNF_uc001mry.3_Silent_p.T163T|BDNF_uc001mrz.3_Silent_p.T163T|BDNF_uc001msa.2_Silent_p.T171T	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	163						extracellular region	growth factor activity				0						GGACTGTGACCGTCCCGCCCG	0.532													T	27679623	C	T	27679623	2	4	198	1	0	0	0	0	0	0	0	1	1394	639	23	1		1	BDNF	11	27679623	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5292503	27679623	107326893	798	109887											
IMMP1L	196294	broad.mit.edu	37	chr11	31477872	31477872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctccttccaaaccaaTtactcttttacaaatatttg	2	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:31477872T>C	uc001msy.1	-	5	452	c.256A>G	c.(256-258)ATT>GTT	p.I86V	IMMP1L_uc001msz.1_Missense_Mutation_p.I86V|IMMP1L_uc009yjo.2_Missense_Mutation_p.I86V|IMMP1L_uc009yjp.2_RNA	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	86					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					TCCAAACCAATTACTCTTTTA	0.328													C	31477872	T	C	31477872	3	2	198	1	0	0	0	0	1	0	0	0	7716	1493	52	3	256	3	IMMP1L	11	31477872	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	3798249	31477872	103528644	799	109888											
PAX6	5080	broad.mit.edu	37	chr11	31822302	31822302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcgggtgccccagcttcCggtctgcccgttcaacatcc	12	16	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:31822302C>T	uc001mtd.3	-	6	1350	c.460G>A	c.(460-462)GGA>AGA	p.G154R	PAX6_uc001mte.3_Missense_Mutation_p.G154R|PAX6_uc001mtg.3_Missense_Mutation_p.G168R|PAX6_uc001mtf.3_Missense_Mutation_p.G154R|PAX6_uc001mth.3_Missense_Mutation_p.G154R|PAX6_uc009yjr.2_Missense_Mutation_p.G154R	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	154	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CCCCAGCTTCCGGTCTGCCCG	0.547									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	31822302	C	T	31822302	3	4	198	1	0	0	0	0	1	0	0	0	11483	661	23	1	836	1	PAX6	11	31822302	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	344430	31822302	103184214	800	109889											
ELF5	2001	broad.mit.edu	37	chr11	34511570	34511570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttacagtctttgatggtgGccttgctttcttcagcgtca	9	10	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:34511570G>A	uc001mvo.1	-	4	652	c.422C>T	c.(421-423)GCC>GTC	p.A141V	ELF5_uc001mvp.1_Missense_Mutation_p.A131V|ELF5_uc009ykd.1_Intron	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	141					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTTGATGGTGGCCTTGCTTTC	0.458													A	34511570	G	A	34511570	3	1	198	1	0	0	0	0	1	0	0	0	5057	1203	42	2	391	2	ELF5	11	34511570	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2689268	34511570	100494946	801	109890											
COMMD9	29099	broad.mit.edu	37	chr11	36298658	36298658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatttgcctgggcttcGgttctccaagtagacctgtt	10	11	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:36298658G>A	uc001mwn.3	-	4	370	c.333C>T	c.(331-333)ACC>ACT	p.T111T	COMMD9_uc009ykj.2_Silent_p.T69T|COMMD9_uc010rfb.1_Silent_p.T111T	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	COMM domain containing 9 isoform 1	111										ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				CCTGGGCTTCGGTTCTCCAAG	0.483													A	36298658	G	A	36298658	2	1	198	1	0	0	0	0	0	0	0	1	3723	1103	39	1		1	COMMD9	11	36298658	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1787088	36298658	98707858	802	109891											
TRAF6	7189	broad.mit.edu	37	chr11	36512014	36512014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccattttagcagtcagctCccggatttgatggtcttgtc	9	10	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:36512014C>T	uc001mwr.1	-	8	1283	c.943G>A	c.(943-945)GAG>AAG	p.E315K	TRAF6_uc001mws.1_Missense_Mutation_p.E315K	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	315	Potential.|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			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				GCAGTCAGCTCCCGGATTTGA	0.458													T	36512014	C	T	36512014	3	4	198	1	0	0	0	0	1	0	0	0	16442	864	30	4	629	4	TRAF6	11	36512014	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	213356	36512014	98494502	803	109892											
ACCSL	390110	broad.mit.edu	37	chr11	44072905	44072905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgggaagaagtggcccGgttcctgacctactactgca	12	13	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:44072905G>A	uc001mxw.1	+	4	712	c.656G>A	c.(655-657)CGG>CAG	p.R219Q	ACCSL_uc009ykr.2_Missense_Mutation_p.R38Q	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	219							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						GAAGTGGCCCGGTTCCTGACC	0.527													A	44072905	G	A	44072905	3	1	198	1	0	0	0	0	1	0	0	0	134	1116	39	1	670	1	ACCSL	11	44072905	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7560891	44072905	90933611	804	109893											
PHF21A	51317	broad.mit.edu	37	chr11	45992812	45992812	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcggtcaccatagcaAtggtaggtctctggcccacc	12	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:45992812A>T	uc001ncc.3	-	7	1091	c.467T>A	c.(466-468)ATT>AAT	p.I156N	PHF21A_uc001ncb.3_Missense_Mutation_p.I156N|PHF21A_uc009ykx.2_Missense_Mutation_p.I156N|PHF21A_uc001nce.2_Missense_Mutation_p.I156N|PHF21A_uc001nca.1_Translation_Start_Site	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	156					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(1)|skin(1)	2						CACCATAGCAATGGTAGGTCT	0.522													T	45992812	A	T	45992812	3	4	198	1	0	0	0	0	1	0	0	0	11833	101	4	5	1653	5	PHF21A	11	45992812	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1919907	45992812	89013704	805	109894											
AGBL2	79841	broad.mit.edu	37	chr11	47689154	47689154	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaactttaacttctgcAtcaaattttttttctgatac	3	8	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:47689154A>C	uc001ngg.2	-	15	2409	c.2309T>G	c.(2308-2310)ATG>AGG	p.M770R	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.M732R	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	770					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TAACTTCTGCATCAAATTTTT	0.358													C	47689154	A	C	47689154	3	2	198	1	0	0	0	0	1	0	0	0	376	217	8	5	415	5	AGBL2	11	47689154	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1696342	47689154	87317362	806	109895											
FNBP4	23360	broad.mit.edu	37	chr11	47776215	47776215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaagcaagcatagaccGcctagaaacaaaaaggtaaa	8	10	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:47776215G>A	uc009ylv.2	-	3	468	c.315C>T	c.(313-315)GGC>GGT	p.G105G	FNBP4_uc001ngj.2_Silent_p.G12G|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	105										ovary(1)	1						AGCATAGACCGCCTAGAAACA	0.358													A	47776215	G	A	47776215	2	1	198	1	0	0	0	0	0	0	0	1	5967	1101	38	1		1	FNBP4	11	47776215	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	87061	47776215	87230301	807	109896											
NUP160	23279	broad.mit.edu	37	chr11	47828647	47828648	+	Frame_Shift_Del	DEL	AG	AG	-													ctatttgccattaaagcaccAgagtctgttaattccagtac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:47828646_47828647CAG>C	uc001ngm.3	-	18	2506_2507	c.2421_2422CTG>G	c.(2419-2424)tctggtfs	p.S807fs	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Frame_Shift_Del_p.S807fs	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	807					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding	p.S807C(1)		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						ATTAAAGCACCAGAGTCTGTTA	0.366													-	47828648	AG	-	47828647	7	5	198	1	0	1	0	1	0	0	0	0	10757	175	7	0	1961	0	NUP160	11	47828647	Frame_Shift_Del	DEL	AG	TCGA-CG-5733-01A-11D-1600-08	52432	47828647	87177869	808	109897											
OR8I2	120586	broad.mit.edu	37	chr11	55860815	55860815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatttcactgaggttaccgTcttcatcctctctggatttg	7	11	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55860815T>C	uc010rix.1	+	1	32	c.32T>C	c.(31-33)GTC>GCC	p.V11A		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GAGGTTACCGTCTTCATCCTC	0.388													C	55860815	T	C	55860815	3	2	198	1	0	0	0	0	1	0	0	0	11240	1667	58	3	34	3	OR8I2	11	55860815	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	8032168	55860815	79145701	809	109898											
OR8H3	390152	broad.mit.edu	37	chr11	55890135	55890135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactatatttccttcacggGctgctttgcccagatgttct	7	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55890135G>A	uc001nii.1	+	1	287	c.287G>A	c.(286-288)GGC>GAC	p.G96D		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TCCTTCACGGGCTGCTTTGCC	0.443													A	55890135	G	A	55890135	3	1	198	1	0	0	0	0	1	0	0	0	11239	1203	42	2	289	2	OR8H3	11	55890135	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	29320	55890135	79116381	810	109899											
OR5J2	282775	broad.mit.edu	37	chr11	55944530	55944530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgtgtggagcttgtcaCaggatcatggataggtggaa	15	4	2	0	rs138599396	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55944530C>T	uc010rjb.1	+	1	437	c.437C>T	c.(436-438)ACA>ATA	p.T146I		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					GAGCTTGTCACAGGATCATGG	0.448													T	55944530	C	T	55944530	3	4	198	1	0	0	0	0	1	0	0	0	11165	478	17	4	439	4	OR5J2	11	55944530	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	54395	55944530	79061986	811	109900											
OR5T2	219464	broad.mit.edu	37	chr11	55999773	55999773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttggtctcacatacaTgaagaggattgtcccataat	9	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55999773T>C	uc010rjc.1	-	1	889	c.889A>G	c.(889-891)ATG>GTG	p.M297V		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	297	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTCACATACATGAAGAGGATT	0.428													C	55999773	T	C	55999773	3	2	198	1	0	0	0	0	1	0	0	0	11182	1464	51	3	189	3	OR5T2	11	55999773	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	55243	55999773	79006743	812	109901											
SERPING1	710	broad.mit.edu	37	chr11	57369521	57369521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaggggctggggagaaCaccaaaacaaacctggagag	15	8	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:57369521C>A	uc001nkp.1	+	4	755	c.564C>A	c.(562-564)AAC>AAA	p.N188K	SERPING1_uc001nkq.1_Missense_Mutation_p.N188K|SERPING1_uc010rju.1_Missense_Mutation_p.N136K|SERPING1_uc010rjv.1_Missense_Mutation_p.N193K|SERPING1_uc001nkr.1_Missense_Mutation_p.N188K|SERPING1_uc009ymi.1_Missense_Mutation_p.N188K|SERPING1_uc009ymj.1_Missense_Mutation_p.N188K|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	188					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)	1						CTGGGGAGAACACCAAAACAA	0.557									Hereditary_Angioedema				A	57369521	C	A	57369521	3	1	198	1	0	0	0	0	1	0	0	0	14116	477	17	5	574	5	SERPING1	11	57369521	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1369748	57369521	77636995	813	109902											
CTNND1	1500	broad.mit.edu	37	chr11	57558992	57558993	+	Frame_Shift_Del	DEL	CT	CT	-													tcgaccgccagcatcttggcCtctgtgaaggaacaagaggc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:57558992_57558993delCT	uc001nmc.3	+	3	613_614	c.42_43delCT	c.(40-45)GCCTCTfs	p.A14fs	CTNND1_uc001nlf.1_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nmd.3_5'UTR|CTNND1_uc001nlk.3_5'UTR|CTNND1_uc001nme.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nll.3_5'UTR|CTNND1_uc001nmg.3_5'UTR|CTNND1_uc001nlj.3_5'UTR|CTNND1_uc001nlr.3_5'UTR|CTNND1_uc001nlp.3_5'UTR|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nli.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	14_15	Potential.				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(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				GCATCTTGGCCTCTGTGAAGGA	0.629													-	57558993	CT	-	57558992	7	5	198	1	0	1	0	1	0	0	0	0	4019	668	24	0	44	0	CTNND1	11	57558992	Frame_Shift_Del	DEL	CT	TCGA-CG-5733-01A-11D-1600-08	189471	57558992	77447524	814	109903											
OR10Q1	219960	broad.mit.edu	37	chr11	57995679	57995679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcacaggtgatgaacacGtaggagacgcagatgagcag	15	7	0	5	rs146817552	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:57995679G>A	uc010rkd.1	-	1	669	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				TGATGAACACGTAGGAGACGC	0.637													A	57995679	G	A	57995679	2	1	198	1	0	0	0	0	0	0	0	1	10916	1140	40	1		1	OR10Q1	11	57995679	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	436687	57995679	77010837	815	109904											
ZFP91	80829	broad.mit.edu	37	chr11	58377810	58377810	+	Splice_Site	DEL	A	A	-													gtctccaggtggcattaggtAaaaaaaacattaatatttca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:58377809_58377809TA>T	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	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)				TGGCATTAGGTAAAAAAAACA	0.313													-	58377810	A	-	58377810	8	5	198	1	0	1	0	1	0	0	1	0	17652	377	13	0		0	ZFP91	11	58377810	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	382131	58377810	76628706	816	109905											
FAM111B	374393	broad.mit.edu	37	chr11	58892216	58892216	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactttgtatttatgccTtgaagggtgagactattgaa	10	4	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:58892216T>G	uc001nnl.2	+	4	889	c.646T>G	c.(646-648)TTG>GTG	p.L216V	FAM111B_uc001nnm.2_Missense_Mutation_p.L186V|FAM111B_uc010rko.1_Missense_Mutation_p.L186V	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	216							catalytic activity			ovary(2)	2						TATTTATGCCTTGAAGGGTGA	0.363													G	58892216	T	G	58892216	3	3	198	1	0	0	0	0	1	0	0	0	5400	1606	56	5	652	5	FAM111B	11	58892216	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	514406	58892216	76114300	817	109906											
OSBP	5007	broad.mit.edu	37	chr11	59368824	59368824	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcattctcatcatcttcAtcgctcatgtcccctttgcc	3	15	6	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:59368824A>G	uc001noc.1	-	5	1536	c.1056T>C	c.(1054-1056)GAT>GAC	p.D352D	OSBP_uc009ymr.1_5'Flank	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	352					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CATCATCTTCATCGCTCATGT	0.393													G	59368824	A	G	59368824	2	3	198	1	0	0	0	0	0	0	0	1	11273	214	8	3		3	OSBP	11	59368824	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	476608	59368824	75637692	818	109907											
OSBP	5007	broad.mit.edu	37	chr11	59377902	59377902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggccagttccagggCcgtcacccagcgctgccgct	13	17	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:59377902C>T	uc001noc.1	-	2	1003	c.523G>A	c.(523-525)GCC>ACC	p.A175T		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	175	PH.				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGTTCCAGGGCCGTCACCCAG	0.537													T	59377902	C	T	59377902	3	4	198	1	0	0	0	0	1	0	0	0	11273	739	26	2	1952	2	OSBP	11	59377902	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	9078	59377902	75628614	819	109908											
MS4A5	64232	broad.mit.edu	37	chr11	60197170	60197170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattcaagcaccgcacacaGtccggtgtttctggtatttc	10	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:60197170G>T	uc001npo.2	+	1	109	c.23G>T	c.(22-24)AGT>ATT	p.S8I		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member	8	Cytoplasmic (Potential).					integral to membrane	receptor activity			large_intestine(1)|ovary(1)	2						ACCGCACACAGTCCGGTGTTT	0.433													T	60197170	G	T	60197170	3	4	198	1	0	0	0	0	1	0	0	0	9863	1029	36	5	25	5	MS4A5	11	60197170	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	819268	60197170	74809346	820	109909											
VWCE	220001	broad.mit.edu	37	chr11	61053785	61053785	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattccttctctgcagctcaCcttggcagctgtggcggtcg	11	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:61053785C>T	uc001nra.2	-	5	820	c.541_splice	c.e5+1	p.D181_splice	VWCE_uc001nrb.2_Splice_Site	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains							extracellular region	calcium ion binding			ovary(1)	1						CTGCAGCTCACCTTGGCAGCT	0.433													T	61053785	C	T	61053785	5	4	198	1	0	0	0	0	0	0	1	0	17242	521	18	4	2389	4	VWCE	11	61053785	Splice_Site	SNP	C	TCGA-CG-5733-01A-11D-1600-08	856615	61053785	73952731	821	109910											
AHNAK	79026	broad.mit.edu	37	chr11	62284419	62284419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccaatccaccaaaggTaccgaatttcagcttcccgt	6	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:62284419T>C	uc001ntl.2	-	5	17770	c.17470A>G	c.(17470-17472)ACC>GCC	p.T5824A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5824					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCACCAAAGGTACCGAATTTC	0.547													C	62284419	T	C	62284419	3	2	198	1	0	0	0	0	1	0	0	0	414	1638	57	3	322	3	AHNAK	11	62284419	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1230634	62284419	72722097	822	109911											
UBXN1	51035	broad.mit.edu	37	chr11	62445451	62445451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcctcagcagcccggcGcatctcatcttcctgtagcc	7	19	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:62445451G>A	uc001nul.1	-	5	562	c.430C>T	c.(430-432)CGC>TGC	p.R144C	UBXN1_uc001nuj.2_Missense_Mutation_p.R144C|UBXN1_uc001num.1_Missense_Mutation_p.R144C|UBXN1_uc001nuk.2_Missense_Mutation_p.R109C|UBXN1_uc010rme.1_Missense_Mutation_p.R144C|UBXN1_uc010rmf.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	144	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						GCAGCCCGGCGCATCTCATCT	0.567													A	62445451	G	A	62445451	3	1	198	1	0	0	0	0	1	0	0	0	16908	1087	38	1	524	1	UBXN1	11	62445451	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	161032	62445451	72561065	823	109912											
CHRM1	1128	broad.mit.edu	37	chr11	62677433	62677433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcaccatgatgttgtaCggtgtccaggtgaggatgaa	13	8	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:62677433C>T	uc001nwi.2	-	2	1541	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	380	Helical; Name=6; (By similarity).				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				0					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)	TGATGTTGTACGGTGTCCAGG	0.592													T	62677433	C	T	62677433	2	4	198	1	0	0	0	0	0	0	0	1	3376	523	19	1		1	CHRM1	11	62677433	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	231982	62677433	72329083	824	109913											
HRASLS5	117245	broad.mit.edu	37	chr11	63256439	63256439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctccaagctaactacAgccttctccctaaatgattt	6	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:63256439A>G	uc001nwy.2	-	3	453	c.279T>C	c.(277-279)GCT>GCC	p.A93A	HRASLS5_uc001nwz.2_Silent_p.A83A|HRASLS5_uc010rmq.1_Silent_p.A93A|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	93										ovary(1)	1						AGCTAACTACAGCCTTCTCCC	0.373													G	63256439	A	G	63256439	2	3	198	1	0	0	0	0	0	0	0	1	7351	175	7	3		3	HRASLS5	11	63256439	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	579006	63256439	71750077	825	109914											
RCOR2	283248	broad.mit.edu	37	chr11	63680357	63680357	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catacctccggggggcgtagTggatcaataccgccctccag	12	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:63680357T>A	uc001nyc.2	-	9	1342	c.954A>T	c.(952-954)CCA>CCT	p.P318P		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						GGGGGCGTAGTGGATCAATAC	0.577													A	63680357	T	A	63680357	2	1	198	1	0	0	0	0	0	0	0	1	13183	1683	59	5		5	RCOR2	11	63680357	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	423918	63680357	71326159	826	109915											
FLRT1	23769	broad.mit.edu	37	chr11	63884462	63884462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaccagcgcatcgccgaCgacaccttcagccgcctaca	8	19	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:63884462C>T	uc001nyi.1	+	2	1064	c.723C>T	c.(721-723)GAC>GAT	p.D241D	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	213	Extracellular (Potential).|LRR 7.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						GCATCGCCGACGACACCTTCA	0.662													T	63884462	C	T	63884462	2	4	198	1	0	0	0	0	0	0	0	1	5938	535	19	1		1	FLRT1	11	63884462	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	204105	63884462	71122054	827	109916											
PRDX5	25824	broad.mit.edu	37	chr11	64087315	64087315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtttggagttcctgGggccttcacccctggatgtt	13	10	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64087315G>T	uc001nzu.2	+	2	400	c.281G>T	c.(280-282)GGG>GTG	p.G94V	TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Missense_Mutation_p.G94V|PRDX5_uc001nzw.2_Intron|PRDX5_uc001nzx.2_RNA	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	94	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	GGAGTTCCTGGGGCCTTCACC	0.552													T	64087315	G	T	64087315	3	4	198	1	0	0	0	0	1	0	0	0	12468	1232	43	5	287	5	PRDX5	11	64087315	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	202853	64087315	70919201	828	109917											
RPS6KA4	8986	broad.mit.edu	37	chr11	64132907	64132907	+	Frame_Shift_Del	DEL	C	C	-													gtctactcaccccctggcagCcccccacctggggacccccg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64132906_64132906GC>G	uc001oae.3	+	8	1123	c.1040_1040GC>G	c.(1039-1041)agcfs	p.S347fs	RPS6KA4_uc001oad.3_Frame_Shift_Del_p.S347fs|RPS6KA4_uc010rnl.2_Frame_Shift_Del_p.S284fs|RPS6KA4_uc001oaf.3_Frame_Shift_Del_p.S347fs|RPS6KA4_uc009ypp.3_Frame_Shift_Del_p.S347fs	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	347	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCCTGGCAGCCCCCCACCT	0.602													-	64132907	C	-	64132907	7	5	198	1	0	1	0	1	0	0	0	0	13653	738	26	0	1075	0	RPS6KA4	11	64132907	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	45592	64132907	70873609	829	109918											
EHD1	10938	broad.mit.edu	37	chr11	64621945	64621945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccgtccttgtccacgtCggccagcttccagatcttcc	8	18	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64621945C>T	uc001obu.1	-	5	1720	c.1465G>A	c.(1465-1467)GAC>AAC	p.D489N	EHD1_uc001obt.1_Missense_Mutation_p.D172N|EHD1_uc001obv.1_Missense_Mutation_p.D489N|EHD1_uc010rnq.1_Missense_Mutation_p.D503N	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	489	EH.|EF-hand.|				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				0						TTGTCCACGTCGGCCAGCTTC	0.632													T	64621945	C	T	64621945	3	4	198	1	0	0	0	0	1	0	0	0	4977	884	31	1	143	1	EHD1	11	64621945	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	489038	64621945	70384571	830	109919											
EHD1	10938	broad.mit.edu	37	chr11	64627811	64627811	+	Splice_Site	DEL	G	G	-													cggctgcaaagtcatagcctGgggggaagagaagggagagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64627810_64627810TG>T	uc010rnq.1	-	4	592	c.545_splice	c.e4-1	p.G182_splice	EHD1_uc001obu.1_Splice_Site_p.G168_splice|EHD1_uc001obv.1_Splice_Site_p.G168_splice	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	168				ERV -> DCW (in Ref. 2; AAD45866).	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|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGTCATAGCCTGGGGGGAAGA	0.582													-	64627811	G	-	64627811	8	5	198	1	0	1	0	1	0	0	1	0	4977	1363	47	0		0	EHD1	11	64627811	Splice_Site	DEL	G	TCGA-CG-5733-01A-11D-1600-08	5866	64627811	70378705	831	109920											
SCYL1	57410	broad.mit.edu	37	chr11	65298178	65298178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattccctgaggatttctgtCggcacaaggtgctgccccag	11	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:65298178C>T	uc001oea.1	+	7	1005	c.928C>T	c.(928-930)CGG>TGG	p.R310W	SCYL1_uc009yqk.2_Missense_Mutation_p.R310W|SCYL1_uc001oeb.1_Missense_Mutation_p.R310W|SCYL1_uc001oec.1_Missense_Mutation_p.R310W|SCYL1_uc001oed.1_Missense_Mutation_p.R167W|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	310	Protein kinase.				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			skin(1)	1						GGATTTCTGTCGGCACAAGGT	0.597													T	65298178	C	T	65298178	3	4	198	1	0	0	0	0	1	0	0	0	13947	875	31	1	954	1	SCYL1	11	65298178	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	670367	65298178	69708338	832	109921											
PCNXL3	399909	broad.mit.edu	37	chr11	65396147	65396147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggctcggctttccacGcttttgcccagccgtttgcc	11	16	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:65396147G>A	uc001oey.2	+	23	3784	c.3784G>A	c.(3784-3786)GCT>ACT	p.A1262T	PCNXL3_uc001oez.2_Missense_Mutation_p.A149T	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1262	Helical; (Potential).					integral to membrane					0						GGCTTTCCACGCTTTTGCCCA	0.657													A	65396147	G	A	65396147	3	1	198	1	0	0	0	0	1	0	0	0	11593	1087	38	1	3874	1	PCNXL3	11	65396147	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	97969	65396147	69610369	833	109922											
KLC2	64837	broad.mit.edu	37	chr11	66033664	66033664	+	Frame_Shift_Del	DEL	C	C	-													aaagaagctgcaggggggcaCcccccaggagccccctaacc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:66033663_66033663AC>A	uc010rov.1	+	13	1945	c.1702_1702AC>A	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Del_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Del_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGA	0.652													-	66033664	C	-	66033664	7	5	198	1	0	1	0	1	0	0	0	0	8334	507	18	0	1753	0	KLC2	11	66033664	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	637517	66033664	68972852	834	109923											
RIN1	9610	broad.mit.edu	37	chr11	66102465	66102465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggactgcccctggcagcaCggggacggggggaggtggca	22	10	0	0	rs141270180	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:66102465C>T	uc001ohn.1	-	6	932	c.805G>A	c.(805-807)GTG>ATG	p.V269M	RIN1_uc010roy.1_Translation_Start_Site|RIN1_uc009yrd.1_Translation_Start_Site|RIN1_uc010roz.1_Missense_Mutation_p.V164M|RIN1_uc010rpa.1_Missense_Mutation_p.V164M	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	269					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CCTGGCAGCACGGGGACGGGG	0.667													T	66102465	C	T	66102465	3	4	198	1	0	0	0	0	1	0	0	0	13371	536	19	1	1566	1	RIN1	11	66102465	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	68801	66102465	68904051	835	109924											
KDM2A	22992	broad.mit.edu	37	chr11	67020972	67020972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggtctgcagtctctgCcctcagcacctccagctgcc	8	19	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:67020972C>T	uc001ojw.2	+	19	3845	c.2981C>T	c.(2980-2982)GCC>GTC	p.A994V	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.A688V|KDM2A_uc001ojz.1_Missense_Mutation_p.A452V|KDM2A_uc001oka.2_Missense_Mutation_p.A118V	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	994	LRR 2.				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			ovary(4)|lung(3)|breast(1)|skin(1)	9						GCAGTCTCTGCCCTCAGCACC	0.537													T	67020972	C	T	67020972	3	4	198	1	0	0	0	0	1	0	0	0	8124	739	26	2	3051	2	KDM2A	11	67020972	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	918507	67020972	67985544	836	109925											
CABP4	57010	broad.mit.edu	37	chr11	67225877	67225877	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggacgaattacggtggcGgagctgcgggaggcggtacc	19	8	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:67225877G>T	uc001olo.2	+	5	764	c.687G>T	c.(685-687)GCG>GCT	p.A229A	CABP4_uc001oln.2_Silent_p.A124A	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	229	EF-hand 3.|2 (Potential).				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTACGGTGGCGGAGCTGCGGG	0.647													T	67225877	G	T	67225877	2	4	198	1	0	0	0	0	0	0	0	1	2533	1103	39	5		5	CABP4	11	67225877	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	204905	67225877	67780639	837	109926											
UNC93B1	81622	broad.mit.edu	37	chr11	67766761	67766761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtgggagtactcatggTacttctgcgccatcctggac	12	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:67766761T>C	uc001omw.1	-	5	649	c.569A>G	c.(568-570)TAC>TGC	p.Y190C		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1	190					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					0						GTACTCATGGTACTTCTGCGC	0.627													C	67766761	T	C	67766761	3	2	198	1	0	0	0	0	1	0	0	0	16994	1638	57	3	1251	3	UNC93B1	11	67766761	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	540884	67766761	67239755	838	109927											
IGHMBP2	3508	broad.mit.edu	37	chr11	68696803	68696803	+	Frame_Shift_Del	DEL	C	C	-													cgggcgatcacaagcagctgCcccccaccacagtctctcac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:68696802_68696802GC>G	uc001ook.1	+	7	1314	c.1212_1212GC>G	c.(1210-1212)ctgfs	p.L404fs	IGHMBP2_uc001ooj.1_Non-coding_Transcript|IGHMBP2_uc001ool.1_5'Flank|IGHMBP2_uc001oom.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	404	Leu-rich.				DNA recombination|DNA repair|DNA replication|cell death|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|tRNA binding|transcription factor 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)			ACAAGCAGCTGCCCCCCACCA	0.642													-	68696803	C	-	68696803	7	5	198	1	0	1	0	1	0	0	0	0	7591	739	26	0	1243	0	IGHMBP2	11	68696803	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	930042	68696803	66309713	839	109928											
MRGPRD	116512	broad.mit.edu	37	chr11	68747812	68747812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaacagccgtgtgggcTgccgccgccactgctgggag	15	15	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:68747812T>C	uc010rqf.1	-	1	644	c.644A>G	c.(643-645)CAG>CGG	p.Q215R		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	215	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGTGTGGGCTGCCGCCGCCA	0.612													C	68747812	T	C	68747812	3	2	198	1	0	0	0	0	1	0	0	0	9763	1580	55	3	324	3	MRGPRD	11	68747812	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	51009	68747812	66258704	840	109929											
TPCN2	219931	broad.mit.edu	37	chr11	68822754	68822754	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctccctgggagccgccCtgcggcctgaccgagagtgt	15	15	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:68822754C>A	uc001oos.2	+	4	479	c.363C>A	c.(361-363)CCC>CCA	p.P121P	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.P121P	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	121	Extracellular (Potential).				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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGGAGCCGCCCTGCGGCCTGA	0.642													A	68822754	C	A	68822754	2	1	198	1	0	0	0	0	0	0	0	1	16393	668	24	5		5	TPCN2	11	68822754	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	74942	68822754	66183762	841	109930											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293816	71293816	+	Frame_Shift_Del	DEL	C	C	-													ccccacagccagagccacagCccccactgccggagccacag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:71293815_71293815GC>G	uc001oqu.3	-	0	107	c.69_69GC>C	c.(67-69)ggcfs	p.G23fs		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	23						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAGAGCCACAGCCCCCACTGC	0.632													-	71293816	C	-	71293816	7	5	198	1	0	1	0	1	0	0	0	0	8560	739	26	0	406	0	KRTAP5-11	11	71293816	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	2471062	71293816	63712700	842	109931											
FCHSD2	9873	broad.mit.edu	37	chr11	72712093	72712093	+	Frame_Shift_Del	DEL	T	T	-													ttgcaggctcagaaatgaagTttttatagttttcacatata							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:72712093delT	uc009ytl.2	-	5	550	c.329delA	c.(328-330)AACfs	p.N110fs	FCHSD2_uc010rrg.1_Intron|FCHSD2_uc001oth.3_Frame_Shift_Del_p.N54fs|FCHSD2_uc001oti.2_Frame_Shift_Del_p.N69fs	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	110							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGAAATGAAGTTTTTATAGTT	0.363													-	72712093	T	-	72712093	7	5	198	1	0	1	0	1	0	0	0	0	5790	1725	60	0	1957	0	FCHSD2	11	72712093	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	1418277	72712093	62294423	843	109932											
TRIM49	57093	broad.mit.edu	37	chr11	89537482	89537482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgactttgtgcattcagaGcactggacaagaaatgggat	12	6	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:89537482G>A	uc001pdb.2	-	3	485	c.156C>T	c.(154-156)TGC>TGT	p.C52C		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	52	RING-type.					intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGCATTCAGAGCACTGGACAA	0.458													A	89537482	G	A	89537482	2	1	198	1	0	0	0	0	0	0	0	1	16521	963	34	2		2	TRIM49	11	89537482	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	16825389	89537482	45469034	844	109933											
CCDC67	159989	broad.mit.edu	37	chr11	93148249	93148249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagaaatgacaagtcCtttggttagtgatgatgatg	11	5	0	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:93148249C>A	uc001pdq.2	+	13	1707	c.1607C>A	c.(1606-1608)CCT>CAT	p.P536H	CCDC67_uc001pdo.1_Missense_Mutation_p.P536H	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	536										ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATGACAAGTCCTTTGGTTAGT	0.398													A	93148249	C	A	93148249	3	1	198	1	0	0	0	0	1	0	0	0	2839	681	24	5	1653	5	CCDC67	11	93148249	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3610767	93148249	41858267	845	109934											
MAML2	84441	broad.mit.edu	37	chr11	95724810	95724810	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggagttcatgtaaccActtccagtgtttggatttga	11	7	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:95724810A>T	uc001pfw.1	-	3	3502	c.2217T>A	c.(2215-2217)AGT>AGA	p.S739R		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	739					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCATGTAACCACTTCCAGTGT	0.483			T	MECT1|CRTC3	salivary gland mucoepidermoid								T	95724810	A	T	95724810	3	4	198	1	0	0	0	0	1	0	0	0	9206	156	6	5	1265	5	MAML2	11	95724810	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2576561	95724810	39281706	846	109935											
MMP10	4319	broad.mit.edu	37	chr11	102650395	102650396	+	Frame_Shift_Ins	INS	-	-	T													aacttctgcattccttggatINSttttttaacaatgagattac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:102650394_102650395A>AT	uc001phg.2	-	1	224_225	c.187_188T>AT	c.(187-189)atcfs	p.I63fs		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	63					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)		CATTCCTTGGATTTTTTTAACA	0.421													T	102650396	-	T	102650395	7	5	198	1	0	1	1	0	0	0	0	0	9649	1493	52	0	1279	0	MMP10	11	102650395	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	6925585	102650395	32356121	847	109936											
CASP5	838	broad.mit.edu	37	chr11	104878019	104878019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaacatctttgcccAggtattccaacatcttaact	5	11	2	2	rs45585331	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:104878019A>G	uc010rva.1	-	3	256	c.224T>C	c.(223-225)CTG>CCG	p.L75P	CASP5_uc010ruz.1_Missense_Mutation_p.L88P|CASP5_uc010rvb.1_Missense_Mutation_p.L17P|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	75	CARD.		L -> R.		apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		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)		ATCTTTGCCCAGGTATTCCAA	0.338													G	104878019	A	G	104878019	3	3	198	1	0	0	0	0	1	0	0	0	2674	188	7	3	1108	3	CASP5	11	104878019	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2227624	104878019	30128497	848	109937											
ALKBH8	91801	broad.mit.edu	37	chr11	107427670	107427670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccacatttctctaaaacCgggagcagctggttccgact	9	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:107427670C>T	uc010rvr.1	-	3	264	c.189G>A	c.(187-189)CCG>CCA	p.P63P	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Silent_p.P63P|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	63	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				0		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)		TCTCTAAAACCGGGAGCAGCT	0.428													T	107427670	C	T	107427670	2	4	198	1	0	0	0	0	0	0	0	1	533	639	23	1		1	ALKBH8	11	107427670	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2549651	107427670	27578846	849	109938											
DDX10	1662	broad.mit.edu	37	chr11	108811067	108811067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagaaagaaggccaggtggGacactttagagcctttggat	13	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:108811067G>T	uc001pkm.2	+	18	2610	c.2545G>T	c.(2545-2547)GAC>TAC	p.D849Y		NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	849							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		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)		GGCCAGGTGGGACACTTTAGA	0.488			T	NUP98	AML*								T	108811067	G	T	108811067	3	4	198	1	0	0	0	0	1	0	0	0	4342	1174	41	5	2615	5	DDX10	11	108811067	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1383397	108811067	26195449	850	109939											
C11orf57	55216	broad.mit.edu	37	chr11	111953316	111953316	+	Frame_Shift_Del	DEL	A	A	-													agcagaaaaaaaggtcacacAaaaaacagaagaaaagcaaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:111953315_111953315CA>C	uc001pmw.4	+	5	624	c.501_501CA>C	c.(499-501)cacfs	p.H167fs	C11orf57_uc001pmr.4_Frame_Shift_Del_p.H166fs|C11orf57_uc001pmt.4_Frame_Shift_Del_p.H167fs|C11orf57_uc001pmv.4_Frame_Shift_Del_p.H166fs|C11orf57_uc001pms.4_Frame_Shift_Del_p.H138fs	NM_001082969	NP_060665	Q6ZUT1	CK057_HUMAN	Homo sapiens chromosome 11 open reading frame 57 (C11orf57), transcript variant 2, mRNA.	166	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAGGTCACACAAAAAACAGA	0.413													-	111953316	A	-	111953316	7	5	198	1	0	1	0	1	0	0	0	0	1650	131	5	0	520	0	C11orf57	11	111953316	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	3142249	111953316	23053200	851	109940											
RBM7	10179	broad.mit.edu	37	chr11	114278448	114278448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatttcttctatgaagacagGaatcatgatgactggagcca	10	7	3	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:114278448G>T	uc001pov.2	+	5	730	c.720G>T	c.(718-720)AGG>AGT	p.R240S	RBM7_uc001pow.2_Missense_Mutation_p.R241S|RBM7_uc001pox.2_Missense_Mutation_p.R120S	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	240					meiosis		nucleotide binding|protein binding|RNA binding			ovary(2)	2		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)		ATGAAGACAGGAATCATGATG	0.418													T	114278448	G	T	114278448	3	4	198	1	0	0	0	0	1	0	0	0	13145	1165	41	5	738	5	RBM7	11	114278448	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2325132	114278448	20728068	852	109941											
FAM55A	120400	broad.mit.edu	37	chr11	114392799	114392799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccaggcatcaatgatgCccacgttgaggtctttgaaa	10	10	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:114392799C>T	uc001ppa.2	-	6	1526	c.1109G>A	c.(1108-1110)GGC>GAC	p.G370D	FAM55A_uc010rxd.1_Missense_Mutation_p.G219D	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	512						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		ATCAATGATGCCCACGTTGAG	0.413													T	114392799	C	T	114392799	3	4	198	1	0	0	0	0	1	0	0	0	5584	739	26	2	112	2	FAM55A	11	114392799	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	114351	114392799	20613717	853	109942											
ZNF259	8882	broad.mit.edu	37	chr11	116655132	116655132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagttctcgcagttggtagCcatgatgataacctccttaa	8	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:116655132C>T	uc001ppp.2	-	9	886	c.853G>A	c.(853-855)GCT>ACT	p.A285T	ZNF259_uc009yzd.2_Missense_Mutation_p.A285T|ZNF259_uc001ppq.2_Missense_Mutation_p.A215T	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	285	C4-type 2.				cell proliferation|signal transduction	cytoplasm|nucleolus					0	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;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CAGTTGGTAGCCATGATGATA	0.473													T	116655132	C	T	116655132	3	4	198	1	0	0	0	0	1	0	0	0	17798	739	26	2	550	2	ZNF259	11	116655132	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2262333	116655132	18351384	854	109943											
RNF214	257160	broad.mit.edu	37	chr11	117152818	117152818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaatagccctggcttggGttcccttgtcagcccccacg	10	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:117152818G>A	uc001pqt.2	+	11	1589	c.1544G>A	c.(1543-1545)GGT>GAT	p.G515D	RNF214_uc001pqu.2_Missense_Mutation_p.G515D|RNF214_uc010rxf.1_Missense_Mutation_p.G360D	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	515	Pro-rich.						zinc ion binding				0	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)		CCTGGCTTGGGTTCCCTTGTC	0.637													A	117152818	G	A	117152818	3	1	198	1	0	0	0	0	1	0	0	0	13478	1261	44	4	1582	4	RNF214	11	117152818	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	497686	117152818	17853698	855	109944											
SCN2B	6327	broad.mit.edu	37	chr11	118038845	118038845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccatggccacggtggcGgtcaggggggttcatgatgt	17	9	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118038845G>A	uc001psf.2	-	3	594	c.403C>T	c.(403-405)CGC>TGC	p.R135C		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	135	Ig-like C2-type.|Extracellular (Potential).				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	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;3.19e-05)|Epithelial(105;0.00117)		CCACGGTGGCGGTCAGGGGGG	0.597													A	118038845	G	A	118038845	3	1	198	1	0	0	0	0	1	0	0	0	13917	1116	39	1	252	1	SCN2B	11	118038845	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	886027	118038845	16967671	856	109945											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	198	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-CG-5733-01A-11D-1600-08	590769	118629614	16376902	857	109946											
CXCR5	643	broad.mit.edu	37	chr11	118765004	118765004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcgccaggcccagcggCgccctcagcggcagaaggca	16	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118765004C>T	uc001pue.3	+	2	861	c.751C>T	c.(751-753)CGC>TGC	p.R251C	CXCR5_uc001puf.2_Missense_Mutation_p.R206C	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	251	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	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)		GGCCCAGCGGCGCCCTCAGCG	0.622													T	118765004	C	T	118765004	3	4	198	1	0	0	0	0	1	0	0	0	4094	768	27	1	757	1	CXCR5	11	118765004	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	135390	118765004	16241512	858	109947											
HYOU1	10525	broad.mit.edu	37	chr11	118918526	118918527	+	Frame_Shift_Ins	INS	-	-	C													atctctgggatgagccgggcINSccccctggaagccagaaagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118918525_118918526G>GC	uc001puu.2	-	21	2708_2709	c.2515_2516C>GC	c.(2515-2517)gccfs	p.A839fs	HYOU1_uc001put.2_Frame_Shift_Ins_p.A804fs|HYOU1_uc010ryu.1_Frame_Shift_Ins_p.A797fs|HYOU1_uc010ryv.1_Frame_Shift_Ins_p.A728fs|HYOU1_uc001pux.3_Frame_Shift_Ins_p.A839fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	839						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)		GATGAGCCGGGCCCCCCTGGAA	0.54													C	118918527	-	C	118918526	7	5	198	1	0	1	1	0	0	0	0	0	7470	739	26	0	504	0	HYOU1	11	118918526	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	153522	118918526	16087990	859	109948											
VPS11	55823	broad.mit.edu	37	chr11	118951928	118951928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttactcggaaagtgatgcTgactgccccacctgcctccc	9	15	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118951928T>C	uc010ryx.1	+	16	2607	c.2565T>C	c.(2563-2565)GCT>GCC	p.A855A	VPS11_uc010ryy.1_Silent_p.A701A	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	855	RING-type.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	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)		AAAGTGATGCTGACTGCCCCA	0.537													C	118951928	T	C	118951928	2	2	198	1	0	0	0	0	0	0	0	1	17185	1567	55	3		3	VPS11	11	118951928	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	33402	118951928	16054588	860	109949											
CBL	867	broad.mit.edu	37	chr11	119155727	119155727	+	Frame_Shift_Del	DEL	C	C	-													tggccccacaagcttcccttCccccggtgccaccacgactt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:119155726_119155726TC>T	uc001pwe.3	+	9	1617	c.1479_1479TC>T	c.(1477-1479)cttfs	p.L493fs		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	493	Pro-rich.				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	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			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)		AAGCTTCCCTTCCCCCGGTGC	0.498			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	119155727	C	-	119155727	7	5	198	1	0	1	0	1	0	0	0	0	2700	855	30	0	1518	0	CBL	11	119155727	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	203799	119155727	15850789	861	109950											
OAF	220323	broad.mit.edu	37	chr11	120097609	120097609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtcaacttcagccagGgggccctgctgagcccccat	11	16	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:120097609G>T	uc001pxb.2	+	3	692	c.451G>T	c.(451-453)GGG>TGG	p.G151W		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	151											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CTTCAGCCAGGGGGCCCTGCT	0.627													T	120097609	G	T	120097609	3	4	198	1	0	0	0	0	1	0	0	0	10798	1232	43	5	461	5	OAF	11	120097609	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	941882	120097609	14908907	862	109951											
ARHGEF12	23365	broad.mit.edu	37	chr11	120350878	120350878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgacattgcaacttgtTacagtccacggacttcaact	8	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:120350878T>C	uc001pxl.1	+	38	3983	c.3976T>C	c.(3976-3978)TAC>CAC	p.Y1326H	ARHGEF12_uc009zat.2_Missense_Mutation_p.Y1307H|ARHGEF12_uc009zau.1_Missense_Mutation_p.Y1223H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1326					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			lung(2)|breast(2)|skin(2)|ovary(1)	7		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)		TGCAACTTGTTACAGTCCACG	0.453			T	MLL	AML								C	120350878	T	C	120350878	3	2	198	1	0	0	0	0	1	0	0	0	897	1754	61	3	4126	3	ARHGEF12	11	120350878	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	253269	120350878	14655638	863	109952											
BSX	390259	broad.mit.edu	37	chr11	122848567	122848567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcagttgctttttatgCttcatccgccggttctggaa	9	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:122848567C>T	uc010rzs.1	-	3	492	c.492G>A	c.(490-492)AAG>AAA	p.K164K		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	164	Homeobox.										0		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)		GCTTTTTATGCTTCATCCGCC	0.552													T	122848567	C	T	122848567	2	4	198	1	0	0	0	0	0	0	0	1	1535	796	28	2		2	BSX	11	122848567	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2497689	122848567	12157949	864	109953											
OR10S1	219873	broad.mit.edu	37	chr11	123847892	123847892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggtgtggattgcagcGtgcgtggcacctatggccca	17	9	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:123847892G>A	uc001pzm.1	-	1	507	c.507C>T	c.(505-507)CAC>CAT	p.H169H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	169	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		GGATTGCAGCGTGCGTGGCAC	0.567													A	123847892	G	A	123847892	2	1	198	1	0	0	0	0	0	0	0	1	10918	1136	40	1		1	OR10S1	11	123847892	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	999325	123847892	11158624	865	109954											
VWA5A	4013	broad.mit.edu	37	chr11	123988930	123988930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaagccatctcccaggGccaccaggccttcttattgg	10	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:123988930G>A	uc001pzu.2	+	5	490	c.281G>A	c.(280-282)GGC>GAC	p.G94D	VWA5A_uc001pzr.2_Missense_Mutation_p.G94D|VWA5A_uc001pzs.2_Missense_Mutation_p.G94D|VWA5A_uc010sae.1_Missense_Mutation_p.G110D|VWA5A_uc001pzt.2_Missense_Mutation_p.G94D	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	94	VIT.									upper_aerodigestive_tract(1)|ovary(1)	2						ATCTCCCAGGGCCACCAGGCC	0.567													A	123988930	G	A	123988930	3	1	198	1	0	0	0	0	1	0	0	0	17239	1203	42	2	291	2	VWA5A	11	123988930	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	141038	123988930	11017586	866	109955											
OR8B4	283162	broad.mit.edu	37	chr11	124294398	124294398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagggggttgcagatggCcacatagcgatcataggcca	15	9	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:124294398C>T	uc010sak.1	-	1	370	c.370G>A	c.(370-372)GCC>ACC	p.A124T		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		TTGCAGATGGCCACATAGCGA	0.478													T	124294398	C	T	124294398	3	4	198	1	0	0	0	0	1	0	0	0	11229	739	26	2	561	2	OR8B4	11	124294398	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	305468	124294398	10712118	867	109956											
FEZ1	9638	broad.mit.edu	37	chr11	125330437	125330437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtctgtgtcaatgcctgCatctcctgcaggaggaccga	12	11	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:125330437C>T	uc001qbx.2	-	5	776	c.624G>A	c.(622-624)ATG>ATA	p.M208I	FEZ1_uc010sbc.1_Missense_Mutation_p.M179I	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	208					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	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)		TCAATGCCTGCATCTCCTGCA	0.597													T	125330437	C	T	125330437	3	4	198	1	0	0	0	0	1	0	0	0	5823	710	25	2	578	2	FEZ1	11	125330437	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1036039	125330437	9676079	868	109957											
DDX25	29118	broad.mit.edu	37	chr11	125778397	125778397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttggaattgttcccacAggtaagggaaggctgagaga	14	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:125778397A>G	uc001qcz.3	+	6	647	c.506A>G	c.(505-507)CAG>CGG	p.Q169R	DDX25_uc010sbk.1_Missense_Mutation_p.Q169R	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 25	169	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			ovary(1)	1	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)		TTGTTCCCACAGGTAAGGGAA	0.453													G	125778397	A	G	125778397	3	3	198	1	0	0	0	0	1	0	0	0	4352	202	7	3	528	3	DDX25	11	125778397	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	447960	125778397	9228119	869	109958											
KIRREL3	84623	broad.mit.edu	37	chr11	126306785	126306785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagatggtctggaagtcGgcccgcacgatgttgctgat	14	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:126306785G>A	uc001qea.2	-	12	1834	c.1473C>T	c.(1471-1473)GCC>GCT	p.A491A	KIRREL3_uc001qeb.2_Silent_p.A491A|KIRREL3_uc001qec.1_Silent_p.A491A|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	491	Extracellular (Potential).|Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	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)		TCTGGAAGTCGGCCCGCACGA	0.612													A	126306785	G	A	126306785	2	1	198	1	0	0	0	0	0	0	0	1	8326	1103	39	1		1	KIRREL3	11	126306785	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	528388	126306785	8699731	870	109959											
APLP2	334	broad.mit.edu	37	chr11	130013273	130013273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccccagaagagcgtcAcctgaacaagatgcagaacc	9	14	2	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:130013273A>G	uc010sby.1	+	18	2379	c.2222A>G	c.(2221-2223)CAC>CGC	p.H741R	APLP2_uc001qfp.2_Missense_Mutation_p.H729R|APLP2_uc001qfq.2_Missense_Mutation_p.H673R|APLP2_uc010sbz.1_Missense_Mutation_p.H529R|APLP2_uc001qfr.2_Missense_Mutation_p.H495R|APLP2_uc001qfs.2_Missense_Mutation_p.H500R|APLP2_uc001qfv.2_Missense_Mutation_p.H632R|APLP2_uc009zcv.2_Missense_Mutation_p.H89R	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	741	Cytoplasmic (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		GAAGAGCGTCACCTGAACAAG	0.557													G	130013273	A	G	130013273	3	3	198	1	0	0	0	0	1	0	0	0	779	159	6	3	2292	3	APLP2	11	130013273	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3706488	130013273	4993243	871	109960											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278368	130278368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagactcacttggtggggGtgagggacccggagaccttc	18	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:130278368G>A	uc001qgg.3	-	8	2448	c.2090C>T	c.(2089-2091)ACC>ATC	p.T697I	ADAMTS8_uc001qgf.2_Missense_Mutation_p.T178I	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	697	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)	1	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)		CTTGGTGGGGGTGAGGGACCC	0.448													A	130278368	G	A	130278368	3	1	198	1	0	0	0	0	1	0	0	0	272	1261	44	4	587	4	ADAMTS8	11	130278368	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	265095	130278368	4728148	872	109961											
NCAPD3	23310	broad.mit.edu	37	chr11	134037945	134037945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacatttgccaaggccatGtcatcttcttccataaggag	7	11	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:134037945G>A	uc001qhd.1	-	27	4125	c.3519C>T	c.(3517-3519)GAC>GAT	p.D1173D	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.D123D	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1173					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		CCAAGGCCATGTCATCTTCTT	0.453													A	134037945	G	A	134037945	2	1	198	1	0	0	0	0	0	0	0	1	10206	1368	48	4		4	NCAPD3	11	134037945	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3759577	134037945	968571	873	109962											
VPS26B	112936	broad.mit.edu	37	chr11	134104900	134104900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgactttgagtttacccaCgtggagaagccgtatgagtc	11	9	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:134104900C>T	uc001qhe.2	+	2	789	c.333C>T	c.(331-333)CAC>CAT	p.H111H		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	111					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGTTTACCCACGTGGAGAAGC	0.567													T	134104900	C	T	134104900	2	4	198	1	0	0	0	0	0	0	0	1	17195	535	19	1		1	VPS26B	11	134104900	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	66955	134104900	901616	874	109963											
ACAD8	27034	broad.mit.edu	37	chr11	134131231	134131231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagaccacctcaatgtcCggaagcagtttggagagcct	11	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:134131231C>T	uc001qhk.2	+	8	965	c.904C>T	c.(904-906)CGG>TGG	p.R302W	ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.R225W|ACAD8_uc001qhl.2_Missense_Mutation_p.R175W	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	302		FAD; shared with dimeric partner.	R -> Q (in IBDD; complete loss of activity).		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				0	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)		CCTCAATGTCCGGAAGCAGTT	0.612													T	134131231	C	T	134131231	3	4	198	1	0	0	0	0	1	0	0	0	110	643	23	1	934	1	ACAD8	11	134131231	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	26331	134131231	875285	875	109964											
CCDC77	84318	broad.mit.edu	37	chr12	520943	520943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccaaacgtggtgttgcCgtcagtggtcccaccaagag	12	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:520943C>T	uc001qig.2	+	4	249	c.69C>T	c.(67-69)GCC>GCT	p.A23A	CCDC77_uc009zdk.2_5'UTR|CCDC77_uc010sdp.1_5'UTR|CCDC77_uc010sdq.1_5'UTR	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	23						centrosome				ovary(1)	1	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)			GTGGTGTTGCCGTCAGTGGTC	0.468													T	520943	C	T	520943	2	4	198	1	0	0	0	0	0	0	0	1	2851	639	23	1		1	CCDC77	12	520943	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08		520943	133330952	876	109965											
ERC1	23085	broad.mit.edu	37	chr12	1137726	1137726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacagtacagagttgtacaGgaggaaaaccaggtaagttc	12	6	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:1137726G>T	uc001qjb.2	+	2	898	c.657G>T	c.(655-657)CAG>CAT	p.Q219H	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.Q219H|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.Q219H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	219	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTTGTACAGGAGGAAAACC	0.408													T	1137726	G	T	1137726	3	4	198	1	0	0	0	0	1	0	0	0	5210	991	35	5	659	5	ERC1	12	1137726	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	616783	1137726	132714169	877	109966											
FGF6	2251	broad.mit.edu	37	chr12	4553334	4553334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttactgttcatggcaaCgaagagggcacttctcactc	8	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:4553334C>T	uc001qmr.1	-	2	459	c.415G>A	c.(415-417)GTT>ATT	p.V139I		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	139					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTCATGGCAACGAAGAGGGCA	0.512													T	4553334	C	T	4553334	3	4	198	1	0	0	0	0	1	0	0	0	5856	536	19	1	219	1	FGF6	12	4553334	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3415608	4553334	129298561	878	109967											
KCNA1	3736	broad.mit.edu	37	chr12	5021140	5021140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatgacaaggacttcaCgggcaccgtccaccgcatcg	12	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:5021140C>T	uc001qnh.2	+	2	1701	c.596C>T	c.(595-597)ACG>ATG	p.T199M		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	199					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGGACTTCACGGGCACCGTC	0.542													T	5021140	C	T	5021140	3	4	198	1	0	0	0	0	1	0	0	0	8001	536	19	1	598	1	KCNA1	12	5021140	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	467806	5021140	128830755	879	109968											
IFFO1	25900	broad.mit.edu	37	chr12	6664650	6664652	+	In_Frame_Del	DEL	GGA	GGA	-													gccgacgaggaataggtggtGgaggtggaggtggaggacga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:6664650_6664652delGGA	uc001qpd.1	-	1	578_580	c.544_546delTCC	c.(544-546)TCCdel	p.S182del	IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_In_Frame_Del_p.S182del|IFFO1_uc001qpf.1_In_Frame_Del_p.S182del|IFFO1_uc001qpc.1_In_Frame_Del_p.S182del	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	182	Poly-Ser.					intermediate filament					0						AATAGGTGGTGGAGGTGGAGGTG	0.547													-	6664652	GGA	-	6664650	7	5	198	1	0	1	0	1	0	0	0	0	7510	1335	47	0	1185	0	IFFO1	12	6664650	In_Frame_Del	DEL	GGA	TCGA-CG-5733-01A-11D-1600-08	1643510	6664650	127187245	880	109969											
LPCAT3	10162	broad.mit.edu	37	chr12	7087667	7087667	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcaaaatgcatactccTtcctgagagggaatagctca	8	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:7087667T>G	uc001qsi.2	-	9	990	c.876A>C	c.(874-876)GAA>GAC	p.E292D	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.E186D|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.E150D	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	292	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1						TGCATACTCCTTCCTGAGAGG	0.488													G	7087667	T	G	7087667	3	3	198	1	0	0	0	0	1	0	0	0	8912	1606	56	5	603	5	LPCAT3	12	7087667	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	423017	7087667	126764228	881	109970											
RBP5	83758	broad.mit.edu	37	chr12	7277310	7277310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacaccaggtgctcctccTcccaggttactatggtctat	7	15	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:7277310T>C	uc001qsq.2	-	3	364	c.269A>G	c.(268-270)GAG>GGG	p.E90G		NM_031491	NP_113679	P82980	RET5_HUMAN	retinol binding protein 5, cellular	90						cytoplasm	retinal binding|retinol binding|transporter activity			ovary(1)	1					Vitamin A(DB00162)	GTGCTCCTCCTCCCAGGTTAC	0.552													C	7277310	T	C	7277310	3	2	198	1	0	0	0	0	1	0	0	0	13159	1551	54	3	146	3	RBP5	12	7277310	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	189643	7277310	126574585	882	109971											
CLSTN3	9746	broad.mit.edu	37	chr12	7310180	7310180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcatccattcccttcacCgccgcgtctcaggggccggc	11	18	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:7310180C>T	uc001qsr.2	+	17	2901	c.2623C>T	c.(2623-2625)CGC>TGC	p.R875C	CLSTN3_uc001qss.2_Missense_Mutation_p.R887C|CLSTN3_uc001qst.2_Missense_Mutation_p.R283C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	875	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						TTCCCTTCACCGCCGCGTCTC	0.637													T	7310180	C	T	7310180	3	4	198	1	0	0	0	0	1	0	0	0	3563	652	23	1	2689	1	CLSTN3	12	7310180	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	32870	7310180	126541715	883	109972											
NECAP1	25977	broad.mit.edu	37	chr12	8242847	8242847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtattgctgtggagacgGtgacagattctagccgctac	13	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:8242847G>A	uc001qtx.2	+	3	331	c.253G>A	c.(253-255)GTG>ATG	p.V85M	NECAP1_uc001qty.2_Translation_Start_Site	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	85					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		TGTGGAGACGGTGACAGATTC	0.448													A	8242847	G	A	8242847	3	1	198	1	0	0	0	0	1	0	0	0	10307	1261	44	4	263	4	NECAP1	12	8242847	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	932667	8242847	125609048	884	109973											
LOH12CR1	118426	broad.mit.edu	37	chr12	12514140	12514140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtaactttattttcagTgactccttcaccagccaagc	6	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12514140T>C	uc001ral.2	+	2	425	c.59T>C	c.(58-60)GTG>GCG	p.V20A	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	20										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TTATTTTCAGTGACTCCTTCA	0.433													C	12514140	T	C	12514140	3	2	198	1	0	0	0	0	1	0	0	0	8891	1710	59	3	65	3	LOH12CR1	12	12514140	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4271293	12514140	121337755	885	109974											
DUSP16	80824	broad.mit.edu	37	chr12	12630724	12630724	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgtcctgctgcctcTgaggtagcagagtcggcaca	13	12	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12630724T>C	uc001rao.1	-	7	1673	c.1041A>G	c.(1039-1041)TCA>TCG	p.S347S	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.S199S	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	347					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				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTGCTGCCTCTGAGGTAGCAG	0.532													C	12630724	T	C	12630724	2	2	198	1	0	0	0	0	0	0	0	1	4816	1567	55	3		3	DUSP16	12	12630724	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	116584	12630724	121221171	886	109975											
DDX47	51202	broad.mit.edu	37	chr12	12974263	12974263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctagttcttaccccgacTcgggagctggcctttcagat	10	14	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12974263T>C	uc001rav.2	+	6	901	c.303T>C	c.(301-303)ACT>ACC	p.T101T	DDX47_uc009zhw.1_Silent_p.T101T|DDX47_uc001rax.2_Silent_p.T101T|DDX47_uc001ray.2_Silent_p.T101T|DDX47_uc010shn.1_Silent_p.T101T	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	101	Helicase ATP-binding.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTACCCCGACTCGGGAGCTGG	0.547													C	12974263	T	C	12974263	2	2	198	1	0	0	0	0	0	0	0	1	4365	1538	54	3		3	DDX47	12	12974263	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	343539	12974263	120877632	887	109976											
DDX47	51202	broad.mit.edu	37	chr12	12974623	12974623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgattcaatgtctcaAtctttggcccttgcaaaaaa	7	8	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12974623A>G	uc001rav.2	+	7	1003	c.405A>G	c.(403-405)CAA>CAG	p.Q135Q	DDX47_uc009zhw.1_Silent_p.Q135Q|DDX47_uc001rax.2_Silent_p.Q135Q|DDX47_uc001ray.2_Silent_p.Q135Q|DDX47_uc010shn.1_3'UTR	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	135	Helicase ATP-binding.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAATGTCTCAATCTTTGGCCC	0.363													G	12974623	A	G	12974623	2	3	198	1	0	0	0	0	0	0	0	1	4365	98	4	3		3	DDX47	12	12974623	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	360	12974623	120877272	888	109977											
ERP27	121506	broad.mit.edu	37	chr12	15091448	15091448	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggggcagcttccattgtccCtctcctgctcctgctccaac	8	18	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:15091448C>A	uc001rco.2	-	1	16	c.-5G>T	c.(-7--3)GAGGG>GATGG			NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor							endoplasmic reticulum lumen				breast(1)	1						TCCATTGTCCCTCTCCTGCTC	0.493													A	15091448	C	A	15091448	1	1	198	1	0	0	0	0	0	0	0	0	5241	696	24	5		5	ERP27	12	15091448	Translation_Start_Site	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2116825	15091448	118760447	889	109978											
TM7SF3	51768	broad.mit.edu	37	chr12	27135795	27135795	+	Splice_Site	DEL	A	A	-													ctttggaagacactcttcctAaaaaataatgaaaatttagt					rs34653193	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:27135794_27135794TA>T	uc010sjl.2	-	7	1107	c.869_splice	c.e7-1	p.G290_splice		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	290						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)					ACACTCTTCCTAAAAAATAAT	0.318													-	27135795	A	-	27135795	8	5	198	1	0	1	0	1	0	0	1	0	15972	377	13	0		0	TM7SF3	12	27135795	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	12044347	27135795	106716100	890	109979											
STK38L	23012	broad.mit.edu	37	chr12	27455095	27455097	+	In_Frame_Del	DEL	GAA	GAA	-													agaaattagaagtggccatgGaagaagaaggattagcagat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:27455094_27455096GGAA>G	uc001rhr.3	+	2	358_360	c.159_161GGAA>G	c.(157-162)atggaa>atGa	p.E56del	STK38L_uc010sjm.2_In_Frame_Del_p.E4del	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	56					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin 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)					AAGTGGCCATGGAAGAAGAAGGA	0.291													-	27455097	GAA	-	27455095	7	5	198	1	0	1	0	1	0	0	0	0	15303	1175	41	0	166	0	STK38L	12	27455095	In_Frame_Del	DEL	GAA	TCGA-CG-5733-01A-11D-1600-08	319300	27455095	106396800	891	109980											
TSPAN11	441631	broad.mit.edu	37	chr12	31136068	31136068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgggggcagtgggcatcGgggtggcctgcctgcaggtg	20	8	0	0	rs140179345	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:31136068G>A	uc010sju.1	+	7	1065	c.685G>A	c.(685-687)GGG>AGG	p.G229R	TSPAN11_uc001rjp.2_Missense_Mutation_p.G229R|TSPAN11_uc010sjv.1_Missense_Mutation_p.G219R	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	229	Helical; (Potential).					integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGTGGGCATCGGGGTGGCCTG	0.632													A	31136068	G	A	31136068	3	1	198	1	0	0	0	0	1	0	0	0	16632	1116	39	1	707	1	TSPAN11	12	31136068	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3680973	31136068	102715827	892	109981											
SYT10	341359	broad.mit.edu	37	chr12	33535371	33535371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatggcctcattgtacacaGggtttagagtgtttttcttt	9	6	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:33535371G>T	uc001rll.1	-	5	1580	c.1283C>A	c.(1282-1284)CCT>CAT	p.P428H	SYT10_uc009zju.1_Missense_Mutation_p.P238H	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	428	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTGTACACAGGGTTTAGAGT	0.413													T	33535371	G	T	33535371	3	4	198	1	0	0	0	0	1	0	0	0	15463	1000	35	5	300	5	SYT10	12	33535371	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2399303	33535371	100316524	893	109982											
GXYLT1	283464	broad.mit.edu	37	chr12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A													aatatcatcaactggtcgtaINSaaaaaaggatatcagtgtcg					rs78939583		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327													A	42499817	-	A	42499816	7	5	198	1	0	1	1	0	0	0	0	0	6903	372	13	0	670	0	GXYLT1	12	42499816	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	8964445	42499816	91352079	894	109983											
PUS7L	83448	broad.mit.edu	37	chr12	44139909	44139909	+	Frame_Shift_Del	DEL	T	T	-													tttgcagaatcatttatttgTttttttaaatttctaatgac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:44139908_44139908GT>G	uc001rns.4	-	3	1284	c.1204_1204AC>C	c.(1204-1206)caafs	p.Q402fs	PUS7L_uc001rnq.4_Frame_Shift_Del_p.Q402fs|PUS7L_uc001rnr.4_Frame_Shift_Del_p.Q402fs|PUS7L_uc009zkb.3_Frame_Shift_Del_p.Q89fs	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	402					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			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)		TCATTTATTTGTTTTTTTAAA	0.318													-	44139909	T	-	44139909	7	5	198	1	0	1	0	1	0	0	0	0	12834	1722	60	0	926	0	PUS7L	12	44139909	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	1640093	44139909	89711986	895	109984											
ARID2	196528	broad.mit.edu	37	chr12	46211518	46211518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatgattataataaattgGtgctttcactgttatctgga	7	5	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:46211518G>T	uc001ros.1	+	5	484	c.484G>T	c.(484-486)GTG>TTG	p.V162L	ARID2_uc001ror.2_Missense_Mutation_p.V162L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	162					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		TAATAAATTGGTGCTTTCACT	0.348													T	46211518	G	T	46211518	3	4	198	1	0	0	0	0	1	0	0	0	915	1261	44	5	502	5	ARID2	12	46211518	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2071609	46211518	87640377	896	109985											
ARID2	196528	broad.mit.edu	37	chr12	46215214	46215214	+	Frame_Shift_Del	DEL	T	T	-													gttttttagctttaggatccTtttccactgtatttggagaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:46215213_46215213CT>C	uc001ros.1	+	5	648	c.648_648CT>C	c.(646-648)tccfs	p.S216fs	ARID2_uc001ror.3_Frame_Shift_Del_p.S216fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	216					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)		CTTTAGGATCCTTTTCCACTG	0.259			"N, S, F"		hepatocellular carcinoma								-	46215214	T	-	46215214	7	5	198	1	0	1	0	1	0	0	0	0	915	1609	56	0	671	0	ARID2	12	46215214	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	3696	46215214	87636681	897	109986											
SLC38A2	54407	broad.mit.edu	37	chr12	46761057	46761057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgctatcatacctccttcAttggcagtcttcaaaaggag	7	10	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:46761057A>G	uc001rpg.2	-	5	821	c.381T>C	c.(379-381)AAT>AAC	p.N127N	SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.N27N	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	127	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	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)		TACCTCCTTCATTGGCAGTCT	0.333													G	46761057	A	G	46761057	2	3	198	1	0	0	0	0	0	0	0	1	14604	214	8	3		3	SLC38A2	12	46761057	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	545843	46761057	87090838	898	109987											
FAM113B	91523	broad.mit.edu	37	chr12	47630075	47630075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtccccgtggcccctataCgccctggggacagcggcctc	12	18	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:47630075C>T	uc001rpn.2	+	4	1960	c.1229C>T	c.(1228-1230)ACG>ATG	p.T410M	FAM113B_uc001rpq.2_Missense_Mutation_p.T410M	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	410	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					GGCCCCTATACGCCCTGGGGA	0.592													T	47630075	C	T	47630075	3	4	198	1	0	0	0	0	1	0	0	0	5402	536	19	1	1231	1	FAM113B	12	47630075	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	869018	47630075	86221820	899	109988											
MLL2	8085	broad.mit.edu	37	chr12	49445526	49445527	+	Frame_Shift_Ins	INS	-	-	G													taggcgcgatacctcaggtgINSggggggacataggtgattct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:49445525_49445526T>TG	uc001rta.4	-	9	1940_1941	c.1940_1941A>CA	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACAT	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49445527	-	G	49445526	7	5	198	1	0	1	1	0	0	0	0	0	9621	1348	47	0	14853	0	MLL2	12	49445526	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1815451	49445526	84406369	900	109989											
NCKAP5L	57701	broad.mit.edu	37	chr12	50186659	50186659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtgggggatccagccGcggtggcttggtcttaggaa	17	10	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:50186659G>A	uc009zlk.2	-	11	3653	c.3451C>T	c.(3451-3453)CGG>TGG	p.R1151W	NCKAP5L_uc001rvc.3_Missense_Mutation_p.R355W|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R744W	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1147	Pro-rich.									central_nervous_system(1)	1						GGATCCAGCCGCGGTGGCTTG	0.647													A	50186659	G	A	50186659	3	1	198	1	0	0	0	0	1	0	0	0	10224	1086	38	1	565	1	NCKAP5L	12	50186659	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	741133	50186659	83665236	901	109990											
LIMA1	51474	broad.mit.edu	37	chr12	50615953	50615953	+	Frame_Shift_Del	DEL	T	T	-													ttctcctagacaattttccaTttttttactttctgttgagt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:50615952_50615952AT>A	uc001rwj.4	-	3	656	c.482_482AT>T	c.(481-483)atgfs	p.M161fs	LIMA1_uc001rwh.4_Frame_Shift_Del_p.M1fs|LIMA1_uc001rwi.4_Frame_Shift_Del_p.M1fs|LIMA1_uc001rwk.4_Frame_Shift_Del_p.M161fs|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	161					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	p.M161fs*11(2)		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						ACAATTTTCCATTTTTTTACT	0.423													-	50615953	T	-	50615953	7	5	198	1	0	1	0	1	0	0	0	0	8796	1493	52	0	1833	0	LIMA1	12	50615953	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	429294	50615953	83235942	902	109991											
SLC4A8	9498	broad.mit.edu	37	chr12	51856144	51856144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgagatgatctcctggcGgggattgatgagttcctaga	15	7	1	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:51856144G>A	uc001rys.1	+	10	1330	c.1152G>A	c.(1150-1152)GCG>GCA	p.A384A	SLC4A8_uc010sni.1_Silent_p.A331A|SLC4A8_uc001rym.2_Silent_p.A331A|SLC4A8_uc001ryn.2_Silent_p.A331A|SLC4A8_uc001ryo.2_Silent_p.A331A|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.1_Silent_p.A411A|SLC4A8_uc001ryq.3_Silent_p.A384A|SLC4A8_uc001ryr.2_Silent_p.A384A|SLC4A8_uc010snk.1_Silent_p.A331A	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	384	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATCTCCTGGCGGGGATTGATG	0.458													A	51856144	G	A	51856144	2	1	198	1	0	0	0	0	0	0	0	1	14659	1103	39	1		1	SLC4A8	12	51856144	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1240191	51856144	81995751	903	109992											
ACVR1B	91	broad.mit.edu	37	chr12	52379121	52379121	+	Frame_Shift_Del	DEL	G	G	-													attgccccgaatcagagggtGgggaccaaacggtaggaggg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52379120_52379120TG>T	uc010snn.2	+	6	1324	c.1247_1247TG>T	c.(1246-1248)gtgfs	p.V416fs	ACVR1B_uc001rzl.3_Frame_Shift_Del_p.V375fs|ACVR1B_uc001rzm.3_Frame_Shift_Del_p.V375fs|ACVR1B_uc001rzn.3_Frame_Shift_Del_p.V375fs|ACVR1B_uc021qya.1_Frame_Shift_Del_p.V323fs	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	375	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATCAGAGGGTGGGGACCAAA	0.557													-	52379121	G	-	52379121	7	5	198	1	0	1	0	1	0	0	0	0	221	1335	47	0	1274	0	ACVR1B	12	52379121	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	522977	52379121	81472774	904	109993											
ACVR1B	91	broad.mit.edu	37	chr12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttccattgaggaaatgCgaaaggttgtatgtgatcag	11	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52385715C>T	uc001rzn.2	+	8	1372	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R444*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R485*	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	444	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488													T	52385715	C	T	52385715	4	4	198	1	0	0	0	0	0	1	0	0	221	760	27	1	1487	1	ACVR1B	12	52385715	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6594	52385715	81466180	905	109994											
C12orf44	60673	broad.mit.edu	37	chr12	52470862	52470862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacgtgtttgacacaggctTgcgggacgtgcagccctacc	12	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52470862T>C	uc001rzu.3	+	4	1020	c.545T>C	c.(544-546)TTG>TCG	p.L182S	C12orf44_uc009zmd.2_Missense_Mutation_p.L182S|uc009zme.1_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Atg13-interacting protein	182					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GACACAGGCTTGCGGGACGTG	0.547													C	52470862	T	C	52470862	3	2	198	1	0	0	0	0	1	0	0	0	1690	1821	63	3	551	3	C12orf44	12	52470862	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	85147	52470862	81381033	906	109995											
KRT6A	3853	broad.mit.edu	37	chr12	52881626	52881626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgctggaactgaagccacCtccaacgccaagaccactgc	8	16	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52881626C>A	uc001sam.2	-	9	1782	c.1573G>T	c.(1573-1575)GGT>TGT	p.G525C		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	525	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCCACCTCCAACGCCA	0.617													A	52881626	C	A	52881626	3	1	198	1	0	0	0	0	1	0	0	0	8480	681	24	5	125	5	KRT6A	12	52881626	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	410764	52881626	80970269	907	109996											
KRT79	338785	broad.mit.edu	37	chr12	53227574	53227574	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcttggcccaccttgtcGatgaaggaggcgaacttgtt	12	11	0	1	rs151245582		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:53227574G>A	uc001sbb.2	-	1	504	c.471C>T	c.(469-471)ATC>ATT	p.I157I		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	157	Rod.|Coil 1A.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						CCACCTTGTCGATGAAGGAGG	0.602													A	53227574	G	A	53227574	2	1	198	1	0	0	0	0	0	0	0	1	8492	1048	37	1		1	KRT79	12	53227574	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	345948	53227574	80624321	908	109997											
CSAD	51380	broad.mit.edu	37	chr12	53565712	53565712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcccaccagggcccgCagtttcctcagcacctcctc	7	21	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:53565712C>T	uc001sby.2	-	6	531	c.405G>A	c.(403-405)CTG>CTA	p.L135L	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Silent_p.L162L|CSAD_uc001sbz.2_Silent_p.L135L|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Silent_p.L135L	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	135					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCAGGGCCCGCAGTTTCCTCA	0.557									Hereditary_Prostate_Cancer				T	53565712	C	T	53565712	2	4	198	1	0	0	0	0	0	0	0	1	3925	697	25	2		2	CSAD	12	53565712	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	338138	53565712	80286183	909	109998											
HOXC10	3226	broad.mit.edu	37	chr12	54379619	54379619	+	Frame_Shift_Del	DEL	G	G	-													catctggaatcgcctcagctGgggggcaaagtgagtttccc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:54379618_54379618TG>T	uc001sen.3	+	0	673	c.575_575TG>T	c.(574-576)ctgfs	p.L192fs		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	192					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						TCGCCTCAGCTGGGGGGCAAA	0.632													-	54379619	G	-	54379619	7	5	198	1	0	1	0	1	0	0	0	0	7309	1335	47	0	578	0	HOXC10	12	54379619	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	813907	54379619	79472276	910	109999											
ITGA5	3678	broad.mit.edu	37	chr12	54812816	54812816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatccgaagaaggagcccGggggccccgagagtactgct	15	11	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:54812816G>A	uc001sga.2	-	1	235	c.167C>T	c.(166-168)CCG>CTG	p.P56L	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	56	Extracellular (Potential).|FG-GAP 1.				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			ovary(2)	2						GAAGGAGCCCGGGGGCCCCGA	0.562													A	54812816	G	A	54812816	3	1	198	1	0	0	0	0	1	0	0	0	7879	1116	39	1	3102	1	ITGA5	12	54812816	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	433197	54812816	79039079	911	110000											
OR6C70	390327	broad.mit.edu	37	chr12	55863619	55863619	+	Frame_Shift_Del	DEL	A	A	-													tgtaacccccaagaatatgtAaaaaaacaactgagatatgc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:55863619delA	uc010spn.1	-	1	304	c.304delT	c.(304-306)TACfs	p.Y102fs		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AAGAATATGTAAAAAAACAAC	0.393													-	55863619	A	-	55863619	7	5	198	1	0	1	0	1	0	0	0	0	11197	362	13	0	636	0	OR6C70	12	55863619	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	1050803	55863619	77988276	912	110001											
DNAJC14	85406	broad.mit.edu	37	chr12	56222358	56222358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtatttcagggtccaCggagggtcctaaagtcctga	13	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56222358C>T	uc001shx.1	-	2	289	c.85G>A	c.(85-87)GTG>ATG	p.V29M	DNAJC14_uc001shu.1_Missense_Mutation_p.V29M|DNAJC14_uc009zob.1_Missense_Mutation_p.V29M|DNAJC14_uc001shy.1_Missense_Mutation_p.V29M	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	29					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TCAGGGTCCACGGAGGGTCCT	0.592													T	56222358	C	T	56222358	3	4	198	1	0	0	0	0	1	0	0	0	4633	536	19	1	2047	1	DNAJC14	12	56222358	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	358739	56222358	77629537	913	110002											
SILV	6490	broad.mit.edu	37	chr12	56355192	56355192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaatagagaaggaggcAtttgcaccaatcagtgtagg	13	6	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56355192A>G	uc001sip.2	-	3	274	c.243T>C	c.(241-243)AAT>AAC	p.N81N	SILV_uc001siq.2_Silent_p.N81N|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Silent_p.N81N	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	81					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						AGAAGGAGGCATTTGCACCAA	0.498													G	56355192	A	G	56355192	2	3	198	1	0	0	0	0	0	0	0	1	14322	214	8	3		3	SILV	12	56355192	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	132834	56355192	77496703	914	110003											
ESYT1	23344	broad.mit.edu	37	chr12	56527633	56527633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccatcttagttgtctaCctggatcgggcccaggatct	11	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56527633C>T	uc001sjq.2	+	13	1499	c.1449C>T	c.(1447-1449)TAC>TAT	p.Y483Y	ESYT1_uc001sjr.2_Silent_p.Y483Y	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	483	C2 2.					integral to membrane				ovary(4)|skin(1)	5						TAGTTGTCTACCTGGATCGGG	0.557													T	56527633	C	T	56527633	2	4	198	1	0	0	0	0	0	0	0	1	5264	518	18	4		4	ESYT1	12	56527633	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	172441	56527633	77324262	915	110004											
PAN2	9924	broad.mit.edu	37	chr12	56717366	56717366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatatctggcagatggcggAtgttgcgggtctgaatctga	15	6	3	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56717366A>G	uc001skx.2	-	15	2574	c.2201T>C	c.(2200-2202)ATC>ACC	p.I734T	PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.I733T|PAN2_uc001sky.2_Missense_Mutation_p.I730T	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	734					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			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CAGATGGCGGATGTTGCGGGT	0.483													G	56717366	A	G	56717366	3	3	198	1	0	0	0	0	1	0	0	0	11414	333	12	3	1455	3	PAN2	12	56717366	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	189733	56717366	77134529	916	110005											
GLS2	27165	broad.mit.edu	37	chr12	56868363	56868363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagagaagtcatacatgcCgcaggaatgcatgaggctga	13	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56868363C>T	uc001slj.2	-	12	1468	c.1189G>A	c.(1189-1191)GGC>AGC	p.G397S	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.G132S|GLS2_uc009zot.2_Missense_Mutation_p.G58S	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	397					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCATACATGCCGCAGGAATGC	0.567													T	56868363	C	T	56868363	3	4	198	1	0	0	0	0	1	0	0	0	6464	652	23	1	647	1	GLS2	12	56868363	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	150997	56868363	76983532	917	110006											
BAZ2A	11176	broad.mit.edu	37	chr12	57009170	57009170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggatgccgttgagtgGgtattgtccccccgagaact	12	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57009170G>T	uc001slq.1	-	3	558	c.364C>A	c.(364-366)CCA>ACA	p.P122T	BAZ2A_uc001slp.1_Missense_Mutation_p.P120T|BAZ2A_uc010sqr.1_Missense_Mutation_p.P122T|BAZ2A_uc009zow.1_Missense_Mutation_p.P120T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	122					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				0						CCGTTGAGTGGGTATTGTCCC	0.577													T	57009170	G	T	57009170	3	4	198	1	0	0	0	0	1	0	0	0	1331	1232	43	5	5461	5	BAZ2A	12	57009170	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	140807	57009170	76842725	918	110007											
LRP1	4035	broad.mit.edu	37	chr12	57600317	57600317	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atccgcagcctgttccccggCcacccccattcggcttacga	8	19	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57600317C>G	uc001snd.2	+	76	12118	c.11652C>G	c.(11650-11652)GGC>GGG	p.G3884G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3884	Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTTCCCCGGCCACCCCCATT	0.587													G	57600317	C	G	57600317	2	3	198	1	0	0	0	0	0	0	0	1	8951	726	26	5		5	LRP1	12	57600317	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	591147	57600317	76251578	919	110008											
GLI1	2735	broad.mit.edu	37	chr12	57858503	57858503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaagttgaccaagaagCgggcactgtccatctcacct	9	13	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57858503C>T	uc001snx.2	+	4	319	c.241C>T	c.(241-243)CGG>TGG	p.R81W	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	81					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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GACCAAGAAGCGGGCACTGTC	0.582													T	57858503	C	T	57858503	3	4	198	1	0	0	0	0	1	0	0	0	6437	759	27	1	251	1	GLI1	12	57858503	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	258186	57858503	75993392	920	110009											
GLI1	2735	broad.mit.edu	37	chr12	57864125	57864125	+	Frame_Shift_Del	DEL	C	C	-													actgtgtcccgccgcgtgggCcccccagtctctcttgaacg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57864124_57864124GC>G	uc001snx.3	+	11	1695	c.1601_1601GC>G	c.(1600-1602)ggcfs	p.G534fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.G493fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.G406fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	534					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)			CGCCGCGTGGGCCCCCCAGTC	0.607													-	57864125	C	-	57864125	7	5	198	1	0	1	0	1	0	0	0	0	6437	726	26	0	1644	0	GLI1	12	57864125	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	5622	57864125	75987770	921	110010											
KIF5A	3798	broad.mit.edu	37	chr12	57957459	57957459	+	Frame_Shift_Del	DEL	A	A	-													atggacagacatcctcagggAaaacacataccatggaggtg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57957458_57957458GA>G	uc001sor.1	+	2	481	c.273_273GA>G	c.(271-273)gggfs	p.G91fs	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	91	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						CATCCTCAGGGAAAACACATA	0.498													-	57957459	A	-	57957459	7	5	198	1	0	1	0	1	0	0	0	0	8305	247	9	0	284	0	KIF5A	12	57957459	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	93334	57957459	75894436	922	110011											
AVIL	10677	broad.mit.edu	37	chr12	58204896	58204896	+	Frame_Shift_Del	DEL	C	C	-													gcttcatcccagaggcgacaCccccctgcttgtagctaagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:58204895_58204895AC>A	uc001sqj.2	-	3	383	c.354_354GT>T	c.(352-354)ggtfs	p.G118fs	AVIL_uc009zqe.2_Frame_Shift_Del_p.G111fs|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Frame_Shift_Del_p.G95fs|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	118	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAGAGGCGACACCCCCCTGCT	0.512													-	58204896	C	-	58204896	7	5	198	1	0	1	0	1	0	0	0	0	1227	507	18	0	2170	0	AVIL	12	58204896	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	247437	58204896	75646999	923	110012											
GRIP1	23426	broad.mit.edu	37	chr12	66788074	66788074	+	Frame_Shift_Del	DEL	C	C	-													gaaattgtgatgccaaggggCcccccgtagcgtttaagctc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:66788073_66788073GC>G	uc001stk.3	-	15	2129	c.1888_1888GC>C	c.(1888-1890)cccfs	p.P630fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.P574fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.P412fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.P630fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.P522fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	682	PDZ 5.				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)		ATGCCAAGGGGCCCCCCGTAG	0.408													-	66788074	C	-	66788074	7	5	198	1	0	1	0	1	0	0	0	0	6787	726	26	0	1379	0	GRIP1	12	66788074	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	8583178	66788074	67063821	924	110013											
CCT2	10576	broad.mit.edu	37	chr12	69980100	69980101	+	Frame_Shift_Del	DEL	AG	AG	-													tttaaggcaggagctgatgaAgagagagcagagacagctcg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:69980099_69980100AAG>A	uc001svb.1	+	1	147_148	c.53_54AAG>A	c.(52-54)gaafs	p.E18fs	CCT2_uc010stl.1_5'UTR|MIR3913-1_uc021ram.1_5'Flank	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	18					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|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)			GGAGCTGATGAAGAGAGAGCAG	0.465											OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	69980101	AG	-	69980100	7	5	198	1	0	1	0	1	0	0	0	0	2953	69	3	0	60	0	CCT2	12	69980100	Frame_Shift_Del	DEL	AG	TCGA-CG-5733-01A-11D-1600-08	3192026	69980100	63871795	925	110014											
RAB3IP	117177	broad.mit.edu	37	chr12	70150275	70150276	+	Frame_Shift_Del	DEL	AG	AG	-													agaaaggacaactataatgcAgagagagagtttttacaggg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:70150274_70150275CAG>C	uc001svp.3	+	2	836_837	c.389_390CAG>C	c.(388-390)gcafs	p.A130fs	RAB3IP_uc021rao.1_Frame_Shift_Del_p.A114fs|RAB3IP_uc001svm.3_Frame_Shift_Del_p.A114fs|RAB3IP_uc001svn.3_Frame_Shift_Del_p.A114fs|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Frame_Shift_Del_p.A130fs|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	130					Golgi to plasma membrane transport|cilium assembly|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)			AACTATAATGCAGAGAGAGAGT	0.431													-	70150276	AG	-	70150275	7	5	198	1	0	1	0	1	0	0	0	0	12938	175	7	0	400	0	RAB3IP	12	70150275	Frame_Shift_Del	DEL	AG	TCGA-CG-5733-01A-11D-1600-08	170175	70150275	63701620	926	110015											
TRHDE	29953	broad.mit.edu	37	chr12	72667121	72667121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacgcttcccgagtggCggtggagaaagtgcagctgg	17	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:72667121C>T	uc001sxa.2	+	1	593	c.563C>T	c.(562-564)GCG>GTG	p.A188V	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	188	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TCCCGAGTGGCGGTGGAGAAA	0.627													T	72667121	C	T	72667121	3	4	198	1	0	0	0	0	1	0	0	0	16476	768	27	1	565	1	TRHDE	12	72667121	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2516846	72667121	61184774	927	110016											
ATP2B1	490	broad.mit.edu	37	chr12	90035958	90035958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattatccccttctggaggcTgataaaaagaaaggcccaat	8	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:90035958T>C	uc001tbh.2	-	2	564	c.383A>G	c.(382-384)CAG>CGG	p.Q128R	ATP2B1_uc001tbg.2_Missense_Mutation_p.Q128R	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	128	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTCTGGAGGCTGATAAAAAGA	0.343													C	90035958	T	C	90035958	3	2	198	1	0	0	0	0	1	0	0	0	1139	1580	55	3	3513	3	ATP2B1	12	90035958	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	17368837	90035958	43815937	928	110017											
USP44	84101	broad.mit.edu	37	chr12	95927734	95927734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgatggcacttaatgtaCgtcgtagtaacttcaggtct	9	7	2	1	rs144639311		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:95927734C>T	uc001teg.2	-	2	443	c.299G>A	c.(298-300)CGT>CAT	p.R100H	USP44_uc001teh.2_Missense_Mutation_p.R100H|USP44_uc009zte.2_Missense_Mutation_p.R97H	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	100					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			lung(1)|breast(1)|central_nervous_system(1)	3						ACTTAATGTACGTCGTAGTAA	0.388													T	95927734	C	T	95927734	3	4	198	1	0	0	0	0	1	0	0	0	17072	536	19	1	1859	1	USP44	12	95927734	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5891776	95927734	37924161	929	110018											
GAS2L3	283431	broad.mit.edu	37	chr12	101017470	101017470	+	Frame_Shift_Del	DEL	A	A	-													acaaaaaattttagcatttcAaaaaggagtttctaatgaaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:101017469_101017469CA>C	uc001thu.3	+	9	1112	c.886_886CA>C	c.(886-888)caafs	p.Q296fs	GAS2L3_uc009zty.3_Frame_Shift_Del_p.Q296fs|GAS2L3_uc001thv.3_Frame_Shift_Del_p.Q192fs	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	296					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						TTTAGCATTTCAAAAAGGAGT	0.393													-	101017470	A	-	101017470	7	5	198	1	0	1	0	1	0	0	0	0	6248	130	5	0	917	0	GAS2L3	12	101017470	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	5089736	101017470	32834425	930	110019											
UTP20	27340	broad.mit.edu	37	chr12	101693522	101693522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaacagtttccagtattggAccatcttttatctataatta	5	8	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:101693522A>G	uc001tia.1	+	13	1649	c.1493A>G	c.(1492-1494)GAC>GGC	p.D498G		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	498					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			ovary(2)|breast(2)	4						CCAGTATTGGACCATCTTTTA	0.338													G	101693522	A	G	101693522	3	3	198	1	0	0	0	0	1	0	0	0	17096	275	10	3	1543	3	UTP20	12	101693522	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	676052	101693522	32158373	931	110020											
APPL2	55198	broad.mit.edu	37	chr12	105570797	105570798	+	Splice_Site	INS	-	-	G													acactggtaagttcaaactgINSgggggtggaaaaaaaggcaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:105570796_105570797T>TG	uc010swu.1	-	19	1908	c.1690_splice	c.e19-1	p.F564_splice	APPL2_uc010swt.2_Splice_Site_p.F515_splice|APPL2_uc001tlf.1_Splice_Site_p.F558_splice|APPL2_uc001tlg.1_Splice_Site_p.F312_splice	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	558	PID.				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						AAGTTCAAACTGGGGGGTGGAA	0.401													G	105570798	-	G	105570797	8	5	198	1	0	1	1	0	0	0	1	0	818	1363	47	0		0	APPL2	12	105570797	Splice_Site	INS	-	TCGA-CG-5733-01A-11D-1600-08	3877275	105570797	28281098	932	110021											
SELPLG	6404	broad.mit.edu	37	chr12	109017078	109017078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcaccacagtgcacaCgaagaagatagtggccacca	10	14	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:109017078C>T	uc001tni.2	-	2	1166	c.1006G>A	c.(1006-1008)GTG>ATG	p.V336M	SELPLG_uc001tnh.2_Missense_Mutation_p.V326M|SELPLG_uc010sxe.1_Missense_Mutation_p.V352M	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	336	Helical; (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						ACAGTGCACACGAAGAAGATA	0.592													T	109017078	C	T	109017078	3	4	198	1	0	0	0	0	1	0	0	0	14020	536	19	1	236	1	SELPLG	12	109017078	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3446281	109017078	24834817	933	110022											
MVK	4598	broad.mit.edu	37	chr12	110032921	110032921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggtgaccagggcccGcggacttcacagcaagctga	13	14	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:110032921G>A	uc001toy.3	+	10	1158	c.974G>A	c.(973-975)CGC>CAC	p.R325H	MVK_uc009zvk.2_Missense_Mutation_p.R325H|MVK_uc010sxr.1_Missense_Mutation_p.R273H|MVK_uc001toz.3_Missense_Mutation_p.R131H|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	325					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						ACCAGGGCCCGCGGACTTCAC	0.647													A	110032921	G	A	110032921	3	1	198	1	0	0	0	0	1	0	0	0	9995	1087	38	1	1008	1	MVK	12	110032921	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1015843	110032921	23818974	934	110023											
MYL2	4633	broad.mit.edu	37	chr12	111348947	111348947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccaagttgccagtcacGtcaggggggaaggcggcgaa	16	9	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:111348947G>A	uc001try.3	-	7	506	c.435C>T	c.(433-435)GAC>GAT	p.D145D	MYL2_uc001trx.3_Silent_p.D126D	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	145	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TGCCAGTCACGTCAGGGGGGA	0.612													A	111348947	G	A	111348947	2	1	198	1	0	0	0	0	0	0	0	1	10047	1136	40	1		1	MYL2	12	111348947	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1316026	111348947	22502948	935	110024											
ATXN2	6311	broad.mit.edu	37	chr12	111907981	111907981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatactaaaccaggctgggCgtgtgttggtggtgccatca	14	8	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:111907981C>T	uc001tsj.2	-	20	3409	c.3247G>A	c.(3247-3249)GCC>ACC	p.A1083T	ATXN2_uc001tsh.2_Missense_Mutation_p.A818T|ATXN2_uc001tsi.2_Missense_Mutation_p.A794T|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.A271T|ATXN2_uc001tsl.1_Missense_Mutation_p.A102T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1083	Pro-rich.				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			ovary(1)|breast(1)	2						CCAGGCTGGGCGTGTGTTGGT	0.443													T	111907981	C	T	111907981	3	4	198	1	0	0	0	0	1	0	0	0	1211	768	27	1	718	1	ATXN2	12	111907981	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	559034	111907981	21943914	936	110025											
ATXN2	6311	broad.mit.edu	37	chr12	111990178	111990178	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccattatttcttcacgtttCggccccgaactggattctgt	7	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:111990178C>T	uc001tsj.2	-	5	1119	c.957G>A	c.(955-957)CCG>CCA	p.P319P	ATXN2_uc001tsh.2_Silent_p.P54P|ATXN2_uc001tsi.2_Silent_p.P30P|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.P54P	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	319					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			ovary(1)|breast(1)	2						CTTCACGTTTCGGCCCCGAAC	0.373													T	111990178	C	T	111990178	2	4	198	1	0	0	0	0	0	0	0	1	1211	871	31	1		1	ATXN2	12	111990178	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	82197	111990178	21861717	937	110026											
C12orf51	283450	broad.mit.edu	37	chr12	112674831	112674831	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagcactctgtggctcGggcaagatggttagtgagaa	14	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:112674831G>A	uc009zwc.2	-	28	4114	c.4096C>T	c.(4096-4098)CGA>TGA	p.R1366*		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TCTGTGGCTCGGGCAAGATGG	0.537													A	112674831	G	A	112674831	4	1	198	1	0	0	0	0	0	1	0	0	1696	1124	39	1	8062	1	C12orf51	12	112674831	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	684653	112674831	21177064	938	110027											
PTPN11	5781	broad.mit.edu	37	chr12	112926888	112926888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggtctcagaggtcagGgatggtccagacagaagcac	16	9	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:112926888G>T	uc001ttx.2	+	13	1888	c.1508G>T	c.(1507-1509)GGG>GTG	p.G503V		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	507	Tyrosine-protein phosphatase.		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).		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	p.G503A(14)|p.G503V(8)|p.G503E(2)|p.G503L(1)|p.G503R(1)		haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CAGAGGTCAGGGATGGTCCAG	0.468			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				T	112926888	G	T	112926888	3	4	198	1	0	0	0	0	1	0	0	0	12780	1232	43	5	1558	5	PTPN11	12	112926888	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	252057	112926888	20925007	939	110028											
SUDS3	64426	broad.mit.edu	37	chr12	118841254	118841254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacttgcctgcaacaccCgcggaatctccagcccagag	10	16	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:118841254C>T	uc001twz.2	+	10	874	c.735C>T	c.(733-735)CCC>CCT	p.P245P		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	245					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCAACACCCGCGGAATCTC	0.463													T	118841254	C	T	118841254	2	4	198	1	0	0	0	0	0	0	0	1	15366	639	23	1		1	SUDS3	12	118841254	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5914366	118841254	15010641	940	110029											
GPR109A	338442	broad.mit.edu	37	chr12	123187766	123187766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgacaatgaagtcatctCggaacacacagcagttcttc	7	12	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:123187766C>T	uc001ucx.1	-	1	139	c.65G>A	c.(64-66)CGA>CAA	p.R22Q	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	22	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GAAGTCATCTCGGAACACACA	0.532													T	123187766	C	T	123187766	3	4	198	1	0	0	0	0	1	0	0	0	6625	884	31	1	1030	1	GPR109A	12	123187766	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4346512	123187766	10664129	941	110030											
DNAH10	196385	broad.mit.edu	37	chr12	124315113	124315113	+	Frame_Shift_Del	DEL	A	A	-													gcattggaaagaacttatggAaaaaacgtctgtcttttttg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:124315112_124315112GA>G	uc001uft.4	+	24	4082	c.4057_4057GA>G	c.(4057-4059)gaafs	p.E1353fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1353	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)		AGAACTTATGGAAAAAACGTC	0.363													-	124315113	A	-	124315113	7	5	198	1	0	1	0	1	0	0	0	0	4598	246	9	0	4156	0	DNAH10	12	124315113	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	1127347	124315113	9536782	942	110031											
NCOR2	9612	broad.mit.edu	37	chr12	124950800	124950800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacgggcttctcaggctcGggcggcttggcagcctcctc	14	15	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:124950800G>A	uc010tba.1	-	5	741	c.624C>T	c.(622-624)CCC>CCT	p.P208P	NCOR2_uc010tay.1_Silent_p.P208P|NCOR2_uc010taz.1_Silent_p.P208P|NCOR2_uc010tbb.1_Silent_p.P208P|NCOR2_uc010tbc.1_Silent_p.P208P|NCOR2_uc001ugj.1_Silent_p.P208P|NCOR2_uc001ugk.1_Silent_p.P208P	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	208	Potential.				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			skin(3)|ovary(1)	4	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)		TCTCAGGCTCGGGCGGCTTGG	0.677													A	124950800	G	A	124950800	2	1	198	1	0	0	0	0	0	0	0	1	10236	1103	39	1		1	NCOR2	12	124950800	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	635687	124950800	8901095	943	110032											
TMEM132D	121256	broad.mit.edu	37	chr12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-													ctcctcccggcaaccaccgtGggggggctgaaccagctgga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:130184704_130184704TG>T	uc009zyl.1	-	1	947	c.619_619CA>A	c.(619-621)acgfs	p.T207fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	207						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)		GCAACCACCGTGGGGGGGCTG	0.711													-	130184705	G	-	130184705	7	5	198	1	0	1	0	1	0	0	0	0	16044	1335	47	0	2713	0	TMEM132D	12	130184705	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	5233905	130184705	3667190	944	110033											
EP400	57634	broad.mit.edu	37	chr12	132474611	132474611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggatagccgcctccacgGcccgggagatagagtgcttt	15	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:132474611G>A	uc001ujn.2	+	7	2547	c.2512G>A	c.(2512-2514)GCC>ACC	p.A838T	EP400_uc001ujl.2_Missense_Mutation_p.A837T|EP400_uc001ujm.2_Missense_Mutation_p.A838T|EP400_uc001ujj.1_Missense_Mutation_p.A801T|EP400_uc001ujk.2_Missense_Mutation_p.A874T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	874					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CGCCTCCACGGCCCGGGAGAT	0.567													A	132474611	G	A	132474611	3	1	198	1	0	0	0	0	1	0	0	0	5149	1203	42	2	2535	2	EP400	12	132474611	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2289906	132474611	1377284	945	110034											
DDX51	317781	broad.mit.edu	37	chr12	132624231	132624231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgtaccgaggaaccagCggctgcagcagcttgctgga	13	13	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:132624231C>T	uc001ujy.3	-	14	1962	c.1923G>A	c.(1921-1923)CCG>CCA	p.P641P		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	641					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	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)		GAGGAACCAGCGGCTGCAGCA	0.607													T	132624231	C	T	132624231	2	4	198	1	0	0	0	0	0	0	0	1	4369	755	27	1		1	DDX51	12	132624231	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	149620	132624231	1227664	946	110035											
GOLGA3	2802	broad.mit.edu	37	chr12	133367828	133367829	+	Frame_Shift_Ins	INS	-	-	T													tggagaaactgttcctttatINStttttgcatttgctttttca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:133367827_133367828A>AT	uc001ukz.1	-	11	3080_3081	c.2521_2522T>AT	c.(2521-2523)atafs	p.I841fs	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Frame_Shift_Ins_p.I841fs|GOLGA3_uc001ulb.3_Frame_Shift_Ins_p.I841fs	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	841					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)		CTGTTCCTTTATTTTTTGCATT	0.421													T	133367829	-	T	133367828	7	5	198	1	0	1	1	0	0	0	0	0	6554	1493	52	0	2165	0	GOLGA3	12	133367828	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	743597	133367828	484067	947	110036											
SACS	26278	broad.mit.edu	37	chr13	23908934	23908934	+	Frame_Shift_Del	DEL	A	A	-													tcatcctgtagtaaattgtcAaaaaatggtctagttttatt					rs144616826		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:23908933_23908933CA>C	uc001uon.2	-	9	9671	c.9082_9082TG>G	c.(9082-9084)gacfs	p.D3028fs	SACS_uc001uoo.2_Frame_Shift_Del_p.D2881fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3028					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone 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)		AGTAAATTGTCAAAAAATGGT	0.353													-	23908934	A	-	23908934	7	5	198	1	0	1	0	1	0	0	0	0	13804	127	5	0	4662	0	SACS	13	23908934	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08		23908934	91260944	948	110037											
RNF17	56163	broad.mit.edu	37	chr13	25399806	25399806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaatcgaggaattctAtaaaagtgaagatggagaaa	10	3	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:25399806A>G	uc001upr.2	+	16	2182	c.2141A>G	c.(2140-2142)TAT>TGT	p.Y714C	RNF17_uc010tdd.1_Missense_Mutation_p.Y573C|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Y714C|RNF17_uc001ups.2_Missense_Mutation_p.Y653C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	714					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		GAGGAATTCTATAAAAGTGAA	0.343													G	25399806	A	G	25399806	3	3	198	1	0	0	0	0	1	0	0	0	13461	449	16	3	2203	3	RNF17	13	25399806	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1490872	25399806	89770072	949	110038											
FAM123A	219287	broad.mit.edu	37	chr13	25744142	25744142	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcccgccttcttcccgCtgctcgagctgtcttcctct	9	17	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:25744142C>G	uc001uqb.2	-	1	1716	c.1616G>C	c.(1615-1617)AGC>ACC	p.S539T	FAM123A_uc001uqa.2_Missense_Mutation_p.S420T|FAM123A_uc001uqc.2_Missense_Mutation_p.S420T	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	539										ovary(2)|large_intestine(1)|lung(1)	4		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)		CTTCTTCCCGCTGCTCGAGCT	0.652													G	25744142	C	G	25744142	3	3	198	1	0	0	0	0	1	0	0	0	5422	797	28	5	403	5	FAM123A	13	25744142	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	344336	25744142	89425736	950	110039											
SLC46A3	283537	broad.mit.edu	37	chr13	29284952	29284952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtagaacagagaatggCacaatagtgaaaaggaacgg	13	6	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:29284952C>T	uc001usi.2	-	3	2059	c.1089G>A	c.(1087-1089)GTG>GTA	p.V363V	SLC46A3_uc001usg.2_Silent_p.V288V|SLC46A3_uc001usj.2_Silent_p.V363V|SLC46A3_uc001ush.2_Silent_p.V363V|SLC46A3_uc001usk.2_3'UTR	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	363	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAGAATGGCACAATAGTGA	0.388													T	29284952	C	T	29284952	2	4	198	1	0	0	0	0	0	0	0	1	14646	697	25	2		2	SLC46A3	13	29284952	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3540810	29284952	85884926	951	110040											
MTUS2	23281	broad.mit.edu	37	chr13	29600876	29600876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaccatgcctcttccccacGaagagaaggcagcaggtggt	12	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:29600876G>A	uc001usl.3	+	1	2129	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	681	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.E691K(1)			0						TCTTCCCCACGAAGAGAAGGC	0.582													A	29600876	G	A	29600876	3	1	198	1	0	0	0	0	1	0	0	0	9966	1059	37	1	2073	1	MTUS2	13	29600876	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	315924	29600876	85569002	952	110041											
MTUS2	23281	broad.mit.edu	37	chr13	30072657	30072657	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgagcaagaaaagaagattCttgagctggaaaagctggtg	13	5	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:30072657C>T	uc001usl.3	+	12	3869	c.3811C>T	c.(3811-3813)CTT>TTT	p.L1271F	MTUS2_uc001usm.3_Missense_Mutation_p.L240F|MTUS2_uc010aau.2_Missense_Mutation_p.L150F|MTUS2_uc010tdq.1_Missense_Mutation_p.L23F	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1261	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AAAGAAGATTCTTGAGCTGGA	0.443													T	30072657	C	T	30072657	3	4	198	1	0	0	0	0	1	0	0	0	9966	913	32	4	3915	4	MTUS2	13	30072657	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	471781	30072657	85097221	953	110042											
BRCA2	675	broad.mit.edu	37	chr13	32906658	32906658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaatctaaaaaccaagTgaaagaaaaatactcatttg	5	5	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:32906658T>C	uc001uub.1	+	10	1270	c.1043T>C	c.(1042-1044)GTG>GCG	p.V348A	BRCA2_uc001uua.1_Missense_Mutation_p.V225A	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	348					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		AAAAACCAAGTGAAAGAAAAA	0.328			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32906658	T	C	32906658	3	2	198	1	0	0	0	0	1	0	0	0	1499	1696	59	3	1077	3	BRCA2	13	32906658	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2834001	32906658	82263220	954	110043											
KL	9365	broad.mit.edu	37	chr13	33591317	33591317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacgtggtggcctggcacGgctacgccaccgggcgcctg	15	16	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:33591317G>A	uc001uus.2	+	1	747	c.739G>A	c.(739-741)GGC>AGC	p.G247S	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	247	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|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			large_intestine(1)|ovary(1)|skin(1)	3	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)		GGCCTGGCACGGCTACGCCAC	0.692													A	33591317	G	A	33591317	3	1	198	1	0	0	0	0	1	0	0	0	8331	1116	39	1	741	1	KL	13	33591317	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	684659	33591317	81578561	955	110044											
KL	9365	broad.mit.edu	37	chr13	33638206	33638206	+	Frame_Shift_Del	DEL	T	T	-													accgtgtgtactgagtgcagTttttttcacacccgaaagtc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:33638205_33638205GT>G	uc001uus.3	+	4	2929	c.2921_2921GT>G	c.(2920-2922)agtfs	p.S974fs		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	974					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)		ACTGAGTGCAGTTTTTTTCAC	0.378													-	33638206	T	-	33638206	7	5	198	1	0	1	0	1	0	0	0	0	8331	1722	60	0	2940	0	KL	13	33638206	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	46889	33638206	81531672	956	110045											
NBEA	26960	broad.mit.edu	37	chr13	36026370	36026370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaaattgacaaccttgCaggtaaattttaaaatatat	6	4	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:36026370C>T	uc001uvb.2	+	40	6652	c.6446C>T	c.(6445-6447)GCA>GTA	p.A2149V	NBEA_uc010abi.2_Missense_Mutation_p.A805V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2149						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		GACAACCTTGCAGGtaaattt	0.348													T	36026370	C	T	36026370	3	4	198	1	0	0	0	0	1	0	0	0	10187	710	25	2	6604	2	NBEA	13	36026370	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2388164	36026370	79143508	957	110046											
DCLK1	9201	broad.mit.edu	37	chr13	36401891	36401891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcattctggatcatgtgctCctgtccaaaggaaaagttat	8	8	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:36401891C>T	uc001uvf.2	-	10	1521	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	DCLK1_uc001uve.3_Missense_Mutation_p.E123K|DCLK1_uc010teh.1_Missense_Mutation_p.E123K|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	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			stomach(6)|ovary(2)|skin(1)	9		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													T	36401891	C	T	36401891	3	4	198	1	0	0	0	0	1	0	0	0	4291	869	30	4	937	4	DCLK1	13	36401891	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	375521	36401891	78767987	958	110047											
LMO7	4008	broad.mit.edu	37	chr13	76432063	76432063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcccgatcagctggacGgccaaccgccatgtgatgta	11	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:76432063G>A	uc001vjv.2	+	27	4832	c.4072G>A	c.(4072-4074)GGC>AGC	p.G1358S	LMO7_uc010thv.1_Missense_Mutation_p.R1345Q|LMO7_uc010thw.1_Missense_Mutation_p.R1271Q|LMO7_uc001vjx.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	Error:Variant_position_missing_in_Q8WWI1_after_alignment						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCAGCTGGACGGCCAACCGCC	0.438													A	76432063	G	A	76432063	3	1	198	1	0	0	0	0	1	0	0	0	8855	1116	39	1	5162	1	LMO7	13	76432063	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	40030172	76432063	38737815	959	110048											
SLITRK1	114798	broad.mit.edu	37	chr13	84454725	84454725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggatctttgtacctccGtttggagcagaccctggtgt	12	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:84454725G>A	uc001vlk.2	-	1	1804	c.918C>T	c.(916-918)AAC>AAT	p.N306N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	306	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTACCTCCGTTTGGAGCAG	0.542													A	84454725	G	A	84454725	2	1	198	1	0	0	0	0	0	0	0	1	14742	1136	40	1		1	SLITRK1	13	84454725	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	8022662	84454725	30715153	960	110049											
UGGT2	55757	broad.mit.edu	37	chr13	96579593	96579593	+	Splice_Site	DEL	A	A	-													gcgatcatttaatgtgccctAaaaaaacaaaaatgttattt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:96579592_96579592TA>T	uc001vmt.3	-	18	2148	c.1978_splice	c.e18-1	p.G660_splice		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	660					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	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						TAATGTGCCCTAAAAAAACAA	0.289													-	96579593	A	-	96579593	8	5	198	1	0	1	0	1	0	0	1	0	16939	377	13	0		0	UGGT2	13	96579593	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	12124868	96579593	18590285	961	110050											
IPO5	3843	broad.mit.edu	37	chr13	98673368	98673368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgccaaacgtctggccaAtgtcgttcgccaagtacagg	11	11	1	0	rs145600638		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:98673368A>G	uc001vne.2	+	28	3422	c.3242A>G	c.(3241-3243)AAT>AGT	p.N1081S		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	1063					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			ovary(1)|lung(1)|skin(1)	3						CGTCTGGCCAATGTCGTTCGC	0.403													G	98673368	A	G	98673368	3	3	198	1	0	0	0	0	1	0	0	0	7796	101	4	3	3344	3	IPO5	13	98673368	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2093775	98673368	16496510	962	110051											
RNF113B	140432	broad.mit.edu	37	chr13	98829144	98829144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctccttctcggtgtccTgctcgaagtcagcggtggcc	14	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:98829144T>C	uc001vnk.2	-	1	378	c.347A>G	c.(346-348)CAG>CGG	p.Q116R	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	116							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTCGGTGTCCTGCTCGAAGTC	0.677													C	98829144	T	C	98829144	3	2	198	1	0	0	0	0	1	0	0	0	13428	1580	55	3	629	3	RNF113B	13	98829144	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	155776	98829144	16340734	963	110052											
FARP1	10160	broad.mit.edu	37	chr13	99092237	99092237	+	Frame_Shift_Del	DEL	G	G	-													tgaggagagcgaagacgagtGgggggtgccccactgcctga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:99092236_99092236TG>T	uc001vnh.3	+	22	2787	c.2548_2548TG>T	c.(2548-2550)tggfs	p.W850fs	FARP1_uc001vnj.3_Frame_Shift_Del_p.W819fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	819	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			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)			CGAAGACGAGTGGGGGGTGCC	0.617													-	99092237	G	-	99092237	7	5	198	1	0	1	0	1	0	0	0	0	5676	1357	47	0	2761	0	FARP1	13	99092237	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	263093	99092237	16077641	964	110053											
PCCA	5095	broad.mit.edu	37	chr13	101077918	101077918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcgaaactaaatgtgaCcagcacgtggaacctggctt	12	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:101077918C>T	uc001voo.2	+	20	1816	c.1778C>T	c.(1777-1779)ACC>ATC	p.T593I	PCCA_uc010aga.2_Missense_Mutation_p.T567I|PCCA_uc010tiz.1_Missense_Mutation_p.T593I|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	593					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CTAAATGTGACCAGCACGTGG	0.473													T	101077918	C	T	101077918	3	4	198	1	0	0	0	0	1	0	0	0	11504	507	18	4	1856	4	PCCA	13	101077918	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1985681	101077918	14091960	965	110054											
NALCN	259232	broad.mit.edu	37	chr13	101717877	101717877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcccacgcagtagccGcagcaggaacttgacgcgga	12	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:101717877G>A	uc001vox.1	-	40	4672	c.4483C>T	c.(4483-4485)CGG>TGG	p.R1495W		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1495	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGCAGTAGCCGCAGCAGGAAC	0.567													A	101717877	G	A	101717877	3	1	198	1	0	0	0	0	1	0	0	0	10148	1086	38	1	753	1	NALCN	13	101717877	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	639959	101717877	13452001	966	110055											
NALCN	259232	broad.mit.edu	37	chr13	102047698	102047698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgatggcacagatgcGcagcaaagagtgaacccact	12	10	0	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:102047698G>A	uc001vox.1	-	3	316	c.127C>T	c.(127-129)CGC>TGC	p.R43C	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43C|NALCN_uc001vpa.2_Missense_Mutation_p.R43C	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	43	Helical; Name=S1 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCACAGATGCGCAGCAAAGAG	0.438													A	102047698	G	A	102047698	3	1	198	1	0	0	0	0	1	0	0	0	10148	1087	38	1	5257	1	NALCN	13	102047698	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	329821	102047698	13122180	967	110056											
ITGBL1	9358	broad.mit.edu	37	chr13	102359214	102359215	+	Frame_Shift_Del	DEL	TG	TG	-													ggaagaacaaagcaagaatcTgtgtgaatcagcagatggca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:102359213_102359214CTG>C	uc001vpb.3	+	8	1459_1460	c.1240_1241CTG>C	c.(1240-1242)ctgfs	p.L414fs	ITGBL1_uc010agb.3_Frame_Shift_Del_p.L365fs|ITGBL1_uc001vpc.4_Frame_Shift_Del_p.L273fs	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	414	Cysteine-rich tandem repeats.				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)					AAGCAAGAATCTGTGTGAATCA	0.49													-	102359215	TG	-	102359214	7	5	198	1	0	1	0	1	0	0	0	0	7902	1580	55	0	1275	0	ITGBL1	13	102359214	Frame_Shift_Del	DEL	TG	TCGA-CG-5733-01A-11D-1600-08	311516	102359214	12810664	968	110057											
SOX1	6656	broad.mit.edu	37	chr13	112722290	112722290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcgacgaggccaagcgGctgcgcgcgctgcacatgaa	13	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:112722290G>A	uc001vsb.1	+	1	378	c.318G>A	c.(316-318)CGG>CGA	p.R106R		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	106	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	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)		AGGCCAAGCGGCTGCGCGCGC	0.602													A	112722290	G	A	112722290	2	1	198	1	0	0	0	0	0	0	0	1	14940	1190	42	2		2	SOX1	13	112722290	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	10363076	112722290	2447588	969	110058											
MCF2L	23263	broad.mit.edu	37	chr13	113744018	113744018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtcagctcagcgccactgAcaaagccccccgaaaagggc	10	16	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:113744018A>G	uc001vsu.2	+	26	3122	c.3100A>G	c.(3100-3102)ACA>GCA	p.T1034A	MCF2L_uc001vsq.2_Missense_Mutation_p.T1034A|MCF2L_uc010tjr.1_Missense_Mutation_p.T977A|MCF2L_uc001vsr.2_Missense_Mutation_p.T981A|MCF2L_uc001vss.3_Missense_Mutation_p.T975A|MCF2L_uc010tjs.1_Missense_Mutation_p.T975A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	1007					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			ovary(1)|kidney(1)	2	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)				AGCGCCACTGACAAAGCCCCC	0.577													G	113744018	A	G	113744018	3	3	198	1	0	0	0	0	1	0	0	0	9379	275	10	3	3297	3	MCF2L	13	113744018	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1021728	113744018	1425860	970	110059											
RASA3	22821	broad.mit.edu	37	chr13	114751101	114751101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactggcttccatatttcGtcttcttgaacttgtccctc	5	14	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:114751101G>A	uc001vui.2	-	23	2545	c.2414C>T	c.(2413-2415)ACG>ATG	p.T805M	RASA3_uc010tkk.1_Missense_Mutation_p.T773M|RASA3_uc001vuj.2_Missense_Mutation_p.T422M	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	805					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			lung(3)|skin(1)	4	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)			TCCATATTTCGTCTTCTTGAA	0.607													A	114751101	G	A	114751101	3	1	198	1	0	0	0	0	1	0	0	0	13062	1145	40	1	98	1	RASA3	13	114751101	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1007083	114751101	418777	971	110060											
TEP1	7011	broad.mit.edu	37	chr14	20846338	20846338	+	Frame_Shift_Del	DEL	C	C	-													cagccggcccacagccacaaCccccccaggcacattgaagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:20846337_20846337AC>A	uc001vxe.3	-	38	5607	c.5567_5567GT>T	c.(5566-5568)gttfs	p.V1856fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.V1199fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.V1748fs|TEP1_uc010tlh.1_Frame_Shift_Del_p.V194fs	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1856					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)		CACAGCCACAACCCCCCCAGG	0.627													-	20846338	C	-	20846338	7	5	198	1	0	1	0	1	0	0	0	0	15756	507	18	0	2385	0	TEP1	14	20846338	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08		20846338	86503202	972	110061											
TEP1	7011	broad.mit.edu	37	chr14	20871978	20871978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaactgggcaaatttgtcCgtcatggcagtacggagaca	11	9	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:20871978C>T	uc001vxe.2	-	6	1138	c.1098G>A	c.(1096-1098)ACG>ACA	p.T366T	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	366	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		CAAATTTGTCCGTCATGGCAG	0.587													T	20871978	C	T	20871978	2	4	198	1	0	0	0	0	0	0	0	1	15756	639	23	1		1	TEP1	14	20871978	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	25640	20871978	86477562	973	110062											
SLC22A17	51310	broad.mit.edu	37	chr14	23821303	23821303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctggctgctagggcagCgctggcgacgctgacgccgc	18	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:23821303C>T	uc001wjl.2	-	1	177	c.121G>A	c.(121-123)GCT>ACT	p.A41T	SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.A41T|SLC22A17_uc010akl.1_Missense_Mutation_p.A41T	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	41					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCTAGGGCAGCGCTGGCGACG	0.697													T	23821303	C	T	23821303	3	4	198	1	0	0	0	0	1	0	0	0	14448	768	27	1	1531	1	SLC22A17	14	23821303	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2949325	23821303	83528237	974	110063											
MYH7	4625	broad.mit.edu	37	chr14	23884861	23884861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgcagcagctgcacccGctcactagtctcaatcagct	9	14	3	0	rs121913650		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:23884861G>A	uc001wjx.2	-	35	5240	c.5134C>T	c.(5134-5136)CGG>TGG	p.R1712W		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1712	Potential.		R -> W (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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGCTGCACCCGCTCACTAGTC	0.617													A	23884861	G	A	23884861	3	1	198	1	0	0	0	0	1	0	0	0	10039	1086	38	1	697	1	MYH7	14	23884861	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	63558	23884861	83464679	975	110064											
RIPK3	11035	broad.mit.edu	37	chr14	24805598	24805598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtatatgttaacgagcggtCgccctttaagagaaatagtg	11	6	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:24805598C>T	uc001wpb.2	-	10	1550	c.1340G>A	c.(1339-1341)CGA>CAA	p.R447Q	ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.R247Q|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.R226Q	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	447					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		AACGAGCGGTCGCCCTTTAAG	0.512													T	24805598	C	T	24805598	3	4	198	1	0	0	0	0	1	0	0	0	13382	884	31	1	220	1	RIPK3	14	24805598	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	920737	24805598	82543942	976	110065											
NFATC4	4776	broad.mit.edu	37	chr14	24842494	24842494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcacaggcaagatggtgGccacggccagctatgaagcc	13	11	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:24842494G>A	uc001wpc.2	+	4	1798	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	NFATC4_uc010tok.1_Missense_Mutation_p.A556T|NFATC4_uc010tol.1_Missense_Mutation_p.A556T|NFATC4_uc010alr.2_Missense_Mutation_p.A556T|NFATC4_uc010als.2_Missense_Mutation_p.A506T|NFATC4_uc010tom.1_Missense_Mutation_p.A506T|NFATC4_uc010ton.1_Missense_Mutation_p.A506T|NFATC4_uc010too.1_Missense_Mutation_p.A506T|NFATC4_uc010alt.2_Missense_Mutation_p.A525T|NFATC4_uc010top.1_Missense_Mutation_p.A525T|NFATC4_uc010toq.1_Missense_Mutation_p.A525T|NFATC4_uc010alu.2_Missense_Mutation_p.A185T|NFATC4_uc010tor.1_Missense_Mutation_p.A493T|NFATC4_uc010tos.1_Missense_Mutation_p.A423T|NFATC4_uc010tot.1_Missense_Mutation_p.A481T|NFATC4_uc010tou.1_Missense_Mutation_p.A423T|NFATC4_uc010tov.1_Missense_Mutation_p.A481T|NFATC4_uc010tow.1_Missense_Mutation_p.A423T|NFATC4_uc010alv.2_Missense_Mutation_p.A481T|NFATC4_uc010tox.1_Missense_Mutation_p.A423T|NFATC4_uc001wpd.2_Missense_Mutation_p.A28T|NFATC4_uc010toy.1_Missense_Mutation_p.A28T|NFATC4_uc010toz.1_Missense_Mutation_p.A28T|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	493	RHD.				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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CAAGATGGTGGCCACGGCCAG	0.547													A	24842494	G	A	24842494	3	1	198	1	0	0	0	0	1	0	0	0	10365	1203	42	2	1684	2	NFATC4	14	24842494	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	36896	24842494	82507046	977	110066											
COCH	1690	broad.mit.edu	37	chr14	31355427	31355427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtttggccctataagGgagagccccaacaagaactt	10	9	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:31355427G>T	uc001wqr.2	+	11	1466	c.1386G>T	c.(1384-1386)AGG>AGT	p.R462S	COCH_uc001wqp.2_Missense_Mutation_p.R462S|COCH_uc001wqq.3_Missense_Mutation_p.R462S|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.R313S	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	462	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	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;0.00645)		GCCCTATAAGGGAGAGCCCCA	0.483													T	31355427	G	T	31355427	3	4	198	1	0	0	0	0	1	0	0	0	3656	1223	43	5	1424	5	COCH	14	31355427	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	6512933	31355427	75994113	978	110067											
NPAS3	64067	broad.mit.edu	37	chr14	34266683	34266683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcctgagtacaaggacaCacccatggacatcgcacagc	8	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:34266683C>T	uc001wru.2	+	11	1386	c.1322C>T	c.(1321-1323)ACA>ATA	p.T441I	NPAS3_uc001wrs.2_Missense_Mutation_p.T428I|NPAS3_uc001wrt.2_Missense_Mutation_p.T409I|NPAS3_uc001wrv.2_Missense_Mutation_p.T411I	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		TACAAGGACACACCCATGGAC	0.527													T	34266683	C	T	34266683	3	4	198	1	0	0	0	0	1	0	0	0	10564	478	17	4	1419	4	NPAS3	14	34266683	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2911256	34266683	73082857	979	110068											
KLHDC2	23588	broad.mit.edu	37	chr14	50249176	50249176	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgtccatcacagagctGtaagtatactaccttcacat	6	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:50249176G>T	uc001wwx.2	+	11	1444	c.1044_splice	c.e11+1	p.A348_splice	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Splice_Site_p.A348_splice|KLHDC2_uc010anp.2_Splice_Site	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2							nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)					TCACAGAGCTGTAAGTATACT	0.368													T	50249176	G	T	50249176	5	4	198	1	0	0	0	0	0	0	1	0	8356	1391	48	5	1087	5	KLHDC2	14	50249176	Splice_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08	15982493	50249176	57100364	980	110069											
TRIM9	114088	broad.mit.edu	37	chr14	51561482	51561482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtccagatagtcatagTcggagaccccggagcccgcg	13	14	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:51561482T>G	uc001wyx.3	-	1	941	c.176A>C	c.(175-177)GAC>GCC	p.D59A	TRIM9_uc001wyy.2_Missense_Mutation_p.D59A|TRIM9_uc001wyz.3_Missense_Mutation_p.D59A	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	59					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					ATAGTCATAGTCGGAGACCCC	0.642													G	51561482	T	G	51561482	3	3	198	1	0	0	0	0	1	0	0	0	16546	1667	58	5	2046	5	TRIM9	14	51561482	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1312306	51561482	55788058	981	110070											
NID2	22795	broad.mit.edu	37	chr14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-													gggcacgtactggtcatcccGgggggtgccaccgtagtgct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:52481918_52481918CG>C	uc001wzo.3	-	14	3338	c.3104_3104CG>G	c.(3103-3105)cggfs	p.R1035fs	NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1035	Thyroglobulin type-1 2.					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)					CTGGTCATCCCGGGGGGTGCC	0.627													-	52481919	G	-	52481919	7	5	198	1	0	1	0	1	0	0	0	0	10415	1115	39	0	1056	0	NID2	14	52481919	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	920437	52481919	54867621	982	110071											
TXNDC16	57544	broad.mit.edu	37	chr14	52948967	52948967	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagtttaactgccacAtcaatataggattgcaaaaa	5	9	2	0	rs143047031		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:52948967A>G	uc001wzs.2	-	14	1742	c.1293T>C	c.(1291-1293)GAT>GAC	p.D431D	TXNDC16_uc010tqu.1_Silent_p.D426D|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	431	Thioredoxin.				cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TAACTGCCACATCAATATAGG	0.323													G	52948967	A	G	52948967	2	3	198	1	0	0	0	0	0	0	0	1	16792	214	8	3		3	TXNDC16	14	52948967	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	467048	52948967	54400573	983	110072											
KTN1	3895	broad.mit.edu	37	chr14	56137475	56137475	+	Frame_Shift_Del	DEL	A	A	-													tgaatggttgcatggatttgAaaaaaaggcaaaagaatgta							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:56137474_56137474GA>G	uc001xcb.3	+	35	3597	c.3295_3295GA>G	c.(3295-3297)gaafs	p.E1099fs	KTN1_uc001xcc.3_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcd.3_Frame_Shift_Del_p.E1076fs|KTN1_uc001xce.3_Frame_Shift_Del_p.E1070fs|KTN1_uc010trb.2_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcf.1_Frame_Shift_Del_p.E1076fs|KTN1_uc010aoq.3_Frame_Shift_Del_p.E365fs|KTN1_uc010trc.2_Frame_Shift_Del_p.E104fs|KTN1_uc001xcg.3_Frame_Shift_Del_p.E60fs	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1099					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCATGGATTTGAAAAAAAGGC	0.318			T	RET	papillary thryoid								-	56137475	A	-	56137475	7	5	198	1	0	1	0	1	0	0	0	0	8585	246	9	0	3430	0	KTN1	14	56137475	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	3188508	56137475	51212065	984	110073											
MUDENG	55745	broad.mit.edu	37	chr14	57747008	57747008	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctagttcacccttgtgtAacttctcttgactctgcaat	5	11	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:57747008A>G	uc001xcv.2	+	3	1243	c.816A>G	c.(814-816)GTA>GTG	p.V272V	MUDENG_uc010tri.1_Silent_p.V26V|MUDENG_uc010trj.1_Silent_p.V169V	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	272	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						ACCCTTGTGTAACTTCTCTTG	0.418													G	57747008	A	G	57747008	2	3	198	1	0	0	0	0	0	0	0	1	9983	349	13	3		3	MUDENG	14	57747008	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1609533	57747008	49602532	985	110074											
RTN1	6252	broad.mit.edu	37	chr14	60213141	60213141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgtaacacgatccttcCccatcttttgatgttgttga	8	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:60213141C>T	uc001xen.1	-	2	509	c.300G>A	c.(298-300)GGG>GGA	p.G100G		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	100					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACGATCCTTCCCCATCTTTTG	0.468													T	60213141	C	T	60213141	2	4	198	1	0	0	0	0	0	0	0	1	13725	610	22	4		4	RTN1	14	60213141	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2466133	60213141	47136399	986	110075											
C14orf135	64430	broad.mit.edu	37	chr14	60582054	60582054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttagagaaattcaaagcgTatatatcattggaattttcc	6	6	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:60582054T>C	uc001xer.3	+	3	1052	c.530T>C	c.(529-531)GTA>GCA	p.V177A	C14orf135_uc001xeq.2_Missense_Mutation_p.V177A|C14orf135_uc010apm.2_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	411						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATTCAAAGCGTATATATCATT	0.363													C	60582054	T	C	60582054	3	2	198	1	0	0	0	0	1	0	0	0	1745	1638	57	3	536	3	C14orf135	14	60582054	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	368913	60582054	46767486	987	110076											
RHOJ	57381	broad.mit.edu	37	chr14	63671636	63671636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcggctgcaggggcaacGacgagaagaagatgttgaag	17	7	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:63671636G>A	uc001xgb.1	+	1	492	c.49G>A	c.(49-51)GAC>AAC	p.D17N		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	17					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CAGGGGCAACGACGAGAAGAA	0.577													A	63671636	G	A	63671636	3	1	198	1	0	0	0	0	1	0	0	0	13341	1058	37	1	51	1	RHOJ	14	63671636	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3089582	63671636	43677904	988	110077											
PPP2R5E	5529	broad.mit.edu	37	chr14	63851161	63851161	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagaaactgaaaacctaCggattccaatgttcttttga	8	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:63851161C>T	uc001xgd.1	-	12	1792	c.1202_splice	c.e12+1	p.P401_splice	PPP2R5E_uc010tsf.1_Splice_Site_p.P325_splice|PPP2R5E_uc010tsg.1_Splice_Site_p.P325_splice|PPP2R5E_uc001xge.2_Splice_Site_p.P401_splice|PPP2R5E_uc010tsh.1_Splice_Site_p.P401_splice|PPP2R5E_uc001xgf.1_Splice_Site	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,						signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGAAAACCTACGGATTCCAAT	0.299													T	63851161	C	T	63851161	5	4	198	1	0	0	0	0	0	0	1	0	12396	550	19	1	212	1	PPP2R5E	14	63851161	Splice_Site	SNP	C	TCGA-CG-5733-01A-11D-1600-08	179525	63851161	43498379	989	110078											
MTHFD1	4522	broad.mit.edu	37	chr14	64867549	64867549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatcaagtcactcagtTgaaggagcaagtacctggtt	10	7	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:64867549T>C	uc001xhb.2	+	2	467	c.80T>C	c.(79-81)TTG>TCG	p.L27S	MTHFD1_uc010aqe.2_Missense_Mutation_p.L83S|MTHFD1_uc010aqf.2_Missense_Mutation_p.L83S	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	27	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				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 (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				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)	GTCACTCAGTTGAAGGAGCAA	0.393													C	64867549	T	C	64867549	3	2	198	1	0	0	0	0	1	0	0	0	9927	1821	63	3	86	3	MTHFD1	14	64867549	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1016388	64867549	42481991	990	110079											
PLEKHG3	26030	broad.mit.edu	37	chr14	65198835	65198835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagacagtggaggagaaacGgaactggactcaccacatca	11	10	2	2	rs138713446	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:65198835G>A	uc001xho.1	+	10	1417	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R327Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R383Q|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	383	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGGAGAAACGGAACTGGACT	0.552													A	65198835	G	A	65198835	3	1	198	1	0	0	0	0	1	0	0	0	12070	1116	39	1	1006	1	PLEKHG3	14	65198835	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	331286	65198835	42150705	991	110080											
SPTB	6710	broad.mit.edu	37	chr14	65260557	65260557	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtggctgatgcggtcctgGatgacctgggggtcacaagg	17	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:65260557G>A	uc001xht.2	-	13	1878	c.1824C>T	c.(1822-1824)ATC>ATT	p.I608I	SPTB_uc001xhr.2_Silent_p.I608I|SPTB_uc001xhs.2_Silent_p.I608I|SPTB_uc001xhu.2_Silent_p.I608I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	608	Spectrin 4.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		TGCGGTCCTGGATGACCTGGG	0.567													A	65260557	G	A	65260557	2	1	198	1	0	0	0	0	0	0	0	1	15117	1164	41	4		4	SPTB	14	65260557	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	61722	65260557	42088983	992	110081											
ZFYVE26	23503	broad.mit.edu	37	chr14	68246963	68246963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaaaacggtacctgtgCttctagaatcatgttcatga	9	9	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:68246963C>T	uc001xka.2	-	23	4808	c.4669G>A	c.(4669-4671)GCA>ACA	p.A1557T	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A1557T	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1557					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGTACCTGTGCTTCTAGAATC	0.498													T	68246963	C	T	68246963	3	4	198	1	0	0	0	0	1	0	0	0	17665	797	28	2	3030	2	ZFYVE26	14	68246963	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2986406	68246963	39102577	993	110082											
EXD2	55218	broad.mit.edu	37	chr14	69695627	69695627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctgcccaagctaatctGtggaggaaaaacactaccaa	8	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:69695627G>A	uc001xkt.2	+	5	712	c.53G>A	c.(52-54)TGT>TAT	p.C18Y	EXD2_uc001xku.2_Translation_Start_Site|EXD2_uc001xkv.2_Missense_Mutation_p.C143Y|EXD2_uc001xkw.2_Missense_Mutation_p.C18Y|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Missense_Mutation_p.C143Y|EXD2_uc010tte.1_Missense_Mutation_p.C143Y|EXD2_uc001xky.2_Missense_Mutation_p.C18Y	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	18					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						AAGCTAATCTGTGGAGGAAAA	0.483													A	69695627	G	A	69695627	3	1	198	1	0	0	0	0	1	0	0	0	5298	1377	48	4	55	4	EXD2	14	69695627	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1448664	69695627	37653913	994	110083											
HEATR4	399671	broad.mit.edu	37	chr14	73985743	73985743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacatgcttcaggaattgcCtgggcactccacttttctgg	9	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:73985743C>A	uc010tub.1	-	5	1516	c.1194G>T	c.(1192-1194)CAG>CAT	p.Q398H	HEATR4_uc010tua.1_Missense_Mutation_p.Q351H	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CAGGAATTGCCTGGGCACTCC	0.468													A	73985743	C	A	73985743	3	1	198	1	0	0	0	0	1	0	0	0	7030	680	24	5	1942	5	HEATR4	14	73985743	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4290116	73985743	33363797	995	110084											
C14orf115	55237	broad.mit.edu	37	chr14	74824432	74824432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctgcccgcttctccGccaagcacttcctgcaggac	10	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:74824432G>A	uc001xpw.3	+	2	1137	c.946G>A	c.(946-948)GCC>ACC	p.A316T		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	316					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CCGCTTCTCCGCCAAGCACTT	0.637													A	74824432	G	A	74824432	3	1	198	1	0	0	0	0	1	0	0	0	1740	1087	38	1	948	1	C14orf115	14	74824432	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	838689	74824432	32525108	996	110085											
LTBP2	4053	broad.mit.edu	37	chr14	74969544	74969544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtagtgcaggtcatcgGgcccggggccatactcatag	14	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:74969544G>A	uc001xqa.2	-	34	5369	c.4982C>T	c.(4981-4983)CCC>CTC	p.P1661L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1661					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGGTCATCGGGCCCGGGGCC	0.637													A	74969544	G	A	74969544	3	1	198	1	0	0	0	0	1	0	0	0	9074	1232	43	4	495	4	LTBP2	14	74969544	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	145112	74969544	32379996	997	110086											
YLPM1	56252	broad.mit.edu	37	chr14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgcgtctagatattcGttctttgctgcaagatgctg	10	8	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:75284986G>A	uc001xqj.3	+	16	6123	c.5999G>A	c.(5998-6000)CGT>CAT	p.R2000H	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R483H	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGATATTCGTTCTTTGCTG	0.348													A	75284986	G	A	75284986	3	1	198	1	0	0	0	0	1	0	0	0	17483	1145	40	1	6061	1	YLPM1	14	75284986	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	315442	75284986	32064554	998	110087											
RPS6KL1	83694	broad.mit.edu	37	chr14	75388057	75388057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtcctcactaacatcgCgctccagggccagccggatc	9	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:75388057C>T	uc010tux.1	-	2	716	c.188G>A	c.(187-189)CGC>CAC	p.R63H	RPS6KL1_uc001xqw.2_Missense_Mutation_p.R63H|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R63H	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	63						ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ACTAACATCGCGCTCCAGGGC	0.612													T	75388057	C	T	75388057	3	4	198	1	0	0	0	0	1	0	0	0	13659	768	27	1	1477	1	RPS6KL1	14	75388057	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	103071	75388057	31961483	999	110088											
C14orf4	64207	broad.mit.edu	37	chr14	77492010	77492010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagaggggtccgctgTtggccatgggggaatccgga	18	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:77492010T>C	uc001xsy.2	-	1	3025	c.2126A>G	c.(2125-2127)AAC>AGC	p.N709S		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	709						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		GGGTCCGCTGTTGGCCATGGG	0.602													C	77492010	T	C	77492010	3	2	198	1	0	0	0	0	1	0	0	0	1773	1725	60	3	268	3	C14orf4	14	77492010	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2103953	77492010	29857530	1000	110089											
SNW1	22938	broad.mit.edu	37	chr14	78197430	78197430	+	Frame_Shift_Del	DEL	T	T	-													ttccttttctttctgagccaTttttctctctacttgggcac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:78197429_78197429AT>A	uc010tvn.1	-	9	962	c.935_935AT>T	c.(934-936)atgfs	p.M312fs	SNW1_uc001xuf.3_Frame_Shift_Del_p.M312fs|SNW1_uc010tvm.2_Frame_Shift_Del_p.M237fs			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	312	SNW.				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)		TTTCTGAGCCATTTTTCTCTC	0.418													-	78197430	T	-	78197430	7	5	198	1	0	1	0	1	0	0	0	0	14879	1493	52	0	696	0	SNW1	14	78197430	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	705420	78197430	29152110	1001	110090											
GALC	2581	broad.mit.edu	37	chr14	88448557	88448557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgtacacaccttaatatAattggcattatatgacctct	5	8	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:88448557A>G	uc001xvt.2	-	6	1012	c.613T>C	c.(613-615)TAT>CAT	p.Y205H	GALC_uc010tvw.1_5'Flank|GALC_uc010tvx.1_Missense_Mutation_p.Y179H|GALC_uc010tvy.1_Missense_Mutation_p.Y182H|GALC_uc010tvz.1_Missense_Mutation_p.Y149H|GALC_uc001xvu.1_Missense_Mutation_p.Y205H	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	205					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						ACCTTAATATAATTGGCATTA	0.289													G	88448557	A	G	88448557	3	3	198	1	0	0	0	0	1	0	0	0	6201	362	13	3	1555	3	GALC	14	88448557	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	10251127	88448557	18900983	1002	110091											
KCNK10	54207	broad.mit.edu	37	chr14	88654340	88654340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttttggacagaacccGtagccaatctccgatcatac	7	12	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:88654340G>A	uc001xwo.2	-	6	1424	c.967C>T	c.(967-969)CGG>TGG	p.R323W	KCNK10_uc001xwm.2_Missense_Mutation_p.R328W|KCNK10_uc001xwn.2_Missense_Mutation_p.R328W	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	323	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R323Q(1)		ovary(2)|skin(2)|pancreas(1)	5						GACAGAACCCGTAGCCAATCT	0.473													A	88654340	G	A	88654340	3	1	198	1	0	0	0	0	1	0	0	0	8059	1144	40	1	657	1	KCNK10	14	88654340	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	205783	88654340	18695200	1003	110092											
ZC3H14	79882	broad.mit.edu	37	chr14	89069238	89069238	+	Frame_Shift_Del	DEL	C	C	-													acgctggatggtgtccccagCcccccaggatacatgtcaga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:89069237_89069237GC>G	uc001xww.3	+	11	1805	c.1580_1580GC>G	c.(1579-1581)agcfs	p.S527fs	ZC3H14_uc010twd.2_Frame_Shift_Del_p.S527fs|ZC3H14_uc010twe.2_Frame_Shift_Del_p.S527fs|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Frame_Shift_Del_p.S72fs|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	527						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGA	0.468													-	89069238	C	-	89069238	7	5	198	1	0	1	0	1	0	0	0	0	17563	738	26	0	2016	0	ZC3H14	14	89069238	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	414898	89069238	18280302	1004	110093											
TTC7B	145567	broad.mit.edu	37	chr14	91282553	91282553	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggccgacagctgcttgacGagctcagggatccgctccca	12	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:91282553G>A	uc001xyp.2	-	1	209	c.87C>T	c.(85-87)CTC>CTT	p.L29L		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	29							binding			ovary(2)	2		Melanoma(154;0.222)				GCTGCTTGACGAGCTCAGGGA	0.483													A	91282553	G	A	91282553	2	1	198	1	0	0	0	0	0	0	0	1	16710	1045	37	1		1	TTC7B	14	91282553	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2213315	91282553	16066987	1005	110094											
CCDC88C	440193	broad.mit.edu	37	chr14	91875074	91875074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggttcacatcattgttgaCgtgcttattgatgcgttgat	10	6	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:91875074C>T	uc010aty.2	-	3	298	c.199G>A	c.(199-201)GTC>ATC	p.V67I	CCDC88C_uc010twk.1_Missense_Mutation_p.V31I|CCDC88C_uc001xzl.3_Missense_Mutation_p.V67I	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	67					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			ovary(3)	3		all_cancers(154;0.0468)				TCATTGTTGACGTGCTTATTG	0.468													T	91875074	C	T	91875074	3	4	198	1	0	0	0	0	1	0	0	0	2865	536	19	1	5999	1	CCDC88C	14	91875074	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	592521	91875074	15474466	1006	110095											
TRIP11	9321	broad.mit.edu	37	chr14	92472698	92472698	+	Frame_Shift_Del	DEL	T	T	-													cttcaagttgatgaactctcTttttttcatcatttagatct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:92472697_92472697CT>C	uc001xzy.3	-	10	1997	c.1623_1623AG>G	c.(1621-1623)aagfs	p.K541fs	TRIP11_uc010auf.2_Frame_Shift_Del_p.K277fs	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	541					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|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)		GATGAACTCTCTTTTTTTCAT	0.308			T	PDGFRB	AML								-	92472698	T	-	92472698	7	5	198	1	0	1	0	1	0	0	0	0	16552	1609	56	0	4361	0	TRIP11	14	92472698	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	597624	92472698	14876842	1007	110096											
C14orf109	26175	broad.mit.edu	37	chr14	93652903	93652904	+	Frame_Shift_Ins	INS	-	-	A													ttgtacaagagctgatcccaINSaaacagtgggctactgtatc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:93652902_93652903C>CA	uc001ybk.4	+	1	380_381	c.282_283C>CA	c.(280-285)cccaaafs	p.P94fs	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Frame_Shift_Ins_p.P132fs|C14orf109_uc021sax.1_Frame_Shift_Ins_p.P94fs	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	126						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GAGCTGATCCCAAAACAGTGGG	0.416													A	93652904	-	A	93652903	7	5	198	1	0	1	1	0	0	0	0	0	1739	131	5	0	403	0	C14orf109	14	93652903	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1180205	93652903	13696637	1008	110097											
SERPINA4	5267	broad.mit.edu	37	chr14	95033560	95033560	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagatgctaatgaggtgGaacaacttgttgcggaagag	14	6	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:95033560G>A	uc001ydk.2	+	3	969	c.903G>A	c.(901-903)TGG>TGA	p.W301*	SERPINA4_uc010avd.2_Nonsense_Mutation_p.W338*|SERPINA4_uc001ydl.2_Nonsense_Mutation_p.W301*	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	301					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		TAATGAGGTGGAACAACTTGT	0.433													A	95033560	G	A	95033560	4	1	198	1	0	0	0	0	0	1	0	0	14091	1183	41	4	909	4	SERPINA4	14	95033560	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1380657	95033560	12315980	1009	110098											
DICER1	23405	broad.mit.edu	37	chr14	95557666	95557666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctttggaacttcaatatCctcttctttctcttcatcct	4	13	5	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:95557666C>T	uc001ydw.2	-	26	5583	c.5401G>A	c.(5401-5403)GAT>AAT	p.D1801N	DICER1_uc010avh.1_Missense_Mutation_p.D699N|DICER1_uc001ydv.2_Missense_Mutation_p.D1791N|DICER1_uc001ydx.2_Missense_Mutation_p.D1801N	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1801	RNase III 2.				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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACTTCAATATCCTCTTCTTTC	0.453			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95557666	C	T	95557666	3	4	198	1	0	0	0	0	1	0	0	0	4521	855	30	4	379	4	DICER1	14	95557666	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	524106	95557666	11791874	1010	110099											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551255	102551260	+	In_Frame_Del	DEL	TTCTTT	TTCTTT	-													ttgtcttccgactctttctcTtctttttctttttcttcttc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:102551255_102551260delTTCTTT	uc001yku.3	-	5	929_934	c.739_744delAAAGAA	c.(739-744)AAAGAAdel	p.KE247del	HSP90AA1_uc001ykv.3_In_Frame_Del_p.KE369del|HSP90AA1_uc001ykw.1_In_Frame_Del_p.KE68del|HSP90AA1_uc001ykx.1_In_Frame_Del_p.KE236del	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	247_248					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			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ACtctttctcttctttttctttttct	0.204													-	102551260	TTCTTT	-	102551255	7	5	198	1	0	1	0	1	0	0	0	0	7401	1606	56	0	1482	0	HSP90AA1	14	102551255	In_Frame_Del	DEL	TTCTTT	TCGA-CG-5733-01A-11D-1600-08	6993589	102551255	4798285	1011	110100											
MAGEL2	54551	broad.mit.edu	37	chr15	23889184	23889184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgtgggcactgtcacCggtgtcaggttcatcctcat	14	12	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:23889184C>T	uc001ywj.3	-	1	1992	c.1897G>A	c.(1897-1899)GGT>AGT	p.G633S		NM_019066	NP_061939			MAGE-like protein 2												0		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)		GCACTGTCACCGGTGTCAGGT	0.582													T	23889184	C	T	23889184	3	4	198	1	0	0	0	0	1	0	0	0	9189	652	23	1	47	1	MAGEL2	15	23889184	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08		23889184	78642208	1012	110101											
OTUD7A	161725	broad.mit.edu	37	chr15	31862339	31862339	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacatgtggcagattggcTgtgtgcacctggcggagctg	15	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:31862339T>G	uc001zfq.2	-	2	306	c.213A>C	c.(211-213)ACA>ACC	p.T71T	OTUD7A_uc001zfr.2_Silent_p.T71T|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Silent_p.T71T	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	71						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		GCAGATTGGCTGTGTGCACCT	0.597													G	31862339	T	G	31862339	2	3	198	1	0	0	0	0	0	0	0	1	11318	1567	55	5		5	OTUD7A	15	31862339	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	7973155	31862339	70669053	1013	110102											
RYR3	6263	broad.mit.edu	37	chr15	33938602	33938602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgtgtctcaaggtgacGcataagacatttggcacaca	9	12	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:33938602G>A	uc001zhi.2	+	29	3886	c.3816G>A	c.(3814-3816)ACG>ACA	p.T1272T	RYR3_uc010bar.2_Silent_p.T1272T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1272	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TCAAGGTGACGCATAAGACAT	0.537													A	33938602	G	A	33938602	2	1	198	1	0	0	0	0	0	0	0	1	13770	1074	38	1		1	RYR3	15	33938602	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2076263	33938602	68592790	1014	110103											
RYR3	6263	broad.mit.edu	37	chr15	34032146	34032146	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccacgttggagaaacagatCtcagtggatgcggatggcaa	14	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:34032146C>A	uc001zhi.2	+	51	7840	c.7770C>A	c.(7768-7770)ATC>ATA	p.I2590I	RYR3_uc010bar.2_Silent_p.I2590I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2590	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		AGAAACAGATCTCAGTGGATG	0.468													A	34032146	C	A	34032146	2	1	198	1	0	0	0	0	0	0	0	1	13770	903	32	5		5	RYR3	15	34032146	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	93544	34032146	68499246	1015	110104											
RYR3	6263	broad.mit.edu	37	chr15	34102805	34102805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgaatatgtgtactccAggcgaccaggagctgatctc	12	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:34102805A>G	uc001zhi.2	+	71	10222	c.10152A>G	c.(10150-10152)CCA>CCG	p.P3384P	RYR3_uc010bar.2_Silent_p.P3379P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3384					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TGTGTACTCCAGGCGACCAGG	0.532													G	34102805	A	G	34102805	2	3	198	1	0	0	0	0	0	0	0	1	13770	175	7	3		3	RYR3	15	34102805	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	70659	34102805	68428587	1016	110105											
GJD2	57369	broad.mit.edu	37	chr15	35044711	35044711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtcactggactgagtccTgccaaaattgggaacactga	11	9	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:35044711T>C	uc001zis.1	-	2	934	c.934A>G	c.(934-936)AGG>GGG	p.R312G	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	312	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		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)		GACTGAGTCCTGCCAAAATTG	0.542													C	35044711	T	C	35044711	3	2	198	1	0	0	0	0	1	0	0	0	6417	1579	55	3	35	3	GJD2	15	35044711	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	941906	35044711	67486681	1017	110106											
DISP2	85455	broad.mit.edu	37	chr15	40661129	40661129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggagctgggcatggcacCtccaggcctccgccgtggtt	15	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:40661129C>A	uc001zlk.1	+	8	2905	c.2816C>A	c.(2815-2817)CCT>CAT	p.P939H		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	939					smoothened signaling pathway	integral to membrane				ovary(2)	2		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)		GGCATGGCACCTCCAGGCCTC	0.602													A	40661129	C	A	40661129	3	1	198	1	0	0	0	0	1	0	0	0	4540	681	24	5	2846	5	DISP2	15	40661129	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5616418	40661129	61870263	1018	110107											
INO80	54617	broad.mit.edu	37	chr15	41384315	41384317	+	In_Frame_Del	DEL	TTC	TTC	-													tcttctctgctgagattgagTtcttcttcatcatcgtcttc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:41384314_41384316GTTC>G	uc001zni.3	-	4	659_661	c.446_448GAAC>C	c.(445-450)gaactc>gCtc	p.149_150EL>A	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	149	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			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						CTGAGATTGAGTTCTTCTTCATC	0.379													-	41384317	TTC	-	41384315	7	5	198	1	0	1	0	1	0	0	0	0	7746	1722	60	0	4351	0	INO80	15	41384315	In_Frame_Del	DEL	TTC	TCGA-CG-5733-01A-11D-1600-08	723186	41384315	61147077	1019	110108											
SPTBN5	51332	broad.mit.edu	37	chr15	42185101	42185101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggggcccaccttggccctGaggaaggccagagctcggct	15	14	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:42185101G>A	uc001zos.2	-	3	603	c.270C>T	c.(268-270)CTC>CTT	p.L90L	uc010bcp.1_RNA	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	125	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		CCTTGGCCCTGAGGAAGGCCA	0.687													A	42185101	G	A	42185101	2	1	198	1	0	0	0	0	0	0	0	1	15121	1277	45	4		4	SPTBN5	15	42185101	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	800786	42185101	60346291	1020	110109											
CAPN3	825	broad.mit.edu	37	chr15	42646646	42646646	+	Frame_Shift_Del	DEL	A	A	-													aaacacaaactacccaacagAaaaatgtaagtataatcttt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:42646646delA	uc010udf.1	+	1	109	c.43delA	c.(43-45)AAAfs	p.K15fs	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Frame_Shift_Del_p.K15fs|CAPN3_uc010udg.1_Frame_Shift_Del_p.K15fs	NM_212465	NP_997630	P20807	CAN3_HUMAN	calpain 3 isoform f	Error:Variant_position_missing_in_P20807_after_alignment					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TACCCAACAGAAAAATGTAAG	0.249													-	42646646	A	-	42646646	7	5	198	1	0	1	0	1	0	0	0	0	2628	247	9	0	45	0	CAPN3	15	42646646	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	461545	42646646	59884746	1021	110110											
DTWD1	56986	broad.mit.edu	37	chr15	49917367	49917367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggtttgaatgaagaatGtctctcaatccacctatatt	6	8	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:49917367G>A	uc001zxq.2	+	3	280	c.3G>A	c.(1-3)ATG>ATA	p.M1I	DTWD1_uc001zxp.3_RNA|DTWD1_uc001zxs.2_Missense_Mutation_p.M1I|DTWD1_uc001zxr.2_5'UTR|DTWD1_uc001zxo.2_Missense_Mutation_p.M1I	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	1											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AATGAAGAATGTCTCTCAATC	0.313													A	49917367	G	A	49917367	3	1	198	1	0	0	0	0	1	0	0	0	4791	1377	48	4	5	4	DTWD1	15	49917367	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7270721	49917367	52614025	1022	110111											
TRPM7	54822	broad.mit.edu	37	chr15	50931674	50931674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccccatggagctattcCgatagtgcaaatctttcgag	8	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:50931674C>T	uc001zyt.3	-	6	871	c.607G>A	c.(607-609)GGA>AGA	p.G203R	TRPM7_uc010bew.1_Missense_Mutation_p.G203R	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	203	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GGAGCTATTCCGATAGTGCAA	0.328													T	50931674	C	T	50931674	3	4	198	1	0	0	0	0	1	0	0	0	16588	661	23	1	5126	1	TRPM7	15	50931674	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1014307	50931674	51599718	1023	110112											
MYO5A	4644	broad.mit.edu	37	chr15	52611494	52611494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaaccctgtgggcttcAccccagacacgccctgaatc	7	17	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:52611494A>G	uc002aby.2	-	38	5166	c.4922T>C	c.(4921-4923)GTG>GCG	p.V1641A	MYO5A_uc002abx.3_Missense_Mutation_p.V1614A|MYO5A_uc010ugd.1_Missense_Mutation_p.V363A	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1641	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTGGGCTTCACCCCAGACAC	0.532													G	52611494	A	G	52611494	3	3	198	1	0	0	0	0	1	0	0	0	10078	159	6	3	661	3	MYO5A	15	52611494	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1679820	52611494	49919898	1024	110113											
VPS13C	54832	broad.mit.edu	37	chr15	62257063	62257063	+	Splice_Site	DEL	A	A	-													taaagatgaaaaggccacctAaaaatgttttaaagagaaaa							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:62257062_62257062TA>T	uc002agz.3	-	31	3143	c.3052_splice	c.e31-1	p.V1018_splice	VPS13C_uc002aha.3_Splice_Site_p.V975_splice|VPS13C_uc002ahb.2_Splice_Site_p.V1018_splice|VPS13C_uc002ahc.2_Splice_Site_p.V975_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1018					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						AAAGGCCACCTAAAAATGTTT	0.373													-	62257063	A	-	62257063	8	5	198	1	0	1	0	1	0	0	1	0	17188	377	13	0		0	VPS13C	15	62257063	Splice_Site	DEL	A	TCGA-CG-5733-01A-11D-1600-08	9645569	62257063	40274329	1025	110114											
FBXL22	283807	broad.mit.edu	37	chr15	63893593	63893593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcacctcggtggggaggacCtgaccactcggagttcgccg	14	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:63893593C>A	uc002amn.2	+	2	448	c.434C>A	c.(433-435)CCT>CAT	p.P145H	uc002amj.2_5'Flank|uc002amk.2_5'Flank|uc002aml.2_5'Flank	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	145											0						TGGGGAGGACCTGACCACTCG	0.726													A	63893593	C	A	63893593	3	1	198	1	0	0	0	0	1	0	0	0	5719	681	24	5	440	5	FBXL22	15	63893593	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1636530	63893593	38637799	1026	110115											
KIF23	9493	broad.mit.edu	37	chr15	69737166	69737166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaacgcaccaccaattcGtctccgacacagacgatcac	6	16	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:69737166G>A	uc002asb.2	+	19	2534	c.2417G>A	c.(2416-2418)CGT>CAT	p.R806H	KIF23_uc002asc.2_Missense_Mutation_p.R702H|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.R519H	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	806					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						CCACCAATTCGTCTCCGACAC	0.463													A	69737166	G	A	69737166	3	1	198	1	0	0	0	0	1	0	0	0	8291	1145	40	1	2491	1	KIF23	15	69737166	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5843573	69737166	32794226	1027	110116											
THSD4	79875	broad.mit.edu	37	chr15	71952908	71952908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaggctccgacaaagtcGtggacaaatgtggggtgtgt	14	7	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:71952908G>A	uc002atb.1	+	7	1271	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M	THSD4_uc002atd.1_Missense_Mutation_p.V72M|THSD4_uc010ukg.1_Missense_Mutation_p.V38M|THSD4_uc002ate.2_Missense_Mutation_p.V38M	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	398						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CGACAAAGTCGTGGACAAATG	0.517													A	71952908	G	A	71952908	3	1	198	1	0	0	0	0	1	0	0	0	15875	1145	40	1	1218	1	THSD4	15	71952908	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2215742	71952908	30578484	1028	110117											
STOML1	9399	broad.mit.edu	37	chr15	74276451	74276451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatgccatcaggcacccCgtgtcccactcttcctcgtc	9	17	2	0	rs141171144	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:74276451C>T	uc002awe.2	-	7	1095	c.1024G>A	c.(1024-1026)GGG>AGG	p.G342R	STOML1_uc002awf.2_Missense_Mutation_p.G341R|STOML1_uc010bje.2_Missense_Mutation_p.G271R|STOML1_uc010uld.1_Missense_Mutation_p.G299R|STOML1_uc002awh.2_Missense_Mutation_p.G292R|STOML1_uc002awg.2_Missense_Mutation_p.G291R|STOML1_uc002awi.2_Missense_Mutation_p.G254R	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	342	Cytoplasmic (Potential).|SCP2.					integral to membrane	sterol binding			skin(1)	1						TCAGGCACCCCGTGTCCCACT	0.622													T	74276451	C	T	74276451	3	4	198	1	0	0	0	0	1	0	0	0	15312	652	23	1	176	1	STOML1	15	74276451	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2323543	74276451	28254941	1029	110118											
CYP11A1	1583	broad.mit.edu	37	chr15	74630343	74630343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttcctggttaaagggCcagaaggtgaaggagatggg	17	5	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:74630343C>A	uc002axt.2	-	9	1691	c.1536G>T	c.(1534-1536)TGG>TGT	p.W512C	CYP11A1_uc002axs.2_Missense_Mutation_p.W354C|CYP11A1_uc010bjm.1_Missense_Mutation_p.W354C|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.W430C	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	512					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			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGTTAAAGGGCCAGAAGGTGA	0.552													A	74630343	C	A	74630343	3	1	198	1	0	0	0	0	1	0	0	0	4144	740	26	5	33	5	CYP11A1	15	74630343	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	353892	74630343	27901049	1030	110119											
SIN3A	25942	broad.mit.edu	37	chr15	75699402	75699403	+	Frame_Shift_Ins	INS	-	-	A													atccattactcaccttatcaINSaaaaataacgattctgttcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:75699401_75699402C>CA	uc002bai.3	-	8	1660_1661	c.1401_1402G>TG	c.(1399-1404)tttgatfs	p.F467fs	SIN3A_uc002baj.3_Frame_Shift_Ins_p.F467fs|SIN3A_uc010uml.2_Frame_Shift_Ins_p.F467fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	467	Interaction with REST (By similarity).|Interaction with SAP30 (By similarity).|PAH 3.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	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						CTCACCTTATCAAAAAATAACG	0.396													A	75699403	-	A	75699402	7	5	198	1	0	1	1	0	0	0	0	0	14325	127	5	0	2472	0	SIN3A	15	75699402	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1069059	75699402	26831990	1031	110120											
PTPN9	5780	broad.mit.edu	37	chr15	75819488	75819488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaacaattctatggcacGgagcacatcaaacttccttg	9	10	2	0	rs114183309	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:75819488G>A	uc002bal.2	-	2	686	c.178C>T	c.(178-180)CGT>TGT	p.R60C		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	60						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TCTATGGCACGGAGCACATCA	0.493													A	75819488	G	A	75819488	3	1	198	1	0	0	0	0	1	0	0	0	12794	1116	39	1	1651	1	PTPN9	15	75819488	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	120086	75819488	26711904	1032	110121											
AP3B2	8120	broad.mit.edu	37	chr15	83348969	83348969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgttctggagcacaacGtactgcacctcactgcggag	11	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:83348969G>A	uc010uoh.1	-	9	1245	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	AP3B2_uc010uoi.1_Silent_p.Y356Y|AP3B2_uc010uoj.1_Silent_p.Y324Y|AP3B2_uc010uog.1_Translation_Start_Site	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	356					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAGCACAACGTACTGCACCT	0.677													A	83348969	G	A	83348969	2	1	198	1	0	0	0	0	0	0	0	1	745	1140	40	1		1	AP3B2	15	83348969	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7529481	83348969	19182423	1033	110122											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164613	85164613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtaccgactgtgGgcagaggttcagccagagtt	12	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:85164613G>T	uc002bkr.2	+	3	1413	c.1187G>T	c.(1186-1188)GGG>GTG	p.G396V	ZSCAN2_uc010bmz.1_Missense_Mutation_p.G394V|ZSCAN2_uc010bna.2_Missense_Mutation_p.G246V|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	396	C2H2-type 7.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCGACTGTGGGCAGAGGTTC	0.512													T	85164613	G	T	85164613	3	4	198	1	0	0	0	0	1	0	0	0	18228	1232	43	5	1283	5	ZSCAN2	15	85164613	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1815644	85164613	17366779	1034	110123											
KIF7	374654	broad.mit.edu	37	chr15	90188351	90188351	+	Frame_Shift_Del	DEL	G	G	-													gccactctgaggctgtggcaGgggggacctggcgggcctga					rs147779399	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:90188350_90188350AG>A	uc002bof.2	-	9	2162	c.2085_2085CT>T	c.(2083-2085)cctfs	p.P695fs	KIF7_uc010upw.1_Frame_Shift_Del_p.P181fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	695					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)			AGGCTGTGGCAGGGGGGACCT	0.642													-	90188351	G	-	90188351	7	5	198	1	0	1	0	1	0	0	0	0	8309	1000	35	0	1987	0	KIF7	15	90188351	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	5023738	90188351	12343041	1035	110124											
C15orf32	145858	broad.mit.edu	37	chr15	93015569	93015570	+	Frame_Shift_Ins	INS	-	-	T													ctttctatactagcccttgtINStggggtgttgcacccatttt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:93015568_93015569G>GT	uc002brc.1	+	0	662_663	c.190_191G>GT	c.(190-192)gttfs	p.V64fs	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	64										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)			ACTAGCCCTTGTTGGGGTGTTG	0.475													T	93015570	-	T	93015569	7	5	198	1	0	1	1	0	0	0	0	0	1790	1725	60	0	193	0	C15orf32	15	93015569	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	2827218	93015569	9515823	1036	110125											
IGF1R	3480	broad.mit.edu	37	chr15	99486214	99486214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaggagggaaagggctgCtgcccgtgcgctggatgtct	18	8	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:99486214C>T	uc002bul.2	+	19	3570	c.3520C>T	c.(3520-3522)CTG>TTG	p.L1174L	IGF1R_uc010bon.2_Silent_p.L1173L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1174	Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	GAAAGGGCTGCTGCCCGTGCG	0.532													T	99486214	C	T	99486214	2	4	198	1	0	0	0	0	0	0	0	1	7571	796	28	2		2	IGF1R	15	99486214	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	6470645	99486214	3045178	1037	110126											
CRAMP1L	57585	broad.mit.edu	37	chr16	1709993	1709993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcagctctcgcagcccccGctgccctcggaaccaggcct	10	20	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:1709993G>A	uc010uvh.1	+	10	2342	c.2342G>A	c.(2341-2343)CGC>CAC	p.R781H	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	781						nucleus	DNA binding				0						CGCAGCCCCCGCTGCCCTCGG	0.657													A	1709993	G	A	1709993	3	1	198	1	0	0	0	0	1	0	0	0	3846	1087	38	1	2380	1	CRAMP1L	16	1709993	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08		1709993	88644760	1038	110127											
TRAF7	84231	broad.mit.edu	37	chr16	2215906	2215906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaaacgaccttcggaccCgccttttcagccgtcaccac	8	16	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:2215906C>T	uc002cow.2	+	3	207	c.108C>T	c.(106-108)CCC>CCT	p.P36P		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	36					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCTTCGGACCCGCCTTTTCAG	0.607													T	2215906	C	T	2215906	2	4	198	1	0	0	0	0	0	0	0	1	16443	639	23	1		1	TRAF7	16	2215906	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	505913	2215906	88138847	1039	110128											
TCEB2	6923	broad.mit.edu	37	chr16	2822060	2822060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacatcgggcagctctggCgggctggaaaacggctcgat	14	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:2822060C>T	uc002crn.2	-	4	345	c.288G>A	c.(286-288)CCG>CCA	p.P96P	TCEB2_uc002crm.2_Silent_p.P96P	NM_007108	NP_009039	Q15370	ELOB_HUMAN	elongin B isoform a	96					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				0						GCAGCTCTGGCGGGCTGGAAA	0.607													T	2822060	C	T	2822060	2	4	198	1	0	0	0	0	0	0	0	1	15677	755	27	1		1	TCEB2	16	2822060	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	606154	2822060	87532693	1040	110129											
CREBBP	1387	broad.mit.edu	37	chr16	3789629	3789629	+	Frame_Shift_Del	DEL	A	A	-													tattcttggacgtgcattccAaaaaagcagacatccacgcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:3789629delA	uc002cvv.2	-	25	4434	c.4230delT	c.(4228-4230)TTTfs	p.F1410fs	CREBBP_uc002cvw.2_Frame_Shift_Del_p.F1372fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1410	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.F1410fs*49(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGTGCATTCCAAAAAAGCAGA	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				-	3789629	A	-	3789629	7	5	198	1	0	1	0	1	0	0	0	0	3861	127	5	0	3126	0	CREBBP	16	3789629	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	967569	3789629	86565124	1041	110130											
GLYR1	84656	broad.mit.edu	37	chr16	4862174	4862174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagccgctaagatcaccaAcatcccgtcattagacagct	6	15	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:4862174A>G	uc002cxx.3	-	13	1232	c.1195T>C	c.(1195-1197)TTG>CTG	p.L399L	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.L313L|GLYR1_uc002cya.2_Silent_p.L393L|GLYR1_uc010uxv.1_Silent_p.L318L	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	399					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						AAGATCACCAACATCCCGTCA	0.562													G	4862174	A	G	4862174	2	3	198	1	0	0	0	0	0	0	0	1	6483	40	2	3		3	GLYR1	16	4862174	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1072545	4862174	85492579	1042	110131											
TXNDC11	51061	broad.mit.edu	37	chr16	11785525	11785525	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttatggtcctgcaacaTgcagtgtagtagctgaaggg	13	8	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11785525T>C	uc010buu.1	-	9	1664	c.1602A>G	c.(1600-1602)GCA>GCG	p.A534A	TXNDC11_uc002dbg.1_Silent_p.A507A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	534					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TCCTGCAACATGCAGTGTAGT	0.448													C	11785525	T	C	11785525	2	2	198	1	0	0	0	0	0	0	0	1	16789	1451	51	3		3	TXNDC11	16	11785525	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	6923351	11785525	78569228	1043	110132											
RSL1D1	26156	broad.mit.edu	37	chr16	11931770	11931771	+	Frame_Shift_Ins	INS	-	-	T													ttggagtctgtctcgcatctINStttttccccagcgaaggact							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11931769_11931770C>CT	uc002dbp.1	-	8	1420_1421	c.1347_1348G>AG	c.(1345-1350)aaagatfs	p.K449fs	RSL1D1_uc010buv.1_Frame_Shift_Ins_p.K448fs|RSL1D1_uc010uyw.1_Frame_Shift_Ins_p.K229fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	449					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tgtctcgcatcttttttcccca	0.46													T	11931771	-	T	11931770	7	5	198	1	0	1	1	0	0	0	0	0	13700	1606	56	0	129	0	RSL1D1	16	11931770	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	146245	11931770	78422983	1044	110133											
RSL1D1	26156	broad.mit.edu	37	chr16	11933782	11933784	+	In_Frame_Del	DEL	TCT	TCT	-													agtcttcctagcctgctgccTcttcttcttcctctcctttt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11933781_11933783CTCT>C	uc002dbp.1	-	7	988_990	c.915_917AGAG>G	c.(913-918)aagagg>aaGg	p.R306del	RSL1D1_uc010buv.1_In_Frame_Del_p.R305del|RSL1D1_uc010uyw.1_In_Frame_Del_p.R86del|RSL1D1_uc010buw.2_Non-coding_Transcript	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	306					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						agcctgctgcctcttcttcttcc	0.399													-	11933784	TCT	-	11933782	7	5	198	1	0	1	0	1	0	0	0	0	13700	1550	54	0	564	0	RSL1D1	16	11933782	In_Frame_Del	DEL	TCT	TCGA-CG-5733-01A-11D-1600-08	2012	11933782	78420971	1045	110134											
GSPT1	2935	broad.mit.edu	37	chr16	11979123	11979123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccagatatggaataaacGgtaatccactgagaacataa	7	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11979123G>A	uc002dbr.2	-	8	875	c.848C>T	c.(847-849)CCG>CTG	p.P283L	GSPT1_uc002dbu.2_Missense_Mutation_p.P420L|GSPT1_uc002dbt.2_Missense_Mutation_p.P421L|GSPT1_uc010bux.2_Missense_Mutation_p.P283L	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	G1 to S phase transition 1 isoform 3	283					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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TGGAATAAACGGTAATCCACT	0.328													A	11979123	G	A	11979123	3	1	198	1	0	0	0	0	1	0	0	0	6826	1116	39	1	675	1	GSPT1	16	11979123	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	45341	11979123	78375630	1046	110135											
NDE1	54820	broad.mit.edu	37	chr16	15788039	15788039	+	Frame_Shift_Del	DEL	G	G	-													caggcctggacgactccaccGgggggacccccctcacacct					rs150492774		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:15788038_15788038CG>C	uc002ddt.1	+	5	763	c.720_720CG>C	c.(718-720)accfs	p.T240fs	NDE1_uc010uzy.2_Frame_Shift_Del_p.T240fs|NDE1_uc002dds.3_Frame_Shift_Del_p.T240fs|NDE1_uc002ddu.1_Frame_Shift_Del_p.T177fs	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	240	Interaction with CENPF (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|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						ACGACTCCACCGGGGGGACCC	0.567													-	15788039	G	-	15788039	7	5	198	1	0	1	0	1	0	0	0	0	10243	1116	39	0	743	0	NDE1	16	15788039	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	3808916	15788039	74566714	1047	110136											
TMC7	79905	broad.mit.edu	37	chr16	19063046	19063046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaccctcccccaggccGttcagagcatccaattctaa	7	16	2	2	rs150607973		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:19063046G>A	uc002dfq.2	+	13	1909	c.1779G>A	c.(1777-1779)CCG>CCA	p.P593P	TMC7_uc002dfp.2_Silent_p.P593P|TMC7_uc010vap.1_Silent_p.P483P	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	593	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						CCCCCAGGCCGTTCAGAGCAT	0.388													A	19063046	G	A	19063046	2	1	198	1	0	0	0	0	0	0	0	1	15987	1132	40	1		1	TMC7	16	19063046	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3275007	19063046	71291707	1048	110137											
ACSM2A	123876	broad.mit.edu	37	chr16	20471449	20471449	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaatatgcattggctgCgaaaagttcagggactttgc	12	8	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:20471449C>T	uc010bwe.2	+	3	252	c.13C>T	c.(13-15)CGA>TGA	p.R5*	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Nonsense_Mutation_p.R5*|ACSM2A_uc002dhg.3_Nonsense_Mutation_p.R5*|ACSM2A_uc010vay.1_Intron	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	5					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GCATTGGCTGCGAAAAGTTCA	0.488													T	20471449	C	T	20471449	4	4	198	1	0	0	0	0	0	1	0	0	183	760	27	1	15	1	ACSM2A	16	20471449	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1408403	20471449	69883304	1049	110138											
DNAH3	55567	broad.mit.edu	37	chr16	20994175	20994175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagggaacatccgcaggCggttcctgaaggcatcccct	13	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:20994175C>T	uc010vbe.1	-	49	7727	c.7727G>A	c.(7726-7728)CGC>CAC	p.R2576H	DNAH3_uc010vbd.1_Missense_Mutation_p.R11H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2576	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATCCGCAGGCGGTTCCTGAA	0.507													T	20994175	C	T	20994175	3	4	198	1	0	0	0	0	1	0	0	0	4603	768	27	1	4678	1	DNAH3	16	20994175	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	522726	20994175	69360578	1050	110139											
TNRC6A	27327	broad.mit.edu	37	chr16	24802952	24802952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccccagaatctatacgtCgcaaaatggagattgatgat	8	9	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:24802952C>T	uc002dmm.2	+	6	3103	c.2989C>T	c.(2989-2991)CGC>TGC	p.R997C	TNRC6A_uc010bxs.2_Missense_Mutation_p.R744C|TNRC6A_uc010vcc.1_Missense_Mutation_p.R744C|TNRC6A_uc002dmn.2_Missense_Mutation_p.R744C|TNRC6A_uc002dmo.2_Missense_Mutation_p.R744C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	997	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		ATCTATACGTCGCAAAATGGA	0.483													T	24802952	C	T	24802952	3	4	198	1	0	0	0	0	1	0	0	0	16337	884	31	1	3011	1	TNRC6A	16	24802952	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3808777	24802952	65551801	1051	110140											
AQP8	343	broad.mit.edu	37	chr16	25228611	25228611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtacgaacggtttgtGcagccatgtctggtcgaact	12	10	1	0	rs138426074		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:25228611G>A	uc002doc.2	+	2	187	c.105G>A	c.(103-105)GTG>GTA	p.V35V		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	35	Cytoplasmic (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		AACGGTTTGTGCAGCCATGTC	0.592													A	25228611	G	A	25228611	2	1	198	1	0	0	0	0	0	0	0	1	832	1306	46	2		2	AQP8	16	25228611	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	425659	25228611	65126142	1052	110141											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255513	25255513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacaatttgctcttccgaTgacaggcttgaagcgcttca	8	11	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:25255513T>C	uc002dod.3	-	6	1981	c.1574A>G	c.(1573-1575)CAT>CGT	p.H525R	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.H321R	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	525					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GCTCTTCCGATGACAGGCTTG	0.507													C	25255513	T	C	25255513	3	2	198	1	0	0	0	0	1	0	0	0	17684	1464	51	3	1337	3	ZKSCAN2	16	25255513	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	26902	25255513	65099240	1053	110142											
HS3ST4	9951	broad.mit.edu	37	chr16	26147212	26147212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatagggatctatgcgctGcatctggaaaactggctcca	11	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:26147212G>A	uc002dof.2	+	2	1406	c.1014G>A	c.(1012-1014)CTG>CTA	p.L338L		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	338	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		TCTATGCGCTGCATCTGGAAA	0.557													A	26147212	G	A	26147212	2	1	198	1	0	0	0	0	0	0	0	1	7367	1306	46	2		2	HS3ST4	16	26147212	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	891699	26147212	64207541	1054	110143											
JMJD5	79831	broad.mit.edu	37	chr16	27231806	27231806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctccataacacgagccaGgtgggcactgggggtctggg	15	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:27231806G>T	uc002doh.2	+	7	1268	c.1086G>T	c.(1084-1086)CAG>CAT	p.Q362H	JMJD5_uc010vcn.1_Missense_Mutation_p.Q400H|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	362	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						ACACGAGCCAGGTGGGCACTG	0.592													T	27231806	G	T	27231806	3	4	198	1	0	0	0	0	1	0	0	0	7952	1014	35	5	1226	5	JMJD5	16	27231806	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1084594	27231806	63122947	1055	110144											
SH2B1	25970	broad.mit.edu	37	chr16	28883900	28883900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtcagtgccgggtccagCacctgtggttccagtccatt	13	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:28883900C>T	uc002dri.2	+	10	2210	c.1771C>T	c.(1771-1773)CAC>TAC	p.H591Y	uc010vct.1_Intron|SH2B1_uc010vdc.1_Missense_Mutation_p.H281Y|SH2B1_uc002drj.2_Missense_Mutation_p.H591Y|SH2B1_uc002drk.2_Missense_Mutation_p.H591Y|SH2B1_uc002drl.2_Missense_Mutation_p.H591Y|SH2B1_uc010vdd.1_Missense_Mutation_p.H255Y|SH2B1_uc010vde.1_Missense_Mutation_p.H591Y|SH2B1_uc002drm.2_Missense_Mutation_p.H591Y	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	591	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						CCGGGTCCAGCACCTGTGGTT	0.597													T	28883900	C	T	28883900	3	4	198	1	0	0	0	0	1	0	0	0	14227	710	25	2	1797	2	SH2B1	16	28883900	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1652094	28883900	61470853	1056	110145											
YPEL3	83719	broad.mit.edu	37	chr16	30106652	30106652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggtgacaatcatccaagTaggcctgaaacgtcttgggc	11	11	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:30106652T>C	uc002dwm.2	-	2	224	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|YPEL3_uc002dwl.2_Missense_Mutation_p.Y51C|YPEL3_uc002dwn.1_Missense_Mutation_p.Y51C|uc002dwo.1_5'Flank	NM_001145524	NP_001138996	P61236	YPEL3_HUMAN	yippee-like 3 isoform 2	13						nucleolus					0						ATCATCCAAGTAGGCCTGAAA	0.652													C	30106652	T	C	30106652	3	2	198	1	0	0	0	0	1	0	0	0	17488	1638	57	3	337	3	YPEL3	16	30106652	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	1222752	30106652	60248101	1057	110146											
ZNF689	115509	broad.mit.edu	37	chr16	30616043	30616043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagcgggcctcacagtGctcgcaggcatagggacgct	16	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:30616043G>A	uc002dyx.2	-	3	1365	c.1045C>T	c.(1045-1047)CAC>TAC	p.H349Y	ZNF689_uc010bzy.2_Silent_p.S4S	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	349	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GCCTCACAGTGCTCGCAGGCA	0.682													A	30616043	G	A	30616043	3	1	198	1	0	0	0	0	1	0	0	0	18091	1319	46	2	461	2	ZNF689	16	30616043	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	509391	30616043	59738710	1058	110147											
SRCAP	10847	broad.mit.edu	37	chr16	30734020	30734020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccttcttcgacccccagCaccacccctgcccctactgg	6	22	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:30734020C>A	uc002dze.1	+	23	4228	c.3843C>A	c.(3841-3843)AGC>AGA	p.S1281R	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Intron|SRCAP_uc010bzz.1_Missense_Mutation_p.S851R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1281	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CGACCCCCAGCACCACCCCTG	0.652													A	30734020	C	A	30734020	3	1	198	1	0	0	0	0	1	0	0	0	15134	709	25	5	3925	5	SRCAP	16	30734020	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	117977	30734020	59620733	1059	110148											
ZNF646	9726	broad.mit.edu	37	chr16	31088784	31088784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccgctgtggggactgtgGccgtacttaccgccatgctg	13	12	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31088784G>A	uc002eap.2	+	2	1428	c.1139G>A	c.(1138-1140)GGC>GAC	p.G380D		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	380	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGGGACTGTGGCCGTACTTAC	0.587													A	31088784	G	A	31088784	3	1	198	1	0	0	0	0	1	0	0	0	18059	1203	42	2	1141	2	ZNF646	16	31088784	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	354764	31088784	59265969	1060	110149											
ITGAX	3687	broad.mit.edu	37	chr16	31372506	31372506	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagatattcaaaaccaActgaaggagaagatctttgc	8	7	2	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31372506A>T	uc002ebu.1	+	9	1051	c.984A>T	c.(982-984)CAA>CAT	p.Q328H	ITGAX_uc002ebt.2_Missense_Mutation_p.Q328H|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	328	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCAAAACCAACTGAAGGAGA	0.443													T	31372506	A	T	31372506	3	4	198	1	0	0	0	0	1	0	0	0	7889	40	2	5	1018	5	ITGAX	16	31372506	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	283722	31372506	58982247	1061	110150											
SLC5A2	6524	broad.mit.edu	37	chr16	31498660	31498660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggctggccgcgctgatGtacacggacacggtacagac	16	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31498660G>A	uc002ecf.3	+	6	613	c.594G>A	c.(592-594)ATG>ATA	p.M198I	SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	198	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						CCGCGCTGATGTACACGGACA	0.622													A	31498660	G	A	31498660	3	1	198	1	0	0	0	0	1	0	0	0	14665	1377	48	4	616	4	SLC5A2	16	31498660	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	126154	31498660	58856093	1062	110151											
C16orf58	64755	broad.mit.edu	37	chr16	31512030	31512030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccaggcaaagacgatGcggcccagcatgccagttga	11	13	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31512030G>A	uc002eci.1	-	3	450	c.438C>T	c.(436-438)CGC>CGT	p.R146R	C16orf58_uc010vfq.1_Silent_p.R4R	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	146						integral to membrane				ovary(1)|breast(1)	2						CAAAGACGATGCGGCCCAGCA	0.512													A	31512030	G	A	31512030	2	1	198	1	0	0	0	0	0	0	0	1	1822	1306	46	2		2	C16orf58	16	31512030	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	13370	31512030	58842723	1063	110152											
NETO2	81831	broad.mit.edu	37	chr16	47165886	47165887	+	Frame_Shift_Ins	INS	-	-	T													gtaagtactttaccttgggtINStttttgggccacggcaatcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:47165885_47165886G>GT	uc002eer.2	-	1	498_499	c.85_86C>AC	c.(85-87)accfs	p.T29fs	NETO2_uc010vgf.2_Frame_Shift_Ins_p.T29fs	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	29						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)				TTTACCTTGGGTTTTTTGGGCC	0.356										HNSCC(25;0.065)			T	47165887	-	T	47165886	7	5	198	1	0	1	1	0	0	0	0	0	10340	1725	60	0	1524	0	NETO2	16	47165886	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	15653856	47165886	43188867	1064	110153											
NETO2	81831	broad.mit.edu	37	chr16	47165899	47165899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggttttttgggccacGgcaatcccttccactaccag	9	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:47165899G>A	uc002eer.1	-	2	457	c.72C>T	c.(70-72)GCC>GCT	p.A24A	NETO2_uc002ees.1_Silent_p.A24A	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	24	Extracellular (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTTGGGCCACGGCAATCCCTT	0.358										HNSCC(25;0.065)			A	47165899	G	A	47165899	2	1	198	1	0	0	0	0	0	0	0	1	10340	1103	39	1		1	NETO2	16	47165899	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	13	47165899	43188854	1065	110154											
ABCC11	85320	broad.mit.edu	37	chr16	48226616	48226616	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggttccattgctctctcGgctgctattggtcttcaaga	9	11	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:48226616G>A	uc002eff.1	-	19	2871	c.2521C>T	c.(2521-2523)CGA>TGA	p.R841*	ABCC11_uc002efg.1_Nonsense_Mutation_p.R841*|ABCC11_uc002efh.1_Nonsense_Mutation_p.R841*|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	841	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGCTCTCTCGGCTGCTATTG	0.557									Cerumen_Type				A	48226616	G	A	48226616	4	1	198	1	0	0	0	0	0	1	0	0	51	1124	39	1	1671	1	ABCC11	16	48226616	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1060717	48226616	42128137	1066	110155											
SALL1	6299	broad.mit.edu	37	chr16	51175241	51175241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaggctctgtgccaatcCagctgctgctgccagctgct	13	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:51175241C>T	uc010vgs.1	-	2	923	c.892G>A	c.(892-894)GGA>AGA	p.G298R	SALL1_uc010vgr.1_Missense_Mutation_p.G201R|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	298					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGTGCCAATCCAGCTGCTGCT	0.522													T	51175241	C	T	51175241	3	4	198	1	0	0	0	0	1	0	0	0	13810	603	21	4	3090	4	SALL1	16	51175241	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2948625	51175241	39179512	1067	110156											
CAPNS2	84290	broad.mit.edu	37	chr16	55600706	55600706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctattggaaggagcagatcGaggtcttggagaagctcttg	14	6	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:55600706G>A	uc002eid.1	+	1	123	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	calpain small subunit 2	13	Gly-rich.					cytoplasm|plasma membrane	calcium ion binding				0						GGAGCAGATCGAGGTCTTGGA	0.438													A	55600706	G	A	55600706	3	1	198	1	0	0	0	0	1	0	0	0	2634	1058	37	1	40	1	CAPNS2	16	55600706	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4425465	55600706	34754047	1068	110157											
AMFR	267	broad.mit.edu	37	chr16	56401438	56401438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtctgatgctatctgacCgctggaagagaaacagtacc	11	10	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:56401438C>T	uc002eiy.2	-	12	1722	c.1517G>A	c.(1516-1518)CGG>CAG	p.R506Q	AMFR_uc002eix.2_Missense_Mutation_p.R140Q	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	506					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|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						GCTATCTGACCGCTGGAAGAG	0.498													T	56401438	C	T	56401438	3	4	198	1	0	0	0	0	1	0	0	0	571	666	23	1	426	1	AMFR	16	56401438	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	800732	56401438	33953315	1069	110158											
NUP93	9688	broad.mit.edu	37	chr16	56862946	56862946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatcaggcccagctgggCggggtgcctgggacttacca	15	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:56862946C>T	uc002eka.2	+	9	973	c.852C>T	c.(850-852)GGC>GGT	p.G284G	NUP93_uc002ekb.2_Silent_p.G161G|NUP93_uc010vhi.1_Silent_p.G161G	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	284					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						CCCAGCTGGGCGGGGTGCCTG	0.438													T	56862946	C	T	56862946	2	4	198	1	0	0	0	0	0	0	0	1	10772	755	27	1		1	NUP93	16	56862946	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	461508	56862946	33491807	1070	110159											
CDH8	1006	broad.mit.edu	37	chr16	61747844	61747844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatcatctttgtccatggCgctaacagtttgaatgacct	10	9	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:61747844C>T	uc002eog.1	-	10	1807	c.1555G>A	c.(1555-1557)GCC>ACC	p.A519T		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	519	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		TTGTCCATGGCGCTAACAGTT	0.388													T	61747844	C	T	61747844	3	4	198	1	0	0	0	0	1	0	0	0	3116	768	27	1	856	1	CDH8	16	61747844	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4884898	61747844	28606909	1071	110160											
CES2	8824	broad.mit.edu	37	chr16	66974142	66974142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgatggtgtggatccaCggtggtgcgcttgtttttgg	17	6	0	1	rs150573301	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:66974142C>T	uc002eqr.2	+	4	1633	c.633C>T	c.(631-633)CAC>CAT	p.H211H	CES2_uc002eqq.2_Silent_p.H211H|CES2_uc002eqs.2_Silent_p.H54H	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	147					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGTGGATCCACGGTGGTGCGC	0.567													T	66974142	C	T	66974142	2	4	198	1	0	0	0	0	0	0	0	1	3270	535	19	1		1	CES2	16	66974142	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5226298	66974142	23380611	1072	110161											
HSF4	3299	broad.mit.edu	37	chr16	67199519	67199519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatggcgagcttcgtgcGccaactcaacatgtgtgagt	11	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67199519G>A	uc002erl.1	+	4	1183	c.218G>A	c.(217-219)CGC>CAC	p.R73H	HSF4_uc002erm.1_Missense_Mutation_p.R73H|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	73	By similarity.		R -> H (in CZ-HSF4).		response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCTTCGTGCGCCAACTCAAC	0.652													A	67199519	G	A	67199519	3	1	198	1	0	0	0	0	1	0	0	0	7398	1087	38	1	224	1	HSF4	16	67199519	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	225377	67199519	23155234	1073	110162											
SLC9A5	6553	broad.mit.edu	37	chr16	67293791	67293791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgcagcggccgggatcGtgaggatgctgtgatgcatc	16	9	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67293791G>A	uc002esm.2	+	12	1847	c.1784G>A	c.(1783-1785)CGT>CAT	p.R595H	SLC9A5_uc010cee.2_Missense_Mutation_p.R300H|SLC9A5_uc010vji.1_Missense_Mutation_p.R99H|uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	595					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGCCGGGATCGTGAGGATGCT	0.612													A	67293791	G	A	67293791	3	1	198	1	0	0	0	0	1	0	0	0	14717	1145	40	1	1830	1	SLC9A5	16	67293791	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	94272	67293791	23060962	1074	110163											
PLEKHG4	25894	broad.mit.edu	37	chr16	67314221	67314221	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacagtagaaagctcctcaGtcctgtcagaagggccaggc	12	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67314221G>C	uc002eso.3	+	1	2809	c.274G>C	c.(274-276)GTC>CTC	p.V92L	PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Missense_Mutation_p.V92L|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Missense_Mutation_p.V92L|PLEKHG4_uc002ess.3_Missense_Mutation_p.V92L|PLEKHG4_uc010ceg.2_Missense_Mutation_p.V92L	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	92					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AAGCTCCTCAGTCCTGTCAGA	0.612													C	67314221	G	C	67314221	3	2	198	1	0	0	0	0	1	0	0	0	12071	1029	36	5	276	5	PLEKHG4	16	67314221	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	20430	67314221	23040532	1075	110164											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472975	67472975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtgtggaaagagctTggcacggtcctctttggaca	12	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67472975T>C	uc002ete.1	-	6	815	c.715A>G	c.(715-717)AAG>GAG	p.K239E	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.K280E|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.K162E	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	239					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					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GGAAAGAGCTTGGCACGGTCC	0.577													C	67472975	T	C	67472975	3	2	198	1	0	0	0	0	1	0	0	0	1173	1821	63	3	352	3	ATP6V0D1	16	67472975	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	158754	67472975	22881778	1076	110165											
PSMB10	5699	broad.mit.edu	37	chr16	67968747	67968747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtccgcagcagcttggcGccagtctttgtgatcacaca	11	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67968747G>A	uc002eux.1	-	7	764	c.663C>T	c.(661-663)GGC>GGT	p.G221G	CTRL_uc002euw.2_5'Flank	NM_002801	NP_002792	P40306	PSB10_HUMAN	proteasome beta 10 subunit proprotein	221					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|humoral immune response|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				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCAGCTTGGCGCCAGTCTTTG	0.637													A	67968747	G	A	67968747	2	1	198	1	0	0	0	0	0	0	0	1	12675	1074	38	1		1	PSMB10	16	67968747	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	495772	67968747	22386006	1077	110166											
CDH1	999	broad.mit.edu	37	chr16	68862117	68862117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttcttcggaggagagcGgtggtcaaagagcccttact	13	9	2	2	rs138493551	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:68862117G>A	uc002ewg.1	+	14	2329	c.2205G>A	c.(2203-2205)GCG>GCA	p.A735A	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.A674A	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	735	Cytoplasmic (Potential).				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			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		GGAGGAGAGCGGTGGTCAAAG	0.527			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				A	68862117	G	A	68862117	2	1	198	1	0	0	0	0	0	0	0	1	3095	1103	39	1		1	CDH1	16	68862117	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	893370	68862117	21492636	1078	110167											
NFAT5	10725	broad.mit.edu	37	chr16	69687167	69687167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccaaaaaggaactggaGtaaagaagagccctatgttg	10	6	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:69687167G>A	uc002exm.1	+	4	1995	c.787G>A	c.(787-789)GTA>ATA	p.V263I	NFAT5_uc002exh.1_Missense_Mutation_p.V57I|NFAT5_uc002exi.2_Missense_Mutation_p.V187I|NFAT5_uc002exj.1_Missense_Mutation_p.V187I|NFAT5_uc002exk.1_Missense_Mutation_p.V187I|NFAT5_uc002exl.1_Missense_Mutation_p.V281I|NFAT5_uc002exn.1_Missense_Mutation_p.V281I	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	263					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGGAACTGGAGTAAAGAAGAG	0.378													A	69687167	G	A	69687167	3	1	198	1	0	0	0	0	1	0	0	0	10360	1029	36	4	859	4	NFAT5	16	69687167	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	825050	69687167	20667586	1079	110168											
VAC14	55697	broad.mit.edu	37	chr16	70778435	70778435	+	Frame_Shift_Del	DEL	G	G	-													gggtcatccgtctggcctgcGggggaggaagcgatttctgc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:70778434_70778434CG>C	uc002ezm.3	-	12	1678	c.1420_1420CG>G	c.(1420-1422)gcafs	p.A474fs	VAC14_uc010cfw.3_Frame_Shift_Del_p.A240fs|VAC14_uc002ezn.3_Frame_Shift_Del_p.A39fs|VAC14_uc010cfx.1_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	474					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTCTGGCCTGCGGGGGAGGAA	0.662													-	70778435	G	-	70778435	7	5	198	1	0	1	0	1	0	0	0	0	17108	1103	39	0	957	0	VAC14	16	70778435	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1091268	70778435	19576318	1080	110169											
HYDIN	54768	broad.mit.edu	37	chr16	70954971	70954971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcactgtcctcttggtcCtggacaagaggaagcccatg	10	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:70954971C>A	uc002ezr.2	-	46	7433	c.7305G>T	c.(7303-7305)CAG>CAT	p.Q2435H		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2436										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCTCTTGGTCCTGGACAAGAG	0.463													A	70954971	C	A	70954971	3	1	198	1	0	0	0	0	1	0	0	0	7467	680	24	5	8221	5	HYDIN	16	70954971	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	176536	70954971	19399782	1081	110170											
AP1G1	164	broad.mit.edu	37	chr16	71803538	71803538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctacctttctgaaatgCgcaagcatgtctgggcttcg	10	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:71803538C>T	uc010cgg.2	-	6	944	c.630G>A	c.(628-630)GCG>GCA	p.A210A	AP1G1_uc002fba.2_Silent_p.A210A|AP1G1_uc002fbb.2_Silent_p.A233A|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.A292A	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	210					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			ovary(2)	2		Ovarian(137;0.125)				TTCTGAAATGCGCAAGCATGT	0.383													T	71803538	C	T	71803538	2	4	198	1	0	0	0	0	0	0	0	1	732	755	27	1		1	AP1G1	16	71803538	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	848567	71803538	18551215	1082	110171											
ZFHX3	463	broad.mit.edu	37	chr16	72831632	72831632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctcacaggacttggcgtgGaggagctcaaggaaatactg	14	8	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:72831632G>T	uc002fck.2	-	9	5622	c.4949C>A	c.(4948-4950)TCC>TAC	p.S1650Y	ZFHX3_uc002fcl.2_Missense_Mutation_p.S736Y	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1650					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ACTTGGCGTGGAGGAGCTCAA	0.542													T	72831632	G	T	72831632	3	4	198	1	0	0	0	0	1	0	0	0	17631	1174	41	5	6170	5	ZFHX3	16	72831632	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1028094	72831632	17523121	1083	110172											
ZFHX3	463	broad.mit.edu	37	chr16	72991509	72991509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgaggcccaggtggcGgttgtgttggatctgggtca	18	9	2	0	rs141276031		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:72991509G>A	uc002fck.2	-	2	3209	c.2536C>T	c.(2536-2538)CGC>TGC	p.R846C	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	846				RHLG -> HHRV (in Ref. 1).	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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CCCAGGTGGCGGTTGTGTTGG	0.567													A	72991509	G	A	72991509	3	1	198	1	0	0	0	0	1	0	0	0	17631	1116	39	1	8611	1	ZFHX3	16	72991509	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	159877	72991509	17363244	1084	110173											
ZFHX3	463	broad.mit.edu	37	chr16	72992629	72992629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttcctcctcctcctcCgcctcttcctcctcctcttc	1	23	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:72992629C>T	uc002fck.2	-	2	2089	c.1416G>A	c.(1414-1416)GCG>GCA	p.A472A	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	472	Poly-Glu.				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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				cctcctcctccgcctcttcct	0.299													T	72992629	C	T	72992629	2	4	198	1	0	0	0	0	0	0	0	1	17631	639	23	1		1	ZFHX3	16	72992629	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1120	72992629	17362124	1085	110174											
ADAMTS18	170692	broad.mit.edu	37	chr16	77359782	77359782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttccacttttgtatagggTttccactggtagaaccatcc	7	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:77359782T>G	uc002ffc.3	-	13	2432	c.2013A>C	c.(2011-2013)AAA>AAC	p.K671N	ADAMTS18_uc010chc.1_Missense_Mutation_p.K259N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K367N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	671	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTGTATAGGGTTTCCACTGGT	0.378													G	77359782	T	G	77359782	3	3	198	1	0	0	0	0	1	0	0	0	263	1722	60	5	1696	5	ADAMTS18	16	77359782	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	4367153	77359782	12994971	1086	110175											
ATMIN	23300	broad.mit.edu	37	chr16	81076065	81076065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatctaccgaactgggcaCgagatacctgcagaacacag	9	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:81076065C>T	uc002ffz.1	+	3	660	c.642C>T	c.(640-642)CAC>CAT	p.H214H	ATMIN_uc002fga.2_Silent_p.H56H|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Silent_p.H56H	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	214					response to DNA damage stimulus	nucleus	zinc ion binding				0						GAACTGGGCACGAGATACCTG	0.517													T	81076065	C	T	81076065	2	4	198	1	0	0	0	0	0	0	0	1	1110	535	19	1		1	ATMIN	16	81076065	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3716283	81076065	9278688	1087	110176											
CDH13	1012	broad.mit.edu	37	chr16	83378575	83378575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgatctttcgggaaggcCcctacatcggccacgtcatg	11	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:83378575C>T	uc002fgx.2	+	6	865	c.745C>T	c.(745-747)CCC>TCC	p.P249S	CDH13_uc010vns.1_Missense_Mutation_p.P296S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Missense_Mutation_p.P210S	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	249	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)		TCGGGAAGGCCCCTACATCGG	0.517													T	83378575	C	T	83378575	3	4	198	1	0	0	0	0	1	0	0	0	3099	623	22	4	767	4	CDH13	16	83378575	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2302510	83378575	6976178	1088	110177											
NECAB2	54550	broad.mit.edu	37	chr16	84005769	84005769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagattttccgccgtgCggacaaaaatggtgagtttc	11	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:84005769C>T	uc002fhd.2	+	2	232	c.215C>T	c.(214-216)GCG>GTG	p.A72V	NECAB2_uc002fhe.2_5'UTR	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	72	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						TTCCGCCGTGCGGACAAAAAT	0.597													T	84005769	C	T	84005769	3	4	198	1	0	0	0	0	1	0	0	0	10305	768	27	1	221	1	NECAB2	16	84005769	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	627194	84005769	6348984	1089	110178											
FOXL1	2300	broad.mit.edu	37	chr16	86612470	86612470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggccgggccgagaccccGcagaagcctccctacagcta	12	17	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:86612470G>A	uc002fjr.2	+	1	356	c.141G>A	c.(139-141)CCG>CCA	p.P47P		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	47					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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			skin(1)	1						CCGAGACCCCGCAGAAGCCTC	0.672													A	86612470	G	A	86612470	2	1	198	1	0	0	0	0	0	0	0	1	6016	1074	38	1		1	FOXL1	16	86612470	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2606701	86612470	3742283	1090	110179											
MVD	4597	broad.mit.edu	37	chr16	88725067	88725067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacacatacctggtcctgGtgcagagtgacgctcaggga	12	12	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:88725067G>A	uc002flg.1	-	2	139	c.132C>T	c.(130-132)CAC>CAT	p.H44H	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	diphosphomevalonate decarboxylase	44					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCTGGTCCTGGTGCAGAGTGA	0.502													A	88725067	G	A	88725067	2	1	198	1	0	0	0	0	0	0	0	1	9994	1252	44	4		4	MVD	16	88725067	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2112597	88725067	1629686	1091	110180											
SNAI3	333929	broad.mit.edu	37	chr16	88748006	88748006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagggagatgcaggcgaCggccgaggagcggtcccagg	21	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:88748006C>T	uc002flj.2	-	2	261	c.193G>A	c.(193-195)GTC>ATC	p.V65I	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	65					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		ATGCAGGCGACGGCCGAGGAG	0.711													T	88748006	C	T	88748006	3	4	198	1	0	0	0	0	1	0	0	0	14828	536	19	1	693	1	SNAI3	16	88748006	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	22939	88748006	1606747	1092	110181											
TUBB3	10381	broad.mit.edu	37	chr16	89986279	89986279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgctggtgctcatggccGtgctgtacgtccacatgctg	12	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:89986279G>A	uc002fpf.2	+	1	1021	c.613G>A	c.(613-615)GTG>ATG	p.V205M	MC1R_uc002fpe.3_Missense_Mutation_p.V205M|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		GCTCATGGCCGTGCTGTACGT	0.647													A	89986279	G	A	89986279	3	1	198	1	0	0	0	0	1	0	0	0	16754	1145	40	1		1	TUBB3	16	89986279	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1238273	89986279	368474	1093	110182											
MYO1C	4641	broad.mit.edu	37	chr17	1378128	1378128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaggttccggaagagaAggtcattgtttttgtccaga	11	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:1378128A>G	uc002fsp.2	-	16	1914	c.1694T>C	c.(1693-1695)CTT>CCT	p.L565P	MYO1C_uc002fsn.2_Missense_Mutation_p.L546P|MYO1C_uc002fso.2_Missense_Mutation_p.L530P|MYO1C_uc010vqj.1_Missense_Mutation_p.L530P|MYO1C_uc010vqk.1_Missense_Mutation_p.L541P	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	565	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				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGGAAGAGAAGGTCATTGTT	0.632													G	1378128	A	G	1378128	3	3	198	1	0	0	0	0	1	0	0	0	10070	72	3	3	1565	3	MYO1C	17	1378128	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08		1378128	79817082	1094	110183											
TSR1	55720	broad.mit.edu	37	chr17	2236284	2236284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccataaaatcctcatGttccatatcatcatattcat	1	13	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:2236284G>A	uc002fuj.2	-	7	2233	c.1276C>T	c.(1276-1278)CAT>TAT	p.H426Y	SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	426	Glu-rich.				ribosome assembly	nucleolus	protein binding			ovary(1)	1						AAATCCTCATGTTCCATATCA	0.448													A	2236284	G	A	2236284	3	1	198	1	0	0	0	0	1	0	0	0	16661	1377	48	4	1174	4	TSR1	17	2236284	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	858156	2236284	78958926	1095	110184											
SPNS3	201305	broad.mit.edu	37	chr17	4352608	4352608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggttctgggcccccaaGtttctgctcgaggcacgcgt	14	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:4352608G>A	uc002fxt.2	+	7	893	c.849G>A	c.(847-849)AAG>AAA	p.K283K	SPNS3_uc002fxu.2_Silent_p.K156K	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	283					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						GGGCCCCCAAGTTTCTGCTCG	0.672													A	4352608	G	A	4352608	2	1	198	1	0	0	0	0	0	0	0	1	15075	1020	36	4		4	SPNS3	17	4352608	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2116324	4352608	76842602	1096	110185											
MED11	400569	broad.mit.edu	37	chr17	4635160	4635160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgcttcagtgcaacacGtggaggcggagctgtcagct	13	12	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:4635160G>A	uc002fyp.2	+	2	237	c.175G>A	c.(175-177)GTG>ATG	p.V59M		NM_001001683	NP_001001683	Q9P086	MED11_HUMAN	mediator complex subunit 11	59					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding				0						AGTGCAACACGTGGAGGCGGA	0.612											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4635160	G	A	4635160	3	1	198	1	0	0	0	0	1	0	0	0	9427	1145	40	1	181	1	MED11	17	4635160	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	282552	4635160	76560050	1097	110186											
NUP88	4927	broad.mit.edu	37	chr17	5314096	5314096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggtgtctgcggctcacGtagtgagtaaattctagcaa	13	7	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:5314096G>A	uc002gbo.1	-	4	633	c.607C>T	c.(607-609)CGT>TGT	p.R203C	NUP88_uc010vsx.1_Missense_Mutation_p.R203C|NUP88_uc010cle.1_Missense_Mutation_p.R203C|NUP88_uc010vsy.1_Missense_Mutation_p.R203C	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	203					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						TGCGGCTCACGTAGTGAGTAA	0.383													A	5314096	G	A	5314096	3	1	198	1	0	0	0	0	1	0	0	0	10771	1145	40	1	1674	1	NUP88	17	5314096	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	678936	5314096	75881114	1098	110187											
BCL6B	255877	broad.mit.edu	37	chr17	6927489	6927489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcccgaagcgagaggcttCgcccctctattggacttcat	11	13	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:6927489C>T	uc002geg.2	+	3	324	c.267C>T	c.(265-267)TTC>TTT	p.F89F	BCL6B_uc010clt.1_Silent_p.F89F	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	89	BTB.					nucleus	zinc ion binding			skin(1)	1						CGAGAGGCTTCGCCCCTCTAT	0.617													T	6927489	C	T	6927489	2	4	198	1	0	0	0	0	0	0	0	1	1377	883	31	1		1	BCL6B	17	6927489	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1613393	6927489	74267721	1099	110188											
KDM6B	23135	broad.mit.edu	37	chr17	7750430	7750430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatctcctataggagcagcGgcactcgctgcctcacccat	8	15	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:7750430G>A	uc002giw.1	+	10	1293	c.917G>A	c.(916-918)CGG>CAG	p.R306Q	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	306	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)|pancreas(1)	2						TAGGAGCAGCGGCACTCGCTG	0.642													A	7750430	G	A	7750430	3	1	198	1	0	0	0	0	1	0	0	0	8138	1116	39	1	943	1	KDM6B	17	7750430	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	822941	7750430	73444780	1100	110189											
KDM6B	23135	broad.mit.edu	37	chr17	7752175	7752175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcagcggcccctagcGcccagggctccccacagccc	9	23	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:7752175G>A	uc002giw.1	+	11	2945	c.2569G>A	c.(2569-2571)GCC>ACC	p.A857T	KDM6B_uc002gix.2_Missense_Mutation_p.A159T	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	857	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)|pancreas(1)	2						GGCCCCTAGCGCCCAGGGCTC	0.706													A	7752175	G	A	7752175	3	1	198	1	0	0	0	0	1	0	0	0	8138	1087	38	1	2599	1	KDM6B	17	7752175	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1745	7752175	73443035	1101	110190											
PFAS	5198	broad.mit.edu	37	chr17	8167585	8167586	+	Frame_Shift_Ins	INS	-	-	C													agaaatggccagggggatgcINSccccccgacacccctgccaa					rs138697840	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:8167584_8167585G>GC	uc002gkr.3	+	15	1987_1988	c.1846_1847G>GC	c.(1846-1848)gccfs	p.A616fs	PFAS_uc010vuv.2_Frame_Shift_Ins_p.A192fs|PFAS_uc010cnw.1_Frame_Shift_Ins_p.A116fs|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	616					'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)	CCAGGGGGATGCCCCCCCGACA	0.594													C	8167586	-	C	8167585	7	5	198	1	0	1	1	0	0	0	0	0	11754	739	26	0	1905	0	PFAS	17	8167585	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	415410	8167585	73027625	1102	110191											
PIK3R6	146850	broad.mit.edu	37	chr17	8726318	8726318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagatgcttacctttgGggaatttagaatcttggatc	12	6	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:8726318G>T	uc002glq.1	-	15	1952	c.1712C>A	c.(1711-1713)CCC>CAC	p.P571H	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	571					platelet activation	cytosol					0						CTTACCTTTGGGGAATTTAGA	0.493													T	8726318	G	T	8726318	3	4	198	1	0	0	0	0	1	0	0	0	11923	1232	43	5	575	5	PIK3R6	17	8726318	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	558733	8726318	72468892	1103	110192											
MYH13	8735	broad.mit.edu	37	chr17	10222241	10222241	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaagctcggccacactatCtgcttgcttcttcctcaggg	8	16	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10222241C>A	uc002gmk.1	-	27	3694	c.3604G>T	c.(3604-3606)GAT>TAT	p.D1202Y		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1202	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCCACACTATCTGCTTGCTTC	0.572													A	10222241	C	A	10222241	3	1	198	1	0	0	0	0	1	0	0	0	10032	913	32	5	2272	5	MYH13	17	10222241	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1495923	10222241	70972969	1104	110193											
MYH4	4622	broad.mit.edu	37	chr17	10362680	10362680	+	Frame_Shift_Del	DEL	A	A	-													gcacgaacatgtggtggttgAaaaactgttgcagtttctcg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10362680delA	uc002gmn.2	-	15	1586	c.1475delT	c.(1474-1476)TTCfs	p.F492fs	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	492	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			ovary(10)|skin(2)|central_nervous_system(1)	13						GTGGTGGTTGAAAAACTGTTG	0.468													-	10362680	A	-	10362680	7	5	198	1	0	1	0	1	0	0	0	0	10037	246	9	0	4448	0	MYH4	17	10362680	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	140439	10362680	70832530	1105	110194											
MYH1	4619	broad.mit.edu	37	chr17	10398313	10398313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagctgctcagcctcatccaGacgatgctgcaggtccttca	9	15	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10398313G>A	uc002gmo.2	-	37	5495	c.5401C>T	c.(5401-5403)CTG>TTG	p.L1801L	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1801	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GCCTCATCCAGACGATGCTGC	0.542													A	10398313	G	A	10398313	2	1	198	1	0	0	0	0	0	0	0	1	10029	933	33	4		4	MYH1	17	10398313	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	35633	10398313	70796897	1106	110195											
MYH2	4620	broad.mit.edu	37	chr17	10428368	10428368	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggatctttccctcttcAtgttcaagagatgccttaat	7	11	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10428368A>G	uc010coi.2	-	34	4805	c.4677T>C	c.(4675-4677)CAT>CAC	p.H1559H	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.H1559H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1559	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTCCCTCTTCATGTTCAAGAG	0.408													G	10428368	A	G	10428368	2	3	198	1	0	0	0	0	0	0	0	1	10035	214	8	3		3	MYH2	17	10428368	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	30055	10428368	70766842	1107	110196											
MYH2	4620	broad.mit.edu	37	chr17	10428789	10428789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaagtttttgttctctcGcttcagggtttctagctgat	9	8	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10428789G>A	uc010coi.2	-	32	4644	c.4516C>T	c.(4516-4518)CGA>TGA	p.R1506*	uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.R1506*|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1506	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1506*(1)		ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTGTTCTCTCGCTTCAGGGTT	0.428													A	10428789	G	A	10428789	4	1	198	1	0	0	0	0	0	1	0	0	10035	1095	38	1	1345	1	MYH2	17	10428789	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	421	10428789	70766421	1108	110197											
DNAH9	1770	broad.mit.edu	37	chr17	11572475	11572475	+	Frame_Shift_Del	DEL	G	G	-													tctctggagtctggagtgaaGgggggtttctgtgacattgt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:11572474_11572474AG>A	uc002gne.3	+	15	2893	c.2825_2825AG>A	c.(2824-2826)aagfs	p.K942fs	DNAH9_uc010coo.3_Frame_Shift_Del_p.K236fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	942	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)		TCTGGAGTGAAGGGGGGTTTC	0.478													-	11572475	G	-	11572475	7	5	198	1	0	1	0	1	0	0	0	0	4608	991	35	0	2888	0	DNAH9	17	11572475	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1143686	11572475	69622735	1109	110198											
NCOR1	9611	broad.mit.edu	37	chr17	15975514	15975514	+	Frame_Shift_Del	DEL	C	C	-													ttgaggtcagaatgaggactCcccctgggtaatgctcggca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:15975513_15975513TC>T	uc002gpo.3	-	28	4110	c.3841_3841GA>A	c.(3841-3843)agtfs	p.S1281fs	NCOR1_uc002gpn.3_Frame_Shift_Del_p.S1297fs|NCOR1_uc002gpp.1_Frame_Shift_Del_p.S1188fs|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Frame_Shift_Del_p.S189fs|NCOR1_uc010vwc.2_Frame_Shift_Del_p.S92fs	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1281	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			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)		GAATGAGGACTCCCCCTGGGT	0.393													-	15975514	C	-	15975514	7	5	198	1	0	1	0	1	0	0	0	0	10235	842	30	0	3554	0	NCOR1	17	15975514	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	4403039	15975514	65219696	1110	110199											
FLCN	201163	broad.mit.edu	37	chr17	17117098	17117098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcggacgcacccaggatGctcagcagcttctgtgtgtc	11	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:17117098G>A	uc002gra.3	-	14	2115	c.1611C>T	c.(1609-1611)AGC>AGT	p.S537S	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	537					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						CACCCAGGATGCTCAGCAGCT	0.507									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				A	17117098	G	A	17117098	2	1	198	1	0	0	0	0	0	0	0	1	5921	1310	46	2		2	FLCN	17	17117098	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1141584	17117098	64078112	1111	110200											
LLGL1	3996	broad.mit.edu	37	chr17	18133328	18133328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcgcatcatggccatcgGcaccaggtctggggctgtca	12	13	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:18133328G>A	uc002gsp.2	+	2	216	c.155G>A	c.(154-156)GGC>GAC	p.G52D		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	52	WD 1.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					ATGGCCATCGGCACCAGGTCT	0.622													A	18133328	G	A	18133328	3	1	198	1	0	0	0	0	1	0	0	0	8833	1203	42	2	161	2	LLGL1	17	18133328	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1016230	18133328	63061882	1112	110201											
LLGL1	3996	broad.mit.edu	37	chr17	18138263	18138263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctggacttcacttcccGcatcatcgacttcttcacag	7	15	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:18138263G>A	uc002gsp.2	+	9	1077	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	339					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TTCACTTCCCGCATCATCGAC	0.612													A	18138263	G	A	18138263	3	1	198	1	0	0	0	0	1	0	0	0	8833	1087	38	1	1050	1	LLGL1	17	18138263	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4935	18138263	63056947	1113	110202											
FAM83G	644815	broad.mit.edu	37	chr17	18881935	18881935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccttgacaagtgcgtaCttggggttgacgagcttctt	13	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:18881935C>T	uc002guw.2	-	5	1211	c.1044G>A	c.(1042-1044)AAG>AAA	p.K348K	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	348										ovary(1)|central_nervous_system(1)	2						CAAGTGCGTACTTGGGGTTGA	0.622													T	18881935	C	T	18881935	2	4	198	1	0	0	0	0	0	0	0	1	5639	564	20	4		4	FAM83G	17	18881935	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	743672	18881935	62313275	1114	110203											
SLC47A1	55244	broad.mit.edu	37	chr17	19452949	19452949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttcgttatttaggCttacccagacctatgtcacg	6	10	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:19452949C>T	uc002gvy.1	+	5	543	c.457C>T	c.(457-459)CTT>TTT	p.L153F	SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.L153F|SLC47A1_uc010vyz.1_Missense_Mutation_p.L130F|SLC47A1_uc010cqp.1_Missense_Mutation_p.L153F|SLC47A1_uc010cqq.1_Silent_p.G4G	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	153	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GTTATTTAGGCTTACCCAGAC	0.438													T	19452949	C	T	19452949	3	4	198	1	0	0	0	0	1	0	0	0	14647	811	28	2	475	2	SLC47A1	17	19452949	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	571014	19452949	61742261	1115	110204											
SUPT6H	6830	broad.mit.edu	37	chr17	27001457	27001457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccacaagaagagaaaacGcagtgagtagtctgtcgttg	13	7	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27001457G>A	uc002hby.2	+	3	356	c.266G>A	c.(265-267)CGC>CAC	p.R89H	SUPT6H_uc010crt.2_Missense_Mutation_p.R89H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	89	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AAGAGAAAACGCAGTGAGTAG	0.498													A	27001457	G	A	27001457	3	1	198	1	0	0	0	0	1	0	0	0	15397	1087	38	1	272	1	SUPT6H	17	27001457	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7548508	27001457	54193753	1116	110205											
NEK8	284086	broad.mit.edu	37	chr17	27064381	27064381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcacctatctctgacCggtacagccctgagcttcgc	8	16	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27064381C>T	uc002hcp.2	+	5	676	c.676C>T	c.(676-678)CGG>TGG	p.R226W		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	226	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					TATCTCTGACCGGTACAGCCC	0.587													T	27064381	C	T	27064381	3	4	198	1	0	0	0	0	1	0	0	0	10330	643	23	1	694	1	NEK8	17	27064381	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	62924	27064381	54130829	1117	110206											
FLOT2	2319	broad.mit.edu	37	chr17	27207775	27207775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgcacagaggcaggcaGctcggccagcagtcggttca	15	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27207775G>A	uc002hdc.2	-	10	1327	c.1204C>T	c.(1204-1206)CTG>TTG	p.L402L		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	402					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	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)			GAGGCAGGCAGCTCGGCCAGC	0.592													A	27207775	G	A	27207775	2	1	198	1	0	0	0	0	0	0	0	1	5937	962	34	2		2	FLOT2	17	27207775	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	143394	27207775	53987435	1118	110207											
SSH2	85464	broad.mit.edu	37	chr17	27977813	27977813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgacattcaagatatacCgtaccctgcaaggaaaccaa	8	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27977813C>T	uc002heo.1	-	12	1004	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	SSH2_uc010wbh.1_Missense_Mutation_p.R362Q|SSH2_uc002hep.1_Missense_Mutation_p.R335Q	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	335	Tyrosine-protein phosphatase.				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			skin(2)	2						CAAGATATACCGTACCCTGCA	0.403													T	27977813	C	T	27977813	3	4	198	1	0	0	0	0	1	0	0	0	15184	652	23	1	3283	1	SSH2	17	27977813	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	770038	27977813	53217397	1119	110208											
EFCAB5	374786	broad.mit.edu	37	chr17	28296061	28296062	+	Frame_Shift_Ins	INS	-	-	A													gaactagaaaaaaaggctgaINSaaaaaaactccctagggata							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:28296060_28296061G>GA	uc002het.3	+	3	634_635	c.442_443G>GA	c.(442-444)gaafs	p.E148fs	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.2_Frame_Shift_Ins_p.E92fs|EFCAB5_uc010wbk.2_Intron|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Frame_Shift_Ins_p.E27fs|EFCAB5_uc010csf.3_Frame_Shift_Ins_p.E27fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	148							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						AAAAAAGGCTGAAAAAAAACTC	0.371													A	28296062	-	A	28296061	7	5	198	1	0	1	1	0	0	0	0	0	4938	246	9	0	457	0	EFCAB5	17	28296061	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	318248	28296061	52899149	1120	110209											
EFCAB5	374786	broad.mit.edu	37	chr17	28296322	28296322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaatgtctggttaccAgaggttgatgaaagaagtca	12	7	2	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:28296322A>G	uc002het.2	+	4	896	c.704A>G	c.(703-705)CAG>CGG	p.Q235R	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Missense_Mutation_p.Q179R|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.Q114R|EFCAB5_uc010csf.2_Missense_Mutation_p.Q114R	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	235							calcium ion binding			ovary(1)|skin(1)	2						TCTGGTTACCAGAGGTTGATG	0.368													G	28296322	A	G	28296322	3	3	198	1	0	0	0	0	1	0	0	0	4938	188	7	3	718	3	EFCAB5	17	28296322	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	261	28296322	52898888	1121	110210											
ACCN1	40	broad.mit.edu	37	chr17	31416001	31416001	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcactcctgcttcaaatgtCgtttcctctgaaagaacaaa	5	11	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:31416001C>T	uc002hhu.2	-	3	988	c.714G>A	c.(712-714)ACG>ACA	p.T238T	ACCN1_uc002hht.2_Silent_p.T289T	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	238	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	CTTCAAATGTCGTTTCCTCTG	0.493													T	31416001	C	T	31416001	2	4	198	1	0	0	0	0	0	0	0	1	128	871	31	1		1	ACCN1	17	31416001	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	3119679	31416001	49779209	1122	110211											
SLFN5	162394	broad.mit.edu	37	chr17	33586247	33586247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttatttgatagaaagCggcttcagtatctggaaaaa	9	6	2	2	rs139273106		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:33586247C>T	uc002hjf.3	+	2	655	c.538C>T	c.(538-540)CGG>TGG	p.R180W	SLFN5_uc002hje.2_Missense_Mutation_p.R180W|SLFN5_uc010wcg.1_Missense_Mutation_p.R180W	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	180					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAGAAAGCGGCTTCAGTA	0.403													T	33586247	C	T	33586247	3	4	198	1	0	0	0	0	1	0	0	0	14737	759	27	1	540	1	SLFN5	17	33586247	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2170246	33586247	47608963	1123	110212											
RDM1	201299	broad.mit.edu	37	chr17	34251608	34251608	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcccagtgaaaacagacCttcctccaccttatccatag	4	16	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:34251608C>A	uc002hkh.2	-	4	617	c.568G>T	c.(568-570)GGA>TGA	p.G190*	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Nonsense_Mutation_p.G167*|RDM1_uc002hkg.3_Nonsense_Mutation_p.E167*|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Nonsense_Mutation_p.E190*|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Nonsense_Mutation_p.G167*|RDM1_uc002hki.2_Nonsense_Mutation_p.G190*	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	190					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAAACAGACCTTCCTCCACC	0.453								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	34251608	C	A	34251608	4	1	198	1	0	0	0	0	0	1	0	0	13197	695	24	5	346	5	RDM1	17	34251608	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	665361	34251608	46943602	1124	110213											
GPR179	440435	broad.mit.edu	37	chr17	36499438	36499438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccacgcgcttcatagcGctcactgcaattcacctgtg	8	16	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:36499438G>A	uc002hpz.2	-	1	256	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	79	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTTCATAGCGCTCACTGCAA	0.627													A	36499438	G	A	36499438	3	1	198	1	0	0	0	0	1	0	0	0	6674	1087	38	1	6912	1	GPR179	17	36499438	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2247830	36499438	44695772	1125	110214											
CDK12	51755	broad.mit.edu	37	chr17	37657601	37657601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccatatcaagtcgttcAtgaaacagctaatggaagga	10	7	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:37657601A>G	uc010cvv.2	+	6	3104	c.2518A>G	c.(2518-2520)ATG>GTG	p.M840V	CDK12_uc010wef.1_Missense_Mutation_p.M839V|CDK12_uc002hrw.3_Missense_Mutation_p.M840V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	840	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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						CAAGTCGTTCATGAAACAGCT	0.383										TCGA Ovarian(9;0.13)			G	37657601	A	G	37657601	3	3	198	1	0	0	0	0	1	0	0	0	3128	217	8	3	2540	3	CDK12	17	37657601	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1158163	37657601	43537609	1126	110215											
PSMD3	5709	broad.mit.edu	37	chr17	38153813	38153813	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggagatggcagaagaTgatgatgacagcttcccttg	13	8	0	6			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:38153813T>A	uc002htn.1	+	12	1748	c.1584T>A	c.(1582-1584)GAT>GAA	p.D528E	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.D429E	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	528					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 complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					TGGCAGAAGATGATGATGACA	0.617													A	38153813	T	A	38153813	3	1	198	1	0	0	0	0	1	0	0	0	12699	1461	51	5	1630	5	PSMD3	17	38153813	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	496212	38153813	43041397	1127	110216											
KRT27	342574	broad.mit.edu	37	chr17	38933343	38933343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgagagaactttgccacgagGatctatctcttcaacaactg	8	10	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:38933343G>T	uc002hvg.2	-	8	1329	c.1288C>A	c.(1288-1290)CCT>ACT	p.P430T		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	430	Tail.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TTGCCACGAGGATCTATCTCT	0.373													T	38933343	G	T	38933343	3	4	198	1	0	0	0	0	1	0	0	0	8464	1174	41	5	95	5	KRT27	17	38933343	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	779530	38933343	42261867	1128	110217											
KRT15	3866	broad.mit.edu	37	chr17	39674981	39674981	+	Frame_Shift_Del	DEL	C	C	-													ccacctcccccagagagactCcccccaccaaagccacctcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:39674980_39674980TC>T	uc002hwy.3	-	0	291	c.100_100GA>A	c.(100-102)agtfs	p.S34fs	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	34	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCAGAGAGACTCCCCCCACCA	0.587													-	39674981	C	-	39674981	7	5	198	1	0	1	0	1	0	0	0	0	8452	842	30	0	1303	0	KRT15	17	39674981	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	741638	39674981	41520229	1129	110218											
HAP1	9001	broad.mit.edu	37	chr17	39888507	39888507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggctgagcccagcaggGcttccagcttgctgttctcc	11	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:39888507G>A	uc002hxm.1	-	3	701	c.689C>T	c.(688-690)GCC>GTC	p.A230V	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.A230V|HAP1_uc002hxo.1_Missense_Mutation_p.A238V|HAP1_uc002hxp.1_Missense_Mutation_p.A230V	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	230	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCCCAGCAGGGCTTCCAGCTT	0.602													A	39888507	G	A	39888507	3	1	198	1	0	0	0	0	1	0	0	0	6953	1203	42	2	1206	2	HAP1	17	39888507	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	213526	39888507	41306703	1130	110219											
KLHL10	317719	broad.mit.edu	37	chr17	39994259	39994259	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagatgagtgcgatggcCtgtgagatcttcaacgagct	14	7	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:39994259C>A	uc010cxr.2	+	1	217	c.75C>A	c.(73-75)GCC>GCA	p.A25A	NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_5'Flank|NT5C3L_uc002hyc.3_5'Flank|NT5C3L_uc002hyd.3_5'Flank|NT5C3L_uc002hxy.3_5'Flank|NT5C3L_uc002hxz.3_5'Flank|NT5C3L_uc002hya.3_5'Flank|KLHL10_uc010wfv.1_Silent_p.A25A|KLHL10_uc010wfw.1_Translation_Start_Site	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	25						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GTGCGATGGCCTGTGAGATCT	0.562													A	39994259	C	A	39994259	2	1	198	1	0	0	0	0	0	0	0	1	8366	668	24	5		5	KLHL10	17	39994259	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	105752	39994259	41200951	1131	110220											
HSD17B1	3292	broad.mit.edu	37	chr17	40705607	40705607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggttcgggacgcgtgtTggtgaccgggagcgtgggag	22	8	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:40705607T>C	uc002hzw.2	+	3	1384	c.416T>C	c.(415-417)TTG>TCG	p.L139S	HSD17B1_uc002hzx.2_Missense_Mutation_p.L139S|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'UTR|HSD17B1_uc010cyi.2_Missense_Mutation_p.L170S	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	139					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GGACGCGTGTTGGTGACCGGG	0.617													C	40705607	T	C	40705607	3	2	198	1	0	0	0	0	1	0	0	0	7378	1821	63	3	426	3	HSD17B1	17	40705607	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	711348	40705607	40489603	1132	110221											
EZH1	2145	broad.mit.edu	37	chr17	40856673	40856673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcatagacctttccgCgtcgatcagcctcatcctga	7	13	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:40856673C>T	uc002iaz.2	-	18	2109	c.1964G>A	c.(1963-1965)CGC>CAC	p.R655H	EZH1_uc002iba.2_Missense_Mutation_p.R646H|EZH1_uc010wgt.1_Missense_Mutation_p.R585H|EZH1_uc010wgu.1_Missense_Mutation_p.R661H|EZH1_uc010wgv.1_Missense_Mutation_p.R615H|EZH1_uc010wgw.1_Missense_Mutation_p.R516H|EZH1_uc010cyp.2_Missense_Mutation_p.R556H|EZH1_uc010cyq.2_Missense_Mutation_p.R572H|EZH1_uc010cyo.1_Missense_Mutation_p.R318H	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	655	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GACCTTTCCGCGTCGATCAGC	0.448													T	40856673	C	T	40856673	3	4	198	1	0	0	0	0	1	0	0	0	5333	768	27	1	295	1	EZH1	17	40856673	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	151066	40856673	40338537	1133	110222											
UBTF	7343	broad.mit.edu	37	chr17	42293150	42293150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggaaataaggggtcaGgggcttctttgggaagtctg	17	5	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:42293150G>T	uc002igb.2	-	4	413	c.346C>A	c.(346-348)CTG>ATG	p.L116M	UBTF_uc002igc.2_Missense_Mutation_p.L116M|UBTF_uc010czs.2_Missense_Mutation_p.L116M|UBTF_uc002igd.2_Missense_Mutation_p.L116M|UBTF_uc010czt.2_Missense_Mutation_p.L116M|UBTF_uc002ige.2_Missense_Mutation_p.L116M	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	116	HMG box 1.				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				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAAGGGGTCAGGGGCTTCTTT	0.502													T	42293150	G	T	42293150	3	4	198	1	0	0	0	0	1	0	0	0	16906	991	35	5	2016	5	UBTF	17	42293150	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1436477	42293150	38902060	1134	110223											
GPATCH8	23131	broad.mit.edu	37	chr17	42476878	42476878	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgaggaatggcgccggccaGaccttgagcggctgcgggaa	18	11	0	2	rs145134773		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:42476878G>T	uc002igw.1	-	8	2631	c.2567C>A	c.(2566-2568)TCT>TAT	p.S856Y	GPATCH8_uc002igv.1_Missense_Mutation_p.S778Y|GPATCH8_uc010wiz.1_Missense_Mutation_p.S778Y	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	856	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCGCCGGCCAGACCTTGAGCG	0.562													T	42476878	G	T	42476878	3	4	198	1	0	0	0	0	1	0	0	0	6594	942	33	5	1945	5	GPATCH8	17	42476878	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	183728	42476878	38718332	1135	110224											
ADAM11	4185	broad.mit.edu	37	chr17	42837126	42837126	+	Frame_Shift_Del	DEL	G	G	-													tcctgctggagctctgcgatGggggggcttaccccagctgg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:42837125_42837125TG>T	uc002ihh.3	+	1	97	c.97_97TG>T	c.(97-99)tggfs	p.W33fs	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	33					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCTCTGCGATGGGGGGGCTT	0.662													-	42837126	G	-	42837126	7	5	198	1	0	1	0	1	0	0	0	0	235	1357	47	0	104	0	ADAM11	17	42837126	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	360248	42837126	38358084	1136	110225											
KIF18B	146909	broad.mit.edu	37	chr17	43009431	43009431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagtcctacctcctcaGctgggccttcatcctcatcc	5	20	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:43009431G>A	uc010wji.1	-	10	1519	c.1418C>T	c.(1417-1419)GCT>GTT	p.A473V	KIF18B_uc002iht.2_Missense_Mutation_p.A473V|KIF18B_uc010wjh.1_Missense_Mutation_p.A461V	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				TACCTCCTCAGCTGGGCCTTC	0.587													A	43009431	G	A	43009431	3	1	198	1	0	0	0	0	1	0	0	0	8281	971	34	2	1176	2	KIF18B	17	43009431	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	172305	43009431	38185779	1137	110226											
NSF	4905	broad.mit.edu	37	chr17	44828940	44828940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaagaaggtctggatAggaatcaagaagttactaat	12	3	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:44828940A>G	uc002iku.2	+	19	2219	c.2115A>G	c.(2113-2115)ATA>ATG	p.I705M	NSF_uc010wke.1_Missense_Mutation_p.I611M|NSF_uc010wkf.1_Missense_Mutation_p.I611M|NSF_uc010wkg.1_Missense_Mutation_p.I700M	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	705					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGGTCTGGATAGGAATCAAGA	0.423													G	44828940	A	G	44828940	3	3	198	1	0	0	0	0	1	0	0	0	10671	410	15	3	2189	3	NSF	17	44828940	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1819509	44828940	36366270	1138	110227											
WNT9B	7484	broad.mit.edu	37	chr17	44950021	44950021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgccggagggagccCggcctggctgagaccctgag	16	14	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:44950021C>T	uc002ikw.1	+	2	253	c.216C>T	c.(214-216)CCC>CCT	p.P72P	WNT9B_uc002ikx.1_Silent_p.P72P	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	72					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGAGGGAGCCCGGCCTGGCTG	0.682													T	44950021	C	T	44950021	2	4	198	1	0	0	0	0	0	0	0	1	17396	639	23	1		1	WNT9B	17	44950021	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	121081	44950021	36245189	1139	110228											
C17orf57	124989	broad.mit.edu	37	chr17	45517967	45517967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgatagttaaagcacagGtaagtaagaagcaatacaat	8	5	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:45517967G>A	uc002iln.2	+	25	3220	c.2809G>A	c.(2809-2811)GTA>ATA	p.V937I		NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	937							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						TAAAGCACAGGTAAGTAAGAA	0.303													A	45517967	G	A	45517967	3	1	198	1	0	0	0	0	1	0	0	0	1865	1261	44	4	2895	4	C17orf57	17	45517967	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	567946	45517967	35677243	1140	110229											
TBKBP1	9755	broad.mit.edu	37	chr17	45787930	45787930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgggtttccctgtcGggtacccggatgatgccctc	13	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:45787930G>A	uc002ilu.2	+	9	2635	c.1786G>A	c.(1786-1788)GGG>AGG	p.G596R		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	596					innate immune response						0						TTTCCCTGTCGGGTACCCGGA	0.592													A	45787930	G	A	45787930	3	1	198	1	0	0	0	0	1	0	0	0	15635	1116	39	1	1820	1	TBKBP1	17	45787930	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	269963	45787930	35407280	1141	110230											
SP6	80320	broad.mit.edu	37	chr17	45925335	45925335	+	Frame_Shift_Del	DEL	C	C	-													gctggtggtctccgacgtagCcccccaagcccgcctgaagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:45925335delC	uc002img.1	-	2	793	c.461delG	c.(460-462)GGCfs	p.G154fs	SP6_uc002imh.1_Frame_Shift_Del_p.G154fs	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCCGACGTAGCCCCCCAAGCC	0.711													-	45925335	C	-	45925335	7	5	198	1	0	1	0	1	0	0	0	0	14968	739	26	0	673	0	SP6	17	45925335	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	137405	45925335	35269875	1142	110231											
CBX1	10951	broad.mit.edu	37	chr17	46154355	46154355	+	Frame_Shift_Del	DEL	T	T	-													tccactttcttcttgttttgTtttttccccatagtgcccgc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:46154354_46154354GT>G	uc002ind.4	-	1	494	c.13_13AC>C	c.(13-15)caafs	p.Q5fs	CBX1_uc002ine.4_Frame_Shift_Del_p.Q5fs	NM_006807	NP_006798	P83916	CBX1_HUMAN	Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.	5						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TTCTTGTTTTGTTTTTTCCCC	0.443													-	46154355	T	-	46154355	7	5	198	1	0	1	0	1	0	0	0	0	2717	1722	60	0	561	0	CBX1	17	46154355	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	229020	46154355	35040855	1143	110232											
XYLT2	64132	broad.mit.edu	37	chr17	48434049	48434049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggctcagtgatgtcAtgctcactgcttacacagcc	10	13	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:48434049A>G	uc002iqo.2	+	8	1769	c.1660A>G	c.(1660-1662)ATG>GTG	p.M554V	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	554	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CAGTGATGTCATGCTCACTGC	0.652													G	48434049	A	G	48434049	3	3	198	1	0	0	0	0	1	0	0	0	17461	217	8	3	1690	3	XYLT2	17	48434049	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	2279694	48434049	32761161	1144	110233											
ABCC3	8714	broad.mit.edu	37	chr17	48753735	48753735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcacaacaagatacgctCgccacagtccttctttgaca	7	14	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:48753735C>T	uc002isl.2	+	23	3244	c.3164C>T	c.(3163-3165)TCG>TTG	p.S1055L	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1055	Cytoplasmic (By similarity).|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			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAGATACGCTCGCCACAGTCC	0.577													T	48753735	C	T	48753735	3	4	198	1	0	0	0	0	1	0	0	0	54	893	31	1	3338	1	ABCC3	17	48753735	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	319686	48753735	32441475	1145	110234											
SUPT4H1	6827	broad.mit.edu	37	chr17	56424577	56424577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgaccagtgactgacacCgcatatacacctggcttaaa	9	12	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:56424577C>T	uc002iwe.1	-	4	325	c.258G>A	c.(256-258)GCG>GCA	p.A86A	uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_Intron|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	86					chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGACTGACACCGCATATACAC	0.274													T	56424577	C	T	56424577	2	4	198	1	0	0	0	0	0	0	0	1	15395	639	23	1		1	SUPT4H1	17	56424577	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	7670842	56424577	24770633	1146	110235											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	198	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	10584	56435161	24760049	1147	110236											
RNF43	54894	broad.mit.edu	37	chr17	56436149	56436149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggttcttggtaagatcGagagggtcccagggactggg	16	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:56436149G>A	uc002iwf.2	-	8	2944	c.988C>T	c.(988-990)CGA>TGA	p.R330*	RNF43_uc010wnv.1_Nonsense_Mutation_p.R289*|RNF43_uc002iwh.3_Nonsense_Mutation_p.R330*|RNF43_uc002iwg.3_Nonsense_Mutation_p.R330*|RNF43_uc010dcw.2_Nonsense_Mutation_p.R203*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	330	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTAAGATCGAGAGGGTCCC	0.522													A	56436149	G	A	56436149	4	1	198	1	0	0	0	0	0	1	0	0	13495	1066	37	1	1371	1	RNF43	17	56436149	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	988	56436149	24759061	1148	110237											
RNF43	54894	broad.mit.edu	37	chr17	56437515	56437515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcccacctcctacctgtgAtgttgaacatgcagaggggg	13	11	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:56437515A>G	uc002iwf.2	-	7	2903	c.947T>C	c.(946-948)ATC>ACC	p.I316T	RNF43_uc010wnv.1_Missense_Mutation_p.I275T|RNF43_uc002iwh.3_Missense_Mutation_p.I316T|RNF43_uc002iwg.3_Missense_Mutation_p.I316T|RNF43_uc010dcw.2_Missense_Mutation_p.I189T	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	316	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTACCTGTGATGTTGAACAT	0.557													G	56437515	A	G	56437515	3	3	198	1	0	0	0	0	1	0	0	0	13495	333	12	3	1416	3	RNF43	17	56437515	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1366	56437515	24757695	1149	110238											
PPM1E	22843	broad.mit.edu	37	chr17	57058168	57058168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagtggcacagattcAggtttaatccaaagttttat	8	6	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:57058168A>G	uc002iwx.2	+	7	2171	c.2044A>G	c.(2044-2046)AGG>GGG	p.R682G	PPM1E_uc010ddd.2_Missense_Mutation_p.R445G	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	691					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GCACAGATTCAGGTTTAATCC	0.428													G	57058168	A	G	57058168	3	3	198	1	0	0	0	0	1	0	0	0	12338	179	7	3	2070	3	PPM1E	17	57058168	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	620653	57058168	24137042	1150	110239											
DHX40	79665	broad.mit.edu	37	chr17	57684403	57684403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgttttcagatggaatatCgaaagacgtcttaaagaaaa	8	4	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:57684403C>T	uc002ixn.1	+	18	2357	c.2210C>T	c.(2209-2211)TCG>TTG	p.S737L	DHX40_uc010woe.1_Missense_Mutation_p.S660L|DHX40_uc010wof.1_Missense_Mutation_p.S252L	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	737							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATGGAATATCGAAAGACGTC	0.373													T	57684403	C	T	57684403	3	4	198	1	0	0	0	0	1	0	0	0	4512	893	31	1	2280	1	DHX40	17	57684403	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	626235	57684403	23510807	1151	110240											
CLTC	1213	broad.mit.edu	37	chr17	57743872	57743872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattctaggcaatcagatgtTcacacattatgaccgggctc	8	10	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:57743872T>C	uc002ixq.1	+	12	2257	c.1814T>C	c.(1813-1815)TTC>TCC	p.F605S	CLTC_uc002ixp.2_Missense_Mutation_p.F605S|CLTC_uc002ixr.1_Missense_Mutation_p.F609S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	605	Heavy chain arm.|Distal 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)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATCAGATGTTCACACATTAT	0.388			T	ALK|TFE3	ALCL|renal 								C	57743872	T	C	57743872	3	2	198	1	0	0	0	0	1	0	0	0	3566	1783	62	3	1860	3	CLTC	17	57743872	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	59469	57743872	23451338	1152	110241											
HEATR6	63897	broad.mit.edu	37	chr17	58136828	58136828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttccagactttggtcaGcaggctgagttttagacgat	12	8	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:58136828G>A	uc002iyk.1	-	11	1695	c.1678C>T	c.(1678-1680)CTG>TTG	p.L560L	HEATR6_uc010ddk.1_Silent_p.L99L|HEATR6_uc010wos.1_Silent_p.L392L	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	560	HEAT 4.						binding			ovary(1)|skin(1)	2	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)			ACTTTGGTCAGCAGGCTGAGT	0.388													A	58136828	G	A	58136828	2	1	198	1	0	0	0	0	0	0	0	1	7033	962	34	2		2	HEATR6	17	58136828	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	392956	58136828	23058382	1153	110242											
MRC2	9902	broad.mit.edu	37	chr17	60741989	60741989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcagagtcaccccgGcttgcaataccagcctccct	10	16	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:60741989G>A	uc002jad.2	+	2	601	c.199G>A	c.(199-201)GCT>ACT	p.A67T	MRC2_uc002jac.2_Missense_Mutation_p.A67T	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	67	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGTCACCCCGGCTTGCAATAC	0.632													A	60741989	G	A	60741989	3	1	198	1	0	0	0	0	1	0	0	0	9758	1203	42	2	205	2	MRC2	17	60741989	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2605161	60741989	20453221	1154	110243											
STRADA	92335	broad.mit.edu	37	chr17	61781922	61781922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggcagggcactgtgccGttcagtttctctagcagcat	11	11	2	0	rs147552949		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:61781922G>A	uc002jbm.2	-	11	1038	c.879C>T	c.(877-879)AAC>AAT	p.N293N	STRADA_uc002jbn.2_Silent_p.N235N|STRADA_uc002jbo.2_Silent_p.N256N|STRADA_uc002jbp.2_Silent_p.N256N|STRADA_uc002jbq.2_Silent_p.N235N|STRADA_uc010wpq.1_Silent_p.N249N|STRADA_uc010wpr.1_Silent_p.N264N|STRADA_uc010ddw.2_Silent_p.N264N|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	293	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			ovary(1)	1						GCACTGTGCCGTTCAGTTTCT	0.632													A	61781922	G	A	61781922	2	1	198	1	0	0	0	0	0	0	0	1	15323	1136	40	1		1	STRADA	17	61781922	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1039933	61781922	19413288	1155	110244											
CCDC45	90799	broad.mit.edu	37	chr17	62525505	62525505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagagaaaaaggcagcGcaagccaagagaaacagatg	13	7	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:62525505G>A	uc002jem.2	+	12	1464	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.R305H	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	469						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AAAAGGCAGCGCAAGCCAAGA	0.498													A	62525505	G	A	62525505	3	1	198	1	0	0	0	0	1	0	0	0	2816	1087	38	1	1452	1	CCDC45	17	62525505	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	743583	62525505	18669705	1156	110245											
USH1G	124590	broad.mit.edu	37	chr17	72916266	72916266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgccgccctgcttgcgcCgctccagcttcttctgcatc	8	19	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:72916266C>T	uc002jme.1	-	2	848	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	USH1G_uc010wro.1_Missense_Mutation_p.R119Q	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	222					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGCTTGCGCCGCTCCAGCTT	0.682													T	72916266	C	T	72916266	3	4	198	1	0	0	0	0	1	0	0	0	17032	652	23	1	728	1	USH1G	17	72916266	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	10390761	72916266	8278944	1157	110246											
RECQL5	9400	broad.mit.edu	37	chr17	73627686	73627686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggttctggcagtggtcgCagcctttggcgcaggcaggc	18	10	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:73627686C>T	uc010dgl.2	-	9	1448	c.1292G>A	c.(1291-1293)TGC>TAC	p.C431Y	RECQL5_uc010dgk.2_Missense_Mutation_p.C404Y|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	431					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			GCAGTGGTCGCAGCCTTTGGC	0.697								Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	73627686	C	T	73627686	3	4	198	1	0	0	0	0	1	0	0	0	13203	710	25	2	1731	2	RECQL5	17	73627686	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	711420	73627686	7567524	1158	110247											
PRPSAP1	5635	broad.mit.edu	37	chr17	74324878	74324878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtccatgtccagttccGtgcactgagcttccccgtga	9	15	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:74324878G>A	uc010wta.1	-	7	1147	c.701C>T	c.(700-702)ACG>ATG	p.T234M	PRPSAP1_uc010wtb.1_Missense_Mutation_p.T131M	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	205					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						GTCCAGTTCCGTGCACTGAGC	0.547													A	74324878	G	A	74324878	3	1	198	1	0	0	0	0	1	0	0	0	12581	1145	40	1	472	1	PRPSAP1	17	74324878	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	697192	74324878	6870332	1159	110248											
UBE2O	63893	broad.mit.edu	37	chr17	74396262	74396263	+	Frame_Shift_Ins	INS	-	-	T													gccctccccctgggcgcagtINSttttttctggacattcccag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:74396261_74396262G>GT	uc002jrm.4	-	7	1186_1187	c.1121_1122C>AC	c.(1120-1122)aacfs	p.N374fs	UBE2O_uc002jrn.4_Frame_Shift_Ins_p.N374fs|UBE2O_uc002jrl.4_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	374							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						CCTGGGCGCAGTTTTTTTCTGG	0.559													T	74396263	-	T	74396262	7	5	198	1	0	1	1	0	0	0	0	0	16865	1725	60	0	2801	0	UBE2O	17	74396262	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	71384	74396262	6798948	1160	110249											
USP36	57602	broad.mit.edu	37	chr17	76798447	76798447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccattcgcggatggtgcgCagctgctggactcggggaca	16	11	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:76798447C>T	uc002jvz.1	-	17	3306	c.2981G>A	c.(2980-2982)TGC>TAC	p.C994Y	USP36_uc002jwa.1_Missense_Mutation_p.C994Y|USP36_uc002jwb.1_Missense_Mutation_p.C606Y|USP36_uc002jvy.1_Missense_Mutation_p.C54Y	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	992					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGATGGTGCGCAGCTGCTGGA	0.642													T	76798447	C	T	76798447	3	4	198	1	0	0	0	0	1	0	0	0	17064	710	25	2	406	2	USP36	17	76798447	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2402185	76798447	4396763	1161	110250											
GAA	2548	broad.mit.edu	37	chr17	78090814	78090814	+	Frame_Shift_Del	DEL	G	G	-													tgtggaccaccagctcctgtGgggggaggccctgctcatca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:78090813_78090813TG>T	uc002jxp.3	+	15	2603	c.2236_2236TG>T	c.(2236-2238)tggfs	p.W746fs	GAA_uc002jxo.3_Frame_Shift_Del_p.W746fs|GAA_uc002jxq.3_Frame_Shift_Del_p.W746fs	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	746			W -> C (in dbSNP:rs1800312).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCAGCTCCTGTGGGGGGAGGC	0.637													-	78090814	G	-	78090814	7	5	198	1	0	1	0	1	0	0	0	0	6147	1357	47	0	2295	0	GAA	17	78090814	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1292367	78090814	3104396	1162	110251											
RNF213	57674	broad.mit.edu	37	chr17	78319326	78319326	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgtatgagctcacaacCgacaatatgcttaaaatcct	5	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:78319326C>A	uc002jyh.1	+	4	1633	c.1410C>A	c.(1408-1410)ACC>ACA	p.T470T		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTCACAACCGACAATATGC	0.507													A	78319326	C	A	78319326	2	1	198	1	0	0	0	0	0	0	0	1	13477	639	23	5		5	RNF213	17	78319326	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	228512	78319326	2875884	1163	110252											
C17orf56	146705	broad.mit.edu	37	chr17	79202797	79202797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgctgtcctctgggaCgatgtttggggggcgcgggg	20	8	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79202797C>T	uc002jzu.1	-	12	1531	c.1509G>A	c.(1507-1509)TCG>TCA	p.S503S	C17orf56_uc002jzr.1_Silent_p.S173S|C17orf56_uc002jzs.1_Silent_p.S419S|C17orf56_uc002jzt.1_Silent_p.S419S|C17orf56_uc002jzv.1_Silent_p.S351S|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	503						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCTCTGGGACGATGTTTGGG	0.657													T	79202797	C	T	79202797	2	4	198	1	0	0	0	0	0	0	0	1	1864	523	19	1		1	C17orf56	17	79202797	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	883471	79202797	1992413	1164	110253											
NPLOC4	55666	broad.mit.edu	37	chr17	79573742	79573742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcagcgtgatggcgctcGgctggcacttagtacagatg	14	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79573742G>A	uc002kat.3	-	7	811	c.629C>T	c.(628-630)CCG>CTG	p.P210L	NPLOC4_uc002kau.3_Missense_Mutation_p.P210L|NPLOC4_uc010wur.1_Missense_Mutation_p.P49L	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	210					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			GATGGCGCTCGGCTGGCACTT	0.532													A	79573742	G	A	79573742	3	1	198	1	0	0	0	0	1	0	0	0	10586	1116	39	1	1241	1	NPLOC4	17	79573742	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	370945	79573742	1621468	1165	110254											
PYCR1	5831	broad.mit.edu	37	chr17	79894022	79894022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagcagaaactgtggccaGgtccatgtctggggagctag	16	8	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79894022G>A	uc002kcr.1	-	2	393	c.115C>T	c.(115-117)CTG>TTG	p.L39L	PYCR1_uc002kcq.1_Silent_p.L39L|PYCR1_uc002kcp.2_Silent_p.L39L|PYCR1_uc002kcs.1_Silent_p.L39L|PYCR1_uc010wvd.1_Silent_p.L66L|PYCR1_uc002kct.1_Silent_p.L39L|PYCR1_uc002kcu.1_Silent_p.L39L|PYCR1_uc010wve.1_5'Flank	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	39					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	ACTGTGGCCAGGTCCATGTCT	0.493													A	79894022	G	A	79894022	2	1	198	1	0	0	0	0	0	0	0	1	12855	991	35	4		4	PYCR1	17	79894022	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	320280	79894022	1301188	1166	110255											
ASPSCR1	79058	broad.mit.edu	37	chr17	79968693	79968693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctaggtggctctgagggtcCtgttccccgaccgctacgtc	12	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79968693C>A	uc002kcx.2	+	10	1283	c.1186C>A	c.(1186-1188)CTG>ATG	p.L396M	ASPSCR1_uc002kcw.1_Missense_Mutation_p.L396M|ASPSCR1_uc002kcy.2_Missense_Mutation_p.L396M|ASPSCR1_uc002kcz.2_Missense_Mutation_p.L290M|ASPSCR1_uc002kda.2_Missense_Mutation_p.L319M	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	396	UBX.						protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	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)			TCTGAGGGTCCTGTTCCCCGA	0.701			T	TFE3	alveolar soft part sarcoma								A	79968693	C	A	79968693	3	1	198	1	0	0	0	0	1	0	0	0	1059	680	24	5	1224	5	ASPSCR1	17	79968693	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	74671	79968693	1226517	1167	110256											
CCDC57	284001	broad.mit.edu	37	chr17	80085655	80085655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggagggtgccactggCaaaggaggaggagctgtggg	20	7	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:80085655C>T	uc002kdx.1	-	16	2513	c.2476G>A	c.(2476-2478)GCC>ACC	p.A826T	CCDC57_uc002kdy.2_Missense_Mutation_p.A133T	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	827										ovary(2)	2	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)			GTGCCACTGGCAAAGGAGGAG	0.602													T	80085655	C	T	80085655	3	4	198	1	0	0	0	0	1	0	0	0	2827	710	25	2	279	2	CCDC57	17	80085655	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	116962	80085655	1109555	1168	110257											
CD7	924	broad.mit.edu	37	chr17	80274765	80274765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcccgagctgcctcaGgtagatcccacgcaggcccc	12	17	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:80274765G>T	uc002kel.1	-	2	284	c.175C>A	c.(175-177)CTG>ATG	p.L59M	CD7_uc010din.2_Missense_Mutation_p.L59M|CD7_uc002kem.2_Missense_Mutation_p.P40H|CD7_uc010wvk.1_Missense_Mutation_p.L59M	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	59	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	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)			AGCTGCCTCAGGTAGATCCCA	0.652													T	80274765	G	T	80274765	3	4	198	1	0	0	0	0	1	0	0	0	3032	991	35	5	559	5	CD7	17	80274765	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	189110	80274765	920445	1169	110258											
RAB12	201475	broad.mit.edu	37	chr18	8636350	8636350	+	Frame_Shift_Del	DEL	A	A	-													aacttgtcgatgacattctgAaaaaggtaaaaaaaagaatc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:8636349_8636349GA>G	uc002knp.3	+	4	898	c.615_615GA>G	c.(613-615)ctgfs	p.L205fs		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.	205					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						ATGACATTCTGAAAAAGGTAA	0.333													-	8636350	A	-	8636350	7	5	198	1	0	1	0	1	0	0	0	0	12898	247	9	0	634	0	RAB12	18	8636350	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08		8636350	69440898	1170	110259											
TUBB6	84617	broad.mit.edu	37	chr18	12325560	12325560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagctggcggtgaacatgGtgcccttcccgcgcctgcac	13	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:12325560G>A	uc002kqw.2	+	4	817	c.772G>A	c.(772-774)GTG>ATG	p.V258M	TUBB6_uc002kqv.2_Missense_Mutation_p.V186M|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.V221M|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	258					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GGTGAACATGGTGCCCTTCCC	0.682													A	12325560	G	A	12325560	3	1	198	1	0	0	0	0	1	0	0	0	16757	1261	44	4	786	4	TUBB6	18	12325560	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3689210	12325560	65751688	1171	110260											
CEP192	55125	broad.mit.edu	37	chr18	13049146	13049146	+	Frame_Shift_Del	DEL	A	A	-													ttgatatggagaaataccttAaaaaaacagaagttagtaga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:13049145_13049145TA>T	uc010xac.2	+	15	2435	c.2355_2355TA>T	c.(2353-2355)cttfs	p.L785fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.L310fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Frame_Shift_Del_p.L526fs	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	380										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						AGAAATACCTTAAAAAAACAG	0.328													-	13049146	A	-	13049146	7	5	198	1	0	1	0	1	0	0	0	0	3251	363	13	0	2414	0	CEP192	18	13049146	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	723586	13049146	65028102	1172	110261											
ROCK1	6093	broad.mit.edu	37	chr18	18566911	18566911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtactatttttcttacTtcatcctccatcctttcttt	2	12	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:18566911T>G	uc002kte.2	-	19	3245	c.2304A>C	c.(2302-2304)GAA>GAC	p.E768D		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	768	Glu-rich.				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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTTTTCTTACTTCATCCTCCA	0.333													G	18566911	T	G	18566911	3	3	198	1	0	0	0	0	1	0	0	0	13517	1623	56	5	1820	5	ROCK1	18	18566911	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	5517765	18566911	59510337	1173	110262											
ZNF521	25925	broad.mit.edu	37	chr18	22805217	22805217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggctgccccacaaatgtCgcagccgtacataggctcag	11	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:22805217C>T	uc002kvk.2	-	4	2912	c.2665G>A	c.(2665-2667)GAC>AAC	p.D889N	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D889N|ZNF521_uc002kvl.2_Missense_Mutation_p.D669N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	889	C2H2-type 21; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCACAAATGTCGCAGCCGTAC	0.522			T	PAX5	ALL								T	22805217	C	T	22805217	3	4	198	1	0	0	0	0	1	0	0	0	17962	884	31	1	1290	1	ZNF521	18	22805217	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4238306	22805217	55272031	1174	110263											
CDH2	1000	broad.mit.edu	37	chr18	25570168	25570168	+	Frame_Shift_Del	DEL	A	A	-													atgatcttaggattgggggcAaaataagggttttcatttac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:25570167_25570167CA>C	uc002kwg.2	-	9	1951	c.1492_1492TG>G	c.(1492-1494)gccfs	p.A498fs	CDH2_uc010xbn.1_Frame_Shift_Del_p.A467fs	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	498	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGATTGGGGGCAAAATAAGGG	0.453													-	25570168	A	-	25570168	7	5	198	1	0	1	0	1	0	0	0	0	3105	127	5	0	1257	0	CDH2	18	25570168	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	2764951	25570168	52507080	1175	110264											
FAM59A	64762	broad.mit.edu	37	chr18	29868123	29868123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccccagtacacagggtgAtgttgtaaacttcagtgtct	9	10	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:29868123A>G	uc002kxl.2	-	4	493	c.437T>C	c.(436-438)ATC>ACC	p.I146T	FAM59A_uc002kxk.1_Missense_Mutation_p.I146T	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	146	CABIT.									ovary(1)|skin(1)	2						ACACAGGGTGATGTTGTAAAC	0.383													G	29868123	A	G	29868123	3	3	198	1	0	0	0	0	1	0	0	0	5592	333	12	3	2202	3	FAM59A	18	29868123	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4297955	29868123	48209125	1176	110265											
KLHL14	57565	broad.mit.edu	37	chr18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-													agcgccagctccgactccacGgggggcggcagcgagtccag					rs147661052		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642													-	30349862	G	-	30349862	7	5	198	1	0	1	0	1	0	0	0	0	8370	1103	39	0	1225	0	KLHL14	18	30349862	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	481739	30349862	47727386	1177	110266											
ASXL3	80816	broad.mit.edu	37	chr18	31318771	31318772	+	Frame_Shift_Ins	INS	-	-	A													atctgtgaatgccaggatgaINSaaatcataagacaatacctg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:31318770_31318771G>GA	uc010dmg.1	+	10	1457_1458	c.1402_1403G>GA	c.(1402-1404)gaafs	p.E468fs	ASXL3_uc002kxq.2_Frame_Shift_Ins_p.E175fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	468					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						ATGCCAGGATGAAAATCATAAG	0.411													A	31318772	-	A	31318771	7	5	198	1	0	1	1	0	0	0	0	0	1068	246	9	0	1445	0	ASXL3	18	31318771	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	968909	31318771	46758477	1178	110267											
FHOD3	80206	broad.mit.edu	37	chr18	34298660	34298660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttgagtctaaatccaaGgaactgtctgtctcaaaggt	9	8	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:34298660G>T	uc002kzt.1	+	15	2920	c.2823G>T	c.(2821-2823)AAG>AAT	p.K941N	FHOD3_uc002kzs.1_Missense_Mutation_p.K958N|FHOD3_uc010dmz.1_Missense_Mutation_p.K673N|FHOD3_uc010dna.1_Missense_Mutation_p.K261N	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	941	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTAAATCCAAGGAACTGTCTG	0.438													T	34298660	G	T	34298660	3	4	198	1	0	0	0	0	1	0	0	0	5883	991	35	5	2936	5	FHOD3	18	34298660	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2979889	34298660	43778588	1179	110268											
CELF4	56853	broad.mit.edu	37	chr18	34833844	34833844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatgccgatctggaagCcgttcatggcctggatggcg	13	11	4	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:34833844C>T	uc002lae.2	-	12	1787	c.1391G>A	c.(1390-1392)GGC>GAC	p.G464D	CELF4_uc010dnd.1_Missense_Mutation_p.G462D|CELF4_uc002lag.2_Missense_Mutation_p.G426D|CELF4_uc002laf.2_Missense_Mutation_p.G458D	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	464	RRM 3.				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			ovary(2)	2						GATCTGGAAGCCGTTCATGGC	0.647													T	34833844	C	T	34833844	3	4	198	1	0	0	0	0	1	0	0	0	3218	739	26	2	73	2	CELF4	18	34833844	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	535184	34833844	43243404	1180	110269											
SETBP1	26040	broad.mit.edu	37	chr18	42531906	42531906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggagacgatccccagCgacagcggcattgggacaga	15	10	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:42531906C>T	uc010dni.2	+	4	2897	c.2601C>T	c.(2599-2601)AGC>AGT	p.S867S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	867						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CGATCCCCAGCGACAGCGGCA	0.552									Schinzel-Giedion_syndrome				T	42531906	C	T	42531906	2	4	198	1	0	0	0	0	0	0	0	1	14129	767	27	1		1	SETBP1	18	42531906	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	7698062	42531906	35545342	1181	110270											
KIAA0427	9811	broad.mit.edu	37	chr18	46288052	46288052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccggagcctgctcctcaacAtgctgcaggtaactggacgc	11	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:46288052A>G	uc002ldc.2	+	9	1648	c.1363A>G	c.(1363-1365)ATG>GTG	p.M455V	KIAA0427_uc002ldd.2_Missense_Mutation_p.M457V|KIAA0427_uc002lde.3_Missense_Mutation_p.M84V	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	455	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GCTCCTCAACATGCTGCAGGT	0.637													G	46288052	A	G	46288052	3	3	198	1	0	0	0	0	1	0	0	0	8176	217	8	3	1399	3	KIAA0427	18	46288052	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	3756146	46288052	31789196	1182	110271											
DCC	1630	broad.mit.edu	37	chr18	51052985	51052985	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactgtgttttctatttcAgggcccactcttcctaagac	6	12	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:51052985A>G	uc002lfe.1	+	28	4699	c.4112_splice	c.e28-2	p.G1371_splice	DCC_uc010dpf.1_Splice_Site_p.G1004_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor						apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTCTATTTCAGGGCCCACTC	0.448													G	51052985	A	G	51052985	5	3	198	1	0	0	0	0	0	0	1	0	4282	202	7	3	4220	3	DCC	18	51052985	Splice_Site	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4764933	51052985	27024263	1183	110272											
WDR7	23335	broad.mit.edu	37	chr18	54424020	54424020	+	Frame_Shift_Del	DEL	T	T	-													agttcagacaaagggggctcTtttttaactggaaaacgagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:54424019_54424019CT>C	uc002lgk.1	+	14	2406	c.2195_2195CT>C	c.(2194-2196)tctfs	p.S732fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.S732fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	732										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)		AAAGGGGGCTCTTTTTTAACT	0.428													-	54424020	T	-	54424020	7	5	198	1	0	1	0	1	0	0	0	0	17317	1596	56	0	2250	0	WDR7	18	54424020	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	3371035	54424020	23653228	1184	110273											
WDR7	23335	broad.mit.edu	37	chr18	54483305	54483305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagactatcaccacggctccTgatgcctcagggcctgaagc	10	15	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:54483305T>C	uc002lgk.1	+	20	3445	c.3234T>C	c.(3232-3234)CCT>CCC	p.P1078P	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.P1045P	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1078										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CCACGGCTCCTGATGCCTCAG	0.453													C	54483305	T	C	54483305	2	2	198	1	0	0	0	0	0	0	0	1	17317	1567	55	3		3	WDR7	18	54483305	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	59285	54483305	23593943	1185	110274											
WDR7	23335	broad.mit.edu	37	chr18	54629676	54629676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggttctacatggtcagCtattatgagcggaatcacag	10	9	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:54629676C>T	uc002lgk.1	+	26	4291	c.4080C>T	c.(4078-4080)AGC>AGT	p.S1360S	WDR7_uc002lgl.1_Silent_p.S1327S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1360	WD 8.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		ACATGGTCAGCTATTATGAGC	0.428													T	54629676	C	T	54629676	2	4	198	1	0	0	0	0	0	0	0	1	17317	796	28	2		2	WDR7	18	54629676	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	146371	54629676	23447572	1186	110275											
ZNF516	9658	broad.mit.edu	37	chr18	74091691	74091691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccattgggctgaatccaCgggggagccacggagttgca	14	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:74091691C>T	uc010dqx.1	-	3	2614	c.2379G>A	c.(2377-2379)CCG>CCA	p.P793P	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTGAATCCACGGGGGAGCCA	0.592													T	74091691	C	T	74091691	2	4	198	1	0	0	0	0	0	0	0	1	17957	523	19	1		1	ZNF516	18	74091691	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	19462015	74091691	3985557	1187	110276											
ZNF236	7776	broad.mit.edu	37	chr18	74620360	74620360	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcagagcatgcaggcCtccactcaaatgcaggtgga	12	12	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:74620360C>A	uc002lmi.2	+	14	2574	c.2376C>A	c.(2374-2376)GCC>GCA	p.A792A	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	792					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		GCATGCAGGCCTCCACTCAAA	0.582													A	74620360	C	A	74620360	2	1	198	1	0	0	0	0	0	0	0	1	17786	668	24	5		5	ZNF236	18	74620360	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	528669	74620360	3456888	1188	110277											
ZNF236	7776	broad.mit.edu	37	chr18	74639295	74639295	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattggctcagcagctcacGggggagcctggcctggcccc	14	15	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:74639295G>T	uc002lmi.2	+	24	4428	c.4230G>T	c.(4228-4230)ACG>ACT	p.T1410T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		AGCAGCTCACGGGGGAGCCTG	0.552													T	74639295	G	T	74639295	2	4	198	1	0	0	0	0	0	0	0	1	17786	1103	39	5		5	ZNF236	18	74639295	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	18935	74639295	3437953	1189	110278											
SALL3	27164	broad.mit.edu	37	chr18	76753440	76753440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagatgaacccttacccGgtccccgagtacctggacaa	8	15	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:76753440G>A	uc002lmt.2	+	2	1449	c.1449G>A	c.(1447-1449)CCG>CCA	p.P483P	SALL3_uc010dra.2_Silent_p.P90P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		ACCCTTACCCGGTCCCCGAGT	0.622													A	76753440	G	A	76753440	2	1	198	1	0	0	0	0	0	0	0	1	13812	1103	39	1		1	SALL3	18	76753440	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2114145	76753440	1323808	1190	110279											
ATP9B	374868	broad.mit.edu	37	chr18	77037089	77037089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgggcaaagcggtgtAtggatggatgatgatgaaag	17	3	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:77037089A>G	uc002lmx.2	+	13	1318	c.1304A>G	c.(1303-1305)TAT>TGT	p.Y435C	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.Y435C|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_Missense_Mutation_p.Y129C	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	435	Cytoplasmic (Potential).				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			ovary(3)	3		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)		AAAGCGGTGTATGGATGGATG	0.493													G	77037089	A	G	77037089	3	3	198	1	0	0	0	0	1	0	0	0	1199	449	16	3	1354	3	ATP9B	18	77037089	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	283649	77037089	1040159	1191	110280											
PQLC1	80148	broad.mit.edu	37	chr18	77679353	77679353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggccaggacgcactgcaCgtagtccgagaagctgctcc	13	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:77679353C>T	uc002lnl.2	-	5	611	c.439G>A	c.(439-441)GTG>ATG	p.V147M	PQLC1_uc010dre.2_Missense_Mutation_p.V64M|PQLC1_uc002lnk.2_Missense_Mutation_p.V129M|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	147	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		ACGCACTGCACGTAGTCCGAG	0.622													T	77679353	C	T	77679353	3	4	198	1	0	0	0	0	1	0	0	0	12418	536	19	1	384	1	PQLC1	18	77679353	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	642264	77679353	397895	1192	110281											
POLRMT	5442	broad.mit.edu	37	chr19	617821	617821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgtgagtccagtaacagtCgtgcacagagacgaaggtca	13	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:617821C>T	uc002lpf.1	-	18	3507	c.3451G>A	c.(3451-3453)GAC>AAC	p.D1151N		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1151	Mediates interaction with TEFM.	By similarity.			transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		CAGTAACAGTCGTGCACAGAG	0.642													T	617821	C	T	617821	3	4	198	1	0	0	0	0	1	0	0	0	12238	884	31	1	257	1	POLRMT	19	617821	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08		617821	58511162	1193	110282											
MBD3	53615	broad.mit.edu	37	chr19	1578342	1578342	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccccgcagcacctgccctaGacgtgctccatctccgggtc	10	19	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:1578342G>A	uc002ltl.1	-	6	895	c.873C>T	c.(871-873)GTC>GTT	p.V291V	uc002lti.1_5'Flank|MBD3_uc002ltj.2_Silent_p.V291V|MBD3_uc002ltk.2_Silent_p.V259V	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	291					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)		ACCTGCCCTAGACGTGCTCCA	0.557													A	1578342	G	A	1578342	2	1	198	1	0	0	0	0	0	0	0	1	9344	929	33	4		4	MBD3	19	1578342	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	960521	1578342	57550641	1194	110283											
REXO1	57455	broad.mit.edu	37	chr19	1827647	1827647	+	Frame_Shift_Del	DEL	T	T	-													gggggcaggtggggccccggTttttttcttcttgggttttc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:1827646_1827646GT>G	uc002lua.4	-	1	1237	c.1142_1142AC>C	c.(1141-1143)accfs	p.T381fs	REXO1_uc010dsr.1_Frame_Shift_Del_p.T335fs	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	381						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TGGGGCCCCGGTTTTTTTCTT	0.682													-	1827647	T	-	1827647	7	5	198	1	0	1	0	1	0	0	0	0	13241	1725	60	0	2584	0	REXO1	19	1827647	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	249305	1827647	57301336	1195	110284											
DOT1L	84444	broad.mit.edu	37	chr19	2193687	2193687	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggatctctctgatcataGgtgtgggccaggtcgtgctc	14	9	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2193687G>A	uc002lvb.3	+	6	530	c.494_splice	c.e6-1	p.G165_splice		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase							nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	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)		TCTGATCATAGGTGTGGGCCA	0.582													A	2193687	G	A	2193687	5	1	198	1	0	0	0	0	0	0	1	0	4709	1014	35	4	515	4	DOT1L	19	2193687	Splice_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08	366040	2193687	56935296	1196	110285											
DOT1L	84444	broad.mit.edu	37	chr19	2213960	2213960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagcaggacaaccgcgCgctccgcggccagagcttgc	15	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2213960C>T	uc002lvb.3	+	18	1808	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	591						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	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)		GACAACCGCGCGCTCCGCGGC	0.677													T	2213960	C	T	2213960	3	4	198	1	0	0	0	0	1	0	0	0	4709	768	27	1	1842	1	DOT1L	19	2213960	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	20273	2213960	56915023	1197	110286											
LINGO3	645191	broad.mit.edu	37	chr19	2291504	2291504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgccgggctccacgtgcGcgatggcgttctcgctcagg	16	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2291504G>A	uc010dsx.1	-	2	400	c.272C>T	c.(271-273)GCG>GTG	p.A91V	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_Missense_Mutation_p.R106H	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	91	LRR 2.|Extracellular (Potential).					integral to membrane					0						CTCCACGTGCGCGATGGCGTT	0.726													A	2291504	G	A	2291504	3	1	198	1	0	0	0	0	1	0	0	0	8816	1087	38	1	1510	1	LINGO3	19	2291504	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	77544	2291504	56837479	1198	110287											
GNG7	2788	broad.mit.edu	37	chr19	2515096	2515096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccagcagggggtcgttcCgggcatgttgctcacagtag	15	11	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2515096C>T	uc002lwd.2	-	5	368	c.131G>A	c.(130-132)CGG>CAG	p.R44Q	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	44					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		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)		GGGGTCGTTCCGGGCATGTTG	0.408													T	2515096	C	T	2515096	3	4	198	1	0	0	0	0	1	0	0	0	6531	652	23	1	79	1	GNG7	19	2515096	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	223592	2515096	56613887	1199	110288											
ZNF57	126295	broad.mit.edu	37	chr19	2917413	2917413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagccttcatttatccctCgacatttcaaagacacatga	6	11	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2917413C>T	uc002lwr.2	+	4	942	c.794C>T	c.(793-795)TCG>TTG	p.S265L	ZNF57_uc010xha.1_Missense_Mutation_p.S233L	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	265	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)		ATTTATCCCTCGACATTTCAA	0.448													T	2917413	C	T	2917413	3	4	198	1	0	0	0	0	1	0	0	0	17998	893	31	1	808	1	ZNF57	19	2917413	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	402317	2917413	56211570	1200	110289											
PIP5K1C	23396	broad.mit.edu	37	chr19	3644115	3644115	+	Frame_Shift_Del	DEL	C	C	-													cagcgtggggtagctgcgggCcccccgcaggtcgtactggg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:3644114_3644114GC>G	uc002lyj.2	-	11	1570	c.1481_1481GC>C	c.(1480-1482)gccfs	p.A494fs	PIP5K1C_uc010xhq.2_Frame_Shift_Del_p.A494fs|PIP5K1C_uc010xhr.2_Frame_Shift_Del_p.A494fs	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	494					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)		GTAGCTGCGGGCCCCCCGCAG	0.706													-	3644115	C	-	3644115	7	5	198	1	0	1	0	1	0	0	0	0	11941	739	26	0	554	0	PIP5K1C	19	3644115	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	726702	3644115	55484868	1201	110290											
TJP3	27134	broad.mit.edu	37	chr19	3733835	3733835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggaagctaagcctgctgGtgctgagagatcgtgggcag	17	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:3733835G>A	uc010xhv.1	+	6	859	c.859G>A	c.(859-861)GTG>ATG	p.V287M	TJP3_uc010xhs.1_Missense_Mutation_p.V268M|TJP3_uc010xht.1_Missense_Mutation_p.V232M|TJP3_uc010xhu.1_Missense_Mutation_p.V277M|TJP3_uc010xhw.1_Missense_Mutation_p.V287M	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	268	PDZ 2.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCTGCTGGTGCTGAGAGA	0.567													A	3733835	G	A	3733835	3	1	198	1	0	0	0	0	1	0	0	0	15928	1261	44	4	881	4	TJP3	19	3733835	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	89720	3733835	55395148	1202	110291											
ANKRD24	170961	broad.mit.edu	37	chr19	4217166	4217166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccagtcacagggaccaCaaacatggaggccacgggct	12	15	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4217166C>T	uc010dtt.1	+	18	2285	c.2009C>T	c.(2008-2010)ACA>ATA	p.T670I	ANKRD24_uc002lzs.2_Missense_Mutation_p.T641I|ANKRD24_uc002lzt.2_Missense_Mutation_p.T642I	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	670											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACAGGGACCACAAACATGGAG	0.622													T	4217166	C	T	4217166	3	4	198	1	0	0	0	0	1	0	0	0	653	478	17	4	2075	4	ANKRD24	19	4217166	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	483331	4217166	54911817	1203	110292											
UBXN6	80700	broad.mit.edu	37	chr19	4445590	4445590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctccagcacagccatgtCccacgagaaggtcaggaggg	13	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4445590C>T	uc002man.1	-	11	1327	c.1231G>A	c.(1231-1233)GAC>AAC	p.D411N	UBXN6_uc010dty.1_Missense_Mutation_p.D315N|UBXN6_uc002mam.1_Missense_Mutation_p.D358N	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	411						microtubule organizing center|nucleus	protein binding				0						ACAGCCATGTCCCACGAGAAG	0.642													T	4445590	C	T	4445590	3	4	198	1	0	0	0	0	1	0	0	0	16914	855	30	4	98	4	UBXN6	19	4445590	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	228424	4445590	54683393	1204	110293											
LRG1	116844	broad.mit.edu	37	chr19	4538453	4538454	+	Frame_Shift_Ins	INS	-	-	G													tgaagttggccagcagcccgINSgggggcagtttccggaggcg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4538452_4538453C>CG	uc002mau.3	-	1	554_555	c.543_544G>CG	c.(541-546)cccgggfs	p.P181fs	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	181						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)		GCCAGCAGCCCGGGGGGCAGTT	0.619													G	4538454	-	G	4538453	7	5	198	1	0	1	1	0	0	0	0	0	8942	1103	39	0	504	0	LRG1	19	4538453	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	92863	4538453	54590530	1205	110294											
TICAM1	148022	broad.mit.edu	37	chr19	4817190	4817190	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttcgtctgccctggcgtgGaggatcacaaagttatagaa	12	8	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4817190G>T	uc002mbi.2	-	2	1451	c.1200C>A	c.(1198-1200)CTC>CTA	p.L400L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	400	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCTGGCGTGGAGGATCACAA	0.577													T	4817190	G	T	4817190	2	4	198	1	0	0	0	0	0	0	0	1	15889	1161	41	5		5	TICAM1	19	4817190	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	278737	4817190	54311793	1206	110295											
KDM4B	23030	broad.mit.edu	37	chr19	5110750	5110750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggtgctggaccacacgCggcccacggcgctcaccagc	12	18	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:5110750C>T	uc002mbq.3	+	10	1262	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	KDM4B_uc010xil.1_Missense_Mutation_p.R346W|KDM4B_uc010xim.1_Missense_Mutation_p.R346W|KDM4B_uc002mbr.3_Missense_Mutation_p.R104W	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	346					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			lung(1)	1						GGACCACACGCGGCCCACGGC	0.662													T	5110750	C	T	5110750	3	4	198	1	0	0	0	0	1	0	0	0	8129	759	27	1	1066	1	KDM4B	19	5110750	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	293560	5110750	54018233	1207	110296											
CD70	970	broad.mit.edu	37	chr19	6590986	6590986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatagggcctgcgccgcaCcgagcagcccgaaccctcct	10	20	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:6590986C>T	uc002mfi.2	-	1	178	c.28G>A	c.(28-30)GTG>ATG	p.V10M	CD70_uc010xjf.1_Missense_Mutation_p.V10M	NM_001252	NP_001243	P32970	CD70_HUMAN	tumor necrosis factor ligand superfamily, member	10	Cytoplasmic (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding				0						CTGCGCCGCACCGAGCAGCCC	0.697													T	6590986	C	T	6590986	3	4	198	1	0	0	0	0	1	0	0	0	3033	507	18	4	565	4	CD70	19	6590986	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1480236	6590986	52537997	1208	110297											
INSR	3643	broad.mit.edu	37	chr19	7117191	7117191	+	Frame_Shift_Del	DEL	C	C	-													gcgaggaccctccatcccggCcccccgcctcctccctctga							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7117190_7117190GC>G	uc002mgd.1	-	21	4135	c.4026_4026GC>C	c.(4024-4026)ggcfs	p.G1342fs	INSR_uc002mge.1_Frame_Shift_Del_p.G1330fs	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1342					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|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|PTB domain binding|SH2 domain 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|receptor signaling protein tyrosine kinase activity	p.G1342fs*23(1)		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)	CTCCATCCCGGCCCCCCGCCT	0.592													-	7117191	C	-	7117191	7	5	198	1	0	1	0	1	0	0	0	0	7773	739	26	0	127	0	INSR	19	7117191	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	526205	7117191	52011792	1209	110298											
EVI5L	115704	broad.mit.edu	37	chr19	7928374	7928374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgatgggctgagcctggCgcggcacttggacgaggact	16	10	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7928374C>T	uc002min.2	+	19	2325	c.2171C>T	c.(2170-2172)GCG>GTG	p.A724V	EVI5L_uc010xjz.1_Missense_Mutation_p.A735V	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	724						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CTGAGCCTGGCGCGGCACTTG	0.716													T	7928374	C	T	7928374	3	4	198	1	0	0	0	0	1	0	0	0	5290	768	27	1	2278	1	EVI5L	19	7928374	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	811183	7928374	51200609	1210	110299											
MAP2K7	5609	broad.mit.edu	37	chr19	7975260	7975260	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcattgccgttaaggTgagccttggcggctaccccg	12	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7975260T>C	uc002mit.2	+	4	512	c.447_splice	c.e4+2	p.K149_splice	MAP2K7_uc002miv.2_Splice_Site_p.K149_splice|MAP2K7_uc010xka.1_Splice_Site|MAP2K7_uc010xkb.1_Splice_Site_p.K149_splice|MAP2K7_uc010dvv.2_Splice_Site_p.K24_splice	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCCGTTAAGGTGAGCCTTGGC	0.662													C	7975260	T	C	7975260	5	2	198	1	0	0	0	0	0	0	1	0	9242	1710	59	3	463	3	MAP2K7	19	7975260	Splice_Site	SNP	T	TCGA-CG-5733-01A-11D-1600-08	46886	7975260	51153723	1211	110300											
MAP2K7	5609	broad.mit.edu	37	chr19	7975970	7975970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggccagatcaagctctgcGacttcggcatcagcggccgc	14	14	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7975970G>A	uc002mit.2	+	7	846	c.781G>A	c.(781-783)GAC>AAC	p.D261N	MAP2K7_uc002miv.2_Missense_Mutation_p.D261N|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.D261N|MAP2K7_uc010dvv.2_Missense_Mutation_p.D136N	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	261	Protein kinase.				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CAAGCTCTGCGACTTCGGCAT	0.662													A	7975970	G	A	7975970	3	1	198	1	0	0	0	0	1	0	0	0	9242	1058	37	1	807	1	MAP2K7	19	7975970	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	710	7975970	51153013	1212	110301											
FBN3	84467	broad.mit.edu	37	chr19	8194245	8194245	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggatccagagcacactcgttGatgtctgcggcaggaggagg	16	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:8194245G>A	uc002mjf.2	-	16	2070	c.2049C>T	c.(2047-2049)ATC>ATT	p.I683I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	683	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CACACTCGTTGATGTCTGCGG	0.612													A	8194245	G	A	8194245	2	1	198	1	0	0	0	0	0	0	0	1	5704	1280	45	4		4	FBN3	19	8194245	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	218275	8194245	50934738	1213	110302											
MUC16	94025	broad.mit.edu	37	chr19	9024942	9024942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccagggcttttggggTcaaggcggtgggtgcagatg	19	6	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9024942T>C	uc002mkp.2	-	16	37124	c.36920A>G	c.(36919-36921)GAC>GGC	p.D12307G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12309	SEA 2.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTTTTGGGGTCAAGGCGGTG	0.547													C	9024942	T	C	9024942	3	2	198	1	0	0	0	0	1	0	0	0	9973	1667	58	3	6879	3	MUC16	19	9024942	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	830697	9024942	50104041	1214	110303											
MUC16	94025	broad.mit.edu	37	chr19	9046900	9046900	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctgcaggatgagtgagCcacgtggctgtagtctctgg	15	8	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9046900C>T	uc002mkp.2	-	5	34935	c.34731G>A	c.(34729-34731)TGG>TGA	p.W11577*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11579	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGAGTGAGCCACGTGGCTG	0.522													T	9046900	C	T	9046900	4	4	198	1	0	0	0	0	0	1	0	0	9973	740	26	2	9112	2	MUC16	19	9046900	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	21958	9046900	50082083	1215	110304											
MUC16	94025	broad.mit.edu	37	chr19	9059157	9059157	+	Frame_Shift_Del	DEL	T	T	-													ccagggaagatggagggctgTttttttccacagacagcggg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9059156_9059156GT>G	uc002mkp.3	-	2	28494	c.28290_28290AC>C	c.(28288-28290)aacfs	p.N9430fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9432	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						ATGGAGGGCTGTTTTTTTCCA	0.512													-	9059157	T	-	9059157	7	5	198	1	0	1	0	1	0	0	0	0	9973	1725	60	0	15562	0	MUC16	19	9059157	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	12257	9059157	50069826	1216	110305											
MUC16	94025	broad.mit.edu	37	chr19	9068944	9068944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtccagggtcagttggcCaagagatgtcaccccagaag	13	10	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9068944C>A	uc002mkp.2	-	3	18706	c.18502G>T	c.(18502-18504)GGC>TGC	p.G6168C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6170	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCAGTTGGCCAAGAGATGTC	0.488													A	9068944	C	A	9068944	3	1	198	1	0	0	0	0	1	0	0	0	9973	594	21	5	25349	5	MUC16	19	9068944	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	9787	9068944	50060039	1217	110306											
MUC16	94025	broad.mit.edu	37	chr19	9076908	9076908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctgagatagatgcccaGcagtaggggcaatgtcactt	12	8	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9076908G>A	uc002mkp.2	-	3	10742	c.10538C>T	c.(10537-10539)GCT>GTT	p.A3513V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3514	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAGATGCCCAGCAGTAGGGGC	0.512													A	9076908	G	A	9076908	3	1	198	1	0	0	0	0	1	0	0	0	9973	971	34	2	33313	2	MUC16	19	9076908	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7964	9076908	50052075	1218	110307											
OLFM2	93145	broad.mit.edu	37	chr19	9965341	9965341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcaccagcacagagcGcgagcggaagtggtatttga	13	11	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9965341G>A	uc002mmp.2	-	6	914	c.886C>T	c.(886-888)CGC>TGC	p.R296C	OLFM2_uc002mmo.2_Missense_Mutation_p.R218C	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	296	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						AGCACAGAGCGCGAGCGGAAG	0.622													A	9965341	G	A	9965341	3	1	198	1	0	0	0	0	1	0	0	0	10853	1087	38	1	482	1	OLFM2	19	9965341	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	888433	9965341	49163642	1219	110308											
ICAM5	7087	broad.mit.edu	37	chr19	10404943	10404943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtatctacgtctgcaacGccaccaaccgccacggctcc	8	19	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:10404943G>A	uc002mnu.3	+	8	2004	c.1939G>A	c.(1939-1941)GCC>ACC	p.A647T	ICAM5_uc002mnv.3_Missense_Mutation_p.A522T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	647	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGTCTGCAACGCCACCAACCG	0.682													A	10404943	G	A	10404943	3	1	198	1	0	0	0	0	1	0	0	0	7483	1087	38	1	1969	1	ICAM5	19	10404943	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	439602	10404943	48724040	1220	110309											
ECSIT	51295	broad.mit.edu	37	chr19	11617215	11617215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcatgagcacccgccatGcacatggcgaagacagggcc	13	13	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:11617215G>A	uc002msb.2	-	8	1214	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_3'UTR|ECSIT_uc010dyd.2_3'UTR|ECSIT_uc010xma.1_Silent_p.C146C	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	360					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						CACCCGCCATGCACATGGCGA	0.607													A	11617215	G	A	11617215	2	1	198	1	0	0	0	0	0	0	0	1	4900	1311	46	2		2	ECSIT	19	11617215	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1212272	11617215	47511768	1221	110310											
ZNF625	90589	broad.mit.edu	37	chr19	12257031	12257031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctaagagtctctctcccAtaagacctctgtgaacaatg	6	11	4	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12257031A>G	uc002mth.2	-	4	352	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.M35T	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCTCTCCCATAAGACCTCT	0.368													G	12257031	A	G	12257031	3	3	198	1	0	0	0	0	1	0	0	0	18046	217	8	3	922	3	ZNF625	19	12257031	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	639816	12257031	46871952	1222	110311											
ZNF44	51710	broad.mit.edu	37	chr19	12384334	12384334	+	Frame_Shift_Del	DEL	T	T	-													cggtttctccccagtgtgtaTtttttcatgtcttagatagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12384334delT	uc010xmj.1	-	5	1085	c.880delA	c.(880-882)ATAfs	p.I294fs	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Frame_Shift_Del_p.I246fs	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	294	C2H2-type 4.				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)		CCAGTGTGTATTTTTTCATGT	0.393													-	12384334	T	-	12384334	7	5	198	1	0	1	0	1	0	0	0	0	17909	1493	52	0	1115	0	ZNF44	19	12384334	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	127303	12384334	46744649	1223	110312											
DHPS	1725	broad.mit.edu	37	chr19	12790343	12790343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgatcatcttagaaggCgtccactttacaccctagga	10	12	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12790343C>T	uc002muh.1	-	5	703	c.606G>A	c.(604-606)ACG>ACA	p.T202T	DHPS_uc002muf.1_Silent_p.T79T|DHPS_uc002mug.1_Silent_p.T160T|DHPS_uc002mui.1_Silent_p.T202T|DHPS_uc002muj.1_Silent_p.T202T|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	202					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	TCTTAGAAGGCGTCCACTTTA	0.592													T	12790343	C	T	12790343	2	4	198	1	0	0	0	0	0	0	0	1	4485	755	27	1		1	DHPS	19	12790343	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	406009	12790343	46338640	1224	110313											
C19orf43	79002	broad.mit.edu	37	chr19	12841822	12841822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcaccgcactggtgagCtttgtactttttcacttctg	8	11	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12841822C>T	uc002muu.2	-	3	542	c.484G>A	c.(484-486)GCT>ACT	p.A162T		NM_024038	NP_076943	Q9BQ61	CS043_HUMAN	hypothetical protein MGC2803	162											0						CACTGGTGAGCTTTGTACTTT	0.542													T	12841822	C	T	12841822	3	4	198	1	0	0	0	0	1	0	0	0	1926	797	28	2	50	2	C19orf43	19	12841822	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	51479	12841822	46287161	1225	110314											
MAST1	22983	broad.mit.edu	37	chr19	12969475	12969475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatatcctcaccttcgccGagaacccgtttgtggtcggc	11	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12969475G>A	uc002mvm.2	+	12	1416	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	MAST1_uc002mvk.2_Missense_Mutation_p.E426K	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	430	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CACCTTCGCCGAGAACCCGTT	0.572													A	12969475	G	A	12969475	3	1	198	1	0	0	0	0	1	0	0	0	9324	1059	37	1	1334	1	MAST1	19	12969475	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	127653	12969475	46159508	1226	110315											
RAD23A	5886	broad.mit.edu	37	chr19	13059096	13059096	+	Frame_Shift_Del	DEL	C	C	-													ccacctcaggcatgtcccatCccccacctgccgccagagag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:13059095_13059095TC>T	uc002mvw.1	+	2	448	c.339_339TC>T	c.(337-339)catfs	p.H113fs	RAD23A_uc002mvz.1_Frame_Shift_Del_p.H113fs|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	113					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						GCATGTCCCATCCCCCACCTG	0.667								Nucleotide excision repair (NER)					-	13059096	C	-	13059096	7	5	198	1	0	1	0	1	0	0	0	0	12982	855	30	0	350	0	RAD23A	19	13059096	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	89621	13059096	46069887	1227	110316											
AKAP8L	26993	broad.mit.edu	37	chr19	15512143	15512143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccgagaggcaccagacaTgcactggccccgggccccca	12	18	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:15512143T>C	uc002naw.1	-	5	733	c.634A>G	c.(634-636)ATG>GTG	p.M212V	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.M151V|AKAP8L_uc002nay.1_Missense_Mutation_p.M212V|AKAP8L_uc002naz.2_Missense_Mutation_p.M60V	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	212						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						GCACCAGACATGCACTGGCCC	0.706													C	15512143	T	C	15512143	3	2	198	1	0	0	0	0	1	0	0	0	458	1464	51	3	1346	3	AKAP8L	19	15512143	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	2453047	15512143	43616840	1228	110317											
WIZ	58525	broad.mit.edu	37	chr19	15533942	15533942	+	Frame_Shift_Del	DEL	G	G	-													gggcctgggactcctcaggtGgggggtccgctttggagaag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:15533941_15533941TG>T	uc002nbc.3	-	7	2876	c.2853_2853CA>A	c.(2851-2853)ccafs	p.P951fs	WIZ_uc002nba.4_Frame_Shift_Del_p.P818fs|WIZ_uc002nbb.4_Frame_Shift_Del_p.P777fs	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1634						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						ACTCCTCAGGTGGGGGGTCCG	0.617													-	15533942	G	-	15533942	7	5	198	1	0	1	0	1	0	0	0	0	17372	1348	47	0	58	0	WIZ	19	15533942	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	21799	15533942	43595041	1229	110318											
SIN3B	23309	broad.mit.edu	37	chr19	16942458	16942458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgcctctgacaagccaGgtatgccactacagtggttc	10	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:16942458G>T	uc002ney.1	+	3	395	c.381G>T	c.(379-381)CAG>CAT	p.Q127H	SIN3B_uc002new.2_Missense_Mutation_p.Q127H|SIN3B_uc002nex.2_Missense_Mutation_p.Q59H|SIN3B_uc002nez.1_Missense_Mutation_p.Q127H	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	127					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						TGACAAGCCAGGTATGCCACT	0.483													T	16942458	G	T	16942458	3	4	198	1	0	0	0	0	1	0	0	0	14326	1014	35	5	391	5	SIN3B	19	16942458	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1408516	16942458	42186525	1230	110319											
SIN3B	23309	broad.mit.edu	37	chr19	16980513	16980513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggagtcagctgatgaGgaccgggacagcccccaggg	16	12	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:16980513G>A	uc002ney.1	+	14	2159	c.2145G>A	c.(2143-2145)GAG>GAA	p.E715E	SIN3B_uc002nez.1_Silent_p.E683E|SIN3B_uc010xpi.1_Silent_p.E273E	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	715					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CAGCTGATGAGGACCGGGACA	0.672													A	16980513	G	A	16980513	2	1	198	1	0	0	0	0	0	0	0	1	14326	991	35	4		4	SIN3B	19	16980513	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	38055	16980513	42148470	1231	110320											
MYO9B	4650	broad.mit.edu	37	chr19	17283255	17283255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagctttcatcatccagCacttcgcagggaaggtgaaa	10	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17283255C>T	uc010eak.2	+	12	2055	c.1903C>T	c.(1903-1905)CAC>TAC	p.H635Y	MYO9B_uc002nfi.2_Missense_Mutation_p.H635Y|MYO9B_uc002nfj.1_Missense_Mutation_p.H635Y	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	635	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(1)	1						CATCATCCAGCACTTCGCAGG	0.557													T	17283255	C	T	17283255	3	4	198	1	0	0	0	0	1	0	0	0	10085	710	25	2	1945	2	MYO9B	19	17283255	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	302742	17283255	41845728	1232	110321											
USE1	55850	broad.mit.edu	37	chr19	17330563	17330563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggccatgctcattatcGtctgcttcatcttcattagc	7	12	6	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17330563G>A	uc002nfo.2	+	8	781	c.721G>A	c.(721-723)GTC>ATC	p.V241I	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	241	Helical; Anchor for type IV membrane protein; (Potential).				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						GCTCATTATCGTCTGCTTCAT	0.527													A	17330563	G	A	17330563	3	1	198	1	0	0	0	0	1	0	0	0	17028	1145	40	1	751	1	USE1	19	17330563	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	47308	17330563	41798420	1233	110322											
FAM129C	199786	broad.mit.edu	37	chr19	17648229	17648229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccctcttggaagtgcctGtgagcttcccgctgttcctg	10	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17648229G>A	uc010xpr.1	+	6	703	c.565G>A	c.(565-567)GTG>ATG	p.V189M	FAM129C_uc010xpq.1_Missense_Mutation_p.V189M|FAM129C_uc010xps.1_Missense_Mutation_p.V158M|FAM129C_uc010xpt.1_RNA|FAM129C_uc002ngy.3_5'Flank|FAM129C_uc010xpu.1_5'Flank|FAM129C_uc002ngz.3_5'Flank|FAM129C_uc010eaw.2_5'Flank|FAM129C_uc002nhb.2_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	189											0						GGAAGTGCCTGTGAGCTTCCC	0.562													A	17648229	G	A	17648229	3	1	198	1	0	0	0	0	1	0	0	0	5438	1377	48	4	587	4	FAM129C	19	17648229	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	317666	17648229	41480754	1234	110323											
JAK3	3718	broad.mit.edu	37	chr19	17949077	17949078	+	Frame_Shift_Ins	INS	-	-	CCAGGCTGTCAGCAGG													ccagggcctcttacccactcINScaggctgtcagcagggatct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17949076_17949077T>TCCAGGCTGTCAGCAGG	uc002nhn.4	-	10	1664_1665	c.1564_1565A>CCTGCTGACAGCCTGGA	c.(1564-1566)gagfs	p.E522fs	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Frame_Shift_Ins_p.E522fs|JAK3_uc010xpx.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	522	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|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	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						TCTTACCCACTCCAGGCTGTCA	0.54		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								CCAGGCTGTCAGCAGG	17949078	-	CCAGGCTGTCAGCAGG	17949077	7	5	198	1	0	1	1	0	0	0	0	0	7939	864	30	0	1866	0	JAK3	19	17949077	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	300848	17949077	41179906	1235	110324											
KIAA1683	80726	broad.mit.edu	37	chr19	18368642	18368642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaggttccgccgcacaCggtagccgcgccaagtagct	13	15	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:18368642C>T	uc002nin.2	-	4	3107	c.2891G>A	c.(2890-2892)CGT>CAT	p.R964H	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1151H|KIAA1683_uc010xqe.1_Missense_Mutation_p.R918H|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	964	IQ 3.					mitochondrion				ovary(2)	2						CCGCCGCACACGGTAGCCGCG	0.692													T	18368642	C	T	18368642	3	4	198	1	0	0	0	0	1	0	0	0	8251	536	19	1	655	1	KIAA1683	19	18368642	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	419565	18368642	40760341	1236	110325											
ELL	8178	broad.mit.edu	37	chr19	18557279	18557279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctccgaagaggagatgGctgcgtacttcctgaaacag	13	10	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:18557279G>A	uc002njh.2	-	10	1616	c.1544C>T	c.(1543-1545)GCC>GTC	p.A515V	ELL_uc010ebq.2_Missense_Mutation_p.A458V|ELL_uc002njg.2_Missense_Mutation_p.A382V	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	515					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGAGGAGATGGCTGCGTACTT	0.637			T	MLL	AL								A	18557279	G	A	18557279	3	1	198	1	0	0	0	0	1	0	0	0	5062	1203	42	2	333	2	ELL	19	18557279	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	188637	18557279	40571704	1237	110326											
DDX49	54555	broad.mit.edu	37	chr19	19032668	19032668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacatggtggcccaggcGctggagctctctcggaaacc	13	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:19032668G>A	uc002nkq.1	+	4	399	c.342G>A	c.(340-342)GCG>GCA	p.A114A	COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Silent_p.A7A|DDX49_uc002nkt.1_5'UTR	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	114	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			TGGCCCAGGCGCTGGAGCTCT	0.632													A	19032668	G	A	19032668	2	1	198	1	0	0	0	0	0	0	0	1	4366	1074	38	1		1	DDX49	19	19032668	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	475389	19032668	40096315	1238	110327											
CCNE1	898	broad.mit.edu	37	chr19	30311678	30311678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctttgaccggtatatgGcgacacaagaaaatgttgta	9	6	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:30311678G>A	uc002nsn.2	+	7	715	c.532G>A	c.(532-534)GCG>ACG	p.A178T	CCNE1_uc002nso.2_Missense_Mutation_p.A163T|CCNE1_uc002nsp.2_5'Flank	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	178					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			lung(2)	2	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)			CCGGTATATGGCGACACAAGA	0.323													A	30311678	G	A	30311678	3	1	198	1	0	0	0	0	1	0	0	0	2920	1203	42	2	554	2	CCNE1	19	30311678	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	11279010	30311678	28817305	1239	110328											
WDR88	126248	broad.mit.edu	37	chr19	33623259	33623259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaccctcgaccccctgGccttggacagggaaccacca	10	18	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:33623259G>A	uc002nui.2	+	1	262	c.184G>A	c.(184-186)GCC>ACC	p.A62T		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	62										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					CGACCCCCTGGCCTTGGACAG	0.637													A	33623259	G	A	33623259	3	1	198	1	0	0	0	0	1	0	0	0	17332	1203	42	2	186	2	WDR88	19	33623259	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3311581	33623259	25505724	1240	110329											
WDR88	126248	broad.mit.edu	37	chr19	33666454	33666454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagggagaactcaccgccGccaaggggaagcaaggatga	15	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:33666454G>A	uc002nui.2	+	11	1473	c.1395G>A	c.(1393-1395)CCG>CCA	p.P465P		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	465										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					ACTCACCGCCGCCAAGGGGAA	0.537													A	33666454	G	A	33666454	2	1	198	1	0	0	0	0	0	0	0	1	17332	1074	38	1		1	WDR88	19	33666454	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	43195	33666454	25462529	1241	110330											
CHST8	64377	broad.mit.edu	37	chr19	34263265	34263265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtggaggaccgccaccGcgtgctctactgcgaggtgc	14	14	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:34263265G>A	uc002nus.3	+	5	1077	c.572G>A	c.(571-573)CGC>CAC	p.R191H	CHST8_uc002nut.3_Missense_Mutation_p.R191H|CHST8_uc002nuu.2_Missense_Mutation_p.R191H	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	191	Lumenal (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					GACCGCCACCGCGTGCTCTAC	0.701													A	34263265	G	A	34263265	3	1	198	1	0	0	0	0	1	0	0	0	3410	1087	38	1	582	1	CHST8	19	34263265	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	596811	34263265	24865718	1242	110331											
CHST8	64377	broad.mit.edu	37	chr19	34263278	34263278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaccgcgtgctctactgCgaggtgcccaaggccggctg	14	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:34263278C>T	uc002nus.3	+	5	1090	c.585C>T	c.(583-585)TGC>TGT	p.C195C	CHST8_uc002nut.3_Silent_p.C195C|CHST8_uc002nuu.2_Silent_p.C195C	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	195	Lumenal (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TGCTCTACTGCGAGGTGCCCA	0.692													T	34263278	C	T	34263278	2	4	198	1	0	0	0	0	0	0	0	1	3410	776	27	1		1	CHST8	19	34263278	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	13	34263278	24865705	1243	110332											
UBA2	10054	broad.mit.edu	37	chr19	34943022	34943022	+	Frame_Shift_Del	DEL	G	G	-													agagttcatttagcagaaaaGggggatggagctgagctcat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:34943021_34943021AG>A	uc002nvk.3	+	9	1077	c.1007_1007AG>A	c.(1006-1008)aagfs	p.K336fs	UBA2_uc010xrx.1_Frame_Shift_Del_p.K209fs|UBA2_uc002nvl.3_Frame_Shift_Del_p.K240fs	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	336					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization 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)			TTAGCAGAAAAGGGGGATGGA	0.418													-	34943022	G	-	34943022	7	5	198	1	0	1	0	1	0	0	0	0	16825	991	35	0	1046	0	UBA2	19	34943022	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	679744	34943022	24185961	1244	110333											
SCGBL	284402	broad.mit.edu	37	chr19	35085149	35085149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgctggacattgaggaaGgactcctctgtcaggggact	13	9	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35085149G>A	uc002nvn.2	-	2	199	c.177C>T	c.(175-177)TCC>TCT	p.S59S		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	59						extracellular region	binding				0						CATTGAGGAAGGACTCCTCTG	0.498													A	35085149	G	A	35085149	2	1	198	1	0	0	0	0	0	0	0	1	13902	987	35	4		4	SCGBL	19	35085149	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	142127	35085149	24043834	1245	110334											
ZNF302	55900	broad.mit.edu	37	chr19	35175800	35175800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggagagaaaccgtatgaAtgtatgaactgtggaaagtc	13	5	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35175800A>G	uc002nvr.1	+	6	1253	c.990A>G	c.(988-990)GAA>GAG	p.E330E	ZNF302_uc002nvp.1_Silent_p.E286E|ZNF302_uc002nvq.1_Silent_p.E286E|ZNF302_uc002nvs.1_Silent_p.E286E	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	365	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			AACCGTATGAATGTATGAACT	0.423													G	35175800	A	G	35175800	2	3	198	1	0	0	0	0	0	0	0	1	17829	98	4	3		3	ZNF302	19	35175800	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	90651	35175800	23953183	1246	110335											
ZNF181	339318	broad.mit.edu	37	chr19	35231880	35231881	+	Frame_Shift_Ins	INS	-	-	A													taccaaaaaagtcagttataINSaaaaatgagaaagtcaatgg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35231879_35231880T>TA	uc002nvu.3	+	3	1056_1057	c.593_594T>TA	c.(592-594)atafs	p.I198fs	ZNF181_uc010xsb.1_Frame_Shift_Ins_p.I197fs|ZNF181_uc010xsc.1_Frame_Shift_Ins_p.I133fs	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGTCAGTTATAAAAAATGAGA	0.351													A	35231881	-	A	35231880	7	5	198	1	0	1	1	0	0	0	0	0	17746	352	13	0	608	0	ZNF181	19	35231880	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	56080	35231880	23897103	1247	110336											
FAM187B	148109	broad.mit.edu	37	chr19	35719007	35719007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctgcagctcaggccGcaagcggctagaccacacca	9	17	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35719007G>A	uc002nyk.1	-	1	622	c.577C>T	c.(577-579)CGG>TGG	p.R193W		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	193	Extracellular (Potential).					integral to membrane				ovary(2)	2						AGCTCAGGCCGCAAGCGGCTA	0.557													A	35719007	G	A	35719007	3	1	198	1	0	0	0	0	1	0	0	0	5513	1086	38	1	540	1	FAM187B	19	35719007	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	487127	35719007	23409976	1248	110337											
HAUS5	23354	broad.mit.edu	37	chr19	36109010	36109010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccaggccacgtcctggCtgccttggagcacctggctg	12	18	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:36109010C>T	uc002oam.1	+	10	785	c.734C>T	c.(733-735)GCT>GTT	p.A245V		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	245					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						CACGTCCTGGCTGCCTTGGAG	0.657													T	36109010	C	T	36109010	3	4	198	1	0	0	0	0	1	0	0	0	6969	797	28	2	772	2	HAUS5	19	36109010	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	390003	36109010	23019973	1249	110338											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278096	36278096	+	Frame_Shift_Del	DEL	C	C	-													atatggagtcaccactgccaCcccctcccctgtctctcctg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:36278096delC	uc002obs.1	+	21	2231	c.2146delC	c.(2146-2148)CCCfs	p.P716fs	ARHGAP33_uc002obt.1_Frame_Shift_Del_p.P741fs|ARHGAP33_uc010eel.2_Frame_Shift_Del_p.P465fs|ARHGAP33_uc002obv.1_Frame_Shift_Del_p.P465fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	764					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						ACCACTGCCACCCCCTCCCCT	0.662													-	36278096	C	-	36278096	7	5	198	1	0	1	0	1	0	0	0	0	882	507	18	0	2711	0	ARHGAP33	19	36278096	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	169086	36278096	22850887	1250	110339											
TBCB	1155	broad.mit.edu	37	chr19	36611634	36611634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgaccacagtggcgcccGccttggtgagtatgaggacg	14	11	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:36611634G>A	uc002odg.1	+	3	856	c.281G>A	c.(280-282)CGC>CAC	p.R94H	TBCB_uc002odh.1_Missense_Mutation_p.R75H	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	94					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTGGCGCCCGCCTTGGTGAG	0.637													A	36611634	G	A	36611634	3	1	198	1	0	0	0	0	1	0	0	0	15627	1087	38	1	291	1	TBCB	19	36611634	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	333538	36611634	22517349	1251	110340											
LGALS4	3960	broad.mit.edu	37	chr19	39294176	39294176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccataccgggttgaaggttgGgggtccttccatggtctgtg	15	9	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:39294176G>T	uc002ojg.2	-	7	770	c.556C>A	c.(556-558)CCA>ACA	p.P186T	LGALS4_uc010xuj.1_3'UTR	NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	186					cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTGAAGGTTGGGGGTCCTTCC	0.532													T	39294176	G	T	39294176	3	4	198	1	0	0	0	0	1	0	0	0	8745	1232	43	5	431	5	LGALS4	19	39294176	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2682542	39294176	19834807	1252	110341											
LRFN1	57622	broad.mit.edu	37	chr19	39799075	39799075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaccactcgcgttgccGgcagcgctgtggccccgtcg	13	18	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:39799075G>A	uc002okw.2	-	2	1514	c.1514C>T	c.(1513-1515)CCG>CTG	p.P505L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	505	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	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)			TCGCGTTGCCGGCAGCGCTGT	0.677													A	39799075	G	A	39799075	3	1	198	1	0	0	0	0	1	0	0	0	8937	1116	39	1	805	1	LRFN1	19	39799075	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	504899	39799075	19329908	1253	110342											
SAMD4B	55095	broad.mit.edu	37	chr19	39870681	39870681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctccggacattcccgCgcaaagccgcactagagatg	10	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:39870681C>T	uc002olb.2	+	12	2641	c.1606C>T	c.(1606-1608)CGC>TGC	p.R536C	SAMD4B_uc002ola.2_Missense_Mutation_p.R536C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	536							protein binding				0	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)			GACATTCCCGCGCAAAGCCGC	0.572													T	39870681	C	T	39870681	3	4	198	1	0	0	0	0	1	0	0	0	13822	768	27	1	1636	1	SAMD4B	19	39870681	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	71606	39870681	19258302	1254	110343											
PSMC4	5704	broad.mit.edu	37	chr19	40480513	40480513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggccgtggagctcccGctcacgcatttcgagctcta	13	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:40480513G>A	uc002omq.2	+	5	589	c.552G>A	c.(550-552)CCG>CCA	p.P184P	PSMC4_uc002omr.2_Silent_p.P153P	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	184					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGAGCTCCCGCTCACGCATT	0.632													A	40480513	G	A	40480513	2	1	198	1	0	0	0	0	0	0	0	1	12689	1074	38	1		1	PSMC4	19	40480513	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	609832	40480513	18648470	1255	110344											
ZNF780A	284323	broad.mit.edu	37	chr19	40581188	40581188	+	Frame_Shift_Del	DEL	T	T	-													cattccttacattcaaacggTttttcacctgtgtgaatgtt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:40581187_40581187GT>G	uc010xvh.2	-	5	1313	c.1165_1165AC>C	c.(1165-1167)ccgfs	p.P389fs	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Frame_Shift_Del_p.P388fs|ZNF780A_uc002omz.3_Frame_Shift_Del_p.P388fs	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATTCAAACGGTTTTTCACCT	0.403													-	40581188	T	-	40581188	7	5	198	1	0	1	0	1	0	0	0	0	18149	1722	60	0	895	0	ZNF780A	19	40581188	Frame_Shift_Del	DEL	T	TCGA-CG-5733-01A-11D-1600-08	100675	40581188	18547795	1256	110345											
SERTAD3	29946	broad.mit.edu	37	chr19	40947828	40947828	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatggatgaggacatgccTgcggaggctgggtgctcggg	19	7	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:40947828T>G	uc002onu.3	-	2	438	c.160A>C	c.(160-162)AGG>CGG	p.R54R	SERTAD3_uc002onv.3_Silent_p.R54R	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	RPA-binding trans-activator	54	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGACATGCCTGCGGAGGCTG	0.672													G	40947828	T	G	40947828	2	3	198	1	0	0	0	0	0	0	0	1	14122	1579	55	5		5	SERTAD3	19	40947828	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	366640	40947828	18181155	1257	110346											
SPTBN4	57731	broad.mit.edu	37	chr19	41062146	41062146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggattgccgagaaggaGgtggtggctggctcacccga	16	10	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41062146G>A	uc002ony.2	+	25	5327	c.5241G>A	c.(5239-5241)GAG>GAA	p.E1747E	SPTBN4_uc002onx.2_Silent_p.E1747E|SPTBN4_uc002onz.2_Silent_p.E1747E|SPTBN4_uc010egx.2_Silent_p.E490E|SPTBN4_uc002ooa.2_Silent_p.E423E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1747	Spectrin 15.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGAGAAGGAGGTGGTGGCTG	0.552													A	41062146	G	A	41062146	2	1	198	1	0	0	0	0	0	0	0	1	15120	991	35	4		4	SPTBN4	19	41062146	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	114318	41062146	18066837	1258	110347											
LTBP4	8425	broad.mit.edu	37	chr19	41132911	41132911	+	Frame_Shift_Del	DEL	C	C	-													gccctgtgcaatgtgctacgCccccccgcatatagcccccc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41132911delC	uc002ooh.1	+	32	4218	c.4218delC	c.(4216-4218)CGCfs	p.R1406fs	LTBP4_uc002oog.1_Frame_Shift_Del_p.R1369fs|LTBP4_uc002ooi.1_Frame_Shift_Del_p.R1339fs|LTBP4_uc002ooj.1_Frame_Shift_Del_p.R279fs|LTBP4_uc002ook.1_Frame_Shift_Del_p.R540fs|LTBP4_uc002ool.1_Frame_Shift_Del_p.R418fs|LTBP4_uc010xvp.1_Frame_Shift_Del_p.R166fs	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1406					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)			ATGTGCTACGCCCCCCCGCAT	0.632													-	41132911	C	-	41132911	7	5	198	1	0	1	0	1	0	0	0	0	9076	726	26	0	4632	0	LTBP4	19	41132911	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	70765	41132911	17996072	1259	110348											
CYP2A13	1553	broad.mit.edu	37	chr19	41600201	41600201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaagaaccggcagcccaAgtttgaggaccgggccaaga	14	12	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41600201A>C	uc002opt.2	+	7	1034	c.1025A>C	c.(1024-1026)AAG>ACG	p.K342T		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	342					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	CGGCAGCCCAAGTTTGAGGAC	0.562													C	41600201	A	C	41600201	3	2	198	1	0	0	0	0	1	0	0	0	4161	72	3	5	1051	5	CYP2A13	19	41600201	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	467290	41600201	17528782	1260	110349											
CCDC97	90324	broad.mit.edu	37	chr19	41822288	41822288	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaatctctcctttcctcaGgctgcatagagcctggacct	7	15	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41822288G>T	uc002oqg.2	+	2	169	c.47_splice	c.e2-1	p.G16_splice	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97												0						CCTTTCCTCAGGCTGCATAGA	0.463													T	41822288	G	T	41822288	5	4	198	1	0	0	0	0	0	0	1	0	2875	1014	35	5	52	5	CCDC97	19	41822288	Splice_Site	SNP	G	TCGA-CG-5733-01A-11D-1600-08	222087	41822288	17306695	1261	110350											
B9D2	80776	broad.mit.edu	37	chr19	41863901	41863901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgtttggccctcccgcaCgcctgacaggagcttccatg	11	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41863901C>T	uc002oqj.2	-	3	335	c.115G>A	c.(115-117)GTG>ATG	p.V39M	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	39	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						CCCTCCCGCACGCCTGACAGG	0.632													T	41863901	C	T	41863901	3	4	198	1	0	0	0	0	1	0	0	0	1278	536	19	1	420	1	B9D2	19	41863901	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	41613	41863901	17265082	1262	110351											
DMRTC2	63946	broad.mit.edu	37	chr19	42354596	42354596	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccctttcccttgcaggcCtctggagcctcgtgcctggc	10	17	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:42354596C>A	uc002ors.2	+	8	902	c.819C>A	c.(817-819)GCC>GCA	p.A273A	DMRTC2_uc002orr.1_Silent_p.A201A|DMRTC2_uc010xwe.1_Silent_p.A324A	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	273	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CCTTGCAGGCCTCTGGAGCCT	0.602													A	42354596	C	A	42354596	2	1	198	1	0	0	0	0	0	0	0	1	4591	668	24	5		5	DMRTC2	19	42354596	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	490695	42354596	16774387	1263	110352											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-													cctggcccagccatcccaggCccccccaagcctggtctaca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:42796883delC	uc002otf.1	+	14	3381	c.3341delC	c.(3340-3342)GCCfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			T	DUX4	soft tissue sarcoma								-	42796883	C	-	42796883	7	5	198	1	0	1	0	1	0	0	0	0	3424	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	442287	42796883	16332100	1264	110353											
CIC	23152	broad.mit.edu	37	chr19	42798378	42798378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcgcaagatgagaagaCgctccagctgcagctcggag	13	12	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:42798378C>T	uc002otf.1	+	18	4289	c.4249C>T	c.(4249-4251)CGC>TGC	p.R1417C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GATGAGAAGACGCTCCAGCTG	0.612			T	DUX4	soft tissue sarcoma								T	42798378	C	T	42798378	3	4	198	1	0	0	0	0	1	0	0	0	3424	536	19	1	4319	1	CIC	19	42798378	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1495	42798378	16330605	1265	110354											
ZNF428	126299	broad.mit.edu	37	chr19	44112175	44112180	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-													attcaggatcgtcagtggtcTcctcttcctcctcctcctca					rs12980960		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:44112174_44112179CTCCTCT>C	uc002oxa.3	-	2	592_597	c.157_162AGAGGAG>G	c.(157-162)gaggag>G	p.EE53del	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	53	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				CGTCAGTGGTctcctcttcctcctcc	0.626													-	44112180	TCCTCT	-	44112175	7	5	198	1	0	1	0	1	0	0	0	0	17898	1551	54	0	409	0	ZNF428	19	44112175	In_Frame_Del	DEL	TCCTCT	TCGA-CG-5733-01A-11D-1600-08	1313797	44112175	15016808	1266	110355											
CADM4	199731	broad.mit.edu	37	chr19	44130991	44130991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagccggacgggaccgCggaacgaggcagctgagctc	18	12	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:44130991C>T	uc002oxc.1	-	4	493	c.444G>A	c.(442-444)CCG>CCA	p.P148P		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	148	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				GACGGGACCGCGGAACGAGGC	0.687													T	44130991	C	T	44130991	2	4	198	1	0	0	0	0	0	0	0	1	2569	755	27	1		1	CADM4	19	44130991	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	18816	44130991	14997992	1267	110356											
SFRS16	11129	broad.mit.edu	37	chr19	45573322	45573322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagagaagagtgggaacgCcagtacagccggcagagccg	17	9	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:45573322C>T	uc002pak.2	+	19	2015	c.1917C>T	c.(1915-1917)CGC>CGT	p.R639R	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.R577R|SFRS16_uc002pam.2_Silent_p.R620R	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	639	Potential.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGTGGGAACGCCAGTACAGCC	0.607													T	45573322	C	T	45573322	2	4	198	1	0	0	0	0	0	0	0	1	14172	726	26	2		2	SFRS16	19	45573322	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1442331	45573322	13555661	1268	110357											
MARK4	57787	broad.mit.edu	37	chr19	45797635	45797635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctagcatgatgacccGcagaaacacctacgtttgca	7	15	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:45797635G>A	uc002pbb.1	+	14	1528	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	MARK4_uc002pba.1_Missense_Mutation_p.R508H			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	508					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			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGATGACCCGCAGAAACACC	0.587													A	45797635	G	A	45797635	3	1	198	1	0	0	0	0	1	0	0	0	9315	1087	38	1	1577	1	MARK4	19	45797635	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	224313	45797635	13331348	1269	110358											
IRF2BP1	26145	broad.mit.edu	37	chr19	46387358	46387358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatgaaggcccagggcaCggaggagccgaccagcgggc	17	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:46387358C>T	uc002pds.1	-	1	2019	c.1675G>A	c.(1675-1677)GTG>ATG	p.V559M		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		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)		GCCCAGGGCACGGAGGAGCCG	0.637													T	46387358	C	T	46387358	3	4	198	1	0	0	0	0	1	0	0	0	7829	536	19	1	83	1	IRF2BP1	19	46387358	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	589723	46387358	12741625	1270	110359											
PNMAL1	55228	broad.mit.edu	37	chr19	46973314	46973314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggcgcctcctgggctctCggcttctgcccgggcatcct	13	16	2	1	rs146703714	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:46973314C>T	uc002peq.3	-	2	1285	c.979G>A	c.(979-981)GAG>AAG	p.E327K	PNMAL1_uc002per.3_Missense_Mutation_p.E327K	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	327											0		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)		CCTGGGCTCTCGGCTTCTGCC	0.607													T	46973314	C	T	46973314	3	4	198	1	0	0	0	0	1	0	0	0	12157	893	31	1	370	1	PNMAL1	19	46973314	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	585956	46973314	12155669	1271	110360											
MEIS3	56917	broad.mit.edu	37	chr19	47912499	47912499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgctggtgtccagccCgtctcctgagggaaggcagg	16	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:47912499C>T	uc002pgu.2	-	8	1162	c.715G>A	c.(715-717)GGG>AGG	p.G239R	MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Missense_Mutation_p.G38R|MEIS3_uc002pgp.2_Missense_Mutation_p.G71R|MEIS3_uc002pgq.2_Missense_Mutation_p.G320R|MEIS3_uc002pgr.2_Missense_Mutation_p.G107R|MEIS3_uc002pgt.2_Missense_Mutation_p.G222R|MEIS3_uc002pgv.2_Missense_Mutation_p.G222R|MEIS3_uc002pgs.2_Missense_Mutation_p.G239R|MEIS3_uc010eld.2_Missense_Mutation_p.G239R	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	239	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		GTGTCCAGCCCGTCTCCTGAG	0.602													T	47912499	C	T	47912499	3	4	198	1	0	0	0	0	1	0	0	0	9469	652	23	1	570	1	MEIS3	19	47912499	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	939185	47912499	11216484	1272	110361											
TMEM143	55260	broad.mit.edu	37	chr19	48845964	48845964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcaccttcagctccggCagcagctgctccaggccttc	11	17	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:48845964C>T	uc002pix.1	-	6	807	c.798G>A	c.(796-798)CTG>CTA	p.L266L	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Silent_p.L231L|TMEM143_uc010xzn.1_Silent_p.L201L|TMEM143_uc010elw.1_Silent_p.L166L|TMEM143_uc010xzo.1_Silent_p.L56L	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	266						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TCAGCTCCGGCAGCAGCTGCT	0.637													T	48845964	C	T	48845964	2	4	198	1	0	0	0	0	0	0	0	1	16054	697	25	2		2	TMEM143	19	48845964	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	933465	48845964	10283019	1273	110362											
SPHK2	56848	broad.mit.edu	37	chr19	49132082	49132082	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtctgtggcctggggcttCgtgtcagatgtggatatcca	14	9	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:49132082C>T	uc002pjr.2	+	7	1383	c.1017C>T	c.(1015-1017)TTC>TTT	p.F339F	SPHK2_uc010xzt.1_Silent_p.F280F|SPHK2_uc002pjs.2_Silent_p.F339F|SPHK2_uc002pjt.2_Silent_p.F133F|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.F303F|SPHK2_uc002pjw.2_Silent_p.F401F	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	339					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			lung(1)	1		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)		CCTGGGGCTTCGTGTCAGATG	0.657													T	49132082	C	T	49132082	2	4	198	1	0	0	0	0	0	0	0	1	15046	883	31	1		1	SPHK2	19	49132082	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	286118	49132082	9996901	1274	110363											
FUT1	2523	broad.mit.edu	37	chr19	49253910	49253910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgacaaaggtgcgcgggCggtcccctgtgcggcccagg	17	15	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:49253910C>T	uc002pkk.2	-	4	1604	c.629G>A	c.(628-630)CGC>CAC	p.R210H		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	210	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGTGCGCGGGCGGTCCCCTGT	0.677													T	49253910	C	T	49253910	3	4	198	1	0	0	0	0	1	0	0	0	6101	768	27	1	472	1	FUT1	19	49253910	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	121828	49253910	9875073	1275	110364											
PPFIA3	8541	broad.mit.edu	37	chr19	49651461	49651461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgctcgaatgttagatcAccttaacaagaaggagctcc	10	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:49651461A>G	uc002pmr.2	+	24	3289	c.2957A>G	c.(2956-2958)CAC>CGC	p.H986R	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.H845R|PPFIA3_uc002pmt.2_Missense_Mutation_p.H125R|PPFIA3_uc002pmu.1_Missense_Mutation_p.H35R	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	986	SAM 2.					cell surface|cytoplasm	protein binding			lung(1)	1		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)		ATGTTAGATCACCTTAACAAG	0.607													G	49651461	A	G	49651461	3	3	198	1	0	0	0	0	1	0	0	0	12311	159	6	3	3047	3	PPFIA3	19	49651461	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	397551	49651461	9477522	1276	110365											
MED25	81857	broad.mit.edu	37	chr19	50332236	50332236	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcctggtagtggccagacGcaccgggtctgcctcctcat	11	14	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:50332236G>T	uc002ppw.1	+	5	467	c.414G>T	c.(412-414)ACG>ACT	p.T138T	MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'Flank	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	138	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		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)		GTGGCCAGACGCACCGGGTCT	0.562													T	50332236	G	T	50332236	2	4	198	1	0	0	0	0	0	0	0	1	9443	1074	38	5		5	MED25	19	50332236	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	680775	50332236	8796747	1277	110366											
NUP62	23636	broad.mit.edu	37	chr19	50411536	50411536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgctcctgctccttgCgccggccctcgcacaccttg	10	19	0	0	rs142980354		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:50411536C>T	uc002pqx.2	-	2	1633	c.1529G>A	c.(1528-1530)CGC>CAC	p.R510H	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.R510H|NUP62_uc002pqz.2_Missense_Mutation_p.R510H|NUP62_uc002pra.2_Missense_Mutation_p.R510H|NUP62_uc002prb.2_Missense_Mutation_p.R510H|NUP62_uc002prc.2_Missense_Mutation_p.R434H	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	510					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGCTCCTTGCGCCGGCCCTC	0.632													T	50411536	C	T	50411536	3	4	198	1	0	0	0	0	1	0	0	0	10768	768	27	1	43	1	NUP62	19	50411536	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	79300	50411536	8717447	1278	110367											
POLD1	5424	broad.mit.edu	37	chr19	50918097	50918097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccatacctgcttatcaGcaagaagcgctacgcgggcc	9	15	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:50918097G>A	uc002psb.3	+	20	2470	c.2414G>A	c.(2413-2415)AGC>AAC	p.S805N	POLD1_uc002psc.3_Missense_Mutation_p.S805N|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.S831N	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	805					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			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGCTTATCAGCAAGAAGCGC	0.657								DNA_polymerases_(catalytic_subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50918097	G	A	50918097	3	1	198	1	0	0	0	0	1	0	0	0	12190	971	34	2	2488	2	POLD1	19	50918097	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	506561	50918097	8210886	1279	110368											
KLK1	3816	broad.mit.edu	37	chr19	51326963	51326964	+	Frame_Shift_Ins	INS	-	-	C													cccccactgtctcaccagtcINSccccccagggacagggcgag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:51326962_51326963T>TC	uc002ptk.1	-	0	81_82	c.42_43A>GA	c.(40-45)gggactfs	p.G14fs	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	14					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													C	51326964	-	C	51326963	7	5	198	1	0	1	1	0	0	0	0	0	8397	842	30	0	766	0	KLK1	19	51326963	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	408866	51326963	7802020	1280	110369											
SIGLEC6	946	broad.mit.edu	37	chr19	52034030	52034031	+	Frame_Shift_Ins	INS	-	-	G													gctgtggtcctggggccgtgINSgggtgattgtgagcaccgag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52034029_52034030T>TG	uc002pwy.3	-	2	819_820	c.611_612A>CA	c.(610-612)ccafs	p.P204fs	SIGLEC6_uc002pwz.3_Frame_Shift_Ins_p.P204fs|SIGLEC6_uc010ydb.2_Frame_Shift_Ins_p.P168fs|SIGLEC6_uc010ydc.2_Frame_Shift_Ins_p.P204fs|SIGLEC6_uc002pxa.3_Frame_Shift_Ins_p.P204fs|SIGLEC6_uc010eoz.2_Frame_Shift_Ins_p.P193fs|SIGLEC6_uc010epa.2_Frame_Shift_Ins_p.P193fs|SIGLEC6_uc010epb.2_Frame_Shift_Ins_p.P157fs	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	204	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.T203N(1)		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)		CCTGGGGCCGTGGGGTGATTGT	0.634													G	52034031	-	G	52034030	7	5	198	1	0	1	1	0	0	0	0	0	14312	1348	47	0	807	0	SIGLEC6	19	52034030	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	707067	52034030	7094953	1281	110370											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115647	52115647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcttgatctccggggCtgtctggccagggcttcttc	14	11	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52115647C>T	uc002pxe.2	-	9	1632	c.1493G>A	c.(1492-1494)AGC>AAC	p.S498N		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	498	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ATCTCCGGGGCTGTCTGGCCA	0.478													T	52115647	C	T	52115647	3	4	198	1	0	0	0	0	1	0	0	0	14311	797	28	2	166	2	SIGLEC5	19	52115647	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	81617	52115647	7013336	1282	110371											
SIGLEC5	8778	broad.mit.edu	37	chr19	52131208	52131208	+	Frame_Shift_Del	DEL	G	G	-													aagatcccggtattggagatGggggtggcgttcagggcagg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52131207_52131207TG>T	uc002pxe.3	-	4	1016	c.877_877CA>A	c.(877-879)atcfs	p.I293fs		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	293	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GTATTGGAGATGGGGGTGGCG	0.627													-	52131208	G	-	52131208	7	5	198	1	0	1	0	1	0	0	0	0	14311	1335	47	0	799	0	SIGLEC5	19	52131208	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	15561	52131208	6997775	1283	110372											
FPR1	2357	broad.mit.edu	37	chr19	52250065	52250065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggttcaggtaactgatGgtggtgactgtgtgtgtcat	15	6	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52250065G>A	uc002pxq.2	-	2	278	c.183C>T	c.(181-183)ACC>ACT	p.T61T		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	61	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGTAACTGATGGTGGTGACTG	0.542													A	52250065	G	A	52250065	2	1	198	1	0	0	0	0	0	0	0	1	6038	1335	47	4		4	FPR1	19	52250065	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	118857	52250065	6878918	1284	110373											
ZNF616	90317	broad.mit.edu	37	chr19	52619248	52619248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagacttgaacgtttactgAagaccttgccacattcattg	7	10	1	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52619248A>G	uc002pym.2	-	4	1452	c.1169T>C	c.(1168-1170)TTC>TCC	p.F390S	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	390	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACGTTTACTGAAGACCTTGCC	0.418													G	52619248	A	G	52619248	3	3	198	1	0	0	0	0	1	0	0	0	18038	246	9	3	1180	3	ZNF616	19	52619248	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	369183	52619248	6509735	1285	110374											
ZNF578	147660	broad.mit.edu	37	chr19	53015138	53015138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcatctcttccatgccatCgtagacttcatagtggtgag	10	10	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:53015138C>T	uc002pzp.3	+	6	1748	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	277	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCATGCCATCGTAGACTTCA	0.403													T	53015138	C	T	53015138	3	4	198	1	0	0	0	0	1	0	0	0	18007	884	31	1	1514	1	ZNF578	19	53015138	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	395890	53015138	6113845	1286	110375											
ZNF415	55786	broad.mit.edu	37	chr19	53611976	53611976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcccacactcattacacTtgtaaggtttctctccagta	4	13	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:53611976T>C	uc002qax.2	-	7	1815	c.1466A>G	c.(1465-1467)AAG>AGG	p.K489R	ZNF415_uc002qat.2_Missense_Mutation_p.K453R|ZNF415_uc002qaw.2_Missense_Mutation_p.K441R|ZNF415_uc010yds.1_Missense_Mutation_p.K441R|ZNF415_uc010ydt.1_Missense_Mutation_p.K441R|ZNF415_uc002qau.2_Missense_Mutation_p.K428R|ZNF415_uc002qav.2_Missense_Mutation_p.K453R|ZNF415_uc002qba.2_Missense_Mutation_p.K211R|ZNF415_uc002qay.2_Missense_Mutation_p.K428R|ZNF415_uc002qaz.2_Missense_Mutation_p.K489R	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	489	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		CTCATTACACTTGTAAGGTTT	0.418													C	53611976	T	C	53611976	3	2	198	1	0	0	0	0	1	0	0	0	17889	1609	56	3	349	3	ZNF415	19	53611976	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	596838	53611976	5517007	1287	110376											
VN1R4	317703	broad.mit.edu	37	chr19	53770718	53770718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatctaaccccaaaagcTgccattgtctgggggactcc	8	12	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:53770718T>C	uc010ydu.1	-	1	201	c.201A>G	c.(199-201)GCA>GCG	p.A67A		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	67	Helical; Name=2; (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		CCCCAAAAGCTGCCATTGTCT	0.488										HNSCC(26;0.072)			C	53770718	T	C	53770718	2	2	198	1	0	0	0	0	0	0	0	1	17177	1567	55	3		3	VN1R4	19	53770718	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	158742	53770718	5358265	1288	110377											
LENG8	114823	broad.mit.edu	37	chr19	54967257	54967257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggggcgggggtgccccGtcccagcgagggacgcccgg	19	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:54967257G>A	uc002qfv.1	+	8	1170	c.1026G>A	c.(1024-1026)CCG>CCA	p.P342P	LENG8_uc002qfw.2_Silent_p.P379P			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	342							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGTGCCCCGTCCCAGCGAG	0.672													A	54967257	G	A	54967257	2	1	198	1	0	0	0	0	0	0	0	1	8724	1132	40	1		1	LENG8	19	54967257	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1196539	54967257	4161726	1289	110378											
LILRB1	10859	broad.mit.edu	37	chr19	55144563	55144563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagtcacagggatggaTgcaaactttccttctgacca	10	10	3	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:55144563T>C	uc002qgj.2	+	8	1395	c.1055T>C	c.(1054-1056)ATG>ACG	p.M352T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.M352T|LILRB1_uc002qgk.2_Missense_Mutation_p.M352T|LILRB1_uc002qgm.2_Missense_Mutation_p.M352T|LILRB1_uc010erq.2_Missense_Mutation_p.M352T|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	352	Ig-like C2-type 4.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CAGGGATGGATGCAAACTTTC	0.557										HNSCC(37;0.09)			C	55144563	T	C	55144563	3	2	198	1	0	0	0	0	1	0	0	0	8790	1464	51	3	1077	3	LILRB1	19	55144563	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	177306	55144563	3984420	1290	110379											
SYT5	6861	broad.mit.edu	37	chr19	55686555	55686555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctcctcccgcggagcCgcctgcagctcccgccaggc	10	22	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:55686555C>T	uc002qjm.1	-	5	1753	c.693G>A	c.(691-693)GCG>GCA	p.A231A	SYT5_uc002qjp.2_Silent_p.A228A|SYT5_uc002qjn.1_Silent_p.A231A|SYT5_uc002qjo.1_Silent_p.A231A	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	231	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCCGCGGAGCCGCCTGCAGCT	0.692													T	55686555	C	T	55686555	2	4	198	1	0	0	0	0	0	0	0	1	15474	639	23	1		1	SYT5	19	55686555	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	541992	55686555	3442428	1291	110380											
EPN1	29924	broad.mit.edu	37	chr19	56203184	56203184	+	Frame_Shift_Del	DEL	G	G	-													tgccccgaccacagacccctGggggggcccagcacccatgg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:56203183_56203183TG>T	uc002qlw.3	+	6	1168	c.826_826TG>T	c.(826-828)tggfs	p.W276fs	EPN1_uc002qlv.3_Frame_Shift_Del_p.W251fs|EPN1_uc010etd.3_Frame_Shift_Del_p.W276fs|EPN1_uc002qlx.3_Frame_Shift_Del_p.W362fs	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	276	8 X 3 AA repeats of [ED]-P-W.|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)		CACAGACCCCTGGGGGGGCCC	0.692													-	56203184	G	-	56203184	7	5	198	1	0	1	0	1	0	0	0	0	5185	1357	47	0	1190	0	EPN1	19	56203184	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	516629	56203184	2925799	1292	110381											
ZNF543	125919	broad.mit.edu	37	chr19	57839961	57839961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtggaaaagctttttgCgagagtgcagacctcattca	12	7	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:57839961C>T	uc002qoi.1	+	4	1476	c.1131C>T	c.(1129-1131)TGC>TGT	p.C377C		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	377	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		AAGCTTTTTGCGAGAGTGCAG	0.512													T	57839961	C	T	57839961	2	4	198	1	0	0	0	0	0	0	0	1	17973	776	27	1		1	ZNF543	19	57839961	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1636777	57839961	1289022	1293	110382											
ZNF671	79891	broad.mit.edu	37	chr19	58232616	58232616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgatacctctgtcccaTgagaaagccactcacaagct	7	14	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:58232616T>C	uc002qpz.3	-	4	937	c.838A>G	c.(838-840)ATG>GTG	p.M280V	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.M203V|ZNF671_uc010yhf.1_Missense_Mutation_p.M182V	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CTCTGTCCCATGAGAAAGCCA	0.517													C	58232616	T	C	58232616	3	2	198	1	0	0	0	0	1	0	0	0	18075	1464	51	3	770	3	ZNF671	19	58232616	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	392655	58232616	896367	1294	110383											
ZNF552	79818	broad.mit.edu	37	chr19	58319437	58319437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttcttttgtgaactctctGatgatgacgaagtgaagaga	10	6	2	6			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:58319437G>A	uc002qqg.2	-	3	1365	c.1195C>T	c.(1195-1197)CAG>TAG	p.Q399*	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Nonsense_Mutation_p.Q395*	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	399	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0259)		TGAACTCTCTGATGATGACGA	0.408													A	58319437	G	A	58319437	4	1	198	1	0	0	0	0	0	1	0	0	17981	1299	45	4	32	4	ZNF552	19	58319437	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	86821	58319437	809546	1295	110384											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565272	58565272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagggcccccgggagtcCgtcccacccagggatggagc	15	15	0	0	rs144381428		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:58565272C>T	uc002qrc.1	+	6	1327	c.1080C>T	c.(1078-1080)TCC>TCT	p.S360S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	360					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCGGGAGTCCGTCCCACCCA	0.662													T	58565272	C	T	58565272	2	4	198	1	0	0	0	0	0	0	0	1	18223	639	23	1		1	ZSCAN1	19	58565272	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	245835	58565272	563711	1296	110385											
MZF1	7593	broad.mit.edu	37	chr19	59074394	59074394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcacgaagccctggccaCagtcgccgcacacgaacggc	12	17	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:59074394C>A	uc002qto.2	-	6	1811	c.1250G>T	c.(1249-1251)TGT>TTT	p.C417F	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.C417F	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	417	C2H2-type 3.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		GCCCTGGCCACAGTCGCCGCA	0.687													A	59074394	C	A	59074394	3	1	198	1	0	0	0	0	1	0	0	0	10108	478	17	5	958	5	MZF1	19	59074394	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	509122	59074394	54589	1297	110386											
NSFL1C	55968	broad.mit.edu	37	chr20	1444988	1444988	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacctgggggctgtgccTctggacactgaactgggggt	15	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:1444988T>C	uc002wfc.2	-	2	1137	c.189A>G	c.(187-189)AGA>AGG	p.R63R	NSFL1C_uc002wfd.2_Intron|NSFL1C_uc002wfe.2_Silent_p.R63R|NSFL1C_uc002wff.2_RNA	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	63						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						GGGCTGTGCCTCTGGACACTG	0.532													C	1444988	T	C	1444988	2	2	198	1	0	0	0	0	0	0	0	1	10672	1548	54	3		3	NSFL1C	20	1444988	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08		1444988	61580532	1298	110387											
C20orf194	25943	broad.mit.edu	37	chr20	3362099	3362099	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaaaccaaatagaagAtaatttgccagctctctgca	6	9	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:3362099A>G	uc002wii.2	-	3	261	c.210T>C	c.(208-210)TAT>TAC	p.Y70Y	C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	70											0						CAAATAGAAGATAATTTGCCA	0.403													G	3362099	A	G	3362099	2	3	198	1	0	0	0	0	0	0	0	1	2099	340	12	3		3	C20orf194	20	3362099	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1917111	3362099	59663421	1299	110388											
PANK2	80025	broad.mit.edu	37	chr20	3897602	3897602	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgatgagcaaggagaagCgagaggctgtcagtaaagag	15	5	1	5	rs137852968		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:3897602C>T	uc002wkc.2	+	5	1447	c.1441C>T	c.(1441-1443)CGA>TGA	p.R481*	PANK2_uc002wkb.2_Nonsense_Mutation_p.R190*|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Nonsense_Mutation_p.R190*|PANK2_uc002wkf.2_Nonsense_Mutation_p.R45*|uc002wkg.2_5'Flank|MIR103-2_hsa-mir-103-2|MI0000108_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	481					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						CAAGGAGAAGCGAGAGGCTGT	0.443													T	3897602	C	T	3897602	4	4	198	1	0	0	0	0	0	1	0	0	11417	760	27	1	1459	1	PANK2	20	3897602	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	535503	3897602	59127918	1300	110389											
RASSF2	9770	broad.mit.edu	37	chr20	4776521	4776521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggagggggtcgaatgCgttcgttgtcatcctgcatc	15	8	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:4776521C>T	uc002wld.2	-	4	281	c.227G>A	c.(226-228)CGC>CAC	p.R76H	RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R76H	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	76					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						GGGTCGAATGCGTTCGTTGTC	0.622													T	4776521	C	T	4776521	3	4	198	1	0	0	0	0	1	0	0	0	13086	768	27	1	785	1	RASSF2	20	4776521	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	878919	4776521	58248999	1301	110390											
C20orf7	79133	broad.mit.edu	37	chr20	13773858	13773858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtttttccaagctgacatTgcagaaaatgctttggtagg	10	6	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:13773858T>C	uc002wom.2	+	4	393	c.360T>C	c.(358-360)ATT>ATC	p.I120I	C20orf7_uc002wol.1_Silent_p.I120I|C20orf7_uc002won.2_Missense_Mutation_p.L127S|C20orf7_uc002woo.2_RNA	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	120					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)				AAGCTGACATTGCAGAAAATG	0.323													C	13773858	T	C	13773858	2	2	198	1	0	0	0	0	0	0	0	1	2115	1821	63	3		3	C20orf7	20	13773858	Silent	SNP	T	TCGA-CG-5733-01A-11D-1600-08	8997337	13773858	49251662	1302	110391											
OTOR	56914	broad.mit.edu	37	chr20	16729076	16729076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattgttacttttcctcccGggtcttgtggctgtatgtgc	10	9	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:16729076G>A	uc002wpj.2	+	1	74	c.30G>A	c.(28-30)CCG>CCA	p.P10P	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	10					sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						TTTTCCTCCCGGGTCTTGTGG	0.433													A	16729076	G	A	16729076	2	1	198	1	0	0	0	0	0	0	0	1	11308	1103	39	1		1	OTOR	20	16729076	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2955218	16729076	46296444	1303	110392											
DSTN	11034	broad.mit.edu	37	chr20	17587777	17587777	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttaattgtagcctttgaaGgatgccctgtgtagattatt	9	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:17587777G>T	uc002wpr.2	+	4	739	c.484G>T	c.(484-486)GGA>TGA	p.G162*	DSTN_uc002wpq.2_Nonsense_Mutation_p.G145*|DSTN_uc010gck.2_Nonsense_Mutation_p.G145*	NM_006870	NP_006861	P60981	DEST_HUMAN	destrin isoform a	162					actin filament severing|actin polymerization or depolymerization		actin binding			large_intestine(1)|skin(1)	2						AGCCTTTGAAGGATGCCCTGT	0.373													T	17587777	G	T	17587777	4	4	198	1	0	0	0	0	0	1	0	0	4784	1001	35	5	498	5	DSTN	20	17587777	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	858701	17587777	45437743	1304	110393											
CD93	22918	broad.mit.edu	37	chr20	23065495	23065495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggaaggacccttgtgtGttgaagcacaagctgtcgca	13	9	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:23065495G>A	uc002wsv.2	-	1	1483	c.1335C>T	c.(1333-1335)AAC>AAT	p.N445N		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	445	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACCCTTGTGTGTTGAAGCACA	0.657													A	23065495	G	A	23065495	2	1	198	1	0	0	0	0	0	0	0	1	3047	1368	48	4		4	CD93	20	23065495	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5477718	23065495	39960025	1305	110394											
GZF1	64412	broad.mit.edu	37	chr20	23346303	23346303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggctgcacgagcgcaCacacacgggagaccggccct	14	16	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:23346303C>T	uc010gdb.2	+	3	1457	c.1283C>T	c.(1282-1284)ACA>ATA	p.T428I	GZF1_uc002wsy.2_Missense_Mutation_p.T428I|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.T428I	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	428	C2H2-type 4.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACGAGCGCACACACACGGGA	0.716													T	23346303	C	T	23346303	3	4	198	1	0	0	0	0	1	0	0	0	6914	478	17	4	1285	4	GZF1	20	23346303	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	280808	23346303	39679217	1306	110395											
C20orf160	140706	broad.mit.edu	37	chr20	30610484	30610484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcagaggagtcctgcGcactcatctgtcaggtcttc	11	13	4	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:30610484G>A	uc002wxf.2	+	6	968	c.955G>A	c.(955-957)GCA>ACA	p.A319T	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	319										central_nervous_system(3)|ovary(1)	4						GGAGTCCTGCGCACTCATCTG	0.562													A	30610484	G	A	30610484	3	1	198	1	0	0	0	0	1	0	0	0	2093	1087	38	1	977	1	C20orf160	20	30610484	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7264181	30610484	32415036	1307	110396											
C20orf185	359710	broad.mit.edu	37	chr20	31656644	31656644	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcaccagcaactcctActgttcctgcgggtgaggga	11	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:31656644A>G	uc002wym.1	+	10	1014	c.1014A>G	c.(1012-1014)CTA>CTG	p.L338L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	338					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						AGCAACTCCTACTGTTCCTGC	0.522													G	31656644	A	G	31656644	2	3	198	1	0	0	0	0	0	0	0	1	2097	378	14	3		3	C20orf185	20	31656644	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1046160	31656644	31368876	1308	110397											
CPNE1	8904	broad.mit.edu	37	chr20	34214277	34214277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacttctgcgagcacGgtctgtgccaatgcctcccg	13	14	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:34214277G>A	uc002xdf.2	-	18	1863	c.1500C>T	c.(1498-1500)ACC>ACT	p.T500T	CPNE1_uc002xdc.2_Silent_p.T162T|CPNE1_uc010zvj.1_Silent_p.T505T|CPNE1_uc002xde.2_Silent_p.T476T|CPNE1_uc002xdg.2_Silent_p.T444T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.T500T|CPNE1_uc002xdi.2_Silent_p.T500T|CPNE1_uc002xdj.2_Silent_p.T500T|CPNE1_uc002xdk.2_Silent_p.T500T|CPNE1_uc002xdl.2_Silent_p.T500T|CPNE1_uc002xdm.2_Silent_p.T500T	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	500	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGCGAGCACGGTCTGTGCCA	0.587													A	34214277	G	A	34214277	2	1	198	1	0	0	0	0	0	0	0	1	3811	1103	39	1		1	CPNE1	20	34214277	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2557633	34214277	28811243	1309	110398											
RBL1	5933	broad.mit.edu	37	chr20	35668582	35668582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagactcccactgtcagttCgaacttccttgactcttggg	9	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:35668582C>T	uc002xgi.2	-	14	1956	c.1877G>A	c.(1876-1878)CGA>CAA	p.R626Q	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.R626Q	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	626	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ACTGTCAGTTCGAACTTCCTT	0.413													T	35668582	C	T	35668582	3	4	198	1	0	0	0	0	1	0	0	0	13109	884	31	1	1374	1	RBL1	20	35668582	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1454305	35668582	27356938	1310	110399											
RALGAPB	57148	broad.mit.edu	37	chr20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-													aagtgctgctgtcagtaccaCccccccacataaccggaggc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(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						TGTCAGTACCACCCCCCCACA	0.443													-	37146233	C	-	37146233	7	5	198	1	0	1	0	1	0	0	0	0	13015	507	18	0	1162	0	RALGAPB	20	37146233	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	1477651	37146233	25879287	1311	110400											
PLCG1	5335	broad.mit.edu	37	chr20	39791364	39791364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtacagcgcccagaagaCggtgcatgagccacctgccc	11	15	0	3	rs141297485		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:39791364C>T	uc002xjp.1	+	6	801	c.680C>T	c.(679-681)ACG>ATG	p.T227M	PLCG1_uc002xjo.1_Missense_Mutation_p.T227M|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	227					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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GCCCAGAAGACGGTGCATGAG	0.642													T	39791364	C	T	39791364	3	4	198	1	0	0	0	0	1	0	0	0	12035	550	19	1	702	1	PLCG1	20	39791364	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2645131	39791364	23234156	1312	110401											
MATN4	8785	broad.mit.edu	37	chr20	43926646	43926646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcagttccgctggctcCgaggcgatctcgcgcagctc	13	15	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:43926646C>T	uc002xnn.2	-	8	1678	c.1491G>A	c.(1489-1491)TCG>TCA	p.S497S	MATN4_uc002xno.2_Silent_p.S456S|MATN4_uc002xnp.2_Silent_p.S415S|MATN4_uc010zwr.1_Silent_p.S445S|MATN4_uc002xnr.1_Silent_p.S497S	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	538	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CCGCTGGCTCCGAGGCGATCT	0.667													T	43926646	C	T	43926646	2	4	198	1	0	0	0	0	0	0	0	1	9336	639	23	1		1	MATN4	20	43926646	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4135282	43926646	19098874	1313	110402											
MATN4	8785	broad.mit.edu	37	chr20	43926973	43926973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccagccctgtcatggtGccgcgttccatgtactccac	9	16	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:43926973G>A	uc002xnn.2	-	7	1450	c.1263C>T	c.(1261-1263)GGC>GGT	p.G421G	MATN4_uc002xno.2_Silent_p.G380G|MATN4_uc002xnp.2_Silent_p.G339G|MATN4_uc010zwr.1_Silent_p.G369G|MATN4_uc002xnr.1_Silent_p.G421G	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	462	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTGTCATGGTGCCGCGTTCCA	0.677													A	43926973	G	A	43926973	2	1	198	1	0	0	0	0	0	0	0	1	9336	1306	46	2		2	MATN4	20	43926973	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	327	43926973	19098547	1314	110403											
TP53TG5	27296	broad.mit.edu	37	chr20	44003782	44003782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgcacatcaccctgggcGccgggaggtggattcgtgtg	15	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:44003782G>A	uc002xny.2	-	4	746	c.665C>T	c.(664-666)GCG>GTG	p.A222V	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	222					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						CACCCTGGGCGCCGGGAGGTG	0.602													A	44003782	G	A	44003782	3	1	198	1	0	0	0	0	1	0	0	0	16388	1087	38	1	215	1	TP53TG5	20	44003782	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	76809	44003782	19021738	1315	110404											
PCIF1	63935	broad.mit.edu	37	chr20	44569462	44569462	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacagattgaaatcccagtGacacccacaggccagtcggt	9	13	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:44569462G>A	uc002xqs.2	+	6	716	c.402G>A	c.(400-402)GTG>GTA	p.V134V		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	134						nucleus				skin(1)	1						AAATCCCAGTGACACCCACAG	0.542													A	44569462	G	A	44569462	2	1	198	1	0	0	0	0	0	0	0	1	11580	1277	45	4		4	PCIF1	20	44569462	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	565680	44569462	18456058	1316	110405											
SLC35C2	51006	broad.mit.edu	37	chr20	44979495	44979501	+	Frame_Shift_Del	DEL	AGCAGAT	AGCAGAT	-													ggaggctgatctgatcgcccAgcagatgagctgccaacagc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:44979494_44979500CAGCAGAT>C	uc010zxp.2	-	9	1047_1053	c.954_960ATCTGCTG>G	c.(952-960)catctgctgfs	p.H318fs	SLC35C2_uc002xro.3_Frame_Shift_Del_p.H289fs|SLC35C2_uc002xrp.3_Frame_Shift_Del_p.H268fs|SLC35C2_uc002xrq.3_Frame_Shift_Del_p.H289fs|SLC35C2_uc002xrr.3_Frame_Shift_Del_p.H289fs|SLC35C2_uc010zxn.2_Frame_Shift_Del_p.H154fs|SLC35C2_uc010zxo.2_Frame_Shift_Del_p.H175fs	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	289					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)				TCTGATCGCCCAGCAGATGAGCTGCCA	0.585													-	44979501	AGCAGAT	-	44979495	7	5	198	1	0	1	0	1	0	0	0	0	14580	188	7	0	233	0	SLC35C2	20	44979495	Frame_Shift_Del	DEL	AGCAGAT	TCGA-CG-5733-01A-11D-1600-08	410033	44979495	18046025	1317	110406											
ZMYND8	23613	broad.mit.edu	37	chr20	45905096	45905096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccatggactcctcgctcGcactgaagtggctcgacgtg	12	13	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:45905096G>A	uc002xta.1	-	11	1636	c.1382C>T	c.(1381-1383)GCG>GTG	p.A461V	ZMYND8_uc010ghq.1_Missense_Mutation_p.A138V|ZMYND8_uc010ghr.1_Missense_Mutation_p.A436V|ZMYND8_uc002xst.1_Missense_Mutation_p.A436V|ZMYND8_uc002xsu.1_Missense_Mutation_p.A461V|ZMYND8_uc002xsv.1_Missense_Mutation_p.A436V|ZMYND8_uc002xsw.1_Missense_Mutation_p.A213V|ZMYND8_uc002xsx.1_Missense_Mutation_p.A213V|ZMYND8_uc002xsy.1_Missense_Mutation_p.A436V|ZMYND8_uc002xsz.1_Missense_Mutation_p.A398V|ZMYND8_uc010zxy.1_Missense_Mutation_p.A488V|ZMYND8_uc002xtb.1_Missense_Mutation_p.A481V|ZMYND8_uc002xss.2_Missense_Mutation_p.A461V|ZMYND8_uc010zxz.1_Missense_Mutation_p.A456V|ZMYND8_uc002xtc.1_Missense_Mutation_p.A481V|ZMYND8_uc002xtd.1_Missense_Mutation_p.A456V|ZMYND8_uc002xte.1_Missense_Mutation_p.A461V|ZMYND8_uc010zya.1_Missense_Mutation_p.A461V|ZMYND8_uc002xtf.1_Missense_Mutation_p.A481V|ZMYND8_uc002xtg.2_Missense_Mutation_p.A455V|ZMYND8_uc010ghs.1_Missense_Mutation_p.A455V	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	461							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCCTCGCTCGCACTGAAGTG	0.632													A	45905096	G	A	45905096	3	1	198	1	0	0	0	0	1	0	0	0	17708	1087	38	1	2176	1	ZMYND8	20	45905096	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	925601	45905096	17120424	1318	110407											
PREX1	57580	broad.mit.edu	37	chr20	47266655	47266655	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggttgatgtggcaattggtGgggcagaagtccaggccaca	16	7	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:47266655G>T	uc002xtw.1	-	24	2930	c.2907C>A	c.(2905-2907)CCC>CCA	p.P969P	PREX1_uc002xtv.1_Silent_p.P266P	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	969					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCAATTGGTGGGGCAGAAGT	0.597													T	47266655	G	T	47266655	2	4	198	1	0	0	0	0	0	0	0	1	12476	1335	47	5		5	PREX1	20	47266655	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1361559	47266655	15758865	1319	110408											
STAU1	6780	broad.mit.edu	37	chr20	47734382	47734382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagaggtccatggggtaCgtggcctgaagagatgttat	16	6	0	3	rs146630196		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:47734382C>T	uc002xud.2	-	11	1852	c.1441G>A	c.(1441-1443)GTA>ATA	p.V481I	STAU1_uc002xua.2_Missense_Mutation_p.V400I|STAU1_uc002xub.2_Missense_Mutation_p.V406I|STAU1_uc002xuc.2_Missense_Mutation_p.V400I|STAU1_uc002xue.2_Missense_Mutation_p.V400I|STAU1_uc002xuf.2_Missense_Mutation_p.V406I|STAU1_uc002xug.2_Missense_Mutation_p.V481I	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	481						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCATGGGGTACGTGGCCTGAA	0.542													T	47734382	C	T	47734382	3	4	198	1	0	0	0	0	1	0	0	0	15271	536	19	1	308	1	STAU1	20	47734382	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	467727	47734382	15291138	1320	110409											
B4GALT5	9334	broad.mit.edu	37	chr20	48256216	48256216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaacggcagaggtaccTgttccagaggtcgtcatctt	12	9	2	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:48256216T>C	uc002xuu.3	-	7	1110	c.916A>G	c.(916-918)AGA>GGA	p.R306G		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	306	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CAGAGGTACCTGTTCCAGAGG	0.378													C	48256216	T	C	48256216	3	2	198	1	0	0	0	0	1	0	0	0	1274	1594	55	3	262	3	B4GALT5	20	48256216	Missense_Mutation	SNP	T	TCGA-CG-5733-01A-11D-1600-08	521834	48256216	14769304	1321	110410											
KCNG1	3755	broad.mit.edu	37	chr20	49626173	49626173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtgacggtcacgaagaGcaccgacaggcaggcgaaca	16	11	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:49626173G>A	uc002xwa.3	-	2	998	c.703C>T	c.(703-705)CTC>TTC	p.L235F	KCNG1_uc002xwb.2_Missense_Mutation_p.L235F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	235	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GTCACGAAGAGCACCGACAGG	0.706													A	49626173	G	A	49626173	3	1	198	1	0	0	0	0	1	0	0	0	8027	971	34	2	846	2	KCNG1	20	49626173	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1369957	49626173	13399347	1322	110411											
CASS4	57091	broad.mit.edu	37	chr20	55033652	55033652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgagatcctccgtggcaGcagtcacctctgcagcctgc	10	16	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:55033652G>A	uc002xxp.2	+	7	2435	c.2210G>A	c.(2209-2211)AGC>AAC	p.S737N	CASS4_uc002xxr.2_Missense_Mutation_p.S737N|CASS4_uc010zze.1_Missense_Mutation_p.S683N|CASS4_uc010gio.2_Missense_Mutation_p.S300N	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	737					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						CTCCGTGGCAGCAGTCACCTC	0.637													A	55033652	G	A	55033652	3	1	198	1	0	0	0	0	1	0	0	0	2683	971	34	2	2232	2	CASS4	20	55033652	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5407479	55033652	7991868	1323	110412											
BMP7	655	broad.mit.edu	37	chr20	55803373	55803373	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagtccttgtagatccGgaattcggctgccgtgacag	13	9	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:55803373G>T	uc010gip.1	-	2	1052	c.523C>A	c.(523-525)CGG>AGG	p.R175R	BMP7_uc010giq.1_Silent_p.R175R|BMP7_uc002xyc.2_Silent_p.R175R	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	175					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTGTAGATCCGGAATTCGGCT	0.532													T	55803373	G	T	55803373	2	4	198	1	0	0	0	0	0	0	0	1	1465	1115	39	5		5	BMP7	20	55803373	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	769721	55803373	7222147	1324	110413											
BMP7	655	broad.mit.edu	37	chr20	55840772	55840772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactcaccgaggttgacgAagctcatgaccatgtcggcg	11	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:55840772A>G	uc010gip.1	-	1	936	c.407T>C	c.(406-408)TTC>TCC	p.F136S	BMP7_uc010giq.1_Missense_Mutation_p.F136S|BMP7_uc002xyc.2_Missense_Mutation_p.F136S|uc010gir.1_5'Flank	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	136					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GAGGTTGACGAAGCTCATGAC	0.617													G	55840772	A	G	55840772	3	3	198	1	0	0	0	0	1	0	0	0	1465	246	9	3	916	3	BMP7	20	55840772	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	37399	55840772	7184748	1325	110414											
ZNF831	128611	broad.mit.edu	37	chr20	57769451	57769451	+	Frame_Shift_Del	DEL	C	C	-													ggtgggccccgacccgtgttCccccctccagcctggctcct							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:57769450_57769450TC>T	uc002yan.3	+	0	3376	c.3376_3376TC>T	c.(3376-3378)tccfs	p.S1126fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1126						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)					CGACCCGTGTTCCCCCCTCCA	0.667													-	57769451	C	-	57769451	7	5	198	1	0	1	0	1	0	0	0	0	18182	855	30	0	3379	0	ZNF831	20	57769451	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	1928679	57769451	5256069	1326	110415											
ZNF831	128611	broad.mit.edu	37	chr20	57769496	57769496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgccctcactcggcctcAgggtgtgcccccaggctggc	12	18	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:57769496A>G	uc002yan.2	+	1	3422	c.3422A>G	c.(3421-3423)CAG>CGG	p.Q1141R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1141						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACTCGGCCTCAGGGTGTGCCC	0.672													G	57769496	A	G	57769496	3	3	198	1	0	0	0	0	1	0	0	0	18182	188	7	3	3424	3	ZNF831	20	57769496	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	45	57769496	5256024	1327	110416											
PHACTR3	116154	broad.mit.edu	37	chr20	58348498	58348498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgctggccacgaagcacCgccaggacaggtgaggccct	16	14	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:58348498C>T	uc002yau.2	+	6	1383	c.916C>T	c.(916-918)CGC>TGC	p.R306C	PHACTR3_uc002yat.2_Missense_Mutation_p.R303C|PHACTR3_uc010zzw.1_Missense_Mutation_p.R265C|PHACTR3_uc002yav.2_Missense_Mutation_p.R265C|PHACTR3_uc002yaw.2_Missense_Mutation_p.R265C|PHACTR3_uc002yax.2_Missense_Mutation_p.R195C	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	306						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CACGAAGCACCGCCAGGACAG	0.687													T	58348498	C	T	58348498	3	4	198	1	0	0	0	0	1	0	0	0	11811	652	23	1	938	1	PHACTR3	20	58348498	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	579002	58348498	4677022	1328	110417											
CDH4	1002	broad.mit.edu	37	chr20	60503309	60503309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgacatcaacgacaaCgcccctgagctgctgcccaa	7	16	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:60503309C>T	uc002ybn.1	+	12	1847	c.1833C>T	c.(1831-1833)AAC>AAT	p.N611N	CDH4_uc002ybp.1_Silent_p.N537N	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	611	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627													T	60503309	C	T	60503309	2	4	198	1	0	0	0	0	0	0	0	1	3112	535	19	1		1	CDH4	20	60503309	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2154811	60503309	2522211	1329	110418											
LAMA5	3911	broad.mit.edu	37	chr20	60904112	60904112	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggatgagctgctggggCtacatggaggggcacgtggt	19	7	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:60904112C>T	uc002ycq.2	-	34	4303	c.4236_splice	c.e34-1	p.S1412_splice		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor						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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCTGGGGCTACATGGAGG	0.652													T	60904112	C	T	60904112	5	4	198	1	0	0	0	0	0	0	1	0	8609	811	28	2	7040	2	LAMA5	20	60904112	Splice_Site	SNP	C	TCGA-CG-5733-01A-11D-1600-08	400803	60904112	2121408	1330	110419											
COL20A1	57642	broad.mit.edu	37	chr20	61959716	61959716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcgactccttccacgagaAcaccaggccccccatgccca	7	19	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:61959716A>G	uc011aau.1	+	34	3747	c.3647A>G	c.(3646-3648)AAC>AGC	p.N1216S	COL20A1_uc011aav.1_Missense_Mutation_p.N1043S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1216					cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TTCCACGAGAACACCAGGCCC	0.662													G	61959716	A	G	61959716	3	3	198	1	0	0	0	0	1	0	0	0	3679	43	2	3	3719	3	COL20A1	20	61959716	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1055604	61959716	1065804	1331	110420											
EEF1A2	1917	broad.mit.edu	37	chr20	62126345	62126345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccacgatgagctgcttcAcacccagcgtgtaggccagc	11	16	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:62126345A>G	uc002yfd.1	-	3	535	c.434T>C	c.(433-435)GTG>GCG	p.V145A	EEF1A2_uc002yfe.1_Missense_Mutation_p.V145A|EEF1A2_uc010gkg.1_Missense_Mutation_p.V145A	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	145						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGCTGCTTCACACCCAGCGT	0.627													G	62126345	A	G	62126345	3	3	198	1	0	0	0	0	1	0	0	0	4924	159	6	3	977	3	EEF1A2	20	62126345	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	166629	62126345	899175	1332	110421											
SON	6651	broad.mit.edu	37	chr21	34921957	34921957	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaatctgagtcaaagacGaaatctcatgatgatgggaa	11	5	3	5			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:34921957G>A	uc002yse.1	+	3	469	c.420G>A	c.(418-420)ACG>ACA	p.T140T	SON_uc002ysb.1_Silent_p.T140T|SON_uc002ysc.2_Silent_p.T140T|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	140					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			ovary(4)|skin(2)	6						AGTCAAAGACGAAATCTCATG	0.303											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	34921957	G	A	34921957	2	1	198	1	0	0	0	0	0	0	0	1	14926	1045	37	1		1	SON	21	34921957	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08		34921957	13207938	1333	110422											
DOPEY2	9980	broad.mit.edu	37	chr21	37597930	37597930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggtctcggagctctgcGccctcctggtcttcctgctg	11	17	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:37597930G>A	uc002yvg.2	+	12	1517	c.1438G>A	c.(1438-1440)GCC>ACC	p.A480T	DOPEY2_uc011aeb.1_Missense_Mutation_p.A480T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	480					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GGAGCTCTGCGCCCTCCTGGT	0.517													A	37597930	G	A	37597930	3	1	198	1	0	0	0	0	1	0	0	0	4708	1087	38	1	1480	1	DOPEY2	21	37597930	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2675973	37597930	10531965	1334	110423											
DOPEY2	9980	broad.mit.edu	37	chr21	37603085	37603085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagggacagggatgggaCgcagagcctggcagccaatg	18	8	0	2	rs143591918		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:37603085C>T	uc002yvg.2	+	14	2082	c.2003C>T	c.(2002-2004)ACG>ATG	p.T668M	DOPEY2_uc011aeb.1_Missense_Mutation_p.T668M	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	668					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGGGATGGGACGCAGAGCCTG	0.542													T	37603085	C	T	37603085	3	4	198	1	0	0	0	0	1	0	0	0	4708	536	19	1	2053	1	DOPEY2	21	37603085	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	5155	37603085	10526810	1335	110424											
SIM2	6493	broad.mit.edu	37	chr21	38117346	38117346	+	Frame_Shift_Del	DEL	C	C	-													tgccagtggcattatgccaaCcccctagtgcctagcagctc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:38117345_38117345AC>A	uc002yvr.2	+	9	1540	c.1484_1484AC>A	c.(1483-1485)aacfs	p.N495fs	SIM2_uc002yvq.3_Frame_Shift_Del_p.N495fs	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	495	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						CATTATGCCAACCCCCTAGTG	0.602													-	38117346	C	-	38117346	7	5	198	1	0	1	0	1	0	0	0	0	14324	506	18	0	1523	0	SIM2	21	38117346	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	514261	38117346	10012549	1336	110425											
ZNF295	49854	broad.mit.edu	37	chr21	43411449	43411449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagctgcttatgcaccGtgaacatcttcccacacttc	6	16	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:43411449G>A	uc002zab.3	-	3	2970	c.2756C>T	c.(2755-2757)ACG>ATG	p.T919M	ZNF295_uc002yzz.3_Missense_Mutation_p.T718M|ZNF295_uc002yzy.3_Missense_Mutation_p.T919M|ZNF295_uc002zaa.3_Missense_Mutation_p.T919M	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	919	C2H2-type 6; atypical.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	p.T919P(1)		ovary(1)|central_nervous_system(1)|skin(1)	3						CTTATGCACCGTGAACATCTT	0.537													A	43411449	G	A	43411449	3	1	198	1	0	0	0	0	1	0	0	0	17824	1145	40	1	448	1	ZNF295	21	43411449	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	5294103	43411449	4718446	1337	110426											
RSPH1	89765	broad.mit.edu	37	chr21	43897412	43897412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccacactctcagctcctGgagcgtcttggccaggtcca	10	17	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:43897412G>A	uc002zbg.2	-	7	821	c.716C>T	c.(715-717)CCA>CTA	p.P239L		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	239					meiosis	cytosol|nucleus				ovary(1)	1						CTCAGCTCCTGGAGCGTCTTG	0.637													A	43897412	G	A	43897412	3	1	198	1	0	0	0	0	1	0	0	0	13702	1348	47	4	225	4	RSPH1	21	43897412	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	485963	43897412	4232483	1338	110427											
PDXK	8566	broad.mit.edu	37	chr21	45175603	45175603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgagaagaccgtgtctAccttgcaccacgttctgcag	10	13	2	2	rs145229797	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:45175603A>G	uc002zdm.3	+	10	982	c.784A>G	c.(784-786)ACC>GCC	p.T262A	PDXK_uc010gpj.2_Intron|PDXK_uc002zdn.3_Missense_Mutation_p.T234A|PDXK_uc002zdq.3_Missense_Mutation_p.T189A	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	262					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				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GACCGTGTCTACCTTGCACCA	0.647													G	45175603	A	G	45175603	3	3	198	1	0	0	0	0	1	0	0	0	11697	391	14	3	822	3	PDXK	21	45175603	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1278191	45175603	2954292	1339	110428											
TRPM2	7226	broad.mit.edu	37	chr21	45833838	45833838	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaagcctaagtgcccCgagagcgacgcgacgcagca	11	16	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:45833838C>A	uc002zet.1	+	21	3240	c.3027C>A	c.(3025-3027)CCC>CCA	p.P1009P	TRPM2_uc002zeu.1_Silent_p.P1009P|TRPM2_uc002zew.1_Silent_p.P1009P|TRPM2_uc010gpt.1_Silent_p.P1009P|TRPM2_uc002zex.1_Silent_p.P795P|TRPM2_uc002zey.1_Silent_p.P522P	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1009	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTAAGTGCCCCGAGAGCGACG	0.617													A	45833838	C	A	45833838	2	1	198	1	0	0	0	0	0	0	0	1	16583	639	23	5		5	TRPM2	21	45833838	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	658235	45833838	2296057	1340	110429											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021324	46021324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctcccaaagccagcAgggctgctgcgtgcccgtct	10	18	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:46021324A>G	uc002zfn.3	+	2	813	c.788A>G	c.(787-789)CAG>CGG	p.Q263R	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	268	30 X 5 AA repeats of C-C-X(3).					keratin filament					0						CAAAGCCAGCAGGGCTGCTGC	0.627													G	46021324	A	G	46021324	3	3	198	1	0	0	0	0	1	0	0	0	8514	188	7	3	794	3	KRTAP10-7	21	46021324	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	187486	46021324	2108571	1341	110430											
PCNT	5116	broad.mit.edu	37	chr21	47754538	47754538	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagtcagtgaccacccAccagaacagcgtgggatgtt	10	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:47754538A>G	uc002zji.3	+	3	602	c.495A>G	c.(493-495)CCA>CCG	p.P165P	PCNT_uc002zjj.2_Silent_p.P47P|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	165					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GTGACCACCCACCAGAACAGC	0.547													G	47754538	A	G	47754538	2	3	198	1	0	0	0	0	0	0	0	1	11590	146	6	3		3	PCNT	21	47754538	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1733214	47754538	375357	1342	110431											
PCNT	5116	broad.mit.edu	37	chr21	47855992	47855992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagcagcgagagctggAggcgatgaggcagcggctgc	19	9	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:47855992A>G	uc002zji.3	+	39	9034	c.8927A>G	c.(8926-8928)GAG>GGG	p.E2976G	PCNT_uc002zjj.2_Missense_Mutation_p.E2779G	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2976	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CGAGAGCTGGAGGCGATGAGG	0.697													G	47855992	A	G	47855992	3	3	198	1	0	0	0	0	1	0	0	0	11590	304	11	3	9081	3	PCNT	21	47855992	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	101454	47855992	273903	1343	110432											
MICAL3	57553	broad.mit.edu	37	chr22	18300751	18300751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctccttggccaggggcGggtggcgaggcttctcgggg	19	11	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:18300751G>A	uc002zng.3	-	26	5029	c.4676C>T	c.(4675-4677)CCG>CTG	p.P1559L	MICAL3_uc011agl.1_Missense_Mutation_p.P1475L|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1559						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCCAGGGGCGGGTGGCGAGG	0.657													A	18300751	G	A	18300751	3	1	198	1	0	0	0	0	1	0	0	0	9571	1116	39	1	1360	1	MICAL3	22	18300751	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08		18300751	33003815	1344	110433											
TXNRD2	10587	broad.mit.edu	37	chr22	19898899	19898899	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcacgcgcaggccttaCgtttttccaggggattcctt	10	13	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:19898899C>T	uc011ahc.1	-	8	695	c.662_splice	c.e8+1	p.T221_splice	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_Splice_Site|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_Splice_Site|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Splice_Site_p.T220_splice|TXNRD2_uc010grv.1_Splice_Site_p.T221_splice|TXNRD2_uc002zqj.1_Splice_Site|TXNRD2_uc002zqs.2_Splice_Site_p.T189_splice	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor						cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					GCAGGCCTTACGTTTTTCCAG	0.522													T	19898899	C	T	19898899	5	4	198	1	0	0	0	0	0	0	1	0	16805	550	19	1	951	1	TXNRD2	22	19898899	Splice_Site	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1598148	19898899	31405667	1345	110434											
TRMT2A	27037	broad.mit.edu	37	chr22	20100980	20100980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcgttcacccgggcGtcctccacagcctctgggca	12	17	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:20100980G>A	uc002zrk.1	-	10	1622	c.1407C>T	c.(1405-1407)GAC>GAT	p.D469D	TRMT2A_uc002zrl.1_Silent_p.D469D|TRMT2A_uc002zrm.1_Silent_p.D291D|TRMT2A_uc002zrn.1_Silent_p.D487D	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	469					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						TCACCCGGGCGTCCTCCACAG	0.652													A	20100980	G	A	20100980	2	1	198	1	0	0	0	0	0	0	0	1	16562	1136	40	1		1	TRMT2A	22	20100980	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	202081	20100980	31203586	1346	110435											
KLHL22	84861	broad.mit.edu	37	chr22	20819491	20819491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcttgtcatgcagccGctgcaggacctcagcttcca	10	15	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:20819491G>A	uc002zsl.1	-	4	875	c.766C>T	c.(766-768)CGG>TGG	p.R256W	KLHL22_uc011ahr.1_Missense_Mutation_p.R113W|KLHL22_uc002zsm.1_Missense_Mutation_p.R256W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	256					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			TCATGCAGCCGCTGCAGGACC	0.632													A	20819491	G	A	20819491	3	1	198	1	0	0	0	0	1	0	0	0	8377	1086	38	1	1154	1	KLHL22	22	20819491	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	718511	20819491	30485075	1347	110436											
KLHL22	84861	broad.mit.edu	37	chr22	20825700	20825700	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctgagctccagctcggaGgtgtatatgaaatgtaggat	14	6	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:20825700G>T	uc002zsl.1	-	3	439	c.330C>A	c.(328-330)ACC>ACA	p.T110T	KLHL22_uc011ahr.1_Intron|KLHL22_uc002zsm.1_Silent_p.T110T	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	110	BTB.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			CCAGCTCGGAGGTGTATATGA	0.522													T	20825700	G	T	20825700	2	4	198	1	0	0	0	0	0	0	0	1	8377	987	35	5		5	KLHL22	22	20825700	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	6209	20825700	30478866	1348	110437											
SERPIND1	3053	broad.mit.edu	37	chr22	21133832	21133832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagggggaggaggacgacGactatctggacctggagaag	18	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:21133832G>A	uc002ztb.1	+	2	299	c.232G>A	c.(232-234)GAC>AAC	p.D78N	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.D106N	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	78	2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).|Chemotactic activity.|1.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	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)	GGAGGACGACGACTATCTGGA	0.512													A	21133832	G	A	21133832	3	1	198	1	0	0	0	0	1	0	0	0	14110	1058	37	1	234	1	SERPIND1	22	21133832	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	308132	21133832	30170734	1349	110438											
PPM1F	9647	broad.mit.edu	37	chr22	22285570	22285570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaccacctgtccctgctGtaccaaaatgacctgggaat	7	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:22285570G>A	uc002zvp.1	-	6	955	c.841C>T	c.(841-843)CAG>TAG	p.Q281*	PPM1F_uc011aik.1_Nonsense_Mutation_p.Q177*|PPM1F_uc002zvq.2_Nonsense_Mutation_p.Q281*	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	281					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGTCCCTGCTGTACCAAAATG	0.602													A	22285570	G	A	22285570	4	1	198	1	0	0	0	0	0	1	0	0	12339	1386	48	4	535	4	PPM1F	22	22285570	Nonsense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1151738	22285570	29018996	1350	110439											
MYO18B	84700	broad.mit.edu	37	chr22	26423430	26423430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttgaagaagagcccggAgcccaaggaggatcccgctc	12	12	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:26423430A>G	uc003abz.1	+	43	7740	c.7490A>G	c.(7489-7491)GAG>GGG	p.E2497G	MYO18B_uc003aca.1_Missense_Mutation_p.E2378G|MYO18B_uc010guy.1_Missense_Mutation_p.E2379G|MYO18B_uc010guz.1_Missense_Mutation_p.E2377G|MYO18B_uc011aka.1_Missense_Mutation_p.E1651G|MYO18B_uc011akb.1_Missense_Mutation_p.E2010G|MYO18B_uc010gva.1_Missense_Mutation_p.E480G|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2497						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						AAGAGCCCGGAGCCCAAGGAG	0.537													G	26423430	A	G	26423430	3	3	198	1	0	0	0	0	1	0	0	0	10066	304	11	3	7656	3	MYO18B	22	26423430	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	4137860	26423430	24881136	1351	110440											
AP1B1	162	broad.mit.edu	37	chr22	29754808	29754808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgtggagcttggccacGcacacagctgctgtcttgcg	13	12	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:29754808G>A	uc003afj.2	-	5	616	c.432C>T	c.(430-432)TGC>TGT	p.C144C	AP1B1_uc003afi.2_Silent_p.C144C|AP1B1_uc003afk.2_Silent_p.C144C|AP1B1_uc003afl.2_Silent_p.C144C	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	144					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			ovary(1)|skin(1)	2						GCTTGGCCACGCACACAGCTG	0.582													A	29754808	G	A	29754808	2	1	198	1	0	0	0	0	0	0	0	1	731	1079	38	1		1	AP1B1	22	29754808	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3331378	29754808	21549758	1352	110441											
LIF	3976	broad.mit.edu	37	chr22	30639806	30639808	+	In_Frame_Del	DEL	AGG	AGG	-													ggcggcacagcacgttgctaAggaggcctcgcaggatgtcg							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:30639805_30639807AAGG>A	uc003agz.2	-	2	554_556	c.442_444CCTT>T	c.(442-444)ctt>T	p.L148del	LIF_uc011aks.1_In_Frame_Del_p.88_89P*>L|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	148					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCACGTTGCTAAGGAGGCCTCGC	0.616													-	30639808	AGG	-	30639806	7	5	198	1	0	1	0	1	0	0	0	0	8779	72	3	0	169	0	LIF	22	30639806	In_Frame_Del	DEL	AGG	TCGA-CG-5733-01A-11D-1600-08	884998	30639806	20664760	1353	110442											
PISD	23761	broad.mit.edu	37	chr22	32015751	32015751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcatggggacgccctctctAttggtgtgcgtcacgaagct	13	12	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:32015751A>G	uc003alm.3	-	8	1084	c.1077T>C	c.(1075-1077)AAT>AAC	p.N359N	PISD_uc003alk.2_Silent_p.N325N|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.N324N|PISD_uc003aln.3_Silent_p.N321N	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	359					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	CGCCCTCTCTATTGGTGTGCG	0.592													G	32015751	A	G	32015751	2	3	198	1	0	0	0	0	0	0	0	1	11946	446	16	3		3	PISD	22	32015751	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	1375945	32015751	19288815	1354	110443											
DEPDC5	9681	broad.mit.edu	37	chr22	32302472	32302472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagaagatgcatgccAgtgccccgtgaggccaggct	15	12	0	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:32302472A>G	uc003als.2	+	42	4850	c.4708A>G	c.(4708-4710)AGT>GGT	p.S1570G	DEPDC5_uc011als.1_Missense_Mutation_p.S1501G|DEPDC5_uc011alu.1_Missense_Mutation_p.S1601G|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1592G|DEPDC5_uc003alu.2_Missense_Mutation_p.S1019G|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.S868G|DEPDC5_uc011alx.1_Missense_Mutation_p.S418G|DEPDC5_uc010gwk.2_3'UTR|DEPDC5_uc011aly.1_Missense_Mutation_p.S418G	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1570					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GATGCATGCCAGTGCCCCGTG	0.612													G	32302472	A	G	32302472	3	3	198	1	0	0	0	0	1	0	0	0	4442	188	7	3	4958	3	DEPDC5	22	32302472	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	286721	32302472	19002094	1355	110444											
C22orf28	51493	broad.mit.edu	37	chr22	32794006	32794007	+	Frame_Shift_Ins	INS	-	-	T													cccttatggtcgatgcccatINSttttttagcagcatactcat							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:32794005_32794006A>AT	uc003amm.2	-	6	867_868	c.736_737T>AT	c.(736-738)atgfs	p.M246fs	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	246					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding	p.M246fs*11(2)		breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						GTCGATGCCCATTTTTTTAGCA	0.46													T	32794007	-	T	32794006	7	5	198	1	0	1	1	0	0	0	0	0	2140	1493	52	0	805	0	C22orf28	22	32794006	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	491534	32794006	18510560	1356	110445											
LARGE	9215	broad.mit.edu	37	chr22	33700243	33700243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatagagcccatacatggGcaggaagtcaatgtcagaca	10	10	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:33700243G>A	uc003and.3	-	13	2281	c.1702C>T	c.(1702-1704)CCC>TCC	p.P568S	LARGE_uc011amd.1_Missense_Mutation_p.P367S|LARGE_uc003ane.3_Missense_Mutation_p.P568S|LARGE_uc010gwp.2_Missense_Mutation_p.P516S|LARGE_uc011ame.1_Missense_Mutation_p.P500S|LARGE_uc011amf.1_Missense_Mutation_p.P568S	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	568	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CCATACATGGGCAGGAAGTCA	0.478													A	33700243	G	A	33700243	3	1	198	1	0	0	0	0	1	0	0	0	8627	1203	42	2	584	2	LARGE	22	33700243	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	906237	33700243	17604323	1357	110446											
APOL3	80833	broad.mit.edu	37	chr22	36537420	36537420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagtgcaaggaagatgCctgaagtggtcgcactcagg	13	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:36537420C>T	uc003aot.2	-	3	1075	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D	APOL3_uc003aoq.2_Missense_Mutation_p.G275D|APOL3_uc003aor.2_Missense_Mutation_p.G275D|APOL3_uc003aos.2_Missense_Mutation_p.G275D|APOL3_uc003aou.2_Missense_Mutation_p.G146D|APOL3_uc003aov.2_Missense_Mutation_p.G146D	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	346					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						AAGGAAGATGCCTGAAGTGGT	0.572													T	36537420	C	T	36537420	3	4	198	1	0	0	0	0	1	0	0	0	807	739	26	2	175	2	APOL3	22	36537420	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2837177	36537420	14767146	1358	110447											
TRIOBP	11078	broad.mit.edu	37	chr22	38165162	38165162	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctgcgccgctgccagCaggagggccaggagctgctg	16	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:38165162C>T	uc003atr.2	+	20	6974	c.6703C>T	c.(6703-6705)CAG>TAG	p.Q2235*	TRIOBP_uc003atu.2_Nonsense_Mutation_p.Q2063*|TRIOBP_uc003atw.2_Nonsense_Mutation_p.Q522*|TRIOBP_uc003atx.1_Nonsense_Mutation_p.Q118*|TRIOBP_uc010gxh.2_Nonsense_Mutation_p.Q118*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2235	Potential.				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)	1	Melanoma(58;0.0574)					CCGCTGCCAGCAGGAGGGCCA	0.701													T	38165162	C	T	38165162	4	4	198	1	0	0	0	0	0	1	0	0	16550	711	25	2	7075	2	TRIOBP	22	38165162	Nonsense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1627742	38165162	13139404	1359	110448											
CSNK1E	1454	broad.mit.edu	37	chr22	38698968	38698968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctccatgaccatcacGttgtagtcgccctcagctcc	8	16	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:38698968G>A	uc003avj.2	-	4	495	c.234C>T	c.(232-234)AAC>AAT	p.N78N	CSNK1E_uc003avk.2_Silent_p.N78N|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Silent_p.N78N|CSNK1E_uc003avo.2_Silent_p.N78N|CSNK1E_uc003avp.1_Silent_p.N78N|CSNK1E_uc003avq.1_Silent_p.N78N|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	78	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			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					TGACCATCACGTTGTAGTCGC	0.617													A	38698968	G	A	38698968	2	1	198	1	0	0	0	0	0	0	0	1	3953	1136	40	1		1	CSNK1E	22	38698968	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	533806	38698968	12605598	1360	110449											
DDX17	10521	broad.mit.edu	37	chr22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-													cgggtttaggacaaacatctCcccccctcactgtaatctcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383													-	38895455	C	-	38895455	7	5	198	1	0	1	0	1	0	0	0	0	4344	855	30	0	1751	0	DDX17	22	38895455	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	196487	38895455	12409111	1361	110450											
ENTHD1	150350	broad.mit.edu	37	chr22	40283547	40283547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagggatttatacacgtggCgccagttcttcccatggtca	10	10	2	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:40283547C>T	uc003ayg.2	-	2	457	c.206G>A	c.(205-207)CGC>CAC	p.R69H		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	69	ENTH.									ovary(2)|skin(1)	3	Melanoma(58;0.0749)					ATACACGTGGCGCCAGTTCTT	0.403													T	40283547	C	T	40283547	3	4	198	1	0	0	0	0	1	0	0	0	5137	768	27	1	1641	1	ENTHD1	22	40283547	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1388092	40283547	11021019	1362	110451											
FAM83F	113828	broad.mit.edu	37	chr22	40417800	40417800	+	Frame_Shift_Del	DEL	G	G	-													cggcatgggagaagcggcccGgggggaggccgcccccgcca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:40417799_40417799CG>C	uc003ayk.1	+	3	1379	c.1285_1285CG>C	c.(1285-1287)cggfs	p.R429fs		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	429										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGAAGCGGCCCGGGGGGAGGC	0.667													-	40417800	G	-	40417800	7	5	198	1	0	1	0	1	0	0	0	0	5638	1116	39	0	1300	0	FAM83F	22	40417800	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	134253	40417800	10886766	1363	110452											
MKL1	57591	broad.mit.edu	37	chr22	40814864	40814864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgtctttctcctgcagCatctggtccttgtcgcgccc	9	15	3	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:40814864C>T	uc003ayv.1	-	9	1785	c.1578G>A	c.(1576-1578)ATG>ATA	p.M526I	MKL1_uc003ayw.1_Missense_Mutation_p.M526I|MKL1_uc010gye.1_Missense_Mutation_p.M526I|MKL1_uc010gyf.1_Missense_Mutation_p.M476I	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	526	Potential.				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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TCTCCTGCAGCATCTGGTCCT	0.672			T	RBM15	acute megakaryocytic leukemia								T	40814864	C	T	40814864	3	4	198	1	0	0	0	0	1	0	0	0	9601	710	25	2	1233	2	MKL1	22	40814864	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	397064	40814864	10489702	1364	110453											
MKL1	57591	broad.mit.edu	37	chr22	40816542	40816542	+	Frame_Shift_Del	DEL	G	G	-													tagtggagaggctgcgtactGggggggtcccgctgcttccc					rs34028511		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:40816541_40816541TG>T	uc003ayv.1	-	7	1128	c.921_921CA>A	c.(919-921)ccafs	p.P307fs	MKL1_uc010gyf.1_Frame_Shift_Del_p.P257fs|MKL1_uc003ayw.1_Frame_Shift_Del_p.P307fs|MKL1_uc010gye.1_Frame_Shift_Del_p.P307fs	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	307					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	p.V308fs*9(1)		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						GGCTGCGTACTGGGGGGGTCC	0.657			T	RBM15	acute megakaryocytic leukemia								-	40816542	G	-	40816542	7	5	198	1	0	1	0	1	0	0	0	0	9601	1348	47	0	1895	0	MKL1	22	40816542	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	1678	40816542	10488024	1365	110454											
RRP7A	27341	broad.mit.edu	37	chr22	42908940	42908940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggtcggaatttgcgctgGgcccgcagcagctcgatcct	13	13	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:42908940G>A	uc003bcq.2	-	7	835	c.819C>T	c.(817-819)GCC>GCT	p.A273A	SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Silent_p.A296A	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A	273							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2						ATTTGCGCTGGGCCCGCAGCA	0.657													A	42908940	G	A	42908940	2	1	198	1	0	0	0	0	0	0	0	1	13689	1219	43	4		4	RRP7A	22	42908940	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2092398	42908940	8395626	1366	110455											
PACSIN2	11252	broad.mit.edu	37	chr22	43273001	43273001	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagactgggcggggttgctCgggacattaagggtgctatg	18	7	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:43273001C>T	uc010gzg.2	-	9	1266	c.1044G>A	c.(1042-1044)CCG>CCA	p.P348P	PACSIN2_uc003bdg.3_Silent_p.P348P|PACSIN2_uc003bde.3_Silent_p.P348P|PACSIN2_uc003bdf.3_Intron	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	348					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				CGGGGTTGCTCGGGACATTAA	0.602													T	43273001	C	T	43273001	2	4	198	1	0	0	0	0	0	0	0	1	11375	871	31	1		1	PACSIN2	22	43273001	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	364061	43273001	8031565	1367	110456											
EFCAB6	64800	broad.mit.edu	37	chr22	43926756	43926756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatagcttttgaacgtgCgccgcattggcctccagcag	10	13	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:43926756C>T	uc003bdy.1	-	31	4537	c.4322G>A	c.(4321-4323)CGC>CAC	p.R1441H	EFCAB6_uc003bdz.1_Missense_Mutation_p.R1289H|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1289H	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1441	Interaction with AR.|EF-hand 16.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTGAACGTGCGCCGCATTGG	0.562													T	43926756	C	T	43926756	3	4	198	1	0	0	0	0	1	0	0	0	4939	768	27	1	191	1	EFCAB6	22	43926756	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	653755	43926756	7377810	1368	110457											
FAM118A	55007	broad.mit.edu	37	chr22	45719228	45719228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctgcaccccggagacGtcgccgagttccggaggaaa	15	12	0	1	rs34197967		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:45719228G>A	uc003bfz.3	+	4	836	c.220G>A	c.(220-222)GTC>ATC	p.V74I	FAM118A_uc003bga.3_Missense_Mutation_p.V74I	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	74						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCCCGGAGACGTCGCCGAGTT	0.602													A	45719228	G	A	45719228	3	1	198	1	0	0	0	0	1	0	0	0	5411	1145	40	1	226	1	FAM118A	22	45719228	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1792472	45719228	5585338	1369	110458											
WNT7B	7477	broad.mit.edu	37	chr22	46318884	46318884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggtgtcacagccgtccGcgccgggcgacgtgcggttg	16	13	1	0	rs61735041		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:46318884G>A	uc003bgo.2	-	4	1276	c.902C>T	c.(901-903)GCG>GTG	p.A301V	WNT7B_uc010haa.2_Missense_Mutation_p.A305V	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	301					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGCCGTCCGCGCCGGGCGA	0.642													A	46318884	G	A	46318884	3	1	198	1	0	0	0	0	1	0	0	0	17392	1087	38	1	151	1	WNT7B	22	46318884	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	599656	46318884	4985682	1370	110459											
GTSE1	51512	broad.mit.edu	37	chr22	46725365	46725365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgataccccagaagcacaCgtggctgtaggatctgaaag	12	10	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:46725365C>T	uc011aqy.1	+	11	2249	c.2037C>T	c.(2035-2037)CAC>CAT	p.H679H	GTSE1_uc011aqz.1_Silent_p.H526H|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	660					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				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAGAAGCACACGTGGCTGTAG	0.522													T	46725365	C	T	46725365	2	4	198	1	0	0	0	0	0	0	0	1	6885	535	19	1		1	GTSE1	22	46725365	Silent	SNP	C	TCGA-CG-5733-01A-11D-1600-08	406481	46725365	4579201	1371	110460											
CELSR1	9620	broad.mit.edu	37	chr22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-													tcttaggcccagcgctgccgCcccccagaaaggtggaggcc							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:46931226_46931226GC>G	uc003bhw.1	-	0	1842	c.1842_1842GC>C	c.(1840-1842)ggcfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	614	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		CAGCGCTGCCGCCCCCCAGAA	0.657													-	46931227	C	-	46931227	7	5	198	1	0	1	0	1	0	0	0	0	3221	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	205862	46931227	4373339	1372	110461											
IL17REL	400935	broad.mit.edu	37	chr22	50437730	50437731	+	Frame_Shift_Ins	INS	-	-	G													gacacttgccgttttcaaagINSgggcagatctggatccgcac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:50437729_50437730A>AG	uc003bje.1	-	8	823_824	c.591_592T>CT	c.(589-594)ccctttfs	p.P197fs		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	197										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		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;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTTTTCAAAGGGGCAGATCT	0.658													G	50437731	-	G	50437730	7	5	198	1	0	1	1	0	0	0	0	0	7644	987	35	0	443	0	IL17REL	22	50437730	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	3506503	50437730	866836	1373	110462											
PANX2	56666	broad.mit.edu	37	chr22	50609382	50609382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttcaccaagaacttcGcaggtgaggccggcggccgg	15	12	2	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:50609382G>A	uc003bjn.3	+	1	223	c.223G>A	c.(223-225)GCA>ACA	p.A75T	PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Missense_Mutation_p.A75T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	75	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAAGAACTTCGCAGGTGAggc	0.582													A	50609382	G	A	50609382	3	1	198	1	0	0	0	0	1	0	0	0	11421	1087	38	1	225	1	PANX2	22	50609382	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	171652	50609382	695184	1374	110463											
ARSA	410	broad.mit.edu	37	chr22	51065135	51065135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagtccccaaatggcccGcggcctgaacgctctgcaaa	12	14	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:51065135G>A	uc003bnb.3	-	5	985	c.732C>T	c.(730-732)CGC>CGT	p.R244R	ARSA_uc003bna.3_Silent_p.R160R|ARSA_uc003bnc.3_Silent_p.R244R|ARSA_uc003bnd.3_Silent_p.R244R|ARSA_uc003bmz.3_Silent_p.R244R|ARSA_uc010hbf.2_3'UTR	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	244			R -> C (in MLD; juvenile-onset).|R -> H (in MLD; infantile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		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)	CAAATGGCCCGCGGCCTGAAC	0.617													A	51065135	G	A	51065135	2	1	198	1	0	0	0	0	0	0	0	1	987	1074	38	1		1	ARSA	22	51065135	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	455753	51065135	239431	1375	110464											
P2RY8	286530	broad.mit.edu	37	chrX	1585333	1585333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagagagaagaggttgCccgggatgctgaccgccgcc	14	14	0	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:1585333C>T	uc004cpz.2	-	2	367	c.119G>A	c.(118-120)GGC>GAC	p.G40D		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	40	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		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)				GAAGAGGTTGCCCGGGATGCT	0.677			T	CRLF2	B-ALL|Downs associated ALL								T	1585333	C	T	1585333	3	4	198	1	0	0	0	0	1	0	0	0	11355	739	26	2	964	2	P2RY8	23	1585333	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08		1585333	153685227	1376	110465											
MXRA5	25878	broad.mit.edu	37	chrX	3241263	3241263	+	Frame_Shift_Del	DEL	A	A	-													gaggggggagaaatagcaggAaaaggtggtgtgacttctag					rs138847281		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:3241263delA	uc004crg.3	-	5	2620	c.2463delT	c.(2461-2463)TTTfs	p.F821fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	821						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAATAGCAGGAAAAGGTGGTG	0.483													-	3241263	A	-	3241263	7	5	198	1	0	1	0	1	0	0	0	0	10003	243	9	0	6035	0	MXRA5	23	3241263	Frame_Shift_Del	DEL	A	TCGA-CG-5733-01A-11D-1600-08	1655930	3241263	152029297	1377	110466											
MXRA5	25878	broad.mit.edu	37	chrX	3241477	3241477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtctctggttctttttccGaatgcttccagagtttcagc	9	10	3	1	rs144303250	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:3241477G>A	uc004crg.3	-	5	2406	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	750						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCTTTTTCCGAATGCTTCCA	0.448													A	3241477	G	A	3241477	3	1	198	1	0	0	0	0	1	0	0	0	10003	1059	37	1	6249	1	MXRA5	23	3241477	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	214	3241477	152029083	1378	110467											
KLHL34	257240	broad.mit.edu	37	chrX	21675213	21675213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtacacgcgccgcagtaCgtcggcgggaaccaggccaa	14	14	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:21675213C>T	uc004czz.1	-	1	1236	c.694G>A	c.(694-696)GTA>ATA	p.V232I		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	232	BACK.									ovary(1)	1						CGCCGCAGTACGTCGGCGGGA	0.667													T	21675213	C	T	21675213	3	4	198	1	0	0	0	0	1	0	0	0	8387	536	19	1	1244	1	KLHL34	23	21675213	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	18433736	21675213	133595347	1379	110468											
TMEM47	83604	broad.mit.edu	37	chrX	34648479	34648479	+	Frame_Shift_Del	DEL	C	C	-													tcaggcaataaaggatggcaCccccaaacgaaaatatagtt							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:34648479delC	uc004ddh.2	-	3	756	c.497delG	c.(496-498)GGTfs	p.G166fs	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	166	Helical; (Potential).					integral to membrane				lung(1)	1						AAGGATGGCACCCCCAAACGA	0.413													-	34648479	C	-	34648479	7	5	198	1	0	1	0	1	0	0	0	0	16168	507	18	0	52	0	TMEM47	23	34648479	Frame_Shift_Del	DEL	C	TCGA-CG-5733-01A-11D-1600-08	12973266	34648479	120622081	1380	110469											
FAM47C	442444	broad.mit.edu	37	chrX	37026509	37026509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccagaggccgcaggaccGgcccagttccccgggcatgg	16	15	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:37026509G>A	uc004ddl.1	+	1	40	c.26G>A	c.(25-27)CGG>CAG	p.R9Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	9										ovary(3)	3						CCGCAGGACCGGCCCAGTTCC	0.657													A	37026509	G	A	37026509	3	1	198	1	0	0	0	0	1	0	0	0	5571	1116	39	1	28	1	FAM47C	23	37026509	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	2378030	37026509	118244051	1381	110470											
FAM47C	442444	broad.mit.edu	37	chrX	37027955	37027955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatctccgcccagagcctcCcgacactggagtgtcccatc	8	18	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:37027955C>A	uc004ddl.1	+	1	1486	c.1472C>A	c.(1471-1473)CCC>CAC	p.P491H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	491										ovary(3)	3						CCAGAGCCTCCCGACACTGGA	0.627													A	37027955	C	A	37027955	3	1	198	1	0	0	0	0	1	0	0	0	5571	623	22	5	1474	5	FAM47C	23	37027955	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1446	37027955	118242605	1382	110471											
CYBB	1536	broad.mit.edu	37	chrX	37663304	37663304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtatccatatccgcatcGttggggactggacagagggg	14	8	0	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:37663304G>A	uc004ddr.2	+	9	1133	c.1072G>A	c.(1072-1074)GTT>ATT	p.V358I	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.V326I|CYBB_uc011mkg.1_Missense_Mutation_p.V91I	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	358	Cytoplasmic (Potential).|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)|skin(1)	2						TATCCGCATCGTTGGGGACTG	0.468													A	37663304	G	A	37663304	3	1	198	1	0	0	0	0	1	0	0	0	4133	1145	40	1	1106	1	CYBB	23	37663304	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	635349	37663304	117607256	1383	110472											
SRPX	8406	broad.mit.edu	37	chrX	38019423	38019423	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgtaaccattctctgGggcattgagtttgccacagc	9	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:38019423G>T	uc004ddy.1	-	7	888	c.802C>A	c.(802-804)CCA>ACA	p.P268T	SRPX_uc004ddz.1_Missense_Mutation_p.P248T|SRPX_uc011mkh.1_Missense_Mutation_p.P209T|SRPX_uc011mki.1_Missense_Mutation_p.P268T	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	268	Sushi 3.				cell adhesion	cell surface|membrane					0						CCATTCTCTGGGGCATTGAGT	0.542													T	38019423	G	T	38019423	3	4	198	1	0	0	0	0	1	0	0	0	15163	1232	43	5	608	5	SRPX	23	38019423	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	356119	38019423	117251137	1384	110473											
HEPH	9843	broad.mit.edu	37	chrX	65392355	65392355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaggctgaagtgggggAtgtcattcttattcacctga	13	7	3	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:65392355A>G	uc011moz.1	+	3	395	c.335A>G	c.(334-336)GAT>GGT	p.D112G	HEPH_uc004dwn.2_Missense_Mutation_p.D112G|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.D112G|HEPH_uc011mpa.1_Missense_Mutation_p.D112G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	109	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GAAGTGGGGGATGTCATTCTT	0.493													G	65392355	A	G	65392355	3	3	198	1	0	0	0	0	1	0	0	0	7054	333	12	3	498	3	HEPH	23	65392355	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	27372932	65392355	89878205	1385	110474											
AR	367	broad.mit.edu	37	chrX	66765796	66765796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggggggattgcatgtacGccccacttttgggagttcca	13	10	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:66765796G>A	uc004dwu.1	+	1	1923	c.808G>A	c.(808-810)GCC>ACC	p.A270T	AR_uc011mpd.1_Missense_Mutation_p.A270T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A270T	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	268	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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	TTGCATGTACGCCCCACTTTT	0.597									Androgen_Insensitivity_Syndrome				A	66765796	G	A	66765796	3	1	198	1	0	0	0	0	1	0	0	0	836	1087	38	1	810	1	AR	23	66765796	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1373441	66765796	88504764	1386	110475											
FOXO4	4303	broad.mit.edu	37	chrX	70321277	70321277	+	Frame_Shift_Del	DEL	G	G	-													gctccgactcttctgttgctGggggggcttccttcctccag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:70321277delG	uc004dys.1	+	2	1550	c.1197delG	c.(1195-1197)CTGfs	p.L399fs	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Frame_Shift_Del_p.L344fs	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	399					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					TTCTGTTGCTGGGGGGGCTTC	0.632													-	70321277	G	-	70321277	7	5	198	1	0	1	0	1	0	0	0	0	6025	1335	47	0	1203	0	FOXO4	23	70321277	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	3555481	70321277	84949283	1387	110476											
P2RY10	27334	broad.mit.edu	37	chrX	78216864	78216864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcccgttgtccgaatcGcactgtatttccaccctttt	7	13	0	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:78216864G>A	uc004ede.2	+	4	1216	c.847G>A	c.(847-849)GCA>ACA	p.A283T	P2RY10_uc004edf.2_Missense_Mutation_p.A283T	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	283	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TGTCCGAATCGCACTGTATTT	0.413													A	78216864	G	A	78216864	3	1	198	1	0	0	0	0	1	0	0	0	11347	1087	38	1	849	1	P2RY10	23	78216864	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	7895587	78216864	77053696	1388	110477											
CYLC1	1538	broad.mit.edu	37	chrX	83126520	83126520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttgacatttcccaaacCactccagagaggtacaaatg	7	11	0	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:83126520C>T	uc004eei.1	+	3	140	c.119C>T	c.(118-120)CCA>CTA	p.P40L	CYLC1_uc004eeh.1_Missense_Mutation_p.P39L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	40					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TTTCCCAAACCACTCCAGAGA	0.303													T	83126520	C	T	83126520	3	4	198	1	0	0	0	0	1	0	0	0	4141	594	21	4	129	4	CYLC1	23	83126520	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	4909656	83126520	72144040	1389	110478											
POF1B	79983	broad.mit.edu	37	chrX	84559359	84559359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttatacctctgactgaCgctttatgagggaatccttc	7	11	1	3			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:84559359C>T	uc004eer.2	-	14	1702	c.1556G>A	c.(1555-1557)CGT>CAT	p.R519H	POF1B_uc004ees.2_Missense_Mutation_p.R519H	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	519							actin binding				0						CTCTGACTGACGCTTTATGAG	0.398													T	84559359	C	T	84559359	3	4	198	1	0	0	0	0	1	0	0	0	12182	536	19	1	229	1	POF1B	23	84559359	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	1432839	84559359	70711201	1390	110479											
DRP2	1821	broad.mit.edu	37	chrX	100505520	100505520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgggtgaagtggcagCctttgggggcagcaatgtgg	18	7	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:100505520C>T	uc004egz.2	+	15	2018	c.1649C>T	c.(1648-1650)GCC>GTC	p.A550V	DRP2_uc011mrh.1_Missense_Mutation_p.A472V	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	550					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GAAGTGGCAGCCTTTGGGGGC	0.483													T	100505520	C	T	100505520	3	4	198	1	0	0	0	0	1	0	0	0	4764	739	26	2	1699	2	DRP2	23	100505520	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	15946161	100505520	54765040	1391	110480											
GPRASP1	9737	broad.mit.edu	37	chrX	101912901	101912901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatatcaaaaaagaaacaGtgttctctgatgatgatttc	6	6	2	4			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:101912901G>A	uc004ejj.3	+	5	4861	c.4060G>A	c.(4060-4062)GTG>ATG	p.V1354M	GPRASP1_uc004eji.3_Missense_Mutation_p.V1354M|GPRASP1_uc010nod.2_Missense_Mutation_p.V1354M	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1354	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AAAAGAAACAGTGTTCTCTGA	0.328													A	101912901	G	A	101912901	3	1	198	1	0	0	0	0	1	0	0	0	6722	1029	36	4	4062	4	GPRASP1	23	101912901	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	1407381	101912901	53357659	1392	110481											
RNF128	79589	broad.mit.edu	37	chrX	105937331	105937332	+	Frame_Shift_Del	DEL	TG	TG	-													tcaatgagtgcctatgtgacTgtgacttattacaatgaaac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:105937331_105937332delTG	uc004emk.2	+	1	264_265	c.99_100delTG	c.(97-102)ACTGTGfs	p.T33fs		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment_49						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCTATGTGACTGTGACTTATTA	0.381													-	105937332	TG	-	105937331	7	5	198	1	0	1	0	1	0	0	0	0	13436	1567	55	0	101	0	RNF128	23	105937331	Frame_Shift_Del	DEL	TG	TCGA-CG-5733-01A-11D-1600-08	4024430	105937331	49333229	1393	110482											
IRS4	8471	broad.mit.edu	37	chrX	107978396	107978396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaagcgcctggtgaaaagCatctcgtcttccccgtcgcc	10	15	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:107978396C>T	uc004eoc.2	-	1	1212	c.1179G>A	c.(1177-1179)ATG>ATA	p.M393I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	393						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TGGTGAAAAGCATCTCGTCTT	0.642													T	107978396	C	T	107978396	3	4	198	1	0	0	0	0	1	0	0	0	7842	710	25	2	2598	2	IRS4	23	107978396	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	2041065	107978396	47292164	1394	110483											
RHOXF2B	727940	broad.mit.edu	37	chrX	119293217	119293217	+	Frame_Shift_Del	DEL	G	G	-													cgcgcccacagggcgccgtcGgggggctggagcctggcaac							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:119293217delG	uc004esl.3	+	2	566	c.376delG	c.(376-378)GGGfs	p.G126fs		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCGCCGTCGGGGGGCTGGA	0.662													-	119293217	G	-	119293217	7	5	198	1	0	1	0	1	0	0	0	0	13349	1116	39	0	1265	0	RHOXF2B	23	119293217	Frame_Shift_Del	DEL	G	TCGA-CG-5733-01A-11D-1600-08	11314821	119293217	35977343	1395	110484											
FRMD7	90167	broad.mit.edu	37	chrX	131212732	131212733	+	Frame_Shift_Ins	INS	-	-	A													gcttagagaactcctctctgINSaaaaaatgtctctgggatca							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:131212732_131212733insA	uc004ewn.2	-	12	1490_1491	c.1312_1313insT	c.(1312-1314)TCAfs	p.S438fs	FRMD7_uc011muy.1_Frame_Shift_Ins_p.S423fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	438					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ACTCCTCTCTGAAAAAATGTCT	0.436													A	131212733	-	A	131212732	7	5	198	1	0	1	1	0	0	0	0	0	6055	1294	45	0	835	0	FRMD7	23	131212732	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	11919515	131212732	24057828	1396	110485	521	2									
FRMD7	90167	broad.mit.edu	37	chrX	131212733	131212734	+	Frame_Shift_Ins	INS	-	-	A													cttagagaactcctctctgaINSaaaaatgtctctgggatcag							TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:131212732_131212733G>GA	uc004ewn.3	-	11	1490_1491	c.1312_1313C>TC	c.(1312-1314)tcafs	p.S438fs	FRMD7_uc022cdy.1_Frame_Shift_Ins_p.S318fs|FRMD7_uc011muy.2_Frame_Shift_Ins_p.S423fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	438					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACTCCTCTCTGAAAAAATGTCT	0.436													A	131212734	-	A	131212733	7	5	198	1	0	1	1	0	0	0	0	0	6055	246	9	0	836	0	FRMD7	23	131212733	Frame_Shift_Ins	INS	-	TCGA-CG-5733-01A-11D-1600-08	1	131212733	24057827	1397	110486	521	2									
VGLL1	51442	broad.mit.edu	37	chrX	135630855	135630855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcaacttgcatgtgcctGgtcccatggctgtgaatcag	11	11	1	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:135630855G>A	uc004ezy.2	+	3	492	c.322G>A	c.(322-324)GGT>AGT	p.G108S	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCATGTGCCTGGTCCCATGGC	0.582													A	135630855	G	A	135630855	3	1	198	1	0	0	0	0	1	0	0	0	17155	1348	47	4	328	4	VGLL1	23	135630855	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	4418122	135630855	19639705	1398	110487											
ATP11C	286410	broad.mit.edu	37	chrX	138856898	138856898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatgcagcaatttcttgcGatattctatcaataattcat	4	9	5	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:138856898G>A	uc004faz.2	-	19	2275	c.2176C>T	c.(2176-2178)CGC>TGC	p.R726C	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.R726C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	726	Cytoplasmic (Potential).				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			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					AATTTCTTGCGATATTCTATC	0.323													A	138856898	G	A	138856898	3	1	198	1	0	0	0	0	1	0	0	0	1121	1058	37	1	1333	1	ATP11C	23	138856898	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3226043	138856898	16413662	1399	110488											
MAGEA8	4107	broad.mit.edu	37	chrX	149013706	149013706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagggcagccgcgccccGgaggaggcaatctgggaagc	18	11	1	0	rs45518135		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:149013706G>A	uc004fdw.1	+	3	875	c.660G>A	c.(658-660)CCG>CCA	p.P220P		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	220	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGCGCCCCGGAGGAGGCAA	0.572													A	149013706	G	A	149013706	2	1	198	1	0	0	0	0	0	0	0	1	9171	1103	39	1		1	MAGEA8	23	149013706	Silent	SNP	G	TCGA-CG-5733-01A-11D-1600-08	10156808	149013706	6256854	1400	110489											
ZNF185	7739	broad.mit.edu	37	chrX	152134007	152134007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaaagggattctcttcGtgaaggagtacgtgaatgct	12	7	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:152134007G>A	uc010ntv.1	+	19	1769	c.1732G>A	c.(1732-1734)GTG>ATG	p.V578M	ZNF185_uc011myg.1_Missense_Mutation_p.V610M|ZNF185_uc011myh.1_Missense_Mutation_p.V581M|ZNF185_uc011myi.1_Missense_Mutation_p.V549M|ZNF185_uc011myj.1_Missense_Mutation_p.V519M|ZNF185_uc011myk.1_Missense_Mutation_p.V579M|ZNF185_uc004fgw.3_Missense_Mutation_p.V357M|ZNF185_uc004fgu.2_Missense_Mutation_p.V207M|ZNF185_uc004fgv.2_Missense_Mutation_p.V275M|ZNF185_uc004fgx.2_Missense_Mutation_p.V216M	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	578						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GATTCTCTTCGTGAAGGAGTA	0.522													A	152134007	G	A	152134007	3	1	198	1	0	0	0	0	1	0	0	0	17749	1145	40	1	2050	1	ZNF185	23	152134007	Missense_Mutation	SNP	G	TCGA-CG-5733-01A-11D-1600-08	3120301	152134007	3136553	1401	110490											
MAGEA1	4100	broad.mit.edu	37	chrX	152482678	152482678	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatatttgaggagcagaaaAccaaccaaatcagccacctt	7	11	1	2			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:152482678A>C	uc004fhf.2	-	3	553	c.333T>G	c.(331-333)GGT>GGG	p.G111G		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	111	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCAGAAAACCAACCAAAT	0.493													C	152482678	A	C	152482678	2	2	198	1	0	0	0	0	0	0	0	1	9163	30	2	5		5	MAGEA1	23	152482678	Silent	SNP	A	TCGA-CG-5733-01A-11D-1600-08	348671	152482678	2787882	1402	110491											
PDZD4	57595	broad.mit.edu	37	chrX	153069625	153069625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggttcaagttggagttgCcggccatggcccgccgcagg	15	13	1	0			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:153069625C>T	uc004fiz.1	-	8	1743	c.1493G>A	c.(1492-1494)GGC>GAC	p.G498D	PDZD4_uc004fiy.1_Missense_Mutation_p.G423D|PDZD4_uc004fix.2_Missense_Mutation_p.G402D|PDZD4_uc004fja.1_Missense_Mutation_p.G504D|PDZD4_uc011mze.1_Missense_Mutation_p.G389D	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	498						cell cortex				breast(1)	1	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)					GTTGGAGTTGCCGGCCATGGC	0.716													T	153069625	C	T	153069625	3	4	198	1	0	0	0	0	1	0	0	0	11703	739	26	2	820	2	PDZD4	23	153069625	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	586947	153069625	2200935	1403	110492											
OPN1LW	5956	broad.mit.edu	37	chrX	153421950	153421950	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggctgccctgccggcctActttgccaaaagtgccacta	10	14	0	0	rs145631912	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:153421950A>T	uc004fjz.3	+	5	959	c.926A>T	c.(925-927)TAC>TTC	p.Y309F		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	309	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	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)					CTGCCGGCCTACTTTGCCAAA	0.537													T	153421950	A	T	153421950	3	4	198	1	0	0	0	0	1	0	0	0	10877	391	14	5	944	5	OPN1LW	23	153421950	Missense_Mutation	SNP	A	TCGA-CG-5733-01A-11D-1600-08	352325	153421950	1848610	1404	110493											
GAB3	139716	broad.mit.edu	37	chrX	153944504	153944504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgctgaggtctatcaccCggatgggcttgctggagtgc	14	11	2	1			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:153944504C>T	uc004fmj.1	-	2	221	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	GAB3_uc004fmk.1_Missense_Mutation_p.R58Q|GAB3_uc010nve.1_Missense_Mutation_p.R58Q|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	58	PH.									ovary(1)	1	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)					GTCTATCACCCGGATGGGCTT	0.552													T	153944504	C	T	153944504	3	4	198	1	0	0	0	0	1	0	0	0	6150	652	23	1	1626	1	GAB3	23	153944504	Missense_Mutation	SNP	C	TCGA-CG-5733-01A-11D-1600-08	522554	153944504	1326056	1405	110494											
PIK3CD	5293	broad.mit.edu	37	chr1	9770626	9770626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaacttccctgtgtcccGcaatgccaacctcagcacca	6	18	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:9770626G>A	uc001aqb.3	+	3	321	c.113G>A	c.(112-114)CGC>CAC	p.R38H	PIK3CD_uc001aqa.2_Missense_Mutation_p.R38H|PIK3CD_uc010oaf.1_Missense_Mutation_p.R38H|PIK3CD_uc001aqe.3_Missense_Mutation_p.R38H	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	38					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			lung(4)|skin(2)|central_nervous_system(1)	7	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)		CCTGTGTCCCGCAATGCCAAC	0.468													A	9770626	G	A	9770626	3	1	199	1	0	0	0	0	1	0	0	0	11915	1087	38	1	115	1	PIK3CD	1	9770626	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08		9770626	239479995	1	110495											
PRAMEF6	440561	broad.mit.edu	37	chr1	13001329	13001329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcacccacgggccatagcTtcagaccaaaccatccagaa	7	15	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:13001329T>G	uc001auq.2	-	3	440	c.354A>C	c.(352-354)GAA>GAC	p.E118D	PRAMEF5_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	118											0	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)		GGGCCATAGCTTCAGACCAAA	0.493													G	13001329	T	G	13001329	3	3	199	1	0	0	0	0	1	0	0	0	12438	1606	56	5	1084	5	PRAMEF6	1	13001329	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	3230703	13001329	236249292	2	110496											
HP1BP3	50809	broad.mit.edu	37	chr1	21076258	21076258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgattctctaggacatActtcttcagagcagtggtag	12	7	3	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:21076258A>G	uc001bdw.1	-	10	1239	c.1099T>C	c.(1099-1101)TAT>CAT	p.Y367H	HP1BP3_uc001bdv.1_Missense_Mutation_p.Y329H|HP1BP3_uc010odh.1_Missense_Mutation_p.Y329H|HP1BP3_uc001bdy.1_Missense_Mutation_p.Y367H|HP1BP3_uc010odf.1_Missense_Mutation_p.Y26H|HP1BP3_uc010odg.1_Missense_Mutation_p.Y215H	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	367	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		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)		TCTAGGACATACTTCTTCAGA	0.428													G	21076258	A	G	21076258	3	3	199	1	0	0	0	0	1	0	0	0	7328	391	14	3	578	3	HP1BP3	1	21076258	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	8074929	21076258	228174363	3	110497											
ZDHHC18	84243	broad.mit.edu	37	chr1	27159097	27159097	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgccctggagaaacagatCggtgaggtttctactcccag	12	12	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:27159097C>T	uc001bnb.2	+	2	590	c.495C>T	c.(493-495)ATC>ATT	p.I165I	ZDHHC18_uc010ofh.1_Silent_p.I30I	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	165						integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|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)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		AGAAACAGATCGGTGAGGTTT	0.532													T	27159097	C	T	27159097	2	4	199	1	0	0	0	0	0	0	0	1	17605	898	31	1		1	ZDHHC18	1	27159097	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	6082839	27159097	222091524	4	110498											
GJA8	2703	broad.mit.edu	37	chr1	147381081	147381081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacaagaagtggagggCgaggggccgcctgcagagga	21	8	0	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:147381081C>T	uc001epu.1	+	2	1062	c.999C>T	c.(997-999)GGC>GGT	p.G333G		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	333	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					AAGTGGAGGGCGAGGGGCCGC	0.647													T	147381081	C	T	147381081	2	4	199	1	0	0	0	0	0	0	0	1	6405	755	27	1		1	GJA8	1	147381081	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	120221984	147381081	101869540	5	110499											
FLG	2312	broad.mit.edu	37	chr1	152285654	152285654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcctcatttcgtgtttGtctgcttgcacttctggatc	8	10	3	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:152285654G>T	uc001ezu.1	-	3	1744	c.1708C>A	c.(1708-1710)CAA>AAA	p.Q570K	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	570	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCGTGTTTGTCTGCTTGCA	0.537									Ichthyosis				T	152285654	G	T	152285654	3	4	199	1	0	0	0	0	1	0	0	0	5922	1386	48	5	10481	5	FLG	1	152285654	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	4904573	152285654	96964967	6	110500											
C1orf129	80133	broad.mit.edu	37	chr1	170967420	170967420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatattcctcactgaagtgaGttttgtagactgtgaacagc	9	7	1	4			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:170967420G>T	uc001ghg.2	+	15	1731	c.1601G>T	c.(1600-1602)AGT>ATT	p.S534I	C1orf129_uc009wvy.2_Missense_Mutation_p.S341I|C1orf129_uc010plz.1_Intron	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	534							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGAAGTGAGTTTTGTAGAC	0.398													T	170967420	G	T	170967420	3	4	199	1	0	0	0	0	1	0	0	0	1996	1029	36	5	1655	5	C1orf129	1	170967420	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	18681766	170967420	78283201	7	110501											
PAPPA2	60676	broad.mit.edu	37	chr1	176526217	176526217	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctaccgagaagcagagacCtttaactcccaagtaggact	8	12	0	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:176526217C>A	uc001gkz.2	+	2	1923	c.759C>A	c.(757-759)ACC>ACA	p.T253T	PAPPA2_uc001gky.1_Silent_p.T253T|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	253					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						AAGCAGAGACCTTTAACTCCC	0.557													A	176526217	C	A	176526217	2	1	199	1	0	0	0	0	0	0	0	1	11433	668	24	5		5	PAPPA2	1	176526217	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	5558797	176526217	72724404	8	110502											
RGS18	64407	broad.mit.edu	37	chr1	192127860	192127860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacatggttcaggaaaagaAgaaacaagcaaagaagccaa	9	6	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:192127860A>C	uc001gsg.2	+	1	269	c.93A>C	c.(91-93)GAA>GAC	p.E31D		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	31					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						CAGGAAAAGAAGAAACAAGCA	0.294													C	192127860	A	C	192127860	3	2	199	1	0	0	0	0	1	0	0	0	13300	69	3	5	95	5	RGS18	1	192127860	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	15601643	192127860	57122761	9	110503											
ARV1	64801	broad.mit.edu	37	chr1	231131557	231131557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgtgggtagaacggcCcatgacggcaaaaaaaaagc	11	10	0	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:231131557C>T	uc009xfl.1	+	4	529	c.500C>T	c.(499-501)CCC>CTC	p.P167L	ARV1_uc001huh.2_Missense_Mutation_p.P167L	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	ARV1 homolog	167					sphingolipid metabolic process	integral to membrane				breast(2)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		GTAGAACGGCCCATGACGGCA	0.373													T	231131557	C	T	231131557	3	4	199	1	0	0	0	0	1	0	0	0	1002	623	22	4	514	4	ARV1	1	231131557	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	39003697	231131557	18119064	10	110504											
FMN2	56776	broad.mit.edu	37	chr1	240286542	240286542	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagaagaagcagagaAgttttgctcccggatcattg	11	10	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr1:240286542A>C	uc010pyd.1	+	2	1904	c.1679A>C	c.(1678-1680)AAG>ACG	p.K560T	FMN2_uc010pye.1_Missense_Mutation_p.K560T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	560					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAGCAGAGAAGTTTTGCTCC	0.512													C	240286542	A	C	240286542	3	2	199	1	0	0	0	0	1	0	0	0	5950	72	3	5	1685	5	FMN2	1	240286542	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	9154985	240286542	8964079	11	110505											
PRKCE	5581	broad.mit.edu	37	chr2	46203682	46203682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagttcatggccacctAtcttcggcagcccacctact	6	17	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr2:46203682A>G	uc002rut.2	+	3	724	c.527A>G	c.(526-528)TAT>TGT	p.Y176C		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	176	Phorbol-ester/DAG-type 1.				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			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			ATGGCCACCTATCTTCGGCAG	0.562													G	46203682	A	G	46203682	3	3	199	1	0	0	0	0	1	0	0	0	12511	449	16	3	537	3	PRKCE	2	46203682	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08		46203682	196995691	12	110506											
DNAH7	56171	broad.mit.edu	37	chr2	196765097	196765097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctgctctgaacacaagCgatacgtagccacaattttt	7	11	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr2:196765097C>T	uc002utj.3	-	28	4558	c.4457G>A	c.(4456-4458)CGC>CAC	p.R1486H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1486	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGAACACAAGCGATACGTAGC	0.458													T	196765097	C	T	196765097	3	4	199	1	0	0	0	0	1	0	0	0	4606	768	27	1	7769	1	DNAH7	2	196765097	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	150561415	196765097	46434276	13	110507											
BMPR2	659	broad.mit.edu	37	chr2	203378463	203378463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacctcattcatttaaccGagatgagacaataatcattg	5	10	3	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr2:203378463G>A	uc002uzf.3	+	4	1588	c.440G>A	c.(439-441)CGA>CAA	p.R147Q	BMPR2_uc010ftr.2_Missense_Mutation_p.R147Q	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	147	Extracellular (Potential).				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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TCATTTAACCGAGATGAGACA	0.259													A	203378463	G	A	203378463	3	1	199	1	0	0	0	0	1	0	0	0	1471	1058	37	1	454	1	BMPR2	2	203378463	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	6613366	203378463	39820910	14	110508											
ZNF142	7701	broad.mit.edu	37	chr2	219508125	219508125	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgtgagaggtaatagaggaGagccgggaacaaaggaatgg	17	4	0	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr2:219508125G>C	uc002vin.2	-	8	3550	c.3114C>G	c.(3112-3114)CTC>CTG	p.L1038L	ZNF142_uc002vil.2_Silent_p.L999L|ZNF142_uc010fvt.2_Silent_p.L875L|ZNF142_uc002vim.2_Silent_p.L875L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		TAATAGAGGAGAGCCGGGAAC	0.607													C	219508125	G	C	219508125	2	2	199	1	0	0	0	0	0	0	0	1	17728	929	33	5		5	ZNF142	2	219508125	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08	16129662	219508125	23691248	15	110509											
TRIP12	9320	broad.mit.edu	37	chr2	230670450	230670450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaatgtacttactagtGttactattggctaacgggtt	9	7	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr2:230670450G>A	uc002vpw.1	-	17	2530	c.2421C>T	c.(2419-2421)AAC>AAT	p.N807N	TRIP12_uc002vpx.1_Silent_p.N855N|TRIP12_uc002vpy.1_Silent_p.N537N|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	807	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		ACTTACTAGTGTTACTATTGG	0.318													A	230670450	G	A	230670450	2	1	199	1	0	0	0	0	0	0	0	1	16553	1368	48	4		4	TRIP12	2	230670450	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08	11162325	230670450	12528923	16	110510											
PER2	8864	broad.mit.edu	37	chr2	239169471	239169471	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatggaaggagacgtacggCtctcctccggcgtgagtcct	14	11	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr2:239169471C>A	uc002vyc.2	-	13	1777	c.1540G>T	c.(1540-1542)GCC>TCC	p.A514S	PER2_uc010znv.1_Missense_Mutation_p.A514S	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	514					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		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)		AGACGTACGGCTCTCCTCCGG	0.567													A	239169471	C	A	239169471	3	1	199	1	0	0	0	0	1	0	0	0	11730	797	28	5	2271	5	PER2	2	239169471	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	8499021	239169471	4029902	17	110511											
CNTN4	152330	broad.mit.edu	37	chr3	3085346	3085346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatcctgaattgggatcaAgtgaaggccctggataatga	11	6	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr3:3085346A>C	uc003bpc.2	+	22	2990	c.2769A>C	c.(2767-2769)CAA>CAC	p.Q923H	CNTN4_uc003bpe.2_Missense_Mutation_p.Q595H|CNTN4_uc003bpf.2_Missense_Mutation_p.Q594H|CNTN4_uc003bpg.2_Missense_Mutation_p.Q179H	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	923	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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGGGATCAAGTGAAGGCCC	0.413													C	3085346	A	C	3085346	3	2	199	1	0	0	0	0	1	0	0	0	3643	69	3	5	2847	5	CNTN4	3	3085346	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08		3085346	194937084	18	110512											
TADA3	10474	broad.mit.edu	37	chr3	9832967	9832967	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcggcctcaagcacacGcaggcgccggctggcagaag	15	13	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr3:9832967G>C	uc003bsx.1	-	2	732	c.184C>G	c.(184-186)CGT>GGT	p.R62G	TADA3_uc010hcn.1_Missense_Mutation_p.R62G|TADA3_uc003bsy.2_Missense_Mutation_p.R62G|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	62	Potential.				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						TCAAGCACACGCAGGCGCCGG	0.602													C	9832967	G	C	9832967	3	2	199	1	0	0	0	0	1	0	0	0	15509	1087	38	5	1150	5	TADA3	3	9832967	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	6747621	9832967	188189463	19	110513											
ATP2B2	491	broad.mit.edu	37	chr3	10387238	10387238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtctgaggcctccttggCcacgtcagtgcctgcgatgc	13	13	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr3:10387238C>T	uc003bvt.2	-	18	2972	c.2533G>A	c.(2533-2535)GCC>ACC	p.A845T	ATP2B2_uc003bvv.2_Missense_Mutation_p.A800T|ATP2B2_uc003bvw.2_Missense_Mutation_p.A800T|ATP2B2_uc010hdo.2_Missense_Mutation_p.A550T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	845	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCCTCCTTGGCCACGTCAGTG	0.592													T	10387238	C	T	10387238	3	4	199	1	0	0	0	0	1	0	0	0	1140	739	26	2	1222	2	ATP2B2	3	10387238	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	554271	10387238	187635192	20	110514											
KIF15	56992	broad.mit.edu	37	chr3	44879787	44879787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatatgctctgtgaggaCctggctcatgccactgagca	13	10	2	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr3:44879787C>T	uc003cnx.3	+	27	3341	c.3192C>T	c.(3190-3192)GAC>GAT	p.D1064D	KIF15_uc010hiq.2_Silent_p.D967D|KIF15_uc010hir.2_Silent_p.D112D	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1064	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCTGTGAGGACCTGGCTCATG	0.453													T	44879787	C	T	44879787	2	4	199	1	0	0	0	0	0	0	0	1	8277	506	18	4		4	KIF15	3	44879787	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	34492549	44879787	153142643	21	110515											
NIT2	56954	broad.mit.edu	37	chr3	100058731	100058731	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcctggtgaatccacaCagaagctttctgaagtagca	8	9	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr3:100058731C>T	uc003dtv.2	+	3	273	c.199C>T	c.(199-201)CAG>TAG	p.Q67*	NIT2_uc011bha.1_Nonsense_Mutation_p.Q67*	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	67	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						TGAATCCACACAGAAGCTTTC	0.353													T	100058731	C	T	100058731	4	4	199	1	0	0	0	0	0	1	0	0	10434	479	17	4	209	4	NIT2	3	100058731	Nonsense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	55178944	100058731	97963699	22	110516											
HCLS1	3059	broad.mit.edu	37	chr3	121350700	121350700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagctctagtcactccAgaagcttgacataatttgca	8	10	2	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr3:121350700A>G	uc003eeh.3	-	14	1579	c.1454T>C	c.(1453-1455)CTG>CCG	p.L485P	HCLS1_uc011bjj.1_Missense_Mutation_p.L448P	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	485	SH3.				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				0				GBM - Glioblastoma multiforme(114;0.0912)		TAGTCACTCCAGAAGCTTGAC	0.527													G	121350700	A	G	121350700	3	3	199	1	0	0	0	0	1	0	0	0	6995	188	7	3	10	3	HCLS1	3	121350700	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	21291969	121350700	76671730	23	110517											
DBR1	51163	broad.mit.edu	37	chr3	137892448	137892448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcgtgagaactggagccTttttctctccagagtaatac	10	9	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr3:137892448T>C	uc003erv.2	-	2	354	c.218A>G	c.(217-219)AAG>AGG	p.K73R	DBR1_uc003eru.2_Missense_Mutation_p.K22R	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	73						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						AACTGGAGCCTTTTTCTCTCC	0.398													C	137892448	T	C	137892448	3	2	199	1	0	0	0	0	1	0	0	0	4257	1609	56	3	1444	3	DBR1	3	137892448	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	16541748	137892448	60129982	24	110518											
SLIT2	9353	broad.mit.edu	37	chr4	20533667	20533667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatctttaagaaacttccTcaattacgtaaaatgtaagt	6	6	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr4:20533667T>C	uc003gpr.1	+	17	1878	c.1674T>C	c.(1672-1674)CCT>CCC	p.P558P	SLIT2_uc003gps.1_Silent_p.P550P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	558					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			central_nervous_system(4)|skin(4)|ovary(3)	11						AGAAACTTCCTCAATTACGTA	0.294													C	20533667	T	C	20533667	2	2	199	1	0	0	0	0	0	0	0	1	14740	1538	54	3		3	SLIT2	4	20533667	Silent	SNP	T	TCGA-CG-5734-01A-11D-1600-08		20533667	170620609	25	110519											
ANKRD17	26057	broad.mit.edu	37	chr4	73957913	73957913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggaatttgctgaggagCttttcaaacgattctttgga	10	5	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr4:73957913C>T	uc003hgp.2	-	29	5549	c.5432G>A	c.(5431-5433)AGC>AAC	p.S1811N	ANKRD17_uc003hgo.2_Missense_Mutation_p.S1698N|ANKRD17_uc003hgq.2_Missense_Mutation_p.S1560N|ANKRD17_uc003hgr.2_Missense_Mutation_p.S1810N	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1811					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			TGCTGAGGAGCTTTTCAAACG	0.388													T	73957913	C	T	73957913	3	4	199	1	0	0	0	0	1	0	0	0	646	797	28	2	2403	2	ANKRD17	4	73957913	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	53424246	73957913	117196363	26	110520											
BDP1	55814	broad.mit.edu	37	chr5	70763277	70763277	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaactacatactccagcttTaggaaaaactattactctaa	3	10	1	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:70763277T>A	uc003kbp.1	+	6	1145	c.882T>A	c.(880-882)TTT>TTA	p.F294L	BDP1_uc003kbn.1_Missense_Mutation_p.F294L|BDP1_uc003kbo.2_Missense_Mutation_p.F294L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	294	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		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)		ACTCCAGCTTTAGGAAAAACT	0.323													A	70763277	T	A	70763277	3	1	199	1	0	0	0	0	1	0	0	0	1395	1751	61	5	904	5	BDP1	5	70763277	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08		70763277	110151983	27	110521											
IL3	3562	broad.mit.edu	37	chr5	131398068	131398068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaagagtttacagaacGcatcagcaattgagagcatt	9	8	2	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:131398068G>A	uc003kwe.1	+	3	321	c.268G>A	c.(268-270)GCA>ACA	p.A90T		NM_000588	NP_000579	P08700	IL3_HUMAN	interleukin 3 precursor	90					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			ovary(2)|central_nervous_system(1)	3		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TTTACAGAACGCATCAGCAAT	0.512													A	131398068	G	A	131398068	3	1	199	1	0	0	0	0	1	0	0	0	7689	1087	38	1	278	1	IL3	5	131398068	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	60634791	131398068	49517192	28	110522											
PCDHA4	56144	broad.mit.edu	37	chr5	140188293	140188293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcgcgctgtcgagctaCgtttcggtgcatgcggagag	17	10	0	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:140188293C>T	uc003lhi.2	+	1	1622	c.1521C>T	c.(1519-1521)TAC>TAT	p.Y507Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.Y507Y|PCDHA4_uc011daa.1_Silent_p.Y507Y	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	507	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGAGCTACGTTTCGGTGC	0.662													T	140188293	C	T	140188293	2	4	199	1	0	0	0	0	0	0	0	1	11526	547	19	1		1	PCDHA4	5	140188293	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	8790225	140188293	40726967	29	110523											
PCDHB6	56130	broad.mit.edu	37	chr5	140531925	140531925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggcgttggcctcggtgtCgtcgctcttcctcttttcgg	14	12	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:140531925C>T	uc003lir.2	+	1	2087	c.2087C>T	c.(2086-2088)TCG>TTG	p.S696L	PCDHB6_uc011dah.1_Missense_Mutation_p.S560L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	696	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCGGTGTCGTCGCTCTTC	0.697													T	140531925	C	T	140531925	3	4	199	1	0	0	0	0	1	0	0	0	11546	893	31	1	2089	1	PCDHB6	5	140531925	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	343632	140531925	40383335	30	110524											
PCDH1	5097	broad.mit.edu	37	chr5	141243883	141243883	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttgctctcgatcaaagctCaggctggataggatggtgcc	13	9	3	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:141243883C>T	uc003llq.2	-	3	2130	c.2013G>A	c.(2011-2013)CTG>CTA	p.L671L	PCDH1_uc003llp.2_Silent_p.L671L|PCDH1_uc011dbf.1_Silent_p.L649L	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	671	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		GATCAAAGCTCAGGCTGGATA	0.547													T	141243883	C	T	141243883	2	4	199	1	0	0	0	0	0	0	0	1	11506	813	29	4		4	PCDH1	5	141243883	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	711958	141243883	39671377	31	110525											
PCDH1	5097	broad.mit.edu	37	chr5	141244796	141244796	+	Frame_Shift_Del	DEL	T	T	-													ccacctgggcacgggcactcTtggggttggtgcctcggtcc							TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:141244795_141244795CT>C	uc003llp.3	-	2	1218	c.1101_1101AG>G	c.(1099-1101)aagfs	p.K367fs	PCDH1_uc011dbf.2_Frame_Shift_Del_p.K345fs|PCDH1_uc003llq.3_Frame_Shift_Del_p.K367fs	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	367	Cadherin 3.				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)		CACGGGCACTCTTGGGGTTGG	0.577													-	141244796	T	-	141244796	7	5	199	1	0	1	0	1	0	0	0	0	11506	1609	56	0	2709	0	PCDH1	5	141244796	Frame_Shift_Del	DEL	T	TCGA-CG-5734-01A-11D-1600-08	913	141244796	39670464	32	110526											
C1QTNF2	114898	broad.mit.edu	37	chr5	159776736	159776736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcccgcccaatggccccGgctttgccctttggtcctgg	11	18	0	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:159776736G>A	uc003lyd.2	-	3	436	c.432C>T	c.(430-432)GCC>GCT	p.A144A		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	99	Collagen-like.					collagen				skin(1)	1	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)			CAATGGCCCCGGCTTTGCCCT	0.657													A	159776736	G	A	159776736	2	1	199	1	0	0	0	0	0	0	0	1	1963	1103	39	1		1	C1QTNF2	5	159776736	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08	18531940	159776736	21138524	33	110527											
UNC5A	90249	broad.mit.edu	37	chr5	176304597	176304597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgtggaccccctggcGtcctgctcacccggccagtc	11	17	1	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr5:176304597G>A	uc003mey.2	+	10	1720	c.1528G>A	c.(1528-1530)GTC>ATC	p.V510I		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	510	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	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)			ACCCCCTGGCGTCCTGCTCAC	0.627													A	176304597	G	A	176304597	3	1	199	1	0	0	0	0	1	0	0	0	16988	1145	40	1	1566	1	UNC5A	5	176304597	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	16527861	176304597	4610663	34	110528											
MBOAT1	154141	broad.mit.edu	37	chr6	20124775	20124775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaaaggtcttcgttagCgtcaaaaacaaaaggagaga	11	6	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr6:20124775C>T	uc003ncx.1	-	8	976	c.771G>A	c.(769-771)ACG>ACA	p.T257T	MBOAT1_uc011dji.1_Silent_p.T108T	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	257	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	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)			TCTTCGTTAGCGTCAAAAACA	0.478													T	20124775	C	T	20124775	2	4	199	1	0	0	0	0	0	0	0	1	9356	755	27	1		1	MBOAT1	6	20124775	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08		20124775	150990292	35	110529											
BTN2A2	10385	broad.mit.edu	37	chr6	26388369	26388369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctacggtgaggttgtgCccgccctgaaggaggtttcc	13	13	0	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr6:26388369C>T	uc003nhq.2	+	4	657	c.571C>T	c.(571-573)CCC>TCC	p.P191S	BTN2A2_uc011dkf.1_Missense_Mutation_p.P75S|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.P75S|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.P191S|BTN2A2_uc003nht.2_Missense_Mutation_p.P191S|BTN2A2_uc011dki.1_5'Flank	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	191	Extracellular (Potential).|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					0						TGAGGTTGTGCCCGCCCTGAA	0.577													T	26388369	C	T	26388369	3	4	199	1	0	0	0	0	1	0	0	0	1561	739	26	2	581	2	BTN2A2	6	26388369	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	6263594	26388369	144726698	36	110530											
OR12D3	81797	broad.mit.edu	37	chr6	29342887	29342887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaaggtttcccagaaAaaaatacataggggagtgga	11	5	0	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr6:29342887A>C	uc003nme.2	-	1	182	c.178T>G	c.(178-180)TTT>GTT	p.F60V		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3						TTTCCCAGAAAAAAATACATA	0.398													C	29342887	A	C	29342887	3	2	199	1	0	0	0	0	1	0	0	0	10932	14	1	5	776	5	OR12D3	6	29342887	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	2954518	29342887	141772180	37	110531											
BAT2	7916	broad.mit.edu	37	chr6	31604895	31604895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggacctggatcatcacGgactcccccaactggaaggt	13	12	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr6:31604895G>A	uc003nvb.3	+	29	6473	c.6224G>A	c.(6223-6225)CGG>CAG	p.R2075Q	BAT2_uc003nvc.3_Missense_Mutation_p.R2075Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	2075	3-3.|3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding				0						GGATCATCACGGACTCCCCCA	0.502													A	31604895	G	A	31604895	3	1	199	1	0	0	0	0	1	0	0	0	1319	1116	39	1	6334	1	BAT2	6	31604895	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	2262008	31604895	139510172	38	110532											
CNR1	1268	broad.mit.edu	37	chr6	88854343	88854343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggccaggggcctgtgaatGgatatgtacctgtcgatggc	15	8	0	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr6:88854343G>A	uc011dzq.1	-	2	4214	c.651C>T	c.(649-651)TCC>TCT	p.S217S	CNR1_uc010kbz.2_Silent_p.S217S|CNR1_uc011dzr.1_Silent_p.S217S|CNR1_uc011dzs.1_Silent_p.S217S|CNR1_uc003pmq.3_Silent_p.S217S|CNR1_uc011dzt.1_Silent_p.S217S|CNR1_uc010kca.2_Silent_p.S184S	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	217	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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)	GCCTGTGAATGGATATGTACC	0.577													A	88854343	G	A	88854343	2	1	199	1	0	0	0	0	0	0	0	1	3631	1335	47	4		4	CNR1	6	88854343	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08	57249448	88854343	82260724	39	110533											
MLLT4	4301	broad.mit.edu	37	chr6	168299060	168299060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgtcccatgtatttaAgtttgtggaccccagtcagg	13	9	1	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr6:168299060A>C	uc003qwd.2	+	11	1632	c.1490A>C	c.(1489-1491)AAG>ACG	p.K497T	MLLT4_uc003qwb.1_Missense_Mutation_p.K482T|MLLT4_uc003qwc.1_Missense_Mutation_p.K498T|MLLT4_uc003qwf.2_Missense_Mutation_p.K183T	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	498					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		CATGTATTTAAGTTTGTGGAC	0.488			T	MLL	AL								C	168299060	A	C	168299060	3	2	199	1	0	0	0	0	1	0	0	0	9629	72	3	5	1535	5	MLLT4	6	168299060	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	79444717	168299060	2816007	40	110534											
COL28A1	340267	broad.mit.edu	37	chr7	7421221	7421221	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgccctttgggcctgggAagccttgtggtccttgttcc	13	11	0	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:7421221A>T	uc003src.1	-	28	2276	c.2159T>A	c.(2158-2160)TTC>TAC	p.F720Y	COL28A1_uc011jxe.1_Missense_Mutation_p.F403Y	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	720					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGGCCTGGGAAGCCTTGTGG	0.473													T	7421221	A	T	7421221	3	4	199	1	0	0	0	0	1	0	0	0	3686	246	9	5	1250	5	COL28A1	7	7421221	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08		7421221	151717442	41	110535											
AGR3	155465	broad.mit.edu	37	chr7	16900174	16900174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaatctgttagagtatcttCcagctatgtcagctctaact	6	10	4	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:16900174C>T	uc003sts.2	-	7	474	c.401G>A	c.(400-402)GGA>GAA	p.G134E		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	134						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AGAGTATCTTCCAGCTATGTC	0.378													T	16900174	C	T	16900174	3	4	199	1	0	0	0	0	1	0	0	0	396	855	30	4	107	4	AGR3	7	16900174	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	9478953	16900174	142238489	42	110536											
KBTBD2	25948	broad.mit.edu	37	chr7	32910203	32910203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaagacaaatactgggatCgtgattctgtgttatactct	9	7	2	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:32910203C>T	uc003tdb.2	-	4	1285	c.626G>A	c.(625-627)CGA>CAA	p.R209Q	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	209											0			GBM - Glioblastoma multiforme(11;0.0499)			ATACTGGGATCGTGATTCTGT	0.398													T	32910203	C	T	32910203	3	4	199	1	0	0	0	0	1	0	0	0	7993	884	31	1	1249	1	KBTBD2	7	32910203	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	16010029	32910203	126228460	43	110537											
CLIP2	7461	broad.mit.edu	37	chr7	73753314	73753314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggggcgaaaaggacctgCgcctgggggaccgcgtgctg	19	11	0	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:73753314C>T	uc003uam.2	+	3	985	c.658C>T	c.(658-660)CGC>TGC	p.R220C	CLIP2_uc003uan.2_Missense_Mutation_p.R220C	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	220						microtubule associated complex				skin(3)	3						AAAGGACCTGCGCCTGGGGGA	0.672													T	73753314	C	T	73753314	3	4	199	1	0	0	0	0	1	0	0	0	3533	768	27	1	664	1	CLIP2	7	73753314	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	40843111	73753314	85385349	44	110538											
PCLO	27445	broad.mit.edu	37	chr7	82582923	82582923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaggtgtagctgtagtcActggagatgcaactgttaac	12	7	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:82582923A>C	uc003uhx.2	-	5	7635	c.7346T>G	c.(7345-7347)GTG>GGG	p.V2449G	PCLO_uc003uhv.2_Missense_Mutation_p.V2449G|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2380	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGCTGTAGTCACTGGAGATGC	0.308													C	82582923	A	C	82582923	3	2	199	1	0	0	0	0	1	0	0	0	11583	159	6	5	8183	5	PCLO	7	82582923	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	8829609	82582923	76555740	45	110539											
GNGT1	2792	broad.mit.edu	37	chr7	93536131	93536131	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagttgaccagctcaagaaaGaagtgacactggaaagaatg	11	6	1	5			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:93536131G>T	uc003unc.1	+	2	221	c.73G>T	c.(73-75)GAA>TAA	p.E25*	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	25					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCTCAAGAAAGAAGTGACACT	0.388													T	93536131	G	T	93536131	4	4	199	1	0	0	0	0	0	1	0	0	6533	943	33	5	75	5	GNGT1	7	93536131	Nonsense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	10953208	93536131	65602532	46	110540											
SND1	27044	broad.mit.edu	37	chr7	127725833	127725833	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacattgactacggcaacGtgagtgttggggaccagagt	13	8	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:127725833G>A	uc003vmi.2	+	20	2530	c.2304_splice	c.e20+1	p.N768_splice	SND1_uc010lle.2_Splice_Site_p.N421_splice	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1						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			ovary(2)|central_nervous_system(1)	3						CTACGGCAACGTGAGTGTTGG	0.517													A	127725833	G	A	127725833	5	1	199	1	0	0	0	0	0	0	1	0	14844	1159	40	1	2383	1	SND1	7	127725833	Splice_Site	SNP	G	TCGA-CG-5734-01A-11D-1600-08	34189702	127725833	31412830	47	110541											
OPN1SW	611	broad.mit.edu	37	chr7	128412618	128412618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggccaacttgggtagaCgagacagtagaaacttctgt	13	7	1	3	rs140568559	byFrequency	TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr7:128412618C>T	uc003vnt.3	-	5	1023	c.1023G>A	c.(1021-1023)TCG>TCA	p.S341S		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	341	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0						CTTGGGTAGACGAGACAGTAG	0.443													T	128412618	C	T	128412618	2	4	199	1	0	0	0	0	0	0	0	1	10880	523	19	1		1	OPN1SW	7	128412618	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	686785	128412618	30726045	48	110542											
RP1L1	94137	broad.mit.edu	37	chr8	10468213	10468213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctggcaggagacccaAggtcttcctcaaataactgc	9	12	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:10468213A>G	uc003wtc.2	-	4	3624	c.3395T>C	c.(3394-3396)CTT>CCT	p.L1132P		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1132					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		AGGAGACCCAAGGTCTTCCTC	0.587													G	10468213	A	G	10468213	3	3	199	1	0	0	0	0	1	0	0	0	13533	72	3	3	3811	3	RP1L1	8	10468213	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08		10468213	135895809	49	110543											
NRG1	3084	broad.mit.edu	37	chr8	32617821	32617821	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccaactgggggcccaAgaggacgtcttaatggcaca	13	12	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:32617821A>C	uc003xiv.2	+	11	1682	c.1165A>C	c.(1165-1167)AGA>CGA	p.R389R	NRG1_uc011lbf.1_Silent_p.R386R|NRG1_uc010lvo.2_Silent_p.R386R|NRG1_uc003xiu.2_Silent_p.R394R|NRG1_uc003xiw.2_Silent_p.R386R|NRG1_uc003xit.2_Silent_p.R389R|NRG1_uc010lvr.2_Silent_p.R131R|NRG1_uc010lvs.2_Silent_p.R131R|NRG1_uc010lvp.2_Silent_p.R343R|NRG1_uc010lvq.2_Silent_p.R326R|NRG1_uc011lbg.1_Silent_p.R235R|NRG1_uc011lbh.1_Silent_p.R232R|NRG1_uc003xja.2_Silent_p.R200R	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	389	Cytoplasmic (Potential).				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|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|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGGGGGCCCAAGAGGACGTCT	0.527													C	32617821	A	C	32617821	2	2	199	1	0	0	0	0	0	0	0	1	10647	64	3	5		5	NRG1	8	32617821	Silent	SNP	A	TCGA-CG-5734-01A-11D-1600-08	22149608	32617821	113746201	50	110544											
AP3M2	10947	broad.mit.edu	37	chr8	42012342	42012342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgaggcagaaaatgtgcCtccggttatccctacccctc	8	14	0	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:42012342C>T	uc003xop.2	+	3	428	c.137C>T	c.(136-138)CCT>CTT	p.P46L	AP3M2_uc003xoo.2_Missense_Mutation_p.P46L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.P46L	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	46					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAAAATGTGCCTCCGGTTATC	0.483													T	42012342	C	T	42012342	3	4	199	1	0	0	0	0	1	0	0	0	748	681	24	4	139	4	AP3M2	8	42012342	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	9394521	42012342	104351680	51	110545											
PXDNL	137902	broad.mit.edu	37	chr8	52321476	52321476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcctgggattcccgctccGagctcccgtaaacgttggag	13	13	0	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:52321476G>A	uc003xqu.3	-	17	2809	c.2708C>T	c.(2707-2709)TCG>TTG	p.S903L	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	903					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCCCGCTCCGAGCTCCCGTA	0.597													A	52321476	G	A	52321476	3	1	199	1	0	0	0	0	1	0	0	0	12848	1059	37	1	1711	1	PXDNL	8	52321476	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	10309134	52321476	94042546	52	110546											
PCMTD1	115294	broad.mit.edu	37	chr8	52773689	52773690	+	Missense_Mutation	DNP	CC	CC	AA													ttaagtcatcattatcttccCcagcactcacagctcctccc							TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:52773689_52773690CC>AA	uc003xqx.3	-	2	363_364	c.22_23GG>TT	c.(22-24)GGG>TTG	p.G8L	PCMTD1_uc003xqw.3_Missense_Mutation_p.G8L|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.G8L	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	8						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATTATCTTCCCCAGCACTCACA	0.347													AA	52773690	CC	AA	52773689	3	1	199	1	0	0	0	0	1	0	0	0	11586	623	22	5	1070	5	PCMTD1	8	52773689	Missense_Mutation	DNP	CC	TCGA-CG-5734-01A-11D-1600-08	452213	52773689	93590333	53	110547											
PREX2	80243	broad.mit.edu	37	chr8	69032431	69032431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaatctctactattgatagGtggattcaattaccaatctc	6	8	3	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:69032431G>T	uc003xxv.1	+	29	3532	c.3505G>T	c.(3505-3507)GTG>TTG	p.V1169L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1169					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTATTGATAGGTGGATTCAAT	0.368													T	69032431	G	T	69032431	3	4	199	1	0	0	0	0	1	0	0	0	12477	1275	44	5	3848	5	PREX2	8	69032431	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	16258742	69032431	77331591	54	110548											
TM7SF4	81501	broad.mit.edu	37	chr8	105368424	105368424	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagtgcagacaagtcaTgagagaccccgactactcct	10	12	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:105368424T>C	uc003ylx.1	+	4	1460	c.1411T>C	c.(1411-1413)TGA>CGA	p.*471R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	471					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGACAAGTCATGAGAGACCCC	0.448													C	105368424	T	C	105368424	4	2	199	1	0	0	0	0	0	0	0	0	15973	1477	51	3	1421	3	TM7SF4	8	105368424	Nonstop_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	36335993	105368424	40995598	55	110549											
CSMD3	114788	broad.mit.edu	37	chr8	113256718	113256718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagccaggctgacaggtaTaaatcagtgtatacccatga	10	8	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:113256718T>C	uc003ynu.2	-	65	10466	c.10307A>G	c.(10306-10308)TAT>TGT	p.Y3436C	CSMD3_uc003yns.2_Missense_Mutation_p.Y2638C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3396C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3267C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3436	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTGACAGGTATAAATCAGTGT	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113256718	T	C	113256718	3	2	199	1	0	0	0	0	1	0	0	0	3946	1406	49	3	844	3	CSMD3	8	113256718	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	7888294	113256718	33107304	56	110550											
COL14A1	7373	broad.mit.edu	37	chr8	121222070	121222070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtcaaatgggatgcagTgcctggggcctcaggttacc	15	10	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr8:121222070T>C	uc003yox.2	+	12	1662	c.1397T>C	c.(1396-1398)GTG>GCG	p.V466A	COL14A1_uc003yoy.2_Missense_Mutation_p.V144A|COL14A1_uc010mde.1_Missense_Mutation_p.V144A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	466	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TGGGATGCAGTGCCTGGGGCC	0.473													C	121222070	T	C	121222070	3	2	199	1	0	0	0	0	1	0	0	0	3671	1696	59	3	1439	3	COL14A1	8	121222070	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	7965352	121222070	25141952	57	110551											
KIAA1797	54914	broad.mit.edu	37	chr9	20720434	20720434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgacaatgtagtggttcGaacagcctgctgtgaaggtc	13	8	0	2	rs143009945		TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr9:20720434G>A	uc003zog.1	+	6	551	c.188G>A	c.(187-189)CGA>CAA	p.R63Q		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	63						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GTAGTGGTTCGAACAGCCTGC	0.468													A	20720434	G	A	20720434	3	1	199	1	0	0	0	0	1	0	0	0	8258	1058	37	1	198	1	KIAA1797	9	20720434	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08		20720434	120492997	58	110552											
SLC35D2	11046	broad.mit.edu	37	chr9	99086398	99086398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctccaaccactgctgtcGtcagggctgaattgtaatag	11	10	1	1	rs145290742		TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr9:99086398G>T	uc004awc.2	-	10	882	c.806C>A	c.(805-807)ACG>AAG	p.T269K	SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Missense_Mutation_p.T222K|SLC35D2_uc010msf.2_Missense_Mutation_p.T181K|SLC35D2_uc004awd.2_Missense_Mutation_p.D111E	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2	269	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				CACTGCTGTCGTCAGGGCTGA	0.512													T	99086398	G	T	99086398	3	4	199	1	0	0	0	0	1	0	0	0	14582	1145	40	5	219	5	SLC35D2	9	99086398	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	78365964	99086398	42127033	59	110553											
ASTN2	23245	broad.mit.edu	37	chr9	119380718	119380718	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactccaaggagaccacagtActggagggctccactgttgg	12	12	0	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr9:119380718A>T	uc004bjs.1	-	19	3341	c.3240T>A	c.(3238-3240)AGT>AGA	p.S1080R	ASTN2_uc004bjr.1_Missense_Mutation_p.S1076R|ASTN2_uc004bjt.1_Missense_Mutation_p.S1029R|ASTN2_uc004bjp.1_Missense_Mutation_p.S173R|ASTN2_uc004bjq.1_Missense_Mutation_p.S132R|ASTN2_uc011lxr.1_Missense_Mutation_p.S132R|ASTN2_uc011lxs.1_Missense_Mutation_p.S132R|ASTN2_uc011lxt.1_Missense_Mutation_p.S132R|ASTN2_uc004bjv.1_Missense_Mutation_p.S132R	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1080	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						AGACCACAGTACTGGAGGGCT	0.527													T	119380718	A	T	119380718	3	4	199	1	0	0	0	0	1	0	0	0	1065	388	14	5	918	5	ASTN2	9	119380718	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	20294320	119380718	21832713	60	110554											
SETX	23064	broad.mit.edu	37	chr9	135205649	135205649	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacacacagcatctgtttGgttgaggacttctttgactt	9	9	3	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr9:135205649G>A	uc004cbk.2	-	10	1519	c.1336C>T	c.(1336-1338)CAA>TAA	p.Q446*	SETX_uc004cbj.2_Nonsense_Mutation_p.Q65*|SETX_uc010mzt.2_Nonsense_Mutation_p.Q65*	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	446					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCATCTGTTTGGTTGAGGACT	0.383													A	135205649	G	A	135205649	4	1	199	1	0	0	0	0	0	1	0	0	14141	1357	47	4	6765	4	SETX	9	135205649	Nonsense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	15824931	135205649	6007782	61	110555											
ENKUR	219670	broad.mit.edu	37	chr10	25273753	25273753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccagcctctgcttgcGgatcttctttggtatagaat	8	10	4	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr10:25273753G>A	uc001isg.1	-	5	841	c.676C>T	c.(676-678)CGC>TGC	p.R226C	ENKUR_uc001ish.1_Missense_Mutation_p.R164C	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	226						cilium|flagellum	calmodulin binding|SH3 domain binding				0						CTCTGCTTGCGGATCTTCTTT	0.388													A	25273753	G	A	25273753	3	1	199	1	0	0	0	0	1	0	0	0	5120	1116	39	1	102	1	ENKUR	10	25273753	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08		25273753	110260994	62	110556											
FRMPD2	143162	broad.mit.edu	37	chr10	49420007	49420007	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggccttaccctcaagaacTtcagctcagcatcctctccc	5	17	4	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr10:49420007T>G	uc001jgi.2	-	13	1708	c.1601A>C	c.(1600-1602)AAG>ACG	p.K534T	FRMPD2_uc001jgh.2_Missense_Mutation_p.K502T|FRMPD2_uc001jgj.2_Missense_Mutation_p.K512T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	534	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CCTCAAGAACTTCAGCTCAGC	0.582													G	49420007	T	G	49420007	3	3	199	1	0	0	0	0	1	0	0	0	6058	1609	56	5	2396	5	FRMPD2	10	49420007	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	24146254	49420007	86114740	63	110557											
GRID1	2894	broad.mit.edu	37	chr10	87482893	87482893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggagttcacggaagattCgccacctgcgggaggcagac	14	11	1	2	rs148165863		TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr10:87482893C>T	uc001kdl.1	-	12	1965	c.1864G>A	c.(1864-1866)GAA>AAA	p.E622K	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.E193K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	622	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	ACGGAAGATTCGCCACCTGCG	0.602										Multiple Myeloma(13;0.14)			T	87482893	C	T	87482893	3	4	199	1	0	0	0	0	1	0	0	0	6771	893	31	1	1185	1	GRID1	10	87482893	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	38062886	87482893	48051854	64	110558											
SORCS3	22986	broad.mit.edu	37	chr10	106907471	106907471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctacatctcagacacgCgtgggatttacttcactctg	7	13	4	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr10:106907471C>T	uc001kyi.1	+	9	1626	c.1399C>T	c.(1399-1401)CGT>TGT	p.R467C		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	467	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		CTCAGACACGCGTGGGATTTA	0.453													T	106907471	C	T	106907471	3	4	199	1	0	0	0	0	1	0	0	0	14932	768	27	1	1433	1	SORCS3	10	106907471	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	19424578	106907471	28627276	65	110559											
SORCS1	114815	broad.mit.edu	37	chr10	108458997	108458997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcgatcatgatgttgCcctcagggcctctgctgctc	12	12	3	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr10:108458997C>T	uc001kym.2	-	9	1396	c.1388G>A	c.(1387-1389)GGC>GAC	p.G463D	SORCS1_uc001kyl.2_Missense_Mutation_p.G463D|SORCS1_uc009xxs.2_Missense_Mutation_p.G463D|SORCS1_uc001kyn.1_Missense_Mutation_p.G463D|SORCS1_uc001kyo.2_Missense_Mutation_p.G463D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	463	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATGATGTTGCCCTCAGGGCC	0.542													T	108458997	C	T	108458997	3	4	199	1	0	0	0	0	1	0	0	0	14930	739	26	2	2424	2	SORCS1	10	108458997	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	1551526	108458997	27075750	66	110560											
MKI67	4288	broad.mit.edu	37	chr10	129907388	129907388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgccttctgacctctttTtaggatgcactcaacaattt	6	10	3	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr10:129907388T>G	uc001lke.2	-	13	2911	c.2716A>C	c.(2716-2718)AAA>CAA	p.K906Q	MKI67_uc001lkf.2_Missense_Mutation_p.K546Q|MKI67_uc009yav.1_Missense_Mutation_p.K481Q|MKI67_uc009yaw.1_Missense_Mutation_p.K56Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	906					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TGACCTCTTTTTAGGATGCAC	0.363													G	129907388	T	G	129907388	3	3	199	1	0	0	0	0	1	0	0	0	9598	1850	64	5	7066	5	MKI67	10	129907388	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	21448391	129907388	5627359	67	110561											
ADAM8	101	broad.mit.edu	37	chr10	135083907	135083907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgggcactggttcatacGcagtgccatcctctgtggtg	12	13	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr10:135083907G>A	uc010qva.1	-	15	1676	c.1625C>T	c.(1624-1626)GCG>GTG	p.A542V	ADAM8_uc010quz.1_Missense_Mutation_p.A581V|ADAM8_uc009ybi.2_Missense_Mutation_p.A581V			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	542					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		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)		TGGTTCATACGCAGTGCCATC	0.672													A	135083907	G	A	135083907	3	1	199	1	0	0	0	0	1	0	0	0	252	1087	38	1	682	1	ADAM8	10	135083907	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	5176519	135083907	450840	68	110562											
NUP160	23279	broad.mit.edu	37	chr11	47837151	47837151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagaattcttgttgtaaAtttcgaaactcctcctggga	7	10	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:47837151A>G	uc001ngm.2	-	13	1651	c.1566T>C	c.(1564-1566)AAT>AAC	p.N522N	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	522					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			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						CTTGTTGTAAATTTCGAAACT	0.403													G	47837151	A	G	47837151	2	3	199	1	0	0	0	0	0	0	0	1	10757	98	4	3		3	NUP160	11	47837151	Silent	SNP	A	TCGA-CG-5734-01A-11D-1600-08		47837151	87169365	69	110563											
OR4D6	219983	broad.mit.edu	37	chr11	59224624	59224624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatgtactttctcctgcGgaacaaatcagtcctggaca	7	12	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:59224624G>A	uc010rku.1	+	1	191	c.191G>A	c.(190-192)CGG>CAG	p.R64Q		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTTCTCCTGCGGAACAAATCA	0.458													A	59224624	G	A	59224624	3	1	199	1	0	0	0	0	1	0	0	0	11058	1116	39	1	193	1	OR4D6	11	59224624	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	11387473	59224624	75781892	70	110564											
MS4A13	503497	broad.mit.edu	37	chr11	60285672	60285672	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaacaggatgtacttTatggggaatttttgtgagta	10	3	0	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:60285672T>A	uc001nps.2	+	3	439	c.116T>A	c.(115-117)TTA>TAA	p.L39*	MS4A13_uc009ync.2_Nonsense_Mutation_p.L39*|MS4A13_uc009ynd.2_Nonsense_Mutation_p.L39*	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member	39	Helical; (Potential).					integral to membrane					0						GGATGTACTTTATGGGGAATT	0.323													A	60285672	T	A	60285672	4	1	199	1	0	0	0	0	0	1	0	0	9857	1764	61	5	118	5	MS4A13	11	60285672	Nonsense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	1061048	60285672	74720844	71	110565											
RAB38	23682	broad.mit.edu	37	chr11	87883041	87883041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactgcttcaaatgtggcTggcctggtgacatcgaagac	12	11	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:87883041T>C	uc001pcj.1	-	2	332	c.285A>G	c.(283-285)CCA>CCG	p.P95P		NM_022337	NP_071732	P57729	RAB38_HUMAN	RAB38	95					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAATGTGGCTGGCCTGGTGA	0.428													C	87883041	T	C	87883041	2	2	199	1	0	0	0	0	0	0	0	1	12928	1567	55	3		3	RAB38	11	87883041	Silent	SNP	T	TCGA-CG-5734-01A-11D-1600-08	27597369	87883041	47123475	72	110566											
CNTN5	53942	broad.mit.edu	37	chr11	99827732	99827732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacgccactcactctgCgtaatgatggtaagttgctt	8	12	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:99827732C>T	uc001pga.2	+	8	1207	c.868C>T	c.(868-870)CGT>TGT	p.R290C	CNTN5_uc009ywv.1_Missense_Mutation_p.R290C|CNTN5_uc001pfz.2_Missense_Mutation_p.R290C|CNTN5_uc001pgb.2_Missense_Mutation_p.R216C	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	290					cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		ACTCACTCTGCGTAATGATGG	0.398													T	99827732	C	T	99827732	3	4	199	1	0	0	0	0	1	0	0	0	3644	768	27	1	890	1	CNTN5	11	99827732	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	11944691	99827732	35178784	73	110567											
SIK3	23387	broad.mit.edu	37	chr11	116718205	116718205	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaccctcattttccccAtcctgaaactgctggctgcc	5	18	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:116718205A>T	uc001ppy.2	-	22	3657	c.3621T>A	c.(3619-3621)GAT>GAA	p.D1207E	SIK3_uc001ppz.2_Missense_Mutation_p.D1046E|SIK3_uc001pqa.2_Missense_Mutation_p.D1147E|SIK3_uc001ppw.2_Missense_Mutation_p.D564E|SIK3_uc001ppx.2_Missense_Mutation_p.D585E	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1207						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						CATTTTCCCCATCCTGAAACT	0.562													T	116718205	A	T	116718205	3	4	199	1	0	0	0	0	1	0	0	0	14319	214	8	5	178	5	SIK3	11	116718205	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	16890473	116718205	18288311	74	110568											
OR6X1	390260	broad.mit.edu	37	chr11	123624910	123624910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcaagaactcggtggtgCccacgaagaagtggaagaag	15	7	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:123624910C>T	uc010rzy.1	-	1	317	c.317G>A	c.(316-318)GGC>GAC	p.G106D		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		CTCGGTGGTGCCCACGAAGAA	0.522													T	123624910	C	T	123624910	3	4	199	1	0	0	0	0	1	0	0	0	11212	739	26	2	623	2	OR6X1	11	123624910	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	6906705	123624910	11381606	75	110569											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278390	130278390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggacccggagaccttccTgcaggagttgcctttgcccc	13	14	0	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr11:130278390T>C	uc001qgg.3	-	8	2426	c.2068A>G	c.(2068-2070)AGG>GGG	p.R690G	ADAMTS8_uc001qgf.2_Missense_Mutation_p.R171G	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	690	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)	1	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)		GAGACCTTCCTGCAGGAGTTG	0.512													C	130278390	T	C	130278390	3	2	199	1	0	0	0	0	1	0	0	0	272	1579	55	3	609	3	ADAMTS8	11	130278390	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	6653480	130278390	4728126	76	110570											
KCNA6	3742	broad.mit.edu	37	chr12	4920073	4920073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcctgccctagcaagcCggccttcttccggaacatca	8	18	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr12:4920073C>T	uc001qng.2	+	1	1732	c.866C>T	c.(865-867)CCG>CTG	p.P289L		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	289						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CCTAGCAAGCCGGCCTTCTTC	0.552										HNSCC(72;0.22)			T	4920073	C	T	4920073	3	4	199	1	0	0	0	0	1	0	0	0	8007	652	23	1	868	1	KCNA6	12	4920073	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08		4920073	128931822	77	110571											
TMEM106C	79022	broad.mit.edu	37	chr12	48359740	48359740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaaagtggtgaaagtcaCatttaataagcaagactccc	7	9	2	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr12:48359740C>A	uc001rqp.2	+	4	486	c.371C>A	c.(370-372)ACA>AAA	p.T124K	TMEM106C_uc001rqo.2_Missense_Mutation_p.T124K|TMEM106C_uc001rqr.2_Missense_Mutation_p.T124K|TMEM106C_uc001rqq.2_Missense_Mutation_p.T124K	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	124						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GTGAAAGTCACATTTAATAAG	0.488													A	48359740	C	A	48359740	3	1	199	1	0	0	0	0	1	0	0	0	16019	478	17	5	381	5	TMEM106C	12	48359740	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	43439667	48359740	85492155	78	110572											
GRIP1	23426	broad.mit.edu	37	chr12	66935616	66935616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagcaattcctccttgcCgcagattagatactcttggc	8	12	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr12:66935616C>T	uc001stk.2	-	3	492	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	GRIP1_uc010sta.1_Missense_Mutation_p.R28Q|GRIP1_uc001stl.1_Missense_Mutation_p.R28Q|GRIP1_uc001stm.2_Missense_Mutation_p.R84Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	84	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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCTCCTTGCCGCAGATTAGA	0.463													T	66935616	C	T	66935616	3	4	199	1	0	0	0	0	1	0	0	0	6787	652	23	1	3067	1	GRIP1	12	66935616	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	18575876	66935616	66916279	79	110573											
CIT	11113	broad.mit.edu	37	chr12	120271923	120271923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagatgaacgctgtgaAcagccaaaatcagctcagct	8	12	3	3	rs75000396		TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr12:120271923A>G	uc001txi.1	-	6	679	c.626T>C	c.(625-627)GTT>GCT	p.V209A	CIT_uc001txj.1_Missense_Mutation_p.V209A	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	209	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AACGCTGTGAACAGCCAAAAT	0.443													G	120271923	A	G	120271923	3	3	199	1	0	0	0	0	1	0	0	0	3438	43	2	3	5625	3	CIT	12	120271923	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	53336307	120271923	13579972	80	110574											
EP400	57634	broad.mit.edu	37	chr12	132497672	132497672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcattgatgagatgcagcGcgtgaagggcatgaccgaga	16	7	1	5			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr12:132497672G>A	uc001ujn.2	+	16	3595	c.3560G>A	c.(3559-3561)CGC>CAC	p.R1187H	EP400_uc001ujl.2_Missense_Mutation_p.R1186H|EP400_uc001ujm.2_Missense_Mutation_p.R1187H	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1223	Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		GAGATGCAGCGCGTGAAGGGC	0.557													A	132497672	G	A	132497672	3	1	199	1	0	0	0	0	1	0	0	0	5149	1087	38	1	3619	1	EP400	12	132497672	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	12225749	132497672	1354223	81	110575											
DDX51	317781	broad.mit.edu	37	chr12	132627302	132627302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgagatgccgtgtgccCgcagctgcttctgcaggtca	14	12	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr12:132627302C>T	uc001ujy.3	-	3	680	c.641G>A	c.(640-642)CGG>CAG	p.R214Q	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	214					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	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)		GCCGTGTGCCCGCAGCTGCTT	0.617													T	132627302	C	T	132627302	3	4	199	1	0	0	0	0	1	0	0	0	4369	652	23	1	1411	1	DDX51	12	132627302	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	129630	132627302	1224593	82	110576											
TNFRSF19	55504	broad.mit.edu	37	chr13	24190168	24190168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgatgccatctgcGgggactgcttgccagggtga	14	12	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr13:24190168G>A	uc001uov.1	+	4	407	c.343G>A	c.(343-345)GGG>AGG	p.G115R	TNFRSF19_uc001uot.2_Missense_Mutation_p.G115R|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.G115R	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	115	Extracellular (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGCCATCTGCGGGGACTGCTT	0.473													A	24190168	G	A	24190168	3	1	199	1	0	0	0	0	1	0	0	0	16289	1116	39	1	353	1	TNFRSF19	13	24190168	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08		24190168	90979710	83	110577											
KPNA3	3839	broad.mit.edu	37	chr13	50279772	50279772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctccacattcctctaTtatttcagctattgtgcttg	4	12	2	0	rs79884028		TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr13:50279772T>C	uc001vdj.2	-	15	1772	c.1357A>G	c.(1357-1359)ATA>GTA	p.I453V		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	453	ARM 10; atypical.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-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;1.42e-09)		CATTCCTCTATTATTTCAGCT	0.383													C	50279772	T	C	50279772	3	2	199	1	0	0	0	0	1	0	0	0	8431	1493	52	3	220	3	KPNA3	13	50279772	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	26089604	50279772	64890106	84	110578											
ABCC4	10257	broad.mit.edu	37	chr13	95859004	95859004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaattcatccctctgaggcAggaacttctcagaatcttgg	8	11	4	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr13:95859004A>T	uc001vmd.3	-	8	1062	c.943T>A	c.(943-945)TGC>AGC	p.C315S	ABCC4_uc010afk.2_Missense_Mutation_p.C315S|ABCC4_uc001vme.2_Missense_Mutation_p.C315S|ABCC4_uc010tih.1_Missense_Mutation_p.C240S|ABCC4_uc001vmf.2_Missense_Mutation_p.C272S|ABCC4_uc010afl.1_Missense_Mutation_p.C272S|ABCC4_uc010afm.1_Missense_Mutation_p.C328S	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	315	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			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCTCTGAGGCAGGAACTTCTC	0.393													T	95859004	A	T	95859004	3	4	199	1	0	0	0	0	1	0	0	0	55	188	7	5	3179	5	ABCC4	13	95859004	Missense_Mutation	SNP	A	TCGA-CG-5734-01A-11D-1600-08	45579232	95859004	19310874	85	110579											
KDELC1	79070	broad.mit.edu	37	chr13	103446097	103446097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttcagggcagttcatctCccgtagccaggctgcactat	11	12	3	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr13:103446097C>T	uc001vpq.3	-	3	832	c.448G>A	c.(448-450)GAG>AAG	p.E150K	KDELC1_uc001vpr.3_5'UTR	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	150						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGTTCATCTCCCGTAGCCAG	0.438													T	103446097	C	T	103446097	3	4	199	1	0	0	0	0	1	0	0	0	8117	864	30	4	1092	4	KDELC1	13	103446097	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	7587093	103446097	11723781	86	110580											
OR4L1	122742	broad.mit.edu	37	chr14	20529107	20529107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggccataagaaaattaCggttccaatatgttagttct	8	6	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr14:20529107C>T	uc001vwn.1	+	1	904	c.904C>T	c.(904-906)CGG>TGG	p.R302W		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302L(1)		ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAAATTACGGTTCCAATA	0.303													T	20529107	C	T	20529107	3	4	199	1	0	0	0	0	1	0	0	0	11074	527	19	1	906	1	OR4L1	14	20529107	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08		20529107	86820433	87	110581											
ZFYVE26	23503	broad.mit.edu	37	chr14	68244307	68244307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacagcgcctggatttcaCggtgtcggacagcagtcagt	12	11	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr14:68244307C>T	uc001xka.2	-	25	5082	c.4943G>A	c.(4942-4944)CGT>CAT	p.R1648H	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.R1648H	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1648					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGATTTCACGGTGTCGGAC	0.532													T	68244307	C	T	68244307	3	4	199	1	0	0	0	0	1	0	0	0	17665	536	19	1	2748	1	ZFYVE26	14	68244307	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	47715200	68244307	39105233	88	110582											
SPTBN5	51332	broad.mit.edu	37	chr15	42143986	42143986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcactcacctgcctcccGccaggcagcaggtgctgctt	11	17	1	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr15:42143986G>A	uc001zos.2	-	63	10875	c.10542C>T	c.(10540-10542)GGC>GGT	p.G3514G		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3549	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		CCTGCCTCCCGCCAGGCAGCA	0.597													A	42143986	G	A	42143986	2	1	199	1	0	0	0	0	0	0	0	1	15121	1074	38	1		1	SPTBN5	15	42143986	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08		42143986	60387406	89	110583											
ADAM10	102	broad.mit.edu	37	chr15	58920052	58920052	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgacccaaattcttagattCtcctggtgtgcactctgttc	7	11	3	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr15:58920052C>T	uc002afd.1	-	10	1651	c.1207G>A	c.(1207-1209)GAA>AAA	p.E403K	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.E102K|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	403	Peptidase M12B.|Extracellular (Potential).				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			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		TTCTTAGATTCTCCTGGTGTG	0.348													T	58920052	C	T	58920052	3	4	199	1	0	0	0	0	1	0	0	0	234	922	32	4	1067	4	ADAM10	15	58920052	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	16776066	58920052	43611340	90	110584											
BTBD12	84464	broad.mit.edu	37	chr16	3639390	3639390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattggaattggggggtcacTgtccagtggggggcttctgt	17	6	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr16:3639390T>C	uc002cvp.2	-	12	4876	c.4249A>G	c.(4249-4251)AGT>GGT	p.S1417G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1417	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GGGGGGTCACTGTCCAGTGGG	0.622								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				C	3639390	T	C	3639390	3	2	199	1	0	0	0	0	1	0	0	0	1540	1580	55	3	1271	3	BTBD12	16	3639390	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08		3639390	86715363	91	110585											
BTBD12	84464	broad.mit.edu	37	chr16	3640449	3640449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccacctgggaagttcCgccacgggaccggggtgttg	17	12	0	0	rs142079276	byFrequency	TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr16:3640449C>T	uc002cvp.2	-	12	3817	c.3190G>A	c.(3190-3192)GGA>AGA	p.G1064R		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1064	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TGGGAAGTTCCGCCACGGGAC	0.637								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				T	3640449	C	T	3640449	3	4	199	1	0	0	0	0	1	0	0	0	1540	661	23	1	2330	1	BTBD12	16	3640449	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	1059	3640449	86714304	92	110586											
NOMO1	23420	broad.mit.edu	37	chr16	14970589	14970589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggctatgttctgactgCggtggaaggaaccatcggag	17	7	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr16:14970589C>T	uc002dcv.2	+	22	2651	c.2585C>T	c.(2584-2586)GCG>GTG	p.A862V		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	862	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						GTTCTGACTGCGGTGGAAGGA	0.473													T	14970589	C	T	14970589	3	4	199	1	0	0	0	0	1	0	0	0	10531	768	27	1	2671	1	NOMO1	16	14970589	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	11330140	14970589	75384164	93	110587											
SRCAP	10847	broad.mit.edu	37	chr16	30750658	30750658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctggacttagcagatagCgggccaggcgggttggaatt	16	8	0	1	rs146224299		TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr16:30750658C>T	uc002dze.1	+	34	9682	c.9297C>T	c.(9295-9297)AGC>AGT	p.S3099S	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.S2894S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3099					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TAGCAGATAGCGGGCCAGGCG	0.592													T	30750658	C	T	30750658	2	4	199	1	0	0	0	0	0	0	0	1	15134	767	27	1		1	SRCAP	16	30750658	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	15780069	30750658	59604095	94	110588											
PYCARD	29108	broad.mit.edu	37	chr16	31213016	31213016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaactgaagagcttccGcatcttgcttgggttggtgg	14	7	1	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr16:31213016G>A	uc010cak.2	-	3	718	c.478C>T	c.(478-480)CGG>TGG	p.R160W	PYCARD_uc002ebm.2_Missense_Mutation_p.R141W	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing isoform a	160	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding				0						AAGAGCTTCCGCATCTTGCTT	0.597													A	31213016	G	A	31213016	3	1	199	1	0	0	0	0	1	0	0	0	12854	1086	38	1	113	1	PYCARD	16	31213016	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	462358	31213016	59141737	95	110589											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66759770	66759770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcaccccaccagcaccagGacttccaggagagcctgtct	9	17	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr16:66759770G>A	uc002eqb.1	-	12	1370	c.1339C>T	c.(1339-1341)CCT>TCT	p.P447S	DYNC1LI2_uc010vis.1_Missense_Mutation_p.P370S	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	447					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CCAGCACCAGGACTTCCAGGA	0.488													A	66759770	G	A	66759770	3	1	199	1	0	0	0	0	1	0	0	0	4845	1174	41	4	147	4	DYNC1LI2	16	66759770	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	35546754	66759770	23594983	96	110590											
ELMO3	79767	broad.mit.edu	37	chr16	67237416	67237416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacctctatgagttggCcttctcaatcagctatgacc	8	13	3	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr16:67237416C>A	uc002esa.2	+	19	2082	c.2039C>A	c.(2038-2040)GCC>GAC	p.A680D	ELMO3_uc002esb.2_Missense_Mutation_p.A663D|ELMO3_uc002esc.2_Missense_Mutation_p.A514D|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	627	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TATGAGTTGGCCTTCTCAATC	0.647													A	67237416	C	A	67237416	3	1	199	1	0	0	0	0	1	0	0	0	5067	739	26	5	2113	5	ELMO3	16	67237416	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	477646	67237416	23117337	97	110591											
MYH10	4628	broad.mit.edu	37	chr17	8390909	8390909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccgcctcgagctcccGcacctaatggacaacatcgg	9	17	0	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr17:8390909G>A	uc002gll.2	-	34	4891	c.4795C>T	c.(4795-4797)CGG>TGG	p.R1599W	MYH10_uc002glm.2_Missense_Mutation_p.R1630W|MYH10_uc010cnx.2_Missense_Mutation_p.R1608W	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1599	Potential.				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			ovary(2)	2						TCGAGCTCCCGCACCTAATGG	0.547													A	8390909	G	A	8390909	3	1	199	1	0	0	0	0	1	0	0	0	10030	1086	38	1	1167	1	MYH10	17	8390909	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08		8390909	72804301	98	110592											
MYH10	4628	broad.mit.edu	37	chr17	8508154	8508154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaattaccttgaagcatGcatctgtaagcagattcaga	7	9	2	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr17:8508154G>A	uc002gll.2	-	3	588	c.492C>T	c.(490-492)TGC>TGT	p.C164C	MYH10_uc002glm.2_Silent_p.C164C|MYH10_uc010cnx.2_Silent_p.C164C	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	164	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			ovary(2)	2						CTTGAAGCATGCATCTGTAAG	0.313													A	8508154	G	A	8508154	2	1	199	1	0	0	0	0	0	0	0	1	10030	1311	46	2		2	MYH10	17	8508154	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08	117245	8508154	72687056	99	110593											
TBX21	30009	broad.mit.edu	37	chr17	45822578	45822578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagattgcccccatccggcCggaatccagtgattcaggac	11	13	1	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr17:45822578C>T	uc002ilv.1	+	6	1665	c.1454C>T	c.(1453-1455)CCG>CTG	p.P485L		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	485					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				0						CCCATCCGGCCGGAATCCAGT	0.657													T	45822578	C	T	45822578	3	4	199	1	0	0	0	0	1	0	0	0	15654	652	23	1	1476	1	TBX21	17	45822578	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	37314424	45822578	35372632	100	110594											
ITGA3	3675	broad.mit.edu	37	chr17	48155636	48155636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggactatacactccagaCctcgcttagcatgtgggtac	11	11	0	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr17:48155636C>T	uc010dbl.2	+	18	2749	c.2285C>T	c.(2284-2286)ACC>ATC	p.T762I	ITGA3_uc010dbm.2_Missense_Mutation_p.T762I	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	762	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						ACACTCCAGACCTCGCTTAGC	0.577													T	48155636	C	T	48155636	3	4	199	1	0	0	0	0	1	0	0	0	7877	507	18	4	2355	4	ITGA3	17	48155636	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	2333058	48155636	33039574	101	110595											
CDH2	1000	broad.mit.edu	37	chr18	25573520	25573520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtcactgtgatgacggCcgtggctgtgtttgaaaggc	14	8	2	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr18:25573520C>T	uc002kwg.2	-	8	1561	c.1102G>A	c.(1102-1104)GCC>ACC	p.A368T	CDH2_uc010xbn.1_Missense_Mutation_p.A337T	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	368	Extracellular (Potential).|Cadherin 2.				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			ovary(3)|lung(1)	4						GTGATGACGGCCGTGGCTGTG	0.438													T	25573520	C	T	25573520	3	4	199	1	0	0	0	0	1	0	0	0	3105	739	26	2	1654	2	CDH2	18	25573520	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08		25573520	52503728	102	110596											
NFATC1	4772	broad.mit.edu	37	chr18	77246937	77246937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagttgtacctggatgacGgtgagtgcccgcagccatgc	13	12	0	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr18:77246937G>A	uc010xfg.1	+	9	3235	c.2782G>A	c.(2782-2784)GTA>ATA	p.V928I	NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.V456I|NFATC1_uc002lnf.2_Missense_Mutation_p.V915I|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	928	Nuclear export signal.|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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTGGATGACGGTGAGTGCCC	0.617													A	77246937	G	A	77246937	3	1	199	1	0	0	0	0	1	0	0	0	10361	1130	39	1	2967	1	NFATC1	18	77246937	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	51673417	77246937	830311	103	110597											
ELAVL1	1994	broad.mit.edu	37	chr19	8028580	8028580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgccagaggatcccctcGtcggcatcctgccccaggtt	10	16	1	1	rs145371492	by1000genomes	TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr19:8028580G>A	uc002mjb.2	-	6	935	c.768C>T	c.(766-768)GAC>GAT	p.D256D		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	256	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GGATCCCCTCGTCGGCATCCT	0.572													A	8028580	G	A	8028580	2	1	199	1	0	0	0	0	0	0	0	1	5049	1136	40	1		1	ELAVL1	19	8028580	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08		8028580	51100403	104	110598											
MUC16	94025	broad.mit.edu	37	chr19	9047614	9047614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgattcatgtggggaCtcaggcactgttggaaaagt	13	8	3	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr19:9047614C>A	uc002mkp.2	-	5	34221	c.34017G>T	c.(34015-34017)GAG>GAT	p.E11339D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11341	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CATGTGGGGACTCAGGCACTG	0.483													A	9047614	C	A	9047614	3	1	199	1	0	0	0	0	1	0	0	0	9973	564	20	5	9826	5	MUC16	19	9047614	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	1019034	9047614	50081369	105	110599											
ZNF823	55552	broad.mit.edu	37	chr19	11832637	11832637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgagttttttcatgtcctCgaaggaaacgggaacgagtg	13	6	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr19:11832637C>T	uc002msm.2	-	4	1838	c.1712G>A	c.(1711-1713)CGA>CAA	p.R571Q	ZNF823_uc010xmd.1_Missense_Mutation_p.R389Q|ZNF823_uc010dyi.1_Missense_Mutation_p.R527Q	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	571	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTCATGTCCTCGAAGGAAACG	0.433										HNSCC(68;0.2)			T	11832637	C	T	11832637	3	4	199	1	0	0	0	0	1	0	0	0	18176	884	31	1	124	1	ZNF823	19	11832637	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	2785023	11832637	47296346	106	110600											
LRRC4B	94030	broad.mit.edu	37	chr19	51021776	51021776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgagggtgccgttgggCgtcagccagttgacggaggt	18	8	2	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr19:51021776C>T	uc002pss.2	-	3	1331	c.1194G>A	c.(1192-1194)ACG>ACA	p.T398T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	398	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCCGTTGGGCGTCAGCCAGT	0.647													T	51021776	C	T	51021776	2	4	199	1	0	0	0	0	0	0	0	1	9007	755	27	1		1	LRRC4B	19	51021776	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	39189139	51021776	8107207	107	110601											
NLRP5	126206	broad.mit.edu	37	chr19	56552381	56552381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacacctgtgcctatccaaCaacagcctggggaacgaagg	10	13	0	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr19:56552381C>A	uc002qmj.2	+	11	2880	c.2880C>A	c.(2878-2880)AAC>AAA	p.N960K	NLRP5_uc002qmi.2_Missense_Mutation_p.N941K	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	960	LRR 8.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCTATCCAACAACAGCCTGG	0.577													A	56552381	C	A	56552381	3	1	199	1	0	0	0	0	1	0	0	0	10480	477	17	5	2922	5	NLRP5	19	56552381	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08	5530605	56552381	2576602	108	110602											
PREX1	57580	broad.mit.edu	37	chr20	47276504	47276504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagcttgaagtcgttgcGaagctgtttgttcttgctgc	11	10	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr20:47276504G>A	uc002xtw.1	-	16	1857	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	612					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGTCGTTGCGAAGCTGTTTG	0.577													A	47276504	G	A	47276504	3	1	199	1	0	0	0	0	1	0	0	0	12476	1058	37	1	3245	1	PREX1	20	47276504	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08		47276504	15749016	109	110603											
APP	351	broad.mit.edu	37	chr21	27372462	27372462	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgggagatcattgctcGgcacggccccgtctcggctt	13	15	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr21:27372462G>T	uc002ylz.2	-	7	1101	c.901C>A	c.(901-903)CGA>AGA	p.R301R	APP_uc010glk.2_Silent_p.R296R|APP_uc002yma.2_Silent_p.R301R|APP_uc011ach.1_Silent_p.R245R|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	301	Extracellular (Potential).|BPTI/Kunitz inhibitor.	Reactive bond.			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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				ATCATTGCTCGGCACGGCCCC	0.517													T	27372462	G	T	27372462	2	4	199	1	0	0	0	0	0	0	0	1	815	1124	39	5		5	APP	21	27372462	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08		27372462	20757433	110	110604											
GRIK1	2897	broad.mit.edu	37	chr21	31015233	31015233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacggtcagctgggatgcCcggtgcgaggcaatggccac	16	12	1	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr21:31015233C>T	uc002yno.1	-	7	1475	c.1011G>A	c.(1009-1011)CGG>CGA	p.R337R	GRIK1_uc002ynn.2_Silent_p.R337R|GRIK1_uc011acs.1_Silent_p.R337R|GRIK1_uc011act.1_Silent_p.R281R|GRIK1_uc010glq.1_Silent_p.R195R|GRIK1_uc002ynr.2_Silent_p.R337R	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	337	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCTGGGATGCCCGGTGCGAGG	0.532													T	31015233	C	T	31015233	2	4	199	1	0	0	0	0	0	0	0	1	6773	610	22	4		4	GRIK1	21	31015233	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	3642771	31015233	17114662	111	110605											
KLHL22	84861	broad.mit.edu	37	chr22	20819530	20819530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagcggaaaccgcactgTctcaaggagctttgggggct	13	11	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr22:20819530T>C	uc002zsl.1	-	4	836	c.727A>G	c.(727-729)ACA>GCA	p.T243A	KLHL22_uc011ahr.1_Missense_Mutation_p.T100A|KLHL22_uc002zsm.1_Missense_Mutation_p.T243A	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	243					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			AACCGCACTGTCTCAAGGAGC	0.602													C	20819530	T	C	20819530	3	2	199	1	0	0	0	0	1	0	0	0	8377	1667	58	3	1193	3	KLHL22	22	20819530	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08		20819530	30485036	112	110606											
GGT5	2687	broad.mit.edu	37	chr22	24621533	24621533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgagggggtggtgccGgaaccccgggggcatcgctc	19	12	0	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr22:24621533G>A	uc002zzo.3	-	9	1734	c.1317C>T	c.(1315-1317)TCC>TCT	p.S439S	GGT5_uc002zzp.3_Silent_p.S439S|GGT5_uc002zzr.3_Silent_p.S407S|GGT5_uc002zzq.3_Silent_p.S407S|GGT5_uc011ajm.1_Silent_p.S362S	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	439	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						GGGTGGTGCCGGAACCCCGGG	0.647													A	24621533	G	A	24621533	2	1	199	1	0	0	0	0	0	0	0	1	6362	1103	39	1		1	GGT5	22	24621533	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08	3802003	24621533	26683033	113	110607											
APOL6	80830	broad.mit.edu	37	chr22	36054692	36054692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgctcctctgtgtgaagaCgtggagctacaagacggaga	14	9	1	4	rs140682432		TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chr22:36054692C>T	uc003aoe.2	+	3	375	c.81C>T	c.(79-81)GAC>GAT	p.D27D	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	27					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						TGTGTGAAGACGTGGAGCTAC	0.438													T	36054692	C	T	36054692	2	4	199	1	0	0	0	0	0	0	0	1	810	535	19	1		1	APOL6	22	36054692	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	11433159	36054692	15249874	114	110608											
CLCN5	1184	broad.mit.edu	37	chrX	49854898	49854898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcagatgctcttgggCgggagggcatctatgatgcc	18	8	2	2			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chrX:49854898C>T	uc004dos.1	+	10	1908	c.1660C>T	c.(1660-1662)CGG>TGG	p.R554W	CLCN5_uc004dor.1_Missense_Mutation_p.R624W|CLCN5_uc004doq.1_Missense_Mutation_p.R624W|CLCN5_uc004dot.1_Missense_Mutation_p.R554W	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	554	Cytoplasmic (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					TGCTCTTGGGCGGGAGGGCAT	0.488													T	49854898	C	T	49854898	3	4	199	1	0	0	0	0	1	0	0	0	3466	759	27	1	1912	1	CLCN5	23	49854898	Missense_Mutation	SNP	C	TCGA-CG-5734-01A-11D-1600-08		49854898	105415662	115	110609											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912678	77912678	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggttttcagctggtggacTctcgggtccatctccctctg	11	12	4	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chrX:77912678T>A	uc004edc.1	-	2	1536	c.1240A>T	c.(1240-1242)AGT>TGT	p.S414C		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	414							nucleic acid binding|zinc ion binding			ovary(1)	1						GCTGGTGGACTCTCGGGTCCA	0.517													A	77912678	T	A	77912678	3	1	199	1	0	0	0	0	1	0	0	0	17588	1551	54	5	191	5	ZCCHC5	23	77912678	Missense_Mutation	SNP	T	TCGA-CG-5734-01A-11D-1600-08	28057780	77912678	77357882	116	110610											
BRWD3	254065	broad.mit.edu	37	chrX	79932138	79932138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcccatgagatggctaacCctggctttttctgtcatttt	7	11	2	1			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chrX:79932138C>T	uc004edt.2	-	41	5642	c.5379G>A	c.(5377-5379)AGG>AGA	p.R1793R	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.R1389R|BRWD3_uc004edp.2_Silent_p.R1622R|BRWD3_uc004edq.2_Silent_p.R1389R|BRWD3_uc010nmj.1_Silent_p.R1389R|BRWD3_uc004edr.2_Silent_p.R1463R|BRWD3_uc004eds.2_Silent_p.R1389R|BRWD3_uc004edu.2_Silent_p.R1463R|BRWD3_uc004edv.2_Silent_p.R1389R|BRWD3_uc004edw.2_Silent_p.R1389R|BRWD3_uc004edx.2_Silent_p.R1389R|BRWD3_uc004edy.2_Silent_p.R1389R|BRWD3_uc004edz.2_Silent_p.R1463R|BRWD3_uc004eea.2_Silent_p.R1463R|BRWD3_uc004eeb.2_Silent_p.R1389R|uc004edn.1_5'Flank	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1793										ovary(4)	4						GATGGCTAACCCTGGCTTTTT	0.368													T	79932138	C	T	79932138	2	4	199	1	0	0	0	0	0	0	0	1	1526	622	22	4		4	BRWD3	23	79932138	Silent	SNP	C	TCGA-CG-5734-01A-11D-1600-08	2019460	79932138	75338422	117	110611											
GPR112	139378	broad.mit.edu	37	chrX	135455081	135455081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctgaggataattgagcGtactggtcacaagatggagt	12	5	2	3			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chrX:135455081G>A	uc004ezu.1	+	15	7925	c.7634G>A	c.(7633-7635)CGT>CAT	p.R2545H	GPR112_uc010nsb.1_Missense_Mutation_p.R2340H	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2545	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATAATTGAGCGTACTGGTCAC	0.488													A	135455081	G	A	135455081	3	1	199	1	0	0	0	0	1	0	0	0	6629	1145	40	1	7680	1	GPR112	23	135455081	Missense_Mutation	SNP	G	TCGA-CG-5734-01A-11D-1600-08	55522943	135455081	19815479	118	110612											
G6PD	2539	broad.mit.edu	37	chrX	153760800	153760800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgtatctgttgccgtaGgtcaggtccagctccgactc	10	13	2	0			TCGA-CG-5734-01A-11D-1600-08	TCGA-CG-5734-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcf304f6-27f0-4e97-a070-78478cfb3f71	660f9d0f-0fc5-4eb7-b45e-561e05600357	g.chrX:153760800G>A	uc004fly.1	-	10	1382	c.1269C>T	c.(1267-1269)ACC>ACT	p.T423T	G6PD_uc004flx.1_Silent_p.T453T	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	423					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			ovary(4)	4	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)					TGTTGCCGTAGGTCAGGTCCA	0.622													A	153760800	G	A	153760800	2	1	199	1	0	0	0	0	0	0	0	1	6146	987	35	4		4	G6PD	23	153760800	Silent	SNP	G	TCGA-CG-5734-01A-11D-1600-08	18305719	153760800	1509760	119	110613											
CA6	765	broad.mit.edu	37	chr1	9009453	9009453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcaatatgacaggcTatgagacccaggcaggggag	16	8	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:9009453T>A	uc001apm.2	+	2	235	c.211T>A	c.(211-213)TAT>AAT	p.Y71N	CA6_uc009vmn.2_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	71					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TATGACAGGCTATGAGACCCA	0.607													A	9009453	T	A	9009453	3	1	200	1	0	0	0	0	1	0	0	0	2521	1522	53	5	217	5	CA6	1	9009453	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08		9009453	240241168	1	110614											
PADI3	51702	broad.mit.edu	37	chr1	17601163	17601163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacgtgactcgggaaccaCgcgacaggtctgtgagtggc	15	10	1	2	rs139324096	by1000genomes	TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:17601163C>T	uc001bai.2	+	11	1229	c.1189C>T	c.(1189-1191)CGC>TGC	p.R397C		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	397					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		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)	TCGGGAACCACGCGACAGGTC	0.602											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	17601163	C	T	17601163	3	4	200	1	0	0	0	0	1	0	0	0	11379	536	19	1	1231	1	PADI3	1	17601163	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	8591710	17601163	231649458	2	110615											
HSPG2	3339	broad.mit.edu	37	chr1	22178378	22178378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgtactgtcccgcatcGgcaggtgaggcctggaagat	14	11	0	3	rs145299929		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:22178378G>A	uc001bfj.2	-	54	6952	c.6912C>T	c.(6910-6912)GCC>GCT	p.A2304A	HSPG2_uc009vqd.2_Silent_p.A2305A	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2304	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	GTCCCGCATCGGCAGGTGAGG	0.657													A	22178378	G	A	22178378	2	1	200	1	0	0	0	0	0	0	0	1	7430	1103	39	1		1	HSPG2	1	22178378	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	4577215	22178378	227072243	3	110616											
MAN1C1	57134	broad.mit.edu	37	chr1	26104716	26104716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctccgggggcatgatcGcccttggcgccgaggatgcc	15	13	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:26104716G>A	uc001bkm.2	+	9	1708	c.1378G>A	c.(1378-1380)GCC>ACC	p.A460T	MAN1C1_uc009vry.1_Missense_Mutation_p.A280T|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	460	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGGCATGATCGCCCTTGGCGC	0.627													A	26104716	G	A	26104716	3	1	200	1	0	0	0	0	1	0	0	0	9213	1087	38	1	1412	1	MAN1C1	1	26104716	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	3926338	26104716	223145905	4	110617											
ARID1A	8289	broad.mit.edu	37	chr1	27101054	27101054	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagctgctactgagcgcCgaccagcaggcggcccccag	12	18	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:27101054C>T	uc001bmv.1	+	18	4709	c.4336C>T	c.(4336-4338)CGA>TGA	p.R1446*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1445*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R1063*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R292*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1446					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		TACTGAGCGCCGACCAGCAGG	0.587			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27101054	C	T	27101054	4	4	200	1	0	0	0	0	0	1	0	0	913	644	23	1	4406	1	ARID1A	1	27101054	Nonsense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	996338	27101054	222149567	5	110618											
KIAA0754	643314	broad.mit.edu	37	chr1	39876123	39876123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacttcaaaaagcaccatGgaaaagatggaaggaagtac	10	7	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:39876123G>A	uc009vvt.1	+	1	948	c.186G>A	c.(184-186)ATG>ATA	p.M62I	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	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)			AAAGCACCATGGAAAAGATGG	0.408													A	39876123	G	A	39876123	3	1	200	1	0	0	0	0	1	0	0	0	8192	1348	47	4	188	4	KIAA0754	1	39876123	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	12775069	39876123	209374498	6	110619											
TGFBR3	7049	broad.mit.edu	37	chr1	92184966	92184966	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgtgtgccattcatcTtggccttgcaggtaggatcc	11	10	2	0	rs138396794		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:92184966T>G	uc001doh.2	-	10	1935	c.1469A>C	c.(1468-1470)AAG>ACG	p.K490T	TGFBR3_uc009wde.2_Missense_Mutation_p.K267T|TGFBR3_uc010osy.1_Missense_Mutation_p.K448T|TGFBR3_uc001doi.2_Missense_Mutation_p.K489T|TGFBR3_uc001doj.2_Missense_Mutation_p.K489T	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	490	ZP.|Extracellular (Potential).				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			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCATTCATCTTGGCCTTGCA	0.552													G	92184966	T	G	92184966	3	3	200	1	0	0	0	0	1	0	0	0	15820	1609	56	5	1118	5	TGFBR3	1	92184966	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	52308843	92184966	157065655	7	110620											
PALMD	54873	broad.mit.edu	37	chr1	100152261	100152261	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagatccaagatcttgaaaAagctgaactgcaaatctcaa	7	8	2	4			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:100152261A>C	uc001dsg.2	+	4	724	c.281A>C	c.(280-282)AAA>ACA	p.K94T	PALMD_uc001dsf.2_Missense_Mutation_p.K94T	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	94	Potential.				regulation of cell shape	cytoplasm|membrane				ovary(2)|pancreas(1)	3		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCTTGAAAAAGCTGAACTG	0.368													C	100152261	A	C	100152261	3	2	200	1	0	0	0	0	1	0	0	0	11411	14	1	5	295	5	PALMD	1	100152261	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	7967295	100152261	149098360	8	110621											
FRRS1	391059	broad.mit.edu	37	chr1	100203814	100203814	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcttgttcccacaatctGaggcactgaactagaaaaat	6	10	2	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:100203814G>A	uc001dsh.1	-	7	1189	c.587C>T	c.(586-588)TCA>TTA	p.S196L		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	196					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			skin(1)	1		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)		CCCACAATCTGAGGCACTGAA	0.403													A	100203814	G	A	100203814	3	1	200	1	0	0	0	0	1	0	0	0	6060	1294	45	4	1337	4	FRRS1	1	100203814	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	51553	100203814	149046807	9	110622											
CDC14A	8556	broad.mit.edu	37	chr1	100949859	100949859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatacagaaaacaagcatCgttgtgggtccaaggagaca	10	7	0	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:100949859C>T	uc001dtg.3	+	11	1477	c.989C>T	c.(988-990)TCG>TTG	p.S330L	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.S272L|CDC14A_uc001dte.3_Missense_Mutation_p.S330L|CDC14A_uc001dtf.2_Missense_Mutation_p.S330L|CDC14A_uc009wed.1_Missense_Mutation_p.S37L|CDC14A_uc009wee.2_Missense_Mutation_p.S330L	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	330	B.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		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)		AAACAAGCATCGTTGTGGGTC	0.308													T	100949859	C	T	100949859	3	4	200	1	0	0	0	0	1	0	0	0	3056	893	31	1	1031	1	CDC14A	1	100949859	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	746045	100949859	148300762	10	110623											
TBX15	6913	broad.mit.edu	37	chr1	119428075	119428075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatggagataaaagatgAgaagaagccgaaggggatgg	17	3	0	4			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:119428075A>G	uc001ehl.1	-	8	1086	c.771T>C	c.(769-771)TCT>TCC	p.S257S	TBX15_uc009whj.1_Silent_p.S81S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	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)		ATAAAAGATGAGAAGAAGCCG	0.488													G	119428075	A	G	119428075	2	3	200	1	0	0	0	0	0	0	0	1	15649	291	11	3		3	TBX15	1	119428075	Silent	SNP	A	TCGA-D7-5577-01A-01D-1600-08	18478216	119428075	129822546	11	110624											
DUSP27	92235	broad.mit.edu	37	chr1	167095276	167095276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggcgagggcactgggaGcatgctcggggccagagtgc	21	9	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:167095276G>A	uc001geb.1	+	5	908	c.908G>A	c.(907-909)AGC>AAC	p.S303N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	303					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GGCACTGGGAGCATGCTCGGG	0.662													A	167095276	G	A	167095276	3	1	200	1	0	0	0	0	1	0	0	0	4824	971	34	2	926	2	DUSP27	1	167095276	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	47667201	167095276	82155345	12	110625											
ADCY10	55811	broad.mit.edu	37	chr1	167805735	167805735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttcatttttgttaaaaCgtggtcaaagaaattcaaga	7	5	4	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:167805735C>T	uc001ger.2	-	23	3419	c.3121G>A	c.(3121-3123)GTT>ATT	p.V1041I	ADCY10_uc009wvj.2_5'Flank|ADCY10_uc009wvk.2_Missense_Mutation_p.V949I|ADCY10_uc010plj.1_Missense_Mutation_p.V888I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1041					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TTTGTTAAAACGTGGTCAAAG	0.353													T	167805735	C	T	167805735	3	4	200	1	0	0	0	0	1	0	0	0	293	536	19	1	1755	1	ADCY10	1	167805735	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	710459	167805735	81444886	13	110626											
NAV1	89796	broad.mit.edu	37	chr1	201618005	201618005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggtcttcaagtccgGcagcgtggacagccgtgtcc	14	12	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:201618005G>T	uc001gwu.2	+	1	556	c.209G>T	c.(208-210)GGC>GTC	p.G70V		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	70					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TTCAAGTCCGGCAGCGTGGAC	0.453													T	201618005	G	T	201618005	3	4	200	1	0	0	0	0	1	0	0	0	10183	1203	42	5	211	5	NAV1	1	201618005	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	33812270	201618005	47632616	14	110627											
TSNAX	7257	broad.mit.edu	37	chr1	231678314	231678314	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtagcccaagagctAtcaggggaagatatgcatca	11	9	2	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:231678314A>T	uc001huw.2	+	4	482	c.324A>T	c.(322-324)CTA>CTT	p.L108L	TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_5'UTR|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_RNA	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	translin-associated factor X	108	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding				0		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CCCAAGAGCTATCAGGGGAAG	0.333													T	231678314	A	T	231678314	2	4	200	1	0	0	0	0	0	0	0	1	16628	436	16	5		5	TSNAX	1	231678314	Silent	SNP	A	TCGA-D7-5577-01A-01D-1600-08	30060309	231678314	17572307	15	110628											
SLC35F3	148641	broad.mit.edu	37	chr1	234367425	234367425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaactttttattcttcccGttgtactacgtggggcacgt	10	9	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:234367425G>A	uc001hwa.1	+	2	567	c.339G>A	c.(337-339)CCG>CCA	p.P113P	SLC35F3_uc001hvy.1_Silent_p.P182P	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	113	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TATTCTTCCCGTTGTACTACG	0.597													A	234367425	G	A	234367425	2	1	200	1	0	0	0	0	0	0	0	1	14590	1132	40	1		1	SLC35F3	1	234367425	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	2689111	234367425	14883196	16	110629											
CHRM3	1131	broad.mit.edu	37	chr1	240072304	240072304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgaacaccttttgtgAcagctgcatacccaaaacct	7	12	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr1:240072304A>G	uc001hyp.2	+	5	2332	c.1553A>G	c.(1552-1554)GAC>GGC	p.D518G		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	518	Extracellular (By similarity).				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			ovary(4)|skin(1)	5	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)	ACCTTTTGTGACAGCTGCATA	0.498													G	240072304	A	G	240072304	3	3	200	1	0	0	0	0	1	0	0	0	3378	275	10	3	1555	3	CHRM3	1	240072304	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	5704879	240072304	9178317	17	110630											
APOB	338	broad.mit.edu	37	chr2	21252873	21252873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgggtccctgtagggTttgtcttatgatagctacag	12	9	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:21252873T>C	uc002red.2	-	11	1495	c.1367A>G	c.(1366-1368)AAC>AGC	p.N456S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	456	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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCTGTAGGGTTTGTCTTATG	0.393													C	21252873	T	C	21252873	3	2	200	1	0	0	0	0	1	0	0	0	785	1725	60	3	12400	3	APOB	2	21252873	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08		21252873	221946500	18	110631											
MAT2A	4144	broad.mit.edu	37	chr2	85770889	85770889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcccaaaaagcttaaAtattgaaagtgttagccttt	8	6	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:85770889A>G	uc002spr.2	+	9	1305	c.1182A>G	c.(1180-1182)AAA>AAG	p.K394K	MAT2A_uc010fgk.2_Silent_p.K368K	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	394					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAAAGCTTAAATATTGAAAGT	0.483													G	85770889	A	G	85770889	2	3	200	1	0	0	0	0	0	0	0	1	9330	98	4	3		3	MAT2A	2	85770889	Silent	SNP	A	TCGA-D7-5577-01A-01D-1600-08	64518016	85770889	157428484	19	110632											
C2orf55	343990	broad.mit.edu	37	chr2	99443575	99443575	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactggtgccaggctgttgtCtgagatccgggcagagacgg	16	10	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:99443575C>T	uc002szf.1	-	6	892	c.598G>A	c.(598-600)GAC>AAC	p.D200N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	200											0						AGGCTGTTGTCTGAGATCCGG	0.572													T	99443575	C	T	99443575	3	4	200	1	0	0	0	0	1	0	0	0	2176	913	32	4	2310	4	C2orf55	2	99443575	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	13672686	99443575	143755798	20	110633											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547588	125547588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcacatctggagtcagGccaggctgccccggccactg	13	14	3	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:125547588G>A	uc002tno.2	+	18	3223	c.2859G>A	c.(2857-2859)AGG>AGA	p.R953R	CNTNAP5_uc010flu.2_Silent_p.R954R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	953	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGGAGTCAGGCCAGGCTGCC	0.547													A	125547588	G	A	125547588	2	1	200	1	0	0	0	0	0	0	0	1	3650	1194	42	2		2	CNTNAP5	2	125547588	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	26104013	125547588	117651785	21	110634											
POTEF	728378	broad.mit.edu	37	chr2	130832580	130832580	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaggtctcaaacatgAtctgggtcatcttctcgcgg	11	9	5	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:130832580A>C	uc010fmh.2	-	17	2865	c.2465T>G	c.(2464-2466)ATC>AGC	p.I822S		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	822	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5						CTCAAACATGATCTGGGTCAT	0.592													C	130832580	A	C	130832580	3	2	200	1	0	0	0	0	1	0	0	0	12265	333	12	5	766	5	POTEF	2	130832580	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	5284992	130832580	112366793	22	110635											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135926202	135926202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccgtgtcagacttcccaCcccctgctggccgggaattc	9	17	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:135926202C>A	uc002tuj.2	+	24	2822	c.2797C>A	c.(2797-2799)CCC>ACC	p.P933T	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.P940T|RAB3GAP1_uc010fng.2_Missense_Mutation_p.P758T|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	933						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGACTTCCCACCCCCTGCTGG	0.557													A	135926202	C	A	135926202	3	1	200	1	0	0	0	0	1	0	0	0	12935	507	18	5	2916	5	RAB3GAP1	2	135926202	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	5093622	135926202	107273171	23	110636											
TTN	7273	broad.mit.edu	37	chr2	179553493	179553493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctacaacagttttcTtagagacttcagctttaaga	5	8	4	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:179553493T>G	uc010zfg.1	-	123	28600	c.28376A>C	c.(28375-28377)AAG>ACG	p.K9459T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6120T|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10386							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGTTTTCTTAGAGACTTC	0.358													G	179553493	T	G	179553493	3	3	200	1	0	0	0	0	1	0	0	0	16732	1609	56	5	72369	5	TTN	2	179553493	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	43627291	179553493	63645880	24	110637											
TTN	7273	broad.mit.edu	37	chr2	179590293	179590293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacaaaaataggctgggCgccttctatggatgcttgta	12	8	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr2:179590293C>T	uc010zfg.1	-	68	17130	c.16906G>A	c.(16906-16908)GCC>ACC	p.A5636T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2297T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6563							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGGCTGGGCGCCTTCTATG	0.428													T	179590293	C	T	179590293	3	4	200	1	0	0	0	0	1	0	0	0	16732	768	27	1	84059	1	TTN	2	179590293	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	36800	179590293	63609080	25	110638											
FBLN2	2199	broad.mit.edu	37	chr3	13679190	13679190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttccgcattggccccgCgccagccttcacgggggaca	11	16	2	0	rs112412824		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:13679190C>T	uc011avb.1	+	17	3451	c.3326C>T	c.(3325-3327)GCG>GTG	p.A1109V	FBLN2_uc011auz.1_Missense_Mutation_p.A1135V|FBLN2_uc011ava.1_Missense_Mutation_p.A1156V|FBLN2_uc011avc.1_Missense_Mutation_p.A1156V	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATTGGCCCCGCGCCAGCCTTC	0.622													T	13679190	C	T	13679190	3	4	200	1	0	0	0	0	1	0	0	0	5699	768	27	1	2223	1	FBLN2	3	13679190	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08		13679190	184343240	26	110639											
ZNF660	285349	broad.mit.edu	37	chr3	44636501	44636501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttcacactggagagaaAccctataaatgtaatgaatg	9	6	1	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:44636501A>C	uc003cnl.1	+	3	1149	c.816A>C	c.(814-816)AAA>AAC	p.K272N		NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CTGGAGAGAAACCCTATAAAT	0.388													C	44636501	A	C	44636501	3	2	200	1	0	0	0	0	1	0	0	0	18067	40	2	5	818	5	ZNF660	3	44636501	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	30957311	44636501	153385929	27	110640											
GTF2E1	2960	broad.mit.edu	37	chr3	120495484	120495484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagcactgtccaagggGcatatggttctgaagatatg	13	6	1	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:120495484G>A	uc003edz.3	+	4	979	c.865G>A	c.(865-867)GCA>ACA	p.A289T		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	289					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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		TGTCCAAGGGGCATATGGTTC	0.428													A	120495484	G	A	120495484	3	1	200	1	0	0	0	0	1	0	0	0	6856	1203	42	2	875	2	GTF2E1	3	120495484	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	75858983	120495484	77526946	28	110641											
MME	4311	broad.mit.edu	37	chr3	154866382	154866382	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagaacataattcaaaAtttgaaattcagccaaagta	5	7	2	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:154866382A>T	uc010hvr.1	+	16	1752	c.1541A>T	c.(1540-1542)AAT>ATT	p.N514I	MME_uc003fab.1_Missense_Mutation_p.N514I|MME_uc003fac.1_Missense_Mutation_p.N514I|MME_uc003fad.1_Missense_Mutation_p.N514I|MME_uc003fae.1_Missense_Mutation_p.N514I	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	514	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATAATTCAAAATTTGAAATTC	0.313													T	154866382	A	T	154866382	3	4	200	1	0	0	0	0	1	0	0	0	9645	101	4	5	1599	5	MME	3	154866382	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	34370898	154866382	43156048	29	110642											
TIPARP	25976	broad.mit.edu	37	chr3	156395626	156395626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taagaaaaaggatcagaaaaGattgggaactggaaccctga	11	5	1	4			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:156395626G>A	uc003fav.2	+	2	388	c.140G>A	c.(139-141)AGA>AAA	p.R47K	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Missense_Mutation_p.R47K	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	47							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATCAGAAAAGATTGGGAACT	0.428													A	156395626	G	A	156395626	3	1	200	1	0	0	0	0	1	0	0	0	15921	942	33	4	142	4	TIPARP	3	156395626	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	1529244	156395626	41626804	30	110643											
SKIL	6498	broad.mit.edu	37	chr3	170102413	170102413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctcacaaagacagaggCaagtaagtccatatcaagac	9	9	2	4			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:170102413C>T	uc003fgu.2	+	4	2001	c.1289C>T	c.(1288-1290)GCA>GTA	p.A430V	SKIL_uc011bps.1_Missense_Mutation_p.A410V|SKIL_uc003fgv.2_Missense_Mutation_p.A430V|SKIL_uc003fgw.2_Missense_Mutation_p.A430V	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	430					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|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			ovary(2)|skin(1)	3	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)			AAGACAGAGGCAAGTAAGTCC	0.413													T	170102413	C	T	170102413	3	4	200	1	0	0	0	0	1	0	0	0	14358	710	25	2	1299	2	SKIL	3	170102413	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	13706787	170102413	27920017	31	110644											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	8	7	0	4	rs121913287		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:178916876G>A	uc003fjk.2	+	2	420	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		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.R88Q(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	200	1	0	0	0	0	1	0	0	0	11913	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	8814463	178916876	19105554	32	110645											
PIK3CA	5290	broad.mit.edu	37	chr3	178952074	178952074	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtatttcatgaaacaaatGaatgatgcacatcatggtgg	10	5	2	3	rs121913283		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:178952074G>T	uc003fjk.2	+	21	3286	c.3129G>T	c.(3127-3129)ATG>ATT	p.M1043I		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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.M1043I(33)|p.M1043V(14)|p.M1043T(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TGAAACAAATGAATGATGCAC	0.368		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178952074	G	T	178952074	3	4	200	1	0	0	0	0	1	0	0	0	11913	1290	45	5	3207	5	PIK3CA	3	178952074	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	35198	178952074	19070356	33	110646											
MUC20	200958	broad.mit.edu	37	chr3	195453120	195453120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacgtcaaagtctcaggagCagctccggtctccatagagg	11	11	3	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr3:195453120C>A	uc010hzo.2	+	3	1259	c.1133C>A	c.(1132-1134)GCA>GAA	p.A378E	MUC20_uc010hzp.2_Missense_Mutation_p.A343E|MUC20_uc011bte.1_RNA	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	549	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	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)		GTCTCAGGAGCAGCTCCGGTC	0.562													A	195453120	C	A	195453120	3	1	200	1	0	0	0	0	1	0	0	0	9976	710	25	5	1143	5	MUC20	3	195453120	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	16501046	195453120	2569310	34	110647											
MSX1	4487	broad.mit.edu	37	chr4	4864504	4864504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgcccttcaccaccgcGcagctgctggcgctggagcg	14	17	1	0	rs140353960		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr4:4864504G>A	uc003gif.2	+	2	781	c.546G>A	c.(544-546)GCG>GCA	p.A182A		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	176	Homeobox.				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				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCACCACCGCGCAGCTGCTGG	0.647													A	4864504	G	A	4864504	2	1	200	1	0	0	0	0	0	0	0	1	9895	1074	38	1		1	MSX1	4	4864504	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08		4864504	186289772	35	110648											
MAN2B2	23324	broad.mit.edu	37	chr4	6602463	6602463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgtcacagatgaggcgGgccacccagtgccctcgcag	13	16	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr4:6602463G>A	uc003gjf.1	+	10	1555	c.1519G>A	c.(1519-1521)GGC>AGC	p.G507S	MAN2B2_uc003gje.1_Missense_Mutation_p.G507S|MAN2B2_uc011bwf.1_Missense_Mutation_p.G456S	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	507					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						AGATGAGGCGGGCCACCCAGT	0.597													A	6602463	G	A	6602463	3	1	200	1	0	0	0	0	1	0	0	0	9217	1232	43	4	1557	4	MAN2B2	4	6602463	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	1737959	6602463	184551813	36	110649											
ATP8A1	10396	broad.mit.edu	37	chr4	42414995	42414995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcacttcagactgtgaaaCgattccattttcatcttgag	6	9	4	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr4:42414995C>T	uc003gwr.2	-	37	3665	c.3433G>A	c.(3433-3435)GTT>ATT	p.V1145I	ATP8A1_uc003gwq.2_Missense_Mutation_p.V371I|ATP8A1_uc003gws.2_Missense_Mutation_p.V1130I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1145	Cytoplasmic (Potential).				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			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	GACTGTGAAACGATTCCATTT	0.438													T	42414995	C	T	42414995	3	4	200	1	0	0	0	0	1	0	0	0	1192	536	19	1	65	1	ATP8A1	4	42414995	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	35812532	42414995	148739281	37	110650											
SYNPO2	171024	broad.mit.edu	37	chr4	119978661	119978661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttactctagtaaaccaaccGatggactagagaaagcaaac	8	9	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr4:119978661G>A	uc010inb.2	+	5	3554	c.3358G>A	c.(3358-3360)GAT>AAT	p.D1120N	SYNPO2_uc011cgh.1_Silent_p.P121P|SYNPO2_uc010inc.2_Missense_Mutation_p.D990N	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TAAACCAACCGATGGACTAGA	0.488													A	119978661	G	A	119978661	3	1	200	1	0	0	0	0	1	0	0	0	15454	1058	37	1	3488	1	SYNPO2	4	119978661	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	77563666	119978661	71175615	38	110651											
FHDC1	85462	broad.mit.edu	37	chr4	153897817	153897817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaagggcctccctccGtcggaaggactccagtcgga	15	12	0	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr4:153897817G>A	uc003inf.2	+	11	3449	c.3374G>A	c.(3373-3375)CGT>CAT	p.R1125H		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1125					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GCCTCCCTCCGTCGGAAGGAC	0.657													A	153897817	G	A	153897817	3	1	200	1	0	0	0	0	1	0	0	0	5876	1145	40	1	3416	1	FHDC1	4	153897817	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	33919156	153897817	37256459	39	110652											
AGA	175	broad.mit.edu	37	chr4	178358635	178358635	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaagataccaggtggtttGtagggtccgcagtattttga	12	5	0	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr4:178358635G>T	uc003iuu.1	-	5	608	c.546C>A	c.(544-546)TAC>TAA	p.Y182*	AGA_uc010irt.1_5'Flank|AGA_uc003iuv.1_Nonsense_Mutation_p.Y86*|AGA_uc003iuw.2_Nonsense_Mutation_p.Y86*	NM_000027	NP_000018	P20933	ASPG_HUMAN	aspartylglucosaminidase precursor	182					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGGTGGTTTGTAGGGTCCGC	0.343													T	178358635	G	T	178358635	4	4	200	1	0	0	0	0	0	1	0	0	365	1372	48	5	514	5	AGA	4	178358635	Nonsense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	24460818	178358635	12795641	40	110653											
KIAA0947	23379	broad.mit.edu	37	chr5	5463516	5463516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagatgcaggcaggcaaaccGatggtggggaagaagacctg	16	8	0	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:5463516G>T	uc003jdm.3	+	13	4291	c.4069G>T	c.(4069-4071)GAT>TAT	p.D1357Y		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1357										ovary(1)|central_nervous_system(1)	2						CAGGCAAACCGATGGTGGGGA	0.562													T	5463516	G	T	5463516	3	4	200	1	0	0	0	0	1	0	0	0	8202	1058	37	5	4119	5	KIAA0947	5	5463516	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08		5463516	175451744	41	110654											
CTNND2	1501	broad.mit.edu	37	chr5	11199625	11199625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcaccagtgctgggatgCcaccacagtttttcagggca	10	13	2	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:11199625C>A	uc003jfa.1	-	11	2055	c.1910G>T	c.(1909-1911)GGC>GTC	p.G637V	CTNND2_uc010itt.2_Missense_Mutation_p.G546V|CTNND2_uc011cmy.1_Missense_Mutation_p.G300V|CTNND2_uc011cmz.1_Missense_Mutation_p.G204V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G204V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	637	ARM 4.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TGCTGGGATGCCACCACAGTT	0.478													A	11199625	C	A	11199625	3	1	200	1	0	0	0	0	1	0	0	0	4020	739	26	5	1815	5	CTNND2	5	11199625	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	5736109	11199625	169715635	42	110655											
CDH12	1010	broad.mit.edu	37	chr5	21755818	21755818	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatcagagtcacatctacaGactcgaatagtcattgtgtt	7	10	4	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:21755818G>T	uc010iuc.2	-	11	2225	c.1767C>A	c.(1765-1767)GTC>GTA	p.V589V	CDH12_uc011cno.1_Silent_p.V549V|CDH12_uc003jgk.2_Silent_p.V589V|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	589	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CACATCTACAGACTCGAATAG	0.458										HNSCC(59;0.17)			T	21755818	G	T	21755818	2	4	200	1	0	0	0	0	0	0	0	1	3098	929	33	5		5	CDH12	5	21755818	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	10556193	21755818	159159442	43	110656											
NNT	23530	broad.mit.edu	37	chr5	43656015	43656015	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcacagtttagtgggTttggcagctgtacttacttg	11	7	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:43656015T>G	uc003joe.2	+	15	2388	c.2133T>G	c.(2131-2133)GGT>GGG	p.G711G	NNT_uc003jof.2_Silent_p.G711G	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	711	Helical; (Potential).				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			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTTTAGTGGGTTTGGCAGCTG	0.393													G	43656015	T	G	43656015	2	3	200	1	0	0	0	0	0	0	0	1	10510	1712	60	5		5	NNT	5	43656015	Silent	SNP	T	TCGA-D7-5577-01A-01D-1600-08	21900197	43656015	137259245	44	110657											
TMEM171	134285	broad.mit.edu	37	chr5	72424237	72424237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgactcggtaataatatttCcaccccctccaccaccttac	4	16	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:72424237C>T	uc003kcm.2	+	3	865	c.661C>T	c.(661-663)CCA>TCA	p.P221S	TMEM171_uc003kcn.3_Missense_Mutation_p.P221S	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	221						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AATAATATTTCCACCCCCTCC	0.403													T	72424237	C	T	72424237	3	4	200	1	0	0	0	0	1	0	0	0	16085	855	30	4	667	4	TMEM171	5	72424237	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	28768222	72424237	108491023	45	110658											
PCDHA2	56146	broad.mit.edu	37	chr5	140175138	140175138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctttgtctctcgtgctgGggaaatcgctggacagagag	13	8	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:140175138G>A	uc003lhd.2	+	1	695	c.589G>A	c.(589-591)GGG>AGG	p.G197R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.G197R|PCDHA2_uc011czy.1_Missense_Mutation_p.G197R	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	197	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGTGCTGGGGAAATCGCT	0.458													A	140175138	G	A	140175138	3	1	200	1	0	0	0	0	1	0	0	0	11524	1232	43	4	591	4	PCDHA2	5	140175138	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	67750901	140175138	40740122	46	110659											
PCDHA4	56144	broad.mit.edu	37	chr5	140188221	140188221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctgcgtgggacgcggaCgcgcaggagaacgcgctggt	19	10	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:140188221C>T	uc003lhi.2	+	1	1550	c.1449C>T	c.(1447-1449)GAC>GAT	p.D483D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D483D|PCDHA4_uc011daa.1_Silent_p.D483D	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	483	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGCGGACGCGCAGGAGA	0.657													T	140188221	C	T	140188221	2	4	200	1	0	0	0	0	0	0	0	1	11526	535	19	1		1	PCDHA4	5	140188221	Silent	SNP	C	TCGA-D7-5577-01A-01D-1600-08	13083	140188221	40727039	47	110660											
ITK	3702	broad.mit.edu	37	chr5	156667170	156667170	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtgttcgattccatccCtcttctcatcaactatcacc	4	14	4	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:156667170C>G	uc003lwo.1	+	10	1032	c.950C>G	c.(949-951)CCT>CGT	p.P317R		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	317	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTCCATCCCTCTTCTCATC	0.318			T	SYK	peripheral T-cell lymphoma								G	156667170	C	G	156667170	3	3	200	1	0	0	0	0	1	0	0	0	7909	681	24	5	988	5	ITK	5	156667170	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	16478949	156667170	24248090	48	110661											
GABRG2	2566	broad.mit.edu	37	chr5	161522503	161522503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtttctctttacagtgAagccaacgttaattcacaca	5	10	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr5:161522503A>C	uc003lyz.3	+	3	620	c.262A>C	c.(262-264)AAG>CAG	p.K88Q	GABRG2_uc010jjc.2_Missense_Mutation_p.K88Q|GABRG2_uc003lyy.3_Missense_Mutation_p.K88Q|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	88	Extracellular (Probable).				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			ovary(4)|skin(1)	5	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)		CTTTACAGTGAAGCCAACGTT	0.318													C	161522503	A	C	161522503	3	2	200	1	0	0	0	0	1	0	0	0	6172	247	9	5	272	5	GABRG2	5	161522503	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	4855333	161522503	19392757	49	110662											
NCR2	9436	broad.mit.edu	37	chr6	41304116	41304116	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtagaatctaccgcccttCtgacaactctgtctctaagt	7	12	4	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr6:41304116C>A	uc003oqh.2	+	2	431	c.344C>A	c.(343-345)TCT>TAT	p.S115Y	NCR2_uc003oqi.2_Missense_Mutation_p.S115Y|NCR2_uc003oqj.2_Missense_Mutation_p.S115Y	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	115	Extracellular (Potential).|Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TACCGCCCTTCTGACAACTCT	0.522													A	41304116	C	A	41304116	3	1	200	1	0	0	0	0	1	0	0	0	10238	913	32	5	350	5	NCR2	6	41304116	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08		41304116	129810951	50	110663											
HSP90AB1	3326	broad.mit.edu	37	chr6	44219805	44219805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacggggcttcgaggtggTatatatgaccgagcccattg	14	8	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr6:44219805T>C	uc003oxa.1	+	10	1616	c.1532T>C	c.(1531-1533)GTA>GCA	p.V511A	HSP90AB1_uc011dvr.1_Missense_Mutation_p.V501A|HSP90AB1_uc003oxb.1_Missense_Mutation_p.V511A|HSP90AB1_uc011dvs.1_Missense_Mutation_p.V331A|HSP90AB1_uc003oxc.1_Missense_Mutation_p.V149A	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	511					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			lung(3)|breast(1)	4	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)			TTCGAGGTGGTATATATGACC	0.517													C	44219805	T	C	44219805	3	2	200	1	0	0	0	0	1	0	0	0	7402	1638	57	3	1566	3	HSP90AB1	6	44219805	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	2915689	44219805	126895262	51	110664											
ZNF292	23036	broad.mit.edu	37	chr6	87971005	87971005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaaaaagctgaaccagCatcagcagctgagttaagta	10	7	1	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr6:87971005C>T	uc003plm.3	+	8	7699	c.7658C>T	c.(7657-7659)GCA>GTA	p.A2553V		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		GCTGAACCAGCATCAGCAGCT	0.378													T	87971005	C	T	87971005	3	4	200	1	0	0	0	0	1	0	0	0	17823	710	25	2	7688	2	ZNF292	6	87971005	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	43751200	87971005	83144062	52	110665											
MDN1	23195	broad.mit.edu	37	chr6	90459388	90459388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccaacagcctattcagCgcctctaacacatcagtagg	6	14	4	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr6:90459388C>T	uc003pnn.1	-	25	3605	c.3489G>A	c.(3487-3489)GCG>GCA	p.A1163A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1163					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		GCCTATTCAGCGCCTCTAACA	0.398													T	90459388	C	T	90459388	2	4	200	1	0	0	0	0	0	0	0	1	9415	755	27	1		1	MDN1	6	90459388	Silent	SNP	C	TCGA-D7-5577-01A-01D-1600-08	2488383	90459388	80655679	53	110666											
C6orf204	387119	broad.mit.edu	37	chr6	118887330	118887330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaatgtttgcatgaggcTtgtactccattttgagccat	8	10	0	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr6:118887330T>G	uc003pxz.1	-	3	970	c.382A>C	c.(382-384)AGC>CGC	p.S128R	C6orf204_uc003pya.1_Missense_Mutation_p.S131R|C6orf204_uc003pyb.2_Missense_Mutation_p.S128R|C6orf204_uc011ebj.1_Missense_Mutation_p.S26R|C6orf204_uc003pyc.2_Missense_Mutation_p.S131R|C6orf204_uc011ebl.1_Missense_Mutation_p.S26R	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	128						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TGCATGAGGCTTGTACTCCAT	0.473													G	118887330	T	G	118887330	3	3	200	1	0	0	0	0	1	0	0	0	2353	1609	56	5	2133	5	C6orf204	6	118887330	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	28427942	118887330	52227737	54	110667											
RNF217	154214	broad.mit.edu	37	chr6	125397843	125397843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtgaccatatgacctGctcacaatgtaacactaatt	7	9	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr6:125397843G>T	uc003pzs.2	+	6	784	c.446G>T	c.(445-447)TGC>TTC	p.C149F	RNF217_uc003pzr.2_Missense_Mutation_p.C206F|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	149	RING-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CATATGACCTGCTCACAATGT	0.423													T	125397843	G	T	125397843	3	4	200	1	0	0	0	0	1	0	0	0	13481	1319	46	5	460	5	RNF217	6	125397843	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	6510513	125397843	45717224	55	110668											
MPP6	51678	broad.mit.edu	37	chr7	24681385	24681385	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgtcagtgacaataaCttggaattagtcaatgaaat	9	5	2	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr7:24681385C>G	uc003swx.2	+	4	467	c.168C>G	c.(166-168)AAC>AAG	p.N56K	MPP6_uc003swy.2_Missense_Mutation_p.N56K	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	56	L27 2.				protein complex assembly		protein binding				0						GTGACAATAACTTGGAATTAG	0.338													G	24681385	C	G	24681385	3	3	200	1	0	0	0	0	1	0	0	0	9738	564	20	5	174	5	MPP6	7	24681385	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08		24681385	134457278	56	110669											
PILRA	29992	broad.mit.edu	37	chr7	99997468	99997468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctcacccagagcacctCccagccaccgtcccctcaag	5	23	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr7:99997468C>T	uc003uuo.1	+	7	1062	c.850C>T	c.(850-852)CCC>TCC	p.P284S	PILRA_uc011kjo.1_Missense_Mutation_p.S198F|PILRA_uc003uup.1_Missense_Mutation_p.P211S|PILRA_uc003uuq.1_3'UTR	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	284	Cytoplasmic (Potential).				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGAGCACCTCCCAGCCACCG	0.562													T	99997468	C	T	99997468	3	4	200	1	0	0	0	0	1	0	0	0	11925	855	30	4	876	4	PILRA	7	99997468	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	75316083	99997468	59141195	57	110670											
LHFPL3	375612	broad.mit.edu	37	chr7	104377336	104377336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagacagcttgatggcagaGgaactgaaggcagaaaacaa	12	7	0	5			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr7:104377336G>T	uc003vce.2	+	2	784	c.660G>T	c.(658-660)GAG>GAT	p.E220D	LHFPL3_uc003vcf.2_Missense_Mutation_p.E220D	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	206						integral to membrane					0						TGATGGCAGAGGAACTGAAGG	0.433													T	104377336	G	T	104377336	3	4	200	1	0	0	0	0	1	0	0	0	8766	991	35	5	666	5	LHFPL3	7	104377336	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	4379868	104377336	54761327	58	110671											
ASB15	142685	broad.mit.edu	37	chr7	123276961	123276970	+	Frame_Shift_Del	DEL	CTACCACCAG	CTACCACCAG	-													cctcagtggagaagcttcctCtaccaccagctattcaaaga					rs145871395		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr7:123276960_123276969TCTACCACCAG>T	uc003vku.1	+	11	1984_1993	c.1692_1701TCTACCACCAG>T	c.(1690-1701)cctctaccaccafs	p.P564fs	ASB15_uc003vkw.1_Frame_Shift_Del_p.P564fs	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	564	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGAAGCTTCCTCTACCACCAGCTATTCAAA	0.348													-	123276970	CTACCACCAG	-	123276961	7	5	200	1	0	1	0	1	0	0	0	0	1019	912	32	0	1727	0	ASB15	7	123276961	Frame_Shift_Del	DEL	CTACCACCAG	TCGA-D7-5577-01A-01D-1600-08	18899625	123276961	35861702	59	110672											
CSMD1	64478	broad.mit.edu	37	chr8	2820858	2820858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttatgctggagccccagcGgaaatcacttccctccactg	8	15	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:2820858G>A	uc011kwk.1	-	60	9733	c.9343C>T	c.(9343-9345)CGC>TGC	p.R3115C	CSMD1_uc011kwj.1_Missense_Mutation_p.R2444C|CSMD1_uc010lrg.2_Missense_Mutation_p.R1006C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3115	Sushi 25.|Extracellular (Potential).					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)		GAGCCCCAGCGGAAATCACTT	0.557													A	2820858	G	A	2820858	3	1	200	1	0	0	0	0	1	0	0	0	3944	1116	39	1	1398	1	CSMD1	8	2820858	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08		2820858	143543164	60	110673											
BLK	640	broad.mit.edu	37	chr8	11403589	11403589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccaccttactcctccacCgcccgatgaacacctggatg	6	18	0	1	rs140188373		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:11403589C>T	uc003wty.2	+	3	733	c.152C>T	c.(151-153)CCG>CTG	p.P51L	BLK_uc003wtz.2_5'UTR	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	51					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ACTCCTCCACCGCCCGATGAA	0.552													T	11403589	C	T	11403589	3	4	200	1	0	0	0	0	1	0	0	0	1444	652	23	1	158	1	BLK	8	11403589	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	8582731	11403589	134960433	61	110674											
C8orf58	541565	broad.mit.edu	37	chr8	22459490	22459490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctgtgcataggatccCggcgaggaggagtcgacccg	14	13	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:22459490C>T	uc003xce.2	+	4	775	c.663C>T	c.(661-663)CCC>CCT	p.P221P	C8orf58_uc011kzl.1_Silent_p.P221P|C8orf58_uc003xcf.2_Silent_p.P221P|KIAA1967_uc003xch.2_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	221										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CATAGGATCCCGGCGAGGAGG	0.637													T	22459490	C	T	22459490	2	4	200	1	0	0	0	0	0	0	0	1	2433	639	23	1		1	C8orf58	8	22459490	Silent	SNP	C	TCGA-D7-5577-01A-01D-1600-08	11055901	22459490	123904532	62	110675											
TACC1	6867	broad.mit.edu	37	chr8	38704287	38704287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctccatgctggactcCgcaaagagcagatgaaggtg	12	11	1	3	rs149836912		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:38704287C>T	uc010lwp.2	+	12	2678	c.2299C>T	c.(2299-2301)CGC>TGC	p.R767C	TACC1_uc003xma.2_Missense_Mutation_p.R205C|TACC1_uc003xlz.2_Missense_Mutation_p.R572C|TACC1_uc003xmc.3_Missense_Mutation_p.R571C|TACC1_uc011lbz.1_Missense_Mutation_p.R754C|TACC1_uc003xmb.3_Missense_Mutation_p.R693C|TACC1_uc003xmf.3_Missense_Mutation_p.R357C|TACC1_uc011lca.1_Missense_Mutation_p.R750C|TACC1_uc011lcb.1_Missense_Mutation_p.R543C|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.R584C|TACC1_uc010lwq.2_Missense_Mutation_p.R583C	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	767	|Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		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)			TGCTGGACTCCGCAAAGAGCA	0.507													T	38704287	C	T	38704287	3	4	200	1	0	0	0	0	1	0	0	0	15498	652	23	1	2345	1	TACC1	8	38704287	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	16244797	38704287	107659735	63	110676											
IMPAD1	54928	broad.mit.edu	37	chr8	57905926	57905926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgccgccgcggactgcGgccagcactgacacagccag	13	17	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:57905926G>A	uc003xte.3	-	1	502	c.219C>T	c.(217-219)GCC>GCT	p.A73A		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	73						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CGCGGACTGCGGCCAGCACTG	0.572													A	57905926	G	A	57905926	2	1	200	1	0	0	0	0	0	0	0	1	7725	1103	39	1		1	IMPAD1	8	57905926	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	19201639	57905926	88458096	64	110677											
PREX2	80243	broad.mit.edu	37	chr8	69046341	69046341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttttctgccagactcttGtggccactgtctgtgccttc	10	12	3	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:69046341G>T	uc003xxv.1	+	32	3841	c.3814G>T	c.(3814-3816)GTG>TTG	p.V1272L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1272					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CCAGACTCTTGTGGCCACTGT	0.473													T	69046341	G	T	69046341	3	4	200	1	0	0	0	0	1	0	0	0	12477	1377	48	5	4169	5	PREX2	8	69046341	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	11140415	69046341	77317681	65	110678											
PDP1	54704	broad.mit.edu	37	chr8	94935067	94935067	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgatcctaattcttttctCaactacctggtgcttcgagt	8	10	2	1	rs140224111		TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:94935067C>T	uc003yge.2	+	2	1049	c.780C>T	c.(778-780)CTC>CTT	p.L260L	PDP1_uc003ygf.2_Silent_p.L285L|PDP1_uc010max.2_Silent_p.L285L|PDP1_uc011lgm.1_Silent_p.L260L|PDP1_uc011lgn.1_Silent_p.L319L	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	260					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						ATTCTTTTCTCAACTACCTGG	0.473													T	94935067	C	T	94935067	2	4	200	1	0	0	0	0	0	0	0	1	11685	813	29	4		4	PDP1	8	94935067	Silent	SNP	C	TCGA-D7-5577-01A-01D-1600-08	25888726	94935067	51428955	66	110679											
DCAF13	25879	broad.mit.edu	37	chr8	104427608	104427608	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcggaagtcgcctgtggGaggaggtggcggtgggcgga	22	6	0	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:104427608G>A	uc003yln.2	+	1	667	c.390G>A	c.(388-390)GGG>GGA	p.G130G	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						TCGCCTGTGGGAGGAGGTGGC	0.627													A	104427608	G	A	104427608	2	1	200	1	0	0	0	0	0	0	0	1	4266	1161	41	4		4	DCAF13	8	104427608	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	9492541	104427608	41936414	67	110680											
TRPS1	7227	broad.mit.edu	37	chr8	116617160	116617160	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcagaatttacagcggaAatacttggtgttcccttggc	10	8	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr8:116617160A>C	uc003ynz.2	-	3	1456	c.997T>G	c.(997-999)TTC>GTC	p.F333V	TRPS1_uc011lhy.1_Missense_Mutation_p.F337V|TRPS1_uc003yny.2_Missense_Mutation_p.F346V|TRPS1_uc010mcy.2_Missense_Mutation_p.F333V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	333	C2H2-type 2; atypical.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TTACAGCGGAAATACTTGGTG	0.408									Langer-Giedion_syndrome				C	116617160	A	C	116617160	3	2	200	1	0	0	0	0	1	0	0	0	16590	14	1	5	2864	5	TRPS1	8	116617160	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	12189552	116617160	29746862	68	110681											
VPS13A	23230	broad.mit.edu	37	chr9	79933352	79933352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaattggtacccaaaggcGagatgataaaaatgaacatt	9	6	0	4			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr9:79933352G>A	uc004akr.2	+	41	5418	c.5158G>A	c.(5158-5160)GAG>AAG	p.E1720K	VPS13A_uc004akp.3_Missense_Mutation_p.E1720K|VPS13A_uc004akq.3_Missense_Mutation_p.E1720K|VPS13A_uc004aks.2_Missense_Mutation_p.E1681K|VPS13A_uc004akt.2_Missense_Mutation_p.E60K|VPS13A_uc010mpo.1_Missense_Mutation_p.E316K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1720					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ACCCAAAGGCGAGATGATAAA	0.353													A	79933352	G	A	79933352	3	1	200	1	0	0	0	0	1	0	0	0	17186	1059	37	1	5320	1	VPS13A	9	79933352	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08		79933352	61280079	69	110682											
NR4A3	8013	broad.mit.edu	37	chr9	102590479	102590479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagatcacggctacagccaCcacgtccctgcccagcatca	8	17	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr9:102590479C>A	uc004baf.1	+	3	884	c.155C>A	c.(154-156)ACC>AAC	p.T52N	NR4A3_uc004bae.2_Missense_Mutation_p.T52N|NR4A3_uc004bag.1_Missense_Mutation_p.T52N|NR4A3_uc004bai.2_Missense_Mutation_p.T63N	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	52					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCTACAGCCACCACGTCCCTG	0.562			T	EWSR1	extraskeletal myxoid chondrosarcoma								A	102590479	C	A	102590479	3	1	200	1	0	0	0	0	1	0	0	0	10634	507	18	5	194	5	NR4A3	9	102590479	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	22657127	102590479	38622952	70	110683											
ZBTB26	57684	broad.mit.edu	37	chr9	125681219	125681219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgagaaaaggttttcCcacagattttacactggaaa	7	8	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr9:125681219C>T	uc004bnj.2	-	2	1207	c.995G>A	c.(994-996)GGG>GAG	p.G332E	ZBTB26_uc004bnk.2_Missense_Mutation_p.G332E	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	332	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGGTTTTCCCACAGATTTT	0.418													T	125681219	C	T	125681219	3	4	200	1	0	0	0	0	1	0	0	0	17530	623	22	4	334	4	ZBTB26	9	125681219	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	23090740	125681219	15532212	71	110684											
STAM	8027	broad.mit.edu	37	chr10	17735260	17735260	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcccagctcttgtagccAaggatcctggtactgtggct	11	12	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr10:17735260A>C	uc001ipj.1	+	6	700	c.484A>C	c.(484-486)AAG>CAG	p.K162Q	STAM_uc010qcf.1_Missense_Mutation_p.K51Q|STAM_uc009xjw.1_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	162					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	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						TCTTGTAGCCAAGGATCCTGG	0.408													C	17735260	A	C	17735260	3	2	200	1	0	0	0	0	1	0	0	0	15247	131	5	5	506	5	STAM	10	17735260	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08		17735260	117799487	72	110685											
MYO3A	53904	broad.mit.edu	37	chr10	26482178	26482178	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatattgagacccccaagaCgaccccggaaacccaaaaca	6	14	0	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr10:26482178C>T	uc001isn.2	+	32	4843	c.4483C>T	c.(4483-4485)CGA>TGA	p.R1495*	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1495					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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						ACCCCCAAGACGACCCCGGAA	0.378													T	26482178	C	T	26482178	4	4	200	1	0	0	0	0	0	1	0	0	10076	528	19	1	4601	1	MYO3A	10	26482178	Nonsense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	8746918	26482178	109052569	73	110686											
KIAA0913	23053	broad.mit.edu	37	chr10	75556659	75556659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcacgggggcccatctgCcccaggggccctgcaaccac	12	17	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr10:75556659C>T	uc009xrl.2	+	16	3178	c.3146C>T	c.(3145-3147)GCC>GTC	p.A1049V	KIAA0913_uc001jve.2_Missense_Mutation_p.A1054V|KIAA0913_uc001jvf.2_Missense_Mutation_p.A1049V|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A484V|KIAA0913_uc010qkr.1_Missense_Mutation_p.A472V|KIAA0913_uc001jvj.2_Missense_Mutation_p.A472V|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1049							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGCCCATCTGCCCCAGGGGCC	0.632													T	75556659	C	T	75556659	3	4	200	1	0	0	0	0	1	0	0	0	8200	739	26	2	3223	2	KIAA0913	10	75556659	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	49074481	75556659	59978088	74	110687											
PTEN	5728	broad.mit.edu	37	chr10	89692893	89692893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaattcactgtaaagCtggaaagggacgaactggtg	13	7	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr10:89692893C>A	uc001kfb.2	+	6	1408	c.377C>A	c.(376-378)GCT>GAT	p.A126D		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	126	Phosphatase 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.A126T(5)|p.R55fs*1(4)|p.A126D(3)|p.?(2)|p.Y27fs*1(2)|p.A126P(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.A126V(1)|p.A126S(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		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)		CACTGTAAAGCTGGAAAGGGA	0.408		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692893	C	A	89692893	3	1	200	1	0	0	0	0	1	0	0	0	12738	797	28	5	395	5	PTEN	10	89692893	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	14136234	89692893	45841854	75	110688											
PPRC1	23082	broad.mit.edu	37	chr10	103909733	103909733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaagagcaaatttgatTctcttgactttgacacattg	7	7	1	4			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr10:103909733T>C	uc001kum.2	+	14	4981	c.4942T>C	c.(4942-4944)TCT>CCT	p.S1648P	PPRC1_uc001kun.2_Missense_Mutation_p.S1526P|PPRC1_uc010qqj.1_Missense_Mutation_p.S1384P|PPRC1_uc009xxa.2_RNA|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	1648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAAATTTGATTCTCTTGACTT	0.468													C	103909733	T	C	103909733	3	2	200	1	0	0	0	0	1	0	0	0	12410	1783	62	3	4996	3	PPRC1	10	103909733	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	14216840	103909733	31625014	76	110689											
SHOC2	8036	broad.mit.edu	37	chr10	112764475	112764475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccatctattccctcaacAtggaacacaatcgaatcaac	3	14	3	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr10:112764475A>G	uc001kzl.3	+	5	1433	c.1084A>G	c.(1084-1086)ATG>GTG	p.M362V	SHOC2_uc009xxx.2_Missense_Mutation_p.M362V|SHOC2_uc010qrg.1_Missense_Mutation_p.M1V|SHOC2_uc001kzn.2_Missense_Mutation_p.M316V	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	362	LRR 12.				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			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TTCCCTCAACATGGAACACAA	0.358													G	112764475	A	G	112764475	3	3	200	1	0	0	0	0	1	0	0	0	14287	217	8	3	1098	3	SHOC2	10	112764475	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	8854742	112764475	22770272	77	110690											
LRDD	55367	broad.mit.edu	37	chr11	799981	799981	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccaaggagaggccagCcccccgccgtggcccctcgg	16	17	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr11:799981C>G	uc001lro.1	-	15	2450	c.2308G>C	c.(2308-2310)GCT>CCT	p.A770P	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.A753P|LRDD_uc001lrl.1_Missense_Mutation_p.A613P|LRDD_uc001lrm.1_Missense_Mutation_p.A457P|LRDD_uc001lrn.1_Missense_Mutation_p.A613P|LRDD_uc001lrp.1_Silent_p.G453G	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	770					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		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)		GAGAGGCCAGCCCCCCGCCGT	0.622													G	799981	C	G	799981	3	3	200	1	0	0	0	0	1	0	0	0	8936	739	26	5	432	5	LRDD	11	799981	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08		799981	134206535	78	110691											
MUC5B	727897	broad.mit.edu	37	chr11	1279575	1279575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaggacctcagctgtgttCgtacaatggcaccttctacg	9	13	2	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr11:1279575C>T	uc009ycr.1	+	65	17708	c.17582C>T	c.(17581-17583)TCG>TTG	p.S5861L	MUC5B_uc001ltb.2_Missense_Mutation_p.S5527L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5524	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CAGCTGTGTTCGTACAATGGC	0.647													T	1279575	C	T	1279575	3	4	200	1	0	0	0	0	1	0	0	0	9979	893	31	1	16750	1	MUC5B	11	1279575	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	479594	1279575	133726941	79	110692											
CTSD	1509	broad.mit.edu	37	chr11	1776147	1776147	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actactcactggtccaggtgGacctgccagtaggccttgcg	12	13	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr11:1776147G>A	uc001luc.1	-	6	949	c.816C>T	c.(814-816)GTC>GTT	p.V272V	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	272					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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)	GGTCCAGGTGGACCTGCCAGT	0.642													A	1776147	G	A	1776147	2	1	200	1	0	0	0	0	0	0	0	1	4032	1161	41	4		4	CTSD	11	1776147	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	496572	1776147	133230369	80	110693											
C11orf94	143678	broad.mit.edu	37	chr11	45928464	45928464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgagagttccaggggggcgGaaaatgcctcaggaacagac	16	9	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr11:45928464G>T	uc001nbs.3	-	2	168	c.131C>A	c.(130-132)TCC>TAC	p.S44Y		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	hypothetical protein LOC143678	44						extracellular region					0						CAGGGGGGCGGAAAATGCCTC	0.622													T	45928464	G	T	45928464	3	4	200	1	0	0	0	0	1	0	0	0	1673	1174	41	5	173	5	C11orf94	11	45928464	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	44152317	45928464	89078052	81	110694											
APLNR	187	broad.mit.edu	37	chr11	57003375	57003375	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctgtaggggatggaTttctcgtgcatctgttctcc	12	10	3	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr11:57003375T>A	uc001njo.2	-	1	1553	c.1104A>T	c.(1102-1104)AAA>AAT	p.K368N	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	368	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						AGGGGATGGATTTCTCGTGCA	0.637													A	57003375	T	A	57003375	3	1	200	1	0	0	0	0	1	0	0	0	777	1490	52	5	42	5	APLNR	11	57003375	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	11074911	57003375	78003141	82	110695											
ITPR2	3709	broad.mit.edu	37	chr12	26818914	26818914	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttagtgataaccacatccaGaacttcttgtccattattag	5	10	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr12:26818914G>T	uc001rhg.2	-	14	1897	c.1480C>A	c.(1480-1482)CTG>ATG	p.L494M		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	494	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ACCACATCCAGAACTTCTTGT	0.333													T	26818914	G	T	26818914	3	4	200	1	0	0	0	0	1	0	0	0	7921	933	33	5	6801	5	ITPR2	12	26818914	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08		26818914	107032981	83	110696											
NOS1	4842	broad.mit.edu	37	chr12	117665383	117665383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctggatagatgggaactCctccagcacctccacgatgg	10	13	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr12:117665383C>T	uc001twm.1	-	23	4155	c.3469G>A	c.(3469-3471)GAG>AAG	p.E1157K		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1157	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GATGGGAACTCCTCCAGCACC	0.587													T	117665383	C	T	117665383	3	4	200	1	0	0	0	0	1	0	0	0	10541	864	30	4	863	4	NOS1	12	117665383	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	90846469	117665383	16186512	84	110697											
POLR1D	51082	broad.mit.edu	37	chr13	28239925	28239925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatgaacaaaaagagggCgataaggaaccagcgaagag	13	7	0	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr13:28239925C>T	uc001urp.2	+	3	322	c.204C>T	c.(202-204)GGC>GGT	p.G68G	POLR1D_uc010aam.2_Silent_p.G40G|POLR1D_uc001urq.2_RNA	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					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|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		AAAAAGAGGGCGATAAGGAAC	0.453													T	28239925	C	T	28239925	2	4	200	1	0	0	0	0	0	0	0	1	12212	755	27	1		1	POLR1D	13	28239925	Silent	SNP	C	TCGA-D7-5577-01A-01D-1600-08		28239925	86929953	85	110698											
NBEA	26960	broad.mit.edu	37	chr13	36124666	36124666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggatgttcagcgagatacGagctgtattttcaagacgtt	11	6	2	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr13:36124666G>A	uc001uvb.2	+	42	6844	c.6638G>A	c.(6637-6639)CGA>CAA	p.R2213Q	NBEA_uc010abi.2_Missense_Mutation_p.R869Q|NBEA_uc010tee.1_Missense_Mutation_p.R6Q|NBEA_uc010tef.1_Missense_Mutation_p.R6Q|NBEA_uc010teg.1_Missense_Mutation_p.R6Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2213						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AGCGAGATACGAGCTGTATTT	0.358													A	36124666	G	A	36124666	3	1	200	1	0	0	0	0	1	0	0	0	10187	1058	37	1	6804	1	NBEA	13	36124666	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	7884741	36124666	79045212	86	110699											
KLHL1	57626	broad.mit.edu	37	chr13	70275859	70275859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttgatgactaccacaCaggcacctgctctcccaata	7	14	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr13:70275859C>T	uc001vip.2	-	11	3016	c.2222G>A	c.(2221-2223)TGT>TAT	p.C741Y	KLHL1_uc010thm.1_Missense_Mutation_p.C680Y	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	741	Kelch 6.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GACTACCACACAGGCACCTGC	0.318													T	70275859	C	T	70275859	3	4	200	1	0	0	0	0	1	0	0	0	8365	478	17	4	28	4	KLHL1	13	70275859	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	34151193	70275859	44894019	87	110700											
NALCN	259232	broad.mit.edu	37	chr13	101747983	101747983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcaattttaaatttaAgttctttgacacactgacat	5	8	2	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr13:101747983A>G	uc001vox.1	-	28	3400	c.3211T>C	c.(3211-3213)TTA>CTA	p.L1071L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1071	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTAAATTTAAGTTCTTTGAC	0.358													G	101747983	A	G	101747983	2	3	200	1	0	0	0	0	0	0	0	1	10148	69	3	3		3	NALCN	13	101747983	Silent	SNP	A	TCGA-D7-5577-01A-01D-1600-08	31472124	101747983	13421895	88	110701											
OR4N2	390429	broad.mit.edu	37	chr14	20296524	20296524	+	Frame_Shift_Del	DEL	T	T	-													aaaggtgtttaataagcacaTagcctgaaaaagggcgcaaa							TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr14:20296523_20296523AT>A	uc010tkv.2	+	0	916	c.916_916AT>A	c.(916-918)atafs	p.I306fs		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	306					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)		TAATAAGCACATAGCCTGAAA	0.338													-	20296524	T	-	20296524	7	5	200	1	0	1	0	1	0	0	0	0	11077	1406	49	0	919	0	OR4N2	14	20296524	Frame_Shift_Del	DEL	T	TCGA-D7-5577-01A-01D-1600-08		20296524	87053016	89	110702											
BAG5	9529	broad.mit.edu	37	chr14	104027227	104027227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatgttctgtatttcaAtccggtgtgggtggtttgca	11	6	2	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr14:104027227A>G	uc001yni.1	-	2	509	c.275T>C	c.(274-276)ATT>ACT	p.I92T	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.I133T|BAG5_uc001ynj.1_Missense_Mutation_p.I92T|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	92					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			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			CTGTATTTCAATCCGGTGTGG	0.453													G	104027227	A	G	104027227	3	3	200	1	0	0	0	0	1	0	0	0	1290	101	4	3	1072	3	BAG5	14	104027227	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	83730703	104027227	3322313	90	110703											
BUB1B	701	broad.mit.edu	37	chr15	40462775	40462775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaactatcctcaaggtGggaaggagagtaatatgtca	12	6	2	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr15:40462775G>A	uc001zkx.3	+	4	489	c.277G>A	c.(277-279)GGG>AGG	p.G93R		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	93	BUB1 N-terminal.				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			stomach(2)|ovary(1)|kidney(1)	4		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)		TCCTCAAGGTGGGAAGGAGAG	0.378			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				A	40462775	G	A	40462775	3	1	200	1	0	0	0	0	1	0	0	0	1571	1348	47	4	291	4	BUB1B	15	40462775	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08		40462775	62068617	91	110704											
ATP8B4	79895	broad.mit.edu	37	chr15	50152452	50152452	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtggttttcttacatAaattttcaatccagctagtg	7	7	3	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr15:50152452A>T	uc001zxu.2	-	28	3660	c.3518T>A	c.(3517-3519)TTA>TAA	p.L1173*	ATP8B4_uc010ber.2_Nonsense_Mutation_p.L1046*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.L983*|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Nonsense_Mutation_p.L176*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1173	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTCTTACATAAATTTTCAAT	0.378													T	50152452	A	T	50152452	4	4	200	1	0	0	0	0	0	1	0	0	1197	372	13	5	64	5	ATP8B4	15	50152452	Nonsense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	9689677	50152452	52378940	92	110705											
MAP2K1	5604	broad.mit.edu	37	chr15	66774131	66774131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctagtcaactcccgtgggGagatcaagctctgtgacttt	10	11	3	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr15:66774131G>A	uc010bhq.2	+	6	1082	c.607G>A	c.(607-609)GAG>AAG	p.E203K	MAP2K1_uc010ujp.1_Missense_Mutation_p.E181K	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	203	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				0						CTCCCGTGGGGAGATCAAGCT	0.522									Cardiofaciocutaneous_syndrome				A	66774131	G	A	66774131	3	1	200	1	0	0	0	0	1	0	0	0	9236	1175	41	4	629	4	MAP2K1	15	66774131	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	16621679	66774131	35757261	93	110706											
MEX3B	84206	broad.mit.edu	37	chr15	82335987	82335987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccggggaagaccacGgaggaggaagaagcagacga	15	12	0	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr15:82335987G>A	uc002bgq.1	-	2	1539	c.1224C>T	c.(1222-1224)TCC>TCT	p.S408S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	408					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						GGAAGACCACGgaggaggaag	0.547													A	82335987	G	A	82335987	2	1	200	1	0	0	0	0	0	0	0	1	9510	1103	39	1		1	MEX3B	15	82335987	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	15561856	82335987	20195405	94	110707											
ABCA3	21	broad.mit.edu	37	chr16	2350053	2350053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccaccaggtcctctggctCggcttcaaagtactcgtttc	9	15	2	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr16:2350053C>T	uc002cpy.1	-	13	2276	c.1564G>A	c.(1564-1566)GAG>AAG	p.E522K	ABCA3_uc010bsk.1_Missense_Mutation_p.E464K|ABCA3_uc010bsl.1_Missense_Mutation_p.E522K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	522					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				TCCTCTGGCTCGGCTTCAAAG	0.617													T	2350053	C	T	2350053	3	4	200	1	0	0	0	0	1	0	0	0	33	893	31	1	3634	1	ABCA3	16	2350053	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08		2350053	88004700	95	110708											
PRPF8	10594	broad.mit.edu	37	chr17	1577953	1577953	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggcctctgatgatcccatAtgaattcgtatggttcatgt	9	9	2	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr17:1577953A>T	uc002fte.2	-	21	3196	c.3082T>A	c.(3082-3084)TAT>AAT	p.Y1028N		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1028						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGATCCCATATGAATTCGTA	0.453													T	1577953	A	T	1577953	3	4	200	1	0	0	0	0	1	0	0	0	12575	449	16	5	4017	5	PRPF8	17	1577953	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08		1577953	79617257	96	110709											
MYH1	4619	broad.mit.edu	37	chr17	10397924	10397924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttctctcatgtttgcGtagacccttgacagcttcaa	6	12	3	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr17:10397924G>A	uc002gmo.2	-	38	5627	c.5533C>T	c.(5533-5535)CGC>TGC	p.R1845C	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845	Potential.			R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TCATGTTTGCGTAGACCCTTG	0.393													A	10397924	G	A	10397924	3	1	200	1	0	0	0	0	1	0	0	0	10029	1145	40	1	298	1	MYH1	17	10397924	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	8819971	10397924	70797286	97	110710											
CDRT1	374286	broad.mit.edu	37	chr17	15522558	15522558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgctgaggtcgatccggGacctgttatagatgaaatcc	11	9	1	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr17:15522558G>A	uc002gov.3	-	1	461	c.269C>T	c.(268-270)TCC>TTC	p.S90F	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	90											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GTCGATCCGGGACCTGTTATA	0.388													A	15522558	G	A	15522558	3	1	200	1	0	0	0	0	1	0	0	0	3174	1174	41	4	2037	4	CDRT1	17	15522558	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	5124634	15522558	65672652	98	110711											
NOS2	4843	broad.mit.edu	37	chr17	26101464	26101464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtggtggtccatgatgGtcacattctgcttctgtatc	11	10	3	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr17:26101464G>A	uc002gzu.2	-	12	1559	c.1295C>T	c.(1294-1296)ACC>ATC	p.T432I	NOS2_uc010crh.1_Missense_Mutation_p.T432I|NOS2_uc010wab.1_Missense_Mutation_p.T432I	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	432					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			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GTCCATGATGGTCACATTCTG	0.577													A	26101464	G	A	26101464	3	1	200	1	0	0	0	0	1	0	0	0	10543	1261	44	4	2230	4	NOS2	17	26101464	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	10578906	26101464	55093746	99	110712											
HOXB9	3219	broad.mit.edu	37	chr17	46700468	46700468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgctttttccgggaagagcGagcgtgcagccagttggcgg	17	10	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr17:46700468G>A	uc002inx.2	-	2	751	c.547C>T	c.(547-549)CGC>TGC	p.R183C		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	183					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGGGAAGAGCGAGCGTGCAGC	0.552													A	46700468	G	A	46700468	3	1	200	1	0	0	0	0	1	0	0	0	7308	1058	37	1	209	1	HOXB9	17	46700468	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	20599004	46700468	34494742	100	110713											
MRC2	9902	broad.mit.edu	37	chr17	60769610	60769610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcttccagagaacccagCggccctggtggtggtgctga	15	12	0	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr17:60769610C>T	uc002jad.2	+	30	4640	c.4238C>T	c.(4237-4239)GCG>GTG	p.A1413V	MRC2_uc002jae.2_Missense_Mutation_p.A484V|MRC2_uc002jaf.2_Missense_Mutation_p.A279V	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1413	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGAACCCAGCGGCCCTGGTG	0.682													T	60769610	C	T	60769610	3	4	200	1	0	0	0	0	1	0	0	0	9758	768	27	1	4356	1	MRC2	17	60769610	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	14069142	60769610	20425600	101	110714											
COLEC12	81035	broad.mit.edu	37	chr18	480756	480756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctctgcgaagtcGtctgtgagagaagaagagac	11	11	2	4			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr18:480756G>A	uc002kkm.2	-	2	224	c.9C>T	c.(7-9)GAC>GAT	p.D3D		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	3	Cytoplasmic (Potential).				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			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTGCGAAGTCGTCTGTGAGAG	0.507													A	480756	G	A	480756	2	1	200	1	0	0	0	0	0	0	0	1	3712	1159	40	1		1	COLEC12	18	480756	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08		480756	77596492	102	110715											
PTPRM	5797	broad.mit.edu	37	chr18	8076563	8076563	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaatcactttatatgagGtaatatatatgtttgttagt	8	2	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr18:8076563G>T	uc002knn.3	+	9	2054	c.1551_splice	c.e9+1	p.E517_splice	PTPRM_uc010dkv.2_Splice_Site_p.E517_splice|PTPRM_uc010wzl.1_Splice_Site_p.E304_splice	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TTTATATGAGGTAATATATAT	0.284													T	8076563	G	T	8076563	5	4	200	1	0	0	0	0	0	0	1	0	12806	1275	44	5	1586	5	PTPRM	18	8076563	Splice_Site	SNP	G	TCGA-D7-5577-01A-01D-1600-08	7595807	8076563	70000685	103	110716											
MIB1	57534	broad.mit.edu	37	chr18	19383901	19383901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggccacacagctatgCaagctgctagtcagaatgga	12	10	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr18:19383901C>T	uc002ktq.2	+	10	1405	c.1405C>T	c.(1405-1407)CAA>TAA	p.Q469*	MIB1_uc002ktp.2_Nonsense_Mutation_p.Q108*	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	469	ANK 2.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			CACAGCTATGCAAGCTGCTAG	0.338													T	19383901	C	T	19383901	4	4	200	1	0	0	0	0	0	1	0	0	9566	711	25	2	1443	2	MIB1	18	19383901	Nonsense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	11307338	19383901	58693347	104	110717											
ASXL3	80816	broad.mit.edu	37	chr18	31325922	31325922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcccccgcctcccccccCaccacctccgctacctccac	3	27	0	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr18:31325922C>T	uc010dmg.1	+	12	6165	c.6110C>T	c.(6109-6111)CCA>CTA	p.P2037L	ASXL3_uc002kxq.2_Missense_Mutation_p.P1744L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2037	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						cctccccccccaccacctccg	0.259													T	31325922	C	T	31325922	3	4	200	1	0	0	0	0	1	0	0	0	1068	594	21	4	6156	4	ASXL3	18	31325922	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	11942021	31325922	46751326	105	110718											
POLI	11201	broad.mit.edu	37	chr18	51813768	51813768	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attccttcacatgtaattcaGaaattagggacaggtatgga	9	6	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr18:51813768G>A	uc002lfj.3	+	8	1253	c.1185G>A	c.(1183-1185)CAG>CAA	p.Q395Q	POLI_uc010xds.1_Silent_p.Q316Q|POLI_uc002lfk.3_Silent_p.Q292Q|POLI_uc010dpg.2_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	395					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ATGTAATTCAGAAATTAGGGA	0.403								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	51813768	G	A	51813768	2	1	200	1	0	0	0	0	0	0	0	1	12203	933	33	4		4	POLI	18	51813768	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	20487846	51813768	26263480	106	110719											
ELAVL3	1995	broad.mit.edu	37	chr19	11565632	11565632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgacaggcccacgccCgccaggccgctcataccatc	8	23	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:11565632C>T	uc002mry.1	-	7	1193	c.813G>A	c.(811-813)GCG>GCA	p.A271A	ELAVL3_uc002mrx.1_Silent_p.A264A	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	271					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						GGCCCACGCCCGCCAGGCCGC	0.582													T	11565632	C	T	11565632	2	4	200	1	0	0	0	0	0	0	0	1	5051	639	23	1		1	ELAVL3	19	11565632	Silent	SNP	C	TCGA-D7-5577-01A-01D-1600-08		11565632	47563351	107	110720											
GTPBP3	84705	broad.mit.edu	37	chr19	17450345	17450345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgctgctgagcgacaCggctgggttgcgggagggcg	19	10	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:17450345C>T	uc010eas.2	+	7	976	c.911C>T	c.(910-912)ACG>ATG	p.T304M	GTPBP3_uc010xpo.1_Missense_Mutation_p.T326M|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.T304M|GTPBP3_uc002ngg.3_Missense_Mutation_p.T336M|GTPBP3_uc002ngi.3_Translation_Start_Site	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	304	GTP (Potential).				tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						CTGAGCGACACGGCTGGGTTG	0.721													T	17450345	C	T	17450345	3	4	200	1	0	0	0	0	1	0	0	0	6881	536	19	1	1029	1	GTPBP3	19	17450345	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	5884713	17450345	41678638	108	110721											
ANKRD27	84079	broad.mit.edu	37	chr19	33090904	33090904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagctgagtggacaaaGtaaaactgtcttgtaaaagg	11	6	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:33090904G>A	uc002ntn.1	-	27	2976	c.2820C>T	c.(2818-2820)TAC>TAT	p.Y940Y		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	940					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					AGTGGACAAAGTAAAACTGTC	0.249													A	33090904	G	A	33090904	2	1	200	1	0	0	0	0	0	0	0	1	655	1024	36	4		4	ANKRD27	19	33090904	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	15640559	33090904	26038079	109	110722											
CD22	933	broad.mit.edu	37	chr19	35823667	35823667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcacaaaggatgggaaGgttccttctgagcagaaaag	13	6	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:35823667G>A	uc010edt.2	+	3	329	c.252G>A	c.(250-252)AAG>AAA	p.K84K	CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.K84K|CD22_uc010edv.2_Silent_p.K84K|CD22_uc002nzb.3_Silent_p.K84K	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	84	Extracellular (Potential).|Ig-like V-type.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	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)	AGGATGGGAAGGTTCCTTCTG	0.478													A	35823667	G	A	35823667	2	1	200	1	0	0	0	0	0	0	0	1	2985	991	35	4		4	CD22	19	35823667	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	2732763	35823667	23305316	110	110723											
KIR3DL1	3811	broad.mit.edu	37	chr19	55330051	55330051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accccgtggtgatcatggtcAcaggtcagaggctttccgtc	12	12	3	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:55330051A>C	uc002qhk.3	+	3	415	c.352A>C	c.(352-354)ACA>CCA	p.T118P	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.T60P|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Missense_Mutation_p.T60P|KIR3DL1_uc002qhl.3_Missense_Mutation_p.T118P	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	118	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GATCATGGTCACAGGTCAGAG	0.617													C	55330051	A	C	55330051	3	2	200	1	0	0	0	0	1	0	0	0	8320	159	6	5	362	5	KIR3DL1	19	55330051	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	19506384	55330051	3798932	111	110724											
ZFP28	140612	broad.mit.edu	37	chr19	57058966	57058966	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaggaacttgtacaggaaGgtgatgttggagaactacag	14	5	0	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:57058966G>C	uc002qnj.2	+	3	461	c.390G>C	c.(388-390)AAG>AAC	p.K130N	ZFP28_uc002qni.2_Missense_Mutation_p.K130N|uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	130	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGTACAGGAAGGTGATGTTGG	0.532													C	57058966	G	C	57058966	3	2	200	1	0	0	0	0	1	0	0	0	17639	991	35	5	400	5	ZFP28	19	57058966	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	1728915	57058966	2070017	112	110725											
PEG3	5178	broad.mit.edu	37	chr19	57328826	57328826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgactcccttgctcttccCgatttggaactgcgtgacac	8	14	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:57328826C>T	uc002qnu.2	-	7	1335	c.984G>A	c.(982-984)TCG>TCA	p.S328S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.S299S|PEG3_uc002qnv.2_Silent_p.S328S|PEG3_uc002qnw.2_Silent_p.S204S|PEG3_uc002qnx.2_Silent_p.S202S|PEG3_uc010etr.2_Silent_p.S328S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	328					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGCTCTTCCCGATTTGGAAC	0.473													T	57328826	C	T	57328826	2	4	200	1	0	0	0	0	0	0	0	1	11720	639	23	1		1	PEG3	19	57328826	Silent	SNP	C	TCGA-D7-5577-01A-01D-1600-08	269860	57328826	1800157	113	110726											
PEG3	5178	broad.mit.edu	37	chr19	57335782	57335782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgatgatctcctccttgGtgcgggtctccggctgcaac	12	14	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr19:57335782G>A	uc002qnu.2	-	1	593	c.242C>T	c.(241-243)ACC>ATC	p.T81I	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.T81I|PEG3_uc002qnv.2_Missense_Mutation_p.T81I|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.T81I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	81	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCCTCCTTGGTGCGGGTCTC	0.527													A	57335782	G	A	57335782	3	1	200	1	0	0	0	0	1	0	0	0	11720	1261	44	4		4	PEG3	19	57335782	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	6956	57335782	1793201	114	110727											
SIRPA	140885	broad.mit.edu	37	chr20	1902326	1902326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagggggaccctcttcGtgggactgccaacttgtctg	13	12	2	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr20:1902326G>A	uc002wfq.2	+	4	1082	c.722G>A	c.(721-723)CGT>CAT	p.R241H	SIRPA_uc010zps.1_Missense_Mutation_p.R221H|SIRPA_uc002wfr.2_Missense_Mutation_p.R241H|SIRPA_uc002wfs.2_Missense_Mutation_p.R241H|SIRPA_uc002wft.2_Missense_Mutation_p.R241H	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	241	Ig-like C1-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GACCCTCTTCGTGGGACTGCC	0.632													A	1902326	G	A	1902326	3	1	200	1	0	0	0	0	1	0	0	0	14332	1145	40	1	732	1	SIRPA	20	1902326	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08		1902326	61123194	115	110728											
ZHX3	23051	broad.mit.edu	37	chr20	39832021	39832021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaactggttccgacagaaGctccctttcagagctgacag	12	11	1	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr20:39832021G>A	uc002xjs.1	-	3	1914	c.1536C>T	c.(1534-1536)AGC>AGT	p.S512S	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.S512S|ZHX3_uc002xjt.1_Silent_p.S512S|ZHX3_uc002xju.1_Silent_p.S512S|ZHX3_uc002xjv.1_Silent_p.S512S|ZHX3_uc002xjw.1_Silent_p.S512S|ZHX3_uc010ggg.1_Silent_p.S512S	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	512	Required for nuclear localization.|Homeobox 2.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TCCGACAGAAGCTCCCTTTCA	0.507													A	39832021	G	A	39832021	2	1	200	1	0	0	0	0	0	0	0	1	17674	962	34	2		2	ZHX3	20	39832021	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	37929695	39832021	23193499	116	110729											
DNTTIP1	116092	broad.mit.edu	37	chr20	44430674	44430674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggacacatcctgtcaagcGaccgggcagccgccggcatg	13	15	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr20:44430674G>A	uc002xpk.2	+	7	603	c.535G>A	c.(535-537)GAC>AAC	p.D179N		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	179						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				CCTGTCAAGCGACCGGGCAGC	0.597													A	44430674	G	A	44430674	3	1	200	1	0	0	0	0	1	0	0	0	4681	1058	37	1	561	1	DNTTIP1	20	44430674	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	4598653	44430674	18594846	117	110730											
ZMYND8	23613	broad.mit.edu	37	chr20	45852980	45852980	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcattacctgactgggtGcaggacttcatgtgctcagg	14	9	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr20:45852980G>T	uc002xta.1	-	19	3440	c.3186C>A	c.(3184-3186)TGC>TGA	p.C1062*	ZMYND8_uc010ghq.1_Nonsense_Mutation_p.C693*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.C964*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.C944*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.C935*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.C990*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.C768*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.C768*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.C991*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.C953*|ZMYND8_uc010zxy.1_Nonsense_Mutation_p.C1089*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.C1036*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.C1062*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.C930*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.C1036*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.C1011*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.C1016*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.C1062*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.C1082*|ZMYND8_uc002xsr.1_Nonsense_Mutation_p.C161*	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1062	MYND-type.						protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGACTGGGTGCAGGACTTCA	0.582													T	45852980	G	T	45852980	4	4	200	1	0	0	0	0	0	1	0	0	17708	1311	46	5	478	5	ZMYND8	20	45852980	Nonsense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	1422306	45852980	17172540	118	110731											
PRPF6	24148	broad.mit.edu	37	chr20	62654204	62654204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgtggctgcgcgccgCgtacttcgagaagaaccatg	15	10	0	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr20:62654204C>T	uc002yho.2	+	13	1910	c.1742C>T	c.(1741-1743)GCG>GTG	p.A581V	PRPF6_uc002yhp.2_Missense_Mutation_p.A581V	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	581	HAT 4.				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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CTGCGCGCCGCGTACTTCGAG	0.572													T	62654204	C	T	62654204	3	4	200	1	0	0	0	0	1	0	0	0	12574	768	27	1	1792	1	PRPF6	20	62654204	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08	16801224	62654204	371316	119	110732											
LIPI	149998	broad.mit.edu	37	chr21	15517057	15517057	+	Frame_Shift_Del	DEL	A	A	-													ccaatgcttgaaatatttacAaagtcattataaaattgagc							TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr21:15517056_15517056CA>C	uc002yjm.3	-	8	1256	c.1246_1246TG>G	c.(1246-1248)gtafs	p.V416fs	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Frame_Shift_Del_p.V365fs|LIPI_uc021whh.1_Frame_Shift_Del_p.V389fs|LIPI_uc021whi.1_Frame_Shift_Del_p.V230fs|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Frame_Shift_Del_p.V360fs|LIPI_uc021whf.1_Frame_Shift_Del_p.V395fs	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	395					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAAATATTTACAAAGTCATTA	0.318													-	15517057	A	-	15517057	7	5	200	1	0	1	0	1	0	0	0	0	8825	127	5	0	208	0	LIPI	21	15517057	Frame_Shift_Del	DEL	A	TCGA-D7-5577-01A-01D-1600-08		15517057	32612838	120	110733											
MTMR3	8897	broad.mit.edu	37	chr22	30416326	30416326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagcctggtcgagaggcCccaagtggggtctgtggtgc	17	10	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr22:30416326C>T	uc003agv.3	+	17	3006	c.2678C>T	c.(2677-2679)CCC>CTC	p.P893L	MTMR3_uc003agu.3_Missense_Mutation_p.P893L|MTMR3_uc003agw.3_Missense_Mutation_p.P893L	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	893					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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTCGAGAGGCCCCAAGTGGGG	0.552													T	30416326	C	T	30416326	3	4	200	1	0	0	0	0	1	0	0	0	9945	623	22	4	2736	4	MTMR3	22	30416326	Missense_Mutation	SNP	C	TCGA-D7-5577-01A-01D-1600-08		30416326	20888240	121	110734											
DEPDC5	9681	broad.mit.edu	37	chr22	32218693	32218693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcacagcaattcccGccagcctggtgacggcatgt	12	14	0	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr22:32218693G>A	uc003als.2	+	24	2163	c.2021G>A	c.(2020-2022)CGC>CAC	p.R674H	DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Missense_Mutation_p.R674H|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Missense_Mutation_p.R674H|DEPDC5_uc003alu.2_Missense_Mutation_p.R114H|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_5'UTR|DEPDC5_uc011alt.1_Intron	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	674					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						AGCAATTCCCGCCAGCCTGGT	0.542													A	32218693	G	A	32218693	3	1	200	1	0	0	0	0	1	0	0	0	4442	1087	38	1	2129	1	DEPDC5	22	32218693	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	1802367	32218693	19085873	122	110735											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42321482	42321484	+	In_Frame_Del	DEL	AGG	AGG	-													gtggttcctgggtcttccccAggaggaggccaggcaggagc							TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr22:42321481_42321483CAGG>C	uc010gyp.1	-	2	490_492	c.446_448CCTG>G	c.(445-450)cctggg>cGgg	p.149_150PG>R	bK250D10.C22.8_uc003bba.1_Intron|TNFRSF13C_uc003bbl.2_In_Frame_Del_p.148_149PG>R	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13C (TNFRSF13C), mRNA.	148						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GGGTCTTCCCCAGGAGGAGGCCA	0.645													-	42321484	AGG	-	42321482	7	5	200	1	0	1	0	1	0	0	0	0	16285	175	7	0	114	0	TNFRSF13C	22	42321482	In_Frame_Del	DEL	AGG	TCGA-D7-5577-01A-01D-1600-08	10102789	42321482	8983084	123	110736											
PNPLA3	80339	broad.mit.edu	37	chr22	44335951	44335951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccattaggataatgtcttAtgtaatgctgccctgtaccc	7	11	1	0			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chr22:44335951A>G	uc003bei.1	+	7	1231	c.1058A>G	c.(1057-1059)TAT>TGT	p.Y353C	PNPLA3_uc010gzm.1_RNA	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	353	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)				ATAATGTCTTATGTAATGCTG	0.378													G	44335951	A	G	44335951	3	3	200	1	0	0	0	0	1	0	0	0	12166	449	16	3	1084	3	PNPLA3	22	44335951	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	2014469	44335951	6968615	124	110737											
NLGN4X	57502	broad.mit.edu	37	chrX	5810979	5810979	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatcatggtgatggtgTttggcgtcataagtgggatg	16	3	2	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:5810979T>A	uc010ndh.2	-	6	2831	c.2330A>T	c.(2329-2331)AAC>ATC	p.N777I	NLGN4X_uc004crp.2_Missense_Mutation_p.N797I|NLGN4X_uc004crq.2_Missense_Mutation_p.N777I|NLGN4X_uc010ndi.2_Missense_Mutation_p.N814I|NLGN4X_uc004crr.2_Missense_Mutation_p.N777I|NLGN4X_uc010ndj.2_Missense_Mutation_p.N777I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	777	Cytoplasmic (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						GGTGATGGTGTTTGGCGTCAT	0.547													A	5810979	T	A	5810979	3	1	200	1	0	0	0	0	1	0	0	0	10464	1725	60	5	124	5	NLGN4X	23	5810979	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08		5810979	149459581	125	110738											
WWC3	55841	broad.mit.edu	37	chrX	10093130	10093130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaacccggcggggctggcGgtgaaggaagactgcaaagt	17	8	0	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:10093130G>A	uc004csx.3	+	14	2091	c.1893G>A	c.(1891-1893)GCG>GCA	p.A631A	WWC3_uc010nds.2_Silent_p.A295A|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	631	C2.									ovary(4)	4						CGGGGCTGGCGGTGAAGGAAG	0.612													A	10093130	G	A	10093130	2	1	200	1	0	0	0	0	0	0	0	1	17410	1103	39	1		1	WWC3	23	10093130	Silent	SNP	G	TCGA-D7-5577-01A-01D-1600-08	4282151	10093130	145177430	126	110739											
CLCN5	1184	broad.mit.edu	37	chrX	49846487	49846487	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaacaaatacaggaagaatGaagccaagcgcagagaggta	11	7	1	3			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:49846487G>A	uc004dos.1	+	6	954	c.706G>A	c.(706-708)GAA>AAA	p.E236K	CLCN5_uc004dor.1_Missense_Mutation_p.E306K|CLCN5_uc004doq.1_Missense_Mutation_p.E306K|CLCN5_uc004dot.1_Missense_Mutation_p.E236K	NM_000084	NP_000075	P51795	CLCN5_HUMAN	chloride channel 5 isoform b	236					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)					CAGGAAGAATGAAGCCAAGCG	0.373													A	49846487	G	A	49846487	3	1	200	1	0	0	0	0	1	0	0	0	3466	1291	45	4	942	4	CLCN5	23	49846487	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	39753357	49846487	105424073	127	110740											
ITIH5L	347365	broad.mit.edu	37	chrX	54823454	54823454	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagcatgtggattaaAcaggacagaggtgaccaagg	14	7	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:54823454A>T	uc004dtj.2	-	2	208	c.178T>A	c.(178-180)TTT>ATT	p.F60I		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	60	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TGTGGATTAAACAGGACAGAG	0.478													T	54823454	A	T	54823454	3	4	200	1	0	0	0	0	1	0	0	0	7908	43	2	5	3811	5	ITIH5L	23	54823454	Missense_Mutation	SNP	A	TCGA-D7-5577-01A-01D-1600-08	4976967	54823454	100447106	128	110741											
VSIG4	11326	broad.mit.edu	37	chrX	65242139	65242139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctcagtggccagaaacTcataatccagaggaactgtg	10	11	2	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:65242139T>G	uc004dwh.2	-	8	1293	c.1166A>C	c.(1165-1167)GAG>GCG	p.E389A	VSIG4_uc004dwi.2_Missense_Mutation_p.E295A|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	389	Cytoplasmic (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						GGCCAGAAACTCATAATCCAG	0.512													G	65242139	T	G	65242139	3	3	200	1	0	0	0	0	1	0	0	0	17222	1551	54	5	37	5	VSIG4	23	65242139	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	10418685	65242139	90028421	129	110742											
PCDH11X	27328	broad.mit.edu	37	chrX	91132785	91132785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccacctgaattcagcctgGattgtcgtacaggcatgctg	10	12	1	1			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:91132785G>T	uc004efk.1	+	2	2391	c.1546G>T	c.(1546-1548)GAT>TAT	p.D516Y	PCDH11X_uc004efl.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D516Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D516Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	516	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATTCAGCCTGGATTGTCGTAC	0.438													T	91132785	G	T	91132785	3	4	200	1	0	0	0	0	1	0	0	0	11508	1174	41	5	1552	5	PCDH11X	23	91132785	Missense_Mutation	SNP	G	TCGA-D7-5577-01A-01D-1600-08	25890646	91132785	64137775	130	110743											
BCORL1	63035	broad.mit.edu	37	chrX	129185952	129185952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaactctcagacaagcctcTtctcccttgctacaacctcc	4	17	3	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:129185952T>G	uc004evb.1	+	12	4928	c.4814T>G	c.(4813-4815)CTT>CGT	p.L1605R	BCORL1_uc004evc.1_Missense_Mutation_p.L441R	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1605					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GACAAGCCTCTTCTCCCTTGC	0.527													G	129185952	T	G	129185952	3	3	200	1	0	0	0	0	1	0	0	0	1387	1609	56	5	5082	5	BCORL1	23	129185952	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	38053167	129185952	26084608	131	110744											
PRRG3	79057	broad.mit.edu	37	chrX	150869083	150869084	+	Frame_Shift_Ins	INS	-	-	T													ccttctgggggtggcactgcINStgattgtcatcgccttgttc							TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:150869083_150869084insT	uc004few.1	+	4	664_665	c.274_275insT	c.(274-276)CTGfs	p.L92fs		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	92	Helical; (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGCACTGCTGATTGTCATC	0.579													T	150869084	-	T	150869083	7	5	200	1	0	1	1	0	0	0	0	0	12607	796	28	0	284	0	PRRG3	23	150869083	Frame_Shift_Ins	INS	-	TCGA-D7-5577-01A-01D-1600-08	21683131	150869083	4401477	132	110745	522	2									
PRRG3	79057	broad.mit.edu	37	chrX	150869084	150869085	+	Frame_Shift_Ins	INS	-	-	T													cttctgggggtggcactgctINSgattgtcatcgccttgttca							TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:150869083_150869084C>CT	uc022cgt.1	+	3	323_324	c.274_275C>CT	c.(274-276)ctgfs	p.L92fs	PRRG3_uc004few.2_Frame_Shift_Ins_p.L92fs	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	92						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGCACTGCTGATTGTCATC	0.579													T	150869085	-	T	150869084	7	5	200	1	0	1	1	0	0	0	0	0	12607	1580	55	0	285	0	PRRG3	23	150869084	Frame_Shift_Ins	INS	-	TCGA-D7-5577-01A-01D-1600-08	1	150869084	4401476	133	110746	522	2									
F8	2157	broad.mit.edu	37	chrX	154088774	154088774	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgctggagatgaggaacTccttcacatacatgctggta	11	9	1	2			TCGA-D7-5577-01A-01D-1600-08	TCGA-D7-5577-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2e22c70-8295-481b-a853-e756e7a7d8e7	000c187a-0896-4c4a-81e8-36479b55b228	g.chrX:154088774T>G	uc004fmt.2	-	25	7004	c.6833A>C	c.(6832-6834)GAG>GCG	p.E2278A	F8_uc004fms.2_Missense_Mutation_p.E143A	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2278	F5/8 type C 2.				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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	GATGAGGAACTCCTTCACATA	0.418													G	154088774	T	G	154088774	3	3	200	1	0	0	0	0	1	0	0	0	5350	1551	54	5	230	5	F8	23	154088774	Missense_Mutation	SNP	T	TCGA-D7-5577-01A-01D-1600-08	3219690	154088774	1181786	134	110747											
AGTRAP	57085	broad.mit.edu	37	chr1	11808641	11808641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccacatgtaccgggagcGcgggggtgagctcctggtcc	15	13	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:11808641G>A	uc001asv.2	+	4	462	c.338G>A	c.(337-339)CGC>CAC	p.R113H	AGTRAP_uc001ast.2_Silent_p.A145A|AGTRAP_uc001asu.2_Silent_p.A145A|AGTRAP_uc001asw.2_Missense_Mutation_p.R113H|AGTRAP_uc001asx.2_Silent_p.A101A	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	113	Cytoplasmic (Potential).|Interaction with AGTR1.					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	stomach(2)	2	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)		TACCGGGAGCGCGGGGGTGAG	0.662													A	11808641	G	A	11808641	3	1	201	1	0	0	0	0	1	0	0	0	403	1087	38	1	453	1	AGTRAP	1	11808641	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		11808641	237441980	1	110748											
PRDM2	7799	broad.mit.edu	37	chr1	14105854	14105854	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacggcgaaaaggaggccttGaagagccccagcctccagca	12	13	0	2	rs148030242	by1000genomes	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:14105854G>C	uc001avi.2	+	8	2420	c.1564G>C	c.(1564-1566)GAA>CAA	p.E522Q	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E522Q|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E279Q|PRDM2_uc001avk.2_Missense_Mutation_p.E321Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	522						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		AGGAGGCCTTGAAGAGCCCCA	0.512													C	14105854	G	C	14105854	3	2	201	1	0	0	0	0	1	0	0	0	12458	1291	45	5	1590	5	PRDM2	1	14105854	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	2297213	14105854	235144767	2	110749											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809393	18809393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggaaatcttcgtcaccGgcggctcgctgcgcttcctg	11	15	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:18809393G>A	uc001bax.2	+	1	1970	c.1918G>A	c.(1918-1920)GGC>AGC	p.G640S	KLHDC7A_uc009vpg.2_Missense_Mutation_p.G422S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	640	Kelch 5.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		CTTCGTCACCGGCGGCTCGCT	0.716													A	18809393	G	A	18809393	3	1	201	1	0	0	0	0	1	0	0	0	8360	1116	39	1	1920	1	KLHDC7A	1	18809393	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	4703539	18809393	230441228	3	110750											
TAS1R2	80834	broad.mit.edu	37	chr1	19181079	19181079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggcgatccacacggcGccagtgaagttctggcgcag	15	12	1	1	rs148401055		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:19181079G>A	uc001bba.1	-	3	886	c.885C>T	c.(883-885)GGC>GGT	p.G295G		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	295	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	TCCACACGGCGCCAGTGAAGT	0.632													A	19181079	G	A	19181079	2	1	201	1	0	0	0	0	0	0	0	1	15560	1074	38	1		1	TAS1R2	1	19181079	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	371686	19181079	230069542	4	110751											
TAS1R2	80834	broad.mit.edu	37	chr1	19181261	19181261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcgtctcctggaaggCgatgcagatgtcgcgccggg	18	11	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:19181261C>T	uc001bba.1	-	3	704	c.703G>A	c.(703-705)GCC>ACC	p.A235T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	235	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	TCCTGGAAGGCGATGCAGATG	0.637													T	19181261	C	T	19181261	3	4	201	1	0	0	0	0	1	0	0	0	15560	768	27	1	1832	1	TAS1R2	1	19181261	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	182	19181261	230069360	5	110752											
RUNX3	864	broad.mit.edu	37	chr1	25229132	25229132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcaaactggcgggggtcGgagaatgggttcagttccga	17	8	2	1	rs144597350		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:25229132G>A	uc001bjq.2	-	5	1140	c.729C>T	c.(727-729)TCC>TCT	p.S243S	RUNX3_uc010oen.1_Silent_p.S190S|RUNX3_uc009vrj.2_Silent_p.S257S|RUNX3_uc001bjr.2_Silent_p.S257S|RUNX3_uc001bjs.2_RNA	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	243	Pro/Ser/Thr-rich.				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				0		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)		GGCGGGGGTCGGAGAATGGGT	0.622													A	25229132	G	A	25229132	2	1	201	1	0	0	0	0	0	0	0	1	13749	1103	39	1		1	RUNX3	1	25229132	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	6047871	25229132	224021489	6	110753											
GNL2	29889	broad.mit.edu	37	chr1	38058379	38058379	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccgttgattgatattgcaGgggtttaattattttaccac	8	7	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:38058379G>C	uc001cbk.2	-	3	341	c.178C>G	c.(178-180)CTG>GTG	p.L60V	GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.L60V	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	60					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				TGATATTGCAGGGGTTTAATT	0.378													C	38058379	G	C	38058379	3	2	201	1	0	0	0	0	1	0	0	0	6536	991	35	5	2073	5	GNL2	1	38058379	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	12829247	38058379	211192242	7	110754											
PTCH2	8643	broad.mit.edu	37	chr1	45292345	45292345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgcgcatgctgcccGggccccctcgatggcctcca	12	19	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:45292345G>A	uc010olf.1	-	18	2803	c.2791C>T	c.(2791-2793)CGG>TGG	p.R931W	PTCH2_uc010olg.1_Missense_Mutation_p.R629W	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	931	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CATGCTGCCCGGGCCCCCTCG	0.667									Basal_Cell_Nevus_syndrome				A	45292345	G	A	45292345	3	1	201	1	0	0	0	0	1	0	0	0	12731	1115	39	1	860	1	PTCH2	1	45292345	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	7233966	45292345	203958276	8	110755											
ZCCHC11	23318	broad.mit.edu	37	chr1	52991676	52991676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttgctttgcaatgactttGatctcgaaggactaacccca	7	10	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:52991676G>A	uc001ctx.2	-	2	511	c.277C>T	c.(277-279)CAA>TAA	p.Q93*	ZCCHC11_uc001cty.2_Nonsense_Mutation_p.Q93*|ZCCHC11_uc001ctz.2_Nonsense_Mutation_p.Q93*|ZCCHC11_uc009vze.1_Nonsense_Mutation_p.Q93*|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Nonsense_Mutation_p.Q93*|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Nonsense_Mutation_p.Q93*	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	93					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CAATGACTTTGATCTCGAAGG	0.378													A	52991676	G	A	52991676	4	1	201	1	0	0	0	0	0	1	0	0	17577	1299	45	4	4776	4	ZCCHC11	1	52991676	Nonsense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	7699331	52991676	196258945	9	110756											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76878075	76878075	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgagttactgtgatggagTttttaagaaggaaactggga	13	3	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:76878075T>A	uc001dhh.2	+	3	759	c.596T>A	c.(595-597)GTT>GAT	p.V199D	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.V199D|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.V134D	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	199	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						TGTGATGGAGTTTTTAAGAAG	0.398													A	76878075	T	A	76878075	3	1	201	1	0	0	0	0	1	0	0	0	15224	1725	60	5	606	5	ST6GALNAC3	1	76878075	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	23886399	76878075	172372546	10	110757											
ODF2L	57489	broad.mit.edu	37	chr1	86826217	86826217	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaaagcagcaagtgtAgtctagcaaaaaagatatag	8	7	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:86826217A>G	uc001dll.1	-	12	1486	c.1146T>C	c.(1144-1146)ACT>ACC	p.T382T	ODF2L_uc001dlm.1_Silent_p.T353T|ODF2L_uc001dln.2_Silent_p.T353T|ODF2L_uc001dlo.2_Silent_p.T222T|ODF2L_uc001dlp.2_Silent_p.T382T|ODF2L_uc010osg.1_Silent_p.T353T|ODF2L_uc001dlq.1_Silent_p.T183T|ODF2L_uc009wcr.1_Silent_p.T222T	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	382	Potential.					centrosome				ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAGCAAGTGTAGTCTAGCAAA	0.279													G	86826217	A	G	86826217	2	3	201	1	0	0	0	0	0	0	0	1	10828	407	15	3		3	ODF2L	1	86826217	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	9948142	86826217	162424404	11	110758											
NOTCH2	4853	broad.mit.edu	37	chr1	120462932	120462932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagcgatggtgtcctaCggatgtctgcagcttcaagg	14	10	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:120462932C>T	uc001eik.2	-	30	5655	c.5399G>A	c.(5398-5400)CGT>CAT	p.R1800H		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1800	Cytoplasmic (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TGGTGTCCTACGGATGTCTGC	0.567			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120462932	C	T	120462932	3	4	201	1	0	0	0	0	1	0	0	0	10548	536	19	1	2036	1	NOTCH2	1	120462932	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	33636715	120462932	128787689	12	110759											
MLLT11	10962	broad.mit.edu	37	chr1	151039794	151039794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggagctggaaggcctgggtCtgtcagatacagccacctac	13	12	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:151039794C>G	uc001ewq.2	+	2	979	c.94C>G	c.(94-96)CTG>GTG	p.L32V		NM_006818	NP_006809	Q13015	AF1Q_HUMAN	MLLT11 protein	32					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent						0	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)			AGGCCTGGGTCTGTCAGATAC	0.532													G	151039794	C	G	151039794	3	3	201	1	0	0	0	0	1	0	0	0	9627	912	32	5	96	5	MLLT11	1	151039794	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	30576862	151039794	98210827	13	110760											
TCHH	7062	broad.mit.edu	37	chr1	152084947	152084947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccggagcactgtctcgCgcttcctccactctttctct	6	18	3	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:152084947C>T	uc001ezp.2	-	2	746	c.746G>A	c.(745-747)CGC>CAC	p.R249H	TCHH_uc009wne.1_Missense_Mutation_p.R249H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	249					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGTCTCGCGCTTCCTCCA	0.582													T	152084947	C	T	152084947	3	4	201	1	0	0	0	0	1	0	0	0	15697	768	27	1	5089	1	TCHH	1	152084947	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1045153	152084947	97165674	14	110761											
PGLYRP3	114771	broad.mit.edu	37	chr1	153274943	153274943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggactgtatgtttcggaCgacagtctggcagtctgtgg	14	7	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:153274943C>T	uc001fbn.1	-	5	723	c.670G>A	c.(670-672)GTC>ATC	p.V224I		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	224					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			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGTTTCGGACGACAGTCTGG	0.468													T	153274943	C	T	153274943	3	4	201	1	0	0	0	0	1	0	0	0	11795	536	19	1	367	1	PGLYRP3	1	153274943	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1189996	153274943	95975678	15	110762											
NPR1	4881	broad.mit.edu	37	chr1	153653765	153653765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttcaccatggaggatgGcctggtaagaaggggtcccg	14	10	1	1	rs17855820		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:153653765G>A	uc001fcs.3	+	3	1452	c.1031G>A	c.(1030-1032)GGC>GAC	p.G344D	NPR1_uc010pdz.1_Missense_Mutation_p.G90D	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	344	Extracellular (Potential).			G -> V (in Ref. 7; AAH63304).	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			ovary(3)|lung(2)|stomach(1)|breast(1)	7	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)	ATGGAGGATGGCCTGGTAAGA	0.537													A	153653765	G	A	153653765	3	1	201	1	0	0	0	0	1	0	0	0	10594	1203	42	2	1041	2	NPR1	1	153653765	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	378822	153653765	95596856	16	110763											
MSTO1	55154	broad.mit.edu	37	chr1	155583270	155583270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccagctcaccccagggaCacctccaccctctgcccttc	6	22	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:155583270C>A	uc001fky.2	+	12	1334	c.1301C>A	c.(1300-1302)ACA>AAA	p.T434K	MSTO1_uc001fkw.2_Missense_Mutation_p.T434K|MSTO1_uc001fkx.2_Missense_Mutation_p.T434K|MSTO1_uc001fla.2_Missense_Mutation_p.T253K|MSTO1_uc001fkz.2_Missense_Mutation_p.T365K|MSTO1_uc001fld.3_Missense_Mutation_p.T256K|MSTO1_uc009wqs.2_Missense_Mutation_p.T313K|MSTO1_uc010pgf.1_Missense_Mutation_p.T379K|MSTO1_uc001flb.2_Missense_Mutation_p.D315E|MSTO1_uc001flc.2_Missense_Mutation_p.T256K	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	misato	434					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex					0	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					ACCCCAGGGACACCTCCACCC	0.502													A	155583270	C	A	155583270	3	1	201	1	0	0	0	0	1	0	0	0	9894	478	17	5	1347	5	MSTO1	1	155583270	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1929505	155583270	93667351	17	110764											
SPTA1	6708	broad.mit.edu	37	chr1	158589972	158589972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttacctcaatgatgtcAgataggtgcttccaggtcct	10	10	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:158589972A>G	uc001fst.1	-	44	6604	c.6405T>C	c.(6403-6405)TCT>TCC	p.S2135S		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2135	Spectrin 20.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAATGATGTCAGATAGGTGCT	0.373													G	158589972	A	G	158589972	2	3	201	1	0	0	0	0	0	0	0	1	15115	175	7	3		3	SPTA1	1	158589972	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	3006702	158589972	90660649	18	110765											
SPTA1	6708	broad.mit.edu	37	chr1	158647617	158647617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccactggatggcttcagTcacatccctgcagtcattaa	8	12	3	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:158647617T>C	uc001fst.1	-	7	1019	c.820A>G	c.(820-822)ACT>GCT	p.T274A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	274	Spectrin 4.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ATGGCTTCAGTCACATCCCTG	0.478													C	158647617	T	C	158647617	3	2	201	1	0	0	0	0	1	0	0	0	15115	1667	58	3	6623	3	SPTA1	1	158647617	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	57645	158647617	90603004	19	110766											
CCDC19	25790	broad.mit.edu	37	chr1	159846399	159846399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctgaacagccagagcGtgctccttgaaagccacctg	10	14	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:159846399G>A	uc001fui.2	-	10	1317	c.1299C>T	c.(1297-1299)CAC>CAT	p.H433H	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.H348H|CCDC19_uc001ful.2_Silent_p.H348H|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	433	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAGCCAGAGCGTGCTCCTTGA	0.542													A	159846399	G	A	159846399	2	1	201	1	0	0	0	0	0	0	0	1	2795	1136	40	1		1	CCDC19	1	159846399	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	1198782	159846399	89404222	20	110767											
FMO1	2326	broad.mit.edu	37	chr1	171249946	171249946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcctcagcaccaccggaGggggatgggtgatcagccga	15	11	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:171249946G>A	uc009wvz.2	+	6	785	c.649G>A	c.(649-651)GGG>AGG	p.G217R	FMO1_uc010pme.1_Missense_Mutation_p.G154R|FMO1_uc001ghl.2_Missense_Mutation_p.G217R|FMO1_uc001ghm.2_Missense_Mutation_p.G217R|FMO1_uc001ghn.2_Missense_Mutation_p.G217R	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	217					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			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCACCGGAGGGGGATGGGT	0.522													A	171249946	G	A	171249946	3	1	201	1	0	0	0	0	1	0	0	0	5954	1000	35	4	667	4	FMO1	1	171249946	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	11403547	171249946	78000675	21	110768											
RD3	343035	broad.mit.edu	37	chr1	211654555	211654555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaggtcataggtggacCggggtgtgctggccagccag	19	9	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:211654555C>T	uc001him.2	-	2	1367	c.203G>A	c.(202-204)CGG>CAG	p.R68Q	RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	68			R -> W.		response to stimulus|visual perception					ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		ATAGGTGGACCGGGGTGTGCT	0.607													T	211654555	C	T	211654555	3	4	201	1	0	0	0	0	1	0	0	0	13187	652	23	1	392	1	RD3	1	211654555	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	40404609	211654555	37596066	22	110769											
HLX	3142	broad.mit.edu	37	chr1	221057864	221057864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtggtgggagcagcggcGgcggcggcaatagtttcagc	20	8	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:221057864G>A	uc001hmv.3	+	4	1742	c.1285G>A	c.(1285-1287)GGC>AGC	p.G429S		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	429	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		gagcagcggcggcggcggcaa	0.229													A	221057864	G	A	221057864	3	1	201	1	0	0	0	0	1	0	0	0	7216	1116	39	1	1299	1	HLX	1	221057864	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	9403309	221057864	28192757	23	110770											
MIA3	375056	broad.mit.edu	37	chr1	222837352	222837353	+	Frame_Shift_Ins	INS	-	-	C													tctgcaggttaatatggctcINScaaaagggccccctcctttc							TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:222837351_222837352T>TC	uc001hnl.3	+	26	5283_5284	c.5274_5275T>TC	c.(5272-5277)gctccafs	p.A1758fs	MIA3_uc001hnm.3_Frame_Shift_Ins_p.A636fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1758	Pro-rich.				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)		TTAATATGGCTCCAAAAGGGCC	0.485													C	222837353	-	C	222837352	7	5	201	1	0	1	1	0	0	0	0	0	9565	855	30	0	5381	0	MIA3	1	222837352	Frame_Shift_Ins	INS	-	TCGA-D7-5578-01A-01D-1600-08	1779488	222837352	26413269	24	110771											
HEATR1	55127	broad.mit.edu	37	chr1	236730096	236730096	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctccgggacgtgtggcagCgcatccacaaatacactaat	10	12	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:236730096C>G	uc001hyd.1	-	30	4283	c.4158G>C	c.(4156-4158)GCG>GCC	p.A1386A	HEATR1_uc009xgh.1_Silent_p.A548A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1386					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGTGTGGCAGCGCATCCACAA	0.453													G	236730096	C	G	236730096	2	3	201	1	0	0	0	0	0	0	0	1	7027	755	27	5		5	HEATR1	1	236730096	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	13892744	236730096	12520525	25	110772											
RYR2	6262	broad.mit.edu	37	chr1	237753203	237753203	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggcttacaagagggctatGaaccatttgccgttaataca	10	8	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:237753203G>C	uc001hyl.1	+	30	3829	c.3709G>C	c.(3709-3711)GAA>CAA	p.E1237Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1237	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AGAGGGCTATGAACCATTTGC	0.438													C	237753203	G	C	237753203	3	2	201	1	0	0	0	0	1	0	0	0	13769	1291	45	5	3827	5	RYR2	1	237753203	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	1023107	237753203	11497418	26	110773											
RYR2	6262	broad.mit.edu	37	chr1	237777344	237777344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccttctacagatctgTtgacatcttagagttgacag	7	11	3	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr1:237777344T>C	uc001hyl.1	+	37	5036	c.4916T>C	c.(4915-4917)GTT>GCT	p.V1639A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1639	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TACAGATCTGTTGACATCTTA	0.423													C	237777344	T	C	237777344	3	2	201	1	0	0	0	0	1	0	0	0	13769	1725	60	3	5062	3	RYR2	1	237777344	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	24141	237777344	11473277	27	110774											
TTC15	51112	broad.mit.edu	37	chr2	3391965	3391965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcggtggcgccagcgagGcctcggccaggacaccgccc	15	17	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:3391965G>A	uc002qxm.1	+	2	777	c.571G>A	c.(571-573)GCC>ACC	p.A191T	TTC15_uc002qxn.1_Missense_Mutation_p.A191T|TTC15_uc010ewm.1_Missense_Mutation_p.A191T|TTC15_uc002qxl.1_Missense_Mutation_p.A191T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	191							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CGCCAGCGAGGCCTCGGCCAG	0.706													A	3391965	G	A	3391965	3	1	201	1	0	0	0	0	1	0	0	0	16679	1203	42	2	573	2	TTC15	2	3391965	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		3391965	239807408	28	110775											
IFT172	26160	broad.mit.edu	37	chr2	27683894	27683894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctagtacctttcatgaatgCgttgcctttacggtagcact	9	10	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:27683894C>T	uc002rku.2	-	23	2560	c.2509G>A	c.(2509-2511)GCA>ACA	p.A837T		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	837	TPR 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TTCATGAATGCGTTGCCTTTA	0.428													T	27683894	C	T	27683894	3	4	201	1	0	0	0	0	1	0	0	0	7557	768	27	1	2844	1	IFT172	2	27683894	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	24291929	27683894	215515479	29	110776											
HNRPLL	92906	broad.mit.edu	37	chr2	38804623	38804623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catagccatcatgtctaaacGaagaagggtgttctcccaaa	8	10	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:38804623G>A	uc002rqw.2	-	7	1264	c.854C>T	c.(853-855)TCG>TTG	p.S285L	HNRPLL_uc002rqv.2_5'UTR|HNRPLL_uc002rqx.2_Missense_Mutation_p.S280L	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	285					mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			skin(1)	1		all_hematologic(82;0.248)				ATGTCTAAACGAAGAAGGGTG	0.398													A	38804623	G	A	38804623	3	1	201	1	0	0	0	0	1	0	0	0	7277	1059	37	1	802	1	HNRPLL	2	38804623	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	11120729	38804623	204394750	30	110777											
FSHR	2492	broad.mit.edu	37	chr2	49217713	49217713	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaacttacagtaaaacTttttggagagaatgaatctt	7	4	1	2	rs1126715		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:49217713T>G	uc002rww.2	-	5	512	c.438A>C	c.(436-438)AAA>AAC	p.K146N	FSHR_uc002rwx.2_Missense_Mutation_p.K146N|FSHR_uc010fbn.2_Missense_Mutation_p.K146N|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	146	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	ACAGTAAAACTTTTTGGAGAG	0.373									Gonadal_Dysgenesis_46_XX				G	49217713	T	G	49217713	3	3	201	1	0	0	0	0	1	0	0	0	6073	1606	56	5	1673	5	FSHR	2	49217713	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	10413090	49217713	193981660	31	110778											
C2orf78	388960	broad.mit.edu	37	chr2	74042217	74042217	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgatggaaacttccctgggGatggatacttccctgggatt	13	8	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:74042217G>T	uc002sjr.1	+	3	988	c.867G>T	c.(865-867)GGG>GGT	p.G289G		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	289										ovary(2)	2						CTTCCCTGGGGATGGATACTT	0.483													T	74042217	G	T	74042217	2	4	201	1	0	0	0	0	0	0	0	1	2195	1161	41	5		5	C2orf78	2	74042217	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	24824504	74042217	169157156	32	110779											
RANBP2	5903	broad.mit.edu	37	chr2	109367808	109367808	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctttacctggaatccgAaaatggctaaaacagctttt	7	10	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:109367808A>G	uc002tem.3	+	10	1488	c.1362A>G	c.(1360-1362)CGA>CGG	p.R454R		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	454					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						CTGGAATCCGAAAATGGCTAA	0.393													G	109367808	A	G	109367808	2	3	201	1	0	0	0	0	0	0	0	1	13028	233	9	3		3	RANBP2	2	109367808	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	35325591	109367808	133831565	33	110780											
GTDC1	79712	broad.mit.edu	37	chr2	144728242	144728242	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggacatctgtgaaggtttcTccaagtacagacacgtggaa	12	8	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:144728242T>A	uc002tvp.2	-	8	1242	c.963A>T	c.(961-963)GGA>GGT	p.G321G	GTDC1_uc002tvo.2_Silent_p.G321G|GTDC1_uc002tvq.2_Silent_p.G203G|GTDC1_uc002tvr.2_Intron|GTDC1_uc010fnn.2_Silent_p.G321G|GTDC1_uc002tvs.2_Silent_p.G289G|GTDC1_uc010fno.2_Silent_p.G192G	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	321					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGAAGGTTTCTCCAAGTACAG	0.343													A	144728242	T	A	144728242	2	1	201	1	0	0	0	0	0	0	0	1	6851	1538	54	5		5	GTDC1	2	144728242	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	35360434	144728242	98471131	34	110781											
ZEB2	9839	broad.mit.edu	37	chr2	145156551	145156551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgttatggagtccatagGttttacaggagacctgggta	13	5	0	2	rs144154908		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:145156551G>A	uc002tvu.2	-	8	2683	c.2203C>T	c.(2203-2205)CCT>TCT	p.P735S	ZEB2_uc002tvv.2_Missense_Mutation_p.P729S|ZEB2_uc010zbm.1_Missense_Mutation_p.P706S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P764S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	735						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTCCATAGGTTTTACAGGA	0.453													A	145156551	G	A	145156551	3	1	201	1	0	0	0	0	1	0	0	0	17621	1261	44	4	1453	4	ZEB2	2	145156551	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	428309	145156551	98042822	35	110782											
NEB	4703	broad.mit.edu	37	chr2	152397971	152397971	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttacctgactctgaAgcttctgccctcgcttggct	9	14	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:152397971A>C	uc010fnx.2	-	108	15760	c.15569T>G	c.(15568-15570)CTT>CGT	p.L5190R	NEB_uc002txr.2_Missense_Mutation_p.L1613R	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5190	Nebulin 141.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGACTCTGAAGCTTCTGCCC	0.512													C	152397971	A	C	152397971	3	2	201	1	0	0	0	0	1	0	0	0	10302	72	3	5	5202	5	NEB	2	152397971	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	7241420	152397971	90801402	36	110783											
XIRP2	129446	broad.mit.edu	37	chr2	167992437	167992437	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtggaaattgagcgaAgtttgtgctcgccagctttt	13	6	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:167992437A>C	uc002udx.2	+	2	445	c.427A>C	c.(427-429)AGT>CGT	p.S143R	XIRP2_uc010fpn.2_Missense_Mutation_p.S143R|XIRP2_uc010fpo.2_Missense_Mutation_p.S143R|XIRP2_uc010fpp.2_Missense_Mutation_p.S143R|XIRP2_uc002udy.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATTGAGCGAAGTTTGTGCTC	0.423													C	167992437	A	C	167992437	3	2	201	1	0	0	0	0	1	0	0	0	17427	72	3	5	433	5	XIRP2	2	167992437	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	15594466	167992437	75206936	37	110784											
XIRP2	129446	broad.mit.edu	37	chr2	168101561	168101561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctagttcagaggaagtttTgaaaaagatcaaaaccttaa	7	5	3	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:168101561T>C	uc002udx.2	+	8	3677	c.3659T>C	c.(3658-3660)TTG>TCG	p.L1220S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1045S|XIRP2_uc010fpq.2_Missense_Mutation_p.L998S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1045					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAGGAAGTTTTGAAAAAGATC	0.313													C	168101561	T	C	168101561	3	2	201	1	0	0	0	0	1	0	0	0	17427	1821	63	3	3689	3	XIRP2	2	168101561	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	109124	168101561	75097812	38	110785											
NOSTRIN	115677	broad.mit.edu	37	chr2	169707670	169707670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccaacatatttctcTttttggccaaaccctgacca	5	13	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:169707670T>C	uc002ueg.2	+	9	711	c.707T>C	c.(706-708)CTT>CCT	p.L236P	NOSTRIN_uc002uef.2_Missense_Mutation_p.L293P|NOSTRIN_uc002uei.2_Missense_Mutation_p.L119P|NOSTRIN_uc010fpu.2_Missense_Mutation_p.L208P|NOSTRIN_uc002ueh.2_Missense_Mutation_p.L158P|NOSTRIN_uc002uej.2_Missense_Mutation_p.L119P	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	236					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						CATATTTCTCTTTTTGGCCAA	0.408													C	169707670	T	C	169707670	3	2	201	1	0	0	0	0	1	0	0	0	10546	1609	56	3	916	3	NOSTRIN	2	169707670	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	1606109	169707670	73491703	39	110786											
ZNF804A	91752	broad.mit.edu	37	chr2	185803164	185803164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaagcacatgtcagtgGtcatacttttgtaacagctg	9	8	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:185803164G>A	uc002uph.2	+	4	3635	c.3041G>A	c.(3040-3042)GGT>GAT	p.G1014D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1014						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CATGTCAGTGGTCATACTTTT	0.398													A	185803164	G	A	185803164	3	1	201	1	0	0	0	0	1	0	0	0	18167	1261	44	4	3055	4	ZNF804A	2	185803164	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	16095494	185803164	57396209	40	110787											
PLCL1	5334	broad.mit.edu	37	chr2	198949309	198949309	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggatatatgcttagacatCataaggagatacgaactttc	9	6	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:198949309C>T	uc010fsp.2	+	2	1359	c.1068C>T	c.(1066-1068)ATC>ATT	p.I356I	PLCL1_uc002uuv.3_Silent_p.I277I	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	356					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	GCTTAGACATCATAAGGAGAT	0.373													T	198949309	C	T	198949309	2	4	201	1	0	0	0	0	0	0	0	1	12039	816	29	4		4	PLCL1	2	198949309	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	13146145	198949309	44250064	41	110788											
PLCL1	5334	broad.mit.edu	37	chr2	198949329	198949329	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cataaggagatacgaactttCtgaagagggacgtcaaaaag	11	6	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:198949329C>G	uc010fsp.2	+	2	1379	c.1088C>G	c.(1087-1089)TCT>TGT	p.S363C	PLCL1_uc002uuv.3_Missense_Mutation_p.S284C	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	363					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TACGAACTTTCTGAAGAGGGA	0.398													G	198949329	C	G	198949329	3	3	201	1	0	0	0	0	1	0	0	0	12039	913	32	5	1094	5	PLCL1	2	198949329	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	20	198949329	44250044	42	110789											
MAP2	4133	broad.mit.edu	37	chr2	210557512	210557512	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccagagacaactaaaacTtaccctgataaaaaggacat	6	10	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:210557512T>G	uc002vde.1	+	7	866	c.618T>G	c.(616-618)ACT>ACG	p.T206T	MAP2_uc002vdc.1_Silent_p.T206T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T202T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	206					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CAACTAAAACTTACCCTGATA	0.458													G	210557512	T	G	210557512	2	3	201	1	0	0	0	0	0	0	0	1	9235	1596	56	5		5	MAP2	2	210557512	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	11608183	210557512	32641861	43	110790											
ABCA12	26154	broad.mit.edu	37	chr2	215891609	215891609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtaaggaatataaggaCtatttgctgatatatttaag	8	4	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:215891609C>A	uc002vew.2	-	10	1335	c.1115G>T	c.(1114-1116)AGT>ATT	p.S372I	ABCA12_uc002vev.2_Missense_Mutation_p.S54I|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	372					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		AATATAAGGACTATTTGCTGA	0.348													A	215891609	C	A	215891609	3	1	201	1	0	0	0	0	1	0	0	0	30	565	20	5	6848	5	ABCA12	2	215891609	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	5334097	215891609	27307764	44	110791											
RHBDD1	84236	broad.mit.edu	37	chr2	227729651	227729651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctgatgattggcattTgtatttcaatatggcatcca	8	8	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:227729651T>C	uc002voi.2	+	2	363	c.242T>C	c.(241-243)TTG>TCG	p.L81S	RHBDD1_uc010fxc.2_Missense_Mutation_p.L81S	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	81						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GATTGGCATTTGTATTTCAAT	0.433													C	227729651	T	C	227729651	3	2	201	1	0	0	0	0	1	0	0	0	13316	1821	63	3	244	3	RHBDD1	2	227729651	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	11838042	227729651	15469722	45	110792											
SPHKAP	80309	broad.mit.edu	37	chr2	228882341	228882341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctggaggccttcagccGgctccacctgtcgccactca	11	17	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr2:228882341G>A	uc002vpq.2	-	7	3276	c.3229C>T	c.(3229-3231)CGG>TGG	p.R1077W	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1077W|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1077W	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1077						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		GCCTTCAGCCGGCTCCACCTG	0.597													A	228882341	G	A	228882341	3	1	201	1	0	0	0	0	1	0	0	0	15047	1115	39	1	1897	1	SPHKAP	2	228882341	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	1152690	228882341	14317032	46	110793											
LRRN1	57633	broad.mit.edu	37	chr3	3887829	3887829	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagatacacatgtgttgccCagaatgtccaaggggcagac	12	9	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:3887829C>G	uc003bpt.3	+	2	2265	c.1504C>G	c.(1504-1506)CAG>GAG	p.Q502E	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	502	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATGTGTTGCCCAGAATGTCCA	0.433													G	3887829	C	G	3887829	3	3	201	1	0	0	0	0	1	0	0	0	9034	595	21	5	1506	5	LRRN1	3	3887829	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08		3887829	194134601	47	110794											
ENTPD3	956	broad.mit.edu	37	chr3	40429568	40429568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttcactgtgctgacccGccaaccatgtgagcaagcag	11	12	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:40429568G>A	uc003ckd.3	+	2	112	c.20G>A	c.(19-21)CGC>CAC	p.R7H	ENTPD3_uc010hhy.2_Missense_Mutation_p.R7H	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	7	Cytoplasmic (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTGCTGACCCGCCAACCATGT	0.512													A	40429568	G	A	40429568	3	1	201	1	0	0	0	0	1	0	0	0	5140	1087	38	1	22	1	ENTPD3	3	40429568	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	36541739	40429568	157592862	48	110795											
MYL3	4634	broad.mit.edu	37	chr3	46899746	46899746	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacgaggtttagctggacatGatgtgcttcacaaatgctgg	12	8	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:46899746G>T	uc003cql.1	-	6	669	c.576C>A	c.(574-576)ATC>ATA	p.I192I		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	192	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		AGCTGGACATGATGTGCTTCA	0.597													T	46899746	G	T	46899746	2	4	201	1	0	0	0	0	0	0	0	1	10048	1280	45	5		5	MYL3	3	46899746	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	6470178	46899746	151122684	49	110796											
ERC2	26059	broad.mit.edu	37	chr3	56026192	56026192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccttgccacactcgtcGcggtagtaagacgcctcttt	11	13	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:56026192G>A	uc003dhr.1	-	11	2404	c.2148C>T	c.(2146-2148)CGC>CGT	p.R716R	ERC2_uc003dht.1_Silent_p.R199R	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	716	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CACACTCGTCGCGGTAGTAAG	0.478													A	56026192	G	A	56026192	2	1	201	1	0	0	0	0	0	0	0	1	5211	1074	38	1		1	ERC2	3	56026192	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	9126446	56026192	141996238	50	110797											
GPR27	2850	broad.mit.edu	37	chr3	71803291	71803291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagcctgctgctgtgcGtgagcctagcgggcaacgtg	15	13	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:71803291G>A	uc011bge.1	+	1	91	c.91G>A	c.(91-93)GTG>ATG	p.V31M	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	31	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GCTGCTGTGCGTGAGCCTAGC	0.731													A	71803291	G	A	71803291	3	1	201	1	0	0	0	0	1	0	0	0	6685	1145	40	1	93	1	GPR27	3	71803291	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	15777099	71803291	126219139	51	110798											
CNTN3	5067	broad.mit.edu	37	chr3	74349045	74349045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttatcacaagttcagaccGgcttccgcctcctccattga	8	14	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:74349045G>A	uc003dpm.1	-	16	2220	c.2140C>T	c.(2140-2142)CGG>TGG	p.R714W		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	714	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		AGTTCAGACCGGCTTCCGCCT	0.438													A	74349045	G	A	74349045	3	1	201	1	0	0	0	0	1	0	0	0	3642	1115	39	1	974	1	CNTN3	3	74349045	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	2545754	74349045	123673385	52	110799											
STX19	415117	broad.mit.edu	37	chr3	93733918	93733918	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccaaatttttgaacattatCtgccaaattgttaatacttt	3	8	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:93733918C>A	uc003drh.1	-	2	453	c.196G>T	c.(196-198)GAT>TAT	p.D66Y	ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	syntaxin 19	66					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity				0						TGAACATTATCTGCCAAATTG	0.373													A	93733918	C	A	93733918	3	1	201	1	0	0	0	0	1	0	0	0	15341	913	32	5	692	5	STX19	3	93733918	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	19384873	93733918	104288512	53	110800											
EPHA6	285220	broad.mit.edu	37	chr3	97124019	97124019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccctgataggtgtggtaagGaaggactgggcatcccaaaa	13	8	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:97124019G>T	uc010how.1	+	6	1675	c.1632G>T	c.(1630-1632)AGG>AGT	p.R544S		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	449	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GTGTGGTAAGGAAGGACTGGG	0.398													T	97124019	G	T	97124019	3	4	201	1	0	0	0	0	1	0	0	0	5171	1165	41	5	1654	5	EPHA6	3	97124019	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3390101	97124019	100898411	54	110801											
OR5H1	26341	broad.mit.edu	37	chr3	97852410	97852410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttaaatcctatcatctAcagtctgagaaataagcaag	6	7	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:97852410A>G	uc011bgt.1	+	1	869	c.869A>G	c.(868-870)TAC>TGC	p.Y290C		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CCTATCATCTACAGTCTGAGA	0.343													G	97852410	A	G	97852410	3	3	201	1	0	0	0	0	1	0	0	0	11159	391	14	3	871	3	OR5H1	3	97852410	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	728391	97852410	100170020	55	110802											
ST3GAL6	10402	broad.mit.edu	37	chr3	98507289	98507289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcttcattttccaaaAgtgtttcccaaaaatcaggt	6	9	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:98507289A>C	uc003dsz.2	+	8	974	c.738A>C	c.(736-738)AAA>AAC	p.K246N	ST3GAL6_uc003dsy.2_Missense_Mutation_p.K160N|ST3GAL6_uc003dta.2_Missense_Mutation_p.K128N|ST3GAL6_uc003dtb.2_Missense_Mutation_p.K102N|ST3GAL6_uc003dtc.2_Missense_Mutation_p.K246N|ST3GAL6_uc010hpd.2_Missense_Mutation_p.K299N	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	246	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						ATTTTCCAAAAGTGTTTCCCA	0.378													C	98507289	A	C	98507289	3	2	201	1	0	0	0	0	1	0	0	0	15218	69	3	5	764	5	ST3GAL6	3	98507289	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	654879	98507289	99515141	56	110803											
LSAMP	4045	broad.mit.edu	37	chr3	115571349	115571349	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttcacagtgaccttgacTtgtttgacatccgccgagga	10	11	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:115571349T>C	uc003ebt.2	-	4	1130	c.630A>G	c.(628-630)CAA>CAG	p.Q210Q	LSAMP_uc011bis.1_Silent_p.Q210Q	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	210	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		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)		TGACCTTGACTTGTTTGACAT	0.527													C	115571349	T	C	115571349	2	2	201	1	0	0	0	0	0	0	0	1	9048	1606	56	3		3	LSAMP	3	115571349	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	17064060	115571349	82451081	57	110804											
MYLK	4638	broad.mit.edu	37	chr3	123419605	123419605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggtctttgtactcacctTcttccccaggaggtctcgga	10	12	4	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:123419605T>G	uc003ego.2	-	18	2992	c.2710A>C	c.(2710-2712)AAG>CAG	p.K904Q	MYLK_uc011bjw.1_Missense_Mutation_p.K904Q|MYLK_uc003egp.2_Missense_Mutation_p.K835Q|MYLK_uc003egq.2_Missense_Mutation_p.K904Q|MYLK_uc003egr.2_Missense_Mutation_p.K835Q|MYLK_uc003egs.2_Missense_Mutation_p.K728Q|MYLK_uc003egt.2_Missense_Mutation_p.K95Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	904	1-2.|5 X 28 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			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTACTCACCTTCTTCCCCAGG	0.602													G	123419605	T	G	123419605	3	3	201	1	0	0	0	0	1	0	0	0	10056	1792	62	5	3102	5	MYLK	3	123419605	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	7848256	123419605	74602825	58	110805											
ATR	545	broad.mit.edu	37	chr3	142234270	142234270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacctgcccaagatgctgaCcattctgcaaagttactacc	6	13	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:142234270C>A	uc003eux.3	-	25	4592	c.4470G>T	c.(4468-4470)TGG>TGT	p.W1490C		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1490					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			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						AAGATGCTGACCATTCTGCAA	0.358								Other_conserved_DNA_damage_response_genes					A	142234270	C	A	142234270	3	1	201	1	0	0	0	0	1	0	0	0	1204	508	18	5	3556	5	ATR	3	142234270	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	18814665	142234270	55788160	59	110806											
TRIM59	286827	broad.mit.edu	37	chr3	160156416	160156416	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagctccttaaaatactggaGaacagcttccttatcgcctt	6	11	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:160156416G>C	uc003fdm.2	-	3	751	c.556C>G	c.(556-558)CTC>GTC	p.L186V	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	186	Potential.					integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAATACTGGAGAACAGCTTCC	0.353													C	160156416	G	C	160156416	3	2	201	1	0	0	0	0	1	0	0	0	16529	942	33	5	659	5	TRIM59	3	160156416	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	17922146	160156416	37866014	60	110807											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	201	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	18779675	178936091	19086339	61	110808											
HTR3D	200909	broad.mit.edu	37	chr3	183756164	183756164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaattctaggtggcgcCtctggccctcatgcagaccc	10	14	3	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:183756164C>T	uc011bqv.1	+	7	887	c.887C>T	c.(886-888)CCT>CTT	p.P296L	HTR3D_uc003fmj.2_Intron|HTR3D_uc011bqu.1_Intron|HTR3D_uc010hxp.2_Intron	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	296	Extracellular (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGGTGGCGCCTCTGGCCCTC	0.567													T	183756164	C	T	183756164	3	4	201	1	0	0	0	0	1	0	0	0	7447	681	24	4	1083	4	HTR3D	3	183756164	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	4820073	183756164	14266266	62	110809											
LMLN	89782	broad.mit.edu	37	chr3	197710878	197710878	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctcaggagtttgttGggatgctgtccacagtgaaa	12	10	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr3:197710878G>C	uc011buo.1	+	7	815	c.793G>C	c.(793-795)GGG>CGG	p.G265R	LMLN_uc003fyt.2_Missense_Mutation_p.G213R|LMLN_uc010iar.2_Missense_Mutation_p.G265R|LMLN_uc010ias.2_Missense_Mutation_p.G213R|LMLN_uc003fyu.2_Missense_Mutation_p.G25R	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	265					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	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)		GGAGTTTGTTGGGATGCTGTC	0.398													C	197710878	G	C	197710878	3	2	201	1	0	0	0	0	1	0	0	0	8847	1348	47	5	819	5	LMLN	3	197710878	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	13954714	197710878	311552	63	110810											
JAKMIP1	152789	broad.mit.edu	37	chr4	6086631	6086631	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccagcttccgtatcactGaattcagttcagcaattttt	5	11	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:6086631G>T	uc003giu.3	-	5	1172	c.896C>A	c.(895-897)TCA>TAA	p.S299*	JAKMIP1_uc010idb.1_Nonsense_Mutation_p.S299*|JAKMIP1_uc010idc.1_Nonsense_Mutation_p.S134*|JAKMIP1_uc010idd.1_Nonsense_Mutation_p.S299*|JAKMIP1_uc011bwc.1_Nonsense_Mutation_p.S134*|JAKMIP1_uc003giv.3_Nonsense_Mutation_p.S299*|JAKMIP1_uc010ide.2_Nonsense_Mutation_p.S299*	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	299	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CCGTATCACTGAATTCAGTTC	0.408													T	6086631	G	T	6086631	4	4	201	1	0	0	0	0	0	1	0	0	7940	1294	45	5	1742	5	JAKMIP1	4	6086631	Nonsense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		6086631	185067645	64	110811											
SLC2A9	56606	broad.mit.edu	37	chr4	10023015	10023015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgtgaggggaactagGcccagttccttggaattcct	11	10	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:10023015G>A	uc003gmc.2	-	1	100	c.39C>T	c.(37-39)GGC>GGT	p.G13G	SLC2A9_uc003gmd.2_Intron	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	13	Cytoplasmic (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						GGGGAACTAGGCCCAGTTCCT	0.602													A	10023015	G	A	10023015	2	1	201	1	0	0	0	0	0	0	0	1	14552	1190	42	2		2	SLC2A9	4	10023015	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3936384	10023015	181131261	65	110812											
YIPF7	285525	broad.mit.edu	37	chr4	44624465	44624465	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcaaaaagtccataaAgtatggcacaagggtaggca	14	6	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:44624465A>T	uc010ifx.1	-	6	826	c.809T>A	c.(808-810)CTT>CAT	p.L270H		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	270	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0						AAGTCCATAAAGTATGGCACA	0.408													T	44624465	A	T	44624465	3	4	201	1	0	0	0	0	1	0	0	0	17480	72	3	5	37	5	YIPF7	4	44624465	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	34601450	44624465	146529811	66	110813											
SCFD2	152579	broad.mit.edu	37	chr4	54232054	54232054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcccgtttcactttggCcagcacctgctcccatcctt	6	18	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:54232054C>T	uc003gzu.2	-	1	189	c.55G>A	c.(55-57)GCC>ACC	p.A19T	SCFD2_uc010igm.2_Missense_Mutation_p.A19T	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	19					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCACTTTGGCCAGCACCTGC	0.632													T	54232054	C	T	54232054	3	4	201	1	0	0	0	0	1	0	0	0	13890	739	26	2	2035	2	SCFD2	4	54232054	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	9607589	54232054	136922222	67	110814											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006001	118006001	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttttggttttctggaagtaGagttcaggaaaagcatgaaa	11	3	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:118006001G>C	uc003ibv.3	-	1	736	c.549C>G	c.(547-549)CTC>CTG	p.L183L		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	183	Helical; (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						TCTGGAAGTAGAGTTCAGGAA	0.403													C	118006001	G	C	118006001	2	2	201	1	0	0	0	0	0	0	0	1	16449	929	33	5		5	TRAM1L1	4	118006001	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	63773947	118006001	73148275	68	110815											
FAT4	79633	broad.mit.edu	37	chr4	126239277	126239277	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatgcccagcttgtagtaActctcctagatgtgaatgat	8	10	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:126239277A>C	uc003ifj.3	+	1	1711	c.1711A>C	c.(1711-1713)ACT>CCT	p.T571P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	571	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GCTTGTAGTAACTCTCCTAGA	0.502											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	126239277	A	C	126239277	3	2	201	1	0	0	0	0	1	0	0	0	5692	43	2	5	1713	5	FAT4	4	126239277	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	8233276	126239277	64914999	69	110816											
FAT4	79633	broad.mit.edu	37	chr4	126372259	126372259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttctggaattcttgatcGagaaaaagaagaaagggtgt	12	3	2	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:126372259G>A	uc003ifj.3	+	9	10088	c.10088G>A	c.(10087-10089)CGA>CAA	p.R3363Q	FAT4_uc011cgp.1_Missense_Mutation_p.R1661Q|FAT4_uc003ifi.1_Missense_Mutation_p.R841Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3363	Cadherin 32.|Extracellular (Potential).			RE -> QK (in Ref. 3; BAE45762).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATTCTTGATCGAGAAAAAGAA	0.398													A	126372259	G	A	126372259	3	1	201	1	0	0	0	0	1	0	0	0	5692	1058	37	1	10122	1	FAT4	4	126372259	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	132982	126372259	64782017	70	110817											
FAT4	79633	broad.mit.edu	37	chr4	126372585	126372585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaattagatcgagaaAcccttcccatctataatctc	5	12	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:126372585A>C	uc003ifj.3	+	9	10414	c.10414A>C	c.(10414-10416)ACC>CCC	p.T3472P	FAT4_uc011cgp.1_Missense_Mutation_p.T1770P|FAT4_uc003ifi.1_Missense_Mutation_p.T950P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3472	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGATCGAGAAACCCTTCCCAT	0.433													C	126372585	A	C	126372585	3	2	201	1	0	0	0	0	1	0	0	0	5692	43	2	5	10448	5	FAT4	4	126372585	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	326	126372585	64781691	71	110818											
FAT4	79633	broad.mit.edu	37	chr4	126411255	126411255	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcctacaggtgtgtcccTcctggggactgtgcctccca	11	14	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:126411255T>C	uc003ifj.3	+	17	13278	c.13278T>C	c.(13276-13278)CCT>CCC	p.P4426P	FAT4_uc011cgp.1_Silent_p.P2667P|FAT4_uc003ifi.1_Silent_p.P1903P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4426	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGTGTGTCCCTCCTGGGGACT	0.602													C	126411255	T	C	126411255	2	2	201	1	0	0	0	0	0	0	0	1	5692	1538	54	3		3	FAT4	4	126411255	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	38670	126411255	64743021	72	110819											
NR3C2	4306	broad.mit.edu	37	chr4	149181165	149181165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaaaactttgcagctgCcacaggtgactaccccataa	8	11	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:149181165C>T	uc003ilj.3	-	3	2196	c.1862G>A	c.(1861-1863)GGC>GAC	p.G621D	NR3C2_uc003ilk.3_Missense_Mutation_p.G621D|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	621	NR C4-type.|Nuclear receptor.				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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTGCAGCTGCCACAGGTGAC	0.408													T	149181165	C	T	149181165	3	4	201	1	0	0	0	0	1	0	0	0	10631	739	26	2	1120	2	NR3C2	4	149181165	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	22769910	149181165	41973111	73	110820											
RXFP1	59350	broad.mit.edu	37	chr4	159568065	159568065	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgtcagcttgtaggaTctttggccattctgtccaca	8	11	4	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:159568065T>G	uc003ipz.2	+	16	1550	c.1468T>G	c.(1468-1470)TCT>GCT	p.S490A	RXFP1_uc011cja.1_Missense_Mutation_p.S385A|RXFP1_uc010iqo.2_Missense_Mutation_p.S442A|RXFP1_uc011cjb.1_Missense_Mutation_p.S388A|RXFP1_uc010iqk.2_Missense_Mutation_p.S358A|RXFP1_uc011cjc.1_Missense_Mutation_p.S409A|RXFP1_uc011cjd.1_Missense_Mutation_p.S409A|RXFP1_uc010iql.2_Missense_Mutation_p.S334A|RXFP1_uc011cje.1_Missense_Mutation_p.S517A|RXFP1_uc010iqm.2_Missense_Mutation_p.S457A|RXFP1_uc011cjf.1_Missense_Mutation_p.S359A|RXFP1_uc010iqn.2_Missense_Mutation_p.S435A	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	490	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GCTTGTAGGATCTTTGGCCAT	0.398													G	159568065	T	G	159568065	3	3	201	1	0	0	0	0	1	0	0	0	13759	1435	50	5	1530	5	RXFP1	4	159568065	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	10386900	159568065	31586211	74	110821											
ADAM29	11086	broad.mit.edu	37	chr4	175896943	175896943	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacacagaccagggtgctatCcttgaggaccagccatttgt	10	11	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr4:175896943C>T	uc003iuc.2	+	5	937	c.267C>T	c.(265-267)ATC>ATT	p.I89I	ADAM29_uc003iud.2_Silent_p.I89I|ADAM29_uc010irr.2_Silent_p.I89I|ADAM29_uc011cki.1_Silent_p.I89I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	89					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		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)		AGGGTGCTATCCTTGAGGACC	0.478													T	175896943	C	T	175896943	2	4	201	1	0	0	0	0	0	0	0	1	247	845	30	4		4	ADAM29	4	175896943	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	16328878	175896943	15257333	75	110822											
ADCY2	108	broad.mit.edu	37	chr5	7707861	7707861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggagcacttgaatggCgcttataaagtggaggaggg	15	7	0	1	rs112493968	byFrequency	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:7707861C>T	uc003jdz.1	+	9	1378	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	ADCY2_uc011cmo.1_Silent_p.G257G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	437	Cytoplasmic (Potential).				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			ovary(5)|pancreas(1)|skin(1)	7						ACTTGAATGGCGCTTATAAAG	0.413													T	7707861	C	T	7707861	2	4	201	1	0	0	0	0	0	0	0	1	294	755	27	1		1	ADCY2	5	7707861	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08		7707861	173207399	76	110823											
CTNND2	1501	broad.mit.edu	37	chr5	11236905	11236905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacatctgaatcacttcCggcagttccgggtctctcca	8	14	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:11236905C>T	uc003jfa.1	-	10	1804	c.1659G>A	c.(1657-1659)CCG>CCA	p.P553P	CTNND2_uc010itt.2_Silent_p.P462P|CTNND2_uc011cmy.1_Silent_p.P216P|CTNND2_uc011cmz.1_Silent_p.P120P|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.P120P	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	553	ARM 2.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GAATCACTTCCGGCAGTTCCG	0.478													T	11236905	C	T	11236905	2	4	201	1	0	0	0	0	0	0	0	1	4020	639	23	1		1	CTNND2	5	11236905	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	3529044	11236905	169678355	77	110824											
BRIX1	55299	broad.mit.edu	37	chr5	34922876	34922876	+	Splice_Site	DEL	A	A	-													cttttgtcttttgaccctgtAagtttctcattcagtgtatg							TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:34922875_34922875TA>T	uc003jja.3	+	6	534	c.510_splice	c.e6+2	p.P170_splice	BRIX1_uc011col.1_Frame_Shift_Del_p.V171fs	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	170	Brix.				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTTGACCCTGTAAGTTTCTCA	0.368													-	34922876	A	-	34922876	8	5	201	1	0	1	0	1	0	0	1	0	1515	377	13	0		0	BRIX1	5	34922876	Splice_Site	DEL	A	TCGA-D7-5578-01A-01D-1600-08	23685971	34922876	145992384	78	110825											
GHR	2690	broad.mit.edu	37	chr5	42719406	42719406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagactatacctccattcaTatagtacagtccccacaggg	6	14	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:42719406T>C	uc003jmt.2	+	10	1840	c.1797T>C	c.(1795-1797)CAT>CAC	p.H599H	GHR_uc011cpq.1_Silent_p.H412H	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	599	Cytoplasmic (Potential).				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			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTCCATTCATATAGTACAGT	0.517													C	42719406	T	C	42719406	2	2	201	1	0	0	0	0	0	0	0	1	6371	1403	49	3		3	GHR	5	42719406	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	7796530	42719406	138195854	79	110826											
FAM169A	26049	broad.mit.edu	37	chr5	74135907	74135907	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaaaaagagacctgtcagtGaatcttcaggtgcaaagaga	11	7	3	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:74135907G>A	uc003kdm.2	-	3	267	c.224C>T	c.(223-225)TCA>TTA	p.S75L	FAM169A_uc010izm.2_Missense_Mutation_p.S75L|FAM169A_uc003kdl.2_5'UTR	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	75											0						ACCTGTCAGTGAATCTTCAGG	0.338													A	74135907	G	A	74135907	3	1	201	1	0	0	0	0	1	0	0	0	5487	1294	45	4	1832	4	FAM169A	5	74135907	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	31416501	74135907	106779353	80	110827											
BHMT	635	broad.mit.edu	37	chr5	78417157	78417157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttgcatggcgtgcccccCggcgagtgtgcagtgcgcct	15	13	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:78417157C>T	uc003kfu.3	+	5	699	c.594C>T	c.(592-594)CCC>CCT	p.P198P	BHMT_uc011cti.1_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	198	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCGTGCCCCCCGGCGAGTGTG	0.488													T	78417157	C	T	78417157	2	4	201	1	0	0	0	0	0	0	0	1	1425	639	23	1		1	BHMT	5	78417157	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	4281250	78417157	102498103	81	110828											
CMYA5	202333	broad.mit.edu	37	chr5	79026957	79026957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggacctaggaagtgaacGtttcacaccggattcaaagt	11	8	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:79026957G>A	uc003kgc.2	+	2	2441	c.2369G>A	c.(2368-2370)CGT>CAT	p.R790H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	790						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		GGAAGTGAACGTTTCACACCG	0.453													A	79026957	G	A	79026957	3	1	201	1	0	0	0	0	1	0	0	0	3590	1145	40	1	2375	1	CMYA5	5	79026957	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	609800	79026957	101888303	82	110829											
CMYA5	202333	broad.mit.edu	37	chr5	79031339	79031339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgctgatgaacccagaGgtactttagtaaaatctggt	9	7	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:79031339G>A	uc003kgc.2	+	2	6823	c.6751G>A	c.(6751-6753)GGT>AGT	p.G2251S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2251						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		TGAACCCAGAGGTACTTTAGT	0.348													A	79031339	G	A	79031339	3	1	201	1	0	0	0	0	1	0	0	0	3590	1000	35	4	6757	4	CMYA5	5	79031339	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	4382	79031339	101883921	83	110830											
CHD1	1105	broad.mit.edu	37	chr5	98262168	98262168	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaatataaatactgactccTtgaatataaaaattcacaga	4	6	1	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:98262168T>A	uc003knf.2	-	1	71	c.-77A>T	c.(-79--75)CAAGG>CATGG			NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 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			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		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)	TACTGACTCCTTGAATATAAA	0.259													A	98262168	T	A	98262168	1	1	201	1	0	0	0	0	0	0	0	0	3323	1624	56	5		5	CHD1	5	98262168	Translation_Start_Site	SNP	T	TCGA-D7-5578-01A-01D-1600-08	19230829	98262168	82653092	84	110831											
EPB41L4A	64097	broad.mit.edu	37	chr5	111500702	111500702	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggatcaagtctctgtcttGaggcgggaagcttgtatagt	13	7	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:111500702G>A	uc003kpv.1	-	23	2320	c.2046C>T	c.(2044-2046)CTC>CTT	p.L682L	EPB41L4A_uc003kpp.1_Intron|EPB41L4A_uc003kpu.1_RNA	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	682						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		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)		TCTCTGTCTTGAGGCGGGAAG	0.428													A	111500702	G	A	111500702	2	1	201	1	0	0	0	0	0	0	0	1	5155	1277	45	4		4	EPB41L4A	5	111500702	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	13238534	111500702	69414558	85	110832											
APC	324	broad.mit.edu	37	chr5	112174378	112174378	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccaataaattatagtctTaaatattcagatgagcagtt	5	6	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:112174378T>G	uc010jby.2	+	16	3467	c.3087T>G	c.(3085-3087)CTT>CTG	p.L1029L	APC_uc011cvt.1_Silent_p.L1011L|APC_uc003kpz.3_Silent_p.L1029L|APC_uc003kpy.3_Silent_p.L1029L|APC_uc010jbz.2_Silent_p.L746L|APC_uc010jca.2_Silent_p.L329L	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1029	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				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)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		ATTATAGTCTTAAATATTCAG	0.358		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			G	112174378	T	G	112174378	2	3	201	1	0	0	0	0	0	0	0	1	763	1741	61	5		5	APC	5	112174378	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	673676	112174378	68740882	86	110833											
SRP19	6728	broad.mit.edu	37	chr5	112197085	112197085	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgaagatggcttgcgcTgccgcgcggtccccggccga	15	14	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:112197085T>A	uc003kqc.2	+	1	93	c.12T>A	c.(10-12)GCT>GCA	p.A4A	SRP19_uc003kqb.1_Silent_p.A4A|SRP19_uc011cvu.1_5'UTR|SRP19_uc011cvv.1_5'UTR	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	4					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TGGCTTGCGCTGCCGCGCGGT	0.532													A	112197085	T	A	112197085	2	1	201	1	0	0	0	0	0	0	0	1	15153	1567	55	5		5	SRP19	5	112197085	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	22707	112197085	68718175	87	110834											
FBXL21	26223	broad.mit.edu	37	chr5	135276812	135276812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttccttgcactctcaagcGagactcatgttaaccttgaa	6	11	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:135276812G>A	uc010jec.1	+	5	778	c.757G>A	c.(757-759)GAG>AAG	p.E253K	FBXL21_uc003lbc.2_RNA	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	253	LRR 4.				rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTCAAGCGAGACTCATGT	0.398													A	135276812	G	A	135276812	3	1	201	1	0	0	0	0	1	0	0	0	5718	1059	37	1	771	1	FBXL21	5	135276812	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	23079727	135276812	45638448	88	110835											
PKD2L2	27039	broad.mit.edu	37	chr5	137226241	137226245	+	Frame_Shift_Del	DEL	TACTT	TACTT	-													cacttcaggaattgttactcTactttatttttttaataaac							TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:137226241_137226245delTACTT	uc003lby.2	+	2	159_163	c.103_107delTACTT	c.(103-108)TACTTTfs	p.Y35fs	PKD2L2_uc010jep.1_5'UTR|PKD2L2_uc003lbw.1_Frame_Shift_Del_p.Y35fs|PKD2L2_uc003lbx.2_Frame_Shift_Del_p.Y35fs	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	35_36	Helical; (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTGTTACTCTACTTTATTTTTTTA	0.283													-	137226245	TACTT	-	137226241	7	5	201	1	0	1	0	1	0	0	0	0	11968	1522	53	0	109	0	PKD2L2	5	137226241	Frame_Shift_Del	DEL	TACTT	TCGA-D7-5578-01A-01D-1600-08	1949429	137226241	43689019	89	110836											
PCDHA3	56145	broad.mit.edu	37	chr5	140182291	140182291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgggtgggggagcgcgcGctgtcgagctacgtgtcggt	21	10	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:140182291G>A	uc003lhf.2	+	1	1509	c.1509G>A	c.(1507-1509)GCG>GCA	p.A503A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A503A	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCGCGCGCTGTCGAGCT	0.682													A	140182291	G	A	140182291	2	1	201	1	0	0	0	0	0	0	0	1	11525	1074	38	1		1	PCDHA3	5	140182291	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	2956050	140182291	40732969	90	110837											
PCDHA10	56139	broad.mit.edu	37	chr5	140236909	140236909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagctggtggtgaccGcgcgggacgggggctcgcct	18	12	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:140236909G>A	uc003lhx.2	+	1	1276	c.1276G>A	c.(1276-1278)GCG>ACG	p.A426T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A426T|PCDHA10_uc011dad.1_Missense_Mutation_p.A426T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	426	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCGCGGGACGG	0.647													A	140236909	G	A	140236909	3	1	201	1	0	0	0	0	1	0	0	0	11520	1087	38	1	1278	1	PCDHA10	5	140236909	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	54618	140236909	40678351	91	110838											
PCDHA10	56139	broad.mit.edu	37	chr5	140237036	140237036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtgaaggagaacaaccCgccaggctgccacatcttca	10	13	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:140237036C>T	uc003lhx.2	+	1	1403	c.1403C>T	c.(1402-1404)CCG>CTG	p.P468L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.P468L|PCDHA10_uc011dad.1_Missense_Mutation_p.P468L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	468	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACAACCCGCCAGGCTGC	0.667													T	140237036	C	T	140237036	3	4	201	1	0	0	0	0	1	0	0	0	11520	652	23	1	1405	1	PCDHA10	5	140237036	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	127	140237036	40678224	92	110839											
PCDHB13	56123	broad.mit.edu	37	chr5	140594941	140594941	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagacagagaaagcagagcgGaatacaacatcactatcact	8	9	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:140594941G>C	uc003lja.1	+	1	1433	c.1246G>C	c.(1246-1248)GAA>CAA	p.E416Q		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	416	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCAGAGCGGAATACAACAT	0.488													C	140594941	G	C	140594941	3	2	201	1	0	0	0	0	1	0	0	0	11538	1175	41	5	1248	5	PCDHB13	5	140594941	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	357905	140594941	40320319	93	110840											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734966	140734966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagcgcggagtccgcatcGtctccagaggtaggacgcag	16	12	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:140734966G>A	uc003ljq.1	+	1	199	c.199G>A	c.(199-201)GTC>ATC	p.V67I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V67I	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	67	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGCATCGTCTCCAGAGG	0.652													A	140734966	G	A	140734966	3	1	201	1	0	0	0	0	1	0	0	0	11556	1145	40	1	201	1	PCDHGA4	5	140734966	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	140025	140734966	40180294	94	110841											
GALNT10	55568	broad.mit.edu	37	chr5	153795429	153795429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgccatttcccacacCagccctgtcacgctgtacga	7	15	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr5:153795429C>T	uc003lvh.2	+	11	1722	c.1590C>T	c.(1588-1590)ACC>ACT	p.T530T	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.T371T|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.T201T	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	530	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	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)			TTTCCCACACCAGCCCTGTCA	0.577													T	153795429	C	T	153795429	2	4	201	1	0	0	0	0	0	0	0	1	6208	581	21	4		4	GALNT10	5	153795429	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	13060463	153795429	27119831	95	110842											
SLC22A23	63027	broad.mit.edu	37	chr6	3273341	3273341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgggcagtgtgtcacccGcggctgcggcatcgtggagg	17	13	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:3273341G>A	uc003mvm.3	-	10	2009	c.2009C>T	c.(2008-2010)GCG>GTG	p.A670V	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.A389V|SLC22A23_uc003mvo.3_Missense_Mutation_p.A389V|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	670					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGTGTCACCCGCGGCTGCGGC	0.701													A	3273341	G	A	3273341	3	1	201	1	0	0	0	0	1	0	0	0	14452	1087	38	1	55	1	SLC22A23	6	3273341	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		3273341	167841726	96	110843											
JARID2	3720	broad.mit.edu	37	chr6	15497183	15497183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgctcatctacatcgagtCggtccgcgctcaggtggaga	12	13	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:15497183C>T	uc003nbj.2	+	7	1971	c.1727C>T	c.(1726-1728)TCG>TTG	p.S576L	JARID2_uc011diu.1_Missense_Mutation_p.S440L|JARID2_uc011div.1_Missense_Mutation_p.S404L|JARID2_uc011diw.1_Missense_Mutation_p.S538L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	576	JmjN.				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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TACATCGAGTCGGTCCGCGCT	0.657													T	15497183	C	T	15497183	3	4	201	1	0	0	0	0	1	0	0	0	7945	893	31	1	1753	1	JARID2	6	15497183	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	12223842	15497183	155617884	97	110844											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156642	26156642	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgagactgcgcctgccgcGcccgctgctccggcccctgc	12	21	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:26156642G>T	uc003ngq.2	+	1	84	c.24G>T	c.(22-24)GCG>GCT	p.A8A	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	8					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						CGCCTGCCGCGCCCGCTGCTC	0.692													T	26156642	G	T	26156642	2	4	201	1	0	0	0	0	0	0	0	1	7126	1074	38	5		5	HIST1H1E	6	26156642	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	10659459	26156642	144958425	98	110845											
ABCC10	89845	broad.mit.edu	37	chr6	43400000	43400000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgccaccaggggcaggCccaggacccatagggctaga	14	13	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:43400000C>T	uc003ouy.1	+	3	497	c.282C>T	c.(280-282)GGC>GGT	p.G94G	ABCC10_uc003ouz.1_Silent_p.G51G	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	94						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(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)			CAGGGGCAGGCCCAGGACCCA	0.627													T	43400000	C	T	43400000	2	4	201	1	0	0	0	0	0	0	0	1	50	726	26	2		2	ABCC10	6	43400000	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	17243358	43400000	127715067	99	110846											
BAI3	577	broad.mit.edu	37	chr6	69653817	69653817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaggtcatgcacacctcctCagtatggaggaaggccgtgt	12	11	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:69653817C>G	uc003pev.3	+	6	1574	c.1126C>G	c.(1126-1128)CAG>GAG	p.Q376E	BAI3_uc010kak.2_Missense_Mutation_p.Q376E	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	376	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CACACCTCCTCAGTATGGAGG	0.458													G	69653817	C	G	69653817	3	3	201	1	0	0	0	0	1	0	0	0	1300	827	29	5	1140	5	BAI3	6	69653817	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	26253817	69653817	101461250	100	110847											
BAI3	577	broad.mit.edu	37	chr6	69666609	69666609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatggcggctgggaaaggcGaataaggacctgtcagggtg	18	6	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:69666609G>A	uc003pev.3	+	8	1881	c.1433G>A	c.(1432-1434)CGA>CAA	p.R478Q	BAI3_uc010kak.2_Missense_Mutation_p.R478Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	478	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGGGAAAGGCGAATAAGGACC	0.502													A	69666609	G	A	69666609	3	1	201	1	0	0	0	0	1	0	0	0	1300	1058	37	1	1455	1	BAI3	6	69666609	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	12792	69666609	101448458	101	110848											
MDN1	23195	broad.mit.edu	37	chr6	90371258	90371258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcaccttttcctgatTgccatggtaagggtccacct	9	12	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:90371258T>C	uc003pnn.1	-	88	14721	c.14605A>G	c.(14605-14607)AAT>GAT	p.N4869D		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4869					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		TTTTCCTGATTGCCATGGTAA	0.418													C	90371258	T	C	90371258	3	2	201	1	0	0	0	0	1	0	0	0	9415	1812	63	3	2245	3	MDN1	6	90371258	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	20704649	90371258	80743809	102	110849											
MDN1	23195	broad.mit.edu	37	chr6	90457135	90457135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcccatcggaacagatcacGaagggtgatgaagccctgct	12	11	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:90457135G>A	uc003pnn.1	-	27	3933	c.3817C>T	c.(3817-3819)CGT>TGT	p.R1273C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1273					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		AACAGATCACGAAGGGTGATG	0.463													A	90457135	G	A	90457135	3	1	201	1	0	0	0	0	1	0	0	0	9415	1058	37	1	13277	1	MDN1	6	90457135	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	85877	90457135	80657932	103	110850											
GRIK2	2898	broad.mit.edu	37	chr6	102069961	102069961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatacccagaagataaacCtttatgatagttttgaagca	7	6	0	5	rs143873289	by1000genomes	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:102069961C>A	uc003pqp.3	+	2	502	c.253C>A	c.(253-255)CTT>ATT	p.L85I	GRIK2_uc003pqn.2_Missense_Mutation_p.L85I|GRIK2_uc003pqo.3_Missense_Mutation_p.L85I|GRIK2_uc010kcw.2_Missense_Mutation_p.L85I	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	85	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	GAAGATAAACCTTTATGATAG	0.328													A	102069961	C	A	102069961	3	1	201	1	0	0	0	0	1	0	0	0	6774	681	24	5	259	5	GRIK2	6	102069961	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	11612826	102069961	69045106	104	110851											
TRDN	10345	broad.mit.edu	37	chr6	123786070	123786070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaagggcaggtgatgcCggagtgggtctggaagcttg	17	8	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:123786070C>T	uc003pzj.1	-	10	934	c.912G>A	c.(910-912)CCG>CCA	p.P304P	TRDN_uc003pzk.1_Silent_p.P304P|TRDN_uc003pzl.1_Silent_p.P304P|TRDN_uc010ken.2_Silent_p.P284P|uc003pzm.1_Intron	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	304	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		CAGGTGATGCCGGAGTGGGTC	0.393													T	123786070	C	T	123786070	2	4	201	1	0	0	0	0	0	0	0	1	16465	639	23	1		1	TRDN	6	123786070	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	21716109	123786070	47328997	105	110852											
VNN2	8875	broad.mit.edu	37	chr6	133072431	133072431	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcctgcattttcaaaAagttctgtgaagttgaaccc	8	8	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:133072431A>G	uc003qdt.2	-	5	1064	c.1053T>C	c.(1051-1053)CTT>CTC	p.L351L	VNN2_uc003qds.2_Silent_p.L60L|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.L298L	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	351					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CATTTTCAAAAAGTTCTGTGA	0.383													G	133072431	A	G	133072431	2	3	201	1	0	0	0	0	0	0	0	1	17180	1	1	3		3	VNN2	6	133072431	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	9286361	133072431	38042636	106	110853											
HIVEP2	3097	broad.mit.edu	37	chr6	143095201	143095201	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattgctctttgtcttgaaAgagaaaccacaaggtataca	7	7	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:143095201A>C	uc003qjd.2	-	5	1418	c.675T>G	c.(673-675)TCT>TCG	p.S225S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	225	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTGTCTTGAAAGAGAAACCAC	0.448													C	143095201	A	C	143095201	2	2	201	1	0	0	0	0	0	0	0	1	7187	59	3	5		5	HIVEP2	6	143095201	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	10022770	143095201	28019866	107	110854											
MLLT4	4301	broad.mit.edu	37	chr6	168351867	168351867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctttttctttttgcagcGtgttacacgttcccaagaag	7	9	2	1	rs151265223	byFrequency	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr6:168351867G>A	uc003qwd.2	+	29	3951	c.3809G>A	c.(3808-3810)CGT>CAT	p.R1270H	MLLT4_uc003qwb.1_Missense_Mutation_p.R1255H|MLLT4_uc003qwc.1_Missense_Mutation_p.R1271H|MLLT4_uc003qwg.1_Missense_Mutation_p.R580H	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1271					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		TTTTTGCAGCGTGTTACACGT	0.353			T	MLL	AL								A	168351867	G	A	168351867	3	1	201	1	0	0	0	0	1	0	0	0	9629	1159	40	1	3926	1	MLLT4	6	168351867	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	25256666	168351867	2763200	108	110855											
GPR146	115330	broad.mit.edu	37	chr7	1097720	1097720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaagctgccgacgccaCgctggtgttcatcggctacg	13	14	1	1	rs142169372		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:1097720C>T	uc003sjw.2	+	2	645	c.569C>T	c.(568-570)ACG>ATG	p.T190M	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.T190M|GPR146_uc003sjy.1_Missense_Mutation_p.T190M	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	190	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCGACGCCACGCTGGTGTTC	0.652													T	1097720	C	T	1097720	3	4	201	1	0	0	0	0	1	0	0	0	6652	536	19	1	571	1	GPR146	7	1097720	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08		1097720	158040943	109	110856											
HDAC9	9734	broad.mit.edu	37	chr7	18630090	18630090	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcctcctctcagaggCaaagatagaggacgagaaag	11	10	1	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:18630090C>A	uc003suh.2	+	3	428	c.387C>A	c.(385-387)GGC>GGA	p.G129G	HDAC9_uc003sue.2_Silent_p.G129G|HDAC9_uc011jyd.1_Silent_p.G129G|HDAC9_uc003sui.2_Silent_p.G132G|HDAC9_uc003suj.2_Silent_p.G132G|HDAC9_uc011jya.1_Silent_p.G170G|HDAC9_uc003sua.1_Silent_p.G151G|HDAC9_uc011jyb.1_Silent_p.G129G|HDAC9_uc003sud.1_Silent_p.G129G|HDAC9_uc011jyc.1_Silent_p.G132G|HDAC9_uc003suf.1_Silent_p.G160G|HDAC9_uc010kud.1_Silent_p.G132G|HDAC9_uc011jye.1_Silent_p.G101G|HDAC9_uc011jyf.1_Silent_p.G98G|HDAC9_uc010kue.1_5'UTR	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	129					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|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			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCTCAGAGGCAAAGATAGAG	0.468													A	18630090	C	A	18630090	2	1	201	1	0	0	0	0	0	0	0	1	7014	697	25	5		5	HDAC9	7	18630090	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	17532370	18630090	140508573	110	110857											
DNAH11	8701	broad.mit.edu	37	chr7	21639427	21639427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaataggaagctcttcaaagCcaatccctctctggatacct	6	12	3	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:21639427C>A	uc003svc.2	+	15	2721	c.2690C>A	c.(2689-2691)GCC>GAC	p.A897D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	897	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTCTTCAAAGCCAATCCCTCT	0.338									Kartagener_syndrome				A	21639427	C	A	21639427	3	1	201	1	0	0	0	0	1	0	0	0	4599	739	26	5	2748	5	DNAH11	7	21639427	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	3009337	21639427	137499236	111	110858											
HEPACAM2	253012	broad.mit.edu	37	chr7	92826556	92826556	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcagcttggccattacctGaaaatgtttgagctttcctg	8	9	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:92826556G>T	uc003umm.2	-	7	1222	c.1199C>A	c.(1198-1200)TCA>TAA	p.S400*	HEPACAM2_uc003uml.2_Nonsense_Mutation_p.S388*|HEPACAM2_uc010lff.2_Missense_Mutation_p.Q380K|HEPACAM2_uc011khy.1_Nonsense_Mutation_p.S423*	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	400	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						GCCATTACCTGAAAATGTTTG	0.274													T	92826556	G	T	92826556	4	4	201	1	0	0	0	0	0	1	0	0	7053	1294	45	5	205	5	HEPACAM2	7	92826556	Nonsense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	71187129	92826556	66312107	112	110859											
COL1A2	1278	broad.mit.edu	37	chr7	94052411	94052411	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgctggtgagaagggtccctCtggagaggctggtactgctg	17	9	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:94052411C>G	uc003ung.1	+	40	3017	c.2546C>G	c.(2545-2547)TCT>TGT	p.S849C	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	849			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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGGTCCCTCTGGAGAGGCT	0.507										HNSCC(75;0.22)			G	94052411	C	G	94052411	3	3	201	1	0	0	0	0	1	0	0	0	3678	913	32	5	2704	5	COL1A2	7	94052411	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1225855	94052411	65086252	113	110860											
LRRN3	54674	broad.mit.edu	37	chr7	110763771	110763771	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccagatttaagaaaaataGaagctactaacaaccctaga	6	8	0	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:110763771G>A	uc003vft.3	+	4	1989	c.943G>A	c.(943-945)GAA>AAA	p.E315K	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E315K|LRRN3_uc003vfs.3_Missense_Mutation_p.E315K	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	315	Extracellular (Potential).|LRR 11.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		AAGAAAAATAGAAGCTACTAA	0.408													A	110763771	G	A	110763771	3	1	201	1	0	0	0	0	1	0	0	0	9036	943	33	4	945	4	LRRN3	7	110763771	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	16711360	110763771	48374892	114	110861											
C7orf60	154743	broad.mit.edu	37	chr7	112462090	112462090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagatgcatatgtgaaaaTtttgagtacttgaagcgttt	9	4	1	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:112462090T>G	uc003vgo.1	-	5	1054	c.927A>C	c.(925-927)AAA>AAC	p.K309N	C7orf60_uc011kms.1_Missense_Mutation_p.K335N	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	309										ovary(2)|skin(1)	3						TATGTGAAAATTTTGAGTACT	0.398													G	112462090	T	G	112462090	3	3	201	1	0	0	0	0	1	0	0	0	2407	1490	52	5	294	5	C7orf60	7	112462090	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	1698319	112462090	46676573	115	110862											
CHRM2	1129	broad.mit.edu	37	chr7	136700588	136700588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctaagcaaacatgcatcAgaattggcaccaagacccca	6	13	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr7:136700588A>G	uc003vtf.1	+	4	1599	c.976A>G	c.(976-978)AGA>GGA	p.R326G	CHRM2_uc003vtg.1_Missense_Mutation_p.R326G|CHRM2_uc003vtj.1_Missense_Mutation_p.R326G|CHRM2_uc003vtk.1_Missense_Mutation_p.R326G|CHRM2_uc003vtl.1_Missense_Mutation_p.R326G|CHRM2_uc003vtm.1_Missense_Mutation_p.R326G|CHRM2_uc003vti.1_Missense_Mutation_p.R326G|CHRM2_uc003vto.1_Missense_Mutation_p.R326G|CHRM2_uc003vtn.1_Missense_Mutation_p.R326G|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	326	Cytoplasmic (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	AACATGCATCAGAATTGGCAC	0.448													G	136700588	A	G	136700588	3	3	201	1	0	0	0	0	1	0	0	0	3377	180	7	3	978	3	CHRM2	7	136700588	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	24238498	136700588	22438075	116	110863											
CSMD1	64478	broad.mit.edu	37	chr8	3432554	3432554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggggaggtaatgacgccGctgggcccacgcagattgga	16	9	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:3432554G>A	uc011kwk.1	-	10	1650	c.1260C>T	c.(1258-1260)AGC>AGT	p.S420S		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	420	CUB 3.|Extracellular (Potential).					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)		TAATGACGCCGCTGGGCCCAC	0.483													A	3432554	G	A	3432554	2	1	201	1	0	0	0	0	0	0	0	1	3944	1078	38	1		1	CSMD1	8	3432554	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08		3432554	142931468	117	110864											
USP17L2	377630	broad.mit.edu	37	chr8	11994792	11994792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggactcctgatctgtccggGtcgtcgaagagaggtttagc	14	10	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:11994792G>T	uc003wvc.1	-	1	1478	c.1478C>A	c.(1477-1479)ACC>AAC	p.T493N	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	493					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			skin(2)|upper_aerodigestive_tract(1)	3						ATCTGTCCGGGTCGTCGAAGA	0.512													T	11994792	G	T	11994792	3	4	201	1	0	0	0	0	1	0	0	0	17045	1261	44	5	118	5	USP17L2	8	11994792	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	8562238	11994792	134369230	118	110865											
TMEM66	51669	broad.mit.edu	37	chr8	29927339	29927339	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaatggtaatcaatccactCatgttacaggaatccgccga	7	11	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:29927339C>T	uc003xhs.2	-	3	703	c.519G>A	c.(517-519)ATG>ATA	p.M173I	TMEM66_uc003xht.2_Missense_Mutation_p.M173I|TMEM66_uc003xhu.2_Missense_Mutation_p.M137I|TMEM66_uc003xhv.2_Missense_Mutation_p.M1I	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	173						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCAATCCACTCATGTTACAGG	0.473													T	29927339	C	T	29927339	3	4	201	1	0	0	0	0	1	0	0	0	16192	826	29	4	516	4	TMEM66	8	29927339	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	17932547	29927339	116436683	119	110866											
PXDNL	137902	broad.mit.edu	37	chr8	52370214	52370214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgagtatcatcttccaAatccaatgagtggctggaaa	9	8	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:52370214A>C	uc003xqu.3	-	9	927	c.826T>G	c.(826-828)TTG>GTG	p.L276V		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	276	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCATCTTCCAAATCCAATGAG	0.368													C	52370214	A	C	52370214	3	2	201	1	0	0	0	0	1	0	0	0	12848	11	1	5	3625	5	PXDNL	8	52370214	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	22442875	52370214	93993808	120	110867											
PXDNL	137902	broad.mit.edu	37	chr8	52384802	52384802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccgcccggcaggtgaAgtagacggtatttcctgatg	12	11	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:52384802A>C	uc003xqu.3	-	8	858	c.757T>G	c.(757-759)TTC>GTC	p.F253V		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	253	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGGCAGGTGAAGTAGACGGTA	0.438													C	52384802	A	C	52384802	3	2	201	1	0	0	0	0	1	0	0	0	12848	72	3	5	3698	5	PXDNL	8	52384802	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	14588	52384802	93979220	121	110868											
CYP7A1	1581	broad.mit.edu	37	chr8	59410883	59410883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatttgtgatgaaatggaCatattttcccattagtttgc	10	5	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:59410883C>T	uc003xtm.3	-	2	289	c.226G>A	c.(226-228)GTC>ATC	p.V76I		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	76					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			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGAAATGGACATATTTTCCC	0.398									Neonatal_Giant_Cell_Hepatitis				T	59410883	C	T	59410883	3	4	201	1	0	0	0	0	1	0	0	0	4196	478	17	4	1308	4	CYP7A1	8	59410883	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	7026081	59410883	86953139	122	110869											
RRS1	23212	broad.mit.edu	37	chr8	67341800	67341800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggcggcggcgctgggGctaccagcgcgcccgggacg	19	15	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:67341800G>A	uc003xwa.2	+	1	538	c.434G>A	c.(433-435)GGC>GAC	p.G145D	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	145					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		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)			CGGCGCTGGGGCTACCAGCGC	0.652													A	67341800	G	A	67341800	3	1	201	1	0	0	0	0	1	0	0	0	13692	1203	42	2	436	2	RRS1	8	67341800	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	7930917	67341800	79022222	123	110870											
SULF1	23213	broad.mit.edu	37	chr8	70533427	70533427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagggagtctggttaccGtgccagcagaagccaaagaa	13	8	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:70533427G>A	uc010lza.1	+	14	2252	c.1535G>A	c.(1534-1536)CGT>CAT	p.R512H	SULF1_uc003xyd.2_Missense_Mutation_p.R512H|SULF1_uc003xye.2_Missense_Mutation_p.R512H|SULF1_uc003xyf.2_Missense_Mutation_p.R512H|SULF1_uc003xyg.2_Missense_Mutation_p.R512H|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	512					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCTGGTTACCGTGCCAGCAGA	0.547													A	70533427	G	A	70533427	3	1	201	1	0	0	0	0	1	0	0	0	15369	1145	40	1	1573	1	SULF1	8	70533427	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3191627	70533427	75830595	124	110871											
NCOA2	10499	broad.mit.edu	37	chr8	71078867	71078867	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcatagtttcatatttctGatgagcttcctggttatcat	7	8	3	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:71078867G>A	uc003xyn.1	-	7	826	c.664C>T	c.(664-666)CAG>TAG	p.Q222*		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	222					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCATATTTCTGATGAGCTTCC	0.473			T	RUNXBP2	AML								A	71078867	G	A	71078867	4	1	201	1	0	0	0	0	0	1	0	0	10229	1299	45	4	3798	4	NCOA2	8	71078867	Nonsense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	545440	71078867	75285155	125	110872											
RGS22	26166	broad.mit.edu	37	chr8	101092395	101092395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacattaatggtctcatcTtcatcgggggcattcatttg	9	8	4	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:101092395T>C	uc003yjb.1	-	4	501	c.306A>G	c.(304-306)GAA>GAG	p.E102E	RGS22_uc003yja.1_Silent_p.E6E|RGS22_uc003yjc.1_Silent_p.E102E|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	102					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGGTCTCATCTTCATCGGGGG	0.323													C	101092395	T	C	101092395	2	2	201	1	0	0	0	0	0	0	0	1	13305	1606	56	3		3	RGS22	8	101092395	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	30013528	101092395	45271627	126	110873											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:104898096T>G	uc003yls.2	+	2	844	c.603T>G	c.(601-603)TCT>TCG	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			G	104898096	T	G	104898096	2	3	201	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	104898096	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	3805701	104898096	41465926	127	110874											
RIMS2	9699	broad.mit.edu	37	chr8	104898323	104898323	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctccaccaccaaagcctcAtaaatcaaagaaaggcggta	6	13	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:104898323A>T	uc003yls.2	+	2	1071	c.830A>T	c.(829-831)CAT>CTT	p.H277L	RIMS2_uc003ylp.2_Missense_Mutation_p.H499L|RIMS2_uc003ylw.2_Missense_Mutation_p.H307L|RIMS2_uc003ylq.2_Missense_Mutation_p.H307L|RIMS2_uc003ylr.2_Missense_Mutation_p.H307L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	530					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAAAGCCTCATAAATCAAAG	0.423										HNSCC(12;0.0054)			T	104898323	A	T	104898323	3	4	201	1	0	0	0	0	1	0	0	0	13368	217	8	5	1636	5	RIMS2	8	104898323	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	227	104898323	41465699	128	110875											
RIMS2	9699	broad.mit.edu	37	chr8	105161047	105161047	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttggtctgtcacggaaaaGtcgcagtgcttctcagctca	11	11	4	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:105161047G>T	uc003yls.2	+	23	3600	c.3359G>T	c.(3358-3360)AGT>ATT	p.S1120I	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1109I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACGGAAAAGTCGCAGTGCT	0.453										HNSCC(12;0.0054)			T	105161047	G	T	105161047	3	4	201	1	0	0	0	0	1	0	0	0	13368	1044	36	5		5	RIMS2	8	105161047	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	262724	105161047	41202975	129	110876											
SNTB1	6641	broad.mit.edu	37	chr8	121587425	121587425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttctcagtcagcacaAccagggctggtttccactgt	10	12	3	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:121587425A>C	uc010mdg.2	-	4	1263	c.1037T>G	c.(1036-1038)GTT>GGT	p.V346G	SNTB1_uc003ype.2_Missense_Mutation_p.V346G	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	346	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGTCAGCACAACCAGGGCTGG	0.493													C	121587425	A	C	121587425	3	2	201	1	0	0	0	0	1	0	0	0	14872	43	2	5	595	5	SNTB1	8	121587425	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	16426378	121587425	24776597	130	110877											
TRAPPC9	83696	broad.mit.edu	37	chr8	141381153	141381153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctccacccaggctccgCgatgcttggggccacgcact	12	18	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:141381153C>T	uc003yvj.2	-	8	1395	c.1261G>A	c.(1261-1263)GCG>ACG	p.A421T	TRAPPC9_uc003yvh.2_Missense_Mutation_p.A519T|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A412T	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	421					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CCAGGCTCCGCGATGCTTGGG	0.597													T	141381153	C	T	141381153	3	4	201	1	0	0	0	0	1	0	0	0	16462	768	27	1	2249	1	TRAPPC9	8	141381153	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	19793728	141381153	4982869	131	110878											
EPPK1	83481	broad.mit.edu	37	chr8	144940246	144940246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtacgtgaggttctcGtgcgtgttggggtcgaagaa	17	6	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr8:144940246G>A	uc003zaa.1	-	2	15199	c.15186C>T	c.(15184-15186)CAC>CAT	p.H5062H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5062	Plectin 65.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			TGAGGTTCTCGTGCGTGTTGG	0.622													A	144940246	G	A	144940246	2	1	201	1	0	0	0	0	0	0	0	1	5190	1136	40	1		1	EPPK1	8	144940246	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3559093	144940246	1423776	132	110879											
PTPRD	5789	broad.mit.edu	37	chr9	8518071	8518071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatttggctcttcaggTtccttccactgtaccaaaat	6	12	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:8518071T>G	uc003zkk.2	-	20	2031	c.1320A>C	c.(1318-1320)GAA>GAC	p.E440D	PTPRD_uc003zkp.2_Missense_Mutation_p.E440D|PTPRD_uc003zkq.2_Missense_Mutation_p.E440D|PTPRD_uc003zkr.2_Missense_Mutation_p.E434D|PTPRD_uc003zks.2_Missense_Mutation_p.E430D|PTPRD_uc003zkl.2_Missense_Mutation_p.E440D|PTPRD_uc003zkm.2_Missense_Mutation_p.E427D|PTPRD_uc003zkn.2_Missense_Mutation_p.E440D|PTPRD_uc003zko.2_Missense_Mutation_p.E437D	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	440	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		GCTCTTCAGGTTCCTTCCACT	0.463										TSP Lung(15;0.13)			G	8518071	T	G	8518071	3	3	201	1	0	0	0	0	1	0	0	0	12799	1722	60	5	4590	5	PTPRD	9	8518071	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08		8518071	132695360	133	110880											
ANKRD20A3	441425	broad.mit.edu	37	chr9	67952005	67952005	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggaaacagaatagtcaatgGacaaggagaaggtgagaacc	13	5	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:67952005G>C	uc004aeu.2	+	9	1080	c.968G>C	c.(967-969)GGA>GCA	p.G323A	ANKRD20A3_uc010mnn.2_Missense_Mutation_p.G322A	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	323											0						ATAGTCAATGGACAAGGAGAA	0.294													C	67952005	G	C	67952005	3	2	201	1	0	0	0	0	1	0	0	0	649	1174	41	5	6066	5	ANKRD20A3	9	67952005	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	59433934	67952005	73261426	134	110881											
WNK2	65268	broad.mit.edu	37	chr9	96051437	96051437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgcctcaaccagggaCgccagtgccccaagggagcc	14	15	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:96051437C>T	uc004ati.1	+	20	4512	c.4512C>T	c.(4510-4512)GAC>GAT	p.D1504D	WNK2_uc011lud.1_Silent_p.D1467D|WNK2_uc004atj.2_Silent_p.D1467D|WNK2_uc004atk.2_Silent_p.D1104D|WNK2_uc004atl.1_Silent_p.D62D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1504					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CAACCAGGGACGCCAGTGCCC	0.692													T	96051437	C	T	96051437	2	4	201	1	0	0	0	0	0	0	0	1	17375	535	19	1		1	WNK2	9	96051437	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	28099432	96051437	45161994	135	110882											
SVEP1	79987	broad.mit.edu	37	chr9	113261413	113261413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagataaaatgaacccttggCggcaacttacatagcagatc	8	10	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:113261413C>T	uc010mtz.2	-	7	1926	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H	SVEP1_uc010mua.1_Missense_Mutation_p.R530H|SVEP1_uc004beu.2_Missense_Mutation_p.R530H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	530	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAACCCTTGGCGGCAACTTAC	0.473													T	113261413	C	T	113261413	3	4	201	1	0	0	0	0	1	0	0	0	15417	768	27	1	9294	1	SVEP1	9	113261413	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	17209976	113261413	27952018	136	110883											
TLR4	7099	broad.mit.edu	37	chr9	120476158	120476158	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgactttgcttgtacTtgtgaacaccagagtttcct	8	9	0	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:120476158T>G	uc004bjz.2	+	3	2043	c.1752T>G	c.(1750-1752)ACT>ACG	p.T584T	TLR4_uc004bka.2_Silent_p.T544T|TLR4_uc004bkb.2_Silent_p.T384T	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	584	LRRCT.|Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						TTGCTTGTACTTGTGAACACC	0.418													G	120476158	T	G	120476158	2	3	201	1	0	0	0	0	0	0	0	1	15950	1596	56	5		5	TLR4	9	120476158	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	7214745	120476158	20737273	137	110884											
FBXW2	26190	broad.mit.edu	37	chr9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaatcaggctctctgtccGcaagtccatgatgtacaggt	9	11	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:123527025G>A	uc004bkl.1	-	8	1338	c.1177C>T	c.(1177-1179)CGG>TGG	p.R393W	FBXW2_uc011lyc.1_Missense_Mutation_p.R264W|FBXW2_uc004bkn.2_Missense_Mutation_p.R425W|FBXW2_uc004bkm.1_Missense_Mutation_p.R393W|FBXW2_uc010mvj.1_Missense_Mutation_p.R328W	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	393					proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						CTCTCTGTCCGCAAGTCCATG	0.517													A	123527025	G	A	123527025	3	1	201	1	0	0	0	0	1	0	0	0	5766	1086	38	1	191	1	FBXW2	9	123527025	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3050867	123527025	17686406	138	110885											
OR1K1	392392	broad.mit.edu	37	chr9	125563076	125563076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggggccatcgcagctgcCgtgctccagctgccctcagc	12	16	1	0	rs148468818	by1000genomes	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:125563076C>T	uc011lze.1	+	1	675	c.675C>T	c.(673-675)GCC>GCT	p.A225A		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCGCAGCTGCCGTGCTCCAGC	0.642													T	125563076	C	T	125563076	2	4	201	1	0	0	0	0	0	0	0	1	10962	639	23	1		1	OR1K1	9	125563076	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	2036051	125563076	15650355	139	110886											
SLC25A25	114789	broad.mit.edu	37	chr9	130869718	130869718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctgggcgtgcagtcgCggtgacggggggagggccgc	20	12	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:130869718C>T	uc004bte.2	+	10	1434	c.1405C>T	c.(1405-1407)CGG>TGG	p.R469W	SLC25A25_uc004btb.2_Missense_Mutation_p.R503W|SLC25A25_uc004btc.2_Missense_Mutation_p.R489W|SLC25A25_uc004btd.2_Missense_Mutation_p.R501W|SLC25A25_uc004btf.2_Missense_Mutation_p.R366W	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	469	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						CGTGCAGTCGCGGTGACGGGG	0.622													T	130869718	C	T	130869718	3	4	201	1	0	0	0	0	1	0	0	0	14488	759	27	1	1931	1	SLC25A25	9	130869718	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	5306642	130869718	10343713	140	110887											
SETX	23064	broad.mit.edu	37	chr9	135205095	135205095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcatatcttttctagaCgtcttccccatttgttcact	4	12	4	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:135205095C>T	uc004cbk.2	-	10	2073	c.1890G>A	c.(1888-1890)ACG>ACA	p.T630T	SETX_uc004cbj.2_Silent_p.T249T|SETX_uc010mzt.2_Silent_p.T249T	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	630					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTTTCTAGACGTCTTCCCCA	0.373													T	135205095	C	T	135205095	2	4	201	1	0	0	0	0	0	0	0	1	14141	523	19	1		1	SETX	9	135205095	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	4335377	135205095	6008336	141	110888											
CACNA1B	774	broad.mit.edu	37	chr9	140904511	140904511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggacaacctggccaaCgcccaagagctgaccaaggt	12	13	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr9:140904511C>T	uc004cog.2	+	17	2287	c.2142C>T	c.(2140-2142)AAC>AAT	p.N714N	CACNA1B_uc011mfd.1_Silent_p.N245N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	714	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCTGGCCAACGCCCAAGAGC	0.607													T	140904511	C	T	140904511	2	4	201	1	0	0	0	0	0	0	0	1	2539	535	19	1		1	CACNA1B	9	140904511	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	5699416	140904511	308920	142	110889											
LARP4B	23185	broad.mit.edu	37	chr10	858975	858975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctggtctctgggggctccaGgtgtggacttgagggctggg	19	8	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:858975G>C	uc001ifs.1	-	17	2149	c.2108C>G	c.(2107-2109)CCT>CGT	p.P703R		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	703							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						GGGGGCTCCAGGTGTGGACTT	0.532													C	858975	G	C	858975	3	2	201	1	0	0	0	0	1	0	0	0	8631	1000	35	5	112	5	LARP4B	10	858975	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		858975	134675772	143	110890											
OPTN	10133	broad.mit.edu	37	chr10	13178767	13178767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggacagggactggcgGcaacagcggaatattccgat	15	9	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:13178767G>A	uc001ilu.1	+	16	2073	c.1635G>A	c.(1633-1635)CGG>CGA	p.R545R	OPTN_uc001ilv.1_Silent_p.R545R|OPTN_uc001ilw.1_Silent_p.R545R|OPTN_uc001ilx.1_Silent_p.R545R|OPTN_uc001ily.1_Silent_p.R539R|OPTN_uc010qbr.1_Silent_p.R488R|OPTN_uc001ilz.1_Silent_p.R539R	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	545	Interaction with HD.				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			ovary(2)	2						GGGACTGGCGGCAACAGCGGA	0.458													A	13178767	G	A	13178767	2	1	201	1	0	0	0	0	0	0	0	1	10889	1190	42	2		2	OPTN	10	13178767	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	12319792	13178767	122355980	144	110891											
APBB1IP	54518	broad.mit.edu	37	chr10	26800822	26800822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttatgaaatctacccGgaactacaaattggtaagtc	7	8	2	1	rs142075664		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:26800822G>A	uc001iss.2	+	7	999	c.678G>A	c.(676-678)CCG>CCA	p.P226P	APBB1IP_uc009xks.1_Silent_p.P226P	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	226	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						AAATCTACCCGGAACTACAAA	0.453													A	26800822	G	A	26800822	2	1	201	1	0	0	0	0	0	0	0	1	760	1103	39	1		1	APBB1IP	10	26800822	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	13622055	26800822	108733925	145	110892											
NEUROG3	50674	broad.mit.edu	37	chr10	71332375	71332375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtacaagctgtggtccGctatgcgcagcgtttgagtc	14	11	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:71332375G>T	uc001jpp.2	-	2	583	c.425C>A	c.(424-426)GCG>GAG	p.A142E		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	142					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				0						GCTGTGGTCCGCTATGCGCAG	0.682													T	71332375	G	T	71332375	3	4	201	1	0	0	0	0	1	0	0	0	10354	1087	38	5	223	5	NEUROG3	10	71332375	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	44531553	71332375	64202372	146	110893											
DUPD1	338599	broad.mit.edu	37	chr10	76803766	76803766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctatagcggtccagCgccgtcgccctgggcgcagg	15	15	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:76803766C>T	uc001jwq.1	-	2	210	c.210G>A	c.(208-210)GCG>GCA	p.A70A		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	70	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCGGTCCAGCGCCGTCGCCC	0.697													T	76803766	C	T	76803766	2	4	201	1	0	0	0	0	0	0	0	1	4804	755	27	1		1	DUPD1	10	76803766	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	5471391	76803766	58730981	147	110894											
NRG3	10718	broad.mit.edu	37	chr10	84711235	84711235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattcacagagagtgaagaAgtttatcaaaggcaggtgct	11	5	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:84711235A>C	uc001kco.2	+	5	1092	c.1065A>C	c.(1063-1065)GAA>GAC	p.E355D	NRG3_uc010qlz.1_Missense_Mutation_p.E354D|NRG3_uc001kcp.2_Missense_Mutation_p.E134D|NRG3_uc001kcq.2_Missense_Mutation_p.E5D|NRG3_uc001kcr.2_Missense_Mutation_p.E5D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	355	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGAGTGAAGAAGTTTATCAAA	0.408													C	84711235	A	C	84711235	3	2	201	1	0	0	0	0	1	0	0	0	10649	69	3	5	1251	5	NRG3	10	84711235	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	7907469	84711235	50823512	148	110895											
C10orf129	142827	broad.mit.edu	37	chr10	96972614	96972614	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttccttcctttggggcccaGgtcctgtccagatttcccat	8	14	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:96972614G>C	uc001kke.2	+	7	1038	c.913_splice	c.e7-1	p.V305_splice	C10orf129_uc009xuu.1_Splice_Site_p.V215_splice	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	acyl-coenzyme A synthetase ACSM6, mitochondrial						fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TTGGGGCCCAGGTCCTGTCCA	0.527													C	96972614	G	C	96972614	5	2	201	1	0	0	0	0	0	0	1	0	1593	1014	35	5	934	5	C10orf129	10	96972614	Splice_Site	SNP	G	TCGA-D7-5578-01A-01D-1600-08	12261379	96972614	38562133	149	110896											
HPS6	79803	broad.mit.edu	37	chr10	103826688	103826688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggttggactgagctggCggagcaggaagtggcacgcc	19	9	0	1	rs139679441	by1000genomes	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:103826688C>A	uc001kuj.2	+	1	1542	c.1457C>A	c.(1456-1458)GCG>GAG	p.A486E		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	486						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACTGAGCTGGCGGAGCAGGAA	0.592									Hermansky-Pudlak_syndrome				A	103826688	C	A	103826688	3	1	201	1	0	0	0	0	1	0	0	0	7343	768	27	5	1459	5	HPS6	10	103826688	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	6854074	103826688	31708059	150	110897											
DHX32	55760	broad.mit.edu	37	chr10	127542584	127542584	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgactgagttgctccagatCaaaaactctccagagctagt	8	11	2	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:127542584C>A	uc001ljf.1	-	4	1529	c.1038G>T	c.(1036-1038)TTG>TTT	p.L346F	DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Missense_Mutation_p.L346F|DHX32_uc009yam.1_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	346						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGCTCCAGATCAAAAACTCTC	0.383													A	127542584	C	A	127542584	3	1	201	1	0	0	0	0	1	0	0	0	4505	825	29	5	1225	5	DHX32	10	127542584	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	23715896	127542584	7992163	151	110898											
DPYSL4	10570	broad.mit.edu	37	chr10	134006169	134006169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctttcagacaaatcGgagaaaacctcatcgtccct	7	13	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr10:134006169G>A	uc009ybb.2	+	3	290	c.136G>A	c.(136-138)GGA>AGA	p.G46R		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	46					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		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)		CAGACAAATCGGAGAAAACCT	0.567													A	134006169	G	A	134006169	3	1	201	1	0	0	0	0	1	0	0	0	4749	1117	39	1	146	1	DPYSL4	10	134006169	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	6463585	134006169	1528578	152	110899											
NUP98	4928	broad.mit.edu	37	chr11	3697502	3697502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtggggagccaagaggcGcaaagggactcgctgagggt	18	7	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:3697502G>A	uc001lyh.2	-	33	5581	c.5290C>T	c.(5290-5292)CGC>TGC	p.R1764C	NUP98_uc001lyi.2_Missense_Mutation_p.R1690C|NUP98_uc001lyg.2_Missense_Mutation_p.R729C	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1781					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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		GCCAAGAGGCGCAAAGGGACT	0.592			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								A	3697502	G	A	3697502	3	1	201	1	0	0	0	0	1	0	0	0	10773	1087	38	1	116	1	NUP98	11	3697502	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		3697502	131309014	153	110900											
OR56B1	387748	broad.mit.edu	37	chr11	5758135	5758136	+	Frame_Shift_Del	DEL	AT	AT	-													cctactctgcatggcttttgAtagatatgtggctatttgtc							TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:5758134_5758135GAT>G	uc001mbt.2	+	0	457_458	c.388_389GAT>G	c.(388-390)gatfs	p.D130fs	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Frame_Shift_Del_p.D130fs|OR56B1_uc009yev.1_Frame_Shift_Del_p.D130fs	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	130					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)		CATGGCTTTTGATAGATATGTG	0.436													-	5758136	AT	-	5758135	7	5	201	1	0	1	0	1	0	0	0	0	11137	333	12	0	391	0	OR56B1	11	5758135	Frame_Shift_Del	DEL	AT	TCGA-D7-5578-01A-01D-1600-08	2060633	5758135	129248381	154	110901											
SPON1	10418	broad.mit.edu	37	chr11	14276115	14276115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttccgtggacagaacgcGccatttaatgtccttcctga	8	11	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:14276115G>A	uc001mle.2	+	9	1470	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	311	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		GACAGAACGCGCCATTTAATG	0.507													A	14276115	G	A	14276115	3	1	201	1	0	0	0	0	1	0	0	0	15081	1087	38	1	961	1	SPON1	11	14276115	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	8517980	14276115	120730401	155	110902											
API5	8539	broad.mit.edu	37	chr11	43352088	43352088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgttgcattgaaaataAcaaacaatatcaatgtttta	5	5	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:43352088A>G	uc010rfh.1	+	11	1425	c.1252A>G	c.(1252-1254)ACA>GCA	p.T418A	API5_uc010rfg.1_Missense_Mutation_p.T407A|API5_uc001mxf.2_Missense_Mutation_p.T418A|API5_uc010rfi.1_Missense_Mutation_p.T364A|API5_uc001mxg.2_Missense_Mutation_p.T292A	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	418					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						ATTGAAAATAACAAACAATAT	0.289													G	43352088	A	G	43352088	3	3	201	1	0	0	0	0	1	0	0	0	773	43	2	3	1294	3	API5	11	43352088	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	29075973	43352088	91654428	156	110903											
MADD	8567	broad.mit.edu	37	chr11	47350618	47350618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgaaatctgctactccGtattatgtctcttctcgtac	5	14	3	0	rs140803760		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:47350618G>A	uc001ner.1	+	36	5052	c.4861G>A	c.(4861-4863)GTA>ATA	p.V1621I	MADD_uc001neq.2_Missense_Mutation_p.V1562I|MADD_uc001nev.1_3'UTR|MADD_uc001nes.1_Missense_Mutation_p.V1539I|MADD_uc001net.1_Missense_Mutation_p.V1582I|MADD_uc009yln.1_Missense_Mutation_p.V1515I|MADD_uc001neu.1_Missense_Mutation_p.V1519I|MADD_uc001nex.2_3'UTR|MADD_uc001nez.2_Missense_Mutation_p.V1518I|MADD_uc001new.2_Missense_Mutation_p.V1561I	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1621					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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTGCTACTCCGTATTATGTCT	0.537													A	47350618	G	A	47350618	3	1	201	1	0	0	0	0	1	0	0	0	9152	1145	40	1	4999	1	MADD	11	47350618	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3998530	47350618	87655898	157	110904											
OR4A47	403253	broad.mit.edu	37	chr11	48510526	48510526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaatgtacttctttcTtgctggcttatcatttatag	5	10	4	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:48510526T>C	uc010rhx.1	+	1	182	c.182T>C	c.(181-183)CTT>CCT	p.L61P		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TACTTCTTTCTTGCTGGCTTA	0.408													C	48510526	T	C	48510526	3	2	201	1	0	0	0	0	1	0	0	0	11042	1609	56	3	184	3	OR4A47	11	48510526	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	1159908	48510526	86495990	158	110905											
OR4A5	81318	broad.mit.edu	37	chr11	51411522	51411522	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtttttctatagcatttcTcatctctgaatttctcaacg	5	9	4	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:51411522T>G	uc001nhi.1	-	1	874	c.874A>C	c.(874-876)AGA>CGA	p.R292R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	292	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				ATAGCATTTCTCATCTCTGAA	0.343													G	51411522	T	G	51411522	2	3	201	1	0	0	0	0	0	0	0	1	11043	1559	54	5		5	OR4A5	11	51411522	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	2900996	51411522	83594994	159	110906											
OR4C16	219428	broad.mit.edu	37	chr11	55340006	55340006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcactacatgaccatcataAgccagtgggtctgtggtgtt	11	9	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:55340006A>C	uc010rih.1	+	1	403	c.403A>C	c.(403-405)AGC>CGC	p.S135R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GACCATCATAAGCCAGTGGGT	0.507													C	55340006	A	C	55340006	3	2	201	1	0	0	0	0	1	0	0	0	11049	72	3	5	405	5	OR4C16	11	55340006	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	3928484	55340006	79666510	160	110907											
OR4C6	219432	broad.mit.edu	37	chr11	55432670	55432670	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaacaatgtgactgaaTtcattcttctgggtctcaca	6	9	5	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:55432670T>A	uc001nht.3	+	3	293	c.28T>A	c.(28-30)TTC>ATC	p.F10I	OR4C6_uc010rik.1_Missense_Mutation_p.F10I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGTGACTGAATTCATTCTTCT	0.363													A	55432670	T	A	55432670	3	1	201	1	0	0	0	0	1	0	0	0	11052	1493	52	5	30	5	OR4C6	11	55432670	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	92664	55432670	79573846	161	110908											
OR8H3	390152	broad.mit.edu	37	chr11	55890015	55890015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccgcctggacctccagcTtcacactcccatgtattttt	5	15	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:55890015T>G	uc001nii.1	+	1	167	c.167T>G	c.(166-168)CTT>CGT	p.L56R		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					GACCTCCAGCTTCACACTCCC	0.438													G	55890015	T	G	55890015	3	3	201	1	0	0	0	0	1	0	0	0	11239	1609	56	5	169	5	OR8H3	11	55890015	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	457345	55890015	79116501	162	110909											
OR5T2	219464	broad.mit.edu	37	chr11	56000460	56000460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagattgctagaaacaggaAgaagaagatagtctgcagtt	12	4	1	5			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:56000460A>C	uc010rjc.1	-	1	202	c.202T>G	c.(202-204)TTC>GTC	p.F68V		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	68	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AGAAACAGGAAGAAGAAGATA	0.388													C	56000460	A	C	56000460	3	2	201	1	0	0	0	0	1	0	0	0	11182	72	3	5	876	5	OR5T2	11	56000460	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	110445	56000460	79006056	163	110910											
OR5T1	390155	broad.mit.edu	37	chr11	56044028	56044028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccatcatctacagtttgcGgaacaaagatgtaaaggagg	10	8	2	1	rs143790336		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:56044028G>A	uc001nio.1	+	1	914	c.914G>A	c.(913-915)CGG>CAG	p.R305Q		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TACAGTTTGCGGAACAAAGAT	0.343													A	56044028	G	A	56044028	3	1	201	1	0	0	0	0	1	0	0	0	11181	1116	39	1	916	1	OR5T1	11	56044028	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	43568	56044028	78962488	164	110911											
OR5R1	219479	broad.mit.edu	37	chr11	56184767	56184767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatttttaaaaatgttaaTatctgtaagttttcacaacc	3	6	2	0	rs140012472		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:56184767T>C	uc010rji.1	-	1	942	c.942A>G	c.(940-942)ATA>ATG	p.I314M		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	314	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AAAATGTTAATATCTGTAAGT	0.299													C	56184767	T	C	56184767	3	2	201	1	0	0	0	0	1	0	0	0	11180	1396	49	3	34	3	OR5R1	11	56184767	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	140739	56184767	78821749	165	110912											
CTSW	1521	broad.mit.edu	37	chr11	65650818	65650818	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcagagacagtctcatcgCagtctcagcctcagcctcca	10	15	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:65650818C>G	uc001ogc.1	+	9	985	c.943C>G	c.(943-945)CAG>GAG	p.Q315E	CTSW_uc001ogb.1_Missense_Mutation_p.Q315E	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	315					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		AGTCTCATCGCAGTCTCAGCC	0.592													G	65650818	C	G	65650818	3	3	201	1	0	0	0	0	1	0	0	0	4042	711	25	5	977	5	CTSW	11	65650818	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	9466051	65650818	69355698	166	110913											
UNC93B1	81622	broad.mit.edu	37	chr11	67766770	67766770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtactcatggtacttctgcGccatcctggaccacaaagga	9	12	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:67766770G>A	uc001omw.1	-	5	640	c.560C>T	c.(559-561)GCG>GTG	p.A187V		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1	187					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					0						GTACTTCTGCGCCATCCTGGA	0.632													A	67766770	G	A	67766770	3	1	201	1	0	0	0	0	1	0	0	0	16994	1087	38	1	1260	1	UNC93B1	11	67766770	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	2115952	67766770	67239746	167	110914											
FOLR1	2348	broad.mit.edu	37	chr11	71907066	71907066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaactacagccgagggagtGgccgctgcatccagatgtgg	15	11	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:71907066G>A	uc001orz.1	+	6	757	c.619G>A	c.(619-621)GGC>AGC	p.G207S	FOLR1_uc001osa.1_Missense_Mutation_p.G207S|FOLR1_uc001osb.1_Missense_Mutation_p.G207S|FOLR1_uc001osc.1_Missense_Mutation_p.G207S|FOLR1_uc001osd.1_Missense_Mutation_p.G207S	NM_016724	NP_057936	P15328	FOLR1_HUMAN	folate receptor 1 precursor	207					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			ovary(1)	1						CCGAGGGAGTGGCCGCTGCAT	0.587													A	71907066	G	A	71907066	3	1	201	1	0	0	0	0	1	0	0	0	5981	1348	47	4	633	4	FOLR1	11	71907066	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	4140296	71907066	63099450	168	110915											
FAT3	120114	broad.mit.edu	37	chr11	92087018	92087018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagccctctctttgaaaaAgtggcttgccagggagttat	10	9	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:92087018A>G	uc001pdj.3	+	1	1757	c.1740A>G	c.(1738-1740)AAA>AAG	p.K580K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	580	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTTTGAAAAAGTGGCTTGCC	0.443										TCGA Ovarian(4;0.039)			G	92087018	A	G	92087018	2	3	201	1	0	0	0	0	0	0	0	1	5691	69	3	3		3	FAT3	11	92087018	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	20179952	92087018	42919498	169	110916											
HEPHL1	341208	broad.mit.edu	37	chr11	93844120	93844120	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctctttcctgggacattcCaaaccattgaactgtttgca	6	11	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:93844120C>T	uc001pep.2	+	18	3254	c.3097C>T	c.(3097-3099)CAA>TAA	p.Q1033*	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1033	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGGACATTCCAAACCATTGA	0.443													T	93844120	C	T	93844120	4	4	201	1	0	0	0	0	0	1	0	0	7055	595	21	4	3167	4	HEPHL1	11	93844120	Nonsense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1757102	93844120	41162396	170	110917											
TRPC6	7225	broad.mit.edu	37	chr11	101362341	101362341	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgagatttgggcgaccGtgatcaccactctggagcgt	14	11	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:101362341G>A	uc001pgk.3	-	3	1499	c.1074C>T	c.(1072-1074)CAC>CAT	p.H358H	TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Silent_p.H358H	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	358	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGGCGACCGTGATCACCAC	0.433													A	101362341	G	A	101362341	2	1	201	1	0	0	0	0	0	0	0	1	16580	1136	40	1		1	TRPC6	11	101362341	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	7518221	101362341	33644175	171	110918											
DCUN1D5	84259	broad.mit.edu	37	chr11	102937031	102937031	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatactgaaaacagtggCcatgtcctcccaagcagaag	8	10	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:102937031C>T	uc001phm.2	-	6	790	c.522G>A	c.(520-522)TGG>TGA	p.W174*	DCUN1D5_uc010ruw.1_Nonsense_Mutation_p.W105*	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain	174	DCUN1.										0		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)		AAAACAGTGGCCATGTCCTCC	0.313													T	102937031	C	T	102937031	4	4	201	1	0	0	0	0	0	1	0	0	4317	740	26	2	203	2	DCUN1D5	11	102937031	Nonsense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1574690	102937031	32069485	172	110919											
PRDM10	56980	broad.mit.edu	37	chr11	129775606	129775606	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaatcacaaactgacccGgaggaagcgtcatcatttga	9	10	3	2	rs140045693		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr11:129775606G>T	uc001qfm.2	-	21	3438	c.3206C>A	c.(3205-3207)CCG>CAG	p.P1069Q	PRDM10_uc001qfj.2_Missense_Mutation_p.P970Q|PRDM10_uc001qfk.2_Missense_Mutation_p.P932Q|PRDM10_uc001qfl.2_Missense_Mutation_p.P983Q|PRDM10_uc010sbx.1_Missense_Mutation_p.P979Q|PRDM10_uc001qfn.2_Missense_Mutation_p.P1065Q	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	1056					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		AAACTGACCCGGAGGAAGCGT	0.428													T	129775606	G	T	129775606	3	4	201	1	0	0	0	0	1	0	0	0	12451	1116	39	5	284	5	PRDM10	11	129775606	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	26838575	129775606	5230910	173	110920											
TULP3	7289	broad.mit.edu	37	chr12	3047401	3047401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcaacttccgtggccGggtcactcaggcgtctgtga	12	13	4	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:3047401G>A	uc010seh.1	+	10	1226	c.1145G>A	c.(1144-1146)CGG>CAG	p.R382Q	TULP3_uc009zec.1_Missense_Mutation_p.R109Q|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.R382Q|TULP3_uc010sei.1_Missense_Mutation_p.R206Q	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	382					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TTCCGTGGCCGGGTCACTCAG	0.532													A	3047401	G	A	3047401	3	1	201	1	0	0	0	0	1	0	0	0	16772	1116	39	1	1183	1	TULP3	12	3047401	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		3047401	130804494	174	110921											
PRMT8	56341	broad.mit.edu	37	chr12	3649831	3649831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctaagcccgtgcaatgCgtccatcatgtgtccactca	8	15	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:3649831C>T	uc001qmf.2	+	2	502	c.135C>T	c.(133-135)TGC>TGT	p.C45C	PRMT8_uc009zed.2_Silent_p.C36C|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	45					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			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCGTGCAATGCGTCCATCATG	0.602													T	3649831	C	T	3649831	2	4	201	1	0	0	0	0	0	0	0	1	12542	776	27	1		1	PRMT8	12	3649831	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	602430	3649831	130202064	175	110922											
AKAP3	10566	broad.mit.edu	37	chr12	4735889	4735889	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcattctgcaggacagcttCtgctgaccctgtgcccttgg	12	13	2	1	rs74060068	byFrequency	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:4735889C>A	uc001qnb.3	-	4	2408	c.2179G>T	c.(2179-2181)GAA>TAA	p.E727*		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	727					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						AGGACAGCTTCTGCTGACCCT	0.522													A	4735889	C	A	4735889	4	1	201	1	0	0	0	0	0	1	0	0	452	922	32	5	390	5	AKAP3	12	4735889	Nonsense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1086058	4735889	129116006	176	110923											
NOP2	4839	broad.mit.edu	37	chr12	6670217	6670217	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcattggcaaggatcacaccCgtgttcttcatcagctgggc	10	12	5	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:6670217C>G	uc001qph.1	-	12	1395	c.1215G>C	c.(1213-1215)ACG>ACC	p.T405T	NOP2_uc009zeq.1_Silent_p.T121T|NOP2_uc001qpi.1_Silent_p.T405T|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	409					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						GGATCACACCCGTGTTCTTCA	0.542													G	6670217	C	G	6670217	2	3	201	1	0	0	0	0	0	0	0	1	10538	639	23	5		5	NOP2	12	6670217	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1934328	6670217	127181678	177	110924											
WBP11	51729	broad.mit.edu	37	chr12	14949824	14949824	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctcaattctttgtaaatatCtggattctctttttcataga	4	7	5	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:14949824C>T	uc001rci.2	-	5	465	c.304G>A	c.(304-306)GAT>AAT	p.D102N		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	102	Potential.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						TTGTAAATATCTGGATTCTCT	0.353													T	14949824	C	T	14949824	3	4	201	1	0	0	0	0	1	0	0	0	17255	913	32	4	1653	4	WBP11	12	14949824	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	8279607	14949824	118902071	178	110925											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427792	19427792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcttagaggtggaaaTcgccccaatacagggccctt	11	11	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:19427792T>C	uc001reb.2	+	10	1256	c.1170T>C	c.(1168-1170)AAT>AAC	p.N390N	PLEKHA5_uc010sie.1_Silent_p.N396N|PLEKHA5_uc001rea.2_Silent_p.N390N|PLEKHA5_uc009zin.2_Silent_p.N148N|PLEKHA5_uc010sif.1_Silent_p.N282N|PLEKHA5_uc010sig.1_Silent_p.N282N|PLEKHA5_uc010sih.1_Silent_p.N282N|PLEKHA5_uc001rec.1_Silent_p.N78N	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	390							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GAGGTGGAAATCGCCCCAATA	0.468													C	19427792	T	C	19427792	2	2	201	1	0	0	0	0	0	0	0	1	12059	1432	50	3		3	PLEKHA5	12	19427792	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	4477968	19427792	114424103	179	110926											
PDE3A	5139	broad.mit.edu	37	chr12	20833192	20833192	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagataccaacccaaaAgccagaccagtgacaatgga	10	11	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:20833192A>C	uc001reh.1	+	16	3435	c.3413A>C	c.(3412-3414)AAG>ACG	p.K1138T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	1138					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCAACCCAAAAGCCAGACCAG	0.468													C	20833192	A	C	20833192	3	2	201	1	0	0	0	0	1	0	0	0	11637	72	3	5	3475	5	PDE3A	12	20833192	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	1405400	20833192	113018703	180	110927											
GYS2	2998	broad.mit.edu	37	chr12	21728967	21728967	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taccacataaggacttccttCtatcagccatcttccaaaat	3	13	3	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:21728967C>A	uc001rfb.2	-	3	583	c.328G>T	c.(328-330)GAA>TAA	p.E110*		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	110					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			lung(1)|skin(1)	2						GGACTTCCTTCTATCAGCCAT	0.443													A	21728967	C	A	21728967	4	1	201	1	0	0	0	0	0	1	0	0	6913	922	32	5	1839	5	GYS2	12	21728967	Nonsense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	895775	21728967	112122928	181	110928											
CNTN1	1272	broad.mit.edu	37	chr12	41421693	41421693	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggatcatcagttcagtAaggtctggttcacgctatat	9	9	5	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:41421693A>G	uc001rmm.1	+	22	2858	c.2745A>G	c.(2743-2745)GTA>GTG	p.V915V	CNTN1_uc001rmn.1_Silent_p.V904V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	915	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	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)				TCAGTTCAGTAAGGTCTGGTT	0.393													G	41421693	A	G	41421693	2	3	201	1	0	0	0	0	0	0	0	1	3640	349	13	3		3	CNTN1	12	41421693	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	19692726	41421693	92430202	182	110929											
PRPH	5630	broad.mit.edu	37	chr12	49689232	49689232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcgacttctccatggcCgaggccctcaaccaggagtt	10	16	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:49689232C>T	uc001rtu.2	+	1	324	c.249C>T	c.(247-249)GCC>GCT	p.A83A		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	83	Head.						structural molecule activity				0						TCTCCATGGCCGAGGCCCTCA	0.687													T	49689232	C	T	49689232	2	4	201	1	0	0	0	0	0	0	0	1	12576	639	23	1		1	PRPH	12	49689232	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	8267539	49689232	84162663	183	110930											
KRT75	9119	broad.mit.edu	37	chr12	52818448	52818448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaccactggtggtgaaGgagtagccgctgcccccacc	12	16	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:52818448G>A	uc001saj.2	-	9	1531	c.1509C>T	c.(1507-1509)TCC>TCT	p.S503S		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	503	Tail.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGGTGGTGAAGGAGTAGCCGC	0.627													A	52818448	G	A	52818448	2	1	201	1	0	0	0	0	0	0	0	1	8488	987	35	4		4	KRT75	12	52818448	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3129216	52818448	81033447	184	110931											
KRT75	9119	broad.mit.edu	37	chr12	52827681	52827681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggtggggtcgatttgCaggtgaagaggagtcaggag	20	3	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:52827681C>T	uc001saj.2	-	1	430	c.408G>A	c.(406-408)CTG>CTA	p.L136L		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	136	Head.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGTCGATTTGCAGGTGAAGAG	0.597													T	52827681	C	T	52827681	2	4	201	1	0	0	0	0	0	0	0	1	8488	697	25	2		2	KRT75	12	52827681	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	9233	52827681	81024214	185	110932											
EIF4B	1975	broad.mit.edu	37	chr12	53421886	53421886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaggcggggaccgctAtgaagaccgatatgacagac	15	9	0	5			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:53421886A>G	uc001sbh.3	+	8	1099	c.893A>G	c.(892-894)TAT>TGT	p.Y298C	EIF4B_uc010snu.1_Missense_Mutation_p.Y298C|EIF4B_uc010snv.1_Missense_Mutation_p.Y259C|EIF4B_uc001sbi.2_Missense_Mutation_p.Y50C	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	298	Arg-rich.|Asp-rich.				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(1)|kidney(1)	2						GGGGACCGCTATGAAGACCGA	0.488													G	53421886	A	G	53421886	3	3	201	1	0	0	0	0	1	0	0	0	5027	449	16	3	923	3	EIF4B	12	53421886	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	594205	53421886	80430009	186	110933											
NPFF	8620	broad.mit.edu	37	chr12	53900648	53900648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggactcagccattcattcCtccaggatccctgggtattt	10	12	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:53900648C>T	uc001sdw.1	-	3	418	c.254G>A	c.(253-255)AGG>AAG	p.R85K		NM_003717	NP_003708	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide preproprotein	85					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0						CCATTCATTCCTCCAGGATCC	0.562													T	53900648	C	T	53900648	3	4	201	1	0	0	0	0	1	0	0	0	10576	681	24	4	91	4	NPFF	12	53900648	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	478762	53900648	79951247	187	110934											
OR6C70	390327	broad.mit.edu	37	chr12	55862995	55862995	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagttgtattacttgtctgAagcagaaaatatctttctaa	6	6	3	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:55862995A>T	uc010spn.1	-	1	928	c.928T>A	c.(928-930)TCA>ACA	p.S310T		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TACTTGTCTGAAGCAGAAAAT	0.308													T	55862995	A	T	55862995	3	4	201	1	0	0	0	0	1	0	0	0	11197	246	9	5	12	5	OR6C70	12	55862995	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	1962347	55862995	77988900	188	110935											
RDH5	5959	broad.mit.edu	37	chr12	56118266	56118266	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcctcctacctgccAgccagcctggtggatgctgt	11	16	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:56118266A>C	uc001shk.2	+	5	1077	c.894A>C	c.(892-894)CCA>CCC	p.P298P	RDH5_uc001shl.2_Silent_p.P298P	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	298					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)	CCTACCTGCCAGCCAGCCTGG	0.607											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	56118266	A	C	56118266	2	2	201	1	0	0	0	0	0	0	0	1	13195	175	7	5		5	RDH5	12	56118266	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	255271	56118266	77733629	189	110936											
RAB5B	5869	broad.mit.edu	37	chr12	56383868	56383868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctgcaatcgtggtttacGacattactaatcaggtaagt	9	7	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:56383868G>A	uc001siv.2	+	3	418	c.301G>A	c.(301-303)GAC>AAC	p.D101N	RAB5B_uc001siw.2_Missense_Mutation_p.D101N|RAB5B_uc009zog.2_Intron|RAB5B_uc010spz.1_Missense_Mutation_p.D101N	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	101					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CGTGGTTTACGACATTACTAA	0.348													A	56383868	G	A	56383868	3	1	201	1	0	0	0	0	1	0	0	0	12949	1058	37	1	307	1	RAB5B	12	56383868	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	265602	56383868	77468027	190	110937											
CS	1431	broad.mit.edu	37	chr12	56679734	56679734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcccaccaccgtcttgCcatgttgctgcctgaaagtc	9	14	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:56679734C>T	uc001sks.1	-	3	357	c.167G>A	c.(166-168)GGC>GAC	p.G56D	CS_uc010sql.1_Missense_Mutation_p.G43D|CS_uc001skr.1_5'UTR|CS_uc001skt.1_Missense_Mutation_p.G11D|CS_uc010sqm.1_5'UTR	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	56					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CACCGTCTTGCCATGTTGCTG	0.438													T	56679734	C	T	56679734	3	4	201	1	0	0	0	0	1	0	0	0	3924	739	26	2	1269	2	CS	12	56679734	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	295866	56679734	77172161	191	110938											
NAV3	89795	broad.mit.edu	37	chr12	78515734	78515734	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggttgtttggtgccaAggcaggtggcaaatctgcct	13	7	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:78515734A>T	uc001syp.2	+	16	3937	c.3764A>T	c.(3763-3765)AAG>ATG	p.K1255M	NAV3_uc001syo.2_Missense_Mutation_p.K1255M|NAV3_uc010sub.1_Missense_Mutation_p.K755M|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1255	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTTGGTGCCAAGGCAGGTGGC	0.443										HNSCC(70;0.22)			T	78515734	A	T	78515734	3	4	201	1	0	0	0	0	1	0	0	0	10185	72	3	5	3826	5	NAV3	12	78515734	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	21836000	78515734	55336161	192	110939											
PLEKHG7	440107	broad.mit.edu	37	chr12	93148040	93148040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggtggaaaagtccatcCgtaagtccctgagataagtg	11	7	0	1	rs115752910	by1000genomes	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:93148040C>T	uc001tcj.2	+	6	720	c.490C>T	c.(490-492)CGG>TGG	p.R164W		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	164	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						AAAGTCCATCCGTAAGTCCCT	0.438													T	93148040	C	T	93148040	3	4	201	1	0	0	0	0	1	0	0	0	12075	666	23	1	508	1	PLEKHG7	12	93148040	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	14632306	93148040	40703855	193	110940											
FGD6	55785	broad.mit.edu	37	chr12	95604081	95604081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatctacacacttttggcGtaacagacgagcagttcgtg	10	9	1	1	rs138823345	byFrequency	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:95604081G>A	uc001tdp.3	-	2	1203	c.979C>T	c.(979-981)CGC>TGC	p.R327C	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	327					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			ovary(2)|breast(1)	3						CACTTTTGGCGTAACAGACGA	0.408													A	95604081	G	A	95604081	3	1	201	1	0	0	0	0	1	0	0	0	5837	1145	40	1	3393	1	FGD6	12	95604081	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	2456041	95604081	38247814	194	110941											
STAB2	55576	broad.mit.edu	37	chr12	104157271	104157271	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcttgtctttccaaacagtCggaagaggacattaatgttg	10	7	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:104157271C>A	uc001tjw.2	+	68	7676	c.7490C>A	c.(7489-7491)TCG>TAG	p.S2497*	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2497	Cytoplasmic (Potential).				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			ovary(9)|skin(5)	14						TCCAAACAGTCGGAAGAGGAC	0.532													A	104157271	C	A	104157271	4	1	201	1	0	0	0	0	0	1	0	0	15237	898	31	5	7760	5	STAB2	12	104157271	Nonsense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	8553190	104157271	29694624	195	110942											
KSR2	283455	broad.mit.edu	37	chr12	118198882	118198882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatttgctccgatgcagcGcggtgaatcccgggatcaag	15	10	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:118198882G>A	uc001two.2	-	4	888	c.833C>T	c.(832-834)GCG>GTG	p.A278V		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	307					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGATGCAGCGCGGTGAATCC	0.667													A	118198882	G	A	118198882	3	1	201	1	0	0	0	0	1	0	0	0	8582	1087	38	1	2000	1	KSR2	12	118198882	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	14041611	118198882	15653013	196	110943											
CLIP1	6249	broad.mit.edu	37	chr12	122763599	122763599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctcagtttctccagctcGgcatccttttctgtgagtaa	7	11	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr12:122763599G>A	uc001ucg.1	-	21	3847	c.3741C>T	c.(3739-3741)GCC>GCT	p.A1247A	CLIP1_uc001uch.1_Silent_p.A1236A|CLIP1_uc001uci.1_Silent_p.A1201A|CLIP1_uc001ucj.1_Silent_p.A822A	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1247	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	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)		TCTCCAGCTCGGCATCCTTTT	0.458													A	122763599	G	A	122763599	2	1	201	1	0	0	0	0	0	0	0	1	3532	1103	39	1		1	CLIP1	12	122763599	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	4564717	122763599	11088296	197	110944											
ZDHHC20	253832	broad.mit.edu	37	chr13	22033233	22033233	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacgcgtagtaggaccagacGaccacgaaggtgatgaagag	14	8	0	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:22033233G>A	uc001uob.2	-	1	191	c.78C>T	c.(76-78)GTC>GTT	p.V26V	ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_5'UTR	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	26	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		AGGACCAGACGACCACGAAGG	0.602													A	22033233	G	A	22033233	2	1	201	1	0	0	0	0	0	0	0	1	17608	1045	37	1		1	ZDHHC20	13	22033233	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08		22033233	93136645	198	110945											
FAM123A	219287	broad.mit.edu	37	chr13	25744011	25744011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatacgggctttaaccGggacagggaggacgtctcct	15	9	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:25744011G>A	uc001uqb.2	-	1	1847	c.1747C>T	c.(1747-1749)CGG>TGG	p.R583W	FAM123A_uc001uqa.2_Missense_Mutation_p.R464W|FAM123A_uc001uqc.2_Missense_Mutation_p.R464W	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	583										ovary(2)|large_intestine(1)|lung(1)	4		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)		GGCTTTAACCGGGACAGGGAG	0.572													A	25744011	G	A	25744011	3	1	201	1	0	0	0	0	1	0	0	0	5422	1115	39	1	272	1	FAM123A	13	25744011	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3710778	25744011	89425867	199	110946											
NBEA	26960	broad.mit.edu	37	chr13	35733293	35733293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagacaacaggagcaaaAggtggaatggaaattcgaga	12	6	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:35733293A>C	uc001uvb.2	+	23	3191	c.2985A>C	c.(2983-2985)AAA>AAC	p.K995N	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	995						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CAGGAGCAAAAGGTGGAATGG	0.428													C	35733293	A	C	35733293	3	2	201	1	0	0	0	0	1	0	0	0	10187	69	3	5	3071	5	NBEA	13	35733293	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	9989282	35733293	79436585	200	110947											
MAB21L1	4081	broad.mit.edu	37	chr13	36049942	36049942	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtaatgaattccacccagaGggacatgctcctcttgcgcc	10	13	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:36049942G>C	uc001uvc.2	-	1	891	c.334C>G	c.(334-336)CTC>GTC	p.L112V	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	112					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		TCCACCCAGAGGGACATGCTC	0.577													C	36049942	G	C	36049942	3	2	201	1	0	0	0	0	1	0	0	0	9141	1000	35	5	749	5	MAB21L1	13	36049942	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	316649	36049942	79119936	201	110948											
CCNA1	8900	broad.mit.edu	37	chr13	37014128	37014128	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttcccaggaaatatgaagaGatatatcctcctgaagtaga	8	7	0	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:37014128G>A	uc001uvr.3	+	6	1256	c.906G>A	c.(904-906)GAG>GAA	p.E302E	CCNA1_uc010teo.1_Silent_p.E258E|CCNA1_uc010abq.2_Silent_p.E258E|CCNA1_uc010abp.2_Silent_p.E258E|CCNA1_uc001uvs.3_Silent_p.E301E|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	302					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			lung(2)|skin(2)|ovary(1)	5		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)		AATATGAAGAGATATATCCTC	0.418													A	37014128	G	A	37014128	2	1	201	1	0	0	0	0	0	0	0	1	2909	933	33	4		4	CCNA1	13	37014128	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	964186	37014128	78155750	202	110949											
SLITRK6	84189	broad.mit.edu	37	chr13	86370524	86370524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttattagcattgtgccatcTttttcctcacaattgcaaag	5	9	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:86370524T>G	uc001vll.1	-	2	579	c.120A>C	c.(118-120)AAA>AAC	p.K40N	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	40	LRRNT 1.|Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGTGCCATCTTTTTCCTCAC	0.383													G	86370524	T	G	86370524	3	3	201	1	0	0	0	0	1	0	0	0	14747	1606	56	5	2409	5	SLITRK6	13	86370524	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	49356396	86370524	28799354	203	110950											
FGF14	2259	broad.mit.edu	37	chr13	102527574	102527574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttggttccatcgagagctCcatcggggtgcatttgcaag	12	11	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:102527574C>A	uc001vpe.2	-	2	266	c.266G>T	c.(265-267)GGA>GTA	p.G89V	FGF14_uc001vpf.2_Missense_Mutation_p.G94V	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	89					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCGAGAGCTCCATCGGGGTG	0.448													A	102527574	C	A	102527574	3	1	201	1	0	0	0	0	1	0	0	0	5843	855	30	5	493	5	FGF14	13	102527574	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	16157050	102527574	12642304	204	110951											
F10	2159	broad.mit.edu	37	chr13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttccgcatgaacgtggCgcctgcctgcctccccgagc	10	19	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr13:113803380C>T	uc001vsx.2	+	8	1073	c.1016C>T	c.(1015-1017)GCG>GTG	p.A339V	F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	339	Peptidase S1.				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			pancreas(1)	1	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)	ATGAACGTGGCGCCTGCCTGC	0.637													T	113803380	C	T	113803380	3	4	201	1	0	0	0	0	1	0	0	0	5336	768	27	1	1046	1	F10	13	113803380	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	11275806	113803380	1366498	205	110952											
OR4M1	441670	broad.mit.edu	37	chr14	20249095	20249095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctgtagtagtggtcTgatctctgtggtgtgtttca	13	5	4	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:20249095T>C	uc010tku.1	+	1	614	c.614T>C	c.(613-615)CTG>CCG	p.L205P		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTAGTGGTCTGATCTCTGTG	0.473													C	20249095	T	C	20249095	3	2	201	1	0	0	0	0	1	0	0	0	11075	1580	55	3	616	3	OR4M1	14	20249095	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08		20249095	87100445	206	110953											
SALL2	6297	broad.mit.edu	37	chr14	21992247	21992247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgctactttctgccaCtccactgatggctgagccct	9	15	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:21992247C>T	uc001wbe.2	-	2	1897	c.1615G>A	c.(1615-1617)GTG>ATG	p.V539M	SALL2_uc010tly.1_Missense_Mutation_p.V537M|SALL2_uc010tlz.1_Missense_Mutation_p.V402M|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.V404M|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	539							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTTTCTGCCACTCCACTGATG	0.507													T	21992247	C	T	21992247	3	4	201	1	0	0	0	0	1	0	0	0	13811	565	20	4	1412	4	SALL2	14	21992247	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1743152	21992247	85357293	207	110954											
MYH7	4625	broad.mit.edu	37	chr14	23887536	23887536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcggccttggcctccGtctcctcctcgtactgctcc	9	19	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:23887536G>A	uc001wjx.2	-	30	4158	c.4052C>T	c.(4051-4053)ACG>ATG	p.T1351M	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGGCCTCCGTCTCCTCCTC	0.672													A	23887536	G	A	23887536	3	1	201	1	0	0	0	0	1	0	0	0	10039	1145	40	1	1799	1	MYH7	14	23887536	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	1895289	23887536	83462004	208	110955											
WDHD1	11169	broad.mit.edu	37	chr14	55467294	55467294	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatttccttccgcatcagtaTacgatattcgaccacaagta	6	11	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:55467294T>A	uc001xbm.1	-	10	947	c.869A>T	c.(868-870)TAT>TTT	p.Y290F	WDHD1_uc001xbn.1_Missense_Mutation_p.Y167F	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	290	WD 7.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CGCATCAGTATACGATATTCG	0.393													A	55467294	T	A	55467294	3	1	201	1	0	0	0	0	1	0	0	0	17268	1406	49	5	2588	5	WDHD1	14	55467294	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	31579758	55467294	51882246	209	110956											
SYT16	83851	broad.mit.edu	37	chr14	62550996	62550996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctgtctcatggaggggCgccagagctgttggtggggc	19	9	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:62550996C>T	uc001xfu.1	+	5	1714	c.1517C>T	c.(1516-1518)GCG>GTG	p.A506V	SYT16_uc010tse.1_Missense_Mutation_p.A64V	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	506										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CATGGAGGGGCGCCAGAGCTG	0.552													T	62550996	C	T	62550996	3	4	201	1	0	0	0	0	1	0	0	0	15469	768	27	1	1535	1	SYT16	14	62550996	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	7083702	62550996	44798544	210	110957											
SYNE2	23224	broad.mit.edu	37	chr14	64488618	64488618	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaacacagtatgatatTacttgagaatcaaataggtt	7	5	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:64488618T>G	uc001xgm.2	+	37	5626	c.5396T>G	c.(5395-5397)TTA>TGA	p.L1799*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.L1799*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1799	Potential.|Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTATGATATTACTTGAGAAT	0.308													G	64488618	T	G	64488618	4	3	201	1	0	0	0	0	0	1	0	0	15443	1764	61	5	5538	5	SYNE2	14	64488618	Nonsense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	1937622	64488618	42860922	211	110958											
FNTB	2342	broad.mit.edu	37	chr14	65507516	65507516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcttaggtgtcagaActgggaaggtggcattggcg	14	7	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:65507516A>G	uc001xia.2	+	8	866	c.701A>G	c.(700-702)AAC>AGC	p.N234S	FNTB_uc010tsl.1_Missense_Mutation_p.N268S|FNTB_uc010tsm.1_Missense_Mutation_p.N188S|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_5'UTR|FNTB_uc010tso.1_Missense_Mutation_p.N149S	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	234	PFTB 3.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGTGTCAGAACTGGGAAGGT	0.537													G	65507516	A	G	65507516	3	3	201	1	0	0	0	0	1	0	0	0	5978	43	2	3	731	3	FNTB	14	65507516	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	1018898	65507516	41842024	212	110959											
ACTN1	87	broad.mit.edu	37	chr14	69347567	69347567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgttgtcgaagatgagcGcctcctggatgagctggtgg	16	8	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:69347567G>A	uc001xkl.2	-	17	2403	c.2093C>T	c.(2092-2094)GCG>GTG	p.A698V	ACTN1_uc001xkk.2_Missense_Mutation_p.A294V|ACTN1_uc010ttb.1_Missense_Mutation_p.A633V|ACTN1_uc001xkm.2_Missense_Mutation_p.A698V|ACTN1_uc001xkn.2_Missense_Mutation_p.A698V|ACTN1_uc010ttc.1_Missense_Mutation_p.A283V	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	698	Spectrin 4.|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			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GAAGATGAGCGCCTCCTGGAT	0.582													A	69347567	G	A	69347567	3	1	201	1	0	0	0	0	1	0	0	0	204	1087	38	1	675	1	ACTN1	14	69347567	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3840051	69347567	38001973	213	110960											
FLRT2	23768	broad.mit.edu	37	chr14	86089096	86089096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgattcctgactgggatgGcagagaaagagtgaccccac	12	11	0	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:86089096G>A	uc001xvr.2	+	2	2005	c.1238G>A	c.(1237-1239)GGC>GAC	p.G413D	FLRT2_uc010atd.2_Missense_Mutation_p.G413D	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	413	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GACTGGGATGGCAGAGAAAGA	0.502													A	86089096	G	A	86089096	3	1	201	1	0	0	0	0	1	0	0	0	5939	1203	42	2	1240	2	FLRT2	14	86089096	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	16741529	86089096	21260444	214	110961											
EML1	2009	broad.mit.edu	37	chr14	100381009	100381009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggacgctgtgggtcaccGtcccgtctgggacaaaataa	13	11	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:100381009G>A	uc001ygs.2	+	15	1796	c.1727G>A	c.(1726-1728)CGT>CAT	p.R576H	EML1_uc010tww.1_Missense_Mutation_p.R564H|EML1_uc001ygr.2_Missense_Mutation_p.R595H	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	576	WD 6.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGGGTCACCGTCCCGTCTGG	0.438													A	100381009	G	A	100381009	3	1	201	1	0	0	0	0	1	0	0	0	5096	1145	40	1	1846	1	EML1	14	100381009	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	14291913	100381009	6968531	215	110962											
ADSSL1	122622	broad.mit.edu	37	chr14	105211180	105211180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagctggacatcctggacGtactgggtgaggttaaagtc	14	8	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:105211180G>A	uc001ypd.2	+	11	1179	c.1105G>A	c.(1105-1107)GTA>ATA	p.V369I	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.V412I|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	369					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		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)	CATCCTGGACGTACTGGGTGA	0.557													A	105211180	G	A	105211180	3	1	201	1	0	0	0	0	1	0	0	0	348	1145	40	1	1472	1	ADSSL1	14	105211180	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	4830171	105211180	2138360	216	110963											
AHNAK2	113146	broad.mit.edu	37	chr14	105408763	105408763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctgaggtgagtggtcTtcaggtccccctgcatggag	15	9	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr14:105408763T>C	uc010axc.1	-	7	13145	c.13025A>G	c.(13024-13026)AAG>AGG	p.K4342R	AHNAK2_uc001ypx.2_Missense_Mutation_p.K4242R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4342						nucleus				ovary(1)	1		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)			GTGAGTGGTCTTCAGGTCCCC	0.632													C	105408763	T	C	105408763	3	2	201	1	0	0	0	0	1	0	0	0	415	1609	56	3	4366	3	AHNAK2	14	105408763	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	197583	105408763	1940777	217	110964											
MKRN3	7681	broad.mit.edu	37	chr15	23811376	23811376	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctagcacggctgcgcacatCgagcccccgactcaggaagt	11	16	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr15:23811376C>T	uc001ywh.3	+	1	923	c.447C>T	c.(445-447)ATC>ATT	p.I149I	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.I149I	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	149						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		CTGCGCACATCGAGCCCCCGA	0.642													T	23811376	C	T	23811376	2	4	201	1	0	0	0	0	0	0	0	1	9608	874	31	1		1	MKRN3	15	23811376	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08		23811376	78720016	218	110965											
GABRB3	2562	broad.mit.edu	37	chr15	27184420	27184420	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggcatcattctcagcaatgAatgggaggtctcctcgtgcc	11	12	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr15:27184420A>T	uc001zbb.2	-	1	267	c.164T>A	c.(163-165)TTC>TAC	p.F55Y	GABRA5_uc001zbd.1_Intron	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	Error:Variant_position_missing_in_P28472_after_alignment					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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	CTCAGCAATGAATGGGAGGTC	0.582													T	27184420	A	T	27184420	3	4	201	1	0	0	0	0	1	0	0	0	6168	261	9	5		5	GABRB3	15	27184420	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	3373044	27184420	75346972	219	110966											
MYO5C	55930	broad.mit.edu	37	chr15	52517670	52517670	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgtgactgcacatgtttCtccacatctatcttctgtgc	6	11	4	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr15:52517670C>T	uc010bff.2	-	26	3404	c.3267G>A	c.(3265-3267)GAG>GAA	p.E1089E	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1089	Potential.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GCACATGTTTCTCCACATCTA	0.393													T	52517670	C	T	52517670	2	4	201	1	0	0	0	0	0	0	0	1	10080	912	32	4		4	MYO5C	15	52517670	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	25333250	52517670	50013722	220	110967											
MYO5C	55930	broad.mit.edu	37	chr15	52534277	52534277	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttgccaggaatcctcGgctgtaggcctgcattgtga	11	13	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr15:52534277G>A	uc010bff.2	-	20	2661	c.2524C>T	c.(2524-2526)CGA>TGA	p.R842*	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	842	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		AGGAATCCTCGGCTGTAGGCC	0.542													A	52534277	G	A	52534277	4	1	201	1	0	0	0	0	0	1	0	0	10080	1124	39	1	2792	1	MYO5C	15	52534277	Nonsense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	16607	52534277	49997115	221	110968											
NEDD4	4734	broad.mit.edu	37	chr15	56208746	56208746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaagatatccactgtacCttgttggctgtagtgaaatc	9	8	0	3	rs146216406		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr15:56208746C>T	uc002adj.2	-	1	584	c.284G>A	c.(283-285)AGG>AAG	p.R95K	NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.R95K|NEDD4_uc010ugj.1_Missense_Mutation_p.R95K|NEDD4_uc010bfm.2_Missense_Mutation_p.R95K|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	95	Ser-rich.				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			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCCACTGTACCTTGTTGGCTG	0.383													T	56208746	C	T	56208746	3	4	201	1	0	0	0	0	1	0	0	0	10310	681	24	4	3775	4	NEDD4	15	56208746	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	3674469	56208746	46322646	222	110969											
MEGF11	84465	broad.mit.edu	37	chr15	66209284	66209284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggggccccagaacccGggtgggcaagctgggatgtc	18	12	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr15:66209284G>A	uc002apm.2	-	17	2238	c.2097C>T	c.(2095-2097)CCC>CCT	p.P699P	MEGF11_uc002apl.2_Silent_p.P624P|MEGF11_uc002apn.1_Silent_p.P699P	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	699						basolateral plasma membrane|integral to membrane				pancreas(1)	1						CCCAGAACCCGGGTGGGCAAG	0.493											OREG0023198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66209284	G	A	66209284	2	1	201	1	0	0	0	0	0	0	0	1	9461	1103	39	1		1	MEGF11	15	66209284	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	10000538	66209284	36322108	223	110970											
ARNT2	9915	broad.mit.edu	37	chr15	80743252	80743252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatacctggatctgtgacGttgcccgttgcccccatggc	11	14	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr15:80743252G>A	uc002bfr.2	+	2	229	c.63G>A	c.(61-63)ACG>ACA	p.T21T	ARNT2_uc002bfq.2_Silent_p.T21T|ARNT2_uc010unm.1_Silent_p.T10T|ARNT2_uc002bfs.2_Silent_p.T10T	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	21					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			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			GATCTGTGACGTTGCCCGTTG	0.552													A	80743252	G	A	80743252	2	1	201	1	0	0	0	0	0	0	0	1	966	1132	40	1		1	ARNT2	15	80743252	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	14533968	80743252	21788140	224	110971											
MYH11	4629	broad.mit.edu	37	chr16	15797934	15797934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattttcaataactctacGtcctccagaccttctagaag	5	12	3	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:15797934G>A	uc002ddy.2	-	41	5940	c.5833C>T	c.(5833-5835)CGT>TGT	p.R1945C	MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.R1952C|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1945	Carboxyl-terminal.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						ATAACTCTACGTCCTCCAGAC	0.443			T	CBFB	AML								A	15797934	G	A	15797934	3	1	201	1	0	0	0	0	1	0	0	0	10031	1145	40	1	89	1	MYH11	16	15797934	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		15797934	74556819	225	110972											
SCNN1B	6338	broad.mit.edu	37	chr16	23360100	23360100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcaccctgctcttcgcCgccctcgtctgctggcagtg	10	18	3	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:23360100C>T	uc002dln.2	+	2	356	c.180C>T	c.(178-180)GCC>GCT	p.A60A		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	60	Helical; (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCTCTTCGCCGCCCTCGTCT	0.597													T	23360100	C	T	23360100	2	4	201	1	0	0	0	0	0	0	0	1	13928	639	23	1		1	SCNN1B	16	23360100	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	7562166	23360100	66994653	226	110973											
ATP2A1	487	broad.mit.edu	37	chr16	28890083	28890083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccggaccaagttaagCggaatctggagaaatacggc	11	11	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:28890083C>T	uc002dro.1	+	1	275	c.91C>T	c.(91-93)CGG>TGG	p.R31W	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R31W|ATP2A1_uc002drp.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	31	Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCAAGTTAAGCGGAATCTGGA	0.547													T	28890083	C	T	28890083	3	4	201	1	0	0	0	0	1	0	0	0	1136	759	27	1	93	1	ATP2A1	16	28890083	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	5529983	28890083	61464670	227	110974											
CBLN1	869	broad.mit.edu	37	chr16	49313471	49313471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcacgtcctggtcaccagcGaaggctgaaatcaccggcca	11	14	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:49313471G>A	uc002efq.2	-	3	765	c.426C>T	c.(424-426)TTC>TTT	p.F142F		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	142	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				GGTCACCAGCGAAGGCTGAAA	0.607													A	49313471	G	A	49313471	2	1	201	1	0	0	0	0	0	0	0	1	2704	1049	37	1		1	CBLN1	16	49313471	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	20423388	49313471	41041282	228	110975											
CDH8	1006	broad.mit.edu	37	chr16	61851476	61851476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgaacttcaagtaggtaaGtcggtgaagagaagaccgga	13	6	1	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:61851476G>T	uc002eog.1	-	7	1436	c.1184C>A	c.(1183-1185)ACT>AAT	p.T395N	CDH8_uc002eoh.2_Missense_Mutation_p.T164N	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	395	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		AAGTAGGTAAGTCGGTGAAGA	0.483													T	61851476	G	T	61851476	3	4	201	1	0	0	0	0	1	0	0	0	3116	1029	36	5	1239	5	CDH8	16	61851476	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	12538005	61851476	28503277	229	110976											
CDH11	1009	broad.mit.edu	37	chr16	64981966	64981966	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaatgagtggttctttcTtttgccttctcagggtcaca	9	9	4	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:64981966T>G	uc002eoi.2	-	13	2365	c.1931A>C	c.(1930-1932)AAG>ACG	p.K644T	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.K518T	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	644	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGTTCTTTCTTTTGCCTTCT	0.428			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	64981966	T	G	64981966	3	3	201	1	0	0	0	0	1	0	0	0	3097	1609	56	5	463	5	CDH11	16	64981966	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	3130490	64981966	25372787	230	110977											
HYDIN	54768	broad.mit.edu	37	chr16	70986528	70986528	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacgttttgacccacagcTgcctcctgggctataaggag	11	11	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:70986528T>G	uc002ezr.2	-	41	6452	c.6324A>C	c.(6322-6324)GCA>GCC	p.A2108A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2109										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GACCCACAGCTGCCTCCTGGG	0.468													G	70986528	T	G	70986528	2	3	201	1	0	0	0	0	0	0	0	1	7467	1567	55	5		5	HYDIN	16	70986528	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	6004562	70986528	19368225	231	110978											
NECAB2	54550	broad.mit.edu	37	chr16	84024157	84024157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttcctcctgaaggagaCggccaatcagatccagtcgc	10	15	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:84024157C>T	uc002fhd.2	+	6	535	c.518C>T	c.(517-519)ACG>ATG	p.T173M	NECAB2_uc002fhe.2_Missense_Mutation_p.T90M	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	173	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						CTGAAGGAGACGGCCAATCAG	0.597													T	84024157	C	T	84024157	3	4	201	1	0	0	0	0	1	0	0	0	10305	536	19	1	540	1	NECAB2	16	84024157	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	13037629	84024157	6330596	232	110979											
HSDL1	83693	broad.mit.edu	37	chr16	84163759	84163759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcccagagcttgtcctcGgacagctgagtgaaatactg	11	10	0	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr16:84163759G>A	uc002fhk.2	-	4	682	c.498C>T	c.(496-498)TCC>TCT	p.S166S	HSDL1_uc010vnv.1_Silent_p.S111S	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	166						mitochondrion	oxidoreductase activity|protein binding				0						GCTTGTCCTCGGACAGCTGAG	0.483													A	84163759	G	A	84163759	2	1	201	1	0	0	0	0	0	0	0	1	7393	1103	39	1		1	HSDL1	16	84163759	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	139602	84163759	6190994	233	110980											
OR3A2	4995	broad.mit.edu	37	chr17	3181605	3181605	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgatgaaacccacagcaaAgagcagcagctcattgagtt	9	10	1	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:3181605A>T	uc002fvg.2	-	1	664	c.625T>A	c.(625-627)TTT>ATT	p.F209I		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCCACAGCAAAGAGCAGCAGC	0.542													T	3181605	A	T	3181605	3	4	201	1	0	0	0	0	1	0	0	0	11038	72	3	5	344	5	OR3A2	17	3181605	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08		3181605	78013605	234	110981											
TP53	7157	broad.mit.edu	37	chr17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaggcacaaacacgcacctCaaagctgttccgtcccagta	7	15	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:7577127C>T	uc002gim.2	-	8	1005	c.811G>A	c.(811-813)GAG>AAG	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	271	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577127	C	T	7577127	3	4	201	1	0	0	0	0	1	0	0	0	16378	835	29	4	475	4	TP53	17	7577127	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	4395522	7577127	73618083	235	110982											
NCOR1	9611	broad.mit.edu	37	chr17	16042436	16042436	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttaatgaacttgactcgtCtttgttctgcatcaaacatc	6	9	3	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:16042436C>T	uc002gpo.2	-	12	1478	c.1238G>A	c.(1237-1239)AGA>AAA	p.R413K	NCOR1_uc002gpn.2_Missense_Mutation_p.R413K|NCOR1_uc002gpp.1_Missense_Mutation_p.R304K|NCOR1_uc002gpr.2_Missense_Mutation_p.R304K|NCOR1_uc002gps.1_Missense_Mutation_p.R422K|NCOR1_uc010coz.1_Missense_Mutation_p.R229K|NCOR1_uc010cpb.1_Missense_Mutation_p.R422K|NCOR1_uc010cpa.1_Missense_Mutation_p.R413K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	413					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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTGACTCGTCTTTGTTCTGC	0.358													T	16042436	C	T	16042436	3	4	201	1	0	0	0	0	1	0	0	0	10235	913	32	4	6224	4	NCOR1	17	16042436	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	8465309	16042436	65152774	236	110983											
ZNF624	57547	broad.mit.edu	37	chr17	16526150	16526150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccttcgttggtgcacggTaagctgtgatgtattagtga	13	6	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:16526150T>C	uc010cpi.1	-	6	2133	c.2050A>G	c.(2050-2052)ACC>GCC	p.T684A		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	684	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGTGCACGGTAAGCTGTGAT	0.383													C	16526150	T	C	16526150	3	2	201	1	0	0	0	0	1	0	0	0	18045	1638	57	3	551	3	ZNF624	17	16526150	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	483714	16526150	64669060	237	110984											
TOP3A	7156	broad.mit.edu	37	chr17	18208465	18208465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctcaaacccgatgttttCgccttctctatcacagtcag	5	13	4	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:18208465C>T	uc002gsx.1	-	5	689	c.460G>A	c.(460-462)GAA>AAA	p.E154K	TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.E52K|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	154	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						CCGATGTTTTCGCCTTCTCTA	0.468													T	18208465	C	T	18208465	3	4	201	1	0	0	0	0	1	0	0	0	16364	893	31	1	2605	1	TOP3A	17	18208465	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	1682315	18208465	62986745	238	110985											
NUFIP2	57532	broad.mit.edu	37	chr17	27613685	27613685	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccagaagagatgggtgttaGagtattagcagcagtagtta	13	5	0	3	rs140549572	by1000genomes	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:27613685G>C	uc002hdy.3	-	2	1416	c.1327C>G	c.(1327-1329)CTA>GTA	p.L443V	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	443						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATGGGTGTTAGAGTATTAGCA	0.438													C	27613685	G	C	27613685	3	2	201	1	0	0	0	0	1	0	0	0	10749	933	33	5	772	5	NUFIP2	17	27613685	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	9405220	27613685	53581525	239	110986											
G6PC	2538	broad.mit.edu	37	chr17	41063341	41063341	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcgagctggtcttctacgtCttgtccttctgcaagagtgc	11	11	4	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:41063341C>A	uc002icb.1	+	5	1051	c.972C>A	c.(970-972)GTC>GTA	p.V324V	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	324	Helical; (Potential).				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTCTACGTCTTGTCCTTCT	0.592									Glycogen_Storage_Disease_type_Ia				A	41063341	C	A	41063341	2	1	201	1	0	0	0	0	0	0	0	1	6143	900	32	5		5	G6PC	17	41063341	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	13449656	41063341	40131869	240	110987											
CACNG5	27091	broad.mit.edu	37	chr17	64880742	64880742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacaagtatgggtggtcGtttgccttcgccgccatctc	10	12	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:64880742G>A	uc010wqi.1	+	5	771	c.534G>A	c.(532-534)TCG>TCA	p.S178S	CACNG5_uc002jfr.2_Silent_p.S178S|CACNG5_uc010wqj.1_Silent_p.S178S	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	178	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGGGTGGTCGTTTGCCTTCG	0.562													A	64880742	G	A	64880742	2	1	201	1	0	0	0	0	0	0	0	1	2560	1132	40	1		1	CACNG5	17	64880742	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	23817401	64880742	16314468	241	110988											
BAIAP2	10458	broad.mit.edu	37	chr17	79077493	79077493	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggggccaagcccctgccGgtgccccccgagctggcacc	14	20	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:79077493G>T	uc002jzg.2	+	8	942	c.834G>T	c.(832-834)CCG>CCT	p.P278P	BAIAP2_uc002jyz.3_Silent_p.P278P|BAIAP2_uc002jza.2_Silent_p.P278P|BAIAP2_uc002jzc.2_Silent_p.P278P|BAIAP2_uc002jzb.2_Silent_p.P35P|BAIAP2_uc002jzd.2_Silent_p.P278P|BAIAP2_uc002jzf.2_Silent_p.P278P|BAIAP2_uc002jze.2_Silent_p.P311P|BAIAP2_uc010wuh.1_Silent_p.P200P|BAIAP2_uc002jzh.2_Silent_p.P279P|BAIAP2_uc010wui.1_Silent_p.P141P	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	278					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				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCCCCTGCCGGTGCCCCCCG	0.697													T	79077493	G	T	79077493	2	4	201	1	0	0	0	0	0	0	0	1	1301	1103	39	5		5	BAIAP2	17	79077493	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	14196751	79077493	2117717	242	110989											
PCYT2	5833	broad.mit.edu	37	chr17	79864773	79864773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggttccgcccaccagggCactgcaagccaagagaggga	15	12	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr17:79864773C>T	uc002kcf.1	-	7	602	c.539G>A	c.(538-540)TGC>TAC	p.C180Y	PCYT2_uc010wva.1_Missense_Mutation_p.C148Y|PCYT2_uc010wvb.1_Missense_Mutation_p.C148Y|PCYT2_uc002kce.1_Missense_Mutation_p.C102Y|PCYT2_uc002kcg.1_Missense_Mutation_p.C209Y|PCYT2_uc002kch.1_Missense_Mutation_p.C198Y|PCYT2_uc002kci.1_Missense_Mutation_p.C139Y|PCYT2_uc010dii.1_Missense_Mutation_p.C180Y|PCYT2_uc010wvc.1_Missense_Mutation_p.C102Y	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	180	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCCACCAGGGCACTGCAAGCC	0.632													T	79864773	C	T	79864773	3	4	201	1	0	0	0	0	1	0	0	0	11612	724	25	2	658	2	PCYT2	17	79864773	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	787280	79864773	1330437	243	110990											
RIT2	6014	broad.mit.edu	37	chr18	40323674	40323674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaagactcaagccttcTtctgtagaaacctaaggaaa	9	9	3	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr18:40323674T>G	uc002lav.2	-	5	611	c.438A>C	c.(436-438)GAA>GAC	p.E146D	RIT2_uc010dnf.2_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	146					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						TCAAGCCTTCTTCTGTAGAAA	0.348													G	40323674	T	G	40323674	3	3	201	1	0	0	0	0	1	0	0	0	13387	1606	56	5	219	5	RIT2	18	40323674	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08		40323674	37753574	244	110991											
OR2Z1	284383	broad.mit.edu	37	chr19	8841983	8841983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtgcctacgagatggCgctgtccacctcaggggtgc	13	13	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:8841983C>T	uc010xkg.1	+	1	593	c.593C>T	c.(592-594)GCG>GTG	p.A198V		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TACGAGATGGCGCTGTCCACC	0.562											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	8841983	C	T	8841983	3	4	201	1	0	0	0	0	1	0	0	0	11036	768	27	1	595	1	OR2Z1	19	8841983	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08		8841983	50287000	245	110992											
FBXL12	54850	broad.mit.edu	37	chr19	9922149	9922149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccaggccatggagatcTcgcagctgtgcagctccagg	15	12	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:9922149T>C	uc002mme.2	-	3	646	c.404A>G	c.(403-405)GAG>GGG	p.E135G	FBXL12_uc002mmd.2_Missense_Mutation_p.E82G|FBXL12_uc002mmf.2_Missense_Mutation_p.E82G|FBXL12_uc002mmg.2_Missense_Mutation_p.E82G|FBXL12_uc002mmh.2_Missense_Mutation_p.E82G	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	135							protein binding			lung(1)|kidney(1)	2						CATGGAGATCTCGCAGCTGTG	0.662													C	9922149	T	C	9922149	3	2	201	1	0	0	0	0	1	0	0	0	5708	1551	54	3	580	3	FBXL12	19	9922149	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	1080166	9922149	49206834	246	110993											
SLC1A6	6511	broad.mit.edu	37	chr19	15063786	15063786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatgtcttccgtgggcaAgccgaccgacgtaagcacaa	12	12	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:15063786A>T	uc002naa.1	-	8	1461	c.1453T>A	c.(1453-1455)TTG>ATG	p.L485M	SLC1A6_uc010dzu.1_Missense_Mutation_p.L407M|SLC1A6_uc010xod.1_Missense_Mutation_p.L421M	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	485	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	TCCGTGGGCAAGCCGACCGAC	0.577													T	15063786	A	T	15063786	3	4	201	1	0	0	0	0	1	0	0	0	14436	69	3	5	249	5	SLC1A6	19	15063786	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	5141637	15063786	44065197	247	110994											
NOTCH3	4854	broad.mit.edu	37	chr19	15289981	15289981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtatcctgggggacaggtGcagcggaaaccacccaccag	14	12	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:15289981G>A	uc002nan.2	-	22	3649	c.3573C>T	c.(3571-3573)TGC>TGT	p.C1191C	NOTCH3_uc002nao.1_Silent_p.C1139C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1191	Extracellular (Potential).|EGF-like 30; 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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGACAGGTGCAGCGGAAAC	0.642													A	15289981	G	A	15289981	2	1	201	1	0	0	0	0	0	0	0	1	10550	1311	46	2		2	NOTCH3	19	15289981	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	226195	15289981	43839002	248	110995											
SF4	57794	broad.mit.edu	37	chr19	19413155	19413155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctatgaacctggccaacTtttctgcaaggttcttgacc	8	13	2	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:19413155T>C	uc002nmh.2	-	7	808	c.806A>G	c.(805-807)AAG>AGG	p.K269R	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.K59R|SF4_uc002nmj.2_Missense_Mutation_p.K59R|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	269	SURP motif 2.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						CCTGGCCAACTTTTCTGCAAG	0.557													C	19413155	T	C	19413155	3	2	201	1	0	0	0	0	1	0	0	0	14155	1609	56	3	1163	3	SF4	19	19413155	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	4123174	19413155	39715828	249	110996											
ZNF493	284443	broad.mit.edu	37	chr19	21606405	21606405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactggacataagataattcAtaatggagaaaaaccctata	6	6	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:21606405A>G	uc002npx.2	+	2	840	c.560A>G	c.(559-561)CAT>CGT	p.H187R	ZNF493_uc002npw.2_Missense_Mutation_p.H315R|ZNF493_uc002npy.2_Missense_Mutation_p.H187R	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	187	C2H2-type 6; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGATAATTCATAATGGAGAA	0.333													G	21606405	A	G	21606405	3	3	201	1	0	0	0	0	1	0	0	0	17941	217	8	3	1021	3	ZNF493	19	21606405	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	2193250	21606405	37522578	250	110997											
ZNF43	7594	broad.mit.edu	37	chr19	21992435	21992435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtagctggcaaacattggTtaaatccattataacctcct	8	9	0	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:21992435T>C	uc002nqj.2	-	4	534	c.404A>G	c.(403-405)AAC>AGC	p.N135S	ZNF43_uc010ecv.2_Missense_Mutation_p.N129S|ZNF43_uc002nql.2_Missense_Mutation_p.N129S|ZNF43_uc002nqm.2_Missense_Mutation_p.N129S|ZNF43_uc002nqk.2_Missense_Mutation_p.N65S	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAAACATTGGTTAAATCCATT	0.308													C	21992435	T	C	21992435	3	2	201	1	0	0	0	0	1	0	0	0	17900	1725	60	3	2029	3	ZNF43	19	21992435	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	386030	21992435	37136548	251	110998											
ZNF257	113835	broad.mit.edu	37	chr19	22270892	22270892	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatgagaatttacaattaAgaaagggctgtaaaagtgtg	10	3	0	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:22270892A>C	uc010ecx.2	+	4	509	c.340A>C	c.(340-342)AGA>CGA	p.R114R	ZNF257_uc010ecy.2_Silent_p.R82R	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTACAATTAAGAAAGGGCTG	0.358													C	22270892	A	C	22270892	2	2	201	1	0	0	0	0	0	0	0	1	17797	64	3	5		5	ZNF257	19	22270892	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	278457	22270892	36858091	252	110999											
ZNF681	148213	broad.mit.edu	37	chr19	23927705	23927705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaatatgaattcttttaTgtttagtaaagattgaggat	7	4	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:23927705T>G	uc002nrk.3	-	4	789	c.647A>C	c.(646-648)CAT>CCT	p.H216P	ZNF681_uc002nrl.3_Missense_Mutation_p.H147P|ZNF681_uc002nrj.3_Missense_Mutation_p.H147P	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	216	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AATTCTTTTATGTTTAGTAAA	0.308													G	23927705	T	G	23927705	3	3	201	1	0	0	0	0	1	0	0	0	18085	1464	51	5	1294	5	ZNF681	19	23927705	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	1656813	23927705	35201278	253	111000											
ZNF536	9745	broad.mit.edu	37	chr19	31040340	31040340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggtcctcagggcctacAgttctgatggcttagcagcc	12	12	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:31040340A>G	uc002nsu.1	+	4	3952	c.3814A>G	c.(3814-3816)AGT>GGT	p.S1272G	ZNF536_uc010edd.1_Missense_Mutation_p.S1272G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CAGGGCCTACAGTTCTGATGG	0.557													G	31040340	A	G	31040340	3	3	201	1	0	0	0	0	1	0	0	0	17971	188	7	3	3824	3	ZNF536	19	31040340	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	7112635	31040340	28088643	254	111001											
ZNF569	148266	broad.mit.edu	37	chr19	37904498	37904499	+	Missense_Mutation	DNP	AT	AT	TA													ttaccacatttatcacatttAtaaggtttttctcctgtatg							TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:37904498_37904499AT>TA	uc002ogi.2	-	6	1619_1620	c.1061_1062AT>TA	c.(1060-1062)TAT>TTA	p.Y354L	ZNF569_uc002ogh.2_Missense_Mutation_p.Y195L|ZNF569_uc002ogj.2_Missense_Mutation_p.Y378L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	354	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCACATTTATAAGGTTTTTC	0.371													TA	37904499	AT	TA	37904498	3	4	201	1	0	0	0	0	1	0	0	0	17997	456	16	5	1002	5	ZNF569	19	37904498	Missense_Mutation	DNP	AT	TCGA-D7-5578-01A-01D-1600-08	6864158	37904498	21224485	255	111002											
RYR1	6261	broad.mit.edu	37	chr19	38945944	38945944	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactgctgcccactttgctGagtttgcaggggaggaggca	14	11	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:38945944G>A	uc002oit.2	+	14	1640	c.1510G>A	c.(1510-1512)GAG>AAG	p.E504K	RYR1_uc002oiu.2_Missense_Mutation_p.E504K	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	504	Cytoplasmic.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCACTTTGCTGAGTTTGCAGG	0.512													A	38945944	G	A	38945944	3	1	201	1	0	0	0	0	1	0	0	0	13768	1291	45	4	1564	4	RYR1	19	38945944	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	1041446	38945944	20183039	256	111003											
ZNF418	147686	broad.mit.edu	37	chr19	58437814	58437814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaactctcctgtgttcaaGgagactggagaagaatttcc	11	8	2	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:58437814G>T	uc002qqs.1	-	4	2027	c.1735C>A	c.(1735-1737)CTT>ATT	p.L579I	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.L494I	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CTGTGTTCAAGGAGACTGGAG	0.438													T	58437814	G	T	58437814	3	4	201	1	0	0	0	0	1	0	0	0	17892	1000	35	5	299	5	ZNF418	19	58437814	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	19491870	58437814	691169	257	111004											
ZNF329	79673	broad.mit.edu	37	chr19	58640356	58640356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccttcatacgatttcTtgcctcttttcattattttc	2	11	5	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr19:58640356T>G	uc002qrn.2	-	4	752	c.515A>C	c.(514-516)AAG>ACG	p.K172T	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		ATACGATTTCTTGCCTCTTTT	0.358													G	58640356	T	G	58640356	3	3	201	1	0	0	0	0	1	0	0	0	17844	1609	56	5	1114	5	ZNF329	19	58640356	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	202542	58640356	488627	258	111005											
NINL	22981	broad.mit.edu	37	chr20	25484648	25484648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactctagaagtagcgcGggctcatgactgaagaggcc	14	9	2	5	rs146594321		TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr20:25484648G>A	uc002wux.1	-	7	875	c.801C>T	c.(799-801)CCC>CCT	p.P267P	NINL_uc010gdn.1_Silent_p.P267P|NINL_uc010gdo.1_Silent_p.P107P|NINL_uc010ztf.1_Silent_p.P283P	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	267	EF-hand 4.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GAAGTAGCGCGGGCTCATGAC	0.478													A	25484648	G	A	25484648	2	1	201	1	0	0	0	0	0	0	0	1	10420	1103	39	1		1	NINL	20	25484648	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08		25484648	37540872	259	111006											
MYH7B	57644	broad.mit.edu	37	chr20	33578612	33578612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgctgcattgtccccaaCgagaacaaaaccccaggtag	9	14	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr20:33578612C>T	uc002xbi.1	+	21	2267	c.2175C>T	c.(2173-2175)AAC>AAT	p.N725N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	683	Myosin head-like.|Actin-binding (By similarity).					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTGTCCCCAACGAGAACAAAA	0.622													T	33578612	C	T	33578612	2	4	201	1	0	0	0	0	0	0	0	1	10040	535	19	1		1	MYH7B	20	33578612	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	8093964	33578612	29446908	260	111007											
PHF20	51230	broad.mit.edu	37	chr20	34459741	34459741	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaattacaagagatttcGactgtggaaggttcatattt	11	4	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr20:34459741G>A	uc002xek.1	+	9	1383	c.1272G>A	c.(1270-1272)TCG>TCA	p.S424S	PHF20_uc002xei.1_Silent_p.S424S|PHF20_uc010gfo.1_Silent_p.S424S|PHF20_uc002xej.1_Silent_p.S308S	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					AAGAGATTTCGACTGTGGAAG	0.378													A	34459741	G	A	34459741	2	1	201	1	0	0	0	0	0	0	0	1	11831	1045	37	1		1	PHF20	20	34459741	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	881129	34459741	28565779	261	111008											
SDC4	6385	broad.mit.edu	37	chr20	43955966	43955966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgcccaggtcatagcTgccttcatccttcttcttca	5	14	6	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr20:43955966T>C	uc002xnu.2	-	5	575	c.535A>G	c.(535-537)AGC>GGC	p.S179G	SDC4_uc010zws.1_Missense_Mutation_p.S107G	NM_002999	NP_002990	P31431	SDC4_HUMAN	syndecan 4 precursor	179	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity				0		Myeloproliferative disorder(115;0.0122)				AGGTCATAGCTGCCTTCATCC	0.532													C	43955966	T	C	43955966	3	2	201	1	0	0	0	0	1	0	0	0	13954	1580	55	3	65	3	SDC4	20	43955966	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	9496225	43955966	19069554	262	111009											
ZNF831	128611	broad.mit.edu	37	chr20	57767362	57767362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggacaacgtgcggcccCggaagaccgggctgtccaaa	14	13	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr20:57767362C>T	uc002yan.2	+	1	1288	c.1288C>T	c.(1288-1290)CGG>TGG	p.R430W		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	430						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CGTGCGGCCCCGGAAGACCGG	0.657													T	57767362	C	T	57767362	3	4	201	1	0	0	0	0	1	0	0	0	18182	643	23	1	1290	1	ZNF831	20	57767362	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	13811396	57767362	5258158	263	111010											
MYT1	4661	broad.mit.edu	37	chr20	62837128	62837128	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagacgtcaggacaggacgaGattcatcgccccgagacagc	13	12	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr20:62837128G>C	uc002yii.2	+	6	736	c.372G>C	c.(370-372)GAG>GAC	p.E124D	MYT1_uc002yih.2_Missense_Mutation_p.E124D|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	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			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GACAGGACGAGATTCATCGCC	0.592													C	62837128	G	C	62837128	3	2	201	1	0	0	0	0	1	0	0	0	10106	933	33	5	386	5	MYT1	20	62837128	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	5069766	62837128	188392	264	111011											
ADAMTS1	9510	broad.mit.edu	37	chr21	28211920	28211920	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactaccttgggctgcaaaaCgaagaagtagccaatgcctt	9	10	0	1	rs147119544	byFrequency	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr21:28211920C>G	uc002ymf.2	-	7	2469	c.2014G>C	c.(2014-2016)GTT>CTT	p.V672L		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	672	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GGCTGCAAAACGAAGAAGTAG	0.458													G	28211920	C	G	28211920	3	3	201	1	0	0	0	0	1	0	0	0	255	536	19	5	901	5	ADAMTS1	21	28211920	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08		28211920	19917975	265	111012											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709567	31709567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaagtcttgggtgggcaActgtttcccttgaggcttgc	13	8	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr21:31709567A>G	uc002ynx.1	-	1	446	c.420T>C	c.(418-420)AGT>AGC	p.S140S		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	140						intermediate filament				ovary(2)	2						TGGGTGGGCAACTGTTTCCCT	0.493													G	31709567	A	G	31709567	2	3	201	1	0	0	0	0	0	0	0	1	8544	40	2	3		3	KRTAP27-1	21	31709567	Silent	SNP	A	TCGA-D7-5578-01A-01D-1600-08	3497647	31709567	16420328	266	111013											
TTC3	7267	broad.mit.edu	37	chr21	38494204	38494204	+	Frame_Shift_Del	DEL	A	A	-													taaaagctcaaaaactctgtAaaaatgaccctgagggaatc							TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr21:38494203_38494203TA>T	uc002yvz.3	+	11	1092	c.987_987TA>T	c.(985-987)tgtfs	p.C329fs	TTC3_uc011aee.1_Frame_Shift_Del_p.C19fs|TTC3_uc002ywa.3_Frame_Shift_Del_p.C329fs|TTC3_uc002ywb.3_Frame_Shift_Del_p.C329fs|TTC3_uc010gnf.3_Frame_Shift_Del_p.C94fs|TTC3_uc002ywc.3_Frame_Shift_Del_p.C19fs|TTC3_uc011aed.1_Frame_Shift_Del_p.C19fs|TTC3_uc010gne.1_Frame_Shift_Del_p.C329fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	329					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)				AAAAACTCTGTAAAAATGACC	0.383													-	38494204	A	-	38494204	7	5	201	1	0	1	0	1	0	0	0	0	16694	363	13	0	1030	0	TTC3	21	38494204	Frame_Shift_Del	DEL	A	TCGA-D7-5578-01A-01D-1600-08	6784637	38494204	9635691	267	111014											
ITGB2	3689	broad.mit.edu	37	chr21	46326905	46326905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcttcctgggtttcagCgaggcttgtggggtccatga	16	8	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr21:46326905C>T	uc002zgd.2	-	3	297	c.253G>A	c.(253-255)GCT>ACT	p.A85T	ITGB2_uc002zge.2_Missense_Mutation_p.A85T|ITGB2_uc002zgf.3_Missense_Mutation_p.A85T|ITGB2_uc011afl.1_Missense_Mutation_p.A7T|ITGB2_uc010gpw.2_Missense_Mutation_p.A85T|ITGB2_uc002zgg.2_Missense_Mutation_p.A85T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	85	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGGTTTCAGCGAGGCTTGTG	0.627													T	46326905	C	T	46326905	3	4	201	1	0	0	0	0	1	0	0	0	7894	768	27	1	2108	1	ITGB2	21	46326905	Missense_Mutation	SNP	C	TCGA-D7-5578-01A-01D-1600-08	7832701	46326905	1802990	268	111015											
ADARB1	104	broad.mit.edu	37	chr21	46603400	46603400	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggagatgccagaatcttCtcaccacatgagccaatcct	8	12	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr21:46603400C>T	uc002zgy.2	+	7	1806	c.1371C>T	c.(1369-1371)TTC>TTT	p.F457F	ADARB1_uc002zgr.2_Silent_p.F457F|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.F457F|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.F457F|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	457	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CCAGAATCTTCTCACCACATG	0.433													T	46603400	C	T	46603400	2	4	201	1	0	0	0	0	0	0	0	1	282	912	32	4		4	ADARB1	21	46603400	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	276495	46603400	1526495	269	111016											
COL6A2	1292	broad.mit.edu	37	chr21	47532203	47532203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgctggccaacatgacGgagcagatccggcaggaccg	15	13	0	2	rs149480738	byFrequency	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr21:47532203G>A	uc002zia.1	+	3	508	c.426G>A	c.(424-426)ACG>ACA	p.T142T	COL6A2_uc002zhy.1_Silent_p.T142T|COL6A2_uc002zhz.1_Silent_p.T142T|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	142	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAACATGACGGAGCAGATCC	0.692													A	47532203	G	A	47532203	2	1	201	1	0	0	0	0	0	0	0	1	3700	1103	39	1		1	COL6A2	21	47532203	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	928803	47532203	597692	270	111017											
LZTR1	8216	broad.mit.edu	37	chr22	21347143	21347143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgccatgtacatcttcGggggcacggtggacaacaac	13	12	1	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr22:21347143G>A	uc002zto.2	+	11	1313	c.1210G>A	c.(1210-1212)GGG>AGG	p.G404R	LZTR1_uc002ztn.2_Missense_Mutation_p.G363R|LZTR1_uc011ahy.1_Missense_Mutation_p.G385R|LZTR1_uc010gsr.1_Missense_Mutation_p.G275R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	404	Kelch 6.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			GTACATCTTCGGGGGCACGGT	0.652													A	21347143	G	A	21347143	3	1	201	1	0	0	0	0	1	0	0	0	9137	1116	39	1	1252	1	LZTR1	22	21347143	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08		21347143	29957423	271	111018											
MGAT3	4248	broad.mit.edu	37	chr22	39883517	39883517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttctggaacaatgccccGgtcacgccccaggccagccc	9	17	2	0	rs143400156	byFrequency	TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr22:39883517G>A	uc003axv.3	+	2	404	c.165G>A	c.(163-165)CCG>CCA	p.P55P	MGAT3_uc010gxy.2_Silent_p.P55P	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	55	Lumenal (Potential).|Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					ACAATGCCCCGGTCACGCCCC	0.647													A	39883517	G	A	39883517	2	1	201	1	0	0	0	0	0	0	0	1	9544	1103	39	1		1	MGAT3	22	39883517	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08	18536374	39883517	11421049	272	111019											
CACNA1I	8911	broad.mit.edu	37	chr22	40036887	40036887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagacaaggggatgtggcCttgcccccatactaccagcc	11	14	0	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chr22:40036887C>T	uc003ayc.2	+	6	756	c.756C>T	c.(754-756)GCC>GCT	p.A252A	CACNA1I_uc003ayd.2_Silent_p.A252A|CACNA1I_uc003aye.2_Silent_p.A167A|CACNA1I_uc003ayf.2_Silent_p.A167A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	252	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGGATGTGGCCTTGCCCCCAT	0.597													T	40036887	C	T	40036887	2	4	201	1	0	0	0	0	0	0	0	1	2546	668	24	4		4	CACNA1I	22	40036887	Silent	SNP	C	TCGA-D7-5578-01A-01D-1600-08	153370	40036887	11267679	273	111020											
PDHA1	5160	broad.mit.edu	37	chrX	19372671	19372671	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggaaaagatgaggtctgcctGactttatatggcgatggtgc	14	6	1	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:19372671G>C	uc004czg.3	+	6	718	c.573G>C	c.(571-573)CTG>CTC	p.L191L	PDHA1_uc004czh.3_Silent_p.L226L|PDHA1_uc011mjc.1_Silent_p.L195L|PDHA1_uc011mjd.1_Intron|PDHA1_uc010nfk.2_Silent_p.L188L|PDHA1_uc010nfl.2_5'Flank	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	191					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)	AGGTCTGCCTGACTTTATATG	0.403													C	19372671	G	C	19372671	2	2	201	1	0	0	0	0	0	0	0	1	11664	1277	45	5		5	PDHA1	23	19372671	Silent	SNP	G	TCGA-D7-5578-01A-01D-1600-08		19372671	135897889	274	111021											
FAM123B	139285	broad.mit.edu	37	chrX	63409832	63409832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaccttgctcagccctcTcctttgacaggtcaaggctg	10	14	3	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:63409832T>G	uc004dvo.2	-	2	3608	c.3335A>C	c.(3334-3336)GAG>GCG	p.E1112A		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	1112					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTCAGCCCTCTCCTTTGACAG	0.572													G	63409832	T	G	63409832	3	3	201	1	0	0	0	0	1	0	0	0	5423	1551	54	5	76	5	FAM123B	23	63409832	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	44037161	63409832	91860728	275	111022											
AR	367	broad.mit.edu	37	chrX	66941796	66941796	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaagcactgctactcTtcagcattagtaagtgccta	8	10	2	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:66941796T>G	uc004dwu.1	+	6	3555	c.2440T>G	c.(2440-2442)TTC>GTC	p.F814V	AR_uc004dwv.1_Missense_Mutation_p.F282V	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	813	Ligand-binding.|Interaction with MYST2.				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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	ACTGCTACTCTTCAGCATTAG	0.488									Androgen_Insensitivity_Syndrome				G	66941796	T	G	66941796	3	3	201	1	0	0	0	0	1	0	0	0	836	1609	56	5	2486	5	AR	23	66941796	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	3531964	66941796	88328764	276	111023											
HDAC8	55869	broad.mit.edu	37	chrX	71549911	71549911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctgtcaactagaccAcatgcttcagattccctgca	5	14	4	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:71549911A>G	uc004eau.2	-	11	1169	c.1127T>C	c.(1126-1128)GTG>GCG	p.V376A	HDAC8_uc011mqe.1_Missense_Mutation_p.V233A|HDAC8_uc011mqf.1_Missense_Mutation_p.V181A|HDAC8_uc011mqg.1_Missense_Mutation_p.V285A	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	376					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				0	Renal(35;0.156)				Vorinostat(DB02546)	CAACTAGACCACATGCTTCAG	0.348													G	71549911	A	G	71549911	3	3	201	1	0	0	0	0	1	0	0	0	7013	159	6	3	10	3	HDAC8	23	71549911	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	4608115	71549911	83720649	277	111024											
ATRX	546	broad.mit.edu	37	chrX	76944359	76944359	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctataaatggaatctttTtgaaaatgattgacctgttg	8	4	2	3			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:76944359T>C	uc004ecp.3	-	7	778	c.546A>G	c.(544-546)CAA>CAG	p.Q182Q	ATRX_uc004ecq.3_Silent_p.Q144Q|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Silent_p.Q143Q|ATRX_uc010nlx.1_Silent_p.Q182Q|ATRX_uc010nly.1_Silent_p.Q127Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	182	ADD.|GATA-type; atypical.		Missing (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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TGGAATCTTTTTGAAAATGAT	0.313			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76944359	T	C	76944359	2	2	201	1	0	0	0	0	0	0	0	1	1208	1838	64	3		3	ATRX	23	76944359	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	5394448	76944359	78326201	278	111025											
CYLC1	1538	broad.mit.edu	37	chrX	83124879	83124879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttttaataggctaaaAgtaaacatcagaacatatga	5	6	3	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:83124879A>C	uc004eei.1	+	2	45	c.24A>C	c.(22-24)AAA>AAC	p.K8N	CYLC1_uc004eeh.1_Missense_Mutation_p.K7N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	8					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ATAGGCTAAAAGTAAACATCA	0.214													C	83124879	A	C	83124879	3	2	201	1	0	0	0	0	1	0	0	0	4141	69	3	5	30	5	CYLC1	23	83124879	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	6180520	83124879	72145681	279	111026											
CYLC1	1538	broad.mit.edu	37	chrX	83129288	83129288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtctactgatgctgaattTgatgaatcttccaagacagg	10	7	2	5			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:83129288T>C	uc004eei.1	+	4	1593	c.1572T>C	c.(1570-1572)TTT>TTC	p.F524F	CYLC1_uc004eeh.1_Silent_p.F523F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	524	7.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ATGCTGAATTTGATGAATCTT	0.353													C	83129288	T	C	83129288	2	2	201	1	0	0	0	0	0	0	0	1	4141	1809	63	3		3	CYLC1	23	83129288	Silent	SNP	T	TCGA-D7-5578-01A-01D-1600-08	4409	83129288	72141272	280	111027											
DACH2	117154	broad.mit.edu	37	chrX	85950165	85950165	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatccactgcagcagaAccacctgctaaccaatagta	5	15	1	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:85950165A>T	uc004eew.2	+	5	1084	c.914A>T	c.(913-915)AAC>ATC	p.N305I	DACH2_uc004eex.2_Missense_Mutation_p.N292I|DACH2_uc010nmq.2_Missense_Mutation_p.N171I|DACH2_uc011mra.1_Missense_Mutation_p.N138I|DACH2_uc010nmr.2_Missense_Mutation_p.N86I	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						CTGCAGCAGAACCACCTGCTA	0.512													T	85950165	A	T	85950165	3	4	201	1	0	0	0	0	1	0	0	0	4221	43	2	5	932	5	DACH2	23	85950165	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	2820877	85950165	69320395	281	111028											
FAM133A	286499	broad.mit.edu	37	chrX	92965165	92965165	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtcacaagtcaaggtaAcatcaagaaaaaaagcaaga	7	7	4	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:92965165A>T	uc004efr.1	+	4	1060	c.747A>T	c.(745-747)TAA>TAT	p.*249Y		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	249											0						AGTCAAGGTAACATCAAGAAA	0.284													T	92965165	A	T	92965165	4	4	201	1	0	0	0	0	0	0	0	0	5443	50	2	5	749	5	FAM133A	23	92965165	Nonstop_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	7015000	92965165	62305395	282	111029											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104512136	104512136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgctcttctgatccaagaAgttcaagaagaagatggagg	11	6	3	5			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:104512136A>C	uc004elz.1	+	5	1365	c.609A>C	c.(607-609)GAA>GAC	p.E203D		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	203	Ig-like C2-type 2.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TGATCCAAGAAGTTCAAGAAG	0.333													C	104512136	A	C	104512136	3	2	201	1	0	0	0	0	1	0	0	0	7662	69	3	5	623	5	IL1RAPL2	23	104512136	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	11546971	104512136	50758424	283	111030											
MUM1L1	139221	broad.mit.edu	37	chrX	105450084	105450084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctcagcagttatgtctgTgcattctgcagtcaaagagg	10	8	4	1			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:105450084T>C	uc004emf.1	+	4	1308	c.659T>C	c.(658-660)GTG>GCG	p.V220A	MUM1L1_uc004emg.1_Missense_Mutation_p.V220A	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	220										ovary(2)|pancreas(1)|skin(1)	4						GTTATGTCTGTGCATTCTGCA	0.388													C	105450084	T	C	105450084	3	2	201	1	0	0	0	0	1	0	0	0	9986	1696	59	3	661	3	MUM1L1	23	105450084	Missense_Mutation	SNP	T	TCGA-D7-5578-01A-01D-1600-08	937948	105450084	49820476	284	111031											
MAGEC3	139081	broad.mit.edu	37	chrX	140985099	140985099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccctgactgatatggaccccGacaaccactcctatttcttt	5	15	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:140985099G>T	uc011mwp.1	+	7	1555	c.1555G>T	c.(1555-1557)GAC>TAC	p.D519Y	MAGEC3_uc004fbs.2_Missense_Mutation_p.D221Y|MAGEC3_uc010nsj.2_Missense_Mutation_p.D221Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	519	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TATGGACCCCGACAACCACTC	0.443													T	140985099	G	T	140985099	3	4	201	1	0	0	0	0	1	0	0	0	9182	1058	37	5	1810	5	MAGEC3	23	140985099	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	35535015	140985099	14285461	285	111032											
AFF2	2334	broad.mit.edu	37	chrX	148039901	148039901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaagatccctgagaagaAgcagcgcctggaggaggcca	15	9	0	4			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:148039901A>C	uc004fcp.2	+	12	3082	c.2603A>C	c.(2602-2604)AAG>ACG	p.K868T	AFF2_uc004fcq.2_Missense_Mutation_p.K858T|AFF2_uc004fcr.2_Missense_Mutation_p.K829T|AFF2_uc011mxb.1_Missense_Mutation_p.K833T|AFF2_uc004fcs.2_Missense_Mutation_p.K835T|AFF2_uc011mxc.1_Missense_Mutation_p.K509T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	868					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAAGAAGCAGCGCCTG	0.488													C	148039901	A	C	148039901	3	2	201	1	0	0	0	0	1	0	0	0	357	72	3	5	2704	5	AFF2	23	148039901	Missense_Mutation	SNP	A	TCGA-D7-5578-01A-01D-1600-08	7054802	148039901	7230659	286	111033											
GABRQ	55879	broad.mit.edu	37	chrX	151820193	151820193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggcgacacaggagaccccGaagagtcattgcccgctacc	11	14	1	2			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:151820193G>A	uc004ffp.1	+	8	1126	c.1106G>A	c.(1105-1107)CGA>CAA	p.R369Q		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	369						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			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGACCCCGAAGAGTCATT	0.517													A	151820193	G	A	151820193	3	1	201	1	0	0	0	0	1	0	0	0	6175	1058	37	1	1136	1	GABRQ	23	151820193	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	3780292	151820193	3450367	287	111034											
MAGEA6	4105	broad.mit.edu	37	chrX	151869646	151869646	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagcagcactcagtaggaaGgtggccaagttggttcattt	12	8	2	0			TCGA-D7-5578-01A-01D-1600-08	TCGA-D7-5578-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bdfaa5-34ef-4073-86a5-257566dd7181	aef1712d-397b-4383-b9fa-d39322bd61ca	g.chrX:151869646G>C	uc004ffq.1	+	3	530	c.336G>C	c.(334-336)AAG>AAC	p.K112N	MAGEA6_uc004ffr.1_Missense_Mutation_p.K112N|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	112	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTAGGAAGGTGGCCAAGT	0.542													C	151869646	G	C	151869646	3	2	201	1	0	0	0	0	1	0	0	0	9170	991	35	5	338	5	MAGEA6	23	151869646	Missense_Mutation	SNP	G	TCGA-D7-5578-01A-01D-1600-08	49453	151869646	3400914	288	111035											
PTCHD2	57540	broad.mit.edu	37	chr1	11596541	11596541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagattgtggcactcaacaCgggcgtgtccatcctctaca	9	13	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:11596541C>T	uc001ash.3	+	21	4115	c.3977C>T	c.(3976-3978)ACG>ATG	p.T1326M		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1326	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		GCACTCAACACGGGCGTGTCC	0.607													T	11596541	C	T	11596541	3	4	202	1	0	0	0	0	1	0	0	0	12733	536	19	1	4055	1	PTCHD2	1	11596541	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08		11596541	237654080	1	111036											
MTHFR	4524	broad.mit.edu	37	chr1	11851278	11851278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccttccagaacatgaAgctgacgggatccactacgg	9	12	0	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:11851278A>G	uc001atc.1	-	11	1922	c.1738T>C	c.(1738-1740)TTC>CTC	p.F580L	MTHFR_uc001atb.1_Missense_Mutation_p.F603L	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	580					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	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)	CAGAACATGAAGCTGACGGGA	0.592													G	11851278	A	G	11851278	3	3	202	1	0	0	0	0	1	0	0	0	9931	72	3	3	240	3	MTHFR	1	11851278	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	254737	11851278	237399343	2	111037											
CCDC21	64793	broad.mit.edu	37	chr1	26584166	26584166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagccagcacagtggatcAgcatcttgaacagtaatgaa	10	8	2	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:26584166A>G	uc001bls.1	+	5	1113	c.982A>G	c.(982-984)AGC>GGC	p.S328G	CCDC21_uc001blr.2_Missense_Mutation_p.S328G|CCDC21_uc010ofa.1_Missense_Mutation_p.S277G	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	328						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGGATCAGCATCTTGAA	0.507													G	26584166	A	G	26584166	3	3	202	1	0	0	0	0	1	0	0	0	2796	188	7	3	996	3	CCDC21	1	26584166	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	14732888	26584166	222666455	3	111038											
ZMYM6	9204	broad.mit.edu	37	chr1	35457896	35457896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccttggtctgtgtgacGggtttgcatgatatgccttt	14	7	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:35457896G>A	uc001byh.2	-	15	2313	c.2085C>T	c.(2083-2085)CCC>CCT	p.P695P	ZMYM6_uc001byf.1_Silent_p.P695P|ZMYM6_uc010oht.1_Silent_p.P598P|ZMYM6_uc009vup.2_Silent_p.P501P|ZMYM6_uc009vuq.1_Silent_p.P695P	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	695					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCTGTGTGACGGGTTTGCATG	0.428													A	35457896	G	A	35457896	2	1	202	1	0	0	0	0	0	0	0	1	17701	1103	39	1		1	ZMYM6	1	35457896	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	8873730	35457896	213792725	4	111039											
RLF	6018	broad.mit.edu	37	chr1	40705333	40705333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggatggaggtcagaaaggGtgcatagaaagcagctcagt	16	5	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:40705333G>A	uc001cfc.3	+	8	4990	c.4959G>A	c.(4957-4959)GGG>GGA	p.G1653G	RLF_uc001cfd.3_Silent_p.G1344G	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1653					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			ovary(2)|pancreas(1)	3	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)			GTCAGAAAGGGTGCATAGAAA	0.468													A	40705333	G	A	40705333	2	1	202	1	0	0	0	0	0	0	0	1	13389	1248	44	4		4	RLF	1	40705333	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	5247437	40705333	208545288	5	111040											
RNF220	55182	broad.mit.edu	37	chr1	44878227	44878227	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgacacagagtctccccactTgcgcttctcagatgcagatg	9	13	2	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:44878227T>A	uc001clv.1	+	2	818	c.458T>A	c.(457-459)TTG>TAG	p.L153*	RNF220_uc001clw.1_Nonsense_Mutation_p.L153*	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	153					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCTCCCCACTTGCGCTTCTCA	0.542													A	44878227	T	A	44878227	4	1	202	1	0	0	0	0	0	1	0	0	13483	1821	63	5	460	5	RNF220	1	44878227	Nonsense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	4172894	44878227	204372394	6	111041											
PRKACB	5567	broad.mit.edu	37	chr1	84650783	84650783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctttttatttgttcatagGataattctaatttatacatg	4	5	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:84650783G>T	uc001djj.2	+	5	601	c.337G>T	c.(337-339)GAT>TAT	p.D113Y	PRKACB_uc001djl.2_Missense_Mutation_p.D160Y|PRKACB_uc010ort.1_Missense_Mutation_p.D120Y|PRKACB_uc001djn.2_Missense_Mutation_p.D117Y|PRKACB_uc010oru.1_Missense_Mutation_p.D101Y|PRKACB_uc001djp.2_Missense_Mutation_p.D119Y|PRKACB_uc001djq.2_Missense_Mutation_p.D83Y|PRKACB_uc010orv.1_Missense_Mutation_p.D100Y|PRKACB_uc001dji.2_Missense_Mutation_p.D113Y|PRKACB_uc001djk.2_Missense_Mutation_p.D160Y|PRKACB_uc009wcf.1_Missense_Mutation_p.D119Y	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	113	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			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTGTTCATAGGATAATTCTAA	0.274													T	84650783	G	T	84650783	3	4	202	1	0	0	0	0	1	0	0	0	12498	1188	41	5	546	5	PRKACB	1	84650783	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	39772556	84650783	164599838	7	111042											
BRDT	676	broad.mit.edu	37	chr1	92467670	92467670	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggtgatagtgacacaacGatgttagaatctgaatgtca	10	6	3	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:92467670G>A	uc001dok.3	+	16	2701	c.2352G>A	c.(2350-2352)ACG>ACA	p.T784T	BRDT_uc001dol.3_Silent_p.T784T|BRDT_uc010osz.1_Silent_p.T788T|BRDT_uc009wdf.2_Silent_p.T711T|BRDT_uc010ota.1_Silent_p.T738T|BRDT_uc010otb.1_Silent_p.T738T|BRDT_uc001dom.3_Silent_p.T784T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTGACACAACGATGTTAGAAT	0.348													A	92467670	G	A	92467670	2	1	202	1	0	0	0	0	0	0	0	1	1508	1045	37	1		1	BRDT	1	92467670	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	7816887	92467670	156782951	8	111043											
NPR1	4881	broad.mit.edu	37	chr1	153661701	153661701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcgtggggagacggtgCaggccgaagcctttgacagt	17	8	0	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:153661701C>A	uc001fcs.3	+	17	3023	c.2602C>A	c.(2602-2604)CAG>AAG	p.Q868K	NPR1_uc010pdz.1_Missense_Mutation_p.Q614K|NPR1_uc010pea.1_Missense_Mutation_p.Q346K	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	868	Cytoplasmic (Potential).				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			ovary(3)|lung(2)|stomach(1)|breast(1)	7	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)	GGAGACGGTGCAGGCCGAAGC	0.602													A	153661701	C	A	153661701	3	1	202	1	0	0	0	0	1	0	0	0	10594	711	25	5	2668	5	NPR1	1	153661701	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	61194031	153661701	95588920	9	111044											
RUSC1	23623	broad.mit.edu	37	chr1	155300220	155300220	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgggctctctgtgatcacaCtgctgcaagacctgaccagt	11	13	2	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:155300220C>G	uc001fkj.2	+	10	2796	c.2567C>G	c.(2566-2568)ACT>AGT	p.T856S	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.T750S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.T387S|RUSC1_uc001fkl.2_Missense_Mutation_p.T446S|RUSC1_uc001fkp.2_Missense_Mutation_p.T387S|RUSC1_uc001fkq.2_Missense_Mutation_p.T281S|RUSC1_uc010pgb.1_Missense_Mutation_p.T354S|RUSC1_uc009wqp.1_Missense_Mutation_p.T381S|RUSC1_uc001fkn.2_Missense_Mutation_p.T165S|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.T387S|RUSC1_uc001fks.2_Missense_Mutation_p.T123S	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	856	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	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)			TGTGATCACACTGCTGCAAGA	0.632													G	155300220	C	G	155300220	3	3	202	1	0	0	0	0	1	0	0	0	13750	565	20	5	2732	5	RUSC1	1	155300220	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	1638519	155300220	93950401	10	111045											
SPTA1	6708	broad.mit.edu	37	chr1	158617463	158617463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcctcagtggcatcTggatgggactcactgagccg	14	11	3	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:158617463T>C	uc001fst.1	-	27	3961	c.3762A>G	c.(3760-3762)CCA>CCG	p.P1254P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1254	Spectrin 12.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAGTGGCATCTGGATGGGACT	0.532													C	158617463	T	C	158617463	2	2	202	1	0	0	0	0	0	0	0	1	15115	1567	55	3		3	SPTA1	1	158617463	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	3317243	158617463	90633158	11	111046											
OR10J1	26476	broad.mit.edu	37	chr1	159409696	159409696	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactatacatcttaaccTtagcaggcaatatcatcatt	4	10	3	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:159409696T>G	uc010piv.1	+	1	148	c.148T>G	c.(148-150)TTA>GTA	p.L50V	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	50	Helical; Name=1; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CATCTTAACCTTAGCAGGCAA	0.438													G	159409696	T	G	159409696	3	3	202	1	0	0	0	0	1	0	0	0	10910	1606	56	5	150	5	OR10J1	1	159409696	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	792233	159409696	89840925	12	111047											
DNM3	26052	broad.mit.edu	37	chr1	171956837	171956837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcaaaggaaagaaatttacaGattttgatgaagttcgcctt	9	5	0	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:171956837G>C	uc001gie.2	+	3	453	c.277G>C	c.(277-279)GAT>CAT	p.D93H	DNM3_uc001gid.3_Missense_Mutation_p.D93H|DNM3_uc009wwb.2_Missense_Mutation_p.D93H|DNM3_uc001gif.2_Missense_Mutation_p.D93H	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	93					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						GAAATTTACAGATTTTGATGA	0.333													C	171956837	G	C	171956837	3	2	202	1	0	0	0	0	1	0	0	0	4673	942	33	5	287	5	DNM3	1	171956837	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	12547141	171956837	77293784	13	111048											
RASAL2	9462	broad.mit.edu	37	chr1	178269224	178269224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgagggtcagtttcccgAgtacccaccagagggcgcca	12	14	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:178269224A>C	uc001glq.2	+	3	1192	c.428A>C	c.(427-429)GAG>GCG	p.E143A	RASAL2_uc009wxb.2_Missense_Mutation_p.E143A	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAGTTTCCCGAGTACCCACCA	0.478											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	178269224	A	C	178269224	3	2	202	1	0	0	0	0	1	0	0	0	13064	304	11	5	438	5	RASAL2	1	178269224	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	6312387	178269224	70981397	14	111049											
HMCN1	83872	broad.mit.edu	37	chr1	186038897	186038897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgataaagcactatgaagTgaaggtgtacagtaagttct	10	4	1	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:186038897T>C	uc001grq.1	+	51	8211	c.7982T>C	c.(7981-7983)GTG>GCG	p.V2661A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2661	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACTATGAAGTGAAGGTGTAC	0.383													C	186038897	T	C	186038897	3	2	202	1	0	0	0	0	1	0	0	0	7220	1696	59	3	8184	3	HMCN1	1	186038897	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	7769673	186038897	63211724	15	111050											
CACNA1S	779	broad.mit.edu	37	chr1	201058563	201058563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggcgcagggcgatggCtcttcattctccaccgtggc	13	14	3	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:201058563C>A	uc001gvv.2	-	6	950	c.723G>T	c.(721-723)GAG>GAT	p.E241D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	241	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGGCGATGGCTCTTCATTCT	0.602													A	201058563	C	A	201058563	3	1	202	1	0	0	0	0	1	0	0	0	2547	796	28	5	5054	5	CACNA1S	1	201058563	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	15019666	201058563	48192058	16	111051											
FCAMR	83953	broad.mit.edu	37	chr1	207135614	207135614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttttcacttccaatgCcgcagaggtagcatccgatg	10	10	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:207135614C>T	uc001hfa.3	-	5	1096	c.596G>A	c.(595-597)GGC>GAC	p.G199D	FCAMR_uc001hfb.2_Missense_Mutation_p.G199D|FCAMR_uc009xca.1_Missense_Mutation_p.G199D|FCAMR_uc001hfc.2_Missense_Mutation_p.G174D	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	154	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						ACTTCCAATGCCGCAGAGGTA	0.527													T	207135614	C	T	207135614	3	4	202	1	0	0	0	0	1	0	0	0	5772	739	26	2	1153	2	FCAMR	1	207135614	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	6077051	207135614	42115007	17	111052											
USH2A	7399	broad.mit.edu	37	chr1	216138706	216138706	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaggactgagtgtgttaagAgtccattagggcgaaaaggt	14	4	0	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:216138706A>T	uc001hku.1	-	37	7460	c.7073T>A	c.(7072-7074)CTC>CAC	p.L2358H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2358	Extracellular (Potential).|Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGTGTTAAGAGTCCATTAGG	0.398										HNSCC(13;0.011)			T	216138706	A	T	216138706	3	4	202	1	0	0	0	0	1	0	0	0	17033	304	11	5	8679	5	USH2A	1	216138706	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	9003092	216138706	33111915	18	111053											
C1orf131	128061	broad.mit.edu	37	chr1	231362782	231362782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttccttttccataaccCgtgataccaaaccggtgcac	5	15	0	1	rs144671689	byFrequency	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:231362782C>T	uc001hun.1	-	4	580	c.543G>A	c.(541-543)ACG>ACA	p.T181T	C1orf131_uc001hul.2_Silent_p.T181T|C1orf131_uc001hum.2_Silent_p.T180T|C1orf131_uc010pwd.1_Silent_p.T180T	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	181										central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCATAACCCGTGATACCAA	0.478													T	231362782	C	T	231362782	2	4	202	1	0	0	0	0	0	0	0	1	1998	639	23	1		1	C1orf131	1	231362782	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	15224076	231362782	17887839	19	111054											
OR2T6	254879	broad.mit.edu	37	chr1	248551739	248551739	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agataaggtcttctctgcctTttataccatcctcacaccct	4	14	3	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:248551739T>G	uc001iei.1	+	1	830	c.830T>G	c.(829-831)TTT>TGT	p.F277C		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			TTCTCTGCCTTTTATACCATC	0.468													G	248551739	T	G	248551739	3	3	202	1	0	0	0	0	1	0	0	0	11029	1841	64	5	832	5	OR2T6	1	248551739	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	17188957	248551739	698882	20	111055											
AGBL5	60509	broad.mit.edu	37	chr2	27293108	27293108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccctaaatctcccccaCtgactgtttctccccgggtc	6	17	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:27293108C>A	uc002rie.2	+	15	2855	c.2638C>A	c.(2638-2640)CTG>ATG	p.L880M	AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	880					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCCCCACTGACTGTTTC	0.502													A	27293108	C	A	27293108	3	1	202	1	0	0	0	0	1	0	0	0	378	564	20	5	2757	5	AGBL5	2	27293108	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08		27293108	215906265	21	111056											
CEBPZ	10153	broad.mit.edu	37	chr2	37442041	37442041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatagtacctgtggaaaaacActtcatccactggtatttgg	8	8	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:37442041A>T	uc002rpz.2	-	9	2465	c.2435T>A	c.(2434-2436)GTG>GAG	p.V812E		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	812					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				GTGGAAAAACACTTCATCCAC	0.284													T	37442041	A	T	37442041	3	4	202	1	0	0	0	0	1	0	0	0	3204	159	6	5	761	5	CEBPZ	2	37442041	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	10148933	37442041	205757332	22	111057											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809617	48809617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatctgaacctgtcatTcaagtcactgtggggtcagc	10	10	5	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:48809617T>G	uc010yol.1	+	1	1892	c.1845T>G	c.(1843-1845)ATT>ATG	p.I615M	STON1_uc002rwo.3_Missense_Mutation_p.I615M|STON1_uc010fbm.2_Missense_Mutation_p.I615M|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.I615M|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.I615M	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	615					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACCTGTCATTCAAGTCACTG	0.448													G	48809617	T	G	48809617	3	3	202	1	0	0	0	0	1	0	0	0	15316	1771	62	5	1847	5	STON1-GTF2A1L	2	48809617	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	11367576	48809617	194389756	23	111058											
LHCGR	3973	broad.mit.edu	37	chr2	48925793	48925793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagcacagcagtggctgGggtaagtcaacgtggcctcc	13	10	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:48925793G>A	uc002rwu.3	-	9	897	c.827C>T	c.(826-828)CCC>CTC	p.P276L	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	276	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		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)	GCAGTGGCTGGGGTAAGTCAA	0.418									Familial_Male-Limited_Precocious_Puberty				A	48925793	G	A	48925793	3	1	202	1	0	0	0	0	1	0	0	0	8762	1232	43	4	1284	4	LHCGR	2	48925793	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	116176	48925793	194273580	24	111059											
WDR33	55339	broad.mit.edu	37	chr2	128476972	128476972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccggggggtccttgcatgCcaccctggggtggaggtcct	17	12	0	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:128476972C>T	uc002tpg.1	-	16	2810	c.2627G>A	c.(2626-2628)GGC>GAC	p.G876D		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	876					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTTGCATGCCACCCTGGGG	0.617													T	128476972	C	T	128476972	3	4	202	1	0	0	0	0	1	0	0	0	17284	739	26	2	1411	2	WDR33	2	128476972	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	79551179	128476972	114722401	25	111060											
POTEE	445582	broad.mit.edu	37	chr2	132021412	132021412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttctacaacgagctgcGtgtggctcccgaggagcacc	11	15	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:132021412G>A	uc002tsn.2	+	15	2436	c.2384G>A	c.(2383-2385)CGT>CAT	p.R795H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R395H|POTEE_uc002tsl.2_Missense_Mutation_p.R377H|POTEE_uc010fmy.1_Missense_Mutation_p.R259H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	795	Actin-like.						ATP binding				0						AACGAGCTGCGTGTGGCTCCC	0.577													A	132021412	G	A	132021412	3	1	202	1	0	0	0	0	1	0	0	0	12264	1145	40	1	2442	1	POTEE	2	132021412	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	3544440	132021412	111177961	26	111061											
SCN2A	6326	broad.mit.edu	37	chr2	166179794	166179794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgatgagcacagcacCtttgaggacaatgacagccg	12	10	0	5			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:166179794C>A	uc002udc.2	+	12	2090	c.1800C>A	c.(1798-1800)ACC>ACA	p.T600T	SCN2A_uc002udd.2_Silent_p.T600T|SCN2A_uc002ude.2_Silent_p.T600T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	600					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGCACAGCACCTTTGAGGACA	0.557													A	166179794	C	A	166179794	2	1	202	1	0	0	0	0	0	0	0	1	13916	668	24	5		5	SCN2A	2	166179794	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	34158382	166179794	77019579	27	111062											
XIRP2	129446	broad.mit.edu	37	chr2	168108240	168108240	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catagctcagaagctggcaaAtctggctgtgacttcaagca	10	10	3	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:168108240A>C	uc002udx.2	+	8	10356	c.10338A>C	c.(10336-10338)AAA>AAC	p.K3446N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K3271N|XIRP2_uc010fpq.2_Missense_Mutation_p.K3224N|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3271					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAGCTGGCAAATCTGGCTGTG	0.403													C	168108240	A	C	168108240	3	2	202	1	0	0	0	0	1	0	0	0	17427	98	4	5	10368	5	XIRP2	2	168108240	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	1928446	168108240	75091133	28	111063											
OSBPL6	114880	broad.mit.edu	37	chr2	179247957	179247957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaggaaatggaatacagcGagctcctggacaaggcttcg	14	8	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:179247957G>A	uc002ulx.2	+	17	2206	c.1828G>A	c.(1828-1830)GAG>AAG	p.E610K	OSBPL6_uc002uly.2_Missense_Mutation_p.E635K|OSBPL6_uc010zfe.1_Missense_Mutation_p.E579K|OSBPL6_uc002ulz.2_Missense_Mutation_p.E574K|OSBPL6_uc002uma.2_Missense_Mutation_p.E614K	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	610					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGAATACAGCGAGCTCCTGGA	0.498													A	179247957	G	A	179247957	3	1	202	1	0	0	0	0	1	0	0	0	11281	1059	37	1	2008	1	OSBPL6	2	179247957	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	11139717	179247957	63951416	29	111064											
TTN	7273	broad.mit.edu	37	chr2	179534986	179534986	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcaggaacacgtactTtttcttctaccacaattttc	4	12	4	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:179534986T>G	uc010zfg.1	-	152	31666	c.31442A>C	c.(31441-31443)AAA>ACA	p.K10481T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K7142T|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11408							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACACGTACTTTTTCTTCTAC	0.294													G	179534986	T	G	179534986	3	3	202	1	0	0	0	0	1	0	0	0	16732	1841	64	5	69187	5	TTN	2	179534986	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	287029	179534986	63664387	30	111065											
TTN	7273	broad.mit.edu	37	chr2	179644744	179644744	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgatcttctacataagTtctgaccactacagtatctt	4	12	4	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:179644744T>G	uc010zfg.1	-	22	3936	c.3712A>C	c.(3712-3714)ACT>CCT	p.T1238P	TTN_uc010zfh.1_Missense_Mutation_p.T1192P|TTN_uc010zfi.1_Missense_Mutation_p.T1192P|TTN_uc010zfj.1_Missense_Mutation_p.T1192P|TTN_uc002unb.2_Missense_Mutation_p.T1238P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1238							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACATAAGTTCTGACCACT	0.269													G	179644744	T	G	179644744	3	3	202	1	0	0	0	0	1	0	0	0	16732	1725	60	5	107640	5	TTN	2	179644744	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	109758	179644744	63554629	31	111066											
ACCN4	55515	broad.mit.edu	37	chr2	220379473	220379473	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgagattgtgtgcaaaatCaaatttgctgaggaggatgc	12	5	1	2	rs144007748		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:220379473C>T	uc002vma.2	+	1	422	c.408C>T	c.(406-408)ATC>ATT	p.I136I	ACCN4_uc010fwi.1_Silent_p.I136I|ACCN4_uc010fwj.1_Silent_p.I136I|ACCN4_uc002vly.1_Silent_p.I136I|ACCN4_uc002vlz.2_Silent_p.I136I|ACCN4_uc002vmb.2_5'Flank	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	136	Cytoplasmic (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		TGTGCAAAATCAAATTTGCTG	0.642													T	220379473	C	T	220379473	2	4	202	1	0	0	0	0	0	0	0	1	131	816	29	4		4	ACCN4	2	220379473	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	40734729	220379473	22819900	32	111067											
COL6A3	1293	broad.mit.edu	37	chr2	238274401	238274401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaccttcagggtgtcctcCgtgaggacgtaggggtgctg	16	9	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:238274401C>T	uc002vwl.2	-	12	6063	c.5778G>A	c.(5776-5778)ACG>ACA	p.T1926T	COL6A3_uc002vwo.2_Silent_p.T1720T|COL6A3_uc010znj.1_Silent_p.T1319T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1926	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		GGGTGTCCTCCGTGAGGACGT	0.602													T	238274401	C	T	238274401	2	4	202	1	0	0	0	0	0	0	0	1	3701	639	23	1		1	COL6A3	2	238274401	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	17894928	238274401	4924972	33	111068											
KIF1A	547	broad.mit.edu	37	chr2	241666280	241666280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtcatgtagattttctctCgataaggggtgacccggttc	12	8	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:241666280C>T	uc002vzy.2	-	37	3928	c.3782G>A	c.(3781-3783)CGA>CAA	p.R1261Q	KIF1A_uc010fzk.2_Missense_Mutation_p.R1362Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R1370Q|KIF1A_uc002vzw.2_5'Flank|KIF1A_uc002vzx.2_5'Flank	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1261					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		GATTTTCTCTCGATAAGGGGT	0.517													T	241666280	C	T	241666280	3	4	202	1	0	0	0	0	1	0	0	0	8283	884	31	1	1334	1	KIF1A	2	241666280	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	3391879	241666280	1533093	34	111069											
CAMK1	8536	broad.mit.edu	37	chr3	9804849	9804849	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatgaggtagaggtggccCccactctcatagatgtcatc	11	10	2	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:9804849C>A	uc003bst.2	-	4	442	c.264G>T	c.(262-264)GGG>GGT	p.G88G	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	88	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			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGAGGTGGCCCCCACTCTCAT	0.483													A	9804849	C	A	9804849	2	1	202	1	0	0	0	0	0	0	0	1	2596	610	22	5		5	CAMK1	3	9804849	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08		9804849	188217581	35	111070											
ATG7	10533	broad.mit.edu	37	chr3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcccaaggacattaaGggttattactacaatggtag	10	7	0	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:11340313G>T	uc003bwc.2	+	2	261	c.144G>T	c.(142-144)AAG>AAT	p.K48N	ATG7_uc003bwd.2_Missense_Mutation_p.K48N|ATG7_uc011aum.1_Missense_Mutation_p.K48N	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						AGGACATTAAGGGTTATTACT	0.428													T	11340313	G	T	11340313	3	4	202	1	0	0	0	0	1	0	0	0	1101	991	35	5	146	5	ATG7	3	11340313	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	1535464	11340313	186682117	36	111071											
CAPN7	23473	broad.mit.edu	37	chr3	15292720	15292720	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaaggaccttttttcTtggactttaatagtattatc	6	6	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:15292720T>A	uc003bzn.2	+	21	2665	c.2395T>A	c.(2395-2397)TTG>ATG	p.L799M	uc003bzo.1_5'Flank	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	799	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						ACCTTTTTTCTTGGACTTTAA	0.358													A	15292720	T	A	15292720	3	1	202	1	0	0	0	0	1	0	0	0	2631	1606	56	5	2477	5	CAPN7	3	15292720	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	3952407	15292720	182729710	37	111072											
TRIM71	131405	broad.mit.edu	37	chr3	32932136	32932136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttggctttgttagcagCggggcctttgccccactcac	10	13	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:32932136C>T	uc003cff.2	+	4	1503	c.1440C>T	c.(1438-1440)AGC>AGT	p.S480S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	480	Filamin.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						TTGTTAGCAGCGGGGCCTTTG	0.592													T	32932136	C	T	32932136	2	4	202	1	0	0	0	0	0	0	0	1	16541	767	27	1		1	TRIM71	3	32932136	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	17639416	32932136	165090294	38	111073											
GOLGA4	2803	broad.mit.edu	37	chr3	37366613	37366613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcagaactgaaacaaaAgatcctcctatttgggtgtg	11	7	0	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:37366613A>G	uc003cgv.2	+	14	3540	c.3236A>G	c.(3235-3237)AAG>AGG	p.K1079R	GOLGA4_uc010hgr.1_Missense_Mutation_p.K640R|GOLGA4_uc003cgw.2_Missense_Mutation_p.K1101R|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.K960R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1079	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CTGAAACAAAAGATCCTCCTA	0.358													G	37366613	A	G	37366613	3	3	202	1	0	0	0	0	1	0	0	0	6555	72	3	3	3360	3	GOLGA4	3	37366613	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	4434477	37366613	160655817	39	111074											
XCR1	2829	broad.mit.edu	37	chr3	46063301	46063301	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggaccaggctgttgcccaCtaggctgaggagaaacacca	12	12	0	2	rs150654881		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:46063301C>G	uc003cpe.2	-	3	363	c.139G>C	c.(139-141)GTG>CTG	p.V47L	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.V47L	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	47	Helical; Name=1; (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTGTTGCCCACTAGGCTGAGG	0.557													G	46063301	C	G	46063301	3	3	202	1	0	0	0	0	1	0	0	0	17422	565	20	5	866	5	XCR1	3	46063301	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	8696688	46063301	151959129	40	111075											
ABI3BP	25890	broad.mit.edu	37	chr3	100494156	100494156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcaggggtggtgtagTtattgggcctgatgaaatga	15	5	1	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:100494156T>G	uc003dun.2	-	27	2309	c.2224A>C	c.(2224-2226)ACT>CCT	p.T742P	ABI3BP_uc003duj.2_Missense_Mutation_p.T322P|ABI3BP_uc003duk.2_Missense_Mutation_p.T451P|ABI3BP_uc003dul.2_Missense_Mutation_p.T572P|ABI3BP_uc011bhd.1_Missense_Mutation_p.T696P|ABI3BP_uc003dum.2_Missense_Mutation_p.T153P	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	742	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						GGTGGTGTAGTTATTGGGCCT	0.418													G	100494156	T	G	100494156	3	3	202	1	0	0	0	0	1	0	0	0	91	1725	60	5	1039	5	ABI3BP	3	100494156	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	54430855	100494156	97528274	41	111076											
SENP7	57337	broad.mit.edu	37	chr3	101051685	101051685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccatgttcttactctTttatgtcttctctgtgccat	6	11	4	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:101051685T>G	uc003dut.2	-	18	2613	c.2502A>C	c.(2500-2502)AAA>AAC	p.K834N	SENP7_uc003duu.2_Missense_Mutation_p.K769N|SENP7_uc003duv.2_Missense_Mutation_p.K801N|SENP7_uc003duw.2_Missense_Mutation_p.K768N|SENP7_uc003dux.2_Missense_Mutation_p.K670N|SENP7_uc003dus.2_Missense_Mutation_p.K22N	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	834	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TTCTTACTCTTTTATGTCTTC	0.279													G	101051685	T	G	101051685	3	3	202	1	0	0	0	0	1	0	0	0	14051	1838	64	5	678	5	SENP7	3	101051685	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	557529	101051685	96970745	42	111077			1	50		2	2	12	T		6.076047e-05
SENP7	57337	broad.mit.edu	37	chr3	101051696	101051696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttactcttttatgtcttcTctgtgccattctgagagtat	6	9	5	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:101051696T>C	uc003dut.2	-	18	2602	c.2491A>G	c.(2491-2493)AGA>GGA	p.R831G	SENP7_uc003duu.2_Missense_Mutation_p.R766G|SENP7_uc003duv.2_Missense_Mutation_p.R798G|SENP7_uc003duw.2_Missense_Mutation_p.R765G|SENP7_uc003dux.2_Missense_Mutation_p.R667G|SENP7_uc003dus.2_Missense_Mutation_p.R19G	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	831	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TTATGTCTTCTCTGTGCCATT	0.279													C	101051696	T	C	101051696	3	2	202	1	0	0	0	0	1	0	0	0	14051	1559	54	3	689	3	SENP7	3	101051696	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	11	101051696	96970734	43	111078			1	50		2	2	12	T		6.076047e-05
SENP7	57337	broad.mit.edu	37	chr3	101062680	101062680	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccaagacaacgggtaAgaaagctctaattctccact	7	11	2	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:101062680A>C	uc003dut.2	-	14	2067	c.1956T>G	c.(1954-1956)TCT>TCG	p.S652S	SENP7_uc003duu.2_Silent_p.S587S|SENP7_uc003duv.2_Silent_p.S619S|SENP7_uc003duw.2_Silent_p.S586S|SENP7_uc003dux.2_Silent_p.S488S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	652					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ACAACGGGTAAGAAAGCTCTA	0.343													C	101062680	A	C	101062680	2	2	202	1	0	0	0	0	0	0	0	1	14051	59	3	5		5	SENP7	3	101062680	Silent	SNP	A	TCGA-D7-5579-01A-01D-1600-08	10984	101062680	96959750	44	111079											
EIF4G1	1981	broad.mit.edu	37	chr3	184045790	184045790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgctcagtactaccaagGgtatgaccagcttctctggg	10	11	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:184045790G>A	uc003fnp.2	+	26	4151	c.3953G>A	c.(3952-3954)GGG>GAG	p.G1318E	EIF4G1_uc003fnt.2_Missense_Mutation_p.G1029E|EIF4G1_uc003fnq.2_Missense_Mutation_p.G1231E|EIF4G1_uc003fnr.2_Missense_Mutation_p.G1154E|EIF4G1_uc010hxx.2_Missense_Mutation_p.G1325E|EIF4G1_uc003fns.2_Missense_Mutation_p.G1278E|EIF4G1_uc010hxy.2_Missense_Mutation_p.G1325E|EIF4G1_uc003fnv.3_Missense_Mutation_p.G1319E|EIF4G1_uc003fnu.3_Missense_Mutation_p.G1318E|EIF4G1_uc003fnw.2_Missense_Mutation_p.G1325E|EIF4G1_uc003fnx.2_Missense_Mutation_p.G1123E|EIF4G1_uc003fny.3_Missense_Mutation_p.G1122E|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1318	MI.				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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACTACCAAGGGTATGACCAG	0.527													A	184045790	G	A	184045790	3	1	202	1	0	0	0	0	1	0	0	0	5036	1246	43	4	4047	4	EIF4G1	3	184045790	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	82983110	184045790	13976640	45	111080											
JAKMIP1	152789	broad.mit.edu	37	chr4	6043885	6043885	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcagtcaaatcttttaCcttctccttctccaggtcca	5	15	4	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:6043885C>T	uc010idb.1	-	17	2583	c.2097_splice	c.e17+1	p.K699_splice	JAKMIP1_uc010idc.1_Splice_Site_p.K514_splice|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein						protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AAATCTTTTACCTTCTCCTTC	0.527													T	6043885	C	T	6043885	5	4	202	1	0	0	0	0	0	0	1	0	7940	521	18	4	417	4	JAKMIP1	4	6043885	Splice_Site	SNP	C	TCGA-D7-5579-01A-01D-1600-08		6043885	185110391	46	111081											
PDS5A	23244	broad.mit.edu	37	chr4	39921961	39921961	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagcaatgcatgcctcaataGtctggactgttcttttcaat	7	9	4	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:39921961G>C	uc003guv.3	-	7	1253	c.713C>G	c.(712-714)ACT>AGT	p.T238S	PDS5A_uc010ifo.2_Missense_Mutation_p.T198S|PDS5A_uc003guw.3_Missense_Mutation_p.T238S	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	238					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TGCCTCAATAGTCTGGACTGT	0.264													C	39921961	G	C	39921961	3	2	202	1	0	0	0	0	1	0	0	0	11691	1029	36	5	3441	5	PDS5A	4	39921961	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	33878076	39921961	151232315	47	111082											
GABRA4	2557	broad.mit.edu	37	chr4	46979471	46979471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcataattctaaaaagCttatttggagctgtcatatt	5	6	3	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:46979471C>T	uc003gxg.2	-	4	589	c.450G>A	c.(448-450)AAG>AAA	p.K150K		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	150	Extracellular (Probable).				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			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTAAAAAGCTTATTTGGAG	0.254													T	46979471	C	T	46979471	2	4	202	1	0	0	0	0	0	0	0	1	6163	796	28	2		2	GABRA4	4	46979471	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	7057510	46979471	144174805	48	111083											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68919748	68919748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctacaatgtaccagatgTcatgattatcataaaccaga	5	9	2	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:68919748T>G	uc003hdt.1	-	10	1245	c.1196A>C	c.(1195-1197)GAC>GCC	p.D399A	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	399	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						GTACCAGATGTCATGATTATC	0.358													G	68919748	T	G	68919748	3	3	202	1	0	0	0	0	1	0	0	0	16240	1667	58	5	124	5	TMPRSS11F	4	68919748	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	21940277	68919748	122234528	49	111084											
LEF1	51176	broad.mit.edu	37	chr4	109088797	109088797	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcgccttcctcttcgggatGactgatctcggcgaagatct	10	12	3	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:109088797G>A	uc003hyt.1	-	1	782	c.127C>T	c.(127-129)CAT>TAT	p.H43Y	LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.H43Y|LEF1_uc003hyv.1_Missense_Mutation_p.H43Y|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	43	CTNNB1-binding (By similarity).|Asp/Glu-rich (acidic).				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 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			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCTTCGGGATGACTGATCTCG	0.597													A	109088797	G	A	109088797	3	1	202	1	0	0	0	0	1	0	0	0	8714	1290	45	4	1213	4	LEF1	4	109088797	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	40169049	109088797	82065479	50	111085											
DCHS2	54798	broad.mit.edu	37	chr4	155156977	155156977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgagttgactttttattaGgggaagggctctaatcaaat	11	4	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:155156977G>T	uc003inw.2	-	25	7462	c.7462C>A	c.(7462-7464)CTA>ATA	p.L2488I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2488	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTTTTATTAGGGGAAGGGCT	0.353													T	155156977	G	T	155156977	3	4	202	1	0	0	0	0	1	0	0	0	4288	991	35	5	1292	5	DCHS2	4	155156977	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	46068180	155156977	35997299	51	111086											
ANXA10	11199	broad.mit.edu	37	chr4	169108527	169108527	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttttcagaattttgcttCagggcattataagaaagcac	7	7	3	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:169108527C>A	uc003irm.2	+	12	1062	c.917C>A	c.(916-918)TCA>TAA	p.S306*	ANXA10_uc003irn.2_Nonsense_Mutation_p.S178*	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	306	Annexin 4.						calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AATTTTGCTTCAGGGCATTAT	0.353													A	169108527	C	A	169108527	4	1	202	1	0	0	0	0	0	1	0	0	715	838	29	5	963	5	ANXA10	4	169108527	Nonsense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	13951550	169108527	22045749	52	111087											
PRDM9	56979	broad.mit.edu	37	chr5	23509147	23509147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagtcccagcaccatgaGccctgaaaagtcccaagagg	10	13	0	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:23509147G>A	uc003jgo.2	+	2	187	c.5G>A	c.(4-6)AGC>AAC	p.S2N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	2					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGCACCATGAGCCCTGAAAAG	0.567										HNSCC(3;0.000094)			A	23509147	G	A	23509147	3	1	202	1	0	0	0	0	1	0	0	0	12463	971	34	2	7	2	PRDM9	5	23509147	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08		23509147	157406113	53	111088											
ADAMTS12	81792	broad.mit.edu	37	chr5	33637846	33637846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatatttccctccaaacTttggcctgcaaatgaaacag	6	11	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:33637846T>C	uc003jia.1	-	12	1887	c.1724A>G	c.(1723-1725)AAG>AGG	p.K575R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.K575R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CCCTCCAAACTTTGGCCTGCA	0.463										HNSCC(64;0.19)			C	33637846	T	C	33637846	3	2	202	1	0	0	0	0	1	0	0	0	257	1609	56	3	3112	3	ADAMTS12	5	33637846	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	10128699	33637846	147277414	54	111089											
CAPSL	133690	broad.mit.edu	37	chr5	35921154	35921154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagtctttcaatggggtcGgtggccgtggtgagcttttt	16	7	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:35921154G>A	uc003jjt.1	-	2	164	c.69C>T	c.(67-69)ACC>ACT	p.T23T	CAPSL_uc003jju.1_Silent_p.T23T	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	23						cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CAATGGGGTCGGTGGCCGTGG	0.587													A	35921154	G	A	35921154	2	1	202	1	0	0	0	0	0	0	0	1	2639	1103	39	1		1	CAPSL	5	35921154	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	2283308	35921154	144994106	55	111090											
MSH3	4437	broad.mit.edu	37	chr5	80083395	80083395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtaggaaattcagtgAacattatcactccttgtgta	7	9	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:80083395A>G	uc003kgz.2	+	18	2700	c.2447A>G	c.(2446-2448)GAA>GGA	p.E816G		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	816					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			lung(2)|ovary(1)|breast(1)	4		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)		AAATTCAGTGAACATTATCAC	0.418								MMR					G	80083395	A	G	80083395	3	3	202	1	0	0	0	0	1	0	0	0	9871	246	9	3	2517	3	MSH3	5	80083395	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	44162241	80083395	100831865	56	111091											
RASGRF2	5924	broad.mit.edu	37	chr5	80409671	80409671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagcaaagcccgggaaCggtagaagagaatgtcgata	13	8	0	3	rs111424797	byFrequency	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:80409671C>T	uc003kha.1	+	15	2402	c.2402C>T	c.(2401-2403)ACG>ATG	p.T801M	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	801					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			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		AGCCCGGGAACGGTAGAAGAG	0.498													T	80409671	C	T	80409671	3	4	202	1	0	0	0	0	1	0	0	0	13073	536	19	1	2460	1	RASGRF2	5	80409671	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	326276	80409671	100505589	57	111092											
MCTP1	79772	broad.mit.edu	37	chr5	94353092	94353092	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgatctcgagcagctaAactttgaccccttcttaatg	6	13	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:94353092A>G	uc003kkx.2	-	2	817	c.817T>C	c.(817-819)TTA>CTA	p.L273L	MCTP1_uc003kkv.2_Silent_p.L52L|MCTP1_uc003kkw.2_Silent_p.L52L|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	273	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		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)		CGAGCAGCTAAACTTTGACCC	0.423													G	94353092	A	G	94353092	2	3	202	1	0	0	0	0	0	0	0	1	9400	11	1	3		3	MCTP1	5	94353092	Silent	SNP	A	TCGA-D7-5579-01A-01D-1600-08	13943421	94353092	86562168	58	111093											
LNPEP	4012	broad.mit.edu	37	chr5	96332176	96332176	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactttcatggagtatttctCtttggaaaaaatattcaaag	6	6	3	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:96332176C>G	uc003kmv.1	+	7	2004	c.1490C>G	c.(1489-1491)TCT>TGT	p.S497C	LNPEP_uc003kmw.1_Missense_Mutation_p.S483C	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	497	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		GAGTATTTCTCTTTGGAAAAA	0.383													G	96332176	C	G	96332176	3	3	202	1	0	0	0	0	1	0	0	0	8864	913	32	5	1516	5	LNPEP	5	96332176	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	1979084	96332176	84583084	59	111094											
CHD1	1105	broad.mit.edu	37	chr5	98236677	98236677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaacagttgcttggcgacGagaacttcttttatcattat	7	7	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:98236677G>A	uc003knf.2	-	6	845	c.697C>T	c.(697-699)CGT>TGT	p.R233C		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	233					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			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		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)	GCTTGGCGACGAGAACTTCTT	0.368													A	98236677	G	A	98236677	3	1	202	1	0	0	0	0	1	0	0	0	3323	1058	37	1	4555	1	CHD1	5	98236677	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	1904501	98236677	82678583	60	111095											
ATP10B	23120	broad.mit.edu	37	chr5	160033905	160033905	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttcttctctagcttTccctggaagatggcattcaa	7	10	3	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:160033905T>C	uc003lym.1	-	19	3874	c.3027A>G	c.(3025-3027)GGA>GGG	p.G1009G	ATP10B_uc010jit.1_Silent_p.G326G	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1009	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			TCTCTAGCTTTCCCTGGAAGA	0.512													C	160033905	T	C	160033905	2	2	202	1	0	0	0	0	0	0	0	1	1117	1770	62	3		3	ATP10B	5	160033905	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	61797228	160033905	20881355	61	111096											
DDX41	51428	broad.mit.edu	37	chr5	176941765	176941765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagggcgcagcgcaggAgtggtgagctgtcctcctgc	17	11	0	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:176941765A>G	uc003mho.2	-	9	893	c.872T>C	c.(871-873)CTC>CCC	p.L291P	DDX41_uc003mhm.2_Missense_Mutation_p.L71P|DDX41_uc003mhn.2_Missense_Mutation_p.L160P|DDX41_uc003mhp.2_Missense_Mutation_p.L160P|DDX41_uc003mhq.1_Missense_Mutation_p.L71P	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	291	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			GCAGCGCAGGAGTGGTGAGCT	0.657													G	176941765	A	G	176941765	3	3	202	1	0	0	0	0	1	0	0	0	4361	304	11	3	1032	3	DDX41	5	176941765	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	16907860	176941765	3973495	62	111097											
ZNF187	7741	broad.mit.edu	37	chr6	28244679	28244699	+	In_Frame_Del	DEL	ATTCATACTGGAGAAAAACCT	ATTCATACTGGAGAAAAACCT	-													accttattcgacaccacagaAttcatactggagaaaaacct							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:28244678_28244698AATTCATACTGGAGAAAAACCT>A	uc011dlc.2	+	4	1512_1532	c.1242_1262AATTCATACTGGAGAAAAACCT>A	c.(1240-1263)agaattcatactggagaaaaacct>agAt	p.IHTGEKP415del	ZNF187_uc003nku.4_In_Frame_Del_p.IHTGEKP281del|ZNF187_uc003nkw.4_In_Frame_Del_p.IHTGEKP262del|ZNF187_uc011dle.2_In_Frame_Del_p.IHTGEKP262del|ZNF187_uc011dlf.2_In_Frame_Del_p.IHTGEKP207del|ZNF187_uc011dld.2_In_Frame_Del_p.IHTGEKP414del|ZNF187_uc011dlg.2_In_Frame_Del_p.IHTGEKP262del	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	415					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GACACCACAGAATTCATACTGGAGAAAAACCTTTCAAGTGT	0.416													-	28244699	ATTCATACTGGAGAAAAACCT	-	28244679	7	5	202	1	0	1	0	1	0	0	0	0	17750	101	4	0	1255	0	ZNF187	6	28244679	In_Frame_Del	DEL	ATTCATACTGGAGAAAAACCT	TCGA-D7-5579-01A-01D-1600-08		28244679	142870388	63	111098											
TNXB	7148	broad.mit.edu	37	chr6	32026099	32026099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccccaggagaggctcctCggggggccctggggcctctg	16	16	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:32026099C>T	uc003nzl.2	-	22	7763	c.7561G>A	c.(7561-7563)GAG>AAG	p.E2521K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2581					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AGAGGCTCCTCGGGGGGCCCT	0.617													T	32026099	C	T	32026099	3	4	202	1	0	0	0	0	1	0	0	0	16343	893	31	1	7244	1	TNXB	6	32026099	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	3781420	32026099	139088968	64	111099											
TMEM63B	55362	broad.mit.edu	37	chr6	44116537	44116537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgccagggagcaccTctccatccgaggcttcatct	8	17	3	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:44116537T>G	uc003owr.2	+	15	1332	c.1268T>G	c.(1267-1269)CTC>CGC	p.L423R	TMEM63B_uc003owq.1_Missense_Mutation_p.L423R|TMEM63B_uc003ows.2_Missense_Mutation_p.L326R|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	423						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	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)			AGGGAGCACCTCTCCATCCGA	0.592													G	44116537	T	G	44116537	3	3	202	1	0	0	0	0	1	0	0	0	16188	1551	54	5	1322	5	TMEM63B	6	44116537	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	12090438	44116537	126998530	65	111100											
BEND3	57673	broad.mit.edu	37	chr6	107391848	107391848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttgtcagtgcctgcccCggtgctgccacagtcccgct	12	16	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:107391848C>T	uc003prs.2	-	5	1197	c.547G>A	c.(547-549)GGG>AGG	p.G183R		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	183										ovary(3)	3						GTGCCTGCCCCGGTGCTGCCA	0.562													T	107391848	C	T	107391848	3	4	202	1	0	0	0	0	1	0	0	0	1399	652	23	1	1943	1	BEND3	6	107391848	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	63275311	107391848	63723219	66	111101											
IL22RA2	116379	broad.mit.edu	37	chr6	137476153	137476153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccgccctcaccctccCgtaataaggttcctgtatgt	9	15	1	0	rs150492179		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:137476153C>T	uc003qhl.2	-	5	698	c.397G>A	c.(397-399)GGG>AGG	p.G133R	IL22RA2_uc003qhm.2_Missense_Mutation_p.G101R|IL22RA2_uc003qhn.2_Missense_Mutation_p.G101R	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	interleukin 22-binding protein isoform 1	133	Fibronectin type-III 2.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CTCACCCTCCCGTAATAAGGT	0.512													T	137476153	C	T	137476153	3	4	202	1	0	0	0	0	1	0	0	0	7674	652	23	1	406	1	IL22RA2	6	137476153	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	30084305	137476153	33638914	67	111102											
SYNE1	23345	broad.mit.edu	37	chr6	152777106	152777106	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctcaaggtcacaaacTtttgaacactttgactgcct	7	11	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:152777106T>A	uc010kiw.2	-	23	3244	c.2642A>T	c.(2641-2643)AAG>ATG	p.K881M	SYNE1_uc003qot.3_Missense_Mutation_p.K888M|SYNE1_uc003qou.3_Missense_Mutation_p.K881M|SYNE1_uc010kjb.1_Missense_Mutation_p.K864M|SYNE1_uc003qow.2_Missense_Mutation_p.K176M|SYNE1_uc003qox.1_Missense_Mutation_p.K397M|SYNE1_uc003qoz.2_Missense_Mutation_p.K313M|SYNE1_uc003qoy.2_Missense_Mutation_p.K448M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	881	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCACAAACTTTTGAACACT	0.383										HNSCC(10;0.0054)			A	152777106	T	A	152777106	3	1	202	1	0	0	0	0	1	0	0	0	15442	1609	56	5	24320	5	SYNE1	6	152777106	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	15300953	152777106	18337961	68	111103											
FERD3L	222894	broad.mit.edu	37	chr7	19184940	19184940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggacaggtctgcgacgaAgtccagcaccgtagtgtcca	13	12	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:19184940A>G	uc003suo.1	-	1	105	c.46T>C	c.(46-48)TTC>CTC	p.F16L	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCTGCGACGAAGTCCAGCACC	0.682													G	19184940	A	G	19184940	3	3	202	1	0	0	0	0	1	0	0	0	5816	72	3	3	458	3	FERD3L	7	19184940	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08		19184940	139953723	69	111104											
C7orf25	79020	broad.mit.edu	37	chr7	42949301	42949301	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctttactctcagtaAgtgctctgggctgatggata	11	9	3	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:42949301A>T	uc003thw.2	-	2	1663	c.1199T>A	c.(1198-1200)CTT>CAT	p.L400H	C7orf25_uc010kxq.2_Missense_Mutation_p.L400H|C7orf25_uc003thx.3_Missense_Mutation_p.L458H|C7orf25_uc010kxr.2_Missense_Mutation_p.L458H	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	400										skin(1)	1						ACTCTCAGTAAGTGCTCTGGG	0.408													T	42949301	A	T	42949301	3	4	202	1	0	0	0	0	1	0	0	0	2380	72	3	5	70	5	C7orf25	7	42949301	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	23764361	42949301	116189362	70	111105											
ADCY1	107	broad.mit.edu	37	chr7	45632384	45632384	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaatgccttgctcttcgtCggtgtgaacatgtatggggt	13	9	1	1	rs149960050	byFrequency	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:45632384C>T	uc003tne.3	+	2	684	c.666C>T	c.(664-666)GTC>GTT	p.V222V	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	222	Helical; (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTCTTCGTCGGTGTGAACA	0.597													T	45632384	C	T	45632384	2	4	202	1	0	0	0	0	0	0	0	1	292	871	31	1		1	ADCY1	7	45632384	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	2683083	45632384	113506279	71	111106											
GIGYF1	64599	broad.mit.edu	37	chr7	100285026	100285026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgtcaccacggccgCggcctagagaagaggccaga	14	13	1	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:100285026C>T	uc003uwg.1	-	5	1386	c.377G>A	c.(376-378)CGC>CAC	p.R126H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	126										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACCACGGCCGCGGCCTAGAGA	0.607													T	100285026	C	T	100285026	3	4	202	1	0	0	0	0	1	0	0	0	6377	768	27	1	2810	1	GIGYF1	7	100285026	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	54652642	100285026	58853637	72	111107											
MUC17	140453	broad.mit.edu	37	chr7	100684635	100684635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaccagcacacctgtgaCcacttattctcaagccagtt	6	14	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:100684635C>A	uc003uxp.1	+	3	9991	c.9938C>A	c.(9937-9939)ACC>AAC	p.T3313N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3313	Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACCTGTGACCACTTATTCT	0.478													A	100684635	C	A	100684635	3	1	202	1	0	0	0	0	1	0	0	0	9974	507	18	5	9948	5	MUC17	7	100684635	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	399609	100684635	58454028	73	111108											
CSMD1	64478	broad.mit.edu	37	chr8	3256965	3256965	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgcttcaattatccattCacaatgtaaagaatccttat	3	8	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:3256965C>T	uc011kwk.1	-	16	2746	c.2356G>A	c.(2356-2358)GAA>AAA	p.E786K	CSMD1_uc011kwj.1_Missense_Mutation_p.E178K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	786	Extracellular (Potential).|CUB 5.					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)		ATTATCCATTCACAATGTAAA	0.408													T	3256965	C	T	3256965	3	4	202	1	0	0	0	0	1	0	0	0	3944	835	29	4	8561	4	CSMD1	8	3256965	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08		3256965	143107057	74	111109											
SH2D4A	63898	broad.mit.edu	37	chr8	19192368	19192368	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagaagagaaaatccgAgtgagtccttactgtctgta	11	7	1	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:19192368A>C	uc003wzb.2	+	4	849	c.513A>C	c.(511-513)CGA>CGC	p.R171R	SH2D4A_uc011kym.1_Silent_p.R126R|SH2D4A_uc003wzc.2_Silent_p.R171R	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	171						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		AGAAAATCCGAGTGAGTCCTT	0.493													C	19192368	A	C	19192368	2	2	202	1	0	0	0	0	0	0	0	1	14235	318	11	5		5	SH2D4A	8	19192368	Silent	SNP	A	TCGA-D7-5579-01A-01D-1600-08	15935403	19192368	127171654	75	111110											
INTS10	55174	broad.mit.edu	37	chr8	19700363	19700363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacttctgttaggttcGgatctgaagctcctgccttg	12	9	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:19700363G>A	uc003wzj.2	+	14	1775	c.1644G>A	c.(1642-1644)TCG>TCA	p.S548S		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	548					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGTTAGGTTCGGATCTGAAGC	0.373													A	19700363	G	A	19700363	2	1	202	1	0	0	0	0	0	0	0	1	7776	1103	39	1		1	INTS10	8	19700363	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	507995	19700363	126663659	76	111111											
CYP7A1	1581	broad.mit.edu	37	chr8	59407090	59407090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggcaggtcattcagttcTgcttgactcaaacaaatagg	9	9	4	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:59407090T>C	uc003xtm.3	-	4	1077	c.1014A>G	c.(1012-1014)GCA>GCG	p.A338A		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	338					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			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CATTCAGTTCTGCTTGACTCA	0.338									Neonatal_Giant_Cell_Hepatitis				C	59407090	T	C	59407090	2	2	202	1	0	0	0	0	0	0	0	1	4196	1567	55	3		3	CYP7A1	8	59407090	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	39706727	59407090	86956932	77	111112											
CYP7B1	9420	broad.mit.edu	37	chr8	65509449	65509449	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaaaggtggttttcTtcttaccatcttctataaaa	5	6	4	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:65509449T>G	uc003xvj.2	-	6	1475	c.1271A>C	c.(1270-1272)AAG>ACG	p.K424T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	424					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			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTGGTTTTCTTCTTACCATC	0.348													G	65509449	T	G	65509449	3	3	202	1	0	0	0	0	1	0	0	0	4197	1609	56	5	253	5	CYP7B1	8	65509449	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	6102359	65509449	80854573	78	111113											
ANGPT1	284	broad.mit.edu	37	chr8	108334272	108334272	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacgagtaaccaagccTtgaaggttctctttctcttc	8	10	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:108334272T>C	uc003ymn.2	-	4	1128	c.660A>G	c.(658-660)CAA>CAG	p.Q220Q	ANGPT1_uc011lhv.1_Silent_p.Q20Q|ANGPT1_uc003ymo.2_Silent_p.Q220Q|ANGPT1_uc003ymp.3_Silent_p.Q20Q	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	220	Potential.				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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TAACCAAGCCTTGAAGGTTCT	0.393													C	108334272	T	C	108334272	2	2	202	1	0	0	0	0	0	0	0	1	610	1606	56	3		3	ANGPT1	8	108334272	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	42824823	108334272	38029750	79	111114											
PLEC	5339	broad.mit.edu	37	chr8	144995359	144995359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagaaggcacaggcccGtctcggggtcctccacgcag	15	14	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:144995359G>A	uc003zaf.1	-	32	9211	c.9041C>T	c.(9040-9042)ACG>ATG	p.T3014M	PLEC_uc003zab.1_Missense_Mutation_p.T2877M|PLEC_uc003zac.1_Missense_Mutation_p.T2881M|PLEC_uc003zad.2_Missense_Mutation_p.T2877M|PLEC_uc003zae.1_Missense_Mutation_p.T2845M|PLEC_uc003zag.1_Missense_Mutation_p.T2855M|PLEC_uc003zah.2_Missense_Mutation_p.T2863M|PLEC_uc003zaj.2_Missense_Mutation_p.T2904M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3014	Globular 2.|Plectin 5.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCACAGGCCCGTCTCGGGGTC	0.647													A	144995359	G	A	144995359	3	1	202	1	0	0	0	0	1	0	0	0	12052	1145	40	1	5017	1	PLEC	8	144995359	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	36661087	144995359	1368663	80	111115											
MPDZ	8777	broad.mit.edu	37	chr9	13188944	13188944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcagcaatgccgccagGcaccaaagaacgaattataa	7	11	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:13188944G>A	uc010mia.1	-	16	2260	c.2203C>T	c.(2203-2205)CCT>TCT	p.P735S	MPDZ_uc010mhy.2_Missense_Mutation_p.P735S|MPDZ_uc010mhz.2_Missense_Mutation_p.P735S|MPDZ_uc011lmn.1_Missense_Mutation_p.P735S|MPDZ_uc003zlb.3_Missense_Mutation_p.P735S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	735	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGCCGCCAGGCACCAAAGAA	0.428													A	13188944	G	A	13188944	3	1	202	1	0	0	0	0	1	0	0	0	9722	1203	42	2	4042	2	MPDZ	9	13188944	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08		13188944	128024487	81	111116											
RUSC2	9853	broad.mit.edu	37	chr9	35546783	35546783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagcaccaagagtaggagtCgggatggaagaggccctgga	16	8	0	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:35546783C>T	uc003zww.2	+	2	520	c.265C>T	c.(265-267)CGG>TGG	p.R89W	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R89W	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	89						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTAGGAGTCGGGATGGAAG	0.562													T	35546783	C	T	35546783	3	4	202	1	0	0	0	0	1	0	0	0	13751	875	31	1	267	1	RUSC2	9	35546783	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	22357839	35546783	105666648	82	111117											
VPS13A	23230	broad.mit.edu	37	chr9	79952416	79952416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggccacctatcctgctccGaaatcttcttccttacaaaa	5	14	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:79952416G>A	uc004akr.2	+	47	6601	c.6341G>A	c.(6340-6342)CGA>CAA	p.R2114Q	VPS13A_uc004akp.3_Missense_Mutation_p.R2114Q|VPS13A_uc004akq.3_Missense_Mutation_p.R2114Q|VPS13A_uc004aks.2_Missense_Mutation_p.R2075Q|VPS13A_uc004akt.2_Missense_Mutation_p.R454Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2114					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATCCTGCTCCGAAATCTTCTT	0.333													A	79952416	G	A	79952416	3	1	202	1	0	0	0	0	1	0	0	0	17186	1058	37	1	6527	1	VPS13A	9	79952416	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	44405633	79952416	61261015	83	111118											
NTRK2	4915	broad.mit.edu	37	chr9	87482253	87482253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcttcggaaggtggcCcagatgctgtcattattgga	11	9	3	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:87482253C>T	uc004aoa.1	+	15	2430	c.1492C>T	c.(1492-1494)CCA>TCA	p.P498S	NTRK2_uc004any.1_Missense_Mutation_p.P498S|NTRK2_uc004anz.1_Missense_Mutation_p.P514S|NTRK2_uc011lsz.1_Missense_Mutation_p.P514S|NTRK2_uc011lta.1_Missense_Mutation_p.P498S|NTRK2_uc004aoc.2_Missense_Mutation_p.P49S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	498	Cytoplasmic (Potential).				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			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GGAAGGTGGCCCAGATGCTGT	0.493										TSP Lung(25;0.17)			T	87482253	C	T	87482253	3	4	202	1	0	0	0	0	1	0	0	0	10707	623	22	4	1632	4	NTRK2	9	87482253	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	7529837	87482253	53731178	84	111119											
ABCA1	19	broad.mit.edu	37	chr9	107568522	107568522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccctgaaagtgactcacTtgtggaggaggcagcccccc	11	15	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:107568522T>C	uc004bcl.2	-	31	4777	c.4464A>G	c.(4462-4464)CAA>CAG	p.Q1488Q		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1488	Extracellular.				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			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTGACTCACTTGTGGAGGAG	0.567													C	107568522	T	C	107568522	2	2	202	1	0	0	0	0	0	0	0	1	28	1623	56	3		3	ABCA1	9	107568522	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	20086269	107568522	33644909	85	111120											
ASTN2	23245	broad.mit.edu	37	chr9	119488112	119488112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagtggatgatgcagGtgagctctgagccatagagg	17	5	1	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:119488112G>T	uc004bjs.1	-	16	2845	c.2744C>A	c.(2743-2745)ACC>AAC	p.T915N	ASTN2_uc004bjr.1_Missense_Mutation_p.T911N|ASTN2_uc004bjt.1_Missense_Mutation_p.T864N	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	915	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GATGATGCAGGTGAGCTCTGA	0.572													T	119488112	G	T	119488112	3	4	202	1	0	0	0	0	1	0	0	0	1065	1261	44	5	1539	5	ASTN2	9	119488112	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	11919590	119488112	21725319	86	111121											
WDR38	401551	broad.mit.edu	37	chr9	127619662	127619662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaagtctgggactgcaAcacaggaaagtgccttgaga	13	8	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:127619662A>G	uc004box.2	+	8	844	c.788A>G	c.(787-789)AAC>AGC	p.N263S	WDR38_uc011lzn.1_Missense_Mutation_p.N252S|WDR38_uc011lzo.1_Missense_Mutation_p.N263S|WDR38_uc011lzp.1_Missense_Mutation_p.N214S	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	263	WD 6.										0						TGGGACTGCAACACAGGAAAG	0.592													G	127619662	A	G	127619662	3	3	202	1	0	0	0	0	1	0	0	0	17289	43	2	3	818	3	WDR38	9	127619662	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	8131550	127619662	13593769	87	111122											
SCAI	286205	broad.mit.edu	37	chr9	127765441	127765441	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctggctgaaggttggtttGtagagcagatacttgtgggg	17	4	0	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:127765441G>C	uc004bpe.2	-	11	1098	c.1017C>G	c.(1015-1017)TAC>TAG	p.Y339*	SCAI_uc004bpd.2_Nonsense_Mutation_p.Y362*|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	339					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			ovary(2)|breast(2)|central_nervous_system(1)	5						AGGTTGGTTTGTAGAGCAGAT	0.393													C	127765441	G	C	127765441	4	2	202	1	0	0	0	0	0	1	0	0	13869	1372	48	5	835	5	SCAI	9	127765441	Nonsense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	145779	127765441	13447990	88	111123											
CACNB2	783	broad.mit.edu	37	chr10	18789832	18789833	+	Missense_Mutation	DNP	GG	GG	TT													agtcaaactagaaaacatgaGgctgcagcatgaacagagag							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:18789832_18789833GG>TT	uc001ipr.2	+	5	608_609	c.548_549GG>TT	c.(547-549)AGG>ATT	p.R183I	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.R183I|CACNB2_uc001ipt.2_Missense_Mutation_p.R183I|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.R155I|CACNB2_uc001ipv.2_Missense_Mutation_p.R155I|CACNB2_uc009xka.1_Missense_Mutation_p.R155I|CACNB2_uc001ipw.2_Missense_Mutation_p.R128I|CACNB2_uc001ipx.2_Missense_Mutation_p.R128I|CACNB2_uc009xkb.1_Missense_Mutation_p.R129I|CACNB2_uc010qcm.1_Missense_Mutation_p.R129I|CACNB2_uc001ipz.2_Missense_Mutation_p.R129I|CACNB2_uc001ipy.2_Missense_Mutation_p.R129I|CACNB2_uc010qcn.1_Missense_Mutation_p.R135I|CACNB2_uc010qco.1_Missense_Mutation_p.R135I|CACNB2_uc001iqa.2_Missense_Mutation_p.R135I	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	183	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAAACATGAGGCTGCAGCATG	0.406													TT	18789833	GG	TT	18789832	3	4	202	1	0	0	0	0	1	0	0	0	2553	1000	35	5	786	5	CACNB2	10	18789832	Missense_Mutation	DNP	GG	TCGA-D7-5579-01A-01D-1600-08		18789832	116744915	89	111124											
CACNB2	783	broad.mit.edu	37	chr10	18795432	18795432	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattcatcatccagtttggGtgacatagtacctagttcca	7	9	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:18795432G>T	uc001ipr.2	+	6	686	c.626G>T	c.(625-627)GGT>GTT	p.G209V	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.G209V|CACNB2_uc001ipt.2_Missense_Mutation_p.G209V|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.G181V|CACNB2_uc001ipv.2_Missense_Mutation_p.G181V|CACNB2_uc009xka.1_Missense_Mutation_p.G181V|CACNB2_uc001ipw.2_Missense_Mutation_p.G154V|CACNB2_uc001ipx.2_Missense_Mutation_p.G154V|CACNB2_uc009xkb.1_Missense_Mutation_p.G155V|CACNB2_uc010qcm.1_Missense_Mutation_p.G155V|CACNB2_uc001ipz.2_Missense_Mutation_p.G155V|CACNB2_uc001ipy.2_Missense_Mutation_p.G155V|CACNB2_uc010qcn.1_Missense_Mutation_p.G161V|CACNB2_uc010qco.1_Missense_Mutation_p.G161V|CACNB2_uc001iqa.2_Missense_Mutation_p.G161V	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	209					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCAGTTTGGGTGACATAGTA	0.353													T	18795432	G	T	18795432	3	4	202	1	0	0	0	0	1	0	0	0	2553	1261	44	5	868	5	CACNB2	10	18795432	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	5600	18795432	116739315	90	111125											
NEBL	10529	broad.mit.edu	37	chr10	21097588	21097588	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctatagtgactcgcctttTctatattggagggaaaatat	9	7	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:21097588T>A	uc001iqi.2	-	26	3009	c.2612A>T	c.(2611-2613)GAA>GTA	p.E871V	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	871	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						ACTCGCCTTTTCTATATTGGA	0.398													A	21097588	T	A	21097588	3	1	202	1	0	0	0	0	1	0	0	0	10303	1797	62	5	444	5	NEBL	10	21097588	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	2302156	21097588	114437159	91	111126											
RUFY2	55680	broad.mit.edu	37	chr10	70105583	70105583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacaggaatcacaaaccCgtactggttttggtgaagaa	10	8	1	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:70105583C>T	uc001job.2	-	18	2195	c.1868G>A	c.(1867-1869)CGG>CAG	p.R623Q	RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Missense_Mutation_p.R178Q	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	637	FYVE-type.					nucleus	metal ion binding			ovary(1)	1						ATCACAAACCCGTACTGGTTT	0.408													T	70105583	C	T	70105583	3	4	202	1	0	0	0	0	1	0	0	0	13739	652	23	1	61	1	RUFY2	10	70105583	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	49007995	70105583	65429164	92	111127											
KIAA1274	27143	broad.mit.edu	37	chr10	72291092	72291092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgtgcttttcctgcGtgcagatgaggactttgtgt	13	8	0	2	rs140490112		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:72291092G>A	uc001jrd.3	+	5	796	c.515G>A	c.(514-516)CGT>CAT	p.R172H		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	172										ovary(2)|central_nervous_system(1)	3						CTTTTCCTGCGTGCAGATGAG	0.592													A	72291092	G	A	72291092	3	1	202	1	0	0	0	0	1	0	0	0	8220	1145	40	1	529	1	KIAA1274	10	72291092	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	2185509	72291092	63243655	93	111128											
LIPF	8513	broad.mit.edu	37	chr10	90427330	90427331	+	Frame_Shift_Ins	INS	-	-	A													ggtttgcttcctcagagtcaINSgatgattacttattggggat							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:90427329_90427330C>CA	uc001kfg.2	+	2	223_224	c.109_110C>CA	c.(109-111)cagfs	p.Q37fs	LIPF_uc009xtk.3_Frame_Shift_Ins_p.Q37fs|LIPF_uc001kfh.2_Frame_Shift_Ins_p.Q47fs|LIPF_uc010qmt.2_Frame_Shift_Ins_p.Q47fs|LIPF_uc010qmu.2_Frame_Shift_Ins_p.Q37fs	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	37					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	p.Q37*(2)|p.Q47*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TCCTCAGAGTCAGATGATTACT	0.272													A	90427331	-	A	90427330	7	5	202	1	0	1	1	0	0	0	0	0	8822	188	7	0	116	0	LIPF	10	90427330	Frame_Shift_Ins	INS	-	TCGA-D7-5579-01A-01D-1600-08	18136238	90427330	45107417	94	111129											
C10orf2	56652	broad.mit.edu	37	chr10	102748498	102748498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggttcagctggctgaTacaatgtttggccttaccaa	12	8	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:102748498T>C	uc001ksf.2	+	1	1206	c.531T>C	c.(529-531)GAT>GAC	p.D177D	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.D177D|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	177					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			ovary(1)	1		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)		AGCTGGCTGATACAATGTTTG	0.537													C	102748498	T	C	102748498	2	2	202	1	0	0	0	0	0	0	0	1	1597	1403	49	3		3	C10orf2	10	102748498	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	12321168	102748498	32786249	95	111130											
HABP2	3026	broad.mit.edu	37	chr10	115341635	115341635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctttcttgtgtcccacagAcgttgcctacccagaggaaa	8	12	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:115341635A>T	uc001lai.3	+	9	942	c.839A>T	c.(838-840)GAC>GTC	p.D280V	HABP2_uc010qrz.1_Intron	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	280					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGTCCCACAGACGTTGCCTAC	0.527													T	115341635	A	T	115341635	3	4	202	1	0	0	0	0	1	0	0	0	6938	289	10	5	873	5	HABP2	10	115341635	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	12593137	115341635	20193112	96	111131											
HABP2	3026	broad.mit.edu	37	chr10	115341702	115341702	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtttgactcctgtggAaagactgagatagcagagag	15	7	0	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:115341702A>T	uc001lai.3	+	9	1009	c.906A>T	c.(904-906)GGA>GGT	p.G302G	HABP2_uc010qrz.1_Intron	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	302					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ACTCCTGTGGAAAGACTGAGA	0.532													T	115341702	A	T	115341702	2	4	202	1	0	0	0	0	0	0	0	1	6938	233	9	5		5	HABP2	10	115341702	Silent	SNP	A	TCGA-D7-5579-01A-01D-1600-08	67	115341702	20193045	97	111132											
PKP3	11187	broad.mit.edu	37	chr11	404061	404061	+	Frame_Shift_Del	DEL	C	C	-													aacaacctggtggtggccagCcccatcgctgcccgagacct							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:404060_404060GC>G	uc021qbk.1	+	11	2269	c.2240_2240GC>G	c.(2239-2241)agcfs	p.S747fs	PKP3_uc001lpc.3_Frame_Shift_Del_p.S732fs	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	732					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)		GTGGTGGCCAGCCCCATCGCT	0.612													-	404061	C	-	404061	7	5	202	1	0	1	0	1	0	0	0	0	11986	738	26	0	2238	0	PKP3	11	404061	Frame_Shift_Del	DEL	C	TCGA-D7-5579-01A-01D-1600-08		404061	134602455	98	111133											
OR52K1	390036	broad.mit.edu	37	chr11	4510935	4510935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcaccgtgtagcccgcCatgctgcccctcgtgtccac	9	18	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:4510935C>T	uc001lza.1	+	1	805	c.805C>T	c.(805-807)CAT>TAT	p.H269Y		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		TGTAGCCCGCCATGCTGCCCC	0.502													T	4510935	C	T	4510935	3	4	202	1	0	0	0	0	1	0	0	0	11123	594	21	4	807	4	OR52K1	11	4510935	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	4106874	4510935	130495581	99	111134											
CNGA4	1262	broad.mit.edu	37	chr11	6265440	6265440	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgatctacagaccaAgtttgctcgcctcctggctg	11	12	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:6265440A>C	uc001mco.2	+	6	1636	c.1529A>C	c.(1528-1530)AAG>ACG	p.K510T	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	510	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		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)		CTACAGACCAAGTTTGCTCGC	0.587													C	6265440	A	C	6265440	3	2	202	1	0	0	0	0	1	0	0	0	3599	72	3	5	1551	5	CNGA4	11	6265440	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	1754505	6265440	128741076	100	111135											
ST5	6764	broad.mit.edu	37	chr11	8752389	8752389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggtacgggtcagcaagaCgccccgggggccagctgctg	16	14	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:8752389C>T	uc001mgt.2	-	3	634	c.448G>A	c.(448-450)GTC>ATC	p.V150I	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.V150I|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.V150I	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	150					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTCAGCAAGACGCCCCGGGGG	0.682													T	8752389	C	T	8752389	3	4	202	1	0	0	0	0	1	0	0	0	15219	536	19	1	3037	1	ST5	11	8752389	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	2486949	8752389	126254127	101	111136											
ANO3	63982	broad.mit.edu	37	chr11	26552850	26552850	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctagaggagtcagactgctAtactggccccttcagccgtg	11	13	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:26552850A>C	uc001mqt.3	+	8	981	c.836A>C	c.(835-837)TAT>TCT	p.Y279S	ANO3_uc010rdr.1_Missense_Mutation_p.Y263S|ANO3_uc010rds.1_Missense_Mutation_p.Y118S|ANO3_uc010rdt.1_Missense_Mutation_p.Y133S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	279	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCAGACTGCTATACTGGCCCC	0.433													C	26552850	A	C	26552850	3	2	202	1	0	0	0	0	1	0	0	0	698	449	16	5	866	5	ANO3	11	26552850	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	17800461	26552850	108453666	102	111137											
OR8I2	120586	broad.mit.edu	37	chr11	55860973	55860973	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctatgtactttttcctgAgcaatttagcatttattgac	5	10	0	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:55860973A>C	uc010rix.1	+	1	190	c.190A>C	c.(190-192)AGC>CGC	p.S64R		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					CTTTTTCCTGAGCAATTTAGC	0.393													C	55860973	A	C	55860973	3	2	202	1	0	0	0	0	1	0	0	0	11240	304	11	5	192	5	OR8I2	11	55860973	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	29308123	55860973	79145543	103	111138											
MPEG1	219972	broad.mit.edu	37	chr11	58978631	58978631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataggacacttggcatccatCgctgatgagggctgggtgct	14	9	0	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:58978631C>T	uc001nnu.3	-	1	1864	c.1708G>A	c.(1708-1710)GAT>AAT	p.D570N		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	570	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				TGGCATCCATCGCTGATGAGG	0.607													T	58978631	C	T	58978631	3	4	202	1	0	0	0	0	1	0	0	0	9723	884	31	1	446	1	MPEG1	11	58978631	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	3117658	58978631	76027885	104	111139											
SHANK2	22941	broad.mit.edu	37	chr11	70506018	70506018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtactgtagggctgggAaagccggtgttggtgtgaat	17	6	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:70506018A>G	uc001oqc.2	-	14	2054	c.1976T>C	c.(1975-1977)TTC>TCC	p.F659S	SHANK2_uc010rqn.1_Missense_Mutation_p.F71S|SHANK2_uc001opz.2_Missense_Mutation_p.F71S|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.F71S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	280	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TAGGGCTGGGAAAGCCGGTGT	0.557													G	70506018	A	G	70506018	3	3	202	1	0	0	0	0	1	0	0	0	14265	246	9	3	3613	3	SHANK2	11	70506018	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	11527387	70506018	64500498	105	111140											
SIK2	23235	broad.mit.edu	37	chr11	111594234	111594234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttaggctccagcagaagcGactctttcttcagaagcagt	9	10	3	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:111594234G>A	uc001plt.2	+	15	2280	c.2162G>A	c.(2161-2163)CGA>CAA	p.R721Q		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	721					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CAGCAGAAGCGACTCTTTCTT	0.428													A	111594234	G	A	111594234	3	1	202	1	0	0	0	0	1	0	0	0	14318	1058	37	1	2220	1	SIK2	11	111594234	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	41088216	111594234	23412282	106	111141											
TTC12	54970	broad.mit.edu	37	chr11	113222820	113222820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccaaggtaagcagctcctCggctctgtgccagtgcattg	11	13	1	0	rs147647661		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:113222820C>T	uc001pnu.2	+	16	1442	c.1337C>T	c.(1336-1338)TCG>TTG	p.S446L	TTC12_uc001pnv.2_Missense_Mutation_p.S452L|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.S296L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	446							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGCAGCTCCTCGGCTCTGTGC	0.542													T	113222820	C	T	113222820	3	4	202	1	0	0	0	0	1	0	0	0	16676	893	31	1	1395	1	TTC12	11	113222820	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	1628586	113222820	21783696	107	111142											
OR6T1	219874	broad.mit.edu	37	chr11	123813599	123813599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgacttgtgaccctcAgtttcatcacagcagtgagc	8	12	3	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:123813599A>C	uc010sab.1	-	1	947	c.947T>G	c.(946-948)CTG>CGG	p.L316R		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		TGTGACCCTCAGTTTCATCAC	0.428													C	123813599	A	C	123813599	3	2	202	1	0	0	0	0	1	0	0	0	11210	188	7	5	27	5	OR6T1	11	123813599	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	10590779	123813599	11192917	108	111143											
CLEC7A	64581	broad.mit.edu	37	chr12	10271125	10271125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttggtcataaatgactgAcacgtgaatccatacacaat	7	9	1	3	rs144851220		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:10271125A>G	uc001qxg.2	-	6	863	c.676T>C	c.(676-678)TCA>CCA	p.S226P	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.S180P|CLEC7A_uc001qxh.2_Missense_Mutation_p.V140A|CLEC7A_uc001qxi.2_Missense_Mutation_p.V186A|CLEC7A_uc001qxj.2_Missense_Mutation_p.S147P|CLEC7A_uc009zhg.1_RNA|CLEC7A_uc001qxk.1_RNA	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	226	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						TAAATGACTGACACGTGAATC	0.378													G	10271125	A	G	10271125	3	3	202	1	0	0	0	0	1	0	0	0	3521	275	10	3	71	3	CLEC7A	12	10271125	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08		10271125	123580770	109	111144											
LRRK2	120892	broad.mit.edu	37	chr12	40745528	40745528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaatactgaaggatacaCttctgaggtaaatccaaatg	7	7	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:40745528C>T	uc001rmg.3	+	44	6690	c.6569C>T	c.(6568-6570)ACT>ATT	p.T2190I	LRRK2_uc009zjw.2_Missense_Mutation_p.T1028I|LRRK2_uc001rmi.2_Missense_Mutation_p.T1023I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2190					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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAAGGATACACTTCTGAGGTA	0.383													T	40745528	C	T	40745528	3	4	202	1	0	0	0	0	1	0	0	0	9033	565	20	4	6743	4	LRRK2	12	40745528	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	30474403	40745528	93106367	110	111145											
PDZRN4	29951	broad.mit.edu	37	chr12	41966968	41966968	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgacctccaccaaagccaAaaccactgagcaaggttgta	8	13	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:41966968A>C	uc010skn.1	+	10	1858	c.1790A>C	c.(1789-1791)AAA>ACA	p.K597T	PDZRN4_uc001rmq.3_Missense_Mutation_p.K538T|PDZRN4_uc009zjz.2_Missense_Mutation_p.K536T|PDZRN4_uc001rmr.2_Missense_Mutation_p.K423T	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	796							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCAAAGCCAAAACCACTGAG	0.498													C	41966968	A	C	41966968	3	2	202	1	0	0	0	0	1	0	0	0	11710	14	1	5	2498	5	PDZRN4	12	41966968	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	1221440	41966968	91884927	111	111146											
ADCY6	112	broad.mit.edu	37	chr12	49168189	49168189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactggacccttaccatgTtggcaatggcagaagtaaac	9	12	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:49168189T>C	uc001rsh.3	-	13	2939	c.2279A>G	c.(2278-2280)AAC>AGC	p.N760S	ADCY6_uc001rsj.3_Missense_Mutation_p.N760S|ADCY6_uc001rsi.3_Missense_Mutation_p.N760S|ADCY6_uc010slw.1_5'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	760	Extracellular (Potential).				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	ATP binding|metal ion binding				0						CCTTACCATGTTGGCAATGGC	0.373													C	49168189	T	C	49168189	3	2	202	1	0	0	0	0	1	0	0	0	298	1725	60	3	1263	3	ADCY6	12	49168189	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	7201221	49168189	84683706	112	111147											
AQP2	359	broad.mit.edu	37	chr12	50344542	50344542	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttgagaaagagagcgatAgagtgcgagagcgagtgccc	16	8	0	4			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:50344542A>G	uc001rvn.2	+	1	19	c.-71A>G	c.(-73--69)ATAGA>ATGGA			NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2						cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						AGAGAGCGATAGAGTGCGAGA	0.637													G	50344542	A	G	50344542	1	3	202	1	0	0	0	0	0	0	0	0	826	435	15	3		3	AQP2	12	50344542	Translation_Start_Site	SNP	A	TCGA-D7-5579-01A-01D-1600-08	1176353	50344542	83507353	113	111148											
CBX5	23468	broad.mit.edu	37	chr12	54651321	54651321	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagcctttccacttcagTagatattccacttgtccctt	5	12	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:54651321T>G	uc001sfh.3	-	2	432	c.114A>C	c.(112-114)CTA>CTC	p.L38L	CBX5_uc001sfk.3_Silent_p.L38L|CBX5_uc001sfi.3_Silent_p.L38L|CBX5_uc001sfj.3_Silent_p.L38L	NM_001127322	NP_001120794	P45973	CBX5_HUMAN	heterochromatin protein 1-alpha	38	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding				0						TCCACTTCAGTAGATATTCCA	0.468													G	54651321	T	G	54651321	2	3	202	1	0	0	0	0	0	0	0	1	2721	1625	57	5		5	CBX5	12	54651321	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	4306779	54651321	79200574	114	111149											
NEUROD4	58158	broad.mit.edu	37	chr12	55420235	55420235	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctggaaatgtcaaaaacTtttgtaaaatccaaggagat	8	5	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:55420235T>G	uc001sgp.3	+	2	390	c.12T>G	c.(10-12)ACT>ACG	p.T4T		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	4					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						TGTCAAAAACTTTTGTAAAAT	0.378													G	55420235	T	G	55420235	2	3	202	1	0	0	0	0	0	0	0	1	10350	1596	56	5		5	NEUROD4	12	55420235	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	768914	55420235	78431660	115	111150											
OR6C2	341416	broad.mit.edu	37	chr12	55846327	55846327	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttggagcaacagaattTtttctcttggcagccatgtc	8	10	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:55846327T>C	uc001sgz.1	+	1	330	c.330T>C	c.(328-330)TTT>TTC	p.F110F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CAACAGAATTTTTTCTCTTGG	0.403													C	55846327	T	C	55846327	2	2	202	1	0	0	0	0	0	0	0	1	11191	1838	64	3		3	OR6C2	12	55846327	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	426092	55846327	78005568	116	111151											
CD63	967	broad.mit.edu	37	chr12	56120706	56120706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatagccagcaatggctgCggccacctccaccaacatga	8	16	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:56120706C>T	uc001shm.2	-	3	394	c.298G>A	c.(298-300)GCA>ACA	p.A100T	CD63_uc009znz.2_Missense_Mutation_p.A77T|CD63_uc001shn.2_Missense_Mutation_p.A100T|CD63_uc001sho.2_Missense_Mutation_p.A100T|CD63_uc001shp.2_Missense_Mutation_p.A100T	NM_001780	NP_001771	P08962	CD63_HUMAN	CD63 antigen isoform A	100	Helical; (Potential).				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane					0						GCAATGGCTGCGGCCACCTCC	0.512													T	56120706	C	T	56120706	3	4	202	1	0	0	0	0	1	0	0	0	3029	768	27	1	438	1	CD63	12	56120706	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	274379	56120706	77731189	117	111152											
PPFIA2	8499	broad.mit.edu	37	chr12	81719569	81719569	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctactttttctttagtcTtcgatccttctcagcttgag	5	11	3	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:81719569T>G	uc001szo.1	-	22	2790	c.2629A>C	c.(2629-2631)AGA>CGA	p.R877R	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	803										ovary(3)|lung(2)|pancreas(1)	6						TTCTTTAGTCTTCGATCCTTC	0.393													G	81719569	T	G	81719569	2	3	202	1	0	0	0	0	0	0	0	1	12310	1617	56	5		5	PPFIA2	12	81719569	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08	25598863	81719569	52132326	118	111153											
RAD9B	144715	broad.mit.edu	37	chr12	110943579	110943579	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaattgggaatgaaggTaaatataagtggccctggtt	12	4	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:110943579T>A	uc001trf.3	+	3	411	c.273_splice	c.e3+2	p.K91_splice	RAD9B_uc001trg.3_Splice_Site_p.K91_splice|RAD9B_uc010sya.1_Splice_Site_p.K91_splice|RAD9B_uc001tre.3_Splice_Site_p.K19_splice|RAD9B_uc001trd.3_Splice_Site	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B						cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2						GGAATGAAGGTAAATATAAGT	0.323													A	110943579	T	A	110943579	5	1	202	1	0	0	0	0	0	0	1	0	12996	1652	57	5	285	5	RAD9B	12	110943579	Splice_Site	SNP	T	TCGA-D7-5579-01A-01D-1600-08	29224010	110943579	22908316	119	111154											
COG6	57511	broad.mit.edu	37	chr13	40293448	40293448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctgcgtgaagttttaGcatctcacgattcttcagtt	9	8	3	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr13:40293448G>C	uc001uxh.2	+	14	1460	c.1360G>C	c.(1360-1362)GCA>CCA	p.A454P	COG6_uc001uxi.2_Missense_Mutation_p.A402P|COG6_uc010acb.2_Missense_Mutation_p.A454P	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	454					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TGAAGTTTTAGCATCTCACGA	0.383													C	40293448	G	C	40293448	3	2	202	1	0	0	0	0	1	0	0	0	3662	971	34	5	1414	5	COG6	13	40293448	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08		40293448	74876430	120	111155											
SPERT	220082	broad.mit.edu	37	chr13	46287709	46287709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagaacaaggccctgcgCgaggagaaccggatgctcag	16	10	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr13:46287709C>T	uc001van.1	+	3	629	c.549C>T	c.(547-549)CGC>CGT	p.R183R	SPERT_uc001vao.2_Silent_p.R147R	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	183	Potential.					cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		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)		AGGCCCTGCGCGAGGAGAACC	0.632													T	46287709	C	T	46287709	2	4	202	1	0	0	0	0	0	0	0	1	15038	755	27	1		1	SPERT	13	46287709	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	5994261	46287709	68882169	121	111156											
OR4K15	81127	broad.mit.edu	37	chr14	20443925	20443925	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgccttcacacccccaTgtactttctgcttgcaaacc	4	18	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:20443925T>G	uc010tkx.1	+	1	248	c.248T>G	c.(247-249)ATG>AGG	p.M83R		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	83	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACCCCCATGTACTTTCTG	0.418													G	20443925	T	G	20443925	3	3	202	1	0	0	0	0	1	0	0	0	11070	1464	51	5	250	5	OR4K15	14	20443925	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08		20443925	86905615	122	111157											
SUPT16H	11198	broad.mit.edu	37	chr14	21840168	21840168	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtcatcacaaaagaccatGatagtatcagttagttcata	6	7	4	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:21840168G>A	uc001wao.2	-	3	534	c.195C>T	c.(193-195)ATC>ATT	p.I65I		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	65					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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAAAGACCATGATAGTATCAG	0.348													A	21840168	G	A	21840168	2	1	202	1	0	0	0	0	0	0	0	1	15393	1280	45	4		4	SUPT16H	14	21840168	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	1396243	21840168	85509372	123	111158											
SYNE2	23224	broad.mit.edu	37	chr14	64443311	64443311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaataaagctaaattatGccttgcccccacccctccat	5	14	0	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:64443311G>A	uc001xgm.2	+	12	1389	c.1159G>A	c.(1159-1161)GCC>ACC	p.A387T	SYNE2_uc001xgl.2_Missense_Mutation_p.A387T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	387	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTAAATTATGCCTTGCCCCC	0.383													A	64443311	G	A	64443311	3	1	202	1	0	0	0	0	1	0	0	0	15443	1319	46	2	1201	2	SYNE2	14	64443311	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	42603143	64443311	42906229	124	111159											
NRXN3	9369	broad.mit.edu	37	chr14	79117586	79117586	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctgggctcggacgacTtcttctatgtaggaggaagc	13	10	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:79117586T>G	uc001xun.2	+	3	510	c.19T>G	c.(19-21)TTC>GTC	p.F7V	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.F141V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	380	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTCGGACGACTTCTTCTATGT	0.522													G	79117586	T	G	79117586	3	3	202	1	0	0	0	0	1	0	0	0	10667	1609	56	5	21	5	NRXN3	14	79117586	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	14674275	79117586	28231954	125	111160											
SERPINA3	12	broad.mit.edu	37	chr14	95081072	95081072	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cataataccaccctgacagaGattctcaaaggcctcaagtt	6	12	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:95081072G>A	uc001ydp.2	+	2	373	c.294G>A	c.(292-294)GAG>GAA	p.E98E	SERPINA3_uc001ydo.3_Silent_p.E123E|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.E98E|SERPINA3_uc001yds.2_Silent_p.E98E|SERPINA3_uc010avg.2_Silent_p.E98E	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	98					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			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCCTGACAGAGATTCTCAAAG	0.547													A	95081072	G	A	95081072	2	1	202	1	0	0	0	0	0	0	0	1	14090	933	33	4		4	SERPINA3	14	95081072	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	15963486	95081072	12268468	126	111161											
C15orf23	90417	broad.mit.edu	37	chr15	40675071	40675071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccccgcccctggacagagTtttccgtacaacatggctgt	10	14	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:40675071T>G	uc001zll.2	+	1	150	c.35T>G	c.(34-36)GTT>GGT	p.V12G	C15orf23_uc010ucp.1_Missense_Mutation_p.V12G|C15orf23_uc001zlo.2_Missense_Mutation_p.V12G|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	12						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CTGGACAGAGTTTTCCGTACA	0.592													G	40675071	T	G	40675071	3	3	202	1	0	0	0	0	1	0	0	0	1785	1725	60	5	37	5	C15orf23	15	40675071	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08		40675071	61856321	127	111162											
WDR76	79968	broad.mit.edu	37	chr15	44127267	44127267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaattttataggatttttcGggattgtcaccctacgaaag	9	6	1	0	rs149899666		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:44127267G>A	uc001zti.1	+	3	494	c.471G>A	c.(469-471)TCG>TCA	p.S157S		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	157											0		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)		AGGATTTTTCGGGATTGTCAC	0.338													A	44127267	G	A	44127267	2	1	202	1	0	0	0	0	0	0	0	1	17323	1103	39	1		1	WDR76	15	44127267	Silent	SNP	G	TCGA-D7-5579-01A-01D-1600-08	3452196	44127267	58404125	128	111163											
SEMA6D	80031	broad.mit.edu	37	chr15	48051998	48051998	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acttcaccttggcccaccatGagggtcttcctgctttgtgc	9	14	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:48051998G>T	uc010bek.2	+	2	363	c.3G>T	c.(1-3)ATG>ATT	p.M1I	SEMA6D_uc001zvw.2_Missense_Mutation_p.M1I|SEMA6D_uc001zvx.1_Missense_Mutation_p.M1I|SEMA6D_uc001zvy.2_Missense_Mutation_p.M1I|SEMA6D_uc001zvz.2_Missense_Mutation_p.M1I|SEMA6D_uc001zwa.2_Missense_Mutation_p.M1I|SEMA6D_uc001zwb.2_Missense_Mutation_p.M1I|SEMA6D_uc001zwc.2_Missense_Mutation_p.M1I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	1					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		GGCCCACCATGAGGGTCTTCC	0.502													T	48051998	G	T	48051998	3	4	202	1	0	0	0	0	1	0	0	0	14042	1290	45	5	5	5	SEMA6D	15	48051998	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	3924731	48051998	54479394	129	111164											
PARP6	56965	broad.mit.edu	37	chr15	72533830	72533830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgagttccgatcacacgcAtgatttccttctgtatcttg	7	12	3	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:72533830A>G	uc002auc.2	-	23	2318	c.1859T>C	c.(1858-1860)ATG>ACG	p.M620T	PARP6_uc002aua.2_Missense_Mutation_p.M466T|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	620	PARP catalytic.						NAD+ ADP-ribosyltransferase activity				0						GATCACACGCATGATTTCCTT	0.507													G	72533830	A	G	72533830	3	3	202	1	0	0	0	0	1	0	0	0	11464	217	8	3	37	3	PARP6	15	72533830	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	24481832	72533830	29997562	130	111165											
SCAPER	49855	broad.mit.edu	37	chr15	77064249	77064249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttcgaacataattgtctCgaatactgccagaattcttc	6	9	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:77064249C>T	uc002bby.2	-	9	1141	c.1082G>A	c.(1081-1083)CGA>CAA	p.R361Q	SCAPER_uc002bbx.2_Missense_Mutation_p.R115Q|SCAPER_uc002bbz.1_Missense_Mutation_p.R226Q|SCAPER_uc002bca.1_Missense_Mutation_p.R226Q|SCAPER_uc002bcb.1_Missense_Mutation_p.R361Q|SCAPER_uc002bcc.1_Missense_Mutation_p.R361Q	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	360						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						ATAATTGTCTCGAATACTGCC	0.358													T	77064249	C	T	77064249	3	4	202	1	0	0	0	0	1	0	0	0	13878	884	31	1	3212	1	SCAPER	15	77064249	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	4530419	77064249	25467143	131	111166											
ZNF592	9640	broad.mit.edu	37	chr15	85341579	85341579	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctcctgtgaaatggtcttCaacaagaagaggcacattca	9	9	3	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:85341579C>G	uc002bld.2	+	7	2946	c.2610C>G	c.(2608-2610)TTC>TTG	p.F870L	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	870					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAATGGTCTTCAACAAGAAGA	0.532													G	85341579	C	G	85341579	3	3	202	1	0	0	0	0	1	0	0	0	18019	825	29	5	2624	5	ZNF592	15	85341579	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	8277330	85341579	17189813	132	111167											
ALDH1A3	220	broad.mit.edu	37	chr15	101434165	101434165	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgtcgcagtggaacTtccccctgctgatgctggtg	13	12	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:101434165T>G	uc002bwn.3	+	6	648	c.544T>G	c.(544-546)TTC>GTC	p.F182V	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	182					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	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)	GCAGTGGAACTTCCCCCTGCT	0.592													G	101434165	T	G	101434165	3	3	202	1	0	0	0	0	1	0	0	0	492	1609	56	5	566	5	ALDH1A3	15	101434165	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	16092586	101434165	1097227	133	111168											
NAT15	79903	broad.mit.edu	37	chr16	3533574	3533574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcctctacatcaacggCggccaccctccctggacgat	8	16	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:3533574C>T	uc002cvh.3	+	6	795	c.549C>T	c.(547-549)GGC>GGT	p.G183G	NAT15_uc010uxb.1_Silent_p.G190G|NAT15_uc010btk.1_Silent_p.G118G|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Silent_p.G183G|NAT15_uc010uxc.1_Silent_p.G183G|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Silent_p.G183G	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	183							N-acetyltransferase activity				0						ACATCAACGGCGGCCACCCTC	0.512													T	3533574	C	T	3533574	2	4	202	1	0	0	0	0	0	0	0	1	10176	755	27	1		1	NAT15	16	3533574	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08		3533574	86821179	134	111169											
A2BP1	54715	broad.mit.edu	37	chr16	7568390	7568390	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtctctggcaccgccaCagtaagtggacgtgtttgct	12	12	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:7568390C>G	uc002cys.2	+	5	1257	c.269C>G	c.(268-270)ACA>AGA	p.T90R	A2BP1_uc010buf.1_Missense_Mutation_p.T90R|A2BP1_uc002cyr.1_Missense_Mutation_p.T90R|A2BP1_uc002cyt.2_Missense_Mutation_p.T90R|A2BP1_uc010uxz.1_Missense_Mutation_p.T133R|A2BP1_uc010uya.1_Missense_Mutation_p.T126R|A2BP1_uc002cyv.1_Missense_Mutation_p.T90R|A2BP1_uc010uyb.1_Missense_Mutation_p.T90R|A2BP1_uc002cyw.2_Missense_Mutation_p.T110R|A2BP1_uc002cyy.2_Missense_Mutation_p.T110R|A2BP1_uc002cyx.2_Missense_Mutation_p.T110R|A2BP1_uc010uyc.1_Missense_Mutation_p.T110R	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	90					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GGCACCGCCACAGTAAGTGGA	0.652													G	7568390	C	G	7568390	3	3	202	1	0	0	0	0	1	0	0	0	3	492	17	5	366	5	A2BP1	16	7568390	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	4034816	7568390	82786363	135	111170											
NFATC2IP	84901	broad.mit.edu	37	chr16	28975126	28975126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacaaagctttcaggcaGggagctgccagctgacctgg	15	10	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:28975126G>A	uc002dru.2	+	8	1217	c.1202G>A	c.(1201-1203)AGG>AAG	p.R401K	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.R122K|NFATC2IP_uc002drv.2_Missense_Mutation_p.R120K|NFATC2IP_uc010vdh.1_Missense_Mutation_p.R109K	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	401	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1						CTTTCAGGCAGGGAGCTGCCA	0.587													A	28975126	G	A	28975126	3	1	202	1	0	0	0	0	1	0	0	0	10363	1000	35	4	1232	4	NFATC2IP	16	28975126	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	21406736	28975126	61379627	136	111171											
AKTIP	64400	broad.mit.edu	37	chr16	53529186	53529186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcttacttaatgcagagcGataagatggctgcacataga	9	8	1	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:53529186G>A	uc002ehk.2	-	4	512	c.301C>T	c.(301-303)CGC>TGC	p.R101C	AKTIP_uc002ehl.2_Missense_Mutation_p.R101C|AKTIP_uc002ehm.2_Missense_Mutation_p.R101C|AKTIP_uc010vgx.1_Missense_Mutation_p.R101C	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	101					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)				AATGCAGAGCGATAAGATGGC	0.383													A	53529186	G	A	53529186	3	1	202	1	0	0	0	0	1	0	0	0	482	1058	37	1	605	1	AKTIP	16	53529186	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	24554060	53529186	36825567	137	111172											
ANKRD11	29123	broad.mit.edu	37	chr16	89349184	89349184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtccgacttctctttgtGtttgcttttagccttgtctt	7	9	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:89349184G>A	uc002fmx.1	-	9	4227	c.3766C>T	c.(3766-3768)CAC>TAC	p.H1256Y	ANKRD11_uc002fmy.1_Missense_Mutation_p.H1256Y|ANKRD11_uc002fnc.1_Missense_Mutation_p.H1256Y|ANKRD11_uc002fnb.1_Missense_Mutation_p.H1213Y	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1256	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TTCTCTTTGTGTTTGCTTTTA	0.483													A	89349184	G	A	89349184	3	1	202	1	0	0	0	0	1	0	0	0	639	1377	48	4	4245	4	ANKRD11	16	89349184	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	35819998	89349184	1005569	138	111173											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	11	14	2	2	rs55863639		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:7579312C>G	uc002gim.2	-	4	569	c.375G>C	c.(373-375)ACG>ACC	p.T125T	TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	125	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			G	7579312	C	G	7579312	2	3	202	1	0	0	0	0	0	0	0	1	16378	666	23	5		5	TP53	17	7579312	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08		7579312	73615898	139	111174											
ULK2	9706	broad.mit.edu	37	chr17	19687104	19687104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaggcacgtatctcaggCtgggagctgcctctgctcct	12	13	2	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:19687104C>T	uc002gwm.3	-	22	2875	c.2366G>A	c.(2365-2367)AGC>AAC	p.S789N	ULK2_uc002gwn.2_Missense_Mutation_p.S789N	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	789					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTATCTCAGGCTGGGAGCTGC	0.647													T	19687104	C	T	19687104	3	4	202	1	0	0	0	0	1	0	0	0	16973	797	28	2	768	2	ULK2	17	19687104	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	12107792	19687104	61508106	140	111175											
SLFN12	55106	broad.mit.edu	37	chr17	33749727	33749727	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgttcaagctccatgacttCacaaaaatcagaaagtagtt	7	8	3	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:33749727C>G	uc002hji.3	-	2	698	c.321G>C	c.(319-321)GTG>GTC	p.V107V	SLFN12_uc002hjj.3_Silent_p.V107V|SLFN12_uc010cts.2_Silent_p.V107V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	107							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCATGACTTCACAAAAATCA	0.373													G	33749727	C	G	33749727	2	3	202	1	0	0	0	0	0	0	0	1	14734	813	29	5		5	SLFN12	17	33749727	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	14062623	33749727	47445483	141	111176											
TBC1D3B	414059	broad.mit.edu	37	chr17	34497333	34497333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatagaggaggaacaaggCggcgatgtggctcaggtccc	15	8	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:34497333C>T	uc002hky.2	-	9	733	c.583G>A	c.(583-585)GCC>ACC	p.A195T	uc002khr.2_5'Flank|uc002hlc.2_5'Flank	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	195	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGAACAAGGCGGCGATGTGG	0.602													T	34497333	C	T	34497333	3	4	202	1	0	0	0	0	1	0	0	0	15617	768	27	1	1090	1	TBC1D3B	17	34497333	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	747606	34497333	46697877	142	111177											
SGCA	6442	broad.mit.edu	37	chr17	48244954	48244954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccagctgtcccacccGctgtccacatcacctaccac	4	21	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:48244954G>A	uc002iqi.2	+	3	205	c.169G>A	c.(169-171)GCT>ACT	p.A57T	SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Missense_Mutation_p.A57T|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	57	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						TGTCCCACCCGCTGTCCACAT	0.697													A	48244954	G	A	48244954	3	1	202	1	0	0	0	0	1	0	0	0	14199	1087	38	1	179	1	SGCA	17	48244954	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	13747621	48244954	32950256	143	111178											
ABCA5	23461	broad.mit.edu	37	chr17	67260957	67260958	+	Frame_Shift_Ins	INS	-	-	A													gcatcaaaataagaatgataINSaaaaataaggggatatcaac							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:67260956_67260957T>TA	uc002jif.2	-	22	4452_4453	c.3234_3235A>TA	c.(3232-3237)tttatcfs	p.F1078fs	ABCA5_uc002jib.2_Frame_Shift_Ins_p.F44fs|ABCA5_uc002jic.2_Frame_Shift_Ins_p.F301fs|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Ins_p.F1078fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1078					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)					ATAAGAATGATAAAAAATAAGG	0.307													A	67260958	-	A	67260957	7	5	202	1	0	1	1	0	0	0	0	0	35	359	13	0	1758	0	ABCA5	17	67260957	Frame_Shift_Ins	INS	-	TCGA-D7-5579-01A-01D-1600-08	19016003	67260957	13934253	144	111179											
CD300LD	100131439	broad.mit.edu	37	chr17	72578366	72578366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccacctacctggtgaggGggctgctggtcttctgggtg	16	11	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:72578366G>A	uc002jkz.2	-	3	493	c.464C>T	c.(463-465)CCC>CTC	p.P155L	C17orf77_uc002jla.1_5'Flank	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d precursor	155	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity				0						CCTGGTGAGGGGGCTGCTGGT	0.493													A	72578366	G	A	72578366	3	1	202	1	0	0	0	0	1	0	0	0	3000	1232	43	4	128	4	CD300LD	17	72578366	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	5317409	72578366	8616844	145	111180											
FAM38B	63895	broad.mit.edu	37	chr18	10680265	10680265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcgtgtatcattttcTgcttactgggtgggctgatg	14	6	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr18:10680265T>C	uc002kor.3	-	10	1555	c.1415A>G	c.(1414-1416)CAG>CGG	p.Q472R	FAM38B_uc002koq.2_Missense_Mutation_p.Q307R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2515						integral to membrane	ion channel activity			ovary(1)	1						TATCATTTTCTGCTTACTGGG	0.378													C	10680265	T	C	10680265	3	2	202	1	0	0	0	0	1	0	0	0	5555	1580	55	3	734	3	FAM38B	18	10680265	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08		10680265	67396983	146	111181											
NOL4	8715	broad.mit.edu	37	chr18	31432850	31432850	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttcatctgcagatcGcaataaaaatgcagctgatt	7	9	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr18:31432850G>A	uc010dmi.2	-	11	2102	c.1873C>T	c.(1873-1875)CGA>TGA	p.R625*	NOL4_uc010xbs.1_Nonsense_Mutation_p.R340*|NOL4_uc002kxr.3_Nonsense_Mutation_p.R397*|NOL4_uc010xbt.1_Nonsense_Mutation_p.R551*|NOL4_uc010dmh.2_Nonsense_Mutation_p.R487*|NOL4_uc010xbu.1_Nonsense_Mutation_p.R561*|NOL4_uc002kxt.3_Nonsense_Mutation_p.R523*	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	625						nucleolus	RNA binding			ovary(3)	3						TCTGCAGATCGCAATAAAAAT	0.438													A	31432850	G	A	31432850	4	1	202	1	0	0	0	0	0	1	0	0	10524	1095	38	1	47	1	NOL4	18	31432850	Nonsense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	20752585	31432850	46644398	147	111182											
MUC16	94025	broad.mit.edu	37	chr19	8976841	8976841	+	Silent	SNP	C	C	T													gtgaagttgagtgtgagggtCttcaggtggtaccccatggc							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:8976841C>T	uc002mkp.2	-	73	42429	c.42225G>A	c.(42223-42225)AAG>AAA	p.K14075K	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.K875K|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGTGAGGGTCTTCAGGTGGT	0.537													T	8976841	C	T	8976841	2	4	202	1	0	0	0	0	0	0	0	1	9973	912	32	4		4	MUC16	19	8976841	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08		8976841	50152142	148	111183	523	2									
MUC16	94025	broad.mit.edu	37	chr19	8976844	8976844	+	Silent	SNP	C	C	T													aagttgagtgtgagggtcttCaggtggtaccccatggctgc							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:8976844C>T	uc002mkp.2	-	73	42426	c.42222G>A	c.(42220-42222)CTG>CTA	p.L14074L	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L874L|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	14104	SEA 14.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAGGGTCTTCAGGTGGTACC	0.542													T	8976844	C	T	8976844	2	4	202	1	0	0	0	0	0	0	0	1	9973	813	29	4		4	MUC16	19	8976844	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	3	8976844	50152139	149	111184	523	2									
EIF3G	8666	broad.mit.edu	37	chr19	10230359	10230359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctccacctggtcgGcccaactgggcttcgaactg	9	18	0	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:10230359G>T	uc002mnd.2	-	2	102	c.38C>A	c.(37-39)GCC>GAC	p.A13D	EIF3G_uc010dxa.2_Missense_Mutation_p.A13D|EIF3G_uc010xlb.1_Missense_Mutation_p.A13D	NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	13						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CACCTGGTCGGCCCAACTGGG	0.637											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10230359	G	T	10230359	3	4	202	1	0	0	0	0	1	0	0	0	5017	1203	42	5	964	5	EIF3G	19	10230359	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	1253515	10230359	48898624	150	111185											
PGLS	25796	broad.mit.edu	37	chr19	17628610	17628610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgtcctgaatgcagcacGaactgtcatctttgtggcaa	9	11	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:17628610G>A	uc002ngw.2	+	4	640	c.590G>A	c.(589-591)CGA>CAA	p.R197Q		NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	197						cytosol	6-phosphogluconolactonase activity				0						AATGCAGCACGAACTGTCATC	0.572													A	17628610	G	A	17628610	3	1	202	1	0	0	0	0	1	0	0	0	11792	1058	37	1	604	1	PGLS	19	17628610	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	7398251	17628610	41500373	151	111186											
C19orf47	126526	broad.mit.edu	37	chr19	40827891	40827891	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcccccggggccccacCagagtcctcttaatggtgac	10	17	1	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:40827891C>A	uc002oni.3	-	9	1168	c.1167G>T	c.(1165-1167)CTG>CTT	p.L389L	C19orf47_uc002ong.2_Silent_p.L248L|C19orf47_uc002onh.2_Silent_p.L322L	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	389										ovary(1)|skin(1)	2			Lung(22;0.000636)			GGGGCCCCACCAGAGTCCTCT	0.647													A	40827891	C	A	40827891	2	1	202	1	0	0	0	0	0	0	0	1	1930	581	21	5		5	C19orf47	19	40827891	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	23199281	40827891	18301092	152	111187											
SPTBN4	57731	broad.mit.edu	37	chr19	41063307	41063307	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagctcctcgtgtccCaggtggggcgccggtggcca	15	15	0	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:41063307C>T	uc002ony.2	+	26	5754	c.5668C>T	c.(5668-5670)CAG>TAG	p.Q1890*	SPTBN4_uc002onx.2_Nonsense_Mutation_p.Q1890*|SPTBN4_uc002onz.2_Nonsense_Mutation_p.Q1890*|SPTBN4_uc010egx.2_Nonsense_Mutation_p.Q633*|SPTBN4_uc002ooa.2_Nonsense_Mutation_p.Q566*	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1890	Spectrin 16.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCGTGTCCCAGGTGGGGCG	0.657													T	41063307	C	T	41063307	4	4	202	1	0	0	0	0	0	1	0	0	15120	595	21	4	5766	4	SPTBN4	19	41063307	Nonsense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	235416	41063307	18065676	153	111188											
TOMM40	10452	broad.mit.edu	37	chr19	45406290	45406290	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagctcttccctgcaggctCtgtggatagcaactggatcg	11	12	3	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:45406290C>G	uc002ozx.3	+	10	1051	c.950C>G	c.(949-951)TCT>TGT	p.S317C	TOMM40_uc002ozy.3_Missense_Mutation_p.S317C|TOMM40_uc002paa.3_Missense_Mutation_p.S317C|TOMM40_uc002ozz.2_3'UTR|APOE_uc002pab.2_5'Flank	NM_006114	NP_006105	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40	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				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCTGCAGGCTCTGTGGATAGC	0.592													G	45406290	C	G	45406290	3	3	202	1	0	0	0	0	1	0	0	0	16355	913	32	5	984	5	TOMM40	19	45406290	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	4342983	45406290	13722693	154	111189											
NLRP8	126205	broad.mit.edu	37	chr19	56466423	56466423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggccacgctactgatcatGataagatttacctcttggca	9	10	2	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:56466423G>A	uc002qmh.2	+	3	1070	c.999G>A	c.(997-999)ATG>ATA	p.M333I	NLRP8_uc010etg.2_Missense_Mutation_p.M333I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	333	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TACTGATCATGATAAGATTTA	0.478													A	56466423	G	A	56466423	3	1	202	1	0	0	0	0	1	0	0	0	10483	1290	45	4	1009	4	NLRP8	19	56466423	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	11060133	56466423	2662560	155	111190											
CSNK2A1	1457	broad.mit.edu	37	chr20	472990	472990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgataaaactcagccaaacCccagtctattagtcgtagct	6	11	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:472990C>T	uc002wdw.1	-	9	922	c.529G>A	c.(529-531)GGT>AGT	p.G177S	CSNK2A1_uc002wdx.1_Missense_Mutation_p.G177S|CSNK2A1_uc002wdy.1_Missense_Mutation_p.G41S	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	177	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TCAGCCAAACCCCAGTCTATT	0.398													T	472990	C	T	472990	3	4	202	1	0	0	0	0	1	0	0	0	3957	623	22	4	670	4	CSNK2A1	20	472990	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08		472990	62552530	156	111191											
SIGLEC1	6614	broad.mit.edu	37	chr20	3683946	3683946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagtggccaagtgcagccGgagggtatgggagtgggcat	18	8	0	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:3683946G>A	uc002wja.2	-	5	1126	c.1126C>T	c.(1126-1128)CGG>TGG	p.R376W	SIGLEC1_uc002wiz.3_Missense_Mutation_p.R376W|SIGLEC1_uc002wjc.2_Missense_Mutation_p.R287W	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	376	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AAGTGCAGCCGGAGGGTATGG	0.582													A	3683946	G	A	3683946	3	1	202	1	0	0	0	0	1	0	0	0	14305	1115	39	1	4071	1	SIGLEC1	20	3683946	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	3210956	3683946	59341574	157	111192											
ADA	100	broad.mit.edu	37	chr20	43251555	43251555	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcccagccgctctgtcTtgagtatgtccacagcctgt	10	14	2	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:43251555T>A	uc002xmj.2	-	8	823	c.695A>T	c.(694-696)AAG>ATG	p.K232M	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	232					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CCGCTCTGTCTTGAGTATGTC	0.582									Adenosine_Deaminase_Deficiency				A	43251555	T	A	43251555	3	1	202	1	0	0	0	0	1	0	0	0	230	1609	56	5	416	5	ADA	20	43251555	Missense_Mutation	SNP	T	TCGA-D7-5579-01A-01D-1600-08	39567609	43251555	19773965	158	111193											
NCOA3	8202	broad.mit.edu	37	chr20	46254223	46254223	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccttaggaccgcttttacttCaggcaagtataaagatttta	7	8	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:46254223C>T	uc002xtk.2	+	5	560	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	NCOA3_uc010ght.1_Nonsense_Mutation_p.Q119*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.Q119*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.Q119*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.Q119*|NCOA3_uc010zyc.1_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	119	PAS.				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			ovary(3)|lung(1)|skin(1)	5						GCTTTTACTTCAGGCAAGTAT	0.343													T	46254223	C	T	46254223	4	4	202	1	0	0	0	0	0	1	0	0	10230	827	29	4	365	4	NCOA3	20	46254223	Nonsense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	3002668	46254223	16771297	159	111194											
ZNF831	128611	broad.mit.edu	37	chr20	57829420	57829420	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccttcatctggacaaagAatttcagattcggttccact	7	10	3	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:57829420A>C	uc002yan.2	+	5	4656	c.4656A>C	c.(4654-4656)AGA>AGC	p.R1552S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1552						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTGGACAAAGAATTTCAGATT	0.498													C	57829420	A	C	57829420	3	2	202	1	0	0	0	0	1	0	0	0	18182	243	9	5	4674	5	ZNF831	20	57829420	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	11575197	57829420	5196100	160	111195											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812843	31812843	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgccagacatcctgcacTttggccagatcctatcagac	8	14	1	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr21:31812843T>G	uc002yod.2	+	1	198	c.198T>G	c.(196-198)ACT>ACG	p.T66T		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	66						intermediate filament					0						CATCCTGCACTTTGGCCAGAT	0.502													G	31812843	T	G	31812843	2	3	202	1	0	0	0	0	0	0	0	1	8526	1596	56	5		5	KRTAP15-1	21	31812843	Silent	SNP	T	TCGA-D7-5579-01A-01D-1600-08		31812843	16317052	161	111196											
CCT8L2	150160	broad.mit.edu	37	chr22	17072656	17072656	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagctagatcagcaggactaGaaagacgggccgttgctggt	15	8	1	3			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:17072656G>T	uc002zlp.1	-	1	1045	c.785C>A	c.(784-786)TCT>TAT	p.S262Y		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	262					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	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)				AGCAGGACTAGAAAGACGGGC	0.507													T	17072656	G	T	17072656	3	4	202	1	0	0	0	0	1	0	0	0	2961	942	33	5	892	5	CCT8L2	22	17072656	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08		17072656	34231910	162	111197											
ZNF74	7625	broad.mit.edu	37	chr22	20759891	20759891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccctcttcgcccagcaaCgcgttcccgaggggggaccc	12	18	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:20759891C>T	uc010gsm.2	+	6	780	c.568C>T	c.(568-570)CGC>TGC	p.R190C	ZNF74_uc002zsg.2_Missense_Mutation_p.R119C|ZNF74_uc002zsh.2_Missense_Mutation_p.R190C|ZNF74_uc002zsi.2_Missense_Mutation_p.R119C|ZNF74_uc010gsn.2_Missense_Mutation_p.R119C	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	190					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			CGCCCAGCAACGCGTTCCCGA	0.667													T	20759891	C	T	20759891	3	4	202	1	0	0	0	0	1	0	0	0	18124	536	19	1	586	1	ZNF74	22	20759891	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	3687235	20759891	30544675	163	111198											
RTDR1	27156	broad.mit.edu	37	chr22	23401693	23401693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgcccgctgtaaggCttcggccacttgaggctttt	13	13	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:23401693C>A	uc002zwt.2	-	7	1152	c.994G>T	c.(994-996)GCC>TCC	p.A332S		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	332							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CGCTGTAAGGCTTCGGCCACT	0.577													A	23401693	C	A	23401693	3	1	202	1	0	0	0	0	1	0	0	0	13719	797	28	5	56	5	RTDR1	22	23401693	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	2641802	23401693	27902873	164	111199											
VPREB3	29802	broad.mit.edu	37	chr22	24095278	24095278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggtaccaggacacacCgtagtccctgatggtgacgt	12	12	0	2	rs143409128	by1000genomes	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:24095278C>T	uc002zxt.2	-	2	237	c.157G>A	c.(157-159)GGT>AGT	p.G53S	ZNF70_uc002zxs.2_5'Flank	NM_013378	NP_037510	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3 precursor	53	Ig-like.					endoplasmic reticulum					0		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				CAGGACACACCGTAGTCCCTG	0.637													T	24095278	C	T	24095278	3	4	202	1	0	0	0	0	1	0	0	0	17184	652	23	1	218	1	VPREB3	22	24095278	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	693585	24095278	27209288	165	111200											
SMARCB1	6598	broad.mit.edu	37	chr22	24135870	24135870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacagagccccccacctaCctcaggtaatgcgttcctgg	9	16	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:24135870C>T	uc002zyb.2	+	3	564	c.357C>T	c.(355-357)TAC>TAT	p.Y119Y	SMARCB1_uc002zyg.2_Silent_p.Y119Y|SMARCB1_uc011ajb.1_Silent_p.Y110Y|SMARCB1_uc002zya.2_Silent_p.Y119Y|SMARCB1_uc002zyc.2_Silent_p.Y110Y|SMARCB1_uc002zyd.2_Silent_p.Y110Y|SMARCB1_uc002zye.1_Silent_p.Y82Y|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	119	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.Y119fs*1(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCCCCACCTACCTCAGGTAAT	0.512			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				T	24135870	C	T	24135870	2	4	202	1	0	0	0	0	0	0	0	1	14774	518	18	4		4	SMARCB1	22	24135870	Silent	SNP	C	TCGA-D7-5579-01A-01D-1600-08	40592	24135870	27168696	166	111201											
NAGA	4668	broad.mit.edu	37	chr22	42458845	42458845	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtaccttgtgaatcctgcGtccctggatgcctaagggat	11	10	0	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:42458845G>T	uc003bbx.2	-	8	1080	c.943C>A	c.(943-945)CGC>AGC	p.R315S	NAGA_uc003bby.2_Missense_Mutation_p.R315S|NAGA_uc003bbw.3_Missense_Mutation_p.R315S	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	315					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)	1						TGAATCCTGCGTCCCTGGATG	0.557													T	42458845	G	T	42458845	3	4	202	1	0	0	0	0	1	0	0	0	10141	1145	40	5	304	5	NAGA	22	42458845	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08	18322975	42458845	8845721	167	111202											
RPS6KA6	27330	broad.mit.edu	37	chrX	83357064	83357064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggtgcaacaaagtttGcagtgtagcatggagttaag	12	7	1	0			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:83357064G>T	uc004eej.1	-	18	1834	c.1757C>A	c.(1756-1758)GCA>GAA	p.A586E	RPS6KA6_uc011mqt.1_Missense_Mutation_p.A586E|RPS6KA6_uc011mqu.1_Missense_Mutation_p.A483E	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	586	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						AACAAAGTTTGCAGTGTAGCA	0.373													T	83357064	G	T	83357064	3	4	202	1	0	0	0	0	1	0	0	0	13655	1319	46	5	500	5	RPS6KA6	23	83357064	Missense_Mutation	SNP	G	TCGA-D7-5579-01A-01D-1600-08		83357064	71913496	168	111203											
IL13RA2	3598	broad.mit.edu	37	chrX	114239848	114239848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaaatggtagccagaaaCgtagcaaagttttcttcgat	8	8	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:114239848C>T	uc004epx.2	-	9	1153	c.1028G>A	c.(1027-1029)CGT>CAT	p.R343H	IL13RA2_uc010nqd.1_Missense_Mutation_p.R343H	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	343	Extracellular (Potential).					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						TAGCCAGAAACGTAGCAAAGT	0.358													T	114239848	C	T	114239848	3	4	202	1	0	0	0	0	1	0	0	0	7630	536	19	1	122	1	IL13RA2	23	114239848	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	30882784	114239848	41030712	169	111204											
TFDP3	51270	broad.mit.edu	37	chrX	132351941	132351941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtctcccagaccttcAtggaaagacggcacaggccc	10	16	2	2			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:132351941A>G	uc004exb.1	-	1	436	c.347T>C	c.(346-348)ATG>ACG	p.M116T		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	116	Potential.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CCAGACCTTCATGGAAAGACG	0.587													G	132351941	A	G	132351941	3	3	202	1	0	0	0	0	1	0	0	0	15796	217	8	3	874	3	TFDP3	23	132351941	Missense_Mutation	SNP	A	TCGA-D7-5579-01A-01D-1600-08	18112093	132351941	22918619	170	111205											
UBE2NL	389898	broad.mit.edu	37	chrX	142967341	142967341	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaatcaaaggattccCcctttgagggagggactttt	13	8	1	1			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:142967341C>G	uc004fca.2	+	1	169	c.139C>G	c.(139-141)CCC>GCC	p.P47A		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	47							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGATTCCCCCTTTGAGGG	0.453													G	142967341	C	G	142967341	3	3	202	1	0	0	0	0	1	0	0	0	16864	623	22	5	141	5	UBE2NL	23	142967341	Missense_Mutation	SNP	C	TCGA-D7-5579-01A-01D-1600-08	10615400	142967341	12303219	171	111206											
FMR1	2332	broad.mit.edu	37	chrX	147007109	147007115	+	Frame_Shift_Del	DEL	TGTAGGT	TGTAGGT	-													gatgtcagattcccacctccTgtaggttataataaagatat							TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:147007108_147007114CTGTAGGT>C	uc010nst.3	+	2	384_390	c.155_161CTGTAGGT>C	c.(154-162)cctgtaggtfs	p.P52fs	FMR1_uc011mwz.2_Frame_Shift_Del_p.P52fs|FMR1_uc004fcj.3_Frame_Shift_Del_p.P52fs|FMR1_uc022cgc.1_Frame_Shift_Del_p.P52fs|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Frame_Shift_Del_p.P52fs|FMR1_uc022cge.1_Frame_Shift_Del_p.P52fs|FMR1_uc022cgf.1_Frame_Shift_Del_p.P52fs|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	52					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)					TTCCCACCTCCTGTAGGTTATAATAAA	0.353									Fragile X syndrome				-	147007115	TGTAGGT	-	147007109	7	5	202	1	0	1	0	1	0	0	0	0	5960	1567	55	0	166	0	FMR1	23	147007109	Frame_Shift_Del	DEL	TGTAGGT	TCGA-D7-5579-01A-01D-1600-08	4039768	147007109	8263451	172	111207											
SLC2A7	155184	broad.mit.edu	37	chr1	9082993	9082993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgccgcagctatcaaCcagcaggcccacgagcaatg	9	15	1	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:9082993C>T	uc009vmo.1	-	3	295	c.295G>A	c.(295-297)GTT>ATT	p.V99I		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	99	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)		CAGCTATCAACCAGCAGGCCC	0.512													T	9082993	C	T	9082993	3	4	203	1	0	0	0	0	1	0	0	0	14550	507	18	4	1283	4	SLC2A7	1	9082993	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		9082993	240167628	1	111208											
DFFA	1676	broad.mit.edu	37	chr1	10527274	10527274	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcctctgataggaggatGatgctggacagatcttcttt	10	9	3	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:10527274G>A	uc001arj.2	-	3	512	c.414C>T	c.(412-414)ATC>ATT	p.I138I	DFFA_uc001ark.2_Silent_p.I138I	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	138					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	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;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		ATAGGAGGATGATGCTGGACA	0.537													A	10527274	G	A	10527274	2	1	203	1	0	0	0	0	0	0	0	1	4452	1280	45	4		4	DFFA	1	10527274	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	1444281	10527274	238723347	2	111209											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837237	12837237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcatctctcttggtgccCgagcatccgtcagctaaaag	10	12	3	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:12837237C>T	uc001aui.2	+	3	974	c.947C>T	c.(946-948)CCG>CTG	p.P316L		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	316										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		TCTTGGTGCCCGAGCATCCGT	0.567													T	12837237	C	T	12837237	3	4	203	1	0	0	0	0	1	0	0	0	12428	652	23	1	957	1	PRAMEF12	1	12837237	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	2309963	12837237	236413384	3	111210											
AIM1L	55057	broad.mit.edu	37	chr1	26655305	26655305	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcacctccctgctgagctcGatctccttcccctcgaagca	7	19	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:26655305G>A	uc001bmd.3	-	15	1669	c.1239C>T	c.(1237-1239)ATC>ATT	p.I413I		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	413	Beta/gamma crystallin 'Greek key' 9.						sugar binding			pancreas(1)	1		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)		TGCTGAGCTCGATCTCCTTCC	0.597													A	26655305	G	A	26655305	2	1	203	1	0	0	0	0	0	0	0	1	431	1048	37	1		1	AIM1L	1	26655305	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	13818068	26655305	222595316	4	111211											
CELSR2	1952	broad.mit.edu	37	chr1	109793708	109793708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggtctgggggcagccCctctgaagtctttgagatcg	17	9	3	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:109793708C>T	uc001dxa.3	+	1	1068	c.1007C>T	c.(1006-1008)CCC>CTC	p.P336L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	336	Cadherin 2.|Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		GGGGGCAGCCCCTCTGAAGTC	0.607													T	109793708	C	T	109793708	3	4	203	1	0	0	0	0	1	0	0	0	3222	623	22	4	1009	4	CELSR2	1	109793708	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	83138403	109793708	139456913	5	111212											
TRIM33	51592	broad.mit.edu	37	chr1	114940396	114940396	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaactctggcaaaggtgcGaaggtcctgtctgagtagat	12	8	3	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:114940396G>A	uc001eew.2	-	20	3342	c.3258C>T	c.(3256-3258)TTC>TTT	p.F1086F	TRIM33_uc010owr.1_Silent_p.F700F|TRIM33_uc010ows.1_Silent_p.F718F|TRIM33_uc001eex.2_Silent_p.F1069F	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1086					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			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	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)		GCAAAGGTGCGAAGGTCCTGT	0.468			T	RET	papillary thyroid								A	114940396	G	A	114940396	2	1	203	1	0	0	0	0	0	0	0	1	16504	1049	37	1		1	TRIM33	1	114940396	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	5146688	114940396	134310225	6	111213											
CD1E	913	broad.mit.edu	37	chr1	158325888	158325888	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gggggccatgatctaatcatCcattggggtgagaaacagct	13	8	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:158325888C>G	uc001fse.2	+	4	1136	c.897C>G	c.(895-897)ATC>ATG	p.I299M	CD1E_uc010pid.1_Missense_Mutation_p.I297M|CD1E_uc010pie.1_Missense_Mutation_p.I200M|CD1E_uc010pif.1_Missense_Mutation_p.I110M|CD1E_uc001fsd.2_Intron|CD1E_uc001fsk.2_Missense_Mutation_p.I209M|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Missense_Mutation_p.I110M|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.I299M|CD1E_uc001fry.2_Intron|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Missense_Mutation_p.I110M|CD1E_uc001fsi.2_Intron|CD1E_uc009wsv.2_Missense_Mutation_p.I200M|CD1E_uc001frz.2_Missense_Mutation_p.I209M|CD1E_uc009wsw.2_Missense_Mutation_p.I57M	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	299	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					ATCTAATCATCCATTGGGGTG	0.547													G	158325888	C	G	158325888	3	3	203	1	0	0	0	0	1	0	0	0	2978	845	30	5	911	5	CD1E	1	158325888	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	43385492	158325888	90924733	7	111214											
TNFSF4	7292	broad.mit.edu	37	chr1	173157667	173157667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatacttaccggtaaaTtgtactttgatactttgaat	6	6	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:173157667T>C	uc001giw.2	-	2	351	c.195A>G	c.(193-195)CAA>CAG	p.Q65Q	TNFSF4_uc001giv.2_Silent_p.Q15Q	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	65	Extracellular (Potential).				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			central_nervous_system(1)	1						TACCGGTAAATTGTACTTTGA	0.318													C	173157667	T	C	173157667	2	2	203	1	0	0	0	0	0	0	0	1	16307	1490	52	3		3	TNFSF4	1	173157667	Silent	SNP	T	TCGA-D7-6518-01A-11D-1800-08	14831779	173157667	76092954	8	111215											
CHI3L1	1116	broad.mit.edu	37	chr1	203152776	203152776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgaccagcaccttgattAgggtggtaaaatgctgtttg	11	8	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:203152776A>G	uc001gzi.2	-	5	629	c.458T>C	c.(457-459)CTA>CCA	p.L153P	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.L153P	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	153					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						CACCTTGATTAGGGTGGTAAA	0.587													G	203152776	A	G	203152776	3	3	203	1	0	0	0	0	1	0	0	0	3340	420	15	3	717	3	CHI3L1	1	203152776	Missense_Mutation	SNP	A	TCGA-D7-6518-01A-11D-1800-08	29995109	203152776	46097845	9	111216											
NFASC	23114	broad.mit.edu	37	chr1	204966334	204966334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgactaccgtgggtgcgaCgggcgctgtgagcagtaccg	16	13	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:204966334C>T	uc001hbj.2	+	25	3147	c.2819C>T	c.(2818-2820)ACG>ATG	p.T940M	NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Intron|NFASC_uc001hbn.1_Missense_Mutation_p.T86M|NFASC_uc009xbh.1_Translation_Start_Site	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	997	Extracellular (Potential).|Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GTGGGTGCGACGGGCGCTGTG	0.557													T	204966334	C	T	204966334	3	4	203	1	0	0	0	0	1	0	0	0	10359	536	19	1	3322	1	NFASC	1	204966334	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	1813558	204966334	44284287	10	111217											
MARK1	4139	broad.mit.edu	37	chr1	220824034	220824034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaccacagatcgatacGtagcattgcagaatggaaaa	10	7	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:220824034G>A	uc001hmn.3	+	14	2140	c.1543G>A	c.(1543-1545)GTA>ATA	p.V515I	MARK1_uc009xdw.2_Missense_Mutation_p.V515I|MARK1_uc010pun.1_Missense_Mutation_p.V515I|MARK1_uc001hmm.3_Missense_Mutation_p.V493I	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	515					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		AGATCGATACGTAGCATTGCA	0.408													A	220824034	G	A	220824034	3	1	203	1	0	0	0	0	1	0	0	0	9312	1145	40	1	1597	1	MARK1	1	220824034	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	15857700	220824034	28426587	11	111218											
KIAA1383	54627	broad.mit.edu	37	chr1	232942122	232942122	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctttgtattacactaacttGacccaagaaaaaccgccccc	4	15	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:232942122G>T	uc001hvh.2	+	1	1485	c.1353G>T	c.(1351-1353)TTG>TTT	p.L451F		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	309										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ACACTAACTTGACCCAAGAAA	0.443													T	232942122	G	T	232942122	3	4	203	1	0	0	0	0	1	0	0	0	8228	1281	45	5	1355	5	KIAA1383	1	232942122	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	12118088	232942122	16308499	12	111219											
NID1	4811	broad.mit.edu	37	chr1	236142365	236142365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggggttggaaagcatcCgtctccttggaaattgcaag	13	7	1	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:236142365C>T	uc001hxo.2	-	19	3654	c.3552G>A	c.(3550-3552)ACG>ACA	p.T1184T	NID1_uc009xgd.2_Silent_p.T1051T|NID1_uc009xgc.2_Silent_p.T265T	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1184					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	GGAAAGCATCCGTCTCCTTGG	0.507													T	236142365	C	T	236142365	2	4	203	1	0	0	0	0	0	0	0	1	10414	639	23	1		1	NID1	1	236142365	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	3200243	236142365	13108256	13	111220											
FMN2	56776	broad.mit.edu	37	chr1	240256644	240256644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgtttcaagccctaccCgctcatcaccccctgctaca	6	19	3	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:240256644C>T	uc010pyd.1	+	1	1460	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	FMN2_uc010pye.1_Missense_Mutation_p.P412L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	412					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCCCTACCCGCTCATCACC	0.677													T	240256644	C	T	240256644	3	4	203	1	0	0	0	0	1	0	0	0	5950	652	23	1	1237	1	FMN2	1	240256644	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	4114279	240256644	8993977	14	111221											
OR2L13	284521	broad.mit.edu	37	chr1	248263077	248263077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctctctattatcctatcCgcatgagtaaaatgatgtgt	6	9	2	2	rs147060080		TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr1:248263077C>T	uc001ids.2	+	3	737	c.400C>T	c.(400-402)CGC>TGC	p.R134C		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	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)			TTATCCTATCCGCATGAGTAA	0.488													T	248263077	C	T	248263077	3	4	203	1	0	0	0	0	1	0	0	0	11006	652	23	1	402	1	OR2L13	1	248263077	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	8006433	248263077	987544	15	111222											
PLEK	5341	broad.mit.edu	37	chr2	68613709	68613709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcctcatgattgcttcatCgctgctcaatgaggggtatc	11	10	3	2	rs148824923		TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr2:68613709C>T	uc002sen.3	+	5	710	c.548C>T	c.(547-549)TCG>TTG	p.S183L	PLEK_uc010fde.2_Missense_Mutation_p.S183L	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	183	DEP.				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			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		ATTGCTTCATCGCTGCTCAAT	0.527													T	68613709	C	T	68613709	3	4	203	1	0	0	0	0	1	0	0	0	12053	893	31	1	566	1	PLEK	2	68613709	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		68613709	174585664	16	111223											
ZEB2	9839	broad.mit.edu	37	chr2	145274864	145274864	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtttttcctcctgggattGgcttgtttgcgcctcttgca	10	12	1	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr2:145274864G>T	uc002tvu.2	-	2	534	c.54C>A	c.(52-54)GCC>GCA	p.A18A	ZEB2_uc002tvv.2_Silent_p.A13A|ZEB2_uc010zbm.1_Silent_p.A13A|ZEB2_uc010fnp.2_Silent_p.A13A|ZEB2_uc010fnq.1_Silent_p.A47A|ZEB2_uc002tvw.2_Silent_p.A13A|ZEB2_uc002tvx.1_RNA|ZEB2_uc002tvy.2_Silent_p.A47A|ZEB2_uc002tvz.2_RNA|ZEB2_uc002twa.2_RNA	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	18						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCTGGGATTGGCTTGTTTGC	0.592													T	145274864	G	T	145274864	2	4	203	1	0	0	0	0	0	0	0	1	17621	1335	47	5		5	ZEB2	2	145274864	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	76661155	145274864	97924509	17	111224											
ABCB11	8647	broad.mit.edu	37	chr2	169791908	169791908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaattccagcaacagtgcGgatgttactgagggcttcat	10	10	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr2:169791908G>A	uc002ueo.1	-	23	2968	c.2842C>T	c.(2842-2844)CGC>TGC	p.R948C	ABCB11_uc010zda.1_Missense_Mutation_p.R390C|ABCB11_uc010zdb.1_Missense_Mutation_p.R424C	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	948	Cytoplasmic (Potential).|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			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCAACAGTGCGGATGTTACTG	0.438													A	169791908	G	A	169791908	3	1	203	1	0	0	0	0	1	0	0	0	42	1116	39	1	1147	1	ABCB11	2	169791908	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	24517044	169791908	73407465	18	111225											
SPAG16	79582	broad.mit.edu	37	chr2	214727351	214727351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagactgctgcttccatcccAggtcagtgcacaggacccct	9	16	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr2:214727351A>G	uc002veq.2	+	11	1305	c.1213A>G	c.(1213-1215)AGT>GGT	p.S405G	SPAG16_uc010fuz.1_Missense_Mutation_p.S256G|SPAG16_uc002ver.2_Missense_Mutation_p.S351G|SPAG16_uc010zjk.1_Missense_Mutation_p.S311G	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	405	WD 2.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		CTTCCATCCCAGGTCAGTGCA	0.498													G	214727351	A	G	214727351	3	3	203	1	0	0	0	0	1	0	0	0	14978	202	7	3	1271	3	SPAG16	2	214727351	Missense_Mutation	SNP	A	TCGA-D7-6518-01A-11D-1800-08	44935443	214727351	28472022	19	111226											
CXCR1	3577	broad.mit.edu	37	chr2	219029327	219029327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggtgtgaggcaggatcCgcaacaccatccgccatttt	10	12	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr2:219029327C>T	uc002vhc.2	-	2	727	c.608G>A	c.(607-609)CGG>CAG	p.R203Q		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	203	Helical; Name=5; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						AGGCAGGATCCGCAACACCAT	0.522													T	219029327	C	T	219029327	3	4	203	1	0	0	0	0	1	0	0	0	4090	652	23	1	448	1	CXCR1	2	219029327	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	4301976	219029327	24170046	20	111227											
COL4A4	1286	broad.mit.edu	37	chr2	227875130	227875130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgggctcctggtccGtctgactgtggagaaccagg	17	10	1	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr2:227875130G>A	uc010zlt.1	-	45	5075	c.4421C>T	c.(4420-4422)ACG>ATG	p.T1474M		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1474	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		CTCCTGGTCCGTCTGACTGTG	0.587													A	227875130	G	A	227875130	3	1	203	1	0	0	0	0	1	0	0	0	3693	1145	40	1	663	1	COL4A4	2	227875130	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	8845803	227875130	15324243	21	111228											
HDLBP	3069	broad.mit.edu	37	chr2	242196205	242196205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgttctttgggaatgGcaacagttgctgaggcctat	14	6	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr2:242196205G>A	uc002waz.2	-	6	695	c.467C>T	c.(466-468)GCC>GTC	p.A156V	HDLBP_uc002wba.2_Missense_Mutation_p.A156V|HDLBP_uc002wbb.2_Missense_Mutation_p.A177V|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	156					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		TTTGGGAATGGCAACAGTTGC	0.378													A	242196205	G	A	242196205	3	1	203	1	0	0	0	0	1	0	0	0	7025	1203	42	2	3431	2	HDLBP	2	242196205	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	14321075	242196205	1003168	22	111229											
SETD2	29072	broad.mit.edu	37	chr3	47155459	47155459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttctctgaaaccgtctaTtggaacaataatccccattt	5	10	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr3:47155459T>C	uc003cqs.2	-	5	4675	c.4622A>G	c.(4621-4623)AAT>AGT	p.N1541S	SETD2_uc003cqv.2_Missense_Mutation_p.N1530S	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1541	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		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)		AAACCGTCTATTGGAACAATA	0.398			N|F|S|Mis		clear cell renal carcinoma								C	47155459	T	C	47155459	3	2	203	1	0	0	0	0	1	0	0	0	14131	1493	52	3	3140	3	SETD2	3	47155459	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08		47155459	150866971	23	111230											
LAMB2	3913	broad.mit.edu	37	chr3	49167420	49167420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatcacagcgaccaccGtcttgagaacccatggggtc	12	12	2	1	rs146643686		TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr3:49167420G>A	uc003cwe.2	-	10	1556	c.1257C>T	c.(1255-1257)GAC>GAT	p.D419D	LAMB2_uc003cwf.1_Silent_p.D419D	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	419	Laminin EGF-like 3.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCGACCACCGTCTTGAGAAC	0.562													A	49167420	G	A	49167420	2	1	203	1	0	0	0	0	0	0	0	1	8611	1136	40	1		1	LAMB2	3	49167420	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2011961	49167420	148855010	24	111231											
PARP3	10039	broad.mit.edu	37	chr3	51979157	51979157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcacacttttacaccGtcatcccgcacaacttcggc	5	17	2	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr3:51979157G>A	uc003dby.2	+	6	1149	c.778G>A	c.(778-780)GTC>ATC	p.V260I	PARP3_uc003dbz.2_Missense_Mutation_p.V267I	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	260	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTTTACACCGTCATCCCGCA	0.637													A	51979157	G	A	51979157	3	1	203	1	0	0	0	0	1	0	0	0	11462	1145	40	1	821	1	PARP3	3	51979157	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2811737	51979157	146043273	25	111232											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815403	23815403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgagaaaaggaccttgaaCgagagcgcatcctttggggt	14	8	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr4:23815403C>T	uc003gqs.2	-	8	1823	c.1703G>A	c.(1702-1704)CGT>CAT	p.R568H	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	568	Arg/Ser-rich.				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			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GGACCTTGAACGAGAGCGCAT	0.453													T	23815403	C	T	23815403	3	4	203	1	0	0	0	0	1	0	0	0	12300	536	19	1	717	1	PPARGC1A	4	23815403	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		23815403	167338873	26	111233											
CORIN	10699	broad.mit.edu	37	chr4	47746513	47746513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagcatctgaggaaatcCggccaggagtaattcaccat	12	9	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr4:47746513C>T	uc003gxm.2	-	5	798	c.705G>A	c.(703-705)CCG>CCA	p.P235P	CORIN_uc011bzf.1_Silent_p.P96P|CORIN_uc011bzg.1_Silent_p.P168P|CORIN_uc011bzh.1_Silent_p.P235P|CORIN_uc011bzi.1_Silent_p.P235P|CORIN_uc003gxn.3_Silent_p.P235P	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	235	Extracellular (Potential).|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			ovary(1)|central_nervous_system(1)	2						TGAGGAAATCCGGCCAGGAGT	0.463													T	47746513	C	T	47746513	2	4	203	1	0	0	0	0	0	0	0	1	3752	639	23	1		1	CORIN	4	47746513	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	23931110	47746513	143407763	27	111234											
UGT2A1	10941	broad.mit.edu	37	chr4	70455255	70455255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggctgcaacccgaagGtgcttggctcctttgtggcg	14	11	1	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr4:70455255G>C	uc003hem.3	-	6	1482	c.1419C>G	c.(1417-1419)CAC>CAG	p.H473Q	UGT2A1_uc011caq.1_Missense_Mutation_p.H639Q|UGT2A1_uc010ihu.2_Missense_Mutation_p.H473Q|UGT2A1_uc010iht.2_Missense_Mutation_p.H429Q|UGT2A1_uc010ihs.2_Missense_Mutation_p.H474Q	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	473	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						CAACCCGAAGGTGCTTGGCTC	0.488													C	70455255	G	C	70455255	3	2	203	1	0	0	0	0	1	0	0	0	16950	1252	44	5	168	5	UGT2A1	4	70455255	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	22708742	70455255	120699021	28	111235											
EREG	2069	broad.mit.edu	37	chr4	75246757	75246757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagacaatccacgtgtgGctcaagtgtcaataacaaag	9	9	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr4:75246757G>T	uc003hie.1	+	3	347	c.181G>T	c.(181-183)GCT>TCT	p.A61S	EREG_uc003hid.2_Missense_Mutation_p.A55S	NM_001432	NP_001423	O14944	EREG_HUMAN	epiregulin preproprotein	61	Extracellular (Potential).				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)|skin(1)	2			Lung(101;0.196)			TCCACGTGTGGCTCAAGTGTC	0.398													T	75246757	G	T	75246757	3	4	203	1	0	0	0	0	1	0	0	0	5220	1203	42	5	191	5	EREG	4	75246757	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	4791502	75246757	115907519	29	111236											
TRIML1	339976	broad.mit.edu	37	chr4	189068387	189068387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatatagcattctacaacgGgacggatgaatccctcatct	7	11	3	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr4:189068387G>A	uc003izm.1	+	6	1383	c.1268G>A	c.(1267-1269)GGG>GAG	p.G423E	TRIML1_uc003izn.1_Missense_Mutation_p.G147E	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	423	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		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)		TTCTACAACGGGACGGATGAA	0.517													A	189068387	G	A	189068387	3	1	203	1	0	0	0	0	1	0	0	0	16547	1232	43	4	1290	4	TRIML1	4	189068387	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	113821630	189068387	2085889	30	111237											
EMB	133418	broad.mit.edu	37	chr5	49699147	49699147	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccacaagctcaatgtgttCttcactctcgcctaattgga	6	13	4	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr5:49699147C>A	uc003jom.2	-	6	991	c.742G>T	c.(742-744)GAA>TAA	p.E248*	EMB_uc010ivq.2_Nonsense_Mutation_p.E42*|EMB_uc003jol.2_Nonsense_Mutation_p.E179*|EMB_uc011cpy.1_Nonsense_Mutation_p.E198*|EMB_uc010ivr.2_Nonsense_Mutation_p.E194*	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	248	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TCAATGTGTTCTTCACTCTCG	0.438													A	49699147	C	A	49699147	4	1	203	1	0	0	0	0	0	1	0	0	5085	922	32	5	257	5	EMB	5	49699147	Nonsense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		49699147	131216113	31	111238											
ANKRD55	79722	broad.mit.edu	37	chr5	55407441	55407441	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggtggtgatgatgtcattGacttctgaggtgtcctcctc	12	8	2	4			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr5:55407441G>T	uc003jqu.2	-	10	1286	c.1134C>A	c.(1132-1134)GTC>GTA	p.V378V	ANKRD55_uc003jqt.2_Silent_p.V90V	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	377										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGATGTCATTGACTTCTGAGG	0.468													T	55407441	G	T	55407441	2	4	203	1	0	0	0	0	0	0	0	1	681	1277	45	5		5	ANKRD55	5	55407441	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	5708294	55407441	125507819	32	111239											
NLN	57486	broad.mit.edu	37	chr5	65088312	65088312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatcatgcggcctgcttcGgtctccagcctggctgcctt	10	15	2	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr5:65088312G>A	uc003juf.2	+	9	1473	c.1357G>A	c.(1357-1359)GGT>AGT	p.G453S	NLN_uc003jue.2_Missense_Mutation_p.G453S|NLN_uc003jug.2_Missense_Mutation_p.G282S|NLN_uc010iww.2_Missense_Mutation_p.G148S	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	453					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		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)		GGCCTGCTTCGGTCTCCAGCC	0.562													A	65088312	G	A	65088312	3	1	203	1	0	0	0	0	1	0	0	0	10467	1116	39	1	1391	1	NLN	5	65088312	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	9680871	65088312	115826948	33	111240											
IRF1	3659	broad.mit.edu	37	chr5	131822042	131822042	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagtcggggagagtgcTgctgacagcacatggcgaca	16	10	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr5:131822042T>A	uc003kxa.2	-	7	802	c.568A>T	c.(568-570)AGC>TGC	p.S190C	C5orf56_uc010jds.1_Missense_Mutation_p.L68Q|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.S190C|IRF1_uc010jdt.1_Missense_Mutation_p.S190C	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	190					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					0		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)		GGGAGAGTGCTGCTGACAGCA	0.572													A	131822042	T	A	131822042	3	1	203	1	0	0	0	0	1	0	0	0	7827	1580	55	5	425	5	IRF1	5	131822042	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	66733730	131822042	49093218	34	111241											
SEC24A	10802	broad.mit.edu	37	chr5	134044579	134044579	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttggctctccttaaacagGtaagaaaaacagatatagaa	8	6	1	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr5:134044579G>T	uc003kzs.2	+	18	3015	c.2727_splice	c.e18+1	p.Q909_splice	SEC24A_uc011cxu.1_Splice_Site_p.Q673_splice	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A						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				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTAAACAGGTAAGAAAAAC	0.269													T	134044579	G	T	134044579	5	4	203	1	0	0	0	0	0	0	1	0	13994	1275	44	5	2798	5	SEC24A	5	134044579	Splice_Site	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2222537	134044579	46870681	35	111242											
SLC35B3	51000	broad.mit.edu	37	chr6	8430176	8430176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtaagtttgttaaacttgCtgagattcatgccaagtacc	9	7	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr6:8430176C>A	uc010joe.2	-	3	384	c.218G>T	c.(217-219)AGC>ATC	p.S73I	SLC35B3_uc003mya.2_Missense_Mutation_p.S41I|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Missense_Mutation_p.S73I|SLC35B3_uc011did.1_Missense_Mutation_p.S73I|SLC35B3_uc003myd.2_RNA|SLC35B3_uc010jof.2_Missense_Mutation_p.S41I|SLC35B3_uc011die.1_Missense_Mutation_p.S73I	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	73					transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					GTTAAACTTGCTGAGATTCAT	0.348													A	8430176	C	A	8430176	3	1	203	1	0	0	0	0	1	0	0	0	14577	797	28	5	1023	5	SLC35B3	6	8430176	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		8430176	162684891	36	111243											
OR5V1	81696	broad.mit.edu	37	chr6	29323192	29323192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtaagttgagatgggccGtacatatgtaaagatggcgc	14	5	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr6:29323192G>A	uc011dlo.1	-	1	863	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261Q(1)		ovary(3)|kidney(1)	4						GAGATGGGCCGTACATATGTA	0.438													A	29323192	G	A	29323192	3	1	203	1	0	0	0	0	1	0	0	0	11184	1144	40	1	187	1	OR5V1	6	29323192	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	20893016	29323192	141791875	37	111244											
LY6G6C	80740	broad.mit.edu	37	chr6	31686897	31686897	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagccagaggccaagGccagccaaggaggtaaggaa	15	10	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr6:31686897G>C	uc003nwh.2	-	3	408	c.354C>G	c.(352-354)GGC>GGG	p.G118G	LY6G6C_uc010jtd.2_RNA	NM_025261	NP_079537	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex G6C precursor	118						anchored to membrane|plasma membrane					0						AGAGGCCAAGGCCAGCCAAGG	0.607													C	31686897	G	C	31686897	2	2	203	1	0	0	0	0	0	0	0	1	9094	1190	42	5		5	LY6G6C	6	31686897	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2363705	31686897	139428170	38	111245											
GFRAL	389400	broad.mit.edu	37	chr6	55216354	55216354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgcctcagtgtaattcGcagctgccaaaatgatgaat	8	9	1	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr6:55216354G>A	uc003pcm.1	+	5	760	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	225	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTGTAATTCGCAGCTGCCAA	0.428													A	55216354	G	A	55216354	3	1	203	1	0	0	0	0	1	0	0	0	6351	1087	38	1	692	1	GFRAL	6	55216354	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	23529457	55216354	115898713	39	111246											
HIVEP2	3097	broad.mit.edu	37	chr6	143095264	143095264	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggacctgatgtgttttttCagtacactaggtttggcaca	11	7	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr6:143095264C>T	uc003qjd.2	-	5	1355	c.612G>A	c.(610-612)CTG>CTA	p.L204L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	204	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGTGTTTTTTCAGTACACTAG	0.463													T	143095264	C	T	143095264	2	4	203	1	0	0	0	0	0	0	0	1	7187	813	29	4		4	HIVEP2	6	143095264	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	87878910	143095264	28019803	40	111247											
MTHFD1L	25902	broad.mit.edu	37	chr6	151257996	151257996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccatcgggcttgtgcAggctctgaccgcacacctga	11	14	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr6:151257996A>G	uc003qob.2	+	12	1581	c.1313A>G	c.(1312-1314)CAG>CGG	p.Q438R	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.Q439R|MTHFD1L_uc003qoc.2_Missense_Mutation_p.Q386R	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	438	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			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGGCTTGTGCAGGCTCTGACC	0.512													G	151257996	A	G	151257996	3	3	203	1	0	0	0	0	1	0	0	0	9928	188	7	3	1359	3	MTHFD1L	6	151257996	Missense_Mutation	SNP	A	TCGA-D7-6518-01A-11D-1800-08	8162732	151257996	19857071	41	111248											
DLL1	28514	broad.mit.edu	37	chr6	170594221	170594221	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggagtagctgttctcgagAtcctacacgatggagaggtc	13	9	1	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr6:170594221A>T	uc003qxm.2	-	8	1505	c.1035T>A	c.(1033-1035)GAT>GAA	p.D345E		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	345	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				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			lung(4)|ovary(1)	5		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)		TGTTCTCGAGATCCTACACGA	0.557													T	170594221	A	T	170594221	3	4	203	1	0	0	0	0	1	0	0	0	4566	330	12	5	1152	5	DLL1	6	170594221	Missense_Mutation	SNP	A	TCGA-D7-6518-01A-11D-1800-08	19336225	170594221	520846	42	111249											
SDK1	221935	broad.mit.edu	37	chr7	4273010	4273010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggctgtgaatgaggCgggctacggggagcccagca	20	8	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr7:4273010C>T	uc003smx.2	+	41	6090	c.5951C>T	c.(5950-5952)GCG>GTG	p.A1984V	SDK1_uc010kso.2_Missense_Mutation_p.A1240V|SDK1_uc003smy.2_Missense_Mutation_p.A471V|SDK1_uc003smz.2_Missense_Mutation_p.A44V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1984	Fibronectin type-III 13.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GTGAATGAGGCGGGCTACGGG	0.622													T	4273010	C	T	4273010	3	4	203	1	0	0	0	0	1	0	0	0	13968	768	27	1	6113	1	SDK1	7	4273010	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		4273010	154865653	43	111250											
C7orf16	10842	broad.mit.edu	37	chr7	31735216	31735216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatacaccggcgctgcaCatcccacctttcataccagg	7	15	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr7:31735216C>T	uc003tcl.2	+	3	374	c.216C>T	c.(214-216)CAC>CAT	p.H72H	C7orf16_uc011kaf.1_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	72					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3			GBM - Glioblastoma multiforme(11;0.216)			CGGCGCTGCACATCCCACCTT	0.443													T	31735216	C	T	31735216	2	4	203	1	0	0	0	0	0	0	0	1	2378	477	17	4		4	C7orf16	7	31735216	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	27462206	31735216	127403447	44	111251											
LAMB1	3912	broad.mit.edu	37	chr7	107572693	107572693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccatggctttctgccaggCgttgtgtgcaacagtaacca	11	11	1	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr7:107572693C>T	uc003vew.2	-	28	4653	c.4318G>A	c.(4318-4320)GCC>ACC	p.A1440T	LAMB1_uc003vev.2_Missense_Mutation_p.A1464T|LAMB1_uc003veu.2_5'Flank	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1440	Domain I.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGCCAGGCGTTGTGTGCA	0.552													T	107572693	C	T	107572693	3	4	203	1	0	0	0	0	1	0	0	0	8610	768	27	1	1070	1	LAMB1	7	107572693	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	75837477	107572693	51565970	45	111252											
GCC1	79571	broad.mit.edu	37	chr7	127222337	127222337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgccctcctccagcagccGatcctgcagctgatgcacct	8	18	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr7:127222337G>A	uc003vma.2	-	2	2477	c.2059C>T	c.(2059-2061)CGG>TGG	p.R687W		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	687	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						TCCAGCAGCCGATCCTGCAGC	0.592													A	127222337	G	A	127222337	3	1	203	1	0	0	0	0	1	0	0	0	6285	1057	37	1	272	1	GCC1	7	127222337	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	19649644	127222337	31916326	46	111253											
XRCC2	7516	broad.mit.edu	37	chr7	152346034	152346034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttacaagcttctctaagCactgagaacatttcctcaga	5	11	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr7:152346034C>T	uc003wld.2	-	3	622	c.536G>A	c.(535-537)TGC>TAC	p.C179Y		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	179					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CTTCTCTAAGCACTGAGAACA	0.433								Homologous_recombination					T	152346034	C	T	152346034	3	4	203	1	0	0	0	0	1	0	0	0	17450	710	25	2	310	2	XRCC2	7	152346034	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	25123697	152346034	6792629	47	111254											
TMEM215	401498	broad.mit.edu	37	chr9	32784506	32784506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatccggcaaggggagctcaGatgagctggctaagaaggcg	16	8	1	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr9:32784506G>A	uc003zri.3	+	2	690	c.325G>A	c.(325-327)GAT>AAT	p.D109N		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	109						integral to membrane					0						GGGGAGCTCAGATGAGCTGGC	0.617													A	32784506	G	A	32784506	3	1	203	1	0	0	0	0	1	0	0	0	16135	942	33	4	327	4	TMEM215	9	32784506	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08		32784506	108428925	48	111255											
KIAA1045	23349	broad.mit.edu	37	chr9	34976588	34976588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaagcagccaagcggGgggaccgtgacagggccctg	16	14	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr9:34976588G>A	uc003zvq.2	+	5	878	c.700G>A	c.(700-702)GGG>AGG	p.G234R	KIAA1045_uc003zvr.2_Missense_Mutation_p.G234R	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	234							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCCAAGCGGGGGGACCGTGA	0.632													A	34976588	G	A	34976588	3	1	203	1	0	0	0	0	1	0	0	0	8207	1232	43	4	714	4	KIAA1045	9	34976588	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2192082	34976588	106236843	49	111256											
IARS	3376	broad.mit.edu	37	chr9	95004524	95004524	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtaaatatgaactctGtgtggctttcaataacacta	9	6	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr9:95004524G>C	uc004art.1	-	29	3346	c.3089C>G	c.(3088-3090)ACA>AGA	p.T1030R	IARS_uc004ars.1_Missense_Mutation_p.T875R|IARS_uc004aru.3_Missense_Mutation_p.T1030R|IARS_uc010mqr.2_Missense_Mutation_p.T920R|IARS_uc010mqt.2_Missense_Mutation_p.T253R	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	1030					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	TATGAACTCTGTGTGGCTTTC	0.388													C	95004524	G	C	95004524	3	2	203	1	0	0	0	0	1	0	0	0	7473	1377	48	5	723	5	IARS	9	95004524	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	60027936	95004524	46208907	50	111257											
OR1L4	254973	broad.mit.edu	37	chr9	125487043	125487043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgggagtgtcatctatGtctattttaggcctctgtcc	9	9	5	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr9:125487043G>A	uc004bmu.1	+	1	775	c.775G>A	c.(775-777)GTC>ATC	p.V259I		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	259	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTCATCTATGTCTATTTTAG	0.517													A	125487043	G	A	125487043	3	1	203	1	0	0	0	0	1	0	0	0	10965	1377	48	4	777	4	OR1L4	9	125487043	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	30482519	125487043	15726388	51	111258											
DPP7	29952	broad.mit.edu	37	chr9	140006168	140006168	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccaggggtccaggtTcccgttggagaagatgatgt	14	11	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr9:140006168T>A	uc004clh.2	-	11	1276	c.1246A>T	c.(1246-1248)AAC>TAC	p.N416Y		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	416						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGGTCCAGGTTCCCGTTGGAG	0.517													A	140006168	T	A	140006168	3	1	203	1	0	0	0	0	1	0	0	0	4731	1783	62	5	244	5	DPP7	9	140006168	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	14519125	140006168	1207263	52	111259											
CNNM1	26507	broad.mit.edu	37	chr10	101124191	101124191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtaaagtggaggtggaGgttggtaaggaaggccttcg	19	4	0	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr10:101124191G>A	uc001kpp.3	+	5	2335	c.2046G>A	c.(2044-2046)GAG>GAA	p.E682E	CNNM1_uc009xwe.2_Silent_p.E682E|CNNM1_uc010qpi.1_Silent_p.E682E|CNNM1_uc009xwf.2_Silent_p.E682E|CNNM1_uc009xwg.2_Silent_p.E82E	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	682					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGGAGGTGGAGGTTGGTAAGG	0.423													A	101124191	G	A	101124191	2	1	203	1	0	0	0	0	0	0	0	1	3612	991	35	4		4	CNNM1	10	101124191	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08		101124191	34410556	53	111260											
DENND5A	23258	broad.mit.edu	37	chr11	9192306	9192306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtcaatttttgccagaCgcagctcaattgctttctct	7	10	3	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr11:9192306C>T	uc001mhl.2	-	9	2180	c.1925G>A	c.(1924-1926)CGT>CAT	p.R642H	DENND5A_uc001mhk.2_5'UTR|DENND5A_uc010rbw.1_Missense_Mutation_p.R642H|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	642										liver(1)	1						TTTTGCCAGACGCAGCTCAAT	0.318													T	9192306	C	T	9192306	3	4	203	1	0	0	0	0	1	0	0	0	4436	536	19	1	1998	1	DENND5A	11	9192306	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		9192306	125814210	54	111261											
DSCAML1	57453	broad.mit.edu	37	chr11	117307909	117307909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttgcaagccctcatgCgcagctcgtaccacgtggcc	10	16	1	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr11:117307909C>T	uc001prh.1	-	26	4831	c.4829G>A	c.(4828-4830)CGC>CAC	p.R1610H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1550	Extracellular (Potential).|Fibronectin type-III 6.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		AGCCCTCATGCGCAGCTCGTA	0.647													T	117307909	C	T	117307909	3	4	203	1	0	0	0	0	1	0	0	0	4769	768	27	1	1544	1	DSCAML1	11	117307909	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	108115603	117307909	17698607	55	111262											
PDE3A	5139	broad.mit.edu	37	chr12	20769164	20769164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaagtctctttcctagCgcctgagaaggagtttgcct	10	10	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:20769164C>T	uc001reh.1	+	4	1292	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	424					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTTTCCTAGCGCCTGAGAAG	0.428													T	20769164	C	T	20769164	3	4	203	1	0	0	0	0	1	0	0	0	11637	782	27	1	1284	1	PDE3A	12	20769164	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		20769164	113082731	56	111263											
TMTC1	83857	broad.mit.edu	37	chr12	29670442	29670457	+	Frame_Shift_Del	DEL	GTGTTGTAATACAGTG	GTGTTGTAATACAGTG	-													aagcctcttcgtatcggccaGtgttgtaatacagtgctccc					rs112380600		TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:29670441_29670456AGTGTTGTAATACAGTG>A	uc021qwi.1	-	13	2132_2147	c.2073_2088CACTGTATTACAACACT>T	c.(2071-2088)gcactgtattacaacactfs	p.A691fs	TMTC1_uc001riz.3_Frame_Shift_Del_p.A340fs|TMTC1_uc001rja.3_Frame_Shift_Del_p.A427fs|TMTC1_uc001rjb.3_Frame_Shift_Del_p.A583fs|TMTC1_uc001riy.3_Frame_Shift_Del_p.A36fs	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	691						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)					CGTATCGGCCAGTGTTGTAATACAGTGCTCCCAAAG	0.472													-	29670457	GTGTTGTAATACAGTG	-	29670442	7	5	203	1	0	1	0	1	0	0	0	0	16257	1029	36	0	581	0	TMTC1	12	29670442	Frame_Shift_Del	DEL	GTGTTGTAATACAGTG	TCGA-D7-6518-01A-11D-1800-08	8901278	29670442	104181453	57	111264											
LRRK2	120892	broad.mit.edu	37	chr12	40697868	40697868	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagatcagcatcttggacTtgagtgaaaaagcatattta	8	6	3	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:40697868T>G	uc001rmg.3	+	27	3830	c.3709T>G	c.(3709-3711)TTG>GTG	p.L1237V	LRRK2_uc001rmh.1_Missense_Mutation_p.L859V|LRRK2_uc009zjw.2_Missense_Mutation_p.L75V|LRRK2_uc001rmi.2_Missense_Mutation_p.L70V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1237	LRR 10.				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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATCTTGGACTTGAGTGAAAA	0.373													G	40697868	T	G	40697868	3	3	203	1	0	0	0	0	1	0	0	0	9033	1606	56	5	3815	5	LRRK2	12	40697868	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	11027426	40697868	93154027	58	111265											
ZBTB39	9880	broad.mit.edu	37	chr12	57398420	57398420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accccaacattgatcaggtcTgtgaagagttctgaagtgta	10	8	3	4			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:57398420T>C	uc001sml.1	-	2	368	c.282A>G	c.(280-282)ACA>ACG	p.T94T	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	94	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						TGATCAGGTCTGTGAAGAGTT	0.517													C	57398420	T	C	57398420	2	2	203	1	0	0	0	0	0	0	0	1	17537	1567	55	3		3	ZBTB39	12	57398420	Silent	SNP	T	TCGA-D7-6518-01A-11D-1800-08	16700552	57398420	76453475	59	111266											
CAND1	55832	broad.mit.edu	37	chr12	67699937	67699937	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatgtcaagaactcaaggtCtacagattccattcgtctct	7	10	4	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:67699937C>G	uc001stn.2	+	10	2926	c.2489C>G	c.(2488-2490)TCT>TGT	p.S830C	CAND1_uc001sto.2_Missense_Mutation_p.S340C	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	830	HEAT 19.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			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)		AACTCAAGGTCTACAGATTCC	0.413													G	67699937	C	G	67699937	3	3	203	1	0	0	0	0	1	0	0	0	2615	913	32	5	2527	5	CAND1	12	67699937	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	10301517	67699937	66151958	60	111267											
NT5DC3	51559	broad.mit.edu	37	chr12	104192371	104192371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttctcattacctttccGtaaaagtcactcatctgctc	5	13	4	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:104192371G>A	uc010swe.1	-	5	650	c.609C>T	c.(607-609)TAC>TAT	p.Y203Y		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	203							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						TTACCTTTCCGTAAAAGTCAC	0.438													A	104192371	G	A	104192371	2	1	203	1	0	0	0	0	0	0	0	1	10692	1140	40	1		1	NT5DC3	12	104192371	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	36492434	104192371	29659524	61	111268											
RIC8B	55188	broad.mit.edu	37	chr12	107209073	107209073	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggtagacagttggaaggtGcataaagaggtaaggtagag	16	3	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:107209073G>T	uc001tlx.2	+	3	857	c.732G>T	c.(730-732)GTG>GTT	p.V244V	RIC8B_uc001tlw.2_Silent_p.V244V|RIC8B_uc001tly.2_Silent_p.V204V|RIC8B_uc001tlz.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	244					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						GTTGGAAGGTGCATAAAGAGG	0.423													T	107209073	G	T	107209073	2	4	203	1	0	0	0	0	0	0	0	1	13356	1306	46	5		5	RIC8B	12	107209073	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	3016702	107209073	26642822	62	111269											
PRDM4	11108	broad.mit.edu	37	chr12	108134886	108134886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgagcacttccacttcctTtctttgctgtgacttggccc	7	13	1	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:108134886T>G	uc001tmp.2	-	10	2198	c.1761A>C	c.(1759-1761)GAA>GAC	p.E587D	PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	587					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			breast(1)|skin(1)	2						TCCACTTCCTTTCTTTGCTGT	0.493													G	108134886	T	G	108134886	3	3	203	1	0	0	0	0	1	0	0	0	12459	1838	64	5	656	5	PRDM4	12	108134886	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	925813	108134886	25717009	63	111270											
SBNO1	55206	broad.mit.edu	37	chr12	123829886	123829886	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagactattatttttcagtaGatctttaagctgaacttggt	7	5	2	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr12:123829886G>C	uc010tap.1	-	3	469	c.469C>G	c.(469-471)CTA>GTA	p.L157V	SBNO1_uc010tao.1_Missense_Mutation_p.L156V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.L157V|SBNO1_uc001ueu.2_Missense_Mutation_p.L156V|SBNO1_uc001uev.2_Missense_Mutation_p.L155V|SBNO1_uc009zxy.1_Missense_Mutation_p.L122V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	157							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTTTCAGTAGATCTTTAAGC	0.423													C	123829886	G	C	123829886	3	2	203	1	0	0	0	0	1	0	0	0	13862	933	33	5	3828	5	SBNO1	12	123829886	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	15695000	123829886	10022009	64	111271											
ALOX5AP	241	broad.mit.edu	37	chr13	31326239	31326239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgctgtgctctggtctgCggggctactttgcagccaag	13	13	2	0	rs148308449		TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr13:31326239C>T	uc001utf.1	+	3	295	c.221C>T	c.(220-222)GCG>GTG	p.A74V	ALOX5AP_uc010tdr.1_Missense_Mutation_p.A131V	NM_001629	NP_001620	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	74	Helical.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding				0		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		CTCTGGTCTGCGGGGCTACTT	0.463													T	31326239	C	T	31326239	3	4	203	1	0	0	0	0	1	0	0	0	541	768	27	1	231	1	ALOX5AP	13	31326239	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		31326239	83843639	65	111272											
KBTBD6	89890	broad.mit.edu	37	chr13	41705946	41705946	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggcacactgtctgctcactCtccacgtccagactatccaa	6	16	3	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr13:41705946C>G	uc001uxu.1	-	1	991	c.702G>C	c.(700-702)GAG>GAC	p.E234D	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E168D|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	234							protein binding			ovary(1)|skin(1)	2		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)		TCTGCTCACTCTCCACGTCCA	0.597													G	41705946	C	G	41705946	3	3	203	1	0	0	0	0	1	0	0	0	7997	912	32	5	1326	5	KBTBD6	13	41705946	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	10379707	41705946	73463932	66	111273											
EDNRB	1910	broad.mit.edu	37	chr13	78492238	78492238	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctttaccttgtagacattGatagggatgtcaatgacgat	9	8	1	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr13:78492238G>A	uc001vko.2	-	1	729	c.471C>T	c.(469-471)ATC>ATT	p.I157I	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Silent_p.I157I|EDNRB_uc010aez.1_Silent_p.I157I|EDNRB_uc001vkp.1_Silent_p.I240I|EDNRB_uc010afa.1_Silent_p.I157I	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	157	Helical; Name=2; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TGTAGACATTGATAGGGATGT	0.512													A	78492238	G	A	78492238	2	1	203	1	0	0	0	0	0	0	0	1	4920	1280	45	4		4	EDNRB	13	78492238	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	36786292	78492238	36677640	67	111274											
TPP2	7174	broad.mit.edu	37	chr13	103295620	103295620	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcagcaaagtttgttcTacatgcagtccagcttgtga	11	8	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr13:103295620T>G	uc001vpi.3	+	17	2172	c.2069T>G	c.(2068-2070)CTA>CGA	p.L690R		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	690					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGTTTGTTCTACATGCAGTC	0.373													G	103295620	T	G	103295620	3	3	203	1	0	0	0	0	1	0	0	0	16409	1522	53	5	2135	5	TPP2	13	103295620	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	24803382	103295620	11874258	68	111275											
AKAP6	9472	broad.mit.edu	37	chr14	32902831	32902831	+	Frame_Shift_Del	DEL	G	G	-													gagggagaagaggcaatgaaGgacatggactctgaccagca							TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr14:32902830_32902830AG>A	uc001wrq.3	+	1	301	c.131_131AG>A	c.(130-132)aagfs	p.K44fs	AKAP6_uc010aml.3_Frame_Shift_Del_p.K41fs	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	44					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)		GAGGCAATGAAGGACATGGAC	0.542													-	32902831	G	-	32902831	7	5	203	1	0	1	0	1	0	0	0	0	455	991	35	0	134	0	AKAP6	14	32902831	Frame_Shift_Del	DEL	G	TCGA-D7-6518-01A-11D-1800-08		32902831	74446709	69	111276											
MED6	10001	broad.mit.edu	37	chr14	71060070	71060075	+	In_Frame_Del	DEL	GATATA	GATATA	-													tgatagatcactccagcaatGatatagtaatcagctagtgg							TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr14:71060069_71060074TGATATA>T	uc010tth.2	-	3	326_331	c.296_301TATATCA>A	c.(295-303)tatatcatt>tAtt	p.II100del	MED6_uc001xmf.3_In_Frame_Del_p.II100del|MED6_uc010tti.2_In_Frame_Del_p.II100del|MED6_uc001xmg.1_In_Frame_Del_p.II100del|MED6_uc010ttj.2_In_Frame_Del_p.II100del	NM_005466	NP_005457	O75586	MED6_HUMAN	Homo sapiens mediator complex subunit 6 (MED6), mRNA.	100					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		ACTCCAGCAATGATATAGTAATCAGC	0.335													-	71060075	GATATA	-	71060070	7	5	203	1	0	1	0	1	0	0	0	0	9451	1280	45	0	460	0	MED6	14	71060070	In_Frame_Del	DEL	GATATA	TCGA-D7-6518-01A-11D-1800-08	38157239	71060070	36289470	70	111277											
KIAA1409	57578	broad.mit.edu	37	chr14	94053116	94053116	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtataggaaatggctaAgtttgaagagccagacattc	10	5	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr14:94053116A>C	uc001ybv.1	+	19	2446	c.2363A>C	c.(2362-2364)AAG>ACG	p.K788T	KIAA1409_uc001ybs.1_Missense_Mutation_p.K788T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	965						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GAAATGGCTAAGTTTGAAGAG	0.358													C	94053116	A	C	94053116	3	2	203	1	0	0	0	0	1	0	0	0	8230	72	3	5	2437	5	KIAA1409	14	94053116	Missense_Mutation	SNP	A	TCGA-D7-6518-01A-11D-1800-08	22993046	94053116	13296424	71	111278											
CSPG4	1464	broad.mit.edu	37	chr15	75982987	75982987	+	Frame_Shift_Del	DEL	A	A	-													agagcccataggggacctctAggggggctcctgggactgct							TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr15:75982986_75982986TA>T	uc002baw.3	-	2	513	c.420_420TA>A	c.(418-420)ctafs	p.L140fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	140	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|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						AGGGGACCTCTAGGGGGGCTC	0.642													-	75982987	A	-	75982987	7	5	203	1	0	1	0	1	0	0	0	0	3960	420	15	0	6581	0	CSPG4	15	75982987	Frame_Shift_Del	DEL	A	TCGA-D7-6518-01A-11D-1800-08		75982987	26548405	72	111279											
FANCI	55215	broad.mit.edu	37	chr15	89837116	89837116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtgttacaaaaaactcTctgacattcttaatgaaaaa	4	6	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr15:89837116T>G	uc010bnp.1	+	23	2434	c.2344T>G	c.(2344-2346)TCT>GCT	p.S782A	FANCI_uc002bnm.1_Missense_Mutation_p.S782A|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S603A|FANCI_uc002bnq.1_Missense_Mutation_p.S195A	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	782					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAAAAACTCTCTGACATTCT	0.348								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				G	89837116	T	G	89837116	3	3	203	1	0	0	0	0	1	0	0	0	5669	1551	54	5	2430	5	FANCI	15	89837116	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	13854129	89837116	12694276	73	111280											
WDR90	197335	broad.mit.edu	37	chr16	701703	701703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctccagcaaacctgtgCggttcagtgtgtctccagtg	12	12	2	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr16:701703C>T	uc002cii.1	+	8	850	c.796C>T	c.(796-798)CGG>TGG	p.R266W	WDR90_uc002cig.1_Missense_Mutation_p.R266W|WDR90_uc002cih.1_Missense_Mutation_p.R266W|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	266										ovary(1)	1		Hepatocellular(780;0.0218)				CAAACCTGTGCGGTTCAGTGT	0.652													T	701703	C	T	701703	3	4	203	1	0	0	0	0	1	0	0	0	17334	759	27	1	826	1	WDR90	16	701703	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08		701703	89653050	74	111281											
ATP2A1	487	broad.mit.edu	37	chr16	28909608	28909608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcgagttggcaccaccCgggtgccactgacggggccg	16	13	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr16:28909608C>A	uc002dro.1	+	14	1784	c.1600C>A	c.(1600-1602)CGG>AGG	p.R534R	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.R534R|ATP2A1_uc002drp.1_Silent_p.R409R	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	534	Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGCACCACCCGGGTGCCACT	0.632													A	28909608	C	A	28909608	2	1	203	1	0	0	0	0	0	0	0	1	1136	643	23	5		5	ATP2A1	16	28909608	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	28207905	28909608	61445145	75	111282											
PHKG2	5261	broad.mit.edu	37	chr16	30768315	30768315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaccgggcggctcTctttcagcaccggccccctg	12	17	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr16:30768315T>C	uc002dzk.1	+	10	1211	c.1118T>C	c.(1117-1119)CTC>CCC	p.L373P	PHKG2_uc002dzi.1_Missense_Mutation_p.L377P|PHKG2_uc002dzj.1_Missense_Mutation_p.L271P	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	373					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CGGGCGGCTCTCTTTCAGCAC	0.617													C	30768315	T	C	30768315	3	2	203	1	0	0	0	0	1	0	0	0	11847	1551	54	3	1152	3	PHKG2	16	30768315	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	1858707	30768315	59586438	76	111283											
CDH1	999	broad.mit.edu	37	chr16	68845623	68845623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagccacagacgcggAcgatgatgtgaacacctaca	11	12	1	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr16:68845623A>G	uc002ewg.1	+	7	993	c.869A>G	c.(868-870)GAC>GGC	p.D290G	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D290G	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	290	Cadherin 2.|Extracellular (Potential).				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			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		ACAGACGCGGACGATGATGTG	0.493			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				G	68845623	A	G	68845623	3	3	203	1	0	0	0	0	1	0	0	0	3095	275	10	3	895	3	CDH1	16	68845623	Missense_Mutation	SNP	A	TCGA-D7-6518-01A-11D-1800-08	38077308	68845623	21509130	77	111284											
INCA1	388324	broad.mit.edu	37	chr17	4891775	4891775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtgacagtgctgaaCgaggccagagagtgcagctg	16	9	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:4891775C>T	uc002gaj.2	-	8	1088	c.636G>A	c.(634-636)TCG>TCA	p.S212S	CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Silent_p.S212S|INCA1_uc002gal.2_Silent_p.S197S|INCA1_uc002gam.2_Silent_p.S197S	NM_213726	NP_998891	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein	212						nucleus					0						CAGTGCTGAACGAGGCCAGAG	0.567													T	4891775	C	T	4891775	2	4	203	1	0	0	0	0	0	0	0	1	7732	523	19	1		1	INCA1	17	4891775	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08		4891775	76303435	78	111285											
TP53	7157	broad.mit.edu	37	chr17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcatggtgggggcagcGcctcacaacctccgtcatgt	13	14	3	0	rs138729528		TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:7578407G>C	uc002gim.2	-	5	717	c.523C>G	c.(523-525)CGC>GGC	p.R175G	TP53_uc002gig.1_Missense_Mutation_p.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(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*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TGGGGGCAGCGCCTCACAACC	0.657		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			C	7578407	G	C	7578407	3	2	203	1	0	0	0	0	1	0	0	0	16378	1087	38	5	775	5	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2686632	7578407	73616803	79	111286											
MFSD6L	162387	broad.mit.edu	37	chr17	8701689	8701689	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccagaacgccacggacccCaaggagaggataaaagtccg	11	13	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:8701689C>G	uc002glp.1	-	1	898	c.750G>C	c.(748-750)TTG>TTC	p.L250F		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	250	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						CCACGGACCCCAAGGAGAGGA	0.577													G	8701689	C	G	8701689	3	3	203	1	0	0	0	0	1	0	0	0	9536	593	21	5	1014	5	MFSD6L	17	8701689	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	1123282	8701689	72493521	80	111287											
MYH13	8735	broad.mit.edu	37	chr17	10219280	10219280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaactgtgtctgttgctcGtccttggctttgatttcact	8	10	3	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:10219280G>A	uc002gmk.1	-	28	3891	c.3801C>T	c.(3799-3801)GAC>GAT	p.D1267D		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1267	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCTGTTGCTCGTCCTTGGCTT	0.463													A	10219280	G	A	10219280	2	1	203	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10219280	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	1517591	10219280	70975930	81	111288											
ZNF286A	57335	broad.mit.edu	37	chr17	15604534	15604534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagaagtggctgctctgCgcctcacggccagatcccag	14	13	2	2	rs145330416	byFrequency	TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:15604534C>T	uc010cot.2	+	3	502	c.106C>T	c.(106-108)CGC>TGC	p.R36C	ZNF286A_uc002goz.3_5'UTR|ZNF286A_uc010vwa.1_Missense_Mutation_p.R36C|ZNF286A_uc002gpa.2_Missense_Mutation_p.R36C	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGCTGCTCTGCGCCTCACGGC	0.483													T	15604534	C	T	15604534	3	4	203	1	0	0	0	0	1	0	0	0	17820	768	27	1	112	1	ZNF286A	17	15604534	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	5385254	15604534	65590676	82	111289											
UTP6	55813	broad.mit.edu	37	chr17	30190407	30190407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtctgatgcatagcatGtttagctacaaatgcctctg	9	10	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:30190407G>A	uc002hgr.2	-	19	1848	c.1765C>T	c.(1765-1767)CAT>TAT	p.H589Y	UTP6_uc002hgq.2_Missense_Mutation_p.H405Y|UTP6_uc010cst.2_Missense_Mutation_p.H438Y	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	589					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TGCATAGCATGTTTAGCTACA	0.453													A	30190407	G	A	30190407	3	1	203	1	0	0	0	0	1	0	0	0	17099	1377	48	4	32	4	UTP6	17	30190407	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	14585873	30190407	51004803	83	111290											
ACCN1	40	broad.mit.edu	37	chr17	32483077	32483077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcatggcccacacGgtgcaggaactccagcatgc	11	14	2	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:32483077G>A	uc002hhu.2	-	1	749	c.475C>T	c.(475-477)CGT>TGT	p.R159C		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	159	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	TGGCCCACACGGTGCAGGAAC	0.567													A	32483077	G	A	32483077	3	1	203	1	0	0	0	0	1	0	0	0	128	1116	39	1	1815	1	ACCN1	17	32483077	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2292670	32483077	48712133	84	111291											
CDC6	990	broad.mit.edu	37	chr17	38447833	38447833	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgagggaacacatctgTgggaaaaaagctggaagcct	12	7	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:38447833T>A	uc002huj.1	+	4	783	c.573T>A	c.(571-573)TGT>TGA	p.C191*		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	191					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			ovary(2)|breast(1)	3						AACACATCTGTGGGAAAAAAG	0.502													A	38447833	T	A	38447833	4	1	203	1	0	0	0	0	0	1	0	0	3083	1702	59	5	583	5	CDC6	17	38447833	Nonsense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	5964756	38447833	42747377	85	111292											
ANKRD40	91369	broad.mit.edu	37	chr17	48776919	48776919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactggtggctgacaaacagGacccggttttgtgctttctg	12	10	1	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:48776919G>A	uc002iso.2	-	3	874	c.619C>T	c.(619-621)CCT>TCT	p.P207S		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	207	Pro-rich.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGACAAACAGGACCCGGTTTT	0.552													A	48776919	G	A	48776919	3	1	203	1	0	0	0	0	1	0	0	0	669	1174	41	4	499	4	ANKRD40	17	48776919	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	10329086	48776919	32418291	86	111293											
BPTF	2186	broad.mit.edu	37	chr17	65919031	65919031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagaaacgcccaagcaaaCtggccctgttattattgaaa	7	11	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:65919031C>A	uc002jgf.2	+	14	5694	c.5633C>A	c.(5632-5634)ACT>AAT	p.T1878N	BPTF_uc002jge.2_Missense_Mutation_p.T2004N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2004					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			ovary(2)|skin(2)	4	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)			CCCAAGCAAACTGGCCCTGTT	0.463													A	65919031	C	A	65919031	3	1	203	1	0	0	0	0	1	0	0	0	1495	565	20	5	6073	5	BPTF	17	65919031	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	17142112	65919031	15276179	87	111294											
SSTR2	6752	broad.mit.edu	37	chr17	71166520	71166520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggctgaatgagaccacGgagacccagaggaccctcct	11	15	0	4			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr17:71166520G>A	uc002jje.2	+	2	1422	c.1062G>A	c.(1060-1062)ACG>ACA	p.T354T		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	354	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			ATGAGACCACGGAGACCCAGA	0.552													A	71166520	G	A	71166520	2	1	203	1	0	0	0	0	0	0	0	1	15197	1103	39	1		1	SSTR2	17	71166520	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	5247489	71166520	10028690	88	111295											
LAMA1	284217	broad.mit.edu	37	chr18	7080074	7080074	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctatggcatgtgatAttggatggcgttctgttgaa	12	6	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr18:7080074A>T	uc002knm.2	-	3	339	c.245T>A	c.(244-246)ATA>AAA	p.I82K	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	82	Laminin N-terminal.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCATGTGATATTGGATGGCG	0.398													T	7080074	A	T	7080074	3	4	203	1	0	0	0	0	1	0	0	0	8605	449	16	5	9226	5	LAMA1	18	7080074	Missense_Mutation	SNP	A	TCGA-D7-6518-01A-11D-1800-08		7080074	70997174	89	111296											
ROCK1	6093	broad.mit.edu	37	chr18	18625286	18625287	+	In_Frame_Ins	INS	-	-	AAA													catggaatggattgcatccaINSatgcaagaactacttctgca							TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr18:18625285_18625286C>CAAA	uc002kte.3	-	4	1498_1499	c.557_558G>TTTG	c.(556-558)ttg>tTTTG	p.L186F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	186	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	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)					GGATTGCATCCAATGCAAGAAC	0.347													AAA	18625287	-	AAA	18625286	7	5	203	1	0	1	1	0	0	0	0	0	13517	131	5	0	3623	0	ROCK1	18	18625286	In_Frame_Ins	INS	-	TCGA-D7-6518-01A-11D-1800-08	11545212	18625286	59451962	90	111297											
KIAA1012	22878	broad.mit.edu	37	chr18	29435730	29435730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccgtacatttaaagaccGactggtacaaataattgcag	9	9	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr18:29435730G>A	uc002kxc.3	-	21	3593	c.3229C>T	c.(3229-3231)CGG>TGG	p.R1077W	KIAA1012_uc002kxb.3_Missense_Mutation_p.R1023W|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1077					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						TTTAAAGACCGACTGGTACAA	0.353													A	29435730	G	A	29435730	3	1	203	1	0	0	0	0	1	0	0	0	8204	1057	37	1	1114	1	KIAA1012	18	29435730	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	10810444	29435730	48641518	91	111298											
ZNF236	7776	broad.mit.edu	37	chr18	74607109	74607109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcccgcagtgcttccgcGccttcgccgtgaagagcacg	13	15	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr18:74607109G>A	uc002lmi.2	+	10	1750	c.1552G>A	c.(1552-1554)GCC>ACC	p.A518T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	518	C2H2-type 11.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		GTGCTTCCGCGCCTTCGCCGT	0.617													A	74607109	G	A	74607109	3	1	203	1	0	0	0	0	1	0	0	0	17786	1087	38	1	1590	1	ZNF236	18	74607109	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	45171379	74607109	3470139	92	111299											
ATP9B	374868	broad.mit.edu	37	chr18	76936846	76936846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaactgatcaactagatgGtgaaactgactggaagctga	11	7	1	5			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr18:76936846G>A	uc002lmx.2	+	8	826	c.812G>A	c.(811-813)GGT>GAT	p.G271D	ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Missense_Mutation_p.G271D|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Translation_Start_Site	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	271	Cytoplasmic (Potential).				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			ovary(3)	3		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)		CAACTAGATGGTGAAACTGAC	0.453													A	76936846	G	A	76936846	3	1	203	1	0	0	0	0	1	0	0	0	1199	1261	44	4	842	4	ATP9B	18	76936846	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2329737	76936846	1140402	93	111300											
ZNF557	79230	broad.mit.edu	37	chr19	7081985	7081985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaacttgtttcagatgtGgagaatccatttaaagccaa	7	6	1	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:7081985G>A	uc002mgb.2	+	7	812	c.327G>A	c.(325-327)GTG>GTA	p.V109V	ZNF557_uc002mga.2_Silent_p.V116V|ZNF557_uc002mgc.2_Silent_p.V116V	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		TTTCAGATGTGGAGAATCCAT	0.328													A	7081985	G	A	7081985	2	1	203	1	0	0	0	0	0	0	0	1	17985	1335	47	4		4	ZNF557	19	7081985	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08		7081985	52046998	94	111301											
ZNF317	57693	broad.mit.edu	37	chr19	9271728	9271728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacacaggaagatacacacGcaagagagacgctacgaatg	11	10	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:9271728G>A	uc002mku.2	+	7	1682	c.1407G>A	c.(1405-1407)ACG>ACA	p.T469T	ZNF317_uc002mkv.2_Silent_p.T328T|ZNF317_uc002mkw.2_Silent_p.T437T|ZNF317_uc002mkx.2_Silent_p.T384T|ZNF317_uc002mky.2_Silent_p.T352T	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGATACACACGCAAGAGAGAC	0.532													A	9271728	G	A	9271728	2	1	203	1	0	0	0	0	0	0	0	1	17832	1074	38	1		1	ZNF317	19	9271728	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	2189743	9271728	49857255	95	111302											
SLC1A6	6511	broad.mit.edu	37	chr19	15063868	15063868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacactggctgctgtggcCgtgatgctgcagggggaggg	18	10	0	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:15063868C>T	uc002naa.1	-	8	1379	c.1371G>A	c.(1369-1371)ACG>ACA	p.T457T	SLC1A6_uc010dzu.1_Silent_p.T379T|SLC1A6_uc010xod.1_Silent_p.T393T	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	457					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CTGCTGTGGCCGTGATGCTGC	0.363													T	15063868	C	T	15063868	2	4	203	1	0	0	0	0	0	0	0	1	14436	639	23	1		1	SLC1A6	19	15063868	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	5792140	15063868	44065115	96	111303											
ZNF599	148103	broad.mit.edu	37	chr19	35251150	35251150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcatggggtcttttcctgGtccttgagagtcacactcat	10	10	4	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:35251150G>T	uc010edn.1	-	4	944	c.556C>A	c.(556-558)CCA>ACA	p.P186T	ZNF599_uc010edm.1_Missense_Mutation_p.P149T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	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)			TCTTTTCCTGGTCCTTGAGAG	0.473													T	35251150	G	T	35251150	3	4	203	1	0	0	0	0	1	0	0	0	18026	1261	44	5	1214	5	ZNF599	19	35251150	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	20187282	35251150	23877833	97	111304											
HIPK4	147746	broad.mit.edu	37	chr19	40886895	40886895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcactggggctgatgcGttcgtgtgactcccaggtca	15	11	1	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:40886895G>A	uc002onp.2	-	3	1288	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	335	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGGCTGATGCGTTCGTGTGAC	0.652													A	40886895	G	A	40886895	3	1	203	1	0	0	0	0	1	0	0	0	7119	1145	40	1	855	1	HIPK4	19	40886895	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	5635745	40886895	18242088	98	111305											
SCAF1	58506	broad.mit.edu	37	chr19	50149863	50149863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatacctgggttcccagccgCctggacctgcggcctggcga	14	15	0	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:50149863C>T	uc002poq.2	+	5	466	c.342C>T	c.(340-342)CGC>CGT	p.R114R		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	114					mRNA processing|RNA splicing	nucleus	RNA binding				0		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)		TTCCCAGCCGCCTGGACCTGC	0.667													T	50149863	C	T	50149863	2	4	203	1	0	0	0	0	0	0	0	1	13868	726	26	2		2	SCAF1	19	50149863	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	9262968	50149863	8979120	99	111306											
ZNF578	147660	broad.mit.edu	37	chr19	53014862	53014862	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgtggcaaggcttttaatCaacaatcacacctttcacgt	6	10	3	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:53014862C>A	uc002pzp.3	+	6	1472	c.1228C>A	c.(1228-1230)CAA>AAA	p.Q410K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	185	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGCTTTTAATCAACAATCACA	0.383													A	53014862	C	A	53014862	3	1	203	1	0	0	0	0	1	0	0	0	18007	827	29	5	1238	5	ZNF578	19	53014862	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	2864999	53014862	6114121	100	111307											
ZNF600	162966	broad.mit.edu	37	chr19	53268973	53268973	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagtatgttgtttcaggtgtGaatcactcccaaaagtcttg	9	8	3	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:53268973G>C	uc002qab.3	-	3	2322	c.2036C>G	c.(2035-2037)TCA>TGA	p.S679*		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	679	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTTCAGGTGTGAATCACTCCC	0.398													C	53268973	G	C	53268973	4	2	203	1	0	0	0	0	0	1	0	0	18027	1294	45	5	136	5	ZNF600	19	53268973	Nonsense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	254111	53268973	5860010	101	111308											
ZNF582	147948	broad.mit.edu	37	chr19	56901826	56901826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaaccactgccattcTtcttgggagaagactatggc	11	11	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:56901826T>G	uc002qmz.1	-	3	213	c.54A>C	c.(52-54)GAA>GAC	p.E18D	ZNF582_uc002qmy.2_Missense_Mutation_p.E49D	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACTGCCATTCTTCTTGGGAGA	0.478													G	56901826	T	G	56901826	3	3	203	1	0	0	0	0	1	0	0	0	18011	1606	56	5	1511	5	ZNF582	19	56901826	Missense_Mutation	SNP	T	TCGA-D7-6518-01A-11D-1800-08	3632853	56901826	2227157	102	111309											
ZNF416	55659	broad.mit.edu	37	chr19	58083815	58083815	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctttctccagtgtgagttCtctggtgcctaacaagttta	9	10	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:58083815C>A	uc002qpf.2	-	4	1628	c.1457G>T	c.(1456-1458)AGA>ATA	p.R486I	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	486	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AGTGTGAGTTCTCTGGTGCCT	0.403													A	58083815	C	A	58083815	3	1	203	1	0	0	0	0	1	0	0	0	17890	913	32	5	331	5	ZNF416	19	58083815	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	1181989	58083815	1045168	103	111310											
ZNF417	147687	broad.mit.edu	37	chr19	58420743	58420743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgactaaaagatttcccGcactcctcacagggataagc	7	12	2	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr19:58420743G>A	uc002qqq.2	-	3	1102	c.903C>T	c.(901-903)TGC>TGT	p.C301C	ZNF417_uc010yhm.1_Silent_p.C258C|ZNF417_uc002qqr.2_Silent_p.C300C	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	301	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AAGATTTCCCGCACTCCTCAC	0.453													A	58420743	G	A	58420743	2	1	203	1	0	0	0	0	0	0	0	1	17891	1079	38	1		1	ZNF417	19	58420743	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08	336928	58420743	708240	104	111311											
TASP1	55617	broad.mit.edu	37	chr20	13415717	13415717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtctgcttattttgggagGagtcaggctcggcagaacat	14	7	2	1			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr20:13415717G>A	uc002woi.2	-	12	1187	c.1070C>T	c.(1069-1071)TCC>TTC	p.S357F	TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.S334F	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	357				S -> F (in Ref. 1; BAA91018).	asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						ATTTTGGGAGGAGTCAGGCTC	0.423													A	13415717	G	A	13415717	3	1	203	1	0	0	0	0	1	0	0	0	15586	1174	41	4	204	4	TASP1	20	13415717	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08		13415717	49609803	105	111312											
DNMT3B	1789	broad.mit.edu	37	chr20	31394056	31394056	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaccaagtcgaactcgatCaaacaggggaaaaaccaact	7	12	1	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr20:31394056C>T	uc002wyc.2	+	22	2664	c.2343C>T	c.(2341-2343)ATC>ATT	p.I781I	DNMT3B_uc002wyd.2_Silent_p.I761I|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Silent_p.I773I|DNMT3B_uc002wyg.2_Intron|DNMT3B_uc010geg.2_Intron|DNMT3B_uc010geh.2_RNA	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	781					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			lung(3)|ovary(2)	5						CGAACTCGATCAAACAGGGGA	0.453													T	31394056	C	T	31394056	2	4	203	1	0	0	0	0	0	0	0	1	4677	816	29	4		4	DNMT3B	20	31394056	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	17978339	31394056	31631464	106	111313											
C20orf152	140894	broad.mit.edu	37	chr20	34563887	34563887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagaaaaagatgcaaagccGagtcacatttgataccatgg	9	8	2	3	rs138922540		TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr20:34563887G>A	uc002xes.1	+	3	362	c.206G>A	c.(205-207)CGA>CAA	p.R69Q	C20orf152_uc002xer.1_Missense_Mutation_p.R69Q|C20orf152_uc010gfp.1_RNA			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	69											0	Breast(12;0.00631)					ATGCAAAGCCGAGTCACATTT	0.448													A	34563887	G	A	34563887	3	1	203	1	0	0	0	0	1	0	0	0	2092	1058	37	1	216	1	C20orf152	20	34563887	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	3169831	34563887	28461633	107	111314											
CTCFL	140690	broad.mit.edu	37	chr20	56098150	56098150	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctttctttgattttttgtaGatttggccttttcagcatct	6	7	4	2	rs139237396	byFrequency	TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr20:56098150G>C	uc010gix.1	-	2	1390	c.728C>G	c.(727-729)TCT>TGT	p.S243C	CTCFL_uc010giw.1_Missense_Mutation_p.S243C|CTCFL_uc002xym.2_Missense_Mutation_p.S243C|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.S243C|CTCFL_uc010gjb.1_Missense_Mutation_p.S243C|CTCFL_uc010gjc.1_Missense_Mutation_p.S243C|CTCFL_uc010gjd.1_Missense_Mutation_p.S243C|CTCFL_uc010gje.2_Missense_Mutation_p.S243C|CTCFL_uc010gjf.2_Missense_Mutation_p.S38C|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.S243C|CTCFL_uc010gji.1_Missense_Mutation_p.S38C|CTCFL_uc010gjj.1_Missense_Mutation_p.S243C|CTCFL_uc010gjk.1_Missense_Mutation_p.S243C|CTCFL_uc010gjl.1_Missense_Mutation_p.S243C	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	243					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			ovary(2)|large_intestine(1)|skin(1)	4	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)			ATTTTTTGTAGATTTGGCCTT	0.403													C	56098150	G	C	56098150	3	2	203	1	0	0	0	0	1	0	0	0	4001	942	33	5	1299	5	CTCFL	20	56098150	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08	21534263	56098150	6927370	108	111315											
RASD2	23551	broad.mit.edu	37	chr22	35947662	35947662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgaagaacaagaccaaGgaggcggcggagctgcccat	14	11	0	3			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chr22:35947662G>T	uc003anx.2	+	3	589	c.384G>T	c.(382-384)AAG>AAT	p.K128N	RASD2_uc003any.2_Missense_Mutation_p.K128N	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	128					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						ACAAGACCAAGGAGGCGGCGG	0.617													T	35947662	G	T	35947662	3	4	203	1	0	0	0	0	1	0	0	0	13067	991	35	5	390	5	RASD2	22	35947662	Missense_Mutation	SNP	G	TCGA-D7-6518-01A-11D-1800-08		35947662	15356904	109	111316											
ZMYM3	9203	broad.mit.edu	37	chrX	70462830	70462830	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttccttactgttggggagGagtgtgggctgccaggtact	16	7	0	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chrX:70462830G>A	uc004dzh.1	-	22	3624	c.3537C>T	c.(3535-3537)CTC>CTT	p.L1179L	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.L1179L|ZMYM3_uc004dzj.1_Silent_p.L1167L	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	1179					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					TGTTGGGGAGGAGTGTGGGCT	0.502													A	70462830	G	A	70462830	2	1	203	1	0	0	0	0	0	0	0	1	17698	1161	41	4		4	ZMYM3	23	70462830	Silent	SNP	G	TCGA-D7-6518-01A-11D-1800-08		70462830	84807730	110	111317											
PABPC5	140886	broad.mit.edu	37	chrX	90690785	90690785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaacttccgctttcccgCggatgcagagtgggccttga	12	11	0	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chrX:90690785C>T	uc004efg.2	+	2	649	c.209C>T	c.(208-210)GCG>GTG	p.A70V	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	70	RRM 1.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						CGCTTTCCCGCGGATGCAGAG	0.527													T	90690785	C	T	90690785	3	4	203	1	0	0	0	0	1	0	0	0	11367	768	27	1	211	1	PABPC5	23	90690785	Missense_Mutation	SNP	C	TCGA-D7-6518-01A-11D-1800-08	20227955	90690785	64579775	111	111318											
PCDH11X	27328	broad.mit.edu	37	chrX	91873417	91873417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgctctatgccacagCccaccactgtcacaggcctc	7	19	3	0			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chrX:91873417C>T	uc004efk.1	+	7	4367	c.3522C>T	c.(3520-3522)AGC>AGT	p.S1174S	PCDH11X_uc004efl.1_Silent_p.S1164S|PCDH11X_uc004efo.1_Silent_p.S1137S|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.S1166S|PCDH11X_uc004efn.1_Silent_p.S1156S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1174	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TATGCCACAGCCCACCACTGT	0.557													T	91873417	C	T	91873417	2	4	203	1	0	0	0	0	0	0	0	1	11508	738	26	2		2	PCDH11X	23	91873417	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	1182632	91873417	63397143	112	111319											
AFF2	2334	broad.mit.edu	37	chrX	148048538	148048538	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtcacctggagatgacgtcCtgggcggctctgccccttct	12	14	3	2			TCGA-D7-6518-01A-11D-1800-08	TCGA-D7-6518-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19406c86-dd55-420c-b6d4-b5ca9d3bfed6	8a32dd74-fa56-4328-917e-37c29e44cb47	g.chrX:148048538C>G	uc004fcp.2	+	14	3611	c.3132C>G	c.(3130-3132)TCC>TCG	p.S1044S	AFF2_uc004fcq.2_Silent_p.S1034S|AFF2_uc004fcr.2_Silent_p.S1005S|AFF2_uc011mxb.1_Silent_p.S1009S|AFF2_uc004fcs.2_Silent_p.S1009S|AFF2_uc011mxc.1_Silent_p.S685S	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1044					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGACGTCCTGGGCGGCTC	0.358													G	148048538	C	G	148048538	2	3	203	1	0	0	0	0	0	0	0	1	357	668	24	5		5	AFF2	23	148048538	Silent	SNP	C	TCGA-D7-6518-01A-11D-1800-08	56175121	148048538	7222022	113	111320											
MATN1	4146	broad.mit.edu	37	chr1	31188944	31188944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacatattccgcacagccGccttgatgtccttcttggtg	10	12	1	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:31188944G>A	uc001brz.2	-	5	1053	c.1019C>T	c.(1018-1020)GCG>GTG	p.A340V	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.A258V	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	340	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		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)		CCGCACAGCCGCCTTGATGTC	0.572													A	31188944	G	A	31188944	3	1	204	1	0	0	0	0	1	0	0	0	9333	1087	38	1	487	1	MATN1	1	31188944	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08		31188944	218061677	1	111321											
HRNR	388697	broad.mit.edu	37	chr1	152192589	152192589	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcactagatccttgtcGttcacccctagatgactgtc	7	14	1	3	rs115929005		TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:152192589G>A	uc001ezt.1	-	3	1592	c.1516C>T	c.(1516-1518)CGA>TGA	p.R506*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	506	5.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTTGTCGTTCACCCCTA	0.557													A	152192589	G	A	152192589	4	1	204	1	0	0	0	0	0	1	0	0	7359	1153	40	1	7040	1	HRNR	1	152192589	Nonsense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	121003645	152192589	97058032	2	111322											
ARHGEF11	9826	broad.mit.edu	37	chr1	156909511	156909511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccgttccccctccagccCtgcaagctgggtgttgtccc	11	17	0	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:156909511C>T	uc001fqo.2	-	36	4845	c.3805G>A	c.(3805-3807)GGG>AGG	p.G1269R	ARHGEF11_uc010phu.1_Missense_Mutation_p.G685R|ARHGEF11_uc001fqn.2_Missense_Mutation_p.G1309R	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1269					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCAGCCCTGCAAGCTGG	0.612													T	156909511	C	T	156909511	3	4	204	1	0	0	0	0	1	0	0	0	896	681	24	4	783	4	ARHGEF11	1	156909511	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	4716922	156909511	92341110	3	111323											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018192	161018192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgccctctttggcacaGtcaacctccagggacgctac	10	14	2	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:161018192G>A	uc001fxl.2	-	12	2965	c.2619C>T	c.(2617-2619)GAC>GAT	p.D873D	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Silent_p.D719D|ARHGAP30_uc009wtx.2_Silent_p.D546D	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	873	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTTTGGCACAGTCAACCTCCA	0.587													A	161018192	G	A	161018192	2	1	204	1	0	0	0	0	0	0	0	1	879	1020	36	4		4	ARHGAP30	1	161018192	Silent	SNP	G	TCGA-D7-6519-01A-11D-1800-08	4108681	161018192	88232429	4	111324											
HMCN1	83872	broad.mit.edu	37	chr1	186057138	186057138	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataaaaatttccacctcaaTgtatatggtgagcatttgcc	7	8	1	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:186057138T>A	uc001grq.1	+	61	9667	c.9438T>A	c.(9436-9438)AAT>AAA	p.N3146K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3146	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCCACCTCAATGTATATGGTG	0.343													A	186057138	T	A	186057138	3	1	204	1	0	0	0	0	1	0	0	0	7220	1461	51	5	9680	5	HMCN1	1	186057138	Missense_Mutation	SNP	T	TCGA-D7-6519-01A-11D-1800-08	25038946	186057138	63193483	5	111325											
CACNA1S	779	broad.mit.edu	37	chr1	201023635	201023635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcagcctgaaattacaaCgttcccgcagcctccaccca	7	17	0	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:201023635C>T	uc001gvv.2	-	29	3891	c.3664G>A	c.(3664-3666)GTT>ATT	p.V1222I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1222	IV.|Extracellular (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAATTACAACGTTCCCGCAG	0.498													T	201023635	C	T	201023635	3	4	204	1	0	0	0	0	1	0	0	0	2547	536	19	1	2021	1	CACNA1S	1	201023635	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	14966497	201023635	48226986	6	111326											
PIK3C2B	5287	broad.mit.edu	37	chr1	204429064	204429064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgaacagaagactcaggGcctgcctgggagttgggggc	17	9	1	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr1:204429064G>C	uc001haw.2	-	9	1987	c.1508C>G	c.(1507-1509)GCC>GGC	p.A503G	PIK3C2B_uc010pqv.1_Missense_Mutation_p.A503G|PIK3C2B_uc001hax.1_Missense_Mutation_p.A503G|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	503					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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			AAGACTCAGGGCCTGCCTGGG	0.577													C	204429064	G	C	204429064	3	2	204	1	0	0	0	0	1	0	0	0	11910	1203	42	5	3500	5	PIK3C2B	1	204429064	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	3405429	204429064	44821557	7	111327											
TTC21B	79809	broad.mit.edu	37	chr2	166802093	166802093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattcccttgctttatcatGgcgaccaatgtgccataaaa	6	10	1	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr2:166802093G>A	uc002udk.2	-	4	503	c.370C>T	c.(370-372)CAT>TAT	p.H124Y	TTC21B_uc002udl.2_Missense_Mutation_p.H124Y|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	124	TPR 1.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GCTTTATCATGGCGACCAATG	0.353													A	166802093	G	A	166802093	3	1	204	1	0	0	0	0	1	0	0	0	16685	1348	47	4	3684	4	TTC21B	2	166802093	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08		166802093	76397280	8	111328											
C2orf60	129450	broad.mit.edu	37	chr2	200797977	200797977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttatcatagcattcagatGgaaggtgcttccaaaagata	8	6	2	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr2:200797977G>A	uc002uvi.3	-	8	1027	c.761C>T	c.(760-762)CCA>CTA	p.P254L	C2orf60_uc002uvj.3_Missense_Mutation_p.P91L|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Missense_Mutation_p.P91L	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	254	JmjC.				wybutosine biosynthetic process		iron ion 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|protein homodimerization activity|tRNA binding				0						GCATTCAGATGGAAGGTGCTT	0.378													A	200797977	G	A	200797977	3	1	204	1	0	0	0	0	1	0	0	0	2179	1348	47	4	190	4	C2orf60	2	200797977	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	33995884	200797977	42401396	9	111329											
MDH1B	130752	broad.mit.edu	37	chr2	207619947	207619947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcctgcagagaggcacCctgcttcggaggcagtcctc	13	13	0	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr2:207619947C>T	uc002vbs.2	-	5	751	c.696G>A	c.(694-696)AGG>AGA	p.R232R	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.R232R|MDH1B_uc010fuj.2_Silent_p.R134R|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	232					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGAGAGGCACCCTGCTTCGGA	0.552													T	207619947	C	T	207619947	2	4	204	1	0	0	0	0	0	0	0	1	9409	622	22	4		4	MDH1B	2	207619947	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08	6821970	207619947	35579426	10	111330											
ERC2	26059	broad.mit.edu	37	chr3	56468846	56468846	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caccccttcatgatcactcaGatacatgggtccagacgtag	8	13	3	3			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr3:56468846G>A	uc003dhr.1	-	2	446	c.190C>T	c.(190-192)CTG>TTG	p.L64L		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	64						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGATCACTCAGATACATGGGT	0.512													A	56468846	G	A	56468846	2	1	204	1	0	0	0	0	0	0	0	1	5211	933	33	4		4	ERC2	3	56468846	Silent	SNP	G	TCGA-D7-6519-01A-11D-1800-08		56468846	141553584	11	111331											
CSF1R	1436	broad.mit.edu	37	chr5	149437078	149437078	+	Frame_Shift_Del	DEL	A	A	-													cctcctcaccttgctcagagAaggagtcatttgaagaagtg							TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr5:149437078delA	uc003lrl.2	-	15	2405	c.2210delT	c.(2209-2211)TTCfs	p.F737fs	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Frame_Shift_Del_p.F737fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	737	Protein kinase.|Cytoplasmic (Potential).				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			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGCTCAGAGAAGGAGTCATT	0.577													-	149437078	A	-	149437078	7	5	204	1	0	1	0	1	0	0	0	0	3932	246	9	0	736	0	CSF1R	5	149437078	Frame_Shift_Del	DEL	A	TCGA-D7-6519-01A-11D-1800-08		149437078	31478182	12	111332											
KIF4B	285643	broad.mit.edu	37	chr5	154394974	154394974	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccactcagcatgctctccatCaagctcagatgtctaaggag	8	13	5	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr5:154394974C>A	uc010jih.1	+	1	1715	c.1555C>A	c.(1555-1557)CAA>AAA	p.Q519K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	519	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCTCTCCATCAAGCTCAGAT	0.488													A	154394974	C	A	154394974	3	1	204	1	0	0	0	0	1	0	0	0	8304	827	29	5	1557	5	KIF4B	5	154394974	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	4957896	154394974	26520286	13	111333											
NKX2-5	1482	broad.mit.edu	37	chr5	172661792	172661792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccttggctgggtcggggtCgctgtaggcacgtggataga	18	8	0	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr5:172661792C>T	uc003mcm.1	-	1	471	c.295G>A	c.(295-297)GAC>AAC	p.D99N	NKX2-5_uc011dfe.1_Missense_Mutation_p.D99N|NKX2-5_uc010jjt.1_Missense_Mutation_p.D99N	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	99	Ala/Pro-rich.				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			central_nervous_system(1)	1	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)			GGGTCGGGGTCGCTGTAGGCA	0.657													T	172661792	C	T	172661792	3	4	204	1	0	0	0	0	1	0	0	0	10453	884	31	1	822	1	NKX2-5	5	172661792	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	18266818	172661792	8253468	14	111334											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225435	26225435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcggtaaagcaccgcGcaaacagctggccactaagg	12	13	0	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:26225435G>T	uc003nhb.2	+	2	413	c.53G>T	c.(52-54)CGC>CTC	p.R18L	HIST1H3E_uc003nhc.3_Missense_Mutation_p.R18L	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	18					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				AAAGCACCGCGCAAACAGCTG	0.592													T	26225435	G	T	26225435	3	4	204	1	0	0	0	0	1	0	0	0	7159	1087	38	5	55	5	HIST1H3E	6	26225435	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08		26225435	144889632	15	111335											
CCHCR1	54535	broad.mit.edu	37	chr6	31124558	31124558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaacatcccgttcccaCatggtcacttgaggtctctg	9	13	2	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:31124558C>T	uc003nsr.3	-	3	303	c.180G>A	c.(178-180)ATG>ATA	p.M60I	CCHCR1_uc011dne.1_Missense_Mutation_p.M60I|CCHCR1_uc003nsq.3_Missense_Mutation_p.M113I|CCHCR1_uc003nsp.3_Missense_Mutation_p.M149I|CCHCR1_uc010jsk.1_Missense_Mutation_p.M60I|TCF19_uc003nss.2_5'Flank|TCF19_uc003nst.2_5'Flank	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	60					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CCCGTTCCCACATGGTCACTT	0.592													T	31124558	C	T	31124558	3	4	204	1	0	0	0	0	1	0	0	0	2877	478	17	4	2232	4	CCHCR1	6	31124558	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	4899123	31124558	139990509	16	111336											
MYO6	4646	broad.mit.edu	37	chr6	76623819	76623819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagattcctgccaggcagcGggagattgaaatgaaccgac	12	10	1	4			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:76623819G>A	uc003pih.1	+	34	3758	c.3479G>A	c.(3478-3480)CGG>CAG	p.R1160Q	MYO6_uc003pii.1_Missense_Mutation_p.R1137Q|MYO6_uc003pij.1_Missense_Mutation_p.R108Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1169					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			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GCCAGGCAGCGGGAGATTGAA	0.493													A	76623819	G	A	76623819	3	1	204	1	0	0	0	0	1	0	0	0	10081	1116	39	1	3609	1	MYO6	6	76623819	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	45499261	76623819	94491248	17	111337											
CASP8AP2	9994	broad.mit.edu	37	chr6	90576103	90576103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttccaattattgctgtaCcctcttctgaacaagagatc	6	10	2	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr6:90576103C>T	uc003pnr.2	+	8	3290	c.3094C>T	c.(3094-3096)CCC>TCC	p.P1032S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.P1032S|CASP8AP2_uc011dzz.1_Missense_Mutation_p.P1032S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1032					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			ovary(2)	2		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)		TATTGCTGTACCCTCTTCTGA	0.303													T	90576103	C	T	90576103	3	4	204	1	0	0	0	0	1	0	0	0	2678	507	18	4	3120	4	CASP8AP2	6	90576103	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	13952284	90576103	80538964	18	111338											
TXNDC3	51314	broad.mit.edu	37	chr7	37890317	37890317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatgaactgaacgaagacGaaattctgcattttgctgtc	8	7	1	3			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr7:37890317G>A	uc003tfn.2	+	5	550	c.178G>A	c.(178-180)GAA>AAA	p.E60K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	60	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GAACGAAGACGAAATTCTGCA	0.323									Kartagener_syndrome				A	37890317	G	A	37890317	3	1	204	1	0	0	0	0	1	0	0	0	16795	1059	37	1	188	1	TXNDC3	7	37890317	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08		37890317	121248346	19	111339											
GLI3	2737	broad.mit.edu	37	chr7	42005045	42005045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtctgatagcccccagcaGgcccgctcctcaaggggttc	13	15	2	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr7:42005045G>T	uc011kbh.1	-	15	3717	c.3626C>A	c.(3625-3627)CCT>CAT	p.P1209H	GLI3_uc011kbg.1_Missense_Mutation_p.P1150H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1209					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCCCCAGCAGGCCCGCTCCT	0.652									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005045	G	T	42005045	3	4	204	1	0	0	0	0	1	0	0	0	6439	1000	35	5	1120	5	GLI3	7	42005045	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	4114728	42005045	117133618	20	111340											
COG5	10466	broad.mit.edu	37	chr7	107053002	107053002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgattttccacttcaagtCgggctcttgcaataaaaagt	7	9	2	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr7:107053002C>T	uc003ved.2	-	7	1232	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	COG5_uc003vec.2_Missense_Mutation_p.R236Q|COG5_uc003vee.2_Missense_Mutation_p.R236Q	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	236					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CACTTCAAGTCGGGCTCTTGC	0.323													T	107053002	C	T	107053002	3	4	204	1	0	0	0	0	1	0	0	0	3661	884	31	1	1943	1	COG5	7	107053002	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	65047957	107053002	52085661	21	111341											
PREX2	80243	broad.mit.edu	37	chr8	69002905	69002905	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagagacacatgccagtgtCattgcacacgttacagcctg	9	11	1	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr8:69002905C>T	uc003xxv.1	+	20	2232	c.2205C>T	c.(2203-2205)GTC>GTT	p.V735V	PREX2_uc003xxu.1_Silent_p.V735V|PREX2_uc011lez.1_Silent_p.V670V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	735	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			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATGCCAGTGTCATTGCACACG	0.473													T	69002905	C	T	69002905	2	4	204	1	0	0	0	0	0	0	0	1	12477	813	29	4		4	PREX2	8	69002905	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08		69002905	77361117	22	111342											
CNBD1	168975	broad.mit.edu	37	chr8	87917328	87917328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggagtatgagcaatatcTtatcagctcacgatacattt	8	9	3	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr8:87917328T>G	uc003ydy.2	+	3	226	c.178T>G	c.(178-180)TTA>GTA	p.L60V		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	60										ovary(3)	3						GAGCAATATCTTATCAGCTCA	0.338													G	87917328	T	G	87917328	3	3	204	1	0	0	0	0	1	0	0	0	3591	1606	56	5	188	5	CNBD1	8	87917328	Missense_Mutation	SNP	T	TCGA-D7-6519-01A-11D-1800-08	18914423	87917328	58446694	23	111343											
TMEM8B	51754	broad.mit.edu	37	chr9	35853551	35853551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacccacccacgtggcgccGctggcttttctacttgtgcc	9	17	1	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr9:35853551G>A	uc003zym.2	+	14	2148	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	TMEM8B_uc003zyo.2_Missense_Mutation_p.R378H	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	378	Cytoplasmic (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						ACGTGGCGCCGCTGGCTTTTC	0.597													A	35853551	G	A	35853551	3	1	204	1	0	0	0	0	1	0	0	0	16212	1087	38	1	1361	1	TMEM8B	9	35853551	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08		35853551	105359880	24	111344											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431066	37431066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcagcaaaaggaagacCtaggaagatcgcatgggaga	16	6	0	3			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:37431066C>A	uc001iza.1	+	7	1172	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAAGGAAGACCTAGGAAGATC	0.403													A	37431066	C	A	37431066	3	1	204	1	0	0	0	0	1	0	0	0	658	681	24	5	1099	5	ANKRD30A	10	37431066	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08		37431066	98103681	25	111345											
USP54	159195	broad.mit.edu	37	chr10	75290191	75290194	+	Frame_Shift_Del	DEL	CTGA	CTGA	-													gtctgttatggatcatattgCtgactgtctctttaaaatct							TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:75290191_75290194delCTGA	uc001juo.2	-	12	1552_1555	c.1535_1538delTCAG	c.(1534-1539)GTCAGCfs	p.V512fs	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Frame_Shift_Del_p.V512fs|USP54_uc010qkl.1_Frame_Shift_Del_p.V512fs	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	512_513					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GATCATATTGCTGACTGTCTCTTT	0.48													-	75290194	CTGA	-	75290191	7	5	204	1	0	1	0	1	0	0	0	0	17082	797	28	0	3560	0	USP54	10	75290191	Frame_Shift_Del	DEL	CTGA	TCGA-D7-6519-01A-11D-1800-08	37859125	75290191	60244556	26	111346											
HECTD2	143279	broad.mit.edu	37	chr10	93170292	93170292	+	Frame_Shift_Del	DEL	A	A	-													ggaaggagtcagagcgcgagAagctgccgcccatcgtatcg							TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:93170292delA	uc001khl.2	+	1	197	c.97delA	c.(97-99)AAGfs	p.K33fs	LOC100188947_uc010qnl.1_Intron|HECTD2_uc001khk.2_Frame_Shift_Del_p.K33fs|HECTD2_uc010qnm.1_Frame_Shift_Del_p.K33fs|HECTD2_uc001khm.2_RNA	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	33					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						AGAGCGCGAGAAGCTGCCGCC	0.736													-	93170292	A	-	93170292	7	5	204	1	0	1	0	1	0	0	0	0	7040	247	9	0	99	0	HECTD2	10	93170292	Frame_Shift_Del	DEL	A	TCGA-D7-6519-01A-11D-1800-08	17880101	93170292	42364455	27	111347											
CHUK	1147	broad.mit.edu	37	chr10	101979084	101979084	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttccttgatcaacatctttGgcatatcccagatcaattat	4	11	3	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr10:101979084G>C	uc001kqp.2	-	6	562	c.507C>G	c.(505-507)GCC>GCG	p.A169A		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	169	Protein kinase.				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			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CAACATCTTTGGCATATCCCA	0.313													C	101979084	G	C	101979084	2	2	204	1	0	0	0	0	0	0	0	1	3416	1335	47	5		5	CHUK	10	101979084	Silent	SNP	G	TCGA-D7-6519-01A-11D-1800-08	8808792	101979084	33555663	28	111348											
OR5W2	390148	broad.mit.edu	37	chr11	55681260	55681260	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattttatcttgatctagagAataggaagaacttggccgga	10	6	2	3			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:55681260A>T	uc010rir.1	-	1	799	c.799T>A	c.(799-801)TCT>ACT	p.S267T		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGATCTAGAGAATAGGAAGAA	0.438													T	55681260	A	T	55681260	3	4	204	1	0	0	0	0	1	0	0	0	11185	246	9	5	135	5	OR5W2	11	55681260	Missense_Mutation	SNP	A	TCGA-D7-6519-01A-11D-1800-08		55681260	79325256	29	111349											
OR5M1	390168	broad.mit.edu	37	chr11	56380308	56380308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacggatcctgaagatcGctgcaaaaatgaaaagatag	10	7	0	5			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:56380308G>A	uc001nja.1	-	1	671	c.671C>T	c.(670-672)GCG>GTG	p.A224V		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CCTGAAGATCGCTGCAAAAAT	0.443													A	56380308	G	A	56380308	3	1	204	1	0	0	0	0	1	0	0	0	11172	1087	38	1	280	1	OR5M1	11	56380308	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	699048	56380308	78626208	30	111350											
ZP1	22917	broad.mit.edu	37	chr11	60641001	60641001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgctcccagtgccaaccCcttccagcagccccagtggc	11	19	0	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:60641001C>A	uc001nqd.2	+	8	1414	c.1394C>A	c.(1393-1395)CCC>CAC	p.P465H	ZP1_uc001nqe.2_Missense_Mutation_p.P172H	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	465	Extracellular (Potential).|ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						AGTGCCAACCCCTTCCAGCAG	0.637													A	60641001	C	A	60641001	3	1	204	1	0	0	0	0	1	0	0	0	18212	623	22	5	1424	5	ZP1	11	60641001	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	4260693	60641001	74365515	31	111351											
NRXN2	9379	broad.mit.edu	37	chr11	64375009	64375009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccgggggctgaggtcaCgccggggcgcaggggagggg	24	9	1	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:64375009C>T	uc001oap.2	-	8	2171	c.1660G>A	c.(1660-1662)GTG>ATG	p.V554M	NRXN2_uc001oar.2_Missense_Mutation_p.V1600M|NRXN2_uc001oas.2_Missense_Mutation_p.V1530M|NRXN2_uc001oao.2_Missense_Mutation_p.V240M|NRXN2_uc001oaq.2_Missense_Mutation_p.V1267M	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	554	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GCTGAGGTCACGCCGGGGCGC	0.756													T	64375009	C	T	64375009	3	4	204	1	0	0	0	0	1	0	0	0	10666	536	19	1	344	1	NRXN2	11	64375009	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	3734008	64375009	70631507	32	111352											
CNTN5	53942	broad.mit.edu	37	chr11	99872816	99872816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtccattttcctttcacgGttacagctgctaaaggaaca	8	10	1	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr11:99872816G>T	uc001pga.2	+	9	1267	c.928G>T	c.(928-930)GTT>TTT	p.V310F	CNTN5_uc009ywv.1_Missense_Mutation_p.V310F|CNTN5_uc001pfz.2_Missense_Mutation_p.V310F|CNTN5_uc001pgb.2_Missense_Mutation_p.V236F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	310	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		TCCTTTCACGGTTACAGCTGC	0.333													T	99872816	G	T	99872816	3	4	204	1	0	0	0	0	1	0	0	0	3644	1261	44	5	954	5	CNTN5	11	99872816	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	35497807	99872816	35133700	33	111353											
PIWIL1	9271	broad.mit.edu	37	chr12	130841471	130841471	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actctcttctagtttgattaCaatccacaatttgcagattg	5	9	2	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr12:130841471C>A	uc001uik.2	+	13	1503	c.1413C>A	c.(1411-1413)TAC>TAA	p.Y471*	PIWIL1_uc001uij.1_Nonsense_Mutation_p.Y471*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	471					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	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)		AGTTTGATTACAATCCACAAT	0.363													A	130841471	C	A	130841471	4	1	204	1	0	0	0	0	0	1	0	0	11957	489	17	5	1459	5	PIWIL1	12	130841471	Nonsense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08		130841471	3010424	34	111354											
DACH1	1602	broad.mit.edu	37	chr13	72440210	72440210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccagccgcttcagcttgGtgtagaccgtatgcaagccc	10	14	2	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr13:72440210G>T	uc010thn.1	-	2	1115	c.692C>A	c.(691-693)ACC>AAC	p.T231N	DACH1_uc010tho.1_Missense_Mutation_p.T231N|DACH1_uc010thp.1_Missense_Mutation_p.T231N	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	231	Interaction with SIX6 and HDAC3 (By similarity).|DACHbox-N.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCAGCTTGGTGTAGACCGT	0.617													T	72440210	G	T	72440210	3	4	204	1	0	0	0	0	1	0	0	0	4220	1261	44	5	1472	5	DACH1	13	72440210	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08		72440210	42729668	35	111355											
RTN1	6252	broad.mit.edu	37	chr14	60194301	60194301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttctcggcggtttcataCgataatccctttgcttcttt	9	10	3	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr14:60194301C>T	uc001xen.1	-	3	1310	c.1101G>A	c.(1099-1101)TCG>TCA	p.S367S	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	367					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGGTTTCATACGATAATCCCT	0.622													T	60194301	C	T	60194301	2	4	204	1	0	0	0	0	0	0	0	1	13725	523	19	1		1	RTN1	14	60194301	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08		60194301	47155239	36	111356											
HIF1A	3091	broad.mit.edu	37	chr14	62207881	62207881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatccaagaagccctaacGtgttatctgtcgctttgagt	8	11	2	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr14:62207881G>A	uc001xfq.2	+	12	2472	c.2068G>A	c.(2068-2070)GTG>ATG	p.V690M	HIF1A_uc001xfr.2_Missense_Mutation_p.V690M|HIF1A_uc001xfs.2_Missense_Mutation_p.V691M	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	690	ID.				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			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AAGCCCTAACGTGTTATCTGT	0.343													A	62207881	G	A	62207881	3	1	204	1	0	0	0	0	1	0	0	0	7103	1145	40	1	2114	1	HIF1A	14	62207881	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	2013580	62207881	45141659	37	111357											
DUOX1	53905	broad.mit.edu	37	chr15	45444704	45444704	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcattgcctccaccgccatCgtcctcacaggcagggcctg	9	18	2	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr15:45444704C>T	uc001zus.1	+	26	3760	c.3414C>T	c.(3412-3414)ATC>ATT	p.I1138I	DUOX1_uc001zut.1_Silent_p.I1138I|DUOX1_uc010bee.1_Silent_p.I518I|DUOX1_uc001zuu.2_Silent_p.I280I	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1138	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				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			ovary(5)|skin(2)|breast(1)	8		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)		CCACCGCCATCGTCCTCACAG	0.662													T	45444704	C	T	45444704	2	4	204	1	0	0	0	0	0	0	0	1	4800	874	31	1		1	DUOX1	15	45444704	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08		45444704	57086688	38	111358											
NTRK3	4916	broad.mit.edu	37	chr15	88576112	88576112	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccggcttgtggcagttgtGtccctgacggaagtactggg	16	9	0	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr15:88576112G>T	uc002bme.1	-	13	1723	c.1561C>A	c.(1561-1563)CAC>AAC	p.H521N	NTRK3_uc002bmh.2_Missense_Mutation_p.H513N|NTRK3_uc002bmf.1_Missense_Mutation_p.H521N|NTRK3_uc010upl.1_Missense_Mutation_p.H423N|NTRK3_uc010bnh.1_Missense_Mutation_p.H513N|NTRK3_uc002bmg.2_Missense_Mutation_p.H521N|NTRK3_uc010bni.2_RNA	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	521	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGCAGTTGTGTCCCTGACGG	0.587			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			T	88576112	G	T	88576112	3	4	204	1	0	0	0	0	1	0	0	0	10708	1377	48	5	1248	5	NTRK3	15	88576112	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	43131408	88576112	13955280	39	111359											
CLCN7	1186	broad.mit.edu	37	chr16	1510888	1510888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaagcaggccacgaggCccgtgaggatcccaatgagg	14	11	0	3			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:1510888C>T	uc002clv.2	-	5	523	c.413G>A	c.(412-414)GGC>GAC	p.G138D	CLCN7_uc002clw.2_Missense_Mutation_p.G114D	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	138	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GGCCACGAGGCCCGTGAGGAT	0.642													T	1510888	C	T	1510888	3	4	204	1	0	0	0	0	1	0	0	0	3468	739	26	2	2088	2	CLCN7	16	1510888	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08		1510888	88843865	40	111360											
ZNF500	26048	broad.mit.edu	37	chr16	4802555	4802555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcggtgggcgctgaagtgcGagctgttgttgaagcgcttc	18	8	0	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:4802555G>A	uc002cxp.1	-	6	1512	c.1265C>T	c.(1264-1266)TCG>TTG	p.S422L	ZNF500_uc002cxo.1_Missense_Mutation_p.S214L|ZNF500_uc010uxt.1_Missense_Mutation_p.S422L	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	422	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						GCTGAAGTGCGAGCTGTTGTT	0.687													A	4802555	G	A	4802555	3	1	204	1	0	0	0	0	1	0	0	0	17945	1059	37	1	181	1	ZNF500	16	4802555	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	3291667	4802555	85552198	41	111361											
A2BP1	54715	broad.mit.edu	37	chr16	7629790	7629790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttagcagacagatgaCgcagcaccgacggatggcca	11	11	1	3	rs145861898	byFrequency	TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:7629790C>T	uc002cys.2	+	6	1270	c.282C>T	c.(280-282)GAC>GAT	p.D94D	A2BP1_uc010buf.1_Silent_p.D94D|A2BP1_uc002cyr.1_Silent_p.D93D|A2BP1_uc002cyt.2_Silent_p.D94D|A2BP1_uc010uxz.1_Silent_p.D137D|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.D94D|A2BP1_uc010uyb.1_Silent_p.D94D|A2BP1_uc002cyw.2_Silent_p.D114D|A2BP1_uc002cyy.2_Silent_p.D114D|A2BP1_uc002cyx.2_Silent_p.D114D|A2BP1_uc010uyc.1_Silent_p.D114D	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	94					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		AGACAGATGACGCAGCACCGA	0.517													T	7629790	C	T	7629790	2	4	204	1	0	0	0	0	0	0	0	1	3	535	19	1		1	A2BP1	16	7629790	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08	2827235	7629790	82724963	42	111362											
ZNF821	55565	broad.mit.edu	37	chr16	71894501	71894501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactaaaggcaatatccttcCcctcagcactggagggaccc	9	14	1	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr16:71894501C>T	uc010vmj.1	-	7	1035	c.659G>A	c.(658-660)GGG>GAG	p.G220E	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Missense_Mutation_p.G70E|ZNF821_uc002fbf.2_Missense_Mutation_p.G178E|ZNF821_uc002fbg.3_Missense_Mutation_p.G70E|ZNF821_uc002fbh.3_Missense_Mutation_p.G178E|ZNF821_uc002fbi.3_Missense_Mutation_p.G17E	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AATATCCTTCCCCTCAGCACT	0.493													T	71894501	C	T	71894501	3	4	204	1	0	0	0	0	1	0	0	0	18175	623	22	4	583	4	ZNF821	16	71894501	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	64264711	71894501	18460252	43	111363											
MYO1C	4641	broad.mit.edu	37	chr17	1383891	1383891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttccagtcactcttgtcgTtgatggaggagactttggca	11	10	2	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:1383891T>C	uc002fsp.2	-	7	1056	c.836A>G	c.(835-837)AAC>AGC	p.N279S	MYO1C_uc002fsn.2_Missense_Mutation_p.N260S|MYO1C_uc002fso.2_Missense_Mutation_p.N244S|MYO1C_uc010vqj.1_Missense_Mutation_p.N244S|MYO1C_uc010vqk.1_Missense_Mutation_p.N255S	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	279	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				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACTCTTGTCGTTGATGGAGGA	0.607													C	1383891	T	C	1383891	3	2	204	1	0	0	0	0	1	0	0	0	10070	1725	60	3	2459	3	MYO1C	17	1383891	Missense_Mutation	SNP	T	TCGA-D7-6519-01A-11D-1800-08		1383891	79811319	44	111364											
PLD2	5338	broad.mit.edu	37	chr17	4721623	4721623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattagctgctcagatgggcGgacggttctgaacaaggtgg	15	8	2	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:4721623G>T	uc002fzc.2	+	19	2053	c.1952G>T	c.(1951-1953)CGG>CTG	p.R651L	PLD2_uc010vsj.1_3'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.R651L	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	651	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	TCAGATGGGCGGACGGTTCTG	0.567													T	4721623	G	T	4721623	3	4	204	1	0	0	0	0	1	0	0	0	12046	1116	39	5	2022	5	PLD2	17	4721623	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	3337732	4721623	76473587	45	111365											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14204920	14204920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccgcccccgccgccgGtgaggaggaagctcgcgctg	16	18	0	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:14204920G>A	uc002goh.1	+	1	415	c.85G>A	c.(85-87)GTG>ATG	p.V29M	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	29	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		cccgccgccggTGAGGAGGAA	0.622													A	14204920	G	A	14204920	3	1	204	1	0	0	0	0	1	0	0	0	7366	1261	44	4	87	4	HS3ST3B1	17	14204920	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	9483297	14204920	66990290	46	111366											
TANC2	26115	broad.mit.edu	37	chr17	61497864	61497864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaccacacacttccccGgctcatcagggaggatctta	8	16	3	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:61497864G>A	uc002jal.3	+	25	4544	c.4521G>A	c.(4519-4521)CCG>CCA	p.P1507P	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.P618P	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1507							binding			ovary(2)	2						ACACTTCCCCGGCTCATCAGG	0.587													A	61497864	G	A	61497864	2	1	204	1	0	0	0	0	0	0	0	1	15542	1103	39	1		1	TANC2	17	61497864	Silent	SNP	G	TCGA-D7-6519-01A-11D-1800-08	47292944	61497864	19697346	47	111367											
SPHK1	8877	broad.mit.edu	37	chr17	74382134	74382134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaacccgcgcggcggcAagggcaaggccttgcagctc	15	14	0	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr17:74382134A>G	uc002jrf.1	+	5	888	c.79A>G	c.(79-81)AAG>GAG	p.K27E	SPHK1_uc002jrg.1_5'UTR|SPHK1_uc010wtc.1_Missense_Mutation_p.K113E|SPHK1_uc002jrh.2_Missense_Mutation_p.K41E|SPHK1_uc002jrj.2_Missense_Mutation_p.K113E|SPHK1_uc002jri.2_Missense_Mutation_p.K27E|SPHK1_uc002jrk.3_Missense_Mutation_p.K27E	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	27	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GCGCGGCGGCAAGGGCAAGGC	0.657											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	74382134	A	G	74382134	3	3	204	1	0	0	0	0	1	0	0	0	15045	131	5	3	389	3	SPHK1	17	74382134	Missense_Mutation	SNP	A	TCGA-D7-6519-01A-11D-1800-08	12884270	74382134	6813076	48	111368											
UPF1	5976	broad.mit.edu	37	chr19	18966037	18966037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcgtctaccacctggcCcggcaaggcaacgggtaggg	13	14	1	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:18966037C>T	uc002nkg.2	+	11	1838	c.1563C>T	c.(1561-1563)GCC>GCT	p.A521A	UPF1_uc002nkf.2_Silent_p.A510A	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	521					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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACCACCTGGCCCGGCAAGGCA	0.662													T	18966037	C	T	18966037	2	4	204	1	0	0	0	0	0	0	0	1	17000	610	22	4		4	UPF1	19	18966037	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08		18966037	40162946	49	111369											
PLEKHG2	64857	broad.mit.edu	37	chr19	39912813	39912813	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagccaccagtttcaggctCtgcaccccctgaggacctgg	10	16	3	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:39912813C>G	uc010xuz.1	+	17	1887	c.1562C>G	c.(1561-1563)TCT>TGT	p.S521C	PLEKHG2_uc010xuy.1_Missense_Mutation_p.S462C|PLEKHG2_uc002olj.2_Missense_Mutation_p.S521C|PLEKHG2_uc010xva.1_Missense_Mutation_p.S299C	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	521					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			skin(2)|pancreas(1)|breast(1)	4	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)			GTTTCAGGCTCTGCACCCCCT	0.582													G	39912813	C	G	39912813	3	3	204	1	0	0	0	0	1	0	0	0	12069	913	32	5	1624	5	PLEKHG2	19	39912813	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	20946776	39912813	19216170	50	111370											
TGFB1	7040	broad.mit.edu	37	chr19	41847896	41847896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggccggttcatgccaTgaatggtggccaggtcacct	14	10	2	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:41847896T>G	uc002oqh.1	-	5	1619	c.752A>C	c.(751-753)CAT>CCT	p.H251P	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	251					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)	GTTCATGCCATGAATGGTGGC	0.607													G	41847896	T	G	41847896	3	3	204	1	0	0	0	0	1	0	0	0	15813	1464	51	5	432	5	TGFB1	19	41847896	Missense_Mutation	SNP	T	TCGA-D7-6519-01A-11D-1800-08	1935083	41847896	17281087	51	111371											
PPFIA3	8541	broad.mit.edu	37	chr19	49637939	49637939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatgaagaagcttcaggAtgagttgctgctaaacaagg	11	7	1	3			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:49637939A>G	uc002pmr.2	+	12	1753	c.1421A>G	c.(1420-1422)GAT>GGT	p.D474G	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.D398G|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.D342G	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	474	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		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)		AAGCTTCAGGATGAGTTGCTG	0.607													G	49637939	A	G	49637939	3	3	204	1	0	0	0	0	1	0	0	0	12311	333	12	3	1463	3	PPFIA3	19	49637939	Missense_Mutation	SNP	A	TCGA-D7-6519-01A-11D-1800-08	7790043	49637939	9491044	52	111372											
SIGLEC7	27036	broad.mit.edu	37	chr19	51656357	51656357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggcagatgataacccccGacaccatggcctggctgccc	11	16	0	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:51656357G>A	uc002pvv.1	+	7	1328	c.1259G>A	c.(1258-1260)CGA>CAA	p.R420Q	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R327Q|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_3'UTR	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	420	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GATAACCCCCGACACCATGGC	0.547													A	51656357	G	A	51656357	3	1	204	1	0	0	0	0	1	0	0	0	14313	1058	37	1	1285	1	SIGLEC7	19	51656357	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	2018418	51656357	7472626	53	111373											
FPR3	2359	broad.mit.edu	37	chr19	52327718	52327734	+	Frame_Shift_Del	DEL	CTTACGTGTCTTCGCTG	CTTACGTGTCTTCGCTG	-													atgattaaatccagccgtccCttacgtgtcttcgctgctgt					rs116930736	by1000genomes	TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:52327718_52327734delCTTACGTGTCTTCGCTG	uc002pxt.1	+	2	901_917	c.717_733delCTTACGTGTCTTCGCTG	c.(715-735)CCCTTACGTGTCTTCGCTGCTfs	p.P239fs		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	239_245	Helical; Name=6; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						CCAGCCGTCCCTTACGTGTCTTCGCTGCTGTGGTGGC	0.438													-	52327734	CTTACGTGTCTTCGCTG	-	52327718	7	5	204	1	0	1	0	1	0	0	0	0	6040	668	24	0	719	0	FPR3	19	52327718	Frame_Shift_Del	DEL	CTTACGTGTCTTCGCTG	TCGA-D7-6519-01A-11D-1800-08	671361	52327718	6801265	54	111374											
LILRA2	11027	broad.mit.edu	37	chr19	55086410	55086410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggccccgtgagcccgagtCgcaggtggtcgtacaggtgc	17	12	0	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:55086410C>T	uc002qgg.3	+	4	654	c.565C>T	c.(565-567)CGC>TGC	p.R189C	LILRA2_uc010ern.2_Missense_Mutation_p.R189C|LILRA2_uc002qgf.2_Missense_Mutation_p.R189C|LILRA2_uc010yfe.1_Missense_Mutation_p.R189C|LILRA2_uc010yff.1_Missense_Mutation_p.R177C|LILRA2_uc010ero.2_Missense_Mutation_p.R177C|LILRA2_uc010yfg.1_Missense_Mutation_p.R189C	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	189	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCGAGTCGCAGGTGGTC	0.572													T	55086410	C	T	55086410	3	4	204	1	0	0	0	0	1	0	0	0	8785	884	31	1	579	1	LILRA2	19	55086410	Missense_Mutation	SNP	C	TCGA-D7-6519-01A-11D-1800-08	2758692	55086410	4042573	55	111375											
NLRP8	126205	broad.mit.edu	37	chr19	56467135	56467135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggcctgcgcttcggccGtggaacagtcattccaatgc	12	13	1	0	rs147105419	byFrequency	TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr19:56467135G>A	uc002qmh.2	+	3	1782	c.1711G>A	c.(1711-1713)GTG>ATG	p.V571M	NLRP8_uc010etg.2_Missense_Mutation_p.V571M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	571						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGCTTCGGCCGTGGAACAGTC	0.493													A	56467135	G	A	56467135	3	1	204	1	0	0	0	0	1	0	0	0	10483	1145	40	1	1721	1	NLRP8	19	56467135	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	1380725	56467135	2661848	56	111376											
ADRM1	11047	broad.mit.edu	37	chr20	60883474	60883474	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggggcagctgggccccctCatgtgccagttcggtctgcc	14	15	2	0			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr20:60883474C>T	uc002ycn.2	+	9	1145	c.1065C>T	c.(1063-1065)CTC>CTT	p.L355L	ADRM1_uc002yco.2_Silent_p.L355L	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	355					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGGGCCCCCTCATGTGCCAGT	0.697													T	60883474	C	T	60883474	2	4	204	1	0	0	0	0	0	0	0	1	345	813	29	4		4	ADRM1	20	60883474	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08		60883474	2142046	57	111377											
PPM1F	9647	broad.mit.edu	37	chr22	22285641	22285675	+	Splice_Site	DEL	CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG	CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG	-													ctgcaatgagcgcacacacaCctgtggtgccgctctgcagc							TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chr22:22285640_22285674ACCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG>A	uc002zvp.2	-	6	895	c.748_splice	c.e6-1	p.R250_splice	PPM1F_uc011aik.2_Splice_Site_p.R146_splice|PPM1F_uc002zvq.3_Splice_Site_p.R250_splice	NM_014634	NP_055449	P49593	PPM1F_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA.	250					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.G254V(1)		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)		GCGCACACACACCTGTGGTGCCGCTCTGCAGCCGctgcagggagagagggcccat	0.604													-	22285675	CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG	-	22285641	8	5	204	1	0	1	0	1	0	0	1	0	12339	507	18	0	606	0	PPM1F	22	22285641	Splice_Site	DEL	CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG	TCGA-D7-6519-01A-11D-1800-08		22285641	29018925	58	111378											
VCX3A	51481	broad.mit.edu	37	chrX	6451825	6451825	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccatctcgctctcctgactCagtggttcctccacctggct	7	17	3	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:6451825C>A	uc004crs.2	-	3	829	c.522G>T	c.(520-522)CTG>CTT	p.L174L	VCX3A_uc010ndk.1_Intron	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	174	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|8.|Glu-rich.				brain development	nucleolus					0						TCTCCTGACTCAGTGGTTCCT	0.587													A	6451825	C	A	6451825	2	1	204	1	0	0	0	0	0	0	0	1	17141	813	29	5		5	VCX3A	23	6451825	Silent	SNP	C	TCGA-D7-6519-01A-11D-1800-08		6451825	148818735	59	111379											
VCX	26609	broad.mit.edu	37	chrX	7812018	7812018	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccaggtggaggaaccaccGagtcaggagagcgagatgga	17	8	1	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:7812018G>T	uc004crz.2	+	3	801	c.582G>T	c.(580-582)CCG>CCT	p.P194P		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	variable charge, X chromosome	194	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|10.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding				0		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGGAACCACCGAGTCAGGAGA	0.582													T	7812018	G	T	7812018	2	4	204	1	0	0	0	0	0	0	0	1	17139	1045	37	5		5	VCX	23	7812018	Silent	SNP	G	TCGA-D7-6519-01A-11D-1800-08	1360193	7812018	147458542	60	111380											
CCNB3	85417	broad.mit.edu	37	chrX	50056925	50056925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgacatgagggccattcttGtggactggttggtggaggtg	18	5	1	2			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:50056925G>T	uc004dox.3	+	8	3791	c.3493G>T	c.(3493-3495)GTG>TTG	p.V1165L	CCNB3_uc004doy.2_Missense_Mutation_p.V1165L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Missense_Mutation_p.V57L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1165					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GGCCATTCTTGTGGACTGGTT	0.443													T	50056925	G	T	50056925	3	4	204	1	0	0	0	0	1	0	0	0	2914	1377	48	5	3515	5	CCNB3	23	50056925	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	42244907	50056925	105213635	61	111381											
ITIH5L	347365	broad.mit.edu	37	chrX	54817436	54817436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtgccgctgaagcagTtcctcataggccagggaaaa	12	12	1	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:54817436T>C	uc004dtj.2	-	4	480	c.450A>G	c.(448-450)GAA>GAG	p.E150E		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	150	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GCTGAAGCAGTTCCTCATAGG	0.582													C	54817436	T	C	54817436	2	2	204	1	0	0	0	0	0	0	0	1	7908	1722	60	3		3	ITIH5L	23	54817436	Silent	SNP	T	TCGA-D7-6519-01A-11D-1800-08	4760511	54817436	100453124	62	111382											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524418	73524418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctcgtgactgtgatcGtcagaaagagcagaaatgct	12	8	2	5			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:73524418G>A	uc004ebs.3	+	1	394	c.317G>A	c.(316-318)CGT>CAT	p.R106H		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	106	CCHC-type 4.						nucleic acid binding|zinc ion binding				0						GACTGTGATCGTCAGAAAGAG	0.532													A	73524418	G	A	73524418	3	1	204	1	0	0	0	0	1	0	0	0	17579	1145	40	1	319	1	ZCCHC13	23	73524418	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	18706982	73524418	81746142	63	111383											
RPS6KA6	27330	broad.mit.edu	37	chrX	83319320	83319320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcgctttttcatgctccGtcgctgggctaagcttgaag	11	10	1	1			TCGA-D7-6519-01A-11D-1800-08	TCGA-D7-6519-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2e67393-50d7-4bcc-9bbd-c695086a936a	fb2d7620-ef06-4044-a50d-5bb868e8642b	g.chrX:83319320G>A	uc004eej.1	-	22	2280	c.2203C>T	c.(2203-2205)CGG>TGG	p.R735W	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R735W|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R632W	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	735					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTCATGCTCCGTCGCTGGGCT	0.448													A	83319320	G	A	83319320	3	1	204	1	0	0	0	0	1	0	0	0	13655	1144	40	1	38	1	RPS6KA6	23	83319320	Missense_Mutation	SNP	G	TCGA-D7-6519-01A-11D-1800-08	9794902	83319320	71951240	64	111384											
EPHB2	2048	broad.mit.edu	37	chr1	23234547	23234547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaactatgttcaccgtgaCctggctgcccgcaacatcct	8	14	1	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:23234547C>T	uc009vqj.1	+	12	2383	c.2238C>T	c.(2236-2238)GAC>GAT	p.D746D	EPHB2_uc001bge.2_Silent_p.D747D|EPHB2_uc001bgf.2_Silent_p.D746D|EPHB2_uc010odu.1_Silent_p.D688D	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	746	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		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)		TTCACCGTGACCTGGCTGCCC	0.562									Hereditary_Prostate_Cancer				T	23234547	C	T	23234547	2	4	205	1	0	0	0	0	0	0	0	1	5175	506	18	4		4	EPHB2	1	23234547	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08		23234547	226016074	1	111385											
RABGGTB	5876	broad.mit.edu	37	chr1	76257946	76257946	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacttggctggtggctttgTgaacgacaattaccctcagg	11	9	1	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:76257946T>A	uc001dgy.1	+	7	731	c.660T>A	c.(658-660)TGT>TGA	p.C220*	RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Nonsense_Mutation_p.C174*|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	220	PFTB 5.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						GGTGGCTTTGTGAACGACAAT	0.413													A	76257946	T	A	76257946	4	1	205	1	0	0	0	0	0	1	0	0	12968	1702	59	5	686	5	RABGGTB	1	76257946	Nonsense_Mutation	SNP	T	TCGA-D7-6520-01A-11D-1800-08	53023399	76257946	172992675	2	111386											
ABCD3	5825	broad.mit.edu	37	chr1	94964197	94964197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaatttgtggtccaaatGgctgcggaaagagttcactt	10	7	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:94964197G>A	uc001dqn.3	+	17	1528	c.1426G>A	c.(1426-1428)GGC>AGC	p.G476S	ABCD3_uc010oto.1_Missense_Mutation_p.G500S|ABCD3_uc010otp.1_Missense_Mutation_p.G403S|ABCD3_uc009wdr.2_Missense_Mutation_p.G366S|ABCD3_uc001dqo.3_Missense_Mutation_p.G164S	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	476	ATP (Potential).|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			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGGTCCAAATGGCTGCGGAAA	0.348													A	94964197	G	A	94964197	3	1	205	1	0	0	0	0	1	0	0	0	62	1348	47	4	1523	4	ABCD3	1	94964197	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	18706251	94964197	154286424	3	111387											
FLG2	388698	broad.mit.edu	37	chr1	152327123	152327123	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtccaaagccagaggactGatctgagcctgatccatgtt	10	10	1	4			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:152327123G>A	uc001ezw.3	-	3	3212	c.3139C>T	c.(3139-3141)CAG>TAG	p.Q1047*	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1047	Filaggrin 3.|Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGGACTGATCTGAGCCT	0.488													A	152327123	G	A	152327123	4	1	205	1	0	0	0	0	0	1	0	0	5923	1299	45	4	4040	4	FLG2	1	152327123	Nonsense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	57362926	152327123	96923498	4	111388											
SERPINC1	462	broad.mit.edu	37	chr1	173876592	173876592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggtgtactcacctcaAgaaatgccttatggaatgca	11	8	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:173876592A>C	uc001gjt.2	-	6	1333	c.1214T>G	c.(1213-1215)CTT>CGT	p.L405R		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	405					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	ACTCACCTCAAGAAATGCCTT	0.483													C	173876592	A	C	173876592	3	2	205	1	0	0	0	0	1	0	0	0	14109	72	3	5	188	5	SERPINC1	1	173876592	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08	21549469	173876592	75374029	5	111389											
RGS2	5997	broad.mit.edu	37	chr1	192779562	192779563	+	Splice_Site	INS	-	-	T													gagctgctagccagcaaatgINStaagttaactcttgagcttg							TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:192779562_192779563insT	uc001gsl.2	+	3	307	c.274_splice	c.e3+1	p.Y92_splice		NM_002923	NP_002914	P41220	RGS2_HUMAN	regulator of G-protein signaling 2						cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity				0						GCCAGCAAATGTAAGTTAACTC	0.495													T	192779563	-	T	192779562	8	5	205	1	0	1	1	0	0	0	1	0	13302	1391	48	0	285	0	RGS2	1	192779562	Splice_Site	INS	-	TCGA-D7-6520-01A-11D-1800-08	18902970	192779562	56471059	6	111390	524	2									
RGS2	5997	broad.mit.edu	37	chr1	192779563	192779564	+	Splice_Site	INS	-	-	T													agctgctagccagcaaatgtINSaagttaactcttgagcttga							TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:192779562_192779563G>GT	uc001gsl.3	+	3	307	c.274_splice	c.e3+1	p.Y92_splice		NM_002923	NP_002914	P41220	RGS2_HUMAN	Homo sapiens regulator of G-protein signaling 2, 24kDa (RGS2), mRNA.	92	Necessary to inhibit protein synthesis.|RGS.				cell cycle|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	GTPase activator activity|calmodulin binding|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCAGCAAATGTAAGTTAACTC	0.495													T	192779564	-	T	192779563	8	5	205	1	0	1	1	0	0	0	1	0	13302	1652	57	0	286	0	RGS2	1	192779563	Splice_Site	INS	-	TCGA-D7-6520-01A-11D-1800-08	1	192779563	56471058	7	111391	524	2									
SLC35F3	148641	broad.mit.edu	37	chr1	234458881	234458881	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtctggttgatcaagctgctCacccgactcaaagtgaggaa	11	10	4	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:234458881C>G	uc001hwa.1	+	7	1386	c.1158C>G	c.(1156-1158)CTC>CTG	p.L386L	SLC35F3_uc001hvy.1_Silent_p.L455L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	386					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCAAGCTGCTCACCCGACTCA	0.587											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	234458881	C	G	234458881	2	3	205	1	0	0	0	0	0	0	0	1	14590	813	29	5		5	SLC35F3	1	234458881	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08	41679318	234458881	14791740	8	111392											
RYR2	6262	broad.mit.edu	37	chr1	237586400	237586400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttttcattaggtggagtgGaagccacataagatggggac	14	5	1	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:237586400G>T	uc001hyl.1	+	12	977	c.857G>T	c.(856-858)GGA>GTA	p.G286V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	286	Cytoplasmic (By similarity).|MIR 4.				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AGGTGGAGTGGAAGCCACATA	0.413													T	237586400	G	T	237586400	3	4	205	1	0	0	0	0	1	0	0	0	13769	1174	41	5	903	5	RYR2	1	237586400	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	3127519	237586400	11664221	9	111393											
OR2G2	81470	broad.mit.edu	37	chr1	247751887	247751887	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcctgtaccgctgcTtcaccagcagtgttattccc	6	16	2	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:247751887T>G	uc010pyy.1	+	1	226	c.226T>G	c.(226-228)TTC>GTC	p.F76V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			GTACCGCTGCTTCACCAGCAG	0.483													G	247751887	T	G	247751887	3	3	205	1	0	0	0	0	1	0	0	0	10998	1609	56	5	228	5	OR2G2	1	247751887	Missense_Mutation	SNP	T	TCGA-D7-6520-01A-11D-1800-08	10165487	247751887	1498734	10	111394											
OR2W3	343171	broad.mit.edu	37	chr1	248059821	248059821	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctggggaagagagagctAggaaaggagtaaaggcatct	15	5	2	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr1:248059821A>G	uc001idp.1	+	3	1202	c.933A>G	c.(931-933)CTA>CTG	p.L311L	OR2W3_uc010pzb.1_Silent_p.L311L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	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)			AGAGAGAGCTAGGAAAGGAGT	0.537													G	248059821	A	G	248059821	2	3	205	1	0	0	0	0	0	0	0	1	11033	407	15	3		3	OR2W3	1	248059821	Silent	SNP	A	TCGA-D7-6520-01A-11D-1800-08	307934	248059821	1190800	11	111395											
APOB	338	broad.mit.edu	37	chr2	21225842	21225842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaacagttcctggtacAgattctgggccttgtccttc	10	11	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:21225842A>G	uc002red.2	-	29	12580	c.12452T>C	c.(12451-12453)CTG>CCG	p.L4151P		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4151					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCTGGTACAGATTCTGGGC	0.502													G	21225842	A	G	21225842	3	3	205	1	0	0	0	0	1	0	0	0	785	188	7	3	1243	3	APOB	2	21225842	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08		21225842	221973531	12	111396											
KCNH7	90134	broad.mit.edu	37	chr2	163230084	163230084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattctgatcctgctgttaCcatactgtaggctgggggga	12	8	1	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:163230084C>A	uc002uch.1	-	15	3432	c.3220G>T	c.(3220-3222)GTA>TTA	p.V1074L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1074	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	CCTGCTGTTACCATACTGTAG	0.488													A	163230084	C	A	163230084	3	1	205	1	0	0	0	0	1	0	0	0	8037	507	18	5	378	5	KCNH7	2	163230084	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	142004242	163230084	79969289	13	111397											
XIRP2	129446	broad.mit.edu	37	chr2	168108443	168108443	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccaccttccaagaggaatCtgcatttataagtggtaaat	7	8	1	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:168108443C>G	uc002udx.2	+	8	10559	c.10541C>G	c.(10540-10542)TCT>TGT	p.S3514C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S3339C|XIRP2_uc010fpq.2_Missense_Mutation_p.S3292C|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3339					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAGAGGAATCTGCATTTATA	0.398													G	168108443	C	G	168108443	3	3	205	1	0	0	0	0	1	0	0	0	17427	913	32	5	10571	5	XIRP2	2	168108443	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	4878359	168108443	75090930	14	111398											
TTN	7273	broad.mit.edu	37	chr2	179443626	179443626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaggtatattccatgcCctcatgaagtctggttactc	8	11	2	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:179443626C>T	uc010zfg.1	-	269	60651	c.60427G>A	c.(60427-60429)GGC>AGC	p.G20143S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G13838S|TTN_uc010zfi.1_Missense_Mutation_p.G13771S|TTN_uc010zfj.1_Missense_Mutation_p.G13646S|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21070							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCCATGCCCTCATGAAGT	0.468													T	179443626	C	T	179443626	3	4	205	1	0	0	0	0	1	0	0	0	16732	623	22	4	40020	4	TTN	2	179443626	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	11335183	179443626	63755747	15	111399											
EPHA4	2043	broad.mit.edu	37	chr2	222320295	222320295	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgacaaaagctgcaatgaGaattaccaccagcaccacac	7	12	0	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:222320295G>A	uc002vmq.2	-	8	1729	c.1687C>T	c.(1687-1689)CTC>TTC	p.L563F	EPHA4_uc002vmr.2_Missense_Mutation_p.L563F|EPHA4_uc010zlm.1_Missense_Mutation_p.L504F|EPHA4_uc010zln.1_Missense_Mutation_p.L563F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	563	Helical; (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		GCTGCAATGAGAATTACCACC	0.522													A	222320295	G	A	222320295	3	1	205	1	0	0	0	0	1	0	0	0	5169	942	33	4	1313	4	EPHA4	2	222320295	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	42876669	222320295	20879078	16	111400											
DOCK10	55619	broad.mit.edu	37	chr2	225639637	225639637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacttgtcaggatcgtccGccgcttgcactgctccgcca	9	17	1	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:225639637G>A	uc010fwz.1	-	52	6237	c.5998C>T	c.(5998-6000)CGG>TGG	p.R2000W	DOCK10_uc002vob.2_Missense_Mutation_p.R1994W|DOCK10_uc002voa.2_Missense_Mutation_p.R656W	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2000	DHR-2.						GTP binding			ovary(2)	2		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)		AGGATCGTCCGCCGCTTGCAC	0.567													A	225639637	G	A	225639637	3	1	205	1	0	0	0	0	1	0	0	0	4685	1086	38	1	582	1	DOCK10	2	225639637	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	3319342	225639637	17559736	17	111401											
DOCK10	55619	broad.mit.edu	37	chr2	225661722	225661722	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgacttctgcttgttaaattCaaaattcttcctcatgaaaa	4	8	4	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr2:225661722C>G	uc010fwz.1	-	43	5025	c.4786G>C	c.(4786-4788)GAA>CAA	p.E1596Q	DOCK10_uc002vob.2_Missense_Mutation_p.E1590Q|DOCK10_uc002voa.2_Missense_Mutation_p.E252Q|DOCK10_uc002voc.2_Missense_Mutation_p.E450Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1596	DHR-2.						GTP binding			ovary(2)	2		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)		TTGTTAAATTCAAAATTCTTC	0.403													G	225661722	C	G	225661722	3	3	205	1	0	0	0	0	1	0	0	0	4685	835	29	5	1830	5	DOCK10	2	225661722	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	22085	225661722	17537651	18	111402											
RHOA	387	broad.mit.edu	37	chr3	49405953	49405953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatcataatcttcctgcCcagctgtgtcccacaaagcc	8	15	2	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr3:49405953C>T	uc003cwu.2	-	3	461	c.185G>A	c.(184-186)GGG>GAG	p.G62E	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	62	GTP (By similarity).				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			ovary(2)	2				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)	ATCTTCCTGCCCAGCTGTGTC	0.473													T	49405953	C	T	49405953	3	4	205	1	0	0	0	0	1	0	0	0	13331	623	22	4	408	4	RHOA	3	49405953	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		49405953	148616477	19	111403											
CCKAR	886	broad.mit.edu	37	chr4	26483296	26483296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcactcatatggctgtaCgagaacctggacagagaggc	14	9	1	2	rs79677636		TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr4:26483296C>T	uc003gse.1	-	5	1404	c.1251G>A	c.(1249-1251)TCG>TCA	p.S417S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	417	Cytoplasmic (Potential).				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			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	TATGGCTGTACGAGAACCTGG	0.532													T	26483296	C	T	26483296	2	4	205	1	0	0	0	0	0	0	0	1	2880	523	19	1		1	CCKAR	4	26483296	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08		26483296	164670980	20	111404											
SMR3B	10879	broad.mit.edu	37	chr4	71255426	71255426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccatatccacctggacCgctggctcctcctcaacctt	8	17	1	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr4:71255426C>T	uc011cas.1	+	3	182	c.101C>T	c.(100-102)CCG>CTG	p.P34L	SMR3B_uc003hfh.2_Missense_Mutation_p.P34L	NM_006685	NP_006676	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3	34	Pro-rich.					extracellular space				skin(1)	1		all_hematologic(202;0.196)				CCACCTGGACCGCTGGCTCCT	0.502													T	71255426	C	T	71255426	3	4	205	1	0	0	0	0	1	0	0	0	14812	652	23	1	107	1	SMR3B	4	71255426	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	44772130	71255426	119898850	21	111405											
GCNT4	51301	broad.mit.edu	37	chr5	74325257	74325257	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatttaaatcagcctggagTctggaaatgtgggcatattc	10	7	2	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:74325257T>A	uc003kdn.2	-	1	1468	c.606A>T	c.(604-606)AGA>AGT	p.R202S		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	202	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CAGCCTGGAGTCTGGAAATGT	0.403													A	74325257	T	A	74325257	3	1	205	1	0	0	0	0	1	0	0	0	6303	1664	58	5	759	5	GCNT4	5	74325257	Missense_Mutation	SNP	T	TCGA-D7-6520-01A-11D-1800-08		74325257	106590003	22	111406											
OTP	23440	broad.mit.edu	37	chr5	76932916	76932916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtggtgatgtcctccccGggcagcagagtggctccctc	13	14	0	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:76932916G>A	uc003kfg.2	-	2	325	c.177C>T	c.(175-177)CCC>CCT	p.P59P		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	orthopedia homeobox	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TGTCCTCCCCGGGCAGCAGAG	0.726													A	76932916	G	A	76932916	2	1	205	1	0	0	0	0	0	0	0	1	11310	1103	39	1		1	OTP	5	76932916	Silent	SNP	G	TCGA-D7-6520-01A-11D-1800-08	2607659	76932916	103982344	23	111407											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773983	140773983	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctactggtaacagccAgcgacagcggggacccgccc	13	15	0	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:140773983A>G	uc003lkd.1	+	1	2501	c.1603A>G	c.(1603-1605)AGC>GGC	p.S535G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.S535G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAACAGCCAGCGACAGCGG	0.587													G	140773983	A	G	140773983	3	3	205	1	0	0	0	0	1	0	0	0	11560	188	7	3	1605	3	PCDHGA8	5	140773983	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08	63841067	140773983	40141277	24	111408											
CPEB4	80315	broad.mit.edu	37	chr5	173376580	173376580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcataaagctgagagcaAatcctattttcctcctaaag	6	11	1	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:173376580A>G	uc003mcs.3	+	6	2932	c.1526A>G	c.(1525-1527)AAA>AGA	p.K509R	CPEB4_uc010jju.1_Missense_Mutation_p.K484R|CPEB4_uc010jjv.2_Missense_Mutation_p.K492R|CPEB4_uc011dfg.1_Missense_Mutation_p.K484R|CPEB4_uc003mct.3_Missense_Mutation_p.K119R|CPEB4_uc003mcu.3_Missense_Mutation_p.K102R	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	509	RRM 1.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCTGAGAGCAAATCCTATTTT	0.338													G	173376580	A	G	173376580	3	3	205	1	0	0	0	0	1	0	0	0	3803	14	1	3	1548	3	CPEB4	5	173376580	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08	32602597	173376580	7538680	25	111409											
HRH2	3274	broad.mit.edu	37	chr5	175110886	175110886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaggccaagaggatcaAtcacattagctcctggaagg	12	9	3	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr5:175110886A>G	uc003mdd.2	+	1	2423	c.650A>G	c.(649-651)AAT>AGT	p.N217S	HRH2_uc003mdc.3_Missense_Mutation_p.N217S	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	217	Cytoplasmic (Potential).		N -> D.		G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	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)	AAGAGGATCAATCACATTAGC	0.572													G	175110886	A	G	175110886	3	3	205	1	0	0	0	0	1	0	0	0	7356	101	4	3	652	3	HRH2	5	175110886	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08	1734306	175110886	5804374	26	111410											
HDGFL1	154150	broad.mit.edu	37	chr6	22570002	22570002	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggagtgcaaggagaagttCggcaagcccaacaagaggcg	15	8	0	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:22570002C>T	uc003nds.2	+	1	325	c.198C>T	c.(196-198)TTC>TTT	p.F66F		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	66											0	Ovarian(93;0.163)					AGGAGAAGTTCGGCAAGCCCA	0.612													T	22570002	C	T	22570002	2	4	205	1	0	0	0	0	0	0	0	1	7019	883	31	1		1	HDGFL1	6	22570002	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08		22570002	148545065	27	111411											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834888	27834888	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctgcagccttcttggccttCttaggcgtggcccccgcggg	13	16	2	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:27834888C>T	uc003njx.2	-	1	472	c.420G>A	c.(418-420)AAG>AAA	p.K140K		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	140					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTTGGCCTTCTTAGGCGTGG	0.607													T	27834888	C	T	27834888	2	4	205	1	0	0	0	0	0	0	0	1	7123	912	32	4		4	HIST1H1B	6	27834888	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08	5264886	27834888	143280179	28	111412											
APOM	55937	broad.mit.edu	37	chr6	31625241	31625241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggccagggttaccagcGctttctcctctacagtgagt	11	12	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:31625241G>A	uc003nvl.2	+	4	501	c.428G>A	c.(427-429)CGC>CAC	p.R143H	APOM_uc003nvk.2_Missense_Mutation_p.R71H	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	143		Fatty acid.			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				0						GGTTACCAGCGCTTTCTCCTC	0.562													A	31625241	G	A	31625241	3	1	205	1	0	0	0	0	1	0	0	0	812	1087	38	1	442	1	APOM	6	31625241	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	3790353	31625241	139489826	29	111413											
CRISP2	7180	broad.mit.edu	37	chr6	49667600	49667600	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgttacctctctgctcCattcctaaacgtcacaagaa	5	13	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:49667600C>T	uc003ozq.2	-	6	444	c.188G>A	c.(187-189)TGG>TAG	p.W63*	CRISP2_uc003ozl.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozn.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozr.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozo.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozm.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozp.2_Nonsense_Mutation_p.W63*	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	63						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTCTCTGCTCCATTCCTAAAC	0.284													T	49667600	C	T	49667600	4	4	205	1	0	0	0	0	0	1	0	0	3880	595	21	4	563	4	CRISP2	6	49667600	Nonsense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	18042359	49667600	121447467	30	111414											
LRRC1	55227	broad.mit.edu	37	chr6	53706991	53706991	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctccagaaatagcaaacttCatgcagctggtggaactaga	9	10	1	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:53706991C>T	uc003pcd.1	+	2	520	c.243C>T	c.(241-243)TTC>TTT	p.F81F		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	81	LRR 3.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TAGCAAACTTCATGCAGCTGG	0.403													T	53706991	C	T	53706991	2	4	205	1	0	0	0	0	0	0	0	1	8966	825	29	4		4	LRRC1	6	53706991	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08	4039391	53706991	117408076	31	111415											
C6orf174	387104	broad.mit.edu	37	chr6	127836184	127836184	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcggttctcagctcatcGatctcgttctgaggcggtga	11	11	5	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:127836184G>A	uc003qbd.2	-	3	1975	c.1110C>T	c.(1108-1110)ATC>ATT	p.I370I		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	370	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TCAGCTCATCGATCTCGTTCT	0.537													A	127836184	G	A	127836184	2	1	205	1	0	0	0	0	0	0	0	1	2345	1048	37	1		1	C6orf174	6	127836184	Silent	SNP	G	TCGA-D7-6520-01A-11D-1800-08	74129193	127836184	43278883	32	111416											
SLC22A1	6580	broad.mit.edu	37	chr6	160555103	160555103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgccctgcctcactggcGctggctgcagctggcagtct	12	16	2	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr6:160555103G>A	uc003qtc.2	+	4	890	c.785G>A	c.(784-786)CGC>CAC	p.R262H	SLC22A1_uc003qtd.2_Missense_Mutation_p.R262H	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	262	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTCACTGGCGCTGGCTGCAG	0.677													A	160555103	G	A	160555103	3	1	205	1	0	0	0	0	1	0	0	0	14440	1087	38	1	799	1	SLC22A1	6	160555103	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	32718919	160555103	10559964	33	111417											
ATP5J2	9551	broad.mit.edu	37	chr7	99056877	99056877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtacttgttgtagtacCggtagtaacctgcaaacgca	10	8	0	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr7:99056877C>T	uc003uqm.2	-	3	193	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	PTCD1_uc011kiw.1_Intron|ATP5J2_uc003uql.2_Missense_Mutation_p.R44Q|ATP5J2_uc003uqn.2_Intron|ATP5J2_uc003uqo.2_Intron	NM_004889	NP_004880	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	50					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)				ovary(1)	1	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)					GTTGTAGTACCGGTAGTAACC	0.507											OREG0018190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	99056877	C	T	99056877	3	4	205	1	0	0	0	0	1	0	0	0	1159	652	23	1	143	1	ATP5J2	7	99056877	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		99056877	60081786	34	111418											
OR6B1	135946	broad.mit.edu	37	chr7	143701159	143701159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgggagcttgagtatgCgggcagccatgtttctgata	13	9	1	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr7:143701159C>T	uc003wdt.1	+	1	70	c.70C>T	c.(70-72)CGG>TGG	p.R24W		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					CTTGAGTATGCGGGCAGCCAT	0.502													T	143701159	C	T	143701159	3	4	205	1	0	0	0	0	1	0	0	0	11187	759	27	1	72	1	OR6B1	7	143701159	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	44644282	143701159	15437504	35	111419											
NRG1	3084	broad.mit.edu	37	chr8	32621813	32621813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggcaacacctgccttcCgcctggctgacagcaggact	11	14	0	2	rs147189312	byFrequency	TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr8:32621813C>T	uc003xiv.2	+	12	2333	c.1816C>T	c.(1816-1818)CGC>TGC	p.R606C	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.R611C|NRG1_uc003xiw.2_Missense_Mutation_p.R603C|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.R348C|NRG1_uc010lvs.2_Missense_Mutation_p.R348C|NRG1_uc010lvp.2_Missense_Mutation_p.R560C|NRG1_uc010lvq.2_Missense_Mutation_p.R543C|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.R449C|NRG1_uc003xja.2_Missense_Mutation_p.R417C	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	606	Cytoplasmic (Potential).				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|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|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACCTGCCTTCCGCCTGGCTGA	0.537													T	32621813	C	T	32621813	3	4	205	1	0	0	0	0	1	0	0	0	10647	652	23	1	3587	1	NRG1	8	32621813	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		32621813	113742209	36	111420											
HNF4G	3174	broad.mit.edu	37	chr8	76471222	76471222	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatacagtttgttaaacTttttgggatggttaaaattg	9	3	0	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr8:76471222T>A	uc003yaq.2	+	9	1202	c.932T>A	c.(931-933)CTT>CAT	p.L311H	HNF4G_uc003yar.2_Missense_Mutation_p.L348H	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	311					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			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTGTTAAACTTTTTGGGATG	0.393													A	76471222	T	A	76471222	3	1	205	1	0	0	0	0	1	0	0	0	7254	1609	56	5	1073	5	HNF4G	8	76471222	Missense_Mutation	SNP	T	TCGA-D7-6520-01A-11D-1800-08	43849409	76471222	69892800	37	111421											
TATDN1	83940	broad.mit.edu	37	chr8	125528240	125528240	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattcaccacatcttgtAggatgacatccaactgtact	5	11	3	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr8:125528240A>C	uc003yrd.2	-	5	276	c.234T>G	c.(232-234)CCT>CCG	p.P78P	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Silent_p.P31P|TATDN1_uc003yrf.2_Silent_p.P78P	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	78						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CACATCTTGTAGGATGACATC	0.294													C	125528240	A	C	125528240	2	2	205	1	0	0	0	0	0	0	0	1	15588	407	15	5		5	TATDN1	8	125528240	Silent	SNP	A	TCGA-D7-6520-01A-11D-1800-08	49057018	125528240	20835782	38	111422											
CDHR1	92211	broad.mit.edu	37	chr10	85968592	85968592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaatcattgtggagaaCtcagctgccattgactttga	9	9	3	3			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:85968592C>A	uc001kcv.2	+	12	1275	c.1275C>A	c.(1273-1275)AAC>AAA	p.N425K	CDHR1_uc001kcw.2_Missense_Mutation_p.N425K|CDHR1_uc009xst.2_Missense_Mutation_p.N184K	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	425	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TTGTGGAGAACTCAGCTGCCA	0.493													A	85968592	C	A	85968592	3	1	205	1	0	0	0	0	1	0	0	0	3118	564	20	5	1321	5	CDHR1	10	85968592	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		85968592	49566155	39	111423											
RNLS	55328	broad.mit.edu	37	chr10	90342921	90342921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagcttcctgtcatcccGgcgcccacgatcagcacctg	8	18	2	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:90342921G>A	uc001kfe.2	-	1	162	c.27C>T	c.(25-27)GCC>GCT	p.A9A	RNLS_uc010qms.1_Silent_p.A9A|RNLS_uc001kfd.2_Silent_p.A9A	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	9						extracellular region	oxidoreductase activity			ovary(1)	1						CTGTCATCCCGGCGCCCACGA	0.667											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	90342921	G	A	90342921	2	1	205	1	0	0	0	0	0	0	0	1	13505	1103	39	1		1	RNLS	10	90342921	Silent	SNP	G	TCGA-D7-6520-01A-11D-1800-08	4374329	90342921	45191826	40	111424											
CCDC147	159686	broad.mit.edu	37	chr10	106124545	106124545	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaaaggagagagaccagctCttatcagaagtggtaaaatt	10	6	2	3			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:106124545C>A	uc001kyh.2	+	4	629	c.495C>A	c.(493-495)CTC>CTA	p.L165L		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	165	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		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)		GAGACCAGCTCTTATCAGAAG	0.453													A	106124545	C	A	106124545	2	1	205	1	0	0	0	0	0	0	0	1	2781	900	32	5		5	CCDC147	10	106124545	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08	15781624	106124545	29410202	41	111425											
TACC2	10579	broad.mit.edu	37	chr10	123842259	123842259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgactgagccaaggAaggacccacagggagccagg	16	10	0	3			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr10:123842259A>G	uc001lfv.2	+	4	604	c.244A>G	c.(244-246)AAG>GAG	p.K82E	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.K82E|TACC2_uc010qtv.1_Missense_Mutation_p.K82E	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	82						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAGCCAAGGAAGGACCCACA	0.632													G	123842259	A	G	123842259	3	3	205	1	0	0	0	0	1	0	0	0	15499	247	9	3	254	3	TACC2	10	123842259	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08	17717714	123842259	11692488	42	111426											
OR52L1	338751	broad.mit.edu	37	chr11	6007312	6007312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgatggggtacatgatgAccaaagcggtgagtgaggaa	15	5	0	5			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:6007312A>G	uc001mcd.2	-	1	904	c.849T>C	c.(847-849)GGT>GGC	p.G283G		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	283	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		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)		GTACATGATGACCAAAGCGGT	0.493													G	6007312	A	G	6007312	2	3	205	1	0	0	0	0	0	0	0	1	11125	262	10	3		3	OR52L1	11	6007312	Silent	SNP	A	TCGA-D7-6520-01A-11D-1800-08		6007312	128999204	43	111427											
LRRC55	219527	broad.mit.edu	37	chr11	56954951	56954951	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccagtgaagaggaagagatCtgacatgcctgcctctcatc	11	11	2	4			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:56954951C>A	uc001njl.1	+	2	1170	c.1023C>A	c.(1021-1023)ATC>ATA	p.I341I	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	311						integral to membrane					0						AGGAAGAGATCTGACATGCCT	0.607													A	56954951	C	A	56954951	2	1	205	1	0	0	0	0	0	0	0	1	9011	903	32	5		5	LRRC55	11	56954951	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08	50947639	56954951	78051565	44	111428											
TIMM10	26519	broad.mit.edu	37	chr11	57296266	57296266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaactctgtcaactttttgCccatccgctcatggatgtcc	6	14	3	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:57296266C>T	uc001nkm.1	-	3	344	c.197G>A	c.(196-198)GGC>GAC	p.G66D		NM_012456	NP_036588	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10	66					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding				0						CAACTTTTTGCCCATCCGCTC	0.542													T	57296266	C	T	57296266	3	4	205	1	0	0	0	0	1	0	0	0	15902	739	26	2	79	2	TIMM10	11	57296266	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	341315	57296266	77710250	45	111429											
CTNND1	1500	broad.mit.edu	37	chr11	57573377	57573377	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagagaactgtgtttgcctTcttcggaacttatcatatca	8	8	3	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:57573377T>A	uc001nmc.3	+	10	2317	c.1746T>A	c.(1744-1746)CTT>CTA	p.L582L	CTNND1_uc001nlh.1_Silent_p.L582L|CTNND1_uc001nlu.3_Silent_p.L481L|CTNND1_uc001nlt.3_Silent_p.L481L|CTNND1_uc001nls.3_Silent_p.L481L|CTNND1_uc001nlw.3_Silent_p.L481L|CTNND1_uc001nmf.3_Silent_p.L582L|CTNND1_uc001nmd.3_Silent_p.L528L|CTNND1_uc001nlk.3_Silent_p.L528L|CTNND1_uc001nme.3_Silent_p.L582L|CTNND1_uc001nll.3_Silent_p.L528L|CTNND1_uc001nmg.3_Silent_p.L528L|CTNND1_uc001nlj.3_Silent_p.L528L|CTNND1_uc001nlr.3_Silent_p.L528L|CTNND1_uc001nlp.3_Silent_p.L528L|CTNND1_uc001nlx.3_Silent_p.L259L|CTNND1_uc001nlz.3_Silent_p.L259L|CTNND1_uc009ymn.2_Silent_p.L259L|CTNND1_uc001nlm.3_Silent_p.L582L|CTNND1_uc001nly.3_Silent_p.L259L|CTNND1_uc001nmb.3_Silent_p.L259L|CTNND1_uc001nma.3_Silent_p.L259L|CTNND1_uc001nmi.3_Silent_p.L481L|CTNND1_uc001nmh.3_Silent_p.L582L|CTNND1_uc001nlq.3_Silent_p.L481L|CTNND1_uc001nln.3_Silent_p.L582L|CTNND1_uc001nli.3_Silent_p.L582L|CTNND1_uc001nlo.3_Silent_p.L481L|CTNND1_uc001nlv.3_Silent_p.L481L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	582					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(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				GTGTTTGCCTTCTTCGGAACT	0.458													A	57573377	T	A	57573377	2	1	205	1	0	0	0	0	0	0	0	1	4019	1770	62	5		5	CTNND1	11	57573377	Silent	SNP	T	TCGA-D7-6520-01A-11D-1800-08	277111	57573377	77433139	46	111430											
OR2AT4	341152	broad.mit.edu	37	chr11	74800481	74800481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagctgaggaagcggtccCcaagcaagaataaggacagc	12	9	0	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:74800481C>T	uc010rro.1	-	1	278	c.278G>A	c.(277-279)GGG>GAG	p.G93E		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAAGCGGTCCCCAAGCAAGAA	0.478													T	74800481	C	T	74800481	3	4	205	1	0	0	0	0	1	0	0	0	10987	623	22	4	687	4	OR2AT4	11	74800481	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	17227104	74800481	60206035	47	111431											
ROBO3	64221	broad.mit.edu	37	chr11	124739005	124739005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagcagcgagcagaaaCgcctcgctggaagtggcagg	18	10	0	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:124739005C>T	uc001qbc.2	+	2	660	c.468C>T	c.(466-468)AAC>AAT	p.N156N		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	156	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	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)		CGAGCAGAAACGCCTCGCTGG	0.652													T	124739005	C	T	124739005	2	4	205	1	0	0	0	0	0	0	0	1	13515	535	19	1		1	ROBO3	11	124739005	Silent	SNP	C	TCGA-D7-6520-01A-11D-1800-08	49938524	124739005	10267511	48	111432											
SNX19	399979	broad.mit.edu	37	chr11	130784675	130784675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctgcctggagtcatgAgcatgatggtttctttgccc	12	9	2	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr11:130784675A>G	uc001qgk.3	-	1	1708	c.1160T>C	c.(1159-1161)CTC>CCC	p.L387P	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.L387P|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	387					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGGAGTCATGAGCATGATGGT	0.512													G	130784675	A	G	130784675	3	3	205	1	0	0	0	0	1	0	0	0	14890	304	11	3	1862	3	SNX19	11	130784675	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08	6045670	130784675	4221841	49	111433											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992095	1992095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttgatgaccatggggcGgctgagcacgtgcaggtatt	17	7	0	3			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:1992095G>A	uc001qjp.2	-	13	1654	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.R363C	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	475	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	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)		ACCATGGGGCGGCTGAGCACG	0.622													A	1992095	G	A	1992095	3	1	205	1	0	0	0	0	1	0	0	0	2551	1116	39	1	2094	1	CACNA2D4	12	1992095	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08		1992095	131859800	50	111434											
VWF	7450	broad.mit.edu	37	chr12	6080794	6080794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagactgggagtccccccGcggtgagccagtcaccacct	13	15	1	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:6080794G>A	uc001qnn.1	-	44	7769	c.7519C>T	c.(7519-7521)CGG>TGG	p.R2507W	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2507	Cell attachment site.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GAGTCCCCCCGCGGTGAGCCA	0.612													A	6080794	G	A	6080794	3	1	205	1	0	0	0	0	1	0	0	0	17243	1086	38	1	958	1	VWF	12	6080794	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	4088699	6080794	127771101	51	111435											
KRT73	319101	broad.mit.edu	37	chr12	53007513	53007513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcggccttgctcttccGggcgatctcctcatactggg	12	15	3	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:53007513G>A	uc001sas.2	-	5	978	c.943C>T	c.(943-945)CGG>TGG	p.R315W		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	315	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCTTCCGGGCGATCTCC	0.592													A	53007513	G	A	53007513	3	1	205	1	0	0	0	0	1	0	0	0	8486	1115	39	1	699	1	KRT73	12	53007513	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	46926719	53007513	80844382	52	111436											
POLR3B	55703	broad.mit.edu	37	chr12	106786900	106786900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccagtctggaagagtGccagaaagctcagattttca	12	9	3	3			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:106786900G>T	uc001tlp.2	+	10	1037	c.815G>T	c.(814-816)TGC>TTC	p.C272F	POLR3B_uc001tlq.2_Missense_Mutation_p.C214F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	272					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			ovary(1)|central_nervous_system(1)	2						CTGGAAGAGTGCCAGAAAGCT	0.468													T	106786900	G	T	106786900	3	4	205	1	0	0	0	0	1	0	0	0	12229	1319	46	5	853	5	POLR3B	12	106786900	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	53779387	106786900	27064995	53	111437											
TMEM119	338773	broad.mit.edu	37	chr12	108985737	108985737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggggcccccggcccggtcActctggtccacgtacttctt	12	17	3	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:108985737A>G	uc001tng.2	-	2	586	c.423T>C	c.(421-423)AGT>AGC	p.S141S	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	141	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						cggcccggTCACTCTGGTCCA	0.552													G	108985737	A	G	108985737	2	3	205	1	0	0	0	0	0	0	0	1	16029	156	6	3		3	TMEM119	12	108985737	Silent	SNP	A	TCGA-D7-6520-01A-11D-1800-08	2198837	108985737	24866158	54	111438											
PIWIL1	9271	broad.mit.edu	37	chr12	130834487	130834487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccgacggctctgaagTcagcttcttagaatactaca	9	10	3	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:130834487T>C	uc001uik.2	+	9	1109	c.1019T>C	c.(1018-1020)GTC>GCC	p.V340A	PIWIL1_uc001uij.1_Missense_Mutation_p.V340A	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	340	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	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)		GGCTCTGAAGTCAGCTTCTTA	0.413													C	130834487	T	C	130834487	3	2	205	1	0	0	0	0	1	0	0	0	11957	1667	58	3	1049	3	PIWIL1	12	130834487	Missense_Mutation	SNP	T	TCGA-D7-6520-01A-11D-1800-08	21848750	130834487	3017408	55	111439											
ZNF268	10795	broad.mit.edu	37	chr12	133764473	133764473	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaggtcccacctctccaaGaacgaaacagttcatgggat	8	13	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr12:133764473G>C	uc010tcf.1	+	3	379	c.49G>C	c.(49-51)GAA>CAA	p.E17Q	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_Intron|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.E17Q	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		ACCTCTCCAAGAACGAAACAG	0.483													C	133764473	G	C	133764473	3	2	205	1	0	0	0	0	1	0	0	0	17804	943	33	5	55	5	ZNF268	12	133764473	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	2929986	133764473	87422	56	111440											
BRCA2	675	broad.mit.edu	37	chr13	32911048	32911048	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaaaggtacaattcaaCcaaaacacaaatctaagagt	5	8	3	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr13:32911048C>G	uc001uub.1	+	11	2783	c.2556C>G	c.(2554-2556)AAC>AAG	p.N852K		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	852	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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		TACAATTCAACCAAAACACAA	0.318			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			G	32911048	C	G	32911048	3	3	205	1	0	0	0	0	1	0	0	0	1499	506	18	5	2594	5	BRCA2	13	32911048	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		32911048	82258830	57	111441											
VPS36	51028	broad.mit.edu	37	chr13	53016581	53016581	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcccagcatcaaattttatCtagaaagaaagagcatcaca	6	9	3	3			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr13:53016581C>G	uc001vgs.2	-	2	131	c.97_splice	c.e2-1	p.I33_splice	VPS36_uc001vgq.2_Splice_Site	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		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;3.14e-08)		CAAATTTTATCTAGAAAGAAA	0.323													G	53016581	C	G	53016581	5	3	205	1	0	0	0	0	0	0	1	0	17201	927	32	5	1116	5	VPS36	13	53016581	Splice_Site	SNP	C	TCGA-D7-6520-01A-11D-1800-08	20105533	53016581	62153297	58	111442											
PCDH17	27253	broad.mit.edu	37	chr13	58208916	58208916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacaactgccgcatcgccGagtacagccacccgcagctg	9	17	0	0			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr13:58208916G>A	uc001vhq.1	+	1	3128	c.2236G>A	c.(2236-2238)GAG>AAG	p.E746K	PCDH17_uc010aec.1_Missense_Mutation_p.E746K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	746	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCATCGCCGAGTACAGCCA	0.557													A	58208916	G	A	58208916	3	1	205	1	0	0	0	0	1	0	0	0	11512	1059	37	1	2238	1	PCDH17	13	58208916	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	5192335	58208916	56960962	59	111443											
NFATC4	4776	broad.mit.edu	37	chr14	24845524	24845524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaaagaggagcccctacCggactcatctctgcggggtt	12	13	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr14:24845524C>T	uc001wpc.2	+	9	2402	c.2081C>T	c.(2080-2082)CCG>CTG	p.P694L	NFATC4_uc010tok.1_Missense_Mutation_p.P757L|NFATC4_uc010tol.1_Missense_Mutation_p.P757L|NFATC4_uc010alr.2_Missense_Mutation_p.P757L|NFATC4_uc010tom.1_Missense_Mutation_p.P707L|NFATC4_uc010ton.1_Missense_Mutation_p.P707L|NFATC4_uc010too.1_Missense_Mutation_p.P707L|NFATC4_uc010alt.2_Missense_Mutation_p.P726L|NFATC4_uc010top.1_Missense_Mutation_p.P726L|NFATC4_uc010toq.1_Missense_Mutation_p.P726L|NFATC4_uc010tor.1_Missense_Mutation_p.P694L|NFATC4_uc010tos.1_Missense_Mutation_p.P624L|NFATC4_uc010tot.1_Missense_Mutation_p.P682L|NFATC4_uc010tou.1_Missense_Mutation_p.P624L|NFATC4_uc010tov.1_Missense_Mutation_p.P682L|NFATC4_uc010tow.1_Missense_Mutation_p.P624L|NFATC4_uc010alv.2_Missense_Mutation_p.P682L|NFATC4_uc010tox.1_Missense_Mutation_p.P624L|NFATC4_uc001wpd.2_Missense_Mutation_p.P229L|NFATC4_uc010toy.1_Missense_Mutation_p.P229L|NFATC4_uc010toz.1_Missense_Mutation_p.P229L|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	694					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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GAGCCCCTACCGGACTCATCT	0.597													T	24845524	C	T	24845524	3	4	205	1	0	0	0	0	1	0	0	0	10365	652	23	1	2308	1	NFATC4	14	24845524	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		24845524	82504016	60	111444											
KCNK13	56659	broad.mit.edu	37	chr14	90650473	90650473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtttgggatgacaactcCggcgacagtaggaggaaaaa	15	6	0	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr14:90650473C>T	uc001xye.1	+	2	795	c.353C>T	c.(352-354)CCG>CTG	p.P118L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	118						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				ATGACAACTCCGGCGACAGTA	0.483													T	90650473	C	T	90650473	3	4	205	1	0	0	0	0	1	0	0	0	8061	652	23	1	359	1	KCNK13	14	90650473	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	65804949	90650473	16699067	61	111445											
TMEM202	338949	broad.mit.edu	37	chr15	72699483	72699483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggttcactggcatactAgggatgccatggagtcagat	12	9	2	1	rs142013465	byFrequency	TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr15:72699483A>G	uc002auq.2	+	4	544	c.544A>G	c.(544-546)AGG>GGG	p.R182G	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	182						integral to membrane				central_nervous_system(1)|skin(1)	2						CTGGCATACTAGGGATGCCAT	0.483													G	72699483	A	G	72699483	3	3	205	1	0	0	0	0	1	0	0	0	16124	411	15	3	558	3	TMEM202	15	72699483	Missense_Mutation	SNP	A	TCGA-D7-6520-01A-11D-1800-08		72699483	29831909	62	111446											
SH3GL3	6457	broad.mit.edu	37	chr15	84245455	84245455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgaagagtcaaaggagTtggctgaaagaagcatgttt	12	3	1	4			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr15:84245455T>G	uc002bjw.2	+	6	781	c.586T>G	c.(586-588)TTG>GTG	p.L196V	SH3GL3_uc010uot.1_Missense_Mutation_p.L196V|SH3GL3_uc002bjx.2_Missense_Mutation_p.L127V|SH3GL3_uc002bju.2_Missense_Mutation_p.L204V|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	196	BAR.|Potential.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						GTCAAAGGAGTTGGCTGAAAG	0.338													G	84245455	T	G	84245455	3	3	205	1	0	0	0	0	1	0	0	0	14252	1722	60	5	608	5	SH3GL3	15	84245455	Missense_Mutation	SNP	T	TCGA-D7-6520-01A-11D-1800-08	11545972	84245455	18285937	63	111447											
TERF2IP	54386	broad.mit.edu	37	chr16	75681861	75681861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgagggacgacggcagCtccatgtccttctacgtgcg	13	12	1	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr16:75681861C>G	uc002fet.1	+	1	178	c.81C>G	c.(79-81)AGC>AGG	p.S27R	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	27					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)	1						ACGACGGCAGCTCCATGTCCT	0.672													G	75681861	C	G	75681861	3	3	205	1	0	0	0	0	1	0	0	0	15760	796	28	5	83	5	TERF2IP	16	75681861	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		75681861	14672892	64	111448											
PELP1	27043	broad.mit.edu	37	chr17	4577819	4577819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctctgagtgcagccGcacacacgtcgctgttggca	10	16	1	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr17:4577819G>A	uc002fyi.3	-	13	1794	c.1568C>T	c.(1567-1569)GCG>GTG	p.A523V	PELP1_uc010vsf.1_Missense_Mutation_p.A376V	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	523					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GAGTGCAGCCGCACACACGTC	0.617													A	4577819	G	A	4577819	3	1	205	1	0	0	0	0	1	0	0	0	11725	1087	38	1	1844	1	PELP1	17	4577819	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08		4577819	76617391	65	111449											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(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*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578406	C	T	7578406	3	4	205	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08	3000587	7578406	73616804	66	111450											
CD300LF	146722	broad.mit.edu	37	chr17	72708985	72708985	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagccagaagaggagcagGtagagtgtcagcaggggcat	18	6	1	4			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr17:72708985G>T	uc002jlg.2	-	1	124	c.21C>A	c.(19-21)TAC>TAA	p.Y7*	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlh.2_Nonsense_Mutation_p.Y7*|CD300LF_uc002jli.2_5'UTR|CD300LF_uc010wra.1_Nonsense_Mutation_p.Y7*	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	7						integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1						AGAGGAGCAGGTAGAGTGTCA	0.597													T	72708985	G	T	72708985	4	4	205	1	0	0	0	0	0	1	0	0	3001	1256	44	5	879	5	CD300LF	17	72708985	Nonsense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	65130579	72708985	8486225	67	111451											
COL5A3	50509	broad.mit.edu	37	chr19	10077045	10077046	+	Frame_Shift_Ins	INS	-	-	A													tcctcccgccgtgaagttgcINSaaaaaaccctgaacgagtcc							TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr19:10077045_10077046insA	uc002mmq.1	-	64	4812_4813	c.4726_4727insT	c.(4726-4728)TGCfs	p.C1576fs		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1576	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CGTGAAGTTGCAAAAAACCCTG	0.604													A	10077046	-	A	10077045	7	5	205	1	0	1	1	0	0	0	0	0	3698	710	25	0	526	0	COL5A3	19	10077045	Frame_Shift_Ins	INS	-	TCGA-D7-6520-01A-11D-1800-08		10077045	49051938	68	111452	525	2									
COL5A3	50509	broad.mit.edu	37	chr19	10077046	10077047	+	Frame_Shift_Ins	INS	-	-	A													cctcccgccgtgaagttgcaINSaaaaaccctgaacgagtccc							TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr19:10077045_10077046C>CA	uc002mmq.1	-	63	4812_4813	c.4726_4727G>TG	c.(4726-4728)tgcfs	p.C1576fs		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1576	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)			CGTGAAGTTGCAAAAAACCCTG	0.604													A	10077047	-	A	10077046	7	5	205	1	0	1	1	0	0	0	0	0	3698	130	5	0	527	0	COL5A3	19	10077046	Frame_Shift_Ins	INS	-	TCGA-D7-6520-01A-11D-1800-08	1	10077046	49051937	69	111453	525	2									
NLRP12	91662	broad.mit.edu	37	chr19	54313731	54313731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatggtgaagagaggctcGttgtccctcacgtaattgaa	11	9	1	3			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr19:54313731G>A	uc002qch.3	-	3	1402	c.1182C>T	c.(1180-1182)AAC>AAT	p.N394N	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.N394N|NLRP12_uc002qcj.3_Silent_p.N394N|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.N394N	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	394	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			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGAGAGGCTCGTTGTCCCTCA	0.557													A	54313731	G	A	54313731	2	1	205	1	0	0	0	0	0	0	0	1	10474	1136	40	1		1	NLRP12	19	54313731	Silent	SNP	G	TCGA-D7-6520-01A-11D-1800-08	44236685	54313731	4815252	70	111454											
CDH22	64405	broad.mit.edu	37	chr20	44845476	44845476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactcactctgcgggaaaCggggcgggttgtcattgacg	14	11	4	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chr20:44845476C>T	uc002xrm.2	-	4	1228	c.827G>A	c.(826-828)CGT>CAT	p.R276H	CDH22_uc010ghk.1_Missense_Mutation_p.R276H|CDH22_uc002xrn.1_Missense_Mutation_p.R27H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	276	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CTGCGGGAAACGGGGCGGGTT	0.612													T	44845476	C	T	44845476	3	4	205	1	0	0	0	0	1	0	0	0	3107	536	19	1	1691	1	CDH22	20	44845476	Missense_Mutation	SNP	C	TCGA-D7-6520-01A-11D-1800-08		44845476	18180044	71	111455											
DMD	1756	broad.mit.edu	37	chrX	32429956	32429956	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaatgtgagggactcctgGattaagtgtaaggatttttc	12	4	0	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chrX:32429956G>A	uc004dda.1	-	30	4390	c.4146C>T	c.(4144-4146)ATC>ATT	p.I1382I	DMD_uc004dcw.2_Silent_p.I38I|DMD_uc004dcx.2_Silent_p.I41I|DMD_uc004dcz.2_Silent_p.I1259I|DMD_uc004dcy.1_Silent_p.I1378I|DMD_uc004ddb.1_Silent_p.I1374I|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1382					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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				GGGACTCCTGGATTAAGTGTA	0.463													A	32429956	G	A	32429956	2	1	205	1	0	0	0	0	0	0	0	1	4580	1164	41	4		4	DMD	23	32429956	Silent	SNP	G	TCGA-D7-6520-01A-11D-1800-08		32429956	122840604	72	111456											
OPHN1	4983	broad.mit.edu	37	chrX	67273626	67273626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttttctcctggaggccGcactttgctgaaactgtcag	11	11	2	1			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chrX:67273626G>A	uc004dww.3	-	22	2479	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	OPHN1_uc011mpg.1_Missense_Mutation_p.R621W	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	729	Pro-rich.				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			ovary(2)	2						CCTGGAGGCCGCACTTTGCTG	0.547													A	67273626	G	A	67273626	3	1	205	1	0	0	0	0	1	0	0	0	10875	1086	38	1	235	1	OPHN1	23	67273626	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	34843670	67273626	87996934	73	111457											
USP26	83844	broad.mit.edu	37	chrX	132161318	132161318	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggattgaaagtagagactGtaacactgcattcatataac	9	6	1	2			TCGA-D7-6520-01A-11D-1800-08	TCGA-D7-6520-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233e55da-1f67-4f09-8563-e0f9292bd47d	c38a0e6a-d67a-491d-80b3-72c40be497e1	g.chrX:132161318G>C	uc010nrm.1	-	6	1401	c.931C>G	c.(931-933)CAG>GAG	p.Q311E	USP26_uc011mvf.1_Missense_Mutation_p.Q311E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	311					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AGTAGAGACTGTAACACTGCA	0.383													C	132161318	G	C	132161318	3	2	205	1	0	0	0	0	1	0	0	0	17054	1386	48	5	1813	5	USP26	23	132161318	Missense_Mutation	SNP	G	TCGA-D7-6520-01A-11D-1800-08	64887692	132161318	23109242	74	111458											
ARID1A	8289	broad.mit.edu	37	chr1	27056214	27056214	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactaacccatactcgcagCaacagggacctccgtcagga	10	14	1	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr1:27056214C>T	uc001bmv.1	+	2	1583	c.1210C>T	c.(1210-1212)CAA>TAA	p.Q404*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q404*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q404*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q21*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	404					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		ATACTCGCAGCAACAGGGACC	0.572			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27056214	C	T	27056214	4	4	206	1	0	0	0	0	0	1	0	0	913	711	25	2	1216	2	ARID1A	1	27056214	Nonsense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		27056214	222194407	1	111459											
PTCH2	8643	broad.mit.edu	37	chr1	45288225	45288225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggccacggtcatggaGgtagtcactctggcaaagct	14	9	3	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr1:45288225G>A	uc010olf.1	-	22	3486	c.3474C>T	c.(3472-3474)ACC>ACT	p.T1158T	PTCH2_uc010olg.1_Silent_p.T856T	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	1158	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CGGTCATGGAGGTAGTCACTC	0.647									Basal_Cell_Nevus_syndrome				A	45288225	G	A	45288225	2	1	206	1	0	0	0	0	0	0	0	1	12731	987	35	4		4	PTCH2	1	45288225	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	18232011	45288225	203962396	2	111460											
LPHN2	23266	broad.mit.edu	37	chr1	82436147	82436147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatattactatgttgctggTtacttgtttcctgccacagt	7	8	0	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr1:82436147T>C	uc001dit.3	+	15	3013	c.2832T>C	c.(2830-2832)GGT>GGC	p.G944G	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.G944G|LPHN2_uc001div.2_Silent_p.G944G|LPHN2_uc009wcd.2_Silent_p.G944G|LPHN2_uc001diw.2_Silent_p.G528G|LPHN2_uc009wce.1_Silent_p.G30G	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	957	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGTTGCTGGTTACTTGTTTC	0.388													C	82436147	T	C	82436147	2	2	206	1	0	0	0	0	0	0	0	1	8916	1712	60	3		3	LPHN2	1	82436147	Silent	SNP	T	TCGA-D7-6521-01A-11D-1800-08	37147922	82436147	166814474	3	111461											
KIF21B	23046	broad.mit.edu	37	chr1	200967659	200967659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcagcttctgcttgatttCgatctcacaagtcaggtcgg	10	10	4	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr1:200967659C>T	uc001gvs.1	-	14	2247	c.1930G>A	c.(1930-1932)GAA>AAA	p.E644K	KIF21B_uc001gvr.1_Missense_Mutation_p.E644K|KIF21B_uc009wzl.1_Missense_Mutation_p.E644K|KIF21B_uc010ppn.1_Missense_Mutation_p.E644K	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	644	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TGCTTGATTTCGATCTCACAA	0.567													T	200967659	C	T	200967659	3	4	206	1	0	0	0	0	1	0	0	0	8289	893	31	1	3028	1	KIF21B	1	200967659	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	118531512	200967659	48282962	4	111462											
LYST	1130	broad.mit.edu	37	chr1	235973499	235973499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttctttggttgctaagcGgtcaagtttagctttggggt	13	6	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr1:235973499G>A	uc001hxj.2	-	5	794	c.619C>T	c.(619-621)CGC>TGC	p.R207C	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R207C	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	207					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GTTGCTAAGCGGTCAAGTTTA	0.413									Chediak-Higashi_syndrome				A	235973499	G	A	235973499	3	1	206	1	0	0	0	0	1	0	0	0	9128	1116	39	1	10982	1	LYST	1	235973499	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	35005840	235973499	13277122	5	111463											
OR2T12	127064	broad.mit.edu	37	chr1	248458186	248458186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcaaaggccttcttgCgggcttctgtagagcgcatg	15	9	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr1:248458186C>T	uc010pzj.1	-	1	695	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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)			GGCCTTCTTGCGGGCTTCTGT	0.522													T	248458186	C	T	248458186	3	4	206	1	0	0	0	0	1	0	0	0	11019	768	27	1	270	1	OR2T12	1	248458186	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	12484687	248458186	792435	6	111464											
C2orf43	60526	broad.mit.edu	37	chr2	20990056	20990056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtctttgggagccaacGcatgcccagcatgactgata	10	11	2	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr2:20990056G>A	uc002rec.2	-	3	290	c.257C>T	c.(256-258)GCG>GTG	p.A86V	C2orf43_uc002rea.1_Missense_Mutation_p.A86V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Missense_Mutation_p.A86V|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	86											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGCCAACGCATGCCCAGC	0.423													A	20990056	G	A	20990056	3	1	206	1	0	0	0	0	1	0	0	0	2167	1087	38	1	740	1	C2orf43	2	20990056	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08		20990056	222209317	7	111465											
LTBP1	4052	broad.mit.edu	37	chr2	33572523	33572523	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctgtgcgtgtgtgctgatGaaaaccaagagtacagcccc	11	11	0	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr2:33572523G>A	uc002ros.2	+	26	3949	c.3949G>A	c.(3949-3951)GAA>AAA	p.E1317K	LTBP1_uc002rot.2_Missense_Mutation_p.E991K|LTBP1_uc002rou.2_Missense_Mutation_p.E990K|LTBP1_uc002rov.2_Missense_Mutation_p.E937K|LTBP1_uc010ymz.1_Missense_Mutation_p.E948K|LTBP1_uc010yna.1_Missense_Mutation_p.E895K|LTBP1_uc010ynb.1_Missense_Mutation_p.E214K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1316	EGF-like 14; 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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGTGCTGATGAAAACCAAGA	0.542													A	33572523	G	A	33572523	3	1	206	1	0	0	0	0	1	0	0	0	9073	1291	45	4	4103	4	LTBP1	2	33572523	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	12582467	33572523	209626850	8	111466											
GALNT5	11227	broad.mit.edu	37	chr2	158167802	158167802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatcctgaaagtagctgCctgtgacccagtgaagccat	10	10	0	4			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr2:158167802C>T	uc002tzg.2	+	10	3020	c.2765C>T	c.(2764-2766)GCC>GTC	p.A922V	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	922	Lumenal (Potential).|Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						AAAGTAGCTGCCTGTGACCCA	0.338													T	158167802	C	T	158167802	3	4	206	1	0	0	0	0	1	0	0	0	6216	739	26	2	2803	2	GALNT5	2	158167802	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	124595279	158167802	85031571	9	111467											
ANKRD44	91526	broad.mit.edu	37	chr2	197987478	197987478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttacaggtcacttctgCgccatggttaatgagcaatg	9	10	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr2:197987478C>T	uc002uuc.2	-	7	756	c.589G>A	c.(589-591)GCA>ACA	p.A197T	ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.A172T|ANKRD44_uc002uub.2_Missense_Mutation_p.A197T|ANKRD44_uc010zgw.1_Missense_Mutation_p.A125T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	197	ANK 6.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCACTTCTGCGCCATGGTTA	0.438													T	197987478	C	T	197987478	3	4	206	1	0	0	0	0	1	0	0	0	672	768	27	1	2325	1	ANKRD44	2	197987478	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	39819676	197987478	45211895	10	111468											
CASP8	841	broad.mit.edu	37	chr2	202137426	202137426	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggagaaggaaagttggacatCctgaaaagagtctgtgccca	13	7	1	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr2:202137426C>A	uc002uxr.1	+	5	686	c.477C>A	c.(475-477)ATC>ATA	p.I159I	CASP8_uc010ftc.1_Silent_p.I159I|CASP8_uc002uxo.1_Silent_p.I159I|CASP8_uc002uxp.1_Silent_p.I191I|CASP8_uc002uxq.1_Silent_p.I159I|CASP8_uc002uxs.1_Silent_p.I159I|CASP8_uc002uxt.1_Silent_p.I218I|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Silent_p.I56I|CASP8_uc002uxv.1_Silent_p.I159I|CASP8_uc002uxw.1_Silent_p.I159I|CASP8_uc002uxy.1_Silent_p.I159I|CASP8_uc002uxx.1_Silent_p.I159I|CASP8_uc010ftf.2_Silent_p.I159I|CASP8_uc010fte.1_Silent_p.I56I	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	159	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|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						AGTTGGACATCCTGAAAAGAG	0.438										HNSCC(4;0.00038)			A	202137426	C	A	202137426	2	1	206	1	0	0	0	0	0	0	0	1	2677	845	30	5		5	CASP8	2	202137426	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	4149948	202137426	41061947	11	111469											
C3orf31	132001	broad.mit.edu	37	chr3	11880697	11880697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctataaaacactcaccGgtttttggagtcgtccagca	8	12	1	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr3:11880697G>A	uc003bwh.2	-	3	652	c.410C>T	c.(409-411)CCG>CTG	p.P137L	C3orf31_uc003bwj.2_Missense_Mutation_p.P137L|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.P137L|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	137					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						aacaCTCACCGGTTTTTGGAG	0.209													A	11880697	G	A	11880697	3	1	206	1	0	0	0	0	1	0	0	0	2221	1130	39	1	560	1	C3orf31	3	11880697	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08		11880697	186141733	12	111470											
RHOA	387	broad.mit.edu	37	chr3	49405963	49405963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcttcctgcccagctgtgtCccacaaagccaactctacct	5	17	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr3:49405963C>A	uc003cwu.2	-	3	451	c.175G>T	c.(175-177)GAC>TAC	p.D59Y	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	59	GTP (By similarity).				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			ovary(2)	2				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)	CCAGCTGTGTCCCACAAAGCC	0.463													A	49405963	C	A	49405963	3	1	206	1	0	0	0	0	1	0	0	0	13331	855	30	5	418	5	RHOA	3	49405963	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	37525266	49405963	148616467	13	111471											
RHOA	387	broad.mit.edu	37	chr3	49412898	49412898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatatctgccacaTagttctcaaacactgtgggc	7	14	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr3:49412898T>G	uc003cwu.2	-	2	401	c.125A>C	c.(124-126)TAT>TCT	p.Y42S	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				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			ovary(2)	2				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)	ATCTGCCACATAGTTCTCAAA	0.433													G	49412898	T	G	49412898	3	3	206	1	0	0	0	0	1	0	0	0	13331	1406	49	5	472	5	RHOA	3	49412898	Missense_Mutation	SNP	T	TCGA-D7-6521-01A-11D-1800-08	6935	49412898	148609532	14	111472											
FAM19A4	151647	broad.mit.edu	37	chr3	68934432	68934432	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaccaatcatttctgccGttccaaaaaattatcgtagc	5	10	2	1	rs76914752	byFrequency	TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr3:68934432G>A	uc003dnh.1	-	2	351	c.-92C>T	c.(-94--90)AACGG>AATGG		FAM19A4_uc003dni.1_Translation_Start_Site	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine							extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		CATTTCTGCCGTTCCAAAAAA	0.333													A	68934432	G	A	68934432	1	1	206	1	0	0	0	0	0	0	0	0	5534	1160	40	1		1	FAM19A4	3	68934432	Translation_Start_Site	SNP	G	TCGA-D7-6521-01A-11D-1800-08	19521534	68934432	129087998	15	111473											
BOC	91653	broad.mit.edu	37	chr3	112998786	112998786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcgtgtacgagaggccCgtggcaggtccttatatcac	14	11	1	1	rs147219655		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr3:112998786C>T	uc003dzx.2	+	13	2757	c.2136C>T	c.(2134-2136)CCC>CCT	p.P712P	BOC_uc003dzy.2_Silent_p.P712P|BOC_uc003dzz.2_Silent_p.P713P|BOC_uc003eab.2_Silent_p.P413P|BOC_uc003eac.2_Silent_p.P27P	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	712	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			ACGAGAGGCCCGTGGCAGGTC	0.627													T	112998786	C	T	112998786	2	4	206	1	0	0	0	0	0	0	0	1	1481	639	23	1		1	BOC	3	112998786	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	44064354	112998786	85023644	16	111474											
SENP2	59343	broad.mit.edu	37	chr3	185335332	185335332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaaatcctaagtagtgCtttcaaattgcgaattactc	8	7	1	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr3:185335332C>T	uc003fpn.2	+	12	1346	c.1175C>T	c.(1174-1176)GCT>GTT	p.A392V	SENP2_uc011brv.1_Missense_Mutation_p.A382V|SENP2_uc011brw.1_Missense_Mutation_p.A205V	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	392					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				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTAAGTAGTGCTTTCAAATTG	0.388													T	185335332	C	T	185335332	3	4	206	1	0	0	0	0	1	0	0	0	14047	797	28	2	1221	2	SENP2	3	185335332	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	72336546	185335332	12687098	17	111475											
PDCL2	132954	broad.mit.edu	37	chr4	56448359	56448359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttaggaggaagaatgcCgaaatctcttaaaatgtcat	8	6	3	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr4:56448359C>T	uc003hbb.2	-	2	155	c.52G>A	c.(52-54)GGC>AGC	p.G18S		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	18											0	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			GGAAGAATGCCGAAATCTCTT	0.338													T	56448359	C	T	56448359	3	4	206	1	0	0	0	0	1	0	0	0	11627	652	23	1	693	1	PDCL2	4	56448359	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		56448359	134705917	18	111476											
ENPEP	2028	broad.mit.edu	37	chr4	111398070	111398070	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcgagtacaaaaagcaggAgtacgtggtggtcgaggcgg	16	6	0	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr4:111398070A>C	uc003iab.3	+	1	842	c.500A>C	c.(499-501)GAG>GCG	p.E167A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	167	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAAAAGCAGGAGTACGTGGTG	0.627													C	111398070	A	C	111398070	3	2	206	1	0	0	0	0	1	0	0	0	5128	304	11	5	502	5	ENPEP	4	111398070	Missense_Mutation	SNP	A	TCGA-D7-6521-01A-11D-1800-08	54949711	111398070	79756206	19	111477											
DNAH5	1767	broad.mit.edu	37	chr5	13885264	13885264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttttcctcgtgactgtCgtcaaaagcagggcattggc	10	10	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr5:13885264C>T	uc003jfd.2	-	19	2859	c.2817G>A	c.(2815-2817)ACG>ACA	p.T939T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	939	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TCGTGACTGTCGTCAAAAGCA	0.418									Kartagener_syndrome				T	13885264	C	T	13885264	2	4	206	1	0	0	0	0	0	0	0	1	4604	871	31	1		1	DNAH5	5	13885264	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08		13885264	167029996	20	111478											
PCDHB3	56132	broad.mit.edu	37	chr5	140481829	140481829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcgagttccgcgtgggCgccacagaccgtggctcccc	14	16	0	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr5:140481829C>T	uc003lio.2	+	1	1596	c.1596C>T	c.(1594-1596)GGC>GGT	p.G532G	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	532	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGTGGGCGCCACAGACC	0.672													T	140481829	C	T	140481829	2	4	206	1	0	0	0	0	0	0	0	1	11543	755	27	1		1	PCDHB3	5	140481829	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	126596565	140481829	40433431	21	111479											
PCDHB7	56129	broad.mit.edu	37	chr5	140554097	140554097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgacaactcgcccttcGtgctgtacccgctgcagaac	8	17	0	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr5:140554097G>A	uc003lit.2	+	1	1855	c.1681G>A	c.(1681-1683)GTG>ATG	p.V561M		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	561	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.731													A	140554097	G	A	140554097	3	1	206	1	0	0	0	0	1	0	0	0	11547	1145	40	1	1683	1	PCDHB7	5	140554097	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	72268	140554097	40361163	22	111480											
PCDHB11	56125	broad.mit.edu	37	chr5	140579705	140579705	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacgcagtttttacaaattGagcttcaggtcagggatata	9	8	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr5:140579705G>A	uc003liy.2	+	1	358	c.358G>A	c.(358-360)GAG>AAG	p.E120K	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	120	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTACAAATTGAGCTTCAGGT	0.463													A	140579705	G	A	140579705	3	1	206	1	0	0	0	0	1	0	0	0	11536	1291	45	4	360	4	PCDHB11	5	140579705	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	25608	140579705	40335555	23	111481											
GMDS	2762	broad.mit.edu	37	chr6	1961067	1961067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtatttcctgcactttcCcataaagttcacttgttgag	9	9	1	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr6:1961067C>T	uc003mtq.2	-	5	669	c.479G>A	c.(478-480)GGG>GAG	p.G160E		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	160					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	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)		CTGCACTTTCCCATAAAGTTC	0.498													T	1961067	C	T	1961067	3	4	206	1	0	0	0	0	1	0	0	0	6486	623	22	4	667	4	GMDS	6	1961067	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		1961067	169154000	24	111482											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017492	26017492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttgccgcaggcttttTagcctttttcggagtcttga	10	10	1	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr6:26017492T>C	uc003nfo.2	-	1	549	c.469A>G	c.(469-471)AAA>GAA	p.K157E		NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	157					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						GCAGGCTTTTTAGCCTTTTTC	0.453													C	26017492	T	C	26017492	3	2	206	1	0	0	0	0	1	0	0	0	7122	1763	61	3	182	3	HIST1H1A	6	26017492	Missense_Mutation	SNP	T	TCGA-D7-6521-01A-11D-1800-08	24056425	26017492	145097575	25	111483											
AKAP12	9590	broad.mit.edu	37	chr6	151670244	151670244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaatctacagagaaacccGaagagaccctgaagcgtgag	10	10	1	4			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr6:151670244G>A	uc011eep.1	+	4	958	c.718G>A	c.(718-720)GAA>AAA	p.E240K	AKAP12_uc003qoe.2_Missense_Mutation_p.E240K|AKAP12_uc003qof.2_Missense_Mutation_p.E142K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.E135K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	240			E -> K (in a colorectal cancer sample; somatic mutation).		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.E240K(1)		large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGAAACCCGAAGAGACCCT	0.557													A	151670244	G	A	151670244	3	1	206	1	0	0	0	0	1	0	0	0	448	1059	37	1	757	1	AKAP12	6	151670244	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	125652752	151670244	19444823	26	111484											
EGFR	1956	broad.mit.edu	37	chr7	55211010	55211010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttagaccatccaggagGtggctggttatgtcctcatt	10	10	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr7:55211010G>A	uc003tqk.2	+	3	499	c.253G>A	c.(253-255)GTG>ATG	p.V85M	EGFR_uc003tqh.2_Missense_Mutation_p.V85M|EGFR_uc003tqi.2_Missense_Mutation_p.V85M|EGFR_uc003tqj.2_Missense_Mutation_p.V85M|EGFR_uc010kzg.1_Missense_Mutation_p.V85M|EGFR_uc011kco.1_Missense_Mutation_p.V32M	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	85	Approximate.|Extracellular (Potential).				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.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	CATCCAGGAGGTGGCTGGTTA	0.448		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211010	G	A	55211010	3	1	206	1	0	0	0	0	1	0	0	0	4967	1261	44	4	263	4	EGFR	7	55211010	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08		55211010	103927653	27	111485											
ZNF479	90827	broad.mit.edu	37	chr7	57187764	57187764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaattctcttgtggtcaGtgagggttgaggataagcta	13	4	2	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr7:57187764G>A	uc010kzo.2	-	5	1629	c.1358C>T	c.(1357-1359)ACT>ATT	p.T453I		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	453	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			CTTGTGGTCAGTGAGGGTTGA	0.428													A	57187764	G	A	57187764	3	1	206	1	0	0	0	0	1	0	0	0	17930	1029	36	4	220	4	ZNF479	7	57187764	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	1976754	57187764	101950899	28	111486											
TRRAP	8295	broad.mit.edu	37	chr7	98550831	98550831	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggacatgctggactcgctGcggatctacctgctgcagta	13	12	1	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr7:98550831G>C	uc003upp.2	+	39	5693	c.5484G>C	c.(5482-5484)CTG>CTC	p.L1828L	TRRAP_uc011kis.1_Silent_p.L1810L|TRRAP_uc003upr.2_Silent_p.L1527L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1828					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			TGGACTCGCTGCGGATCTACC	0.602													C	98550831	G	C	98550831	2	2	206	1	0	0	0	0	0	0	0	1	16598	1306	46	5		5	TRRAP	7	98550831	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	41363067	98550831	60587832	29	111487											
PLXNA4	91584	broad.mit.edu	37	chr7	131878892	131878892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccacgcagatctccacgaAgcctgcatgctggctgggct	12	14	1	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr7:131878892A>G	uc003vra.3	-	14	3014	c.2785T>C	c.(2785-2787)TTC>CTC	p.F929L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	929	IPT/TIG 1.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ATCTCCACGAAGCCTGCATGC	0.582													G	131878892	A	G	131878892	3	3	206	1	0	0	0	0	1	0	0	0	12122	72	3	3	2975	3	PLXNA4	7	131878892	Missense_Mutation	SNP	A	TCGA-D7-6521-01A-11D-1800-08	33328061	131878892	27259771	30	111488											
TRPV6	55503	broad.mit.edu	37	chr7	142569461	142569461	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgaagtgagaacacgcagtCagatctgatattcccagctc	10	11	2	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr7:142569461C>T	uc003wbx.1	-	15	2393	c.2177G>A	c.(2176-2178)TGA>TAA	p.*726*	TRPV6_uc003wbw.1_Silent_p.*512*|TRPV6_uc010lou.1_Silent_p.*597*	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	726					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					AACACGCAGTCAGATCTGATA	0.532													T	142569461	C	T	142569461	2	4	206	1	0	0	0	0	0	0	0	1	16597	837	29	4		4	TRPV6	7	142569461	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	10690569	142569461	16569202	31	111489											
ADRA1A	148	broad.mit.edu	37	chr8	26627887	26627887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaatttccattcacaaaCgccatccgtcttggagatcc	6	12	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr8:26627887C>T	uc003xfh.1	-	2	1616	c.1180G>A	c.(1180-1182)GTT>ATT	p.V394I	ADRA1A_uc003xfc.1_Missense_Mutation_p.V394I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V394I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V394I	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	394	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CATTCACAAACGCCATCCGTC	0.552													T	26627887	C	T	26627887	3	4	206	1	0	0	0	0	1	0	0	0	334	536	19	1	515	1	ADRA1A	8	26627887	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		26627887	119736135	32	111490											
RP1	6101	broad.mit.edu	37	chr8	55539912	55539912	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacaaggctaccaacaaatCttcagaaacacttgcattgt	5	11	3	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr8:55539912C>T	uc003xsd.1	+	4	3618	c.3470C>T	c.(3469-3471)TCT>TTT	p.S1157F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1157					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			skin(7)|ovary(4)|pancreas(1)	12		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)			ACCAACAAATCTTCAGAAACA	0.418													T	55539912	C	T	55539912	3	4	206	1	0	0	0	0	1	0	0	0	13532	913	32	4	3480	4	RP1	8	55539912	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	28912025	55539912	90824110	33	111491											
RUNX1T1	862	broad.mit.edu	37	chr8	93004103	93004103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaggctctctgtcaaagCcattttctttggttctaaag	8	9	4	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr8:93004103C>T	uc003yfd.2	-	6	839	c.755G>A	c.(754-756)GGC>GAC	p.G252D	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G225D|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G215D|RUNX1T1_uc010mao.2_Missense_Mutation_p.G225D|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G263D|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G215D	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	252					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTGTCAAAGCCATTTTCTTT	0.433													T	93004103	C	T	93004103	3	4	206	1	0	0	0	0	1	0	0	0	13747	739	26	2	1083	2	RUNX1T1	8	93004103	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	37464191	93004103	53359919	34	111492											
TAF1L	138474	broad.mit.edu	37	chr9	32630240	32630240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaggattgtctccttcttCgtcactcccagcatcttcct	6	14	4	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr9:32630240C>T	uc003zrg.1	-	1	5428	c.5338G>A	c.(5338-5340)GAA>AAA	p.E1780K		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1780					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTCCTTCTTCGTCACTCCCA	0.453													T	32630240	C	T	32630240	3	4	206	1	0	0	0	0	1	0	0	0	15520	893	31	1	146	1	TAF1L	9	32630240	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		32630240	108583191	35	111493											
PGM5	5239	broad.mit.edu	37	chr9	71002420	71002420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatctatcttaacctccttCggaccatctttgactttcat	3	12	4	1	rs138311393		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr9:71002420C>T	uc004agr.2	+	4	842	c.613C>T	c.(613-615)CGG>TGG	p.R205W		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	205					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			ovary(1)|pancreas(1)	2						TAACCTCCTTCGGACCATCTT	0.428													T	71002420	C	T	71002420	3	4	206	1	0	0	0	0	1	0	0	0	11801	875	31	1	627	1	PGM5	9	71002420	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	38372180	71002420	70211011	36	111494											
SIRT1	23411	broad.mit.edu	37	chr10	69676111	69676111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgacgtcttatcctctAgttcttgtggcagtaacagt	9	8	3	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr10:69676111A>G	uc001jnd.2	+	9	2058	c.2005A>G	c.(2005-2007)AGT>GGT	p.S669G	SIRT1_uc010qis.1_Missense_Mutation_p.S374G|SIRT1_uc009xpp.2_Missense_Mutation_p.S477G|SIRT1_uc001jne.2_Missense_Mutation_p.S366G	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	669					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						CTTATCCTCTAGTTCTTGTGG	0.408													G	69676111	A	G	69676111	3	3	206	1	0	0	0	0	1	0	0	0	14337	420	15	3	2039	3	SIRT1	10	69676111	Missense_Mutation	SNP	A	TCGA-D7-6521-01A-11D-1800-08		69676111	65858636	37	111495											
MYPN	84665	broad.mit.edu	37	chr10	69934039	69934039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtatttcttcccctccacGaacaccaccgcagcaactgt	5	16	1	0	rs71584492		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr10:69934039G>A	uc001jnm.3	+	12	2375	c.2190G>A	c.(2188-2190)ACG>ACA	p.T730T	MYPN_uc001jnn.3_Silent_p.T455T|MYPN_uc001jno.3_Silent_p.T730T|MYPN_uc009xpt.2_Silent_p.T730T|MYPN_uc010qit.1_Silent_p.T436T|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	730						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						TCCCCTCCACGAACACCACCG	0.552													A	69934039	G	A	69934039	2	1	206	1	0	0	0	0	0	0	0	1	10098	1045	37	1		1	MYPN	10	69934039	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	257928	69934039	65600708	38	111496											
RBMXL2	27288	broad.mit.edu	37	chr11	7111052	7111052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accccggggttttgccccctCgcccggagagtacacccacc	10	19	0	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:7111052C>T	uc001mfc.2	+	1	888	c.701C>T	c.(700-702)TCG>TTG	p.S234L		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	234	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTGCCCCCTCGCCCGGAGAG	0.687													T	7111052	C	T	7111052	3	4	206	1	0	0	0	0	1	0	0	0	13154	893	31	1	703	1	RBMXL2	11	7111052	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		7111052	127895464	39	111497											
PDE3B	5140	broad.mit.edu	37	chr11	14808127	14808127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaatgggtgctttctcaGgttcctgtaggccaaagatt	11	8	1	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:14808127G>A	uc001mln.2	+	3	1527	c.1174G>A	c.(1174-1176)GGT>AGT	p.G392S	PDE3B_uc010rcr.1_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	392					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGCTTTCTCAGGTTCCTGTAG	0.448													A	14808127	G	A	14808127	3	1	206	1	0	0	0	0	1	0	0	0	11638	1000	35	4	1184	4	PDE3B	11	14808127	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	7697075	14808127	120198389	40	111498											
PAMR1	25891	broad.mit.edu	37	chr11	35496285	35496285	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggggctcgcagaacctgGccacatcctaagaaaagaag	11	10	0	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:35496285G>T	uc001mwg.2	-	4	430	c.387C>A	c.(385-387)GGC>GGA	p.G129G	PAMR1_uc001mwf.2_Silent_p.G129G|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.G89G	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	129	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GCAGAACCTGGCCACATCCTA	0.448													T	35496285	G	T	35496285	2	4	206	1	0	0	0	0	0	0	0	1	11413	1190	42	5		5	PAMR1	11	35496285	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	20688158	35496285	99510231	41	111499											
SHANK2	22941	broad.mit.edu	37	chr11	70332291	70332291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatggttctgccgggcacGgtggtgggctcgggggcagc	20	10	1	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:70332291G>A	uc001oqc.2	-	21	4185	c.4107C>T	c.(4105-4107)ACC>ACT	p.T1369T	SHANK2_uc010rqn.1_Silent_p.T781T|SHANK2_uc001opz.2_Silent_p.T774T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	990					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCCGGGCACGGTGGTGGGCT	0.622													A	70332291	G	A	70332291	2	1	206	1	0	0	0	0	0	0	0	1	14265	1103	39	1		1	SHANK2	11	70332291	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	34836006	70332291	64674225	42	111500											
FAT3	120114	broad.mit.edu	37	chr11	92430579	92430579	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caacaacttcaaggaaattgGatcgagaacagcaggcagaa	10	8	1	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:92430579G>C	uc001pdj.3	+	3	3654	c.3637G>C	c.(3637-3639)GAT>CAT	p.D1213H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1213	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGGAAATTGGATCGAGAACA	0.378										TCGA Ovarian(4;0.039)			C	92430579	G	C	92430579	3	2	206	1	0	0	0	0	1	0	0	0	5691	1174	41	5	3647	5	FAT3	11	92430579	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	22098288	92430579	42575937	43	111501											
ARHGAP20	57569	broad.mit.edu	37	chr11	110453059	110453059	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caatacctgaggcattctctCtagtgtcacatctcactgaa	6	12	4	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:110453059C>T	uc001pkz.1	-	15	1991	c.1706G>A	c.(1705-1707)AGA>AAA	p.R569K	ARHGAP20_uc001pky.1_Missense_Mutation_p.R546K|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R533K|ARHGAP20_uc001pla.1_Missense_Mutation_p.R533K|ARHGAP20_uc001plb.2_Missense_Mutation_p.R112K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	569					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		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)		GGCATTCTCTCTAGTGTCACA	0.413													T	110453059	C	T	110453059	3	4	206	1	0	0	0	0	1	0	0	0	870	913	32	4	1877	4	ARHGAP20	11	110453059	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	18022480	110453059	24553457	44	111502											
DSCAML1	57453	broad.mit.edu	37	chr11	117389392	117389392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccgtggggggcggggcGcccttggccgcacacatcag	18	13	1	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:117389392G>A	uc001prh.1	-	7	1481	c.1479C>T	c.(1477-1479)GGC>GGT	p.G493G	DSCAML1_uc001pri.1_Silent_p.G297G	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	433	Extracellular (Potential).|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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GGGGCGGGGCGCCCTTGGCCG	0.672													A	117389392	G	A	117389392	2	1	206	1	0	0	0	0	0	0	0	1	4769	1074	38	1		1	DSCAML1	11	117389392	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	6936333	117389392	17617124	45	111503											
SNX19	399979	broad.mit.edu	37	chr11	130784835	130784835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaatctccctctacagcttCgtggccttcttcaacctctg	5	16	5	0	rs143532789		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr11:130784835C>T	uc001qgk.3	-	1	1548	c.1000G>A	c.(1000-1002)GAA>AAA	p.E334K	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E334K|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	334					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCTACAGCTTCGTGGCCTTCT	0.502													T	130784835	C	T	130784835	3	4	206	1	0	0	0	0	1	0	0	0	14890	893	31	1	2022	1	SNX19	11	130784835	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	13395443	130784835	4221681	46	111504											
TROAP	10024	broad.mit.edu	37	chr12	49724178	49724178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccacagccctgccctcCggcagagcctgggcccccag	12	19	0	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr12:49724178C>T	uc001rtx.3	+	13	1717	c.1550C>T	c.(1549-1551)CCG>CTG	p.P517L	TROAP_uc009zlh.2_Missense_Mutation_p.P517L|TROAP_uc001rty.2_Missense_Mutation_p.P225L	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	517	Cys-rich.|4 X 33 AA approximate tandem repeats.|1.				cell adhesion	cytoplasm				ovary(1)	1						CCCTGCCCTCCGGCAGAGCCT	0.602													T	49724178	C	T	49724178	3	4	206	1	0	0	0	0	1	0	0	0	16572	652	23	1	1698	1	TROAP	12	49724178	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		49724178	84127717	47	111505											
NAP1L1	4673	broad.mit.edu	37	chr12	76449896	76449896	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttggggtcttctttttcttCatcttttttctcatcttcaa	4	9	8	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr12:76449896C>A	uc001sxw.2	-	7	887	c.475G>T	c.(475-477)GAA>TAA	p.E159*	NAP1L1_uc001sxv.2_Nonsense_Mutation_p.E117*|NAP1L1_uc001sxz.2_Nonsense_Mutation_p.E90*|NAP1L1_uc001sxx.2_Nonsense_Mutation_p.E159*|NAP1L1_uc001sxy.2_Nonsense_Mutation_p.E96*|NAP1L1_uc010sty.1_Nonsense_Mutation_p.E116*|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Nonsense_Mutation_p.E159*|NAP1L1_uc001syb.2_Nonsense_Mutation_p.E159*|NAP1L1_uc001sya.2_Nonsense_Mutation_p.E117*|NAP1L1_uc001syc.2_Nonsense_Mutation_p.E170*	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	159					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				TCTTTTTCTTCATCTTTTTTC	0.308													A	76449896	C	A	76449896	4	1	206	1	0	0	0	0	0	1	0	0	10156	835	29	5	736	5	NAP1L1	12	76449896	Nonsense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	26725718	76449896	57401999	48	111506											
HAL	3034	broad.mit.edu	37	chr12	96377755	96377755	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaatgctattgtatcattCaccacaccatggacctaaaa	4	11	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr12:96377755C>T	uc001tem.1	-	15	1518	c.1221G>A	c.(1219-1221)GTG>GTA	p.V407V	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.V199V|HAL_uc010sux.1_Silent_p.V407V	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	407					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	TTGTATCATTCACCACACCAT	0.323													T	96377755	C	T	96377755	2	4	206	1	0	0	0	0	0	0	0	1	6947	813	29	4		4	HAL	12	96377755	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	19927859	96377755	37474140	49	111507											
WSCD2	9671	broad.mit.edu	37	chr12	108641966	108641966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggagagccagaaggAtggcaacttcaagcgctcag	14	9	2	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr12:108641966A>G	uc001tms.2	+	9	2288	c.1544A>G	c.(1543-1545)GAT>GGT	p.D515G	WSCD2_uc001tmt.2_Missense_Mutation_p.D515G|WSCD2_uc001tmu.2_Missense_Mutation_p.D283G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	515						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AGCCAGAAGGATGGCAACTTC	0.592													G	108641966	A	G	108641966	3	3	206	1	0	0	0	0	1	0	0	0	17404	333	12	3	1574	3	WSCD2	12	108641966	Missense_Mutation	SNP	A	TCGA-D7-6521-01A-11D-1800-08	12264211	108641966	25209929	50	111508											
OAS3	4940	broad.mit.edu	37	chr12	113379558	113379558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtctgagactcacgtttCctgagcagagcgtgcctggg	14	11	2	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr12:113379558C>T	uc001tug.2	+	2	448	c.361C>T	c.(361-363)CCT>TCT	p.P121S	OAS3_uc001tue.2_Missense_Mutation_p.P121S|OAS3_uc001tuf.2_Missense_Mutation_p.P121S	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	121	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			central_nervous_system(1)	1						ACTCACGTTTCCTGAGCAGAG	0.607													T	113379558	C	T	113379558	3	4	206	1	0	0	0	0	1	0	0	0	10801	855	30	4	367	4	OAS3	12	113379558	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	4737592	113379558	20472337	51	111509											
FLT1	2321	broad.mit.edu	37	chr13	29001982	29001982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcatcctcttcagttaCgtccttgataattaacgagt	6	12	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr13:29001982C>T	uc001usb.3	-	9	1468	c.1183G>A	c.(1183-1185)GTA>ATA	p.V395I	FLT1_uc010aar.1_Missense_Mutation_p.V395I|FLT1_uc001usc.3_Missense_Mutation_p.V395I|FLT1_uc010tdp.1_Missense_Mutation_p.V395I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	395	Ig-like C2-type 4.|Extracellular (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	TCTTCAGTTACGTCCTTGATA	0.388													T	29001982	C	T	29001982	3	4	206	1	0	0	0	0	1	0	0	0	5941	536	19	1	3184	1	FLT1	13	29001982	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		29001982	86167896	52	111510											
TRPC4	7223	broad.mit.edu	37	chr13	38211356	38211356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcctgcagcctgttgaCgagcaacttcttctgaaaca	10	11	2	2	rs142683062	byFrequency	TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr13:38211356C>T	uc001uws.2	-	11	2853	c.2618G>A	c.(2617-2619)CGT>CAT	p.R873H	TRPC4_uc010abv.2_Missense_Mutation_p.R453H|TRPC4_uc001uwt.2_Missense_Mutation_p.R789H|TRPC4_uc010tey.1_Missense_Mutation_p.R732H|TRPC4_uc010abw.2_Missense_Mutation_p.R700H|TRPC4_uc010abx.2_Missense_Mutation_p.R878H|TRPC4_uc010aby.2_Missense_Mutation_p.R724H	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	873	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|breast(1)	6				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)		AGCCTGTTGACGAGCAACTTC	0.428													T	38211356	C	T	38211356	3	4	206	1	0	0	0	0	1	0	0	0	16577	536	19	1	319	1	TRPC4	13	38211356	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	9209374	38211356	76958522	53	111511											
DAOA	267012	broad.mit.edu	37	chr13	106119489	106119489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactctctaaactctatTggtatgttactctttatctt	4	8	4	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr13:106119489T>G	uc001vqb.2	+	2	406	c.132T>G	c.(130-132)ATT>ATG	p.I44M	DAOA_uc010tjf.1_Translation_Start_Site|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Translation_Start_Site|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	44						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAAACTCTATTGGTATGTTAC	0.284													G	106119489	T	G	106119489	3	3	206	1	0	0	0	0	1	0	0	0	4232	1826	63	5	138	5	DAOA	13	106119489	Missense_Mutation	SNP	T	TCGA-D7-6521-01A-11D-1800-08	67908133	106119489	9050389	54	111512											
NPAS3	64067	broad.mit.edu	37	chr14	33684530	33684530	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcgacaaggcatccatcattCgacttacaattagctatctg	6	11	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr14:33684530C>A	uc001wru.2	+	3	347	c.283C>A	c.(283-285)CGA>AGA	p.R95R	NPAS3_uc001wrs.2_Silent_p.R65R|NPAS3_uc001wrt.2_Silent_p.R65R|NPAS3_uc001wrv.2_Silent_p.R65R|NPAS3_uc001wrw.2_5'UTR	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	95	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		ATCCATCATTCGACTTACAAT	0.493													A	33684530	C	A	33684530	2	1	206	1	0	0	0	0	0	0	0	1	10564	876	31	5		5	NPAS3	14	33684530	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08		33684530	73665010	55	111513											
DACT1	51339	broad.mit.edu	37	chr14	59113725	59113725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagactctgcccattcaaaCggtaacggccccagaccttc	7	17	2	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr14:59113725C>T	uc001xdw.2	+	4	2548	c.2384C>T	c.(2383-2385)ACG>ATG	p.T795M	DACT1_uc010trv.1_Missense_Mutation_p.T514M|DACT1_uc001xdx.2_Missense_Mutation_p.T758M|DACT1_uc010trw.1_Missense_Mutation_p.T514M	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	795					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCCATTCAAACGGTAACGGCC	0.537													T	59113725	C	T	59113725	3	4	206	1	0	0	0	0	1	0	0	0	4222	536	19	1	2398	1	DACT1	14	59113725	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	25429195	59113725	48235815	56	111514											
EVL	51466	broad.mit.edu	37	chr14	100595908	100595908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcctcagccagaagaCgcatctggaggctccagtcc	9	14	2	2	rs145112596	byFrequency	TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr14:100595908C>T	uc001ygt.2	+	7	959	c.720C>T	c.(718-720)GAC>GAT	p.D240D	EVL_uc001ygv.2_Silent_p.D246D|EVL_uc001ygu.2_Silent_p.D242D|EVL_uc010avu.2_Silent_p.D99D	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	240	EVH2.|EVH2 block A.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				AGCCAGAAGACGCATCTGGAG	0.587													T	100595908	C	T	100595908	2	4	206	1	0	0	0	0	0	0	0	1	5291	535	19	1		1	EVL	14	100595908	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	41482183	100595908	6753632	57	111515											
TGM7	116179	broad.mit.edu	37	chr15	43577123	43577123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggaaattggaaacaacaCgggttggaacacctaagcat	10	8	0	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr15:43577123C>T	uc001zrf.1	-	7	898	c.893G>A	c.(892-894)CGT>CAT	p.R298H		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	298					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGAAACAACACGGGTTGGAAC	0.413													T	43577123	C	T	43577123	3	4	206	1	0	0	0	0	1	0	0	0	15832	536	19	1	1267	1	TGM7	15	43577123	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		43577123	58954269	58	111516											
CLK3	1198	broad.mit.edu	37	chr15	74912538	74912538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactgccacaaacgccGcaccaggtcttgtagcagcg	9	17	1	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr15:74912538G>A	uc010uln.1	+	3	1246	c.785G>A	c.(784-786)CGC>CAC	p.R262H	CLK3_uc002ayg.3_Missense_Mutation_p.R114H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R262H|CLK3_uc002ayj.3_Missense_Mutation_p.R114H|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	262	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						CACAAACGCCGCACCAGGTCT	0.617													A	74912538	G	A	74912538	3	1	206	1	0	0	0	0	1	0	0	0	3538	1087	38	1	795	1	CLK3	15	74912538	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	31335415	74912538	27618854	59	111517											
LYRM1	57149	broad.mit.edu	37	chr16	20926917	20926917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtccttggcctctacCgcagcattttcaggcttgcg	10	12	2	1	rs149175521	byFrequency	TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr16:20926917C>T	uc010bwj.2	+	2	341	c.40C>T	c.(40-42)CGC>TGC	p.R14C	LYRM1_uc010bwi.1_RNA|LYRM1_uc010bwk.2_Intron|LYRM1_uc002dia.3_Missense_Mutation_p.R14C|LYRM1_uc010bwl.2_Missense_Mutation_p.R14C|LYRM1_uc010bwm.2_Intron|LYRM1_uc002dib.2_Missense_Mutation_p.R14C	NM_020424	NP_065157	O43325	LYRM1_HUMAN	LYR motif containing 1	14						nucleus					0						TGGCCTCTACCGCAGCATTTT	0.463													T	20926917	C	T	20926917	3	4	206	1	0	0	0	0	1	0	0	0	9119	652	23	1	42	1	LYRM1	16	20926917	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		20926917	69427836	60	111518											
RANBP10	57610	broad.mit.edu	37	chr16	67762350	67762350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcaccattaacaatgcGtgtggacatgcttcctagca	10	10	0	0	rs146349352		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr16:67762350G>A	uc002eud.2	-	11	1533	c.1417C>T	c.(1417-1419)CGC>TGC	p.R473C	RANBP10_uc010ceo.2_Missense_Mutation_p.R244C|RANBP10_uc010vju.1_Missense_Mutation_p.R447C|RANBP10_uc010vjv.1_Missense_Mutation_p.R386C|RANBP10_uc010vjw.1_Missense_Mutation_p.R164C	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	473										ovary(1)	1		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)		TTAACAATGCGTGTGGACATG	0.587													A	67762350	G	A	67762350	3	1	206	1	0	0	0	0	1	0	0	0	13026	1145	40	1	461	1	RANBP10	16	67762350	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	46835433	67762350	22592403	61	111519											
DDX28	55794	broad.mit.edu	37	chr16	68056517	68056517	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcggggataggaagggagtCcaggcttggctggcccaaga	18	9	0	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr16:68056517C>G	uc002evh.1	-	1	1443	c.589G>C	c.(589-591)GAC>CAC	p.D197H	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	197	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GGAAGGGAGTCCAGGCTTGGC	0.657													G	68056517	C	G	68056517	3	3	206	1	0	0	0	0	1	0	0	0	4355	855	30	5	1037	5	DDX28	16	68056517	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	294167	68056517	22298236	62	111520											
ADAMTS18	170692	broad.mit.edu	37	chr16	77387771	77387771	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcatccactagacacccCgcctgaggtgtgctgtaatg	11	13	1	2	rs148669189		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr16:77387771C>A	uc002ffc.3	-	10	1892	c.1473G>T	c.(1471-1473)GCG>GCT	p.A491A	ADAMTS18_uc010chc.1_Silent_p.A79A|ADAMTS18_uc002ffe.1_Silent_p.A187A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	491	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTAGACACCCCGCCTGAGGTG	0.418													A	77387771	C	A	77387771	2	1	206	1	0	0	0	0	0	0	0	1	263	639	23	5		5	ADAMTS18	16	77387771	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	9331254	77387771	12966982	63	111521											
TP53	7157	broad.mit.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	14	8	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:7578526C>T	uc002gim.2	-	5	598	c.404G>A	c.(403-405)TGC>TAC	p.C135Y	TP53_uc002gig.1_Missense_Mutation_p.C135Y|TP53_uc002gih.2_Missense_Mutation_p.C135Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3Y|TP53_uc010cng.1_Missense_Mutation_p.C3Y|TP53_uc002gii.1_Missense_Mutation_p.C3Y|TP53_uc010cnh.1_Missense_Mutation_p.C135Y|TP53_uc010cni.1_Missense_Mutation_p.C135Y|TP53_uc002gij.2_Missense_Mutation_p.C135Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42Y|TP53_uc002gio.2_Missense_Mutation_p.C3Y|TP53_uc010vug.1_Missense_Mutation_p.C96Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	135	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(51)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C42Y(1)|p.C3Y(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGCCAGTTGGCAAAACATCTT	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578526	C	T	7578526	3	4	206	1	0	0	0	0	1	0	0	0	16378	710	25	2	894	2	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		7578526	73616684	64	111522											
MYH1	4619	broad.mit.edu	37	chr17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgcacatggcctgggttCgggtaatcagctgggccagc	14	12	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:10408543C>T	uc002gmo.2	-	21	2466	c.2372G>A	c.(2371-2373)CGA>CAA	p.R791Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GGCCTGGGTTCGGGTAATCAG	0.458													T	10408543	C	T	10408543	3	4	206	1	0	0	0	0	1	0	0	0	10029	884	31	1	3527	1	MYH1	17	10408543	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	2830017	10408543	70786667	65	111523											
ZSWIM7	125150	broad.mit.edu	37	chr17	15890590	15890590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacttctacctggtaaacaCgccttccactgggtgatgag	10	11	1	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:15890590C>T	uc002gpe.2	-	3	289	c.191G>A	c.(190-192)CGT>CAT	p.R64H	ZSWIM7_uc002gpf.2_Missense_Mutation_p.R64H|ZSWIM7_uc002gpg.2_RNA	NM_001042698	NP_001036163	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	64					DNA recombination|DNA repair	nucleus	zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		CTGGTAAACACGCCTTCCACT	0.468													T	15890590	C	T	15890590	3	4	206	1	0	0	0	0	1	0	0	0	18242	536	19	1	243	1	ZSWIM7	17	15890590	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	5482047	15890590	65304620	66	111524											
FAM83G	644815	broad.mit.edu	37	chr17	18882956	18882956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccgaccgcgtgaagaactCagttcccccgctgctccgca	10	17	1	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:18882956C>T	uc002guw.2	-	4	888	c.721G>A	c.(721-723)GAG>AAG	p.E241K	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	241										ovary(1)|central_nervous_system(1)	2						GTGAAGAACTCAGTTCCCCCG	0.582													T	18882956	C	T	18882956	3	4	206	1	0	0	0	0	1	0	0	0	5639	835	29	4	1762	4	FAM83G	17	18882956	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	2992366	18882956	62312254	67	111525											
GOSR2	9570	broad.mit.edu	37	chr17	45009523	45009523	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgcaagggagcagcaggaGagacagcgagaagagcttct	15	8	1	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:45009523G>A	uc002ila.2	+	4	367	c.294G>A	c.(292-294)GAG>GAA	p.E98E	GOSR2_uc010wkh.1_Silent_p.E98E|GOSR2_uc002iky.2_Silent_p.E98E|GOSR2_uc002ikz.2_Silent_p.E98E	NM_004287	NP_004278	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2 isoform A	98	Cytoplasmic (Potential).|Potential.				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(9;0.102)			AGCAGCAGGAGAGACAGCGAG	0.567													A	45009523	G	A	45009523	2	1	206	1	0	0	0	0	0	0	0	1	6578	933	33	4		4	GOSR2	17	45009523	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	26126567	45009523	36185687	68	111526											
DLX3	1747	broad.mit.edu	37	chr17	48069062	48069062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgggggcagctgactgCgggcaggggccggagtggag	24	9	0	1	rs138972403		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:48069062C>T	uc002ipy.2	-	3	909	c.683G>A	c.(682-684)CGC>CAC	p.R228H		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CAGCTGACTGCGGGCAGGGGC	0.637													T	48069062	C	T	48069062	3	4	206	1	0	0	0	0	1	0	0	0	4572	768	27	1	184	1	DLX3	17	48069062	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	3059539	48069062	33126148	69	111527											
COX11	1353	broad.mit.edu	37	chr17	53042077	53042077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatatttctgtttgctgaGgtctaaagttccactggaga	9	7	2	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:53042077G>A	uc010wng.1	-	2	560	c.503C>T	c.(502-504)CCT>CTT	p.P168L	COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.P168L	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	COX11 homolog, cytochrome c oxidase assembly	168	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			ovary(1)	1						TGTTTGCTGAGGTCTAAAGTT	0.343													A	53042077	G	A	53042077	3	1	206	1	0	0	0	0	1	0	0	0	3763	1000	35	4	405	4	COX11	17	53042077	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	4973015	53042077	28153133	70	111528											
PRKCA	5578	broad.mit.edu	37	chr17	64770166	64770166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatggcgtcctgttgtAtgaaatgcttgccgggcagg	15	9	0	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:64770166A>G	uc002jfp.1	+	14	1630	c.1586A>G	c.(1585-1587)TAT>TGT	p.Y529C	PRKCA_uc002jfo.1_Missense_Mutation_p.Y400C	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	529	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			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GTCCTGTTGTATGAAATGCTT	0.428													G	64770166	A	G	64770166	3	3	206	1	0	0	0	0	1	0	0	0	12507	449	16	3	1640	3	PRKCA	17	64770166	Missense_Mutation	SNP	A	TCGA-D7-6521-01A-11D-1800-08	11728089	64770166	16425044	71	111529											
RECQL5	9400	broad.mit.edu	37	chr17	73627718	73627718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggcaggcagcgcatccccGaagtacttggcaatggcggc	14	13	0	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:73627718G>A	uc010dgl.2	-	9	1416	c.1260C>T	c.(1258-1260)TTC>TTT	p.F420F	RECQL5_uc010dgk.2_Silent_p.F393F|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	420					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			GCGCATCCCCGAAGTACTTGG	0.697								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	73627718	G	A	73627718	2	1	206	1	0	0	0	0	0	0	0	1	13203	1049	37	1		1	RECQL5	17	73627718	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	8857552	73627718	7567492	72	111530											
CCDC40	55036	broad.mit.edu	37	chr17	78013951	78013951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggcttccagcaagaggCcaccggtccaccagaatcca	9	16	0	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr17:78013951C>T	uc010dht.2	+	3	461	c.434C>T	c.(433-435)GCC>GTC	p.A145V	CCDC40_uc010wub.1_Missense_Mutation_p.A145V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	145					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGCAAGAGGCCACCGGTCCA	0.597													T	78013951	C	T	78013951	3	4	206	1	0	0	0	0	1	0	0	0	2812	739	26	2	444	2	CCDC40	17	78013951	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	4386233	78013951	3181259	73	111531											
SALL3	27164	broad.mit.edu	37	chr18	76752182	76752182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgagttcttcaagtgggCggacttcctggagcaccagc	13	13	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr18:76752182C>A	uc002lmt.2	+	2	191	c.191C>A	c.(190-192)GCG>GAG	p.A64E	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		TTCAAGTGGGCGGACTTCCTG	0.711													A	76752182	C	A	76752182	3	1	206	1	0	0	0	0	1	0	0	0	13812	768	27	5	197	5	SALL3	18	76752182	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		76752182	1325066	74	111532											
KCNN1	3780	broad.mit.edu	37	chr19	18092786	18092786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaatcttcacggacgcctCgagccgcagcatcggggccc	11	16	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr19:18092786C>T	uc002nht.2	+	5	1077	c.767C>T	c.(766-768)TCG>TTG	p.S256L	KCNN1_uc010xqa.1_Missense_Mutation_p.S256L	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	256					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						ACGGACGCCTCGAGCCGCAGC	0.612													T	18092786	C	T	18092786	3	4	206	1	0	0	0	0	1	0	0	0	8078	893	31	1	777	1	KCNN1	19	18092786	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		18092786	41036197	75	111533											
ZNF675	171392	broad.mit.edu	37	chr19	23844925	23844925	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctcacttacctgggggttCattcaccatctcatgtctct	6	13	5	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr19:23844925C>T	uc002nri.2	-	3	399	c.217G>A	c.(217-219)GAA>AAA	p.E73K		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	73	KRAB.				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			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTGGGGGTTCATTCACCATC	0.418													T	23844925	C	T	23844925	3	4	206	1	0	0	0	0	1	0	0	0	18079	835	29	4	1497	4	ZNF675	19	23844925	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	5752139	23844925	35284058	76	111534											
APLP1	333	broad.mit.edu	37	chr19	36363501	36363501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggaggagcgtaggatgCgccagattaatgaggtgata	15	6	0	3			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr19:36363501C>T	uc002oce.2	+	7	1105	c.967C>T	c.(967-969)CGC>TGC	p.R323C	APLP1_uc010xsz.1_Missense_Mutation_p.R284C|APLP1_uc002ocf.2_Missense_Mutation_p.R323C|APLP1_uc002ocg.2_Missense_Mutation_p.R226C|APLP1_uc010xta.1_Missense_Mutation_p.R317C	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	323	Heparin-binding (By similarity).|Extracellular (Potential).				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			ovary(2)	2	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)			GCGTAGGATGCGCCAGATTAA	0.537													T	36363501	C	T	36363501	3	4	206	1	0	0	0	0	1	0	0	0	778	768	27	1	993	1	APLP1	19	36363501	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	12518576	36363501	22765482	77	111535											
ZNF329	79673	broad.mit.edu	37	chr19	58640848	58640850	+	In_Frame_Del	DEL	CGA	CGA	-													cttctctctcaggaaaattcCgagtcgtcattttcaatctc							TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr19:58640847_58640849CCGA>C	uc002qrn.3	-	3	259_261	c.22_24TCGG>G	c.(22-24)cgg>G	p.R8del	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_In_Frame_Del_p.R8del	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R8W(2)		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)		CAGGAAAATTCCGAGTCGTCATT	0.399													-	58640850	CGA	-	58640848	7	5	206	1	0	1	0	1	0	0	0	0	17844	652	23	0	1606	0	ZNF329	19	58640848	In_Frame_Del	DEL	CGA	TCGA-D7-6521-01A-11D-1800-08	22277347	58640848	488135	78	111536											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146981	3146981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacgacaggcttgaaggccGacggccgaactagtggttct	14	10	1	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr20:3146981G>A	uc002wia.1	-	2	1883	c.485C>T	c.(484-486)TCG>TTG	p.S162L	ProSAPiP1_uc002wib.1_Missense_Mutation_p.S162L	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	162						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CTTGAAGGCCGACGGCCGAAC	0.627													A	3146981	G	A	3146981	3	1	206	1	0	0	0	0	1	0	0	0	12870	1059	37	1	1544	1	ProSAPiP1	20	3146981	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08		3146981	59878539	79	111537											
JAG1	182	broad.mit.edu	37	chr20	10626625	10626625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtggcagactcactggtttCacagtaggccccctcccagc	10	15	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr20:10626625C>T	uc002wnw.2	-	15	2509	c.1993G>A	c.(1993-1995)GAA>AAA	p.E665K	JAG1_uc010gcd.1_Missense_Mutation_p.E223K	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	665	Extracellular (Potential).|EGF-like 11; 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			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TCACTGGTTTCACAGTAGGCC	0.512									Alagille_Syndrome				T	10626625	C	T	10626625	3	4	206	1	0	0	0	0	1	0	0	0	7934	835	29	4	1711	4	JAG1	20	10626625	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	7479644	10626625	52398895	80	111538											
C20orf26	26074	broad.mit.edu	37	chr20	20144800	20144800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagagcccgtccacttccGccccatctacaggggagcct	10	16	1	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr20:20144800G>A	uc002wru.2	+	11	1209	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	C20orf26_uc010gcw.1_Missense_Mutation_p.R332H|C20orf26_uc010zse.1_Missense_Mutation_p.R378H|C20orf26_uc010zsf.1_Missense_Mutation_p.R378H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	378										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		GTCCACTTCCGCCCCATCTAC	0.498													A	20144800	G	A	20144800	3	1	206	1	0	0	0	0	1	0	0	0	2106	1087	38	1	1171	1	C20orf26	20	20144800	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	9518175	20144800	42880720	81	111539											
C20orf185	359710	broad.mit.edu	37	chr20	31644485	31644485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggaggggtttttggcGttgtcgaggagctctctggg	18	8	1	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr20:31644485G>A	uc002wym.1	+	2	262	c.262G>A	c.(262-264)GTT>ATT	p.V88I		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	88	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						GGTTTTTGGCGTTGTCGAGGA	0.577													A	31644485	G	A	31644485	3	1	206	1	0	0	0	0	1	0	0	0	2097	1145	40	1	268	1	C20orf185	20	31644485	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	11499685	31644485	31381035	82	111540											
CYP24A1	1591	broad.mit.edu	37	chr20	52773733	52773733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtattatcgctggcaaaaCgcgatggggagttcccggct	14	10	0	0	rs150155645		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr20:52773733C>T	uc002xwv.2	-	11	1928	c.1530G>A	c.(1528-1530)GCG>GCA	p.A510A	CYP24A1_uc002xwu.1_Silent_p.A368A|CYP24A1_uc002xww.2_Silent_p.A444A	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	510					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCTGGCAAAACGCGATGGGGA	0.428													T	52773733	C	T	52773733	2	4	206	1	0	0	0	0	0	0	0	1	4154	523	19	1		1	CYP24A1	20	52773733	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	21129248	52773733	10251787	83	111541											
OLIG2	10215	broad.mit.edu	37	chr21	34399178	34399178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcccctggggccatggactCggacgccagcctggtgtcca	13	15	0	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr21:34399178C>T	uc002yqx.1	+	2	166	c.8C>T	c.(7-9)TCG>TTG	p.S3L		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	3						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GCCATGGACTCGGACGCCAGC	0.582			T	TRA@	T-ALL								T	34399178	C	T	34399178	3	4	206	1	0	0	0	0	1	0	0	0	10861	893	31	1	10	1	OLIG2	21	34399178	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		34399178	13730717	84	111542											
DIP2A	23181	broad.mit.edu	37	chr21	47918652	47918652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccacctcatctcacccGggagggagacccaccactgc	8	19	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr21:47918652G>A	uc002zjo.2	+	5	744	c.561G>A	c.(559-561)CCG>CCA	p.P187P	DIP2A_uc011afy.1_Silent_p.P123P|DIP2A_uc011afz.1_Silent_p.P187P|DIP2A_uc002zjl.2_Silent_p.P187P|DIP2A_uc002zjm.2_Silent_p.P187P|DIP2A_uc010gql.2_Silent_p.P187P|DIP2A_uc002zjn.2_Silent_p.P187P	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	187					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		CATCTCACCCGGGAGGGAGAC	0.672													A	47918652	G	A	47918652	2	1	206	1	0	0	0	0	0	0	0	1	4527	1103	39	1		1	DIP2A	21	47918652	Silent	SNP	G	TCGA-D7-6521-01A-11D-1800-08	13519474	47918652	211243	85	111543											
SNAP29	9342	broad.mit.edu	37	chr22	21224688	21224688	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtggacaagatggaccaaGatttgaagatcagccagaaa	12	6	1	5			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr22:21224688G>A	uc011ahw.1	+	2	408	c.301G>A	c.(301-303)GAT>AAT	p.D101N		NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	101	Potential.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			GATGGACCAAGATTTGAAGAT	0.507													A	21224688	G	A	21224688	3	1	206	1	0	0	0	0	1	0	0	0	14831	942	33	4	307	4	SNAP29	22	21224688	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08		21224688	30079878	86	111544											
CBX6	23466	broad.mit.edu	37	chr22	39262882	39262882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccccggccccctgccCggcgcccccgccgccagcgc	12	26	0	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chr22:39262882C>T	uc003awl.2	-	5	634	c.571G>A	c.(571-573)GGG>AGG	p.G191R		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	191					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					gccccctgcccggcgcccccg	0.453													T	39262882	C	T	39262882	3	4	206	1	0	0	0	0	1	0	0	0	2722	652	23	1	671	1	CBX6	22	39262882	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	18038194	39262882	12041684	87	111545											
PHEX	5251	broad.mit.edu	37	chrX	22263519	22263519	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggtgctcacagtccccctCagtttaggtaaatgggcaaa	10	10	2	0			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chrX:22263519C>T	uc004dah.2	+	21	2343	c.2140C>T	c.(2140-2142)CAG>TAG	p.Q714*	PHEX_uc011mjr.1_Intron|PHEX_uc011mjs.1_Nonsense_Mutation_p.Q617*	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	714					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						CAGTCCCCCTCAGTTTAGGTA	0.512													T	22263519	C	T	22263519	4	4	206	1	0	0	0	0	0	1	0	0	11819	827	29	4	2222	4	PHEX	23	22263519	Nonsense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08		22263519	133007041	88	111546											
DMD	1756	broad.mit.edu	37	chrX	31792190	31792190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagttctgtccaagcccGgttgaaatctgccagagcag	12	10	2	2			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chrX:31792190G>A	uc004dda.1	-	51	7673	c.7429C>T	c.(7429-7431)CGG>TGG	p.R2477W	DMD_uc004dcr.1_Missense_Mutation_p.R17W|DMD_uc004dcs.1_Missense_Mutation_p.R17W|DMD_uc004dct.1_Missense_Mutation_p.R17W|DMD_uc004dcu.1_Missense_Mutation_p.R17W|DMD_uc004dcv.1_Missense_Mutation_p.R17W|DMD_uc004dcw.2_Missense_Mutation_p.R1133W|DMD_uc004dcx.2_Missense_Mutation_p.R1136W|DMD_uc004dcz.2_Missense_Mutation_p.R2354W|DMD_uc004dcy.1_Missense_Mutation_p.R2473W|DMD_uc004ddb.1_Missense_Mutation_p.R2469W|DMD_uc004ddd.1_Missense_Mutation_p.R17W	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2477	Spectrin 17.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				GTCCAAGCCCGGTTGAAATCT	0.463													A	31792190	G	A	31792190	3	1	206	1	0	0	0	0	1	0	0	0	4580	1115	39	1	3892	1	DMD	23	31792190	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	9528671	31792190	123478370	89	111547											
MAGEE2	139599	broad.mit.edu	37	chrX	75004703	75004703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtcattcgggtcctgaaCggcctgggaagtgttgacac	14	10	1	2	rs142989384		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chrX:75004703C>A	uc004ecj.1	-	1	369	c.184G>T	c.(184-186)GTT>TTT	p.V62F		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	62										ovary(1)|skin(1)	2						GGGTCCTGAACGGCCTGGGAA	0.592													A	75004703	C	A	75004703	3	1	206	1	0	0	0	0	1	0	0	0	9186	536	19	5	1391	5	MAGEE2	23	75004703	Missense_Mutation	SNP	C	TCGA-D7-6521-01A-11D-1800-08	43212513	75004703	80265857	90	111548											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685294	125685294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccagttgtagcagtggGtgtagagcgcattgggaaac	16	7	0	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chrX:125685294G>A	uc004eul.2	-	1	1549	c.1298C>T	c.(1297-1299)ACC>ATC	p.T433I		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	433										skin(3)|ovary(1)	4						GTAGCAGTGGGTGTAGAGCGC	0.552													A	125685294	G	A	125685294	3	1	206	1	0	0	0	0	1	0	0	0	4264	1261	44	4	97	4	DCAF12L1	23	125685294	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	50680591	125685294	29585266	91	111549											
UBE2NL	389898	broad.mit.edu	37	chrX	142967424	142967424	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctaaagtacgtttcatgacCaaaatttatcatccaaatgt	4	9	2	1			TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chrX:142967424C>A	uc004fca.2	+	1	252	c.222C>A	c.(220-222)ACC>ACA	p.T74T		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	74							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCATGACCAAAATTTATC	0.413													A	142967424	C	A	142967424	2	1	206	1	0	0	0	0	0	0	0	1	16864	581	21	5		5	UBE2NL	23	142967424	Silent	SNP	C	TCGA-D7-6521-01A-11D-1800-08	17282130	142967424	12303136	92	111550											
F8	2157	broad.mit.edu	37	chrX	154197692	154197692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtaaggaaagttattggcGagatttccaaggacgcctgg	13	7	0	1	rs137852404		TCGA-D7-6521-01A-11D-1800-08	TCGA-D7-6521-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af27d5e0-d709-4e53-949d-cd7cd7bfb970	9f181c29-67a5-43b4-afc3-eaf51936888d	g.chrX:154197692G>A	uc004fmt.2	-	7	1094	c.923C>T	c.(922-924)TCG>TTG	p.S308L		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	308	Plastocyanin-like 2.|F5/8 type A 1.				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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	AGTTATTGGCGAGATTTCCAA	0.448													A	154197692	G	A	154197692	3	1	206	1	0	0	0	0	1	0	0	0	5350	1059	37	1	6240	1	F8	23	154197692	Missense_Mutation	SNP	G	TCGA-D7-6521-01A-11D-1800-08	11230268	154197692	1072868	93	111551											
LPHN2	23266	broad.mit.edu	37	chr1	82456569	82456569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagactctctttatacaAgcatgcccaatcttagagac	6	11	2	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:82456569A>C	uc001dit.3	+	21	4133	c.3952A>C	c.(3952-3954)AGC>CGC	p.S1318R	LPHN2_uc001dis.2_Missense_Mutation_p.S298R|LPHN2_uc001diu.2_Missense_Mutation_p.S1318R|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.S945R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1374	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTTTATACAAGCATGCCCAA	0.493													C	82456569	A	C	82456569	3	2	207	1	0	0	0	0	1	0	0	0	8916	72	3	5	4026	5	LPHN2	1	82456569	Missense_Mutation	SNP	A	TCGA-D7-6522-01A-11D-1800-08		82456569	166794052	1	111552											
C1orf51	148523	broad.mit.edu	37	chr1	150256881	150256881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatggacaggatccagcGtattgtaggtgttttgcaga	14	6	0	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:150256881G>A	uc001euh.2	+	4	624	c.488G>A	c.(487-489)CGT>CAT	p.R163H	C1orf51_uc001eui.2_Missense_Mutation_p.R75H|C1orf51_uc001euj.2_Missense_Mutation_p.R163H	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	163											0	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)			AGGATCCAGCGTATTGTAGGT	0.468													A	150256881	G	A	150256881	3	1	207	1	0	0	0	0	1	0	0	0	2043	1145	40	1	498	1	C1orf51	1	150256881	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	67800312	150256881	98993740	2	111553											
SPTA1	6708	broad.mit.edu	37	chr1	158617375	158617375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgggcctcatttaggcTctccttacgatcctttgtac	7	12	3	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:158617375T>C	uc001fst.1	-	27	4049	c.3850A>G	c.(3850-3852)AGC>GGC	p.S1284G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1284	Spectrin 12.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCATTTAGGCTCTCCTTACGA	0.542													C	158617375	T	C	158617375	3	2	207	1	0	0	0	0	1	0	0	0	15115	1551	54	3	3513	3	SPTA1	1	158617375	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	8360494	158617375	90633246	3	111554											
TNR	7143	broad.mit.edu	37	chr1	175355352	175355352	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatttcaaaagaatgaaatcGactttggctcgagggggaat	11	5	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:175355352G>T	uc001gkp.1	-	6	1674	c.1593C>A	c.(1591-1593)GTC>GTA	p.V531V	TNR_uc009wwu.1_Silent_p.V531V	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	531	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GAATGAAATCGACTTTGGCTC	0.577													T	175355352	G	T	175355352	2	4	207	1	0	0	0	0	0	0	0	1	16335	1045	37	5		5	TNR	1	175355352	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	16737977	175355352	73895269	4	111555											
FAM89A	375061	broad.mit.edu	37	chr1	231155737	231155737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatattcctcctcttcatCgaagaagccgttctccagag	7	12	3	2	rs61740910	byFrequency	TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:231155737C>T	uc001hui.2	-	2	465	c.427G>A	c.(427-429)GAT>AAT	p.D143N	FAM89A_uc009xfm.2_Missense_Mutation_p.D154N|MIR1182_hsa-mir-1182|MI0006275_5'Flank	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	143											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCCTCTTCATCGAAGAAGCCG	0.587													T	231155737	C	T	231155737	3	4	207	1	0	0	0	0	1	0	0	0	5647	884	31	1	131	1	FAM89A	1	231155737	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	55800385	231155737	18094884	5	111556											
B3GALNT2	148789	broad.mit.edu	37	chr1	235629002	235629002	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actccctccacaccttccaaGaattcatgaggcaatgcacc	5	16	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:235629002G>A	uc001hxc.2	-	7	1021	c.792C>T	c.(790-792)TTC>TTT	p.F264F	B3GALNT2_uc001hxd.1_Silent_p.F305F	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	264	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CACCTTCCAAGAATTCATGAG	0.363													A	235629002	G	A	235629002	2	1	207	1	0	0	0	0	0	0	0	1	1246	933	33	4		4	B3GALNT2	1	235629002	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	4473265	235629002	13621619	6	111557											
OR6F1	343169	broad.mit.edu	37	chr1	247875986	247875986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcataaagagagagagCtgaagagtttgagaaccagg	13	4	0	5			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:247875986C>A	uc001idj.1	-	1	72	c.72G>T	c.(70-72)CAG>CAT	p.Q24H		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			AGAGAGAGAGCTGAAGAGTTT	0.463													A	247875986	C	A	247875986	3	1	207	1	0	0	0	0	1	0	0	0	11201	796	28	5	858	5	OR6F1	1	247875986	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	12246984	247875986	1374635	7	111558											
OR2M4	26245	broad.mit.edu	37	chr1	248402739	248402739	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcattttcttactgcaGctctctggaaattcatcact	5	12	5	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr1:248402739G>T	uc010pzh.1	+	1	509	c.509G>T	c.(508-510)AGC>ATC	p.S170I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	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)			TCTTACTGCAGCTCTCTGGAA	0.433													T	248402739	G	T	248402739	3	4	207	1	0	0	0	0	1	0	0	0	11012	971	34	5	511	5	OR2M4	1	248402739	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	526753	248402739	847882	8	111559											
RASGRP3	25780	broad.mit.edu	37	chr2	33748980	33748980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctatgtcatccatggctGcctggagaataatccaacct	8	11	1	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr2:33748980G>T	uc002rox.2	+	9	1178	c.551G>T	c.(550-552)TGC>TTC	p.C184F	RASGRP3_uc010ync.1_Missense_Mutation_p.C184F|RASGRP3_uc002roy.2_Missense_Mutation_p.C184F	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	184	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			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					ATCCATGGCTGCCTGGAGAAT	0.383													T	33748980	G	T	33748980	3	4	207	1	0	0	0	0	1	0	0	0	13076	1319	46	5	573	5	RASGRP3	2	33748980	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		33748980	209450393	9	111560											
DYSF	8291	broad.mit.edu	37	chr2	71744167	71744167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctctcctcggggagttcCgggtaattgcttattttcta	10	9	2	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr2:71744167C>T	uc002sie.2	+	9	1280	c.904C>T	c.(904-906)CGG>TGG	p.R302W	DYSF_uc010feg.2_Missense_Mutation_p.R333W|DYSF_uc010feh.2_Missense_Mutation_p.R302W|DYSF_uc002sig.3_Missense_Mutation_p.R302W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R302W|DYSF_uc010fef.2_Missense_Mutation_p.R333W|DYSF_uc010fei.2_Missense_Mutation_p.R333W|DYSF_uc010fek.2_Missense_Mutation_p.R334W|DYSF_uc010fej.2_Missense_Mutation_p.R303W|DYSF_uc010fel.2_Missense_Mutation_p.R303W|DYSF_uc010feo.2_Missense_Mutation_p.R334W|DYSF_uc010fem.2_Missense_Mutation_p.R303W|DYSF_uc010fen.2_Missense_Mutation_p.R334W|DYSF_uc002sif.2_Missense_Mutation_p.R303W	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	302	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CGGGGAGTTCCGGGTAATTGC	0.512													T	71744167	C	T	71744167	3	4	207	1	0	0	0	0	1	0	0	0	4859	643	23	1	1130	1	DYSF	2	71744167	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	37995187	71744167	171455206	10	111561											
HK2	3099	broad.mit.edu	37	chr2	75115135	75115135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggccgcatctcagagcgGctcaagacaaggggcatctt	13	12	3	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr2:75115135G>A	uc002snd.2	+	16	4251	c.2325G>A	c.(2323-2325)CGG>CGA	p.R775R		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	775	Catalytic.		R -> Q.		apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						TCTCAGAGCGGCTCAAGACAA	0.498													A	75115135	G	A	75115135	2	1	207	1	0	0	0	0	0	0	0	1	7191	1190	42	2		2	HK2	2	75115135	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	3370968	75115135	168084238	11	111562											
CTNNA2	1496	broad.mit.edu	37	chr2	80101439	80101439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggccacacgggcatcggcGagctggctgcggctcttaat	15	12	1	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr2:80101439G>A	uc010ysh.1	+	5	828	c.823G>A	c.(823-825)GAG>AAG	p.E275K	CTNNA2_uc010yse.1_Missense_Mutation_p.E275K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E275K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E275K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	275					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GGGCATCGGCGAGCTGGCTGC	0.527													A	80101439	G	A	80101439	3	1	207	1	0	0	0	0	1	0	0	0	4013	1059	37	1	841	1	CTNNA2	2	80101439	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	4986304	80101439	163097934	12	111563											
BTD	686	broad.mit.edu	37	chr3	15686531	15686531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtggaacgtgaatGctcctcccacatttcactct	6	15	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr3:15686531G>T	uc003cah.2	+	4	1271	c.1168G>T	c.(1168-1170)GCT>TCT	p.A390S	BTD_uc011avv.1_Missense_Mutation_p.A392S|BTD_uc011avw.1_Missense_Mutation_p.A392S|BTD_uc011avx.1_Missense_Mutation_p.A370S	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	390					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0						GAACGTGAATGCTCCTCCCAC	0.478													T	15686531	G	T	15686531	3	4	207	1	0	0	0	0	1	0	0	0	1550	1319	46	5	1182	5	BTD	3	15686531	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		15686531	182335899	13	111564											
TGFBR2	7048	broad.mit.edu	37	chr3	30715619	30715619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaactgcaagatacatggCtccagaagtcctagaatcca	10	10	0	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr3:30715619C>T	uc003ceo.2	+	5	1659	c.1277C>T	c.(1276-1278)GCT>GTT	p.A426V	TGFBR2_uc003cen.2_Missense_Mutation_p.A451V	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	426	Protein kinase.|Cytoplasmic (Potential).				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|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 I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						AGATACATGGCTCCAGAAGTC	0.448													T	30715619	C	T	30715619	3	4	207	1	0	0	0	0	1	0	0	0	15819	797	28	2	1374	2	TGFBR2	3	30715619	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	15029088	30715619	167306811	14	111565											
TGFBR2	7048	broad.mit.edu	37	chr3	30715667	30715667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggagaatgttgagtcctTcaagcagaccgatgtctact	10	8	2	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr3:30715667T>C	uc003ceo.2	+	5	1707	c.1325T>C	c.(1324-1326)TTC>TCC	p.F442S	TGFBR2_uc003cen.2_Missense_Mutation_p.F467S	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	442	Protein kinase.|Cytoplasmic (Potential).				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|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 I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GTTGAGTCCTTCAAGCAGACC	0.488													C	30715667	T	C	30715667	3	2	207	1	0	0	0	0	1	0	0	0	15819	1783	62	3	1422	3	TGFBR2	3	30715667	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	48	30715667	167306763	15	111566											
RHOA	387	broad.mit.edu	37	chr3	49412898	49412898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatatctgccacaTagttctcaaacactgtgggc	7	14	2	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr3:49412898T>C	uc003cwu.2	-	2	401	c.125A>G	c.(124-126)TAT>TGT	p.Y42C	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				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			ovary(2)	2				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)	ATCTGCCACATAGTTCTCAAA	0.433													C	49412898	T	C	49412898	3	2	207	1	0	0	0	0	1	0	0	0	13331	1406	49	3	472	3	RHOA	3	49412898	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	18697231	49412898	148609532	16	111567											
CACNA1D	776	broad.mit.edu	37	chr3	53785816	53785816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaagcacgtcccttgcGgagatacatccccaaaaacc	7	14	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr3:53785816G>A	uc003dgv.3	+	28	3720	c.3557G>A	c.(3556-3558)CGG>CAG	p.R1186Q	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1206Q|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1186Q|CACNA1D_uc003dgw.3_Missense_Mutation_p.R853Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.R334Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1186	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	CGTCCCTTGCGGAGATACATC	0.507													A	53785816	G	A	53785816	3	1	207	1	0	0	0	0	1	0	0	0	2541	1116	39	1	3839	1	CACNA1D	3	53785816	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	4372918	53785816	144236614	17	111568											
TMEM108	66000	broad.mit.edu	37	chr3	133098617	133098617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgctgatcttggcacTgaccgaagcgctggcatttg	11	11	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr3:133098617T>C	uc003eph.2	+	4	336	c.62T>C	c.(61-63)CTG>CCG	p.L21P	TMEM108_uc003epi.2_Missense_Mutation_p.L21P|TMEM108_uc003epj.1_Missense_Mutation_p.L21P|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_5'UTR	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	21						integral to membrane				ovary(2)|skin(2)	4						ATCTTGGCACTGACCGAAGCG	0.552													C	133098617	T	C	133098617	3	2	207	1	0	0	0	0	1	0	0	0	16021	1580	55	3	68	3	TMEM108	3	133098617	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	79312801	133098617	64923813	18	111569											
KIAA1211	57482	broad.mit.edu	37	chr4	57181091	57181091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggggatttccagggggccGatcgtcctgggcccgaggaa	18	11	0	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr4:57181091G>A	uc003hbk.2	+	8	1814	c.1423G>A	c.(1423-1425)GAT>AAT	p.D475N	KIAA1211_uc010iha.2_Missense_Mutation_p.D468N|KIAA1211_uc011bzz.1_Missense_Mutation_p.D385N|KIAA1211_uc003hbm.1_Missense_Mutation_p.D361N	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	475	Glu-rich.									ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CCAGGGGGCCGATCGTCCTGG	0.632													A	57181091	G	A	57181091	3	1	207	1	0	0	0	0	1	0	0	0	8215	1058	37	1	1441	1	KIAA1211	4	57181091	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		57181091	133973185	19	111570											
SEC24D	9871	broad.mit.edu	37	chr4	119736228	119736228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttctggggctgtggCggaccagccatctgtgcagg	15	11	3	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr4:119736228C>T	uc003ici.3	-	6	1028	c.756G>A	c.(754-756)CCG>CCA	p.P252P	SEC24D_uc003icj.3_Silent_p.P253P|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	252	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				0						GGGGCTGTGGCGGACCAGCCA	0.517													T	119736228	C	T	119736228	2	4	207	1	0	0	0	0	0	0	0	1	13997	755	27	1		1	SEC24D	4	119736228	Silent	SNP	C	TCGA-D7-6522-01A-11D-1800-08	62555137	119736228	71418048	20	111571											
FGA	2243	broad.mit.edu	37	chr4	155506853	155506853	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgtttgctgtaacttgaAgatttaccacgggaagggaa	11	5	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr4:155506853A>C	uc003iod.1	-	5	1786	c.1728T>G	c.(1726-1728)TCT>TCG	p.S576S	FGA_uc003ioe.1_Silent_p.S576S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	576	By similarity.				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			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTAACTTGAAGATTTACCAC	0.443													C	155506853	A	C	155506853	2	2	207	1	0	0	0	0	0	0	0	1	5830	59	3	5		5	FGA	4	155506853	Silent	SNP	A	TCGA-D7-6522-01A-11D-1800-08	35770625	155506853	35647423	21	111572											
ADAMTS16	170690	broad.mit.edu	37	chr5	5242289	5242289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcgctctgagtgctccGtgtcctgcggagggggtagg	18	10	1	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr5:5242289G>A	uc003jdl.2	+	17	2785	c.2647G>A	c.(2647-2649)GTG>ATG	p.V883M	ADAMTS16_uc003jdk.1_Missense_Mutation_p.V883M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	883	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGAGTGCTCCGTGTCCTGCGG	0.617													A	5242289	G	A	5242289	3	1	207	1	0	0	0	0	1	0	0	0	261	1145	40	1	2713	1	ADAMTS16	5	5242289	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		5242289	175672971	22	111573											
PCDHB2	56133	broad.mit.edu	37	chr5	140474440	140474440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgatattctttgttttGctgggcatagctcaggctag	11	8	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr5:140474440G>T	uc003lil.2	+	1	204	c.66G>T	c.(64-66)TTG>TTT	p.L22F	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTTGTTTTGCTGGGCATAG	0.537													T	140474440	G	T	140474440	3	4	207	1	0	0	0	0	1	0	0	0	11542	1310	46	5	68	5	PCDHB2	5	140474440	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	135232151	140474440	40440820	23	111574											
C6orf201	404220	broad.mit.edu	37	chr6	4087935	4087935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagacgctttattcccgCaagagtgaagaggacaagaa	12	7	0	5			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr6:4087935C>T	uc003mwa.3	+	2	828	c.60C>T	c.(58-60)CGC>CGT	p.R20R	C6orf146_uc010jnq.1_5'Flank|C6orf146_uc003mvy.2_5'Flank|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Silent_p.R20R|C6orf201_uc003mwb.3_RNA	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	hypothetical protein LOC404220	20											0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTTATTCCCGCAAGAGTGAAG	0.473													T	4087935	C	T	4087935	2	4	207	1	0	0	0	0	0	0	0	1	2351	697	25	2		2	C6orf201	6	4087935	Silent	SNP	C	TCGA-D7-6522-01A-11D-1800-08		4087935	167027132	24	111575											
FRS3	10817	broad.mit.edu	37	chr6	41744669	41744669	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgggtaccttgaacttGgtggggtggttgtctggaac	16	7	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr6:41744669G>T	uc003orc.1	-	3	301	c.57C>A	c.(55-57)ACC>ACA	p.T19T		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	19	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	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)			CCTTGAACTTGGTGGGGTGGT	0.542													T	41744669	G	T	41744669	2	4	207	1	0	0	0	0	0	0	0	1	6062	1335	47	5		5	FRS3	6	41744669	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	37656734	41744669	129370398	25	111576											
SYNE1	23345	broad.mit.edu	37	chr6	152563476	152563476	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtttctagcaggtcagccaGatcttgtagggccctctcat	10	11	4	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr6:152563476G>T	uc010kiw.2	-	107	20394	c.19792C>A	c.(19792-19794)CTG>ATG	p.L6598M	SYNE1_uc010kiv.2_Missense_Mutation_p.L1122M|SYNE1_uc003qos.3_Missense_Mutation_p.L1122M|SYNE1_uc003qot.3_Missense_Mutation_p.L6527M|SYNE1_uc003qou.3_Missense_Mutation_p.L6598M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6598	Potential.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTCAGCCAGATCTTGTAGG	0.468										HNSCC(10;0.0054)			T	152563476	G	T	152563476	3	4	207	1	0	0	0	0	1	0	0	0	15442	933	33	5	6834	5	SYNE1	6	152563476	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	110818807	152563476	18551591	26	111577											
OSBPL3	26031	broad.mit.edu	37	chr7	24874246	24874246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggacaggtccttcccgatGttgttcctcaggatgttcca	10	11	1	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr7:24874246G>A	uc003sxf.2	-	15	2010	c.1605C>T	c.(1603-1605)AAC>AAT	p.N535N	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.N499N|OSBPL3_uc003sxh.2_Silent_p.N504N|OSBPL3_uc003sxi.2_Silent_p.N468N|OSBPL3_uc003sxj.1_Silent_p.N264N|OSBPL3_uc003sxk.1_Silent_p.N233N	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	535					lipid transport		lipid binding|protein binding			skin(1)	1						CCTTCCCGATGTTGTTCCTCA	0.617													A	24874246	G	A	24874246	2	1	207	1	0	0	0	0	0	0	0	1	11279	1368	48	4		4	OSBPL3	7	24874246	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08		24874246	134264417	27	111578											
GLI3	2737	broad.mit.edu	37	chr7	42011956	42011956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggcttctctgccttgaCggttttcacctggaggcatt	10	11	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr7:42011956C>T	uc011kbh.1	-	13	2174	c.2083G>A	c.(2083-2085)GTC>ATC	p.V695I	GLI3_uc011kbg.1_Missense_Mutation_p.V636I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	695					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TCTGCCTTGACGGTTTTCACC	0.552									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42011956	C	T	42011956	3	4	207	1	0	0	0	0	1	0	0	0	6439	536	19	1	2671	1	GLI3	7	42011956	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	17137710	42011956	117126707	28	111579											
ADAM22	53616	broad.mit.edu	37	chr7	87564386	87564386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaaggaaaaccgctTcgtggagcgccagagcatcg	15	9	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr7:87564386T>C	uc003ujn.2	+	2	210	c.131T>C	c.(130-132)TTC>TCC	p.F44S	ADAM22_uc003uji.1_Missense_Mutation_p.F43S|ADAM22_uc003ujj.1_Missense_Mutation_p.F44S|ADAM22_uc003ujk.1_Missense_Mutation_p.F44S|ADAM22_uc003ujl.1_Missense_Mutation_p.F44S|ADAM22_uc003ujm.2_Missense_Mutation_p.F44S|ADAM22_uc003ujo.2_Missense_Mutation_p.F44S|ADAM22_uc003ujp.1_Missense_Mutation_p.F96S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	44					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			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAACCGCTTCGTGGAGCGC	0.612													C	87564386	T	C	87564386	3	2	207	1	0	0	0	0	1	0	0	0	244	1783	62	3	137	3	ADAM22	7	87564386	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	45552430	87564386	71574277	29	111580											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652018	121652018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagccatataccaatacctaAgtcttcgttaataaccccaa	3	12	1	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr7:121652018A>C	uc003vjy.2	+	12	3313	c.2918A>C	c.(2917-2919)AAG>ACG	p.K973T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	973	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CCAATACCTAAGTCTTCGTTA	0.443													C	121652018	A	C	121652018	3	2	207	1	0	0	0	0	1	0	0	0	12814	72	3	5	2964	5	PTPRZ1	7	121652018	Missense_Mutation	SNP	A	TCGA-D7-6522-01A-11D-1800-08	34087632	121652018	37486645	30	111581											
DLGAP2	9228	broad.mit.edu	37	chr8	1513926	1513926	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgcaggagaatgagaagtggGagttacattaaagccatggg	15	4	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr8:1513926G>C	uc003wpl.2	+	3	1165	c.1068G>C	c.(1066-1068)GGG>GGC	p.G356G	DLGAP2_uc003wpm.2_Silent_p.G356G	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	435					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		TGAGAAGTGGGAGTTACATTA	0.557													C	1513926	G	C	1513926	2	2	207	1	0	0	0	0	0	0	0	1	4560	1161	41	5		5	DLGAP2	8	1513926	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08		1513926	144850096	31	111582											
BMP1	649	broad.mit.edu	37	chr8	22037329	22037329	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcccaagcccgcaagctTtacaagtgcccaggtcaggg	11	13	1	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr8:22037329T>C	uc003xbg.2	+	7	1192	c.948T>C	c.(946-948)CTT>CTC	p.L316L	BMP1_uc003xba.2_Silent_p.L316L|BMP1_uc003xbb.2_Silent_p.L316L|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.L65L|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.L65L|BMP1_uc011kzc.1_Silent_p.L65L|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	316	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			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCGCAAGCTTTACAAGTGCC	0.612													C	22037329	T	C	22037329	2	2	207	1	0	0	0	0	0	0	0	1	1456	1828	64	3		3	BMP1	8	22037329	Silent	SNP	T	TCGA-D7-6522-01A-11D-1800-08	20523403	22037329	124326693	32	111583											
GTPBP4	23560	broad.mit.edu	37	chr10	1053033	1053033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgaggtgctgaatagaCtgcacctggctatcccaacc	10	11	0	4			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr10:1053033C>T	uc001ift.2	+	10	1149	c.1078C>T	c.(1078-1080)CTG>TTG	p.L360L	GTPBP4_uc010qac.1_Silent_p.L151L|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.L244L|GTPBP4_uc010qae.1_Silent_p.L313L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	360					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			ovary(1)|skin(1)	2		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)		GCTGAATAGACTGCACCTGGC	0.507													T	1053033	C	T	1053033	2	4	207	1	0	0	0	0	0	0	0	1	6882	564	20	4		4	GTPBP4	10	1053033	Silent	SNP	C	TCGA-D7-6522-01A-11D-1800-08		1053033	134481714	33	111584											
PRKG1	5592	broad.mit.edu	37	chr10	54041923	54041923	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctttgtaaggttgattttgGctttgcaaagaaaataggat	10	3	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr10:54041923G>C	uc001jjm.2	+	14	1705	c.1511G>C	c.(1510-1512)GGC>GCC	p.G504A	PRKG1_uc001jjo.2_Missense_Mutation_p.G519A|PRKG1_uc009xow.1_Missense_Mutation_p.G222A|uc001jjq.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	504	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		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)		GTTGATTTTGGCTTTGCAAAG	0.343													C	54041923	G	C	54041923	3	2	207	1	0	0	0	0	1	0	0	0	12522	1203	42	5	1880	5	PRKG1	10	54041923	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	52988890	54041923	81492824	34	111585											
BICC1	80114	broad.mit.edu	37	chr10	60588555	60588555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagaaagctttttgaatcGccaaatgcacgcacctcttt	7	11	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr10:60588555G>A	uc001jki.1	+	21	2829	c.2829G>A	c.(2827-2829)TCG>TCA	p.S943S		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	943					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TTTTTGAATCGCCAAATGCAC	0.468													A	60588555	G	A	60588555	2	1	207	1	0	0	0	0	0	0	0	1	1427	1074	38	1		1	BICC1	10	60588555	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	6546632	60588555	74946192	35	111586											
C11orf35	256329	broad.mit.edu	37	chr11	557633	557633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccatcagagtctctgccGtcactacctgcaagagggga	12	12	3	2	rs138095963		TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr11:557633G>A	uc001lpx.2	-	6	626	c.563C>T	c.(562-564)ACG>ATG	p.T188M	uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	188										pancreas(1)	1		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)		AGTCTCTGCCGTCACTACCTG	0.612													A	557633	G	A	557633	3	1	207	1	0	0	0	0	1	0	0	0	1638	1145	40	1	1377	1	C11orf35	11	557633	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		557633	134448883	36	111587											
UBQLN3	50613	broad.mit.edu	37	chr11	5528867	5528867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatccacgtcgccccccGtagcaatgagggcctgaaga	11	15	0	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr11:5528867G>A	uc001may.1	-	2	2008	c.1922C>T	c.(1921-1923)ACG>ATG	p.T641M	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	641	UBA.									ovary(3)	3		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)		GTCGCCCCCCGTAGCAATGAG	0.537													A	5528867	G	A	5528867	3	1	207	1	0	0	0	0	1	0	0	0	16895	1145	40	1	49	1	UBQLN3	11	5528867	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	4971234	5528867	129477649	37	111588											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159146	18159146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatctggtaccactgcCgccgccccagatacctgtca	9	18	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr11:18159146C>T	uc001mnu.2	+	3	758	c.397C>T	c.(397-399)CGC>TGC	p.R133C		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	133	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						GTACCACTGCCGCCGCCCCAG	0.572													T	18159146	C	T	18159146	3	4	207	1	0	0	0	0	1	0	0	0	9768	652	23	1	399	1	MRGPRX3	11	18159146	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	12630279	18159146	116847370	38	111589											
OR8J1	219477	broad.mit.edu	37	chr11	56128624	56128624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaataaggatgtgaagactgCtctacagagattcatgacaa	10	6	2	4			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr11:56128624C>A	uc010rjh.1	+	1	902	c.902C>A	c.(901-903)GCT>GAT	p.A301D		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTGAAGACTGCTCTACAGAGA	0.368													A	56128624	C	A	56128624	3	1	207	1	0	0	0	0	1	0	0	0	11241	797	28	5	904	5	OR8J1	11	56128624	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	37969478	56128624	78877892	39	111590											
TRPC6	7225	broad.mit.edu	37	chr11	101375501	101375501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagaactgtctgccgccGgtgagccagtctgttgtcag	14	11	3	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr11:101375501G>A	uc001pgk.3	-	2	624	c.199C>T	c.(199-201)CGG>TGG	p.R67W	TRPC6_uc009ywy.2_Missense_Mutation_p.R67W|TRPC6_uc009ywz.1_Missense_Mutation_p.R67W	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	67	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTCTGCCGCCGGTGAGCCAGT	0.463													A	101375501	G	A	101375501	3	1	207	1	0	0	0	0	1	0	0	0	16580	1115	39	1	2644	1	TRPC6	11	101375501	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	45246877	101375501	33631015	40	111591											
MCAM	4162	broad.mit.edu	37	chr11	119182655	119182655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccctttccagcacctggCctgtctgggatgagagatgg	13	13	1	2	rs1131437		TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr11:119182655C>A	uc001pwf.2	-	10	1177	c.1148G>T	c.(1147-1149)GGC>GTC	p.G383V	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	383	Ig-like C2-type 2.|Extracellular (Potential).			G -> D (in Ref. 1, 2 and 3).	anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGCACCTGGCCTGTCTGGGA	0.642													A	119182655	C	A	119182655	3	1	207	1	0	0	0	0	1	0	0	0	9368	739	26	5	820	5	MCAM	11	119182655	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	17807154	119182655	15823861	41	111592											
HEPACAM	220296	broad.mit.edu	37	chr11	124794667	124794667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccccagtgaaggtgtcGtcggtgatggagatctcgac	13	10	2	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr11:124794667G>A	uc001qbk.2	-	2	790	c.384C>T	c.(382-384)GAC>GAT	p.D128D	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.D128D	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	128	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	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)		TGAAGGTGTCGTCGGTGATGG	0.552													A	124794667	G	A	124794667	2	1	207	1	0	0	0	0	0	0	0	1	7052	1136	40	1		1	HEPACAM	11	124794667	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	5612012	124794667	10211849	42	111593											
FGF6	2251	broad.mit.edu	37	chr12	4553300	4553300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcctggtgaactcaccGttgcgtacaatcttccttta	8	14	2	1	rs140216440		TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr12:4553300G>A	uc001qmr.1	-	2	493	c.449C>T	c.(448-450)ACG>ATG	p.T150M		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	150					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TGAACTCACCGTTGCGTACAA	0.478													A	4553300	G	A	4553300	3	1	207	1	0	0	0	0	1	0	0	0	5856	1159	40	1	185	1	FGF6	12	4553300	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		4553300	129298595	43	111594											
CLEC1B	51266	broad.mit.edu	37	chr12	10147790	10147790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttccagacctcattcgacTtctggcgagataatccgacc	7	14	2	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr12:10147790T>A	uc001qwu.2	-	5	694	c.494A>T	c.(493-495)AAG>ATG	p.K165M	CLEC1B_uc009zhd.2_Missense_Mutation_p.K132M	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	165	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0						CTCATTCGACTTCTGGCGAGA	0.423													A	10147790	T	A	10147790	3	1	207	1	0	0	0	0	1	0	0	0	3506	1609	56	5	203	5	CLEC1B	12	10147790	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	5594490	10147790	123704105	44	111595											
IAPP	3375	broad.mit.edu	37	chr12	21531349	21531349	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagagagccactgaattacTtgcccctttagaggacaatg	10	9	0	4			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr12:21531349T>A	uc001rev.2	+	3	411	c.259T>A	c.(259-261)TTG>ATG	p.L87M	SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	islet amyloid polypeptide precursor	87					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)	ACTGAATTACTTGCCCCTTTA	0.383													A	21531349	T	A	21531349	3	1	207	1	0	0	0	0	1	0	0	0	7472	1606	56	5	265	5	IAPP	12	21531349	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	11383559	21531349	112320546	45	111596											
PPFIBP1	8496	broad.mit.edu	37	chr12	27829368	27829368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcctctcaggacagagCtccggcagaaagcaggccat	11	12	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr12:27829368C>T	uc001ric.1	+	18	1846	c.1469C>T	c.(1468-1470)GCT>GTT	p.A490V	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A321V|PPFIBP1_uc001rib.1_Missense_Mutation_p.A473V|PPFIBP1_uc001ria.2_Missense_Mutation_p.A459V|PPFIBP1_uc001rid.1_Missense_Mutation_p.A337V|PPFIBP1_uc001rif.1_5'Flank	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	490					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					CAGGACAGAGCTCCGGCAGAA	0.552													T	27829368	C	T	27829368	3	4	207	1	0	0	0	0	1	0	0	0	12313	797	28	2	1522	2	PPFIBP1	12	27829368	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	6298019	27829368	106022527	46	111597											
PDZRN4	29951	broad.mit.edu	37	chr12	41946487	41946487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcgtgttagcagtcaAgagaagctgggcctgacagt	14	7	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr12:41946487A>C	uc010skn.1	+	6	704	c.636A>C	c.(634-636)CAA>CAC	p.Q212H	PDZRN4_uc001rmq.3_Missense_Mutation_p.Q153H|PDZRN4_uc009zjz.2_Missense_Mutation_p.Q151H|PDZRN4_uc001rmr.2_Missense_Mutation_p.Q38H	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	411	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTAGCAGTCAAGAGAAGCTGG	0.468													C	41946487	A	C	41946487	3	2	207	1	0	0	0	0	1	0	0	0	11710	69	3	5	1328	5	PDZRN4	12	41946487	Missense_Mutation	SNP	A	TCGA-D7-6522-01A-11D-1800-08	14117119	41946487	91905408	47	111598											
E2F7	144455	broad.mit.edu	37	chr12	77417916	77417916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggtgtcttgaaaaacGtctcacgatgtgtgcgttgg	14	8	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr12:77417916G>A	uc001sym.3	-	13	2851	c.2615C>T	c.(2614-2616)ACG>ATG	p.T872M	E2F7_uc009zse.2_3'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	872					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						CTTGAAAAACGTCTCACGATG	0.473													A	77417916	G	A	77417916	3	1	207	1	0	0	0	0	1	0	0	0	4872	1145	40	1	124	1	E2F7	12	77417916	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	35471429	77417916	56433979	48	111599											
TCTN2	79867	broad.mit.edu	37	chr12	124171418	124171418	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaacgctgttcagacgGtcctgcttcaccggcgtgtt	10	12	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr12:124171418G>T	uc001ufp.2	+	6	728	c.600G>T	c.(598-600)CGG>CGT	p.R200R	TCTN2_uc009zya.2_Silent_p.R199R	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	200	Extracellular (Potential).				cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	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)		TGTTCAGACGGTCCTGCTTCA	0.532													T	124171418	G	T	124171418	2	4	207	1	0	0	0	0	0	0	0	1	15720	1248	44	5		5	TCTN2	12	124171418	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	46753502	124171418	9680477	49	111600											
FRY	10129	broad.mit.edu	37	chr13	32760399	32760399	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgtgtttttctccctagttCaccaccgaagatttctcttc	6	12	3	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr13:32760399C>G	uc001utx.2	+	27	3818	c.3322C>G	c.(3322-3324)CAC>GAC	p.H1108D	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		CTCCCTAGTTCACCACCGAAG	0.413													G	32760399	C	G	32760399	3	3	207	1	0	0	0	0	1	0	0	0	6063	826	29	5	3428	5	FRY	13	32760399	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08		32760399	82409479	50	111601											
PRKCH	5583	broad.mit.edu	37	chr14	61917668	61917668	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctctggggaataatgCgacaaggacttcagtgtaaa	11	8	2	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr14:61917668C>T	uc001xfn.2	+	6	1116	c.811C>T	c.(811-813)CGA>TGA	p.R271*	PRKCH_uc010tsa.1_Nonsense_Mutation_p.R110*	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	271	Phorbol-ester/DAG-type 2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGGAATAATGCGACAAGGACT	0.488													T	61917668	C	T	61917668	4	4	207	1	0	0	0	0	0	1	0	0	12513	760	27	1	833	1	PRKCH	14	61917668	Nonsense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08		61917668	45431872	51	111602											
RGS6	9628	broad.mit.edu	37	chr14	72976881	72976881	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagagcccagccaacagCgagtaaaaagatggggcttc	12	10	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr14:72976881C>T	uc001xna.3	+	14	1508	c.985C>T	c.(985-987)CGA>TGA	p.R329*	RGS6_uc010ttn.1_Nonsense_Mutation_p.R329*|RGS6_uc001xmx.3_Nonsense_Mutation_p.R329*|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Nonsense_Mutation_p.R329*|RGS6_uc010ttp.1_Nonsense_Mutation_p.R260*|RGS6_uc001xmz.1_Nonsense_Mutation_p.R190*	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	329	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|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		CAGCCAACAGCGAGTAAAAAG	0.458													T	72976881	C	T	72976881	4	4	207	1	0	0	0	0	0	1	0	0	13309	760	27	1	1035	1	RGS6	14	72976881	Nonsense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	11059213	72976881	34372659	52	111603											
TP53BP1	7158	broad.mit.edu	37	chr15	43699759	43699759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacatcaaatacccctAaagcaatatctgcaaggagc	5	14	2	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr15:43699759A>G	uc001zrs.2	-	28	5889	c.5741T>C	c.(5740-5742)TTA>TCA	p.L1914S	TP53BP1_uc010udp.1_Missense_Mutation_p.L1912S|TP53BP1_uc001zrq.3_Missense_Mutation_p.L1917S|TP53BP1_uc001zrr.3_Missense_Mutation_p.L1919S|TP53BP1_uc001zrp.2_Missense_Mutation_p.L331S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1914	BRCT 2.				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			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		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)		AAATACCCCTAAAGCAATATC	0.493								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					G	43699759	A	G	43699759	3	3	207	1	0	0	0	0	1	0	0	0	16380	372	13	3	181	3	TP53BP1	15	43699759	Missense_Mutation	SNP	A	TCGA-D7-6522-01A-11D-1800-08		43699759	58831633	53	111604											
ACAN	176	broad.mit.edu	37	chr15	89382268	89382268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggccaccctggaagtcGtggtgaaaggtgagagcctc	16	10	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr15:89382268G>A	uc010upo.1	+	3	819	c.445G>A	c.(445-447)GTG>ATG	p.V149M	ACAN_uc002bmx.2_Missense_Mutation_p.V149M|ACAN_uc010upp.1_Missense_Mutation_p.V149M|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	149					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGGAAGTCGTGGTGAAAGG	0.557													A	89382268	G	A	89382268	3	1	207	1	0	0	0	0	1	0	0	0	117	1145	40	1	451	1	ACAN	15	89382268	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	45682509	89382268	13149124	54	111605											
ACSM2B	348158	broad.mit.edu	37	chr16	20563552	20563552	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattccaaaagtgagcccaAgatgttcagtatccaacctg	8	10	1	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr16:20563552A>G	uc002dhj.3	-	7	1018	c.808T>C	c.(808-810)TTG>CTG	p.L270L	ACSM2B_uc002dhk.3_Silent_p.L270L|ACSM2B_uc010bwf.1_Silent_p.L270L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	270					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						AGTGAGCCCAAGATGTTCAGT	0.423													G	20563552	A	G	20563552	2	3	207	1	0	0	0	0	0	0	0	1	184	69	3	3		3	ACSM2B	16	20563552	Silent	SNP	A	TCGA-D7-6522-01A-11D-1800-08		20563552	69791201	55	111606											
GTF3C1	2975	broad.mit.edu	37	chr16	27472881	27472881	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcagccgagggactccagGccctggagacaccagacaca	12	14	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr16:27472881G>T	uc002dov.1	-	37	6160	c.6120C>A	c.(6118-6120)GGC>GGA	p.G2040G	GTF3C1_uc002dou.2_Silent_p.G2015G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	2040						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GGGACTCCAGGCCCTGGAGAC	0.483													T	27472881	G	T	27472881	2	4	207	1	0	0	0	0	0	0	0	1	6872	1190	42	5		5	GTF3C1	16	27472881	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	6909329	27472881	62881872	56	111607											
N4BP1	9683	broad.mit.edu	37	chr16	48594664	48594664	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcagagaatggacttaCgtaattgcaacattgctccc	8	10	1	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr16:48594664C>T	uc002efp.2	-	2	2126	c.1889_splice	c.e2+1	p.T630_splice		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				AATGGACTTACGTAATTGCAA	0.338													T	48594664	C	T	48594664	5	4	207	1	0	0	0	0	0	0	1	0	10109	550	19	1	824	1	N4BP1	16	48594664	Splice_Site	SNP	C	TCGA-D7-6522-01A-11D-1800-08	21121783	48594664	41760089	57	111608											
CDH1	999	broad.mit.edu	37	chr16	68847399	68847399	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcattttgaaaacagcaaagGtttgtatggtacctggcaag	11	6	0	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr16:68847399G>T	uc002ewg.1	+	9	1444	c.1320_splice	c.e9+1	p.K440_splice	CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein						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	p.?(3)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		AACAGCAAAGGTTTGTATGGT	0.458			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68847399	G	T	68847399	5	4	207	1	0	0	0	0	0	0	1	0	3095	1275	44	5	1355	5	CDH1	16	68847399	Splice_Site	SNP	G	TCGA-D7-6522-01A-11D-1800-08	20252735	68847399	21507354	58	111609											
P2RX1	5023	broad.mit.edu	37	chr17	3802234	3802234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggacactcaccttgccGtccaccaggatgtcaaagcg	9	15	2	0	rs139414872		TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr17:3802234G>A	uc002fww.2	-	9	1401	c.960C>T	c.(958-960)GAC>GAT	p.D320D		NM_002558	NP_002549	P51575	P2RX1_HUMAN	purinergic receptor P2X1	320	Extracellular (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)|skin(1)	2				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TCACCTTGCCGTCCACCAGGA	0.527													A	3802234	G	A	3802234	2	1	207	1	0	0	0	0	0	0	0	1	11339	1136	40	1		1	P2RX1	17	3802234	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08		3802234	77392976	59	111610											
PLD2	5338	broad.mit.edu	37	chr17	4717978	4717978	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccattcagatgactggaGactggacattatgctcaaga	11	9	2	4			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr17:4717978G>A	uc002fzc.2	+	12	1246	c.1145G>A	c.(1144-1146)AGA>AAA	p.R382K	PLD2_uc010vsj.1_Missense_Mutation_p.R239K|PLD2_uc002fzd.2_Missense_Mutation_p.R382K	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	382					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	GATGACTGGAGACTGGACATT	0.592													A	4717978	G	A	4717978	3	1	207	1	0	0	0	0	1	0	0	0	12046	942	33	4	1187	4	PLD2	17	4717978	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	915744	4717978	76477232	60	111611											
GFAP	2670	broad.mit.edu	37	chr17	42992568	42992568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcagctcagcagccagcGccttgttttgctgttccagg	12	12	2	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr17:42992568G>A	uc002ihq.2	-	1	347	c.287C>T	c.(286-288)GCG>GTG	p.A96V	GFAP_uc002ihr.2_Missense_Mutation_p.A96V|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	96	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				AGCAGCCAGCGCCTTGTTTTG	0.612													A	42992568	G	A	42992568	3	1	207	1	0	0	0	0	1	0	0	0	6337	1087	38	1	1176	1	GFAP	17	42992568	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	38274590	42992568	38202642	61	111612											
ITGB4	3691	broad.mit.edu	37	chr17	73723521	73723521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaacacccaggcggagCtgctggccgcgggctgccag	16	15	0	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr17:73723521C>T	uc002jpg.2	+	4	386	c.199C>T	c.(199-201)CTG>TTG	p.L67L	ITGB4_uc002jph.2_Silent_p.L67L|ITGB4_uc010dgo.2_Silent_p.L67L|ITGB4_uc002jpi.3_Silent_p.L67L|ITGB4_uc010dgp.1_Silent_p.L67L|ITGB4_uc002jpj.2_Silent_p.L67L	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	67	PSI.|Extracellular (Potential).				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			lung(4)	4	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)			CCAGGCGGAGCTGCTGGCCGC	0.672													T	73723521	C	T	73723521	2	4	207	1	0	0	0	0	0	0	0	1	7897	796	28	2		2	ITGB4	17	73723521	Silent	SNP	C	TCGA-D7-6522-01A-11D-1800-08	30730953	73723521	7471689	62	111613											
MYOM1	8736	broad.mit.edu	37	chr18	3188900	3188900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggatgccgtggactgcTtggatgctgtggactgcttg	16	9	0	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr18:3188900T>C	uc002klp.2	-	4	951	c.617A>G	c.(616-618)AAG>AGG	p.K206R	MYOM1_uc002klq.2_Missense_Mutation_p.K206R	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	206	5.|6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CGTGGACTGCTTGGATGCTGT	0.532													C	3188900	T	C	3188900	3	2	207	1	0	0	0	0	1	0	0	0	10091	1609	56	3	4580	3	MYOM1	18	3188900	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08		3188900	74888348	63	111614											
KLHL14	57565	broad.mit.edu	37	chr18	30349740	30349740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccgctccaccagctccGgggccgggatgagggcgaag	17	14	0	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr18:30349740G>A	uc002kxm.1	-	2	1203	c.815C>T	c.(814-816)CCG>CTG	p.P272L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	272	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CACCAGCTCCGGGGCCGGGAT	0.637													A	30349740	G	A	30349740	3	1	207	1	0	0	0	0	1	0	0	0	8370	1116	39	1	1103	1	KLHL14	18	30349740	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	27160840	30349740	47727508	64	111615											
EMR1	2015	broad.mit.edu	37	chr19	6904148	6904148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgcattgcaggctttcatCccaatccagaaggctcccag	9	14	1	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr19:6904148C>A	uc002mfw.2	+	8	942	c.904C>A	c.(904-906)CCC>ACC	p.P302T	EMR1_uc010dvc.2_Missense_Mutation_p.P302T|EMR1_uc010dvb.2_Missense_Mutation_p.P250T|EMR1_uc010xji.1_Missense_Mutation_p.P161T|EMR1_uc010xjj.1_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	302	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					AGGCTTTCATCCCAATCCAGA	0.478													A	6904148	C	A	6904148	3	1	207	1	0	0	0	0	1	0	0	0	5104	855	30	5	934	5	EMR1	19	6904148	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08		6904148	52224835	65	111616											
NDUFA13	51079	broad.mit.edu	37	chr19	19646380	19646380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggctggtggtggatgccGtactgggccccggcgtggag	20	9	0	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr19:19646380G>A	uc010xqy.1	+	7	1091	c.832G>A	c.(832-834)GTA>ATA	p.V278I	YJEFN3_uc002nmt.1_Missense_Mutation_p.V196I|YJEFN3_uc010ecf.1_Missense_Mutation_p.V146I|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	Error:Variant_position_missing_in_Q9P0J0_after_alignment					apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	GGTGGATGCCGTACTGGGCCC	0.692													A	19646380	G	A	19646380	3	1	207	1	0	0	0	0	1	0	0	0	10263	1145	40	1		1	NDUFA13	19	19646380	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	12742232	19646380	39482603	66	111617											
ZNF99	7652	broad.mit.edu	37	chr19	22939932	22939932	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctccacatttgtagggcTtctccccagtatgaactgct	7	12	2	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr19:22939932T>G	uc010xrh.1	-	6	2399	c.2399A>C	c.(2398-2400)AAG>ACG	p.K800T		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGCTTCTCCCCAGT	0.373													G	22939932	T	G	22939932	3	3	207	1	0	0	0	0	1	0	0	0	18201	1609	56	5	721	5	ZNF99	19	22939932	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	3293552	22939932	36189051	67	111618											
ZNF567	163081	broad.mit.edu	37	chr19	37203687	37203687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcacttttcagggtgTcacatgaccaaacctgatgt	7	9	3	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr19:37203687T>G	uc010xtl.1	+	5	363	c.141T>G	c.(139-141)TGT>TGG	p.C47W	ZNF567_uc002oeo.1_Missense_Mutation_p.C47W|ZNF567_uc010xtk.1_Missense_Mutation_p.C47W|ZNF567_uc002oep.3_Missense_Mutation_p.C16W|ZNF567_uc002oeq.1_Missense_Mutation_p.C16W	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTCAGGGTGTCACATGACCA	0.428													G	37203687	T	G	37203687	3	3	207	1	0	0	0	0	1	0	0	0	17995	1673	58	5	54	5	ZNF567	19	37203687	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	14263755	37203687	21925296	68	111619											
ZNF808	388558	broad.mit.edu	37	chr19	53057977	53057977	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagcatgtgacaaagTttttggtcagaaatcagctc	10	6	2	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr19:53057977T>G	uc010epq.1	+	5	1985	c.1808T>G	c.(1807-1809)GTT>GGT	p.V603G	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	603	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTGACAAAGTTTTTGGTCAG	0.383													G	53057977	T	G	53057977	3	3	207	1	0	0	0	0	1	0	0	0	18170	1725	60	5	1818	5	ZNF808	19	53057977	Missense_Mutation	SNP	T	TCGA-D7-6522-01A-11D-1800-08	15854290	53057977	6071006	69	111620											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565264	58565264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccggagcaagggccccCgggagtccgtcccacccagg	13	20	0	0	rs144536843	byFrequency	TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr19:58565264C>T	uc002qrc.1	+	6	1319	c.1072C>T	c.(1072-1074)CGG>TGG	p.R358W		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	358					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAAGGGCCCCCGGGAGTCCGT	0.662													T	58565264	C	T	58565264	3	4	207	1	0	0	0	0	1	0	0	0	18223	643	23	1	1086	1	ZSCAN1	19	58565264	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	5507287	58565264	563719	70	111621											
UBE2M	9040	broad.mit.edu	37	chr19	59067588	59067588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcagtgggtcctcgggGttgggctcctgtggccagta	16	9	1	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr19:59067588G>A	uc002qtl.3	-	6	1015	c.420C>T	c.(418-420)AAC>AAT	p.N140N	CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	140					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)	2		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)		GGTCCTCGGGGTTGGGCTCCT	0.612													A	59067588	G	A	59067588	2	1	207	1	0	0	0	0	0	0	0	1	16862	1252	44	4		4	UBE2M	19	59067588	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	502324	59067588	61395	71	111622											
SFRS15	57466	broad.mit.edu	37	chr21	33068535	33068535	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatctccaggaaagccaCtaaaaaaaggtggataatct	8	9	2	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr21:33068535C>T	uc002ypd.2	-	9	1386	c.960_splice	c.e9-1	p.F320_splice	SFRS15_uc002ype.2_Splice_Site_p.F320_splice|SFRS15_uc010glu.2_Splice_Site_p.F305_splice|SFRS15_uc002ypf.1_Splice_Site	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform							nucleus	nucleotide binding|RNA binding				0						AGGAAAGCCACTAAAAAAAGG	0.403													T	33068535	C	T	33068535	5	4	207	1	0	0	0	0	0	0	1	0	14171	579	20	4	2532	4	SFRS15	21	33068535	Splice_Site	SNP	C	TCGA-D7-6522-01A-11D-1800-08		33068535	15061360	72	111623											
CACNA1I	8911	broad.mit.edu	37	chr22	40015370	40015370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcagccatccgcaccGtgcgcgtcctgaggcccctc	10	19	1	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chr22:40015370G>A	uc003ayc.2	+	4	538	c.538G>A	c.(538-540)GTG>ATG	p.V180M	CACNA1I_uc003ayd.2_Missense_Mutation_p.V180M|CACNA1I_uc003aye.2_Missense_Mutation_p.V95M|CACNA1I_uc003ayf.2_Missense_Mutation_p.V95M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	180	I.|Helical; Name=S4 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CATCCGCACCGTGCGCGTCCT	0.612													A	40015370	G	A	40015370	3	1	207	1	0	0	0	0	1	0	0	0	2546	1145	40	1	552	1	CACNA1I	22	40015370	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		40015370	11289196	73	111624											
P2RY8	286530	broad.mit.edu	37	chrX	1584583	1584583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaagtaataaacaaacGggtccagacagttgttgagg	11	7	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:1584583G>A	uc004cpz.2	-	2	1117	c.869C>T	c.(868-870)CCG>CTG	p.P290L		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	290	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		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)				ATAAACAAACGGGTCCAGACA	0.602			T	CRLF2	B-ALL|Downs associated ALL								A	1584583	G	A	1584583	3	1	207	1	0	0	0	0	1	0	0	0	11355	1116	39	1	214	1	P2RY8	23	1584583	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08		1584583	153685977	74	111625											
MSL3	10943	broad.mit.edu	37	chrX	11793170	11793170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgaggcacattacaGcaccaagaacccccgggcaa	10	14	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:11793170G>A	uc004cuw.2	+	13	1643	c.1538G>A	c.(1537-1539)AGC>AAC	p.S513N	MSL3_uc004cux.2_Missense_Mutation_p.S454N|MSL3_uc011mig.1_Missense_Mutation_p.S364N|MSL3_uc011mih.1_Missense_Mutation_p.S501N|MSL3_uc004cuy.2_Missense_Mutation_p.S347N	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	513					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			ovary(1)	1						GCACATTACAGCACCAAGAAC	0.453													A	11793170	G	A	11793170	3	1	207	1	0	0	0	0	1	0	0	0	9879	971	34	2	1668	2	MSL3	23	11793170	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	10208587	11793170	143477390	75	111626											
CDKL5	6792	broad.mit.edu	37	chrX	18643268	18643268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacccaattccgacagcccTgatcttctgacgttgcagaa	8	13	2	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:18643268T>C	uc004cym.2	+	17	2650	c.2397T>C	c.(2395-2397)CCT>CCC	p.P799P	CDKL5_uc004cyn.2_Silent_p.P799P	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	799					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CCGACAGCCCTGATCTTCTGA	0.478													C	18643268	T	C	18643268	2	2	207	1	0	0	0	0	0	0	0	1	3157	1567	55	3		3	CDKL5	23	18643268	Silent	SNP	T	TCGA-D7-6522-01A-11D-1800-08	6850098	18643268	136627292	76	111627											
KLHL34	257240	broad.mit.edu	37	chrX	21674200	21674200	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagcaacgctgtctcctcGaccacggccagcccatagca	9	17	1	0			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:21674200G>A	uc004czz.1	-	1	2249	c.1707C>T	c.(1705-1707)GTC>GTT	p.V569V		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	569	Kelch 5.									ovary(1)	1						CTGTCTCCTCGACCACGGCCA	0.682													A	21674200	G	A	21674200	2	1	207	1	0	0	0	0	0	0	0	1	8387	1045	37	1		1	KLHL34	23	21674200	Silent	SNP	G	TCGA-D7-6522-01A-11D-1800-08	3030932	21674200	133596360	77	111628											
MAGEB3	4114	broad.mit.edu	37	chrX	30254217	30254217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctgctggtaggtcacGtagtgctctcaagaagcctc	11	10	3	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:30254217G>A	uc004dca.1	+	5	913	c.176G>A	c.(175-177)CGT>CAT	p.R59H		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	59											0						GGTAGGTCACGTAGTGCTCTC	0.428													A	30254217	G	A	30254217	3	1	207	1	0	0	0	0	1	0	0	0	9177	1145	40	1	178	1	MAGEB3	23	30254217	Missense_Mutation	SNP	G	TCGA-D7-6522-01A-11D-1800-08	8580017	30254217	125016343	78	111629											
FAM120C	54954	broad.mit.edu	37	chrX	54161998	54161998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatggtgcccacttgatttCgtggaaggggaggatttcca	13	7	0	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:54161998C>T	uc004dsz.3	-	6	1381	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	FAM120C_uc011moh.1_Missense_Mutation_p.R433Q	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	433										ovary(1)|central_nervous_system(1)	2						CACTTGATTTCGTGGAAGGGG	0.393													T	54161998	C	T	54161998	3	4	207	1	0	0	0	0	1	0	0	0	5418	884	31	1	2036	1	FAM120C	23	54161998	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	23907781	54161998	101108562	79	111630											
MAGEE1	57692	broad.mit.edu	37	chrX	75650723	75650723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccatgtctatgggacAgaactagtggtacttgatcc	10	9	1	3			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:75650723A>G	uc004ecm.1	+	1	2607	c.2400A>G	c.(2398-2400)ACA>ACG	p.T800T		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	800	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						TCTATGGGACAGAACTAGTGG	0.498													G	75650723	A	G	75650723	2	3	207	1	0	0	0	0	0	0	0	1	9185	175	7	3		3	MAGEE1	23	75650723	Silent	SNP	A	TCGA-D7-6522-01A-11D-1800-08	21488725	75650723	79619837	80	111631											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912593	77912593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtagaggcataagcggCctttgtgccaacggacccat	11	12	0	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:77912593C>T	uc004edc.1	-	2	1621	c.1325G>A	c.(1324-1326)GGC>GAC	p.G442D		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	442							nucleic acid binding|zinc ion binding			ovary(1)	1						GCATAAGCGGCCTTTGTGCCA	0.557													T	77912593	C	T	77912593	3	4	207	1	0	0	0	0	1	0	0	0	17588	739	26	2	106	2	ZCCHC5	23	77912593	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	2261870	77912593	77357967	81	111632											
COL4A6	1288	broad.mit.edu	37	chrX	107431078	107431078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggaacgatcaacttacCggaaggcctggcagacctgg	12	12	1	1			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:107431078C>T	uc004enw.3	-	22	1873	c.1770G>A	c.(1768-1770)CCG>CCA	p.P590P	COL4A6_uc004env.3_Silent_p.P589P|COL4A6_uc011msn.1_Silent_p.P589P|COL4A6_uc010npk.2_Silent_p.P589P	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	590	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						ATCAACTTACCGGAAGGCCTG	0.537									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107431078	C	T	107431078	2	4	207	1	0	0	0	0	0	0	0	1	3695	666	23	1		1	COL4A6	23	107431078	Silent	SNP	C	TCGA-D7-6522-01A-11D-1800-08	29518485	107431078	47839482	82	111633											
IL13RA1	3597	broad.mit.edu	37	chrX	117895118	117895118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaaacctgatcctccaCatattaaaaacctctccttc	3	14	1	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:117895118C>T	uc004eqs.2	+	6	737	c.694C>T	c.(694-696)CAT>TAT	p.H232Y	IL13RA1_uc004eqr.1_Missense_Mutation_p.H232Y|IL13RA1_uc004eqt.1_Missense_Mutation_p.H232Y	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	232	Extracellular (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						TGATCCTCCACATATTAAAAA	0.308													T	117895118	C	T	117895118	3	4	207	1	0	0	0	0	1	0	0	0	7629	478	17	4	716	4	IL13RA1	23	117895118	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	10464040	117895118	37375442	83	111634											
SAGE1	55511	broad.mit.edu	37	chrX	134989523	134989523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatggaaaatgaccaacCgcaacctaataacgtattgt	8	8	0	2			TCGA-D7-6522-01A-11D-1800-08	TCGA-D7-6522-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4724ddc-1714-41ed-8d34-d1e7210f4776	94057bd1-d097-442e-ac82-0d54e3f678eb	g.chrX:134989523C>T	uc004ezh.2	+	9	1096	c.929C>T	c.(928-930)CCG>CTG	p.P310L	SAGE1_uc010nry.1_Missense_Mutation_p.P279L|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	310										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AATGACCAACCGCAACCTAAT	0.413													T	134989523	C	T	134989523	3	4	207	1	0	0	0	0	1	0	0	0	13809	652	23	1	959	1	SAGE1	23	134989523	Missense_Mutation	SNP	C	TCGA-D7-6522-01A-11D-1800-08	17094405	134989523	20281037	84	111635											
HSPG2	3339	broad.mit.edu	37	chr1	22198725	22198725	+	Frame_Shift_Del	DEL	T	T	-													gctgccagtagaaggactcaTggccgagttgggcaaagttg							TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:22198725delT	uc001bfj.2	-	33	4215	c.4175delA	c.(4174-4176)CATfs	p.H1392fs	HSPG2_uc009vqd.2_Frame_Shift_Del_p.H1393fs	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1392	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	GAAGGACTCATGGCCGAGTTG	0.597													-	22198725	T	-	22198725	7	5	208	1	0	1	0	1	0	0	0	0	7430	1464	51	0	9260	0	HSPG2	1	22198725	Frame_Shift_Del	DEL	T	TCGA-D7-6524-01A-11D-1800-08		22198725	227051896	1	111636											
EPHA8	2046	broad.mit.edu	37	chr1	22924249	22924249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccatcaaggccctcaaaGccggctacacggagagacag	12	13	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:22924249G>T	uc001bfx.1	+	11	2136	c.2011G>T	c.(2011-2013)GCC>TCC	p.A671S		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	671	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GGCCCTCAAAGCCGGCTACAC	0.662													T	22924249	G	T	22924249	3	4	208	1	0	0	0	0	1	0	0	0	5173	971	34	5	2226	5	EPHA8	1	22924249	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	725524	22924249	226326372	2	111637											
HNRNPR	10236	broad.mit.edu	37	chr1	23637402	23637402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatcttcatagcctccacGatagtcgtgataatcataac	8	10	3	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:23637402G>A	uc001bgr.3	-	11	1606	c.1447C>T	c.(1447-1449)CGT>TGT	p.R483C	HNRNPR_uc001bgo.2_Missense_Mutation_p.R93C|HNRNPR_uc001bgp.3_Missense_Mutation_p.R486C|HNRNPR_uc009vqk.2_Missense_Mutation_p.R385C|HNRNPR_uc001bgs.3_Missense_Mutation_p.R382C|HNRNPR_uc010odw.1_Missense_Mutation_p.R445C|HNRNPR_uc010odx.1_Missense_Mutation_p.R323C|HNRNPR_uc009vql.2_Missense_Mutation_p.R344C	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	483	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		TAGCCTCCACGATAGTCGTGA	0.398													A	23637402	G	A	23637402	3	1	208	1	0	0	0	0	1	0	0	0	7272	1058	37	1	458	1	HNRNPR	1	23637402	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	713153	23637402	225613219	3	111638											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898396	26898396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctggagcctgggcattctGctgtacaccatgctggcagg	13	11	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:26898396G>T	uc001bmr.1	+	19	1972	c.1809G>T	c.(1807-1809)CTG>CTT	p.L603L	RPS6KA1_uc010ofe.1_Silent_p.L511L|RPS6KA1_uc010off.1_Silent_p.L587L|RPS6KA1_uc001bms.1_Silent_p.L612L|RPS6KA1_uc009vsl.1_Silent_p.L446L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	603	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)		TGGGCATTCTGCTGTACACCA	0.627													T	26898396	G	T	26898396	2	4	208	1	0	0	0	0	0	0	0	1	13650	1306	46	5		5	RPS6KA1	1	26898396	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	3260994	26898396	222352225	4	111639											
ARID1A	8289	broad.mit.edu	37	chr1	27107151	27107151	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcagagtttactctgtaCgaatcacggctgttggacat	9	10	3	1	rs139585602		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:27107151C>A	uc001bmv.1	+	20	7135	c.6762C>A	c.(6760-6762)TAC>TAA	p.Y2254*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Y2037*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Y1100*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Y582*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Y496*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2254					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		TTACTCTGTACGAATCACGGC	0.517			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27107151	C	A	27107151	4	1	208	1	0	0	0	0	0	1	0	0	913	547	19	5	6840	5	ARID1A	1	27107151	Nonsense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	208755	27107151	222143470	5	111640											
KIAA0754	643314	broad.mit.edu	37	chr1	39877622	39877622	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcccacgttgatatcatgaGagacacttccactgttagca	8	11	1	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:39877622G>A	uc009vvt.1	+	1	2447	c.1685G>A	c.(1684-1686)AGA>AAA	p.R562K	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	426											0	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)			GATATCATGAGAGACACTTCC	0.423													A	39877622	G	A	39877622	3	1	208	1	0	0	0	0	1	0	0	0	8192	942	33	4	1687	4	KIAA0754	1	39877622	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	12770471	39877622	209372999	6	111641											
UQCRH	7388	broad.mit.edu	37	chr1	46782256	46782256	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttaacaacttgaaataAatgtgtggacttaattcacc	5	8	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:46782256A>G	uc001cpp.2	+	4	335	c.276A>G	c.(274-276)TAA>TAG	p.*92*	UQCRH_uc001cpq.2_RNA	NM_006004	NP_005995	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	92					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity				0	Acute lymphoblastic leukemia(166;0.155)					ACTTGAAATAAATGTGTGGAC	0.383													G	46782256	A	G	46782256	2	3	208	1	0	0	0	0	0	0	0	1	17019	21	1	3		3	UQCRH	1	46782256	Silent	SNP	A	TCGA-D7-6524-01A-11D-1800-08	6904634	46782256	202468365	7	111642											
FAM151A	338094	broad.mit.edu	37	chr1	55089019	55089019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacacaggtaatgccgGcaaacacccacttgacctga	8	14	0	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:55089019G>A	uc001cxn.2	-	1	182	c.50C>T	c.(49-51)GCC>GTC	p.A17V	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	17	Helical; (Potential).					integral to membrane					0						GGTAATGCCGGCAAACACCCA	0.602													A	55089019	G	A	55089019	3	1	208	1	0	0	0	0	1	0	0	0	5458	1203	42	2	1739	2	FAM151A	1	55089019	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	8306763	55089019	194161602	8	111643											
NEGR1	257194	broad.mit.edu	37	chr1	72058615	72058615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatggatcttgtgctaaaAttttgaataataattccttg	7	4	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:72058615A>C	uc001dfw.2	-	6	925	c.825T>G	c.(823-825)AAT>AAG	p.N275K	NEGR1_uc001dfv.2_Missense_Mutation_p.N147K|NEGR1_uc010oqs.1_Missense_Mutation_p.N231K	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	275	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		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)		TTGTGCTAAAATTTTGAATAA	0.383													C	72058615	A	C	72058615	3	2	208	1	0	0	0	0	1	0	0	0	10317	98	4	5	247	5	NEGR1	1	72058615	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08	16969596	72058615	177192006	9	111644											
TNNI3K	51086	broad.mit.edu	37	chr1	74836071	74836071	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaattatacatcgtgacttGaacaggtatttttttcctaa	5	8	0	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:74836071G>T	uc001dgf.1	+	17	1818	c.1767G>T	c.(1765-1767)TTG>TTT	p.L589F	TNNI3K_uc001dgc.1_Missense_Mutation_p.L690F|TNNI3K_uc001dgd.2_Missense_Mutation_p.L690F|TNNI3K_uc001dge.1_Missense_Mutation_p.L690F	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	589	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCGTGACTTGAACAGGTATT	0.358													T	74836071	G	T	74836071	3	4	208	1	0	0	0	0	1	0	0	0	16326	1281	45	5	2188	5	TNNI3K	1	74836071	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	2777456	74836071	174414550	10	111645											
C1orf173	127254	broad.mit.edu	37	chr1	75037596	75037596	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcctgggtccttagcacGacatccactcctccttgccc	7	18	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:75037596G>A	uc001dgg.2	-	14	4017	c.3798C>T	c.(3796-3798)GTC>GTT	p.V1266V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1266	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCCTTAGCACGACATCCACTC	0.577													A	75037596	G	A	75037596	2	1	208	1	0	0	0	0	0	0	0	1	2014	1045	37	1		1	C1orf173	1	75037596	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	201525	75037596	174213025	11	111646											
PKN2	5586	broad.mit.edu	37	chr1	89236101	89236101	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaaaaatagaagtcataCgaatgcagattcttcaggca	8	7	3	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:89236101C>T	uc001dmn.2	+	4	913	c.571C>T	c.(571-573)CGA>TGA	p.R191*	PKN2_uc001dmm.1_Nonsense_Mutation_p.R191*|PKN2_uc010osp.1_Nonsense_Mutation_p.R191*|PKN2_uc010osq.1_Nonsense_Mutation_p.R34*|PKN2_uc009wcv.2_Nonsense_Mutation_p.R191*	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	191	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGAAGTCATACGAATGCAGAT	0.363													T	89236101	C	T	89236101	4	4	208	1	0	0	0	0	0	1	0	0	11980	528	19	1	585	1	PKN2	1	89236101	Nonsense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	14198505	89236101	160014520	12	111647											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474330	145474330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgaggcagaaactgagCcgcatggagccagtggagct	17	9	0	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:145474330C>T	uc001enq.1	+	4	2295	c.1002C>T	c.(1000-1002)AGC>AGT	p.S334S	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	334	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAACTGAGCCGCATGGAGC	0.652													T	145474330	C	T	145474330	2	4	208	1	0	0	0	0	0	0	0	1	662	738	26	2		2	ANKRD34A	1	145474330	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	56238229	145474330	103776291	13	111648											
SPTA1	6708	broad.mit.edu	37	chr1	158623143	158623143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggagcatcgggaactcatCgtgggccagtcttctgacat	13	10	3	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:158623143C>T	uc001fst.1	-	22	3308	c.3109G>A	c.(3109-3111)GAT>AAT	p.D1037N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1037					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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGGAACTCATCGTGGGCCAGT	0.572													T	158623143	C	T	158623143	3	4	208	1	0	0	0	0	1	0	0	0	15115	884	31	1	4274	1	SPTA1	1	158623143	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	13148813	158623143	90627478	14	111649											
FAM5B	57795	broad.mit.edu	37	chr1	177199156	177199156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgagcagcatgcctcCgtagctggccagcatcccct	10	18	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:177199156C>T	uc001glf.2	+	2	456	c.144C>T	c.(142-144)TCC>TCT	p.S48S		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	48						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						AGCATGCCTCCGTAGCTGGCC	0.682													T	177199156	C	T	177199156	2	4	208	1	0	0	0	0	0	0	0	1	5593	639	23	1		1	FAM5B	1	177199156	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	18576013	177199156	72051465	15	111650											
GUK1	2987	broad.mit.edu	37	chr1	228333243	228333243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcctgtggtgctgagCgggccttcgggagctgggaa	18	11	0	1	rs140072078		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr1:228333243C>T	uc001hsh.2	+	3	333	c.30C>T	c.(28-30)AGC>AGT	p.S10S	GUK1_uc001hsi.2_Silent_p.S31S|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Silent_p.S10S	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	10	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				TGGTGCTGAGCGGGCCTTCGG	0.652													T	228333243	C	T	228333243	2	4	208	1	0	0	0	0	0	0	0	1	6900	767	27	1		1	GUK1	1	228333243	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	51134087	228333243	20917378	16	111651											
PXDN	7837	broad.mit.edu	37	chr2	1643087	1643087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatacctgggtattttccGtggtcttgttttcttggtcg	10	9	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:1643087G>A	uc002qxa.2	-	20	4124	c.4060C>T	c.(4060-4062)CGG>TGG	p.R1354W		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1354					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			pancreas(6)|ovary(2)	8	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)		GGTATTTTCCGTGGTCTTGTT	0.577													A	1643087	G	A	1643087	3	1	208	1	0	0	0	0	1	0	0	0	12847	1144	40	1	395	1	PXDN	2	1643087	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		1643087	241556286	17	111652											
GALNT14	79623	broad.mit.edu	37	chr2	31165143	31165143	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccaagctttgtcgatcacGaagagccctccagctatgat	8	12	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:31165143G>A	uc002rnr.2	-	9	1474	c.855C>T	c.(853-855)TTC>TTT	p.F285F	GALNT14_uc002rnq.2_Silent_p.F265F|GALNT14_uc002rns.2_Silent_p.F290F|GALNT14_uc010ymr.1_Silent_p.F250F|GALNT14_uc010ezo.1_Silent_p.F252F|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	285	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGTCGATCACGAAGAGCCCTC	0.498													A	31165143	G	A	31165143	2	1	208	1	0	0	0	0	0	0	0	1	6212	1049	37	1		1	GALNT14	2	31165143	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	29522056	31165143	212034230	18	111653											
FAM136A	84908	broad.mit.edu	37	chr2	70527986	70527986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcacctggaacttctccaGctcactggtgaccaaagcct	7	15	3	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:70527986G>C	uc002sgq.3	-	2	291	c.214C>G	c.(214-216)CTG>GTG	p.L72V	FAM136A_uc010fdp.2_RNA	NM_032822	NP_116211	Q96C01	F136A_HUMAN	hypothetical protein LOC84908	72						mitochondrion	protein binding				0						AACTTCTCCAGCTCACTGGTG	0.517													C	70527986	G	C	70527986	3	2	208	1	0	0	0	0	1	0	0	0	5450	962	34	5	210	5	FAM136A	2	70527986	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	39362843	70527986	172671387	19	111654											
CCDC148	130940	broad.mit.edu	37	chr2	159028732	159028732	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctatgaagtccagcttctcGaagtgctaactcgaagcgaa	9	10	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:159028732G>A	uc002tzq.2	-	14	1932	c.1669C>T	c.(1669-1671)CGA>TGA	p.R557*	CCDC148_uc002tzr.2_Nonsense_Mutation_p.R405*|CCDC148_uc010foh.2_Nonsense_Mutation_p.R270*	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	557										ovary(2)	2						CCAGCTTCTCGAAGTGCTAAC	0.308													A	159028732	G	A	159028732	4	1	208	1	0	0	0	0	0	1	0	0	2782	1066	37	1	110	1	CCDC148	2	159028732	Nonsense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	88500746	159028732	84170641	20	111655											
LRP2	4036	broad.mit.edu	37	chr2	170063685	170063685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgactttaagaagaacaCggcggtaagtagtattgatc	11	6	0	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:170063685C>T	uc002ues.2	-	39	6758	c.6545G>A	c.(6544-6546)CGT>CAT	p.R2182H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2182	LDL-receptor class B 21.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	AAGAAGAACACGGCGGTAAGT	0.418													T	170063685	C	T	170063685	3	4	208	1	0	0	0	0	1	0	0	0	8956	536	19	1	7586	1	LRP2	2	170063685	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	11034953	170063685	73135688	21	111656											
TTN	7273	broad.mit.edu	37	chr2	179613044	179613044	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctaaagaaatggaattttCatcaatactacttttctcca	3	8	4	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:179613044C>A	uc002unb.2	-	46	14307	c.14083G>T	c.(14083-14085)GAA>TAA	p.E4695*	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAATTTTCATCAATACTA	0.303													A	179613044	C	A	179613044	4	1	208	1	0	0	0	0	0	1	0	0	16732	835	29	5	96214	5	TTN	2	179613044	Nonsense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	9549359	179613044	63586329	22	111657											
BMPR2	659	broad.mit.edu	37	chr2	203420137	203420137	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgactataggggaaaaaaaCcgaaattcaattaactatga	7	5	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:203420137C>A	uc002uzf.3	+	12	2897	c.1749C>A	c.(1747-1749)AAC>AAA	p.N583K	BMPR2_uc010ftr.2_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	583	Cytoplasmic (Potential).				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	p.N583fs*44(1)		ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GGGAAAAAAACCGAAATTCAA	0.433													A	203420137	C	A	203420137	3	1	208	1	0	0	0	0	1	0	0	0	1471	506	18	5	1795	5	BMPR2	2	203420137	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	23807093	203420137	39779236	23	111658											
FEV	54738	broad.mit.edu	37	chr2	219846752	219846752	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtaggcgtagcgcttgccAtgcaccttgctcatgatgtt	12	11	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:219846752A>G	uc002vji.1	-	3	936	c.354T>C	c.(352-354)CAT>CAC	p.H118H		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	118	ETS.				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGCTTGCCATGCACCTTGC	0.567			T	EWSR1| FUS	Ewing sarcoma								G	219846752	A	G	219846752	2	3	208	1	0	0	0	0	0	0	0	1	5822	214	8	3		3	FEV	2	219846752	Silent	SNP	A	TCGA-D7-6524-01A-11D-1800-08	16426615	219846752	23352621	24	111659											
USP40	55230	broad.mit.edu	37	chr2	234431906	234431906	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatgtcttccttggggAtggccgtccaaccctcccca	8	17	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr2:234431906A>T	uc010zmr.1	-	15	2144	c.2144T>A	c.(2143-2145)ATC>AAC	p.I715N	USP40_uc010zmt.1_Missense_Mutation_p.I359N	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	703					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		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)		TTCCTTGGGGATGGCCGTCCA	0.502													T	234431906	A	T	234431906	3	4	208	1	0	0	0	0	1	0	0	0	17069	333	12	5	1667	5	USP40	2	234431906	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08	14585154	234431906	8767467	25	111660											
STAC	6769	broad.mit.edu	37	chr3	36534690	36534690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccaatgggccaggaggCgggtatgacctaaggaaacg	16	8	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:36534690C>T	uc003cgh.1	+	6	774	c.735C>T	c.(733-735)GGC>GGT	p.G245G	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.G184G	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	245					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						GGCCAGGAGGCGGGTATGACC	0.507													T	36534690	C	T	36534690	2	4	208	1	0	0	0	0	0	0	0	1	15238	755	27	1		1	STAC	3	36534690	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08		36534690	161487740	26	111661											
CTNNB1	1499	broad.mit.edu	37	chr3	41266453	41266453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccttttccagatattgatGgacagtatgcaatgactcga	8	8	0	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:41266453G>A	uc010hia.1	+	5	406	c.250G>A	c.(250-252)GGA>AGA	p.G84R	CTNNB1_uc003ckp.2_Missense_Mutation_p.G84R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G84R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G84R|CTNNB1_uc011azf.1_Missense_Mutation_p.G77R|CTNNB1_uc011azg.1_Missense_Mutation_p.G12R|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	84					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(4)|p.T3_A126del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_R90del(1)|p.?(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.A20_S111del(1)|p.A20_R151del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGATATTGATGGACAGTATGC	0.418		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41266453	G	A	41266453	3	1	208	1	0	0	0	0	1	0	0	0	4016	1349	47	4	260	4	CTNNB1	3	41266453	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	4731763	41266453	156755977	27	111662											
CTNNB1	1499	broad.mit.edu	37	chr3	41266572	41266572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcccactaatgtccaGcgtttggctgaaccatcaca	7	14	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:41266572G>T	uc010hia.1	+	5	525	c.369G>T	c.(367-369)CAG>CAT	p.Q123H	CTNNB1_uc003ckp.2_Missense_Mutation_p.Q123H|CTNNB1_uc003ckq.2_Missense_Mutation_p.Q123H|CTNNB1_uc003ckr.2_Missense_Mutation_p.Q123H|CTNNB1_uc011azf.1_Missense_Mutation_p.Q116H|CTNNB1_uc011azg.1_Missense_Mutation_p.Q51H|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	123					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(4)|p.T3_A126del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.D17_A126del(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTAATGTCCAGCGTTTGGCTG	0.468		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				T	41266572	G	T	41266572	3	4	208	1	0	0	0	0	1	0	0	0	4016	962	34	5	379	5	CTNNB1	3	41266572	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	119	41266572	156755858	28	111663											
ADAMTS9	56999	broad.mit.edu	37	chr3	64633635	64633635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttccaggctcgcactccGtcccatcggcccagggtgtg	11	17	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:64633635G>A	uc003dmg.2	-	11	1723	c.1691C>T	c.(1690-1692)ACG>ATG	p.T564M	ADAMTS9_uc011bfo.1_Missense_Mutation_p.T536M|ADAMTS9_uc003dmh.1_Missense_Mutation_p.T393M|ADAMTS9_uc003dmk.1_Missense_Mutation_p.T564M	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	564	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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													A	64633635	G	A	64633635	3	1	208	1	0	0	0	0	1	0	0	0	273	1145	40	1	4232	1	ADAMTS9	3	64633635	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	23367063	64633635	133388795	29	111664											
ROBO2	6092	broad.mit.edu	37	chr3	77526667	77526667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggggacacccagaacccaCcatctactggaaaaaagaca	8	14	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:77526667C>G	uc003dpy.3	+	3	1134	c.491C>G	c.(490-492)ACC>AGC	p.T164S	ROBO2_uc003dpz.2_Missense_Mutation_p.T164S|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T164S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	164	Ig-like C2-type 2.|Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		CCAGAACCCACCATCTACTGG	0.458													G	77526667	C	G	77526667	3	3	208	1	0	0	0	0	1	0	0	0	13514	507	18	5	503	5	ROBO2	3	77526667	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	12893032	77526667	120495763	30	111665											
ATP13A3	79572	broad.mit.edu	37	chr3	194158159	194158159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcaaagcagaagaaaatGggaactggcgaacaattcct	11	7	0	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr3:194158159G>T	uc003fty.3	-	18	2282	c.1880C>A	c.(1879-1881)CCA>CAA	p.P627Q	ATP13A3_uc003ftz.1_Missense_Mutation_p.P333Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	627					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	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)		AGAAGAAAATGGGAACTGGCG	0.433													T	194158159	G	T	194158159	3	4	208	1	0	0	0	0	1	0	0	0	1125	1348	47	5	1860	5	ATP13A3	3	194158159	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	116631492	194158159	3864271	31	111666											
ANK2	287	broad.mit.edu	37	chr4	114254248	114254248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcactttgcggcccttcGaggaaaggaaagggaactgg	13	11	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr4:114254248G>A	uc003ibe.3	+	29	3363	c.3263G>A	c.(3262-3264)CGA>CAA	p.R1088Q	ANK2_uc003ibd.3_Missense_Mutation_p.R1079Q|ANK2_uc003ibf.3_Missense_Mutation_p.R1088Q|ANK2_uc011cgc.1_Missense_Mutation_p.R264Q|ANK2_uc003ibg.3_Missense_Mutation_p.R83Q|ANK2_uc003ibc.2_Missense_Mutation_p.R1064Q|ANK2_uc011cgb.1_Missense_Mutation_p.R1103Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1055	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCGGCCCTTCGAGGAAAGGAA	0.488													A	114254248	G	A	114254248	3	1	208	1	0	0	0	0	1	0	0	0	621	1058	37	1	3442	1	ANK2	4	114254248	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		114254248	76900028	32	111667											
IRF2	3660	broad.mit.edu	37	chr4	185310094	185310094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcctctttgatggtgaCctggaggtccggtttgttgg	14	9	2	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr4:185310094C>T	uc003iwf.3	-	9	1068	c.868G>A	c.(868-870)GTC>ATC	p.V290I		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	290					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			ovary(1)	1		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)		TTGATGGTGACCTGGAGGTCC	0.567													T	185310094	C	T	185310094	3	4	208	1	0	0	0	0	1	0	0	0	7828	507	18	4	185	4	IRF2	4	185310094	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	71055846	185310094	5844182	33	111668											
FAT1	2195	broad.mit.edu	37	chr4	187516845	187516845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacactgctgcctcaccaTtgtcatcgcacgattcggac	8	15	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr4:187516845T>C	uc003izf.2	-	26	13324	c.13136A>G	c.(13135-13137)AAT>AGT	p.N4379S	FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.N270S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4379	PTB-like motif (By similarity).|Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TGCCTCACCATTGTCATCGCA	0.512										HNSCC(5;0.00058)			C	187516845	T	C	187516845	3	2	208	1	0	0	0	0	1	0	0	0	5689	1493	52	3	638	3	FAT1	4	187516845	Missense_Mutation	SNP	T	TCGA-D7-6524-01A-11D-1800-08	2206751	187516845	3637431	34	111669											
KIAA0947	23379	broad.mit.edu	37	chr5	5463370	5463370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtccatttcgggaaaCgactggctcctcatcacatg	9	11	2	0	rs148095940	by1000genomes	TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:5463370C>T	uc003jdm.3	+	13	4145	c.3923C>T	c.(3922-3924)ACG>ATG	p.T1308M		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1308										ovary(1)|central_nervous_system(1)	2						TTTCGGGAAACGACTGGCTCC	0.443													T	5463370	C	T	5463370	3	4	208	1	0	0	0	0	1	0	0	0	8202	536	19	1	3973	1	KIAA0947	5	5463370	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08		5463370	175451890	35	111670											
GZMA	3001	broad.mit.edu	37	chr5	54405923	54405923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggccttgaaaataaatgCggagaccctcgtgggcctgg	13	9	0	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:54405923C>T	uc003jpm.2	+	5	739	c.702C>T	c.(700-702)TGC>TGT	p.C234C		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	234	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			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAAATAAATGCGGAGACCCTC	0.468													T	54405923	C	T	54405923	2	4	208	1	0	0	0	0	0	0	0	1	6915	776	27	1		1	GZMA	5	54405923	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	48942553	54405923	126509337	36	111671											
DMGDH	29958	broad.mit.edu	37	chr5	78347179	78347179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcccatgttccatctgAcctggctttcagagaagtta	8	11	2	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:78347179A>G	uc003kfs.2	-	5	682	c.676T>C	c.(676-678)TCA>CCA	p.S226P	DMGDH_uc011cte.1_Missense_Mutation_p.S76P|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	226					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTTCCATCTGACCTGGCTTTC	0.423													G	78347179	A	G	78347179	3	3	208	1	0	0	0	0	1	0	0	0	4581	275	10	3	1972	3	DMGDH	5	78347179	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08	23941256	78347179	102568081	37	111672											
HARS	3035	broad.mit.edu	37	chr5	140054699	140054699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctgtgtctccgtggtcCgtatcttctcctccaaagcc	8	16	3	0	rs147185134		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:140054699C>T	uc003lgv.2	-	11	1296	c.1214G>A	c.(1213-1215)CGG>CAG	p.R405Q	DND1_uc003lgt.2_5'Flank|HARS_uc003lgu.2_Missense_Mutation_p.R336Q|HARS_uc011czm.1_Missense_Mutation_p.R365Q|HARS_uc003lgw.2_Missense_Mutation_p.R385Q|HARS_uc011czn.1_Missense_Mutation_p.R345Q|HARS_uc010jfu.2_Intron|HARS_uc011czo.1_Missense_Mutation_p.R331Q|HARS_uc011czp.1_Missense_Mutation_p.R291Q	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	405					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTCCGTGGTCCGTATCTTCTC	0.507													T	140054699	C	T	140054699	3	4	208	1	0	0	0	0	1	0	0	0	6959	652	23	1	327	1	HARS	5	140054699	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	61707520	140054699	40860561	38	111673											
PCDHB7	56129	broad.mit.edu	37	chr5	140554375	140554375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcgagcctccgcgctcGgccaccgccacgctgcacgt	12	18	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:140554375G>A	uc003lit.2	+	1	2133	c.1959G>A	c.(1957-1959)TCG>TCA	p.S653S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	653	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCGCGCTCGGCCACCGCCA	0.701													A	140554375	G	A	140554375	2	1	208	1	0	0	0	0	0	0	0	1	11547	1103	39	1		1	PCDHB7	5	140554375	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	499676	140554375	40360885	39	111674											
PDGFRB	5159	broad.mit.edu	37	chr5	149499084	149499084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaccccgtttgatggcaTtgtagaactgctcgttcatg	11	9	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:149499084T>C	uc003lro.2	-	20	3213	c.2744A>G	c.(2743-2745)AAT>AGT	p.N915S	PDGFRB_uc010jhd.2_Missense_Mutation_p.N754S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	915	Cytoplasmic (Potential).|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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	TTTGATGGCATTGTAGAACTG	0.493			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								C	149499084	T	C	149499084	3	2	208	1	0	0	0	0	1	0	0	0	11662	1493	52	3	592	3	PDGFRB	5	149499084	Missense_Mutation	SNP	T	TCGA-D7-6524-01A-11D-1800-08	8944709	149499084	31416176	40	111675											
SOX30	11063	broad.mit.edu	37	chr5	157078284	157078284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatccgggccccagggGggaccgtgtggagcgtcaaa	17	11	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:157078284G>A	uc003lxb.1	-	1	1145	c.803C>T	c.(802-804)CCC>CTC	p.P268L	SOX30_uc003lxc.1_Missense_Mutation_p.P268L|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	268					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			GGCCCCAGGGGGGACCGTGTG	0.602													A	157078284	G	A	157078284	3	1	208	1	0	0	0	0	1	0	0	0	14952	1232	43	4	1478	4	SOX30	5	157078284	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	7579200	157078284	23836976	41	111676											
RNF130	55819	broad.mit.edu	37	chr5	179393912	179393912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggccaagggagttgtcGccggcgaggtcgccgagggc	18	11	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr5:179393912G>A	uc003mll.1	-	7	1451	c.1044C>T	c.(1042-1044)GGC>GGT	p.G348G	RNF130_uc003mlm.1_Silent_p.G348G	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	ring finger protein 130 precursor	348	Cytoplasmic (Potential).				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			lung(2)|ovary(1)	3	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAGTTGTCGCCGGCGAGGT	0.537													A	179393912	G	A	179393912	2	1	208	1	0	0	0	0	0	0	0	1	13438	1074	38	1		1	RNF130	5	179393912	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	22315628	179393912	1521348	42	111677											
FTSJD2	23070	broad.mit.edu	37	chr6	37414202	37414202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgaccaggagctgaacGtggactggcgagatgagcca	15	9	0	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:37414202G>A	uc003ons.2	+	4	674	c.421G>A	c.(421-423)GTG>ATG	p.V141M	FTSJD2_uc010jwu.2_Missense_Mutation_p.V141M	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	141					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAGCTGAACGTGGACTGGCG	0.502													A	37414202	G	A	37414202	3	1	208	1	0	0	0	0	1	0	0	0	6091	1145	40	1	431	1	FTSJD2	6	37414202	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		37414202	133700865	43	111678											
C6orf153	88745	broad.mit.edu	37	chr6	42992783	42992783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaagtggggactaagaCgtacaaacaattggtagctg	13	7	0	1	rs140642066	byFrequency	TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:42992783C>T	uc003otp.1	+	2	199	c.191C>T	c.(190-192)ACG>ATG	p.T64M		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	64					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGACTAAGACGTACAAACAA	0.458													T	42992783	C	T	42992783	3	4	208	1	0	0	0	0	1	0	0	0	2338	536	19	1	197	1	C6orf153	6	42992783	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	5578581	42992783	128122284	44	111679											
GPR6	2830	broad.mit.edu	37	chr6	110300361	110300361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgactcccaggtggtggtaGtggcggccgaaggagcggcg	19	10	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:110300361G>T	uc011eaw.1	+	2	226	c.46G>T	c.(46-48)GTG>TTG	p.V16L	GPR6_uc011eav.1_Missense_Mutation_p.V31L|GPR6_uc003ptu.2_Missense_Mutation_p.V16L	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	16	Poly-Val.|Extracellular (Potential).					integral to plasma membrane					0		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)		ggtggtggtagtggcggccga	0.488													T	110300361	G	T	110300361	3	4	208	1	0	0	0	0	1	0	0	0	6701	1029	36	5	48	5	GPR6	6	110300361	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	67307578	110300361	60814706	45	111680											
REV3L	5980	broad.mit.edu	37	chr6	111654434	111654434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacgagaacagagttgctaTagaagcgggattcaggctcc	12	8	1	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:111654434T>C	uc003puy.3	-	23	8140	c.7817A>G	c.(7816-7818)TAT>TGT	p.Y2606C	REV3L_uc003pux.3_Missense_Mutation_p.Y2528C|REV3L_uc003puz.3_Missense_Mutation_p.Y2528C|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2606					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		AGAGTTGCTATAGAAGCGGGA	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	111654434	T	C	111654434	3	2	208	1	0	0	0	0	1	0	0	0	13240	1406	49	3	1615	3	REV3L	6	111654434	Missense_Mutation	SNP	T	TCGA-D7-6524-01A-11D-1800-08	1354073	111654434	59460633	46	111681											
SYNE1	23345	broad.mit.edu	37	chr6	152671459	152671459	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgactttcgcctccagactGaagacatgctcctgcaaaac	7	13	0	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:152671459G>T	uc010kiw.2	-	72	12347	c.11745C>A	c.(11743-11745)TTC>TTA	p.F3915L	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.F3915L|SYNE1_uc010kja.1_Missense_Mutation_p.F620L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3915	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCAGACTGAAGACATGCT	0.468										HNSCC(10;0.0054)			T	152671459	G	T	152671459	3	4	208	1	0	0	0	0	1	0	0	0	15442	1281	45	5	15021	5	SYNE1	6	152671459	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	41017025	152671459	18443608	47	111682											
SYNE1	23345	broad.mit.edu	37	chr6	152708291	152708291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcatcctctgtcttttcGtagagctccctggacttcgc	8	14	3	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:152708291G>A	uc010kiw.2	-	54	9005	c.8403C>T	c.(8401-8403)TAC>TAT	p.Y2801Y	SYNE1_uc003qot.3_Silent_p.Y2808Y|SYNE1_uc003qou.3_Silent_p.Y2801Y|SYNE1_uc010kjb.1_Silent_p.Y2784Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2801	Potential.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTCTTTTCGTAGAGCTCCC	0.463										HNSCC(10;0.0054)			A	152708291	G	A	152708291	2	1	208	1	0	0	0	0	0	0	0	1	15442	1140	40	1		1	SYNE1	6	152708291	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	36832	152708291	18406776	48	111683											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844054	166844054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggagctccccaccacGcatcagctccattaccaggt	8	17	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr6:166844054G>A	uc003qvb.1	-	16	1687	c.1468C>T	c.(1468-1470)CGT>TGT	p.R490C	RPS6KA2_uc011ego.1_Missense_Mutation_p.R401C|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R401C|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R498C|RPS6KA2_uc003qvd.1_Missense_Mutation_p.R515C	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	490	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|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		TCCCCACCACGCATCAGCTCC	0.582													A	166844054	G	A	166844054	3	1	208	1	0	0	0	0	1	0	0	0	13651	1087	38	1	757	1	RPS6KA2	6	166844054	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	14135763	166844054	4271013	49	111684											
FBXL13	222235	broad.mit.edu	37	chr7	102453857	102453857	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaggctcctttagatgAtgttatgttgtcaagctctg	9	7	3	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr7:102453857A>T	uc003vaq.2	-	20	2567	c.2140T>A	c.(2140-2142)TCA>ACA	p.S714T	FBXL13_uc010liq.1_Missense_Mutation_p.S247T|FBXL13_uc010lir.1_Missense_Mutation_p.S669T|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.S686T|FAM185A_uc011klh.1_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	714											0						CCTTTAGATGATGTTATGTTG	0.423													T	102453857	A	T	102453857	3	4	208	1	0	0	0	0	1	0	0	0	5709	333	12	5	71	5	FBXL13	7	102453857	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08		102453857	56684806	50	111685											
SLC37A3	84255	broad.mit.edu	37	chr7	140037083	140037083	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaggggcacacacttaCcatgagaatgaaaaagtaga	9	6	0	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr7:140037083C>T	uc003vvo.2	-	14	1558	c.1392_splice	c.e14+1	p.M464_splice	SLC37A3_uc003vvn.2_Intron|SLC37A3_uc003vvp.2_Splice_Site_p.D364_splice|SLC37A3_uc010lnh.2_Splice_Site_p.M448_splice	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate						carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					CACACACTTACCATGAGAATG	0.323													T	140037083	C	T	140037083	5	4	208	1	0	0	0	0	0	0	1	0	14599	521	18	4	248	4	SLC37A3	7	140037083	Splice_Site	SNP	C	TCGA-D7-6524-01A-11D-1800-08	37583226	140037083	19101580	51	111686											
MGAM	8972	broad.mit.edu	37	chr7	141727496	141727496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccttagacaacatgagGgaagtcgtggagagaaatcg	14	6	0	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr7:141727496G>A	uc003vwy.2	+	10	1236	c.1182G>A	c.(1180-1182)AGG>AGA	p.R394R		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	394	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAACATGAGGGAAGTCGTGG	0.453													A	141727496	G	A	141727496	2	1	208	1	0	0	0	0	0	0	0	1	9541	1223	43	4		4	MGAM	7	141727496	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	1690413	141727496	17411167	52	111687											
DLGAP2	9228	broad.mit.edu	37	chr8	1626397	1626397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacggacgttttaaacGttctaacagcgtcacggccg	10	12	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:1626397G>A	uc003wpl.2	+	9	2163	c.2066G>A	c.(2065-2067)CGT>CAT	p.R689H	DLGAP2_uc003wpm.2_Missense_Mutation_p.R675H	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	768					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		CGTTTTAAACGTTCTAACAGC	0.557													A	1626397	G	A	1626397	3	1	208	1	0	0	0	0	1	0	0	0	4560	1145	40	1	2096	1	DLGAP2	8	1626397	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		1626397	144737625	53	111688											
NKX3-1	4824	broad.mit.edu	37	chr8	23538802	23538802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggatagctgttatacaCggagaccagggaggcccggg	16	8	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:23538802C>T	uc011kzx.1	-	2	685	c.637G>A	c.(637-639)GTG>ATG	p.V213M	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	213					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTGTTATACACGGAGACCAGG	0.547													T	23538802	C	T	23538802	3	4	208	1	0	0	0	0	1	0	0	0	10455	536	19	1	71	1	NKX3-1	8	23538802	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	21912405	23538802	122825220	54	111689											
MYST3	7994	broad.mit.edu	37	chr8	41906091	41906091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccagaggcagcactgcctccGaataatgcagacacatcctt	8	14	0	2	rs141667008		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:41906091G>T	uc010lxb.2	-	3	949	c.405C>A	c.(403-405)TTC>TTA	p.F135L	MYST3_uc010lxc.2_Missense_Mutation_p.F135L|MYST3_uc003xon.3_Missense_Mutation_p.F135L|MYST3_uc010lxd.2_Missense_Mutation_p.F135L	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	135	H15.|Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CACTGCCTCCGAATAATGCAG	0.493													T	41906091	G	T	41906091	3	4	208	1	0	0	0	0	1	0	0	0	10104	1049	37	5	5673	5	MYST3	8	41906091	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	18367289	41906091	104457931	55	111690											
TRPS1	7227	broad.mit.edu	37	chr8	116599450	116599450	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagacacaggcgtcagCagccccaggcttgcttgggt	14	13	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr8:116599450C>A	uc003ynz.2	-	4	2898	c.2439G>T	c.(2437-2439)CTG>CTT	p.L813L	TRPS1_uc011lhy.1_Silent_p.L817L|TRPS1_uc003yny.2_Silent_p.L826L|TRPS1_uc010mcy.2_Silent_p.L813L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	813	Mediates interaction with GLI3.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			CAGGCGTCAGCAGCCCCAGGC	0.577									Langer-Giedion_syndrome				A	116599450	C	A	116599450	2	1	208	1	0	0	0	0	0	0	0	1	16590	697	25	5		5	TRPS1	8	116599450	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	74693359	116599450	29764572	56	111691											
GLIPR2	152007	broad.mit.edu	37	chr9	36162426	36162426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggcgtccgcaagtgaCgggtcctcctttgtggtggc	17	10	0	1	rs73648727	byFrequency	TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:36162426C>T	uc003zyz.2	+	5	406	c.372C>T	c.(370-372)GAC>GAT	p.D124D	GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	124				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						CCGCAAGTGACGGGTCCTCCT	0.562													T	36162426	C	T	36162426	2	4	208	1	0	0	0	0	0	0	0	1	6444	535	19	1		1	GLIPR2	9	36162426	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08		36162426	105051005	57	111692											
ZNF510	22869	broad.mit.edu	37	chr9	99521449	99521449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatgagatgatcttttcGccagaaggatttttcacatt	8	6	2	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:99521449G>A	uc004awn.1	-	6	1852	c.1663C>T	c.(1663-1665)CGA>TGA	p.R555*	ZNF510_uc004awo.1_Nonsense_Mutation_p.R555*	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TGATCTTTTCGCCAGAAGGAT	0.413													A	99521449	G	A	99521449	4	1	208	1	0	0	0	0	0	1	0	0	17951	1095	38	1	392	1	ZNF510	9	99521449	Nonsense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	63359023	99521449	41691982	58	111693											
TGFBR1	7046	broad.mit.edu	37	chr9	101891357	101891357	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcaatcaggaccattgCaataaaatagaacttccaac	6	10	1	1	rs149417020		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:101891357C>A	uc004azc.2	+	2	394	c.318C>A	c.(316-318)TGC>TGA	p.C106*	TGFBR1_uc004azd.2_Nonsense_Mutation_p.C106*|TGFBR1_uc011lvc.1_Nonsense_Mutation_p.C37*|TGFBR1_uc004aze.2_Nonsense_Mutation_p.C37*	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	106	Extracellular (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				AGGACCATTGCAATAAAATAG	0.333													A	101891357	C	A	101891357	4	1	208	1	0	0	0	0	0	1	0	0	15818	718	25	5	324	5	TGFBR1	9	101891357	Nonsense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	2369908	101891357	39322074	59	111694											
OR13F1	138805	broad.mit.edu	37	chr9	107266848	107266848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcgccactcagatgtAcctctcccttgccatgggct	11	14	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:107266848A>G	uc011lvm.1	+	1	305	c.305A>G	c.(304-306)TAC>TGC	p.Y102C		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						ACTCAGATGTACCTCTCCCTT	0.532													G	107266848	A	G	107266848	3	3	208	1	0	0	0	0	1	0	0	0	10941	391	14	3	307	3	OR13F1	9	107266848	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08	5375491	107266848	33946583	60	111695											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165439	134165439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgcaacaacgtcctcaacCgggctgagttcctgtccctg	9	16	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr9:134165439C>A	uc004cal.2	+	1	359	c.55C>A	c.(55-57)CGG>AGG	p.R19R		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	19	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTCCTCAACCGGGCTGAGTT	0.711													A	134165439	C	A	134165439	2	1	208	1	0	0	0	0	0	0	0	1	12296	643	23	5		5	PPAPDC3	9	134165439	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	26898591	134165439	7047992	61	111696											
ABI1	10006	broad.mit.edu	37	chr10	27040626	27040626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcttcataatccactgGtggtggtggtgggggaggtg	16	7	3	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:27040626G>A	uc001isx.2	-	11	1419	c.1252C>T	c.(1252-1254)CCA>TCA	p.P418S	ABI1_uc001ite.2_Missense_Mutation_p.P356S|ABI1_uc010qdh.1_Missense_Mutation_p.P298S|ABI1_uc010qdi.1_Missense_Mutation_p.P239S|ABI1_uc001isy.2_Missense_Mutation_p.P391S|ABI1_uc001ita.2_Missense_Mutation_p.P362S|ABI1_uc001isz.2_Missense_Mutation_p.P386S|ABI1_uc001itb.2_Missense_Mutation_p.P406S|ABI1_uc001itc.2_Missense_Mutation_p.P390S|ABI1_uc010qdj.1_Missense_Mutation_p.P332S|ABI1_uc001itd.2_Missense_Mutation_p.P361S|ABI1_uc010qdk.1_Missense_Mutation_p.P303S|ABI1_uc010qdg.1_Missense_Mutation_p.P228S	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	418	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						TAATCCACTGGTGGTGGTGGT	0.483													A	27040626	G	A	27040626	3	1	208	1	0	0	0	0	1	0	0	0	88	1261	44	4	282	4	ABI1	10	27040626	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		27040626	108494121	62	111697											
PCDH15	65217	broad.mit.edu	37	chr10	55569287	55569287	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taatttcaacctttggttttTtaattttctttggctcttcc	4	8	3	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:55569287T>A	uc010qhu.1	-	36	4968	c.4573A>T	c.(4573-4575)AAA>TAA	p.K1525*	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Missense_Mutation_p.K1513I|PCDH15_uc010qht.1_Missense_Mutation_p.K1506I	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-2 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTTGGTTTTTTAATTTTCTT	0.413										HNSCC(58;0.16)			A	55569287	T	A	55569287	4	1	208	1	0	0	0	0	0	1	0	0	11511	1850	64	5	1393	5	PCDH15	10	55569287	Nonsense_Mutation	SNP	T	TCGA-D7-6524-01A-11D-1800-08	28528661	55569287	79965460	63	111698											
PPP3CB	5532	broad.mit.edu	37	chr10	75206306	75206306	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctcgaattttgtttcttatGatttctttccgggctgcagc	9	9	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:75206306G>T	uc001jue.2	-	11	1347	c.1212C>A	c.(1210-1212)ATC>ATA	p.I404I	PPP3CB_uc001juf.2_Silent_p.I405I|PPP3CB_uc001jug.2_Silent_p.I405I|PPP3CB_uc001jui.2_Silent_p.I422I|PPP3CB_uc001juh.2_Silent_p.I319I|PPP3CB_uc010qkj.1_Silent_p.I32I	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	404	Calmodulin-binding (Potential).									skin(1)	1	Prostate(51;0.0119)					TGTTTCTTATGATTTCTTTCC	0.363													T	75206306	G	T	75206306	2	4	208	1	0	0	0	0	0	0	0	1	12398	1280	45	5		5	PPP3CB	10	75206306	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	19637019	75206306	60328441	64	111699											
CUEDC2	79004	broad.mit.edu	37	chr10	104184490	104184490	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agttctcctctgatgggcccGaggggcccaggtcctccagg	14	14	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:104184490G>T	uc001kvn.2	-	3	285	c.134C>A	c.(133-135)TCG>TAG	p.S45*	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding				0		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587													T	104184490	G	T	104184490	4	4	208	1	0	0	0	0	0	1	0	0	4053	1059	37	5	757	5	CUEDC2	10	104184490	Nonsense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	28978184	104184490	31350257	65	111700											
EIF3A	8661	broad.mit.edu	37	chr10	120802094	120802094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggtcatcgtctgccccacGacgagagaacctatcttcct	8	16	3	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr10:120802094G>A	uc001ldu.2	-	19	3084	c.2938C>T	c.(2938-2940)CGT>TGT	p.R980C	EIF3A_uc010qsu.1_Missense_Mutation_p.R946C|EIF3A_uc009xzg.1_Missense_Mutation_p.R19C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	980	Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|6.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTGCCCCACGACGAGAGAAC	0.582													A	120802094	G	A	120802094	3	1	208	1	0	0	0	0	1	0	0	0	5012	1058	37	1	1226	1	EIF3A	10	120802094	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	16617604	120802094	14732653	66	111701											
OR51Q1	390061	broad.mit.edu	37	chr11	5443929	5443929	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccttttcttactcaagCgactgcctttctgccactcc	4	18	3	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:5443929C>T	uc010qzd.1	+	1	499	c.499C>T	c.(499-501)CGA>TGA	p.R167*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		CTTACTCAAGCGACTGCCTTT	0.517													T	5443929	C	T	5443929	4	4	208	1	0	0	0	0	0	1	0	0	11104	760	27	1	501	1	OR51Q1	11	5443929	Nonsense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08		5443929	129562587	67	111702											
TRIM3	10612	broad.mit.edu	37	chr11	6478559	6478559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaatggtctccaggtcGctgaccagagcctgcttgcg	11	14	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:6478559G>A	uc001mdh.2	-	6	1050	c.663C>T	c.(661-663)AGC>AGT	p.S221S	TRIM3_uc001mdi.2_Silent_p.S221S|TRIM3_uc010raj.1_Silent_p.S102S|TRIM3_uc009yfd.2_Silent_p.S221S|TRIM3_uc010rak.1_Silent_p.S221S|TRIM3_uc001mdj.2_Silent_p.S102S	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	221	Potential.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		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)		TCTCCAGGTCGCTGACCAGAG	0.572													A	6478559	G	A	6478559	2	1	208	1	0	0	0	0	0	0	0	1	16501	1078	38	1		1	TRIM3	11	6478559	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	1034630	6478559	128527957	68	111703											
OR4C13	283092	broad.mit.edu	37	chr11	49974543	49974543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatcttgcctgcactaataCccacactctaggactcttca	4	15	4	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:49974543C>A	uc010rhz.1	+	1	569	c.569C>A	c.(568-570)ACC>AAC	p.T190N		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGCACTAATACCCACACTCTA	0.438													A	49974543	C	A	49974543	3	1	208	1	0	0	0	0	1	0	0	0	11047	507	18	5	571	5	OR4C13	11	49974543	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	43495984	49974543	85031973	69	111704											
MAP3K11	4296	broad.mit.edu	37	chr11	65374207	65374207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcgaatccccaggccCgacctcgaagacgtttctcc	12	15	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:65374207C>T	uc001oew.2	-	6	2051	c.1558G>A	c.(1558-1560)GGG>AGG	p.G520R	MAP3K11_uc001oev.2_5'UTR|MAP3K11_uc010rol.1_Missense_Mutation_p.G263R|MAP3K11_uc001oex.1_Missense_Mutation_p.G27R	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	520					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)|lung(1)|central_nervous_system(1)|skin(1)	6						TCCCCAGGCCCGACCTCGAAG	0.612													T	65374207	C	T	65374207	3	4	208	1	0	0	0	0	1	0	0	0	9245	652	23	1	1005	1	MAP3K11	11	65374207	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	15399664	65374207	69632309	70	111705											
CABP2	51475	broad.mit.edu	37	chr11	67287547	67287547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggcgtcccgtagctccCggacaccgatcatgtctgcc	12	15	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:67287547C>T	uc001omc.1	-	5	566	c.464G>A	c.(463-465)CGG>CAG	p.R155Q	CABP2_uc001omd.1_Missense_Mutation_p.R98Q|CABP2_uc001ome.1_Missense_Mutation_p.R161Q	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	155	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						CCGTAGCTCCCGGACACCGAT	0.667													T	67287547	C	T	67287547	3	4	208	1	0	0	0	0	1	0	0	0	2532	652	23	1	210	1	CABP2	11	67287547	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	1913340	67287547	67718969	71	111706											
CPT1A	1374	broad.mit.edu	37	chr11	68560791	68560791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgactcacctgtctccTctcctgggatccgggaagta	10	13	3	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:68560791T>C	uc001oog.3	-	9	1129	c.959A>G	c.(958-960)GAG>GGG	p.E320G	CPT1A_uc001oof.3_Missense_Mutation_p.E320G|CPT1A_uc009ysj.2_Missense_Mutation_p.E320G	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	320	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACCTGTCTCCTCTCCTGGGAT	0.478													C	68560791	T	C	68560791	3	2	208	1	0	0	0	0	1	0	0	0	3831	1551	54	3	1446	3	CPT1A	11	68560791	Missense_Mutation	SNP	T	TCGA-D7-6524-01A-11D-1800-08	1273244	68560791	66445725	72	111707											
FOLH1B	219595	broad.mit.edu	37	chr11	89424640	89424640	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttttctgcagtaaaaaaTtttacagaaattgcttccaa	4	7	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:89424640T>A	uc001pda.2	+	12	1516	c.990T>A	c.(988-990)AAT>AAA	p.N330K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	330					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						CAGTAAAAAATTTTACAGAAA	0.269													A	89424640	T	A	89424640	3	1	208	1	0	0	0	0	1	0	0	0	5980	1490	52	5	1028	5	FOLH1B	11	89424640	Missense_Mutation	SNP	T	TCGA-D7-6524-01A-11D-1800-08	20863849	89424640	45581876	73	111708											
HEPHL1	341208	broad.mit.edu	37	chr11	93796676	93796676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattttattttttggaaggaGccctatacccagatggaaca	8	7	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:93796676G>T	uc001pep.2	+	3	575	c.418G>T	c.(418-420)GCC>TCC	p.A140S		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	140	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				tttGGAAGGAGCCCTATACCC	0.279													T	93796676	G	T	93796676	3	4	208	1	0	0	0	0	1	0	0	0	7055	971	34	5	428	5	HEPHL1	11	93796676	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	4372036	93796676	41209840	74	111709											
PDGFD	80310	broad.mit.edu	37	chr11	103797732	103797732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcctccacagcgctgcaCgaggaggcaacgtggaaaga	12	11	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:103797732C>A	uc001phq.2	-	6	1267	c.895G>T	c.(895-897)GTG>TTG	p.V299L	PDGFD_uc001php.2_Missense_Mutation_p.V293L	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	299					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		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)		CAGCGCTGCACGAGGAGGCAA	0.483													A	103797732	C	A	103797732	3	1	208	1	0	0	0	0	1	0	0	0	11660	536	19	5	225	5	PDGFD	11	103797732	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	10001056	103797732	31208784	75	111710											
TECTA	7007	broad.mit.edu	37	chr11	121028582	121028582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggaacagcgactgcacGcggcgctgccgctgtttccg	13	13	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:121028582G>A	uc010rzo.1	+	13	4338	c.4338G>A	c.(4336-4338)ACG>ACA	p.T1446T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1446					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		GCGACTGCACGCGGCGCTGCC	0.617													A	121028582	G	A	121028582	2	1	208	1	0	0	0	0	0	0	0	1	15744	1074	38	1		1	TECTA	11	121028582	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	17230850	121028582	13977934	76	111711											
NCAPD3	23310	broad.mit.edu	37	chr11	134062600	134062600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacctcagttcctggctttCggtggtgaggagagtaagaa	13	8	1	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr11:134062600C>T	uc001qhd.1	-	16	2635	c.2029G>A	c.(2029-2031)GAA>AAA	p.E677K	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	677					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		TCCTGGCTTTCGGTGGTGAGG	0.507													T	134062600	C	T	134062600	3	4	208	1	0	0	0	0	1	0	0	0	10206	893	31	1	2547	1	NCAPD3	11	134062600	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	13034018	134062600	943916	77	111712											
FAM90A1	55138	broad.mit.edu	37	chr12	8376676	8376676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggttcgcttcaacctgggGcttccatggtttcaggtttt	12	9	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:8376676G>A	uc001qui.2	-	5	818	c.259C>T	c.(259-261)CCC>TCC	p.P87S	FAM90A1_uc001quh.2_Missense_Mutation_p.P87S	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	87							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TCAACCTGGGGCTTCCATGGT	0.547													A	8376676	G	A	8376676	3	1	208	1	0	0	0	0	1	0	0	0	5650	1203	42	2	1147	2	FAM90A1	12	8376676	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		8376676	125475219	78	111713											
ADAMTS20	80070	broad.mit.edu	37	chr12	43750286	43750286	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggtcccgcaggacttaCctctgatcttcgtatgctga	9	11	2	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:43750286C>T	uc010skx.1	-	38	5643	c.5643_splice	c.e38+1	p.E1881_splice		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with							proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)		GCAGGACTTACCTCTGATCTT	0.403													T	43750286	C	T	43750286	5	4	208	1	0	0	0	0	0	0	1	0	266	521	18	4	95	4	ADAMTS20	12	43750286	Splice_Site	SNP	C	TCGA-D7-6524-01A-11D-1800-08	35373610	43750286	90101609	79	111714											
MBD6	114785	broad.mit.edu	37	chr12	57920417	57920417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgcttcaaagcccatccGaaggactggggatgggggca	15	10	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:57920417G>A	uc001soj.1	+	7	1713	c.1489G>A	c.(1489-1491)GAA>AAA	p.E497K	MBD6_uc001sok.1_Missense_Mutation_p.E364K|MBD6_uc001sol.1_RNA	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	497	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						AAGCCCATCCGAAGGACTGGG	0.647													A	57920417	G	A	57920417	3	1	208	1	0	0	0	0	1	0	0	0	9348	1059	37	1	1507	1	MBD6	12	57920417	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	14170131	57920417	75931478	80	111715											
POLR3B	55703	broad.mit.edu	37	chr12	106897897	106897897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgtgatggtggcttgcGtctcggggaaatggaacgtg	17	7	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:106897897G>A	uc001tlp.2	+	27	3359	c.3137G>A	c.(3136-3138)CGT>CAT	p.R1046H	POLR3B_uc001tlq.2_Missense_Mutation_p.R988H	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1046					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			ovary(1)|central_nervous_system(1)	2						GGTGGCTTGCGTCTCGGGGAA	0.388													A	106897897	G	A	106897897	3	1	208	1	0	0	0	0	1	0	0	0	12229	1145	40	1	3243	1	POLR3B	12	106897897	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	48977480	106897897	26953998	81	111716											
FOXN4	121643	broad.mit.edu	37	chr12	109723285	109723285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagagacaggttgtgcCgcaccgagttcttccacccg	11	13	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:109723285C>T	uc001toe.3	-	8	830	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	FOXN4_uc009zvg.2_Missense_Mutation_p.R39Q|FOXN4_uc001tof.3_Missense_Mutation_p.R62Q	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	242	Fork-head.				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			ovary(1)|lung(1)	2						CAGGTTGTGCCGCACCGAGTT	0.612													T	109723285	C	T	109723285	3	4	208	1	0	0	0	0	1	0	0	0	6022	652	23	1	840	1	FOXN4	12	109723285	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	2825388	109723285	24128610	82	111717											
MYO1H	283446	broad.mit.edu	37	chr12	109872885	109872885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagaactctgtttgctaccGaagatgcctttgaatttagt	8	9	1	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:109872885G>A	uc010sxn.1	+	20	2059	c.2059G>A	c.(2059-2061)GAA>AAA	p.E687K		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						GTTTGCTACCGAAGATGCCTT	0.333													A	109872885	G	A	109872885	3	1	208	1	0	0	0	0	1	0	0	0	10075	1059	37	1	2137	1	MYO1H	12	109872885	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	149600	109872885	23979010	83	111718											
GOLGA3	2802	broad.mit.edu	37	chr12	133358998	133358998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccgtaagcttccctttctCgtgctctaattcaagagcca	7	14	3	1	rs151069773		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr12:133358998C>T	uc001ukz.1	-	17	3908	c.3349G>A	c.(3349-3351)GAG>AAG	p.E1117K	GOLGA3_uc001ula.1_Missense_Mutation_p.E1117K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1117	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		TTCCCTTTCTCGTGCTCTAAT	0.488													T	133358998	C	T	133358998	3	4	208	1	0	0	0	0	1	0	0	0	6554	893	31	1	1179	1	GOLGA3	12	133358998	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	23486113	133358998	492897	84	111719											
TRPC4	7223	broad.mit.edu	37	chr13	38266344	38266344	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaggtagcacacagagaaGacaggaaaaagaagtcctat	10	7	1	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:38266344G>T	uc001uws.2	-	4	1261	c.1026C>A	c.(1024-1026)GTC>GTA	p.V342V	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Silent_p.V342V|TRPC4_uc010tey.1_Silent_p.V342V|TRPC4_uc010abw.2_Silent_p.V169V|TRPC4_uc010abx.2_Silent_p.V342V|TRPC4_uc010aby.2_Silent_p.V342V	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	342	Helical; (Potential).				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			ovary(3)|skin(2)|breast(1)	6				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)		ACACAGAGAAGACAGGAAAAA	0.468													T	38266344	G	T	38266344	2	4	208	1	0	0	0	0	0	0	0	1	16577	929	33	5		5	TRPC4	13	38266344	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08		38266344	76903534	85	111720											
SUGT1	10910	broad.mit.edu	37	chr13	53254280	53254280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgaaacgtgccatgaAcaaatcctttgtaagaatat	8	6	0	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:53254280A>G	uc001vhc.2	+	13	1211	c.986A>G	c.(985-987)AAC>AGC	p.N329S	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.N297S|SUGT1_uc010thb.1_Missense_Mutation_p.N241S|SUGT1_uc001vhd.2_Missense_Mutation_p.N186S	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	329	SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CGTGCCATGAACAAATCCTTT	0.323													G	53254280	A	G	53254280	3	3	208	1	0	0	0	0	1	0	0	0	15368	43	2	3	1036	3	SUGT1	13	53254280	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08	14987936	53254280	61915598	86	111721											
SLITRK1	114798	broad.mit.edu	37	chr13	84454165	84454165	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagtttagagagcgagaccCcagcgaacacgtccacaggc	12	12	0	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:84454165C>G	uc001vlk.2	-	1	2364	c.1478G>C	c.(1477-1479)GGG>GCG	p.G493A		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	493	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGCGAGACCCCAGCGAACAC	0.547													G	84454165	C	G	84454165	3	3	208	1	0	0	0	0	1	0	0	0	14742	623	22	5	616	5	SLITRK1	13	84454165	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	31199885	84454165	30715713	87	111722											
SLITRK6	84189	broad.mit.edu	37	chr13	86370028	86370028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaatattcggccaatgtGttcgagaaaaccaacataag	7	9	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:86370028G>A	uc001vll.1	-	2	1075	c.616C>T	c.(616-618)CAC>TAC	p.H206Y	SLITRK6_uc010afe.1_5'UTR	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	206	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGGCCAATGTGTTCGAGAAAA	0.408													A	86370028	G	A	86370028	3	1	208	1	0	0	0	0	1	0	0	0	14747	1377	48	4	1913	4	SLITRK6	13	86370028	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	1915863	86370028	28799850	88	111723											
ZIC5	85416	broad.mit.edu	37	chr13	100622658	100622658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcttggcgccgccggcCgggggcggtggcggcggcgg	24	13	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr13:100622658C>T	uc001vom.1	-	1	1521	c.1272G>A	c.(1270-1272)CCG>CCA	p.P424P		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	424	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCCGCCGGCcgggggcggtg	0.493													T	100622658	C	T	100622658	2	4	208	1	0	0	0	0	0	0	0	1	17679	639	23	1		1	ZIC5	13	100622658	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	14252630	100622658	14547220	89	111724											
NIN	51199	broad.mit.edu	37	chr14	51226755	51226755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaggccttccctctccCgctcaaagcttgcttgagcc	8	16	3	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:51226755C>T	uc001wym.2	-	17	2410	c.2219G>A	c.(2218-2220)CGG>CAG	p.R740Q	NIN_uc001wyi.2_Missense_Mutation_p.R740Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R740Q|NIN_uc010tqp.1_Missense_Mutation_p.R746Q|NIN_uc001wyo.2_Missense_Mutation_p.R740Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	740	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCCCTCTCCCGCTCAAAGCT	0.542			T	PDGFRB	MPD								T	51226755	C	T	51226755	3	4	208	1	0	0	0	0	1	0	0	0	10417	652	23	1	4390	1	NIN	14	51226755	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08		51226755	56122785	90	111725											
NID2	22795	broad.mit.edu	37	chr14	52478332	52478332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcacggctgattgtccGtccagcaacatctgtccagt	9	14	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:52478332G>A	uc001wzo.2	-	17	3724	c.3490C>T	c.(3490-3492)CGG>TGG	p.R1164W	NID2_uc010tqs.1_Missense_Mutation_p.R1116W|NID2_uc010tqt.1_Missense_Mutation_p.R1164W	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1164	LDL-receptor class B 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGATTGTCCGTCCAGCAACA	0.488													A	52478332	G	A	52478332	3	1	208	1	0	0	0	0	1	0	0	0	10415	1144	40	1	661	1	NID2	14	52478332	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	1251577	52478332	54871208	91	111726											
SYT16	83851	broad.mit.edu	37	chr14	62567184	62567184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaagacgtccattcggcGtggtcagcccaatcctgtct	10	13	2	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:62567184G>A	uc001xfu.1	+	6	1894	c.1697G>A	c.(1696-1698)CGT>CAT	p.R566H	SYT16_uc010tse.1_Missense_Mutation_p.R124H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	566	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCCATTCGGCGTGGTCAGCCC	0.463													A	62567184	G	A	62567184	3	1	208	1	0	0	0	0	1	0	0	0	15469	1145	40	1	1719	1	SYT16	14	62567184	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	10088852	62567184	44782356	92	111727											
ESR2	2100	broad.mit.edu	37	chr14	64723960	64723960	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacctgtccagaacaagatCtggagcaaagatgagcttgc	10	10	2	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:64723960C>A	uc001xha.1	-	6	1543	c.1075G>T	c.(1075-1077)GAT>TAT	p.D359Y	ESR2_uc001xgu.2_Missense_Mutation_p.D359Y|ESR2_uc001xgv.2_Missense_Mutation_p.D359Y|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.D359Y|ESR2_uc001xgy.1_Missense_Mutation_p.D359Y|ESR2_uc001xgz.1_Missense_Mutation_p.D359Y|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	359	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGAACAAGATCTGGAGCAAAG	0.493													A	64723960	C	A	64723960	3	1	208	1	0	0	0	0	1	0	0	0	5257	913	32	5	619	5	ESR2	14	64723960	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	2156776	64723960	42625580	93	111728											
LTBP2	4053	broad.mit.edu	37	chr14	74976494	74976494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcacaggcagagcaggCgaaggagccctccgtgttga	14	11	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr14:74976494C>T	uc001xqa.2	-	21	3607	c.3220G>A	c.(3220-3222)GCC>ACC	p.A1074T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1074	EGF-like 9; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGAGCAGGCGAAGGAGCCC	0.587													T	74976494	C	T	74976494	3	4	208	1	0	0	0	0	1	0	0	0	9074	768	27	1	2309	1	LTBP2	14	74976494	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	10252534	74976494	32373046	94	111729											
SPTBN5	51332	broad.mit.edu	37	chr15	42164501	42164501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttatggtgtcctcaccGtgtggccgccaactcctgca	13	13	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr15:42164501G>A	uc001zos.2	-	27	5392	c.5059C>T	c.(5059-5061)CGG>TGG	p.R1687W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1722	Spectrin 13.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		TGTCCTCACCGTGTGGCCGCC	0.627													A	42164501	G	A	42164501	3	1	208	1	0	0	0	0	1	0	0	0	15121	1159	40	1	6028	1	SPTBN5	15	42164501	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		42164501	60366891	95	111730											
NARFL	64428	broad.mit.edu	37	chr16	780495	780495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagcgacctgcacactcCgagtccgtgccctgcagcca	10	17	0	0	rs142623781		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:780495C>T	uc002cjr.2	-	11	1365	c.1353G>A	c.(1351-1353)TCG>TCA	p.S451S	NARFL_uc002cjp.2_Silent_p.S349S|NARFL_uc002cjq.2_Silent_p.S349S|NARFL_uc002cjs.2_Silent_p.S233S	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	451					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				CTGCACACTCCGAGTCCGTGC	0.667													T	780495	C	T	780495	2	4	208	1	0	0	0	0	0	0	0	1	10168	639	23	1		1	NARFL	16	780495	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08		780495	89574258	96	111731											
NTHL1	4913	broad.mit.edu	37	chr16	2096147	2096147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctttgggggggcactggaGtcatagcagtgctcagtccc	14	11	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:2096147G>C	uc002col.1	-	2	379	c.360C>G	c.(358-360)GAC>GAG	p.D120E	NTHL1_uc002com.1_Missense_Mutation_p.D120E	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	120					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						GGGCACTGGAGTCATAGCAGT	0.582								BER_DNA_glycosylases					C	2096147	G	C	2096147	3	2	208	1	0	0	0	0	1	0	0	0	10698	1020	36	5	598	5	NTHL1	16	2096147	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	1315652	2096147	88258606	97	111732											
ORAI3	93129	broad.mit.edu	37	chr16	30964856	30964856	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtgcccacatcccgggtGcccgggactctggcaccagt	13	15	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:30964856G>T	uc002eac.2	+	2	785	c.579G>T	c.(577-579)GTG>GTT	p.V193V		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator	193						integral to membrane	protein binding				0						CATCCCGGGTGCCCGGGACTC	0.617											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30964856	G	T	30964856	2	4	208	1	0	0	0	0	0	0	0	1	11259	1306	46	5		5	ORAI3	16	30964856	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	28868709	30964856	59389897	98	111733											
GPT2	84706	broad.mit.edu	37	chr16	46943744	46943744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgaggagaactgctgggCgctgaatgtgaatgagctcc	16	8	0	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:46943744C>T	uc002eel.2	+	6	819	c.725C>T	c.(724-726)GCG>GTG	p.A242V	GPT2_uc002eem.2_Missense_Mutation_p.A142V	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	242					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AACTGCTGGGCGCTGAATGTG	0.557													T	46943744	C	T	46943744	3	4	208	1	0	0	0	0	1	0	0	0	6738	768	27	1	743	1	GPT2	16	46943744	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	15978888	46943744	43411009	99	111734											
CYLD	1540	broad.mit.edu	37	chr16	50830292	50830292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagaagtaggagagtActtgaagatgtctctggaag	13	6	1	4			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:50830292A>G	uc002egp.1	+	19	3159	c.2744A>G	c.(2743-2745)TAC>TGC	p.Y915C	CYLD_uc002egq.1_Missense_Mutation_p.Y912C|CYLD_uc002egr.1_Missense_Mutation_p.Y912C	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	915					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			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GTAGGAGAGTACTTGAAGATG	0.478			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				G	50830292	A	G	50830292	3	3	208	1	0	0	0	0	1	0	0	0	4143	391	14	3	2810	3	CYLD	16	50830292	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08	3886548	50830292	39524461	100	111735											
PLA2G15	23659	broad.mit.edu	37	chr16	68293500	68293500	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccaggcagcgagcacatCgagatgctggccaacgccac	12	15	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:68293500C>T	uc002evr.2	+	6	1262	c.1179C>T	c.(1177-1179)ATC>ATT	p.I393I	PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Silent_p.I299I|PLA2G15_uc010vlf.1_Silent_p.I193I|PLA2G15_uc002evs.2_Silent_p.I214I	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	393					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GCGAGCACATCGAGATGCTGG	0.627													T	68293500	C	T	68293500	2	4	208	1	0	0	0	0	0	0	0	1	11992	874	31	1		1	PLA2G15	16	68293500	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	17463208	68293500	22061253	101	111736											
CDH1	999	broad.mit.edu	37	chr16	68863697	68863701	+	Frame_Shift_Del	DEL	TGAAG	TGAAG	-													gaaattggaaattttattgaTgaagtaagtaatccacgtgg							TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:68863696_68863700ATGAAG>A	uc002ewg.1	+	14	2559_2563	c.2435_2439ATGAAG>A	c.(2434-2439)gatgaafs	p.D812fs	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Frame_Shift_Del_p.D751fs	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	812	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	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|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)		AATTTTATTGATGAAGTAAGTAATC	0.459			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				-	68863701	TGAAG	-	68863697	7	5	208	1	0	1	0	1	0	0	0	0	3095	1461	51	0	2494	0	CDH1	16	68863697	Frame_Shift_Del	DEL	TGAAG	TCGA-D7-6524-01A-11D-1800-08	570197	68863697	21491056	102	111737											
TERF2	7014	broad.mit.edu	37	chr16	69418513	69418514	+	Missense_Mutation	DNP	GA	GA	AT													accagttttctactggattcGaccactgcttctgtcagtgt							TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:69418513_69418514GA>AT	uc002exd.2	-	3	574_575	c.449_450TC>AT	c.(448-450)GTC>GAT	p.V150D	TERF2_uc002exe.2_Missense_Mutation_p.V150D	NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	150	TRFH dimerization.				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			lung(1)	1		Ovarian(137;0.101)				TACTGGATTCGACCACTGCTTC	0.406													AT	69418514	GA	AT	69418513	3	1	208	1	0	0	0	0	1	0	0	0	15759	1045	37	1	1084	1	TERF2	16	69418513	Missense_Mutation	DNP	GA	TCGA-D7-6524-01A-11D-1800-08	554816	69418513	20936240	103	111738											
KCNG4	93107	broad.mit.edu	37	chr16	84270705	84270705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaagcaccagcttcccGgccgccaggaagctcacgat	11	15	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr16:84270705G>A	uc010voc.1	-	2	508	c.387C>T	c.(385-387)GCC>GCT	p.A129A	KCNG4_uc002fhu.1_Silent_p.A129A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	129	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CCAGCTTCCCGGCCGCCAGGA	0.637													A	84270705	G	A	84270705	2	1	208	1	0	0	0	0	0	0	0	1	8030	1103	39	1		1	KCNG4	16	84270705	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	14852192	84270705	6084048	104	111739											
ASGR1	432	broad.mit.edu	37	chr17	7077074	7077074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgttccagcggccgtcGtcggtgaagtgggcacagtc	15	12	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:7077074G>A	uc002ges.3	-	9	1190	c.780C>T	c.(778-780)GAC>GAT	p.D260D	ASGR1_uc010clx.1_3'UTR	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	260	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						AGCGGCCGTCGTCGGTGAAGT	0.657													A	7077074	G	A	7077074	2	1	208	1	0	0	0	0	0	0	0	1	1039	1136	40	1		1	ASGR1	17	7077074	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08		7077074	74118136	105	111740											
POLR2A	5430	broad.mit.edu	37	chr17	7404941	7404941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccgcattcttaacgatGcccgagacaagactggctcc	9	13	1	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:7404941G>A	uc002ghf.3	+	14	2476	c.2242G>A	c.(2242-2244)GCC>ACC	p.A748T		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	748					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			pancreas(1)	1		Prostate(122;0.173)				TCTTAACGATGCCCGAGACAA	0.502													A	7404941	G	A	7404941	3	1	208	1	0	0	0	0	1	0	0	0	12214	1319	46	2	2296	2	POLR2A	17	7404941	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	327867	7404941	73790269	106	111741											
CCDC42	146849	broad.mit.edu	37	chr17	8647479	8647479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggatggggactccgacGccccctcaacattggggagt	14	11	1	1	rs143164438		TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:8647479G>A	uc002gln.2	-	2	334	c.107C>T	c.(106-108)GCG>GTG	p.A36V	CCDC42_uc002glo.2_Missense_Mutation_p.A36V	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	36										ovary(1)	1						GGACTCCGACGCCCCCTCAAC	0.547													A	8647479	G	A	8647479	3	1	208	1	0	0	0	0	1	0	0	0	2814	1087	38	1	867	1	CCDC42	17	8647479	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	1242538	8647479	72547731	107	111742											
PIPOX	51268	broad.mit.edu	37	chr17	27380077	27380077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcccaaatattcggttgCccaggggagaagtggggctc	14	9	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr17:27380077C>T	uc002hdr.1	+	3	729	c.403C>T	c.(403-405)CCC>TCC	p.P135S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	135					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TATTCGGTTGCCCAGGGGAGA	0.498													T	27380077	C	T	27380077	3	4	208	1	0	0	0	0	1	0	0	0	11943	739	26	2	413	2	PIPOX	17	27380077	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	18732598	27380077	53815133	108	111743											
CDH2	1000	broad.mit.edu	37	chr18	25572744	25572744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtatggggttgatccttatCggtcacagttagattagcta	11	6	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr18:25572744C>T	uc002kwg.2	-	9	1678	c.1219G>A	c.(1219-1221)GAT>AAT	p.D407N	CDH2_uc010xbn.1_Missense_Mutation_p.D376N	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	407	Extracellular (Potential).|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			ovary(3)|lung(1)	4						TGATCCTTATCGGTCACAGTT	0.502													T	25572744	C	T	25572744	3	4	208	1	0	0	0	0	1	0	0	0	3105	884	31	1	1533	1	CDH2	18	25572744	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08		25572744	52504504	109	111744											
ZNF700	90592	broad.mit.edu	37	chr19	12059220	12059220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagtaaaatcatgtgaCagctttgtgtgtgcagaagt	11	6	1	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:12059220C>T	uc002msu.2	+	4	507	c.381C>T	c.(379-381)GAC>GAT	p.D127D	ZNF700_uc010xme.1_Silent_p.D145D|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATCATGTGACAGCTTTGTGT	0.413													T	12059220	C	T	12059220	2	4	208	1	0	0	0	0	0	0	0	1	18101	477	17	4		4	ZNF700	19	12059220	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08		12059220	47069763	110	111745											
CILP2	148113	broad.mit.edu	37	chr19	19655192	19655192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgacgttcgtggacccccGagacctcacctcggcggcgt	14	15	1	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:19655192G>A	uc002nmv.3	+	8	1923	c.1838G>A	c.(1837-1839)CGA>CAA	p.R613Q	CILP2_uc002nmw.3_Missense_Mutation_p.R619Q	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	613						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GTGGACCCCCGAGACCTCACC	0.697													A	19655192	G	A	19655192	3	1	208	1	0	0	0	0	1	0	0	0	3430	1058	37	1	1868	1	CILP2	19	19655192	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	7595972	19655192	39473791	111	111746											
FCGBP	8857	broad.mit.edu	37	chr19	40368334	40368334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtgcccgccagtcttcgatGacaaccccagcggcctggca	11	16	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:40368334G>A	uc002omp.3	-	28	13022	c.13014C>T	c.(13012-13014)GTC>GTT	p.V4338V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4338						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			AGTCTTCGATGACAACCCCAG	0.647													A	40368334	G	A	40368334	2	1	208	1	0	0	0	0	0	0	0	1	5778	1277	45	4		4	FCGBP	19	40368334	Silent	SNP	G	TCGA-D7-6524-01A-11D-1800-08	20713142	40368334	18760649	112	111747											
ZNF581	51545	broad.mit.edu	37	chr19	56156207	56156207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagtgctacagctgcccCgtgtgctcaagggtcttcga	11	11	2	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr19:56156207C>T	uc002qln.2	+	2	986	c.270C>T	c.(268-270)CCC>CCT	p.P90P	ZNF581_uc002qlq.2_Silent_p.P90P|CCDC106_uc002qlr.2_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	zinc finger protein 581	90	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ACAGCTGCCCCGTGTGCTCAA	0.587													T	56156207	C	T	56156207	2	4	208	1	0	0	0	0	0	0	0	1	18010	639	23	1		1	ZNF581	19	56156207	Silent	SNP	C	TCGA-D7-6524-01A-11D-1800-08	15787873	56156207	2972776	113	111748											
PTPRA	5786	broad.mit.edu	37	chr20	2945695	2945695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagactctgacaatgggAccacaagaacagcaagcacc	8	13	2	3			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr20:2945695A>G	uc010zqb.1	+	5	655	c.262A>G	c.(262-264)ACC>GCC	p.T88A	PTPRA_uc002whj.2_Missense_Mutation_p.T88A|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Missense_Mutation_p.T88A|PTPRA_uc010zqd.1_Missense_Mutation_p.T99A|PTPRA_uc002whl.2_Missense_Mutation_p.T88A|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.T88A			P18433	PTPRA_HUMAN	SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);	88	Extracellular (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						TGACAATGGGACCACAAGAAC	0.443													G	2945695	A	G	2945695	3	3	208	1	0	0	0	0	1	0	0	0	12795	275	10	3	268	3	PTPRA	20	2945695	Missense_Mutation	SNP	A	TCGA-D7-6524-01A-11D-1800-08		2945695	60079825	114	111749											
BCAS1	8537	broad.mit.edu	37	chr20	52583468	52583468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtctgagaaacgccatcaGagaggttcttggtttgcttt	11	7	3	2			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr20:52583468G>T	uc002xws.2	-	9	1665	c.1327C>A	c.(1327-1329)CTG>ATG	p.L443M	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.L391M|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.L429M|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	443						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	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)			AACGCCATCAGAGAGGTTCTT	0.423													T	52583468	G	T	52583468	3	4	208	1	0	0	0	0	1	0	0	0	1350	933	33	5	443	5	BCAS1	20	52583468	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08	49637773	52583468	10442052	115	111750											
BRWD1	54014	broad.mit.edu	37	chr21	40608631	40608631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaatcgagtaattcgtcGacgacatgatgttcttaaag	8	7	1	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr21:40608631G>A	uc002yxk.1	-	23	2795	c.2656C>T	c.(2656-2658)CGA>TGA	p.R886*	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Nonsense_Mutation_p.R886*|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Nonsense_Mutation_p.R339*|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Nonsense_Mutation_p.R562*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GTAATTCGTCGACGACATGAT	0.393													A	40608631	G	A	40608631	4	1	208	1	0	0	0	0	0	1	0	0	1525	1066	37	1	4625	1	BRWD1	21	40608631	Nonsense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		40608631	7521264	116	111751											
SGSM3	27352	broad.mit.edu	37	chr22	40803534	40803534	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggactttgagcggcacgacGacgacgagctgggcttccgc	15	12	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chr22:40803534G>C	uc003ayu.1	+	13	1695	c.1486G>C	c.(1486-1488)GAC>CAC	p.D496H	SGSM3_uc011aos.1_Missense_Mutation_p.D429H|SGSM3_uc011aot.1_Missense_Mutation_p.D433H|SGSM3_uc010gyd.1_Missense_Mutation_p.D567H	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	496	SH3.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						GCGGCACGACGACGACGAGCT	0.657													C	40803534	G	C	40803534	3	2	208	1	0	0	0	0	1	0	0	0	14224	1058	37	5	1532	5	SGSM3	22	40803534	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		40803534	10501032	117	111752											
ARSE	415	broad.mit.edu	37	chrX	2867487	2867487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaaataggagcttgcgaGgaggaggacggccgaaaggg	17	7	0	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chrX:2867487G>A	uc004crc.3	-	6	962	c.712C>T	c.(712-714)CTC>TTC	p.L238F	ARSE_uc011mhi.1_Missense_Mutation_p.L184F|ARSE_uc011mhh.1_Missense_Mutation_p.L263F	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	238					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		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)				GAGCTTGCGAGGAGGAGGACG	0.562													A	2867487	G	A	2867487	3	1	208	1	0	0	0	0	1	0	0	0	990	1000	35	4	1081	4	ARSE	23	2867487	Missense_Mutation	SNP	G	TCGA-D7-6524-01A-11D-1800-08		2867487	152403073	118	111753											
TAF7L	54457	broad.mit.edu	37	chrX	100533036	100533036	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatttgtataaaggataCgggtacttacggcttcagca	9	6	1	0			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chrX:100533036C>T	uc004ehb.2	-	8	847	c.835_splice	c.e8+1	p.R279_splice	TAF7L_uc004eha.2_Splice_Site_p.R193_splice|TAF7L_uc004ehc.1_Splice_Site_p.R193_splice	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						ATAAAGGATACGGGTACTTAC	0.458													T	100533036	C	T	100533036	5	4	208	1	0	0	0	0	0	0	1	0	15530	550	19	1	576	1	TAF7L	23	100533036	Splice_Site	SNP	C	TCGA-D7-6524-01A-11D-1800-08	97665549	100533036	54737524	119	111754											
FMR1NB	158521	broad.mit.edu	37	chrX	147084750	147084750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttgtgcttgcaaatggaCatatcctgcccaacagtgaa	8	9	0	1			TCGA-D7-6524-01A-11D-1800-08	TCGA-D7-6524-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d8e93df-a61a-4c2a-bfeb-6668069ea98d	fcb9d0d3-39ce-44a2-bc51-b82dff634aa0	g.chrX:147084750C>A	uc004fcm.2	+	2	381	c.307C>A	c.(307-309)CAT>AAT	p.H103N		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	103	Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAATGGACATATCCTGCC	0.363													A	147084750	C	A	147084750	3	1	208	1	0	0	0	0	1	0	0	0	5961	478	17	5	313	5	FMR1NB	23	147084750	Missense_Mutation	SNP	C	TCGA-D7-6524-01A-11D-1800-08	46551714	147084750	8185810	120	111755											
PLEKHN1	84069	broad.mit.edu	37	chr1	909420	909420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggccgcagcccccagacGcccctcagcttgtgagtagc	14	16	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:909420G>A	uc001ace.2	+	13	1833	c.1798G>A	c.(1798-1800)GCC>ACC	p.A600T	PLEKHN1_uc001acd.2_Missense_Mutation_p.A548T|PLEKHN1_uc001acf.2_Missense_Mutation_p.A513T	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	600											0	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)		GCCCCCAGACGCCCCTCAGCT	0.711													A	909420	G	A	909420	3	1	209	1	0	0	0	0	1	0	0	0	12083	1087	38	1	1732	1	PLEKHN1	1	909420	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		909420	248341201	1	111756											
PHACTR4	65979	broad.mit.edu	37	chr1	28807116	28807116	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gattggaaacacactgatccGgtaggcctttgcttagattt	10	8	0	2	rs147207733	by1000genomes	TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:28807116G>C	uc001bpw.2	+	9	2042	c.1760G>C	c.(1759-1761)CGG>CCG	p.R587P	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R571P|PHACTR4_uc001bpy.2_Missense_Mutation_p.R597P	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	587	RPEL 2.						actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGATCCGGTAGGCCTTT	0.373													C	28807116	G	C	28807116	3	2	209	1	0	0	0	0	1	0	0	0	11812	1130	39	5	1840	5	PHACTR4	1	28807116	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	27897696	28807116	220443505	2	111757											
PTCH2	8643	broad.mit.edu	37	chr1	45293539	45293539	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgactggagcagcaaCggggcaaactgatagcgggc	16	9	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:45293539C>A	uc010olf.1	-	14	2046	c.2034G>T	c.(2032-2034)CCG>CCT	p.P678P	PTCH2_uc010olg.1_Silent_p.P376P	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	678	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGAGCAGCAACGGGGCAAACT	0.592									Basal_Cell_Nevus_syndrome				A	45293539	C	A	45293539	2	1	209	1	0	0	0	0	0	0	0	1	12731	523	19	5		5	PTCH2	1	45293539	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	16486423	45293539	203957082	3	111758											
BEND5	79656	broad.mit.edu	37	chr1	49201942	49201942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagtttgtgaggcgagagGggtggtttagggactgcatc	17	5	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:49201942G>A	uc001crx.3	-	5	1121	c.1077C>T	c.(1075-1077)CCC>CCT	p.P359P	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.P190P	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	359	BEN.									skin(1)	1						GAGGCGAGAGGGGTGGTTTAG	0.458													A	49201942	G	A	49201942	2	1	209	1	0	0	0	0	0	0	0	1	1401	1219	43	4		4	BEND5	1	49201942	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	3908403	49201942	200048679	4	111759											
C1orf173	127254	broad.mit.edu	37	chr1	75037172	75037172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccccactccgtgctaAttcctctaccaccaccttcc	2	21	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:75037172A>C	uc001dgg.2	-	14	4441	c.4222T>G	c.(4222-4224)TTA>GTA	p.L1408V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1408	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CTCCGTGCTAATTCCTCTACC	0.547													C	75037172	A	C	75037172	3	2	209	1	0	0	0	0	1	0	0	0	2014	98	4	5	374	5	C1orf173	1	75037172	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	25835230	75037172	174213449	5	111760											
IFI44L	10964	broad.mit.edu	37	chr1	79093642	79093642	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatggaatgatgaaaatcaTctgcgcaagctgcttggaaa	10	7	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:79093642T>A	uc010oro.1	+	2	221	c.42T>A	c.(40-42)CAT>CAA	p.H14Q	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	14						cytoplasm					0						ATGAAAATCATCTGCGCAAGC	0.363													A	79093642	T	A	79093642	3	1	209	1	0	0	0	0	1	0	0	0	7518	1432	50	5	44	5	IFI44L	1	79093642	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	4056470	79093642	170156979	6	111761											
ZNF644	84146	broad.mit.edu	37	chr1	91403345	91403345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtctttaggccattacGgtatgcttcaagaggtataa	9	7	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:91403345G>A	uc001dnw.2	-	4	3527	c.3385C>T	c.(3385-3387)CGT>TGT	p.R1129C	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGCCATTACGGTATGCTTCA	0.383													A	91403345	G	A	91403345	3	1	209	1	0	0	0	0	1	0	0	0	18057	1116	39	1	610	1	ZNF644	1	91403345	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	12309703	91403345	157847276	7	111762											
GFI1	2672	broad.mit.edu	37	chr1	92944272	92944272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacagtgtggatgacctcttGaagctcttcccacagatctt	9	11	3	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:92944272G>A	uc001dou.3	-	6	1127	c.963C>T	c.(961-963)TTC>TTT	p.F321F	GFI1_uc001dov.3_Silent_p.F321F|GFI1_uc001dow.3_Silent_p.F321F	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	321	C2H2-type 3.				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			large_intestine(1)	1		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)		ATGACCTCTTGAAGCTCTTCC	0.433													A	92944272	G	A	92944272	2	1	209	1	0	0	0	0	0	0	0	1	6339	1281	45	4		4	GFI1	1	92944272	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	1540927	92944272	156306349	8	111763											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075742	145075742	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggggtctgccgtggggactGaggggttcgcgtcgcgtccc	19	12	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:145075742G>A	uc001emh.2	-	1	338	c.121C>T	c.(121-123)CAG>TAG	p.Q41*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Nonsense_Mutation_p.Q41*|PDE4DIP_uc001emk.2_Nonsense_Mutation_p.Q41*	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	715					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGTGGGGACTGAGGGGTTCGC	0.736			T	PDGFRB	MPD								A	145075742	G	A	145075742	4	1	209	1	0	0	0	0	0	1	0	0	11643	1299	45	4	8691	4	PDE4DIP	1	145075742	Nonsense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	52131470	145075742	104174879	9	111764											
ANKRD35	148741	broad.mit.edu	37	chr1	145562224	145562224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggggagttggggcgggagCggcagaggttgcagagggag	24	4	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:145562224C>T	uc001eob.1	+	10	2020	c.1912C>T	c.(1912-1914)CGG>TGG	p.R638W	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R481W	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	638	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGGCGGGAGCGGCAGAGGTT	0.607													T	145562224	C	T	145562224	3	4	209	1	0	0	0	0	1	0	0	0	664	759	27	1	1950	1	ANKRD35	1	145562224	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	486482	145562224	103688397	10	111765											
ETV3L	440695	broad.mit.edu	37	chr1	157062655	157062655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgcaccctgtcccagcCctgccaagagaggaagccct	9	19	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:157062655C>T	uc001fqq.1	-	5	1157	c.872G>A	c.(871-873)GGG>GAG	p.G291E		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	291						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTGTCCCAGCCCTGCCAAGAG	0.632													T	157062655	C	T	157062655	3	4	209	1	0	0	0	0	1	0	0	0	5280	623	22	4	217	4	ETV3L	1	157062655	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	11500431	157062655	92187966	11	111766											
KIRREL	55243	broad.mit.edu	37	chr1	158057640	158057640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccaaccccgagatcTtgggctacaggtgagggggt	14	12	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:158057640T>G	uc001frn.3	+	6	1161	c.757T>G	c.(757-759)TTG>GTG	p.L253V	KIRREL_uc010pib.1_Missense_Mutation_p.L153V|KIRREL_uc009wsq.2_Missense_Mutation_p.L89V|KIRREL_uc001fro.3_Missense_Mutation_p.L51V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	253	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCCCGAGATCTTGGGCTACAG	0.602											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	158057640	T	G	158057640	3	3	209	1	0	0	0	0	1	0	0	0	8324	1606	56	5	779	5	KIRREL	1	158057640	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	994985	158057640	91192981	12	111767											
CDC73	79577	broad.mit.edu	37	chr1	193107220	193107221	+	Frame_Shift_Del	DEL	AG	AG	-													agtggttatttccaggatgaAgagtgtgtgcgccttgataa							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:193107220_193107221delAG	uc001gtb.2	+	6	672_673	c.429_430delAG	c.(427-432)GAAGAGfs	p.E143fs		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	143_144					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						TCCAGGATGAAGAGTGTGTGCG	0.366									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				-	193107221	AG	-	193107220	7	5	209	1	0	1	0	1	0	0	0	0	3085	69	3	0	451	0	CDC73	1	193107220	Frame_Shift_Del	DEL	AG	TCGA-D7-6525-01A-11D-1800-08	35049580	193107220	56143401	13	111768											
KDM5B	10765	broad.mit.edu	37	chr1	202715452	202715452	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttccgaatcaatcactccCtagaataaagtatactttag	4	10	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:202715452C>G	uc001gyf.2	-	15	2133	c.2017_splice	c.e15-1	p.G673_splice	KDM5B_uc009xag.2_Splice_Site_p.G709_splice|KDM5B_uc001gyg.1_Splice_Site_p.G515_splice	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B						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			ovary(2)|breast(2)|urinary_tract(1)	5						CAATCACTCCCTAGAATAAAG	0.378													G	202715452	C	G	202715452	5	3	209	1	0	0	0	0	0	0	1	0	8134	695	24	5	2670	5	KDM5B	1	202715452	Splice_Site	SNP	C	TCGA-D7-6525-01A-11D-1800-08	9608232	202715452	46535169	14	111769											
OR2G2	81470	broad.mit.edu	37	chr1	247752185	247752185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccttctgtgggcatcGccaagtggatcatttcatct	10	12	4	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:247752185G>A	uc010pyy.1	+	1	524	c.524G>A	c.(523-525)CGC>CAC	p.R175H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			TGTGGGCATCGCCAAGTGGAT	0.552													A	247752185	G	A	247752185	3	1	209	1	0	0	0	0	1	0	0	0	10998	1087	38	1	526	1	OR2G2	1	247752185	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	45036733	247752185	1498436	15	111770											
OR2G3	81469	broad.mit.edu	37	chr1	247769166	247769166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccaaagaagacgatcacTtacggtggttgtgtggcgca	13	8	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:247769166T>C	uc010pyz.1	+	1	279	c.279T>C	c.(277-279)ACT>ACC	p.T93T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)			AGACGATCACTTACGGTGGTT	0.468													C	247769166	T	C	247769166	2	2	209	1	0	0	0	0	0	0	0	1	10999	1596	56	3		3	OR2G3	1	247769166	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	16981	247769166	1481455	16	111771											
OR2M4	26245	broad.mit.edu	37	chr1	248402821	248402821	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacatctgcatttgaaagActacttgtcatttgttgtgt	8	6	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr1:248402821A>G	uc010pzh.1	+	1	591	c.591A>G	c.(589-591)AGA>AGG	p.R197R		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	197	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	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)			CATTTGAAAGACTACTTGTCA	0.413													G	248402821	A	G	248402821	2	3	209	1	0	0	0	0	0	0	0	1	11012	272	10	3		3	OR2M4	1	248402821	Silent	SNP	A	TCGA-D7-6525-01A-11D-1800-08	633655	248402821	847800	17	111772											
PXDN	7837	broad.mit.edu	37	chr2	1652213	1652213	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctgagaagcggatcgatGccgccctcattcacaatccg	9	16	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:1652213G>T	uc002qxa.2	-	17	3403	c.3339C>A	c.(3337-3339)GGC>GGA	p.G1113G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1113					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			pancreas(6)|ovary(2)	8	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)		GCGGATCGATGCCGCCCTCAT	0.592													T	1652213	G	T	1652213	2	4	209	1	0	0	0	0	0	0	0	1	12847	1306	46	5		5	PXDN	2	1652213	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08		1652213	241547160	18	111773											
PXDN	7837	broad.mit.edu	37	chr2	1677547	1677547	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcccatcgtccagcaAgtttaggcgggaatctgtct	12	11	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:1677547A>C	uc002qxa.2	-	9	950	c.886T>G	c.(886-888)TTG>GTG	p.L296V	PXDN_uc002qxb.1_Missense_Mutation_p.L296V|PXDN_uc002qxc.1_Missense_Mutation_p.L113V	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	296	Ig-like C2-type 1.				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			pancreas(6)|ovary(2)	8	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)		TCGTCCAGCAAGTTTAGGCGG	0.502													C	1677547	A	C	1677547	3	2	209	1	0	0	0	0	1	0	0	0	12847	69	3	5	3613	5	PXDN	2	1677547	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	25334	1677547	241521826	19	111774											
PUM2	23369	broad.mit.edu	37	chr2	20511426	20511426	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcatctctagtgcccTgaggaaaaagaatctgtttg	9	8	3	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:20511426T>C	uc002rds.1	-	4	372	c.349_splice	c.e4-1	p.G117_splice	PUM2_uc002rdt.1_Splice_Site_p.G117_splice|PUM2_uc002rdr.2_Splice_Site_p.G56_splice|PUM2_uc010yjy.1_Splice_Site_p.G117_splice|PUM2_uc002rdu.1_Splice_Site_p.G117_splice|PUM2_uc010yjz.1_Splice_Site_p.G56_splice	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2						regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTAGTGCCCTGAGGAAAAAG	0.383													C	20511426	T	C	20511426	5	2	209	1	0	0	0	0	0	0	1	0	12826	1594	55	3	2915	3	PUM2	2	20511426	Splice_Site	SNP	T	TCGA-D7-6525-01A-11D-1800-08	18833879	20511426	222687947	20	111775											
OTOF	9381	broad.mit.edu	37	chr2	26688846	26688846	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagggttgagctgcttggaGatgtagttctccttgtcgcg	14	8	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:26688846G>A	uc002rhk.2	-	37	4726	c.4599C>T	c.(4597-4599)ATC>ATT	p.I1533I	OTOF_uc010yla.1_Silent_p.I263I|OTOF_uc002rhh.2_Silent_p.I766I|OTOF_uc002rhi.2_Silent_p.I843I|OTOF_uc002rhj.2_Silent_p.I766I	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1533	Cytoplasmic (Potential).|C2 4.				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTTGGAGATGTAGTTCT	0.582													A	26688846	G	A	26688846	2	1	209	1	0	0	0	0	0	0	0	1	11303	932	33	4		4	OTOF	2	26688846	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	6177420	26688846	216510527	21	111776											
CAD	790	broad.mit.edu	37	chr2	27465519	27465519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacctgaagcacggacGcacagtacattccctggcct	12	13	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:27465519G>A	uc002rji.2	+	41	6416	c.6254G>A	c.(6253-6255)CGC>CAC	p.R2085H	CAD_uc010eyw.2_Missense_Mutation_p.R2022H	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	2085	ATCase (Aspartate transcarbamylase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGCACGGACGCACAGTACAT	0.602													A	27465519	G	A	27465519	3	1	209	1	0	0	0	0	1	0	0	0	2565	1087	38	1	6416	1	CAD	2	27465519	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	776673	27465519	215733854	22	111777											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873541	37873541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtttccaggtaaaagctCgtagttcccttgaagaaagg	11	8	0	2	rs144011190	by1000genomes	TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:37873541C>T	uc002rqi.1	-	2	1183	c.190G>A	c.(190-192)GAG>AAG	p.E64K		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	64					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				GGTAAAAGCTCGTAGTTCCCT	0.527													T	37873541	C	T	37873541	3	4	209	1	0	0	0	0	1	0	0	0	3077	893	31	1	578	1	CDC42EP3	2	37873541	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	10408022	37873541	205325832	23	111778											
GFPT1	2673	broad.mit.edu	37	chr2	69555475	69555475	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctctcatgatgatcatgatCacaggcatcaatttatccac	5	11	5	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:69555475C>T	uc002sfh.2	-	17	1946	c.1767G>A	c.(1765-1767)GTG>GTA	p.V589V		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	607	SIS 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			skin(1)	1						TGATCATGATCACAGGCATCA	0.438													T	69555475	C	T	69555475	2	4	209	1	0	0	0	0	0	0	0	1	6345	813	29	4		4	GFPT1	2	69555475	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	31681934	69555475	173643898	24	111779											
GPAT2	150763	broad.mit.edu	37	chr2	96697824	96697824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacagcgacccacaaagGggcgatacttccccaggaat	11	13	0	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:96697824G>A	uc002svf.2	-	3	357	c.134C>T	c.(133-135)CCC>CTC	p.P45L	GPAT2_uc002svg.2_5'UTR|GPAT2_uc010yuh.1_Missense_Mutation_p.P45L|GPAT2_uc002svh.2_Missense_Mutation_p.P45L	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	45					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						ACCCACAAAGGGGCGATACTT	0.602													A	96697824	G	A	96697824	3	1	209	1	0	0	0	0	1	0	0	0	6589	1232	43	4	2333	4	GPAT2	2	96697824	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	27142349	96697824	146501549	25	111780											
EIF5B	9669	broad.mit.edu	37	chr2	100009484	100009484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggggtaaagattcttGgaaaagacctggagaaaaca	12	6	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:100009484G>A	uc002tab.2	+	18	2987	c.2803G>A	c.(2803-2805)GGA>AGA	p.G935R	EIF5B_uc010yvq.1_5'Flank	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	935					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AAAGATTCTTGGAAAAGACCT	0.343													A	100009484	G	A	100009484	3	1	209	1	0	0	0	0	1	0	0	0	5044	1349	47	4	2873	4	EIF5B	2	100009484	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	3311660	100009484	143189889	26	111781											
LRP1B	53353	broad.mit.edu	37	chr2	141250255	141250255	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagaattaaaaaaggTtcttcatctaaacaccaaca	4	9	4	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:141250255T>G	uc002tvj.1	-	57	10014	c.9042A>C	c.(9040-9042)GAA>GAC	p.E3014D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3014	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TTAAAAAAGGTTCTTCATCTA	0.338										TSP Lung(27;0.18)			G	141250255	T	G	141250255	3	3	209	1	0	0	0	0	1	0	0	0	8955	1722	60	5	4897	5	LRP1B	2	141250255	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	41240771	141250255	101949118	27	111782											
SCN9A	6335	broad.mit.edu	37	chr2	167141141	167141141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttggctgatgttactgCtgcgtcgctcctggggtctg	15	10	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:167141141C>T	uc010fpl.2	-	12	2137	c.1796G>A	c.(1795-1797)AGC>AAC	p.S599N	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S470N|SCN9A_uc002uds.1_Missense_Mutation_p.S470N|SCN9A_uc002udt.1_Missense_Mutation_p.S470N	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	599						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GATGTTACTGCTGCGTCGCTC	0.547													T	167141141	C	T	167141141	3	4	209	1	0	0	0	0	1	0	0	0	13925	797	28	2	4201	2	SCN9A	2	167141141	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	25890886	167141141	76058232	28	111783											
TTN	7273	broad.mit.edu	37	chr2	179654102	179654102	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctttccatgggtaacTtggatttgttcttgtctagt	9	8	3	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:179654102T>G	uc010zfg.1	-	13	2285	c.2061A>C	c.(2059-2061)CAA>CAC	p.Q687H	TTN_uc010zfh.1_Missense_Mutation_p.Q641H|TTN_uc010zfi.1_Missense_Mutation_p.Q641H|TTN_uc010zfj.1_Missense_Mutation_p.Q641H|TTN_uc002unb.2_Missense_Mutation_p.Q687H|TTN_uc010frg.1_Missense_Mutation_p.Q269H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	687							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGGTAACTTGGATTTGTT	0.353													G	179654102	T	G	179654102	3	3	209	1	0	0	0	0	1	0	0	0	16732	1606	56	5	109327	5	TTN	2	179654102	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	12512961	179654102	63545271	29	111784											
CCDC141	285025	broad.mit.edu	37	chr2	179702352	179702352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccctgagagcatgtcTtcaggcaggagcaggtcctg	12	12	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:179702352T>G	uc002unf.1	-	13	1926	c.1869A>C	c.(1867-1869)GAA>GAC	p.E623D	CCDC141_uc002une.1_Missense_Mutation_p.E73D	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	623							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAGCATGTCTTCAGGCAGGA	0.547													G	179702352	T	G	179702352	3	3	209	1	0	0	0	0	1	0	0	0	2775	1606	56	5	762	5	CCDC141	2	179702352	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	48250	179702352	63497021	30	111785											
DNAH7	56171	broad.mit.edu	37	chr2	196673538	196673538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccatgtacaaaggttGgcataaggattatccagtcc	11	8	0	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:196673538G>A	uc002utj.3	-	53	10052	c.9951C>T	c.(9949-9951)GCC>GCT	p.A3317A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3317					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TACAAAGGTTGGCATAAGGAT	0.418													A	196673538	G	A	196673538	2	1	209	1	0	0	0	0	0	0	0	1	4606	1335	47	4		4	DNAH7	2	196673538	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	16971186	196673538	46525835	31	111786											
MDH1B	130752	broad.mit.edu	37	chr2	207620121	207620121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaggcttttgagatgttcTtccgcctgcttgttgtcaaa	9	9	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:207620121T>C	uc002vbs.2	-	5	577	c.522A>G	c.(520-522)GAA>GAG	p.E174E	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.E174E|MDH1B_uc010fuj.2_Silent_p.E76E|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	174					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGAGATGTTCTTCCGCCTGCT	0.522													C	207620121	T	C	207620121	2	2	209	1	0	0	0	0	0	0	0	1	9409	1606	56	3		3	MDH1B	2	207620121	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	10946583	207620121	35579252	32	111787											
MAP2	4133	broad.mit.edu	37	chr2	210558112	210558112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacatgttatggggaaAgttttagaggaagaaaagga	14	1	0	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:210558112A>C	uc002vde.1	+	7	1466	c.1218A>C	c.(1216-1218)AAA>AAC	p.K406N	MAP2_uc002vdc.1_Missense_Mutation_p.K406N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K402N	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	406					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	TTATGGGGAAAGTTTTAGAGG	0.443													C	210558112	A	C	210558112	3	2	209	1	0	0	0	0	1	0	0	0	9235	69	3	5	1232	5	MAP2	2	210558112	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	2937991	210558112	32641261	33	111788											
FARSB	10056	broad.mit.edu	37	chr2	223488429	223488429	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatgtcggagaagttcAgtgagcttattaagaggaaa	12	4	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:223488429A>C	uc002vne.1	-	13	1226	c.1191T>G	c.(1189-1191)ACT>ACG	p.T397T	FARSB_uc010zlq.1_Silent_p.T417T|FARSB_uc002vnf.1_Silent_p.T298T	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	397					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			ovary(1)	1		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)	GGAGAAGTTCAGTGAGCTTAT	0.393													C	223488429	A	C	223488429	2	2	209	1	0	0	0	0	0	0	0	1	5680	175	7	5		5	FARSB	2	223488429	Silent	SNP	A	TCGA-D7-6525-01A-11D-1800-08	12930317	223488429	19710944	34	111789											
SPHKAP	80309	broad.mit.edu	37	chr2	228881277	228881277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctctgatctgtttcAatctgaatcaaaggcacttc	6	11	6	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:228881277A>G	uc002vpq.2	-	7	4340	c.4293T>C	c.(4291-4293)ATT>ATC	p.I1431I	SPHKAP_uc002vpp.2_Silent_p.I1431I|SPHKAP_uc010zlx.1_Silent_p.I1431I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1431						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		GATCTGTTTCAATCTGAATCA	0.458													G	228881277	A	G	228881277	2	3	209	1	0	0	0	0	0	0	0	1	15047	126	5	3		3	SPHKAP	2	228881277	Silent	SNP	A	TCGA-D7-6525-01A-11D-1800-08	5392848	228881277	14318096	35	111790											
ALPI	248	broad.mit.edu	37	chr2	233322819	233322819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgagcaggaacccccGcggcttctacctctttgtgg	11	15	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr2:233322819G>A	uc002vst.3	+	8	1045	c.968G>A	c.(967-969)CGC>CAC	p.R323H	ALPI_uc002vsu.3_Missense_Mutation_p.R234H	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	323					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGAACCCCCGCGGCTTCTAC	0.657													A	233322819	G	A	233322819	3	1	209	1	0	0	0	0	1	0	0	0	543	1087	38	1	998	1	ALPI	2	233322819	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	4441542	233322819	9876554	36	111791											
CNTN6	27255	broad.mit.edu	37	chr3	1418726	1418726	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacatccatggaggtggAggaagtcggtctgaactcgt	14	7	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr3:1418726A>G	uc003boz.2	+	17	2400	c.2133A>G	c.(2131-2133)GGA>GGG	p.G711G	CNTN6_uc011asj.1_Silent_p.G639G|CNTN6_uc003bpa.2_Silent_p.G711G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	711	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		ATGGAGGTGGAGGAAGTCGGT	0.398													G	1418726	A	G	1418726	2	3	209	1	0	0	0	0	0	0	0	1	3645	291	11	3		3	CNTN6	3	1418726	Silent	SNP	A	TCGA-D7-6525-01A-11D-1800-08		1418726	196603704	37	111792											
TRAK1	22906	broad.mit.edu	37	chr3	42260998	42260998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttagcgcaccatcctgGgaagtgcatgtctcagacca	9	12	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr3:42260998G>A	uc003cky.2	+	15	2192	c.1976G>A	c.(1975-1977)GGG>GAG	p.G659E	TRAK1_uc011azi.1_Missense_Mutation_p.G638E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	659					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						CACCATCCTGGGAAGTGCATG	0.473													A	42260998	G	A	42260998	3	1	209	1	0	0	0	0	1	0	0	0	16446	1232	43	4	2422	4	TRAK1	3	42260998	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	40842272	42260998	155761432	38	111793											
SFMBT1	51460	broad.mit.edu	37	chr3	52968852	52968852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctagcagcggaacaggagGactacatgctcctatcaggg	12	11	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr3:52968852G>A	uc003dgf.2	-	6	999	c.430C>T	c.(430-432)CCT>TCT	p.P144S	SFMBT1_uc010hmr.2_Missense_Mutation_p.P91S|SFMBT1_uc003dgg.2_Missense_Mutation_p.P144S|SFMBT1_uc003dgh.2_Missense_Mutation_p.P144S	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	144	MBT 2.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		GGAACAGGAGGACTACATGCT	0.428													A	52968852	G	A	52968852	3	1	209	1	0	0	0	0	1	0	0	0	14157	1174	41	4	2238	4	SFMBT1	3	52968852	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	10707854	52968852	145053578	39	111794											
FILIP1L	11259	broad.mit.edu	37	chr3	99569565	99569565	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgttgaagctggcgattttGactgtcctcattggtgagct	12	7	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr3:99569565G>A	uc003dtm.2	-	5	1418	c.955C>T	c.(955-957)CAA>TAA	p.Q319*	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.Q319*|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Nonsense_Mutation_p.Q79*|FILIP1L_uc003dtn.2_Nonsense_Mutation_p.Q79*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.Q79*	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	319	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TGGCGATTTTGACTGTCCTCA	0.478													A	99569565	G	A	99569565	4	1	209	1	0	0	0	0	0	1	0	0	5895	1299	45	4	2481	4	FILIP1L	3	99569565	Nonsense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	46600713	99569565	98452865	40	111795											
TRIM42	287015	broad.mit.edu	37	chr3	140397174	140397174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcatcttcacctcagagCggaactgcacctgcttcccc	7	16	4	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr3:140397174C>T	uc003eto.1	+	1	294	c.103C>T	c.(103-105)CGG>TGG	p.R35W		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	35	Cys-rich.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CACCTCAGAGCGGAACTGCAC	0.527													T	140397174	C	T	140397174	3	4	209	1	0	0	0	0	1	0	0	0	16514	759	27	1	105	1	TRIM42	3	140397174	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	40827609	140397174	57625256	41	111796											
PIGG	54872	broad.mit.edu	37	chr4	509771	509771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcttctaggtgatatccGacatccaaagcacgtccaac	6	13	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:509771G>A	uc003gak.3	+	6	1047	c.911G>A	c.(910-912)CGA>CAA	p.R304Q	PIGG_uc003gaj.3_Missense_Mutation_p.R304Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.R171Q|PIGG_uc003gal.3_Missense_Mutation_p.R215Q|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.R182Q|PIGG_uc003gam.2_Missense_Mutation_p.R215Q|PIGG_uc003gan.2_Missense_Mutation_p.R215Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	304	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GGTGATATCCGACATCCAAAG	0.433													A	509771	G	A	509771	3	1	209	1	0	0	0	0	1	0	0	0	11888	1058	37	1	933	1	PIGG	4	509771	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		509771	190644505	42	111797											
WFS1	7466	broad.mit.edu	37	chr4	6303278	6303278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggcgtgctgcagttcGcccggtggttcacgtctctg	16	11	2	0	rs143084511	byFrequency	TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:6303278G>A	uc003giy.2	+	8	1922	c.1756G>A	c.(1756-1758)GCC>ACC	p.A586T	WFS1_uc003gix.2_Missense_Mutation_p.A586T|WFS1_uc003giz.2_Missense_Mutation_p.A404T	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	586					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)	2				Colorectal(103;0.0512)		GCTGCAGTTCGCCCGGTGGTT	0.667													A	6303278	G	A	6303278	3	1	209	1	0	0	0	0	1	0	0	0	17357	1087	38	1	1782	1	WFS1	4	6303278	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	5793507	6303278	184850998	43	111798											
SLIT2	9353	broad.mit.edu	37	chr4	20487885	20487885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccatatgcctaaacTtaggactttgtaagtagtca	6	8	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:20487885T>G	uc003gpr.1	+	7	806	c.602T>G	c.(601-603)CTT>CGT	p.L201R	SLIT2_uc003gps.1_Missense_Mutation_p.L201R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	201					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			central_nervous_system(4)|skin(4)|ovary(3)	11						ATGCCTAAACTTAGGACTTTG	0.323													G	20487885	T	G	20487885	3	3	209	1	0	0	0	0	1	0	0	0	14740	1609	56	5	628	5	SLIT2	4	20487885	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	14184607	20487885	170666391	44	111799											
LIMCH1	22998	broad.mit.edu	37	chr4	41648596	41648596	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtacattgagaggttcAccatcagtgaggctgttctc	10	9	3	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:41648596A>C	uc003gvu.3	+	12	1405	c.1351A>C	c.(1351-1353)ACC>CCC	p.T451P	LIMCH1_uc003gvv.3_Missense_Mutation_p.T451P|LIMCH1_uc003gvw.3_Missense_Mutation_p.T451P|LIMCH1_uc003gvx.3_Missense_Mutation_p.T439P|LIMCH1_uc003gwe.3_Missense_Mutation_p.T451P|LIMCH1_uc003gvy.3_Missense_Mutation_p.T280P|LIMCH1_uc003gwa.3_Missense_Mutation_p.T292P|LIMCH1_uc003gvz.3_Missense_Mutation_p.T836P|LIMCH1_uc011byu.1_Missense_Mutation_p.T285P|LIMCH1_uc003gwc.3_Missense_Mutation_p.T297P|LIMCH1_uc003gwd.3_Missense_Mutation_p.T285P|LIMCH1_uc011byv.1_Missense_Mutation_p.T202P	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	451					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TGAGAGGTTCACCATCAGTGA	0.488													C	41648596	A	C	41648596	3	2	209	1	0	0	0	0	1	0	0	0	8797	159	6	5	1425	5	LIMCH1	4	41648596	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	21160711	41648596	149505680	45	111800											
BEND4	389206	broad.mit.edu	37	chr4	42145964	42145964	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccacaatttaagaggctaaGaactcgactgcactgctggg	10	10	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:42145964G>T	uc003gwn.2	-	3	1115	c.535C>A	c.(535-537)CTT>ATT	p.L179I	BEND4_uc003gwm.2_Missense_Mutation_p.L179I|BEND4_uc011byy.1_Missense_Mutation_p.L179I	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	179											0						AAGAGGCTAAGAACTCGACTG	0.448													T	42145964	G	T	42145964	3	4	209	1	0	0	0	0	1	0	0	0	1400	942	33	5	1085	5	BEND4	4	42145964	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	497368	42145964	149008312	46	111801											
GRXCR1	389207	broad.mit.edu	37	chr4	42895343	42895343	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaaagtccggtttcggatCgcgtcctctcacagtgggcg	14	12	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:42895343C>T	uc003gwt.2	+	1	60	c.60C>T	c.(58-60)ATC>ATT	p.I20I		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	20					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			ovary(1)	1						GGTTTCGGATCGCGTCCTCTC	0.507													T	42895343	C	T	42895343	2	4	209	1	0	0	0	0	0	0	0	1	6812	874	31	1		1	GRXCR1	4	42895343	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	749379	42895343	148258933	47	111802											
UGT2B28	54490	broad.mit.edu	37	chr4	70146482	70146482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actaaaactgaatttgagaaTatcatcatgcaacaggttaa	6	6	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:70146482T>A	uc003hej.2	+	1	266	c.264T>A	c.(262-264)AAT>AAA	p.N88K	UGT2B28_uc010ihr.2_Missense_Mutation_p.N88K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	88					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	AATTTGAGAATATCATCATGC	0.343													A	70146482	T	A	70146482	3	1	209	1	0	0	0	0	1	0	0	0	16957	1403	49	5	266	5	UGT2B28	4	70146482	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	27251139	70146482	121007794	48	111803											
C4orf40	401137	broad.mit.edu	37	chr4	71020099	71020099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagggtcaatcaaaatgaagCttctcctttgggcctgcatt	9	9	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:71020099C>A	uc003hfa.3	+	2	80	c.7C>A	c.(7-9)CTT>ATT	p.L3I	C4orf40_uc003hfb.3_Missense_Mutation_p.L3I	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	3						extracellular region					0						CAAAATGAAGCTTCTCCTTTG	0.284													A	71020099	C	A	71020099	3	1	209	1	0	0	0	0	1	0	0	0	2269	797	28	5	9	5	C4orf40	4	71020099	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	873617	71020099	120134177	49	111804											
TRPC3	7222	broad.mit.edu	37	chr4	122853799	122853799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggggctcagagtgagaCgcttgctggccgcgaagcca	15	12	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:122853799C>T	uc003ieg.2	-	2	688	c.614G>A	c.(613-615)CGT>CAT	p.R205H	TRPC3_uc010inr.2_Missense_Mutation_p.R132H|TRPC3_uc003ief.2_Missense_Mutation_p.R132H|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	120	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CAGAGTGAGACGCTTGCTGGC	0.647													T	122853799	C	T	122853799	3	4	209	1	0	0	0	0	1	0	0	0	16576	536	19	1	2195	1	TRPC3	4	122853799	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	51833700	122853799	68300477	50	111805											
EDNRA	1909	broad.mit.edu	37	chr4	148457038	148457038	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcactttgaagttctaccaaGatgtaaaggactggtggctc	10	8	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:148457038G>A	uc003iky.2	+	5	1449	c.757G>A	c.(757-759)GAT>AAT	p.D253N	EDNRA_uc011cid.1_Missense_Mutation_p.D28N|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.D144N	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A isoform a precursor	253	Extracellular (Potential).				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			ovary(1)|breast(1)	2	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GTTCTACCAAGATGTAAAGGA	0.418													A	148457038	G	A	148457038	3	1	209	1	0	0	0	0	1	0	0	0	4919	942	33	4	771	4	EDNRA	4	148457038	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	25603239	148457038	42697238	51	111806											
DCHS2	54798	broad.mit.edu	37	chr4	155242139	155242139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaagataatgagatgtcGtctcataatcaagttcctta	7	6	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr4:155242139G>A	uc003inw.2	-	14	3047	c.3047C>T	c.(3046-3048)ACG>ATG	p.T1016M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1016	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAGATGTCGTCTCATAATC	0.373													A	155242139	G	A	155242139	3	1	209	1	0	0	0	0	1	0	0	0	4288	1145	40	1	5751	1	DCHS2	4	155242139	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	6785101	155242139	35912137	52	111807											
DNAH5	1767	broad.mit.edu	37	chr5	13824336	13824336	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagattcatgtcccgtagtAcacgcatgacaatcgtggac	9	10	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:13824336A>T	uc003jfd.2	-	39	6593	c.6551T>A	c.(6550-6552)GTA>GAA	p.V2184E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2184					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GTCCCGTAGTACACGCATGAC	0.448									Kartagener_syndrome				T	13824336	A	T	13824336	3	4	209	1	0	0	0	0	1	0	0	0	4604	391	14	5	7487	5	DNAH5	5	13824336	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08		13824336	167090924	53	111808											
CAPSL	133690	broad.mit.edu	37	chr5	35910624	35910624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagggttcgattattatcGtcatccataattctaaacac	5	9	3	0	rs75736388	byFrequency	TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:35910624G>A	uc003jjt.1	-	3	254	c.159C>T	c.(157-159)GAC>GAT	p.D53D	CAPSL_uc003jju.1_Silent_p.D53D	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	53	EF-hand 1.|1 (Potential).					cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GATTATTATCGTCATCCATAA	0.313													A	35910624	G	A	35910624	2	1	209	1	0	0	0	0	0	0	0	1	2639	1136	40	1		1	CAPSL	5	35910624	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	22086288	35910624	145004636	54	111809											
NIPBL	25836	broad.mit.edu	37	chr5	37020626	37020626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggaaacagaaaaagcaatGaaatcacaaaaagatgaaga	8	5	1	5			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:37020626G>A	uc003jkl.3	+	26	5575	c.5076G>A	c.(5074-5076)ATG>ATA	p.M1692I	NIPBL_uc003jkk.3_Missense_Mutation_p.M1692I	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1692					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			AAAAAGCAATGAAATCACAAA	0.368													A	37020626	G	A	37020626	3	1	209	1	0	0	0	0	1	0	0	0	10428	1290	45	4	5174	4	NIPBL	5	37020626	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	1110002	37020626	143894634	55	111810											
C5orf42	65250	broad.mit.edu	37	chr5	37183749	37183749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgattacacattttccTtttatcagttggcttatgaa	5	7	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:37183749T>C	uc011cpa.1	-	26	4765	c.4534A>G	c.(4534-4536)AGG>GGG	p.R1512G	C5orf42_uc011coy.1_Missense_Mutation_p.R13G|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R587G|C5orf42_uc011cpb.1_Missense_Mutation_p.R393G	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1512										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CACATTTTCCTTTTATCAGTT	0.294													C	37183749	T	C	37183749	3	2	209	1	0	0	0	0	1	0	0	0	2301	1608	56	3	5167	3	C5orf42	5	37183749	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	163123	37183749	143731511	56	111811											
CMYA5	202333	broad.mit.edu	37	chr5	79031976	79031976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaagataatttggaaaacaGatcatataccttggcagaaa	8	5	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:79031976G>T	uc003kgc.2	+	2	7460	c.7388G>T	c.(7387-7389)AGA>ATA	p.R2463I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2463						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		TTGGAAAACAGATCATATACC	0.363													T	79031976	G	T	79031976	3	4	209	1	0	0	0	0	1	0	0	0	3590	942	33	5	7394	5	CMYA5	5	79031976	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	41848227	79031976	101883284	57	111812											
GPR98	84059	broad.mit.edu	37	chr5	89949196	89949196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgtcttatattaccaacTtcaccattttgaggcagcag	6	9	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:89949196T>G	uc003kju.2	+	20	3901	c.3805T>G	c.(3805-3807)TTC>GTC	p.F1269V	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1269	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TATTACCAACTTCACCATTTT	0.433													G	89949196	T	G	89949196	3	3	209	1	0	0	0	0	1	0	0	0	6721	1609	56	5	3883	5	GPR98	5	89949196	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	10917220	89949196	90966064	58	111813											
FBN2	2201	broad.mit.edu	37	chr5	127614390	127614390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtactgggcagttccagGaagtgggcaaagctcgcact	13	9	0	0	rs1801169		TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:127614390G>A	uc003kuu.2	-	57	7721	c.7282C>T	c.(7282-7284)CCT>TCT	p.P2428S		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2428	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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GCAGTTCCAGGAAGTGGGCAA	0.478													A	127614390	G	A	127614390	3	1	209	1	0	0	0	0	1	0	0	0	5703	1174	41	4	1492	4	FBN2	5	127614390	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	37665194	127614390	53300870	59	111814											
PCDHA1	56147	broad.mit.edu	37	chr5	140168138	140168138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgaactcacagcagaggCggcagagggtgtgctctagc	16	10	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:140168138C>T	uc003lhb.2	+	1	2263	c.2263C>T	c.(2263-2265)CGG>TGG	p.R755W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R755W	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	755	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGAGGCGGCAGAGGGT	0.617													T	140168138	C	T	140168138	3	4	209	1	0	0	0	0	1	0	0	0	11519	759	27	1	2265	1	PCDHA1	5	140168138	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	12553748	140168138	40747122	60	111815											
PCDHA13	56136	broad.mit.edu	37	chr5	140263569	140263569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgcccggggctggcagCgcgggaggcacagtgagcga	19	12	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:140263569C>T	uc003lif.2	+	1	1716	c.1716C>T	c.(1714-1716)AGC>AGT	p.S572S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S572S|PCDHA13_uc003lid.2_Silent_p.S572S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	572	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGGCAGCGCGGGAGGCA	0.697													T	140263569	C	T	140263569	2	4	209	1	0	0	0	0	0	0	0	1	11523	767	27	1		1	PCDHA13	5	140263569	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	95431	140263569	40651691	61	111816											
CYFIP2	26999	broad.mit.edu	37	chr5	156816394	156816394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtggagcgccatgcagttCgtgtactgcatccctgtggg	14	11	0	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:156816394C>T	uc003lwq.2	+	31	3543	c.3405C>T	c.(3403-3405)TTC>TTT	p.F1135F	CYFIP2_uc011ddn.1_Silent_p.F1109F|CYFIP2_uc011ddo.1_Silent_p.F939F|CYFIP2_uc003lwr.2_Silent_p.F1135F|CYFIP2_uc003lws.2_Silent_p.F1135F|CYFIP2_uc003lwt.2_Silent_p.F1038F|CYFIP2_uc011ddp.1_Silent_p.F869F|CYFIP2_uc003lwv.2_Silent_p.F90F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1160					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			CCATGCAGTTCGTGTACTGCA	0.617													T	156816394	C	T	156816394	2	4	209	1	0	0	0	0	0	0	0	1	4138	883	31	1		1	CYFIP2	5	156816394	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	16552825	156816394	24098866	62	111817											
HMMR	3161	broad.mit.edu	37	chr5	162901197	162901197	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattacaaattgattcacttCtgcaacaagagaaagtaatt	5	6	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr5:162901197C>A	uc003lzf.2	+	10	1218	c.1036C>A	c.(1036-1038)CTG>ATG	p.L346M	HMMR_uc003lzh.2_Missense_Mutation_p.L347M|HMMR_uc003lzg.2_Missense_Mutation_p.L331M|HMMR_uc011dem.1_Missense_Mutation_p.L260M	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	346						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TGATTCACTTCTGCAACAAGA	0.274													A	162901197	C	A	162901197	3	1	209	1	0	0	0	0	1	0	0	0	7242	912	32	5	1077	5	HMMR	5	162901197	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	6084803	162901197	18014063	63	111818											
NUP153	9972	broad.mit.edu	37	chr6	17675564	17675564	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcagcttctggggaccacaGaggtggcaatgaagtgttct	13	8	3	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr6:17675564G>C	uc003ncd.1	-	4	819	c.619C>G	c.(619-621)CTG>GTG	p.L207V	NUP153_uc011dje.1_Missense_Mutation_p.L207V|NUP153_uc010jpl.1_Missense_Mutation_p.L207V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	207					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			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGGGACCACAGAGGTGGCAAT	0.393													C	17675564	G	C	17675564	3	2	209	1	0	0	0	0	1	0	0	0	10755	933	33	5	3884	5	NUP153	6	17675564	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		17675564	153439503	64	111819											
TMEM200A	114801	broad.mit.edu	37	chr6	130761908	130761908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcggtgtggtggttcGcttctttgagcagcatttgc	15	7	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr6:130761908G>A	uc003qca.2	+	3	1212	c.341G>A	c.(340-342)CGC>CAC	p.R114H	TMEM200A_uc010kfh.2_Missense_Mutation_p.R114H|TMEM200A_uc010kfi.2_Missense_Mutation_p.R114H|TMEM200A_uc003qcb.2_Missense_Mutation_p.R114H	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	114	Extracellular (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTGGTGGTTCGCTTCTTTGAG	0.408													A	130761908	G	A	130761908	3	1	209	1	0	0	0	0	1	0	0	0	16120	1087	38	1	343	1	TMEM200A	6	130761908	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	113086344	130761908	40353159	65	111820											
GPR141	353345	broad.mit.edu	37	chr7	37780254	37780254	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggatgtttgggctgcccTtctgcaaatttgtgagtgcc	12	9	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr7:37780254T>G	uc003tfm.1	+	1	259	c.259T>G	c.(259-261)TTC>GTC	p.F87V	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	87	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						TGGGCTGCCCTTCTGCAAATT	0.488													G	37780254	T	G	37780254	3	3	209	1	0	0	0	0	1	0	0	0	6649	1609	56	5	261	5	GPR141	7	37780254	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08		37780254	121358409	66	111821											
AMPH	273	broad.mit.edu	37	chr7	38534094	38534094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcatagacttcatgcagcGactctgtgagcttcatggag	11	10	4	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr7:38534094G>A	uc003tgu.2	-	4	308	c.239C>T	c.(238-240)TCG>TTG	p.S80L	AMPH_uc003tgv.2_Missense_Mutation_p.S80L	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	80	BAR.|Potential.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TTCATGCAGCGACTCTGTGAG	0.532													A	38534094	G	A	38534094	3	1	209	1	0	0	0	0	1	0	0	0	588	1059	37	1	1920	1	AMPH	7	38534094	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	753840	38534094	120604569	67	111822											
ZNF107	51427	broad.mit.edu	37	chr7	64168394	64168394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaccttactacacaaaAgataattcatactggagaga	5	9	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr7:64168394A>G	uc003ttd.2	+	7	2498	c.1712A>G	c.(1711-1713)AAG>AGG	p.K571R	ZNF107_uc003tte.2_Missense_Mutation_p.K571R	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	571	C2H2-type 18; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACTACACAAAAGATAATTCAT	0.323													G	64168394	A	G	64168394	3	3	209	1	0	0	0	0	1	0	0	0	17712	72	3	3	1718	3	ZNF107	7	64168394	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	25634300	64168394	94970269	68	111823											
CDK14	5218	broad.mit.edu	37	chr7	90546950	90546950	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgcgaggtctgtcttAcatccaccagcgttatattt	9	10	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr7:90546950A>T	uc003uky.2	+	8	959	c.737A>T	c.(736-738)TAC>TTC	p.Y246F	CDK14_uc003ukz.1_Missense_Mutation_p.Y228F|CDK14_uc010les.1_Missense_Mutation_p.Y200F|CDK14_uc011khl.1_Missense_Mutation_p.Y117F	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	246	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			lung(3)|ovary(1)	4						GGTCTGTCTTACATCCACCAG	0.413													T	90546950	A	T	90546950	3	4	209	1	0	0	0	0	1	0	0	0	3130	391	14	5	709	5	CDK14	7	90546950	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	26378556	90546950	68591713	69	111824											
PON1	5444	broad.mit.edu	37	chr7	94937461	94937461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggattgtaagtaggggtcaAgaaaatagtgatcatttgtg	13	2	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr7:94937461A>G	uc003uns.2	-	6	657	c.560T>C	c.(559-561)CTT>CCT	p.L187P	PON1_uc011kih.1_Missense_Mutation_p.L187P	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	187					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			pancreas(1)	1	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)	GTAGGGGTCAAGAAAATAGTG	0.388													G	94937461	A	G	94937461	3	3	209	1	0	0	0	0	1	0	0	0	12248	72	3	3	523	3	PON1	7	94937461	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	4390511	94937461	64201202	70	111825											
DNAJB6	10049	broad.mit.edu	37	chr7	157177654	157177654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggcaacttcaaatcgaTatcaacttcaactaaaatgg	6	9	3	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr7:157177654T>C	uc003wnk.2	+	7	726	c.572T>C	c.(571-573)ATA>ACA	p.I191T	DNAJB6_uc003wnj.2_Missense_Mutation_p.I191T|DNAJB6_uc003wnl.2_Missense_Mutation_p.I178T|DNAJB6_uc011kvy.1_Missense_Mutation_p.I142T|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.I191T	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	191	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			ovary(2)	2	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)		TTCAAATCGATATCAACTTCA	0.408													C	157177654	T	C	157177654	3	2	209	1	0	0	0	0	1	0	0	0	4624	1406	49	3	594	3	DNAJB6	7	157177654	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	62240193	157177654	1961009	71	111826											
MCPH1	79648	broad.mit.edu	37	chr8	6312749	6312749	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaaacctcatgaggaattGaagaaaagtgggagaggcaa	12	5	2	4			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:6312749G>T	uc003wqi.2	+	9	1979	c.1911G>T	c.(1909-1911)TTG>TTT	p.L637F		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	637						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGAGGAATTGAAGAAAAGTG	0.368													T	6312749	G	T	6312749	3	4	209	1	0	0	0	0	1	0	0	0	9398	1281	45	5	1953	5	MCPH1	8	6312749	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		6312749	140051273	72	111827											
DLC1	10395	broad.mit.edu	37	chr8	13357278	13357278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actagtgtttctgtgctggcTtccagagaaagaaactgatc	10	8	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:13357278T>C	uc003wwm.2	-	2	747	c.303A>G	c.(301-303)GAA>GAG	p.E101E	DLC1_uc003wwn.2_Silent_p.E101E|DLC1_uc011kxy.1_Silent_p.E101E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	101					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTGTGCTGGCTTCCAGAGAAA	0.423													C	13357278	T	C	13357278	2	2	209	1	0	0	0	0	0	0	0	1	4550	1606	56	3		3	DLC1	8	13357278	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	7044529	13357278	133006744	73	111828											
PSD3	23362	broad.mit.edu	37	chr8	18729760	18729760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaataaaaactttcctccGttgttacttcagctgaaaga	5	9	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:18729760G>A	uc003wza.2	-	3	717	c.614C>T	c.(613-615)ACG>ATG	p.T205M		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	205					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACTTTCCTCCGTTGTTACTTC	0.438													A	18729760	G	A	18729760	3	1	209	1	0	0	0	0	1	0	0	0	12648	1145	40	1	2621	1	PSD3	8	18729760	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	5372482	18729760	127634262	74	111829											
UNC5D	137970	broad.mit.edu	37	chr8	35425650	35425650	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgttcatcaatgttacTaggcaacaggtggaggactt	12	6	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:35425650T>C	uc003xjr.1	+	3	685	c.357T>C	c.(355-357)ACT>ACC	p.T119T	UNC5D_uc003xjs.1_Silent_p.T114T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	119	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAATGTTACTAGGCAACAGG	0.512													C	35425650	T	C	35425650	2	2	209	1	0	0	0	0	0	0	0	1	16992	1509	53	3		3	UNC5D	8	35425650	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	16695890	35425650	110938372	75	111830											
DKK4	27121	broad.mit.edu	37	chr8	42231770	42231770	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgccctcttctggagcagaCctgtccctccaaaaggactg	9	14	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:42231770C>G	uc003xpb.2	-	4	634	c.523G>C	c.(523-525)GTC>CTC	p.V175L		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	175	DKK-type Cys-2.				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	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;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTGGAGCAGACCTGTCCCTCC	0.502													G	42231770	C	G	42231770	3	3	209	1	0	0	0	0	1	0	0	0	4547	507	18	5	155	5	DKK4	8	42231770	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	6806120	42231770	104132252	76	111831											
PXDNL	137902	broad.mit.edu	37	chr8	52323896	52323896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaatctcccctgctcttGccatttccacaatcagtggg	6	14	3	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:52323896G>A	uc003xqu.3	-	16	2077	c.1976C>T	c.(1975-1977)GCA>GTA	p.A659V	PXDNL_uc003xqt.3_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	659					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCTGCTCTTGCCATTTCCAC	0.502													A	52323896	G	A	52323896	3	1	209	1	0	0	0	0	1	0	0	0	12848	1319	46	2	2447	2	PXDNL	8	52323896	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	10092126	52323896	94040126	77	111832											
TCEA1	6917	broad.mit.edu	37	chr8	54891686	54891686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctctctgatggcttcttTggtcaagtttttccgcatct	8	10	4	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:54891686T>C	uc003xru.2	-	8	1047	c.724A>G	c.(724-726)AAA>GAA	p.K242E	TCEA1_uc003xrv.2_Missense_Mutation_p.K221E|TCEA1_uc011ldw.1_Missense_Mutation_p.K58E|TCEA1_uc010lyg.2_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	242	TFIIS central.				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				0		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)			ATGGCTTCTTTGGTCAAGTTT	0.438			T	PLAG1	salivary adenoma								C	54891686	T	C	54891686	3	2	209	1	0	0	0	0	1	0	0	0	15664	1821	63	3	193	3	TCEA1	8	54891686	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	2567790	54891686	91472336	78	111833											
VPS13B	157680	broad.mit.edu	37	chr8	100729456	100729456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattttctccttaaaacaaGtctcaaagaaagaagccgca	6	10	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:100729456G>A	uc003yiv.2	+	37	6698	c.6587G>A	c.(6586-6588)AGT>AAT	p.S2196N	VPS13B_uc003yiw.2_Missense_Mutation_p.S2171N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2196					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTAAAACAAGTCTCAAAGAA	0.383													A	100729456	G	A	100729456	3	1	209	1	0	0	0	0	1	0	0	0	17187	1029	36	4	6923	4	VPS13B	8	100729456	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	45837770	100729456	45634566	79	111834											
FLJ43860	389690	broad.mit.edu	37	chr8	142490526	142490526	+	Frame_Shift_Del	DEL	A	A	-													accacacatccgtgctcaggAacgggactgacttgatggcc							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:142490526delA	uc003ywi.2	-	7	854	c.773delT	c.(772-774)TTCfs	p.F258fs	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	258							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			CGTGCTCAGGAACGGGACTGA	0.632													-	142490526	A	-	142490526	7	5	209	1	0	1	0	1	0	0	0	0	5930	246	9	0	3279	0	FLJ43860	8	142490526	Frame_Shift_Del	DEL	A	TCGA-D7-6525-01A-11D-1800-08	41761070	142490526	3873496	80	111835											
ZNF34	80778	broad.mit.edu	37	chr8	145998712	145998712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacatgttggaactgtgcCggaaggccttcccacactcg	11	13	0	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr8:145998712C>A	uc003zdy.3	-	6	1724	c.1622G>T	c.(1621-1623)CGG>CTG	p.R541L	ZNF34_uc010mgb.2_Missense_Mutation_p.R438L|ZNF34_uc003zdx.3_Missense_Mutation_p.R520L	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	541	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GGAACTGTGCCGGAAGGCCTT	0.587													A	145998712	C	A	145998712	3	1	209	1	0	0	0	0	1	0	0	0	17853	652	23	5	64	5	ZNF34	8	145998712	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	3508186	145998712	365310	81	111836											
BNC2	54796	broad.mit.edu	37	chr9	16436469	16436469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctggagtgagtaaacTtctataaaatggaggaactg	10	7	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr9:16436469T>G	uc003zml.2	-	6	1863	c.1723A>C	c.(1723-1725)AGT>CGT	p.S575R	BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGAGTAAACTTCTATAAAAT	0.517													G	16436469	T	G	16436469	3	3	209	1	0	0	0	0	1	0	0	0	1475	1609	56	5	1584	5	BNC2	9	16436469	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08		16436469	124776962	82	111837											
SETX	23064	broad.mit.edu	37	chr9	135202556	135202556	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccttctttcaaagctgccaTctctatatgacgtgctgttg	7	11	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr9:135202556T>A	uc004cbk.2	-	10	4612	c.4429A>T	c.(4429-4431)ATG>TTG	p.M1477L	SETX_uc004cbj.2_Missense_Mutation_p.M1096L|SETX_uc010mzt.2_Missense_Mutation_p.M1096L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1477					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAGCTGCCATCTCTATATGA	0.413													A	135202556	T	A	135202556	3	1	209	1	0	0	0	0	1	0	0	0	14141	1435	50	5	3672	5	SETX	9	135202556	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	118766087	135202556	6010875	83	111838											
BARHL1	56751	broad.mit.edu	37	chr9	135462862	135462862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcagaagtacctgagcGtgcaggaccgcatggagctc	15	11	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr9:135462862G>A	uc004cbp.1	+	2	805	c.613G>A	c.(613-615)GTG>ATG	p.V205M		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	205	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GTACCTGAGCGTGCAGGACCG	0.667													A	135462862	G	A	135462862	3	1	209	1	0	0	0	0	1	0	0	0	1313	1145	40	1	619	1	BARHL1	9	135462862	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	260306	135462862	5750569	84	111839											
USP6NL	9712	broad.mit.edu	37	chr10	11523795	11523795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggtctaactttgccCgctttagttctgtcatagaa	9	9	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr10:11523795C>T	uc001ikt.3	-	14	1373	c.1052G>A	c.(1051-1053)CGG>CAG	p.R351Q	USP6NL_uc001iks.1_Missense_Mutation_p.R368Q	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	351						intracellular	Rab GTPase activator activity				0						TAACTTTGCCCGCTTTAGTTC	0.363													T	11523795	C	T	11523795	3	4	209	1	0	0	0	0	1	0	0	0	17084	652	23	1	1442	1	USP6NL	10	11523795	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08		11523795	124010952	85	111840											
C1QL3	389941	broad.mit.edu	37	chr10	16562644	16562644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgtcgaacttgagcacctCgtagccttcatgctgccgct	10	14	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr10:16562644C>T	uc001ioj.1	-	1	1361	c.421G>A	c.(421-423)GAG>AAG	p.E141K		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	141	C1q.					collagen				ovary(1)	1						TTGAGCACCTCGTAGCCTTCA	0.602													T	16562644	C	T	16562644	3	4	209	1	0	0	0	0	1	0	0	0	1960	893	31	1	354	1	C1QL3	10	16562644	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	5038849	16562644	118972103	86	111841											
BICC1	80114	broad.mit.edu	37	chr10	60560026	60560026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctgagtgcaaatcacgggGatccgtccatccagacaagt	11	11	1	2	rs34714605		TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr10:60560026G>T	uc001jki.1	+	13	1798	c.1798G>T	c.(1798-1800)GAT>TAT	p.D600Y	BICC1_uc001jkj.1_Missense_Mutation_p.D241Y	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	600					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AAATCACGGGGATCCGTCCAT	0.403													T	60560026	G	T	60560026	3	4	209	1	0	0	0	0	1	0	0	0	1427	1174	41	5	1848	5	BICC1	10	60560026	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	43997382	60560026	74974721	87	111842											
CPN1	1369	broad.mit.edu	37	chr10	101835745	101835745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcctggatgagctggaCgatgcgctggttcctgttcc	14	11	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr10:101835745C>T	uc001kql.2	-	2	603	c.343G>A	c.(343-345)GTC>ATC	p.V115I		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	115	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATGAGCTGGACGATGCGCTGG	0.617													T	101835745	C	T	101835745	3	4	209	1	0	0	0	0	1	0	0	0	3809	536	19	1	1065	1	CPN1	10	101835745	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	41275719	101835745	33699002	88	111843											
ATRNL1	26033	broad.mit.edu	37	chr10	117059577	117059577	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggcttgcgcaagatcAatatatcctattggggatgg	14	6	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr10:117059577A>C	uc001lcg.2	+	16	2835	c.2449A>C	c.(2449-2451)AAT>CAT	p.N817H	ATRNL1_uc010qsm.1_5'UTR|ATRNL1_uc010qsn.1_5'Flank	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	817	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		GCGCAAGATCAATATATCCTA	0.408													C	117059577	A	C	117059577	3	2	209	1	0	0	0	0	1	0	0	0	1207	130	5	5	2511	5	ATRNL1	10	117059577	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	15223832	117059577	18475170	89	111844											
OR51M1	390059	broad.mit.edu	37	chr11	5411155	5411155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctattgtcctcctcctgaAggcttttccctactgtggat	7	14	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:5411155A>G	uc010qzc.1	+	1	527	c.527A>G	c.(526-528)AAG>AGG	p.K176R	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	176						integral to membrane	olfactory receptor activity				0		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)		CTCCTCCTGAAGGCTTTTCCC	0.512													G	5411155	A	G	5411155	3	3	209	1	0	0	0	0	1	0	0	0	11103	72	3	3	529	3	OR51M1	11	5411155	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08		5411155	129595361	90	111845											
NELL1	4745	broad.mit.edu	37	chr11	20959354	20959354	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtatctatggaggaaaAgttcttgcagaaggccagcg	12	6	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:20959354A>C	uc001mqe.2	+	10	1173	c.1020A>C	c.(1018-1020)AAA>AAC	p.K340N	NELL1_uc001mqf.2_Missense_Mutation_p.K340N|NELL1_uc009yid.2_Missense_Mutation_p.K368N|NELL1_uc010rdo.1_Missense_Mutation_p.K283N|NELL1_uc010rdp.1_Missense_Mutation_p.K100N	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	340	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						ATGGAGGAAAAGTTCTTGCAG	0.403													C	20959354	A	C	20959354	3	2	209	1	0	0	0	0	1	0	0	0	10333	69	3	5	1058	5	NELL1	11	20959354	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	15548199	20959354	114047162	91	111846											
CD44	960	broad.mit.edu	37	chr11	35232982	35232982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattccaactctaatgtcaAtcgttccttatcaggtaatt	5	9	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:35232982A>G	uc001mvu.2	+	14	2230	c.1796A>G	c.(1795-1797)AAT>AGT	p.N599S	CD44_uc001mvv.2_Missense_Mutation_p.N556S|CD44_uc001mvw.2_Missense_Mutation_p.N350S|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Missense_Mutation_p.N286S|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.N163S|CD44_uc010ret.1_RNA|CD44_uc010reu.1_Missense_Mutation_p.N127S	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	599	Extracellular (Potential).|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			pancreas(1)	1	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)	TCTAATGTCAATCGTTCCTTA	0.383													G	35232982	A	G	35232982	3	3	209	1	0	0	0	0	1	0	0	0	3017	101	4	3	1850	3	CD44	11	35232982	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	14273628	35232982	99773534	92	111847											
RAG1	5896	broad.mit.edu	37	chr11	36594879	36594879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctttcccacccaccTtgggactcagttctgcccca	6	19	3	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:36594879T>G	uc001mwu.3	+	2	149	c.25T>G	c.(25-27)TTG>GTG	p.L9V	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	9	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			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				CCCACCCACCTTGGGACTCAG	0.423									Familial_Hemophagocytic_Lymphohistiocytosis				G	36594879	T	G	36594879	3	3	209	1	0	0	0	0	1	0	0	0	13003	1606	56	5	27	5	RAG1	11	36594879	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	1361897	36594879	98411637	93	111848											
LRRC4C	57689	broad.mit.edu	37	chr11	40136913	40136913	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttatccaccagctgagccaCagtatgtcacagttacagtt	7	11	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:40136913C>A	uc001mxa.1	-	2	2894	c.930G>T	c.(928-930)CTG>CTT	p.L310L	LRRC4C_uc001mxc.1_Silent_p.L306L|LRRC4C_uc001mxd.1_Silent_p.L306L|LRRC4C_uc001mxb.1_Silent_p.L306L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	310	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTGAGCCACAGTATGTCAC	0.478													A	40136913	C	A	40136913	2	1	209	1	0	0	0	0	0	0	0	1	9008	465	17	5		5	LRRC4C	11	40136913	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	3542034	40136913	94869603	94	111849											
CHST1	8534	broad.mit.edu	37	chr11	45671646	45671646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagttggagaagtcctcGcacaccgtggtcagctgcgt	14	11	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:45671646G>A	uc001mys.1	-	4	1499	c.828C>T	c.(826-828)TGC>TGT	p.C276C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	276	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGAAGTCCTCGCACACCGTGG	0.647													A	45671646	G	A	45671646	2	1	209	1	0	0	0	0	0	0	0	1	3397	1079	38	1		1	CHST1	11	45671646	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	5534733	45671646	89334870	95	111850											
OR4A47	403253	broad.mit.edu	37	chr11	48510689	48510689	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggtctttctcctgttggtGatggcctatgactgctatgt	12	8	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:48510689G>T	uc010rhx.1	+	1	345	c.345G>T	c.(343-345)GTG>GTT	p.V115V		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TCCTGTTGGTGATGGCCTATG	0.473													T	48510689	G	T	48510689	2	4	209	1	0	0	0	0	0	0	0	1	11042	1277	45	5		5	OR4A47	11	48510689	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	2839043	48510689	86495827	96	111851											
OR8H3	390152	broad.mit.edu	37	chr11	55890635	55890635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttacttacttaaagccaAgaaagtcttattccttggga	6	7	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:55890635A>G	uc001nii.1	+	1	787	c.787A>G	c.(787-789)AGA>GGA	p.R263G		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CTTAAAGCCAAGAAAGTCTTA	0.388													G	55890635	A	G	55890635	3	3	209	1	0	0	0	0	1	0	0	0	11239	64	3	3	789	3	OR8H3	11	55890635	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	7379946	55890635	79115881	97	111852											
OR9Q2	219957	broad.mit.edu	37	chr11	57958763	57958763	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagacaacacaggccagtcCtccgagggagaccgagtggt	14	12	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:57958763C>A	uc010rka.1	+	1	801	c.801C>A	c.(799-801)TCC>TCA	p.S267S		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				CAGGCCAGTCCTCCGAGGGAG	0.562													A	57958763	C	A	57958763	2	1	209	1	0	0	0	0	0	0	0	1	11256	668	24	5		5	OR9Q2	11	57958763	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	2068128	57958763	77047753	98	111853											
TYR	7299	broad.mit.edu	37	chr11	88961116	88961116	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaacgatcctatcttccttCttcaccatgcatttgttgac	4	14	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:88961116C>A	uc001pcs.2	+	3	1244	c.1162C>A	c.(1162-1164)CTT>ATT	p.L388I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	388	Lumenal, melanosome (Potential).				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			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TATCTTCCTTCTTCACCATGC	0.398									Oculocutaneous_Albinism				A	88961116	C	A	88961116	3	1	209	1	0	0	0	0	1	0	0	0	16810	913	32	5	1172	5	TYR	11	88961116	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	31002353	88961116	46045400	99	111854											
FAM76B	143684	broad.mit.edu	37	chr11	95509183	95509183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtctgcctttagttcaGttaactgagagattaaagaa	9	5	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:95509183G>A	uc001pfn.2	-	9	1145	c.833C>T	c.(832-834)ACT>ATT	p.T278I	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	278	Potential.										0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTTAGTTCAGTTAACTGAGA	0.313													A	95509183	G	A	95509183	3	1	209	1	0	0	0	0	1	0	0	0	5625	1029	36	4	194	4	FAM76B	11	95509183	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	6548067	95509183	39497333	100	111855											
DRD2	1813	broad.mit.edu	37	chr11	113295233	113295233	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcacgttgccgaagacgatGacagcgatgagcagggtgag	16	8	0	4			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:113295233G>T	uc001pnz.2	-	1	462	c.141C>A	c.(139-141)GTC>GTA	p.V47V	DRD2_uc010rwv.1_Silent_p.V47V|DRD2_uc001poa.3_Silent_p.V47V|DRD2_uc001pob.3_Silent_p.V47V|DRD2_uc009yyr.1_Silent_p.V47V	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	47	Helical; Name=1; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		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)	CGAAGACGATGACAGCGATGA	0.617													T	113295233	G	T	113295233	2	4	209	1	0	0	0	0	0	0	0	1	4757	1277	45	5		5	DRD2	11	113295233	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	17786050	113295233	21711283	101	111856											
OR8B4	283162	broad.mit.edu	37	chr11	124294043	124294043	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagcaacagcaattatgtggGagccccatgtgctaaaggct	12	9	0	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:124294043G>C	uc010sak.1	-	1	725	c.725C>G	c.(724-726)TCC>TGC	p.S242C		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		AATTATGTGGGAGCCCCATGT	0.463													C	124294043	G	C	124294043	3	2	209	1	0	0	0	0	1	0	0	0	11229	1174	41	5	206	5	OR8B4	11	124294043	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	10998810	124294043	10712473	102	111857											
OPCML	4978	broad.mit.edu	37	chr11	132290089	132290089	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacctaggatttcttatcAaaacttgatgaagaagtggg	11	5	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr11:132290089A>G	uc001qgs.2	-	7	1086	c.1036T>C	c.(1036-1038)TGA>CGA	p.*346R	OPCML_uc001qgu.2_Nonstop_Mutation_p.*339R|OPCML_uc010sck.1_Nonstop_Mutation_p.*355R|OPCML_uc001qgt.2_Nonstop_Mutation_p.*345R|OPCML_uc010scl.1_Nonstop_Mutation_p.*305R	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	346					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	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)		ATTTCTTATCAAAACTTGATG	0.478													G	132290089	A	G	132290089	4	3	209	1	0	0	0	0	0	0	0	0	10874	143	5	3	5	3	OPCML	11	132290089	Nonstop_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	7996046	132290089	2716427	103	111858											
KCNA1	3736	broad.mit.edu	37	chr12	5020801	5020801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttcttcgaccgcaaccGgcccagcttcgacgccatcc	8	18	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:5020801G>A	uc001qnh.2	+	2	1362	c.257G>A	c.(256-258)CGG>CAG	p.R86Q		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	86					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACCGCAACCGGCCCAGCTTC	0.612													A	5020801	G	A	5020801	3	1	209	1	0	0	0	0	1	0	0	0	8001	1116	39	1	259	1	KCNA1	12	5020801	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		5020801	128831094	104	111859											
GAPDH	2597	broad.mit.edu	37	chr12	6647006	6647006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgatgacatcaagaaggTggtgaagcaggcgtcggagg	16	5	1	4			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:6647006T>C	uc001qop.1	+	8	884	c.782T>C	c.(781-783)GTG>GCG	p.V261A	GAPDH_uc009zep.1_Missense_Mutation_p.V219A|GAPDH_uc001qoq.1_Missense_Mutation_p.V186A|GAPDH_uc001qor.1_Missense_Mutation_p.V220A|GAPDH_uc001qos.1_Missense_Mutation_p.V261A|GAPDH_uc001qot.1_Missense_Mutation_p.V261A|GAPDH_uc001qou.1_Missense_Mutation_p.V220A|GAPDH_uc001qov.1_Missense_Mutation_p.V219A|GAPDH_uc001qow.1_Missense_Mutation_p.V214A|GAPDH_uc001qox.1_Missense_Mutation_p.V87A	NM_002046	NP_002037	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	261					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding				0					NADH(DB00157)	ATCAAGAAGGTGGTGAAGCAG	0.587											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	6647006	T	C	6647006	3	2	209	1	0	0	0	0	1	0	0	0	6236	1696	59	3	808	3	GAPDH	12	6647006	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	1626205	6647006	127204889	105	111860											
ETV6	2120	broad.mit.edu	37	chr12	12022503	12022503	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcggcccctccggtcCcccctggacaacatgatccg	11	18	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:12022503C>G	uc001qzz.2	+	5	883	c.609C>G	c.(607-609)TCC>TCG	p.S203S	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	203						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCTCCGGTCCCCCCTGGACA	0.632			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								G	12022503	C	G	12022503	2	3	209	1	0	0	0	0	0	0	0	1	5283	610	22	5		5	ETV6	12	12022503	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	5375497	12022503	121829392	106	111861											
ST8SIA1	6489	broad.mit.edu	37	chr12	22408298	22408298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaccaccgcgcatttcTtcaatggcagctggaatggg	10	13	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:22408298T>G	uc001rfo.3	-	3	889	c.407A>C	c.(406-408)AAG>ACG	p.K136T	ST8SIA1_uc009zix.2_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	136	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						CGCGCATTTCTTCAATGGCAG	0.478													G	22408298	T	G	22408298	3	3	209	1	0	0	0	0	1	0	0	0	15230	1609	56	5	675	5	ST8SIA1	12	22408298	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	10385795	22408298	111443597	107	111862											
ARID2	196528	broad.mit.edu	37	chr12	46231349	46231349	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatttgtgaatatgtggatCaggattcctacagagagatc	10	5	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:46231349C>T	uc001ros.1	+	10	1189	c.1189C>T	c.(1189-1191)CAG>TAG	p.Q397*	ARID2_uc001ror.2_Nonsense_Mutation_p.Q397*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q43*|ARID2_uc001rot.1_Nonsense_Mutation_p.Q43*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	397					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		ATATGTGGATCAGGATTCCTA	0.368													T	46231349	C	T	46231349	4	4	209	1	0	0	0	0	0	1	0	0	915	827	29	4	1227	4	ARID2	12	46231349	Nonsense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	23823051	46231349	87620546	108	111863											
SCN8A	6334	broad.mit.edu	37	chr12	52100394	52100394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaggagaggagaaaggGgatcccgagaaggtgtttaa	16	4	1	4			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:52100394G>A	uc001ryw.2	+	11	1708	c.1530G>A	c.(1528-1530)GGG>GGA	p.G510G	SCN8A_uc010snl.1_Silent_p.G375G|SCN8A_uc001ryx.1_Silent_p.G375G|SCN8A_uc001ryz.1_Silent_p.G375G|SCN8A_uc001ryy.2_Silent_p.G375G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	510					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGAGAAAGGGGATCCCGAGA	0.453													A	52100394	G	A	52100394	2	1	209	1	0	0	0	0	0	0	0	1	13924	1219	43	4		4	SCN8A	12	52100394	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	5869045	52100394	81751501	109	111864											
HOXC6	3223	broad.mit.edu	37	chr12	54423485	54423485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggccgccagatctactcGcggtaccagaccctggaact	11	16	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:54423485G>A	uc001sev.2	+	2	559	c.447G>A	c.(445-447)TCG>TCA	p.S149S	HOXC6_uc001ses.2_Silent_p.S67S|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	149	Homeobox.				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGATCTACTCGCGGTACCAGA	0.597													A	54423485	G	A	54423485	2	1	209	1	0	0	0	0	0	0	0	1	7315	1074	38	1		1	HOXC6	12	54423485	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	2323091	54423485	79428410	110	111865											
NAV3	89795	broad.mit.edu	37	chr12	78444720	78444720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcgcagtggtaccagtcGattcatccacacagacccct	7	16	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:78444720G>A	uc001syp.2	+	11	2482	c.2309G>A	c.(2308-2310)CGA>CAA	p.R770Q	NAV3_uc001syo.2_Missense_Mutation_p.R770Q|NAV3_uc010sub.1_Missense_Mutation_p.R270Q	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	770						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R770Q(1)		large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GGTACCAGTCGATTCATCCAC	0.592										HNSCC(70;0.22)			A	78444720	G	A	78444720	3	1	209	1	0	0	0	0	1	0	0	0	10185	1058	37	1	2351	1	NAV3	12	78444720	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	24021235	78444720	55407175	111	111866											
LIN7A	8825	broad.mit.edu	37	chr12	81283099	81283099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcttgtgcactggtacTtctccagattcctgtagttt	9	9	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:81283099T>G	uc001szj.1	-	2	325	c.132A>C	c.(130-132)GAA>GAC	p.E44D	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	44	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						GCACTGGTACTTCTCCAGATT	0.333													G	81283099	T	G	81283099	3	3	209	1	0	0	0	0	1	0	0	0	8810	1606	56	5	585	5	LIN7A	12	81283099	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	2838379	81283099	52568796	112	111867											
IKBIP	121457	broad.mit.edu	37	chr12	99007790	99007790	+	Frame_Shift_Del	DEL	T	T	-													cacctatattttttactgtaTttttttctactttctctatt							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:99007790delT	uc001tfv.2	-	3	736	c.626delA	c.(625-627)AATfs	p.N209fs	IKBIP_uc001tfw.2_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	IKK interacting protein isoform 2	209	Potential.				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding				0						TTTTACTGTATTTTTTTCTAC	0.318													-	99007790	T	-	99007790	7	5	209	1	0	1	0	1	0	0	0	0	7609	1493	52	0	430	0	IKBIP	12	99007790	Frame_Shift_Del	DEL	T	TCGA-D7-6525-01A-11D-1800-08	17724691	99007790	34844105	113	111868											
CUX2	23316	broad.mit.edu	37	chr12	111779799	111779799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcagaccatcgagctcCtctccttccagctcaacctc	6	19	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:111779799C>A	uc001tsa.1	+	21	3754	c.3601C>A	c.(3601-3603)CTC>ATC	p.L1201I		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1201	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CATCGAGCTCCTCTCCTTCCA	0.607													A	111779799	C	A	111779799	3	1	209	1	0	0	0	0	1	0	0	0	4065	681	24	5	3683	5	CUX2	12	111779799	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	12772009	111779799	22072096	114	111869											
TMEM132D	121256	broad.mit.edu	37	chr12	129563232	129563232	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgtccagcacagtgatggtCttttcagcgaggatggtgtc	13	9	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:129563232C>A	uc009zyl.1	-	8	2290	c.1962G>T	c.(1960-1962)AAG>AAT	p.K654N	TMEM132D_uc001uia.2_Missense_Mutation_p.K192N	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	654	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		CAGTGATGGTCTTTTCAGCGA	0.567													A	129563232	C	A	129563232	3	1	209	1	0	0	0	0	1	0	0	0	16044	912	32	5	1345	5	TMEM132D	12	129563232	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	17783433	129563232	4288663	115	111870											
GOLGA3	2802	broad.mit.edu	37	chr12	133357449	133357449	+	Frame_Shift_Del	DEL	G	G	-													ggcctgcagggcctggacaaGatgcttcatctggcgatcct							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr12:133357448_133357448AG>A	uc001ukz.1	-	17	4077	c.3518_3518CT>T	c.(3517-3519)cttfs	p.L1173fs	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Frame_Shift_Del_p.L1173fs	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1173					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)		GGCCTGGACAAGATGCTTCAT	0.542													-	133357449	G	-	133357449	7	5	209	1	0	1	0	1	0	0	0	0	6554	942	33	0	1007	0	GOLGA3	12	133357449	Frame_Shift_Del	DEL	G	TCGA-D7-6525-01A-11D-1800-08	3794217	133357449	494446	116	111871											
SACS	26278	broad.mit.edu	37	chr13	23905184	23905184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctaccagagaaaagaggAggaatgcttctcaggccagg	12	9	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:23905184A>G	uc001uon.2	-	10	13420	c.12831T>C	c.(12829-12831)CCT>CCC	p.P4277P	SACS_uc001uoo.2_Silent_p.P4130P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4277					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		AGAAAAGAGGAGGAATGCTTC	0.463													G	23905184	A	G	23905184	2	3	209	1	0	0	0	0	0	0	0	1	13804	291	11	3		3	SACS	13	23905184	Silent	SNP	A	TCGA-D7-6525-01A-11D-1800-08		23905184	91264694	117	111872											
HSPH1	10808	broad.mit.edu	37	chr13	31725791	31725791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcagacacttgaaaagcTgaatgtcccatatcaacaaa	6	10	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:31725791T>C	uc001utj.2	-	6	1016	c.618A>G	c.(616-618)TCA>TCG	p.S206S	HSPH1_uc001utk.2_Silent_p.S206S|HSPH1_uc010aaw.2_Silent_p.S165S|HSPH1_uc001utl.2_Silent_p.S208S|HSPH1_uc010tds.1_Intron|HSPH1_uc010tdt.1_Intron	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	206					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		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)		CTTGAAAAGCTGAATGTCCCA	0.373													C	31725791	T	C	31725791	2	2	209	1	0	0	0	0	0	0	0	1	7431	1567	55	3		3	HSPH1	13	31725791	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	7820607	31725791	83444087	118	111873											
NBEA	26960	broad.mit.edu	37	chr13	36242529	36242529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctgagcagtgacggcCagaacctggtcaccggaggg	14	12	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:36242529C>A	uc001uvb.2	+	57	8829	c.8623C>A	c.(8623-8625)CAG>AAG	p.Q2875K	NBEA_uc010abi.2_Missense_Mutation_p.Q1533K|NBEA_uc010tef.1_Missense_Mutation_p.Q668K|NBEA_uc001uvd.2_Missense_Mutation_p.Q453K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2875	WD 4.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CAGTGACGGCCAGAACCTGGT	0.418													A	36242529	C	A	36242529	3	1	209	1	0	0	0	0	1	0	0	0	10187	595	21	5	8849	5	NBEA	13	36242529	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	4516738	36242529	78927349	119	111874											
TRPC4	7223	broad.mit.edu	37	chr13	38229234	38229234	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaacttacagcaatcagTtggtaagaattattcatcat	7	7	4	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:38229234T>C	uc001uws.2	-	7	2110	c.1875A>G	c.(1873-1875)CAA>CAG	p.Q625Q	TRPC4_uc010abv.2_Silent_p.Q205Q|TRPC4_uc001uwt.2_Silent_p.Q625Q|TRPC4_uc010tey.1_Silent_p.Q625Q|TRPC4_uc010abw.2_Silent_p.Q452Q|TRPC4_uc010abx.2_Silent_p.Q625Q|TRPC4_uc010aby.2_Silent_p.Q625Q	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	625	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|breast(1)	6				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)		CAGCAATCAGTTGGTAAGAAT	0.338													C	38229234	T	C	38229234	2	2	209	1	0	0	0	0	0	0	0	1	16577	1722	60	3		3	TRPC4	13	38229234	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	1986705	38229234	76940644	120	111875											
SLITRK5	26050	broad.mit.edu	37	chr13	88329829	88329829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcggccacccacacgCgcacgtgcatcaccgcgggc	13	19	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:88329829C>T	uc001vln.2	+	2	2405	c.2186C>T	c.(2185-2187)GCG>GTG	p.A729V	SLITRK5_uc010tic.1_Missense_Mutation_p.A488V	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	729	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACCCACACGCGCACGTGCAT	0.657													T	88329829	C	T	88329829	3	4	209	1	0	0	0	0	1	0	0	0	14746	768	27	1	2188	1	SLITRK5	13	88329829	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	50100595	88329829	26840049	121	111876											
IPO5	3843	broad.mit.edu	37	chr13	98654779	98654779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccattggtgaagggtgCcaccagcaaatggaaggaat	13	8	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:98654779C>T	uc001vnf.1	+	11	1232	c.1167C>T	c.(1165-1167)TGC>TGT	p.C389C	IPO5_uc001vne.2_Silent_p.C407C|IPO5_uc010tik.1_Silent_p.C264C|IPO5_uc010til.1_Silent_p.C329C|IPO5_uc001vng.1_Silent_p.C10C	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	389					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			ovary(1)|lung(1)|skin(1)	3						GTGAAGGGTGCCACCAGCAAA	0.373													T	98654779	C	T	98654779	2	4	209	1	0	0	0	0	0	0	0	1	7796	747	26	2		2	IPO5	13	98654779	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	10324950	98654779	16515099	122	111877											
NALCN	259232	broad.mit.edu	37	chr13	102030937	102030937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgtagcaccaaagaaAcccaaaggcaaaagaccata	6	11	0	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:102030937A>G	uc001vox.1	-	4	548	c.359T>C	c.(358-360)GTT>GCT	p.V120A	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.V120A|NALCN_uc001vpa.2_Missense_Mutation_p.V120A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	120	Helical; Name=S3 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CACCAAAGAAACCCAAAGGCA	0.308													G	102030937	A	G	102030937	3	3	209	1	0	0	0	0	1	0	0	0	10148	43	2	3	5021	3	NALCN	13	102030937	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	3376158	102030937	13138941	123	111878											
SOX1	6656	broad.mit.edu	37	chr13	112722355	112722355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgccgcaagaccaagaCgctgctcaagaaggacaagt	12	13	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr13:112722355C>T	uc001vsb.1	+	1	443	c.383C>T	c.(382-384)ACG>ATG	p.T128M		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	128					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	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)		AAGACCAAGACGCTGCTCAAG	0.507													T	112722355	C	T	112722355	3	4	209	1	0	0	0	0	1	0	0	0	14940	536	19	1	385	1	SOX1	13	112722355	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	10691418	112722355	2447523	124	111879											
TRIM9	114088	broad.mit.edu	37	chr14	51561231	51561231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgattcttggggaagccgcGgagcccccggtcatccagga	15	13	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr14:51561231G>A	uc001wyx.3	-	1	1192	c.427C>T	c.(427-429)CGC>TGC	p.R143C	TRIM9_uc001wyy.2_Missense_Mutation_p.R143C|TRIM9_uc001wyz.3_Missense_Mutation_p.R143C	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	143					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GGGAAGCCGCGGAGCCCCCGG	0.662													A	51561231	G	A	51561231	3	1	209	1	0	0	0	0	1	0	0	0	16546	1116	39	1	1795	1	TRIM9	14	51561231	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		51561231	55788309	125	111880											
TMX1	81542	broad.mit.edu	37	chr14	51721136	51721136	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggatgaagaagatgtttcaGaagaagaagctgaaagtaaa	12	3	1	7			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr14:51721136G>A	uc001wza.3	+	8	867	c.742G>A	c.(742-744)GAA>AAA	p.E248K	TMX1_uc010aoa.2_Missense_Mutation_p.E164K	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	thioredoxin domain containing 1 precursor	248	Cytoplasmic (Potential).				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity				0						AGATGTTTCAGAAGAAGAAGC	0.383													A	51721136	G	A	51721136	3	1	209	1	0	0	0	0	1	0	0	0	16263	943	33	4	772	4	TMX1	14	51721136	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	159905	51721136	55628404	126	111881											
FBXO34	55030	broad.mit.edu	37	chr14	55818684	55818684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatctgaggaaaaaagtGggtctgctgagccatttgta	13	6	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr14:55818684G>T	uc001xbu.2	+	2	1821	c.1576G>T	c.(1576-1578)GGG>TGG	p.G526W	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.G526W	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	526										ovary(2)|lung(2)|skin(1)	5						GGAAAAAAGTGGGTCTGCTGA	0.493													T	55818684	G	T	55818684	3	4	209	1	0	0	0	0	1	0	0	0	5744	1348	47	5	1578	5	FBXO34	14	55818684	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	4097548	55818684	51530856	127	111882											
KIAA0317	9870	broad.mit.edu	37	chr14	75143434	75143434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtggcacacaattttgGtcttagaaggaaccaccatt	8	8	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr14:75143434G>A	uc001xqb.2	-	6	1008	c.503C>T	c.(502-504)ACC>ATC	p.T168I	KIAA0317_uc010tut.1_Missense_Mutation_p.T7I|KIAA0317_uc001xqc.2_Missense_Mutation_p.T168I	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CACAATTTTGGTCTTAGAAGG	0.323													A	75143434	G	A	75143434	3	1	209	1	0	0	0	0	1	0	0	0	8167	1261	44	4	2028	4	KIAA0317	14	75143434	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	19324750	75143434	32206106	128	111883											
MARK3	4140	broad.mit.edu	37	chr14	103934456	103934456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacaacagtactggccaGtctcctcaccacaaagtgca	6	15	3	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr14:103934456G>A	uc001ymz.3	+	12	1863	c.1197G>A	c.(1195-1197)CAG>CAA	p.Q399Q	MARK3_uc001ymx.3_Silent_p.Q399Q|MARK3_uc001ymw.3_Silent_p.Q399Q|MARK3_uc001yna.3_Silent_p.Q383Q|MARK3_uc001ymy.3_Silent_p.Q320Q|MARK3_uc010awp.2_Silent_p.Q422Q|MARK3_uc010tyb.1_Silent_p.Q194Q	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	399							ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			GTACTGGCCAGTCTCCTCACC	0.448													A	103934456	G	A	103934456	2	1	209	1	0	0	0	0	0	0	0	1	9314	1020	36	4		4	MARK3	14	103934456	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	28791022	103934456	3415084	129	111884											
AHNAK2	113146	broad.mit.edu	37	chr14	105416442	105416442	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgctgggcagagacacctcCacgtcgggggccatcacctc	12	16	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr14:105416442C>G	uc010axc.1	-	7	5466	c.5346G>C	c.(5344-5346)GTG>GTC	p.V1782V	AHNAK2_uc001ypx.2_Silent_p.V1682V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1782						nucleus				ovary(1)	1		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)			GAGACACCTCCACGTCGGGGG	0.657													G	105416442	C	G	105416442	2	3	209	1	0	0	0	0	0	0	0	1	415	581	21	5		5	AHNAK2	14	105416442	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	1481986	105416442	1933098	130	111885											
GANC	2595	broad.mit.edu	37	chr15	42641627	42641627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggccattcattccAatacctccaccagaagcaat	6	12	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:42641627A>G	uc001zpi.2	+	22	2779	c.2465A>G	c.(2464-2466)CAA>CGA	p.Q822R	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	822					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		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)		CATTCATTCCAATACCTCCAC	0.383													G	42641627	A	G	42641627	3	3	209	1	0	0	0	0	1	0	0	0	6234	130	5	3	2551	3	GANC	15	42641627	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08		42641627	59889765	131	111886											
EPB42	2038	broad.mit.edu	37	chr15	43494042	43494042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcctgccatcacttacCtgtagctcctctctctgtga	7	14	3	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:43494042C>T	uc001zra.3	-	12	2213	c.1913G>A	c.(1912-1914)AGA>AAA	p.R638K	EPB42_uc001zqz.3_Missense_Mutation_p.R305K|EPB42_uc010bde.2_Silent_p.Q429Q|EPB42_uc001zrb.3_Missense_Mutation_p.R668K|EPB42_uc010udm.1_Missense_Mutation_p.R560K	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	638					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			ovary(2)	2		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)		CATCACTTACCTGTAGCTCCT	0.542													T	43494042	C	T	43494042	3	4	209	1	0	0	0	0	1	0	0	0	5158	695	24	4	170	4	EPB42	15	43494042	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	852415	43494042	59037350	132	111887											
TP53BP1	7158	broad.mit.edu	37	chr15	43701941	43701941	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaatttccaaaaattcTatattaaaaaaaaaaaccaa	4	5	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:43701941T>C	uc001zrs.2	-	25	5439	c.5291_splice	c.e25-1	p.E1764_splice	TP53BP1_uc010udp.1_Splice_Site_p.E1762_splice|TP53BP1_uc001zrq.3_Splice_Site_p.E1767_splice|TP53BP1_uc001zrr.3_Splice_Site_p.E1769_splice|TP53BP1_uc001zrp.2_Splice_Site_p.E181_splice	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3						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			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		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)		CCAAAAATTCTATATTAAAAA	0.393								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					C	43701941	T	C	43701941	5	2	209	1	0	0	0	0	0	0	1	0	16380	1536	53	3	645	3	TP53BP1	15	43701941	Splice_Site	SNP	T	TCGA-D7-6525-01A-11D-1800-08	207899	43701941	58829451	133	111888											
SEMA6D	80031	broad.mit.edu	37	chr15	48056124	48056124	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggagaaacactggacTtcatttctaaaggctcggct	10	10	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:48056124T>G	uc010bek.2	+	10	1185	c.825T>G	c.(823-825)ACT>ACG	p.T275T	SEMA6D_uc001zvw.2_Silent_p.T275T|SEMA6D_uc001zvx.1_Silent_p.T275T|SEMA6D_uc001zvy.2_Silent_p.T275T|SEMA6D_uc001zvz.2_Silent_p.T275T|SEMA6D_uc001zwa.2_Silent_p.T275T|SEMA6D_uc001zwb.2_Silent_p.T275T|SEMA6D_uc001zwc.2_Silent_p.T275T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	275	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		AACACTGGACTTCATTTCTAA	0.473													G	48056124	T	G	48056124	2	3	209	1	0	0	0	0	0	0	0	1	14042	1596	56	5		5	SEMA6D	15	48056124	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	4354183	48056124	54475268	134	111889											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651800	84651800	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacacatgcagtggcggggCatccaggaagagacacctcc	12	13	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:84651800C>A	uc002bjz.3	+	21	3644	c.3420C>A	c.(3418-3420)GGC>GGA	p.G1140G	ADAMTSL3_uc010bmt.1_Silent_p.G1140G|ADAMTSL3_uc010bmu.1_Silent_p.G1140G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1140						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTGGCGGGGCATCCAGGAAG	0.552													A	84651800	C	A	84651800	2	1	209	1	0	0	0	0	0	0	0	1	276	697	25	5		5	ADAMTSL3	15	84651800	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	36595676	84651800	17879592	135	111890											
RLBP1	6017	broad.mit.edu	37	chr15	89760498	89760498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctgcaccatctcctGcagctctcgcactgcctcct	7	20	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:89760498G>T	uc002bnl.2	-	5	579	c.199C>A	c.(199-201)CAG>AAG	p.Q67K		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	67					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	ACCATCTCCTGCAGCTCTCGC	0.632													T	89760498	G	T	89760498	3	4	209	1	0	0	0	0	1	0	0	0	13388	1328	46	5	774	5	RLBP1	15	89760498	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	5108698	89760498	12770894	136	111891											
IQGAP1	8826	broad.mit.edu	37	chr15	91035841	91035841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagtgaaactgcaacagaCatacgctgctctgaactcta	7	11	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:91035841C>T	uc002bpl.1	+	35	4627	c.4526C>T	c.(4525-4527)ACA>ATA	p.T1509I	IQGAP1_uc010uqg.1_Missense_Mutation_p.T130I	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1509	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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			CTGCAACAGACATACGCTGCT	0.433													T	91035841	C	T	91035841	3	4	209	1	0	0	0	0	1	0	0	0	7814	478	17	4	4664	4	IQGAP1	15	91035841	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	1275343	91035841	11495551	137	111892											
CHD2	1106	broad.mit.edu	37	chr15	93467679	93467679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaatcttctgagagtcagtCggaatctgagagcgaatcag	12	7	5	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr15:93467679C>T	uc002bsp.2	+	3	766	c.191C>T	c.(190-192)TCG>TTG	p.S64L	CHD2_uc002bsm.1_Missense_Mutation_p.S64L|CHD2_uc002bsn.2_Missense_Mutation_p.S64L|CHD2_uc002bso.1_Missense_Mutation_p.S64L|CHD2_uc010urb.1_Missense_Mutation_p.S77L	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	64	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGAGTCAGTCGGAATCTGAG	0.527													T	93467679	C	T	93467679	3	4	209	1	0	0	0	0	1	0	0	0	3325	893	31	1	197	1	CHD2	15	93467679	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	2431838	93467679	9063713	138	111893											
RHOT2	89941	broad.mit.edu	37	chr16	720267	720267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcccatcatcctagtGggcaacaagtcagacctgcg	12	12	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:720267G>A	uc002cip.2	+	7	415	c.348G>A	c.(346-348)GTG>GTA	p.V116V	RHOT2_uc002ciq.2_Silent_p.V9V|RHOT2_uc010bqy.2_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	116	Miro 1.|Mitochondrial intermembrane (Potential).				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			pancreas(1)	1		Hepatocellular(780;0.0218)				TCATCCTAGTGGGCAACAAGT	0.637													A	720267	G	A	720267	2	1	209	1	0	0	0	0	0	0	0	1	13344	1335	47	4		4	RHOT2	16	720267	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08		720267	89634486	139	111894											
A2BP1	54715	broad.mit.edu	37	chr16	7703860	7703860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgccgcggccgcctaCcgaggggcgcacctgcgagg	16	18	0	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:7703860C>T	uc002cys.2	+	12	1789	c.801C>T	c.(799-801)TAC>TAT	p.Y267Y	A2BP1_uc010buf.1_Silent_p.Y267Y|A2BP1_uc002cyr.1_Silent_p.Y266Y|A2BP1_uc002cyt.2_Silent_p.Y240Y|A2BP1_uc010uxz.1_Silent_p.Y310Y|A2BP1_uc010uya.1_Silent_p.Y224Y|A2BP1_uc002cyv.1_Silent_p.Y267Y|A2BP1_uc010uyb.1_Silent_p.Y267Y|A2BP1_uc002cyw.2_Silent_p.Y287Y|A2BP1_uc002cyy.2_Silent_p.Y287Y|A2BP1_uc002cyx.2_Silent_p.Y287Y|A2BP1_uc010uyc.1_Silent_p.Y260Y	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	267					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CGGCCGCCTACCGAGGGGCGC	0.602													T	7703860	C	T	7703860	2	4	209	1	0	0	0	0	0	0	0	1	3	518	18	4		4	A2BP1	16	7703860	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	6983593	7703860	82650893	140	111895											
XYLT1	64131	broad.mit.edu	37	chr16	17352902	17352902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagccctaacttgtggcGgcagtaagtctccccaatct	9	14	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:17352902G>A	uc002dfa.2	-	3	941	c.856C>T	c.(856-858)CGC>TGC	p.R286C		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	286	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						AACTTGTGGCGGCAGTAAGTC	0.607													A	17352902	G	A	17352902	3	1	209	1	0	0	0	0	1	0	0	0	17460	1116	39	1	2063	1	XYLT1	16	17352902	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	9649042	17352902	73001851	141	111896											
VWA3A	146177	broad.mit.edu	37	chr16	22130291	22130291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagagcctcctcagccaCgtgcaagccctgcagcacag	10	18	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:22130291C>T	uc010vbq.1	+	12	1155	c.1059C>T	c.(1057-1059)CAC>CAT	p.H353H	VWA3A_uc010bxd.2_5'Flank|VWA3A_uc010bxc.2_Silent_p.H340H	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	353	Potential.					extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		TCCTCAGCCACGTGCAAGCCC	0.612													T	22130291	C	T	22130291	2	4	209	1	0	0	0	0	0	0	0	1	17237	535	19	1		1	VWA3A	16	22130291	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	4777389	22130291	68224462	142	111897											
SLC5A2	6524	broad.mit.edu	37	chr16	31500028	31500028	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagcagcagcacgctcttCaccatggacatctacacgcg	8	15	3	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:31500028C>T	uc002ecf.3	+	10	1234	c.1215C>T	c.(1213-1215)TTC>TTT	p.F405F	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	405	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						GCACGCTCTTCACCATGGACA	0.697													T	31500028	C	T	31500028	2	4	209	1	0	0	0	0	0	0	0	1	14665	825	29	4		4	SLC5A2	16	31500028	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	9369737	31500028	58854725	143	111898											
CES1	1066	broad.mit.edu	37	chr16	55857581	55857581	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accatcagcccccctccgtgGatccacaccatcacctgggc	7	20	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:55857581G>T	uc002eim.2	-	4	525	c.417C>A	c.(415-417)ATC>ATA	p.I139I	CES1_uc002eil.2_Silent_p.I140I|CES1_uc002ein.2_Silent_p.I139I	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	139					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCCCTCCGTGGATCCACACCA	0.557													T	55857581	G	T	55857581	2	4	209	1	0	0	0	0	0	0	0	1	3269	1164	41	5		5	CES1	16	55857581	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	24357553	55857581	34497172	144	111899											
KCTD19	146212	broad.mit.edu	37	chr16	67325601	67325601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgaggttgtccatctcCgtggtatagatgatgctgtc	12	9	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:67325601C>T	uc002esu.2	-	13	2409	c.2358G>A	c.(2356-2358)ACG>ACA	p.T786T	KCTD19_uc002est.2_Silent_p.T558T|KCTD19_uc010vjj.1_Silent_p.T529T	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	786						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGTCCATCTCCGTGGTATAGA	0.607													T	67325601	C	T	67325601	2	4	209	1	0	0	0	0	0	0	0	1	8106	639	23	1		1	KCTD19	16	67325601	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	11468020	67325601	23029152	145	111900											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451107	87451107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagacggggtaatacttgtGcaaacgcagtttcctaagcc	10	9	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr16:87451107G>A	uc002fjz.1	-	8	958	c.931C>T	c.(931-933)CAC>TAC	p.H311Y	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.H87Y	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	311					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TAATACTTGTGCAAACGCAGT	0.507											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	87451107	G	A	87451107	3	1	209	1	0	0	0	0	1	0	0	0	17580	1319	46	2	1942	2	ZCCHC14	16	87451107	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	20125506	87451107	2903646	146	111901											
NXN	64359	broad.mit.edu	37	chr17	729219	729219	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accttctgggtcatctcggaTcaccagcagcccgttcctgc	9	16	4	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr17:729219T>A	uc002fsa.2	-	2	552	c.460A>T	c.(460-462)ATC>TTC	p.I154F	NXN_uc002fsb.1_Missense_Mutation_p.I41F|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.I46F	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	154					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCATCTCGGATCACCAGCAGC	0.522													A	729219	T	A	729219	3	1	209	1	0	0	0	0	1	0	0	0	10787	1435	50	5	875	5	NXN	17	729219	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08		729219	80465991	147	111902											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(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.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578212	G	A	7578212	4	1	209	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	6848993	7578212	73616998	148	111903											
EFNB3	1949	broad.mit.edu	37	chr17	7611546	7611546	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggccacgagttccgctcGcaccacgattactacatcat	9	14	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr17:7611546G>T	uc002gis.2	+	2	790	c.393G>T	c.(391-393)TCG>TCT	p.S131S		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	131	Extracellular (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				AGTTCCGCTCGCACCACGATT	0.572													T	7611546	G	T	7611546	2	4	209	1	0	0	0	0	0	0	0	1	4957	1074	38	5		5	EFNB3	17	7611546	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	33334	7611546	73583664	149	111904											
TAF15	8148	broad.mit.edu	37	chr17	34160922	34160922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcagtggtggtgaccGcggtggcttcaaaaattttg	13	9	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr17:34160922G>A	uc002hkd.2	+	8	703	c.617G>A	c.(616-618)CGC>CAC	p.R206H	TAF15_uc010ctw.1_Intron|TAF15_uc002hkc.2_Missense_Mutation_p.R203H	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	206	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTGGTGACCGCGGTGGCTTC	0.413			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								A	34160922	G	A	34160922	3	1	209	1	0	0	0	0	1	0	0	0	15515	1087	38	1	647	1	TAF15	17	34160922	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	26549376	34160922	47034288	150	111905											
KRT35	3886	broad.mit.edu	37	chr17	39633390	39633390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaggaccgcaggaggccGcaggaagacagggaaggcat	16	10	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr17:39633390G>A	uc002hws.2	-	7	1329	c.1286C>T	c.(1285-1287)GCG>GTG	p.A429V		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	429	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				GCAGGAGGCCGCAGGAAGACA	0.572													A	39633390	G	A	39633390	3	1	209	1	0	0	0	0	1	0	0	0	8472	1087	38	1	85	1	KRT35	17	39633390	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	5472468	39633390	41561820	151	111906											
DUS1L	64118	broad.mit.edu	37	chr17	80017925	80017925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcttcctccagggccCgcttgctgcgcgcacctgcc	9	21	1	0	rs138475537		TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr17:80017925C>T	uc002kdq.2	-	10	1486	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	DUS1L_uc002kdp.2_Missense_Mutation_p.R225Q|DUS1L_uc002kdr.2_Missense_Mutation_p.R356Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	356					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	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)			CTCCAGGGCCCGCTTGCTGCG	0.652													T	80017925	C	T	80017925	3	4	209	1	0	0	0	0	1	0	0	0	4805	652	23	1	370	1	DUS1L	17	80017925	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	40384535	80017925	1177285	152	111907											
FASN	2194	broad.mit.edu	37	chr17	80039961	80039961	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccgtagttgctctgtccCgcattgccacgcccgcagct	10	16	1	0	rs146309529		TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr17:80039961C>A	uc002kdu.2	-	36	6204	c.6087G>T	c.(6085-6087)GCG>GCT	p.A2029A	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2029	Beta-ketoacyl 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(1)	1	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)	TGCTCTGTCCCGCATTGCCAC	0.567													A	80039961	C	A	80039961	2	1	209	1	0	0	0	0	0	0	0	1	5683	639	23	5		5	FASN	17	80039961	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	22036	80039961	1155249	153	111908											
L3MBTL4	91133	broad.mit.edu	37	chr18	6239858	6239858	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccaacctgaaattctttaGacattggcccattctaacgc	5	12	2	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr18:6239858G>T	uc002kmz.3	-	9	726	c.566C>A	c.(565-567)TCT>TAT	p.S189Y	L3MBTL4_uc010dkt.2_Missense_Mutation_p.S189Y|L3MBTL4_uc002kmy.3_Missense_Mutation_p.S27Y	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	189	MBT 2.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				AAATTCTTTAGACATTGGCCC	0.468													T	6239858	G	T	6239858	3	4	209	1	0	0	0	0	1	0	0	0	8594	942	33	5	1353	5	L3MBTL4	18	6239858	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		6239858	71837390	154	111909											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859866	6859866	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcatcccaggataaagaaggGagttttgcggttcccaggag	14	8	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr18:6859866G>C	uc010wzi.1	+	4	403	c.165G>C	c.(163-165)GGG>GGC	p.G55G	ARHGAP28_uc002knc.2_Silent_p.G180G|ARHGAP28_uc002knd.2_Silent_p.G73G|ARHGAP28_uc002kne.2_Silent_p.G73G|ARHGAP28_uc002knf.2_Silent_p.G64G			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	55					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				ATAAAGAAGGGAGTTTTGCGG	0.433													C	6859866	G	C	6859866	2	2	209	1	0	0	0	0	0	0	0	1	877	1161	41	5		5	ARHGAP28	18	6859866	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	620008	6859866	71217382	155	111910											
CTAGE1	64693	broad.mit.edu	37	chr18	19997725	19997725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatccagcaacagctgcaCgtatcaccaattcccatgga	6	13	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr18:19997725C>T	uc002ktv.1	-	1	154	c.50G>A	c.(49-51)CGT>CAT	p.R17H		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	17	Helical; (Potential).					integral to membrane				ovary(1)	1	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)					AACAGCTGCACGTATCACCAA	0.468													T	19997725	C	T	19997725	3	4	209	1	0	0	0	0	1	0	0	0	3992	536	19	1	2191	1	CTAGE1	18	19997725	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	13137859	19997725	58079523	156	111911											
ZNF521	25925	broad.mit.edu	37	chr18	22806953	22806955	+	In_Frame_Del	DEL	TTC	TTC	-													cagaacaaatgctgcatgagTtcttcttctccccgctatgc							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr18:22806952_22806954GTTC>G	uc002kvk.2	-	3	1175_1177	c.928_930GAAC>C	c.(928-930)aac>C	p.N310del	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_In_Frame_Del_p.N310del|ZNF521_uc002kvl.2_In_Frame_Del_p.N90del	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	310					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)					TGCTGCATGAGTTCTTCTTCTCC	0.547			T	PAX5	ALL								-	22806955	TTC	-	22806953	7	5	209	1	0	1	0	1	0	0	0	0	17962	1725	60	0	3026	0	ZNF521	18	22806953	In_Frame_Del	DEL	TTC	TCGA-D7-6525-01A-11D-1800-08	2809228	22806953	55270295	157	111912											
DCC	1630	broad.mit.edu	37	chr18	51053126	51053126	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaccaacagaggattcagcCaatgtaagggcatctttaaa	8	8	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr18:51053126C>A	uc002lfe.1	+	28	4838	c.4251C>A	c.(4249-4251)GCC>GCA	p.A1417A	DCC_uc010dpf.1_Silent_p.A1050A	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1417	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGATTCAGCCAATGTAAGGG	0.478													A	51053126	C	A	51053126	2	1	209	1	0	0	0	0	0	0	0	1	4282	581	21	5		5	DCC	18	51053126	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	28246173	51053126	27024122	158	111913											
MED16	10025	broad.mit.edu	37	chr19	872114	872114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggcccggcctcagcaggGaaccctgcccgaaagaggca	14	14	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:872114G>A	uc002lqd.1	-	12	2061	c.1910C>T	c.(1909-1911)TCC>TTC	p.S637F	MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Missense_Mutation_p.S626F|MED16_uc002lqf.2_Missense_Mutation_p.S626F	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	637	WD 4.				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				0		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)		CCTCAGCAGGGAACCCTGCCC	0.627													A	872114	G	A	872114	3	1	209	1	0	0	0	0	1	0	0	0	9434	1174	41	4	743	4	MED16	19	872114	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08		872114	58256869	159	111914											
MUC16	94025	broad.mit.edu	37	chr19	9066275	9066275	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagtcaaagttgaatgagtCtttgcctgggactttgtggt	13	5	2	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:9066275C>A	uc002mkp.2	-	3	21375	c.21171G>T	c.(21169-21171)AAG>AAT	p.K7057N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7059	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGAATGAGTCTTTGCCTGGG	0.493													A	9066275	C	A	9066275	3	1	209	1	0	0	0	0	1	0	0	0	9973	912	32	5	22680	5	MUC16	19	9066275	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	8194161	9066275	50062708	160	111915											
ZNF177	7730	broad.mit.edu	37	chr19	9489708	9489708	+	Frame_Shift_Del	DEL	A	A	-													ggcattgctggaccctgctcAaaaaaatctatacaaagatg							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:9489708delA	uc002mli.2	+	9	767	c.104delA	c.(103-105)CAAfs	p.Q35fs	ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Frame_Shift_Del_p.Q35fs	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	35	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GACCCTGCTCAAAAAAATCTA	0.413													-	9489708	A	-	9489708	7	5	209	1	0	1	0	1	0	0	0	0	17743	130	5	0	110	0	ZNF177	19	9489708	Frame_Shift_Del	DEL	A	TCGA-D7-6525-01A-11D-1800-08	423433	9489708	49639275	161	111916											
ZNF439	90594	broad.mit.edu	37	chr19	11978219	11978219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctgaacttccagaagaAgaaagcttctcctgaagtaa	9	9	1	5			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:11978219A>C	uc002mss.2	+	3	463	c.335A>C	c.(334-336)AAG>ACG	p.K112T	ZNF439_uc002msr.2_5'UTR	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTCCAGAAGAAGAAAGCTTCT	0.413													C	11978219	A	C	11978219	3	2	209	1	0	0	0	0	1	0	0	0	17908	72	3	5	345	5	ZNF439	19	11978219	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	2488511	11978219	47150764	162	111917											
PVRL2	5819	broad.mit.edu	37	chr19	45368587	45368587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccagctcgggggcaccGtggagctgccgtgccacctg	17	14	0	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:45368587G>A	uc002ozw.1	+	2	538	c.148G>A	c.(148-150)GTG>ATG	p.V50M	PVRL2_uc002ozv.2_Missense_Mutation_p.V50M	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	50	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|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|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CGGGGGCACCGTGGAGCTGCC	0.642													A	45368587	G	A	45368587	3	1	209	1	0	0	0	0	1	0	0	0	12840	1145	40	1	154	1	PVRL2	19	45368587	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	33390368	45368587	13760396	163	111918											
ZNF347	84671	broad.mit.edu	37	chr19	53645699	53645699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttccctgaaggaacatcCttcaatgtcttggctttcct	7	12	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:53645699C>T	uc002qbb.1	-	5	451	c.382G>A	c.(382-384)GGA>AGA	p.G128R	ZNF347_uc010eql.1_Missense_Mutation_p.G129R|ZNF347_uc002qbc.1_Missense_Mutation_p.G129R	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AAGGAACATCCTTCAATGTCT	0.398													T	53645699	C	T	53645699	3	4	209	1	0	0	0	0	1	0	0	0	17858	690	24	4	2141	4	ZNF347	19	53645699	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	8277112	53645699	5483284	164	111919											
LILRA1	11024	broad.mit.edu	37	chr19	55107789	55107790	+	Frame_Shift_Ins	INS	-	-	C													aaggcgggagcagctgatgcINSccccctccgtctcagatcaa							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:55107788_55107789G>GC	uc002qgh.1	+	6	1275_1276	c.1093_1094G>GC	c.(1093-1095)gccfs	p.A365fs	LILRA1_uc010yfg.1_Frame_Shift_Ins_p.A363fs|LILRA1_uc010yfh.2_Frame_Shift_Ins_p.A365fs	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	365	Ig-like C2-type 4.				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)		AGCAGCTGATGCCCCCCTCCGT	0.589													C	55107790	-	C	55107789	7	5	209	1	0	1	1	0	0	0	0	0	8784	739	26	0	1116	0	LILRA1	19	55107789	Frame_Shift_Ins	INS	-	TCGA-D7-6525-01A-11D-1800-08	1462090	55107789	4021194	165	111920											
PTPRH	5794	broad.mit.edu	37	chr19	55693420	55693420	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacggccgactctctctcatCttccttacaaagctgaaggg	8	13	3	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:55693420C>G	uc002qjq.2	-	19	3235	c.3162G>C	c.(3160-3162)AAG>AAC	p.K1054N	PTPRH_uc010esv.2_Missense_Mutation_p.K876N|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1054	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCTCTCATCTTCCTTACAA	0.637													G	55693420	C	G	55693420	3	3	209	1	0	0	0	0	1	0	0	0	12803	912	32	5	193	5	PTPRH	19	55693420	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	585631	55693420	3435563	166	111921											
BRSK1	84446	broad.mit.edu	37	chr19	55823347	55823347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagcccccacccggcCgcccagacccagagctgagc	11	21	0	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:55823347C>T	uc002qkg.2	+	19	2525	c.2248C>T	c.(2248-2250)CGC>TGC	p.R750C	BRSK1_uc002qkf.2_Missense_Mutation_p.R766C|BRSK1_uc002qkh.2_Missense_Mutation_p.R445C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	750					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			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCACCCGGCCGCCCAGACCC	0.701													T	55823347	C	T	55823347	3	4	209	1	0	0	0	0	1	0	0	0	1523	652	23	1	2322	1	BRSK1	19	55823347	Missense_Mutation	SNP	C	TCGA-D7-6525-01A-11D-1800-08	129927	55823347	3305636	167	111922											
NLRP8	126205	broad.mit.edu	37	chr19	56466131	56466131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaagttctacgcccacaAgcgctggtgtgctttctact	8	12	2	0	rs144060853	byFrequency	TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:56466131A>G	uc002qmh.2	+	3	778	c.707A>G	c.(706-708)AAG>AGG	p.K236R	NLRP8_uc010etg.2_Missense_Mutation_p.K236R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	236	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TACGCCCACAAGCGCTGGTGT	0.532													G	56466131	A	G	56466131	3	3	209	1	0	0	0	0	1	0	0	0	10483	72	3	3	717	3	NLRP8	19	56466131	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	642784	56466131	2662852	168	111923											
ZNF470	388566	broad.mit.edu	37	chr19	57088868	57088868	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgctcatccctagctcaTcatcgaaggattcacactgg	8	12	4	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:57088868T>C	uc002qnl.3	+	6	1747	c.1071T>C	c.(1069-1071)CAT>CAC	p.H357H	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	357	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CCCTAGCTCATCATCGAAGGA	0.438													C	57088868	T	C	57088868	2	2	209	1	0	0	0	0	0	0	0	1	17926	1432	50	3		3	ZNF470	19	57088868	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	622737	57088868	2040115	169	111924											
PEG3	5178	broad.mit.edu	37	chr19	57335788	57335788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcctccttggtgcggGtctccggctgcaaccaatcg	11	14	2	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr19:57335788G>T	uc002qnu.2	-	1	587	c.236C>A	c.(235-237)ACC>AAC	p.T79N	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.T79N|PEG3_uc002qnv.2_Missense_Mutation_p.T79N|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.T79N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	79	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTGGTGCGGGTCTCCGGCTG	0.532													T	57335788	G	T	57335788	3	4	209	1	0	0	0	0	1	0	0	0	11720	1261	44	5		5	PEG3	19	57335788	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	246920	57335788	1793195	170	111925											
NOP56	10528	broad.mit.edu	37	chr20	2638596	2638598	+	In_Frame_Del	DEL	AAG	AAG	-													agatgagtgaaaaacccaaaAagaagaaaaagcaaaagccc							TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr20:2638596_2638598delAAG	uc002wgh.2	+	12	1494_1496	c.1441_1443delAAG	c.(1441-1443)AAGdel	p.K484del	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_In_Frame_Del_p.K318del|NOP56_uc002wgm.1_3'UTR	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	484	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						AAAACCCAAAAAGAAGAAAAAGC	0.443													-	2638598	AAG	-	2638596	7	5	209	1	0	1	0	1	0	0	0	0	10539	15	1	0	1487	0	NOP56	20	2638596	In_Frame_Del	DEL	AAG	TCGA-D7-6525-01A-11D-1800-08		2638596	60386924	171	111926											
PCNA	5111	broad.mit.edu	37	chr20	5099508	5099508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcattttagtattttggAcatactagaagacaggagac	11	6	0	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr20:5099508A>G	uc002wlp.2	-	2	429	c.226T>C	c.(226-228)TCC>CCC	p.S76P	PCNA_uc002wlq.2_Missense_Mutation_p.S76P|PCNA_uc010zqs.1_Missense_Mutation_p.S76P	NM_182649	NP_872590	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	76	Potential.|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			lung(1)	1						AGTATTTTGGACATACTAGAA	0.458								DNA_polymerases_(catalytic_subunits)					G	5099508	A	G	5099508	3	3	209	1	0	0	0	0	1	0	0	0	11588	275	10	3	579	3	PCNA	20	5099508	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	2460912	5099508	57926012	172	111927											
PAX1	5075	broad.mit.edu	37	chr20	21687213	21687213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcagtcggcagctccgcGtatcccacggctgcgtgagc	12	15	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr20:21687213G>A	uc002wsj.2	+	2	478	c.424G>A	c.(424-426)GTA>ATA	p.V142I	PAX1_uc010zsl.1_Missense_Mutation_p.V142I|PAX1_uc010zsm.1_Missense_Mutation_p.V118I	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	142	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GCAGCTCCGCGTATCCCACGG	0.682													A	21687213	G	A	21687213	3	1	209	1	0	0	0	0	1	0	0	0	11478	1145	40	1	430	1	PAX1	20	21687213	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	16587705	21687213	41338307	173	111928											
SDC4	6385	broad.mit.edu	37	chr20	43964515	43964515	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggctccggagaagtatcGgccttctaggaggtcctggg	16	9	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr20:43964515G>A	uc002xnu.2	-	2	146	c.106C>T	c.(106-108)CGA>TGA	p.R36*	SDC4_uc010zws.1_Intron	NM_002999	NP_002990	P31431	SDC4_HUMAN	syndecan 4 precursor	36	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity				0		Myeloproliferative disorder(115;0.0122)				GAGAAGTATCGGCCTTCTAGG	0.552													A	43964515	G	A	43964515	4	1	209	1	0	0	0	0	0	1	0	0	13954	1124	39	1	506	1	SDC4	20	43964515	Nonsense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	22277302	43964515	19061005	174	111929											
LIPI	149998	broad.mit.edu	37	chr21	15538737	15538737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcctccatttggataaaAatctatatgtcccaagggct	6	9	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr21:15538737A>C	uc002yjm.2	-	5	752	c.742T>G	c.(742-744)TTT>GTT	p.F248V	LIPI_uc010gkw.1_Intron	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	227					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTGGATAAAAATCTATATGT	0.348													C	15538737	A	C	15538737	3	2	209	1	0	0	0	0	1	0	0	0	8825	14	1	5	727	5	LIPI	21	15538737	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08		15538737	32591158	175	111930											
TMPRSS15	5651	broad.mit.edu	37	chr21	19725236	19725236	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctgaagcattgccaaaAgtgtggtcaaaattgggtcc	10	8	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr21:19725236A>G	uc002ykw.2	-	10	1186	c.1155T>C	c.(1153-1155)ACT>ACC	p.T385T		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	385	Extracellular (Potential).|MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CATTGCCAAAAGTGTGGTCAA	0.358													G	19725236	A	G	19725236	2	3	209	1	0	0	0	0	0	0	0	1	16243	59	3	3		3	TMPRSS15	21	19725236	Silent	SNP	A	TCGA-D7-6525-01A-11D-1800-08	4186499	19725236	28404659	176	111931											
C21orf58	54058	broad.mit.edu	37	chr21	47731399	47731399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttcctgaccgttgagtaGggaaggcctggggaggagga	17	7	0	2	rs13049404	byFrequency	TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr21:47731399G>T	uc002zjf.2	-	7	1826	c.692C>A	c.(691-693)CCT>CAT	p.P231H	C21orf58_uc002ziz.2_Missense_Mutation_p.P148H|C21orf58_uc002zja.2_Missense_Mutation_p.P125H|C21orf58_uc011afw.1_Missense_Mutation_p.P148H|C21orf58_uc002zjc.2_Missense_Mutation_p.P125H|C21orf58_uc011afx.1_Missense_Mutation_p.P125H|C21orf58_uc010gqj.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	231										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		CCGTTGAGTAGGGAAGGCCTG	0.498													T	47731399	G	T	47731399	3	4	209	1	0	0	0	0	1	0	0	0	2129	1000	35	5	288	5	C21orf58	21	47731399	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	28006163	47731399	398496	177	111932											
YPEL1	29799	broad.mit.edu	37	chr22	22057704	22057704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttctcgcagtagatgtcGgcaaccgcatgcagcccggt	12	13	1	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr22:22057704G>A	uc002zvl.2	-	4	557	c.225C>T	c.(223-225)GCC>GCT	p.A75A	YPEL1_uc002zvm.2_RNA	NM_013313	NP_037445	O60688	YPEL1_HUMAN	yippee-like 1	75						nucleus					0	Colorectal(54;0.105)					AGTAGATGTCGGCAACCGCAT	0.642													A	22057704	G	A	22057704	2	1	209	1	0	0	0	0	0	0	0	1	17486	1103	39	1		1	YPEL1	22	22057704	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08		22057704	29246862	178	111933											
SNRPD3	6634	broad.mit.edu	37	chr22	24953726	24953726	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaacaccggtgaggtataTcgggggaagctcattgaagc	14	8	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr22:24953726T>C	uc003aam.1	+	2	524	c.84T>C	c.(82-84)TAT>TAC	p.Y28Y	C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Silent_p.Y28Y	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	28					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						GTGAGGTATATCGGGGGAAGC	0.512													C	24953726	T	C	24953726	2	2	209	1	0	0	0	0	0	0	0	1	14866	1442	50	3		3	SNRPD3	22	24953726	Silent	SNP	T	TCGA-D7-6525-01A-11D-1800-08	2896022	24953726	26350840	179	111934											
MYH9	4627	broad.mit.edu	37	chr22	36690198	36690198	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgctctccctcgttgaacttGacctgcagctcctgcagctg	9	16	1	2			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chr22:36690198G>T	uc003apg.2	-	28	4008	c.3777C>A	c.(3775-3777)GTC>GTA	p.V1259V		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1259	Potential.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CGTTGAACTTGACCTGCAGCT	0.672			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36690198	G	T	36690198	2	4	209	1	0	0	0	0	0	0	0	1	10042	1277	45	5		5	MYH9	22	36690198	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	11736472	36690198	14614368	180	111935											
TRO	7216	broad.mit.edu	37	chrX	54956444	54956444	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgcaccaatcaccaAccctggctttggcggtgcat	11	13	1	0			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chrX:54956444A>T	uc004dtq.2	+	12	3394	c.3287A>T	c.(3286-3288)AAC>ATC	p.N1096I	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.N627I|TRO_uc004dtw.2_Missense_Mutation_p.N699I|TRO_uc004dtx.2_Missense_Mutation_p.N479I	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1096	29.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CCAATCACCAACCCTGGCTTT	0.572													T	54956444	A	T	54956444	3	4	209	1	0	0	0	0	1	0	0	0	16571	43	2	5	3329	5	TRO	23	54956444	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08		54956444	100314116	181	111936											
MSN	4478	broad.mit.edu	37	chrX	64949468	64949468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttactgcccgcctgagAccgctgtgctgctggcctcg	11	14	0	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chrX:64949468A>G	uc004dwf.2	+	4	559	c.361A>G	c.(361-363)ACC>GCC	p.T121A		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	121	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						CCCGCCTGAGACCGCTGTGCT	0.512			T	ALK	ALCL								G	64949468	A	G	64949468	3	3	209	1	0	0	0	0	1	0	0	0	9885	275	10	3	375	3	MSN	23	64949468	Missense_Mutation	SNP	A	TCGA-D7-6525-01A-11D-1800-08	9993024	64949468	90321092	182	111937											
PCDH11X	27328	broad.mit.edu	37	chrX	91133636	91133636	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagtgaccccaaatactgaGatagctgatgtatcctcacc	7	13	1	3			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chrX:91133636G>A	uc004efk.1	+	2	3242	c.2397G>A	c.(2395-2397)GAG>GAA	p.E799E	PCDH11X_uc004efl.1_Silent_p.E799E|PCDH11X_uc004efo.1_Silent_p.E799E|PCDH11X_uc010nmv.1_Silent_p.E799E|PCDH11X_uc004efm.1_Silent_p.E799E|PCDH11X_uc004efn.1_Silent_p.E799E|PCDH11X_uc004efh.1_Silent_p.E799E|PCDH11X_uc004efj.1_Silent_p.E799E	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	799	Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAAATACTGAGATAGCTGATG	0.443													A	91133636	G	A	91133636	2	1	209	1	0	0	0	0	0	0	0	1	11508	933	33	4		4	PCDH11X	23	91133636	Silent	SNP	G	TCGA-D7-6525-01A-11D-1800-08	26184168	91133636	64136924	183	111938											
ATP11C	286410	broad.mit.edu	37	chrX	138856961	138856961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actttcttcaatggtttttgTggttagttctaagagctcag	9	6	4	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chrX:138856961T>G	uc004faz.2	-	19	2212	c.2113A>C	c.(2113-2115)ACA>CCA	p.T705P	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.T705P	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	705	Cytoplasmic (Potential).				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			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					ATGGTTTTTGTGGTTAGTTCT	0.413													G	138856961	T	G	138856961	3	3	209	1	0	0	0	0	1	0	0	0	1121	1696	59	5	1396	5	ATP11C	23	138856961	Missense_Mutation	SNP	T	TCGA-D7-6525-01A-11D-1800-08	47723325	138856961	16413599	184	111939											
PRRG3	79057	broad.mit.edu	37	chrX	150869097	150869097	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcactgctgattgtcatcgcCttgttcatcatctggaggtg	11	10	4	1			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chrX:150869097C>G	uc004few.1	+	4	678	c.288C>G	c.(286-288)GCC>GCG	p.A96A		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	96	Helical; (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTCATCGCCTTGTTCATCA	0.597													G	150869097	C	G	150869097	2	3	209	1	0	0	0	0	0	0	0	1	12607	668	24	5		5	PRRG3	23	150869097	Silent	SNP	C	TCGA-D7-6525-01A-11D-1800-08	12012136	150869097	4401463	185	111940											
ATP2B3	492	broad.mit.edu	37	chrX	152813388	152813388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaagaagaaagccaacGcacccaaaaaggagaagtct	12	8	1	4			TCGA-D7-6525-01A-11D-1800-08	TCGA-D7-6525-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1802f450-e90b-4642-9408-cc9736df76b5	3cbf6b07-f408-4018-a236-41c3e280c557	g.chrX:152813388G>A	uc004fht.1	+	7	1180	c.1054G>A	c.(1054-1056)GCA>ACA	p.A352T	ATP2B3_uc004fhs.1_Missense_Mutation_p.A352T	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	352	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAAGCCAACGCACCCAAAAA	0.597													A	152813388	G	A	152813388	3	1	209	1	0	0	0	0	1	0	0	0	1141	1087	38	1	1080	1	ATP2B3	23	152813388	Missense_Mutation	SNP	G	TCGA-D7-6525-01A-11D-1800-08	1944291	152813388	2457172	186	111941											
SLC45A1	50651	broad.mit.edu	37	chr1	8390428	8390428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcatccctgagaggcCgctgcggccgccgagtgaga	16	13	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:8390428C>T	uc001apb.2	+	4	875	c.875C>T	c.(874-876)CCG>CTG	p.P292L	SLC45A1_uc001apc.2_5'UTR	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	292					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	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)		CCTGAGAGGCCGCTGCGGCCG	0.697													T	8390428	C	T	8390428	3	4	210	1	0	0	0	0	1	0	0	0	14640	652	23	1	889	1	SLC45A1	1	8390428	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		8390428	240860193	1	111942											
SLC2A5	6518	broad.mit.edu	37	chr1	9097965	9097965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccactcacctggatgaaCgggaagatcaagcccacggt	11	14	2	2	rs111341866	byFrequency	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:9097965C>T	uc001apo.2	-	11	1585	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	SLC2A5_uc010nzy.1_Silent_p.P372P|SLC2A5_uc010nzz.1_Silent_p.P316P|SLC2A5_uc010oaa.1_Silent_p.P387P|SLC2A5_uc010oab.1_Silent_p.P431P	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	431	Helical; Name=11; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	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)		CCTGGATGAACGGGAAGATCA	0.617													T	9097965	C	T	9097965	2	4	210	1	0	0	0	0	0	0	0	1	14548	523	19	1		1	SLC2A5	1	9097965	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	707537	9097965	240152656	2	111943											
CLSTN1	22883	broad.mit.edu	37	chr1	9790620	9790620	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctgctgccgggttgcgttCtgggggtcgccctgctcccc	15	15	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:9790620C>T	uc001aqh.2	-	19	3651	c.2892G>A	c.(2890-2892)CAG>CAA	p.Q964Q	CLSTN1_uc001aqi.2_Silent_p.Q954Q|CLSTN1_uc010oag.1_Silent_p.Q945Q|CLSTN1_uc001aqf.2_Silent_p.Q228Q	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	964	Cytoplasmic (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTTGCGTTCTGGGGGTCGC	0.607													T	9790620	C	T	9790620	2	4	210	1	0	0	0	0	0	0	0	1	3561	912	32	4		4	CLSTN1	1	9790620	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	692655	9790620	239460001	3	111944											
PAX7	5081	broad.mit.edu	37	chr1	18961684	18961684	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgttcagctgggagatccGggacaggctgctgaaggatg	16	8	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:18961684G>T	uc001bay.2	+	3	999	c.401G>T	c.(400-402)CGG>CTG	p.R134L	PAX7_uc001baz.2_Missense_Mutation_p.R134L|PAX7_uc010oct.1_Missense_Mutation_p.R134L	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	134	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		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)		TGGGAGATCCGGGACAGGCTG	0.597			T	FOXO1A	alveolar rhabdomyosarcoma								T	18961684	G	T	18961684	3	4	210	1	0	0	0	0	1	0	0	0	11484	1116	39	5	411	5	PAX7	1	18961684	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	9171064	18961684	230288937	4	111945											
LUZP1	7798	broad.mit.edu	37	chr1	23417805	23417805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggagggctcaggggcatCccctgaacttggtcctaccc	14	13	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:23417805C>T	uc001bgk.2	-	4	3334	c.2950G>A	c.(2950-2952)GAT>AAT	p.D984N	LUZP1_uc010odv.1_Missense_Mutation_p.D984N|LUZP1_uc001bgl.2_Missense_Mutation_p.D984N|LUZP1_uc001bgm.1_Missense_Mutation_p.D984N	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	984						nucleus					0		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)		TCAGGGGCATCCCCTGAACTT	0.577													T	23417805	C	T	23417805	3	4	210	1	0	0	0	0	1	0	0	0	9086	855	30	4	288	4	LUZP1	1	23417805	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	4456121	23417805	225832816	5	111946											
MYOM3	127294	broad.mit.edu	37	chr1	24416562	24416562	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccgcgtaccttcaaaAgcgtctgtgctgatggtgat	12	10	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:24416562A>T	uc001bin.3	-	13	1642	c.1479T>A	c.(1477-1479)GCT>GCA	p.A493A	MYOM3_uc001bim.3_Silent_p.A150A|MYOM3_uc001bio.2_Silent_p.A493A|MYOM3_uc001bip.1_Silent_p.A150A	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	493										skin(2)|ovary(1)	3		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)		TACCTTCAAAAGCGTCTGTGC	0.552													T	24416562	A	T	24416562	2	4	210	1	0	0	0	0	0	0	0	1	10093	59	3	5		5	MYOM3	1	24416562	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	998757	24416562	224834059	6	111947											
BEND5	79656	broad.mit.edu	37	chr1	49201993	49201993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggcgacgcctgtgacGcttctgtttttcagaacatc	10	10	2	2	rs149855111	by1000genomes	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:49201993G>A	uc001crx.3	-	5	1070	c.1026C>T	c.(1024-1026)AGC>AGT	p.S342S	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.S173S	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	342	BEN.									skin(1)	1						CGCCTGTGACGCTTCTGTTTT	0.468													A	49201993	G	A	49201993	2	1	210	1	0	0	0	0	0	0	0	1	1401	1078	38	1		1	BEND5	1	49201993	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	24785431	49201993	200048628	7	111948											
WDR78	79819	broad.mit.edu	37	chr1	67301455	67301455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactctgataaatacgttcTggccactaaattttaaaaaa	6	7	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:67301455T>C	uc001dcx.2	-	11	1643	c.1587A>G	c.(1585-1587)CCA>CCG	p.P529P	WDR78_uc009waw.2_Silent_p.P275P|WDR78_uc009wax.2_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	529										ovary(2)	2						AAATACGTTCTGGCCACTAAA	0.378													C	67301455	T	C	67301455	2	2	210	1	0	0	0	0	0	0	0	1	17325	1567	55	3		3	WDR78	1	67301455	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	18099462	67301455	181949166	8	111949											
DPYD	1806	broad.mit.edu	37	chr1	97915763	97915763	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggatgattctgggggaaAcatttgtcacaatgtcctga	11	9	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:97915763A>C	uc001drv.2	-	14	1894	c.1757T>G	c.(1756-1758)GTT>GGT	p.V586G		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	586					'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			ovary(3)|skin(3)|breast(2)	8		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)	TCTGGGGGAAACATTTGTCAC	0.418													C	97915763	A	C	97915763	3	2	210	1	0	0	0	0	1	0	0	0	4745	43	2	5	1360	5	DPYD	1	97915763	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	30614308	97915763	151334858	9	111950											
KCNA2	3737	broad.mit.edu	37	chr1	111146041	111146041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatctccatgtaatcagacTtactaatggtagaggcactt	9	8	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:111146041T>G	uc001dzu.2	-	2	1860	c.1364A>C	c.(1363-1365)AAG>ACG	p.K455T	KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.K455T	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	455						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		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)		GTAATCAGACTTACTAATGGT	0.443													G	111146041	T	G	111146041	3	3	210	1	0	0	0	0	1	0	0	0	8003	1609	56	5	139	5	KCNA2	1	111146041	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	13230278	111146041	138104580	10	111951											
KCNA2	3737	broad.mit.edu	37	chr1	111147160	111147160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggcatcaaagctagggCggttccgatcgaaaaagtac	11	8	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:111147160C>T	uc001dzu.2	-	2	741	c.245G>A	c.(244-246)CGC>CAC	p.R82H	KCNA2_uc009wfv.1_Missense_Mutation_p.R82H|KCNA2_uc009wfw.2_Missense_Mutation_p.R82H	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	82						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		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)		AAAGCTAGGGCGGTTCCGATC	0.478													T	111147160	C	T	111147160	3	4	210	1	0	0	0	0	1	0	0	0	8003	768	27	1	1258	1	KCNA2	1	111147160	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1119	111147160	138103461	11	111952											
SYCP1	6847	broad.mit.edu	37	chr1	115428890	115428890	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttactgaatttgaaactactGtctgcagcttggaagaatta	8	6	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:115428890G>C	uc001efr.2	+	14	1359	c.1150G>C	c.(1150-1152)GTC>CTC	p.V384L	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.V384L|SYCP1_uc009wgw.2_Missense_Mutation_p.V384L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	384	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	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)		TGAAACTACTGTCTGCAGCTT	0.284													C	115428890	G	C	115428890	3	2	210	1	0	0	0	0	1	0	0	0	15428	1377	48	5	1200	5	SYCP1	1	115428890	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	4281730	115428890	133821731	12	111953											
PDE4DIP	9659	broad.mit.edu	37	chr1	144921933	144921933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcatcagccagttggcgctCtttctgtcgtaccaccctct	9	15	4	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:144921933C>T	uc001elw.3	-	9	1387	c.1096G>A	c.(1096-1098)GAG>AAG	p.E366K	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E432K|PDE4DIP_uc001emc.1_Missense_Mutation_p.E366K|PDE4DIP_uc001emd.1_Missense_Mutation_p.E366K|PDE4DIP_uc001emb.1_Missense_Mutation_p.E529K|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.E153K	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	366	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTGGCGCTCTTTCTGTCGT	0.483			T	PDGFRB	MPD								T	144921933	C	T	144921933	3	4	210	1	0	0	0	0	1	0	0	0	11643	922	32	4	6098	4	PDE4DIP	1	144921933	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	29493043	144921933	104328688	13	111954											
FLG	2312	broad.mit.edu	37	chr1	152277559	152277559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgattgtctggagcggtctGcagagtgcccgtgaccggct	15	11	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:152277559G>T	uc001ezu.1	-	3	9839	c.9803C>A	c.(9802-9804)GCA>GAA	p.A3268E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3268	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCGGTCTGCAGAGTGCCC	0.577									Ichthyosis				T	152277559	G	T	152277559	3	4	210	1	0	0	0	0	1	0	0	0	5922	1319	46	5	2386	5	FLG	1	152277559	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	7355626	152277559	96973062	14	111955											
FLG	2312	broad.mit.edu	37	chr1	152279828	152279828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgagtttgtctgcttgcacTtctggatcctgagtgcccat	10	11	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:152279828T>C	uc001ezu.1	-	3	7570	c.7534A>G	c.(7534-7536)AGT>GGT	p.S2512G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2512	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.562									Ichthyosis				C	152279828	T	C	152279828	3	2	210	1	0	0	0	0	1	0	0	0	5922	1609	56	3	4655	3	FLG	1	152279828	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	2269	152279828	96970793	15	111956											
FLG	2312	broad.mit.edu	37	chr1	152282729	152282729	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgattgttcctcatttcTtgtttgcctgcttgcacttc	6	12	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:152282729T>G	uc001ezu.1	-	3	4669	c.4633A>C	c.(4633-4635)AGA>CGA	p.R1545R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1545	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCATTTCTTGTTTGCCTG	0.587									Ichthyosis				G	152282729	T	G	152282729	2	3	210	1	0	0	0	0	0	0	0	1	5922	1617	56	5		5	FLG	1	152282729	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	2901	152282729	96967892	16	111957											
GBA	2629	broad.mit.edu	37	chr1	155207192	155207192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgagtaggcggacattGtggtgagtactgttggcgag	17	5	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:155207192G>A	uc001fjh.2	-	7	1089	c.939C>T	c.(937-939)CAC>CAT	p.H313H	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.H200H|GBA_uc010pfx.1_Silent_p.H264H|GBA_uc001fji.2_Silent_p.H313H|GBA_uc001fjj.2_Silent_p.H313H|GBA_uc001fjk.2_Silent_p.H313H|GBA_uc001fjl.2_Silent_p.H313H|GBA_uc010pfy.1_Silent_p.H226H|GBA_uc009wqk.1_Silent_p.H226H	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	313					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			ovary(1)|skin(1)	2	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)	GGCGGACATTGTGGTGAGTAC	0.572									Gaucher_disease_type_I				A	155207192	G	A	155207192	2	1	210	1	0	0	0	0	0	0	0	1	6266	1368	48	4		4	GBA	1	155207192	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	2924463	155207192	94043429	17	111958											
GPATCH4	54865	broad.mit.edu	37	chr1	156568060	156568060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggccgcagtcttgttgaAgagctcattccaccagtggt	12	10	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:156568060A>C	uc001fpm.2	-	4	259	c.220T>G	c.(220-222)TTC>GTC	p.F74V	GPATCH4_uc001fpl.2_Missense_Mutation_p.F69V	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	69						intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCTTGTTGAAGAGCTCATTC	0.547													C	156568060	A	C	156568060	3	2	210	1	0	0	0	0	1	0	0	0	6593	72	3	5	927	5	GPATCH4	1	156568060	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1360868	156568060	92682561	18	111959											
OR6Y1	391112	broad.mit.edu	37	chr1	158517000	158517000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcctttacttcatggTtcctcagacagtaaatgatg	10	9	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:158517000T>G	uc010pil.1	-	1	896	c.896A>C	c.(895-897)AAC>ACC	p.N299T		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TACTTCATGGTTCCTCAGACA	0.443													G	158517000	T	G	158517000	3	3	210	1	0	0	0	0	1	0	0	0	11213	1725	60	5	83	5	OR6Y1	1	158517000	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	1948940	158517000	90733621	19	111960											
C1orf129	80133	broad.mit.edu	37	chr1	170934299	170934299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttccaacaggaaatgcTcgtgtggatgagtaaagata	11	5	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:170934299T>C	uc001ghg.2	+	7	513	c.383T>C	c.(382-384)CTC>CCC	p.L128P	C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.L128P	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	128							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGGAAATGCTCGTGTGGATG	0.368													C	170934299	T	C	170934299	3	2	210	1	0	0	0	0	1	0	0	0	1996	1551	54	3	405	3	C1orf129	1	170934299	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	12417299	170934299	78316322	20	111961											
CACNA1E	777	broad.mit.edu	37	chr1	181764055	181764055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccactattcgggataagcGttcaaattcctcgtggttgg	10	9	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:181764055G>A	uc001gow.2	+	45	6119	c.5954G>A	c.(5953-5955)CGT>CAT	p.R1985H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1873H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1254H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2028	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CGGGATAAGCGTTCAAATTCC	0.498													A	181764055	G	A	181764055	3	1	210	1	0	0	0	0	1	0	0	0	2542	1145	40	1	6132	1	CACNA1E	1	181764055	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	10829756	181764055	67486566	21	111962											
RNASEL	6041	broad.mit.edu	37	chr1	182555272	182555272	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccccatggtccagcagcaGatgcgtaatagcctccacat	9	14	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:182555272G>A	uc001gpj.1	-	1	837	c.670C>T	c.(670-672)CTG>TTG	p.L224L	RNASEL_uc009wxz.1_Silent_p.L224L|RNASEL_uc001gpk.2_Silent_p.L224L|RNASEL_uc009wya.1_Silent_p.L224L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	224	ANK 6.				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			ovary(4)|stomach(1)	5						TCCAGCAGCAGATGCGTAATA	0.532									Hereditary_Prostate_Cancer				A	182555272	G	A	182555272	2	1	210	1	0	0	0	0	0	0	0	1	13416	933	33	4		4	RNASEL	1	182555272	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	791217	182555272	66695349	22	111963											
SYT2	127833	broad.mit.edu	37	chr1	202571672	202571672	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagaacgcccacagtaAgctgtggagagagatgggga	15	9	0	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:202571672A>T	uc001gye.2	-	5	660	c.467T>A	c.(466-468)CTT>CAT	p.L156H	SYT2_uc010pqb.1_Missense_Mutation_p.L156H|SYT2_uc009xaf.2_5'UTR	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	156	Phospholipid binding (By similarity).|C2 1.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCCCACAGTAAGCTGTGGAGA	0.582													T	202571672	A	T	202571672	3	4	210	1	0	0	0	0	1	0	0	0	15471	86	3	5	812	5	SYT2	1	202571672	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	20016400	202571672	46678949	23	111964											
IL10	3586	broad.mit.edu	37	chr1	206943236	206943236	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gttttcacagggaagaaatcGatgctgtggaagaaaagaga	13	4	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:206943236G>C	uc001hen.1	-	4	441	c.382C>G	c.(382-384)CGA>GGA	p.R128G		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor	128					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAAGAAATCGATGCTGTGGA	0.512													C	206943236	G	C	206943236	3	2	210	1	0	0	0	0	1	0	0	0	7619	1066	37	5	162	5	IL10	1	206943236	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	4371564	206943236	42307385	24	111965											
CENPF	1063	broad.mit.edu	37	chr1	214815817	214815817	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaatgaacagcaccctgTgtctttggctccattggacg	9	12	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:214815817T>G	uc001hkm.2	+	12	4310	c.4136T>G	c.(4135-4137)GTG>GGG	p.V1379G		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGCACCCTGTGTCTTTGGCT	0.408													G	214815817	T	G	214815817	3	3	210	1	0	0	0	0	1	0	0	0	3231	1696	59	5	4178	5	CENPF	1	214815817	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	7872581	214815817	34434804	25	111966											
ESRRG	2104	broad.mit.edu	37	chr1	216692702	216692702	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacgacaccaaggatcaaAatttccatccaagcactctg	5	12	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:216692702A>C	uc001hkw.1	-	6	1090	c.924T>G	c.(922-924)ATT>ATG	p.I308M	ESRRG_uc001hky.1_Missense_Mutation_p.I285M|ESRRG_uc009xdp.1_Missense_Mutation_p.I285M|ESRRG_uc001hkz.1_Missense_Mutation_p.I246M|ESRRG_uc010puc.1_Missense_Mutation_p.I285M|ESRRG_uc001hla.1_Missense_Mutation_p.I285M|ESRRG_uc001hlb.1_Missense_Mutation_p.I285M|ESRRG_uc010pud.1_Missense_Mutation_p.I116M|ESRRG_uc001hlc.1_Missense_Mutation_p.I285M|ESRRG_uc001hld.1_Missense_Mutation_p.I285M|ESRRG_uc001hkx.1_Missense_Mutation_p.I320M|ESRRG_uc009xdo.1_Missense_Mutation_p.I285M|ESRRG_uc001hle.1_Missense_Mutation_p.I285M	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	308					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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAAGGATCAAAATTTCCATCC	0.478													C	216692702	A	C	216692702	3	2	210	1	0	0	0	0	1	0	0	0	5262	10	1	5	460	5	ESRRG	1	216692702	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1876885	216692702	32557919	26	111967											
ESRRG	2104	broad.mit.edu	37	chr1	216692733	216692733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcactctgcagaaggctcAtctggtccgccagggacagc	12	13	3	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:216692733A>C	uc001hkw.1	-	6	1059	c.893T>G	c.(892-894)ATG>AGG	p.M298R	ESRRG_uc001hky.1_Missense_Mutation_p.M275R|ESRRG_uc009xdp.1_Missense_Mutation_p.M275R|ESRRG_uc001hkz.1_Missense_Mutation_p.M236R|ESRRG_uc010puc.1_Missense_Mutation_p.M275R|ESRRG_uc001hla.1_Missense_Mutation_p.M275R|ESRRG_uc001hlb.1_Missense_Mutation_p.M275R|ESRRG_uc010pud.1_Missense_Mutation_p.M106R|ESRRG_uc001hlc.1_Missense_Mutation_p.M275R|ESRRG_uc001hld.1_Missense_Mutation_p.M275R|ESRRG_uc001hkx.1_Missense_Mutation_p.M310R|ESRRG_uc009xdo.1_Missense_Mutation_p.M275R|ESRRG_uc001hle.1_Missense_Mutation_p.M275R	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	298					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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAGAAGGCTCATCTGGTCCGC	0.428													C	216692733	A	C	216692733	3	2	210	1	0	0	0	0	1	0	0	0	5262	217	8	5	491	5	ESRRG	1	216692733	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	31	216692733	32557888	27	111968											
RBM34	23029	broad.mit.edu	37	chr1	235323865	235323870	+	In_Frame_Del	DEL	TTCGCT	TTCGCT	-													ctgcgttagtgtgtttcttcTtcgctttcacttttttggca							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:235323864_235323869CTTCGCT>C	uc001hwn.3	-	2	553_558	c.322_327AGCGAAG>G	c.(322-327)gcgaag>G	p.AK108del	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_In_Frame_Del_p.AK108del	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	108						nucleolus	RNA binding|nucleotide 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)			TGTGTTTCTTCTTCGCTTTCACTTTT	0.35													-	235323870	TTCGCT	-	235323865	7	5	210	1	0	1	0	1	0	0	0	0	13131	1609	56	0	1023	0	RBM34	1	235323865	In_Frame_Del	DEL	TTCGCT	TCGA-D7-6526-01A-11D-1800-08	18631132	235323865	13926756	28	111969											
NID1	4811	broad.mit.edu	37	chr1	236212088	236212088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctggaaagagatctccgGgaaccctctgtggacacact	12	11	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:236212088G>A	uc001hxo.2	-	2	529	c.427C>T	c.(427-429)CCG>TCG	p.P143S	NID1_uc009xgd.2_Missense_Mutation_p.P143S	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	143	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	GAGATCTCCGGGAACCCTCTG	0.582													A	236212088	G	A	236212088	3	1	210	1	0	0	0	0	1	0	0	0	10414	1232	43	4	3392	4	NID1	1	236212088	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	888223	236212088	13038533	29	111970											
RYR2	6262	broad.mit.edu	37	chr1	237756796	237756796	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tactattactcagtgagaatCtttcctggacaagaacctgc	7	10	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:237756796C>A	uc001hyl.1	+	33	4416	c.4296C>A	c.(4294-4296)ATC>ATA	p.I1432I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1432	Cytoplasmic (By similarity).|B30.2/SPRY 3.|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CAGTGAGAATCTTTCCTGGAC	0.398													A	237756796	C	A	237756796	2	1	210	1	0	0	0	0	0	0	0	1	13769	903	32	5		5	RYR2	1	237756796	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1544708	237756796	11493825	30	111971											
RYR2	6262	broad.mit.edu	37	chr1	237758906	237758906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggtggatgctgccagCgggctgctcacattcattgc	14	10	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:237758906C>A	uc001hyl.1	+	34	4665	c.4545C>A	c.(4543-4545)AGC>AGA	p.S1515R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1515	Cytoplasmic (By similarity).|B30.2/SPRY 3.|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			ATGCTGCCAGCGGGCTGCTCA	0.522													A	237758906	C	A	237758906	3	1	210	1	0	0	0	0	1	0	0	0	13769	767	27	5	4679	5	RYR2	1	237758906	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	2110	237758906	11491715	31	111972											
ZNF669	79862	broad.mit.edu	37	chr1	247263752	247263752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacacccagcctctatatcaTgacttctttcatggcgagta	6	12	4	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:247263752T>C	uc001ice.2	-	4	1492	c.1319A>G	c.(1318-1320)CAT>CGT	p.H440R	ZNF669_uc001icf.2_Missense_Mutation_p.H354R	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	440	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			cTCTATATCATGACTTCTTTC	0.224													C	247263752	T	C	247263752	3	2	210	1	0	0	0	0	1	0	0	0	18073	1464	51	3	79	3	ZNF669	1	247263752	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	9504846	247263752	1986869	32	111973											
OR2L2	26246	broad.mit.edu	37	chr1	248202430	248202430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accccaatgctcaaccccatCatctacagcctgagaaacaa	4	16	3	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr1:248202430C>T	uc001idw.2	+	1	957	c.861C>T	c.(859-861)ATC>ATT	p.I287I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			TCAACCCCATCATCTACAGCC	0.463													T	248202430	C	T	248202430	2	4	210	1	0	0	0	0	0	0	0	1	11007	816	29	4		4	OR2L2	1	248202430	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	938678	248202430	1048191	33	111974											
FSHR	2492	broad.mit.edu	37	chr2	49217713	49217713	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaacttacagtaaaacTttttggagagaatgaatctt	7	4	1	2	rs1126715		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:49217713T>A	uc002rww.2	-	5	512	c.438A>T	c.(436-438)AAA>AAT	p.K146N	FSHR_uc002rwx.2_Missense_Mutation_p.K146N|FSHR_uc010fbn.2_Missense_Mutation_p.K146N|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	146	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	ACAGTAAAACTTTTTGGAGAG	0.373									Gonadal_Dysgenesis_46_XX				A	49217713	T	A	49217713	3	1	210	1	0	0	0	0	1	0	0	0	6073	1606	56	5	1673	5	FSHR	2	49217713	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08		49217713	193981660	34	111975											
RTN4	57142	broad.mit.edu	37	chr2	55209688	55209688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatcaactaagaagaggCgcctgagttcctttatcgtg	9	9	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:55209688C>T	uc002rye.2	-	5	3621	c.3323G>A	c.(3322-3324)CGC>CAC	p.R1108H	RTN4_uc002ryc.2_Missense_Mutation_p.R115H|RTN4_uc002ryd.2_Missense_Mutation_p.R902H|RTN4_uc002ryf.2_Missense_Mutation_p.R308H|RTN4_uc002ryg.2_Missense_Mutation_p.R289H	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	1108	Lumenal (Potential).|Reticulon.				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			ovary(2)|large_intestine(1)	3						TAAGAAGAGGCGCCTGAGTTC	0.378													T	55209688	C	T	55209688	3	4	210	1	0	0	0	0	1	0	0	0	13728	768	27	1	275	1	RTN4	2	55209688	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	5991975	55209688	187989685	35	111976											
DYSF	8291	broad.mit.edu	37	chr2	71795359	71795359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacaacgggcctcaccTaccccaagttttctgacgtc	10	15	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:71795359T>A	uc002sie.2	+	26	3077	c.2701T>A	c.(2701-2703)TAC>AAC	p.Y901N	DYSF_uc010feg.2_Missense_Mutation_p.Y932N|DYSF_uc010feh.2_Missense_Mutation_p.Y887N|DYSF_uc002sig.3_Missense_Mutation_p.Y887N|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.Y901N|DYSF_uc010fef.2_Missense_Mutation_p.Y918N|DYSF_uc010fei.2_Missense_Mutation_p.Y918N|DYSF_uc010fek.2_Missense_Mutation_p.Y919N|DYSF_uc010fej.2_Missense_Mutation_p.Y888N|DYSF_uc010fel.2_Missense_Mutation_p.Y888N|DYSF_uc010feo.2_Missense_Mutation_p.Y933N|DYSF_uc010fem.2_Missense_Mutation_p.Y902N|DYSF_uc010fen.2_Missense_Mutation_p.Y919N|DYSF_uc002sif.2_Missense_Mutation_p.Y902N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	901	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GGGCCTCACCTACCCCAAGTT	0.607													A	71795359	T	A	71795359	3	1	210	1	0	0	0	0	1	0	0	0	4859	1522	53	5	2995	5	DYSF	2	71795359	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	16585671	71795359	171404014	36	111977											
LOXL3	84695	broad.mit.edu	37	chr2	74777399	74777399	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtgcgtacagtcactgttCccccagccccgggaggcaca	11	16	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:74777399C>T	uc002smp.1	-	3	462	c.390G>A	c.(388-390)GGG>GGA	p.G130G	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.G130G|LOXL3_uc002smq.1_Silent_p.G130G|LOXL3_uc010ffn.1_Silent_p.G130G|DOK1_uc002smr.2_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	130	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						AGTCACTGTTCCCCCAGCCCC	0.587													T	74777399	C	T	74777399	2	4	210	1	0	0	0	0	0	0	0	1	8901	842	30	4		4	LOXL3	2	74777399	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	2982040	74777399	168421974	37	111978											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105889361	105889361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttctggagcagccgccgCagcttggcctgcgtctcggt	14	13	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:105889361C>T	uc002tcq.2	-	10	2007	c.1923G>A	c.(1921-1923)CTG>CTA	p.L641L	TGFBRAP1_uc010fjc.2_Silent_p.L410L|TGFBRAP1_uc002tcr.3_Silent_p.L641L	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	641					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)|skin(1)	2						GCAGCCGCCGCAGCTTGGCCT	0.547													T	105889361	C	T	105889361	2	4	210	1	0	0	0	0	0	0	0	1	15821	697	25	2		2	TGFBRAP1	2	105889361	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	31111962	105889361	137310012	38	111979											
TTL	150465	broad.mit.edu	37	chr2	113286266	113286266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacacatttcaggaagctctAtgcagaactgtgccaaggca	9	10	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:113286266A>G	uc002thu.2	+	7	1207	c.1028A>G	c.(1027-1029)TAT>TGT	p.Y343C	TTL_uc010fkm.1_Intron	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	343	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGGAAGCTCTATGCAGAACTG	0.383			T	ETV6	ALL								G	113286266	A	G	113286266	3	3	210	1	0	0	0	0	1	0	0	0	16718	449	16	3	1054	3	TTL	2	113286266	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	7396905	113286266	129913107	39	111980											
MARCO	8685	broad.mit.edu	37	chr2	119739960	119739960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagtccaggagccacagGcctgaaaggaagcaaagggg	17	9	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:119739960G>T	uc002tln.1	+	12	1169	c.1037G>T	c.(1036-1038)GGC>GTC	p.G346V	MARCO_uc010yyf.1_Missense_Mutation_p.G268V	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	346	Collagen-like.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GGAGCCACAGGCCTGAAAGGA	0.567													T	119739960	G	T	119739960	3	4	210	1	0	0	0	0	1	0	0	0	9311	1203	42	5	1083	5	MARCO	2	119739960	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	6453694	119739960	123459413	40	111981											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135884190	135884191	+	Frame_Shift_Ins	INS	-	-	AA													agctccacattggtctgttaINSgagttcgaaaagctgagaat							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:135884189_135884190T>TAA	uc010fnf.3	+	10	979_980	c.936_937T>TAA	c.(934-939)gttagafs	p.V312fs	RAB3GAP1_uc002tuj.3_Frame_Shift_Ins_p.V312fs|RAB3GAP1_uc010fng.3_Frame_Shift_Ins_p.V137fs|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	312						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATTGGTCTGTTAGAGTTCGAAA	0.361													AA	135884191	-	AA	135884190	7	5	210	1	0	1	1	0	0	0	0	0	12935	412	15	0	979	0	RAB3GAP1	2	135884190	Frame_Shift_Ins	INS	-	TCGA-D7-6526-01A-11D-1800-08	16144230	135884190	107315183	41	111982											
ORC4L	5000	broad.mit.edu	37	chr2	148705692	148705692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagataactgttctttAaatattttaacatactgtgg	8	4	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:148705692A>C	uc002twi.2	-	9	825	c.690T>G	c.(688-690)TTT>TTG	p.F230L	ORC4L_uc002twj.2_Missense_Mutation_p.F230L|ORC4L_uc010zbo.1_Missense_Mutation_p.F156L|ORC4L_uc010zbp.1_Missense_Mutation_p.F13L|ORC4L_uc010fnr.2_Missense_Mutation_p.F230L|ORC4L_uc010zbq.1_Missense_Mutation_p.F146L|ORC4L_uc002twk.2_Missense_Mutation_p.F230L|ORC4L_uc010zbr.1_Missense_Mutation_p.F230L	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	230					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		ACTGTTCTTTAAATATTTTAA	0.328													C	148705692	A	C	148705692	3	2	210	1	0	0	0	0	1	0	0	0	11264	359	13	5	644	5	ORC4L	2	148705692	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	12821502	148705692	94493681	42	111983											
EPC2	26122	broad.mit.edu	37	chr2	149526718	149526718	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaatgcctcttttgtctAggtattgtccccagtatcag	9	9	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:149526718A>G	uc010zbt.1	+	8	1168	c.1141_splice	c.e8-2	p.V381_splice		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2						chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCTTTTGTCTAGGTATTGTCC	0.383													G	149526718	A	G	149526718	5	3	210	1	0	0	0	0	0	0	1	0	5161	434	15	3	1169	3	EPC2	2	149526718	Splice_Site	SNP	A	TCGA-D7-6526-01A-11D-1800-08	821026	149526718	93672655	43	111984											
SCN3A	6328	broad.mit.edu	37	chr2	165950892	165950892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaattcttactgctgggcGaggtatgggtttctgaggtt	14	5	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:165950892G>A	uc002ucx.2	-	26	5020	c.4528C>T	c.(4528-4530)CGC>TGC	p.R1510C	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.R1461C|SCN3A_uc002ucz.2_Missense_Mutation_p.R1461C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1510						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	ACTGCTGGGCGAGGTATGGGT	0.393													A	165950892	G	A	165950892	3	1	210	1	0	0	0	0	1	0	0	0	13918	1058	37	1	1486	1	SCN3A	2	165950892	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	16424174	165950892	77248481	44	111985											
XIRP2	129446	broad.mit.edu	37	chr2	167760240	167760240	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggattctgtggacaAgagtaacaacaccagggaat	12	6	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:167760240A>T	uc002udx.2	+	1	266	c.248A>T	c.(247-249)AAG>ATG	p.K83M	XIRP2_uc010fpn.2_Missense_Mutation_p.K83M|XIRP2_uc010fpo.2_Missense_Mutation_p.K83M|XIRP2_uc010fpp.2_Missense_Mutation_p.K83M	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCTGTGGACAAGAGTAACAAC	0.512													T	167760240	A	T	167760240	3	4	210	1	0	0	0	0	1	0	0	0	17427	72	3	5	250	5	XIRP2	2	167760240	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1809348	167760240	75439133	45	111986											
TTN	7273	broad.mit.edu	37	chr2	179400404	179400404	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtgatgtgaaggatcttgtGacaataacttggtagtggcc	13	5	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:179400404G>C	uc010zfg.1	-	307	93458	c.93234C>G	c.(93232-93234)GTC>GTG	p.V31078V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V24773V|TTN_uc010zfi.1_Silent_p.V24706V|TTN_uc010zfj.1_Silent_p.V24581V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32005							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATCTTGTGACAATAACTT	0.418													C	179400404	G	C	179400404	2	2	210	1	0	0	0	0	0	0	0	1	16732	1277	45	5		5	TTN	2	179400404	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	11640164	179400404	63798969	46	111987											
PGAP1	80055	broad.mit.edu	37	chr2	197757109	197757109	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttggacacttttactagAacccacatagatgtccctga	6	11	0	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:197757109A>G	uc002utw.2	-	9	1164	c.1050T>C	c.(1048-1050)GTT>GTC	p.V350V	PGAP1_uc002utx.2_Silent_p.V176V|PGAP1_uc002uty.1_Silent_p.V350V|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	350	Lumenal (Potential).				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			ovary(3)|central_nervous_system(1)	4						CTTTTACTAGAACCCACATAG	0.279													G	197757109	A	G	197757109	2	3	210	1	0	0	0	0	0	0	0	1	11777	233	9	3		3	PGAP1	2	197757109	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	18356705	197757109	45442264	47	111988											
MAP2	4133	broad.mit.edu	37	chr2	210559045	210559045	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccatagcccttggatttaaCtttggtcggggacatgatct	10	9	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:210559045C>G	uc002vde.1	+	7	2399	c.2151C>G	c.(2149-2151)AAC>AAG	p.N717K	MAP2_uc002vdc.1_Missense_Mutation_p.N717K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.N713K	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	717					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	TTGGATTTAACTTTGGTCGGG	0.458													G	210559045	C	G	210559045	3	3	210	1	0	0	0	0	1	0	0	0	9235	564	20	5	2165	5	MAP2	2	210559045	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	12801936	210559045	32640328	48	111989											
VIL1	7429	broad.mit.edu	37	chr2	219297563	219297563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcatcagcttatcaagcCgtcatcctggaccagaagta	8	12	3	1	rs139447471		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr2:219297563C>T	uc002via.2	+	13	1454	c.1389C>T	c.(1387-1389)GCC>GCT	p.A463A	VIL1_uc010zke.1_Silent_p.A152A|VIL1_uc002vib.2_Silent_p.A463A	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	463	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			ovary(1)	1		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)		CTTATCAAGCCGTCATCCTGG	0.552													T	219297563	C	T	219297563	2	4	210	1	0	0	0	0	0	0	0	1	17161	639	23	1		1	VIL1	2	219297563	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	8738518	219297563	23901810	49	111990											
CHL1	10752	broad.mit.edu	37	chr3	431150	431150	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgactctctattctggAgaagactgtaagtgatgcac	10	8	3	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:431150A>T	uc003bou.2	+	19	2686	c.2415A>T	c.(2413-2415)GGA>GGT	p.G805G	CHL1_uc003bot.2_Silent_p.G821G|CHL1_uc003bow.1_Silent_p.G805G|CHL1_uc011asi.1_Silent_p.G821G	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	805	Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		TCTATTCTGGAGAAGACTGTA	0.383													T	431150	A	T	431150	2	4	210	1	0	0	0	0	0	0	0	1	3349	291	11	5		5	CHL1	3	431150	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08		431150	197591280	50	111991											
CNTN4	152330	broad.mit.edu	37	chr3	3030113	3030113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatacctgtatagccactaaCcattttggaactgctagcag	7	10	0	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:3030113C>A	uc003bpc.2	+	13	1664	c.1443C>A	c.(1441-1443)AAC>AAA	p.N481K	CNTN4_uc003bpb.1_Missense_Mutation_p.N153K|CNTN4_uc003bpd.1_Missense_Mutation_p.N481K|CNTN4_uc003bpe.2_Missense_Mutation_p.N153K|CNTN4_uc003bpf.2_Missense_Mutation_p.N153K	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	481	Ig-like C2-type 5.				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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TAGCCACTAACCATTTTGGAA	0.363													A	3030113	C	A	3030113	3	1	210	1	0	0	0	0	1	0	0	0	3643	506	18	5	1485	5	CNTN4	3	3030113	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	2598963	3030113	194992317	51	111992											
ZNF167	55888	broad.mit.edu	37	chr3	44607107	44607107	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccacctggagcctccTtatgacccagggacacacca	10	16	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:44607107T>A	uc010hin.2	+	3	940	c.552T>A	c.(550-552)CCT>CCA	p.P184P	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Silent_p.P184P|ZNF167_uc010hio.2_Silent_p.P34P|ZNF167_uc003cnj.2_Silent_p.P184P|ZNF167_uc003cnk.2_Silent_p.P184P	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	184					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TGGAGCCTCCTTATGACCCAG	0.577													A	44607107	T	A	44607107	2	1	210	1	0	0	0	0	0	0	0	1	17738	1596	56	5		5	ZNF167	3	44607107	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	41576994	44607107	153415323	52	111993											
VGLL3	389136	broad.mit.edu	37	chr3	87027822	87027822	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagtgaaaaggacacagcgaGagttaaggtactccatctcg	11	8	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:87027822G>C	uc003dqn.2	-	2	621	c.257C>G	c.(256-258)TCT>TGT	p.S86C		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	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)		GACACAGCGAGAGTTAAGGTA	0.413													C	87027822	G	C	87027822	3	2	210	1	0	0	0	0	1	0	0	0	17157	942	33	5	735	5	VGLL3	3	87027822	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	42420715	87027822	110994608	53	111994											
SIDT1	54847	broad.mit.edu	37	chr3	113338548	113338548	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atagaatggtgttgctggttGtggggaatctggttaactgg	16	3	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:113338548G>C	uc003eak.2	+	21	2716	c.2065G>C	c.(2065-2067)GTG>CTG	p.V689L	SIDT1_uc011big.1_Missense_Mutation_p.V442L|SIDT1_uc011bii.1_Missense_Mutation_p.V142L	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	689	Helical; (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GTTGCTGGTTGTGGGGAATCT	0.383													C	113338548	G	C	113338548	3	2	210	1	0	0	0	0	1	0	0	0	14302	1377	48	5	2147	5	SIDT1	3	113338548	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	26310726	113338548	84683882	54	111995											
B4GALT4	8702	broad.mit.edu	37	chr3	118931416	118931416	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcatgcaccaaaccagaaatCcactgtgatgttgatatata	6	9	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:118931416C>G	uc003ecg.2	-	8	1656	c.1015G>C	c.(1015-1017)GAT>CAT	p.D339H	B4GALT4_uc003ece.1_3'UTR|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.D339H|B4GALT4_uc003eci.2_Missense_Mutation_p.D339H	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	339	Lumenal (Potential).				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				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AACCAGAAATCCACTGTGATG	0.388													G	118931416	C	G	118931416	3	3	210	1	0	0	0	0	1	0	0	0	1273	855	30	5	23	5	B4GALT4	3	118931416	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	5592868	118931416	79091014	55	111996											
EAF2	55840	broad.mit.edu	37	chr3	121554150	121554150	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgaatagcgcagcgggAttctcacacctagaccgtcg	10	11	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:121554150A>C	uc003een.2	+	1	117	c.18A>C	c.(16-18)GGA>GGC	p.G6G	IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	6					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		GCGCAGCGGGATTCTCACACC	0.567													C	121554150	A	C	121554150	2	2	210	1	0	0	0	0	0	0	0	1	4876	320	12	5		5	EAF2	3	121554150	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	2622734	121554150	76468280	56	111997											
STAG1	10274	broad.mit.edu	37	chr3	136141289	136141290	+	Missense_Mutation	DNP	TC	TC	CA													ccacagaatgattgaatcgaTctacaaactcatcaatcagc							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:136141289_136141290TC>CA	uc003era.1	-	19	2291_2292	c.1999_2000GA>TG	c.(1999-2001)GAT>TGT	p.D667C	STAG1_uc003erb.1_Missense_Mutation_p.D667C|STAG1_uc003erc.1_Missense_Mutation_p.D441C|STAG1_uc010hua.1_Missense_Mutation_p.D530C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	667					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						ATTGAATCGATCTACAAACTCA	0.361													CA	136141290	TC	CA	136141289	3	2	210	1	0	0	0	0	1	0	0	0	15241	1435	50	3	1840	3	STAG1	3	136141289	Missense_Mutation	DNP	TC	TCGA-D7-6526-01A-11D-1800-08	14587139	136141289	61881141	57	111998											
SI	6476	broad.mit.edu	37	chr3	164735642	164735642	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacggtaagttagagcaggAgttggctggaatgtaacatc	14	5	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:164735642A>C	uc003fei.2	-	30	3602	c.3540T>G	c.(3538-3540)ACT>ACG	p.T1180T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1180	Sucrase.|Lumenal.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGAGCAGGAGTTGGCTGGA	0.358										HNSCC(35;0.089)			C	164735642	A	C	164735642	2	2	210	1	0	0	0	0	0	0	0	1	14297	291	11	5		5	SI	3	164735642	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	28594353	164735642	33286788	58	111999											
SI	6476	broad.mit.edu	37	chr3	164764774	164764774	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtaagaatgaagcttctcTtattaggaaaaactttttgt	9	4	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:164764774T>G	uc003fei.2	-	16	1804	c.1742A>C	c.(1741-1743)AAG>ACG	p.K581T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	581	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAGCTTCTCTTATTAGGAAA	0.313										HNSCC(35;0.089)			G	164764774	T	G	164764774	3	3	210	1	0	0	0	0	1	0	0	0	14297	1609	56	5	3873	5	SI	3	164764774	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	29132	164764774	33257656	59	112000											
ZBBX	79740	broad.mit.edu	37	chr3	166960393	166960393	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgctgaaatctgggaActcttctgaggttaagctgt	12	7	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:166960393A>C	uc003fep.2	-	20	2499	c.2176T>G	c.(2176-2178)TTC>GTC	p.F726V	ZBBX_uc011bpc.1_Missense_Mutation_p.F765V|ZBBX_uc003feq.2_Missense_Mutation_p.F697V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	726						intracellular	zinc ion binding			ovary(2)	2						AAATCTGGGAACTCTTCTGAG	0.363													C	166960393	A	C	166960393	3	2	210	1	0	0	0	0	1	0	0	0	17513	43	2	5	234	5	ZBBX	3	166960393	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	2195619	166960393	31062037	60	112001											
SERPINI2	5276	broad.mit.edu	37	chr3	167159899	167159899	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgtgcttttcattcAcagtgaatctaaatctcttc	7	9	4	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr3:167159899A>G	uc003fer.1	-	8	1274	c.1216T>C	c.(1216-1218)TGA>CGA	p.*406R	SERPINI2_uc003fes.1_Nonstop_Mutation_p.*416R|SERPINI2_uc003fet.1_Nonstop_Mutation_p.*406R	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	406					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						CTTTTCATTCACAGTGAATCT	0.323													G	167159899	A	G	167159899	4	3	210	1	0	0	0	0	0	0	0	0	14119	172	6	3	5	3	SERPINI2	3	167159899	Nonstop_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	199506	167159899	30862531	61	112002											
GRK4	2868	broad.mit.edu	37	chr4	3015511	3015511	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaaggtgaagctatggctCtaaatgagaaaagaattctg	12	4	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:3015511C>T	uc003ggn.1	+	8	1152	c.697C>T	c.(697-699)CTA>TTA	p.L233L	GRK4_uc003ggo.1_Silent_p.L233L|GRK4_uc003ggp.1_Silent_p.L201L|GRK4_uc003ggq.1_Silent_p.L201L	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	233	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCTATGGCTCTAAATGAGAA	0.393													T	3015511	C	T	3015511	2	4	210	1	0	0	0	0	0	0	0	1	6791	912	32	4		4	GRK4	4	3015511	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08		3015511	188138765	62	112003											
TLR10	81793	broad.mit.edu	37	chr4	38774898	38774898	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attaacattaatagcagctcGaaggtttgcccagaaaagcc	8	9	0	1	rs145139818	byFrequency	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:38774898G>A	uc003gti.2	-	2	2693	c.2314C>T	c.(2314-2316)CGA>TGA	p.R772*	TLR10_uc003gtj.2_Nonsense_Mutation_p.R772*|TLR10_uc003gtk.2_Nonsense_Mutation_p.R772*	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	772	TIR.|Cytoplasmic (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						ATAGCAGCTCGAAGGTTTGCC	0.418													A	38774898	G	A	38774898	4	1	210	1	0	0	0	0	0	1	0	0	15947	1066	37	1	125	1	TLR10	4	38774898	Nonsense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	35759387	38774898	152379378	63	112004											
ATP8A1	10396	broad.mit.edu	37	chr4	42524204	42524204	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaactcataactctcttcGagtttgagtagcctgttctg	7	10	4	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:42524204G>A	uc003gwr.2	-	22	2152	c.1920C>T	c.(1918-1920)CTC>CTT	p.L640L	ATP8A1_uc003gws.2_Silent_p.L625L	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	640	Cytoplasmic (Potential).				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			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	AACTCTCTTCGAGTTTGAGTA	0.428													A	42524204	G	A	42524204	2	1	210	1	0	0	0	0	0	0	0	1	1192	1045	37	1		1	ATP8A1	4	42524204	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	3749306	42524204	148630072	64	112005											
FRYL	285527	broad.mit.edu	37	chr4	48611786	48611786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtttaaagtgcttaaAagctaagtttagaacttcat	6	5	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:48611786A>T	uc003gyh.1	-	8	1071	c.466T>A	c.(466-468)TTT>ATT	p.F156I	FRYL_uc003gyk.2_Missense_Mutation_p.F156I	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AAGTGCTTAAAAGCTAAGTTT	0.313													T	48611786	A	T	48611786	3	4	210	1	0	0	0	0	1	0	0	0	6064	14	1	5	8803	5	FRYL	4	48611786	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	6087582	48611786	142542490	65	112006											
LNX1	84708	broad.mit.edu	37	chr4	54364820	54364820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctctacctttagaatgatGtctcctggcagtagccggcc	10	12	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:54364820G>T	uc003hag.3	-	5	1222	c.966C>A	c.(964-966)GAC>GAA	p.D322E	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.D226E|LNX1_uc003hah.3_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	322	PDZ 1.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTAGAATGATGTCTCCTGGCA	0.493													T	54364820	G	T	54364820	3	4	210	1	0	0	0	0	1	0	0	0	8865	1368	48	5	1248	5	LNX1	4	54364820	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	5753034	54364820	136789456	66	112007											
TECRL	253017	broad.mit.edu	37	chr4	65275058	65275058	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgaagcgagggacttgtgCcttttgaacattgtgtgaac	12	8	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:65275058C>A	uc003hcv.2	-	1	121	c.12G>T	c.(10-12)AGG>AGT	p.R4S	TECRL_uc003hcw.2_Missense_Mutation_p.R4S	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	4					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GGGACTTGTGCCTTTTGAACA	0.408													A	65275058	C	A	65275058	3	1	210	1	0	0	0	0	1	0	0	0	15743	738	26	5	1127	5	TECRL	4	65275058	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	10910238	65275058	125879218	67	112008											
EPHA5	2044	broad.mit.edu	37	chr4	66286191	66286191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatttcatactctaggaTgattccattgggacgatctg	9	8	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:66286191T>C	uc003hcy.2	-	6	1688	c.1495A>G	c.(1495-1497)ATC>GTC	p.I499V	EPHA5_uc003hcx.2_Missense_Mutation_p.I430V|EPHA5_uc003hcz.2_Missense_Mutation_p.I499V|EPHA5_uc011cah.1_Missense_Mutation_p.I499V|EPHA5_uc011cai.1_Missense_Mutation_p.I499V|EPHA5_uc003hda.2_Missense_Mutation_p.I499V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	499	Extracellular (Potential).|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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TACTCTAGGATGATTCCATTG	0.343										TSP Lung(17;0.13)			C	66286191	T	C	66286191	3	2	210	1	0	0	0	0	1	0	0	0	5170	1464	51	3	1670	3	EPHA5	4	66286191	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	1011133	66286191	124868085	68	112009											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69094501	69094501	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacataaatccagcacataAcattgtatcagtcacaaagc	5	10	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:69094501A>G	uc003hdw.3	-	9	1184	c.1048T>C	c.(1048-1050)TTA>CTA	p.L350L		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	350	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CCAGCACATAACATTGTATCA	0.348													G	69094501	A	G	69094501	2	3	210	1	0	0	0	0	0	0	0	1	16237	40	2	3		3	TMPRSS11B	4	69094501	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	2808310	69094501	122059775	69	112010											
LIN54	132660	broad.mit.edu	37	chr4	83852254	83852254	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccgggctttcttcaaaattCttacagccaatacatttgca	5	11	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:83852254C>A	uc003hnx.3	-	12	2268	c.1890G>T	c.(1888-1890)AAG>AAT	p.K630N	LIN54_uc003hnz.3_Missense_Mutation_p.K409N|LIN54_uc003hny.3_Missense_Mutation_p.K229N|LIN54_uc010ijt.2_Missense_Mutation_p.K541N|LIN54_uc010iju.2_Missense_Mutation_p.K229N|LIN54_uc010ijv.2_Missense_Mutation_p.K409N	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	630	CXC 2.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				CTTCAAAATTCTTACAGCCAA	0.353													A	83852254	C	A	83852254	3	1	210	1	0	0	0	0	1	0	0	0	8809	912	32	5	367	5	LIN54	4	83852254	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	14757753	83852254	107302022	70	112011											
NDST4	64579	broad.mit.edu	37	chr4	115891689	115891689	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggaaaccaccagaacTcatccacagaccgaagtaaa	8	11	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:115891689T>A	uc003ibu.2	-	4	1797	c.1118A>T	c.(1117-1119)GAG>GTG	p.E373V	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	373	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCACCAGAACTCATCCACAGA	0.403													A	115891689	T	A	115891689	3	1	210	1	0	0	0	0	1	0	0	0	10258	1551	54	5	1544	5	NDST4	4	115891689	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	32039435	115891689	75262587	71	112012											
BBS7	55212	broad.mit.edu	37	chr4	122754433	122754433	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggtgttctgaaagtaAaatgtcacacattctcctgc	8	8	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:122754433A>C	uc003ied.2	-	15	1803	c.1629T>G	c.(1627-1629)TTT>TTG	p.F543L	BBS7_uc003iee.1_Missense_Mutation_p.F543L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	543					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			ovary(1)	1						TCTGAAAGTAAAATGTCACAC	0.388									Bardet-Biedl_syndrome				C	122754433	A	C	122754433	3	2	210	1	0	0	0	0	1	0	0	0	1341	11	1	5	543	5	BBS7	4	122754433	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	6862744	122754433	68399843	72	112013											
GLRB	2743	broad.mit.edu	37	chr4	158060078	158060078	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatattgaatatggtaactGtacaaaatactataaaggca	7	4	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:158060078G>C	uc003ipj.2	+	7	930	c.728G>C	c.(727-729)TGT>TCT	p.C243S		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	243	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TATGGTAACTGTACAAAATAC	0.313													C	158060078	G	C	158060078	3	2	210	1	0	0	0	0	1	0	0	0	6458	1377	48	5	750	5	GLRB	4	158060078	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	35305645	158060078	33094198	73	112014											
GRIA2	2891	broad.mit.edu	37	chr4	158257859	158257859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagtctctggttttccTtgggtgcctttatgcagcaa	9	8	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr4:158257859T>G	uc003ipm.3	+	11	2263	c.1804T>G	c.(1804-1806)TTG>GTG	p.L602V	GRIA2_uc011cit.1_Missense_Mutation_p.L555V|GRIA2_uc003ipl.3_Missense_Mutation_p.L602V|GRIA2_uc003ipk.3_Missense_Mutation_p.L555V|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	602	Cytoplasmic (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGGTTTTCCTTGGGTGCCTT	0.433													G	158257859	T	G	158257859	3	3	210	1	0	0	0	0	1	0	0	0	6768	1606	56	5	1846	5	GRIA2	4	158257859	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	197781	158257859	32896417	74	112015											
TRIO	7204	broad.mit.edu	37	chr5	14291233	14291233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtccaccatgctggacCggctgcactcgacacggcag	13	14	0	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:14291233C>T	uc003jff.2	+	5	955	c.949C>T	c.(949-951)CGG>TGG	p.R317W	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R268W|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	317	Spectrin 1.				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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CATGCTGGACCGGCTGCACTC	0.552													T	14291233	C	T	14291233	3	4	210	1	0	0	0	0	1	0	0	0	16549	643	23	1	967	1	TRIO	5	14291233	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		14291233	166624027	75	112016											
PDZD2	23037	broad.mit.edu	37	chr5	31983689	31983689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagacagatgctcctctgaCcacaagcaatgacaaacgcc	7	13	1	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:31983689C>A	uc003jhl.2	+	3	1293	c.905C>A	c.(904-906)ACC>AAC	p.T302N	PDZD2_uc003jhm.2_Missense_Mutation_p.T302N|PDZD2_uc011cnx.1_Missense_Mutation_p.T128N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	302					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCTCCTCTGACCACAAGCAAT	0.517													A	31983689	C	A	31983689	3	1	210	1	0	0	0	0	1	0	0	0	11701	507	18	5	911	5	PDZD2	5	31983689	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	17692456	31983689	148931571	76	112017											
SPEF2	79925	broad.mit.edu	37	chr5	35646909	35646909	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaaaaagaggcagaAgtaagtgataatcctttaat	8	3	0	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:35646909A>C	uc003jjo.2	+	5	837	c.726A>C	c.(724-726)GAA>GAC	p.E242D	SPEF2_uc003jjn.1_Missense_Mutation_p.E242D|SPEF2_uc003jjq.3_Missense_Mutation_p.E242D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	242	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAGGCAGAAGTAAGTGATA	0.343													C	35646909	A	C	35646909	3	2	210	1	0	0	0	0	1	0	0	0	15034	86	3	5	744	5	SPEF2	5	35646909	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	3663220	35646909	145268351	77	112018											
C5orf33	133686	broad.mit.edu	37	chr5	36197731	36197731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtatttttggttcttccgGactgtagagcagtgattcat	10	6	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:36197731G>T	uc003jkf.3	-	11	1102	c.1102C>A	c.(1102-1104)CCG>ACG	p.P368T	C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_Missense_Mutation_p.P173T|C5orf33_uc003jkg.3_Missense_Mutation_p.P205T|C5orf33_uc011cov.1_Missense_Mutation_p.P227T	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	hypothetical protein LOC133686 isoform 1	368							NAD+ kinase activity				0	all_lung(31;5.63e-05)		Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTTCTTCCGGACTGTAGAGC	0.358													T	36197731	G	T	36197731	3	4	210	1	0	0	0	0	1	0	0	0	2292	1174	41	5	234	5	C5orf33	5	36197731	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	550822	36197731	144717529	78	112019											
EGFLAM	133584	broad.mit.edu	37	chr5	38448449	38448449	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtttatcggccgcagttaCctgacgtatgacaacccaga	9	12	0	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:38448449C>A	uc003jlc.1	+	19	2859	c.2535C>A	c.(2533-2535)TAC>TAA	p.Y845*	EGFLAM_uc003jlb.1_Nonsense_Mutation_p.Y837*|EGFLAM_uc003jle.1_Nonsense_Mutation_p.Y603*|EGFLAM_uc003jlf.1_Nonsense_Mutation_p.Y203*|EGFLAM_uc003jlg.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	845	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GCCGCAGTTACCTGACGTATG	0.463													A	38448449	C	A	38448449	4	1	210	1	0	0	0	0	0	1	0	0	4966	518	18	5	2595	5	EGFLAM	5	38448449	Nonsense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	2250718	38448449	142466811	79	112020											
FYB	2533	broad.mit.edu	37	chr5	39201957	39201957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggttttgtggaatttcGtcaggtcaacatttggtggt	13	4	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:39201957G>A	uc003jls.2	-	1	1173	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M	FYB_uc003jlt.2_Missense_Mutation_p.T369M|FYB_uc003jlu.2_Missense_Mutation_p.T369M|FYB_uc011cpl.1_Missense_Mutation_p.T379M	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	369	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			GTGGAATTTCGTCAGGTCAAC	0.458													A	39201957	G	A	39201957	3	1	210	1	0	0	0	0	1	0	0	0	6124	1145	40	1	1455	1	FYB	5	39201957	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	753508	39201957	141713303	80	112021											
ENC1	8507	broad.mit.edu	37	chr5	73930697	73930697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccaaccacgtagagtttGtttccagaggccacagcatg	9	13	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:73930697G>T	uc003kdc.3	-	2	2745	c.1614C>A	c.(1612-1614)AAC>AAA	p.N538K	ENC1_uc011css.1_Missense_Mutation_p.N465K	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	538	Kelch 5.			YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CGTAGAGTTTGTTTCCAGAGG	0.498													T	73930697	G	T	73930697	3	4	210	1	0	0	0	0	1	0	0	0	5113	1368	48	5	159	5	ENC1	5	73930697	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	34728740	73930697	106984563	81	112022											
IQGAP2	10788	broad.mit.edu	37	chr5	75932871	75932871	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctttagtgtctagtgacgGttcatggctcaaactcaacc	8	10	5	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:75932871G>C	uc003kek.2	+	16	2015	c.1793G>C	c.(1792-1794)GGT>GCT	p.G598A	IQGAP2_uc010izv.2_Missense_Mutation_p.G151A|IQGAP2_uc011csv.1_Missense_Mutation_p.G151A|IQGAP2_uc003kel.2_Missense_Mutation_p.G151A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	598	WW.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCTAGTGACGGTTCATGGCTC	0.328													C	75932871	G	C	75932871	3	2	210	1	0	0	0	0	1	0	0	0	7815	1261	44	5	1855	5	IQGAP2	5	75932871	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	2002174	75932871	104982389	82	112023											
KIF3A	11127	broad.mit.edu	37	chr5	132056402	132056402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacatcaggtctttctTtaacctaaaaaaaaattaag	3	10	3	0	rs17854353		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:132056402T>C	uc003kxo.2	-	5	669	c.515A>G	c.(514-516)AAA>AGA	p.K172R	KIF3A_uc003kxn.2_Missense_Mutation_p.K131R|KIF3A_uc011cxf.1_Missense_Mutation_p.K172R|KIF3A_uc003kxp.2_Missense_Mutation_p.K172R	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	172	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCTTTCTTTAACCTAAAA	0.209													C	132056402	T	C	132056402	3	2	210	1	0	0	0	0	1	0	0	0	8300	1841	64	3	1636	3	KIF3A	5	132056402	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	56123531	132056402	48858858	83	112024											
FBXL21	26223	broad.mit.edu	37	chr5	135276293	135276293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagattcttgtggccaataAtagtgacactctaagactcc	8	9	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:135276293A>G	uc010jec.1	+	4	626	c.605A>G	c.(604-606)AAT>AGT	p.N202S	FBXL21_uc003lbc.2_RNA	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	202	LRR 2.				rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCCAATAATAGTGACACT	0.328													G	135276293	A	G	135276293	3	3	210	1	0	0	0	0	1	0	0	0	5718	101	4	3	615	3	FBXL21	5	135276293	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	3219891	135276293	45638967	84	112025											
ETF1	2107	broad.mit.edu	37	chr5	137854434	137854434	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtaatggctcccaggactGaaaggcggtttactcgtgac	12	9	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:137854434G>A	uc003ldc.3	-	3	374	c.209C>T	c.(208-210)TCA>TTA	p.S70L	ETF1_uc011cyv.1_Missense_Mutation_p.S56L|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.S37L|ETF1_uc010jey.1_5'Flank	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	70					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			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCAGGACTGAAAGGCGGTT	0.403													A	137854434	G	A	137854434	3	1	210	1	0	0	0	0	1	0	0	0	5268	1294	45	4	1140	4	ETF1	5	137854434	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	2578141	137854434	43060826	85	112026											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769109	140769109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtgttagtggacgaccGcaacgacaatgcgccacggg	15	12	0	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:140769109G>A	uc003lkc.1	+	1	1658	c.1658G>A	c.(1657-1659)CGC>CAC	p.R553H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R553H	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	553	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGACGACCGCAACGACAAT	0.677													A	140769109	G	A	140769109	3	1	210	1	0	0	0	0	1	0	0	0	11565	1087	38	1	1660	1	PCDHGB4	5	140769109	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	2914675	140769109	40146151	86	112027											
GLRA1	2741	broad.mit.edu	37	chr5	151234726	151234726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaaagatgaggtcattcAtcgtatatccaactgggatg	9	8	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:151234726A>G	uc003lut.2	-	6	859	c.572T>C	c.(571-573)ATG>ACG	p.M191T	GLRA1_uc003lur.2_Missense_Mutation_p.M191T|GLRA1_uc003lus.2_Missense_Mutation_p.M108T	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	191	Extracellular (Probable).				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			ovary(1)|central_nervous_system(1)	2		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)	GAGGTCATTCATCGTATATCC	0.483													G	151234726	A	G	151234726	3	3	210	1	0	0	0	0	1	0	0	0	6454	217	8	3	817	3	GLRA1	5	151234726	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	10465617	151234726	29680534	87	112028											
FAM71B	153745	broad.mit.edu	37	chr5	156590152	156590152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtaatactgcctgcaaacGccgcactcaagctgctgtct	8	14	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:156590152G>A	uc003lwn.2	-	2	1224	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus				ovary(4)|pancreas(1)|skin(1)	6	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)			GCCTGCAAACGCCGCACTCAA	0.582													A	156590152	G	A	156590152	3	1	210	1	0	0	0	0	1	0	0	0	5608	1087	38	1	697	1	FAM71B	5	156590152	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	5355426	156590152	24325108	88	112029											
ITK	3702	broad.mit.edu	37	chr5	156635914	156635914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacagaagaagcgcacgctGaaggggtccattgagctctc	12	12	1	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr5:156635914G>A	uc003lwo.1	+	2	235	c.153G>A	c.(151-153)CTG>CTA	p.L51L		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	51	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.L51Q(1)		lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCGCACGCTGAAGGGGTCCA	0.428			T	SYK	peripheral T-cell lymphoma								A	156635914	G	A	156635914	2	1	210	1	0	0	0	0	0	0	0	1	7909	1277	45	4		4	ITK	5	156635914	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	45762	156635914	24279346	89	112030											
OR2B2	81697	broad.mit.edu	37	chr6	27879098	27879098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aataggacaacttgcggagaAgttagtaaggtaagtaagca	12	4	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:27879098A>C	uc011dkw.1	-	1	1000	c.1000T>G	c.(1000-1002)TTC>GTC	p.F334V		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	334	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTGCGGAGAAGTTAGTAAGG	0.318													C	27879098	A	C	27879098	3	2	210	1	0	0	0	0	1	0	0	0	10989	72	3	5	77	5	OR2B2	6	27879098	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08		27879098	143235969	90	112031											
OR2B6	26212	broad.mit.edu	37	chr6	27925097	27925098	+	Frame_Shift_Ins	INS	-	-	CTCC													accttggctggagtttccacINStccttgtggtcttcttgatt							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:27925096_27925097A>ACTCC	uc011dkx.2	+	0	78_79	c.78_79A>ACTCC	c.(76-81)ccactcfs	p.P26fs		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	26					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						TGGAGTTTCCACTCCTTGTGGT	0.426													CTCC	27925098	-	CTCC	27925097	7	5	210	1	0	1	1	0	0	0	0	0	10991	565	20	0	81	0	OR2B6	6	27925097	Frame_Shift_Ins	INS	-	TCGA-D7-6526-01A-11D-1800-08	45999	27925097	143189970	91	112032											
MDC1	9656	broad.mit.edu	37	chr6	30680770	30680770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgagccctttccaaatGgacctcagctggccttccag	10	14	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:30680770G>A	uc003nrg.3	-	5	1389	c.949C>T	c.(949-951)CAT>TAT	p.H317Y	MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Missense_Mutation_p.H189Y|MDC1_uc003nrh.1_Missense_Mutation_p.H189Y|MDC1_uc003nri.2_Missense_Mutation_p.H317Y	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	317	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)|ovary(1)|kidney(1)	4						CTTTCCAAATGGACCTCAGCT	0.547								Other_conserved_DNA_damage_response_genes					A	30680770	G	A	30680770	3	1	210	1	0	0	0	0	1	0	0	0	9403	1348	47	4	5364	4	MDC1	6	30680770	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	2755673	30680770	140434297	92	112033											
USP49	25862	broad.mit.edu	37	chr6	41774582	41774582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtcctcaatatagcggCcgcaggccacgtgggagcac	14	13	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:41774582C>A	uc003ori.2	-	4	362	c.140G>T	c.(139-141)GGC>GTC	p.G47V		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	47	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			AATATAGCGGCCGCAGGCCAC	0.592													A	41774582	C	A	41774582	3	1	210	1	0	0	0	0	1	0	0	0	17077	739	26	5	1798	5	USP49	6	41774582	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	11093812	41774582	129340485	93	112034											
KLHDC3	116138	broad.mit.edu	37	chr6	42987057	42987057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactctgtgcaaactggcCgtgattcagtataacctaga	9	9	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:42987057C>T	uc003otl.2	+	10	1204	c.1035C>T	c.(1033-1035)GCC>GCT	p.A345A	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.A321A|KLHDC3_uc003otn.2_Silent_p.A229A|KLHDC3_uc003oto.2_Silent_p.A286A	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	345					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCAAACTGGCCGTGATTCAGT	0.498													T	42987057	C	T	42987057	2	4	210	1	0	0	0	0	0	0	0	1	8357	639	23	1		1	KLHDC3	6	42987057	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1212475	42987057	128128010	94	112035											
FILIP1	27145	broad.mit.edu	37	chr6	76072590	76072590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctccagaacctcaggcTtggttttctctgtcttcagc	9	13	4	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:76072590T>G	uc003pia.2	-	3	693	c.320A>C	c.(319-321)AAG>ACG	p.K107T	FILIP1_uc003phy.1_Missense_Mutation_p.K107T|FILIP1_uc003phz.2_Missense_Mutation_p.K8T|FILIP1_uc010kbe.2_Missense_Mutation_p.K110T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	107										skin(3)|ovary(1)	4						AACCTCAGGCTTGGTTTTCTC	0.512													G	76072590	T	G	76072590	3	3	210	1	0	0	0	0	1	0	0	0	5894	1609	56	5	3337	5	FILIP1	6	76072590	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	33085533	76072590	95042477	95	112036											
LAMA4	3910	broad.mit.edu	37	chr6	112460964	112460964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcttaccgggcacatgGcactgatgtggaggggtcca	14	10	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:112460964G>A	uc003pvu.2	-	23	3409	c.3100C>T	c.(3100-3102)CCA>TCA	p.P1034S	LAMA4_uc003pvv.2_Missense_Mutation_p.P1027S|LAMA4_uc003pvt.2_Missense_Mutation_p.P1027S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1034	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			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		CGGGCACATGGCACTGATGTG	0.423													A	112460964	G	A	112460964	3	1	210	1	0	0	0	0	1	0	0	0	8608	1203	42	2	2439	2	LAMA4	6	112460964	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	36388374	112460964	58654103	96	112037											
ROS1	6098	broad.mit.edu	37	chr6	117632273	117632273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccaaggtgagtaaaggaCcataaaactgtaagaaatga	9	6	0	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:117632273C>T	uc003pxp.1	-	39	6342	c.6143G>A	c.(6142-6144)GGT>GAT	p.G2048D	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2048	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		GAGTAAAGGACCATAAAACTG	0.284			T	GOPC|ROS1	glioblastoma|NSCLC								T	117632273	C	T	117632273	3	4	210	1	0	0	0	0	1	0	0	0	13531	507	18	4	920	4	ROS1	6	117632273	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	5171309	117632273	53482794	97	112038											
UTRN	7402	broad.mit.edu	37	chr6	145073047	145073047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccctctctaaagatgtctCgccagctagatgaccttaat	6	12	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:145073047C>T	uc003qkt.2	+	55	8406	c.8314C>T	c.(8314-8316)CGC>TGC	p.R2772C		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2772	Spectrin 20.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAGATGTCTCGCCAGCTAGA	0.413													T	145073047	C	T	145073047	3	4	210	1	0	0	0	0	1	0	0	0	17100	884	31	1	8532	1	UTRN	6	145073047	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	27440774	145073047	26042020	98	112039											
GRM1	2911	broad.mit.edu	37	chr6	146350944	146350944	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggacccggtcctcctgccCaacatcaccctgggcagtga	11	17	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:146350944C>A	uc010khw.1	+	2	761	c.291C>A	c.(289-291)CCC>CCA	p.P97P	GRM1_uc010khu.1_Silent_p.P97P|GRM1_uc010khv.1_Silent_p.P97P|GRM1_uc003qll.2_Silent_p.P97P|GRM1_uc011edz.1_Silent_p.P97P|GRM1_uc011eea.1_Silent_p.P97P	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	97	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCTCCTGCCCAACATCACCC	0.562													A	146350944	C	A	146350944	2	1	210	1	0	0	0	0	0	0	0	1	6796	581	21	5		5	GRM1	6	146350944	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1277897	146350944	24764123	99	112040											
SYNE1	23345	broad.mit.edu	37	chr6	152804313	152804313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggccacctccgctctGtacagccaggcacctatggt	10	16	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:152804313G>A	uc010kiw.2	-	14	1859	c.1257C>T	c.(1255-1257)TAC>TAT	p.Y419Y	SYNE1_uc003qot.3_Silent_p.Y426Y|SYNE1_uc003qou.3_Silent_p.Y419Y|SYNE1_uc010kjb.1_Silent_p.Y402Y|SYNE1_uc003qpa.1_Silent_p.Y419Y|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	419	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCGCTCTGTACAGCCAGG	0.438										HNSCC(10;0.0054)			A	152804313	G	A	152804313	2	1	210	1	0	0	0	0	0	0	0	1	15442	1372	48	4		4	SYNE1	6	152804313	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	6453369	152804313	18310754	100	112041											
TAGAP	117289	broad.mit.edu	37	chr6	159457507	159457507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttggtcagcacttttttGtgaggggcaaaggtgaaaga	13	4	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:159457507G>T	uc003qrz.2	-	10	1880	c.1548C>A	c.(1546-1548)CAC>CAA	p.H516Q	TAGAP_uc011eft.1_Missense_Mutation_p.H453Q|TAGAP_uc003qsa.2_Missense_Mutation_p.H338Q	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCACTTTTTTGTGAGGGGCAA	0.498													T	159457507	G	T	159457507	3	4	210	1	0	0	0	0	1	0	0	0	15534	1368	48	5	651	5	TAGAP	6	159457507	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	6653194	159457507	11657560	101	112042											
SLC22A2	6582	broad.mit.edu	37	chr6	160679467	160679467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttggtgtccaggctgGccagggggtccacgcagtcg	16	12	0	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr6:160679467G>T	uc003qtf.2	-	1	493	c.323C>A	c.(322-324)GCC>GAC	p.A108D	SLC22A2_uc003qte.1_Missense_Mutation_p.A108D|SLC22A2_uc003qth.1_Missense_Mutation_p.A108D	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	108	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GTCCAGGCTGGCCAGGGGGTC	0.682													T	160679467	G	T	160679467	3	4	210	1	0	0	0	0	1	0	0	0	14450	1203	42	5	1388	5	SLC22A2	6	160679467	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	1221960	160679467	10435600	102	112043											
COL28A1	340267	broad.mit.edu	37	chr7	7572474	7572474	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtaaacgctgacaaaagCaggagatagaagacaaaata	9	7	0	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:7572474C>G	uc003src.1	-	2	150	c.33G>C	c.(31-33)CTG>CTC	p.L11L	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	11					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTGACAAAAGCAGGAGATAGA	0.353													G	7572474	C	G	7572474	2	3	210	1	0	0	0	0	0	0	0	1	3686	697	25	5		5	COL28A1	7	7572474	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08		7572474	151566189	103	112044											
STAG3L4	64940	broad.mit.edu	37	chr7	66773946	66773946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggactatcctctgacaGctccaggtctatcctggaag	12	12	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:66773946G>T	uc003tvt.3	+	3	379	c.112G>T	c.(112-114)GCT>TCT	p.A38S	STAG3L4_uc010laj.2_RNA	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN	stromal antigen 3-like 4	38											0		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCCTCTGACAGCTCCAGGTCT	0.493													T	66773946	G	T	66773946	3	4	210	1	0	0	0	0	1	0	0	0	15246	971	34	5	118	5	STAG3L4	7	66773946	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	59201472	66773946	92364717	104	112045											
ANKIB1	54467	broad.mit.edu	37	chr7	91972459	91972459	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctgggacacgctcccAtctccaagaactccaaggac	8	15	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:91972459A>T	uc003ulw.2	+	6	1285	c.909A>T	c.(907-909)CCA>CCT	p.P303P		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	303							protein binding|zinc ion binding			lung(1)	1	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)			ACACGCTCCCATCTCCAAGAA	0.502													T	91972459	A	T	91972459	2	4	210	1	0	0	0	0	0	0	0	1	630	204	8	5		5	ANKIB1	7	91972459	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	25198513	91972459	67166204	105	112046											
RELN	5649	broad.mit.edu	37	chr7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaattagctgacgccGcccatctttgttgaaaacca	8	10	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:103276725G>A	uc003vca.2	-	18	2420	c.2260C>T	c.(2260-2262)CGG>TGG	p.R754W	RELN_uc010liz.2_Missense_Mutation_p.R754W	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	754					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443													A	103276725	G	A	103276725	3	1	210	1	0	0	0	0	1	0	0	0	13220	1086	38	1	8314	1	RELN	7	103276725	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	11304266	103276725	55861938	106	112047											
DLD	1738	broad.mit.edu	37	chr7	107542829	107542829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaatgttggttgtatTccttctaaggtgagcatgtg	12	5	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:107542829T>G	uc003vet.2	+	4	368	c.258T>G	c.(256-258)ATT>ATG	p.I86M	DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.I86M|DLD_uc011kmh.1_Intron|DLD_uc011kmi.1_Intron	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	86					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	TTGGTTGTATTCCTTCTAAGG	0.373													G	107542829	T	G	107542829	3	3	210	1	0	0	0	0	1	0	0	0	4551	1771	62	5	272	5	DLD	7	107542829	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	4266104	107542829	51595834	107	112048											
PNPLA8	50640	broad.mit.edu	37	chr7	108154736	108154736	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatactcacccttgcgataAtctacaaagacatattaaat	3	10	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:108154736A>C	uc003vff.1	-	5	1465	c.1058T>G	c.(1057-1059)ATT>AGT	p.I353S	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.I353S|PNPLA8_uc003vfi.1_Missense_Mutation_p.I253S|PNPLA8_uc003vfj.1_Missense_Mutation_p.I353S|PNPLA8_uc003vfk.1_Missense_Mutation_p.I253S	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	353					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(2)	2						CCTTGCGATAATCTACAAAGA	0.338													C	108154736	A	C	108154736	3	2	210	1	0	0	0	0	1	0	0	0	12171	115	4	5	1322	5	PNPLA8	7	108154736	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	611907	108154736	50983927	108	112049											
GRM8	2918	broad.mit.edu	37	chr7	126086390	126086390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatactgaagcacttaaacTcatggagacagtaagtgttg	10	6	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:126086390T>C	uc003vlr.2	-	9	2778	c.2467A>G	c.(2467-2469)AGT>GGT	p.S823G	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S823G|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	823	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCACTTAAACTCATGGAGACA	0.368										HNSCC(24;0.065)			C	126086390	T	C	126086390	3	2	210	1	0	0	0	0	1	0	0	0	6803	1551	54	3	317	3	GRM8	7	126086390	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	17931654	126086390	33052273	109	112050											
OR2F2	135948	broad.mit.edu	37	chr7	143632632	143632632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagcccagttatttTtctccctggccttgggtggg	13	11	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:143632632T>G	uc011ktv.1	+	1	307	c.307T>G	c.(307-309)TTC>GTC	p.F103V		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F103F(1)		ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CCAGTTATTTTTCTCCCTGGC	0.542													G	143632632	T	G	143632632	3	3	210	1	0	0	0	0	1	0	0	0	10997	1841	64	5	309	5	OR2F2	7	143632632	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	17546242	143632632	15506031	110	112051											
OR2A2	442361	broad.mit.edu	37	chr7	143807484	143807484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatcaacgagaggagcaggAgaaaatgctgtccctgtttc	11	8	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:143807484A>C	uc011ktz.1	+	1	809	c.809A>C	c.(808-810)GAG>GCG	p.E270A		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GAGGAGCAGGAGAAAATGCTG	0.512													C	143807484	A	C	143807484	3	2	210	1	0	0	0	0	1	0	0	0	10977	304	11	5	811	5	OR2A2	7	143807484	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	174852	143807484	15331179	111	112052											
SSPO	23145	broad.mit.edu	37	chr7	149480254	149480254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgacttcctgacaccagcCggagatgtggaaactagcat	11	11	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:149480254C>T	uc010lpk.2	+	16	2136	c.2136C>T	c.(2134-2136)GCC>GCT	p.A712A	SSPO_uc010lpl.1_Silent_p.A47A	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	712	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGACACCAGCCGGAGATGTGG	0.587													T	149480254	C	T	149480254	2	4	210	1	0	0	0	0	0	0	0	1	15188	639	23	1		1	SSPO	7	149480254	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	5672770	149480254	9658409	112	112053											
DNAJB6	10049	broad.mit.edu	37	chr7	157177590	157177590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgggtcactaggtcacGggggcctcacttcattctct	10	12	5	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr7:157177590G>A	uc003wnk.2	+	7	662	c.508G>A	c.(508-510)GGG>AGG	p.G170R	DNAJB6_uc003wnj.2_Missense_Mutation_p.G170R|DNAJB6_uc003wnl.2_Missense_Mutation_p.G157R|DNAJB6_uc011kvy.1_Missense_Mutation_p.G121R|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.G170R	NM_058246	NP_490647	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	170	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			ovary(2)	2	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)		ACTAGGTCACGGGGGCCTCAC	0.378													A	157177590	G	A	157177590	3	1	210	1	0	0	0	0	1	0	0	0	4624	1116	39	1	530	1	DNAJB6	7	157177590	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	7697336	157177590	1961073	113	112054											
POTEA	340441	broad.mit.edu	37	chr8	43171053	43171053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagacttaaagctgacAtcagaggaagagccacaaag	10	8	1	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:43171053A>G	uc003xpz.1	+	7	967	c.924A>G	c.(922-924)ACA>ACG	p.T308T	POTEA_uc003xqa.1_Silent_p.T262T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	308										ovary(1)	1						TAAAGCTGACATCAGAGGAAG	0.279													G	43171053	A	G	43171053	2	3	210	1	0	0	0	0	0	0	0	1	12261	204	8	3		3	POTEA	8	43171053	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08		43171053	103192969	114	112055											
RP1	6101	broad.mit.edu	37	chr8	55540286	55540286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accccagtgacactttttttCctagtgatggttatggtgtg	10	8	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:55540286C>T	uc003xsd.1	+	4	3992	c.3844C>T	c.(3844-3846)CCT>TCT	p.P1282S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1282					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			skin(7)|ovary(4)|pancreas(1)	12		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)			CACTTTTTTTCCTAGTGATGG	0.408													T	55540286	C	T	55540286	3	4	210	1	0	0	0	0	1	0	0	0	13532	855	30	4	3854	4	RP1	8	55540286	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	12369233	55540286	90823736	115	112056											
MATN2	4147	broad.mit.edu	37	chr8	99006715	99006715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttcttgccagagatagaCtactgtgcctcatctaatca	6	12	4	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:99006715C>A	uc003yic.2	+	7	1320	c.1089C>A	c.(1087-1089)GAC>GAA	p.D363E	MATN2_uc003yib.1_Missense_Mutation_p.D363E|MATN2_uc010mbh.1_Intron|MATN2_uc003yid.2_Missense_Mutation_p.D363E|MATN2_uc003yie.1_Missense_Mutation_p.D363E|MATN2_uc010mbi.1_Missense_Mutation_p.D196E	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	363	EGF-like 4.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAGAGATAGACTACTGTGCCT	0.428													A	99006715	C	A	99006715	3	1	210	1	0	0	0	0	1	0	0	0	9334	564	20	5	1111	5	MATN2	8	99006715	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	43466429	99006715	47357307	116	112057											
ZFPM2	23414	broad.mit.edu	37	chr8	106573610	106573610	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagagctggaggtgtttcaGaaagatggggaacgaaaaat	16	3	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:106573610G>A	uc003ymd.2	+	4	344	c.321G>A	c.(319-321)CAG>CAA	p.Q107Q		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	107					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGTGTTTCAGAAAGATGGGG	0.438													A	106573610	G	A	106573610	2	1	210	1	0	0	0	0	0	0	0	1	17655	933	33	4		4	ZFPM2	8	106573610	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	7566895	106573610	39790412	117	112058											
TMEM74	157753	broad.mit.edu	37	chr8	109796429	109796429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaactctgtacagcaagcGcatcttcctctaccaaggac	6	13	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:109796429G>A	uc003ymy.1	-	2	1004	c.899C>T	c.(898-900)GCG>GTG	p.A300V	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	300					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TACAGCAAGCGCATCTTCCTC	0.358													A	109796429	G	A	109796429	3	1	210	1	0	0	0	0	1	0	0	0	16199	1087	38	1	22	1	TMEM74	8	109796429	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	3222819	109796429	36567593	118	112059											
KCNV1	27012	broad.mit.edu	37	chr8	110986286	110986286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtagtagtgcaggacatatCggaacgcctgcgagctgcgg	16	9	0	0	rs143547134		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:110986286C>T	uc003ynr.3	-	1	674	c.332G>A	c.(331-333)CGA>CAA	p.R111Q	KCNV1_uc010mcw.2_Missense_Mutation_p.R111Q	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	111	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGGACATATCGGAACGCCTG	0.647													T	110986286	C	T	110986286	3	4	210	1	0	0	0	0	1	0	0	0	8094	884	31	1	1182	1	KCNV1	8	110986286	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1189857	110986286	35377736	119	112060											
CSMD3	114788	broad.mit.edu	37	chr8	113249424	113249424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttattgcgatacctgaaAgtagcagctccatgttgcta	8	8	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:113249424A>G	uc003ynu.2	-	67	10781	c.10622T>C	c.(10621-10623)CTT>CCT	p.L3541P	CSMD3_uc003yns.2_Missense_Mutation_p.L2743P|CSMD3_uc003ynt.2_Missense_Mutation_p.L3501P|CSMD3_uc011lhx.1_Missense_Mutation_p.L3372P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3541	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATACCTGAAAGTAGCAGCTC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113249424	A	G	113249424	3	3	210	1	0	0	0	0	1	0	0	0	3946	72	3	3	521	3	CSMD3	8	113249424	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	2263138	113249424	33114598	120	112061											
CSMD3	114788	broad.mit.edu	37	chr8	113349775	113349775	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaagttagaagcataccttCacaccttggaagtggatgat	9	8	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr8:113349775C>T	uc003ynu.2	-	43	6997	c.6838G>A	c.(6838-6840)GAA>AAA	p.E2280K	CSMD3_uc003yns.2_Missense_Mutation_p.E1482K|CSMD3_uc003ynt.2_Missense_Mutation_p.E2240K|CSMD3_uc011lhx.1_Missense_Mutation_p.E2176K|CSMD3_uc003ynw.1_5'UTR	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2280	Extracellular (Potential).|Sushi 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGCATACCTTCACACCTTGGA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113349775	C	T	113349775	3	4	210	1	0	0	0	0	1	0	0	0	3946	835	29	4	4401	4	CSMD3	8	113349775	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	100351	113349775	33014247	121	112062											
MLLT3	4300	broad.mit.edu	37	chr9	20456715	20456720	+	In_Frame_Del	DEL	TAAACT	TAAACT	-													tacataccttgtttttaaaaTaaacttcaattggcaaaatg							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:20456714_20456719ATAAACT>A	uc003zoe.2	-	2	518_523	c.259_264AGTTTAT>T	c.(259-264)gtttat>T	p.VY87del	MLLT3_uc011lne.1_In_Frame_Del_p.VY55del|MLLT3_uc011lnf.1_In_Frame_Del_p.VY84del|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	87	YEATS.				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)		TGTTTTTAAAATAAACTTCAATTGGC	0.32			T	MLL	ALL								-	20456720	TAAACT	-	20456715	7	5	210	1	0	1	0	1	0	0	0	0	9628	1406	49	0	1479	0	MLLT3	9	20456715	In_Frame_Del	DEL	TAAACT	TCGA-D7-6526-01A-11D-1800-08		20456715	120756716	122	112063											
TEK	7010	broad.mit.edu	37	chr9	27203086	27203086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcaacccagccttttcTcatgaactggtgaccctccc	6	16	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:27203086T>C	uc003zqi.3	+	13	2620	c.2178T>C	c.(2176-2178)TCT>TCC	p.S726S	TEK_uc011lno.1_Silent_p.S683S|TEK_uc011lnp.1_Silent_p.S579S|TEK_uc003zqj.1_Silent_p.S660S	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	726	Extracellular (Potential).|Fibronectin type-III 3.				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			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGCCTTTTCTCATGAACTGG	0.478													C	27203086	T	C	27203086	2	2	210	1	0	0	0	0	0	0	0	1	15748	1538	54	3		3	TEK	9	27203086	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	6746371	27203086	114010345	123	112064											
SPINK4	27290	broad.mit.edu	37	chr9	33246723	33246723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccagctctgcttggcccGgatgtaagtctgccccacaa	10	14	2	0	rs140712741		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:33246723G>A	uc003zsh.2	+	3	223	c.212G>A	c.(211-213)CGG>CAG	p.R71Q	SUGT1P1_uc010mjq.1_Intron	NM_014471	NP_055286	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	71	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0			LUSC - Lung squamous cell carcinoma(29;0.00506)			TGCTTGGCCCGGATGTAAGTC	0.542													A	33246723	G	A	33246723	3	1	210	1	0	0	0	0	1	0	0	0	15060	1116	39	1	222	1	SPINK4	9	33246723	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	6043637	33246723	107966708	124	112065											
CA9	768	broad.mit.edu	37	chr9	35675761	35675761	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atactctcccaccccaggcgAcccgccctggccccgggtgt	10	20	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:35675761A>T	uc003zxo.3	+	3	479	c.437A>T	c.(436-438)GAC>GTC	p.D146V	C9orf100_uc003zxl.2_RNA|CA9_uc003zxp.3_Missense_Mutation_p.D146V	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	146	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCCAGGCGACCCGCCCTGG	0.711													T	35675761	A	T	35675761	3	4	210	1	0	0	0	0	1	0	0	0	2524	275	10	5	447	5	CA9	9	35675761	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	2429038	35675761	105537670	125	112066											
MAMDC2	256691	broad.mit.edu	37	chr9	72785543	72785543	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagggagatcacactactggGgtaggtgagttatgccacgt	14	7	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:72785543G>C	uc004ahm.2	+	11	2264	c.1647G>C	c.(1645-1647)GGG>GGC	p.G549G	MAMDC2_uc004ahn.2_RNA|uc004aho.1_Intron|uc004ahp.1_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	549	MAM 4.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						ACACTACTGGGGTAGGTGAGT	0.453													C	72785543	G	C	72785543	2	2	210	1	0	0	0	0	0	0	0	1	9203	1219	43	5		5	MAMDC2	9	72785543	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	37109782	72785543	68427888	126	112067											
FLJ46321	389763	broad.mit.edu	37	chr9	84605815	84605815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatatccagcaactgCtgtcttgggagtccctgaaa	10	11	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:84605815C>A	uc004amn.2	+	4	477	c.430C>A	c.(430-432)CTG>ATG	p.L144M		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	144						integral to membrane					0						CCAGCAACTGCTGTCTTGGGA	0.557													A	84605815	C	A	84605815	3	1	210	1	0	0	0	0	1	0	0	0	5932	796	28	5	444	5	FLJ46321	9	84605815	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	11820272	84605815	56607616	127	112068											
SECISBP2	79048	broad.mit.edu	37	chr9	91954828	91954828	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcatctgaaagaagagacaGaatagagacaccgaaatttc	9	7	1	5			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:91954828G>A	uc004aqj.1	+	9	1342	c.1262G>A	c.(1261-1263)AGA>AAA	p.R421K	SECISBP2_uc011ltk.1_Missense_Mutation_p.R420K|SECISBP2_uc004aqk.1_Missense_Mutation_p.R348K|SECISBP2_uc010mqo.1_Missense_Mutation_p.R126K|SECISBP2_uc011ltl.1_Missense_Mutation_p.R353K	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	421					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						AGAAGAGACAGAATAGAGACA	0.403													A	91954828	G	A	91954828	3	1	210	1	0	0	0	0	1	0	0	0	14006	942	33	4	1296	4	SECISBP2	9	91954828	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	7349013	91954828	49258603	128	112069											
PTCH1	5727	broad.mit.edu	37	chr9	98268846	98268846	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtctctgaaacttcgctctCagccacagcggcgctttccg	9	15	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:98268846C>T	uc004avk.3	-	2	425	c.237G>A	c.(235-237)CTG>CTA	p.L79L	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Silent_p.L13L|PTCH1_uc004avm.3_Silent_p.L78L|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Silent_p.L13L|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	79	Cytoplasmic (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTCGCTCTCAGCCACAGCG	0.592									Basal_Cell_Nevus_syndrome				T	98268846	C	T	98268846	2	4	210	1	0	0	0	0	0	0	0	1	12730	813	29	4		4	PTCH1	9	98268846	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	6314018	98268846	42944585	129	112070											
COL15A1	1306	broad.mit.edu	37	chr9	101797335	101797335	+	Frame_Shift_Del	DEL	A	A	-													gcttacctggacccccggggAaaaagggacaagctggccct							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:101797334_101797334GA>G	uc004azb.1	+	17	2324	c.2118_2118GA>G	c.(2116-2118)gggfs	p.G706fs		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G706G(2)		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)				GACCCCCGGGGAAAAAGGGAC	0.617													-	101797335	A	-	101797335	7	5	210	1	0	1	0	1	0	0	0	0	3672	247	9	0	2189	0	COL15A1	9	101797335	Frame_Shift_Del	DEL	A	TCGA-D7-6526-01A-11D-1800-08	3528489	101797335	39416096	130	112071											
TLR4	7099	broad.mit.edu	37	chr9	120474710	120474710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggggcatatcagagcctaAgccacctctctaccttaata	7	12	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:120474710A>G	uc004bjz.2	+	3	595	c.304A>G	c.(304-306)AGC>GGC	p.S102G	TLR4_uc004bka.2_Missense_Mutation_p.S62G|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	102	Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						TCAGAGCCTAAGCCACCTCTC	0.413													G	120474710	A	G	120474710	3	3	210	1	0	0	0	0	1	0	0	0	15950	72	3	3	314	3	TLR4	9	120474710	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	18677375	120474710	20738721	131	112072											
DBC1	1620	broad.mit.edu	37	chr9	122011416	122011416	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgttcctcaccttccaAcgggcaaactccctgggcag	10	15	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:122011416A>T	uc004bkc.2	-	3	687	c.231T>A	c.(229-231)CGT>CGA	p.R77R	DBC1_uc004bkd.2_Silent_p.R77R	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	77	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						TCACCTTCCAACGGGCAAACT	0.552													T	122011416	A	T	122011416	2	4	210	1	0	0	0	0	0	0	0	1	4247	30	2	5		5	DBC1	9	122011416	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1536706	122011416	19202015	132	112073											
CEL	1056	broad.mit.edu	37	chr9	135942255	135942255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacaacaagggcctcatcCggcgagccatcagccagagc	10	16	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:135942255C>T	uc010naa.1	+	6	725	c.709C>T	c.(709-711)CGG>TGG	p.R237W		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	234					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			pancreas(1)	1				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)		GGGCCTCATCCGGCGAGCCAT	0.632													T	135942255	C	T	135942255	3	4	210	1	0	0	0	0	1	0	0	0	3209	643	23	1	731	1	CEL	9	135942255	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	13930839	135942255	5271176	133	112074											
PHPT1	29085	broad.mit.edu	37	chr9	139744542	139744542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggcggcgggcgcatcTcccaccagagtcaggacaag	15	13	3	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:139744542T>C	uc004cjp.2	+	3	860	c.238T>C	c.(238-240)TCC>CCC	p.S80P	PHPT1_uc011mei.1_Missense_Mutation_p.S80P|PHPT1_uc004cjq.3_Missense_Mutation_p.S80P|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1 isoform 3	80						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CGGGCGCATCTCCCACCAGAG	0.642													C	139744542	T	C	139744542	3	2	210	1	0	0	0	0	1	0	0	0	11860	1551	54	3	244	3	PHPT1	9	139744542	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	3802287	139744542	1468889	134	112075											
ABCA2	20	broad.mit.edu	37	chr9	139903860	139903860	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctgcccaggcaccgcagGcgaccgttcaccatgatggc	12	15	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr9:139903860G>T	uc011mem.1	-	44	6934	c.6786C>A	c.(6784-6786)CGC>CGA	p.R2262R	ABCA2_uc011mel.1_Silent_p.R2263R|ABCA2_uc004ckl.1_Silent_p.R2193R|ABCA2_uc004ckm.1_Silent_p.R2293R	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2262	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				0	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)		GGCACCGCAGGCGACCGTTCA	0.488													T	139903860	G	T	139903860	2	4	210	1	0	0	0	0	0	0	0	1	32	1190	42	5		5	ABCA2	9	139903860	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	159318	139903860	1309571	135	112076											
PRKCQ	5588	broad.mit.edu	37	chr10	6470192	6470192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatatcagccgctccatccCggggttcatgaaggaaaagt	12	10	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:6470192C>T	uc001ijj.1	-	18	2173	c.2098G>A	c.(2098-2100)GGG>AGG	p.G700R	PRKCQ_uc009xim.1_Missense_Mutation_p.G637R|PRKCQ_uc001iji.1_Missense_Mutation_p.G733R|PRKCQ_uc009xin.1_Missense_Mutation_p.G664R|PRKCQ_uc010qax.1_Missense_Mutation_p.G575R	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	700	AGC-kinase C-terminal.			G -> R (in Ref. 1; AAA75571 and 4; AAU29340).	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			ovary(3)|lung(2)|large_intestine(1)	6						CGCTCCATCCCGGGGTTCATG	0.498													T	6470192	C	T	6470192	3	4	210	1	0	0	0	0	1	0	0	0	12515	652	23	1	26	1	PRKCQ	10	6470192	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		6470192	129064555	136	112077											
MLLT10	8028	broad.mit.edu	37	chr10	21962549	21962549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattcacctggagatttggGtaattccagccttcctacag	8	10	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:21962549G>A	uc001iqs.2	+	11	1670	c.1322G>A	c.(1321-1323)GGT>GAT	p.G441D	MLLT10_uc001iqt.2_Missense_Mutation_p.G441D|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.G441D|MLLT10_uc001ira.2_Intron|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Missense_Mutation_p.G196D	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	441	DNA-binding.				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			lung(1)|skin(1)	2						GGAGATTTGGGTAATTCCAGC	0.408			T	MLL|PICALM|CDK6	AL								A	21962549	G	A	21962549	3	1	210	1	0	0	0	0	1	0	0	0	9626	1261	44	4	1360	4	MLLT10	10	21962549	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	15492357	21962549	113572198	137	112078											
ITGB1	3688	broad.mit.edu	37	chr10	33197334	33197334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttctccttttcaaattTagcaaactcccttctgtcat	2	12	4	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:33197334T>C	uc001iws.3	-	15	2429	c.2293A>G	c.(2293-2295)AAA>GAA	p.K765E	ITGB1_uc001iwp.3_Missense_Mutation_p.K765E|ITGB1_uc001iwq.3_Missense_Mutation_p.K765E|ITGB1_uc001iwr.3_Missense_Mutation_p.K765E|ITGB1_uc001iwt.3_Missense_Mutation_p.K765E|ITGB1_uc001iwu.1_Missense_Mutation_p.K765E	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	765	Cytoplasmic (Potential).				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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTTTCAAATTTAGCAAACTCC	0.358													C	33197334	T	C	33197334	3	2	210	1	0	0	0	0	1	0	0	0	7890	1763	61	3	349	3	ITGB1	10	33197334	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	11234785	33197334	102337413	138	112079											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508073	37508073	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttaaaagaaaagaatgctGaacttcagatgaccctaaaa	6	6	1	5			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:37508073G>A	uc001iza.1	+	34	3364	c.3265G>A	c.(3265-3267)GAA>AAA	p.E1089K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1145	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAAGAATGCTGAACTTCAGAT	0.358													A	37508073	G	A	37508073	3	1	210	1	0	0	0	0	1	0	0	0	658	1291	45	4	3399	4	ANKRD30A	10	37508073	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	4310739	37508073	98026674	139	112080											
PCDH15	65217	broad.mit.edu	37	chr10	55566448	55566448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcctccttgatgttcTtactgtcaatcatggactcc	6	13	3	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:55566448T>G	uc010qhq.1	-	36	5335	c.4940A>C	c.(4939-4941)AAG>ACG	p.K1647T	PCDH15_uc010qhr.1_Missense_Mutation_p.K1642T	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTGATGTTCTTACTGTCAAT	0.478										HNSCC(58;0.16)			G	55566448	T	G	55566448	3	3	210	1	0	0	0	0	1	0	0	0	11511	1609	56	5	112	5	PCDH15	10	55566448	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	18058375	55566448	79968299	140	112081											
CTNNA3	29119	broad.mit.edu	37	chr10	68526056	68526056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgttcatgaaatatcGcagcatattcttttatttcc	7	7	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:68526056G>A	uc009xpn.1	-	9	1370	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	CTNNA3_uc001jmw.2_Missense_Mutation_p.A416V|CTNNA3_uc001jmx.3_Missense_Mutation_p.A416V	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	416					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						ATGAAATATCGCAGCATATTC	0.438													A	68526056	G	A	68526056	3	1	210	1	0	0	0	0	1	0	0	0	4014	1087	38	1	1480	1	CTNNA3	10	68526056	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	12959608	68526056	67008691	141	112082											
CTNNA3	29119	broad.mit.edu	37	chr10	68535271	68535272	+	Frame_Shift_Ins	INS	-	-	T													tcagggtattactcctttctINSttttttccagcctgcaaaga							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:68535270_68535271C>CT	uc009xpn.1	-	7	1182_1183	c.1059_1060G>AG	c.(1057-1062)aaagaafs	p.K353fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K353fs|CTNNA3_uc001jmx.4_Frame_Shift_Ins_p.K353fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	353					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						TTACTCCTTTCTTTTTTTCCAG	0.361													T	68535272	-	T	68535271	7	5	210	1	0	1	1	0	0	0	0	0	4014	1606	56	0	1672	0	CTNNA3	10	68535271	Frame_Shift_Ins	INS	-	TCGA-D7-6526-01A-11D-1800-08	9215	68535271	66999476	142	112083	526	2									
CTNNA3	29119	broad.mit.edu	37	chr10	68535278	68535278	+	Missense_Mutation	SNP	C	C	G													tattactcctttctttttttCcagcctgcaaagaagaaaaa							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:68535278C>G	uc009xpn.1	-	8	1175	c.1052G>C	c.(1051-1053)GGA>GCA	p.G351A	CTNNA3_uc001jmw.2_Missense_Mutation_p.G351A|CTNNA3_uc001jmx.3_Missense_Mutation_p.G351A	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	351	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTCTTTTTTTCCAGCCTGCAA	0.358													G	68535278	C	G	68535278	3	3	210	1	0	0	0	0	1	0	0	0	4014	855	30	5	1679	5	CTNNA3	10	68535278	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	7	68535278	66999469	143	112084	526	2									
SMC3	9126	broad.mit.edu	37	chr10	112360880	112360880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaaaagacactatggcacGatcagaaggtgaatttttat	9	5	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:112360880G>A	uc001kze.2	+	23	2762	c.2636G>A	c.(2635-2637)CGA>CAA	p.R879Q		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	879	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACTATGGCACGATCAGAAGGT	0.348													A	112360880	G	A	112360880	3	1	210	1	0	0	0	0	1	0	0	0	14784	1058	37	1	2726	1	SMC3	10	112360880	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	43825602	112360880	23173867	144	112085											
TACC2	10579	broad.mit.edu	37	chr10	124008317	124008317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctagaaggcttccgcaAggtagggctgagtttggggg	18	7	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr10:124008317A>G	uc001lfv.2	+	20	8912	c.8552A>G	c.(8551-8553)AAG>AGG	p.K2851R	TACC2_uc001lfw.2_Missense_Mutation_p.K997R|TACC2_uc009xzx.2_Missense_Mutation_p.K2729R|TACC2_uc010qtv.1_Missense_Mutation_p.K2778R|TACC2_uc001lfx.2_Missense_Mutation_p.K478R|TACC2_uc001lfy.2_Missense_Mutation_p.K474R|TACC2_uc001lfz.2_Missense_Mutation_p.K929R|TACC2_uc001lga.2_Missense_Mutation_p.K899R|TACC2_uc009xzy.2_Missense_Mutation_p.K911R|TACC2_uc001lgb.2_Missense_Mutation_p.K809R	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2851	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCTTCCGCAAGGTAGGGCTG	0.567													G	124008317	A	G	124008317	3	3	210	1	0	0	0	0	1	0	0	0	15499	86	3	3	8698	3	TACC2	10	124008317	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	11647437	124008317	11526430	145	112086											
PNPLA2	57104	broad.mit.edu	37	chr11	821985	821985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcggtttcatccccGtgtactgtgggctcatccct	10	14	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:821985G>A	uc001lrt.2	+	4	650	c.448G>A	c.(448-450)GTG>ATG	p.V150M	PNPLA2_uc009ycl.2_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	150	Lumenal (Potential).|Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity				0		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)		TTTCATCCCCGTGTACTGTGG	0.632													A	821985	G	A	821985	3	1	210	1	0	0	0	0	1	0	0	0	12165	1145	40	1	458	1	PNPLA2	11	821985	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08		821985	134184531	146	112087											
MUC6	4588	broad.mit.edu	37	chr11	1017954	1017961	+	Frame_Shift_Del	DEL	ACGTGAGT	ACGTGAGT	-													aagaggtggagaaaggtggaAcgtgagtgggaagtgtggtc					rs113926343		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:1017953_1017960AACGTGAGT>A	uc001lsw.2	-	30	4892_4899	c.4841_4848ACTCACGTT>T	c.(4840-4848)actcacgttfs	p.T1614fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1614	Approximate repeats.|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)		AGAAAGGTGGAACGTGAGTGGGAAGTGT	0.543													-	1017961	ACGTGAGT	-	1017954	7	5	210	1	0	1	0	1	0	0	0	0	9980	43	2	0	2484	0	MUC6	11	1017954	Frame_Shift_Del	DEL	ACGTGAGT	TCGA-D7-6526-01A-11D-1800-08	195969	1017954	133988562	147	112088											
OR51I1	390063	broad.mit.edu	37	chr11	5462125	5462125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtccataccataggtaAaaatgatcaccaagagccca	7	10	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:5462125A>C	uc010qze.1	-	1	620	c.620T>G	c.(619-621)TTT>TGT	p.F207C	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATAGGTAAAAATGATCAC	0.448													C	5462125	A	C	5462125	3	2	210	1	0	0	0	0	1	0	0	0	11100	14	1	5	328	5	OR51I1	11	5462125	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	4444171	5462125	129544391	148	112089											
ALX4	60529	broad.mit.edu	37	chr11	44297059	44297059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccttgttgctctctgagtCggccttctccaatgggctgg	12	13	2	1	rs140457891		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:44297059C>T	uc001myb.2	-	2	720	c.616G>A	c.(616-618)GAC>AAC	p.D206N		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	206					hair follicle development						0						CTCTCTGAGTCGGCCTTCTCC	0.627													T	44297059	C	T	44297059	3	4	210	1	0	0	0	0	1	0	0	0	558	884	31	1	631	1	ALX4	11	44297059	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	38834934	44297059	90709457	149	112090											
LRP4	4038	broad.mit.edu	37	chr11	46884284	46884284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattccaggatcagtgaacTtggattttttgtgtctttag	9	7	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:46884284T>C	uc001ndn.3	-	37	5404	c.5258A>G	c.(5257-5259)AAG>AGG	p.K1753R	uc001ndl.2_Intron|LRP4_uc001ndm.3_5'UTR	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1753	Cytoplasmic (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		ATCAGTGAACTTGGATTTTTT	0.443													C	46884284	T	C	46884284	3	2	210	1	0	0	0	0	1	0	0	0	8959	1609	56	3	467	3	LRP4	11	46884284	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	2587225	46884284	88122232	150	112091											
OR8J3	81168	broad.mit.edu	37	chr11	55904650	55904650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagataatgctaacagaggtGcaatatcacagtaaaaatga	8	5	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:55904650G>T	uc010riz.1	-	1	545	c.545C>A	c.(544-546)GCA>GAA	p.A182E		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TAACAGAGGTGCAATATCACA	0.328													T	55904650	G	T	55904650	3	4	210	1	0	0	0	0	1	0	0	0	11242	1319	46	5	404	5	OR8J3	11	55904650	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	9020366	55904650	79101866	151	112092											
OR5T2	219464	broad.mit.edu	37	chr11	56000013	56000013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagggatatcacaaaAgacacgcctaatttcattgg	11	7	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:56000013A>G	uc010rjc.1	-	1	649	c.649T>C	c.(649-651)TTT>CTT	p.F217L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	217	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ATATCACAAAAGACACGCCTA	0.423													G	56000013	A	G	56000013	3	3	210	1	0	0	0	0	1	0	0	0	11182	72	3	3	429	3	OR5T2	11	56000013	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	95363	56000013	79006503	152	112093											
OR5M3	219482	broad.mit.edu	37	chr11	56237885	56237885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgatgtagaccacaAgaaagatgatgaagaagaga	13	3	0	9			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:56237885A>G	uc010rjk.1	-	1	89	c.89T>C	c.(88-90)CTT>CCT	p.L30P		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTAGACCACAAGAAAGATGAT	0.438													G	56237885	A	G	56237885	3	3	210	1	0	0	0	0	1	0	0	0	11175	72	3	3	836	3	OR5M3	11	56237885	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	237872	56237885	78768631	153	112094											
ZFP91	80829	broad.mit.edu	37	chr11	58379103	58379103	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaaagccacggagaaaatCagggaaggtaaaagaagaga	12	7	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:58379103C>T	uc001nmx.3	+	6	917	c.749C>T	c.(748-750)TCA>TTA	p.S250L	ZFP91_uc001nmy.3_Missense_Mutation_p.S249L|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	250	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CGGAGAAAATCAgggaaggta	0.189													T	58379103	C	T	58379103	3	4	210	1	0	0	0	0	1	0	0	0	17652	838	29	4	771	4	ZFP91	11	58379103	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	2141218	58379103	76627413	154	112095											
C11orf66	220004	broad.mit.edu	37	chr11	61257335	61257335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagatgccaggaggctaCgccctcagccagccggtcag	12	17	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:61257335C>T	uc001nru.1	+	12	1250	c.1125C>T	c.(1123-1125)TAC>TAT	p.Y375Y	C11orf66_uc009ynq.1_Silent_p.Y355Y	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	375										ovary(1)	1						CAGGAGGCTACGCCCTCAGCC	0.657													T	61257335	C	T	61257335	2	4	210	1	0	0	0	0	0	0	0	1	1656	547	19	1		1	C11orf66	11	61257335	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	2878232	61257335	73749181	155	112096											
FKBP2	2286	broad.mit.edu	37	chr11	64009967	64009967	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagctgcagatcggggtcaaGaagcgggtggaccactgtcc	15	10	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:64009967G>C	uc001nyy.2	+	2	304	c.108G>C	c.(106-108)AAG>AAC	p.K36N	FKBP2_uc010rnh.1_Missense_Mutation_p.K36N|FKBP2_uc001nyz.2_Missense_Mutation_p.K36N	NM_004470	NP_004461	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa precursor	36					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding				0						TCGGGGTCAAGAAGCGGGTGG	0.622													C	64009967	G	C	64009967	3	2	210	1	0	0	0	0	1	0	0	0	5908	933	33	5	110	5	FKBP2	11	64009967	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	2752632	64009967	70996549	156	112097											
SPDYC	387778	broad.mit.edu	37	chr11	64940349	64940349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctgtgtcatccaagtgCccttctctgacctctgaatg	8	13	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:64940349C>T	uc010rnz.1	+	6	711	c.711C>T	c.(709-711)TGC>TGT	p.C237C		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	237					cell cycle	nucleus	protein kinase binding				0						CATCCAAGTGCCCTTCTCTGA	0.602													T	64940349	C	T	64940349	2	4	210	1	0	0	0	0	0	0	0	1	15027	747	26	2		2	SPDYC	11	64940349	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	930382	64940349	70066167	157	112098											
FAT3	120114	broad.mit.edu	37	chr11	92495111	92495111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgacaacaagccccaGttcccagagaaggtctacca	8	12	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:92495111G>T	uc001pdj.3	+	4	3776	c.3759G>T	c.(3757-3759)CAG>CAT	p.Q1253H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1253	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAAGCCCCAGTTCCCAGAGA	0.483										TCGA Ovarian(4;0.039)			T	92495111	G	T	92495111	3	4	210	1	0	0	0	0	1	0	0	0	5691	1020	36	5	3773	5	FAT3	11	92495111	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	27554762	92495111	42511405	158	112099											
PGR	5241	broad.mit.edu	37	chr11	100920672	100920672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcactcacttgtattaagaaGtaacaatactttcatacaga	4	8	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:100920672G>C	uc001pgh.2	-	6	3219	c.2476C>G	c.(2476-2478)CTT>GTT	p.L826V	PGR_uc001pgg.2_Missense_Mutation_p.L207V|PGR_uc001pgi.2_Missense_Mutation_p.L724V|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	826	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			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		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)	GTATTAAGAAGTAACAATACT	0.323													C	100920672	G	C	100920672	3	2	210	1	0	0	0	0	1	0	0	0	11805	1029	36	5	337	5	PGR	11	100920672	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	8425561	100920672	34085844	159	112100											
DYNC2H1	79659	broad.mit.edu	37	chr11	103306730	103306730	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcccttacaatacctgagAggtcttgttgcccgtgccct	9	13	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:103306730A>G	uc001pho.2	+	85	12570	c.12426A>G	c.(12424-12426)AGA>AGG	p.R4142R	DYNC2H1_uc001phn.1_Silent_p.R4149R|DYNC2H1_uc009yxe.1_Silent_p.R755R	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4142					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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATACCTGAGAGGTCTTGTTG	0.413													G	103306730	A	G	103306730	2	3	210	1	0	0	0	0	0	0	0	1	4846	301	11	3		3	DYNC2H1	11	103306730	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	2386058	103306730	31699786	160	112101											
PHLDB1	23187	broad.mit.edu	37	chr11	118498963	118498963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccccgctgcccacccGgaccaccccagatcccaagc	6	23	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:118498963G>A	uc001ptr.1	+	7	1777	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	PHLDB1_uc001pts.2_Missense_Mutation_p.R475Q|PHLDB1_uc001ptt.2_Missense_Mutation_p.R475Q|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R275Q|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	475											0	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)		CTGCCCACCCGGACCACCCCA	0.672													A	118498963	G	A	118498963	3	1	210	1	0	0	0	0	1	0	0	0	11851	1116	39	1	1442	1	PHLDB1	11	118498963	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	15192233	118498963	16507553	161	112102											
ADAMTS8	11095	broad.mit.edu	37	chr11	130288995	130288995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtgctctgggtggcggtCgctgggctggttgaaacgcc	18	9	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:130288995C>T	uc001qgg.3	-	2	1271	c.913G>A	c.(913-915)GAC>AAC	p.D305N		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	305	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	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)		GGGTGGCGGTCGCTGGGCTGG	0.612													T	130288995	C	T	130288995	3	4	210	1	0	0	0	0	1	0	0	0	272	884	31	1	1788	1	ADAMTS8	11	130288995	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	11790032	130288995	4717521	162	112103											
JAM3	83700	broad.mit.edu	37	chr11	134014823	134014823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatgtaccactgcccacGgattccagagccaatcccag	8	14	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr11:134014823G>A	uc001qhb.1	+	5	705	c.681G>A	c.(679-681)ACG>ACA	p.T227T	JAM3_uc009zcz.1_Silent_p.T176T	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	182	Extracellular (Potential).|Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CACTGCCCACGGATTCCAGAG	0.512													A	134014823	G	A	134014823	2	1	210	1	0	0	0	0	0	0	0	1	7944	1103	39	1		1	JAM3	11	134014823	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	3725828	134014823	991693	163	112104											
RECQL	5965	broad.mit.edu	37	chr12	21626568	21626568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgagccatcaacacaCgacgacatctgcaaacacat	6	12	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:21626568C>A	uc001rex.2	-	13	1712	c.1364G>T	c.(1363-1365)CGT>CTT	p.R455L	RECQL_uc001rey.2_Missense_Mutation_p.R455L	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	455					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						CATCAACACACGACGACATCT	0.308								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	21626568	C	A	21626568	3	1	210	1	0	0	0	0	1	0	0	0	13201	536	19	5	601	5	RECQL	12	21626568	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		21626568	112225327	164	112105											
DENND5B	160518	broad.mit.edu	37	chr12	31586168	31586168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgtgcagtggcactcCgacttacccagcgactgaaa	11	13	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:31586168C>T	uc001rki.1	-	8	2213	c.2027G>A	c.(2026-2028)CGG>CAG	p.R676Q	DENND5B_uc001rkh.1_Missense_Mutation_p.R711Q|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.R698Q	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	676						integral to membrane				ovary(1)|central_nervous_system(1)	2						AGTGGCACTCCGACTTACCCA	0.448													T	31586168	C	T	31586168	3	4	210	1	0	0	0	0	1	0	0	0	4437	652	23	1	1853	1	DENND5B	12	31586168	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	9959600	31586168	102265727	165	112106											
YARS2	51067	broad.mit.edu	37	chr12	32908614	32908614	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactcgccgtgccacggtcGaagagctctgggagctctat	12	12	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:32908614G>A	uc001rli.2	-	1	261	c.195C>T	c.(193-195)TTC>TTT	p.F65F		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	65					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity				0	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)	TGCCACGGTCGAAGAGCTCTG	0.592											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	32908614	G	A	32908614	2	1	210	1	0	0	0	0	0	0	0	1	17465	1049	37	1		1	YARS2	12	32908614	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	1322446	32908614	100943281	166	112107											
PKP2	5318	broad.mit.edu	37	chr12	32994053	32994053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccacccagaaaaggggaTgatgatattctccgtcagcg	12	10	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:32994053T>C	uc001rlj.3	-	7	1712	c.1597A>G	c.(1597-1599)ATC>GTC	p.I533V	PKP2_uc001rlk.3_Missense_Mutation_p.I489V|PKP2_uc010skj.1_Missense_Mutation_p.I489V	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	533					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAAGGGGATGATGATATTC	0.418													C	32994053	T	C	32994053	3	2	210	1	0	0	0	0	1	0	0	0	11985	1464	51	3	1080	3	PKP2	12	32994053	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	85439	32994053	100857842	167	112108											
LRRK2	120892	broad.mit.edu	37	chr12	40728856	40728856	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggatgttggtgatggagTtagcctccaagggttccttg	14	9	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:40728856T>G	uc001rmg.3	+	40	5966	c.5845T>G	c.(5845-5847)TTA>GTA	p.L1949V	LRRK2_uc009zjw.2_Missense_Mutation_p.L787V|LRRK2_uc001rmi.2_Missense_Mutation_p.L782V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1949	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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTGATGGAGTTAGCCTCCAA	0.542													G	40728856	T	G	40728856	3	3	210	1	0	0	0	0	1	0	0	0	9033	1722	60	5	6003	5	LRRK2	12	40728856	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	7734803	40728856	93123039	168	112109											
MLL2	8085	broad.mit.edu	37	chr12	49443503	49443503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggagctgcgccgccGccccttctccccctcagctt	12	19	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:49443503G>A	uc001rta.3	-	11	3868	c.3868C>T	c.(3868-3870)CGG>TGG	p.R1290W		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1290	Arg-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTGCGCCGCCGCCCCTTCTCC	0.587			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49443503	G	A	49443503	3	1	210	1	0	0	0	0	1	0	0	0	9621	1086	38	1	12921	1	MLL2	12	49443503	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	8714647	49443503	84408392	169	112110											
KRT71	112802	broad.mit.edu	37	chr12	52943836	52943836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtagtcctccactacGtcccgcacattcctcagctc	5	17	2	0	rs113716134		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:52943836G>A	uc001sao.2	-	2	703	c.633C>T	c.(631-633)GAC>GAT	p.D211D		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	211	Coil 1B.|Rod.						structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCTCCACTACGTCCCGCACAT	0.612													A	52943836	G	A	52943836	2	1	210	1	0	0	0	0	0	0	0	1	8484	1136	40	1		1	KRT71	12	52943836	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	3500333	52943836	80908059	170	112111											
TENC1	23371	broad.mit.edu	37	chr12	53454673	53454673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaggagtccagggggcCactcagatggcgccagtcct	15	11	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:53454673C>T	uc001sbp.2	+	20	3118	c.2983C>T	c.(2983-2985)CAC>TAC	p.H995Y	TENC1_uc001sbl.2_Missense_Mutation_p.H871Y|TENC1_uc001sbn.2_Missense_Mutation_p.H1005Y|TENC1_uc001sbq.2_Missense_Mutation_p.H393Y|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.H490Y|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	995	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						TCCAGGGGGCCACTCAGATGG	0.701													T	53454673	C	T	53454673	3	4	210	1	0	0	0	0	1	0	0	0	15755	594	21	4	3170	4	TENC1	12	53454673	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	510837	53454673	80397222	171	112112											
LRP1	4035	broad.mit.edu	37	chr12	57605723	57605723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccagatatagcctccatCctaatccctctgctgttgct	5	16	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:57605723C>T	uc001snd.2	+	87	13738	c.13272C>T	c.(13270-13272)ATC>ATT	p.I4424I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4424	Helical; (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TAGCCTCCATCCTAATCCCTC	0.592													T	57605723	C	T	57605723	2	4	210	1	0	0	0	0	0	0	0	1	8951	845	30	4		4	LRP1	12	57605723	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	4151050	57605723	76246172	172	112113											
C12orf12	196477	broad.mit.edu	37	chr12	91348076	91348076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggtggtggcgcaggccGcggcctctgcggccccagcg	19	15	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:91348076G>A	uc001tbj.2	-	1	878	c.444C>T	c.(442-444)CGC>CGT	p.R148R		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	148										central_nervous_system(1)|pancreas(1)	2						GGCGCAGGCCGCGGCCTCTGC	0.697													A	91348076	G	A	91348076	2	1	210	1	0	0	0	0	0	0	0	1	1676	1074	38	1		1	C12orf12	12	91348076	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	33742353	91348076	42503819	173	112114											
LUM	4060	broad.mit.edu	37	chr12	91502123	91502123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcttattgttgtctaAgtagagagttagaagagaga	12	3	2	5			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:91502123A>C	uc001tbm.2	-	2	1023	c.634T>G	c.(634-636)TTA>GTA	p.L212V	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	212	LRR 7.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						TTGTTGTCTAAGTAGAGAGTT	0.413													C	91502123	A	C	91502123	3	2	210	1	0	0	0	0	1	0	0	0	9085	69	3	5	390	5	LUM	12	91502123	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	154047	91502123	42349772	174	112115											
GAS2L3	283431	broad.mit.edu	37	chr12	100995421	100995421	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatgtttttaggtattAaagttaaggcagaaaaatta	8	1	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:100995421A>T	uc001thu.2	+	5	419	c.193A>T	c.(193-195)AAA>TAA	p.K65*	GAS2L3_uc009zty.2_Nonsense_Mutation_p.K65*|GAS2L3_uc001thv.2_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	65	CH.				cell cycle arrest					skin(1)	1						TTTAGGTATTAAAGTTAAGGC	0.269													T	100995421	A	T	100995421	4	4	210	1	0	0	0	0	0	1	0	0	6248	363	13	5	203	5	GAS2L3	12	100995421	Nonsense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	9493298	100995421	32856474	175	112116											
GNPTAB	79158	broad.mit.edu	37	chr12	102155373	102155373	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttgcataacaatccggtCaatcatgtgaggcatgtgag	10	8	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:102155373C>T	uc001tit.2	-	14	3063	c.2884G>A	c.(2884-2886)GAC>AAC	p.D962N		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	962					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						ACAATCCGGTCAATCATGTGA	0.383													T	102155373	C	T	102155373	3	4	210	1	0	0	0	0	1	0	0	0	6545	826	29	4	918	4	GNPTAB	12	102155373	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1159952	102155373	31696522	176	112117											
RBM19	9904	broad.mit.edu	37	chr12	114390388	114390388	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgccaggaattccataAcatttttctgtgagaagaag	12	6	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr12:114390388A>T	uc009zwi.2	-	8	1073	c.929T>A	c.(928-930)GTT>GAT	p.V310D	RBM19_uc001tvn.3_Missense_Mutation_p.V310D|RBM19_uc001tvm.2_Missense_Mutation_p.V310D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	310	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAATTCCATAACATTTTTCTG	0.408													T	114390388	A	T	114390388	3	4	210	1	0	0	0	0	1	0	0	0	13121	43	2	5	2021	5	RBM19	12	114390388	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	12235015	114390388	19461507	177	112118											
PCDH17	27253	broad.mit.edu	37	chr13	58299162	58299162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaagcagtcagtacTtgcccactgacagtcaatat	8	11	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:58299162T>C	uc001vhq.1	+	4	4106	c.3214T>C	c.(3214-3216)TTG>CTG	p.L1072L	PCDH17_uc010aec.1_Silent_p.L1071L|PCDH17_uc001vhr.1_Silent_p.L161L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1072	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532													C	58299162	T	C	58299162	2	2	210	1	0	0	0	0	0	0	0	1	11512	1606	56	3		3	PCDH17	13	58299162	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08		58299162	56870716	178	112119											
MYO16	23026	broad.mit.edu	37	chr13	109793645	109793645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcagcagccccctggaCgagctcgccagcctcttcaa	8	19	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:109793645C>T	uc001vqt.1	+	32	5145	c.5019C>T	c.(5017-5019)GAC>GAT	p.D1673D	MYO16_uc010agk.1_Silent_p.D1695D	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1673					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			GCCCCCTGGACGAGCTCGCCA	0.667													T	109793645	C	T	109793645	2	4	210	1	0	0	0	0	0	0	0	1	10064	535	19	1		1	MYO16	13	109793645	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	51494483	109793645	5376233	179	112120											
ATP11A	23250	broad.mit.edu	37	chr13	113512571	113512571	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcatttttattacattagGatctctgagctcgtgcagta	10	7	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:113512571G>A	uc001vsi.3	+	22	2722	c.2634G>A	c.(2632-2634)AGG>AGA	p.R878R	ATP11A_uc001vsj.3_Silent_p.R878R|ATP11A_uc001vsm.1_Silent_p.R754R|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	878	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R878R(1)		large_intestine(2)|ovary(2)	4	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)				ATTACATTAGGATCTCTGAGC	0.522													A	113512571	G	A	113512571	2	1	210	1	0	0	0	0	0	0	0	1	1119	1165	41	4		4	ATP11A	13	113512571	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	3718926	113512571	1657307	180	112121											
ATP4B	496	broad.mit.edu	37	chr13	114304735	114304735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacctgggctttcttccCgtaataagggaagtagtgca	10	10	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr13:114304735C>T	uc001vtz.2	-	6	742	c.700G>A	c.(700-702)GGG>AGG	p.G234R		NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	234	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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;0.171)		Rabeprazole(DB01129)	GCTTTCTTCCCGTAATAAGGG	0.577													T	114304735	C	T	114304735	3	4	210	1	0	0	0	0	1	0	0	0	1146	652	23	1	183	1	ATP4B	13	114304735	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	792164	114304735	865143	181	112122											
OR4K2	390431	broad.mit.edu	37	chr14	20344477	20344477	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaatttgttttgctggggctCtctaattcctgggaactaca	10	8	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:20344477C>T	uc001vwh.1	+	1	51	c.51C>T	c.(49-51)CTC>CTT	p.L17L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCTGGGGCTCTCTAATTCCT	0.378													T	20344477	C	T	20344477	2	4	210	1	0	0	0	0	0	0	0	1	11072	900	32	4		4	OR4K2	14	20344477	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08		20344477	87005063	182	112123											
OR4N5	390437	broad.mit.edu	37	chr14	20612797	20612797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcttccatgaggaagttGttaagtcaacatatgttttg	9	5	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:20612797G>T	uc010tla.1	+	1	903	c.903G>T	c.(901-903)TTG>TTT	p.L301F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGAGGAAGTTGTTAAGTCAAC	0.373													T	20612797	G	T	20612797	3	4	210	1	0	0	0	0	1	0	0	0	11079	1368	48	5	905	5	OR4N5	14	20612797	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	268320	20612797	86736743	183	112124											
SLC7A8	23428	broad.mit.edu	37	chr14	23635621	23635621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgaccccgagttcagCatagcagagggctcccacaa	12	12	1	2	rs139927895	byFrequency	TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:23635621C>T	uc001wiz.2	-	2	1006	c.280G>A	c.(280-282)GCT>ACT	p.A94T	SLC7A8_uc010akj.2_Missense_Mutation_p.A94T	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	94					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			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCGAGTTCAGCATAGCAGAGG	0.552													T	23635621	C	T	23635621	3	4	210	1	0	0	0	0	1	0	0	0	14704	710	25	2	1367	2	SLC7A8	14	23635621	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	3022824	23635621	83713919	184	112125											
C14orf39	317761	broad.mit.edu	37	chr14	60903742	60903742	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtaaagccatcttctcCttctggcttctcaagtaagt	6	10	4	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:60903742C>A	uc001xez.3	-	18	1695	c.1585G>T	c.(1585-1587)GGA>TGA	p.G529*	C14orf39_uc010apo.2_Nonsense_Mutation_p.G240*	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	529										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CCATCTTCTCCTTCTGGCTTC	0.318													A	60903742	C	A	60903742	4	1	210	1	0	0	0	0	0	1	0	0	1772	690	24	5	182	5	C14orf39	14	60903742	Nonsense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	37268121	60903742	46445798	185	112126											
SPATA7	55812	broad.mit.edu	37	chr14	88904692	88904694	+	In_Frame_Del	DEL	AAT	AAT	-													tctccagtgtcaaaggcgacAataatcatgacatggagtta							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr14:88904691_88904693CAAT>C	uc001xwq.3	+	11	2146_2148	c.1725_1727CAAT>C	c.(1723-1728)gacaat>gaCt	p.N577del	SPATA7_uc001xwr.3_In_Frame_Del_p.N545del|SPATA7_uc001xws.3_In_Frame_Del_p.N513del|SPATA7_uc001xwt.3_In_Frame_Del_p.N471del|SPATA7_uc001xwu.3_In_Frame_Del_p.N92del	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	577					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TCAAAGGCGACAATAATCATGAC	0.384													-	88904694	AAT	-	88904692	7	5	210	1	0	1	0	1	0	0	0	0	15013	130	5	0	1772	0	SPATA7	14	88904692	In_Frame_Del	DEL	AAT	TCGA-D7-6526-01A-11D-1800-08	28000950	88904692	18444848	186	112127											
OR4N4	283694	broad.mit.edu	37	chr15	22382668	22382668	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatttatttctgggcaacTtggccttcctggatgcatcc	8	11	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:22382668T>C	uc001yuc.1	+	7	1177	c.196T>C	c.(196-198)TTG>CTG	p.L66L	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.L66L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		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)		TCTGGGCAACTTGGCCTTCCT	0.468													C	22382668	T	C	22382668	2	2	210	1	0	0	0	0	0	0	0	1	11078	1606	56	3		3	OR4N4	15	22382668	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08		22382668	80148724	187	112128											
VPS39	23339	broad.mit.edu	37	chr15	42479994	42479994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccttccagaaatagaGctgcagcttcttttttactg	7	11	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:42479994G>A	uc001zpd.2	-	7	587	c.436C>T	c.(436-438)CTC>TTC	p.L146F	VPS39_uc001zpc.2_Missense_Mutation_p.L135F	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	146	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		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)		CAGAAATAGAGCTGCAGCTTC	0.493													A	42479994	G	A	42479994	3	1	210	1	0	0	0	0	1	0	0	0	17206	971	34	2	2304	2	VPS39	15	42479994	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	20097326	42479994	60051398	188	112129											
TGM5	9333	broad.mit.edu	37	chr15	43552280	43552280	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggattgaaaagcaggatgaActcccctagctggtaggccg	14	9	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:43552280A>C	uc001zrd.1	-	3	414	c.406T>G	c.(406-408)TTC>GTC	p.F136V	TGM5_uc001zre.1_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	136					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		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)	AGCAGGATGAACTCCCCTAGC	0.607													C	43552280	A	C	43552280	3	2	210	1	0	0	0	0	1	0	0	0	15830	43	2	5	1800	5	TGM5	15	43552280	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1072286	43552280	58979112	189	112130											
SLTM	79811	broad.mit.edu	37	chr15	59192084	59192084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagctaggctcccttcTgaaggaagaggtttagatac	11	10	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:59192084T>C	uc002afp.2	-	7	730	c.642A>G	c.(640-642)TCA>TCG	p.S214S	SLTM_uc002afo.2_Splice_Site_p.E197_splice|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Intron	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	214	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						GGCTCCCTTCTGAAGGAAGAG	0.423													C	59192084	T	C	59192084	2	2	210	1	0	0	0	0	0	0	0	1	14754	1594	55	3		3	SLTM	15	59192084	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	15639804	59192084	43339308	190	112131											
RORA	6095	broad.mit.edu	37	chr15	60806883	60806883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagcggtttctactggttCgatcaatcaaacagttcttc	9	10	4	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr15:60806883C>T	uc002agv.2	-	5	611	c.455G>A	c.(454-456)CGA>CAA	p.R152Q	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R64Q|RORA_uc002agw.2_Missense_Mutation_p.R144Q|RORA_uc002agx.2_Missense_Mutation_p.R119Q	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	152	NR C4-type.|Nuclear receptor.				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			large_intestine(1)|ovary(1)	2						TCTACTGGTTCGATCAATCAA	0.453													T	60806883	C	T	60806883	3	4	210	1	0	0	0	0	1	0	0	0	13528	884	31	1	1247	1	RORA	15	60806883	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1614799	60806883	41724509	191	112132											
TMEM8A	58986	broad.mit.edu	37	chr16	427758	427758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagcatctgggggcacgCggaagcggaagagcctggca	17	11	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:427758C>T	uc002cgu.3	-	2	341	c.212G>A	c.(211-213)CGC>CAC	p.R71H	TMEM8A_uc002cgv.3_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	71	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						TGGGGGCACGCGGAAGCGGAA	0.672													T	427758	C	T	427758	3	4	210	1	0	0	0	0	1	0	0	0	16211	768	27	1	2151	1	TMEM8A	16	427758	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		427758	89926995	192	112133											
PRSS22	64063	broad.mit.edu	37	chr16	2903991	2903996	+	In_Frame_Del	DEL	GCTTCT	GCTTCT	-													gtcgatgataggaaccttcaGcttctgcagggtctgagggt							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:2903990_2903995AGCTTCT>A	uc002cry.1	-	4	654_659	c.588_593AGAAGCT>T	c.(586-594)cagaagctg>caTg	p.196_198QKL>H		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	196	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGGAACCTTCAGCTTCTGCAGGGTCT	0.583													-	2903996	GCTTCT	-	2903991	7	5	210	1	0	1	0	1	0	0	0	0	12619	962	34	0	369	0	PRSS22	16	2903991	In_Frame_Del	DEL	GCTTCT	TCGA-D7-6526-01A-11D-1800-08	2476233	2903991	87450762	193	112134											
A2BP1	54715	broad.mit.edu	37	chr16	7703854	7703854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagccaccgccgcggcCgcctaccgaggggcgcacct	13	20	0	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:7703854C>T	uc002cys.2	+	12	1783	c.795C>T	c.(793-795)GCC>GCT	p.A265A	A2BP1_uc010buf.1_Silent_p.A265A|A2BP1_uc002cyr.1_Silent_p.A264A|A2BP1_uc002cyt.2_Silent_p.A238A|A2BP1_uc010uxz.1_Silent_p.A308A|A2BP1_uc010uya.1_Silent_p.A222A|A2BP1_uc002cyv.1_Silent_p.A265A|A2BP1_uc010uyb.1_Silent_p.A265A|A2BP1_uc002cyw.2_Silent_p.A285A|A2BP1_uc002cyy.2_Silent_p.A285A|A2BP1_uc002cyx.2_Silent_p.A285A|A2BP1_uc010uyc.1_Silent_p.A258A	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	265					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		CCGCCGCGGCCGCCTACCGAG	0.592													T	7703854	C	T	7703854	2	4	210	1	0	0	0	0	0	0	0	1	3	639	23	1		1	A2BP1	16	7703854	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	4799863	7703854	82650899	194	112135											
DNAH3	55567	broad.mit.edu	37	chr16	21080793	21080793	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaatttcctcccctcTtctggcatctgggctatgat	7	13	3	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:21080793T>A	uc010vbe.1	-	23	3324	c.3324A>T	c.(3322-3324)GAA>GAT	p.E1108D		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1108	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCCTCCCCTCTTCTGGCATCT	0.433													A	21080793	T	A	21080793	3	1	210	1	0	0	0	0	1	0	0	0	4603	1606	56	5	9185	5	DNAH3	16	21080793	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	13376939	21080793	69273960	195	112136											
COG7	91949	broad.mit.edu	37	chr16	23421679	23421679	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctccacaggtggctattAtcctaaacaaaacaaaaagc	6	11	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:23421679A>C	uc002dlo.2	-	11	1600	c.1412T>G	c.(1411-1413)ATA>AGA	p.I471R		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	471					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				0				GBM - Glioblastoma multiforme(48;0.0401)		GGTGGCTATTATCCTAAACAA	0.448													C	23421679	A	C	23421679	3	2	210	1	0	0	0	0	1	0	0	0	3663	449	16	5	928	5	COG7	16	23421679	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	2340886	23421679	66933074	196	112137											
ASPHD1	253982	broad.mit.edu	37	chr16	29913170	29913170	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttcggcaatgccggcttttCcgttctcctgcctggggccc	11	16	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:29913170C>G	uc002dut.2	+	1	1024	c.878C>G	c.(877-879)TCC>TGC	p.S293C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	293	Lumenal (Potential).				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				0						GCCGGCTTTTCCGTTCTCCTG	0.652													G	29913170	C	G	29913170	3	3	210	1	0	0	0	0	1	0	0	0	1054	855	30	5	880	5	ASPHD1	16	29913170	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	6491491	29913170	60441583	197	112138											
TRIM72	493829	broad.mit.edu	37	chr16	31232220	31232220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctctctctccagaaaTactgcctggtgaccagcagg	8	12	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:31232220T>C	uc002ebn.1	+	5	950	c.721T>C	c.(721-723)TAC>CAC	p.Y241H		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	241					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						TCTCCAGAAATACTGCCTGGT	0.542													C	31232220	T	C	31232220	3	2	210	1	0	0	0	0	1	0	0	0	16542	1406	49	3	735	3	TRIM72	16	31232220	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	1319050	31232220	59122533	198	112139											
CNGB1	1258	broad.mit.edu	37	chr16	57953078	57953078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacttgcagcagagcatgtCgcaatagtgctcctcttcca	9	12	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:57953078C>T	uc002emt.2	-	20	1947	c.1882G>A	c.(1882-1884)GAC>AAC	p.D628N	CNGB1_uc010cdh.2_Missense_Mutation_p.D622N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	628	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAGAGCATGTCGCAATAGTGC	0.577													T	57953078	C	T	57953078	3	4	210	1	0	0	0	0	1	0	0	0	3600	884	31	1	1929	1	CNGB1	16	57953078	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	26720858	57953078	32401675	199	112140											
FTSJD1	55783	broad.mit.edu	37	chr16	71318662	71318662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcagcttttcttgttccgCctttcccatgcactcaaata	4	13	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr16:71318662C>A	uc010cga.2	-	3	1568	c.1162G>T	c.(1162-1164)GCG>TCG	p.A388S	FTSJD1_uc002ezy.3_Missense_Mutation_p.A388S|FTSJD1_uc002ezz.3_Missense_Mutation_p.A388S	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	388						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						TCTTGTTCCGCCTTTCCCATG	0.313													A	71318662	C	A	71318662	3	1	210	1	0	0	0	0	1	0	0	0	6090	739	26	5	1154	5	FTSJD1	16	71318662	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	13365584	71318662	19036091	200	112141											
PRPF8	10594	broad.mit.edu	37	chr17	1562830	1562830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttctgggtggtggtgctGtccatcacatccctgaggat	12	9	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:1562830G>A	uc002fte.2	-	32	5073	c.4959C>T	c.(4957-4959)GAC>GAT	p.D1653D		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1653						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGTGGTGCTGTCCATCACAT	0.517													A	1562830	G	A	1562830	2	1	210	1	0	0	0	0	0	0	0	1	12575	1368	48	4		4	PRPF8	17	1562830	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08		1562830	79632380	201	112142											
TP53	7157	broad.mit.edu	37	chr17	7573993	7573994	+	Frame_Shift_Ins	INS	-	-	TCAGC													cttgagttccaaggcctcatINStcagctctcggaacatctcg							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:7573993_7573994insTCAGC	uc002gim.2	-	10	1227_1228	c.1033_1034insGCTGA	c.(1033-1035)AATfs	p.N345fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Ins_p.N213fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Ins_p.N345fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	345	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.				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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.N345fs*25(3)|p.L344fs*23(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CAAGGCCTCATTCAGCTCTCGG	0.53		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			TCAGC	7573994	-	TCAGC	7573993	7	5	210	1	0	1	1	0	0	0	0	0	16378	1493	52	0	155	0	TP53	17	7573993	Frame_Shift_Ins	INS	-	TCGA-D7-6526-01A-11D-1800-08	6011163	7573993	73621217	202	112143	527	2									
TP53	7157	broad.mit.edu	37	chr17	7573994	7573995	+	Frame_Shift_Ins	INS	-	-	TCAGC													ttgagttccaaggcctcattINScagctctcggaacatctcga							TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:7573993_7573994T>TTCAGC	uc002gim.2	-	9	1227_1228	c.1033_1034A>GCTGAA	c.(1033-1035)aatfs	p.N345fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Ins_p.N213fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Ins_p.N345fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	345	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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.N345fs*25(5)|p.L344fs*23(3)|p.L344P(3)|p.L344fs*22(2)|p.R342_N345delRELN(2)|p.L344R(2)|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)		CAAGGCCTCATTCAGCTCTCGG	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)			TCAGC	7573995	-	TCAGC	7573994	7	5	210	1	0	1	1	0	0	0	0	0	16378	1783	62	0	156	0	TP53	17	7573994	Frame_Shift_Ins	INS	-	TCGA-D7-6526-01A-11D-1800-08	1	7573994	73621216	203	112144	527	2									
TRIM16	10626	broad.mit.edu	37	chr17	15539554	15539554	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttccccaaactgcatttcAgccaccgctttgacctctga	6	15	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:15539554A>G	uc002gox.2	-	6	1202	c.645T>C	c.(643-645)GCT>GCC	p.A215A	TRIM16_uc002gor.1_Silent_p.A215A|TRIM16_uc002gow.2_5'UTR|TRIM16_uc002goy.2_Silent_p.A85A	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	215					histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACTGCATTTCAGCCACCGCTT	0.552													G	15539554	A	G	15539554	2	3	210	1	0	0	0	0	0	0	0	1	16488	175	7	3		3	TRIM16	17	15539554	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	7965560	15539554	65655656	204	112145											
KIAA0100	9703	broad.mit.edu	37	chr17	26961094	26961094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggtaccgtggatagtcCctgatccgaactgttaccag	10	11	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:26961094C>T	uc002hbu.2	-	17	3180	c.3081G>A	c.(3079-3081)AGG>AGA	p.R1027R		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1027						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GTGGATAGTCCCTGATCCGAA	0.557													T	26961094	C	T	26961094	2	4	210	1	0	0	0	0	0	0	0	1	8154	622	22	4		4	KIAA0100	17	26961094	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	11421540	26961094	54234116	205	112146											
SYNRG	11276	broad.mit.edu	37	chr17	35945511	35945511	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttttctttcttcttctaaGagtttttgctgctgttcaaa	5	8	5	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:35945511G>A	uc002hoa.2	-	5	482	c.399C>T	c.(397-399)CTC>CTT	p.L133L	SYNRG_uc010wde.1_Silent_p.L133L|SYNRG_uc010wdf.1_Silent_p.L133L|SYNRG_uc002hoc.2_Silent_p.L132L|SYNRG_uc002hoe.2_Silent_p.L133L|SYNRG_uc002hod.2_Silent_p.L133L|SYNRG_uc010wdg.1_Silent_p.L133L|SYNRG_uc002hob.2_Silent_p.L133L|SYNRG_uc002hog.1_Silent_p.L166L|SYNRG_uc010wdh.1_Silent_p.L133L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	133	Potential.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CTTCTTCTAAGAGTTTTTGCT	0.368													A	35945511	G	A	35945511	2	1	210	1	0	0	0	0	0	0	0	1	15457	929	33	4		4	SYNRG	17	35945511	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	8984417	35945511	45249699	206	112147											
CWC25	54883	broad.mit.edu	37	chr17	36977249	36977249	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaatcttcttccgctcAgcctcatgcttctgctcggc	6	17	6	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:36977249A>C	uc002hqu.2	-	2	249	c.96T>G	c.(94-96)GCT>GCG	p.A32A	CWC25_uc010wdv.1_5'UTR|CWC25_uc010wdx.1_RNA	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	32	Potential.										0						TCTTCCGCTCAGCCTCATGCT	0.547													C	36977249	A	C	36977249	2	2	210	1	0	0	0	0	0	0	0	1	4069	175	7	5		5	CWC25	17	36977249	Silent	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1031738	36977249	44217961	207	112148											
EPN3	55040	broad.mit.edu	37	chr17	48618642	48618642	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccagaatccacagagacCaaggaggggctggagcaggc	14	12	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr17:48618642C>A	uc002ira.3	+	8	1737	c.1302C>A	c.(1300-1302)ACC>ACA	p.T434T	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Silent_p.T462T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.T407T	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	434						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCACAGAGACCAAGGAGGGGC	0.612													A	48618642	C	A	48618642	2	1	210	1	0	0	0	0	0	0	0	1	5187	581	21	5		5	EPN3	17	48618642	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	11641393	48618642	32576568	208	112149											
EPB41L3	23136	broad.mit.edu	37	chr18	5489118	5489118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcccctgcgcccccgccGcctcctggggctcggcctcc	12	24	0	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:5489118G>A	uc002kmt.1	-	2	151	c.65C>T	c.(64-66)GCG>GTG	p.A22V	EPB41L3_uc010wzh.1_Missense_Mutation_p.A22V|EPB41L3_uc002kmu.1_Missense_Mutation_p.A22V|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.A44V|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	22					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						cgcccccgccgccTCCTGGGG	0.517													A	5489118	G	A	5489118	3	1	210	1	0	0	0	0	1	0	0	0	5154	1087	38	1	3282	1	EPB41L3	18	5489118	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08		5489118	72588130	209	112150											
LAMA1	284217	broad.mit.edu	37	chr18	7017344	7017344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccggtctcaagatggCacacggcagaatgggagcct	14	11	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:7017344C>T	uc002knm.2	-	20	2835	c.2741G>A	c.(2740-2742)TGC>TAC	p.C914Y	LAMA1_uc010wzj.1_Missense_Mutation_p.C390Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	914	Laminin EGF-like 9.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAAGATGGCACACGGCAGA	0.478													T	7017344	C	T	7017344	3	4	210	1	0	0	0	0	1	0	0	0	8605	710	25	2	6662	2	LAMA1	18	7017344	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	1528226	7017344	71059904	210	112151											
ASXL3	80816	broad.mit.edu	37	chr18	31323104	31323104	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagggtggaaagacgagaActctggcacacatcaaagag	14	7	2	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:31323104A>C	uc010dmg.1	+	12	3347	c.3292A>C	c.(3292-3294)ACT>CCT	p.T1098P	ASXL3_uc002kxq.2_Missense_Mutation_p.T805P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1098					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAAGACGAGAACTCTGGCACA	0.572													C	31323104	A	C	31323104	3	2	210	1	0	0	0	0	1	0	0	0	1068	43	2	5	3338	5	ASXL3	18	31323104	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	24305760	31323104	46754144	211	112152											
CBLN2	147381	broad.mit.edu	37	chr18	70209211	70209211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacaccaccaggcacttgCcctccagcacgatgggctcc	9	19	0	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr18:70209211C>T	uc002lku.2	-	2	420	c.185G>A	c.(184-186)GGC>GAC	p.G62D	CBLN2_uc002lkv.2_Missense_Mutation_p.G62D	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	62						integral to membrane					0		Esophageal squamous(42;0.131)				CAGGCACTTGCCCTCCAGCAC	0.716													T	70209211	C	T	70209211	3	4	210	1	0	0	0	0	1	0	0	0	2705	739	26	2	501	2	CBLN2	18	70209211	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	38886107	70209211	7868037	212	112153											
ZNF536	9745	broad.mit.edu	37	chr19	30935982	30935982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatccagctgcatcgagCggctgcaggcggctgccaag	14	12	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:30935982C>T	uc002nsu.1	+	2	1651	c.1513C>T	c.(1513-1515)CGG>TGG	p.R505W	ZNF536_uc010edd.1_Missense_Mutation_p.R505W	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CTGCATCGAGCGGCTGCAGGC	0.647													T	30935982	C	T	30935982	3	4	210	1	0	0	0	0	1	0	0	0	17971	759	27	1	1515	1	ZNF536	19	30935982	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		30935982	28193001	213	112154											
FFAR2	2867	broad.mit.edu	37	chr19	35941123	35941123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctacgagaacttcacCgataaccagttggacgtggt	10	11	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:35941123C>T	uc002nzg.2	+	2	587	c.507C>T	c.(505-507)ACC>ACT	p.T169T	FFAR2_uc010eea.2_Silent_p.T169T	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	169	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	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)			AGAACTTCACCGATAACCAGT	0.522													T	35941123	C	T	35941123	2	4	210	1	0	0	0	0	0	0	0	1	5828	639	23	1		1	FFAR2	19	35941123	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	5005141	35941123	23187860	214	112155											
ZNF568	374900	broad.mit.edu	37	chr19	37441191	37441191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatgtcatctgttacgcTacatatgagaagtcacacag	8	9	3	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:37441191T>C	uc002ofc.2	+	7	1651	c.1136T>C	c.(1135-1137)CTA>CCA	p.L379P	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.L303P|ZNF568_uc010efe.2_Missense_Mutation_p.L303P|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	379	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGTTACGCTACATATGAGA	0.358													C	37441191	T	C	37441191	3	2	210	1	0	0	0	0	1	0	0	0	17996	1522	53	3	1154	3	ZNF568	19	37441191	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	1500068	37441191	21687792	215	112156											
SNRPA	6626	broad.mit.edu	37	chr19	41263268	41263268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtacgccatcttctcCcagtttggccagatcctgga	8	15	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:41263268C>T	uc002ooz.2	+	2	640	c.105C>T	c.(103-105)TCC>TCT	p.S35S	SNRPA_uc002opa.2_5'UTR	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	35	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCATCTTCTCCCAGTTTGGCC	0.527													T	41263268	C	T	41263268	2	4	210	1	0	0	0	0	0	0	0	1	14859	610	22	4		4	SNRPA	19	41263268	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	3822077	41263268	17865715	216	112157											
ZFP112	7771	broad.mit.edu	37	chr19	44832192	44832192	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctttctccagaatggacactCtgatgactctgaaggtatga	9	9	3	5			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:44832192C>G	uc010ejj.2	-	5	2249	c.2136G>C	c.(2134-2136)CAG>CAC	p.Q712H	ZFP112_uc002ozc.3_Missense_Mutation_p.Q706H|ZFP112_uc010xwy.1_Missense_Mutation_p.Q729H|ZFP112_uc010xwz.1_Missense_Mutation_p.Q711H	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	712	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						AATGGACACTCTGATGACTCT	0.463													G	44832192	C	G	44832192	3	3	210	1	0	0	0	0	1	0	0	0	17635	912	32	5	609	5	ZFP112	19	44832192	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	3568924	44832192	14296791	217	112158											
FTL	2512	broad.mit.edu	37	chr19	49469092	49469092	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacttcttccgcgaattggcCgaggagaagcgcgagggcta	14	11	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:49469092C>G	uc002plo.2	+	2	367	c.168C>G	c.(166-168)GCC>GCG	p.A56A	FTL_uc002pln.1_Silent_p.A56A	NM_000146	NP_000137	P02792	FRIL_HUMAN	ferritin, light polypeptide	56	Ferritin-like diiron.|Catalytic site for iron oxidation.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity				0		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;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GCGAATTGGCCGAGGAGAAGC	0.572													G	49469092	C	G	49469092	2	3	210	1	0	0	0	0	0	0	0	1	6084	639	23	5		5	FTL	19	49469092	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	4636900	49469092	9659891	218	112159											
ZNF614	80110	broad.mit.edu	37	chr19	52519689	52519689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgggagcgctgatgtaCaatgagattgctcttcacgg	14	7	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:52519689C>T	uc002pyj.2	-	5	1564	c.1162G>A	c.(1162-1164)GTA>ATA	p.V388I	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.V91I	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	388	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGCTGATGTACAATGAGATTG	0.443													T	52519689	C	T	52519689	3	4	210	1	0	0	0	0	1	0	0	0	18036	478	17	4	599	4	ZNF614	19	52519689	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	3050597	52519689	6609294	219	112160											
ZNF320	162967	broad.mit.edu	37	chr19	53384221	53384221	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accttgccacattcattacaTgtgtaaggtctctctccagt	6	12	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:53384221T>A	uc002qag.2	-	4	1349	c.1158A>T	c.(1156-1158)ACA>ACT	p.T386T	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.T332T|ZNF320_uc002qai.2_Silent_p.T386T	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	386	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ATTCATTACATGTGTAAGGTC	0.403													A	53384221	T	A	53384221	2	1	210	1	0	0	0	0	0	0	0	1	17836	1451	51	5		5	ZNF320	19	53384221	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	864532	53384221	5744762	220	112161											
ZNF665	79788	broad.mit.edu	37	chr19	53668541	53668541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcattcattacatttgaaaGgcttttctccggtatggatg	9	8	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:53668541G>A	uc010eqm.1	-	4	1302	c.1202C>T	c.(1201-1203)CCT>CTT	p.P401L		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		ACATTTGAAAGGCTTTTCTCC	0.393													A	53668541	G	A	53668541	3	1	210	1	0	0	0	0	1	0	0	0	18070	1000	35	4	838	4	ZNF665	19	53668541	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	284320	53668541	5460442	221	112162											
CACNG8	59283	broad.mit.edu	37	chr19	54483128	54483128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcccccgcaggagttgtCcgggcctccagcatcttccc	9	19	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:54483128C>T	uc002qcs.1	+	3	478	c.372C>T	c.(370-372)GTC>GTT	p.V124V	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	125					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				0	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)		CAGGAGTTGTCCGGGCCTCCA	0.682													T	54483128	C	T	54483128	2	4	210	1	0	0	0	0	0	0	0	1	2563	842	30	4		4	CACNG8	19	54483128	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	814587	54483128	4645855	222	112163											
PEG3	5178	broad.mit.edu	37	chr19	57325987	57325987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtctctcttcggtctgacTtctctgaaactcagtgaggg	11	10	5	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:57325987T>C	uc002qnu.2	-	7	4174	c.3823A>G	c.(3823-3825)AGT>GGT	p.S1275G	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S1246G|PEG3_uc002qnv.2_Missense_Mutation_p.S1275G|PEG3_uc002qnw.2_Missense_Mutation_p.S1151G|PEG3_uc002qnx.2_Missense_Mutation_p.S1149G|PEG3_uc010etr.2_Missense_Mutation_p.S1275G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1275					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGGTCTGACTTCTCTGAAAC	0.463													C	57325987	T	C	57325987	3	2	210	1	0	0	0	0	1	0	0	0	11720	1609	56	3	947	3	PEG3	19	57325987	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	2842859	57325987	1802996	223	112164											
ZNF549	256051	broad.mit.edu	37	chr19	58048765	58048765	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacttccctggcagaaaccTtatacgtctgtggccagtgg	10	12	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:58048765T>G	uc002qpb.1	+	4	642	c.393T>G	c.(391-393)CCT>CCG	p.P131P	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Silent_p.P118P	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	131	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(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)		GGCAGAAACCTTATACGTCTG	0.468													G	58048765	T	G	58048765	2	3	210	1	0	0	0	0	0	0	0	1	17978	1596	56	5		5	ZNF549	19	58048765	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	722778	58048765	1080218	224	112165											
ZNF549	256051	broad.mit.edu	37	chr19	58048993	58048993	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaccacccacagcagacaAgagtatgcacatagaagcag	9	12	0	4			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr19:58048993A>T	uc002qpb.1	+	4	870	c.621A>T	c.(619-621)CAA>CAT	p.Q207H	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.Q194H	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(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)		ACAGCAGACAAGAGTATGCAC	0.438													T	58048993	A	T	58048993	3	4	210	1	0	0	0	0	1	0	0	0	17978	69	3	5	592	5	ZNF549	19	58048993	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	228	58048993	1079990	225	112166											
PLCB1	23236	broad.mit.edu	37	chr20	8719977	8719977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtaaattcattggccacCgtatcttgccagtgcaagcc	10	11	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:8719977C>T	uc002wnb.2	+	21	2281	c.2278C>T	c.(2278-2280)CGT>TGT	p.R760C	PLCB1_uc010zrb.1_Missense_Mutation_p.R659C|PLCB1_uc002wna.2_Missense_Mutation_p.R760C|PLCB1_uc002wnc.1_Missense_Mutation_p.R659C|PLCB1_uc002wnd.1_Missense_Mutation_p.R337C	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	760	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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CATTGGCCACCGTATCTTGCC	0.413													T	8719977	C	T	8719977	3	4	210	1	0	0	0	0	1	0	0	0	12027	652	23	1	2360	1	PLCB1	20	8719977	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		8719977	54305543	226	112167											
C20orf26	26074	broad.mit.edu	37	chr20	20054980	20054980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatgcacctctttgtggCcgtggatgagtattctgttg	12	8	3	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:20054980C>T	uc002wru.2	+	4	405	c.329C>T	c.(328-330)GCC>GTC	p.A110V	C20orf26_uc010gcw.1_Missense_Mutation_p.A64V|C20orf26_uc010zse.1_Missense_Mutation_p.A110V|C20orf26_uc010zsf.1_Missense_Mutation_p.A110V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	110										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CTCTTTGTGGCCGTGGATGAG	0.488													T	20054980	C	T	20054980	3	4	210	1	0	0	0	0	1	0	0	0	2106	739	26	2	339	2	C20orf26	20	20054980	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	11335003	20054980	42970540	227	112168											
SLC35C2	51006	broad.mit.edu	37	chr20	44983860	44983860	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccccggcgatgaggaggacCaccaggaccagtgccgcgcg	15	16	0	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:44983860C>G	uc002xro.2	-	6	970	c.429G>C	c.(427-429)GTG>GTC	p.V143V	SLC35C2_uc002xrp.2_Intron|SLC35C2_uc002xrq.2_Silent_p.V143V|SLC35C2_uc002xrr.2_Silent_p.V143V|SLC35C2_uc010zxn.1_Intron|SLC35C2_uc010zxo.1_Silent_p.V29V|SLC35C2_uc010zxp.1_Silent_p.V172V	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	143	Helical; (Potential).				transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TGAGGAGGACCACCAGGACCA	0.612													G	44983860	C	G	44983860	2	3	210	1	0	0	0	0	0	0	0	1	14580	581	21	5		5	SLC35C2	20	44983860	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	24928880	44983860	18041660	228	112169											
CBLN4	140689	broad.mit.edu	37	chr20	54573661	54573661	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtggaatactgccagccTccaaccaaattacctttctc	5	14	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr20:54573661T>C	uc002xxa.2	-	3	1343	c.558A>G	c.(556-558)GGA>GGG	p.G186G		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	186	C1q.					cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4			Colorectal(105;0.202)			ACTGCCAGCCTCCAACCAAAT	0.458													C	54573661	T	C	54573661	2	2	210	1	0	0	0	0	0	0	0	1	2707	1538	54	3		3	CBLN4	20	54573661	Silent	SNP	T	TCGA-D7-6526-01A-11D-1800-08	9589801	54573661	8451859	229	112170											
GAB4	128954	broad.mit.edu	37	chr22	17473066	17473066	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagcgtttcctccaggCctaaggaaggagtaagaaga	11	9	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr22:17473066C>G	uc002zlw.2	-	2	283	c.175G>C	c.(175-177)GCC>CCC	p.A59P	GAB4_uc010gqs.1_Missense_Mutation_p.A59P	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	59	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TTCCTCCAGGCCTAAGGAAGG	0.493													G	17473066	C	G	17473066	3	3	210	1	0	0	0	0	1	0	0	0	6151	753	26	5	1585	5	GAB4	22	17473066	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08		17473066	33831500	230	112171											
FBLN1	2192	broad.mit.edu	37	chr22	45928994	45928994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgggtgacgaggtggtctGctcctgcttcgtgggctacc	15	12	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chr22:45928994G>T	uc003bgj.1	+	6	743	c.596G>T	c.(595-597)TGC>TTC	p.C199F	FBLN1_uc003bgg.1_Missense_Mutation_p.C199F|FBLN1_uc003bgh.2_Missense_Mutation_p.C199F|FBLN1_uc010gzz.2_Missense_Mutation_p.C237F|FBLN1_uc003bgi.1_Missense_Mutation_p.C199F	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	199	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGGTGGTCTGCTCCTGCTTC	0.637													T	45928994	G	T	45928994	3	4	210	1	0	0	0	0	1	0	0	0	5698	1319	46	5	618	5	FBLN1	22	45928994	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	28455928	45928994	5375572	231	112172											
FTHL17	53940	broad.mit.edu	37	chrX	31089731	31089731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacagatccagcaggcTctggttgacgttcttctcca	10	12	3	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:31089731T>C	uc004dcl.1	-	1	443	c.340A>G	c.(340-342)AGC>GGC	p.S114G		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	114	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity				0						TCCAGCAGGCTCTGGTTGACG	0.602													C	31089731	T	C	31089731	3	2	210	1	0	0	0	0	1	0	0	0	6083	1551	54	3	215	3	FTHL17	23	31089731	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08		31089731	124180829	232	112173											
MED14	9282	broad.mit.edu	37	chrX	40511086	40511086	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccagggggcagtgtaAgattagccattaaatcacga	11	10	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:40511086A>C	uc004dex.3	-	31	4477	c.4337T>G	c.(4336-4338)CTT>CGT	p.L1446R		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	1446					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(2)|kidney(1)|skin(1)	4						GGGCAGTGTAAGATTAGCCAT	0.398													C	40511086	A	C	40511086	3	2	210	1	0	0	0	0	1	0	0	0	9432	72	3	5	31	5	MED14	23	40511086	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	9421355	40511086	114759474	233	112174											
PRICKLE3	4007	broad.mit.edu	37	chrX	49032441	49032441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagacaccagagggtcgcGgaagctgacgcgtggggtgc	17	10	1	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:49032441G>A	uc004dmy.1	-	9	1455	c.1429C>T	c.(1429-1431)CGC>TGC	p.R477C	PRICKLE3_uc011mmv.1_Missense_Mutation_p.R409C|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R396C|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R439C	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	477				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(1)	1						AGAGGGTCGCGGAAGCTGACG	0.736													A	49032441	G	A	49032441	3	1	210	1	0	0	0	0	1	0	0	0	12488	1116	39	1	422	1	PRICKLE3	23	49032441	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	8521355	49032441	106238119	234	112175											
NLGN3	54413	broad.mit.edu	37	chrX	70389196	70389196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtccaaatacaatccccGagaccagctctaccttcaca	5	16	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:70389196G>A	uc004dzb.2	+	7	2040	c.1736G>A	c.(1735-1737)CGA>CAA	p.R579Q	NLGN3_uc004dzc.2_Missense_Mutation_p.R462Q|NLGN3_uc011mps.1_Missense_Mutation_p.R559Q|NLGN3_uc004dze.2_Missense_Mutation_p.R397Q	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	599	Extracellular (Potential).				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			ovary(1)	1	Renal(35;0.156)					TACAATCCCCGAGACCAGCTC	0.542													A	70389196	G	A	70389196	3	1	210	1	0	0	0	0	1	0	0	0	10463	1058	37	1	1822	1	NLGN3	23	70389196	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	21356755	70389196	84881364	235	112176											
SLC16A2	6567	broad.mit.edu	37	chrX	73740839	73740839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcatgggtcggagccCtcgcgatgggtatgatcttc	14	11	1	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:73740839C>T	uc004ebt.2	+	2	833	c.667C>T	c.(667-669)CTC>TTC	p.L223F		NM_006517	NP_006508	P36021	MOT8_HUMAN	solute carrier family 16, member 2	149	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|ovary(1)	3					Pyruvic acid(DB00119)	GGTCGGAGCCCTCGCGATGGG	0.522													T	73740839	C	T	73740839	3	4	210	1	0	0	0	0	1	0	0	0	14408	681	24	4	673	4	SLC16A2	23	73740839	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	3351643	73740839	81529721	236	112177											
MAGEE1	57692	broad.mit.edu	37	chrX	75650661	75650661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacattggccgagagtgcAgcaaagtgttccctgacctc	10	12	0	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:75650661A>G	uc004ecm.1	+	1	2545	c.2338A>G	c.(2338-2340)AGC>GGC	p.S780G		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	780	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CCGAGAGTGCAGCAAAGTGTT	0.483													G	75650661	A	G	75650661	3	3	210	1	0	0	0	0	1	0	0	0	9185	188	7	3	2340	3	MAGEE1	23	75650661	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1909822	75650661	79619899	237	112178											
PCDH11X	27328	broad.mit.edu	37	chrX	91456413	91456413	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatcttgcacccccatgaaaGagtctacaactatggagatc	8	11	2	3			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:91456413G>A	uc004efk.1	+	3	3918	c.3073G>A	c.(3073-3075)GAG>AAG	p.E1025K	PCDH11X_uc004efl.1_Missense_Mutation_p.E1025K|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Missense_Mutation_p.E1025K|PCDH11X_uc004efm.1_Missense_Mutation_p.E1025K|PCDH11X_uc004efn.1_Missense_Mutation_p.E1025K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1025	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CCCCATGAAAGAGTCTACAAC	0.378													A	91456413	G	A	91456413	3	1	210	1	0	0	0	0	1	0	0	0	11508	943	33	4	3165	4	PCDH11X	23	91456413	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	15805752	91456413	63814147	238	112179											
ZMAT1	84460	broad.mit.edu	37	chrX	101138598	101138598	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagggtacatcatggcTttttttcttttttcgatgct	9	8	2	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:101138598T>A	uc004eim.2	-	2	4786	c.1288A>T	c.(1288-1290)AGC>TGC	p.S430C	ZMAT1_uc011mrl.1_Missense_Mutation_p.S601C|ZMAT1_uc004ein.2_Missense_Mutation_p.S430C|ZMAT1_uc011mrm.1_Missense_Mutation_p.S430C	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	430						nucleus	zinc ion binding			ovary(1)	1						ACATCATGGCTTTTTTTCTTT	0.398													A	101138598	T	A	101138598	3	1	210	1	0	0	0	0	1	0	0	0	17688	1609	56	5	119	5	ZMAT1	23	101138598	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	9682185	101138598	54131962	239	112180											
IRS4	8471	broad.mit.edu	37	chrX	107978448	107978448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcaaaactgctcaaagCgggaccttctgagccagcct	12	12	2	1			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:107978448C>T	uc004eoc.2	-	1	1160	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	376						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTGCTCAAAGCGGGACCTTCT	0.637													T	107978448	C	T	107978448	3	4	210	1	0	0	0	0	1	0	0	0	7842	768	27	1	2650	1	IRS4	23	107978448	Missense_Mutation	SNP	C	TCGA-D7-6526-01A-11D-1800-08	6839850	107978448	47292112	240	112181											
GUCY2F	2986	broad.mit.edu	37	chrX	108638688	108638688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactactggtctgtacacaGgaggaggcttcttaagtctg	12	8	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:108638688G>A	uc004eod.3	-	12	2582	c.2306C>T	c.(2305-2307)CCT>CTT	p.P769L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	769	Protein kinase.|Cytoplasmic (Potential).				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			lung(4)|breast(3)|central_nervous_system(1)	8						TCTGTACACAGGAGGAGGCTT	0.458													A	108638688	G	A	108638688	3	1	210	1	0	0	0	0	1	0	0	0	6898	1000	35	4	1052	4	GUCY2F	23	108638688	Missense_Mutation	SNP	G	TCGA-D7-6526-01A-11D-1800-08	660240	108638688	46631872	241	112182											
AMMECR1	9949	broad.mit.edu	37	chrX	109444244	109444244	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctttgtatcctcctttcctCaataaggagtctatggtctg	8	10	3	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:109444244C>T	uc004eoo.2	-	5	906	c.825G>A	c.(823-825)TTG>TTA	p.L275L	AMMECR1_uc004eop.2_Silent_p.L238L|AMMECR1_uc004eoq.2_Silent_p.L152L	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	275	AMMECR1.										0						CTCCTTTCCTCAATAAGGAGT	0.383													T	109444244	C	T	109444244	2	4	210	1	0	0	0	0	0	0	0	1	578	825	29	4		4	AMMECR1	23	109444244	Silent	SNP	C	TCGA-D7-6526-01A-11D-1800-08	805556	109444244	45826316	242	112183											
DCX	1641	broad.mit.edu	37	chrX	110644397	110644397	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcttggggcgcacaaAgtccttgttctccctggcct	10	14	1	0			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:110644397A>C	uc004epd.2	-	3	941	c.769T>G	c.(769-771)TTT>GTT	p.F257V	DCX_uc011msv.1_Missense_Mutation_p.F257V|DCX_uc004epe.2_Missense_Mutation_p.F176V|DCX_uc004epf.2_Missense_Mutation_p.F176V|DCX_uc004epg.2_Missense_Mutation_p.F176V	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	257					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						GGGCGCACAAAGTCCTTGTTC	0.537													C	110644397	A	C	110644397	3	2	210	1	0	0	0	0	1	0	0	0	4318	72	3	5	591	5	DCX	23	110644397	Missense_Mutation	SNP	A	TCGA-D7-6526-01A-11D-1800-08	1200153	110644397	44626163	243	112184											
IL13RA2	3598	broad.mit.edu	37	chrX	114249023	114249023	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagtttctgcccaggaacTttgaacttctgatccatttg	8	9	2	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:114249023T>G	uc004epx.2	-	4	486	c.361A>C	c.(361-363)AGT>CGT	p.S121R	IL13RA2_uc010nqd.1_Missense_Mutation_p.S121R	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	121	Extracellular (Potential).|Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						GCCCAGGAACTTTGAACTTCT	0.358													G	114249023	T	G	114249023	3	3	210	1	0	0	0	0	1	0	0	0	7630	1609	56	5	809	5	IL13RA2	23	114249023	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	3604626	114249023	41021537	244	112185											
GPR112	139378	broad.mit.edu	37	chrX	135427615	135427615	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctacacgtacagccTtaactcctgaaatcacactt	5	13	1	2			TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:135427615T>G	uc004ezu.1	+	6	2041	c.1750T>G	c.(1750-1752)TTA>GTA	p.L584V	GPR112_uc010nsb.1_Missense_Mutation_p.L379V|GPR112_uc010nsc.1_Missense_Mutation_p.L351V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	584	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ACGTACAGCCTTAACTCCTGA	0.433													G	135427615	T	G	135427615	3	3	210	1	0	0	0	0	1	0	0	0	6629	1606	56	5	1760	5	GPR112	23	135427615	Missense_Mutation	SNP	T	TCGA-D7-6526-01A-11D-1800-08	21178592	135427615	19842945	245	112186											
CD40LG	959	broad.mit.edu	37	chrX	135738537	135738537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagaatcctcaaattgcGgcacatgtcataagtgaggc	10	9	3	2	rs148581967		TCGA-D7-6526-01A-11D-1800-08	TCGA-D7-6526-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52e88967-ce7a-4a51-95b7-1a6b0738a4b4	ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61	g.chrX:135738537G>A	uc004faa.2	+	4	441	c.369G>A	c.(367-369)GCG>GCA	p.A123A	CD40LG_uc010nsd.2_Intron|CD40LG_uc010nse.1_RNA	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	123	Extracellular (Potential).		A -> E (in HIGM1).		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			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CTCAAATTGCGGCACATGTCA	0.463									Immune_Deficiency_with_Hyper-IgM				A	135738537	G	A	135738537	2	1	210	1	0	0	0	0	0	0	0	1	3016	1103	39	1		1	CD40LG	23	135738537	Silent	SNP	G	TCGA-D7-6526-01A-11D-1800-08	310922	135738537	19532023	246	112187											
PLA2G2C	391013	broad.mit.edu	37	chr1	20490553	20490553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtttttctcataggtGggcaggctctctttgaagca	11	7	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:20490553G>A	uc009vpq.1	-	3	384	c.384C>T	c.(382-384)CCC>CCT	p.P128P		NM_001105572	NP_001099042			phospholipase A2, group IIC precursor												0		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)		TCTCATAGGTGGGCAGGCTCT	0.522													A	20490553	G	A	20490553	2	1	211	1	0	0	0	0	0	0	0	1	11996	1335	47	4		4	PLA2G2C	1	20490553	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08		20490553	228760068	1	112188											
MACF1	23499	broad.mit.edu	37	chr1	39907918	39907918	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctactgatgagacggacagaGacattatacgagaaccactg	10	9	0	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:39907918G>C	uc010oiu.1	+	41	14334	c.14203G>C	c.(14203-14205)GAC>CAC	p.D4735H	MACF1_uc010ois.1_Missense_Mutation_p.D4233H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GACGGACAGAGACATTATACG	0.453													C	39907918	G	C	39907918	3	2	211	1	0	0	0	0	1	0	0	0	9144	942	33	5	19134	5	MACF1	1	39907918	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	19417365	39907918	209342703	2	112189											
SPATA6	54558	broad.mit.edu	37	chr1	48865070	48865070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttttttgaactcatAgggtcccagatttaaatggg	9	6	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:48865070A>G	uc001crr.1	-	7	898	c.733T>C	c.(733-735)TAT>CAT	p.Y245H	SPATA6_uc001crs.1_Missense_Mutation_p.Y245H|SPATA6_uc010omv.1_Missense_Mutation_p.Y231H|SPATA6_uc001crt.2_Missense_Mutation_p.Y137H	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	245					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						TTGAACTCATAGGGTCCCAGA	0.403													G	48865070	A	G	48865070	3	3	211	1	0	0	0	0	1	0	0	0	15012	420	15	3	761	3	SPATA6	1	48865070	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	8957152	48865070	200385551	3	112190											
OLFM3	118427	broad.mit.edu	37	chr1	102290763	102290763	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtactgttccagcacgggGatcaaaggcaggagctcgtc	13	10	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:102290763G>A	uc001duf.2	-	4	542	c.471C>T	c.(469-471)ATC>ATT	p.I157I	OLFM3_uc001dug.2_Silent_p.I137I|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.I62I|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	157	Potential.					extracellular region				ovary(2)|skin(1)	3		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)		CCAGCACGGGGATCAAAGGCA	0.438													A	102290763	G	A	102290763	2	1	211	1	0	0	0	0	0	0	0	1	10854	1164	41	4		4	OLFM3	1	102290763	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	53425693	102290763	146959858	4	112191											
LCE2B	26239	broad.mit.edu	37	chr1	152659494	152659494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctgctgtggtcccAgctctgggggctgctgcaac	17	12	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:152659494A>G	uc001fai.2	+	2	229	c.175A>G	c.(175-177)AGC>GGC	p.S59G		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	59	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGGTCCCAGCTCTGGGGG	0.662													G	152659494	A	G	152659494	3	3	211	1	0	0	0	0	1	0	0	0	8666	188	7	3	177	3	LCE2B	1	152659494	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	50368731	152659494	96591127	5	112192											
IVL	3713	broad.mit.edu	37	chr1	152882716	152882716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcaactgggaatgaAgaaagagcaactgttggagc	14	5	0	5			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:152882716A>C	uc001fau.2	+	2	489	c.443A>C	c.(442-444)AAG>ACG	p.K148T		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	148					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	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)			CTGGGAATGAAGAAAGAGCAA	0.299													C	152882716	A	C	152882716	3	2	211	1	0	0	0	0	1	0	0	0	7929	72	3	5	445	5	IVL	1	152882716	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	223222	152882716	96367905	6	112193											
ARHGEF11	9826	broad.mit.edu	37	chr1	156921411	156921411	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcttccggtcgagagtcGttgtgtcccaggttctgggg	15	9	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:156921411G>A	uc001fqo.2	-	21	2799	c.1759C>T	c.(1759-1761)CGA>TGA	p.R587*	ARHGEF11_uc010phu.1_5'Flank|ARHGEF11_uc001fqn.2_Nonsense_Mutation_p.R627*|ARHGEF11_uc001fqp.1_Nonsense_Mutation_p.R106*	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	587					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCGAGAGTCGTTGTGTCCCA	0.527													A	156921411	G	A	156921411	4	1	211	1	0	0	0	0	0	1	0	0	896	1153	40	1	2889	1	ARHGEF11	1	156921411	Nonsense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	4038695	156921411	92329210	7	112194											
CD5L	922	broad.mit.edu	37	chr1	157804351	157804351	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcttgttgcagcgtttTtgagtcagtacagccctccc	10	12	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:157804351T>G	uc001frk.3	-	4	707	c.564A>C	c.(562-564)CAA>CAC	p.Q188H		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	188	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGCAGCGTTTTTGAGTCAGTA	0.587													G	157804351	T	G	157804351	3	3	211	1	0	0	0	0	1	0	0	0	3027	1838	64	5	491	5	CD5L	1	157804351	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	882940	157804351	91446270	8	112195											
CD1D	912	broad.mit.edu	37	chr1	158151963	158151963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacccaagaggccccacTttgggtaaacttggccattc	9	14	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:158151963T>C	uc001frr.2	+	4	969	c.470T>C	c.(469-471)CTT>CCT	p.L157P	CD1D_uc009wsr.1_Missense_Mutation_p.L157P|CD1D_uc009wss.2_Missense_Mutation_p.L157P|CD1D_uc009wst.1_Missense_Mutation_p.L53P	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	157	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					GAGGCCCCACTTTGGGTAAAC	0.502													C	158151963	T	C	158151963	3	2	211	1	0	0	0	0	1	0	0	0	2977	1609	56	3	480	3	CD1D	1	158151963	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	347612	158151963	91098658	9	112196											
OR10Z1	128368	broad.mit.edu	37	chr1	158576362	158576362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaccagcaatgtcttcaTtatcatagccatcaggctgg	8	11	5	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:158576362T>G	uc010pio.1	+	1	134	c.134T>G	c.(133-135)ATT>AGT	p.I45S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					AATGTCTTCATTATCATAGCC	0.493													G	158576362	T	G	158576362	3	3	211	1	0	0	0	0	1	0	0	0	10923	1493	52	5	136	5	OR10Z1	1	158576362	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	424399	158576362	90674259	10	112197											
OR10Z1	128368	broad.mit.edu	37	chr1	158576477	158576477	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatccctagaatgctctcTggcctggctgggggggacca	13	12	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:158576477T>C	uc010pio.1	+	1	249	c.249T>C	c.(247-249)TCT>TCC	p.S83S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					GAATGCTCTCTGGCCTGGCTG	0.552													C	158576477	T	C	158576477	2	2	211	1	0	0	0	0	0	0	0	1	10923	1567	55	3		3	OR10Z1	1	158576477	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	115	158576477	90674144	11	112198											
SPTA1	6708	broad.mit.edu	37	chr1	158617507	158617507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtctcccccagtatggTcacctggggaggtacaatag	12	11	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:158617507T>C	uc001fst.1	-	27	3917	c.3718A>G	c.(3718-3720)ACC>GCC	p.T1240A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1240	Spectrin 12.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCCAGTATGGTCACCTGGGGA	0.512													C	158617507	T	C	158617507	3	2	211	1	0	0	0	0	1	0	0	0	15115	1667	58	3	3645	3	SPTA1	1	158617507	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	41030	158617507	90633114	12	112199											
SPTA1	6708	broad.mit.edu	37	chr1	158651366	158651366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactcctgtacatactgcTggaacttcagggcccgcagc	9	15	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:158651366T>C	uc001fst.1	-	4	681	c.482A>G	c.(481-483)CAG>CGG	p.Q161R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	161	Spectrin 3.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TACATACTGCTGGAACTTCAG	0.532													C	158651366	T	C	158651366	3	2	211	1	0	0	0	0	1	0	0	0	15115	1580	55	3	6973	3	SPTA1	1	158651366	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	33859	158651366	90599255	13	112200											
IFI16	3428	broad.mit.edu	37	chr1	159023489	159023489	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggaataccggggagttgaGatctgtaattcatagtcaca	12	6	3	1	rs148215169		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:159023489G>C	uc001ftg.2	+	10	2374	c.2084G>C	c.(2083-2085)AGA>ACA	p.R695T	IFI16_uc010pis.1_Missense_Mutation_p.R695T|IFI16_uc001fth.2_Missense_Mutation_p.R238T|IFI16_uc010pit.1_Missense_Mutation_p.R294T	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	751	HIN-200 2.				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			ovary(1)	1	all_hematologic(112;0.0429)					GGGGAGTTGAGATCTGTAATT	0.408													C	159023489	G	C	159023489	3	2	211	1	0	0	0	0	1	0	0	0	7511	942	33	5	2118	5	IFI16	1	159023489	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	372123	159023489	90227132	14	112201											
OR10J5	127385	broad.mit.edu	37	chr1	159504971	159504971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagtgatgatggtgtacGtcactgagagaacaaggtct	15	5	2	4	rs149096656	byFrequency	TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:159504971G>A	uc010piw.1	-	1	827	c.827C>T	c.(826-828)ACG>ATG	p.T276M		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					GATGGTGTACGTCACTGAGAG	0.463													A	159504971	G	A	159504971	3	1	211	1	0	0	0	0	1	0	0	0	10912	1145	40	1	104	1	OR10J5	1	159504971	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	481482	159504971	89745650	15	112202											
LRRC52	440699	broad.mit.edu	37	chr1	165514020	165514020	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcagaaataccggcttgCagaccctggacagtgctgcc	10	14	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:165514020C>T	uc001gde.2	+	1	543	c.487C>T	c.(487-489)CAG>TAG	p.Q163*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	163	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TACCGGCTTGCAGACCCTGGA	0.522													T	165514020	C	T	165514020	4	4	211	1	0	0	0	0	0	1	0	0	9010	711	25	2	489	2	LRRC52	1	165514020	Nonsense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	6009049	165514020	83736601	16	112203											
C1orf129	80133	broad.mit.edu	37	chr1	170965747	170965747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggaccagttatctgaAgatctgtgttactatcatgg	10	7	4	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:170965747A>C	uc001ghg.2	+	14	1567	c.1437A>C	c.(1435-1437)GAA>GAC	p.E479D	C1orf129_uc009wvy.2_Missense_Mutation_p.E286D|C1orf129_uc010plz.1_Missense_Mutation_p.E479D	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	479							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTTATCTGAAGATCTGTGTT	0.443													C	170965747	A	C	170965747	3	2	211	1	0	0	0	0	1	0	0	0	1996	69	3	5	1487	5	C1orf129	1	170965747	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	5451727	170965747	78284874	17	112204											
PAPPA2	60676	broad.mit.edu	37	chr1	176668476	176668476	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaggagtcagtgcaccTgggccccttagacactttct	9	12	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:176668476T>G	uc001gkz.2	+	8	4151	c.2987T>G	c.(2986-2988)CTG>CGG	p.L996R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	996					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TCAGTGCACCTGGGCCCCTTA	0.532													G	176668476	T	G	176668476	3	3	211	1	0	0	0	0	1	0	0	0	11433	1580	55	5	3066	5	PAPPA2	1	176668476	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	5702729	176668476	72582145	18	112205											
PAPPA2	60676	broad.mit.edu	37	chr1	176708800	176708800	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggccagagcaattttTatttttttgacaactgatgg	11	5	0	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:176708800T>A	uc001gkz.2	+	13	5001	c.3837T>A	c.(3835-3837)TTT>TTA	p.F1279L	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1279					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GAGCAATTTTTATTTTTTTGA	0.443													A	176708800	T	A	176708800	3	1	211	1	0	0	0	0	1	0	0	0	11433	1751	61	5	3936	5	PAPPA2	1	176708800	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	40324	176708800	72541821	19	112206											
HMCN1	83872	broad.mit.edu	37	chr1	186072686	186072686	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaacttacctgcattgcTtctggaatcccagcccctaa	6	14	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:186072686T>G	uc001grq.1	+	69	10885	c.10656T>G	c.(10654-10656)GCT>GCG	p.A3552A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3552	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCTGCATTGCTTCTGGAATCC	0.438													G	186072686	T	G	186072686	2	3	211	1	0	0	0	0	0	0	0	1	7220	1596	56	5		5	HMCN1	1	186072686	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	9363886	186072686	63177935	20	112207											
KCNT2	343450	broad.mit.edu	37	chr1	196227454	196227454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgttttaccagagtgTtttgggccttttctgctcag	10	9	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:196227454T>C	uc001gtd.1	-	26	3141	c.3081A>G	c.(3079-3081)AAA>AAG	p.K1027K	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.K960K|KCNT2_uc001gtf.1_Silent_p.K1003K|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Silent_p.K531K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1027	Cytoplasmic (Potential).|ATP (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TACCAGAGTGTTTTGGGCCTT	0.483													C	196227454	T	C	196227454	2	2	211	1	0	0	0	0	0	0	0	1	8092	1722	60	3		3	KCNT2	1	196227454	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	10154768	196227454	53023167	21	112208											
KCNT2	343450	broad.mit.edu	37	chr1	196251449	196251449	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtccagtcccaacagaAgtctcgtgatagaaatcata	8	9	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:196251449A>C	uc001gtd.1	-	24	2795	c.2735T>G	c.(2734-2736)CTT>CGT	p.L912R	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L838R|KCNT2_uc001gtf.1_Missense_Mutation_p.L888R|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L888R|KCNT2_uc001gth.1_Missense_Mutation_p.L409R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	912	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TCCCAACAGAAGTCTCGTGAT	0.303													C	196251449	A	C	196251449	3	2	211	1	0	0	0	0	1	0	0	0	8092	72	3	5	692	5	KCNT2	1	196251449	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	23995	196251449	52999172	22	112209											
CFHR4	10877	broad.mit.edu	37	chr1	196887413	196887413	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaagtgacataaaataTtatgcaaaaacaggggatac	9	4	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:196887413T>G	uc001gto.2	+	6	942	c.873T>G	c.(871-873)TAT>TAG	p.Y291*	CFHR4_uc009wyy.2_Nonsense_Mutation_p.Y537*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.Y538*	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	291	Sushi 5.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						ACATAAAATATTATGCAAAAA	0.299													G	196887413	T	G	196887413	4	3	211	1	0	0	0	0	0	1	0	0	3287	1500	52	5	895	5	CFHR4	1	196887413	Nonsense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	635964	196887413	52363208	23	112210											
F13B	2165	broad.mit.edu	37	chr1	197021923	197021923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttccacttcatttctaTgttatttctgttcatgtaat	3	7	4	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:197021923T>C	uc001gtt.1	-	9	1440	c.1396A>G	c.(1396-1398)ATA>GTA	p.I466V		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	466	Sushi 8.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTCATTTCTATGTTATTTCTG	0.299													C	197021923	T	C	197021923	3	2	211	1	0	0	0	0	1	0	0	0	5341	1464	51	3	605	3	F13B	1	197021923	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	134510	197021923	52228698	24	112211											
CR1	1378	broad.mit.edu	37	chr1	207791438	207791438	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgcccacatccacccaagatCcaaaacgggcattacattgg	7	14	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:207791438C>G	uc001hfy.2	+	34	5702	c.5562C>G	c.(5560-5562)ATC>ATG	p.I1854M	CR1_uc001hfx.2_Missense_Mutation_p.I2304M	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1854	Sushi 29.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CACCCAAGATCCAAAACGGGC	0.443													G	207791438	C	G	207791438	3	3	211	1	0	0	0	0	1	0	0	0	3840	845	30	5	7078	5	CR1	1	207791438	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	10769515	207791438	41459183	25	112212											
USH2A	7399	broad.mit.edu	37	chr1	215824071	215824071	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtgggggctctgagaccttCtggtggggctggcccggttc	18	11	2	1	rs12085358		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:215824071C>T	uc001hku.1	-	65	14593	c.14206G>A	c.(14206-14208)GAA>AAA	p.E4736K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4736	Fibronectin type-III 33.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGACCTTCTGGTGGGGCT	0.557										HNSCC(13;0.011)			T	215824071	C	T	215824071	3	4	211	1	0	0	0	0	1	0	0	0	17033	922	32	4	1434	4	USH2A	1	215824071	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	8032633	215824071	33426550	26	112213											
USH2A	7399	broad.mit.edu	37	chr1	216258110	216258110	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgttatacacgttgatTtgttcttcagaactctgcca	7	10	3	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:216258110T>G	uc001hku.1	-	25	5484	c.5097A>C	c.(5095-5097)CAA>CAC	p.Q1699H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1699	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACGTTGATTTGTTCTTCAG	0.423										HNSCC(13;0.011)			G	216258110	T	G	216258110	3	3	211	1	0	0	0	0	1	0	0	0	17033	1838	64	5	10703	5	USH2A	1	216258110	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	434039	216258110	32992511	27	112214											
PSEN2	5664	broad.mit.edu	37	chr1	227081737	227081737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttggcctcggggacttcAtcttctacagtgtgctggtg	13	10	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:227081737A>G	uc009xeo.1	+	12	1529	c.1102A>G	c.(1102-1104)ATC>GTC	p.I368V	CABC1_uc001hqm.1_5'Flank|PSEN2_uc009xep.1_Missense_Mutation_p.I367V|PSEN2_uc001hqk.2_RNA|uc001hql.1_5'Flank	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	368	Cytoplasmic (Potential).				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			lung(2)	2		Prostate(94;0.0771)				CGGGGACTTCATCTTCTACAG	0.587													G	227081737	A	G	227081737	3	3	211	1	0	0	0	0	1	0	0	0	12651	217	8	3	1136	3	PSEN2	1	227081737	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	10823627	227081737	22168884	28	112215											
FMN2	56776	broad.mit.edu	37	chr1	240555817	240555817	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcactttcagccaaaaTtgaccaagaggcagaggaaa	9	9	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:240555817T>G	uc010pyd.1	+	15	5090	c.4865T>G	c.(4864-4866)ATT>AGT	p.I1622S	FMN2_uc010pye.1_Missense_Mutation_p.I1626S|FMN2_uc010pyf.1_Missense_Mutation_p.I237S|FMN2_uc010pyg.1_Missense_Mutation_p.I218S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1622	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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAGCCAAAATTGACCAAGAG	0.333													G	240555817	T	G	240555817	3	3	211	1	0	0	0	0	1	0	0	0	5950	1493	52	5	4923	5	FMN2	1	240555817	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	13474080	240555817	8694804	29	112216											
OR2AK2	391191	broad.mit.edu	37	chr1	248129071	248129071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgtcaccctttacaTtatcctatgcttatgagcaa	5	11	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:248129071T>G	uc010pzd.1	+	1	438	c.438T>G	c.(436-438)CAT>CAG	p.H146Q	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	146	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)			ACCCTTTACATTATCCTATGC	0.423													G	248129071	T	G	248129071	3	3	211	1	0	0	0	0	1	0	0	0	10986	1490	52	5	440	5	OR2AK2	1	248129071	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	7573254	248129071	1121550	30	112217											
OR2AK2	391191	broad.mit.edu	37	chr1	248129218	248129218	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaaccactttttctgtgaAgttccagctctactatcatt	4	10	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:248129218A>G	uc010pzd.1	+	1	585	c.585A>G	c.(583-585)GAA>GAG	p.E195E	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)			TTTTCTGTGAAGTTCCAGCTC	0.438													G	248129218	A	G	248129218	2	3	211	1	0	0	0	0	0	0	0	1	10986	69	3	3		3	OR2AK2	1	248129218	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	147	248129218	1121403	31	112218											
OR2M5	127059	broad.mit.edu	37	chr1	248309375	248309375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgttaggaaagggcaAgtgtggagagtgagtacttt	16	2	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:248309375A>G	uc010pze.1	+	1	926	c.926A>G	c.(925-927)AAG>AGG	p.K309R		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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)			GGAAAGGGCAAGTGTGGAGAG	0.428													G	248309375	A	G	248309375	3	3	211	1	0	0	0	0	1	0	0	0	11013	72	3	3	928	3	OR2M5	1	248309375	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	180157	248309375	941246	32	112219											
OR2M2	391194	broad.mit.edu	37	chr1	248343833	248343833	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttcttctgtgaattcccTtccctactaatcctctcatg	3	15	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:248343833T>G	uc010pzf.1	+	1	546	c.546T>G	c.(544-546)CCT>CCG	p.P182P		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	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)			GTGAATTCCCTTCCCTACTAA	0.418													G	248343833	T	G	248343833	2	3	211	1	0	0	0	0	0	0	0	1	11010	1596	56	5		5	OR2M2	1	248343833	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	34458	248343833	906788	33	112220											
OR2M7	391196	broad.mit.edu	37	chr1	248487102	248487102	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggctgaatgcacatgaAcaaacctgctccatagtaca	9	10	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:248487102A>C	uc010pzk.1	-	1	769	c.769T>G	c.(769-771)TTC>GTC	p.F257V		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	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)			ATGCACATGAACAAACCTGCT	0.473													C	248487102	A	C	248487102	3	2	211	1	0	0	0	0	1	0	0	0	11014	43	2	5	172	5	OR2M7	1	248487102	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	143269	248487102	763519	34	112221											
OR2T4	127074	broad.mit.edu	37	chr1	248525883	248525883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcatgggggctctgaAgaaaatgttaacagtggaac	14	5	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr1:248525883A>G	uc001ieh.1	+	1	1001	c.1001A>G	c.(1000-1002)AAG>AGG	p.K334R		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	334	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)			GGGGCTCTGAAGAAAATGTTA	0.398													G	248525883	A	G	248525883	3	3	211	1	0	0	0	0	1	0	0	0	11027	72	3	3	1003	3	OR2T4	1	248525883	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	38781	248525883	724738	35	112222											
APOB	338	broad.mit.edu	37	chr2	21231570	21231570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcattaaggttgagagttgGgattatgaattctggaattg	12	2	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:21231570G>T	uc002red.2	-	26	8298	c.8170C>A	c.(8170-8172)CCA>ACA	p.P2724T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2724				Missing (in Ref. 15; AAA51758).	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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGAGAGTTGGGATTATGAAT	0.428													T	21231570	G	T	21231570	3	4	211	1	0	0	0	0	1	0	0	0	785	1232	43	5	5537	5	APOB	2	21231570	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08		21231570	221967803	36	112223											
RPIA	22934	broad.mit.edu	37	chr2	89049502	89049502	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttgtcctgcaggtgtGgtggacacaggcctattcat	12	10	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:89049502G>T	uc002ste.2	+	9	884	c.843G>T	c.(841-843)GTG>GTT	p.V281V		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	281					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTGCAGGTGTGGTGGACACAG	0.483													T	89049502	G	T	89049502	2	4	211	1	0	0	0	0	0	0	0	1	13553	1335	47	5		5	RPIA	2	89049502	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	67817932	89049502	154149871	37	112224											
MGAT4A	11320	broad.mit.edu	37	chr2	99251709	99251709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatagccatcttctaAtcgtttgtctttggtttctt	6	8	5	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:99251709A>C	uc002sze.2	-	14	1758	c.1444T>G	c.(1444-1446)TTA>GTA	p.L482V	C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.L354V|MGAT4A_uc010fil.2_Missense_Mutation_p.L236V	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	482	Lumenal (Potential).				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			skin(1)	1						CCATCTTCTAATCGTTTGTCT	0.279													C	99251709	A	C	99251709	3	2	211	1	0	0	0	0	1	0	0	0	9545	98	4	5	254	5	MGAT4A	2	99251709	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	10202207	99251709	143947664	38	112225											
MYO7B	4648	broad.mit.edu	37	chr2	128335741	128335741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgaggggctcaacgacGccaaggactacgcccacatc	11	15	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:128335741G>A	uc002top.2	+	9	936	c.883G>A	c.(883-885)GCC>ACC	p.A295T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	295	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTCAACGACGCCAAGGACTA	0.632													A	128335741	G	A	128335741	3	1	211	1	0	0	0	0	1	0	0	0	10083	1087	38	1	913	1	MYO7B	2	128335741	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	29084032	128335741	114863632	39	112226											
ZEB2	9839	broad.mit.edu	37	chr2	145156170	145156170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcttgataaaagtcaAgttcagaggctcatctgagt	8	8	5	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:145156170A>C	uc002tvu.2	-	8	3064	c.2584T>G	c.(2584-2586)TTG>GTG	p.L862V	ZEB2_uc002tvv.2_Missense_Mutation_p.L856V|ZEB2_uc010zbm.1_Missense_Mutation_p.L833V|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.L891V	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	862						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATAAAAGTCAAGTTCAGAGGC	0.348													C	145156170	A	C	145156170	3	2	211	1	0	0	0	0	1	0	0	0	17621	69	3	5	1072	5	ZEB2	2	145156170	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	16820429	145156170	98043203	40	112227											
RIF1	55183	broad.mit.edu	37	chr2	152331523	152331523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaactaagttgtatggcaAactctgtaataaaaaatcta	6	5	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:152331523A>G	uc002txm.2	+	36	7487	c.7357A>G	c.(7357-7359)AAC>GAC	p.N2453D	RIF1_uc002txl.2_Missense_Mutation_p.N2427D|RIF1_uc002txn.2_Missense_Mutation_p.N2427D|RIF1_uc002txo.2_Missense_Mutation_p.N2427D|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2453	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTGTATGGCAAACTCTGTAAT	0.338													G	152331523	A	G	152331523	3	3	211	1	0	0	0	0	1	0	0	0	13359	14	1	3	7495	3	RIF1	2	152331523	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	7175353	152331523	90867850	41	112228											
SCN2A	6326	broad.mit.edu	37	chr2	166172074	166172074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcagtagcatctaagTtgagctccaaaagtgaaaaa	8	7	3	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:166172074T>G	uc002udc.2	+	11	1767	c.1477T>G	c.(1477-1479)TTG>GTG	p.L493V	SCN2A_uc002udd.2_Missense_Mutation_p.L493V|SCN2A_uc002ude.2_Missense_Mutation_p.L493V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	493					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGCATCTAAGTTGAGCTCCAA	0.343													G	166172074	T	G	166172074	3	3	211	1	0	0	0	0	1	0	0	0	13916	1722	60	5	1611	5	SCN2A	2	166172074	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	13840551	166172074	77027299	42	112229											
SCN9A	6335	broad.mit.edu	37	chr2	167055189	167055189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatgaagctctattttTtgctttccttgctgtctttc	5	9	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:167055189T>G	uc010fpl.2	-	27	6268	c.5927A>C	c.(5926-5928)AAA>ACA	p.K1976T	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1987						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTCTATTTTTTGCTTTCCTT	0.333													G	167055189	T	G	167055189	3	3	211	1	0	0	0	0	1	0	0	0	13925	1841	64	5	10	5	SCN9A	2	167055189	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	883115	167055189	76144184	43	112230											
TTN	7273	broad.mit.edu	37	chr2	179422434	179422434	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcactgatgccaaagcggTtttctgccttgatgcggaat	11	9	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:179422434T>G	uc010zfg.1	-	277	80167	c.79943A>C	c.(79942-79944)AAC>ACC	p.N26648T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N20343T|TTN_uc010zfi.1_Missense_Mutation_p.N20276T|TTN_uc010zfj.1_Missense_Mutation_p.N20151T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27575							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAAAGCGGTTTTCTGCCTT	0.418													G	179422434	T	G	179422434	3	3	211	1	0	0	0	0	1	0	0	0	16732	1725	60	5	20472	5	TTN	2	179422434	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	12367245	179422434	63776939	44	112231											
TTN	7273	broad.mit.edu	37	chr2	179426489	179426489	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaacacggaactgatactCacttcctgttgtcaggcgaa	8	11	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:179426489C>T	uc010zfg.1	-	275	76890	c.76666G>A	c.(76666-76668)GAG>AAG	p.E25556K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19251K|TTN_uc010zfi.1_Missense_Mutation_p.E19184K|TTN_uc010zfj.1_Missense_Mutation_p.E19059K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26483							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGATACTCACTTCCTGTT	0.438													T	179426489	C	T	179426489	3	4	211	1	0	0	0	0	1	0	0	0	16732	835	29	4	23757	4	TTN	2	179426489	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	4055	179426489	63772884	45	112232											
TTN	7273	broad.mit.edu	37	chr2	179587167	179587167	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctataccagcacacTtggatgggtgcagagccatt	9	12	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:179587167T>G	uc010zfg.1	-	74	18839	c.18615A>C	c.(18613-18615)CAA>CAC	p.Q6205H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2866H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7132							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGCACACTTGGATGGGTG	0.383													G	179587167	T	G	179587167	3	3	211	1	0	0	0	0	1	0	0	0	16732	1606	56	5	82326	5	TTN	2	179587167	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	160678	179587167	63612206	46	112233											
SESTD1	91404	broad.mit.edu	37	chr2	180011150	180011150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctgaagaactgtttcagGatcaaccgatggaagaaagt	11	6	3	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:180011150G>A	uc002uni.3	-	8	766	c.616C>T	c.(616-618)CCT>TCT	p.P206S		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	206					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACTGTTTCAGGATCAACCGAT	0.299													A	180011150	G	A	180011150	3	1	211	1	0	0	0	0	1	0	0	0	14127	1174	41	4	1518	4	SESTD1	2	180011150	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	423983	180011150	63188223	47	112234											
UBE2E3	10477	broad.mit.edu	37	chr2	181846772	181846772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagataacttcaccaagatGtccagtgataggcaaaggtc	10	8	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:181846772G>A	uc002unq.1	+	3	222	c.3G>A	c.(1-3)ATG>ATA	p.M1I	UBE2E3_uc002unr.1_Missense_Mutation_p.M1I|UBE2E3_uc010fri.1_Missense_Mutation_p.M1I	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	1					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			ovary(1)	1						TCACCAAGATGTCCAGTGATA	0.478													A	181846772	G	A	181846772	3	1	211	1	0	0	0	0	1	0	0	0	16851	1377	48	4	5	4	UBE2E3	2	181846772	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	1835622	181846772	61352601	48	112235											
ZNF804A	91752	broad.mit.edu	37	chr2	185802610	185802610	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaactttagaactcaaAgaaaatacagattatcccgt	5	7	1	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:185802610A>C	uc002uph.2	+	4	3081	c.2487A>C	c.(2485-2487)AAA>AAC	p.K829N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	829						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TAGAACTCAAAGAAAATACAG	0.398													C	185802610	A	C	185802610	3	2	211	1	0	0	0	0	1	0	0	0	18167	69	3	5	2501	5	ZNF804A	2	185802610	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	3955838	185802610	57396763	49	112236											
DNAH7	56171	broad.mit.edu	37	chr2	196774920	196774920	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagggctccaaataaggttCtgaaacatatgaaatagaca	9	6	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:196774920C>G	uc002utj.3	-	25	4037	c.3936_splice	c.e25-1	p.R1312_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AAATAAGGTTCTGAAACATAT	0.408													G	196774920	C	G	196774920	5	3	211	1	0	0	0	0	0	0	1	0	4606	927	32	5	8303	5	DNAH7	2	196774920	Splice_Site	SNP	C	TCGA-D7-6527-01A-11D-1800-08	10972310	196774920	46424453	50	112237											
HECW2	57520	broad.mit.edu	37	chr2	197086947	197086947	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacacacctgcccaaatacTtcttcgttcacagtgaacgt	5	14	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:197086947T>G	uc002utm.1	-	24	4317	c.4134A>C	c.(4132-4134)GAA>GAC	p.E1378D	HECW2_uc002utl.1_Missense_Mutation_p.E1022D	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1378	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GCCCAAATACTTCTTCGTTCA	0.448													G	197086947	T	G	197086947	3	3	211	1	0	0	0	0	1	0	0	0	7043	1606	56	5	608	5	HECW2	2	197086947	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	312027	197086947	46112426	51	112238											
HSPD1	3329	broad.mit.edu	37	chr2	198352641	198352641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaatctccagccatagcatCataaccaacttctgaggaac	5	12	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:198352641C>T	uc002uui.2	-	11	1647	c.1510G>A	c.(1510-1512)GAT>AAT	p.D504N	HSPD1_uc002uuj.2_Missense_Mutation_p.D502N|HSPD1_uc010zgx.1_Missense_Mutation_p.D495N|HSPD1_uc010fsm.2_Missense_Mutation_p.D315N|HSPD1_uc002uuk.2_Missense_Mutation_p.D504N	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	504					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			GCCATAGCATCATAACCAACT	0.353													T	198352641	C	T	198352641	3	4	211	1	0	0	0	0	1	0	0	0	7428	826	29	4	219	4	HSPD1	2	198352641	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	1265694	198352641	44846732	52	112239											
PLCL1	5334	broad.mit.edu	37	chr2	198949915	198949915	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagaagtaacagatgaAgatgaagaagctgaaatgtc	13	3	0	7			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr2:198949915A>C	uc010fsp.2	+	2	1965	c.1674A>C	c.(1672-1674)GAA>GAC	p.E558D	PLCL1_uc002uuv.3_Missense_Mutation_p.E479D	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	558	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P558L(1)		ovary(1)|skin(1)	2					Quinacrine(DB01103)	TAACAGATGAAGATGAAGAAG	0.408													C	198949915	A	C	198949915	3	2	211	1	0	0	0	0	1	0	0	0	12039	69	3	5	1680	5	PLCL1	2	198949915	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	597274	198949915	44249458	53	112240											
CHL1	10752	broad.mit.edu	37	chr3	423943	423943	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctgggaagctggagctgAccacaacagcaatattagcg	12	10	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:423943A>C	uc003bou.2	+	16	2181	c.1910A>C	c.(1909-1911)GAC>GCC	p.D637A	CHL1_uc003bot.2_Missense_Mutation_p.D653A|CHL1_uc003bow.1_Missense_Mutation_p.D637A|CHL1_uc011asi.1_Missense_Mutation_p.D653A|uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	637	Fibronectin type-III 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		GCTGGAGCTGACCACAACAGC	0.418													C	423943	A	C	423943	3	2	211	1	0	0	0	0	1	0	0	0	3349	275	10	5	2016	5	CHL1	3	423943	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08		423943	197598487	54	112241											
CNTN6	27255	broad.mit.edu	37	chr3	1269539	1269539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacattgattttactatgAgttatcactacaggttggat	8	6	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:1269539A>C	uc003boz.2	+	4	487	c.220A>C	c.(220-222)AGT>CGT	p.S74R	CNTN6_uc010hbo.2_Missense_Mutation_p.S69R|CNTN6_uc011asj.1_Missense_Mutation_p.S2R|CNTN6_uc003bpa.2_Missense_Mutation_p.S74R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	74	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		TTTTACTATGAGTTATCACTA	0.393													C	1269539	A	C	1269539	3	2	211	1	0	0	0	0	1	0	0	0	3645	304	11	5	230	5	CNTN6	3	1269539	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	845596	1269539	196752891	55	112242											
CNTN6	27255	broad.mit.edu	37	chr3	1415424	1415424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggacaccattttctgtGggttggcaggctgttgctac	12	10	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:1415424G>A	uc003boz.2	+	15	2190	c.1923G>A	c.(1921-1923)GTG>GTA	p.V641V	CNTN6_uc011asj.1_Silent_p.V569V|CNTN6_uc003bpa.2_Silent_p.V641V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	641	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		CATTTTCTGTGGGTTGGCAGG	0.323													A	1415424	G	A	1415424	2	1	211	1	0	0	0	0	0	0	0	1	3645	1335	47	4		4	CNTN6	3	1415424	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	145885	1415424	196607006	56	112243											
NR1D2	9975	broad.mit.edu	37	chr3	24001267	24001267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaacagatgtcagcaatgtCgcttcaaaaagtgtctgtct	10	8	4	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:24001267C>T	uc003ccs.2	+	4	797	c.478C>T	c.(478-480)CGC>TGC	p.R160C	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R85C	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	160	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						TCAGCAATGTCGCTTCAAAAA	0.383													T	24001267	C	T	24001267	3	4	211	1	0	0	0	0	1	0	0	0	10616	884	31	1	492	1	NR1D2	3	24001267	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	22585843	24001267	174021163	57	112244											
TRANK1	9881	broad.mit.edu	37	chr3	36887808	36887808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttgaatgcgggagcccGtttctctcggttttcatcaa	9	9	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:36887808G>A	uc003cgj.2	-	7	3642	c.3340C>T	c.(3340-3342)CGG>TGG	p.R1114W		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1664					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GCGGGAGCCCGTTTCTCTCGG	0.418													A	36887808	G	A	36887808	3	1	211	1	0	0	0	0	1	0	0	0	16451	1144	40	1	3819	1	TRANK1	3	36887808	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	12886541	36887808	161134622	58	112245											
EXOG	9941	broad.mit.edu	37	chr3	38539262	38539262	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacatatttccaaaagcaaGataatgggtaggtggttgga	12	4	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:38539262G>A	uc003cih.2	+	2	402	c.306G>A	c.(304-306)AAG>AAA	p.K102K	EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	102						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						CCAAAAGCAAGATAATGGGTA	0.343													A	38539262	G	A	38539262	2	1	211	1	0	0	0	0	0	0	0	1	5312	933	33	4		4	EXOG	3	38539262	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	1651454	38539262	159483168	59	112246											
SCN5A	6331	broad.mit.edu	37	chr3	38592796	38592796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggaagttgaacatgtcGtcgatgccagcctcccactt	10	12	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:38592796G>A	uc003cio.2	-	28	5261	c.5067C>T	c.(5065-5067)GAC>GAT	p.D1689D	SCN5A_uc003cin.2_Silent_p.D1688D|SCN5A_uc003cil.3_Silent_p.D1689D|SCN5A_uc010hhi.2_Silent_p.D1671D|SCN5A_uc010hhk.2_Silent_p.D1656D|SCN5A_uc011ayr.1_Silent_p.D1635D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1689					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	TGAACATGTCGTCGATGCCAG	0.562													A	38592796	G	A	38592796	2	1	211	1	0	0	0	0	0	0	0	1	13922	1136	40	1		1	SCN5A	3	38592796	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	53534	38592796	159429634	60	112247											
SCN11A	11280	broad.mit.edu	37	chr3	38938681	38938681	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttaattagtgtgttcaaAgttggccaggatttggctaa	10	5	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:38938681A>C	uc011ays.1	-	14	2257	c.2058T>G	c.(2056-2058)ACT>ACG	p.T686T	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	686	Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTGTGTTCAAAGTTGGCCAGG	0.428													C	38938681	A	C	38938681	2	2	211	1	0	0	0	0	0	0	0	1	13913	59	3	5		5	SCN11A	3	38938681	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	345885	38938681	159083749	61	112248											
TTC21A	199223	broad.mit.edu	37	chr3	39162529	39162529	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctagggctagtgtgtagtttCatcgagcgcaccttcatggc	12	10	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:39162529C>T	uc003cjc.2	+	9	1143	c.966C>T	c.(964-966)TTC>TTT	p.F322F	TTC21A_uc003cje.2_Silent_p.F322F|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.F273F	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	322							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGTAGTTTCATCGAGCGCA	0.522													T	39162529	C	T	39162529	2	4	211	1	0	0	0	0	0	0	0	1	16684	825	29	4		4	TTC21A	3	39162529	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	223848	39162529	158859901	62	112249			1	51		3	3	62	C		1.183589e-07
TTC21A	199223	broad.mit.edu	37	chr3	39162565	39162565	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atggccaccccctcgtatgtCcatgtggccacagaactggg	11	14	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:39162565C>G	uc003cjc.2	+	9	1179	c.1002C>G	c.(1000-1002)GTC>GTG	p.V334V	TTC21A_uc003cje.2_Silent_p.V334V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.V285V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	334	TPR 6.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTCGTATGTCCATGTGGCCA	0.517													G	39162565	C	G	39162565	2	3	211	1	0	0	0	0	0	0	0	1	16684	842	30	5		5	TTC21A	3	39162565	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	36	39162565	158859865	63	112250			1	51		3	3	62	C		1.183589e-07
TTC21A	199223	broad.mit.edu	37	chr3	39162590	39162590	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggccacagaactgggctatCtcttcatcctgaagaaccaa	8	12	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:39162590C>G	uc003cjc.2	+	9	1204	c.1027C>G	c.(1027-1029)CTC>GTC	p.L343V	TTC21A_uc003cje.2_Missense_Mutation_p.L343V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L294V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	343	TPR 6.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACTGGGCTATCTCTTCATCCT	0.512													G	39162590	C	G	39162590	3	3	211	1	0	0	0	0	1	0	0	0	16684	913	32	5	1061	5	TTC21A	3	39162590	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	25	39162590	158859840	64	112251			1	51		3	3	62	C		1.183589e-07
WDR6	11180	broad.mit.edu	37	chr3	49052400	49052400	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcttcgtgcttgctgtggaGatgctacagctagaagaggc	14	8	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:49052400G>A	uc003cvj.2	+	6	3273	c.3135G>A	c.(3133-3135)GAG>GAA	p.E1045E	WDR6_uc011bby.1_Silent_p.E493E|WDR6_uc010hkn.2_Silent_p.E989E|WDR6_uc011bbz.1_Silent_p.E964E	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	1015	WD 15.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				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)		TTGCTGTGGAGATGCTACAGC	0.587													A	49052400	G	A	49052400	2	1	211	1	0	0	0	0	0	0	0	1	17307	933	33	4		4	WDR6	3	49052400	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	9889810	49052400	148970030	65	112252											
WDR6	11180	broad.mit.edu	37	chr3	49052464	49052464	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccagctgcgtgtgctagagGaatactctgtcccctgtgca	11	13	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:49052464G>T	uc003cvj.2	+	6	3337	c.3199G>T	c.(3199-3201)GAA>TAA	p.E1067*	WDR6_uc011bby.1_Nonsense_Mutation_p.E515*|WDR6_uc010hkn.2_Nonsense_Mutation_p.E1011*|WDR6_uc011bbz.1_Nonsense_Mutation_p.E986*|DALRD3_uc003cvk.1_3'UTR|DALRD3_uc003cvl.1_3'UTR|DALRD3_uc003cvm.1_3'UTR|DALRD3_uc010hko.1_3'UTR	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	1037					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				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)		TGTGCTAGAGGAATACTCTGT	0.557													T	49052464	G	T	49052464	4	4	211	1	0	0	0	0	0	1	0	0	17307	1175	41	5	3221	5	WDR6	3	49052464	Nonsense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	64	49052464	148969966	66	112253											
CACNA2D3	55799	broad.mit.edu	37	chr3	54603875	54603875	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttcgactgcaggaacCgaaaatggtaggcagtggtc	13	9	0	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:54603875C>T	uc003dhf.2	+	7	778	c.730C>T	c.(730-732)CGA>TGA	p.R244*	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.R150*|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	244	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAGGAACCGAAAATGGTA	0.378													T	54603875	C	T	54603875	4	4	211	1	0	0	0	0	0	1	0	0	2550	644	23	1	756	1	CACNA2D3	3	54603875	Nonsense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	5551411	54603875	143418555	67	112254											
TMF1	7110	broad.mit.edu	37	chr3	69075185	69075185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagtcctgccatatcaaCaccacttattgaacttgagc	6	12	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:69075185C>T	uc003dnn.2	-	14	3068	c.2821G>A	c.(2821-2823)GTT>ATT	p.V941I	TMF1_uc011bfx.1_Missense_Mutation_p.V944I	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	941					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		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)		GCCATATCAACACCACTTATT	0.343													T	69075185	C	T	69075185	3	4	211	1	0	0	0	0	1	0	0	0	16225	478	17	4	476	4	TMF1	3	69075185	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	14471310	69075185	128947245	68	112255											
EPHA3	2042	broad.mit.edu	37	chr3	89462402	89462402	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaacatatccattgataAagttgttggagcaggtaacc	8	9	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:89462402A>C	uc003dqy.2	+	10	2099	c.1874A>C	c.(1873-1875)AAA>ACA	p.K625T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	625	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		TCCATTGATAAAGTTGTTGGA	0.423										TSP Lung(6;0.00050)			C	89462402	A	C	89462402	3	2	211	1	0	0	0	0	1	0	0	0	5168	14	1	5	1938	5	EPHA3	3	89462402	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	20387217	89462402	108560028	69	112256											
EPHA6	285220	broad.mit.edu	37	chr3	97202873	97202873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagattgatccctcaAgaattcgtattgagagagtc	10	7	1	5			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:97202873A>G	uc010how.1	+	10	2213	c.2170A>G	c.(2170-2172)AGA>GGA	p.R724G	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.R90G|EPHA6_uc003drs.3_Missense_Mutation_p.R116G|EPHA6_uc003drr.3_Missense_Mutation_p.R116G|EPHA6_uc003drt.2_Missense_Mutation_p.R116G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	629	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TGATCCCTCAAGAATTCGTAT	0.294													G	97202873	A	G	97202873	3	3	211	1	0	0	0	0	1	0	0	0	5171	64	3	3	2276	3	EPHA6	3	97202873	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	7740471	97202873	100819557	70	112257											
TRAT1	50852	broad.mit.edu	37	chr3	108572596	108572596	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaactacatgcaatagatGccagcgtttctaagaccacc	7	12	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:108572596G>T	uc003dxi.1	+	6	577	c.433G>T	c.(433-435)GCC>TCC	p.A145S	TRAT1_uc010hpx.1_Missense_Mutation_p.A108S	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	145	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						TGCAATAGATGCCAGCGTTTC	0.448													T	108572596	G	T	108572596	3	4	211	1	0	0	0	0	1	0	0	0	16463	1319	46	5	455	5	TRAT1	3	108572596	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	11369723	108572596	89449834	71	112258											
IGSF11	152404	broad.mit.edu	37	chr3	118621778	118621780	+	In_Frame_Del	DEL	AGA	AGA	-													tcagtgtgaaatgctttggcAgaagaacacttgggtggaag					rs147053288		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:118621777_118621779CAGA>C	uc003ebw.3	-	6	1131_1133	c.884_886TCTG>G	c.(883-888)tctgcc>tGcc	p.295_296SA>C	IGSF11_uc011biv.2_In_Frame_Del_p.267_268SA>C|IGSF11_uc003ebx.3_In_Frame_Del_p.271_272SA>C|IGSF11_uc003eby.3_In_Frame_Del_p.294_295SA>C|IGSF11_uc003ebz.3_In_Frame_Del_p.270_271SA>C|IGSF11_uc010hqs.3_In_Frame_Del_p.294_295SA>C	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	295					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						AATGCTTTGGCAGAAGAACACTT	0.419													-	118621780	AGA	-	118621778	7	5	211	1	0	1	0	1	0	0	0	0	7598	175	7	0	414	0	IGSF11	3	118621778	In_Frame_Del	DEL	AGA	TCGA-D7-6527-01A-11D-1800-08	10049182	118621778	79400652	72	112259											
EAF2	55840	broad.mit.edu	37	chr3	121591406	121591406	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggcagaagctagtctAatggaccagatgagtagttg	13	6	1	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:121591406A>C	uc003een.2	+	5	606	c.507A>C	c.(505-507)CTA>CTC	p.L169L	EAF2_uc003eeo.2_Silent_p.L39L	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	169					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		AAGCTAGTCTAATGGACCAGA	0.299													C	121591406	A	C	121591406	2	2	211	1	0	0	0	0	0	0	0	1	4876	349	13	5		5	EAF2	3	121591406	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	2969628	121591406	76431024	73	112260											
MCM2	4171	broad.mit.edu	37	chr3	127339719	127339719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcatgcgcagcatgcGcaaggtgggtgtgctccgag	16	11	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:127339719G>A	uc003ejp.2	+	14	2501	c.2444G>A	c.(2443-2445)CGC>CAC	p.R815H	MCM2_uc011bkm.1_Missense_Mutation_p.R685H|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R768H	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	815					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(1)	4						CGCAGCATGCGCAAGGTGGGT	0.602													A	127339719	G	A	127339719	3	1	211	1	0	0	0	0	1	0	0	0	9386	1087	38	1	2498	1	MCM2	3	127339719	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	5748313	127339719	70682711	74	112261											
SKIL	6498	broad.mit.edu	37	chr3	170078371	170078371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaactttgcatttaaatccCagtttgaaacacacattggc	6	9	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:170078371C>T	uc003fgu.2	+	2	964	c.252C>T	c.(250-252)CCC>CCT	p.P84P	SKIL_uc011bps.1_Silent_p.P64P|SKIL_uc003fgv.2_Silent_p.P84P|SKIL_uc003fgw.2_Silent_p.P84P	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	84					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|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			ovary(2)|skin(1)	3	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)			ATTTAAATCCCAGTTTGAAAC	0.458													T	170078371	C	T	170078371	2	4	211	1	0	0	0	0	0	0	0	1	14358	581	21	4		4	SKIL	3	170078371	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	42738652	170078371	27944059	75	112262											
NAALADL2	254827	broad.mit.edu	37	chr3	174814787	174814787	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagactatagacctcaatcTtgattccattcaaccagcaa	5	11	3	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr3:174814787T>G	uc003fit.2	+	2	338	c.251T>G	c.(250-252)CTT>CGT	p.L84R	NAALADL2_uc003fiu.1_Missense_Mutation_p.L77R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	84	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		GACCTCAATCTTGATTCCATT	0.448													G	174814787	T	G	174814787	3	3	211	1	0	0	0	0	1	0	0	0	10130	1609	56	5	257	5	NAALADL2	3	174814787	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	4736416	174814787	23207643	76	112263											
FAM193A	8603	broad.mit.edu	37	chr4	2695327	2695327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaggtgacgtgtttcatGgcatcagcaaggaggaccac	13	9	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:2695327G>A	uc010icl.2	+	14	2296	c.1945G>A	c.(1945-1947)GGC>AGC	p.G649S	FAM193A_uc010ick.2_Missense_Mutation_p.G849S|FAM193A_uc003gfd.2_Missense_Mutation_p.G649S|FAM193A_uc011bvm.1_Missense_Mutation_p.G671S|FAM193A_uc011bvn.1_Missense_Mutation_p.G649S|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.G503S	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	649										ovary(3)	3						CGTGTTTCATGGCATCAGCAA	0.473													A	2695327	G	A	2695327	3	1	211	1	0	0	0	0	1	0	0	0	5524	1348	47	4	1991	4	FAM193A	4	2695327	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08		2695327	188458949	77	112264											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107340	6107340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcctctgcctgcttgcGcgctgccttgagctccagga	11	17	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:6107340G>A	uc003giu.3	-	3	760	c.484C>T	c.(484-486)CGC>TGC	p.R162C	JAKMIP1_uc010idb.1_Missense_Mutation_p.R162C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R162C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R162C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R162C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	162	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCCTGCTTGCGCGCTGCCTTG	0.677													A	6107340	G	A	6107340	3	1	211	1	0	0	0	0	1	0	0	0	7940	1087	38	1	2162	1	JAKMIP1	4	6107340	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	3412013	6107340	185046936	78	112265											
ZNF518B	85460	broad.mit.edu	37	chr4	10445604	10445604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtgggcattctcagaGgaattaagaaccctcaacac	9	9	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:10445604G>A	uc003gmn.2	-	3	2836	c.2349C>T	c.(2347-2349)TCC>TCT	p.S783S		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						CATTCTCAGAGGAATTAAGAA	0.468													A	10445604	G	A	10445604	2	1	211	1	0	0	0	0	0	0	0	1	17960	987	35	4		4	ZNF518B	4	10445604	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	4338264	10445604	180708672	79	112266											
SLIT2	9353	broad.mit.edu	37	chr4	20258306	20258306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcttagggatttaaatgGaaataacatcacaagaatta	6	5	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:20258306G>A	uc003gpr.1	+	2	395	c.191G>A	c.(190-192)GGA>GAA	p.G64E	SLIT2_uc003gps.1_Missense_Mutation_p.G64E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	64	LRR 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						GATTTAAATGGAAATAACATC	0.299													A	20258306	G	A	20258306	3	1	211	1	0	0	0	0	1	0	0	0	14740	1174	41	4	197	4	SLIT2	4	20258306	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	9812702	20258306	170895970	80	112267											
SLIT2	9353	broad.mit.edu	37	chr4	20525501	20525501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgccaaggggacctttTcacctcttcgggccattcaa	8	15	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:20525501T>G	uc003gpr.1	+	13	1453	c.1249T>G	c.(1249-1251)TCA>GCA	p.S417A	SLIT2_uc003gps.1_Missense_Mutation_p.S417A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	417	LRR 11.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						GGGGACCTTTTCACCTCTTCG	0.433													G	20525501	T	G	20525501	3	3	211	1	0	0	0	0	1	0	0	0	14740	1783	62	5	1299	5	SLIT2	4	20525501	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	267195	20525501	170628775	81	112268											
CORIN	10699	broad.mit.edu	37	chr4	47647108	47647108	+	Silent	SNP	C	C	T													aagcacttacagcagtttttCtcgtccatgtaatcagggca							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:47647108C>T	uc003gxm.2	-	14	2040	c.1947G>A	c.(1945-1947)GAG>GAA	p.E649E	CORIN_uc011bzf.1_Silent_p.E510E|CORIN_uc011bzg.1_Silent_p.E582E|CORIN_uc011bzh.1_Silent_p.E612E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	649	Extracellular (Potential).|LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						AGCAGTTTTTCTCGTCCATGT	0.378													T	47647108	C	T	47647108	2	4	211	1	0	0	0	0	0	0	0	1	3752	912	32	4		4	CORIN	4	47647108	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	27121607	47647108	143507168	82	112269	528	2									
CORIN	10699	broad.mit.edu	37	chr4	47647114	47647114	+	Missense_Mutation	SNP	C	C	A													ttacagcagtttttctcgtcCatgtaatcagggcagtctgg							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:47647114C>A	uc003gxm.2	-	14	2034	c.1941G>T	c.(1939-1941)ATG>ATT	p.M647I	CORIN_uc011bzf.1_Missense_Mutation_p.M508I|CORIN_uc011bzg.1_Missense_Mutation_p.M580I|CORIN_uc011bzh.1_Missense_Mutation_p.M610I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	647	Extracellular (Potential).|LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						TTTTCTCGTCCATGTAATCAG	0.383													A	47647114	C	A	47647114	3	1	211	1	0	0	0	0	1	0	0	0	3752	594	21	5	1223	5	CORIN	4	47647114	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	6	47647114	143507162	83	112270	528	2									
ADAMTS3	9508	broad.mit.edu	37	chr4	73186470	73186470	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcttgcctggttaaaaAaattgcatggtcatggtgtt	10	5	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:73186470A>C	uc003hgk.1	-	7	1100	c.1063T>G	c.(1063-1065)TTT>GTT	p.F355V		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	355	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			CTGGTTAAAAAAATTGCATGG	0.433													C	73186470	A	C	73186470	3	2	211	1	0	0	0	0	1	0	0	0	267	14	1	5	2618	5	ADAMTS3	4	73186470	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	25539356	73186470	117967806	84	112271											
PTPN13	5783	broad.mit.edu	37	chr4	87685813	87685813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttcatcacctcctaAgcctggagatatctttgagg	7	10	4	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:87685813A>C	uc003hpz.2	+	25	4565	c.4085A>C	c.(4084-4086)AAG>ACG	p.K1362T	PTPN13_uc003hpy.2_Missense_Mutation_p.K1362T|PTPN13_uc003hqa.2_Missense_Mutation_p.K1343T|PTPN13_uc003hqb.2_Missense_Mutation_p.K1171T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1362				KP -> RS (in Ref. 5; CAA56124).		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCACCTCCTAAGCCTGGAGAT	0.348													C	87685813	A	C	87685813	3	2	211	1	0	0	0	0	1	0	0	0	12782	72	3	5	4179	5	PTPN13	4	87685813	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	14499343	87685813	103468463	85	112272											
ANK2	287	broad.mit.edu	37	chr4	114176918	114176918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctccactacacatggctGcccagggagaccacgtggaa	11	13	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:114176918G>T	uc003ibe.3	+	11	1118	c.1018G>T	c.(1018-1020)GCC>TCC	p.A340S	ANK2_uc003ibd.3_Missense_Mutation_p.A319S|ANK2_uc003ibf.3_Missense_Mutation_p.A340S|ANK2_uc003ibc.2_Missense_Mutation_p.A316S|ANK2_uc011cgb.1_Missense_Mutation_p.A355S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	340	ANK 10.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACACATGGCTGCCCAGGGAGA	0.453													T	114176918	G	T	114176918	3	4	211	1	0	0	0	0	1	0	0	0	621	1319	46	5	1085	5	ANK2	4	114176918	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	26491105	114176918	76977358	86	112273											
CCNA2	890	broad.mit.edu	37	chr4	122739317	122739317	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggtatatccagtctttcGtattaatgattcaggctaca	8	8	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:122739317G>C	uc003iec.3	-	7	1437	c.1132C>G	c.(1132-1134)CGA>GGA	p.R378G		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	378					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			ovary(1)	1						CCAGTCTTTCGTATTAATGAT	0.413													C	122739317	G	C	122739317	3	2	211	1	0	0	0	0	1	0	0	0	2910	1153	40	5	174	5	CCNA2	4	122739317	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	8562399	122739317	68414959	87	112274											
BBS7	55212	broad.mit.edu	37	chr4	122774116	122774116	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttttaatgaacttacctgatCaaatcgtagaacaggttcat	6	7	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:122774116C>G	uc003ied.2	-	8	1018	c.844G>C	c.(844-846)GAT>CAT	p.D282H	BBS7_uc003iee.1_Missense_Mutation_p.D282H	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	282					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			ovary(1)	1						CTTACCTGATCAAATCGTAGA	0.303									Bardet-Biedl_syndrome				G	122774116	C	G	122774116	3	3	211	1	0	0	0	0	1	0	0	0	1341	826	29	5	1356	5	BBS7	4	122774116	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	34799	122774116	68380160	88	112275											
KIAA1109	84162	broad.mit.edu	37	chr4	123161001	123161001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggattccagcatgtcaatGgctgatagtgaagcctactt	10	8	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:123161001G>A	uc003ieh.2	+	27	4209	c.4164G>A	c.(4162-4164)ATG>ATA	p.M1388I	KIAA1109_uc003iei.1_Missense_Mutation_p.M1141I|KIAA1109_uc010ins.1_Missense_Mutation_p.M731I|KIAA1109_uc003iek.2_Missense_Mutation_p.M7I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1388					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GCATGTCAATGGCTGATAGTG	0.428													A	123161001	G	A	123161001	3	1	211	1	0	0	0	0	1	0	0	0	8208	1348	47	4	4270	4	KIAA1109	4	123161001	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	386885	123161001	67993275	89	112276											
PCDH18	54510	broad.mit.edu	37	chr4	138451176	138451176	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgcctggcttactgaAgtcattgctgtacttgtcac	10	9	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:138451176A>G	uc003ihe.3	-	1	2454	c.2067T>C	c.(2065-2067)ACT>ACC	p.T689T	PCDH18_uc003ihf.3_Silent_p.T682T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.T469T|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	689	Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GGCTTACTGAAGTCATTGCTG	0.403													G	138451176	A	G	138451176	2	3	211	1	0	0	0	0	0	0	0	1	11513	59	3	3		3	PCDH18	4	138451176	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	15290175	138451176	52703100	90	112277											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632253	156632253	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctgatgaacaggagAgactttcaaggaaagcctaa	12	6	1	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:156632253A>G	uc003iov.2	+	7	1472	c.936A>G	c.(934-936)AGA>AGG	p.R312R	GUCY1A3_uc003iou.2_Silent_p.R312R|GUCY1A3_uc010iqc.2_Silent_p.R312R|GUCY1A3_uc003iow.2_Silent_p.R312R|GUCY1A3_uc010iqd.2_Silent_p.R311R|GUCY1A3_uc003iox.2_Silent_p.R312R|GUCY1A3_uc003ioz.2_Silent_p.R77R|GUCY1A3_uc003ioy.2_Silent_p.R312R|GUCY1A3_uc010iqe.2_Silent_p.R77R|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.R312R	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	312					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(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGAACAGGAGAGACTTTCAAG	0.378													G	156632253	A	G	156632253	2	3	211	1	0	0	0	0	0	0	0	1	6894	301	11	3		3	GUCY1A3	4	156632253	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	18181077	156632253	34522023	91	112278											
FSTL5	56884	broad.mit.edu	37	chr4	162697220	162697220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcagtagtcttgcacTtatctcctgtaacaaaagaa	6	8	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr4:162697220T>C	uc003iqh.2	-	5	852	c.416A>G	c.(415-417)AAG>AGG	p.K139R	FSTL5_uc003iqi.2_Missense_Mutation_p.K138R|FSTL5_uc010iqv.2_Missense_Mutation_p.K138R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	139						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGTCTTGCACTTATCTCCTGT	0.254													C	162697220	T	C	162697220	3	2	211	1	0	0	0	0	1	0	0	0	6080	1609	56	3	2175	3	FSTL5	4	162697220	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	6064967	162697220	28457056	92	112279											
CDH18	1016	broad.mit.edu	37	chr5	19721530	19721530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagcgctgtttccatagGtagggtcatctgcatcagta	11	11	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:19721530G>A	uc003jgc.2	-	4	946	c.569C>T	c.(568-570)ACC>ATC	p.T190I	CDH18_uc003jgd.2_Missense_Mutation_p.T190I|CDH18_uc011cnm.1_Missense_Mutation_p.T190I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	190	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTTTCCATAGGTAGGGTCATC	0.443													A	19721530	G	A	19721530	3	1	211	1	0	0	0	0	1	0	0	0	3103	1261	44	4	1839	4	CDH18	5	19721530	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08		19721530	161193730	93	112280											
CDH10	1008	broad.mit.edu	37	chr5	24498534	24498534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggcattttcacatacAaaagtgtcatagaacacagc	8	9	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:24498534A>G	uc003jgr.1	-	9	1820	c.1488T>C	c.(1486-1488)TTT>TTC	p.F496F	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	496	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TTTCACATACAAAAGTGTCAT	0.393										HNSCC(23;0.051)			G	24498534	A	G	24498534	2	3	211	1	0	0	0	0	0	0	0	1	3096	127	5	3		3	CDH10	5	24498534	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	4777004	24498534	156416726	94	112281											
SPEF2	79925	broad.mit.edu	37	chr5	35704684	35704684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctataaaactgctcaCgaagatatcagtcaacgtgt	7	9	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:35704684C>T	uc003jjo.2	+	17	2538	c.2427C>T	c.(2425-2427)CAC>CAT	p.H809H	SPEF2_uc003jjq.3_Silent_p.H804H|SPEF2_uc003jjp.1_Silent_p.H295H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	809					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTGCTCACGAAGATATCA	0.313													T	35704684	C	T	35704684	2	4	211	1	0	0	0	0	0	0	0	1	15034	535	19	1		1	SPEF2	5	35704684	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	11206150	35704684	145210576	95	112282											
RANBP3L	202151	broad.mit.edu	37	chr5	36249771	36249771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtattcatgaacaggcaacCgactgtctgtgagtccaact	9	10	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:36249771C>T	uc003jkh.2	-	14	1876	c.1383G>A	c.(1381-1383)TCG>TCA	p.S461S	RANBP3L_uc011cow.1_Silent_p.S486S	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	461					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AACAGGCAACCGACTGTCTGT	0.308													T	36249771	C	T	36249771	2	4	211	1	0	0	0	0	0	0	0	1	13030	639	23	1		1	RANBP3L	5	36249771	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	545087	36249771	144665489	96	112283											
EGFLAM	133584	broad.mit.edu	37	chr5	38370543	38370543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccccgcagctggcccAgtgacatcatccggaccctc	9	20	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:38370543A>G	uc003jlc.1	+	6	1015	c.691A>G	c.(691-693)AGT>GGT	p.S231G	EGFLAM_uc003jlb.1_Missense_Mutation_p.S231G	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	231	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					CAGCTGGCCCAGTGACATCAT	0.567													G	38370543	A	G	38370543	3	3	211	1	0	0	0	0	1	0	0	0	4966	188	7	3	713	3	EGFLAM	5	38370543	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	2120772	38370543	142544717	97	112284											
MRPS30	10884	broad.mit.edu	37	chr5	44813250	44813250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttacggtcacacccagtTtcatctgttacctgacaaat	6	12	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:44813250T>G	uc003joh.2	+	4	934	c.896T>G	c.(895-897)TTT>TGT	p.F299C		NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	299					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					CACACCCAGTTTCATCTGTTA	0.388													G	44813250	T	G	44813250	3	3	211	1	0	0	0	0	1	0	0	0	9840	1841	64	5	910	5	MRPS30	5	44813250	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	6442707	44813250	136102010	98	112285											
RASA1	5921	broad.mit.edu	37	chr5	86629108	86629108	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagatagaaggcgtgtaCgagctattctaccttacaca	9	8	1	3	rs137853218		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:86629108C>T	uc003kiw.2	+	4	971	c.853C>T	c.(853-855)CGA>TGA	p.R285*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R108*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R118*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R119*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R108*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	285	SH3.				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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		AAGGCGTGTACGAGCTATTCT	0.313													T	86629108	C	T	86629108	4	4	211	1	0	0	0	0	0	1	0	0	13060	528	19	1	879	1	RASA1	5	86629108	Nonsense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	41815858	86629108	94286152	99	112286											
PJA2	9867	broad.mit.edu	37	chr5	108704318	108704318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccactgctatcactttgTagctcaggttcattctcatc	8	12	4	0	rs141863473		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:108704318T>C	uc003kos.3	-	5	1633	c.1413A>G	c.(1411-1413)CTA>CTG	p.L471L		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	471					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			ovary(1)|skin(1)	2		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)		TATCACTTTGTAGCTCAGGTT	0.393													C	108704318	T	C	108704318	2	2	211	1	0	0	0	0	0	0	0	1	11962	1625	57	3		3	PJA2	5	108704318	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	22075210	108704318	72210942	100	112287											
SPOCK1	6695	broad.mit.edu	37	chr5	136324212	136324212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgatacagggctcgtacTtatccaggtagatggcattg	12	8	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:136324212T>G	uc003lbo.2	-	7	1018	c.827A>C	c.(826-828)AAG>ACG	p.K276T	SPOCK1_uc003lbp.2_Missense_Mutation_p.K276T	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	276					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTCGTACTTATCCAGGTA	0.493													G	136324212	T	G	136324212	3	3	211	1	0	0	0	0	1	0	0	0	15078	1609	56	5	508	5	SPOCK1	5	136324212	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	27619894	136324212	44591048	101	112288											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794089	140794089	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgctacaagtggcagatatCaatgacaacccacctacctt	6	12	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:140794089C>T	uc003lkl.1	+	1	1347	c.1347C>T	c.(1345-1347)ATC>ATT	p.I449I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.I449I	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	449	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGATATCAATGACAACC	0.498													T	140794089	C	T	140794089	2	4	211	1	0	0	0	0	0	0	0	1	11551	816	29	4		4	PCDHGA10	5	140794089	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	4469877	140794089	40121171	102	112289											
BNIP1	662	broad.mit.edu	37	chr5	172590860	172590860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcttctcatcttccttgCgctagccctgtttcttgcta	6	14	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr5:172590860C>T	uc003mcj.3	+	6	727	c.623C>T	c.(622-624)GCG>GTG	p.A208V	BNIP1_uc003mci.3_Missense_Mutation_p.A251V|BNIP1_uc003mck.3_Missense_Mutation_p.A217V|BNIP1_uc003mcl.3_Missense_Mutation_p.A174V	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	208	Helical; Anchor for type IV membrane protein; (Potential).				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			ovary(1)	1	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)			ATCTTCCTTGCGCTAGCCCTG	0.502													T	172590860	C	T	172590860	3	4	211	1	0	0	0	0	1	0	0	0	1476	768	27	1	778	1	BNIP1	5	172590860	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	31796771	172590860	8324400	103	112290											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775400	27775400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcaggcgcacggcggtctgGatctccctggaggtgatggt	17	10	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:27775400G>C	uc003njl.2	-	1	310	c.285C>G	c.(283-285)ATC>ATG	p.I95M	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	95					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CGGCGGTCTGGATCTCCCTGG	0.617													C	27775400	G	C	27775400	3	2	211	1	0	0	0	0	1	0	0	0	7151	1164	41	5	99	5	HIST1H2BL	6	27775400	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08		27775400	143339667	104	112291											
NKAPL	222698	broad.mit.edu	37	chr6	28227548	28227548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggattggggaattgggagcGcctgaagtgtgggggccgtc	20	6	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:28227548G>A	uc003nkt.2	+	1	451	c.399G>A	c.(397-399)GCG>GCA	p.A133A	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										upper_aerodigestive_tract(1)|ovary(1)	2						AATTGGGAGCGCCTGAAGTGT	0.537													A	28227548	G	A	28227548	2	1	211	1	0	0	0	0	0	0	0	1	10440	1074	38	1		1	NKAPL	6	28227548	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	452148	28227548	142887519	105	112292											
TDRD6	221400	broad.mit.edu	37	chr6	46659618	46659618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaaatagtcaagtgttTccattaacaacagaaaagaa	5	5	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:46659618T>G	uc003oyj.2	+	1	3753	c.3753T>G	c.(3751-3753)TTT>TTG	p.F1251L	TDRD6_uc010jze.2_Missense_Mutation_p.F1245L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1251					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GTCAAGTGTTTCCATTAACAA	0.328													G	46659618	T	G	46659618	3	3	211	1	0	0	0	0	1	0	0	0	15731	1780	62	5	3755	5	TDRD6	6	46659618	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	18432070	46659618	124455449	106	112293											
TFAP2D	83741	broad.mit.edu	37	chr6	50682950	50682950	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttactccaccaccggcaccgAgtttgcgtccccctacttct	6	18	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:50682950A>T	uc003paf.2	+	2	673	c.161A>T	c.(160-162)GAG>GTG	p.E54V	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	54							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					ACCGGCACCGAGTTTGCGTCC	0.572													T	50682950	A	T	50682950	3	4	211	1	0	0	0	0	1	0	0	0	15787	304	11	5	167	5	TFAP2D	6	50682950	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	4023332	50682950	120432117	107	112294											
GSTA1	2938	broad.mit.edu	37	chr6	52661050	52661050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgagaatggctctggTctgcaccagcttcatcccat	10	11	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:52661050T>C	uc003paz.2	-	4	314	c.202A>G	c.(202-204)ACC>GCC	p.T68A		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	68	Glutathione binding.|GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ATGGCTCTGGTCTGCACCAGC	0.423													C	52661050	T	C	52661050	3	2	211	1	0	0	0	0	1	0	0	0	6830	1667	58	3	482	3	GSTA1	6	52661050	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	1978100	52661050	118454017	108	112295											
BAI3	577	broad.mit.edu	37	chr6	69653787	69653787	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacatgtggtcgaggccaaAgaacaagaacaaggtcatgc	11	8	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:69653787A>C	uc003pev.3	+	6	1544	c.1096A>C	c.(1096-1098)AGA>CGA	p.R366R	BAI3_uc010kak.2_Silent_p.R366R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	366	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TCGAGGCCAAAGAACAAGAAC	0.448													C	69653787	A	C	69653787	2	2	211	1	0	0	0	0	0	0	0	1	1300	64	3	5		5	BAI3	6	69653787	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	16992737	69653787	101461280	109	112296											
KCNQ5	56479	broad.mit.edu	37	chr6	73830234	73830234	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagttacgcagctgatgAgaaatctgtttccattgcaa	10	8	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:73830234A>T	uc003pgk.2	+	8	1501	c.1154A>T	c.(1153-1155)GAG>GTG	p.E385V	KCNQ5_uc003pgj.3_Missense_Mutation_p.E385V|KCNQ5_uc011dyh.1_Missense_Mutation_p.E385V|KCNQ5_uc011dyi.1_Missense_Mutation_p.E385V|KCNQ5_uc010kat.2_Missense_Mutation_p.E385V|KCNQ5_uc011dyj.1_Missense_Mutation_p.E385V|KCNQ5_uc011dyk.1_Missense_Mutation_p.E144V	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	385					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCAGCTGATGAGAAATCTGTT	0.443													T	73830234	A	T	73830234	3	4	211	1	0	0	0	0	1	0	0	0	8086	304	11	5	1184	5	KCNQ5	6	73830234	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	4176447	73830234	97284833	110	112297											
KCNQ5	56479	broad.mit.edu	37	chr6	73900325	73900325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcatgttgcaaaacggaAgtttaaggaaacattacgtc	8	6	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:73900325A>G	uc003pgk.2	+	12	1954	c.1607A>G	c.(1606-1608)AAG>AGG	p.K536R	KCNQ5_uc011dyh.1_Missense_Mutation_p.K555R|KCNQ5_uc011dyi.1_Missense_Mutation_p.K546R|KCNQ5_uc010kat.2_Missense_Mutation_p.K527R|KCNQ5_uc011dyj.1_Missense_Mutation_p.K426R|KCNQ5_uc011dyk.1_Missense_Mutation_p.K286R	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	536					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCAAAACGGAAGTTTAAGGAA	0.294													G	73900325	A	G	73900325	3	3	211	1	0	0	0	0	1	0	0	0	8086	72	3	3	1714	3	KCNQ5	6	73900325	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	70091	73900325	97214742	111	112298											
COL12A1	1303	broad.mit.edu	37	chr6	75865381	75865381	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtagttaattcctacctaAgttcctccaaaacaactgtg	5	11	0	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:75865381A>C	uc003phs.2	-	16	3606	c.3440T>G	c.(3439-3441)CTT>CGT	p.L1147R	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1147	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTCCTACCTAAGTTCCTCCAA	0.383													C	75865381	A	C	75865381	3	2	211	1	0	0	0	0	1	0	0	0	3669	72	3	5	5955	5	COL12A1	6	75865381	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	1965056	75865381	95249686	112	112299											
C6orf58	352999	broad.mit.edu	37	chr6	127899908	127899910	+	In_Frame_Del	DEL	TGG	TGG	-													tgtgcatctctgtggacagtTggtgggctggtatgttcgtt							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:127899907_127899909TTGG>T	uc003qbh.3	+	1	390_392	c.378_380TTGG>T	c.(376-381)agttgg>agTg	p.W128del		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	128						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTGTGGACAGTTGGTGGGCTGGT	0.429													-	127899910	TGG	-	127899908	7	5	211	1	0	1	0	1	0	0	0	0	2367	1812	63	0	385	0	C6orf58	6	127899908	In_Frame_Del	DEL	TGG	TCGA-D7-6527-01A-11D-1800-08	52034527	127899908	43215159	113	112300											
GRM1	2911	broad.mit.edu	37	chr6	146673533	146673533	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgatgccatgaagcccaTcgacggcagcaagctgctgg	13	13	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:146673533T>G	uc010khw.1	+	5	1804	c.1334T>G	c.(1333-1335)ATC>AGC	p.I445S	GRM1_uc010khv.1_Missense_Mutation_p.I445S|GRM1_uc003qll.2_Missense_Mutation_p.I445S|GRM1_uc011edz.1_Missense_Mutation_p.I445S|GRM1_uc011eea.1_Missense_Mutation_p.I445S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	445	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATGAAGCCCATCGACGGCAGC	0.552													G	146673533	T	G	146673533	3	3	211	1	0	0	0	0	1	0	0	0	6796	1435	50	5	1348	5	GRM1	6	146673533	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	18773625	146673533	24441534	114	112301											
PARK2	5071	broad.mit.edu	37	chr6	162206827	162206827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggcagggagtagccaAgttgagggtcgtgaacaaac	14	8	0	2	rs56154308		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr6:162206827A>C	uc003qtx.3	-	7	982	c.848T>G	c.(847-849)CTT>CGT	p.L283R	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.L92R|PARK2_uc003qtw.3_Missense_Mutation_p.L92R|PARK2_uc003qty.3_Missense_Mutation_p.L255R|PARK2_uc003qtz.3_Missense_Mutation_p.L134R|PARK2_uc010kke.1_Missense_Mutation_p.L283R|PARK2_uc011egf.1_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	283	SYT11 binding 2.|RING-type 1; atypical.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGAGTAGCCAAGTTGAGGGTC	0.433													C	162206827	A	C	162206827	3	2	211	1	0	0	0	0	1	0	0	0	11449	72	3	5	573	5	PARK2	6	162206827	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	15533294	162206827	8908240	115	112302											
SDK1	221935	broad.mit.edu	37	chr7	4008964	4008964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggggggtctacagatcgCgcccgtcttcatccaggatg	13	12	3	1	rs146705640	by1000genomes	TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:4008964C>T	uc003smx.2	+	11	1761	c.1622C>T	c.(1621-1623)GCG>GTG	p.A541V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	541	Ig-like C2-type 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CTACAGATCGCGCCCGTCTTC	0.552													T	4008964	C	T	4008964	3	4	211	1	0	0	0	0	1	0	0	0	13968	768	27	1	1664	1	SDK1	7	4008964	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08		4008964	155129699	116	112303											
ETV1	2115	broad.mit.edu	37	chr7	13971158	13971158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatctctgggttcctgTttaatcatcagaggaggggg	13	7	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:13971158T>G	uc011jxq.1	-	9	1510	c.771A>C	c.(769-771)AAA>AAC	p.K257N	ETV1_uc011jxn.1_Missense_Mutation_p.K217N|ETV1_uc011jxo.1_Missense_Mutation_p.K154N|ETV1_uc011jxp.1_Missense_Mutation_p.K199N|ETV1_uc003ssw.3_Missense_Mutation_p.K257N|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.K239N|ETV1_uc011jxs.1_Missense_Mutation_p.K239N|ETV1_uc010ktv.2_Missense_Mutation_p.K126N	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	257					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						TGGGTTCCTGTTTAATCATCA	0.493			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								G	13971158	T	G	13971158	3	3	211	1	0	0	0	0	1	0	0	0	5277	1722	60	5	686	5	ETV1	7	13971158	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	9962194	13971158	145167505	117	112304											
ITGB8	3696	broad.mit.edu	37	chr7	20371450	20371451	+	Frame_Shift_Ins	INS	-	-	T													tgtgcggctcggccctggctINSttttttaccgctgcatttgt							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:20371449_20371450C>CT	uc003suu.3	+	0	725_726	c.20_21C>CT	c.(19-21)gctfs	p.A7fs	ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	7					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						TCGGCCCTGGCTTTTTTTACCG	0.668													T	20371451	-	T	20371450	7	5	211	1	0	1	1	0	0	0	0	0	7901	1596	56	0	23	0	ITGB8	7	20371450	Frame_Shift_Ins	INS	-	TCGA-D7-6527-01A-11D-1800-08	6400292	20371450	138767213	118	112305											
ABCA13	154664	broad.mit.edu	37	chr7	48411843	48411843	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggctgtgttgaccataAgcagtgctactctggccatc	10	11	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:48411843A>C	uc003toq.2	+	33	10907	c.10882A>C	c.(10882-10884)AGC>CGC	p.S3628R	ABCA13_uc010kys.1_Missense_Mutation_p.S702R|ABCA13_uc003tos.1_Missense_Mutation_p.S454R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3628					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTTGACCATAAGCAGTGCTAC	0.448													C	48411843	A	C	48411843	3	2	211	1	0	0	0	0	1	0	0	0	31	72	3	5	10841	5	ABCA13	7	48411843	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	28040393	48411843	110726820	119	112306											
CHCHD2	51142	broad.mit.edu	37	chr7	56171922	56171922	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctaaattcccacctgGtaagtgatgtcaggcctcgc	10	13	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:56171922G>T	uc003tsa.2	-	2	378	c.297C>A	c.(295-297)TAC>TAA	p.Y99*	PSPH_uc003trj.2_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain	99						mitochondrion					0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCCCACCTGGTAAGTGATGT	0.493													T	56171922	G	T	56171922	4	4	211	1	0	0	0	0	0	1	0	0	3316	1256	44	5	170	5	CHCHD2	7	56171922	Nonsense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	7760079	56171922	102966741	120	112307											
AUTS2	26053	broad.mit.edu	37	chr7	69064894	69064894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtccacctcggcagaagaGgacatcattgatggatttgc	12	9	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:69064894G>C	uc003tvw.3	+	1	998	c.255G>C	c.(253-255)GAG>GAC	p.E85D	AUTS2_uc003tvv.3_Missense_Mutation_p.E85D|AUTS2_uc003tvx.3_Missense_Mutation_p.E85D	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	85										ovary(2)|central_nervous_system(1)	3		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)		CGGCAGAAGAGGACATCATTG	0.632													C	69064894	G	C	69064894	3	2	211	1	0	0	0	0	1	0	0	0	1225	991	35	5	257	5	AUTS2	7	69064894	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	12892972	69064894	90073769	121	112308											
SPDYE5	442590	broad.mit.edu	37	chr7	75130983	75130983	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaacctgagggccaggaaGaaccgctctcagatagtcct	11	11	1	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:75130983G>C	uc011kfy.1	+	6	994	c.858G>C	c.(856-858)AAG>AAC	p.K286N		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	286	Arg-rich.										0						GGGCCAGGAAGAACCGCTCTC	0.577													C	75130983	G	C	75130983	3	2	211	1	0	0	0	0	1	0	0	0	15031	933	33	5	880	5	SPDYE5	7	75130983	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	6066089	75130983	84007680	122	112309											
CACNA2D1	781	broad.mit.edu	37	chr7	81746366	81746366	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcttttacttacagccctCatagatgtcagtaggaatat	6	8	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:81746366C>T	uc003uhr.1	-	6	776	c.520G>A	c.(520-522)GAG>AAG	p.E174K		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	174	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTACAGCCCTCATAGATGTCA	0.403													T	81746366	C	T	81746366	3	4	211	1	0	0	0	0	1	0	0	0	2548	835	29	4	2891	4	CACNA2D1	7	81746366	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	6615383	81746366	77392297	123	112310											
PCLO	27445	broad.mit.edu	37	chr7	82544696	82544696	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgaataggtgaaaaTtttgacattttagggtcaat	8	4	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:82544696T>G	uc003uhx.2	-	7	12895	c.12606A>C	c.(12604-12606)AAA>AAC	p.K4202N	PCLO_uc003uhv.2_Missense_Mutation_p.K4202N|PCLO_uc010lec.2_Missense_Mutation_p.K1167N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4133					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TAGGTGAAAATTTTGACATTT	0.383													G	82544696	T	G	82544696	3	3	211	1	0	0	0	0	1	0	0	0	11583	1490	52	5	2915	5	PCLO	7	82544696	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	798330	82544696	76593967	124	112311											
ZNF804B	219578	broad.mit.edu	37	chr7	88963203	88963203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccataaactctaaaattTtgcaagacaaacacgactct	3	11	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:88963203T>G	uc011khi.1	+	4	1445	c.907T>G	c.(907-909)TTG>GTG	p.L303V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	303						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCTAAAATTTTGCAAGACAA	0.333										HNSCC(36;0.09)			G	88963203	T	G	88963203	3	3	211	1	0	0	0	0	1	0	0	0	18168	1838	64	5	921	5	ZNF804B	7	88963203	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	6418507	88963203	70175460	125	112312											
ZNF804B	219578	broad.mit.edu	37	chr7	88964949	88964949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatttgtgatctgggaAaagtcaggcccatgaagtgt	11	8	3	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:88964949A>G	uc011khi.1	+	4	3191	c.2653A>G	c.(2653-2655)AAA>GAA	p.K885E		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	885						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGATCTGGGAAAAGTCAGGCC	0.433										HNSCC(36;0.09)			G	88964949	A	G	88964949	3	3	211	1	0	0	0	0	1	0	0	0	18168	15	1	3	2667	3	ZNF804B	7	88964949	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	1746	88964949	70173714	126	112313											
CYP3A43	64816	broad.mit.edu	37	chr7	99459298	99459298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatggtggtgaatgaaacGctcagattattcccagttgt	11	7	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:99459298G>A	uc003urx.1	+	11	1192	c.1089G>A	c.(1087-1089)ACG>ACA	p.T363T	CYP3A43_uc003ury.1_Silent_p.T363T|CYP3A43_uc003urz.1_Silent_p.T363T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Silent_p.T253T|CYP3A43_uc003usb.1_Silent_p.T223T	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	363			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TGAATGAAACGCTCAGATTAT	0.428													A	99459298	G	A	99459298	2	1	211	1	0	0	0	0	0	0	0	1	4179	1074	38	1		1	CYP3A43	7	99459298	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	10494349	99459298	59679365	127	112314											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518863	113518863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctcgatgggcctgtcacTtcgtgctgtctcttgaggta	11	11	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:113518863T>G	uc010ljy.1	-	4	2315	c.2284A>C	c.(2284-2286)AGT>CGT	p.S762R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	762					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GGCCTGTCACTTCGTGCTGTC	0.408													G	113518863	T	G	113518863	3	3	211	1	0	0	0	0	1	0	0	0	12371	1609	56	5	1088	5	PPP1R3A	7	113518863	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	14059565	113518863	45619800	128	112315											
C7orf58	79974	broad.mit.edu	37	chr7	120876821	120876821	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggttacagcctatttcTtctgactacattgaagccat	8	9	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:120876821T>G	uc003vjq.3	+	17	2556	c.2109T>G	c.(2107-2109)TCT>TCG	p.S703S	C7orf58_uc003vjs.3_Silent_p.S703S|C7orf58_uc003vjt.3_Silent_p.S483S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	703						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AGCCTATTTCTTCTGACTACA	0.353													G	120876821	T	G	120876821	2	3	211	1	0	0	0	0	0	0	0	1	2405	1596	56	5		5	C7orf58	7	120876821	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	7357958	120876821	38261842	129	112316											
CHRM2	1129	broad.mit.edu	37	chr7	136700337	136700337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaaggaaggatagtgaAgccaaacaataacaacatgc	10	7	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:136700337A>G	uc003vtf.1	+	4	1348	c.725A>G	c.(724-726)AAG>AGG	p.K242R	CHRM2_uc003vtg.1_Missense_Mutation_p.K242R|CHRM2_uc003vtj.1_Missense_Mutation_p.K242R|CHRM2_uc003vtk.1_Missense_Mutation_p.K242R|CHRM2_uc003vtl.1_Missense_Mutation_p.K242R|CHRM2_uc003vtm.1_Missense_Mutation_p.K242R|CHRM2_uc003vti.1_Missense_Mutation_p.K242R|CHRM2_uc003vto.1_Missense_Mutation_p.K242R|CHRM2_uc003vtn.1_Missense_Mutation_p.K242R|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	242	Cytoplasmic (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	AGGATAGTGAAGCCAAACAAT	0.498													G	136700337	A	G	136700337	3	3	211	1	0	0	0	0	1	0	0	0	3377	72	3	3	727	3	CHRM2	7	136700337	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	15823516	136700337	22438326	130	112317											
OR6B1	135946	broad.mit.edu	37	chr7	143701562	143701562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctttggcatctccctggCgaagatctacttcatctcct	8	13	4	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:143701562C>T	uc003wdt.1	+	1	473	c.473C>T	c.(472-474)GCG>GTG	p.A158V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					ATCTCCCTGGCGAAGATCTAC	0.537													T	143701562	C	T	143701562	3	4	211	1	0	0	0	0	1	0	0	0	11187	768	27	1	475	1	OR6B1	7	143701562	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	7001225	143701562	15437101	131	112318											
ZNF398	57541	broad.mit.edu	37	chr7	148876198	148876198	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttttactcacccatcaAgacttacctaccatcttcgg	5	14	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:148876198A>C	uc003wfl.2	+	6	1509	c.1234A>C	c.(1234-1236)AGA>CGA	p.R412R	ZNF398_uc011kul.1_Silent_p.R241R|ZNF398_uc011kum.1_Silent_p.R417R	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	412	C2H2-type 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TCACCCATCAAGACTTACCTA	0.587													C	148876198	A	C	148876198	2	2	211	1	0	0	0	0	0	0	0	1	17882	64	3	5		5	ZNF398	7	148876198	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	5174636	148876198	10262465	132	112319											
RHEB	6009	broad.mit.edu	37	chr7	151181842	151181842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccggctgtgtctacaAgttgaagatgatattcttgt	10	8	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr7:151181842A>C	uc003wkh.1	-	3	586	c.173T>G	c.(172-174)CTT>CGT	p.L58R		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Ras homolog enriched in brain precursor	58					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			large_intestine(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		TGTGTCTACAAGTTGAAGATG	0.358													C	151181842	A	C	151181842	3	2	211	1	0	0	0	0	1	0	0	0	13328	72	3	5	405	5	RHEB	7	151181842	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	2305644	151181842	7956821	133	112320											
CSMD1	64478	broad.mit.edu	37	chr8	2807839	2807839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaagctttcaggagtaAgtgggcctcctccttcttgt	10	9	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:2807839A>C	uc011kwk.1	-	67	10621	c.10231T>G	c.(10231-10233)TTA>GTA	p.L3411V	CSMD1_uc011kwj.1_Missense_Mutation_p.L2725V|CSMD1_uc010lrg.2_Missense_Mutation_p.L1302V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3411	Extracellular (Potential).					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)		TTCAGGAGTAAGTGGGCCTCC	0.398													C	2807839	A	C	2807839	3	2	211	1	0	0	0	0	1	0	0	0	3944	69	3	5	482	5	CSMD1	8	2807839	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08		2807839	143556183	134	112321											
SH2D4A	63898	broad.mit.edu	37	chr8	19218776	19218776	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaatagaagaagagagaacGaagcagatttgtaagagctg	12	4	0	6			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:19218776G>A	uc003wzb.2	+	6	993	c.657G>A	c.(655-657)ACG>ACA	p.T219T	SH2D4A_uc011kym.1_Silent_p.T174T|SH2D4A_uc003wzc.2_Silent_p.T219T	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	219						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		AAGAGAGAACGAAGCAGATTT	0.348													A	19218776	G	A	19218776	2	1	211	1	0	0	0	0	0	0	0	1	14235	1045	37	1		1	SH2D4A	8	19218776	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	16410937	19218776	127145246	135	112322											
CHRNA6	8973	broad.mit.edu	37	chr8	42620260	42620260	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtgtaccgtgacagggtcgGaaacgttttccacaggcctg	13	10	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:42620260G>C	uc003xpj.2	-	2	213	c.167C>G	c.(166-168)TCC>TGC	p.S56C	CHRNA6_uc011lcw.1_Missense_Mutation_p.S56C	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	56	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	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)			GACAGGGTCGGAAACGTTTTC	0.522													C	42620260	G	C	42620260	3	2	211	1	0	0	0	0	1	0	0	0	3387	1174	41	5	1337	5	CHRNA6	8	42620260	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	23401484	42620260	103743762	136	112323											
PXDNL	137902	broad.mit.edu	37	chr8	52321285	52321285	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagggtgtgcatggcggccaGagccagatgctcgttggccc	16	12	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:52321285G>C	uc003xqu.3	-	17	3000	c.2899C>G	c.(2899-2901)CTG>GTG	p.L967V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	967					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATGGCGGCCAGAGCCAGATGC	0.647													C	52321285	G	C	52321285	3	2	211	1	0	0	0	0	1	0	0	0	12848	933	33	5	1520	5	PXDNL	8	52321285	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	9701025	52321285	94042737	137	112324											
PREX2	80243	broad.mit.edu	37	chr8	69046292	69046292	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctatgttctctttgatcacAgatagtgagacacagctccg	8	10	3	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:69046292A>T	uc003xxv.1	+	32	3794	c.3767_splice	c.e32-2	p.D1256_splice		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTTTGATCACAGATAGTGAGA	0.453													T	69046292	A	T	69046292	5	4	211	1	0	0	0	0	0	0	1	0	12477	202	7	5	4120	5	PREX2	8	69046292	Splice_Site	SNP	A	TCGA-D7-6527-01A-11D-1800-08	16725007	69046292	77317730	138	112325											
PREX2	80243	broad.mit.edu	37	chr8	69069558	69069558	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtttacttgtttacacagcActagagagcatggaaggata	10	6	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:69069558A>T	uc003xxv.1	+	35	4260	c.4233A>T	c.(4231-4233)GCA>GCT	p.A1411A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1411					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TTTACACAGCACTAGAGAGCA	0.323													T	69069558	A	T	69069558	2	4	211	1	0	0	0	0	0	0	0	1	12477	173	6	5		5	PREX2	8	69069558	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	23266	69069558	77294464	139	112326											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744764	70744764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactagtgggactgaggcTtggccggcaggaggcgctgc	17	11	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:70744764T>C	uc003xyl.2	-	2	852	c.145A>G	c.(145-147)AGC>GGC	p.S49G	SLCO5A1_uc010lzb.2_Missense_Mutation_p.S49G|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.S49G|SLCO5A1_uc010lzc.2_Missense_Mutation_p.S49G	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGACTGAGGCTTGGCCGGCAG	0.647											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	70744764	T	C	70744764	3	2	211	1	0	0	0	0	1	0	0	0	14731	1609	56	3	2437	3	SLCO5A1	8	70744764	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	1675206	70744764	75619258	140	112327											
ZFHX4	79776	broad.mit.edu	37	chr8	77620259	77620259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cataccaccaatcacaggcaCgaggcggccctgaagctcta	9	15	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:77620259C>G	uc003yav.2	+	3	3378	c.2991C>G	c.(2989-2991)CAC>CAG	p.H997Q	ZFHX4_uc003yat.1_Missense_Mutation_p.H997Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H1023Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H997Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	997						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCACAGGCACGAGGCGGCCC	0.468										HNSCC(33;0.089)			G	77620259	C	G	77620259	3	3	211	1	0	0	0	0	1	0	0	0	17632	535	19	5	3075	5	ZFHX4	8	77620259	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	6875495	77620259	68743763	141	112328											
KCNQ3	3786	broad.mit.edu	37	chr8	133150175	133150175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagcatgtcgagatgccCggcagaatactgctcaatca	11	10	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr8:133150175C>T	uc003ytj.2	-	12	1882	c.1657G>A	c.(1657-1659)GGG>AGG	p.G553R	KCNQ3_uc010mdt.2_Missense_Mutation_p.G553R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	553					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCGAGATGCCCGGCAGAATAC	0.458													T	133150175	C	T	133150175	3	4	211	1	0	0	0	0	1	0	0	0	8084	652	23	1	977	1	KCNQ3	8	133150175	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	55529916	133150175	13213847	142	112329											
PTPRD	5789	broad.mit.edu	37	chr9	8500770	8500770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataccatcttcattggttcgAatcaacacggacaagctctc	6	12	4	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr9:8500770A>G	uc003zkk.2	-	23	2823	c.2112T>C	c.(2110-2112)ATT>ATC	p.I704I	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.I704I|PTPRD_uc003zkm.2_Silent_p.I691I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	704	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		CATTGGTTCGAATCAACACGG	0.473										TSP Lung(15;0.13)			G	8500770	A	G	8500770	2	3	211	1	0	0	0	0	0	0	0	1	12799	242	9	3		3	PTPRD	9	8500770	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08		8500770	132712661	143	112330											
IFNA17	3451	broad.mit.edu	37	chr9	21227998	21227998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctggggaagtccaaAgtcatgtctgtccttcaggc	10	13	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr9:21227998A>G	uc003zos.1	-	1	224	c.175T>C	c.(175-177)TTT>CTT	p.F59L	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	59					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				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGAAGTCCAAAGTCATGTCTG	0.512													G	21227998	A	G	21227998	3	3	211	1	0	0	0	0	1	0	0	0	7536	72	3	3	398	3	IFNA17	9	21227998	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	12727228	21227998	119985433	144	112331											
CCDC107	203260	broad.mit.edu	37	chr9	35661081	35661081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtggggcggggactacGgagaaggtgcagccaggctg	22	7	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr9:35661081G>A	uc011lox.1	+	5	815	c.749G>A	c.(748-750)CGG>CAG	p.R250Q	CCDC107_uc011loy.1_Missense_Mutation_p.R223Q|CCDC107_uc003zxj.2_3'UTR|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_Intron|C9orf100_uc003zxm.1_3'UTR	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107 precursor	250						integral to membrane					0	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGGGACTACGGAGAAGGTGC	0.582													A	35661081	G	A	35661081	3	1	211	1	0	0	0	0	1	0	0	0	2742	1116	39	1	767	1	CCDC107	9	35661081	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	14433083	35661081	105552350	145	112332											
PAPPA	5069	broad.mit.edu	37	chr9	118949522	118949522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagacaacaaagacccaCgctactttttctccttgaag	5	13	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr9:118949522C>T	uc004bjn.2	+	2	886	c.505C>T	c.(505-507)CGC>TGC	p.R169C	PAPPA_uc011lxp.1_Translation_Start_Site|PAPPA_uc011lxq.1_Translation_Start_Site	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	169					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CAAAGACCCACGCTACTTTTT	0.542													T	118949522	C	T	118949522	3	4	211	1	0	0	0	0	1	0	0	0	11432	536	19	1	511	1	PAPPA	9	118949522	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	83288441	118949522	22263909	146	112333											
TLR4	7099	broad.mit.edu	37	chr9	120475722	120475722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatttgaaacaaatgagtgAgttttcagtattcctatcac	6	7	2	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr9:120475722A>C	uc004bjz.2	+	3	1607	c.1316A>C	c.(1315-1317)GAG>GCG	p.E439A	TLR4_uc004bka.2_Missense_Mutation_p.E399A|TLR4_uc004bkb.2_Missense_Mutation_p.E239A	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	439	LRR 13.|Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						CAAATGAGTGAGTTTTCAGTA	0.388													C	120475722	A	C	120475722	3	2	211	1	0	0	0	0	1	0	0	0	15950	304	11	5	1326	5	TLR4	9	120475722	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	1526200	120475722	20737709	147	112334											
FCN2	2220	broad.mit.edu	37	chr9	137778358	137778358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcattcaaggtggccgaCgaggcggagaagtacaatct	13	8	3	2	rs142072878	byFrequency	TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr9:137778358C>T	uc004cfg.1	+	7	652	c.642C>T	c.(640-642)GAC>GAT	p.D214D	FCN2_uc004cfh.1_Silent_p.D176D	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	214	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGGTGGCCGACGAGGCGGAGA	0.567													T	137778358	C	T	137778358	2	4	211	1	0	0	0	0	0	0	0	1	5792	535	19	1		1	FCN2	9	137778358	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	17302636	137778358	3435073	148	112335											
MAMDC4	158056	broad.mit.edu	37	chr9	139747813	139747813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccctgcggctggcgggaCattagtacctcaggctacag	13	13	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr9:139747813C>T	uc004cjs.2	+	3	281	c.231C>T	c.(229-231)GAC>GAT	p.D77D	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	77	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		GCTGGCGGGACATTAGTACCT	0.677													T	139747813	C	T	139747813	2	4	211	1	0	0	0	0	0	0	0	1	9204	477	17	4		4	MAMDC4	9	139747813	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	1969455	139747813	1465618	149	112336											
CUBN	8029	broad.mit.edu	37	chr10	17113494	17113494	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagttgaggagaatgacTtggctttggggctggtggat	18	3	0	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:17113494T>G	uc001ioo.2	-	19	2608	c.2556A>C	c.(2554-2556)CAA>CAC	p.Q852H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	852	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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGAATGACTTGGCTTTGGG	0.423													G	17113494	T	G	17113494	3	3	211	1	0	0	0	0	1	0	0	0	4051	1606	56	5	8511	5	CUBN	10	17113494	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08		17113494	118421253	150	112337											
GPR158	57512	broad.mit.edu	37	chr10	25684866	25684866	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaattaaaggcctaggattCgttcttggagcctatgagtg	11	8	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:25684866C>T	uc001isj.2	+	3	1095	c.1035C>T	c.(1033-1035)TTC>TTT	p.F345F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	345	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GCCTAGGATTCGTTCTTGGAG	0.413													T	25684866	C	T	25684866	2	4	211	1	0	0	0	0	0	0	0	1	6663	883	31	1		1	GPR158	10	25684866	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	8571372	25684866	109849881	151	112338											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486355	37486355	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccattgaaatgcaaaAgtctgttccaaataaagcct	7	10	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:37486355A>C	uc001iza.1	+	29	2594	c.2495A>C	c.(2494-2496)AAG>ACG	p.K832T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GAAATGCAAAAGTCTGTTCCA	0.308													C	37486355	A	C	37486355	3	2	211	1	0	0	0	0	1	0	0	0	658	72	3	5	2609	5	ANKRD30A	10	37486355	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	11801489	37486355	98048392	152	112339											
ANKRD30A	91074	broad.mit.edu	37	chr10	37505169	37505169	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaagagcaagggaacTtcaaaaagatcactgtgaac	10	6	2	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:37505169T>G	uc001iza.1	+	32	2861	c.2762T>G	c.(2761-2763)CTT>CGT	p.L921R		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	977						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GCAAGGGAACTTCAAAAAGAT	0.318													G	37505169	T	G	37505169	3	3	211	1	0	0	0	0	1	0	0	0	658	1609	56	5	2888	5	ANKRD30A	10	37505169	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	18814	37505169	98029578	153	112340											
ZNF33B	7582	broad.mit.edu	37	chr10	43088461	43088461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagagctgacttatggcagAaagcttttccacactcatta	7	9	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:43088461A>G	uc001jaf.1	-	5	2052	c.1937T>C	c.(1936-1938)TTC>TCC	p.F646S	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.F534S|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	646	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTTATGGCAGAAAGCTTTTCC	0.398													G	43088461	A	G	43088461	3	3	211	1	0	0	0	0	1	0	0	0	17852	246	9	3	403	3	ZNF33B	10	43088461	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	5583292	43088461	92446286	154	112341											
HTR7	3363	broad.mit.edu	37	chr10	92508669	92508669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagctgagagcttccGgttgatattccggtactggc	13	11	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:92508669G>A	uc001kha.2	-	2	1465	c.1222C>T	c.(1222-1224)CGG>TGG	p.R408W	HTR7_uc001kgz.2_Missense_Mutation_p.R408W|HTR7_uc001khb.2_Missense_Mutation_p.R408W	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	408	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAGAGCTTCCGGTTGATATTC	0.493													A	92508669	G	A	92508669	3	1	211	1	0	0	0	0	1	0	0	0	7452	1115	39	1	233	1	HTR7	10	92508669	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	49420208	92508669	43026078	155	112342											
C10orf96	374355	broad.mit.edu	37	chr10	118116988	118116988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttactctccaaagaaaacTtaaaggtattaccttcatga	4	8	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:118116988T>C	uc001lck.2	+	6	796	c.545T>C	c.(544-546)CTT>CCT	p.L182P		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	182	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		CAAAGAAAACTTAAAGGTATT	0.274													C	118116988	T	C	118116988	3	2	211	1	0	0	0	0	1	0	0	0	1627	1609	56	3	563	3	C10orf96	10	118116988	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	25608319	118116988	17417759	156	112343											
EIF3A	8661	broad.mit.edu	37	chr10	120796691	120796691	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcgtctcttagatctcGtctttctcttagatcacgcc	6	14	5	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr10:120796691G>A	uc001ldu.2	-	21	4005	c.3859C>T	c.(3859-3861)CGA>TGA	p.R1287*	EIF3A_uc010qsu.1_Nonsense_Mutation_p.R1253*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1287	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTAGATCTCGTCTTTCTCTT	0.507													A	120796691	G	A	120796691	4	1	211	1	0	0	0	0	0	1	0	0	5012	1153	40	1	297	1	EIF3A	10	120796691	Nonsense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	2679703	120796691	14738056	157	112344											
UBQLNL	143630	broad.mit.edu	37	chr11	5536964	5536964	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttggatctgcattatctcTtggatcatagcaaggttcct	9	8	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:5536964T>C	uc001maz.3	-	1	993	c.708A>G	c.(706-708)CAA>CAG	p.Q236Q	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	236										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCATTATCTCTTGGATCATAG	0.468													C	5536964	T	C	5536964	2	2	211	1	0	0	0	0	0	0	0	1	16897	1606	56	3		3	UBQLNL	11	5536964	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08		5536964	129469552	158	112345											
DCHS1	8642	broad.mit.edu	37	chr11	6646065	6646065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagagacggagagaatgGcactgcctgggggtgtgtgc	19	7	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:6646065G>A	uc001mem.1	-	20	7591	c.7181C>T	c.(7180-7182)GCC>GTC	p.A2394V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2394	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAGAATGGCACTGCCTGG	0.562													A	6646065	G	A	6646065	3	1	211	1	0	0	0	0	1	0	0	0	4287	1203	42	2	2723	2	DCHS1	11	6646065	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	1109101	6646065	128360451	159	112346											
NELL1	4745	broad.mit.edu	37	chr11	21581738	21581738	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctatattgcagacaTtgatgaatgtgccttaagaa	8	7	0	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:21581738T>G	uc001mqe.2	+	17	1943	c.1790T>G	c.(1789-1791)ATT>AGT	p.I597S	NELL1_uc001mqf.2_Missense_Mutation_p.I550S|NELL1_uc009yid.2_Missense_Mutation_p.I625S|NELL1_uc010rdo.1_Missense_Mutation_p.I540S|NELL1_uc010rdp.1_Missense_Mutation_p.I310S|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	597	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						ATTGCAGACATTGATGAATGT	0.443													G	21581738	T	G	21581738	3	3	211	1	0	0	0	0	1	0	0	0	10333	1493	52	5	1856	5	NELL1	11	21581738	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	14935673	21581738	113424778	160	112347											
MUC15	143662	broad.mit.edu	37	chr11	26582734	26582734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctagaattcccaaaacTcacatcataaggttccggtg	8	10	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:26582734T>C	uc001mqx.2	-	4	1149	c.883A>G	c.(883-885)AGT>GGT	p.S295G	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S322G|MUC15_uc001mqy.2_Missense_Mutation_p.S272G	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	295	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTCCCAAAACTCACATCATAA	0.383													C	26582734	T	C	26582734	3	2	211	1	0	0	0	0	1	0	0	0	9972	1551	54	3	125	3	MUC15	11	26582734	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	5000996	26582734	108423782	161	112348											
DCDC1	341019	broad.mit.edu	37	chr11	31327864	31327864	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatcactcttggttgaAgtttgtgtctttgagacaat	8	6	3	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:31327864A>C	uc001msv.2	-	5	708	c.506T>G	c.(505-507)CTT>CGT	p.L169R	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	169	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TCTTGGTTGAAGTTTGTGTCT	0.373													C	31327864	A	C	31327864	3	2	211	1	0	0	0	0	1	0	0	0	4284	72	3	5	578	5	DCDC1	11	31327864	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	4745130	31327864	103678652	162	112349											
RAG2	5897	broad.mit.edu	37	chr11	36614733	36614733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgtctcctggtatgccaAgaaaaacagttccatttccc	6	11	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:36614733A>C	uc001mwv.3	-	2	1174	c.986T>G	c.(985-987)CTT>CGT	p.L329R	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	329					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			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGGTATGCCAAGAAAAACAGT	0.388									Familial_Hemophagocytic_Lymphohistiocytosis				C	36614733	A	C	36614733	3	2	211	1	0	0	0	0	1	0	0	0	13005	72	3	5	601	5	RAG2	11	36614733	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	5286869	36614733	98391783	163	112350											
OR4C6	219432	broad.mit.edu	37	chr11	55433005	55433005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggcctatgaccgctaCgtggccatctgtaagcccct	11	13	1	2	rs141756140	byFrequency	TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:55433005C>T	uc001nht.3	+	3	628	c.363C>T	c.(361-363)TAC>TAT	p.Y121Y	OR4C6_uc010rik.1_Silent_p.Y121Y	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						ATGACCGCTACGTGGCCATCT	0.552													T	55433005	C	T	55433005	2	4	211	1	0	0	0	0	0	0	0	1	11052	547	19	1		1	OR4C6	11	55433005	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	18818272	55433005	79573511	164	112351											
OR5L2	26338	broad.mit.edu	37	chr11	55594726	55594726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcaccactgtggctgAgttcattctccttggactat	8	11	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:55594726A>C	uc001nhy.1	+	1	32	c.32A>C	c.(31-33)GAG>GCG	p.E11A		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				ACTGTGGCTGAGTTCATTCTC	0.428										HNSCC(27;0.073)			C	55594726	A	C	55594726	3	2	211	1	0	0	0	0	1	0	0	0	11171	304	11	5	34	5	OR5L2	11	55594726	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	161721	55594726	79411790	165	112352											
OR5D16	390144	broad.mit.edu	37	chr11	55606858	55606858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacttttaatgagataAgcacactactcatcattctg	5	10	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:55606858A>C	uc010rio.1	+	1	631	c.631A>C	c.(631-633)AGC>CGC	p.S211R		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TAATGAGATAAGCACACTACT	0.443													C	55606858	A	C	55606858	3	2	211	1	0	0	0	0	1	0	0	0	11156	72	3	5	633	5	OR5D16	11	55606858	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	12132	55606858	79399658	166	112353											
OR5F1	338674	broad.mit.edu	37	chr11	55762007	55762007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagtgtataaatcacaAgaaaaaacaaaaagaggata	7	4	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:55762007A>G	uc010riv.1	-	1	95	c.95T>C	c.(94-96)CTT>CCT	p.L32P		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					ATAAATCACAAGAAAAAACAA	0.403													G	55762007	A	G	55762007	3	3	211	1	0	0	0	0	1	0	0	0	11158	72	3	3	852	3	OR5F1	11	55762007	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	155149	55762007	79244509	167	112354											
OR8K1	390157	broad.mit.edu	37	chr11	56113544	56113544	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaaaacacaatcacacGgcagtgaccaaggtgactga	11	9	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:56113544G>C	uc010rjg.1	+	1	30	c.30G>C	c.(28-30)ACG>ACC	p.T10T		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					ACAATCACACGGCAGTGACCA	0.373										HNSCC(65;0.19)			C	56113544	G	C	56113544	2	2	211	1	0	0	0	0	0	0	0	1	11243	1103	39	5		5	OR8K1	11	56113544	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	351537	56113544	78892972	168	112355											
OR5M10	390167	broad.mit.edu	37	chr11	56345194	56345194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggtgtggtttggggacaAcatcttcttatttcttgaaa	10	5	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:56345194A>C	uc001niz.1	-	1	4	c.4T>G	c.(4-6)TTG>GTG	p.L2V		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTGGGGACAACATCTTCTTA	0.373													C	56345194	A	C	56345194	3	2	211	1	0	0	0	0	1	0	0	0	11173	40	2	5	947	5	OR5M10	11	56345194	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	231650	56345194	78661322	169	112356											
OR8G2	26492	broad.mit.edu	37	chr11	124096230	124096230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgcagccatcatctgTcagctccatggaccagggga	11	13	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:124096230T>C	uc010saf.1	+	1	833	c.833T>C	c.(832-834)GTC>GCC	p.V278A		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	278						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCATCATCTGTCAGCTCCATG	0.483													C	124096230	T	C	124096230	3	2	211	1	0	0	0	0	1	0	0	0	11235	1667	58	3	835	3	OR8G2	11	124096230	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	67751036	124096230	10910286	170	112357											
STT3A	3703	broad.mit.edu	37	chr11	125482887	125482887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttccttgtttaggtgGcaagtgggatgatactggtc	12	6	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr11:125482887G>A	uc001qcd.2	+	13	1479	c.1369G>A	c.(1369-1371)GCA>ACA	p.A457T	STT3A_uc001qce.2_Missense_Mutation_p.A457T|STT3A_uc010sbg.1_Missense_Mutation_p.A365T|STT3A_uc009zbn.2_Missense_Mutation_p.A179T	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	457	Helical; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGTTTAGGTGGCAAGTGGGAT	0.403													A	125482887	G	A	125482887	3	1	211	1	0	0	0	0	1	0	0	0	15332	1203	42	2	1415	2	STT3A	11	125482887	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	1386657	125482887	9523629	171	112358											
OLR1	4973	broad.mit.edu	37	chr12	10313422	10313422	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taattttcagcaacttggcaTccaaagacaagcacttctct	5	11	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr12:10313422T>A	uc001qxo.1	-	4	641	c.527A>T	c.(526-528)GAT>GTT	p.D176V	OLR1_uc010sgz.1_Intron|OLR1_uc010sha.1_Intron	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	176	Extracellular (Potential).|C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						CAACTTGGCATCCAAAGACAA	0.428													A	10313422	T	A	10313422	3	1	211	1	0	0	0	0	1	0	0	0	10863	1435	50	5	306	5	OLR1	12	10313422	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08		10313422	123538473	172	112359											
RECQL	5965	broad.mit.edu	37	chr12	21627837	21627837	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctgtcccacattttccatCaccaccattgaacttattct	3	14	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr12:21627837C>A	uc001rex.2	-	12	1641	c.1293G>T	c.(1291-1293)GTG>GTT	p.V431V	RECQL_uc001rey.2_Silent_p.V431V	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	431	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			ovary(1)|lung(1)	2						CATTTTCCATCACCACCATTG	0.363								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	21627837	C	A	21627837	2	1	211	1	0	0	0	0	0	0	0	1	13201	813	29	5		5	RECQL	12	21627837	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	11314415	21627837	112224058	173	112360											
TPH2	121278	broad.mit.edu	37	chr12	72332847	72332847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcagcagtgcccgaagaGcatcagctacttggcagctc	11	12	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr12:72332847G>A	uc009zrw.1	+	1	222	c.81G>A	c.(79-81)GAG>GAA	p.E27E	TPH2_uc001swy.2_5'Flank	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	27					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	TGCCCGAAGAGCATCAGCTAC	0.473											OREG0021996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72332847	G	A	72332847	2	1	211	1	0	0	0	0	0	0	0	1	16399	962	34	2		2	TPH2	12	72332847	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	50705010	72332847	61519048	174	112361											
TRHDE	29953	broad.mit.edu	37	chr12	72969063	72969063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaataacttatttggacaaAggaagctggctgctggggaa	13	5	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr12:72969063A>C	uc001sxa.2	+	11	2055	c.2025A>C	c.(2023-2025)AAA>AAC	p.K675N		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	675	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						ATTTGGACAAAGGAAGCTGGC	0.343													C	72969063	A	C	72969063	3	2	211	1	0	0	0	0	1	0	0	0	16476	69	3	5	2067	5	TRHDE	12	72969063	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	636216	72969063	60882832	175	112362											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804385	75804385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagtattgctatcagaAgttggcatgcagagaagaaa	11	6	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr12:75804385A>C	uc001sxr.1	+	2	414	c.406A>C	c.(406-408)AGT>CGT	p.S136R	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.S136R|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.S29R	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	136						integral to membrane				ovary(1)	1						TGCTATCAGAAGTTGGCATGC	0.323													C	75804385	A	C	75804385	3	2	211	1	0	0	0	0	1	0	0	0	6443	72	3	5	412	5	GLIPR1L2	12	75804385	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	2835322	75804385	58047510	176	112363											
TUBA3C	7278	broad.mit.edu	37	chr13	19748138	19748138	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgccttctcccacgtaccaGtgcacaaaggcccgcttggc	9	16	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr13:19748138G>C	uc009zzj.2	-	5	1267	c.1218C>G	c.(1216-1218)CAC>CAG	p.H406Q		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	406					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		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)		CCACGTACCAGTGCACAAAGG	0.612													C	19748138	G	C	19748138	3	2	211	1	0	0	0	0	1	0	0	0	16743	1020	36	5	138	5	TUBA3C	13	19748138	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08		19748138	95421740	177	112364											
DGKH	160851	broad.mit.edu	37	chr13	42795478	42795478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaaagatatcttcatccGtcatgacatcagaggggctg	10	9	4	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr13:42795478G>A	uc001uyl.1	+	29	3542	c.3521G>A	c.(3520-3522)CGT>CAT	p.R1174H	DGKH_uc010tfh.1_Intron|DGKH_uc001uym.1_Intron|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.R1029H|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.R1029H|DGKH_uc001uyp.2_Intron	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1174	SAM.				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			ovary(2)	2		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)		ATCTTCATCCGTCATGACATC	0.418													A	42795478	G	A	42795478	3	1	211	1	0	0	0	0	1	0	0	0	4470	1145	40	1	3635	1	DGKH	13	42795478	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	23047340	42795478	72374400	178	112365											
C13orf31	144811	broad.mit.edu	37	chr13	44455464	44455464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacaggaagacattaAtgaaagcttttattgatcaa	8	7	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr13:44455464A>G	uc010acg.2	+	2	828	c.343A>G	c.(343-345)ATG>GTG	p.M115V	CCDC122_uc010acf.2_5'Flank|C13orf31_uc001uzf.3_Missense_Mutation_p.M115V	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	115											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)		GAAGACATTAATGAAAGCTTT	0.358													G	44455464	A	G	44455464	3	3	211	1	0	0	0	0	1	0	0	0	1726	101	4	3	345	3	C13orf31	13	44455464	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	1659986	44455464	70714414	179	112366											
C13orf18	80183	broad.mit.edu	37	chr13	46946153	46946153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatggggaggtggccaaaAtcccagggcttgtgggcaga	17	7	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr13:46946153A>C	uc010acl.2	-	3	1063	c.458T>G	c.(457-459)ATT>AGT	p.I153S	C13orf18_uc001vbf.3_Missense_Mutation_p.I86S|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Missense_Mutation_p.I18S|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.I153S|C13orf18_uc001vbh.3_Missense_Mutation_p.I153S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.I153S|C13orf18_uc010tga.1_Missense_Mutation_p.I86S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	153											0		Lung NSC(96;2.31e-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;2.19e-05)		GGTGGCCAAAATCCCAGGGCT	0.512													C	46946153	A	C	46946153	3	2	211	1	0	0	0	0	1	0	0	0	1720	101	4	5	1582	5	C13orf18	13	46946153	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	2490689	46946153	68223725	180	112367											
EDNRB	1910	broad.mit.edu	37	chr13	78472431	78472431	+	Frame_Shift_Del	DEL	T	T	-													tgcttttcctccaaggactgTttttcttcaaatgactggca							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr13:78472430_78472430GT>G	uc001vkp.1	-	7	1657	c.1504_1504AC>C	c.(1504-1506)cagfs	p.Q502fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Q412fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Q412fs|EDNRB_uc010aez.1_Intron	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	412					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)	TCCAAGGACTGTTTTTCTTCA	0.388													-	78472431	T	-	78472431	7	5	211	1	0	1	0	1	0	0	0	0	4920	1722	60	0	220	0	EDNRB	13	78472431	Frame_Shift_Del	DEL	T	TCGA-D7-6527-01A-11D-1800-08	31526278	78472431	36697447	181	112368											
OR4M1	441670	broad.mit.edu	37	chr14	20248567	20248567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaactagtcctatttgTtatatttctatccttctatt	4	9	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:20248567T>C	uc010tku.1	+	1	86	c.86T>C	c.(85-87)GTT>GCT	p.V29A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCCTATTTGTTATATTTCTA	0.403													C	20248567	T	C	20248567	3	2	211	1	0	0	0	0	1	0	0	0	11075	1725	60	3	88	3	OR4M1	14	20248567	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08		20248567	87100973	182	112369											
OR4K5	79317	broad.mit.edu	37	chr14	20389631	20389631	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccccattatttatacacTaaggaatagggatatgaagg	8	6	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:20389631T>G	uc010tkw.1	+	1	866	c.866T>G	c.(865-867)CTA>CGA	p.L289R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTATACACTAAGGAATAGG	0.398													G	20389631	T	G	20389631	3	3	211	1	0	0	0	0	1	0	0	0	11073	1522	53	5	868	5	OR4K5	14	20389631	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	141064	20389631	86959909	183	112370											
DHRS4L1	728635	broad.mit.edu	37	chr14	24505711	24505711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttgctggtctgatccaTgcacaaggcgcggctacgag	13	11	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:24505711T>G	uc010alc.2	+	1	2	c.2T>G	c.(1-3)ATG>AGG	p.M1R	DHRS4L1_uc010tnu.1_RNA	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	1							binding|oxidoreductase activity				0						GTCTGATCCATGCACAAGGCG	0.667													G	24505711	T	G	24505711	3	3	211	1	0	0	0	0	1	0	0	0	4493	1478	51	5	4	5	DHRS4L1	14	24505711	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	4116080	24505711	82843829	184	112371											
NFATC4	4776	broad.mit.edu	37	chr14	24839461	24839461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctccccagctctgtcccGccgtggcagcctgggggaag	14	16	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:24839461G>A	uc001wpc.2	+	2	1178	c.857G>A	c.(856-858)CGC>CAC	p.R286H	NFATC4_uc010tok.1_Missense_Mutation_p.R349H|NFATC4_uc010tol.1_Missense_Mutation_p.R349H|NFATC4_uc010alr.2_Missense_Mutation_p.R349H|NFATC4_uc010als.2_Missense_Mutation_p.R299H|NFATC4_uc010tom.1_Missense_Mutation_p.R299H|NFATC4_uc010ton.1_Missense_Mutation_p.R299H|NFATC4_uc010too.1_Missense_Mutation_p.R299H|NFATC4_uc010alt.2_Missense_Mutation_p.R318H|NFATC4_uc010top.1_Missense_Mutation_p.R318H|NFATC4_uc010toq.1_Missense_Mutation_p.R318H|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.R286H|NFATC4_uc010tos.1_Missense_Mutation_p.R216H|NFATC4_uc010tot.1_Missense_Mutation_p.R274H|NFATC4_uc010tou.1_Missense_Mutation_p.R216H|NFATC4_uc010tov.1_Missense_Mutation_p.R274H|NFATC4_uc010tow.1_Missense_Mutation_p.R216H|NFATC4_uc010alv.2_Missense_Mutation_p.R274H|NFATC4_uc010tox.1_Missense_Mutation_p.R216H|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	286	SP 2; approximate.|Pro-rich.|2 approximate SP repeats.				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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCTCTGTCCCGCCGTGGCAGC	0.701													A	24839461	G	A	24839461	3	1	211	1	0	0	0	0	1	0	0	0	10365	1087	38	1	1056	1	NFATC4	14	24839461	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	333750	24839461	82510079	185	112372											
AKAP6	9472	broad.mit.edu	37	chr14	33293932	33293932	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactttaacctgtgaagaaAatcttctaaaccttcatgaa	4	8	3	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:33293932A>C	uc001wrq.2	+	13	7083	c.6913A>C	c.(6913-6915)AAT>CAT	p.N2305H		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2305					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		CTGTGAAGAAAATCTTCTAAA	0.418													C	33293932	A	C	33293932	3	2	211	1	0	0	0	0	1	0	0	0	455	14	1	5	6959	5	AKAP6	14	33293932	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	8454471	33293932	74055608	186	112373											
FSCB	84075	broad.mit.edu	37	chr14	44975262	44975262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactttaacagaattctccGcaactgcagtggctgcctca	8	12	2	1	rs147180788		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:44975262G>A	uc001wvn.2	-	1	1238	c.929C>T	c.(928-930)GCG>GTG	p.A310V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	310						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		AGAATTCTCCGCAACTGCAGT	0.527													A	44975262	G	A	44975262	3	1	211	1	0	0	0	0	1	0	0	0	6066	1087	38	1	1552	1	FSCB	14	44975262	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	11681330	44975262	62374278	187	112374											
RPL10L	140801	broad.mit.edu	37	chr14	47120380	47120380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagggatgaggcacttcTtggccaccatgtcttcaaat	9	11	4	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:47120380T>G	uc001wwg.2	-	1	649	c.560A>C	c.(559-561)AAG>ACG	p.K187T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	187					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GAGGCACTTCTTGGCCACCAT	0.507													G	47120380	T	G	47120380	3	3	211	1	0	0	0	0	1	0	0	0	13556	1609	56	5	88	5	RPL10L	14	47120380	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	2145118	47120380	60229160	188	112375											
MPP5	64398	broad.mit.edu	37	chr14	67790529	67790529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaggcaagaatccaaaGgtaaagttttcacactattg	8	6	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:67790529G>A	uc001xjc.2	+	14	2317	c.1851G>A	c.(1849-1851)AAG>AAA	p.K617K	MPP5_uc001xjd.2_Silent_p.K583K|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	617	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAATCCAAAGGTAAAGTTTT	0.388													A	67790529	G	A	67790529	2	1	211	1	0	0	0	0	0	0	0	1	9737	1014	35	4		4	MPP5	14	67790529	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	20670149	67790529	39559011	189	112376											
KCNK10	54207	broad.mit.edu	37	chr14	88729593	88729593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacacagacatgatcccGcaggaattccgccttctcca	7	16	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:88729593G>A	uc001xwo.2	-	2	797	c.340C>T	c.(340-342)CGG>TGG	p.R114W	KCNK10_uc001xwm.2_Missense_Mutation_p.R119W|KCNK10_uc001xwn.2_Missense_Mutation_p.R119W	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	114					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						ACATGATCCCGCAGGAATTCC	0.582													A	88729593	G	A	88729593	3	1	211	1	0	0	0	0	1	0	0	0	8059	1086	38	1	1300	1	KCNK10	14	88729593	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	20939064	88729593	18619947	190	112377											
C14orf159	80017	broad.mit.edu	37	chr14	91655360	91655360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accactgggttccccacacaTttcaatcatgagcctccaga	6	15	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:91655360T>G	uc001xzb.2	+	11	1794	c.1026T>G	c.(1024-1026)CAT>CAG	p.H342Q	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyx.2_Missense_Mutation_p.H330Q|C14orf159_uc001xyw.2_Missense_Mutation_p.H347Q|C14orf159_uc001xzc.2_Missense_Mutation_p.H342Q|C14orf159_uc001xza.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyv.2_Missense_Mutation_p.H347Q|C14orf159_uc001xyz.2_Missense_Mutation_p.H218Q|C14orf159_uc001xze.2_Missense_Mutation_p.H342Q	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	342						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TCCCCACACATTTCAATCATG	0.572													G	91655360	T	G	91655360	3	3	211	1	0	0	0	0	1	0	0	0	1755	1490	52	5	1067	5	C14orf159	14	91655360	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	2925767	91655360	15694180	191	112378											
TECPR2	9895	broad.mit.edu	37	chr14	102910107	102910107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagggccctcctgtaccGggagggcgtgagcagcttct	16	12	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr14:102910107G>A	uc001ylw.1	+	12	3024	c.2876G>A	c.(2875-2877)CGG>CAG	p.R959Q	TECPR2_uc010awl.2_Missense_Mutation_p.R959Q|TECPR2_uc010txx.1_Missense_Mutation_p.R122Q	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	959	TECPR 1.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						CTCCTGTACCGGGAGGGCGTG	0.607													A	102910107	G	A	102910107	3	1	211	1	0	0	0	0	1	0	0	0	15741	1116	39	1	2918	1	TECPR2	14	102910107	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	11254747	102910107	4439433	192	112379											
RYR3	6263	broad.mit.edu	37	chr15	34028450	34028450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagtcacttgaggccttCcatgttacagcaactcctgc	8	14	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr15:34028450C>T	uc001zhi.2	+	49	7509	c.7439C>T	c.(7438-7440)TCC>TTC	p.S2480F	RYR3_uc010bar.2_Missense_Mutation_p.S2480F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2480	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TTGAGGCCTTCCATGTTACAG	0.373													T	34028450	C	T	34028450	3	4	211	1	0	0	0	0	1	0	0	0	13770	855	30	4	7633	4	RYR3	15	34028450	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08		34028450	68502942	193	112380											
C15orf23	90417	broad.mit.edu	37	chr15	40675071	40675071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccccgcccctggacagagTtttccgtacaacatggctgt	10	14	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr15:40675071T>G	uc001zll.2	+	1	150	c.35T>G	c.(34-36)GTT>GGT	p.V12G	C15orf23_uc010ucp.1_Missense_Mutation_p.V12G|C15orf23_uc001zlo.2_Missense_Mutation_p.V12G|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	12						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CTGGACAGAGTTTTCCGTACA	0.592													G	40675071	T	G	40675071	3	3	211	1	0	0	0	0	1	0	0	0	1785	1725	60	5	37	5	C15orf23	15	40675071	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	6646621	40675071	61856321	194	112381											
CTDSPL2	51496	broad.mit.edu	37	chr15	44813530	44813530	+	Frame_Shift_Del	DEL	G	G	-													tttctaatggaatccctataGaaagttggtttatggataaa							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr15:44813529_44813529AG>A	uc001ztr.3	+	11	1676	c.1260_1260AG>A	c.(1258-1260)atafs	p.I420fs	CTDSPL2_uc001zts.3_Frame_Shift_Del_p.I420fs|CTDSPL2_uc001ztt.3_Frame_Shift_Del_p.I420fs|CTDSPL2_uc010bdv.3_Frame_Shift_Del_p.I348fs	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA.	420	FCP1 homology.						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)		GAATCCCTATAGAAAGTTGGT	0.279													-	44813530	G	-	44813530	7	5	211	1	0	1	0	1	0	0	0	0	4006	943	33	0	1303	0	CTDSPL2	15	44813530	Frame_Shift_Del	DEL	G	TCGA-D7-6527-01A-11D-1800-08	4138459	44813530	57717862	195	112382											
IGF1R	3480	broad.mit.edu	37	chr15	99251142	99251142	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattgagaaaaatgctgaccTctgttacctctccactgtgg	9	10	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr15:99251142T>A	uc002bul.2	+	2	496	c.446T>A	c.(445-447)CTC>CAC	p.L149H	IGF1R_uc010urq.1_Missense_Mutation_p.L149H|IGF1R_uc010bon.2_Missense_Mutation_p.L149H	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	149					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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	AATGCTGACCTCTGTTACCTC	0.507													A	99251142	T	A	99251142	3	1	211	1	0	0	0	0	1	0	0	0	7571	1551	54	5	452	5	IGF1R	15	99251142	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	54437612	99251142	3280250	196	112383											
OTOA	146183	broad.mit.edu	37	chr16	21709177	21709177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatcgtttgaagaaattaCgaaaattagtcctatagaag	7	6	0	3	rs145435704	byFrequency	TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr16:21709177C>T	uc002djh.2	+	9	822	c.821C>T	c.(820-822)ACG>ATG	p.T274M	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.T195M	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	274					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		GAAGAAATTACGAAAATTAGT	0.348													T	21709177	C	T	21709177	3	4	211	1	0	0	0	0	1	0	0	0	11302	536	19	1	889	1	OTOA	16	21709177	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08		21709177	68645576	197	112384											
JMJD5	79831	broad.mit.edu	37	chr16	27226219	27226219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtatatccaggagatcGctggctgccgaactgtccca	12	11	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr16:27226219G>A	uc002doh.2	+	4	870	c.688G>A	c.(688-690)GCT>ACT	p.A230T	JMJD5_uc010vcn.1_Missense_Mutation_p.A268T|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	230					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						CCAGGAGATCGCTGGCTGCCG	0.393													A	27226219	G	A	27226219	3	1	211	1	0	0	0	0	1	0	0	0	7952	1087	38	1	816	1	JMJD5	16	27226219	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	5517042	27226219	63128534	198	112385											
CDH11	1009	broad.mit.edu	37	chr16	65016134	65016134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggccattgctgataaacTtcgggtcgatgtgcacgttg	13	8	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr16:65016134T>G	uc002eoi.2	-	8	1504	c.1070A>C	c.(1069-1071)AAG>ACG	p.K357T	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K357T|CDH11_uc010vin.1_Missense_Mutation_p.K231T|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	357	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTGATAAACTTCGGGTCGAT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65016134	T	G	65016134	3	3	211	1	0	0	0	0	1	0	0	0	3097	1609	56	5	1344	5	CDH11	16	65016134	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	37789915	65016134	25338619	199	112386											
CES2	8824	broad.mit.edu	37	chr16	66972139	66972139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggatggaaccacccatccGgccatgtaagctctccaagg	11	13	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr16:66972139G>A	uc002eqr.2	+	2	1468	c.468G>A	c.(466-468)CCG>CCA	p.P156P	CES2_uc002eqq.2_Silent_p.P156P|CES2_uc002eqs.2_5'UTR	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	92					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCACCCATCCGGCCATGTAAG	0.527													A	66972139	G	A	66972139	2	1	211	1	0	0	0	0	0	0	0	1	3270	1103	39	1		1	CES2	16	66972139	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	1956005	66972139	23382614	200	112387											
TP53	7157	broad.mit.edu	37	chr17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-													tccattgcttgggacggcaaGggggactgtagatgggtgaa					rs11575998		TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr17:7579585delG	uc002gim.2	-	4	296	c.102delC	c.(100-102)CCCfs	p.P34fs	TP53_uc002gig.1_Frame_Shift_Del_p.P34fs|TP53_uc002gih.2_Frame_Shift_Del_p.P34fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P34fs|TP53_uc010cni.1_Frame_Shift_Del_p.P34fs|TP53_uc002gij.2_Frame_Shift_Del_p.P34fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P49fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	34	Transcription activation (acidic).|Interaction with HRMT1L2.		P -> L (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.P34L(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGGACGGCAAGGGGGACTGTA	0.383		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7579585	G	-	7579585	7	5	211	1	0	1	0	1	0	0	0	0	16378	987	35	0	1200	0	TP53	17	7579585	Frame_Shift_Del	DEL	G	TCGA-D7-6527-01A-11D-1800-08		7579585	73615625	201	112388											
KRT28	162605	broad.mit.edu	37	chr17	38955754	38955754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagtcatgatcaagtccaCggcaagatccaggtccgtat	9	10	2	2	rs140121032	byFrequency	TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr17:38955754C>T	uc002hvh.1	-	1	458	c.392G>A	c.(391-393)CGT>CAT	p.R131H		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	131	Rod.|Linker 1.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				ATCAAGTCCACGGCAAGATCC	0.403													T	38955754	C	T	38955754	3	4	211	1	0	0	0	0	1	0	0	0	8465	536	19	1	1034	1	KRT28	17	38955754	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	31376169	38955754	42239456	202	112389											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305930	39305930	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcaggtggtcctgcaGcaggtggtctggcagcagct	17	11	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr17:39305930G>T	uc002hwb.2	-	1	125	c.90C>A	c.(88-90)TGC>TGA	p.C30*		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	30	4.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGTCCTGCAGCAGGTGGTCT	0.557													T	39305930	G	T	39305930	4	4	211	1	0	0	0	0	0	1	0	0	8554	963	34	5	459	5	KRTAP4-5	17	39305930	Nonsense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	350176	39305930	41889280	203	112390											
PLCD3	113026	broad.mit.edu	37	chr17	43196223	43196223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaatgagctgctgggcgCgggccagtgtggcgccctcc	16	13	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr17:43196223C>T	uc002iib.2	-	5	986	c.872G>A	c.(871-873)CGC>CAC	p.R291H		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	291					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CTGCTGGGCGCGGGCCAGTGT	0.428													T	43196223	C	T	43196223	3	4	211	1	0	0	0	0	1	0	0	0	12032	768	27	1	1540	1	PLCD3	17	43196223	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	3890293	43196223	37998987	204	112391											
DLGAP1	9229	broad.mit.edu	37	chr18	3879367	3879379	+	Frame_Shift_Del	DEL	CTGTGAGGCCGAG	CTGTGAGGCCGAG	-													ttgtaggcctccaggaagtaCtgtgaggccgagcggtcggg							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr18:3879366_3879378ACTGTGAGGCCGAG>A	uc002kmf.3	-	3	1218_1230	c.691_703CTCGGCCTCACAGT>T	c.(691-705)tcggcctcacagtacfs	p.S231fs	DLGAP1_uc010wyz.2_Frame_Shift_Del_p.S231fs|DLGAP1_uc002kmk.2_Frame_Shift_Del_p.S231fs|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	231					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.S231S(2)		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)				TCCAGGAAGTACTGTGAGGCCGAGCGGTCGGGG	0.653													-	3879379	CTGTGAGGCCGAG	-	3879367	7	5	211	1	0	1	0	1	0	0	0	0	4559	564	20	0	2326	0	DLGAP1	18	3879367	Frame_Shift_Del	DEL	CTGTGAGGCCGAG	TCGA-D7-6527-01A-11D-1800-08		3879367	74197881	205	112392											
LAMA3	3909	broad.mit.edu	37	chr18	21331030	21331030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcatctccaaagcccagcGagatccaactgtcactcggc	7	17	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr18:21331030G>A	uc002kuq.2	+	5	919	c.833G>A	c.(832-834)CGA>CAA	p.R278Q	LAMA3_uc010dlv.1_Missense_Mutation_p.R278Q|LAMA3_uc002kur.2_Missense_Mutation_p.R278Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	278	Laminin N-terminal.				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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	AAAGCCCAGCGAGATCCAACT	0.428													A	21331030	G	A	21331030	3	1	211	1	0	0	0	0	1	0	0	0	8607	1058	37	1	851	1	LAMA3	18	21331030	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	17451663	21331030	56746218	206	112393											
ASXL3	80816	broad.mit.edu	37	chr18	31322938	31322938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcatccactagcacatcTgtcagtggcgggaggaacac	12	12	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr18:31322938T>C	uc010dmg.1	+	12	3181	c.3126T>C	c.(3124-3126)TCT>TCC	p.S1042S	ASXL3_uc002kxq.2_Silent_p.S749S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CTAGCACATCTGTCAGTGGCG	0.557													C	31322938	T	C	31322938	2	2	211	1	0	0	0	0	0	0	0	1	1068	1567	55	3		3	ASXL3	18	31322938	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	9991908	31322938	46754310	207	112394											
TCEB3C	162699	broad.mit.edu	37	chr18	44549211	44549211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccttccagaacgggttcaAgaaccgagtaggggacccct	11	13	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr18:44549211A>G	uc010dnr.2	-	1	1088	c.1088T>C	c.(1087-1089)CTT>CCT	p.L363P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_001100817	NP_001094287	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	363	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						AACGGGTTCAAGAACCGAGTA	0.612													G	44549211	A	G	44549211	3	3	211	1	0	0	0	0	1	0	0	0	15680	72	3	3	556	3	TCEB3C	18	44549211	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	13226273	44549211	33528037	208	112395											
DCC	1630	broad.mit.edu	37	chr18	51013247	51013247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtctcccacctgtggatatCcccacccgcagttcactctc	6	19	3	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr18:51013247C>A	uc002lfe.1	+	26	4404	c.3817C>A	c.(3817-3819)CCC>ACC	p.P1273T	DCC_uc010dpf.1_Missense_Mutation_p.P908T	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1273	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGTGGATATCCCCACCCGCA	0.547													A	51013247	C	A	51013247	3	1	211	1	0	0	0	0	1	0	0	0	4282	855	30	5	3919	5	DCC	18	51013247	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	6464036	51013247	27064001	209	112396											
ACP5	54	broad.mit.edu	37	chr19	11685996	11685996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaccttgcgctggtgCcgctttgaggggtccatgaa	16	9	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:11685996C>T	uc002msg.3	-	5	953	c.807G>A	c.(805-807)CGG>CGA	p.R269R	uc002msf.2_Intron|ACP5_uc002msh.3_Silent_p.R269R|ACP5_uc002msi.3_Silent_p.R269R|ACP5_uc002msj.3_Silent_p.R269R	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	269					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						TGCGCTGGTGCCGCTTTGAGG	0.562													T	11685996	C	T	11685996	2	4	211	1	0	0	0	0	0	0	0	1	164	726	26	2		2	ACP5	19	11685996	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08		11685996	47442987	210	112397											
RTBDN	83546	broad.mit.edu	37	chr19	12939563	12939563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagggcacgttggaggtgTtccaggaaggattcgcatct	15	8	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:12939563T>C	uc002mvi.2	-	4	403	c.273A>G	c.(271-273)GAA>GAG	p.E91E	RTBDN_uc002mvh.1_Silent_p.E123E|RTBDN_uc002mvj.2_Silent_p.E123E	NM_001080997	NP_001074466	Q9BSG5	RTBDN_HUMAN	retbindin isoform 1	91						extracellular region					0						GTTGGAGGTGTTCCAGGAAGG	0.622													C	12939563	T	C	12939563	2	2	211	1	0	0	0	0	0	0	0	1	13717	1722	60	3		3	RTBDN	19	12939563	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	1253567	12939563	46189420	211	112398											
CYP4F3	4051	broad.mit.edu	37	chr19	15760856	15760856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtttccgcagggcctgcCgcctggtgcacgacttcaca	12	15	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:15760856C>T	uc002nbj.2	+	7	831	c.781C>T	c.(781-783)CGC>TGC	p.R261C	CYP4F3_uc010xok.1_Missense_Mutation_p.R261C|CYP4F3_uc010xol.1_Missense_Mutation_p.R261C|CYP4F3_uc010xom.1_Missense_Mutation_p.R112C|CYP4F3_uc002nbk.2_Missense_Mutation_p.R261C|CYP4F3_uc010xon.1_5'UTR	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	261					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			ovary(3)	3						CAGGGCCTGCCGCCTGGTGCA	0.577													T	15760856	C	T	15760856	3	4	211	1	0	0	0	0	1	0	0	0	4190	652	23	1	803	1	CYP4F3	19	15760856	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	2821293	15760856	43368127	212	112399											
KIAA1683	80726	broad.mit.edu	37	chr19	18376589	18376589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaccccagttcccggAtgtggttgagccaggcacct	14	13	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:18376589A>G	uc002nin.2	-	3	1977	c.1761T>C	c.(1759-1761)CAT>CAC	p.H587H	KIAA1683_uc010ebn.2_Silent_p.H587H|KIAA1683_uc010xqe.1_Silent_p.H541H	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	587						mitochondrion				ovary(2)	2						CAGTTCCCGGATGTGGTTGAG	0.557													G	18376589	A	G	18376589	2	3	211	1	0	0	0	0	0	0	0	1	8251	330	12	3		3	KIAA1683	19	18376589	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	2615733	18376589	40752394	213	112400											
ZNF492	57615	broad.mit.edu	37	chr19	22847417	22847417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtgaagaatgtggtAaggcctttagccagttatcc	10	7	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:22847417A>G	uc002nqw.3	+	4	1190	c.946A>G	c.(946-948)AAG>GAG	p.K316E		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	316	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGAATGTGGTAAGGCCTTTAG	0.383													G	22847417	A	G	22847417	3	3	211	1	0	0	0	0	1	0	0	0	17940	363	13	3	956	3	ZNF492	19	22847417	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	4470828	22847417	36281566	214	112401											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698476	29698476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccaacaatcaccatatcGtcactggtgaactcatacgt	5	12	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:29698476G>A	uc002nsd.2	-	2	915	c.804C>T	c.(802-804)GAC>GAT	p.D268D		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	268	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCACCATATCGTCACTGGTGA	0.473													A	29698476	G	A	29698476	2	1	211	1	0	0	0	0	0	0	0	1	17018	1136	40	1		1	UQCRFS1	19	29698476	Silent	SNP	G	TCGA-D7-6527-01A-11D-1800-08	6851059	29698476	29430507	215	112402											
ZNF536	9745	broad.mit.edu	37	chr19	31040275	31040275	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccttggcgggcctgccaaAgccggagcgggggccccaga	16	16	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:31040275A>T	uc002nsu.1	+	4	3887	c.3749A>T	c.(3748-3750)AAG>ATG	p.K1250M	ZNF536_uc010edd.1_Missense_Mutation_p.K1250M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGCCTGCCAAAGCCGGAGCGG	0.622													T	31040275	A	T	31040275	3	4	211	1	0	0	0	0	1	0	0	0	17971	72	3	5	3759	5	ZNF536	19	31040275	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	1341799	31040275	28088708	216	112403											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271381	36271381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggatcggagctggtggcGgggcaagcgaggcttccagg	20	8	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:36271381G>A	uc002obr.1	+	8	768	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	ARHGAP33_uc002obs.1_Missense_Mutation_p.R228Q|ARHGAP33_uc002obt.1_Missense_Mutation_p.R92Q|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	228	SH3.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						AGCTGGTGGCGGGGCAAGCGA	0.652													A	36271381	G	A	36271381	3	1	211	1	0	0	0	0	1	0	0	0	882	1116	39	1	713	1	ARHGAP33	19	36271381	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	5231106	36271381	22857602	217	112404											
ZFP14	57677	broad.mit.edu	37	chr19	36832163	36832163	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtatgaattctcaggtgttGactaagtgttgagcgacgaa	12	5	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:36832163G>C	uc002odx.1	-	4	658	c.565C>G	c.(565-567)CAA>GAA	p.Q189E	ZFP14_uc010xtd.1_Missense_Mutation_p.Q190E|ZFP14_uc010eex.1_Missense_Mutation_p.Q189E	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	189	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					CTCAGGTGTTGACTAAGTGTT	0.408													C	36832163	G	C	36832163	3	2	211	1	0	0	0	0	1	0	0	0	17636	1299	45	5	1040	5	ZFP14	19	36832163	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	560782	36832163	22296820	218	112405											
ZNF571	51276	broad.mit.edu	37	chr19	38056875	38056875	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcatgttgaataaggcatGacaggtagctgaaaccttgt	10	8	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:38056875G>A	uc002ogt.2	-	4	556	c.455C>T	c.(454-456)TCA>TTA	p.S152L	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.S152L	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	152	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATAAGGCATGACAGGTAGCT	0.343													A	38056875	G	A	38056875	3	1	211	1	0	0	0	0	1	0	0	0	18000	1294	45	4	1378	4	ZNF571	19	38056875	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	1224712	38056875	21072108	219	112406											
CCDC155	147872	broad.mit.edu	37	chr19	49918217	49918217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggccctcaggttgaccagAagagaggaagaggaggatgc	16	7	1	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:49918217A>C	uc002pnm.1	+	17	1512	c.1338A>C	c.(1336-1338)AGA>AGC	p.R446S	CCDC155_uc010emx.1_Missense_Mutation_p.R417S	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	446						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2						GGTTGACCAGAAGAGAGGAAG	0.602													C	49918217	A	C	49918217	3	2	211	1	0	0	0	0	1	0	0	0	2788	243	9	5	1400	5	CCDC155	19	49918217	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	11861342	49918217	9210766	220	112407											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130978	52130978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcccaggagcaggagGggcccagcaactgtgggagg	17	12	0	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:52130978G>C	uc002pxe.2	-	6	1158	c.1019C>G	c.(1018-1020)CCC>CGC	p.P340R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	340	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGAGCAGGAGGGGCCCAGCAA	0.657													C	52130978	G	C	52130978	3	2	211	1	0	0	0	0	1	0	0	0	14311	1232	43	5	652	5	SIGLEC5	19	52130978	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	2212761	52130978	6998005	221	112408											
ZNF416	55659	broad.mit.edu	37	chr19	58084932	58084932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtgcaaaatgtcggTcaggaatgggacacacatgt	14	7	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:58084932T>C	uc002qpf.2	-	4	511	c.340A>G	c.(340-342)ACC>GCC	p.T114A	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AAAATGTCGGTCAGGAATGGG	0.512													C	58084932	T	C	58084932	3	2	211	1	0	0	0	0	1	0	0	0	17890	1667	58	3	1448	3	ZNF416	19	58084932	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	5953954	58084932	1044051	222	112409											
ZSCAN4	201516	broad.mit.edu	37	chr19	58190208	58190208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcatccacataccacCgccatatgaggactcatgag	8	14	2	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr19:58190208C>T	uc002qpu.2	+	5	1934	c.1237C>T	c.(1237-1239)CGC>TGC	p.R413C		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	413	C2H2-type 4.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		CACATACCACCGCCATATGAG	0.458													T	58190208	C	T	58190208	3	4	211	1	0	0	0	0	1	0	0	0	18234	652	23	1	1247	1	ZSCAN4	19	58190208	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	105276	58190208	938775	223	112410											
DEFB118	117285	broad.mit.edu	37	chr20	29960728	29960728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaatgcaaagatggagaaGcagtgaaagatacatgcaaa	10	5	0	4			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr20:29960728G>T	uc002wvr.2	+	2	153	c.127G>T	c.(127-129)GCA>TCA	p.A43S		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	beta-defensin 118 precursor	43					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				ovary(3)|pancreas(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGATGGAGAAGCAGTGAAAGA	0.438													T	29960728	G	T	29960728	3	4	211	1	0	0	0	0	1	0	0	0	4406	971	34	5	133	5	DEFB118	20	29960728	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08		29960728	33064792	224	112411											
NCOA5	57727	broad.mit.edu	37	chr20	44695694	44695694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatctaagggttcttacTttgtctgtttgttgaccaca	7	7	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr20:44695694T>C	uc002xrd.2	-	4	1157	c.629A>G	c.(628-630)AAA>AGA	p.K210R	NCOA5_uc002xrc.2_Missense_Mutation_p.K98R|NCOA5_uc002xre.2_Missense_Mutation_p.K210R	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				GGGTTCTTACTTTGTCTGTTT	0.423													C	44695694	T	C	44695694	3	2	211	1	0	0	0	0	1	0	0	0	10232	1623	56	3	1126	3	NCOA5	20	44695694	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	14734966	44695694	18329826	225	112412											
ZNF217	7764	broad.mit.edu	37	chr20	52198276	52198276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctactgggtaacttgggatCcgcgtccacggagggcgctt	15	11	0	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr20:52198276C>T	uc002xwq.3	-	1	1361	c.1090G>A	c.(1090-1092)GAT>AAT	p.D364N	ZNF217_uc010gij.1_Missense_Mutation_p.D356N	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	364					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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			AACTTGGGATCCGCGTCCACG	0.567													T	52198276	C	T	52198276	3	4	211	1	0	0	0	0	1	0	0	0	17769	855	30	4	2072	4	ZNF217	20	52198276	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	7502582	52198276	10827244	226	112413											
ZNF217	7764	broad.mit.edu	37	chr20	52198321	52198321	+	Nonsense_Mutation	SNP	C	C	A													gtgggagtgtttgcacttctCtttctcttgcgagaggcctg					rs141467941	byFrequency	TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr20:52198321C>A	uc002xwq.3	-	1	1316	c.1045G>T	c.(1045-1047)GAG>TAG	p.E349*	ZNF217_uc010gij.1_Nonsense_Mutation_p.E341*	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	349					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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			TTGCACTTCTCTTTCTCTTGC	0.572													A	52198321	C	A	52198321	4	1	211	1	0	0	0	0	0	1	0	0	17769	922	32	5	2117	5	ZNF217	20	52198321	Nonsense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	45	52198321	10827199	227	112414	529	2									
ZNF217	7764	broad.mit.edu	37	chr20	52198327	52198327	+	Missense_Mutation	SNP	C	C	G													gtgtttgcacttctctttctCttgcgagaggcctgcacaac							TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr20:52198327C>G	uc002xwq.3	-	1	1310	c.1039G>C	c.(1039-1041)GAG>CAG	p.E347Q	ZNF217_uc010gij.1_Missense_Mutation_p.E339Q	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	347					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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			TTCTCTTTCTCTTGCGAGAGG	0.567													G	52198327	C	G	52198327	3	3	211	1	0	0	0	0	1	0	0	0	17769	922	32	5	2123	5	ZNF217	20	52198327	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	6	52198327	10827193	228	112415	529	2									
TPTE	7179	broad.mit.edu	37	chr21	10952958	10952958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcacaattttcttaatcTtgctgctgcaaaaagaagta	6	7	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr21:10952958T>C	uc002yip.1	-	9	607	c.239A>G	c.(238-240)AAG>AGG	p.K80R	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K62R|TPTE_uc002yir.1_Missense_Mutation_p.K42R|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	80					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		TTTCTTAATCTTGCTGCTGCA	0.254													C	10952958	T	C	10952958	3	2	211	1	0	0	0	0	1	0	0	0	16427	1609	56	3	1480	3	TPTE	21	10952958	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08		10952958	37176937	229	112416											
SAMSN1	64092	broad.mit.edu	37	chr21	15858241	15858241	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgcgtgttcagtcacTtggctctgtgataataatct	11	7	4	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr21:15858241T>G	uc002yju.1	-	8	1196	c.1114A>C	c.(1114-1116)AGT>CGT	p.S372R	SAMSN1_uc010gky.1_Missense_Mutation_p.S204R|SAMSN1_uc002yjv.1_Missense_Mutation_p.S440R	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	372					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GTTCAGTCACTTGGCTCTGTG	0.363													G	15858241	T	G	15858241	3	3	211	1	0	0	0	0	1	0	0	0	13830	1609	56	5	11	5	SAMSN1	21	15858241	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	4905283	15858241	32271654	230	112417											
JAM2	58494	broad.mit.edu	37	chr21	27062235	27062235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccagattagagtggaAgaaactgggtcggagtgtct	13	7	1	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr21:27062235A>C	uc002ylp.1	+	3	736	c.191A>C	c.(190-192)AAG>ACG	p.K64T	JAM2_uc011ace.1_Missense_Mutation_p.K64T|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.K64T|JAM2_uc010gli.1_Missense_Mutation_p.K64T	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	64	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0						TTAGAGTGGAAGAAACTGGGT	0.423													C	27062235	A	C	27062235	3	2	211	1	0	0	0	0	1	0	0	0	7943	72	3	5	201	5	JAM2	21	27062235	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	11203994	27062235	21067660	231	112418											
APP	351	broad.mit.edu	37	chr21	27264118	27264118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactgtcgctatgacaacAccgcccaccatgagtccaat	6	15	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr21:27264118A>G	uc002ylz.2	-	17	2327	c.2127T>C	c.(2125-2127)GGT>GGC	p.G709G	APP_uc011acg.1_Silent_p.G217G|APP_uc010glk.2_Silent_p.G685G|APP_uc002yma.2_Silent_p.G690G|APP_uc011ach.1_Silent_p.G653G|APP_uc002ymb.2_Silent_p.G634G|APP_uc010glj.2_Silent_p.G578G|APP_uc011aci.1_Silent_p.G599G	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	709	Helical; (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				CTATGACAACACCGCCCACCA	0.403													G	27264118	A	G	27264118	2	3	211	1	0	0	0	0	0	0	0	1	815	146	6	3		3	APP	21	27264118	Silent	SNP	A	TCGA-D7-6527-01A-11D-1800-08	201883	27264118	20865777	232	112419											
ADAMTS5	11096	broad.mit.edu	37	chr21	28304387	28304387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcagcttgcacacatccGctggcaggacacctgcatat	10	13	1	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr21:28304387G>A	uc002ymg.2	-	6	2714	c.1985C>T	c.(1984-1986)GCG>GTG	p.A662V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	662	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCACACATCCGCTGGCAGGAC	0.488													A	28304387	G	A	28304387	3	1	211	1	0	0	0	0	1	0	0	0	269	1087	38	1	819	1	ADAMTS5	21	28304387	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	1040269	28304387	19825508	233	112420											
NAGA	4668	broad.mit.edu	37	chr22	42462769	42462769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagaaggcgatggggCggcctgtggcattcagggca	19	8	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr22:42462769C>T	uc003bbx.2	-	6	679	c.542G>A	c.(541-543)CGC>CAC	p.R181H	NAGA_uc003bby.2_Missense_Mutation_p.R181H|NAGA_uc003bbw.3_Missense_Mutation_p.R181H	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	181					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)	1						GGCGATGGGGCGGCCTGTGGC	0.632													T	42462769	C	T	42462769	3	4	211	1	0	0	0	0	1	0	0	0	10141	768	27	1	713	1	NAGA	22	42462769	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08		42462769	8841797	234	112421											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659547	50659547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcattggatacgtgtcCgtgggtgttccaccgtggct	15	10	0	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chr22:50659547C>T	uc003bkb.1	-	16	3753	c.3241G>A	c.(3241-3243)GGA>AGA	p.G1081R	TUBGCP6_uc003bka.1_Missense_Mutation_p.G168R|TUBGCP6_uc010har.1_Missense_Mutation_p.G1073R|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1081	9 X 27 AA tandem repeats.|3.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		GATACGTGTCCGTGGGTGTTC	0.612													T	50659547	C	T	50659547	3	4	211	1	0	0	0	0	1	0	0	0	16767	661	23	1	2258	1	TUBGCP6	22	50659547	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	8196778	50659547	645019	235	112422											
ACE2	59272	broad.mit.edu	37	chrX	15593858	15593858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagaccatccacctccacTtctctaacatgtaagtaaat	3	12	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:15593858T>G	uc004cxa.1	-	10	1541	c.1373A>C	c.(1372-1374)AAG>ACG	p.K458T	ACE2_uc004cxb.2_Missense_Mutation_p.K458T	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	458	Extracellular (Potential).				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			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCACCTCCACTTCTCTAACAT	0.378													G	15593858	T	G	15593858	3	3	211	1	0	0	0	0	1	0	0	0	137	1609	56	5	1080	5	ACE2	23	15593858	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08		15593858	139676702	236	112423											
NR0B1	190	broad.mit.edu	37	chrX	30326665	30326665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcacctggaagcagggCaagtacttgacgaagcgcag	15	10	0	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:30326665C>T	uc004dcf.3	-	1	831	c.816G>A	c.(814-816)TTG>TTA	p.L272L		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	272	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			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGAAGCAGGGCAAGTACTTGA	0.662											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30326665	C	T	30326665	2	4	211	1	0	0	0	0	0	0	0	1	10613	709	25	2		2	NR0B1	23	30326665	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	14732807	30326665	124943895	237	112424											
USP9X	8239	broad.mit.edu	37	chrX	41075642	41075642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgtatgtcatacaggcGccagaaaaggtggtggaatg	15	6	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:41075642G>A	uc004dfb.2	+	35	6455	c.5822G>A	c.(5821-5823)CGC>CAC	p.R1941H	USP9X_uc004dfc.2_Missense_Mutation_p.R1941H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1941					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			lung(3)|breast(2)|ovary(1)	6						TCATACAGGCGCCAGAAAAGG	0.378													A	41075642	G	A	41075642	3	1	211	1	0	0	0	0	1	0	0	0	17087	1087	38	1	5956	1	USP9X	23	41075642	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	10748977	41075642	114194918	238	112425											
AR	367	broad.mit.edu	37	chrX	66765865	66765865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggccgaatgcaaaggtTctctgctagacgacagcgca	11	11	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:66765865T>C	uc004dwu.1	+	1	1992	c.877T>C	c.(877-879)TCT>CCT	p.S293P	AR_uc011mpd.1_Missense_Mutation_p.S293P|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.S293P	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	291	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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	ATGCAAAGGTTCTCTGCTAGA	0.567									Androgen_Insensitivity_Syndrome				C	66765865	T	C	66765865	3	2	211	1	0	0	0	0	1	0	0	0	836	1783	62	3	879	3	AR	23	66765865	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	25690223	66765865	88504695	239	112426											
NLGN3	54413	broad.mit.edu	37	chrX	70375090	70375090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacagtggtgctaaacccGtcatggtctacatccacgga	12	11	2	0			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:70375090G>A	uc004dzd.1	+	4	804	c.604G>A	c.(604-606)GTC>ATC	p.V202I	NLGN3_uc010nlb.1_Missense_Mutation_p.V162I|NLGN3_uc004dzb.2_Missense_Mutation_p.V182I|NLGN3_uc004dzc.2_Missense_Mutation_p.V65I|NLGN3_uc011mps.1_Missense_Mutation_p.V162I|NLGN3_uc004dze.2_5'UTR|NLGN3_uc011mpr.1_Missense_Mutation_p.V162I	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	202	Extracellular (Potential).				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			ovary(1)	1	Renal(35;0.156)					TGCTAAACCCGTCATGGTCTA	0.587													A	70375090	G	A	70375090	3	1	211	1	0	0	0	0	1	0	0	0	10463	1145	40	1	618	1	NLGN3	23	70375090	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	3609225	70375090	84895470	240	112427											
KIAA2022	340533	broad.mit.edu	37	chrX	73961616	73961616	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtaggtgtgaggttatTttccatggagactacttggg	14	4	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:73961616T>G	uc004eby.2	-	3	3393	c.2776A>C	c.(2776-2778)AAT>CAT	p.N926H		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	926					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GTGAGGTTATTTTCCATGGAG	0.478													G	73961616	T	G	73961616	3	3	211	1	0	0	0	0	1	0	0	0	8269	1841	64	5	1782	5	KIAA2022	23	73961616	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	3586526	73961616	81308944	241	112428											
KLHL4	56062	broad.mit.edu	37	chrX	86919826	86919826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgttcctcgagatgctgTtgctgtgtgccctcttggag	14	9	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:86919826T>G	uc004efb.2	+	10	2170	c.1988T>G	c.(1987-1989)GTT>GGT	p.V663G	KLHL4_uc004efa.2_Missense_Mutation_p.V663G	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	663	Kelch 5.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CGAGATGCTGTTGCTGTGTGC	0.428													G	86919826	T	G	86919826	3	3	211	1	0	0	0	0	1	0	0	0	8391	1725	60	5	2026	5	KLHL4	23	86919826	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	12958210	86919826	68350734	242	112429											
DIAPH2	1730	broad.mit.edu	37	chrX	95993746	95993746	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaaaggaagtattggatctCtttgaaaaaatgatggtaag	11	2	1	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:95993746C>A	uc004efu.3	+	3	723	c.327C>A	c.(325-327)CTC>CTA	p.L109L	DIAPH2_uc004eft.3_Silent_p.L109L|DIAPH2_uc004efs.2_Silent_p.L109L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	109	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TATTGGATCTCTTTGAAAAAA	0.363													A	95993746	C	A	95993746	2	1	211	1	0	0	0	0	0	0	0	1	4519	900	32	5		5	DIAPH2	23	95993746	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	9073920	95993746	59276814	243	112430											
ARL13A	392509	broad.mit.edu	37	chrX	100242442	100242442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccatagttgaaggactgCgctggctattagctgtcatt	11	9	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:100242442C>T	uc004ego.2	+	6	666	c.550C>T	c.(550-552)CGC>TGC	p.R184C	ARL13A_uc011mrf.1_Missense_Mutation_p.R184C|ARL13A_uc010nng.2_Missense_Mutation_p.R184C	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13 isoform a	184							GTP binding			ovary(1)	1						TGAAGGACTGCGCTGGCTATT	0.473													T	100242442	C	T	100242442	3	4	211	1	0	0	0	0	1	0	0	0	928	768	27	1	568	1	ARL13A	23	100242442	Missense_Mutation	SNP	C	TCGA-D7-6527-01A-11D-1800-08	4248696	100242442	55028118	244	112431											
NXT2	55916	broad.mit.edu	37	chrX	108785790	108785790	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaccagtggaactgtgaAgtttgatggaaacaaacaac	11	6	0	3			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:108785790A>C	uc004eof.1	+	4	446	c.302A>C	c.(301-303)AAG>ACG	p.K101T	NXT2_uc004eoe.1_Missense_Mutation_p.K156T|NXT2_uc004eog.1_Missense_Mutation_p.K73T	NM_018698	NP_061168	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	101	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				ovary(1)	1						GGAACTGTGAAGTTTGATGGA	0.403													C	108785790	A	C	108785790	3	2	211	1	0	0	0	0	1	0	0	0	10795	72	3	5	485	5	NXT2	23	108785790	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	8543348	108785790	46484770	245	112432											
GRIA3	2892	broad.mit.edu	37	chrX	122319754	122319754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgcagttatacaacacCaaccagaacaccaccgagaa	7	14	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:122319754C>T	uc004etq.3	+	3	473	c.180C>T	c.(178-180)ACC>ACT	p.T60T	GRIA3_uc004etr.3_Silent_p.T60T|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.T44T|GRIA3_uc010nqs.1_Silent_p.T60T	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	60	Extracellular (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TATACAACACCAACCAGAACA	0.453													T	122319754	C	T	122319754	2	4	211	1	0	0	0	0	0	0	0	1	6769	581	21	4		4	GRIA3	23	122319754	Silent	SNP	C	TCGA-D7-6527-01A-11D-1800-08	13533964	122319754	32950806	246	112433											
F9	2158	broad.mit.edu	37	chrX	138630607	138630607	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttgctcctgtactgaGggatatcgacttgcagaaaa	12	7	0	2			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:138630607G>C	uc004fas.1	+	5	506	c.477G>C	c.(475-477)GAG>GAC	p.E159D	F9_uc004fat.1_Missense_Mutation_p.E121D	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	159	EGF-like 2.				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			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CCTGTACTGAGGGATATCGAC	0.358													C	138630607	G	C	138630607	3	2	211	1	0	0	0	0	1	0	0	0	5351	991	35	5	495	5	F9	23	138630607	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	16310853	138630607	16639953	247	112434											
SPANXC	64663	broad.mit.edu	37	chrX	140335763	140335763	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctctggagatgttcTtttcacgttcctcctgtagc	8	12	3	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:140335763T>G	uc004fbk.2	-	2	237	c.181A>C	c.(181-183)AGA>CGA	p.R61R	SPANXC_uc004fbl.2_RNA	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	61						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					GGAGATGTTCTTTTCACGTTC	0.483													G	140335763	T	G	140335763	2	3	211	1	0	0	0	0	0	0	0	1	14987	1617	56	5		5	SPANXC	23	140335763	Silent	SNP	T	TCGA-D7-6527-01A-11D-1800-08	1705156	140335763	14934797	248	112435											
SLITRK2	84631	broad.mit.edu	37	chrX	144904233	144904233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacctaggtaacaacgGgttacaggagatccgaacgg	11	10	2	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:144904233G>A	uc004fcd.2	+	5	1280	c.290G>A	c.(289-291)GGG>GAG	p.G97E	SLITRK2_uc010nsp.2_Missense_Mutation_p.G97E|SLITRK2_uc010nso.2_Missense_Mutation_p.G97E|SLITRK2_uc011mwq.1_Missense_Mutation_p.G97E|SLITRK2_uc011mwr.1_Missense_Mutation_p.G97E|SLITRK2_uc011mws.1_Missense_Mutation_p.G97E|SLITRK2_uc004fcg.2_Missense_Mutation_p.G97E|SLITRK2_uc011mwt.1_Missense_Mutation_p.G97E	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	97	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAACAACGGGTTACAGGAG	0.448													A	144904233	G	A	144904233	3	1	211	1	0	0	0	0	1	0	0	0	14743	1232	43	4	292	4	SLITRK2	23	144904233	Missense_Mutation	SNP	G	TCGA-D7-6527-01A-11D-1800-08	4568470	144904233	10366327	249	112436											
FMR1NB	158521	broad.mit.edu	37	chrX	147088344	147088344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacgagcttcaaatgtTttgctccatttagagatggt	10	8	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:147088344T>G	uc004fcm.2	+	3	594	c.520T>G	c.(520-522)TTT>GTT	p.F174V		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	174	P-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAAATGTTTTGCTCCATT	0.348													G	147088344	T	G	147088344	3	3	211	1	0	0	0	0	1	0	0	0	5961	1841	64	5	530	5	FMR1NB	23	147088344	Missense_Mutation	SNP	T	TCGA-D7-6527-01A-11D-1800-08	2184111	147088344	8182216	250	112437											
MAGEA4	4103	broad.mit.edu	37	chrX	151092883	151092883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaaactgctcacccaAgattgggtgcaggaaaacta	10	11	1	1			TCGA-D7-6527-01A-11D-1800-08	TCGA-D7-6527-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc537fcf-d910-4c4b-8af9-e7da429f2633	3729b122-72fa-41f5-95ba-fcef586c479d	g.chrX:151092883A>C	uc004fez.2	+	3	903	c.747A>C	c.(745-747)CAA>CAC	p.Q249H	MAGEA4_uc004ffa.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q249H|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q249H	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	249	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCACCCAAGATTGGGTGC	0.587													C	151092883	A	C	151092883	3	2	211	1	0	0	0	0	1	0	0	0	9168	69	3	5	749	5	MAGEA4	23	151092883	Missense_Mutation	SNP	A	TCGA-D7-6527-01A-11D-1800-08	4004539	151092883	4177677	251	112438											
PRDM16	63976	broad.mit.edu	37	chr1	3328335	3328335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatccttgtacccccGgccgcctctgctacctccca	5	23	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:3328335G>A	uc001akf.2	+	9	1654	c.1574G>A	c.(1573-1575)CGG>CAG	p.R525Q	PRDM16_uc001akc.2_Missense_Mutation_p.R525Q|PRDM16_uc001akd.2_Missense_Mutation_p.R525Q|PRDM16_uc001ake.2_Missense_Mutation_p.R525Q|PRDM16_uc009vlh.2_Missense_Mutation_p.R226Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	525	Pro-rich.				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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		TTGTACCCCCGGCCGCCTCTG	0.706			T	EVI1	MDS|AML								A	3328335	G	A	3328335	3	1	212	1	0	0	0	0	1	0	0	0	12457	1116	39	1	1608	1	PRDM16	1	3328335	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08		3328335	245922286	1	112439											
PER3	8863	broad.mit.edu	37	chr1	7887365	7887365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacacctcgagcccgacCttcccacctgccgccatggt	8	21	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:7887365C>T	uc001aoo.2	+	17	2527	c.2352C>T	c.(2350-2352)ACC>ACT	p.T784T	PER3_uc009vmg.1_Silent_p.T792T|PER3_uc009vmh.1_Silent_p.T785T|PER3_uc001aop.2_Silent_p.T792T|PER3_uc010nzw.1_Silent_p.T473T	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	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)		CGAGCCCGACCTTCCCACCTG	0.701													T	7887365	C	T	7887365	2	4	212	1	0	0	0	0	0	0	0	1	11731	668	24	4		4	PER3	1	7887365	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4559030	7887365	241363256	2	112440											
PTCHD2	57540	broad.mit.edu	37	chr1	11561886	11561886	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcgcatcgagctcatcttCctggcgcgcggcgacgcgga	15	14	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:11561886C>T	uc001ash.3	+	2	975	c.837C>T	c.(835-837)TTC>TTT	p.F279F	PTCHD2_uc001asi.1_Silent_p.F279F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	279	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		AGCTCATCTTCCTGGCGCGCG	0.657													T	11561886	C	T	11561886	2	4	212	1	0	0	0	0	0	0	0	1	12733	854	30	4		4	PTCHD2	1	11561886	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	3674521	11561886	237688735	3	112441											
RNF220	55182	broad.mit.edu	37	chr1	44878323	44878323	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgacactgggaagaAgatttttgctgtctctggcc	13	7	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:44878323A>C	uc001clv.1	+	2	914	c.554A>C	c.(553-555)AAG>ACG	p.K185T	RNF220_uc001clw.1_Missense_Mutation_p.K185T	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	185					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACTGGGAAGAAGATTTTTGCT	0.498													C	44878323	A	C	44878323	3	2	212	1	0	0	0	0	1	0	0	0	13483	72	3	5	556	5	RNF220	1	44878323	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	33316437	44878323	204372298	4	112442											
CYP4B1	1580	broad.mit.edu	37	chr1	47276838	47276838	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcccctgatgtgtatgacTtcttcctccagtggattggt	11	10	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:47276838T>G	uc001cqm.3	+	3	433	c.349T>G	c.(349-351)TTC>GTC	p.F117V	CYP4B1_uc009vyl.1_Intron|CYP4B1_uc001cqn.3_Missense_Mutation_p.F117V|CYP4B1_uc009vym.2_Intron|CYP4B1_uc010omk.1_Intron|CYP4B1_uc010oml.1_5'UTR	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	117					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					TGTGTATGACTTCTTCCTCCA	0.582													G	47276838	T	G	47276838	3	3	212	1	0	0	0	0	1	0	0	0	4185	1609	56	5	359	5	CYP4B1	1	47276838	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2398515	47276838	201973783	5	112443											
DAB1	1600	broad.mit.edu	37	chr1	57537289	57537289	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatgagttgaaagagatctCtcaagtccagaataacaggt	9	6	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:57537289C>T	uc001cys.1	-	8	1138	c.464G>A	c.(463-465)AGA>AAA	p.R155K	DAB1_uc001cyt.1_Missense_Mutation_p.R155K|DAB1_uc001cyq.1_Missense_Mutation_p.R155K|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.R155K|DAB1_uc009vzx.1_Missense_Mutation_p.R155K	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	155	PID.				cell differentiation|nervous system development					skin(2)|ovary(1)	3						AAAGAGATCTCTCAAGTCCAG	0.398													T	57537289	C	T	57537289	3	4	212	1	0	0	0	0	1	0	0	0	4217	913	32	4	1239	4	DAB1	1	57537289	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	10260451	57537289	191713332	6	112444											
NFIA	4774	broad.mit.edu	37	chr1	61872278	61872278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacaacccattccttccCaccccaatgttgccaccgcc	5	20	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:61872278C>T	uc001czw.2	+	9	1783	c.1299C>T	c.(1297-1299)CCC>CCT	p.P433P	NFIA_uc001czy.2_Silent_p.P425P|NFIA_uc010oos.1_Silent_p.P478P|NFIA_uc001czv.2_Silent_p.P433P|NFIA_uc001czx.2_Silent_p.P81P|NFIA_uc009wae.2_RNA	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	433					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						CATTCCTTCCCACCCCAATGT	0.602													T	61872278	C	T	61872278	2	4	212	1	0	0	0	0	0	0	0	1	10370	581	21	4		4	NFIA	1	61872278	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4334989	61872278	187378343	7	112445											
INADL	10207	broad.mit.edu	37	chr1	62271131	62271131	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatatccagaaaaagtcccaGactctccagaaaatgagctg	7	10	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:62271131G>C	uc001dab.2	+	13	1675	c.1561G>C	c.(1561-1563)GAC>CAC	p.D521H	INADL_uc009waf.1_Missense_Mutation_p.D521H|INADL_uc001daa.2_Missense_Mutation_p.D521H|INADL_uc001dad.3_Missense_Mutation_p.D218H|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	521					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						AAAAGTCCCAGACTCTCCAGA	0.353													C	62271131	G	C	62271131	3	2	212	1	0	0	0	0	1	0	0	0	7731	942	33	5	1607	5	INADL	1	62271131	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	398853	62271131	186979490	8	112446											
DIRAS3	9077	broad.mit.edu	37	chr1	68512611	68512611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccttcagctcttccaGggtttccttcttggtgactg	11	11	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:68512611G>A	uc001ded.2	-	2	665	c.370C>T	c.(370-372)CTG>TTG	p.L124L	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	124					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			skin(1)	1						AGCTCTTCCAGGGTTTCCTTC	0.552													A	68512611	G	A	68512611	2	1	212	1	0	0	0	0	0	0	0	1	4532	991	35	4		4	DIRAS3	1	68512611	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	6241480	68512611	180738010	9	112447											
TTLL7	79739	broad.mit.edu	37	chr1	84369788	84369788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttacagagtccaattTtatgagccaatatgaagcca	7	7	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:84369788T>G	uc001djc.2	-	18	2578	c.2182A>C	c.(2182-2184)AAA>CAA	p.K728Q	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	728					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GAGTCCAATTTTATGAGCCAA	0.333													G	84369788	T	G	84369788	3	3	212	1	0	0	0	0	1	0	0	0	16729	1850	64	5	497	5	TTLL7	1	84369788	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	15857177	84369788	164880833	10	112448											
SLC44A3	126969	broad.mit.edu	37	chr1	95303425	95303425	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgtgtatcctcgcatTaggtaattctcagttaagtt	9	8	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:95303425T>G	uc001dqv.3	+	6	775	c.668T>G	c.(667-669)TTA>TGA	p.L223*	SLC44A3_uc001dqx.3_Nonsense_Mutation_p.L223*|SLC44A3_uc010otq.1_Nonsense_Mutation_p.L155*|SLC44A3_uc010otr.1_Nonsense_Mutation_p.L187*|SLC44A3_uc001dqw.3_Nonsense_Mutation_p.L175*|SLC44A3_uc010ots.1_Nonsense_Mutation_p.L143*|SLC44A3_uc009wds.2_Nonsense_Mutation_p.L126*|SLC44A3_uc010ott.1_Nonsense_Mutation_p.L143*|SLC44A3_uc010otu.1_RNA	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	223	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATCCTCGCATTAGGTAATTCT	0.348													G	95303425	T	G	95303425	4	3	212	1	0	0	0	0	0	1	0	0	14637	1764	61	5	690	5	SLC44A3	1	95303425	Nonsense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	10933637	95303425	153947196	11	112449											
FNDC7	163479	broad.mit.edu	37	chr1	109270515	109270515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgtccgtggtgccgaActgtatgaaaccaaggctgt	11	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:109270515A>G	uc001dvx.2	+	7	1197	c.1197A>G	c.(1195-1197)GAA>GAG	p.E399E	FNDC7_uc010ova.1_Silent_p.E166E	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	400	Fibronectin type-III 5.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGGTGCCGAACTGTATGAAA	0.512													G	109270515	A	G	109270515	2	3	212	1	0	0	0	0	0	0	0	1	5973	40	2	3		3	FNDC7	1	109270515	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	13967090	109270515	139980106	12	112450											
PRUNE	58497	broad.mit.edu	37	chr1	151006649	151006649	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actctctgctgaggccgtctTcgagaagtgcagtcagatct	11	11	4	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:151006649T>A	uc001ewh.1	+	8	1437	c.1301T>A	c.(1300-1302)TTC>TAC	p.F434Y	PRUNE_uc001ewi.1_Missense_Mutation_p.F252Y|PRUNE_uc010pco.1_Missense_Mutation_p.F202Y|PRUNE_uc001ewj.1_Missense_Mutation_p.F149Y|PRUNE_uc001ewk.1_Missense_Mutation_p.F199Y|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	434						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	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)			GAGGCCGTCTTCGAGAAGTGC	0.582													A	151006649	T	A	151006649	3	1	212	1	0	0	0	0	1	0	0	0	12640	1783	62	5	1331	5	PRUNE	1	151006649	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	41736134	151006649	98243972	13	112451											
POGZ	23126	broad.mit.edu	37	chr1	151380596	151380596	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcatgtggttggcataAgctcgagaacagcaggtgct	13	7	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:151380596A>C	uc001eyd.1	-	15	2661	c.2355T>G	c.(2353-2355)GCT>GCG	p.A785A	POGZ_uc001eye.1_Silent_p.A732A|POGZ_uc010pdb.1_Silent_p.A776A|POGZ_uc001eyf.1_Silent_p.A741A|POGZ_uc010pdc.1_Silent_p.A723A|POGZ_uc009wmv.1_Silent_p.A690A|POGZ_uc010pdd.1_Silent_p.A276A	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	785	C2H2-type 8.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	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)			GGTTGGCATAAGCTCGAGAAC	0.393													C	151380596	A	C	151380596	2	2	212	1	0	0	0	0	0	0	0	1	12186	59	3	5		5	POGZ	1	151380596	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	373947	151380596	97870025	14	112452											
TCHHL1	126637	broad.mit.edu	37	chr1	152059360	152059360	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtctttgtgttgcttcTtttggtggtgaactttgggt	13	5	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:152059360T>C	uc001ezo.1	-	3	863	c.798A>G	c.(796-798)AAA>AAG	p.K266K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	266							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCTTCTTTTGGTGGTG	0.428													C	152059360	T	C	152059360	2	2	212	1	0	0	0	0	0	0	0	1	15698	1606	56	3		3	TCHHL1	1	152059360	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	678764	152059360	97191261	15	112453											
FLG	2312	broad.mit.edu	37	chr1	152280800	152280800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgtttttctgcttgcacTtctggatcctgactgcccac	7	12	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:152280800T>G	uc001ezu.1	-	3	6598	c.6562A>C	c.(6562-6564)AGT>CGT	p.S2188R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.532									Ichthyosis				G	152280800	T	G	152280800	3	3	212	1	0	0	0	0	1	0	0	0	5922	1609	56	5	5627	5	FLG	1	152280800	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	221440	152280800	96969821	16	112454											
FLG2	388698	broad.mit.edu	37	chr1	152329336	152329336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgaatatagctaaatTgatttccttgccctccaaat	5	10	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:152329336T>C	uc001ezw.3	-	3	999	c.926A>G	c.(925-927)CAA>CGA	p.Q309R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	309	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAGCTAAATTGATTTCCTTG	0.473													C	152329336	T	C	152329336	3	2	212	1	0	0	0	0	1	0	0	0	5923	1812	63	3	6253	3	FLG2	1	152329336	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	48536	152329336	96921285	17	112455											
LMX1A	4009	broad.mit.edu	37	chr1	165218827	165218827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcccgcataacaaacTcattgggagcgatggcctcg	12	12	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:165218827T>G	uc001gcy.1	-	3	535	c.314A>C	c.(313-315)GAG>GCG	p.E105A	LMX1A_uc001gcz.1_Missense_Mutation_p.E105A	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	105	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CATAACAAACTCATTGGGAGC	0.522													G	165218827	T	G	165218827	3	3	212	1	0	0	0	0	1	0	0	0	8861	1551	54	5	858	5	LMX1A	1	165218827	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	12889491	165218827	84031794	18	112456											
TADA1	117143	broad.mit.edu	37	chr1	166831580	166831580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaacaaagtttcaagtcgtCatcatcttggggatcctttg	10	8	4	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:166831580C>T	uc001gdw.2	-	5	584	c.400G>A	c.(400-402)GAC>AAC	p.D134N	TADA1_uc001gdv.2_5'UTR	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	134					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1						TTCAAGTCGTCATCATCTTGG	0.438													T	166831580	C	T	166831580	3	4	212	1	0	0	0	0	1	0	0	0	15506	826	29	4	623	4	TADA1	1	166831580	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	1612753	166831580	82419041	19	112457											
SLC9A11	284525	broad.mit.edu	37	chr1	173517591	173517591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatttgtcaaaattttTtctgttttaaataaagttat	3	3	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:173517591T>G	uc001giz.2	-	12	1821	c.1398A>C	c.(1396-1398)GAA>GAC	p.E466D	SLC9A11_uc009wwe.2_Missense_Mutation_p.E24D|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	466					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TCAAAATTTTTTCTGTTTTAA	0.353													G	173517591	T	G	173517591	3	3	212	1	0	0	0	0	1	0	0	0	14711	1838	64	5	2044	5	SLC9A11	1	173517591	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6686011	173517591	75733030	20	112458											
C1orf27	54953	broad.mit.edu	37	chr1	186375301	186375301	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttgtgtgattataaatttGacgatgagtcagctgaagaa	11	3	1	5			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:186375301G>A	uc001grw.2	+	13	1323	c.1087G>A	c.(1087-1089)GAC>AAC	p.D363N	C1orf27_uc010poq.1_Missense_Mutation_p.D340N|C1orf27_uc010por.1_Missense_Mutation_p.D331N	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	363						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1						TTATAAATTTGACGATGAGTC	0.388													A	186375301	G	A	186375301	3	1	212	1	0	0	0	0	1	0	0	0	2036	1290	45	4	1129	4	C1orf27	1	186375301	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	12857710	186375301	62875320	21	112459											
FAM58B	339521	broad.mit.edu	37	chr1	200182938	200182938	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatgtcttccatttacTtggccggcaaagtggaagag	11	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:200182938T>G	uc009wzi.1	+	1	283	c.247T>G	c.(247-249)TTG>GTG	p.L83V		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	83					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					TTCCATTTACTTGGCCGGCAA	0.527													G	200182938	T	G	200182938	3	3	212	1	0	0	0	0	1	0	0	0	5591	1606	56	5	249	5	FAM58B	1	200182938	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	13807637	200182938	49067683	22	112460											
CHIT1	1118	broad.mit.edu	37	chr1	203188382	203188382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatcaaagcccacccActggttgtcccggaagatgt	8	14	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:203188382A>C	uc001gzn.2	-	9	1087	c.991T>G	c.(991-993)TGG>GGG	p.W331G	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Missense_Mutation_p.W122G|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.W322G	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	331					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						AAGCCCACCCACTGGTTGTCC	0.567													C	203188382	A	C	203188382	3	2	212	1	0	0	0	0	1	0	0	0	3346	159	6	5	421	5	CHIT1	1	203188382	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	3005444	203188382	46062239	23	112461											
CAMK1G	57172	broad.mit.edu	37	chr1	209785554	209785555	+	Frame_Shift_Ins	INS	-	-	A													actcctcaaaaaggccaacaINSaaaaacagtacgtattttta							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:209785553_209785554C>CA	uc001hhd.3	+	10	1434_1435	c.1332_1333C>CA	c.(1330-1335)aacaaafs	p.N444fs	CAMK1G_uc001hhf.4_Frame_Shift_Ins_p.N444fs|CAMK1G_uc001hhe.3_Frame_Shift_Ins_p.N444fs	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	444						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A443T(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAAAGGCCAACAAAAAACAGTA	0.525													A	209785555	-	A	209785554	7	5	212	1	0	1	1	0	0	0	0	0	2598	131	5	0	1371	0	CAMK1G	1	209785554	Frame_Shift_Ins	INS	-	TCGA-D7-6528-01A-11D-1800-08	6597172	209785554	39465067	24	112462											
USH2A	7399	broad.mit.edu	37	chr1	216420388	216420388	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctaacccataaaagTtttctctgcaggtgtcacac	6	11	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:216420388T>A	uc001hku.1	-	13	2735	c.2348A>T	c.(2347-2349)AAC>ATC	p.N783I	USH2A_uc001hkv.2_Missense_Mutation_p.N783I	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	783	Laminin EGF-like 5.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCATAAAAGTTTTCTCTGCA	0.483										HNSCC(13;0.011)			A	216420388	T	A	216420388	3	1	212	1	0	0	0	0	1	0	0	0	17033	1725	60	5	13514	5	USH2A	1	216420388	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6634834	216420388	32830233	25	112463											
RYR2	6262	broad.mit.edu	37	chr1	237813289	237813289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcacagagcaccacgCttctctcattgactcattac	7	14	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:237813289C>T	uc001hyl.1	+	50	7745	c.7625C>T	c.(7624-7626)GCT>GTT	p.A2542V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2542	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GAGCACCACGCTTCTCTCATT	0.468													T	237813289	C	T	237813289	3	4	212	1	0	0	0	0	1	0	0	0	13769	797	28	2	7823	2	RYR2	1	237813289	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	21392901	237813289	11437332	26	112464											
AKT3	10000	broad.mit.edu	37	chr1	243858949	243858949	+	Missense_Mutation	SNP	T	T	A													ccacatcttgaggtttctctTtatatcctatgaatgagcca							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:243858949T>A	uc001iab.1	-	2	197	c.116A>T	c.(115-117)AAA>ATA	p.K39I	AKT3_uc001hzz.1_Missense_Mutation_p.K39I	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	39	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)			AGGTTTCTCTTTATATCCTAT	0.338													A	243858949	T	A	243858949	3	1	212	1	0	0	0	0	1	0	0	0	481	1841	64	5	1419	5	AKT3	1	243858949	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6045660	243858949	5391672	27	112465	530	2									
AKT3	10000	broad.mit.edu	37	chr1	243858952	243858952	+	Missense_Mutation	SNP	T	T	A													catcttgaggtttctctttaTatcctatgaatgagccatct							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:243858952T>A	uc001iab.1	-	2	194	c.113A>T	c.(112-114)TAT>TTT	p.Y38F	AKT3_uc001hzz.1_Missense_Mutation_p.Y38F	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	38	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)			TTTCTCTTTATATCCTATGAA	0.338													A	243858952	T	A	243858952	3	1	212	1	0	0	0	0	1	0	0	0	481	1406	49	5	1422	5	AKT3	1	243858952	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	3	243858952	5391669	28	112466	530	2									
OR2G6	391211	broad.mit.edu	37	chr1	248685027	248685027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagctagagaggtttcTttttgccatcattttgtact	8	9	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr1:248685027T>G	uc001ien.1	+	1	80	c.80T>G	c.(79-81)CTT>CGT	p.L27R		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	27	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			GAGAGGTTTCTTTTTGCCATC	0.458													G	248685027	T	G	248685027	3	3	212	1	0	0	0	0	1	0	0	0	11000	1609	56	5	82	5	OR2G6	1	248685027	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4826075	248685027	565594	29	112467											
DNAJC5G	285126	broad.mit.edu	37	chr2	27503062	27503062	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattttagaagcgaggaAaatagcgaagatgattttta	11	2	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:27503062A>C	uc002rjl.1	+	6	967	c.549A>C	c.(547-549)GAA>GAC	p.E183D	TRIM54_uc002rjn.2_5'Flank|TRIM54_uc002rjo.2_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.K96T|DNAJC5G_uc002rjm.1_Missense_Mutation_p.E183D	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	183					protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCGAGGAAAATAGCGAAG	0.338											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	27503062	A	C	27503062	3	2	212	1	0	0	0	0	1	0	0	0	4652	11	1	5	563	5	DNAJC5G	2	27503062	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08		27503062	215696311	30	112468											
SUPT7L	9913	broad.mit.edu	37	chr2	27880285	27880285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagcacactgccaataCccacttcatggaatacctgc	9	13	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:27880285C>T	uc002rlh.1	-	4	1014	c.671G>A	c.(670-672)GGT>GAT	p.G224D	SUPT7L_uc002rli.1_Missense_Mutation_p.G224D|SUPT7L_uc010ymf.1_Missense_Mutation_p.G89D|SUPT7L_uc002rlj.1_Missense_Mutation_p.G222D|SUPT7L_uc010ezh.1_Missense_Mutation_p.G222D	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	224					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					ACTGCCAATACCCACTTCATG	0.532													T	27880285	C	T	27880285	3	4	212	1	0	0	0	0	1	0	0	0	15398	507	18	4	585	4	SUPT7L	2	27880285	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	377223	27880285	215319088	31	112469											
CLIP4	79745	broad.mit.edu	37	chr2	29383324	29383324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttctttgggacaacaaacTtcgctccaggtaactcatct	8	11	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:29383324T>G	uc002rmv.2	+	12	1764	c.1525T>G	c.(1525-1527)TTC>GTC	p.F509V	CLIP4_uc002rmu.2_Missense_Mutation_p.F509V|CLIP4_uc010ezm.1_Missense_Mutation_p.F509V|CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	509	CAP-Gly 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GACAACAAACTTCGCTCCAGG	0.393													G	29383324	T	G	29383324	3	3	212	1	0	0	0	0	1	0	0	0	3535	1609	56	5	1567	5	CLIP4	2	29383324	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1503039	29383324	213816049	32	112470											
ALK	238	broad.mit.edu	37	chr2	29450510	29450510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcttccccatccatttcGgggtcattgtttgaggctgc	9	13	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:29450510G>A	uc002rmy.2	-	17	3751	c.2844C>T	c.(2842-2844)CCC>CCT	p.P948P		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	948	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATCCATTTCGGGGTCATTGT	0.512			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	29450510	G	A	29450510	2	1	212	1	0	0	0	0	0	0	0	1	525	1103	39	1		1	ALK	2	29450510	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	67186	29450510	213748863	33	112471											
ALK	238	broad.mit.edu	37	chr2	29754908	29754908	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacggccagtgtgcagtgctCactgctgctcctcatccacg	11	15	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:29754908C>G	uc002rmy.2	-	4	1934	c.1027G>C	c.(1027-1029)GAG>CAG	p.E343Q		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	343	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTGCAGTGCTCACTGCTGCTC	0.577			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				G	29754908	C	G	29754908	3	3	212	1	0	0	0	0	1	0	0	0	525	835	29	5	3939	5	ALK	2	29754908	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	304398	29754908	213444465	34	112472											
STRN	6801	broad.mit.edu	37	chr2	37096829	37096829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgacttctcaatgtaaacTtagggttccatgtcttcctc	7	10	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:37096829T>G	uc002rpn.2	-	11	1376	c.1367A>C	c.(1366-1368)AAG>ACG	p.K456T	STRN_uc010ezx.2_Missense_Mutation_p.K419T	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	456					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CAATGTAAACTTAGGGTTCCA	0.368													G	37096829	T	G	37096829	3	3	212	1	0	0	0	0	1	0	0	0	15328	1609	56	5	1007	5	STRN	2	37096829	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	7341921	37096829	206102544	35	112473											
HEATR5B	54497	broad.mit.edu	37	chr2	37289138	37289138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtgcgctgtaaagatAgcctgctattttgggcagca	13	8	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:37289138A>G	uc002rpp.1	-	11	1736	c.1640T>C	c.(1639-1641)CTA>CCA	p.L547P		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	547							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				CTGTAAAGATAGCCTGCTATT	0.363													G	37289138	A	G	37289138	3	3	212	1	0	0	0	0	1	0	0	0	7032	420	15	3	4679	3	HEATR5B	2	37289138	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	192309	37289138	205910235	36	112474											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48896962	48896962	+	Missense_Mutation	SNP	A	A	C													gatacatcttccaatgaagaAataggaagtacaagagatgc							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:48896962A>C	uc010yol.1	+	6	3098	c.3051A>C	c.(3049-3051)GAA>GAC	p.E1017D	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.E1064D|GTF2A1L_uc002rws.1_Missense_Mutation_p.E360D|GTF2A1L_uc010yom.1_Missense_Mutation_p.E326D|GTF2A1L_uc002rwt.2_Missense_Mutation_p.E360D	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	1017					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAATGAAGAAATAGGAAGTA	0.378													C	48896962	A	C	48896962	3	2	212	1	0	0	0	0	1	0	0	0	15316	11	1	5	3222	5	STON1-GTF2A1L	2	48896962	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	11607824	48896962	194302411	37	112475	531	2									
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48896972	48896972	+	Missense_Mutation	SNP	A	A	G													ccaatgaagaaataggaagtAcaagagatgcagatgagaat							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:48896972A>G	uc010yol.1	+	6	3108	c.3061A>G	c.(3061-3063)ACA>GCA	p.T1021A	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.T1068A|GTF2A1L_uc002rws.1_Missense_Mutation_p.T364A|GTF2A1L_uc010yom.1_Missense_Mutation_p.T330A|GTF2A1L_uc002rwt.2_Missense_Mutation_p.T364A	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	1021					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATAGGAAGTACAAGAGATGC	0.393													G	48896972	A	G	48896972	3	3	212	1	0	0	0	0	1	0	0	0	15316	391	14	3	3232	3	STON1-GTF2A1L	2	48896972	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	10	48896972	194302401	38	112476	531	2									
CCDC88A	55704	broad.mit.edu	37	chr2	55527028	55527028	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tattgctagtggatgttctgCcactatcaaggctggctggt	12	8	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:55527028C>G	uc002ryv.2	-	29	5611	c.4769G>C	c.(4768-4770)GGC>GCC	p.G1590A	CCDC88A_uc010yoz.1_Missense_Mutation_p.G1563A|CCDC88A_uc010ypa.1_Missense_Mutation_p.G1590A|CCDC88A_uc002ryt.2_5'Flank|CCDC88A_uc010fbw.2_Intron|CCDC88A_uc002ryu.2_Missense_Mutation_p.G845A|CCDC88A_uc002rys.2_Missense_Mutation_p.G548A|CCDC88A_uc002ryw.2_Missense_Mutation_p.G874A|CCDC88A_uc010fby.1_Missense_Mutation_p.G442A	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1591					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			ovary(2)|skin(2)	4						GGATGTTCTGCCACTATCAAG	0.378													G	55527028	C	G	55527028	3	3	212	1	0	0	0	0	1	0	0	0	2863	739	26	5	859	5	CCDC88A	2	55527028	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	6630056	55527028	187672345	39	112477											
FAM161A	84140	broad.mit.edu	37	chr2	62069423	62069423	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attagagtggtgaatatcagGaaagttcacaaagtcctcat	9	6	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:62069423G>T	uc010ypo.1	-	2	358	c.256C>A	c.(256-258)CCT>ACT	p.P86T	FAM161A_uc002sbm.3_Missense_Mutation_p.P86T|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_5'UTR	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	86					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						TGAATATCAGGAAAGTTCACA	0.408													T	62069423	G	T	62069423	3	4	212	1	0	0	0	0	1	0	0	0	5472	1174	41	5	1746	5	FAM161A	2	62069423	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	6542395	62069423	181129950	40	112478											
CLEC4F	165530	broad.mit.edu	37	chr2	71039670	71039670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacttcttgacactagaaAaataatataagcttccacca	4	9	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:71039670A>G	uc002shf.2	-	5	1525	c.1448T>C	c.(1447-1449)TTT>TCT	p.F483S	CLEC4F_uc010yqv.1_Missense_Mutation_p.F483S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	483	Extracellular (Potential).|C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						GACACTAGAAAAATAATATAA	0.522													G	71039670	A	G	71039670	3	3	212	1	0	0	0	0	1	0	0	0	3516	14	1	3	333	3	CLEC4F	2	71039670	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	8970247	71039670	172159703	41	112479											
ELMOD3	84173	broad.mit.edu	37	chr2	85584355	85584355	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttgctctttccatagtaaaGaagaattaagagatggacag	9	6	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:85584355G>C	uc002spf.3	+	5	699	c.34G>C	c.(34-36)GAA>CAA	p.E12Q	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Missense_Mutation_p.E12Q|ELMOD3_uc002sph.3_Missense_Mutation_p.E12Q|ELMOD3_uc010ysn.1_Missense_Mutation_p.E12Q|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA|RETSAT_uc002spd.2_5'Flank|RETSAT_uc010ysm.1_5'Flank|RETSAT_uc010fgf.2_5'Flank	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	12					phagocytosis	cytoskeleton				ovary(2)	2						CCATAGTAAAGAAGAATTAAG	0.348													C	85584355	G	C	85584355	3	2	212	1	0	0	0	0	1	0	0	0	5070	943	33	5	36	5	ELMOD3	2	85584355	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	14544685	85584355	157615018	42	112480											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874887	88874887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatttcaatatgttcttttGtagcgaaaggatccattctg	8	6	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:88874887G>T	uc002stc.3	-	13	2316	c.2114C>A	c.(2113-2115)ACA>AAA	p.T705K		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	705	Cytoplasmic (Potential).|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						ATGTTCTTTTGTAGCGAAAGG	0.438													T	88874887	G	T	88874887	3	4	212	1	0	0	0	0	1	0	0	0	4998	1377	48	5	1256	5	EIF2AK3	2	88874887	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	3290532	88874887	154324486	43	112481											
CNGA3	1261	broad.mit.edu	37	chr2	98996761	98996761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaaggaggtgtccagccaAgaaagcaatgcccaggcaaa	11	10	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:98996761A>G	uc002syt.2	+	4	756	c.339A>G	c.(337-339)CAA>CAG	p.Q113Q	CNGA3_uc002syu.2_Silent_p.Q113Q|CNGA3_uc010fij.2_Silent_p.Q117Q	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	113					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						TGTCCAGCCAAGAAAGCAATG	0.602													G	98996761	A	G	98996761	2	3	212	1	0	0	0	0	0	0	0	1	3598	69	3	3		3	CNGA3	2	98996761	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	10121874	98996761	144202612	44	112482											
UXS1	80146	broad.mit.edu	37	chr2	106781218	106781218	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatcttgctttcaatttttaGttcaccattttcctggatag	5	8	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:106781218G>C	uc002tdm.2	-	3	243	c.145C>G	c.(145-147)CTA>GTA	p.L49V	UXS1_uc002tdn.2_Missense_Mutation_p.L54V|UXS1_uc002tdo.2_Intron|UXS1_uc010ywh.1_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	49	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						TCAATTTTTAGTTCACCATTT	0.333													C	106781218	G	C	106781218	3	2	212	1	0	0	0	0	1	0	0	0	17106	1020	36	5	1169	5	UXS1	2	106781218	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7784457	106781218	136418155	45	112483											
SLC35F5	80255	broad.mit.edu	37	chr2	114483031	114483031	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cattaatactactttattggGaaactcgaagtcctcaaatc	5	9	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:114483031G>C	uc002tku.1	-	12	1598	c.1174C>G	c.(1174-1176)CCC>GCC	p.P392A	SLC35F5_uc002tkt.2_RNA	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	392					transport	integral to membrane					0						ACTTTATTGGGAAACTCGAAG	0.353													C	114483031	G	C	114483031	3	2	212	1	0	0	0	0	1	0	0	0	14592	1174	41	5	413	5	SLC35F5	2	114483031	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7701813	114483031	128716342	46	112484											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262020	125262020	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaacaaggatggtctgcTtctgtccacagagctgtctg	12	9	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:125262020T>G	uc002tno.2	+	8	1575	c.1211T>G	c.(1210-1212)CTT>CGT	p.L404R	CNTNAP5_uc010flu.2_Missense_Mutation_p.L405R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	404	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATGGTCTGCTTCTGTCCACA	0.552													G	125262020	T	G	125262020	3	3	212	1	0	0	0	0	1	0	0	0	3650	1609	56	5	1241	5	CNTNAP5	2	125262020	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	10778989	125262020	117937353	47	112485											
NCKAP5	344148	broad.mit.edu	37	chr2	133489583	133489583	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtctgggagtggaaaggTtccgatcccactgtccaatg	13	10	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:133489583T>G	uc002ttp.2	-	17	5544	c.5170A>C	c.(5170-5172)ACC>CCC	p.T1724P	NCKAP5_uc002ttq.2_Missense_Mutation_p.T405P	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1724							protein binding				0						AGTGGAAAGGTTCCGATCCCA	0.527													G	133489583	T	G	133489583	3	3	212	1	0	0	0	0	1	0	0	0	10223	1725	60	5	575	5	NCKAP5	2	133489583	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	8227563	133489583	109709790	48	112486											
THSD7B	80731	broad.mit.edu	37	chr2	137814006	137814006	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtccgtggggaaggtgTacaggagactgtggtcccgg	19	7	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:137814006T>C	uc002tva.1	+	2	63	c.63T>C	c.(61-63)TGT>TGC	p.C21C	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGGGAAGGTGTACAGGAGACT	0.473													C	137814006	T	C	137814006	2	2	212	1	0	0	0	0	0	0	0	1	15877	1644	57	3		3	THSD7B	2	137814006	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4324423	137814006	105385367	49	112487											
THSD7B	80731	broad.mit.edu	37	chr2	137852465	137852465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccttcaagattccttcCcattgactgttcagtcctgc	6	13	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:137852465C>T	uc002tva.1	+	3	880	c.880C>T	c.(880-882)CCA>TCA	p.P294S	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.P184S	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGATTCCTTCCCATTGACTGT	0.458													T	137852465	C	T	137852465	3	4	212	1	0	0	0	0	1	0	0	0	15877	623	22	4	890	4	THSD7B	2	137852465	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	38459	137852465	105346908	50	112488											
LRP1B	53353	broad.mit.edu	37	chr2	141004675	141004675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgatatgatcagacTtgctgctctttggggctggc	13	8	2	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:141004675T>G	uc002tvj.1	-	87	14276	c.13304A>C	c.(13303-13305)AAG>ACG	p.K4435T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4435	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ATGATCAGACTTGCTGCTCTT	0.378										TSP Lung(27;0.18)			G	141004675	T	G	141004675	3	3	212	1	0	0	0	0	1	0	0	0	8955	1609	56	5	515	5	LRP1B	2	141004675	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	3152210	141004675	102194698	51	112489											
XIRP2	129446	broad.mit.edu	37	chr2	168106793	168106793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcgagagtgaaacagtTtgaagcagagccaaataaaa	10	5	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:168106793T>G	uc002udx.2	+	8	8909	c.8891T>G	c.(8890-8892)TTT>TGT	p.F2964C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F2789C|XIRP2_uc010fpq.2_Missense_Mutation_p.F2742C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.F310C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2789	Potential.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTGAAACAGTTTGAAGCAGAG	0.378													G	168106793	T	G	168106793	3	3	212	1	0	0	0	0	1	0	0	0	17427	1841	64	5	8921	5	XIRP2	2	168106793	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	27102118	168106793	75092580	52	112490											
DHRS9	10170	broad.mit.edu	37	chr2	169952128	169952128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagagtgcatggaccacGctctaacaagtctcttccct	9	12	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:169952128G>A	uc002uep.2	+	8	2315	c.811G>A	c.(811-813)GCT>ACT	p.A271T	DHRS9_uc002ueq.2_Missense_Mutation_p.A271T|DHRS9_uc010zdc.1_Missense_Mutation_p.A331T|DHRS9_uc010zdd.1_Missense_Mutation_p.A271T|DHRS9_uc010zde.1_Missense_Mutation_p.A271T	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	271					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				0						CATGGACCACGCTCTAACAAG	0.433													A	169952128	G	A	169952128	3	1	212	1	0	0	0	0	1	0	0	0	4498	1087	38	1	825	1	DHRS9	2	169952128	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	1845335	169952128	73247245	53	112491											
LRP2	4036	broad.mit.edu	37	chr2	170038698	170038698	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catattgagggtgaagggcaAgtcctctgggattatcaaag	13	6	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:170038698A>T	uc002ues.2	-	51	10190	c.9977T>A	c.(9976-9978)CTT>CAT	p.L3326H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3326	Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	GTGAAGGGCAAGTCCTCTGGG	0.522													T	170038698	A	T	170038698	3	4	212	1	0	0	0	0	1	0	0	0	8956	72	3	5	4106	5	LRP2	2	170038698	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	86570	170038698	73160675	54	112492											
TTN	7273	broad.mit.edu	37	chr2	179586841	179586841	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatacaggcttgatgtcaaAgaagggagatttcttgggtt	13	4	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:179586841A>C	uc010zfg.1	-	75	19041	c.18817T>G	c.(18817-18819)TTT>GTT	p.F6273V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F2934V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7200							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATGTCAAAGAAGGGAGAT	0.383													C	179586841	A	C	179586841	3	2	212	1	0	0	0	0	1	0	0	0	16732	72	3	5	82120	5	TTN	2	179586841	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	9548143	179586841	63612532	55	112493											
TTN	7273	broad.mit.edu	37	chr2	179595331	179595331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttccagctggctgatttCcaagaaggcagtattgtcat	9	10	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:179595331C>T	uc010zfg.1	-	58	14421	c.14197G>A	c.(14197-14199)GAA>AAA	p.E4733K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1394K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5660							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTGATTTCCAAGAAGGCA	0.448													T	179595331	C	T	179595331	3	4	212	1	0	0	0	0	1	0	0	0	16732	864	30	4	86808	4	TTN	2	179595331	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	8490	179595331	63604042	56	112494											
TTN	7273	broad.mit.edu	37	chr2	179612541	179612541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattctgaacttgaacTtcttcataacatttttcttc	3	10	5	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:179612541T>G	uc002unb.2	-	46	14810	c.14586A>C	c.(14584-14586)GAA>GAC	p.E4862D	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTTGAACTTCTTCATAAC	0.358													G	179612541	T	G	179612541	3	3	212	1	0	0	0	0	1	0	0	0	16732	1606	56	5	95711	5	TTN	2	179612541	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	17210	179612541	63586832	57	112495											
TTN	7273	broad.mit.edu	37	chr2	179614133	179614133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcacaaatctgggaatttTttctctagaaggtatgcaac	8	7	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:179614133T>G	uc002unb.2	-	46	13218	c.12994A>C	c.(12994-12996)AAA>CAA	p.K4332Q	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGAATTTTTTCTCTAGAA	0.398													G	179614133	T	G	179614133	3	3	212	1	0	0	0	0	1	0	0	0	16732	1850	64	5	97303	5	TTN	2	179614133	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1592	179614133	63585240	58	112496											
TTN	7273	broad.mit.edu	37	chr2	179644153	179644153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattctatattcaatttcttTaataagtctctcttcaaagg	3	7	6	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:179644153T>C	uc010zfg.1	-	23	3990	c.3766A>G	c.(3766-3768)AAA>GAA	p.K1256E	TTN_uc010zfh.1_Missense_Mutation_p.K1210E|TTN_uc010zfi.1_Missense_Mutation_p.K1210E|TTN_uc010zfj.1_Missense_Mutation_p.K1210E|TTN_uc002unb.2_Missense_Mutation_p.K1256E|uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1256							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATTTCTTTAATAAGTCTC	0.289													C	179644153	T	C	179644153	3	2	212	1	0	0	0	0	1	0	0	0	16732	1763	61	3	107582	3	TTN	2	179644153	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	30020	179644153	63555220	59	112497											
GLS	2744	broad.mit.edu	37	chr2	191796341	191796341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaaaaaaacttgatcctcGaagagaaggtggtgatcaaa	10	6	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:191796341G>A	uc002usf.2	+	14	1892	c.1628G>A	c.(1627-1629)CGA>CAA	p.R543Q	GLS_uc002use.2_Missense_Mutation_p.R543Q|GLS_uc002usg.1_Missense_Mutation_p.R204Q|GLS_uc002ush.2_Missense_Mutation_p.R204Q|GLS_uc010zgi.1_Missense_Mutation_p.R114Q|GLS_uc010zgj.1_Missense_Mutation_p.R48Q	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	543					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTGATCCTCGAAGAGAAGGT	0.299													A	191796341	G	A	191796341	3	1	212	1	0	0	0	0	1	0	0	0	6463	1058	37	1	1682	1	GLS	2	191796341	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	12152188	191796341	51403032	60	112498											
DNAH7	56171	broad.mit.edu	37	chr2	196762419	196762419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatcatgggataaaAattttggcagatttacatca	9	4	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:196762419A>C	uc002utj.3	-	29	4720	c.4619T>G	c.(4618-4620)TTT>TGT	p.F1540C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1540					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATGGGATAAAAATTTTGGCAG	0.284													C	196762419	A	C	196762419	3	2	212	1	0	0	0	0	1	0	0	0	4606	14	1	5	7603	5	DNAH7	2	196762419	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	4966078	196762419	46436954	61	112499											
ZDBF2	57683	broad.mit.edu	37	chr2	207170929	207170929	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccagtggctgtcacagaAacaaaacttcggaagaaggc	10	12	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:207170929A>C	uc002vbp.2	+	5	1927	c.1677A>C	c.(1675-1677)GAA>GAC	p.E559D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	559							nucleic acid binding|zinc ion binding			ovary(3)	3						CTGTCACAGAAACAAAACTTC	0.433													C	207170929	A	C	207170929	3	2	212	1	0	0	0	0	1	0	0	0	17596	11	1	5	1687	5	ZDBF2	2	207170929	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	10408510	207170929	36028444	62	112500											
MAP2	4133	broad.mit.edu	37	chr2	210558338	210558338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccacagagcacactttcTcagaacagaaagaccaagag	7	13	1	5			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:210558338T>G	uc002vde.1	+	7	1692	c.1444T>G	c.(1444-1446)TCA>GCA	p.S482A	MAP2_uc002vdc.1_Missense_Mutation_p.S482A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S478A	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	482					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	GCACACTTTCTCAGAACAGAA	0.443													G	210558338	T	G	210558338	3	3	212	1	0	0	0	0	1	0	0	0	9235	1551	54	5	1458	5	MAP2	2	210558338	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	3387409	210558338	32641035	63	112501											
PAX3	5077	broad.mit.edu	37	chr2	223160324	223160324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgaacatgcccgggTtctctcttttgtattcctca	7	14	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:223160324T>G	uc010fwo.2	-	3	740	c.374A>C	c.(373-375)AAC>ACC	p.N125T	PAX3_uc002vmt.1_Missense_Mutation_p.N125T|PAX3_uc002vmy.1_Missense_Mutation_p.N124T|PAX3_uc002vmv.1_Missense_Mutation_p.N125T|PAX3_uc002vmw.1_Missense_Mutation_p.N125T|PAX3_uc002vmx.1_Missense_Mutation_p.N125T|PAX3_uc002vmz.1_Missense_Mutation_p.N125T|PAX3_uc002vna.1_Missense_Mutation_p.N125T|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	125	Paired.				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	p.N125K(1)	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		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)		CATGCCCGGGTTCTCTCTTTT	0.537			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						G	223160324	T	G	223160324	3	3	212	1	0	0	0	0	1	0	0	0	11480	1725	60	5	1304	5	PAX3	2	223160324	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	12601986	223160324	20039049	64	112502											
SCG2	7857	broad.mit.edu	37	chr2	224462806	224462806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggtctggatggtctaAgtcagcctctgagatgtcat	12	8	5	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:224462806A>C	uc002vnm.2	-	2	1328	c.1195T>G	c.(1195-1197)TTA>GTA	p.L399V		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	399					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			ovary(1)	1		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)		GGATGGTCTAAGTCAGCCTCT	0.532													C	224462806	A	C	224462806	3	2	212	1	0	0	0	0	1	0	0	0	13891	69	3	5	662	5	SCG2	2	224462806	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	1302482	224462806	18736567	65	112503											
IRS1	3667	broad.mit.edu	37	chr2	227662033	227662033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgggggcggtcagggtGgagggccccttgccacccat	17	13	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr2:227662033G>A	uc002voh.3	-	1	1474	c.1422C>T	c.(1420-1422)TCC>TCT	p.S474S		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	474					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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		CGGTCAGGGTGGAGGGCCCCT	0.642											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662033	G	A	227662033	2	1	212	1	0	0	0	0	0	0	0	1	7840	1335	47	4		4	IRS1	2	227662033	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	3199227	227662033	15537340	66	112504											
SATB1	6304	broad.mit.edu	37	chr3	18427901	18427901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccgcacctggggaggaCggctgggtggtgtgctgatg	20	8	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:18427901C>T	uc003cbh.2	-	8	3144	c.1409G>A	c.(1408-1410)CGT>CAT	p.R470H	SATB1_uc003cbi.2_Missense_Mutation_p.R470H|SATB1_uc003cbj.2_Missense_Mutation_p.R470H	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	470					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CTGGGGAGGACGGCTGGGTGG	0.488													T	18427901	C	T	18427901	3	4	212	1	0	0	0	0	1	0	0	0	13853	536	19	1	898	1	SATB1	3	18427901	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08		18427901	179594529	67	112505											
KCNH8	131096	broad.mit.edu	37	chr3	19498345	19498345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggctttaacctactgTgatctccagtgtatcatcct	7	10	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:19498345T>G	uc003cbk.1	+	11	2106	c.1911T>G	c.(1909-1911)TGT>TGG	p.C637W	KCNH8_uc010hex.1_Missense_Mutation_p.C98W	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	637	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TAACCTACTGTGATCTCCAGT	0.408													G	19498345	T	G	19498345	3	3	212	1	0	0	0	0	1	0	0	0	8038	1702	59	5	1953	5	KCNH8	3	19498345	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1070444	19498345	178524085	68	112506											
SCN5A	6331	broad.mit.edu	37	chr3	38616871	38616871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggtagcaggtcttgcGcaaccgccaccagaccttcc	11	14	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:38616871G>A	uc003cio.2	-	20	3777	c.3583C>T	c.(3583-3585)CGC>TGC	p.R1195C	SCN5A_uc003cin.2_Missense_Mutation_p.R1194C|SCN5A_uc003cil.3_Missense_Mutation_p.R1195C|SCN5A_uc010hhi.2_Missense_Mutation_p.R1195C|SCN5A_uc010hhk.2_Missense_Mutation_p.R1194C|SCN5A_uc011ayr.1_Missense_Mutation_p.R1141C|SCN5A_uc010hhj.1_Missense_Mutation_p.R805C	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1195					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CAGGTCTTGCGCAACCGCCAC	0.612													A	38616871	G	A	38616871	3	1	212	1	0	0	0	0	1	0	0	0	13922	1087	38	1	2503	1	SCN5A	3	38616871	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	19118526	38616871	159405559	69	112507											
DOCK3	1795	broad.mit.edu	37	chr3	50971428	50971428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaggcagtatgaaactgtgGttccacttgaagattctatt	9	7	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:50971428G>T	uc011bds.1	+	5	258	c.235G>T	c.(235-237)GTT>TTT	p.V79F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	79						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAAACTGTGGTTCCACTTGA	0.398													T	50971428	G	T	50971428	3	4	212	1	0	0	0	0	1	0	0	0	4688	1261	44	5	253	5	DOCK3	3	50971428	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	12354557	50971428	147051002	70	112508											
ACTR8	93973	broad.mit.edu	37	chr3	53906522	53906522	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccaacgattccaaaAgttgcggggtaaaacaaagc	9	9	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:53906522A>C	uc003dhd.2	-	10	1250	c.1191T>G	c.(1189-1191)ACT>ACG	p.T397T	ACTR8_uc003dhb.2_Silent_p.T102T|ACTR8_uc003dhc.2_Silent_p.T286T	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	397					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.T397I(1)		ovary(1)|central_nervous_system(1)	2				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)		CGATTCCAAAAGTTGCGGGGT	0.443													C	53906522	A	C	53906522	2	2	212	1	0	0	0	0	0	0	0	1	217	59	3	5		5	ACTR8	3	53906522	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2935094	53906522	144115908	71	112509											
ERC2	26059	broad.mit.edu	37	chr3	56183132	56183132	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctcaagatcccttatgTttcgttccaatgaagcgatt	6	11	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:56183132T>G	uc003dhr.1	-	5	1434	c.1178A>C	c.(1177-1179)AAC>ACC	p.N393T		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	393	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCCCTTATGTTTCGTTCCAA	0.328													G	56183132	T	G	56183132	3	3	212	1	0	0	0	0	1	0	0	0	5211	1725	60	5	1737	5	ERC2	3	56183132	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2276610	56183132	141839298	72	112510											
SLC15A2	6565	broad.mit.edu	37	chr3	121641917	121641917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatggatgtaaaggcactgAccagggtactattcctttat	9	7	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:121641917A>C	uc003eep.2	+	10	1051	c.898A>C	c.(898-900)ACC>CCC	p.T300P	SLC15A2_uc011bjn.1_Missense_Mutation_p.T269P	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	300	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAAGGCACTGACCAGGGTACT	0.433													C	121641917	A	C	121641917	3	2	212	1	0	0	0	0	1	0	0	0	14399	275	10	5	936	5	SLC15A2	3	121641917	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	65458785	121641917	76380513	73	112511											
SEMA5B	54437	broad.mit.edu	37	chr3	122629130	122629130	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtcatcagggatcaAgttattcttgttcagggtct	11	8	7	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:122629130A>G	uc003efz.1	-	23	3620	c.3316T>C	c.(3316-3318)TTG>CTG	p.L1106L	SEMA5B_uc011bju.1_Silent_p.L1012L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003efy.1_Silent_p.L84L	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1106	Cytoplasmic (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TCAGGGATCAAGTTATTCTTG	0.527													G	122629130	A	G	122629130	2	3	212	1	0	0	0	0	0	0	0	1	14038	69	3	3		3	SEMA5B	3	122629130	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	987213	122629130	75393300	74	112512											
MYLK	4638	broad.mit.edu	37	chr3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcagtgctcctggcGcgcggccaggatggtgagct	17	13	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:123383036G>A	uc003ego.2	-	23	4183	c.3901C>T	c.(3901-3903)CGC>TGC	p.R1301C	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.R101C|MYLK_uc011bjw.1_Missense_Mutation_p.R1301C|MYLK_uc003egp.2_Missense_Mutation_p.R1232C|MYLK_uc003egq.2_Missense_Mutation_p.R1301C|MYLK_uc003egr.2_Missense_Mutation_p.R1232C|MYLK_uc003egs.2_Missense_Mutation_p.R1125C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627													A	123383036	G	A	123383036	3	1	212	1	0	0	0	0	1	0	0	0	10056	1087	38	1	1891	1	MYLK	3	123383036	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	753906	123383036	74639394	75	112513											
MFSD1	64747	broad.mit.edu	37	chr3	158538076	158538076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatttatcatctgtgtctGctattatgttgctgtgttcc	7	7	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:158538076G>A	uc003fcl.1	+	9	854	c.824G>A	c.(823-825)TGC>TAC	p.C275Y	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.C178Y|MFSD1_uc011bow.1_Missense_Mutation_p.C236Y|MFSD1_uc011box.1_Missense_Mutation_p.C202Y	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	275	Helical; (Potential).			C -> R (in Ref. 1; BAB20269).	transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCTGTGTCTGCTATTATGTT	0.348													A	158538076	G	A	158538076	3	1	212	1	0	0	0	0	1	0	0	0	9527	1319	46	2	1005	2	MFSD1	3	158538076	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	35155040	158538076	39484354	76	112514											
EIF4G1	1981	broad.mit.edu	37	chr3	184049780	184049780	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtgctgaaagcgcgagcGaagctgctgcagaaatacct	13	10	0	2	rs112264710	byFrequency	TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr3:184049780G>A	uc003fnp.2	+	32	4722	c.4524G>A	c.(4522-4524)GCG>GCA	p.A1508A	EIF4G1_uc003fnt.2_Silent_p.A1219A|EIF4G1_uc003fnq.2_Silent_p.A1421A|EIF4G1_uc003fnr.2_Silent_p.A1344A|EIF4G1_uc010hxx.2_Silent_p.A1515A|EIF4G1_uc003fns.2_Silent_p.A1468A|EIF4G1_uc010hxy.2_Silent_p.A1515A|EIF4G1_uc003fnv.3_Silent_p.A1509A|EIF4G1_uc003fnu.3_Silent_p.A1508A|EIF4G1_uc003fnw.2_Silent_p.A1515A|EIF4G1_uc003fnx.2_Silent_p.A1313A|EIF4G1_uc003fny.3_Silent_p.A1312A|EIF4G1_uc003foa.2_Silent_p.A180A	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1508	W2.|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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGCGCGAGCGAAGCTGCTGC	0.547													A	184049780	G	A	184049780	2	1	212	1	0	0	0	0	0	0	0	1	5036	1045	37	1		1	EIF4G1	3	184049780	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	25511704	184049780	13972650	77	112515											
SH3TC1	54436	broad.mit.edu	37	chr4	8233834	8233834	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacaaggtgctggaggggCagctcctggagaccatcagc	15	12	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:8233834C>T	uc003gkv.3	+	13	3183	c.3082C>T	c.(3082-3084)CAG>TAG	p.Q1028*	SH3TC1_uc003gkw.3_Nonsense_Mutation_p.Q952*|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1028	TPR 7.						binding			large_intestine(2)|pancreas(1)	3						GCTGGAGGGGCAGCTCCTGGA	0.532													T	8233834	C	T	8233834	4	4	212	1	0	0	0	0	0	1	0	0	14261	711	25	2	3128	2	SH3TC1	4	8233834	Nonsense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08		8233834	182920442	78	112516											
KCNIP4	80333	broad.mit.edu	37	chr4	20751288	20751288	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataatccagagcttacctcGaaactcacagctccattgtg	6	12	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:20751288G>A	uc003gqe.2	-	4	459	c.375C>T	c.(373-375)TTC>TTT	p.F125F	KCNIP4_uc003gqf.1_Silent_p.F121F|KCNIP4_uc003gqg.1_Silent_p.F80F|KCNIP4_uc003gqh.1_Silent_p.F117F|KCNIP4_uc003gqi.1_Silent_p.F80F|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Silent_p.F122F|KCNIP4_uc003gqd.3_Silent_p.F105F	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	142	EF-hand 2.|1 (Potential).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)				AGCTTACCTCGAAACTCACAG	0.358													A	20751288	G	A	20751288	2	1	212	1	0	0	0	0	0	0	0	1	8042	1049	37	1		1	KCNIP4	4	20751288	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	12517454	20751288	170402988	79	112517											
OCIAD1	54940	broad.mit.edu	37	chr4	48853965	48853965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaatgaatctgctcccActggtattactgatcatatt	6	9	2	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:48853965A>G	uc003gyo.2	+	7	777	c.520A>G	c.(520-522)ACT>GCT	p.T174A	OCIAD1_uc011bzk.1_RNA|OCIAD1_uc003gyr.2_Missense_Mutation_p.T174A|OCIAD1_uc003gyp.2_Missense_Mutation_p.T174A|OCIAD1_uc003gys.2_Missense_Mutation_p.T174A|OCIAD1_uc003gyq.2_Missense_Mutation_p.T174A|OCIAD1_uc010igk.2_Missense_Mutation_p.T179A	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1 isoform 1	174						endosome	protein binding				0						ATCTGCTCCCACTGGTATTAC	0.358													G	48853965	A	G	48853965	3	3	212	1	0	0	0	0	1	0	0	0	10817	159	6	3	561	3	OCIAD1	4	48853965	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	28102677	48853965	142300311	80	112518											
AASDH	132949	broad.mit.edu	37	chr4	57221402	57221402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tataaatggtcgcccaacttGatacctctgtgataccataa	6	10	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:57221402G>A	uc003hbn.2	-	6	1202	c.1049C>T	c.(1048-1050)TCA>TTA	p.S350L	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.S197L|AASDH_uc003hbo.2_Missense_Mutation_p.S250L|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.S350L|AASDH_uc003hbp.2_Missense_Mutation_p.S350L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	350					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CGCCCAACTTGATACCTCTGT	0.378													A	57221402	G	A	57221402	3	1	212	1	0	0	0	0	1	0	0	0	22	1294	45	4	2287	4	AASDH	4	57221402	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	8367437	57221402	133932874	81	112519											
EPHA5	2044	broad.mit.edu	37	chr4	66356240	66356240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggtgtttttcaggccGctttgccggggaaggtacct	14	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:66356240G>A	uc003hcy.2	-	5	1450	c.1257C>T	c.(1255-1257)AGC>AGT	p.S419S	EPHA5_uc003hcx.2_Silent_p.S350S|EPHA5_uc003hcz.2_Silent_p.S419S|EPHA5_uc011cah.1_Silent_p.S419S|EPHA5_uc011cai.1_Silent_p.S419S|EPHA5_uc003hda.2_Silent_p.S419S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	419	Fibronectin type-III 1.|Extracellular (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTTTCAGGCCGCTTTGCCGGG	0.502										TSP Lung(17;0.13)			A	66356240	G	A	66356240	2	1	212	1	0	0	0	0	0	0	0	1	5170	1078	38	1		1	EPHA5	4	66356240	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	9134838	66356240	124798036	82	112520											
CENPC1	1060	broad.mit.edu	37	chr4	68383923	68383923	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacaatgttgaaaaacTttttttagcttgtcgttgaa	6	4	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:68383923T>A	uc003hdd.1	-	7	964	c.781A>T	c.(781-783)AGT>TGT	p.S261C	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.S261C	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	261	Nuclear localization signal (Potential).				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						GTTGAAAAACTTTTTTTAGCT	0.313													A	68383923	T	A	68383923	3	1	212	1	0	0	0	0	1	0	0	0	3229	1609	56	5	2102	5	CENPC1	4	68383923	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2027683	68383923	122770353	83	112521											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69101927	69101927	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagctgcgttttcacaaTtatcattgtatgtgactcca	8	8	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:69101927T>G	uc003hdw.3	-	3	318	c.182A>C	c.(181-183)AAT>ACT	p.N61T		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	61	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						GTTTTCACAATTATCATTGTA	0.279													G	69101927	T	G	69101927	3	3	212	1	0	0	0	0	1	0	0	0	16237	1493	52	5	1100	5	TMPRSS11B	4	69101927	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	718004	69101927	122052349	84	112522											
KLHL8	57563	broad.mit.edu	37	chr4	88104378	88104378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatgcttccttggggtaGtccgaatggagtattcaaag	12	7	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:88104378G>A	uc011cdb.1	-	4	1314	c.929C>T	c.(928-930)ACT>ATT	p.T310I	KLHL8_uc003hql.1_Missense_Mutation_p.T310I|KLHL8_uc003hqm.1_Missense_Mutation_p.T234I|KLHL8_uc003hqn.1_Missense_Mutation_p.T127I|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	310											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCTTGGGGTAGTCCGAATGGA	0.393													A	88104378	G	A	88104378	3	1	212	1	0	0	0	0	1	0	0	0	8395	1029	36	4	961	4	KLHL8	4	88104378	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	19002451	88104378	103049898	85	112523											
INTU	27152	broad.mit.edu	37	chr4	128627894	128627894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctattctcagtaggctaCaaggtacttccaaagtagca	8	11	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:128627894C>A	uc003ifk.1	+	12	2111	c.2041C>A	c.(2041-2043)CAA>AAA	p.Q681K	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	681										ovary(1)	1						CAGTAGGCTACAAGGTACTTC	0.453													A	128627894	C	A	128627894	3	1	212	1	0	0	0	0	1	0	0	0	7786	479	17	5	2087	5	INTU	4	128627894	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	40523516	128627894	62526382	86	112524											
PCDH18	54510	broad.mit.edu	37	chr4	138451451	138451451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattcttgtgacatgaaAgccactttcagcccctttgg	7	12	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:138451451A>C	uc003ihe.3	-	1	2179	c.1792T>G	c.(1792-1794)TTT>GTT	p.F598V	PCDH18_uc003ihf.3_Missense_Mutation_p.F591V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.F378V|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	598	Cadherin 6.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GTGACATGAAAGCCACTTTCA	0.443													C	138451451	A	C	138451451	3	2	212	1	0	0	0	0	1	0	0	0	11513	72	3	5	1631	5	PCDH18	4	138451451	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	9823557	138451451	52702825	87	112525											
F11	2160	broad.mit.edu	37	chr4	187197505	187197505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcccggttgcttgttttTtaccttcttttcccaggaat	6	11	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr4:187197505T>G	uc003iza.1	+	7	1049	c.716T>G	c.(715-717)TTT>TGT	p.F239C		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	239	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGCTTGTTTTTTACCTTCTTT	0.418													G	187197505	T	G	187197505	3	3	212	1	0	0	0	0	1	0	0	0	5337	1841	64	5	738	5	F11	4	187197505	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	48746054	187197505	3956771	88	112526											
CEP72	55722	broad.mit.edu	37	chr5	620252	620252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctcctcgttggcagaAgtgtttcggctccacgcctt	10	13	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:620252A>C	uc003jbf.2	+	3	351	c.279A>C	c.(277-279)GAA>GAC	p.E93D	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	93	LRR 3.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGTTGGCAGAAGTGTTTCGGC	0.512													C	620252	A	C	620252	3	2	212	1	0	0	0	0	1	0	0	0	3260	69	3	5	289	5	CEP72	5	620252	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08		620252	180295008	89	112527											
ADCY2	108	broad.mit.edu	37	chr5	7820785	7820785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatggacagcaccggaGtcctggacaaaatacaggta	13	8	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:7820785G>T	uc003jdz.1	+	24	3173	c.3106G>T	c.(3106-3108)GTC>TTC	p.V1036F	ADCY2_uc011cmo.1_Missense_Mutation_p.V856F|ADCY2_uc010itm.1_Missense_Mutation_p.V232F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	1036	Cytoplasmic (Potential).				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			ovary(5)|pancreas(1)|skin(1)	7						CAGCACCGGAGTCCTGGACAA	0.473													T	7820785	G	T	7820785	3	4	212	1	0	0	0	0	1	0	0	0	294	1029	36	5	3200	5	ADCY2	5	7820785	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7200533	7820785	173094475	90	112528											
CDH9	1007	broad.mit.edu	37	chr5	26886151	26886151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagaatttgtgacctcgGggagggtcatccttatccat	10	8	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:26886151G>A	uc003jgs.1	-	10	1723	c.1554C>T	c.(1552-1554)CCC>CCT	p.P518P	CDH9_uc011cnv.1_Silent_p.P111P	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	518	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TGTGACCTCGGGGAGGGTCAT	0.323													A	26886151	G	A	26886151	2	1	212	1	0	0	0	0	0	0	0	1	3117	1219	43	4		4	CDH9	5	26886151	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	19065366	26886151	154029109	91	112529											
RAI14	26064	broad.mit.edu	37	chr5	34796122	34796122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggatgtgacagcccaAgatactaccggtatgtggtt	14	7	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:34796122A>C	uc003jir.2	+	4	442	c.246A>C	c.(244-246)CAA>CAC	p.Q82H	RAI14_uc010iur.2_Missense_Mutation_p.Q82H|RAI14_uc011coj.1_Missense_Mutation_p.Q82H|RAI14_uc010ius.1_Missense_Mutation_p.Q11H|RAI14_uc003jis.2_Missense_Mutation_p.Q85H|RAI14_uc003jit.2_Missense_Mutation_p.Q82H|RAI14_uc011cok.1_Missense_Mutation_p.Q74H	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	82						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					TGACAGCCCAAGATACTACCG	0.398													C	34796122	A	C	34796122	3	2	212	1	0	0	0	0	1	0	0	0	13008	69	3	5	321	5	RAI14	5	34796122	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	7909971	34796122	146119138	92	112530											
DNAJC21	134218	broad.mit.edu	37	chr5	34941212	34941212	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtcataggtaaagacagtGatgaggccgaggacgctgag	15	7	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:34941212G>A	uc003jjc.2	+	7	1134	c.907G>A	c.(907-909)GAT>AAT	p.D303N	DNAJC21_uc003jjb.2_Missense_Mutation_p.D303N|DNAJC21_uc010iuu.1_Missense_Mutation_p.D187N	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	303	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAAAGACAGTGATGAGGCCGA	0.358													A	34941212	G	A	34941212	3	1	212	1	0	0	0	0	1	0	0	0	4640	1290	45	4	933	4	DNAJC21	5	34941212	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	145090	34941212	145974048	93	112531											
LMBRD2	92255	broad.mit.edu	37	chr5	36116613	36116613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgatgtgaggccaaaTaataatagttaaatacacga	9	5	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:36116613T>C	uc003jkb.1	-	11	1800	c.1385A>G	c.(1384-1386)TAT>TGT	p.Y462C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	462	Cytoplasmic (Potential).					integral to membrane					0	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)			TGAGGCCAAATAATAATAGTT	0.353													C	36116613	T	C	36116613	3	2	212	1	0	0	0	0	1	0	0	0	8843	1406	49	3	734	3	LMBRD2	5	36116613	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1175401	36116613	144798647	94	112532											
LIFR	3977	broad.mit.edu	37	chr5	38490328	38490328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaatcatggagcgtaataAttgatatccttgatttctgc	7	8	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:38490328A>G	uc010ive.1	-	15	2463	c.2131T>C	c.(2131-2133)TTA>CTA	p.L711L	LIFR_uc003jli.2_Silent_p.L711L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	711	Fibronectin type-III 5.|Extracellular (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					GAGCGTAATAATTGATATCCT	0.313			T	PLAG1	salivary adenoma								G	38490328	A	G	38490328	2	3	212	1	0	0	0	0	0	0	0	1	8780	98	4	3		3	LIFR	5	38490328	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2373715	38490328	142424932	95	112533											
RICTOR	253260	broad.mit.edu	37	chr5	39002699	39002699	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaatactggagtcttggatGagatatcgaagcgctcgtag	13	6	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:39002699G>A	uc003jlp.2	-	5	354	c.330C>T	c.(328-330)CTC>CTT	p.L110L	RICTOR_uc003jlo.2_Silent_p.L110L|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Silent_p.L94L|RICTOR_uc011cpk.1_Silent_p.L110L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	110					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			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AGTCTTGGATGAGATATCGAA	0.348													A	39002699	G	A	39002699	2	1	212	1	0	0	0	0	0	0	0	1	13358	1277	45	4		4	RICTOR	5	39002699	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	512371	39002699	141912561	96	112534											
NNT	23530	broad.mit.edu	37	chr5	43619206	43619206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatcacagctgctggaaaAgttcctccagctaaggtagg	11	10	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:43619206A>C	uc003joe.2	+	5	927	c.672A>C	c.(670-672)AAA>AAC	p.K224N	NNT_uc003jof.2_Missense_Mutation_p.K224N	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	224	Mitochondrial matrix.				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			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTGCTGGAAAAGTTCCTCCAG	0.289													C	43619206	A	C	43619206	3	2	212	1	0	0	0	0	1	0	0	0	10510	69	3	5	686	5	NNT	5	43619206	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	4616507	43619206	137296054	97	112535											
PIK3R1	5295	broad.mit.edu	37	chr5	67575545	67575545	+	Frame_Shift_Del	DEL	G	G	-													gcagccgtttacagtgaaatGatttctttagctccaggttt							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:67575545delG	uc003jva.2	+	5	1178	c.618delG	c.(616-618)ATGfs	p.M206fs	PIK3R1_uc003jvb.2_Frame_Shift_Del_p.M206fs	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	206	Rho-GAP.				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.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		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)	ACAGTGAAATGATTTCTTTAG	0.403			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			-	67575545	G	-	67575545	7	5	212	1	0	1	0	1	0	0	0	0	11918	1290	45	0	632	0	PIK3R1	5	67575545	Frame_Shift_Del	DEL	G	TCGA-D7-6528-01A-11D-1800-08	23956339	67575545	113339715	98	112536											
APC	324	broad.mit.edu	37	chr5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A													aaaccaagagaaagaggcagINSaaaaaactattgattctgaa							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:112175951_112175952insA	uc010jby.2	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)GAAfs	p.E1554fs	APC_uc011cvt.1_Frame_Shift_Ins_p.E1536fs|APC_uc003kpz.3_Frame_Shift_Ins_p.E1554fs|APC_uc003kpy.3_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.2_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.2_Frame_Shift_Ins_p.E854fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1554	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.T1556fs*3(35)|p.E1554fs*5(2)|p.E1554*(2)|p.?(1)|p.T1556fs*9(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1554fs*11(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		GAAAGAGGCAGAAAAAACTATT	0.342		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112175952	-	A	112175951	7	5	212	1	0	1	1	0	0	0	0	0	763	943	33	0	4718	0	APC	5	112175951	Frame_Shift_Ins	INS	-	TCGA-D7-6528-01A-11D-1800-08	44600406	112175951	68739309	99	112537	532	2									
APC	324	broad.mit.edu	37	chr5	112175952	112175953	+	Frame_Shift_Ins	INS	-	-	A													aaccaagagaaagaggcagaINSaaaaactattgattctgaaa							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:112175951_112175952G>GA	uc003kpz.4	+	16	4853_4854	c.4660_4661G>GA	c.(4660-4662)gaafs	p.E1554fs	APC_uc011cvt.2_Frame_Shift_Ins_p.E1536fs|APC_uc003kpy.4_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.3_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.3_Frame_Shift_Ins_p.E854fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1554	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.T1556fs*3(42)|p.E1554fs*5(4)|p.E1554*(3)|p.E1554fs*3(2)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554fs*11(1)|p.A1553fs*14(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)		GAAAGAGGCAGAAAAAACTATT	0.342		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)			A	112175953	-	A	112175952	7	5	212	1	0	1	1	0	0	0	0	0	763	246	9	0	4719	0	APC	5	112175952	Frame_Shift_Ins	INS	-	TCGA-D7-6528-01A-11D-1800-08	1	112175952	68739308	100	112538	532	2									
SNCAIP	9627	broad.mit.edu	37	chr5	121780267	121780267	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttctgacagaccttggttGaatatggagcaaatgtcacc	9	8	2	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:121780267G>A	uc003ksw.1	+	8	1638	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E36K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E525K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E112K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E112K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E74K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E112K|SNCAIP_uc003kta.1_Missense_Mutation_p.E110K|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.E172K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E418K|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_5'UTR	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	478	ANK 4.				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			ovary(1)|pancreas(1)	2		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)		GACCTTGGTTGAATATGGAGC	0.478													A	121780267	G	A	121780267	3	1	212	1	0	0	0	0	1	0	0	0	14841	1291	45	4	1458	4	SNCAIP	5	121780267	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	9604315	121780267	59134993	101	112539											
SLC27A6	28965	broad.mit.edu	37	chr5	128320858	128320858	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggtagaagaaatccttccaAgcctctcagaaaatatcagt	7	10	2	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:128320858A>T	uc003kuy.2	+	3	910	c.514A>T	c.(514-516)AGC>TGC	p.S172C	SLC27A6_uc003kuz.2_Missense_Mutation_p.S172C	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	172					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				0		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)		AATCCTTCCAAGCCTCTCAGA	0.413													T	128320858	A	T	128320858	3	4	212	1	0	0	0	0	1	0	0	0	14530	72	3	5	520	5	SLC27A6	5	128320858	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	6540591	128320858	52594402	102	112540											
PCDHA7	56141	broad.mit.edu	37	chr5	140216062	140216062	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctggtggatgtcaacgtGtacctgatcatcgccatctg	12	10	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:140216062G>T	uc003lhq.2	+	1	2094	c.2094G>T	c.(2092-2094)GTG>GTT	p.V698V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.V698V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	698	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCAACGTGTACCTGATCA	0.632													T	140216062	G	T	140216062	2	4	212	1	0	0	0	0	0	0	0	1	11529	1364	48	5		5	PCDHA7	5	140216062	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	11895204	140216062	40699198	103	112541											
PCDHA8	56140	broad.mit.edu	37	chr5	140221014	140221014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccactactccgtcccCgaggaggccaaacacggcac	9	18	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:140221014C>T	uc003lhs.2	+	1	108	c.108C>T	c.(106-108)CCC>CCT	p.P36P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P36P	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	36	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGTCCCCGAGGAGGCCA	0.667													T	140221014	C	T	140221014	2	4	212	1	0	0	0	0	0	0	0	1	11530	639	23	1		1	PCDHA8	5	140221014	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4952	140221014	40694246	104	112542											
PCDHB7	56129	broad.mit.edu	37	chr5	140554036	140554036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaccgcggctcccccgcGctgagcagcgaggcgctggt	15	16	0	2	rs17844465		TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:140554036G>A	uc003lit.2	+	1	1794	c.1620G>A	c.(1618-1620)GCG>GCA	p.A540A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	540	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCCGCGCTGAGCAGCG	0.701													A	140554036	G	A	140554036	2	1	212	1	0	0	0	0	0	0	0	1	11547	1074	38	1		1	PCDHB7	5	140554036	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	333022	140554036	40361224	105	112543											
PCDHB8	56128	broad.mit.edu	37	chr5	140559856	140559856	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggcaccgggagcctgtcTcagaactatcagtacgaggt	14	10	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:140559856T>C	uc011dai.1	+	1	2427	c.2241T>C	c.(2239-2241)TCT>TCC	p.S747S	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	747	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCCTGTCTCAGAACTATC	0.582													C	140559856	T	C	140559856	2	2	212	1	0	0	0	0	0	0	0	1	11548	1538	54	3		3	PCDHB8	5	140559856	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	5820	140559856	40355404	106	112544											
PCDHB12	56124	broad.mit.edu	37	chr5	140588829	140588829	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaccccacgcagttttTacaaattgagctccaggtca	7	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:140588829T>A	uc003liz.2	+	1	539	c.350T>A	c.(349-351)TTA>TAA	p.L117*	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	117	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCAGTTTTTACAAATTGAG	0.448													A	140588829	T	A	140588829	4	1	212	1	0	0	0	0	0	1	0	0	11537	1764	61	5	352	5	PCDHB12	5	140588829	Nonsense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	28973	140588829	40326431	107	112545											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734980	140734980	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcatcgtctccagaggtagGacgcagcttttcgccctgaa	11	13	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:140734980G>A	uc003ljq.1	+	1	213	c.213G>A	c.(211-213)AGG>AGA	p.R71R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.R71R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	71	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAGGTAGGACGCAGCTTT	0.637													A	140734980	G	A	140734980	2	1	212	1	0	0	0	0	0	0	0	1	11556	1165	41	4		4	PCDHGA4	5	140734980	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	146151	140734980	40180280	108	112546											
KCTD16	57528	broad.mit.edu	37	chr5	143586929	143586929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagagaccctgatcgaGccccagaaagatacacctcc	8	14	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:143586929G>A	uc003lnm.1	+	3	1281	c.652G>A	c.(652-654)GCC>ACC	p.A218T	KCTD16_uc003lnn.1_Missense_Mutation_p.A218T	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	218						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCCTGATCGAGCCCCAGAAAG	0.443													A	143586929	G	A	143586929	3	1	212	1	0	0	0	0	1	0	0	0	8103	971	34	2	654	2	KCTD16	5	143586929	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2851949	143586929	37328331	109	112547											
ADAM19	8728	broad.mit.edu	37	chr5	156918907	156918907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtgttcctgcactgcCcctcaaagcaaatctgcacg	10	13	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:156918907C>T	uc003lwz.2	-	17	1986	c.1922G>A	c.(1921-1923)GGG>GAG	p.G641E	ADAM19_uc003lww.1_Missense_Mutation_p.G374E|ADAM19_uc003lwy.2_Missense_Mutation_p.G240E|ADAM19_uc011ddr.1_Missense_Mutation_p.G572E	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	641	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	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)			CCTGCACTGCCCCTCAAAGCA	0.517													T	156918907	C	T	156918907	3	4	212	1	0	0	0	0	1	0	0	0	240	623	22	4	862	4	ADAM19	5	156918907	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	13331978	156918907	23996353	110	112548											
GABRA1	2554	broad.mit.edu	37	chr5	161322838	161322838	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactatttcactaagagaggTtatgcatgggatggcaaaag	11	5	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:161322838T>G	uc010jiw.2	+	10	1491	c.1023T>G	c.(1021-1023)GGT>GGG	p.G341G	GABRA1_uc010jix.2_Silent_p.G341G|GABRA1_uc010jiy.2_Silent_p.G341G|GABRA1_uc003lyx.3_Silent_p.G341G|GABRA1_uc010jiz.2_Silent_p.G341G|GABRA1_uc010jja.2_Silent_p.G341G|GABRA1_uc010jjb.2_Silent_p.G341G	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	341	Cytoplasmic (Probable).				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			ovary(2)|pancreas(1)	3	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)	CTAAGAGAGGTTATGCATGGG	0.383													G	161322838	T	G	161322838	2	3	212	1	0	0	0	0	0	0	0	1	6160	1712	60	5		5	GABRA1	5	161322838	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4403931	161322838	19592422	111	112549											
ZNF354C	30832	broad.mit.edu	37	chr5	178505938	178505938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgaattggggaaaagcTtatttacaaatacagctctt	8	6	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr5:178505938T>C	uc003mju.2	+	5	620	c.505T>C	c.(505-507)TTA>CTA	p.L169L		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		GGGGAAAAGCTTATTTACAAA	0.343													C	178505938	T	C	178505938	2	2	212	1	0	0	0	0	0	0	0	1	17863	1606	56	3		3	ZNF354C	5	178505938	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	17183100	178505938	2409322	112	112550											
FAM65B	9750	broad.mit.edu	37	chr6	24873165	24873165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacttgtccagctccgTctggtgaacctccagatatt	8	12	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:24873165T>C	uc003neo.1	-	4	456	c.280A>G	c.(280-282)ACG>GCG	p.T94A	FAM65B_uc011djs.1_Missense_Mutation_p.T123A|FAM65B_uc011dju.1_Missense_Mutation_p.T128A|FAM65B_uc003nep.2_Missense_Mutation_p.T94A|FAM65B_uc011djt.1_Missense_Mutation_p.T94A	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	94	Potential.|Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						TCCAGCTCCGTCTGGTGAACC	0.408													C	24873165	T	C	24873165	3	2	212	1	0	0	0	0	1	0	0	0	5600	1667	58	3	3016	3	FAM65B	6	24873165	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08		24873165	146241902	113	112551											
BAT2	7916	broad.mit.edu	37	chr6	31591675	31591675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcaaacaggagcagtcCgaccccaagaggtagacaga	12	11	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:31591675C>T	uc003nvb.3	+	3	528	c.279C>T	c.(277-279)TCC>TCT	p.S93S	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.S93S|BAT2_uc003nve.2_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	93	4 X 57 AA type A repeats.|1-1.					cytoplasm|nucleus	protein binding				0						AGGAGCAGTCCGACCCCAAGA	0.522													T	31591675	C	T	31591675	2	4	212	1	0	0	0	0	0	0	0	1	1319	639	23	1		1	BAT2	6	31591675	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	6718510	31591675	139523392	114	112552											
VARS	7407	broad.mit.edu	37	chr6	31750409	31750409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcaaacctgggcaggCcctgggtaggaatgaggcct	15	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:31750409C>T	uc003nxe.2	-	16	2312	c.1889G>A	c.(1888-1890)GGC>GAC	p.G630D	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	630					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCTGGGCAGGCCCTGGGTAGG	0.637													T	31750409	C	T	31750409	3	4	212	1	0	0	0	0	1	0	0	0	17120	753	26	2	1965	2	VARS	6	31750409	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	158734	31750409	139364658	115	112553											
DNAH8	1769	broad.mit.edu	37	chr6	38783350	38783350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcaacagcaaatccGtcccatcaagtctgtcattc	9	13	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:38783350G>A	uc003ooe.1	+	24	3389	c.2789G>A	c.(2788-2790)CGT>CAT	p.R930H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAGCAAATCCGTCCCATCAAG	0.463													A	38783350	G	A	38783350	3	1	212	1	0	0	0	0	1	0	0	0	4607	1145	40	1	2875	1	DNAH8	6	38783350	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7032941	38783350	132331717	116	112554											
C6orf138	442213	broad.mit.edu	37	chr6	47846507	47846507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctcaattgaggtgacGctaagaattagccagaagtt	10	9	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:47846507G>A	uc011dwm.1	-	3	2107	c.2022C>T	c.(2020-2022)AGC>AGT	p.S674S	C6orf138_uc011dwn.1_Silent_p.S438S	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	691	Helical; (Potential).					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						TTGAGGTGACGCTAAGAATTA	0.453													A	47846507	G	A	47846507	2	1	212	1	0	0	0	0	0	0	0	1	2332	1078	38	1		1	C6orf138	6	47846507	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	9063157	47846507	123268560	117	112555											
TFAP2D	83741	broad.mit.edu	37	chr6	50712857	50712857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggattttggctacacTtgtgaaacagagtttccagc	11	9	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:50712857T>C	uc003paf.2	+	6	1433	c.921T>C	c.(919-921)ACT>ACC	p.T307T	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	307	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					TTGGCTACACTTGTGAAACAG	0.443													C	50712857	T	C	50712857	2	2	212	1	0	0	0	0	0	0	0	1	15787	1596	56	3		3	TFAP2D	6	50712857	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2866350	50712857	120402210	118	112556											
DST	667	broad.mit.edu	37	chr6	56504281	56504281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcctagctatgttggtGtttctctcactccagtcata	6	10	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:56504281G>A	uc003pdf.2	-	20	2755	c.2727C>T	c.(2725-2727)AAC>AAT	p.N909N	DST_uc003pcz.3_Silent_p.N731N|DST_uc011dxj.1_Silent_p.N760N|DST_uc011dxk.1_Silent_p.N771N|DST_uc011dxl.1_Silent_p.N760N|DST_uc003pcy.3_Silent_p.N405N|DST_uc003pdb.2_Silent_p.N405N|DST_uc003pdc.3_Silent_p.N405N|DST_uc003pdd.3_Silent_p.N405N|DST_uc003pde.2_Silent_p.N847N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	731	Spectrin 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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTATGTTGGTGTTTCTCTCAC	0.348													A	56504281	G	A	56504281	2	1	212	1	0	0	0	0	0	0	0	1	4783	1368	48	4		4	DST	6	56504281	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	5791424	56504281	114610786	119	112557											
COL12A1	1303	broad.mit.edu	37	chr6	75799948	75799948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacccggcgggcctggcTggttgcgactggactggtaa	18	10	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:75799948T>C	uc003phs.2	-	63	8985	c.8819A>G	c.(8818-8820)CAG>CGG	p.Q2940R	COL12A1_uc003pht.2_Missense_Mutation_p.Q1776R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2940	Nonhelical region (NC2).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CGGGCCTGGCTGGTTGCGACT	0.572													C	75799948	T	C	75799948	3	2	212	1	0	0	0	0	1	0	0	0	3669	1580	55	3	388	3	COL12A1	6	75799948	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	19295667	75799948	95315119	120	112558											
PGM3	5238	broad.mit.edu	37	chr6	83889610	83889610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaagtggccatctgcAtcatggtagtaataaacaat	9	6	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:83889610A>G	uc003pjv.2	-	7	904	c.864T>C	c.(862-864)GAT>GAC	p.D288D	PGM3_uc003pjw.2_Silent_p.D207D|PGM3_uc011dyz.1_Silent_p.D316D	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	288					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GGCCATCTGCATCATGGTAGT	0.408													G	83889610	A	G	83889610	2	3	212	1	0	0	0	0	0	0	0	1	11800	214	8	3		3	PGM3	6	83889610	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	8089662	83889610	87225457	121	112559											
MDN1	23195	broad.mit.edu	37	chr6	90405430	90405430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgaggctcacccagaggCtcccacgctgggctggctca	13	16	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:90405430C>T	uc003pnn.1	-	61	9781	c.9665G>A	c.(9664-9666)AGC>AAC	p.S3222N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3222					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		CACCCAGAGGCTCCCACGCTG	0.592													T	90405430	C	T	90405430	3	4	212	1	0	0	0	0	1	0	0	0	9415	797	28	2	7293	2	MDN1	6	90405430	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	6515820	90405430	80709637	122	112560											
BEND3	57673	broad.mit.edu	37	chr6	107390518	107390518	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtccagacgcggtcgtttTtggcgcgtgggtagagcagc	18	9	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:107390518T>G	uc003prs.2	-	5	2527	c.1877A>C	c.(1876-1878)AAA>ACA	p.K626T		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	626	BEN 3.									ovary(3)	3						GCGGTCGTTTTTGGCGCGTGG	0.642													G	107390518	T	G	107390518	3	3	212	1	0	0	0	0	1	0	0	0	1399	1841	64	5	613	5	BEND3	6	107390518	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	16985088	107390518	63724549	123	112561											
RWDD1	51389	broad.mit.edu	37	chr6	116911490	116911490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttaaattggaaagccaAgtttgatgcagaactcttgg	9	6	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:116911490A>C	uc003pxd.2	+	5	633	c.470A>C	c.(469-471)AAG>ACG	p.K157T	RWDD1_uc003pxb.2_Missense_Mutation_p.K61T|RWDD1_uc003pxc.2_Missense_Mutation_p.K61T	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN	RWD domain containing 1 isoform a	157	Interaction with DRG2 (By similarity).						protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGGAAAGCCAAGTTTGATGCA	0.328													C	116911490	A	C	116911490	3	2	212	1	0	0	0	0	1	0	0	0	13754	72	3	5	488	5	RWDD1	6	116911490	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	9520972	116911490	54203577	124	112562											
ROS1	6098	broad.mit.edu	37	chr6	117632217	117632217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccgttccaagtagacacAgccttttgaaatatctacac	5	12	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:117632217A>C	uc003pxp.1	-	39	6398	c.6199T>G	c.(6199-6201)TGT>GGT	p.C2067G	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2067	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		AAGTAGACACAGCCTTTTGAA	0.383			T	GOPC|ROS1	glioblastoma|NSCLC								C	117632217	A	C	117632217	3	2	212	1	0	0	0	0	1	0	0	0	13531	188	7	5	864	5	ROS1	6	117632217	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	720727	117632217	53482850	125	112563											
C6orf58	352999	broad.mit.edu	37	chr6	127911272	127911272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcgcattttgagagaAgttgggtactggctgtggat	15	5	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:127911272A>C	uc003qbh.2	+	5	727	c.715A>C	c.(715-717)AGT>CGT	p.S239R		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	239						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTTGAGAGAAGTTGGGTACT	0.373													C	127911272	A	C	127911272	3	2	212	1	0	0	0	0	1	0	0	0	2367	72	3	5	733	5	C6orf58	6	127911272	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	10279055	127911272	43203795	126	112564											
LAMA2	3908	broad.mit.edu	37	chr6	129636643	129636644	+	Missense_Mutation	DNP	CC	CC	AT													gactctgaaggctgagcagaCcattctacccctggtagatg							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:129636643_129636644CC>AT	uc003qbn.2	+	25	3683_3684	c.3578_3579CC>AT	c.(3577-3579)ACC>AAT	p.T1193N	LAMA2_uc003qbo.2_Missense_Mutation_p.T1193N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1193	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTGAGCAGACCATTCTACCCC	0.47													AT	129636644	CC	AT	129636643	3	1	212	1	0	0	0	0	1	0	0	0	8606	507	18	5	3676	5	LAMA2	6	129636643	Missense_Mutation	DNP	CC	TCGA-D7-6528-01A-11D-1800-08	1725371	129636643	41478424	127	112565											
OLIG3	167826	broad.mit.edu	37	chr6	137814944	137814944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggagtgtggcgatcttggAgagcttgcgcaccgacggcc	16	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:137814944A>T	uc003qhp.1	-	1	588	c.364T>A	c.(364-366)TCC>ACC	p.S122T		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	122	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCGATCTTGGAGAGCTTGCGC	0.617													T	137814944	A	T	137814944	3	4	212	1	0	0	0	0	1	0	0	0	10862	304	11	5	458	5	OLIG3	6	137814944	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	8178301	137814944	33300123	128	112566											
SYNE1	23345	broad.mit.edu	37	chr6	152603109	152603109	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccagctgatcattcaActtctcctgttgaattcagt	5	12	4	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:152603109A>C	uc010kiw.2	-	97	18816	c.18214T>G	c.(18214-18216)TTG>GTG	p.L6072V	SYNE1_uc010kiv.2_Missense_Mutation_p.L596V|SYNE1_uc003qos.3_Missense_Mutation_p.L596V|SYNE1_uc003qot.3_Missense_Mutation_p.L6001V|SYNE1_uc003qou.3_Missense_Mutation_p.L6072V|SYNE1_uc010kiy.1_Missense_Mutation_p.L251V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6072	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATCATTCAACTTCTCCTGT	0.403										HNSCC(10;0.0054)			C	152603109	A	C	152603109	3	2	212	1	0	0	0	0	1	0	0	0	15442	40	2	5	8452	5	SYNE1	6	152603109	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	14788165	152603109	18511958	129	112567											
MAP3K4	4216	broad.mit.edu	37	chr6	161469776	161469777	+	Frame_Shift_Ins	INS	-	-	A													aacaacagagcgtgatcgtaINSaaaaaaatgtacagtgctca					rs80180935		TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:161469775_161469776T>TA	uc003qtn.3	+	2	613_614	c.471_472T>TA	c.(469-474)cgtaaafs	p.R157fs	MAP3K4_uc010kkc.1_Frame_Shift_Ins_p.R157fs|MAP3K4_uc003qto.3_Frame_Shift_Ins_p.R157fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	157			R -> H (in dbSNP:rs4559074).		JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.N160fs*8(2)		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)		AGCGTGATCGTAAAAAAAATGT	0.406													A	161469777	-	A	161469776	7	5	212	1	0	1	1	0	0	0	0	0	9252	363	13	0	482	0	MAP3K4	6	161469776	Frame_Shift_Ins	INS	-	TCGA-D7-6528-01A-11D-1800-08	8866667	161469776	9645291	130	112568											
TTLL2	83887	broad.mit.edu	37	chr6	167754541	167754541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacttgaaaccatggcttTtagaggtcaactacagccca	7	11	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr6:167754541T>G	uc003qvs.1	+	3	1241	c.1153T>G	c.(1153-1155)TTA>GTA	p.L385V	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	385	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		ACCATGGCTTTTAGAGGTCAA	0.413													G	167754541	T	G	167754541	3	3	212	1	0	0	0	0	1	0	0	0	16724	1838	64	5	1163	5	TTLL2	6	167754541	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6284765	167754541	3360526	131	112569											
DNAH11	8701	broad.mit.edu	37	chr7	21631031	21631031	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcgcacacagaaaaacgtgAaggtgatccagcagaccatg	11	10	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:21631031A>T	uc003svc.2	+	14	2534	c.2503A>T	c.(2503-2505)AAG>TAG	p.K835*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	835	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAAAAACGTGAAGGTGATCCA	0.602									Kartagener_syndrome				T	21631031	A	T	21631031	4	4	212	1	0	0	0	0	0	1	0	0	4599	247	9	5	2557	5	DNAH11	7	21631031	Nonsense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08		21631031	137507632	132	112570											
CCDC129	223075	broad.mit.edu	37	chr7	31690791	31690791	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggaagccatgaagacgatAtgccaaagtttccgggagta	12	7	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:31690791A>T	uc003tcj.1	+	12	3612	c.2619A>T	c.(2617-2619)ATA>ATT	p.I873I	CCDC129_uc011kad.1_Silent_p.I883I|CCDC129_uc003tci.1_Silent_p.I724I|CCDC129_uc011kae.1_Silent_p.I899I|CCDC129_uc003tck.1_Silent_p.I781I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	873											0						TGAAGACGATATGCCAAAGTT	0.463													T	31690791	A	T	31690791	2	4	212	1	0	0	0	0	0	0	0	1	2764	439	16	5		5	CCDC129	7	31690791	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	10059760	31690791	127447872	133	112571											
POU6F2	11281	broad.mit.edu	37	chr7	39247145	39247145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactgccaacagcgaatcTcaccaacatccaagggctgg	8	15	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:39247145T>C	uc003thb.1	+	4	479	c.437T>C	c.(436-438)CTC>CCC	p.L146P	POU6F2_uc010kxo.2_Missense_Mutation_p.L138P	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	146					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			central_nervous_system(1)	1						ACAGCGAATCTCACCAACATC	0.567													C	39247145	T	C	39247145	3	2	212	1	0	0	0	0	1	0	0	0	12285	1551	54	3	451	3	POU6F2	7	39247145	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	7556354	39247145	119891518	134	112572											
IGFBP3	3486	broad.mit.edu	37	chr7	45956889	45956889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtagtcaactttgtagcGctggctgtctttagcatgcc	10	11	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:45956889G>A	uc003tns.2	-	2	685	c.553C>T	c.(553-555)CGC>TGC	p.R185C	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.R191C|IGFBP3_uc003tnt.2_Missense_Mutation_p.R88C	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	185					negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	ACTTTGTAGCGCTGGCTGTCT	0.507											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45956889	G	A	45956889	3	1	212	1	0	0	0	0	1	0	0	0	7580	1087	38	1	334	1	IGFBP3	7	45956889	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	6709744	45956889	113181774	135	112573											
HUS1	3364	broad.mit.edu	37	chr7	48018032	48018032	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagctccacggagaccgtGaggcagggaaagtgtttatt	13	9	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:48018032G>A	uc003tod.1	-	3	469	c.339C>T	c.(337-339)CTC>CTT	p.L113L	HUS1_uc003toe.1_Silent_p.L113L|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	113					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				CGGAGACCGTGAGGCAGGGAA	0.448								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					A	48018032	G	A	48018032	2	1	212	1	0	0	0	0	0	0	0	1	7459	1277	45	4		4	HUS1	7	48018032	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2061143	48018032	111120631	136	112574											
PSPH	5723	broad.mit.edu	37	chr7	56087373	56087373	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagggctggatgagggctaaGcgctctgtgagagcagcttt	17	7	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:56087373G>C	uc003trg.2	-	4	558	c.195C>G	c.(193-195)CGC>CGG	p.R65R	PSPH_uc003trh.2_Silent_p.R65R|PSPH_uc003tri.2_Silent_p.R65R|PSPH_uc003trj.2_Silent_p.R94R	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	65		Substrate.		R->A,K: Loss of activity.	L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGGGCTAAGCGCTCTGTGA	0.632													C	56087373	G	C	56087373	2	2	212	1	0	0	0	0	0	0	0	1	12717	958	34	5		5	PSPH	7	56087373	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	8069341	56087373	103051290	137	112575											
ZNF273	10793	broad.mit.edu	37	chr7	64388278	64388278	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaagtccttcataaattctCaaattcaaatatacataaga	2	7	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:64388278C>G	uc003tto.2	+	4	648	c.572C>G	c.(571-573)TCA>TGA	p.S191*	ZNF273_uc003ttl.2_Nonsense_Mutation_p.S126*|ZNF273_uc003ttn.2_Nonsense_Mutation_p.S126*	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAATTCTCAAATTCAAAT	0.308													G	64388278	C	G	64388278	4	3	212	1	0	0	0	0	0	1	0	0	17805	838	29	5	586	5	ZNF273	7	64388278	Nonsense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	8300905	64388278	94750385	138	112576											
SEMA3A	10371	broad.mit.edu	37	chr7	83631275	83631275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaagcagcactcacccgaAaaactgtcatttcttccagc	5	13	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:83631275A>C	uc003uhz.2	-	12	1763	c.1448T>G	c.(1447-1449)TTT>TGT	p.F483C		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	483	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ACTCACCCGAAAAACTGTCAT	0.418													C	83631275	A	C	83631275	3	2	212	1	0	0	0	0	1	0	0	0	14024	14	1	5	891	5	SEMA3A	7	83631275	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	19242997	83631275	75507388	139	112577											
GRM3	2913	broad.mit.edu	37	chr7	86468386	86468386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccccaatgaaatgaAgaatatgcaaccaggggatg	11	9	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:86468386A>C	uc003uid.2	+	4	2655	c.1556A>C	c.(1555-1557)AAG>ACG	p.K519T	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.K391T|GRM3_uc010leh.2_Missense_Mutation_p.K111T	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	519	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AATGAAATGAAGAATATGCAA	0.522													C	86468386	A	C	86468386	3	2	212	1	0	0	0	0	1	0	0	0	6798	72	3	5	1566	5	GRM3	7	86468386	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2837111	86468386	72670277	140	112578											
KIAA1324L	222223	broad.mit.edu	37	chr7	86539263	86539263	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgaccctgccactaTttcttttactgtaaagtctg	5	11	4	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:86539263T>G	uc011kha.1	-	16	2409	c.2224A>C	c.(2224-2226)ATA>CTA	p.I742L	KIAA1324L_uc003uif.1_Missense_Mutation_p.I502L|KIAA1324L_uc011kgz.1_Missense_Mutation_p.I628L|KIAA1324L_uc003uie.2_Missense_Mutation_p.I575L	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	742	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)					CCTGCCACTATTTCTTTTACT	0.378													G	86539263	T	G	86539263	3	3	212	1	0	0	0	0	1	0	0	0	8224	1493	52	5	893	5	KIAA1324L	7	86539263	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	70877	86539263	72599400	141	112579											
CDK14	5218	broad.mit.edu	37	chr7	90675256	90675256	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatggcctggagttcattcTttaccacattttaagccagg	8	10	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:90675256T>A	uc003uky.2	+	11	1308	c.1086T>A	c.(1084-1086)TCT>TCA	p.S362S	CDK14_uc003ukz.1_Silent_p.S344S|CDK14_uc010les.1_Silent_p.S316S|CDK14_uc011khl.1_Silent_p.S233S	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	362	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			lung(3)|ovary(1)	4						GAGTTCATTCTTTACCACATT	0.383													A	90675256	T	A	90675256	2	1	212	1	0	0	0	0	0	0	0	1	3130	1596	56	5		5	CDK14	7	90675256	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4135993	90675256	68463407	142	112580											
DYNC1I1	1780	broad.mit.edu	37	chr7	95664938	95664938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttttggtaggagagcaTggagctggtgtacaataagt	15	4	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:95664938T>C	uc003uoc.3	+	13	1566	c.1289T>C	c.(1288-1290)ATG>ACG	p.M430T	DYNC1I1_uc003uod.3_Missense_Mutation_p.M413T|DYNC1I1_uc003uob.2_Missense_Mutation_p.M393T|DYNC1I1_uc003uoe.3_Missense_Mutation_p.M410T|DYNC1I1_uc010lfl.2_Missense_Mutation_p.M419T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	430					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	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)			TAGGAGAGCATGGAGCTGGTG	0.468													C	95664938	T	C	95664938	3	2	212	1	0	0	0	0	1	0	0	0	4842	1464	51	3	1335	3	DYNC1I1	7	95664938	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4989682	95664938	63473725	143	112581											
ACHE	43	broad.mit.edu	37	chr7	100490117	100490117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggagagcgtggaagcaCggtgttcaaagacgtaggcg	17	8	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:100490117C>T	uc003uxd.2	-	2	1547	c.1391G>A	c.(1390-1392)CGT>CAT	p.R464H	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.R464H|ACHE_uc003uxf.2_Missense_Mutation_p.R464H|ACHE_uc003uxg.2_Missense_Mutation_p.R464H|ACHE_uc003uxh.2_Missense_Mutation_p.R376H|ACHE_uc003uxi.2_Missense_Mutation_p.R464H	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	464					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGTGGAAGCACGGTGTTCAAA	0.647													T	100490117	C	T	100490117	3	4	212	1	0	0	0	0	1	0	0	0	141	536	19	1	600	1	ACHE	7	100490117	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4825179	100490117	58648546	144	112582											
RELN	5649	broad.mit.edu	37	chr7	103191603	103191603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgctggggtggtgctcGgtggagcataaagagctgac	18	7	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:103191603G>A	uc003vca.2	-	41	6373	c.6213C>T	c.(6211-6213)ACC>ACT	p.T2071T	RELN_uc010liz.2_Silent_p.T2071T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2071					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGGTGCTCGGTGGAGCATA	0.602													A	103191603	G	A	103191603	2	1	212	1	0	0	0	0	0	0	0	1	13220	1103	39	1		1	RELN	7	103191603	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2701486	103191603	55947060	145	112583											
RELN	5649	broad.mit.edu	37	chr7	103338447	103338447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacttcacctacacgaagAttttcctgcttccactgaaa	4	13	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:103338447A>G	uc003vca.2	-	10	1156	c.996T>C	c.(994-996)AAT>AAC	p.N332N	RELN_uc010liz.2_Silent_p.N332N	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	332					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTACACGAAGATTTTCCTGCT	0.463													G	103338447	A	G	103338447	2	3	212	1	0	0	0	0	0	0	0	1	13220	330	12	3		3	RELN	7	103338447	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	146844	103338447	55800216	146	112584											
PIK3CG	5294	broad.mit.edu	37	chr7	106545572	106545572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacatctgtgttaaggctTatctagcccttcgtcatcac	8	11	4	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:106545572T>C	uc003vdv.3	+	11	3134	c.3049T>C	c.(3049-3051)TAT>CAT	p.Y1017H	PIK3CG_uc003vdu.2_Missense_Mutation_p.Y1017H|PIK3CG_uc003vdw.2_Missense_Mutation_p.Y1017H	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	1017	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			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TGTTAAGGCTTATCTAGCCCT	0.398													C	106545572	T	C	106545572	3	2	212	1	0	0	0	0	1	0	0	0	11916	1754	61	3	3087	3	PIK3CG	7	106545572	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	3207125	106545572	52593091	147	112585											
COG5	10466	broad.mit.edu	37	chr7	106924093	106924093	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccgggggaaaaaccaagttGataggatcgaagagtcgaga	14	7	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:106924093G>C	uc003ved.2	-	13	2016	c.1491C>G	c.(1489-1491)ATC>ATG	p.I497M	COG5_uc003vec.2_Missense_Mutation_p.I497M|COG5_uc003vee.2_Missense_Mutation_p.I497M	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	497					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						AAACCAAGTTGATAGGATCGA	0.388													C	106924093	G	C	106924093	3	2	212	1	0	0	0	0	1	0	0	0	3661	1280	45	5	1135	5	COG5	7	106924093	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	378521	106924093	52214570	148	112586											
FOXP2	93986	broad.mit.edu	37	chr7	114303506	114303506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatattttttttttcagaAgtccaaccttagtaaaaaat	3	5	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:114303506A>C	uc003vhb.2	+	15	2145	c.1771A>C	c.(1771-1773)AGT>CGT	p.S591R	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.S616R|FOXP2_uc003vha.2_Missense_Mutation_p.S499R|FOXP2_uc011kmu.1_Missense_Mutation_p.S608R|FOXP2_uc011kmv.1_Missense_Mutation_p.S590R|FOXP2_uc010ljz.1_Missense_Mutation_p.S406R|FOXP2_uc003vhe.1_Missense_Mutation_p.S161R	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	591	Fork-head.				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			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TTTTTTCAGAAGTCCAACCTT	0.333													C	114303506	A	C	114303506	3	2	212	1	0	0	0	0	1	0	0	0	6027	86	3	5	1992	5	FOXP2	7	114303506	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	7379413	114303506	44835157	149	112587											
LMOD2	442721	broad.mit.edu	37	chr7	123302861	123302861	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaaactccccaaaaaagtCcagactgtgaggagccgtcc	8	14	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:123302861C>T	uc003vky.2	+	2	1378	c.1221C>T	c.(1219-1221)GTC>GTT	p.V407V		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	407	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding				0						CCAAAAAAGTCCAGACTGTGA	0.363													T	123302861	C	T	123302861	2	4	212	1	0	0	0	0	0	0	0	1	8857	842	30	4		4	LMOD2	7	123302861	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	8999355	123302861	35835802	150	112588											
SLC37A3	84255	broad.mit.edu	37	chr7	140082276	140082276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactacaacatgatgatgGctgaactgggacagcagaga	11	8	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr7:140082276G>A	uc003vvo.2	-	2	217	c.51C>T	c.(49-51)AGC>AGT	p.S17S	SLC37A3_uc003vvp.2_Silent_p.S17S|SLC37A3_uc010lnh.2_Silent_p.S17S|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_Silent_p.S17S|SLC37A3_uc011krb.1_Silent_p.S17S	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	17	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					CATGATGATGGCTGAACTGGG	0.443													A	140082276	G	A	140082276	2	1	212	1	0	0	0	0	0	0	0	1	14599	1194	42	2		2	SLC37A3	7	140082276	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	16779415	140082276	19056387	151	112589											
SLC7A2	6542	broad.mit.edu	37	chr8	17409284	17409284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccttaggtgaagaagttCggaatccccagaaagctatt	9	8	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:17409284C>T	uc011kyc.1	+	6	1013	c.844C>T	c.(844-846)CGG>TGG	p.R282W	SLC7A2_uc011kyd.1_Missense_Mutation_p.R322W|SLC7A2_uc011kye.1_Missense_Mutation_p.R322W|SLC7A2_uc011kyf.1_Missense_Mutation_p.R282W	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	282	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAAGAAGTTCGGAATCCCCA	0.368													T	17409284	C	T	17409284	3	4	212	1	0	0	0	0	1	0	0	0	14697	875	31	1	986	1	SLC7A2	8	17409284	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08		17409284	128954738	152	112590											
LZTS1	11178	broad.mit.edu	37	chr8	20112401	20112401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtgtggacgggtcaaAgtccaccccagcctggcccc	16	14	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:20112401A>C	uc003wzr.2	-	1	403	c.292T>G	c.(292-294)TTT>GTT	p.F98V	LZTS1_uc010ltg.1_Missense_Mutation_p.F98V	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	98					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GACGGGTCAAAGTCCACCCCA	0.592													C	20112401	A	C	20112401	3	2	212	1	0	0	0	0	1	0	0	0	9138	72	3	5	1510	5	LZTS1	8	20112401	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2703117	20112401	126251621	153	112591											
PDLIM2	64236	broad.mit.edu	37	chr8	22442530	22442530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcactctctccacagGgctccgtgaggacatacact	8	15	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:22442530G>A	uc003xby.2	+	5	716	c.316G>A	c.(316-318)GGC>AGC	p.G106S	PDLIM2_uc003xbx.1_Missense_Mutation_p.G106S|PDLIM2_uc003xbz.2_Missense_Mutation_p.G106S|PDLIM2_uc003xca.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcb.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcc.1_Missense_Mutation_p.G106S	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	106						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		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)		CTCTCCACAGGGCTCCGTGAG	0.637													A	22442530	G	A	22442530	3	1	212	1	0	0	0	0	1	0	0	0	11680	1246	43	4	330	4	PDLIM2	8	22442530	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2330129	22442530	123921492	154	112592											
FBXO16	157574	broad.mit.edu	37	chr8	28309947	28309947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctctggagaattgcttGtaactagttgaacgtcagcg	10	8	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:28309947G>A	uc003xgu.2	-	6	652	c.554C>T	c.(553-555)ACA>ATA	p.T185I	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.T172I|FBXO16_uc003xgw.2_Missense_Mutation_p.T172I	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	185										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AGAATTGCTTGTAACTAGTTG	0.378													A	28309947	G	A	28309947	3	1	212	1	0	0	0	0	1	0	0	0	5729	1377	48	4	340	4	FBXO16	8	28309947	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	5867417	28309947	118054075	155	112593											
FUT10	84750	broad.mit.edu	37	chr8	33246606	33246606	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagagctgtcagaagtcGctggttagagatctcaccct	11	11	2	3	rs139904591	by1000genomes	TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:33246606G>A	uc003xje.2	-	4	1443	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*	FUT10_uc003xjc.2_Nonsense_Mutation_p.R370*|FUT10_uc003xjd.2_Nonsense_Mutation_p.R335*|FUT10_uc011lbi.1_Nonsense_Mutation_p.R413*|FUT10_uc003xjf.2_Nonsense_Mutation_p.R301*|FUT10_uc003xjg.2_Nonsense_Mutation_p.R335*|FUT10_uc003xjh.2_Nonsense_Mutation_p.R363*	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	363	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTCAGAAGTCGCTGGTTAGAG	0.493													A	33246606	G	A	33246606	4	1	212	1	0	0	0	0	0	1	0	0	6102	1095	38	1	360	1	FUT10	8	33246606	Nonsense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	4936659	33246606	113117416	156	112594											
GOT1L1	137362	broad.mit.edu	37	chr8	37791994	37791994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctgaccaggtattcCacctgctgggctaaaatcat	7	12	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:37791994C>T	uc011lbj.1	-	9	1183	c.1083G>A	c.(1081-1083)GTG>GTA	p.V361V		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	361					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCAGGTATTCCACCTGCTGGG	0.418													T	37791994	C	T	37791994	2	4	212	1	0	0	0	0	0	0	0	1	6580	581	21	4		4	GOT1L1	8	37791994	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4545388	37791994	108572028	157	112595											
FAM110B	90362	broad.mit.edu	37	chr8	59059700	59059700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggctaattctgacataaTatccctcaacttccgcagcg	7	12	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:59059700T>C	uc003xtj.1	+	5	1791	c.911T>C	c.(910-912)ATA>ACA	p.I304T		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	304						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCTGACATAATATCCCTCAAC	0.498													C	59059700	T	C	59059700	3	2	212	1	0	0	0	0	1	0	0	0	5397	1406	49	3	913	3	FAM110B	8	59059700	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	21267706	59059700	87304322	158	112596											
CNBD1	168975	broad.mit.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	4	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:88365898T>C	uc003ydy.2	+	10	1235	c.1187T>C	c.(1186-1188)CTT>CCT	p.L396P		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323													C	88365898	T	C	88365898	3	2	212	1	0	0	0	0	1	0	0	0	3591	1609	56	3	1225	3	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	29306198	88365898	57998124	159	112597											
MMP16	4325	broad.mit.edu	37	chr8	89058904	89058904	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatgttgcataccattttcTttgtgtacaaatgctccctg	6	10	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:89058904T>A	uc003yeb.3	-	9	1764	c.1482A>T	c.(1480-1482)AAA>AAT	p.K494N		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	494	Hemopexin-like 4.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TACCATTTTCTTTGTGTACAA	0.393													A	89058904	T	A	89058904	3	1	212	1	0	0	0	0	1	0	0	0	9655	1606	56	5	349	5	MMP16	8	89058904	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	693006	89058904	57305118	160	112598											
C8orf47	203111	broad.mit.edu	37	chr8	99101943	99101943	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atctccagaaatattggaagGaagtcagtttgtggaaacag	11	5	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:99101943G>C	uc003yih.1	+	2	846	c.698G>C	c.(697-699)GGA>GCA	p.G233A		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	233	Glu-rich.										0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ATATTGGAAGGAAGTCAGTTT	0.468													C	99101943	G	C	99101943	3	2	212	1	0	0	0	0	1	0	0	0	2432	1174	41	5	704	5	C8orf47	8	99101943	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	10043039	99101943	47262079	161	112599											
SPAG1	6674	broad.mit.edu	37	chr8	101252743	101252743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagaagaccctgagaaacTtccgatagccaagcctaata	7	12	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:101252743T>G	uc003yjh.1	+	18	2479	c.2393T>G	c.(2392-2394)CTT>CGT	p.L798R	SPAG1_uc003yji.1_Missense_Mutation_p.L798R	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	798					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	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)		CCTGAGAAACTTCCGATAGCC	0.488													G	101252743	T	G	101252743	3	3	212	1	0	0	0	0	1	0	0	0	14975	1609	56	5	2459	5	SPAG1	8	101252743	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2150800	101252743	45111279	162	112600											
TM7SF4	81501	broad.mit.edu	37	chr8	105361735	105361735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtagattatctgctgtatCggctcattttctcagtgagc	9	9	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:105361735C>T	uc003ylx.1	+	2	1004	c.955C>T	c.(955-957)CGG>TGG	p.R319W		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	319					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGCTGTATCGGCTCATTTT	0.473													T	105361735	C	T	105361735	3	4	212	1	0	0	0	0	1	0	0	0	15973	875	31	1	957	1	TM7SF4	8	105361735	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4108992	105361735	41002287	163	112601											
PTK2	5747	broad.mit.edu	37	chr8	141745365	141745365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgagctgagctttaAgttcagtaaacctgggccgc	10	12	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:141745365A>G	uc003yvu.2	-	22	2245	c.2015T>C	c.(2014-2016)CTT>CCT	p.L672P	PTK2_uc003yvo.2_Missense_Mutation_p.L300P|PTK2_uc011ljq.1_Missense_Mutation_p.L367P|PTK2_uc003yvp.2_Missense_Mutation_p.L340P|PTK2_uc003yvq.2_Missense_Mutation_p.L198P|PTK2_uc003yvr.2_Missense_Mutation_p.L612P|PTK2_uc003yvs.2_Missense_Mutation_p.L672P|PTK2_uc003yvt.2_Missense_Mutation_p.L694P|PTK2_uc003yvv.2_Missense_Mutation_p.L572P|PTK2_uc011ljr.1_Missense_Mutation_p.L672P|MIR151_hsa-mir-151|MI0000809_5'Flank	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	672	Protein kinase.				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			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	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)			CTGAGCTTTAAGTTCAGTAAA	0.522													G	141745365	A	G	141745365	3	3	212	1	0	0	0	0	1	0	0	0	12762	72	3	3	1187	3	PTK2	8	141745365	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	36383630	141745365	4618657	164	112602											
PPP1R16A	84988	broad.mit.edu	37	chr8	145725526	145725526	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgacgggaacatgccctatgAcctgtgtgatgatgagcaga	13	9	0	5			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr8:145725526A>T	uc003zdd.2	+	5	1437	c.524A>T	c.(523-525)GAC>GTC	p.D175V	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.D175V|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	175						plasma membrane	protein binding				0	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)			ATGCCCTATGACCTGTGTGAT	0.672													T	145725526	A	T	145725526	3	4	212	1	0	0	0	0	1	0	0	0	12365	275	10	5	538	5	PPP1R16A	8	145725526	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	3980161	145725526	638496	165	112603											
AK3	50808	broad.mit.edu	37	chr9	4719266	4719266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtcgatctgataagCtctatctagggcttctgcct	9	11	4	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:4719266C>A	uc003ziq.1	-	3	453	c.313G>T	c.(313-315)GCT>TCT	p.A105S	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.A65S|AK3_uc003zir.1_Missense_Mutation_p.A35S	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	105					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		ATCTGATAAGCTCTATCTAGG	0.398													A	4719266	C	A	4719266	3	1	212	1	0	0	0	0	1	0	0	0	441	797	28	5	382	5	AK3	9	4719266	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08		4719266	136494165	166	112604											
RANBP6	26953	broad.mit.edu	37	chr9	6012492	6012492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggaagattggaattaTttggaccaattacaactggg	11	4	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:6012492T>C	uc003zjr.2	-	1	3127	c.3116A>G	c.(3115-3117)AAT>AGT	p.N1039S	RANBP6_uc011lmf.1_Missense_Mutation_p.N687S|RANBP6_uc003zjs.2_Missense_Mutation_p.N627S	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	1039					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTGGAATTATTTGGACCAAT	0.368													C	6012492	T	C	6012492	3	2	212	1	0	0	0	0	1	0	0	0	13031	1493	52	3	205	3	RANBP6	9	6012492	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1293226	6012492	135200939	167	112605											
MPDZ	8777	broad.mit.edu	37	chr9	13192277	13192277	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtgattttccccaagTaaagttatgccatttacctg	7	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:13192277T>A	uc010mia.1	-	14	1878	c.1821A>T	c.(1819-1821)TTA>TTT	p.L607F	MPDZ_uc010mhy.2_Missense_Mutation_p.L607F|MPDZ_uc010mhz.2_Missense_Mutation_p.L607F|MPDZ_uc011lmn.1_Missense_Mutation_p.L607F|MPDZ_uc003zlb.3_Missense_Mutation_p.L607F	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	607	PDZ 4.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTCCCCAAGTAAAGTTATGC	0.348													A	13192277	T	A	13192277	3	1	212	1	0	0	0	0	1	0	0	0	9722	1635	57	5	4432	5	MPDZ	9	13192277	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	7179785	13192277	128021154	168	112606											
CNTLN	54875	broad.mit.edu	37	chr9	17273831	17273831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaataaacagactgaacTtatccagaaggatatggata	9	5	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:17273831T>G	uc003zmz.2	+	6	976	c.950T>G	c.(949-951)CTT>CGT	p.L317R	CNTLN_uc003zmx.3_Missense_Mutation_p.L317R|CNTLN_uc003zmy.2_Missense_Mutation_p.L317R|CNTLN_uc010mio.2_5'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	317						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGACTGAACTTATCCAGAAG	0.303													G	17273831	T	G	17273831	3	3	212	1	0	0	0	0	1	0	0	0	3639	1609	56	5	972	5	CNTLN	9	17273831	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4081554	17273831	123939600	169	112607											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18795443	18795443	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatcttggcaccagtggaAgcagatgtgggtttctacac	12	9	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:18795443A>C	uc003zne.3	+	20	3853	c.3726A>C	c.(3724-3726)GAA>GAC	p.E1242D		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1242	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CACCAGTGGAAGCAGATGTGG	0.463													C	18795443	A	C	18795443	3	2	212	1	0	0	0	0	1	0	0	0	274	69	3	5	3808	5	ADAMTSL1	9	18795443	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	1521612	18795443	122417988	170	112608											
FLJ46321	389763	broad.mit.edu	37	chr9	84610036	84610036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctaaaagccctgtgTttagtgatgtgcctttccta	9	10	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:84610036T>G	uc004amn.2	+	4	4698	c.4651T>G	c.(4651-4653)TTT>GTT	p.F1551V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1551						integral to membrane					0						AAGCCCTGTGTTTAGTGATGT	0.507													G	84610036	T	G	84610036	3	3	212	1	0	0	0	0	1	0	0	0	5932	1725	60	5	4665	5	FLJ46321	9	84610036	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	65814593	84610036	56603395	171	112609											
KIF27	55582	broad.mit.edu	37	chr9	86518567	86518567	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catccctatatggaatatgtGaactcttcctgcgtgggtcc	9	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:86518567G>A	uc004ana.2	-	4	1010	c.866C>T	c.(865-867)TCA>TTA	p.S289L	KIF27_uc010mpw.2_Missense_Mutation_p.S289L|KIF27_uc010mpx.2_Missense_Mutation_p.S289L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	289					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TGGAATATGTGAACTCTTCCT	0.453													A	86518567	G	A	86518567	3	1	212	1	0	0	0	0	1	0	0	0	8296	1294	45	4	3399	4	KIF27	9	86518567	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	1908531	86518567	54694864	172	112610											
CTSL1	1514	broad.mit.edu	37	chr9	90344590	90344590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaaggcagttgcaactGtggggcccatttctgttgct	13	8	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:90344590G>A	uc004aph.2	+	6	1074	c.724G>A	c.(724-726)GTG>ATG	p.V242M	CTSL1_uc004api.2_Missense_Mutation_p.V242M|CTSL1_uc004apj.2_Missense_Mutation_p.V187M|CTSL1_uc010mqh.2_Missense_Mutation_p.V60M|CTSL1_uc004apk.2_Missense_Mutation_p.V242M|CTSL1_uc004apl.2_Missense_Mutation_p.V242M	NM_001912	NP_001903	P07711	CATL1_HUMAN	cathepsin L1 preproprotein	242					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			ovary(3)	3					Glucagon recombinant(DB00040)	AGTTGCAACTGTGGGGCCCAT	0.428													A	90344590	G	A	90344590	3	1	212	1	0	0	0	0	1	0	0	0	4038	1377	48	4	742	4	CTSL1	9	90344590	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	3826023	90344590	50868841	173	112611											
CYLC2	1539	broad.mit.edu	37	chr9	105767737	105767737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtaagaaagataagaAgaagcccagtagtacagaca	10	5	0	5			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:105767737A>C	uc004bbs.2	+	5	894	c.824A>C	c.(823-825)AAG>ACG	p.K275T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	275	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				AAAGATAAGAAGAAGCCCAGT	0.259													C	105767737	A	C	105767737	3	2	212	1	0	0	0	0	1	0	0	0	4142	72	3	5	842	5	CYLC2	9	105767737	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	15423147	105767737	35445694	174	112612											
C9orf84	158401	broad.mit.edu	37	chr9	114454528	114454529	+	Frame_Shift_Ins	INS	-	-	A													tgtatgaagtcacaggtggtINSaaaaaacttgagatttcttt							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:114454528_114454529insA	uc004bfr.2	-	25	3671_3672	c.3536_3537insT	c.(3535-3537)TTAfs	p.L1179fs	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Frame_Shift_Ins_p.L1140fs|C9orf84_uc010mug.2_Frame_Shift_Ins_p.L1090fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1179										ovary(2)	2						TCACAGGTGGTAAAAAACTTGA	0.351													A	114454529	-	A	114454528	7	5	212	1	0	1	1	0	0	0	0	0	2500	1635	57	0	805	0	C9orf84	9	114454528	Frame_Shift_Ins	INS	-	TCGA-D7-6528-01A-11D-1800-08	8686791	114454528	26758903	175	112613	533	2									
C9orf84	158401	broad.mit.edu	37	chr9	114454529	114454530	+	Frame_Shift_Ins	INS	-	-	A													gtatgaagtcacaggtggtaINSaaaaacttgagatttctttt							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:114454528_114454529T>TA	uc004bfr.3	-	24	3671_3672	c.3536_3537A>TA	c.(3535-3537)ttafs	p.L1179fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Ins_p.L1140fs|C9orf84_uc010mug.3_Frame_Shift_Ins_p.L1090fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1179										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						TCACAGGTGGTAAAAAACTTGA	0.351													A	114454530	-	A	114454529	7	5	212	1	0	1	1	0	0	0	0	0	2500	372	13	0	806	0	C9orf84	9	114454529	Frame_Shift_Ins	INS	-	TCGA-D7-6528-01A-11D-1800-08	1	114454529	26758902	176	112614	533	2									
COL5A1	1289	broad.mit.edu	37	chr9	137622253	137622253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggaggagaaccccgacCagcccacagacccaggcgct	14	15	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:137622253C>T	uc004cfe.2	+	7	1478	c.1096C>T	c.(1096-1098)CAG>TAG	p.Q366*		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	366	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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GAACCCCGACCAGCCCACAGA	0.592													T	137622253	C	T	137622253	4	4	212	1	0	0	0	0	0	1	0	0	3696	595	21	4	1122	4	COL5A1	9	137622253	Nonsense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	23167724	137622253	3591178	177	112615											
GLT6D1	360203	broad.mit.edu	37	chr9	138515964	138515964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggtgggtttattgaggtaAaaatatttgttaaggtgctt	12	1	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:138515964A>C	uc010nbd.1	-	5	1064	c.810T>G	c.(808-810)TTT>TTG	p.F270L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	270	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TATTGAGGTAAAAATATTTGT	0.368													C	138515964	A	C	138515964	3	2	212	1	0	0	0	0	1	0	0	0	6468	11	1	5	24	5	GLT6D1	9	138515964	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	893711	138515964	2697467	178	112616											
CACNA1B	774	broad.mit.edu	37	chr9	141006876	141006876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcagcatcagtgtgacGcggagttgaggaaggagatt	15	6	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr9:141006876G>A	uc004cog.2	+	39	5600	c.5455G>A	c.(5455-5457)GCG>ACG	p.A1819T	CACNA1B_uc004coi.2_Missense_Mutation_p.A1031T|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Missense_Mutation_p.A99T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1819	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCAGTGTGACGCGGAGTTGAG	0.557													A	141006876	G	A	141006876	3	1	212	1	0	0	0	0	1	0	0	0	2539	1087	38	1	5609	1	CACNA1B	9	141006876	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2490912	141006876	206555	179	112617											
ITGA8	8516	broad.mit.edu	37	chr10	15650283	15650283	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatgcacatactcttaaAgaaaagctatagaaaatagt	6	6	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:15650283A>C	uc001ioc.1	-	16	1560	c.1560T>G	c.(1558-1560)TCT>TCG	p.S520S	ITGA8_uc010qcb.1_Silent_p.S505S	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	520	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						ATACTCTTAAAGAAAAGCTAT	0.308													C	15650283	A	C	15650283	2	2	212	1	0	0	0	0	0	0	0	1	7882	59	3	5		5	ITGA8	10	15650283	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08		15650283	119884464	180	112618											
VIM	7431	broad.mit.edu	37	chr10	17277380	17277380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagctgctggaaggcgaGgagagcaggtagggaactca	18	6	1	1	rs150986868		TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:17277380G>T	uc001iou.2	+	7	1634	c.1221G>T	c.(1219-1221)GAG>GAT	p.E407D	VIM_uc001iov.1_Missense_Mutation_p.E407D|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E407D|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E365D|VIM_uc001ipc.1_Missense_Mutation_p.E407D	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	407	Rod.|Coil 2.				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	p.E407K(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGGAAGGCGAGGAGAGCAGGT	0.368													T	17277380	G	T	17277380	3	4	212	1	0	0	0	0	1	0	0	0	17163	991	35	5	1243	5	VIM	10	17277380	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	1627097	17277380	118257367	181	112619											
LYZL1	84569	broad.mit.edu	37	chr10	29599960	29599960	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcagagacctgtccgAgtggaaaaaaggctgtgagg	17	6	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:29599960A>C	uc001iul.2	+	5	614	c.557A>C	c.(556-558)GAG>GCG	p.E186A		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	140					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)				GACCTGTCCGAGTGGAAAAAA	0.507													C	29599960	A	C	29599960	3	2	212	1	0	0	0	0	1	0	0	0	9131	304	11	5	575	5	LYZL1	10	29599960	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	12322580	29599960	105934787	182	112620											
ZEB1	6935	broad.mit.edu	37	chr10	31810825	31810825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggtcagccctgcagtccaAgaaccacccttgaaagtgat	9	13	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:31810825A>G	uc001ivs.3	+	7	2625	c.2562A>G	c.(2560-2562)CAA>CAG	p.Q854Q	ZEB1_uc001ivr.3_Silent_p.Q636Q|ZEB1_uc010qee.1_Silent_p.Q636Q|ZEB1_uc010qef.1_Silent_p.Q636Q|ZEB1_uc009xlj.1_Silent_p.Q780Q|ZEB1_uc010qeg.1_Silent_p.Q713Q|ZEB1_uc009xlk.1_Silent_p.Q636Q|ZEB1_uc001ivt.3_Silent_p.Q636Q|ZEB1_uc001ivu.3_Silent_p.Q855Q|ZEB1_uc001ivv.3_Silent_p.Q834Q|ZEB1_uc010qeh.1_Silent_p.Q787Q|ZEB1_uc009xlo.1_Silent_p.Q837Q|ZEB1_uc009xlp.2_Silent_p.Q838Q	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	854					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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CTGCAGTCCAAGAACCACCCT	0.438													G	31810825	A	G	31810825	2	3	212	1	0	0	0	0	0	0	0	1	17620	69	3	3		3	ZEB1	10	31810825	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2210865	31810825	103723922	183	112621											
LRRC18	474354	broad.mit.edu	37	chr10	50122031	50122031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgataagattccggctaAggtccagctcgtccatgtca	9	12	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:50122031A>C	uc001jhd.2	-	1	250	c.170T>G	c.(169-171)CTT>CGT	p.L57R	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.L57R	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	57	LRR 2.					cytoplasm				ovary(1)|pancreas(1)	2						ATTCCGGCTAAGGTCCAGCTC	0.507													C	50122031	A	C	50122031	3	2	212	1	0	0	0	0	1	0	0	0	8974	72	3	5	623	5	LRRC18	10	50122031	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	18311206	50122031	85412716	184	112622											
AGAP7	653268	broad.mit.edu	37	chr10	51465608	51465608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaccattggaacacaggGtgacgtatttctttttccat	8	10	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:51465608G>A	uc001jio.2	-	7	974	c.848C>T	c.(847-849)ACC>ATC	p.T283I	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	283	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GGAACACAGGGTGACGTATTT	0.428													A	51465608	G	A	51465608	3	1	212	1	0	0	0	0	1	0	0	0	373	1261	44	4	1147	4	AGAP7	10	51465608	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	1343577	51465608	84069139	185	112623											
DKK1	22943	broad.mit.edu	37	chr10	54074383	54074383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgcagtcagcgccgcGccgggaatcctgtacccggg	15	15	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:54074383G>A	uc001jjr.2	+	1	343	c.189G>A	c.(187-189)GCG>GCA	p.A63A	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	63					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TCAGCGCCGCGCCGGGAATCC	0.622											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54074383	G	A	54074383	2	1	212	1	0	0	0	0	0	0	0	1	4544	1074	38	1		1	DKK1	10	54074383	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2608775	54074383	81460364	186	112624											
FAM13C	220965	broad.mit.edu	37	chr10	61112135	61112135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacgctgtccaccagcacGgtcgcctctacattctgctg	8	15	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:61112135G>A	uc001jkn.2	-	4	353	c.219C>T	c.(217-219)ACC>ACT	p.T73T	FAM13C_uc001jko.2_Silent_p.T73T|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Silent_p.T95T|FAM13C_uc001jkp.2_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	73										ovary(2)	2						CCACCAGCACGGTCGCCTCTA	0.582													A	61112135	G	A	61112135	2	1	212	1	0	0	0	0	0	0	0	1	5454	1103	39	1		1	FAM13C	10	61112135	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7037752	61112135	74422612	187	112625											
UNC5B	219699	broad.mit.edu	37	chr10	73051239	73051239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgacctgacagccagcGccggcatctaccgcggaccc	10	19	1	2	rs141795100	byFrequency	TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:73051239G>A	uc001jro.2	+	10	1790	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	UNC5B_uc001jrp.2_Missense_Mutation_p.A438T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	449	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GACAGCCAGCGCCGGCATCTA	0.617													A	73051239	G	A	73051239	3	1	212	1	0	0	0	0	1	0	0	0	16989	1087	38	1	1383	1	UNC5B	10	73051239	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	11939104	73051239	62483508	188	112626											
TTC18	118491	broad.mit.edu	37	chr10	75056898	75056898	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatgatgttgtcttcaAgtatttatctctcacaatct	4	8	6	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:75056898A>T	uc009xrc.2	-	16	1877	c.1756T>A	c.(1756-1758)TTG>ATG	p.L586M	TTC18_uc001jty.2_Missense_Mutation_p.L586M|TTC18_uc009xrd.1_Missense_Mutation_p.L400M|TTC18_uc001jtx.2_Translation_Start_Site	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	586							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					GTTGTCTTCAAGTATTTATCT	0.438													T	75056898	A	T	75056898	3	4	212	1	0	0	0	0	1	0	0	0	16682	69	3	5	1661	5	TTC18	10	75056898	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2005659	75056898	60477849	189	112627											
ABCC2	1244	broad.mit.edu	37	chr10	101595995	101595995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttctgaaacacaatgagGtgaggattgacaccaaccag	10	8	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:101595995G>A	uc001kqf.2	+	25	3701	c.3562G>A	c.(3562-3564)GTG>ATG	p.V1188M		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1188	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		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)	ACACAATGAGGTGAGGATTGA	0.498													A	101595995	G	A	101595995	3	1	212	1	0	0	0	0	1	0	0	0	53	1261	44	4	3660	4	ABCC2	10	101595995	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	26539097	101595995	33938752	190	112628											
LDB1	8861	broad.mit.edu	37	chr10	103870449	103870449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagcgtgggatcagggtcCggccaatggctgtagagatg	17	7	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:103870449C>T	uc009xwz.2	-	6	705	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	LDB1_uc001kuk.3_Missense_Mutation_p.R85Q|LDB1_uc001kul.3_Missense_Mutation_p.R85Q	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	121					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			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GATCAGGGTCCGGCCAATGGC	0.552													T	103870449	C	T	103870449	3	4	212	1	0	0	0	0	1	0	0	0	8695	652	23	1	897	1	LDB1	10	103870449	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	2274454	103870449	31664298	191	112629											
FAM45A	404636	broad.mit.edu	37	chr10	120896041	120896041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaccgttttcagaagtttCggctgatggagaaaagagag	13	6	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:120896041C>T	uc001ldw.2	+	9	1000	c.956C>T	c.(955-957)TCG>TTG	p.S319L	FAM45A_uc010qsv.1_Missense_Mutation_p.S311L|FAM45A_uc010qsw.1_Missense_Mutation_p.S168L|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.S246L|FAM45A_uc010qsz.1_Missense_Mutation_p.S208L	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	hypothetical protein LOC404636	319										ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCAGAAGTTTCGGCTGATGGA	0.388													T	120896041	C	T	120896041	3	4	212	1	0	0	0	0	1	0	0	0	5564	893	31	1	990	1	FAM45A	10	120896041	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	17025592	120896041	14638706	192	112630											
LHPP	64077	broad.mit.edu	37	chr10	126301905	126301905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcagaggcagtggacctGctgctgcagcacgccgacaa	13	14	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:126301905G>A	uc001lhs.1	+	7	809	c.789G>A	c.(787-789)CTG>CTA	p.L263L	LHPP_uc001lht.1_3'UTR|LHPP_uc009yai.1_Silent_p.L180L|LHPP_uc009yaj.1_RNA	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	263					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		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;0.163)|Colorectal(40;0.187)		CAGTGGACCTGCTGCTGCAGC	0.438													A	126301905	G	A	126301905	2	1	212	1	0	0	0	0	0	0	0	1	8769	1306	46	2		2	LHPP	10	126301905	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	5405864	126301905	9232842	193	112631											
SYCE1	93426	broad.mit.edu	37	chr10	135372434	135372434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtccgggcctctcctaggTctttattggctttctttttt	9	10	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr10:135372434T>C	uc001lno.2	-	4	323	c.218A>G	c.(217-219)GAC>GGC	p.D73G	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Missense_Mutation_p.D73G|SYCE1_uc001lnn.2_Missense_Mutation_p.D37G	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	73	Potential.				cell division	central element				ovary(1)	1		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)		CTCTCCTAGGTCTTTATTGGC	0.512													C	135372434	T	C	135372434	3	2	212	1	0	0	0	0	1	0	0	0	15425	1667	58	3	920	3	SYCE1	10	135372434	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	9070529	135372434	162313	194	112632											
OR51B2	79345	broad.mit.edu	37	chr11	5344612	5344612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actactaaacctatgtttagAtaaaaggcggataatgccat	7	7	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:5344612A>G	uc001mao.1	-	1	971	c.916T>C	c.(916-918)TCT>CCT	p.S306P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		CTATGTTTAGATAAAAGGCGG	0.363													G	5344612	A	G	5344612	3	3	212	1	0	0	0	0	1	0	0	0	11089	333	12	3	26	3	OR51B2	11	5344612	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08		5344612	129661904	195	112633											
OR56B1	387748	broad.mit.edu	37	chr11	5757774	5757774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgtctgcatctctcaaaAtctccaatagctccaaattc	3	12	4	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:5757774A>G	uc001mbt.1	+	1	28	c.28A>G	c.(28-30)ATC>GTC	p.I10V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.I10V|OR56B1_uc009yev.1_Missense_Mutation_p.I10V	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		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)		ATCTCTCAAAATCTCCAATAG	0.433													G	5757774	A	G	5757774	3	3	212	1	0	0	0	0	1	0	0	0	11137	101	4	3	30	3	OR56B1	11	5757774	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	413162	5757774	129248742	196	112634											
OR52N1	79473	broad.mit.edu	37	chr11	5809861	5809861	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaagggcaaggaagacAtacataggtctgtgtaaggc	14	5	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:5809861A>T	uc010qzo.1	-	1	186	c.186T>A	c.(184-186)TAT>TAA	p.Y62*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		CAAGGAAGACATACATAGGTC	0.453													T	5809861	A	T	5809861	4	4	212	1	0	0	0	0	0	1	0	0	11127	224	8	5	779	5	OR52N1	11	5809861	Nonsense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	52087	5809861	129196655	197	112635											
APBB1	322	broad.mit.edu	37	chr11	6416828	6416828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgactgaacacccctgCggacagtccaccctacacgc	8	18	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:6416828C>T	uc001mdb.1	-	14	2169	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	APBB1_uc001mcz.1_Missense_Mutation_p.R309H|APBB1_uc001mdd.3_Missense_Mutation_p.R468H|APBB1_uc001mda.2_Missense_Mutation_p.R215H|APBB1_uc001mdc.1_Missense_Mutation_p.R688H|APBB1_uc001mcy.1_3'UTR	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	690	PID 2.				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(2)	2		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)		AACACCCCTGCGGACAGTCCA	0.652													T	6416828	C	T	6416828	3	4	212	1	0	0	0	0	1	0	0	0	759	768	27	1	67	1	APBB1	11	6416828	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	606967	6416828	128589688	198	112636											
NLRP14	338323	broad.mit.edu	37	chr11	7060049	7060049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggagtgtgtctctcaaaAtctttggcaagatgaacctg	10	9	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:7060049A>C	uc001mfb.1	+	2	555	c.232A>C	c.(232-234)ATC>CTC	p.I78L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	78	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCTCAAAATCTTTGGCAA	0.493													C	7060049	A	C	7060049	3	2	212	1	0	0	0	0	1	0	0	0	10476	101	4	5	234	5	NLRP14	11	7060049	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	643221	7060049	127946467	199	112637											
GALNTL4	374378	broad.mit.edu	37	chr11	11394149	11394149	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtactgccggtccacAatgaagcagccaatgagggc	13	10	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:11394149A>G	uc001mjo.2	-	6	1426	c.1005T>C	c.(1003-1005)ATT>ATC	p.I335I		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	335	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GCCGGTCCACAATGAAGCAGC	0.602													G	11394149	A	G	11394149	2	3	212	1	0	0	0	0	0	0	0	1	6223	126	5	3		3	GALNTL4	11	11394149	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	4334100	11394149	123612367	200	112638											
ANO5	203859	broad.mit.edu	37	chr11	22248854	22248854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttttaatgcaggactcgGaagatggaagaacttatttt	9	4	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:22248854G>A	uc001mqi.2	+	7	687	c.370G>A	c.(370-372)GAA>AAA	p.E124K	ANO5_uc001mqj.2_Missense_Mutation_p.E123K	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	124	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						GCAGGACTCGGAAGATGGAAG	0.353													A	22248854	G	A	22248854	3	1	212	1	0	0	0	0	1	0	0	0	700	1175	41	4	396	4	ANO5	11	22248854	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	10854705	22248854	112757662	201	112639											
SLC17A6	57084	broad.mit.edu	37	chr11	22381048	22381048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatggatgtgtcatctttgTcagaatactgcagggacttg	11	6	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:22381048T>G	uc001mqk.2	+	4	961	c.548T>G	c.(547-549)GTC>GGC	p.V183G		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	183	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GTCATCTTTGTCAGAATACTG	0.408													G	22381048	T	G	22381048	3	3	212	1	0	0	0	0	1	0	0	0	14421	1667	58	5	562	5	SLC17A6	11	22381048	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	132194	22381048	112625468	202	112640											
GAS2	2620	broad.mit.edu	37	chr11	22833429	22833429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgaaacacgacccctgccGaatgctgcagatctcccgtg	10	14	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:22833429G>A	uc009yie.2	+	8	1115	c.809G>A	c.(808-810)CGA>CAA	p.R270Q	GAS2_uc001mqm.2_Missense_Mutation_p.R270Q|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.R270Q	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	270	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						GACCCCTGCCGAATGCTGCAG	0.463													A	22833429	G	A	22833429	3	1	212	1	0	0	0	0	1	0	0	0	6245	1058	37	1	835	1	GAS2	11	22833429	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	452381	22833429	112173087	203	112641											
ANO3	63982	broad.mit.edu	37	chr11	26620487	26620487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaacctgaaccacatcAgccttcctcagacaaagtca	7	13	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:26620487A>G	uc001mqt.3	+	16	1758	c.1613A>G	c.(1612-1614)CAG>CGG	p.Q538R	ANO3_uc010rdr.1_Missense_Mutation_p.Q522R|ANO3_uc010rds.1_Missense_Mutation_p.Q377R|ANO3_uc010rdt.1_Missense_Mutation_p.Q392R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	538	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAACCACATCAGCCTTCCTCA	0.403													G	26620487	A	G	26620487	3	3	212	1	0	0	0	0	1	0	0	0	698	188	7	3	1675	3	ANO3	11	26620487	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	3787058	26620487	108386029	204	112642											
OR4C13	283092	broad.mit.edu	37	chr11	49974148	49974148	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactgagatcccccatgtaCtttttcctggcctatctctc	5	15	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:49974148C>A	uc010rhz.1	+	1	174	c.174C>A	c.(172-174)TAC>TAA	p.Y58*		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CCCCCATGTACTTTTTCCTGG	0.423													A	49974148	C	A	49974148	4	1	212	1	0	0	0	0	0	1	0	0	11047	576	20	5	176	5	OR4C13	11	49974148	Nonsense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	23353661	49974148	85032368	205	112643											
OR4A5	81318	broad.mit.edu	37	chr11	51412114	51412114	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaatagctggcccatgcaAccttggaaggaaatagtctt	9	8	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:51412114A>C	uc001nhi.1	-	1	282	c.282T>G	c.(280-282)GGT>GGG	p.G94G		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				GGCCCATGCAACCTTGGAAGG	0.448													C	51412114	A	C	51412114	2	2	212	1	0	0	0	0	0	0	0	1	11043	30	2	5		5	OR4A5	11	51412114	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	1437966	51412114	83594402	206	112644											
OR5M8	219484	broad.mit.edu	37	chr11	56258219	56258219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggaaatacatatgatgaagaGagaaaaagaaaggttccagc	11	4	0	5			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:56258219G>C	uc001nix.1	-	1	628	c.628C>G	c.(628-630)CTC>GTC	p.L210V		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					ATGATGAAGAGAGAAAAAGAA	0.433													C	56258219	G	C	56258219	3	2	212	1	0	0	0	0	1	0	0	0	11176	942	33	5	311	5	OR5M8	11	56258219	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	4846105	56258219	78748297	207	112645											
APLNR	187	broad.mit.edu	37	chr11	57004241	57004241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcccacaggggcagcgtcaCcacgaaggtcaggtcagcca	13	14	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:57004241C>A	uc001njo.2	-	1	687	c.238G>T	c.(238-240)GTG>TTG	p.V80L	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	80	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						GGCAGCGTCACCACGAAGGTC	0.587													A	57004241	C	A	57004241	3	1	212	1	0	0	0	0	1	0	0	0	777	507	18	5	908	5	APLNR	11	57004241	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	746022	57004241	78002275	208	112646											
SYTL2	54843	broad.mit.edu	37	chr11	85445318	85445318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaaattctcctacttcccGaccatggattagcccaggac	6	14	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:85445318G>A	uc010rth.1	-	6	1327	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	SYTL2_uc010rtg.1_Missense_Mutation_p.R352W|SYTL2_uc010rti.1_Missense_Mutation_p.R351W|SYTL2_uc010rtj.1_Missense_Mutation_p.R303W|SYTL2_uc001pbf.3_Missense_Mutation_p.R351W|SYTL2_uc010rtf.1_Missense_Mutation_p.R209W	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	351					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			ovary(2)|large_intestine(1)	3		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)		CCTACTTCCCGACCATGGATT	0.458													A	85445318	G	A	85445318	3	1	212	1	0	0	0	0	1	0	0	0	15480	1057	37	1	4286	1	SYTL2	11	85445318	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	28441077	85445318	49561198	209	112647											
FAT3	120114	broad.mit.edu	37	chr11	92531644	92531644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagtcaacagcaaaaaAgtttttcacggtggactcca	10	8	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:92531644A>C	uc001pdj.3	+	9	5482	c.5465A>C	c.(5464-5466)AAG>ACG	p.K1822T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1822	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGCAAAAAAGTTTTTCACG	0.473										TCGA Ovarian(4;0.039)			C	92531644	A	C	92531644	3	2	212	1	0	0	0	0	1	0	0	0	5691	72	3	5	5499	5	FAT3	11	92531644	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	7086326	92531644	42474872	210	112648											
CASP1	834	broad.mit.edu	37	chr11	104900547	104900547	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccttcccgaataccatgaGacatgaacaccaggaacgtg	9	12	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:104900547G>A	uc010rve.1	-	6	724	c.707C>T	c.(706-708)TCT>TTT	p.S236F	CASP1_uc001pig.2_Missense_Mutation_p.S143F|CASP1_uc001pik.2_Missense_Mutation_p.S199F|CASP1_uc010rvf.1_Missense_Mutation_p.S143F|CASP1_uc010rvg.1_Missense_Mutation_p.S215F|CASP1_uc010rvh.1_Missense_Mutation_p.S143F|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.S236F|CASP1_uc009yxi.2_Missense_Mutation_p.S215F|CASP1_uc010rvj.1_Missense_Mutation_p.S236F|CASP1_uc009yxj.2_Missense_Mutation_p.S81F|CASP1_uc010rvk.1_Missense_Mutation_p.S197F	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	236					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AATACCATGAGACATGAACAC	0.463													A	104900547	G	A	104900547	3	1	212	1	0	0	0	0	1	0	0	0	2668	942	33	4	523	4	CASP1	11	104900547	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	12368903	104900547	30105969	211	112649											
KIAA1826	84437	broad.mit.edu	37	chr11	105881326	105881326	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcatctatctcttcagtgaGagagtcatccaaatcagagg	8	9	6	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:105881326G>C	uc001piy.2	-	2	492	c.319C>G	c.(319-321)CTC>GTC	p.L107V	KIAA1826_uc001piz.2_Missense_Mutation_p.L107V	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	107						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TCTTCAGTGAGAGAGTCATCC	0.443													C	105881326	G	C	105881326	3	2	212	1	0	0	0	0	1	0	0	0	8260	942	33	5	726	5	KIAA1826	11	105881326	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	980779	105881326	29125190	212	112650											
CUL5	8065	broad.mit.edu	37	chr11	107925631	107925631	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaattaaaagaagaagaaaaAcgagcactacgttatttaga	7	4	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:107925631A>T	uc001pjv.2	+	7	1396	c.729A>T	c.(727-729)AAA>AAT	p.K243N	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	243					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			ovary(1)	1		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)		AAGAAGAAAAACGAGCACTAC	0.313													T	107925631	A	T	107925631	3	4	212	1	0	0	0	0	1	0	0	0	4059	40	2	5	755	5	CUL5	11	107925631	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2044305	107925631	27080885	213	112651											
EXPH5	23086	broad.mit.edu	37	chr11	108380425	108380425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actactgggagaatttgagcTtaatgactctgaggggttgg	14	5	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:108380425T>C	uc001pkk.2	-	6	5920	c.5809A>G	c.(5809-5811)AGC>GGC	p.S1937G	EXPH5_uc010rvy.1_Missense_Mutation_p.S1749G|EXPH5_uc010rvz.1_Missense_Mutation_p.S1781G|EXPH5_uc010rwa.1_Missense_Mutation_p.S1861G	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1937					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		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)		GAATTTGAGCTTAATGACTCT	0.438													C	108380425	T	C	108380425	3	2	212	1	0	0	0	0	1	0	0	0	5322	1609	56	3	164	3	EXPH5	11	108380425	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	454794	108380425	26626091	214	112652											
ALG9	79796	broad.mit.edu	37	chr11	111724443	111724443	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgtttcatgaccagcaaatCaaaggcaatgggtaaactat	9	7	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:111724443C>T	uc001pmb.2	-	8	817	c.718G>A	c.(718-720)GAT>AAT	p.D240N	ALG9_uc001ply.2_Missense_Mutation_p.D69N|ALG9_uc001plz.2_Missense_Mutation_p.D69N|ALG9_uc010rwm.1_Missense_Mutation_p.D240N|ALG9_uc010rwn.1_Missense_Mutation_p.D194N|ALG9_uc010rwo.1_Missense_Mutation_p.D68N|ALG9_uc009yyh.1_Missense_Mutation_p.D135N	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	240	Cytoplasmic (Potential).				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			large_intestine(1)|ovary(1)	2		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)		ACCAGCAAATCAAAGGCAATG	0.398													T	111724443	C	T	111724443	3	4	212	1	0	0	0	0	1	0	0	0	524	826	29	4	1174	4	ALG9	11	111724443	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	3344018	111724443	23282073	215	112653											
CADM1	23705	broad.mit.edu	37	chr11	115109343	115109343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttcactgctagaaaaatTcagcaactgaaacctgctgt	8	9	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:115109343T>G	uc001ppi.3	-	3	430	c.301A>C	c.(301-303)AAT>CAT	p.N101H	CADM1_uc001ppf.3_Missense_Mutation_p.N101H|CADM1_uc001ppk.3_Missense_Mutation_p.N101H|CADM1_uc001ppj.3_Missense_Mutation_p.N101H|CADM1_uc001ppl.2_Missense_Mutation_p.N101H	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	101	Ig-like V-type.|Extracellular (Potential).				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			ovary(2)	2	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)		CTAGAAAAATTCAGCAACTGA	0.393													G	115109343	T	G	115109343	3	3	212	1	0	0	0	0	1	0	0	0	2566	1783	62	5	1059	5	CADM1	11	115109343	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	3384900	115109343	19897173	216	112654											
AMICA1	120425	broad.mit.edu	37	chr11	118083275	118083275	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattcaggcccaaggaataAtctatagaagtcaaaggcaa	8	8	4	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:118083275A>G	uc001psk.2	-	3	219	c.45T>C	c.(43-45)GAT>GAC	p.D15D	AMICA1_uc001psh.2_5'UTR|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Silent_p.D5D|AMICA1_uc001psj.2_Silent_p.D15D|AMICA1_uc010rxw.1_5'UTR|AMICA1_uc010rxx.1_Silent_p.D15D|AMICA1_uc001psl.1_Intron	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	15					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCAAGGAATAATCTATAGAAG	0.438													G	118083275	A	G	118083275	2	3	212	1	0	0	0	0	0	0	0	1	574	115	4	3		3	AMICA1	11	118083275	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2973932	118083275	16923241	217	112655											
MLL	4297	broad.mit.edu	37	chr11	118375019	118375019	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattccttggaagctcagctCagctcattggagtcaagccg	11	11	4	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:118375019C>T	uc001pta.2	+	27	8426	c.8403C>T	c.(8401-8403)CTC>CTT	p.L2801L	MLL_uc001ptb.2_Silent_p.L2804L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2801					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAGCTCAGCTCAGCTCATTGG	0.448			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118375019	C	T	118375019	2	4	212	1	0	0	0	0	0	0	0	1	9620	813	29	4		4	MLL	11	118375019	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	291744	118375019	16631497	218	112656											
POU2F3	25833	broad.mit.edu	37	chr11	120169080	120169080	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggaaaccaaatgtctgggcTaaatgccagcccatgtcagg	11	11	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:120169080T>A	uc001pxc.2	+	4	341	c.239T>A	c.(238-240)CTA>CAA	p.L80Q	POU2F3_uc010rzk.1_Silent_p.A18A|POU2F3_uc010rzl.1_Missense_Mutation_p.L10Q	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	80					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		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)		ATGTCTGGGCTAAATGCCAGC	0.527													A	120169080	T	A	120169080	3	1	212	1	0	0	0	0	1	0	0	0	12273	1522	53	5	253	5	POU2F3	11	120169080	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1794061	120169080	14837436	219	112657											
C11orf63	79864	broad.mit.edu	37	chr11	122817501	122817501	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaaaagaagcagcagtaagGtaataaaagcgccattttta	9	5	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:122817501G>C	uc001pym.2	+	6	2226	c.1929_splice	c.e6+1	p.K643_splice		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1											ovary(3)	3		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)		CAGCAGTAAGGTAATAAAAGC	0.378													C	122817501	G	C	122817501	5	2	212	1	0	0	0	0	0	0	1	0	1654	1275	44	5	2012	5	C11orf63	11	122817501	Splice_Site	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2648421	122817501	12189015	220	112658											
OR4D5	219875	broad.mit.edu	37	chr11	123811129	123811129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggacattccccatggacaAggccgtctctgtgctataca	9	13	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:123811129A>C	uc001pzk.1	+	1	806	c.806A>C	c.(805-807)AAG>ACG	p.K269T		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		CCCATGGACAAGGCCGTCTCT	0.498													C	123811129	A	C	123811129	3	2	212	1	0	0	0	0	1	0	0	0	11057	72	3	5	808	5	OR4D5	11	123811129	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	993628	123811129	11195387	221	112659											
OR8B2	26595	broad.mit.edu	37	chr11	124252930	124252930	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagatgacgaaaaagagaaAgaaaaacagccgagtcatgc	11	6	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:124252930A>C	uc010sai.1	-	1	310	c.310T>G	c.(310-312)TTT>GTT	p.F104V		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		AAAAAGAGAAAGAAAAACAGC	0.388													C	124252930	A	C	124252930	3	2	212	1	0	0	0	0	1	0	0	0	11227	72	3	5	634	5	OR8B2	11	124252930	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	441801	124252930	10753586	222	112660											
OR8B4	283162	broad.mit.edu	37	chr11	124294715	124294715	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctggagctctggctgttctGataatcccacaaggataaac	10	10	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr11:124294715G>C	uc010sak.1	-	1	53	c.53C>G	c.(52-54)TCA>TGA	p.S18*		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		TGGCTGTTCTGATAATCCCAC	0.478													C	124294715	G	C	124294715	4	2	212	1	0	0	0	0	0	1	0	0	11229	1294	45	5	878	5	OR8B4	11	124294715	Nonsense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	41785	124294715	10711801	223	112661											
B4GALNT3	283358	broad.mit.edu	37	chr12	657427	657427	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgaccctggagccaagttcAccatcattgactccctctcc	6	17	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:657427A>T	uc001qii.1	+	9	817	c.817A>T	c.(817-819)ACC>TCC	p.T273S	B4GALNT3_uc001qij.1_Missense_Mutation_p.T175S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	273	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	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)			AGCCAAGTTCACCATCATTGA	0.597													T	657427	A	T	657427	3	4	212	1	0	0	0	0	1	0	0	0	1268	159	6	5	851	5	B4GALNT3	12	657427	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08		657427	133194468	224	112662											
VWF	7450	broad.mit.edu	37	chr12	6080778	6080778	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacctacactcttccaggaaGactgggagtccccccgcggt	11	15	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:6080778G>T	uc001qnn.1	-	44	7785	c.7535C>A	c.(7534-7536)TCT>TAT	p.S2512Y	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2512					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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTTCCAGGAAGACTGGGAGTC	0.622													T	6080778	G	T	6080778	3	4	212	1	0	0	0	0	1	0	0	0	17243	942	33	5	942	5	VWF	12	6080778	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	5423351	6080778	127771117	225	112663											
C1S	716	broad.mit.edu	37	chr12	7177878	7177878	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgtgggacctatgggCtctacacacgggtaaagaac	12	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:7177878C>G	uc001qsj.2	+	15	2709	c.1990C>G	c.(1990-1992)CTC>GTC	p.L664V	C1S_uc001qsk.2_Missense_Mutation_p.L664V|C1S_uc001qsl.2_Missense_Mutation_p.L664V|C1S_uc009zfr.2_Missense_Mutation_p.L497V|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	664	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GACCTATGGGCTCTACACACG	0.537													G	7177878	C	G	7177878	3	3	212	1	0	0	0	0	1	0	0	0	1974	797	28	5	2032	5	C1S	12	7177878	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	1097100	7177878	126674017	226	112664											
AICDA	57379	broad.mit.edu	37	chr12	8758006	8758006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaggtgaaccaggtgaCgcggtagcagcggccagggt	18	10	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:8758006C>T	uc001qur.2	-	3	311	c.232G>A	c.(232-234)GTC>ATC	p.V78I	AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	78					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung SC(5;0.184)					AACCAGGTGACGCGGTAGCAG	0.617									Immune_Deficiency_with_Hyper-IgM				T	8758006	C	T	8758006	3	4	212	1	0	0	0	0	1	0	0	0	422	536	19	1	376	1	AICDA	12	8758006	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	1580128	8758006	125093889	227	112665											
A2M	2	broad.mit.edu	37	chr12	9254148	9254148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtagttcatgagacatGggctcaaggtggacaaagct	14	7	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:9254148G>A	uc001qvk.1	-	12	1502	c.1389C>T	c.(1387-1389)CCC>CCT	p.P463P	A2M_uc009zgk.1_Silent_p.P313P	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	463					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	CATGAGACATGGGCTCAAGGT	0.507													A	9254148	G	A	9254148	2	1	212	1	0	0	0	0	0	0	0	1	4	1335	47	4		4	A2M	12	9254148	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	496142	9254148	124597747	228	112666											
KLRF1	51348	broad.mit.edu	37	chr12	9994946	9994946	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacagaaaaacctaagacaAttaaactacgtatggattgg	7	6	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:9994946A>C	uc010sgw.1	+	6	565	c.501A>C	c.(499-501)CAA>CAC	p.Q167H	KLRF1_uc009zgw.2_Missense_Mutation_p.Q118H|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F,	168	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			large_intestine(1)	1						ACCTAAGACAATTAAACTACG	0.333													C	9994946	A	C	9994946	3	2	212	1	0	0	0	0	1	0	0	0	8420	98	4	5	522	5	KLRF1	12	9994946	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	740798	9994946	123856949	229	112667											
TAS2R7	50837	broad.mit.edu	37	chr12	10954529	10954529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtggcactgagctgcattCgcctgatatgtctccgcagg	12	12	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:10954529C>T	uc001qyv.2	-	1	698	c.641G>A	c.(640-642)CGA>CAA	p.R214Q		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	214	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						GAGCTGCATTCGCCTGATATG	0.512													T	10954529	C	T	10954529	3	4	212	1	0	0	0	0	1	0	0	0	15583	884	31	1	319	1	TAS2R7	12	10954529	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	959583	10954529	122897366	230	112668											
DDX47	51202	broad.mit.edu	37	chr12	12967079	12967079	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccaagggtgtgacagatgtGttgtgtgaagcttgtgacca	14	6	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:12967079G>C	uc001rav.2	+	5	700	c.102G>C	c.(100-102)GTG>GTC	p.V34V	DDX47_uc009zhw.1_Silent_p.V34V|DDX47_uc001rax.2_Silent_p.V34V|DDX47_uc001ray.2_Silent_p.V34V|DDX47_uc010shn.1_Silent_p.V34V	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	34	Q motif.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGACAGATGTGTTGTGTGAAG	0.453													C	12967079	G	C	12967079	2	2	212	1	0	0	0	0	0	0	0	1	4365	1364	48	5		5	DDX47	12	12967079	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2012550	12967079	120884816	231	112669											
C12orf69	440087	broad.mit.edu	37	chr12	14958991	14958991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaatggcatgattataTttttctgaggctgatttgaa	9	4	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:14958991T>G	uc001rck.1	-	2	697	c.624A>C	c.(622-624)AAA>AAC	p.K208N	WBP11_uc001rci.2_5'Flank|C12orf60_uc001rcj.3_Intron	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	hypothetical protein LOC440087	208						integral to membrane					0						CATGATTATATTTTTCTGAGG	0.408													G	14958991	T	G	14958991	3	3	212	1	0	0	0	0	1	0	0	0	1711	1490	52	5	57	5	C12orf69	12	14958991	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1991912	14958991	118892904	232	112670											
H1FNT	341567	broad.mit.edu	37	chr12	48723523	48723523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggaggaccccagccgCgccccggagctcccggaggc	14	19	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:48723523C>T	uc001rrm.2	+	1	761	c.449C>T	c.(448-450)GCG>GTG	p.A150V		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	150	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						ACCCCAGCCGCGCCCCGGAGC	0.701													T	48723523	C	T	48723523	3	4	212	1	0	0	0	0	1	0	0	0	6921	768	27	1	451	1	H1FNT	12	48723523	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	33764532	48723523	85128372	233	112671											
KRT5	3852	broad.mit.edu	37	chr12	52908759	52908759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccgggaggaggaggtGgtggagacaaatttgacgct	16	7	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:52908759G>A	uc001san.2	-	9	1903	c.1740C>T	c.(1738-1740)ACC>ACT	p.T580T		NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	580	Tail.|Ser-rich.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGGAGGTGGTGGAGACAA	0.607													A	52908759	G	A	52908759	2	1	212	1	0	0	0	0	0	0	0	1	8479	1335	47	4		4	KRT5	12	52908759	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	4185236	52908759	80943136	234	112672											
KRT78	196374	broad.mit.edu	37	chr12	53233611	53233611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatccagggaaagcttcGtgctcgtcagctcctggtac	10	14	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:53233611G>A	uc001sbc.1	-	7	1269	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	402	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						GGAAAGCTTCGTGCTCGTCAG	0.612													A	53233611	G	A	53233611	3	1	212	1	0	0	0	0	1	0	0	0	8491	1145	40	1	369	1	KRT78	12	53233611	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	324852	53233611	80618284	235	112673											
NCKAP1L	3071	broad.mit.edu	37	chr12	54914575	54914575	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccctgatttgtgctcacTttgtccactgcactcatgag	7	14	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:54914575T>G	uc001sgc.3	+	17	1802	c.1723T>G	c.(1723-1725)TTT>GTT	p.F575V	NCKAP1L_uc010sox.1_Missense_Mutation_p.F117V|NCKAP1L_uc010soy.1_Missense_Mutation_p.F525V	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	575					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			ovary(3)|central_nervous_system(1)	4						TTGTGCTCACTTTGTCCACTG	0.463													G	54914575	T	G	54914575	3	3	212	1	0	0	0	0	1	0	0	0	10222	1609	56	5	1789	5	NCKAP1L	12	54914575	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1680964	54914575	78937320	236	112674											
PTPRB	5787	broad.mit.edu	37	chr12	70965039	70965039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctcagtgctcctgttgCgcaatgttagatccttaaca	8	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:70965039C>T	uc001swb.3	-	11	2513	c.2483G>A	c.(2482-2484)CGC>CAC	p.R828H	PTPRB_uc010sto.1_Missense_Mutation_p.R828H|PTPRB_uc010stp.1_Missense_Mutation_p.R738H|PTPRB_uc001swc.3_Missense_Mutation_p.R1046H|PTPRB_uc001swa.3_Missense_Mutation_p.R958H|PTPRB_uc001swd.3_Missense_Mutation_p.R1045H|PTPRB_uc009zrr.1_Missense_Mutation_p.R925H	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	828	Fibronectin type-III 10.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			GCTCCTGTTGCGCAATGTTAG	0.413													T	70965039	C	T	70965039	3	4	212	1	0	0	0	0	1	0	0	0	12796	768	27	1	3598	1	PTPRB	12	70965039	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	16050464	70965039	62886856	237	112675											
NDUFA12	55967	broad.mit.edu	37	chr12	95397430	95397430	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgatctgctgcagcccGcgtttcaggacctgcactaa	11	14	2	1	rs11554615		TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:95397430G>C	uc001tdl.2	-	1	82	c.27C>G	c.(25-27)CGC>CGG	p.R9R		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	13kDa differentiation-associated protein	9					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	GCTGCAGCCCGCGTTTCAGGA	0.652													C	95397430	G	C	95397430	2	2	212	1	0	0	0	0	0	0	0	1	10262	1074	38	5		5	NDUFA12	12	95397430	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	24432391	95397430	38454465	238	112676											
UTP20	27340	broad.mit.edu	37	chr12	101759288	101759288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggaaagttcatgaaactTtacgccgaatcacagtggga	10	10	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:101759288T>G	uc001tia.1	+	46	6166	c.6010T>G	c.(6010-6012)TTA>GTA	p.L2004V		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2004					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			ovary(2)|breast(2)	4						TCATGAAACTTTACGCCGAAT	0.373													G	101759288	T	G	101759288	3	3	212	1	0	0	0	0	1	0	0	0	17096	1838	64	5	6192	5	UTP20	12	101759288	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6361858	101759288	32092607	239	112677											
ACACB	32	broad.mit.edu	37	chr12	109637357	109637357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagctacgctgagatggaGgtgactgcagagccggccgt	16	10	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:109637357G>A	uc001tob.2	+	18	2897	c.2778G>A	c.(2776-2778)GAG>GAA	p.E926E	ACACB_uc001toc.2_Silent_p.E926E	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	926	Biotinyl-binding.				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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTGAGATGGAGGTGACTGCAG	0.587													A	109637357	G	A	109637357	2	1	212	1	0	0	0	0	0	0	0	1	107	1014	35	4		4	ACACB	12	109637357	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7878069	109637357	24214538	240	112678											
ERP29	10961	broad.mit.edu	37	chr12	112460298	112460298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatcatggggaagatcTtagaccaaggggaggacttc	14	6	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:112460298T>G	uc001ttk.1	+	3	746	c.628T>G	c.(628-630)TTA>GTA	p.L210V	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	210					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0						GGGGAAGATCTTAGACCAAGG	0.532													G	112460298	T	G	112460298	3	3	212	1	0	0	0	0	1	0	0	0	5242	1606	56	5	638	5	ERP29	12	112460298	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2822941	112460298	21391597	241	112679											
C12orf51	283450	broad.mit.edu	37	chr12	112630954	112630954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgttgactttggattcGgaaattgggaactcttcgga	11	7	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:112630954G>A	uc009zwc.2	-	51	7749	c.7731C>T	c.(7729-7731)TCC>TCT	p.S2577S		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTTTGGATTCGGAAATTGGGA	0.473													A	112630954	G	A	112630954	2	1	212	1	0	0	0	0	0	0	0	1	1696	1103	39	1		1	C12orf51	12	112630954	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	170656	112630954	21220941	242	112680											
TPCN1	53373	broad.mit.edu	37	chr12	113705654	113705654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctggtctcaggtccacGccaccctggagctgtttgcc	10	17	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:113705654G>A	uc001tuw.2	+	5	718	c.421G>A	c.(421-423)GCC>ACC	p.A141T	TPCN1_uc001tux.2_Missense_Mutation_p.A213T|TPCN1_uc010syt.1_Missense_Mutation_p.A73T	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	141	Helical; Name=S2 of repeat I; (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						TCAGGTCCACGCCACCCTGGA	0.612													A	113705654	G	A	113705654	3	1	212	1	0	0	0	0	1	0	0	0	16392	1087	38	1	655	1	TPCN1	12	113705654	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	1074700	113705654	20146241	243	112681											
SBNO1	55206	broad.mit.edu	37	chr12	123812541	123812541	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaccaacaggacataAgtttttggctttatgacact	8	7	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr12:123812541A>C	uc010tap.1	-	10	1330	c.1330T>G	c.(1330-1332)TTA>GTA	p.L444V	SBNO1_uc010tao.1_Missense_Mutation_p.L443V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.L444V|SBNO1_uc001ueu.2_Missense_Mutation_p.L443V|SBNO1_uc001uev.2_Missense_Mutation_p.L442V|SBNO1_uc009zxy.1_Missense_Mutation_p.L409V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	444							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACAGGACATAAGTTTTTGGCT	0.368													C	123812541	A	C	123812541	3	2	212	1	0	0	0	0	1	0	0	0	13862	69	3	5	2939	5	SBNO1	12	123812541	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	10106887	123812541	10039354	244	112682											
SACS	26278	broad.mit.edu	37	chr13	23905608	23905608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcactcctaaactgtcaAgtttctcaccaatcctgtaa	3	12	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:23905608A>C	uc001uon.2	-	10	12996	c.12407T>G	c.(12406-12408)CTT>CGT	p.L4136R	SACS_uc001uoo.2_Missense_Mutation_p.L3989R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4136					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TAAACTGTCAAGTTTCTCACC	0.383													C	23905608	A	C	23905608	3	2	212	1	0	0	0	0	1	0	0	0	13804	72	3	5	1336	5	SACS	13	23905608	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08		23905608	91264270	245	112683											
ATP12A	479	broad.mit.edu	37	chr13	25262594	25262594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatcctcctgtgggtgggCgcctttctctgttggattgc	12	11	2	0	rs150504279	by1000genomes	TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:25262594C>T	uc001upp.2	+	4	553	c.366C>T	c.(364-366)GGC>GGT	p.G122G	ATP12A_uc010aaa.2_Silent_p.G122G	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	122	Helical; (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGTGGGTGGGCGCCTTTCTCT	0.572													T	25262594	C	T	25262594	2	4	212	1	0	0	0	0	0	0	0	1	1122	755	27	1		1	ATP12A	13	25262594	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	1356986	25262594	89907284	246	112684											
RXFP2	122042	broad.mit.edu	37	chr13	32376379	32376379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccaacttttttaaggacaAgttgaaacagctgctgcaca	7	9	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:32376379A>C	uc001utt.2	+	18	2173	c.2102A>C	c.(2101-2103)AAG>ACG	p.K701T	RXFP2_uc010aba.2_Missense_Mutation_p.K660T	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	701	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTAAGGACAAGTTGAAACAG	0.363													C	32376379	A	C	32376379	3	2	212	1	0	0	0	0	1	0	0	0	13760	72	3	5	2172	5	RXFP2	13	32376379	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	7113785	32376379	82793499	247	112685											
STARD13	90627	broad.mit.edu	37	chr13	33859652	33859652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcgtgctagaatccggcTcatcctgtaaggagagcgtc	13	10	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:33859652T>G	uc001uuw.2	-	1	250	c.124A>C	c.(124-126)AGC>CGC	p.S42R	STARD13_uc001uux.2_Intron|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Intron	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	42					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	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)		AGAATCCGGCTCATCCTGTAA	0.498													G	33859652	T	G	33859652	3	3	212	1	0	0	0	0	1	0	0	0	15255	1551	54	5	3422	5	STARD13	13	33859652	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1483273	33859652	81310226	248	112686											
CCDC70	83446	broad.mit.edu	37	chr13	52439824	52439824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaaccttctggaaagagGaaaaatccttctgggaaatg	10	6	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:52439824G>A	uc001vfu.3	+	2	606	c.310G>A	c.(310-312)GAA>AAA	p.E104K	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	104						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTGGAAAGAGGAAAAATCCTT	0.473													A	52439824	G	A	52439824	3	1	212	1	0	0	0	0	1	0	0	0	2843	1175	41	4	312	4	CCDC70	13	52439824	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	18580172	52439824	62730054	249	112687											
PCDH17	27253	broad.mit.edu	37	chr13	58299162	58299162	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaagcagtcagtacTtgcccactgacagtcaatat	8	11	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:58299162T>A	uc001vhq.1	+	4	4106	c.3214T>A	c.(3214-3216)TTG>ATG	p.L1072M	PCDH17_uc010aec.1_Missense_Mutation_p.L1071M|PCDH17_uc001vhr.1_Missense_Mutation_p.L161M	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1072	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532													A	58299162	T	A	58299162	3	1	212	1	0	0	0	0	1	0	0	0	11512	1606	56	5	3228	5	PCDH17	13	58299162	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	5859338	58299162	56870716	250	112688											
LMO7	4008	broad.mit.edu	37	chr13	76427387	76427387	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaaccgtgcctacatgcgGaacccctcctccagcgtgcc	8	18	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:76427387G>A	uc001vjv.2	+	25	4585	c.3825G>A	c.(3823-3825)CGG>CGA	p.R1275R	LMO7_uc010thv.1_Silent_p.R1226R|LMO7_uc010thw.1_Silent_p.R1152R	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1560						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCTACATGCGGAACCCCTCCT	0.602													A	76427387	G	A	76427387	2	1	212	1	0	0	0	0	0	0	0	1	8855	1161	41	4		4	LMO7	13	76427387	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	18128225	76427387	38742491	251	112689											
EDNRB	1910	broad.mit.edu	37	chr13	78492700	78492700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcacagacttggaggCggctgcatgctgctacctgc	13	14	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:78492700C>T	uc001vko.2	-	1	267	c.9G>A	c.(7-9)CCG>CCA	p.P3P	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Silent_p.P3P|EDNRB_uc010aez.1_Silent_p.P3P|EDNRB_uc001vkp.1_Silent_p.P86P|EDNRB_uc010afa.1_Silent_p.P3P	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	3					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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GACTTGGAGGCGGCTGCATGC	0.642											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	78492700	C	T	78492700	2	4	212	1	0	0	0	0	0	0	0	1	4920	755	27	1		1	EDNRB	13	78492700	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	2065313	78492700	36677178	252	112690											
RBM26	64062	broad.mit.edu	37	chr13	79940817	79940817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctggcggtggtactggGggcctgagattcacaggtgg	19	8	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:79940817G>A	uc001vkz.2	-	7	1100	c.1086C>T	c.(1084-1086)CCC>CCT	p.P362P	RBM26_uc001vky.2_Silent_p.P362P|RBM26_uc001vla.2_Silent_p.P362P|RBM26_uc001vkx.2_Silent_p.P74P|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	362	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTGGTACTGGGGGCCTGAGAT	0.527													A	79940817	G	A	79940817	2	1	212	1	0	0	0	0	0	0	0	1	13126	1219	43	4		4	RBM26	13	79940817	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	1448117	79940817	35229061	253	112691											
SLITRK1	114798	broad.mit.edu	37	chr13	84454576	84454576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttgttgcagttcatcTttaaacccgaccctgggatg	9	11	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:84454576T>G	uc001vlk.2	-	1	1953	c.1067A>C	c.(1066-1068)AAG>ACG	p.K356T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	356	Extracellular (Potential).|LRRNT 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAGTTCATCTTTAAACCCGA	0.537													G	84454576	T	G	84454576	3	3	212	1	0	0	0	0	1	0	0	0	14742	1609	56	5	1027	5	SLITRK1	13	84454576	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4513759	84454576	30715302	254	112692											
SLITRK5	26050	broad.mit.edu	37	chr13	88329798	88329798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtacagcgtgtacggcGgcggcggcggcacgggcggc	20	12	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:88329798G>A	uc001vln.2	+	2	2374	c.2155G>A	c.(2155-2157)GGC>AGC	p.G719S	SLITRK5_uc010tic.1_Missense_Mutation_p.G478S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	719	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGTGTACGGCGGCGGCGGCGG	0.647													A	88329798	G	A	88329798	3	1	212	1	0	0	0	0	1	0	0	0	14746	1116	39	1	2157	1	SLITRK5	13	88329798	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	3875222	88329798	26840080	255	112693											
UGGT2	55757	broad.mit.edu	37	chr13	96579548	96579548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtacaacattattcctatCcattagaaaatcaattgcat	5	8	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:96579548C>T	uc001vmt.2	-	18	2190	c.2020G>A	c.(2020-2022)GAT>AAT	p.D674N		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	674					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TTATTCCTATCCATTAGAAAA	0.299													T	96579548	C	T	96579548	3	4	212	1	0	0	0	0	1	0	0	0	16939	855	30	4	2618	4	UGGT2	13	96579548	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	8249750	96579548	18590330	256	112694											
TFDP1	7027	broad.mit.edu	37	chr13	114290350	114290350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggagcagcaggccagccGgccaccgccacccaactcag	12	18	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr13:114290350G>A	uc001vtw.2	+	9	958	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	TFDP1_uc010tkd.1_Missense_Mutation_p.R154Q|TFDP1_uc010tke.1_Missense_Mutation_p.R154Q|TFDP1_uc001vty.3_Missense_Mutation_p.R249Q|TFDP1_uc001vtx.2_Missense_Mutation_p.R129Q	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	249	Dimerization (Potential).|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CAGGCCAGCCGGCCACCGCCA	0.552										TSP Lung(29;0.18)			A	114290350	G	A	114290350	3	1	212	1	0	0	0	0	1	0	0	0	15794	1116	39	1	776	1	TFDP1	13	114290350	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	17710802	114290350	879528	257	112695											
OR4K13	390433	broad.mit.edu	37	chr14	20502077	20502077	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataaataataggatttaagaGaggtgtgaaaattgtgtaaa	10	0	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:20502077G>T	uc010tkz.1	-	1	841	c.841C>A	c.(841-843)CTC>ATC	p.L281I		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGATTTAAGAGAGGTGTGAAA	0.333													T	20502077	G	T	20502077	3	4	212	1	0	0	0	0	1	0	0	0	11068	942	33	5	75	5	OR4K13	14	20502077	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08		20502077	86847463	258	112696											
RGS6	9628	broad.mit.edu	37	chr14	72926380	72926380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactgctgggaacctgaaaAcactgactatggtgagaact	11	8	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:72926380A>C	uc001xna.3	+	6	906	c.383A>C	c.(382-384)AAC>ACC	p.N128T	RGS6_uc010ttn.1_Missense_Mutation_p.N128T|RGS6_uc001xmx.3_Missense_Mutation_p.N128T|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.N128T|RGS6_uc010ttp.1_Missense_Mutation_p.N59T|RGS6_uc001xmz.1_5'UTR|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	128					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			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		GAACCTGAAAACACTGACTAT	0.557													C	72926380	A	C	72926380	3	2	212	1	0	0	0	0	1	0	0	0	13309	43	2	5	401	5	RGS6	14	72926380	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	52424303	72926380	34423160	259	112697											
KIAA0317	9870	broad.mit.edu	37	chr14	75139568	75139568	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgtctgctgaccttcaggGtgactttggaatgtggtctt	12	8	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:75139568G>C	uc001xqb.2	-	11	1893	c.1388C>G	c.(1387-1389)ACC>AGC	p.T463S	KIAA0317_uc010tut.1_Missense_Mutation_p.T302S|KIAA0317_uc001xqc.2_Missense_Mutation_p.T463S	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	463					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GACCTTCAGGGTGACTTTGGA	0.453													C	75139568	G	C	75139568	3	2	212	1	0	0	0	0	1	0	0	0	8167	1261	44	5	1123	5	KIAA0317	14	75139568	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2213188	75139568	32209972	260	112698											
POMT2	29954	broad.mit.edu	37	chr14	77778318	77778318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggggcgggtgcacatcaaAgaaaaatgtacggttgatat	13	6	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:77778318A>G	uc001xti.2	-	2	508	c.307T>C	c.(307-309)TTT>CTT	p.F103L	POMT2_uc010asr.2_Intron	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	103	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TGCACATCAAAGAAAAATGTA	0.423													G	77778318	A	G	77778318	3	3	212	1	0	0	0	0	1	0	0	0	12246	72	3	3	2025	3	POMT2	14	77778318	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2638750	77778318	29571222	261	112699											
KIAA1409	57578	broad.mit.edu	37	chr14	94112973	94112973	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattggcatccagtactaccTtttctaatcaagcagaaagg	8	9	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:94112973T>A	uc001ybv.1	+	34	5799	c.5716T>A	c.(5716-5718)TTT>ATT	p.F1906I	KIAA1409_uc001ybs.1_Missense_Mutation_p.F1884I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2061						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CAGTACTACCTTTTCTAATCA	0.403													A	94112973	T	A	94112973	3	1	212	1	0	0	0	0	1	0	0	0	8230	1609	56	5	5780	5	KIAA1409	14	94112973	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	16334655	94112973	13236567	262	112700											
CLMN	79789	broad.mit.edu	37	chr14	95669187	95669187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtacctgatggctgtcCatggggtcattctctttggt	12	8	2	2	rs150763369	byFrequency	TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:95669187C>A	uc001yef.2	-	9	2615	c.2499G>T	c.(2497-2499)ATG>ATT	p.M833I		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	833						integral to membrane	actin binding				0				Epithelial(152;0.193)		GATGGCTGTCCATGGGGTCAT	0.557													A	95669187	C	A	95669187	3	1	212	1	0	0	0	0	1	0	0	0	3542	594	21	5	529	5	CLMN	14	95669187	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	1556214	95669187	11680353	263	112701											
DIO3	1735	broad.mit.edu	37	chr14	102028220	102028220	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggatttcttcaagcaggcGcacgagggcggtccggcgcc	15	12	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:102028220G>T	uc010txq.1	+	1	533	c.309G>T	c.(307-309)GCG>GCT	p.A103A	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	103	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				TCAAGCAGGCGCACGAGGGCG	0.657													T	102028220	G	T	102028220	2	4	212	1	0	0	0	0	0	0	0	1	4526	1074	38	5		5	DIO3	14	102028220	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	6359033	102028220	5321320	264	112702											
AHNAK2	113146	broad.mit.edu	37	chr14	105415965	105415965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgacatcgggggctgtcacTtccgccttggggcctttcag	13	13	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr14:105415965T>G	uc010axc.1	-	7	5943	c.5823A>C	c.(5821-5823)GAA>GAC	p.E1941D	AHNAK2_uc001ypx.2_Missense_Mutation_p.E1841D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1941						nucleus				ovary(1)	1		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)			GGGCTGTCACTTCCGCCTTGG	0.607													G	105415965	T	G	105415965	3	3	212	1	0	0	0	0	1	0	0	0	415	1606	56	5	11568	5	AHNAK2	14	105415965	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	3387745	105415965	1933575	265	112703											
C15orf55	256646	broad.mit.edu	37	chr15	34649257	34649257	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatagttccgagagaaacTtctgttagtaaaacacacag	8	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr15:34649257T>G	uc001zif.2	+	7	3119	c.2964T>G	c.(2962-2964)ACT>ACG	p.T988T	C15orf55_uc010ucc.1_Silent_p.T1016T|C15orf55_uc010ucd.1_Silent_p.T1006T	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	988						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CGAGAGAAACTTCTGTTAGTA	0.473			T	BRD3|BRD4	lethal midline carcinoma								G	34649257	T	G	34649257	2	3	212	1	0	0	0	0	0	0	0	1	1803	1596	56	5		5	C15orf55	15	34649257	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08		34649257	67882135	266	112704											
TLN2	83660	broad.mit.edu	37	chr15	62945507	62945507	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggccaagctgcacacagatGatgaccgtaagtgtttgcag	12	9	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr15:62945507G>A	uc002alb.3	+	4	511	c.511G>A	c.(511-513)GAT>AAT	p.D171N		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	171	FERM.				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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCACACAGATGATGACCGTAA	0.473													A	62945507	G	A	62945507	3	1	212	1	0	0	0	0	1	0	0	0	15945	1290	45	4	525	4	TLN2	15	62945507	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	28296250	62945507	39585885	267	112705											
HERC1	8925	broad.mit.edu	37	chr15	63926976	63926976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtcactctctctggaaGttttttgttagaggtatttc	9	7	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr15:63926976G>A	uc002amp.2	-	66	12674	c.12526C>T	c.(12526-12528)CTT>TTT	p.L4176F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4176	RCC1 11.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CTCTCTGGAAGTTTTTTGTTA	0.423													A	63926976	G	A	63926976	3	1	212	1	0	0	0	0	1	0	0	0	7057	1029	36	4	2111	4	HERC1	15	63926976	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	981469	63926976	38604416	268	112706											
WDR90	197335	broad.mit.edu	37	chr16	705073	705073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgggcctcggtggcgaGgtggtcgttctggcaaaggc	19	9	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:705073G>A	uc002cii.1	+	14	1536	c.1482G>A	c.(1480-1482)GAG>GAA	p.E494E	WDR90_uc002cig.1_Silent_p.E494E|WDR90_uc002cih.1_Silent_p.E495E|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_5'UTR|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	494	WD 2.									ovary(1)	1		Hepatocellular(780;0.0218)				TCGGTGGCGAGGTGGTCGTTC	0.642													A	705073	G	A	705073	2	1	212	1	0	0	0	0	0	0	0	1	17334	991	35	4		4	WDR90	16	705073	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08		705073	89649680	269	112707											
ZG16B	124220	broad.mit.edu	37	chr16	2882108	2882108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactagaggagccgaccaCtgagccaccagttaatctca	8	14	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:2882108C>T	uc002cru.2	+	4	651	c.575C>T	c.(574-576)ACT>ATT	p.T192I		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16 homolog B precursor	192						extracellular region	sugar binding			ovary(1)	1						GAGCCGACCACTGAGCCACCA	0.562													T	2882108	C	T	2882108	3	4	212	1	0	0	0	0	1	0	0	0	17669	565	20	4	589	4	ZG16B	16	2882108	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	2177035	2882108	87472645	270	112708											
GRIN2A	2903	broad.mit.edu	37	chr16	9934899	9934899	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttctggaaagcttcttcAgaatatcaatgcagaacccc	7	11	4	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:9934899A>G	uc002czo.3	-	6	1939	c.1391T>C	c.(1390-1392)CTG>CCG	p.L464P	GRIN2A_uc010uym.1_Missense_Mutation_p.L464P|GRIN2A_uc010uyn.1_Missense_Mutation_p.L307P|GRIN2A_uc002czr.3_Missense_Mutation_p.L464P	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	464	Extracellular (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGCTTCTTCAGAATATCAAT	0.353													G	9934899	A	G	9934899	3	3	212	1	0	0	0	0	1	0	0	0	6779	188	7	3	3035	3	GRIN2A	16	9934899	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	7052791	9934899	80419854	271	112709											
USP31	57478	broad.mit.edu	37	chr16	23080245	23080245	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agagacttttacaggaagagGagaagaaggggatgtacttg	15	3	0	4	rs151219972	by1000genomes	TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:23080245G>C	uc002dll.2	-	16	3181	c.3181C>G	c.(3181-3183)CCT>GCT	p.P1061A	USP31_uc002dlk.2_Missense_Mutation_p.P333A|USP31_uc010vca.1_Missense_Mutation_p.P364A|USP31_uc010bxm.2_Missense_Mutation_p.P349A	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1061	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		ACAGGAAGAGGAGAAGAAGGG	0.557													C	23080245	G	C	23080245	3	2	212	1	0	0	0	0	1	0	0	0	17059	1174	41	5	881	5	USP31	16	23080245	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	13145346	23080245	67274508	272	112710											
NSMCE1	197370	broad.mit.edu	37	chr16	27238064	27238064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggaggctgtgacagaTattgcagatcttcaccgcgt	13	8	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:27238064T>C	uc002doi.1	-	6	675	c.577A>G	c.(577-579)ATC>GTC	p.I193V	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	193	NSE1-type.				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						CTGTGACAGATATTGCAGATC	0.627													C	27238064	T	C	27238064	3	2	212	1	0	0	0	0	1	0	0	0	10675	1406	49	3	235	3	NSMCE1	16	27238064	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4157819	27238064	63116689	273	112711											
CYLD	1540	broad.mit.edu	37	chr16	50825577	50825577	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgttagaatggtcttttatCaacagtaacctgaaatttgc	7	6	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:50825577C>G	uc002egp.1	+	15	2632	c.2217C>G	c.(2215-2217)ATC>ATG	p.I739M	CYLD_uc010cbs.1_Missense_Mutation_p.I736M|CYLD_uc002egq.1_Missense_Mutation_p.I736M|CYLD_uc002egr.1_Missense_Mutation_p.I736M	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	739					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			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GGTCTTTTATCAACAGTAACC	0.348			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				G	50825577	C	G	50825577	3	3	212	1	0	0	0	0	1	0	0	0	4143	816	29	5	2267	5	CYLD	16	50825577	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	23587513	50825577	39529176	274	112712											
GPR97	222487	broad.mit.edu	37	chr16	57707259	57707259	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcccaccgaagggccaAgaaacacctgcctggggagc	12	13	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:57707259A>C	uc002emh.2	+	2	188	c.85A>C	c.(85-87)AGA>CGA	p.R29R	GPR97_uc010cdc.2_Silent_p.R29R|GPR97_uc010vhv.1_5'UTR|GPR97_uc010cdd.2_RNA	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	29	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						CGAAGGGCCAAGAAACACCTG	0.443													C	57707259	A	C	57707259	2	2	212	1	0	0	0	0	0	0	0	1	6720	64	3	5		5	GPR97	16	57707259	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	6881682	57707259	32647494	275	112713											
C16orf46	123775	broad.mit.edu	37	chr16	81095607	81095607	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccctcagtaggaggcTtggtctggaggctccagtgg	16	12	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:81095607T>C	uc002fgc.3	-	4	606	c.347A>G	c.(346-348)AAG>AGG	p.K116R	C16orf46_uc010chf.2_Missense_Mutation_p.K116R|C16orf46_uc010vno.1_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	116											0						AGTAGGAGGCTTGGTCTGGAG	0.617													C	81095607	T	C	81095607	3	2	212	1	0	0	0	0	1	0	0	0	1815	1609	56	3	872	3	C16orf46	16	81095607	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	23388348	81095607	9259146	276	112714											
SNAI3	333929	broad.mit.edu	37	chr16	88748082	88748082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctcgggggaggaggggCaccaccagccccccacaggc	15	15	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr16:88748082C>T	uc002flj.2	-	2	185	c.117G>A	c.(115-117)GTG>GTA	p.V39V	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	39					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGAGGAGGGGCACCACCAGCC	0.632													T	88748082	C	T	88748082	2	4	212	1	0	0	0	0	0	0	0	1	14828	697	25	2		2	SNAI3	16	88748082	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	7652475	88748082	1606671	277	112715											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577120	C	T	7577120	3	4	212	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08		7577120	73618090	278	112716											
GLP2R	9340	broad.mit.edu	37	chr17	9792877	9792877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggctcctacatctagCcatgcgaggtcttggggagc	15	11	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:9792877C>A	uc002gmd.1	+	13	1517	c.1517C>A	c.(1516-1518)GCC>GAC	p.A506D		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	506	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CTACATCTAGCCATGCGAGGT	0.622													A	9792877	C	A	9792877	3	1	212	1	0	0	0	0	1	0	0	0	6453	739	26	5	1567	5	GLP2R	17	9792877	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	2215757	9792877	71402333	279	112717											
MYH1	4619	broad.mit.edu	37	chr17	10415739	10415739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaccttcagtgccatctGgctcagcttgctcctcacgc	9	15	4	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:10415739G>A	uc002gmo.2	-	12	1227	c.1133C>T	c.(1132-1134)CCA>CTA	p.P378L	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	378	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AGTGCCATCTGGCTCAGCTTG	0.423													A	10415739	G	A	10415739	3	1	212	1	0	0	0	0	1	0	0	0	10029	1348	47	4	4802	4	MYH1	17	10415739	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	622862	10415739	70779471	280	112718											
MYO15A	51168	broad.mit.edu	37	chr17	18044113	18044113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccaggtgcaaccccttGttcatgcgttgcctgaagcc	10	14	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:18044113G>A	uc010vxh.1	+	20	5711	c.5373G>A	c.(5371-5373)TTG>TTA	p.L1791L		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1791	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCAACCCCTTGTTCATGCGTT	0.502											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18044113	G	A	18044113	2	1	212	1	0	0	0	0	0	0	0	1	10063	1368	48	4		4	MYO15A	17	18044113	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7628374	18044113	63151097	281	112719											
GJD3	125111	broad.mit.edu	37	chr17	38520012	38520012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaggcggcccacgagcGgcgactgcagctgcacggcg	17	15	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:38520012G>A	uc010cwz.2	-	1	934	c.56C>T	c.(55-57)CCG>CTG	p.P19L	uc010cxa.1_Missense_Mutation_p.R275Q	NM_152219	NP_689343	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	19	Cytoplasmic (Potential).				cell communication|gap junction assembly	cell surface|connexon complex|integral to plasma membrane	protein binding				0		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			GCCCACGAGCGGCGACTGCAG	0.701													A	38520012	G	A	38520012	3	1	212	1	0	0	0	0	1	0	0	0	6418	1116	39	1	832	1	GJD3	17	38520012	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	20475899	38520012	42675198	282	112720											
MLX	6945	broad.mit.edu	37	chr17	40721590	40721590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaggtgtccacgttaCgcaaggatgtcaccgcccta	13	11	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:40721590C>T	uc002iag.2	+	6	669	c.604C>T	c.(604-606)CGC>TGC	p.R202C	MLX_uc002iaf.2_Missense_Mutation_p.R148C|MLX_uc002iah.2_Missense_Mutation_p.R118C	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	202					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTCCACGTTACGCAAGGATGT	0.498													T	40721590	C	T	40721590	3	4	212	1	0	0	0	0	1	0	0	0	9635	536	19	1	626	1	MLX	17	40721590	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	2201578	40721590	40473620	283	112721											
MED13	9969	broad.mit.edu	37	chr17	60033154	60033154	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgtctttgagccttTtacttagagactgcaagttt	7	8	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:60033154T>G	uc002izo.2	-	25	5746	c.5669A>C	c.(5668-5670)AAA>ACA	p.K1890T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1890					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			large_intestine(1)|ovary(1)	2						TTTGAGCCTTTTACTTAGAGA	0.403													G	60033154	T	G	60033154	3	3	212	1	0	0	0	0	1	0	0	0	9430	1841	64	5	879	5	MED13	17	60033154	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	19311564	60033154	21162056	284	112722											
BPTF	2186	broad.mit.edu	37	chr17	65888127	65888127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcacatgaagcaaatAaattatttaaggagggcaaa	9	7	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:65888127A>G	uc002jgf.2	+	5	2093	c.2032A>G	c.(2032-2034)AAA>GAA	p.K678E	BPTF_uc002jge.2_Missense_Mutation_p.K804E|BPTF_uc010wqm.1_Missense_Mutation_p.K741E	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	804					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			ovary(2)|skin(2)	4	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)			TGAAGCAAATAAATTATTTAA	0.408													G	65888127	A	G	65888127	3	3	212	1	0	0	0	0	1	0	0	0	1495	363	13	3	2436	3	BPTF	17	65888127	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	5854973	65888127	15307083	285	112723											
NUP85	79902	broad.mit.edu	37	chr17	73231771	73231771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggctcactggaaggttcCtgagaactgcttcaatgtgg	13	8	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:73231771C>T	uc002jng.1	+	19	2228	c.1968C>T	c.(1966-1968)TCC>TCT	p.S656S	NUP85_uc010dgd.1_Silent_p.S611S|NUP85_uc010wrv.1_Silent_p.S610S|NUP85_uc002jnh.1_Silent_p.S259S	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	656					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			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGGAAGGTTCCTGAGAACTGC	0.398													T	73231771	C	T	73231771	2	4	212	1	0	0	0	0	0	0	0	1	10770	668	24	4		4	NUP85	17	73231771	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	7343644	73231771	7963439	286	112724											
SYNGR2	9144	broad.mit.edu	37	chr17	76167882	76167882	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgacttcatccagaaTtacgttgaccccactccgga	9	13	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr17:76167882T>A	uc002juu.1	+	4	567	c.540T>A	c.(538-540)AAT>AAA	p.N180K	SYNGR2_uc002jut.2_Missense_Mutation_p.I210N|SYNGR2_uc002juv.1_Missense_Mutation_p.L134I|SYNGR2_uc010dhi.1_RNA	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	180						integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			TCATCCAGAATTACGTTGACC	0.627													A	76167882	T	A	76167882	3	1	212	1	0	0	0	0	1	0	0	0	15446	1490	52	5	554	5	SYNGR2	17	76167882	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2936111	76167882	5027328	287	112725											
CLUL1	27098	broad.mit.edu	37	chr18	633357	633357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggacagaggactgtgtGgggaacttgaccagaatttg	16	6	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:633357G>A	uc002kkp.2	+	6	1061	c.916G>A	c.(916-918)GGG>AGG	p.G306R	CLUL1_uc010wys.1_Missense_Mutation_p.G358R|CLUL1_uc002kkq.2_Missense_Mutation_p.G306R	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	306					cell death	extracellular region				ovary(2)	2						AGGACTGTGTGGGGAACTTGA	0.403													A	633357	G	A	633357	3	1	212	1	0	0	0	0	1	0	0	0	3570	1348	47	4	934	4	CLUL1	18	633357	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08		633357	77443891	288	112726											
ANKRD12	23253	broad.mit.edu	37	chr18	9256587	9256587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattaagcaaaaagaaaagGaacggttgagaaaccgaaac	9	5	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:9256587G>A	uc002knv.2	+	9	3579	c.3322G>A	c.(3322-3324)GAA>AAA	p.E1108K	ANKRD12_uc002knw.2_Missense_Mutation_p.E1085K|ANKRD12_uc002knx.2_Missense_Mutation_p.E1085K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E815K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1108						nucleus				ovary(2)|central_nervous_system(1)	3						AAAAGAAAAGGAACGGTTGAG	0.308													A	9256587	G	A	9256587	3	1	212	1	0	0	0	0	1	0	0	0	640	1175	41	4	3352	4	ANKRD12	18	9256587	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	8623230	9256587	68820661	289	112727											
SPIRE1	56907	broad.mit.edu	37	chr18	12463377	12463377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaactctgcctggaaggCggcaggaactgcctcacgtt	14	12	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:12463377C>T	uc002kre.2	-	12	1658	c.1611G>A	c.(1609-1611)CCG>CCA	p.P537P	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.P403P|SPIRE1_uc010wzx.1_Silent_p.P326P|SPIRE1_uc010wzy.1_Silent_p.P523P	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	537						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						GCCTGGAAGGCGGCAGGAACT	0.488													T	12463377	C	T	12463377	2	4	212	1	0	0	0	0	0	0	0	1	15070	755	27	1		1	SPIRE1	18	12463377	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	3206790	12463377	65613871	290	112728											
CEP192	55125	broad.mit.edu	37	chr18	13059133	13059133	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagaataaagccatcataaGacctcatgccacagaagaga	7	10	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:13059133G>A	uc010xac.1	+	21	4390	c.4310G>A	c.(4309-4311)AGA>AAA	p.R1437K	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R962K|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.R1178K	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1437										ovary(4)|pancreas(1)	5						GCCATCATAAGACCTCATGCC	0.383													A	13059133	G	A	13059133	3	1	212	1	0	0	0	0	1	0	0	0	3251	942	33	4	4388	4	CEP192	18	13059133	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	595756	13059133	65018115	291	112729											
TTR	7276	broad.mit.edu	37	chr18	29172975	29172975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgatgacacctgggaGccatttgcctctgggtaagt	13	10	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:29172975G>T	uc002kwx.3	+	2	322	c.186G>T	c.(184-186)GAG>GAT	p.E62D		NM_000371	NP_000362	P02766	TTHY_HUMAN	transthyretin precursor	62					transport	cytoplasm	hormone activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	ACACCTGGGAGCCATTTGCCT	0.522													T	29172975	G	T	29172975	3	4	212	1	0	0	0	0	1	0	0	0	16735	962	34	5	192	5	TTR	18	29172975	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	16113842	29172975	48904273	292	112730											
FHOD3	80206	broad.mit.edu	37	chr18	34205506	34205506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaggatggcgatgagacCacggagccaccccccagtgg	14	14	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:34205506C>T	uc002kzt.1	+	10	1087	c.990C>T	c.(988-990)ACC>ACT	p.T330T	FHOD3_uc002kzr.1_Silent_p.T330T|FHOD3_uc002kzs.1_Silent_p.T330T|FHOD3_uc002kzu.1_Silent_p.T155T|FHOD3_uc010dmz.1_Silent_p.T83T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	330	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCGATGAGACCACGGAGCCAC	0.667													T	34205506	C	T	34205506	2	4	212	1	0	0	0	0	0	0	0	1	5883	581	21	4		4	FHOD3	18	34205506	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	5032531	34205506	43871742	293	112731											
FHOD3	80206	broad.mit.edu	37	chr18	34289206	34289206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcactagagcaagagccGgaagaaagagcctccctcag	12	12	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:34289206G>A	uc002kzt.1	+	14	1906	c.1809G>A	c.(1807-1809)CCG>CCA	p.P603P	FHOD3_uc002kzr.1_Silent_p.P603P|FHOD3_uc002kzs.1_Silent_p.P620P|FHOD3_uc010dmz.1_Silent_p.P335P|FHOD3_uc010dna.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	603					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGCAAGAGCCGGAAGAAAGAG	0.607													A	34289206	G	A	34289206	2	1	212	1	0	0	0	0	0	0	0	1	5883	1103	39	1		1	FHOD3	18	34289206	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	83700	34289206	43788042	294	112732											
CDH20	28316	broad.mit.edu	37	chr18	59157803	59157803	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccatgtggacttctggtaGaatgagcaatgcaaagaact	10	8	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:59157803G>T	uc010dps.1	+	1	29	c.17G>T	c.(16-18)AGA>ATA	p.R6I	CDH20_uc002lif.2_5'UTR	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	6					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				ACTTCTGGTAGAATGAGCAAT	0.443													T	59157803	G	T	59157803	3	4	212	1	0	0	0	0	1	0	0	0	3106	942	33	5	19	5	CDH20	18	59157803	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	24868597	59157803	18919445	295	112733											
RTTN	25914	broad.mit.edu	37	chr18	67802494	67802494	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttcagtcacgacactacaAtcttcatgaaatattaagga	5	9	4	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:67802494A>T	uc002lkp.2	-	22	2879	c.2811T>A	c.(2809-2811)GAT>GAA	p.D937E	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.D25E	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	937							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CGACACTACAATCTTCATGAA	0.279													T	67802494	A	T	67802494	3	4	212	1	0	0	0	0	1	0	0	0	13737	98	4	5	3981	5	RTTN	18	67802494	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	8644691	67802494	10274754	296	112734											
PQLC1	80148	broad.mit.edu	37	chr18	77679395	77679395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgccagaagtggtgggggtCgaagtctagggcgagaggga	20	6	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr18:77679395C>T	uc002lnl.2	-	5	569	c.397G>A	c.(397-399)GAC>AAC	p.D133N	PQLC1_uc010dre.2_Missense_Mutation_p.D50N|PQLC1_uc002lnk.2_Missense_Mutation_p.D115N|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	133						integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGGTGGGGGTCGAAGTCTAGG	0.607													T	77679395	C	T	77679395	3	4	212	1	0	0	0	0	1	0	0	0	12418	884	31	1	426	1	PQLC1	18	77679395	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	9876901	77679395	397853	297	112735											
MIDN	90007	broad.mit.edu	37	chr19	1257094	1257094	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtagaaaggcccggcgGgacgcgcggggtccgtacca	16	14	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:1257094G>C	uc002lrp.2	+	8	1745	c.1230G>C	c.(1228-1230)CGG>CGC	p.R410R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	410						nucleolus					0		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)		AGGCCCGGCGGGACGCGCGGG	0.716													C	1257094	G	C	1257094	2	2	212	1	0	0	0	0	0	0	0	1	9579	1219	43	5		5	MIDN	19	1257094	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08		1257094	57871889	298	112736											
EMR1	2015	broad.mit.edu	37	chr19	6921816	6921816	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgtgtgatcctggaAgcttctgagacatataccat	10	8	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:6921816A>G	uc002mfw.2	+	14	1751	c.1713A>G	c.(1711-1713)GAA>GAG	p.E571E	EMR1_uc010dvc.2_Silent_p.E571E|EMR1_uc010dvb.2_Silent_p.E519E|EMR1_uc010xji.1_Silent_p.E430E|EMR1_uc010xjj.1_Silent_p.E394E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	571	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TGATCCTGGAAGCTTCTGAGA	0.478													G	6921816	A	G	6921816	2	3	212	1	0	0	0	0	0	0	0	1	5104	69	3	3		3	EMR1	19	6921816	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	5664722	6921816	52207167	299	112737											
MUC16	94025	broad.mit.edu	37	chr19	9046074	9046074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtttctgtccctggatGggtggaaagtggggctgttt	17	6	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:9046074G>A	uc002mkp.2	-	5	35761	c.35557C>T	c.(35557-35559)CAT>TAT	p.H11853Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11855	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCCCTGGATGGGTGGAAAGT	0.483													A	9046074	G	A	9046074	3	1	212	1	0	0	0	0	1	0	0	0	9973	1348	47	4	8286	4	MUC16	19	9046074	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2124258	9046074	50082909	300	112738											
MUC16	94025	broad.mit.edu	37	chr19	9062990	9062990	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttctgtcctggagacTtcagcagtggcaccagtggg	14	10	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:9062990T>G	uc002mkp.2	-	3	24660	c.24456A>C	c.(24454-24456)GAA>GAC	p.E8152D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8154	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCCTGGAGACTTCAGCAGTGG	0.542													G	9062990	T	G	9062990	3	3	212	1	0	0	0	0	1	0	0	0	9973	1606	56	5	19395	5	MUC16	19	9062990	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	16916	9062990	50065993	301	112739											
MYO9B	4650	broad.mit.edu	37	chr19	17283571	17283571	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catccatcccccaccaggacTtccgggagaagaacatggac	9	15	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:17283571T>G	uc010eak.2	+	13	2091	c.1939T>G	c.(1939-1941)TTC>GTC	p.F647V	MYO9B_uc002nfi.2_Missense_Mutation_p.F647V|MYO9B_uc002nfj.1_Missense_Mutation_p.F647V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	647	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(1)	1						CCACCAGGACTTCCGGGAGAA	0.657													G	17283571	T	G	17283571	3	3	212	1	0	0	0	0	1	0	0	0	10085	1609	56	5	1985	5	MYO9B	19	17283571	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	8220581	17283571	41845412	302	112740											
MYO9B	4650	broad.mit.edu	37	chr19	17322769	17322769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctccccaccgtggccGcccctccacgacgaaggccg	10	23	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:17322769G>A	uc010eak.2	+	40	6276	c.6124G>A	c.(6124-6126)GCC>ACC	p.A2042T	MYO9B_uc002nfi.2_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	2042	Tail.			TVAAPP -> PWPPLH (in Ref. 3; AAC26597).	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(1)	1						CACCGTGGCCGCCCCTCCACG	0.687													A	17322769	G	A	17322769	3	1	212	1	0	0	0	0	1	0	0	0	10085	1087	38	1	6289	1	MYO9B	19	17322769	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	39198	17322769	41806214	303	112741											
FCHO1	23149	broad.mit.edu	37	chr19	17877620	17877623	+	Splice_Site	DEL	GTGT	GTGT	-													agctcaagacccacaagaagGtgtgtgtcgtgggcgccgcc							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:17877619_17877622GGTGT>G	uc002nhg.3	+	7	615	c.336_splice	c.e7+1	p.K112_splice	FCHO1_uc010ebb.2_Splice_Site_p.K112_splice|FCHO1_uc002nhh.2_Splice_Site_p.K112_splice|FCHO1_uc010xpw.1_Splice_Site_p.K62_splice|FCHO1_uc010ebc.1_Splice_Site_p.K119_splice	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	112										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCACAAGAAGGTGTGTGTCGTGG	0.603													-	17877623	GTGT	-	17877620	8	5	212	1	0	1	0	1	0	0	1	0	5787	1275	44	0	351	0	FCHO1	19	17877620	Splice_Site	DEL	GTGT	TCGA-D7-6528-01A-11D-1800-08	554851	17877620	41251363	304	112742											
IL12RB1	3594	broad.mit.edu	37	chr19	18180500	18180500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtcccgttggttccgaCgctgatattcagagccactg	13	11	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:18180500C>T	uc002nhw.1	-	10	1109	c.1045G>A	c.(1045-1047)GTC>ATC	p.V349I	IL12RB1_uc010xqb.1_Missense_Mutation_p.V349I|IL12RB1_uc002nhx.1_Missense_Mutation_p.V389I	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	349	Extracellular (Potential).|Fibronectin type-III 4.				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			pancreas(1)	1						TTGGTTCCGACGCTGATATTC	0.602													T	18180500	C	T	18180500	3	4	212	1	0	0	0	0	1	0	0	0	7626	536	19	1	975	1	IL12RB1	19	18180500	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	302880	18180500	40948483	305	112743											
ZNF208	7757	broad.mit.edu	37	chr19	22155008	22155008	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcttcacatttgtagaatTtctctccagcatgagttttc	6	9	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:22155008T>G	uc002nqp.2	-	5	2677	c.2528A>C	c.(2527-2529)AAA>ACA	p.K843T	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTGTAGAATTTCTCTCCAGC	0.363													G	22155008	T	G	22155008	3	3	212	1	0	0	0	0	1	0	0	0	17763	1841	64	5	1018	5	ZNF208	19	22155008	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	3974508	22155008	36973975	306	112744											
ZNF676	163223	broad.mit.edu	37	chr19	22364289	22364289	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taatttttaagtgtaaattcTcatgtccacatttgtcatat	4	6	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:22364289T>A	uc002nqs.1	-	3	548	c.230A>T	c.(229-231)GAG>GTG	p.E77V		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTAAATTCTCATGTCCACA	0.338													A	22364289	T	A	22364289	3	1	212	1	0	0	0	0	1	0	0	0	18080	1551	54	5	1540	5	ZNF676	19	22364289	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	209281	22364289	36764694	307	112745											
ZNF99	7652	broad.mit.edu	37	chr19	22941224	22941224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattaccttatgtacagtaAgttttgaggaccacttaaaa	7	6	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:22941224A>G	uc010xrh.1	-	5	1214	c.1214T>C	c.(1213-1215)CTT>CCT	p.L405P		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGTACAGTAAGTTTTGAGGA	0.348													G	22941224	A	G	22941224	3	3	212	1	0	0	0	0	1	0	0	0	18201	72	3	3	1910	3	ZNF99	19	22941224	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	576935	22941224	36187759	308	112746											
CLIP3	25999	broad.mit.edu	37	chr19	36515470	36515470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccaccagtgccgcctctGccttgtccagggacatgtcc	11	16	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:36515470G>T	uc010eeq.1	-	6	1028	c.746C>A	c.(745-747)GCA>GAA	p.A249E	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A249E	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	249					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			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCCGCCTCTGCCTTGTCCAG	0.597													T	36515470	G	T	36515470	3	4	212	1	0	0	0	0	1	0	0	0	3534	1319	46	5	929	5	CLIP3	19	36515470	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	13574246	36515470	22613513	309	112747											
ZFP14	57677	broad.mit.edu	37	chr19	36831555	36831555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctcacgAgtatgtattctctgatggcg	10	8	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:36831555A>G	uc002odx.1	-	4	1266	c.1173T>C	c.(1171-1173)ACT>ACC	p.T391T	ZFP14_uc010xtd.1_Silent_p.T392T|ZFP14_uc010eex.1_Silent_p.T391T	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					GTTTCTCACGAGTATGTATTC	0.393													G	36831555	A	G	36831555	2	3	212	1	0	0	0	0	0	0	0	1	17636	291	11	3		3	ZFP14	19	36831555	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	316085	36831555	22297428	310	112748											
CD177	57126	broad.mit.edu	37	chr19	43866347	43866347	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctgcgcgtgagaagcgtGatgtgcagcctcctgcctct	12	13	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:43866347G>A	uc002owi.2	+	10	1231	c.1189G>A	c.(1189-1191)GAT>AAT	p.D397N	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	397					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				TGAGAAGCGTGATGTGCAGCC	0.612													A	43866347	G	A	43866347	3	1	212	1	0	0	0	0	1	0	0	0	2971	1290	45	4	1223	4	CD177	19	43866347	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7034792	43866347	15262636	311	112749											
CCDC8	83987	broad.mit.edu	37	chr19	46915030	46915030	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccctcctcagctggggcCcctgccctctgattatctgc	9	19	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:46915030C>A	uc002pep.2	-	1	1890	c.1038G>T	c.(1036-1038)GGG>GGT	p.G346G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	346						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CAGCTGGGGCCCCTGCCCTCT	0.622													A	46915030	C	A	46915030	2	1	212	1	0	0	0	0	0	0	0	1	2853	610	22	5		5	CCDC8	19	46915030	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	3048683	46915030	12213953	312	112750											
SIGLEC11	114132	broad.mit.edu	37	chr19	50461825	50461825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcccagcagctgtggagGgtctgtggggagggaggaca	22	7	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:50461825G>A	uc010ybh.1	-	8	1457	c.1366C>T	c.(1366-1368)CCT>TCT	p.P456S	SIGLEC11_uc010ybi.1_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	456	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		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)		AGCTGTGGAGGGTCTGTGGGG	0.692													A	50461825	G	A	50461825	3	1	212	1	0	0	0	0	1	0	0	0	14307	1232	43	4	746	4	SIGLEC11	19	50461825	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	3546795	50461825	8667158	313	112751											
MYBPC2	4606	broad.mit.edu	37	chr19	50949194	50949194	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaaggcccggtaccgcttCaagaaggacgggaagcgcca	13	12	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:50949194C>T	uc002psf.2	+	12	1242	c.1191C>T	c.(1189-1191)TTC>TTT	p.F397F		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	397	Ig-like C2-type 3.				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)		GGTACCGCTTCAAGAAGGACG	0.572													T	50949194	C	T	50949194	2	4	212	1	0	0	0	0	0	0	0	1	10012	825	29	4		4	MYBPC2	19	50949194	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	487369	50949194	8179789	314	112752											
ZNF614	80110	broad.mit.edu	37	chr19	52520427	52520427	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctggttgattaaacTtaaacttgatttcaaatttt	4	6	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:52520427T>A	uc002pyj.2	-	5	826	c.424A>T	c.(424-426)AGT>TGT	p.S142C	ZNF614_uc002pyi.3_Missense_Mutation_p.S142C|ZNF614_uc010epj.2_Translation_Start_Site	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTGATTAAACTTAAACTTGAT	0.328													A	52520427	T	A	52520427	3	1	212	1	0	0	0	0	1	0	0	0	18036	1609	56	5	1337	5	ZNF614	19	52520427	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1571233	52520427	6608556	315	112753											
PTPRH	5794	broad.mit.edu	37	chr19	55693409	55693412	+	Frame_Shift_Del	DEL	CTCT	CTCT	-													tctgcaccatcaacggccgaCtctctctcatcttccttaca							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:55693408_55693411ACTCT>A	uc002qjq.3	-	18	3244_3247	c.3171_3174AGAGT>T	c.(3169-3174)gagagtfs	p.E1057fs	PTPRH_uc010esv.3_Frame_Shift_Del_p.E879fs|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1057	Tyrosine-protein phosphatase.				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)		TCAACGGCCGACTCTCTCTCATCT	0.627													-	55693412	CTCT	-	55693409	7	5	212	1	0	1	0	1	0	0	0	0	12803	565	20	0	182	0	PTPRH	19	55693409	Frame_Shift_Del	DEL	CTCT	TCGA-D7-6528-01A-11D-1800-08	3172982	55693409	3435574	316	112754											
ZNF583	147949	broad.mit.edu	37	chr19	56935669	56935669	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatactatggagtcattcTtgactctttcctctccctca	4	13	6	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr19:56935669T>G	uc010ygl.1	+	5	1807	c.1642T>G	c.(1642-1644)TTG>GTG	p.L548V	ZNF583_uc002qnc.2_Missense_Mutation_p.L548V|ZNF583_uc010ygm.1_Missense_Mutation_p.L548V	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ggagtcattcttgactctttc	0.174													G	56935669	T	G	56935669	3	3	212	1	0	0	0	0	1	0	0	0	18012	1606	56	5	1656	5	ZNF583	19	56935669	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1242260	56935669	2193314	317	112755											
C20orf194	25943	broad.mit.edu	37	chr20	3296404	3296404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcttgctgggttttcTcagacaattttacttcatta	6	9	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:3296404T>C	uc002wii.2	-	19	1619	c.1568A>G	c.(1567-1569)GAG>GGG	p.E523G	C20orf194_uc002wij.3_Missense_Mutation_p.E262G|C20orf194_uc002wik.2_Missense_Mutation_p.E197G	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	523											0						CTGGGTTTTCTCAGACAATTT	0.383													C	3296404	T	C	3296404	3	2	212	1	0	0	0	0	1	0	0	0	2099	1551	54	3	2041	3	C20orf194	20	3296404	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08		3296404	59729116	318	112756											
ANKRD5	63926	broad.mit.edu	37	chr20	10025099	10025099	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggggtagtggaaatagttCgaggcatattggaaagagga	16	2	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:10025099C>T	uc002wno.2	+	5	997	c.604C>T	c.(604-606)CGA>TGA	p.R202*	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.R202*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.R13*	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	202	ANK 2.						calcium ion binding			ovary(1)|breast(1)	2						GGAAATAGTTCGAGGCATATT	0.438													T	10025099	C	T	10025099	4	4	212	1	0	0	0	0	0	1	0	0	676	876	31	1	614	1	ANKRD5	20	10025099	Nonsense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	6728695	10025099	53000421	319	112757											
MACROD2	140733	broad.mit.edu	37	chr20	15866408	15866408	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgttttcctattttttaacaGacgataataatgaagaagaa	6	4	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:15866408G>C	uc002wou.2	+	10	992	c.728_splice	c.e10-1	p.D243_splice	MACROD2_uc002wot.2_Splice_Site_p.D243_splice|MACROD2_uc002woz.2_Splice_Site_p.D8_splice|MACROD2_uc002wpb.2_Splice_Site_p.D8_splice	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1												0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTTTTTAACAGACGATAATAA	0.294													C	15866408	G	C	15866408	5	2	212	1	0	0	0	0	0	0	1	0	9146	956	33	5	765	5	MACROD2	20	15866408	Splice_Site	SNP	G	TCGA-D7-6528-01A-11D-1800-08	5841309	15866408	47159112	320	112758											
C20orf26	26074	broad.mit.edu	37	chr20	20278863	20278863	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgcgaaaaatgggacTtacttccgaattcatattaa	9	7	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:20278863T>G	uc002wru.2	+	25	3331	c.3255T>G	c.(3253-3255)ACT>ACG	p.T1085T	C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	1085										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		AAAATGGGACTTACTTCCGAA	0.448													G	20278863	T	G	20278863	2	3	212	1	0	0	0	0	0	0	0	1	2106	1596	56	5		5	C20orf26	20	20278863	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4412455	20278863	42746657	321	112759											
C20orf3	57136	broad.mit.edu	37	chr20	24952138	24952138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtcccttgtatgcatcggCcacaaagagagtcccattgg	10	11	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:24952138C>A	uc002wty.2	-	5	597	c.496G>T	c.(496-498)GCC>TCC	p.A166S	C20orf3_uc002wtz.2_Missense_Mutation_p.A166S|C20orf3_uc010zsw.1_Missense_Mutation_p.A166S	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	166	Extracellular (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1						TATGCATCGGCCACAAAGAGA	0.433													A	24952138	C	A	24952138	3	1	212	1	0	0	0	0	1	0	0	0	2109	739	26	5	774	5	C20orf3	20	24952138	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4673275	24952138	38073382	322	112760											
C20orf70	140683	broad.mit.edu	37	chr20	31763239	31763239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggccagattatcaaccTgaaagcctccttggacctcc	7	14	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:31763239T>C	uc002wyo.1	+	5	508	c.437T>C	c.(436-438)CTG>CCG	p.L146P		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	chromosome 20 open reading frame 70 precursor	146						extracellular region	lipid binding			ovary(1)|central_nervous_system(1)	2						ATTATCAACCTGAAAGCCTCC	0.542													C	31763239	T	C	31763239	3	2	212	1	0	0	0	0	1	0	0	0	2116	1580	55	3	451	3	C20orf70	20	31763239	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6811101	31763239	31262281	323	112761											
GDF5	8200	broad.mit.edu	37	chr20	34025104	34025104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcaataaagctggtgAtggtgttggccaggccagcc	13	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:34025104A>G	uc002xck.1	-	1	924	c.605T>C	c.(604-606)ATC>ACC	p.I202T	GDF5_uc010gfc.1_Missense_Mutation_p.I202T|GDF5_uc010zvc.1_Missense_Mutation_p.I202T	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	202					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			AAAGCTGGTGATGGTGTTGGC	0.607													G	34025104	A	G	34025104	3	3	212	1	0	0	0	0	1	0	0	0	6316	333	12	3	908	3	GDF5	20	34025104	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2261865	34025104	29000416	324	112762											
DLGAP4	22839	broad.mit.edu	37	chr20	35152740	35152740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcctctgtgagcaaaActtggtgagtgtgattctcc	13	10	2	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:35152740A>C	uc002xff.2	+	11	3026	c.2591A>C	c.(2590-2592)AAC>ACC	p.N864T	DLGAP4_uc010zvp.1_Missense_Mutation_p.N864T|DLGAP4_uc002xfg.2_Missense_Mutation_p.N160T|DLGAP4_uc002xfh.2_Missense_Mutation_p.N328T|DLGAP4_uc002xfi.2_Missense_Mutation_p.N173T|DLGAP4_uc002xfj.2_Missense_Mutation_p.N160T|uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	867					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGTGAGCAAAACTTGGTGAGT	0.557													C	35152740	A	C	35152740	3	2	212	1	0	0	0	0	1	0	0	0	4562	43	2	5	2753	5	DLGAP4	20	35152740	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	1127636	35152740	27872780	325	112763											
CHD6	84181	broad.mit.edu	37	chr20	40033690	40033690	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccgcagtcttttcagtcActgccgtaccacttttcgtt	6	14	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:40033690A>G	uc002xka.1	-	37	7869	c.7691T>C	c.(7690-7692)GTG>GCG	p.V2564A	CHD6_uc002xjz.1_Missense_Mutation_p.V101A	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2564					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTTTTCAGTCACTGCCGTACC	0.517													G	40033690	A	G	40033690	3	3	212	1	0	0	0	0	1	0	0	0	3329	159	6	3	460	3	CHD6	20	40033690	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	4880950	40033690	22991830	326	112764											
IFT52	51098	broad.mit.edu	37	chr20	42232466	42232466	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgatgctaggagaaggtggaGaatccagatttgacaccaat	12	6	0	5			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:42232466G>C	uc002xkw.2	+	4	396	c.274G>C	c.(274-276)GAA>CAA	p.E92Q	IFT52_uc010zwi.1_Intron|IFT52_uc002xky.2_Missense_Mutation_p.E92Q|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.E92Q|IFT52_uc002xkz.2_Missense_Mutation_p.E92Q	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	92						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGAAGGTGGAGAATCCAGATT	0.323													C	42232466	G	C	42232466	3	2	212	1	0	0	0	0	1	0	0	0	7561	943	33	5	284	5	IFT52	20	42232466	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	2198776	42232466	20793054	327	112765											
TSHZ2	128553	broad.mit.edu	37	chr20	51872267	51872267	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgtccaggcgctaccTgtttgagaacagcgatcagc	12	12	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:51872267T>G	uc002xwo.2	+	2	3226	c.2270T>G	c.(2269-2271)CTG>CGG	p.L757R		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	757					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGGCGCTACCTGTTTGAGAAC	0.522													G	51872267	T	G	51872267	3	3	212	1	0	0	0	0	1	0	0	0	16621	1580	55	5	2276	5	TSHZ2	20	51872267	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	9639801	51872267	11153253	328	112766											
STX16	8675	broad.mit.edu	37	chr20	57246276	57246276	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggtggaagagcgggaacgaGagattcgccagattgtacag	16	6	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:57246276G>C	uc002xzi.2	+	7	1450	c.715G>C	c.(715-717)GAG>CAG	p.E239Q	STX16_uc010zzq.1_Missense_Mutation_p.E53Q|STX16_uc002xzk.2_Missense_Mutation_p.E222Q|STX16_uc002xzm.2_Missense_Mutation_p.E235Q|STX16_uc002xzj.2_Missense_Mutation_p.E218Q|STX16_uc002xzl.2_Missense_Mutation_p.E53Q	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	239	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GCGGGAACGAGAGATTCGCCA	0.478													C	57246276	G	C	57246276	3	2	212	1	0	0	0	0	1	0	0	0	15338	943	33	5	741	5	STX16	20	57246276	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	5374009	57246276	5779244	329	112767											
GNAS	2778	broad.mit.edu	37	chr20	57415578	57415578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccactgagcccgagacCgagcctgaagacgatcgcgg	12	16	0	4	rs148044699		TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:57415578C>T	uc002xzt.2	+	1	784	c.417C>T	c.(415-417)ACC>ACT	p.T139T	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:Variant_position_missing_in_P63092_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCCGAGACCGAGCCTGAAG	0.652			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57415578	C	T	57415578	2	4	212	1	0	0	0	0	0	0	0	1	6510	639	23	1		1	GNAS	20	57415578	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	169302	57415578	5609942	330	112768											
SYCP2	10388	broad.mit.edu	37	chr20	58467103	58467103	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaattctttctctgctTttctatgactttgcacattt	4	9	4	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:58467103T>G	uc002yaz.2	-	23	2445	c.2306A>C	c.(2305-2307)AAA>ACA	p.K769T		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	769					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTCTCTGCTTTTCTATGACT	0.333													G	58467103	T	G	58467103	3	3	212	1	0	0	0	0	1	0	0	0	15429	1841	64	5	2374	5	SYCP2	20	58467103	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1051525	58467103	4558417	331	112769											
CDH26	60437	broad.mit.edu	37	chr20	58545194	58545194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgggttatcaccaccttgGagctggaggaggaagacccg	15	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:58545194G>A	uc002ybe.2	+	3	484	c.184G>A	c.(184-186)GAG>AAG	p.E62K	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CACCACCTTGGAGCTGGAGGA	0.507													A	58545194	G	A	58545194	3	1	212	1	0	0	0	0	1	0	0	0	3110	1175	41	4	194	4	CDH26	20	58545194	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	78091	58545194	4480326	332	112770											
PCMTD2	55251	broad.mit.edu	37	chr20	62891494	62891494	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agacttggcatggaagcatgGaaacattcacctctcagccc	9	12	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr20:62891494G>C	uc002yil.3	+	2	376	c.176G>C	c.(175-177)GGA>GCA	p.G59A	PCMTD2_uc002yim.3_Missense_Mutation_p.G59A	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	59						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGAAGCATGGAAACATTCAC	0.488													C	62891494	G	C	62891494	3	2	212	1	0	0	0	0	1	0	0	0	11587	1174	41	5	178	5	PCMTD2	20	62891494	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	4346300	62891494	134026	333	112771											
NRIP1	8204	broad.mit.edu	37	chr21	16338789	16338789	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatggtggggaattccatttGatgaccagagagtgttgaga	14	4	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr21:16338789G>C	uc002yjx.2	-	4	2323	c.1725C>G	c.(1723-1725)ATC>ATG	p.I575M		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	575	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				0				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)		AATTCCATTTGATGACCAGAG	0.453													C	16338789	G	C	16338789	3	2	212	1	0	0	0	0	1	0	0	0	10652	1280	45	5	1755	5	NRIP1	21	16338789	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08		16338789	31791106	334	112772											
TIAM1	7074	broad.mit.edu	37	chr21	32624154	32624154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcttgacggccagggCgccggccttgcgcaccgtgc	15	14	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr21:32624154C>T	uc002yow.1	-	6	1787	c.1315G>A	c.(1315-1317)GCC>ACC	p.A439T	TIAM1_uc011adk.1_Missense_Mutation_p.A439T|TIAM1_uc011adl.1_Missense_Mutation_p.A439T|TIAM1_uc002yox.1_Missense_Mutation_p.A47T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	439	PH 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	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACGGCCAGGGCGCCGGCCTTG	0.642													T	32624154	C	T	32624154	3	4	212	1	0	0	0	0	1	0	0	0	15887	768	27	1	3556	1	TIAM1	21	32624154	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	16285365	32624154	15505741	335	112773											
B3GALT5	10317	broad.mit.edu	37	chr21	41033300	41033300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttttccagggggcttaCgcttctccgtatgcctcttc	8	14	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr21:41033300C>T	uc002yyb.1	+	5	1406	c.814C>T	c.(814-816)CGC>TGC	p.R272C	B3GALT5_uc002yye.2_Missense_Mutation_p.R272C|B3GALT5_uc002yyi.1_Missense_Mutation_p.R272C|B3GALT5_uc002yyj.1_Missense_Mutation_p.R272C|B3GALT5_uc002yyk.1_Missense_Mutation_p.R272C|B3GALT5_uc002yyl.1_Missense_Mutation_p.R272C|B3GALT5_uc002yym.1_Missense_Mutation_p.R272C	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	272	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				AGGGGGCTTACGCTTCTCCGT	0.557													T	41033300	C	T	41033300	3	4	212	1	0	0	0	0	1	0	0	0	1250	536	19	1	816	1	B3GALT5	21	41033300	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	8409146	41033300	7096595	336	112774											
DSCAM	1826	broad.mit.edu	37	chr21	41414515	41414515	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcctcagttgctcttcCatcttggcgtgttcgtaggc	12	12	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr21:41414515C>G	uc002yyq.1	-	32	5921	c.5469G>C	c.(5467-5469)ATG>ATC	p.M1823I	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1823	Cytoplasmic (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCTCTTCCATCTTGGCGT	0.532													G	41414515	C	G	41414515	3	3	212	1	0	0	0	0	1	0	0	0	4768	594	21	5	577	5	DSCAM	21	41414515	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	381215	41414515	6715380	337	112775											
TRPM2	7226	broad.mit.edu	37	chr21	45838438	45838438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaggacatcagcaataAgtatgggggctccggtgggc	16	8	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr21:45838438A>C	uc002zet.1	+	23	3674	c.3461A>C	c.(3460-3462)AAG>ACG	p.K1154T	TRPM2_uc002zeu.1_Missense_Mutation_p.K1154T|TRPM2_uc002zew.1_Missense_Mutation_p.K1154T|TRPM2_uc010gpt.1_Missense_Mutation_p.K1154T|TRPM2_uc002zex.1_Missense_Mutation_p.K940T|TRPM2_uc002zey.1_Missense_Mutation_p.K667T|uc011afe.1_Intron	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1154	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						ATCAGCAATAAGTATGGGGGC	0.612													C	45838438	A	C	45838438	3	2	212	1	0	0	0	0	1	0	0	0	16583	86	3	5	3547	5	TRPM2	21	45838438	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	4423923	45838438	2291457	338	112776											
CECR2	27443	broad.mit.edu	37	chr22	18016838	18016838	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaagggcatggctgctGgctcaaggaaaggagctccc	15	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr22:18016838G>C	uc010gqw.1	+	9	1215	c.1089G>C	c.(1087-1089)CTG>CTC	p.L363L	CECR2_uc010gqv.1_Silent_p.L222L|CECR2_uc002zml.2_Silent_p.L222L|CECR2_uc002zmn.2_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	405					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CATGGCTGCTGGCTCAAGGAA	0.488													C	18016838	G	C	18016838	2	2	212	1	0	0	0	0	0	0	0	1	3206	1335	47	5		5	CECR2	22	18016838	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08		18016838	33287728	339	112777											
TOP3B	8940	broad.mit.edu	37	chr22	22313991	22313991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacaaagtagtggaacttcCtcttgaacacgtccagggtg	11	10	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr22:22313991C>T	uc002zvs.2	-	15	2207	c.1772G>A	c.(1771-1773)AGG>AAG	p.R591K	TOP3B_uc010gtm.1_Missense_Mutation_p.R136K|TOP3B_uc002zvr.2_Missense_Mutation_p.R316K|TOP3B_uc010gtl.2_Missense_Mutation_p.R591K|TOP3B_uc002zvt.3_Missense_Mutation_p.R591K	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	591					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTGGAACTTCCTCTTGAACAC	0.612													T	22313991	C	T	22313991	3	4	212	1	0	0	0	0	1	0	0	0	16365	681	24	4	832	4	TOP3B	22	22313991	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	4297153	22313991	28990575	340	112778											
EWSR1	2130	broad.mit.edu	37	chr22	29695814	29695814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatgggaggaagaagaggagGacgtggaggacctggaaaaa	19	3	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr22:29695814G>T	uc003aet.2	+	16	2232	c.1904G>T	c.(1903-1905)GGA>GTA	p.G635V	EWSR1_uc003aev.2_Missense_Mutation_p.G640V|EWSR1_uc003aew.2_Missense_Mutation_p.G579V|EWSR1_uc003aex.2_Missense_Mutation_p.G634V|EWSR1_uc003aey.2_Missense_Mutation_p.G430V|EWSR1_uc003aez.2_Missense_Mutation_p.G296V	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	635	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						AGAAGAGGAGGACGTGGAGGA	0.607			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								T	29695814	G	T	29695814	3	4	212	1	0	0	0	0	1	0	0	0	5296	1174	41	5	2083	5	EWSR1	22	29695814	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	7381823	29695814	21608752	341	112779											
NEFH	4744	broad.mit.edu	37	chr22	29885713	29885713	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcccctgagaaggccaAgtccccagtgaaggaagaag	12	10	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr22:29885713A>T	uc003afo.2	+	4	2155	c.2084A>T	c.(2083-2085)AAG>ATG	p.K695M	NEFH_uc003afp.2_Translation_Start_Site	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	701	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|20.				cell death|nervous system development	neurofilament					0						GAGAAGGCCAAGTCCCCAGTG	0.562													T	29885713	A	T	29885713	3	4	212	1	0	0	0	0	1	0	0	0	10314	72	3	5	2098	5	NEFH	22	29885713	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	189899	29885713	21418853	342	112780											
KCNJ4	3761	broad.mit.edu	37	chr22	38823739	38823739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaacccatagccgatggtCgtctgcgtctccaccgagaa	11	14	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chr22:38823739C>T	uc003avs.1	-	2	496	c.399G>A	c.(397-399)ACG>ACA	p.T133T	KCNJ4_uc003avt.1_Silent_p.T133T	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	133					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					AGCCGATGGTCGTCTGCGTCT	0.622													T	38823739	C	T	38823739	2	4	212	1	0	0	0	0	0	0	0	1	8053	871	31	1		1	KCNJ4	22	38823739	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	8938026	38823739	12480827	343	112781											
GYG2	8908	broad.mit.edu	37	chrX	2799210	2799210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgactacatggggaaggacGcgtttgctcgcatccaggag	14	10	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:2799210G>A	uc004cqs.1	+	12	1744	c.1462G>A	c.(1462-1464)GCG>ACG	p.A488T	GYG2_uc004cqt.1_Missense_Mutation_p.A457T|GYG2_uc004cqu.1_Missense_Mutation_p.A456T|GYG2_uc004cqv.1_Missense_Mutation_p.A231T|GYG2_uc004cqw.1_Missense_Mutation_p.A448T|GYG2_uc004cqx.1_Missense_Mutation_p.A386T|GYG2_uc010ndc.1_Missense_Mutation_p.A266T	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	488					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		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)				GGGGAAGGACGCGTTTGCTCG	0.557													A	2799210	G	A	2799210	3	1	212	1	0	0	0	0	1	0	0	0	6906	1087	38	1	1504	1	GYG2	23	2799210	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08		2799210	152471350	344	112782											
TBL1X	6907	broad.mit.edu	37	chrX	9679769	9679769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccctgatgggaagtacTtggccagtggatccttcgac	12	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:9679769T>G	uc010ndq.2	+	16	1926	c.1558T>G	c.(1558-1560)TTG>GTG	p.L520V	TBL1X_uc004csq.3_Missense_Mutation_p.L469V|TBL1X_uc010ndr.2_Missense_Mutation_p.L469V|TBL1X_uc004csr.2_Missense_Mutation_p.L520V|TBL1X_uc004css.2_Missense_Mutation_p.L471V	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	520	WD 7.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				TGGGAAGTACTTGGCCAGTGG	0.532													G	9679769	T	G	9679769	3	3	212	1	0	0	0	0	1	0	0	0	15636	1606	56	5	1608	5	TBL1X	23	9679769	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6880559	9679769	145590791	345	112783											
AMELX	265	broad.mit.edu	37	chrX	11316822	11316822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatcccccagcaaccaaTgatgcccgttcctggccaac	8	17	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:11316822T>G	uc004cut.2	+	5	367	c.299T>G	c.(298-300)ATG>AGG	p.M100R	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.M114R|AMELX_uc004cuu.2_Missense_Mutation_p.M84R	NM_001142	NP_001133	Q99217	AMELX_HUMAN	amelogenin (X chromosome) isoform 1 precursor	100					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				0						CAGCAACCAATGATGCCCGTT	0.642													G	11316822	T	G	11316822	3	3	212	1	0	0	0	0	1	0	0	0	569	1464	51	5	359	5	AMELX	23	11316822	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1637053	11316822	143953738	346	112784											
TLR7	51284	broad.mit.edu	37	chrX	12905418	12905418	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaccaagaacctaaaggtTctgcagaaactgatgatgaa	8	7	1	5			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:12905418T>A	uc004cvc.2	+	3	1930	c.1791T>A	c.(1789-1791)GTT>GTA	p.V597V		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	597	LRR 20.|Extracellular (Potential).				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			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	ACCTAAAGGTTCTGCAGAAAC	0.398													A	12905418	T	A	12905418	2	1	212	1	0	0	0	0	0	0	0	1	15953	1770	62	5		5	TLR7	23	12905418	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1588596	12905418	142365142	347	112785											
ACE2	59272	broad.mit.edu	37	chrX	15599426	15599426	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccgttagcatggaatTttcccagaatccttgagtca	10	9	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:15599426T>G	uc004cxa.1	-	8	1156	c.988A>C	c.(988-990)AAT>CAT	p.N330H	ACE2_uc004cxb.2_Missense_Mutation_p.N330H	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	330	Extracellular (Potential).				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			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGCATGGAATTTTCCCAGAAT	0.493													G	15599426	T	G	15599426	3	3	212	1	0	0	0	0	1	0	0	0	137	1841	64	5	1473	5	ACE2	23	15599426	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2694008	15599426	139671134	348	112786											
BEND2	139105	broad.mit.edu	37	chrX	18221885	18221885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatactgctgtaatgaacTtgaggagacaattctgggat	11	6	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:18221885T>G	uc004cyj.3	-	5	797	c.643A>C	c.(643-645)AGT>CGT	p.S215R	BEND2_uc010nfb.2_Missense_Mutation_p.S215R	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	215										ovary(3)|kidney(1)|central_nervous_system(1)	5						TGTAATGAACTTGAGGAGACA	0.468													G	18221885	T	G	18221885	3	3	212	1	0	0	0	0	1	0	0	0	1398	1609	56	5	1822	5	BEND2	23	18221885	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2622459	18221885	137048675	349	112787											
FAM48B1	100130302	broad.mit.edu	37	chrX	24382605	24382605	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaagccctctgtgcctctCattcaagctagcaggccctg	9	15	3	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:24382605C>T	uc011mjx.1	+	1	1728	c.1728C>T	c.(1726-1728)CTC>CTT	p.L576L		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1						CTGTGCCTCTCATTCAAGCTA	0.378													T	24382605	C	T	24382605	2	4	212	1	0	0	0	0	0	0	0	1	5573	813	29	4		4	FAM48B1	23	24382605	Silent	SNP	C	TCGA-D7-6528-01A-11D-1800-08	6160720	24382605	130887955	350	112788											
DMD	1756	broad.mit.edu	37	chrX	31645908	31645908	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagccaggcaagaaacTtttccaggtccagggggaac	12	10	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:31645908T>G	uc004dda.1	-	55	8343	c.8099A>C	c.(8098-8100)AAG>ACG	p.K2700T	DMD_uc004dcr.1_Missense_Mutation_p.K240T|DMD_uc004dcs.1_Missense_Mutation_p.K240T|DMD_uc004dct.1_Missense_Mutation_p.K240T|DMD_uc004dcu.1_Missense_Mutation_p.K240T|DMD_uc004dcv.1_Missense_Mutation_p.K240T|DMD_uc004dcw.2_Missense_Mutation_p.K1356T|DMD_uc004dcx.2_Missense_Mutation_p.K1359T|DMD_uc004dcz.2_Missense_Mutation_p.K2577T|DMD_uc004dcy.1_Missense_Mutation_p.K2696T|DMD_uc004ddb.1_Missense_Mutation_p.K2692T	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2700	Spectrin 19.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				GGCAAGAAACTTTTCCAGGTC	0.478													G	31645908	T	G	31645908	3	3	212	1	0	0	0	0	1	0	0	0	4580	1609	56	5	3206	5	DMD	23	31645908	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	7263303	31645908	123624652	351	112789											
FAM47A	158724	broad.mit.edu	37	chrX	34150170	34150170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatattttggggagtaaaaActcgtcacggcgacaaacga	11	7	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:34150170A>T	uc004ddg.2	-	1	259	c.226T>A	c.(226-228)TTT>ATT	p.F76I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	76										ovary(4)|central_nervous_system(1)	5						GGGAGTAAAAACTCGTCACGG	0.532													T	34150170	A	T	34150170	3	4	212	1	0	0	0	0	1	0	0	0	5569	43	2	5	2153	5	FAM47A	23	34150170	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	2504262	34150170	121120390	352	112790											
MAGEB16	139604	broad.mit.edu	37	chrX	35820769	35820769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgagagccacttctcTgagatcctcctgagagcttc	10	11	1	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:35820769T>C	uc010ngt.1	+	2	735	c.456T>C	c.(454-456)TCT>TCC	p.S152S		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	152	MAGE.									lung(3)|ovary(2)|breast(1)|skin(1)	7						GCCACTTCTCTGAGATCCTCC	0.443													C	35820769	T	C	35820769	2	2	212	1	0	0	0	0	0	0	0	1	9174	1567	55	3		3	MAGEB16	23	35820769	Silent	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1670599	35820769	119449791	353	112791											
ATP6AP2	10159	broad.mit.edu	37	chrX	40460100	40460100	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tttgacacctccctcattagGaagacaaggactatccttga	7	11	1	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:40460100G>C	uc004det.2	+	8	927	c.825G>C	c.(823-825)AGG>AGC	p.R275S	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.R199S|ATP6AP2_uc011mkm.1_Missense_Mutation_p.R243S|ATP6AP2_uc011mkn.1_Missense_Mutation_p.R197S|ATP6AP2_uc004deu.1_Missense_Mutation_p.R140S	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	275	Extracellular (Potential).				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				0						CCCTCATTAGGAAGACAAGGA	0.358													C	40460100	G	C	40460100	3	2	212	1	0	0	0	0	1	0	0	0	1167	1165	41	5	855	5	ATP6AP2	23	40460100	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	4639331	40460100	114810460	354	112792											
MED14	9282	broad.mit.edu	37	chrX	40552032	40552032	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagtcctgaatgttttccttGaactgctgcagcagcaatgc	9	10	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:40552032G>C	uc004dex.3	-	14	1913	c.1773C>G	c.(1771-1773)TTC>TTG	p.F591L		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	591	Interaction with SREBF1.				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(2)|kidney(1)|skin(1)	4						TGTTTTCCTTGAACTGCTGCA	0.448													C	40552032	G	C	40552032	3	2	212	1	0	0	0	0	1	0	0	0	9432	1281	45	5	2663	5	MED14	23	40552032	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	91932	40552032	114718528	355	112793											
USP11	8237	broad.mit.edu	37	chrX	47104478	47104478	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgttactatgacgaggtagAggctgaggtaaatgagatcc	14	6	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:47104478A>T	uc004dhp.2	+	16	2279	c.2279A>T	c.(2278-2280)GAG>GTG	p.E760V	USP11_uc004dhq.2_Missense_Mutation_p.E486V	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	760					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GACGAGGTAGAGGCTGAGGTA	0.562													T	47104478	A	T	47104478	3	4	212	1	0	0	0	0	1	0	0	0	17039	304	11	5	2341	5	USP11	23	47104478	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	6552446	47104478	108166082	356	112794											
SYN1	6853	broad.mit.edu	37	chrX	47434138	47434138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgggctgctgggaggTctggcggcccaagggcaggg	20	12	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:47434138T>C	uc004die.2	-	11	1471	c.1342A>G	c.(1342-1344)ACC>GCC	p.T448A	SYN1_uc004did.2_Missense_Mutation_p.T448A	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	448	D; Pro-rich linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						TGCTGGGAGGTCTGGCGGCCC	0.677													C	47434138	T	C	47434138	3	2	212	1	0	0	0	0	1	0	0	0	15437	1667	58	3	787	3	SYN1	23	47434138	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	329660	47434138	107836422	357	112795											
ZNF81	347344	broad.mit.edu	37	chrX	47775719	47775719	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaccctatgtttgtgctgaTtgtgggagggccttcatcca	11	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:47775719T>A	uc010nhy.1	+	6	2042	c.1674T>A	c.(1672-1674)GAT>GAA	p.D558E		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	558	C2H2-type 9.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				TTTGTGCTGATTGTGGGAGGG	0.423													A	47775719	T	A	47775719	3	1	212	1	0	0	0	0	1	0	0	0	18171	1490	52	5	1688	5	ZNF81	23	47775719	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	341581	47775719	107494841	358	112796											
IQSEC2	23096	broad.mit.edu	37	chrX	53265548	53265548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgctgagtgcgccccgtTtgagcccatcgcctgccccg	11	17	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:53265548T>G	uc004dsd.2	-	13	3608	c.3407A>C	c.(3406-3408)AAA>ACA	p.K1136T	IQSEC2_uc004dsc.2_Missense_Mutation_p.K931T	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	1126					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TGCGCCCCGTTTGAGCCCATC	0.657													G	53265548	T	G	53265548	3	3	212	1	0	0	0	0	1	0	0	0	7818	1841	64	5	1071	5	IQSEC2	23	53265548	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	5489829	53265548	102005012	359	112797											
ALAS2	212	broad.mit.edu	37	chrX	55041235	55041235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggcccctgtccatgAgtagctggcgcatgtgcttg	14	11	0	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:55041235A>C	uc004dua.3	-	9	1520	c.1382T>G	c.(1381-1383)CTC>CGC	p.L461R	ALAS2_uc004dub.3_Missense_Mutation_p.L448R|ALAS2_uc004dud.3_Missense_Mutation_p.L424R	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	461					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			ovary(1)	1					Glycine(DB00145)	CCTGTCCATGAGTAGCTGGCG	0.607													C	55041235	A	C	55041235	3	2	212	1	0	0	0	0	1	0	0	0	485	304	11	5	393	5	ALAS2	23	55041235	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	1775687	55041235	100229325	360	112798											
LAS1L	81887	broad.mit.edu	37	chrX	64738169	64738169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacccgaagctggagctgGctggcttgacgctccaatac	12	13	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:64738169G>A	uc004dwa.1	-	12	1697	c.1625C>T	c.(1624-1626)GCC>GTC	p.A542V	LAS1L_uc004dwc.1_Missense_Mutation_p.A525V|LAS1L_uc004dwd.1_Missense_Mutation_p.A483V|LAS1L_uc004dvy.1_Missense_Mutation_p.A55V|LAS1L_uc004dvz.1_Missense_Mutation_p.A55V	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	542						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						GCTGGAGCTGGCTGGCTTGAC	0.552													A	64738169	G	A	64738169	3	1	212	1	0	0	0	0	1	0	0	0	8636	1203	42	2	591	2	LAS1L	23	64738169	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	9696934	64738169	90532391	361	112799											
CXorf65	158830	broad.mit.edu	37	chrX	70323883	70323883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagttggcgacctttattcTtcctgaagtctggtctgttc	10	9	3	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:70323883T>G	uc011mpo.1	-	6	520	c.506A>C	c.(505-507)AAG>ACG	p.K169T	CXorf65_uc011mpp.1_Missense_Mutation_p.K121T	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	169										central_nervous_system(1)	1						ACCTTTATTCTTCCTGAAGTC	0.383													G	70323883	T	G	70323883	3	3	212	1	0	0	0	0	1	0	0	0	4117	1609	56	5	49	5	CXorf65	23	70323883	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	5585714	70323883	84946677	362	112800											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70523493	70523493	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtttaccaaggccctgAgagtgatgctactccatgta	10	9	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:70523493A>T	uc004dzr.1	+	7	514	c.485A>T	c.(484-486)GAG>GTG	p.E162V	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.E144V	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	162	Cys-rich.|CHORD 2.				muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					CAAGGCCCTGAGAGTGATGCT	0.512													T	70523493	A	T	70523493	3	4	212	1	0	0	0	0	1	0	0	0	7892	304	11	5	511	5	ITGB1BP2	23	70523493	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	199610	70523493	84747067	363	112801											
NHSL2	340527	broad.mit.edu	37	chrX	71360037	71360037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctccggtggcccggaGgcctccaagcttggtccaca	13	15	0	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:71360037G>A	uc011mqa.1	+	6	2639	c.2639G>A	c.(2638-2640)AGG>AAG	p.R880K	NHSL2_uc004eak.1_Missense_Mutation_p.R514K|NHSL2_uc010nli.2_Missense_Mutation_p.R649K	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	880											0	Renal(35;0.156)					GTGGCCCGGAGGCCTCCAAGC	0.557													A	71360037	G	A	71360037	3	1	212	1	0	0	0	0	1	0	0	0	10412	1000	35	4	2661	4	NHSL2	23	71360037	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	836544	71360037	83910523	364	112802											
NHSL2	340527	broad.mit.edu	37	chrX	71360088	71360088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctgaggagtatgcacTaacttcaccaaccttggcta	8	11	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:71360088T>C	uc011mqa.1	+	6	2690	c.2690T>C	c.(2689-2691)CTA>CCA	p.L897P	NHSL2_uc004eak.1_Missense_Mutation_p.L531P|NHSL2_uc010nli.2_Missense_Mutation_p.L666P	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	897											0	Renal(35;0.156)					GAGTATGCACTAACTTCACCA	0.562													C	71360088	T	C	71360088	3	2	212	1	0	0	0	0	1	0	0	0	10412	1522	53	3	2712	3	NHSL2	23	71360088	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	51	71360088	83910472	365	112803											
NAP1L2	4674	broad.mit.edu	37	chrX	72433801	72433801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacacatttcctcatcAtcacagtcctcagagtctga	5	13	6	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:72433801A>G	uc004ebi.2	-	1	884	c.528T>C	c.(526-528)GAT>GAC	p.D176D	NAP1L2_uc011mqj.1_Silent_p.D34D	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	176	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					TTTCCTCATCATCACAGTCCT	0.383													G	72433801	A	G	72433801	2	3	212	1	0	0	0	0	0	0	0	1	10157	214	8	3		3	NAP1L2	23	72433801	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	1073713	72433801	82836759	366	112804											
RLIM	51132	broad.mit.edu	37	chrX	73812036	73812036	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggttctcacacctgcccGctcagaacgtgaaaatgtac	8	12	2	2	rs61754467		TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:73812036G>T	uc004ebu.2	-	5	1404	c.1114C>A	c.(1114-1116)CGG>AGG	p.R372R	RLIM_uc004ebw.2_Silent_p.R372R	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	372					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			ovary(2)	2						ACACCTGCCCGCTCAGAACGT	0.443													T	73812036	G	T	73812036	2	4	212	1	0	0	0	0	0	0	0	1	13390	1086	38	5		5	RLIM	23	73812036	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	1378235	73812036	81458524	367	112805											
KIAA2022	340533	broad.mit.edu	37	chrX	73963244	73963244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcctctttgcctttcTtcttgtccaagtttttatct	4	12	4	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:73963244T>C	uc004eby.2	-	3	1765	c.1148A>G	c.(1147-1149)AAG>AGG	p.K383R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	383					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						TTTGCCTTTCTTCTTGTCCAA	0.453													C	73963244	T	C	73963244	3	2	212	1	0	0	0	0	1	0	0	0	8269	1609	56	3	3410	3	KIAA2022	23	73963244	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	151208	73963244	81307316	368	112806											
ATRX	546	broad.mit.edu	37	chrX	76918897	76918897	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtttctgcctttgactTctttatgctctttaggcttt	6	9	4	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:76918897T>G	uc004ecp.3	-	12	4326	c.4094A>C	c.(4093-4095)GAA>GCA	p.E1365A	ATRX_uc004ecq.3_Missense_Mutation_p.E1327A|ATRX_uc004eco.3_Missense_Mutation_p.E1150A|ATRX_uc004ecr.2_Missense_Mutation_p.E1297A	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1365					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GCCTTTGACTTCTTTATGCTC	0.323			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76918897	T	G	76918897	3	3	212	1	0	0	0	0	1	0	0	0	1208	1783	62	5	3480	5	ATRX	23	76918897	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	2955653	76918897	78351663	369	112807											
ATRX	546	broad.mit.edu	37	chrX	76939970	76939970	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaataccattggttgtTttcatccattattgtggaca	8	7	1	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:76939970T>G	uc004ecp.3	-	9	1010	c.778A>C	c.(778-780)AAC>CAC	p.N260H	ATRX_uc004ecq.3_Missense_Mutation_p.N222H|ATRX_uc004eco.3_Missense_Mutation_p.N45H|ATRX_uc004ecr.2_Missense_Mutation_p.N221H|ATRX_uc010nlx.1_Missense_Mutation_p.N260H|ATRX_uc010nly.1_Missense_Mutation_p.N205H	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	260	ADD.|PHD-type; atypical.				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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CATTGGTTGTTTTCATCCATT	0.403			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76939970	T	G	76939970	3	3	212	1	0	0	0	0	1	0	0	0	1208	1841	64	5	6808	5	ATRX	23	76939970	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	21073	76939970	78330590	370	112808											
CHM	1121	broad.mit.edu	37	chrX	85155675	85155675	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatctgaatctgtttttagGacagatctatctgtaatcag	8	6	5	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:85155675G>A	uc004eet.2	-	11	1419	c.1389C>T	c.(1387-1389)GTC>GTT	p.V463V	CHM_uc011mqz.1_Silent_p.V315V	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	463					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				CTGTTTTTAGGACAGATCTAT	0.269													A	85155675	G	A	85155675	2	1	212	1	0	0	0	0	0	0	0	1	3350	1161	41	4		4	CHM	23	85155675	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	8215705	85155675	70114885	371	112809											
PCDH11X	27328	broad.mit.edu	37	chrX	91132001	91132001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaaggagacagagatTgaagtcagtataccagaaaa	10	5	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:91132001T>G	uc004efk.1	+	2	1607	c.762T>G	c.(760-762)ATT>ATG	p.I254M	PCDH11X_uc004efl.1_Missense_Mutation_p.I254M|PCDH11X_uc004efo.1_Missense_Mutation_p.I254M|PCDH11X_uc010nmv.1_Missense_Mutation_p.I254M|PCDH11X_uc004efm.1_Missense_Mutation_p.I254M|PCDH11X_uc004efn.1_Missense_Mutation_p.I254M|PCDH11X_uc004efh.1_Missense_Mutation_p.I254M|PCDH11X_uc004efj.1_Missense_Mutation_p.I254M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	254	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						AGACAGAGATTGAAGTCAGTA	0.433													G	91132001	T	G	91132001	3	3	212	1	0	0	0	0	1	0	0	0	11508	1800	63	5	768	5	PCDH11X	23	91132001	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	5976326	91132001	64138559	372	112810											
PCDH11X	27328	broad.mit.edu	37	chrX	91873823	91873823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttacaccatgtctgaaAgacttcatcccagtgatgat	7	9	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:91873823A>G	uc004efk.1	+	7	4773	c.3928A>G	c.(3928-3930)AGA>GGA	p.R1310G	PCDH11X_uc004efl.1_Missense_Mutation_p.R1300G|PCDH11X_uc004efo.1_Missense_Mutation_p.R1273G|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.R1302G|PCDH11X_uc004efn.1_Missense_Mutation_p.R1292G	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1310	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CATGTCTGAAAGACTTCATCC	0.483													G	91873823	A	G	91873823	3	3	212	1	0	0	0	0	1	0	0	0	11508	64	3	3	4076	3	PCDH11X	23	91873823	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	741822	91873823	63396737	373	112811											
TCEAL3	85012	broad.mit.edu	37	chrX	102864315	102864315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaagattatgtgccccGgaaagcaaaaagaaaaacgg	12	7	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:102864315G>A	uc004ekq.2	+	3	585	c.323G>A	c.(322-324)CGG>CAG	p.R108Q	TCEAL3_uc004ekr.2_Missense_Mutation_p.R108Q	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TATGTGCCCCGGAAAGCAAAA	0.597													A	102864315	G	A	102864315	3	1	212	1	0	0	0	0	1	0	0	0	15669	1116	39	1	325	1	TCEAL3	23	102864315	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	10990492	102864315	52406245	374	112812											
RAB9B	51209	broad.mit.edu	37	chrX	103080330	103080330	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtagtcacttgcctatcctCtttgtctaccttgttaccca	5	13	3	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:103080330C>A	uc004ell.1	-	3	670	c.385G>T	c.(385-387)GAG>TAG	p.E129*	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	129					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						TGCCTATCCTCTTTGTCTACC	0.433													A	103080330	C	A	103080330	4	1	212	1	0	0	0	0	0	1	0	0	12959	922	32	5	224	5	RAB9B	23	103080330	Nonsense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	216015	103080330	52190230	375	112813											
FAM199X	139231	broad.mit.edu	37	chrX	103431172	103431172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtatctgagtcggaaagTgagtactgagatgggtcttc	14	5	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:103431172T>C	uc004elw.2	+	4	765	c.599T>C	c.(598-600)GTG>GCG	p.V200A	FAM199X_uc004elx.2_Missense_Mutation_p.V17A	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	200										ovary(1)	1						AGTCGGAAAGTGAGTACTGAG	0.333													C	103431172	T	C	103431172	3	2	212	1	0	0	0	0	1	0	0	0	5530	1696	59	3	613	3	FAM199X	23	103431172	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	350842	103431172	51839388	376	112814											
MUM1L1	139221	broad.mit.edu	37	chrX	105450489	105450489	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaggaagaaggtcaagcctCtgacaagtcattgcttccaa	10	9	3	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:105450489C>A	uc004emf.1	+	4	1713	c.1064C>A	c.(1063-1065)TCT>TAT	p.S355Y	MUM1L1_uc004emg.1_Missense_Mutation_p.S355Y	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	355										ovary(2)|pancreas(1)|skin(1)	4						GGTCAAGCCTCTGACAAGTCA	0.388													A	105450489	C	A	105450489	3	1	212	1	0	0	0	0	1	0	0	0	9986	913	32	5	1066	5	MUM1L1	23	105450489	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	2019317	105450489	49820071	377	112815											
ATG4A	115201	broad.mit.edu	37	chrX	107396918	107396918	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtttgatctggaggaAgattttgagattctgagtgt	15	2	2	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:107396918A>C	uc004enr.2	+	13	1296	c.1173A>C	c.(1171-1173)GAA>GAC	p.E391D	ATG4A_uc004ent.2_Missense_Mutation_p.E329D|ATG4A_uc004ens.2_Missense_Mutation_p.E307D|ATG4A_uc011msl.1_Missense_Mutation_p.E245D|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.E307D|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	391					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						ATCTGGAGGAAGATTTTGAGA	0.388													C	107396918	A	C	107396918	3	2	212	1	0	0	0	0	1	0	0	0	1096	69	3	5	1223	5	ATG4A	23	107396918	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	1946429	107396918	47873642	378	112816											
GUCY2F	2986	broad.mit.edu	37	chrX	108652293	108652293	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatttgtcagtatgtcTtctaggctccctcgggaaca	9	10	4	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:108652293T>G	uc004eod.3	-	9	2172	c.1896A>C	c.(1894-1896)GAA>GAC	p.E632D	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	632	Protein kinase.|Cytoplasmic (Potential).				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			lung(4)|breast(3)|central_nervous_system(1)	8						TCAGTATGTCTTCTAGGCTCC	0.408													G	108652293	T	G	108652293	3	3	212	1	0	0	0	0	1	0	0	0	6898	1606	56	5	1474	5	GUCY2F	23	108652293	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1255375	108652293	46618267	379	112817											
DOCK11	139818	broad.mit.edu	37	chrX	117700536	117700536	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcttttaatgaatttgcaGatgatgaaactagcagccaa	8	7	0	4			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:117700536G>A	uc004eqp.2	+	9	935	c.872_splice	c.e9-1	p.D291_splice	DOCK11_uc004eqq.2_Splice_Site_p.D57_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3						TGAATTTGCAGATGATGAAAC	0.413													A	117700536	G	A	117700536	5	1	212	1	0	0	0	0	0	0	1	0	4686	956	33	4	905	4	DOCK11	23	117700536	Splice_Site	SNP	G	TCGA-D7-6528-01A-11D-1800-08	9048243	117700536	37570024	380	112818											
CXorf56	63932	broad.mit.edu	37	chrX	118694316	118694316	+	Frame_Shift_Del	DEL	G	G	-													aatcacacgggaccggtcccGgggcctcatgggcaatttct							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:118694316delG	uc004erk.1	-	2	203	c.157delC	c.(157-159)CGGfs	p.R53fs	CXorf56_uc004erj.1_Frame_Shift_Del_p.R4fs|CXorf56_uc011mtu.1_Frame_Shift_Del_p.R53fs	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	53							protein binding				0						GACCGGTCCCGGGGCCTCATG	0.463													-	118694316	G	-	118694316	7	5	212	1	0	1	0	1	0	0	0	0	4112	1115	39	0	535	0	CXorf56	23	118694316	Frame_Shift_Del	DEL	G	TCGA-D7-6528-01A-11D-1800-08	993780	118694316	36576244	381	112819											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760555	119760556	+	Frame_Shift_Ins	INS	-	-	C													atccttttttaacaaaaaatINSactttaggttttcaatgata							TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:119760554_119760555A>AC	uc022cdo.1	-	0	467_468	c.467_468T>GT	c.(466-468)tatfs	p.Y156fs	C1GALT1C1_uc004esy.3_Frame_Shift_Ins_p.Y156fs|C1GALT1C1_uc004esz.3_Frame_Shift_Ins_p.Y156fs	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA.	156						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TTAACAAAAAATACTTTAGGTT	0.376													C	119760556	-	C	119760555	7	5	212	1	0	1	1	0	0	0	0	0	1953	1406	49	0	493	0	C1GALT1C1	23	119760555	Frame_Shift_Ins	INS	-	TCGA-D7-6528-01A-11D-1800-08	1066239	119760555	35510005	382	112820											
GLUD2	2747	broad.mit.edu	37	chrX	120182817	120182817	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaacattttggttattccaGatctctacttgaatgctgga	8	7	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:120182817G>T	uc004eto.2	+	1	1356	c.1279G>T	c.(1279-1281)GAT>TAT	p.D427Y		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	427					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGTTATTCCAGATCTCTACTT	0.428													T	120182817	G	T	120182817	3	4	212	1	0	0	0	0	1	0	0	0	6477	942	33	5	1281	5	GLUD2	23	120182817	Missense_Mutation	SNP	G	TCGA-D7-6528-01A-11D-1800-08	422262	120182817	35087743	383	112821											
ODZ1	10178	broad.mit.edu	37	chrX	123540219	123540219	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcaagttggttgacatgagGacattttcacggttggaagt	13	5	2	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:123540219G>T	uc004euj.2	-	25	5146	c.5082C>A	c.(5080-5082)GTC>GTA	p.V1694V	ODZ1_uc011muj.1_Silent_p.V1700V|ODZ1_uc010nqy.2_Silent_p.V1701V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1694	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTGACATGAGGACATTTTCAC	0.438													T	123540219	G	T	123540219	2	4	212	1	0	0	0	0	0	0	0	1	10834	1161	41	5		5	ODZ1	23	123540219	Silent	SNP	G	TCGA-D7-6528-01A-11D-1800-08	3357402	123540219	31730341	384	112822											
ODZ1	10178	broad.mit.edu	37	chrX	123775705	123775705	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actccagcgtccagaagaaaAgttccgtgtcctgagcactg	10	12	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:123775705A>C	uc004euj.2	-	11	2077	c.2013T>G	c.(2011-2013)ACT>ACG	p.T671T	ODZ1_uc011muj.1_Silent_p.T670T|ODZ1_uc010nqy.2_Silent_p.T671T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	671	EGF-like 5.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CCAGAAGAAAAGTTCCGTGTC	0.478													C	123775705	A	C	123775705	2	2	212	1	0	0	0	0	0	0	0	1	10834	59	3	5		5	ODZ1	23	123775705	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	235486	123775705	31494855	385	112823											
BCORL1	63035	broad.mit.edu	37	chrX	129159091	129159091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaggtgagaaagacccAacgggacacccagtatcgca	11	11	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:129159091A>G	uc004evb.1	+	7	3929	c.3815A>G	c.(3814-3816)CAA>CGA	p.Q1272R	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.Q34R	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1272					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						AGAAAGACCCAACGGGACACC	0.592													G	129159091	A	G	129159091	3	3	212	1	0	0	0	0	1	0	0	0	1387	130	5	3	3837	3	BCORL1	23	129159091	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	5383386	129159091	26111469	386	112824											
PLAC1	10761	broad.mit.edu	37	chrX	133700336	133700336	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctactctcatggagcagggcTtggtgagccatggggacttt	14	9	1	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:133700336T>A	uc004exo.1	-	3	663	c.377A>T	c.(376-378)AAG>ATG	p.K126M	PLAC1_uc004exp.1_Missense_Mutation_p.K126M	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1 precursor	126					placenta development	extracellular region				pancreas(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GGAGCAGGGCTTGGTGAGCCA	0.537													A	133700336	T	A	133700336	3	1	212	1	0	0	0	0	1	0	0	0	12012	1609	56	5	265	5	PLAC1	23	133700336	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	4541245	133700336	21570224	387	112825											
LDOC1	23641	broad.mit.edu	37	chrX	140271010	140271010	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgccgtctgcacgataaacTcggggagccgggagctctcg	14	13	2	0			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:140271010T>A	uc004fbj.2	-	1	301	c.197A>T	c.(196-198)GAG>GTG	p.E66V		NM_012317	NP_036449	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	66					negative regulation of cell proliferation	nucleus	protein binding				0	Acute lymphoblastic leukemia(192;7.65e-05)					CACGATAAACTCGGGGAGCCG	0.617													A	140271010	T	A	140271010	3	1	212	1	0	0	0	0	1	0	0	0	8709	1551	54	5	247	5	LDOC1	23	140271010	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	6570674	140271010	14999550	388	112826											
AFF2	2334	broad.mit.edu	37	chrX	147743468	147743468	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaccgagtccagaacAcgcttggaaactatgatgaa	9	10	0	3			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:147743468A>T	uc004fcp.2	+	3	699	c.220A>T	c.(220-222)ACG>TCG	p.T74S	AFF2_uc004fco.2_Missense_Mutation_p.T70S|AFF2_uc004fcq.2_Missense_Mutation_p.T70S|AFF2_uc004fcr.2_Missense_Mutation_p.T70S|AFF2_uc011mxb.1_Missense_Mutation_p.T74S|AFF2_uc004fcs.2_Missense_Mutation_p.T70S	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	74					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCAGAACACGCTTGGAAA	0.403													T	147743468	A	T	147743468	3	4	212	1	0	0	0	0	1	0	0	0	357	159	6	5	230	5	AFF2	23	147743468	Missense_Mutation	SNP	A	TCGA-D7-6528-01A-11D-1800-08	7472458	147743468	7527092	389	112827											
IDS	3423	broad.mit.edu	37	chrX	148586601	148586601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtttcggatccgagggCgacgcagacggagctcagaa	15	11	1	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:148586601C>T	uc011mxe.1	-	1	265	c.67G>A	c.(67-69)GCC>ACC	p.A23T	IDS_uc011mxf.1_5'UTR|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Missense_Mutation_p.A23T|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Missense_Mutation_p.A23T	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	23						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATCCGAGGGCGACGCAGACG	0.527													T	148586601	C	T	148586601	3	4	212	1	0	0	0	0	1	0	0	0	7503	768	27	1	1651	1	IDS	23	148586601	Missense_Mutation	SNP	C	TCGA-D7-6528-01A-11D-1800-08	843133	148586601	6683959	390	112828											
MECP2	4204	broad.mit.edu	37	chrX	153296057	153296057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagacgctgctgctcaAgtcctggggctcaggggggc	16	11	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:153296057A>G	uc004fjv.2	-	4	1448	c.1222T>C	c.(1222-1224)TTG>CTG	p.L408L	MECP2_uc004fjw.2_Silent_p.L420L	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	408					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				0	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)					CTGCTGCTCAAGTCCTGGGGC	0.682													G	153296057	A	G	153296057	2	3	212	1	0	0	0	0	0	0	0	1	9423	69	3	3		3	MECP2	23	153296057	Silent	SNP	A	TCGA-D7-6528-01A-11D-1800-08	4709456	153296057	1974503	391	112829											
GDI1	2664	broad.mit.edu	37	chrX	153668347	153668347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgtttgtggcaaacTtcgatgagaatgaccccaag	11	9	0	2			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:153668347T>C	uc004fli.3	+	5	790	c.448T>C	c.(448-450)TTC>CTC	p.F150L	GDI1_uc011mzo.1_Missense_Mutation_p.F150L|GDI1_uc004flj.2_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	150				NFD -> GTY (in Ref. 2; BAA08078).	protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	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)					TGTGGCAAACTTCGATGAGAA	0.542													C	153668347	T	C	153668347	3	2	212	1	0	0	0	0	1	0	0	0	6320	1609	56	3	466	3	GDI1	23	153668347	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	372290	153668347	1602213	392	112830											
VAMP7	6845	broad.mit.edu	37	chrX	155127890	155127890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccatgaatagcgagttcTcaagtgtcttagctgcacag	10	9	2	1			TCGA-D7-6528-01A-11D-1800-08	TCGA-D7-6528-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	153a64ee-6322-4f2e-b3df-77ef7d3a4cf0	c7abc1e5-aa3a-44df-bfca-490332206b15	g.chrX:155127890T>C	uc004fnr.2	+	4	493	c.319T>C	c.(319-321)TCA>CCA	p.S107P	VAMP7_uc004fnt.2_Missense_Mutation_p.S66P|VAMP7_uc011naa.1_Missense_Mutation_p.S68P|VAMP7_uc011nab.1_Missense_Mutation_p.S6P|VAMP7_uc004fns.2_Missense_Mutation_p.S107P|VAMP7_uc011nac.1_Missense_Mutation_p.S40P	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	107	Longin.|Cytoplasmic (Potential).				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding				0	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)					TAGCGAGTTCTCAAGTGTCTT	0.408													C	155127890	T	C	155127890	3	2	212	1	0	0	0	0	1	0	0	0	17114	1551	54	3	329	3	VAMP7	23	155127890	Missense_Mutation	SNP	T	TCGA-D7-6528-01A-11D-1800-08	1459543	155127890	142670	393	112831											
KIF1B	23095	broad.mit.edu	37	chr1	10399860	10399860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgaagcattctccacGgagcccctcaaaaacaatgg	8	12	2	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:10399860G>A	uc001aqx.3	+	32	3658	c.3456G>A	c.(3454-3456)ACG>ACA	p.T1152T	KIF1B_uc001aqw.3_Silent_p.T1106T|KIF1B_uc001aqy.2_Silent_p.T1126T|KIF1B_uc001aqz.2_Silent_p.T1152T|KIF1B_uc001ara.2_Silent_p.T1112T|KIF1B_uc001arb.2_Silent_p.T1138T	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1152					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		CATTCTCCACGGAGCCCCTCA	0.393													A	10399860	G	A	10399860	2	1	213	1	0	0	0	0	0	0	0	1	8284	1103	39	1		1	KIF1B	1	10399860	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08		10399860	238850761	1	112832											
DFFA	1676	broad.mit.edu	37	chr1	10527292	10527292	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgatgctggacagatcttcTttcagctgcctggccacatt	9	11	3	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:10527292T>A	uc001arj.2	-	3	494	c.396A>T	c.(394-396)AAA>AAT	p.K132N	DFFA_uc001ark.2_Missense_Mutation_p.K132N	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	132					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	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;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		ACAGATCTTCTTTCAGCTGCC	0.537													A	10527292	T	A	10527292	3	1	213	1	0	0	0	0	1	0	0	0	4452	1606	56	5	639	5	DFFA	1	10527292	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	127432	10527292	238723329	2	112833											
NPPA	4878	broad.mit.edu	37	chr1	11907410	11907410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggctgagagcagccccCgcttcttcattcggctcact	12	14	3	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:11907410C>T	uc001ati.2	-	2	309	c.210G>A	c.(208-210)GCG>GCA	p.A70A	CLCN6_uc010oav.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oaz.1_Intron|CLCN6_uc010oba.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	70					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	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;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)		GAGCAGCCCCCGCTTCTTCAT	0.592													T	11907410	C	T	11907410	2	4	213	1	0	0	0	0	0	0	0	1	10591	639	23	1		1	NPPA	1	11907410	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	1380118	11907410	237343211	3	112834											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835687	12835687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcttttacccacaggCggtggaaacttcaagtgttg	9	10	3	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:12835687C>T	uc001aui.2	+	2	316	c.289C>T	c.(289-291)CGG>TGG	p.R97W		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	97										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		TACCCACAGGCGGTGGAAACT	0.517													T	12835687	C	T	12835687	3	4	213	1	0	0	0	0	1	0	0	0	12428	782	27	1	295	1	PRAMEF12	1	12835687	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	928277	12835687	236414934	4	112835											
SLC25A34	284723	broad.mit.edu	37	chr1	16064477	16064477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggccgtgggacaccaGcacaatcaccaggtgaggcc	14	13	1	1	rs12025441		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:16064477G>A	uc001axb.1	+	2	604	c.432G>A	c.(430-432)CAG>CAA	p.Q144Q	SLC25A34_uc009vok.1_5'Flank	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	144	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGACACCAGCACAATCACC	0.642													A	16064477	G	A	16064477	2	1	213	1	0	0	0	0	0	0	0	1	14498	962	34	2		2	SLC25A34	1	16064477	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	3228790	16064477	233186144	5	112836											
ZNF362	149076	broad.mit.edu	37	chr1	33747303	33747303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaagtcctttgccaacGcctcctacctggcccagcac	7	19	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:33747303G>A	uc001bxc.1	+	6	969	c.799G>A	c.(799-801)GCC>ACC	p.A267T		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	267	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTTGCCAACGCCTCCTACCT	0.592													A	33747303	G	A	33747303	3	1	213	1	0	0	0	0	1	0	0	0	17865	1087	38	1	817	1	ZNF362	1	33747303	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	17682826	33747303	215503318	6	112837											
COL8A2	1296	broad.mit.edu	37	chr1	36563353	36563353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgtaggtataggtggcCggcacgttgttcttgtacag	13	8	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:36563353C>T	uc001bzv.1	-	2	1936	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	COL8A2_uc001bzw.1_Silent_p.P578P	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	643	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TATAGGTGGCCGGCACGTTGT	0.602													T	36563353	C	T	36563353	2	4	213	1	0	0	0	0	0	0	0	1	3706	639	23	1		1	COL8A2	1	36563353	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	2816050	36563353	212687268	7	112838											
KDM4A	9682	broad.mit.edu	37	chr1	44137280	44137280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgccttggatctttctGtgaatcctgcgtctgtaggg	12	10	3	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:44137280G>A	uc001cjx.2	+	11	1634	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	490					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			skin(1)	1						GGATCTTTCTGTGAATCCTGC	0.468													A	44137280	G	A	44137280	3	1	213	1	0	0	0	0	1	0	0	0	8128	1377	48	4	1506	4	KDM4A	1	44137280	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	7573927	44137280	205113341	8	112839											
CACHD1	57685	broad.mit.edu	37	chr1	65139147	65139147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattcaacaccagccttgcGgtaagttgatctgattcctt	7	10	2	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:65139147G>A	uc001dbo.1	+	19	2679	c.2574G>A	c.(2572-2574)GCG>GCA	p.A858A	CACHD1_uc001dbp.1_Silent_p.A613A|CACHD1_uc001dbq.1_Silent_p.A613A|CACHD1_uc010opa.1_Silent_p.A102A	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	909	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						CCAGCCTTGCGGTAAGTTGAT	0.398													A	65139147	G	A	65139147	2	1	213	1	0	0	0	0	0	0	0	1	2537	1130	39	1		1	CACHD1	1	65139147	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	21001867	65139147	184111474	9	112840											
ANKRD35	148741	broad.mit.edu	37	chr1	145560139	145560139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactgctcctgagccacGgagctgacgcgggggctgtg	16	12	0	3	rs150487019	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:145560139G>A	uc001eob.1	+	8	733	c.625G>A	c.(625-627)GGA>AGA	p.G209R	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.G52R	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	209	ANK 5.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGAGCCACGGAGCTGACGC	0.582													A	145560139	G	A	145560139	3	1	213	1	0	0	0	0	1	0	0	0	664	1117	39	1	655	1	ANKRD35	1	145560139	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	80420992	145560139	103690482	10	112841											
FLG	2312	broad.mit.edu	37	chr1	152279018	152279018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgaatggtgtcctgacCgtcttgggatgctgagtgcc	13	11	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:152279018C>T	uc001ezu.1	-	3	8380	c.8344G>A	c.(8344-8346)GGT>AGT	p.G2782S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2782	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCGTCTTGGGAT	0.602									Ichthyosis				T	152279018	C	T	152279018	3	4	213	1	0	0	0	0	1	0	0	0	5922	652	23	1	3845	1	FLG	1	152279018	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	6718879	152279018	96971603	11	112842											
FAM189B	10712	broad.mit.edu	37	chr1	155223695	155223695	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtggagttaggggcaacTttcagttcctgccccgactc	12	12	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:155223695T>G	uc001fjm.2	-	4	1074	c.468A>C	c.(466-468)AAA>AAC	p.K156N	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Missense_Mutation_p.K137N|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Missense_Mutation_p.K156N	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	156						integral to membrane	WW domain binding			ovary(1)|breast(1)	2						TAGGGGCAACTTTCAGTTCCT	0.607													G	155223695	T	G	155223695	3	3	213	1	0	0	0	0	1	0	0	0	5517	1606	56	5	1574	5	FAM189B	1	155223695	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	2944677	155223695	94026926	12	112843											
SMG5	23381	broad.mit.edu	37	chr1	156236454	156236454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaaggcaatggctgcaCtgtactgcttggatcctgaa	14	8	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:156236454C>T	uc001foc.3	-	11	1282	c.1133G>A	c.(1132-1134)AGT>AAT	p.S378N	SMG5_uc009wrv.2_5'Flank	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	378					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AATGGCTGCACTGTACTGCTT	0.557													T	156236454	C	T	156236454	3	4	213	1	0	0	0	0	1	0	0	0	14796	565	20	4	1965	4	SMG5	1	156236454	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	1012759	156236454	93014167	13	112844											
ATP1A2	477	broad.mit.edu	37	chr1	160099970	160099970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagagcgcattctggacCggtgctccaccatcctggtg	11	16	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:160099970C>T	uc001fvc.2	+	12	1672	c.1540C>T	c.(1540-1542)CGG>TGG	p.R514W	ATP1A2_uc001fvb.2_Missense_Mutation_p.R514W|ATP1A2_uc001fvd.2_Missense_Mutation_p.R250W|ATP1A2_uc009wtg.1_Missense_Mutation_p.R202W	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	514	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			CATTCTGGACCGGTGCTCCAC	0.587													T	160099970	C	T	160099970	3	4	213	1	0	0	0	0	1	0	0	0	1129	643	23	1	1586	1	ATP1A2	1	160099970	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	3863516	160099970	89150651	14	112845											
ILDR2	387597	broad.mit.edu	37	chr1	166891981	166891981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgcttctcatctgatGgaaagactggcggaaattgc	11	9	2	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:166891981G>A	uc001gdx.1	-	8	1116	c.1060C>T	c.(1060-1062)CAT>TAT	p.H354Y		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	354	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						CTCATCTGATGGAAAGACTGG	0.517													A	166891981	G	A	166891981	3	1	213	1	0	0	0	0	1	0	0	0	7710	1348	47	4	871	4	ILDR2	1	166891981	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	6792011	166891981	82358640	15	112846											
CACNA1E	777	broad.mit.edu	37	chr1	181732633	181732633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcagggctataccatacGcattttgctgtggacctttg	11	10	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:181732633G>A	uc001gow.2	+	34	4946	c.4781G>A	c.(4780-4782)CGC>CAC	p.R1594H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1482H|CACNA1E_uc001gox.1_Missense_Mutation_p.R820H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R820H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1594	Cytoplasmic (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TATACCATACGCATTTTGCTG	0.512													A	181732633	G	A	181732633	3	1	213	1	0	0	0	0	1	0	0	0	2542	1087	38	1	4915	1	CACNA1E	1	181732633	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	14840652	181732633	67517988	16	112847											
PTPN7	5778	broad.mit.edu	37	chr1	202121712	202121712	+	Frame_Shift_Del	DEL	G	G	-													cggggtgggcggctgtctccGggctctcctccacctctgcc							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:202121711_202121711CG>C	uc001gxn.2	-	7	1930	c.834_834CG>G	c.(832-834)ccgfs	p.P278fs	PTPN7_uc001gxl.2_Frame_Shift_Del_p.P317fs|PTPN7_uc001gxm.2_Frame_Shift_Del_p.P383fs|PTPN7_uc010ppx.2_Frame_Shift_Del_p.P352fs|PTPN7_uc010ppw.2_Frame_Shift_Del_p.P226fs|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_Frame_Shift_Del_p.P230fs	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	278	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						CGGCTGTCTCCGGGCTCTCCT	0.657													-	202121712	G	-	202121712	7	5	213	1	0	1	0	1	0	0	0	0	12793	1116	39	0	261	0	PTPN7	1	202121712	Frame_Shift_Del	DEL	G	TCGA-D7-6815-01A-11D-1882-08	20389079	202121712	47128909	17	112848											
PLXNA2	5362	broad.mit.edu	37	chr1	208218522	208218522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgtagttgagtttggCccctccagaggcaggagggc	15	10	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:208218522C>T	uc001hgz.2	-	19	4287	c.3529G>A	c.(3529-3531)GCC>ACC	p.A1177T		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1177	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGAGTTTGGCCCCTCCAGAG	0.438													T	208218522	C	T	208218522	3	4	213	1	0	0	0	0	1	0	0	0	12120	739	26	2	2211	2	PLXNA2	1	208218522	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	6096810	208218522	41032099	18	112849											
OBSCN	84033	broad.mit.edu	37	chr1	228444584	228444584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccggggagtacagctgCgaggcggggagccagcggct	20	11	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:228444584C>T	uc009xez.1	+	15	4586	c.4542C>T	c.(4540-4542)TGC>TGT	p.C1514C	OBSCN_uc001hsn.2_Silent_p.C1514C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1514	Ig-like 15.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTACAGCTGCGAGGCGGGGA	0.647													T	228444584	C	T	228444584	2	4	213	1	0	0	0	0	0	0	0	1	10812	776	27	1		1	OBSCN	1	228444584	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	20226062	228444584	20806037	19	112850											
ACTN2	88	broad.mit.edu	37	chr1	236902618	236902618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcttttggaatggattcGtcgcacgatcccctggctgg	13	11	0	0	rs142482143	byFrequency	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr1:236902618G>A	uc001hyf.2	+	10	1097	c.893G>A	c.(892-894)CGT>CAT	p.R298H	ACTN2_uc001hyg.2_Missense_Mutation_p.R90H|ACTN2_uc009xgi.1_Missense_Mutation_p.R298H|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_5'UTR	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	298	Spectrin 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			ovary(4)|skin(1)	5	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)			GAATGGATTCGTCGCACGATC	0.517													A	236902618	G	A	236902618	3	1	213	1	0	0	0	0	1	0	0	0	205	1145	40	1	931	1	ACTN2	1	236902618	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	8458034	236902618	12348003	20	112851											
PXDN	7837	broad.mit.edu	37	chr2	1670014	1670014	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgatgaaagcggtggcatgGacgctgtcaatgttgttggt	15	5	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:1670014G>C	uc002qxa.2	-	10	1327	c.1263C>G	c.(1261-1263)GTC>GTG	p.V421V	PXDN_uc002qxb.1_Silent_p.V421V|PXDN_uc002qxc.1_Silent_p.V238V	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	421	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	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)		CGGTGGCATGGACGCTGTCAA	0.597													C	1670014	G	C	1670014	2	2	213	1	0	0	0	0	0	0	0	1	12847	1161	41	5		5	PXDN	2	1670014	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08		1670014	241529359	21	112852											
KIDINS220	57498	broad.mit.edu	37	chr2	8870881	8870881	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttctctttcttctccaaagCctgtgctctcagaagaggct	7	12	4	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:8870881C>G	uc002qzc.2	-	30	5467	c.5285G>C	c.(5284-5286)GGC>GCC	p.G1762A	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.G1663A|KIDINS220_uc002qzb.2_Missense_Mutation_p.G616A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1762	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCCAAAGCCTGTGCTCTC	0.438													G	8870881	C	G	8870881	3	3	213	1	0	0	0	0	1	0	0	0	8271	739	26	5	34	5	KIDINS220	2	8870881	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	7200867	8870881	234328492	22	112853											
APOB	338	broad.mit.edu	37	chr2	21230333	21230333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattattgtgtaaggtagaCgcatttcaggaattgttaaa	10	3	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:21230333C>T	uc002red.2	-	26	9535	c.9407G>A	c.(9406-9408)CGT>CAT	p.R3136H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3136					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAAGGTAGACGCATTTCAGG	0.373													T	21230333	C	T	21230333	3	4	213	1	0	0	0	0	1	0	0	0	785	536	19	1	4300	1	APOB	2	21230333	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	12359452	21230333	221969040	23	112854											
CAD	790	broad.mit.edu	37	chr2	27454962	27454962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccgctggttcctgcacCgaatgaagcgtatcatcgca	10	13	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:27454962C>T	uc002rji.2	+	17	2677	c.2515C>T	c.(2515-2517)CGA>TGA	p.R839*	CAD_uc010eyw.2_Nonsense_Mutation_p.R776*	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	839	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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTTCCTGCACCGAATGAAGCG	0.552													T	27454962	C	T	27454962	4	4	213	1	0	0	0	0	0	1	0	0	2565	644	23	1	2581	1	CAD	2	27454962	Nonsense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	6224629	27454962	215744411	24	112855											
C2orf16	84226	broad.mit.edu	37	chr2	27801051	27801051	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccaacccctcaaatggtaGaatatattgagttgactcca	8	10	1	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:27801051G>A	uc002rkz.3	+	1	1663	c.1612G>A	c.(1612-1614)GAA>AAA	p.E538K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	538										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					TCAAATGGTAGAATATATTGA	0.408													A	27801051	G	A	27801051	3	1	213	1	0	0	0	0	1	0	0	0	2157	943	33	4	1614	4	C2orf16	2	27801051	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	346089	27801051	215398322	25	112856											
MEIS1	4211	broad.mit.edu	37	chr2	66670035	66670035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttctgtcataatgtaggTacacgaattatgtgacaatt	7	5	2	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:66670035T>C	uc002sdu.2	+	6	942	c.485T>C	c.(484-486)GTA>GCA	p.V162A	MEIS1_uc002sdt.2_Missense_Mutation_p.V162A|MEIS1_uc002sdv.2_Missense_Mutation_p.V160A|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.V97A|MEIS1_uc002sdw.1_Missense_Mutation_p.V18A	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	162							sequence-specific DNA binding transcription factor activity				0						ATAATGTAGGTACACGAATTA	0.383													C	66670035	T	C	66670035	3	2	213	1	0	0	0	0	1	0	0	0	9467	1652	57	3	507	3	MEIS1	2	66670035	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	38868984	66670035	176529338	26	112857											
TTN	7273	broad.mit.edu	37	chr2	179648873	179648873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctcacccctacttccTttttcacctcaacgccagct	4	17	3	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:179648873T>C	uc010zfg.1	-	16	2923	c.2699A>G	c.(2698-2700)AAG>AGG	p.K900R	TTN_uc010zfh.1_Missense_Mutation_p.K854R|TTN_uc010zfi.1_Missense_Mutation_p.K854R|TTN_uc010zfj.1_Missense_Mutation_p.K854R|TTN_uc002unb.2_Missense_Mutation_p.K900R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	900							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTACTTCCTTTTTCACCTC	0.547													C	179648873	T	C	179648873	3	2	213	1	0	0	0	0	1	0	0	0	16732	1609	56	3	108677	3	TTN	2	179648873	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	112978838	179648873	63550500	27	112858											
HIBCH	26275	broad.mit.edu	37	chr2	191161620	191161620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttagtgttatgactccCgtgcaaccttttttttccaa	6	10	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:191161620C>T	uc002uru.2	-	3	221	c.138G>A	c.(136-138)ACG>ACA	p.T46T	HIBCH_uc002urv.2_Silent_p.T46T	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-Coenzyme A hydrolase isoform	46					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TTATGACTCCCGTGCAACCTT	0.358													T	191161620	C	T	191161620	2	4	213	1	0	0	0	0	0	0	0	1	7100	639	23	1		1	HIBCH	2	191161620	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	11512747	191161620	52037753	28	112859											
CTLA4	1493	broad.mit.edu	37	chr2	204735610	204735610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagctcatgtacccaccGccatactacctgggcatagg	11	13	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:204735610G>A	uc002vak.1	+	2	568	c.411G>A	c.(409-411)CCG>CCA	p.P137P	CTLA4_uc002val.1_Silent_p.P137P|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	137	Ig-like V-type.|Extracellular (Potential).				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					0					Abatacept(DB01281)	TGTACCCACCGCCATACTACC	0.512													A	204735610	G	A	204735610	2	1	213	1	0	0	0	0	0	0	0	1	4011	1074	38	1		1	CTLA4	2	204735610	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	13573990	204735610	38463763	29	112860											
COL6A3	1293	broad.mit.edu	37	chr2	238280466	238280467	+	Frame_Shift_Ins	INS	-	-	G													gcagtttctgctccaggctgINSggcagctcccggaaggtgct							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr2:238280465_238280466T>TG	uc002vwl.2	-	8	4479_4480	c.4194_4195A>CA	c.(4192-4197)cccagcfs	p.P1398fs	COL6A3_uc002vwo.2_Frame_Shift_Ins_p.P1192fs|COL6A3_uc010znj.1_Frame_Shift_Ins_p.P791fs|COL6A3_uc002vwq.3_Frame_Shift_Ins_p.P1192fs|COL6A3_uc002vwr.3_Frame_Shift_Ins_p.P991fs	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1398	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.S1399I(1)|p.S1399S(1)		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)		TGCTCCAGGCTGGGCAGCTCCC	0.599													G	238280467	-	G	238280466	7	5	213	1	0	1	1	0	0	0	0	0	3701	1335	47	0	5530	0	COL6A3	2	238280466	Frame_Shift_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	33544856	238280466	4918907	30	112861											
ITPR1	3708	broad.mit.edu	37	chr3	4699844	4699844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctctcgaagtaggttgCggaatgcccaagaaaagatg	12	9	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:4699844C>T	uc003bqa.2	+	13	1381	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	ITPR1_uc010hca.1_Missense_Mutation_p.R330W|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.R330W	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	345	Cytoplasmic (Potential).|MIR 4.				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAGTAGGTTGCGGAATGCCCA	0.498													T	4699844	C	T	4699844	3	4	213	1	0	0	0	0	1	0	0	0	7920	759	27	1	1075	1	ITPR1	3	4699844	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08		4699844	193322586	31	112862											
THRB	7068	broad.mit.edu	37	chr3	24185037	24185037	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgccttgggcgttggtCgccacatgggcttcggtgac	16	11	0	1	rs115360190	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:24185037C>T	uc003ccx.3	-	8	1042	c.693G>A	c.(691-693)GCG>GCA	p.A231A	THRB_uc010hfe.2_Silent_p.A231A|THRB_uc003ccy.3_Silent_p.A231A|THRB_uc003ccz.3_Silent_p.A226A	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	231					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGGCGTTGGTCGCCACATGGG	0.483													T	24185037	C	T	24185037	2	4	213	1	0	0	0	0	0	0	0	1	15872	871	31	1		1	THRB	3	24185037	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	19485193	24185037	173837393	32	112863											
GOLGA4	2803	broad.mit.edu	37	chr3	37368302	37368302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaattagcagagttgaagaGaaaagctgaacaaaaaattg	9	3	0	4			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:37368302G>T	uc003cgv.2	+	14	5229	c.4925G>T	c.(4924-4926)AGA>ATA	p.R1642I	GOLGA4_uc010hgr.1_Missense_Mutation_p.R1203I|GOLGA4_uc003cgw.2_Missense_Mutation_p.R1664I|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.R1523I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1642	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GAGTTGAAGAGAAAAGCTGAA	0.363													T	37368302	G	T	37368302	3	4	213	1	0	0	0	0	1	0	0	0	6555	942	33	5	5049	5	GOLGA4	3	37368302	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	13183265	37368302	160654128	33	112864											
TRAK1	22906	broad.mit.edu	37	chr3	42264549	42264549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtccttcactaacaccCgtgagtccacgaccaccatg	7	16	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:42264549C>T	uc003cky.2	+	16	2398	c.2182C>T	c.(2182-2184)CGT>TGT	p.R728C	TRAK1_uc011azi.1_Missense_Mutation_p.R707C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	728					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						CACTAACACCCGTGAGTCCAC	0.612													T	42264549	C	T	42264549	3	4	213	1	0	0	0	0	1	0	0	0	16446	652	23	1	2632	1	TRAK1	3	42264549	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	4896247	42264549	155757881	34	112865											
BSN	8927	broad.mit.edu	37	chr3	49691693	49691693	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatctgacgcctccagccaGaccaggatggtacatgccag	11	14	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:49691693G>A	uc003cxe.3	+	5	4818	c.4704G>A	c.(4702-4704)CAG>CAA	p.Q1568Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1568					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCCAGCCAGACCAGGATGG	0.607													A	49691693	G	A	49691693	2	1	213	1	0	0	0	0	0	0	0	1	1530	933	33	4		4	BSN	3	49691693	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	7427144	49691693	148330737	35	112866											
SEMA3F	6405	broad.mit.edu	37	chr3	50220987	50220987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaagatgccctacccacGgccgggcacggtaaggaccc	14	14	0	1	rs137935899		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:50220987G>A	uc003cyj.2	+	12	1421	c.1223G>A	c.(1222-1224)CGG>CAG	p.R408Q	SEMA3F_uc003cyk.2_Missense_Mutation_p.R377Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	408	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCCTACCCACGGCCGGGCACG	0.582													A	50220987	G	A	50220987	3	1	213	1	0	0	0	0	1	0	0	0	14029	1116	39	1	1265	1	SEMA3F	3	50220987	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	529294	50220987	147801443	36	112867											
PHLDB2	90102	broad.mit.edu	37	chr3	111603367	111603367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctcagagaagcctccctAttccaaatatagctcaaggc	7	13	2	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:111603367A>G	uc010hqa.2	+	2	854	c.443A>G	c.(442-444)TAT>TGT	p.Y148C	PHLDB2_uc003dyc.2_Missense_Mutation_p.Y175C|PHLDB2_uc003dyd.2_Missense_Mutation_p.Y148C|PHLDB2_uc003dyg.2_Missense_Mutation_p.Y148C|PHLDB2_uc003dyh.2_Missense_Mutation_p.Y148C|PHLDB2_uc003dye.3_Missense_Mutation_p.Y148C|PHLDB2_uc003dyf.3_Missense_Mutation_p.Y148C	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	148						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AAGCCTCCCTATTCCAAATAT	0.507													G	111603367	A	G	111603367	3	3	213	1	0	0	0	0	1	0	0	0	11852	449	16	3	530	3	PHLDB2	3	111603367	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	61382380	111603367	86419063	37	112868											
MED12L	116931	broad.mit.edu	37	chr3	151073819	151073819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacggactaattgacttcGcaatacaggtgtcaaagaga	9	8	2	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:151073819G>A	uc003eyp.2	+	17	2586	c.2548G>A	c.(2548-2550)GCA>ACA	p.A850T	MED12L_uc011bnz.1_Missense_Mutation_p.A710T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A14T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	850					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTGACTTCGCAATACAGGT	0.403													A	151073819	G	A	151073819	3	1	213	1	0	0	0	0	1	0	0	0	9429	1087	38	1	2614	1	MED12L	3	151073819	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	39470452	151073819	46948611	38	112869											
BCHE	590	broad.mit.edu	37	chr3	165503997	165503997	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattgttgagcacgtagtttCgtcattattcttgttgactc	8	8	2	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:165503997C>T	uc003fem.3	-	3	1780	c.1620G>A	c.(1618-1620)ACG>ACA	p.T540T	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	540					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			ovary(3)|pancreas(1)	4					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)	CACGTAGTTTCGTCATTATTC	0.358													T	165503997	C	T	165503997	2	4	213	1	0	0	0	0	0	0	0	1	1358	871	31	1		1	BCHE	3	165503997	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	14430178	165503997	32518433	39	112870											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	213	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	13432094	178936091	19086339	40	112871											
HTR3E	285242	broad.mit.edu	37	chr3	183823112	183823112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaataacagacgcatcccGgaacatccttcagacccatg	8	13	1	2	rs145547998	byFrequency	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:183823112G>A	uc010hxq.2	+	6	1083	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	HTR3E_uc003fml.3_Missense_Mutation_p.R191Q|HTR3E_uc003fmm.2_Missense_Mutation_p.R221Q|HTR3E_uc010hxr.2_Missense_Mutation_p.R232Q|HTR3E_uc003fmn.2_Missense_Mutation_p.R206Q	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	206	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GACGCATCCCGGAACATCCTT	0.493													A	183823112	G	A	183823112	3	1	213	1	0	0	0	0	1	0	0	0	7448	1116	39	1	680	1	HTR3E	3	183823112	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	4887021	183823112	14199318	41	112872											
EIF4G1	1981	broad.mit.edu	37	chr3	184041232	184041232	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctctcagcagggacccCgaaaagaaccacgcaagatc	11	14	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:184041232C>T	uc003fnp.2	+	15	2323	c.2125C>T	c.(2125-2127)CGA>TGA	p.R709*	EIF4G1_uc003fno.1_Nonsense_Mutation_p.R650*|EIF4G1_uc010hxw.1_Nonsense_Mutation_p.R545*|EIF4G1_uc003fnt.2_Nonsense_Mutation_p.R420*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.R622*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.R545*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.R716*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.R669*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.R716*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.R710*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.R709*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.R716*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.R514*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.R513*|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	709	eIF3/EIF4A-binding.|MIF4G.				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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGGACCCCGAAAAGAACC	0.532													T	184041232	C	T	184041232	4	4	213	1	0	0	0	0	0	1	0	0	5036	644	23	1	2175	1	EIF4G1	3	184041232	Nonsense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	218120	184041232	13981198	42	112873											
FGF12	2257	broad.mit.edu	37	chr3	191861866	191861866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaacttttccttgaacGcccttgtttttctccaattt	4	12	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr3:191861866G>A	uc003fsx.2	-	5	1490	c.664C>T	c.(664-666)CGT>TGT	p.R222C	FGF12_uc003fsy.2_Missense_Mutation_p.R160C	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	222					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	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)		TTCCTTGAACGCCCTTGTTTT	0.328													A	191861866	G	A	191861866	3	1	213	1	0	0	0	0	1	0	0	0	5841	1087	38	1	71	1	FGF12	3	191861866	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	7820634	191861866	6160564	43	112874											
TRIO	7204	broad.mit.edu	37	chr5	14389501	14389503	+	In_Frame_Del	DEL	ATA	ATA	-													gcaagaaatctacgaatttcAtaataagtgagtggcttttt							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:14389501_14389503delATA	uc003jff.2	+	25	4058_4060	c.4052_4054delATA	c.(4051-4056)CATAAT>CAT	p.N1353del	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_In_Frame_Del_p.N1304del|TRIO_uc003jfh.1_In_Frame_Del_p.N1002del	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1353	DH 1.				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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TACGAATTTCATAATAAGTGAGT	0.399													-	14389503	ATA	-	14389501	7	5	213	1	0	1	0	1	0	0	0	0	16549	217	8	0	4150	0	TRIO	5	14389501	In_Frame_Del	DEL	ATA	TCGA-D7-6815-01A-11D-1882-08		14389501	166525759	44	112875											
RASA1	5921	broad.mit.edu	37	chr5	86672329	86672329	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccctgcgtgttcgagcaCgatactctatggaaaaaatc	10	10	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:86672329C>T	uc003kiw.2	+	16	2249	c.2131C>T	c.(2131-2133)CGA>TGA	p.R711*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R534*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R544*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R545*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R533*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	711					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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		TGTTCGAGCACGATACTCTAT	0.393													T	86672329	C	T	86672329	4	4	213	1	0	0	0	0	0	1	0	0	13060	528	19	1	2205	1	RASA1	5	86672329	Nonsense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	72282828	86672329	94242931	45	112876											
P4HA2	8974	broad.mit.edu	37	chr5	131530693	131530693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccccgctccgcaagaggTtgtaccagaacacagctgta	9	14	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:131530693T>C	uc003kwh.2	-	14	2027	c.1463A>G	c.(1462-1464)AAC>AGC	p.N488S	P4HA2_uc003kwg.2_Missense_Mutation_p.N486S|P4HA2_uc003kwi.2_Missense_Mutation_p.N486S|P4HA2_uc003kwk.2_Missense_Mutation_p.N486S|P4HA2_uc003kwl.2_Missense_Mutation_p.N488S|P4HA2_uc003kwj.2_Missense_Mutation_p.N486S	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	488	Fe2OG dioxygenase.					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				0		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)	CCGCAAGAGGTTGTACCAGAA	0.537													C	131530693	T	C	131530693	3	2	213	1	0	0	0	0	1	0	0	0	11357	1725	60	3	152	3	P4HA2	5	131530693	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	44858364	131530693	49384567	46	112877											
PCDHA4	56144	broad.mit.edu	37	chr5	140188676	140188676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgagatcagcacaacgcGtgccctggacgaaacggacg	14	12	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:140188676G>A	uc003lhi.2	+	1	2005	c.1904G>A	c.(1903-1905)CGT>CAT	p.R635H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635H|PCDHA4_uc011daa.1_Missense_Mutation_p.R635H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	635	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAACGCGTGCCCTGGAC	0.682													A	140188676	G	A	140188676	3	1	213	1	0	0	0	0	1	0	0	0	11526	1145	40	1	1906	1	PCDHA4	5	140188676	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	8657983	140188676	40726584	47	112878											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755558	140755558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgccctgctggacagagaCgcgctcaagcagagcctagt	13	14	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:140755558C>T	uc003ljy.1	+	1	1908	c.1908C>T	c.(1906-1908)GAC>GAT	p.D636D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.D636D	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	636	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACGCGCTCAAGC	0.701													T	140755558	C	T	140755558	2	4	213	1	0	0	0	0	0	0	0	1	11558	535	19	1		1	PCDHGA6	5	140755558	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	566882	140755558	40159702	48	112879											
FAT2	2196	broad.mit.edu	37	chr5	150907625	150907625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatggtgaagtgcccaaGctggttccctcctatgaggc	13	10	0	3	rs145145475	by1000genomes	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:150907625G>T	uc003lue.3	-	15	10109	c.10096C>A	c.(10096-10098)CTT>ATT	p.L3366I	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.L59I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3366	Cadherin 30.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTGCCCAAGCTGGTTCCCT	0.567													T	150907625	G	T	150907625	3	4	213	1	0	0	0	0	1	0	0	0	5690	971	34	5	2989	5	FAT2	5	150907625	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	10152067	150907625	30007635	49	112880											
GRIA1	2890	broad.mit.edu	37	chr5	153190663	153190663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaacagcggggcaggaGccagcagcggcggcagtgga	18	13	0	0	rs139474308		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr5:153190663G>T	uc003lva.3	+	16	2964	c.2599G>T	c.(2599-2601)GCC>TCC	p.A867S	GRIA1_uc003luy.3_Missense_Mutation_p.A867S|GRIA1_uc003luz.3_Missense_Mutation_p.A772S|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.A787S|GRIA1_uc011dcx.1_Missense_Mutation_p.A798S|GRIA1_uc011dcy.1_Missense_Mutation_p.A877S|GRIA1_uc011dcz.1_Missense_Mutation_p.A877S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	867	Cytoplasmic (Potential).			AGA -> TAP (in Ref. 1; AAA58613).	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	p.A867S(1)		ovary(4)|skin(2)	6		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)	CGGGGCAGGAGCCAGCAGCGG	0.582													T	153190663	G	T	153190663	3	4	213	1	0	0	0	0	1	0	0	0	6767	971	34	5	2780	5	GRIA1	5	153190663	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	2283038	153190663	27724597	50	112881											
OR10C1	442194	broad.mit.edu	37	chr6	29408180	29408180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatctgtgaacccctcCgctacccactgctgctgagc	8	18	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:29408180C>T	uc011dlp.1	+	1	388	c.388C>T	c.(388-390)CGC>TGC	p.R130C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGAACCCCTCCGCTACCCACT	0.622													T	29408180	C	T	29408180	3	4	213	1	0	0	0	0	1	0	0	0	10898	652	23	1	390	1	OR10C1	6	29408180	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08		29408180	141706887	51	112882											
C6orf81	221481	broad.mit.edu	37	chr6	35705852	35705852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggactcaggtgagctccGgaggctcctcaactctttgg	14	12	3	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:35705852G>A	uc003ola.2	+	2	320	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Missense_Mutation_p.R71Q	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	71							binding			ovary(1)	1						GGTGAGCTCCGGAGGCTCCTC	0.577											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35705852	G	A	35705852	3	1	213	1	0	0	0	0	1	0	0	0	2372	1116	39	1	299	1	C6orf81	6	35705852	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	6297672	35705852	135409215	52	112883											
UNC5CL	222643	broad.mit.edu	37	chr6	41001837	41001837	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacagggcttaccagcccctGggcttgggacagcgatgggg	16	12	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:41001837G>C	uc003opi.2	-	3	558	c.469C>G	c.(469-471)CAG>GAG	p.Q157E	UNC5CL_uc010jxe.1_Missense_Mutation_p.Q157E	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	157	ZU5.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCAGCCCCTGGGCTTGGGAC	0.657													C	41001837	G	C	41001837	3	2	213	1	0	0	0	0	1	0	0	0	16991	1357	47	5	1115	5	UNC5CL	6	41001837	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	5295985	41001837	130113230	53	112884											
GPR116	221395	broad.mit.edu	37	chr6	46823761	46823761	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatattggagaactcataGaaaacacaggtgtggatgaa	11	4	1	4			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:46823761G>A	uc003oyo.3	-	20	4200	c.3911C>T	c.(3910-3912)TCT>TTT	p.S1304F	GPR116_uc011dwj.1_Missense_Mutation_p.S859F|GPR116_uc011dwk.1_Missense_Mutation_p.S733F|GPR116_uc003oyp.3_Missense_Mutation_p.S1162F|GPR116_uc003oyq.3_Missense_Mutation_p.S1304F|GPR116_uc010jzi.1_Missense_Mutation_p.S956F	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1304	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			AGAACTCATAGAAAACACAGG	0.418													A	46823761	G	A	46823761	3	1	213	1	0	0	0	0	1	0	0	0	6633	942	33	4	137	4	GPR116	6	46823761	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	5821924	46823761	124291306	54	112885											
CRISP3	10321	broad.mit.edu	37	chr6	49698923	49698923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcaactggcacaaggtgctCcttgttcataagggacatat	11	9	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:49698923C>A	uc003ozs.2	-	7	578	c.563G>T	c.(562-564)GGA>GTA	p.G188V		NM_006061	NP_006052	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3 precursor	188					innate immune response	proteinaceous extracellular matrix|specific granule				skin(2)	2	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACAAGGTGCTCCTTGTTCATA	0.318													A	49698923	C	A	49698923	3	1	213	1	0	0	0	0	1	0	0	0	3881	855	30	5	182	5	CRISP3	6	49698923	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	2875162	49698923	121416144	55	112886											
TTK	7272	broad.mit.edu	37	chr6	80751871	80751871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagtggtggtgaaagtcaTaattcttcatcctccaagac	8	8	3	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:80751871T>C	uc003pjc.2	+	22	2600	c.2526T>C	c.(2524-2526)CAT>CAC	p.H842H	TTK_uc003pjb.3_Silent_p.H841H	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	842					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			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		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)		GTGAAAGTCATAATTCTTCAT	0.294													C	80751871	T	C	80751871	2	2	213	1	0	0	0	0	0	0	0	1	16717	1403	49	3		3	TTK	6	80751871	Silent	SNP	T	TCGA-D7-6815-01A-11D-1882-08	31052948	80751871	90363196	56	112887											
MCHR2	84539	broad.mit.edu	37	chr6	100390958	100390958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcccaaattgatccGgatggtcttgtaccttgttc	9	11	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:100390958G>A	uc003pqh.1	-	4	769	c.454C>T	c.(454-456)CGG>TGG	p.R152W	MCHR2_uc003pqi.1_Missense_Mutation_p.R152W	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	152	Cytoplasmic (Potential).		R -> Q (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		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)		AAATTGATCCGGATGGTCTTG	0.473													A	100390958	G	A	100390958	3	1	213	1	0	0	0	0	1	0	0	0	9383	1115	39	1	580	1	MCHR2	6	100390958	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	19639087	100390958	70724109	57	112888											
CLVS2	134829	broad.mit.edu	37	chr6	123332153	123332153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactggtggatattttgcGtgccatcttactttctttag	8	9	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:123332153G>A	uc003pzi.1	+	3	1282	c.413G>A	c.(412-414)CGT>CAT	p.R138H		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	138	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GATATTTTGCGTGCCATCTTA	0.378													A	123332153	G	A	123332153	3	1	213	1	0	0	0	0	1	0	0	0	3572	1145	40	1	419	1	CLVS2	6	123332153	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	22941195	123332153	47782914	58	112889											
ARHGAP18	93663	broad.mit.edu	37	chr6	129937434	129937435	+	Frame_Shift_Ins	INS	-	-	A													agcgctgtcaatggaacgcaINSaaaaagaccagaatctgcaa							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:129937433_129937434C>CA	uc003qbr.3	-	6	1056_1057	c.967_968G>TG	c.(967-969)tgcfs	p.C323fs	ARHGAP18_uc011ebw.2_Frame_Shift_Ins_p.C323fs|ARHGAP18_uc021zfe.1_Frame_Shift_Ins_p.C320fs	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	323					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CAATGGAACGCAAAAAAGACCA	0.337													A	129937435	-	A	129937434	7	5	213	1	0	1	1	0	0	0	0	0	868	130	5	0	1060	0	ARHGAP18	6	129937434	Frame_Shift_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	6605281	129937434	41177633	59	112890											
SYNE1	23345	broad.mit.edu	37	chr6	152651740	152651740	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactttgctcatcctcaagaAttgggcttcaagttcactca	6	11	5	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr6:152651740A>T	uc010kiw.2	-	78	14682	c.14080T>A	c.(14080-14082)TTC>ATC	p.F4694I	SYNE1_uc003qot.3_Missense_Mutation_p.F4623I|SYNE1_uc003qou.3_Missense_Mutation_p.F4694I|SYNE1_uc010kiz.2_Missense_Mutation_p.F449I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4694	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCTCAAGAATTGGGCTTCA	0.502										HNSCC(10;0.0054)			T	152651740	A	T	152651740	3	4	213	1	0	0	0	0	1	0	0	0	15442	101	4	5	12662	5	SYNE1	6	152651740	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	22714306	152651740	18463327	60	112891											
ETV1	2115	broad.mit.edu	37	chr7	13971291	13971291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttggctcagacatctggCgttggtacataggacgtcct	12	9	2	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:13971291C>T	uc011jxq.1	-	9	1377	c.638G>A	c.(637-639)CGC>CAC	p.R213H	ETV1_uc011jxn.1_Missense_Mutation_p.R173H|ETV1_uc011jxo.1_Missense_Mutation_p.R110H|ETV1_uc011jxp.1_Missense_Mutation_p.R155H|ETV1_uc003ssw.3_Missense_Mutation_p.R213H|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.R195H|ETV1_uc011jxs.1_Missense_Mutation_p.R195H|ETV1_uc010ktv.2_Missense_Mutation_p.R82H	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	213					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						AGACATCTGGCGTTGGTACAT	0.532			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								T	13971291	C	T	13971291	3	4	213	1	0	0	0	0	1	0	0	0	5277	768	27	1	819	1	ETV1	7	13971291	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08		13971291	145167372	61	112892											
TMEM195	392636	broad.mit.edu	37	chr7	15470727	15470727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccggcccacataataTtaacttctgcaaaacacata	6	11	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:15470727T>A	uc003stb.1	-	4	586	c.416A>T	c.(415-417)AAT>ATT	p.N139I		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	139					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0						CCACATAATATTAACTTCTGC	0.398													A	15470727	T	A	15470727	3	1	213	1	0	0	0	0	1	0	0	0	16114	1493	52	5	961	5	TMEM195	7	15470727	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	1499436	15470727	143667936	62	112893											
DNAH11	8701	broad.mit.edu	37	chr7	21779199	21779199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttcaggtatgatagaCagaaggtgatgcttaaagaa	11	4	2	5			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:21779199C>A	uc003svc.2	+	49	7874	c.7843C>A	c.(7843-7845)CAG>AAG	p.Q2615K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2615	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GTATGATAGACAGAAGGTGAT	0.373									Kartagener_syndrome				A	21779199	C	A	21779199	3	1	213	1	0	0	0	0	1	0	0	0	4599	479	17	5	8034	5	DNAH11	7	21779199	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	6308472	21779199	137359464	63	112894											
KLHL7	55975	broad.mit.edu	37	chr7	23205329	23205329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctacaggattatagctggAcagacatccgctgccccttt	9	12	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:23205329A>G	uc003svs.3	+	8	1242	c.949A>G	c.(949-951)ACA>GCA	p.T317A	KLHL7_uc003svr.3_Missense_Mutation_p.T295A|KLHL7_uc011jys.1_Missense_Mutation_p.T241A|KLHL7_uc011jyt.1_Missense_Mutation_p.T92A|KLHL7_uc003svt.2_Missense_Mutation_p.T269A|KLHL7_uc011jyv.1_Missense_Mutation_p.T92A	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	317	Kelch 1.					Golgi apparatus|nucleolus|plasma membrane					0						TTATAGCTGGACAGACATCCG	0.388													G	23205329	A	G	23205329	3	3	213	1	0	0	0	0	1	0	0	0	8394	275	10	3	1042	3	KLHL7	7	23205329	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	1426130	23205329	135933334	64	112895											
SEMA3D	223117	broad.mit.edu	37	chr7	84629053	84629053	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcaatgacattcaaagtCagcttcactatggtgtggat	8	8	4	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:84629053C>A	uc003uic.2	-	17	2077	c.2037G>T	c.(2035-2037)CTG>CTT	p.L679L	SEMA3D_uc010led.2_Silent_p.L679L|SEMA3D_uc003uib.2_Silent_p.L318L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	679	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CATTCAAAGTCAGCTTCACTA	0.463													A	84629053	C	A	84629053	2	1	213	1	0	0	0	0	0	0	0	1	14027	813	29	5		5	SEMA3D	7	84629053	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	61423724	84629053	74509610	65	112896											
ZAN	7455	broad.mit.edu	37	chr7	100350655	100350655	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccatccccacggaaaaacTtaccatccccacggaaaaac	4	17	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:100350655T>G	uc003uwj.2	+	14	3092	c.2927T>G	c.(2926-2928)CTT>CGT	p.L976R	ZAN_uc003uwk.2_Missense_Mutation_p.L976R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	976	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTTACCATCCCC	0.552													G	100350655	T	G	100350655	3	3	213	1	0	0	0	0	1	0	0	0	17510	1609	56	5	2977	5	ZAN	7	100350655	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	15721602	100350655	58788008	66	112897											
EPHB4	2050	broad.mit.edu	37	chr7	100417377	100417377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcgcacaggagcctcCgggtcggcactcccggcagc	16	16	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:100417377C>T	uc003uwn.1	-	6	1590	c.1099G>A	c.(1099-1101)GGA>AGA	p.G367R	EPHB4_uc003uwm.1_Missense_Mutation_p.G274R|EPHB4_uc010lhj.1_Missense_Mutation_p.G367R|EPHB4_uc011kkf.1_Missense_Mutation_p.G367R|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.G367R	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	367	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGGAGCCTCCGGGTCGGCAC	0.697													T	100417377	C	T	100417377	3	4	213	1	0	0	0	0	1	0	0	0	5177	661	23	1	1912	1	EPHB4	7	100417377	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	66722	100417377	58721286	67	112898											
DOCK4	9732	broad.mit.edu	37	chr7	111398842	111398842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcacagcatatatctgCaaatctaggattcaagagtc	9	8	4	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:111398842C>T	uc003vfx.2	-	40	4409	c.4140G>A	c.(4138-4140)TTG>TTA	p.L1380L	DOCK4_uc011kml.1_Silent_p.L261L|DOCK4_uc011kmm.1_Silent_p.L287L|DOCK4_uc003vfw.2_Silent_p.L830L|DOCK4_uc003vfy.2_Silent_p.L1425L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1380	DHR-2.			YLQ -> CIRTYKGWTQFGTAVITDVGRLGTQIITQIN (in Ref. 3; BAC05221).	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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CATATATCTGCAAATCTAGGA	0.478													T	111398842	C	T	111398842	2	4	213	1	0	0	0	0	0	0	0	1	4689	709	25	2		2	DOCK4	7	111398842	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	10981465	111398842	47739821	68	112899											
ZNF282	8427	broad.mit.edu	37	chr7	148921431	148921431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccagatgacgcaccgcGgcgagcggccctacaagtgc	13	16	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:148921431G>A	uc003wfm.2	+	8	1813	c.1708G>A	c.(1708-1710)GGC>AGC	p.G570S	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	570					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACGCACCGCGGCGAGCGGCC	0.657													A	148921431	G	A	148921431	3	1	213	1	0	0	0	0	1	0	0	0	17816	1116	39	1	1738	1	ZNF282	7	148921431	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	37522589	148921431	10217232	69	112900											
FASTK	10922	broad.mit.edu	37	chr7	150775086	150775086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggggtgccacccctgcttCccgagccaggatcctctcaa	10	17	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:150775086C>T	uc003wix.1	-	5	1017	c.919G>A	c.(919-921)GAA>AAA	p.E307K	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.E68K|FASTK_uc003wiy.1_Missense_Mutation_p.E166K|FASTK_uc003wiz.1_Missense_Mutation_p.E280K|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	307					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			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)		ACCCCTGCTTCCCGAGCCAGG	0.577													T	150775086	C	T	150775086	3	4	213	1	0	0	0	0	1	0	0	0	5684	864	30	4	754	4	FASTK	7	150775086	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	1853655	150775086	8363577	70	112901											
PRKAG2	51422	broad.mit.edu	37	chr7	151254294	151254294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcacggcggtcactccGtttctgtctccttttgtttg	8	12	4	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr7:151254294G>A	uc003wkk.2	-	16	2314	c.1703C>T	c.(1702-1704)ACG>ATG	p.T568M	PRKAG2_uc003wki.2_Missense_Mutation_p.T327M|PRKAG2_uc011kvl.1_Missense_Mutation_p.T443M|PRKAG2_uc003wkj.2_Missense_Mutation_p.T524M|PRKAG2_uc003wkl.2_3'UTR	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	568					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGGTCACTCCGTTTCTGTCTC	0.493													A	151254294	G	A	151254294	3	1	213	1	0	0	0	0	1	0	0	0	12501	1145	40	1	10	1	PRKAG2	7	151254294	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	479208	151254294	7884369	71	112902											
CLVS1	157807	broad.mit.edu	37	chr8	62212794	62212794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaaaccgagaccattaCggcaggaagattcttttgct	10	9	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:62212794C>T	uc003xuh.2	+	2	732	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	CLVS1_uc003xug.2_Silent_p.Y136Y|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.Y136Y	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						GAGACCATTACGGCAGGAAGA	0.443													T	62212794	C	T	62212794	2	4	213	1	0	0	0	0	0	0	0	1	3571	547	19	1		1	CLVS1	8	62212794	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08		62212794	84151228	72	112903											
MATN2	4147	broad.mit.edu	37	chr8	98973727	98973727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtgctacagtggctaCgccctggctgaggatgggaa	15	10	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:98973727C>T	uc003yic.2	+	5	1158	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y	MATN2_uc003yib.1_Silent_p.Y309Y|MATN2_uc010mbh.1_Silent_p.Y309Y|MATN2_uc003yid.2_Silent_p.Y309Y|MATN2_uc003yie.1_Silent_p.Y309Y|MATN2_uc010mbi.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	309	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACAGTGGCTACGCCCTGGCTG	0.582													T	98973727	C	T	98973727	2	4	213	1	0	0	0	0	0	0	0	1	9334	547	19	1		1	MATN2	8	98973727	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	36760933	98973727	47390295	73	112904											
ZFPM2	23414	broad.mit.edu	37	chr8	106815221	106815221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatgcctttaccctggaGcaataaagaaagcaaaagga	8	9	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:106815221G>A	uc003ymd.2	+	8	2934	c.2911G>A	c.(2911-2913)GCA>ACA	p.A971T	ZFPM2_uc011lhs.1_Missense_Mutation_p.A702T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	971					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTACCCTGGAGCAATAAAGAA	0.408													A	106815221	G	A	106815221	3	1	213	1	0	0	0	0	1	0	0	0	17655	971	34	2	2941	2	ZFPM2	8	106815221	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	7841494	106815221	39548801	74	112905			1	52		3	3	238	N	G_C_A	8.229402e-07
ZFPM2	23414	broad.mit.edu	37	chr8	106815238	106815238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaataaagaaagcaaaAggagccgaccagctttctcc	10	10	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:106815238A>G	uc003ymd.2	+	8	2951	c.2928A>G	c.(2926-2928)AAA>AAG	p.K976K	ZFPM2_uc011lhs.1_Silent_p.K707K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	976					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAGCAAAAGGAGCCGACC	0.403													G	106815238	A	G	106815238	2	3	213	1	0	0	0	0	0	0	0	1	17655	69	3	3		3	ZFPM2	8	106815238	Silent	SNP	A	TCGA-D7-6815-01A-11D-1882-08	17	106815238	39548784	75	112906			1	52		3	3	238	N	G_C_A	8.229402e-07
ZFPM2	23414	broad.mit.edu	37	chr8	106815458	106815458	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgaatggtggactgaaaCaagatgagagacctgctgcc	13	7	0	5			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:106815458C>T	uc003ymd.2	+	8	3171	c.3148C>T	c.(3148-3150)CAA>TAA	p.Q1050*	ZFPM2_uc011lhs.1_Nonsense_Mutation_p.Q781*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	1050					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGACTGAAACAAGATGAGAG	0.498													T	106815458	C	T	106815458	4	4	213	1	0	0	0	0	0	1	0	0	17655	479	17	4	3178	4	ZFPM2	8	106815458	Nonsense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	220	106815458	39548564	76	112907			1	52		3	3	238	N	G_C_A	8.229402e-07
MTBP	27085	broad.mit.edu	37	chr8	121530251	121530251	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgaaactccaaaacttGctacaaagaccagttcaggt	8	10	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:121530251G>C	uc003ypc.1	+	19	2452	c.2407G>C	c.(2407-2409)GCT>CCT	p.A803P		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	803	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	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)			TCCAAAACTTGCTACAAAGAC	0.393													C	121530251	G	C	121530251	3	2	213	1	0	0	0	0	1	0	0	0	9912	1319	46	5	2481	5	MTBP	8	121530251	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	14714793	121530251	24833771	77	112908											
FAM83H	286077	broad.mit.edu	37	chr8	144809765	144809765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggggagcaggtcgccGgcaggtgcccggcccccggg	20	15	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr8:144809765G>A	uc003yzk.2	-	5	1935	c.1866C>T	c.(1864-1866)GCC>GCT	p.A622A	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	622					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			GCAGGTCGCCGGCAGGTGCCC	0.756													A	144809765	G	A	144809765	2	1	213	1	0	0	0	0	0	0	0	1	5640	1103	39	1		1	FAM83H	8	144809765	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	23279514	144809765	1554257	78	112909											
JAK2	3717	broad.mit.edu	37	chr9	5089674	5089674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgtgatgtgtcatttagGgtaattttgggagtgtggag	15	1	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:5089674G>A	uc010mhm.2	+	19	2685	c.2572G>A	c.(2572-2574)GGT>AGT	p.G858S	JAK2_uc003ziw.2_Missense_Mutation_p.G858S	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	858	Protein kinase 2.|ATP (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		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	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)		TGTCATTTAGGGTAATTTTGG	0.383		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5089674	G	A	5089674	3	1	213	1	0	0	0	0	1	0	0	0	7938	1246	43	4	2642	4	JAK2	9	5089674	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08		5089674	136123757	79	112910											
C9orf93	203238	broad.mit.edu	37	chr9	15846777	15846777	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatagacatcttacccagctGgagcaggacaagcgtcgact	10	11	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:15846777G>T	uc003zmd.2	+	22	3660	c.3345G>T	c.(3343-3345)CTG>CTT	p.L1115L	C9orf93_uc003zme.2_Silent_p.L1030L|C9orf93_uc011lmu.1_Silent_p.L1123L|C9orf93_uc003zmf.1_Silent_p.L423L	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1115	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		TTACCCAGCTGGAGCAGGACA	0.512													T	15846777	G	T	15846777	2	4	213	1	0	0	0	0	0	0	0	1	2506	1335	47	5		5	C9orf93	9	15846777	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	10757103	15846777	125366654	80	112911											
RFK	55312	broad.mit.edu	37	chr9	79002415	79002415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtttcttagcttcttcaAtatcaccttgaattgctgaa	6	9	4	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:79002415A>G	uc004akd.2	-	4	725	c.389T>C	c.(388-390)ATT>ACT	p.I130T	RFK_uc004ake.2_3'UTR	NM_018339	NP_060809	Q969G6	RIFK_HUMAN	riboflavin kinase	123					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity				0					Riboflavin(DB00140)	AGCTTCTTCAATATCACCTTG	0.323													G	79002415	A	G	79002415	3	3	213	1	0	0	0	0	1	0	0	0	13251	101	4	3	103	3	RFK	9	79002415	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	63155638	79002415	62211016	81	112912											
TGFBR1	7046	broad.mit.edu	37	chr9	101904870	101904870	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagattatcatgagcatggAtccctttttgattacttaaa	6	7	2	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:101904870A>T	uc004azc.2	+	5	934	c.858A>T	c.(856-858)GGA>GGT	p.G286G	TGFBR1_uc004azd.2_Silent_p.G209G|TGFBR1_uc011lvc.1_Silent_p.G217G	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	286	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				ATGAGCATGGATCCCTTTTTG	0.428													T	101904870	A	T	101904870	2	4	213	1	0	0	0	0	0	0	0	1	15818	320	12	5		5	TGFBR1	9	101904870	Silent	SNP	A	TCGA-D7-6815-01A-11D-1882-08	22902455	101904870	39308561	82	112913											
CYLC2	1539	broad.mit.edu	37	chr9	105767016	105767016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagaggagatcgtagacaaCcattatggatgtaccgttct	10	7	1	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:105767016C>A	uc004bbs.2	+	4	290	c.220C>A	c.(220-222)CCA>ACA	p.P74T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				TCGTAGACAACCATTATGGAT	0.373													A	105767016	C	A	105767016	3	1	213	1	0	0	0	0	1	0	0	0	4142	507	18	5	234	5	CYLC2	9	105767016	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	3862146	105767016	35446415	83	112914											
ZFP37	7539	broad.mit.edu	37	chr9	115818962	115818962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctggacgccgctggagaCcgacatggcggctacccgga	14	13	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr9:115818962C>T	uc004bgm.1	-	1	35	c.7G>A	c.(7-9)GTC>ATC	p.V3I	ZFP37_uc011lwz.1_Missense_Mutation_p.V3I|ZFP37_uc011lxa.1_Missense_Mutation_p.V3I	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	3						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCGCTGGAGACCGACATGGCG	0.662													T	115818962	C	T	115818962	3	4	213	1	0	0	0	0	1	0	0	0	17645	507	18	4	1901	4	ZFP37	9	115818962	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	10051946	115818962	25394469	84	112915											
CDC123	8872	broad.mit.edu	37	chr10	12277093	12277093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattcctggggctgagtttcGatgttttgtcaaggaaaaca	12	6	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:12277093G>A	uc001ill.2	+	8	820	c.536G>A	c.(535-537)CGA>CAA	p.R179Q	CDC123_uc001ilm.2_Missense_Mutation_p.R179Q	NM_006023	NP_006014	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)	1						GCTGAGTTTCGATGTTTTGTC	0.333													A	12277093	G	A	12277093	3	1	213	1	0	0	0	0	1	0	0	0	3055	1058	37	1	566	1	CDC123	10	12277093	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08		12277093	123257654	85	112916											
BICC1	80114	broad.mit.edu	37	chr10	60573731	60573731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattggcagccctaagcgtAaacaaaacaaatcaagtgag	8	9	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:60573731A>G	uc001jki.1	+	18	2518	c.2518A>G	c.(2518-2520)AAA>GAA	p.K840E	BICC1_uc001jkj.1_Missense_Mutation_p.K481E	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	840					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						CCCTAAGCGTAAACAAAACAA	0.433													G	60573731	A	G	60573731	3	3	213	1	0	0	0	0	1	0	0	0	1427	363	13	3	2588	3	BICC1	10	60573731	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	48296638	60573731	74961016	86	112917											
JMJD1C	221037	broad.mit.edu	37	chr10	64977091	64977091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccatttaaggaataaggaCcttaaaaaaaacacaagaaa	5	6	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:64977091C>A	uc001jmn.2	-	5	854	c.554G>T	c.(553-555)GGT>GTT	p.G185V	JMJD1C_uc001jml.2_5'UTR|JMJD1C_uc001jmm.2_5'UTR|JMJD1C_uc010qiq.1_Missense_Mutation_p.G3V|JMJD1C_uc009xpi.2_Missense_Mutation_p.G3V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	185					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGAATAAGGACCTTAAAAAAA	0.348													A	64977091	C	A	64977091	3	1	213	1	0	0	0	0	1	0	0	0	7950	521	18	5	7156	5	JMJD1C	10	64977091	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	4403360	64977091	70557656	87	112918											
LRIT2	340745	broad.mit.edu	37	chr10	85982052	85982052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcctcatattttgtgCcaggaaggaggtcatccaca	12	10	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:85982052C>T	uc001kcy.2	-	3	1285	c.1277G>A	c.(1276-1278)GGC>GAC	p.G426D	LRIT2_uc010qmc.1_Missense_Mutation_p.G436D	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	426	Fibronectin type-III.					integral to membrane				ovary(2)	2						ATATTTTGTGCCAGGAAGGAG	0.542													T	85982052	C	T	85982052	3	4	213	1	0	0	0	0	1	0	0	0	8948	739	26	2	379	2	LRIT2	10	85982052	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	21004961	85982052	49552695	88	112919											
DMBT1	1755	broad.mit.edu	37	chr10	124359592	124359592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacagcttcccagtcccGgccaacacctagtccaggtg	8	17	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:124359592G>A	uc001lgk.1	+	27	3399	c.3293G>A	c.(3292-3294)CGG>CAG	p.R1098Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R1088Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R599Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R1098Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R59Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1098					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCAGTCCCGGCCAACACCT	0.527													A	124359592	G	A	124359592	3	1	213	1	0	0	0	0	1	0	0	0	4577	1116	39	1	3399	1	DMBT1	10	124359592	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	38377540	124359592	11175155	89	112920											
CTBP2	1488	broad.mit.edu	37	chr10	126691934	126691934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatttcctgcgtcgactgCgcgtcacagaaggccacagt	12	12	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr10:126691934C>T	uc009yak.2	-	4	473	c.186G>A	c.(184-186)GCG>GCA	p.A62A	CTBP2_uc009yal.2_Silent_p.A62A|CTBP2_uc001lif.3_Silent_p.A62A|CTBP2_uc001lih.3_Silent_p.A62A|CTBP2_uc001lid.3_Silent_p.A130A|CTBP2_uc001lie.3_Silent_p.A602A	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	62					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				0		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)		GCGTCGACTGCGCGTCACAGA	0.677													T	126691934	C	T	126691934	2	4	213	1	0	0	0	0	0	0	0	1	3998	755	27	1		1	CTBP2	10	126691934	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	2332342	126691934	8842813	90	112921											
E2F8	79733	broad.mit.edu	37	chr11	19252213	19252213	+	Frame_Shift_Del	DEL	T	T	-													tagggctactgggcgcagaaTttatctttctccgatcactt							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:19252212_19252212AT>A	uc001mpm.3	-	7	1758	c.1236_1236AT>T	c.(1234-1236)aatfs	p.N412fs	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Frame_Shift_Del_p.N412fs	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	412					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGCGCAGAATTTATCTTTC	0.398													-	19252213	T	-	19252213	7	5	213	1	0	1	0	1	0	0	0	0	4873	1493	52	0	1392	0	E2F8	11	19252213	Frame_Shift_Del	DEL	T	TCGA-D7-6815-01A-11D-1882-08		19252213	115754303	91	112922											
OR8H1	219469	broad.mit.edu	37	chr11	56058005	56058005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaaaattggagacgtgtcGcagaaaaagtgacgaactac	11	7	0	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:56058005G>A	uc010rje.1	-	1	534	c.534C>T	c.(532-534)TGC>TGT	p.C178C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GAGACGTGTCGCAGAAAAAGT	0.438													A	56058005	G	A	56058005	2	1	213	1	0	0	0	0	0	0	0	1	11237	1079	38	1		1	OR8H1	11	56058005	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	36805792	56058005	78948511	92	112923											
PYGM	5837	broad.mit.edu	37	chr11	64520592	64520592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacacagaaccagccagcGccgaggggtgatgccgttgg	15	11	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:64520592G>A	uc001oax.3	-	12	2288	c.1471C>T	c.(1471-1473)CGC>TGC	p.R491C	PYGM_uc001oay.3_Missense_Mutation_p.R403C	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	491					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	ACCAGCCAGCGCCGAGGGGTG	0.572													A	64520592	G	A	64520592	3	1	213	1	0	0	0	0	1	0	0	0	12862	1087	38	1	1093	1	PYGM	11	64520592	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	8462587	64520592	70485924	93	112924											
RSF1	51773	broad.mit.edu	37	chr11	77387955	77387955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgccctctggggtcgttTattttcttttctttcttcat	7	10	5	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:77387955T>C	uc001oyn.2	-	13	3343	c.3223A>G	c.(3223-3225)AAA>GAA	p.K1075E	RSF1_uc001oym.2_Missense_Mutation_p.K823E	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1075					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			ovary(2)|central_nervous_system(2)	4	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)			TGGGGTCGTTTATTTTCTTTT	0.468													C	77387955	T	C	77387955	3	2	213	1	0	0	0	0	1	0	0	0	13699	1763	61	3	1118	3	RSF1	11	77387955	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	12867363	77387955	57618561	94	112925											
CCDC67	159989	broad.mit.edu	37	chr11	93104248	93104248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactaaatggtaaaaaacaGtgcttagaagacagcagctc	8	8	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:93104248G>A	uc001pdq.2	+	7	691	c.591G>A	c.(589-591)CAG>CAA	p.Q197Q	CCDC67_uc001pdo.1_Silent_p.Q197Q|CCDC67_uc001pdp.2_Silent_p.Q197Q	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	197	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTAAAAAACAGTGCTTAGAAG	0.328													A	93104248	G	A	93104248	2	1	213	1	0	0	0	0	0	0	0	1	2839	1020	36	4		4	CCDC67	11	93104248	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	15716293	93104248	41902268	95	112926											
CRYAB	1410	broad.mit.edu	37	chr11	111782347	111782347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcgggaaaagatcagaCtccaacaggtgctctccgaa	11	11	2	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr11:111782347C>T	uc001pmf.1	-	1	127	c.102G>A	c.(100-102)GAG>GAA	p.E34E	CRYAB_uc010rwp.1_Silent_p.E34E|HSPB2_uc001pmg.2_5'Flank|HSPB2_uc009yyj.2_5'Flank|C11orf52_uc001pmh.2_5'Flank	NM_001885	NP_001876	P02511	CRYAB_HUMAN	crystallin, alpha B	34					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding				0		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|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;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AAAGATCAGACTCCAACAGGT	0.597													T	111782347	C	T	111782347	2	4	213	1	0	0	0	0	0	0	0	1	3906	564	20	4		4	CRYAB	11	111782347	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	18678099	111782347	23224169	96	112927											
PDZRN4	29951	broad.mit.edu	37	chr12	41957359	41957359	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgttttctagataaatgggGaagatgtccagaatcgagaa	11	4	1	4			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:41957359G>C	uc010skn.1	+	8	846	c.778G>C	c.(778-780)GAA>CAA	p.E260Q	PDZRN4_uc001rmq.3_Missense_Mutation_p.E201Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E199Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E86Q	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	459	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GATAAATGGGGAAGATGTCCA	0.418													C	41957359	G	C	41957359	3	2	213	1	0	0	0	0	1	0	0	0	11710	1175	41	5	1478	5	PDZRN4	12	41957359	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08		41957359	91894536	97	112928											
PRPF40B	25766	broad.mit.edu	37	chr12	50036741	50036741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacctccacaccaaagGccgaaagcatggcaggaaag	10	14	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:50036741G>A	uc001rur.1	+	21	2148	c.2084G>A	c.(2083-2085)GGC>GAC	p.G695D	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.G716D|PRPF40B_uc001ruq.1_Missense_Mutation_p.G682D|PRPF40B_uc001rus.1_Missense_Mutation_p.G637D|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	695					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CACACCAAAGGCCGAAAGCAT	0.542													A	50036741	G	A	50036741	3	1	213	1	0	0	0	0	1	0	0	0	12572	1203	42	2	2166	2	PRPF40B	12	50036741	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	8079382	50036741	83815154	98	112929											
RDH5	5959	broad.mit.edu	37	chr12	56115030	56115030	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggttgctcagggaccGgcagagcctgcccgccagca	15	14	1	1	rs3138143		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:56115030G>C	uc001shk.2	+	2	245	c.62G>C	c.(61-63)CGG>CCG	p.R21P	BLOC1S1_uc001shj.3_Intron|RDH5_uc010spt.1_Missense_Mutation_p.R21P|RDH5_uc010spu.1_Intron|RDH5_uc001shl.2_Missense_Mutation_p.R21P	NM_002905	NP_002896	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis and 9-cis)	21					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			ovary(1)	1					NADH(DB00157)|Vitamin A(DB00162)	CTCAGGGACCGGCAGAGCCTG	0.617											OREG0021907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	56115030	G	C	56115030	3	2	213	1	0	0	0	0	1	0	0	0	13195	1116	39	5	64	5	RDH5	12	56115030	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	6078289	56115030	77736865	99	112930											
FAM19A2	338811	broad.mit.edu	37	chr12	62147508	62147508	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatatggcaccaccaTttctgttccactattgaagc	8	12	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:62147508T>A	uc001sqw.2	-	4	1792	c.279A>T	c.(277-279)AAA>AAT	p.K93N	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.K93N|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	93						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGCACCACCATTTCTGTTCCA	0.383													A	62147508	T	A	62147508	3	1	213	1	0	0	0	0	1	0	0	0	5532	1490	52	5	124	5	FAM19A2	12	62147508	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	6032478	62147508	71704387	100	112931											
DPY19L2	283417	broad.mit.edu	37	chr12	63976297	63976297	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actaacaactgcaatgtgtgAaaagccagctataaaacaca	6	9	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:63976297A>C	uc001srp.1	-	18	1795	c.1614T>G	c.(1612-1614)TTT>TTG	p.F538L	DPY19L2_uc010sso.1_5'UTR	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	538	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCAATGTGTGAAAAGCCAGCT	0.289													C	63976297	A	C	63976297	3	2	213	1	0	0	0	0	1	0	0	0	4741	243	9	5	682	5	DPY19L2	12	63976297	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	1828789	63976297	69875598	101	112932											
KCNC2	3747	broad.mit.edu	37	chr12	75601380	75601380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagagcggcccgcacacGtctgcggggcagtgcagctt	15	13	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:75601380G>A	uc001sxg.1	-	2	928	c.384C>T	c.(382-384)GAC>GAT	p.D128D	KCNC2_uc009zry.2_Silent_p.D128D|KCNC2_uc001sxe.2_Silent_p.D128D|KCNC2_uc001sxf.2_Silent_p.D128D|KCNC2_uc010stw.1_Silent_p.D128D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	128	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						GCCCGCACACGTCTGCGGGGC	0.672													A	75601380	G	A	75601380	2	1	213	1	0	0	0	0	0	0	0	1	8015	1136	40	1		1	KCNC2	12	75601380	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	11625083	75601380	58250515	102	112933											
GPR109B	8843	broad.mit.edu	37	chr12	123200189	123200189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaatgtcccttcttggAatggttatttgaggttgggc	13	6	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr12:123200189A>C	uc001ucy.3	-	1	1251	c.1096T>G	c.(1096-1098)TCC>GCC	p.S366A	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	366	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	CCCTTCTTGGAATGGTTATTT	0.527													C	123200189	A	C	123200189	3	2	213	1	0	0	0	0	1	0	0	0	6626	246	9	5	71	5	GPR109B	12	123200189	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	47598809	123200189	10651706	103	112934											
SACS	26278	broad.mit.edu	37	chr13	23929289	23929289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattccataaggctgccgGgtctctccactggtccagct	9	15	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr13:23929289G>A	uc001uon.2	-	8	2051	c.1462C>T	c.(1462-1464)CCG>TCG	p.P488S	SACS_uc001uoo.2_Missense_Mutation_p.P341S|SACS_uc001uop.1_Missense_Mutation_p.P275S|SACS_uc001uoq.1_Missense_Mutation_p.P341S	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	488					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		AAGGCTGCCGGGTCTCTCCAC	0.473													A	23929289	G	A	23929289	3	1	213	1	0	0	0	0	1	0	0	0	13804	1232	43	4	12289	4	SACS	13	23929289	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08		23929289	91240589	104	112935											
DCLK1	9201	broad.mit.edu	37	chr13	36445395	36445396	+	Nonsense_Mutation	DNP	GG	GG	TT													gcaggggacttgctacgcctGgacggtcctgggctcttggt							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr13:36445395_36445396GG>TT	uc001uvf.2	-	5	1138_1139	c.905_906CC>AA	c.(904-906)TCC>TAA	p.S302*	uc001uvi.1_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	302	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		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)		TGCTACGCCTGGACGGTCCTGG	0.52													TT	36445396	GG	TT	36445395	4	4	213	1	0	0	0	0	0	1	0	0	4291	1335	47	5	1339	5	DCLK1	13	36445395	Nonsense_Mutation	DNP	GG	TCGA-D7-6815-01A-11D-1882-08	12516106	36445395	78724483	105	112936											
ELF1	1997	broad.mit.edu	37	chr13	41517138	41517138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcaggtttgtttttgtgCttcccccacaacctggacac	7	12	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr13:41517138C>T	uc001uxs.2	-	7	1129	c.756G>A	c.(754-756)AAG>AAA	p.K252K	ELF1_uc010tfc.1_Silent_p.K228K|ELF1_uc010acd.2_Silent_p.K145K	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	252	ETS.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGTTTTTGTGCTTCCCCCACA	0.388													T	41517138	C	T	41517138	2	4	213	1	0	0	0	0	0	0	0	1	5053	796	28	2		2	ELF1	13	41517138	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	5071743	41517138	73652740	106	112937											
BRMS1L	84312	broad.mit.edu	37	chr14	36300638	36300640	+	In_Frame_Del	DEL	AAG	AAG	-													atggatgatgaagactgtgaAagaagaagaatggaatgttt							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:36300637_36300639AAAG>A	uc001wtl.3	+	1	290_292	c.164_166AAAG>A	c.(163-168)gaaaga>gAga	p.R58del	BRMS1L_uc010tpx.1_In_Frame_Del_p.R10del	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	58					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)		GAAGACTGTGAAAGAAGAAGAAT	0.305													-	36300640	AAG	-	36300638	7	5	213	1	0	1	0	1	0	0	0	0	1517	11	1	0	171	0	BRMS1L	14	36300638	In_Frame_Del	DEL	AAG	TCGA-D7-6815-01A-11D-1882-08		36300638	71048902	107	112938											
SPTB	6710	broad.mit.edu	37	chr14	65259772	65259772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatttccatctcggccagcCacttctccttctctcccatc	4	19	3	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:65259772C>A	uc001xht.2	-	13	2663	c.2609G>T	c.(2608-2610)TGG>TTG	p.W870L	SPTB_uc001xhr.2_Missense_Mutation_p.W870L|SPTB_uc001xhs.2_Missense_Mutation_p.W870L|SPTB_uc001xhu.2_Missense_Mutation_p.W870L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	870	Spectrin 6.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		CTCGGCCAGCCACTTCTCCTT	0.602													A	65259772	C	A	65259772	3	1	213	1	0	0	0	0	1	0	0	0	15117	595	21	5	4538	5	SPTB	14	65259772	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	28959134	65259772	42089768	108	112939											
SPATA7	55812	broad.mit.edu	37	chr14	88895764	88895764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaagggcatgactcaacaTgggatgagattaaggatgat	13	4	1	4			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:88895764T>C	uc001xwq.2	+	8	1136	c.985T>C	c.(985-987)TGG>CGG	p.W329R	SPATA7_uc001xwr.2_Missense_Mutation_p.W297R|SPATA7_uc001xws.2_Missense_Mutation_p.W265R|SPATA7_uc001xwt.2_Missense_Mutation_p.W223R|SPATA7_uc001xwu.2_5'UTR	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	329					response to stimulus|visual perception					ovary(1)	1						TGACTCAACATGGGATGAGAT	0.358													C	88895764	T	C	88895764	3	2	213	1	0	0	0	0	1	0	0	0	15013	1464	51	3	1015	3	SPATA7	14	88895764	Missense_Mutation	SNP	T	TCGA-D7-6815-01A-11D-1882-08	23635992	88895764	18453776	109	112940											
TECPR2	9895	broad.mit.edu	37	chr14	102931611	102931611	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcctggataatgatTgagccacctgtccaggtaag	10	11	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:102931611T>A	uc001ylw.1	+	17	3922	c.3774T>A	c.(3772-3774)ATT>ATA	p.I1258I	TECPR2_uc010awl.2_Silent_p.I1258I|TECPR2_uc010txx.1_Silent_p.I421I	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1258	TECPR 4.						protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GGATAATGATTGAGCCACCTG	0.502													A	102931611	T	A	102931611	2	1	213	1	0	0	0	0	0	0	0	1	15741	1800	63	5		5	TECPR2	14	102931611	Silent	SNP	T	TCGA-D7-6815-01A-11D-1882-08	14035847	102931611	4417929	110	112941											
TNFAIP2	7127	broad.mit.edu	37	chr14	103600064	103600064	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgctctccctacgctggccGagatcattcgcctgcaggac	10	16	2	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:103600064G>T	uc001ymm.1	+	10	1878	c.1747G>T	c.(1747-1749)GAG>TAG	p.E583*	TNFAIP2_uc010awo.1_Nonsense_Mutation_p.E243*|TNFAIP2_uc010txz.1_Nonsense_Mutation_p.E252*|TNFAIP2_uc010tya.1_Nonsense_Mutation_p.E66*	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	583					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			TACGCTGGCCGAGATCATTCG	0.647													T	103600064	G	T	103600064	4	4	213	1	0	0	0	0	0	1	0	0	16270	1059	37	5	1785	5	TNFAIP2	14	103600064	Nonsense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	668453	103600064	3749476	111	112942											
KIF26A	26153	broad.mit.edu	37	chr14	104639830	104639831	+	In_Frame_Ins	INS	-	-	GAC													gtctaccagtaccgcatggaINSgaagtgcggccggggaggaa							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr14:104639830_104639831insGAC	uc001yos.3	+	9	1847_1848	c.1847_1848insGAC	c.(1846-1848)GAG>GAGACG	p.616_617insT		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	616_617	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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TACCGCATGGAGAAGTGCGGCC	0.688													GAC	104639831	-	GAC	104639830	7	5	213	1	0	1	1	0	0	0	0	0	8294	304	11	0	1881	0	KIF26A	14	104639830	In_Frame_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	1039766	104639830	2709710	112	112943											
LCMT2	9836	broad.mit.edu	37	chr15	43622421	43622422	+	Missense_Mutation	DNP	GC	GC	AA													tagagcgagtcgaagccagcGccgagagacaagatctgcgc							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr15:43622421_43622422GC>AA	uc001zrg.2	-	1	470_471	c.266_267GC>TT	c.(265-267)GGC>GTT	p.G89V	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	89		S-adenosyl-L-methionine; via carbonyl oxygen (By similarity).			tRNA processing		methyltransferase activity|protein binding				0		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)	CGAAGCCAGCGCCGAGAGACAA	0.658													AA	43622422	GC	AA	43622421	3	1	213	1	0	0	0	0	1	0	0	0	8679	1074	38	1	1797	1	LCMT2	15	43622421	Missense_Mutation	DNP	GC	TCGA-D7-6815-01A-11D-1882-08		43622421	58908971	113	112944											
PLEKHO2	80301	broad.mit.edu	37	chr15	65140916	65140916	+	Frame_Shift_Del	DEL	C	C	-													atatctgctcctctgccaggCccagctgctggtctatgaga							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr15:65140915_65140915GC>G	uc002anv.3	+	1	270	c.136_136GC>G	c.(136-138)gccfs	p.A46fs	PLEKHO2_uc002anw.3_Intron	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	46	PH.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCTGCCAGGCCCAGCTGCT	0.582													-	65140916	C	-	65140916	7	5	213	1	0	1	0	1	0	0	0	0	12085	739	26	0	143	0	PLEKHO2	15	65140916	Frame_Shift_Del	DEL	C	TCGA-D7-6815-01A-11D-1882-08	21518495	65140916	37390476	114	112945											
ACAN	176	broad.mit.edu	37	chr15	89382194	89382194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaagtccagagcctgcGctccaatgactctggggtct	12	12	2	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr15:89382194G>A	uc010upo.1	+	3	745	c.371G>A	c.(370-372)CGC>CAC	p.R124H	ACAN_uc002bmx.2_Missense_Mutation_p.R124H|ACAN_uc010upp.1_Missense_Mutation_p.R124H|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	124					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGAGCCTGCGCTCCAATGAC	0.622													A	89382194	G	A	89382194	3	1	213	1	0	0	0	0	1	0	0	0	117	1087	38	1	377	1	ACAN	15	89382194	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	24241278	89382194	13149198	115	112946											
TPSD1	23430	broad.mit.edu	37	chr16	1306318	1306318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagatgctgagcctgctgCtgctggcgctgcccgtcctg	13	16	0	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:1306318C>T	uc002clb.1	+	1	46	c.37C>T	c.(37-39)CTG>TTG	p.L13L	TPSD1_uc010brm.1_5'Flank	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	13					proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GAGCCTGCTGCTGCTGGCGCT	0.687													T	1306318	C	T	1306318	2	4	213	1	0	0	0	0	0	0	0	1	16422	796	28	2		2	TPSD1	16	1306318	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08		1306318	89048435	116	112947											
BAIAP3	8938	broad.mit.edu	37	chr16	1398100	1398100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctctgtccgcagttcCgtgcctgccgaggcgtgccg	14	16	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:1398100C>T	uc002clk.1	+	33	3258	c.3258C>T	c.(3256-3258)TCC>TCT	p.S1086S	BAIAP3_uc002clj.2_Silent_p.S1068S|BAIAP3_uc010uuz.1_Silent_p.S1051S|BAIAP3_uc010uva.1_Silent_p.S1023S|BAIAP3_uc010uvc.1_Silent_p.S1015S	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1086	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TCCGCAGTTCCGTGCCTGCCG	0.597													T	1398100	C	T	1398100	2	4	213	1	0	0	0	0	0	0	0	1	1304	639	23	1		1	BAIAP3	16	1398100	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	91782	1398100	88956653	117	112948											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139286	3139286	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggggctcggcctgctcctGcccgggctccgcatgggtag	17	15	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:3139286G>A	uc002ctv.1	-	5	2072	c.1984C>T	c.(1984-1986)CAG>TAG	p.Q662*	ZSCAN10_uc002cty.1_Nonsense_Mutation_p.Q323*|ZSCAN10_uc002ctw.1_Nonsense_Mutation_p.Q580*|ZSCAN10_uc002ctx.1_Nonsense_Mutation_p.Q590*	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	662					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GCCTGCTCCTGCCCGGGCTCC	0.711													A	3139286	G	A	3139286	4	1	213	1	0	0	0	0	0	1	0	0	18224	1328	46	2	197	2	ZSCAN10	16	3139286	Nonsense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	1741186	3139286	87215467	118	112949											
NLRC3	197358	broad.mit.edu	37	chr16	3613636	3613636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcaggaagcagctgcaCggggcgccctgcagcagagc	15	14	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:3613636C>T	uc010btn.2	-	5	1713	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	434	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGCAGCTGCACGGGGCGCCCT	0.577													T	3613636	C	T	3613636	2	4	213	1	0	0	0	0	0	0	0	1	10468	523	19	1		1	NLRC3	16	3613636	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	474350	3613636	86741117	119	112950											
CREBBP	1387	broad.mit.edu	37	chr16	3779597	3779597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatgagctgcttgcacacCgggcagcccccgttggtctt	13	14	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:3779597C>T	uc002cvv.2	-	31	5655	c.5451G>A	c.(5449-5451)CCG>CCA	p.P1817P	CREBBP_uc002cvw.2_Silent_p.P1779P	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1817	TAZ-type 2.|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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTTGCACACCGGGCAGCCCC	0.602			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3779597	C	T	3779597	2	4	213	1	0	0	0	0	0	0	0	1	3861	639	23	1		1	CREBBP	16	3779597	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	165961	3779597	86575156	120	112951											
ZNF500	26048	broad.mit.edu	37	chr16	4802675	4802675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccacactcggggcacGggtagggcttctcgcctgtg	14	14	1	0	rs143815276		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:4802675G>A	uc002cxp.1	-	6	1392	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L	ZNF500_uc002cxo.1_Missense_Mutation_p.P174L|ZNF500_uc010uxt.1_Missense_Mutation_p.P382L	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	382	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CTCGGGGCACGGGTAGGGCTT	0.657													A	4802675	G	A	4802675	3	1	213	1	0	0	0	0	1	0	0	0	17945	1116	39	1	301	1	ZNF500	16	4802675	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	1023078	4802675	85552078	121	112952											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942343	24942343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcggagtactggggggCgttggagtctggggaggggt	25	4	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:24942343C>T	uc002dnb.2	-	19	2370	c.2277G>A	c.(2275-2277)ACG>ACA	p.T759T	ARHGAP17_uc002dmx.2_Silent_p.T21T|ARHGAP17_uc002dmw.2_Silent_p.T21T|ARHGAP17_uc002dmy.2_Silent_p.T204T|ARHGAP17_uc002dmz.2_Silent_p.T283T|ARHGAP17_uc002dna.2_Silent_p.T486T|ARHGAP17_uc002dnc.2_Silent_p.T681T|ARHGAP17_uc010vcf.1_Silent_p.T502T|ARHGAP17_uc002dne.1_Silent_p.T21T	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	759	SH3-binding (Potential).|Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		TACTGGGGGGCGTTGGAGTCT	0.607													T	24942343	C	T	24942343	2	4	213	1	0	0	0	0	0	0	0	1	867	755	27	1		1	ARHGAP17	16	24942343	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	20139668	24942343	65412410	122	112953											
CCDC101	112869	broad.mit.edu	37	chr16	28602110	28602110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagacacaccctgagcCggcgccgtgtcatcccgctg	12	17	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:28602110C>T	uc002dqf.2	+	9	804	c.619C>T	c.(619-621)CGG>TGG	p.R207W	uc010vct.1_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	207	SGF29 C-terminal.				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(1)	1						CACCCTGAGCCGGCGCCGTGT	0.652													T	28602110	C	T	28602110	3	4	213	1	0	0	0	0	1	0	0	0	2735	643	23	1	649	1	CCDC101	16	28602110	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	3659767	28602110	61752643	123	112954											
ITGAD	3681	broad.mit.edu	37	chr16	31435274	31435274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcagtttcggctgggtcCgcgaggtgtgtgggggcagc	18	9	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:31435274C>T	uc002ebv.1	+	27	3203	c.3154C>T	c.(3154-3156)CGC>TGC	p.R1052C	ITGAD_uc010cap.1_Missense_Mutation_p.R1053C	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	1052	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CGGCTGGGTCCGCGAGGTGTG	0.642													T	31435274	C	T	31435274	3	4	213	1	0	0	0	0	1	0	0	0	7884	652	23	1	3260	1	ITGAD	16	31435274	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	2833164	31435274	58919479	124	112955											
CDH16	1014	broad.mit.edu	37	chr16	66946243	66946243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcaaaatccatgaggcGgaaggcgggctcgaggtcag	16	8	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:66946243G>A	uc002eql.2	-	12	1523	c.1450C>T	c.(1450-1452)CGC>TGC	p.R484C	CDH16_uc010cdy.2_Missense_Mutation_p.R484C|CDH16_uc002eqm.2_Missense_Mutation_p.R387C	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	484	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCCATGAGGCGGAAGGCGGGC	0.572													A	66946243	G	A	66946243	3	1	213	1	0	0	0	0	1	0	0	0	3101	1116	39	1	1067	1	CDH16	16	66946243	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	35510969	66946243	23408510	125	112956											
PLEKHG4	25894	broad.mit.edu	37	chr16	67321045	67321045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctggacagctgacatctCccacctgctttggaggcagg	13	13	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:67321045C>T	uc002eso.3	+	17	5603	c.3068C>T	c.(3067-3069)TCC>TTC	p.S1023F	PLEKHG4_uc002esp.3_Missense_Mutation_p.S830F|PLEKHG4_uc002esq.3_Missense_Mutation_p.S1023F|PLEKHG4_uc010cef.2_Missense_Mutation_p.S1023F|PLEKHG4_uc002ess.3_Missense_Mutation_p.S1023F|PLEKHG4_uc010ceg.2_Missense_Mutation_p.S942F	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1023	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCTGACATCTCCCACCTGCTT	0.622													T	67321045	C	T	67321045	3	4	213	1	0	0	0	0	1	0	0	0	12071	855	30	4	3134	4	PLEKHG4	16	67321045	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	374802	67321045	23033708	126	112957											
ZFP1	162239	broad.mit.edu	37	chr16	75203864	75203865	+	Frame_Shift_Ins	INS	-	-	CACAG													aaagtttgaactcaccacacINSaccagagaattcatacagga							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:75203864_75203865insCACAG	uc002fdo.2	+	4	1020_1021	c.856_857insCACAG	c.(856-858)CACfs	p.H286fs	ZFP1_uc002fdp.2_Frame_Shift_Ins_p.H231fs|ZFP1_uc010cgt.2_Frame_Shift_Ins_p.H253fs|ZFP1_uc010cgs.2_Frame_Shift_Ins_p.H231fs|ZFP1_uc002fdq.2_Frame_Shift_Ins_p.H286fs	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	286	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTCACCACACACCAGAGAATT	0.421													CACAG	75203865	-	CACAG	75203864	7	5	213	1	0	1	1	0	0	0	0	0	17633	478	17	0	866	0	ZFP1	16	75203864	Frame_Shift_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	7882819	75203864	15150889	127	112958	534	2									
ZFP1	162239	broad.mit.edu	37	chr16	75203865	75203866	+	Frame_Shift_Ins	INS	-	-	CACAG													aagtttgaactcaccacacaINSccagagaattcatacaggag							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:75203864_75203865C>CCACAG	uc002fdq.3	+	3	980_981	c.856_857C>CCACAG	c.(856-858)cacfs	p.H286fs	ZFP1_uc010cgt.3_Frame_Shift_Ins_p.H253fs|ZFP1_uc002fdo.3_Frame_Shift_Ins_p.H286fs|ZFP1_uc002fdp.3_Frame_Shift_Ins_p.H231fs|ZFP1_uc010cgs.3_Frame_Shift_Ins_p.H231fs	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	Homo sapiens zinc finger protein 1 homolog (mouse) (ZFP1), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						ACTCACCACACACCAGAGAATT	0.421													CACAG	75203866	-	CACAG	75203865	7	5	213	1	0	1	1	0	0	0	0	0	17633	159	6	0	867	0	ZFP1	16	75203865	Frame_Shift_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	1	75203865	15150888	128	112959	534	2									
FAM92B	339145	broad.mit.edu	37	chr16	85143910	85143910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcagctcggggttctcGgagttggcaaagtcgatgag	16	10	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:85143910G>A	uc010vok.1	-	2	333	c.177C>T	c.(175-177)TCC>TCT	p.S59S		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	59										central_nervous_system(1)	1						CGGGGTTCTCGGAGTTGGCAA	0.677													A	85143910	G	A	85143910	2	1	213	1	0	0	0	0	0	0	0	1	5653	1103	39	1		1	FAM92B	16	85143910	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	9940045	85143910	5210843	129	112960											
ZC3H18	124245	broad.mit.edu	37	chr16	88643772	88643772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcctaaatcccaagacCaggactcagaggtgaatgag	12	9	1	5			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:88643772C>T	uc002fky.2	+	2	441	c.241C>T	c.(241-243)CAG>TAG	p.Q81*	ZC3H18_uc010voy.1_Nonsense_Mutation_p.Q81*|ZC3H18_uc010voz.1_Nonsense_Mutation_p.Q81*|ZC3H18_uc010vpa.1_Nonsense_Mutation_p.Q81*	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	81						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATCCCAAGACCAGGACTCAGA	0.627													T	88643772	C	T	88643772	4	4	213	1	0	0	0	0	0	1	0	0	17565	595	21	4	243	4	ZC3H18	16	88643772	Nonsense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	3499862	88643772	1710981	130	112961											
SNAI3	333929	broad.mit.edu	37	chr16	88747616	88747617	+	In_Frame_Ins	INS	-	-	GGC													tgcatcttgagggcacccagINSgctggtgtactccttgtcgc							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr16:88747615_88747616A>AGGC	uc002flj.3	-	1	651_652	c.583_584T>GCCT	c.(583-585)ctg>GCCTg	p.L195A	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	195					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GAGGGCACCCAGGCTGGTGTAC	0.644													GGC	88747617	-	GGC	88747616	7	5	213	1	0	1	1	0	0	0	0	0	14828	991	35	0	303	0	SNAI3	16	88747616	In_Frame_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	103844	88747616	1607137	131	112962											
TSR1	55720	broad.mit.edu	37	chr17	2236864	2236864	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactgaccctttgcctcgctCagctcctcctcagtgggcca	8	17	2	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:2236864C>T	uc002fuj.2	-	6	2085	c.1128G>A	c.(1126-1128)CTG>CTA	p.L376L		NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	376					ribosome assembly	nucleolus	protein binding			ovary(1)	1						TTGCCTCGCTCAGCTCCTCCT	0.493													T	2236864	C	T	2236864	2	4	213	1	0	0	0	0	0	0	0	1	16661	813	29	4		4	TSR1	17	2236864	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08		2236864	78958346	132	112963											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(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*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578406	C	T	7578406	3	4	213	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	5341542	7578406	73616804	133	112964											
TAOK1	57551	broad.mit.edu	37	chr17	27807468	27807468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcttccatggcatcaCctgccaattcctttgtggga	9	13	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:27807468C>A	uc002hdz.1	+	7	726	c.532C>A	c.(532-534)CCT>ACT	p.P178T	TAOK1_uc010wbe.1_Missense_Mutation_p.P178T|TAOK1_uc010wbf.1_Missense_Mutation_p.P178T|TAOK1_uc002heb.1_Missense_Mutation_p.P4T	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	178	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			CATGGCATCACCTGCCAATTC	0.418													A	27807468	C	A	27807468	3	1	213	1	0	0	0	0	1	0	0	0	15544	507	18	5	554	5	TAOK1	17	27807468	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	20229062	27807468	53387742	134	112965											
MRM1	79922	broad.mit.edu	37	chr17	34958585	34958585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgtgccgctaccaggtcCaccagggtgtctgcatggag	13	12	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:34958585C>T	uc002hne.2	+	1	561	c.346C>T	c.(346-348)CAC>TAC	p.H116Y	MRM1_uc002hnf.2_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	116					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTACCAGGTCCACCAGGGTGT	0.697													T	34958585	C	T	34958585	3	4	213	1	0	0	0	0	1	0	0	0	9771	594	21	4	348	4	MRM1	17	34958585	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	7151117	34958585	46236625	135	112966											
SRCIN1	80725	broad.mit.edu	37	chr17	36708247	36708247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatgcaggttcagcgGggggctggggggtggcattt	19	8	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36708247G>T	uc002hqd.2	-	14	2827	c.2602C>A	c.(2602-2604)CCG>ACG	p.P868T	SRCIN1_uc002hqf.1_Missense_Mutation_p.P740T|SRCIN1_uc002hqe.2_Missense_Mutation_p.P722T|SRCIN1_uc002hqg.2_Missense_Mutation_p.P174T	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	740					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						AGGTTCAGCGGGGGGCTGGGG	0.617													T	36708247	G	T	36708247	3	4	213	1	0	0	0	0	1	0	0	0	15135	1232	43	5	973	5	SRCIN1	17	36708247	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	1749662	36708247	44486963	136	112967											
SRCIN1	80725	broad.mit.edu	37	chr17	36719105	36719105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagccagggaaggcagcGtagaggggctcctttctgta	16	8	1	2			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36719105G>A	uc002hqd.2	-	6	1017	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	SRCIN1_uc002hqf.1_Silent_p.Y136Y|SRCIN1_uc002hqe.2_Silent_p.Y118Y|SRCIN1_uc002hqh.1_Silent_p.Y324Y	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	136					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GGAAGGCAGCGTAGAGGGGCT	0.642													A	36719105	G	A	36719105	2	1	213	1	0	0	0	0	0	0	0	1	15135	1140	40	1		1	SRCIN1	17	36719105	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	10858	36719105	44476105	137	112968											
MLLT6	4302	broad.mit.edu	37	chr17	36874191	36874191	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcccctcctctcccaagctGagagcagccacacaggtatg	8	16	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36874191G>C	uc002hqi.3	+	12	1940	c.1927G>C	c.(1927-1929)GAG>CAG	p.E643Q	MLLT6_uc002hqj.2_Missense_Mutation_p.E78Q|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	643					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CTCCCAAGCTGAGAGCAGCCA	0.542			T	MLL	AL								C	36874191	G	C	36874191	3	2	213	1	0	0	0	0	1	0	0	0	9630	1291	45	5	1973	5	MLLT6	17	36874191	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	155086	36874191	44321019	138	112969											
PCGF2	7703	broad.mit.edu	37	chr17	36896639	36896639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctctgtgattttgatcCgtgtagtccgatgcatgatt	10	8	2	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:36896639C>T	uc002hqp.1	-	3	260	c.17G>A	c.(16-18)CGG>CAG	p.R6Q	PCGF2_uc002hqn.1_Missense_Mutation_p.R6Q|PCGF2_uc002hqo.1_Missense_Mutation_p.R6Q|PCGF2_uc010cvo.1_Intron|PCGF2_uc002hqq.1_Missense_Mutation_p.R6Q	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	6					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)|skin(1)	2	Breast(7;9.07e-22)					GATTTTGATCCGTGTAGTCCG	0.562													T	36896639	C	T	36896639	3	4	213	1	0	0	0	0	1	0	0	0	11575	652	23	1	1053	1	PCGF2	17	36896639	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	22448	36896639	44298571	139	112970											
CA4	762	broad.mit.edu	37	chr17	58235657	58235657	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcagagatgagcactacGatggcagagagcagcctgtt	12	9	1	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:58235657G>A	uc002iym.3	+	7	688	c.594G>A	c.(592-594)ACG>ACA	p.T198T	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	198					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				0	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)	TGAGCACTACGATGGCAGAGA	0.602													A	58235657	G	A	58235657	2	1	213	1	0	0	0	0	0	0	0	1	2518	1045	37	1		1	CA4	17	58235657	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	21339018	58235657	22959553	140	112971											
KCNH6	81033	broad.mit.edu	37	chr17	61613084	61613084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctgcggctggtgcgcGtagcacggaagctggaccgc	18	12	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:61613084G>A	uc002jay.2	+	6	1236	c.1156G>A	c.(1156-1158)GTA>ATA	p.V386I	KCNH6_uc002jax.1_Missense_Mutation_p.V386I|KCNH6_uc010wpl.1_Missense_Mutation_p.V263I|KCNH6_uc010wpm.1_Missense_Mutation_p.V386I|KCNH6_uc002jaz.1_Missense_Mutation_p.V386I	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	386	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GCTGGTGCGCGTAGCACGGAA	0.617													A	61613084	G	A	61613084	3	1	213	1	0	0	0	0	1	0	0	0	8036	1145	40	1	1178	1	KCNH6	17	61613084	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	3377427	61613084	19582126	141	112972											
GH2	2689	broad.mit.edu	37	chr17	61958860	61958860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagcaggccaaaagccagGagcagggacgtccgggagcc	16	12	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:61958860G>A	uc002jco.1	-	2	92	c.30C>T	c.(28-30)CTC>CTT	p.L10L	GH2_uc002jcj.2_Silent_p.L10L|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.L10L|GH2_uc002jcm.1_Silent_p.L10L|GH2_uc002jcn.1_Silent_p.L10L	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	10						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						CAAAAGCCAGGAGCAGGGACG	0.607													A	61958860	G	A	61958860	2	1	213	1	0	0	0	0	0	0	0	1	6368	1161	41	4		4	GH2	17	61958860	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	345776	61958860	19236350	142	112973											
SMURF2	64750	broad.mit.edu	37	chr17	62589599	62589599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcattggaaagaagaCgaacacaaccgagaaatcca	10	8	0	4			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:62589599C>T	uc002jep.1	-	4	681	c.293G>A	c.(292-294)CGT>CAT	p.R98H	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	98	C2.				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			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GGAAAGAAGACGAACACAACC	0.343													T	62589599	C	T	62589599	3	4	213	1	0	0	0	0	1	0	0	0	14820	536	19	1	2017	1	SMURF2	17	62589599	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	630739	62589599	18605611	143	112974											
EXOC7	23265	broad.mit.edu	37	chr17	74080608	74080608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcccaccttgactcccGgctggaacacaggtagattc	10	13	0	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr17:74080608G>A	uc002jqs.2	-	17	2014	c.1919C>T	c.(1918-1920)CCG>CTG	p.P640L	EXOC7_uc002jqp.1_Missense_Mutation_p.P26L|EXOC7_uc010dgv.1_Missense_Mutation_p.P514L|EXOC7_uc002jqq.2_Missense_Mutation_p.P589L|EXOC7_uc010wsw.1_Missense_Mutation_p.P612L|EXOC7_uc010wsx.1_Missense_Mutation_p.P581L|EXOC7_uc002jqr.2_Missense_Mutation_p.P558L|EXOC7_uc010wsv.1_Missense_Mutation_p.P561L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	640					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTGACTCCCGGCTGGAACAC	0.542													A	74080608	G	A	74080608	3	1	213	1	0	0	0	0	1	0	0	0	5310	1116	39	1	304	1	EXOC7	17	74080608	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	11491009	74080608	7114602	144	112975											
MAPK4	5596	broad.mit.edu	37	chr18	48255791	48255791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaagctgctgtggcGcgacaacaagccgcaccact	11	15	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:48255791G>A	uc002lev.2	+	6	2331	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H	MAPK4_uc010xdm.1_Missense_Mutation_p.R233H|MAPK4_uc010doz.2_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	444					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCTGTGGCGCGACAACAAG	0.697													A	48255791	G	A	48255791	3	1	213	1	0	0	0	0	1	0	0	0	9280	1087	38	1	1349	1	MAPK4	18	48255791	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08		48255791	29821457	145	112976											
SMAD4	4089	broad.mit.edu	37	chr18	48593481	48593482	+	Frame_Shift_Ins	INS	-	-	T													cacgcggtctttgtacagagINSttactacttagacagagaag							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:48593481_48593482insT	uc010xdp.1	+	10	1770_1771	c.1232_1233insT	c.(1231-1233)AGTfs	p.S411fs	SMAD4_uc002lfb.3_Frame_Shift_Ins_p.S256fs	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	411	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?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		TTTGTACAGAGTTACTACTTAG	0.426									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	48593482	-	T	48593481	7	5	213	1	0	1	1	0	0	0	0	0	14760	1029	36	0	1266	0	SMAD4	18	48593481	Frame_Shift_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	337690	48593481	29483767	146	112977	535	2									
SMAD4	4089	broad.mit.edu	37	chr18	48593482	48593483	+	Frame_Shift_Ins	INS	-	-	T													acgcggtctttgtacagagtINStactacttagacagagaagc							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:48593481_48593482G>GT	uc010xdp.2	+	9	1770_1771	c.1232_1233G>GT	c.(1231-1233)agtfs	p.S411fs	SMAD4_uc002lfb.4_Frame_Shift_Ins_p.S256fs	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	411	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|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|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q410fs*6(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)		TTTGTACAGAGTTACTACTTAG	0.426													T	48593483	-	T	48593482	7	5	213	1	0	1	1	0	0	0	0	0	14760	1722	60	0	1267	0	SMAD4	18	48593482	Frame_Shift_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	1	48593482	29483766	147	112978	535	2									
SMAD4	4089	broad.mit.edu	37	chr18	48604674	48604674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaccttcgtcgcttatGcatactcaggatgagttttg	10	8	1	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:48604674G>A	uc010xdp.1	+	12	2034	c.1496G>A	c.(1495-1497)TGC>TAC	p.C499Y	SMAD4_uc002lfb.3_Missense_Mutation_p.C344Y	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	499	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?(35)|p.C499Y(2)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		CGTCGCTTATGCATACTCAGG	0.478									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				A	48604674	G	A	48604674	3	1	213	1	0	0	0	0	1	0	0	0	14760	1319	46	2	1538	2	SMAD4	18	48604674	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	11192	48604674	29472574	148	112979											
SERPINB4	6318	broad.mit.edu	37	chr18	61309051	61309051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgatcttcagctcataTgcatcagtggatttgttgaa	10	7	4	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr18:61309051T>C	uc002ljf.2	-	4	380	c.294A>G	c.(292-294)GCA>GCG	p.A98A	SERPINB4_uc002lje.2_Silent_p.A98A|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	98					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TCAGCTCATATGCATCAGTGG	0.398													C	61309051	T	C	61309051	2	2	213	1	0	0	0	0	0	0	0	1	14103	1451	51	3		3	SERPINB4	18	61309051	Silent	SNP	T	TCGA-D7-6815-01A-11D-1882-08	12704377	61309051	16768197	149	112980											
SAFB2	9667	broad.mit.edu	37	chr19	5622607	5622621	+	In_Frame_Del	DEL	CGCCCGCAGATCGAT	CGCCCGCAGATCGAT	-													aggttccgcttcttcagctcCgcccgcagatcgatcacccg							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:5622607_5622621delCGCCCGCAGATCGAT	uc002mcd.2	-	1	318_332	c.106_120delATCGATCTGCGGGCG	c.(106-120)ATCGATCTGCGGGCGdel	p.IDLRA36del	SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_In_Frame_Del_p.IDLRA36del|SAFB2_uc010xip.1_RNA	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	36_40	SAP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCTTCAGCTCCGCCCGCAGATCGATCACCCGCAGC	0.712													-	5622621	CGCCCGCAGATCGAT	-	5622607	7	5	213	1	0	1	0	1	0	0	0	0	13807	639	23	0	2825	0	SAFB2	19	5622607	In_Frame_Del	DEL	CGCCCGCAGATCGAT	TCGA-D7-6815-01A-11D-1882-08		5622607	53506376	150	112981											
SFRS14	10147	broad.mit.edu	37	chr19	19141867	19141867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaagtctcctgtgtaattCgtctggctgccatgttattt	8	9	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:19141867C>T	uc002nkx.2	-	2	160	c.14G>A	c.(13-15)CGA>CAA	p.R5Q	SFRS14_uc002nkz.1_Missense_Mutation_p.R19Q|SFRS14_uc002nla.1_Missense_Mutation_p.R5Q|SFRS14_uc002nlb.2_Missense_Mutation_p.R5Q|SFRS14_uc010xqk.1_5'UTR|ARMC6_uc002nlc.2_5'Flank|ARMC6_uc002nld.2_5'Flank|ARMC6_uc010xql.1_5'Flank|ARMC6_uc002nle.2_5'Flank	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	5					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CTGTGTAATTCGTCTGGCTGC	0.338													T	19141867	C	T	19141867	3	4	213	1	0	0	0	0	1	0	0	0	14170	884	31	1	3270	1	SFRS14	19	19141867	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	13519260	19141867	39987116	151	112982											
PAF1	54623	broad.mit.edu	37	chr19	39879402	39879404	+	Splice_Site	DEL	CTA	CTA	-													tggacagcaggaccacctacCtaatcatggcctgagacatc							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:39879401_39879403CCTA>C	uc002old.3	-	9	915	c.740_splice	c.e9+1	p.R247_splice	PAF1_uc010xuv.2_Splice_Site|PAF1_uc002ole.1_Splice_Site_p.R237_splice|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	247					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)			GGACCACCTACCTAATCATGGCC	0.552													-	39879404	CTA	-	39879402	8	5	213	1	0	1	0	1	0	0	1	0	11383	695	24	0	879	0	PAF1	19	39879402	Splice_Site	DEL	CTA	TCGA-D7-6815-01A-11D-1882-08	20737535	39879402	19249581	152	112983											
ZC3H4	23211	broad.mit.edu	37	chr19	47569645	47569645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggaggccgtggggtcgaAgcctttaaaaacatccttca	14	9	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:47569645A>G	uc002pga.3	-	15	3918	c.3880T>C	c.(3880-3882)TTC>CTC	p.F1294L	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1294							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		GTGGGGTCGAAGCCTTTAAAA	0.627													G	47569645	A	G	47569645	3	3	213	1	0	0	0	0	1	0	0	0	17567	72	3	3	35	3	ZC3H4	19	47569645	Missense_Mutation	SNP	A	TCGA-D7-6815-01A-11D-1882-08	7690243	47569645	11559338	153	112984											
C19orf41	126123	broad.mit.edu	37	chr19	50666388	50666388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaggggtcgcactgcaGgcagccccagcctccggggg	15	16	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:50666388G>A	uc002prp.1	-	1	151	c.64C>T	c.(64-66)CTG>TTG	p.L22L		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	22	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		TCGCACTGCAGGCAGCCCCAG	0.706													A	50666388	G	A	50666388	2	1	213	1	0	0	0	0	0	0	0	1	1924	991	35	4		4	C19orf41	19	50666388	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	3096743	50666388	8462595	154	112985											
CEACAM18	729767	broad.mit.edu	37	chr19	51981863	51981863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggctgtgtctctggaGggacccctcctcctggagga	16	11	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:51981863G>A	uc002pwv.1	+	2	150	c.150G>A	c.(148-150)GAG>GAA	p.E50E		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	50						integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGTCTCTGGAGGGACCCCTCC	0.627													A	51981863	G	A	51981863	2	1	213	1	0	0	0	0	0	0	0	1	3189	991	35	4		4	CEACAM18	19	51981863	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	1315475	51981863	7147120	155	112986											
ZNF547	284306	broad.mit.edu	37	chr19	57889486	57889486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagcaaagcagtgcaGtgaatgtgggaaattcttta	11	7	1	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr19:57889486G>A	uc002qol.2	+	4	1335	c.1142G>A	c.(1141-1143)AGT>AAT	p.S381N	ZNF547_uc002qpm.3_Intron|ZNF547_uc010ygx.1_Intron	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	381	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCAGTGCAGTGAATGTGGG	0.463													A	57889486	G	A	57889486	3	1	213	1	0	0	0	0	1	0	0	0	17976	1029	36	4	1152	4	ZNF547	19	57889486	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	5907623	57889486	1239497	156	112987											
PLUNC	51297	broad.mit.edu	37	chr20	31828172	31828172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccattcccctggaagcctgCaaatttctctgcttgatggg	9	13	1	1	rs115425643	byFrequency	TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:31828172C>A	uc002wyv.2	+	5	632	c.562C>A	c.(562-564)CAA>AAA	p.Q188K	PLUNC_uc002wyt.3_Missense_Mutation_p.Q188K|PLUNC_uc002wyu.3_Missense_Mutation_p.Q188K	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	188					innate immune response	extracellular region	lipid binding				0						TGGAAGCCTGCAAATTTCTCT	0.522													A	31828172	C	A	31828172	3	1	213	1	0	0	0	0	1	0	0	0	12115	711	25	5	576	5	PLUNC	20	31828172	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08		31828172	31197348	157	112988											
ZNF341	84905	broad.mit.edu	37	chr20	32341059	32341059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaccactgcccccaCcgccaccacctcagcctcca	3	26	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:32341059C>T	uc002wzy.2	+	5	591	c.571C>T	c.(571-573)CCG>TCG	p.P191S	ZNF341_uc002wzx.2_Missense_Mutation_p.P191S|ZNF341_uc010geq.2_Missense_Mutation_p.P101S|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						actgcccccaccgccaccacc	0.388													T	32341059	C	T	32341059	3	4	213	1	0	0	0	0	1	0	0	0	17854	507	18	4	589	4	ZNF341	20	32341059	Missense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	512887	32341059	30684461	158	112989											
LBP	3929	broad.mit.edu	37	chr20	36975024	36975024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggtcgccaggatcacCgacaagggactgcagtatgg	15	10	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:36975024C>T	uc002xic.1	+	1	140	c.105C>T	c.(103-105)ACC>ACT	p.T35T		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	35					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			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				CCAGGATCACCGACAAGGGAC	0.632													T	36975024	C	T	36975024	2	4	213	1	0	0	0	0	0	0	0	1	8651	639	23	1		1	LBP	20	36975024	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	4633965	36975024	26050496	159	112990											
TOP1	7150	broad.mit.edu	37	chr20	39728846	39728846	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgggcatgctgaagagaCgaatcatgcccgaggatata	13	7	1	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr20:39728846C>T	uc002xjl.2	+	12	1372	c.1126C>T	c.(1126-1128)CGA>TGA	p.R376*	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	376					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(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GCTGAAGAGACGAATCATGCC	0.502			T	NUP98	AML*								T	39728846	C	T	39728846	4	4	213	1	0	0	0	0	0	1	0	0	16360	528	19	1	1172	1	TOP1	20	39728846	Nonsense_Mutation	SNP	C	TCGA-D7-6815-01A-11D-1882-08	2753822	39728846	23296674	160	112991											
PSMG1	8624	broad.mit.edu	37	chr21	40555269	40555269	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtcctcagtcccagctcGgcacggcgccttcaccacct	8	19	2	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr21:40555269G>C	uc002yxi.2	-	1	172	c.43C>G	c.(43-45)CGA>GGA	p.R15G	PSMG1_uc002yxj.2_Missense_Mutation_p.R15G|PSMG1_uc010gob.2_5'UTR	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	15					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				GTCCCAGCTCGGCACGGCGCC	0.582													C	40555269	G	C	40555269	3	2	213	1	0	0	0	0	1	0	0	0	12711	1124	39	5	851	5	PSMG1	21	40555269	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08		40555269	7574626	161	112992											
CCDC116	164592	broad.mit.edu	37	chr22	21988517	21988517	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacagtggtggagaaggcGactgagcgcatggctgccat	17	8	0	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr22:21988517G>A	uc002zve.2	+	3	372	c.279G>A	c.(277-279)GCG>GCA	p.A93A	CCDC116_uc011aih.1_Silent_p.A93A	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93	Potential.									ovary(1)|skin(1)	2	Colorectal(54;0.105)					TGGAGAAGGCGACTGAGCGCA	0.622													A	21988517	G	A	21988517	2	1	213	1	0	0	0	0	0	0	0	1	2753	1045	37	1		1	CCDC116	22	21988517	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08		21988517	29316049	162	112993											
MN1	4330	broad.mit.edu	37	chr22	28193748	28193748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcttgccgtcattcccCgacgtggattccagggtgta	12	13	1	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr22:28193748C>T	uc003adj.2	-	1	3739	c.2784G>A	c.(2782-2784)TCG>TCA	p.S928S		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	928							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGTCATTCCCCGACGTGGATT	0.677			T	ETV6	AML|meningioma								T	28193748	C	T	28193748	2	4	213	1	0	0	0	0	0	0	0	1	9673	639	23	1		1	MN1	22	28193748	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	6205231	28193748	23110818	163	112994											
SREBF2	6721	broad.mit.edu	37	chr22	42271599	42271599	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggacaatgaggtggacctGaagatcgaggactttaatca	13	6	1	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chr22:42271599G>T	uc003bbi.2	+	7	1426	c.1257G>T	c.(1255-1257)CTG>CTT	p.L419L	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	419	Interaction with LMNA (By similarity).|Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						AGGTGGACCTGAAGATCGAGG	0.517													T	42271599	G	T	42271599	2	4	213	1	0	0	0	0	0	0	0	1	15141	1277	45	5		5	SREBF2	22	42271599	Silent	SNP	G	TCGA-D7-6815-01A-11D-1882-08	14077851	42271599	9032967	164	112995											
NR0B1	190	broad.mit.edu	37	chrX	30326860	30326860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagggtgctgccctgctgCgggtggtcttcaccgcaaaa	14	11	2	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:30326860C>T	uc004dcf.3	-	1	636	c.621G>A	c.(619-621)CCG>CCA	p.P207P		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	207	4; truncated.|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			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGCCCTGCTGCGGGTGGTCTT	0.687											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30326860	C	T	30326860	2	4	213	1	0	0	0	0	0	0	0	1	10613	755	27	1		1	NR0B1	23	30326860	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08		30326860	124943700	165	112996											
PIM2	11040	broad.mit.edu	37	chrX	48776164	48776164	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgctaagcccgcagggcGtggacgcccggggcagcgca	16	16	0	0			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:48776164G>A	uc004dls.2	-	1	250	c.-52C>T	c.(-54--50)CACGC>CATGC			NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	serine/threonine protein kinase pim-2						anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						CCCGCAGGGCGTGGACGCCCG	0.731													A	48776164	G	A	48776164	1	1	213	1	0	0	0	0	0	0	0	0	11928	1160	40	1		1	PIM2	23	48776164	Translation_Start_Site	SNP	G	TCGA-D7-6815-01A-11D-1882-08	18449304	48776164	106494396	166	112997											
LAS1L	81887	broad.mit.edu	37	chrX	64754491	64754491	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgatgccgtgggccgagagTggcaacgaccctttcccttt	12	13	0	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:64754491T>G	uc004dwa.1	-	1	177	c.105A>C	c.(103-105)CCA>CCC	p.P35P	LAS1L_uc004dwc.1_Silent_p.P35P|LAS1L_uc004dwd.1_Silent_p.P35P	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	35						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						GGGCCGAGAGTGGCAACGACC	0.617													G	64754491	T	G	64754491	2	3	213	1	0	0	0	0	0	0	0	1	8636	1683	59	5		5	LAS1L	23	64754491	Silent	SNP	T	TCGA-D7-6815-01A-11D-1882-08	15978327	64754491	90516069	167	112998											
XKRX	402415	broad.mit.edu	37	chrX	100178029	100178029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccacagtgtgaggtaCttaatcatggcctccaaaca	7	11	2	1			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:100178029C>T	uc004egn.2	-	2	962	c.357G>A	c.(355-357)AAG>AAA	p.K119K	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	119						integral to membrane|plasma membrane				breast(1)	1						GTGTGAGGTACTTAATCATGG	0.468													T	100178029	C	T	100178029	2	4	213	1	0	0	0	0	0	0	0	1	17436	564	20	4		4	XKRX	23	100178029	Silent	SNP	C	TCGA-D7-6815-01A-11D-1882-08	35423538	100178029	55092531	168	112999											
KIAA1210	57481	broad.mit.edu	37	chrX	118223121	118223121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggattcataaacacctgaGcctctgctgctactgagaga	9	10	2	3			TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:118223121G>T	uc004era.3	-	11	2072	c.2072C>A	c.(2071-2073)GCT>GAT	p.A691D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	691										ovary(4)|skin(1)	5						AAACACCTGAGCCTCTGCTGC	0.463													T	118223121	G	T	118223121	3	4	213	1	0	0	0	0	1	0	0	0	8214	971	34	5	3073	5	KIAA1210	23	118223121	Missense_Mutation	SNP	G	TCGA-D7-6815-01A-11D-1882-08	18045092	118223121	37047439	169	113000											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937527	+	In_Frame_Ins	INS	-	-	GGC													tcagatccgggctggttcggINSgcggcggcggcggctctgca							TCGA-D7-6815-01A-11D-1882-08	TCGA-D7-6815-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9536f736-63bc-4099-bd54-740f5910f4a8	033f45f0-c6fd-496e-8bf4-214102be013f	g.chrX:149937525_149937526G>GGGC	uc004fek.3	-	11	1028_1029	c.800_801C>GCCC	c.(799-801)ccc>cGCCC	p.P267R	CD99L2_uc011myb.2_In_Frame_Ins_p.P184R|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Ins_p.P257R|CD99L2_uc004fem.3_In_Frame_Ins_p.P208R|CD99L2_uc004fen.3_In_Frame_Ins_p.P185R	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	257					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)					GGGCTGGTTCGGGCGGCGGCGG	0.619													GGC	149937527	-	GGC	149937526	7	5	213	1	0	1	1	0	0	0	0	0	3051	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Ins	INS	-	TCGA-D7-6815-01A-11D-1882-08	31714405	149937526	5333034	170	113001											
SGIP1	84251	broad.mit.edu	37	chr1	67109391	67109391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggcaacatcgcactttccCcatcaccagtggtgagtgtt	9	12	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr1:67109391C>A	uc001dcr.2	+	7	665	c.448C>A	c.(448-450)CCA>ACA	p.P150T	SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	150					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			ovary(3)	3						CGCACTTTCCCCATCACCAGT	0.383													A	67109391	C	A	67109391	3	1	214	1	0	0	0	0	1	0	0	0	14206	623	22	5	474	5	SGIP1	1	67109391	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		67109391	182141230	1	113002											
ASH1L	55870	broad.mit.edu	37	chr1	155340643	155340643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttttaggggctctttggttCtgattccccaacctttttcc	7	12	2	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr1:155340643C>T	uc009wqq.2	-	11	6959	c.6479G>A	c.(6478-6480)AGA>AAA	p.R2160K	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.R2155K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2160	SET.				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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			CTCTTTGGTTCTGATTCCCCA	0.483													T	155340643	C	T	155340643	3	4	214	1	0	0	0	0	1	0	0	0	1041	913	32	4	2502	4	ASH1L	1	155340643	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	88231252	155340643	93909978	2	113003											
HNRNPU	3192	broad.mit.edu	37	chr1	245022628	245022628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaatacgaacttcatgtaTgtcaatatcttttgtatata	5	7	3	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr1:245022628T>C	uc001iaz.1	-	5	1284	c.1066A>G	c.(1066-1068)ATA>GTA	p.I356V	HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.I80V|HNRNPU_uc001iba.1_Missense_Mutation_p.I337V|HNRNPU_uc001ibb.1_Missense_Mutation_p.I44V	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	356	B30.2/SPRY.				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				0	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)			ACTTCATGTATGTCAATATCT	0.368													C	245022628	T	C	245022628	3	2	214	1	0	0	0	0	1	0	0	0	7273	1464	51	3	1451	3	HNRNPU	1	245022628	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	89681985	245022628	4227993	3	113004											
OR14I1	401994	broad.mit.edu	37	chr1	248844940	248844940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagggattctgagcacCgttgagaagatttggaaata	12	6	1	4	rs112867044		TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr1:248844940C>T	uc001ieu.1	-	1	666	c.666G>A	c.(664-666)ACG>ACA	p.T222T		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCTGAGCACCGTTGAGAAGA	0.478													T	248844940	C	T	248844940	2	4	214	1	0	0	0	0	0	0	0	1	10947	639	23	1		1	OR14I1	1	248844940	Silent	SNP	C	TCGA-D7-6817-01A-11D-1882-08	3822312	248844940	405681	4	113005											
RASGRP3	25780	broad.mit.edu	37	chr2	33747139	33747139	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgagcacctcactttTctggagcataaatcttttag	8	9	3	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:33747139T>C	uc002rox.2	+	8	1113	c.486T>C	c.(484-486)TTT>TTC	p.F162F	RASGRP3_uc010ync.1_Silent_p.F162F|RASGRP3_uc002roy.2_Silent_p.F162F	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	162	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			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					ACCTCACTTTTCTGGAGCATA	0.418													C	33747139	T	C	33747139	2	2	214	1	0	0	0	0	0	0	0	1	13076	1780	62	3		3	RASGRP3	2	33747139	Silent	SNP	T	TCGA-D7-6817-01A-11D-1882-08		33747139	209452234	5	113006											
LHCGR	3973	broad.mit.edu	37	chr2	48915510	48915510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtcttaatcgcagcttttGgtccaggtgaatagcatagg	11	7	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:48915510G>C	uc002rwu.3	-	11	1496	c.1426C>G	c.(1426-1428)CAA>GAA	p.Q476E	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	476	Cytoplasmic (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		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)	CGCAGCTTTTGGTCCAGGTGA	0.443									Familial_Male-Limited_Precocious_Puberty				C	48915510	G	C	48915510	3	2	214	1	0	0	0	0	1	0	0	0	8762	1357	47	5	677	5	LHCGR	2	48915510	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	15168371	48915510	194283863	6	113007											
NRXN1	9378	broad.mit.edu	37	chr2	50149136	50149136	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgttggagcttttcgcActgctgggttgtttctcctt	10	8	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:50149136A>G	uc010fbp.2	-	6	2082	c.1275T>C	c.(1273-1275)AGT>AGC	p.S425S	NRXN1_uc002rxb.3_Silent_p.S1159S|NRXN1_uc010fbq.2_Silent_p.S1530S|NRXN1_uc002rxe.3_Silent_p.S1460S|NRXN1_uc010yon.1_Silent_p.S125S|NRXN1_uc002rxa.3_Silent_p.S122S	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	425	Cytoplasmic (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCTTTTCGCACTGCTGGGTT	0.403													G	50149136	A	G	50149136	2	3	214	1	0	0	0	0	0	0	0	1	10665	156	6	3		3	NRXN1	2	50149136	Silent	SNP	A	TCGA-D7-6817-01A-11D-1882-08	1233626	50149136	193050237	7	113008											
ATOH8	84913	broad.mit.edu	37	chr2	85981419	85981419	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggcaaggagccggcgcggcGcgcgaacggctataaaactt	15	11	0	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:85981419G>C	uc002sqn.2	+	1	511	c.107G>C	c.(106-108)CGC>CCC	p.R36P	ATOH8_uc002sqm.3_Missense_Mutation_p.R36P	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	36					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						CCGGCGCGGCGCGCGAACGGC	0.662													C	85981419	G	C	85981419	3	2	214	1	0	0	0	0	1	0	0	0	1114	1087	38	5	109	5	ATOH8	2	85981419	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	35832283	85981419	157217954	8	113009											
KCNIP3	30818	broad.mit.edu	37	chr2	96047430	96047430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctctacgacattaacaaGgatggctacatcaccaaaga	6	10	2	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:96047430G>T	uc002sup.2	+	6	649	c.534G>T	c.(532-534)AAG>AAT	p.K178N	KCNIP3_uc002suq.2_Missense_Mutation_p.K152N	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	178	EF-hand 3.|1 (By similarity).				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		ACATTAACAAGGATGGCTACA	0.403													T	96047430	G	T	96047430	3	4	214	1	0	0	0	0	1	0	0	0	8041	991	35	5	663	5	KCNIP3	2	96047430	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	10066011	96047430	147151943	9	113010											
LCT	3938	broad.mit.edu	37	chr2	136594316	136594316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaggcttcggttctccGgagggtgctggcagggaggg	19	8	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:136594316G>A	uc002tuu.1	-	1	435	c.424C>T	c.(424-426)CGG>TGG	p.R142W		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	142	Extracellular (Potential).|4 X approximate repeats.|1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCGGTTCTCCGGAGGGTGCTG	0.592													A	136594316	G	A	136594316	3	1	214	1	0	0	0	0	1	0	0	0	8693	1115	39	1	5427	1	LCT	2	136594316	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	40546886	136594316	106605057	10	113011											
THSD7B	80731	broad.mit.edu	37	chr2	138030105	138030105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcctttacttcaggaAatgccacagtaaaacagtct	5	10	2	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:138030105A>C	uc002tva.1	+	10	2176	c.2176A>C	c.(2176-2178)AAT>CAT	p.N726H	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.N616H	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TACTTCAGGAAATGCCACAGT	0.383													C	138030105	A	C	138030105	3	2	214	1	0	0	0	0	1	0	0	0	15877	14	1	5	2214	5	THSD7B	2	138030105	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	1435789	138030105	105169268	11	113012											
MBD5	55777	broad.mit.edu	37	chr2	149227248	149227248	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttccagcaagtagttTactctcagcagcagccaaag	7	13	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:149227248T>G	uc002twm.3	+	9	2724	c.1736T>G	c.(1735-1737)TTA>TGA	p.L579*	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Nonsense_Mutation_p.L579*|MBD5_uc002twn.1_Nonsense_Mutation_p.L20*	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	579						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCAAGTAGTTTACTCTCAGCA	0.483													G	149227248	T	G	149227248	4	3	214	1	0	0	0	0	0	1	0	0	9347	1764	61	5	1750	5	MBD5	2	149227248	Nonsense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	11197143	149227248	93972125	12	113013											
SCN1A	6323	broad.mit.edu	37	chr2	166848778	166848778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccgatgttaaacaaCgcaggaagggacatcatcaa	12	8	2	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:166848778C>T	uc010zcz.1	-	26	4992	c.4974G>A	c.(4972-4974)GCG>GCA	p.A1658A		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1669	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTTAAACAACGCAGGAAGGG	0.493													T	166848778	C	T	166848778	2	4	214	1	0	0	0	0	0	0	0	1	13914	523	19	1		1	SCN1A	2	166848778	Silent	SNP	C	TCGA-D7-6817-01A-11D-1882-08	17621530	166848778	76350595	13	113014											
LRP2	4036	broad.mit.edu	37	chr2	170042284	170042284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgatgttactgttttgccGgcaggtctttccatctggtt	10	9	2	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:170042284G>A	uc002ues.2	-	50	9787	c.9574C>T	c.(9574-9576)CGG>TGG	p.R3192W		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3192	EGF-like 12; calcium-binding (Potential).|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	CTGTTTTGCCGGCAGGTCTTT	0.433													A	170042284	G	A	170042284	3	1	214	1	0	0	0	0	1	0	0	0	8956	1115	39	1	4513	1	LRP2	2	170042284	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	3193506	170042284	73157089	14	113015											
KLHL23	151230	broad.mit.edu	37	chr2	170591630	170591630	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttacttggatggattatttActgatattactcttcagtgt	7	5	2	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:170591630A>T	uc002ufh.1	+	4	444	c.106A>T	c.(106-108)ACT>TCT	p.T36S	KLHL23_uc002ufi.1_Missense_Mutation_p.T36S	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	36	BTB.										0						TGGATTATTTACTGATATTAC	0.358													T	170591630	A	T	170591630	3	4	214	1	0	0	0	0	1	0	0	0	8378	391	14	5	108	5	KLHL23	2	170591630	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	549346	170591630	72607743	15	113016											
WIPF1	7456	broad.mit.edu	37	chr2	175436475	175436475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggaagaggacctgaaCgtcctggcgaaggtaacggg	19	7	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:175436475C>T	uc002uiy.2	-	6	1390	c.1058G>A	c.(1057-1059)CGT>CAT	p.R353H	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R353H|WIPF1_uc010fqt.1_Missense_Mutation_p.R353H|WIPF1_uc002ujc.1_Missense_Mutation_p.R353H|WIPF1_uc002uiz.2_Missense_Mutation_p.R353H|WIPF1_uc002ujb.1_Missense_Mutation_p.R353H|WIPF1_uc010zep.1_Missense_Mutation_p.R353H	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	353	XRSGPXPPXP motif 1.|Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						AGGACCTGAACGTCCTGGCGA	0.617													T	175436475	C	T	175436475	3	4	214	1	0	0	0	0	1	0	0	0	17364	536	19	1	469	1	WIPF1	2	175436475	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	4844845	175436475	67762898	16	113017											
TTN	7273	broad.mit.edu	37	chr2	179433173	179433173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcaaatttaacaggtcCttttggaggatcaggtttat	9	6	3	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:179433173C>T	uc010zfg.1	-	275	70206	c.69982G>A	c.(69982-69984)GGA>AGA	p.G23328R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17023R|TTN_uc010zfi.1_Missense_Mutation_p.G16956R|TTN_uc010zfj.1_Missense_Mutation_p.G16831R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24255							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACAGGTCCTTTTGGAGGA	0.408													T	179433173	C	T	179433173	3	4	214	1	0	0	0	0	1	0	0	0	16732	690	24	4	30441	4	TTN	2	179433173	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	3996698	179433173	63766200	17	113018											
HECW2	57520	broad.mit.edu	37	chr2	197298041	197298041	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggtcatgttctctggcatgGagctctgggcggcaaggctc	16	10	3	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:197298041G>C	uc002utm.1	-	2	290	c.107C>G	c.(106-108)TCC>TGC	p.S36C		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	36					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						CTCTGGCATGGAGCTCTGGGC	0.592													C	197298041	G	C	197298041	3	2	214	1	0	0	0	0	1	0	0	0	7043	1174	41	5	4723	5	HECW2	2	197298041	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	17864868	197298041	45901332	18	113019											
PID1	55022	broad.mit.edu	37	chr2	229890556	229890556	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cattgatctccctgtagaccCaggcgaagatgttggggctc	12	11	1	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:229890556C>G	uc002vpr.3	-	3	583	c.545G>C	c.(544-546)TGG>TCG	p.W182S	PID1_uc002vps.3_Missense_Mutation_p.W180S|PID1_uc002vpt.3_Missense_Mutation_p.W149S|PID1_uc002vpu.3_Missense_Mutation_p.W100S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	182	PID.					cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCTGTAGACCCAGGCGAAGAT	0.607													G	229890556	C	G	229890556	3	3	214	1	0	0	0	0	1	0	0	0	11882	595	21	5	211	5	PID1	2	229890556	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	32592515	229890556	13308817	19	113020											
HDLBP	3069	broad.mit.edu	37	chr2	242206262	242206262	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcagcaaaactctcttggGtcaaaactgcaacggaactc	8	11	3	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr2:242206262G>C	uc002waz.2	-	3	251	c.23C>G	c.(22-24)ACC>AGC	p.T8S	HDLBP_uc002wba.2_Missense_Mutation_p.T8S|HDLBP_uc002wbb.2_Missense_Mutation_p.T29S|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	8					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		ACTCTCTTGGGTCAAAACTGC	0.448													C	242206262	G	C	242206262	3	2	214	1	0	0	0	0	1	0	0	0	7025	1261	44	5	3887	5	HDLBP	2	242206262	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	12315706	242206262	993111	20	113021											
NEK10	152110	broad.mit.edu	37	chr3	27326454	27326454	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actatgtacaacctatcatcTatataaatatcacaaaaggt	3	8	3	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr3:27326454T>A	uc003cdt.1	-	22	2064	c.1790_splice	c.e22-1	p.N597_splice	NEK10_uc003cds.1_Splice_Site	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3								ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						ACCTATCATCTATATAAATAT	0.383													A	27326454	T	A	27326454	5	1	214	1	0	0	0	0	0	0	1	0	10322	1536	53	5	366	5	NEK10	3	27326454	Splice_Site	SNP	T	TCGA-D7-6817-01A-11D-1882-08		27326454	170695976	21	113022											
ARPP21	10777	broad.mit.edu	37	chr3	35778692	35778692	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccctttgtgaatcccgaTggaactcctgcaatatacaa	7	12	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr3:35778692T>A	uc003cgb.2	+	16	1746	c.1482T>A	c.(1480-1482)GAT>GAA	p.D494E	ARPP21_uc003cga.2_Missense_Mutation_p.D440E|ARPP21_uc011axy.1_Missense_Mutation_p.D460E|ARPP21_uc003cgf.2_Missense_Mutation_p.D295E|ARPP21_uc003cgg.2_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	494						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						TGAATCCCGATGGAACTCCTG	0.542													A	35778692	T	A	35778692	3	1	214	1	0	0	0	0	1	0	0	0	978	1461	51	5	1549	5	ARPP21	3	35778692	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	8452238	35778692	162243738	22	113023											
MYRIP	25924	broad.mit.edu	37	chr3	40231533	40231533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgtgtcccaggtcccGggccctgcccaggaaccccc	11	19	0	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr3:40231533G>A	uc003cka.2	+	10	1379	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.R415Q|MYRIP_uc010hhw.2_Missense_Mutation_p.R326Q|MYRIP_uc011ayz.1_Missense_Mutation_p.R228Q|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	415	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCAGGTCCCGGGCCCTGCCC	0.637													A	40231533	G	A	40231533	3	1	214	1	0	0	0	0	1	0	0	0	10100	1116	39	1	1278	1	MYRIP	3	40231533	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	4452841	40231533	157790897	23	113024											
BSN	8927	broad.mit.edu	37	chr3	49689341	49689341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatatcctggaggaagaCgaagactctgctgagtggag	16	6	1	3	rs147936824		TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr3:49689341C>T	uc003cxe.3	+	5	2466	c.2352C>T	c.(2350-2352)GAC>GAT	p.D784D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	784					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGAGGAAGACGAAGACTCTG	0.597													T	49689341	C	T	49689341	2	4	214	1	0	0	0	0	0	0	0	1	1530	535	19	1		1	BSN	3	49689341	Silent	SNP	C	TCGA-D7-6817-01A-11D-1882-08	9457808	49689341	148333089	24	113025											
GPR128	84873	broad.mit.edu	37	chr3	100348472	100348472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcatcaagcacccctaCagagttctgcaggaatggtg	9	12	3	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr3:100348472C>T	uc003duc.2	+	2	414	c.146C>T	c.(145-147)ACA>ATA	p.T49I		NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	49	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						AGCACCCCTACAGAGTTCTGC	0.403													T	100348472	C	T	100348472	3	4	214	1	0	0	0	0	1	0	0	0	6641	478	17	4	152	4	GPR128	3	100348472	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	50659131	100348472	97673958	25	113026											
GP9	2815	broad.mit.edu	37	chr3	128780696	128780696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggctgtgggtggactgCaggggccacggactcacggc	19	10	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr3:128780696C>T	uc003elm.2	+	3	301	c.114C>T	c.(112-114)TGC>TGT	p.C38C		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	38	Extracellular (Potential).|LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)	GGGTGGACTGCAGGGGCCACG	0.697													T	128780696	C	T	128780696	2	4	214	1	0	0	0	0	0	0	0	1	6585	718	25	2		2	GP9	3	128780696	Silent	SNP	C	TCGA-D7-6817-01A-11D-1882-08	28432224	128780696	69241734	26	113027											
ZNF595	152687	broad.mit.edu	37	chr4	60041	60041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgagacagcagccaaacCcccaggtaggtgagactgaa	11	11	0	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr4:60041C>T	uc003fzv.1	+	3	377	c.221C>T	c.(220-222)CCC>CTC	p.P74L	ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.P74L|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	74					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		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)		GCAGCCAAACCCCCAGGTAGG	0.498													T	60041	C	T	60041	3	4	214	1	0	0	0	0	1	0	0	0	18022	623	22	4	231	4	ZNF595	4	60041	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		60041	191094235	27	113028											
HTT	3064	broad.mit.edu	37	chr4	3182315	3182315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaagctgatgcaggaaaAgagcttgaaacccaaaaaga	9	6	0	4			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr4:3182315A>C	uc011bvq.1	+	37	4837	c.4692A>C	c.(4690-4692)AAA>AAC	p.K1564N		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1562					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATGCAGGAAAAGAGCTTGAAA	0.458													C	3182315	A	C	3182315	3	2	214	1	0	0	0	0	1	0	0	0	7457	69	3	5	4828	5	HTT	4	3182315	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	3122274	3182315	187971961	28	113029											
SLIT2	9353	broad.mit.edu	37	chr4	20611744	20611744	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaatcatcactaacttGtcaaagcagtccactctgaa	4	13	4	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr4:20611744G>C	uc003gpr.1	+	34	4005	c.3801G>C	c.(3799-3801)TTG>TTC	p.L1267F	SLIT2_uc003gps.1_Missense_Mutation_p.L1259F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1267	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			central_nervous_system(4)|skin(4)|ovary(3)	11						TCACTAACTTGTCAAAGCAGT	0.443													C	20611744	G	C	20611744	3	2	214	1	0	0	0	0	1	0	0	0	14740	1368	48	5	3935	5	SLIT2	4	20611744	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	17429429	20611744	170542532	29	113030											
CWH43	80157	broad.mit.edu	37	chr4	48994096	48994096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatagccacacttgatcGtattggcacaggtaatactg	9	10	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr4:48994096G>A	uc003gyv.2	+	4	682	c.500G>A	c.(499-501)CGT>CAT	p.R167H	CWH43_uc011bzl.1_Missense_Mutation_p.R140H	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	167					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ACACTTGATCGTATTGGCACA	0.373													A	48994096	G	A	48994096	3	1	214	1	0	0	0	0	1	0	0	0	4073	1145	40	1	514	1	CWH43	4	48994096	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	28382352	48994096	142160180	30	113031											
PPAT	5471	broad.mit.edu	37	chr4	57261654	57261654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgttttttaaactttAtcccttcttgtacagatgaa	4	8	2	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr4:57261654A>G	uc003hbr.2	-	11	1620	c.1418T>C	c.(1417-1419)ATA>ACA	p.I473T		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	473					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TTTAAACTTTATCCCTTCTTG	0.338													G	57261654	A	G	57261654	3	3	214	1	0	0	0	0	1	0	0	0	12302	449	16	3	139	3	PPAT	4	57261654	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	8267558	57261654	133892622	31	113032											
GPRIN3	285513	broad.mit.edu	37	chr4	90170079	90170079	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agactcagctgcagctgcctGaatgtgcacctgtggcatga	12	11	1	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr4:90170079G>C	uc003hsm.1	-	2	1702	c.1183C>G	c.(1183-1185)CAG>GAG	p.Q395E		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	395										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCAGCTGCCTGAATGTGCACC	0.557													C	90170079	G	C	90170079	3	2	214	1	0	0	0	0	1	0	0	0	6731	1299	45	5	1151	5	GPRIN3	4	90170079	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	32908425	90170079	100984197	32	113033											
KIAA0947	23379	broad.mit.edu	37	chr5	5462426	5462426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggccacagatctggaCtccagtgggacacatggcag	12	13	2	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr5:5462426C>A	uc003jdm.3	+	13	3201	c.2979C>A	c.(2977-2979)GAC>GAA	p.D993E		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	993										ovary(1)|central_nervous_system(1)	2						CAGATCTGGACTCCAGTGGGA	0.517													A	5462426	C	A	5462426	3	1	214	1	0	0	0	0	1	0	0	0	8202	564	20	5	3029	5	KIAA0947	5	5462426	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		5462426	175452834	33	113034											
MTMR12	54545	broad.mit.edu	37	chr5	32233887	32233887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacatcttactttgaagcGcattcctttccgttggcctt	8	11	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr5:32233887G>A	uc003jhq.2	-	15	1836	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	MTMR12_uc010iuk.2_Intron|MTMR12_uc010iul.2_Intron	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	556	Myotubularin phosphatase.|Interaction with MTM1.					cytoplasm	phosphatase activity			ovary(1)	1						ACTTTGAAGCGCATTCCTTTC	0.473													A	32233887	G	A	32233887	3	1	214	1	0	0	0	0	1	0	0	0	9941	1087	38	1	585	1	MTMR12	5	32233887	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	26771461	32233887	148681373	34	113035											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741222	140741222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttatcctacgtgtccgTgagcgcgcagagcggggtgg	16	9	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr5:140741222T>C	uc003ljs.1	+	1	1520	c.1520T>C	c.(1519-1521)GTG>GCG	p.V507A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.V507A|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	507	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGTGTCCGTGAGCGCGCAG	0.647													C	140741222	T	C	140741222	3	2	214	1	0	0	0	0	1	0	0	0	11563	1696	59	3	1522	3	PCDHGB2	5	140741222	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	108507335	140741222	40174038	35	113036											
EBF1	1879	broad.mit.edu	37	chr5	158141175	158141175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaccagatccgcagcccTtttgagtattacttcctgtc	6	13	1	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr5:158141175T>C	uc010jip.2	-	12	1443	c.1141A>G	c.(1141-1143)AGG>GGG	p.R381G	EBF1_uc011ddw.1_Missense_Mutation_p.R249G|EBF1_uc011ddx.1_Missense_Mutation_p.R382G|EBF1_uc003lxl.3_Missense_Mutation_p.R350G	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	381					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	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)			TCCGCAGCCCTTTTGAGTATT	0.478			T	HMGA2	lipoma								C	158141175	T	C	158141175	3	2	214	1	0	0	0	0	1	0	0	0	4880	1608	56	3	654	3	EBF1	5	158141175	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	17399953	158141175	22774085	36	113037											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184287	26184287	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcgcattacaacaagcgctcGaccatcacctccagggagat	9	14	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:26184287G>C	uc003ngt.2	+	1	264	c.264G>C	c.(262-264)TCG>TCC	p.S88S		NM_003523	NP_003514	P62807	H2B1C_HUMAN	histone cluster 1, H2be	88					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						ACAAGCGCTCGACCATCACCT	0.607													C	26184287	G	C	26184287	2	2	214	1	0	0	0	0	0	0	0	1	7144	1045	37	5		5	HIST1H2BE	6	26184287	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08		26184287	144930780	37	113038											
ZNF192	7745	broad.mit.edu	37	chr6	28120096	28120096	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcgagaggagtggcttcttGatccatcacagaaggatctg	12	8	3	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:28120096G>C	uc003nkn.1	+	5	893	c.709G>C	c.(709-711)GAT>CAT	p.D237H	ZNF192_uc010jqx.1_Missense_Mutation_p.D237H|ZNF192_uc010jqy.1_Missense_Mutation_p.D50H|ZNF192_uc011dkz.1_Missense_Mutation_p.D50H	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	237	KRAB.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTGGCTTCTTGATCCATCACA	0.438													C	28120096	G	C	28120096	3	2	214	1	0	0	0	0	1	0	0	0	17753	1290	45	5	723	5	ZNF192	6	28120096	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	1935809	28120096	142994971	38	113039											
SYNGAP1	8831	broad.mit.edu	37	chr6	33403335	33403335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctttgcctgtcggtctgCggccgaaagagacaaatgga	13	9	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:33403335C>T	uc011dri.1	+	7	902	c.707C>T	c.(706-708)GCG>GTG	p.A236V	SYNGAP1_uc003oeo.1_Missense_Mutation_p.A221V|SYNGAP1_uc010juy.2_Missense_Mutation_p.A221V|SYNGAP1_uc010juz.2_5'Flank	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	236	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TGTCGGTCTGCGGCCGAAAGA	0.507													T	33403335	C	T	33403335	3	4	214	1	0	0	0	0	1	0	0	0	15444	768	27	1	733	1	SYNGAP1	6	33403335	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	5283239	33403335	137711732	39	113040											
DNAH8	1769	broad.mit.edu	37	chr6	38877309	38877309	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aataggttggtgagaagttcCgtgcccgttctttgaaattt	11	6	1	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:38877309C>G	uc003ooe.1	+	63	9478	c.8878C>G	c.(8878-8880)CGT>GGT	p.R2960G	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8									p.R2960R(1)		skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGAGAAGTTCCGTGCCCGTTC	0.338													G	38877309	C	G	38877309	3	3	214	1	0	0	0	0	1	0	0	0	4607	652	23	5	9120	5	DNAH8	6	38877309	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	5473974	38877309	132237758	40	113041											
GPR115	221393	broad.mit.edu	37	chr6	47680166	47680166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattctagactttcgagctcCagagaccattgagagtgtag	10	8	1	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:47680166C>A	uc003oza.1	+	5	632	c.374C>A	c.(373-375)CCA>CAA	p.P125Q	GPR115_uc003oyz.1_Missense_Mutation_p.P182Q|GPR115_uc003ozb.1_Missense_Mutation_p.P123Q	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	125	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						TTTCGAGCTCCAGAGACCATT	0.433													A	47680166	C	A	47680166	3	1	214	1	0	0	0	0	1	0	0	0	6632	594	21	5	388	5	GPR115	6	47680166	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	8802857	47680166	123434901	41	113042											
FHL5	9457	broad.mit.edu	37	chr6	97051544	97051544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcacttcttgggaagAaatatgtactaaaggatgac	9	7	2	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:97051544A>C	uc003pos.1	+	3	460	c.55A>C	c.(55-57)AAA>CAA	p.K19Q	FHL5_uc003pot.1_Missense_Mutation_p.K19Q	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	19	C4-type (Potential).					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TCTTGGGAAGAAATATGTACT	0.338													C	97051544	A	C	97051544	3	2	214	1	0	0	0	0	1	0	0	0	5881	247	9	5	57	5	FHL5	6	97051544	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	49371378	97051544	74063523	42	113043											
EYA4	2070	broad.mit.edu	37	chr6	133783490	133783490	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggccctatccacacattcTttctacaccagcagctcaaa	4	15	3	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:133783490T>G	uc003qec.3	+	8	913	c.455T>G	c.(454-456)CTT>CGT	p.L152R	EYA4_uc011ecq.1_Missense_Mutation_p.L98R|EYA4_uc011ecr.1_Missense_Mutation_p.L98R|EYA4_uc003qed.3_Missense_Mutation_p.L152R|EYA4_uc003qee.3_Missense_Mutation_p.L129R|EYA4_uc011ecs.1_Missense_Mutation_p.L152R|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	152			L -> R (in a colorectal cancer sample; somatic mutation).		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	p.L152R(1)		large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACACATTCTTTCTACACCA	0.448													G	133783490	T	G	133783490	3	3	214	1	0	0	0	0	1	0	0	0	5331	1609	56	5	481	5	EYA4	6	133783490	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	36731946	133783490	37331577	43	113044											
ESR1	2099	broad.mit.edu	37	chr6	152265607	152265607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacctggcagacagggagCtggttcacatgatcaactgg	12	11	2	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:152265607C>A	uc003qom.3	+	6	1430	c.1060C>A	c.(1060-1062)CTG>ATG	p.L354M	ESR1_uc010kin.2_Missense_Mutation_p.L354M|ESR1_uc010kio.2_Missense_Mutation_p.L356M|ESR1_uc010kip.2_Missense_Mutation_p.L353M|ESR1_uc003qon.3_Missense_Mutation_p.L354M|ESR1_uc003qoo.3_Missense_Mutation_p.L354M|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Missense_Mutation_p.L135M|ESR1_uc010kit.1_Missense_Mutation_p.L91M|ESR1_uc011eey.1_Missense_Mutation_p.L91M	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	354	Steroid-binding.|Interaction with AKAP13.				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			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		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)	AGACAGGGAGCTGGTTCACAT	0.498													A	152265607	C	A	152265607	3	1	214	1	0	0	0	0	1	0	0	0	5256	796	28	5	1074	5	ESR1	6	152265607	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	18482117	152265607	18849460	44	113045											
THBS2	7058	broad.mit.edu	37	chr6	169632105	169632105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaggtggcgttggtggcGcagaccagattgaggttggg	20	5	0	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr6:169632105G>A	uc003qwt.2	-	14	2369	c.2121C>T	c.(2119-2121)TGC>TGT	p.C707C		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	707	TSP type-3 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CGTTGGTGGCGCAGACCAGAT	0.692													A	169632105	G	A	169632105	2	1	214	1	0	0	0	0	0	0	0	1	15851	1079	38	1		1	THBS2	6	169632105	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	17366498	169632105	1482962	45	113046											
MAD1L1	8379	broad.mit.edu	37	chr7	2262355	2262355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgaagctgccggatgCgcgtcaggagctcctggttg	15	12	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr7:2262355C>T	uc003slh.1	-	5	592	c.326G>A	c.(325-327)CGC>CAC	p.R109H	MAD1L1_uc003slf.1_Missense_Mutation_p.R109H|MAD1L1_uc003slg.1_Missense_Mutation_p.R109H|MAD1L1_uc010ksh.1_Missense_Mutation_p.R109H|MAD1L1_uc003sli.1_5'UTR|MAD1L1_uc010ksi.1_Missense_Mutation_p.R62H|MAD1L1_uc010ksj.2_Missense_Mutation_p.R109H	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	109	Potential.				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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTGCCGGATGCGCGTCAGGAG	0.657													T	2262355	C	T	2262355	3	4	214	1	0	0	0	0	1	0	0	0	9147	768	27	1	1890	1	MAD1L1	7	2262355	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		2262355	156876308	46	113047											
EPDR1	54749	broad.mit.edu	37	chr7	37960772	37960772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcaaccagcgcgtgcgGgtgctggacgagaggaaggc	19	10	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr7:37960772G>A	uc003tfp.2	+	1	610	c.591G>A	c.(589-591)CGG>CGA	p.R197R	EPDR1_uc003tfq.2_Silent_p.R197R|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	77					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						AGCGCGTGCGGGTGCTGGACG	0.701													A	37960772	G	A	37960772	2	1	214	1	0	0	0	0	0	0	0	1	5163	1219	43	4		4	EPDR1	7	37960772	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	35698417	37960772	121177891	47	113048											
PHTF2	57157	broad.mit.edu	37	chr7	77523312	77523312	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagtttattaaactggTaagtgtttcaggatttttcc	8	5	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr7:77523312T>G	uc003ugs.3	+	4	342	c.216_splice	c.e4+2	p.L72_splice	PHTF2_uc003ugo.3_Intron|PHTF2_uc003ugp.2_Intron|PHTF2_uc003ugq.3_Intron|PHTF2_uc010ldv.2_Intron|PHTF2_uc003ugr.3_Splice_Site_p.L38_splice|PHTF2_uc003ugt.3_Splice_Site_p.L38_splice|PHTF2_uc003ugu.3_Intron	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						ATTAAACTGGTAAGTGTTTCA	0.398													G	77523312	T	G	77523312	5	3	214	1	0	0	0	0	0	0	1	0	11863	1652	57	5	126	5	PHTF2	7	77523312	Splice_Site	SNP	T	TCGA-D7-6817-01A-11D-1882-08	39562540	77523312	81615351	48	113049											
AKAP9	10142	broad.mit.edu	37	chr7	91570197	91570198	+	Translation_Start_Site	INS	-	-	GGC													gtttacgtggagacgaagatINSggcggcggcggcggcggtga							TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr7:91570197_91570198insGGC	uc003ulg.2	+	1	9_10	c.-216_-215insGGC	c.(-218--213)GATGGC>GATGGCGGC		AKAP9_uc003uld.3_Translation_Start_Site|AKAP9_uc003ule.2_Translation_Start_Site|AKAP9_uc003ulf.2_Translation_Start_Site	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			GAGACGAAGATggcggcggcgg	0.629			T	BRAF	papillary thyroid								GGC	91570198	-	GGC	91570197	6	5	214	1	0	1	1	0	0	0	0	0	459	1479	51	0		0	AKAP9	7	91570197	Translation_Start_Site	INS	-	TCGA-D7-6817-01A-11D-1882-08	14046885	91570197	67568466	49	113050											
ANK1	286	broad.mit.edu	37	chr8	41530028	41530034	+	Frame_Shift_Del	DEL	TCTGACC	TCTGACC	-													tagaacctggcagcttctctTctgacctctgaccttcctcc							TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:41530027_41530033TTCTGACC>T	uc003xok.3	-	37	5019_5025	c.4935_4941GGTCAGAA>A	c.(4933-4941)aggtcagaafs	p.R1645fs	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Frame_Shift_Del_p.R1645fs|ANK1_uc003xoj.3_Frame_Shift_Del_p.R1645fs|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Frame_Shift_Del_p.R1686fs	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1645	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCTTCTCTTCTGACCTCTGACCTT	0.541													-	41530034	TCTGACC	-	41530028	7	5	214	1	0	1	0	1	0	0	0	0	620	1783	62	0	1051	0	ANK1	8	41530028	Frame_Shift_Del	DEL	TCTGACC	TCGA-D7-6817-01A-11D-1882-08		41530028	104833994	50	113051											
PREX2	80243	broad.mit.edu	37	chr8	68930132	68930133	+	Nonsense_Mutation	DNP	GT	GT	TA													catcaaaagttgacaaaaatGtgacagaagaaacagtgaag							TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:68930132_68930133GT>TA	uc003xxv.1	+	2	220_221	c.193_194GT>TA	c.(193-195)GTG>TAG	p.V65*	PREX2_uc003xxu.1_Nonsense_Mutation_p.V65*|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	65	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGACAAAAATGTGACAGAAGAA	0.396													TA	68930133	GT	TA	68930132	4	4	214	1	0	0	0	0	0	1	0	0	12477	1377	48	5	199	5	PREX2	8	68930132	Nonsense_Mutation	DNP	GT	TCGA-D7-6817-01A-11D-1882-08	27400104	68930132	77433890	51	113052											
PREX2	80243	broad.mit.edu	37	chr8	68982086	68982086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagggtgtaagattatattGtcgtcttcatagccttttta	9	5	2	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:68982086G>T	uc003xxv.1	+	13	1487	c.1460G>T	c.(1459-1461)TGT>TTT	p.C487F	PREX2_uc003xxu.1_Missense_Mutation_p.C487F|PREX2_uc011lez.1_Missense_Mutation_p.C422F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	487					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AGATTATATTGTCGTCTTCAT	0.299													T	68982086	G	T	68982086	3	4	214	1	0	0	0	0	1	0	0	0	12477	1377	48	5	1510	5	PREX2	8	68982086	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	51954	68982086	77381936	52	113053											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594509	70594509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagactggctcatactcGtgtattttacaaccacaatt	5	12	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:70594509G>T	uc003xyl.2	-	7	2399	c.1692C>A	c.(1690-1692)CAC>CAA	p.H564Q	SLCO5A1_uc010lzb.2_Missense_Mutation_p.H509Q|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.H564Q	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	564	Extracellular (Potential).|Kazal-like.					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCTCATACTCGTGTATTTTAC	0.433													T	70594509	G	T	70594509	3	4	214	1	0	0	0	0	1	0	0	0	14731	1136	40	5	870	5	SLCO5A1	8	70594509	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	1612423	70594509	75769513	53	113054											
ZFHX4	79776	broad.mit.edu	37	chr8	77690640	77690640	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacaacctcagtgagaTcttttttgttaaagattgcc	10	7	2	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:77690640T>A	uc003yav.2	+	4	3599	c.3212T>A	c.(3211-3213)ATC>AAC	p.I1071N	ZFHX4_uc003yau.1_Missense_Mutation_p.I1097N|ZFHX4_uc003yaw.1_Missense_Mutation_p.I1071N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1071						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCAGTGAGATCTTTTTTGTT	0.502										HNSCC(33;0.089)			A	77690640	T	A	77690640	3	1	214	1	0	0	0	0	1	0	0	0	17632	1435	50	5	3300	5	ZFHX4	8	77690640	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	7096131	77690640	68673382	54	113055											
SLC26A7	115111	broad.mit.edu	37	chr8	92355626	92355626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagtttcttcatttttcTtctgcataccaagtgctgct	5	9	4	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:92355626T>G	uc003yex.2	+	10	1350	c.1072T>G	c.(1072-1074)TTC>GTC	p.F358V	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.F358V|SLC26A7_uc003yfa.2_Missense_Mutation_p.F358V	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	358	Helical; (Potential).					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			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCATTTTTCTTCTGCATACC	0.428													G	92355626	T	G	92355626	3	3	214	1	0	0	0	0	1	0	0	0	14522	1609	56	5	1102	5	SLC26A7	8	92355626	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	14664986	92355626	54008396	55	113056											
EIF3H	8667	broad.mit.edu	37	chr8	117671101	117671101	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctggtaactaaactgAgagtccaggagtgcccgggt	14	9	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:117671101A>G	uc003yoa.2	-	3	434	c.408T>C	c.(406-408)TCT>TCC	p.S136S	EIF3H_uc003yob.2_Silent_p.S150S|EIF3H_uc011lhz.1_Silent_p.S136S	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	136	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AACTAAACTGAGAGTCCAGGA	0.413													G	117671101	A	G	117671101	2	3	214	1	0	0	0	0	0	0	0	1	5018	291	11	3		3	EIF3H	8	117671101	Silent	SNP	A	TCGA-D7-6817-01A-11D-1882-08	25315475	117671101	28692921	56	113057											
COL14A1	7373	broad.mit.edu	37	chr8	121256184	121256184	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgatactgaatacaaaGtcacagtgactcccatctac	5	12	2	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr8:121256184G>C	uc003yox.2	+	20	2681	c.2416G>C	c.(2416-2418)GTC>CTC	p.V806L	COL14A1_uc003yoy.2_Missense_Mutation_p.V484L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	806	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TGAATACAAAGTCACAGTGAC	0.488													C	121256184	G	C	121256184	3	2	214	1	0	0	0	0	1	0	0	0	3671	1029	36	5	2490	5	COL14A1	8	121256184	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	3585083	121256184	25107838	57	113058											
TLE4	7091	broad.mit.edu	37	chr9	82335006	82335006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagattgctccctgatggtCgcaccctaattgttggaggg	13	10	0	2	rs140356709		TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr9:82335006C>T	uc004ald.2	+	17	2560	c.1711C>T	c.(1711-1713)CGC>TGC	p.R571C	TLE4_uc004alc.2_Missense_Mutation_p.R546C|TLE4_uc010mpr.2_Missense_Mutation_p.R425C|TLE4_uc004ale.2_Missense_Mutation_p.R183C|TLE4_uc011lsq.1_Missense_Mutation_p.R514C|TLE4_uc010mps.2_Missense_Mutation_p.R470C|TLE4_uc004alf.2_Missense_Mutation_p.R485C	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment								p.R546C(1)		lung(2)|ovary(1)|breast(1)|skin(1)	5						CCCTGATGGTCGCACCCTAAT	0.517													T	82335006	C	T	82335006	3	4	214	1	0	0	0	0	1	0	0	0	15938	884	31	1	1698	1	TLE4	9	82335006	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		82335006	58878425	58	113059											
PAPPA	5069	broad.mit.edu	37	chr9	118974146	118974146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtggtgacccagggccagGaaatgacacctgtggctttc	13	11	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr9:118974146G>T	uc004bjn.2	+	4	2234	c.1853G>T	c.(1852-1854)GGA>GTA	p.G618V	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	618					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CCAGGGCCAGGAAATGACACC	0.532													T	118974146	G	T	118974146	3	4	214	1	0	0	0	0	1	0	0	0	11432	1174	41	5	1867	5	PAPPA	9	118974146	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	36639140	118974146	22239285	59	113060											
ZNF33B	7582	broad.mit.edu	37	chr10	43089832	43089832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaaacttcatttttcTctcgagtatgagtttcatca	4	8	5	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr10:43089832T>C	uc001jaf.1	-	5	681	c.566A>G	c.(565-567)GAG>GGG	p.E189G	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E77G|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	189						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTCATTTTTCTCTCGAGTATG	0.323													C	43089832	T	C	43089832	3	2	214	1	0	0	0	0	1	0	0	0	17852	1551	54	3	1774	3	ZNF33B	10	43089832	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08		43089832	92444915	60	113061											
CDHR1	92211	broad.mit.edu	37	chr10	85962839	85962839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcccctgtcttcgtggGcacaccctactatggctatg	10	14	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr10:85962839G>A	uc001kcv.2	+	8	743	c.743G>A	c.(742-744)GGC>GAC	p.G248D	CDHR1_uc001kcw.2_Missense_Mutation_p.G248D|CDHR1_uc009xst.2_Missense_Mutation_p.G7D	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	248	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GTCTTCGTGGGCACACCCTAC	0.612													A	85962839	G	A	85962839	3	1	214	1	0	0	0	0	1	0	0	0	3118	1203	42	2	773	2	CDHR1	10	85962839	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	42873007	85962839	49571908	61	113062											
CEP55	55165	broad.mit.edu	37	chr10	95276832	95276832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatatgaagaaacccaaAaagaagttcacaatttaaat	5	5	1	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr10:95276832A>G	uc009xug.2	+	6	1002	c.820A>G	c.(820-822)AAA>GAA	p.K274E	CEP55_uc001kiq.3_Missense_Mutation_p.K274E	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	274	Potential.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				AGAAACCCAAAAAGAAGTTCA	0.358													G	95276832	A	G	95276832	3	3	214	1	0	0	0	0	1	0	0	0	3255	15	1	3	838	3	CEP55	10	95276832	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	9313993	95276832	40257915	62	113063											
TCERG1L	256536	broad.mit.edu	37	chr10	133106478	133106478	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttatttgggcaccaacctggGatgggctgaggtgctaacac	13	9	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr10:133106478G>C	uc001lkp.2	-	3	752	c.666C>G	c.(664-666)ATC>ATG	p.I222M		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	222										large_intestine(2)|ovary(2)	4		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)		ACCAACCTGGGATGGGCTGAG	0.453													C	133106478	G	C	133106478	3	2	214	1	0	0	0	0	1	0	0	0	15683	1164	41	5	1134	5	TCERG1L	10	133106478	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	37829646	133106478	2428269	63	113064											
NUP98	4928	broad.mit.edu	37	chr11	3716751	3716751	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgcttggagctgatgCcagtccaccaactgcatggt	12	11	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr11:3716751C>T	uc001lyh.2	-	26	4386	c.4095G>A	c.(4093-4095)TGG>TGA	p.W1365*	NUP98_uc001lyi.2_Nonsense_Mutation_p.W1365*|NUP98_uc001lyg.2_Nonsense_Mutation_p.W330*	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1382					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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		GGAGCTGATGCCAGTCCACCA	0.483			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3716751	C	T	3716751	4	4	214	1	0	0	0	0	0	1	0	0	10773	740	26	2	1339	2	NUP98	11	3716751	Nonsense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		3716751	131289765	64	113065											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45924104	45924104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggggtcggggccactcGcatcgagaccgaatccacta	13	14	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr11:45924104G>A	uc001nbr.2	+	5	956	c.786G>A	c.(784-786)TCG>TCA	p.S262S		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	262	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		GGGGCCACTCGCATCGAGACC	0.687													A	45924104	G	A	45924104	2	1	214	1	0	0	0	0	0	0	0	1	9284	1074	38	1		1	MAPK8IP1	11	45924104	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	42207353	45924104	89082412	65	113066											
ACTN3	89	broad.mit.edu	37	chr11	66330310	66330310	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgaccatggtggaccccaAcgcagctggggtggtgacct	14	12	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr11:66330310A>T	uc001oio.1	+	21	2450	c.2432A>T	c.(2431-2433)AAC>ATC	p.N811I	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	811	EF-hand 2.|2; possibly ancestral.				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				0						GTGGACCCCAACGCAGCTGGG	0.567													T	66330310	A	T	66330310	3	4	214	1	0	0	0	0	1	0	0	0	206	43	2	5	2510	5	ACTN3	11	66330310	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	20406206	66330310	68676206	66	113067											
ODZ4	26011	broad.mit.edu	37	chr11	78387401	78387401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgcaaggagccatcGgccccgatgtagtagctgtt	13	12	0	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr11:78387401G>A	uc001ozl.3	-	30	5755	c.5292C>T	c.(5290-5292)GCC>GCT	p.A1764A	ODZ4_uc001ozk.3_5'UTR|ODZ4_uc009yvb.1_Silent_p.A348A	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1764	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AGGAGCCATCGGCCCCGATGT	0.627													A	78387401	G	A	78387401	2	1	214	1	0	0	0	0	0	0	0	1	10837	1103	39	1		1	ODZ4	11	78387401	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	12057091	78387401	56619115	67	113068											
PGR	5241	broad.mit.edu	37	chr11	100999722	100999722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggctgggcgacacagcAgtggggatccgacctcgggg	18	12	0	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr11:100999722A>G	uc001pgh.2	-	1	823	c.80T>C	c.(79-81)CTG>CCG	p.L27P	PGR_uc001pgi.2_Missense_Mutation_p.L27P|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	27	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			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		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)	GCGACACAGCAGTGGGGATCC	0.667													G	100999722	A	G	100999722	3	3	214	1	0	0	0	0	1	0	0	0	11805	188	7	3	2753	3	PGR	11	100999722	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	22612321	100999722	34006794	68	113069											
LRRK2	120892	broad.mit.edu	37	chr12	40689398	40689398	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggagcatcttgaaaagctGgagcttcaccagaatgcact	10	9	2	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr12:40689398G>T	uc001rmg.3	+	23	3169	c.3048G>T	c.(3046-3048)CTG>CTT	p.L1016L	LRRK2_uc001rmh.1_Silent_p.L638L|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1016	LRR 2.				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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGAAAAGCTGGAGCTTCACC	0.363													T	40689398	G	T	40689398	2	4	214	1	0	0	0	0	0	0	0	1	9033	1335	47	5		5	LRRK2	12	40689398	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08		40689398	93162497	69	113070											
ANKRD52	283373	broad.mit.edu	37	chr12	56650822	56650822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttcgggaggcagcagcacGatgaagaggggtcagccaca	16	9	1	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr12:56650822G>A	uc001skm.3	-	4	328	c.238C>T	c.(238-240)CGT>TGT	p.R80C	ANKRD52_uc001skn.1_RNA	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	80	ANK 3.						protein binding			ovary(2)	2						GCAGCAGCACGATGAAGAGGG	0.488													A	56650822	G	A	56650822	3	1	214	1	0	0	0	0	1	0	0	0	678	1058	37	1	3092	1	ANKRD52	12	56650822	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	15961424	56650822	77201073	70	113071											
FZD10	11211	broad.mit.edu	37	chr12	130648028	130648028	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacagcgcgcaggagcacCcgctgaaggacgggggcccc	15	17	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr12:130648028C>G	uc001uii.2	+	1	997	c.541C>G	c.(541-543)CCG>GCG	p.P181A	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	181	Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		GCAGGAGCACCCGCTGAAGGA	0.652													G	130648028	C	G	130648028	3	3	214	1	0	0	0	0	1	0	0	0	6129	623	22	5	543	5	FZD10	12	130648028	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	73997206	130648028	3203867	71	113072											
MTUS2	23281	broad.mit.edu	37	chr13	29933476	29933476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcccgtgaggctgagCggcagctggtgctgcggctg	19	12	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr13:29933476C>T	uc001usl.3	+	6	3071	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	995	Localization to the growing distal tip of microtubules.|Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TGAGGCTGAGCGGCAGCTGGT	0.627													T	29933476	C	T	29933476	3	4	214	1	0	0	0	0	1	0	0	0	9966	759	27	1	3035	1	MTUS2	13	29933476	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		29933476	85236402	72	113073											
FRY	10129	broad.mit.edu	37	chr13	32869526	32869526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatccgggacatgatcCgcagggcccagagttaccga	14	11	0	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr13:32869526C>T	uc001utx.2	+	61	9467	c.8971C>T	c.(8971-8973)CGC>TGC	p.R2991C	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.R522C|FRY_uc010tdx.1_Missense_Mutation_p.R361C	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		GGACATGATCCGCAGGGCCCA	0.567													T	32869526	C	T	32869526	3	4	214	1	0	0	0	0	1	0	0	0	6063	652	23	1	9213	1	FRY	13	32869526	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	2936050	32869526	82300352	73	113074											
ATP7B	540	broad.mit.edu	37	chr13	52509058	52509058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggccctgggggagtccCgccacctgtcatccatgcct	13	15	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr13:52509058C>T	uc001vfw.2	-	21	4389	c.4232G>A	c.(4231-4233)CGG>CAG	p.R1411Q	ATP7B_uc010adv.2_Missense_Mutation_p.R981Q|ATP7B_uc001vfx.2_Missense_Mutation_p.R1204Q|ATP7B_uc001vfy.2_Missense_Mutation_p.R1300Q|ATP7B_uc010tgt.1_Missense_Mutation_p.R1346Q|ATP7B_uc010tgu.1_Missense_Mutation_p.R1363Q|ATP7B_uc010tgv.1_Missense_Mutation_p.R1333Q|ATP7B_uc001vfv.2_Missense_Mutation_p.R683Q|ATP7B_uc010tgs.1_Missense_Mutation_p.R622Q	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1411	Cytoplasmic (Potential).				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	p.R1411W(1)		ovary(1)|central_nervous_system(1)|skin(1)	3		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)		GGGGGAGTCCCGCCACCTGTC	0.627									Wilson_disease				T	52509058	C	T	52509058	3	4	214	1	0	0	0	0	1	0	0	0	1191	652	23	1	169	1	ATP7B	13	52509058	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	19639532	52509058	62660820	74	113075											
LRRC16B	90668	broad.mit.edu	37	chr14	24538052	24538052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggctgtgcccaggggcCgccagcctccccaggagcca	14	17	0	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr14:24538052C>T	uc001wlj.2	+	38	4016	c.3859C>T	c.(3859-3861)CGC>TGC	p.R1287C	LRRC16B_uc001wlk.2_Missense_Mutation_p.R340C|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1287										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		GCCCAGGGGCCGCCAGCCTCC	0.642													T	24538052	C	T	24538052	3	4	214	1	0	0	0	0	1	0	0	0	8972	652	23	1	4009	1	LRRC16B	14	24538052	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		24538052	82811488	75	113076											
NYNRIN	57523	broad.mit.edu	37	chr14	24884910	24884910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgggctactgcttctacCgtgaggatgagtggtgtgct	15	8	1	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr14:24884910C>T	uc001wpf.3	+	9	4273	c.3955C>T	c.(3955-3957)CGT>TGT	p.R1319C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1319					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						CTGCTTCTACCGTGAGGATGA	0.592													T	24884910	C	T	24884910	3	4	214	1	0	0	0	0	1	0	0	0	10796	652	23	1	3985	1	NYNRIN	14	24884910	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	346858	24884910	82464630	76	113077											
COCH	1690	broad.mit.edu	37	chr14	31354637	31354637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctcagaaattcttcacGgtagatgctggagtaagaaa	10	7	3	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr14:31354637G>A	uc001wqr.2	+	10	851	c.771G>A	c.(769-771)ACG>ACA	p.T257T	COCH_uc001wqp.2_Silent_p.T257T|COCH_uc001wqq.3_Silent_p.T257T|uc001wqs.2_RNA|COCH_uc001wqt.1_Silent_p.T108T	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	257	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	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;0.00645)		AATTCTTCACGGTAGATGCTG	0.433													A	31354637	G	A	31354637	2	1	214	1	0	0	0	0	0	0	0	1	3656	1103	39	1		1	COCH	14	31354637	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	6469727	31354637	75994903	77	113078											
PELI2	57161	broad.mit.edu	37	chr14	56757012	56757012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaaagtggaaaaacccCgacggccacatggatgggct	13	11	0	0	rs146968853		TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr14:56757012C>T	uc001xch.2	+	5	820	c.534C>T	c.(532-534)CCC>CCT	p.P178P		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	178					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			ovary(1)	1						GGAAAAACCCCGACGGCCACA	0.517													T	56757012	C	T	56757012	2	4	214	1	0	0	0	0	0	0	0	1	11722	639	23	1		1	PELI2	14	56757012	Silent	SNP	C	TCGA-D7-6817-01A-11D-1882-08	25402375	56757012	50592528	78	113079											
ESR2	2100	broad.mit.edu	37	chr14	64746715	64746715	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttgaatgcttcttttAaaaaaggccttacatccttc	5	10	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr14:64746715A>T	uc001xha.1	-	3	987	c.519T>A	c.(517-519)TTT>TTA	p.F173L	ESR2_uc001xgu.2_Missense_Mutation_p.F173L|ESR2_uc001xgv.2_Missense_Mutation_p.F173L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.F173L|ESR2_uc001xgy.1_Missense_Mutation_p.F173L|ESR2_uc001xgz.1_Missense_Mutation_p.F173L|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Missense_Mutation_p.F173L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	173	Nuclear receptor.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGCTTCTTTTAAAAAAGGCCT	0.413													T	64746715	A	T	64746715	3	4	214	1	0	0	0	0	1	0	0	0	5257	359	13	5	1187	5	ESR2	14	64746715	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	7989703	64746715	42602825	79	113080											
ESRRB	2103	broad.mit.edu	37	chr14	76905997	76905997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaacgccatccccaagCgcctgtgcctcgtgtgcggg	12	16	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr14:76905997C>T	uc001xsq.1	+	2	368	c.301C>T	c.(301-303)CGC>TGC	p.R101C	ESRRB_uc001xsr.2_Missense_Mutation_p.R101C|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATCCCCAAGCGCCTGTGCCT	0.622													T	76905997	C	T	76905997	3	4	214	1	0	0	0	0	1	0	0	0	5261	768	27	1	303	1	ESRRB	14	76905997	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	12159282	76905997	30443543	80	113081											
STUB1	10273	broad.mit.edu	37	chr16	732036	732036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggacaagtacatggcggAcatggacgagcttttttctc	11	9	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr16:732036A>C	uc002cit.2	+	5	1040	c.629A>C	c.(628-630)GAC>GCC	p.D210A	STUB1_uc002ciu.2_Missense_Mutation_p.D138A|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	210					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				TACATGGCGGACATGGACGAG	0.582													C	732036	A	C	732036	3	2	214	1	0	0	0	0	1	0	0	0	15334	275	10	5	647	5	STUB1	16	732036	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08		732036	89622717	81	113082											
KIAA0430	9665	broad.mit.edu	37	chr16	15703512	15703512	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggcatccggaaatggggTtggtgacgcagcaaatcaac	14	8	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr16:15703512T>C	uc002ddr.2	-	20	4015	c.3822A>G	c.(3820-3822)CAA>CAG	p.Q1274Q	KIAA0430_uc002ddq.2_Silent_p.Q1108Q|KIAA0430_uc010uzv.1_Silent_p.Q1270Q|KIAA0430_uc010uzw.1_Silent_p.Q1273Q	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1273						peroxisome	nucleotide binding|RNA binding				0						GGAAATGGGGTTGGTGACGCA	0.403													C	15703512	T	C	15703512	2	2	214	1	0	0	0	0	0	0	0	1	8177	1722	60	3		3	KIAA0430	16	15703512	Silent	SNP	T	TCGA-D7-6817-01A-11D-1882-08	14971476	15703512	74651241	82	113083											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577120	C	T	7577120	3	4	214	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		7577120	73618090	83	113084											
MYH8	4626	broad.mit.edu	37	chr17	10300235	10300235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcttcgtcttctcaaggGaagcacatttggcgttcaca	10	11	3	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr17:10300235G>A	uc002gmm.2	-	31	4342	c.4247C>T	c.(4246-4248)TCC>TTC	p.S1416F	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1416	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CTTCTCAAGGGAAGCACATTT	0.498									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10300235	G	A	10300235	3	1	214	1	0	0	0	0	1	0	0	0	10041	1174	41	4	1606	4	MYH8	17	10300235	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	2723115	10300235	70894975	84	113085											
NOS2	4843	broad.mit.edu	37	chr17	26107840	26107840	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaggtcaggtgggatttcGaagagctcagggtcacggcc	15	9	3	1	rs34719207	byFrequency	TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr17:26107840G>A	uc002gzu.2	-	9	1221	c.957C>T	c.(955-957)TTC>TTT	p.F319F	NOS2_uc010crh.1_Silent_p.F319F|NOS2_uc010wab.1_Silent_p.F319F	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	319					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			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GTGGGATTTCGAAGAGCTCAG	0.607													A	26107840	G	A	26107840	2	1	214	1	0	0	0	0	0	0	0	1	10543	1049	37	1		1	NOS2	17	26107840	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	15807605	26107840	55087370	85	113086											
EVI2B	2124	broad.mit.edu	37	chr17	29631298	29631298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttataacagttctgcagGtggaggtggcagggattcat	13	5	2	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr17:29631298G>T	uc002hgk.2	-	2	1485	c.1330C>A	c.(1330-1332)CCT>ACT	p.P444T	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.P459T	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	444	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AGTTCTGCAGGTGGAGGTGGC	0.363													T	29631298	G	T	29631298	3	4	214	1	0	0	0	0	1	0	0	0	5288	1261	44	5	20	5	EVI2B	17	29631298	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	3523458	29631298	51563912	86	113087											
KIF2B	84643	broad.mit.edu	37	chr17	51900738	51900738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtaccgccacgaaatGggttgcgatgatcccccaga	11	14	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr17:51900738G>C	uc002iua.2	+	1	500	c.344G>C	c.(343-345)TGG>TCG	p.W115S	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	115					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			ovary(5)|skin(3)	8						GCCACGAAATGGGTTGCGATG	0.602													C	51900738	G	C	51900738	3	2	214	1	0	0	0	0	1	0	0	0	8298	1357	47	5	346	5	KIF2B	17	51900738	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	22269440	51900738	29294472	87	113088											
MRC2	9902	broad.mit.edu	37	chr17	60742129	60742129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcatgtatgagtgtgaCcgggaagcactgaatcttcg	14	8	1	3			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr17:60742129C>G	uc002jad.2	+	2	741	c.339C>G	c.(337-339)GAC>GAG	p.D113E	MRC2_uc002jac.2_Missense_Mutation_p.D113E	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	113	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ATGAGTGTGACCGGGAAGCAC	0.612													G	60742129	C	G	60742129	3	3	214	1	0	0	0	0	1	0	0	0	9758	506	18	5	345	5	MRC2	17	60742129	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	8841391	60742129	20453081	88	113089											
CANT1	124583	broad.mit.edu	37	chr17	76989937	76989937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcgctcctggctggcgcGgcgcggcaggaagaaccagc	17	13	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr17:76989937G>A	uc002jwn.2	-	6	1340	c.901C>T	c.(901-903)CGC>TGC	p.R301C	CANT1_uc002jwk.2_Missense_Mutation_p.R301C|CANT1_uc002jwj.2_Missense_Mutation_p.R301C|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	301	Lumenal (Potential).			R->A: Reduces activity by 99%.	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				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGGCTGGCGCGGCGCGGCAGG	0.667			T	ETV4	prostate								A	76989937	G	A	76989937	3	1	214	1	0	0	0	0	1	0	0	0	2617	1116	39	1	308	1	CANT1	17	76989937	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	16247808	76989937	4205273	89	113090											
TBXA2R	6915	broad.mit.edu	37	chr19	3600344	3600344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcagccagggtccacggCgtgccactcgaagagcgcgg	16	14	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr19:3600344C>T	uc002lyg.1	-	2	503	c.289G>A	c.(289-291)GCC>ACC	p.A97T	TBXA2R_uc002lye.1_Missense_Mutation_p.A97T	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	97	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	GGGTCCACGGCGTGCCACTCG	0.677													T	3600344	C	T	3600344	3	4	214	1	0	0	0	0	1	0	0	0	15660	768	27	1	995	1	TBXA2R	19	3600344	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08		3600344	55528639	90	113091											
MUC16	94025	broad.mit.edu	37	chr19	9063102	9063102	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagggtcagggaggatgttGgttctgtctgaattctgcta	14	6	4	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr19:9063102G>T	uc002mkp.2	-	3	24548	c.24344C>A	c.(24343-24345)CCA>CAA	p.P8115Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8117	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGGATGTTGGTTCTGTCTG	0.502													T	9063102	G	T	9063102	3	4	214	1	0	0	0	0	1	0	0	0	9973	1348	47	5	19507	5	MUC16	19	9063102	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08	5462758	9063102	50065881	91	113092											
GRIK5	2901	broad.mit.edu	37	chr19	42510819	42510819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaaggtcatggtggagCcggcgtggatggtgccatac	18	7	1	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr19:42510819C>T	uc002osj.1	-	15	2050	c.2015G>A	c.(2014-2016)GGC>GAC	p.G672D	GRIK5_uc002osi.1_Missense_Mutation_p.G244D	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	672	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CATGGTGGAGCCGGCGTGGAT	0.632													T	42510819	C	T	42510819	3	4	214	1	0	0	0	0	1	0	0	0	6777	739	26	2	947	2	GRIK5	19	42510819	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	33447717	42510819	16618164	92	113093											
NCOA6	23054	broad.mit.edu	37	chr20	33324511	33324511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggtctggcaacagagGcctgcagtgctgtggttgaa	14	9	1	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr20:33324511G>A	uc002xav.2	-	13	8516	c.5945C>T	c.(5944-5946)GCC>GTC	p.A1982V	NCOA6_uc002xaw.2_Missense_Mutation_p.A1982V	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1982	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			ovary(3)|breast(3)|central_nervous_system(1)	7						GGCAACAGAGGCCTGCAGTGC	0.443													A	33324511	G	A	33324511	3	1	214	1	0	0	0	0	1	0	0	0	10233	1203	42	2	262	2	NCOA6	20	33324511	Missense_Mutation	SNP	G	TCGA-D7-6817-01A-11D-1882-08		33324511	29701009	93	113094											
APCDD1L	164284	broad.mit.edu	37	chr20	57036311	57036311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacaccagctcggtgccGccgcggaccctggtggatgg	14	14	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr20:57036311G>A	uc002xze.1	-	4	1227	c.1041C>T	c.(1039-1041)GGC>GGT	p.G347G	APCDD1L_uc010zzp.1_Silent_p.G358G	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	347						integral to membrane				ovary(1)	1	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)			GCTCGGTGCCGCCGCGGACCC	0.657													A	57036311	G	A	57036311	2	1	214	1	0	0	0	0	0	0	0	1	766	1074	38	1		1	APCDD1L	20	57036311	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	23711800	57036311	5989209	94	113095											
KCNQ2	3785	broad.mit.edu	37	chr20	62076114	62076114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcgcaggctccggagCgcagatgtggcaaagacgtt	16	9	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr20:62076114C>T	uc002yey.1	-	4	765	c.588G>A	c.(586-588)GCG>GCA	p.A196A	KCNQ2_uc002yez.1_Silent_p.A196A|KCNQ2_uc002yfa.1_Silent_p.A196A|KCNQ2_uc002yfb.1_Silent_p.A196A|KCNQ2_uc011aax.1_Silent_p.A196A|KCNQ2_uc002yfc.1_Silent_p.A196A	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	196	Helical; Voltage-sensor; Name=Segment S4; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGCTCCGGAGCGCAGATGTGG	0.642													T	62076114	C	T	62076114	2	4	214	1	0	0	0	0	0	0	0	1	8083	755	27	1		1	KCNQ2	20	62076114	Silent	SNP	C	TCGA-D7-6817-01A-11D-1882-08	5039803	62076114	949406	95	113096											
RTEL1	51750	broad.mit.edu	37	chr20	62326251	62326251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcctataagcaagaCgacgacctcgacaaggtgct	10	12	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr20:62326251C>T	uc002yfu.1	+	32	3610	c.3267C>T	c.(3265-3267)GAC>GAT	p.D1089D	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.D1089D|RTEL1_uc011abd.1_Silent_p.D1113D|RTEL1_uc011abe.1_Silent_p.D866D|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.D334D|TNFRSF6B_uc002yfy.2_5'Flank|TNFRSF6B_uc002yfz.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1089					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				0	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)			ATAAGCAAGACGACGACCTCG	0.662													T	62326251	C	T	62326251	2	4	214	1	0	0	0	0	0	0	0	1	13720	535	19	1		1	RTEL1	20	62326251	Silent	SNP	C	TCGA-D7-6817-01A-11D-1882-08	250137	62326251	699269	96	113097											
HSF2BP	11077	broad.mit.edu	37	chr21	44949700	44949700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggtttgcaggcggggGttgcggctcttggacattgc	18	9	1	0			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chr21:44949700G>A	uc002zdi.2	-	9	1271	c.939C>T	c.(937-939)AAC>AAT	p.N313N	HSF2BP_uc011aey.1_Silent_p.N238N	NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	313					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.18)		GCAGGCGGGGGTTGCGGCTCT	0.587													A	44949700	G	A	44949700	2	1	214	1	0	0	0	0	0	0	0	1	7397	1252	44	4		4	HSF2BP	21	44949700	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08		44949700	3180195	97	113098											
SHOX	6473	broad.mit.edu	37	chrX	591691	591691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaagcaaggacggtaAcggcggaggcggaggcggcg	19	9	0	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chrX:591691A>G	uc004cph.1	+	2	750	c.59A>G	c.(58-60)AAC>AGC	p.N20S	SHOX_uc004cpi.2_Missense_Mutation_p.N20S	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	20	Poly-Gly.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)				AAGGACGGTAACGGCGGAGGC	0.627													G	591691	A	G	591691	3	3	214	1	0	0	0	0	1	0	0	0	14288	43	2	3	61	3	SHOX	23	591691	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08		591691	154678869	98	113099											
MAGEB1	4112	broad.mit.edu	37	chrX	30269232	30269232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcctctcctgggtgtgAtcttcttaaagggcaactct	10	10	4	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chrX:30269232A>G	uc004dcc.2	+	4	942	c.622A>G	c.(622-624)ATC>GTC	p.I208V	MAGEB1_uc004dcd.2_Missense_Mutation_p.I208V|MAGEB1_uc004dce.2_Missense_Mutation_p.I208V	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	208	MAGE.										0						CCTGGGTGTGATCTTCTTAAA	0.488													G	30269232	A	G	30269232	3	3	214	1	0	0	0	0	1	0	0	0	9172	333	12	3	624	3	MAGEB1	23	30269232	Missense_Mutation	SNP	A	TCGA-D7-6817-01A-11D-1882-08	29677541	30269232	125001328	99	113100											
CYLC1	1538	broad.mit.edu	37	chrX	83128313	83128313	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattgttcacaaaaagaTaagaaagattcaaagaattc	5	4	2	4			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chrX:83128313T>A	uc004eei.1	+	4	618	c.597T>A	c.(595-597)GAT>GAA	p.D199E	CYLC1_uc004eeh.1_Missense_Mutation_p.D198E	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	199					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CACAAAAAGATAAGAAAGATT	0.318													A	83128313	T	A	83128313	3	1	214	1	0	0	0	0	1	0	0	0	4141	1403	49	5	611	5	CYLC1	23	83128313	Missense_Mutation	SNP	T	TCGA-D7-6817-01A-11D-1882-08	52859081	83128313	72142247	100	113101											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299536	125299536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtggcctgactgcacGtccaccacaaacagcgtatt	10	12	0	2			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chrX:125299536G>A	uc004euk.1	-	1	399	c.372C>T	c.(370-372)GAC>GAT	p.D124D		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	124										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTGACTGCACGTCCACCACAA	0.642													A	125299536	G	A	125299536	2	1	214	1	0	0	0	0	0	0	0	1	4265	1136	40	1		1	DCAF12L2	23	125299536	Silent	SNP	G	TCGA-D7-6817-01A-11D-1882-08	42171223	125299536	29971024	101	113102											
CDR1	1038	broad.mit.edu	37	chrX	139865927	139865927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatccaggtcttccagCcaatatatgtcttcctgaag	6	10	2	1			TCGA-D7-6817-01A-11D-1882-08	TCGA-D7-6817-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b618ff45-c20e-47a8-a770-07be77c6f205	72dc01b0-d290-4a43-9b9e-9a14db9c36df	g.chrX:139865927C>T	uc004fbg.1	-	1	797	c.605G>A	c.(604-606)GGC>GAC	p.G202D	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	202	5.|5 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTCTTCCAGCCAATATATGT	0.448													T	139865927	C	T	139865927	3	4	214	1	0	0	0	0	1	0	0	0	3171	739	26	2	187	2	CDR1	23	139865927	Missense_Mutation	SNP	C	TCGA-D7-6817-01A-11D-1882-08	14566391	139865927	15404633	102	113103											
AJAP1	55966	broad.mit.edu	37	chr1	4772679	4772679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggatcccaggtggggTtagcacaacggagccttcca	14	10	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:4772679T>G	uc001alm.1	+	2	1130	c.749T>G	c.(748-750)GTT>GGT	p.V250G	AJAP1_uc001aln.2_Missense_Mutation_p.V250G	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	250	Extracellular (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	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)		CCAGGTGGGGTTAGCACAACG	0.498													G	4772679	T	G	4772679	3	3	215	1	0	0	0	0	1	0	0	0	438	1725	60	5	755	5	AJAP1	1	4772679	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08		4772679	244477942	1	113104											
HTR1D	3352	broad.mit.edu	37	chr1	23520606	23520606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaagggagatcttgagcGcctggagggtcctgggatcc	17	10	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:23520606G>A	uc001bgn.2	-	1	617	c.107C>T	c.(106-108)GCG>GTG	p.A36V		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	36	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		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)	GATCTTGAGCGCCTGGAGGGT	0.572													A	23520606	G	A	23520606	3	1	215	1	0	0	0	0	1	0	0	0	7438	1087	38	1	1030	1	HTR1D	1	23520606	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	18747927	23520606	225730015	2	113105											
MYOM3	127294	broad.mit.edu	37	chr1	24387551	24387551	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaatatcggccgacttactCttctcgatgatggccaaggt	10	10	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:24387551C>A	uc001bin.3	-	35	4156	c.3993G>T	c.(3991-3993)AAG>AAT	p.K1331N	MYOM3_uc001bil.3_Missense_Mutation_p.K224N|MYOM3_uc001bim.3_Missense_Mutation_p.K988N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1331										skin(2)|ovary(1)	3		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)		CCGACTTACTCTTCTCGATGA	0.493													A	24387551	C	A	24387551	3	1	215	1	0	0	0	0	1	0	0	0	10093	927	32	5	332	5	MYOM3	1	24387551	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	866945	24387551	224863070	3	113106											
CSMD2	114784	broad.mit.edu	37	chr1	34112430	34112430	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatagccaggctccaggTtaaagctggggaacaaaaac	11	9	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:34112430T>G	uc001bxn.1	-	29	4501	c.4472A>C	c.(4471-4473)AAC>ACC	p.N1491T	CSMD2_uc001bxm.1_Missense_Mutation_p.N1531T|CSMD2_uc001bxo.1_Missense_Mutation_p.N404T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1491	CUB 9.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCTCCAGGTTAAAGCTGGG	0.552													G	34112430	T	G	34112430	3	3	215	1	0	0	0	0	1	0	0	0	3945	1725	60	5	6155	5	CSMD2	1	34112430	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	9724879	34112430	215138191	4	113107											
WDR78	79819	broad.mit.edu	37	chr1	67292601	67292601	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgtcgtaaacaacagaAgtagctggataaaaactcaa	8	8	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:67292601A>T	uc001dcx.2	-	15	2297	c.2241T>A	c.(2239-2241)ACT>ACA	p.T747T	WDR78_uc009waw.2_Silent_p.T460T|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	747	WD 5.									ovary(2)	2						AAACAACAGAAGTAGCTGGAT	0.403													T	67292601	A	T	67292601	2	4	215	1	0	0	0	0	0	0	0	1	17325	59	3	5		5	WDR78	1	67292601	Silent	SNP	A	TCGA-D7-6818-01A-11D-1882-08	33180171	67292601	181958020	5	113108											
IFI44L	10964	broad.mit.edu	37	chr1	79095598	79095598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcaccagcataaccgagCgggtaagttatttccctgag	9	10	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:79095598C>T	uc010oro.1	+	4	900	c.721C>T	c.(721-723)CGG>TGG	p.R241W	IFI44L_uc010orp.1_5'UTR|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	241						cytoplasm					0						CATAACCGAGCGGGTAAGTTA	0.373													T	79095598	C	T	79095598	3	4	215	1	0	0	0	0	1	0	0	0	7518	759	27	1	731	1	IFI44L	1	79095598	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	11802997	79095598	170155023	6	113109											
FLG2	388698	broad.mit.edu	37	chr1	152328611	152328611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatagccagatgattgacTtgagccagaaccatgttggc	11	10	0	5			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:152328611T>G	uc001ezw.3	-	3	1724	c.1651A>C	c.(1651-1653)AGT>CGT	p.S551R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	551	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGATTGACTTGAGCCAGAA	0.488													G	152328611	T	G	152328611	3	3	215	1	0	0	0	0	1	0	0	0	5923	1609	56	5	5528	5	FLG2	1	152328611	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	73233013	152328611	96922010	7	113110											
C1orf43	25912	broad.mit.edu	37	chr1	154180004	154180004	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagtgcttggcacgtttactCttctgactggaggggaggta	14	7	2	1	rs11555361		TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:154180004C>G	uc001fei.2	-	7	1077	c.687G>C	c.(685-687)AAG>AAC	p.K229N	C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.K126N|C1orf43_uc001feg.2_Missense_Mutation_p.K195N|C1orf43_uc001feh.2_Missense_Mutation_p.K177N|C1orf43_uc001fej.2_Missense_Mutation_p.K211N|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3	229						integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CACGTTTACTCTTCTGACTGG	0.502													G	154180004	C	G	154180004	3	3	215	1	0	0	0	0	1	0	0	0	2040	912	32	5	78	5	C1orf43	1	154180004	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	1851393	154180004	95070617	8	113111											
OR10K2	391107	broad.mit.edu	37	chr1	158390476	158390476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaggatggcaaggaagaAgtacatggggatatgaaggg	18	2	0	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:158390476A>C	uc010pii.1	-	1	181	c.181T>G	c.(181-183)TTC>GTC	p.F61V		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GCAAGGAAGAAGTACATGGGG	0.473													C	158390476	A	C	158390476	3	2	215	1	0	0	0	0	1	0	0	0	10914	72	3	5	759	5	OR10K2	1	158390476	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	4210472	158390476	90860145	9	113112											
MNDA	4332	broad.mit.edu	37	chr1	158819011	158819011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaaacaaggaaggacCaatgaatgttaattgaaata	8	4	0	3	rs147701010	byFrequency	TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:158819011C>T	uc001fsz.1	+	7	1408	c.1208C>T	c.(1207-1209)CCA>CTA	p.P403L		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	403					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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AAGGAAGGACCAATGAATGTT	0.313													T	158819011	C	T	158819011	3	4	215	1	0	0	0	0	1	0	0	0	9676	594	21	4	1230	4	MNDA	1	158819011	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	428535	158819011	90431610	10	113113											
ATP1A4	480	broad.mit.edu	37	chr1	160147396	160147396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatctgctgggcatccGcctccactgggaagataaat	11	10	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:160147396G>A	uc001fve.3	+	18	3157	c.2678G>A	c.(2677-2679)CGC>CAC	p.R893H	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.R396H|ATP1A4_uc001fvh.2_Missense_Mutation_p.R29H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	893	Extracellular (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGGCATCCGCCTCCACTGG	0.498													A	160147396	G	A	160147396	3	1	215	1	0	0	0	0	1	0	0	0	1131	1087	38	1	2748	1	ATP1A4	1	160147396	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	1328385	160147396	89103225	11	113114											
CD84	8832	broad.mit.edu	37	chr1	160518103	160518103	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtcctgtgtgctggcTttccccatctgtgcaggaga	11	11	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:160518103T>G	uc001fwh.3	-	8	1005	c.981A>C	c.(979-981)AAA>AAC	p.K327N	CD84_uc001fwf.3_Missense_Mutation_p.K310N|CD84_uc001fwg.3_Missense_Mutation_p.K321N|CD84_uc009wtn.2_3'UTR|CD84_uc001fwi.3_Missense_Mutation_p.K196N	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	327	Cytoplasmic (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTGTGCTGGCTTTCCCCATCT	0.498													G	160518103	T	G	160518103	3	3	215	1	0	0	0	0	1	0	0	0	3042	1606	56	5	60	5	CD84	1	160518103	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	370707	160518103	88732518	12	113115											
QSOX1	5768	broad.mit.edu	37	chr1	180155295	180155295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggtggccctgaaaaAgtttgtggcagtgctggcca	15	10	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:180155295A>G	uc001gnz.2	+	8	1070	c.995A>G	c.(994-996)AAG>AGG	p.K332R	QSOX1_uc001gny.2_Missense_Mutation_p.K332R|QSOX1_uc001goa.2_Missense_Mutation_p.K332R	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	332					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GCCCTGAAAAAGTTTGTGGCA	0.582													G	180155295	A	G	180155295	3	3	215	1	0	0	0	0	1	0	0	0	12883	72	3	3	1025	3	QSOX1	1	180155295	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	19637192	180155295	69095326	13	113116											
USH2A	7399	broad.mit.edu	37	chr1	215914804	215914804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaccccagtgccttaAgaacaggagaattaagatcc	9	10	0	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:215914804A>G	uc001hku.1	-	60	12011	c.11624T>C	c.(11623-11625)CTT>CCT	p.L3875P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3875	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTGCCTTAAGAACAGGAGA	0.398										HNSCC(13;0.011)			G	215914804	A	G	215914804	3	3	215	1	0	0	0	0	1	0	0	0	17033	72	3	3	4036	3	USH2A	1	215914804	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	35759509	215914804	33335817	14	113117											
USH2A	7399	broad.mit.edu	37	chr1	216373317	216373317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaataggaatgatataacTtaaagtcaagtttccctctg	7	8	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:216373317T>G	uc001hku.1	-	17	3850	c.3463A>C	c.(3463-3465)AGT>CGT	p.S1155R	USH2A_uc001hkv.2_Missense_Mutation_p.S1155R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1155	Extracellular (Potential).|Fibronectin type-III 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			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATATAACTTAAAGTCAAG	0.428										HNSCC(13;0.011)			G	216373317	T	G	216373317	3	3	215	1	0	0	0	0	1	0	0	0	17033	1609	56	5	12383	5	USH2A	1	216373317	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	458513	216373317	32877304	15	113118											
ITPKB	3707	broad.mit.edu	37	chr1	226923713	226923713	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcagatctttcgcagcgtCccaacagggcaaaggctcca	9	13	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:226923713C>A	uc010pvo.1	-	2	1787	c.1447G>T	c.(1447-1449)GAC>TAC	p.D483Y	ITPKB_uc001hqh.2_Missense_Mutation_p.D483Y	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	483							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				TTCGCAGCGTCCCAACAGGGC	0.627													A	226923713	C	A	226923713	3	1	215	1	0	0	0	0	1	0	0	0	7918	855	30	5	1421	5	ITPKB	1	226923713	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	10550396	226923713	22326908	16	113119											
OR2L2	26246	broad.mit.edu	37	chr1	248201728	248201728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctttttggacatccaTctccacacacctatgtattt	3	13	3	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:248201728T>C	uc001idw.2	+	1	255	c.159T>C	c.(157-159)CAT>CAC	p.H53H	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			TGGACATCCATCTCCACACAC	0.343													C	248201728	T	C	248201728	2	2	215	1	0	0	0	0	0	0	0	1	11007	1432	50	3		3	OR2L2	1	248201728	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	21278015	248201728	1048893	17	113120											
OR2M3	127062	broad.mit.edu	37	chr1	248366812	248366812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacttatgactgccttttCctggatcctgggctctacgg	11	11	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr1:248366812C>T	uc010pzg.1	+	1	443	c.443C>T	c.(442-444)TCC>TTC	p.S148F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			ACTGCCTTTTCCTGGATCCTG	0.458													T	248366812	C	T	248366812	3	4	215	1	0	0	0	0	1	0	0	0	11011	855	30	4	445	4	OR2M3	1	248366812	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	165084	248366812	883809	18	113121											
SUPT7L	9913	broad.mit.edu	37	chr2	27878399	27878399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctccttgatcttcacaGgtttagcgtcctctgtggcc	9	13	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:27878399G>A	uc002rlh.1	-	5	1158	c.815C>T	c.(814-816)CCT>CTT	p.P272L	SUPT7L_uc002rli.1_Missense_Mutation_p.P272L|SUPT7L_uc010ymf.1_Missense_Mutation_p.P137L|SUPT7L_uc002rlj.1_Missense_Mutation_p.P270L|SUPT7L_uc010ezh.1_Missense_Mutation_p.P270L	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	272					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GATCTTCACAGGTTTAGCGTC	0.478													A	27878399	G	A	27878399	3	1	215	1	0	0	0	0	1	0	0	0	15398	1000	35	4	437	4	SUPT7L	2	27878399	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08		27878399	215320974	19	113122											
TACR1	6869	broad.mit.edu	37	chr2	75276845	75276845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatgcttgaagcccagaCggaacctggagagcgagcag	15	10	0	3	rs148591370		TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:75276845C>T	uc002sng.2	-	5	1523	c.938G>A	c.(937-939)CGT>CAT	p.R313H		NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	313	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GAAGCCCAGACGGAACCTGGA	0.597													T	75276845	C	T	75276845	3	4	215	1	0	0	0	0	1	0	0	0	15502	536	19	1	289	1	TACR1	2	75276845	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	47398446	75276845	167922528	20	113123											
LONRF2	164832	broad.mit.edu	37	chr2	100906748	100906748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagatattcaatgtccGctgtgttatagccatctctg	7	10	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:100906748G>A	uc002tal.3	-	10	2532	c.1892C>T	c.(1891-1893)GCG>GTG	p.A631V	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	631	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						TTCAATGTCCGCTGTGTTATA	0.463													A	100906748	G	A	100906748	3	1	215	1	0	0	0	0	1	0	0	0	8895	1087	38	1	384	1	LONRF2	2	100906748	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	25629903	100906748	142292625	21	113124											
CACNB4	785	broad.mit.edu	37	chr2	152727081	152727081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggccccactaacaccacCggacgcattgacggtacaac	9	16	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:152727081C>T	uc002tya.2	-	8	731	c.663G>A	c.(661-663)CCG>CCA	p.P221P	CACNB4_uc002txy.2_Silent_p.P187P|CACNB4_uc002txz.2_Silent_p.P203P|CACNB4_uc010fnz.2_Silent_p.P221P|CACNB4_uc002tyb.2_Silent_p.P187P	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	221					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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTAACACCACCGGACGCATTG	0.498													T	152727081	C	T	152727081	2	4	215	1	0	0	0	0	0	0	0	1	2555	639	23	1		1	CACNB4	2	152727081	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	51820333	152727081	90472292	22	113125											
CSRNP3	80034	broad.mit.edu	37	chr2	166536175	166536175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcacatttcagagcatcCtgctgaaaattctttgagcc	7	11	3	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:166536175C>T	uc002udf.2	+	7	2046	c.1670C>T	c.(1669-1671)CCT>CTT	p.P557L	CSRNP3_uc002udg.2_Missense_Mutation_p.P557L	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	557					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						TCAGAGCATCCTGCTGAAAAT	0.433													T	166536175	C	T	166536175	3	4	215	1	0	0	0	0	1	0	0	0	3965	681	24	4	1684	4	CSRNP3	2	166536175	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	13809094	166536175	76663198	23	113126											
SCN7A	6332	broad.mit.edu	37	chr2	167334146	167334146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaatatgctgttttaTaagttcaaaagactctttag	6	5	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:167334146T>G	uc002udu.1	-	2	188	c.61A>C	c.(61-63)ATA>CTA	p.I21L	SCN7A_uc002udv.1_Missense_Mutation_p.I21L	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	21					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TGCTGTTTTATAAGTTCAAAA	0.348													G	167334146	T	G	167334146	3	3	215	1	0	0	0	0	1	0	0	0	13923	1406	49	5	5083	5	SCN7A	2	167334146	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	797971	167334146	75865227	24	113127											
LRP2	4036	broad.mit.edu	37	chr2	170034354	170034354	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacacatggatgtcaaatGgtctgtgtgttgtgttcacc	12	7	3	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:170034354G>T	uc002ues.2	-	53	10565	c.10352C>A	c.(10351-10353)CCA>CAA	p.P3451Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3451	LDL-receptor class B 34.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	GATGTCAAATGGTCTGTGTGT	0.428													T	170034354	G	T	170034354	3	4	215	1	0	0	0	0	1	0	0	0	8956	1348	47	5	3723	5	LRP2	2	170034354	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	2700208	170034354	73165019	25	113128											
TTN	7273	broad.mit.edu	37	chr2	179583903	179583903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgaccttgcacagtcaGgactgctgagcactcatcgg	10	13	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:179583903G>A	uc010zfg.1	-	80	20706	c.20482C>T	c.(20482-20484)CTG>TTG	p.L6828L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L3489L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7755							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACAGTCAGGACTGCTGAG	0.507													A	179583903	G	A	179583903	2	1	215	1	0	0	0	0	0	0	0	1	16732	991	35	4		4	TTN	2	179583903	Silent	SNP	G	TCGA-D7-6818-01A-11D-1882-08	9549549	179583903	63615470	26	113129											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693166	187693166	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattttataatcataggttaAtttttttgaatttgaattat	4	1	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr2:187693166A>C	uc002upu.1	-	9	1487	c.1447T>G	c.(1447-1449)TTA>GTA	p.L483V		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	483					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCATAGGTTAATTTTTTTGAA	0.318													C	187693166	A	C	187693166	3	2	215	1	0	0	0	0	1	0	0	0	18238	98	4	5	458	5	ZSWIM2	2	187693166	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	8109263	187693166	55506207	27	113130											
SATB1	6304	broad.mit.edu	37	chr3	18457585	18457585	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggcatctgtcacgtaAgacagtggaactggattcca	12	9	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:18457585A>C	uc003cbh.2	-	4	2164	c.429T>G	c.(427-429)TCT>TCG	p.S143S	SATB1_uc003cbi.2_Silent_p.S143S|SATB1_uc003cbj.2_Silent_p.S143S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	143	Protein interaction.|PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CTGTCACGTAAGACAGTGGAA	0.388													C	18457585	A	C	18457585	2	2	215	1	0	0	0	0	0	0	0	1	13853	59	3	5		5	SATB1	3	18457585	Silent	SNP	A	TCGA-D7-6818-01A-11D-1882-08		18457585	179564845	28	113131											
GOLGA4	2803	broad.mit.edu	37	chr3	37365107	37365108	+	Frame_Shift_Ins	INS	-	-	A													gaattggaaagttctttggaINSaaaaagcttacaagaaaaca					rs34740077		TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:37365106_37365107G>GA	uc003cgv.3	+	13	2089_2090	c.1729_1730G>GA	c.(1729-1731)gaafs	p.E577fs	GOLGA4_uc010hgr.2_Frame_Shift_Ins_p.E138fs|GOLGA4_uc003cgw.3_Frame_Shift_Ins_p.E599fs|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Frame_Shift_Ins_p.E458fs	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	577	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						AAGTTCTTTGGAAAAAAGCTTA	0.307													A	37365108	-	A	37365107	7	5	215	1	0	1	1	0	0	0	0	0	6555	246	9	0	1854	0	GOLGA4	3	37365107	Frame_Shift_Ins	INS	-	TCGA-D7-6818-01A-11D-1882-08	18907522	37365107	160657323	29	113132											
DNAH1	25981	broad.mit.edu	37	chr3	52428625	52428625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttctcttccgacttcGtgaagcacctctcagaattc	5	16	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:52428625G>A	uc011bef.1	+	67	11032	c.10771G>A	c.(10771-10773)GTG>ATG	p.V3591M	DNAH1_uc003ddv.2_Missense_Mutation_p.V449M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3656					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			large_intestine(3)	3				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)		TTCCGACTTCGTGAAGCACCT	0.582													A	52428625	G	A	52428625	3	1	215	1	0	0	0	0	1	0	0	0	4597	1145	40	1	11033	1	DNAH1	3	52428625	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	15063518	52428625	145593805	30	113133											
ADAMTS9	56999	broad.mit.edu	37	chr3	64635379	64635379	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttattcacgttgtaaagGatgcctggcagttggacagg	13	6	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:64635379G>A	uc003dmg.2	-	10	1571	c.1539C>T	c.(1537-1539)ATC>ATT	p.I513I	ADAMTS9_uc011bfo.1_Silent_p.I485I|ADAMTS9_uc003dmh.1_Silent_p.I342I|ADAMTS9_uc003dmk.1_Silent_p.I513I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	513	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		CGTTGTAAAGGATGCCTGGCA	0.468													A	64635379	G	A	64635379	2	1	215	1	0	0	0	0	0	0	0	1	273	1164	41	4		4	ADAMTS9	3	64635379	Silent	SNP	G	TCGA-D7-6818-01A-11D-1882-08	12206754	64635379	133387051	31	113134											
ZBTB20	26137	broad.mit.edu	37	chr3	114069713	114069713	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgggttgggtgggttcAgcctggctgtcccgcgccgc	17	13	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:114069713A>C	uc003ebi.2	-	4	1392	c.1212T>G	c.(1210-1212)GCT>GCG	p.A404A	ZBTB20_uc003ebj.2_Silent_p.A331A|ZBTB20_uc010hqp.2_Silent_p.A331A|ZBTB20_uc003ebk.2_Silent_p.A331A|ZBTB20_uc003ebl.2_Silent_p.A331A|ZBTB20_uc003ebm.2_Silent_p.A331A|ZBTB20_uc003ebn.2_Silent_p.A331A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGGTGGGTTCAGCCTGGCTGT	0.637													C	114069713	A	C	114069713	2	2	215	1	0	0	0	0	0	0	0	1	17526	175	7	5		5	ZBTB20	3	114069713	Silent	SNP	A	TCGA-D7-6818-01A-11D-1882-08	49434334	114069713	83952717	32	113135											
KY	339855	broad.mit.edu	37	chr3	134322598	134322598	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaggactttggcaatAccatgcagcttcaatttgaa	7	10	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:134322598A>G	uc010hty.2	-	11	1871	c.1809T>C	c.(1807-1809)GGT>GGC	p.G603G	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.G582G	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	Error:Variant_position_missing_in_Q8NBH2_after_alignment						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						CTTTGGCAATACCATGCAGCT	0.572													G	134322598	A	G	134322598	2	3	215	1	0	0	0	0	0	0	0	1	8586	378	14	3		3	KY	3	134322598	Silent	SNP	A	TCGA-D7-6818-01A-11D-1882-08	20252885	134322598	63699832	33	113136											
ZIC1	7545	broad.mit.edu	37	chr3	147128310	147128310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacggccacacggacgcCgcgggccacctcctcttccc	9	22	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:147128310C>T	uc003ewe.2	+	1	1130	c.411C>T	c.(409-411)GCC>GCT	p.A137A		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	137					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			ovary(1)|central_nervous_system(1)	2						ACACGGACGCCGCGGGCCACC	0.721													T	147128310	C	T	147128310	2	4	215	1	0	0	0	0	0	0	0	1	17675	639	23	1		1	ZIC1	3	147128310	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	12805712	147128310	50894120	34	113137											
FNDC3B	64778	broad.mit.edu	37	chr3	171965423	171965423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccatgtctccaacccatcAtctccctccctatctgactc	3	19	4	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:171965423A>G	uc003fhy.2	+	5	537	c.365A>G	c.(364-366)CAT>CGT	p.H122R	FNDC3B_uc003fhz.3_Missense_Mutation_p.H122R|FNDC3B_uc003fia.2_Missense_Mutation_p.H53R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	122						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	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)		CCAACCCATCATCTCCCTCCC	0.527													G	171965423	A	G	171965423	3	3	215	1	0	0	0	0	1	0	0	0	5970	217	8	3	379	3	FNDC3B	3	171965423	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	24837113	171965423	26057007	35	113138											
KCNMB2	10242	broad.mit.edu	37	chr3	178560470	178560470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctaaatgtggaaaaaaTtttgaagaatccatgtccct	6	7	0	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:178560470T>G	uc003fjd.2	+	5	796	c.453T>G	c.(451-453)AAT>AAG	p.N151K	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151K|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151K|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	151	Extracellular (Potential).				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			ovary(1)	1	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)			GTGGAAAAAATTTTGAAGAAT	0.403													G	178560470	T	G	178560470	3	3	215	1	0	0	0	0	1	0	0	0	8075	1490	52	5	467	5	KCNMB2	3	178560470	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	6595047	178560470	19461960	36	113139											
C3orf59	151963	broad.mit.edu	37	chr3	192516834	192516834	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagcaagcaggcaccaAgtaaaacccactgatgacct	10	11	0	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:192516834A>C	uc011bsp.1	-	2	1138	c.817T>G	c.(817-819)TTG>GTG	p.L273V		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	273											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		GCAGGCACCAAGTAAAACCCA	0.522													C	192516834	A	C	192516834	3	2	215	1	0	0	0	0	1	0	0	0	2237	69	3	5	662	5	C3orf59	3	192516834	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	13956364	192516834	5505596	37	113140											
MUC4	4585	broad.mit.edu	37	chr3	195474111	195474111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggagcaaccccagaagCgcaggaccacgaacgtcccg	11	18	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr3:195474111C>T	uc011bto.1	-	26	16251	c.15791G>A	c.(15790-15792)CGC>CAC	p.R5264H	MUC4_uc010hzq.2_Missense_Mutation_p.R249H|MUC4_uc003fuz.2_Missense_Mutation_p.R990H|MUC4_uc003fva.2_Missense_Mutation_p.R872H|MUC4_uc003fvb.2_Missense_Mutation_p.R908H|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R908H|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R872H|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R956H|MUC4_uc011bti.1_Missense_Mutation_p.R956H|MUC4_uc011btj.1_Missense_Mutation_p.R1133H|MUC4_uc011btk.1_Missense_Mutation_p.R872H|MUC4_uc011btl.1_Missense_Mutation_p.R901H|MUC4_uc011btm.1_Missense_Mutation_p.R1081H|MUC4_uc011btn.1_Missense_Mutation_p.R872H|MUC4_uc003fvo.2_Missense_Mutation_p.R1156H|MUC4_uc003fvp.2_Missense_Mutation_p.R1105H	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2149					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		ACCCCAGAAGCGCAGGACCAC	0.612													T	195474111	C	T	195474111	3	4	215	1	0	0	0	0	1	0	0	0	9978	768	27	1	67	1	MUC4	3	195474111	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	2957277	195474111	2548319	38	113141											
SLIT2	9353	broad.mit.edu	37	chr4	20521042	20521042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacagaactccccaaaAgtttatttgaaggactgttt	6	8	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:20521042A>G	uc003gpr.1	+	12	1300	c.1096A>G	c.(1096-1098)AGT>GGT	p.S366G	SLIT2_uc003gps.1_Missense_Mutation_p.S366G	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	366	LRR 9.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						ACTCCCCAAAAGTTTATTTGA	0.299													G	20521042	A	G	20521042	3	3	215	1	0	0	0	0	1	0	0	0	14740	72	3	3	1142	3	SLIT2	4	20521042	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08		20521042	170633234	39	113142											
PPARGC1A	10891	broad.mit.edu	37	chr4	23833214	23833214	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcctggggtggagggGtgccgtcaggcatggaggaa	19	9	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:23833214G>C	uc003gqs.2	-	3	515	c.395C>G	c.(394-396)ACC>AGC	p.T132S	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	132					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			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GGGTGGAGGGGTGCCGTCAGG	0.557													C	23833214	G	C	23833214	3	2	215	1	0	0	0	0	1	0	0	0	12300	1261	44	5	2045	5	PPARGC1A	4	23833214	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	3312172	23833214	167321062	40	113143											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68780403	68780403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcttgcagacatcatcaCttatgattttcactctggct	7	10	4	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:68780403C>T	uc003hdr.1	-	9	1128	c.1007G>A	c.(1006-1008)AGT>AAT	p.S336N	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.S333N	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	336	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						GACATCATCACTTATGATTTT	0.398													T	68780403	C	T	68780403	3	4	215	1	0	0	0	0	1	0	0	0	16236	565	20	4	266	4	TMPRSS11A	4	68780403	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	44947189	68780403	122373873	41	113144											
UGT2B15	7366	broad.mit.edu	37	chr4	69535770	69535780	+	Frame_Shift_Del	DEL	CAGAAATCCTC	CAGAAATCCTC	-													ggtacataggaaggagggaaCagaaatcctccaccattctt							TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:69535769_69535779ACAGAAATCCTC>A	uc021xow.1	-	0	716_726	c.558_568GAGGATTTCTGT>T	c.(556-570)ggaggatttctgttcfs	p.G186fs		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	186					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GAAGGAGGGAACAGAAATCCTCCACCATTCT	0.374													-	69535780	CAGAAATCCTC	-	69535770	7	5	215	1	0	1	0	1	0	0	0	0	16955	465	17	0	2666	0	UGT2B15	4	69535770	Frame_Shift_Del	DEL	CAGAAATCCTC	TCGA-D7-6818-01A-11D-1882-08	755367	69535770	121618506	42	113145											
THAP6	152815	broad.mit.edu	37	chr4	76442037	76442037	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tattagcaatgaaaagacttGatgtgaatgcagccggcatt	10	6	0	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:76442037G>C	uc003him.2	+	3	233	c.136G>C	c.(136-138)GAT>CAT	p.D46H	RCHY1_uc003hij.2_5'Flank|RCHY1_uc003hik.2_5'Flank|RCHY1_uc003hil.2_5'Flank|RCHY1_uc010iip.2_5'Flank|RCHY1_uc010iiq.2_5'Flank|RCHY1_uc010iir.2_5'Flank|THAP6_uc010iis.1_Missense_Mutation_p.D5H|THAP6_uc003hin.2_Missense_Mutation_p.D46H|THAP6_uc011cbm.1_Missense_Mutation_p.D46H|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_RNA|THAP6_uc010iiv.2_Missense_Mutation_p.D46H	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	46	THAP-type.					microtubule cytoskeleton	DNA binding|metal ion binding				0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAAAAGACTTGATGTGAATGC	0.333													C	76442037	G	C	76442037	3	2	215	1	0	0	0	0	1	0	0	0	15845	1290	45	5	142	5	THAP6	4	76442037	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	6906267	76442037	114712239	43	113146											
THAP9	79725	broad.mit.edu	37	chr4	83822021	83822021	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcagccgggagcgcggCctctccttccaccagtgcgt	13	16	2	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:83822021C>A	uc003hnt.2	+	1	185	c.66C>A	c.(64-66)GGC>GGA	p.G22G	SEC31A_uc003hnm.2_5'Flank|uc003hnp.2_5'Flank|uc003hnq.2_5'Flank|uc003hnr.2_5'Flank|THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_RNA	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	22	THAP-type.						DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				GGGAGCGCGGCCTCTCCTTCC	0.493													A	83822021	C	A	83822021	2	1	215	1	0	0	0	0	0	0	0	1	15848	726	26	5		5	THAP9	4	83822021	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	7379984	83822021	107332255	44	113147											
UNC5C	8633	broad.mit.edu	37	chr4	96140365	96140365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatccagaattggagagTtggtcattgggattttgtct	14	4	2	2	rs147587723	byFrequency	TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:96140365T>C	uc003htp.1	-	9	1554	c.1400A>G	c.(1399-1401)AAC>AGC	p.N467S	UNC5C_uc010ilc.1_Missense_Mutation_p.N486S|UNC5C_uc003htq.2_Missense_Mutation_p.N486S	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	467	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATTGGAGAGTTGGTCATTGG	0.522													C	96140365	T	C	96140365	3	2	215	1	0	0	0	0	1	0	0	0	16990	1725	60	3	1427	3	UNC5C	4	96140365	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	12318344	96140365	95013911	45	113148											
FAT4	79633	broad.mit.edu	37	chr4	126336146	126336146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaagctttggatcgggaaAgtcagtccttctacaacttg	9	8	2	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr4:126336146A>G	uc003ifj.3	+	5	6028	c.6028A>G	c.(6028-6030)AGT>GGT	p.S2010G	FAT4_uc011cgp.1_Missense_Mutation_p.S308G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2010	Cadherin 19.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGATCGGGAAAGTCAGTCCTT	0.438													G	126336146	A	G	126336146	3	3	215	1	0	0	0	0	1	0	0	0	5692	72	3	3	6046	3	FAT4	4	126336146	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	30195781	126336146	64818130	46	113149											
ADCY2	108	broad.mit.edu	37	chr5	7698445	7698445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctctccctaaccatgccaAgaactgtgtgaaaatggggc	9	11	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:7698445A>C	uc003jdz.1	+	7	1134	c.1067A>C	c.(1066-1068)AAG>ACG	p.K356T	ADCY2_uc011cmo.1_Missense_Mutation_p.K176T	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	356	Cytoplasmic (Potential).				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			ovary(5)|pancreas(1)|skin(1)	7						AACCATGCCAAGAACTGTGTG	0.333													C	7698445	A	C	7698445	3	2	215	1	0	0	0	0	1	0	0	0	294	72	3	5	1093	5	ADCY2	5	7698445	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08		7698445	173216815	47	113150											
ADAMTS12	81792	broad.mit.edu	37	chr5	33588882	33588882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtggggcccgcatgtcGccgagcatgcttcccactcc	11	19	0	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:33588882G>A	uc003jia.1	-	18	2850	c.2687C>T	c.(2686-2688)GCG>GTG	p.A896V	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A811V	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	896	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CCCGCATGTCGCCGAGCATGC	0.592										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33588882	G	A	33588882	3	1	215	1	0	0	0	0	1	0	0	0	257	1087	38	1	2125	1	ADAMTS12	5	33588882	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	25890437	33588882	147326378	48	113151											
UGT3A1	133688	broad.mit.edu	37	chr5	35991293	35991293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcctctgagagcaggAccccagaaagaaggaaggcc	14	11	1	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:35991293A>G	uc003jjv.1	-	1	207	c.50T>C	c.(49-51)GTC>GCC	p.V17A	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.V17A|UGT3A1_uc011cor.1_Missense_Mutation_p.V17A|UGT3A1_uc003jjy.1_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	17						integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAGCAGGACCCCAGAAAG	0.617													G	35991293	A	G	35991293	3	3	215	1	0	0	0	0	1	0	0	0	16960	275	10	3	1631	3	UGT3A1	5	35991293	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	2402411	35991293	144923967	49	113152											
NUP155	9631	broad.mit.edu	37	chr5	37292998	37292998	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttcacaatttaaaacTtggctgggattctcaacata	5	9	2	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:37292998T>G	uc003jku.1	-	34	4138	c.4020A>C	c.(4018-4020)CAA>CAC	p.Q1340H	NUP155_uc003jkt.1_Missense_Mutation_p.Q1281H|NUP155_uc010iuz.1_Missense_Mutation_p.Q1276H	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1340					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			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTTAAAACTTGGCTGGGAT	0.313													G	37292998	T	G	37292998	3	3	215	1	0	0	0	0	1	0	0	0	10756	1606	56	5	163	5	NUP155	5	37292998	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	1301705	37292998	143622262	50	113153											
DAB2	1601	broad.mit.edu	37	chr5	39381699	39381699	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaagatgtctgatgcaAgcaagtcattggctgaagac	12	7	2	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:39381699A>C	uc003jlx.2	-	11	1892	c.1361T>G	c.(1360-1362)CTT>CGT	p.L454R	DAB2_uc003jlw.2_Missense_Mutation_p.L433R	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	454					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			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GTCTGATGCAAGCAAGTCATT	0.522													C	39381699	A	C	39381699	3	2	215	1	0	0	0	0	1	0	0	0	4218	72	3	5	967	5	DAB2	5	39381699	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	2088701	39381699	141533561	51	113154											
IPO11	51194	broad.mit.edu	37	chr5	61747732	61747732	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactggcatctaaacgacTtgctgctgatagaaaactat	8	9	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:61747732T>G	uc003jtc.2	+	5	678	c.488T>G	c.(487-489)CTT>CGT	p.L163R	IPO11_uc011cqr.1_Missense_Mutation_p.L203R|IPO11_uc003jtb.1_Missense_Mutation_p.L163R	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	163						cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTAAACGACTTGCTGCTGAT	0.308													G	61747732	T	G	61747732	3	3	215	1	0	0	0	0	1	0	0	0	7793	1609	56	5	626	5	IPO11	5	61747732	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	22366033	61747732	119167528	52	113155											
MCC	4163	broad.mit.edu	37	chr5	112478959	112478959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatcttcttgttgagctcCgcaatgacgctgtggagctc	10	11	3	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:112478959C>T	uc003kqj.3	-	3	800	c.270G>A	c.(268-270)GCG>GCA	p.A90A	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.A280A|MCC_uc011cwb.1_Silent_p.A90A|MCC_uc010jcd.1_Silent_p.A52A	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	90					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			ovary(1)	1		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)		TGTTGAGCTCCGCAATGACGC	0.552													T	112478959	C	T	112478959	2	4	215	1	0	0	0	0	0	0	0	1	9373	639	23	1		1	MCC	5	112478959	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	50731227	112478959	68436301	53	113156											
PCDHA6	56142	broad.mit.edu	37	chr5	140208881	140208881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagctggtgtccaccttcaAgaattactactcgttggtgc	9	11	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:140208881A>G	uc003lho.2	+	1	1232	c.1205A>G	c.(1204-1206)AAG>AGG	p.K402R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.K402R|PCDHA6_uc011dab.1_Missense_Mutation_p.K402R	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	402	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACCTTCAAGAATTACTAC	0.602													G	140208881	A	G	140208881	3	3	215	1	0	0	0	0	1	0	0	0	11528	72	3	3	1207	3	PCDHA6	5	140208881	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	27729922	140208881	40706379	54	113157											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040689	147040689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttcctgtaagagcttaAggcgctctgtgtcaaacagt	9	9	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:147040689A>G	uc003loq.1	-	3	831	c.449T>C	c.(448-450)CTT>CCT	p.L150P	JAKMIP2_uc011dbx.1_Missense_Mutation_p.L108P|JAKMIP2_uc003lor.1_Missense_Mutation_p.L150P|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L150P	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	150	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGAGCTTAAGGCGCTCTGT	0.552													G	147040689	A	G	147040689	3	3	215	1	0	0	0	0	1	0	0	0	7941	72	3	3	2059	3	JAKMIP2	5	147040689	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	6831808	147040689	33874571	55	113158											
SPINK5	11005	broad.mit.edu	37	chr5	147480060	147480060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgaggaacggaaaacTtgcttgcaccagagagaacg	13	8	0	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:147480060T>C	uc003lox.2	+	13	1209	c.1136T>C	c.(1135-1137)CTT>CCT	p.L379P	SPINK5_uc010jgs.1_Missense_Mutation_p.L351P|SPINK5_uc010jgr.2_Missense_Mutation_p.L360P|SPINK5_uc003low.2_Missense_Mutation_p.L379P|SPINK5_uc003loy.2_Missense_Mutation_p.L379P	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	379	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGAAAACTTGCTTGCACC	0.473													C	147480060	T	C	147480060	3	2	215	1	0	0	0	0	1	0	0	0	15061	1609	56	3	1186	3	SPINK5	5	147480060	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	439371	147480060	33435200	56	113159											
FOXI1	2299	broad.mit.edu	37	chr5	169535259	169535259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcaccagggggcaccAccagctccccagagaagcgg	13	16	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr5:169535259A>G	uc003mai.3	+	2	826	c.781A>G	c.(781-783)ACC>GCC	p.T261A	FOXI1_uc003maj.3_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	261					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(1)	4	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)			AGGGGGCACCACCAGCTCCCC	0.632									Pendred_syndrome				G	169535259	A	G	169535259	3	3	215	1	0	0	0	0	1	0	0	0	6009	159	6	3	787	3	FOXI1	5	169535259	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	22055199	169535259	11380001	57	113160											
CDYL	9425	broad.mit.edu	37	chr6	4892402	4892402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggacggctttcagagCgagagccctgagaaactgga	15	9	1	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:4892402C>T	uc003mwi.2	+	4	773	c.642C>T	c.(640-642)AGC>AGT	p.S214S	CDYL_uc003mwj.2_Silent_p.S160S|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Silent_p.S28S|CDYL_uc011dhy.1_Silent_p.S28S	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	214					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GCTTTCAGAGCGAGAGCCCTG	0.597													T	4892402	C	T	4892402	2	4	215	1	0	0	0	0	0	0	0	1	3185	767	27	1		1	CDYL	6	4892402	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08		4892402	166222665	58	113161											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156698	26156698	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagaagaaggcccgcaagtCtgcaggtgcggccaagcgca	15	11	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:26156698C>T	uc003ngq.2	+	1	140	c.80C>T	c.(79-81)TCT>TTT	p.S27F	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	27					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						GCCCGCAAGTCTGCAGGTGCG	0.652													T	26156698	C	T	26156698	3	4	215	1	0	0	0	0	1	0	0	0	7126	913	32	4	82	4	HIST1H1E	6	26156698	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	21264296	26156698	144958369	59	113162											
C6orf25	80739	broad.mit.edu	37	chr6	31691171	31691171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctaaccatggctgtgtTtctgcagctgctaccgctgc	9	14	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:31691171T>C	uc011doc.1	+	1	11	c.11T>C	c.(10-12)TTT>TCT	p.F4S	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.F4S|C6orf25_uc011dod.1_Missense_Mutation_p.F4S|C6orf25_uc011doe.1_Missense_Mutation_p.F4S|C6orf25_uc003nwo.2_Missense_Mutation_p.F4S|C6orf25_uc003nwn.2_Missense_Mutation_p.F4S	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	4						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						ATGGCTGTGTTTCTGCAGCTG	0.627													C	31691171	T	C	31691171	3	2	215	1	0	0	0	0	1	0	0	0	2360	1841	64	3	13	3	C6orf25	6	31691171	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	5534473	31691171	139423896	60	113163											
TINAG	27283	broad.mit.edu	37	chr6	54191625	54191625	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagaattacagccaaTtttggggaatgactttagaa	9	7	0	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:54191625T>A	uc003pcj.2	+	4	681	c.535T>A	c.(535-537)TTT>ATT	p.F179I	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	179					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTACAGCCAATTTTGGGGAAT	0.358													A	54191625	T	A	54191625	3	1	215	1	0	0	0	0	1	0	0	0	15918	1493	52	5	549	5	TINAG	6	54191625	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	22500454	54191625	116923442	61	113164											
HMGCLL1	54511	broad.mit.edu	37	chr6	55406891	55406891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatccatccctaggcccaacTtctactattttaacaaactc	2	14	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:55406891T>A	uc003pcn.2	-	3	405	c.246A>T	c.(244-246)GAA>GAT	p.E82D	HMGCLL1_uc003pco.2_Missense_Mutation_p.E52D|HMGCLL1_uc010jzx.2_Translation_Start_Site|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52D|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	82							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAGGCCCAACTTCTACTATTT	0.313													A	55406891	T	A	55406891	3	1	215	1	0	0	0	0	1	0	0	0	7230	1606	56	5	898	5	HMGCLL1	6	55406891	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	1215266	55406891	115708176	62	113165											
BAI3	577	broad.mit.edu	37	chr6	70042852	70042852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttggtatttaataaacTtgtttccagagatggaatcc	7	6	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:70042852T>C	uc003pev.3	+	24	3588	c.3140T>C	c.(3139-3141)CTT>CCT	p.L1047P	BAI3_uc010kak.2_Missense_Mutation_p.L1047P|BAI3_uc011dxx.1_Missense_Mutation_p.L253P|BAI3_uc003pex.1_Missense_Mutation_p.L177P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1047	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TTTAATAAACTTGTTTCCAGA	0.383													C	70042852	T	C	70042852	3	2	215	1	0	0	0	0	1	0	0	0	1300	1609	56	3	3226	3	BAI3	6	70042852	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	14635961	70042852	101072215	63	113166											
C6orf165	154313	broad.mit.edu	37	chr6	88173942	88173942	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgaggtcaaggtgaacTtaactagagatgtggatgaa	13	5	1	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:88173942T>G	uc003plv.2	+	13	1935	c.1843T>G	c.(1843-1845)TTA>GTA	p.L615V	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.L427V|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	615										central_nervous_system(1)	1		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)		CAAGGTGAACTTAACTAGAGA	0.418													G	88173942	T	G	88173942	3	3	215	1	0	0	0	0	1	0	0	0	2341	1606	56	5	1889	5	C6orf165	6	88173942	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	18131090	88173942	82941125	64	113167											
C6orf167	253714	broad.mit.edu	37	chr6	97626443	97626443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtcagtttgaccaacTgtttcatgtactctttttct	5	9	5	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:97626443T>A	uc003ppb.2	-	18	2821	c.2555A>T	c.(2554-2556)CAG>CTG	p.Q852L	C6orf167_uc011eaf.1_Missense_Mutation_p.Q812L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	852					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		TTTGACCAACTGTTTCATGTA	0.269													A	97626443	T	A	97626443	3	1	215	1	0	0	0	0	1	0	0	0	2342	1580	55	5	1208	5	C6orf167	6	97626443	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	9452501	97626443	73488624	65	113168											
MICAL1	64780	broad.mit.edu	37	chr6	109766483	109766483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaatctcatttagtcgcCgttggatggtctgaggggta	12	9	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:109766483C>T	uc003ptj.2	-	21	3052	c.2798G>A	c.(2797-2799)CGG>CAG	p.R933Q	MICAL1_uc003ptk.2_Missense_Mutation_p.R933Q|MICAL1_uc010kdr.2_Missense_Mutation_p.R847Q|MICAL1_uc011eaq.1_Missense_Mutation_p.R952Q	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	933	Potential.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATTTAGTCGCCGTTGGATGGT	0.542													T	109766483	C	T	109766483	3	4	215	1	0	0	0	0	1	0	0	0	9569	652	23	1	421	1	MICAL1	6	109766483	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	12140040	109766483	61348584	66	113169											
SLC35F1	222553	broad.mit.edu	37	chr6	118556704	118556704	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcaattttacgacgaAgatggtggaagtacatgatt	11	6	0	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:118556704A>C	uc003pxx.3	+	3	583	c.382A>C	c.(382-384)AGA>CGA	p.R128R		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	128					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		TTTACGACGAAGATGGTGGAA	0.393													C	118556704	A	C	118556704	2	2	215	1	0	0	0	0	0	0	0	1	14588	64	3	5		5	SLC35F1	6	118556704	Silent	SNP	A	TCGA-D7-6818-01A-11D-1882-08	8790221	118556704	52558363	67	113170											
BCLAF1	9774	broad.mit.edu	37	chr6	136599544	136599544	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcctgagaccctcGtcttttagaaacaggagatt	8	8	1	3	rs140155621	byFrequency	TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:136599544G>A	uc003qgx.1	-	4	728	c.475C>T	c.(475-477)CGA>TGA	p.R159*	BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R159*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R157*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R157*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	159					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAGACCCTCGTCTTTTAGAA	0.433													A	136599544	G	A	136599544	4	1	215	1	0	0	0	0	0	1	0	0	1383	1153	40	1	2327	1	BCLAF1	6	136599544	Nonsense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	18042840	136599544	34515523	68	113171											
UTRN	7402	broad.mit.edu	37	chr6	144844177	144844177	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaccaactggacaaacTtggagagcagattgcagtca	10	9	1	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:144844177T>G	uc003qkt.2	+	40	5851	c.5759T>G	c.(5758-5760)CTT>CGT	p.L1920R		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1920	Spectrin 13.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGGACAAACTTGGAGAGCAG	0.373													G	144844177	T	G	144844177	3	3	215	1	0	0	0	0	1	0	0	0	17100	1609	56	5	5917	5	UTRN	6	144844177	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	8244633	144844177	26270890	69	113172											
SYNE1	23345	broad.mit.edu	37	chr6	152809633	152809633	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttaaaaattactctgtcTtctctctggaaatgaggaga	7	8	4	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr6:152809633T>G	uc010kiw.2	-	12	1547	c.945A>C	c.(943-945)GAA>GAC	p.E315D	SYNE1_uc003qot.3_Missense_Mutation_p.E322D|SYNE1_uc003qou.3_Missense_Mutation_p.E315D|SYNE1_uc010kjb.1_Missense_Mutation_p.E298D|SYNE1_uc003qpa.1_Missense_Mutation_p.E315D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	315	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTACTCTGTCTTCTCTCTGGA	0.299										HNSCC(10;0.0054)			G	152809633	T	G	152809633	3	3	215	1	0	0	0	0	1	0	0	0	15442	1606	56	5	26061	5	SYNE1	6	152809633	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	7965456	152809633	18305434	70	113173											
THSD7A	221981	broad.mit.edu	37	chr7	11676525	11676525	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctccacatgagcacacCacacagccctcgtttggatg	7	16	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr7:11676525C>T	uc003ssf.3	-	2	506	c.254G>A	c.(253-255)TGG>TAG	p.W85*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	85	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGAGCACACCACACAGCCCT	0.478										HNSCC(18;0.044)			T	11676525	C	T	11676525	4	4	215	1	0	0	0	0	0	1	0	0	15876	595	21	4	4823	4	THSD7A	7	11676525	Nonsense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08		11676525	147462138	71	113174											
CCDC129	223075	broad.mit.edu	37	chr7	31682809	31682809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatcatactcaagacaagTtccttcatgttgactctgag	7	9	4	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr7:31682809T>G	uc003tcj.1	+	11	2818	c.1825T>G	c.(1825-1827)TTC>GTC	p.F609V	CCDC129_uc011kad.1_Missense_Mutation_p.F619V|CCDC129_uc003tci.1_Missense_Mutation_p.F460V|CCDC129_uc011kae.1_Missense_Mutation_p.F635V|CCDC129_uc003tck.1_Missense_Mutation_p.F517V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	609											0						TCAAGACAAGTTCCTTCATGT	0.493													G	31682809	T	G	31682809	3	3	215	1	0	0	0	0	1	0	0	0	2764	1725	60	5	1863	5	CCDC129	7	31682809	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	20006284	31682809	127455854	72	113175											
GLI3	2737	broad.mit.edu	37	chr7	42005998	42005998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggtcgtaggagtcggcCacgctcacgttctgcggccg	16	12	2	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr7:42005998C>T	uc011kbh.1	-	15	2764	c.2673G>A	c.(2671-2673)GTG>GTA	p.V891V	GLI3_uc011kbg.1_Silent_p.V832V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	891					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						AGGAGTCGGCCACGCTCACGT	0.731									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42005998	C	T	42005998	2	4	215	1	0	0	0	0	0	0	0	1	6439	581	21	4		4	GLI3	7	42005998	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	10323189	42005998	117132665	73	113176											
DLX5	1749	broad.mit.edu	37	chr7	96651605	96651605	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagctgaaagctggaAtaaatagtcctgggtttacg	13	8	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr7:96651605A>C	uc003uon.2	-	2	640	c.432T>G	c.(430-432)TAT>TAG	p.Y144*	DLX5_uc011kim.1_Nonsense_Mutation_p.Y144*	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	144	Homeobox.				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			ovary(1)	1	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)					GAAAGCTGGAATAAATAGTCC	0.502													C	96651605	A	C	96651605	4	2	215	1	0	0	0	0	0	1	0	0	4574	108	4	5	445	5	DLX5	7	96651605	Nonsense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	54645607	96651605	62487058	74	113177											
DOCK4	9732	broad.mit.edu	37	chr7	111640575	111640575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgggttttttaaggcaaAtcctctgtaccagcctgtgg	10	8	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr7:111640575A>G	uc003vfx.2	-	3	405	c.136T>C	c.(136-138)TTT>CTT	p.F46L	DOCK4_uc003vfy.2_Missense_Mutation_p.F46L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.F46L|DOCK4_uc003vgb.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	46	SH3.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TTTAAGGCAAATCCTCTGTAC	0.244													G	111640575	A	G	111640575	3	3	215	1	0	0	0	0	1	0	0	0	4689	101	4	3	5964	3	DOCK4	7	111640575	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	14988970	111640575	47498088	75	113178											
PTPRN2	5799	broad.mit.edu	37	chr7	157931083	157931083	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcctcgagctactccAtggtccacgccttgcatcag	11	15	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr7:157931083A>T	uc003wno.2	-	7	1156	c.1035T>A	c.(1033-1035)CAT>CAA	p.H345Q	PTPRN2_uc003wnp.2_Missense_Mutation_p.H328Q|PTPRN2_uc003wnq.2_Missense_Mutation_p.H345Q|PTPRN2_uc003wnr.2_Missense_Mutation_p.H307Q|PTPRN2_uc011kwa.1_Missense_Mutation_p.H368Q	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	345	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	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)		GAGCTACTCCATGGTCCACGC	0.667													T	157931083	A	T	157931083	3	4	215	1	0	0	0	0	1	0	0	0	12808	214	8	5	2080	5	PTPRN2	7	157931083	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	46290508	157931083	1207580	76	113179											
CSMD1	64478	broad.mit.edu	37	chr8	2823471	2823471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctggatccccacaacTtataactaataaacagggaa	7	10	0	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:2823471T>G	uc011kwk.1	-	59	9499	c.9109A>C	c.(9109-9111)AGT>CGT	p.S3037R	CSMD1_uc011kwj.1_Missense_Mutation_p.S2366R|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3037	Extracellular (Potential).|Sushi 24.					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)		TCCCCACAACTTATAACTAAT	0.408													G	2823471	T	G	2823471	3	3	215	1	0	0	0	0	1	0	0	0	3944	1609	56	5	1636	5	CSMD1	8	2823471	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08		2823471	143540551	77	113180											
RP1L1	94137	broad.mit.edu	37	chr8	10466216	10466216	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagtttctcccctttcacTtatgccctctccctcctgct	3	20	3	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:10466216T>G	uc003wtc.2	-	4	5621	c.5392A>C	c.(5392-5394)AGT>CGT	p.S1798R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1798					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCCCTTTCACTTATGCCCTCT	0.572													G	10466216	T	G	10466216	3	3	215	1	0	0	0	0	1	0	0	0	13533	1609	56	5	1814	5	RP1L1	8	10466216	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	7642745	10466216	135897806	78	113181											
TUSC3	7991	broad.mit.edu	37	chr8	15480646	15480646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttccagacgctcaatcTtccgaatgaatggtgataaa	10	8	2	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:15480646T>G	uc003wwt.2	+	2	406	c.196T>G	c.(196-198)TTC>GTC	p.F66V	TUSC3_uc003wwr.2_Missense_Mutation_p.F66V|TUSC3_uc003wws.2_Missense_Mutation_p.F66V|TUSC3_uc003wwu.2_Missense_Mutation_p.F66V|TUSC3_uc003wwv.2_Missense_Mutation_p.F66V|TUSC3_uc003www.2_Missense_Mutation_p.F66V|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F66V	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	66					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		ACGCTCAATCTTCCGAATGAA	0.388													G	15480646	T	G	15480646	3	3	215	1	0	0	0	0	1	0	0	0	16775	1609	56	5	202	5	TUSC3	8	15480646	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	5014430	15480646	130883376	79	113182											
CHD7	55636	broad.mit.edu	37	chr8	61655158	61655158	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacagcctcagggaacTtatgcctctccacctcccat	5	18	3	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:61655158T>G	uc003xue.2	+	2	1644	c.1167T>G	c.(1165-1167)ACT>ACG	p.T389T		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	389	Pro-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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			CTCAGGGAACTTATGCCTCTC	0.527													G	61655158	T	G	61655158	2	3	215	1	0	0	0	0	0	0	0	1	3330	1596	56	5		5	CHD7	8	61655158	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	46174512	61655158	84708864	80	113183											
CYP7B1	9420	broad.mit.edu	37	chr8	65527645	65527645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaatccagaccctttcTtttgacctgttgactgcagc	9	11	1	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:65527645T>G	uc003xvj.2	-	4	1199	c.995A>C	c.(994-996)AAG>ACG	p.K332T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	332					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			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGACCCTTTCTTTTGACCTGT	0.443													G	65527645	T	G	65527645	3	3	215	1	0	0	0	0	1	0	0	0	4197	1609	56	5	537	5	CYP7B1	8	65527645	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	3872487	65527645	80836377	81	113184											
KCNB2	9312	broad.mit.edu	37	chr8	73848300	73848300	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaattagcacacgtggAggctgtgtgtattgcatggt	13	9	0	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:73848300A>T	uc003xzb.2	+	3	1298	c.710A>T	c.(709-711)GAG>GTG	p.E237V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	237	Helical; Name=Segment S2; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GCACACGTGGAGGCTGTGTGT	0.458													T	73848300	A	T	73848300	3	4	215	1	0	0	0	0	1	0	0	0	8013	304	11	5	716	5	KCNB2	8	73848300	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	8320655	73848300	72515722	82	113185											
ZFHX4	79776	broad.mit.edu	37	chr8	77616403	77616403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctatgtggaacgacacaacTtgataatgaggtgccagaga	12	7	0	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:77616403T>C	uc003yav.2	+	2	467	c.80T>C	c.(79-81)CTT>CCT	p.L27P	ZFHX4_uc003yat.1_Missense_Mutation_p.L27P|ZFHX4_uc003yau.1_Missense_Mutation_p.L27P|ZFHX4_uc003yaw.1_Missense_Mutation_p.L27P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	27						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGACACAACTTGATAATGAG	0.498										HNSCC(33;0.089)			C	77616403	T	C	77616403	3	2	215	1	0	0	0	0	1	0	0	0	17632	1609	56	3	82	3	ZFHX4	8	77616403	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	3768103	77616403	68747619	83	113186											
TMEM55A	55529	broad.mit.edu	37	chr8	92030645	92030645	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttccacagtgcccacaCacgacccttgtaccttctgg	8	15	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:92030645C>G	uc003yes.2	-	4	685	c.459G>C	c.(457-459)GTG>GTC	p.V153V		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	153						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)			AGTGCCCACACACGACCCTTG	0.433													G	92030645	C	G	92030645	2	3	215	1	0	0	0	0	0	0	0	1	16178	465	17	5		5	TMEM55A	8	92030645	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	14414242	92030645	54333377	84	113187											
RIMS2	9699	broad.mit.edu	37	chr8	105263871	105263871	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcatggatcacaaatcTtttatgggagtggcccagat	12	9	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:105263871T>G	uc003yls.2	+	28	4168	c.3927T>G	c.(3925-3927)TCT>TCG	p.S1309S	RIMS2_uc003ylp.2_Silent_p.S1291S|RIMS2_uc003ylq.2_Silent_p.S1105S|RIMS2_uc003ylr.2_Silent_p.S1130S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1353	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATCACAAATCTTTTATGGGAG	0.413										HNSCC(12;0.0054)			G	105263871	T	G	105263871	2	3	215	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	105263871	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	13233226	105263871	41100151	85	113188											
ANGPT1	284	broad.mit.edu	37	chr8	108264166	108264166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgccactttatcccatTcagttttccatggttttgtc	7	10	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:108264166T>C	uc003ymn.2	-	9	1882	c.1414A>G	c.(1414-1416)AAT>GAT	p.N472D	ANGPT1_uc011lhv.1_Missense_Mutation_p.N272D|ANGPT1_uc003ymo.2_Missense_Mutation_p.N471D	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	472	Fibrinogen C-terminal.				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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTTATCCCATTCAGTTTTCCA	0.403													C	108264166	T	C	108264166	3	2	215	1	0	0	0	0	1	0	0	0	610	1783	62	3	86	3	ANGPT1	8	108264166	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	3000295	108264166	38099856	86	113189											
ZNF34	80778	broad.mit.edu	37	chr8	145998889	145998889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgttgtggaaggccTtcccacactcgctgcacttg	11	12	0	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr8:145998889T>C	uc003zdy.3	-	6	1547	c.1445A>G	c.(1444-1446)AAG>AGG	p.K482R	ZNF34_uc010mgb.2_Missense_Mutation_p.K379R|ZNF34_uc003zdx.3_Missense_Mutation_p.K461R	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	482	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTGGAAGGCCTTCCCACACTC	0.537													C	145998889	T	C	145998889	3	2	215	1	0	0	0	0	1	0	0	0	17853	1609	56	3	241	3	ZNF34	8	145998889	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	37734723	145998889	365133	87	113190											
PTPRD	5789	broad.mit.edu	37	chr9	8341129	8341129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggcattgatgtaatcagatCcttctactccacggataggc	9	10	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr9:8341129C>A	uc003zkk.2	-	40	5798	c.5087G>T	c.(5086-5088)GGA>GTA	p.G1696V	PTPRD_uc003zkp.2_Missense_Mutation_p.G1290V|PTPRD_uc003zkq.2_Missense_Mutation_p.G1289V|PTPRD_uc003zkr.2_Missense_Mutation_p.G1280V|PTPRD_uc003zks.2_Missense_Mutation_p.G1289V|PTPRD_uc003zkl.2_Missense_Mutation_p.G1687V|PTPRD_uc003zkm.2_Missense_Mutation_p.G1683V|PTPRD_uc003zkn.2_Missense_Mutation_p.G1285V|PTPRD_uc003zko.2_Missense_Mutation_p.G1286V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1696	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		GTAATCAGATCCTTCTACTCC	0.388										TSP Lung(15;0.13)			A	8341129	C	A	8341129	3	1	215	1	0	0	0	0	1	0	0	0	12799	855	30	5	675	5	PTPRD	9	8341129	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08		8341129	132872302	88	113191											
DENND4C	55667	broad.mit.edu	37	chr9	19346825	19346825	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagtgtccaggtctaAaacttttactgggcgtttca	9	10	2	0	rs144390071	byFrequency	TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr9:19346825A>C	uc003znq.2	+	18	3236	c.3203A>C	c.(3202-3204)AAA>ACA	p.K1068T	DENND4C_uc011lnc.1_Missense_Mutation_p.K398T|DENND4C_uc011lnd.1_Missense_Mutation_p.K356T|DENND4C_uc003znr.2_Missense_Mutation_p.K356T|DENND4C_uc003zns.2_Missense_Mutation_p.K250T|DENND4C_uc003znt.2_Missense_Mutation_p.K250T	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1068						integral to membrane				ovary(1)|skin(1)	2						TCCAGGTCTAAAACTTTTACT	0.478													C	19346825	A	C	19346825	3	2	215	1	0	0	0	0	1	0	0	0	4435	14	1	5	3273	5	DENND4C	9	19346825	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	11005696	19346825	121866606	89	113192											
ZNF322B	387328	broad.mit.edu	37	chr9	99961628	99961628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacataataagagctaAgttttcacacaagttttgct	5	9	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr9:99961628A>C	uc004axd.1	-	1	283	c.166T>G	c.(166-168)TTA>GTA	p.L56V	uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	NM_199005	NP_945356			zinc finger protein 322B												0		Acute lymphoblastic leukemia(62;0.158)				ATAAGAGCTAAGTTTTCACAC	0.358													C	99961628	A	C	99961628	3	2	215	1	0	0	0	0	1	0	0	0	17839	69	3	5	1046	5	ZNF322B	9	99961628	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	80614803	99961628	41251803	90	113193											
ALAD	210	broad.mit.edu	37	chr9	116155727	116155727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccattcttggagactcacGtgacaaagatggggtagatg	13	8	2	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr9:116155727G>A	uc011lxf.1	-	2	315	c.113C>T	c.(112-114)ACG>ATG	p.T38M	ALAD_uc011lxe.1_Missense_Mutation_p.T38M|ALAD_uc004bhl.3_Missense_Mutation_p.R12C	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	38					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	GGAGACTCACGTGACAAAGAT	0.537													A	116155727	G	A	116155727	3	1	215	1	0	0	0	0	1	0	0	0	483	1159	40	1	923	1	ALAD	9	116155727	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	16194099	116155727	25057704	91	113194											
DBC1	1620	broad.mit.edu	37	chr9	121976287	121976287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtccgtgatggggcAgttgcactgcggaaactcct	14	10	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr9:121976287A>G	uc004bkc.2	-	6	1288	c.832T>C	c.(832-834)TGC>CGC	p.C278R	DBC1_uc004bkd.2_Missense_Mutation_p.C278R	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	278					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GTGATGGGGCAGTTGCACTGC	0.557													G	121976287	A	G	121976287	3	3	215	1	0	0	0	0	1	0	0	0	4247	188	7	3	1465	3	DBC1	9	121976287	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	5820560	121976287	19237144	92	113195											
LHX3	8022	broad.mit.edu	37	chr9	139091542	139091542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctcgctgcttggcggtttCgtagtccgccttgcacacga	11	14	0	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr9:139091542C>T	uc004cha.2	-	3	533	c.436G>A	c.(436-438)GAA>AAA	p.E146K	LHX3_uc004cgz.2_Missense_Mutation_p.E151K	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	146					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			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TTGGCGGTTTCGTAGTCCGCC	0.657													T	139091542	C	T	139091542	3	4	215	1	0	0	0	0	1	0	0	0	8772	893	31	1	773	1	LHX3	9	139091542	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	17115255	139091542	2121889	93	113196											
AKR1C4	1109	broad.mit.edu	37	chr10	5242199	5242199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaatagaagctggcttccGccatattgattctgcttatt	8	9	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr10:5242199G>A	uc001ihw.2	+	2	173	c.140G>A	c.(139-141)CGC>CAC	p.R47H		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	47					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			ovary(1)	1					NADH(DB00157)	GCTGGCTTCCGCCATATTGAT	0.443													A	5242199	G	A	5242199	3	1	215	1	0	0	0	0	1	0	0	0	472	1087	38	1	146	1	AKR1C4	10	5242199	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08		5242199	130292548	94	113197											
CUBN	8029	broad.mit.edu	37	chr10	17113494	17113494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagttgaggagaatgacTtggctttggggctggtggat	18	3	0	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr10:17113494T>C	uc001ioo.2	-	19	2608	c.2556A>G	c.(2554-2556)CAA>CAG	p.Q852Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	852	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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGAATGACTTGGCTTTGGG	0.423													C	17113494	T	C	17113494	2	2	215	1	0	0	0	0	0	0	0	1	4051	1606	56	3		3	CUBN	10	17113494	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	11871295	17113494	118421253	95	113198											
ARMC3	219681	broad.mit.edu	37	chr10	23292249	23292249	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaggcagcttataataAgttgctcaataacaatcttt	7	7	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr10:23292249A>C	uc001irm.3	+	13	1720	c.1637A>C	c.(1636-1638)AAG>ACG	p.K546T	ARMC3_uc010qcv.1_Missense_Mutation_p.K546T|ARMC3_uc010qcw.1_Missense_Mutation_p.K283T	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	546							binding				0						GCTTATAATAAGTTGCTCAAT	0.348													C	23292249	A	C	23292249	3	2	215	1	0	0	0	0	1	0	0	0	952	72	3	5	1683	5	ARMC3	10	23292249	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	6178755	23292249	112242498	96	113199											
PCDH15	65217	broad.mit.edu	37	chr10	55582808	55582808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccctcagagacttacTcttggcttgtattttgggtg	12	9	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr10:55582808T>C	uc001jju.1	-	33	5073	c.4678A>G	c.(4678-4680)AGT>GGT	p.S1560G	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S1557G|PCDH15_uc010qhw.1_Missense_Mutation_p.S1520G|PCDH15_uc010qhx.1_Missense_Mutation_p.S1491G|PCDH15_uc010qhy.1_Missense_Mutation_p.S1567G|PCDH15_uc010qhz.1_Missense_Mutation_p.S1562G|PCDH15_uc010qia.1_Missense_Mutation_p.S1540G|PCDH15_uc010qib.1_Missense_Mutation_p.S1537G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1560	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAGACTTACTCTTGGCTTGT	0.423										HNSCC(58;0.16)			C	55582808	T	C	55582808	3	2	215	1	0	0	0	0	1	0	0	0	11511	1551	54	3	2799	3	PCDH15	10	55582808	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	32290559	55582808	79951939	97	113200											
NRG3	10718	broad.mit.edu	37	chr10	84711261	84711261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcaggtgctgtcaaTttcatgtatcatctttggaa	9	7	5	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr10:84711261T>G	uc001kco.2	+	5	1118	c.1091T>G	c.(1090-1092)ATT>AGT	p.I364S	NRG3_uc010qlz.1_Missense_Mutation_p.I363S|NRG3_uc001kcp.2_Missense_Mutation_p.I143S|NRG3_uc001kcq.2_Missense_Mutation_p.I14S|NRG3_uc001kcr.2_Missense_Mutation_p.I14S	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	364	Helical; Note=Internal signal sequence; (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTGCTGTCAATTTCATGTATC	0.383													G	84711261	T	G	84711261	3	3	215	1	0	0	0	0	1	0	0	0	10649	1493	52	5	1277	5	NRG3	10	84711261	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	29128453	84711261	50823486	98	113201											
MKI67	4288	broad.mit.edu	37	chr10	129900854	129900854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcaccttattttcagGgaccgagtcttgtaatttgt	7	10	3	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr10:129900854G>A	uc001lke.2	-	13	9445	c.9250C>T	c.(9250-9252)CCT>TCT	p.P3084S	MKI67_uc001lkf.2_Missense_Mutation_p.P2724S|MKI67_uc009yav.1_Missense_Mutation_p.P2659S|MKI67_uc009yaw.1_Missense_Mutation_p.P2234S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3084					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TTATTTTCAGGGACCGAGTCT	0.388													A	129900854	G	A	129900854	3	1	215	1	0	0	0	0	1	0	0	0	9598	1232	43	4	532	4	MKI67	10	129900854	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	45189593	129900854	5633893	99	113202											
OR51T1	401665	broad.mit.edu	37	chr11	4904025	4904025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttacagcttgaagaccaAgacaatccgccaggctatgt	8	11	0	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:4904025A>G	uc010qyp.1	+	1	977	c.977A>G	c.(976-978)AAG>AGG	p.K326R		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		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)		TTGAAGACCAAGACAATCCGC	0.483													G	4904025	A	G	4904025	3	3	215	1	0	0	0	0	1	0	0	0	11106	72	3	3	979	3	OR51T1	11	4904025	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08		4904025	130102491	100	113203											
OR51B5	282763	broad.mit.edu	37	chr11	5364505	5364505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctccctgtgatccagccAgaggactcccagcaccgtgg	10	15	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:5364505A>G	uc001map.1	-	1	250	c.250T>C	c.(250-252)TGG>CGG	p.W84R	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.W84R	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		TGATCCAGCCAGAGGACTCCC	0.557													G	5364505	A	G	5364505	3	3	215	1	0	0	0	0	1	0	0	0	11091	188	7	3	692	3	OR51B5	11	5364505	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	460480	5364505	129642011	101	113204											
CNGA4	1262	broad.mit.edu	37	chr11	6265440	6265440	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgatctacagaccaAgtttgctcgcctcctggctg	11	12	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:6265440A>C	uc001mco.2	+	6	1636	c.1529A>C	c.(1528-1530)AAG>ACG	p.K510T	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	510	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		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)		CTACAGACCAAGTTTGCTCGC	0.587													C	6265440	A	C	6265440	3	2	215	1	0	0	0	0	1	0	0	0	3599	72	3	5	1551	5	CNGA4	11	6265440	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	900935	6265440	128741076	102	113205											
NAV2	89797	broad.mit.edu	37	chr11	20077343	20077343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactgtcacccagatgagCttgtccaacccgaccatgct	7	16	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:20077343C>T	uc010rdm.1	+	20	5101	c.4740C>T	c.(4738-4740)AGC>AGT	p.S1580S	NAV2_uc001mpp.2_Silent_p.S1493S|NAV2_uc001mpr.3_Silent_p.S1557S|NAV2_uc001mpt.2_Silent_p.S606S|NAV2_uc009yhx.2_Silent_p.S621S|NAV2_uc009yhy.1_Silent_p.S519S|NAV2_uc009yhz.2_Silent_p.S202S|NAV2_uc001mpu.2_5'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1580	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CCCAGATGAGCTTGTCCAACC	0.498													T	20077343	C	T	20077343	2	4	215	1	0	0	0	0	0	0	0	1	10184	796	28	2		2	NAV2	11	20077343	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	13811903	20077343	114929173	103	113206											
GAS2	2620	broad.mit.edu	37	chr11	22833442	22833442	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctgccgaatgctgcagatCtcccgtgtggatggcaaaac	11	13	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:22833442C>T	uc009yie.2	+	8	1128	c.822C>T	c.(820-822)ATC>ATT	p.I274I	GAS2_uc001mqm.2_Silent_p.I274I|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Silent_p.I274I	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	274					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						TGCTGCAGATCTCCCGTGTGG	0.483													T	22833442	C	T	22833442	2	4	215	1	0	0	0	0	0	0	0	1	6245	903	32	4		4	GAS2	11	22833442	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	2756099	22833442	112173074	104	113207											
WT1	7490	broad.mit.edu	37	chr11	32414236	32414236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcctttggtgtctttTgagctggtctgaacgagaaa	11	7	3	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:32414236T>G	uc001mtn.1	-	8	1511	c.1315A>C	c.(1315-1317)AAA>CAA	p.K439Q	WT1_uc001mtl.1_Missense_Mutation_p.K227Q|WT1_uc001mtm.1_Missense_Mutation_p.K210Q|WT1_uc001mto.1_Missense_Mutation_p.K439Q|WT1_uc001mtp.1_Missense_Mutation_p.K422Q|WT1_uc001mtq.1_Missense_Mutation_p.K422Q|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	371	C2H2-type 2.|Important for interaction with target DNA.				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(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTGTCTTTTGAGCTGGTCT	0.428			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				G	32414236	T	G	32414236	3	3	215	1	0	0	0	0	1	0	0	0	17405	1821	63	5	250	5	WT1	11	32414236	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	9580794	32414236	102592280	105	113208											
OR5D14	219436	broad.mit.edu	37	chr11	55563186	55563186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgatcataataatcaAgattaaccccaaatttcaca	5	8	3	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:55563186A>T	uc010rim.1	+	1	155	c.155A>T	c.(154-156)AAG>ATG	p.K52M		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				ATAATAATCAAGATTAACCCC	0.388													T	55563186	A	T	55563186	3	4	215	1	0	0	0	0	1	0	0	0	11155	72	3	5	157	5	OR5D14	11	55563186	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	23148950	55563186	79443330	106	113209											
OR5D14	219436	broad.mit.edu	37	chr11	55563610	55563610	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctctgtgtctggctctgaTatactcatcccccacctgct	6	15	4	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:55563610T>A	uc010rim.1	+	1	579	c.579T>A	c.(577-579)GAT>GAA	p.D193E		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CTGGCTCTGATATACTCATCC	0.428													A	55563610	T	A	55563610	3	1	215	1	0	0	0	0	1	0	0	0	11155	1403	49	5	581	5	OR5D14	11	55563610	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	424	55563610	79442906	107	113210											
OR5AP2	338675	broad.mit.edu	37	chr11	56409864	56409864	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagtcctaagaggagaaAttctgttacttctgtttgat	10	5	2	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:56409864A>C	uc001njb.1	-	1	52	c.52T>G	c.(52-54)TTT>GTT	p.F18V		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						AAGAGGAGAAATTCTGTTACT	0.398													C	56409864	A	C	56409864	3	2	215	1	0	0	0	0	1	0	0	0	11144	101	4	5	902	5	OR5AP2	11	56409864	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	846254	56409864	78596652	108	113211											
GPR137	56834	broad.mit.edu	37	chr11	64056123	64056123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcctctcggtcctacTtctttgaccgggctgggcac	10	14	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:64056123T>G	uc001nzg.1	+	7	1269	c.961T>G	c.(961-963)TTC>GTC	p.F321V	GPR137_uc010rni.1_Missense_Mutation_p.F379V|GPR137_uc001nzf.2_Missense_Mutation_p.F271V|GPR137_uc001nzi.2_Missense_Mutation_p.F321V|GPR137_uc010rnj.1_Intron|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	321	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						TCGGTCCTACTTCTTTGACCG	0.617													G	64056123	T	G	64056123	3	3	215	1	0	0	0	0	1	0	0	0	6645	1609	56	5	1165	5	GPR137	11	64056123	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	7646259	64056123	70950393	109	113212											
SLC22A11	55867	broad.mit.edu	37	chr11	64329765	64329765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggaccacgaccagcaggAgggcggtcaccatgacggtg	16	11	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:64329765A>G	uc001oai.2	+	4	1053	c.679A>G	c.(679-681)AGG>GGG	p.R227G	SLC22A11_uc001oah.1_Missense_Mutation_p.E192G|SLC22A11_uc001oaj.2_Missense_Mutation_p.R227G|SLC22A11_uc009ypq.2_Missense_Mutation_p.R227G|SLC22A11_uc001oak.1_Missense_Mutation_p.R56G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	227	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	GACCAGCAGGAGGGCGGTCAC	0.687													G	64329765	A	G	64329765	3	3	215	1	0	0	0	0	1	0	0	0	14442	295	11	3	693	3	SLC22A11	11	64329765	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	273642	64329765	70676751	110	113213											
RASGRP2	10235	broad.mit.edu	37	chr11	64496457	64496457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcacactctgggccctgCgccgacactcaactgacagg	11	16	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:64496457C>T	uc009ypu.2	-	15	1876	c.1649G>A	c.(1648-1650)CGC>CAC	p.R550H	RASGRP2_uc001oat.2_Missense_Mutation_p.R452H|RASGRP2_uc001oau.2_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.2_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.2_Missense_Mutation_p.R550H	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	550					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				0						CTGGGCCCTGCGCCGACACTC	0.637													T	64496457	C	T	64496457	3	4	215	1	0	0	0	0	1	0	0	0	13075	768	27	1	188	1	RASGRP2	11	64496457	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	166692	64496457	70510059	111	113214											
SPTBN2	6712	broad.mit.edu	37	chr11	66468026	66468026	+	Frame_Shift_Del	DEL	G	G	-													gagcacgccctcagcctgacGagcatcccgcaggaatccct							TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:66468026delG	uc001ojd.2	-	16	3616	c.3544delC	c.(3544-3546)CGTfs	p.R1182fs		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1182	Spectrin 9.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCAGCCTGACGAGCATCCCGC	0.647													-	66468026	G	-	66468026	7	5	215	1	0	1	0	1	0	0	0	0	15119	1058	37	0	3716	0	SPTBN2	11	66468026	Frame_Shift_Del	DEL	G	TCGA-D7-6818-01A-11D-1882-08	1971569	66468026	68538490	112	113215											
NAALAD2	10003	broad.mit.edu	37	chr11	89880537	89880537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctggcaggaacagaacaAaatttcttgcttgccaagaa	8	9	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:89880537A>C	uc001pdf.3	+	3	343	c.234A>C	c.(232-234)CAA>CAC	p.Q78H	NAALAD2_uc009yvx.2_Missense_Mutation_p.Q78H|NAALAD2_uc009yvy.2_Missense_Mutation_p.Q78H|NAALAD2_uc001pdd.2_Missense_Mutation_p.Q78H|NAALAD2_uc001pde.2_Missense_Mutation_p.Q78H	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	78	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAACAGAACAAAATTTCTTGC	0.378													C	89880537	A	C	89880537	3	2	215	1	0	0	0	0	1	0	0	0	10128	11	1	5	244	5	NAALAD2	11	89880537	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	23412511	89880537	45125979	113	113216											
DYNC2H1	79659	broad.mit.edu	37	chr11	103124033	103124033	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacgttatgtggtacaAataggtgacaaaattattga	10	5	0	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:103124033A>C	uc001pho.2	+	66	10206	c.10062A>C	c.(10060-10062)CAA>CAC	p.Q3354H	DYNC2H1_uc001phn.1_Missense_Mutation_p.Q3361H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3354	AAA 5 (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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGTGGTACAAATAGGTGACA	0.318													C	103124033	A	C	103124033	3	2	215	1	0	0	0	0	1	0	0	0	4846	11	1	5	10349	5	DYNC2H1	11	103124033	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	13243496	103124033	31882483	114	113217											
TTC12	54970	broad.mit.edu	37	chr11	113220875	113220875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgttcacagacttggCtctggaagaaaggtaatttt	12	6	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:113220875C>T	uc001pnu.2	+	14	1340	c.1235C>T	c.(1234-1236)GCT>GTT	p.A412V	TTC12_uc001pnv.2_Missense_Mutation_p.A418V|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.A262V	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	412							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACAGACTTGGCTCTGGAAGAA	0.368													T	113220875	C	T	113220875	3	4	215	1	0	0	0	0	1	0	0	0	16676	797	28	2	1285	2	TTC12	11	113220875	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	10096842	113220875	21785641	115	113218											
ZBTB16	7704	broad.mit.edu	37	chr11	114118040	114118040	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaatggctgtggcaagaAgttcagcctcaagcatcagc	12	10	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:114118040A>C	uc001pop.2	+	6	2009	c.1745A>C	c.(1744-1746)AAG>ACG	p.K582T	ZBTB16_uc001poq.2_Missense_Mutation_p.K582T	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	582	C2H2-type 7.				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)|skin(1)	2		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)		TGTGGCAAGAAGTTCAGCCTC	0.597													C	114118040	A	C	114118040	3	2	215	1	0	0	0	0	1	0	0	0	17523	72	3	5	1763	5	ZBTB16	11	114118040	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	897165	114118040	20888476	116	113219											
BCL9L	283149	broad.mit.edu	37	chr11	118771672	118771672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaagtgccccatgcccGgtgagcccatctgattaata	8	13	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr11:118771672G>A	uc001pug.2	-	6	3745	c.2780C>T	c.(2779-2781)CCG>CTG	p.P927L	BCL9L_uc009zal.2_Missense_Mutation_p.P922L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	927	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			ovary(1)|pancreas(1)	2	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)		CCCCATGCCCGGTGAGCCCAT	0.627													A	118771672	G	A	118771672	3	1	215	1	0	0	0	0	1	0	0	0	1382	1116	39	1	1731	1	BCL9L	11	118771672	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	4653632	118771672	16234844	117	113220											
CD163L1	283316	broad.mit.edu	37	chr12	7531837	7531837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctggacattcacctcaActtttccagcacacctgctg	5	17	2	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:7531837A>C	uc001qsy.2	-	9	2134	c.2108T>G	c.(2107-2109)GTT>GGT	p.V703G	CD163L1_uc010sge.1_Missense_Mutation_p.V713G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	703	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						ATTCACCTCAACTTTTCCAGC	0.478													C	7531837	A	C	7531837	3	2	215	1	0	0	0	0	1	0	0	0	2968	43	2	5	2297	5	CD163L1	12	7531837	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08		7531837	126320058	118	113221											
LST-3TM12	338821	broad.mit.edu	37	chr12	21200120	21200120	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtggagcaacagtatggTtggtctgcatctaagactaa	12	6	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:21200120T>G	uc010sin.1	+	7	963	c.963T>G	c.(961-963)GGT>GGG	p.G321G	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.G368G	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	321						membrane	transporter activity				0						AACAGTATGGTTGGTCTGCAT	0.328													G	21200120	T	G	21200120	2	3	215	1	0	0	0	0	0	0	0	1	9066	1712	60	5		5	LST-3TM12	12	21200120	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	13668283	21200120	112651775	119	113222											
ALG10	84920	broad.mit.edu	37	chr12	34177047	34177047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcagtgttggcaacTtctatttactatatttgctt	5	8	3	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:34177047T>C	uc001rlm.2	+	2	641	c.322T>C	c.(322-324)TTC>CTC	p.F108L		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	108	Helical; (Potential).				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			skin(1)	1	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)				TGTTGGCAACTTCTATTTACT	0.368													C	34177047	T	C	34177047	3	2	215	1	0	0	0	0	1	0	0	0	511	1609	56	3	328	3	ALG10	12	34177047	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	12976927	34177047	99674848	120	113223											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777757	43777757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacatccctctgctgaacTccagagccacaggtcacaga	7	14	2	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:43777757T>C	uc010skx.1	-	30	4476	c.4476A>G	c.(4474-4476)GGA>GGG	p.G1492G		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1492	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)		TCTGCTGAACTCCAGAGCCAC	0.433													C	43777757	T	C	43777757	2	2	215	1	0	0	0	0	0	0	0	1	266	1538	54	3		3	ADAMTS20	12	43777757	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	9600710	43777757	90074138	121	113224											
KRT73	319101	broad.mit.edu	37	chr12	53002152	53002152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccccgctgacagagctgGgccagtagccgtaggtgcca	14	14	0	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:53002152G>T	uc001sas.2	-	9	1486	c.1451C>A	c.(1450-1452)CCC>CAC	p.P484H		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	484	Tail.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACAGAGCTGGGCCAGTAGCC	0.652													T	53002152	G	T	53002152	3	4	215	1	0	0	0	0	1	0	0	0	8486	1232	43	5	175	5	KRT73	12	53002152	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	9224395	53002152	80849743	122	113225											
PDE1B	5153	broad.mit.edu	37	chr12	54960855	54960855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgctggaagccgtcTacatagatgagacacggtga	11	10	2	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:54960855T>C	uc001sgd.1	+	3	377	c.211T>C	c.(211-213)TAC>CAC	p.Y71H	PDE1B_uc010soz.1_5'UTR|PDE1B_uc010spa.1_Missense_Mutation_p.Y30H|PDE1B_uc001sgf.2_5'UTR|PDE1B_uc001sge.2_Missense_Mutation_p.Y51H|PDE1B_uc009znq.2_5'UTR	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	71					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			upper_aerodigestive_tract(1)|ovary(1)	2						GGAAGCCGTCTACATAGATGa	0.264													C	54960855	T	C	54960855	3	2	215	1	0	0	0	0	1	0	0	0	11634	1522	53	3	274	3	PDE1B	12	54960855	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	1958703	54960855	78891040	123	113226											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449826	85449826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatatttcaaatgatAagggtgatatagccaaaaat	8	3	1	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:85449826A>C	uc001tac.2	+	8	1366	c.1255A>C	c.(1255-1257)AAG>CAG	p.K419Q	LRRIQ1_uc001tab.1_Missense_Mutation_p.K419Q|LRRIQ1_uc001taa.1_Missense_Mutation_p.K394Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	419										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TTCAAATGATAAGGGTGATAT	0.318													C	85449826	A	C	85449826	3	2	215	1	0	0	0	0	1	0	0	0	9029	363	13	5	1281	5	LRRIQ1	12	85449826	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	30488971	85449826	48402069	124	113227											
C12orf50	160419	broad.mit.edu	37	chr12	88388493	88388493	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctttcatattggctaAgttttgtcggaactgtaaga	9	7	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:88388493A>C	uc001tam.1	-	7	677	c.509T>G	c.(508-510)CTT>CGT	p.L170R	C12orf50_uc001tan.2_Missense_Mutation_p.L224R	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	170										skin(2)|ovary(1)	3						ATATTGGCTAAGTTTTGTCGG	0.323													C	88388493	A	C	88388493	3	2	215	1	0	0	0	0	1	0	0	0	1695	72	3	5	763	5	C12orf50	12	88388493	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	2938667	88388493	45463402	125	113228											
TAOK3	51347	broad.mit.edu	37	chr12	118619209	118619209	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagccacttgcttcttggcCagcttctccagctcgatgga	9	13	2	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr12:118619209C>A	uc001twx.2	-	15	1828	c.1533G>T	c.(1531-1533)CTG>CTT	p.L511L	TAOK3_uc001twv.2_Silent_p.L51L|TAOK3_uc001tww.2_Silent_p.L341L|TAOK3_uc001twy.3_Silent_p.L511L	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	511					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCTTGGCCAGCTTCTCCA	0.552											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	118619209	C	A	118619209	2	1	215	1	0	0	0	0	0	0	0	1	15546	581	21	5		5	TAOK3	12	118619209	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	30230716	118619209	15232686	126	113229											
NALCN	259232	broad.mit.edu	37	chr13	101717888	101717888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagccgcagcaggaacTtgacgcggaacgtggggatc	16	10	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr13:101717888T>G	uc001vox.1	-	40	4661	c.4472A>C	c.(4471-4473)AAG>ACG	p.K1491T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1491	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGCAGGAACTTGACGCGGAA	0.527													G	101717888	T	G	101717888	3	3	215	1	0	0	0	0	1	0	0	0	10148	1609	56	5	764	5	NALCN	13	101717888	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08		101717888	13451990	127	113230											
NALCN	259232	broad.mit.edu	37	chr13	102051417	102051417	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attatccgacagagactcatCaggaccaaagtcagtgactg	9	10	3	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr13:102051417C>T	uc001vox.1	-	2	250	c.61G>A	c.(61-63)GAT>AAT	p.D21N	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.D21N|NALCN_uc001vpa.2_Missense_Mutation_p.D21N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	21	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGACTCATCAGGACCAAAG	0.458													T	102051417	C	T	102051417	3	4	215	1	0	0	0	0	1	0	0	0	10148	826	29	4	5327	4	NALCN	13	102051417	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	333529	102051417	13118461	128	113231											
ACIN1	22985	broad.mit.edu	37	chr14	23530626	23530626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatcccattcacgctctgatCgagtccgctcccgccgctcc	8	19	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr14:23530626C>A	uc001wit.3	-	17	3807	c.3479G>T	c.(3478-3480)CGA>CTA	p.R1160L	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R402L|ACIN1_uc001wiq.3_Missense_Mutation_p.R402L|ACIN1_uc001wir.3_Missense_Mutation_p.R433L|ACIN1_uc001wis.3_Missense_Mutation_p.R841L|ACIN1_uc010akg.2_Missense_Mutation_p.R1147L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1160	Arg/Asp/Glu/Lys-rich.		R -> Q (in a colorectal cancer sample; somatic mutation).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.R1160Q(1)		ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACGCTCTGATCGAGTCCGCTC	0.642													A	23530626	C	A	23530626	3	1	215	1	0	0	0	0	1	0	0	0	142	884	31	5	558	5	ACIN1	14	23530626	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08		23530626	83818914	129	113232											
AKAP6	9472	broad.mit.edu	37	chr14	33292966	33292966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctactcccactgagaagTctttctcagaactggcttta	6	13	3	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr14:33292966T>C	uc001wrq.2	+	13	6117	c.5947T>C	c.(5947-5949)TCT>CCT	p.S1983P		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1983					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		CACTGAGAAGTCTTTCTCAGA	0.413													C	33292966	T	C	33292966	3	2	215	1	0	0	0	0	1	0	0	0	455	1667	58	3	5993	3	AKAP6	14	33292966	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	9762340	33292966	74056574	130	113233											
LRFN5	145581	broad.mit.edu	37	chr14	42356853	42356853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtatgataacggaacacTtgacattcttatcacaactg	8	8	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr14:42356853T>C	uc001wvm.2	+	3	2223	c.1025T>C	c.(1024-1026)CTT>CCT	p.L342P	LRFN5_uc010ana.2_Missense_Mutation_p.L342P	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	342	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACGGAACACTTGACATTCTT	0.423										HNSCC(30;0.082)			C	42356853	T	C	42356853	3	2	215	1	0	0	0	0	1	0	0	0	8941	1609	56	3	1027	3	LRFN5	14	42356853	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	9063887	42356853	64992687	131	113234											
SIX6	4990	broad.mit.edu	37	chr14	60976152	60976152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttgaatttcagcccccaGcaagtggccggggtatgtga	12	10	2	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr14:60976152G>T	uc001xfa.3	+	1	215	c.36G>T	c.(34-36)CAG>CAT	p.Q12H		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	12					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TCAGCCCCCAGCAAGTGGCCG	0.697													T	60976152	G	T	60976152	3	4	215	1	0	0	0	0	1	0	0	0	14351	962	34	5	38	5	SIX6	14	60976152	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	18619299	60976152	46373388	132	113235											
ACTN1	87	broad.mit.edu	37	chr14	69349291	69349291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcagagcttggtccctccGaggcaccagctgccgcacct	11	17	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr14:69349291G>A	uc001xkl.2	-	16	2147	c.1837C>T	c.(1837-1839)CGG>TGG	p.R613W	ACTN1_uc001xkk.2_Missense_Mutation_p.R209W|ACTN1_uc010ttb.1_Missense_Mutation_p.R548W|ACTN1_uc001xkm.2_Missense_Mutation_p.R613W|ACTN1_uc001xkn.2_Missense_Mutation_p.R613W|ACTN1_uc010ttc.1_Missense_Mutation_p.R198W	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	613	Interaction with DDN.|Spectrin 3.				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			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGGTCCCTCCGAGGCACCAGC	0.597													A	69349291	G	A	69349291	3	1	215	1	0	0	0	0	1	0	0	0	204	1057	37	1	935	1	ACTN1	14	69349291	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	8373139	69349291	38000249	133	113236											
HHIPL1	84439	broad.mit.edu	37	chr14	100123443	100123443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagatggcgggatggccGgagacccctttgggacattt	16	9	0	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr14:100123443G>A	uc010avs.2	+	3	1074	c.1009G>A	c.(1009-1011)GGA>AGA	p.G337R	HHIPL1_uc001ygl.1_Missense_Mutation_p.G337R	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	337					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				CGGGATGGCCGGAGACCCCTT	0.527													A	100123443	G	A	100123443	3	1	215	1	0	0	0	0	1	0	0	0	7093	1117	39	1	1019	1	HHIPL1	14	100123443	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	30774152	100123443	7226097	134	113237											
SLC24A5	283652	broad.mit.edu	37	chr15	48414059	48414059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccttaacaggaaatAgcacccaatgtgttatttct	5	10	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr15:48414059A>G	uc001zwe.2	+	2	200	c.127A>G	c.(127-129)AGC>GGC	p.S43G	SLC24A5_uc001zwd.2_Missense_Mutation_p.S43G|SLC24A5_uc010bel.2_Intron	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	43	Extracellular (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AACAGGAAATAGCACCCAATG	0.428													G	48414059	A	G	48414059	3	3	215	1	0	0	0	0	1	0	0	0	14469	420	15	3	133	3	SLC24A5	15	48414059	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08		48414059	54117333	135	113238											
SECISBP2L	9728	broad.mit.edu	37	chr15	49303966	49303966	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcaagtcatcaataAaatctaagtgcatttctgtt	7	8	4	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr15:49303966A>C	uc001zxe.1	-	13	1960	c.1826T>G	c.(1825-1827)TTT>TGT	p.F609C	SECISBP2L_uc001zxd.1_Missense_Mutation_p.F564C|SECISBP2L_uc010bep.1_Missense_Mutation_p.F371C	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	609										breast(1)|skin(1)	2						GTCATCAATAAAATCTAAGTG	0.403													C	49303966	A	C	49303966	3	2	215	1	0	0	0	0	1	0	0	0	14007	14	1	5	1503	5	SECISBP2L	15	49303966	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	889907	49303966	53227426	136	113239											
PDE8A	5151	broad.mit.edu	37	chr15	85619125	85619125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaaactctcagaaaacaCagttattgttggtgtagtac	7	7	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr15:85619125C>T	uc002blh.2	+	4	656	c.467C>T	c.(466-468)ACA>ATA	p.T156I	PDE8A_uc002bli.2_Missense_Mutation_p.T156I|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	156					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TCAGAAAACACAGTTATTGTT	0.279													T	85619125	C	T	85619125	3	4	215	1	0	0	0	0	1	0	0	0	11653	478	17	4	481	4	PDE8A	15	85619125	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	36315159	85619125	16912267	137	113240											
NPRL3	8131	broad.mit.edu	37	chr16	160567	160567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccagcttgcacttgggCaggatgtgatggaatgggga	17	7	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr16:160567C>T	uc002cfr.2	-	7	684	c.585G>A	c.(583-585)CTG>CTA	p.L195L	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.L16L|NPRL3_uc010uub.1_Silent_p.L170L|NPRL3_uc010uuc.1_Silent_p.L117L|NPRL3_uc002cfs.1_Silent_p.L170L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	195							protein binding			ovary(1)	1						TGCACTTGGGCAGGATGTGAT	0.423													T	160567	C	T	160567	2	4	215	1	0	0	0	0	0	0	0	1	10598	697	25	2		2	NPRL3	16	160567	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08		160567	90194186	138	113241											
MYH11	4629	broad.mit.edu	37	chr16	15841950	15841950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggttggggaagccctgccGgcagatgcgaatgccttcca	14	13	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr16:15841950G>A	uc002ddy.2	-	17	2241	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W	MYH11_uc002ddv.2_Missense_Mutation_p.R719W|MYH11_uc002ddw.2_Missense_Mutation_p.R712W|MYH11_uc002ddx.2_Missense_Mutation_p.R719W|MYH11_uc010bvg.2_Missense_Mutation_p.R544W	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	712	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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAGCCCTGCCGGCAGATGCGA	0.637			T	CBFB	AML								A	15841950	G	A	15841950	3	1	215	1	0	0	0	0	1	0	0	0	10031	1115	39	1	3919	1	MYH11	16	15841950	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	15681383	15841950	74512803	139	113242											
ACSM2A	123876	broad.mit.edu	37	chr16	20481029	20481029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggtggctgaacttcaAgaaactactaaagtgagtat	11	5	1	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr16:20481029A>G	uc010bwe.2	+	5	823	c.584A>G	c.(583-585)AAG>AGG	p.K195R	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.K116R|ACSM2A_uc002dhf.3_Missense_Mutation_p.K195R|ACSM2A_uc002dhg.3_Missense_Mutation_p.K195R|ACSM2A_uc010vay.1_Missense_Mutation_p.K116R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	195					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CTGAACTTCAAGAAACTACTA	0.269													G	20481029	A	G	20481029	3	3	215	1	0	0	0	0	1	0	0	0	183	72	3	3	594	3	ACSM2A	16	20481029	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	4639079	20481029	69873724	140	113243											
TNRC6A	27327	broad.mit.edu	37	chr16	24801035	24801035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcaaatggagggttaaatCcaagcactttgaattcagct	8	8	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr16:24801035C>T	uc002dmm.2	+	6	1186	c.1072C>T	c.(1072-1074)CCA>TCA	p.P358S	TNRC6A_uc010bxs.2_Missense_Mutation_p.P105S|TNRC6A_uc010vcc.1_Missense_Mutation_p.P105S|TNRC6A_uc002dmn.2_Missense_Mutation_p.P105S|TNRC6A_uc002dmo.2_Missense_Mutation_p.P105S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	358	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|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			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AGGGTTAAATCCAAGCACTTT	0.453													T	24801035	C	T	24801035	3	4	215	1	0	0	0	0	1	0	0	0	16337	855	30	4	1094	4	TNRC6A	16	24801035	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	4320006	24801035	65553718	141	113244											
C16orf92	146378	broad.mit.edu	37	chr16	30035099	30035099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggacagagtctccgcGcttcttagacagacctgact	11	13	2	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr16:30035099G>A	uc002dvs.2	+	2	203	c.182G>A	c.(181-183)CGC>CAC	p.R61H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.R39H	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN	hypothetical protein LOC146378 isoform 2	61						integral to membrane					0						GAGTCTCCGCGCTTCTTAGAC	0.567													A	30035099	G	A	30035099	3	1	215	1	0	0	0	0	1	0	0	0	1845	1087	38	1	202	1	C16orf92	16	30035099	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	5234064	30035099	60319654	142	113245											
SALL1	6299	broad.mit.edu	37	chr16	51174365	51174365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggagtcacttttgactgAgcctggggggctggtggcag	17	10	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr16:51174365A>G	uc010vgs.1	-	2	1799	c.1768T>C	c.(1768-1770)TCA>CCA	p.S590P	SALL1_uc010vgr.1_Missense_Mutation_p.S493P|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	590					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTTTGACTGAGCCTGGGGGG	0.627													G	51174365	A	G	51174365	3	3	215	1	0	0	0	0	1	0	0	0	13810	304	11	3	2214	3	SALL1	16	51174365	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	21139266	51174365	39180388	143	113246											
ADAMTS18	170692	broad.mit.edu	37	chr16	77325275	77325275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttggtttcttaatattaCggcatcttcgctctgggaaa	9	7	3	0	rs150975249	byFrequency	TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr16:77325275C>T	uc002ffc.3	-	21	3709	c.3290G>A	c.(3289-3291)CGT>CAT	p.R1097H		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1097	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTTAATATTACGGCATCTTCG	0.502													T	77325275	C	T	77325275	3	4	215	1	0	0	0	0	1	0	0	0	263	536	19	1	387	1	ADAMTS18	16	77325275	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	26150910	77325275	13029478	144	113247											
ANKFY1	51479	broad.mit.edu	37	chr17	4086708	4086708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctgacatttatatctGcctggtgctccagcaggaag	9	12	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:4086708G>A	uc002fxq.1	-	14	1975	c.1937C>T	c.(1936-1938)GCA>GTA	p.A646V	ANKFY1_uc002fxn.2_Missense_Mutation_p.A688V|ANKFY1_uc002fxo.2_Missense_Mutation_p.A646V|ANKFY1_uc002fxp.2_Missense_Mutation_p.A645V|ANKFY1_uc010ckp.2_Missense_Mutation_p.A587V	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	646	ANK 9.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						ATTTATATCTGCCTGGTGCTC	0.517													A	4086708	G	A	4086708	3	1	215	1	0	0	0	0	1	0	0	0	626	1319	46	2	1623	2	ANKFY1	17	4086708	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08		4086708	77108502	145	113248											
SOX15	6665	broad.mit.edu	37	chr17	7491725	7491725	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttaggggcatgggggcacCagcaaggggagggttgtatg	21	5	0	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:7491725C>G	uc002ghy.1	-	3	821	c.673G>C	c.(673-675)GGT>CGT	p.G225R	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghz.1_Missense_Mutation_p.G225R	NM_006942	NP_008873	O60248	SOX15_HUMAN	SRY-box 15	225				GA -> VP (in Ref. 7; BAA78784).	chromatin organization|male gonad development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						ATGGGGGCACCAGCAAGGGGA	0.617													G	7491725	C	G	7491725	3	3	215	1	0	0	0	0	1	0	0	0	14946	594	21	5	32	5	SOX15	17	7491725	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	3405017	7491725	73703485	146	113249											
TP53	7157	broad.mit.edu	37	chr17	7577090	7577096	+	Frame_Shift_Del	DEL	CGCCGGT	CGCCGGT	-													ggagattctcttcctctgtgCgccggtctctcccaggacag					rs149633775	byFrequency	TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:7577090_7577096delCGCCGGT	uc002gim.2	-	8	1036_1042	c.842_848delACCGGCG	c.(841-849)GACCGGCGCfs	p.D281fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.D281fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.D149fs|TP53_uc010cng.1_Frame_Shift_Del_p.D149fs|TP53_uc002gii.1_Frame_Shift_Del_p.D149fs|TP53_uc010cnh.1_Frame_Shift_Del_p.D281fs|TP53_uc010cni.1_Frame_Shift_Del_p.D281fs|TP53_uc002gij.2_Frame_Shift_Del_p.D281fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	281_283	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(366)|p.R282G(27)|p.D281E(25)|p.R283P(23)|p.R282Q(21)|p.D281H(19)|p.D281N(18)|p.R283C(17)|p.R282P(14)|p.R283H(12)|p.D281G(10)|p.R282R(8)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.R283L(4)|p.R283fs*62(4)|p.R282L(3)|p.D281V(3)|p.R283G(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.R282fs*24(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.F270_D281del12(1)|p.R282H(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)|p.R280fs*62(1)|p.R283_T284>T(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TTCCTCTGTGCGCCGGTCTCTCCCAGG	0.556		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7577096	CGCCGGT	-	7577090	7	5	215	1	0	1	0	1	0	0	0	0	16378	768	27	0	438	0	TP53	17	7577090	Frame_Shift_Del	DEL	CGCCGGT	TCGA-D7-6818-01A-11D-1882-08	85365	7577090	73618120	147	113250											
PIK3R5	23533	broad.mit.edu	37	chr17	8791715	8791715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgatactggttcgtcCagggggctgcagaggctccc	18	10	0	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:8791715C>T	uc002glt.2	-	10	1456	c.1389G>A	c.(1387-1389)CTG>CTA	p.L463L	PIK3R5_uc010vuz.1_Silent_p.L463L|PIK3R5_uc002glu.3_Silent_p.L77L|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Silent_p.L77L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	463					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CTGGTTCGTCCAGGGGGCTGC	0.711													T	8791715	C	T	8791715	2	4	215	1	0	0	0	0	0	0	0	1	11922	581	21	4		4	PIK3R5	17	8791715	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	1214625	8791715	72403495	148	113251											
NTN1	9423	broad.mit.edu	37	chr17	8926512	8926512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgactcgtacttctaCgcggtgtccgacctgcaggt	13	14	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:8926512C>T	uc002glw.3	+	2	929	c.822C>T	c.(820-822)TAC>TAT	p.Y274Y		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	274	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						CGTACTTCTACGCGGTGTCCG	0.706													T	8926512	C	T	8926512	2	4	215	1	0	0	0	0	0	0	0	1	10700	547	19	1		1	NTN1	17	8926512	Silent	SNP	C	TCGA-D7-6818-01A-11D-1882-08	134797	8926512	72268698	149	113252											
DNAH9	1770	broad.mit.edu	37	chr17	11696975	11696975	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaagtgctcaagaaaacTtttgatgtgagtattgccct	9	7	1	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:11696975T>G	uc002gne.2	+	42	8285	c.8217T>G	c.(8215-8217)ACT>ACG	p.T2739T	DNAH9_uc010coo.2_Silent_p.T2033T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2739					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TCAAGAAAACTTTTGATGTGA	0.313													G	11696975	T	G	11696975	2	3	215	1	0	0	0	0	0	0	0	1	4608	1596	56	5		5	DNAH9	17	11696975	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	2770463	11696975	69498235	150	113253											
NCOR1	9611	broad.mit.edu	37	chr17	16041498	16041498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaagtatgatgcaattaGtccaaagttttttggatgct	8	7	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:16041498G>T	uc002gpo.2	-	13	1621	c.1381C>A	c.(1381-1383)CTA>ATA	p.L461I	NCOR1_uc002gpn.2_Missense_Mutation_p.L461I|NCOR1_uc002gpp.1_Missense_Mutation_p.L352I|NCOR1_uc002gpr.2_Missense_Mutation_p.L352I|NCOR1_uc002gps.1_Missense_Mutation_p.L470I|NCOR1_uc010coz.1_Missense_Mutation_p.L277I|NCOR1_uc010cpb.1_Missense_Mutation_p.L470I|NCOR1_uc010cpa.1_Missense_Mutation_p.L461I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	461	SANT 1.				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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATGCAATTAGTCCAAAGTTT	0.353													T	16041498	G	T	16041498	3	4	215	1	0	0	0	0	1	0	0	0	10235	1020	36	5	6077	5	NCOR1	17	16041498	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	4344523	16041498	65153712	151	113254											
MPRIP	23164	broad.mit.edu	37	chr17	17077319	17077319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcccatctggcccaggCgctggaggccgagcggcagg	17	13	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:17077319C>G	uc002gqu.1	+	18	2575	c.2519C>G	c.(2518-2520)GCG>GGG	p.A840G	MPRIP_uc002gqv.1_Missense_Mutation_p.A840G|MPRIP_uc002gqw.1_Missense_Mutation_p.A595G|MPRIP_uc002gqx.1_Missense_Mutation_p.A1069G|MPRIP_uc002gqy.1_Missense_Mutation_p.A1069G|MPRIP_uc010cpl.1_Missense_Mutation_p.A66G|MPRIP_uc010cpm.1_Missense_Mutation_p.A66G	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	840	Interaction with PPP1R12A.|Potential.					cytoplasm|cytoskeleton	actin binding				0						CTGGCCCAGGCGCTGGAGGCC	0.662													G	17077319	C	G	17077319	3	3	215	1	0	0	0	0	1	0	0	0	9743	768	27	5	2589	5	MPRIP	17	17077319	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	1035821	17077319	64117891	152	113255											
ACOX1	51	broad.mit.edu	37	chr17	73945808	73945808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagctcacctggctgcaCggagtttatatgcttcggtt	13	9	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr17:73945808C>T	uc002jqf.2	-	10	1759	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H	ACOX1_uc010wsq.1_Missense_Mutation_p.R452H|ACOX1_uc002jqe.2_Missense_Mutation_p.R490H|ACOX1_uc010wsr.1_Missense_Mutation_p.R422H	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	490					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			ovary(1)	1						CCTGGCTGCACGGAGTTTATA	0.557													T	73945808	C	T	73945808	3	4	215	1	0	0	0	0	1	0	0	0	158	536	19	1	533	1	ACOX1	17	73945808	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	56868489	73945808	7249402	153	113256											
FAM59A	64762	broad.mit.edu	37	chr18	29867223	29867223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggaagttctgactttcccGggatgcctgctgattcttca	11	10	3	2	rs148857293		TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr18:29867223G>T	uc002kxl.2	-	4	1393	c.1337C>A	c.(1336-1338)CCG>CAG	p.P446Q	FAM59A_uc002kxk.1_Missense_Mutation_p.P446Q	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	446										ovary(1)|skin(1)	2						TGACTTTCCCGGGATGCCTGC	0.542													T	29867223	G	T	29867223	3	4	215	1	0	0	0	0	1	0	0	0	5592	1116	39	5	1302	5	FAM59A	18	29867223	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08		29867223	48210025	154	113257											
LIPG	9388	broad.mit.edu	37	chr18	47101837	47101837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcctccacacctacacgCgttccttcggcttgagcatt	7	15	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr18:47101837C>T	uc002ldv.2	+	5	922	c.670C>T	c.(670-672)CGT>TGT	p.R224C	LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.1_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	224					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						CACCTACACGCGTTCCTTCGG	0.557													T	47101837	C	T	47101837	3	4	215	1	0	0	0	0	1	0	0	0	8823	768	27	1	688	1	LIPG	18	47101837	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	17234614	47101837	30975411	155	113258											
DDX49	54555	broad.mit.edu	37	chr19	19032555	19032555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcatcgtcggtggcaTgggtacgggagctgggaggc	18	9	1	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr19:19032555T>C	uc002nkq.1	+	3	380	c.323T>C	c.(322-324)ATG>ACG	p.M108T	COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.M1T|DDX49_uc002nkt.1_5'Flank	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	108	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			GTCGGTGGCATGGGTACGGGA	0.642													C	19032555	T	C	19032555	3	2	215	1	0	0	0	0	1	0	0	0	4366	1464	51	3	333	3	DDX49	19	19032555	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08		19032555	40096428	156	113259											
ZNF98	148198	broad.mit.edu	37	chr19	22574432	22574432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatgaatcatcttatgTctgttaagaatagaggagtt	9	5	3	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr19:22574432T>C	uc002nqt.2	-	4	1727	c.1605A>G	c.(1603-1605)AGA>AGG	p.R535R		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	535	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCATCTTATGTCTGTTAAGAA	0.363													C	22574432	T	C	22574432	2	2	215	1	0	0	0	0	0	0	0	1	18200	1664	58	3		3	ZNF98	19	22574432	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	3541877	22574432	36554551	157	113260											
ZNF98	148198	broad.mit.edu	37	chr19	22574473	22574473	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttaaaggctttgccgcattCttcacacttgtagggtttct	9	9	3	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr19:22574473C>T	uc002nqt.2	-	4	1686	c.1564G>A	c.(1564-1566)GAA>AAA	p.E522K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	522	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGCCGCATTCTTCACACTTG	0.393													T	22574473	C	T	22574473	3	4	215	1	0	0	0	0	1	0	0	0	18200	922	32	4	158	4	ZNF98	19	22574473	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	41	22574473	36554510	158	113261											
FCGBP	8857	broad.mit.edu	37	chr19	40361014	40361014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaggatccctggcaggtgcGagtgcagatggagtagtggc	17	8	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr19:40361014G>C	uc002omp.3	-	33	15402	c.15394C>G	c.(15394-15396)CGC>GGC	p.R5132G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5132	Cys-rich.|TIL 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			TGGCAGGTGCGAGTGCAGATG	0.637													C	40361014	G	C	40361014	3	2	215	1	0	0	0	0	1	0	0	0	5778	1058	37	5	839	5	FCGBP	19	40361014	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	17786541	40361014	18767969	159	113262											
FCGBP	8857	broad.mit.edu	37	chr19	40382289	40382289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagtactcacgacagaAgtccggccgcctccactcgc	11	16	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr19:40382289A>C	uc002omp.3	-	22	10605	c.10597T>G	c.(10597-10599)TTC>GTC	p.F3533V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	3533						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			TCACGACAGAAGTCCGGCCGC	0.652													C	40382289	A	C	40382289	3	2	215	1	0	0	0	0	1	0	0	0	5778	72	3	5	5680	5	FCGBP	19	40382289	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	21275	40382289	18746694	160	113263											
NLRP9	338321	broad.mit.edu	37	chr19	56243743	56243743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgggtcaagagggttTgaggctgaaccacacttgct	12	11	1	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr19:56243743T>C	uc002qly.2	-	2	1482	c.1454A>G	c.(1453-1455)CAA>CGA	p.Q485R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	485						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAGAGGGTTTGAGGCTGAAC	0.473													C	56243743	T	C	56243743	3	2	215	1	0	0	0	0	1	0	0	0	10484	1812	63	3	1553	3	NLRP9	19	56243743	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	15861454	56243743	2885240	161	113264											
TTLL9	164395	broad.mit.edu	37	chr20	30458971	30458980	+	Frame_Shift_Del	DEL	TGCCATTAGG	TGCCATTAGG	-													ctgctgggaccaggcacaacTgccattaggtgccccaagaa							TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr20:30458970_30458979CTGCCATTAGG>C	uc010gdx.1	+	1	294_303	c.41_50CTGCCATTAGG>C	c.(40-51)actgccattaggfs	p.T14fs	DUSP15_uc002wwu.1_5'Flank|DUSP15_uc002wwv.1_5'Flank|DUSP15_uc002www.1_5'Flank|DUSP15_uc002wwx.1_5'Flank|TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Intron	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	14					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGGCACAACTGCCATTAGGTGCCCCAAG	0.524													-	30458980	TGCCATTAGG	-	30458971	7	5	215	1	0	1	0	1	0	0	0	0	16731	1567	55	0	44	0	TTLL9	20	30458971	Frame_Shift_Del	DEL	TGCCATTAGG	TCGA-D7-6818-01A-11D-1882-08		30458971	32566549	162	113265											
LIPI	149998	broad.mit.edu	37	chr21	15538686	15538686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatactgtcagtatacctgAgaaaattgatttaggacagc	8	6	1	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr21:15538686A>G	uc002yjm.2	-	5	803	c.793T>C	c.(793-795)TCA>CCA	p.S265P	LIPI_uc010gkw.1_Intron	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	244					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AGTATACCTGAGAAAATTGAT	0.348													G	15538686	A	G	15538686	3	3	215	1	0	0	0	0	1	0	0	0	8825	304	11	3	676	3	LIPI	21	15538686	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08		15538686	32591209	163	113266											
BRWD1	54014	broad.mit.edu	37	chr21	40608669	40608669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggctgcaaattgatgCccgcatcagctgtccaatcg	11	11	1	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chr21:40608669C>T	uc002yxk.1	-	23	2757	c.2618G>A	c.(2617-2619)GGC>GAC	p.G873D	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.G873D|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.G326D|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.G549D	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAAATTGATGCCCGCATCAGC	0.403													T	40608669	C	T	40608669	3	4	215	1	0	0	0	0	1	0	0	0	1525	739	26	2	4663	2	BRWD1	21	40608669	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08	25069983	40608669	7521226	164	113267											
TLR8	51311	broad.mit.edu	37	chrX	12940244	12940244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgactgaaaatgattcaCggtataacaatatgtatgtc	7	6	2	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:12940244C>T	uc004cve.2	+	2	3153	c.3085C>T	c.(3085-3087)CGG>TGG	p.R1029W	TLR8_uc004cvd.2_Missense_Mutation_p.R1047W	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	1029	Cytoplasmic (Potential).				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			ovary(4)|lung(2)|large_intestine(1)	7						AAATGATTCACGGTATAACAA	0.403													T	12940244	C	T	12940244	3	4	215	1	0	0	0	0	1	0	0	0	15954	527	19	1	3091	1	TLR8	23	12940244	Missense_Mutation	SNP	C	TCGA-D7-6818-01A-11D-1882-08		12940244	142330316	165	113268											
MAGEB6	158809	broad.mit.edu	37	chrX	26212865	26212865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcatgaacggcaactGtgccactgaagaggaggtct	12	9	3	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:26212865G>A	uc004dbr.2	+	2	1051	c.902G>A	c.(901-903)TGT>TAT	p.C301Y	MAGEB6_uc010ngc.1_Missense_Mutation_p.C81Y	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	301	MAGE.									ovary(3)	3						AACGGCAACTGTGCCACTGAA	0.517													A	26212865	G	A	26212865	3	1	215	1	0	0	0	0	1	0	0	0	9179	1377	48	4	904	4	MAGEB6	23	26212865	Missense_Mutation	SNP	G	TCGA-D7-6818-01A-11D-1882-08	13272621	26212865	129057695	166	113269											
DMD	1756	broad.mit.edu	37	chrX	32430014	32430014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctctgttcaagcaacTtttgcctccttacagcctaa	7	12	2	0			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:32430014T>G	uc004dda.1	-	30	4332	c.4088A>C	c.(4087-4089)AAG>ACG	p.K1363T	DMD_uc004dcw.2_Missense_Mutation_p.K19T|DMD_uc004dcx.2_Missense_Mutation_p.K22T|DMD_uc004dcz.2_Missense_Mutation_p.K1240T|DMD_uc004dcy.1_Missense_Mutation_p.K1359T|DMD_uc004ddb.1_Missense_Mutation_p.K1355T|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1363	Spectrin 9.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TTCAAGCAACTTTTGCCTCCT	0.393													G	32430014	T	G	32430014	3	3	215	1	0	0	0	0	1	0	0	0	4580	1609	56	5	7317	5	DMD	23	32430014	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	6217149	32430014	122840546	167	113270											
NRK	203447	broad.mit.edu	37	chrX	105132295	105132295	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttattccataggatgaggaAgaggatctcaggactgaact	11	7	1	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:105132295A>C	uc004emd.2	+	5	564	c.261A>C	c.(259-261)GAA>GAC	p.E87D	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	87	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						AGGATGAGGAAGAGGATCTCA	0.413										HNSCC(51;0.14)			C	105132295	A	C	105132295	3	2	215	1	0	0	0	0	1	0	0	0	10655	69	3	5	279	5	NRK	23	105132295	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	72702281	105132295	50138265	168	113271											
NRK	203447	broad.mit.edu	37	chrX	105189886	105189886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcattgatcaatcagcagActctgaaggagactacatgt	9	8	3	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:105189886A>G	uc004emd.2	+	25	4385	c.4082A>G	c.(4081-4083)GAC>GGC	p.D1361G	NRK_uc011msi.1_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1361	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						CAATCAGCAGACTCTGAAGGA	0.438										HNSCC(51;0.14)			G	105189886	A	G	105189886	3	3	215	1	0	0	0	0	1	0	0	0	10655	275	10	3	4180	3	NRK	23	105189886	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	57591	105189886	50080674	169	113272											
TBC1D8B	54885	broad.mit.edu	37	chrX	106110054	106110054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatggaagttttactgAgaagcttaagctgcttttta	9	5	0	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:106110054A>G	uc004emo.2	+	17	2855	c.2690A>G	c.(2689-2691)GAG>GGG	p.E897G	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	897						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGTTTTACTGAGAAGCTTAAG	0.299													G	106110054	A	G	106110054	3	3	215	1	0	0	0	0	1	0	0	0	15623	304	11	3	2822	3	TBC1D8B	23	106110054	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	920168	106110054	49160506	170	113273											
RGAG1	57529	broad.mit.edu	37	chrX	109695009	109695009	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaatgatgtctaatccGccagtgagagcaacagcctc	9	11	2	3			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:109695009G>T	uc004eor.1	+	3	1410	c.1164G>T	c.(1162-1164)CCG>CCT	p.P388P	RGAG1_uc011msr.1_Silent_p.P388P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	388										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGTCTAATCCGCCAGTGAGAG	0.552													T	109695009	G	T	109695009	2	4	215	1	0	0	0	0	0	0	0	1	13274	1074	38	5		5	RGAG1	23	109695009	Silent	SNP	G	TCGA-D7-6818-01A-11D-1882-08	3584955	109695009	45575551	171	113274											
CDR1	1038	broad.mit.edu	37	chrX	139866175	139866175	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagaaaatccttgtcTtcccttaaatctatagcttc	3	12	3	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:139866175T>G	uc004fbg.1	-	1	549	c.357A>C	c.(355-357)GAA>GAC	p.E119D	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	119	23 X 6 AA approximate repeats.|20.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AATCCTTGTCTTCCCTTAAAT	0.443													G	139866175	T	G	139866175	3	3	215	1	0	0	0	0	1	0	0	0	3171	1606	56	5	435	5	CDR1	23	139866175	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	30171166	139866175	15404385	172	113275											
MAGEC1	9947	broad.mit.edu	37	chrX	140995251	140995251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctcctgagggggaggaTtccctgtctcctctccaaat	11	12	2	1			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:140995251T>G	uc004fbt.2	+	4	2347	c.2061T>G	c.(2059-2061)GAT>GAG	p.D687E	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	687							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGGAGGATTCCCTGTCTC	0.577										HNSCC(15;0.026)			G	140995251	T	G	140995251	3	3	215	1	0	0	0	0	1	0	0	0	9180	1490	52	5	2067	5	MAGEC1	23	140995251	Missense_Mutation	SNP	T	TCGA-D7-6818-01A-11D-1882-08	1129076	140995251	14275309	173	113276											
MAGEC2	51438	broad.mit.edu	37	chrX	141290853	141290853	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcttcttgatgctttcTgaatgggctctcggacccca	8	12	4	2			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:141290853T>C	uc004fbu.1	-	3	1269	c.921A>G	c.(919-921)TCA>TCG	p.S307S		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	307	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGATGCTTTCTGAATGGGCTC	0.463										HNSCC(46;0.14)			C	141290853	T	C	141290853	2	2	215	1	0	0	0	0	0	0	0	1	9181	1567	55	3		3	MAGEC2	23	141290853	Silent	SNP	T	TCGA-D7-6818-01A-11D-1882-08	295602	141290853	13979707	174	113277											
MAGEA11	4110	broad.mit.edu	37	chrX	148797474	148797474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacctaaccagagtcAtcatgcctcttgagcaaaga	8	12	3	4			TCGA-D7-6818-01A-11D-1882-08	TCGA-D7-6818-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03c9ac9e-ffb4-4fbc-bdf1-e4aee1ebf4e4	e43a8401-dcc9-4189-ba15-228d8e9d0875	g.chrX:148797474A>G	uc004fdq.2	+	5	430	c.328A>G	c.(328-330)ATC>GTC	p.I110V	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.I81V	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	110						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACCAGAGTCATCATGCCTCT	0.577													G	148797474	A	G	148797474	3	3	215	1	0	0	0	0	1	0	0	0	9165	217	8	3	355	3	MAGEA11	23	148797474	Missense_Mutation	SNP	A	TCGA-D7-6818-01A-11D-1882-08	7506621	148797474	6473086	175	113278											
AMY2B	280	broad.mit.edu	37	chr1	104118115	104118115	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccttatggttttacaCgagtaatgtcaagctaccgt	7	10	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:104118115C>T	uc001duq.2	+	9	1670	c.1054C>T	c.(1054-1056)CGA>TGA	p.R352*	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Nonsense_Mutation_p.R352*|AMY2B_uc001dus.1_RNA	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	352		Chloride (By similarity).			carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		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)		TGGTTTTACACGAGTAATGTC	0.338													T	104118115	C	T	104118115	4	4	216	1	0	0	0	0	0	1	0	0	595	528	19	1	1080	1	AMY2B	1	104118115	Nonsense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08		104118115	145132506	1	113279											
ATP1A1	476	broad.mit.edu	37	chr1	116941382	116941382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcttctggatgacaactTtgcctcaattgtgactggag	10	8	3	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:116941382T>G	uc001ege.2	+	16	2603	c.2264T>G	c.(2263-2265)TTT>TGT	p.F755C	ATP1A1_uc010owv.1_Missense_Mutation_p.F724C|ATP1A1_uc010oww.1_Missense_Mutation_p.F755C|ATP1A1_uc010owx.1_Missense_Mutation_p.F724C|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	755	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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)	GATGACAACTTTGCCTCAATT	0.443													G	116941382	T	G	116941382	3	3	216	1	0	0	0	0	1	0	0	0	1128	1841	64	5	2342	5	ATP1A1	1	116941382	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	12823267	116941382	132309239	2	113280											
HRNR	388697	broad.mit.edu	37	chr1	152188153	152188153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaagccagaagagtgaccGgagccagactcatatgggcc	12	12	1	4			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:152188153G>A	uc001ezt.1	-	3	6028	c.5952C>T	c.(5950-5952)TCC>TCT	p.S1984S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1984	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCGGAGCCAGACT	0.592													A	152188153	G	A	152188153	2	1	216	1	0	0	0	0	0	0	0	1	7359	1103	39	1		1	HRNR	1	152188153	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	35246771	152188153	97062468	3	113281											
HRNR	388697	broad.mit.edu	37	chr1	152190998	152190998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagactcatatgggccacggCttgaagaccaccctgagcca	10	14	1	4			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:152190998C>T	uc001ezt.1	-	3	3183	c.3107G>A	c.(3106-3108)AGC>AAC	p.S1036N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1036	12.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCACGGCTTGAAGACCA	0.592													T	152190998	C	T	152190998	3	4	216	1	0	0	0	0	1	0	0	0	7359	797	28	2	5449	2	HRNR	1	152190998	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	2845	152190998	97059623	4	113282											
FLG	2312	broad.mit.edu	37	chr1	152285533	152285533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcctacttgtcctgggcCccgatgattgtccctggccc	11	15	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:152285533C>T	uc001ezu.1	-	3	1865	c.1829G>A	c.(1828-1830)GGG>GAG	p.G610E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	610	Filaggrin 3.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGGGCCCCGATGATTG	0.572									Ichthyosis				T	152285533	C	T	152285533	3	4	216	1	0	0	0	0	1	0	0	0	5922	623	22	4	10360	4	FLG	1	152285533	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	94535	152285533	96965088	5	113283											
LCE2D	353141	broad.mit.edu	37	chr1	152636662	152636662	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accccaaaatgtccacctaaGtgtccccccaaatgcccacc	4	19	0	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:152636662G>C	uc001fag.2	+	2	136	c.81G>C	c.(79-81)AAG>AAC	p.K27N		NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	27	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACCTAAGTGTCCCCCCA	0.582													C	152636662	G	C	152636662	3	2	216	1	0	0	0	0	1	0	0	0	8668	1020	36	5	83	5	LCE2D	1	152636662	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	351129	152636662	96613959	6	113284											
NHLH1	4807	broad.mit.edu	37	chr1	160340766	160340766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccgcacggcccacgccaCgcgagaacgcatccgcgtgg	13	17	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:160340766C>T	uc001fwa.2	+	2	687	c.245C>T	c.(244-246)ACG>ATG	p.T82M		NM_005598	NP_005589	Q02575	HEN1_HUMAN	nescient helix loop helix 1	82	Basic motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCACGCCACGCGAGAACGC	0.582													T	160340766	C	T	160340766	3	4	216	1	0	0	0	0	1	0	0	0	10403	536	19	1	247	1	NHLH1	1	160340766	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	7704104	160340766	88909855	7	113285											
PAPPA2	60676	broad.mit.edu	37	chr1	176709162	176709162	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatccactgattatcaatgtGacccatcaccagaatgtcct	5	12	2	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:176709162G>C	uc001gkz.2	+	14	5145	c.3981G>C	c.(3979-3981)GTG>GTC	p.V1327V	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1327					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TTATCAATGTGACCCATCACC	0.458													C	176709162	G	C	176709162	2	2	216	1	0	0	0	0	0	0	0	1	11433	1277	45	5		5	PAPPA2	1	176709162	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	16368396	176709162	72541459	8	113286											
F13B	2165	broad.mit.edu	37	chr1	197021789	197021789	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctagtacataaaggatatttCacttctcctctgttgcactg	6	10	3	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:197021789C>A	uc001gtt.1	-	9	1574	c.1530G>T	c.(1528-1530)GTG>GTT	p.V510V		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	510	Sushi 8.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAGGATATTTCACTTCTCCTC	0.323													A	197021789	C	A	197021789	2	1	216	1	0	0	0	0	0	0	0	1	5341	813	29	5		5	F13B	1	197021789	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08	20312627	197021789	52228832	9	113287											
ADORA1	134	broad.mit.edu	37	chr1	203134527	203134527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcctgggcagccaacggCagcatgggggagcccgtgat	18	12	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:203134527C>T	uc001gze.1	+	4	913	c.480C>T	c.(478-480)GGC>GGT	p.G160G	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Silent_p.G160G|ADORA1_uc010pqg.1_Silent_p.G92G|ADORA1_uc009xak.1_Nonsense_Mutation_p.Q86*|ADORA1_uc010pqh.1_Silent_p.G193G	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	160	Extracellular (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAGCCAACGGCAGCATGGGGG	0.592													T	203134527	C	T	203134527	2	4	216	1	0	0	0	0	0	0	0	1	326	697	25	2		2	ADORA1	1	203134527	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08	6112738	203134527	46116094	10	113288											
SIPA1L2	57568	broad.mit.edu	37	chr1	232600638	232600638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcacagttgtctaccgagGacaggaggacacattctcct	10	12	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr1:232600638G>A	uc001hvg.2	-	7	2926	c.2768C>T	c.(2767-2769)TCC>TTC	p.S923F	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	923					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTCTACCGAGGACAGGAGGAC	0.413													A	232600638	G	A	232600638	3	1	216	1	0	0	0	0	1	0	0	0	14330	1174	41	4	2460	4	SIPA1L2	1	232600638	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	29466111	232600638	16649983	11	113289											
DTNB	1838	broad.mit.edu	37	chr2	25656795	25656795	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgtttttgttttccaGttctgcaataagctgtcttt	6	8	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:25656795G>C	uc002rgh.2	-	13	1577	c.1327C>G	c.(1327-1329)CTG>GTG	p.L443V	DTNB_uc002rgg.2_Missense_Mutation_p.L72V|DTNB_uc010yko.1_Missense_Mutation_p.L386V|DTNB_uc010ykp.1_Missense_Mutation_p.L239V|DTNB_uc002rgo.2_Missense_Mutation_p.L234V|DTNB_uc002rgi.2_Missense_Mutation_p.L443V|DTNB_uc002rgj.2_Missense_Mutation_p.L443V|DTNB_uc002rgk.2_Missense_Mutation_p.L413V|DTNB_uc002rgl.2_Missense_Mutation_p.L413V|DTNB_uc002rgq.2_Missense_Mutation_p.L443V|DTNB_uc002rgm.2_Missense_Mutation_p.L413V|DTNB_uc002rgn.2_Missense_Mutation_p.L239V|DTNB_uc002rgr.1_Missense_Mutation_p.L432V|DTNB_uc010ykq.1_Missense_Mutation_p.L296V	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	443	Potential.|Syntrophin-binding region.					cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTTTCCAGTTCTGCAATA	0.438													C	25656795	G	C	25656795	3	2	216	1	0	0	0	0	1	0	0	0	4789	1020	36	5	588	5	DTNB	2	25656795	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08		25656795	217542578	12	113290											
ASXL2	55252	broad.mit.edu	37	chr2	25966067	25966067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgtgtcaatgctggAgtccctcagctccttagctg	12	10	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:25966067A>C	uc002rgs.2	-	12	3360	c.3139T>G	c.(3139-3141)TCC>GCC	p.S1047A	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAATGCTGGAGTCCCTCAGC	0.517													C	25966067	A	C	25966067	3	2	216	1	0	0	0	0	1	0	0	0	1067	304	11	5	1172	5	ASXL2	2	25966067	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	309272	25966067	217233306	13	113291											
ZNF512	84450	broad.mit.edu	37	chr2	27838091	27838091	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggaagtactacataaatgGaagacagatatcaagaaata	8	5	1	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:27838091G>A	uc002rla.2	+	11	1275	c.1188G>A	c.(1186-1188)TGG>TGA	p.W396*	ZNF512_uc010ylv.1_Nonsense_Mutation_p.W317*|ZNF512_uc010ylw.1_Nonsense_Mutation_p.W367*|ZNF512_uc002rlb.2_Nonsense_Mutation_p.W317*|ZNF512_uc010ylx.1_Nonsense_Mutation_p.W317*|ZNF512_uc002rlc.2_Nonsense_Mutation_p.W317*|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Nonsense_Mutation_p.W289*	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TACATAAATGGAAGACAGATA	0.318													A	27838091	G	A	27838091	4	1	216	1	0	0	0	0	0	1	0	0	17953	1183	41	4	1230	4	ZNF512	2	27838091	Nonsense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	1872024	27838091	215361282	14	113292											
CEBPZ	10153	broad.mit.edu	37	chr2	37455880	37455880	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttcggtgtggtactgccAttctcatcagaatgtggttc	10	9	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:37455880A>G	uc002rpz.2	-	2	486	c.456T>C	c.(454-456)AAT>AAC	p.N152N	C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	152					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TGGTACTGCCATTCTCATCAG	0.338													G	37455880	A	G	37455880	2	3	216	1	0	0	0	0	0	0	0	1	3204	214	8	3		3	CEBPZ	2	37455880	Silent	SNP	A	TCGA-D7-6820-01A-11D-1882-08	9617789	37455880	205743493	15	113293											
IMMT	10989	broad.mit.edu	37	chr2	86378626	86378626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgagggagttcagatcatCagtagagagcttgtcagcta	12	6	4	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:86378626C>T	uc002sqz.3	-	12	1583	c.1195G>A	c.(1195-1197)GAT>AAT	p.D399N	IMMT_uc002sqy.3_Missense_Mutation_p.D140N|IMMT_uc002srb.3_Missense_Mutation_p.D388N|IMMT_uc002sra.3_Missense_Mutation_p.D398N|IMMT_uc010ytd.1_Missense_Mutation_p.D387N|IMMT_uc010yte.1_Missense_Mutation_p.D352N|IMMT_uc002src.1_Missense_Mutation_p.D135N	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	399	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						TTCAGATCATCAGTAGAGAGC	0.408													T	86378626	C	T	86378626	3	4	216	1	0	0	0	0	1	0	0	0	7718	826	29	4	1097	4	IMMT	2	86378626	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	48922746	86378626	156820747	16	113294											
CCDC74A	90557	broad.mit.edu	37	chr2	132285734	132285734	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcctgcagcagcagcActcggagatgctggccaagc	13	13	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:132285734A>C	uc002tta.2	+	1	243	c.191A>C	c.(190-192)CAC>CCC	p.H64P	CCDC74A_uc010fnb.1_Missense_Mutation_p.H64P|CCDC74A_uc002ttb.2_Missense_Mutation_p.H64P	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	64	Potential.									skin(1)	1						CAGCAGCAGCACTCGGAGATG	0.652													C	132285734	A	C	132285734	3	2	216	1	0	0	0	0	1	0	0	0	2847	159	6	5	193	5	CCDC74A	2	132285734	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	45907108	132285734	110913639	17	113295											
ZAK	51776	broad.mit.edu	37	chr2	174047608	174047608	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttctctgggatcactctatGattacattaacagtaacaga	6	9	3	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:174047608G>A	uc002uhz.2	+	4	474	c.274G>A	c.(274-276)GAT>AAT	p.D92N	ZAK_uc002uhx.2_Missense_Mutation_p.D92N|ZAK_uc002uhy.2_Missense_Mutation_p.D92N|ZAK_uc010zei.1_5'UTR|ZAK_uc002uia.1_Missense_Mutation_p.D92N	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	92	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			ATCACTCTATGATTACATTAA	0.299													A	174047608	G	A	174047608	3	1	216	1	0	0	0	0	1	0	0	0	17509	1290	45	4	284	4	ZAK	2	174047608	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	41761874	174047608	69151765	18	113296											
TFPI	7035	broad.mit.edu	37	chr2	188348868	188348868	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccaaaaaggctgggaaccTtggttgattgcggagtcagg	14	7	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:188348868T>A	uc002upx.2	-	6	644	c.611A>T	c.(610-612)AAG>ATG	p.K204M	TFPI_uc002upy.2_Missense_Mutation_p.K204M|TFPI_uc002upz.2_Missense_Mutation_p.K200M|TFPI_uc002uqa.2_Missense_Mutation_p.K204M|TFPI_uc002uqb.2_Missense_Mutation_p.K204M	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	204					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GCTGGGAACCTTGGTTGATTG	0.388													A	188348868	T	A	188348868	3	1	216	1	0	0	0	0	1	0	0	0	15805	1609	56	5	447	5	TFPI	2	188348868	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	14301260	188348868	54850505	19	113297											
DNAH7	56171	broad.mit.edu	37	chr2	196729058	196729058	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggttttatcccgctggcgatCtaactgacgcatcttatcac	8	12	3	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:196729058C>G	uc002utj.3	-	41	7422	c.7321G>C	c.(7321-7323)GAT>CAT	p.D2441H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2441	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CGCTGGCGATCTAACTGACGC	0.443													G	196729058	C	G	196729058	3	3	216	1	0	0	0	0	1	0	0	0	4606	913	32	5	4853	5	DNAH7	2	196729058	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	8380190	196729058	46470315	20	113298											
ERBB4	2066	broad.mit.edu	37	chr2	212288966	212288966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaataaatcagggatttctCgcgttggaattccatcatag	8	8	3	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:212288966C>T	uc002veg.1	-	23	2878	c.2780G>A	c.(2779-2781)CGA>CAA	p.R927Q	ERBB4_uc002veh.1_Missense_Mutation_p.R927Q|ERBB4_uc010zji.1_Missense_Mutation_p.R917Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R917Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	927	Protein kinase.|Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		AGGGATTTCTCGCGTTGGAAT	0.383										TSP Lung(8;0.080)			T	212288966	C	T	212288966	3	4	216	1	0	0	0	0	1	0	0	0	5209	884	31	1	1170	1	ERBB4	2	212288966	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	15559908	212288966	30910407	21	113299											
COL6A3	1293	broad.mit.edu	37	chr2	238280910	238280910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctatgagggtgcgaacGtactggaactcaggcccggc	13	12	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr2:238280910G>A	uc002vwl.2	-	9	4035	c.3750C>T	c.(3748-3750)TAC>TAT	p.Y1250Y	COL6A3_uc002vwo.2_Silent_p.Y1044Y|COL6A3_uc010znj.1_Silent_p.Y643Y|COL6A3_uc002vwq.2_Silent_p.Y1044Y|COL6A3_uc002vwr.2_Silent_p.Y843Y	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1250	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		GGGTGCGAACGTACTGGAACT	0.572													A	238280910	G	A	238280910	2	1	216	1	0	0	0	0	0	0	0	1	3701	1140	40	1		1	COL6A3	2	238280910	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	25991944	238280910	4918463	22	113300											
SRGAP3	9901	broad.mit.edu	37	chr3	9100112	9100112	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattcagctgagagataggtCcggaaggtgcgggccaggct	16	8	1	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:9100112C>T	uc003brf.1	-	7	1522	c.846G>A	c.(844-846)CGG>CGA	p.R282R	SRGAP3_uc003brg.1_Silent_p.R282R|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Silent_p.R142R	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	282					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGAGATAGGTCCGGAAGGTGC	0.572			T	RAF1	pilocytic astrocytoma								T	9100112	C	T	9100112	2	4	216	1	0	0	0	0	0	0	0	1	15146	842	30	4		4	SRGAP3	3	9100112	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08		9100112	188922318	23	113301											
THRB	7068	broad.mit.edu	37	chr3	24164613	24164613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacaggcaagccccgggCgatctgcggggaagagagaa	15	11	1	2	rs121918708		TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:24164613C>T	uc003ccx.3	-	11	1497	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	THRB_uc010hfe.2_Missense_Mutation_p.R383H|THRB_uc003ccy.3_Missense_Mutation_p.R383H|THRB_uc003ccz.3_Missense_Mutation_p.R378H	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	383	Ligand-binding.|Interaction with NR2F6.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	AAGCCCCGGGCGATCTGCGGG	0.498													T	24164613	C	T	24164613	3	4	216	1	0	0	0	0	1	0	0	0	15872	768	27	1	241	1	THRB	3	24164613	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	15064501	24164613	173857817	24	113302											
SUSD5	26032	broad.mit.edu	37	chr3	33195166	33195166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accactgtggttgtctccagCagaaaactgctttttggtgt	10	9	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:33195166C>A	uc003cfo.1	-	5	1376	c.958G>T	c.(958-960)GCT>TCT	p.A320S		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	320	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						TTGTCTCCAGCAGAAAACTGC	0.517													A	33195166	C	A	33195166	3	1	216	1	0	0	0	0	1	0	0	0	15408	710	25	5	935	5	SUSD5	3	33195166	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	9030553	33195166	164827264	25	113303											
KLHL18	23276	broad.mit.edu	37	chr3	47364083	47364083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaggctctgatcaactttGcctacaacggcaaccttgcc	9	13	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:47364083G>T	uc003crd.2	+	3	412	c.286G>T	c.(286-288)GCC>TCC	p.A96S	KLHL18_uc003crc.2_Missense_Mutation_p.A96S|KLHL18_uc011bav.1_5'UTR	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	96	BTB.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GATCAACTTTGCCTACAACGG	0.557													T	47364083	G	T	47364083	3	4	216	1	0	0	0	0	1	0	0	0	8373	1319	46	5	296	5	KLHL18	3	47364083	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	14168917	47364083	150658347	26	113304											
CADPS	8618	broad.mit.edu	37	chr3	62459960	62459960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatctgttgatcgactgGttttttgcagcttaacttca	8	7	2	1	rs151301388		TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:62459960G>T	uc003dll.2	-	24	3725	c.3365C>A	c.(3364-3366)ACC>AAC	p.T1122N	CADPS_uc003dlj.1_Missense_Mutation_p.T72N|CADPS_uc003dlk.1_Missense_Mutation_p.T570N|CADPS_uc003dlm.2_Missense_Mutation_p.T1083N|CADPS_uc003dln.2_Missense_Mutation_p.T1043N	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1122	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		TGATCGACTGGTTTTTTGCAG	0.393													T	62459960	G	T	62459960	3	4	216	1	0	0	0	0	1	0	0	0	2570	1261	44	5	724	5	CADPS	3	62459960	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	15095877	62459960	135562470	27	113305											
ROBO1	6091	broad.mit.edu	37	chr3	78656095	78656095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcatccatagaagggAgttttggcaccactacaggt	10	9	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:78656095A>G	uc003dqe.2	-	29	4740	c.4532T>C	c.(4531-4533)CTC>CCC	p.L1511P	ROBO1_uc003dqb.2_Missense_Mutation_p.L1472P|ROBO1_uc003dqc.2_Missense_Mutation_p.L1411P|ROBO1_uc003dqd.2_Missense_Mutation_p.L1466P|ROBO1_uc010hoh.2_Missense_Mutation_p.L703P|ROBO1_uc011bgl.1_Missense_Mutation_p.L1083P	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1511	Cytoplasmic (Potential).				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			large_intestine(2)	2		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)		CATAGAAGGGAGTTTTGGCAC	0.488													G	78656095	A	G	78656095	3	3	216	1	0	0	0	0	1	0	0	0	13513	304	11	3	435	3	ROBO1	3	78656095	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	16196135	78656095	119366335	28	113306											
EPHA3	2042	broad.mit.edu	37	chr3	89390956	89390956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatataaacgagacctcagTtatcctggactggagttggc	10	8	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:89390956T>C	uc003dqy.2	+	5	1247	c.1022T>C	c.(1021-1023)GTT>GCT	p.V341A	EPHA3_uc003dqx.1_Missense_Mutation_p.V341A|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	341	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		GAGACCTCAGTTATCCTGGAC	0.413										TSP Lung(6;0.00050)			C	89390956	T	C	89390956	3	2	216	1	0	0	0	0	1	0	0	0	5168	1725	60	3	1040	3	EPHA3	3	89390956	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	10734861	89390956	108631474	29	113307											
FILIP1L	11259	broad.mit.edu	37	chr3	99569912	99569912	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcaattagcttctttAatctgaaaaatgtaaagtgc	6	6	3	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:99569912A>T	uc003dtm.2	-	5	1071	c.608T>A	c.(607-609)TTA>TAA	p.L203*	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Nonsense_Mutation_p.L203*|FILIP1L_uc010hpf.2_5'UTR|FILIP1L_uc010hpg.2_5'UTR|FILIP1L_uc003dtn.2_5'UTR|FILIP1L_uc003dtp.1_5'UTR	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	203	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TAGCTTCTTTAATCTGAAAAA	0.328													T	99569912	A	T	99569912	4	4	216	1	0	0	0	0	0	1	0	0	5895	372	13	5	2828	5	FILIP1L	3	99569912	Nonsense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	10178956	99569912	98452518	30	113308											
SLC7A14	57709	broad.mit.edu	37	chr3	170244454	170244454	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcgacggctgcaatgatgAaggacacaatgacaccaggt	12	9	0	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:170244454A>T	uc003fgz.2	-	2	588	c.272T>A	c.(271-273)TTC>TAC	p.F91Y	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	91	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			TGCAATGATGAAGGACACAAT	0.532													T	170244454	A	T	170244454	3	4	216	1	0	0	0	0	1	0	0	0	14696	246	9	5	2071	5	SLC7A14	3	170244454	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	70674542	170244454	27777976	31	113309											
ATP11B	23200	broad.mit.edu	37	chr3	182587059	182587059	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggagctgagtcatcaattctCcctaaatgtataggtggaga	11	7	3	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr3:182587059C>G	uc003flb.2	+	17	2063	c.1806C>G	c.(1804-1806)CTC>CTG	p.L602L	ATP11B_uc003flc.2_Silent_p.L186L	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	602	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3	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)			CATCAATTCTCCCTAAATGTA	0.284													G	182587059	C	G	182587059	2	3	216	1	0	0	0	0	0	0	0	1	1120	842	30	5		5	ATP11B	3	182587059	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08	12342605	182587059	15435371	32	113310											
WDFY3	23001	broad.mit.edu	37	chr4	85674913	85674913	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaatgcacacaggaagtcAgggctcatccacatggaggc	12	11	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr4:85674913A>G	uc003hpd.2	-	35	6084	c.5676T>C	c.(5674-5676)CCT>CCC	p.P1892P		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1892						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAGGAAGTCAGGGCTCATCC	0.488													G	85674913	A	G	85674913	2	3	216	1	0	0	0	0	0	0	0	1	17267	175	7	3		3	WDFY3	4	85674913	Silent	SNP	A	TCGA-D7-6820-01A-11D-1882-08		85674913	105479363	33	113311											
KIAA1430	57587	broad.mit.edu	37	chr4	186097014	186097014	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atataactttgggggatgatCagccgatctaggaattgtac	11	6	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr4:186097014C>T	uc003ixf.3	-	3	1393	c.1246G>A	c.(1246-1248)GAT>AAT	p.D416N	KIAA1430_uc003ixg.2_Missense_Mutation_p.D416N	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	416	Potential.										0		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)		GGGGGATGATCAGCCGATCTA	0.423													T	186097014	C	T	186097014	3	4	216	1	0	0	0	0	1	0	0	0	8232	826	29	4	364	4	KIAA1430	4	186097014	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	100422101	186097014	5057262	34	113312											
KIF2A	3796	broad.mit.edu	37	chr5	61659532	61659532	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacattgtagaacatccggtCaaacatctgcaaatgcacat	6	11	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr5:61659532C>G	uc003jsy.3	+	14	1584	c.1273C>G	c.(1273-1275)CAA>GAA	p.Q425E	KIF2A_uc003jsz.3_Missense_Mutation_p.Q425E|KIF2A_uc010iwp.2_Missense_Mutation_p.Q406E|KIF2A_uc003jsx.3_Missense_Mutation_p.Q405E|KIF2A_uc010iwq.2_Missense_Mutation_p.Q228E	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	425	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AACATCCGGTCAAACATCTGC	0.333													G	61659532	C	G	61659532	3	3	216	1	0	0	0	0	1	0	0	0	8297	827	29	5	1327	5	KIF2A	5	61659532	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08		61659532	119255728	35	113313											
PCDHA11	56138	broad.mit.edu	37	chr5	140250587	140250587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgagataagcacaacGcgtgccctggacgaggcaga	15	11	0	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr5:140250587G>A	uc003lia.2	+	1	2757	c.1899G>A	c.(1897-1899)ACG>ACA	p.T633T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.T633T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	633	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCACAACGCGTGCCCTGG	0.662													A	140250587	G	A	140250587	2	1	216	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA11	5	140250587	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	78591055	140250587	40664673	36	113314											
PCDHB14	56122	broad.mit.edu	37	chr5	140603470	140603470	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacataaatgatcactccccTacatttctagacaaggaaat	5	10	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr5:140603470T>G	uc003ljb.2	+	1	393	c.393T>G	c.(391-393)CCT>CCG	p.P131P	PCDHB14_uc011dal.1_Intron	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	131	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCACTCCCCTACATTTCTAG	0.418													G	140603470	T	G	140603470	2	3	216	1	0	0	0	0	0	0	0	1	11539	1509	53	5		5	PCDHB14	5	140603470	Silent	SNP	T	TCGA-D7-6820-01A-11D-1882-08	352883	140603470	40311790	37	113315											
WWC1	23286	broad.mit.edu	37	chr5	167858361	167858361	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttcaatgaggtgttctGggtatccatgtcctatccag	11	8	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr5:167858361G>A	uc003lzu.2	+	15	2285	c.2192G>A	c.(2191-2193)TGG>TAG	p.W731*	WWC1_uc003lzv.2_Nonsense_Mutation_p.W731*|WWC1_uc011den.1_Nonsense_Mutation_p.W731*|WWC1_uc003lzw.2_Nonsense_Mutation_p.W530*|WWC1_uc010jjf.1_5'UTR	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	731	C2.				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			ovary(2)|skin(2)|breast(1)	5	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)		GAGGTGTTCTGGGTATCCATG	0.562													A	167858361	G	A	167858361	4	1	216	1	0	0	0	0	0	1	0	0	17408	1357	47	4	2250	4	WWC1	5	167858361	Nonsense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	27254891	167858361	13056899	38	113316											
CAGE1	285782	broad.mit.edu	37	chr6	7373546	7373546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctagatttcagtttctgTctttcttccaggttttcctt	6	9	5	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr6:7373546T>G	uc003mxi.2	-	4	1819	c.1098A>C	c.(1096-1098)AGA>AGC	p.R366S	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.R257S|CAGE1_uc003mxk.1_Missense_Mutation_p.R257S	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	502	Potential.										0	Ovarian(93;0.0418)					TCAGTTTCTGTCTTTCTTCCA	0.363													G	7373546	T	G	7373546	3	3	216	1	0	0	0	0	1	0	0	0	2572	1664	58	5	1159	5	CAGE1	6	7373546	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08		7373546	163741521	39	113317											
ITPR3	3710	broad.mit.edu	37	chr6	33636823	33636823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactcagaagaggaagtgtgGctcacgtggactgacaagaa	13	7	2	4			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr6:33636823G>C	uc011drk.1	+	18	2298	c.2079G>C	c.(2077-2079)TGG>TGC	p.W693C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	693	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						AGGAAGTGTGGCTCACGTGGA	0.592													C	33636823	G	C	33636823	3	2	216	1	0	0	0	0	1	0	0	0	7922	1212	42	5	2149	5	ITPR3	6	33636823	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	26263277	33636823	137478244	40	113318											
SMAP1	60682	broad.mit.edu	37	chr6	71562283	71562283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccaacgggaacacaacGgtgccacccctgaacgatga	11	13	0	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr6:71562283G>A	uc003pfr.2	+	8	953	c.705G>A	c.(703-705)ACG>ACA	p.T235T	SMAP1_uc003pfs.2_Silent_p.T208T|SMAP1_uc010kao.2_Silent_p.T208T|SMAP1_uc010kap.2_Silent_p.T225T	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	235					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0						GGAACACAACGGTGCCACCCC	0.453													A	71562283	G	A	71562283	2	1	216	1	0	0	0	0	0	0	0	1	14766	1103	39	1		1	SMAP1	6	71562283	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	37925460	71562283	99552784	41	113319											
MAP3K7	6885	broad.mit.edu	37	chr6	91269867	91269867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagccactccttgggaaCactgtaaacaccaactcatt	6	12	1	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr6:91269867C>T	uc003pnz.1	-	5	572	c.410G>A	c.(409-411)TGT>TAT	p.C137Y	MAP3K7_uc003poa.1_Missense_Mutation_p.C137Y|MAP3K7_uc003pob.1_Missense_Mutation_p.C137Y|MAP3K7_uc003poc.1_Missense_Mutation_p.C137Y	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	137	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|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		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)		TCCTTGGGAACACTGTAAACA	0.443													T	91269867	C	T	91269867	3	4	216	1	0	0	0	0	1	0	0	0	9255	478	17	4	1462	4	MAP3K7	6	91269867	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	19707584	91269867	79845200	42	113320											
AIM1	202	broad.mit.edu	37	chr6	106991352	106991352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttctttgaaggaaaatGtgtggaactagaaacaggaa	11	5	1	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr6:106991352G>A	uc003prh.2	+	9	4182	c.3695G>A	c.(3694-3696)TGT>TAT	p.C1232Y	AIM1_uc003pri.2_Missense_Mutation_p.C36Y	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1232	Beta/gamma crystallin 'Greek key' 5.						sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	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)		GAAGGAAAATGTGTGGAACTA	0.393													A	106991352	G	A	106991352	3	1	216	1	0	0	0	0	1	0	0	0	430	1377	48	4	3729	4	AIM1	6	106991352	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	15721485	106991352	64123715	43	113321											
KIF25	3834	broad.mit.edu	37	chr6	168440804	168440804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtctgcagctcagggCgaagcaccccaccctggtgc	14	14	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr6:168440804C>T	uc003qwk.1	+	6	816	c.554C>T	c.(553-555)GCG>GTG	p.A185V	KIF25_uc003qwl.1_Missense_Mutation_p.A185V	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	185	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		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)		CAGCTCAGGGCGAAGCACCCC	0.592													T	168440804	C	T	168440804	3	4	216	1	0	0	0	0	1	0	0	0	8293	768	27	1	572	1	KIF25	6	168440804	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	61449452	168440804	2674263	44	113322											
THBS2	7058	broad.mit.edu	37	chr6	169626379	169626379	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtagggacaattgtctcGttcattgaagacatctgtaa	10	7	3	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr6:169626379G>A	uc003qwt.2	-	17	2682	c.2434C>T	c.(2434-2436)CGA>TGA	p.R812*		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	812	TSP type-3 4.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CAATTGTCTCGTTCATTGAAG	0.463													A	169626379	G	A	169626379	4	1	216	1	0	0	0	0	0	1	0	0	15851	1153	40	1	1112	1	THBS2	6	169626379	Nonsense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	1185575	169626379	1488688	45	113323											
SP8	221833	broad.mit.edu	37	chr7	20824871	20824871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtagatgccctgcagccCgtccacagaggtgtgcacct	13	14	0	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr7:20824871C>T	uc003suy.2	-	3	752	c.511G>A	c.(511-513)GGG>AGG	p.G171R	SP8_uc003suz.2_Missense_Mutation_p.G189R	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CCCTGCAGCCCGTCCACAGAG	0.587													T	20824871	C	T	20824871	3	4	216	1	0	0	0	0	1	0	0	0	14970	652	23	1	965	1	SP8	7	20824871	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08		20824871	138313792	46	113324											
ANLN	54443	broad.mit.edu	37	chr7	36489415	36489415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaccgagagactcttgtcAgccaatgcagggacacactc	10	12	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr7:36489415A>G	uc003tff.2	+	23	3424	c.3220A>G	c.(3220-3222)AGC>GGC	p.S1074G	ANLN_uc011kaz.1_Missense_Mutation_p.S986G|ANLN_uc003tfg.2_Missense_Mutation_p.S1037G|ANLN_uc010kxe.2_Missense_Mutation_p.S1036G	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1074	PH.|Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						GACTCTTGTCAGCCAATGCAG	0.403													G	36489415	A	G	36489415	3	3	216	1	0	0	0	0	1	0	0	0	694	188	7	3	3310	3	ANLN	7	36489415	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	15664544	36489415	122649248	47	113325											
RBM28	55131	broad.mit.edu	37	chr7	127953233	127953233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgcagaactcacctgctCggacgataattgctgcttct	8	13	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr7:127953233C>T	uc003vmp.2	-	18	2255	c.2140G>A	c.(2140-2142)GAG>AAG	p.E714K	RBM28_uc003vmo.2_Missense_Mutation_p.E256K|RBM28_uc011koj.1_Missense_Mutation_p.E573K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	714					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						CTCACCTGCTCGGACGATAAT	0.473													T	127953233	C	T	127953233	3	4	216	1	0	0	0	0	1	0	0	0	13128	893	31	1	147	1	RBM28	7	127953233	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	91463818	127953233	31185430	48	113326											
DEFB135	613209	broad.mit.edu	37	chr8	11842018	11842018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccaaaatgtctaaaaaaCgaacaatatcgtattttgtg	7	7	1	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr8:11842018C>T	uc003wuw.1	+	2	153	c.153C>T	c.(151-153)AAC>AAT	p.N51N		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	51					defense response to bacterium	extracellular region					0						GTCTAAAAAACGAACAATATC	0.383													T	11842018	C	T	11842018	2	4	216	1	0	0	0	0	0	0	0	1	4419	535	19	1		1	DEFB135	8	11842018	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08		11842018	134522004	49	113327											
TRPA1	8989	broad.mit.edu	37	chr8	72977792	72977792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagttctatgctcaagcaagAcctaaaaaaaggggagaata	9	6	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr8:72977792A>G	uc003xza.2	-	4	621	c.446T>C	c.(445-447)GTC>GCC	p.V149A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	149	Cytoplasmic (Potential).|ANK 3.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTCAAGCAAGACCTAAAAAAA	0.294													G	72977792	A	G	72977792	3	3	216	1	0	0	0	0	1	0	0	0	16574	289	10	3	3009	3	TRPA1	8	72977792	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	61135774	72977792	73386230	50	113328											
GNE	10020	broad.mit.edu	37	chr9	36222978	36222978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcccgaggatttacacGgccacctgtggaaatgcctg	10	13	0	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr9:36222978G>A	uc010mlh.2	-	9	1644	c.1429C>T	c.(1429-1431)CGT>TGT	p.R477C	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Intron|GNE_uc011lpl.1_Missense_Mutation_p.R367C|GNE_uc010mli.2_Missense_Mutation_p.R508C|GNE_uc010mlj.2_Missense_Mutation_p.R472C	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	477	UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			GGATTTACACGGCCACCTGTG	0.468													A	36222978	G	A	36222978	3	1	216	1	0	0	0	0	1	0	0	0	6522	1116	39	1	755	1	GNE	9	36222978	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08		36222978	104990453	51	113329											
CNTNAP3	79937	broad.mit.edu	37	chr9	39178303	39178303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattggttttaaaggttttTtatcaagtctatacagcaga	7	4	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr9:39178303T>C	uc004abi.2	-	5	832	c.593A>G	c.(592-594)AAA>AGA	p.K198R	CNTNAP3_uc004abj.2_Missense_Mutation_p.K198R|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.K198R|CNTNAP3_uc011lqs.1_Missense_Mutation_p.K198R|CNTNAP3_uc004abl.1_Missense_Mutation_p.K110R	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	198	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAAGGTTTTTTATCAAGTCT	0.323													C	39178303	T	C	39178303	3	2	216	1	0	0	0	0	1	0	0	0	3648	1841	64	3	3353	3	CNTNAP3	9	39178303	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	2955325	39178303	102035128	52	113330											
C9orf171	389799	broad.mit.edu	37	chr9	135374805	135374805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcccacctgcccccaCgagctgacccggaattatat	8	17	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr9:135374805C>T	uc004cbn.2	+	4	498	c.450C>T	c.(448-450)CAC>CAT	p.H150H	C9orf171_uc004cbo.2_Silent_p.H114H	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	150										ovary(4)|large_intestine(1)	5						CCTGCCCCCACGAGCTGACCC	0.627													T	135374805	C	T	135374805	2	4	216	1	0	0	0	0	0	0	0	1	2470	535	19	1		1	C9orf171	9	135374805	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08	96196502	135374805	5838626	53	113331											
SLC16A9	220963	broad.mit.edu	37	chr10	61424004	61424004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttgaaatcaggccaagCgctaggcctcggcgatcgtc	12	13	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr10:61424004C>T	uc010qig.1	-	4	866	c.417G>A	c.(415-417)GCG>GCA	p.A139A		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	139	Helical; (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						TCAGGCCAAGCGCTAGGCCTC	0.398													T	61424004	C	T	61424004	2	4	216	1	0	0	0	0	0	0	0	1	14415	755	27	1		1	SLC16A9	10	61424004	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08		61424004	74110743	54	113332											
LRIT1	26103	broad.mit.edu	37	chr10	85997381	85997381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccaggcgcagtctggAggtgtccggggggatggacg	19	11	1	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr10:85997381A>G	uc001kcz.1	-	2	206	c.184T>C	c.(184-186)TCC>CCC	p.S62P		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	62	LRR 1.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						CGCAGTCTGGAGGTGTCCGGG	0.657													G	85997381	A	G	85997381	3	3	216	1	0	0	0	0	1	0	0	0	8947	304	11	3	1699	3	LRIT1	10	85997381	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	24573377	85997381	49537366	55	113333											
PDZD8	118987	broad.mit.edu	37	chr10	119133926	119133926	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttcttgagctggttgacGatgatggaggtgagctgggg	17	5	2	4			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr10:119133926G>A	uc001lde.1	-	1	1012	c.813C>T	c.(811-813)ATC>ATT	p.I271I		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	271					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		GCTGGTTGACGATGATGGAGG	0.597													A	119133926	G	A	119133926	2	1	216	1	0	0	0	0	0	0	0	1	11705	1048	37	1		1	PDZD8	10	119133926	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	33136545	119133926	16400821	56	113334											
CTSD	1509	broad.mit.edu	37	chr11	1774867	1774867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccatgcccatgaagcCgctcaggcagagggtcttcc	12	13	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:1774867C>T	uc001luc.1	-	9	1238	c.1105G>A	c.(1105-1107)GGC>AGC	p.G369S	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	369					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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)	CCCATGAAGCCGCTCAGGCAG	0.657													T	1774867	C	T	1774867	3	4	216	1	0	0	0	0	1	0	0	0	4032	652	23	1	137	1	CTSD	11	1774867	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08		1774867	133231649	57	113335											
OR51M1	390059	broad.mit.edu	37	chr11	5410875	5410875	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctggccctcactgacCtggggctgtgtgtgtccacg	13	14	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:5410875C>G	uc010qzc.1	+	1	247	c.247C>G	c.(247-249)CTG>GTG	p.L83V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	83						integral to membrane	olfactory receptor activity				0		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)		CCTCACTGACCTGGGGCTGTG	0.478													G	5410875	C	G	5410875	3	3	216	1	0	0	0	0	1	0	0	0	11103	680	24	5	249	5	OR51M1	11	5410875	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	3636008	5410875	129595641	58	113336											
NLRP10	338322	broad.mit.edu	37	chr11	7982173	7982173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagcttgcttctcatccGtgaaataggagctgaagtac	11	9	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:7982173G>A	uc001mfv.1	-	2	1003	c.986C>T	c.(985-987)ACG>ATG	p.T329M		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	329	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCTCATCCGTGAAATAGGA	0.507													A	7982173	G	A	7982173	3	1	216	1	0	0	0	0	1	0	0	0	10472	1145	40	1	985	1	NLRP10	11	7982173	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	2571298	7982173	127024343	59	113337											
OR4A15	81328	broad.mit.edu	37	chr11	55135528	55135528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggggcaaaaggttttatttGtcacattcttactaatctac	7	7	3	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:55135528G>T	uc010rif.1	+	1	169	c.169G>T	c.(169-171)GTC>TTC	p.V57F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	57	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGTTTTATTTGTCACATTCTT	0.428													T	55135528	G	T	55135528	3	4	216	1	0	0	0	0	1	0	0	0	11040	1377	48	5	171	5	OR4A15	11	55135528	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	47153355	55135528	79870988	60	113338											
MS4A14	84689	broad.mit.edu	37	chr11	60183390	60183390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaactcgaagatatatcaCctgaagacttgccatcccaa	5	11	1	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:60183390C>A	uc001npj.2	+	5	1514	c.949C>A	c.(949-951)CCT>ACT	p.P317T	MS4A14_uc001npi.2_Missense_Mutation_p.P205T|MS4A14_uc001npn.2_Missense_Mutation_p.P55T|MS4A14_uc001npk.2_Missense_Mutation_p.P300T|MS4A14_uc001npl.2_Missense_Mutation_p.P55T|MS4A14_uc001npm.2_Missense_Mutation_p.P55T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	317						integral to membrane	receptor activity			breast(1)	1						AGATATATCACCTGAAGACTT	0.443													A	60183390	C	A	60183390	3	1	216	1	0	0	0	0	1	0	0	0	9858	507	18	5	967	5	MS4A14	11	60183390	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	5047862	60183390	74823126	61	113339											
CAPN5	726	broad.mit.edu	37	chr11	76829348	76829348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggacccgcgacagaacCgcggtggcggctgcatcaac	14	13	1	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:76829348C>T	uc001oxx.2	+	8	1302	c.1117C>T	c.(1117-1119)CGC>TGC	p.R373C	CAPN5_uc009yup.2_Missense_Mutation_p.R413C|CAPN5_uc009yuq.2_Missense_Mutation_p.R409C|CAPN5_uc001oxy.2_Missense_Mutation_p.R413C|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	373	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						GCGACAGAACCGCGGTGGCGG	0.627													T	76829348	C	T	76829348	3	4	216	1	0	0	0	0	1	0	0	0	2629	652	23	1	1143	1	CAPN5	11	76829348	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	16645958	76829348	58177168	62	113340											
PCF11	51585	broad.mit.edu	37	chr11	82874885	82874885	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatacgtctagcatccatgtGaatcctaaatttttaaataa	4	7	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:82874885G>A	uc001ozx.3	+	3	828	c.483G>A	c.(481-483)GTG>GTA	p.V161V	PCF11_uc010rsu.1_Silent_p.V161V	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	161					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GCATCCATGTGAATCCTAAAT	0.343													A	82874885	G	A	82874885	2	1	216	1	0	0	0	0	0	0	0	1	11573	1277	45	4		4	PCF11	11	82874885	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	6045537	82874885	52131631	63	113341											
TECTA	7007	broad.mit.edu	37	chr11	121032936	121032936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctatgggcttctcgatcCcctcccattctacgagtcct	7	16	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:121032936C>T	uc010rzo.1	+	15	5129	c.5129C>T	c.(5128-5130)CCC>CTC	p.P1710L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1710					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CTTCTCGATCCCCTCCCATTC	0.602													T	121032936	C	T	121032936	3	4	216	1	0	0	0	0	1	0	0	0	15744	623	22	4	5187	4	TECTA	11	121032936	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	38158051	121032936	13973580	64	113342											
OR8D2	283160	broad.mit.edu	37	chr11	124189623	124189623	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatgcgggtagtatggacTgtggcccacagaaaacccag	13	10	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr11:124189623T>C	uc010sah.1	-	1	471	c.471A>G	c.(469-471)ACA>ACG	p.T157T		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		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)		TAGTATGGACTGTGGCCCACA	0.453													C	124189623	T	C	124189623	2	2	216	1	0	0	0	0	0	0	0	1	11232	1567	55	3		3	OR8D2	11	124189623	Silent	SNP	T	TCGA-D7-6820-01A-11D-1882-08	3156687	124189623	10816893	65	113343											
GALNT8	26290	broad.mit.edu	37	chr12	4874570	4874570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactatcacctaactggggAgctctatgtgggacaactga	10	10	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:4874570A>G	uc001qne.1	+	10	1711	c.1619A>G	c.(1618-1620)GAG>GGG	p.E540G		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	540	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						CTAACTGGGGAGCTCTATGTG	0.498													G	4874570	A	G	4874570	3	3	216	1	0	0	0	0	1	0	0	0	6219	304	11	3	1657	3	GALNT8	12	4874570	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08		4874570	128977325	66	113344											
C12orf35	55196	broad.mit.edu	37	chr12	32136728	32136728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaattagataataccActgaaaataaagactttggt	5	5	0	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:32136728A>G	uc001rks.2	+	4	3253	c.2839A>G	c.(2839-2841)ACT>GCT	p.T947A		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	947										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGATAATACCACTGAAAATAA	0.393													G	32136728	A	G	32136728	3	3	216	1	0	0	0	0	1	0	0	0	1682	159	6	3	2841	3	C12orf35	12	32136728	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	27262158	32136728	101715167	67	113345											
COL2A1	1280	broad.mit.edu	37	chr12	48367927	48367927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctattgccctctgcccggAtctccacgtcattggagccc	9	16	3	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:48367927A>G	uc001rqu.2	-	53	4443	c.4262T>C	c.(4261-4263)ATC>ACC	p.I1421T	COL2A1_uc001rqt.2_Missense_Mutation_p.I202T|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1352T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1421	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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCTGCCCGGATCTCCACGTC	0.582													G	48367927	A	G	48367927	3	3	216	1	0	0	0	0	1	0	0	0	3687	333	12	3	209	3	COL2A1	12	48367927	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	16231199	48367927	85483968	68	113346											
DGKA	1606	broad.mit.edu	37	chr12	56347514	56347515	+	Frame_Shift_Ins	INS	-	-	C													gcccatgctcatgggcccacINSccccccgctccaccaatttc							TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:56347513_56347514A>AC	uc001sij.3	+	23	2433_2434	c.2169_2170A>AC	c.(2167-2172)ccacccfs	p.P723fs	DGKA_uc001sik.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sil.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sim.3_Frame_Shift_Ins_p.P723fs|DGKA_uc001sin.3_Frame_Shift_Ins_p.P723fs|DGKA_uc009zof.3_Frame_Shift_Ins_p.P369fs|DGKA_uc001sio.3_Frame_Shift_Ins_p.P465fs	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	723					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)	TCATGGGCCCACCCCCCCGCTC	0.579													C	56347515	-	C	56347514	7	5	216	1	0	1	1	0	0	0	0	0	4465	507	18	0	2260	0	DGKA	12	56347514	Frame_Shift_Ins	INS	-	TCGA-D7-6820-01A-11D-1882-08	7979587	56347514	77504381	69	113347											
TRHDE	29953	broad.mit.edu	37	chr12	72863563	72863563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgtgcctaagcatccGtatgctgctatggagaactg	11	9	0	1	rs149072587	byFrequency	TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:72863563G>A	uc001sxa.2	+	4	1236	c.1206G>A	c.(1204-1206)CCG>CCA	p.P402P		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	402	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CTAAGCATCCGTATGCTGCTA	0.368													A	72863563	G	A	72863563	2	1	216	1	0	0	0	0	0	0	0	1	16476	1132	40	1		1	TRHDE	12	72863563	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	16516049	72863563	60988332	70	113348											
MYF5	4617	broad.mit.edu	37	chr12	81112803	81112803	+	Frame_Shift_Del	DEL	T	T	-													gcaactccaggggcttctagTtccaggcttatctatcatgt							TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:81112802_81112802GT>G	uc001szg.2	+	2	875	c.740_740GT>G	c.(739-741)agtfs	p.S247fs		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	247					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGGGCTTCTAGTTCCAGGCTT	0.488													-	81112803	T	-	81112803	7	5	216	1	0	1	0	1	0	0	0	0	10027	1722	60	0	751	0	MYF5	12	81112803	Frame_Shift_Del	DEL	T	TCGA-D7-6820-01A-11D-1882-08	8249240	81112803	52739092	71	113349											
ANKS1B	56899	broad.mit.edu	37	chr12	100206067	100206067	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttgttgatgcctcatactGaagtagtttgagaactatgt	9	5	1	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:100206067G>A	uc001tge.1	-	3	655	c.238C>T	c.(238-240)CAG>TAG	p.Q80*	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Nonsense_Mutation_p.Q80*	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	80	ANK 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		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)		GCCTCATACTGAAGTAGTTTG	0.348													A	100206067	G	A	100206067	4	1	216	1	0	0	0	0	0	1	0	0	689	1299	45	4	3892	4	ANKS1B	12	100206067	Nonsense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	19093264	100206067	33645828	72	113350											
PTPN11	5781	broad.mit.edu	37	chr12	112891073	112891073	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaacatggtagttttcTtgtacgagagagccagagcc	12	7	1	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:112891073T>A	uc001ttx.2	+	4	787	c.407T>A	c.(406-408)CTT>CAT	p.L136H	PTPN11_uc001ttw.1_Missense_Mutation_p.L136H	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	136	SH2 2.				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			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						GGTAGTTTTCTTGTACGAGAG	0.403			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				A	112891073	T	A	112891073	3	1	216	1	0	0	0	0	1	0	0	0	12780	1609	56	5	421	5	PTPN11	12	112891073	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	12685006	112891073	20960822	73	113351											
OASL	8638	broad.mit.edu	37	chr12	121458498	121458498	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctgctgctgcttttTaggaagcccctgctggtctt	10	12	1	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:121458498T>A	uc001tzj.1	-	6	1417	c.1411A>T	c.(1411-1413)AAA>TAA	p.K471*	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	471	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGCTTTTTAGGAAGCCCC	0.537													A	121458498	T	A	121458498	4	1	216	1	0	0	0	0	0	1	0	0	10802	1763	61	5	137	5	OASL	12	121458498	Nonsense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	8567425	121458498	12393397	74	113352											
VPS33A	65082	broad.mit.edu	37	chr12	122750940	122750940	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggttcactcggccgtaggAcagatgagccgccatcttgc	12	12	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:122750940A>C	uc001ucd.2	-	1	129	c.16T>G	c.(16-18)TCC>GCC	p.S6A	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.S6A	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	6					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			skin(1)	1	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)		CGGCCGTAGGACAGATGAGCC	0.652													C	122750940	A	C	122750940	3	2	216	1	0	0	0	0	1	0	0	0	17198	275	10	5	1826	5	VPS33A	12	122750940	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	1292442	122750940	11100955	75	113353											
ULK1	8408	broad.mit.edu	37	chr12	132380356	132380356	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaaacatcgtggcccTgtacgacttccaggtaaggc	10	11	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr12:132380356T>A	uc001uje.2	+	3	501	c.233T>A	c.(232-234)CTG>CAG	p.L78Q		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	78	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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		ATCGTGGCCCTGTACGACTTC	0.627													A	132380356	T	A	132380356	3	1	216	1	0	0	0	0	1	0	0	0	16972	1580	55	5	243	5	ULK1	12	132380356	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	9629416	132380356	1471539	76	113354											
C13orf34	79866	broad.mit.edu	37	chr13	73303150	73303150	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggatccctgttttaaatccTtttgaaagtcctagtgatta	7	7	0	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr13:73303150T>A	uc001viv.1	+	2	191	c.72T>A	c.(70-72)CCT>CCA	p.P24P	C13orf37_uc001viu.2_5'Flank|C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Silent_p.P99P|C13orf34_uc010thr.1_5'UTR|C13orf34_uc001viw.1_Silent_p.P24P	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	24					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)		TTTTAAATCCTTTTGAAAGTC	0.358													A	73303150	T	A	73303150	2	1	216	1	0	0	0	0	0	0	0	1	1728	1596	56	5		5	C13orf34	13	73303150	Silent	SNP	T	TCGA-D7-6820-01A-11D-1882-08		73303150	41866728	77	113355											
MYCBP2	23077	broad.mit.edu	37	chr13	77636799	77636799	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgatctacgtggtcctgatCaagaacacatagggatgcga	11	9	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr13:77636799C>G	uc001vkf.2	-	75	12683	c.12592G>C	c.(12592-12594)GAT>CAT	p.D4198H	MYCBP2_uc010aev.2_Missense_Mutation_p.D3602H|MYCBP2_uc001vke.2_Missense_Mutation_p.D815H	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGTCCTGATCAAGAACACAT	0.428													G	77636799	C	G	77636799	3	3	216	1	0	0	0	0	1	0	0	0	10018	826	29	5	1370	5	MYCBP2	13	77636799	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	4333649	77636799	37533079	78	113356											
MYCBP2	23077	broad.mit.edu	37	chr13	77671759	77671759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcatattctgggaagcaGctttgatagtagccaaagag	10	6	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr13:77671759G>A	uc001vkf.2	-	57	9507	c.9416C>T	c.(9415-9417)GCT>GTT	p.A3139V	MYCBP2_uc010aev.2_Missense_Mutation_p.A2543V|MYCBP2_uc001vkg.1_Missense_Mutation_p.A662V|MYCBP2_uc010aew.2_Missense_Mutation_p.A525V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGGGAAGCAGCTTTGATAGT	0.299													A	77671759	G	A	77671759	3	1	216	1	0	0	0	0	1	0	0	0	10018	971	34	2	4618	2	MYCBP2	13	77671759	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	34960	77671759	37498119	79	113357											
NALCN	259232	broad.mit.edu	37	chr13	101797186	101797186	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtttggaaatttttcaAagattcgcaggcgtaaaggg	12	5	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr13:101797186A>C	uc001vox.1	-	16	2090	c.1901T>G	c.(1900-1902)TTT>TGT	p.F634C	NALCN_uc001voy.2_Missense_Mutation_p.F349C	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	634	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATTTTTCAAAGATTCGCAG	0.358													C	101797186	A	C	101797186	3	2	216	1	0	0	0	0	1	0	0	0	10148	14	1	5	3431	5	NALCN	13	101797186	Missense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	24125427	101797186	13372692	80	113358											
TRIM9	114088	broad.mit.edu	37	chr14	51467488	51467488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctgtttccaggacaaCgtagcgctgttgttgtgggt	16	7	0	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr14:51467488C>T	uc001wyx.3	-	6	2142	c.1377G>A	c.(1375-1377)ACG>ACA	p.T459T	TRIM9_uc001wyy.2_Silent_p.T455T|TRIM9_uc001wyz.3_Silent_p.T459T	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	459	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					TCCAGGACAACGTAGCGCTGT	0.532													T	51467488	C	T	51467488	2	4	216	1	0	0	0	0	0	0	0	1	16546	523	19	1		1	TRIM9	14	51467488	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08		51467488	55882052	81	113359											
KLC1	3831	broad.mit.edu	37	chr14	104053664	104053664	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggacttctacaaggaatttTtaagtaaaaattttcagaag	7	5	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr14:104053664T>A	uc010tyd.1	+	4	479	c.439T>A	c.(439-441)TTA>ATA	p.L147I	C14orf153_uc001ynl.3_RNA|C14orf153_uc010tyc.1_Missense_Mutation_p.L160I	NM_005552	NP_005543	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 1	106					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				CAAGGAATTTTTAAGTAAAAA	0.338													A	104053664	T	A	104053664	3	1	216	1	0	0	0	0	1	0	0	0	8333	1838	64	5		5	KLC1	14	104053664	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	52586176	104053664	3295876	82	113360											
ADSSL1	122622	broad.mit.edu	37	chr14	105201396	105201396	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acacggtggtggtggatgggAaagagtacgacttccacctg	15	8	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr14:105201396A>T	uc001ypd.2	+	2	306	c.232A>T	c.(232-234)AAA>TAA	p.K78*	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Nonsense_Mutation_p.K121*|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	78					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		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)	GGTGGATGGGAAAGAGTACGA	0.612													T	105201396	A	T	105201396	4	4	216	1	0	0	0	0	0	1	0	0	348	247	9	5	563	5	ADSSL1	14	105201396	Nonsense_Mutation	SNP	A	TCGA-D7-6820-01A-11D-1882-08	1147732	105201396	2148144	83	113361											
IGDCC3	9543	broad.mit.edu	37	chr15	65621754	65621754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggggtccggctgccctgCtgcgctggccggggggaaca	18	13	1	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr15:65621754C>A	uc002aos.2	-	13	2431	c.2179G>T	c.(2179-2181)GCA>TCA	p.A727S	IGDCC3_uc002aor.1_Missense_Mutation_p.A14S	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	727	Cytoplasmic (Potential).									ovary(3)	3						GGCTGCCCTGCTGCGCTGGCC	0.642													A	65621754	C	A	65621754	3	1	216	1	0	0	0	0	1	0	0	0	7568	797	28	5	273	5	IGDCC3	15	65621754	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08		65621754	36909638	84	113362											
AXIN1	8312	broad.mit.edu	37	chr16	354405	354405	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccgcgaacttctgagGctccacgcggacctccttcg	9	18	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr16:354405G>C	uc002cgp.1	-	5	1330	c.1153C>G	c.(1153-1155)CCT>GCT	p.P385A	AXIN1_uc002cgq.1_Missense_Mutation_p.P385A	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	385	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			breast(1)|liver(1)	2		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)				AACTTCTGAGGCTCCACGCGG	0.642													C	354405	G	C	354405	3	2	216	1	0	0	0	0	1	0	0	0	1236	1203	42	5	1463	5	AXIN1	16	354405	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08		354405	90000348	85	113363											
IGFALS	3483	broad.mit.edu	37	chr16	1841608	1841608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggttgtgggacaggtccaGccatcgcagcgccttcaggc	15	13	1	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr16:1841608G>C	uc002cmy.2	-	2	892	c.811C>G	c.(811-813)CTG>GTG	p.L271V	IGFALS_uc010uvn.1_Missense_Mutation_p.L309V|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	271	LRR 9.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GACAGGTCCAGCCATCGCAGC	0.692													C	1841608	G	C	1841608	3	2	216	1	0	0	0	0	1	0	0	0	7577	962	34	5	1010	5	IGFALS	16	1841608	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	1487203	1841608	88513145	86	113364											
LRRC29	26231	broad.mit.edu	37	chr16	67241591	67241591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggcttggaagcgtcTgacggcggccatgttgatgc	16	10	1	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr16:67241591T>C	uc002esd.2	-	4	1486	c.589A>G	c.(589-591)AGA>GGA	p.R197G	LRRC29_uc002ese.2_Missense_Mutation_p.R197G|LRRC29_uc002esf.2_Missense_Mutation_p.R197G|LRRC29_uc002esg.2_Missense_Mutation_p.R197G	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	F-box and leucine-rich repeat protein 9	197	LRR 7.										0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGAAGCGTCTGACGGCGGCC	0.642													C	67241591	T	C	67241591	3	2	216	1	0	0	0	0	1	0	0	0	8983	1588	55	3	86	3	LRRC29	16	67241591	Missense_Mutation	SNP	T	TCGA-D7-6820-01A-11D-1882-08	65399983	67241591	23113162	87	113365											
GALNS	2588	broad.mit.edu	37	chr16	88884510	88884510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggtgatcctgctgagggcctCctggtactcggcgctggcaa	15	12	0	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr16:88884510C>G	uc002fly.3	-	13	1476	c.1387G>C	c.(1387-1389)GAG>CAG	p.E463Q	GALNS_uc002flx.2_RNA|GALNS_uc010cid.2_Missense_Mutation_p.E469Q|GALNS_uc002flz.3_Missense_Mutation_p.E146Q	NM_000512	NP_000503	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	463						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CTGAGGGCCTCCTGGTACTCG	0.667													G	88884510	C	G	88884510	3	3	216	1	0	0	0	0	1	0	0	0	6206	864	30	5	189	5	GALNS	16	88884510	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	21642919	88884510	1470243	88	113366											
BCL6B	255877	broad.mit.edu	37	chr17	6927474	6927474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctgcccgggggtccCgaagcgagaggcttcgcccc	13	17	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr17:6927474C>T	uc002geg.2	+	3	309	c.252C>T	c.(250-252)CCC>CCT	p.P84P	BCL6B_uc010clt.1_Silent_p.P84P	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	84	BTB.					nucleus	zinc ion binding			skin(1)	1						CCGGGGGTCCCGAAGCGAGAG	0.602													T	6927474	C	T	6927474	2	4	216	1	0	0	0	0	0	0	0	1	1377	639	23	1		1	BCL6B	17	6927474	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08		6927474	74267736	89	113367											
ZBTB4	57659	broad.mit.edu	37	chr17	7369455	7369455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagcactgcaagtcaggGgcctgggcctcagccctgtc	15	13	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr17:7369455G>A	uc002ghc.3	-	3	916	c.666C>T	c.(664-666)GCC>GCT	p.A222A	ZBTB4_uc002ghd.3_Silent_p.A222A	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCAAGTCAGGGGCCTGGGCCT	0.692													A	7369455	G	A	7369455	2	1	216	1	0	0	0	0	0	0	0	1	17538	1219	43	4		4	ZBTB4	17	7369455	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	441981	7369455	73825755	90	113368											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	12	7	0	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr17:7577570C>T	uc002gim.2	-	7	905	c.711G>A	c.(709-711)ATG>ATA	p.M237I	TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	237	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(99)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.M144I(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		AACTGTTACACATGTAGTTGT	0.567		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577570	C	T	7577570	3	4	216	1	0	0	0	0	1	0	0	0	16378	478	17	4	579	4	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	208115	7577570	73617640	91	113369											
HOXB13	10481	broad.mit.edu	37	chr17	46805729	46805729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaccataaggcacgggaGctggggacgtcccctggggc	16	11	0	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr17:46805729G>A	uc002ioa.2	-	1	383	c.227C>T	c.(226-228)GCT>GTT	p.A76V		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	76					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGGCACGGGAGCTGGGGACGT	0.657													A	46805729	G	A	46805729	3	1	216	1	0	0	0	0	1	0	0	0	7300	971	34	2	635	2	HOXB13	17	46805729	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	39228159	46805729	34389481	92	113370											
SCN4A	6329	broad.mit.edu	37	chr17	62045625	62045625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgcagtcctaccagcGcaaagacgctcaggcagaag	12	12	1	3			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr17:62045625G>A	uc002jds.1	-	6	871	c.794C>T	c.(793-795)GCG>GTG	p.A265V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	265	I.|Helical; Name=S5 of repeat I; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TCCTACCAGCGCAAAGACGCT	0.582													A	62045625	G	A	62045625	3	1	216	1	0	0	0	0	1	0	0	0	13920	1087	38	1	4792	1	SCN4A	17	62045625	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	15239896	62045625	19149585	93	113371											
GNA13	10672	broad.mit.edu	37	chr17	63052577	63052577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggatcttcaccagccgcttCacataggtcttttcccgaga	8	13	4	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr17:63052577C>T	uc002jfc.2	-	1	344	c.135G>A	c.(133-135)GTG>GTA	p.V45V	GNA13_uc010wqh.1_5'Flank	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	45					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						CCAGCCGCTTCACATAGGTCT	0.622													T	63052577	C	T	63052577	2	4	216	1	0	0	0	0	0	0	0	1	6501	813	29	4		4	GNA13	17	63052577	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08	1006952	63052577	18142633	94	113372											
ABCA5	23461	broad.mit.edu	37	chr17	67303037	67303037	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttctacaacagcagtttctCccataataacagctttagtt	4	10	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr17:67303037C>G	uc002jif.2	-	5	1835	c.617G>C	c.(616-618)GGA>GCA	p.G206A	ABCA5_uc002jig.2_Missense_Mutation_p.G206A|ABCA5_uc002jih.2_Missense_Mutation_p.G206A|ABCA5_uc010dfe.2_Missense_Mutation_p.G206A	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	206					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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AGCAGTTTCTCCCATAATAAC	0.313													G	67303037	C	G	67303037	3	3	216	1	0	0	0	0	1	0	0	0	35	855	30	5	4447	5	ABCA5	17	67303037	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	4250460	67303037	13892173	95	113373											
ANKRD12	23253	broad.mit.edu	37	chr18	9255014	9255014	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgatcttgttcggtaTgataatacagaatctgaatt	8	7	2	4			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr18:9255014T>C	uc002knv.2	+	9	2006	c.1749T>C	c.(1747-1749)TAT>TAC	p.Y583Y	ANKRD12_uc002knw.2_Silent_p.Y560Y|ANKRD12_uc002knx.2_Silent_p.Y560Y|ANKRD12_uc010dkx.1_Silent_p.Y290Y	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	583						nucleus				ovary(2)|central_nervous_system(1)	3						TTGTTCGGTATGATAATACAG	0.328													C	9255014	T	C	9255014	2	2	216	1	0	0	0	0	0	0	0	1	640	1471	51	3		3	ANKRD12	18	9255014	Silent	SNP	T	TCGA-D7-6820-01A-11D-1882-08		9255014	68822234	96	113374											
ZNF521	25925	broad.mit.edu	37	chr18	22805131	22805131	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctttctttttcacgatGgcactttctccaggtctgat	7	11	5	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr18:22805131G>T	uc002kvk.2	-	4	2998	c.2751C>A	c.(2749-2751)GCC>GCA	p.A917A	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.A917A|ZNF521_uc002kvl.2_Silent_p.A697A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	917					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTCACGATGGCACTTTCTC	0.488			T	PAX5	ALL								T	22805131	G	T	22805131	2	4	216	1	0	0	0	0	0	0	0	1	17962	1335	47	5		5	ZNF521	18	22805131	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	13550117	22805131	55272117	97	113375											
KCTD1	284252	broad.mit.edu	37	chr18	24035839	24035839	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagcccacgatttcaaaTcctctttgctgcaacctctc	6	15	3	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr18:24035839T>C	uc002kvw.2	-	5	1202	c.642A>G	c.(640-642)GGA>GGG	p.G214G	KCTD1_uc010xbj.1_Silent_p.G822G|KCTD1_uc010xbk.1_Silent_p.G214G|KCTD1_uc002kvy.2_3'UTR	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	214					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			ovary(1)	1	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)			CGATTTCAAATCCTCTTTGCT	0.562													C	24035839	T	C	24035839	2	2	216	1	0	0	0	0	0	0	0	1	8096	1422	50	3		3	KCTD1	18	24035839	Silent	SNP	T	TCGA-D7-6820-01A-11D-1882-08	1230708	24035839	54041409	98	113376											
TCEB3C	162699	broad.mit.edu	37	chr18	44549225	44549225	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcaagaaccgagtagggGaccccttccacgtcgccgag	13	13	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr18:44549225G>A	uc010dnr.2	-	1	1074	c.1074C>T	c.(1072-1074)GTC>GTT	p.V358V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_001100817	NP_001094287	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	358	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						CCGAGTAGGGGACCCCTTCCA	0.642													A	44549225	G	A	44549225	2	1	216	1	0	0	0	0	0	0	0	1	15680	1161	41	4		4	TCEB3C	18	44549225	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	20513386	44549225	33528023	99	113377											
PCSK4	54760	broad.mit.edu	37	chr19	1488005	1488005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccttctcgatgccatcGtccagcacagagaccacgat	9	14	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr19:1488005G>A	uc002ltb.1	-	4	536	c.474C>T	c.(472-474)GAC>GAT	p.D158D	PCSK4_uc002lta.2_Translation_Start_Site	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	158	Catalytic (By similarity).	Charge relay system (By similarity).			proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		CGATGCCATCGTCCAGCACAG	0.682													A	1488005	G	A	1488005	2	1	216	1	0	0	0	0	0	0	0	1	11602	1136	40	1		1	PCSK4	19	1488005	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08		1488005	57640978	100	113378											
KCNJ14	3770	broad.mit.edu	37	chr19	48967993	48967993	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatggggctgctagccccCgagttctcacaccaaccctg	10	15	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr19:48967993C>T	uc002pje.1	+	3	1675	c.1270C>T	c.(1270-1272)CGA>TGA	p.R424*	KCNJ14_uc002pjf.1_Nonsense_Mutation_p.R424*	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	424	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(1)	1		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)		TGCTAGCCCCCGAGTTCTCAC	0.572													T	48967993	C	T	48967993	4	4	216	1	0	0	0	0	0	1	0	0	8048	644	23	1	1276	1	KCNJ14	19	48967993	Nonsense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	47479988	48967993	10160990	101	113379											
ZNF132	7691	broad.mit.edu	37	chr19	58944795	58944795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtgaactttctggtgCcgaacaagtgtagatctttc	11	8	2	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr19:58944795C>T	uc002qst.3	-	3	2417	c.2016G>A	c.(2014-2016)CGG>CGA	p.R672R		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	672	C2H2-type 17.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		CTTTCTGGTGCCGAACAAGTG	0.448													T	58944795	C	T	58944795	2	4	216	1	0	0	0	0	0	0	0	1	17719	726	26	2		2	ZNF132	19	58944795	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08	9976802	58944795	184188	102	113380											
SLC23A2	9962	broad.mit.edu	37	chr20	4854604	4854604	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtatggaaccttaaaccaCggggctaccagaagcacgcc	12	12	0	1	rs62636560	byFrequency	TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr20:4854604C>A	uc002wlg.1	-	11	1455	c.1080G>T	c.(1078-1080)CCG>CCT	p.P360P	SLC23A2_uc010zqr.1_Silent_p.P245P|SLC23A2_uc002wlh.1_Silent_p.P360P|SLC23A2_uc002wli.2_Silent_p.P359P	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	360					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			ovary(2)	2						CCTTAAACCACGGGGCTACCA	0.547													A	4854604	C	A	4854604	2	1	216	1	0	0	0	0	0	0	0	1	14463	523	19	5		5	SLC23A2	20	4854604	Silent	SNP	C	TCGA-D7-6820-01A-11D-1882-08		4854604	58170916	103	113381											
XRN2	22803	broad.mit.edu	37	chr20	21306950	21306950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggtgtaaagattccagttGatgccagtaaacctaatcca	8	8	0	2			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr20:21306950G>A	uc002wsf.1	+	2	204	c.109G>A	c.(109-111)GAT>AAT	p.D37N	XRN2_uc002wsg.1_Intron|XRN2_uc010zsk.1_5'UTR	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	37					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			skin(1)	1						GATTCCAGTTGATGCCAGTAA	0.363													A	21306950	G	A	21306950	3	1	216	1	0	0	0	0	1	0	0	0	17457	1290	45	4	115	4	XRN2	20	21306950	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	16452346	21306950	41718570	104	113382											
SSTR4	6754	broad.mit.edu	37	chr20	23016831	23016831	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacctgctcatcgtgggcaaGatgcgcgccgtggccctgcg	14	14	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr20:23016831G>C	uc002wsr.2	+	1	775	c.711G>C	c.(709-711)AAG>AAC	p.K237N		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	237	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCGTGGGCAAGATGCGCGCCG	0.642													C	23016831	G	C	23016831	3	2	216	1	0	0	0	0	1	0	0	0	15199	933	33	5	713	5	SSTR4	20	23016831	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	1709881	23016831	40008689	105	113383											
NANP	140838	broad.mit.edu	37	chr20	25597072	25597072	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccttttgtttcctggattGcttcttcccaatgtgaagtc	7	11	1	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr20:25597072G>C	uc002wuy.2	-	2	300	c.236C>G	c.(235-237)GCA>GGA	p.A79G		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	79					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity				0						TTCCTGGATTGCTTCTTCCCA	0.363													C	25597072	G	C	25597072	3	2	216	1	0	0	0	0	1	0	0	0	10154	1319	46	5	514	5	NANP	20	25597072	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	2580241	25597072	37428448	106	113384											
TAF4	6874	broad.mit.edu	37	chr20	60582625	60582625	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaaaggcacaaggtaaGgttgaggtgaagaattaagt	14	3	1	3	rs6089604		TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr20:60582625G>C	uc002ybs.2	-	6	1952	c.1952C>G	c.(1951-1953)CCT>CGT	p.P651R		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	651	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			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CACAAGGTAAGGTTGAGGTGA	0.478													C	60582625	G	C	60582625	3	2	216	1	0	0	0	0	1	0	0	0	15523	1000	35	5	1345	5	TAF4	20	60582625	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08	34985553	60582625	2442895	107	113385											
MYO18B	84700	broad.mit.edu	37	chr22	26224916	26224916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggacctttgtctccaCgctacagcgatatcaagagg	10	13	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr22:26224916C>T	uc003abz.1	+	15	3210	c.2960C>T	c.(2959-2961)ACG>ATG	p.T987M	MYO18B_uc003aca.1_Missense_Mutation_p.T868M|MYO18B_uc010guy.1_Missense_Mutation_p.T868M|MYO18B_uc010guz.1_Missense_Mutation_p.T868M|MYO18B_uc011aka.1_Missense_Mutation_p.T141M|MYO18B_uc011akb.1_Missense_Mutation_p.T500M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	987	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TTTGTCTCCACGCTACAGCGA	0.597													T	26224916	C	T	26224916	3	4	216	1	0	0	0	0	1	0	0	0	10066	536	19	1	3014	1	MYO18B	22	26224916	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08		26224916	25079650	108	113386											
MYH9	4627	broad.mit.edu	37	chr22	36690172	36690172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtcggccagctctgtgCgcacgcgctctccctcgttg	11	17	2	0			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chr22:36690172C>T	uc003apg.2	-	28	4034	c.3803G>A	c.(3802-3804)CGC>CAC	p.R1268H		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1268	Potential.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CAGCTCTGTGCGCACGCGCTC	0.667			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36690172	C	T	36690172	3	4	216	1	0	0	0	0	1	0	0	0	10042	768	27	1	2135	1	MYH9	22	36690172	Missense_Mutation	SNP	C	TCGA-D7-6820-01A-11D-1882-08	10465256	36690172	14614394	109	113387											
TBC1D25	4943	broad.mit.edu	37	chrX	48418150	48418150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacctggaattcatccGcagcacggtcctcaaggatg	12	11	2	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chrX:48418150G>T	uc004dka.1	+	6	965	c.854G>T	c.(853-855)CGC>CTC	p.R285L	TBC1D25_uc011mly.1_Missense_Mutation_p.R227L|TBC1D25_uc004dkb.1_Missense_Mutation_p.R31L|TBC1D25_uc011mlz.1_Missense_Mutation_p.R31L|TBC1D25_uc011mma.1_Missense_Mutation_p.R31L|TBC1D25_uc004dkc.1_Missense_Mutation_p.R31L|TBC1D25_uc011mmb.1_Missense_Mutation_p.R289L|TBC1D25_uc011mmc.1_Missense_Mutation_p.R31L|TBC1D25_uc011mmd.1_Missense_Mutation_p.R31L	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	285	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1						GAATTCATCCGCAGCACGGTC	0.627													T	48418150	G	T	48418150	3	4	216	1	0	0	0	0	1	0	0	0	15612	1087	38	5	876	5	TBC1D25	23	48418150	Missense_Mutation	SNP	G	TCGA-D7-6820-01A-11D-1882-08		48418150	106852410	110	113388											
TFDP3	51270	broad.mit.edu	37	chrX	132351883	132351883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacttggcgaccagctcGcccaccacttcctggcagga	10	16	0	1			TCGA-D7-6820-01A-11D-1882-08	TCGA-D7-6820-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	554922f2-ed07-44d7-ac3a-7e91e1b30ba6	e2135723-2e4d-4cab-bebb-35f7653d2e34	g.chrX:132351883G>A	uc004exb.1	-	1	494	c.405C>T	c.(403-405)GGC>GGT	p.G135G		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	135	Potential.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CGACCAGCTCGCCCACCACTT	0.552													A	132351883	G	A	132351883	2	1	216	1	0	0	0	0	0	0	0	1	15796	1074	38	1		1	TFDP3	23	132351883	Silent	SNP	G	TCGA-D7-6820-01A-11D-1882-08	83933733	132351883	22918677	111	113389											
TNFRSF8	943	broad.mit.edu	37	chr1	12169629	12169629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccccctgcaggcacggCgcagaagaacacggtctgtg	13	14	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:12169629C>T	uc001atq.2	+	5	650	c.428C>T	c.(427-429)GCG>GTG	p.A143V	TNFRSF8_uc010obc.1_Missense_Mutation_p.A32V	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	143	TNFR-Cys 3.|Extracellular (Potential).				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				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	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)		GCAGGCACGGCGCAGAAGAAC	0.612													T	12169629	C	T	12169629	3	4	217	1	0	0	0	0	1	0	0	0	16296	768	27	1	446	1	TNFRSF8	1	12169629	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08		12169629	237080992	1	113390											
DLGAP3	58512	broad.mit.edu	37	chr1	35370218	35370218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactccaccagcctgtggacTtggcctggtgccgcccatcc	10	17	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:35370218T>C	uc001byc.2	-	1	767	c.767A>G	c.(766-768)AAG>AGG	p.K256R		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	256					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				GCCTGTGGACTTGGCCTGGTG	0.537													C	35370218	T	C	35370218	3	2	217	1	0	0	0	0	1	0	0	0	4561	1609	56	3	2212	3	DLGAP3	1	35370218	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	23200589	35370218	213880403	2	113391											
HIVEP3	59269	broad.mit.edu	37	chr1	42046841	42046841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgttggctgggtgagGcatgagctgggggagatgga	23	3	0	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:42046841G>A	uc001cgz.3	-	4	4841	c.3628C>T	c.(3628-3630)CCT>TCT	p.P1210S	HIVEP3_uc001cha.3_Missense_Mutation_p.P1210S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1210					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGGGTGAGGCATGAGCTGG	0.602													A	42046841	G	A	42046841	3	1	217	1	0	0	0	0	1	0	0	0	7188	1203	42	2	3616	2	HIVEP3	1	42046841	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	6676623	42046841	207203780	3	113392											
TIE1	7075	broad.mit.edu	37	chr1	43775063	43775063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccatctcttttagtccaCcaaggccattgtggagccag	8	15	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:43775063C>T	uc001ciu.2	+	9	1272	c.1193C>T	c.(1192-1194)ACC>ATC	p.T398I	TIE1_uc010okd.1_Missense_Mutation_p.T398I|TIE1_uc010oke.1_Missense_Mutation_p.T353I|TIE1_uc009vwq.2_Missense_Mutation_p.T354I|TIE1_uc010okf.1_Missense_Mutation_p.T43I|TIE1_uc010okg.1_Missense_Mutation_p.T43I|TIE1_uc010okc.1_Silent_p.H306H	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	398	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTTAGTCCACCAAGGCCATT	0.607													T	43775063	C	T	43775063	3	4	217	1	0	0	0	0	1	0	0	0	15890	507	18	4	1227	4	TIE1	1	43775063	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	1728222	43775063	205475558	4	113393											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484944	45484944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtagcctcagtaggggtgaAgagtgtgtaccagctctgca	14	8	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:45484944A>T	uc001cnd.2	-	14	2968	c.2740T>A	c.(2740-2742)TTC>ATC	p.F914I		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	914							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GTAGGGGTGAAGAGTGTGTAC	0.587											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45484944	A	T	45484944	3	4	217	1	0	0	0	0	1	0	0	0	18241	72	3	5	821	5	ZSWIM5	1	45484944	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	1709881	45484944	203765677	5	113394											
LRRC7	57554	broad.mit.edu	37	chr1	70501901	70501901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaaacttgttctgctagGgaaggacaaaaaaggtaaca	9	8	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:70501901G>A	uc001dep.2	+	17	2009	c.1979G>A	c.(1978-1980)GGG>GAG	p.G660E	LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'Flank	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	660						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GTTCTGCTAGGGAAGGACAAA	0.413													A	70501901	G	A	70501901	3	1	217	1	0	0	0	0	1	0	0	0	9020	1232	43	4	2045	4	LRRC7	1	70501901	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	25016957	70501901	178748720	6	113395											
ELTD1	64123	broad.mit.edu	37	chr1	79392725	79392725	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataagaagttgtcagatgatGaaagcaaaggaccaatactc	9	6	1	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:79392725G>A	uc001diq.3	-	8	1085	c.929C>T	c.(928-930)TCA>TTA	p.S310L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	310	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTCAGATGATGAAAGCAAAGG	0.303													A	79392725	G	A	79392725	3	1	217	1	0	0	0	0	1	0	0	0	5084	1294	45	4	1175	4	ELTD1	1	79392725	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	8890824	79392725	169857896	7	113396											
DDX20	11218	broad.mit.edu	37	chr1	112308719	112308719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcccgttgaaaactccaCcaacagtcagcaccaggtca	7	15	2	1	rs145908941		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:112308719C>A	uc001ebs.2	+	11	2030	c.1673C>A	c.(1672-1674)ACC>AAC	p.T558N	DDX20_uc010owf.1_Missense_Mutation_p.T320N|DDX20_uc001ebt.2_Missense_Mutation_p.T166N	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	558					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			lung(1)|kidney(1)	2		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)		GAAAACTCCACCAACAGTCAG	0.448													A	112308719	C	A	112308719	3	1	217	1	0	0	0	0	1	0	0	0	4348	507	18	5	1715	5	DDX20	1	112308719	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	32915994	112308719	136941902	8	113397											
HRNR	388697	broad.mit.edu	37	chr1	152191590	152191590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtcgtccctggctagAgaagtgacctgaggcagaac	12	11	0	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:152191590A>G	uc001ezt.1	-	3	2591	c.2515T>C	c.(2515-2517)TCT>CCT	p.S839P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	839	9.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGCTAGAGAAGTGACCT	0.542													G	152191590	A	G	152191590	3	3	217	1	0	0	0	0	1	0	0	0	7359	304	11	3	6041	3	HRNR	1	152191590	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	39882871	152191590	97059031	9	113398											
FLG	2312	broad.mit.edu	37	chr1	152283455	152283455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtctggagccatctcTtgactgctcccgagaagatc	12	11	2	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:152283455T>C	uc001ezu.1	-	3	3943	c.3907A>G	c.(3907-3909)AGA>GGA	p.R1303G	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1303	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gagccatctcttgactgctcc	0.373									Ichthyosis				C	152283455	T	C	152283455	3	2	217	1	0	0	0	0	1	0	0	0	5922	1617	56	3	8282	3	FLG	1	152283455	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	91865	152283455	96967166	10	113399											
FLG2	388698	broad.mit.edu	37	chr1	152329104	152329104	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactacaagactggctaccTccagacccatattgtccaca	5	14	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:152329104T>G	uc001ezw.3	-	3	1231	c.1158A>C	c.(1156-1158)GGA>GGC	p.G386G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	386	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGCTACCTCCAGACCCAT	0.433													G	152329104	T	G	152329104	2	3	217	1	0	0	0	0	0	0	0	1	5923	1538	54	5		5	FLG2	1	152329104	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	45649	152329104	96921517	11	113400											
FLG2	388698	broad.mit.edu	37	chr1	152329376	152329376	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtgactgacaagaacTtgaagcattttgtggccttc	9	8	1	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:152329376T>G	uc001ezw.3	-	3	959	c.886A>C	c.(886-888)AGT>CGT	p.S296R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	296	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACAAGAACTTGAAGCATTT	0.473													G	152329376	T	G	152329376	3	3	217	1	0	0	0	0	1	0	0	0	5923	1609	56	5	6293	5	FLG2	1	152329376	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	272	152329376	96921245	12	113401											
LCE1C	353133	broad.mit.edu	37	chr1	152777877	152777877	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactttgggggacactttggGgtggggcacttgggagggca	19	7	0	0	rs138242706		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:152777877G>C	uc001fap.1	-	2	129	c.78C>G	c.(76-78)ACC>ACG	p.T26T		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	26	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gacactttggggTGgggcact	0.413													C	152777877	G	C	152777877	2	2	217	1	0	0	0	0	0	0	0	1	8661	1219	43	5		5	LCE1C	1	152777877	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	448501	152777877	96472744	13	113402											
C1orf61	10485	broad.mit.edu	37	chr1	156377704	156377704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggacgcagaggcaccGttctgtacacctggtggaga	15	10	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:156377704G>A	uc001fou.1	-	5	352	c.235C>T	c.(235-237)CGG>TGG	p.R79W	C1orf61_uc001fot.1_5'Flank|C1orf61_uc001fov.1_RNA|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	transcriptional activator of the c-fos promoter	79						nucleus				skin(1)	1	Hepatocellular(266;0.158)					CAGAGGCACCGTTCTGTACAC	0.567													A	156377704	G	A	156377704	3	1	217	1	0	0	0	0	1	0	0	0	2052	1144	40	1	247	1	C1orf61	1	156377704	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	3599827	156377704	92872917	14	113403											
CD1E	913	broad.mit.edu	37	chr1	158324317	158324317	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactcatggctgggacactgTcttgggcaccatccgctttc	11	13	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:158324317T>A	uc001fse.2	+	2	448	c.209T>A	c.(208-210)GTC>GAC	p.V70D	CD1E_uc010pid.1_Missense_Mutation_p.V68D|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.V70D|CD1E_uc001fsk.2_Missense_Mutation_p.V70D|CD1E_uc001fsj.2_Missense_Mutation_p.V70D|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.V70D|CD1E_uc001fry.2_Missense_Mutation_p.V70D|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.V70D|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.V70D|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	70					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TGGGACACTGTCTTGGGCACC	0.532													A	158324317	T	A	158324317	3	1	217	1	0	0	0	0	1	0	0	0	2978	1667	58	5	215	5	CD1E	1	158324317	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	1946613	158324317	90926304	15	113404											
TNN	63923	broad.mit.edu	37	chr1	175048581	175048581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctggcctgccccggggcGtgcagcggccacgggcgttg	19	15	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:175048581G>A	uc001gkl.1	+	3	635	c.522G>A	c.(520-522)GCG>GCA	p.A174A	TNN_uc010pmx.1_Silent_p.A174A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	174	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCCGGGGCGTGCAGCGGCC	0.736													A	175048581	G	A	175048581	2	1	217	1	0	0	0	0	0	0	0	1	16320	1132	40	1		1	TNN	1	175048581	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	16724264	175048581	74202040	16	113405											
CACNA1E	777	broad.mit.edu	37	chr1	181726082	181726082	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcagcactctgtagaTgtgacagaggaagaccgagg	14	8	2	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:181726082T>C	uc001gow.2	+	30	4314	c.4149T>C	c.(4147-4149)GAT>GAC	p.D1383D	CACNA1E_uc009wxs.2_Silent_p.D1271D|CACNA1E_uc001gox.1_Silent_p.D609D|CACNA1E_uc009wxt.2_Silent_p.D609D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1383	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACTCTGTAGATGTGACAGAGG	0.468													C	181726082	T	C	181726082	2	2	217	1	0	0	0	0	0	0	0	1	2542	1461	51	3		3	CACNA1E	1	181726082	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	6677501	181726082	67524539	17	113406											
NMNAT2	23057	broad.mit.edu	37	chr1	183253135	183253135	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtcccactcaccaatcTcttcataccgcatcaccgtg	5	18	4	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:183253135T>C	uc001gqc.1	-	7	904	c.569A>G	c.(568-570)GAG>GGG	p.E190G	NMNAT2_uc001gqb.1_Missense_Mutation_p.E185G|NMNAT2_uc001gqd.2_Missense_Mutation_p.E85G	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	190					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			skin(1)	1						CTCACCAATCTCTTCATACCG	0.527													C	183253135	T	C	183253135	3	2	217	1	0	0	0	0	1	0	0	0	10499	1551	54	3	374	3	NMNAT2	1	183253135	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	1527053	183253135	65997486	18	113407											
HMCN1	83872	broad.mit.edu	37	chr1	186024787	186024787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatgactgacaaaaaAtatgacttaagtgtccatgg	10	6	0	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:186024787A>C	uc001grq.1	+	45	7354	c.7125A>C	c.(7123-7125)AAA>AAC	p.K2375N		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2375	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTGACAAAAAATATGACTTAA	0.423													C	186024787	A	C	186024787	3	2	217	1	0	0	0	0	1	0	0	0	7220	98	4	5	7303	5	HMCN1	1	186024787	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2771652	186024787	63225834	19	113408											
HMCN1	83872	broad.mit.edu	37	chr1	186060048	186060048	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgaaacagaaagaatcCggtatgtttaaaaataatct	9	4	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:186060048C>T	uc001grq.1	+	64	10115	c.9886C>T	c.(9886-9888)CGA>TGA	p.R3296*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3296	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGAAAGAATCCGGTATGTTTA	0.353													T	186060048	C	T	186060048	4	4	217	1	0	0	0	0	0	1	0	0	7220	666	23	1	10140	1	HMCN1	1	186060048	Nonsense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	35261	186060048	63190573	20	113409											
KCNT2	343450	broad.mit.edu	37	chr1	196311337	196311337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacatcttctgccattgTtctggcgattgctggccttc	9	13	3	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:196311337T>G	uc001gtd.1	-	15	1485	c.1425A>C	c.(1423-1425)GAA>GAC	p.E475D	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.E475D|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.E475D|KCNT2_uc001gth.1_5'UTR	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	475	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TCTGCCATTGTTCTGGCGATT	0.323													G	196311337	T	G	196311337	3	3	217	1	0	0	0	0	1	0	0	0	8092	1722	60	5	2038	5	KCNT2	1	196311337	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	10251289	196311337	52939284	21	113410											
CFHR1	3078	broad.mit.edu	37	chr1	196796126	196796126	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacccctcccaaatgcAggtccactggtaagtacaat	8	14	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:196796126A>T	uc001gtn.2	+	3	535	c.421A>T	c.(421-423)AGG>TGG	p.R141W	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	141	Sushi 2.				complement activation	extracellular space					0						TCCCAAATGCAGGTCCACTGG	0.373													T	196796126	A	T	196796126	3	4	217	1	0	0	0	0	1	0	0	0	3284	179	7	5	431	5	CFHR1	1	196796126	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	484789	196796126	52454495	22	113411											
CFHR1	3078	broad.mit.edu	37	chr1	196797212	196797212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactcagacacttcctgtgTgaatccgcccacagtacaaa	6	14	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:196797212T>C	uc001gtn.2	+	4	557	c.443T>C	c.(442-444)GTG>GCG	p.V148A	CFHR1_uc001gtm.2_Missense_Mutation_p.V52A	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	148	Sushi 3.				complement activation	extracellular space					0						ACTTCCTGTGTGAATCCGCCC	0.383													C	196797212	T	C	196797212	3	2	217	1	0	0	0	0	1	0	0	0	3284	1696	59	3	457	3	CFHR1	1	196797212	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	1086	196797212	52453409	23	113412											
CFHR2	3080	broad.mit.edu	37	chr1	196927034	196927034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttagtttctgcagaaaaAtgtgggccccctccacctat	7	11	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:196927034A>C	uc001gtq.1	+	4	521	c.444A>C	c.(442-444)AAA>AAC	p.K148N	CFHR2_uc001gtr.1_Missense_Mutation_p.K24N	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	148	Sushi 3.					extracellular region				skin(2)|ovary(1)	3						CTGCAGAAAAATGTGGGCCCC	0.378													C	196927034	A	C	196927034	3	2	217	1	0	0	0	0	1	0	0	0	3285	98	4	5	458	5	CFHR2	1	196927034	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	129822	196927034	52323587	24	113413											
ZBTB41	360023	broad.mit.edu	37	chr1	197159959	197159959	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgcattttcaggatgaAatctatcagaggaaaagaaa	9	5	3	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:197159959A>T	uc001gtx.1	-	3	1400	c.1331T>A	c.(1330-1332)TTT>TAT	p.F444Y	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	444	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TTCAGGATGAAATCTATCAGA	0.274													T	197159959	A	T	197159959	3	4	217	1	0	0	0	0	1	0	0	0	17540	14	1	5	1430	5	ZBTB41	1	197159959	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	232925	197159959	52090662	25	113414											
KIF14	9928	broad.mit.edu	37	chr1	200569554	200569554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttatttcttgccgacAgagcctgtatcgttcagggt	12	8	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:200569554A>G	uc010ppk.1	-	12	2669	c.2230T>C	c.(2230-2232)TGT>CGT	p.C744R	KIF14_uc010ppj.1_Missense_Mutation_p.C253R	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	744	Potential.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TCTTGCCGACAGAGCCTGTAT	0.393													G	200569554	A	G	200569554	3	3	217	1	0	0	0	0	1	0	0	0	8276	188	7	3	2792	3	KIF14	1	200569554	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	3409595	200569554	48681067	26	113415											
PM20D1	148811	broad.mit.edu	37	chr1	205814505	205814505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatagatgatgccatcaCgctccaacccagagaatggg	10	12	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:205814505C>T	uc001hdj.2	-	3	482	c.437G>A	c.(436-438)CGT>CAT	p.R146H	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	146						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGCCATCACGCTCCAACCC	0.567													T	205814505	C	T	205814505	3	4	217	1	0	0	0	0	1	0	0	0	12128	536	19	1	1115	1	PM20D1	1	205814505	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	5244951	205814505	43436116	27	113416											
USH2A	7399	broad.mit.edu	37	chr1	216369967	216369967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtcataccccacaacTtttcctcttgtaacattatc	3	12	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:216369967T>G	uc001hku.1	-	19	4566	c.4179A>C	c.(4177-4179)AAA>AAC	p.K1393N	USH2A_uc001hkv.2_Missense_Mutation_p.K1393N	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1393	Extracellular (Potential).|Fibronectin type-III 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			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCCACAACTTTTCCTCTTG	0.408										HNSCC(13;0.011)			G	216369967	T	G	216369967	3	3	217	1	0	0	0	0	1	0	0	0	17033	1606	56	5	11659	5	USH2A	1	216369967	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	10555462	216369967	32880654	28	113417											
USH2A	7399	broad.mit.edu	37	chr1	216372990	216372990	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttagttccgctggtggagAccattctacatgaagttctg	10	8	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:216372990A>T	uc001hku.1	-	17	4177	c.3790T>A	c.(3790-3792)TCT>ACT	p.S1264T	USH2A_uc001hkv.2_Missense_Mutation_p.S1264T	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1264	Fibronectin type-III 3.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGGTGGAGACCATTCTACA	0.438										HNSCC(13;0.011)			T	216372990	A	T	216372990	3	4	217	1	0	0	0	0	1	0	0	0	17033	275	10	5	12056	5	USH2A	1	216372990	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	3023	216372990	32877631	29	113418											
TGFB2	7042	broad.mit.edu	37	chr1	218607762	218607762	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattacatcatcccaaataaAagtgaagaactagaagcaag	6	7	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:218607762A>C	uc001hlm.2	+	4	1379	c.726A>C	c.(724-726)AAA>AAC	p.K242N	TGFB2_uc001hln.2_Missense_Mutation_p.K270N|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	242					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TCCCAAATAAAAGTGAAGAAC	0.388													C	218607762	A	C	218607762	3	2	217	1	0	0	0	0	1	0	0	0	15815	11	1	5	828	5	TGFB2	1	218607762	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2234772	218607762	30642859	30	113419											
RYR2	6262	broad.mit.edu	37	chr1	237666672	237666672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttatgaagctgttcTgccaaaagaaaagttgaaag	9	6	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:237666672T>C	uc001hyl.1	+	22	2600	c.2480T>C	c.(2479-2481)CTG>CCG	p.L827P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	827	Cytoplasmic (By similarity).				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GAAGCTGTTCTGCCAAAAGAA	0.488													C	237666672	T	C	237666672	3	2	217	1	0	0	0	0	1	0	0	0	13769	1580	55	3	2566	3	RYR2	1	237666672	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	19058910	237666672	11583949	31	113420											
RYR2	6262	broad.mit.edu	37	chr1	237841399	237841399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttatgaacaagaaatcaAgttctttgcaaaagtacagt	6	8	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:237841399A>C	uc001hyl.1	+	61	9002	c.8882A>C	c.(8881-8883)AAG>ACG	p.K2961T	RYR2_uc010pxz.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2961	Modulator (Potential).|Cytoplasmic (By similarity).				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CAAGAAATCAAGTTCTTTGCA	0.363													C	237841399	A	C	237841399	3	2	217	1	0	0	0	0	1	0	0	0	13769	72	3	5	9124	5	RYR2	1	237841399	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	174727	237841399	11409222	32	113421											
OR13G1	441933	broad.mit.edu	37	chr1	247836046	247836046	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagagaccatgtgaacaAgaagagctgggacatgcagc	12	10	0	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:247836046A>C	uc001idi.1	-	1	298	c.298T>G	c.(298-300)TTG>GTG	p.L100V		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	100	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			CATGTGAACAAGAAGAGCTGG	0.463													C	247836046	A	C	247836046	3	2	217	1	0	0	0	0	1	0	0	0	10942	69	3	5	629	5	OR13G1	1	247836046	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	9994647	247836046	1414575	33	113422											
OR2M4	26245	broad.mit.edu	37	chr1	248402431	248402431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctcagtcaactgtcCcttatggacctcatgctcat	5	15	4	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr1:248402431C>T	uc010pzh.1	+	1	201	c.201C>T	c.(199-201)TCC>TCT	p.S67S		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	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)			GTCAACTGTCCCTTATGGACC	0.463													T	248402431	C	T	248402431	2	4	217	1	0	0	0	0	0	0	0	1	11012	610	22	4		4	OR2M4	1	248402431	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	566385	248402431	848190	34	113423											
NRXN1	9378	broad.mit.edu	37	chr2	50724791	50724791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagataccgtcgttcTgtgatgatgccagtctctat	10	8	2	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:50724791T>C	uc010fbq.2	-	14	4156	c.2679A>G	c.(2677-2679)ACA>ACG	p.T893T	NRXN1_uc002rxb.3_Silent_p.T525T|NRXN1_uc002rxe.3_Silent_p.T853T|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCGTCGTTCTGTGATGATGC	0.408													C	50724791	T	C	50724791	2	2	217	1	0	0	0	0	0	0	0	1	10665	1567	55	3		3	NRXN1	2	50724791	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08		50724791	192474582	35	113424											
CCT4	10575	broad.mit.edu	37	chr2	62106082	62106082	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acaggtcgagacatgtcagtCaagatttcaatgcccttttc	8	10	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:62106082C>A	uc002sbo.2	-	5	593	c.444G>T	c.(442-444)TTG>TTT	p.L148F	CCT4_uc010ypp.1_Missense_Mutation_p.L92F|CCT4_uc010ypq.1_5'UTR|CCT4_uc010ypr.1_Missense_Mutation_p.L92F|CCT4_uc010yps.1_Missense_Mutation_p.L118F	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	148					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	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)			ACATGTCAGTCAAGATTTCAA	0.398													A	62106082	C	A	62106082	3	1	217	1	0	0	0	0	1	0	0	0	2955	825	29	5	1215	5	CCT4	2	62106082	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	11381291	62106082	181093291	36	113425											
MOGS	7841	broad.mit.edu	37	chr2	74689328	74689328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttcggaggaaagccaagtCgtcagggtcaccaacctcta	10	12	3	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:74689328C>T	uc010ffj.2	-	4	1751	c.1588G>A	c.(1588-1590)GAC>AAC	p.D530N	MOGS_uc010ffh.2_Missense_Mutation_p.D255N|MOGS_uc010yrt.1_Missense_Mutation_p.D411N|MOGS_uc010ffi.2_Missense_Mutation_p.D424N	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	530	Lumenal (Potential).				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				0						AAAGCCAAGTCGTCAGGGTCA	0.597													T	74689328	C	T	74689328	3	4	217	1	0	0	0	0	1	0	0	0	9697	884	31	1	929	1	MOGS	2	74689328	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	12583246	74689328	168510045	37	113426											
LIPT1	51601	broad.mit.edu	37	chr2	99778961	99778961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatcaccattgcactttaTtatgtagtactgatgggacg	8	9	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:99778961T>C	uc002szm.3	+	4	881	c.541T>C	c.(541-543)TTA>CTA	p.L181L	MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Silent_p.L181L|LIPT1_uc002szo.3_Silent_p.L181L|LIPT1_uc002szp.3_Silent_p.L181L|LIPT1_uc002szq.3_Silent_p.L181L|MRPL30_uc002szr.2_Intron	NM_145198	NP_660199	Q9Y234	LIPT_HUMAN	lipoyltransferase 1 precursor	181					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity				0					Lipoic Acid(DB00166)	TTGCACTTTATTATGTAGTAC	0.428													C	99778961	T	C	99778961	2	2	217	1	0	0	0	0	0	0	0	1	8829	1490	52	3		3	LIPT1	2	99778961	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	25089633	99778961	143420412	38	113427											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521689	125521689	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagttttcctagaaaatcTtggcattaaagacttcattc	7	8	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:125521689T>G	uc002tno.2	+	16	2859	c.2495T>G	c.(2494-2496)CTT>CGT	p.L832R	CNTNAP5_uc010flu.2_Missense_Mutation_p.L833R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	832	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTAGAAAATCTTGGCATTAAA	0.343													G	125521689	T	G	125521689	3	3	217	1	0	0	0	0	1	0	0	0	3650	1609	56	5	2557	5	CNTNAP5	2	125521689	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	25742728	125521689	117677684	39	113428											
NEB	4703	broad.mit.edu	37	chr2	152512437	152512437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtatttctgatcactgGcatattcagttgctttcttg	10	8	4	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:152512437G>A	uc010fnx.2	-	50	6787	c.6596C>T	c.(6595-6597)GCC>GTC	p.A2199V		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2199	Nebulin 58.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATCACTGGCATATTCAGT	0.463													A	152512437	G	A	152512437	3	1	217	1	0	0	0	0	1	0	0	0	10302	1203	42	2	19622	2	NEB	2	152512437	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	26990748	152512437	90686936	40	113429											
SCN7A	6332	broad.mit.edu	37	chr2	167284375	167284375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctacaatcttgcagcaggTtttcctgatgttctgccaga	8	11	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:167284375T>G	uc002udu.1	-	17	2903	c.2776A>C	c.(2776-2778)ACC>CCC	p.T926P	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	926					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TTGCAGCAGGTTTTCCTGATG	0.448													G	167284375	T	G	167284375	3	3	217	1	0	0	0	0	1	0	0	0	13923	1725	60	5	2308	5	SCN7A	2	167284375	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	14771938	167284375	75914998	41	113430											
SCN7A	6332	broad.mit.edu	37	chr2	167297957	167297957	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaggaatacaccaggaTtggcctgcaacctccataca	7	11	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:167297957T>G	uc002udu.1	-	14	2233	c.2106A>C	c.(2104-2106)CAA>CAC	p.Q702H	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	702					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TACACCAGGATTGGCCTGCAA	0.413													G	167297957	T	G	167297957	3	3	217	1	0	0	0	0	1	0	0	0	13923	1490	52	5	2990	5	SCN7A	2	167297957	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	13582	167297957	75901416	42	113431											
SCN7A	6332	broad.mit.edu	37	chr2	167300144	167300144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatatggatgcattgcaaTtattttaaaaatcatttctg	5	7	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:167300144T>G	uc002udu.1	-	13	1796	c.1669A>C	c.(1669-1671)ATT>CTT	p.I557L	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	557	Helical; Name=S2 of repeat II; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TGCATTGCAATTATTTTAAAA	0.318													G	167300144	T	G	167300144	3	3	217	1	0	0	0	0	1	0	0	0	13923	1493	52	5	3431	5	SCN7A	2	167300144	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	2187	167300144	75899229	43	113432											
XIRP2	129446	broad.mit.edu	37	chr2	168101280	168101280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataagggagatgtcaaaacTtgtacttggctctttgaaac	9	7	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:168101280T>C	uc002udx.2	+	8	3396	c.3378T>C	c.(3376-3378)ACT>ACC	p.T1126T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T951T|XIRP2_uc010fpq.2_Silent_p.T904T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	951	Xin 17.				actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATGTCAAAACTTGTACTTGGC	0.398													C	168101280	T	C	168101280	2	2	217	1	0	0	0	0	0	0	0	1	17427	1596	56	3		3	XIRP2	2	168101280	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	801136	168101280	75098093	44	113433											
ABCB11	8647	broad.mit.edu	37	chr2	169780314	169780314	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgaccctctctggctttgtCtagagcaacctgcaccgtct	8	16	3	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:169780314C>A	uc002ueo.1	-	28	3910	c.3784G>T	c.(3784-3786)GAC>TAC	p.D1262Y	ABCB11_uc010zda.1_Missense_Mutation_p.D680Y|ABCB11_uc010zdb.1_Missense_Mutation_p.D738Y	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1262	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGGCTTTGTCTAGAGCAACC	0.517													A	169780314	C	A	169780314	3	1	217	1	0	0	0	0	1	0	0	0	42	913	32	5	185	5	ABCB11	2	169780314	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	1679034	169780314	73419059	45	113434											
EVX2	344191	broad.mit.edu	37	chr2	176945351	176945351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcgacgaagccgcggcCgccgcgcctgaggctgcagc	17	15	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:176945351C>T	uc010zeu.1	-	3	1101	c.915G>A	c.(913-915)GCG>GCA	p.A305A		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	305	Poly-Ala.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AAgccgcggccgccgcgcctg	0.507													T	176945351	C	T	176945351	2	4	217	1	0	0	0	0	0	0	0	1	5295	639	23	1		1	EVX2	2	176945351	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	7165037	176945351	66254022	46	113435											
TTN	7273	broad.mit.edu	37	chr2	179391989	179391989	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgttagaactttgccttcaTcaatgctgatatcagatgga	8	8	3	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179391989T>A	uc010zfg.1	-	312	100246	c.100022A>T	c.(100021-100023)GAT>GTT	p.D33341V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D27036V|TTN_uc010zfi.1_Missense_Mutation_p.D26969V|TTN_uc010zfj.1_Missense_Mutation_p.D26844V|TTN_uc002umq.2_Missense_Mutation_p.D257V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34268							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCCTTCATCAATGCTGAT	0.398													A	179391989	T	A	179391989	3	1	217	1	0	0	0	0	1	0	0	0	16732	1435	50	5	253	5	TTN	2	179391989	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	2446638	179391989	63807384	47	113436											
TTN	7273	broad.mit.edu	37	chr2	179466402	179466402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacccatgactttaactctgCaatttgcagtcttttgtcct	5	11	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179466402C>A	uc010zfg.1	-	235	47935	c.47711G>T	c.(47710-47712)TGC>TTC	p.C15904F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C9599F|TTN_uc010zfi.1_Missense_Mutation_p.C9532F|TTN_uc010zfj.1_Missense_Mutation_p.C9407F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16831							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAACTCTGCAATTTGCAGT	0.333													A	179466402	C	A	179466402	3	1	217	1	0	0	0	0	1	0	0	0	16732	710	25	5	52586	5	TTN	2	179466402	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	74413	179466402	63732971	48	113437											
TTN	7273	broad.mit.edu	37	chr2	179500379	179500379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatatcacaggcaaaaataGctgtccccttgggtttcaca	7	11	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179500379G>T	uc010zfg.1	-	176	34192	c.33968C>A	c.(33967-33969)GCT>GAT	p.A11323D	TTN_uc010zfh.1_Missense_Mutation_p.A5018D|TTN_uc010zfi.1_Missense_Mutation_p.A4951D|TTN_uc010zfj.1_Missense_Mutation_p.A4826D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12250							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAAAAATAGCTGTCCCCTT	0.373													T	179500379	G	T	179500379	3	4	217	1	0	0	0	0	1	0	0	0	16732	971	34	5	66565	5	TTN	2	179500379	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	33977	179500379	63698994	49	113438											
TTN	7273	broad.mit.edu	37	chr2	179583663	179583663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctcattccaggcaaaacTtccacagaatcaggggtttg	10	10	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179583663T>G	uc010zfg.1	-	81	20756	c.20532A>C	c.(20530-20532)GAA>GAC	p.E6844D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3505D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7771							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCAAAACTTCCACAGAAT	0.478													G	179583663	T	G	179583663	3	3	217	1	0	0	0	0	1	0	0	0	16732	1606	56	5	80381	5	TTN	2	179583663	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	83284	179583663	63615710	50	113439											
TTN	7273	broad.mit.edu	37	chr2	179595679	179595679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaattctagccttgcagcTgctcctcccaacatcatttt	4	13	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179595679T>G	uc010zfg.1	-	57	14205	c.13981A>C	c.(13981-13983)AGC>CGC	p.S4661R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1322R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5588							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTTGCAGCTGCTCCTCCCA	0.363													G	179595679	T	G	179595679	3	3	217	1	0	0	0	0	1	0	0	0	16732	1580	55	5	87028	5	TTN	2	179595679	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	12016	179595679	63603694	51	113440											
TTN	7273	broad.mit.edu	37	chr2	179604391	179604391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagatatttagattcaacTtctggttcagtaatgggttc	8	6	4	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179604391T>C	uc010zfh.1	-	46	13280	c.13056A>G	c.(13054-13056)GAA>GAG	p.E4352E	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.E4285E|TTN_uc010zfj.1_Silent_p.E4160E|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	4278							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGATTCAACTTCTGGTTCAG	0.398													C	179604391	T	C	179604391	2	2	217	1	0	0	0	0	0	0	0	1	16732	1606	56	3		3	TTN	2	179604391	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	8712	179604391	63594982	52	113441											
TTN	7273	broad.mit.edu	37	chr2	179640745	179640745	+	Missense_Mutation	SNP	A	A	C													ttcctggttcatgtacgtgaAactcaggccttggttcagga							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179640745A>C	uc010zfg.1	-	28	6070	c.5846T>G	c.(5845-5847)TTT>TGT	p.F1949C	TTN_uc010zfh.1_Missense_Mutation_p.F1903C|TTN_uc010zfi.1_Missense_Mutation_p.F1903C|TTN_uc010zfj.1_Missense_Mutation_p.F1903C|TTN_uc002unb.2_Missense_Mutation_p.F1949C|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1949							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTACGTGAAACTCAGGCCT	0.428													C	179640745	A	C	179640745	3	2	217	1	0	0	0	0	1	0	0	0	16732	14	1	5	105482	5	TTN	2	179640745	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	36354	179640745	63558628	53	113442	536	2									
TTN	7273	broad.mit.edu	37	chr2	179640748	179640748	+	Missense_Mutation	SNP	T	T	G													ctggttcatgtacgtgaaacTcaggccttggttcaggagct							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179640748T>G	uc010zfg.1	-	28	6067	c.5843A>C	c.(5842-5844)GAG>GCG	p.E1948A	TTN_uc010zfh.1_Missense_Mutation_p.E1902A|TTN_uc010zfi.1_Missense_Mutation_p.E1902A|TTN_uc010zfj.1_Missense_Mutation_p.E1902A|TTN_uc002unb.2_Missense_Mutation_p.E1948A|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1948							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACGTGAAACTCAGGCCTTGG	0.423													G	179640748	T	G	179640748	3	3	217	1	0	0	0	0	1	0	0	0	16732	1551	54	5	105485	5	TTN	2	179640748	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	3	179640748	63558625	54	113443	536	2									
TTN	7273	broad.mit.edu	37	chr2	179643981	179643981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatggatatccagacatcTtgcaatgaaaagtgacaccc	8	9	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:179643981T>C	uc010zfg.1	-	23	4162	c.3938A>G	c.(3937-3939)AAG>AGG	p.K1313R	TTN_uc010zfh.1_Missense_Mutation_p.K1267R|TTN_uc010zfi.1_Missense_Mutation_p.K1267R|TTN_uc010zfj.1_Missense_Mutation_p.K1267R|TTN_uc002unb.2_Missense_Mutation_p.K1313R|uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1313							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGACATCTTGCAATGAAA	0.328													C	179643981	T	C	179643981	3	2	217	1	0	0	0	0	1	0	0	0	16732	1609	56	3	107410	3	TTN	2	179643981	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	3233	179643981	63555392	55	113444											
MAP2	4133	broad.mit.edu	37	chr2	210561456	210561456	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagtctccagagatgaAgtgagaaggaaaaaaggttc	12	6	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:210561456A>C	uc002vde.1	+	8	4619	c.4371A>C	c.(4369-4371)GAA>GAC	p.E1457D	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E1453D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1457	Calmodulin-binding (Potential).				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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CCAGAGATGAAGTGAGAAGGA	0.343													C	210561456	A	C	210561456	3	2	217	1	0	0	0	0	1	0	0	0	9235	69	3	5	4389	5	MAP2	2	210561456	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	30917475	210561456	32637917	56	113445											
ABCA12	26154	broad.mit.edu	37	chr2	215797379	215797379	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagactccatctggtcatcTtgtgagtcaacacttatagt	7	9	4	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:215797379T>C	uc002vew.2	-	53	7987	c.7767A>G	c.(7765-7767)CAA>CAG	p.Q2589Q	ABCA12_uc002vev.2_Silent_p.Q2271Q|ABCA12_uc010zjn.1_Silent_p.Q1516Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2589					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TCTGGTCATCTTGTGAGTCAA	0.433													C	215797379	T	C	215797379	2	2	217	1	0	0	0	0	0	0	0	1	30	1606	56	3		3	ABCA12	2	215797379	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	5235923	215797379	27401994	57	113446											
ABCA12	26154	broad.mit.edu	37	chr2	215840651	215840651	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggataacctgagcaatgaGacctttccagttcctgcggg	12	10	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:215840651G>A	uc002vew.2	-	34	5459	c.5239C>T	c.(5239-5241)CTC>TTC	p.L1747F	ABCA12_uc002vev.2_Missense_Mutation_p.L1429F|ABCA12_uc010zjn.1_Missense_Mutation_p.L674F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1747	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TGAGCAATGAGACCTTTCCAG	0.498													A	215840651	G	A	215840651	3	1	217	1	0	0	0	0	1	0	0	0	30	942	33	4	2628	4	ABCA12	2	215840651	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	43272	215840651	27358722	58	113447											
ACSL3	2181	broad.mit.edu	37	chr2	223773616	223773616	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatacattccgttttaTtttttctccgagtcaagaca	4	9	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:223773616T>G	uc002vni.2	+	4	577	c.126T>G	c.(124-126)TAT>TAG	p.Y42*	ACSL3_uc002vnj.2_Nonsense_Mutation_p.Y42*	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	42	Cytoplasmic (Potential).				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			ovary(2)	2		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)	TTCCGTTTTATTTTTTCTCCG	0.294			T	ETV1	prostate								G	223773616	T	G	223773616	4	3	217	1	0	0	0	0	0	1	0	0	178	1500	52	5	128	5	ACSL3	2	223773616	Nonsense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	7932965	223773616	19425757	59	113448											
DOCK10	55619	broad.mit.edu	37	chr2	225796292	225796292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcactggggaagaacaAgagatcttgaagaggatcat	12	6	4	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:225796292A>C	uc010fwz.1	-	2	456	c.217T>G	c.(217-219)TTG>GTG	p.L73V	DOCK10_uc002vob.2_Missense_Mutation_p.L67V|DOCK10_uc002vod.1_Missense_Mutation_p.L73V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	73							GTP binding			ovary(2)	2		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)		GGGAAGAACAAGAGATCTTGA	0.433													C	225796292	A	C	225796292	3	2	217	1	0	0	0	0	1	0	0	0	4685	69	3	5	6563	5	DOCK10	2	225796292	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2022676	225796292	17403081	60	113449											
PID1	55022	broad.mit.edu	37	chr2	229890475	229890475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcgtgggccagtttcTtggcctcgagcttgctctcg	13	12	3	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:229890475T>C	uc002vpr.3	-	3	664	c.626A>G	c.(625-627)AAG>AGG	p.K209R	PID1_uc002vps.3_Missense_Mutation_p.K207R|PID1_uc002vpt.3_Missense_Mutation_p.K176R|PID1_uc002vpu.3_Missense_Mutation_p.K127R	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	209	PID.					cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGCCAGTTTCTTGGCCTCGAG	0.577													C	229890475	T	C	229890475	3	2	217	1	0	0	0	0	1	0	0	0	11882	1609	56	3	130	3	PID1	2	229890475	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	4094183	229890475	13308898	61	113450											
DNAJB3	414061	broad.mit.edu	37	chr2	234652384	234652384	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatagatatcgcgtttcTtggcgtccgacaacacctcg	10	12	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr2:234652384T>A	uc002vuz.2	-	1	278	c.179A>T	c.(178-180)AAG>ATG	p.K60M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	60	J.				protein folding		heat shock protein binding|unfolded protein binding				0						ATCGCGTTTCTTGGCGTCCGA	0.622													A	234652384	T	A	234652384	3	1	217	1	0	0	0	0	1	0	0	0	4621	1609	56	5	262	5	DNAJB3	2	234652384	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	4761909	234652384	8546989	62	113451											
LRRN1	57633	broad.mit.edu	37	chr3	3886560	3886560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacacaagtgcttctcTtacagagcaataacatcgca	7	11	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:3886560T>C	uc003bpt.3	+	2	996	c.235T>C	c.(235-237)TTA>CTA	p.L79L	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	79	Extracellular (Potential).|LRR 1.					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGTGCTTCTCTTACAGAGCAA	0.433													C	3886560	T	C	3886560	2	2	217	1	0	0	0	0	0	0	0	1	9034	1606	56	3		3	LRRN1	3	3886560	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08		3886560	194135870	63	113452											
LRRC3B	116135	broad.mit.edu	37	chr3	26751365	26751365	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctcctgaaacagtcTtactgtatctggactccaat	5	12	3	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:26751365T>G	uc003cdp.2	+	2	791	c.202T>G	c.(202-204)TTA>GTA	p.L68V	LRRC3B_uc003cdq.2_Missense_Mutation_p.L68V	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	68	LRR 1.					integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						TGAAACAGTCTTACTGTATCT	0.418													G	26751365	T	G	26751365	3	3	217	1	0	0	0	0	1	0	0	0	8996	1606	56	5	204	5	LRRC3B	3	26751365	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	22864805	26751365	171271065	64	113453											
GOLGA4	2803	broad.mit.edu	37	chr3	37365440	37365440	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagcaaacagaactagaatCattatcttctgaactgtcag	7	8	4	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:37365440C>T	uc003cgv.2	+	14	2367	c.2063C>T	c.(2062-2064)TCA>TTA	p.S688L	GOLGA4_uc010hgr.1_Missense_Mutation_p.S249L|GOLGA4_uc003cgw.2_Missense_Mutation_p.S710L|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.S569L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	688	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GAACTAGAATCATTATCTTCT	0.343													T	37365440	C	T	37365440	3	4	217	1	0	0	0	0	1	0	0	0	6555	838	29	4	2187	4	GOLGA4	3	37365440	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	10614075	37365440	160656990	65	113454											
CTNNB1	1499	broad.mit.edu	37	chr3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggactctggaatccattCtggtgccactaccacagctc	8	15	2	0	rs121913403		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:41266113C>T	uc010hia.1	+	4	266	c.110C>T	c.(109-111)TCT>TTT	p.S37F	CTNNB1_uc003ckp.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37F|CTNNB1_uc011azf.1_Missense_Mutation_p.S30F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	37			S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma).		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.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498	S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM)	15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				T	41266113	C	T	41266113	3	4	217	1	0	0	0	0	1	0	0	0	4016	913	32	4	116	4	CTNNB1	3	41266113	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	3900673	41266113	156756317	66	113455											
CTNNB1	1499	broad.mit.edu	37	chr3	41268778	41268778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacgaaaaactactgtggaCcacaagcagagtgctgaagg	11	8	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:41268778C>A	uc010hia.1	+	8	1172	c.1016C>A	c.(1015-1017)ACC>AAC	p.T339N	CTNNB1_uc003ckp.2_Missense_Mutation_p.T339N|CTNNB1_uc003ckq.2_Missense_Mutation_p.T339N|CTNNB1_uc003ckr.2_Missense_Mutation_p.T339N|CTNNB1_uc011azf.1_Missense_Mutation_p.T332N|CTNNB1_uc011azg.1_Missense_Mutation_p.T267N|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	339	ARM 5.				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)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTACTGTGGACCACAAGCAGA	0.383		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41268778	C	A	41268778	3	1	217	1	0	0	0	0	1	0	0	0	4016	507	18	5	1038	5	CTNNB1	3	41268778	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	2665	41268778	156753652	67	113456											
RAD54L2	23132	broad.mit.edu	37	chr3	51673938	51673938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccagactggagtcctagaAaactctcccaagatggtact	8	11	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:51673938A>C	uc011bdt.1	+	13	2279	c.2154A>C	c.(2152-2154)GAA>GAC	p.E718D	RAD54L2_uc003dbh.2_Missense_Mutation_p.E309D|RAD54L2_uc011bdu.1_Missense_Mutation_p.E412D|RAD54L2_uc003dbj.2_Missense_Mutation_p.E44D	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	718						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAGTCCTAGAAAACTCTCCCA	0.453													C	51673938	A	C	51673938	3	2	217	1	0	0	0	0	1	0	0	0	12994	11	1	5	2200	5	RAD54L2	3	51673938	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	10405160	51673938	146348492	68	113457											
OR5H14	403273	broad.mit.edu	37	chr3	97868690	97868690	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatatgtaggtggtcttcTtcatgctttaatccatgaag	9	7	4	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:97868690T>G	uc003dsg.1	+	1	461	c.461T>G	c.(460-462)CTT>CGT	p.L154R		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GGTGGTCTTCTTCATGCTTTA	0.368													G	97868690	T	G	97868690	3	3	217	1	0	0	0	0	1	0	0	0	11160	1609	56	5	463	5	OR5H14	3	97868690	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	46194752	97868690	100153740	69	113458											
ZXDC	79364	broad.mit.edu	37	chr3	126194495	126194495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccaagaaagagtcgcCgtcgctgtcgtcctcggcgg	13	14	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:126194495C>G	uc003eiv.2	-	1	268	c.214G>C	c.(214-216)GGC>CGC	p.G72R	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.G72R	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	72					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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		AAAGAGTCGCCGTCGCTGTCG	0.478													G	126194495	C	G	126194495	3	3	217	1	0	0	0	0	1	0	0	0	18249	652	23	5	2408	5	ZXDC	3	126194495	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	28325805	126194495	71827935	70	113459											
CCRL1	51554	broad.mit.edu	37	chr3	132319585	132319585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaataatgtgcaaaataaCttcagccttgtacacactaa	5	8	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:132319585C>T	uc003eow.2	+	2	427	c.344C>T	c.(343-345)ACT>ATT	p.T115I	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.T115I	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	115	Helical; Name=3; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						TGCAAAATAACTTCAGCCTTG	0.408													T	132319585	C	T	132319585	3	4	217	1	0	0	0	0	1	0	0	0	2949	565	20	4	346	4	CCRL1	3	132319585	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	6125090	132319585	65702845	71	113460											
CLSTN2	64084	broad.mit.edu	37	chr3	140281094	140281094	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggagctcaaccacagtgAgctccaccaacgacacctgg	9	15	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:140281094A>C	uc003etn.2	+	13	2346	c.2156A>C	c.(2155-2157)GAG>GCG	p.E719A		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	719	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						AACCACAGTGAGCTCCACCAA	0.517										HNSCC(16;0.037)			C	140281094	A	C	140281094	3	2	217	1	0	0	0	0	1	0	0	0	3562	304	11	5	2206	5	CLSTN2	3	140281094	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	7961509	140281094	57741336	72	113461											
SI	6476	broad.mit.edu	37	chr3	164758792	164758792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttataaaacagagtgtagaGgaagggtaataaggtgtagc	13	2	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:164758792G>A	uc003fei.2	-	18	2157	c.2095C>T	c.(2095-2097)CTC>TTC	p.L699F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	699	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGAGTGTAGAGGAAGGGTAAT	0.363										HNSCC(35;0.089)			A	164758792	G	A	164758792	3	1	217	1	0	0	0	0	1	0	0	0	14297	1000	35	4	3512	4	SI	3	164758792	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	24477698	164758792	33263638	73	113462											
WDR49	151790	broad.mit.edu	37	chr3	167240189	167240189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttagaaaataaagaAatttccttttgaatctcact	3	9	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:167240189A>C	uc003fev.1	-	12	1938	c.1632T>G	c.(1630-1632)ATT>ATG	p.I544M	WDR49_uc003feu.1_Missense_Mutation_p.I369M|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	544										large_intestine(1)|ovary(1)|skin(1)	3						AAAATAAAGAAATTTCCTTTT	0.313													C	167240189	A	C	167240189	3	2	217	1	0	0	0	0	1	0	0	0	17299	10	1	5	477	5	WDR49	3	167240189	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2481397	167240189	30782241	74	113463											
MUC4	4585	broad.mit.edu	37	chr3	195515821	195515821	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccctgcagtggaggcctcaGagagggtgggatgaaaggtg	18	7	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr3:195515821G>C	uc011bto.1	-	2	3090	c.2630C>G	c.(2629-2631)TCT>TGT	p.S877C	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S759C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	882	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		GGAGGCCTCAGAGAGGGTGGG	0.602													C	195515821	G	C	195515821	3	2	217	1	0	0	0	0	1	0	0	0	9978	942	33	5		5	MUC4	3	195515821	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	28275632	195515821	2506609	75	113464											
SLIT2	9353	broad.mit.edu	37	chr4	20255569	20255569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggactgtcacgggcTggcgctgcgcagcgtgccca	15	14	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr4:20255569T>G	uc003gpr.1	+	1	335	c.131T>G	c.(130-132)CTG>CGG	p.L44R	SLIT2_uc003gps.1_Missense_Mutation_p.L44R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	44	LRRNT.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						TGTCACGGGCTGGCGCTGCGC	0.667													G	20255569	T	G	20255569	3	3	217	1	0	0	0	0	1	0	0	0	14740	1580	55	5	133	5	SLIT2	4	20255569	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08		20255569	170898707	76	113465											
NDST4	64579	broad.mit.edu	37	chr4	115891689	115891689	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggaaaccaccagaacTcatccacagaccgaagtaaa	8	11	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr4:115891689T>G	uc003ibu.2	-	4	1797	c.1118A>C	c.(1117-1119)GAG>GCG	p.E373A	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	373	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCACCAGAACTCATCCACAGA	0.403													G	115891689	T	G	115891689	3	3	217	1	0	0	0	0	1	0	0	0	10258	1551	54	5	1544	5	NDST4	4	115891689	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	95636120	115891689	75262587	77	113466											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005450	118005450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaaagattatgaagatTtctctttcctctttggcgga	8	8	2	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr4:118005450T>G	uc003ibv.3	-	1	1287	c.1100A>C	c.(1099-1101)AAA>ACA	p.K367T		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	367	Cytoplasmic (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						TTATGAAGATTTCTCTTTCCT	0.368													G	118005450	T	G	118005450	3	3	217	1	0	0	0	0	1	0	0	0	16449	1841	64	5	13	5	TRAM1L1	4	118005450	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	2113761	118005450	73148826	78	113467											
QRFPR	84109	broad.mit.edu	37	chr4	122301756	122301756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgtcaggttgtggtccCgcagcagccgagagaactgc	14	14	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr4:122301756C>T	uc010inj.1	-	1	426	c.47G>A	c.(46-48)CGG>CAG	p.R16Q	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.R16Q|QRFPR_uc010inl.1_Missense_Mutation_p.R16Q	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	16	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0						GTTGTGGTCCCGCAGCAGCCG	0.687													T	122301756	C	T	122301756	3	4	217	1	0	0	0	0	1	0	0	0	12878	652	23	1	1272	1	QRFPR	4	122301756	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	4296306	122301756	68852520	79	113468											
INTU	27152	broad.mit.edu	37	chr4	128626767	128626767	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttatttgatatgcagtcatTtgcccaaggatgatcttatt	8	6	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr4:128626767T>A	uc003ifk.1	+	11	1658	c.1588T>A	c.(1588-1590)TTG>ATG	p.L530M	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	530										ovary(1)	1						ATGCAGTCATTTGCCCAAGGA	0.373													A	128626767	T	A	128626767	3	1	217	1	0	0	0	0	1	0	0	0	7786	1838	64	5	1630	5	INTU	4	128626767	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	6325011	128626767	62527509	80	113469											
DCHS2	54798	broad.mit.edu	37	chr4	155250772	155250772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaccgccatggtggcgtttCgtggtggggagccgcggtct	17	10	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr4:155250772C>T	uc003inw.2	-	11	2456	c.2456G>A	c.(2455-2457)CGA>CAA	p.R819Q	DCHS2_uc003inx.2_Missense_Mutation_p.R1274Q	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	819	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGCGTTTCGTGGTGGGGA	0.542													T	155250772	C	T	155250772	3	4	217	1	0	0	0	0	1	0	0	0	4288	884	31	1	6450	1	DCHS2	4	155250772	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	26624005	155250772	35903504	81	113470											
GUCY1B3	2983	broad.mit.edu	37	chr4	156717663	156717663	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttttctatgttcaccaagGtaatcatttttagattaatt	4	6	3	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr4:156717663G>T	uc003ipc.2	+	8	1144	c.977_splice	c.e8+1	p.S326_splice	GUCY1B3_uc011cio.1_Splice_Site_p.S348_splice|GUCY1B3_uc011cip.1_Splice_Site_p.S306_splice|GUCY1B3_uc003ipd.2_Splice_Site_p.S254_splice|GUCY1B3_uc010iqf.2_Splice_Site_p.S326_splice|GUCY1B3_uc010iqg.2_Splice_Site_p.S254_splice|GUCY1B3_uc011ciq.1_Splice_Site_p.S254_splice	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3						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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GTTCACCAAGGTAATCATTTT	0.348													T	156717663	G	T	156717663	5	4	217	1	0	0	0	0	0	0	1	0	6895	1275	44	5	1008	5	GUCY1B3	4	156717663	Splice_Site	SNP	G	TCGA-D7-6822-01A-11D-1882-08	1466891	156717663	34436613	82	113471											
CDH6	1004	broad.mit.edu	37	chr5	31313505	31313505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatttttacatcgaaacTtcttgaccgagaaacactgc	6	10	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:31313505T>G	uc003jhe.1	+	8	1660	c.1334T>G	c.(1333-1335)CTT>CGT	p.L445R	CDH6_uc003jhd.1_Missense_Mutation_p.L445R	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	445	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						ACATCGAAACTTCTTGACCGA	0.403													G	31313505	T	G	31313505	3	3	217	1	0	0	0	0	1	0	0	0	3114	1609	56	5	1360	5	CDH6	5	31313505	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08		31313505	149601755	83	113472											
CCL28	56477	broad.mit.edu	37	chr5	43412389	43412389	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggccgcacagacagccaaGgccacgatggcgagtcctct	13	14	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:43412389G>C	uc003jnu.2	-	1	100	c.30C>G	c.(28-30)GCC>GCG	p.A10A	CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28 precursor	10					chemotaxis|immune response	extracellular space	chemokine activity			ovary(1)|kidney(1)	2						AGACAGCCAAGGCCACGATGG	0.572													C	43412389	G	C	43412389	2	2	217	1	0	0	0	0	0	0	0	1	2900	987	35	5		5	CCL28	5	43412389	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	12098884	43412389	137502871	84	113473											
FGF10	2255	broad.mit.edu	37	chr5	44310564	44310564	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcttgttcatggctaAgtaatagttgctgttaatgg	9	8	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:44310564A>C	uc003jog.1	-	2	394	c.394T>G	c.(394-396)TTA>GTA	p.L132V		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	132					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					TTCATGGCTAAGTAATAGTTG	0.358													C	44310564	A	C	44310564	3	2	217	1	0	0	0	0	1	0	0	0	5839	69	3	5	240	5	FGF10	5	44310564	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	898175	44310564	136604696	85	113474											
DHX29	54505	broad.mit.edu	37	chr5	54585143	54585144	+	Frame_Shift_Ins	INS	-	-	C													gatttttcaaataaattaaaINSattcaatgcactttctcctt							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:54585143_54585144insC	uc003jpx.2	-	8	1140_1141	c.1020_1021insG	c.(1018-1023)AATTTTfs	p.N340fs	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	340_341							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATAAATTAAAATTCAATGCAC	0.347													C	54585144	-	C	54585143	7	5	217	1	0	1	1	0	0	0	0	0	4503	14	1	0	3168	0	DHX29	5	54585143	Frame_Shift_Ins	INS	-	TCGA-D7-6822-01A-11D-1882-08	10274579	54585143	126330117	86	113475	537	2									
DHX29	54505	broad.mit.edu	37	chr5	54585144	54585145	+	Frame_Shift_Ins	INS	-	-	C													atttttcaaataaattaaaaINSttcaatgcactttctccttc							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:54585143_54585144A>AC	uc003jpx.3	-	7	1140_1141	c.1020_1021T>GT	c.(1018-1023)aattttfs	p.N340fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	340							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)				AATAAATTAAAATTCAATGCAC	0.347													C	54585145	-	C	54585144	7	5	217	1	0	1	1	0	0	0	0	0	4503	98	4	0	3169	0	DHX29	5	54585144	Frame_Shift_Ins	INS	-	TCGA-D7-6822-01A-11D-1882-08	1	54585144	126330116	87	113476	537	2									
CAMK4	814	broad.mit.edu	37	chr5	110710585	110710585	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaactgagataggagttcTtcttcgcctctcacatccaa	7	11	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:110710585T>G	uc011cvj.1	+	4	377	c.278T>G	c.(277-279)CTT>CGT	p.L93R	CAMK4_uc003kpf.2_Missense_Mutation_p.L93R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	93	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATAGGAGTTCTTCTTCGCCTC	0.383													G	110710585	T	G	110710585	3	3	217	1	0	0	0	0	1	0	0	0	2605	1609	56	5	288	5	CAMK4	5	110710585	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	56125441	110710585	70204675	88	113477											
FBN2	2201	broad.mit.edu	37	chr5	127873078	127873078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcctcgccggcggacGcggctggccactgcggcacc	15	17	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:127873078G>A	uc003kuu.2	-	1	658	c.219C>T	c.(217-219)CGC>CGT	p.R73R	FBN2_uc003kuv.2_Silent_p.R73R|FBN2_uc003kuw.3_Silent_p.R73R|FBN2_uc003kux.1_Silent_p.R73R	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	73					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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GCCGGCGGACGCGGCTGGCCA	0.697													A	127873078	G	A	127873078	2	1	217	1	0	0	0	0	0	0	0	1	5703	1074	38	1		1	FBN2	5	127873078	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	17162493	127873078	53042182	89	113478											
PCDHB1	29930	broad.mit.edu	37	chr5	140432474	140432474	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggtttttattggcaaAgtccatgctgaggatcttga	11	8	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:140432474A>T	uc003lik.1	+	1	1496	c.1419A>T	c.(1417-1419)AAA>AAT	p.K473N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	473	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATTGGCAAAGTCCATGCTG	0.398													T	140432474	A	T	140432474	3	4	217	1	0	0	0	0	1	0	0	0	11534	69	3	5	1421	5	PCDHB1	5	140432474	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	12559396	140432474	40482786	90	113479											
PCDH1	5097	broad.mit.edu	37	chr5	141244931	141244931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcctcacaacttcgggcGcctggtggaatgtgtattcg	13	11	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:141244931G>A	uc003llq.2	-	3	1082	c.965C>T	c.(964-966)GCG>GTG	p.A322V	PCDH1_uc003llp.2_Missense_Mutation_p.A322V|PCDH1_uc011dbf.1_Missense_Mutation_p.A300V	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	322	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		AACTTCGGGCGCCTGGTGGAA	0.537													A	141244931	G	A	141244931	3	1	217	1	0	0	0	0	1	0	0	0	11506	1087	38	1	2844	1	PCDH1	5	141244931	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	812457	141244931	39670329	91	113480											
RNF145	153830	broad.mit.edu	37	chr5	158588590	158588590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcttttctgaattccTcaaccataaataagacataa	4	10	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:158588590T>G	uc003lxp.2	-	10	1623	c.1310A>C	c.(1309-1311)GAG>GCG	p.E437A	RNF145_uc011ddy.1_Missense_Mutation_p.E451A|RNF145_uc003lxo.1_Missense_Mutation_p.E465A|RNF145_uc011ddz.1_Missense_Mutation_p.E454A|RNF145_uc010jiq.1_Missense_Mutation_p.E467A	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	437						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGAATTCCTCAACCATAAA	0.363													G	158588590	T	G	158588590	3	3	217	1	0	0	0	0	1	0	0	0	13447	1551	54	5	689	5	RNF145	5	158588590	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	17343659	158588590	22326670	92	113481											
GABRA1	2554	broad.mit.edu	37	chr5	161277869	161277869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcctggatcctccttcTgagcacactgactggaagaa	11	11	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:161277869T>C	uc010jiw.2	+	3	521	c.53T>C	c.(52-54)CTG>CCG	p.L18P	GABRA1_uc010jix.2_Missense_Mutation_p.L18P|GABRA1_uc010jiy.2_Missense_Mutation_p.L18P|GABRA1_uc003lyx.3_Missense_Mutation_p.L18P|GABRA1_uc010jiz.2_Missense_Mutation_p.L18P|GABRA1_uc010jja.2_Missense_Mutation_p.L18P|GABRA1_uc010jjb.2_Missense_Mutation_p.L18P	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	18					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			ovary(2)|pancreas(1)	3	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)	ATCCTCCTTCTGAGCACACTG	0.428													C	161277869	T	C	161277869	3	2	217	1	0	0	0	0	1	0	0	0	6160	1580	55	3	55	3	GABRA1	5	161277869	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	2689279	161277869	19637391	93	113482											
GABRA1	2554	broad.mit.edu	37	chr5	161324259	161324259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagaacctaaagaggtcaAgcccgaaacaaaaccaccag	7	12	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr5:161324259A>G	uc010jiw.2	+	11	1670	c.1202A>G	c.(1201-1203)AAG>AGG	p.K401R	GABRA1_uc010jix.2_Missense_Mutation_p.K401R|GABRA1_uc010jiy.2_Missense_Mutation_p.K401R|GABRA1_uc003lyx.3_Missense_Mutation_p.K401R|GABRA1_uc010jiz.2_Missense_Mutation_p.K401R|GABRA1_uc010jja.2_Missense_Mutation_p.K401R|GABRA1_uc010jjb.2_Missense_Mutation_p.K401R	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	401	Cytoplasmic (Probable).				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			ovary(2)|pancreas(1)	3	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)	AAAGAGGTCAAGCCCGAAACA	0.483													G	161324259	A	G	161324259	3	3	217	1	0	0	0	0	1	0	0	0	6160	72	3	3	1236	3	GABRA1	5	161324259	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	46390	161324259	19591001	94	113483											
ALDH5A1	7915	broad.mit.edu	37	chr6	24502805	24502805	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taatgatacaaaataaggatGaccttgccagaataatcaca	6	7	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:24502805G>T	uc003neg.2	+	2	437	c.409G>T	c.(409-411)GAC>TAC	p.D137Y	ALDH5A1_uc003nef.2_Missense_Mutation_p.D137Y	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	137					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	AAATAAGGATGACCTTGCCAG	0.383													T	24502805	G	T	24502805	3	4	217	1	0	0	0	0	1	0	0	0	502	1290	45	5	415	5	ALDH5A1	6	24502805	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08		24502805	146612262	95	113484											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860692	27860692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagtggcgcgggatgAtgcgggtctttttgttgtcg	17	7	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:27860692A>G	uc003nkb.1	-	1	272	c.236T>C	c.(235-237)ATC>ACC	p.I79T	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	79					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						GCGCGGGATGATGCGGGTCTT	0.622													G	27860692	A	G	27860692	3	3	217	1	0	0	0	0	1	0	0	0	7139	333	12	3	160	3	HIST1H2AM	6	27860692	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	3357887	27860692	143254375	96	113485											
OR2J3	442186	broad.mit.edu	37	chr6	29080491	29080491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattctcaagatcaaggcaAgttcattgccctcttttata	5	9	4	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:29080491A>C	uc011dll.1	+	1	824	c.824A>C	c.(823-825)AAG>ACG	p.K275T		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATCAAGGCAAGTTCATTGCC	0.438													C	29080491	A	C	29080491	3	2	217	1	0	0	0	0	1	0	0	0	11004	72	3	5	826	5	OR2J3	6	29080491	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	1219799	29080491	142034576	97	113486											
FGD2	221472	broad.mit.edu	37	chr6	36982750	36982750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctaacaccctgctccGtgagggcccggtcctcaaga	9	18	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:36982750G>A	uc010jwp.1	+	8	1136	c.965G>A	c.(964-966)CGT>CAT	p.R322H	FGD2_uc003ong.2_Missense_Mutation_p.R44H|FGD2_uc011dtv.1_Translation_Start_Site|FGD2_uc003oni.1_Missense_Mutation_p.R128H	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	322	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|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						ACCCTGCTCCGTGAGGGCCCG	0.637													A	36982750	G	A	36982750	3	1	217	1	0	0	0	0	1	0	0	0	5833	1145	40	1	995	1	FGD2	6	36982750	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	7902259	36982750	134132317	98	113487											
TMEM63B	55362	broad.mit.edu	37	chr6	44119697	44119697	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcctgctcatgtacatgatCcggctctgcctggcgcgctc	12	15	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:44119697C>A	uc003owr.2	+	19	1852	c.1788C>A	c.(1786-1788)ATC>ATA	p.I596I	TMEM63B_uc003ows.2_Silent_p.I499I|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	596						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	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)			TGTACATGATCCGGCTCTGCC	0.677											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44119697	C	A	44119697	2	1	217	1	0	0	0	0	0	0	0	1	16188	845	30	5		5	TMEM63B	6	44119697	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	7136947	44119697	126995370	99	113488											
HMGCLL1	54511	broad.mit.edu	37	chr6	55360220	55360220	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagagtacaaaatacctgAagggccgtaaggatatttgc	10	7	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:55360220A>T	uc003pcn.2	-	8	1041	c.882T>A	c.(880-882)CTT>CTA	p.L294L	HMGCLL1_uc003pco.2_Silent_p.L264L|HMGCLL1_uc010jzx.2_Silent_p.L165L|HMGCLL1_uc011dxc.1_Silent_p.L232L|HMGCLL1_uc011dxd.1_Silent_p.L161L|HMGCLL1_uc011dxe.1_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	294							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAATACCTGAAGGGCCGTAA	0.383													T	55360220	A	T	55360220	2	4	217	1	0	0	0	0	0	0	0	1	7230	233	9	5		5	HMGCLL1	6	55360220	Silent	SNP	A	TCGA-D7-6822-01A-11D-1882-08	11240523	55360220	115754847	100	113489											
BMP5	653	broad.mit.edu	37	chr6	55639011	55639011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccctgtcttcccacaAgaccagcagattttacgttg	9	12	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:55639011A>G	uc003pcq.2	-	4	1575	c.863T>C	c.(862-864)CTT>CCT	p.L288P	BMP5_uc011dxf.1_Missense_Mutation_p.L288P	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	288					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTTCCCACAAGACCAGCAGA	0.433													G	55639011	A	G	55639011	3	3	217	1	0	0	0	0	1	0	0	0	1463	72	3	3	517	3	BMP5	6	55639011	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	278791	55639011	115476056	101	113490											
BAI3	577	broad.mit.edu	37	chr6	69666638	69666638	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcagggtgcagtgataAcagggcagcaatgtgaagga	15	7	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:69666638A>C	uc003pev.3	+	8	1910	c.1462A>C	c.(1462-1464)ACA>CCA	p.T488P	BAI3_uc010kak.2_Missense_Mutation_p.T488P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	488	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGCAGTGATAACAGGGCAGCA	0.493													C	69666638	A	C	69666638	3	2	217	1	0	0	0	0	1	0	0	0	1300	43	2	5	1484	5	BAI3	6	69666638	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	14027627	69666638	101448429	102	113491											
OGFRL1	79627	broad.mit.edu	37	chr6	72011128	72011128	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatcactcgtattcttaaAagccttggtgagcttggata	9	7	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:72011128A>C	uc003pfx.1	+	7	895	c.732A>C	c.(730-732)AAA>AAC	p.K244N		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	244						membrane	receptor activity				0						GTATTCTTAAAAGCCTTGGTG	0.378													C	72011128	A	C	72011128	3	2	217	1	0	0	0	0	1	0	0	0	10844	11	1	5	758	5	OGFRL1	6	72011128	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2344490	72011128	99103939	103	113492											
RIMS1	22999	broad.mit.edu	37	chr6	72957723	72957723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctcattttaggttcaAgttcctttgaatctcagaag	6	7	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:72957723A>C	uc003pga.2	+	12	2211	c.2134A>C	c.(2134-2136)AGT>CGT	p.S712R	RIMS1_uc011dyb.1_Missense_Mutation_p.S338R|RIMS1_uc003pgc.2_Missense_Mutation_p.S338R|RIMS1_uc010kaq.2_Missense_Mutation_p.S186R|RIMS1_uc011dyc.1_Missense_Mutation_p.S186R|RIMS1_uc010kar.2_Missense_Mutation_p.S105R|RIMS1_uc011dyd.1_Missense_Mutation_p.S171R|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.S338R|RIMS1_uc010kas.1_Missense_Mutation_p.S171R	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	712					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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTAGGTTCAAGTTCCTTTGA	0.323													C	72957723	A	C	72957723	3	2	217	1	0	0	0	0	1	0	0	0	13367	72	3	5	2343	5	RIMS1	6	72957723	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	946595	72957723	98157344	104	113493											
COL12A1	1303	broad.mit.edu	37	chr6	75818831	75818831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtctttttctataattTcatagcagtcaatgtaaatc	5	6	4	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:75818831T>C	uc003phs.2	-	52	8169	c.8003A>G	c.(8002-8004)GAA>GGA	p.E2668G	COL12A1_uc003pht.2_Missense_Mutation_p.E1504G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2668	TSP N-terminal.|Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTCTATAATTTCATAGCAGTC	0.303													C	75818831	T	C	75818831	3	2	217	1	0	0	0	0	1	0	0	0	3669	1783	62	3	1248	3	COL12A1	6	75818831	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	2861108	75818831	95296236	105	113494											
TTK	7272	broad.mit.edu	37	chr6	80717577	80717596	+	Frame_Shift_Del	DEL	ACTGGTTGAGTTTGTTGCTC	ACTGGTTGAGTTTGTTGCTC	-													gatggcaaacaacccagaggActggttgagtttgttgctca							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:80717577_80717596delACTGGTTGAGTTTGTTGCTC	uc003pjc.2	+	3	265_284	c.191_210delACTGGTTGAGTTTGTTGCTC	c.(190-210)GACTGGTTGAGTTTGTTGCTCfs	p.D64fs	TTK_uc003pjb.3_Frame_Shift_Del_p.D64fs	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	64_70					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			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		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)		AACCCAGAGGACTGGTTGAGTTTGTTGCTCAAACTAGAGA	0.364													-	80717596	ACTGGTTGAGTTTGTTGCTC	-	80717577	7	5	217	1	0	1	0	1	0	0	0	0	16717	275	10	0	197	0	TTK	6	80717577	Frame_Shift_Del	DEL	ACTGGTTGAGTTTGTTGCTC	TCGA-D7-6822-01A-11D-1882-08	4898746	80717577	90397490	106	113495											
MDN1	23195	broad.mit.edu	37	chr6	90425395	90425398	+	Frame_Shift_Del	DEL	CGTG	CGTG	-													aaattgggatttggtgttatCgtgggagtggatccatctat							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:90425394_90425397TCGTG>T	uc003pnn.1	-	44	6951_6954	c.6835_6838CACGA>A	c.(6835-6840)acgatafs	p.T2279fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2279					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)		TTTGGTGTTATCGTGGGAGTGGAT	0.456													-	90425398	CGTG	-	90425395	7	5	217	1	0	1	0	1	0	0	0	0	9415	871	31	0	10185	0	MDN1	6	90425395	Frame_Shift_Del	DEL	CGTG	TCGA-D7-6822-01A-11D-1882-08	9707818	90425395	80689672	107	113496											
MCHR2	84539	broad.mit.edu	37	chr6	100369098	100369098	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcaccatctttgtcaacttCatcactctctgttttggtac	5	12	5	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:100369098C>T	uc003pqh.1	-	6	1056	c.741G>A	c.(739-741)ATG>ATA	p.M247I	MCHR2_uc003pqi.1_Missense_Mutation_p.M247I	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	247	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		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)		TTGTCAACTTCATCACTCTCT	0.448													T	100369098	C	T	100369098	3	4	217	1	0	0	0	0	1	0	0	0	9383	826	29	4	285	4	MCHR2	6	100369098	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	9943703	100369098	70745969	108	113497											
MICAL1	64780	broad.mit.edu	37	chr6	109770864	109770864	+	Frame_Shift_Del	DEL	T	T	-													gtgtcgggggtctgacctgaTtgggggtcactgcccggagg							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:109770863_109770863AT>A	uc011eaq.2	-	9	1779	c.1488_1488AT>T	c.(1486-1488)aatfs	p.N496fs	MICAL1_uc003ptj.3_Frame_Shift_Del_p.N477fs|MICAL1_uc003ptk.3_Frame_Shift_Del_p.N477fs|MICAL1_uc010kdr.3_Frame_Shift_Del_p.N391fs	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	477					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GTCTGACCTGATTGGGGGTCA	0.637													-	109770864	T	-	109770864	7	5	217	1	0	1	0	1	0	0	0	0	9569	1493	52	0	1837	0	MICAL1	6	109770864	Frame_Shift_Del	DEL	T	TCGA-D7-6822-01A-11D-1882-08	9401766	109770864	61344203	109	113498											
KPNA5	3841	broad.mit.edu	37	chr6	117047700	117047700	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctgttttgattgagattCttcagaaagcagagtttcgt	9	6	2	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:117047700C>T	uc003pxh.2	+	12	1299	c.1168C>T	c.(1168-1170)CTT>TTT	p.L390F		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	387	NLS binding site (minor) (By similarity).|ARM 8.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GATTGAGATTCTTCAGAAAGC	0.343													T	117047700	C	T	117047700	3	4	217	1	0	0	0	0	1	0	0	0	8433	913	32	4	1214	4	KPNA5	6	117047700	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	7276836	117047700	54067367	110	113499											
TRDN	10345	broad.mit.edu	37	chr6	123653049	123653049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttagggaagctggaacTttctcttctttccctttaat	6	10	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:123653049T>G	uc003pzj.1	-	23	1468	c.1446A>C	c.(1444-1446)AAA>AAC	p.K482N	TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	482	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		AAGCTGGAACTTTCTCTTCTT	0.328													G	123653049	T	G	123653049	3	3	217	1	0	0	0	0	1	0	0	0	16465	1606	56	5	819	5	TRDN	6	123653049	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	6605349	123653049	47462018	111	113500											
LTV1	84946	broad.mit.edu	37	chr6	144178565	144178565	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataaggcaacaggagaggaaGagggaatggatatacagtat	14	3	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:144178565G>A	uc003qjs.2	+	5	630	c.523G>A	c.(523-525)GAG>AAG	p.E175K	LTV1_uc003qju.1_5'UTR|C6orf94_uc010khj.2_5'UTR	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	175	Asp-rich.									ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGGAGAGGAAGAGGGAATGGA	0.368													A	144178565	G	A	144178565	3	1	217	1	0	0	0	0	1	0	0	0	9081	943	33	4	541	4	LTV1	6	144178565	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	20525516	144178565	26936502	112	113501											
UTRN	7402	broad.mit.edu	37	chr6	145157547	145157547	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatcacacgtctgaggattCagaacttatagcagaagcaa	8	10	3	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:145157547C>T	uc003qkt.2	+	70	10027	c.9935C>T	c.(9934-9936)TCA>TTA	p.S3312L		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3312					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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTGAGGATTCAGAACTTATA	0.517													T	145157547	C	T	145157547	3	4	217	1	0	0	0	0	1	0	0	0	17100	838	29	4	10213	4	UTRN	6	145157547	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	978982	145157547	25957520	113	113502											
SYNE1	23345	broad.mit.edu	37	chr6	152639292	152639292	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagttttcctatcttcTtggccagtggcttacccagt	8	12	3	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr6:152639292T>G	uc010kiw.2	-	86	17098	c.16496A>C	c.(16495-16497)AAG>ACG	p.K5499T	SYNE1_uc010kiv.2_Missense_Mutation_p.K23T|SYNE1_uc003qos.3_Missense_Mutation_p.K23T|SYNE1_uc003qot.3_Missense_Mutation_p.K5428T|SYNE1_uc003qou.3_Missense_Mutation_p.K5499T|SYNE1_uc010kiz.2_Missense_Mutation_p.K1254T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5499	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTATCTTCTTGGCCAGTGG	0.453										HNSCC(10;0.0054)			G	152639292	T	G	152639292	3	3	217	1	0	0	0	0	1	0	0	0	15442	1609	56	5	10214	5	SYNE1	6	152639292	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	7481745	152639292	18475775	114	113503											
ETV1	2115	broad.mit.edu	37	chr7	13950864	13950864	+	Splice_Site	DEL	C	C	-													ttcagtggtggacaacttaaCttctgttctgctgggatgag							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:13950864delC	uc011jxq.1	-	10	1609	c.870_splice	c.e10+1	p.E290_splice	ETV1_uc011jxn.1_Splice_Site_p.E250_splice|ETV1_uc011jxo.1_Splice_Site_p.E187_splice|ETV1_uc011jxp.1_Splice_Site_p.E232_splice|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Splice_Site|ETV1_uc011jxr.1_Splice_Site_p.E272_splice|ETV1_uc011jxs.1_Splice_Site_p.E272_splice|ETV1_uc010ktv.2_Splice_Site_p.E159_splice	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a						transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						GACAACTTAACTTCTGTTCTG	0.383			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								-	13950864	C	-	13950864	8	5	217	1	0	1	0	1	0	0	1	0	5277	579	20	0	582	0	ETV1	7	13950864	Splice_Site	DEL	C	TCGA-D7-6822-01A-11D-1882-08		13950864	145187799	115	113504											
SP4	6671	broad.mit.edu	37	chr7	21516783	21516783	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggaattgctaatgccAcgataggtgctgttagtcct	12	7	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:21516783A>T	uc003sva.2	+	4	1946	c.1765A>T	c.(1765-1767)ACG>TCG	p.T589S	SP4_uc003svb.2_Missense_Mutation_p.T276S	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	589					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TGCTAATGCCACGATAGGTGC	0.473													T	21516783	A	T	21516783	3	4	217	1	0	0	0	0	1	0	0	0	14966	159	6	5	1779	5	SP4	7	21516783	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	7565919	21516783	137621880	116	113505											
CCDC129	223075	broad.mit.edu	37	chr7	31617987	31617987	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacttatttcagactaAcaagctcaagagcttgtctc	8	9	3	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:31617987A>C	uc003tcj.1	+	8	2102	c.1109A>C	c.(1108-1110)AAC>ACC	p.N370T	CCDC129_uc011kad.1_Missense_Mutation_p.N380T|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.N396T|CCDC129_uc003tck.1_Missense_Mutation_p.N278T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	370											0						TTTCAGACTAACAAGCTCAAG	0.507													C	31617987	A	C	31617987	3	2	217	1	0	0	0	0	1	0	0	0	2764	43	2	5	1135	5	CCDC129	7	31617987	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	10101204	31617987	127520676	117	113506											
KBTBD2	25948	broad.mit.edu	37	chr7	32909492	32909492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatttctacccatgagtcaGaccttggaaaataacagtac	6	11	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:32909492G>T	uc003tdb.2	-	4	1996	c.1337C>A	c.(1336-1338)TCT>TAT	p.S446Y	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	446	Kelch 3.										0			GBM - Glioblastoma multiforme(11;0.0499)			CCATGAGTCAGACCTTGGAAA	0.428													T	32909492	G	T	32909492	3	4	217	1	0	0	0	0	1	0	0	0	7993	942	33	5	538	5	KBTBD2	7	32909492	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	1291505	32909492	126229171	118	113507											
KBTBD2	25948	broad.mit.edu	37	chr7	32909937	32909937	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagctggtgggctacataActtgtaaactttttctgctt	8	8	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:32909937A>G	uc003tdb.2	-	4	1551	c.892T>C	c.(892-894)TTA>CTA	p.L298L	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	298											0			GBM - Glioblastoma multiforme(11;0.0499)			GGGCTACATAACTTGTAAACT	0.393													G	32909937	A	G	32909937	2	3	217	1	0	0	0	0	0	0	0	1	7993	40	2	3		3	KBTBD2	7	32909937	Silent	SNP	A	TCGA-D7-6822-01A-11D-1882-08	445	32909937	126228726	119	113508											
AMPH	273	broad.mit.edu	37	chr7	38505774	38505774	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattatcgtcatgactcaccAccgcaatttccttatgaaac	4	12	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:38505774A>T	uc003tgu.2	-	8	734	c.665T>A	c.(664-666)GTG>GAG	p.V222E	AMPH_uc003tgv.2_Missense_Mutation_p.V222E|AMPH_uc003tgt.2_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	222	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						ATGACTCACCACCGCAATTTC	0.358													T	38505774	A	T	38505774	3	4	217	1	0	0	0	0	1	0	0	0	588	173	6	5	1478	5	AMPH	7	38505774	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	5595837	38505774	120632889	120	113509											
COBL	23242	broad.mit.edu	37	chr7	51111178	51111178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtcactgcagtcttcCtggtctgtggcccacttgtc	10	14	3	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:51111178C>T	uc003tpr.3	-	8	1493	c.1308G>A	c.(1306-1308)CAG>CAA	p.Q436Q	COBL_uc003tps.2_Silent_p.Q493Q|COBL_uc011kcl.1_Silent_p.Q436Q|COBL_uc010kzc.2_Silent_p.Q436Q|COBL_uc003tpp.3_Silent_p.Q222Q|COBL_uc003tpq.3_Silent_p.Q377Q	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	436										skin(3)|ovary(2)	5	Glioma(55;0.08)					TGCAGTCTTCCTGGTCTGTGG	0.567													T	51111178	C	T	51111178	2	4	217	1	0	0	0	0	0	0	0	1	3653	680	24	4		4	COBL	7	51111178	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	12605404	51111178	108027485	121	113510											
ZNF92	168374	broad.mit.edu	37	chr7	64863616	64863616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacataagaaaattcatactAgagagtattcttacaaatgt	5	5	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:64863616A>G	uc003ttz.2	+	4	732	c.589A>G	c.(589-591)AGA>GGA	p.R197G	ZNF92_uc003tua.2_Missense_Mutation_p.R128G|ZNF92_uc010kzu.2_Missense_Mutation_p.R165G|ZNF92_uc003tub.2_Missense_Mutation_p.R121G	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	197						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				AATTCATACTAGAGAGTATTC	0.323													G	64863616	A	G	64863616	3	3	217	1	0	0	0	0	1	0	0	0	18198	412	15	3	603	3	ZNF92	7	64863616	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	13752438	64863616	94275047	122	113511											
MAGI2	9863	broad.mit.edu	37	chr7	77789342	77789342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatttcagcacttacTtatagtggatccagactcag	8	9	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:77789342T>G	uc003ugx.2	-	16	3099	c.2845A>C	c.(2845-2847)ACT>CCT	p.T949P	MAGI2_uc003ugy.2_Missense_Mutation_p.T935P|MAGI2_uc010ldx.1_Missense_Mutation_p.T542P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	949	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGCACTTACTTATAGTGGAT	0.463													G	77789342	T	G	77789342	3	3	217	1	0	0	0	0	1	0	0	0	9191	1623	56	5	1550	5	MAGI2	7	77789342	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	12925726	77789342	81349321	123	113512											
HGF	3082	broad.mit.edu	37	chr7	81335016	81335016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttttcaggaattgtgCatccataattaggtaaatca	8	6	3	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:81335016C>T	uc003uhl.2	-	16	1976	c.1811G>A	c.(1810-1812)TGC>TAC	p.C604Y	HGF_uc003uhm.2_Missense_Mutation_p.C599Y	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	604	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			ovary(2)|central_nervous_system(2)	4						AGGAATTGTGCATCCATAATT	0.363													T	81335016	C	T	81335016	3	4	217	1	0	0	0	0	1	0	0	0	7085	710	25	2	387	2	HGF	7	81335016	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	3545674	81335016	77803647	124	113513											
PCLO	27445	broad.mit.edu	37	chr7	82387933	82387933	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaaaagtttgtgccagttGactattctttttctgagatc	7	8	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:82387933G>A	uc003uhx.2	-	25	15676	c.15387C>T	c.(15385-15387)GTC>GTT	p.V5129V		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5052					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGTGCCAGTTGACTATTCTTT	0.388													A	82387933	G	A	82387933	2	1	217	1	0	0	0	0	0	0	0	1	11583	1277	45	4		4	PCLO	7	82387933	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	1052917	82387933	76750730	125	113514											
PCLO	27445	broad.mit.edu	37	chr7	82582534	82582534	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtaataactacataagTttctgtgagggatttggaaa	9	4	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:82582534T>G	uc003uhx.2	-	5	8024	c.7735A>C	c.(7735-7737)ACT>CCT	p.T2579P	PCLO_uc003uhv.2_Missense_Mutation_p.T2579P|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2510					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTACATAAGTTTCTGTGAGG	0.443													G	82582534	T	G	82582534	3	3	217	1	0	0	0	0	1	0	0	0	11583	1725	60	5	7794	5	PCLO	7	82582534	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	194601	82582534	76556129	126	113515											
ZNF804B	219578	broad.mit.edu	37	chr7	88963087	88963087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaactgcagataagtgcaAgtgctgcaggtttgcaaata	10	7	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:88963087A>C	uc011khi.1	+	4	1329	c.791A>C	c.(790-792)AAG>ACG	p.K264T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	264						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAGTGCAAGTGCTGCAGG	0.373										HNSCC(36;0.09)			C	88963087	A	C	88963087	3	2	217	1	0	0	0	0	1	0	0	0	18168	72	3	5	805	5	ZNF804B	7	88963087	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	6380553	88963087	70175576	127	113516											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518368	113518368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaattgcctgctcattagTtgacactgaaatttcagtat	7	8	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:113518368T>C	uc010ljy.1	-	4	2810	c.2779A>G	c.(2779-2781)ACT>GCT	p.T927A		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	927					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TGCTCATTAGTTGACACTGAA	0.378													C	113518368	T	C	113518368	3	2	217	1	0	0	0	0	1	0	0	0	12371	1725	60	3	593	3	PPP1R3A	7	113518368	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	24555281	113518368	45620295	128	113517											
TSPAN12	23554	broad.mit.edu	37	chr7	120446741	120446741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatatactactccacagcaCttaaactgcaaaaaaaatca	2	10	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:120446741C>A	uc003vjk.2	-	7	848	c.474G>T	c.(472-474)AAG>AAT	p.K158N	TSPAN12_uc010lkj.2_Missense_Mutation_p.K31N	NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	158	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					CTCCACAGCACTTAAACTGCA	0.373													A	120446741	C	A	120446741	3	1	217	1	0	0	0	0	1	0	0	0	16633	564	20	5	451	5	TSPAN12	7	120446741	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	6928373	120446741	38691922	129	113518											
DGKI	9162	broad.mit.edu	37	chr7	137170147	137170147	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaactctctgggagccagaAgaaactgactgtaggtccta	11	9	1	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr7:137170147A>T	uc003vtt.2	-	24	2401	c.2400T>A	c.(2398-2400)TCT>TCA	p.S800S	DGKI_uc003vtu.2_Silent_p.S500S	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	800					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			ovary(1)|kidney(1)|skin(1)	3						GGGAGCCAGAAGAAACTGACT	0.368													T	137170147	A	T	137170147	2	4	217	1	0	0	0	0	0	0	0	1	4471	59	3	5		5	DGKI	7	137170147	Silent	SNP	A	TCGA-D7-6822-01A-11D-1882-08	16723406	137170147	21968516	130	113519											
MYOM2	9172	broad.mit.edu	37	chr8	2077170	2077170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaggaatacgacttcaGtgtttcatgaagtattttac	8	7	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:2077170G>A	uc003wpx.3	+	32	3888	c.3750G>A	c.(3748-3750)CAG>CAA	p.Q1250Q	MYOM2_uc011kwi.1_Silent_p.Q675Q	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1250					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		TACGACTTCAGTGTTTCATGA	0.458													A	2077170	G	A	2077170	2	1	217	1	0	0	0	0	0	0	0	1	10092	1020	36	4		4	MYOM2	8	2077170	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08		2077170	144286852	131	113520											
CSMD1	64478	broad.mit.edu	37	chr8	2857642	2857642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatcgggtctggggaacCgcagtggccagctaaaaatg	13	10	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:2857642C>T	uc011kwk.1	-	53	8434	c.8044G>A	c.(8044-8046)GGT>AGT	p.G2682S	CSMD1_uc011kwj.1_Missense_Mutation_p.G2011S|CSMD1_uc010lrg.2_Missense_Mutation_p.G692S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2682	Extracellular (Potential).|Sushi 18.					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)		TCTGGGGAACCGCAGTGGCCA	0.408													T	2857642	C	T	2857642	3	4	217	1	0	0	0	0	1	0	0	0	3944	652	23	1	2725	1	CSMD1	8	2857642	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	780472	2857642	143506380	132	113521											
UNC5D	137970	broad.mit.edu	37	chr8	35606063	35606063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctccagtcagatggctcTgaggtgctcctgagtcctga	12	12	2	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:35606063T>C	uc003xjr.1	+	12	2113	c.1785T>C	c.(1783-1785)TCT>TCC	p.S595S	UNC5D_uc003xjs.1_Silent_p.S590S|UNC5D_uc003xju.1_Silent_p.S171S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	595	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGATGGCTCTGAGGTGCTCC	0.488													C	35606063	T	C	35606063	2	2	217	1	0	0	0	0	0	0	0	1	16992	1567	55	3		3	UNC5D	8	35606063	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	32748421	35606063	110757959	133	113522											
WHSC1L1	54904	broad.mit.edu	37	chr8	38135877	38135877	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atctgctccacagtggcactCcgttctgccgttgcccagac	9	16	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:38135877C>G	uc003xli.2	-	22	4332	c.3814G>C	c.(3814-3816)GAG>CAG	p.E1272Q	WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1261Q|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E1223Q|WHSC1L1_uc003xlh.2_Missense_Mutation_p.E51Q	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1272	Post-SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			CAGTGGCACTCCGTTCTGCCG	0.483			T	NUP98	AML								G	38135877	C	G	38135877	3	3	217	1	0	0	0	0	1	0	0	0	17360	864	30	5	511	5	WHSC1L1	8	38135877	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	2529814	38135877	108228145	134	113523											
ADAM32	203102	broad.mit.edu	37	chr8	39091556	39091556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattgcctcgaacagttccAgatccactggctgtcaaaaa	7	11	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:39091556A>G	uc003xmt.3	+	16	2018	c.1773A>G	c.(1771-1773)CCA>CCG	p.P591P	ADAM32_uc011lch.1_Silent_p.P492P|ADAM32_uc003xmu.3_Silent_p.P485P|ADAM32_uc003xmv.2_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	591	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		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)			GAACAGTTCCAGATCCACTGG	0.313													G	39091556	A	G	39091556	2	3	217	1	0	0	0	0	0	0	0	1	249	175	7	3		3	ADAM32	8	39091556	Silent	SNP	A	TCGA-D7-6822-01A-11D-1882-08	955679	39091556	107272466	135	113524											
KIAA0146	23514	broad.mit.edu	37	chr8	48647875	48647875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttatcactgcagagctacGaagtgaagagtgtcctcgga	11	8	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:48647875G>A	uc003xqd.2	+	20	2620	c.2611G>A	c.(2611-2613)GAA>AAA	p.E871K	KIAA0146_uc011ldc.1_Missense_Mutation_p.E801K|KIAA0146_uc011ldd.1_Missense_Mutation_p.R811Q|KIAA0146_uc003xqe.2_Missense_Mutation_p.E346K|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Silent_p.T503T|KIAA0146_uc011ldf.1_Missense_Mutation_p.E376K|KIAA0146_uc011ldg.1_Missense_Mutation_p.E361K|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	871											0		Lung NSC(58;0.175)				GCAGAGCTACGAAGTGAAGAG	0.517													A	48647875	G	A	48647875	3	1	217	1	0	0	0	0	1	0	0	0	8157	1059	37	1	2689	1	KIAA0146	8	48647875	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	9556319	48647875	97716147	136	113525											
SNAI2	6591	broad.mit.edu	37	chr8	49831428	49831428	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagacattctggagaaggTtttggagcagtttttgcact	13	5	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:49831428T>G	uc003xqp.2	-	3	909	c.745A>C	c.(745-747)ACC>CCC	p.T249P		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	249	C2H2-type 5; atypical.				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CTGGAGAAGGTTTTGGAGCAG	0.458													G	49831428	T	G	49831428	3	3	217	1	0	0	0	0	1	0	0	0	14827	1725	60	5	65	5	SNAI2	8	49831428	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	1183553	49831428	96532594	137	113526											
PXDNL	137902	broad.mit.edu	37	chr8	52321405	52321405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagggctttccggagggagGccaaggaaagcctgtcttca	14	9	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:52321405G>A	uc003xqu.3	-	17	2880	c.2779C>T	c.(2779-2781)CCT>TCT	p.P927S	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	927					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGGAGGGAGGCCAAGGAAAG	0.637													A	52321405	G	A	52321405	3	1	217	1	0	0	0	0	1	0	0	0	12848	1203	42	2	1640	2	PXDNL	8	52321405	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	2489977	52321405	94042617	138	113527											
PRDM14	63978	broad.mit.edu	37	chr8	70970953	70970953	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctcaaaggatcgtttgcaGagagaacagggaaatttcct	10	7	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:70970953G>A	uc003xym.2	-	6	1510	c.1308C>T	c.(1306-1308)CTC>CTT	p.L436L		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	436	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATCGTTTGCAGAGAGAACAGG	0.473													A	70970953	G	A	70970953	2	1	217	1	0	0	0	0	0	0	0	1	12455	929	33	4		4	PRDM14	8	70970953	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	18649548	70970953	75393069	139	113528											
TRPA1	8989	broad.mit.edu	37	chr8	72964896	72964896	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaagtgcaaggtgcaaAaaggaggcctgctgcttgtt	14	6	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:72964896A>C	uc003xza.2	-	14	1924	c.1749T>G	c.(1747-1749)TTT>TTG	p.F583L	uc011lff.1_RNA|uc003xyy.2_RNA	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	583	ANK 15.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CAAGGTGCAAAAAGGAGGCCT	0.493													C	72964896	A	C	72964896	3	2	217	1	0	0	0	0	1	0	0	0	16574	11	1	5	1666	5	TRPA1	8	72964896	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	1993943	72964896	73399126	140	113529											
ZFPM2	23414	broad.mit.edu	37	chr8	106813376	106813376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcaccaacacctgttcTcccatctcactcaagctgcc	3	18	4	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:106813376T>C	uc003ymd.2	+	8	1089	c.1066T>C	c.(1066-1068)TCC>CCC	p.S356P	ZFPM2_uc011lhs.1_Missense_Mutation_p.S87P|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	356	C2H2-type 2.				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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACACCTGTTCTCCCATCTCAC	0.507													C	106813376	T	C	106813376	3	2	217	1	0	0	0	0	1	0	0	0	17655	1551	54	3	1096	3	ZFPM2	8	106813376	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	33848480	106813376	39550646	141	113530											
CSMD3	114788	broad.mit.edu	37	chr8	113243805	113243805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaattgtccataatcTttgccttgaataaatccttg	6	9	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:113243805T>G	uc003ynu.2	-	69	10956	c.10797A>C	c.(10795-10797)AAA>AAC	p.K3599N	CSMD3_uc003yns.2_Missense_Mutation_p.K2801N|CSMD3_uc003ynt.2_Missense_Mutation_p.K3559N|CSMD3_uc011lhx.1_Missense_Mutation_p.K3430N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3599	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTCCATAATCTTTGCCTTGAA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113243805	T	G	113243805	3	3	217	1	0	0	0	0	1	0	0	0	3946	1606	56	5	338	5	CSMD3	8	113243805	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	6430429	113243805	33120217	142	113531											
CSMD3	114788	broad.mit.edu	37	chr8	113563095	113563095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtatcaaaagcaagaaActgcaagctgtgggagaacc	10	9	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:113563095A>G	uc003ynu.2	-	27	4528	c.4369T>C	c.(4369-4371)TTT>CTT	p.F1457L	CSMD3_uc003yns.2_Missense_Mutation_p.F729L|CSMD3_uc003ynt.2_Missense_Mutation_p.F1417L|CSMD3_uc011lhx.1_Missense_Mutation_p.F1353L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1457	Extracellular (Potential).|CUB 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAAGCAAGAAACTGCAAGCTG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113563095	A	G	113563095	3	3	217	1	0	0	0	0	1	0	0	0	3946	43	2	3	6934	3	CSMD3	8	113563095	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	319290	113563095	32800927	143	113532											
CSMD3	114788	broad.mit.edu	37	chr8	113662404	113662404	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattaccatcacaggttggaAgtggatgactccaccagtgg	11	9	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:113662404A>C	uc003ynu.2	-	19	3338	c.3179T>G	c.(3178-3180)CTT>CGT	p.L1060R	CSMD3_uc003yns.2_Missense_Mutation_p.L332R|CSMD3_uc003ynt.2_Missense_Mutation_p.L1020R|CSMD3_uc011lhx.1_Missense_Mutation_p.L956R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1060	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACAGGTTGGAAGTGGATGACT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113662404	A	C	113662404	3	2	217	1	0	0	0	0	1	0	0	0	3946	72	3	5	8156	5	CSMD3	8	113662404	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	99309	113662404	32701618	144	113533											
SLC30A8	169026	broad.mit.edu	37	chr8	118174111	118174111	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgctaattagtgcacTtattatctactttaaggtga	8	6	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:118174111T>G	uc003yoh.2	+	5	937	c.707T>G	c.(706-708)CTT>CGT	p.L236R	SLC30A8_uc010mcz.2_Missense_Mutation_p.L187R|SLC30A8_uc011lia.1_Missense_Mutation_p.L187R|SLC30A8_uc003yog.2_Missense_Mutation_p.L187R	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	236	Helical; (Potential).				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			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATTAGTGCACTTATTATCTAC	0.408													G	118174111	T	G	118174111	3	3	217	1	0	0	0	0	1	0	0	0	14561	1609	56	5	725	5	SLC30A8	8	118174111	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	4511707	118174111	28189911	145	113534											
COL22A1	169044	broad.mit.edu	37	chr8	139715560	139715560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacttacagttccaggtaAcccgggagggcctgcaggac	13	11	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:139715560A>C	uc003yvd.2	-	31	2995	c.2548T>G	c.(2548-2550)TTA>GTA	p.L850V	COL22A1_uc011ljo.1_Missense_Mutation_p.L150V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	850	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			GTTCCAGGTAACCCGGGAGGG	0.468										HNSCC(7;0.00092)			C	139715560	A	C	139715560	3	2	217	1	0	0	0	0	1	0	0	0	3681	40	2	5	2472	5	COL22A1	8	139715560	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	21541449	139715560	6648462	146	113535											
EPPK1	83481	broad.mit.edu	37	chr8	144941902	144941902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgatgccttggttttgCgtctctgtttcttcaattgt	8	8	3	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr8:144941902C>T	uc003zaa.1	-	1	5533	c.5520G>A	c.(5518-5520)ACG>ACA	p.T1840T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1840						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			CTTGGTTTTGCGTCTCTGTTT	0.542													T	144941902	C	T	144941902	2	4	217	1	0	0	0	0	0	0	0	1	5190	755	27	1		1	EPPK1	8	144941902	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	5226342	144941902	1422120	147	113536											
PTPRD	5789	broad.mit.edu	37	chr9	8341911	8341911	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccataaatatctacagtttTttcatgctttattctttcta	3	8	4	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:8341911T>A	uc003zkk.2	-	39	5440	c.4729A>T	c.(4729-4731)AAA>TAA	p.K1577*	PTPRD_uc003zkp.2_Nonsense_Mutation_p.K1171*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.K1170*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.K1161*|PTPRD_uc003zks.2_Nonsense_Mutation_p.K1170*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.K1568*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.K1564*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.K1166*|PTPRD_uc003zko.2_Nonsense_Mutation_p.K1167*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1577	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		TCTACAGTTTTTTCATGCTTT	0.388										TSP Lung(15;0.13)			A	8341911	T	A	8341911	4	1	217	1	0	0	0	0	0	1	0	0	12799	1850	64	5	1037	5	PTPRD	9	8341911	Nonsense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08		8341911	132871520	148	113537											
DNAI1	27019	broad.mit.edu	37	chr9	34517452	34517452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctctcacccaatttgcGcaagatgccaaaggtacagg	9	12	1	1	rs150107677		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:34517452G>A	uc003zum.2	+	19	2181	c.1988G>A	c.(1987-1989)CGC>CAC	p.R663H		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	663	WD 5.				cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCCAATTTGCGCAAGATGCCA	0.443									Kartagener_syndrome				A	34517452	G	A	34517452	3	1	217	1	0	0	0	0	1	0	0	0	4609	1087	38	1	2062	1	DNAI1	9	34517452	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	26175541	34517452	106695979	149	113538											
TMEM2	23670	broad.mit.edu	37	chr9	74319525	74319525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatacttgttgaagttgacGaggtatagaaatgtagtccg	11	5	0	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:74319525G>A	uc011lsa.1	-	18	3720	c.3180C>T	c.(3178-3180)CTC>CTT	p.L1060L	TMEM2_uc011lrz.1_Silent_p.L53L|TMEM2_uc010mos.2_Silent_p.L997L|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1060						integral to membrane				ovary(2)	2		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)		TGAAGTTGACGAGGTATAGAA	0.428													A	74319525	G	A	74319525	2	1	217	1	0	0	0	0	0	0	0	1	16118	1045	37	1		1	TMEM2	9	74319525	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	39802073	74319525	66893906	150	113539											
COL15A1	1306	broad.mit.edu	37	chr9	101818614	101818614	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcctgggccacctggcTttggaagacctggtgatcct	13	12	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:101818614T>A	uc004azb.1	+	35	3471	c.3265T>A	c.(3265-3267)TTT>ATT	p.F1089I		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1089	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GCCACCTGGCTTTGGAAGACC	0.627													A	101818614	T	A	101818614	3	1	217	1	0	0	0	0	1	0	0	0	3672	1609	56	5	3403	5	COL15A1	9	101818614	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	27499089	101818614	39394817	151	113540											
SMC2	10592	broad.mit.edu	37	chr9	106864469	106864469	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaattggaaaaaagaaaaGataaggtctgaacatatgta	9	2	1	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:106864469G>C	uc004bbv.2	+	8	1153	c.865G>C	c.(865-867)GAT>CAT	p.D289H	SMC2_uc004bbu.1_Missense_Mutation_p.D289H|SMC2_uc004bbw.2_Missense_Mutation_p.D289H|SMC2_uc011lvl.1_Missense_Mutation_p.D289H|SMC2_uc010mtg.1_Missense_Mutation_p.D144H|SMC2_uc010mth.1_Missense_Mutation_p.D239H|SMC2_uc004bbx.2_Missense_Mutation_p.D289H	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	289	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						AAAAAGAAAAGATAAGGTCTG	0.269													C	106864469	G	C	106864469	3	2	217	1	0	0	0	0	1	0	0	0	14783	942	33	5	891	5	SMC2	9	106864469	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	5045855	106864469	34348962	152	113541											
TLR4	7099	broad.mit.edu	37	chr9	120474967	120474967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctttccagcaacaagatTcaaagtatttattgcacaga	6	9	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:120474967T>G	uc004bjz.2	+	3	852	c.561T>G	c.(559-561)ATT>ATG	p.I187M	TLR4_uc004bka.2_Missense_Mutation_p.I147M|TLR4_uc004bkb.2_Translation_Start_Site	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	187	Extracellular (Potential).|LRR 6.				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						GCAACAAGATTCAAAGTATTT	0.393													G	120474967	T	G	120474967	3	3	217	1	0	0	0	0	1	0	0	0	15950	1771	62	5	571	5	TLR4	9	120474967	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	13610498	120474967	20738464	153	113542											
DAB2IP	153090	broad.mit.edu	37	chr9	124535628	124535628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccccccaacctgctgAgcaccctgcagtacccaaga	9	18	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:124535628A>C	uc004bln.2	+	12	2806	c.2737A>C	c.(2737-2739)AGC>CGC	p.S913R	DAB2IP_uc004blo.2_Missense_Mutation_p.S817R|DAB2IP_uc004blp.2_Missense_Mutation_p.S346R	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	941	Pro-rich.				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			ovary(1)|central_nervous_system(1)	2						CAACCTGCTGAGCACCCTGCA	0.542													C	124535628	A	C	124535628	3	2	217	1	0	0	0	0	1	0	0	0	4219	304	11	5	2783	5	DAB2IP	9	124535628	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	4060661	124535628	16677803	154	113543											
LMX1B	4010	broad.mit.edu	37	chr9	129455843	129455843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagacgggcctcagtgtgcGcgtggtccaggtctggtttc	16	10	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:129455843G>A	uc004bqj.2	+	5	763	c.713G>A	c.(712-714)CGC>CAC	p.R238H	LMX1B_uc004bqi.2_Missense_Mutation_p.R238H|LMX1B_uc011maa.1_Missense_Mutation_p.R238H	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	238	Homeobox.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTCAGTGTGCGCGTGGTCCAG	0.647									Nail-Patella_Syndrome				A	129455843	G	A	129455843	3	1	217	1	0	0	0	0	1	0	0	0	8862	1087	38	1	800	1	LMX1B	9	129455843	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	4920215	129455843	11757588	155	113544											
TTF1	7270	broad.mit.edu	37	chr9	135277625	135277625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaagccaggactccTcctggtgggattctgactga	11	12	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr9:135277625T>C	uc004cbl.2	-	2	636	c.584A>G	c.(583-585)GAG>GGG	p.E195G	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	195	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCAGGACTCCTCCTGGTGGGA	0.468													C	135277625	T	C	135277625	3	2	217	1	0	0	0	0	1	0	0	0	16715	1551	54	3	2173	3	TTF1	9	135277625	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	5821782	135277625	5935806	156	113545											
FRMD4A	55691	broad.mit.edu	37	chr10	13698746	13698746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgaggaggtggagctgGtgtgcgacaggcggctgtgc	20	8	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:13698746G>A	uc001ims.2	-	22	3195	c.2843C>T	c.(2842-2844)ACC>ATC	p.T948I	FRMD4A_uc009xjf.1_Missense_Mutation_p.T948I	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	948	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						GGTGGAGCTGGTGTGCGACAG	0.677													A	13698746	G	A	13698746	3	1	217	1	0	0	0	0	1	0	0	0	6051	1261	44	4	288	4	FRMD4A	10	13698746	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08		13698746	121836001	157	113546											
ZEB1	6935	broad.mit.edu	37	chr10	31810641	31810641	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaaccagttgtaaatgtaaTcccaccaagtgccaacccca	6	13	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:31810641T>A	uc001ivs.3	+	7	2441	c.2378T>A	c.(2377-2379)ATC>AAC	p.I793N	ZEB1_uc001ivr.3_Missense_Mutation_p.I575N|ZEB1_uc010qee.1_Missense_Mutation_p.I575N|ZEB1_uc010qef.1_Missense_Mutation_p.I575N|ZEB1_uc009xlj.1_Missense_Mutation_p.I719N|ZEB1_uc010qeg.1_Missense_Mutation_p.I652N|ZEB1_uc009xlk.1_Missense_Mutation_p.I575N|ZEB1_uc001ivt.3_Missense_Mutation_p.I575N|ZEB1_uc001ivu.3_Missense_Mutation_p.I794N|ZEB1_uc001ivv.3_Missense_Mutation_p.I773N|ZEB1_uc010qeh.1_Missense_Mutation_p.I726N|ZEB1_uc009xlo.1_Missense_Mutation_p.I776N|ZEB1_uc009xlp.2_Missense_Mutation_p.I777N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	793					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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				GTAAATGTAATCCCACCAAGT	0.453													A	31810641	T	A	31810641	3	1	217	1	0	0	0	0	1	0	0	0	17620	1435	50	5	2418	5	ZEB1	10	31810641	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	18111895	31810641	103724106	158	113547											
ZEB1	6935	broad.mit.edu	37	chr10	31815887	31815887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcacagggcgactcggacGagagagagagtttgacaagg	15	9	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:31815887G>A	uc001ivs.3	+	9	3133	c.3070G>A	c.(3070-3072)GAG>AAG	p.E1024K	ZEB1_uc001ivr.3_Missense_Mutation_p.E806K|ZEB1_uc010qee.1_Missense_Mutation_p.E806K|ZEB1_uc010qef.1_Missense_Mutation_p.E806K|ZEB1_uc001ivt.3_Missense_Mutation_p.E806K|ZEB1_uc001ivu.3_Missense_Mutation_p.E1025K|ZEB1_uc001ivv.3_Missense_Mutation_p.E1004K|ZEB1_uc010qeh.1_Missense_Mutation_p.E957K|ZEB1_uc009xlp.2_Missense_Mutation_p.E1008K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1024	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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CGACTCGGACGAGAGAGAGAG	0.398													A	31815887	G	A	31815887	3	1	217	1	0	0	0	0	1	0	0	0	17620	1059	37	1	3118	1	ZEB1	10	31815887	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	5246	31815887	103718860	159	113548											
KIF5B	3799	broad.mit.edu	37	chr10	32323763	32323763	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgtgttcttaattgttttGgccctaagagatgtaattgg	10	5	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:32323763G>C	uc001iwe.3	-	11	1436	c.966C>G	c.(964-966)GCC>GCG	p.A322A		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	322	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(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				TAATTGTTTTGGCCCTAAGAG	0.303													C	32323763	G	C	32323763	2	2	217	1	0	0	0	0	0	0	0	1	8306	1335	47	5		5	KIF5B	10	32323763	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	507876	32323763	103210984	160	113549											
PRKG1	5592	broad.mit.edu	37	chr10	53667323	53667323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcttgctgatgtccTtgaagaggtaattgttttta	10	6	0	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:53667323T>C	uc001jjm.2	+	5	904	c.710T>C	c.(709-711)CTT>CCT	p.L237P	PRKG1_uc001jjn.2_Missense_Mutation_p.L252P|PRKG1_uc001jjo.2_Missense_Mutation_p.L252P	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	237	cGMP 2.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		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)		GCTGATGTCCTTGAAGAGGTA	0.443													C	53667323	T	C	53667323	3	2	217	1	0	0	0	0	1	0	0	0	12522	1609	56	3	1043	3	PRKG1	10	53667323	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	21343560	53667323	81867424	161	113550											
H2AFY2	55506	broad.mit.edu	37	chr10	71868938	71868938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaagctaaagtccgtcGcgttcccgcctttccccagc	8	16	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:71868938G>A	uc001jqm.2	+	8	1387	c.928G>A	c.(928-930)GCG>ACG	p.A310T	H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	310	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						AAAGTCCGTCGCGTTCCCGCC	0.542													A	71868938	G	A	71868938	3	1	217	1	0	0	0	0	1	0	0	0	6930	1087	38	1	954	1	H2AFY2	10	71868938	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	18201615	71868938	63665809	162	113551											
MYOZ1	58529	broad.mit.edu	37	chr10	75391755	75391755	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtagtctacaggctccccaGagctcagccagggaataggg	13	11	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:75391755G>T	uc001jur.2	-	6	1198	c.833C>A	c.(832-834)TCT>TAT	p.S278Y		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	278					myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					AGGCTCCCCAGAGCTCAGCCA	0.527													T	75391755	G	T	75391755	3	4	217	1	0	0	0	0	1	0	0	0	10095	942	33	5	70	5	MYOZ1	10	75391755	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	3522817	75391755	60142992	163	113552											
POLR3A	11128	broad.mit.edu	37	chr10	79770279	79770279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggttccccattcctcgggGttacaagatttgctttagtc	10	11	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:79770279G>T	uc001jzn.2	-	12	1686	c.1592C>A	c.(1591-1593)ACC>AAC	p.T531N		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	531					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				0	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)			ATTCCTCGGGGTTACAAGATT	0.448													T	79770279	G	T	79770279	3	4	217	1	0	0	0	0	1	0	0	0	12228	1261	44	5	2660	5	POLR3A	10	79770279	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	4378524	79770279	55764468	164	113553											
SH2D4B	387694	broad.mit.edu	37	chr10	82369292	82369292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaacaccaagttcatcGccccctggttccatggtagc	10	13	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:82369292G>A	uc001kck.1	+	6	1400	c.970G>A	c.(970-972)GCC>ACC	p.A324T	SH2D4B_uc001kcl.1_Missense_Mutation_p.A276T|SH2D4B_uc001kcm.1_Missense_Mutation_p.A71T	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	323											0			Colorectal(32;0.229)			CAAGTTCATCGCCCCCTGGTT	0.597													A	82369292	G	A	82369292	3	1	217	1	0	0	0	0	1	0	0	0	14236	1087	38	1	1036	1	SH2D4B	10	82369292	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	2599013	82369292	53165455	165	113554											
GRID1	2894	broad.mit.edu	37	chr10	87362286	87362286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaggtgctgaccgagAgctgggtgttctggtactcc	15	9	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:87362286A>C	uc001kdl.1	-	16	2875	c.2774T>G	c.(2773-2775)CTC>CGC	p.L925R	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.L496R|uc001kdk.1_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	925	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCTGACCGAGAGCTGGGTGTT	0.652										Multiple Myeloma(13;0.14)			C	87362286	A	C	87362286	3	2	217	1	0	0	0	0	1	0	0	0	6771	304	11	5	259	5	GRID1	10	87362286	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	4992994	87362286	48172461	166	113555											
ATRNL1	26033	broad.mit.edu	37	chr10	117026287	117026287	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaataggtccatgtatataTttgggggattttctagtgta	10	3	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:117026287T>A	uc001lcg.2	+	12	2172	c.1786T>A	c.(1786-1788)TTT>ATT	p.F596I		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	596	Kelch 6.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		CATGTATATATTTGGGGGATT	0.313													A	117026287	T	A	117026287	3	1	217	1	0	0	0	0	1	0	0	0	1207	1493	52	5	1832	5	ATRNL1	10	117026287	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	29664001	117026287	18508460	167	113556											
HTRA1	5654	broad.mit.edu	37	chr10	124273782	124273782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccaatgatgtcagcgaCgtcattaaaagggaaagcac	10	10	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:124273782C>T	uc001lgj.2	+	9	1478	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	450	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGTCAGCGACGTCATTAAAA	0.483													T	124273782	C	T	124273782	2	4	217	1	0	0	0	0	0	0	0	1	7453	535	19	1		1	HTRA1	10	124273782	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	7247495	124273782	11260965	168	113557											
CPXM2	119587	broad.mit.edu	37	chr10	125528097	125528097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggggaggacgtgaatcCgcgtctcctccaccaggtgg	17	11	1	1	rs139425659	byFrequency	TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:125528097C>T	uc001lhk.1	-	9	1569	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	415					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		GACGTGAATCCGCGTCTCCTC	0.637													T	125528097	C	T	125528097	3	4	217	1	0	0	0	0	1	0	0	0	3838	652	23	1	1050	1	CPXM2	10	125528097	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	1254315	125528097	10006650	169	113558											
INPP5A	3632	broad.mit.edu	37	chr10	134579334	134579334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagactgtatgaactggacAtctcgttccctcccaggtat	8	12	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr10:134579334A>G	uc001llp.2	+	12	1209	c.961A>G	c.(961-963)ATC>GTC	p.I321V	INPP5A_uc001llo.1_Missense_Mutation_p.I321V|INPP5A_uc001llq.2_Missense_Mutation_p.I216V	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	321					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			skin(1)	1		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)		TGAACTGGACATCTCGTTCCC	0.488													G	134579334	A	G	134579334	3	3	217	1	0	0	0	0	1	0	0	0	7754	217	8	3	1007	3	INPP5A	10	134579334	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	9051237	134579334	955413	170	113559											
ART5	116969	broad.mit.edu	37	chr11	3661431	3661431	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaagccctcgacgcttgtcCtcccaggtctcctgggctgc	11	16	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:3661431C>G	uc001lyb.1	-	2	621	c.228G>C	c.(226-228)GAG>GAC	p.E76D	ART5_uc001lyc.1_Missense_Mutation_p.E76D|ART5_uc001lyd.2_Missense_Mutation_p.E76D|ART5_uc009yea.2_Missense_Mutation_p.E76D	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	76						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACGCTTGTCCTCCCAGGTCT	0.582													G	3661431	C	G	3661431	3	3	217	1	0	0	0	0	1	0	0	0	1000	680	24	5	659	5	ART5	11	3661431	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08		3661431	131345085	171	113560											
NUP98	4928	broad.mit.edu	37	chr11	3716775	3716775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaactgcatggtgagCagctcccggactgactggct	11	14	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:3716775C>T	uc001lyh.2	-	26	4362	c.4071G>A	c.(4069-4071)CTG>CTA	p.L1357L	NUP98_uc001lyi.2_Silent_p.L1357L|NUP98_uc001lyg.2_Silent_p.L322L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1374					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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		GCATGGTGAGCAGCTCCCGGA	0.483			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3716775	C	T	3716775	2	4	217	1	0	0	0	0	0	0	0	1	10773	697	25	2		2	NUP98	11	3716775	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	55344	3716775	131289741	172	113561											
OR51L1	119682	broad.mit.edu	37	chr11	5021135	5021135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctaggaattctccacaAgtttgtcctaaggaggaggt	11	8	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:5021135A>G	uc010qyu.1	+	1	923	c.923A>G	c.(922-924)AAG>AGG	p.K308R		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCTCCACAAGTTTGTCCTA	0.403													G	5021135	A	G	5021135	3	3	217	1	0	0	0	0	1	0	0	0	11102	72	3	3	925	3	OR51L1	11	5021135	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	1304360	5021135	129985381	173	113562											
NLRP10	338322	broad.mit.edu	37	chr11	7982281	7982281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcctcaaagccaggggcCgggtggtgatgagaagggag	18	7	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:7982281C>T	uc001mfv.1	-	2	895	c.878G>A	c.(877-879)CGG>CAG	p.R293Q		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	293	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCAGGGGCCGGGTGGTGAT	0.542													T	7982281	C	T	7982281	3	4	217	1	0	0	0	0	1	0	0	0	10472	652	23	1	1093	1	NLRP10	11	7982281	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	2961146	7982281	127024235	174	113563											
ANO5	203859	broad.mit.edu	37	chr11	22294501	22294501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttggcaagacattcTttatggaatggctgtccttt	11	6	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:22294501T>G	uc001mqi.2	+	19	2518	c.2201T>G	c.(2200-2202)CTT>CGT	p.L734R	ANO5_uc001mqj.2_Missense_Mutation_p.L733R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	734	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CAAGACATTCTTTATGGAATG	0.423													G	22294501	T	G	22294501	3	3	217	1	0	0	0	0	1	0	0	0	700	1609	56	5	2275	5	ANO5	11	22294501	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	14312220	22294501	112712015	175	113564											
MPPED2	744	broad.mit.edu	37	chr11	30516921	30516921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgtttgtcaggagggacTgaacattgtcaaagtcctct	10	8	3	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:30516921T>C	uc001msr.2	-	3	578	c.458A>G	c.(457-459)CAG>CGG	p.Q153R	MPPED2_uc001msq.3_Missense_Mutation_p.Q153R|MPPED2_uc009yji.2_Missense_Mutation_p.Q27R	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	153					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						CAGGAGGGACTGAACATTGTC	0.418													C	30516921	T	C	30516921	3	2	217	1	0	0	0	0	1	0	0	0	9742	1580	55	3	514	3	MPPED2	11	30516921	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	8222420	30516921	104489595	176	113565											
OR5D13	390142	broad.mit.edu	37	chr11	55541616	55541616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatgcgatctgcaagtGggcgccagaaaactttctcc	11	10	2	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:55541616G>T	uc010ril.1	+	1	703	c.703G>T	c.(703-705)GGG>TGG	p.G235W		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				ATCTGCAAGTGGGCGCCAGAA	0.408													T	55541616	G	T	55541616	3	4	217	1	0	0	0	0	1	0	0	0	11154	1348	47	5	705	5	OR5D13	11	55541616	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	25024695	55541616	79464900	177	113566											
OR8H1	219469	broad.mit.edu	37	chr11	56058469	56058469	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtataaagagggccatctGgacctcttcagaatctgaca	9	9	4	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:56058469G>A	uc010rje.1	-	1	70	c.70C>T	c.(70-72)CAG>TAG	p.Q24*		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					AGGGCCATCTGGACCTCTTCA	0.423													A	56058469	G	A	56058469	4	1	217	1	0	0	0	0	0	1	0	0	11237	1357	47	4	867	4	OR8H1	11	56058469	Nonsense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	516853	56058469	78948047	178	113567											
OR8K1	390157	broad.mit.edu	37	chr11	56113852	56113852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctagcattctttgagatttTcatcatctctgagctcttta	6	9	5	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:56113852T>C	uc010rjg.1	+	1	338	c.338T>C	c.(337-339)TTC>TCC	p.F113S		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TTTGAGATTTTCATCATCTCT	0.403										HNSCC(65;0.19)			C	56113852	T	C	56113852	3	2	217	1	0	0	0	0	1	0	0	0	11243	1783	62	3	340	3	OR8K1	11	56113852	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	55383	56113852	78892664	179	113568											
CPSF7	79869	broad.mit.edu	37	chr11	61183777	61183777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggataccaggaggaggaggAgggaccccaaagcttgagga	17	7	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:61183777A>G	uc001nrq.2	-	6	899	c.765T>C	c.(763-765)CCT>CCC	p.P255P	CPSF7_uc001nro.2_Silent_p.P246P|CPSF7_uc001nrp.2_Silent_p.P298P|CPSF7_uc001nrr.2_Silent_p.P246P|CPSF7_uc001nrs.1_Silent_p.P156P	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	pre-mRNA cleavage factor I, 59 kDa subunit	255	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			central_nervous_system(1)	1						GAGGAGGAGGAGGGACCCCAA	0.617													G	61183777	A	G	61183777	2	3	217	1	0	0	0	0	0	0	0	1	3830	291	11	3		3	CPSF7	11	61183777	Silent	SNP	A	TCGA-D7-6822-01A-11D-1882-08	5069925	61183777	73822739	180	113569											
C11orf82	220042	broad.mit.edu	37	chr11	82645281	82645281	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctattcttggacctgattcTtgttcagaagtcaaatgttg	8	8	4	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:82645281T>C	uc001ozt.2	+	6	3145	c.2901T>C	c.(2899-2901)TCT>TCC	p.S967S	C11orf82_uc010rsr.1_Silent_p.S666S|C11orf82_uc010rss.1_Silent_p.S666S|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	967					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						GACCTGATTCTTGTTCAGAAG	0.408													C	82645281	T	C	82645281	2	2	217	1	0	0	0	0	0	0	0	1	1665	1596	56	3		3	C11orf82	11	82645281	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	21461504	82645281	52361235	181	113570											
DLG2	1740	broad.mit.edu	37	chr11	83177774	83177774	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggttccagagacctgggTtttatgaagatggcaatggg	15	5	0	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:83177774T>G	uc001paj.2	-	21	2694	c.2391A>C	c.(2389-2391)AAA>AAC	p.K797N	DLG2_uc001pai.2_Missense_Mutation_p.K676N|DLG2_uc010rsy.1_Missense_Mutation_p.K746N|DLG2_uc010rsz.1_Missense_Mutation_p.K793N|DLG2_uc010rta.1_Missense_Mutation_p.K779N|DLG2_uc001pak.2_Missense_Mutation_p.K902N|DLG2_uc010rtb.1_Missense_Mutation_p.K764N|DLG2_uc010rsw.1_Missense_Mutation_p.K261N|DLG2_uc010rsx.1_Missense_Mutation_p.K274N	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	797	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAGACCTGGGTTTTATGAAGA	0.428													G	83177774	T	G	83177774	3	3	217	1	0	0	0	0	1	0	0	0	4555	1722	60	5	233	5	DLG2	11	83177774	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	532493	83177774	51828742	182	113571											
NAALAD2	10003	broad.mit.edu	37	chr11	89891405	89891405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgcagaaatattattaCggtatagttttcttgttgga	9	3	1	2	rs138601382		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:89891405C>T	uc001pdf.3	+	7	998	c.889C>T	c.(889-891)CGC>TGC	p.R297C	NAALAD2_uc009yvx.2_Missense_Mutation_p.R297W|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.R297W|NAALAD2_uc001pde.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	297	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATATTATTACGGTATAGTTT	0.323													T	89891405	C	T	89891405	3	4	217	1	0	0	0	0	1	0	0	0	10128	550	19	1	915	1	NAALAD2	11	89891405	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	6713631	89891405	45115111	183	113572											
GPR83	10888	broad.mit.edu	37	chr11	94113910	94113910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggctcagggaagtctGgcaggcagagggagcgcaca	17	10	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:94113910G>A	uc001pet.2	-	4	849	c.677C>T	c.(676-678)CCA>CTA	p.P226L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	226	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGGAAGTCTGGCAGGCAGAG	0.567													A	94113910	G	A	94113910	3	1	217	1	0	0	0	0	1	0	0	0	6713	1348	47	4	598	4	GPR83	11	94113910	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	4222505	94113910	40892606	184	113573											
PGR	5241	broad.mit.edu	37	chr11	100920697	100920697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactttcatacagaggaaCtcttcttggctaacttgaag	7	8	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:100920697C>T	uc001pgh.2	-	6	3194	c.2451G>A	c.(2449-2451)GAG>GAA	p.E817E	PGR_uc001pgg.2_Silent_p.E198E|PGR_uc001pgi.2_Silent_p.E715E|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	817	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			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		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)	TACAGAGGAACTCTTCTTGGC	0.358													T	100920697	C	T	100920697	2	4	217	1	0	0	0	0	0	0	0	1	11805	564	20	4		4	PGR	11	100920697	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	6806787	100920697	34085819	185	113574											
ELMOD1	55531	broad.mit.edu	37	chr11	107518203	107518203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctacagttatggaaaTtcttgaagcccaatactcca	5	10	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:107518203T>G	uc010rvs.1	+	7	834	c.430T>G	c.(430-432)TTC>GTC	p.F144V	ELMOD1_uc001pjm.2_Missense_Mutation_p.F144V|ELMOD1_uc010rvt.1_Missense_Mutation_p.F138V	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	144	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GTTATGGAAATTCTTGAAGCC	0.383													G	107518203	T	G	107518203	3	3	217	1	0	0	0	0	1	0	0	0	5068	1493	52	5	452	5	ELMOD1	11	107518203	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	6597506	107518203	27488313	186	113575											
MPZL2	10205	broad.mit.edu	37	chr11	118133693	118133693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaattccaggtcactgTtagagcatcacccacagggg	10	11	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:118133693T>G	uc001psn.2	-	2	319	c.178A>C	c.(178-180)ACA>CCA	p.T60P	MPZL2_uc001pso.2_Missense_Mutation_p.T60P|MPZL2_uc001psp.1_Missense_Mutation_p.T60P	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	60	Extracellular (Potential).|Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	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;3.04e-05)		CAGGTCACTGTTAGAGCATCA	0.458													G	118133693	T	G	118133693	3	3	217	1	0	0	0	0	1	0	0	0	9750	1725	60	5	485	5	MPZL2	11	118133693	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	10615490	118133693	16872823	187	113576											
OR8D1	283159	broad.mit.edu	37	chr11	124179779	124179779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgctttcttcacatccTtattcctcagactgtatatt	3	10	3	1	rs148332664		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr11:124179779T>C	uc010sag.1	-	1	884	c.884A>G	c.(883-885)AAG>AGG	p.K295R		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		CTTCACATCCTTATTCCTCAG	0.423													C	124179779	T	C	124179779	3	2	217	1	0	0	0	0	1	0	0	0	11231	1609	56	3	45	3	OR8D1	11	124179779	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	6046086	124179779	10826737	188	113577											
GPRC5D	55507	broad.mit.edu	37	chr12	13103044	13103044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccccaaagagaaagtagCgtacgggggcagtttgttga	14	7	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:13103044C>T	uc010shp.1	-	1	275	c.275G>A	c.(274-276)CGC>CAC	p.R92H		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5,	92	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAGAAAGTAGCGTACGGGGGC	0.537													T	13103044	C	T	13103044	3	4	217	1	0	0	0	0	1	0	0	0	6727	768	27	1	772	1	GPRC5D	12	13103044	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08		13103044	120748851	189	113578											
ADAMTS20	80070	broad.mit.edu	37	chr12	43771298	43771298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgatggagcttatgtttcTtagtagatgggatctcggtg	14	5	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:43771298T>C	uc010skx.1	-	32	4865	c.4865A>G	c.(4864-4866)AAG>AGG	p.K1622R		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1622	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)		CTTATGTTTCTTAGTAGATGG	0.383													C	43771298	T	C	43771298	3	2	217	1	0	0	0	0	1	0	0	0	266	1609	56	3	898	3	ADAMTS20	12	43771298	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	30668254	43771298	90080597	190	113579											
SARNP	84324	broad.mit.edu	37	chr12	56211464	56211464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtacctttagcttatggaGctccaccgtctcggtcgcca	10	14	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:56211464G>A	uc001sht.2	-	1	77	c.22C>T	c.(22-24)CTC>TTC	p.L8F	SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_Missense_Mutation_p.L8F|ORMDL2_uc001shw.1_5'Flank	NM_033082	NP_149073	P82979	SARNP_HUMAN	cytokine induced protein 29 kDa	8	SAP.				regulation of transcription, DNA-dependent|regulation of translation|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding				0						AGCTTATGGAGCTCCACCGTC	0.577													A	56211464	G	A	56211464	3	1	217	1	0	0	0	0	1	0	0	0	13843	971	34	2	654	2	SARNP	12	56211464	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	12440166	56211464	77640431	191	113580											
ESYT1	23344	broad.mit.edu	37	chr12	56532198	56532198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctccacaggtgctgcaggTgaatagtttgatccagactc	10	12	0	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:56532198T>A	uc001sjq.2	+	22	2398	c.2348T>A	c.(2347-2349)GTG>GAG	p.V783E	ESYT1_uc001sjr.2_Missense_Mutation_p.V793E	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	783						integral to membrane				ovary(4)|skin(1)	5						GTGCTGCAGGTGAATAGTTTG	0.592													A	56532198	T	A	56532198	3	1	217	1	0	0	0	0	1	0	0	0	5264	1696	59	5	2464	5	ESYT1	12	56532198	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	320734	56532198	77319697	192	113581											
SPRYD4	283377	broad.mit.edu	37	chr12	56863084	56863084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgggatagctgcattgGtgttgatgatcgttcctggg	15	8	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:56863084G>T	uc001sli.3	+	2	422	c.347G>T	c.(346-348)GGT>GTT	p.G116V	SPRYD4_uc010sqo.1_Missense_Mutation_p.G104V	NM_207344	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	116	B30.2/SPRY.					nucleus					0						AGCTGCATTGGTGTTGATGAT	0.562													T	56863084	G	T	56863084	3	4	217	1	0	0	0	0	1	0	0	0	15109	1261	44	5	353	5	SPRYD4	12	56863084	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	330886	56863084	76988811	193	113582											
LRP1	4035	broad.mit.edu	37	chr12	57588239	57588239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccagctgggtgtgtgAtggcgccaatgactgtgggg	17	10	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:57588239A>G	uc001snd.2	+	49	8487	c.8021A>G	c.(8020-8022)GAT>GGT	p.D2674G	MIR1228_hsa-mir-1228|MI0006318_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2674	LDL-receptor class A 14.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGGTGTGTGATGGCGCCAAT	0.677													G	57588239	A	G	57588239	3	3	217	1	0	0	0	0	1	0	0	0	8951	333	12	3	8215	3	LRP1	12	57588239	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	725155	57588239	76263656	194	113583											
E2F7	144455	broad.mit.edu	37	chr12	77423789	77423789	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtcatccctctctgaccctGaccctgacgctggtccctcc	7	19	2	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:77423789G>A	uc001sym.3	-	10	1942	c.1706C>T	c.(1705-1707)TCA>TTA	p.S569L	E2F7_uc009zse.2_Missense_Mutation_p.S56L	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	569					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						CTCTGACCCTGACCCTGACGC	0.577													A	77423789	G	A	77423789	3	1	217	1	0	0	0	0	1	0	0	0	4872	1294	45	4	1045	4	E2F7	12	77423789	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	19835550	77423789	56428106	195	113584											
NAV3	89795	broad.mit.edu	37	chr12	78362351	78362351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtttttcagtttatcTcgctacaagcagcaacaaca	8	10	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:78362351T>C	uc001syp.2	+	5	713	c.540T>C	c.(538-540)TCT>TCC	p.S180S	NAV3_uc001syo.2_Silent_p.S180S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	180	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCAGTTTATCTCGCTACAAGC	0.393										HNSCC(70;0.22)			C	78362351	T	C	78362351	2	2	217	1	0	0	0	0	0	0	0	1	10185	1538	54	3		3	NAV3	12	78362351	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	938562	78362351	55489544	196	113585											
C12orf63	374467	broad.mit.edu	37	chr12	97098562	97098562	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacttcttaccagtaaAgaaaatatacaggtaaggat	8	5	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:97098562A>C	uc001tet.1	+	14	1869	c.1791A>C	c.(1789-1791)AAA>AAC	p.K597N		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	597										skin(6)|ovary(1)	7						TTACCAGTAAAGAAAATATAC	0.274													C	97098562	A	C	97098562	3	2	217	1	0	0	0	0	1	0	0	0	1706	69	3	5	1841	5	C12orf63	12	97098562	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	18736211	97098562	36753333	197	113586											
TAOK3	51347	broad.mit.edu	37	chr12	118673381	118673381	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accagtaaggtgtgcccacgAaggagttggcaggagaagcc	15	9	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr12:118673381A>C	uc001twx.2	-	8	828	c.533T>G	c.(532-534)TTC>TGC	p.F178C	TAOK3_uc001tww.2_Missense_Mutation_p.F8C|TAOK3_uc001twy.3_Missense_Mutation_p.F178C	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	178	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTGCCCACGAAGGAGTTGGC	0.403													C	118673381	A	C	118673381	3	2	217	1	0	0	0	0	1	0	0	0	15546	246	9	5	2219	5	TAOK3	12	118673381	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	21574819	118673381	15178514	198	113587											
NBEA	26960	broad.mit.edu	37	chr13	35735957	35735957	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttaggatttcgaggaatgcCaatgactgaggaacagcgac	12	7	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr13:35735957C>G	uc001uvb.2	+	24	4138	c.3932C>G	c.(3931-3933)CCA>CGA	p.P1311R	NBEA_uc010abi.2_Missense_Mutation_p.P2R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1311						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CGAGGAATGCCAATGACTGAG	0.483													G	35735957	C	G	35735957	3	3	217	1	0	0	0	0	1	0	0	0	10187	594	21	5	4022	5	NBEA	13	35735957	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08		35735957	79433921	199	113588											
FOXO1	2308	broad.mit.edu	37	chr13	41134122	41134122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccataggttgacatgacCgaattagggcccatcatgac	10	11	1	3	rs34650827	byFrequency	TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr13:41134122C>T	uc001uxl.3	-	2	1891	c.1506G>A	c.(1504-1506)TCG>TCA	p.S502S	FOXO1_uc010acc.1_Silent_p.S317S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	502					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TTGACATGACCGAATTAGGGC	0.527													T	41134122	C	T	41134122	2	4	217	1	0	0	0	0	0	0	0	1	6023	639	23	1		1	FOXO1	13	41134122	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	5398165	41134122	74035756	200	113589											
SIAH3	283514	broad.mit.edu	37	chr13	46357648	46357648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccccgtccgtaatcaccGagtccacgcactcaagaaca	7	16	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr13:46357648G>A	uc001vap.2	-	2	762	c.680C>T	c.(679-681)TCG>TTG	p.S227L		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	227					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						CGTAATCACCGAGTCCACGCA	0.612													A	46357648	G	A	46357648	3	1	217	1	0	0	0	0	1	0	0	0	14301	1059	37	1	133	1	SIAH3	13	46357648	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	5223526	46357648	68812230	201	113590											
PCDH20	64881	broad.mit.edu	37	chr13	61987191	61987191	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcattggtccccaagtcTttatccacagcctggacagc	9	13	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr13:61987191T>G	uc001vid.3	-	2	1405	c.1041A>C	c.(1039-1041)AAA>AAC	p.K347N	PCDH20_uc010thj.1_Missense_Mutation_p.K347N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	320	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCCCCAAGTCTTTATCCACAG	0.428													G	61987191	T	G	61987191	3	3	217	1	0	0	0	0	1	0	0	0	11515	1606	56	5	1818	5	PCDH20	13	61987191	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	15629543	61987191	53182687	202	113591											
SLITRK1	114798	broad.mit.edu	37	chr13	84453706	84453706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtctcttggaccgctttCggttcctcaggataaacacg	9	13	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr13:84453706C>T	uc001vlk.2	-	1	2823	c.1937G>A	c.(1936-1938)CGA>CAA	p.R646Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	646	Cytoplasmic (Potential).					integral to membrane		p.R646*(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGACCGCTTTCGGTTCCTCAG	0.562													T	84453706	C	T	84453706	3	4	217	1	0	0	0	0	1	0	0	0	14742	884	31	1	157	1	SLITRK1	13	84453706	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	22466515	84453706	30716172	203	113592											
SLITRK1	114798	broad.mit.edu	37	chr13	84455053	84455053	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccagggatttgctccaagAcctcctcatagggcagcgtt	10	12	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr13:84455053A>C	uc001vlk.2	-	1	1476	c.590T>G	c.(589-591)GTC>GGC	p.V197G		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	197	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGCTCCAAGACCTCCTCATA	0.532													C	84455053	A	C	84455053	3	2	217	1	0	0	0	0	1	0	0	0	14742	275	10	5	1504	5	SLITRK1	13	84455053	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	1347	84455053	30714825	204	113593											
COL4A1	1282	broad.mit.edu	37	chr13	110822922	110822922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctggccctgaggtccGcggtctcctttgggcccctc	13	17	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr13:110822922G>A	uc001vqw.3	-	42	3836	c.3714C>T	c.(3712-3714)CGC>CGT	p.R1238R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1238	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			CCTGAGGTCCGCGGTCTCCTT	0.632													A	110822922	G	A	110822922	2	1	217	1	0	0	0	0	0	0	0	1	3689	1074	38	1		1	COL4A1	13	110822922	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	26367869	110822922	4346956	205	113594											
SLC7A8	23428	broad.mit.edu	37	chr14	23634555	23634555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagcaggtggggaagagCggctgcagcacgtagttgga	20	6	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr14:23634555C>T	uc001wiz.2	-	3	1173	c.447G>A	c.(445-447)CCG>CCA	p.P149P	SLC7A8_uc010akj.2_Silent_p.P149P	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	149					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			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGGGGAAGAGCGGCTGCAGCA	0.582													T	23634555	C	T	23634555	2	4	217	1	0	0	0	0	0	0	0	1	14704	755	27	1		1	SLC7A8	14	23634555	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08		23634555	83714985	206	113595											
SLC22A17	51310	broad.mit.edu	37	chr14	23816789	23816789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagagaagaaggatgcCccggcggccaaatcggtcca	14	11	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr14:23816789C>T	uc001wjl.2	-	7	1152	c.1096G>A	c.(1096-1098)GGC>AGC	p.G366S	SLC22A17_uc010akk.2_Missense_Mutation_p.G148S|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.G366S	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	366	Helical; (Potential).				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAAGGATGCCCCGGCGGCCA	0.627													T	23816789	C	T	23816789	3	4	217	1	0	0	0	0	1	0	0	0	14448	623	22	4	532	4	SLC22A17	14	23816789	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	182234	23816789	83532751	207	113596											
FAM179B	23116	broad.mit.edu	37	chr14	45432289	45432289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagaacgcttatacaacaagGactggaaagtaccgatgccc	10	10	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr14:45432289G>C	uc001wvv.2	+	1	874	c.665G>C	c.(664-666)GGA>GCA	p.G222A	FAM179B_uc001wvw.2_Missense_Mutation_p.G222A|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.G222A|FAM179B_uc001wvu.2_Missense_Mutation_p.G222A	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	222							binding			skin(2)|upper_aerodigestive_tract(1)	3						ATACAACAAGGACTGGAAAGT	0.507													C	45432289	G	C	45432289	3	2	217	1	0	0	0	0	1	0	0	0	5506	1174	41	5	667	5	FAM179B	14	45432289	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	21615500	45432289	61917251	208	113597											
YLPM1	56252	broad.mit.edu	37	chr14	75296047	75296047	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcctgggaagaagaggGtaagagactttgtcaataac	13	6	1	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr14:75296047G>A	uc001xqj.3	+	19	6418	c.6294_splice	c.e19+1	p.R2098_splice	YLPM1_uc001xql.3_Splice_Site	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAGAAGAGGGTAAGAGACTT	0.453													A	75296047	G	A	75296047	5	1	217	1	0	0	0	0	0	0	1	0	17483	1275	44	4	6369	4	YLPM1	14	75296047	Splice_Site	SNP	G	TCGA-D7-6822-01A-11D-1882-08	29863758	75296047	32053493	209	113598											
NRXN3	9369	broad.mit.edu	37	chr14	79117589	79117589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctcggacgacttcTtctatgtaggaggaagccca	13	10	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr14:79117589T>G	uc001xun.2	+	3	513	c.22T>G	c.(22-24)TTC>GTC	p.F8V	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.F142V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	381	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGACGACTTCTTCTATGTAGG	0.522													G	79117589	T	G	79117589	3	3	217	1	0	0	0	0	1	0	0	0	10667	1609	56	5	24	5	NRXN3	14	79117589	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	3821542	79117589	28231951	210	113599											
PAPOLA	10914	broad.mit.edu	37	chr14	97000859	97000859	+	Frame_Shift_Del	DEL	C	C	-													atccagtgctattgaaacagCctgaagaatgcaatcttaat							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr14:97000858_97000858GC>G	uc001yfq.3	+	9	1084	c.867_867GC>G	c.(865-867)cagfs	p.Q289fs	PAPOLA_uc001yfp.3_3'UTR|PAPOLA_uc001yfo.3_3'UTR|PAPOLA_uc001yfr.3_Frame_Shift_Del_p.Q289fs|PAPOLA_uc010twv.2_Frame_Shift_Del_p.Q289fs|PAPOLA_uc010avp.3_Frame_Shift_Del_p.Q39fs	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	289					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TATTGAAACAGCCTGAAGAAT	0.348													-	97000859	C	-	97000859	7	5	217	1	0	1	0	1	0	0	0	0	11429	739	26	0	906	0	PAPOLA	14	97000859	Frame_Shift_Del	DEL	C	TCGA-D7-6822-01A-11D-1882-08	17883270	97000859	10348681	211	113600											
RYR3	6263	broad.mit.edu	37	chr15	33916158	33916158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgatggcattagagaTctcttgggtaccacccagtt	11	9	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr15:33916158T>A	uc001zhi.2	+	20	2578	c.2508T>A	c.(2506-2508)GAT>GAA	p.D836E	RYR3_uc010bar.2_Missense_Mutation_p.D836E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	836	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GCATTAGAGATCTCTTGGGTA	0.488													A	33916158	T	A	33916158	3	1	217	1	0	0	0	0	1	0	0	0	13770	1432	50	5	2586	5	RYR3	15	33916158	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08		33916158	68615234	212	113601											
BNC1	646	broad.mit.edu	37	chr15	83933195	83933195	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggtcctgactttggtcatGaccctgctccaacatatatt	9	11	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr15:83933195G>A	uc002bjt.1	-	4	896	c.808C>T	c.(808-810)CAT>TAT	p.H270Y	BNC1_uc010uos.1_Missense_Mutation_p.H258Y	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	270					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTTTGGTCATGACCCTGCTCC	0.483													A	83933195	G	A	83933195	3	1	217	1	0	0	0	0	1	0	0	0	1474	1290	45	4	2184	4	BNC1	15	83933195	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	50017037	83933195	18598197	213	113602											
ADAMTS17	170691	broad.mit.edu	37	chr15	100537680	100537680	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggggcccgggcagtagagGggccgcgtagcgacgtgtgt	21	10	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr15:100537680G>C	uc002bvv.1	-	19	2785	c.2706C>G	c.(2704-2706)CCC>CCG	p.P902P		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	902	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ggcAGTAGAGGGGCCGCGTAG	0.572													C	100537680	G	C	100537680	2	2	217	1	0	0	0	0	0	0	0	1	262	1219	43	5		5	ADAMTS17	15	100537680	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	16604485	100537680	1993712	214	113603											
PDZD9	255762	broad.mit.edu	37	chr16	21995670	21995670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatgcatctgaggtagagGaggtagaggaggaagagctt	16	3	1	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr16:21995670G>A	uc002dka.1	-	5	844	c.527C>T	c.(526-528)TCC>TTC	p.S176F		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	238										pancreas(1)	1						TGAGGTAGAGGAGGTAGAGGA	0.463													A	21995670	G	A	21995670	3	1	217	1	0	0	0	0	1	0	0	0	11706	1174	41	4	85	4	PDZD9	16	21995670	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08		21995670	68359083	215	113604											
HS3ST4	9951	broad.mit.edu	37	chr16	26147171	26147171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggaccctcgggctgatcGatgcttcctggagtgccatt	12	13	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr16:26147171G>A	uc002dof.2	+	2	1365	c.973G>A	c.(973-975)GAT>AAT	p.D325N		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	325	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		CGGGCTGATCGATGCTTCCTG	0.542													A	26147171	G	A	26147171	3	1	217	1	0	0	0	0	1	0	0	0	7367	1058	37	1	979	1	HS3ST4	16	26147171	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	4151501	26147171	64207582	216	113605											
ITGAM	3684	broad.mit.edu	37	chr16	31336626	31336626	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggccccgggagttcaacgtGacagtgactgtgagaaatga	15	8	1	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr16:31336626G>C	uc002ebq.2	+	20	2504	c.2406G>C	c.(2404-2406)GTG>GTC	p.V802V	ITGAM_uc002ebr.2_Silent_p.V803V|ITGAM_uc010can.2_Silent_p.V208V|ITGAM_uc002ebs.1_Silent_p.V208V|ITGAM_uc010vfj.1_RNA	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	802	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						AGTTCAACGTGACAGTGACTG	0.617													C	31336626	G	C	31336626	2	2	217	1	0	0	0	0	0	0	0	1	7887	1277	45	5		5	ITGAM	16	31336626	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	5189455	31336626	59018127	217	113606											
CBLN1	869	broad.mit.edu	37	chr16	49313480	49313480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccagcgaaggctgaAatcaccggccacccgtttag	11	13	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr16:49313480A>C	uc002efq.2	-	3	756	c.417T>G	c.(415-417)ATT>ATG	p.I139M		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	139	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				CGAAGGCTGAAATCACCGGCC	0.612													C	49313480	A	C	49313480	3	2	217	1	0	0	0	0	1	0	0	0	2704	10	1	5	168	5	CBLN1	16	49313480	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	17976854	49313480	41041273	218	113607											
CNOT1	23019	broad.mit.edu	37	chr16	58572769	58572769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcattccctgtagcgcagcAgaaggtcagcatcagcacca	11	13	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr16:58572769A>G	uc002env.2	-	36	5335	c.5042T>C	c.(5041-5043)CTG>CCG	p.L1681P	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.L1676P|CNOT1_uc010vik.1_Missense_Mutation_p.L638P	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1681					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTAGCGCAGCAGAAGGTCAGC	0.507													G	58572769	A	G	58572769	3	3	217	1	0	0	0	0	1	0	0	0	3617	188	7	3	2144	3	CNOT1	16	58572769	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	9259289	58572769	31781984	219	113608											
CDH11	1009	broad.mit.edu	37	chr16	65016134	65016134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggccattgctgataaacTtcgggtcgatgtgcacgttg	13	8	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr16:65016134T>G	uc002eoi.2	-	8	1504	c.1070A>C	c.(1069-1071)AAG>ACG	p.K357T	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K357T|CDH11_uc010vin.1_Missense_Mutation_p.K231T|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	357	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTGATAAACTTCGGGTCGAT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65016134	T	G	65016134	3	3	217	1	0	0	0	0	1	0	0	0	3097	1609	56	5	1344	5	CDH11	16	65016134	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	6443365	65016134	25338619	220	113609											
CBFB	865	broad.mit.edu	37	chr16	67063330	67063330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccgcgcgtcgtgcccgAccagagaagcaagttcgaga	14	12	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr16:67063330A>C	uc002era.2	+	1	281	c.20A>C	c.(19-21)GAC>GCC	p.D7A	CBFB_uc002erb.2_Missense_Mutation_p.D7A|CBFB_uc010vja.1_Missense_Mutation_p.D7A	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2	7					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTCGTGCCCGACCAGAGAAGC	0.622			T	MYH11	AML								C	67063330	A	C	67063330	3	2	217	1	0	0	0	0	1	0	0	0	2699	275	10	5	22	5	CBFB	16	67063330	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2047196	67063330	23291423	221	113610											
ZFP3	124961	broad.mit.edu	37	chr17	4995828	4995828	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgaatgtaatgaatgtggGaaaacttttggccagaactc	10	5	0	3	rs146498999		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:4995828G>A	uc002gaq.2	+	2	1154	c.1029G>A	c.(1027-1029)GGG>GGA	p.G343G		NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	zinc finger protein-3	343	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGAATGTGGGAAAACTTTTG	0.438													A	4995828	G	A	4995828	2	1	217	1	0	0	0	0	0	0	0	1	17640	1161	41	4		4	ZFP3	17	4995828	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08		4995828	76199382	222	113611											
TP53	7157	broad.mit.edu	37	chr17	7577087	7577087	+	Frame_Shift_Del	DEL	G	G	-													tgcggagattctcttcctctGtgcgccggtctctcccagga							TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:7577087delG	uc002gim.2	-	8	1045	c.851delC	c.(850-852)ACAfs	p.T284fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.T284fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.T152fs|TP53_uc010cng.1_Frame_Shift_Del_p.T152fs|TP53_uc002gii.1_Frame_Shift_Del_p.T152fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T284fs|TP53_uc010cni.1_Frame_Shift_Del_p.T284fs|TP53_uc002gij.2_Frame_Shift_Del_p.T284fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	284	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.T284P(7)|p.T284fs*61(3)|p.T284T(3)|p.T284A(3)|p.?(2)|p.T284fs*21(2)|p.T284fs*62(2)|p.R283fs*16(2)|p.T284I(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.R283fs*59(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CTCTTCCTCTGTGCGCCGGTC	0.567		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7577087	G	-	7577087	7	5	217	1	0	1	0	1	0	0	0	0	16378	1377	48	0	435	0	TP53	17	7577087	Frame_Shift_Del	DEL	G	TCGA-D7-6822-01A-11D-1882-08	2581259	7577087	73618123	223	113612											
GUCY2D	3000	broad.mit.edu	37	chr17	7918766	7918766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgccgtgggcactttcCgcatgcgccatatgcctgag	12	13	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:7918766C>T	uc002gjt.2	+	15	2964	c.2890C>T	c.(2890-2892)CGC>TGC	p.R964C		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	964	Guanylate cyclase.|Cytoplasmic (Potential).				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			skin(1)	1		Prostate(122;0.157)				GGGCACTTTCCGCATGCGCCA	0.632													T	7918766	C	T	7918766	3	4	217	1	0	0	0	0	1	0	0	0	6897	652	23	1	2944	1	GUCY2D	17	7918766	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	341679	7918766	73276444	224	113613											
CDK12	51755	broad.mit.edu	37	chr17	37618685	37618685	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	accagcacaggcgttcccggGacttactaaaagctaaacag	9	12	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:37618685G>C	uc010cvv.2	+	1	947	c.361G>C	c.(361-363)GAC>CAC	p.D121H	CDK12_uc010wef.1_Missense_Mutation_p.D121H|CDK12_uc002hrw.3_Missense_Mutation_p.D121H	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	121					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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GCGTTCCCGGGACTTACTAAA	0.522										TCGA Ovarian(9;0.13)			C	37618685	G	C	37618685	3	2	217	1	0	0	0	0	1	0	0	0	3128	1174	41	5	363	5	CDK12	17	37618685	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	29699919	37618685	43576525	225	113614											
WIPF2	147179	broad.mit.edu	37	chr17	38433367	38433367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtattccttccatccaGtagaagactttcctgctcca	5	13	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:38433367G>A	uc002hug.1	+	7	1453	c.1213G>A	c.(1213-1215)GTA>ATA	p.V405I	WIPF2_uc002huh.1_Missense_Mutation_p.V255I|WIPF2_uc010cww.1_Missense_Mutation_p.V255I|WIPF2_uc002hui.1_Missense_Mutation_p.V405I|WIPF2_uc010cwx.1_Missense_Mutation_p.V147I|WIPF2_uc010cwy.1_Missense_Mutation_p.V405I	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	405						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CTTCCATCCAGTAGAAGACTT	0.388										HNSCC(43;0.11)			A	38433367	G	A	38433367	3	1	217	1	0	0	0	0	1	0	0	0	17365	1029	36	4	1235	4	WIPF2	17	38433367	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	814682	38433367	42761843	226	113615											
SOST	50964	broad.mit.edu	37	chr17	41832885	41832885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaggcgcaccttgcgcGcgcgcggcgcctcaccaccg	12	21	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:41832885G>A	uc002iec.1	-	2	514	c.467C>T	c.(466-468)GCG>GTG	p.A156V		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	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				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CACCTTGCGCGCGCGCGGCGC	0.711													A	41832885	G	A	41832885	3	1	217	1	0	0	0	0	1	0	0	0	14938	1087	38	1	178	1	SOST	17	41832885	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	3399518	41832885	39362325	227	113616											
SKAP1	8631	broad.mit.edu	37	chr17	46262095	46262095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtcctacctcatagctgCgcctatcctgggaggtcagt	11	13	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:46262095C>T	uc002ini.1	-	7	669	c.557G>A	c.(556-558)CGC>CAC	p.R186H	SKAP1_uc002inj.1_Missense_Mutation_p.R186H|SKAP1_uc010dbd.1_Missense_Mutation_p.R92H|SKAP1_uc010dbe.1_Missense_Mutation_p.R186H	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	186	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						CTCATAGCTGCGCCTATCCTG	0.522													T	46262095	C	T	46262095	3	4	217	1	0	0	0	0	1	0	0	0	14355	768	27	1	546	1	SKAP1	17	46262095	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	4429210	46262095	34933115	228	113617											
UNC13D	201294	broad.mit.edu	37	chr17	73831582	73831582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggctggaaccagcggtGgaaattatccagggccagga	16	10	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:73831582G>A	uc002jpp.2	-	20	2136	c.1756C>T	c.(1756-1758)CAC>TAC	p.H586Y	UNC13D_uc010wsk.1_Missense_Mutation_p.H586Y|UNC13D_uc002jpq.1_Missense_Mutation_p.H236Y	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	586	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			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)			AACCAGCGGTGGAAATTATCC	0.687									Familial_Hemophagocytic_Lymphohistiocytosis				A	73831582	G	A	73831582	3	1	217	1	0	0	0	0	1	0	0	0	16984	1348	47	4	1568	4	UNC13D	17	73831582	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	27569487	73831582	7363628	229	113618											
PGS1	9489	broad.mit.edu	37	chr17	76394412	76394412	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtctccattctcttagActtcacgcggggctcacgag	10	13	4	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr17:76394412A>C	uc002jvm.2	+	4	503	c.491A>C	c.(490-492)GAC>GCC	p.D164A	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_5'Flank|PGS1_uc002jvn.2_5'Flank|PGS1_uc002jvo.2_5'Flank|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	164					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ATTCTCTTAGACTTCACGCGG	0.517													C	76394412	A	C	76394412	3	2	217	1	0	0	0	0	1	0	0	0	11808	275	10	5	505	5	PGS1	17	76394412	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2562830	76394412	4800798	230	113619											
PTPRM	5797	broad.mit.edu	37	chr18	8113616	8113616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtactactttgctgcAgaatttcctgcagacagcct	7	12	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr18:8113616A>G	uc002knn.3	+	12	2492	c.1989A>G	c.(1987-1989)GCA>GCG	p.A663A	PTPRM_uc010dkv.2_Silent_p.A663A|PTPRM_uc010wzl.1_Silent_p.A450A	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	663	Fibronectin type-III 4.|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				ACTTTGCTGCAGAATTTCCTG	0.428													G	8113616	A	G	8113616	2	3	217	1	0	0	0	0	0	0	0	1	12806	175	7	3		3	PTPRM	18	8113616	Silent	SNP	A	TCGA-D7-6822-01A-11D-1882-08		8113616	69963632	231	113620											
KIAA0802	23255	broad.mit.edu	37	chr18	8824700	8824700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgcttttcccagggcGgtgtccgtgtcctccatgtc	10	13	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr18:8824700G>A	uc002knr.2	+	15	3334	c.3192G>A	c.(3190-3192)GCG>GCA	p.A1064A	KIAA0802_uc002knq.2_Silent_p.A1023A|KIAA0802_uc002kns.2_Silent_p.A404A	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1374											0						TTCCCAGGGCGGTGTCCGTGT	0.577													A	8824700	G	A	8824700	2	1	217	1	0	0	0	0	0	0	0	1	8194	1103	39	1		1	KIAA0802	18	8824700	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	711084	8824700	69252548	232	113621											
CDH2	1000	broad.mit.edu	37	chr18	25532149	25532149	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccaccatacatgtcagcaaGtttcttgaaccgtggccccc	7	15	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr18:25532149G>C	uc002kwg.2	-	16	3148	c.2689C>G	c.(2689-2691)CTT>GTT	p.L897V	CDH2_uc010xbn.1_Missense_Mutation_p.L866V	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	897	Cytoplasmic (Potential).				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			ovary(3)|lung(1)	4						ATGTCAGCAAGTTTCTTGAAC	0.463													C	25532149	G	C	25532149	3	2	217	1	0	0	0	0	1	0	0	0	3105	1029	36	5	35	5	CDH2	18	25532149	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	16707449	25532149	52545099	233	113622											
CDH2	1000	broad.mit.edu	37	chr18	25593870	25593870	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccattgcagttgctaaacTtcactgtaaaagataagaaa	6	7	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr18:25593870T>G	uc002kwg.2	-	3	635	c.176A>C	c.(175-177)AAG>ACG	p.K59T	CDH2_uc010xbn.1_Missense_Mutation_p.K28T	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	59					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			ovary(3)|lung(1)	4						GTTGCTAAACTTCACTGTAAA	0.358													G	25593870	T	G	25593870	3	3	217	1	0	0	0	0	1	0	0	0	3105	1609	56	5	2600	5	CDH2	18	25593870	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	61721	25593870	52483378	234	113623											
NFIC	4782	broad.mit.edu	37	chr19	3433553	3433553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagctttgtcacctccggCgtgttcagcgtcactgagct	12	12	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:3433553C>T	uc010xhi.1	+	4	734	c.672C>T	c.(670-672)GGC>GGT	p.G224G	NFIC_uc002lxo.2_Silent_p.G215G|NFIC_uc010xhh.1_Silent_p.G215G|NFIC_uc002lxp.2_Silent_p.G224G|NFIC_uc010xhj.1_Silent_p.G224G|NFIC_uc002lxq.1_Silent_p.G176G	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	224					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				0		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)		TCACCTCCGGCGTGTTCAGCG	0.627													T	3433553	C	T	3433553	2	4	217	1	0	0	0	0	0	0	0	1	10372	755	27	1		1	NFIC	19	3433553	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08		3433553	55695430	235	113624											
ITGB1BP3	27231	broad.mit.edu	37	chr19	3938712	3938712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagccagaggcctcggAcacccacatcctcctcctgg	9	19	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:3938712A>G	uc002lyz.3	+	5	568	c.278A>G	c.(277-279)GAC>GGC	p.D93G	ITGB1BP3_uc010xia.1_Missense_Mutation_p.D98G	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	93					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCTCGGACACCCACATC	0.642													G	3938712	A	G	3938712	3	3	217	1	0	0	0	0	1	0	0	0	7893	275	10	3	292	3	ITGB1BP3	19	3938712	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	505159	3938712	55190271	236	113625											
NCAN	1463	broad.mit.edu	37	chr19	19356206	19356206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtggcgcatgaaagcGggcgctggaacgatgtcccc	16	10	0	2	rs150818380		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:19356206G>A	uc002nlz.2	+	13	3676	c.3577G>A	c.(3577-3579)GGG>AGG	p.G1193R	NCAN_uc002nma.2_Intron	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1193	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GCATGAAAGCGGGCGCTGGAA	0.557													A	19356206	G	A	19356206	3	1	217	1	0	0	0	0	1	0	0	0	10204	1116	39	1	3623	1	NCAN	19	19356206	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	15417494	19356206	39772777	237	113626											
ZNF99	7652	broad.mit.edu	37	chr19	22942268	22942268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagactttcacatatttgTtacactgaaatatttttccc	4	8	1	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:22942268T>C	uc010xrh.1	-	4	506	c.506A>G	c.(505-507)AAC>AGC	p.N169S		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATATTTGTTACACTGAAA	0.289													C	22942268	T	C	22942268	3	2	217	1	0	0	0	0	1	0	0	0	18201	1725	60	3	2622	3	ZNF99	19	22942268	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	3586062	22942268	36186715	238	113627											
ZNF536	9745	broad.mit.edu	37	chr19	31040160	31040160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggacagcctgcagcccAcaggcacctcccagcccgtc	12	19	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:31040160A>G	uc002nsu.1	+	4	3772	c.3634A>G	c.(3634-3636)ACA>GCA	p.T1212A	ZNF536_uc010edd.1_Missense_Mutation_p.T1212A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CCTGCAGCCCACAGGCACCTC	0.602													G	31040160	A	G	31040160	3	3	217	1	0	0	0	0	1	0	0	0	17971	159	6	3	3644	3	ZNF536	19	31040160	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	8097892	31040160	28088823	239	113628											
SNRPA	6626	broad.mit.edu	37	chr19	41269579	41269579	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctgtccatgcttttcaatCagtaagtggggcctgtggct	12	9	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:41269579C>T	uc002ooz.2	+	5	1223	c.688C>T	c.(688-690)CAG>TAG	p.Q230*	SNRPA_uc002opa.2_Nonsense_Mutation_p.Q180*	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	230	RRM 2.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTTTTCAATCAGTAAGTGGG	0.562													T	41269579	C	T	41269579	4	4	217	1	0	0	0	0	0	1	0	0	14859	840	29	4	706	4	SNRPA	19	41269579	Nonsense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	10229419	41269579	17859404	240	113629											
CEACAM7	1087	broad.mit.edu	37	chr19	42181400	42181400	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgacagcggtcccagctgaGaggtcaggtgaacttgcttg	14	10	1	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:42181400G>A	uc002ori.1	-	4	740	c.738C>T	c.(736-738)CTC>CTT	p.L246L	CEACAM7_uc010ehx.2_Silent_p.L246L|CEACAM7_uc010ehy.1_Silent_p.L153L	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	246						anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCCCAGCTGAGAGGTCAGGTG	0.483													A	42181400	G	A	42181400	2	1	217	1	0	0	0	0	0	0	0	1	3197	929	33	4		4	CEACAM7	19	42181400	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	911821	42181400	16947583	241	113630											
ZNF285	26974	broad.mit.edu	37	chr19	44892160	44892160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctgactcacagttaaatCccggatcctttgtttccaaa	5	12	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:44892160C>T	uc002ozd.3	-	4	334	c.247G>A	c.(247-249)GAT>AAT	p.D83N	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.D90N	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						ACAGTTAAATCCCGGATCCTT	0.423													T	44892160	C	T	44892160	3	4	217	1	0	0	0	0	1	0	0	0	17819	855	30	4	1529	4	ZNF285	19	44892160	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	2710760	44892160	14236823	242	113631											
LRRC4B	94030	broad.mit.edu	37	chr19	51021951	51021951	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccggcgggcgcatgaCagcgggcgcagcacgtcgtg	19	12	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:51021951C>G	uc002pss.2	-	3	1156	c.1019G>C	c.(1018-1020)TGT>TCT	p.C340S		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	340	LRRCT.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCGCATGACAGCGGGCGCA	0.657													G	51021951	C	G	51021951	3	3	217	1	0	0	0	0	1	0	0	0	9007	478	17	5	1126	5	LRRC4B	19	51021951	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	6129791	51021951	8107032	243	113632											
ZNF665	79788	broad.mit.edu	37	chr19	53669151	53669151	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttctctccagtatgaattcTcttatgacttgttagccgtg	7	10	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:53669151T>A	uc010eqm.1	-	4	692	c.592A>T	c.(592-594)AGA>TGA	p.R198*		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	133	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		GTATGAATTCTCTTATGACTT	0.393													A	53669151	T	A	53669151	4	1	217	1	0	0	0	0	0	1	0	0	18070	1559	54	5	1448	5	ZNF665	19	53669151	Nonsense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	2647200	53669151	5459832	244	113633											
ZNF665	79788	broad.mit.edu	37	chr19	53669240	53669240	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgattattaggagacttcTcaacttgattgtattcataa	6	7	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:53669240T>G	uc010eqm.1	-	4	603	c.503A>C	c.(502-504)GAG>GCG	p.E168A		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		AGGAGACTTCTCAACTTGATT	0.363													G	53669240	T	G	53669240	3	3	217	1	0	0	0	0	1	0	0	0	18070	1551	54	5	1537	5	ZNF665	19	53669240	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	89	53669240	5459743	245	113634											
LAIR1	3903	broad.mit.edu	37	chr19	54866947	54866947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgtggggacacagccCgggctgtcctctgtgtgagg	17	10	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:54866947C>T	uc002qfk.1	-	10	1104	c.794G>A	c.(793-795)CGG>CAG	p.R265Q	LAIR1_uc002qfl.1_Missense_Mutation_p.R248Q|LAIR1_uc002qfm.1_Missense_Mutation_p.R264Q|LAIR1_uc002qfn.1_Missense_Mutation_p.R247Q|LAIR1_uc010yex.1_Missense_Mutation_p.R258Q|LAIR1_uc002qfo.2_Missense_Mutation_p.R247Q	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	265	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGACACAGCCCGGGCTGTCCT	0.632													T	54866947	C	T	54866947	3	4	217	1	0	0	0	0	1	0	0	0	8602	652	23	1	73	1	LAIR1	19	54866947	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	1197707	54866947	4262036	246	113635											
ZFP28	140612	broad.mit.edu	37	chr19	57066167	57066167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccatacaggagagaaAccatatgagtgcaaggaatg	10	7	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr19:57066167A>C	uc002qnj.2	+	8	2084	c.2013A>C	c.(2011-2013)AAA>AAC	p.K671N	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CAGGAGAGAAACCATATGAGT	0.458													C	57066167	A	C	57066167	3	2	217	1	0	0	0	0	1	0	0	0	17639	40	2	5	2043	5	ZFP28	19	57066167	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	2199220	57066167	2062816	247	113636											
ATRN	8455	broad.mit.edu	37	chr20	3578562	3578562	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttccatagatactcttcTtattgactatcagttcacct	3	11	5	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:3578562T>G	uc002wim.2	+	22	3569	c.3479T>G	c.(3478-3480)CTT>CGT	p.L1160R	ATRN_uc002wil.2_Missense_Mutation_p.L1160R	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1160	Extracellular (Potential).				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GATACTCTTCTTATTGACTAT	0.323													G	3578562	T	G	3578562	3	3	217	1	0	0	0	0	1	0	0	0	1206	1609	56	5	3565	5	ATRN	20	3578562	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08		3578562	59446958	248	113637											
PLCB1	23236	broad.mit.edu	37	chr20	8755266	8755266	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctgaaatgacccaaaAgttaatagacttgaaggaca	10	6	0	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:8755266A>C	uc002wnb.2	+	27	3014	c.3011A>C	c.(3010-3012)AAG>ACG	p.K1004T	PLCB1_uc010zrb.1_Missense_Mutation_p.K903T|PLCB1_uc002wna.2_Missense_Mutation_p.K1004T|PLCB1_uc002wnc.1_Missense_Mutation_p.K903T|PLCB1_uc002wnd.1_Missense_Mutation_p.K581T	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1004					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						ATGACCCAAAAGTTAATAGAC	0.433													C	8755266	A	C	8755266	3	2	217	1	0	0	0	0	1	0	0	0	12027	72	3	5	3117	5	PLCB1	20	8755266	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	5176704	8755266	54270254	249	113638											
PAK7	57144	broad.mit.edu	37	chr20	9525024	9525024	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacccccttacctctgtccCataaggtagcctagaaatca	6	14	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:9525024C>G	uc002wnl.2	-	9	2406	c.1861G>C	c.(1861-1863)GGG>CGG	p.G621R	PAK7_uc002wnk.2_Missense_Mutation_p.G621R|PAK7_uc002wnj.2_Missense_Mutation_p.G621R|PAK7_uc010gby.1_Intron	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	621	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			ACCTCTGTCCCATAAGGTAGC	0.542													G	9525024	C	G	9525024	3	3	217	1	0	0	0	0	1	0	0	0	11405	594	21	5	310	5	PAK7	20	9525024	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	769758	9525024	53500496	250	113639											
ANKRD5	63926	broad.mit.edu	37	chr20	10030351	10030351	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagaacagctggctgccatCgctcaccttcatgagaaaac	8	13	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:10030351C>T	uc002wno.2	+	7	1527	c.1134C>T	c.(1132-1134)ATC>ATT	p.I378I	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.I378I|ANKRD5_uc010gbz.2_Silent_p.I189I	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	378							calcium ion binding			ovary(1)|breast(1)	2						TGGCTGCCATCGCTCACCTTC	0.453													T	10030351	C	T	10030351	2	4	217	1	0	0	0	0	0	0	0	1	676	874	31	1		1	ANKRD5	20	10030351	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	505327	10030351	52995169	251	113640											
SPTLC3	55304	broad.mit.edu	37	chr20	13140736	13140736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcagaagctcgggctcGgttttgtgtttcagcggcac	13	12	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:13140736G>A	uc002wod.1	+	11	1791	c.1502G>A	c.(1501-1503)CGG>CAG	p.R501Q		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	501					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	GCTCGGGCTCGGTTTTGTGTT	0.512													A	13140736	G	A	13140736	3	1	217	1	0	0	0	0	1	0	0	0	15124	1116	39	1	1544	1	SPTLC3	20	13140736	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	3110385	13140736	49884784	252	113641											
PAX1	5075	broad.mit.edu	37	chr20	21687603	21687603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatgggcagccaccccGgggtcccgggcacggcgggc	17	16	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:21687603G>T	uc002wsj.2	+	2	868	c.814G>T	c.(814-816)GGG>TGG	p.G272W	PAX1_uc010zsl.1_Missense_Mutation_p.G272W|PAX1_uc010zsm.1_Missense_Mutation_p.G248W	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	272					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CAGCCACCCCGGGGTCCCGGG	0.682													T	21687603	G	T	21687603	3	4	217	1	0	0	0	0	1	0	0	0	11478	1116	39	5	820	5	PAX1	20	21687603	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	8546867	21687603	41337917	253	113642											
ASXL1	171023	broad.mit.edu	37	chr20	31021453	31021453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccgaattcccagttgaGtctgtggcttctcggatcca	11	12	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:31021453G>C	uc002wxs.2	+	11	1878	c.1452G>C	c.(1450-1452)GAG>GAC	p.E484D	ASXL1_uc010geb.2_Missense_Mutation_p.E375D	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	484					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TCCCAGTTGAGTCTGTGGCTT	0.592			F|N|Mis		MDS|CMML								C	31021453	G	C	31021453	3	2	217	1	0	0	0	0	1	0	0	0	1066	1020	36	5	1504	5	ASXL1	20	31021453	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	9333850	31021453	32004067	254	113643											
GGT7	2686	broad.mit.edu	37	chr20	33437798	33437798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggttggactgcaggtccggGtgtaggcggccgcgggccag	20	10	0	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:33437798G>C	uc002xay.2	-	14	1834	c.1791C>G	c.(1789-1791)CAC>CAG	p.H597Q	GGT7_uc010gex.2_RNA|GGT7_uc002xaz.1_Missense_Mutation_p.H614Q	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	597	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						GCAGGTCCGGGTGTAGGCGGC	0.602													C	33437798	G	C	33437798	3	2	217	1	0	0	0	0	1	0	0	0	6364	1252	44	5	205	5	GGT7	20	33437798	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	2416345	33437798	29587722	255	113644											
ZNF335	63925	broad.mit.edu	37	chr20	44587966	44587966	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctcctcagggtggcgcctCccccattcctcgaagctgct	11	17	1	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:44587966C>T	uc002xqw.2	-	15	2250	c.2127G>A	c.(2125-2127)GGG>GGA	p.G709G	ZNF335_uc010zxk.1_Silent_p.G554G	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGTGGCGCCTCCCCCATTCCT	0.647													T	44587966	C	T	44587966	2	4	217	1	0	0	0	0	0	0	0	1	17849	842	30	4		4	ZNF335	20	44587966	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	11150168	44587966	18437554	256	113645											
ZNF335	63925	broad.mit.edu	37	chr20	44596236	44596236	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgctccacttccgtagAcgtccttttttaccagctgc	9	13	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:44596236A>T	uc002xqw.2	-	6	975	c.852T>A	c.(850-852)CGT>CGA	p.R284R	ZNF335_uc010zxk.1_Silent_p.R129R|ZNF335_uc002xqx.1_Silent_p.R252R|ZNF335_uc002xqy.2_Silent_p.R129R	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ACTTCCGTAGACGTCCTTTTT	0.577													T	44596236	A	T	44596236	2	4	217	1	0	0	0	0	0	0	0	1	17849	262	10	5		5	ZNF335	20	44596236	Silent	SNP	A	TCGA-D7-6822-01A-11D-1882-08	8270	44596236	18429284	257	113646											
COL20A1	57642	broad.mit.edu	37	chr20	61939894	61939894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattcctgctgctcccaagGccttgccctgacccacgtgc	8	17	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:61939894G>A	uc011aau.1	+	8	876	c.776G>A	c.(775-777)GGC>GAC	p.G259D	COL20A1_uc011aav.1_Missense_Mutation_p.G80D	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	259	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGCTCCCAAGGCCTTGCCCTG	0.647													A	61939894	G	A	61939894	3	1	217	1	0	0	0	0	1	0	0	0	3679	1217	42	2	802	2	COL20A1	20	61939894	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	17343658	61939894	1085626	258	113647											
MYT1	4661	broad.mit.edu	37	chr20	62851193	62851193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtgaagtctcccgacgCctcccagcgccacagcagca	11	17	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr20:62851193C>T	uc002yii.2	+	13	2463	c.2099C>T	c.(2098-2100)GCC>GTC	p.A700V	MYT1_uc002yih.2_Missense_Mutation_p.A402V|MYT1_uc002yij.2_Missense_Mutation_p.A359V	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	700	Ser-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCTCCCGACGCCTCCCAGCGC	0.577													T	62851193	C	T	62851193	3	4	217	1	0	0	0	0	1	0	0	0	10106	739	26	2	2141	2	MYT1	20	62851193	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	911299	62851193	174327	259	113648											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327188	28327188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaatgatgcccacataaAtcctgcccaggagaaagaaa	8	10	0	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr21:28327188A>C	uc002ymg.2	-	2	1836	c.1107T>G	c.(1105-1107)GAT>GAG	p.D369E		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	369	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCCCACATAAATCCTGCCCAG	0.483													C	28327188	A	C	28327188	3	2	217	1	0	0	0	0	1	0	0	0	269	98	4	5	1713	5	ADAMTS5	21	28327188	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08		28327188	19802707	260	113649											
GRIK1	2897	broad.mit.edu	37	chr21	30927571	30927571	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcatatgcagcttcccTtcttcttggagttgaagaat	7	9	4	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr21:30927571T>G	uc002yno.1	-	16	2873	c.2409A>C	c.(2407-2409)GAA>GAC	p.E803D	GRIK1_uc002ynn.2_Missense_Mutation_p.E788D|GRIK1_uc011acs.1_Missense_Mutation_p.E803D|GRIK1_uc011act.1_Missense_Mutation_p.E664D	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	803	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCAGCTTCCCTTCTTCTTGGA	0.448													G	30927571	T	G	30927571	3	3	217	1	0	0	0	0	1	0	0	0	6773	1606	56	5	515	5	GRIK1	21	30927571	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	2600383	30927571	17202324	261	113650											
DSCR6	53820	broad.mit.edu	37	chr21	38390197	38390197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttacccatgtcaaagcGtcaagaatacctgcggagtt	8	10	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr21:38390197G>A	uc002yvv.2	+	4	473	c.263G>A	c.(262-264)CGT>CAT	p.R88H	DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Down syndrome critical region protein 6	88	Ripply homology domain.					nucleus				breast(1)	1		Myeloproliferative disorder(46;0.0632)				ATGTCAAAGCGTCAAGAATAC	0.448													A	38390197	G	A	38390197	3	1	217	1	0	0	0	0	1	0	0	0	4773	1145	40	1	277	1	DSCR6	21	38390197	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	7462626	38390197	9739698	262	113651											
ERG	2078	broad.mit.edu	37	chr21	39755499	39755499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttctgtgggtgggcGtgataggagcccatgtacgg	15	8	3	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr21:39755499G>A	uc010gnw.2	-	12	1582	c.1287C>T	c.(1285-1287)CAC>CAT	p.H429H	ERG_uc002yxa.2_Silent_p.H422H|ERG_uc011aek.1_Silent_p.H330H|ERG_uc010gnv.2_Silent_p.H306H|ERG_uc010gnx.2_Silent_p.H405H|ERG_uc011ael.1_Silent_p.H429H|ERG_uc002yxb.2_Silent_p.H405H	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	429					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				GTGGGTGGGCGTGATAGGAGC	0.592													A	39755499	G	A	39755499	2	1	217	1	0	0	0	0	0	0	0	1	5222	1136	40	1		1	ERG	21	39755499	Silent	SNP	G	TCGA-D7-6822-01A-11D-1882-08	1365302	39755499	8374396	263	113652											
TRMT2A	27037	broad.mit.edu	37	chr22	20104493	20104511	+	Splice_Site	DEL	GGCCTGTCACAAGGGAAGT	GGCCTGTCACAAGGGAAGT	-													cgcctggccacctcgtcctgGgcctgtcacaagggaagtgg					rs11544956		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr22:20104493_20104511delGGCCTGTCACAAGGGAAGT	uc002zrk.1	-	2	150	c.-65_splice	c.e2-1		TRMT2A_uc002zrl.1_5'UTR|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_5'UTR|TRMT2A_uc011ahk.1_5'UTR|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C						RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						CCTCGTCCTGGGCCTGTCACAAGGGAAGTGGCCTGTCAC	0.699													-	20104511	GGCCTGTCACAAGGGAAGT	-	20104493	8	5	217	1	0	1	0	1	0	0	1	0	16562	1247	43	0		0	TRMT2A	22	20104493	Splice_Site	DEL	GGCCTGTCACAAGGGAAGT	TCGA-D7-6822-01A-11D-1882-08		20104493	31200073	264	113653											
SGSM1	129049	broad.mit.edu	37	chr22	25251628	25251628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccttctctatggcaaaaAcaacgttcttgttcagccgg	7	13	3	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr22:25251628A>G	uc003abg.2	+	8	939	c.782A>G	c.(781-783)AAC>AGC	p.N261S	SGSM1_uc003abh.2_Missense_Mutation_p.N261S|SGSM1_uc010guu.1_Missense_Mutation_p.N261S|SGSM1_uc003abj.2_Missense_Mutation_p.N261S|SGSM1_uc003abi.1_Missense_Mutation_p.N236S|SGSM1_uc003abf.2_Missense_Mutation_p.N261S	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	261						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						TATGGCAAAAACAACGTTCTT	0.547													G	25251628	A	G	25251628	3	3	217	1	0	0	0	0	1	0	0	0	14222	43	2	3	812	3	SGSM1	22	25251628	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	5147135	25251628	26052938	265	113654											
APOL2	23780	broad.mit.edu	37	chr22	36623750	36623750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgcgggggtggggcataCgctcctaactgagggttggc	17	8	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr22:36623750C>T	uc003aoz.2	-	5	1050	c.714G>A	c.(712-714)GCG>GCA	p.A238A	APOL2_uc011amm.1_Silent_p.A350A|APOL2_uc003apa.2_Silent_p.A238A	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	238					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				0						GTGGGGCATACGCTCCTAACT	0.542													T	36623750	C	T	36623750	2	4	217	1	0	0	0	0	0	0	0	1	806	523	19	1		1	APOL2	22	36623750	Silent	SNP	C	TCGA-D7-6822-01A-11D-1882-08	11372122	36623750	14680816	266	113655											
RANGAP1	5905	broad.mit.edu	37	chr22	41670686	41670686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccttccagacgcagaGcctccaagctgtcaaagtct	9	13	2	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chr22:41670686G>A	uc003azs.2	-	2	1628	c.158C>T	c.(157-159)GCT>GTT	p.A53V	RANGAP1_uc003azt.2_Missense_Mutation_p.A53V|RANGAP1_uc003azu.2_Missense_Mutation_p.A53V|RANGAP1_uc011aoz.1_Missense_Mutation_p.A43V	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	53	LRR 1.				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						CAGACGCAGAGCCTCCAAGCT	0.512													A	41670686	G	A	41670686	3	1	217	1	0	0	0	0	1	0	0	0	13033	971	34	2	1661	2	RANGAP1	22	41670686	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	5046936	41670686	9633880	267	113656											
ARSF	416	broad.mit.edu	37	chrX	3002505	3002505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacctttgggaagctgagcGgctgggtctctgttccctgg	14	10	1	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:3002505G>A	uc004cre.1	+	6	849	c.628G>A	c.(628-630)GGC>AGC	p.G210S	ARSF_uc004crf.1_Missense_Mutation_p.G210S	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	210						extracellular region	arylsulfatase activity|metal ion binding	p.G210S(1)		ovary(2)	2		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)				GAAGCTGAGCGGCTGGGTCTC	0.522													A	3002505	G	A	3002505	3	1	217	1	0	0	0	0	1	0	0	0	991	1116	39	1	646	1	ARSF	23	3002505	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08		3002505	152268055	268	113657											
FRMPD4	9758	broad.mit.edu	37	chrX	12736165	12736165	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtgtcttcacgagacagtCaacacctgagcacttttaat	7	11	3	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:12736165C>A	uc004cuz.1	+	16	3726	c.3220C>A	c.(3220-3222)CAA>AAA	p.Q1074K	FRMPD4_uc011mij.1_Missense_Mutation_p.Q1066K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1074					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						ACGAGACAGTCAACACCTGAG	0.473													A	12736165	C	A	12736165	3	1	217	1	0	0	0	0	1	0	0	0	6059	827	29	5	3282	5	FRMPD4	23	12736165	Missense_Mutation	SNP	C	TCGA-D7-6822-01A-11D-1882-08	9733660	12736165	142534395	269	113658											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29935668	29935668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgaaaggagaaaaatTtattgaagatctggatgaaa	11	2	1	5			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:29935668T>G	uc004dby.2	+	7	1374	c.866T>G	c.(865-867)TTT>TGT	p.F289C		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	289	Extracellular (Potential).|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			ovary(3)|lung(1)|pancreas(1)	5						GGAGAAAAATTTATTGAAGAT	0.363													G	29935668	T	G	29935668	3	3	217	1	0	0	0	0	1	0	0	0	7661	1841	64	5	888	5	IL1RAPL1	23	29935668	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	17199503	29935668	125334892	270	113659											
STARD8	9754	broad.mit.edu	37	chrX	67937258	67937258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccgtgagcctaccacccGagccagcagacttgcccttg	9	17	1	2	rs149322857		TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:67937258G>A	uc004dxa.2	+	5	634	c.262G>A	c.(262-264)GAG>AAG	p.E88K	STARD8_uc004dxb.2_Missense_Mutation_p.E168K|STARD8_uc004dxc.3_Missense_Mutation_p.E88K	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	88					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CCTACCACCCGAGCCAGCAGA	0.677													A	67937258	G	A	67937258	3	1	217	1	0	0	0	0	1	0	0	0	15262	1059	37	1	524	1	STARD8	23	67937258	Missense_Mutation	SNP	G	TCGA-D7-6822-01A-11D-1882-08	38001590	67937258	87333302	271	113660											
ZDHHC15	158866	broad.mit.edu	37	chrX	74698782	74698782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtaggtccaggtaaAgaacacaaagatggcatggt	11	8	0	2			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:74698782A>C	uc004ecg.2	-	3	680	c.202T>G	c.(202-204)TTT>GTT	p.F68V	ZDHHC15_uc004ech.2_Missense_Mutation_p.F59V|ZDHHC15_uc011mqo.1_RNA|ZDHHC15_uc004eci.2_Missense_Mutation_p.F59V	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	68	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(2)	2						GTCCAGGTAAAGAACACAAAG	0.323													C	74698782	A	C	74698782	3	2	217	1	0	0	0	0	1	0	0	0	17602	72	3	5	927	5	ZDHHC15	23	74698782	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	6761524	74698782	80571778	272	113661											
FAM46D	169966	broad.mit.edu	37	chrX	79698243	79698243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgaatggttccgtagcaAgttacatacttgcaagccac	9	9	0	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:79698243A>C	uc004edl.1	+	5	539	c.205A>C	c.(205-207)AGT>CGT	p.S69R	FAM46D_uc004edm.1_Missense_Mutation_p.S69R	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2						TTCCGTAGCAAGTTACATACT	0.378													C	79698243	A	C	79698243	3	2	217	1	0	0	0	0	1	0	0	0	5568	72	3	5	207	5	FAM46D	23	79698243	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	4999461	79698243	75572317	273	113662											
HDX	139324	broad.mit.edu	37	chrX	83599419	83599419	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttggaggtggaactTcaatccccattaaacgatat	7	11	2	0			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:83599419T>G	uc004eek.1	-	6	1608	c.1499A>C	c.(1498-1500)GAA>GCA	p.E500A	HDX_uc011mqv.1_Missense_Mutation_p.E500A|HDX_uc004eel.1_Missense_Mutation_p.E442A	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	500						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGGTGGAACTTCAATCCCCAT	0.428													G	83599419	T	G	83599419	3	3	217	1	0	0	0	0	1	0	0	0	7026	1783	62	5	593	5	HDX	23	83599419	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	3901176	83599419	71671141	274	113663											
PCDH11X	27328	broad.mit.edu	37	chrX	91090643	91090643	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgacttgttgaaagaccTtaacttgtcgctgattccaa	9	9	0	3			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:91090643T>G	uc004efk.1	+	1	985	c.140T>G	c.(139-141)CTT>CGT	p.L47R	PCDH11X_uc004efl.1_Missense_Mutation_p.L47R|PCDH11X_uc004efo.1_Missense_Mutation_p.L47R|PCDH11X_uc010nmv.1_Missense_Mutation_p.L47R|PCDH11X_uc004efm.1_Missense_Mutation_p.L47R|PCDH11X_uc004efn.1_Missense_Mutation_p.L47R|PCDH11X_uc004efh.1_Missense_Mutation_p.L47R|PCDH11X_uc004efj.1_Missense_Mutation_p.L47R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	47	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TTGAAAGACCTTAACTTGTCG	0.473													G	91090643	T	G	91090643	3	3	217	1	0	0	0	0	1	0	0	0	11508	1609	56	5	142	5	PCDH11X	23	91090643	Missense_Mutation	SNP	T	TCGA-D7-6822-01A-11D-1882-08	7491224	91090643	64179917	275	113664											
MAGEC1	9947	broad.mit.edu	37	chrX	140993256	140993256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagttcctctgagagtccTcagagttgtcctgaggggga	14	9	2	4			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:140993256T>C	uc004fbt.2	+	4	352	c.66T>C	c.(64-66)CCT>CCC	p.P22P	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	22							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGAGTCCTCAGAGTTGTC	0.512										HNSCC(15;0.026)			C	140993256	T	C	140993256	2	2	217	1	0	0	0	0	0	0	0	1	9180	1538	54	3		3	MAGEC1	23	140993256	Silent	SNP	T	TCGA-D7-6822-01A-11D-1882-08	49902613	140993256	14277304	276	113665											
SPANXN1	494118	broad.mit.edu	37	chrX	144337294	144337294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttttgctacaggaaagctaAgaaaatacattcaaatcaac	6	7	2	1			TCGA-D7-6822-01A-11D-1882-08	TCGA-D7-6822-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1021b60d-f7b2-43b0-b2cc-f282d619d533	1bbfeaa7-ec73-45fd-8527-771d952afd70	g.chrX:144337294A>T	uc004fcb.2	+	2	179	c.179A>T	c.(178-180)AAG>ATG	p.K60M		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	60											0	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAAGCTAAGAAAATACAT	0.448													T	144337294	A	T	144337294	3	4	217	1	0	0	0	0	1	0	0	0	14990	72	3	5	185	5	SPANXN1	23	144337294	Missense_Mutation	SNP	A	TCGA-D7-6822-01A-11D-1882-08	3344038	144337294	10933266	277	113666											
CLSTN1	22883	broad.mit.edu	37	chr1	9809625	9809625	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtactgaggcgactggctcGtcacatgtctccaggtggat	13	10	2	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:9809625G>C	uc001aqh.2	-	7	1638	c.879C>G	c.(877-879)GAC>GAG	p.D293E	CLSTN1_uc001aqi.2_Missense_Mutation_p.D283E|CLSTN1_uc010oag.1_Missense_Mutation_p.D293E	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	293	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGACTGGCTCGTCACATGTCT	0.572													C	9809625	G	C	9809625	3	2	218	1	0	0	0	0	1	0	0	0	3561	1136	40	5	2118	5	CLSTN1	1	9809625	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08		9809625	239440996	1	113667											
CLCNKA	1187	broad.mit.edu	37	chr1	16359716	16359716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccctcttcgtgacatcgCggggcagagctgtgggctgc	15	12	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:16359716C>T	uc001axu.2	+	19	2061	c.1981C>T	c.(1981-1983)CGG>TGG	p.R661W	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.R660W|CLCNKA_uc010obw.1_Missense_Mutation_p.R618W|CLCNKB_uc001axw.3_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	661	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		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)	CGTGACATCGCGGGGCAGAGC	0.612											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	16359716	C	T	16359716	3	4	218	1	0	0	0	0	1	0	0	0	3469	759	27	1	2051	1	CLCNKA	1	16359716	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	6550091	16359716	232890905	2	113668											
ASH1L	55870	broad.mit.edu	37	chr1	155408474	155408474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaagattttattgacatgGtctaggtttttctttgtggc	9	4	2	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:155408474G>A	uc009wqq.2	-	5	5952	c.5472C>T	c.(5470-5472)GAC>GAT	p.D1824D	ASH1L_uc001fkt.2_Silent_p.D1824D	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1824					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TATTGACATGGTCTAGGTTTT	0.448													A	155408474	G	A	155408474	2	1	218	1	0	0	0	0	0	0	0	1	1041	1252	44	4		4	ASH1L	1	155408474	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	139048758	155408474	93842147	3	113669											
SPTA1	6708	broad.mit.edu	37	chr1	158623116	158623116	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcctggctcttctcgtcGccgctgtgggagcatcggga	14	12	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:158623116G>A	uc001fst.1	-	22	3335	c.3136C>T	c.(3136-3138)CGA>TGA	p.R1046*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1046					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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCTTCTCGTCGCCGCTGTGGG	0.537													A	158623116	G	A	158623116	4	1	218	1	0	0	0	0	0	1	0	0	15115	1095	38	1	4247	1	SPTA1	1	158623116	Nonsense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	3214642	158623116	90627505	4	113670											
LRRC52	440699	broad.mit.edu	37	chr1	165513859	165513859	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actcatctaccttgacctcaGctccaacaacctaacctcga	3	17	3	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:165513859G>C	uc001gde.2	+	1	382	c.326G>C	c.(325-327)AGC>ACC	p.S109T	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	109	LRR 3.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTTGACCTCAGCTCCAACAAC	0.488													C	165513859	G	C	165513859	3	2	218	1	0	0	0	0	1	0	0	0	9010	971	34	5	328	5	LRRC52	1	165513859	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	6890743	165513859	83736762	5	113671											
DSTYK	25778	broad.mit.edu	37	chr1	205132996	205132996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagccactgcctgattaagtCgggagatgatgagttcctgg	13	8	0	4			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:205132996C>T	uc001hbw.2	-	4	1476	c.1412G>A	c.(1411-1413)CGA>CAA	p.R471Q	DSTYK_uc001hbx.2_Missense_Mutation_p.R471Q|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	471						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CTGATTAAGTCGGGAGATGAT	0.512													T	205132996	C	T	205132996	3	4	218	1	0	0	0	0	1	0	0	0	4785	884	31	1	1417	1	DSTYK	1	205132996	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	39619137	205132996	44117625	6	113672											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933511	209933511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaatgtgaccacttgcCgccaggtggggaagacgctg	14	12	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:209933511C>T	uc001hho.2	+	3	417	c.127C>T	c.(127-129)CGC>TGC	p.R43C	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R43C|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R43C|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R43C|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R43C	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	43	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GACCACTTGCCGCCAGGTGGG	0.612													T	209933511	C	T	209933511	3	4	218	1	0	0	0	0	1	0	0	0	16439	652	23	1	129	1	TRAF3IP3	1	209933511	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	4800515	209933511	39317110	7	113673											
CENPF	1063	broad.mit.edu	37	chr1	214818018	214818018	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgctcagcaggaccTcaatctagacattgagaaaa	8	8	3	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:214818018T>A	uc001hkm.2	+	13	5279	c.5105T>A	c.(5104-5106)CTC>CAC	p.L1702H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1798					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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGCAGGACCTCAATCTAGAC	0.438													A	214818018	T	A	214818018	3	1	218	1	0	0	0	0	1	0	0	0	3231	1551	54	5	5151	5	CENPF	1	214818018	Missense_Mutation	SNP	T	TCGA-D7-8570-01A-11D-2340-08	4884507	214818018	34432603	8	113674											
TLR5	7100	broad.mit.edu	37	chr1	223285526	223285526	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacttctggccaggccaGcaaatgtgttctggtcagga	12	10	3	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:223285526G>C	uc001hnv.1	-	4	1294	c.848C>G	c.(847-849)GCT>GGT	p.A283G	TLR5_uc001hnw.1_Missense_Mutation_p.A283G	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	283	Extracellular (Potential).				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			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		GGCCAGGCCAGCAAATGTGTT	0.483													C	223285526	G	C	223285526	3	2	218	1	0	0	0	0	1	0	0	0	15951	971	34	5	1732	5	TLR5	1	223285526	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	8467508	223285526	25965095	9	113675											
OBSCN	84033	broad.mit.edu	37	chr1	228430943	228430944	+	Frame_Shift_Ins	INS	-	-	G													tgaggtgcaggctgaggcagINSgggccagtgccacgctgagc							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr1:228430942_228430943A>AG	uc009xez.1	+	9	3032_3033	c.2988_2989A>AG	c.(2986-2991)gcagggfs	p.A996fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A996fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	996	Ig-like 10.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				AGGCTGAGGCAGGGGCCAGTGC	0.589													G	228430944	-	G	228430943	7	5	218	1	0	1	1	0	0	0	0	0	10812	1000	35	0	3023	0	OBSCN	1	228430943	Frame_Shift_Ins	INS	-	TCGA-D7-8570-01A-11D-2340-08	5145417	228430943	20819678	10	113676											
CPSF3	51692	broad.mit.edu	37	chr2	9580739	9580739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccatgaatgacaaaatcCgcaaacagatcaacatcaat	5	10	2	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:9580739C>T	uc002qzo.1	+	8	915	c.880C>T	c.(880-882)CGC>TGC	p.R294C	CPSF3_uc010ewx.1_Missense_Mutation_p.R294C|CPSF3_uc002qzp.1_Missense_Mutation_p.R257C	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	294					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			breast(2)	2	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)		TGACAAAATCCGCAAACAGAT	0.383													T	9580739	C	T	9580739	3	4	218	1	0	0	0	0	1	0	0	0	3826	652	23	1	910	1	CPSF3	2	9580739	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08		9580739	233618634	11	113677											
CLIP4	79745	broad.mit.edu	37	chr2	29383251	29383251	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatagccgttgcgagggggaActccgcctcggagagagagt	16	9	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:29383251A>T	uc002rmv.2	+	12	1691	c.1452A>T	c.(1450-1452)GAA>GAT	p.E484D	CLIP4_uc002rmu.2_Missense_Mutation_p.E484D|CLIP4_uc010ezm.1_Missense_Mutation_p.E484D|CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	484										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GCGAGGGGGAACTCCGCCTCG	0.498													T	29383251	A	T	29383251	3	4	218	1	0	0	0	0	1	0	0	0	3535	40	2	5	1494	5	CLIP4	2	29383251	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	19802512	29383251	213816122	12	113678											
MAL	4118	broad.mit.edu	37	chr2	95713846	95713846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacataattggagcccacgGtggagagacttcctgggtca	13	9	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:95713846G>T	uc002stx.1	+	2	295	c.236G>T	c.(235-237)GGT>GTT	p.G79V	MAL_uc002sty.1_Intron|MAL_uc002stz.1_Missense_Mutation_p.G79V|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	79	Cytoplasmic (Potential).|MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)		GGAGCCCACGGTGGAGAGACT	0.617													T	95713846	G	T	95713846	3	4	218	1	0	0	0	0	1	0	0	0	9199	1261	44	5	242	5	MAL	2	95713846	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	66330595	95713846	147485527	13	113679											
ZNF2	7549	broad.mit.edu	37	chr2	95847608	95847608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcgctatcagtgtaaCgagtgtggcaaagctttctt	10	10	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:95847608C>T	uc002suf.2	+	6	1494	c.1032C>T	c.(1030-1032)AAC>AAT	p.N344N	ZNF2_uc002sug.2_Silent_p.N302N|ZNF2_uc010yue.1_Silent_p.N307N|ZNF2_uc010fhs.2_Silent_p.N265N	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	344	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATCAGTGTAACGAGTGTGGCA	0.493													T	95847608	C	T	95847608	2	4	218	1	0	0	0	0	0	0	0	1	17757	535	19	1		1	ZNF2	2	95847608	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	133762	95847608	147351765	14	113680											
MBD5	55777	broad.mit.edu	37	chr2	149240903	149240903	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accatcttccacaccccttgAaccccagcctcctcagttct	3	20	3	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:149240903A>T	uc002twm.3	+	10	3731	c.2743A>T	c.(2743-2745)AAC>TAC	p.N915Y	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.N915Y|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	915						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACACCCCTTGAACCCCAGCCT	0.468													T	149240903	A	T	149240903	3	4	218	1	0	0	0	0	1	0	0	0	9347	246	9	5	2761	5	MBD5	2	149240903	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	53393295	149240903	93958470	15	113681											
SCN1A	6323	broad.mit.edu	37	chr2	166848344	166848344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgcatcgggatcaaacTtctcccaaacctcatagaac	7	12	3	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:166848344T>G	uc010zcz.1	-	26	5426	c.5408A>C	c.(5407-5409)AAG>ACG	p.K1803T		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1814	IV.		WEKF -> C (in SMEI).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGATCAAACTTCTCCCAAAC	0.453													G	166848344	T	G	166848344	3	3	218	1	0	0	0	0	1	0	0	0	13914	1609	56	5	592	5	SCN1A	2	166848344	Missense_Mutation	SNP	T	TCGA-D7-8570-01A-11D-2340-08	17607441	166848344	76351029	16	113682											
HOXD4	3233	broad.mit.edu	37	chr2	177017437	177017437	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatttcattttaacaggtatCtgacaaggcgccgtcggatt	9	8	2	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:177017437C>G	uc002uks.2	+	2	784	c.535C>G	c.(535-537)CTG>GTG	p.L179V		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	179	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TAACAGGTATCTGACAAGGCG	0.527													G	177017437	C	G	177017437	3	3	218	1	0	0	0	0	1	0	0	0	7324	912	32	5	541	5	HOXD4	2	177017437	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	10169093	177017437	66181936	17	113683											
CASP8	841	broad.mit.edu	37	chr2	202151266	202151266	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacatggggaaacagatGcctcagcctactttcacact	7	11	2	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:202151266G>C	uc002uxr.1	+	10	1598	c.1389G>C	c.(1387-1389)ATG>ATC	p.M463I	CASP8_uc002uxp.1_Missense_Mutation_p.M480I|CASP8_uc002uxq.1_Missense_Mutation_p.M448I|CASP8_uc002uxt.1_Missense_Mutation_p.M522I|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.M448I|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.M379I	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	463					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|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						GGAAACAGATGCCTCAGCCTA	0.318										HNSCC(4;0.00038)			C	202151266	G	C	202151266	3	2	218	1	0	0	0	0	1	0	0	0	2677	1319	46	5	1700	5	CASP8	2	202151266	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	25133829	202151266	41048107	18	113684											
COL6A3	1293	broad.mit.edu	37	chr2	238249128	238249128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaacagcctcccgaagcGcatcaaaggctcctcgttga	10	14	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr2:238249128G>A	uc002vwl.2	-	38	8716	c.8431C>T	c.(8431-8433)CGC>TGC	p.R2811C	COL6A3_uc002vwo.2_Missense_Mutation_p.R2605C|COL6A3_uc010znj.1_Missense_Mutation_p.R2204C|COL6A3_uc002vwj.2_Missense_Mutation_p.R192C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2811	VWFA 12.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CTCCCGAAGCGCATCAAAGGC	0.552													A	238249128	G	A	238249128	3	1	218	1	0	0	0	0	1	0	0	0	3701	1087	38	1	1130	1	COL6A3	2	238249128	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	36097862	238249128	4950245	19	113685											
GNL3	26354	broad.mit.edu	37	chr3	52725622	52725622	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaacagatgtgtaatgtTggtgtatccatggggcttac	12	6	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr3:52725622T>G	uc003dfd.2	+	9	1019	c.846T>G	c.(844-846)GTT>GTG	p.V282V	GNL3_uc003dfe.2_Silent_p.V270V|GNL3_uc003dff.2_Silent_p.V270V|SNORD69_uc003dfh.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	282	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TGTGTAATGTTGGTGTATCCA	0.338													G	52725622	T	G	52725622	2	3	218	1	0	0	0	0	0	0	0	1	6537	1799	63	5		5	GNL3	3	52725622	Silent	SNP	T	TCGA-D7-8570-01A-11D-2340-08		52725622	145296808	20	113686											
CEP63	80254	broad.mit.edu	37	chr3	134276999	134276999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attaggcaaaagagatttcaCtagcagacctccaggagaat	9	8	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr3:134276999C>G	uc003eqo.1	+	14	1932	c.1483C>G	c.(1483-1485)CTA>GTA	p.L495V	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	495	Potential.				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			ovary(1)	1						AGAGATTTCACTAGCAGACCT	0.338													G	134276999	C	G	134276999	3	3	218	1	0	0	0	0	1	0	0	0	3257	564	20	5	1529	5	CEP63	3	134276999	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	81551377	134276999	63745431	21	113687											
KIAA1109	84162	broad.mit.edu	37	chr4	123161241	123161241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttcatttgtttctgcGttaggtggagaagatgatgt	13	5	2	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr4:123161241G>A	uc003ieh.2	+	27	4449	c.4404G>A	c.(4402-4404)GCG>GCA	p.A1468A	KIAA1109_uc003iei.1_Silent_p.A1221A|KIAA1109_uc010ins.1_Silent_p.A811A|KIAA1109_uc003iek.2_Silent_p.A87A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1468					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTGTTTCTGCGTTAGGTGGAG	0.418													A	123161241	G	A	123161241	2	1	218	1	0	0	0	0	0	0	0	1	8208	1132	40	1		1	KIAA1109	4	123161241	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08		123161241	67993035	22	113688											
PCDH10	57575	broad.mit.edu	37	chr4	134072398	134072398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgaaggaagcggtgaGtgagggcgcggcgcccggca	19	11	0	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr4:134072398G>T	uc003iha.2	+	1	1929	c.1103G>T	c.(1102-1104)AGT>ATT	p.S368I	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.S368I	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	368	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGCGGTGAGTGAGGGCGCG	0.627													T	134072398	G	T	134072398	3	4	218	1	0	0	0	0	1	0	0	0	11507	1029	36	5	1105	5	PCDH10	4	134072398	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	10911157	134072398	57081878	23	113689											
INPP4B	8821	broad.mit.edu	37	chr4	143007328	143007328	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccacataatttctacattcTttctttttttggattggata	5	7	3	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr4:143007328T>A	uc003iix.3	-	25	3051	c.2456A>T	c.(2455-2457)AAG>ATG	p.K819M	INPP4B_uc003iiw.3_Missense_Mutation_p.K819M|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.K634M|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	819					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					TTCTACATTCTTTCTTTTTTT	0.333													A	143007328	T	A	143007328	3	1	218	1	0	0	0	0	1	0	0	0	7753	1609	56	5	330	5	INPP4B	4	143007328	Missense_Mutation	SNP	T	TCGA-D7-8570-01A-11D-2340-08	8934930	143007328	48146948	24	113690											
FGG	2266	broad.mit.edu	37	chr4	155533323	155533323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagtagacaggaaatctgCaatgccacaggtagttggac	11	7	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr4:155533323C>T	uc003ioj.2	-	3	295	c.154G>A	c.(154-156)GCA>ACA	p.A52T	FGG_uc003iog.2_Missense_Mutation_p.A52T|FGG_uc003ioh.2_Missense_Mutation_p.A52T|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.A52T	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	52					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				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGAAATCTGCAATGCCACAG	0.328													T	155533323	C	T	155533323	3	4	218	1	0	0	0	0	1	0	0	0	5870	710	25	2	1254	2	FGG	4	155533323	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	12525995	155533323	35620953	25	113691											
CDH9	1007	broad.mit.edu	37	chr5	26988325	26988325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccgtcatcttttgtcagaCccgctatctttttgcttgat	6	11	4	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr5:26988325C>A	uc003jgs.1	-	2	285	c.116G>T	c.(115-117)GGT>GTT	p.G39V	CDH9_uc010iug.2_Missense_Mutation_p.G39V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	39					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTTTGTCAGACCCGCTATCTT	0.393													A	26988325	C	A	26988325	3	1	218	1	0	0	0	0	1	0	0	0	3117	507	18	5	2297	5	CDH9	5	26988325	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08		26988325	153926935	26	113692											
NUP155	9631	broad.mit.edu	37	chr5	37333694	37333694	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctactttcaattcatctatCgcagaaagagcccaggaatg	7	10	4	2	rs142662644	byFrequency	TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr5:37333694C>T	uc003jku.1	-	13	1507	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	NUP155_uc003jkt.1_Silent_p.A404A|NUP155_uc010iuz.1_Silent_p.A463A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	463					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			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCATCTATCGCAGAAAGAG	0.328													T	37333694	C	T	37333694	2	4	218	1	0	0	0	0	0	0	0	1	10756	871	31	1		1	NUP155	5	37333694	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	10345369	37333694	143581566	27	113693											
OXCT1	5019	broad.mit.edu	37	chr5	41862794	41862794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttttacagcttctactGgatctgtataaaacttggta	7	7	3	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr5:41862794G>A	uc003jmn.2	-	2	468	c.137C>T	c.(136-138)CCA>CTA	p.P46L		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	46					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	AGCTTCTACTGGATCTGTATA	0.358													A	41862794	G	A	41862794	3	1	218	1	0	0	0	0	1	0	0	0	11329	1348	47	4	1489	4	OXCT1	5	41862794	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	4529100	41862794	139052466	28	113694											
PCDHA10	56139	broad.mit.edu	37	chr5	140237313	140237313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggacgagaacgacaaCgctcccgcgctgctggcgtc	14	14	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr5:140237313C>T	uc003lhx.2	+	1	1680	c.1680C>T	c.(1678-1680)AAC>AAT	p.N560N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.N560N	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	560	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCTCCCGCGC	0.682													T	140237313	C	T	140237313	2	4	218	1	0	0	0	0	0	0	0	1	11520	535	19	1		1	PCDHA10	5	140237313	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	98374519	140237313	40677947	29	113695											
PCDHB2	56133	broad.mit.edu	37	chr5	140474846	140474846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactactttcttaatagaaCgtgcccaggacttggatgta	9	8	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr5:140474846C>T	uc003lil.2	+	1	610	c.472C>T	c.(472-474)CGT>TGT	p.R158C	PCDHB2_uc003lim.1_Translation_Start_Site	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	158	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTAATAGAACGTGCCCAGGA	0.383													T	140474846	C	T	140474846	3	4	218	1	0	0	0	0	1	0	0	0	11542	536	19	1	474	1	PCDHB2	5	140474846	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	237533	140474846	40440414	30	113696											
PRSS16	10279	broad.mit.edu	37	chr6	27215755	27215755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggccaggtgctgcagcCctcccaaaagtggggtggct	16	12	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:27215755C>T	uc003nja.2	+	2	177	c.165C>T	c.(163-165)GCC>GCT	p.A55A	PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Silent_p.A55A|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	55					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)|skin(1)	5						GTGCTGCAGCCCTCCCAAAAG	0.637													T	27215755	C	T	27215755	2	4	218	1	0	0	0	0	0	0	0	1	12616	610	22	4		4	PRSS16	6	27215755	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08		27215755	143899312	31	113697											
OR2B3	442184	broad.mit.edu	37	chr6	29054811	29054811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtagttgtggtatagCagagatctaagatggagaga	15	3	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:29054811C>T	uc003nlx.2	-	1	280	c.215G>A	c.(214-216)TGC>TAC	p.C72Y		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1						TGTGGTATAGCAGAGATCTAA	0.423													T	29054811	C	T	29054811	3	4	218	1	0	0	0	0	1	0	0	0	10990	710	25	2	730	2	OR2B3	6	29054811	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	1839056	29054811	142060256	32	113698											
VARS	7407	broad.mit.edu	37	chr6	31760235	31760246	+	In_Frame_Del	DEL	TTTCTTTGCCTC	TTTCTTTGCCTC	-													aatttctctagcttctcccgTttctttgcctctttcttgag							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:31760234_31760245GTTTCTTTGCCTC>G	uc003nxe.3	-	4	1133_1144	c.710_721GAGGCAAAGAAAC>C	c.(709-723)gaggcaaagaaacgg>gCgg	p.237_241EAKKR>A	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	237					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)	AGCTTCTCCCGTTTCTTTGCCTCTTTCTTGAG	0.561													-	31760246	TTTCTTTGCCTC	-	31760235	7	5	218	1	0	1	0	1	0	0	0	0	17120	1722	60	0	3178	0	VARS	6	31760235	In_Frame_Del	DEL	TTTCTTTGCCTC	TCGA-D7-8570-01A-11D-2340-08	2705424	31760235	139354832	33	113699											
LRFN2	57497	broad.mit.edu	37	chr6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagctgccaaaagtccccCgggcccccaccaggtcactc	10	19	1	0	rs146316351	byFrequency	TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:40359728C>T	uc003oph.1	-	3	2789	c.2324G>A	c.(2323-2325)CGG>CAG	p.R775Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	775	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607													T	40359728	C	T	40359728	3	4	218	1	0	0	0	0	1	0	0	0	8938	652	23	1	49	1	LRFN2	6	40359728	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	8599493	40359728	130755339	34	113700											
MRPS10	55173	broad.mit.edu	37	chr6	42185576	42185576	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacagcaccgaacgctgtCcgcgccgccatcttgccggt	10	18	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:42185576C>T	uc003osa.3	-	1	58	c.12G>A	c.(10-12)CGG>CGA	p.R4R	MRPS10_uc011dup.1_5'UTR	NM_018141	NP_060611	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	4					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome				0	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CGAACGCTGTCCGCGCCGCCA	0.592													T	42185576	C	T	42185576	2	4	218	1	0	0	0	0	0	0	0	1	9821	842	30	4		4	MRPS10	6	42185576	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	1825848	42185576	128929491	35	113701											
EYS	346007	broad.mit.edu	37	chr6	66204885	66204885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgtcccaacactcagcCacttagaattaacagtgtgc	7	11	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:66204885C>A	uc011dxu.1	-	4	957	c.419G>T	c.(418-420)TGG>TTG	p.W140L	EYS_uc003peq.2_Missense_Mutation_p.W140L|EYS_uc003per.1_Missense_Mutation_p.W140L|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	140					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AACACTCAGCCACTTAGAATT	0.423													A	66204885	C	A	66204885	3	1	218	1	0	0	0	0	1	0	0	0	5332	595	21	5	9137	5	EYS	6	66204885	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	24019309	66204885	104910182	36	113702											
RIMS1	22999	broad.mit.edu	37	chr6	72984077	72984077	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtccccctccctagatAggagacgacctcctagtccc	9	16	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:72984077A>T	uc003pga.2	+	23	3501	c.3424A>T	c.(3424-3426)AGG>TGG	p.R1142W	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Missense_Mutation_p.R295W|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1142					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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCCCTAGATAGGAGACGACC	0.463													T	72984077	A	T	72984077	3	4	218	1	0	0	0	0	1	0	0	0	13367	411	15	5	3677	5	RIMS1	6	72984077	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	6779192	72984077	98130990	37	113703											
OPRM1	4988	broad.mit.edu	37	chr6	154439830	154439830	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctttcagctagaaaatctgGaagcagaaactgctccgttg	9	10	2	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr6:154439830G>T	uc003qpr.2	+	4	1414	c.1177G>T	c.(1177-1179)GAA>TAA	p.E393*	OPRM1_uc011efc.1_Nonsense_Mutation_p.E312*|OPRM1_uc011efd.1_Nonsense_Mutation_p.E293*|OPRM1_uc011efe.1_Nonsense_Mutation_p.E486*|OPRM1_uc003qpt.1_Intron|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Nonsense_Mutation_p.E293*	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	393	Cytoplasmic (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		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)	AGAAAATCTGGAAGCAGAAAC	0.458													T	154439830	G	T	154439830	4	4	218	1	0	0	0	0	0	1	0	0	10887	1175	41	5	1981	5	OPRM1	6	154439830	Nonsense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	81455753	154439830	16675237	38	113704											
NUPL2	11097	broad.mit.edu	37	chr7	23221774	23221774	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctggaacgaacatcccGgtgctaggggtgcaggagga	18	8	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:23221774G>C	uc003svu.2	+	1	329	c.70G>C	c.(70-72)GGT>CGT	p.G24R	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_5'UTR|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	24	C3H1-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						CGAACATCCCGGTGCTAGGGG	0.627													C	23221774	G	C	23221774	3	2	218	1	0	0	0	0	1	0	0	0	10775	1116	39	5	72	5	NUPL2	7	23221774	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08		23221774	135916889	39	113705											
OSBPL3	26031	broad.mit.edu	37	chr7	24905023	24905023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaactcgtgtctcaccaCcacaagaaaatgatacattg	7	10	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:24905023C>T	uc003sxf.2	-	7	1016	c.611G>A	c.(610-612)GGT>GAT	p.G204D	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.G204D|OSBPL3_uc003sxh.2_Missense_Mutation_p.G204D|OSBPL3_uc003sxi.2_Missense_Mutation_p.G204D	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	204					lipid transport		lipid binding|protein binding			skin(1)	1						TGTCTCACCACCACAAGAAAA	0.403													T	24905023	C	T	24905023	3	4	218	1	0	0	0	0	1	0	0	0	11279	507	18	4	2120	4	OSBPL3	7	24905023	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	1683249	24905023	134233640	40	113706											
POM121L12	285877	broad.mit.edu	37	chr7	53103907	53103907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagactctgctgggggcGctcagccagtgccccaaggg	17	13	2	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:53103907G>A	uc003tpz.2	+	1	559	c.543G>A	c.(541-543)GCG>GCA	p.A181A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	181											0						TGCTGGGGGCGCTCAGCCAGT	0.582													A	53103907	G	A	53103907	2	1	218	1	0	0	0	0	0	0	0	1	12241	1074	38	1		1	POM121L12	7	53103907	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	28198884	53103907	106034756	41	113707											
POM121	9883	broad.mit.edu	37	chr7	72399003	72399003	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcttcttttgtgcctaAgtaagtgggagtccatccgg	11	12	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:72399003A>T	uc003twk.2	+	4	1103	c.1103A>T	c.(1102-1104)AAG>ATG	p.K368M	POM121_uc003twj.2_Missense_Mutation_p.K103M|POM121_uc010lam.1_Missense_Mutation_p.K103M	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	368	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					0		Lung NSC(55;0.163)				TTTGTGCCTAAGTAAGTGGGA	0.468													T	72399003	A	T	72399003	3	4	218	1	0	0	0	0	1	0	0	0	12239	86	3	5	318	5	POM121	7	72399003	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	19295096	72399003	86739660	42	113708											
CDK14	5218	broad.mit.edu	37	chr7	90419944	90419944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggaagaagaagggaCacctttcacagctatcaggg	13	9	2	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:90419944C>T	uc003uky.2	+	5	743	c.521C>T	c.(520-522)ACA>ATA	p.T174I	CDK14_uc003ukt.1_Missense_Mutation_p.T128I|CDK14_uc003ukv.1_Missense_Mutation_p.T128I|CDK14_uc003uku.1_Missense_Mutation_p.T128I|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Missense_Mutation_p.T156I|CDK14_uc010les.1_Missense_Mutation_p.T128I|CDK14_uc011khl.1_Missense_Mutation_p.T45I	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	174	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			lung(3)|ovary(1)	4						GAAGAAGGGACACCTTTCACA	0.408													T	90419944	C	T	90419944	3	4	218	1	0	0	0	0	1	0	0	0	3130	478	17	4	481	4	CDK14	7	90419944	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	18020941	90419944	68718719	43	113709											
FZD1	8321	broad.mit.edu	37	chr7	90896065	90896065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcttctggatctggtccGgcaagaccctcaactcctgg	12	14	3	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:90896065G>A	uc003ula.2	+	1	2283	c.1870G>A	c.(1870-1872)GGC>AGC	p.G624S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	624	Cytoplasmic (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GATCTGGTCCGGCAAGACCCT	0.597													A	90896065	G	A	90896065	3	1	218	1	0	0	0	0	1	0	0	0	6128	1116	39	1	1872	1	FZD1	7	90896065	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	476121	90896065	68242598	44	113710											
TES	26136	broad.mit.edu	37	chr7	115889259	115889273	+	In_Frame_Del	DEL	CCAAGAAGAATGTCT	CCAAGAAGAATGTCT	-													attgacgaatccagttgctgCcaagaagaatgtctccatca					rs62621959		TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:115889258_115889272GCCAAGAAGAATGTCT>G	uc003vho.3	+	2	513_527	c.298_312GCCAAGAAGAATGTCT>G	c.(298-312)gccaagaagaatgtc>G	p.AKKNV100del	TES_uc011kmx.2_In_Frame_Del_p.AKKNV100del|TES_uc011kmy.2_Intron|TES_uc010lka.2_In_Frame_Del_p.AKKNV91del|TES_uc003vhp.3_In_Frame_Del_p.AKKNV91del|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	100	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TCCAGTTGCTGCCAAGAAGAATGTCTCCATCAATA	0.391													-	115889273	CCAAGAAGAATGTCT	-	115889259	7	5	218	1	0	1	0	1	0	0	0	0	15762	739	26	0	309	0	TES	7	115889259	In_Frame_Del	DEL	CCAAGAAGAATGTCT	TCGA-D7-8570-01A-11D-2340-08	24993194	115889259	43249404	45	113711											
FLNC	2318	broad.mit.edu	37	chr7	128487899	128487899	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccgggcgcccctgcaggtGgctgtgctgggccccacagg	18	15	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:128487899G>C	uc003vnz.3	+	25	4646	c.4437G>C	c.(4435-4437)GTG>GTC	p.V1479V	FLNC_uc003voa.3_Silent_p.V1479V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1479	Filamin 13.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCCTGCAGGTGGCTGTGCTGG	0.697													C	128487899	G	C	128487899	2	2	218	1	0	0	0	0	0	0	0	1	5935	1335	47	5		5	FLNC	7	128487899	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	12598640	128487899	30650764	46	113712											
KRBA1	84626	broad.mit.edu	37	chr7	149430833	149430833	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgggctccactgcagctcTtcccagcagctgctgtcctc	9	18	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:149430833T>A	uc003wfz.2	+	18	3189	c.2790T>A	c.(2788-2790)TCT>TCA	p.S930S	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.S537S	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	930	Pro-rich.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTGCAGCTCTTCCCAGCAGC	0.692													A	149430833	T	A	149430833	2	1	218	1	0	0	0	0	0	0	0	1	8439	1596	56	5		5	KRBA1	7	149430833	Silent	SNP	T	TCGA-D7-8570-01A-11D-2340-08	20942934	149430833	9707830	47	113713											
GIMAP1	170575	broad.mit.edu	37	chr7	150417616	150417616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaaccgggccttgcGcgagctggtggccgagtgcg	17	12	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr7:150417616G>A	uc003whq.2	+	3	611	c.524G>A	c.(523-525)CGC>CAC	p.R175H	GIMAP1_uc003whp.2_Missense_Mutation_p.R183H	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	175	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCCTTGCGCGAGCTGGTG	0.652													A	150417616	G	A	150417616	3	1	218	1	0	0	0	0	1	0	0	0	6379	1087	38	1	530	1	GIMAP1	7	150417616	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	986783	150417616	8721047	48	113714											
ST18	9705	broad.mit.edu	37	chr8	53073962	53073962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggtggtgtttttcgtcCttgcactgtttgtatgagag	12	5	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr8:53073962C>T	uc003xqz.2	-	9	1723	c.1567G>A	c.(1567-1569)GGA>AGA	p.G523R	ST18_uc011ldq.1_Missense_Mutation_p.G170R|ST18_uc011ldr.1_Missense_Mutation_p.G488R|ST18_uc011lds.1_Missense_Mutation_p.G428R|ST18_uc003xra.2_Missense_Mutation_p.G523R|ST18_uc003xrb.2_Missense_Mutation_p.G523R	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	523						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTTTTTCGTCCTTGCACTGTT	0.428													T	53073962	C	T	53073962	3	4	218	1	0	0	0	0	1	0	0	0	15211	690	24	4	1628	4	ST18	8	53073962	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08		53073962	93290060	49	113715											
C8orf34	116328	broad.mit.edu	37	chr8	69434170	69434170	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagcaaaaatgaccaatGggaaagtgaagatagtggct	12	4	0	4			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr8:69434170G>A	uc010lyz.2	+	6	693	c.644G>A	c.(643-645)TGG>TAG	p.W215*	C8orf34_uc010lyy.1_Nonsense_Mutation_p.W215*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.W190*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	215					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AATGACCAATGGGAAAGTGAA	0.418													A	69434170	G	A	69434170	4	1	218	1	0	0	0	0	0	1	0	0	2422	1357	47	4	587	4	C8orf34	8	69434170	Nonsense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	16360208	69434170	76929852	50	113716											
ZNF704	619279	broad.mit.edu	37	chr8	81605248	81605248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcttaccgttcggccGcacgggaggacttcgaacca	13	14	0	0	rs148333158		TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr8:81605248G>A	uc003yby.1	-	3	548	c.316C>T	c.(316-318)CGG>TGG	p.R106W		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	106						intracellular	zinc ion binding				0	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)			CCGTTCGGCCGCACGGGAGGA	0.522													A	81605248	G	A	81605248	3	1	218	1	0	0	0	0	1	0	0	0	18104	1086	38	1	950	1	ZNF704	8	81605248	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	12171078	81605248	64758774	51	113717											
ZFPM2	23414	broad.mit.edu	37	chr8	106814853	106814853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggacgaccacgtctcccaAaaggctgctggactatcacg	11	14	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr8:106814853A>G	uc003ymd.2	+	8	2566	c.2543A>G	c.(2542-2544)AAA>AGA	p.K848R	ZFPM2_uc011lhs.1_Missense_Mutation_p.K579R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	848					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACGTCTCCCAAAAGGCTGCTG	0.478													G	106814853	A	G	106814853	3	3	218	1	0	0	0	0	1	0	0	0	17655	14	1	3	2573	3	ZFPM2	8	106814853	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	25209605	106814853	39549169	52	113718											
PKHD1L1	93035	broad.mit.edu	37	chr8	110455187	110455187	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatggcaggttcattttcttAccaatttacttctcctggaa	6	9	3	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr8:110455187A>T	uc003yne.2	+	36	4510	c.4406A>T	c.(4405-4407)TAC>TTC	p.Y1469F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1469	Extracellular (Potential).|IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATTTTCTTACCAATTTACT	0.323										HNSCC(38;0.096)			T	110455187	A	T	110455187	3	4	218	1	0	0	0	0	1	0	0	0	11972	391	14	5	4548	5	PKHD1L1	8	110455187	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	3640334	110455187	35908835	53	113719											
PARP10	84875	broad.mit.edu	37	chr8	145059422	145059422	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccagctcctcgggctccaGgatgtcgtagtgggggacaa	15	11	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr8:145059422G>C	uc003zal.3	-	5	856	c.748C>G	c.(748-750)CTG>GTG	p.L250V	PARP10_uc003zak.3_5'UTR|PARP10_uc011lku.1_Missense_Mutation_p.L262V|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.L250V|PARP10_uc010mfn.1_Missense_Mutation_p.L165V|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	250						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			TCGGGCTCCAGgatgtcgtag	0.333													C	145059422	G	C	145059422	3	2	218	1	0	0	0	0	1	0	0	0	11455	991	35	5	2357	5	PARP10	8	145059422	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	34604235	145059422	1304600	54	113720											
CNTLN	54875	broad.mit.edu	37	chr9	17484457	17484457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtcagatttagaggaaatAttagacacagaagatcaagt	10	5	2	5			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr9:17484457A>G	uc003zmz.2	+	24	4043	c.4017A>G	c.(4015-4017)ATA>ATG	p.I1339M	CNTLN_uc003zmy.2_Missense_Mutation_p.I1340M|CNTLN_uc010mio.2_Missense_Mutation_p.I1019M	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1340						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TAGAGGAAATATTAGACACAG	0.333													G	17484457	A	G	17484457	3	3	218	1	0	0	0	0	1	0	0	0	3639	439	16	3	4144	3	CNTLN	9	17484457	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08		17484457	123728974	55	113721											
GOLGA1	2800	broad.mit.edu	37	chr9	127643517	127643517	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agttcagcaacactgacacaGcttttataagatgaaaagcc	7	9	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr9:127643517G>C	uc004bpc.2	-	22	2498	c.2156C>G	c.(2155-2157)GCT>GGT	p.A719G	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	719	GRIP.					Golgi cisterna membrane				ovary(1)	1						CACTGACACAGCTTTTATAAG	0.493													C	127643517	G	C	127643517	3	2	218	1	0	0	0	0	1	0	0	0	6551	971	34	5	155	5	GOLGA1	9	127643517	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	110159060	127643517	13569914	56	113722											
SCAI	286205	broad.mit.edu	37	chr9	127734104	127734104	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaagagagtgaagagGctacctcgctgagattgatc	11	7	1	5			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr9:127734104G>C	uc004bpe.2	-	16	1500	c.1419C>G	c.(1417-1419)AGC>AGG	p.S473R	SCAI_uc004bpd.2_Missense_Mutation_p.S496R|SCAI_uc010mwu.2_Intron	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	473	Helical; (Potential).				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			ovary(2)|breast(2)|central_nervous_system(1)	5						GAGTGAAGAGGCTACCTCGCT	0.358													C	127734104	G	C	127734104	3	2	218	1	0	0	0	0	1	0	0	0	13869	1194	42	5	413	5	SCAI	9	127734104	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	90587	127734104	13479327	57	113723											
ZWINT	11130	broad.mit.edu	37	chr10	58120068	58120068	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acataccaccacaaactcaaCcaggatcttggctggcagtt	7	13	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:58120068C>G	uc001jjx.1	-	2	155	c.118G>C	c.(118-120)GTT>CTT	p.V40L	ZWINT_uc001jjy.1_Missense_Mutation_p.V40L|ZWINT_uc001jka.1_Missense_Mutation_p.V40L|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	40					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						ACAAACTCAACCAGGATCTTG	0.572													G	58120068	C	G	58120068	3	3	218	1	0	0	0	0	1	0	0	0	18246	507	18	5	743	5	ZWINT	10	58120068	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08		58120068	77414679	58	113724											
HK1	3098	broad.mit.edu	37	chr10	71142523	71142523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagatgctgccctccttcGtccggagaactcccgacggg	11	14	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:71142523G>A	uc001jpl.3	+	10	1647	c.1546G>A	c.(1546-1548)GTC>ATC	p.V516I	HK1_uc001jpg.3_Missense_Mutation_p.V504I|HK1_uc001jph.3_Missense_Mutation_p.V520I|HK1_uc001jpi.3_Missense_Mutation_p.V520I|HK1_uc001jpj.3_Missense_Mutation_p.V551I|HK1_uc001jpk.3_Missense_Mutation_p.V515I|HK1_uc009xqd.2_Missense_Mutation_p.V394I	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	516	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GCCCTCCTTCGTCCGGAGAAC	0.632													A	71142523	G	A	71142523	3	1	218	1	0	0	0	0	1	0	0	0	7190	1145	40	1	1762	1	HK1	10	71142523	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	13022455	71142523	64392224	59	113725											
SAR1A	56681	broad.mit.edu	37	chr10	71921409	71921409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaacatgttggcccaatctGtcatctttgagcatgtgaag	11	8	3	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:71921409G>C	uc010qjh.1	-	4	347	c.144C>G	c.(142-144)GAC>GAG	p.D48E	SAR1A_uc010qji.1_Missense_Mutation_p.D48E|SAR1A_uc010qjj.1_Missense_Mutation_p.D5E	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN	SAR1a gene homolog 1	48					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0						GGCCCAATCTGTCATCTTTGA	0.388													C	71921409	G	C	71921409	3	2	218	1	0	0	0	0	1	0	0	0	13839	1368	48	5	472	5	SAR1A	10	71921409	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	778886	71921409	63613338	60	113726											
BTAF1	9044	broad.mit.edu	37	chr10	93753597	93753597	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaatacaatcgacataaaTaattttggtatacacatatt	5	5	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:93753597T>A	uc001khr.2	+	22	3290	c.3192T>A	c.(3190-3192)AAT>AAA	p.N1064K	BTAF1_uc001kht.1_Missense_Mutation_p.N502K	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1064					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TCGACATAAATAATTTTGGTA	0.323													A	93753597	T	A	93753597	3	1	218	1	0	0	0	0	1	0	0	0	1536	1403	49	5	3278	5	BTAF1	10	93753597	Missense_Mutation	SNP	T	TCGA-D7-8570-01A-11D-2340-08	21832188	93753597	41781150	61	113727											
RBP4	5950	broad.mit.edu	37	chr10	95360237	95360237	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgaaggtgcccaccatgtCtgcgcacacgtcccagttac	10	14	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:95360237C>T	uc001kit.2	-	4	352	c.268G>A	c.(268-270)GAC>AAC	p.D90N		NM_006744	NP_006735	P02753	RET4_HUMAN	retinol-binding protein 4, plasma precursor	90					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding				0		Colorectal(252;0.122)			Vitamin A(DB00162)	CCCACCATGTCTGCGCACACG	0.582													T	95360237	C	T	95360237	3	4	218	1	0	0	0	0	1	0	0	0	13158	913	32	4	349	4	RBP4	10	95360237	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	1606640	95360237	40174510	62	113728											
ABCC2	1244	broad.mit.edu	37	chr10	101590129	101590129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtgtggaagagatccccGaagatgcagcctccataacc	10	13	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:101590129G>A	uc001kqf.2	+	20	2825	c.2686G>A	c.(2686-2688)GAA>AAA	p.E896K		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	896	Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		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)	AGAGATCCCCGAAGATGCAGC	0.507													A	101590129	G	A	101590129	3	1	218	1	0	0	0	0	1	0	0	0	53	1059	37	1	2764	1	ABCC2	10	101590129	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	6229892	101590129	33944618	63	113729											
GFRA1	2674	broad.mit.edu	37	chr10	117884945	117884945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttgcggcggttgcagAcatcgttggacacgctggtg	16	10	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:117884945A>G	uc001lcj.2	-	6	1255	c.557T>C	c.(556-558)GTC>GCC	p.V186A	GFRA1_uc001lci.2_Missense_Mutation_p.V181A|GFRA1_uc009xyr.2_Missense_Mutation_p.V181A	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	186	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		GCGGTTGCAGACATCGTTGGA	0.597													G	117884945	A	G	117884945	3	3	218	1	0	0	0	0	1	0	0	0	6347	275	10	3	864	3	GFRA1	10	117884945	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	16294816	117884945	17649802	64	113730											
NKX6-2	84504	broad.mit.edu	37	chr10	134598811	134598811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctctcggtcatgcccagCgagtaggcgagacgcgcgcg	16	13	2	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr10:134598811C>T	uc001llr.2	-	2	637	c.552G>A	c.(550-552)TCG>TCA	p.S184S		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	NK6 transcription factor related, locus 2	184	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity				0		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)		TCATGCCCAGCGAGTAGGCGA	0.692													T	134598811	C	T	134598811	2	4	218	1	0	0	0	0	0	0	0	1	10458	755	27	1		1	NKX6-2	10	134598811	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	16713866	134598811	935936	65	113731											
MUC5B	727897	broad.mit.edu	37	chr11	1155765	1155765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagctgaccaagggctcCgtcctggtcaacggccaccc	10	17	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:1155765C>T	uc009ycr.1	+	5	579	c.453C>T	c.(451-453)TCC>TCT	p.S151S		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	147	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CCAAGGGCTCCGTCCTGGTCA	0.662													T	1155765	C	T	1155765	2	4	218	1	0	0	0	0	0	0	0	1	9979	667	23	1		1	MUC5B	11	1155765	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08		1155765	133850751	66	113732											
OR52J3	119679	broad.mit.edu	37	chr11	5068474	5068484	+	Frame_Shift_Del	DEL	GCACGTGTGGC	GCACGTGTGGC	-													tgctcagctaaaagccctaaGcacgtgtggcgctcatgttg					rs61731854	byFrequency	TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:5068473_5068483AGCACGTGTGGC>A	uc010qyv.2	+	0	718_728	c.718_728AGCACGTGTGGC>A	c.(718-729)agcacgtgtggcfs	p.S240fs		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T241T(2)		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)		AAAAGCCCTAAGCACGTGTGGCGCTCATGTT	0.445													-	5068484	GCACGTGTGGC	-	5068474	7	5	218	1	0	1	0	1	0	0	0	0	11122	971	34	0	721	0	OR52J3	11	5068474	Frame_Shift_Del	DEL	GCACGTGTGGC	TCGA-D7-8570-01A-11D-2340-08	3912709	5068474	129938042	67	113733											
LIN7C	55327	broad.mit.edu	37	chr11	27528282	27528282	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctctccagccgcacgggTtcccctagcgccgccatctt	8	20	2	0	rs142535769	by1000genomes	TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:27528282T>C	uc001mrl.2	-	1	45	c.18A>G	c.(16-18)GAA>GAG	p.E6E	LIN7C_uc009yii.2_Silent_p.E6E|BDNFOS_uc001mrm.2_5'Flank|BDNFOS_uc009yij.2_5'Flank|BDNFOS_uc009yik.2_5'Flank|BDNFOS_uc009yil.2_5'Flank|BDNFOS_uc001mrp.2_5'Flank|BDNFOS_uc009yim.2_5'Flank|BDNFOS_uc009yin.2_5'Flank|BDNFOS_uc009yio.2_5'Flank|BDNFOS_uc009yip.2_5'Flank|BDNFOS_uc001mrn.2_5'Flank|BDNFOS_uc009yiq.2_5'Flank|BDNFOS_uc001mro.2_5'Flank|BDNFOS_uc009yir.2_5'Flank|BDNFOS_uc009yis.2_5'Flank|BDNFOS_uc009yit.2_5'Flank|BDNFOS_uc009yiu.2_5'Flank|BDNFOS_uc009yiv.2_5'Flank|BDNFOS_uc009yiw.2_5'Flank|BDNFOS_uc009yix.2_5'Flank|BDNFOS_uc009yiy.2_5'Flank|BDNFOS_uc009yiz.2_5'Flank|BDNFOS_uc001mrq.3_5'Flank|BDNFOS_uc001mrr.3_5'Flank|BDNFOS_uc009yja.2_5'Flank|BDNFOS_uc009yjb.2_5'Flank	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	6	Kinase interacting site (By similarity).				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						GCCGCACGGGTTCCCCTAGCG	0.662													C	27528282	T	C	27528282	2	2	218	1	0	0	0	0	0	0	0	1	8812	1722	60	3		3	LIN7C	11	27528282	Silent	SNP	T	TCGA-D7-8570-01A-11D-2340-08	22459808	27528282	107478234	68	113734											
PTPRJ	5795	broad.mit.edu	37	chr11	48177352	48177352	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttttcttttaatgtcacaGatgatatttcccgtgtcaaa	5	7	3	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:48177352G>C	uc001ngp.3	+	20	3585	c.3230_splice	c.e20-1	p.Y1077_splice		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J						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)|kidney(3)|ovary(1)|skin(1)	8						TAATGTCACAGATGATATTTC	0.388													C	48177352	G	C	48177352	5	2	218	1	0	0	0	0	0	0	1	0	12804	956	33	5	3316	5	PTPRJ	11	48177352	Splice_Site	SNP	G	TCGA-D7-8570-01A-11D-2340-08	20649070	48177352	86829164	69	113735											
MS4A15	219995	broad.mit.edu	37	chr11	60531284	60531284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcctctgcccacctccGgccattctgcccacatccat	7	19	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:60531284G>A	uc009ynf.1	+	2	298	c.78G>A	c.(76-78)CCG>CCA	p.P26P	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Silent_p.P26P	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	26						integral to membrane	receptor activity			lung(1)	1						GCCCACCTCCGGCCATTCTGC	0.602													A	60531284	G	A	60531284	2	1	218	1	0	0	0	0	0	0	0	1	9859	1103	39	1		1	MS4A15	11	60531284	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	12353932	60531284	74475232	70	113736											
SCGB2A2	4250	broad.mit.edu	37	chr11	62037723	62037723	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcatgctggcggcccTctcccagcactgctacgcag	11	17	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:62037723T>A	uc001ntc.2	+	1	94	c.35T>A	c.(34-36)CTC>CAC	p.L12H	SCGB2A2_uc009ynx.2_Missense_Mutation_p.L12H	NM_002411	NP_002402	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2 precursor	12						extracellular region	steroid binding			ovary(1)	1						CTGGCGGCCCTCTCCCAGCAC	0.607													A	62037723	T	A	62037723	3	1	218	1	0	0	0	0	1	0	0	0	13900	1551	54	5	37	5	SCGB2A2	11	62037723	Missense_Mutation	SNP	T	TCGA-D7-8570-01A-11D-2340-08	1506439	62037723	72968793	71	113737											
RSF1	51773	broad.mit.edu	37	chr11	77409649	77409649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagatgatttttcactGccagacccttcactttcatc	6	13	3	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:77409649G>A	uc001oyn.2	-	7	2718	c.2598C>T	c.(2596-2598)GGC>GGT	p.G866G	RSF1_uc001oym.2_Silent_p.G614G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	866					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			ovary(2)|central_nervous_system(2)	4	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)			ATTTTTCACTGCCAGACCCTT	0.433													A	77409649	G	A	77409649	2	1	218	1	0	0	0	0	0	0	0	1	13699	1306	46	2		2	RSF1	11	77409649	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	15371926	77409649	57596867	72	113738											
KCTD21	283219	broad.mit.edu	37	chr11	77884828	77884828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtccttttacctgtacCgtattaatcgaataatctta	7	8	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:77884828C>A	uc001ozb.2	-	2	848	c.773G>T	c.(772-774)CGG>CTG	p.R258L		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	258						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	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;1.46e-24)			TTACCTGTACCGTATTAATCG	0.498													A	77884828	C	A	77884828	3	1	218	1	0	0	0	0	1	0	0	0	8109	652	23	5	13	5	KCTD21	11	77884828	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	475179	77884828	57121688	73	113739											
GRM5	2915	broad.mit.edu	37	chr11	88781018	88781018	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttctttcaaaagtaagactGacaggatcaacagaaggacc	8	9	3	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:88781018G>C	uc001pcq.2	-	1	223	c.23C>G	c.(22-24)TCA>TGA	p.S8*	GRM5_uc009yvm.2_Nonsense_Mutation_p.S8*|GRM5_uc009yvn.1_Nonsense_Mutation_p.S8*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	8					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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGTAAGACTGACAGGATCAA	0.473													C	88781018	G	C	88781018	4	2	218	1	0	0	0	0	0	1	0	0	6800	1294	45	5	3651	5	GRM5	11	88781018	Nonsense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	10896190	88781018	46225498	74	113740											
SESN3	143686	broad.mit.edu	37	chr11	94923017	94923017	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaagatttttcagtcTttgtggcacatattccaaac	5	8	3	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:94923017T>G	uc001pfk.1	-	4	673	c.451A>C	c.(451-453)AGA>CGA	p.R151R	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Silent_p.R151R	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	151					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTTTTCAGTCTTTGTGGCACA	0.348													G	94923017	T	G	94923017	2	3	218	1	0	0	0	0	0	0	0	1	14126	1617	56	5		5	SESN3	11	94923017	Silent	SNP	T	TCGA-D7-8570-01A-11D-2340-08	6141999	94923017	40083499	75	113741											
BIRC2	329	broad.mit.edu	37	chr11	102220931	102220931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctgtagctttattcagaatCtggtttcagctagtctggga	11	7	4	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:102220931C>G	uc001pgy.2	+	2	1745	c.346C>G	c.(346-348)CTG>GTG	p.L116V	BIRC2_uc010ruq.1_Missense_Mutation_p.L67V|BIRC2_uc010rur.1_Missense_Mutation_p.L116V	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	116					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			ovary(1)|lung(1)|breast(1)	3	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)		TATTCAGAATCTGGTTTCAGC	0.413													G	102220931	C	G	102220931	3	3	218	1	0	0	0	0	1	0	0	0	1435	912	32	5	348	5	BIRC2	11	102220931	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	7297914	102220931	32785585	76	113742											
BCL9L	283149	broad.mit.edu	37	chr11	118771876	118771876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgcccatgtcctgggacAtggcttggtagggtccctgg	14	10	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:118771876A>G	uc001pug.2	-	6	3541	c.2576T>C	c.(2575-2577)ATG>ACG	p.M859T	BCL9L_uc009zal.2_Missense_Mutation_p.M854T	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	859					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			ovary(1)|pancreas(1)	2	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)		GTCCTGGGACATGGCTTGGTA	0.602													G	118771876	A	G	118771876	3	3	218	1	0	0	0	0	1	0	0	0	1382	217	8	3	1935	3	BCL9L	11	118771876	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	16550945	118771876	16234640	77	113743											
SORL1	6653	broad.mit.edu	37	chr11	121495981	121495981	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgtacgatgagctggGgtctggtgagttgcgattgc	16	8	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr11:121495981G>C	uc001pxx.2	+	46	6439	c.6359G>C	c.(6358-6360)GGG>GCG	p.G2120A	SORL1_uc010rzp.1_Missense_Mutation_p.G966A|SORL1_uc010rzq.1_Missense_Mutation_p.G735A	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	2120	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		GATGAGCTGGGGTCTGGTGAG	0.473													C	121495981	G	C	121495981	3	2	218	1	0	0	0	0	1	0	0	0	14934	1232	43	5	6541	5	SORL1	11	121495981	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	2724105	121495981	13510535	78	113744											
NTF3	4908	broad.mit.edu	37	chr12	5603686	5603686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacgctacaactcaccGcgggtcctgctgagcgacag	12	14	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:5603686G>A	uc001qnl.3	+	1	389	c.306G>A	c.(304-306)CCG>CCA	p.P102P	NTF3_uc001qnk.3_Silent_p.P115P	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	102					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						ACAACTCACCGCGGGTCCTGC	0.642													A	5603686	G	A	5603686	2	1	218	1	0	0	0	0	0	0	0	1	10696	1074	38	1		1	NTF3	12	5603686	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08		5603686	128248209	79	113745											
TAS2R20	259295	broad.mit.edu	37	chr12	11150144	11150144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataagtctggagaaattgaCgatcttgagcaaataaaata	8	4	2	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:11150144C>T	uc001qzm.2	-	1	331	c.331G>A	c.(331-333)GTC>ATC	p.V111I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	111	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						GAGAAATTGACGATCTTGAGC	0.358													T	11150144	C	T	11150144	3	4	218	1	0	0	0	0	1	0	0	0	15568	536	19	1	602	1	TAS2R20	12	11150144	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	5546458	11150144	122701751	80	113746											
PLBD1	79887	broad.mit.edu	37	chr12	14664633	14664633	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaatgtaaaaatcatccagaGactccaaaaaccctacagga	6	10	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:14664633G>C	uc001rcc.1	-	7	1018	c.857C>G	c.(856-858)TCT>TGT	p.S286C		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	286					lipid catabolic process	extracellular region	hydrolase activity				0						ATCATCCAGAGACTCCAAAAA	0.373													C	14664633	G	C	14664633	3	2	218	1	0	0	0	0	1	0	0	0	12025	942	33	5	824	5	PLBD1	12	14664633	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	3514489	14664633	119187262	81	113747											
MLL2	8085	broad.mit.edu	37	chr12	49421805	49421805	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccaggaccctcagcTtcccccttctttggctcagt	6	18	4	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:49421805T>A	uc001rta.3	-	46	14502	c.14502A>T	c.(14500-14502)GAA>GAT	p.E4834D		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4834					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GACCCTCAGCTTCCCCCTTCT	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49421805	T	A	49421805	3	1	218	1	0	0	0	0	1	0	0	0	9621	1606	56	5	2147	5	MLL2	12	49421805	Missense_Mutation	SNP	T	TCGA-D7-8570-01A-11D-2340-08	34757172	49421805	84430090	82	113748											
PFDN5	5204	broad.mit.edu	37	chr12	53689700	53689700	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggaagccaaggactgtctGaacgtgctgaacaagagcaa	13	8	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:53689700G>C	uc001scl.2	+	2	267	c.150G>C	c.(148-150)CTG>CTC	p.L50L	PFDN5_uc001scm.2_Intron|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	50					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						AGGACTGTCTGAACGTGCTGA	0.537													C	53689700	G	C	53689700	2	2	218	1	0	0	0	0	0	0	0	1	11758	1277	45	5		5	PFDN5	12	53689700	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	4267895	53689700	80162195	83	113749											
OS9	10956	broad.mit.edu	37	chr12	58090082	58090082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcagcatcgtcttaaaCgctaccacagccagacctat	6	15	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:58090082C>T	uc001spj.2	+	5	564	c.505C>T	c.(505-507)CGC>TGC	p.R169C	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.R169C|OS9_uc001spl.2_Missense_Mutation_p.R169C|OS9_uc001spm.2_Missense_Mutation_p.R169C|OS9_uc001spn.2_Missense_Mutation_p.R169C|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Missense_Mutation_p.R110C	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	169	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCGTCTTAAACGCTACCACAG	0.562													T	58090082	C	T	58090082	3	4	218	1	0	0	0	0	1	0	0	0	11272	536	19	1	523	1	OS9	12	58090082	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	4400382	58090082	75761813	84	113750											
TSFM	10102	broad.mit.edu	37	chr12	58176625	58176625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtgtttctggtcgcgcGgaccgggagctacccggtga	17	12	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:58176625G>A	uc001sqi.2	+	1	90	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	TSFM_uc010sse.1_5'UTR|TSFM_uc001sqh.2_Missense_Mutation_p.R14Q|TSFM_uc010ssf.1_Missense_Mutation_p.R14Q	NM_005726	NP_005717	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	14					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity				0	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTGGTCGCGCGGACCGGGAGC	0.642											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58176625	G	A	58176625	3	1	218	1	0	0	0	0	1	0	0	0	16612	1116	39	1	43	1	TSFM	12	58176625	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	86543	58176625	75675270	85	113751											
IRAK3	11213	broad.mit.edu	37	chr12	66638317	66638317	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccaaactaactgattttgcCatggcacacttccggtccca	6	15	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:66638317C>G	uc001sth.2	+	9	1041	c.939C>G	c.(937-939)GCC>GCG	p.A313A	IRAK3_uc010ssy.1_Silent_p.A252A	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	313	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			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		CTGATTTTGCCATGGCACACT	0.408													G	66638317	C	G	66638317	2	3	218	1	0	0	0	0	0	0	0	1	7824	581	21	5		5	IRAK3	12	66638317	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	8461692	66638317	67213578	86	113752											
NCOR2	9612	broad.mit.edu	37	chr12	124827739	124827739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcgtcgacgtcagctttCggtcctgggatgccttgctg	15	11	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:124827739C>T	uc010tba.1	-	33	4889	c.4772G>A	c.(4771-4773)CGA>CAA	p.R1591Q	NCOR2_uc010tay.1_Missense_Mutation_p.R1590Q|NCOR2_uc010taz.1_Missense_Mutation_p.R1574Q|NCOR2_uc010tbb.1_Missense_Mutation_p.R1583Q|NCOR2_uc010tbc.1_Missense_Mutation_p.R1573Q	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1591					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			skin(3)|ovary(1)	4	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)		CGTCAGCTTTCGGTCCTGGGA	0.632													T	124827739	C	T	124827739	3	4	218	1	0	0	0	0	1	0	0	0	10236	884	31	1	2856	1	NCOR2	12	124827739	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	58189422	124827739	9024156	87	113753											
POLE	5426	broad.mit.edu	37	chr12	133209266	133209266	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgggaagggctccgacCgccccctcggcctcctggga	13	18	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr12:133209266C>G	uc001uks.1	-	44	6164	c.6120G>C	c.(6118-6120)GCG>GCC	p.A2040A	POLE_uc001ukq.1_Silent_p.A250A|POLE_uc001ukr.1_Silent_p.A844A|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	2040					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		GGGCTCCGACCGCCCCCTCGG	0.657								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	133209266	C	G	133209266	2	3	218	1	0	0	0	0	0	0	0	1	12196	639	23	5		5	POLE	12	133209266	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	8381527	133209266	642629	88	113754											
SGCG	6445	broad.mit.edu	37	chr13	23824841	23824841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagaaggggaggtcacaGgcaggttaaaagtcggtgag	16	6	2	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr13:23824841G>A	uc001uom.2	+	4	525	c.370G>A	c.(370-372)GGC>AGC	p.G124S	SGCG_uc009zzv.2_Missense_Mutation_p.G124S|SGCG_uc009zzw.2_Missense_Mutation_p.G124S	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	124	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		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)		GGAGGTCACAGGCAGGTTAAA	0.403													A	23824841	G	A	23824841	3	1	218	1	0	0	0	0	1	0	0	0	14203	1000	35	4	380	4	SGCG	13	23824841	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08		23824841	91345037	89	113755											
B3GALTL	145173	broad.mit.edu	37	chr13	31891748	31891748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttatgactccggcgaGcctgtgtttctgggagagcg	15	9	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr13:31891748G>A	uc010aaz.2	+	13	1220	c.1110G>A	c.(1108-1110)GAG>GAA	p.E370E	B3GALTL_uc001utn.3_RNA	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	370	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		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)		ACTCCGGCGAGCCTGTGTTTC	0.507													A	31891748	G	A	31891748	2	1	218	1	0	0	0	0	0	0	0	1	1252	962	34	2		2	B3GALTL	13	31891748	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	8066907	31891748	83278130	90	113756											
NBEA	26960	broad.mit.edu	37	chr13	35731227	35731230	+	Frame_Shift_Del	DEL	GTGT	GTGT	-													ctccctagatgcttattgcaGtgttcagtgtggcaggattg							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr13:35731226_35731229AGTGT>A	uc021rid.1	+	20	3197_3200	c.2663_2666AGTGT>A	c.(2662-2667)cagtgtfs	p.Q888fs	NBEA_uc021ric.1_Frame_Shift_Del_p.Q888fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	888						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)		TGCTTATTGCAGTGTTCAGTGTGG	0.304													-	35731230	GTGT	-	35731227	7	5	218	1	0	1	0	1	0	0	0	0	10187	1020	36	0	2746	0	NBEA	13	35731227	Frame_Shift_Del	DEL	GTGT	TCGA-D7-8570-01A-11D-2340-08	3839479	35731227	79438651	91	113757											
COG6	57511	broad.mit.edu	37	chr13	40251606	40251606	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttttgaaaattacagcCaaaaattagagataagagct	7	5	0	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr13:40251606C>T	uc001uxh.2	+	5	530	c.430C>T	c.(430-432)CAA>TAA	p.Q144*	COG6_uc001uxi.2_Nonsense_Mutation_p.Q92*|COG6_uc010acb.2_Nonsense_Mutation_p.Q144*	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	144					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		AAATTACAGCCAAAAATTAGA	0.333													T	40251606	C	T	40251606	4	4	218	1	0	0	0	0	0	1	0	0	3662	608	21	4	448	4	COG6	13	40251606	Nonsense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	4520379	40251606	74918272	92	113758											
PCDH20	64881	broad.mit.edu	37	chr13	61987362	61987362	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gacccaccatcctcagctatGatgatgctcacatactggtc	7	14	2	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr13:61987362G>C	uc001vid.3	-	2	1234	c.870C>G	c.(868-870)ATC>ATG	p.I290M	PCDH20_uc010thj.1_Missense_Mutation_p.I290M	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	263	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCTCAGCTATGATGATGCTCA	0.527													C	61987362	G	C	61987362	3	2	218	1	0	0	0	0	1	0	0	0	11515	1280	45	5	1989	5	PCDH20	13	61987362	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	21735756	61987362	53182516	93	113759											
SLC7A8	23428	broad.mit.edu	37	chr14	23652065	23652065	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcggggctggcgtccgacTcgcccccacctgggtgtttc	13	17	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr14:23652065T>A	uc001wiz.2	-	1	785	c.59A>T	c.(58-60)GAG>GTG	p.E20V	SLC7A8_uc010akj.2_Missense_Mutation_p.E20V	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	20					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			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGCGTCCGACTCGCCCCCACC	0.572													A	23652065	T	A	23652065	3	1	218	1	0	0	0	0	1	0	0	0	14704	1551	54	5	1592	5	SLC7A8	14	23652065	Missense_Mutation	SNP	T	TCGA-D7-8570-01A-11D-2340-08		23652065	83697475	94	113760											
CMTM5	116173	broad.mit.edu	37	chr14	23848585	23848585	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgagatggcacccggggcCagccagggtgagtgcctgtg	17	11	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr14:23848585C>G	uc010akm.2	+	5	1095	c.651C>G	c.(649-651)GCC>GCG	p.A217A	CMTM5_uc001wjs.2_Silent_p.A150A|CMTM5_uc001wjt.2_Silent_p.A119A|CMTM5_uc010akn.2_Silent_p.A112A|CMTM5_uc001wju.2_Silent_p.A99A|CMTM5_uc010ako.2_RNA	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	217					chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CACCCGGGGCCAGCCAGGGTG	0.587													G	23848585	C	G	23848585	2	3	218	1	0	0	0	0	0	0	0	1	3586	581	21	5		5	CMTM5	14	23848585	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	196520	23848585	83500955	95	113761											
G2E3	55632	broad.mit.edu	37	chr14	31071327	31071327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacctggatcccagagtaaaGatctactgaggtatgtattt	9	8	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr14:31071327G>C	uc001wqk.2	+	10	1154	c.1000G>C	c.(1000-1002)GAT>CAT	p.D334H	G2E3_uc010tpe.1_Missense_Mutation_p.D249H|G2E3_uc010tpf.1_Missense_Mutation_p.D288H	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	334					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CCAGAGTAAAGATCTACTGAG	0.328													C	31071327	G	C	31071327	3	2	218	1	0	0	0	0	1	0	0	0	6140	942	33	5	1034	5	G2E3	14	31071327	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	7222742	31071327	76278213	96	113762											
PSMC1	5700	broad.mit.edu	37	chr14	90735757	90735757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagatatgactccaattctGgtggtgagagagaaattcag	11	5	2	4			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr14:90735757G>A	uc001xyf.2	+	9	946	c.898G>A	c.(898-900)GGT>AGT	p.G300S	PSMC1_uc001xyg.2_Missense_Mutation_p.G227S|PSMC1_uc001xyh.2_Missense_Mutation_p.G227S	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	300					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				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTCCAATTCTGGTGGTGAGAG	0.428													A	90735757	G	A	90735757	3	1	218	1	0	0	0	0	1	0	0	0	12685	1348	47	4	932	4	PSMC1	14	90735757	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	59664430	90735757	16613783	97	113763											
UBE3A	7337	broad.mit.edu	37	chr15	25616254	25616254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcatcattcactagatttCgactgttaaattcattgctt	4	9	4	1	rs140204238		TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr15:25616254C>T	uc001zaq.2	-	4	1076	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.R336Q|UBE3A_uc001zas.2_Missense_Mutation_p.R356Q|UBE3A_uc001zat.2_Missense_Mutation_p.R336Q	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	359				R -> RNLVNEFNSR (in Ref. 7; AA sequence).	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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		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)		CACTAGATTTCGACTGTTAAA	0.383													T	25616254	C	T	25616254	3	4	218	1	0	0	0	0	1	0	0	0	16876	884	31	1	1583	1	UBE3A	15	25616254	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08		25616254	76915138	98	113764											
IVD	3712	broad.mit.edu	37	chr15	40703835	40703835	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgattgtctatgccaagaCagatctggctgctgtgccag	11	11	2	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr15:40703835C>G	uc001zls.3	+	6	975	c.641C>G	c.(640-642)ACA>AGA	p.T214R	IVD_uc001zlq.2_Missense_Mutation_p.T184R	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	211					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		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)		TATGCCAAGACAGATCTGGCT	0.537													G	40703835	C	G	40703835	3	3	218	1	0	0	0	0	1	0	0	0	7928	478	17	5	663	5	IVD	15	40703835	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	15087581	40703835	61827557	99	113765											
BAHD1	22893	broad.mit.edu	37	chr15	40751171	40751171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcctcctccaagaagCggccccggctgggggacctt	14	15	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr15:40751171C>T	uc001zlu.2	+	2	579	c.508C>T	c.(508-510)CGG>TGG	p.R170W	BAHD1_uc001zlt.2_Missense_Mutation_p.R170W|BAHD1_uc010bbp.1_Missense_Mutation_p.R170W|BAHD1_uc001zlv.2_Missense_Mutation_p.R170W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	170					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTCCAAGAAGCGGCCCCGGCT	0.687													T	40751171	C	T	40751171	3	4	218	1	0	0	0	0	1	0	0	0	1297	759	27	1	510	1	BAHD1	15	40751171	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	47336	40751171	61780221	100	113766											
SPG11	80208	broad.mit.edu	37	chr15	44888535	44888535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgactgggctgaagtActggataagggatttcacct	12	6	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr15:44888535A>C	uc001ztx.2	-	25	4211	c.4180T>G	c.(4180-4182)TAC>GAC	p.Y1394D	SPG11_uc010ueh.1_Missense_Mutation_p.Y1394D|SPG11_uc010uei.1_Missense_Mutation_p.Y1394D|SPG11_uc001zty.1_Missense_Mutation_p.Y123D	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1394	Cytoplasmic (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		GGGCTGAAGTACTGGATAAGG	0.438													C	44888535	A	C	44888535	3	2	218	1	0	0	0	0	1	0	0	0	15040	391	14	5	3215	5	SPG11	15	44888535	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	4137364	44888535	57642857	101	113767											
B2M	567	broad.mit.edu	37	chr15	45007747	45007751	+	Frame_Shift_Del	DEL	GAATT	GAATT	-													cttactgaagaatggagagaGaattgaaaaagtggagcatt							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr15:45007746_45007750AGAATT>A	uc001zuc.3	+	1	253_257	c.193_197AGAATT>A	c.(193-198)agaattfs	p.R65fs	B2M_uc010uek.1_Frame_Shift_Del_p.R65fs|B2M_uc010bdx.1_Frame_Shift_Del_p.R65fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	65	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	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.K61_L74del(2)		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)		GAATGGAGAGAGAATTGAAAAAGTG	0.415													-	45007751	GAATT	-	45007747	7	5	218	1	0	1	0	1	0	0	0	0	1244	942	33	0	200	0	B2M	15	45007747	Frame_Shift_Del	DEL	GAATT	TCGA-D7-8570-01A-11D-2340-08	119212	45007747	57523645	102	113768											
CACNA1H	8912	broad.mit.edu	37	chr16	1245993	1245993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaccgtgcgggtgctgCggcccctccgcgccatcaac	13	17	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr16:1245993C>T	uc002cks.2	+	5	861	c.613C>T	c.(613-615)CGG>TGG	p.R205W	CACNA1H_uc002ckt.2_Missense_Mutation_p.R205W	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	205	Helical; Name=S4 of repeat I; (Potential).|I.				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGGTGCTGCGGCCCCTCCG	0.657													T	1245993	C	T	1245993	3	4	218	1	0	0	0	0	1	0	0	0	2545	759	27	1	627	1	CACNA1H	16	1245993	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08		1245993	89108760	103	113769											
A2BP1	54715	broad.mit.edu	37	chr16	7568355	7568355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccgagcagagcccggcGgacacgagcgctcagaccgt	13	16	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr16:7568355G>A	uc002cys.2	+	5	1222	c.234G>A	c.(232-234)GCG>GCA	p.A78A	A2BP1_uc010buf.1_Silent_p.A78A|A2BP1_uc002cyr.1_Silent_p.A78A|A2BP1_uc002cyt.2_Silent_p.A78A|A2BP1_uc010uxz.1_Silent_p.A121A|A2BP1_uc010uya.1_Silent_p.A114A|A2BP1_uc002cyv.1_Silent_p.A78A|A2BP1_uc010uyb.1_Silent_p.A78A|A2BP1_uc002cyw.2_Silent_p.A98A|A2BP1_uc002cyy.2_Silent_p.A98A|A2BP1_uc002cyx.2_Silent_p.A98A|A2BP1_uc010uyc.1_Silent_p.A98A	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	78					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		AGAGCCCGGCGGACACGAGCG	0.652													A	7568355	G	A	7568355	2	1	218	1	0	0	0	0	0	0	0	1	3	1103	39	1		1	A2BP1	16	7568355	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	6322362	7568355	82786398	104	113770											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942523	24942523	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaagctgctggagtacctCcggggtgctgagagctggga	17	9	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr16:24942523C>A	uc002dnb.2	-	19	2190	c.2097G>T	c.(2095-2097)CGG>CGT	p.R699R	ARHGAP17_uc002dmx.2_5'UTR|ARHGAP17_uc002dmw.2_5'UTR|ARHGAP17_uc002dmy.2_Silent_p.R144R|ARHGAP17_uc002dmz.2_Silent_p.R223R|ARHGAP17_uc002dna.2_Silent_p.R426R|ARHGAP17_uc002dnc.2_Silent_p.R621R|ARHGAP17_uc010vcf.1_Silent_p.R442R|ARHGAP17_uc002dne.1_5'UTR	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	699	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		TGGAGTACCTCCGGGGTGCTG	0.667													A	24942523	C	A	24942523	2	1	218	1	0	0	0	0	0	0	0	1	867	842	30	5		5	ARHGAP17	16	24942523	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	17374168	24942523	65412230	105	113771											
MT1M	4499	broad.mit.edu	37	chr16	56667294	56667294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcacgtgcaaagagtGcaaatgcacctcctgcaaga	9	13	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr16:56667294G>A	uc002ejn.2	+	2	181	c.71G>A	c.(70-72)TGC>TAC	p.C24Y	MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_RNA|uc002ejo.1_5'Flank|uc002ejp.1_5'Flank	NM_176870	NP_789846	Q8N339	MT1M_HUMAN	metallothionein 1M	24	Beta.	Divalent metal cation; cluster B.					metal ion binding			ovary(1)	1						TGCAAAGAGTGCAAATGCACC	0.577													A	56667294	G	A	56667294	3	1	218	1	0	0	0	0	1	0	0	0	9903	1319	46	2	77	2	MT1M	16	56667294	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	31724771	56667294	33687459	106	113772											
CDH8	1006	broad.mit.edu	37	chr16	61687567	61687567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcccagtctcttaaagCggggaccccagtcactgagg	12	13	2	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr16:61687567C>T	uc002eog.1	-	12	2597	c.2345G>A	c.(2344-2346)CGC>CAC	p.R782H		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	782	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		TCTCTTAAAGCGGGGACCCCA	0.473													T	61687567	C	T	61687567	3	4	218	1	0	0	0	0	1	0	0	0	3116	768	27	1	58	1	CDH8	16	61687567	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	5020273	61687567	28667186	107	113773											
PDPR	55066	broad.mit.edu	37	chr16	70190507	70190507	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggtggggagagcccAtttaccggaatgggcagtat	16	8	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr16:70190507A>T	uc002eyf.1	+	19	3322	c.2365A>T	c.(2365-2367)ATT>TTT	p.I789F	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.I689F|PDPR_uc002eyg.1_Missense_Mutation_p.I456F|PDPR_uc002eyh.2_Missense_Mutation_p.I134F|PDPR_uc010vls.1_Missense_Mutation_p.I134F	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	789					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGGAGAGCCCATTTACCGGAA	0.532													T	70190507	A	T	70190507	3	4	218	1	0	0	0	0	1	0	0	0	11689	217	8	5	2431	5	PDPR	16	70190507	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	8502940	70190507	20164246	108	113774											
CENPN	55839	broad.mit.edu	37	chr16	81061838	81061838	+	Frame_Shift_Del	DEL	C	C	-													gctgagagggaagaacccctCcgatgcctaataaagttctc							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr16:81061837_81061837TC>T	uc002ffy.4	+	9	1662	c.872_872TC>T	c.(871-873)ctcfs	p.L291fs	CENPN_uc002ffx.2_Frame_Shift_Del_p.L291fs|CENPN_uc010vnl.1_Frame_Shift_Del_p.L257fs|CENPN_uc010vnm.1_Frame_Shift_Del_p.L271fs	NM_001100625	NP_001094095	Q96H22	CENPN_HUMAN	Homo sapiens centromere protein N (CENPN), transcript variant 1, mRNA.	291					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						GAAGAACCCCTCCGATGCCTA	0.398													-	81061838	C	-	81061838	7	5	218	1	0	1	0	1	0	0	0	0	3238	842	30	0	995	0	CENPN	16	81061838	Frame_Shift_Del	DEL	C	TCGA-D7-8570-01A-11D-2340-08	10871331	81061838	9292915	109	113775											
CAMTA2	23125	broad.mit.edu	37	chr17	4873788	4873788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcgtttaatccgctccGgtgtggcttcgatgatctgc	10	13	2	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:4873788G>A	uc002gah.1	-	17	2960	c.2852C>T	c.(2851-2853)CCG>CTG	p.P951L	SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.P974L|CAMTA2_uc002gag.1_Missense_Mutation_p.P950L|CAMTA2_uc002gai.1_Missense_Mutation_p.P953L|CAMTA2_uc010ckv.1_Missense_Mutation_p.P598L	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	951					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						AATCCGCTCCGGTGTGGCTTC	0.607													A	4873788	G	A	4873788	3	1	218	1	0	0	0	0	1	0	0	0	2614	1116	39	1	834	1	CAMTA2	17	4873788	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08		4873788	76321422	110	113776											
DNAH2	146754	broad.mit.edu	37	chr17	7662770	7662770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggatgctgtacatgattCggctggaccgcatgatggag	15	7	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:7662770C>T	uc002giu.1	+	15	2493	c.2479C>T	c.(2479-2481)CGG>TGG	p.R827W		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	827	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTACATGATTCGGCTGGACCG	0.522													T	7662770	C	T	7662770	3	4	218	1	0	0	0	0	1	0	0	0	4602	875	31	1	2537	1	DNAH2	17	7662770	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	2788982	7662770	73532440	111	113777											
DNAH9	1770	broad.mit.edu	37	chr17	11774939	11774939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggactcgcttctgaaaacGtgaggtgggcagatgccgtg	16	8	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:11774939G>A	uc002gne.2	+	52	10146	c.10078G>A	c.(10078-10080)GTG>ATG	p.V3360M	DNAH9_uc010coo.2_Missense_Mutation_p.V2654M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3360					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TTCTGAAAACGTGAGGTGGGC	0.473													A	11774939	G	A	11774939	3	1	218	1	0	0	0	0	1	0	0	0	4608	1145	40	1	10284	1	DNAH9	17	11774939	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	4112169	11774939	69420271	112	113778											
NUFIP2	57532	broad.mit.edu	37	chr17	27614063	27614063	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgctttcctttgggccgatCatcaaactttttgctgctca	7	11	3	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:27614063C>T	uc002hdy.3	-	2	1038	c.949G>A	c.(949-951)GAT>AAT	p.D317N	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	317						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTGGGCCGATCATCAAACTTT	0.493													T	27614063	C	T	27614063	3	4	218	1	0	0	0	0	1	0	0	0	10749	826	29	4	1150	4	NUFIP2	17	27614063	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	15839124	27614063	53581147	113	113779											
SPACA3	124912	broad.mit.edu	37	chr17	31323877	31323888	+	In_Frame_Del	DEL	TTTCACAAGCGG	TTTCACAAGCGG	-													gcaggggtctgccttgcttaTttcacaagcggtttcaacgc							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:31323876_31323887ATTTCACAAGCGG>A	uc002hhs.1	+	2	434_445	c.359_370ATTTCACAAGCGG>A	c.(358-372)tatttcacaagcggt>tAgt	p.120_124YFTSG>*	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	120					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TGCCTTGCTTATTTCACAAGCGGTTTCAACGC	0.59													-	31323888	TTTCACAAGCGG	-	31323877	7	5	218	1	0	1	0	1	0	0	0	0	14973	1500	52	0	370	0	SPACA3	17	31323877	In_Frame_Del	DEL	TTTCACAAGCGG	TCGA-D7-8570-01A-11D-2340-08	3709814	31323877	49871333	114	113780											
KRT12	3859	broad.mit.edu	37	chr17	39023097	39023097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggcctccatcattgccCgagagaatacctagagagcc	10	12	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:39023097C>T	uc002hvk.2	-	1	366	c.342G>A	c.(340-342)TCG>TCA	p.S114S		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	114	Head.|Gly-rich.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CATCATTGCCCGAGAGAATAC	0.512													T	39023097	C	T	39023097	2	4	218	1	0	0	0	0	0	0	0	1	8449	639	23	1		1	KRT12	17	39023097	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	7699220	39023097	42172113	115	113781											
WNK4	65266	broad.mit.edu	37	chr17	40935985	40935985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttccgggagatgaagccGcgggtccttcagcgctggag	17	11	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:40935985G>A	uc002ibj.2	+	3	843	c.822G>A	c.(820-822)CCG>CCA	p.P274P	WNK4_uc010wgx.1_5'UTR|WNK4_uc002ibk.1_Silent_p.P46P|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	274	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGATGAAGCCGCGGGTCCTTC	0.652													A	40935985	G	A	40935985	2	1	218	1	0	0	0	0	0	0	0	1	17377	1074	38	1		1	WNK4	17	40935985	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	1912888	40935985	40259225	116	113782											
GFAP	2670	broad.mit.edu	37	chr17	42989090	42989090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggactgcaactggcgccGgtagtcgttggcttcgtgct	14	11	0	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:42989090G>A	uc002ihq.2	-	5	916	c.856C>T	c.(856-858)CGG>TGG	p.R286W	GFAP_uc002ihr.2_Missense_Mutation_p.R286W|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	286	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				AACTGGCGCCGGTAGTCGTTG	0.692													A	42989090	G	A	42989090	3	1	218	1	0	0	0	0	1	0	0	0	6337	1115	39	1	591	1	GFAP	17	42989090	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	2053105	42989090	38206120	117	113783											
FMNL1	752	broad.mit.edu	37	chr17	43320665	43320665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcaacctgggggccgagCgcatctgccaagccattgag	15	12	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:43320665C>T	uc002iin.2	+	17	2391	c.2191C>T	c.(2191-2193)CGC>TGC	p.R731C	FMNL1_uc002iiq.2_Missense_Mutation_p.R309C|FMNL1_uc010dag.2_RNA	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	731	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GGGGGCCGAGCGCATCTGCCA	0.617													T	43320665	C	T	43320665	3	4	218	1	0	0	0	0	1	0	0	0	5951	768	27	1	2257	1	FMNL1	17	43320665	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	331575	43320665	37874545	118	113784											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	218	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-D7-8570-01A-11D-2340-08	13065719	56386384	24808826	119	113785											
BCAS3	54828	broad.mit.edu	37	chr17	59112070	59112086	+	Frame_Shift_Del	DEL	GGCGGAGAATTTTGTGT	GGCGGAGAATTTTGTGT	-													tttcacccagcaaatcgatgGgcggagaattttgtgtggct							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:59112069_59112085GGGCGGAGAATTTTGTGT>G	uc002iyv.4	+	17	1834_1850	c.1725_1741GGGCGGAGAATTTTGTGT>G	c.(1723-1743)atgggcggagaattttgtgtgfs	p.M575fs	BCAS3_uc010wow.1_Frame_Shift_Del_p.M347fs|BCAS3_uc002iyu.4_Frame_Shift_Del_p.M560fs|BCAS3_uc002iyw.4_Frame_Shift_Del_p.M556fs|BCAS3_uc002iyy.4_Frame_Shift_Del_p.M331fs|BCAS3_uc002iyz.4_Frame_Shift_Del_p.M129fs|BCAS3_uc002iza.4_Frame_Shift_Del_p.M114fs	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	575						nucleus		p.E578*(2)		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)			GCAAATCGATGGGCGGAGAATTTTGTGTGGCTGCTAT	0.341													-	59112086	GGCGGAGAATTTTGTGT	-	59112070	7	5	218	1	0	1	0	1	0	0	0	0	1352	1232	43	0	1792	0	BCAS3	17	59112070	Frame_Shift_Del	DEL	GGCGGAGAATTTTGTGT	TCGA-D7-8570-01A-11D-2340-08	2725686	59112070	22083140	120	113786											
ABCA10	10349	broad.mit.edu	37	chr17	67212089	67212089	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagagaaatccagccaaaCcagcgagcataggtttcctt	9	10	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:67212089C>G	uc010dfa.1	-	9	1604	c.725G>C	c.(724-726)GGT>GCT	p.G242A	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Missense_Mutation_p.G134A	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	242	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TCCAGCCAAACCAGCGAGCAT	0.383													G	67212089	C	G	67212089	3	3	218	1	0	0	0	0	1	0	0	0	29	507	18	5	4034	5	ABCA10	17	67212089	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	8100019	67212089	13983121	121	113787											
TMC8	147138	broad.mit.edu	37	chr17	76129507	76129507	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccttcaccaacacctatctCttctacggtgcgtaccgagt	7	15	3	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:76129507C>G	uc002jup.2	+	6	934	c.552C>G	c.(550-552)CTC>CTG	p.L184L	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	184	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACACCTATCTCTTCTACGGTG	0.498									Epidermodysplasia_Verruciformis_Familial_Clustering_of				G	76129507	C	G	76129507	2	3	218	1	0	0	0	0	0	0	0	1	15988	900	32	5		5	TMC8	17	76129507	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	8917418	76129507	5065703	122	113788											
SOCS3	9021	broad.mit.edu	37	chr17	76354545	76354545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaactcccgaatgggccccGgcagctgggtgactttctca	13	13	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr17:76354545G>A	uc002jvl.2	-	2	1048	c.632C>T	c.(631-633)CCG>CTG	p.P211L		NM_003955	NP_003946	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	211	SOCS box.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|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	protein kinase inhibitor activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AATGGGCCCCGGCAGCTGGGT	0.632													A	76354545	G	A	76354545	3	1	218	1	0	0	0	0	1	0	0	0	14915	1116	39	1	49	1	SOCS3	17	76354545	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	225038	76354545	4840665	123	113789											
MUC16	94025	broad.mit.edu	37	chr19	9087354	9087354	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggacataggtggaaaaatAgcaaatgtactcatgggtga	13	4	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:9087354A>G	uc002mkp.2	-	1	4665	c.4461T>C	c.(4459-4461)GCT>GCC	p.A1487A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1487	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGGAAAAATAGCAAATGTAC	0.438													G	9087354	A	G	9087354	2	3	218	1	0	0	0	0	0	0	0	1	9973	407	15	3		3	MUC16	19	9087354	Silent	SNP	A	TCGA-D7-8570-01A-11D-2340-08		9087354	50041629	124	113790											
FAM129C	199786	broad.mit.edu	37	chr19	17644500	17644500	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttggatgctctctgcccTgaatccttgggtaagggtcc	11	11	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:17644500T>A	uc010xpr.1	+	5	648	c.510T>A	c.(508-510)CCT>CCA	p.P170P	FAM129C_uc010xpq.1_Silent_p.P170P|FAM129C_uc010xps.1_Silent_p.P139P|FAM129C_uc010xpt.1_RNA	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	170											0						CTCTCTGCCCTGAATCCTTGG	0.393													A	17644500	T	A	17644500	2	1	218	1	0	0	0	0	0	0	0	1	5438	1567	55	5		5	FAM129C	19	17644500	Silent	SNP	T	TCGA-D7-8570-01A-11D-2340-08	8557146	17644500	41484483	125	113791											
TMEM149	79713	broad.mit.edu	37	chr19	36231285	36231285	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagtcccatctgcacctctCtgcagcgccacggggttctg	12	15	3	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:36231285C>T	uc002obc.2	-	3	439	c.338G>A	c.(337-339)AGA>AAA	p.R113K	TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.R113K|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.R193K	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	113	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCACCTCTCTGCAGCGCCA	0.731													T	36231285	C	T	36231285	3	4	218	1	0	0	0	0	1	0	0	0	16059	913	32	4	741	4	TMEM149	19	36231285	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	18586785	36231285	22897698	126	113792											
PRX	57716	broad.mit.edu	37	chr19	40901644	40901645	+	Frame_Shift_Ins	INS	-	-	G													cttgcccattttagcggctgINSggacctgcccctgcaggcca							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:40901643_40901644T>TG	uc002onr.3	-	6	2884_2885	c.2615_2616A>CA	c.(2614-2616)ccafs	p.P872fs	PRX_uc002onq.3_Frame_Shift_Ins_p.P733fs|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	872					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)			TTTTAGCGGCTGGGACCTGCCC	0.629													G	40901645	-	G	40901644	7	5	218	1	0	1	1	0	0	0	0	0	12642	1348	47	0	1774	0	PRX	19	40901644	Frame_Shift_Ins	INS	-	TCGA-D7-8570-01A-11D-2340-08	4670359	40901644	18227339	127	113793											
CYP2S1	29785	broad.mit.edu	37	chr19	41704707	41704707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggctgccttcacagtcCggcaggtgcagcagcaccag	12	15	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:41704707C>T	uc002opw.2	+	5	803	c.748C>T	c.(748-750)CGG>TGG	p.R250W	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	250					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						CTTCACAGTCCGGCAGGTGCA	0.642													T	41704707	C	T	41704707	3	4	218	1	0	0	0	0	1	0	0	0	4174	643	23	1	766	1	CYP2S1	19	41704707	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	803063	41704707	17424276	128	113794											
SPHK2	56848	broad.mit.edu	37	chr19	49132886	49132886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacgccgcggcccgtgcCttccgcctagagccgctcac	12	19	1	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:49132886C>T	uc002pjr.2	+	7	2187	c.1821C>T	c.(1819-1821)GCC>GCT	p.A607A	SPHK2_uc010xzt.1_Silent_p.A548A|SPHK2_uc002pjs.2_Silent_p.A607A|SPHK2_uc002pjt.2_Silent_p.A401A|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.A571A|SPHK2_uc002pjw.2_Silent_p.A669A	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	607					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			lung(1)	1		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)		CGGCCCGTGCCTTCCGCCTAG	0.677													T	49132886	C	T	49132886	2	4	218	1	0	0	0	0	0	0	0	1	15046	668	24	4		4	SPHK2	19	49132886	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	7428179	49132886	9996097	129	113795											
ZNF677	342926	broad.mit.edu	37	chr19	53741803	53741803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttgcttgtaaatccaacAgaaatatctgaaagatatta	5	8	1	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:53741803A>G	uc002qbf.1	-	5	362	c.177T>C	c.(175-177)TCT>TCC	p.S59S	ZNF677_uc002qbg.1_Silent_p.S59S	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		TAAATCCAACAGAAATATCTG	0.299													G	53741803	A	G	53741803	2	3	218	1	0	0	0	0	0	0	0	1	18081	175	7	3		3	ZNF677	19	53741803	Silent	SNP	A	TCGA-D7-8570-01A-11D-2340-08	4608917	53741803	5387180	130	113796											
PRKCG	5582	broad.mit.edu	37	chr19	54401213	54401213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttctcctttccacagCgggtgcggatgggcccctct	10	14	3	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:54401213C>T	uc002qcq.1	+	10	1222	c.940C>T	c.(940-942)CGG>TGG	p.R314W	PRKCG_uc010yef.1_Silent_p.S284S|PRKCG_uc010yeg.1_Missense_Mutation_p.R314W|PRKCG_uc010yeh.1_Missense_Mutation_p.R201W	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	314				RVRM -> VSRT (in Ref. 3; AAA60102).	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			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	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)		CTTTCCACAGCGGGTGCGGAT	0.473													T	54401213	C	T	54401213	3	4	218	1	0	0	0	0	1	0	0	0	12512	782	27	1	978	1	PRKCG	19	54401213	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	659410	54401213	4727770	131	113797											
PRPF31	26121	broad.mit.edu	37	chr19	54621676	54621676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgtctctggcagatgaGctcttagctgatctcgaaga	13	8	3	4			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:54621676G>A	uc002qdh.2	+	2	414	c.18G>A	c.(16-18)GAG>GAA	p.E6E	TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Silent_p.E6E	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	6					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGCAGATGAGCTCTTAGCTG	0.323													A	54621676	G	A	54621676	2	1	218	1	0	0	0	0	0	0	0	1	12566	962	34	2		2	PRPF31	19	54621676	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	220463	54621676	4507307	132	113798											
CNOT3	4849	broad.mit.edu	37	chr19	54657452	54657452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccactgttcctcccccagGgcactaaggcacagtatctg	8	16	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:54657452G>T	uc002qdj.1	+	17	2349	c.2038G>T	c.(2038-2040)GGC>TGC	p.G680C	CNOT3_uc010yel.1_Missense_Mutation_p.R707S|CNOT3_uc002qdi.2_Missense_Mutation_p.R591S|CNOT3_uc002qdk.1_Missense_Mutation_p.G680C|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.G135C	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	680					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTCCCCCAGGGCACTAAGGC	0.627													T	54657452	G	T	54657452	3	4	218	1	0	0	0	0	1	0	0	0	3620	1246	43	5	2100	5	CNOT3	19	54657452	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	35776	54657452	4471531	133	113799											
LILRB2	10288	broad.mit.edu	37	chr19	54778550	54778550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggctagtggatggccAgggtggcgtagatgctgggc	19	9	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:54778550A>G	uc002qfb.2	-	14	2050	c.1784T>C	c.(1783-1785)CTG>CCG	p.L595P	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L594P|LILRB2_uc010yet.1_Missense_Mutation_p.L479P	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	595	ITIM motif 3.|Cytoplasmic (Potential).				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			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGATGGCCAGGGTGGCGTA	0.612													G	54778550	A	G	54778550	3	3	218	1	0	0	0	0	1	0	0	0	8791	188	7	3	16	3	LILRB2	19	54778550	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	121098	54778550	4350433	134	113800											
KIR3DL1	3811	broad.mit.edu	37	chr19	55329954	55329954	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcttcaacatgagccctgtGaccacagcacatgcagggaa	10	12	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:55329954G>A	uc002qhk.3	+	3	318	c.255G>A	c.(253-255)GTG>GTA	p.V85V	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.V27V|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Silent_p.V27V|KIR3DL1_uc002qhl.3_Silent_p.V85V	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	85	Extracellular (Potential).|Ig-like C2-type 1.				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		TGAGCCCTGTGACCACAGCAC	0.512													A	55329954	G	A	55329954	2	1	218	1	0	0	0	0	0	0	0	1	8320	1277	45	4		4	KIR3DL1	19	55329954	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	551404	55329954	3799029	135	113801											
AURKC	6795	broad.mit.edu	37	chr19	57746683	57746683	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttccaggcttctcagataCcagcccttggagagactgcc	9	13	1	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:57746683C>A	uc002qoe.2	+	7	1017	c.828C>A	c.(826-828)TAC>TAA	p.Y276*	AURKC_uc002qoc.2_Nonsense_Mutation_p.Y257*|AURKC_uc002qod.2_Nonsense_Mutation_p.Y242*|AURKC_uc010etv.2_Nonsense_Mutation_p.Y273*	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	276	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		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)		TTCTCAGATACCAGCCCTTGG	0.577													A	57746683	C	A	57746683	4	1	218	1	0	0	0	0	0	1	0	0	1224	518	18	5	859	5	AURKC	19	57746683	Nonsense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	2416729	57746683	1382300	136	113802											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601477	58601477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggtagacaaattccCggaaacgcaggcgggagaac	12	12	0	2			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr19:58601477C>T	uc002qri.2	-	2	467	c.158G>A	c.(157-159)CGG>CAG	p.R53Q	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R53Q|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R53Q|ZSCAN18_uc010yht.1_Missense_Mutation_p.R109Q|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R53Q|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R53Q	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GACAAATTCCCGGAAACGCAG	0.677													T	58601477	C	T	58601477	3	4	218	1	0	0	0	0	1	0	0	0	18227	652	23	1	1398	1	ZSCAN18	19	58601477	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	854794	58601477	527506	137	113803											
INSM1	3642	broad.mit.edu	37	chr20	20350144	20350144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacctactggccttgtaCcccgggcccgacgagaaggc	14	14	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr20:20350144C>T	uc002wrx.2	+	1	1380	c.1233C>T	c.(1231-1233)TAC>TAT	p.Y411Y		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	411					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		TGGCCTTGTACCCCGGGCCCG	0.761													T	20350144	C	T	20350144	2	4	218	1	0	0	0	0	0	0	0	1	7771	518	18	4		4	INSM1	20	20350144	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08		20350144	42675376	138	113804											
GGTLC1	92086	broad.mit.edu	37	chr20	23967200	23967200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatcgggtgagtggtgtCgtcagagatctgggcccgga	19	7	2	3			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr20:23967200C>T	uc002wts.2	-	2	182	c.49G>A	c.(49-51)GAC>AAC	p.D17N	GGTLC1_uc002wtu.2_Missense_Mutation_p.D17N	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	17							gamma-glutamyltransferase activity			ovary(1)	1						TGAGTGGTGTCGTCAGAGATC	0.637													T	23967200	C	T	23967200	3	4	218	1	0	0	0	0	1	0	0	0	6365	884	31	1	648	1	GGTLC1	20	23967200	Missense_Mutation	SNP	C	TCGA-D7-8570-01A-11D-2340-08	3617056	23967200	39058320	139	113805											
EPB41L1	2036	broad.mit.edu	37	chr20	34775685	34775685	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtagacctgcaccatgccaaGgtaccaccagcttcctgggt	10	14	0	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr20:34775685G>C	uc002xfb.2	+	8	1044	c.873G>C	c.(871-873)AAG>AAC	p.K291N	EPB41L1_uc002xeu.2_Missense_Mutation_p.K229N|EPB41L1_uc010zvo.1_Missense_Mutation_p.K291N|EPB41L1_uc002xev.2_Missense_Mutation_p.K291N|EPB41L1_uc002xew.2_Missense_Mutation_p.K194N|EPB41L1_uc002xex.2_Missense_Mutation_p.K260N|EPB41L1_uc002xey.2_Missense_Mutation_p.K218N|EPB41L1_uc002xez.2_Missense_Mutation_p.K229N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	291	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ACCATGCCAAGGTACCACCAG	0.537													C	34775685	G	C	34775685	3	2	218	1	0	0	0	0	1	0	0	0	5152	1014	35	5	899	5	EPB41L1	20	34775685	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	10808485	34775685	28249835	140	113806											
PCIF1	63935	broad.mit.edu	37	chr20	44574499	44574499	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggagagatggtcaaggtcAgccgcaactacttcagcaag	13	9	3	1			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr20:44574499A>T	uc002xqs.2	+	12	1632	c.1318A>T	c.(1318-1320)AGC>TGC	p.S440C	PCIF1_uc002xqt.2_Missense_Mutation_p.S20C|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	440						nucleus				skin(1)	1						GGTCAAGGTCAGCCGCAACTA	0.587													T	44574499	A	T	44574499	3	4	218	1	0	0	0	0	1	0	0	0	11580	188	7	5	1356	5	PCIF1	20	44574499	Missense_Mutation	SNP	A	TCGA-D7-8570-01A-11D-2340-08	9798814	44574499	18451021	141	113807											
SLCO4A1	28231	broad.mit.edu	37	chr20	61287965	61287965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccatagccccctggaCaccagcaagcagcccctctg	9	19	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr20:61287965C>T	uc002ydb.1	+	2	364	c.159C>T	c.(157-159)GAC>GAT	p.D53D	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	53	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GCCCCCTGGACACCAGCAAGC	0.716													T	61287965	C	T	61287965	2	4	218	1	0	0	0	0	0	0	0	1	14729	477	17	4		4	SLCO4A1	20	61287965	Silent	SNP	C	TCGA-D7-8570-01A-11D-2340-08	16713466	61287965	1737555	142	113808											
DIDO1	11083	broad.mit.edu	37	chr20	61542173	61542173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatacagggcgttggggtcGtaaccctcacattcaggctt	11	11	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr20:61542173G>A	uc002ydr.1	-	3	1056	c.792C>T	c.(790-792)TAC>TAT	p.Y264Y	DIDO1_uc002yds.1_Silent_p.Y264Y|DIDO1_uc002ydt.1_Silent_p.Y264Y|DIDO1_uc002ydu.1_Silent_p.Y264Y|DIDO1_uc002ydv.1_Silent_p.Y264Y|DIDO1_uc002ydw.1_Silent_p.Y264Y|DIDO1_uc002ydx.1_Silent_p.Y264Y|DIDO1_uc011aao.1_Silent_p.Y264Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	264					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CGTTGGGGTCGTAACCCTCAC	0.537													A	61542173	G	A	61542173	2	1	218	1	0	0	0	0	0	0	0	1	4522	1140	40	1		1	DIDO1	20	61542173	Silent	SNP	G	TCGA-D7-8570-01A-11D-2340-08	254208	61542173	1483347	143	113809											
ARVCF	421	broad.mit.edu	37	chr22	19967604	19967604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggtcccgccagcgcGgctccttgcgggcgctatcc	14	17	1	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr22:19967604G>A	uc002zqz.2	-	6	1329	c.1058C>T	c.(1057-1059)CCG>CTG	p.P353L	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	353	ARM 1.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CCGCCAGCGCGGCTCCTTGCG	0.721													A	19967604	G	A	19967604	3	1	218	1	0	0	0	0	1	0	0	0	1003	1116	39	1	1886	1	ARVCF	22	19967604	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08		19967604	31336962	144	113810											
EFCAB6	64800	broad.mit.edu	37	chr22	43933323	43933323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttgcattctttcaggaGctggcgccagcagccctgga	11	14	2	0			TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chr22:43933323G>T	uc003bdy.1	-	29	4197	c.3982C>A	c.(3982-3984)CTC>ATC	p.L1328I	EFCAB6_uc003bdz.1_Missense_Mutation_p.L1176I|EFCAB6_uc010gzi.1_Missense_Mutation_p.L1176I	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1328	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTTTCAGGAGCTGGCGCCAG	0.567													T	43933323	G	T	43933323	3	4	218	1	0	0	0	0	1	0	0	0	4939	971	34	5	539	5	EFCAB6	22	43933323	Missense_Mutation	SNP	G	TCGA-D7-8570-01A-11D-2340-08	23965719	43933323	7371243	145	113811											
CHIC1	53344	broad.mit.edu	37	chrX	72783280	72783282	+	In_Frame_Del	DEL	GAG	GAG	-													atgaggaggaagaggaggaaGaggaggaggaggaagaagag							TCGA-D7-8570-01A-11D-2340-08	TCGA-D7-8570-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	429aad6f-816d-4739-baa3-b0ebf2fcd501	37b5cb53-cfff-47ae-9769-b5df2c72f1e5	g.chrX:72783280_72783282delGAG	uc004ebk.3	+	1	297_299	c.160_162delGAG	c.(160-162)GAGdel	p.E68del	CHIC1_uc010nlo.2_RNA|CHIC1_uc011mql.1_In_Frame_Del_p.E68del|CHIC1_uc004ebl.3_In_Frame_Del_p.E68del	NM_001039840	NP_001034929	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	68	Poly-Glu.|Potential.					cytoplasmic membrane-bounded vesicle|plasma membrane					0	Renal(35;0.156)					agaggaggaagaggaggaggagg	0.32													-	72783282	GAG	-	72783280	7	5	218	1	0	1	0	1	0	0	0	0	3343	943	33	0	162	0	CHIC1	23	72783280	In_Frame_Del	DEL	GAG	TCGA-D7-8570-01A-11D-2340-08		72783280	82487280	146	113812											
ZBTB8A	653121	broad.mit.edu	37	chr1	33060694	33060694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcaagtgcccgtactgcaCacatgtggtgaagcggaagg	13	9	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:33060694C>A	uc001bvn.2	+	4	1348	c.863C>A	c.(862-864)ACA>AAA	p.T288K	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.T288K	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	288	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCGTACTGCACACATGTGGTG	0.453													A	33060694	C	A	33060694	3	1	219	1	0	0	0	0	1	0	0	0	17553	478	17	5	869	5	ZBTB8A	1	33060694	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08		33060694	216189927	1	113813											
TMEM125	128218	broad.mit.edu	37	chr1	43738884	43738884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcgcttttgctgctggGcctgctgctgtatcaagtgg	15	10	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:43738884G>A	uc001cir.2	+	4	1061	c.491G>A	c.(490-492)GGC>GAC	p.G164D	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.G164D	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	164	Helical; (Potential).					integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGCTGCTGGGCCTGCTGCTG	0.677													A	43738884	G	A	43738884	3	1	219	1	0	0	0	0	1	0	0	0	16034	1203	42	2	493	2	TMEM125	1	43738884	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	10678190	43738884	205511737	2	113814											
NASP	4678	broad.mit.edu	37	chr1	46073520	46073520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtggatgtgggtggggacGagccagaggagaaggtagtt	20	4	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:46073520G>A	uc001coi.1	+	6	1039	c.937G>A	c.(937-939)GAG>AAG	p.E313K	NASP_uc010olq.1_Missense_Mutation_p.E276K|NASP_uc001coh.1_Missense_Mutation_p.E315K|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.E249K|NASP_uc001cok.1_Missense_Mutation_p.E196K	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	313	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGGTGGGGACGAGCCAGAGGA	0.532													A	46073520	G	A	46073520	3	1	219	1	0	0	0	0	1	0	0	0	10172	1059	37	1	1036	1	NASP	1	46073520	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	2334636	46073520	203177101	3	113815											
IFI44L	10964	broad.mit.edu	37	chr1	79093939	79093939	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attattgatgagcaactggtGtgtcgtttatcgaaaacgga	11	5	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:79093939G>T	uc010oro.1	+	2	518	c.339G>T	c.(337-339)GTG>GTT	p.V113V	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	113						cytoplasm					0						AGCAACTGGTGTGTCGTTTAT	0.299													T	79093939	G	T	79093939	2	4	219	1	0	0	0	0	0	0	0	1	7518	1364	48	5		5	IFI44L	1	79093939	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	33020419	79093939	170156682	4	113816											
EVI5	7813	broad.mit.edu	37	chr1	92979379	92979379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttccgtgcaaaggaaaaCcaacaccagtttcctgtaag	7	10	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:92979379C>T	uc001dox.2	-	18	2277	c.2267G>A	c.(2266-2268)GGT>GAT	p.G756D	EVI5_uc010otf.1_Missense_Mutation_p.G767D	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	756	Targeting to the centrosomes.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		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)		CAAAGGAAAACCAACACCAGT	0.438													T	92979379	C	T	92979379	3	4	219	1	0	0	0	0	1	0	0	0	5289	507	18	4	169	4	EVI5	1	92979379	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	13885440	92979379	156271242	5	113817											
VAV3	10451	broad.mit.edu	37	chr1	108145689	108145689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgctaattgcatattcTcctgactctttggtcctgtg	7	9	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:108145689T>C	uc001dvk.1	-	23	2166	c.2112A>G	c.(2110-2112)GGA>GGG	p.G704G	VAV3_uc010ouu.1_Silent_p.G108G|VAV3_uc001dvj.1_Silent_p.G144G|VAV3_uc010ouv.1_Silent_p.G108G|VAV3_uc010ouw.1_Silent_p.G704G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	704	SH2.				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			ovary(5)|lung(2)|breast(2)	9		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)		TTGCATATTCTCCTGACTCTT	0.373													C	108145689	T	C	108145689	2	2	219	1	0	0	0	0	0	0	0	1	17130	1538	54	3		3	VAV3	1	108145689	Silent	SNP	T	TCGA-D7-8572-01A-11D-2340-08	15166310	108145689	141104932	6	113818											
KCND3	3752	broad.mit.edu	37	chr1	112525240	112525240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaatcagctcatcctgccGcttgttcttgtcggccgggg	12	13	3	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:112525240G>A	uc001ebu.1	-	2	589	c.109C>T	c.(109-111)CGG>TGG	p.R37W	KCND3_uc001ebv.1_Missense_Mutation_p.R37W	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	37	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		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)		TCATCCTGCCGCTTGTTCTTG	0.682													A	112525240	G	A	112525240	3	1	219	1	0	0	0	0	1	0	0	0	8020	1086	38	1	1886	1	KCND3	1	112525240	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	4379551	112525240	136725381	7	113819											
SYT6	148281	broad.mit.edu	37	chr1	114640394	114640394	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaaggagtgccagtgtgcGatgggcttccgggggtatgc	17	9	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:114640394G>A	uc001eev.2	-	6	1465	c.1215C>T	c.(1213-1215)ATC>ATT	p.I405I	SYT6_uc001eeu.2_Silent_p.I50I	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	490	Cytoplasmic (Potential).|Necessary for cell membrane association (isoform 2) (By similarity).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)		GCCAGTGTGCGATGGGCTTCC	0.577													A	114640394	G	A	114640394	2	1	219	1	0	0	0	0	0	0	0	1	15475	1048	37	1		1	SYT6	1	114640394	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	2115154	114640394	134610227	8	113820											
SPAG17	200162	broad.mit.edu	37	chr1	118538991	118538991	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagacagtatgggtcctctAcctggctgttcctgcactgg	11	13	1	1	rs140829839		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:118538991A>C	uc001ehk.2	-	34	5121	c.5053_splice	c.e34+1	p.G1685_splice		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TGGGTCCTCTACCTGGCTGTT	0.423													C	118538991	A	C	118538991	5	2	219	1	0	0	0	0	0	0	1	0	14979	405	14	5	1676	5	SPAG17	1	118538991	Splice_Site	SNP	A	TCGA-D7-8572-01A-11D-2340-08	3898597	118538991	130711630	9	113821											
FLG	2312	broad.mit.edu	37	chr1	152275264	152275264	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacataaacctgggtccttaTtaatatacgttgcataatac	5	9	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:152275264T>C	uc001ezu.1	-	3	12134	c.12098A>G	c.(12097-12099)AAT>AGT	p.N4033S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	4033					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTCCTTATTAATATACGT	0.353									Ichthyosis				C	152275264	T	C	152275264	3	2	219	1	0	0	0	0	1	0	0	0	5922	1493	52	3	91	3	FLG	1	152275264	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	33736273	152275264	96975357	10	113822											
LCE1D	353134	broad.mit.edu	37	chr1	152770308	152770319	+	In_Frame_Del	DEL	CTCCCAAGTGCA	CTCCCAAGTGCA	-													ccagcagcagtgccagccccCtcccaagtgcactcccaagt							TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:152770307_152770318CCTCCCAAGTGCA>C	uc021ozh.1	+	0	37_48	c.37_48CCTCCCAAGTGCA>C	c.(37-48)cctcccaagtgc>C	p.PPKC13del	LCE1D_uc009wnp.3_In_Frame_Del_p.PPKC13del	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	13	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	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;0.206)			GTGCCAGCCCCctcccaagtgcactcccaagt	0.618													-	152770319	CTCCCAAGTGCA	-	152770308	7	5	219	1	0	1	0	1	0	0	0	0	8662	681	24	0	40	0	LCE1D	1	152770308	In_Frame_Del	DEL	CTCCCAAGTGCA	TCGA-D7-8572-01A-11D-2340-08	495044	152770308	96480313	11	113823											
OR6K6	128371	broad.mit.edu	37	chr1	158725554	158725554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttttcaaccccatcatcTatagcctgaaaaacaaggac	4	13	3	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:158725554T>C	uc001fsw.1	+	1	949	c.949T>C	c.(949-951)TAT>CAT	p.Y317H		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	317	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					CCCCATCATCTATAGCCTGAA	0.443													C	158725554	T	C	158725554	3	2	219	1	0	0	0	0	1	0	0	0	11204	1522	53	3	951	3	OR6K6	1	158725554	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	5955246	158725554	90525067	12	113824											
OR10J1	26476	broad.mit.edu	37	chr1	159410409	159410409	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccagctgatctcggtgacCtacactgtcatcactcccct	7	16	3	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:159410409C>G	uc010piv.1	+	1	861	c.861C>G	c.(859-861)ACC>ACG	p.T287T	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	287	Helical; Name=7; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					TCTCGGTGACCTACACTGTCA	0.507													G	159410409	C	G	159410409	2	3	219	1	0	0	0	0	0	0	0	1	10910	668	24	5		5	OR10J1	1	159410409	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	684855	159410409	89840212	13	113825											
NME7	29922	broad.mit.edu	37	chr1	169200055	169200055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatacatttctgtcaccatGtcctatgatatgtaatataa	5	7	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:169200055G>A	uc001gfu.2	-	10	1129	c.891C>T	c.(889-891)GAC>GAT	p.D297D	NME7_uc010plq.1_RNA|NME7_uc001gft.2_Silent_p.D261D	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	297					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)					CTGTCACCATGTCCTATGATA	0.249													A	169200055	G	A	169200055	2	1	219	1	0	0	0	0	0	0	0	1	10496	1368	48	4		4	NME7	1	169200055	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	9789646	169200055	80050566	14	113826											
KIFAP3	22920	broad.mit.edu	37	chr1	170015873	170015873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctgacaatgaatcaCggcggttctgtagatagtac	9	9	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:170015873C>T	uc001ggv.2	-	3	570	c.299G>A	c.(298-300)CGT>CAT	p.R100H	KIFAP3_uc010ply.1_Translation_Start_Site|KIFAP3_uc001ggw.1_Missense_Mutation_p.R56H	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	100					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			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAATGAATCACGGCGGTTCTG	0.368													T	170015873	C	T	170015873	3	4	219	1	0	0	0	0	1	0	0	0	8311	536	19	1	2151	1	KIFAP3	1	170015873	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	815818	170015873	79234748	15	113827											
ESRRG	2104	broad.mit.edu	37	chr1	216692635	216692635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggactggtcttcgtccattaTataatcgtctgcatagacaa	8	9	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:216692635T>A	uc001hkw.1	-	6	1157	c.991A>T	c.(991-993)ATA>TTA	p.I331L	ESRRG_uc001hky.1_Missense_Mutation_p.I308L|ESRRG_uc009xdp.1_Missense_Mutation_p.I308L|ESRRG_uc001hkz.1_Missense_Mutation_p.I269L|ESRRG_uc010puc.1_Missense_Mutation_p.I308L|ESRRG_uc001hla.1_Missense_Mutation_p.I308L|ESRRG_uc001hlb.1_Missense_Mutation_p.I308L|ESRRG_uc010pud.1_Missense_Mutation_p.I139L|ESRRG_uc001hlc.1_Missense_Mutation_p.I308L|ESRRG_uc001hld.1_Missense_Mutation_p.I308L|ESRRG_uc001hkx.1_Missense_Mutation_p.I343L|ESRRG_uc009xdo.1_Missense_Mutation_p.I308L|ESRRG_uc001hle.1_Missense_Mutation_p.I308L	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	331					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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCGTCCATTATATAATCGTCT	0.418													A	216692635	T	A	216692635	3	1	219	1	0	0	0	0	1	0	0	0	5262	1406	49	5	393	5	ESRRG	1	216692635	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	46676762	216692635	32557986	16	113828											
ARID4B	51742	broad.mit.edu	37	chr1	235403717	235403717	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagctcatcaatctgtttccTatcatcctcatcttcatcac	2	14	8	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:235403717T>A	uc001hwq.2	-	8	994	c.496A>T	c.(496-498)AGG>TGG	p.R166W	ARID4B_uc001hwr.2_Missense_Mutation_p.R166W|ARID4B_uc001hws.3_Missense_Mutation_p.R166W|ARID4B_uc001hwu.1_Missense_Mutation_p.R166W|ARID4B_uc001hwt.3_5'UTR	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	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)			ATCTGTTTCCTATCATCCTCA	0.368													A	235403717	T	A	235403717	3	1	219	1	0	0	0	0	1	0	0	0	920	1521	53	5	3510	5	ARID4B	1	235403717	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	18711082	235403717	13846904	17	113829											
WDR64	128025	broad.mit.edu	37	chr1	241912907	241912907	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaaggtgttgccggagggGaaagactggaaggaggacga	19	4	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr1:241912907G>A	uc001hzf.1	+	8	936	c.783G>A	c.(781-783)GGG>GGA	p.G261G	WDR64_uc001hzg.1_Silent_p.G7G	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	541										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGCCGGAGGGGAAAGACTGGA	0.522													A	241912907	G	A	241912907	2	1	219	1	0	0	0	0	0	0	0	1	17312	1161	41	4		4	WDR64	1	241912907	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	6509190	241912907	7337714	18	113830											
WDR35	57539	broad.mit.edu	37	chr2	20166586	20166586	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaacatatttttcattgtTtttcgtatcccagaagacaa	4	7	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:20166586T>A	uc002rdi.2	-	10	1201	c.1093A>T	c.(1093-1095)AAC>TAC	p.N365Y	WDR35_uc002rdj.2_Missense_Mutation_p.N365Y|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	365										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCATTGTTTTTCGTATCC	0.368													A	20166586	T	A	20166586	3	1	219	1	0	0	0	0	1	0	0	0	17286	1841	64	5	2528	5	WDR35	2	20166586	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08		20166586	223032787	19	113831											
PUM2	23369	broad.mit.edu	37	chr2	20507793	20507793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgttgagctgcagTtaactgttgaactgttagtg	12	6	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:20507793T>G	uc002rds.1	-	6	852	c.829A>C	c.(829-831)ACT>CCT	p.T277P	PUM2_uc002rdt.1_Missense_Mutation_p.T277P|PUM2_uc002rdr.2_Missense_Mutation_p.T216P|PUM2_uc010yjy.1_Missense_Mutation_p.T277P|PUM2_uc002rdu.1_Missense_Mutation_p.T277P|PUM2_uc010yjz.1_Missense_Mutation_p.T216P	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	277					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCTGCAGTTAACTGTTGA	0.358													G	20507793	T	G	20507793	3	3	219	1	0	0	0	0	1	0	0	0	12826	1725	60	5	2425	5	PUM2	2	20507793	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	341207	20507793	222691580	20	113832											
MFSD9	84804	broad.mit.edu	37	chr2	103335079	103335079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacgccaataagggtgcCgctggcctgggccccgccca	12	19	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:103335079C>T	uc002tcb.2	-	6	1293	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	409					transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						ATAAGGGTGCCGCTGGCCTGG	0.667													T	103335079	C	T	103335079	3	4	219	1	0	0	0	0	1	0	0	0	9539	652	23	1	203	1	MFSD9	2	103335079	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	82827286	103335079	139864294	21	113833											
CKAP2L	150468	broad.mit.edu	37	chr2	113514603	113514603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaactcttgctagaaggCttagagtatgggttagaaga	12	4	1	5			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:113514603C>T	uc002tie.2	-	4	424	c.345G>A	c.(343-345)AAG>AAA	p.K115K	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	115						centrosome					0						TGCTAGAAGGCTTAGAGTATG	0.448													T	113514603	C	T	113514603	2	4	219	1	0	0	0	0	0	0	0	1	3443	796	28	2		2	CKAP2L	2	113514603	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	10179524	113514603	129684770	22	113834											
SCN3A	6328	broad.mit.edu	37	chr2	166011006	166011006	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagctgttcgagcatctgctGaaattcggcctctttttgtt	9	9	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:166011006G>T	uc002ucx.2	-	11	1828	c.1336C>A	c.(1336-1338)CAG>AAG	p.Q446K	SCN3A_uc002ucy.2_Missense_Mutation_p.Q446K|SCN3A_uc002ucz.2_Missense_Mutation_p.Q446K|SCN3A_uc002uda.1_Missense_Mutation_p.Q315K|SCN3A_uc002udb.1_Missense_Mutation_p.Q315K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AGCATCTGCTGAAATTCGGCC	0.398													T	166011006	G	T	166011006	3	4	219	1	0	0	0	0	1	0	0	0	13918	1299	45	5	4738	5	SCN3A	2	166011006	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	52496403	166011006	77188367	23	113835											
STK39	27347	broad.mit.edu	37	chr2	169018346	169018346	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaagaatattaccagctttCaaatccctattagaaaaaaa	4	7	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:169018346C>A	uc002uea.2	-	5	739	c.579G>T	c.(577-579)TTG>TTT	p.L193F		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	193	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						TACCAGCTTTCAAATCCCTAT	0.308													A	169018346	C	A	169018346	3	1	219	1	0	0	0	0	1	0	0	0	15304	825	29	5	1114	5	STK39	2	169018346	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3007340	169018346	74181027	24	113836											
ECEL1	9427	broad.mit.edu	37	chr2	233350955	233350955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggggatggcgtggcGccgcagccaaccgccgcagg	18	14	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:233350955G>A	uc002vsv.2	-	2	614	c.409C>T	c.(409-411)CGC>TGC	p.R137C	ECEL1_uc010fya.1_Missense_Mutation_p.R137C|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	137	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		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)		ATGGCGTGGCGCCGCAGCCAA	0.642													A	233350955	G	A	233350955	3	1	219	1	0	0	0	0	1	0	0	0	4891	1087	38	1	1986	1	ECEL1	2	233350955	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	64332609	233350955	9848418	25	113837											
PDCD1	5133	broad.mit.edu	37	chr2	242794972	242794972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcctcggggaaggcggcCagcttgtccgtctggttgct	16	12	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr2:242794972C>T	uc002wcq.3	-	2	305	c.237G>A	c.(235-237)CTG>CTA	p.L79L	PDCD1_uc010fzs.2_Silent_p.L10L|PDCD1_uc010fzt.2_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	79	Ig-like V-type.|Extracellular (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		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)		GGAAGGCGGCCAGCTTGTCCG	0.632													T	242794972	C	T	242794972	2	4	219	1	0	0	0	0	0	0	0	1	11615	581	21	4		4	PDCD1	2	242794972	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	9444017	242794972	404401	26	113838											
CRBN	51185	broad.mit.edu	37	chr3	3192625	3192625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaacagagcagatcgcGttaagccccaaaatttttga	10	9	0	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:3192625G>A	uc003bpq.2	-	11	1272	c.1253C>T	c.(1252-1254)ACG>ATG	p.T418M	CRBN_uc003bpr.2_Missense_Mutation_p.T417M|CRBN_uc010hbw.2_Missense_Mutation_p.T374M	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	418	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		AGCAGATCGCGTTAAGCCCCA	0.428													A	3192625	G	A	3192625	3	1	219	1	0	0	0	0	1	0	0	0	3851	1145	40	1	79	1	CRBN	3	3192625	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		3192625	194829805	27	113839											
JAGN1	84522	broad.mit.edu	37	chr3	9934908	9934908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctctaccgccatggCaaggcctaccgtttcctctt	8	16	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:9934908C>T	uc003btt.3	+	2	535	c.399C>T	c.(397-399)GGC>GGT	p.G133G	CIDEC_uc003bto.2_Intron	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1	133	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(1)	1	Medulloblastoma(99;0.227)					ACCGCCATGGCAAGGCCTACC	0.522													T	9934908	C	T	9934908	2	4	219	1	0	0	0	0	0	0	0	1	7936	697	25	2		2	JAGN1	3	9934908	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	6742283	9934908	188087522	28	113840											
SUSD5	26032	broad.mit.edu	37	chr3	33194911	33194911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcaggagtaactaggaCgttttcatccagccctactg	9	11	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:33194911C>T	uc003cfo.1	-	5	1631	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	405	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GTAACTAGGACGTTTTCATCC	0.532													T	33194911	C	T	33194911	3	4	219	1	0	0	0	0	1	0	0	0	15408	536	19	1	680	1	SUSD5	3	33194911	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	23260003	33194911	164827519	29	113841											
LRRFIP2	9209	broad.mit.edu	37	chr3	37114295	37114295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcataccccaatttttttatCtttccaaagaagtgtctcct	3	11	3	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:37114295C>G	uc003cgp.2	-	22	1873	c.1450G>C	c.(1450-1452)GAT>CAT	p.D484H	LRRFIP2_uc011ayf.1_Missense_Mutation_p.D300H|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	484	Potential.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						ATTTTTTTATCTTTCCAAAGA	0.418													G	37114295	C	G	37114295	3	3	219	1	0	0	0	0	1	0	0	0	9028	913	32	5	747	5	LRRFIP2	3	37114295	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3919384	37114295	160908135	30	113842											
CELSR3	1951	broad.mit.edu	37	chr3	48683606	48683606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctaggctgatgggggaCtccaggattccccttaggaa	12	10	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:48683606C>T	uc003cul.2	-	22	7661	c.7380G>A	c.(7378-7380)GAG>GAA	p.E2460E	CELSR3_uc003cuf.1_Silent_p.E2530E|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Silent_p.E443E	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2460	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGATGGGGGACTCCAGGATTC	0.602													T	48683606	C	T	48683606	2	4	219	1	0	0	0	0	0	0	0	1	3223	564	20	4		4	CELSR3	3	48683606	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	11569311	48683606	149338824	31	113843											
NISCH	11188	broad.mit.edu	37	chr3	52521725	52521725	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttcggcatcgcagtcttCgagatcccgcaccaggagtc	11	14	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:52521725C>T	uc011beg.1	+	17	2289	c.2217C>T	c.(2215-2217)TTC>TTT	p.F739F	NISCH_uc003ded.3_Silent_p.F739F|NISCH_uc003dee.3_Silent_p.F228F|NISCH_uc003deg.1_RNA	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	739	Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				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)		TCGCAGTCTTCGAGATCCCGC	0.612													T	52521725	C	T	52521725	2	4	219	1	0	0	0	0	0	0	0	1	10432	883	31	1		1	NISCH	3	52521725	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3838119	52521725	145500705	32	113844											
ROBO2	6092	broad.mit.edu	37	chr3	77617561	77617570	+	Frame_Shift_Del	DEL	CACCACGGTT	CACCACGGTT	-													aatccagttgtgctgactccCaccacggttcaggtcacatg							TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:77617560_77617569CCACCACGGTT>C	uc011bgk.2	+	13	2601_2610	c.1958_1967CCACCACGGTT>C	c.(1957-1968)cccaccacggttfs	p.P653fs	ROBO2_uc021xat.1_Frame_Shift_Del_p.P665fs|ROBO2_uc003dpy.4_Frame_Shift_Del_p.P649fs|ROBO2_uc003dpz.3_Frame_Shift_Del_p.P653fs|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	649	Fibronectin type-III 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)		GTGCTGACTCCCACCACGGTTCAGGTCACA	0.462													-	77617570	CACCACGGTT	-	77617561	7	5	219	1	0	1	0	1	0	0	0	0	13514	581	21	0	1999	0	ROBO2	3	77617561	Frame_Shift_Del	DEL	CACCACGGTT	TCGA-D7-8572-01A-11D-2340-08	25095836	77617561	120404869	33	113845											
ARL13B	200894	broad.mit.edu	37	chr3	93768322	93768322	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaccacttaatatagatgActgtgctcctgagagtccaa	8	9	0	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:93768322A>T	uc003drc.2	+	8	1383	c.1097A>T	c.(1096-1098)GAC>GTC	p.D366V	ARL13B_uc010hop.2_Missense_Mutation_p.D217V|ARL13B_uc003drd.2_Missense_Mutation_p.D259V|ARL13B_uc003dre.2_Missense_Mutation_p.D351V|ARL13B_uc003drf.2_Missense_Mutation_p.D366V|ARL13B_uc003drg.2_Missense_Mutation_p.D263V	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	366							GTP binding				0						AATATAGATGACTGTGCTCCT	0.378													T	93768322	A	T	93768322	3	4	219	1	0	0	0	0	1	0	0	0	929	275	10	5	1127	5	ARL13B	3	93768322	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	16150761	93768322	104254108	34	113846											
SMC4	10051	broad.mit.edu	37	chr3	160148502	160148502	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcttgaggacaaagcagcaGaggtcgtaaagaatacaaat	11	6	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:160148502G>A	uc003fdh.2	+	19	3024	c.2911G>A	c.(2911-2913)GAG>AAG	p.E971K	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.E946K|SMC4_uc003fdj.2_Missense_Mutation_p.E971K|SMC4_uc010hwd.2_Missense_Mutation_p.E971K|SMC4_uc003fdl.2_Missense_Mutation_p.E674K	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	971	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAAAGCAGCAGAGGTCGTAAA	0.408													A	160148502	G	A	160148502	3	1	219	1	0	0	0	0	1	0	0	0	14785	943	33	4	2981	4	SMC4	3	160148502	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	66380180	160148502	37873928	35	113847											
SMC4	10051	broad.mit.edu	37	chr3	160150896	160150896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagttcattggctttagtaTttgctcttcaccactacaag	6	9	3	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:160150896T>G	uc003fdh.2	+	23	3726	c.3613T>G	c.(3613-3615)TTT>GTT	p.F1205V	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.F1180V|SMC4_uc003fdj.2_Missense_Mutation_p.F1205V|SMC4_uc010hwd.2_Missense_Mutation_p.F1147V|SMC4_uc003fdl.2_Missense_Mutation_p.F908V	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	1205	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCTTTAGTATTTGCTCTTCA	0.368													G	160150896	T	G	160150896	3	3	219	1	0	0	0	0	1	0	0	0	14785	1493	52	5	3699	5	SMC4	3	160150896	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	2394	160150896	37871534	36	113848											
MCCC1	56922	broad.mit.edu	37	chr3	182733324	182733324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtagaacactttctttaCtgtgccatcctttggagact	7	10	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:182733324C>T	uc003fle.2	-	19	2217	c.2080G>A	c.(2080-2082)GTA>ATA	p.V694I	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.V577I|MCCC1_uc003flg.2_Missense_Mutation_p.V585I	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	694	Biotinyl-binding.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACTTTCTTTACTGTGCCATCC	0.433													T	182733324	C	T	182733324	3	4	219	1	0	0	0	0	1	0	0	0	9374	565	20	4	101	4	MCCC1	3	182733324	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	22582428	182733324	15289106	37	113849											
C3orf70	285382	broad.mit.edu	37	chr3	184801261	184801261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgagcgagactgagatcTgaatggtgtttgtgggttcc	16	6	1	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:184801261T>G	uc003fpd.2	-	2	478	c.287A>C	c.(286-288)CAG>CCG	p.Q96P		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	96											0						GACTGAGATCTGAATGGTGTT	0.502													G	184801261	T	G	184801261	3	3	219	1	0	0	0	0	1	0	0	0	2242	1580	55	5	469	5	C3orf70	3	184801261	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	2067937	184801261	13221169	38	113850											
BCL6	604	broad.mit.edu	37	chr3	187447510	187447510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactatcacatgggagtgccCgctccttggggaaggggttg	15	10	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr3:187447510C>T	uc003frp.3	-	5	1140	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	BCL6_uc011bsf.1_Missense_Mutation_p.R228Q|BCL6_uc010hza.2_Missense_Mutation_p.R126Q|BCL6_uc003frq.1_Missense_Mutation_p.R228Q	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	228					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			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGGGAGTGCCCGCTCCTTGGG	0.587			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								T	187447510	C	T	187447510	3	4	219	1	0	0	0	0	1	0	0	0	1376	652	23	1	1461	1	BCL6	3	187447510	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	2646249	187447510	10574920	39	113851											
PDGFRA	5156	broad.mit.edu	37	chr4	55133725	55133725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttccctgtacagagaaagGtttcattgaaatcaaaccca	6	10	3	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr4:55133725G>T	uc003han.3	+	7	1269	c.938G>T	c.(937-939)GGT>GTT	p.G313V	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G207V|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	313	Extracellular (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	ACAGAGAAAGGTTTCATTGAA	0.448			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	55133725	G	T	55133725	3	4	219	1	0	0	0	0	1	0	0	0	11661	1261	44	5	960	5	PDGFRA	4	55133725	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		55133725	136020551	40	113852											
TMEM165	55858	broad.mit.edu	37	chr4	56277800	56277800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatatttacaccagcagCtccagttcataccaataaag	5	10	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr4:56277800C>T	uc003hax.2	+	2	494	c.227C>T	c.(226-228)GCT>GTT	p.A76V	TMEM165_uc011bzy.1_Missense_Mutation_p.A13V	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	transmembrane protein 165	76						integral to membrane					0	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)			ACACCAGCAGCTCCAGTTCAT	0.289													T	56277800	C	T	56277800	3	4	219	1	0	0	0	0	1	0	0	0	16077	797	28	2	233	2	TMEM165	4	56277800	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	1144075	56277800	134876476	41	113853											
CCDC158	339965	broad.mit.edu	37	chr4	77253601	77253605	+	Frame_Shift_Del	DEL	ATCTC	ATCTC	-													ttacctatggcacatgtctgAtctcaggctggattcagtaa							TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr4:77253600_77253604GATCTC>G	uc003hkb.4	-	18	3004_3008	c.2851_2855GAGATC>C	c.(2851-2856)agatcafs	p.R951fs		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	951	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCACATGTCTGATCTCAGGCTGGAT	0.337													-	77253605	ATCTC	-	77253601	7	5	219	1	0	1	0	1	0	0	0	0	2790	333	12	0	511	0	CCDC158	4	77253601	Frame_Shift_Del	DEL	ATCTC	TCGA-D7-8572-01A-11D-2340-08	20975801	77253601	113900675	42	113854											
HERC5	51191	broad.mit.edu	37	chr4	89388332	89388332	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccgcttccagtgaaagtatCatcaagtgaagaactcaaac	8	10	3	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr4:89388332C>T	uc003hrt.2	+	7	1187	c.1034C>T	c.(1033-1035)TCA>TTA	p.S345L	HERC5_uc011cdm.1_5'Flank	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	345	RCC1 5.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTGAAAGTATCATCAAGTGAA	0.393													T	89388332	C	T	89388332	3	4	219	1	0	0	0	0	1	0	0	0	7061	838	29	4	1060	4	HERC5	4	89388332	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	12134731	89388332	101765944	43	113855											
MMRN1	22915	broad.mit.edu	37	chr4	90856716	90856716	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgaagttctctttccaatgGacaataagatggacaaaatg	8	7	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr4:90856716G>C	uc003hst.2	+	6	1956	c.1885G>C	c.(1885-1887)GAC>CAC	p.D629H	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.D371H	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	629	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTTCCAATGGACAATAAGAT	0.363													C	90856716	G	C	90856716	3	2	219	1	0	0	0	0	1	0	0	0	9670	1174	41	5	1907	5	MMRN1	4	90856716	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	1468384	90856716	100297560	44	113856											
PDHA2	5161	broad.mit.edu	37	chr4	96762399	96762399	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagaattaggccatcacatCtacagcagtgattcatcttt	7	9	4	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr4:96762399C>A	uc003htr.3	+	1	1161	c.1098C>A	c.(1096-1098)ATC>ATA	p.I366I		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	366					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCCATCACATCTACAGCAGTG	0.433													A	96762399	C	A	96762399	2	1	219	1	0	0	0	0	0	0	0	1	11665	903	32	5		5	PDHA2	4	96762399	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	5905683	96762399	94391877	45	113857											
PRDM9	56979	broad.mit.edu	37	chr5	23521209	23521209	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttactgaatgcaagTggctcagagcaggctcagaa	11	8	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:23521209T>A	uc003jgo.2	+	6	611	c.429T>A	c.(427-429)AGT>AGA	p.S143R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	143					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TGAATGCAAGTGGCTCAGAGC	0.423										HNSCC(3;0.000094)			A	23521209	T	A	23521209	3	1	219	1	0	0	0	0	1	0	0	0	12463	1693	59	5	447	5	PRDM9	5	23521209	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08		23521209	157394051	46	113858											
PRKAA1	5562	broad.mit.edu	37	chr5	40764627	40764627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacataccatcaatactaCggaaatccagtagataagtt	6	8	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:40764627C>T	uc003jmc.2	-	8	1430	c.1424G>A	c.(1423-1425)CGT>CAT	p.R475H	PRKAA1_uc003jmb.2_Missense_Mutation_p.R490H	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	475					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)	ATCAATACTACGGAAATCCAG	0.368													T	40764627	C	T	40764627	3	4	219	1	0	0	0	0	1	0	0	0	12493	536	19	1	263	1	PRKAA1	5	40764627	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	17243418	40764627	140150633	47	113859											
PIK3R1	5295	broad.mit.edu	37	chr5	67589663	67589663	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatacccgcacatcccagGtgagttttctatgaaaatca	6	10	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:67589663G>A	uc003jva.2	+	11	1985	c.1425_splice	c.e11+1	p.Q475_splice	PIK3R1_uc003jvb.2_Splice_Site_p.Q475_splice|PIK3R1_uc003jvc.2_Splice_Site_p.Q175_splice|PIK3R1_uc003jvd.2_Splice_Site_p.Q205_splice|PIK3R1_uc003jve.2_Splice_Site_p.Q154_splice|PIK3R1_uc011crb.1_Splice_Site_p.Q145_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 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.D434_Q475del(1)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		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)	CACATCCCAGGTGAGTTTTCT	0.294			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			A	67589663	G	A	67589663	5	1	219	1	0	0	0	0	0	0	1	0	11918	1275	44	4	1594	4	PIK3R1	5	67589663	Splice_Site	SNP	G	TCGA-D7-8572-01A-11D-2340-08	26825036	67589663	113325597	48	113860											
RAD17	5884	broad.mit.edu	37	chr5	68692242	68692242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacacgctctttactcaggGaatatagcacatctatagct	7	10	3	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:68692242G>A	uc003jwo.2	+	13	1536	c.1474G>A	c.(1474-1476)GAA>AAA	p.E492K	RAD17_uc003jwg.2_Missense_Mutation_p.E481K|RAD17_uc003jwh.2_Missense_Mutation_p.E481K|RAD17_uc003jwi.2_Missense_Mutation_p.E481K|RAD17_uc003jwj.2_Missense_Mutation_p.E481K|RAD17_uc003jwk.2_Missense_Mutation_p.E481K|RAD17_uc003jwl.2_Missense_Mutation_p.E481K|RAD17_uc003jwm.2_Missense_Mutation_p.E316K|RAD17_uc003jwn.2_Missense_Mutation_p.E395K|RAD17_uc003jwp.2_Missense_Mutation_p.E52K	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	492	Interaction with MCM7.				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				0		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)		TTTACTCAGGGAATATAGCAC	0.383								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					A	68692242	G	A	68692242	3	1	219	1	0	0	0	0	1	0	0	0	12979	1175	41	4	1537	4	RAD17	5	68692242	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	1102579	68692242	112223018	49	113861											
ACOT12	134526	broad.mit.edu	37	chr5	80655815	80655815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccagattatgttccaCatgatcttgttcagttagaa	8	8	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:80655815C>T	uc003khl.3	-	5	458	c.403G>A	c.(403-405)GTG>ATG	p.V135M	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.V135M	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	135					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTATGTTCCACATGATCTTGT	0.323													T	80655815	C	T	80655815	3	4	219	1	0	0	0	0	1	0	0	0	150	478	17	4	1308	4	ACOT12	5	80655815	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	11963573	80655815	100259445	50	113862											
PKD2L2	27039	broad.mit.edu	37	chr5	137271538	137271538	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagaggcttgagaaaaAgtattattctatggaaattc	10	3	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:137271538A>T	uc003lby.2	+	13	1780	c.1724A>T	c.(1723-1725)AAG>ATG	p.K575M	PKD2L2_uc003lbw.1_Missense_Mutation_p.K575M|PKD2L2_uc003lbx.2_Missense_Mutation_p.K474M|PKD2L2_uc011cyi.1_Missense_Mutation_p.K183M	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	575	Cytoplasmic (Potential).|Potential.					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTGAGAAAAAGTATTATTCT	0.378													T	137271538	A	T	137271538	3	4	219	1	0	0	0	0	1	0	0	0	11968	72	3	5	1774	5	PKD2L2	5	137271538	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	56615723	137271538	43643722	51	113863											
PCDHA1	56147	broad.mit.edu	37	chr5	140167716	140167716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctatgaactgcagccggCagcaggcggcgcgcgcatcc	14	15	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:140167716C>A	uc003lhb.2	+	1	1841	c.1841C>A	c.(1840-1842)GCA>GAA	p.A614E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A614E	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	614	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCCGGCAGCAGGCGGC	0.677													A	140167716	C	A	140167716	3	1	219	1	0	0	0	0	1	0	0	0	11519	710	25	5	1843	5	PCDHA1	5	140167716	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	2896178	140167716	40747544	52	113864											
ARAP3	64411	broad.mit.edu	37	chr5	141053171	141053171	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcccctcccagcacccaCccctgaggggagagcttgtc	9	19	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:141053171C>A	uc003llm.2	-	5	980	c.902_splice	c.e5+1	p.G301_splice	ARAP3_uc011dbe.1_5'Flank|ARAP3_uc003lln.2_Splice_Site_p.G223_splice|ARAP3_uc003llo.1_Splice_Site_p.G301_splice	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH						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			breast(5)|ovary(1)|large_intestine(1)	7						CCAGCACCCACCCCTGAGGGG	0.622													A	141053171	C	A	141053171	5	1	219	1	0	0	0	0	0	0	1	0	840	521	18	5	3847	5	ARAP3	5	141053171	Splice_Site	SNP	C	TCGA-D7-8572-01A-11D-2340-08	885455	141053171	39862089	53	113865											
FAF2	23197	broad.mit.edu	37	chr5	175919208	175919208	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtttgctcttcgtTttatacggcctgaccctcgc	8	15	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr5:175919208T>G	uc003mej.3	+	5	411	c.358T>G	c.(358-360)TTT>GTT	p.F120V		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	120					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						TGCTCTTCGTTTTATACGGCC	0.473													G	175919208	T	G	175919208	3	3	219	1	0	0	0	0	1	0	0	0	5370	1841	64	5	376	5	FAF2	5	175919208	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	34866037	175919208	4996052	54	113866											
CAGE1	285782	broad.mit.edu	37	chr6	7373629	7373629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgggcctctttttcccGtttcaacaagtccaaagcag	7	12	3	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:7373629G>A	uc003mxi.2	-	4	1736	c.1015C>T	c.(1015-1017)CGG>TGG	p.R339W	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.R230W|CAGE1_uc003mxk.1_Missense_Mutation_p.R230W	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	475	Potential.										0	Ovarian(93;0.0418)					TCTTTTTCCCGTTTCAACAAG	0.403													A	7373629	G	A	7373629	3	1	219	1	0	0	0	0	1	0	0	0	2572	1144	40	1	1242	1	CAGE1	6	7373629	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		7373629	163741438	55	113867											
BMP6	654	broad.mit.edu	37	chr6	7880471	7880471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccaaaccgtgctgtgcGccaactaagctaaatgccat	8	14	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:7880471G>A	uc003mxu.3	+	7	1615	c.1437G>A	c.(1435-1437)GCG>GCA	p.A479A		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	479					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CGTGCTGTGCGCCAACTAAGC	0.448													A	7880471	G	A	7880471	2	1	219	1	0	0	0	0	0	0	0	1	1464	1074	38	1		1	BMP6	6	7880471	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	506842	7880471	163234596	56	113868											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27100904	27100904	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctaaggccaagactcgCtcttctagggccggtctcca	11	15	3	1	rs147278636		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:27100904C>G	uc003niw.2	+	1	88	c.54C>G	c.(52-54)CGC>CGG	p.R18R	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	18					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						CCAAGACTCGCTCTTCTAGGG	0.647													G	27100904	C	G	27100904	2	3	219	1	0	0	0	0	0	0	0	1	7133	784	28	5		5	HIST1H2AG	6	27100904	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	19220433	27100904	144014163	57	113869											
OR5V1	81696	broad.mit.edu	37	chr6	29323142	29323142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggggtaacaacactgtaCaacactgaaaccaacctatc	7	11	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:29323142C>A	uc011dlo.1	-	1	913	c.831G>T	c.(829-831)TTG>TTT	p.L277F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						CAACACTGTACAACACTGAAA	0.418													A	29323142	C	A	29323142	3	1	219	1	0	0	0	0	1	0	0	0	11184	477	17	5	137	5	OR5V1	6	29323142	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	2222238	29323142	141791925	58	113870											
DNAH8	1769	broad.mit.edu	37	chr6	38835970	38835970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatatgaacctttccaaaCtggtatcttctctgaattct	6	9	3	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:38835970C>A	uc003ooe.1	+	46	6775	c.6175C>A	c.(6175-6177)CTG>ATG	p.L2059M		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CCTTTCCAAACTGGTATCTTC	0.388													A	38835970	C	A	38835970	3	1	219	1	0	0	0	0	1	0	0	0	4607	564	20	5	6349	5	DNAH8	6	38835970	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	9512828	38835970	132279097	59	113871											
BAI3	577	broad.mit.edu	37	chr6	69348940	69348940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttttctacagtatgatAaaaattttattcaaatacgt	4	5	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:69348940A>G	uc003pev.3	+	3	821	c.373A>G	c.(373-375)AAA>GAA	p.K125E	BAI3_uc010kak.2_Missense_Mutation_p.K125E	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	125	CUB.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ACAGTATGATAAAAATTTTAT	0.289													G	69348940	A	G	69348940	3	3	219	1	0	0	0	0	1	0	0	0	1300	363	13	3	375	3	BAI3	6	69348940	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	30512970	69348940	101766127	60	113872											
RIMS1	22999	broad.mit.edu	37	chr6	72678732	72678732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgcaaaacaccaAgaaatgctgaaaaccagccc	7	14	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:72678732A>G	uc003pga.2	+	2	288	c.211A>G	c.(211-213)AGA>GGA	p.R71G		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	71	RabBD.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAAACACCAAGAAATGCTGA	0.453													G	72678732	A	G	72678732	3	3	219	1	0	0	0	0	1	0	0	0	13367	64	3	3	217	3	RIMS1	6	72678732	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	3329792	72678732	98436335	61	113873											
DDX43	55510	broad.mit.edu	37	chr6	74123758	74123758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agagtctctgcatggagataGagaacagagagatcgggaga	15	5	1	6	rs139170485		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:74123758G>C	uc003pgw.2	+	13	1906	c.1562G>C	c.(1561-1563)AGA>ACA	p.R521T		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	521	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						CATGGAGATAGAGAACAGAGA	0.363													C	74123758	G	C	74123758	3	2	219	1	0	0	0	0	1	0	0	0	4363	942	33	5	1612	5	DDX43	6	74123758	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	1445026	74123758	96991309	62	113874											
SLC17A5	26503	broad.mit.edu	37	chr6	74351547	74351547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattttcccccctattttgCtggcaacatatcctccagga	6	14	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:74351547C>T	uc003phn.3	-	3	520	c.392G>A	c.(391-393)AGC>AAC	p.S131N	SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Silent_p.Q29Q	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	131					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						CCCTATTTTGCTGGCAACATA	0.473													T	74351547	C	T	74351547	3	4	219	1	0	0	0	0	1	0	0	0	14420	797	28	2	1131	2	SLC17A5	6	74351547	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	227789	74351547	96763520	63	113875											
PGM3	5238	broad.mit.edu	37	chr6	83900610	83900610	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctaataatcccatgCgaaacatgacatgatcaaga	8	9	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:83900610C>G	uc003pjv.2	-	2	162	c.122G>C	c.(121-123)CGC>CCC	p.R41P	PGM3_uc003pjw.2_Intron|PGM3_uc011dyz.1_Missense_Mutation_p.R69P|RWDD2A_uc003pjx.3_5'Flank|RWDD2A_uc011dza.1_5'Flank	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	41					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TAATCCCATGCGAAACATGAC	0.458													G	83900610	C	G	83900610	3	3	219	1	0	0	0	0	1	0	0	0	11800	768	27	5	1554	5	PGM3	6	83900610	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	9549063	83900610	87214457	64	113876											
ASCC3	10973	broad.mit.edu	37	chr6	101094585	101094585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttccatcataacagaaGgaatctgatgaacacattgt	7	8	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:101094585G>A	uc003pqk.2	-	22	3868	c.3539C>T	c.(3538-3540)CCT>CTT	p.P1180L		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1180	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		CATAACAGAAGGAATCTGATG	0.403													A	101094585	G	A	101094585	3	1	219	1	0	0	0	0	1	0	0	0	1033	1000	35	4	3153	4	ASCC3	6	101094585	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	17193975	101094585	70020482	65	113877											
QRSL1	55278	broad.mit.edu	37	chr6	107100220	107100220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcgatggatgtgccaggaAtcttaaccagatgtgtggat	12	6	1	1	rs144191952		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:107100220A>G	uc003prm.2	+	6	810	c.694A>G	c.(694-696)ATC>GTC	p.I232V	QRSL1_uc003prl.2_Missense_Mutation_p.I232V	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	232					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	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)		TGTGCCAGGAATCTTAACCAG	0.413													G	107100220	A	G	107100220	3	3	219	1	0	0	0	0	1	0	0	0	12881	101	4	3	716	3	QRSL1	6	107100220	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	6005635	107100220	64014847	66	113878											
SEC63	11231	broad.mit.edu	37	chr6	108234618	108234618	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcccaatttttccgggactCttcatccgttaaactagcat	5	12	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:108234618C>T	uc003psc.3	-	5	735	c.466G>A	c.(466-468)GAG>AAG	p.E156K	SEC63_uc003psb.3_Missense_Mutation_p.E16K	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	156	J.|Lumenal (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		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)		TTCCGGGACTCTTCATCCGTT	0.343													T	108234618	C	T	108234618	3	4	219	1	0	0	0	0	1	0	0	0	14005	922	32	4	1884	4	SEC63	6	108234618	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	1134398	108234618	62880449	67	113879											
TUBE1	51175	broad.mit.edu	37	chr6	112393234	112393234	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggaacacaggctggtcttCcagccttcttgattccagga	10	12	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:112393234C>T	uc003pvq.2	-	11	1254	c.1140G>A	c.(1138-1140)TGG>TGA	p.W380*	TUBE1_uc003pvr.2_Nonsense_Mutation_p.W305*	NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	380					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		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)		GGCTGGTCTTCCAGCCTTCTT	0.398													T	112393234	C	T	112393234	4	4	219	1	0	0	0	0	0	1	0	0	16760	856	30	4	295	4	TUBE1	6	112393234	Nonsense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	4158616	112393234	58721833	68	113880											
SERINC1	57515	broad.mit.edu	37	chr6	122766247	122766247	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgtccaaacatacagcAcgatgccaatccaactggaa	8	12	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr6:122766247A>T	uc003pyy.1	-	10	1374	c.1304T>A	c.(1303-1305)GTG>GAG	p.V435E	SERINC1_uc003pyx.1_RNA	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	435	Helical; (Potential).				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			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		AACATACAGCACGATGCCAAT	0.413													T	122766247	A	T	122766247	3	4	219	1	0	0	0	0	1	0	0	0	14079	159	6	5	61	5	SERINC1	6	122766247	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	10373013	122766247	48348820	69	113881											
HDAC9	9734	broad.mit.edu	37	chr7	18631206	18631206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtaaatcagcaacgaaAgacactccaactaatggaaa	7	9	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:18631206A>C	uc003suh.2	+	4	515	c.474A>C	c.(472-474)AAA>AAC	p.K158N	HDAC9_uc003sue.2_Missense_Mutation_p.K158N|HDAC9_uc011jyd.1_Missense_Mutation_p.K158N|HDAC9_uc003sui.2_Missense_Mutation_p.K161N|HDAC9_uc003suj.2_Missense_Mutation_p.K161N|HDAC9_uc011jya.1_Missense_Mutation_p.K199N|HDAC9_uc003sua.1_Missense_Mutation_p.K180N|HDAC9_uc011jyb.1_Missense_Mutation_p.K158N|HDAC9_uc003sud.1_Missense_Mutation_p.K158N|HDAC9_uc011jyc.1_Missense_Mutation_p.K161N|HDAC9_uc003suf.1_Missense_Mutation_p.K189N|HDAC9_uc010kud.1_Missense_Mutation_p.K161N|HDAC9_uc011jye.1_Missense_Mutation_p.K130N|HDAC9_uc011jyf.1_Missense_Mutation_p.K127N|HDAC9_uc010kue.1_5'UTR	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	158					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|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			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCAACGAAAGACACTCCAA	0.383													C	18631206	A	C	18631206	3	2	219	1	0	0	0	0	1	0	0	0	7014	69	3	5	497	5	HDAC9	7	18631206	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08		18631206	140507457	70	113882											
WBSCR17	64409	broad.mit.edu	37	chr7	71036364	71036364	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcatggatgtatacggaggaGaaaatattgaactgggaatc	13	4	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:71036364G>C	uc003tvy.2	+	6	1057	c.1057G>C	c.(1057-1059)GAA>CAA	p.E353Q	WBSCR17_uc003tvz.2_Missense_Mutation_p.E52Q	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	353	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATACGGAGGAGAAAATATTGA	0.507													C	71036364	G	C	71036364	3	2	219	1	0	0	0	0	1	0	0	0	17261	943	33	5	1079	5	WBSCR17	7	71036364	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	52405158	71036364	88102299	71	113883											
MAGI2	9863	broad.mit.edu	37	chr7	77797390	77797390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcggccatctctgtcGgctgagcccatggcaatgac	13	12	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:77797390G>A	uc003ugx.2	-	15	2693	c.2439C>T	c.(2437-2439)GCC>GCT	p.A813A	MAGI2_uc003ugy.2_Silent_p.A799A|MAGI2_uc010ldx.1_Silent_p.A406A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	813	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CATCTCTGTCGGCTGAGCCCA	0.453													A	77797390	G	A	77797390	2	1	219	1	0	0	0	0	0	0	0	1	9191	1103	39	1		1	MAGI2	7	77797390	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	6761026	77797390	81341273	72	113884											
SEMA3E	9723	broad.mit.edu	37	chr7	82997332	82997332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaccaaggtccatcttaAccactctgtcatctgtcttc	5	13	5	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:82997332A>G	uc003uhy.1	-	17	2364	c.1898T>C	c.(1897-1899)GTT>GCT	p.V633A		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	633	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GTCCATCTTAACCACTCTGTC	0.418													G	82997332	A	G	82997332	3	3	219	1	0	0	0	0	1	0	0	0	14028	43	2	3	433	3	SEMA3E	7	82997332	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	5199942	82997332	76141331	73	113885											
CYP51A1	1595	broad.mit.edu	37	chr7	91743061	91743061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aattcacagtgggaaagtatCcatcaatgagatcaaattca	7	7	4	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:91743061C>A	uc003ulm.3	-	10	1610	c.1448G>T	c.(1447-1449)GGA>GTA	p.G483V	CYP51A1_uc011khn.1_Missense_Mutation_p.G378V|CYP51A1_uc003uln.3_Missense_Mutation_p.G420V	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	477					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	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)	GGGAAAGTATCCATCAATGAG	0.368													A	91743061	C	A	91743061	3	1	219	1	0	0	0	0	1	0	0	0	4195	855	30	5	85	5	CYP51A1	7	91743061	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	8745729	91743061	67395602	74	113886											
FLNC	2318	broad.mit.edu	37	chr7	128478750	128478750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacaagggtgacagcaCgttccgctgcacatacagac	13	11	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:128478750C>T	uc003vnz.3	+	8	1513	c.1304C>T	c.(1303-1305)ACG>ATG	p.T435M	FLNC_uc003voa.3_Missense_Mutation_p.T435M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	435	Filamin 2.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGTGACAGCACGTTCCGCTGC	0.657													T	128478750	C	T	128478750	3	4	219	1	0	0	0	0	1	0	0	0	5935	536	19	1	1334	1	FLNC	7	128478750	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	36735689	128478750	30659913	75	113887											
TRIM24	8805	broad.mit.edu	37	chr7	138265374	138265374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaatatgattgtgatgctCccagtcacaactcagaaaaa	7	8	2	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:138265374C>T	uc003vuc.2	+	16	2868	c.2653C>T	c.(2653-2655)CCC>TCC	p.P885S	TRIM24_uc003vub.2_Missense_Mutation_p.P851S	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	885					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			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						TTGTGATGCTCCCAGTCACAA	0.368													T	138265374	C	T	138265374	3	4	219	1	0	0	0	0	1	0	0	0	16495	855	30	4	2715	4	TRIM24	7	138265374	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	9786624	138265374	20873289	76	113888											
MKRN1	23608	broad.mit.edu	37	chr7	140171773	140171773	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcatgcgagtagcgaCagttgtctccttccttacaa	10	10	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:140171773C>G	uc003vvt.2	-	2	449	c.224G>C	c.(223-225)TGT>TCT	p.C75S	MKRN1_uc003vvs.2_Missense_Mutation_p.C11S|MKRN1_uc011krd.1_5'UTR|MKRN1_uc003vvv.3_Missense_Mutation_p.C75S|MKRN1_uc003vvu.3_Missense_Mutation_p.C11S	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	75	C3H1-type 1.						ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					CGAGTAGCGACAGTTGTCTCC	0.403													G	140171773	C	G	140171773	3	3	219	1	0	0	0	0	1	0	0	0	9606	478	17	5	1256	5	MKRN1	7	140171773	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	1906399	140171773	18966890	77	113889											
CNTNAP2	26047	broad.mit.edu	37	chr7	146471365	146471365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcttttgttttcagaaAaatgtgatgagccacttgtc	8	7	3	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr7:146471365A>G	uc003weu.1	+	2	616	c.100A>G	c.(100-102)AAA>GAA	p.K34E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	34	Extracellular (Potential).				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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			GTTTTCAGAAAAATGTGATGA	0.428										HNSCC(39;0.1)			G	146471365	A	G	146471365	3	3	219	1	0	0	0	0	1	0	0	0	3647	15	1	3	106	3	CNTNAP2	7	146471365	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	6299592	146471365	12667298	78	113890											
SGK223	157285	broad.mit.edu	37	chr8	8185863	8185863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgggggagtggagggGgctgctgggggccactgggg	23	6	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:8185863G>A	uc003wsh.3	-	4	2429	c.2429C>T	c.(2428-2430)CCC>CTC	p.P810L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	810							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GAGTGGAGGGGGCTGCTGGGG	0.637													A	8185863	G	A	8185863	3	1	219	1	0	0	0	0	1	0	0	0	14210	1232	43	4	1787	4	SGK223	8	8185863	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		8185863	138178159	79	113891											
ESCO2	157570	broad.mit.edu	37	chr8	27634042	27634042	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagactgccatcagcaaatCaaggctcaccatttaaatct	5	11	4	1	rs141222001		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:27634042C>T	uc003xgg.2	+	3	300	c.217C>T	c.(217-219)CAA>TAA	p.Q73*	ESCO2_uc010luy.1_RNA|ESCO2_uc003xgh.2_Nonsense_Mutation_p.Q73*	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	73					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		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)		ATCAGCAAATCAAGGCTCACC	0.378									SC_Phocomelia_syndrome				T	27634042	C	T	27634042	4	4	219	1	0	0	0	0	0	1	0	0	5249	827	29	4	223	4	ESCO2	8	27634042	Nonsense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	19448179	27634042	118729980	80	113892											
ADAM9	8754	broad.mit.edu	37	chr8	38874807	38874807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagctctcattttgagcaCatcatttatcgaatggatga	7	8	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:38874807C>T	uc003xmr.2	+	6	558	c.480C>T	c.(478-480)CAC>CAT	p.H160H	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	160	Extracellular (Potential).				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|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|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			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATTTTGAGCACATCATTTATC	0.398													T	38874807	C	T	38874807	2	4	219	1	0	0	0	0	0	0	0	1	253	477	17	4		4	ADAM9	8	38874807	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	11240765	38874807	107489215	81	113893											
MYST3	7994	broad.mit.edu	37	chr8	41798853	41798853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactatcatgaggaaggactTgtttgctcaaacgtgtagaa	11	6	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:41798853T>C	uc010lxb.2	-	16	3090	c.2546A>G	c.(2545-2547)CAA>CGA	p.Q849R	MYST3_uc010lxc.2_Missense_Mutation_p.Q849R|MYST3_uc003xon.3_Missense_Mutation_p.Q849R	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	849					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AGGAAGGACTTGTTTGCTCAA	0.443													C	41798853	T	C	41798853	3	2	219	1	0	0	0	0	1	0	0	0	10104	1812	63	3	3480	3	MYST3	8	41798853	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	2924046	41798853	104565169	82	113894											
KCNB2	9312	broad.mit.edu	37	chr8	73849089	73849089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggccaggaaggctctgtCggaaacaagctccaacaagt	13	10	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:73849089C>T	uc003xzb.2	+	3	2087	c.1499C>T	c.(1498-1500)TCG>TTG	p.S500L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	500	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AAGGCTCTGTCGGAAACAAGC	0.557													T	73849089	C	T	73849089	3	4	219	1	0	0	0	0	1	0	0	0	8013	893	31	1	1505	1	KCNB2	8	73849089	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	32050236	73849089	72514933	83	113895											
STAU2	27067	broad.mit.edu	37	chr8	74526145	74526145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaactctcctactgacactCgagtaacaaagcttttcata	5	11	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:74526145C>A	uc003xzm.2	-	9	961	c.725G>T	c.(724-726)CGA>CTA	p.R242L	STAU2_uc011lfg.1_Missense_Mutation_p.R70L|STAU2_uc003xzn.2_Missense_Mutation_p.R210L|STAU2_uc011lfh.1_Missense_Mutation_p.R138L|STAU2_uc003xzo.2_Missense_Mutation_p.R242L|STAU2_uc003xzp.2_Missense_Mutation_p.R210L|STAU2_uc011lfi.1_Missense_Mutation_p.R204L|STAU2_uc003xzq.2_Missense_Mutation_p.R22L|STAU2_uc010lzk.2_Missense_Mutation_p.R210L|STAU2_uc010lzl.1_Missense_Mutation_p.R70L	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	242	DRBM 3.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TACTGACACTCGAGTAACAAA	0.378													A	74526145	C	A	74526145	3	1	219	1	0	0	0	0	1	0	0	0	15272	884	31	5	1139	5	STAU2	8	74526145	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	677056	74526145	71837877	84	113896											
ZFHX4	79776	broad.mit.edu	37	chr8	77690554	77690554	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggtacaacatgtccgttcGgtgaagcatcagcagactga	11	10	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:77690554G>C	uc003yav.2	+	4	3513	c.3126G>C	c.(3124-3126)TCG>TCC	p.S1042S	ZFHX4_uc003yau.1_Silent_p.S1068S|ZFHX4_uc003yaw.1_Silent_p.S1042S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1042	C2H2-type 7.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGTCCGTTCGGTGAAGCATC	0.512										HNSCC(33;0.089)			C	77690554	G	C	77690554	2	2	219	1	0	0	0	0	0	0	0	1	17632	1103	39	5		5	ZFHX4	8	77690554	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	3164409	77690554	68673468	85	113897											
CSMD3	114788	broad.mit.edu	37	chr8	113318256	113318256	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacacagcgaggggtcttgTtatgattgctccatgttcca	10	10	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:113318256T>A	uc003ynu.2	-	51	8210	c.8051A>T	c.(8050-8052)AAC>ATC	p.N2684I	CSMD3_uc003yns.2_Missense_Mutation_p.N1886I|CSMD3_uc003ynt.2_Missense_Mutation_p.N2644I|CSMD3_uc011lhx.1_Missense_Mutation_p.N2580I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2684	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGGGTCTTGTTATGATTGCT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113318256	T	A	113318256	3	1	219	1	0	0	0	0	1	0	0	0	3946	1725	60	5	3156	5	CSMD3	8	113318256	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	35627702	113318256	33045766	86	113898											
CSMD3	114788	broad.mit.edu	37	chr8	113348959	113348959	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccattcccagggggtactCttacaagccaaaaacaatct	7	12	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr8:113348959C>A	uc003ynu.2	-	44	7100	c.6941G>T	c.(6940-6942)AGA>ATA	p.R2314I	CSMD3_uc003yns.2_Missense_Mutation_p.R1516I|CSMD3_uc003ynt.2_Missense_Mutation_p.R2274I|CSMD3_uc011lhx.1_Missense_Mutation_p.R2210I|CSMD3_uc003ynw.1_Missense_Mutation_p.R25I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2314	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGGGGTACTCTTACAAGCCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113348959	C	A	113348959	3	1	219	1	0	0	0	0	1	0	0	0	3946	913	32	5	4294	5	CSMD3	8	113348959	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	30703	113348959	33015063	87	113899											
JAK2	3717	broad.mit.edu	37	chr9	5069141	5069141	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatcttttgaattgttaccaGatggaaactgttcgctcaga	9	7	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr9:5069141G>A	uc010mhm.2	+	10	1559	c.1446G>A	c.(1444-1446)CAG>CAA	p.Q482Q	JAK2_uc003ziw.2_Silent_p.Q482Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	482	SH2; atypical.				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		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	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)		ATTGTTACCAGATGGAAACTG	0.323		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5069141	G	A	5069141	2	1	219	1	0	0	0	0	0	0	0	1	7938	933	33	4		4	JAK2	9	5069141	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08		5069141	136144290	88	113900											
IFNA10	3446	broad.mit.edu	37	chr9	21206570	21206570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgcaagtttgttgaaaacGagagggatctcatgatttct	10	5	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr9:21206570G>A	uc003zoq.1	-	1	573	c.527C>T	c.(526-528)TCG>TTG	p.S176L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	176					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				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TGTTGAAAACGAGAGGGATCT	0.388													A	21206570	G	A	21206570	3	1	219	1	0	0	0	0	1	0	0	0	7532	1059	37	1	46	1	IFNA10	9	21206570	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	16137429	21206570	120006861	89	113901											
IFNA6	3443	broad.mit.edu	37	chr9	21350353	21350353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctttcttgcaagtttctTgatgaagagaaggatctcat	8	7	3	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr9:21350353T>C	uc011lni.1	-	1	534	c.534A>G	c.(532-534)TCA>TCG	p.S178S		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	178					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				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GCAAGTTTCTTGATGAAGAGA	0.438													C	21350353	T	C	21350353	2	2	219	1	0	0	0	0	0	0	0	1	7541	1799	63	3		3	IFNA6	9	21350353	Silent	SNP	T	TCGA-D7-8572-01A-11D-2340-08	143783	21350353	119863078	90	113902											
HNRNPK	3190	broad.mit.edu	37	chr9	86585140	86585140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtaatggtaatgatcCgatcttcggatccttctaaa	7	9	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr9:86585140C>T	uc004ang.3	-	16	1522	c.1298G>A	c.(1297-1299)CGG>CAG	p.R433Q	HNRNPK_uc011lsw.1_Missense_Mutation_p.R193Q|HNRNPK_uc004and.3_Missense_Mutation_p.R193Q|HNRNPK_uc004ank.3_Missense_Mutation_p.R432Q|HNRNPK_uc004anf.3_Missense_Mutation_p.R433Q|HNRNPK_uc004anh.3_Missense_Mutation_p.R409Q|HNRNPK_uc011lsx.1_Missense_Mutation_p.R409Q|HNRNPK_uc004ani.3_Missense_Mutation_p.R432Q|HNRNPK_uc004anj.3_Missense_Mutation_p.R432Q|HNRNPK_uc004ann.3_Missense_Mutation_p.R408Q|HNRNPK_uc004anl.3_Missense_Mutation_p.R433Q|HNRNPK_uc004anm.3_Missense_Mutation_p.R433Q|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	433	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			skin(1)	1						GGTAATGATCCGATCTTCGGA	0.413													T	86585140	C	T	86585140	3	4	219	1	0	0	0	0	1	0	0	0	7269	652	23	1	139	1	HNRNPK	9	86585140	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	65234787	86585140	54628291	91	113903											
ZNF79	7633	broad.mit.edu	37	chr9	130206660	130206660	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgagtgcagtgaatgtggGaaggccttcagccagagctc	14	8	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr9:130206660G>A	uc004bqw.3	+	5	1095	c.681G>A	c.(679-681)GGG>GGA	p.G227G	ZNF79_uc011maf.1_Silent_p.G203G|ZNF79_uc011mag.1_Silent_p.G203G	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	227	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						GTGAATGTGGGAAGGCCTTCA	0.493													A	130206660	G	A	130206660	2	1	219	1	0	0	0	0	0	0	0	1	18158	1161	41	4		4	ZNF79	9	130206660	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	43621520	130206660	11006771	92	113904											
BAT2L1	84726	broad.mit.edu	37	chr9	134321941	134321941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaaggacccctctctccGcccggctcagcctgtccgaa	8	18	3	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr9:134321941G>A	uc004can.3	+	6	822	c.767G>A	c.(766-768)CGC>CAC	p.R256H	BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Missense_Mutation_p.R256H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	256							protein binding				0						CCCTCTCTCCGCCCGGCTCAG	0.562													A	134321941	G	A	134321941	3	1	219	1	0	0	0	0	1	0	0	0	1320	1087	38	1	789	1	BAT2L1	9	134321941	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	4115281	134321941	6891490	93	113905											
PCDH15	65217	broad.mit.edu	37	chr10	55581798	55581798	+	Silent	SNP	T	T	G													atttgactgtacatgttagcTactgatttttcaagttctgc							TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr10:55581798T>G	uc001jju.1	-	33	6083	c.5688A>C	c.(5686-5688)GTA>GTC	p.V1896V	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Silent_p.V750V|PCDH15_uc010qhv.1_Silent_p.V1893V|PCDH15_uc010qhw.1_Silent_p.V1856V|PCDH15_uc010qhx.1_Silent_p.V1827V|PCDH15_uc010qhy.1_Silent_p.V1903V|PCDH15_uc010qhz.1_Silent_p.V1898V|PCDH15_uc010qia.1_Silent_p.V1876V|PCDH15_uc010qib.1_Silent_p.V1873V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1896	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATGTTAGCTACTGATTTTT	0.368										HNSCC(58;0.16)			G	55581798	T	G	55581798	2	3	219	1	0	0	0	0	0	0	0	1	11511	1509	53	5		5	PCDH15	10	55581798	Silent	SNP	T	TCGA-D7-8572-01A-11D-2340-08		55581798	79952949	94	113906	538	2									
PCDH15	65217	broad.mit.edu	37	chr10	55581808	55581808	+	Missense_Mutation	SNP	T	T	C													acatgttagctactgattttTcaagttctgctaagttttta							TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr10:55581808T>C	uc001jju.1	-	33	6073	c.5678A>G	c.(5677-5679)GAA>GGA	p.E1893G	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E747G|PCDH15_uc010qhv.1_Missense_Mutation_p.E1890G|PCDH15_uc010qhw.1_Missense_Mutation_p.E1853G|PCDH15_uc010qhx.1_Missense_Mutation_p.E1824G|PCDH15_uc010qhy.1_Missense_Mutation_p.E1900G|PCDH15_uc010qhz.1_Missense_Mutation_p.E1895G|PCDH15_uc010qia.1_Missense_Mutation_p.E1873G|PCDH15_uc010qib.1_Missense_Mutation_p.E1870G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1893	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TACTGATTTTTCAAGTTCTGC	0.373										HNSCC(58;0.16)			C	55581808	T	C	55581808	3	2	219	1	0	0	0	0	1	0	0	0	11511	1783	62	3	1799	3	PCDH15	10	55581808	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	10	55581808	79952939	95	113907	538	2									
ANK3	288	broad.mit.edu	37	chr10	61894095	61894095	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtgcataggagcttctgttCaaggtgtaagacctatccga	11	9	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr10:61894095C>A	uc001jky.2	-	25	2967	c.2775G>T	c.(2773-2775)TTG>TTT	p.L925F	ANK3_uc001jkw.2_Missense_Mutation_p.L59F|ANK3_uc009xpa.2_Missense_Mutation_p.L59F|ANK3_uc001jkx.2_Missense_Mutation_p.L103F|ANK3_uc010qih.1_Missense_Mutation_p.L926F|ANK3_uc001jkz.3_Missense_Mutation_p.L919F|ANK3_uc001jla.1_5'UTR|ANK3_uc001jlb.1_Missense_Mutation_p.L432F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	925					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AGCTTCTGTTCAAGGTGTAAG	0.403													A	61894095	C	A	61894095	3	1	219	1	0	0	0	0	1	0	0	0	622	825	29	5	10747	5	ANK3	10	61894095	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	6312287	61894095	73640652	96	113908											
TET1	80312	broad.mit.edu	37	chr10	70450738	70450738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agactgcttcagccacaccaGctccactgaagaatgacgca	8	14	1	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr10:70450738G>C	uc001jok.3	+	12	6083	c.5578G>C	c.(5578-5580)GCT>CCT	p.A1860P		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1860					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AGCCACACCAGCTCCACTGAA	0.542													C	70450738	G	C	70450738	3	2	219	1	0	0	0	0	1	0	0	0	15766	971	34	5	5620	5	TET1	10	70450738	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	8556643	70450738	65084009	97	113909											
HELLS	3070	broad.mit.edu	37	chr10	96354483	96354483	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggatcttcaggcccaggataGatgtcatagaattggtcaga	12	7	4	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr10:96354483G>A	uc001kjt.2	+	19	2225	c.2120G>A	c.(2119-2121)AGA>AAA	p.R707K	HELLS_uc001kjs.2_Missense_Mutation_p.R691K|HELLS_uc009xul.2_Missense_Mutation_p.R609K|HELLS_uc009xum.2_Missense_Mutation_p.R577K|HELLS_uc009xun.2_Missense_Mutation_p.R583K|HELLS_uc009xuo.2_Missense_Mutation_p.R753K|HELLS_uc001kju.2_Missense_Mutation_p.R346K|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R569K|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	707	Helicase C-terminal.				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			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GCCCAGGATAGATGTCATAGA	0.358													A	96354483	G	A	96354483	3	1	219	1	0	0	0	0	1	0	0	0	7046	942	33	4	2194	4	HELLS	10	96354483	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	25903745	96354483	39180264	98	113910											
DHDPSL	112817	broad.mit.edu	37	chr10	99371384	99371384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgaggaggaggcactgCgcatggatttcaccagcaac	13	12	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr10:99371384C>T	uc001kny.2	+	7	1311	c.952C>T	c.(952-954)CGC>TGC	p.R318C	DHDPSL_uc001knz.2_Missense_Mutation_p.R155C|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	318					glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0						GGAGGCACTGCGCATGGATTT	0.632													T	99371384	C	T	99371384	3	4	219	1	0	0	0	0	1	0	0	0	4480	768	27	1	978	1	DHDPSL	10	99371384	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3016901	99371384	36163363	99	113911											
OR6A2	8590	broad.mit.edu	37	chr11	6816802	6816802	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggttcctaattgccataatGatgagtgtgttctcagtcag	10	7	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:6816802G>T	uc001mes.1	-	1	338	c.138C>A	c.(136-138)ATC>ATA	p.I46I		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGCCATAATGATGAGTGTGT	0.458													T	6816802	G	T	6816802	2	4	219	1	0	0	0	0	0	0	0	1	11186	1280	45	5		5	OR6A2	11	6816802	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08		6816802	128189714	100	113912											
HIPK3	10114	broad.mit.edu	37	chr11	33375082	33375082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atactggatttccactgagtCcaacaaaactcagccagtat	6	11	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:33375082C>A	uc001mul.1	+	17	3886	c.3616C>A	c.(3616-3618)CCA>ACA	p.P1206T	HIPK3_uc001mum.1_Missense_Mutation_p.P1185T|HIPK3_uc009yjv.1_Missense_Mutation_p.P1185T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	1206					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TCCACTGAGTCCAACAAAACT	0.363													A	33375082	C	A	33375082	3	1	219	1	0	0	0	0	1	0	0	0	7118	855	30	5	3678	5	HIPK3	11	33375082	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	26558280	33375082	101631434	101	113913											
F2	2147	broad.mit.edu	37	chr11	46750965	46750965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacaaggggcgggtgacagGctggggcaacctgaaggaga	18	7	0	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:46750965G>C	uc001ndf.3	+	12	1551	c.1508G>C	c.(1507-1509)GGC>GCC	p.G503A	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	503	Peptidase S1.				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			ovary(3)	3		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)	CGGGTGACAGGCTGGGGCAAC	0.647													C	46750965	G	C	46750965	3	2	219	1	0	0	0	0	1	0	0	0	5342	1203	42	5	1554	5	F2	11	46750965	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	13375883	46750965	88255551	102	113914											
LRP4	4038	broad.mit.edu	37	chr11	46912013	46912013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaggcctcaatacggGgggtgttgccccagtctgtc	15	11	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:46912013G>A	uc001ndn.3	-	14	1876	c.1730C>T	c.(1729-1731)CCC>CTC	p.P577L		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	577	Extracellular (Potential).|LDL-receptor class B 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CTCAATACGGGGGGTGTTGCC	0.537											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46912013	G	A	46912013	3	1	219	1	0	0	0	0	1	0	0	0	8959	1232	43	4	4087	4	LRP4	11	46912013	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	161048	46912013	88094503	103	113915											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57080878	57080878	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gactggagcacaccttcagaGaatcggcgctgaaccaggct	12	12	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:57080878G>A	uc001njr.2	-	4	1596	c.1284C>T	c.(1282-1284)TTC>TTT	p.F428F	TNKS1BP1_uc001njs.2_Silent_p.F428F|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	428	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				CACCTTCAGAGAATCGGCGCT	0.657													A	57080878	G	A	57080878	2	1	219	1	0	0	0	0	0	0	0	1	16317	933	33	4		4	TNKS1BP1	11	57080878	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	10168865	57080878	77925638	104	113916											
IGHMBP2	3508	broad.mit.edu	37	chr11	68679026	68679026	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cctggcactgggaaaaccacGactgtggttgagatcattct	11	10	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:68679026G>C	uc001ook.1	+	5	768	c.666G>C	c.(664-666)ACG>ACC	p.T222T	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	222					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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAAAACCACGACTGTGGTTG	0.527													C	68679026	G	C	68679026	2	2	219	1	0	0	0	0	0	0	0	1	7591	1045	37	5		5	IGHMBP2	11	68679026	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	11598148	68679026	66327490	105	113917											
C11orf30	56946	broad.mit.edu	37	chr11	76255390	76255390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagatggacactttagacCctcagacaggtctgttttac	9	9	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:76255390C>T	uc001oxl.2	+	19	2940	c.2797C>T	c.(2797-2799)CCT>TCT	p.P933S	C11orf30_uc001oxm.2_Missense_Mutation_p.P835S|C11orf30_uc010rsb.1_Missense_Mutation_p.P948S|C11orf30_uc010rsc.1_Missense_Mutation_p.P934S|C11orf30_uc001oxn.2_Missense_Mutation_p.P934S|C11orf30_uc010rsd.1_Missense_Mutation_p.P842S|C11orf30_uc001oxo.1_Missense_Mutation_p.P287S|C11orf30_uc010rse.1_Missense_Mutation_p.P180S|C11orf30_uc001oxp.2_Missense_Mutation_p.P33S	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	933					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						CACTTTAGACCCTCAGACAGG	0.493													T	76255390	C	T	76255390	3	4	219	1	0	0	0	0	1	0	0	0	1636	623	22	4	2867	4	C11orf30	11	76255390	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	7576364	76255390	58751126	106	113918											
FAT3	120114	broad.mit.edu	37	chr11	92087849	92087849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcaagtggaagccagagaCaaagacttaggttctaatgg	11	6	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:92087849C>A	uc001pdj.3	+	1	2588	c.2571C>A	c.(2569-2571)GAC>GAA	p.D857E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	857	Cadherin 8.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGCCAGAGACAAAGACTTAG	0.398										TCGA Ovarian(4;0.039)			A	92087849	C	A	92087849	3	1	219	1	0	0	0	0	1	0	0	0	5691	477	17	5	2573	5	FAT3	11	92087849	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	15832459	92087849	42918667	107	113919											
CNTN5	53942	broad.mit.edu	37	chr11	99690317	99690317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctccacttcatatgctgCtttgttaagaattaagaaga	6	8	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:99690317C>A	uc001pga.2	+	4	437	c.98C>A	c.(97-99)GCT>GAT	p.A33D	CNTN5_uc009ywv.1_Missense_Mutation_p.A33D|CNTN5_uc001pfz.2_Missense_Mutation_p.A33D|CNTN5_uc001pgb.2_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	33					cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		TCATATGCTGCTTTGTTAAGA	0.348													A	99690317	C	A	99690317	3	1	219	1	0	0	0	0	1	0	0	0	3644	797	28	5	104	5	CNTN5	11	99690317	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	7602468	99690317	35316199	108	113920											
GRIA4	2893	broad.mit.edu	37	chr11	105850358	105850358	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatccatcactgggagtgtGggagagaatggccgcgtctt	14	8	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:105850358G>C	uc001pix.2	+	17	3047	c.2601G>C	c.(2599-2601)GTG>GTC	p.V867V	GRIA4_uc001piw.2_3'UTR|GRIA4_uc009yxl.1_RNA	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	867	Cytoplasmic (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	CTGGGAGTGTGGGAGAGAATG	0.507													C	105850358	G	C	105850358	2	2	219	1	0	0	0	0	0	0	0	1	6770	1335	47	5		5	GRIA4	11	105850358	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	6160041	105850358	29156158	109	113921											
CUL5	8065	broad.mit.edu	37	chr11	107965145	107965145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgccagcggattatgtaAacaagcttgctagaatgttt	10	6	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:107965145A>G	uc001pjv.2	+	14	2138	c.1471A>G	c.(1471-1473)AAC>GAC	p.N491D	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	491					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			ovary(1)	1		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)		GGATTATGTAAACAAGCTTGC	0.299													G	107965145	A	G	107965145	3	3	219	1	0	0	0	0	1	0	0	0	4059	14	1	3	1525	3	CUL5	11	107965145	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	2114787	107965145	27041371	110	113922											
BUD13	84811	broad.mit.edu	37	chr11	116619288	116619288	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcttctgttcaaatccattGgatctgcaatcaaaagagac	7	10	4	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:116619288G>C	uc001ppn.2	-	10	1804	c.1770C>G	c.(1768-1770)TCC>TCG	p.S590S	BUD13_uc001ppo.2_Silent_p.S456S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	590										large_intestine(1)|pancreas(1)	2	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)		CAAATCCATTGGATCTGCAAT	0.433													C	116619288	G	C	116619288	2	2	219	1	0	0	0	0	0	0	0	1	1573	1335	47	5		5	BUD13	11	116619288	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	8654143	116619288	18387228	111	113923											
ARHGEF12	23365	broad.mit.edu	37	chr11	120352120	120352120	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcagaatactcactcCgatggggcaatttcaccatt	6	13	4	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:120352120C>A	uc001pxl.1	+	39	4396	c.4389C>A	c.(4387-4389)TCC>TCA	p.S1463S	ARHGEF12_uc009zau.1_Silent_p.S1360S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1463					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			lung(2)|breast(2)|skin(2)|ovary(1)	7		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)		ATACTCACTCCGATGGGGCAA	0.537			T	MLL	AML								A	120352120	C	A	120352120	2	1	219	1	0	0	0	0	0	0	0	1	897	639	23	5		5	ARHGEF12	11	120352120	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3732832	120352120	14654396	112	113924											
OR8B3	390271	broad.mit.edu	37	chr11	124266663	124266663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgagaacaaccacctcGttgacataggtgctggtgca	10	10	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:124266663G>A	uc010saj.1	-	1	585	c.585C>T	c.(583-585)AAC>AAT	p.N195N	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		CAACCACCTCGTTGACATAGG	0.428													A	124266663	G	A	124266663	2	1	219	1	0	0	0	0	0	0	0	1	11228	1136	40	1		1	OR8B3	11	124266663	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	3914543	124266663	10739853	113	113925											
GLB1L2	89944	broad.mit.edu	37	chr11	134238567	134238567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaccgtgtctgccattgtgGacgccggctcctccatcaac	9	15	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr11:134238567G>A	uc001qhp.2	+	10	1107	c.919G>A	c.(919-921)GAC>AAC	p.D307N	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	307					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		TGCCATTGTGGACGCCGGCTC	0.527													A	134238567	G	A	134238567	3	1	219	1	0	0	0	0	1	0	0	0	6429	1174	41	4	957	4	GLB1L2	11	134238567	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	9971904	134238567	767949	114	113926											
KCNA5	3741	broad.mit.edu	37	chr12	5154411	5154411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcgatgtggtggccatcttCccctacttcatcaccctggg	9	14	3	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:5154411C>A	uc001qni.2	+	1	1327	c.1098C>A	c.(1096-1098)TTC>TTA	p.F366L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	366	Helical; Name=Segment S3; (Potential).					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TGGCCATCTTCCCCTACTTCA	0.622													A	5154411	C	A	5154411	3	1	219	1	0	0	0	0	1	0	0	0	8006	854	30	5	1100	5	KCNA5	12	5154411	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08		5154411	128697484	115	113927											
LOH12CR1	118426	broad.mit.edu	37	chr12	12588569	12588569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctcctttgaagggctattGagtggccagacttccccaac	9	12	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:12588569G>C	uc001ral.2	+	3	576	c.210G>C	c.(208-210)TTG>TTC	p.L70F	LOH12CR1_uc009zhu.2_Missense_Mutation_p.L22F	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	70										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AAGGGCTATTGAGTGGCCAGA	0.403													C	12588569	G	C	12588569	3	2	219	1	0	0	0	0	1	0	0	0	8891	1281	45	5	220	5	LOH12CR1	12	12588569	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	7434158	12588569	121263326	116	113928											
GPRC5A	9052	broad.mit.edu	37	chr12	13061936	13061936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctccgccttggctgcCaatggctgggtgttcctgtt	12	13	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:13061936C>T	uc001rba.2	+	2	1403	c.753C>T	c.(751-753)GCC>GCT	p.A251A	GPRC5A_uc001raz.2_Silent_p.A251A	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5,	251	Helical; Name=7; (Potential).					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCTTGGCTGCCAATGGCTGGG	0.537													T	13061936	C	T	13061936	2	4	219	1	0	0	0	0	0	0	0	1	6724	581	21	4		4	GPRC5A	12	13061936	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	473367	13061936	120789959	117	113929											
CASC1	55259	broad.mit.edu	37	chr12	25263069	25263069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatatcataccttaaataCgacttttgtagaattacata	3	7	1	1	rs150985883		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:25263069C>T	uc001rgl.2	-	14	1949	c.1867G>A	c.(1867-1869)GTA>ATA	p.V623I	CASC1_uc001rgk.2_Missense_Mutation_p.V629I|CASC1_uc001rgm.3_Missense_Mutation_p.V687I|CASC1_uc001rgj.2_Missense_Mutation_p.V583I|CASC1_uc010sje.1_Missense_Mutation_p.V564I|CASC1_uc010sjf.1_Missense_Mutation_p.V511I	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	623										ovary(2)	2	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)			ACCTTAAATACGACTTTTGTA	0.373													T	25263069	C	T	25263069	3	4	219	1	0	0	0	0	1	0	0	0	2660	536	19	1	291	1	CASC1	12	25263069	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	12201133	25263069	108588826	118	113930											
CPNE8	144402	broad.mit.edu	37	chr12	39047804	39047804	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatctcagctaggacatcTttagccaatctagccatgct	9	11	3	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:39047804T>C	uc001rls.1	-	20	1659	c.1575A>G	c.(1573-1575)AAA>AAG	p.K525K	CPNE8_uc001rlr.1_Silent_p.K184K	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	525										pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTAGGACATCTTTAGCCAATC	0.463													C	39047804	T	C	39047804	2	2	219	1	0	0	0	0	0	0	0	1	3818	1606	56	3		3	CPNE8	12	39047804	Silent	SNP	T	TCGA-D7-8572-01A-11D-2340-08	13784735	39047804	94804091	119	113931											
CSRNP2	81566	broad.mit.edu	37	chr12	51470289	51470289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttggaaactgatgagCccacatccacatcatcaaac	7	12	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:51470289C>T	uc001rxu.1	-	2	354	c.56G>A	c.(55-57)GGC>GAC	p.G19D		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	19					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AACTGATGAGCCCACATCCAC	0.532													T	51470289	C	T	51470289	3	4	219	1	0	0	0	0	1	0	0	0	3964	739	26	2	1591	2	CSRNP2	12	51470289	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	12422485	51470289	82381606	120	113932											
KRT73	319101	broad.mit.edu	37	chr12	53009973	53009973	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtagtcctccaccacTtcgcgcacgctcctcagctc	6	18	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:53009973T>A	uc001sas.2	-	2	674	c.639A>T	c.(637-639)GAA>GAT	p.E213D		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	213	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCCACCACTTCGCGCACGC	0.622													A	53009973	T	A	53009973	3	1	219	1	0	0	0	0	1	0	0	0	8486	1606	56	5	1015	5	KRT73	12	53009973	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	1539684	53009973	80841922	121	113933											
ESYT1	23344	broad.mit.edu	37	chr12	56525997	56525997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactcccccattcagctcaCtctctgacaccatgatcatg	4	17	4	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:56525997C>T	uc001sjq.2	+	8	915	c.865C>T	c.(865-867)CTC>TTC	p.L289F	ESYT1_uc001sjr.2_Missense_Mutation_p.L289F	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	289						integral to membrane				ovary(4)|skin(1)	5						ATTCAGCTCACTCTCTGACAC	0.507													T	56525997	C	T	56525997	3	4	219	1	0	0	0	0	1	0	0	0	5264	565	20	4	895	4	ESYT1	12	56525997	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3516024	56525997	77325898	122	113934											
COQ10A	93058	broad.mit.edu	37	chr12	56664067	56664067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaaacagccatcccccGtgaactgatgttccatgagg	9	13	0	4	rs148374703	by1000genomes	TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:56664067G>A	uc001sko.3	+	5	971	c.710G>A	c.(709-711)CGT>CAT	p.R237H	COQ10A_uc001skp.3_Missense_Mutation_p.R205H|COQ10A_uc001skq.3_Missense_Mutation_p.R220H	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A isoform a	237						mitochondrial inner membrane				ovary(1)	1						GCCATCCCCCGTGAACTGATG	0.507													A	56664067	G	A	56664067	3	1	219	1	0	0	0	0	1	0	0	0	3743	1145	40	1	770	1	COQ10A	12	56664067	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	138070	56664067	77187828	123	113935											
NAV3	89795	broad.mit.edu	37	chr12	78513117	78513117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaaaaagcagtggagaTgaagggaaaaagcccccctc	13	9	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:78513117T>C	uc001syp.2	+	15	3314	c.3141T>C	c.(3139-3141)GAT>GAC	p.D1047D	NAV3_uc001syo.2_Silent_p.D1047D|NAV3_uc010sub.1_Silent_p.D547D|NAV3_uc009zsf.2_Silent_p.D55D	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1047	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D1047N(1)		large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GCAGTGGAGATGAAGGGAAAA	0.478										HNSCC(70;0.22)			C	78513117	T	C	78513117	2	2	219	1	0	0	0	0	0	0	0	1	10185	1461	51	3		3	NAV3	12	78513117	Silent	SNP	T	TCGA-D7-8572-01A-11D-2340-08	21849050	78513117	55338778	124	113936											
UBE3B	89910	broad.mit.edu	37	chr12	109972568	109972568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgccatcagcatgaacaCgggctttgaactctcctagc	8	14	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:109972568C>T	uc001top.2	+	28	3791	c.3188C>T	c.(3187-3189)ACG>ATG	p.T1063M	UBE3B_uc001toq.2_Missense_Mutation_p.T1063M|UBE3B_uc001tos.2_Missense_Mutation_p.T490M|UBE3B_uc001tot.2_Missense_Mutation_p.T181M|UBE3B_uc010sxp.1_3'UTR	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1063	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AGCATGAACACGGGCTTTGAA	0.617													T	109972568	C	T	109972568	3	4	219	1	0	0	0	0	1	0	0	0	16877	536	19	1	3290	1	UBE3B	12	109972568	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	31459451	109972568	23879327	125	113937											
GLTP	51228	broad.mit.edu	37	chr12	110318161	110318161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcggcttcagcaagtGttcggccagcagcgccattt	14	12	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:110318161G>A	uc001tpm.2	-	1	133	c.19C>T	c.(19-21)CAC>TAC	p.H7Y	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	7						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TTCAGCAAGTGTTCGGCCAGC	0.483													A	110318161	G	A	110318161	3	1	219	1	0	0	0	0	1	0	0	0	6471	1377	48	4	630	4	GLTP	12	110318161	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	345593	110318161	23533734	126	113938											
TCHP	84260	broad.mit.edu	37	chr12	110350867	110350867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgcacgggacagacTgatgagcgaggtaatcccag	15	11	0	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:110350867T>A	uc001tpn.2	+	10	1277	c.1124T>A	c.(1123-1125)CTG>CAG	p.L375Q	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.L375Q	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	375	Trichohyalin/plectin homology domain.|Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						CGGGACAGACTGATGAGCGAG	0.607													A	110350867	T	A	110350867	3	1	219	1	0	0	0	0	1	0	0	0	15699	1580	55	5	1158	5	TCHP	12	110350867	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	32706	110350867	23501028	127	113939											
RPLP0	6175	broad.mit.edu	37	chr12	120635143	120635143	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accttttcagcaagtgggaaGgtgtaatccgtctccacaga	10	10	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr12:120635143G>C	uc001txp.2	-	7	1011	c.774C>G	c.(772-774)ACC>ACG	p.T258T	GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Silent_p.T258T|RPLP0_uc001txr.2_Silent_p.T196T	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	258					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			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGTGGGAAGGTGTAATCCG	0.498													C	120635143	G	C	120635143	2	2	219	1	0	0	0	0	0	0	0	1	13604	987	35	5		5	RPLP0	12	120635143	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	10284276	120635143	13216752	128	113940											
B3GALTL	145173	broad.mit.edu	37	chr13	31897994	31897995	+	Frame_Shift_Ins	INS	-	-	T													gggaatgtgctttagtggctINStgggaatccctgtgacacac							TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr13:31897993_31897994C>CT	uc010aaz.3	+	13	1400_1401	c.1290_1291C>CT	c.(1288-1293)ggcttgfs	p.G430fs	B3GALTL_uc001utn.4_Non-coding_Transcript|B3GALTL_uc001uto.4_Frame_Shift_Ins_p.G35fs	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	430					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)		GCTTTAGTGGCTTGGGAATCCC	0.49													T	31897995	-	T	31897994	7	5	219	1	0	1	1	0	0	0	0	0	1252	1606	56	0	1345	0	B3GALTL	13	31897994	Frame_Shift_Ins	INS	-	TCGA-D7-8572-01A-11D-2340-08		31897994	83271884	129	113941											
PCDH9	5101	broad.mit.edu	37	chr13	67800353	67800353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacatcagtaggtgctggTttttcttccagagtaatgtt	9	9	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr13:67800353T>C	uc001vik.2	-	2	2912	c.2220A>G	c.(2218-2220)AAA>AAG	p.K740K	PCDH9_uc001vil.2_Silent_p.K740K|PCDH9_uc010thl.1_Silent_p.K740K|PCDH9_uc001vin.3_Silent_p.K740K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	740	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGGTGCTGGTTTTTCTTCCA	0.423													C	67800353	T	C	67800353	2	2	219	1	0	0	0	0	0	0	0	1	11518	1722	60	3		3	PCDH9	13	67800353	Silent	SNP	T	TCGA-D7-8572-01A-11D-2340-08	35902359	67800353	47369525	130	113942											
LMO7	4008	broad.mit.edu	37	chr13	76381790	76381790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcagccctggatcctgaCttagagaatgatgatttctt	10	8	1	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr13:76381790C>T	uc001vjv.2	+	7	1432	c.672C>T	c.(670-672)GAC>GAT	p.D224D	LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.D130D	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	509						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGATCCTGACTTAGAGAATG	0.463													T	76381790	C	T	76381790	2	4	219	1	0	0	0	0	0	0	0	1	8855	564	20	4		4	LMO7	13	76381790	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	8581437	76381790	38788088	131	113943											
SLITRK6	84189	broad.mit.edu	37	chr13	86370408	86370408	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagtcatttgtgtgaAgcatcgtcaagccgttattt	9	7	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr13:86370408A>C	uc001vll.1	-	2	695	c.236T>G	c.(235-237)CTT>CGT	p.L79R	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	79	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTTGTGTGAAGCATCGTCAA	0.373													C	86370408	A	C	86370408	3	2	219	1	0	0	0	0	1	0	0	0	14747	72	3	5	2293	5	SLITRK6	13	86370408	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	9988618	86370408	28799470	132	113944											
GPC5	2262	broad.mit.edu	37	chr13	93518574	93518574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtgatgtaaagcaaaTccatcaaacagacactggca	7	10	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr13:93518574T>G	uc010tif.1	+	8	1967	c.1601T>G	c.(1600-1602)ATC>AGC	p.I534S		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	534						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTAAAGCAAATCCATCAAACA	0.428													G	93518574	T	G	93518574	3	3	219	1	0	0	0	0	1	0	0	0	6601	1435	50	5	1631	5	GPC5	13	93518574	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	7148166	93518574	21651304	133	113945											
NALCN	259232	broad.mit.edu	37	chr13	101717887	101717887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtagccgcagcaggaaCttgacgcggaacgtggggat	16	10	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr13:101717887C>T	uc001vox.1	-	40	4662	c.4473G>A	c.(4471-4473)AAG>AAA	p.K1491K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1491	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGCAGGAACTTGACGCGGA	0.532													T	101717887	C	T	101717887	2	4	219	1	0	0	0	0	0	0	0	1	10148	564	20	4		4	NALCN	13	101717887	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	8199313	101717887	13451991	134	113946											
CHD8	57680	broad.mit.edu	37	chr14	21862288	21862288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccgaagcaattctataCggtagagagtccgtgaggct	13	9	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr14:21862288C>T	uc001was.1	-	32	4923	c.4829G>A	c.(4828-4830)CGT>CAT	p.R1610H	CHD8_uc001war.1_Missense_Mutation_p.R1506H|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1889					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAATTCTATACGGTAGAGAGT	0.512													T	21862288	C	T	21862288	3	4	219	1	0	0	0	0	1	0	0	0	3331	536	19	1	2107	1	CHD8	14	21862288	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08		21862288	85487252	135	113947											
NUBPL	80224	broad.mit.edu	37	chr14	32034253	32034253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcactagcagcgaacgattCggtaggtgtttattaataga	11	6	0	1	rs35433432		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr14:32034253C>T	uc001wrk.3	+	3	345	c.290C>T	c.(289-291)TCG>TTG	p.S97L	NUBPL_uc010amj.2_RNA	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	97					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GCGAACGATTCGGTAGGTGtt	0.244													T	32034253	C	T	32034253	3	4	219	1	0	0	0	0	1	0	0	0	10717	898	31	1	300	1	NUBPL	14	32034253	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	10171965	32034253	75315287	136	113948											
SRP54	6729	broad.mit.edu	37	chr14	35483028	35483028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgctgccacaaaaagtcCgattattttcattggtacag	8	9	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr14:35483028C>T	uc001wso.2	+	10	1157	c.806C>T	c.(805-807)CCG>CTG	p.P269L	SRP54_uc010tpp.1_Missense_Mutation_p.P220L|SRP54_uc010tpq.1_Missense_Mutation_p.P205L	NM_003136	NP_003127	P61011	SRP54_HUMAN	signal recognition particle 54kDa isoform 1	269	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			ovary(1)	1	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ACAAAAAGTCCGATTATTTTC	0.368													T	35483028	C	T	35483028	3	4	219	1	0	0	0	0	1	0	0	0	15154	652	23	1	840	1	SRP54	14	35483028	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3448775	35483028	71866512	137	113949											
SPTB	6710	broad.mit.edu	37	chr14	65251009	65251009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgggaagccagctctgCcacaaacgcctggtgcttta	10	12	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr14:65251009C>T	uc001xht.2	-	18	4012	c.3958G>A	c.(3958-3960)GCA>ACA	p.A1320T	SPTB_uc001xhr.2_Missense_Mutation_p.A1320T|SPTB_uc001xhs.2_Missense_Mutation_p.A1320T|SPTB_uc001xhu.2_Missense_Mutation_p.A1320T|SPTB_uc010aqi.2_5'Flank	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1320	Spectrin 10.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		GCCAGCTCTGCCACAAACGCC	0.522													T	65251009	C	T	65251009	3	4	219	1	0	0	0	0	1	0	0	0	15117	739	26	2	3169	2	SPTB	14	65251009	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	29767981	65251009	42098531	138	113950											
OCA2	4948	broad.mit.edu	37	chr15	28260028	28260028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccatcaaaagagggacaGcctgggtctgctgcagggag	16	9	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr15:28260028G>A	uc001zbh.3	-	9	1048	c.938C>T	c.(937-939)GCT>GTT	p.A313V	OCA2_uc010ayv.2_Missense_Mutation_p.A313V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	313	Extracellular (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		AAGAGGGACAGCCTGGGTCTG	0.577									Oculocutaneous_Albinism				A	28260028	G	A	28260028	3	1	219	1	0	0	0	0	1	0	0	0	10815	971	34	2	1642	2	OCA2	15	28260028	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		28260028	74271364	139	113951											
TJP1	7082	broad.mit.edu	37	chr15	30019161	30019161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagttaagacgatcaactGcatttggtgttacatctaat	7	7	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr15:30019161G>T	uc001zcr.2	-	17	2610	c.2135C>A	c.(2134-2136)GCA>GAA	p.A712E	TJP1_uc010azl.2_Missense_Mutation_p.A700E|TJP1_uc001zcq.2_Missense_Mutation_p.A716E|TJP1_uc001zcs.2_Missense_Mutation_p.A712E	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	712	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		ACGATCAACTGCATTTGGTGT	0.328													T	30019161	G	T	30019161	3	4	219	1	0	0	0	0	1	0	0	0	15926	1319	46	5	3159	5	TJP1	15	30019161	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	1759133	30019161	72512231	140	113952											
FBN1	2200	broad.mit.edu	37	chr15	48829849	48829849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttggaatgaagccacggCggcaggggtgaggctgggca	18	7	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr15:48829849C>T	uc001zwx.1	-	7	1023	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	232	TB 1.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAAGCCACGGCGGCAGGGGTG	0.552													T	48829849	C	T	48829849	3	4	219	1	0	0	0	0	1	0	0	0	5702	768	27	1	8160	1	FBN1	15	48829849	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	18810688	48829849	53701543	141	113953											
GABPB1	2553	broad.mit.edu	37	chr15	50570977	50570977	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctgtttctgaagagcttctCtctcctaattaaaagaagag	8	8	3	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr15:50570977C>G	uc001zyb.2	-	9	1464	c.1040G>C	c.(1039-1041)AGA>ACA	p.R347T	GABPB1_uc001zya.2_Missense_Mutation_p.R335T|GABPB1_uc010ufg.1_Missense_Mutation_p.R271T	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	347					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			large_intestine(1)	1						AAGAGCTTCTCTCTCCTAATT	0.338													G	50570977	C	G	50570977	3	3	219	1	0	0	0	0	1	0	0	0	6158	913	32	5	151	5	GABPB1	15	50570977	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	1741128	50570977	51960415	142	113954											
HERC1	8925	broad.mit.edu	37	chr15	63984726	63984726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaaaactaaaaaatccCctagatggagttcggctgca	9	8	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr15:63984726C>A	uc002amp.2	-	31	5862	c.5714G>T	c.(5713-5715)GGG>GTG	p.G1905V		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1905					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TAAAAAATCCCCTAGATGGAG	0.388													A	63984726	C	A	63984726	3	1	219	1	0	0	0	0	1	0	0	0	7057	623	22	5	9063	5	HERC1	15	63984726	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	13413749	63984726	38546666	143	113955											
SNUPN	10073	broad.mit.edu	37	chr15	75901916	75901916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccttttgctgttgagtttCgcctgttgcctcctggcaga	10	11	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr15:75901916C>T	uc002ban.2	-	5	575	c.485G>A	c.(484-486)CGA>CAA	p.R162Q	SNUPN_uc002bao.2_Missense_Mutation_p.R162Q|SNUPN_uc002bap.2_Missense_Mutation_p.R204Q|SNUPN_uc002baq.2_Missense_Mutation_p.R162Q|SNUPN_uc002bar.2_Missense_Mutation_p.R162Q|SNUPN_uc002bas.2_Missense_Mutation_p.R162Q	NM_005701	NP_005692	O95149	SPN1_HUMAN	snurportin 1	162					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			pancreas(1)	1						TGTTGAGTTTCGCCTGTTGCC	0.403													T	75901916	C	T	75901916	3	4	219	1	0	0	0	0	1	0	0	0	14877	884	31	1	617	1	SNUPN	15	75901916	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	11917190	75901916	26629476	144	113956											
CCNF	899	broad.mit.edu	37	chr16	2482985	2482985	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactcccagctgaaggacctGgtggacaaccacgccagtgt	11	14	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr16:2482985G>C	uc002cqd.1	+	3	283	c.195G>C	c.(193-195)CTG>CTC	p.L65L	CCNF_uc002cqe.1_Intron	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	65	F-box.				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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TGAAGGACCTGGTGGACAACC	0.612													C	2482985	G	C	2482985	2	2	219	1	0	0	0	0	0	0	0	1	2922	1335	47	5		5	CCNF	16	2482985	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08		2482985	87871768	145	113957											
KIAA0430	9665	broad.mit.edu	37	chr16	15719275	15719275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagcagatccagaatttGcctgtgacccttttccaggc	9	11	0	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr16:15719275G>C	uc002ddr.2	-	8	2100	c.1907C>G	c.(1906-1908)GCA>GGA	p.A636G	KIAA0430_uc002ddq.2_Intron|KIAA0430_uc010uzv.1_Missense_Mutation_p.A632G|KIAA0430_uc010uzw.1_Missense_Mutation_p.A634G	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	635						peroxisome	nucleotide binding|RNA binding				0						TCCAGAATTTGCCTGTGACCC	0.373													C	15719275	G	C	15719275	3	2	219	1	0	0	0	0	1	0	0	0	8177	1319	46	5	3404	5	KIAA0430	16	15719275	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	13236290	15719275	74635478	146	113958											
DNAH3	55567	broad.mit.edu	37	chr16	21108730	21108730	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggctgtcgaccacagctGctcataaggtactttgttct	9	10	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr16:21108730G>A	uc010vbe.1	-	18	2611	c.2611C>T	c.(2611-2613)CAG>TAG	p.Q871*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	871	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GACCACAGCTGCTCATAAGGT	0.483													A	21108730	G	A	21108730	4	1	219	1	0	0	0	0	0	1	0	0	4603	1328	46	2	9918	2	DNAH3	16	21108730	Nonsense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	5389455	21108730	69246023	147	113959											
CDH1	999	broad.mit.edu	37	chr16	68847282	68847282	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cactgaaagtgactgatgctGatgcccccaataccccagcg	9	14	0	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr16:68847282G>C	uc002ewg.1	+	9	1328	c.1204G>C	c.(1204-1206)GAT>CAT	p.D402H	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	402	Cadherin 3.|Extracellular (Potential).				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	p.Y380_K440del(5)|p.D402N(2)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		GACTGATGCTGATGCCCCCAA	0.473			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				C	68847282	G	C	68847282	3	2	219	1	0	0	0	0	1	0	0	0	3095	1290	45	5	1238	5	CDH1	16	68847282	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	47738552	68847282	21507471	148	113960											
GLG1	2734	broad.mit.edu	37	chr16	74524978	74524978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgtagggtccgcccttttCgatgtaatccggaacaatgg	12	9	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr16:74524978C>T	uc002fcy.3	-	8	1420	c.1370G>A	c.(1369-1371)CGA>CAA	p.R457Q	GLG1_uc002fcx.2_Missense_Mutation_p.R457Q|GLG1_uc002fcw.3_Missense_Mutation_p.R446Q|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	457	Extracellular (Potential).|Cys-rich GLG1 6.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						CCGCCCTTTTCGATGTAATCC	0.507													T	74524978	C	T	74524978	3	4	219	1	0	0	0	0	1	0	0	0	6436	884	31	1	2325	1	GLG1	16	74524978	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	5677696	74524978	15829775	149	113961											
SCARF1	8578	broad.mit.edu	37	chr17	1538386	1538386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttgaccttggcttccGcctggcctttctggaagcta	9	15	2	1	rs144425748	byFrequency	TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:1538386G>T	uc002fsz.1	-	11	2209	c.2159C>A	c.(2158-2160)GCG>GAG	p.A720E	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.A634E	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	720	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGCTTCCGCCTGGCCTTT	0.632													T	1538386	G	T	1538386	3	4	219	1	0	0	0	0	1	0	0	0	13883	1087	38	5	337	5	SCARF1	17	1538386	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		1538386	79656824	150	113962											
ZZEF1	23140	broad.mit.edu	37	chr17	3920947	3920947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagctctgctgcagttcGctctctgtgctggagatcag	12	11	3	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:3920947G>A	uc002fxe.2	-	48	7783	c.7719C>T	c.(7717-7719)AGC>AGT	p.S2573S	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2573							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCTGCAGTTCGCTCTCTGTGC	0.592													A	3920947	G	A	3920947	2	1	219	1	0	0	0	0	0	0	0	1	18252	1078	38	1		1	ZZEF1	17	3920947	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	2382561	3920947	77274263	151	113963											
ALOXE3	59344	broad.mit.edu	37	chr17	8012632	8012632	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcccgtgctcatgaggtaGatgaggccttgcctcccgat	13	12	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:8012632G>A	uc010cnr.2	-	12	1792	c.1422C>T	c.(1420-1422)ATC>ATT	p.I474I	ALOXE3_uc002gka.2_Silent_p.I630I|ALOXE3_uc010vuo.1_Silent_p.I606I	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	474	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						TCATGAGGTAGATGAGGCCTT	0.652													A	8012632	G	A	8012632	2	1	219	1	0	0	0	0	0	0	0	1	542	932	33	4		4	ALOXE3	17	8012632	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	4091685	8012632	73182578	152	113964											
COX10	1352	broad.mit.edu	37	chr17	14110524	14110524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacgcagggccccctccCagctgagagcactgggacgc	16	15	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:14110524C>T	uc002gof.3	+	7	1530	c.1326C>T	c.(1324-1326)CCC>CCT	p.P442P	COX10_uc010vvs.1_Silent_p.P225P|COX10_uc010vvt.1_Silent_p.P250P	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	442					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GGCCCCCTCCCAGCTGAGAGC	0.632													T	14110524	C	T	14110524	2	4	219	1	0	0	0	0	0	0	0	1	3762	581	21	4		4	COX10	17	14110524	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	6097892	14110524	67084686	153	113965											
FLCN	201163	broad.mit.edu	37	chr17	17119728	17119728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggggggatctgcacgtgCgggctgagccccaggaagtt	19	9	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:17119728C>T	uc002gra.3	-	11	1770	c.1266G>A	c.(1264-1266)CCG>CCA	p.P422P	PLD6_uc010cpn.2_RNA	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	422					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						TCTGCACGTGCGGGCTGAGCC	0.677									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				T	17119728	C	T	17119728	2	4	219	1	0	0	0	0	0	0	0	1	5921	755	27	1		1	FLCN	17	17119728	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3009204	17119728	64075482	154	113966											
MLLT6	4302	broad.mit.edu	37	chr17	36865461	36865461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcagggccgggagagCaaggcggcctcgggagcctg	21	10	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:36865461C>A	uc002hqi.3	+	5	403	c.390C>A	c.(388-390)AGC>AGA	p.S130R	MLLT6_uc010wdr.1_Missense_Mutation_p.S130R|MLLT6_uc010cvm.1_Missense_Mutation_p.S130R	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	130	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GCCGGGAGAGCAAGGCGGCCT	0.642			T	MLL	AL								A	36865461	C	A	36865461	3	1	219	1	0	0	0	0	1	0	0	0	9630	709	25	5	408	5	MLLT6	17	36865461	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	19745733	36865461	44329749	155	113967											
STAT3	6774	broad.mit.edu	37	chr17	40476813	40476813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactgccagctcaggacctCggccacttgatcccaggttc	10	15	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:40476813C>T	uc002hzl.1	-	17	1756	c.1516G>A	c.(1516-1518)GAG>AAG	p.E506K	STAT3_uc002hzk.1_Missense_Mutation_p.E506K|STAT3_uc002hzm.1_Missense_Mutation_p.E506K|STAT3_uc010wgh.1_Missense_Mutation_p.E408K|STAT3_uc002hzn.1_Missense_Mutation_p.E506K	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	506					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			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCAGGACCTCGGCCACTTGA	0.502									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				T	40476813	C	T	40476813	3	4	219	1	0	0	0	0	1	0	0	0	15265	893	31	1	828	1	STAT3	17	40476813	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3611352	40476813	40718397	156	113968											
PTRF	284119	broad.mit.edu	37	chr17	40557205	40557205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtccacgcgccgcaggcCgctgcgcttgatacgctctg	13	16	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:40557205C>T	uc002hzo.2	-	2	832	c.673G>A	c.(673-675)GGC>AGC	p.G225S	PTRF_uc010wgi.1_Missense_Mutation_p.G207S	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	225	Potential.				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCCGCAGGCCGCTGCGCTTG	0.632													T	40557205	C	T	40557205	3	4	219	1	0	0	0	0	1	0	0	0	12815	652	23	1	503	1	PTRF	17	40557205	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	80392	40557205	40638005	157	113969											
DNAH17	8632	broad.mit.edu	37	chr17	76563093	76563093	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacctaccgagtctccaggGtccaagggatcatatttgca	11	11	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr17:76563093G>C	uc002jvv.1	-	6	652	c.546C>G	c.(544-546)GAC>GAG	p.D182E						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCTCCAGGGTCCAAGGGAT	0.582													C	76563093	G	C	76563093	3	2	219	1	0	0	0	0	1	0	0	0	4601	1252	44	5	12236	5	DNAH17	17	76563093	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	36005888	76563093	4632117	158	113970											
OSBPL1A	114876	broad.mit.edu	37	chr18	21751427	21751427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccttaccaaaaaggccaCatggcttaaaattcaacaca	4	11	1	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr18:21751427C>T	uc002kve.2	-	23	2411	c.2237G>A	c.(2236-2238)TGT>TAT	p.C746Y	OSBPL1A_uc002kvd.2_Missense_Mutation_p.C233Y|OSBPL1A_uc010xbc.1_Missense_Mutation_p.C364Y	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	746					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	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)					AAAAAGGCCACATGGCTTAAA	0.303													T	21751427	C	T	21751427	3	4	219	1	0	0	0	0	1	0	0	0	11277	478	17	4	639	4	OSBPL1A	18	21751427	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08		21751427	56325821	159	113971											
DSC2	1824	broad.mit.edu	37	chr18	28651610	28651610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacaatattgcaaggatggCccactttccaagttgtactc	7	11	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr18:28651610C>A	uc002kwl.3	-	13	2540	c.2086G>T	c.(2086-2088)GCC>TCC	p.A696S	DSC2_uc002kwk.3_Missense_Mutation_p.A696S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	696	Helical; (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCAAGGATGGCCCACTTTCCA	0.403													A	28651610	C	A	28651610	3	1	219	1	0	0	0	0	1	0	0	0	4766	739	26	5	675	5	DSC2	18	28651610	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	6900183	28651610	49425638	160	113972											
ZNF397	84307	broad.mit.edu	37	chr18	32822695	32822695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagttgcacacaaaggaGcagatcttagaactgctggt	11	9	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr18:32822695G>A	uc010dmp.2	+	2	417	c.261G>A	c.(259-261)GAG>GAA	p.E87E	ZNF397_uc002kyi.2_Silent_p.E87E|ZNF397_uc010dmq.2_Silent_p.E87E|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Silent_p.E87E|ZNF397_uc002kyk.1_Silent_p.E87E	NM_001135178	NP_001128650	Q8NF99	ZN397_HUMAN	zinc finger protein 397 isoform 1	87	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACACAAAGGAGCAGATCTTAG	0.532													A	32822695	G	A	32822695	2	1	219	1	0	0	0	0	0	0	0	1	17880	962	34	2		2	ZNF397	18	32822695	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	4171085	32822695	45254553	161	113973											
DCC	1630	broad.mit.edu	37	chr18	50734058	50734058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgtctccagaatatagagGttgatggactatcttataaa	8	5	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr18:50734058G>T	uc002lfe.1	+	11	2319	c.1732G>T	c.(1732-1734)GTT>TTT	p.V578F	DCC_uc010xdr.1_Missense_Mutation_p.V426F|DCC_uc010dpf.1_Missense_Mutation_p.V233F	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	578	Extracellular (Potential).|Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAATATAGAGGTTGATGGACT	0.383													T	50734058	G	T	50734058	3	4	219	1	0	0	0	0	1	0	0	0	4282	1261	44	5	1774	5	DCC	18	50734058	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	17911363	50734058	27343190	162	113974											
STXBP2	6813	broad.mit.edu	37	chr19	7704638	7704638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaagacatcaacaaacGgcgggaacccattcccagtc	9	12	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:7704638G>A	uc002mha.3	+	4	236	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	STXBP2_uc002mhb.3_Missense_Mutation_p.R64Q|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R64Q|STXBP2_uc010dvk.2_Missense_Mutation_p.R32Q|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	64					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			central_nervous_system(1)	1						ATCAACAAACGGCGGGAACCC	0.498													A	7704638	G	A	7704638	3	1	219	1	0	0	0	0	1	0	0	0	15352	1116	39	1	205	1	STXBP2	19	7704638	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		7704638	51424345	163	113975											
OR7D2	162998	broad.mit.edu	37	chr19	9297113	9297113	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgggatcattttctcttattCacgaattgcttcatccataa	5	9	4	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:9297113C>G	uc002mkz.1	+	1	844	c.656C>G	c.(655-657)TCA>TGA	p.S219*		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	219	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TTCTCTTATTCACGAATTGCT	0.458													G	9297113	C	G	9297113	4	3	219	1	0	0	0	0	0	1	0	0	11219	838	29	5	658	5	OR7D2	19	9297113	Nonsense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	1592475	9297113	49831870	164	113976											
LDLR	3949	broad.mit.edu	37	chr19	11224398	11224398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgttattcagggagaacGgctccaagccaagggccatc	11	11	1	1	rs141673997	byFrequency	TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:11224398G>A	uc002mqk.3	+	10	1714	c.1546G>A	c.(1546-1548)GGC>AGC	p.G516S	LDLR_uc010xlk.1_Missense_Mutation_p.G516S|LDLR_uc010xll.1_Missense_Mutation_p.G475S|LDLR_uc010xlm.1_Missense_Mutation_p.G369S|LDLR_uc010xln.1_Missense_Mutation_p.G389S|LDLR_uc010xlo.1_Missense_Mutation_p.G348S	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	516	Extracellular (Potential).|LDL-receptor class B 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			ovary(2)|skin(2)	4		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)	CAGGGAGAACGGCTCCAAGCC	0.572													A	11224398	G	A	11224398	3	1	219	1	0	0	0	0	1	0	0	0	8704	1116	39	1	1584	1	LDLR	19	11224398	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	1927285	11224398	47904585	165	113977											
NR2F6	2063	broad.mit.edu	37	chr19	17355924	17355924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtcgctggcggcaccggGgggcgaggccgagtcgtcct	20	13	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:17355924G>A	uc002nfq.2	-	1	228	c.106C>T	c.(106-108)CCC>TCC	p.P36S		NM_005234	NP_005225	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	36					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				0						GCGGCACCGGGGGGCGAGGCC	0.771													A	17355924	G	A	17355924	3	1	219	1	0	0	0	0	1	0	0	0	10629	1232	43	4	1124	4	NR2F6	19	17355924	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	6131526	17355924	41773059	166	113978											
ZNF431	170959	broad.mit.edu	37	chr19	21365482	21365482	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcaagacataaaagattctTttcaacaagtaatactgaga	6	6	2	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:21365482T>A	uc002npp.2	+	5	523	c.376T>A	c.(376-378)TTT>ATT	p.F126I	ZNF431_uc010ecq.2_Missense_Mutation_p.F35I|ZNF431_uc010ecr.2_Missense_Mutation_p.F127I	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						AAAAGATTCTTTTCAACAAGT	0.338													A	21365482	T	A	21365482	3	1	219	1	0	0	0	0	1	0	0	0	17902	1841	64	5	394	5	ZNF431	19	21365482	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	4009558	21365482	37763501	167	113979											
UBA2	10054	broad.mit.edu	37	chr19	34935939	34935939	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagccagagctagagcAtctaatgaagatggtgacat	12	8	1	5			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:34935939A>C	uc002nvk.2	+	8	754	c.684A>C	c.(682-684)GCA>GCC	p.A228A	UBA2_uc010xrx.1_Silent_p.A101A|UBA2_uc002nvl.2_Silent_p.A132A	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	228					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGCTAGAGCATCTAATGAAG	0.358													C	34935939	A	C	34935939	2	2	219	1	0	0	0	0	0	0	0	1	16825	204	8	5		5	UBA2	19	34935939	Silent	SNP	A	TCGA-D7-8572-01A-11D-2340-08	13570457	34935939	24193044	168	113980											
RYR1	6261	broad.mit.edu	37	chr19	38986957	38986957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtcaacgtcctcgggggCggcgagtccaaggtgagggc	18	10	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:38986957C>T	uc002oit.2	+	40	6781	c.6651C>T	c.(6649-6651)GGC>GGT	p.G2217G	RYR1_uc002oiu.2_Silent_p.G2217G|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2217	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCTCGGGGGCGGCGAGTCCA	0.637													T	38986957	C	T	38986957	2	4	219	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38986957	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	4051018	38986957	20142026	169	113981											
PNMAL2	57469	broad.mit.edu	37	chr19	46998642	46998642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctgctccaggccctcCgggatgccggtgaccagcag	13	16	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:46998642C>T	uc002pes.2	-	1	528	c.81G>A	c.(79-81)CCG>CCA	p.P27P	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	27										central_nervous_system(1)	1		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)		ccaggccctccgggatgccgg	0.065													T	46998642	C	T	46998642	2	4	219	1	0	0	0	0	0	0	0	1	12158	639	23	1		1	PNMAL2	19	46998642	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	8011685	46998642	12130341	170	113982											
SCAF1	58506	broad.mit.edu	37	chr19	50156700	50156700	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaggaggctggggtccgAggtggggcggaggaggagga	24	5	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:50156700A>C	uc002poq.2	+	7	3178	c.3054A>C	c.(3052-3054)CGA>CGC	p.R1018R		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1018	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		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)		CTGGGGTCCGAGGTGGGGCgg	0.498													C	50156700	A	C	50156700	2	2	219	1	0	0	0	0	0	0	0	1	13868	291	11	5		5	SCAF1	19	50156700	Silent	SNP	A	TCGA-D7-8572-01A-11D-2340-08	3158058	50156700	8972283	171	113983											
ZNF415	55786	broad.mit.edu	37	chr19	53612111	53612111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgccttgcaaggcttgaaGtctgactgaagactttacca	9	9	1	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:53612111G>T	uc002qax.2	-	7	1680	c.1331C>A	c.(1330-1332)ACT>AAT	p.T444N	ZNF415_uc002qat.2_Missense_Mutation_p.T408N|ZNF415_uc002qaw.2_Missense_Mutation_p.T396N|ZNF415_uc010yds.1_Missense_Mutation_p.T396N|ZNF415_uc010ydt.1_Missense_Mutation_p.T396N|ZNF415_uc002qau.2_Missense_Mutation_p.T383N|ZNF415_uc002qav.2_Missense_Mutation_p.T408N|ZNF415_uc002qba.2_Missense_Mutation_p.T166N|ZNF415_uc002qay.2_Missense_Mutation_p.T383N|ZNF415_uc002qaz.2_Missense_Mutation_p.T444N	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	444	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		AAGGCTTGAAGTCTGACTGAA	0.413													T	53612111	G	T	53612111	3	4	219	1	0	0	0	0	1	0	0	0	17889	1029	36	5	484	5	ZNF415	19	53612111	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	3455411	53612111	5516872	172	113984											
ZNF813	126017	broad.mit.edu	37	chr19	53994018	53994018	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcaatttcaacatccCaaagaatttcttgtaggccc	4	13	3	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:53994018C>G	uc002qbu.2	+	4	660	c.532C>G	c.(532-534)CAA>GAA	p.Q178E	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TTCAACATCCCAAAGAATTTC	0.398													G	53994018	C	G	53994018	3	3	219	1	0	0	0	0	1	0	0	0	18172	595	21	5	542	5	ZNF813	19	53994018	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	381907	53994018	5134965	173	113985											
MZF1	7593	broad.mit.edu	37	chr19	59073782	59073782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtggtagggcttttcgCcggtgtgtgtcctctgatga	15	9	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr19:59073782C>T	uc002qto.2	-	6	2423	c.1862G>A	c.(1861-1863)GGC>GAC	p.G621D	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.G621D	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	621					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		GGGCTTTTCGCCGGTGTGTGT	0.672													T	59073782	C	T	59073782	3	4	219	1	0	0	0	0	1	0	0	0	10108	739	26	2	346	2	MZF1	19	59073782	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	5079764	59073782	55201	174	113986											
ENTPD6	955	broad.mit.edu	37	chr20	25187932	25187932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcccacagccccctggGgacagctgcagacgggcacg	15	16	0	1	rs140692182	byFrequency	TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr20:25187932G>A	uc002wuj.2	+	3	455	c.275G>A	c.(274-276)GGG>GAG	p.G92E	ENTPD6_uc010zsy.1_Missense_Mutation_p.G92E|ENTPD6_uc010gdj.1_Missense_Mutation_p.G64E|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.G75E|ENTPD6_uc010zta.1_Missense_Mutation_p.G92E|ENTPD6_uc002wun.2_Missense_Mutation_p.G92E|ENTPD6_uc002wuk.2_Missense_Mutation_p.G91E|ENTPD6_uc002wul.2_Missense_Mutation_p.G91E|ENTPD6_uc010ztb.1_Missense_Mutation_p.G64E|ENTPD6_uc010ztc.1_Missense_Mutation_p.G64E|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	92	Lumenal (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0						AGCCCCCTGGGGACAGCTGCA	0.662													A	25187932	G	A	25187932	3	1	219	1	0	0	0	0	1	0	0	0	5143	1232	43	4	288	4	ENTPD6	20	25187932	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08		25187932	37837588	175	113987											
C20orf160	140706	broad.mit.edu	37	chr20	30605902	30605902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattctgcgaatccctacgCacgagatcgccgccgcctcc	8	18	2	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr20:30605902C>A	uc002wxf.2	+	4	416	c.403C>A	c.(403-405)CAC>AAC	p.H135N		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	135										central_nervous_system(3)|ovary(1)	4						AATCCCTACGCACGAGATCGC	0.552													A	30605902	C	A	30605902	3	1	219	1	0	0	0	0	1	0	0	0	2093	710	25	5	417	5	C20orf160	20	30605902	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	5417970	30605902	32419618	176	113988											
CEP250	11190	broad.mit.edu	37	chr20	34063452	34063452	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaagagcaaacggaagTgaccgcagcgctggctaggg	17	9	0	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr20:34063452T>G	uc002xcm.2	+	16	2368	c.1697T>G	c.(1696-1698)GTG>GGG	p.V566G	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Intron	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	566	Gln/Glu-rich.|Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAAACGGAAGTGACCGCAGCG	0.567													G	34063452	T	G	34063452	3	3	219	1	0	0	0	0	1	0	0	0	3252	1696	59	5	1743	5	CEP250	20	34063452	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	3457550	34063452	28962068	177	113989											
SEMG2	6407	broad.mit.edu	37	chr20	43851491	43851491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccataaggaaaataaaatAtcataccaatcttcgagtac	6	8	2	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr20:43851491A>G	uc010ggz.2	+	2	1275	c.1218A>G	c.(1216-1218)ATA>ATG	p.I406M	SEMG2_uc002xnk.2_Missense_Mutation_p.I406M|SEMG2_uc002xnl.2_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	406	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AAAATAAAATATCATACCAAT	0.383													G	43851491	A	G	43851491	3	3	219	1	0	0	0	0	1	0	0	0	14045	439	16	3	1224	3	SEMG2	20	43851491	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	9788039	43851491	19174029	178	113990			1	53		3	3	196	A		7.499153e-07
SEMG2	6407	broad.mit.edu	37	chr20	43851594	43851594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctatccaaactgaagagAaaatacatggcaagtctcaa	6	8	2	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr20:43851594A>C	uc010ggz.2	+	2	1378	c.1321A>C	c.(1321-1323)AAA>CAA	p.K441Q	SEMG2_uc002xnk.2_Missense_Mutation_p.K441Q|SEMG2_uc002xnl.2_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	441	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AACTGAAGAGAAAATACATGG	0.378													C	43851594	A	C	43851594	3	2	219	1	0	0	0	0	1	0	0	0	14045	247	9	5	1327	5	SEMG2	20	43851594	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	103	43851594	19173926	179	113991			1	53		3	3	196	A		7.499153e-07
SEMG2	6407	broad.mit.edu	37	chr20	43851686	43851686	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtcataccaatcttcAagtacagaagaaagacgact	6	8	3	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr20:43851686A>G	uc010ggz.2	+	2	1470	c.1413A>G	c.(1411-1413)TCA>TCG	p.S471S	SEMG2_uc002xnk.2_Silent_p.S471S|SEMG2_uc002xnl.2_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	471	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACCAATCTTCAAGTACAGAAG	0.383													G	43851686	A	G	43851686	2	3	219	1	0	0	0	0	0	0	0	1	14045	117	5	3		3	SEMG2	20	43851686	Silent	SNP	A	TCGA-D7-8572-01A-11D-2340-08	92	43851686	19173834	180	113992			1	53		3	3	196	A		7.499153e-07
CHRNA4	1137	broad.mit.edu	37	chr20	61990948	61990948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagcggacgaggaccacGtccgagatgttggccacggg	16	12	0	1	rs112051150		TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr20:61990948G>T	uc002yes.2	-	2	358	c.180C>A	c.(178-180)GAC>GAA	p.D60E	CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	60	Extracellular (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGAGGACCACGTCCGAGATGT	0.632													T	61990948	G	T	61990948	3	4	219	1	0	0	0	0	1	0	0	0	3385	1136	40	5	1723	5	CHRNA4	20	61990948	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	18139262	61990948	1034572	181	113993											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654953	31654953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacactgaagacttggcctgCtgatggggagttgcagggca	16	8	0	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr21:31654953C>A	uc002ynv.2	-	1	324	c.298G>T	c.(298-300)GCA>TCA	p.A100S		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	100						keratin filament	structural molecule activity				0						ACTTGGCCTGCTGATGGGGAG	0.403													A	31654953	C	A	31654953	3	1	219	1	0	0	0	0	1	0	0	0	8542	797	28	5	470	5	KRTAP24-1	21	31654953	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08		31654953	16474942	182	113994											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709591	31709591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccttgaggcttgcaggTtggcagctctgggctacaaa	12	10	1	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr21:31709591T>G	uc002ynx.1	-	1	422	c.396A>C	c.(394-396)CAA>CAC	p.Q132H		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	132						intermediate filament				ovary(2)	2						GGCTTGCAGGTTGGCAGCTCT	0.493													G	31709591	T	G	31709591	3	3	219	1	0	0	0	0	1	0	0	0	8544	1722	60	5	231	5	KRTAP27-1	21	31709591	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	54638	31709591	16420304	183	113995											
TIAM1	7074	broad.mit.edu	37	chr21	32624274	32624274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggcctcctccaggctctCgctgttggtggtgctcatct	12	15	3	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr21:32624274C>T	uc002yow.1	-	6	1667	c.1195G>A	c.(1195-1197)GAG>AAG	p.E399K	TIAM1_uc011adk.1_Missense_Mutation_p.E399K|TIAM1_uc011adl.1_Missense_Mutation_p.E399K|TIAM1_uc002yox.1_Missense_Mutation_p.E7K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	399					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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCCAGGCTCTCGCTGTTGGTG	0.692													T	32624274	C	T	32624274	3	4	219	1	0	0	0	0	1	0	0	0	15887	893	31	1	3676	1	TIAM1	21	32624274	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	914683	32624274	15505621	184	113996											
HLCS	3141	broad.mit.edu	37	chr21	38128941	38128941	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcacagtcacgactctggcGatgagataatcggctcttaa	10	10	3	1	rs150263699	byFrequency	TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr21:38128941G>T	uc010gnb.2	-	10	3112	c.1911C>A	c.(1909-1911)ATC>ATA	p.I637I	HLCS_uc002yvs.2_Silent_p.I637I	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	637					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			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGACTCTGGCGATGAGATAAT	0.473													T	38128941	G	T	38128941	2	4	219	1	0	0	0	0	0	0	0	1	7213	1048	37	5		5	HLCS	21	38128941	Silent	SNP	G	TCGA-D7-8572-01A-11D-2340-08	5504667	38128941	10000954	185	113997											
BRWD1	54014	broad.mit.edu	37	chr21	40590130	40590130	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaaagatcggttggatAagctactacagtacagtact	10	6	0	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr21:40590130A>T	uc002yxk.1	-	31	3746	c.3607T>A	c.(3607-3609)TAT>AAT	p.Y1203N	BRWD1_uc010goc.1_Intron|BRWD1_uc002yxl.2_Missense_Mutation_p.Y1203N|BRWD1_uc010god.1_Missense_Mutation_p.Y169N	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1203	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCGGTTGGATAAGCTACTACA	0.368													T	40590130	A	T	40590130	3	4	219	1	0	0	0	0	1	0	0	0	1525	362	13	5	3642	5	BRWD1	21	40590130	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08	2461189	40590130	7539765	186	113998											
U2AF1	7307	broad.mit.edu	37	chr21	44514835	44514835	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcggcgtggatcggctGtccattaaaccaacggttat	11	11	0	0			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr21:44514835G>A	uc002zda.1	-	6	496	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	U2AF1_uc002zcy.1_Nonsense_Mutation_p.Q65*|U2AF1_uc002zcz.1_Nonsense_Mutation_p.Q65*|U2AF1_uc002zdb.1_Nonsense_Mutation_p.Q138*|U2AF1_uc010gpi.1_Nonsense_Mutation_p.Q138*	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	138	RRM.				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				0						TGGATCGGCTGTCCATTAAAC	0.532													A	44514835	G	A	44514835	4	1	219	1	0	0	0	0	0	1	0	0	16818	1386	48	4	322	4	U2AF1	21	44514835	Nonsense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	3924705	44514835	3615060	187	113999											
SLC7A4	6545	broad.mit.edu	37	chr22	21385491	21385491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatgaagagaatgacaAgcaggctgatggccgagaag	14	6	0	6			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr22:21385491A>C	uc002zud.2	-	2	679	c.611T>G	c.(610-612)CTT>CGT	p.L204R	SLC7A4_uc002zue.2_Missense_Mutation_p.L204R	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	204	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGAATGACAAGCAGGCTGAT	0.602													C	21385491	A	C	21385491	3	2	219	1	0	0	0	0	1	0	0	0	14699	72	3	5	1312	5	SLC7A4	22	21385491	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08		21385491	29919075	188	114000											
DDT	1652	broad.mit.edu	37	chr22	24313812	24313812	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaaaaagcggataagtatCcttcaggagacagagaaaaa	12	5	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr22:24313812C>T	uc002zyz.3	-	3	362	c.285G>A	c.(283-285)CGG>CGA	p.R95R	DDT_uc011ajf.1_Intron|DDTL_uc002zyy.3_3'UTR|DDT_uc002zza.3_Silent_p.R95R	NM_001084392	NP_001077861	P30046	DOPD_HUMAN	D-dopachrome tautomerase	95					melanin biosynthetic process	cytoplasm	D-dopachrome decarboxylase activity|dopachrome isomerase activity|protein binding				0						GGATAAGTATCCTTCAGGAGA	0.507													T	24313812	C	T	24313812	2	4	219	1	0	0	0	0	0	0	0	1	4339	869	30	4		4	DDT	22	24313812	Silent	SNP	C	TCGA-D7-8572-01A-11D-2340-08	2928321	24313812	26990754	189	114001											
GRAP2	9402	broad.mit.edu	37	chr22	40365500	40365500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgcggccctcatgcatcGgagacacacagacccagtgc	11	14	1	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chr22:40365500G>A	uc003ayh.1	+	7	1039	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R233Q|GRAP2_uc011aon.1_Missense_Mutation_p.R193Q|GRAP2_uc010gya.1_Missense_Mutation_p.R259Q|GRAP2_uc011aoo.1_Missense_Mutation_p.R187Q|GRAP2_uc011aop.1_Missense_Mutation_p.R219Q|GRAP2_uc011aoq.1_Missense_Mutation_p.R146Q|GRAP2_uc003ayj.1_Missense_Mutation_p.R259Q	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	259					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CTCATGCATCGGAGACACACA	0.572													A	40365500	G	A	40365500	3	1	219	1	0	0	0	0	1	0	0	0	6754	1116	39	1	798	1	GRAP2	22	40365500	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	16051688	40365500	10939066	190	114002											
IL1RAPL1	11141	broad.mit.edu	37	chrX	28807512	28807512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatacgctacttttactcagAgtttgaaggttgtgaccaaa	8	7	1	3			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chrX:28807512A>G	uc004dby.2	+	2	560	c.52A>G	c.(52-54)AGT>GGT	p.S18G		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	18					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			ovary(3)|lung(1)|pancreas(1)	5						TTTTACTCAGAGTTTGAAGGT	0.378													G	28807512	A	G	28807512	3	3	219	1	0	0	0	0	1	0	0	0	7661	304	11	3	54	3	IL1RAPL1	23	28807512	Missense_Mutation	SNP	A	TCGA-D7-8572-01A-11D-2340-08		28807512	126463048	191	114003											
WNK3	65267	broad.mit.edu	37	chrX	54263436	54263436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttctgattcatcatcactGctcattggggaagatggcga	10	8	5	2			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chrX:54263436G>T	uc004dtd.1	-	20	4861	c.4422C>A	c.(4420-4422)AGC>AGA	p.S1474R	WNK3_uc004dtc.1_Missense_Mutation_p.S1521R	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1474					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			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CATCATCACTGCTCATTGGGG	0.423													T	54263436	G	T	54263436	3	4	219	1	0	0	0	0	1	0	0	0	17376	1310	46	5	859	5	WNK3	23	54263436	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	25455924	54263436	101007124	192	114004											
ZXDA	7789	broad.mit.edu	37	chrX	57934628	57934628	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtagttctgagacacTgttttcacaaagggtgctcg	11	8	3	1			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chrX:57934628T>G	uc004dve.2	-	1	2440	c.2227A>C	c.(2227-2229)AGT>CGT	p.S743R		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	743					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			ovary(1)	1						TCTGAGACACTGTTTTCACAA	0.498													G	57934628	T	G	57934628	3	3	219	1	0	0	0	0	1	0	0	0	18247	1580	55	5	176	5	ZXDA	23	57934628	Missense_Mutation	SNP	T	TCGA-D7-8572-01A-11D-2340-08	3671192	57934628	97335932	193	114005											
CYLC1	1538	broad.mit.edu	37	chrX	83129025	83129025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagataataaaaagtctGtcaagaatgatgaagagtct	9	4	3	6			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chrX:83129025G>A	uc004eei.1	+	4	1330	c.1309G>A	c.(1309-1311)GTC>ATC	p.V437I	CYLC1_uc004eeh.1_Missense_Mutation_p.V436I	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	437	5.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TAAAAAGTCTGTCAAGAATGA	0.348													A	83129025	G	A	83129025	3	1	219	1	0	0	0	0	1	0	0	0	4141	1377	48	4	1323	4	CYLC1	23	83129025	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	25194397	83129025	72141535	194	114006											
KLHL4	56062	broad.mit.edu	37	chrX	86880644	86880644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaccagttccatgtttaCtggtgatcttgagtgtcaga	10	7	2	4			TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chrX:86880644C>A	uc004efb.2	+	6	1354	c.1172C>A	c.(1171-1173)ACT>AAT	p.T391N	KLHL4_uc004efa.2_Missense_Mutation_p.T391N	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	391						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TCCATGTTTACTGGTGATCTT	0.408													A	86880644	C	A	86880644	3	1	219	1	0	0	0	0	1	0	0	0	8391	565	20	5	1194	5	KLHL4	23	86880644	Missense_Mutation	SNP	C	TCGA-D7-8572-01A-11D-2340-08	3751619	86880644	68389916	195	114007											
CD40LG	959	broad.mit.edu	37	chrX	135741443	135741443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagttccgccaaaccttgcGggcaacaatccattcacttg	7	14	1	0	rs148594123	byFrequency	TCGA-D7-8572-01A-11D-2340-08	TCGA-D7-8572-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	584e46d6-280d-4aaa-b03e-5fd7ece08d77	a0e40acf-0a3e-4b8d-b504-22a3001b1191	g.chrX:135741443G>A	uc004faa.2	+	5	727	c.655G>A	c.(655-657)GGG>AGG	p.G219R	CD40LG_uc010nsd.2_Missense_Mutation_p.G198R	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	219	Extracellular (Potential).		G -> R.		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			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CAAACCTTGCGGGCAACAATC	0.498									Immune_Deficiency_with_Hyper-IgM				A	135741443	G	A	135741443	3	1	219	1	0	0	0	0	1	0	0	0	3016	1116	39	1	673	1	CD40LG	23	135741443	Missense_Mutation	SNP	G	TCGA-D7-8572-01A-11D-2340-08	48860799	135741443	19529117	196	114008											
LRRC41	10489	broad.mit.edu	37	chr1	46746843	46746843	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggctagggggccctgcattCcctggcacaccagggttgtc	14	13	0	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:46746843C>G	uc001cpn.2	-	5	1754	c.1710G>C	c.(1708-1710)GGG>GGC	p.G570G	LRRC41_uc010omb.1_Silent_p.G570G	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	570										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCTGCATTCCCTGGCACAC	0.577													G	46746843	C	G	46746843	2	3	220	1	0	0	0	0	0	0	0	1	8999	842	30	5		5	LRRC41	1	46746843	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08		46746843	202503778	1	114009											
GBP4	115361	broad.mit.edu	37	chr1	89657071	89657071	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggcacttcgtccatAtgatttaaatattgcttgtc	6	9	2	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:89657071A>G	uc001dnb.2	-	6	905	c.789T>C	c.(787-789)CAT>CAC	p.H263H		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	263						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTTCGTCCATATGATTTAAAT	0.398													G	89657071	A	G	89657071	2	3	220	1	0	0	0	0	0	0	0	1	6276	446	16	3		3	GBP4	1	89657071	Silent	SNP	A	TCGA-D7-8573-01A-11D-2340-08	42910228	89657071	159593550	2	114010											
PKLR	5313	broad.mit.edu	37	chr1	155263039	155263039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccacagcaccaatggcGgtgacctcagtgggatcacg	12	14	2	1	rs146708702	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:155263039G>A	uc001fkb.3	-	9	1404	c.1365C>T	c.(1363-1365)ACC>ACT	p.T455T	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.T424T	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	455					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CACCAATGGCGGTGACCTCAG	0.607													A	155263039	G	A	155263039	2	1	220	1	0	0	0	0	0	0	0	1	11976	1103	39	1		1	PKLR	1	155263039	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08	65605968	155263039	93987582	3	114011											
HHIPL2	79802	broad.mit.edu	37	chr1	222696035	222696035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcctcttgccctggcGgacgtggggccccactctgg	12	17	2	0	rs144597197	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:222696035G>A	uc001hnh.1	-	9	2141	c.2083C>T	c.(2083-2085)CGC>TGC	p.R695C		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	695					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TTGCCCTGGCGGACGTGGGGC	0.562													A	222696035	G	A	222696035	3	1	220	1	0	0	0	0	1	0	0	0	7094	1116	39	1	95	1	HHIPL2	1	222696035	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	67432996	222696035	26554586	4	114012											
WNT9A	7483	broad.mit.edu	37	chr1	228109319	228109319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggccttgtcaccaccCggctctgtgtgttatggccg	14	13	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:228109319C>A	uc001hri.2	-	4	1086	c.998G>T	c.(997-999)CGG>CTG	p.R333L		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	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			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				TGTCACCACCCGGCTCTGTGT	0.652													A	228109319	C	A	228109319	3	1	220	1	0	0	0	0	1	0	0	0	17395	652	23	5	103	5	WNT9A	1	228109319	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	5413284	228109319	21141302	5	114013											
AKT3	10000	broad.mit.edu	37	chr1	243727110	243727110	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagtccaaaatctgtaAtttttatgtggccatctttg	7	7	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:243727110A>C	uc001iab.1	-	9	941	c.860T>G	c.(859-861)ATT>AGT	p.I287S	AKT3_uc001hzz.1_Missense_Mutation_p.I287S	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	287	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)			AAAATCTGTAATTTTTATGTG	0.393													C	243727110	A	C	243727110	3	2	220	1	0	0	0	0	1	0	0	0	481	101	4	5	647	5	AKT3	1	243727110	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	15617791	243727110	5523511	6	114014											
ADAM17	6868	broad.mit.edu	37	chr2	9676834	9676834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccatactaaccaaccacGtgtccagtgaagaagtcctg	8	13	0	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:9676834G>A	uc002qzu.2	-	3	537	c.354C>T	c.(352-354)CAC>CAT	p.H118H	ADAM17_uc010ewy.2_Silent_p.H118H|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Silent_p.H118H|ADAM17_uc002qzv.2_Silent_p.H118H	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	118					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AACCAACCACGTGTCCAGTGA	0.428													A	9676834	G	A	9676834	2	1	220	1	0	0	0	0	0	0	0	1	238	1136	40	1		1	ADAM17	2	9676834	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08		9676834	233522539	7	114015											
SOS1	6654	broad.mit.edu	37	chr2	39213093	39213093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgctttgtcgtggaggaaCaggcggcccagcaatggaat	15	8	0	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:39213093C>A	uc002rrk.3	-	23	3915	c.3874G>T	c.(3874-3876)GTT>TTT	p.V1292F	SOS1_uc002rrj.3_Missense_Mutation_p.V891F	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1292					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			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				CGTGGAGGAACAGGCGGCCCA	0.512									Noonan_syndrome				A	39213093	C	A	39213093	3	1	220	1	0	0	0	0	1	0	0	0	14936	478	17	5	131	5	SOS1	2	39213093	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	29536259	39213093	203986280	8	114016											
PRPF40A	55660	broad.mit.edu	37	chr2	153572629	153572629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggggcataatgcatgccAgggtgccccatctgaaaaac	11	10	1	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:153572629A>G	uc002tyi.2	-	2	190	c.177T>C	c.(175-177)CCT>CCC	p.P59P	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|PRPF40A_uc002tyh.3_Silent_p.P32P|PRPF40A_uc010zcd.1_Silent_p.P32P|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.P59P	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	59					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						AATGCATGCCAGGGTGCCCCA	0.443													G	153572629	A	G	153572629	2	3	220	1	0	0	0	0	0	0	0	1	12571	175	7	3		3	PRPF40A	2	153572629	Silent	SNP	A	TCGA-D7-8573-01A-11D-2340-08	114359536	153572629	89626744	9	114017											
ITGA6	3655	broad.mit.edu	37	chr2	173335747	173335747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacactttttttgacatgaAcatctttgaagatgggcctt	7	7	1	4			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:173335747A>C	uc002uhp.1	+	5	892	c.689A>C	c.(688-690)AAC>ACC	p.N230T	ITGA6_uc010fqk.1_Missense_Mutation_p.N116T|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Missense_Mutation_p.N230T|ITGA6_uc010fql.2_RNA	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	230	Extracellular (Potential).				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			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTGACATGAACATCTTTGAA	0.373													C	173335747	A	C	173335747	3	2	220	1	0	0	0	0	1	0	0	0	7880	43	2	5	707	5	ITGA6	2	173335747	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	19763118	173335747	69863626	10	114018											
DOCK10	55619	broad.mit.edu	37	chr2	225714253	225714253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatccggattctgagagtGgtgcagaactgctgtgtagg	15	6	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:225714253G>A	uc010fwz.1	-	19	2445	c.2206C>T	c.(2206-2208)CAC>TAC	p.H736Y	DOCK10_uc002vob.2_Missense_Mutation_p.H730Y	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	736	DHR-1.						GTP binding			ovary(2)	2		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)		TTCTGAGAGTGGTGCAGAACT	0.483													A	225714253	G	A	225714253	3	1	220	1	0	0	0	0	1	0	0	0	4685	1348	47	4	4506	4	DOCK10	2	225714253	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	52378506	225714253	17485120	11	114019											
COL6A3	1293	broad.mit.edu	37	chr2	238303388	238303388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgctatttcttttaacGctccttcatctgcatcctca	3	14	4	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:238303388G>A	uc002vwl.2	-	3	836	c.551C>T	c.(550-552)GCG>GTG	p.A184V	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.A184V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	184	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		TTCTTTTAACGCTCCTTCATC	0.438													A	238303388	G	A	238303388	3	1	220	1	0	0	0	0	1	0	0	0	3701	1087	38	1	9197	1	COL6A3	2	238303388	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	12589135	238303388	4895985	12	114020											
TMPPE	643853	broad.mit.edu	37	chr3	33135527	33135527	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggagccaatgagcaagagcGagttgacaaacagggcaagc	15	8	0	3			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:33135527G>C	uc003cfk.2	-	2	352	c.161C>G	c.(160-162)TCG>TGG	p.S54W	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	54	Helical; (Potential).					integral to membrane	metal ion binding				0						GAGCAAGAGCGAGTTGACAAA	0.572													C	33135527	G	C	33135527	3	2	220	1	0	0	0	0	1	0	0	0	16235	1059	37	5	1204	5	TMPPE	3	33135527	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08		33135527	164886903	13	114021											
CTNNB1	1499	broad.mit.edu	37	chr3	41266123	41266143	+	In_Frame_Del	DEL	TACCACAGCTCCTTCTCTGAG	TACCACAGCTCCTTCTCTGAG	-													ggaatccattctggtgccacTaccacagctccttctctgag					rs121913412		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:41266122_41266142CTACCACAGCTCCTTCTCTGAG>C	uc010hia.1	+	3	275_295	c.119_139CTACCACAGCTCCTTCTCTGAG>C	c.(118-141)actaccacagctccttctctgagt>aCgt	p.TTAPSLS41del	CTNNB1_uc003ckq.2_In_Frame_Del_p.TTAPSLS41del|CTNNB1_uc003ckp.2_In_Frame_Del_p.TTAPSLS41del|CTNNB1_uc003ckr.2_In_Frame_Del_p.TTAPSLS41del|CTNNB1_uc011azf.1_In_Frame_Del_p.TTAPSLS34del|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		Schwann cell proliferation|T cell differentiation in thymus|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|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 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 T cell proliferation|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|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|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|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(1172)|p.S45F(830)|p.S45P(362)|p.T41I(152)|p.S45del(138)|p.A5_A80del(119)|p.S45Y(43)|p.S45C(42)|p.S45A(23)|p.T40I(23)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.P44A(14)|p.T41N(13)|p.T41P(13)|p.T41S(12)|p.T42R(10)|p.Q28_H134del(10)|p.A43V(10)|p.H24_S47del(9)|p.A43T(8)|p.P44S(8)|p.W25_I140del(7)|p.T42I(6)|p.L46L(6)|p.T42fs*7(6)|p.P44L(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.S45_S47>C(4)|p.D32_S47del(4)|p.P44_S45del(4)|p.T41T(4)|p.T40T(4)|p.A43P(4)|p.A5_Y142>D(4)|p.T42_A43insSS(4)|p.?(4)|p.L10_N141del(4)|p.T40S(3)|p.S47N(3)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.S47T(2)|p.Y30_A97del(2)|p.T42S(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.P44del(2)|p.V22_L139>V(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.L46_S47del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45fs*2(2)|p.T42T(2)|p.S45E(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.S45T(2)|p.S45S(2)|p.T42A(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.L46V(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.P44_S45insAP(2)|p.S45_G48del(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.Y30_T40del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.A43del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.S47C(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S47G(2)|p.I35_T41del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.A43_E53del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.V22_A97del(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.T40A(1)|p.S47R(1)|p.E9_I140del(1)|p.A20_Q72del(1)|p.S45_E54del(1)|p.S47I(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.P44_S45insGATTTAP(1)|p.M1_T42del(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)	TCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGG	0.498	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)|T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				-	41266143	TACCACAGCTCCTTCTCTGAG	-	41266123	7	5	220	1	0	1	0	1	0	0	0	0	4016	1509	53	0	126	0	CTNNB1	3	41266123	In_Frame_Del	DEL	TACCACAGCTCCTTCTCTGAG	TCGA-D7-8573-01A-11D-2340-08	8130596	41266123	156756307	14	114022											
HPS3	84343	broad.mit.edu	37	chr3	148889990	148889990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatcttctctattgcagtcGaaagaaaccattgacttaaa	5	8	2	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:148889990G>A	uc003ewu.1	+	17	3136	c.2996G>A	c.(2995-2997)CGA>CAA	p.R999Q	CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.R834Q|HPS3_uc003ewv.1_RNA	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	999						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATTGCAGTCGAAAGAAACCA	0.348									Hermansky-Pudlak_syndrome				A	148889990	G	A	148889990	3	1	220	1	0	0	0	0	1	0	0	0	7340	1058	37	1	3062	1	HPS3	3	148889990	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	107623867	148889990	49132440	15	114023											
GPR149	344758	broad.mit.edu	37	chr3	154139263	154139263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatagattgaattcaaaGccttttctcttgactgagta	7	6	2	5			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:154139263G>A	uc003faa.2	-	3	1288	c.1188C>T	c.(1186-1188)GGC>GGT	p.G396G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	396	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGAATTCAAAGCCTTTTCTCT	0.279													A	154139263	G	A	154139263	2	1	220	1	0	0	0	0	0	0	0	1	6654	958	34	2		2	GPR149	3	154139263	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08	5249273	154139263	43883167	16	114024											
SLC26A1	10861	broad.mit.edu	37	chr4	983161	983161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaactctgtggcatcctcGtagaaggccgtgtccccgat	11	13	1	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:983161G>A	uc003gcb.2	-	4	1944	c.1566C>T	c.(1564-1566)TAC>TAT	p.Y522Y	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Silent_p.Y522Y	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	522						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCATCCTCGTAGAAGGCCG	0.687													A	983161	G	A	983161	2	1	220	1	0	0	0	0	0	0	0	1	14514	1140	40	1		1	SLC26A1	4	983161	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08		983161	190171115	17	114025											
LETM1	3954	broad.mit.edu	37	chr4	1843118	1843118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggccgttgaggatgcGccagagcatgcgtgccgcga	17	11	0	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:1843118G>A	uc003gdv.2	-	3	847	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Missense_Mutation_p.R184C	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	184	Mitochondrial intermembrane (Potential).|LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTGAGGATGCGCCAGAGCATG	0.527													A	1843118	G	A	1843118	3	1	220	1	0	0	0	0	1	0	0	0	8734	1087	38	1	1717	1	LETM1	4	1843118	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	859957	1843118	189311158	18	114026											
WDFY3	23001	broad.mit.edu	37	chr4	85701357	85701357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatataacccttccacAtcagaggccatggccaccag	8	15	1	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:85701357A>G	uc003hpd.2	-	26	4677	c.4269T>C	c.(4267-4269)GAT>GAC	p.D1423D		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1423						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCCTTCCACATCAGAGGCCA	0.507													G	85701357	A	G	85701357	2	3	220	1	0	0	0	0	0	0	0	1	17267	214	8	3		3	WDFY3	4	85701357	Silent	SNP	A	TCGA-D7-8573-01A-11D-2340-08	83858239	85701357	105452919	19	114027											
EGF	1950	broad.mit.edu	37	chr4	110882065	110882065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcatggctgtactcttgGgtgtaaaaacacccctggat	10	9	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:110882065G>A	uc003hzy.3	+	7	1561	c.1109G>A	c.(1108-1110)GGG>GAG	p.G370E	EGF_uc011cfu.1_Missense_Mutation_p.G328E|EGF_uc011cfv.1_Missense_Mutation_p.G370E	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	370	EGF-like 2; calcium-binding (Potential).|Extracellular (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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGTACTCTTGGGTGTAAAAAC	0.393													A	110882065	G	A	110882065	3	1	220	1	0	0	0	0	1	0	0	0	4962	1232	43	4	1135	4	EGF	4	110882065	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	25180708	110882065	80272211	20	114028											
DCHS2	54798	broad.mit.edu	37	chr4	155254019	155254019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaggcgaggctgcacgcTgggggccaagtgggtgcgcc	19	10	0	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:155254019T>C	uc003inw.2	-	9	1844	c.1844A>G	c.(1843-1845)CAG>CGG	p.Q615R	DCHS2_uc003inx.2_Missense_Mutation_p.Q1114R	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	615	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTGCACGCTGGGGGCCAAG	0.542													C	155254019	T	C	155254019	3	2	220	1	0	0	0	0	1	0	0	0	4288	1580	55	3	7070	3	DCHS2	4	155254019	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	44371954	155254019	35900257	21	114029											
SLC45A2	51151	broad.mit.edu	37	chr5	33951681	33951681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataaagtgaggaaaacacGgagttgatgcacaagcccca	11	8	0	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:33951681G>A	uc003jid.2	-	5	1226	c.1134C>T	c.(1132-1134)TCC>TCT	p.S378S	SLC45A2_uc003jie.2_Silent_p.S378S|SLC45A2_uc003jif.3_3'UTR|SLC45A2_uc011coe.1_3'UTR	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	378	Helical; Name=8; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AGGAAAACACGGAGTTGATGC	0.433													A	33951681	G	A	33951681	2	1	220	1	0	0	0	0	0	0	0	1	14641	1103	39	1		1	SLC45A2	5	33951681	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08		33951681	146963579	22	114030											
TMEM171	134285	broad.mit.edu	37	chr5	72419284	72419284	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttctgcttctttgtcttCggcgccgtcttgttgtgtgt	10	10	5	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:72419284C>T	uc003kcm.2	+	2	288	c.84C>T	c.(82-84)TTC>TTT	p.F28F	TMEM171_uc003kcn.3_Silent_p.F28F	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	28	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTTTGTCTTCGGCGCCGTCT	0.577													T	72419284	C	T	72419284	2	4	220	1	0	0	0	0	0	0	0	1	16085	883	31	1		1	TMEM171	5	72419284	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08	38467603	72419284	108495976	23	114031											
PCDHB10	56126	broad.mit.edu	37	chr5	140573784	140573784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgctggtgctggaCgccaacgacaactcgccctt	13	14	0	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:140573784C>T	uc003lix.2	+	1	1833	c.1659C>T	c.(1657-1659)GAC>GAT	p.D553D		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	553	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.716													T	140573784	C	T	140573784	2	4	220	1	0	0	0	0	0	0	0	1	11535	535	19	1		1	PCDHB10	5	140573784	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08	68154500	140573784	40341476	24	114032											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736646	140736646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcacacaggcgaggtgCgcaccgcacgggccctgctg	16	15	0	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:140736646C>T	uc003ljq.1	+	1	1879	c.1879C>T	c.(1879-1881)CGC>TGC	p.R627C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R627C	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	627	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGAGGTGCGCACCGCACG	0.632													T	140736646	C	T	140736646	3	4	220	1	0	0	0	0	1	0	0	0	11556	768	27	1	1881	1	PCDHGA4	5	140736646	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	162862	140736646	40178614	25	114033											
PDGFRB	5159	broad.mit.edu	37	chr5	149505106	149505106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcagagctcacagacTcaatcaccttccatcggatc	8	15	4	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:149505106T>G	uc003lro.2	-	12	2178	c.1709A>C	c.(1708-1710)GAG>GCG	p.E570A	PDGFRB_uc010jhd.2_Missense_Mutation_p.E409A	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	570	Cytoplasmic (Potential).				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	GCTCACAGACTCAATCACCTT	0.577			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								G	149505106	T	G	149505106	3	3	220	1	0	0	0	0	1	0	0	0	11662	1551	54	5	1659	5	PDGFRB	5	149505106	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	8768460	149505106	31410154	26	114034											
C5orf40	408263	broad.mit.edu	37	chr5	156770404	156770404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctcctcgtggtggaaGctgtagcgaagatagccaga	12	10	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:156770404G>A	uc003lwu.2	-	2	329	c.141C>T	c.(139-141)AGC>AGT	p.S47S	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	47	Fibronectin type-III.					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTGGTGGAAGCTGTAGCGAA	0.537													A	156770404	G	A	156770404	2	1	220	1	0	0	0	0	0	0	0	1	2299	962	34	2		2	C5orf40	5	156770404	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08	7265298	156770404	24144856	27	114035											
GABRA1	2554	broad.mit.edu	37	chr5	161300176	161300176	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggatgaaaggttaaaAtttaaaggacctatgacagt	11	3	0	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:161300176A>C	uc010jiw.2	+	6	777	c.309A>C	c.(307-309)AAA>AAC	p.K103N	GABRA1_uc010jix.2_Missense_Mutation_p.K103N|GABRA1_uc010jiy.2_Missense_Mutation_p.K103N|GABRA1_uc003lyx.3_Missense_Mutation_p.K103N|GABRA1_uc010jiz.2_Missense_Mutation_p.K103N|GABRA1_uc010jja.2_Missense_Mutation_p.K103N|GABRA1_uc010jjb.2_Missense_Mutation_p.K103N	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	103	Extracellular (Probable).				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			ovary(2)|pancreas(1)	3	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)	AAAGGTTAAAATTTAAAGGAC	0.383													C	161300176	A	C	161300176	3	2	220	1	0	0	0	0	1	0	0	0	6160	98	4	5	323	5	GABRA1	5	161300176	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	4529772	161300176	19615084	28	114036											
FOXI1	2299	broad.mit.edu	37	chr5	169535494	169535495	+	Missense_Mutation	DNP	AC	AC	CA													cggtgggggtgactgggcgaAccccatgcccaccaacatgc							TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:169535494_169535495AC>CA	uc003mai.3	+	2	1061_1062	c.1016_1017AC>CA	c.(1015-1017)AAC>ACA	p.N339T	FOXI1_uc003maj.3_Missense_Mutation_p.N244T	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	339					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(1)	4	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)			GACTGGGCGAACCCCATGCCCA	0.579									Pendred_syndrome				CA	169535495	AC	CA	169535494	3	2	220	1	0	0	0	0	1	0	0	0	6009	43	2	5	1022	5	FOXI1	5	169535494	Missense_Mutation	DNP	AC	TCGA-D7-8573-01A-11D-2340-08	8235318	169535494	11379766	29	114037											
SLC17A1	6568	broad.mit.edu	37	chr6	25813353	25813353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaggatgtgatgtattcCttttcactgatgcttataca	10	6	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:25813353C>T	uc003nfh.3	-	7	821	c.705G>A	c.(703-705)AAG>AAA	p.K235K	SLC17A1_uc011djy.1_Intron|SLC17A1_uc010jqb.1_Silent_p.K233K|SLC17A1_uc010jqc.1_Silent_p.K233K	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	235					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						TGATGTATTCCTTTTCACTGA	0.448													T	25813353	C	T	25813353	2	4	220	1	0	0	0	0	0	0	0	1	14416	680	24	4		4	SLC17A1	6	25813353	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08		25813353	145301714	30	114038											
BAT2	7916	broad.mit.edu	37	chr6	31605358	31605358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggttgcccccacccCgctgagggagttcctcttgc	12	16	1	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:31605358C>T	uc003nvb.3	+	31	6718	c.6469C>T	c.(6469-6471)CGC>TGC	p.R2157C	BAT2_uc003nvc.3_Missense_Mutation_p.R2157C	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	2157						cytoplasm|nucleus	protein binding				0						GCCCCCACCCCGCTGAGGGAG	0.662													T	31605358	C	T	31605358	3	4	220	1	0	0	0	0	1	0	0	0	1319	652	23	1	6587	1	BAT2	6	31605358	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	5792005	31605358	139509709	31	114039											
MCM3	4172	broad.mit.edu	37	chr6	52137104	52137104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggcactcaccctggCggtgtctgagctcatgctat	10	16	3	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:52137104C>T	uc003pan.1	-	12	1932	c.1822G>A	c.(1822-1824)GCC>ACC	p.A608T	MCM3_uc011dwu.1_Missense_Mutation_p.A562T	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	608					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			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					CTCACCCTGGCGGTGTCTGAG	0.552													T	52137104	C	T	52137104	3	4	220	1	0	0	0	0	1	0	0	0	9387	768	27	1	628	1	MCM3	6	52137104	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	20531746	52137104	118977963	32	114040											
BAI3	577	broad.mit.edu	37	chr6	70049284	70049284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgacgtggatgtctgCggttctggccatgacagata	14	8	2	3			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:70049284C>T	uc003pev.3	+	26	3795	c.3347C>T	c.(3346-3348)GCG>GTG	p.A1116V	BAI3_uc010kak.2_Missense_Mutation_p.A1116V|BAI3_uc011dxx.1_Missense_Mutation_p.A322V|BAI3_uc003pex.1_Missense_Mutation_p.A246V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1116	Helical; Name=6; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGGATGTCTGCGGTTCTGGCC	0.443													T	70049284	C	T	70049284	3	4	220	1	0	0	0	0	1	0	0	0	1300	768	27	1	3441	1	BAI3	6	70049284	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	17912180	70049284	101065783	33	114041											
FILIP1	27145	broad.mit.edu	37	chr6	76023075	76023075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctggaaggatttccGtatgaatacagctggcgttt	10	8	1	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:76023075G>A	uc003pia.2	-	5	2846	c.2473C>T	c.(2473-2475)CGG>TGG	p.R825W	FILIP1_uc003phy.1_Missense_Mutation_p.R825W|FILIP1_uc003phz.2_Missense_Mutation_p.R726W|FILIP1_uc010kbe.2_Missense_Mutation_p.R828W|FILIP1_uc003pib.1_Missense_Mutation_p.R577W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	825										skin(3)|ovary(1)	4						AAGGATTTCCGTATGAATACA	0.463													A	76023075	G	A	76023075	3	1	220	1	0	0	0	0	1	0	0	0	5894	1144	40	1	1176	1	FILIP1	6	76023075	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	5973791	76023075	95091992	34	114042											
MDN1	23195	broad.mit.edu	37	chr6	90387382	90387382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttgagggttttttgaaCgggcccaagcaagacctttg	11	9	1	3	rs77256291	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:90387382C>T	uc003pnn.1	-	76	12562	c.12446G>A	c.(12445-12447)CGT>CAT	p.R4149H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4149					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		GTTTTTTGAACGGGCCCAAGC	0.463													T	90387382	C	T	90387382	3	4	220	1	0	0	0	0	1	0	0	0	9415	536	19	1	4452	1	MDN1	6	90387382	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	14364307	90387382	80727685	35	114043											
FUT9	10690	broad.mit.edu	37	chr6	96651315	96651315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggatgccatctcacaaCggaccgttcactgtacaaca	7	14	2	0	rs144101900		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:96651315C>T	uc003pop.3	+	3	625	c.284C>T	c.(283-285)ACG>ATG	p.T95M		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	95	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		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)		CATCTCACAACGGACCGTTCA	0.478													T	96651315	C	T	96651315	3	4	220	1	0	0	0	0	1	0	0	0	6111	536	19	1	286	1	FUT9	6	96651315	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	6263933	96651315	74463752	36	114044											
KIAA1244	57221	broad.mit.edu	37	chr6	138617959	138617959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgtaggagaagttaaatCcactcaagaccgaaaaagcg	9	9	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:138617959C>T	uc003qhu.2	+	21	3515	c.3515C>T	c.(3514-3516)TCC>TTC	p.S1172F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1172					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGTTAAATCCACTCAAGAC	0.502													T	138617959	C	T	138617959	3	4	220	1	0	0	0	0	1	0	0	0	8217	855	30	4	3597	4	KIAA1244	6	138617959	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	41966644	138617959	32497108	37	114045											
SHPRH	257218	broad.mit.edu	37	chr6	146214432	146214432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccaccaagagaacaTgagttgcttcaatgatagtt	10	8	1	3			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:146214432T>C	uc003qlf.2	-	28	5192	c.4793A>G	c.(4792-4794)CAT>CGT	p.H1598R	SHPRH_uc003qld.2_Missense_Mutation_p.H1602R|SHPRH_uc003qle.2_Missense_Mutation_p.H1602R	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1598	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAAGAGAACATGAGTTGCTTC	0.443													C	146214432	T	C	146214432	3	2	220	1	0	0	0	0	1	0	0	0	14291	1464	51	3	287	3	SHPRH	6	146214432	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	7596473	146214432	24900635	38	114046											
PDE10A	10846	broad.mit.edu	37	chr6	165809927	165809927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccggtaaatgcactctgAgtggcgaattctatgataca	9	9	2	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:165809927A>G	uc003qun.2	-	15	1511	c.1270T>C	c.(1270-1272)TCA>CCA	p.S424P	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.S354P|PDE10A_uc003quo.2_Missense_Mutation_p.S434P	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	424					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		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)	ATGCACTCTGAGTGGCGAATT	0.403													G	165809927	A	G	165809927	3	3	220	1	0	0	0	0	1	0	0	0	11630	304	11	3	1105	3	PDE10A	6	165809927	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	19595495	165809927	5305140	39	114047											
ZDHHC4	55146	broad.mit.edu	37	chr7	6623050	6623050	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttaaggaaaccagctcgaTccaagcactgcagtgagtgt	10	9	0	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:6623050T>A	uc003sqi.2	+	7	842	c.484T>A	c.(484-486)TCC>ACC	p.S162T	ZDHHC4_uc003sqg.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sql.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqh.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqj.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqk.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqm.2_Missense_Mutation_p.S162T	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	162	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACCAGCTCGATCCAAGCACTG	0.448													A	6623050	T	A	6623050	3	1	220	1	0	0	0	0	1	0	0	0	17614	1435	50	5	498	5	ZDHHC4	7	6623050	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08		6623050	152515613	40	114048											
SP8	221833	broad.mit.edu	37	chr7	20824781	20824781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgccggccgagcccacctCgcccgcagcacccaggcccg	13	22	0	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:20824781C>T	uc003suy.2	-	3	842	c.601G>A	c.(601-603)GAG>AAG	p.E201K	SP8_uc003suz.2_Missense_Mutation_p.E219K	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						GAGCCCACCTCGCCCGCAGCA	0.731													T	20824781	C	T	20824781	3	4	220	1	0	0	0	0	1	0	0	0	14970	893	31	1	875	1	SP8	7	20824781	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	14201731	20824781	138313882	41	114049											
ABCA13	154664	broad.mit.edu	37	chr7	48312083	48312083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaccacaaaaacaagaAgttgataaaattttgactca	5	7	2	4			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:48312083A>C	uc003toq.2	+	17	2845	c.2820A>C	c.(2818-2820)GAA>GAC	p.E940D	ABCA13_uc010kyr.2_Missense_Mutation_p.E443D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	940					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAAACAAGAAGTTGATAAAA	0.368													C	48312083	A	C	48312083	3	2	220	1	0	0	0	0	1	0	0	0	31	69	3	5	2715	5	ABCA13	7	48312083	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	27487302	48312083	110826580	42	114050											
PEG10	23089	broad.mit.edu	37	chr7	94293259	94293259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaccggccgtgctgccCgttgggcctcagcaaagctg	14	13	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:94293259C>T	uc011kie.1	+	2	836	c.619C>T	c.(619-621)CGT>TGT	p.R207C		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	131	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	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)			CCGTGCTGCCCGTTGGGCCTC	0.547													T	94293259	C	T	94293259	3	4	220	1	0	0	0	0	1	0	0	0	11719	652	23	1	625	1	PEG10	7	94293259	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	45981176	94293259	64845404	43	114051											
SLC37A3	84255	broad.mit.edu	37	chr7	140045671	140045671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaaaagaatactcacgaCtatacccgatgagggaccca	8	11	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:140045671C>T	uc003vvo.2	-	11	1290	c.1124G>A	c.(1123-1125)AGT>AAT	p.S375N	SLC37A3_uc003vvn.2_5'Flank|SLC37A3_uc003vvp.2_Intron|SLC37A3_uc010lnh.2_Missense_Mutation_p.S375N	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	375	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					ATACTCACGACTATACCCGAT	0.493													T	140045671	C	T	140045671	3	4	220	1	0	0	0	0	1	0	0	0	14599	565	20	4	529	4	SLC37A3	7	140045671	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	45752412	140045671	19092992	44	114052											
NOM1	64434	broad.mit.edu	37	chr7	156755738	156755738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggttctgagacgcagcttCgcgtctcctgggacagtgtc	13	12	2	1	rs138117452		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:156755738C>T	uc003wmy.2	+	6	1795	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	NOM1_uc010lqp.1_Missense_Mutation_p.R43C	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	594					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GACGCAGCTTCGCGTCTCCTG	0.562													T	156755738	C	T	156755738	3	4	220	1	0	0	0	0	1	0	0	0	10530	884	31	1	1802	1	NOM1	7	156755738	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	16710067	156755738	2382925	45	114053											
DENND3	22898	broad.mit.edu	37	chr8	142165949	142165949	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgattccttgttttctaggAagccgacggtttagttctga	10	7	2	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr8:142165949A>T	uc003yvy.2	+	8	1114	c.836A>T	c.(835-837)GAA>GTA	p.E279V	DENND3_uc010mep.2_Missense_Mutation_p.E292V|DENND3_uc003yvz.1_5'Flank	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	279	DENN.									ovary(1)	1	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)			GTTTTCTAGGAAGCCGACGGT	0.393													T	142165949	A	T	142165949	3	4	220	1	0	0	0	0	1	0	0	0	4432	260	9	5	862	5	DENND3	8	142165949	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08		142165949	4198073	46	114054											
CYC1	1537	broad.mit.edu	37	chr8	145150852	145150852	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggctctgcattcggctgtGagtgccagtgacctggagct	14	10	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr8:145150852G>C	uc003zaz.3	+	2	289	c.246G>C	c.(244-246)GTG>GTC	p.V82V	CYC1_uc003zay.2_Silent_p.V23V	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	82					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTCGGCTGTGAGTGCCAGTG	0.662											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	145150852	G	C	145150852	2	2	220	1	0	0	0	0	0	0	0	1	4135	1277	45	5		5	CYC1	8	145150852	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08	2984903	145150852	1213170	47	114055											
NPR2	4882	broad.mit.edu	37	chr9	35792588	35792588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgggccgggcactgccCgtggacctgcggtttgtcag	16	13	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:35792588C>T	uc003zyd.2	+	1	183	c.183C>T	c.(181-183)CCC>CCT	p.P61P	NPR2_uc010mlb.2_Silent_p.P61P	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	61	Extracellular (Potential).				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			ovary(2)|stomach(1)	3	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)	GGGCACTGCCCGTGGACCTGC	0.662													T	35792588	C	T	35792588	2	4	220	1	0	0	0	0	0	0	0	1	10595	639	23	1		1	NPR2	9	35792588	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08		35792588	105420843	48	114056											
TJP2	9414	broad.mit.edu	37	chr9	71852827	71852827	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgtggtcttattcggccCcatagctgatatagcaatgg	10	10	1	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:71852827C>G	uc004ahe.2	+	15	2413	c.2213C>G	c.(2212-2214)CCC>CGC	p.P738R	TJP2_uc011lrs.1_Missense_Mutation_p.P715R|TJP2_uc011lrt.1_Missense_Mutation_p.P715R|TJP2_uc004ahd.2_Missense_Mutation_p.P738R|TJP2_uc004ahf.2_Missense_Mutation_p.P738R|TJP2_uc011lru.1_Missense_Mutation_p.P742R|TJP2_uc011lrv.1_Missense_Mutation_p.P760R	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	738	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						TTATTCGGCCCCATAGCTGAT	0.363													G	71852827	C	G	71852827	3	3	220	1	0	0	0	0	1	0	0	0	15927	623	22	5	2428	5	TJP2	9	71852827	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	36060239	71852827	69360604	49	114057											
PCSK5	5125	broad.mit.edu	37	chr9	78711019	78711019	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctacgataagaaaatcGtacgtgacatgtgcatgccc	9	10	0	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:78711019G>A	uc004ajz.2	+	8	1645	c.1107_splice	c.e8+1	p.I369_splice	PCSK5_uc004ajy.2_Splice_Site_p.I369_splice|PCSK5_uc004aka.2_Splice_Site	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						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			ovary(2)|skin(1)	3						TAAGAAAATCGTACGTGACAT	0.398													A	78711019	G	A	78711019	5	1	220	1	0	0	0	0	0	0	1	0	11603	1159	40	1	1138	1	PCSK5	9	78711019	Splice_Site	SNP	G	TCGA-D7-8573-01A-11D-2340-08	6858192	78711019	62502412	50	114058											
PRUNE2	158471	broad.mit.edu	37	chr9	79322403	79322403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatccttcactttggtaActatttctacttggccatca	4	11	3	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:79322403A>G	uc010mpk.2	-	8	4911	c.4787T>C	c.(4786-4788)GTT>GCT	p.V1596A		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1596					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CACTTTGGTAACTATTTCTAC	0.373													G	79322403	A	G	79322403	3	3	220	1	0	0	0	0	1	0	0	0	12641	43	2	3	4527	3	PRUNE2	9	79322403	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	611384	79322403	61891028	51	114059											
XPA	7507	broad.mit.edu	37	chr9	100447318	100447318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcaagagacctcttcAcaatctacaacacaaaatcc	2	13	4	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:100447318A>G	uc004axr.3	-	5	677	c.560T>C	c.(559-561)GTG>GCG	p.V187A	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	187					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				AGACCTCTTCACAATCTACAA	0.338			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				G	100447318	A	G	100447318	3	3	220	1	0	0	0	0	1	0	0	0	17437	159	6	3	269	3	XPA	9	100447318	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	21124915	100447318	40766113	52	114060											
ZER1	10444	broad.mit.edu	37	chr9	131517699	131517699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcactcattgacgagcCggtcacagatctcgctgggc	11	14	4	2	rs148381372		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:131517699C>T	uc004bwa.1	-	2	579	c.146G>A	c.(145-147)CGG>CAG	p.R49Q		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	49					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						ATTGACGAGCCGGTCACAGAT	0.582													T	131517699	C	T	131517699	3	4	220	1	0	0	0	0	1	0	0	0	17622	652	23	1	2214	1	ZER1	9	131517699	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	31070381	131517699	9695732	53	114061											
NCOA4	8031	broad.mit.edu	37	chr10	51580946	51580946	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaacaaagatctagccaatCaagtctctgtgtgcctggag	9	9	3	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr10:51580946C>T	uc001jis.3	+	4	552	c.349C>T	c.(349-351)CAA>TAA	p.Q117*	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Nonsense_Mutation_p.Q133*|NCOA4_uc010qhd.1_Nonsense_Mutation_p.Q133*|NCOA4_uc010qhe.1_Intron|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Nonsense_Mutation_p.Q117*|NCOA4_uc009xoo.2_Nonsense_Mutation_p.Q117*	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	117					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TCTAGCCAATCAAGTCTCTGT	0.368			T	RET	papillary thyroid 								T	51580946	C	T	51580946	4	4	220	1	0	0	0	0	0	1	0	0	10231	827	29	4	411	4	NCOA4	10	51580946	Nonsense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08		51580946	83953801	54	114062											
ZNF143	7702	broad.mit.edu	37	chr11	9534124	9534124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaacaagttacactcatatCccaggatgggactcagcatg	8	11	3	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:9534124C>A	uc001mhr.2	+	13	1623	c.1505C>A	c.(1504-1506)TCC>TAC	p.S502Y	ZNF143_uc009yfu.2_Missense_Mutation_p.S501Y|ZNF143_uc010rby.1_Missense_Mutation_p.S471Y	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	502					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	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACACTCATATCCCAGGATGGG	0.458													A	9534124	C	A	9534124	3	1	220	1	0	0	0	0	1	0	0	0	17729	855	30	5	1551	5	ZNF143	11	9534124	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08		9534124	125472392	55	114063											
QSER1	79832	broad.mit.edu	37	chr11	32956285	32956285	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttagggggtgacgacAgtggtgtgtcaatgaaccca	13	8	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:32956285A>T	uc001mty.2	+	4	3361	c.3094A>T	c.(3094-3096)AGT>TGT	p.S1032C	QSER1_uc001mtz.1_Missense_Mutation_p.S793C|QSER1_uc001mua.2_Missense_Mutation_p.S537C	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1032										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GGGTGACGACAGTGGTGTGTC	0.428													T	32956285	A	T	32956285	3	4	220	1	0	0	0	0	1	0	0	0	12882	188	7	5	3100	5	QSER1	11	32956285	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	23422161	32956285	102050231	56	114064											
TYR	7299	broad.mit.edu	37	chr11	89028354	89028354	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaagtcctatttggaacaAgcgagtcggatctggtcatg	11	7	2	0	rs148363723		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:89028354A>C	uc001pcs.2	+	5	1492	c.1410A>C	c.(1408-1410)CAA>CAC	p.Q470H		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	470	Lumenal, melanosome (Potential).				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			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATTTGGAACAAGCGAGTCGGA	0.493									Oculocutaneous_Albinism				C	89028354	A	C	89028354	3	2	220	1	0	0	0	0	1	0	0	0	16810	69	3	5	1428	5	TYR	11	89028354	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	56072069	89028354	45978162	57	114065											
ATM	472	broad.mit.edu	37	chr11	108121429	108121429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttttttttttttttaggCtacagattgcaacccaatta	4	8	0	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:108121429C>A	uc001pkb.1	+	10	1622	c.1237C>A	c.(1237-1239)CTA>ATA	p.L413I	ATM_uc009yxr.1_Missense_Mutation_p.L413I	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	413					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		TTTTTTTAGGCTACAGATTGC	0.318			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)			A	108121429	C	A	108121429	3	1	220	1	0	0	0	0	1	0	0	0	1109	811	28	5	1271	5	ATM	11	108121429	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	19093075	108121429	26885087	58	114066											
NTM	50863	broad.mit.edu	37	chr11	132016184	132016184	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccttcaggtgcactaTtgacaaccgggtcacccggg	10	14	3	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:132016184T>G	uc001qgp.2	+	2	840	c.176T>G	c.(175-177)ATT>AGT	p.I59S	NTM_uc001qgm.2_Missense_Mutation_p.I59S|NTM_uc010sch.1_Missense_Mutation_p.I50S|NTM_uc010sci.1_Missense_Mutation_p.I59S|NTM_uc010scj.1_Missense_Mutation_p.I18S|NTM_uc001qgo.2_Missense_Mutation_p.I59S|NTM_uc001qgq.2_Missense_Mutation_p.I59S	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	59	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AGGTGCACTATTGACAACCGG	0.567													G	132016184	T	G	132016184	3	3	220	1	0	0	0	0	1	0	0	0	10699	1493	52	5	268	5	NTM	11	132016184	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	23894755	132016184	2990332	59	114067											
GABARAPL1	23710	broad.mit.edu	37	chr12	10373115	10373115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattcttctttgtcaacaaCaccatccctcccaccagtgc	3	16	3	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:10373115C>T	uc001qxs.2	+	3	486	c.246C>T	c.(244-246)AAC>AAT	p.N82N	GABARAPL1_uc010shb.1_Silent_p.N82N|GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	82						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						TTGTCAACAACACCATCCCTC	0.498													T	10373115	C	T	10373115	2	4	220	1	0	0	0	0	0	0	0	1	6153	477	17	4		4	GABARAPL1	12	10373115	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08		10373115	123478780	60	114068											
KLRC3	3823	broad.mit.edu	37	chr12	10588583	10588583	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggttcctctttgtttattCatctctgcagctgtgtgatg	9	8	3	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:10588583C>A	uc001qyh.2	-	1	10	c.3G>T	c.(1-3)ATG>ATT	p.M1I	KLRC2_uc010she.1_Missense_Mutation_p.M1I|KLRC2_uc001qyk.2_Missense_Mutation_p.M1I	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	1	Cytoplasmic (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|skin(1)	3						TTTGTTTATTCATCTCTGCAG	0.448													A	10588583	C	A	10588583	3	1	220	1	0	0	0	0	1	0	0	0	8417	826	29	5		5	KLRC3	12	10588583	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	215468	10588583	123263312	61	114069											
BICD1	636	broad.mit.edu	37	chr12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccttaatgccataatcCgggaccaaatcaagcatctg	6	12	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:32481286C>T	uc001rku.2	+	5	1978	c.1897C>T	c.(1897-1899)CGG>TGG	p.R633W	BICD1_uc001rkv.2_Missense_Mutation_p.R633W|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	633					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			large_intestine(1)|central_nervous_system(1)	2	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)			TGCCATAATCCGGGACCAAAT	0.483													T	32481286	C	T	32481286	3	4	220	1	0	0	0	0	1	0	0	0	1428	643	23	1	1915	1	BICD1	12	32481286	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	21892703	32481286	101370609	62	114070											
RPAP3	79657	broad.mit.edu	37	chr12	48091496	48091496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcaagctcatcaaggaTacggtcctaaaatcaaaaga	7	8	4	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:48091496T>C	uc001rpr.2	-	4	417	c.301A>G	c.(301-303)ATC>GTC	p.I101V	RPAP3_uc010slk.1_5'UTR|RPAP3_uc001rps.2_Missense_Mutation_p.I101V	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3 isoform	101							binding			ovary(1)	1	Lung SC(27;0.192)					TCATCAAGGATACGGTCCTAA	0.353													C	48091496	T	C	48091496	3	2	220	1	0	0	0	0	1	0	0	0	13543	1406	49	3	1752	3	RPAP3	12	48091496	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	15610210	48091496	85760399	63	114071											
RDH16	8608	broad.mit.edu	37	chr12	57348759	57348759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccaaaaagtgacaccCggcccatgacactggagacg	9	15	0	3			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:57348759C>T	uc001smi.3	-	2	675	c.503G>A	c.(502-504)CGG>CAG	p.R168Q	RDH16_uc009zpa.2_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	168	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						AAGTGACACCCGGCCCATGAC	0.587													T	57348759	C	T	57348759	3	4	220	1	0	0	0	0	1	0	0	0	13194	652	23	1	462	1	RDH16	12	57348759	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	9257263	57348759	76503136	64	114072											
TSPAN31	6302	broad.mit.edu	37	chr12	58139600	58139600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtccagcatccacatcAtcggcggagtcattgctgtg	12	11	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:58139600A>G	uc001spt.2	+	2	290	c.136A>G	c.(136-138)ATC>GTC	p.I46V	TSPAN31_uc009zqb.2_Missense_Mutation_p.I46V|TSPAN31_uc010ssa.1_5'UTR	NM_005981	NP_005972	Q12999	TSN31_HUMAN	sarcoma amplified sequence	46	Helical; (Potential).				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction					0	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)			CATCCACATCATCGGCGGAGT	0.542													G	58139600	A	G	58139600	3	3	220	1	0	0	0	0	1	0	0	0	16643	217	8	3	142	3	TSPAN31	12	58139600	Missense_Mutation	SNP	A	TCGA-D7-8573-01A-11D-2340-08	790841	58139600	75712295	65	114073											
ASCL1	429	broad.mit.edu	37	chr12	103352565	103352565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagcatgacgcggtgagCgccgccttccaggcaggcgt	16	13	0	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:103352565C>T	uc001tjr.3	+	1	1114	c.543C>T	c.(541-543)AGC>AGT	p.S181S		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	181					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				0						ACGCGGTGAGCGCCGCCTTCC	0.647													T	103352565	C	T	103352565	2	4	220	1	0	0	0	0	0	0	0	1	1034	767	27	1		1	ASCL1	12	103352565	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08	45212965	103352565	30499330	66	114074											
ACACB	32	broad.mit.edu	37	chr12	109680320	109680320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctccctacgtcaccaaggatCtgctccaggccaagcgattc	8	16	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:109680320C>G	uc001tob.2	+	37	5220	c.5101C>G	c.(5101-5103)CTG>GTG	p.L1701V	ACACB_uc001toc.2_Missense_Mutation_p.L1701V|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.L367V	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1701					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CACCAAGGATCTGCTCCAGGC	0.567													G	109680320	C	G	109680320	3	3	220	1	0	0	0	0	1	0	0	0	107	912	32	5	5243	5	ACACB	12	109680320	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	6327755	109680320	24171575	67	114075											
SERPINE3	647174	broad.mit.edu	37	chr13	51921358	51921358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgatgcaccaaacgaccGaggtcaactacggtgagctc	10	13	1	2	rs116923084	by1000genomes	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr13:51921358G>A	uc001vfh.2	+	3	748	c.688G>A	c.(688-690)GAG>AAG	p.E230K	SERPINE3_uc010tgp.1_Missense_Mutation_p.E230K	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	230					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCAAACGACCGAGGTCAACTA	0.582													A	51921358	G	A	51921358	3	1	220	1	0	0	0	0	1	0	0	0	14113	1059	37	1	698	1	SERPINE3	13	51921358	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08		51921358	63248520	68	114076											
SLITRK1	114798	broad.mit.edu	37	chr13	84454740	84454740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtttggagcagacccTggtgtggcatgatcctcttg	12	12	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr13:84454740T>C	uc001vlk.2	-	1	1789	c.903A>G	c.(901-903)CCA>CCG	p.P301P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	301	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGCAGACCCTGGTGTGGCAT	0.557													C	84454740	T	C	84454740	2	2	220	1	0	0	0	0	0	0	0	1	14742	1567	55	3		3	SLITRK1	13	84454740	Silent	SNP	T	TCGA-D7-8573-01A-11D-2340-08	32533382	84454740	30715138	69	114077											
KIF26A	26153	broad.mit.edu	37	chr14	104624226	104624226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggtcacccccaccccGggctcggtggggggctccac	14	19	1	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr14:104624226G>A	uc001yos.3	+	4	870	c.870G>A	c.(868-870)CCG>CCA	p.P290P		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	290					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCCACCCCGGGCTCGGTGG	0.692													A	104624226	G	A	104624226	2	1	220	1	0	0	0	0	0	0	0	1	8294	1103	39	1		1	KIF26A	14	104624226	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08		104624226	2725314	70	114078											
GABRA5	2558	broad.mit.edu	37	chr15	27128531	27128531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagctggaaagatgaaagGcttcggtttaaggggcccat	13	7	0	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr15:27128531G>T	uc001zbd.1	+	7	663	c.324G>T	c.(322-324)AGG>AGT	p.R108S	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	108	Extracellular (Potential).				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			ovary(1)	1		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)	AAGATGAAAGGCTTCGGTTTA	0.572													T	27128531	G	T	27128531	3	4	220	1	0	0	0	0	1	0	0	0	6164	1194	42	5	338	5	GABRA5	15	27128531	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08		27128531	75402861	71	114079											
LINGO1	84894	broad.mit.edu	37	chr15	77907869	77907869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcttcaggcggttgctgCggagacccagcgtccggagg	17	11	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr15:77907869C>T	uc002bct.1	-	2	432	c.380G>A	c.(379-381)CGC>CAC	p.R127H	LINGO1_uc002bcu.1_Missense_Mutation_p.R121H	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	127	Extracellular (Potential).|LRR 3.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						GCGGTTGCTGCGGAGACCCAG	0.602													T	77907869	C	T	77907869	3	4	220	1	0	0	0	0	1	0	0	0	8814	768	27	1	1486	1	LINGO1	15	77907869	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	50779338	77907869	24623523	72	114080											
ACSBG1	23205	broad.mit.edu	37	chr15	78526816	78526816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtccccgtgtgggcagcCgtatccagctccagaattgc	14	13	0	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr15:78526816C>T	uc002bdh.2	-	1	84	c.28G>A	c.(28-30)GGC>AGC	p.G10S	ACSBG1_uc010umw.1_Missense_Mutation_p.G10S|ACSBG1_uc010umx.1_5'UTR|ACSBG1_uc010umy.1_5'UTR	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	10					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			ovary(1)	1						TGTGGGCAGCCGTATCCAGCT	0.582													T	78526816	C	T	78526816	3	4	220	1	0	0	0	0	1	0	0	0	173	652	23	1	2202	1	ACSBG1	15	78526816	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	618947	78526816	24004576	73	114081											
KSR1	8844	broad.mit.edu	37	chr17	25924413	25924413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccatccagcgccaccacGccccccaacccctcacctgg	5	24	1	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:25924413G>A	uc010crg.2	+	10	1453	c.1008G>A	c.(1006-1008)ACG>ACA	p.T336T	KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.T137T	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	471					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCGCCACCACGCCCCCCAACC	0.617													A	25924413	G	A	25924413	2	1	220	1	0	0	0	0	0	0	0	1	8581	1074	38	1		1	KSR1	17	25924413	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08		25924413	55270797	74	114082											
JUP	3728	broad.mit.edu	37	chr17	39919515	39919515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcacaggtgaggacgTtgacgtcatccacactcagc	12	13	2	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:39919515T>C	uc002hxq.2	-	8	1494	c.1217A>G	c.(1216-1218)AAC>AGC	p.N406S	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.N406S|JUP_uc002hxs.2_Missense_Mutation_p.N406S	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	406	ARM 5.				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			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTGAGGACGTTGACGTCATC	0.577													C	39919515	T	C	39919515	3	2	220	1	0	0	0	0	1	0	0	0	7972	1725	60	3	1048	3	JUP	17	39919515	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	13995102	39919515	41275695	75	114083											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	220	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-D7-8573-01A-11D-2340-08	16466869	56386384	24808826	76	114084											
THOC4	10189	broad.mit.edu	37	chr17	79846121	79846121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccgggactcactctcGcattataggcgtccagctgg	10	16	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:79846121G>C	uc002kbu.2	-	5	782	c.776C>G	c.(775-777)GCG>GGG	p.A259G		NM_005782	NP_005773	Q86V81	THOC4_HUMAN	THO complex 4	252					intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTCACTCTCGCATTATAGGC	0.632													C	79846121	G	C	79846121	3	2	220	1	0	0	0	0	1	0	0	0	15864	1087	38	5	26	5	THOC4	17	79846121	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	23459737	79846121	1349089	77	114085											
DTNA	1837	broad.mit.edu	37	chr18	32398276	32398276	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catagcaaccagcaccaaatGaaagagtacacgtcatgggt	9	10	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr18:32398276G>A	uc010dmn.1	+	7	859	c.858G>A	c.(856-858)ATG>ATA	p.M286I	DTNA_uc002kxu.2_Missense_Mutation_p.M286I|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.M286I|DTNA_uc002kxw.2_Missense_Mutation_p.M286I|DTNA_uc002kxx.2_Missense_Mutation_p.M286I|DTNA_uc010dmj.2_Missense_Mutation_p.M286I|DTNA_uc002kxz.2_Missense_Mutation_p.M286I|DTNA_uc002kxy.2_Missense_Mutation_p.M286I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.M286I|DTNA_uc002kyb.3_Missense_Mutation_p.M286I|DTNA_uc010dmm.2_Missense_Mutation_p.M286I|DTNA_uc010xby.1_Missense_Mutation_p.M36I|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	286	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						AGCACCAAATGAAAGAGTACA	0.502													A	32398276	G	A	32398276	3	1	220	1	0	0	0	0	1	0	0	0	4788	1290	45	4	884	4	DTNA	18	32398276	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08		32398276	45678972	78	114086											
ZNF626	199777	broad.mit.edu	37	chr19	20808112	20808116	+	Frame_Shift_Del	DEL	GTGTA	GTGTA	-													tccagtatgaattttcttatGtgtagtaagagttgagaact							TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:20808111_20808115TGTGTA>T	uc002npb.1	-	3	718_722	c.568_572TACACA>A	c.(568-573)acacatfs	p.T190fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.T114fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AATTTTCTTATGTGTAGTAAGAGTT	0.351													-	20808116	GTGTA	-	20808112	7	5	220	1	0	1	0	1	0	0	0	0	18047	1377	48	0	1019	0	ZNF626	19	20808112	Frame_Shift_Del	DEL	GTGTA	TCGA-D7-8573-01A-11D-2340-08		20808112	38320871	79	114087											
AXL	558	broad.mit.edu	37	chr19	41745064	41745086	+	Splice_Site	DEL	CCTAGGTGCTAATGGACATAGGG	CCTAGGTGCTAATGGACATAGGG	-													ctgatgccacttctggacctCctaggtgctaatggacatag							TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:41745063_41745085TCCTAGGTGCTAATGGACATAGGG>T	uc010ehj.3	+	9	1325	c.1135_splice	c.e9-1	p.V379_splice	AXL_uc010ehi.1_Splice_Site_p.V379_splice|AXL_uc010ehk.3_Splice_Site_p.V379_splice	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	379	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						CTTCTGGACCTCCTAGGTGCTAATGGACATAGGGCTAAGGCAA	0.574													-	41745086	CCTAGGTGCTAATGGACATAGGG	-	41745064	8	5	220	1	0	1	0	1	0	0	1	0	1238	870	30	0		0	AXL	19	41745064	Splice_Site	DEL	CCTAGGTGCTAATGGACATAGGG	TCGA-D7-8573-01A-11D-2340-08	20936952	41745064	17383919	80	114088											
TMEM91	641649	broad.mit.edu	37	chr19	41888765	41888765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaccacctcggcttggctgTcttctccatgctgtgttgtt	10	13	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:41888765T>C	uc002oqk.3	+	3	650	c.299T>C	c.(298-300)GTC>GCC	p.V100A	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.V100A|TMEM91_uc010ehq.2_Missense_Mutation_p.V100A|TMEM91_uc002oql.2_Missense_Mutation_p.V100A|TMEM91_uc010ehr.2_Missense_Mutation_p.V100A|TMEM91_uc010ehs.2_Missense_Mutation_p.V100A|TMEM91_uc010eht.2_Missense_Mutation_p.V100A|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Missense_Mutation_p.V100A	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	100	Helical; (Potential).				response to biotic stimulus	integral to membrane					0						GGCTTGGCTGTCTTCTCCATG	0.567													C	41888765	T	C	41888765	3	2	220	1	0	0	0	0	1	0	0	0	16217	1667	58	3	305	3	TMEM91	19	41888765	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	143701	41888765	17240218	81	114089											
DBP	1628	broad.mit.edu	37	chr19	49136834	49136834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgatagggcaagatcaGctgggtcgggttcaaaggtc	15	7	2	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:49136834G>A	uc002pjx.3	-	3	1017	c.629C>T	c.(628-630)GCT>GTT	p.A210V	DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_Missense_Mutation_p.A210V	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	210	Pro-rich (proline/acidic region (PAR)).				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				0		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)		GGCAAGATCAGCTGGGTCGGG	0.557													A	49136834	G	A	49136834	3	1	220	1	0	0	0	0	1	0	0	0	4256	971	34	2	356	2	DBP	19	49136834	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	7248069	49136834	9992149	82	114090											
SHANK1	50944	broad.mit.edu	37	chr19	51192535	51192535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctccttaatgatgtaatCgctggcagggaggcaggaga	13	8	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:51192535C>T	uc002psx.1	-	15	1985	c.1966G>A	c.(1966-1968)GAT>AAT	p.D656N	SHANK1_uc002psw.1_Missense_Mutation_p.D40N	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	656					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGATGTAATCGCTGGCAGGG	0.607													T	51192535	C	T	51192535	3	4	220	1	0	0	0	0	1	0	0	0	14264	898	31	1	4555	1	SHANK1	19	51192535	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	2055701	51192535	7936448	83	114091											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918541	51918541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgaggcagctccaggacCccggggtctgagggctggga	17	13	1	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:51918541C>T	uc002pwo.2	-	7	1840	c.1224G>A	c.(1222-1224)GGG>GGA	p.G408G	SIGLEC10_uc002pwp.2_Silent_p.G350G|SIGLEC10_uc002pwq.2_Silent_p.G350G|SIGLEC10_uc002pwr.2_Silent_p.G408G|SIGLEC10_uc010ycy.1_Silent_p.G318G|SIGLEC10_uc010ycz.1_Silent_p.G360G|SIGLEC10_uc010eow.2_Silent_p.G220G|SIGLEC10_uc002pws.1_Silent_p.G244G	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	408	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTCCAGGACCCCGGGGTCTG	0.672													T	51918541	C	T	51918541	2	4	220	1	0	0	0	0	0	0	0	1	14306	610	22	4		4	SIGLEC10	19	51918541	Silent	SNP	C	TCGA-D7-8573-01A-11D-2340-08	726006	51918541	7210442	84	114092											
NLRP7	199713	broad.mit.edu	37	chr19	55451653	55451653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttccccacgcctgcgggGccgtgcagcaccaccgtgta	12	16	0	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:55451653G>A	uc002qih.3	-	4	610	c.534C>T	c.(532-534)GGC>GGT	p.G178G	NLRP7_uc002qig.3_Silent_p.G178G|NLRP7_uc002qii.3_Silent_p.G178G|NLRP7_uc010esk.2_Silent_p.G178G|NLRP7_uc010esl.2_Silent_p.G206G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	178	NACHT.|ATP (Potential).						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CGCCTGCGGGGCCGTGCAGCA	0.547													A	55451653	G	A	55451653	2	1	220	1	0	0	0	0	0	0	0	1	10482	1190	42	2		2	NLRP7	19	55451653	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08	3533112	55451653	3677330	85	114093											
NLRP13	126204	broad.mit.edu	37	chr19	56419268	56419268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcagcttgctgttaccCtgaagggcaataatgaggtc	13	8	1	2			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:56419268C>A	uc010ygg.1	-	7	2362	c.2337G>T	c.(2335-2337)CAG>CAT	p.Q779H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	779							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCTGTTACCCTGAAGGGCAA	0.502													A	56419268	C	A	56419268	3	1	220	1	0	0	0	0	1	0	0	0	10475	680	24	5	812	5	NLRP13	19	56419268	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	967615	56419268	2709715	86	114094											
ZNF551	90233	broad.mit.edu	37	chr19	58199305	58199305	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccggagacttcatacTggagaaaggccttatgaatg	11	9	1	3			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:58199305T>A	uc002qpw.3	+	3	1837	c.1614T>A	c.(1612-1614)ACT>ACA	p.T538T	ZNF551_uc002qpv.3_Silent_p.T481T|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		GACTTCATACTGGAGAAAGGC	0.458													A	58199305	T	A	58199305	2	1	220	1	0	0	0	0	0	0	0	1	17980	1567	55	5		5	ZNF551	19	58199305	Silent	SNP	T	TCGA-D7-8573-01A-11D-2340-08	1780037	58199305	929678	87	114095											
HCK	3055	broad.mit.edu	37	chr20	30671747	30671747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcggcagggagataccGtgaaacattacaagatccgg	11	11	0	3			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:30671747G>A	uc002wxh.2	+	7	754	c.583G>A	c.(583-585)GTG>ATG	p.V195M	HCK_uc010gdy.2_Missense_Mutation_p.V174M|HCK_uc002wxi.2_Missense_Mutation_p.V173M	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	195	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGAGATACCGTGAAACATTA	0.552													A	30671747	G	A	30671747	3	1	220	1	0	0	0	0	1	0	0	0	6994	1145	40	1	615	1	HCK	20	30671747	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08		30671747	32353773	88	114096											
NPEPL1	79716	broad.mit.edu	37	chr20	57269511	57269511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggaggtctttgcttccGcctgtgccctggcccgggcc	14	16	1	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:57269511G>A	uc010zzs.1	+	3	465	c.370G>A	c.(370-372)GCC>ACC	p.A124T	NPEPL1_uc010zzr.1_Missense_Mutation_p.A76T|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.A96T|NPEPL1_uc002xzp.2_Missense_Mutation_p.A12T	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	124					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTTTGCTTCCGCCTGTGCCCT	0.662													A	57269511	G	A	57269511	3	1	220	1	0	0	0	0	1	0	0	0	10574	1087	38	1	226	1	NPEPL1	20	57269511	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	26597764	57269511	5756009	89	114097											
BHLHE23	128408	broad.mit.edu	37	chr20	61637750	61637750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtcgtgcatgcgccgcCgctcgcgcgcgttgatgctg	15	13	0	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:61637750C>T	uc002yeb.2	-	1	638	c.329G>A	c.(328-330)CGG>CAG	p.R110Q	uc002yec.1_5'Flank	NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	110	Arg-rich.|Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						CATGcgccgccgctcgcgcgc	0.313													T	61637750	C	T	61637750	3	4	220	1	0	0	0	0	1	0	0	0	1422	652	23	1	352	1	BHLHE23	20	61637750	Missense_Mutation	SNP	C	TCGA-D7-8573-01A-11D-2340-08	4368239	61637750	1387770	90	114098											
CHRNA4	1137	broad.mit.edu	37	chr20	61981757	61981757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcatggtgtgcgtgcGtggcgagcggtggtgcacgt	22	7	0	0	rs56175056	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:61981757G>A	uc002yes.2	-	5	1184	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	CHRNA4_uc002yet.1_Missense_Mutation_p.R160C|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R265C|CHRNA4_uc002yev.1_Missense_Mutation_p.R160C|CHRNA4_uc010gkf.1_Missense_Mutation_p.R160C	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	336	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GTGTGCGTGCGTGGCGAGCGG	0.612													A	61981757	G	A	61981757	3	1	220	1	0	0	0	0	1	0	0	0	3385	1145	40	1	885	1	CHRNA4	20	61981757	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08	344007	61981757	1043763	91	114099											
APP	351	broad.mit.edu	37	chr21	27254029	27254029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggttggattttcgtagccGttctgctgcatcttggacag	12	8	2	0	rs142218254		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr21:27254029G>A	uc002ylz.2	-	18	2465	c.2265C>T	c.(2263-2265)AAC>AAT	p.N755N	APP_uc011acg.1_Silent_p.N263N|APP_uc010glk.2_Silent_p.N731N|APP_uc002yma.2_Silent_p.N736N|APP_uc011ach.1_Silent_p.N699N|APP_uc002ymb.2_Silent_p.N680N|APP_uc010glj.2_Silent_p.N624N|APP_uc011aci.1_Silent_p.N645N	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	755	Cytoplasmic (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TTTCGTAGCCGTTCTGCTGCA	0.478											OREG0026148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27254029	G	A	27254029	2	1	220	1	0	0	0	0	0	0	0	1	815	1136	40	1		1	APP	21	27254029	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08		27254029	20875866	92	114100											
ADAMTS1	9510	broad.mit.edu	37	chr21	28214836	28214836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaggctaactgaaTtacgaatgctggggtgtttg	11	10	0	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr21:28214836T>C	uc002ymf.2	-	2	1354	c.899A>G	c.(898-900)AAT>AGT	p.N300S		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	300	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GCTAACTGAATTACGAATGCT	0.517													C	28214836	T	C	28214836	3	2	220	1	0	0	0	0	1	0	0	0	255	1493	52	3	2036	3	ADAMTS1	21	28214836	Missense_Mutation	SNP	T	TCGA-D7-8573-01A-11D-2340-08	960807	28214836	19915059	93	114101											
HMOX1	3162	broad.mit.edu	37	chr22	35789509	35789509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcccccactcaacacccGctcccaggctccgcttctcc	6	22	2	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr22:35789509G>A	uc003ant.1	+	5	865	c.785G>A	c.(784-786)CGC>CAC	p.R262H		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	262					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	CTCAACACCCGCTCCCAGGCT	0.577													A	35789509	G	A	35789509	3	1	220	1	0	0	0	0	1	0	0	0	7243	1087	38	1	803	1	HMOX1	22	35789509	Missense_Mutation	SNP	G	TCGA-D7-8573-01A-11D-2340-08		35789509	15515057	94	114102											
NLGN4X	57502	broad.mit.edu	37	chrX	5821348	5821348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtactgcgcgtgcaggtcGgcggtggccacggcgggggc	20	13	0	0			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chrX:5821348G>A	uc010ndh.2	-	5	1872	c.1371C>T	c.(1369-1371)GCC>GCT	p.A457A	NLGN4X_uc004crp.2_Silent_p.A477A|NLGN4X_uc004crq.2_Silent_p.A457A|NLGN4X_uc010ndi.2_Silent_p.A494A|NLGN4X_uc004crr.2_Silent_p.A457A|NLGN4X_uc010ndj.2_Silent_p.A457A	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	457	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						CGTGCAGGTCGGCGGTGGCCA	0.617													A	5821348	G	A	5821348	2	1	220	1	0	0	0	0	0	0	0	1	10464	1103	39	1		1	NLGN4X	23	5821348	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08		5821348	149449212	95	114103											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998138	27998138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattaacacatttgattgtGtcattatttctgtgcccctt	5	8	2	1			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chrX:27998138G>A	uc004dbx.1	-	1	1429	c.1314C>T	c.(1312-1314)GAC>GAT	p.D438D		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	438	WD 6.									ovary(3)|skin(1)	4						ATTTGATTGTGTCATTATTTC	0.443													A	27998138	G	A	27998138	2	1	220	1	0	0	0	0	0	0	0	1	4277	1368	48	4		4	DCAF8L1	23	27998138	Silent	SNP	G	TCGA-D7-8573-01A-11D-2340-08	22176790	27998138	127272422	96	114104											
SLC1A7	6512	broad.mit.edu	37	chr1	53558323	53558323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagtagagcaggggcaGgataaagagcccgtggagca	17	6	0	3			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr1:53558323G>A	uc001cuy.2	-	7	1102	c.934C>T	c.(934-936)CTG>TTG	p.L312L	SLC1A7_uc001cux.2_5'Flank	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	312	Helical; (Potential).					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AGCAGGGGCAGGATAAAGAGC	0.592													A	53558323	G	A	53558323	2	1	221	1	0	0	0	0	0	0	0	1	14437	991	35	4		4	SLC1A7	1	53558323	Silent	SNP	G	TCGA-D7-8574-01A-13D-2340-08		53558323	195692298	1	114105											
CNN3	1266	broad.mit.edu	37	chr1	95367785	95367785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcataccataagcctgaatAgctttaataaagttgccaat	5	8	1	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr1:95367785A>G	uc010otw.1	-	5	358	c.276T>C	c.(274-276)GCT>GCC	p.A92A	CNN3_uc010otv.1_Silent_p.A51A|CNN3_uc001dqz.3_Silent_p.A92A|CNN3_uc010otx.1_Intron	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	92	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		AAGCCTGAATAGCTTTAATAA	0.343													G	95367785	A	G	95367785	2	3	221	1	0	0	0	0	0	0	0	1	3611	407	15	3		3	CNN3	1	95367785	Silent	SNP	A	TCGA-D7-8574-01A-13D-2340-08	41809462	95367785	153882836	2	114106											
OLFML2B	25903	broad.mit.edu	37	chr1	161967627	161967627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttacctatgacattccGgatgtcatcttcttcttcgg	7	11	4	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr1:161967627G>A	uc001gbu.2	-	6	1886	c.1462C>T	c.(1462-1464)CGG>TGG	p.R488W	OLFML2B_uc010pkq.1_Missense_Mutation_p.R489W	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	488										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATGACATTCCGGATGTCATCT	0.552													A	161967627	G	A	161967627	3	1	221	1	0	0	0	0	1	0	0	0	10858	1115	39	1	802	1	OLFML2B	1	161967627	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08	66599842	161967627	87282994	3	114107											
TNR	7143	broad.mit.edu	37	chr1	175292512	175292512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaactgtaaggactgcCgttttctccctgccatgaga	9	12	2	2			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr1:175292512C>T	uc001gkp.1	-	21	4139	c.4058G>A	c.(4057-4059)CGG>CAG	p.R1353Q	TNR_uc009wwu.1_Missense_Mutation_p.R1353Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1353					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TAAGGACTGCCGTTTTCTCCC	0.473													T	175292512	C	T	175292512	3	4	221	1	0	0	0	0	1	0	0	0	16335	652	23	1	22	1	TNR	1	175292512	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08	13324885	175292512	73958109	4	114108											
FOSL2	2355	broad.mit.edu	37	chr2	28635103	28635103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgctgggggcttctacGgtgaggagcccctgcacacc	14	13	1	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr2:28635103G>A	uc002rma.2	+	4	1578	c.769G>A	c.(769-771)GGT>AGT	p.G257S	FOSL2_uc010ymi.1_Missense_Mutation_p.G218S	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	257					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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					GGGCTTCTACGGTGAGGAGCC	0.647													A	28635103	G	A	28635103	3	1	221	1	0	0	0	0	1	0	0	0	5988	1116	39	1	783	1	FOSL2	2	28635103	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08		28635103	214564270	5	114109											
RANBP2	5903	broad.mit.edu	37	chr2	109399073	109399073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacatttgaagaatgtcagCagaatttaatgaaactccag	7	6	1	4			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr2:109399073C>A	uc002tem.3	+	28	9250	c.9124C>A	c.(9124-9126)CAG>AAG	p.Q3042K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3042	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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AGAATGTCAGCAGAATTTAAT	0.398													A	109399073	C	A	109399073	3	1	221	1	0	0	0	0	1	0	0	0	13028	711	25	5	9234	5	RANBP2	2	109399073	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08	80763970	109399073	133800300	6	114110											
RHOA	387	broad.mit.edu	37	chr3	49405956	49405956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcataatcttcctgcccaGctgtgtcccacaaagccaac	6	15	2	0			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr3:49405956G>T	uc003cwu.2	-	3	458	c.182C>A	c.(181-183)GCT>GAT	p.A61D	RHOA_uc010hku.2_Translation_Start_Site	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	61	GTP (By similarity).				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			ovary(2)	2				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)	TTCCTGCCCAGCTGTGTCCCA	0.473													T	49405956	G	T	49405956	3	4	221	1	0	0	0	0	1	0	0	0	13331	971	34	5	411	5	RHOA	3	49405956	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08		49405956	148616474	7	114111											
MYH15	22989	broad.mit.edu	37	chr3	108159995	108159995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagctcagaatttatcTcctcttcttcctccaccctc	3	17	5	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr3:108159995T>C	uc003dxa.1	-	24	2885	c.2828A>G	c.(2827-2829)GAG>GGG	p.E943G		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	943	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AGAATTTATCTCCTCTTCTTC	0.478													C	108159995	T	C	108159995	3	2	221	1	0	0	0	0	1	0	0	0	10034	1551	54	3	3088	3	MYH15	3	108159995	Missense_Mutation	SNP	T	TCGA-D7-8574-01A-13D-2340-08	58754039	108159995	89862435	8	114112											
MME	4311	broad.mit.edu	37	chr3	154886414	154886414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctggcaggtggacagcaCgtatgtcattagcattctct	11	10	2	0			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr3:154886414C>T	uc010hvr.1	+	19	2125	c.1914C>T	c.(1912-1914)CAC>CAT	p.H638H	MME_uc003fab.1_Silent_p.H638H|MME_uc003fac.1_Silent_p.H638H|MME_uc003fad.1_Silent_p.H638H|MME_uc003fae.1_Silent_p.H638H	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	638	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GTGGACAGCACGTATGTCATT	0.383													T	154886414	C	T	154886414	2	4	221	1	0	0	0	0	0	0	0	1	9645	550	19	1		1	MME	3	154886414	Silent	SNP	C	TCGA-D7-8574-01A-13D-2340-08	46726419	154886414	43136016	9	114113											
CLCN2	1181	broad.mit.edu	37	chr3	184073198	184073198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccagggtgaggaagacGttggcacgtggtgggttcca	17	7	0	3			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr3:184073198G>A	uc003foi.2	-	12	1414	c.1290C>T	c.(1288-1290)AAC>AAT	p.N430N	CLCN2_uc003foh.2_Translation_Start_Site|CLCN2_uc010hya.1_Silent_p.N430N|CLCN2_uc011brl.1_Silent_p.N430N|CLCN2_uc011brm.1_Silent_p.N386N|CLCN2_uc011brn.1_Silent_p.N430N	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	430	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	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)	TGAGGAAGACGTTGGCACGTG	0.522													A	184073198	G	A	184073198	2	1	221	1	0	0	0	0	0	0	0	1	3463	1136	40	1		1	CLCN2	3	184073198	Silent	SNP	G	TCGA-D7-8574-01A-13D-2340-08	29186784	184073198	13949232	10	114114											
OR14J1	442191	broad.mit.edu	37	chr6	29274611	29274611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattatcaccatcattaccGtggaccgtcgtctccattcc	5	15	4	0			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr6:29274611G>A	uc011dln.1	+	1	145	c.145G>A	c.(145-147)GTG>ATG	p.V49M		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CATCATTACCGTGGACCGTCG	0.468													A	29274611	G	A	29274611	3	1	221	1	0	0	0	0	1	0	0	0	10948	1145	40	1	147	1	OR14J1	6	29274611	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08		29274611	141840456	11	114115											
C6orf1	221491	broad.mit.edu	37	chr6	34214824	34214824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccaagtgctcaccttGgggtctcccatgtcagagag	12	14	3	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr6:34214824G>A	uc003ojf.2	-	4	714	c.122C>T	c.(121-123)CCA>CTA	p.P41L	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Missense_Mutation_p.P41L|C6orf1_uc003ojh.2_Missense_Mutation_p.P41L|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	41						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		TGCTCACCTTGGGGTCTCCCA	0.607											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	34214824	G	A	34214824	3	1	221	1	0	0	0	0	1	0	0	0	2316	1348	47	4	365	4	C6orf1	6	34214824	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08	4940213	34214824	136900243	12	114116											
HSF2	3298	broad.mit.edu	37	chr6	122743424	122743424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaaactaatgaggatGttatatctgatccctccaag	7	9	1	3			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr6:122743424G>A	uc003pyu.2	+	8	998	c.811G>A	c.(811-813)GTT>ATT	p.V271I	HSF2_uc003pyv.2_Missense_Mutation_p.V271I	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	271					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TAATGAGGATGTTATATCTGA	0.313													A	122743424	G	A	122743424	3	1	221	1	0	0	0	0	1	0	0	0	7396	1377	48	4	841	4	HSF2	6	122743424	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08	88528600	122743424	48371643	13	114117											
C7orf27	221927	broad.mit.edu	37	chr7	2594051	2594051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccgggagcagctgggcGcattctgggtccatggtgag	18	9	1	2			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr7:2594051G>A	uc003smi.2	-	2	57	c.15C>T	c.(13-15)TGC>TGT	p.C5C	C7orf27_uc003smj.1_Silent_p.C5C	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	5					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GCAGCTGGGCGCATTCTGGGT	0.597													A	2594051	G	A	2594051	2	1	221	1	0	0	0	0	0	0	0	1	2382	1079	38	1		1	C7orf27	7	2594051	Silent	SNP	G	TCGA-D7-8574-01A-13D-2340-08		2594051	156544612	14	114118											
RABEPK	10244	broad.mit.edu	37	chr9	127990211	127990211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgacctggtcacagccAgagacacttggaaatcctcc	8	14	2	2			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr9:127990211A>G	uc004bpi.2	+	7	722	c.549A>G	c.(547-549)CCA>CCG	p.P183P	RABEPK_uc004bpj.2_Silent_p.P132P|RABEPK_uc004bpk.2_Silent_p.P183P|RABEPK_uc004bpl.1_Silent_p.P132P|RABEPK_uc004bpm.2_Silent_p.P183P	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	183	Kelch 3.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						GGTCACAGCCAGAGACACTTG	0.483													G	127990211	A	G	127990211	2	3	221	1	0	0	0	0	0	0	0	1	12963	175	7	3		3	RABEPK	9	127990211	Silent	SNP	A	TCGA-D7-8574-01A-13D-2340-08		127990211	13223220	15	114119											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841317	27841317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacttggcagaatatgcGcccaatctcagaggcagtgg	14	9	1	2			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr12:27841317G>A	uc001ric.1	+	25	2852	c.2475G>A	c.(2473-2475)GCG>GCA	p.A825A	PPFIBP1_uc010sjr.1_Silent_p.A656A|PPFIBP1_uc001rib.1_Silent_p.A819A|PPFIBP1_uc001ria.2_Silent_p.A794A|PPFIBP1_uc001rid.1_Silent_p.A672A|PPFIBP1_uc001rif.1_Silent_p.A332A	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	825	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					CAGAATATGCGCCCAATCTCA	0.473													A	27841317	G	A	27841317	2	1	221	1	0	0	0	0	0	0	0	1	12313	1074	38	1		1	PPFIBP1	12	27841317	Silent	SNP	G	TCGA-D7-8574-01A-13D-2340-08		27841317	106010578	16	114120											
SLC17A8	246213	broad.mit.edu	37	chr12	100811871	100811871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcatggggatctcaaaCggagtgggaaccctctctgg	12	10	3	0			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr12:100811871C>T	uc010svi.1	+	11	1675	c.1362C>T	c.(1360-1362)AAC>AAT	p.N454N	SLC17A8_uc009ztx.2_Silent_p.N404N	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	454	Helical; (Potential).				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			ovary(3)	3						GGATCTCAAACGGAGTGGGAA	0.488													T	100811871	C	T	100811871	2	4	221	1	0	0	0	0	0	0	0	1	14423	535	19	1		1	SLC17A8	12	100811871	Silent	SNP	C	TCGA-D7-8574-01A-13D-2340-08	72970554	100811871	33040024	17	114121											
PLA2G1B	5319	broad.mit.edu	37	chr12	120763700	120763701	+	Frame_Shift_Ins	INS	-	-	A													gggggtgcctgagccccccaINSagccacagtagcagccgtag					rs78096484		TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr12:120763699_120763700C>CA	uc001tyd.3	-	1	194_195	c.158_159G>TG	c.(157-159)ttgfs	p.L53fs	PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	53					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 DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|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)					CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	120763701	-	A	120763700	7	5	221	1	0	1	1	0	0	0	0	0	11994	131	5	0	300	0	PLA2G1B	12	120763700	Frame_Shift_Ins	INS	-	TCGA-D7-8574-01A-13D-2340-08	19951829	120763700	13088195	18	114122											
NRXN3	9369	broad.mit.edu	37	chr14	80271525	80271525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactttgttgaatgtgagcCgagtacaggtaggtcaggtc	14	6	1	3			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr14:80271525C>T	uc001xun.2	+	16	3367	c.2876C>T	c.(2875-2877)CCG>CTG	p.P959L	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.P327L|NRXN3_uc010asw.2_Missense_Mutation_p.P357L|NRXN3_uc001xur.3_Missense_Mutation_p.P327L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1332	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAATGTGAGCCGAGTACAGGT	0.333													T	80271525	C	T	80271525	3	4	221	1	0	0	0	0	1	0	0	0	10667	652	23	1	3275	1	NRXN3	14	80271525	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08		80271525	27078015	19	114123											
ATP8B4	79895	broad.mit.edu	37	chr15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttatggtctctggggtcCgggatttaaaaatgaaccca	11	7	1	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr15:50223420C>T	uc001zxu.2	-	16	1680	c.1538G>A	c.(1537-1539)CGG>CAG	p.R513Q	ATP8B4_uc010ber.2_Missense_Mutation_p.R386Q|ATP8B4_uc010ufd.1_Intron|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	513	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398													T	50223420	C	T	50223420	3	4	221	1	0	0	0	0	1	0	0	0	1197	652	23	1	2092	1	ATP8B4	15	50223420	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08		50223420	52307972	20	114124											
IL16	3603	broad.mit.edu	37	chr15	81589340	81589340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagccctagtgcctctgcCggctgcccaggacctggtat	12	14	1	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr15:81589340C>T	uc002bgh.3	+	13	2350	c.1974C>T	c.(1972-1974)GCC>GCT	p.A658A	IL16_uc010blq.1_Silent_p.A612A|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.A700A|IL16_uc002bgg.2_Silent_p.A658A|IL16_uc002bgi.1_Silent_p.A48A|IL16_uc002bgj.2_Silent_p.A152A|IL16_uc002bgk.2_5'UTR|IL16_uc002bgl.1_5'UTR|IL16_uc010unq.1_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	658					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						GTGCCTCTGCCGGCTGCCCAG	0.592													T	81589340	C	T	81589340	2	4	221	1	0	0	0	0	0	0	0	1	7633	639	23	1		1	IL16	15	81589340	Silent	SNP	C	TCGA-D7-8574-01A-13D-2340-08	31365920	81589340	20942052	21	114125											
CNOT1	23019	broad.mit.edu	37	chr16	58619350	58619350	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgtccattagaatgTcccgtttttcagggtataaa	9	8	1	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr16:58619350T>G	uc002env.2	-	8	991	c.698A>C	c.(697-699)GAC>GCC	p.D233A	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.D233A|CNOT1_uc002enx.2_Missense_Mutation_p.D233A|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	233					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATTAGAATGTCCCGTTTTTC	0.453													G	58619350	T	G	58619350	3	3	221	1	0	0	0	0	1	0	0	0	3617	1667	58	5	6822	5	CNOT1	16	58619350	Missense_Mutation	SNP	T	TCGA-D7-8574-01A-13D-2340-08		58619350	31735403	22	114126											
CDH1	999	broad.mit.edu	37	chr16	68842595	68842595	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctttcattttgtcttcaGatcaaatccaacaaagacaa	3	9	5	2			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr16:68842595G>T	uc002ewg.1	+	5	656	c.532_splice	c.e5-1	p.I178_splice	CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.I178_splice	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein						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	p.?(4)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		TTTGTCTTCAGATCAAATCCA	0.418			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68842595	G	T	68842595	5	4	221	1	0	0	0	0	0	0	1	0	3095	956	33	5	549	5	CDH1	16	68842595	Splice_Site	SNP	G	TCGA-D7-8574-01A-13D-2340-08	10223245	68842595	21512158	23	114127											
IMP5	162540	broad.mit.edu	37	chr17	43923555	43923555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtactcaaagtgccccGgctaagagtctccgccttga	10	13	2	2			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr17:43923555G>A	uc010wka.1	+	1	1283	c.1283G>A	c.(1282-1284)CGG>CAG	p.R428Q	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	428	Cytoplasmic (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		AAAGTGCCCCGGCTAAGAGTC	0.587													A	43923555	G	A	43923555	3	1	221	1	0	0	0	0	1	0	0	0	7721	1116	39	1	1285	1	IMP5	17	43923555	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08		43923555	37271655	24	114128											
CACNA1G	8913	broad.mit.edu	37	chr17	48680542	48680542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtgctgcggctgctgcGgaccctgcgcccgctcaggt	17	14	1	0			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr17:48680542G>A	uc002irk.1	+	21	4523	c.4151G>A	c.(4150-4152)CGG>CAG	p.R1384Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R1274Q|CACNA1G_uc002isj.2_Missense_Mutation_p.R108Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1384	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	CGGCTGCTGCGGACCCTGCGC	0.657													A	48680542	G	A	48680542	3	1	221	1	0	0	0	0	1	0	0	0	2544	1116	39	1	4233	1	CACNA1G	17	48680542	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08	4756987	48680542	32514668	25	114129											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	221	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-D7-8574-01A-13D-2340-08	7705842	56386384	24808826	26	114130											
ME2	4200	broad.mit.edu	37	chr18	48443718	48443718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatttttttgtgattaaggCtgttgtagtgactgatggag	13	3	0	3			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr18:48443718C>T	uc002ley.2	+	6	726	c.470C>T	c.(469-471)GCT>GTT	p.A157V	ME2_uc010dpd.2_Missense_Mutation_p.A157V	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	157					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		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)	GTGATTAAGGCTGTTGTAGTG	0.338													T	48443718	C	T	48443718	3	4	221	1	0	0	0	0	1	0	0	0	9418	811	28	2	488	2	ME2	18	48443718	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08		48443718	29633530	27	114131											
CREB3L3	84699	broad.mit.edu	37	chr19	4154997	4154997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagacacgtggagctgggCgagggctggggtcacgtcaa	18	9	2	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr19:4154997C>T	uc002lzl.2	+	2	245	c.129C>T	c.(127-129)GGC>GGT	p.G43G	CREB3L3_uc002lzm.2_Silent_p.G34G|CREB3L3_uc010xib.1_Silent_p.G34G|CREB3L3_uc010xic.1_Silent_p.G34G	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	43	Cytoplasmic (Potential).				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			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGCTGGGCGAGGGCTGGG	0.642													T	4154997	C	T	4154997	2	4	221	1	0	0	0	0	0	0	0	1	3858	755	27	1		1	CREB3L3	19	4154997	Silent	SNP	C	TCGA-D7-8574-01A-13D-2340-08		4154997	54973986	28	114132											
RDH8	50700	broad.mit.edu	37	chr19	10129502	10129502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaactttttcggagctgtcCgtctcgtcaaagctgtgctt	9	12	2	0			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr19:10129502C>A	uc002mmr.2	+	3	607	c.358C>A	c.(358-360)CGT>AGT	p.R120S		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	120					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			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CGGAGCTGTCCGTCTCGTCAA	0.587													A	10129502	C	A	10129502	3	1	221	1	0	0	0	0	1	0	0	0	13196	652	23	5	368	5	RDH8	19	10129502	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08	5974505	10129502	48999481	29	114133											
C20orf194	25943	broad.mit.edu	37	chr20	3355774	3355774	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcttcttcatcttcataCtgaagagacaaatcaaaaga	7	9	5	3			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr20:3355774C>T	uc002wii.2	-	5	460	c.409_splice	c.e5-1	p.Y137_splice	C20orf194_uc002wik.2_Splice_Site|C20orf194_uc010gay.1_Splice_Site	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943												0						CATCTTCATACTGAAGAGACA	0.383													T	3355774	C	T	3355774	5	4	221	1	0	0	0	0	0	0	1	0	2099	579	20	4	3257	4	C20orf194	20	3355774	Splice_Site	SNP	C	TCGA-D7-8574-01A-13D-2340-08		3355774	59669746	30	114134											
CD93	22918	broad.mit.edu	37	chr20	23065099	23065099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataaaagcagcttttgcccGtcagtgccatcgttgttttg	9	9	1	0			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr20:23065099G>A	uc002wsv.2	-	1	1879	c.1731C>T	c.(1729-1731)GAC>GAT	p.D577D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	577	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTTTTGCCCGTCAGTGCCAT	0.617													A	23065099	G	A	23065099	2	1	221	1	0	0	0	0	0	0	0	1	3047	1136	40	1		1	CD93	20	23065099	Silent	SNP	G	TCGA-D7-8574-01A-13D-2340-08	19709325	23065099	39960421	31	114135											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chr20:57484421G>A	uc002xzw.2	+	8	2816	c.2531G>A	c.(2530-2532)CGT>CAT	p.R844H	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142H|GNAS_uc002xzx.2_Missense_Mutation_p.R142H|GNAS_uc010gjr.2_Missense_Mutation_p.R92H|GNAS_uc002xzy.2_Missense_Mutation_p.R127H|GNAS_uc002yaa.2_Missense_Mutation_p.R187H|GNAS_uc010zzt.1_Missense_Mutation_p.R202H|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92H|GNAS_uc002yae.2_Missense_Mutation_p.R126H	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	201	GTP (By similarity).		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(37)|p.R201L(1)|p.R844H(1)		pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57484421	G	A	57484421	3	1	221	1	0	0	0	0	1	0	0	0	6510	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-D7-8574-01A-13D-2340-08	34419322	57484421	5541099	32	114136											
NHS	4810	broad.mit.edu	37	chrX	17745826	17745826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgaagacaccatactGtcctttttagactcttctgc	5	13	2	3			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chrX:17745826G>A	uc004cxx.2	+	6	3875	c.3537G>A	c.(3535-3537)CTG>CTA	p.L1179L	NHS_uc011mix.1_Silent_p.L1200L|NHS_uc004cxy.2_Silent_p.L1023L|NHS_uc004cxz.2_Silent_p.L1002L|NHS_uc004cya.2_Silent_p.L902L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1179						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					ACACCATACTGTCCTTTTTAG	0.413													A	17745826	G	A	17745826	2	1	221	1	0	0	0	0	0	0	0	1	10411	1364	48	4		4	NHS	23	17745826	Silent	SNP	G	TCGA-D7-8574-01A-13D-2340-08		17745826	137524734	33	114137											
MAGEB10	139422	broad.mit.edu	37	chrX	27840218	27840218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtaccagcaagtgcccaaCagtgatcctccacgctatca	8	14	1	1			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chrX:27840218C>A	uc004dbw.2	+	3	1022	c.795C>A	c.(793-795)AAC>AAA	p.N265K		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	265	MAGE.									lung(1)|breast(1)|central_nervous_system(1)	3						AAGTGCCCAACAGTGATCCTC	0.458													A	27840218	C	A	27840218	3	1	221	1	0	0	0	0	1	0	0	0	9173	477	17	5	797	5	MAGEB10	23	27840218	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08	10094392	27840218	127430342	34	114138											
PCDH19	57526	broad.mit.edu	37	chrX	99551591	99551591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgttgaccttggggctgCagatggtcacatcgacagtc	13	11	1	2			TCGA-D7-8574-01A-13D-2340-08	TCGA-D7-8574-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8bb9319-5450-418d-874c-e117448cecfe	2c754412-22e7-471f-b5f7-a390110559b7	g.chrX:99551591C>A	uc010nmz.2	-	6	4807	c.3131G>T	c.(3130-3132)TGC>TTC	p.C1044F	PCDH19_uc004efw.3_Missense_Mutation_p.C996F|PCDH19_uc004efx.3_Missense_Mutation_p.C997F	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1044	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CTTGGGGCTGCAGATGGTCAC	0.592													A	99551591	C	A	99551591	3	1	221	1	0	0	0	0	1	0	0	0	11514	710	25	5	319	5	PCDH19	23	99551591	Missense_Mutation	SNP	C	TCGA-D7-8574-01A-13D-2340-08	71711373	99551591	55718969	35	114139											
TINAGL1	64129	broad.mit.edu	37	chr1	32042921	32042921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggacctgtgctgccgcggcCgtgccgacgactgtgccctg	15	15	0	0			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:32042921C>G	uc001bta.2	+	2	298	c.172C>G	c.(172-174)CGT>GGT	p.R58G	TINAGL1_uc001bsz.2_Intron|TINAGL1_uc010ogi.1_Missense_Mutation_p.R58G|TINAGL1_uc010ogj.1_Missense_Mutation_p.R58G|TINAGL1_uc010ogk.1_Missense_Mutation_p.R58G	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	58	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTGCCGCGGCCGTGCCGACGA	0.692													G	32042921	C	G	32042921	3	3	222	1	0	0	0	0	1	0	0	0	15919	652	23	5	174	5	TINAGL1	1	32042921	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08		32042921	217207700	1	114140											
ZSWIM5	57643	broad.mit.edu	37	chr1	45500008	45500009	+	Frame_Shift_Ins	INS	-	-	A													gcagcagtcagcatggtggaINSggccagttcacactgctgtg							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:45500007_45500008G>GA	uc001cnd.2	-	10	2653_2654	c.2425_2426C>TC	c.(2425-2427)tccfs	p.S809fs		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	809							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)					CAGCATGGTGGAGGCCAGTTCA	0.564													A	45500009	-	A	45500008	7	5	222	1	0	1	1	0	0	0	0	0	18241	304	11	0	1148	0	ZSWIM5	1	45500008	Frame_Shift_Ins	INS	-	TCGA-D7-8575-01A-11D-2340-08	13457087	45500008	203750613	2	114141											
PTGFR	5737	broad.mit.edu	37	chr1	78958499	78958499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaacacaacctgccagaCggaaaaccggctttccgtat	7	13	1	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:78958499C>A	uc001din.2	+	2	337	c.71C>A	c.(70-72)ACG>AAG	p.T24K	PTGFR_uc001dim.2_Missense_Mutation_p.T24K	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	24	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCTGCCAGACGGAAAACCGG	0.448													A	78958499	C	A	78958499	3	1	222	1	0	0	0	0	1	0	0	0	12749	536	19	5	73	5	PTGFR	1	78958499	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	33458491	78958499	170292122	3	114142											
RBM15	64783	broad.mit.edu	37	chr1	110883151	110883151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcagcgagctaaccggaCgctcttcttgggcaacctag	11	12	3	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:110883151C>T	uc001dzl.1	+	1	1207	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	RBM15_uc001dzm.1_Missense_Mutation_p.T375M|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	375	RRM 2.				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)		GCTAACCGGACGCTCTTCTTG	0.507			T	MKL1	acute megakaryocytic leukemia								T	110883151	C	T	110883151	3	4	222	1	0	0	0	0	1	0	0	0	13116	536	19	1	1126	1	RBM15	1	110883151	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	31924652	110883151	138367470	4	114143											
CADM3	57863	broad.mit.edu	37	chr1	159162373	159162373	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgatttccccagcccttCgagataatcgaattcagctg	7	12	2	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr1:159162373C>T	uc001ftl.2	+	3	377	c.235C>T	c.(235-237)CGA>TGA	p.R79*	CADM3_uc009wsx.1_Nonsense_Mutation_p.R113*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R79*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R113*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	79	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CCCAGCCCTTCGAGATAATCG	0.522													T	159162373	C	T	159162373	4	4	222	1	0	0	0	0	0	1	0	0	2568	876	31	1	351	1	CADM3	1	159162373	Nonsense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	48279222	159162373	90088248	5	114144											
ABCG5	64240	broad.mit.edu	37	chr2	44059008	44059008	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagcagggtgtcgctcTgcaggagactcgggcgtcag	16	11	3	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr2:44059008T>G	uc002rtn.2	-	4	543	c.403_splice	c.e4-1	p.S135_splice	ABCG5_uc002rto.2_Splice_Site_p.S54_splice|ABCG5_uc002rtp.2_Splice_Site	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5						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			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTGTCGCTCTGCAGGAGACT	0.582													G	44059008	T	G	44059008	5	3	222	1	0	0	0	0	0	0	1	0	71	1594	55	5	1594	5	ABCG5	2	44059008	Splice_Site	SNP	T	TCGA-D7-8575-01A-11D-2340-08		44059008	199140365	6	114145											
COL3A1	1281	broad.mit.edu	37	chr2	189863014	189863014	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctggtacaggtggtcCtccaggagaaaatggaaaac	12	9	0	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr2:189863014C>G	uc002uqj.1	+	28	2063	c.1946C>G	c.(1945-1947)CCT>CGT	p.P649R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	649	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			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACAGGTGGTCCTCCAGGAGAA	0.358													G	189863014	C	G	189863014	3	3	222	1	0	0	0	0	1	0	0	0	3688	681	24	5	2056	5	COL3A1	2	189863014	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	145804006	189863014	53336359	7	114146											
ABI3BP	25890	broad.mit.edu	37	chr3	100604388	100604388	+	Frame_Shift_Del	DEL	G	G	-													actgttacataccactgtgtGgtcttggtcataggtacttt							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr3:100604388delG	uc003dun.2	-	6	794	c.709delC	c.(709-711)CACfs	p.H237fs	ABI3BP_uc003duo.2_Frame_Shift_Del_p.H230fs|ABI3BP_uc003dup.3_Frame_Shift_Del_p.H230fs	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	237						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						ACCACTGTGTGGTCTTGGTCA	0.284													-	100604388	G	-	100604388	7	5	222	1	0	1	0	1	0	0	0	0	91	1348	47	0	2638	0	ABI3BP	3	100604388	Frame_Shift_Del	DEL	G	TCGA-D7-8575-01A-11D-2340-08		100604388	97418042	8	114147											
LETM1	3954	broad.mit.edu	37	chr4	1821128	1821130	+	In_Frame_Del	DEL	CTT	CTT	-													tccttctccttggtgagtgaCttcttctgctcctgcagctt							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr4:1821128_1821130delCTT	uc003gdv.2	-	11	1975_1977	c.1678_1680delAAG	c.(1678-1680)AAGdel	p.K560del		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	560	Mitochondrial matrix (Potential).|Potential.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGGTGAGTGACTTCTTCTGCTCC	0.532													-	1821130	CTT	-	1821128	7	5	222	1	0	1	0	1	0	0	0	0	8734	564	20	0	555	0	LETM1	4	1821128	In_Frame_Del	DEL	CTT	TCGA-D7-8575-01A-11D-2340-08		1821128	189333148	9	114148											
MAP1B	4131	broad.mit.edu	37	chr5	71495819	71495819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccgcagcccttcgccaCgccaccctgatgtgtccatg	9	17	0	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:71495819C>T	uc003kbw.3	+	5	6878	c.6637C>T	c.(6637-6639)CGC>TGC	p.R2213C	MAP1B_uc010iyw.1_Missense_Mutation_p.R2230C|MAP1B_uc010iyx.1_Missense_Mutation_p.R2087C|MAP1B_uc010iyy.1_Missense_Mutation_p.R2087C	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		CCCTTCGCCACGCCACCCTGA	0.542													T	71495819	C	T	71495819	3	4	222	1	0	0	0	0	1	0	0	0	9228	536	19	1	6655	1	MAP1B	5	71495819	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08		71495819	109419441	10	114149											
YTHDC2	64848	broad.mit.edu	37	chr5	112868584	112868584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttgtttcagattcctcaGttccttttagatgattgctt	6	8	2	3			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:112868584G>T	uc003kqn.2	+	5	867	c.684G>T	c.(682-684)CAG>CAT	p.Q228H	YTHDC2_uc010jce.1_Missense_Mutation_p.Q228H|YTHDC2_uc010jcf.1_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	228	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		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)		AGATTCCTCAGTTCCTTTTAG	0.264													T	112868584	G	T	112868584	3	4	222	1	0	0	0	0	1	0	0	0	17494	1020	36	5	702	5	YTHDC2	5	112868584	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08	41372765	112868584	68046676	11	114150											
SH3RF2	153769	broad.mit.edu	37	chr5	145435659	145435659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgatccacggcaaagcCgtcccttcaaatccgtcttt	8	13	2	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:145435659C>T	uc003lnt.2	+	8	1676	c.1438C>T	c.(1438-1440)CGT>TGT	p.R480C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R480C|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.2_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	480							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGCAAAGCCGTCCCTTCAA	0.577													T	145435659	C	T	145435659	3	4	222	1	0	0	0	0	1	0	0	0	14259	652	23	1	1464	1	SH3RF2	5	145435659	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	32567075	145435659	35479601	12	114151											
FAT2	2196	broad.mit.edu	37	chr5	150901209	150901209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaacctctgcaggttccGccagtggtcactcaccagct	11	14	3	0	rs142359154		TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:150901209G>A	uc003lue.3	-	18	10958	c.10945C>T	c.(10945-10947)CGG>TGG	p.R3649W	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.R342W	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3649	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607													A	150901209	G	A	150901209	3	1	222	1	0	0	0	0	1	0	0	0	5690	1086	38	1	2128	1	FAT2	5	150901209	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08	5465550	150901209	30014051	13	114152											
DOCK2	1794	broad.mit.edu	37	chr5	169141406	169141406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgtatgaagcctcaacTgctacaggagaatttagaaa	11	7	1	3			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr5:169141406T>C	uc003maf.2	+	19	1966	c.1886T>C	c.(1885-1887)CTG>CCG	p.L629P	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L121P|DOCK2_uc010jjl.1_Missense_Mutation_p.L147P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	629	DHR-1.				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			ovary(5)|pancreas(2)	7	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)			AAGCCTCAACTGCTACAGGAG	0.433													C	169141406	T	C	169141406	3	2	222	1	0	0	0	0	1	0	0	0	4687	1580	55	3	1960	3	DOCK2	5	169141406	Missense_Mutation	SNP	T	TCGA-D7-8575-01A-11D-2340-08	18240197	169141406	11773854	14	114153											
SNAP91	9892	broad.mit.edu	37	chr6	84291982	84291982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaagttgaaggcgttGtcccaaaagctgcctcaaaa	11	9	1	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr6:84291982G>T	uc011dze.1	-	22	2425	c.2108C>A	c.(2107-2109)ACA>AAA	p.T703K	SNAP91_uc011dzd.1_Missense_Mutation_p.T206K|SNAP91_uc003pkb.2_Missense_Mutation_p.T612K|SNAP91_uc003pkc.2_Missense_Mutation_p.T673K|SNAP91_uc003pkd.2_Missense_Mutation_p.T396K|SNAP91_uc003pka.2_Missense_Mutation_p.T701K	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	703					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		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)		TGAAGGCGTTGTCCCAAAAGC	0.458													T	84291982	G	T	84291982	3	4	222	1	0	0	0	0	1	0	0	0	14833	1377	48	5	643	5	SNAP91	6	84291982	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08		84291982	86823085	15	114154											
MICAL1	64780	broad.mit.edu	37	chr6	109770634	109770636	+	In_Frame_Del	DEL	GTT	GTT	-													atccctgtatctgtcttgtcGttgttcctctgcacaggctc							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr6:109770633_109770635CGTT>C	uc011eaq.2	-	10	1832_1834	c.1541_1543AACG>G	c.(1540-1545)aacgac>aGac	p.514_515ND>R	MICAL1_uc003ptj.3_In_Frame_Del_p.495_496ND>R|MICAL1_uc003ptk.3_In_Frame_Del_p.495_496ND>R|MICAL1_uc010kdr.3_In_Frame_Del_p.409_410ND>R	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	495	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGTCTTGTCGTTGTTCCTCTG	0.596													-	109770636	GTT	-	109770634	7	5	222	1	0	1	0	1	0	0	0	0	9569	1136	40	0	1778	0	MICAL1	6	109770634	In_Frame_Del	DEL	GTT	TCGA-D7-8575-01A-11D-2340-08	25478652	109770634	61344433	16	114155											
IKZF1	10320	broad.mit.edu	37	chr7	50459524	50459524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagactagcaagtaacgtCgccaaacgtaagagctctat	9	10	1	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:50459524C>T	uc003tow.3	+	8	981	c.813C>T	c.(811-813)GTC>GTT	p.V271V	IKZF1_uc003tox.3_Silent_p.V229V|IKZF1_uc003toy.3_Silent_p.V229V|IKZF1_uc011kck.1_Silent_p.V184V|IKZF1_uc003toz.3_Silent_p.V241V|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_Silent_p.V23V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	271					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CAAGTAACGTCGCCAAACGTA	0.393			D		ALL								T	50459524	C	T	50459524	2	4	222	1	0	0	0	0	0	0	0	1	7614	871	31	1		1	IKZF1	7	50459524	Silent	SNP	C	TCGA-D7-8575-01A-11D-2340-08		50459524	108679139	17	114156											
CALN1	83698	broad.mit.edu	37	chr7	71488683	71488683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgttcccaagaaaaccatCgcgaccttctgaagacacca	7	14	1	3			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:71488683C>T	uc003twa.3	-	4	861	c.334G>A	c.(334-336)GAT>AAT	p.D112N	CALN1_uc003twb.3_Missense_Mutation_p.D154N|CALN1_uc003twc.3_Missense_Mutation_p.D112N	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	112	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGAAAACCATCGCGACCTTCT	0.418													T	71488683	C	T	71488683	3	4	222	1	0	0	0	0	1	0	0	0	2591	884	31	1	337	1	CALN1	7	71488683	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	21029159	71488683	87649980	18	114157											
HGF	3082	broad.mit.edu	37	chr7	81372752	81372752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctggccatcgggattgCggcaataattatcatcaaag	11	9	2	0			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:81372752C>T	uc003uhl.2	-	7	947	c.782G>A	c.(781-783)CGC>CAC	p.R261H	HGF_uc003uhm.2_Missense_Mutation_p.R256H|HGF_uc003uhn.1_Missense_Mutation_p.R261H|HGF_uc003uho.1_Missense_Mutation_p.R256H	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	261	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						ATCGGGATTGCGGCAATAATT	0.502													T	81372752	C	T	81372752	3	4	222	1	0	0	0	0	1	0	0	0	7085	768	27	1	1464	1	HGF	7	81372752	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	9884069	81372752	77765911	19	114158											
MEST	4232	broad.mit.edu	37	chr7	130144838	130144838	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacattagccactatccaCagctagaggatcccatgggc	8	14	0	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr7:130144838C>T	uc003vqg.2	+	12	1166	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	MEST_uc003vqc.2_Nonsense_Mutation_p.Q308*|MEST_uc003vqd.2_Nonsense_Mutation_p.Q274*|MEST_uc003vqf.2_Nonsense_Mutation_p.Q308*|MEST_uc011kph.1_Nonsense_Mutation_p.Q303*|MEST_uc010lmg.2_Silent_p.H295H	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	317					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					CCACTATCCACAGCTAGAGGA	0.517													T	130144838	C	T	130144838	4	4	222	1	0	0	0	0	0	1	0	0	9484	479	17	4	995	4	MEST	7	130144838	Nonsense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	48772086	130144838	28993825	20	114159											
MSR1	4481	broad.mit.edu	37	chr8	15967658	15967658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtcccccattgccgaAttttacattcttcaatagat	4	12	3	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr8:15967658A>C	uc003wwz.2	-	10	1490	c.1292T>G	c.(1291-1293)ATT>AGT	p.I431S	MSR1_uc010lsu.2_Missense_Mutation_p.I449S|MSR1_uc003wxa.2_Missense_Mutation_p.I368S	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	431	SRCR.|Extracellular (Potential).				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			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCATTGCCGAATTTTACATTC	0.378													C	15967658	A	C	15967658	3	2	222	1	0	0	0	0	1	0	0	0	9886	101	4	5	67	5	MSR1	8	15967658	Missense_Mutation	SNP	A	TCGA-D7-8575-01A-11D-2340-08		15967658	130396364	21	114160											
PTK2B	2185	broad.mit.edu	37	chr8	27293800	27293800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgcccgtgaagatgtgGtcctgaatcgtattcttggg	13	8	1	3			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr8:27293800G>A	uc003xfn.1	+	20	2084	c.1276G>A	c.(1276-1278)GTC>ATC	p.V426I	PTK2B_uc003xfo.1_Missense_Mutation_p.V426I|PTK2B_uc003xfp.1_Missense_Mutation_p.V426I|PTK2B_uc003xfq.1_Missense_Mutation_p.V426I|PTK2B_uc010luq.1_Missense_Mutation_p.V184I|PTK2B_uc003xfr.1_Missense_Mutation_p.V172I	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	426	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGAAGATGTGGTCCTGAATCG	0.498													A	27293800	G	A	27293800	3	1	222	1	0	0	0	0	1	0	0	0	12763	1261	44	4	1330	4	PTK2B	8	27293800	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08	11326142	27293800	119070222	22	114161											
C9orf79	286234	broad.mit.edu	37	chr9	90502005	90502005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggtgaggctcaggcccCgcccttcccacaatccacct	9	18	2	1	rs147060985	byFrequency	TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr9:90502005C>T	uc004app.3	+	4	2638	c.2603C>T	c.(2602-2604)CCG>CTG	p.P868L	C9orf79_uc004apo.1_Missense_Mutation_p.P680L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	868						integral to membrane		p.P868L(1)		ovary(3)	3						GCTCAGGCCCCGCCCTTCCCA	0.552													T	90502005	C	T	90502005	3	4	222	1	0	0	0	0	1	0	0	0	2497	652	23	1	2617	1	C9orf79	9	90502005	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08		90502005	50711426	23	114162											
C9orf43	257169	broad.mit.edu	37	chr9	116191236	116191236	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcggatttccaccacagTgtaaaaagtaagttactaga	8	8	0	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr9:116191236T>C	uc004bho.3	+	13	1560	c.1164T>C	c.(1162-1164)AGT>AGC	p.S388S	C9orf43_uc004bhp.2_Silent_p.S388S	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	388											0						TCCACCACAGTGTAAAAAGTA	0.418													C	116191236	T	C	116191236	2	2	222	1	0	0	0	0	0	0	0	1	2483	1693	59	3		3	C9orf43	9	116191236	Silent	SNP	T	TCGA-D7-8575-01A-11D-2340-08	25689231	116191236	25022195	24	114163											
QSOX2	169714	broad.mit.edu	37	chr9	139100598	139100598	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acggccgggtggtggtgcttGaccttccaccgcctggacct	14	14	0	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr9:139100598G>C	uc010nbi.2	-	12	2111	c.2073C>G	c.(2071-2073)GTC>GTG	p.V691V		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	691					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGTGGTGCTTGACCTTCCACC	0.617													C	139100598	G	C	139100598	2	2	222	1	0	0	0	0	0	0	0	1	12884	1277	45	5		5	QSOX2	9	139100598	Silent	SNP	G	TCGA-D7-8575-01A-11D-2340-08	22909362	139100598	2112833	25	114164											
PHRF1	57661	broad.mit.edu	37	chr11	609019	609019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaagtggccgcagacccGgtcccattccccagagagga	13	13	0	3			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:609019G>A	uc001lqe.2	+	14	3694	c.3563G>A	c.(3562-3564)CGG>CAG	p.R1188Q	PHRF1_uc010qwc.1_Missense_Mutation_p.R1187Q|PHRF1_uc010qwd.1_Missense_Mutation_p.R1186Q|PHRF1_uc010qwe.1_Missense_Mutation_p.R1184Q|PHRF1_uc009ybz.1_Missense_Mutation_p.R978Q|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1188							RNA polymerase binding|zinc ion binding				0						CCGCAGACCCGGTCCCATTCC	0.711													A	609019	G	A	609019	3	1	222	1	0	0	0	0	1	0	0	0	11861	1116	39	1	3610	1	PHRF1	11	609019	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08		609019	134397497	26	114165											
IPO7	10527	broad.mit.edu	37	chr11	9446755	9446756	+	Frame_Shift_Ins	INS	-	-	A													aaccaaatgctgaccctcgaINSaaaaaagatggagccctgca							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:9446754_9446755G>GA	uc001mho.3	+	11	1422_1423	c.1280_1281G>GA	c.(1279-1281)cgafs	p.R427fs		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	427					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity	p.R427Q(2)		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)		GCTGACCCTCGAAAAAAAGATG	0.366													A	9446756	-	A	9446755	7	5	222	1	0	1	1	0	0	0	0	0	7797	233	9	0	1327	0	IPO7	11	9446755	Frame_Shift_Ins	INS	-	TCGA-D7-8575-01A-11D-2340-08	8837736	9446755	125559761	27	114166											
ZNF408	79797	broad.mit.edu	37	chr11	46726259	46726259	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttccctacactctcgCggagccctcctggcccagca	9	19	1	0			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:46726259C>G	uc001nde.1	+	5	1239	c.1009C>G	c.(1009-1011)CGG>GGG	p.R337G	ZNF408_uc010rgw.1_Missense_Mutation_p.R329G	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						TACACTCTCGCGGAGCCCTCC	0.612													G	46726259	C	G	46726259	3	3	222	1	0	0	0	0	1	0	0	0	17885	759	27	5	1059	5	ZNF408	11	46726259	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	37279504	46726259	88280257	28	114167											
OR4A47	403253	broad.mit.edu	37	chr11	48510483	48510483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctcattgtagtgaccGtaactgtcagtgagaccctg	10	11	2	2	rs142333570	byFrequency	TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:48510483G>A	uc010rhx.1	+	1	139	c.139G>A	c.(139-141)GTA>ATA	p.V47I		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGTAGTGACCGTAACTGTCAG	0.418													A	48510483	G	A	48510483	3	1	222	1	0	0	0	0	1	0	0	0	11042	1145	40	1	141	1	OR4A47	11	48510483	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08	1784224	48510483	86496033	29	114168											
TRMT112	51504	broad.mit.edu	37	chr11	64084799	64084799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatacgcgccacgaagttGgggttgaattccacagggca	12	10	1	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:64084799G>A	uc001nzt.2	-	2	152	c.117C>T	c.(115-117)CCC>CCT	p.P39P	PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank	NM_016404	NP_057488	Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog	39	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity				0						CCACGAAGTTGGGGTTGAATT	0.627													A	64084799	G	A	64084799	2	1	222	1	0	0	0	0	0	0	0	1	16560	1335	47	4		4	TRMT112	11	64084799	Silent	SNP	G	TCGA-D7-8575-01A-11D-2340-08	15574316	64084799	70921717	30	114169											
KDM2A	22992	broad.mit.edu	37	chr11	67021038	67021038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcagtaggaatcaaggAccctcaaattcgggacttgc	13	9	2	0			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:67021038A>G	uc001ojw.2	+	19	3911	c.3047A>G	c.(3046-3048)GAC>GGC	p.D1016G	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.D710G|KDM2A_uc001ojz.1_Missense_Mutation_p.D474G|KDM2A_uc001oka.2_Missense_Mutation_p.D140G	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1016					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			ovary(4)|lung(3)|breast(1)|skin(1)	9						GGAATCAAGGACCCTCAAATT	0.552													G	67021038	A	G	67021038	3	3	222	1	0	0	0	0	1	0	0	0	8124	275	10	3	3117	3	KDM2A	11	67021038	Missense_Mutation	SNP	A	TCGA-D7-8575-01A-11D-2340-08	2936239	67021038	67985478	31	114170											
CARNS1	57571	broad.mit.edu	37	chr11	67191316	67191316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccatgagcacttttcCcggattacccgagacttgca	9	13	0	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:67191316C>T	uc009yrp.2	+	9	2180	c.1728C>T	c.(1726-1728)TCC>TCT	p.S576S	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Silent_p.S715S	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	576	ATP-grasp.|ATP (By similarity).			S -> P (in Ref. 3; BAF82627).	carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						AGCACTTTTCCCGGATTACCC	0.632													T	67191316	C	T	67191316	2	4	222	1	0	0	0	0	0	0	0	1	2656	610	22	4		4	CARNS1	11	67191316	Silent	SNP	C	TCGA-D7-8575-01A-11D-2340-08	170278	67191316	67815200	32	114171											
USP35	57558	broad.mit.edu	37	chr11	77921697	77921697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccagggaggggcccgaGgctgagttgggctcttctag	18	11	2	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:77921697G>A	uc009yva.1	+	10	3042	c.2796G>A	c.(2794-2796)GAG>GAA	p.E932E	USP35_uc001oze.2_Silent_p.E688E|USP35_uc001ozc.2_Silent_p.E500E|USP35_uc010rsp.1_Silent_p.E364E|USP35_uc001ozd.2_Silent_p.E543E|USP35_uc001ozf.2_Silent_p.E663E	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	932					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	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)			AGGGGCCCGAGGCTGAGTTGG	0.552													A	77921697	G	A	77921697	2	1	222	1	0	0	0	0	0	0	0	1	17063	991	35	4		4	USP35	11	77921697	Silent	SNP	G	TCGA-D7-8575-01A-11D-2340-08	10730381	77921697	57084819	33	114172											
ATM	472	broad.mit.edu	37	chr11	108172425	108172426	+	Frame_Shift_Ins	INS	-	-	A													ttgaaaaacattttagccacINSaaagactggacatagtttct							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:108172425_108172426insA	uc001pkb.1	+	35	5613_5614	c.5228_5229insA	c.(5227-5229)ACAfs	p.T1743fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.T1743fs|ATM_uc001pke.1_Frame_Shift_Ins_p.T395fs|ATM_uc001pkg.1_Frame_Shift_Ins_p.T100fs|ATM_uc009yxt.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1743			T -> I (in AT; associated with preleukemic T-cell proliferation).		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	p.T1743I(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		ATTTTAGCCACAAAGACTGGAC	0.361			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)			A	108172426	-	A	108172425	7	5	222	1	0	1	1	0	0	0	0	0	1109	478	17	0	5362	0	ATM	11	108172425	Frame_Shift_Ins	INS	-	TCGA-D7-8575-01A-11D-2340-08	30250728	108172425	26834091	34	114173	539	2									
ATM	472	broad.mit.edu	37	chr11	108172426	108172427	+	Frame_Shift_Ins	INS	-	-	A													tgaaaaacattttagccacaINSaagactggacatagtttctg							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:108172425_108172426C>CA	uc001pkb.1	+	34	5613_5614	c.5228_5229C>CA	c.(5227-5229)acafs	p.T1743fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.T1743fs|ATM_uc001pke.2_Frame_Shift_Ins_p.T395fs|ATM_uc001pkg.1_Frame_Shift_Ins_p.T100fs|ATM_uc009yxt.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1743			T -> I (in AT; associated with preleukemic T-cell proliferation).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|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 N-terminus binding|protein complex binding|protein dimerization activity	p.T1743I(2)|p.A1742P(2)		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)		ATTTTAGCCACAAAGACTGGAC	0.361			"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)			A	108172427	-	A	108172426	7	5	222	1	0	1	1	0	0	0	0	0	1109	117	5	0	5363	0	ATM	11	108172426	Frame_Shift_Ins	INS	-	TCGA-D7-8575-01A-11D-2340-08	1	108172426	26834090	35	114174	539	2									
CD3G	917	broad.mit.edu	37	chr11	118215190	118215190	+	Frame_Shift_Del	DEL	C	C	-													tcctggctatcattcttcttCaaggtaagggcctactaggg							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr11:118215190delC	uc001psu.2	+	1	132	c.52delC	c.(52-54)CAAfs	p.Q18fs	CD3D_uc001pss.1_5'Flank|CD3D_uc001pst.1_5'Flank	NM_000073	NP_000064	P09693	CD3G_HUMAN	CD3G antigen, gamma polypeptide precursor	18					establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity				0	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;3.04e-05)		CATTCTTCTTCAAGGTAAGGG	0.532													-	118215190	C	-	118215190	7	5	222	1	0	1	0	1	0	0	0	0	3013	827	29	0	54	0	CD3G	11	118215190	Frame_Shift_Del	DEL	C	TCGA-D7-8575-01A-11D-2340-08	10042764	118215190	16791326	36	114175											
A2M	2	broad.mit.edu	37	chr12	9264996	9264996	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgccctggtttgtagattGatttgtctgtctggacaaag	11	7	3	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:9264996G>T	uc001qvk.1	-	3	520	c.407C>A	c.(406-408)TCA>TAA	p.S136*	A2M_uc009zgk.1_Intron	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	136					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTTGTAGATTGATTTGTCTGT	0.463													T	9264996	G	T	9264996	4	4	222	1	0	0	0	0	0	1	0	0	4	1294	45	5	4153	5	A2M	12	9264996	Nonsense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08		9264996	124586899	37	114176											
OVCH1	341350	broad.mit.edu	37	chr12	29639273	29639273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgagaggggttggccccGatccaaacctgtaaaaggta	12	8	0	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:29639273G>A	uc001rix.1	-	8	901	c.901C>T	c.(901-903)CGG>TGG	p.R301W		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	301	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGTTGGCCCCGATCCAAACCT	0.388													A	29639273	G	A	29639273	3	1	222	1	0	0	0	0	1	0	0	0	11323	1057	37	1	2587	1	OVCH1	12	29639273	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08	20374277	29639273	104212622	38	114177											
SP7	121340	broad.mit.edu	37	chr12	53722840	53722841	+	Frame_Shift_Ins	INS	-	-	AGAG													ataggggtgtgtcatgtccaINSgagaggtgtagacactgggc							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:53722839_53722840C>CAGAG	uc001sct.3	-	1	493_494	c.386_387G>CTCTG	c.(385-387)ctgfs	p.L129fs	SP7_uc001scv.3_Frame_Shift_Ins_p.L129fs|SP7_uc001scu.3_Frame_Shift_Ins_p.L111fs	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	129					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						GTGTCATGTCCAGAGAGGTGTA	0.594													AGAG	53722841	-	AGAG	53722840	7	5	222	1	0	1	1	0	0	0	0	0	14969	188	7	0	913	0	SP7	12	53722840	Frame_Shift_Ins	INS	-	TCGA-D7-8575-01A-11D-2340-08	24083567	53722840	80129055	39	114178											
OR6C1	390321	broad.mit.edu	37	chr12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctccatattagaaatttCgttcacaaccgtcagtatac	4	10	3	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:55714592C>T	uc010spi.1	+	1	209	c.209C>T	c.(208-210)TCG>TTG	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						TTAGAAATTTCGTTCACAACC	0.378													T	55714592	C	T	55714592	3	4	222	1	0	0	0	0	1	0	0	0	11190	893	31	1	211	1	OR6C1	12	55714592	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	1991752	55714592	78137303	40	114179											
TCTN1	79600	broad.mit.edu	37	chr12	111052045	111052045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggctgctgggcctccGtgagcgcccagaccgatgcc	14	16	0	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr12:111052045G>A	uc009zvs.2	+	1	166	c.58G>A	c.(58-60)GTG>ATG	p.V20M	TCTN1_uc010syb.1_Missense_Mutation_p.V20M|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Translation_Start_Site|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.V20M|TCTN1_uc001trn.3_Missense_Mutation_p.V20M|TCTN1_uc001tri.2_Translation_Start_Site|TCTN1_uc001trj.1_Translation_Start_Site|TCTN1_uc001trk.3_RNA	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	20					multicellular organismal development	extracellular region					0						CTGGGCCTCCGTGAGCGCCCA	0.711													A	111052045	G	A	111052045	3	1	222	1	0	0	0	0	1	0	0	0	15719	1145	40	1	60	1	TCTN1	12	111052045	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08	55337453	111052045	22799850	41	114180											
SLITRK1	114798	broad.mit.edu	37	chr13	84453672	84453672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaattaatctcggacgcGgaggagttggcatctcgtct	14	8	3	0	rs77908553	byFrequency	TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr13:84453672G>A	uc001vlk.2	-	1	2857	c.1971C>T	c.(1969-1971)TCC>TCT	p.S657S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	657	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTCGGACGCGGAGGAGTTGG	0.552													A	84453672	G	A	84453672	2	1	222	1	0	0	0	0	0	0	0	1	14742	1103	39	1		1	SLITRK1	13	84453672	Silent	SNP	G	TCGA-D7-8575-01A-11D-2340-08		84453672	30716206	42	114181											
OR10G3	26533	broad.mit.edu	37	chr14	22038804	22038805	+	Frame_Shift_Ins	INS	-	-	CCTTA													agaacacaaaaaagagtgtcINScttagcctgagtggatacgg							TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr14:22038803_22038804T>TCCTTA	uc010tmb.2	-	0	72_73	c.72_73A>TAAGGA	c.(70-75)aggacafs	p.R24fs		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R24S(2)		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)		AAAAAGAGTGTCCTTAGCCTGA	0.446													CCTTA	22038805	-	CCTTA	22038804	7	5	222	1	0	1	1	0	0	0	0	0	10900	854	30	0	872	0	OR10G3	14	22038804	Frame_Shift_Ins	INS	-	TCGA-D7-8575-01A-11D-2340-08		22038804	85310736	43	114182											
NTRK3	4916	broad.mit.edu	37	chr15	88680668	88680668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatgcggaagagaggaaGctgggagccatcagcgttga	16	7	2	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr15:88680668G>A	uc002bme.1	-	6	751	c.589C>T	c.(589-591)CTT>TTT	p.L197F	NTRK3_uc002bmh.2_Missense_Mutation_p.L197F|NTRK3_uc002bmf.1_Missense_Mutation_p.L197F|NTRK3_uc010upl.1_Missense_Mutation_p.L99F|NTRK3_uc010bnh.1_Missense_Mutation_p.L197F|NTRK3_uc002bmg.2_Missense_Mutation_p.L197F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	197	Extracellular (Potential).|LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGAGGAAGCTGGGAGCCA	0.607			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			A	88680668	G	A	88680668	3	1	222	1	0	0	0	0	1	0	0	0	10708	971	34	2	2248	2	NTRK3	15	88680668	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08		88680668	13850724	44	114183											
ARHGDIG	398	broad.mit.edu	37	chr16	332693	332693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactccggtggaggaagCgccgaggggtgcgctggtgc	20	9	0	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr16:332693C>T	uc002cgm.1	+	6	632	c.557C>T	c.(556-558)GCG>GTG	p.A186V	PDIA2_uc002cgn.1_5'UTR|PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_5'Flank	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	186					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			central_nervous_system(1)	1		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)				GTGGAGGAAGCGCCGAGGGGT	0.642													T	332693	C	T	332693	3	4	222	1	0	0	0	0	1	0	0	0	892	768	27	1	579	1	ARHGDIG	16	332693	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08		332693	90022060	45	114184											
CREBBP	1387	broad.mit.edu	37	chr16	3781465	3781465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcgtgcaggtggatcaCgaagaagacctgcaggagag	15	10	1	3			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr16:3781465C>T	uc002cvv.2	-	30	5104	c.4900G>A	c.(4900-4902)GTG>ATG	p.V1634M	CREBBP_uc002cvw.2_Missense_Mutation_p.V1596M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1634	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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGTGGATCACGAAGAAGACC	0.642			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3781465	C	T	3781465	3	4	222	1	0	0	0	0	1	0	0	0	3861	536	19	1	2436	1	CREBBP	16	3781465	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	3448772	3781465	86573288	46	114185											
LRRC50	123872	broad.mit.edu	37	chr16	84209614	84209614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaactggactacacgtcaCtccctgtgctggaaaacctc	8	14	1	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr16:84209614C>A	uc002fhl.3	+	11	1955	c.1774C>A	c.(1774-1776)CTC>ATC	p.L592I	LRRC50_uc010vnw.1_Missense_Mutation_p.L356I	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	592					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						CTACACGTCACTCCCTGTGCT	0.473									Kartagener_syndrome		OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	84209614	C	A	84209614	3	1	222	1	0	0	0	0	1	0	0	0	9009	565	20	5	1816	5	LRRC50	16	84209614	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	80428149	84209614	6145139	47	114186											
DNAH9	1770	broad.mit.edu	37	chr17	11687794	11687794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaattgctaccaccttcCtacccacaggaatcaaattc	4	13	1	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:11687794C>T	uc002gne.2	+	41	8067	c.7999C>T	c.(7999-8001)CTA>TTA	p.L2667L	DNAH9_uc010coo.2_Silent_p.L1961L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2667	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TACCACCTTCCTACCCACAGG	0.522													T	11687794	C	T	11687794	2	4	222	1	0	0	0	0	0	0	0	1	4608	680	24	4		4	DNAH9	17	11687794	Silent	SNP	C	TCGA-D7-8575-01A-11D-2340-08		11687794	69507416	48	114187											
C17orf75	64149	broad.mit.edu	37	chr17	30660530	30660530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccaatcctcacaaaacCggttacttcctataaaacat	3	13	1	0			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:30660530C>T	uc002hhg.2	-	9	912	c.881G>A	c.(880-882)CGG>CAG	p.R294Q		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	294					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CTCACAAAACCGGTTACTTCC	0.264													T	30660530	C	T	30660530	3	4	222	1	0	0	0	0	1	0	0	0	1880	652	23	1	317	1	C17orf75	17	30660530	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	18972736	30660530	50534680	49	114188											
KRT24	192666	broad.mit.edu	37	chr17	38859549	38859549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccagagaaaagcccccCatcgccaacaccacctccca	4	22	0	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:38859549C>T	uc002hvd.2	-	1	454	c.397G>A	c.(397-399)GGG>AGG	p.G133R		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	133	Head.|Gly-rich.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				AAAAGCCCCCCATCGCCAACA	0.542													T	38859549	C	T	38859549	3	4	222	1	0	0	0	0	1	0	0	0	8461	594	21	4	1212	4	KRT24	17	38859549	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	8199019	38859549	42335661	50	114189											
ERN1	2081	broad.mit.edu	37	chr17	62144105	62144105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgccccacctccccagaCatgaaggtcagatagcgcag	10	15	1	3			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr17:62144105C>T	uc002jdz.2	-	8	881	c.768G>A	c.(766-768)ATG>ATA	p.M256I		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	256	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CCTCCCCAGACATGAAGGTCA	0.587													T	62144105	C	T	62144105	3	4	222	1	0	0	0	0	1	0	0	0	5237	478	17	4	2225	4	ERN1	17	62144105	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	23284556	62144105	19051105	51	114190											
MCOLN1	57192	broad.mit.edu	37	chr19	7593728	7593728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgtggggttcatgtggCggcagcggggacgggtcatc	19	7	2	0			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr19:7593728C>T	uc002mgo.2	+	9	1131	c.1006C>T	c.(1006-1008)CGG>TGG	p.R336W	MCOLN1_uc002mgp.2_Missense_Mutation_p.R301W	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	336					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(1)	1						GTTCATGTGGCGGCAGCGGGG	0.632													T	7593728	C	T	7593728	3	4	222	1	0	0	0	0	1	0	0	0	9395	759	27	1	1040	1	MCOLN1	19	7593728	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08		7593728	51535255	52	114191											
KIAA0355	9710	broad.mit.edu	37	chr19	34824689	34824689	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctctagaatcgtggtTcaagtcccatccacatggta	10	10	2	1			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr19:34824689T>A	uc002nvd.3	+	8	2203	c.1344T>A	c.(1342-1344)GTT>GTA	p.V448V		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	448										ovary(1)	1	Esophageal squamous(110;0.162)					GAATCGTGGTTCAAGTCCCAT	0.438													A	34824689	T	A	34824689	2	1	222	1	0	0	0	0	0	0	0	1	8170	1770	62	5		5	KIAA0355	19	34824689	Silent	SNP	T	TCGA-D7-8575-01A-11D-2340-08	27230961	34824689	24304294	53	114192											
SAE1	10055	broad.mit.edu	37	chr19	47700550	47700550	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatacatatgaggaagAttctgagttgttgctccaga	10	6	2	5			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chr19:47700550A>T	uc002pgc.2	+	7	850	c.794A>T	c.(793-795)GAT>GTT	p.D265V	SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.D91V|SAE1_uc002pge.2_Missense_Mutation_p.D201V	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	265					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			ovary(1)	1		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)		TATGAGGAAGATTCTGAGTTG	0.418													T	47700550	A	T	47700550	3	4	222	1	0	0	0	0	1	0	0	0	13805	333	12	5	820	5	SAE1	19	47700550	Missense_Mutation	SNP	A	TCGA-D7-8575-01A-11D-2340-08	12875861	47700550	11428433	54	114193											
PCDH11X	27328	broad.mit.edu	37	chrX	91132496	91132496	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtaatcagttcctcctggaGactgcagcatatcttgacta	8	10	2	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:91132496G>C	uc004efk.1	+	2	2102	c.1257G>C	c.(1255-1257)GAG>GAC	p.E419D	PCDH11X_uc004efl.1_Missense_Mutation_p.E419D|PCDH11X_uc004efo.1_Missense_Mutation_p.E419D|PCDH11X_uc010nmv.1_Missense_Mutation_p.E419D|PCDH11X_uc004efm.1_Missense_Mutation_p.E419D|PCDH11X_uc004efn.1_Missense_Mutation_p.E419D|PCDH11X_uc004efh.1_Missense_Mutation_p.E419D|PCDH11X_uc004efj.1_Missense_Mutation_p.E419D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	419	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TCCTCCTGGAGACTGCAGCAT	0.443													C	91132496	G	C	91132496	3	2	222	1	0	0	0	0	1	0	0	0	11508	933	33	5	1263	5	PCDH11X	23	91132496	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08		91132496	64138064	55	114194											
GPRASP1	9737	broad.mit.edu	37	chrX	101908902	101908902	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaaaagaagcctggggaaGaggttgtaggtggggctgag	19	4	0	4			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:101908902G>T	uc004ejj.3	+	5	862	c.61G>T	c.(61-63)GAG>TAG	p.E21*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.E21*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.E21*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	21						cytoplasm	protein binding			ovary(1)|lung(1)	2						GCCTGGGGAAGAGGTTGTAGG	0.532													T	101908902	G	T	101908902	4	4	222	1	0	0	0	0	0	1	0	0	6722	943	33	5	63	5	GPRASP1	23	101908902	Nonsense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08	10776406	101908902	53361658	56	114195											
SLITRK4	139065	broad.mit.edu	37	chrX	142717775	142717775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgctattgccattgaCgtgcagcttcttcgcattta	8	10	1	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:142717775C>T	uc004fbx.2	-	2	1526	c.1150G>A	c.(1150-1152)GTC>ATC	p.V384I	SLITRK4_uc004fby.2_Missense_Mutation_p.V384I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	384	Extracellular (Potential).|LRR 7.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCATTGACGTGCAGCTTC	0.403													T	142717775	C	T	142717775	3	4	222	1	0	0	0	0	1	0	0	0	14745	536	19	1	1367	1	SLITRK4	23	142717775	Missense_Mutation	SNP	C	TCGA-D7-8575-01A-11D-2340-08	40808873	142717775	12552785	57	114196											
MAGEA12	4111	broad.mit.edu	37	chrX	151900012	151900012	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagcatgcaggatcactGccggggacctgccggtactc	13	13	1	0			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrX:151900012G>T	uc010ntp.2	-	3	1143	c.789C>A	c.(787-789)GGC>GGA	p.G263G	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.G263G	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	263	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGATCACTGCCGGGGACCT	0.552													T	151900012	G	T	151900012	2	4	222	1	0	0	0	0	0	0	0	1	9166	1306	46	5		5	MAGEA12	23	151900012	Silent	SNP	G	TCGA-D7-8575-01A-11D-2340-08	9182237	151900012	3370548	58	114197											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968065	4968065	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaatgctacactgattaatGaactggtgcgcaaaagcatt	8	9	0	2			TCGA-D7-8575-01A-11D-2340-08	TCGA-D7-8575-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0129d2a-9f88-4283-9939-d21510769627	121d09e2-8ac7-45cd-9e5e-d9261a7b50ec	g.chrY:4968065G>C	uc004fqo.2	+	2	3180	c.2446G>C	c.(2446-2448)GAA>CAA	p.E816Q	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E805Q|PCDH11Y_uc004fql.1_Missense_Mutation_p.E805Q|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E805Q|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E816Q|PCDH11Y_uc004fqp.1_Missense_Mutation_p.E587Q	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	816	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						ACTGATTAATGAACTGGTGCG	0.438													C	4968065	G	C	4968065	3	2	222	1	0	0	0	0	1	0	0	0	11509	1291	45	5	2488	5	PCDH11Y	24	4968065	Missense_Mutation	SNP	G	TCGA-D7-8575-01A-11D-2340-08		4968065	54405501	59	114198											
CAMTA1	23261	broad.mit.edu	37	chr1	7725168	7725168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgccgaggtggtctcggCcgcctcggcccagggcaccc	15	18	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr1:7725168C>A	uc001aoi.2	+	9	2768	c.2561C>A	c.(2560-2562)GCC>GAC	p.A854D		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	854					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		GTGGTCTCGGCCGCCTCGGCC	0.672													A	7725168	C	A	7725168	3	1	223	1	0	0	0	0	1	0	0	0	2613	739	26	5	2595	5	CAMTA1	1	7725168	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		7725168	241525453	1	114199											
EPHA2	1969	broad.mit.edu	37	chr1	16460017	16460017	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacacaggatggatggAtctcggtagtgaacttcaac	13	7	2	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr1:16460017A>C	uc001aya.1	-	10	1960	c.1823T>G	c.(1822-1824)ATC>AGC	p.I608S		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	608	Mediates interaction with ARHGEF16 and ELMO2.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	GGATGGATGGATCTCGGTAGT	0.592													C	16460017	A	C	16460017	3	2	223	1	0	0	0	0	1	0	0	0	5167	333	12	5	1139	5	EPHA2	1	16460017	Missense_Mutation	SNP	A	TCGA-D7-8576-01A-11D-2340-08	8734849	16460017	232790604	2	114200											
HPCAL4	51440	broad.mit.edu	37	chr1	40150246	40150246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggtcctccagcacctcGggggccagcttgctgttggt	13	13	0	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr1:40150246G>A	uc001cdr.2	-	2	150	c.30C>T	c.(28-30)CCC>CCT	p.P10P	HPCAL4_uc010oix.1_Silent_p.P10P	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	10					central nervous system development	intracellular	calcium ion binding	p.P10H(1)		central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-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;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)			CCAGCACCTCGGGGGCCAGCT	0.627													A	40150246	G	A	40150246	2	1	223	1	0	0	0	0	0	0	0	1	7331	1103	39	1		1	HPCAL4	1	40150246	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	23690229	40150246	209100375	3	114201											
KCNJ10	3766	broad.mit.edu	37	chr1	160011396	160011396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggcaggtgtgaactcGtagccccaaaggatctcctc	12	11	1	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr1:160011396G>A	uc001fuw.1	-	2	1077	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	309	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGTGAACTCGTAGCCCCAAA	0.532													A	160011396	G	A	160011396	2	1	223	1	0	0	0	0	0	0	0	1	8044	1140	40	1		1	KCNJ10	1	160011396	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	119861150	160011396	89239225	4	114202											
GLT25D2	23127	broad.mit.edu	37	chr1	183938600	183938600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtctggggtcctcttaTagaagccctgtaaaagagca	11	9	2	2	rs35937944	byFrequency	TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr1:183938600T>C	uc001gqr.2	-	5	1007	c.635A>G	c.(634-636)TAT>TGT	p.Y212C	GLT25D2_uc010poj.1_Missense_Mutation_p.Y212C|GLT25D2_uc001gqs.2_Missense_Mutation_p.Y92C	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	212					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						GGTCCTCTTATAGAAGCCCTG	0.463													C	183938600	T	C	183938600	3	2	223	1	0	0	0	0	1	0	0	0	6467	1406	49	3	1277	3	GLT25D2	1	183938600	Missense_Mutation	SNP	T	TCGA-D7-8576-01A-11D-2340-08	23927204	183938600	65312021	5	114203											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200818182	200818182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaactagaagaaaagaggcGtgctatagaagcccagaaaa	11	6	0	5			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr1:200818182G>A	uc001gvl.2	+	12	2588	c.2318G>A	c.(2317-2319)CGT>CAT	p.R773H	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R762H|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R746H	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	773						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GAAAAGAGGCGTGCTATAGAA	0.448													A	200818182	G	A	200818182	3	1	223	1	0	0	0	0	1	0	0	0	2612	1145	40	1	2327	1	CAMSAP1L1	1	200818182	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	16879582	200818182	48432439	6	114204											
EHD3	30845	broad.mit.edu	37	chr2	31489161	31489161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtgctagtgcgccaggAggagtcacagcggcccatcc	14	13	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr2:31489161A>G	uc002rnu.2	+	6	1807	c.1199A>G	c.(1198-1200)GAG>GGG	p.E400G	EHD3_uc010ymt.1_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	400					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			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GTGCGCCAGGAGGAGTCACAG	0.622													G	31489161	A	G	31489161	3	3	223	1	0	0	0	0	1	0	0	0	4979	304	11	3	1221	3	EHD3	2	31489161	Missense_Mutation	SNP	A	TCGA-D7-8576-01A-11D-2340-08		31489161	211710212	7	114205											
LRRTM4	80059	broad.mit.edu	37	chr2	77746894	77746894	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacatctgcagttctttgggCaagctctctgagcacccgtg	10	13	3	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr2:77746894C>G	uc002snr.2	-	3	516	c.101G>C	c.(100-102)TGC>TCC	p.C34S	LRRTM4_uc002snq.2_Missense_Mutation_p.C34S|LRRTM4_uc002sns.2_Missense_Mutation_p.C34S|LRRTM4_uc002snt.2_Missense_Mutation_p.C35S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	34	Extracellular (Potential).|LRRNT.					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GTTCTTTGGGCAAGCTCTCTG	0.473													G	77746894	C	G	77746894	3	3	223	1	0	0	0	0	1	0	0	0	9042	710	25	5	1685	5	LRRTM4	2	77746894	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	46257733	77746894	165452479	8	114206											
MARCH4	57574	broad.mit.edu	37	chr2	217142429	217142429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgaagccatacatcccGtagcagatctggaagagaag	10	10	1	3	rs138565372	by1000genomes	TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr2:217142429G>A	uc002vgb.2	-	3	2598	c.831C>T	c.(829-831)TAC>TAT	p.Y277Y		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	277	Helical; (Potential).					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CATACATCCCGTAGCAGATCT	0.557													A	217142429	G	A	217142429	2	1	223	1	0	0	0	0	0	0	0	1	9303	1140	40	1		1	MARCH4	2	217142429	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	139395535	217142429	26056944	9	114207											
KIF1A	547	broad.mit.edu	37	chr2	241709052	241709052	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccgctgcacacctctccatCcggatggcttctgtccgccg	9	19	2	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr2:241709052C>A	uc002vzy.2	-	15	1532	c.1386G>T	c.(1384-1386)CGG>CGT	p.R462R	KIF1A_uc010fzk.2_Silent_p.R471R|KIF1A_uc002vzz.1_Silent_p.R471R	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	462	Potential.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		ACCTCTCCATCCGGATGGCTT	0.622													A	241709052	C	A	241709052	2	1	223	1	0	0	0	0	0	0	0	1	8283	842	30	5		5	KIF1A	2	241709052	Silent	SNP	C	TCGA-D7-8576-01A-11D-2340-08	24566623	241709052	1490321	10	114208											
COL7A1	1294	broad.mit.edu	37	chr3	48630223	48630223	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctacctcctgccgctcactCggcagtggctgtcccagccc	9	20	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr3:48630223C>T	uc003ctz.2	-	6	832	c.831G>A	c.(829-831)CCG>CCA	p.P277P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	277	Nonhelical region (NC1).|Fibronectin type-III 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCGCTCACTCGGCAGTGGCT	0.607													T	48630223	C	T	48630223	2	4	223	1	0	0	0	0	0	0	0	1	3704	871	31	1		1	COL7A1	3	48630223	Silent	SNP	C	TCGA-D7-8576-01A-11D-2340-08		48630223	149392207	11	114209											
WDR6	11180	broad.mit.edu	37	chr3	49049728	49049728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagaatattgggcactGctttgggcacagcgcccgtg	15	10	0	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr3:49049728G>A	uc003cvj.2	+	2	989	c.851G>A	c.(850-852)TGC>TAC	p.C284Y	WDR6_uc011bbx.1_Missense_Mutation_p.C155Y|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.C228Y|WDR6_uc011bbz.1_Missense_Mutation_p.C203Y	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	254					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				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)		ATTGGGCACTGCTTTGGGCAC	0.557													A	49049728	G	A	49049728	3	1	223	1	0	0	0	0	1	0	0	0	17307	1319	46	2	857	2	WDR6	3	49049728	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	419505	49049728	148972702	12	114210											
GRM2	2912	broad.mit.edu	37	chr3	51747088	51747088	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggttccgtgaattctgggaGcagaggttccgctgcagctt	14	9	1	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr3:51747088G>C	uc010hlv.2	+	3	1289	c.1050G>C	c.(1048-1050)GAG>GAC	p.E350D	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	350	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	AATTCTGGGAGCAGAGGTTCC	0.592													C	51747088	G	C	51747088	3	2	223	1	0	0	0	0	1	0	0	0	6797	962	34	5	1056	5	GRM2	3	51747088	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	2697360	51747088	146275342	13	114211											
SPON2	10417	broad.mit.edu	37	chr4	1164196	1164196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgtccgttacctgaggCgctgtctacaatctcattgt	9	10	2	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr4:1164196C>T	uc003gcn.3	-	4	832	c.805G>A	c.(805-807)GCC>ACC	p.A269T	SPON2_uc003gco.3_Missense_Mutation_p.A269T|SPON2_uc010ibr.2_Missense_Mutation_p.A269T|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	269					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TTACCTGAGGCGCTGTCTACA	0.617													T	1164196	C	T	1164196	3	4	223	1	0	0	0	0	1	0	0	0	15082	768	27	1	198	1	SPON2	4	1164196	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		1164196	189990080	14	114212											
CENPC1	1060	broad.mit.edu	37	chr4	68383923	68383923	+	Frame_Shift_Del	DEL	T	T	-													taaaaacaatgttgaaaaacTttttttagcttgtcgttgaa							TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr4:68383923delT	uc003hdd.1	-	7	964	c.781delA	c.(781-783)AGTfs	p.S261fs	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Frame_Shift_Del_p.S261fs	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	261	Nuclear localization signal (Potential).				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						GTTGAAAAACTTTTTTTAGCT	0.313													-	68383923	T	-	68383923	7	5	223	1	0	1	0	1	0	0	0	0	3229	1609	56	0	2102	0	CENPC1	4	68383923	Frame_Shift_Del	DEL	T	TCGA-D7-8576-01A-11D-2340-08	67219727	68383923	122770353	15	114213											
WDFY3	23001	broad.mit.edu	37	chr4	85617299	85617299	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagattaagtcaatccactCatgtagatgggcactcacgt	9	9	3	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr4:85617299C>T	uc003hpd.2	-	58	9133	c.8725G>A	c.(8725-8727)GAG>AAG	p.E2909K	WDFY3_uc003hpe.1_Missense_Mutation_p.E520K	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2909	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAATCCACTCATGTAGATGG	0.403													T	85617299	C	T	85617299	3	4	223	1	0	0	0	0	1	0	0	0	17267	835	29	4	1899	4	WDFY3	4	85617299	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	17233376	85617299	105536977	16	114214											
SEC24B	10427	broad.mit.edu	37	chr4	110460756	110460756	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagaattttttcagcatttGattgaagaccggacagaggc	11	7	1	5			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr4:110460756G>A	uc003hzk.2	+	24	3787	c.3732G>A	c.(3730-3732)TTG>TTA	p.L1244L	SEC24B_uc003hzl.2_Silent_p.L1209L|SEC24B_uc011cfp.1_Silent_p.L1274L|SEC24B_uc011cfq.1_Silent_p.L1243L|SEC24B_uc011cfr.1_Silent_p.L1208L	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1244					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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCAGCATTTGATTGAAGACC	0.308													A	110460756	G	A	110460756	2	1	223	1	0	0	0	0	0	0	0	1	13995	1281	45	4		4	SEC24B	4	110460756	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	24843457	110460756	80693520	17	114215											
TTC29	83894	broad.mit.edu	37	chr4	147755035	147755035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctgtggagattttacaGtaagtgtcaaggacctatca	11	6	3	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr4:147755035G>A	uc003ikw.3	-	9	1127	c.900C>T	c.(898-900)TAC>TAT	p.Y300Y	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.Y326Y|TTC29_uc010ipd.1_Silent_p.Y300Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	300	TPR 3.						binding				0	all_hematologic(180;0.151)					AGATTTTACAGTAAGTGTCAA	0.393													A	147755035	G	A	147755035	2	1	223	1	0	0	0	0	0	0	0	1	16693	1024	36	4		4	TTC29	4	147755035	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	37294279	147755035	43399241	18	114216											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140749	140749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccactcagcaggctccagGcctgggggccacctaggagg	14	15	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr5:140749G>A	uc003jak.2	+	1	377	c.327G>A	c.(325-327)AGG>AGA	p.R109R		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	109					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGGCTCCAGGCCTGGGGGCC	0.647													A	140749	G	A	140749	2	1	223	1	0	0	0	0	0	0	0	1	12072	1194	42	2		2	PLEKHG4B	5	140749	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08		140749	180774511	19	114217											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgctcggaggatagccGtaatgtttgtatagatggga	13	6	0	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr5:5237184G>A	uc003jdl.2	+	14	2264	c.2126G>A	c.(2125-2127)CGT>CAT	p.R709H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R709H|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	709	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GAGGATAGCCGTAATGTTTGT	0.279													A	5237184	G	A	5237184	3	1	223	1	0	0	0	0	1	0	0	0	261	1145	40	1	2180	1	ADAMTS16	5	5237184	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	5096435	5237184	175678076	20	114218											
AMACR	23600	broad.mit.edu	37	chr5	33989517	33989517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accactctgccttcgtcttcTctgcaaatacatctgcaaac	4	15	4	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr5:33989517T>G	uc003jig.2	-	5	912	c.830A>C	c.(829-831)GAG>GCG	p.E277A	AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.E262A|AMACR_uc003jij.2_Missense_Mutation_p.E277A	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	277					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						CTTCGTCTTCTCTGCAAATAC	0.443													G	33989517	T	G	33989517	3	3	223	1	0	0	0	0	1	0	0	0	562	1551	54	5	380	5	AMACR	5	33989517	Missense_Mutation	SNP	T	TCGA-D7-8576-01A-11D-2340-08	28752333	33989517	146925743	21	114219											
PCDHA9	9752	broad.mit.edu	37	chr5	140229393	140229393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccttcactgtgggccaCggccagggtgtctgtggagg	16	12	2	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr5:140229393C>T	uc003lhu.2	+	1	2037	c.1313C>T	c.(1312-1314)ACG>ATG	p.T438M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.T438M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	438	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTG	0.657													T	140229393	C	T	140229393	3	4	223	1	0	0	0	0	1	0	0	0	11531	536	19	1	1315	1	PCDHA9	5	140229393	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	106239876	140229393	40685867	22	114220											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782934	140782934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttccaggccgaaagtctgGaagtaaaaattaacgaaatc	9	7	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr5:140782934G>A	uc003lkh.1	+	1	415	c.415G>A	c.(415-417)GAA>AAA	p.E139K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.E139K	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	139	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAAGTCTGGAAGTAAAAAT	0.458													A	140782934	G	A	140782934	3	1	223	1	0	0	0	0	1	0	0	0	11561	1175	41	4	417	4	PCDHGA9	5	140782934	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	553541	140782934	40132326	23	114221			1	54		2	2	16	G		3.343319e-05
PCDHGA9	56107	broad.mit.edu	37	chr5	140782949	140782949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctggaagtaaaaattaacGaaatcgcggttcctggagca	11	7	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr5:140782949G>A	uc003lkh.1	+	1	430	c.430G>A	c.(430-432)GAA>AAA	p.E144K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.E144K	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	144	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTAACGAAATCGCGGT	0.473													A	140782949	G	A	140782949	3	1	223	1	0	0	0	0	1	0	0	0	11561	1059	37	1	432	1	PCDHGA9	5	140782949	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	15	140782949	40132311	24	114222			1	54		2	2	16	G		3.343319e-05
C6orf127	340204	broad.mit.edu	37	chr6	35754860	35754860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgcgagtcgcactgcgCggagaaggggtccgagggca	17	10	0	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr6:35754860C>T	uc003old.3	+	2	242	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	hypothetical protein LOC340204 precursor	62					digestion|lipid catabolic process	extracellular region	enzyme activator activity			skin(1)	1						TCGCACTGCGCGGAGAAGGGG	0.662													T	35754860	C	T	35754860	3	4	223	1	0	0	0	0	1	0	0	0	2327	768	27	1	191	1	C6orf127	6	35754860	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		35754860	135360207	25	114223											
PTPRK	5796	broad.mit.edu	37	chr6	128643430	128643430	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccagggtcgtgatcTgaagagtccactatcatata	8	9	3	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr6:128643430T>G	uc003qbk.2	-	3	616	c.249A>C	c.(247-249)TCA>TCC	p.S83S	PTPRK_uc003qbj.2_Silent_p.S83S|PTPRK_uc010kfc.2_Silent_p.S83S|PTPRK_uc011ebu.1_Silent_p.S83S|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Silent_p.S83S|PTPRK_uc003qbm.3_Silent_p.S12S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	83	Extracellular (Potential).|MAM.				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGTCGTGATCTGAAGAGTCCA	0.358													G	128643430	T	G	128643430	2	3	223	1	0	0	0	0	0	0	0	1	12805	1567	55	5		5	PTPRK	6	128643430	Silent	SNP	T	TCGA-D7-8576-01A-11D-2340-08	92888570	128643430	42471637	26	114224											
SDK1	221935	broad.mit.edu	37	chr7	4188947	4188947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcagaagtgaccgcaCgcagcctccggctccagtgg	13	16	0	2	rs146602325		TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr7:4188947C>T	uc003smx.2	+	30	4616	c.4477C>T	c.(4477-4479)CGC>TGC	p.R1493C	SDK1_uc010kso.2_Missense_Mutation_p.R769C|SDK1_uc003smy.2_Translation_Start_Site	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1493	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		AGTGACCGCACGCAGCCTCCG	0.677													T	4188947	C	T	4188947	3	4	223	1	0	0	0	0	1	0	0	0	13968	536	19	1	4595	1	SDK1	7	4188947	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		4188947	154949716	27	114225											
AHR	196	broad.mit.edu	37	chr7	17379566	17379566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttatttcctgtaatcagcCtgtattaccacaacattcca	3	12	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr7:17379566C>T	uc011jxz.1	+	10	2730	c.2117C>T	c.(2116-2118)CCT>CTT	p.P706L	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	706					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			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TGTAATCAGCCTGTATTACCA	0.398													T	17379566	C	T	17379566	3	4	223	1	0	0	0	0	1	0	0	0	416	681	24	4	2155	4	AHR	7	17379566	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	13190619	17379566	141759097	28	114226											
HDAC9	9734	broad.mit.edu	37	chr7	18705931	18705931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggcgatgcaggaagaCagagcgccctctagtggcaa	14	11	1	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr7:18705931C>T	uc003suh.2	+	11	1595	c.1554C>T	c.(1552-1554)GAC>GAT	p.D518D	HDAC9_uc003sue.2_Silent_p.D518D|HDAC9_uc011jyd.1_Silent_p.D518D|HDAC9_uc003sui.2_Silent_p.D521D|HDAC9_uc003suj.2_Silent_p.D477D|HDAC9_uc011jya.1_Silent_p.D515D|HDAC9_uc003sua.1_Silent_p.D496D|HDAC9_uc011jyb.1_Silent_p.D474D|HDAC9_uc003sud.1_Silent_p.D518D|HDAC9_uc011jyc.1_Silent_p.D477D|HDAC9_uc003suf.1_Silent_p.D549D|HDAC9_uc010kud.1_Silent_p.D521D|HDAC9_uc011jye.1_Silent_p.D490D|HDAC9_uc011jyf.1_Silent_p.D441D|HDAC9_uc010kue.1_Intron	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	518					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|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			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCAGGAAGACAGAGCGCCCT	0.542											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	18705931	C	T	18705931	2	4	223	1	0	0	0	0	0	0	0	1	7014	477	17	4		4	HDAC9	7	18705931	Silent	SNP	C	TCGA-D7-8576-01A-11D-2340-08	1326365	18705931	140432732	29	114227											
WRN	7486	broad.mit.edu	37	chr8	30977918	30977918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtcacgtcctctgggctCctgcagacattaacttaaat	7	12	2	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr8:30977918C>T	uc003xio.3	+	21	3396	c.2608C>T	c.(2608-2610)CCT>TCT	p.P870S	WRN_uc010lvk.2_Missense_Mutation_p.P337S	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	870	Helicase C-terminal.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CCTCTGGGCTCCTGCAGACAT	0.373			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				T	30977918	C	T	30977918	3	4	223	1	0	0	0	0	1	0	0	0	17399	855	30	4	2686	4	WRN	8	30977918	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		30977918	115386104	30	114228											
FUT10	84750	broad.mit.edu	37	chr8	33230241	33230241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctcaaaggtggagtccGgagtggtgagaaagcaaaca	15	6	1	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr8:33230241G>A	uc003xje.2	-	5	1650	c.1294C>T	c.(1294-1296)CGG>TGG	p.R432W	FUT10_uc003xjc.2_Missense_Mutation_p.R439W|FUT10_uc003xjd.2_Missense_Mutation_p.R404W|FUT10_uc011lbi.1_Missense_Mutation_p.R482W	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	432	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GGTGGAGTCCGGAGTGGTGAG	0.507													A	33230241	G	A	33230241	3	1	223	1	0	0	0	0	1	0	0	0	6102	1115	39	1	149	1	FUT10	8	33230241	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	2252323	33230241	113133781	31	114229											
CHRNA6	8973	broad.mit.edu	37	chr8	42611731	42611732	+	Frame_Shift_Del	DEL	CT	CT	-													catcaatgatttcccattcaCtgttttcccaaaaatcattc							TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr8:42611730_42611731ACT>A	uc003xpj.3	-	4	967_968	c.611_612AGT>T	c.(610-612)agtfs	p.S204fs	CHRNA6_uc011lcw.2_Frame_Shift_Del_p.S189fs	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	204						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)			TTTCCCATTCACTGTTTTCCCA	0.342													-	42611732	CT	-	42611731	7	5	223	1	0	1	0	1	0	0	0	0	3387	565	20	0	881	0	CHRNA6	8	42611731	Frame_Shift_Del	DEL	CT	TCGA-D7-8576-01A-11D-2340-08	9381490	42611731	103752291	32	114230											
DEPDC6	64798	broad.mit.edu	37	chr8	120942125	120942125	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agaaaggatgacggcaccttCccattggataatgaagtgaa	11	7	0	4			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr8:120942125C>G	uc003yow.3	+	3	559	c.372C>G	c.(370-372)TTC>TTG	p.F124L	DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	124					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGGCACCTTCCCATTGGATA	0.408													G	120942125	C	G	120942125	3	3	223	1	0	0	0	0	1	0	0	0	4443	854	30	5	382	5	DEPDC6	8	120942125	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	78330394	120942125	25421897	33	114231											
ANK3	288	broad.mit.edu	37	chr10	61847969	61847969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgcttgaacaaggggcActgtggtgctgctcagaatt	13	7	1	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr10:61847969A>G	uc001jky.2	-	29	3668	c.3476T>C	c.(3475-3477)GTG>GCG	p.V1159A	ANK3_uc001jkw.2_Missense_Mutation_p.V293A|ANK3_uc009xpa.2_Missense_Mutation_p.V293A|ANK3_uc001jkx.2_Missense_Mutation_p.V337A|ANK3_uc010qih.1_Missense_Mutation_p.V1160A|ANK3_uc001jkz.3_Missense_Mutation_p.V1153A|ANK3_uc001jla.1_Missense_Mutation_p.V225A|ANK3_uc001jlb.1_Missense_Mutation_p.V677A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1159					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AACAAGGGGCACTGTGGTGCT	0.478													G	61847969	A	G	61847969	3	3	223	1	0	0	0	0	1	0	0	0	622	159	6	3	10030	3	ANK3	10	61847969	Missense_Mutation	SNP	A	TCGA-D7-8576-01A-11D-2340-08		61847969	73686778	34	114232											
TSPAN32	10077	broad.mit.edu	37	chr11	2334953	2334953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaggtacgtcccacgtcCggcggcaggagctggcggcc	16	13	0	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr11:2334953C>T	uc001lvy.1	+	5	561	c.424C>T	c.(424-426)CGG>TGG	p.R142W	TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152W|TSPAN32_uc010qxk.1_Missense_Mutation_p.R177W|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112W|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112W|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87W|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	tumor-suppressing subtransferable candidate 6	142					cell-cell signaling	integral to membrane				central_nervous_system(1)	1		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)		GTCCCACGTCCGGCGGCAGGA	0.647													T	2334953	C	T	2334953	3	4	223	1	0	0	0	0	1	0	0	0	16644	643	23	1	442	1	TSPAN32	11	2334953	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		2334953	132671563	35	114233											
DLG2	1740	broad.mit.edu	37	chr11	83252774	83252774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgtctccctccagcaTgactctcctggcttgccacc	6	19	3	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr11:83252774T>C	uc001paj.2	-	15	2056	c.1753A>G	c.(1753-1755)ATG>GTG	p.M585V	DLG2_uc001pai.2_Missense_Mutation_p.M482V|DLG2_uc010rsy.1_Missense_Mutation_p.M552V|DLG2_uc010rsz.1_Missense_Mutation_p.M585V|DLG2_uc010rta.1_Missense_Mutation_p.M585V|DLG2_uc001pak.2_Missense_Mutation_p.M690V|DLG2_uc010rtb.1_Missense_Mutation_p.M552V|DLG2_uc010rsw.1_Missense_Mutation_p.M67V|DLG2_uc010rsx.1_Missense_Mutation_p.M66V	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	585	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCCTCCAGCATGACTCTCCTG	0.478													C	83252774	T	C	83252774	3	2	223	1	0	0	0	0	1	0	0	0	4555	1464	51	3	945	3	DLG2	11	83252774	Missense_Mutation	SNP	T	TCGA-D7-8576-01A-11D-2340-08	80917821	83252774	51753742	36	114234											
ABCC9	10060	broad.mit.edu	37	chr12	21958215	21958215	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaagactaaaacaaGgcctgcatccataatagaag	7	9	1	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr12:21958215G>C	uc001rfi.1	-	38	4563	c.4543C>G	c.(4543-4545)CTT>GTT	p.L1515V	ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.L1479V|ABCC9_uc001rfg.2_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1515	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTAAAACAAGGCCTGCATCC	0.403													C	21958215	G	C	21958215	3	2	223	1	0	0	0	0	1	0	0	0	59	1000	35	5	252	5	ABCC9	12	21958215	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08		21958215	111893680	37	114235											
LRRK2	120892	broad.mit.edu	37	chr12	40618972	40618972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggtgcgaagaggacgaGgaaactctgaagaagttgat	16	5	1	4			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr12:40618972G>A	uc001rmg.3	+	1	160	c.39G>A	c.(37-39)GAG>GAA	p.E13E		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	13					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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGAGGACGAGGAAACTCTGA	0.562													A	40618972	G	A	40618972	2	1	223	1	0	0	0	0	0	0	0	1	9033	991	35	4		4	LRRK2	12	40618972	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	18660757	40618972	93232923	38	114236											
ITGB7	3695	broad.mit.edu	37	chr12	53585371	53585371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgtctgcctcttgaaagCgaggattgatggtggtcgtg	15	7	2	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr12:53585371C>T	uc009zmv.2	-	15	2437	c.2366G>A	c.(2365-2367)CGC>CAC	p.R789H	ITGB7_uc001scc.2_Missense_Mutation_p.R789H|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	789	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						CTCTTGAAAGCGAGGATTGAT	0.507													T	53585371	C	T	53585371	3	4	223	1	0	0	0	0	1	0	0	0	7900	768	27	1	34	1	ITGB7	12	53585371	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	12966399	53585371	80266524	39	114237											
NOS1	4842	broad.mit.edu	37	chr12	117768839	117768839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaacagaaatgacattgggCtggatttgctgaacaccgaa	11	8	0	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr12:117768839C>A	uc001twm.1	-	2	722	c.36G>T	c.(34-36)CAG>CAT	p.Q12H		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	12	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			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGACATTGGGCTGGATTTGCT	0.517													A	117768839	C	A	117768839	3	1	223	1	0	0	0	0	1	0	0	0	10541	796	28	5	4380	5	NOS1	12	117768839	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	64183468	117768839	16083056	40	114238											
SFRS8	6433	broad.mit.edu	37	chr12	132195869	132195869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccggcggtgggggcagccGagtggagctcttggttttcg	19	9	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr12:132195869G>A	uc001uja.1	+	1	235	c.95G>A	c.(94-96)CGA>CAA	p.R32Q	SFRS8_uc010tbn.1_Missense_Mutation_p.R32Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_5'UTR	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	32					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		GGGGGCAGCCGAGTGGAGCTC	0.697													A	132195869	G	A	132195869	3	1	223	1	0	0	0	0	1	0	0	0	14183	1058	37	1	97	1	SFRS8	12	132195869	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	14427030	132195869	1656026	41	114239											
PABPC3	5042	broad.mit.edu	37	chr13	25670907	25670907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctagggcaaaagagttcCccaatgtttacatcaagaat	9	8	1	2	rs76264750	byFrequency	TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr13:25670907C>T	uc001upy.2	+	1	632	c.571C>T	c.(571-573)CCC>TCC	p.P191S		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	191	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		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)		AAAAGAGTTCCCCAATGTTTA	0.428													T	25670907	C	T	25670907	3	4	223	1	0	0	0	0	1	0	0	0	11365	623	22	4	573	4	PABPC3	13	25670907	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		25670907	89498971	42	114240											
MTUS2	23281	broad.mit.edu	37	chr13	30077317	30077317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggggccctcctctccgGccagagtcagcacaacaccc	9	20	2	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr13:30077317G>A	uc001usl.3	+	14	4172	c.4114G>A	c.(4114-4116)GCC>ACC	p.A1372T	MTUS2_uc001usm.3_Missense_Mutation_p.A341T|MTUS2_uc010aau.2_Missense_Mutation_p.A251T|MTUS2_uc010tdq.1_Missense_Mutation_p.A124T	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1362						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CTCCTCTCCGGCCAGAGTCAG	0.652													A	30077317	G	A	30077317	3	1	223	1	0	0	0	0	1	0	0	0	9966	1203	42	2	4226	2	MTUS2	13	30077317	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	4406410	30077317	85092561	43	114241											
CBLN3	643866	broad.mit.edu	37	chr14	24897156	24897156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggatcattggcaaaggCtgagatgacaggccacgtgt	14	8	2	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr14:24897156C>G	uc001wpg.3	-	3	928	c.457G>C	c.(457-459)GCC>CCC	p.A153P	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	153	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		TTGGCAAAGGCTGAGATGACA	0.647													G	24897156	C	G	24897156	3	3	223	1	0	0	0	0	1	0	0	0	2706	797	28	5	164	5	CBLN3	14	24897156	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		24897156	82452384	44	114242											
SIVA1	10572	broad.mit.edu	37	chr14	105223032	105223032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgagcgagccctgtgCgggcagtgtgtgcgcacctg	17	11	0	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr14:105223032C>T	uc001yph.2	+	3	474	c.405C>T	c.(403-405)TGC>TGT	p.C135C	INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Silent_p.C135C|SIVA1_uc001ypg.1_3'UTR|SIVA1_uc001ypi.2_Silent_p.C70C	NM_006427	NP_006418	O15304	SIVA_HUMAN	CD27-binding (Siva) protein isoform 1	135					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				0		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)		GAGCCCTGTGCGGGCAGTGTG	0.642													T	105223032	C	T	105223032	2	4	223	1	0	0	0	0	0	0	0	1	14345	776	27	1		1	SIVA1	14	105223032	Silent	SNP	C	TCGA-D7-8576-01A-11D-2340-08	80325876	105223032	2126508	45	114243											
ZSCAN29	146050	broad.mit.edu	37	chr15	43661186	43661186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggtcccaggtctgggCttcttgccctctctttcttg	10	14	4	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr15:43661186C>A	uc001zrk.1	-	2	605	c.458G>T	c.(457-459)AGC>ATC	p.S153I	ZSCAN29_uc001zrj.1_Missense_Mutation_p.S33I|ZSCAN29_uc010bdf.1_Missense_Mutation_p.S152I|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.S152I|ZSCAN29_uc001zrm.2_Missense_Mutation_p.S152I|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	153					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		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)		CAGGTCTGGGCTTCTTGCCCT	0.512													A	43661186	C	A	43661186	3	1	223	1	0	0	0	0	1	0	0	0	18233	797	28	5	2116	5	ZSCAN29	15	43661186	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		43661186	58870206	46	114244											
FBN1	2200	broad.mit.edu	37	chr15	48741086	48741086	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatttcttgacattcattAcgatctgtaaataagaagca	8	6	3	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr15:48741086A>G	uc001zwx.1	-	46	5878	c.5550T>C	c.(5548-5550)CGT>CGC	p.R1850R	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1850	EGF-like 31; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACATTCATTACGATCTGTAA	0.353													G	48741086	A	G	48741086	2	3	223	1	0	0	0	0	0	0	0	1	5702	378	14	3		3	FBN1	15	48741086	Silent	SNP	A	TCGA-D7-8576-01A-11D-2340-08	5079900	48741086	53790306	47	114245											
OTOA	146183	broad.mit.edu	37	chr16	21698948	21698948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctccctcgggacctgcGcgaggatgcctttaagaacc	13	14	0	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr16:21698948G>A	uc002djh.2	+	7	615	c.614G>A	c.(613-615)CGC>CAC	p.R205H	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R126H	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	205					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CGGGACCTGCGCGAGGATGCC	0.423													A	21698948	G	A	21698948	3	1	223	1	0	0	0	0	1	0	0	0	11302	1087	38	1	674	1	OTOA	16	21698948	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08		21698948	68655805	48	114246											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577121	G	A	7577121	3	1	223	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08		7577121	73618089	49	114247											
MYH4	4622	broad.mit.edu	37	chr17	10368834	10368834	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggcgctttttgcctcGgtaggctgtcaccacctcag	10	15	2	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr17:10368834G>A	uc002gmn.2	-	5	541	c.430C>T	c.(430-432)CGA>TGA	p.R144*	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	144	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			ovary(10)|skin(2)|central_nervous_system(1)	13						TTTTTGCCTCGGTAGGCTGTC	0.537													A	10368834	G	A	10368834	4	1	223	1	0	0	0	0	0	1	0	0	10037	1124	39	1	5533	1	MYH4	17	10368834	Nonsense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	2791713	10368834	70826376	50	114248											
WNK4	65266	broad.mit.edu	37	chr17	40936102	40936102	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctttatcacgggaccTactggctctgtcaaaatcgg	9	10	4	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr17:40936102T>C	uc002ibj.2	+	3	960	c.939T>C	c.(937-939)CCT>CCC	p.P313P	WNK4_uc010wgx.1_Missense_Mutation_p.L7P|WNK4_uc002ibk.1_Silent_p.P85P|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	313	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCACGGGACCTACTGGCTCTG	0.602													C	40936102	T	C	40936102	2	2	223	1	0	0	0	0	0	0	0	1	17377	1509	53	3		3	WNK4	17	40936102	Silent	SNP	T	TCGA-D7-8576-01A-11D-2340-08	30567268	40936102	40259108	51	114249											
KIF2B	84643	broad.mit.edu	37	chr17	51901905	51901905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactcacactggtgctccGggactcctttataggccaga	9	13	1	1	rs143245314	byFrequency	TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr17:51901905G>A	uc002iua.2	+	1	1667	c.1511G>A	c.(1510-1512)CGG>CAG	p.R504Q	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	504					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			ovary(5)|skin(3)	8						CTGGTGCTCCGGGACTCCTTT	0.473													A	51901905	G	A	51901905	3	1	223	1	0	0	0	0	1	0	0	0	8298	1116	39	1	1513	1	KIF2B	17	51901905	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	10965803	51901905	29293305	52	114250											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	223	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-D7-8576-01A-11D-2340-08	4484479	56386384	24808826	53	114251											
LAMA3	3909	broad.mit.edu	37	chr18	21399825	21399825	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaaaacaactactattTcccagatttgcatcatatga	5	10	1	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr18:21399825T>A	uc002kuq.2	+	19	2254	c.2168T>A	c.(2167-2169)TTC>TAC	p.F723Y	LAMA3_uc002kur.2_Missense_Mutation_p.F723Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	723	Domain V.|Laminin EGF-like 8.				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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	AACTACTATTTCCCAGATTTG	0.378													A	21399825	T	A	21399825	3	1	223	1	0	0	0	0	1	0	0	0	8607	1783	62	5	2242	5	LAMA3	18	21399825	Missense_Mutation	SNP	T	TCGA-D7-8576-01A-11D-2340-08		21399825	56677423	54	114252											
KIAA1632	57724	broad.mit.edu	37	chr18	43490580	43490580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccctctgctggaacacGgagggccttgcttgcagcat	12	13	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr18:43490580G>A	uc002lbm.2	-	23	4211	c.4111C>T	c.(4111-4113)CGT>TGT	p.R1371C	KIAA1632_uc002lbo.1_Missense_Mutation_p.R1371C|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R246C	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1371					autophagy						0						GCTGGAACACGGAGGGCCTTG	0.522											OREG0024952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43490580	G	A	43490580	3	1	223	1	0	0	0	0	1	0	0	0	8249	1116	39	1	3716	1	KIAA1632	18	43490580	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	22090755	43490580	34586668	55	114253											
ZNF556	80032	broad.mit.edu	37	chr19	2877321	2877321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcagtaaaggtaataaacGtggaagaaccttcagaaaga	10	5	1	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr19:2877321G>T	uc002lwp.1	+	4	452	c.365G>T	c.(364-366)CGT>CTT	p.R122L	ZNF556_uc002lwq.2_Missense_Mutation_p.R121L	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		GGTAATAAACGTGGAAGAACC	0.373													T	2877321	G	T	2877321	3	4	223	1	0	0	0	0	1	0	0	0	17984	1145	40	5	379	5	ZNF556	19	2877321	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08		2877321	56251662	56	114254											
KDM4B	23030	broad.mit.edu	37	chr19	5033012	5033012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtggcctacatagagtcGcagggagcccaccgggcggg	16	12	0	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr19:5033012G>A	uc002mbq.3	+	3	337	c.111G>A	c.(109-111)TCG>TCA	p.S37S	KDM4B_uc010xil.1_Silent_p.S37S|KDM4B_uc010xim.1_Silent_p.S37S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	37	JmjN.				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			lung(1)	1						ACATAGAGTCGCAGGGAGCCC	0.622													A	5033012	G	A	5033012	2	1	223	1	0	0	0	0	0	0	0	1	8129	1074	38	1		1	KDM4B	19	5033012	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	2155691	5033012	54095971	57	114255											
UNC13A	23025	broad.mit.edu	37	chr19	17756598	17756598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgcgggatttgatgtcGtcatcctcgtcccagacgcg	11	13	2	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr19:17756598G>A	uc002nhd.2	-	19	2505	c.2505C>T	c.(2503-2505)GAC>GAT	p.D835D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	747	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ATTTGATGTCGTCATCCTCGT	0.592													A	17756598	G	A	17756598	2	1	223	1	0	0	0	0	0	0	0	1	16981	1136	40	1		1	UNC13A	19	17756598	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08	12723586	17756598	41372385	58	114256											
TSHZ3	57616	broad.mit.edu	37	chr19	31767753	31767753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagtcctgatttgggaCgcacaatcgttacaaaagaa	11	7	0	2			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr19:31767753C>T	uc002nsy.3	-	2	3011	c.2946G>A	c.(2944-2946)GCG>GCA	p.A982A		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	982	C2H2-type 4.				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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TGATTTGGGACGCACAATCGT	0.498													T	31767753	C	T	31767753	2	4	223	1	0	0	0	0	0	0	0	1	16622	523	19	1		1	TSHZ3	19	31767753	Silent	SNP	C	TCGA-D7-8576-01A-11D-2340-08	14011155	31767753	27361230	59	114257											
LILRA2	11027	broad.mit.edu	37	chr19	55086958	55086958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtacagatgctacagTgcacacaacctctcctccga	8	15	1	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr19:55086958T>C	uc002qgg.3	+	5	980	c.891T>C	c.(889-891)AGT>AGC	p.S297S	LILRA2_uc010ern.2_Silent_p.S297S|LILRA2_uc002qgf.2_Silent_p.S297S|LILRA2_uc010yfe.1_Silent_p.S297S|LILRA2_uc010yff.1_Silent_p.S285S|LILRA2_uc010ero.2_Silent_p.S285S|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	297	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GATGCTACAGTGCACACAACC	0.667													C	55086958	T	C	55086958	2	2	223	1	0	0	0	0	0	0	0	1	8785	1693	59	3		3	LILRA2	19	55086958	Silent	SNP	T	TCGA-D7-8576-01A-11D-2340-08	23319205	55086958	4042025	60	114258											
APP	351	broad.mit.edu	37	chr21	27425588	27425588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtgaagatgagtttcGcaaacatccatcctctcctg	8	12	1	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr21:27425588G>A	uc002ylz.2	-	4	632	c.432C>T	c.(430-432)TGC>TGT	p.C144C	APP_uc010glk.2_Silent_p.C139C|APP_uc002yma.2_Silent_p.C144C|APP_uc011ach.1_Silent_p.C88C|APP_uc002ymb.2_Silent_p.C144C|APP_uc010glj.2_Silent_p.C88C|APP_uc011aci.1_Silent_p.C109C|APP_uc011acj.1_Silent_p.C144C	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	144	Extracellular (Potential).	Required for Cu(2+) reduction.		C->S: Binds copper. No dimer formation. No copper reducing activity.	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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				GATGAGTTTCGCAAACATCCA	0.453													A	27425588	G	A	27425588	2	1	223	1	0	0	0	0	0	0	0	1	815	1079	38	1		1	APP	21	27425588	Silent	SNP	G	TCGA-D7-8576-01A-11D-2340-08		27425588	20704307	61	114259											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31691973	31691973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtaactattgagcagCggcctcagtggacgacagcc	14	11	1	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr21:31691973C>T	uc002ynw.2	-	1	635	c.381G>A	c.(379-381)CCG>CCA	p.P127P		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	127						intermediate filament				ovary(1)	1						TATTGAGCAGCGGCCTCAGTG	0.532													T	31691973	C	T	31691973	2	4	223	1	0	0	0	0	0	0	0	1	8543	755	27	1		1	KRTAP26-1	21	31691973	Silent	SNP	C	TCGA-D7-8576-01A-11D-2340-08	4266385	31691973	16437922	62	114260											
MICAL3	57553	broad.mit.edu	37	chr22	18347703	18347703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggccacggcgttggccCgtccgtttgcatctgtggtg	15	12	1	0			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr22:18347703C>T	uc002zng.3	-	19	2920	c.2567G>A	c.(2566-2568)CGG>CAG	p.R856Q	MICAL3_uc011agl.1_Missense_Mutation_p.R856Q|MICAL3_uc002znh.2_Missense_Mutation_p.R856Q|MICAL3_uc002znj.1_Missense_Mutation_p.R584Q|MICAL3_uc002znk.1_Missense_Mutation_p.R856Q|MICAL3_uc002znl.1_Missense_Mutation_p.R489Q|MICAL3_uc002znm.2_Missense_Mutation_p.R357Q|MICAL3_uc010grf.2_Missense_Mutation_p.R980Q	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	856						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCGTTGGCCCGTCCGTTTGC	0.582													T	18347703	C	T	18347703	3	4	223	1	0	0	0	0	1	0	0	0	9571	652	23	1	3846	1	MICAL3	22	18347703	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		18347703	32956863	63	114261											
HIRA	7290	broad.mit.edu	37	chr22	19341023	19341023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgaggcacggagaagagccGggcagcctgccttcccgagc	15	13	0	3			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chr22:19341023G>C	uc002zpf.1	-	23	2924	c.2704C>G	c.(2704-2706)CGG>GGG	p.R902G	HIRA_uc011agx.1_Missense_Mutation_p.R768G|HIRA_uc010grn.1_Missense_Mutation_p.R695G|HIRA_uc010gro.1_Missense_Mutation_p.R858G|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	902	Interaction with histone H4.				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			ovary(1)	1	Colorectal(54;0.0993)					GAGAAGAGCCGGGCAGCCTGC	0.612													C	19341023	G	C	19341023	3	2	223	1	0	0	0	0	1	0	0	0	7120	1115	39	5	361	5	HIRA	22	19341023	Missense_Mutation	SNP	G	TCGA-D7-8576-01A-11D-2340-08	993320	19341023	31963543	64	114262											
FAM47B	170062	broad.mit.edu	37	chrX	34962140	34962140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcggatgccccatctcCgcctggtgcttcccataact	9	15	1	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chrX:34962140C>T	uc004ddi.1	+	1	1210	c.1192C>T	c.(1192-1194)CGC>TGC	p.R398C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	398										ovary(3)|breast(1)	4						GCCCCATCTCCGCCTGGTGCT	0.582													T	34962140	C	T	34962140	3	4	223	1	0	0	0	0	1	0	0	0	5570	652	23	1	1194	1	FAM47B	23	34962140	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08		34962140	120308420	65	114263											
SHROOM4	57477	broad.mit.edu	37	chrX	50376816	50376816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagtagaagccttcaattCcttgttgtcacctgggttgg	11	9	2	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chrX:50376816C>T	uc004dpe.2	-	4	2283	c.2257G>A	c.(2257-2259)GAA>AAA	p.E753K	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.E637K	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	753					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GCCTTCAATTCCTTGTTGTCA	0.498													T	50376816	C	T	50376816	3	4	223	1	0	0	0	0	1	0	0	0	14296	864	30	4	2248	4	SHROOM4	23	50376816	Missense_Mutation	SNP	C	TCGA-D7-8576-01A-11D-2340-08	15414676	50376816	104893744	66	114264											
TRMT2B	79979	broad.mit.edu	37	chrX	100274308	100274308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttcaccacagcaacaAttgactgtccatcttccttt	6	13	2	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chrX:100274308A>G	uc004egq.2	-	11	1552	c.1253T>C	c.(1252-1254)ATT>ACT	p.I418T	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.I418T|TRMT2B_uc004egs.2_Missense_Mutation_p.I418T|TRMT2B_uc004egt.2_Missense_Mutation_p.I418T|TRMT2B_uc004egu.2_Missense_Mutation_p.I299T|TRMT2B_uc004egv.2_Missense_Mutation_p.I373T	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	418							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						CACAGCAACAATTGACTGTCC	0.468													G	100274308	A	G	100274308	3	3	223	1	0	0	0	0	1	0	0	0	16563	101	4	3	273	3	TRMT2B	23	100274308	Missense_Mutation	SNP	A	TCGA-D7-8576-01A-11D-2340-08	49897492	100274308	54996252	67	114265											
F9	2158	broad.mit.edu	37	chrX	138633424	138633424	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcaattcccttggcagGtactttatactgatggtgtg	11	8	1	1			TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chrX:138633424G>A	uc004fas.1	+	6	752	c.723_splice	c.e6+1	p.Q241_splice	F9_uc004fat.1_Splice_Site_p.Q203_splice	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein						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			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CCCTTGGCAGGTACTTTATAC	0.458													A	138633424	G	A	138633424	5	1	223	1	0	0	0	0	0	0	1	0	5351	1275	44	4	746	4	F9	23	138633424	Splice_Site	SNP	G	TCGA-D7-8576-01A-11D-2340-08	38359116	138633424	16637136	68	114266											
F8	2157	broad.mit.edu	37	chrX	154157240	154157241	+	Frame_Shift_Ins	INS	-	-	T													tcctttttcttaaaagctgtINStttttctggtgacttctctt							TCGA-D7-8576-01A-11D-2340-08	TCGA-D7-8576-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55fb5533-c4fb-4868-8763-265bb849e87e	d42e8bcc-afc8-4482-aae0-94de92c6d54d	g.chrX:154157239_154157240G>GT	uc004fmt.3	-	13	4996_4997	c.4825_4826C>AC	c.(4825-4827)acafs	p.T1609fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1609	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)	CTTAAAAGCTGTTTTTTCTGGT	0.406													T	154157241	-	T	154157240	7	5	223	1	0	1	1	0	0	0	0	0	5350	1725	60	0	2310	0	F8	23	154157240	Frame_Shift_Ins	INS	-	TCGA-D7-8576-01A-11D-2340-08	15523816	154157240	1113320	69	114267											
IFI44L	10964	broad.mit.edu	37	chr1	79102793	79102793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaggacaggattcactGtgtggcttatgtcttagaca	11	7	3	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:79102793G>A	uc010oro.1	+	6	1132	c.953G>A	c.(952-954)TGT>TAT	p.C318Y	IFI44L_uc010orp.1_Missense_Mutation_p.C55Y|IFI44L_uc010orq.1_Missense_Mutation_p.C55Y	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	318						cytoplasm					0						AGGATTCACTGTGTGGCTTAT	0.363													A	79102793	G	A	79102793	3	1	224	1	0	0	0	0	1	0	0	0	7518	1377	48	4	971	4	IFI44L	1	79102793	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08		79102793	170147828	1	114268											
BCL10	8915	broad.mit.edu	37	chr1	85736384	85736384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagttctgtgttttttctCgccgaatagattcaacaagg	10	7	3	1	rs147850504		TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:85736384C>T	uc001dkz.2	-	3	968	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_003921	NP_003912	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	88	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			lung(2)	2				all cancers(265;0.0114)|Epithelial(280;0.0311)		TGTTTTTTCTCGCCGAATAGA	0.348			T	IGH@	MALT 								T	85736384	C	T	85736384	3	4	224	1	0	0	0	0	1	0	0	0	1362	884	31	1	446	1	BCL10	1	85736384	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08	6633591	85736384	163514237	2	114269											
CELSR2	1952	broad.mit.edu	37	chr1	109794776	109794776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgcctccgatggcactcGgcaggacacggcacagattg	12	14	0	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:109794776G>A	uc001dxa.3	+	1	2136	c.2075G>A	c.(2074-2076)CGG>CAG	p.R692Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	692	Cadherin 5.|Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		GATGGCACTCGGCAGGACACG	0.557													A	109794776	G	A	109794776	3	1	224	1	0	0	0	0	1	0	0	0	3222	1116	39	1	2077	1	CELSR2	1	109794776	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	24058392	109794776	139455845	3	114270											
HIPK1	204851	broad.mit.edu	37	chr1	114483281	114483281	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaacagccgctgatagctcGggcagtgctgctacatcaac	11	12	1	1	rs145171448	byFrequency	TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:114483281G>T	uc001eem.2	+	2	437	c.276G>T	c.(274-276)TCG>TCT	p.S92S	HIPK1_uc001eel.2_Silent_p.S92S|HIPK1_uc001een.2_Silent_p.S92S	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	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)		CTGATAGCTCGGGCAGTGCTG	0.502													T	114483281	G	T	114483281	2	4	224	1	0	0	0	0	0	0	0	1	7116	1103	39	5		5	HIPK1	1	114483281	Silent	SNP	G	TCGA-D7-8578-01A-21D-2340-08	4688505	114483281	134767340	4	114271											
HMCN1	83872	broad.mit.edu	37	chr1	185988786	185988786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccttccattacatggttaAaagatgaccagcctgtgaac	7	10	0	3	rs147131235		TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:185988786A>C	uc001grq.1	+	35	5813	c.5584A>C	c.(5584-5586)AAA>CAA	p.K1862Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1862	Ig-like C2-type 16.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACATGGTTAAAAGATGACCA	0.423													C	185988786	A	C	185988786	3	2	224	1	0	0	0	0	1	0	0	0	7220	15	1	5	5722	5	HMCN1	1	185988786	Missense_Mutation	SNP	A	TCGA-D7-8578-01A-21D-2340-08	71505505	185988786	63261835	5	114272											
KCNT2	343450	broad.mit.edu	37	chr1	196398803	196398803	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatccccgaagcccacagtAgaaaacgtcacaatgcagaa	7	13	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:196398803A>T	uc001gtd.1	-	9	783	c.723T>A	c.(721-723)TCT>TCA	p.S241S	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.S241S|KCNT2_uc001gtf.1_Silent_p.S241S|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Silent_p.S241S|KCNT2_uc009wyv.1_Silent_p.S216S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	241						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AGCCCACAGTAGAAAACGTCA	0.413													T	196398803	A	T	196398803	2	4	224	1	0	0	0	0	0	0	0	1	8092	407	15	5		5	KCNT2	1	196398803	Silent	SNP	A	TCGA-D7-8578-01A-21D-2340-08	10410017	196398803	52851818	6	114273											
IGFN1	91156	broad.mit.edu	37	chr1	201195249	201195249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcatcccccggcagcGcggtaagcagcccctgagag	14	15	0	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:201195249G>A	uc001gwc.2	+	11	3036	c.2264G>A	c.(2263-2265)CGC>CAC	p.R755H	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CCCCGGCAGCGCGGTAAGCAG	0.662													A	201195249	G	A	201195249	3	1	224	1	0	0	0	0	1	0	0	0	7590	1087	38	1	10866	1	IGFN1	1	201195249	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	4796446	201195249	48055372	7	114274											
C1orf58	148362	broad.mit.edu	37	chr1	222892355	222892355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaatgcagcagattcaTatttctcacttttacaaggt	7	7	2	3			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr1:222892355T>C	uc001hnq.1	+	3	585	c.190T>C	c.(190-192)TAT>CAT	p.Y64H	C1orf58_uc010put.1_Missense_Mutation_p.Y64H|C1orf58_uc010puu.1_Missense_Mutation_p.Y64H|C1orf58_uc010puv.1_Missense_Mutation_p.Y64H	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	64						membrane					0				GBM - Glioblastoma multiforme(131;0.0667)		AGCAGATTCATATTTCTCACT	0.318													C	222892355	T	C	222892355	3	2	224	1	0	0	0	0	1	0	0	0	2050	1406	49	3	196	3	C1orf58	1	222892355	Missense_Mutation	SNP	T	TCGA-D7-8578-01A-21D-2340-08	21697106	222892355	26358266	8	114275											
ADCY3	109	broad.mit.edu	37	chr2	25044392	25044392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggtgctcacctatgcGcagcatgaagttattgaagg	14	8	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr2:25044392G>A	uc002rfs.3	-	19	3320	c.3121C>T	c.(3121-3123)CGC>TGC	p.R1041C	ADCY3_uc002rfr.3_Missense_Mutation_p.R628C|ADCY3_uc010ykm.1_Missense_Mutation_p.R1042C	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1041	Cytoplasmic (Potential).				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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCACCTATGCGCAGCATGAAG	0.617													A	25044392	G	A	25044392	3	1	224	1	0	0	0	0	1	0	0	0	295	1087	38	1	325	1	ADCY3	2	25044392	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08		25044392	218154981	9	114276											
CAPN13	92291	broad.mit.edu	37	chr2	30966280	30966280	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcattttcaggaagattcGgagcaagaactccgctgatt	11	8	1	3			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr2:30966280G>A	uc002rnn.2	-	12	1590	c.1414C>T	c.(1414-1416)CGA>TGA	p.R472*	CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_Nonsense_Mutation_p.R26*	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	472					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGAAGATTCGGAGCAAGAAC	0.408													A	30966280	G	A	30966280	4	1	224	1	0	0	0	0	0	1	0	0	2626	1124	39	1	635	1	CAPN13	2	30966280	Nonsense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	5921888	30966280	212233093	10	114277											
UGGT1	56886	broad.mit.edu	37	chr2	128937376	128937376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcataatgatgctatccGtgctgaagaataccaagact	9	9	0	4			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr2:128937376G>A	uc002tps.2	+	35	4010	c.3832G>A	c.(3832-3834)GTG>ATG	p.V1278M	UGGT1_uc002tpr.2_Missense_Mutation_p.V1254M	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1278	Glucosyltransferase (By similarity).				'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			ovary(1)	1						GATGCTATCCGTGCTGAAGAA	0.373													A	128937376	G	A	128937376	3	1	224	1	0	0	0	0	1	0	0	0	16938	1145	40	1	3970	1	UGGT1	2	128937376	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	97971096	128937376	114261997	11	114278											
SCN10A	6336	broad.mit.edu	37	chr3	38739948	38739948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcggatccccttggccgctCggatcagtctgaggatgcgg	15	12	2	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr3:38739948C>T	uc003ciq.2	-	27	4763	c.4763G>A	c.(4762-4764)CGA>CAA	p.R1588Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1588	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	CTTGGCCGCTCGGATCAGTCT	0.517													T	38739948	C	T	38739948	3	4	224	1	0	0	0	0	1	0	0	0	13912	884	31	1	1111	1	SCN10A	3	38739948	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08		38739948	159282482	12	114279											
CELSR3	1951	broad.mit.edu	37	chr3	48698891	48698891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacgctccatgctctcgcGgtccagagctgccgccgtac	12	16	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr3:48698891G>A	uc003cul.2	-	1	1458	c.1177C>T	c.(1177-1179)CGC>TGC	p.R393C	CELSR3_uc003cuf.1_Missense_Mutation_p.R463C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	393	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGCTCTCGCGGTCCAGAGCT	0.672													A	48698891	G	A	48698891	3	1	224	1	0	0	0	0	1	0	0	0	3223	1116	39	1	8901	1	CELSR3	3	48698891	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	9958943	48698891	149323539	13	114280											
SLC4A4	8671	broad.mit.edu	37	chr4	72313451	72313451	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctgatgtctgatgagGtaggaaatcaggaagatgga	13	7	2	4			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr4:72313451G>T	uc003hfy.2	+	9	1170	c.1053_splice	c.e9+1	p.E351_splice	SLC4A4_uc010iic.2_Splice_Site_p.E351_splice|SLC4A4_uc010iib.2_Splice_Site_p.E351_splice|SLC4A4_uc003hfz.2_Splice_Site_p.E351_splice|SLC4A4_uc003hgc.3_Splice_Site_p.E307_splice|SLC4A4_uc010iid.2_Splice_Site|SLC4A4_uc003hga.2_Splice_Site_p.E229_splice|SLC4A4_uc003hgb.3_Splice_Site_p.E307_splice	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTCTGATGAGGTAGGAAATCA	0.418													T	72313451	G	T	72313451	5	4	224	1	0	0	0	0	0	0	1	0	14656	1275	44	5	1205	5	SLC4A4	4	72313451	Splice_Site	SNP	G	TCGA-D7-8578-01A-21D-2340-08		72313451	118840825	14	114281											
LEF1	51176	broad.mit.edu	37	chr4	109010376	109010376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggggtgagaggatggAccgcatgggatggctgcacc	20	7	0	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr4:109010376A>G	uc003hyt.1	-	4	1107	c.452T>C	c.(451-453)GTC>GCC	p.V151A	LEF1_uc011cfj.1_Missense_Mutation_p.V36A|LEF1_uc011cfk.1_Missense_Mutation_p.V83A|LEF1_uc003hyu.1_Missense_Mutation_p.V151A|LEF1_uc003hyv.1_Missense_Mutation_p.V151A|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	151	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 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			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GAGAGGATGGACCGCATGGGA	0.498													G	109010376	A	G	109010376	3	3	224	1	0	0	0	0	1	0	0	0	8714	275	10	3	863	3	LEF1	4	109010376	Missense_Mutation	SNP	A	TCGA-D7-8578-01A-21D-2340-08	36696925	109010376	82143900	15	114282											
ODZ3	55714	broad.mit.edu	37	chr4	183675916	183675916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagtggagatggctacGccaaggatgccaaactcagt	12	10	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr4:183675916G>A	uc003ivd.1	+	21	4433	c.4396G>A	c.(4396-4398)GCC>ACC	p.A1466T	ODZ3_uc003ive.1_Missense_Mutation_p.A879T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1466	Extracellular (Potential).|NHL 5.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGATGGCTACGCCAAGGATGC	0.507													A	183675916	G	A	183675916	3	1	224	1	0	0	0	0	1	0	0	0	10836	1087	38	1	4478	1	ODZ3	4	183675916	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	74665540	183675916	7478360	16	114283											
ADCY2	108	broad.mit.edu	37	chr5	7766854	7766854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactgccaacacaacaaacAcaagcttttcagcctcaaat	3	14	2	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr5:7766854A>G	uc003jdz.1	+	17	2216	c.2149A>G	c.(2149-2151)ACA>GCA	p.T717A	ADCY2_uc011cmo.1_Missense_Mutation_p.T537A	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	717					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			ovary(5)|pancreas(1)|skin(1)	7						CACAACAAACACAAGCTTTTC	0.393													G	7766854	A	G	7766854	3	3	224	1	0	0	0	0	1	0	0	0	294	159	6	3	2215	3	ADCY2	5	7766854	Missense_Mutation	SNP	A	TCGA-D7-8578-01A-21D-2340-08		7766854	173148406	17	114284											
FBXO4	26272	broad.mit.edu	37	chr5	41934278	41934278	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatacaagtgcagttAacaagatgttcagtcgacac	9	8	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr5:41934278A>C	uc003jmq.2	+	5	822	c.766A>C	c.(766-768)AAC>CAC	p.N256H	FBXO4_uc003jmp.2_Missense_Mutation_p.N256H|FBXO4_uc003jmr.2_Missense_Mutation_p.N256H	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	256					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			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AAGTGCAGTTAACAAGATGTT	0.388													C	41934278	A	C	41934278	3	2	224	1	0	0	0	0	1	0	0	0	5748	362	13	5	784	5	FBXO4	5	41934278	Missense_Mutation	SNP	A	TCGA-D7-8578-01A-21D-2340-08	34167424	41934278	138980982	18	114285											
PJA2	9867	broad.mit.edu	37	chr5	108698688	108698688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcattgtactgtaacCaaggaatttctccctcttcc	5	12	3	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr5:108698688C>A	uc003kos.3	-	6	1725	c.1505G>T	c.(1504-1506)TGG>TTG	p.W502L		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	502					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			ovary(1)|skin(1)	2		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)		GTACTGTAACCAAGGAATTTC	0.358													A	108698688	C	A	108698688	3	1	224	1	0	0	0	0	1	0	0	0	11962	595	21	5	641	5	PJA2	5	108698688	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08	66764410	108698688	72216572	19	114286											
FAT2	2196	broad.mit.edu	37	chr5	150921854	150921854	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttcttacctgtgatgTagcaggtgacctgcctgttc	12	9	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr5:150921854T>A	uc003lue.3	-	9	8847	c.8834A>T	c.(8833-8835)TAC>TTC	p.Y2945F	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2945	Extracellular (Potential).|Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGTGATGTAGCAGGTGAC	0.453													A	150921854	T	A	150921854	3	1	224	1	0	0	0	0	1	0	0	0	5690	1638	57	5	4275	5	FAT2	5	150921854	Missense_Mutation	SNP	T	TCGA-D7-8578-01A-21D-2340-08	42223166	150921854	29993406	20	114287											
EHMT2	10919	broad.mit.edu	37	chr6	31848468	31848468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctagctcctccccagtcCggatgtctcgggaactgaag	10	15	1	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr6:31848468C>T	uc003nxz.1	-	27	3444	c.3434G>A	c.(3433-3435)CGG>CAG	p.R1145Q	EHMT2_uc003nxv.1_Missense_Mutation_p.R184Q|EHMT2_uc003nxw.1_Missense_Mutation_p.R184Q|EHMT2_uc003nxx.1_Missense_Mutation_p.R343Q|EHMT2_uc003nxy.1_Missense_Mutation_p.R943Q|EHMT2_uc011don.1_Missense_Mutation_p.R1168Q|EHMT2_uc003nya.1_Missense_Mutation_p.R1111Q|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dom.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1145	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTCCCCAGTCCGGATGTCTCG	0.592													T	31848468	C	T	31848468	3	4	224	1	0	0	0	0	1	0	0	0	4984	652	23	1	206	1	EHMT2	6	31848468	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08		31848468	139266599	21	114288											
ZNF76	7629	broad.mit.edu	37	chr6	35260365	35260365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcacggtgccaggctgCgggaaacgcttcaccgagta	14	11	1	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr6:35260365C>T	uc003oki.1	+	10	1171	c.966C>T	c.(964-966)TGC>TGT	p.C322C	ZNF76_uc011dsz.1_Silent_p.C322C|ZNF76_uc003okj.1_Silent_p.C322C	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	322	C2H2-type 6.				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				0						TGCCAGGCTGCGGGAAACGCT	0.463													T	35260365	C	T	35260365	2	4	224	1	0	0	0	0	0	0	0	1	18132	776	27	1		1	ZNF76	6	35260365	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08	3411897	35260365	135854702	22	114289											
GUCA1A	2978	broad.mit.edu	37	chr6	42141400	42141400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggagctgagcagcaccGagtgccaccagtggtacaag	15	10	0	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr6:42141400G>A	uc003orx.2	+	3	694	c.49G>A	c.(49-51)GAG>AAG	p.E17K	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.E17K	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	17	EF-hand 1.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGCAGCACCGAGTGCCACCA	0.587													A	42141400	G	A	42141400	3	1	224	1	0	0	0	0	1	0	0	0	6888	1059	37	1	51	1	GUCA1A	6	42141400	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	6881035	42141400	128973667	23	114290											
CDK13	8621	broad.mit.edu	37	chr7	40134360	40134360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagtcctggcaaacagCagtgacccttccacggggcc	11	14	0	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr7:40134360C>T	uc003thh.3	+	14	4602	c.4320C>T	c.(4318-4320)AGC>AGT	p.S1440S	CDK13_uc003thi.3_Silent_p.S1380S|CDK13_uc003thj.2_Silent_p.S491S|CDK13_uc003thk.2_Silent_p.S373S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1440					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			lung(2)|skin(2)|ovary(1)	5						TGGCAAACAGCAGTGACCCTT	0.473													T	40134360	C	T	40134360	2	4	224	1	0	0	0	0	0	0	0	1	3129	709	25	2		2	CDK13	7	40134360	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08		40134360	119004303	24	114291											
ASB4	51666	broad.mit.edu	37	chr7	95157511	95157511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgctgccatccagtacGtgctgaaggtcacctccgtg	12	13	1	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr7:95157511G>A	uc011kij.1	+	3	874	c.874G>A	c.(874-876)GTG>ATG	p.V292M	ASB4_uc003unx.2_Missense_Mutation_p.V292M	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	292					intracellular signal transduction					central_nervous_system(1)	1	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)			CATCCAGTACGTGCTGAAGGT	0.587											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	95157511	G	A	95157511	3	1	224	1	0	0	0	0	1	0	0	0	1025	1145	40	1	884	1	ASB4	7	95157511	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	55023151	95157511	63981152	25	114292											
WISP1	8840	broad.mit.edu	37	chr8	134233084	134233084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgacacaggagccttcGgtgggtgtgggcccgagtgg	18	11	0	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr8:134233084G>A	uc003yub.2	+	3	686	c.610G>A	c.(610-612)GAT>AAT	p.D204N	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	204					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)|kidney(1)	2	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)			AGGAGCCTTCGGTGGGTGTGG	0.617													A	134233084	G	A	134233084	3	1	224	1	0	0	0	0	1	0	0	0	17369	1130	39	1	620	1	WISP1	8	134233084	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08		134233084	12130938	26	114293											
FAM135B	51059	broad.mit.edu	37	chr8	139323096	139323096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcacctgtctgcccagCgatggaggcactcagtctgt	11	14	4	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr8:139323096C>T	uc003yuy.2	-	3	316	c.145G>A	c.(145-147)GCT>ACT	p.A49T	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	49										ovary(7)|skin(2)	9	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)			GTCTGCCCAGCGATGGAGGCA	0.557										HNSCC(54;0.14)			T	139323096	C	T	139323096	3	4	224	1	0	0	0	0	1	0	0	0	5449	768	27	1	4147	1	FAM135B	8	139323096	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08	5090012	139323096	7040926	27	114294											
TRPM3	80036	broad.mit.edu	37	chr9	73233887	73233887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcggtgtttggcagccaCggcaagctgcaggcacgtgg	17	11	0	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr9:73233887C>T	uc004aid.2	-	16	2462	c.2218G>A	c.(2218-2220)GTG>ATG	p.V740M	TRPM3_uc004ahu.2_Missense_Mutation_p.V570M|TRPM3_uc004ahv.2_Missense_Mutation_p.V542M|TRPM3_uc004ahw.2_Missense_Mutation_p.V612M|TRPM3_uc004ahx.2_Missense_Mutation_p.V599M|TRPM3_uc004ahy.2_Missense_Mutation_p.V602M|TRPM3_uc004ahz.2_Missense_Mutation_p.V589M|TRPM3_uc004aia.2_Missense_Mutation_p.V587M|TRPM3_uc004aib.2_Missense_Mutation_p.V577M|TRPM3_uc004aic.2_Missense_Mutation_p.V740M	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	765	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TTGGCAGCCACGGCAAGCTGC	0.607													T	73233887	C	T	73233887	3	4	224	1	0	0	0	0	1	0	0	0	16584	536	19	1	2945	1	TRPM3	9	73233887	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08		73233887	67979544	28	114295											
CTNNAL1	8727	broad.mit.edu	37	chr9	111741743	111741743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaaataaagattctcccGaagagcttcaatattcatct	5	9	4	3			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr9:111741743G>A	uc004bdo.1	-	7	961	c.919C>T	c.(919-921)CGG>TGG	p.R307W	CTNNAL1_uc010mts.1_Missense_Mutation_p.R43W|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R307W|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R307W	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	307					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		AGATTCTCCCGAAGAGCTTCA	0.418													A	111741743	G	A	111741743	3	1	224	1	0	0	0	0	1	0	0	0	4015	1057	37	1	1337	1	CTNNAL1	9	111741743	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	38507856	111741743	29471688	29	114296											
PTCHD3	374308	broad.mit.edu	37	chr10	27702994	27702994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggggtgcatcctgctcCgacgccaggggtcctgaggg	18	12	0	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr10:27702994C>T	uc001itu.2	-	1	304	c.186G>A	c.(184-186)TCG>TCA	p.S62S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	62					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CATCCTGCTCCGACGCCAGGG	0.697													T	27702994	C	T	27702994	2	4	224	1	0	0	0	0	0	0	0	1	12734	639	23	1		1	PTCHD3	10	27702994	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08		27702994	107831753	30	114297											
MUC6	4588	broad.mit.edu	37	chr11	1031906	1031906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgctcccgtctgggcctCgccgcagctggacactgaag	13	14	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr11:1031906C>T	uc001lsw.2	-	3	314	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	88	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GTCTGGGCCTCGCCGCAGCTG	0.622													T	1031906	C	T	1031906	3	4	224	1	0	0	0	0	1	0	0	0	9980	884	31	1	7180	1	MUC6	11	1031906	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08		1031906	133974610	31	114298											
FCHSD2	9873	broad.mit.edu	37	chr11	72695249	72695249	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggaattacactcagatcGccgggcttttaactaaaaca	7	9	1	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr11:72695249G>T	uc009ytl.2	-	8	810	c.589C>A	c.(589-591)CGA>AGA	p.R197R	FCHSD2_uc010rrg.1_Silent_p.R37R|FCHSD2_uc001oth.3_Silent_p.R141R|FCHSD2_uc001oti.2_Silent_p.R156R	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	197							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CACTCAGATCGCCGGGCTTTT	0.378													T	72695249	G	T	72695249	2	4	224	1	0	0	0	0	0	0	0	1	5790	1095	38	5		5	FCHSD2	11	72695249	Silent	SNP	G	TCGA-D7-8578-01A-21D-2340-08	71663343	72695249	62311267	32	114299											
FAT3	120114	broad.mit.edu	37	chr11	92616530	92616530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgactgcgactccatccGgaagaatggctgggacgcgg	14	13	0	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr11:92616530G>A	uc001pdj.3	+	23	12925	c.12908G>A	c.(12907-12909)CGG>CAG	p.R4303Q	FAT3_uc001pdi.3_Missense_Mutation_p.R743Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4303	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACTCCATCCGGAAGAATGGC	0.672										TCGA Ovarian(4;0.039)			A	92616530	G	A	92616530	3	1	224	1	0	0	0	0	1	0	0	0	5691	1116	39	1	12998	1	FAT3	11	92616530	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	19921281	92616530	42389986	33	114300											
ENDOD1	23052	broad.mit.edu	37	chr11	94861549	94861549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgcagatcgatgaCcccaacagcaaccttgagga	8	12	2	3			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr11:94861549C>T	uc001pfh.2	+	2	384	c.309C>T	c.(307-309)GAC>GAT	p.D103D		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	103						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGATCGATGACCCCAACAGCA	0.507													T	94861549	C	T	94861549	2	4	224	1	0	0	0	0	0	0	0	1	5114	506	18	4		4	ENDOD1	11	94861549	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08	2245019	94861549	40144967	34	114301											
ATN1	1822	broad.mit.edu	37	chr12	7045235	7045235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaagctctggggctagtGgtgctcccccaacaaagccg	11	13	2	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr12:7045235G>A	uc001qrw.1	+	5	1042	c.805G>A	c.(805-807)GGT>AGT	p.G269S	ATN1_uc001qrx.1_Missense_Mutation_p.G269S|ATN1_uc001qry.1_Missense_Mutation_p.G268S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	269					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TGGGGCTAGTGGTGCTCCCCC	0.622													A	7045235	G	A	7045235	3	1	224	1	0	0	0	0	1	0	0	0	1111	1348	47	4	819	4	ATN1	12	7045235	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08		7045235	126806660	35	114302											
DEPDC4	120863	broad.mit.edu	37	chr12	100660815	100660816	+	Frame_Shift_Ins	INS	-	-	C													aacctcggagtcaaaagaacINScgccataagctcgcgcgctg					rs142975288	by1000genomes	TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr12:100660814_100660815A>AC	uc009ztv.1	-	0	43_44	c.40_41T>GT	c.(40-42)gttfs	p.V14fs	SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Frame_Shift_Ins_p.V14fs|DEPDC4_uc001thj.1_Frame_Shift_Ins_p.V14fs|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	14					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AGTCAAAAGAACCGCCATAAGC	0.634													C	100660816	-	C	100660815	7	5	224	1	0	1	1	0	0	0	0	0	4441	507	18	0	864	0	DEPDC4	12	100660815	Frame_Shift_Ins	INS	-	TCGA-D7-8578-01A-21D-2340-08	93615580	100660815	33191080	36	114303											
DPF3	8110	broad.mit.edu	37	chr14	73190342	73190342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcatccccaacttaccCgtcctctagtcctgttcttt	4	16	3	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr14:73190342C>T	uc001xnc.2	-	5	537	c.524G>A	c.(523-525)CGG>CAG	p.R175Q	DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.R175Q|DPF3_uc010ttq.1_Missense_Mutation_p.R185Q	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	175					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAACTTACCCGTCCTCTAGT	0.478													T	73190342	C	T	73190342	3	4	224	1	0	0	0	0	1	0	0	0	4718	666	23	1	569	1	DPF3	14	73190342	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08		73190342	34159198	37	114304											
C14orf102	55051	broad.mit.edu	37	chr14	90767687	90767687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagtggccagcctgccGcagaaagtggcactgctgaa	13	12	1	3			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr14:90767687G>A	uc001xyi.1	-	7	1472	c.1441C>T	c.(1441-1443)CGG>TGG	p.R481W	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.R250W	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	481							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CCAGCCTGCCGCAGAAAGTGG	0.517													A	90767687	G	A	90767687	3	1	224	1	0	0	0	0	1	0	0	0	1735	1086	38	1	2085	1	C14orf102	14	90767687	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	17577345	90767687	16581853	38	114305											
PML	5371	broad.mit.edu	37	chr15	74325745	74325745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacgtggccagtggcgcCggggaggcaggtagggaggt	20	9	0	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr15:74325745C>T	uc002awv.2	+	6	1787	c.1647C>T	c.(1645-1647)GCC>GCT	p.A549A	PML_uc002awm.2_Silent_p.A549A|PML_uc002awl.2_Intron|PML_uc002awj.1_Silent_p.A501A|PML_uc002awk.2_Silent_p.A549A|PML_uc002awn.2_Silent_p.A549A|PML_uc002awo.2_Silent_p.A501A|PML_uc002awp.2_Intron|PML_uc002awq.2_Silent_p.A549A|PML_uc002awr.2_Silent_p.A549A|PML_uc002aws.2_Silent_p.A501A|PML_uc002awt.2_Intron|PML_uc002awu.2_Silent_p.A501A|PML_uc010ule.1_Silent_p.A110A|PML_uc002awx.2_Silent_p.A259A|PML_uc002awy.2_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	549					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|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 binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CCAGTGGCGCCGGGGAGGCAG	0.662			T	RARA|PAX5	APL|ALL								T	74325745	C	T	74325745	2	4	224	1	0	0	0	0	0	0	0	1	12135	639	23	1		1	PML	15	74325745	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08		74325745	28205647	39	114306											
C16orf71	146562	broad.mit.edu	37	chr16	4797531	4797531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggggcagagcgcccagGctcgactcccaagaggcagg	15	14	0	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr16:4797531G>T	uc002cxn.2	+	9	1930	c.1468G>T	c.(1468-1470)GCT>TCT	p.A490S		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	490										central_nervous_system(1)	1						GAGCGCCCAGGCTCGACTCCC	0.657													T	4797531	G	T	4797531	3	4	224	1	0	0	0	0	1	0	0	0	1830	1203	42	5	1498	5	C16orf71	16	4797531	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08		4797531	85557222	40	114307											
RBBP6	5930	broad.mit.edu	37	chr16	24583197	24583198	+	Frame_Shift_Ins	INS	-	-	A													ggttgaaaaagagcaaattaINSctgggcaaattgacaagagt							TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr16:24583196_24583197T>TA	uc002dmh.3	+	17	5849_5850	c.4809_4810T>TA	c.(4807-4812)attactfs	p.I1603fs	RBBP6_uc002dmi.3_Frame_Shift_Ins_p.I1569fs|RBBP6_uc010bxr.3_Frame_Shift_Ins_p.I763fs|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.I1436fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1603					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	p.Q1602R(1)		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)		AAGAGCAAATTACTGGGCAAAT	0.381													A	24583198	-	A	24583197	7	5	224	1	0	1	1	0	0	0	0	0	13103	391	14	0	4934	0	RBBP6	16	24583197	Frame_Shift_Ins	INS	-	TCGA-D7-8578-01A-21D-2340-08	19785666	24583197	65771556	41	114308											
NLRC5	84166	broad.mit.edu	37	chr16	57059473	57059473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggaagatggtgctgaCgtgagcatctcggacctctt	14	8	2	3			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr16:57059473C>T	uc002ekk.1	+	6	843	c.618C>T	c.(616-618)GAC>GAT	p.D206D	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.D11D|NLRC5_uc002ekl.2_Silent_p.D11D|NLRC5_uc002ekm.2_Silent_p.D11D|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	206					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				ATGGTGCTGACGTGAGCATCT	0.612													T	57059473	C	T	57059473	2	4	224	1	0	0	0	0	0	0	0	1	10470	535	19	1		1	NLRC5	16	57059473	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08	32476276	57059473	33295280	42	114309											
GPR114	221188	broad.mit.edu	37	chr16	57609350	57609350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgcctttctcttgcagGtttcttccttttcctgtggt	7	14	2	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr16:57609350G>T	uc002elx.3	+	12	1572	c.1487G>T	c.(1486-1488)GGT>GTT	p.G496V	GPR114_uc010vhr.1_3'UTR|GPR114_uc002ely.2_Missense_Mutation_p.G496V	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	496	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						TCTCTTGCAGGTTTCTTCCTT	0.617													T	57609350	G	T	57609350	3	4	224	1	0	0	0	0	1	0	0	0	6631	1275	44	5	1529	5	GPR114	16	57609350	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	549877	57609350	32745403	43	114310											
GEMIN4	50628	broad.mit.edu	37	chr17	649304	649304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcaacatctaacctcAagaaaggcaggacaaattcc	5	13	4	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr17:649304A>C	uc002frs.1	-	2	2098	c.1979T>G	c.(1978-1980)TTG>TGG	p.L660W		NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	660					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ATCTAACCTCAAGAAAGGCAG	0.532													C	649304	A	C	649304	3	2	224	1	0	0	0	0	1	0	0	0	6330	131	5	5	1201	5	GEMIN4	17	649304	Missense_Mutation	SNP	A	TCGA-D7-8578-01A-21D-2340-08		649304	80545906	44	114311											
YWHAE	7531	broad.mit.edu	37	chr17	1264542	1264542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctccgcagcctccttcCtgtcgtttcctgtggcaaat	8	14	1	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr17:1264542C>T	uc002fsj.2	-	4	574	c.422G>A	c.(421-423)AGG>AAG	p.R141K	YWHAE_uc002fsk.2_Missense_Mutation_p.R119K|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	141					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGCCTCCTTCCTGTCGTTTCC	0.413													T	1264542	C	T	1264542	3	4	224	1	0	0	0	0	1	0	0	0	17499	681	24	4	357	4	YWHAE	17	1264542	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08	615238	1264542	79930668	45	114312											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr17:7577121G>T	uc002gim.2	-	8	1011	c.817C>A	c.(817-819)CGT>AGT	p.R273S	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141S|TP53_uc010cng.1_Missense_Mutation_p.R141S|TP53_uc002gii.1_Missense_Mutation_p.R141S|TP53_uc010cnh.1_Missense_Mutation_p.R273S|TP53_uc010cni.1_Missense_Mutation_p.R273S|TP53_uc002gij.2_Missense_Mutation_p.R273S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577121	G	T	7577121	3	4	224	1	0	0	0	0	1	0	0	0	16378	1087	38	5	469	5	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	6312579	7577121	73618089	46	114313											
SLC13A2	9058	broad.mit.edu	37	chr17	26818792	26818792	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacttcgcctcctggtTcagcttcgccttccccacca	8	17	1	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr17:26818792T>A	uc002hbh.2	+	6	867	c.800T>A	c.(799-801)TTC>TAC	p.F267Y	SLC13A2_uc010wal.1_Missense_Mutation_p.F224Y|SLC13A2_uc010wam.1_Missense_Mutation_p.F223Y|SLC13A2_uc010wan.1_Missense_Mutation_p.F316Y|SLC13A2_uc010wao.1_Missense_Mutation_p.F224Y|SLC13A2_uc002hbi.2_Missense_Mutation_p.F196Y	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	267						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCCTCCTGGTTCAGCTTCGCC	0.582													A	26818792	T	A	26818792	3	1	224	1	0	0	0	0	1	0	0	0	14392	1783	62	5	969	5	SLC13A2	17	26818792	Missense_Mutation	SNP	T	TCGA-D7-8578-01A-21D-2340-08	19241671	26818792	54376418	47	114314											
RALBP1	10928	broad.mit.edu	37	chr18	9535916	9535916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgcccagcagggataGgaaggagacgtccatctgag	14	11	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr18:9535916G>A	uc002kob.2	+	10	2172	c.1949G>A	c.(1948-1950)AGG>AAG	p.R650K	RALBP1_uc002koc.2_Missense_Mutation_p.R650K	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	650					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			central_nervous_system(1)	1						AGCAGGGATAGGAAGGAGACG	0.632													A	9535916	G	A	9535916	3	1	224	1	0	0	0	0	1	0	0	0	13012	1000	35	4	1983	4	RALBP1	18	9535916	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08		9535916	68541332	48	114315											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260212	44260212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacagagctccagcgcCgcagtgaccagaatgaggcc	11	15	1	4			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr18:44260212C>T	uc002lcj.1	-	7	1492	c.924G>A	c.(922-924)GCG>GCA	p.A308A	ST8SIA5_uc002lci.1_Silent_p.A155A|ST8SIA5_uc010xcy.1_Silent_p.A344A|ST8SIA5_uc010xcz.1_Silent_p.A277A	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	308	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						GCTCCAGCGCCGCAGTGACCA	0.607													T	44260212	C	T	44260212	2	4	224	1	0	0	0	0	0	0	0	1	15234	639	23	1		1	ST8SIA5	18	44260212	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08	34724296	44260212	33817036	49	114316											
SYDE1	85360	broad.mit.edu	37	chr19	15224376	15224376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtctcccttcagatcccCgcctgccccgacaatctcca	5	21	3	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr19:15224376C>T	uc002nah.1	+	8	1841	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	SYDE1_uc002nai.1_Missense_Mutation_p.R537C|SYDE1_uc002naj.1_Missense_Mutation_p.R261C	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	604	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						TTCAGATCCCCGCCTGCCCCG	0.607													T	15224376	C	T	15224376	3	4	224	1	0	0	0	0	1	0	0	0	15432	652	23	1	1840	1	SYDE1	19	15224376	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08		15224376	43904607	50	114317											
BCKDHA	593	broad.mit.edu	37	chr19	41920017	41920017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgtggggagtgccgccGccctggacaacacggacctg	15	15	0	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr19:41920017G>A	uc002oqq.2	+	4	468	c.439G>A	c.(439-441)GCC>ACC	p.A147T	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.A181T|BCKDHA_uc002oqp.1_Missense_Mutation_p.A39T|BCKDHA_uc002oqr.2_Missense_Mutation_p.A147T|BCKDHA_uc010xvz.1_Missense_Mutation_p.A125T	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	147					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				0						GAGTGCCGCCGCCCTGGACAA	0.607													A	41920017	G	A	41920017	3	1	224	1	0	0	0	0	1	0	0	0	1359	1087	38	1	453	1	BCKDHA	19	41920017	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	26695641	41920017	17208966	51	114318											
NLRP2	55655	broad.mit.edu	37	chr19	55494535	55494535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacggagacatcctccGccaggacagagtctccaaag	11	14	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr19:55494535G>A	uc002qij.2	+	6	1555	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H	NLRP2_uc010yfp.1_Missense_Mutation_p.R467H|NLRP2_uc010esn.2_Missense_Mutation_p.R466H|NLRP2_uc010eso.2_Missense_Mutation_p.R487H|NLRP2_uc010esp.2_Missense_Mutation_p.R468H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	490	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACATCCTCCGCCAGGACAGA	0.602													A	55494535	G	A	55494535	3	1	224	1	0	0	0	0	1	0	0	0	10477	1087	38	1	1487	1	NLRP2	19	55494535	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	13574518	55494535	3634448	52	114319											
CENPB	1059	broad.mit.edu	37	chr20	3766016	3766016	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggctccactgcctgcCaggcggcagccacaaagtgc	12	16	0	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr20:3766016C>G	uc002wjk.2	-	1	1322	c.1115G>C	c.(1114-1116)TGG>TCG	p.W372S	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	372					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CACTGCCTGCCAGGCGGCAGC	0.627													G	3766016	C	G	3766016	3	3	224	1	0	0	0	0	1	0	0	0	3227	595	21	5	688	5	CENPB	20	3766016	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08		3766016	59259504	53	114320											
MYLK2	85366	broad.mit.edu	37	chr20	30414609	30414609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcacacagcatcgagggCggagagctcttcgagaggat	15	9	1	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr20:30414609C>T	uc002wwq.2	+	8	1194	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	MYLK2_uc002wws.2_5'UTR	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	364	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			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCATCGAGGGCGGAGAGCTCT	0.592													T	30414609	C	T	30414609	2	4	224	1	0	0	0	0	0	0	0	1	10057	755	27	1		1	MYLK2	20	30414609	Silent	SNP	C	TCGA-D7-8578-01A-21D-2340-08	26648593	30414609	32610911	54	114321											
PREX1	57580	broad.mit.edu	37	chr20	47324856	47324856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagcttctccatctgcCgcttggtctcattgatgttg	8	13	3	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr20:47324856C>T	uc002xtw.1	-	6	748	c.725G>A	c.(724-726)CGG>CAG	p.R242Q		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	242					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCCATCTGCCGCTTGGTCTC	0.642													T	47324856	C	T	47324856	3	4	224	1	0	0	0	0	1	0	0	0	12476	652	23	1	4394	1	PREX1	20	47324856	Missense_Mutation	SNP	C	TCGA-D7-8578-01A-21D-2340-08	16910247	47324856	15700664	55	114322											
B4GALT5	9334	broad.mit.edu	37	chr20	48263510	48263510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtactcactcatggaaGggagtctttcagggcaggta	13	8	4	0			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr20:48263510G>A	uc002xuu.3	-	3	550	c.356C>T	c.(355-357)CCT>CTT	p.P119L		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	119	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACTCATGGAAGGGAGTCTTTC	0.463													A	48263510	G	A	48263510	3	1	224	1	0	0	0	0	1	0	0	0	1274	1000	35	4	838	4	B4GALT5	20	48263510	Missense_Mutation	SNP	G	TCGA-D7-8578-01A-21D-2340-08	938654	48263510	14762010	56	114323											
UFD1L	7353	broad.mit.edu	37	chr22	19444143	19444143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagcatagccactgtgGtcggcttcaccttcctgaca	8	15	2	1			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chr22:19444143G>A	uc002zpm.2	-	9	775	c.645C>T	c.(643-645)GAC>GAT	p.D215D	UFD1L_uc002zpo.2_Silent_p.D215D|UFD1L_uc011agy.1_Silent_p.D215D|UFD1L_uc002zpp.2_Silent_p.D168D	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	215					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					AGCCACTGTGGTCGGCTTCAC	0.567													A	19444143	G	A	19444143	2	1	224	1	0	0	0	0	0	0	0	1	16932	1252	44	4		4	UFD1L	22	19444143	Silent	SNP	G	TCGA-D7-8578-01A-21D-2340-08		19444143	31860423	57	114324											
FAM120C	54954	broad.mit.edu	37	chrX	54107882	54107882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctccttggggtgggaTtggatggagacctggcaaga	15	7	0	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chrX:54107882T>C	uc004dsz.3	-	14	2934	c.2851A>G	c.(2851-2853)ATC>GTC	p.I951V	FAM120C_uc011moh.1_Silent_p.Q813Q	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	951										ovary(1)|central_nervous_system(1)	2						TGGGGTGGGATTGGATGGAGA	0.393													C	54107882	T	C	54107882	3	2	224	1	0	0	0	0	1	0	0	0	5418	1493	52	3	451	3	FAM120C	23	54107882	Missense_Mutation	SNP	T	TCGA-D7-8578-01A-21D-2340-08		54107882	101162678	58	114325											
NAP1L2	4674	broad.mit.edu	37	chrX	72433514	72433514	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatctgaaagcttaactttaAtatctgtcaggagcttcaga	8	7	4	2			TCGA-D7-8578-01A-21D-2340-08	TCGA-D7-8578-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3	33b49419-1891-4766-96fd-a54a188f70dc	g.chrX:72433514A>T	uc004ebi.2	-	1	1171	c.815T>A	c.(814-816)ATT>AAT	p.I272N	NAP1L2_uc011mqj.1_Missense_Mutation_p.I130N	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	272					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CTTAACTTTAATATCTGTCAG	0.363													T	72433514	A	T	72433514	3	4	224	1	0	0	0	0	1	0	0	0	10157	101	4	5	571	5	NAP1L2	23	72433514	Missense_Mutation	SNP	A	TCGA-D7-8578-01A-21D-2340-08	18325632	72433514	82837046	59	114326											
TAS1R2	80834	broad.mit.edu	37	chr1	19181198	19181198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacaatggtcaccaggcGctggcgctcctctgacgtca	11	15	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:19181198G>A	uc001bba.1	-	3	767	c.766C>T	c.(766-768)CGC>TGC	p.R256C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	256	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	GTCACCAGGCGCTGGCGCTCC	0.637													A	19181198	G	A	19181198	3	1	225	1	0	0	0	0	1	0	0	0	15560	1087	38	1	1769	1	TAS1R2	1	19181198	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08		19181198	230069423	1	114327											
E2F2	1870	broad.mit.edu	37	chr1	23836399	23836399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaacaggtccccaaggtcGtaggagtcgaagagatcgct	12	10	1	1	rs146034018		TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:23836399G>A	uc001bhe.1	-	7	1715	c.1287C>T	c.(1285-1287)TAC>TAT	p.Y429Y		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	429	Transactivation (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCCCAAGGTCGTAGGAGTCGA	0.622													A	23836399	G	A	23836399	2	1	225	1	0	0	0	0	0	0	0	1	4867	1140	40	1		1	E2F2	1	23836399	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	4655201	23836399	225414222	2	114328											
CCDC21	64793	broad.mit.edu	37	chr1	26566316	26566316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactgaggggatctctcaCgtcacttcaccgagtgagta	10	12	4	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:26566316C>T	uc001bls.1	+	2	173	c.42C>T	c.(40-42)CAC>CAT	p.H14H	CCDC21_uc001blr.2_Silent_p.H14H|CCDC21_uc010ofa.1_Silent_p.H14H	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	14						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)		GGATCTCTCACGTCACTTCAC	0.388													T	26566316	C	T	26566316	2	4	225	1	0	0	0	0	0	0	0	1	2796	535	19	1		1	CCDC21	1	26566316	Silent	SNP	C	TCGA-D7-8579-01A-11D-2340-08	2729917	26566316	222684305	3	114329											
ARID1A	8289	broad.mit.edu	37	chr1	27100357	27100357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagccccttccccagcCagcagactacaatgtatcaa	7	16	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:27100357C>T	uc001bmv.1	+	17	4442	c.4069C>T	c.(4069-4071)CAG>TAG	p.Q1357*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1356*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1357*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q974*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q203*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1357	Gln-rich.				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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CTTCCCCAGCCAGCAGACTAC	0.507			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27100357	C	T	27100357	4	4	225	1	0	0	0	0	0	1	0	0	913	595	21	4	4135	4	ARID1A	1	27100357	Nonsense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	534041	27100357	222150264	4	114330											
C1orf173	127254	broad.mit.edu	37	chr1	75038657	75038657	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttcatgaagatgctccaAgttcagggctgctgcttcat	9	10	3	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:75038657A>C	uc001dgg.2	-	14	2956	c.2737T>G	c.(2737-2739)TTG>GTG	p.L913V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	913	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGATGCTCCAAGTTCAGGGCT	0.542													C	75038657	A	C	75038657	3	2	225	1	0	0	0	0	1	0	0	0	2014	69	3	5	1859	5	C1orf173	1	75038657	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	47938300	75038657	174211964	5	114331											
BTBD8	284697	broad.mit.edu	37	chr1	92573497	92573497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatttattgaagctttatGtgaaaccttgttgcccagat	8	6	0	4			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:92573497G>T	uc001doo.2	+	4	868	c.601G>T	c.(601-603)GTG>TTG	p.V201L	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	201						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GAAGCTTTATGTGAAACCTTG	0.318													T	92573497	G	T	92573497	3	4	225	1	0	0	0	0	1	0	0	0	1547	1377	48	5	615	5	BTBD8	1	92573497	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	17534840	92573497	156677124	6	114332											
CD160	11126	broad.mit.edu	37	chr1	145699047	145699047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattatggctgaactcaagGtgttgtctttgtttcaatcc	8	8	4	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:145699047G>A	uc001eol.1	-	5	662	c.444C>T	c.(442-444)CAC>CAT	p.H148H	NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Silent_p.H39H|CD160_uc010oyz.1_RNA	NM_007053	NP_008984	O95971	BY55_HUMAN	CD160 antigen precursor	148					cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding				0	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)			TGAACTCAAGGTGTTGTCTTT	0.468													A	145699047	G	A	145699047	2	1	225	1	0	0	0	0	0	0	0	1	2966	1252	44	4		4	CD160	1	145699047	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	53125550	145699047	103551574	7	114333											
FLG	2312	broad.mit.edu	37	chr1	152280800	152280800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgtttttctgcttgcacTtctggatcctgactgcccac	7	12	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:152280800T>G	uc001ezu.1	-	3	6598	c.6562A>C	c.(6562-6564)AGT>CGT	p.S2188R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.532									Ichthyosis				G	152280800	T	G	152280800	3	3	225	1	0	0	0	0	1	0	0	0	5922	1609	56	5	5627	5	FLG	1	152280800	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	6581753	152280800	96969821	8	114334											
FCRL3	115352	broad.mit.edu	37	chr1	157667628	157667628	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaccttttgatgagtgTttttgttgtctttcccctga	8	7	1	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:157667628T>G	uc001frb.2	-	5	672	c.380A>C	c.(379-381)AAC>ACC	p.N127T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.N127T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.N127T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	127	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TTGATGAGTGTTTTTGTTGTC	0.408													G	157667628	T	G	157667628	3	3	225	1	0	0	0	0	1	0	0	0	5796	1725	60	5	1868	5	FCRL3	1	157667628	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	5386828	157667628	91582993	9	114335											
OR10R2	343406	broad.mit.edu	37	chr1	158449668	158449668	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggaacaaaggagtgcAtgccccaaattcttatattc	8	8	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:158449668A>T	uc010pik.1	+	1	1	c.1A>T	c.(1-3)ATG>TTG	p.M1L	uc001fso.1_Intron	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					aaagGAGTGCATGCCCCAAAT	0.224													T	158449668	A	T	158449668	3	4	225	1	0	0	0	0	1	0	0	0	10917	231	8	5	3	5	OR10R2	1	158449668	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	782040	158449668	90800953	10	114336											
SELP	6403	broad.mit.edu	37	chr1	169564011	169564011	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccattaagtaactggccctCtagacaatggaaagagcaga	10	9	1	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:169564011C>G	uc001ggi.3	-	13	2271	c.2206G>C	c.(2206-2208)GAG>CAG	p.E736Q	SELP_uc001ggh.2_Missense_Mutation_p.E571Q|SELP_uc009wvr.2_Missense_Mutation_p.E736Q	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	736	Extracellular (Potential).|Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AACTGGCCCTCTAGACAATGG	0.458													G	169564011	C	G	169564011	3	3	225	1	0	0	0	0	1	0	0	0	14019	922	32	5	302	5	SELP	1	169564011	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	11114343	169564011	79686610	11	114337											
FAM5B	57795	broad.mit.edu	37	chr1	177250278	177250278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaagtccctggatgacAgctccaatgagacaatctac	8	11	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:177250278A>G	uc001glf.2	+	8	2278	c.1966A>G	c.(1966-1968)AGC>GGC	p.S656G	FAM5B_uc001glg.2_Missense_Mutation_p.S551G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	656						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CCTGGATGACAGCTCCAATGA	0.458													G	177250278	A	G	177250278	3	3	225	1	0	0	0	0	1	0	0	0	5593	188	7	3	1992	3	FAM5B	1	177250278	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	7686267	177250278	72000343	12	114338											
CACNA1E	777	broad.mit.edu	37	chr1	181727164	181727164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacaccttccagtaccgcGtgtggcactttgtggtgtct	11	12	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:181727164G>A	uc001gow.2	+	31	4576	c.4411G>A	c.(4411-4413)GTG>ATG	p.V1471M	CACNA1E_uc009wxs.2_Missense_Mutation_p.V1359M|CACNA1E_uc001gox.1_Missense_Mutation_p.V697M|CACNA1E_uc009wxt.2_Missense_Mutation_p.V697M	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1471	IV.|Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CCAGTACCGCGTGTGGCACTT	0.532													A	181727164	G	A	181727164	3	1	225	1	0	0	0	0	1	0	0	0	2542	1145	40	1	4533	1	CACNA1E	1	181727164	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	4476886	181727164	67523457	13	114339											
PLXNA2	5362	broad.mit.edu	37	chr1	208390683	208390683	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccggctggacagggtcggGaagtaatcctgcttcccatc	12	12	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:208390683G>A	uc001hgz.2	-	2	1343	c.585C>T	c.(583-585)TTC>TTT	p.F195F	PLXNA2_uc001hha.3_Silent_p.F249F	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	195	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACAGGGTCGGGAAGTAATCCT	0.572													A	208390683	G	A	208390683	2	1	225	1	0	0	0	0	0	0	0	1	12120	1165	41	4		4	PLXNA2	1	208390683	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	26663519	208390683	40859938	14	114340											
RPS6KC1	26750	broad.mit.edu	37	chr1	213349743	213349743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgatatcttccattagCctccaggatcactaagttca	5	11	4	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr1:213349743C>T	uc010ptr.1	+	8	1111	c.952C>T	c.(952-954)CCT>TCT	p.P318S	RPS6KC1_uc001hkd.2_Missense_Mutation_p.P306S|RPS6KC1_uc010pts.1_Intron|RPS6KC1_uc010ptt.1_Intron|RPS6KC1_uc010ptu.1_Missense_Mutation_p.P137S|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.P137S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	318					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTCCATTAGCCTCCAGGATC	0.473													T	213349743	C	T	213349743	3	4	225	1	0	0	0	0	1	0	0	0	13658	753	26	2	982	2	RPS6KC1	1	213349743	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	4959060	213349743	35900878	15	114341											
TAF1B	9014	broad.mit.edu	37	chr2	10015998	10015998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttatctcctaagaaacGtctgtctgctctggatctct	6	12	5	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr2:10015998G>A	uc002qzz.2	+	7	658	c.558G>A	c.(556-558)ACG>ACA	p.T186T	TAF1B_uc010exc.2_Silent_p.T186T|TAF1B_uc002qzy.3_Silent_p.T186T|TAF1B_uc010yja.1_Intron|TAF1B_uc010exd.2_Intron	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	186					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			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTAAGAAACGTCTGTCTGCT	0.363													A	10015998	G	A	10015998	2	1	225	1	0	0	0	0	0	0	0	1	15517	1132	40	1		1	TAF1B	2	10015998	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08		10015998	233183375	16	114342											
EGR4	1961	broad.mit.edu	37	chr2	73518869	73518869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgattgagctcgtcggagcGcgcaaagctccgcacacaac	12	14	0	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr2:73518869G>A	uc010yrj.1	-	2	1561	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	EGR4_uc010yrk.1_Missense_Mutation_p.R495C	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	392						intracellular	nucleic acid binding|zinc ion binding				0						TCGTCGGAGCGCGCAAAGCTC	0.687													A	73518869	G	A	73518869	3	1	225	1	0	0	0	0	1	0	0	0	4974	1087	38	1	287	1	EGR4	2	73518869	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	63502871	73518869	169680504	17	114343											
STAMBP	10617	broad.mit.edu	37	chr2	74077571	74077571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtctgattactgcaaCacagagaacgaagaagaact	11	8	1	4			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr2:74077571C>T	uc002sjs.2	+	7	986	c.936C>T	c.(934-936)AAC>AAT	p.N312N	STAMBP_uc002sjt.2_Silent_p.N312N|STAMBP_uc002sju.2_Silent_p.N312N|STAMBP_uc002sjv.2_Silent_p.N312N	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	312	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4						ATTACTGCAACACAGAGAACG	0.458													T	74077571	C	T	74077571	2	4	225	1	0	0	0	0	0	0	0	1	15249	477	17	4		4	STAMBP	2	74077571	Silent	SNP	C	TCGA-D7-8579-01A-11D-2340-08	558702	74077571	169121802	18	114344											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660638	125660638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcttcatggtggacTcagatgtgaatgcagtgacc	14	8	2	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr2:125660638T>C	uc002tno.2	+	22	3977	c.3613T>C	c.(3613-3615)TCA>CCA	p.S1205P	CNTNAP5_uc010flu.2_Missense_Mutation_p.S1206P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1205	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGGTGGACTCAGATGTGAA	0.532													C	125660638	T	C	125660638	3	2	225	1	0	0	0	0	1	0	0	0	3650	1551	54	3	3699	3	CNTNAP5	2	125660638	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	51583067	125660638	117538735	19	114345											
STAM2	10254	broad.mit.edu	37	chr2	153001434	153001434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcctctttgtttttgTtcgatgacgtaccattcttg	6	10	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr2:153001434T>C	uc002tyc.3	-	6	835	c.485A>G	c.(484-486)AAC>AGC	p.N162S	STAM2_uc010foa.1_Missense_Mutation_p.N162S|STAM2_uc002tyd.2_Missense_Mutation_p.N162S	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	162					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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTTGTTTTTGTTCGATGACGT	0.318													C	153001434	T	C	153001434	3	2	225	1	0	0	0	0	1	0	0	0	15248	1725	60	3	1128	3	STAM2	2	153001434	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	27340796	153001434	90197939	20	114346											
TTN	7273	broad.mit.edu	37	chr2	179583304	179583304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacactgaaatcagccaAtcttttcacaaaggtggctg	7	11	4	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr2:179583304A>C	uc010zfg.1	-	82	21021	c.20797T>G	c.(20797-20799)TTG>GTG	p.L6933V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3594V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7860							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATCAGCCAATCTTTTCACA	0.403													C	179583304	A	C	179583304	3	2	225	1	0	0	0	0	1	0	0	0	16732	98	4	5	80112	5	TTN	2	179583304	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	26581870	179583304	63616069	21	114347											
ZNF804A	91752	broad.mit.edu	37	chr2	185803464	185803464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgctgcagctgcagCtgcagccgcagctgcaggaa	14	13	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr2:185803464C>T	uc002uph.2	+	4	3935	c.3341C>T	c.(3340-3342)GCT>GTT	p.A1114V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1114						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						gcagctgcagctgcagccgca	0.348													T	185803464	C	T	185803464	3	4	225	1	0	0	0	0	1	0	0	0	18167	797	28	2	3355	2	ZNF804A	2	185803464	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	6220160	185803464	57395909	22	114348											
FBLN2	2199	broad.mit.edu	37	chr3	13678019	13678019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacatccagggtagcttcCgctgcctgcgcttcgagtgt	11	13	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr3:13678019C>T	uc011avb.1	+	16	3273	c.3148C>T	c.(3148-3150)CGC>TGC	p.R1050C	FBLN2_uc011auz.1_Missense_Mutation_p.R1076C|FBLN2_uc011ava.1_Missense_Mutation_p.R1097C|FBLN2_uc011avc.1_Missense_Mutation_p.R1097C	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	1050	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGGTAGCTTCCGCTGCCTGCG	0.602													T	13678019	C	T	13678019	3	4	225	1	0	0	0	0	1	0	0	0	5699	652	23	1	2041	1	FBLN2	3	13678019	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08		13678019	184344411	23	114349											
KCNMB2	10242	broad.mit.edu	37	chr3	178560673	178560673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgttgccatggtgaaacTtacacagtacctctccctac	6	12	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr3:178560673T>C	uc003fjd.2	+	5	999	c.656T>C	c.(655-657)CTT>CCT	p.L219P	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.L219P|KCNMB2_uc003fjf.2_Missense_Mutation_p.L219P|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	219	Cytoplasmic (Potential).				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			ovary(1)	1	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)			ATGGTGAAACTTACACAGTAC	0.398													C	178560673	T	C	178560673	3	2	225	1	0	0	0	0	1	0	0	0	8075	1609	56	3	670	3	KCNMB2	3	178560673	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	164882654	178560673	19461757	24	114350											
KIAA1530	57654	broad.mit.edu	37	chr4	1377628	1377628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctcatccaggtacagcGggaaaggcagggggaagaag	17	8	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr4:1377628G>A	uc003gde.3	+	13	2383	c.1936G>A	c.(1936-1938)GGG>AGG	p.G646R	KIAA1530_uc010ibv.2_Missense_Mutation_p.G197R	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	646											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CAGGTACAGCGGGAAAGGCAG	0.572													A	1377628	G	A	1377628	3	1	225	1	0	0	0	0	1	0	0	0	8241	1116	39	1	1982	1	KIAA1530	4	1377628	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08		1377628	189776648	25	114351											
KLB	152831	broad.mit.edu	37	chr4	39439478	39439478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaacagtaaacagaaagagCggaaacctaagtcttcagca	8	8	2	2	rs138571801		TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr4:39439478C>T	uc003gua.2	+	3	1565	c.1468C>T	c.(1468-1470)CGG>TGG	p.R490W	KLB_uc011byj.1_Missense_Mutation_p.R490W	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	490	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						ACAGAAAGAGCGGAAACCTAA	0.438													T	39439478	C	T	39439478	3	4	225	1	0	0	0	0	1	0	0	0	8332	759	27	1	1478	1	KLB	4	39439478	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	38061850	39439478	151714798	26	114352											
UNC5C	8633	broad.mit.edu	37	chr4	96163619	96163619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagttcttggattgcaAgacgaggccgtcgcagtcct	13	10	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr4:96163619A>G	uc003htp.1	-	7	1223	c.1069T>C	c.(1069-1071)TTG>CTG	p.L357L	UNC5C_uc010ilc.1_Silent_p.L357L|UNC5C_uc003htq.2_Silent_p.L357L	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	357	Extracellular (Potential).|TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGGATTGCAAGACGAGGCCG	0.542													G	96163619	A	G	96163619	2	3	225	1	0	0	0	0	0	0	0	1	16990	69	3	3		3	UNC5C	4	96163619	Silent	SNP	A	TCGA-D7-8579-01A-11D-2340-08	56724141	96163619	94990657	27	114353											
NPY2R	4887	broad.mit.edu	37	chr4	156136124	156136124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccttccgctgtgagcagCggttggatgccattcactct	12	13	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr4:156136124C>T	uc003ioq.2	+	2	1528	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	NPY2R_uc003ior.2_Missense_Mutation_p.R345W	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	345	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGTGAGCAGCGGTTGGATGC	0.517													T	156136124	C	T	156136124	3	4	225	1	0	0	0	0	1	0	0	0	10609	759	27	1	1035	1	NPY2R	4	156136124	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	59972505	156136124	35018152	28	114354											
TMEM144	55314	broad.mit.edu	37	chr4	159136418	159136418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatctgatattacattgtcCaaagttttggccttttgcaa	6	8	1	1	rs11556229		TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr4:159136418C>G	uc003ipx.2	+	4	705	c.185C>G	c.(184-186)CCA>CGA	p.P62R	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	62						integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TTACATTGTCCAAAGTTTTGG	0.358													G	159136418	C	G	159136418	3	3	225	1	0	0	0	0	1	0	0	0	16055	594	21	5	191	5	TMEM144	4	159136418	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	3000294	159136418	32017858	29	114355											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239960	5239960	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaattttcgggcactacTttcgactacagacggtccta	7	11	0	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr5:5239960T>G	uc003jdl.2	+	16	2583	c.2445T>G	c.(2443-2445)ACT>ACG	p.T815T	ADAMTS16_uc003jdk.1_Silent_p.T815T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	815	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGGGCACTACTTTCGACTACA	0.512													G	5239960	T	G	5239960	2	3	225	1	0	0	0	0	0	0	0	1	261	1596	56	5		5	ADAMTS16	5	5239960	Silent	SNP	T	TCGA-D7-8579-01A-11D-2340-08		5239960	175675300	30	114356											
ADCY2	108	broad.mit.edu	37	chr5	7804726	7804726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagccaaaattcagtggagTtgaaaagattaagaccattg	9	6	1	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr5:7804726T>G	uc003jdz.1	+	22	2871	c.2804T>G	c.(2803-2805)GTT>GGT	p.V935G	ADCY2_uc011cmo.1_Missense_Mutation_p.V755G|ADCY2_uc010itm.1_Missense_Mutation_p.V131G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	935	Cytoplasmic (Potential).				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			ovary(5)|pancreas(1)|skin(1)	7						TTCAGTGGAGTTGAAAAGATT	0.493													G	7804726	T	G	7804726	3	3	225	1	0	0	0	0	1	0	0	0	294	1725	60	5	2890	5	ADCY2	5	7804726	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	2564766	7804726	173110534	31	114357											
PCDHB8	56128	broad.mit.edu	37	chr5	140558400	140558400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaataagcttcctggTtgtgaaggtctctgccacgg	11	11	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr5:140558400T>C	uc011dai.1	+	1	971	c.785T>C	c.(784-786)GTT>GCT	p.V262A	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	262	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTTCCTGGTTGTGAAGGTC	0.438													C	140558400	T	C	140558400	3	2	225	1	0	0	0	0	1	0	0	0	11548	1725	60	3	787	3	PCDHB8	5	140558400	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	132753674	140558400	40356860	32	114358											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234540	26234540	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcctttgtaaccttcgGcttccccgacttaggcttgg	9	13	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:26234540G>C	uc003nhd.2	-	1	677	c.622C>G	c.(622-624)CCG>GCG	p.P208A		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	208					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GTAACCTTCGGCTTCCCCGAC	0.507													C	26234540	G	C	26234540	3	2	225	1	0	0	0	0	1	0	0	0	7125	1203	42	5	47	5	HIST1H1D	6	26234540	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08		26234540	144880527	33	114359											
CUL7	9820	broad.mit.edu	37	chr6	43019974	43019974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggaggacagggcttgtaTcatccggcctgcactccagc	13	12	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:43019974T>G	uc003otq.2	-	2	856	c.553A>C	c.(553-555)ATA>CTA	p.I185L	CUL7_uc011dvb.1_Missense_Mutation_p.I237L|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	185					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			AGGGCTTGTATCATCCGGCCT	0.577													G	43019974	T	G	43019974	3	3	225	1	0	0	0	0	1	0	0	0	4060	1435	50	5	4739	5	CUL7	6	43019974	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	16785434	43019974	128095093	34	114360											
CUL7	9820	broad.mit.edu	37	chr6	43020260	43020260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagactcctgggagggcccGatgacctggccatcctcgcc	13	16	0	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:43020260G>A	uc003otq.2	-	2	570	c.267C>T	c.(265-267)ATC>ATT	p.I89I	CUL7_uc011dvb.1_Silent_p.I141I|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	89					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			GGGAGGGCCCGATGACCTGGC	0.587													A	43020260	G	A	43020260	2	1	225	1	0	0	0	0	0	0	0	1	4060	1048	37	1		1	CUL7	6	43020260	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	286	43020260	128094807	35	114361											
HS3ST5	222537	broad.mit.edu	37	chr6	114378466	114378466	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctggtaaaatttttgAttaaaaggatgaaagaattt	9	1	1	4			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:114378466A>T	uc003pwg.3	-	2	1028	c.996T>A	c.(994-996)AAT>AAA	p.N332K	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.N332K	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	332	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2		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)		AAAATTTTTGATTAAAAGGAT	0.428													T	114378466	A	T	114378466	3	4	225	1	0	0	0	0	1	0	0	0	7368	330	12	5	48	5	HS3ST5	6	114378466	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	71358206	114378466	56736601	36	114362											
EYA4	2070	broad.mit.edu	37	chr6	133783490	133783490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggccctatccacacattcTttctacaccagcagctcaaa	4	15	3	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:133783490T>C	uc003qec.3	+	8	913	c.455T>C	c.(454-456)CTT>CCT	p.L152P	EYA4_uc011ecq.1_Missense_Mutation_p.L98P|EYA4_uc011ecr.1_Missense_Mutation_p.L98P|EYA4_uc003qed.3_Missense_Mutation_p.L152P|EYA4_uc003qee.3_Missense_Mutation_p.L129P|EYA4_uc011ecs.1_Missense_Mutation_p.L152P|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	152			L -> R (in a colorectal cancer sample; somatic mutation).		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	p.L152R(1)		large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACACATTCTTTCTACACCA	0.448													C	133783490	T	C	133783490	3	2	225	1	0	0	0	0	1	0	0	0	5331	1609	56	3	481	3	EYA4	6	133783490	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	19405024	133783490	37331577	37	114363											
TNFAIP3	7128	broad.mit.edu	37	chr6	138196897	138196897	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatggcccgaagtggacttCagtacaactcactggaagaa	10	11	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:138196897C>T	uc003qhr.2	+	4	625	c.559C>T	c.(559-561)CAG>TAG	p.Q187*	TNFAIP3_uc003qhs.2_Nonsense_Mutation_p.Q187*	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	187	TRAF-binding.|OTU.				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?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AAGTGGACTTCAGTACAACTC	0.453			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								T	138196897	C	T	138196897	4	4	225	1	0	0	0	0	0	1	0	0	16271	827	29	4	569	4	TNFAIP3	6	138196897	Nonsense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	4413407	138196897	32918170	38	114364											
AKAP12	9590	broad.mit.edu	37	chr6	151672610	151672610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggaggtggaaggtggCgtacctgacatagaagagca	17	6	0	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:151672610C>T	uc011eep.1	+	4	3324	c.3084C>T	c.(3082-3084)GGC>GGT	p.G1028G	AKAP12_uc003qoe.2_Silent_p.G1028G|AKAP12_uc003qof.2_Silent_p.G930G|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.G923G	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1028					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGGAAGGTGGCGTACCTGACA	0.582													T	151672610	C	T	151672610	2	4	225	1	0	0	0	0	0	0	0	1	448	755	27	1		1	AKAP12	6	151672610	Silent	SNP	C	TCGA-D7-8579-01A-11D-2340-08	13475713	151672610	19442457	39	114365											
SYNE1	23345	broad.mit.edu	37	chr6	152737734	152737734	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagccgtggctctgcaggaAgtcctttgctcagagctccc	11	14	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:152737734A>C	uc010kiw.2	-	41	6440	c.5838T>G	c.(5836-5838)ACT>ACG	p.T1946T	SYNE1_uc003qot.3_Silent_p.T1953T|SYNE1_uc003qou.3_Silent_p.T1946T|SYNE1_uc010kjb.1_Silent_p.T1929T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1946	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGCAGGAAGTCCTTTGCT	0.502										HNSCC(10;0.0054)			C	152737734	A	C	152737734	2	2	225	1	0	0	0	0	0	0	0	1	15442	59	3	5		5	SYNE1	6	152737734	Silent	SNP	A	TCGA-D7-8579-01A-11D-2340-08	1065124	152737734	18377333	40	114366											
SYNE1	23345	broad.mit.edu	37	chr6	152782807	152782807	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggggctttctttggtAatgaggtgtgctgtctttgt	14	5	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:152782807A>G	uc010kiw.2	-	21	2921	c.2319T>C	c.(2317-2319)ATT>ATC	p.I773I	SYNE1_uc003qot.3_Silent_p.I780I|SYNE1_uc003qou.3_Silent_p.I773I|SYNE1_uc010kjb.1_Silent_p.I756I|SYNE1_uc003qow.2_Silent_p.I68I|SYNE1_uc003qox.1_Silent_p.I289I|SYNE1_uc003qoz.2_Silent_p.I205I|SYNE1_uc003qoy.2_Silent_p.I340I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	773	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTTTGGTAATGAGGTGTG	0.408										HNSCC(10;0.0054)			G	152782807	A	G	152782807	2	3	225	1	0	0	0	0	0	0	0	1	15442	358	13	3		3	SYNE1	6	152782807	Silent	SNP	A	TCGA-D7-8579-01A-11D-2340-08	45073	152782807	18332260	41	114367											
LPA	4018	broad.mit.edu	37	chr6	160963737	160963737	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttgttctgagactgacTtgccagggccaggaatgtgg	13	9	1	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr6:160963737T>G	uc003qtl.2	-	35	5622	c.5502A>C	c.(5500-5502)CAA>CAC	p.Q1834H		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4342	Peptidase S1.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	TGAGACTGACTTGCCAGGGCC	0.507													G	160963737	T	G	160963737	3	3	225	1	0	0	0	0	1	0	0	0	8903	1606	56	5	644	5	LPA	6	160963737	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	8180930	160963737	10151330	42	114368											
DNAH11	8701	broad.mit.edu	37	chr7	21639582	21639582	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgttttttcaagcacaaatgAtcttgttgcctcctgagatt	7	9	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:21639582A>T	uc003svc.2	+	15	2876	c.2845A>T	c.(2845-2847)ATC>TTC	p.I949F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	949	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGCACAAATGATCTTGTTGCC	0.403									Kartagener_syndrome				T	21639582	A	T	21639582	3	4	225	1	0	0	0	0	1	0	0	0	4599	333	12	5	2903	5	DNAH11	7	21639582	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08		21639582	137499081	43	114369											
DNAH11	8701	broad.mit.edu	37	chr7	21658722	21658722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcccccaatcaggtcaAgtttttaataaatgaagcca	5	9	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:21658722A>C	uc003svc.2	+	24	4305	c.4274A>C	c.(4273-4275)AAG>ACG	p.K1425T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1425	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AATCAGGTCAAGTTTTTAATA	0.383									Kartagener_syndrome				C	21658722	A	C	21658722	3	2	225	1	0	0	0	0	1	0	0	0	4599	72	3	5	4368	5	DNAH11	7	21658722	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	19140	21658722	137479941	44	114370											
GLI3	2737	broad.mit.edu	37	chr7	42005807	42005807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagcagcgccaggcgcGtcttcaggctcatcctctcc	10	19	4	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:42005807G>A	uc011kbh.1	-	15	2955	c.2864C>T	c.(2863-2865)ACG>ATG	p.T955M	GLI3_uc011kbg.1_Missense_Mutation_p.T896M	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	955					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CGCCAGGCGCGTCTTCAGGCT	0.721									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005807	G	A	42005807	3	1	225	1	0	0	0	0	1	0	0	0	6439	1145	40	1	1882	1	GLI3	7	42005807	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	20347085	42005807	117132856	45	114371											
NPC1L1	29881	broad.mit.edu	37	chr7	44579660	44579660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagagcaggctgggcaGcgggtgaggagggccttggt	20	7	1	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:44579660G>A	uc003tlb.2	-	2	392	c.336C>T	c.(334-336)CGC>CGT	p.R112R	NPC1L1_uc003tlc.2_Silent_p.R112R|NPC1L1_uc011kbw.1_Silent_p.R112R|NPC1L1_uc003tld.2_Silent_p.R112R	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	112	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	AGGCTGGGCAGCGGGTGAGGA	0.612													A	44579660	G	A	44579660	2	1	225	1	0	0	0	0	0	0	0	1	10571	958	34	2		2	NPC1L1	7	44579660	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	2573853	44579660	114559003	46	114372											
PCLO	27445	broad.mit.edu	37	chr7	82544222	82544222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggactgagtgggctttcTtcttcagaattctgggccac	11	10	4	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:82544222T>G	uc003uhx.2	-	7	13369	c.13080A>C	c.(13078-13080)GAA>GAC	p.E4360D	PCLO_uc003uhv.2_Missense_Mutation_p.E4360D|PCLO_uc010lec.2_Missense_Mutation_p.E1325D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4291					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTGGGCTTTCTTCTTCAGAAT	0.507													G	82544222	T	G	82544222	3	3	225	1	0	0	0	0	1	0	0	0	11583	1606	56	5	2441	5	PCLO	7	82544222	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	37964562	82544222	76594441	47	114373											
FZD1	8321	broad.mit.edu	37	chr7	90896057	90896057	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcacgtcgggcttctggaTctggtccggcaagaccctca	11	14	4	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:90896057T>A	uc003ula.2	+	1	2275	c.1862T>A	c.(1861-1863)ATC>AAC	p.I621N		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	621	Helical; Name=7; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCTTCTGGATCTGGTCCGGC	0.602													A	90896057	T	A	90896057	3	1	225	1	0	0	0	0	1	0	0	0	6128	1435	50	5	1864	5	FZD1	7	90896057	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	8351835	90896057	68242606	48	114374											
TFEC	22797	broad.mit.edu	37	chr7	115580853	115580853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcccctgagacacagTcagttgttggcaatagtcta	11	10	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:115580853T>C	uc003vhj.1	-	8	980	c.796A>G	c.(796-798)ACT>GCT	p.T266A	TFEC_uc003vhk.1_Missense_Mutation_p.T237A|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	266						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			TGAGACACAGTCAGTTGTTGG	0.468													C	115580853	T	C	115580853	3	2	225	1	0	0	0	0	1	0	0	0	15799	1667	58	3	251	3	TFEC	7	115580853	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	24684796	115580853	43557810	49	114375											
DGKI	9162	broad.mit.edu	37	chr7	137237206	137237206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatcatagctggggccaAcctacagggctccccatcca	9	16	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:137237206A>C	uc003vtt.2	-	20	2057	c.2056T>G	c.(2056-2058)TTG>GTG	p.L686V	DGKI_uc003vtu.2_Missense_Mutation_p.L386V	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	686					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			ovary(1)|kidney(1)|skin(1)	3						GCTGGGGCCAACCTACAGGGC	0.517													C	137237206	A	C	137237206	3	2	225	1	0	0	0	0	1	0	0	0	4471	40	2	5	1201	5	DGKI	7	137237206	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	21656353	137237206	21901457	50	114376											
WEE2	494551	broad.mit.edu	37	chr7	141424832	141424832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgttttgaaggattacCggcaccttcccaaagcagac	8	12	1	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr7:141424832C>T	uc003vwn.2	+	9	1634	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	410	Protein kinase.				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			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					GAAGGATTACCGGCACCTTCC	0.463													T	141424832	C	T	141424832	3	4	225	1	0	0	0	0	1	0	0	0	17342	643	23	1	1262	1	WEE2	7	141424832	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	4187626	141424832	17713831	51	114377											
CYP7A1	1581	broad.mit.edu	37	chr8	59412593	59412593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttctcctaattccaAgaataagccatagacaacag	4	12	1	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr8:59412593A>G	uc003xtm.3	-	1	128	c.65T>C	c.(64-66)CTT>CCT	p.L22P		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	22					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			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCTAATTCCAAGAATAAGCCA	0.318									Neonatal_Giant_Cell_Hepatitis				G	59412593	A	G	59412593	3	3	225	1	0	0	0	0	1	0	0	0	4196	72	3	3	1473	3	CYP7A1	8	59412593	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08		59412593	86951429	52	114378											
RIMS2	9699	broad.mit.edu	37	chr8	104930678	104930678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatttcagagatataccGcgaatacctgatagcacaca	6	10	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr8:104930678G>A	uc003yls.2	+	7	1621	c.1380G>A	c.(1378-1380)CCG>CCA	p.P460P	RIMS2_uc003ylp.2_Silent_p.P682P|RIMS2_uc003ylw.2_Silent_p.P490P|RIMS2_uc003ylq.2_Silent_p.P490P|RIMS2_uc003ylr.2_Silent_p.P537P|RIMS2_uc003ylt.2_Silent_p.P83P|RIMS2_uc003ylu.1_Silent_p.P73P|RIMS2_uc003ylv.1_Silent_p.P73P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	760					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATATACCGCGAATACCTG	0.299										HNSCC(12;0.0054)			A	104930678	G	A	104930678	2	1	225	1	0	0	0	0	0	0	0	1	13368	1074	38	1		1	RIMS2	8	104930678	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	45518085	104930678	41433344	53	114379											
PAPPA	5069	broad.mit.edu	37	chr9	118950303	118950303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtgaccccgagtgcaAccacacgctgacgggccacg	12	15	0	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr9:118950303A>G	uc004bjn.2	+	2	1667	c.1286A>G	c.(1285-1287)AAC>AGC	p.N429S	PAPPA_uc011lxp.1_Missense_Mutation_p.N222S|PAPPA_uc011lxq.1_Missense_Mutation_p.N222S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	429	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CCCGAGTGCAACCACACGCTG	0.627													G	118950303	A	G	118950303	3	3	225	1	0	0	0	0	1	0	0	0	11432	43	2	3	1292	3	PAPPA	9	118950303	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08		118950303	22263128	54	114380											
AKR1C1	1645	broad.mit.edu	37	chr10	5008119	5008119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggttcctaaaagtaAagctttagaggccaccaaat	7	12	0	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:5008119A>C	uc001iho.2	+	7	939	c.98A>C	c.(97-99)AAA>ACA	p.K33T	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Missense_Mutation_p.K33T|AKR1C1_uc009xhx.2_Missense_Mutation_p.K33T|AKR1C1_uc001ihq.2_Missense_Mutation_p.K33T	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	33					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	CCTAAAAGTAAAGCTTTAGAG	0.443													C	5008119	A	C	5008119	3	2	225	1	0	0	0	0	1	0	0	0	469	14	1	5	104	5	AKR1C1	10	5008119	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08		5008119	130526628	55	114381											
RPP38	10557	broad.mit.edu	37	chr10	15146039	15146039	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagatctgtcaaaaccTaagagaaagcttgctgacgg	10	7	2	4			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:15146039T>G	uc001iny.3	+	3	1439	c.726T>G	c.(724-726)CCT>CCG	p.P242P	RPP38_uc009xjm.2_Silent_p.P242P|RPP38_uc001inx.3_Silent_p.P242P	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	242					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						TGTCAAAACCTAAGAGAAAGC	0.403													G	15146039	T	G	15146039	2	3	225	1	0	0	0	0	0	0	0	1	13613	1509	53	5		5	RPP38	10	15146039	Silent	SNP	T	TCGA-D7-8579-01A-11D-2340-08	10137920	15146039	120388708	56	114382											
PLXDC2	84898	broad.mit.edu	37	chr10	20465942	20465942	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctagatgttcgaagaagaAcaatttatgaataccaccga	7	7	1	4			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:20465942A>C	uc001iqg.1	+	8	1535	c.898A>C	c.(898-900)ACA>CCA	p.T300P	PLXDC2_uc001iqh.1_Missense_Mutation_p.T251P|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	300	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						TCGAAGAAGAACAATTTATGA	0.323													C	20465942	A	C	20465942	3	2	225	1	0	0	0	0	1	0	0	0	12118	43	2	5	928	5	PLXDC2	10	20465942	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	5319903	20465942	115068805	57	114383											
MYO3A	53904	broad.mit.edu	37	chr10	26462823	26462823	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaccttgtagggccagaAgtaagccccaaacagaagtc	9	11	1	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:26462823A>C	uc001isn.2	+	30	3990	c.3630A>C	c.(3628-3630)GAA>GAC	p.E1210D	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1210					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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TAGGGCCAGAAGTAAGCCCCA	0.413													C	26462823	A	C	26462823	3	2	225	1	0	0	0	0	1	0	0	0	10076	69	3	5	3740	5	MYO3A	10	26462823	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	5996881	26462823	109071924	58	114384											
ZEB1	6935	broad.mit.edu	37	chr10	31810825	31810825	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acggtcagccctgcagtccaAgaaccacccttgaaagtgat	9	13	1	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:31810825A>C	uc001ivs.3	+	7	2625	c.2562A>C	c.(2560-2562)CAA>CAC	p.Q854H	ZEB1_uc001ivr.3_Missense_Mutation_p.Q636H|ZEB1_uc010qee.1_Missense_Mutation_p.Q636H|ZEB1_uc010qef.1_Missense_Mutation_p.Q636H|ZEB1_uc009xlj.1_Missense_Mutation_p.Q780H|ZEB1_uc010qeg.1_Missense_Mutation_p.Q713H|ZEB1_uc009xlk.1_Missense_Mutation_p.Q636H|ZEB1_uc001ivt.3_Missense_Mutation_p.Q636H|ZEB1_uc001ivu.3_Missense_Mutation_p.Q855H|ZEB1_uc001ivv.3_Missense_Mutation_p.Q834H|ZEB1_uc010qeh.1_Missense_Mutation_p.Q787H|ZEB1_uc009xlo.1_Missense_Mutation_p.Q837H|ZEB1_uc009xlp.2_Missense_Mutation_p.Q838H	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	854					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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CTGCAGTCCAAGAACCACCCT	0.438													C	31810825	A	C	31810825	3	2	225	1	0	0	0	0	1	0	0	0	17620	69	3	5	2602	5	ZEB1	10	31810825	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	5348002	31810825	103723922	59	114385											
SLIT1	6585	broad.mit.edu	37	chr10	98773796	98773796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatactgcagggggcacTggcaggtgtagttgcccaca	13	12	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:98773796T>C	uc001kmw.2	-	29	3341	c.3089A>G	c.(3088-3090)CAG>CGG	p.Q1030R		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1030	EGF-like 3.				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			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGGGGGCACTGGCAGGTGTA	0.602													C	98773796	T	C	98773796	3	2	225	1	0	0	0	0	1	0	0	0	14739	1580	55	3	1551	3	SLIT1	10	98773796	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	66962971	98773796	36760951	60	114386											
SEC31B	25956	broad.mit.edu	37	chr10	102257863	102257863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgtacccccagcctgggCcaggataatggcatcagcaa	10	13	2	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:102257863C>A	uc001krc.1	-	15	1888	c.1786G>T	c.(1786-1788)GCC>TCC	p.A596S	SEC31B_uc010qpo.1_Missense_Mutation_p.A595S|SEC31B_uc001krd.1_Missense_Mutation_p.A133S|SEC31B_uc001krf.1_Missense_Mutation_p.A133S|SEC31B_uc001kre.1_Missense_Mutation_p.A133S|SEC31B_uc001krg.1_Missense_Mutation_p.A165S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	596					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCAGCCTGGGCCAGGATAATG	0.552													A	102257863	C	A	102257863	3	1	225	1	0	0	0	0	1	0	0	0	13999	739	26	5	1801	5	SEC31B	10	102257863	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	3484067	102257863	33276884	61	114387											
C10orf118	55088	broad.mit.edu	37	chr10	115910947	115910947	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatctctggaagctttaacTtctttattaagttcttctat	5	7	4	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:115910947T>G	uc001lbb.1	-	4	1444	c.792A>C	c.(790-792)GAA>GAC	p.E264D	C10orf118_uc001lbc.1_Missense_Mutation_p.E264D|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	264	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AAGCTTTAACTTCTTTATTAA	0.328													G	115910947	T	G	115910947	3	3	225	1	0	0	0	0	1	0	0	0	1587	1606	56	5	1956	5	C10orf118	10	115910947	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	13653084	115910947	19623800	62	114388											
PRLHR	2834	broad.mit.edu	37	chr10	120354492	120354492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcacgttgtgcagccggcGcacccgcgcgatcaccagca	12	17	2	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr10:120354492G>A	uc001ldp.1	-	2	404	c.265C>T	c.(265-267)CGC>TGC	p.R89C		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	89	Cytoplasmic (Potential).			R -> P (in Ref. 1; AAC50504).	female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		TGCAGCCGGCGCACCCGCGCG	0.652													A	120354492	G	A	120354492	3	1	225	1	0	0	0	0	1	0	0	0	12530	1087	38	1	851	1	PRLHR	10	120354492	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	4443545	120354492	15180255	63	114389											
TRIM5	85363	broad.mit.edu	37	chr11	5700392	5700392	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatctccagagctgcctggAgcttcacctgtgagaaagga	12	11	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:5700392A>T	uc001mbm.1	-	3	682	c.425T>A	c.(424-426)CTC>CAC	p.L142H	TRIM5_uc001mbq.1_Missense_Mutation_p.L142H|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.L142H|TRIM5_uc001mbo.2_Missense_Mutation_p.L142H|TRIM5_uc001mbp.2_Missense_Mutation_p.L142H	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	142	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		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)		AGCTGCCTGGAGCTTCACCTG	0.453													T	5700392	A	T	5700392	3	4	225	1	0	0	0	0	1	0	0	0	16522	304	11	5	1319	5	TRIM5	11	5700392	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08		5700392	129306124	64	114390											
RAG2	5897	broad.mit.edu	37	chr11	36614484	36614484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtaatccagtagcctgtcTcagactcatcttcttcatca	5	12	6	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:36614484T>C	uc001mwv.3	-	2	1423	c.1235A>G	c.(1234-1236)GAG>GGG	p.E412G	RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	412					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			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				GTAGCCTGTCTCAGACTCATC	0.403									Familial_Hemophagocytic_Lymphohistiocytosis				C	36614484	T	C	36614484	3	2	225	1	0	0	0	0	1	0	0	0	13005	1551	54	3	352	3	RAG2	11	36614484	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	30914092	36614484	98392032	65	114391											
OR4C12	283093	broad.mit.edu	37	chr11	50003180	50003180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacctcagcatttctgagTgtgtagaccacgggatttaa	9	8	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:50003180T>C	uc010ria.1	-	1	858	c.858A>G	c.(856-858)ACA>ACG	p.T286T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CATTTCTGAGTGTGTAGACCA	0.388													C	50003180	T	C	50003180	2	2	225	1	0	0	0	0	0	0	0	1	11046	1683	59	3		3	OR4C12	11	50003180	Silent	SNP	T	TCGA-D7-8579-01A-11D-2340-08	13388696	50003180	85003336	66	114392											
OR5L2	26338	broad.mit.edu	37	chr11	55595336	55595336	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgttaccatcatgatcatCctcacctcctacctgctaat	4	14	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:55595336C>A	uc001nhy.1	+	1	642	c.642C>A	c.(640-642)ATC>ATA	p.I214I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				TCATGATCATCCTCACCTCCT	0.502										HNSCC(27;0.073)			A	55595336	C	A	55595336	2	1	225	1	0	0	0	0	0	0	0	1	11171	845	30	5		5	OR5L2	11	55595336	Silent	SNP	C	TCGA-D7-8579-01A-11D-2340-08	5592156	55595336	79411180	67	114393											
OR10AG1	282770	broad.mit.edu	37	chr11	55735873	55735873	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcaaatacataagtaAaaatatactaaaaagcatcc	3	7	2	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:55735873A>C	uc010rit.1	-	1	67	c.67T>G	c.(67-69)TTA>GTA	p.L23V		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	23	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					TACATAAGTAAAAATATACTA	0.323													C	55735873	A	C	55735873	3	2	225	1	0	0	0	0	1	0	0	0	10897	11	1	5	841	5	OR10AG1	11	55735873	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	140537	55735873	79270643	68	114394											
OR5M8	219484	broad.mit.edu	37	chr11	56258416	56258416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catacacataaggcaccgtgAtgaggaaggagcacacactc	10	11	0	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:56258416A>G	uc001nix.1	-	1	431	c.431T>C	c.(430-432)ATC>ACC	p.I144T		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					AGGCACCGTGATGAGGAAGGA	0.512													G	56258416	A	G	56258416	3	3	225	1	0	0	0	0	1	0	0	0	11176	333	12	3	508	3	OR5M8	11	56258416	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	522543	56258416	78748100	69	114395											
SLC43A3	29015	broad.mit.edu	37	chr11	57193027	57193027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttacatggctatgaggcGtgccacggtggtcttgaacc	13	10	1	2	rs140882001		TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:57193027G>A	uc001nkg.2	-	4	711	c.301C>T	c.(301-303)CGC>TGC	p.R101C	PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkh.2_Missense_Mutation_p.R101C|SLC43A3_uc010rjr.1_Missense_Mutation_p.R114C|SLC43A3_uc009yme.2_Missense_Mutation_p.R101C|SLC43A3_uc001nki.2_Missense_Mutation_p.R101C|SLC43A3_uc009ymf.1_Missense_Mutation_p.R101C|SLC43A3_uc010rjs.1_Missense_Mutation_p.R101C|SLC43A3_uc009ymg.1_Missense_Mutation_p.R114C	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	101					transmembrane transport	integral to membrane				central_nervous_system(1)	1						GCTATGAGGCGTGCCACGGTG	0.527													A	57193027	G	A	57193027	3	1	225	1	0	0	0	0	1	0	0	0	14634	1145	40	1	1218	1	SLC43A3	11	57193027	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	934611	57193027	77813489	70	114396											
ARHGEF17	9828	broad.mit.edu	37	chr11	73022184	73022184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagtgaccccagccgccGtggggagctggctgggcctg	17	14	0	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:73022184G>A	uc001otu.2	+	1	2522	c.2501G>A	c.(2500-2502)CGT>CAT	p.R834H		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	834					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				0						CCCAGCCGCCGTGGGGAGCTG	0.642													A	73022184	G	A	73022184	3	1	225	1	0	0	0	0	1	0	0	0	900	1145	40	1	2503	1	ARHGEF17	11	73022184	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	15829157	73022184	61984332	71	114397											
GRM5	2915	broad.mit.edu	37	chr11	88241767	88241767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccagggacattcacaacGacgaggagctctgagtgtaa	11	9	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr11:88241767G>A	uc001pcq.2	-	9	3832	c.3632C>T	c.(3631-3633)TCG>TTG	p.S1211L	GRM5_uc009yvm.2_Missense_Mutation_p.S1179L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	1211	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CATTCACAACGACGAGGAGCT	0.577													A	88241767	G	A	88241767	3	1	225	1	0	0	0	0	1	0	0	0	6800	1059	37	1	10	1	GRM5	11	88241767	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	15219583	88241767	46764749	72	114398											
A2ML1	144568	broad.mit.edu	37	chr12	9020616	9020616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgtccctggaatgtacaCgttggaggcctcaggccagg	13	11	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:9020616C>T	uc001quz.3	+	30	3994	c.3896C>T	c.(3895-3897)ACG>ATG	p.T1299M	A2ML1_uc001qva.1_Missense_Mutation_p.T879M|A2ML1_uc010sgm.1_Missense_Mutation_p.T799M|A2ML1_uc001qvb.1_RNA	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1143						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GGAATGTACACGTTGGAGGCC	0.493													T	9020616	C	T	9020616	3	4	225	1	0	0	0	0	1	0	0	0	5	536	19	1	4014	1	A2ML1	12	9020616	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08		9020616	124831279	73	114399											
C12orf63	374467	broad.mit.edu	37	chr12	97158901	97158901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacttattggaaagaagaAtactagaatgcataaagtta	7	4	0	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:97158901A>C	uc001tet.1	+	27	3539	c.3461A>C	c.(3460-3462)AAT>ACT	p.N1154T		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1154										skin(6)|ovary(1)	7						GGAAAGAAGAATACTAGAATG	0.318													C	97158901	A	C	97158901	3	2	225	1	0	0	0	0	1	0	0	0	1706	101	4	5	3563	5	C12orf63	12	97158901	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	88138285	97158901	36692994	74	114400											
ANO4	121601	broad.mit.edu	37	chr12	101477501	101477501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtattccaagaaagagCggatgaatccaatttctgga	9	8	1	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:101477501C>T	uc010svm.1	+	16	2013	c.1441C>T	c.(1441-1443)CGG>TGG	p.R481W	ANO4_uc001thw.2_Missense_Mutation_p.R446W|ANO4_uc001thx.2_Missense_Mutation_p.R481W|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	481	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CAAGAAAGAGCGGATGAATCC	0.378										HNSCC(74;0.22)			T	101477501	C	T	101477501	3	4	225	1	0	0	0	0	1	0	0	0	699	759	27	1	1390	1	ANO4	12	101477501	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	4318600	101477501	32374394	75	114401											
FBXO21	23014	broad.mit.edu	37	chr12	117593659	117593659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaaaggctggtggtggcCgtgcggcaggctgtggacgt	19	7	0	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:117593659C>T	uc001twk.2	-	11	1672	c.1633G>A	c.(1633-1635)GGC>AGC	p.G545S	FBXO21_uc001twj.2_Missense_Mutation_p.G538S|FBXO21_uc009zwq.2_Missense_Mutation_p.G478S|FBXO21_uc001twl.1_Missense_Mutation_p.G158S	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	545					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGGTGGTGGCCGTGCGGCAGG	0.607											OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	117593659	C	T	117593659	3	4	225	1	0	0	0	0	1	0	0	0	5733	652	23	1	261	1	FBXO21	12	117593659	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	16116158	117593659	16258236	76	114402											
HNF1A	6927	broad.mit.edu	37	chr12	121438928	121438929	+	Frame_Shift_Ins	INS	-	-	T													agcaatggccagagccacctINSgctgccatccaaccacagcg							TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:121438927_121438928C>CT	uc001tzg.3	+	9	1851_1852	c.1828_1829C>CT	c.(1828-1830)ctgfs	p.L610fs	HNF1A_uc010szn.2_Frame_Shift_Ins_p.L617fs|HNF1A_uc021rfa.1_Frame_Shift_Ins_p.L641fs|HNF1A_uc021rfb.1_Frame_Shift_Ins_p.L482fs|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	610					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|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|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)					CCAGAGCCACCTGCTGCCATCC	0.624									Hepatic Adenoma, Familial Clustering of				T	121438929	-	T	121438928	7	5	225	1	0	1	1	0	0	0	0	0	7251	1580	55	0	1867	0	HNF1A	12	121438928	Frame_Shift_Ins	INS	-	TCGA-D7-8579-01A-11D-2340-08	3845269	121438928	12412967	77	114403											
RIMBP2	23504	broad.mit.edu	37	chr12	130884319	130884319	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcacttcttccaagaAgtttgagggcacaaggcctt	10	10	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:130884319A>C	uc001uil.2	-	18	3201	c.3037T>G	c.(3037-3039)TTC>GTC	p.F1013V		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1013	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		TCTTCCAAGAAGTTTGAGGGC	0.463													C	130884319	A	C	130884319	3	2	225	1	0	0	0	0	1	0	0	0	13363	72	3	5	129	5	RIMBP2	12	130884319	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	9445391	130884319	2967576	78	114404											
RIMBP2	23504	broad.mit.edu	37	chr12	130935764	130935764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcagatctgcatcttgcGctaccggatctcgacaggaa	10	12	4	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:130935764G>A	uc001uil.2	-	5	593	c.429C>T	c.(427-429)AGC>AGT	p.S143S	RIMBP2_uc001uim.2_Silent_p.S51S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	143						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		TGCATCTTGCGCTACCGGATC	0.637													A	130935764	G	A	130935764	2	1	225	1	0	0	0	0	0	0	0	1	13363	1078	38	1		1	RIMBP2	12	130935764	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	51445	130935764	2916131	79	114405											
GALNT9	50614	broad.mit.edu	37	chr12	132688116	132688116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatccacacctcggcggcGcgcagggcgttgcgcttggc	14	16	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr12:132688116G>A	uc001ukc.3	-	7	1313	c.1197C>T	c.(1195-1197)CGC>CGT	p.R399R	GALNT9_uc009zyr.2_Silent_p.R173R|GALNT9_uc001ukb.2_Silent_p.R256R|GALNT9_uc001uka.2_Silent_p.R33R	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	399	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	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)		CCTCGGCGGCGCGCAGGGCGT	0.642													A	132688116	G	A	132688116	2	1	225	1	0	0	0	0	0	0	0	1	6220	1074	38	1		1	GALNT9	12	132688116	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	1752352	132688116	1163779	80	114406											
RNF6	6049	broad.mit.edu	37	chr13	26788949	26788949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcagtacctctgcgttctCgttctctatcttgctctaaa	6	12	5	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr13:26788949C>T	uc001uqo.2	-	5	1361	c.1070G>A	c.(1069-1071)CGA>CAA	p.R357Q	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.R357Q|RNF6_uc001uqp.2_Missense_Mutation_p.R357Q|RNF6_uc001uqq.2_Missense_Mutation_p.R357Q|RNF6_uc010tdk.1_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	357	Arg-rich.				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			ovary(1)|skin(1)	2	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)		TCTGCGTTCTCGTTCTCTATC	0.428													T	26788949	C	T	26788949	3	4	225	1	0	0	0	0	1	0	0	0	13498	884	31	1	991	1	RNF6	13	26788949	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08		26788949	88380929	81	114407											
DCLK1	9201	broad.mit.edu	37	chr13	36699995	36699995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcacgttatccgacagagTtcgggtcaaatcagccagca	9	11	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr13:36699995T>G	uc001uvf.2	-	2	513	c.280A>C	c.(280-282)ACT>CCT	p.T94P		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	94	Doublecortin 1.				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			stomach(6)|ovary(2)|skin(1)	9		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)		TCCGACAGAGTTCGGGTCAAA	0.498													G	36699995	T	G	36699995	3	3	225	1	0	0	0	0	1	0	0	0	4291	1725	60	5	1977	5	DCLK1	13	36699995	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	9911046	36699995	78469883	82	114408											
PCDH17	27253	broad.mit.edu	37	chr13	58208321	58208321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttcgagcagaccaaggcTtttgagttcaaggtgcttgc	11	9	1	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr13:58208321T>C	uc001vhq.1	+	1	2533	c.1641T>C	c.(1639-1641)GCT>GCC	p.A547A	PCDH17_uc010aec.1_Silent_p.A547A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	547	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGACCAAGGCTTTTGAGTTCA	0.582													C	58208321	T	C	58208321	2	2	225	1	0	0	0	0	0	0	0	1	11512	1596	56	3		3	PCDH17	13	58208321	Silent	SNP	T	TCGA-D7-8579-01A-11D-2340-08	21508326	58208321	56961557	83	114409											
RNF113B	140432	broad.mit.edu	37	chr13	98828825	98828825	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgttcaatctcccacccGagcttgtaatcggaacggtc	8	15	2	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr13:98828825G>A	uc001vnk.2	-	1	697	c.666C>T	c.(664-666)CTC>CTT	p.L222L	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	222							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTCCCACCCGAGCTTGTAAT	0.532													A	98828825	G	A	98828825	2	1	225	1	0	0	0	0	0	0	0	1	13428	1045	37	1		1	RNF113B	13	98828825	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	40620504	98828825	16341053	84	114410											
NALCN	259232	broad.mit.edu	37	chr13	101756694	101756694	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagtccctgatgacagcAgttggagtgaaaaataagcc	11	9	0	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr13:101756694A>G	uc001vox.1	-	25	3030	c.2841T>C	c.(2839-2841)ACT>ACC	p.T947T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	947	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGATGACAGCAGTTGGAGTGA	0.358													G	101756694	A	G	101756694	2	3	225	1	0	0	0	0	0	0	0	1	10148	175	7	3		3	NALCN	13	101756694	Silent	SNP	A	TCGA-D7-8579-01A-11D-2340-08	2927869	101756694	13413184	85	114411											
MYO16	23026	broad.mit.edu	37	chr13	109704747	109704747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaattccgaggacataAgtctgccctgctcagtaaga	8	10	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr13:109704747A>C	uc001vqt.1	+	25	3032	c.2906A>C	c.(2905-2907)AAG>ACG	p.K969T	MYO16_uc010agk.1_Missense_Mutation_p.K991T|MYO16_uc001vqu.1_Missense_Mutation_p.K769T|MYO16_uc010tjh.1_Missense_Mutation_p.K481T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	969	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			CGAGGACATAAGTCTGCCCTG	0.368													C	109704747	A	C	109704747	3	2	225	1	0	0	0	0	1	0	0	0	10064	72	3	5	3000	5	MYO16	13	109704747	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	7948053	109704747	5465131	86	114412											
LRFN5	145581	broad.mit.edu	37	chr14	42356155	42356155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttgcatttgaatagcaaCagattgactaaaattacaaa	6	6	0	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr14:42356155C>A	uc001wvm.2	+	3	1525	c.327C>A	c.(325-327)AAC>AAA	p.N109K	LRFN5_uc010ana.2_Missense_Mutation_p.N109K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	109	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAATAGCAACAGATTGACTA	0.373										HNSCC(30;0.082)			A	42356155	C	A	42356155	3	1	225	1	0	0	0	0	1	0	0	0	8941	477	17	5	329	5	LRFN5	14	42356155	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08		42356155	64993385	87	114413											
DIO2	1734	broad.mit.edu	37	chr14	80669227	80669227	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcggtcagccacaacTcggcactggggcggcaagga	14	13	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr14:80669227T>G	uc010tvq.1	-	4	1029	c.627A>C	c.(625-627)CGA>CGC	p.R209R	DIO2_uc010tvp.1_Silent_p.R245R|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Silent_p.R209R|DIO2_uc010asy.2_3'UTR	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	209					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)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGCCACAACTCGGCACTGGG	0.527											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	80669227	T	G	80669227	2	3	225	1	0	0	0	0	0	0	0	1	4525	1538	54	5		5	DIO2	14	80669227	Silent	SNP	T	TCGA-D7-8579-01A-11D-2340-08	38313072	80669227	26680313	88	114414											
SERPINA9	327657	broad.mit.edu	37	chr14	94936126	94936126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggacacacagtagaTtggagcacagaggccaacag	15	10	0	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr14:94936126T>C	uc001ydf.2	-	2	267	c.106A>G	c.(106-108)ATC>GTC	p.I36V	SERPINA9_uc001yde.2_Missense_Mutation_p.I36V|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.I36V|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	18					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		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)		ACACAGTAGATTGGAGCACAG	0.512													C	94936126	T	C	94936126	3	2	225	1	0	0	0	0	1	0	0	0	14095	1493	52	3	1217	3	SERPINA9	14	94936126	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	14266899	94936126	12413414	89	114415											
C15orf2	23742	broad.mit.edu	37	chr15	24923084	24923084	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctctacagcatcatcAtccaaacctcccattgaaac	4	15	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr15:24923084A>T	uc001ywo.2	+	1	2544	c.2070A>T	c.(2068-2070)TCA>TCT	p.S690S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	690					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAGCATCATCATCCAAACCTC	0.493													T	24923084	A	T	24923084	2	4	225	1	0	0	0	0	0	0	0	1	1784	204	8	5		5	C15orf2	15	24923084	Silent	SNP	A	TCGA-D7-8579-01A-11D-2340-08		24923084	77608308	90	114416											
SRRM2	23524	broad.mit.edu	37	chr16	2813747	2813747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagatctgatacttcaaGtccagaagtgagacagagtc	9	10	2	5			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr16:2813747G>A	uc002crk.2	+	11	3767	c.3218G>A	c.(3217-3219)AGT>AAT	p.S1073N	SRRM2_uc002crj.1_Missense_Mutation_p.S977N|SRRM2_uc002crl.1_Missense_Mutation_p.S1073N|SRRM2_uc010bsu.1_Missense_Mutation_p.S977N	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1073	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GATACTTCAAGTCCAGAAGTG	0.463													A	2813747	G	A	2813747	3	1	225	1	0	0	0	0	1	0	0	0	15168	1029	36	4	3256	4	SRRM2	16	2813747	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08		2813747	87541006	91	114417											
TAOK2	9344	broad.mit.edu	37	chr16	29996795	29996795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgcccaggccgaggagCggaagttccagcagcacatc	14	13	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr16:29996795C>T	uc002dva.1	+	14	2467	c.1684C>T	c.(1684-1686)CGG>TGG	p.R562W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R562W|TAOK2_uc002dvc.1_Missense_Mutation_p.R562W|TAOK2_uc010bzm.1_Missense_Mutation_p.R569W|TAOK2_uc002dvd.1_Missense_Mutation_p.R389W	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	562					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			ovary(1)	1						GGCCGAGGAGCGGAAGTTCCA	0.632													T	29996795	C	T	29996795	3	4	225	1	0	0	0	0	1	0	0	0	15545	759	27	1	1734	1	TAOK2	16	29996795	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	27183048	29996795	60357958	92	114418											
MNT	4335	broad.mit.edu	37	chr17	2298250	2298250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagcgtgggtgggggcGgctgctggggggccagctga	21	11	0	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr17:2298250G>A	uc002fur.2	-	2	824	c.572C>T	c.(571-573)CCG>CTG	p.P191L		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	191					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			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GGGTGGGGGCGGCTGCTGGGG	0.667													A	2298250	G	A	2298250	3	1	225	1	0	0	0	0	1	0	0	0	9678	1116	39	1	1196	1	MNT	17	2298250	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08		2298250	78896960	93	114419											
OR1A1	8383	broad.mit.edu	37	chr17	3119769	3119769	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccccaatgttaaatccTttcatctacagtctgagaaa	6	10	3	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr17:3119769T>G	uc010vrc.1	+	1	855	c.855T>G	c.(853-855)CCT>CCG	p.P285P		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGTTAAATCCTTTCATCTACA	0.463													G	3119769	T	G	3119769	2	3	225	1	0	0	0	0	0	0	0	1	10949	1596	56	5		5	OR1A1	17	3119769	Silent	SNP	T	TCGA-D7-8579-01A-11D-2340-08	821519	3119769	78075441	94	114420											
MFSD6L	162387	broad.mit.edu	37	chr17	8700939	8700939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctacagccactcccGtaaaagtggcctcggaacaa	9	15	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr17:8700939G>A	uc002glp.1	-	1	1648	c.1500C>T	c.(1498-1500)TAC>TAT	p.Y500Y		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	500	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						AGCCACTCCCGTAAAAGTGGC	0.627													A	8700939	G	A	8700939	2	1	225	1	0	0	0	0	0	0	0	1	9536	1140	40	1		1	MFSD6L	17	8700939	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	5581170	8700939	72494271	95	114421											
CASC3	22794	broad.mit.edu	37	chr17	38323766	38323766	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagggtgtccagggtggtCgagccaaacgctattcatcc	12	12	2	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr17:38323766C>T	uc010cwt.1	+	9	1847	c.1552C>T	c.(1552-1554)CGA>TGA	p.R518*	CASC3_uc002hue.2_Nonsense_Mutation_p.R518*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	518	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CCAGGGTGGTCGAGCCAAACG	0.498													T	38323766	C	T	38323766	4	4	225	1	0	0	0	0	0	1	0	0	2661	876	31	1	1586	1	CASC3	17	38323766	Nonsense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	29622827	38323766	42871444	96	114422											
FAM104A	84923	broad.mit.edu	37	chr17	71223362	71223362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcttttggtctgggggGgaagatggttgtcttcttcg	14	6	4	1	rs145613050		TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr17:71223362G>A	uc002jji.3	-	2	351	c.263C>T	c.(262-264)CCC>CTC	p.P88L	FAM104A_uc002jjj.3_Missense_Mutation_p.P88L	NM_032837	NP_116226	Q969W3	F104A_HUMAN	hypothetical protein LOC84923 isoform 2	88											0			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTCTGGGGGGGAAGATGGTT	0.428													A	71223362	G	A	71223362	3	1	225	1	0	0	0	0	1	0	0	0	5385	1232	43	4	372	4	FAM104A	17	71223362	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	32899596	71223362	9971848	97	114423											
ARMC7	79637	broad.mit.edu	37	chr17	73124926	73124926	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacctgagcccgccgggccgCagctttctcccagagctgac	11	18	1	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr17:73124926C>G	uc002jmw.1	+	3	692	c.390C>G	c.(388-390)CGC>CGG	p.R130R	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	130	ARM 2.						binding			pancreas(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CGCCGGGCCGCAGCTTTCTCC	0.642													G	73124926	C	G	73124926	2	3	225	1	0	0	0	0	0	0	0	1	956	697	25	5		5	ARMC7	17	73124926	Silent	SNP	C	TCGA-D7-8579-01A-11D-2340-08	1901564	73124926	8070284	98	114424											
RNF213	57674	broad.mit.edu	37	chr17	78348265	78348265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtattccaggggctgcGgcaggaccacccaggccaga	13	14	1	1	rs61743307	byFrequency	TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr17:78348265G>A	uc002jyh.1	+	25	7392	c.7169G>A	c.(7168-7170)CGG>CAG	p.R2390Q	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R772Q	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGGGGCTGCGGCAGGACCAC	0.547													A	78348265	G	A	78348265	3	1	225	1	0	0	0	0	1	0	0	0	13477	1116	39	1	13463	1	RNF213	17	78348265	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	5223339	78348265	2846945	99	114425											
LAMA1	284217	broad.mit.edu	37	chr18	6958572	6958572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattcccccgacgtacAgattggacacatttatcgtc	8	12	0	1	rs140908333		TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr18:6958572A>G	uc002knm.2	-	55	7962	c.7868T>C	c.(7867-7869)CTG>CCG	p.L2623P	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.L76P|LAMA1_uc010wzj.1_Missense_Mutation_p.L2099P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2623	Laminin G-like 3.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGACGTACAGATTGGACAC	0.433													G	6958572	A	G	6958572	3	3	225	1	0	0	0	0	1	0	0	0	8605	188	7	3	1395	3	LAMA1	18	6958572	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08		6958572	71118676	100	114426											
SYT4	6860	broad.mit.edu	37	chr18	40851687	40851687	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcattcttacctgaaagtccGgacacatcagatttaggcag	9	10	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr18:40851687G>C	uc002law.2	-	3	1329	c.960C>G	c.(958-960)TCC>TCG	p.S320S	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.S302S|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	320	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						CTGAAAGTCCGGACACATCAG	0.418													C	40851687	G	C	40851687	2	2	225	1	0	0	0	0	0	0	0	1	15473	1103	39	5		5	SYT4	18	40851687	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	33893115	40851687	37225561	101	114427											
ZSWIM4	65249	broad.mit.edu	37	chr19	13936482	13936482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaccccggtcagcgccccAccagacaccacgctgctggg	11	20	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr19:13936482A>G	uc002mxh.1	+	11	2172	c.1983A>G	c.(1981-1983)CCA>CCG	p.P661P	ZSWIM4_uc010xng.1_Silent_p.P584P	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	661							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCAGCGCCCCACCAGACACCA	0.672													G	13936482	A	G	13936482	2	3	225	1	0	0	0	0	0	0	0	1	18240	146	6	3		3	ZSWIM4	19	13936482	Silent	SNP	A	TCGA-D7-8579-01A-11D-2340-08		13936482	45192501	102	114428											
ZNF675	171392	broad.mit.edu	37	chr19	23836911	23836911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctgtatgaattatcTtatgtgtagtaaggtgtgag	10	5	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr19:23836911T>G	uc002nri.2	-	4	1006	c.824A>C	c.(823-825)AAG>ACG	p.K275T		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	275	C2H2-type 5.				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			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATGAATTATCTTATGTGTAGT	0.348													G	23836911	T	G	23836911	3	3	225	1	0	0	0	0	1	0	0	0	18079	1609	56	5	886	5	ZNF675	19	23836911	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	9900429	23836911	35292072	103	114429											
GRAMD1A	57655	broad.mit.edu	37	chr19	35502408	35502408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctttggggcccgtgacCgctgcttcctcctcatcttc	8	17	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr19:35502408C>T	uc010xse.1	+	7	693	c.556C>T	c.(556-558)CGC>TGC	p.R186C	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R273C|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R179C|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Missense_Mutation_p.R191C|GRAMD1A_uc002nxm.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	186						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCCCGTGACCGCTGCTTCCT	0.622													T	35502408	C	T	35502408	3	4	225	1	0	0	0	0	1	0	0	0	6747	652	23	1	582	1	GRAMD1A	19	35502408	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	11665497	35502408	23626575	104	114430											
ZNF667	63934	broad.mit.edu	37	chr19	56954050	56954050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtttctggcagatgcttTgcccagatttgttgcattga	10	8	1	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr19:56954050T>C	uc002qnd.2	-	5	476	c.314A>G	c.(313-315)CAA>CGA	p.Q105R	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.Q105R|ZNF667_uc010etm.2_Missense_Mutation_p.Q48R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCAGATGCTTTGCCCAGATTT	0.398													C	56954050	T	C	56954050	3	2	225	1	0	0	0	0	1	0	0	0	18071	1812	63	3	1522	3	ZNF667	19	56954050	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	21451642	56954050	2174933	105	114431											
ZNF274	10782	broad.mit.edu	37	chr19	58723899	58723899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctagaaaacgattgcGcaaacgtgactcacaagtta	7	11	1	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr19:58723899G>A	uc002qrq.1	+	10	1811	c.1352G>A	c.(1351-1353)CGC>CAC	p.R451H	ZNF274_uc002qrr.1_Missense_Mutation_p.R419H|ZNF274_uc002qrs.1_Missense_Mutation_p.R346H|ZNF274_uc010eum.1_Missense_Mutation_p.R210H	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	451					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		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													A	58723899	G	A	58723899	3	1	225	1	0	0	0	0	1	0	0	0	17806	1087	38	1	1377	1	ZNF274	19	58723899	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	1769849	58723899	405084	106	114432											
CLDN17	26285	broad.mit.edu	37	chr21	31538305	31538305	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actaagcattgtcgtatttcTtcgcttatctgtgtgtggca	9	8	2	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr21:31538305T>G	uc011acv.1	-	1	631	c.631A>C	c.(631-633)AGA>CGA	p.R211R		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	211	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GTCGTATTTCTTCGCTTATCT	0.458													G	31538305	T	G	31538305	2	3	225	1	0	0	0	0	0	0	0	1	3478	1617	56	5		5	CLDN17	21	31538305	Silent	SNP	T	TCGA-D7-8579-01A-11D-2340-08		31538305	16591590	107	114433											
MTP18	51537	broad.mit.edu	37	chr22	30823179	30823179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagccctgaagcaggcCgcagcgccagggtgactgtg	15	14	0	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr22:30823179C>T	uc003ahw.1	+	3	365	c.217C>T	c.(217-219)CGC>TGC	p.R73C	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.R235C|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Intron	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a	73					apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						TGAAGCAGGCCGCAGCGCCAG	0.632													T	30823179	C	T	30823179	3	4	225	1	0	0	0	0	1	0	0	0	9955	652	23	1	227	1	MTP18	22	30823179	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08		30823179	20481387	108	114434											
SYN3	8224	broad.mit.edu	37	chr22	33265093	33265093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctggcggaccaggatgaAgtctggcttgaaggatctgc	15	8	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chr22:33265093A>G	uc003amx.2	-	4	640	c.481T>C	c.(481-483)TTC>CTC	p.F161L	SYN3_uc003amy.2_Missense_Mutation_p.F161L|SYN3_uc003amz.2_Missense_Mutation_p.F160L	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	161	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1						ACCAGGATGAAGTCTGGCTTG	0.582													G	33265093	A	G	33265093	3	3	225	1	0	0	0	0	1	0	0	0	15439	72	3	3	1301	3	SYN3	22	33265093	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	2441914	33265093	18039473	109	114435											
P2RY8	286530	broad.mit.edu	37	chrX	1584751	1584751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggccaggcccaccgcgCgcctccgctgctcccggccg	13	23	0	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:1584751C>T	uc004cpz.2	-	2	949	c.701G>A	c.(700-702)CGC>CAC	p.R234H		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	234	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		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								T	1584751	C	T	1584751	3	4	225	1	0	0	0	0	1	0	0	0	11355	768	27	1	382	1	P2RY8	23	1584751	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08		1584751	153685809	110	114436											
FANCB	2187	broad.mit.edu	37	chrX	14863287	14863287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctatttcacatggcatcaAgtatggtgctgggaaaggat	11	7	2	0	rs144205393	by1000genomes	TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:14863287A>C	uc004cwg.1	-	8	1886	c.1618T>G	c.(1618-1620)TTG>GTG	p.L540V	FANCB_uc004cwh.1_Missense_Mutation_p.L540V	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	540					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					CATGGCATCAAGTATGGTGCT	0.408								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	14863287	A	C	14863287	3	2	225	1	0	0	0	0	1	0	0	0	5663	69	3	5	973	5	FANCB	23	14863287	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	13278536	14863287	140407273	111	114437											
FAM47C	442444	broad.mit.edu	37	chrX	37027957	37027957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctccgcccagagcctcccGacactggagtgtcccatctc	8	18	2	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:37027957G>A	uc004ddl.1	+	1	1488	c.1474G>A	c.(1474-1476)GAC>AAC	p.D492N		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	492										ovary(3)	3						AGAGCCTCCCGACACTGGAGT	0.622													A	37027957	G	A	37027957	3	1	225	1	0	0	0	0	1	0	0	0	5571	1058	37	1	1476	1	FAM47C	23	37027957	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	22164670	37027957	118242603	112	114438											
USP9X	8239	broad.mit.edu	37	chrX	41002634	41002634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagttagagaagattcttCgttttgtcatcaaagaaaaa	7	4	3	3			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:41002634C>T	uc004dfb.2	+	10	1885	c.1252C>T	c.(1252-1254)CGT>TGT	p.R418C	USP9X_uc004dfc.2_Missense_Mutation_p.R418C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	418					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			lung(3)|breast(2)|ovary(1)	6						GAAGATTCTTCGTTTTGTCAT	0.348													T	41002634	C	T	41002634	3	4	225	1	0	0	0	0	1	0	0	0	17087	884	31	1	1286	1	USP9X	23	41002634	Missense_Mutation	SNP	C	TCGA-D7-8579-01A-11D-2340-08	3974677	41002634	114267926	113	114439											
ITM2A	9452	broad.mit.edu	37	chrX	78618190	78618190	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaagcagtcattcccTgttaggtaggggaaaaaagt	12	7	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:78618190T>A	uc004edh.2	-	4	777	c.442_splice	c.e4-1	p.G148_splice	ITM2A_uc011mqr.1_Splice_Site_p.G104_splice	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A							integral to membrane	protein binding			lung(2)	2						AGTCATTCCCTGTTAGGTAGG	0.413													A	78618190	T	A	78618190	5	1	225	1	0	0	0	0	0	0	1	0	7912	1594	55	5	363	5	ITM2A	23	78618190	Splice_Site	SNP	T	TCGA-D7-8579-01A-11D-2340-08	37615556	78618190	76652370	114	114440											
CYLC1	1538	broad.mit.edu	37	chrX	83128538	83128538	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactcacagaataattcaaaGaattattctttgaagtatac	4	6	3	3	rs148140928		TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:83128538G>T	uc004eei.1	+	4	843	c.822G>T	c.(820-822)AAG>AAT	p.K274N	CYLC1_uc004eeh.1_Missense_Mutation_p.K273N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	274					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ATAATTCAAAGAATTATTCTT	0.318													T	83128538	G	T	83128538	3	4	225	1	0	0	0	0	1	0	0	0	4141	933	33	5	836	5	CYLC1	23	83128538	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	4510348	83128538	72142022	115	114441											
H2BFWT	158983	broad.mit.edu	37	chrX	103267793	103267793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcttgcccatctgccccGgcagcagcaggcgcacagcc	12	18	1	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:103267793G>A	uc004elr.2	-	1	464	c.440C>T	c.(439-441)CCG>CTG	p.P147L		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	147					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						CATCTGCCCCGGCAGCAGCAG	0.687													A	103267793	G	A	103267793	3	1	225	1	0	0	0	0	1	0	0	0	6932	1116	39	1	95	1	H2BFWT	23	103267793	Missense_Mutation	SNP	G	TCGA-D7-8579-01A-11D-2340-08	20139255	103267793	52002767	116	114442											
WDR44	54521	broad.mit.edu	37	chrX	117577561	117577561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttagtggttcagaagataAgtatgtttatatctggagta	11	3	2	2			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:117577561A>C	uc004eqn.2	+	18	2848	c.2423A>C	c.(2422-2424)AAG>ACG	p.K808T	WDR44_uc004eqo.2_Missense_Mutation_p.K800T|WDR44_uc011mtr.1_Missense_Mutation_p.K719T|WDR44_uc010nqi.2_Missense_Mutation_p.K518T	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	808	WD 6.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TCAGAAGATAAGTATGTTTAT	0.358													C	117577561	A	C	117577561	3	2	225	1	0	0	0	0	1	0	0	0	17293	72	3	5	2493	5	WDR44	23	117577561	Missense_Mutation	SNP	A	TCGA-D7-8579-01A-11D-2340-08	14309768	117577561	37692999	117	114443											
KIAA1210	57481	broad.mit.edu	37	chrX	118222914	118222914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgggaggcagagtcTtggcataaacatctcctttg	12	9	3	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:118222914T>G	uc004era.3	-	11	2279	c.2279A>C	c.(2278-2280)AAG>ACG	p.K760T		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	760										ovary(4)|skin(1)	5						AGGCAGAGTCTTGGCATAAAC	0.453													G	118222914	T	G	118222914	3	3	225	1	0	0	0	0	1	0	0	0	8214	1609	56	5	2866	5	KIAA1210	23	118222914	Missense_Mutation	SNP	T	TCGA-D7-8579-01A-11D-2340-08	645353	118222914	37047646	118	114444											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298618	125298618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagcagtgggtgtagagCgcattggggaactctcccat	14	8	1	1			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:125298618C>T	uc004euk.1	-	1	1317	c.1290G>A	c.(1288-1290)GCG>GCA	p.A430A		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGGTGTAGAGCGCATTGGGGA	0.597													T	125298618	C	T	125298618	2	4	225	1	0	0	0	0	0	0	0	1	4265	755	27	1		1	DCAF12L2	23	125298618	Silent	SNP	C	TCGA-D7-8579-01A-11D-2340-08	7075704	125298618	29971942	119	114445											
GAB3	139716	broad.mit.edu	37	chrX	153924213	153924213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcgatgtagctttcttcGtcttctctggaaacaggatt	8	8	3	0			TCGA-D7-8579-01A-11D-2340-08	TCGA-D7-8579-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ec246de-8531-4ab1-8733-ae43cc85a8e6	34c5e3bc-b572-4b6e-9780-722172d7adc5	g.chrX:153924213G>A	uc004fmj.1	-	8	1554	c.1506C>T	c.(1504-1506)GAC>GAT	p.D502D	GAB3_uc004fmk.1_Silent_p.D503D|GAB3_uc010nve.1_Silent_p.D503D|GAB3_uc004fml.1_Silent_p.D122D	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	502										ovary(1)	1	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)					AGCTTTCTTCGTCTTCTCTGG	0.348													A	153924213	G	A	153924213	2	1	225	1	0	0	0	0	0	0	0	1	6150	1136	40	1		1	GAB3	23	153924213	Silent	SNP	G	TCGA-D7-8579-01A-11D-2340-08	28625595	153924213	1346347	120	114446											
NADK	65220	broad.mit.edu	37	chr1	1696699	1696699	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccccagggcgggcgaGgcagacaggctgcgagactt	17	12	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:1696699G>C	uc009vkw.2	-	2	268	c.147C>G	c.(145-147)GCC>GCG	p.A49A	NADK_uc001aic.2_Silent_p.A49A|NADK_uc001aid.3_Silent_p.A49A|NADK_uc001aie.2_Silent_p.A49A|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	49					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	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)		GGGCGGGCGAGGCAGACAGGC	0.567													C	1696699	G	C	1696699	2	2	226	1	0	0	0	0	0	0	0	1	10137	987	35	5		5	NADK	1	1696699	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		1696699	247553922	1	114447											
C1orf127	148345	broad.mit.edu	37	chr1	11008300	11008300	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccccctccctggggagaCcaggccctgtctggcgtggc	15	16	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:11008300C>G	uc010oao.1	-	8	1450	c.1445G>C	c.(1444-1446)GGT>GCT	p.G482A	C1orf127_uc001arr.1_Missense_Mutation_p.G464A|C1orf127_uc001ars.1_Missense_Mutation_p.G456A	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	482										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGGGGAGACCAGGCCCTGT	0.642													G	11008300	C	G	11008300	3	3	226	1	0	0	0	0	1	0	0	0	1994	507	18	5	583	5	C1orf127	1	11008300	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	9311601	11008300	238242321	2	114448											
FBXO44	93611	broad.mit.edu	37	chr1	11721234	11721234	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcgtccgctacatctgGtttcagcacggcggcgtgga	14	14	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:11721234G>A	uc001asm.2	+	6	798	c.672G>A	c.(670-672)TGG>TGA	p.W224*	FBXO44_uc001ask.2_Missense_Mutation_p.V183I|FBXO44_uc001asl.2_Nonsense_Mutation_p.W224*|FBXO44_uc001asn.2_Missense_Mutation_p.V183I|FBXO44_uc010oar.1_Missense_Mutation_p.V215I|FBXO44_uc010oas.1_Nonsense_Mutation_p.W84*|FBXO6_uc001aso.2_5'Flank	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	224	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	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)		GCTACATCTGGTTTCAGCACG	0.627													A	11721234	G	A	11721234	4	1	226	1	0	0	0	0	0	1	0	0	5753	1270	44	4	690	4	FBXO44	1	11721234	Nonsense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	712934	11721234	237529387	3	114449											
NECAP2	55707	broad.mit.edu	37	chr1	16775642	16775642	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaacccagaccaaggCcctaaactggacctgggctt	10	15	0	2	rs143289277	byFrequency	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:16775642C>A	uc001ayo.2	+	5	525	c.435C>A	c.(433-435)GGC>GGA	p.G145G	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Silent_p.G119G|NECAP2_uc001ayq.2_Silent_p.G145G	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	145					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		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)		CAGACCAAGGCCCTAAACTGG	0.532													A	16775642	C	A	16775642	2	1	226	1	0	0	0	0	0	0	0	1	10308	726	26	5		5	NECAP2	1	16775642	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	5054408	16775642	232474979	4	114450											
PLA2G2E	30814	broad.mit.edu	37	chr1	20249208	20249208	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcctgtcatcttctcgatCatcaccccaaactgaaccag	5	15	5	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:20249208C>A	uc001bct.1	-	2	139	c.81G>T	c.(79-81)ATG>ATT	p.M27I		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	27					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		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;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|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)		TCTTCTCGATCATCACCCCAA	0.527													A	20249208	C	A	20249208	3	1	226	1	0	0	0	0	1	0	0	0	11998	826	29	5	359	5	PLA2G2E	1	20249208	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3473566	20249208	229001413	5	114451											
PINK1	65018	broad.mit.edu	37	chr1	20964478	20964478	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagccaccatgcctacAttgccccagaacctggaggt	9	13	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:20964478A>G	uc001bdm.2	+	2	625	c.531A>G	c.(529-531)ACA>ACG	p.T177T		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	177	Protein kinase.|Cytoplasmic (Potential).				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			ovary(2)|central_nervous_system(1)	3		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)		CCATGCCTACATTGCCCCAGA	0.602													G	20964478	A	G	20964478	2	3	226	1	0	0	0	0	0	0	0	1	11932	204	8	3		3	PINK1	1	20964478	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	715270	20964478	228286143	6	114452											
LAPTM5	7805	broad.mit.edu	37	chr1	31214496	31214496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccctcaccttgactacGccgatcagtaggctcaggct	10	14	3	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:31214496G>A	uc001bsc.2	-	3	340	c.249C>T	c.(247-249)GGC>GGT	p.G83G		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	83	Helical; (Potential).				transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGACTACGCCGATCAGTA	0.607													A	31214496	G	A	31214496	2	1	226	1	0	0	0	0	0	0	0	1	8626	1074	38	1		1	LAPTM5	1	31214496	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	10250018	31214496	218036125	7	114453											
CSMD2	114784	broad.mit.edu	37	chr1	34238273	34238273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactcaaacttgagtgtGtcaccgtggtgaaaccggga	13	9	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:34238273G>A	uc001bxn.1	-	13	1652	c.1623C>T	c.(1621-1623)GAC>GAT	p.D541D	CSMD2_uc001bxm.1_Silent_p.D581D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	541	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTTGAGTGTGTCACCGTGGT	0.557													A	34238273	G	A	34238273	2	1	226	1	0	0	0	0	0	0	0	1	3945	1368	48	4		4	CSMD2	1	34238273	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3023777	34238273	215012348	8	114454											
CSF3R	1441	broad.mit.edu	37	chr1	36938265	36938265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggggtccatggtccgCagcatggggggctccagttt	18	10	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:36938265C>T	uc001caw.1	-	7	874	c.696G>A	c.(694-696)CTG>CTA	p.L232L	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Silent_p.L232L|CSF3R_uc001cax.1_Silent_p.L232L|CSF3R_uc001cay.1_Silent_p.L232L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	232	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCATGGTCCGCAGCATGGGGG	0.627													T	36938265	C	T	36938265	2	4	226	1	0	0	0	0	0	0	0	1	3937	697	25	2		2	CSF3R	1	36938265	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2699992	36938265	212312356	9	114455											
EPHA10	284656	broad.mit.edu	37	chr1	38197083	38197083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcacacacactacttacCctcccccagggtctgtactt	4	18	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:38197083C>T	uc009vvi.2	-	7	1749	c.1663G>A	c.(1663-1665)GCT>ACT	p.A555T	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	555	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTACTTACCCTCCCCCAGG	0.577													T	38197083	C	T	38197083	3	4	226	1	0	0	0	0	1	0	0	0	5166	637	22	4	1407	4	EPHA10	1	38197083	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1258818	38197083	211053538	10	114456											
MACF1	23499	broad.mit.edu	37	chr1	39801326	39801342	+	Frame_Shift_Del	DEL	AAGTGAAAAAGGGAAAG	AAGTGAAAAAGGGAAAG	-													caacctagggaaatgacctcAagtgaaaaagggaaagaagc							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:39801325_39801341CAAGTGAAAAAGGGAAAG>C	uc021olw.1	+	0	4385_4401	c.4385_4401CAAGTGAAAAAGGGAAAG>C	c.(4384-4401)tcaagtgaaaaagggaaafs	p.S1462fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3027					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.K1465K(2)		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)			GAAATGACCTCAAGTGAAAAAGGGAAAGAAGCTGATA	0.373													-	39801342	AAGTGAAAAAGGGAAAG	-	39801326	7	5	226	1	0	1	0	1	0	0	0	0	9144	117	5	0	9157	0	MACF1	1	39801326	Frame_Shift_Del	DEL	AAGTGAAAAAGGGAAAG	TCGA-D7-A4YT-01A-11D-A25D-08	1604243	39801326	209449295	11	114457											
COL9A2	1298	broad.mit.edu	37	chr1	40768858	40768858	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagtggcatcccggccCtgaaagcagaggcctttcag	13	12	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:40768858C>G	uc001cfh.1	-	29	1619	c.1549_splice	c.e29-1	p.G517_splice	COL9A2_uc001cfi.1_Splice_Site_p.G336_splice	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor						axon guidance|skeletal system development	collagen type IX				ovary(2)	2	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)			CATCCCGGCCCTGAAAGCAGA	0.627													G	40768858	C	G	40768858	5	3	226	1	0	0	0	0	0	0	1	0	3708	695	24	5	537	5	COL9A2	1	40768858	Splice_Site	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	967532	40768858	208481763	12	114458											
COL9A2	1298	broad.mit.edu	37	chr1	40770188	40770188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgccccactggacccctcTcgccttggtcaccctgaaat	8	17	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:40770188T>C	uc001cfh.1	-	23	1245	c.1175A>G	c.(1174-1176)GAG>GGG	p.E392G	COL9A2_uc001cfi.1_Missense_Mutation_p.E211G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	392	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	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)			TGGACCCCTCTCGCCTTGGTC	0.617													C	40770188	T	C	40770188	3	2	226	1	0	0	0	0	1	0	0	0	3708	1551	54	3	934	3	COL9A2	1	40770188	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	1330	40770188	208480433	13	114459											
C1orf87	127795	broad.mit.edu	37	chr1	60456444	60456444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttctgagggctcagggaCaggttgtaaatgagattgta	13	4	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:60456444C>T	uc001czs.1	-	12	1634	c.1542G>A	c.(1540-1542)CTG>CTA	p.L514L	C1orf87_uc001czr.1_Silent_p.L106L	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	514							calcium ion binding			ovary(1)|breast(1)	2						GGCTCAGGGACAGGTTGTAAA	0.483													T	60456444	C	T	60456444	2	4	226	1	0	0	0	0	0	0	0	1	2064	465	17	4		4	C1orf87	1	60456444	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	19686256	60456444	188794177	14	114460											
DNAJC6	9829	broad.mit.edu	37	chr1	65858259	65858259	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcatggagtcaagaagccCagcaaaaagcagcaggagcc	11	12	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:65858259C>A	uc001dcd.1	+	12	1607	c.1443C>A	c.(1441-1443)CCC>CCA	p.P481P	DNAJC6_uc001dcc.1_Silent_p.P512P|DNAJC6_uc010opc.1_Silent_p.P468P|DNAJC6_uc001dce.1_Silent_p.P538P	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	481	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						TCAAGAAGCCCAGCAAAAAGC	0.532													A	65858259	C	A	65858259	2	1	226	1	0	0	0	0	0	0	0	1	4653	581	21	5		5	DNAJC6	1	65858259	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	5401815	65858259	183392362	15	114461											
AKNAD1	254268	broad.mit.edu	37	chr1	109395133	109395133	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agccttctcttgagggtcatCtgctatgaaaataatttgat	8	7	3	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:109395133C>G	uc001dwa.2	-	2	423	c.154G>C	c.(154-156)GAT>CAT	p.D52H	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	52										ovary(3)	3						TGAGGGTCATCTGCTATGAAA	0.383													G	109395133	C	G	109395133	3	3	226	1	0	0	0	0	1	0	0	0	464	913	32	5	2416	5	AKNAD1	1	109395133	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	43536874	109395133	139855488	16	114462											
SYT6	148281	broad.mit.edu	37	chr1	114641809	114641809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcattgtagacaggattgAgagtgtttttctttatggtt	10	5	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:114641809A>C	uc001eev.2	-	5	1266	c.1016T>G	c.(1015-1017)CTC>CGC	p.L339R	SYT6_uc001eeu.2_5'UTR	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	424	Cytoplasmic (Potential).|C2 2.				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)		GACAGGATTGAGAGTGTTTTT	0.463													C	114641809	A	C	114641809	3	2	226	1	0	0	0	0	1	0	0	0	15475	304	11	5	273	5	SYT6	1	114641809	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	5246676	114641809	134608812	17	114463											
PRUNE	58497	broad.mit.edu	37	chr1	151006687	151006687	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcactgtcacagtctaccAcagcctccctgtccaagaag	6	16	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:151006687A>C	uc001ewh.1	+	8	1475	c.1339A>C	c.(1339-1341)ACA>CCA	p.T447P	PRUNE_uc001ewi.1_Missense_Mutation_p.T265P|PRUNE_uc010pco.1_Missense_Mutation_p.T215P|PRUNE_uc001ewj.1_Missense_Mutation_p.T162P|PRUNE_uc001ewk.1_Missense_Mutation_p.T212P|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	447						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	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)			ACAGTCTACCACAGCCTCCCT	0.522													C	151006687	A	C	151006687	3	2	226	1	0	0	0	0	1	0	0	0	12640	159	6	5	1369	5	PRUNE	1	151006687	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	36364878	151006687	98243934	18	114464											
CDC42SE1	56882	broad.mit.edu	37	chr1	151026763	151026763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccatggcctatctcggtttCccttggatctcatctgctcc	7	15	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:151026763C>A	uc001ewo.2	-	5	770	c.200G>T	c.(199-201)GGA>GTA	p.G67V	CDC42SE1_uc001ewp.2_Missense_Mutation_p.G67V	NM_001038707	NP_001033796	Q9NRR8	C42S1_HUMAN	CDC42 small effector 1	67					phagocytosis|regulation of cell shape|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase inhibitor activity				0	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)			ATCTCGGTTTCCCTTGGATCT	0.448													A	151026763	C	A	151026763	3	1	226	1	0	0	0	0	1	0	0	0	3079	855	30	5	43	5	CDC42SE1	1	151026763	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	20076	151026763	98223858	19	114465											
RFX5	5993	broad.mit.edu	37	chr1	151314729	151314729	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagcacatgctcctttAagtctttattaccctgtggt	7	9	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:151314729A>T	uc001exv.1	-	11	1998	c.1784T>A	c.(1783-1785)TTA>TAA	p.L595*	RFX5_uc001exw.1_Nonsense_Mutation_p.L595*|RFX5_uc009wmr.1_Nonsense_Mutation_p.L595*|RFX5_uc010pcx.1_Nonsense_Mutation_p.L555*	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	595						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)			ATGCTCCTTTAAGTCTTTATT	0.473													T	151314729	A	T	151314729	4	4	226	1	0	0	0	0	0	1	0	0	13266	372	13	5	70	5	RFX5	1	151314729	Nonsense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	287966	151314729	97935892	20	114466											
SNX27	81609	broad.mit.edu	37	chr1	151634671	151634671	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtgtgtccgacgtagagctGagagtagcattaccagatgg	15	7	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:151634671G>C	uc001eyn.1	+	5	847	c.831G>C	c.(829-831)CTG>CTC	p.L277L	SNX27_uc001eyo.2_Silent_p.L184L|SNX27_uc001eyp.2_Silent_p.L91L	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	277	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACGTAGAGCTGAGAGTAGCAT	0.403													C	151634671	G	C	151634671	2	2	226	1	0	0	0	0	0	0	0	1	14897	1277	45	5		5	SNX27	1	151634671	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	319942	151634671	97615950	21	114467											
TCHHL1	126637	broad.mit.edu	37	chr1	152059360	152059360	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtctttgtgttgcttcTtttggtggtgaactttgggt	13	5	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:152059360T>C	uc001ezo.1	-	3	863	c.798A>G	c.(796-798)AAA>AAG	p.K266K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	266							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCTTCTTTTGGTGGTG	0.428													C	152059360	T	C	152059360	2	2	226	1	0	0	0	0	0	0	0	1	15698	1606	56	3		3	TCHHL1	1	152059360	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	424689	152059360	97191261	22	114468											
TCHH	7062	broad.mit.edu	37	chr1	152086500	152086500	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctccatcacaatcatgagaGacatactgattgaaaatttc	6	9	2	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:152086500G>A	uc001ezp.2	-	1	57	c.57C>T	c.(55-57)GTC>GTT	p.V19V	TCHH_uc009wne.1_Silent_p.V19V	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	19	S-100-like.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATCATGAGAGACATACTGAT	0.368													A	152086500	G	A	152086500	2	1	226	1	0	0	0	0	0	0	0	1	15697	929	33	4		4	TCHH	1	152086500	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	27140	152086500	97164121	23	114469											
KPRP	448834	broad.mit.edu	37	chr1	152733487	152733487	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacccagagccttgtccaCgaccagagccaattcccctg	8	17	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:152733487C>T	uc001fal.1	+	2	1481	c.1423C>T	c.(1423-1425)CGA>TGA	p.R475*		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	475	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTTGTCCACGACCAGAGCC	0.672													T	152733487	C	T	152733487	4	4	226	1	0	0	0	0	0	1	0	0	8436	528	19	1	1425	1	KPRP	1	152733487	Nonsense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	646987	152733487	96517134	24	114470											
RUSC1	23623	broad.mit.edu	37	chr1	155297948	155297948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcttttaggagaccaTctagctggctgcccccgaca	8	15	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:155297948T>C	uc001fkj.2	+	9	2651	c.2422T>C	c.(2422-2424)TCT>CCT	p.S808P	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S702P|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.S339P|RUSC1_uc001fkl.2_Missense_Mutation_p.S398P|RUSC1_uc001fkp.2_Missense_Mutation_p.S339P|RUSC1_uc001fkq.2_Missense_Mutation_p.S233P|RUSC1_uc010pgb.1_Missense_Mutation_p.S306P|RUSC1_uc009wqp.1_Missense_Mutation_p.S333P|RUSC1_uc001fkn.2_Missense_Mutation_p.S117P|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.S339P|RUSC1_uc001fks.2_Intron	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	808						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	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)			TAGGAGACCATCTAGCTGGCT	0.587													C	155297948	T	C	155297948	3	2	226	1	0	0	0	0	1	0	0	0	13750	1435	50	3	2583	3	RUSC1	1	155297948	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	2564461	155297948	93952673	25	114471											
OR10K2	391107	broad.mit.edu	37	chr1	158390537	158390537	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgatgattgcattggtGcccagagtgaacaggtagag	14	5	0	5			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:158390537G>T	uc010pii.1	-	1	120	c.120C>A	c.(118-120)GGC>GGA	p.G40G		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TTGCATTGGTGCCCAGAGTGA	0.517													T	158390537	G	T	158390537	2	4	226	1	0	0	0	0	0	0	0	1	10914	1306	46	5		5	OR10K2	1	158390537	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3092589	158390537	90860084	26	114472											
OR6K2	81448	broad.mit.edu	37	chr1	158669861	158669861	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccactacctgaatcatgacGatggctcgtgtgtctgtgca	10	11	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:158669861G>A	uc001fsu.1	-	1	582	c.582C>T	c.(580-582)ATC>ATT	p.I194I		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GAATCATGACGATGGCTCGTG	0.468													A	158669861	G	A	158669861	2	1	226	1	0	0	0	0	0	0	0	1	11202	1048	37	1		1	OR6K2	1	158669861	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	279324	158669861	90580760	27	114473											
MNDA	4332	broad.mit.edu	37	chr1	158813857	158813857	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacatctgcagctgtggatcAtcccccactaccccagacct	6	18	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:158813857A>T	uc001fsz.1	+	4	715	c.515A>T	c.(514-516)CAT>CTT	p.H172L		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	172					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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GCTGTGGATCATCCCCCACTA	0.498													T	158813857	A	T	158813857	3	4	226	1	0	0	0	0	1	0	0	0	9676	217	8	5	525	5	MNDA	1	158813857	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	143996	158813857	90436764	28	114474											
LY9	4063	broad.mit.edu	37	chr1	160786398	160786398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacaggcaggctgaggaagCccaaaatcacgtggagcctc	12	12	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:160786398C>G	uc001fwu.2	+	5	1137	c.1087C>G	c.(1087-1089)CCC>GCC	p.P363A	LY9_uc001fwv.2_Missense_Mutation_p.P363A|LY9_uc001fww.2_Intron|LY9_uc001fwx.2_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.2_Missense_Mutation_p.P15A	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	363	Extracellular (Potential).|Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGAGGAAGCCCAAAATCAC	0.542													G	160786398	C	G	160786398	3	3	226	1	0	0	0	0	1	0	0	0	9101	739	26	5	1237	5	LY9	1	160786398	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1972541	160786398	88464223	29	114475											
RGS4	5999	broad.mit.edu	37	chr1	163044202	163044202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcccagaagaagatttTcaacctgatggagaaggatt	12	6	1	6			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:163044202T>C	uc009wuy.2	+	5	981	c.470T>C	c.(469-471)TTC>TCC	p.F157S	RGS4_uc001gcl.3_Missense_Mutation_p.F254S|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Missense_Mutation_p.F139S	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	157	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						AAGAAGATTTTCAACCTGATG	0.507													C	163044202	T	C	163044202	3	2	226	1	0	0	0	0	1	0	0	0	13307	1783	62	3	783	3	RGS4	1	163044202	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	2257804	163044202	86206419	30	114476											
POGK	57645	broad.mit.edu	37	chr1	166818400	166818400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtttcagttcagccgggGcatgcgccgcagttacgacg	14	11	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:166818400G>T	uc001gdt.1	+	5	704	c.584G>T	c.(583-585)GGC>GTC	p.G195V	POGK_uc010ple.1_Missense_Mutation_p.G110V|POGK_uc010plf.1_Missense_Mutation_p.G77V	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	195					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TTCAGCCGGGGCATGCGCCGC	0.557													T	166818400	G	T	166818400	3	4	226	1	0	0	0	0	1	0	0	0	12185	1203	42	5	598	5	POGK	1	166818400	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3774198	166818400	82432221	31	114477											
SELP	6403	broad.mit.edu	37	chr1	169559386	169559386	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttatagggatcttaccTtaaggactcgggtcaaatgc	9	8	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:169559386T>G	uc001ggi.3	-	16	2558	c.2493A>C	c.(2491-2493)TAA>TAC	p.*831Y	SELP_uc001ggh.2_Nonstop_Mutation_p.*626Y|SELP_uc009wvr.2_Nonstop_Mutation_p.*830Y	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	831					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGATCTTACCTTAAGGACTCG	0.333													G	169559386	T	G	169559386	4	3	226	1	0	0	0	0	0	0	0	0	14019	1623	56	5	3	5	SELP	1	169559386	Nonstop_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	2740986	169559386	79691235	32	114478											
SELP	6403	broad.mit.edu	37	chr1	169559420	169559420	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatgcagcgtttgtaaaaActccatatgttcctaggtgg	9	8	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:169559420A>C	uc001ggi.3	-	16	2524	c.2459T>G	c.(2458-2460)GTT>GGT	p.V820G	SELP_uc001ggh.2_Missense_Mutation_p.V615G|SELP_uc009wvr.2_Missense_Mutation_p.V819G	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	820	Endocytosis signal (Probable).|Cytoplasmic (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTTTGTAAAAACTCCATATGT	0.373													C	169559420	A	C	169559420	3	2	226	1	0	0	0	0	1	0	0	0	14019	43	2	5	37	5	SELP	1	169559420	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	34	169559420	79691201	33	114479											
BAT2L2	23215	broad.mit.edu	37	chr1	171484978	171484978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgacaactatggacctgGacccagtttacgtccaccaa	8	12	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:171484978G>A	uc010pmg.1	+	5	766	c.500G>A	c.(499-501)GGA>GAA	p.G167E	BAT2L2_uc001ghq.1_Missense_Mutation_p.G164E|BAT2L2_uc001ghr.1_Missense_Mutation_p.G169E	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	167							protein C-terminus binding				0						TATGGACCTGGACCCAGTTTA	0.403													A	171484978	G	A	171484978	3	1	226	1	0	0	0	0	1	0	0	0	1321	1174	41	4	514	4	BAT2L2	1	171484978	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1925558	171484978	77765643	34	114480											
LGR6	59352	broad.mit.edu	37	chr1	202287851	202287851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctgtcacgcccgaggCcgtcaagtctgtcctgctgg	11	16	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:202287851C>A	uc001gxu.2	+	18	2420	c.2420C>A	c.(2419-2421)GCC>GAC	p.A807D	LGR6_uc001gxv.2_Missense_Mutation_p.A755D|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.A668D	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	807	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						ACGCCCGAGGCCGTCAAGTCT	0.647													A	202287851	C	A	202287851	3	1	226	1	0	0	0	0	1	0	0	0	8758	739	26	5	2637	5	LGR6	1	202287851	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	30802873	202287851	46962770	35	114481											
DSTYK	25778	broad.mit.edu	37	chr1	205156872	205156872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcagtatgcaagggaggcAgtccacaatctgctggaggt	14	8	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:205156872A>C	uc001hbw.2	-	2	392	c.328T>G	c.(328-330)TGC>GGC	p.C110G	DSTYK_uc001hbx.2_Missense_Mutation_p.C110G	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	110						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CAAGGGAGGCAGTCCACAATC	0.468													C	205156872	A	C	205156872	3	2	226	1	0	0	0	0	1	0	0	0	4785	188	7	5	2509	5	DSTYK	1	205156872	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	2869021	205156872	44093749	36	114482											
DTL	51514	broad.mit.edu	37	chr1	212238293	212238293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtgaatcaaatcagtggAgctcacaatacctcagacaa	7	10	4	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:212238293A>G	uc009xdc.2	+	7	875	c.561A>G	c.(559-561)GGA>GGG	p.G187G	DTL_uc010ptb.1_Silent_p.G145G|DTL_uc001hiz.3_5'UTR	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	187					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAATCAGTGGAGCTCACAATA	0.368													G	212238293	A	G	212238293	2	3	226	1	0	0	0	0	0	0	0	1	4787	291	11	3		3	DTL	1	212238293	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	7081421	212238293	37012328	37	114483											
CABC1	56997	broad.mit.edu	37	chr1	227174341	227174341	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcacaggaagatggggggctCcttcctcatctgctccaagc	12	13	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:227174341C>G	uc001hqm.1	+	20	5266	c.1847C>G	c.(1846-1848)TCC>TGC	p.S616C	CABC1_uc001hqn.1_Missense_Mutation_p.S616C|CABC1_uc009xeq.1_Missense_Mutation_p.S564C|CABC1_uc010pvq.1_Missense_Mutation_p.S337C|CABC1_uc010pvr.1_Missense_Mutation_p.S290C|CABC1_uc001hqo.1_Missense_Mutation_p.S337C|CABC1_uc009xer.1_Missense_Mutation_p.S132C	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	616					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				ATGGGGGGCTCCTTCCTCATC	0.612													G	227174341	C	G	227174341	3	3	226	1	0	0	0	0	1	0	0	0	2527	855	30	5	1901	5	CABC1	1	227174341	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	14936048	227174341	22076280	38	114484											
PCNXL2	80003	broad.mit.edu	37	chr1	233136182	233136182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgcgccccgccaggccgGgtcgccctcgtggcagatga	14	17	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:233136182G>T	uc001hvl.2	-	30	5432	c.5197C>A	c.(5197-5199)CCG>ACG	p.P1733T	PCNXL2_uc001hvk.1_Missense_Mutation_p.P385T|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1733						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CGCCAGGCCGGGTCGCCCTCG	0.617													T	233136182	G	T	233136182	3	4	226	1	0	0	0	0	1	0	0	0	11592	1232	43	5	1236	5	PCNXL2	1	233136182	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	5961841	233136182	16114439	39	114485											
MTR	4548	broad.mit.edu	37	chr1	237026804	237026804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttaaaggcgacgtgcaCgacataggcaagaacatagt	11	8	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:237026804C>T	uc001hyi.3	+	22	2778	c.2355C>T	c.(2353-2355)CAC>CAT	p.H785H	MTR_uc010pxw.1_Silent_p.H378H|MTR_uc010pxx.1_Silent_p.H734H|MTR_uc010pxy.1_Silent_p.H639H	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	785	B12-binding.	Cobalt (cobalamin axial ligand) (By similarity).			nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	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)	GCGACGTGCACGACATAGGCA	0.488													T	237026804	C	T	237026804	2	4	226	1	0	0	0	0	0	0	0	1	9958	535	19	1		1	MTR	1	237026804	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3890622	237026804	12223817	40	114486											
C1orf100	200159	broad.mit.edu	37	chr1	244541857	244541857	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactcattcgatatatttgtCttcgaagacattcaaagcct	5	10	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:244541857C>A	uc001iah.2	+	4	354	c.241C>A	c.(241-243)CTT>ATT	p.L81I	C1orf100_uc001iai.2_Intron	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	hypothetical protein LOC200159	81											0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			ATATATTTGTCTTCGAAGACA	0.403													A	244541857	C	A	244541857	3	1	226	1	0	0	0	0	1	0	0	0	1975	913	32	5	251	5	C1orf100	1	244541857	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	7515053	244541857	4708764	41	114487											
CNST	163882	broad.mit.edu	37	chr1	246754949	246754949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagcgtggaaaggagtGtgacctgtctgccttctgca	14	9	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:246754949G>A	uc001ibp.2	+	2	463	c.85G>A	c.(85-87)GTG>ATG	p.V29M	CNST_uc001ibo.3_Missense_Mutation_p.V29M	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	29					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						GGAAAGGAGTGTGACCTGTCT	0.488													A	246754949	G	A	246754949	3	1	226	1	0	0	0	0	1	0	0	0	3634	1377	48	4	87	4	CNST	1	246754949	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	2213092	246754949	2495672	42	114488											
NLRP3	114548	broad.mit.edu	37	chr1	247599290	247599290	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggttggtcagctgctgcctCacatcagcatgttgtcagga	12	10	4	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr1:247599290C>A	uc001icr.2	+	8	2655	c.2517C>A	c.(2515-2517)CTC>CTA	p.L839L	NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Silent_p.L839L|NLRP3_uc001icw.2_Silent_p.L782L|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.L817L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	839	LRR 4.				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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			GCTGCTGCCTCACATCAGCAT	0.542													A	247599290	C	A	247599290	2	1	226	1	0	0	0	0	0	0	0	1	10478	813	29	5		5	NLRP3	1	247599290	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	844341	247599290	1651331	43	114489											
MYT1L	23040	broad.mit.edu	37	chr2	1926074	1926075	+	Frame_Shift_Ins	INS	-	-	T													tacctttaccatagtatggcINStttttgacatggctgtcact							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:1926074_1926075insT	uc002qxe.2	-	10	2293_2294	c.1466_1467insA	c.(1465-1467)AAGfs	p.K489fs	MYT1L_uc002qxd.2_Frame_Shift_Ins_p.K489fs|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	489					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		CATAGTATGGCTTTTTGACATG	0.45													T	1926075	-	T	1926074	7	5	226	1	0	1	1	0	0	0	0	0	10107	796	28	0	2151	0	MYT1L	2	1926074	Frame_Shift_Ins	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08		1926074	241273299	44	114490	540	2									
MYT1L	23040	broad.mit.edu	37	chr2	1926075	1926076	+	Frame_Shift_Ins	INS	-	-	T													acctttaccatagtatggctINSttttgacatggctgtcactg							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:1926074_1926075C>CT	uc002qxe.3	-	9	2293_2294	c.1466_1467G>AG	c.(1465-1467)aagfs	p.K489fs	MYT1L_uc002qxd.3_Frame_Shift_Ins_p.K489fs|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	489					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)		CATAGTATGGCTTTTTGACATG	0.45													T	1926076	-	T	1926075	7	5	226	1	0	1	1	0	0	0	0	0	10107	1609	56	0	2152	0	MYT1L	2	1926075	Frame_Shift_Ins	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08	1	1926075	241273298	45	114491	540	2									
OTOF	9381	broad.mit.edu	37	chr2	26699838	26699838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagagcaggtccttggagGgcacacgggcataggcgaca	16	9	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:26699838G>A	uc002rhk.2	-	22	2724	c.2597C>T	c.(2596-2598)CCC>CTC	p.P866L	OTOF_uc002rhh.2_Missense_Mutation_p.P119L|OTOF_uc002rhi.2_Missense_Mutation_p.P176L|OTOF_uc002rhj.2_Missense_Mutation_p.P119L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	866	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTTGGAGGGCACACGGGC	0.612													A	26699838	G	A	26699838	3	1	226	1	0	0	0	0	1	0	0	0	11303	1232	43	4	3681	4	OTOF	2	26699838	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	24773763	26699838	216499535	46	114492											
KIAA1841	84542	broad.mit.edu	37	chr2	61310371	61310371	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaactgtattaatgcaaAtcttctcacacgtatagctg	6	9	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:61310371A>C	uc002saw.3	+	8	1115	c.812A>C	c.(811-813)AAT>ACT	p.N271T	KIAA1841_uc002sax.3_Missense_Mutation_p.N125T|KIAA1841_uc002say.2_Missense_Mutation_p.N271T|KIAA1841_uc002sav.3_Missense_Mutation_p.N271T	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	271											0			Epithelial(17;0.193)			ATTAATGCAAATCTTCTCACA	0.299													C	61310371	A	C	61310371	3	2	226	1	0	0	0	0	1	0	0	0	8261	101	4	5	834	5	KIAA1841	2	61310371	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	34610533	61310371	181889002	47	114493											
VPS54	51542	broad.mit.edu	37	chr2	64144060	64144060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcatactgttgtccctcGacaataagaacttcagctgg	8	11	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:64144060G>A	uc002scq.2	-	16	2365	c.2202C>T	c.(2200-2202)GTC>GTT	p.V734V	VPS54_uc002scp.2_Silent_p.V722V|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Silent_p.V219V|VPS54_uc010fct.2_Silent_p.V581V	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	734					protein transport|retrograde transport, endosome to Golgi						0						GTTGTCCCTCGACAATAAGAA	0.388													A	64144060	G	A	64144060	2	1	226	1	0	0	0	0	0	0	0	1	17213	1045	37	1		1	VPS54	2	64144060	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	2833689	64144060	179055313	48	114494											
ZNF638	27332	broad.mit.edu	37	chr2	71653954	71653954	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatgaattaattgaccaagAtgattgcatttcccacagtg	8	7	0	5			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:71653954A>T	uc002shx.2	+	24	5274	c.4955A>T	c.(4954-4956)GAT>GTT	p.D1652V	ZNF638_uc002shy.2_Missense_Mutation_p.D1652V|ZNF638_uc002shz.2_Missense_Mutation_p.D1652V|ZNF638_uc002sia.2_Missense_Mutation_p.D1652V|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.D749V|ZNF638_uc002sid.2_Missense_Mutation_p.D21V	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1652					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						ATTGACCAAGATGATTGCATT	0.353													T	71653954	A	T	71653954	3	4	226	1	0	0	0	0	1	0	0	0	18052	333	12	5	5045	5	ZNF638	2	71653954	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	7509894	71653954	171545419	49	114495											
DYSF	8291	broad.mit.edu	37	chr2	71747335	71747335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaccatttacagagagCcccgtgagttctcaccactt	9	13	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:71747335C>A	uc002sie.2	+	10	1310	c.934C>A	c.(934-936)CCC>ACC	p.P312T	DYSF_uc010feg.2_Missense_Mutation_p.P343T|DYSF_uc010feh.2_Missense_Mutation_p.P312T|DYSF_uc002sig.3_Missense_Mutation_p.P312T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P312T|DYSF_uc010fef.2_Missense_Mutation_p.P343T|DYSF_uc010fei.2_Missense_Mutation_p.P343T|DYSF_uc010fek.2_Missense_Mutation_p.P344T|DYSF_uc010fej.2_Missense_Mutation_p.P313T|DYSF_uc010fel.2_Missense_Mutation_p.P313T|DYSF_uc010feo.2_Missense_Mutation_p.P344T|DYSF_uc010fem.2_Missense_Mutation_p.P313T|DYSF_uc010fen.2_Missense_Mutation_p.P344T|DYSF_uc002sif.2_Missense_Mutation_p.P313T	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	312	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TTACAGAGAGCCCCGTGAGTT	0.458													A	71747335	C	A	71747335	3	1	226	1	0	0	0	0	1	0	0	0	4859	739	26	5	1164	5	DYSF	2	71747335	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	93381	71747335	171452038	50	114496											
DYSF	8291	broad.mit.edu	37	chr2	71883377	71883377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctgtaccggggcaagaCgcaggaggagacagaagatc	15	9	0	4	rs144422408		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:71883377C>T	uc002sie.2	+	42	4971	c.4595C>T	c.(4594-4596)ACG>ATG	p.T1532M	DYSF_uc010feg.2_Missense_Mutation_p.T1563M|DYSF_uc010feh.2_Missense_Mutation_p.T1539M|DYSF_uc002sig.3_Missense_Mutation_p.T1518M|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T1553M|DYSF_uc010fef.2_Missense_Mutation_p.T1570M|DYSF_uc010fei.2_Missense_Mutation_p.T1549M|DYSF_uc010fek.2_Missense_Mutation_p.T1550M|DYSF_uc010fej.2_Missense_Mutation_p.T1540M|DYSF_uc010fel.2_Missense_Mutation_p.T1519M|DYSF_uc010feo.2_Missense_Mutation_p.T1564M|DYSF_uc010fem.2_Missense_Mutation_p.T1554M|DYSF_uc010fen.2_Missense_Mutation_p.T1571M|DYSF_uc002sif.2_Missense_Mutation_p.T1533M|DYSF_uc010yqy.1_Missense_Mutation_p.T413M|DYSF_uc010yqz.1_Missense_Mutation_p.T293M	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1532	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CGGGGCAAGACGCAGGAGGAG	0.522													T	71883377	C	T	71883377	3	4	226	1	0	0	0	0	1	0	0	0	4859	536	19	1	5020	1	DYSF	2	71883377	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	136042	71883377	171315996	51	114497											
ALMS1	7840	broad.mit.edu	37	chr2	73784420	73784420	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagagattcacagtacAagggcagtgactgaggctgc	13	9	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:73784420A>C	uc002sje.1	+	16	10266	c.10155A>C	c.(10153-10155)ACA>ACC	p.T3385T	ALMS1_uc002sjf.1_Silent_p.T3341T|ALMS1_uc002sjg.2_Silent_p.T2771T|ALMS1_uc002sjh.1_Silent_p.T2771T|ALMS1_uc010fev.1_Silent_p.T143T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3383					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTCACAGTACAAGGGCAGTGA	0.423													C	73784420	A	C	73784420	2	2	226	1	0	0	0	0	0	0	0	1	535	117	5	5		5	ALMS1	2	73784420	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	1901043	73784420	169414953	52	114498											
TCF7L1	83439	broad.mit.edu	37	chr2	85536584	85536584	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaagtctgcccactAagctccccccgacccctgca	7	20	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:85536584A>G	uc002soy.2	+	12	1840	c.1766A>G	c.(1765-1767)TAA>TGA	p.*589*		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	589					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						TCTGCCCACTAAGCTCCCCCC	0.557													G	85536584	A	G	85536584	2	3	226	1	0	0	0	0	0	0	0	1	15694	369	13	3		3	TCF7L1	2	85536584	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	11752164	85536584	157662789	53	114499											
ASTL	431705	broad.mit.edu	37	chr2	96789646	96789646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacagccccctggcagagcTgggcttccctggacagggac	13	15	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:96789646T>C	uc010yui.1	-	9	1239	c.1239A>G	c.(1237-1239)CCA>CCG	p.P413P		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	413					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CTGGCAGAGCTGGGCTTCCCT	0.587													C	96789646	T	C	96789646	2	2	226	1	0	0	0	0	0	0	0	1	1063	1567	55	3		3	ASTL	2	96789646	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	11253062	96789646	146409727	54	114500											
MAP4K4	9448	broad.mit.edu	37	chr2	102476248	102476248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagcagccgccaccaccGcagcaggaaaggagcaagcc	12	16	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:102476248G>A	uc002tbg.2	+	15	1681	c.1626G>A	c.(1624-1626)CCG>CCA	p.P542P	MAP4K4_uc002tbc.2_Silent_p.P542P|MAP4K4_uc002tbd.2_Silent_p.P511P|MAP4K4_uc002tbe.2_Silent_p.P511P|MAP4K4_uc002tbf.2_Silent_p.P511P|MAP4K4_uc010yvy.1_Silent_p.P511P|MAP4K4_uc002tbh.2_Silent_p.P511P|MAP4K4_uc002tbi.2_Silent_p.P395P|MAP4K4_uc010yvz.1_Silent_p.P491P|MAP4K4_uc002tbk.2_Silent_p.P51P|MAP4K4_uc002tbj.1_Silent_p.P407P	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	542					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			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CGCCACCACCGCAGCAGGAAA	0.592													A	102476248	G	A	102476248	2	1	226	1	0	0	0	0	0	0	0	1	9262	1074	38	1		1	MAP4K4	2	102476248	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	5686602	102476248	140723125	55	114501											
CCDC74B	91409	broad.mit.edu	37	chr2	130897829	130897829	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaagtgtggtgggctttcGcaggggaaggggcaggatca	18	7	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:130897829G>A	uc002tqm.1	-	5	861	c.799C>T	c.(799-801)CGA>TGA	p.R267*	CCDC74B_uc010yzw.1_Nonsense_Mutation_p.R369*|CCDC74B_uc002tqn.1_Nonsense_Mutation_p.R201*	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	267											0	Colorectal(110;0.1)					GTGGGCTTTCGCAGGGGAAGG	0.647													A	130897829	G	A	130897829	4	1	226	1	0	0	0	0	0	1	0	0	2848	1095	38	1	359	1	CCDC74B	2	130897829	Nonsense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	28421581	130897829	112301544	56	114502											
LCT	3938	broad.mit.edu	37	chr2	136566925	136566925	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatcagcctgttgtaataatCaaccccatgactgttgatag	8	9	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:136566925C>A	uc002tuu.1	-	8	3003	c.2992G>T	c.(2992-2994)GAT>TAT	p.D998Y		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	998	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGTAATAATCAACCCCATGA	0.507													A	136566925	C	A	136566925	3	1	226	1	0	0	0	0	1	0	0	0	8693	826	29	5	2831	5	LCT	2	136566925	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	5669096	136566925	106632448	57	114503											
KCNJ3	3760	broad.mit.edu	37	chr2	155566194	155566194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtacaggggcagatcAactttttcttgtgtcccccc	8	11	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:155566194A>C	uc002tyv.1	+	2	977	c.782A>C	c.(781-783)CAA>CCA	p.Q261P	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	261	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	GGGGCAGATCAACTTTTTCTT	0.483													C	155566194	A	C	155566194	3	2	226	1	0	0	0	0	1	0	0	0	8052	130	5	5	788	5	KCNJ3	2	155566194	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	18999269	155566194	87633179	58	114504											
SCN3A	6328	broad.mit.edu	37	chr2	166026964	166026964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaaaatcttgatagcaAttttcctaacagggtttagt	7	7	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:166026964A>C	uc002ucx.2	-	4	851	c.359T>G	c.(358-360)ATT>AGT	p.I120S	SCN3A_uc002ucy.2_Missense_Mutation_p.I120S|SCN3A_uc002ucz.2_Missense_Mutation_p.I120S|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	120						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CTTGATAGCAATTTTCCTAAC	0.303													C	166026964	A	C	166026964	3	2	226	1	0	0	0	0	1	0	0	0	13918	101	4	5	5839	5	SCN3A	2	166026964	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	10460770	166026964	77172409	59	114505											
G6PC2	57818	broad.mit.edu	37	chr2	169763222	169763222	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttgattcaaatcagTgtctgcatctccagagtatt	8	7	4	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:169763222T>A	uc002uem.2	+	4	581	c.489T>A	c.(487-489)AGT>AGA	p.S163R	G6PC2_uc002uen.2_Intron|G6PC2_uc010fpv.2_Missense_Mutation_p.S47R	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	islet-specific glucose-6-phosphatase-related	163	Helical; (Potential).				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			pancreas(1)	1						TTCAAATCAGTGTCTGCATCT	0.373													A	169763222	T	A	169763222	3	1	226	1	0	0	0	0	1	0	0	0	6144	1693	59	5	503	5	G6PC2	2	169763222	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	3736258	169763222	73436151	60	114506											
HOXD3	3232	broad.mit.edu	37	chr2	177036786	177036786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgtacgtgggcggcaaCttcgtcgagtccatggcgcc	15	13	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:177036786C>T	uc002ukt.1	+	3	1259	c.1083C>T	c.(1081-1083)AAC>AAT	p.N361N		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	361					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				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGGGCGGCAACTTCGTCGAGT	0.701													T	177036786	C	T	177036786	2	4	226	1	0	0	0	0	0	0	0	1	7323	564	20	4		4	HOXD3	2	177036786	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	7273564	177036786	66162587	61	114507											
TTN	7273	broad.mit.edu	37	chr2	179470142	179470142	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatattcagattccgcaccTtcatcatcttgtatgactac	4	11	4	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:179470142T>A	uc010zfg.1	-	228	46400	c.46176A>T	c.(46174-46176)GAA>GAT	p.E15392D	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E9087D|TTN_uc010zfi.1_Missense_Mutation_p.E9020D|TTN_uc010zfj.1_Missense_Mutation_p.E8895D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16319							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCCGCACCTTCATCATCTT	0.333													A	179470142	T	A	179470142	3	1	226	1	0	0	0	0	1	0	0	0	16732	1623	56	5	54149	5	TTN	2	179470142	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	2433356	179470142	63729231	62	114508											
TTN	7273	broad.mit.edu	37	chr2	179471980	179471980	+	Frame_Shift_Del	DEL	A	A	-													tcttctggatcagaccagttAagtagacacatttttctgtt							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:179471979_179471979TA>T	uc021vsy.1	-	226	45871	c.45646_45646TA>A	c.(45646-45648)aacfs	p.N15216fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.N8911fs|TTN_uc021vta.1_Frame_Shift_Del_p.N8844fs|TTN_uc021vtb.1_Frame_Shift_Del_p.N8719fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16143	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGACCAGTTAAGTAGACAC	0.363													-	179471980	A	-	179471980	7	5	226	1	0	1	0	1	0	0	0	0	16732	349	13	0	54684	0	TTN	2	179471980	Frame_Shift_Del	DEL	A	TCGA-D7-A4YT-01A-11D-A25D-08	1838	179471980	63727393	63	114509											
TTN	7273	broad.mit.edu	37	chr2	179631273	179631273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaatgccatctttatAccagtgggcatcaacatcgt	7	10	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:179631273A>G	uc010zfg.1	-	41	9762	c.9538T>C	c.(9538-9540)TAT>CAT	p.Y3180H	TTN_uc010zfh.1_Missense_Mutation_p.Y3134H|TTN_uc010zfi.1_Missense_Mutation_p.Y3134H|TTN_uc010zfj.1_Missense_Mutation_p.Y3134H|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.Y3180H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3180							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCTTTATACCAGTGGGCA	0.383													G	179631273	A	G	179631273	3	3	226	1	0	0	0	0	1	0	0	0	16732	391	14	3	101738	3	TTN	2	179631273	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	159293	179631273	63568100	64	114510											
TTN	7273	broad.mit.edu	37	chr2	179635333	179635333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacattagggtgtgtaagcTcgacagtgaaaacagcatcc	11	8	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:179635333T>G	uc010zfg.1	-	35	8410	c.8186A>C	c.(8185-8187)GAG>GCG	p.E2729A	TTN_uc010zfh.1_Missense_Mutation_p.E2683A|TTN_uc010zfi.1_Missense_Mutation_p.E2683A|TTN_uc010zfj.1_Missense_Mutation_p.E2683A|TTN_uc002unb.2_Missense_Mutation_p.E2729A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2729							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTGTAAGCTCGACAGTGAA	0.383													G	179635333	T	G	179635333	3	3	226	1	0	0	0	0	1	0	0	0	16732	1551	54	5	103114	5	TTN	2	179635333	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	4060	179635333	63564040	65	114511											
LANCL1	10314	broad.mit.edu	37	chr2	211319933	211319933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaggaaggtgatggagCgcttggttaagcagttcaga	14	6	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:211319933C>T	uc010zjh.1	-	4	380	c.305G>A	c.(304-306)CGC>CAC	p.R102H	LANCL1_uc002ved.2_Missense_Mutation_p.R102H|LANCL1_uc010fuq.2_Missense_Mutation_p.R102H	NM_001136574	NP_001130046	O43813	LANC1_HUMAN	lanthionine synthetase C-like protein 1	102						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGTGATGGAGCGCTTGGTTAA	0.483													T	211319933	C	T	211319933	3	4	226	1	0	0	0	0	1	0	0	0	8620	768	27	1	922	1	LANCL1	2	211319933	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	31684600	211319933	31879440	66	114512											
SPEG	10290	broad.mit.edu	37	chr2	220353257	220353257	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcagagccctcagtgatcatCgtgtcctgcaaagatgggcg	12	11	3	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:220353257C>A	uc010fwg.2	+	33	7896	c.7896C>A	c.(7894-7896)ATC>ATA	p.I2632I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2632	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		CAGTGATCATCGTGTCCTGCA	0.632													A	220353257	C	A	220353257	2	1	226	1	0	0	0	0	0	0	0	1	15035	874	31	5		5	SPEG	2	220353257	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	9033324	220353257	22846116	67	114513											
GIGYF2	26058	broad.mit.edu	37	chr2	233599885	233599885	+	Translation_Start_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtttcttcacatataaaaatCtattgtaaaaatacggaaaa	4	5	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:233599885C>G	uc002vti.3	+	5	315	c.-22C>G	c.(-24--20)ATCTA>ATGTA		GIGYF2_uc002vte.2_RNA|GIGYF2_uc002vtf.2_RNA|GIGYF2_uc010zmj.1_Translation_Start_Site|GIGYF2_uc002vtg.2_Translation_Start_Site|GIGYF2_uc002vtj.3_Translation_Start_Site|GIGYF2_uc002vtk.3_Translation_Start_Site|GIGYF2_uc002vth.3_Translation_Start_Site|GIGYF2_uc002vtl.2_RNA|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b						cell death		protein binding			ovary(4)|central_nervous_system(3)	7		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)		ATATAAAAATCTATTGTAAAA	0.353													G	233599885	C	G	233599885	1	3	226	1	0	0	0	0	0	0	0	0	6378	928	32	5		5	GIGYF2	2	233599885	Translation_Start_Site	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	13246628	233599885	9599488	68	114514											
UGT1A4	54657	broad.mit.edu	37	chr2	234627873	234627873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctactgcataatgaggCcctgatcaggcacctgaatg	12	10	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:234627873C>T	uc002vux.2	+	1	436	c.407C>T	c.(406-408)GCC>GTC	p.A136V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.A136V	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	136					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		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;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	CATAATGAGGCCCTGATCAGG	0.458													T	234627873	C	T	234627873	3	4	226	1	0	0	0	0	1	0	0	0	16944	739	26	2	409	2	UGT1A4	2	234627873	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1027988	234627873	8571500	69	114515											
IQCA1	79781	broad.mit.edu	37	chr2	237247012	237247012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaggtgttttttcaggCgtttaggttcattctgggag	16	4	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:237247012C>T	uc002vvz.1	-	17	2152	c.1970G>A	c.(1969-1971)CGC>CAC	p.R657H	IQCA1_uc002vwb.2_Missense_Mutation_p.R665H|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R616H	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	657							ATP binding			ovary(1)	1						TTTTTTCAGGCGTTTAGGTTC	0.408													T	237247012	C	T	237247012	3	4	226	1	0	0	0	0	1	0	0	0	7802	768	27	1	510	1	IQCA1	2	237247012	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2619139	237247012	5952361	70	114516											
ASB1	51665	broad.mit.edu	37	chr2	239344628	239344628	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgcctctcgcgtgggccgGgcagacatcctgaaggccct	13	16	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:239344628G>T	uc002vyg.2	+	3	554	c.468G>T	c.(466-468)CGG>CGT	p.R156R		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	156	ANK 4.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		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)		GCGTGGGCCGGGCAGACATCC	0.542													T	239344628	G	T	239344628	2	4	226	1	0	0	0	0	0	0	0	1	1013	1219	43	5		5	ASB1	2	239344628	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	2097616	239344628	3854745	71	114517											
HDLBP	3069	broad.mit.edu	37	chr2	242186471	242186472	+	Frame_Shift_Ins	INS	-	-	T													gcagcggacaagttatcaccINStttttaatgtttgcgcctcc							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:242186471_242186472insT	uc002waz.2	-	15	2045_2046	c.1817_1818insA	c.(1816-1818)AAGfs	p.K606fs	HDLBP_uc002wba.2_Frame_Shift_Ins_p.K606fs|HDLBP_uc002wbb.2_Frame_Shift_Ins_p.K558fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	606	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		AAGTTATCACCTTTTTAATGTT	0.401													T	242186472	-	T	242186471	7	5	226	1	0	1	1	0	0	0	0	0	7025	695	24	0	2044	0	HDLBP	2	242186471	Frame_Shift_Ins	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08	2841843	242186471	1012902	72	114518	541	2									
HDLBP	3069	broad.mit.edu	37	chr2	242186472	242186473	+	Splice_Site	INS	-	-	T													cagcggacaagttatcacctINSttttaatgtttgcgcctcct							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr2:242186471_242186472C>CT	uc002waz.3	-	15	1991	c.1818_splice	c.e15+1	p.K606_splice	HDLBP_uc002wba.3_Splice_Site_p.K606_splice|HDLBP_uc021vzg.1_Splice_Site_p.K573_splice	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	606	KH 7.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein 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)		AAGTTATCACCTTTTTAATGTT	0.401													T	242186473	-	T	242186472	8	5	226	1	0	1	1	0	0	0	1	0	7025	1623	56	0	2045	0	HDLBP	2	242186472	Splice_Site	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08	1	242186472	1012901	73	114519	541	2									
LMCD1	29995	broad.mit.edu	37	chr3	8590314	8590314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgacaggcacagagggtGccttttaccgccgccgccag	13	14	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:8590314G>A	uc003bqq.2	+	4	562	c.448G>A	c.(448-450)GCC>ACC	p.A150T	LMCD1_uc011atd.1_Missense_Mutation_p.A77T|LMCD1_uc011ate.1_Missense_Mutation_p.A38T|LMCD1_uc011atf.1_Missense_Mutation_p.A77T	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	150	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CACAGAGGGTGCCTTTTACCG	0.567													A	8590314	G	A	8590314	3	1	226	1	0	0	0	0	1	0	0	0	8844	1319	46	2	462	2	LMCD1	3	8590314	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		8590314	189432116	74	114520											
TTLL3	26140	broad.mit.edu	37	chr3	9859368	9859368	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccggaatttgccgtggtttGatgaggttgatgccaactcc	12	9	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:9859368G>C	uc003btg.2	+	5	571	c.355G>C	c.(355-357)GAT>CAT	p.D119H	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.D119H|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.D55H|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.D55H|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	119					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					GCCGTGGTTTGATGAGGTTGA	0.562													C	9859368	G	C	9859368	3	2	226	1	0	0	0	0	1	0	0	0	16725	1290	45	5	369	5	TTLL3	3	9859368	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1269054	9859368	188163062	75	114521											
IL17RE	132014	broad.mit.edu	37	chr3	9948410	9948410	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctgctgcctcgtcgTcacctgtctgagaagagcca	12	12	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:9948410T>A	uc003btu.2	+	6	504	c.387T>A	c.(385-387)CGT>CGA	p.R129R	CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Silent_p.R129R|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Silent_p.R129R|IL17RE_uc003btx.2_Silent_p.R13R|IL17RE_uc010hcq.2_Silent_p.R129R|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	129	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGCCTCGTCGTCACCTGTCTG	0.418													A	9948410	T	A	9948410	2	1	226	1	0	0	0	0	0	0	0	1	7643	1654	58	5		5	IL17RE	3	9948410	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	89042	9948410	188074020	76	114522											
GRIP2	80852	broad.mit.edu	37	chr3	14545116	14545116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgaccacatgactccagGtcttcgagagcttctccaaa	8	13	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:14545116G>A	uc011avi.1	-	22	2931	c.2931C>T	c.(2929-2931)GAC>GAT	p.D977D	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.D508D	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	879					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						ATGACTCCAGGTCTTCGAGAG	0.622													A	14545116	G	A	14545116	2	1	226	1	0	0	0	0	0	0	0	1	6788	1252	44	4		4	GRIP2	3	14545116	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	4596706	14545116	183477314	77	114523											
TGFBR2	7048	broad.mit.edu	37	chr3	30713543	30713543	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtatgcctcttggaagacaGagaaggacatcttctcagac	10	9	3	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:30713543G>A	uc003ceo.2	+	4	1250	c.868G>A	c.(868-870)GAG>AAG	p.E290K	TGFBR2_uc003cen.2_Missense_Mutation_p.E315K	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	290	Protein kinase.|Cytoplasmic (Potential).				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|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 I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						TTGGAAGACAGAGAAGGACAT	0.483													A	30713543	G	A	30713543	3	1	226	1	0	0	0	0	1	0	0	0	15819	943	33	4	961	4	TGFBR2	3	30713543	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	16168427	30713543	167308887	78	114524											
ATXN7	6314	broad.mit.edu	37	chr3	63968005	63968005	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccctcaataccaaagccaaCcttgccttcacctggacaga	5	17	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:63968005C>A	uc003dlw.3	+	7	1449	c.896C>A	c.(895-897)ACC>AAC	p.T299N	ATXN7_uc003dlv.2_Missense_Mutation_p.T299N|ATXN7_uc010hnv.2_Missense_Mutation_p.T299N|ATXN7_uc011bfn.1_Missense_Mutation_p.T154N	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	299					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				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAAAGCCAACCTTGCCTTCA	0.488													A	63968005	C	A	63968005	3	1	226	1	0	0	0	0	1	0	0	0	1215	507	18	5	982	5	ATXN7	3	63968005	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	33254462	63968005	134054425	79	114525											
GPR128	84873	broad.mit.edu	37	chr3	100362456	100362456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacagactgagcttcagGtcttgcttaatatgacgaaa	9	8	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:100362456G>A	uc003duc.2	+	8	1193	c.925G>A	c.(925-927)GTC>ATC	p.V309I	GPR128_uc011bhc.1_Intron	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	309	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						TGAGCTTCAGGTCTTGCTTAA	0.363													A	100362456	G	A	100362456	3	1	226	1	0	0	0	0	1	0	0	0	6641	1261	44	4	955	4	GPR128	3	100362456	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	36394451	100362456	97659974	80	114526											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133205	119133205	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccggaaagagaagactcatCcaggaaattgaggacagatc	11	9	1	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:119133205C>G	uc003ecj.3	+	12	2961	c.2429C>G	c.(2428-2430)TCC>TGC	p.S810C		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	810					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GAAGACTCATCCAGGAAATTG	0.562													G	119133205	C	G	119133205	3	3	226	1	0	0	0	0	1	0	0	0	880	855	30	5	2475	5	ARHGAP31	3	119133205	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	18770749	119133205	78889225	81	114527											
COL6A6	131873	broad.mit.edu	37	chr3	130279257	130279257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatttgttcccatatttctGtgaaccaagattccggtaag	7	8	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:130279257G>C	uc010htl.2	+	1	80	c.49G>C	c.(49-51)GTG>CTG	p.V17L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	17					axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CCATATTTCTGTGAACCAAGA	0.279													C	130279257	G	C	130279257	3	2	226	1	0	0	0	0	1	0	0	0	3703	1377	48	5	51	5	COL6A6	3	130279257	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	11146052	130279257	67743173	82	114528											
CEP70	80321	broad.mit.edu	37	chr3	138248274	138248274	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtagtcgttttcttcTtctgactgactttcatcttc	5	10	6	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:138248274T>G	uc003esl.2	-	9	921	c.723A>C	c.(721-723)GAA>GAC	p.E241D	CEP70_uc011bmk.1_Missense_Mutation_p.E221D|CEP70_uc011bml.1_Missense_Mutation_p.E223D|CEP70_uc011bmm.1_Missense_Mutation_p.E89D|CEP70_uc003esm.2_Missense_Mutation_p.E241D	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	241					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1						CGTTTTCTTCTTCTGACTGAC	0.294													G	138248274	T	G	138248274	3	3	226	1	0	0	0	0	1	0	0	0	3259	1606	56	5	1110	5	CEP70	3	138248274	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	7969017	138248274	59774156	83	114529											
FOXL2	668	broad.mit.edu	37	chr3	138665218	138665218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcgccgccgccctcgcgcGgcaccttgatgaagcactcg	12	18	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:138665218G>T	uc003esw.2	-	1	765	c.347C>A	c.(346-348)CCG>CAG	p.P116Q	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	116	Fork-head.				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			ovary(266)|large_intestine(1)|skin(1)	268						GCCCTCGCGCGGCACCTTGAT	0.607			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III						T	138665218	G	T	138665218	3	4	226	1	0	0	0	0	1	0	0	0	6017	1116	39	5	787	5	FOXL2	3	138665218	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	416944	138665218	59357212	84	114530											
ATR	545	broad.mit.edu	37	chr3	142188342	142188342	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatatggagctaaatagtttGtatgctctgtgataaccttg	10	5	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:142188342G>C	uc003eux.3	-	38	6511	c.6389C>G	c.(6388-6390)ACA>AGA	p.T2130R	ATR_uc003euy.1_Missense_Mutation_p.T16R	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2130	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			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TAAATAGTTTGTATGCTCTGT	0.348								Other_conserved_DNA_damage_response_genes					C	142188342	G	C	142188342	3	2	226	1	0	0	0	0	1	0	0	0	1204	1377	48	5	1585	5	ATR	3	142188342	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3523124	142188342	55834088	85	114531											
AADACL2	344752	broad.mit.edu	37	chr3	151463297	151463297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttattattctttctttaaagCtataggctggctcctcaaca	5	9	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:151463297C>A	uc003ezc.2	+	4	552	c.432C>A	c.(430-432)GAC>GAA	p.D144E	AADACL2_uc010hvn.2_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	144						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTTTAAAGCTATAGGCTGG	0.343													A	151463297	C	A	151463297	3	1	226	1	0	0	0	0	1	0	0	0	11	811	28	5	446	5	AADACL2	3	151463297	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	9274955	151463297	46559133	86	114532											
USP13	8975	broad.mit.edu	37	chr3	179459996	179459996	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccttcagaggaaccgcatCggctcagaaaacccaagcga	9	13	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:179459996C>T	uc003fkh.2	+	12	1473	c.1392C>T	c.(1390-1392)ATC>ATT	p.I464I	USP13_uc003fkf.2_Silent_p.I464I	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	464					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	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)			GGAACCGCATCGGCTCAGAAA	0.448													T	179459996	C	T	179459996	2	4	226	1	0	0	0	0	0	0	0	1	17041	874	31	1		1	USP13	3	179459996	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	27996699	179459996	18562434	87	114533											
VPS8	23355	broad.mit.edu	37	chr3	184573502	184573502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccatctccctacttagatgGatccttccagtgtgccactg	7	14	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:184573502G>T	uc003fpb.1	+	13	1204	c.1033G>T	c.(1033-1035)GAT>TAT	p.D345Y	VPS8_uc010hyd.1_Missense_Mutation_p.D345Y	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	347							zinc ion binding			ovary(1)	1	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)			TACTTAGATGGATCCTTCCAG	0.348													T	184573502	G	T	184573502	3	4	226	1	0	0	0	0	1	0	0	0	17215	1174	41	5	1085	5	VPS8	3	184573502	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	5113506	184573502	13448928	88	114534											
ATP13A5	344905	broad.mit.edu	37	chr3	193031864	193031864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttctccaccagctgccaGgtcacagaggcaggaacaaa	11	12	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:193031864G>A	uc011bsq.1	-	19	2277	c.2277C>T	c.(2275-2277)ACC>ACT	p.T759T		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	759					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		CCAGCTGCCAGGTCACAGAGG	0.507													A	193031864	G	A	193031864	2	1	226	1	0	0	0	0	0	0	0	1	1127	987	35	4		4	ATP13A5	3	193031864	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	8458362	193031864	4990566	89	114535											
TNK2	10188	broad.mit.edu	37	chr3	195594114	195594114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcactcctctgtggtcaCcccatgcaccatggcctgca	9	17	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr3:195594114C>T	uc003fvu.1	-	13	3451	c.2908G>A	c.(2908-2910)GTG>ATG	p.V970M	TNK2_uc003fvq.1_Missense_Mutation_p.V379M|TNK2_uc003fvr.1_Missense_Mutation_p.V497M|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	970	UBA.			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			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	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)	TCTGTGGTCACCCCATGCACC	0.687													T	195594114	C	T	195594114	3	4	226	1	0	0	0	0	1	0	0	0	16315	507	18	4	220	4	TNK2	3	195594114	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2562250	195594114	2428316	90	114536											
BOD1L	259282	broad.mit.edu	37	chr4	13606144	13606144	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgataatttcctttcattccTatgtttactttttcgttcgg	5	8	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:13606144T>A	uc003gmz.1	-	10	2497	c.2380A>T	c.(2380-2382)AGG>TGG	p.R794W	BOD1L_uc010idr.1_Missense_Mutation_p.R131W	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	794	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						CTTTCATTCCTATGTTTACTT	0.299													A	13606144	T	A	13606144	3	1	226	1	0	0	0	0	1	0	0	0	1483	1521	53	5	6843	5	BOD1L	4	13606144	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08		13606144	177548132	91	114537											
PCDH7	5099	broad.mit.edu	37	chr4	30724156	30724164	+	In_Frame_Del	DEL	ACCGGATCG	ACCGGATCG	-													cggctggctcagcgtcctgcAccggatcgaccgcgaggagg					rs115429836	byFrequency	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:30724155_30724163CACCGGATCG>C	uc003gsk.1	+	0	2119_2127	c.1111_1119CACCGGATCG>C	c.(1111-1119)caccggatc>C	p.HRI371del	PCDH7_uc011bxx.2_In_Frame_Del_p.HRI371del|PCDH7_uc021xnd.1_In_Frame_Del_p.HRI371del|PCDH7_uc021xnc.1_In_Frame_Del_p.HRI371del	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	371	Cadherin 3.				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						CAGCGTCCTGCACCGGATCGACCGCGAGG	0.675													-	30724164	ACCGGATCG	-	30724156	7	5	226	1	0	1	0	1	0	0	0	0	11516	159	6	0	1114	0	PCDH7	4	30724156	In_Frame_Del	DEL	ACCGGATCG	TCGA-D7-A4YT-01A-11D-A25D-08	17118012	30724156	160430120	92	114538											
GABRB1	2560	broad.mit.edu	37	chr4	47427764	47427764	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtggctcggaagtgctcaCgagcgtgagcgaccccaagg	16	11	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:47427764C>G	uc003gxh.2	+	9	1528	c.1154C>G	c.(1153-1155)ACG>AGG	p.T385R	GABRB1_uc011bze.1_Missense_Mutation_p.T315R	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	385	Cytoplasmic (Probable).				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			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAAGTGCTCACGAGCGTGAGC	0.622													G	47427764	C	G	47427764	3	3	226	1	0	0	0	0	1	0	0	0	6166	536	19	5	1188	5	GABRB1	4	47427764	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	16703608	47427764	143726512	93	114539											
UGT2B4	7363	broad.mit.edu	37	chr4	70346533	70346533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttggctcctttatggCgcatgacaaattcaatccag	10	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:70346533C>T	uc003hek.3	-	6	1453	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	UGT2B4_uc011cap.1_Missense_Mutation_p.R333H|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	469					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						TCCTTTATGGCGCATGACAAA	0.473													T	70346533	C	T	70346533	3	4	226	1	0	0	0	0	1	0	0	0	16958	768	27	1	184	1	UGT2B4	4	70346533	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	22918769	70346533	120807743	94	114540											
SULT1B1	27284	broad.mit.edu	37	chr4	70596360	70596360	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcatcattcaggttcttctCtagaaatctaatgatcttct	4	10	8	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:70596360C>T	uc003hen.2	-	7	935	c.637G>A	c.(637-639)GAG>AAG	p.E213K		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	213	PAPS (By similarity).				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					0						AGGTTCTTCTCTAGAAATCTA	0.343													T	70596360	C	T	70596360	3	4	226	1	0	0	0	0	1	0	0	0	15373	922	32	4	261	4	SULT1B1	4	70596360	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	249827	70596360	120557916	95	114541											
ARHGAP24	83478	broad.mit.edu	37	chr4	86491782	86491782	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtggctgaggaagcaaGgaggctttgtcaagacttgg	18	5	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:86491782G>T	uc003hpk.2	+	2	537	c.88G>T	c.(88-90)GGA>TGA	p.G30*	ARHGAP24_uc003hpi.1_Nonsense_Mutation_p.G30*|ARHGAP24_uc003hpj.2_Nonsense_Mutation_p.G30*	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	30	PH.				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				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GAGGAAGCAAGGAGGCTTTGT	0.502													T	86491782	G	T	86491782	4	4	226	1	0	0	0	0	0	1	0	0	873	1001	35	5	90	5	ARHGAP24	4	86491782	Nonsense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	15895422	86491782	104662494	96	114542											
HERC5	51191	broad.mit.edu	37	chr4	89385112	89385112	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctgagcttgttgggtataGagtgactcagatagcatgtg	15	5	1	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:89385112G>A	uc003hrt.2	+	6	1040	c.887G>A	c.(886-888)AGA>AAA	p.R296K		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	296	RCC1 4.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTTGGGTATAGAGTGACTCAG	0.373													A	89385112	G	A	89385112	3	1	226	1	0	0	0	0	1	0	0	0	7061	942	33	4	909	4	HERC5	4	89385112	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	2893330	89385112	101769164	97	114543											
ADAD1	132612	broad.mit.edu	37	chr4	123336756	123336756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgtggatggcctgagtgGgaagatcactgaaaggttaa	15	4	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:123336756G>T	uc003ieo.2	+	11	1704	c.1472G>T	c.(1471-1473)GGG>GTG	p.G491V	ADAD1_uc003iep.2_Missense_Mutation_p.G480V|ADAD1_uc003ieq.2_Missense_Mutation_p.G473V	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	491	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						GGCCTGAGTGGGAAGATCACT	0.348													T	123336756	G	T	123336756	3	4	226	1	0	0	0	0	1	0	0	0	231	1232	43	5	1506	5	ADAD1	4	123336756	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	33951644	123336756	67817520	98	114544											
FAT4	79633	broad.mit.edu	37	chr4	126237620	126237629	+	Frame_Shift_Del	DEL	TCTATCAGTA	TCTATCAGTA	-													ccgtggctcccgttgcacacTctatcagtatctcagctcct							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:126237619_126237628CTCTATCAGTA>C	uc003ifj.4	+	0	53_62	c.53_62CTCTATCAGTA>C	c.(52-63)actctatcagtafs	p.T18fs		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	18					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGTTGCACACTCTATCAGTATCTCAGCTC	0.586											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	126237629	TCTATCAGTA	-	126237620	7	5	226	1	0	1	0	1	0	0	0	0	5692	1538	54	0	56	0	FAT4	4	126237620	Frame_Shift_Del	DEL	TCTATCAGTA	TCGA-D7-A4YT-01A-11D-A25D-08	2900864	126237620	64916656	99	114545											
INTU	27152	broad.mit.edu	37	chr4	128632186	128632186	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taagtggctctatccaccctCagctaataaagaatttccat	5	11	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:128632186C>T	uc003ifk.1	+	14	2558	c.2488C>T	c.(2488-2490)CAG>TAG	p.Q830*	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	830										ovary(1)	1						TATCCACCCTCAGCTAATAAA	0.428													T	128632186	C	T	128632186	4	4	226	1	0	0	0	0	0	1	0	0	7786	827	29	4	2542	4	INTU	4	128632186	Nonsense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2394566	128632186	62522090	100	114546											
HSPA4L	22824	broad.mit.edu	37	chr4	128725170	128725170	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctattttctcacagggctCaatttgaacaactgtgtgct	7	9	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:128725170C>G	uc003ifm.2	+	8	1166	c.913C>G	c.(913-915)CAA>GAA	p.Q305E	HSPA4L_uc010iny.1_Missense_Mutation_p.Q264E|HSPA4L_uc011cgr.1_Missense_Mutation_p.Q272E	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	305					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TCACAGGGCTCAATTTGAACA	0.348													G	128725170	C	G	128725170	3	3	226	1	0	0	0	0	1	0	0	0	7413	827	29	5	943	5	HSPA4L	4	128725170	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	92984	128725170	62429106	101	114547											
INPP4B	8821	broad.mit.edu	37	chr4	143191883	143191883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatctcccccatcttcacgAcactgacttctatggtgcca	5	16	4	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr4:143191883A>G	uc003iix.3	-	11	1143	c.548T>C	c.(547-549)GTC>GCC	p.V183A	INPP4B_uc003iiw.3_Missense_Mutation_p.V183A|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_5'UTR|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.V54A	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	183					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					CATCTTCACGACACTGACTTC	0.453													G	143191883	A	G	143191883	3	3	226	1	0	0	0	0	1	0	0	0	7753	275	10	3	2294	3	INPP4B	4	143191883	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	14466713	143191883	47962393	102	114548											
CDH18	1016	broad.mit.edu	37	chr5	19721493	19721493	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaagtagggttgtccttgGagaatgctgtaaaccacccg	13	8	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:19721493G>A	uc003jgc.2	-	4	983	c.606C>T	c.(604-606)CTC>CTT	p.L202L	CDH18_uc003jgd.2_Silent_p.L202L|CDH18_uc011cnm.1_Silent_p.L202L	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	202	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTTGTCCTTGGAGAATGCTGT	0.473													A	19721493	G	A	19721493	2	1	226	1	0	0	0	0	0	0	0	1	3103	1161	41	4		4	CDH18	5	19721493	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		19721493	161193767	103	114549											
GOLPH3	64083	broad.mit.edu	37	chr5	32135789	32135789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagcatctgacttacagaTtacctaaaaagaaagcaaaa	7	7	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:32135789T>C	uc003jhp.1	-	3	646	c.361A>G	c.(361-363)ATC>GTC	p.I121V		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3	121					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			ovary(1)	1						GACTTACAGATTACCTAAAAA	0.358													C	32135789	T	C	32135789	3	2	226	1	0	0	0	0	1	0	0	0	6568	1493	52	3	543	3	GOLPH3	5	32135789	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	12414296	32135789	148779471	104	114550											
PRLR	5618	broad.mit.edu	37	chr5	35086401	35086401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtttccttattgggagAacgacatttaaagatctcag	9	6	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:35086401A>G	uc003jjm.2	-	4	642	c.112T>C	c.(112-114)TCT>CCT	p.S38P	PRLR_uc003jjg.1_Missense_Mutation_p.S38P|PRLR_uc003jjh.1_Missense_Mutation_p.S38P|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.S38P|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	38	Fibronectin type-III 1.|Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTATTGGGAGAACGACATTTA	0.448													G	35086401	A	G	35086401	3	3	226	1	0	0	0	0	1	0	0	0	12531	246	9	3	1784	3	PRLR	5	35086401	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	2950612	35086401	145828859	105	114551											
HEATR7B2	133558	broad.mit.edu	37	chr5	41033143	41033144	+	Splice_Site	INS	-	-	CAAT													tccctctctgcacactcaccINSagcatgtaaccaatcagcat							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:41033142_41033143C>CCAAT	uc003jmj.4	-	23	2851	c.2361_splice	c.e23+1	p.L787_splice	HEATR7B2_uc003jmi.4_Splice_Site_p.L342_splice	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	787							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGCACACTCACCAGCATGTAAC	0.446													CAAT	41033144	-	CAAT	41033143	8	5	226	1	0	1	1	0	0	0	1	0	7035	608	21	0	2476	0	HEATR7B2	5	41033143	Splice_Site	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08	5946742	41033143	139882117	106	114552											
C5orf44	80006	broad.mit.edu	37	chr5	64946672	64946672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagttatacaactcaggctgGagaaaaaatgtatttcagaa	9	5	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:64946672G>C	uc003jtz.3	+	6	794	c.464G>C	c.(463-465)GGA>GCA	p.G155A	C5orf44_uc003jua.3_Missense_Mutation_p.G155A|C5orf44_uc003juc.3_Missense_Mutation_p.G155A|C5orf44_uc010iwv.2_Missense_Mutation_p.G155A	NM_024941	NP_079217	A5PLN9	CE044_HUMAN	hypothetical protein LOC80006 isoform 2	155										ovary(1)	1						ACTCAGGCTGGAGAAAAAATG	0.303													C	64946672	G	C	64946672	3	2	226	1	0	0	0	0	1	0	0	0	2303	1174	41	5	486	5	C5orf44	5	64946672	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	23913529	64946672	115968588	107	114553											
MAP1B	4131	broad.mit.edu	37	chr5	71495728	71495728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatatcgactctgaagaCgagtcggaaaccatccccac	8	14	1	2	rs77733766	byFrequency	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:71495728C>T	uc003kbw.3	+	5	6787	c.6546C>T	c.(6544-6546)GAC>GAT	p.D2182D	MAP1B_uc010iyw.1_Silent_p.D2199D|MAP1B_uc010iyx.1_Silent_p.D2056D|MAP1B_uc010iyy.1_Silent_p.D2056D	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2182						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		ACTCTGAAGACGAGTCGGAAA	0.597													T	71495728	C	T	71495728	2	4	226	1	0	0	0	0	0	0	0	1	9228	535	19	1		1	MAP1B	5	71495728	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6549056	71495728	109419532	108	114554											
FER	2241	broad.mit.edu	37	chr5	108521949	108521949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagctttggcatccttctctGggagaccttcagcttagggg	13	10	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:108521949G>C	uc003kop.1	+	19	2636	c.2252G>C	c.(2251-2253)TGG>TCG	p.W751S	FER_uc011cvg.1_Missense_Mutation_p.W576S	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	751	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		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)		ATCCTTCTCTGGGAGACCTTC	0.473													C	108521949	G	C	108521949	3	2	226	1	0	0	0	0	1	0	0	0	5813	1357	47	5	2318	5	FER	5	108521949	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	37026221	108521949	72393311	109	114555											
PDLIM4	8572	broad.mit.edu	37	chr5	131607543	131607543	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacggccagcaagctgggcGctccgctgagcggcctgcag	15	16	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:131607543G>C	uc003kwn.2	+	6	807	c.730G>C	c.(730-732)GCT>CCT	p.A244P	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Intron|PDLIM4_uc003kwo.2_Missense_Mutation_p.A352P	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	244							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGCTGGGCGCTCCGCTGAG	0.726													C	131607543	G	C	131607543	3	2	226	1	0	0	0	0	1	0	0	0	11682	1087	38	5	752	5	PDLIM4	5	131607543	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	23085594	131607543	49307717	110	114556											
CTNNA1	1495	broad.mit.edu	37	chr5	138269667	138269667	+	Silent	SNP	G	G	A													ccagagaaaaagccattggtGaagagagagaaacaggatga							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:138269667G>A	uc003ldh.2	+	18	2705	c.2610G>A	c.(2608-2610)GTG>GTA	p.V870V	CTNNA1_uc011cyx.1_Silent_p.V767V|CTNNA1_uc011cyy.1_Silent_p.V747V|CTNNA1_uc003ldi.2_Silent_p.V568V|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Silent_p.V500V	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	870					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCCATTGGTGAAGAGAGAGA	0.502													A	138269667	G	A	138269667	2	1	226	1	0	0	0	0	0	0	0	1	4012	1277	45	4		4	CTNNA1	5	138269667	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	6662124	138269667	42645593	111	114557	542	2									
CTNNA1	1495	broad.mit.edu	37	chr5	138269676	138269676	+	Missense_Mutation	SNP	G	G	C													aagccattggtgaagagagaGaaacaggatgagacacagac							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:138269676G>C	uc003ldh.2	+	18	2714	c.2619G>C	c.(2617-2619)GAG>GAC	p.E873D	CTNNA1_uc011cyx.1_Missense_Mutation_p.E770D|CTNNA1_uc011cyy.1_Missense_Mutation_p.E750D|CTNNA1_uc003ldi.2_Missense_Mutation_p.E571D|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.E503D	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	873					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAAGAGAGAGAAACAGGATG	0.493													C	138269676	G	C	138269676	3	2	226	1	0	0	0	0	1	0	0	0	4012	933	33	5	2685	5	CTNNA1	5	138269676	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	9	138269676	42645584	112	114558	542	2									
PCDHGA2	56113	broad.mit.edu	37	chr5	140719889	140719889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcaacgacaacgcacccGccttctcccgcacatcctac	4	20	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:140719889G>A	uc003ljk.1	+	1	1536	c.1351G>A	c.(1351-1353)GCC>ACC	p.A451T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.A451T	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	451	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCACCCGCCTTCTCCCG	0.552													A	140719889	G	A	140719889	3	1	226	1	0	0	0	0	1	0	0	0	11554	1087	38	1	1353	1	PCDHGA2	5	140719889	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	2450213	140719889	40195371	113	114559											
SH3RF2	153769	broad.mit.edu	37	chr5	145439568	145439568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccctcctccccctcagcCgtggtggtggagatggggtc	13	15	1	1	rs142262740	by1000genomes	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:145439568C>T	uc003lnt.2	+	9	1933	c.1695C>T	c.(1693-1695)GCC>GCT	p.A565A	SH3RF2_uc011dbl.1_Silent_p.A565A|SH3RF2_uc011dbm.1_Silent_p.A50A|SH3RF2_uc003lnu.2_Silent_p.A56A|SH3RF2_uc011dbn.1_Silent_p.A56A|SH3RF2_uc011dbo.1_Silent_p.A22A	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	565							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCCTCAGCCGTGGTGGTGG	0.672													T	145439568	C	T	145439568	2	4	226	1	0	0	0	0	0	0	0	1	14259	639	23	1		1	SH3RF2	5	145439568	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	4719679	145439568	35475692	114	114560											
CSNK1A1	1452	broad.mit.edu	37	chr5	148885058	148885058	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttgcctgtgggggtttGggcctgctgaccctgcccac	14	13	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:148885058G>C	uc003lqx.1	-	9	1438	c.958C>G	c.(958-960)CAA>GAA	p.Q320E	CSNK1A1_uc011dcb.1_Missense_Mutation_p.Q229E|CSNK1A1_uc011dcc.1_Missense_Mutation_p.Q259E|CSNK1A1_uc003lqv.1_Missense_Mutation_p.Q231E|CSNK1A1_uc003lqw.1_Missense_Mutation_p.Q348E|CSNK1A1_uc003lqy.1_Missense_Mutation_p.Q320E|CSNK1A1_uc010jha.1_Missense_Mutation_p.Q320E	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	320					cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTGGGGGTTTGGGCCTGCTGA	0.453													C	148885058	G	C	148885058	3	2	226	1	0	0	0	0	1	0	0	0	3950	1357	47	5	63	5	CSNK1A1	5	148885058	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3445490	148885058	32030202	115	114561											
NUDCD2	134492	broad.mit.edu	37	chr5	162880981	162880981	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaaaaaagcagttatttctCaaggtttgagaaatctggtc	9	5	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:162880981C>G	uc003lze.2	-	4	553	c.466G>C	c.(466-468)GAG>CAG	p.E156Q		NM_145266	NP_660309	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	156						intracellular					0	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		AGTTATTTCTCAAGGTTTGAG	0.358													G	162880981	C	G	162880981	3	3	226	1	0	0	0	0	1	0	0	0	10723	835	29	5	11	5	NUDCD2	5	162880981	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	13995923	162880981	18034279	116	114562											
TMED9	54732	broad.mit.edu	37	chr5	177022391	177022391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcggcacctcaagagcTtctttgaagccaagaagctt	10	10	2	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr5:177022391T>G	uc003mhx.2	+	5	685	c.682T>G	c.(682-684)TTC>GTC	p.F228V	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	228	Cytoplasmic (Potential).				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	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)			CCTCAAGAGCTTCTTTGAAGC	0.582													G	177022391	T	G	177022391	3	3	226	1	0	0	0	0	1	0	0	0	16009	1609	56	5	700	5	TMED9	5	177022391	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	14141410	177022391	3892869	117	114563											
ATXN1	6310	broad.mit.edu	37	chr6	16326666	16326666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaactgtatcacggccaCgcccgggctatggctgtctt	13	13	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:16326666C>T	uc003nbt.2	-	8	2847	c.1876G>A	c.(1876-1878)GTG>ATG	p.V626M	ATXN1_uc010jpi.2_Missense_Mutation_p.V626M|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	626	Interaction with USP7.|RNA-binding.|AXH.				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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ATCACGGCCACGCCCGGGCTA	0.552													T	16326666	C	T	16326666	3	4	226	1	0	0	0	0	1	0	0	0	1209	536	19	1	579	1	ATXN1	6	16326666	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08		16326666	154788401	118	114564											
NUP153	9972	broad.mit.edu	37	chr6	17675805	17675822	+	In_Frame_Del	DEL	ATCATGCTGAGAGGTAGA	ATCATGCTGAGAGGTAGA	-													gtagttgagatgttatcatcAtcatgctgagaggtagaatc					rs145527673		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:17675804_17675821CATCATGCTGAGAGGTAGA>C	uc003ncd.1	-	2	715_732	c.515_532TCTACCTCTCAGCATGATG>G	c.(514-534)tctacctctcagcatgatgat>tGat	p.172_178STSQHDD>*	NUP153_uc011dje.1_In_Frame_Del_p.172_178STSQHDD>*|NUP153_uc010jpl.1_In_Frame_Del_p.172_178STSQHDD>*	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	172					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)			ATGTTATCATCATCATGCTGAGAGGTAGAATCTTTAAT	0.39													-	17675822	ATCATGCTGAGAGGTAGA	-	17675805	7	5	226	1	0	1	0	1	0	0	0	0	10755	214	8	0	3976	0	NUP153	6	17675805	In_Frame_Del	DEL	ATCATGCTGAGAGGTAGA	TCGA-D7-A4YT-01A-11D-A25D-08	1349139	17675805	153439262	119	114565											
SCAND3	114821	broad.mit.edu	37	chr6	28543077	28543077	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgcagaactctggcTttggcaggtctgagacttcc	11	10	3	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:28543077T>A	uc003nlo.2	-	3	2023	c.1405A>T	c.(1405-1407)AGC>TGC	p.S469C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	469	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAACTCTGGCTTTGGCAGGTC	0.423													A	28543077	T	A	28543077	3	1	226	1	0	0	0	0	1	0	0	0	13876	1609	56	5	2580	5	SCAND3	6	28543077	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	10867272	28543077	142571990	120	114566											
ABCF1	23	broad.mit.edu	37	chr6	30554043	30554043	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgtgcgcttcacttttccaGaccccccaccactcagccct	5	20	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:30554043G>C	uc003nql.2	+	18	1941	c.1846G>C	c.(1846-1848)GAC>CAC	p.D616H	ABCF1_uc003nqm.2_Missense_Mutation_p.D578H|ABCF1_uc010jsb.2_Intron	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	616					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						CACTTTTCCAGACCCCCCACC	0.597													C	30554043	G	C	30554043	3	2	226	1	0	0	0	0	1	0	0	0	65	942	33	5	1916	5	ABCF1	6	30554043	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	2010966	30554043	140561024	121	114567											
LY6G6C	80740	broad.mit.edu	37	chr6	31686912	31686913	+	Frame_Shift_Ins	INS	-	-	A													caaggccagccaaggaggtaINSaggaagacaaggcccagggc							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:31686911_31686912T>TA	uc003nwh.3	-	2	394_395	c.339_340A>TA	c.(337-342)cttaccfs	p.L113fs	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	113						anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GCCAAGGAGGTAAGGAAGACAA	0.614													A	31686913	-	A	31686912	7	5	226	1	0	1	1	0	0	0	0	0	9094	349	13	0	42	0	LY6G6C	6	31686912	Frame_Shift_Ins	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08	1132869	31686912	139428155	122	114568											
DOM3Z	1797	broad.mit.edu	37	chr6	31938570	31938570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccacgttggtgttaacctCcccagaggggtctggggagc	16	11	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:31938570C>T	uc003nyo.1	-	3	1159	c.625G>A	c.(625-627)GAG>AAG	p.E209K	DOM3Z_uc003nyp.1_Missense_Mutation_p.E209K|DOM3Z_uc003nyq.1_Intron|DOM3Z_uc003nyr.1_Missense_Mutation_p.E209K|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	209							identical protein binding|metal ion binding|nucleotide binding				0						GTGTTAACCTCCCCAGAGGGG	0.622													T	31938570	C	T	31938570	3	4	226	1	0	0	0	0	1	0	0	0	4705	864	30	4	581	4	DOM3Z	6	31938570	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	251658	31938570	139176497	123	114569											
BRPF3	27154	broad.mit.edu	37	chr6	36181868	36181868	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatgagcctttgcaacgcttGctcagtgacaatggcatcaa	9	10	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:36181868G>C	uc003olv.3	+	8	2918	c.2694G>C	c.(2692-2694)TTG>TTC	p.L898F	BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	898					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						TGCAACGCTTGCTCAGTGACA	0.542													C	36181868	G	C	36181868	3	2	226	1	0	0	0	0	1	0	0	0	1521	1310	46	5	2720	5	BRPF3	6	36181868	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	4243298	36181868	134933199	124	114570											
C6orf89	221477	broad.mit.edu	37	chr6	36882162	36882162	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacctgaaggtgatgctccTggaagacgccccaaggaaat	11	11	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:36882162T>A	uc003omx.2	+	5	790	c.506T>A	c.(505-507)CTG>CAG	p.L169Q	C6orf89_uc003omv.2_Missense_Mutation_p.L63Q|C6orf89_uc003omw.2_Missense_Mutation_p.L176Q|C6orf89_uc011dtr.1_Missense_Mutation_p.L63Q|C6orf89_uc003omy.2_Missense_Mutation_p.L3Q	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	hypothetical protein LOC221477	169						integral to membrane				ovary(1)	1						GTGATGCTCCTGGAAGACGCC	0.542													A	36882162	T	A	36882162	3	1	226	1	0	0	0	0	1	0	0	0	2373	1580	55	5	541	5	C6orf89	6	36882162	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	700294	36882162	134232905	125	114571											
RNF8	9025	broad.mit.edu	37	chr6	37336407	37336407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagttactgaagaagactggGagacaatatatccttgtctt	9	6	1	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:37336407G>C	uc003onq.3	+	3	581	c.388G>C	c.(388-390)GAG>CAG	p.E130Q	RNF8_uc003onr.3_Missense_Mutation_p.E130Q|RNF8_uc011dtx.1_Missense_Mutation_p.E62Q	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	130					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			ovary(1)	1						AGAAGACTGGGAGACAATATA	0.378													C	37336407	G	C	37336407	3	2	226	1	0	0	0	0	1	0	0	0	13500	1175	41	5	398	5	RNF8	6	37336407	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	454245	37336407	133778660	126	114572											
CD2AP	23607	broad.mit.edu	37	chr6	47575752	47575752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaattaaaaaaagatacatgCtactctccaaaggtgaggtg	9	6	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:47575752C>G	uc003oyw.2	+	15	2076	c.1620C>G	c.(1618-1620)TGC>TGG	p.C540W		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	540					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			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGATACATGCTACTCTCCAA	0.393													G	47575752	C	G	47575752	3	3	226	1	0	0	0	0	1	0	0	0	2994	805	28	5	1678	5	CD2AP	6	47575752	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	10239345	47575752	123539315	127	114573											
ANKRD6	22881	broad.mit.edu	37	chr6	90333683	90333683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaccctaaaaagaggaaCaggcatcggtgttcatcccc	8	12	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:90333683C>T	uc003pni.3	+	12	1466	c.1125C>T	c.(1123-1125)AAC>AAT	p.N375N	ANKRD6_uc003pne.3_Silent_p.N375N|ANKRD6_uc003pnf.3_Silent_p.N340N|ANKRD6_uc011dzy.1_Silent_p.N375N|ANKRD6_uc010kcd.2_Silent_p.N316N|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	375							protein binding			ovary(2)|pancreas(1)	3		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)		AAAAGAGGAACAGGCATCGGT	0.542													T	90333683	C	T	90333683	2	4	226	1	0	0	0	0	0	0	0	1	685	477	17	4		4	ANKRD6	6	90333683	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	42757931	90333683	80781384	128	114574											
SLC35F1	222553	broad.mit.edu	37	chr6	118556701	118556701	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctggcaattttacgaCgaagatggtggaagtacatg	11	8	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:118556701C>T	uc003pxx.3	+	3	580	c.379C>T	c.(379-381)CGA>TGA	p.R127*		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	127					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		AATTTTACGACGAAGATGGTG	0.388													T	118556701	C	T	118556701	4	4	226	1	0	0	0	0	0	1	0	0	14588	528	19	1	389	1	SLC35F1	6	118556701	Nonsense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	28223018	118556701	52558366	129	114575											
SAMD3	154075	broad.mit.edu	37	chr6	130465893	130465893	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctaaatataaagaaaattcGcagacctccatgttgaaagg	7	7	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:130465893G>C	uc003qbv.2	-	13	1661	c.1335C>G	c.(1333-1335)TGC>TGG	p.C445W	SAMD3_uc003qbx.2_Missense_Mutation_p.C445W|SAMD3_uc003qbw.2_Missense_Mutation_p.C445W	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	445										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAGAAAATTCGCAGACCTCCA	0.423													C	130465893	G	C	130465893	3	2	226	1	0	0	0	0	1	0	0	0	13820	1079	38	5	231	5	SAMD3	6	130465893	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	11909192	130465893	40649174	130	114576											
TNFAIP3	7128	broad.mit.edu	37	chr6	138192409	138192409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtatttgagcaatatGcggaaagctgtgaagatacg	12	5	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:138192409G>T	uc003qhr.2	+	2	111	c.45G>T	c.(43-45)ATG>ATT	p.M15I	TNFAIP3_uc003qhs.2_Missense_Mutation_p.M15I	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	15					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?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TGAGCAATATGCGGAAAGCTG	0.403			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma						OREG0031869	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	T	138192409	G	T	138192409	3	4	226	1	0	0	0	0	1	0	0	0	16271	1319	46	5	47	5	TNFAIP3	6	138192409	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	7726516	138192409	32922658	131	114577											
UTRN	7402	broad.mit.edu	37	chr6	144749929	144749929	+	Missense_Mutation	SNP	C	C	A													ttcagacctgatctcttcagCtgggataaagttgtcaaaat							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:144749929C>A	uc003qkt.2	+	7	686	c.594C>A	c.(592-594)AGC>AGA	p.S198R	UTRN_uc010khq.1_Missense_Mutation_p.S198R	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	198	CH 2.|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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCTCTTCAGCTGGGATAAAG	0.348													A	144749929	C	A	144749929	3	1	226	1	0	0	0	0	1	0	0	0	17100	796	28	5	620	5	UTRN	6	144749929	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6557520	144749929	26365138	132	114578	543	2									
UTRN	7402	broad.mit.edu	37	chr6	144749936	144749936	+	Missense_Mutation	SNP	A	A	G													ctgatctcttcagctgggatAaagttgtcaaaatgtcacca							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:144749936A>G	uc003qkt.2	+	7	693	c.601A>G	c.(601-603)AAA>GAA	p.K201E	UTRN_uc010khq.1_Missense_Mutation_p.K201E	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	201	CH 2.|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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGCTGGGATAAAGTTGTCAA	0.353													G	144749936	A	G	144749936	3	3	226	1	0	0	0	0	1	0	0	0	17100	363	13	3	627	3	UTRN	6	144749936	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	7	144749936	26365131	133	114579	543	2									
AKAP12	9590	broad.mit.edu	37	chr6	151670624	151670624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccggcagaaagtgcccaCgagccccggttatcagctga	13	13	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:151670624C>T	uc011eep.1	+	4	1338	c.1098C>T	c.(1096-1098)CAC>CAT	p.H366H	AKAP12_uc003qoe.2_Silent_p.H366H|AKAP12_uc003qof.2_Silent_p.H268H|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.H261H	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	366	Involved in PKC-binding (Probable).				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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAAGTGCCCACGAGCCCCGGT	0.562													T	151670624	C	T	151670624	2	4	226	1	0	0	0	0	0	0	0	1	448	535	19	1		1	AKAP12	6	151670624	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6920688	151670624	19444443	134	114580											
MAS1	4142	broad.mit.edu	37	chr6	160328818	160328818	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaacagtagcgccaacccTttcatttacttctttgtggg	7	11	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:160328818T>A	uc003qsz.2	+	1	845	c.831T>A	c.(829-831)CCT>CCA	p.P277P		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	277	Helical; Name=7; (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GCGCCAACCCTTTCATTTACT	0.448													A	160328818	T	A	160328818	2	1	226	1	0	0	0	0	0	0	0	1	9320	1596	56	5		5	MAS1	6	160328818	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	8658194	160328818	10786249	135	114581											
T	6862	broad.mit.edu	37	chr6	166580155	166580155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccttcatccagtgggccccGaagttgggcgagtcggggtg	17	11	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr6:166580155G>T	uc003quu.1	-	3	889	c.396C>A	c.(394-396)TTC>TTA	p.F132L	T_uc003qut.1_Missense_Mutation_p.F132L|T_uc003quv.1_Missense_Mutation_p.F132L	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	132	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		AGTGGGCCCCGAAGTTGGGCG	0.657									Chordoma_Familial_Clustering_of				T	166580155	G	T	166580155	3	4	226	1	0	0	0	0	1	0	0	0	15485	1049	37	5	939	5	T	6	166580155	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	6251337	166580155	4534912	136	114582											
GPNMB	10457	broad.mit.edu	37	chr7	23309691	23309691	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagatgtgtctgctgactgtGagacgaaccttcaatgggtc	13	8	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:23309691G>C	uc003swc.2	+	9	1523	c.1362G>C	c.(1360-1362)GTG>GTC	p.V454V	GPNMB_uc003swb.2_Silent_p.V442V|GPNMB_uc011jyy.1_Silent_p.V396V|GPNMB_uc011jyz.1_Silent_p.V343V	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	454	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			TGCTGACTGTGAGACGAACCT	0.552													C	23309691	G	C	23309691	2	2	226	1	0	0	0	0	0	0	0	1	6620	1277	45	5		5	GPNMB	7	23309691	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		23309691	135828972	137	114583											
NOD1	10392	broad.mit.edu	37	chr7	30491602	30491602	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcacctcctcctgggtgaaGacaaagaggctcttctccat	9	13	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:30491602G>C	uc003tav.2	-	6	1954	c.1431C>G	c.(1429-1431)GTC>GTG	p.V477V		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	477	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CCTGGGTGAAGACAAAGAGGC	0.692													C	30491602	G	C	30491602	2	2	226	1	0	0	0	0	0	0	0	1	10516	929	33	5		5	NOD1	7	30491602	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	7181911	30491602	128647061	138	114584											
SFRP4	6424	broad.mit.edu	37	chr7	37947099	37947099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcacactcttttcgggttTgttctcttctgggcactcct	8	13	4	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:37947099T>C	uc003tfo.3	-	6	1409	c.1023A>G	c.(1021-1023)ACA>ACG	p.T341T		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	341					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			lung(1)	1						TTTTCGGGTTTGTTCTCTTCT	0.512													C	37947099	T	C	37947099	2	2	226	1	0	0	0	0	0	0	0	1	14163	1799	63	3		3	SFRP4	7	37947099	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	7455497	37947099	121191564	139	114585											
INHBA	3624	broad.mit.edu	37	chr7	41729775	41729775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagaaccaagctggCgccactctcctggcactgct	11	16	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:41729775C>T	uc003thq.2	-	2	989	c.754G>A	c.(754-756)GCC>ACC	p.A252T	INHBA_uc003thr.2_Missense_Mutation_p.A252T	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	252					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			lung(5)|ovary(1)	6						ACCAAGCTGGCGCCACTCTCC	0.378										TSP Lung(11;0.080)			T	41729775	C	T	41729775	3	4	226	1	0	0	0	0	1	0	0	0	7741	768	27	1	530	1	INHBA	7	41729775	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3782676	41729775	117408888	140	114586											
AUTS2	26053	broad.mit.edu	37	chr7	70227930	70227930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgattgtccccaagatatcgGgtctagagagaagccaggag	13	9	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:70227930G>T	uc003tvw.3	+	7	1560	c.817G>T	c.(817-819)GGT>TGT	p.G273C	AUTS2_uc003tvx.3_Missense_Mutation_p.G273C	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	273										ovary(2)|central_nervous_system(1)	3		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)		CAAGATATCGGGTCTAGAGAG	0.537													T	70227930	G	T	70227930	3	4	226	1	0	0	0	0	1	0	0	0	1225	1232	43	5	988	5	AUTS2	7	70227930	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	28498155	70227930	88910733	141	114587											
AUTS2	26053	broad.mit.edu	37	chr7	70228154	70228154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacagggccctcctgaGgcccagctccagcctgcccc	9	22	0	1	rs151096425		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:70228154G>T	uc003tvw.3	+	7	1784	c.1041G>T	c.(1039-1041)GAG>GAT	p.E347D	AUTS2_uc003tvx.3_Missense_Mutation_p.E347D	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	347								p.E347K(1)		ovary(2)|central_nervous_system(1)	3		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)		GCCCTCCTGAGGCCCAGCTCC	0.677													T	70228154	G	T	70228154	3	4	226	1	0	0	0	0	1	0	0	0	1225	991	35	5	1212	5	AUTS2	7	70228154	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	224	70228154	88910509	142	114588											
RUNDC3B	154661	broad.mit.edu	37	chr7	87436707	87436707	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggactgtgctaaagaataatGatttaagatcgagacaagag	11	4	0	5			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:87436707G>A	uc003ujb.2	+	10	1438	c.1027G>A	c.(1027-1029)GAT>AAT	p.D343N	RUNDC3B_uc011khd.1_Missense_Mutation_p.D326N|RUNDC3B_uc011khe.1_Missense_Mutation_p.D326N|RUNDC3B_uc003ujc.2_Intron|RUNDC3B_uc003ujd.2_Intron	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	343										skin(1)	1	Esophageal squamous(14;0.00164)					AAAGAATAATGATTTAAGATC	0.433													A	87436707	G	A	87436707	3	1	226	1	0	0	0	0	1	0	0	0	13745	1290	45	4	1065	4	RUNDC3B	7	87436707	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	17208553	87436707	71701956	143	114589											
CYP51A1	1595	broad.mit.edu	37	chr7	91752481	91752481	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccacagactgttttctGttctaaataacatttttttt	3	9	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:91752481G>A	uc003ulm.3	-	7	1201	c.1039C>T	c.(1039-1041)CAG>TAG	p.Q347*	CYP51A1_uc011khn.1_Nonsense_Mutation_p.Q242*|CYP51A1_uc003uln.3_Nonsense_Mutation_p.Q284*	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	341					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	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)	ACTGTTTTCTGTTCTAAATAA	0.403													A	91752481	G	A	91752481	4	1	226	1	0	0	0	0	0	1	0	0	4195	1386	48	4	506	4	CYP51A1	7	91752481	Nonsense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	4315774	91752481	67386182	144	114590											
TECPR1	25851	broad.mit.edu	37	chr7	97863002	97863002	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgttgggtctggcctccCtgctgccctcggctgggcag	16	14	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:97863002C>G	uc003upg.2	-	11	1608	c.1403G>C	c.(1402-1404)AGG>ACG	p.R468T	TECPR1_uc003uph.1_Missense_Mutation_p.R398T	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	468						integral to membrane	protein binding			pancreas(1)	1						TCTGGCCTCCCTGCTGCCCTC	0.662													G	97863002	C	G	97863002	3	3	226	1	0	0	0	0	1	0	0	0	15740	681	24	5	2158	5	TECPR1	7	97863002	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6110521	97863002	61275661	145	114591											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757827	99757827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcggcgagcccggagCtcggccacagctgtctgcag	14	16	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:99757827C>T	uc003utt.2	-	3	2202	c.1185G>A	c.(1183-1185)GAG>GAA	p.E395E	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Silent_p.E395E|GAL3ST4_uc010lgq.2_Silent_p.E333E	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	395	Lumenal (Potential).				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			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCCCGGAGCTCGGCCACAG	0.607													T	99757827	C	T	99757827	2	4	226	1	0	0	0	0	0	0	0	1	6200	796	28	2		2	GAL3ST4	7	99757827	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1894825	99757827	59380836	146	114592											
PTN	5764	broad.mit.edu	37	chr7	136939673	136939673	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaatgaatgccaagaaGgcagctgcaaattttcgacg	10	7	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:136939673G>T	uc003vtq.2	-	2	411	c.48C>A	c.(46-48)GCC>GCA	p.A16A	PTN_uc010lmx.2_Silent_p.A16A|PTN_uc003vtr.1_Silent_p.A16A	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	16					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			upper_aerodigestive_tract(1)|pancreas(1)	2						ATGCCAAGAAGGCAGCTGCAA	0.463													T	136939673	G	T	136939673	2	4	226	1	0	0	0	0	0	0	0	1	12768	987	35	5		5	PTN	7	136939673	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	37181846	136939673	22198990	147	114593											
TAS2R38	5726	broad.mit.edu	37	chr7	141673474	141673474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ataggacacagtgcggatgcGagttagagtcaacatgatgt	13	6	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:141673474G>C	uc003vwx.1	-	1	100	c.16C>G	c.(16-18)CGC>GGC	p.R6G		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	6	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					GTGCGGATGCGAGTTAGAGTC	0.448													C	141673474	G	C	141673474	3	2	226	1	0	0	0	0	1	0	0	0	15572	1058	37	5	989	5	TAS2R38	7	141673474	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	4733801	141673474	17465189	148	114594											
REPIN1	29803	broad.mit.edu	37	chr7	150068727	150068727	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggctgggtggccctggttCtgcatctgcgggcccattca	15	12	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:150068727C>T	uc010lpq.1	+	4	886	c.397C>T	c.(397-399)CTG>TTG	p.L133L	REPIN1_uc003whd.2_Silent_p.L122L|REPIN1_uc010lpr.1_Silent_p.L190L|REPIN1_uc003whc.2_Silent_p.L133L|REPIN1_uc003whe.2_Silent_p.L133L	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	133	C2H2-type 3.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGCCCTGGTTCTGCATCTGCG	0.637													T	150068727	C	T	150068727	2	4	226	1	0	0	0	0	0	0	0	1	13227	912	32	4		4	REPIN1	7	150068727	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	8395253	150068727	9069936	149	114595											
GALNTL5	168391	broad.mit.edu	37	chr7	151711795	151711795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggacatatcagtaagaaaCaaactggaaaaccttctaca	6	8	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:151711795C>A	uc003wkp.2	+	8	1316	c.1093C>A	c.(1093-1095)CAA>AAA	p.Q365K	GALNTL5_uc003wkq.2_Missense_Mutation_p.Q116K|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.Q254K	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	365	Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAGTAAGAAACAAACTGGAAA	0.418													A	151711795	C	A	151711795	3	1	226	1	0	0	0	0	1	0	0	0	6224	479	17	5	1119	5	GALNTL5	7	151711795	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1643068	151711795	7426868	150	114596											
MLL3	58508	broad.mit.edu	37	chr7	151845953	151845953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttcttccatttcattccTctccattttttattgagcgg	4	12	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr7:151845953T>G	uc003wla.2	-	52	13278	c.13059A>C	c.(13057-13059)AGA>AGC	p.R4353S	MLL3_uc003wkz.2_Missense_Mutation_p.R3471S|MLL3_uc003wkx.2_Missense_Mutation_p.R511S|MLL3_uc003wky.2_Missense_Mutation_p.R1917S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4353					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTTCATTCCTCTCCATTTTT	0.433			N		medulloblastoma								G	151845953	T	G	151845953	3	3	226	1	0	0	0	0	1	0	0	0	9622	1548	54	5	1708	5	MLL3	7	151845953	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	134158	151845953	7292710	151	114597											
FAM86B1	85002	broad.mit.edu	37	chr8	12043996	12043996	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctctaatgagaggccattgaGaaggacattccctcggagct	11	10	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:12043996G>C	uc010lse.2	-	5	550	c.505C>G	c.(505-507)CTC>GTC	p.L169V	FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_Intron|FAM86B1_uc003wvi.3_Intron|FAM86B1_uc010lsd.2_Intron|FAM86B1_uc003wvh.3_Intron|FAM86B1_uc011kxq.1_Intron|FAM86B1_uc010lsf.2_Intron|FAM86B1_uc003wvj.3_Missense_Mutation_p.L103V|FAM86B1_uc003wvk.3_Missense_Mutation_p.L203V|FAM86B1_uc010lsg.2_Intron|FAM86B1_uc003wvl.3_Intron	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	hypothetical protein LOC85002	169											0			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		AGGCCATTGAGAAGGACATTC	0.597													C	12043996	G	C	12043996	3	2	226	1	0	0	0	0	1	0	0	0	5644	942	33	5	397	5	FAM86B1	8	12043996	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		12043996	134320026	152	114598											
POLB	5423	broad.mit.edu	37	chr8	42202482	42202482	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccttatagaaaagcagcatCtgttatagcaaaatacccac	5	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:42202482C>G	uc003xoz.1	+	3	244	c.131C>G	c.(130-132)TCT>TGT	p.S44C	POLB_uc003xpa.1_Missense_Mutation_p.S44C|POLB_uc011lcs.1_Translation_Start_Site	NM_002690	NP_002681	P06746	DPOLB_HUMAN	DNA-directed DNA polymerase beta	44					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			ovary(1)|breast(1)	2	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)	AAAGCAGCATCTGTTATAGCA	0.338								DNA_polymerases_(catalytic_subunits)					G	42202482	C	G	42202482	3	3	226	1	0	0	0	0	1	0	0	0	12189	913	32	5	141	5	POLB	8	42202482	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	30158486	42202482	104161540	153	114599											
ST18	9705	broad.mit.edu	37	chr8	53062442	53062442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagttggaatagaagtGttagaggaagttaggggtgc	18	1	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:53062442G>T	uc003xqz.2	-	11	2058	c.1902C>A	c.(1900-1902)AAC>AAA	p.N634K	ST18_uc011ldq.1_Missense_Mutation_p.N281K|ST18_uc011ldr.1_Missense_Mutation_p.N599K|ST18_uc011lds.1_Missense_Mutation_p.N539K|ST18_uc003xra.2_Missense_Mutation_p.N634K|ST18_uc003xrb.2_Missense_Mutation_p.N634K	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	634						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAATAGAAGTGTTAGAGGAAG	0.453													T	53062442	G	T	53062442	3	4	226	1	0	0	0	0	1	0	0	0	15211	1368	48	5	1285	5	ST18	8	53062442	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	10859960	53062442	93301580	154	114600											
RRS1	23212	broad.mit.edu	37	chr8	67342340	67342340	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggggcaagaggaaagGgggcccgcccagccagggag	20	11	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:67342340G>C	uc003xwa.2	+	1	1078	c.974G>C	c.(973-975)GGG>GCG	p.G325A	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	325	Arg/Gly/Lys-rich.				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		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)			AAGAGGAAAGGGGGCCCGCCC	0.642													C	67342340	G	C	67342340	3	2	226	1	0	0	0	0	1	0	0	0	13692	1232	43	5	976	5	RRS1	8	67342340	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	14279898	67342340	79021682	155	114601											
STK3	6788	broad.mit.edu	37	chr8	99761538	99761538	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctaattatgtctgagacaGagccagcgccacagtactcc	8	12	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:99761538G>A	uc003yip.2	-	4	458	c.317C>T	c.(316-318)TCT>TTT	p.S106F	STK3_uc003yio.2_Missense_Mutation_p.S134F|STK3_uc010mbm.1_Missense_Mutation_p.S106F	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	106	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GTCTGAGACAGAGCCAGCGCC	0.318													A	99761538	G	A	99761538	3	1	226	1	0	0	0	0	1	0	0	0	15294	942	33	4	1190	4	STK3	8	99761538	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	32419198	99761538	46602484	156	114602											
TRPS1	7227	broad.mit.edu	37	chr8	116616365	116616373	+	In_Frame_Del	DEL	AGAGTGCAC	AGAGTGCAC	-													aggagacaagtgcagaagcaAgagtgcacagtgggaacaat							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:116616365_116616373delAGAGTGCAC	uc003ynz.2	-	3	2243_2251	c.1784_1792delGTGCACTCT	c.(1783-1794)TGTGCACTCTTG>TTG	p.CAL595del	TRPS1_uc011lhy.1_In_Frame_Del_p.CAL599del|TRPS1_uc003yny.2_In_Frame_Del_p.CAL608del|TRPS1_uc010mcy.2_In_Frame_Del_p.CAL595del	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	595_597					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TGCAGAAGCAAGAGTGCACAGTGGGAACA	0.483									Langer-Giedion_syndrome				-	116616373	AGAGTGCAC	-	116616365	7	5	226	1	0	1	0	1	0	0	0	0	16590	69	3	0	2069	0	TRPS1	8	116616365	In_Frame_Del	DEL	AGAGTGCAC	TCGA-D7-A4YT-01A-11D-A25D-08	16854827	116616365	29747657	157	114603											
ZHX2	22882	broad.mit.edu	37	chr8	123966231	123966231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggctgaatcagactcCgactgcgtccctgcagaggc	12	13	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:123966231C>T	uc003ypk.1	+	3	3048	c.2481C>T	c.(2479-2481)TCC>TCT	p.S827S		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	827						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AATCAGACTCCGACTGCGTCC	0.587													T	123966231	C	T	123966231	2	4	226	1	0	0	0	0	0	0	0	1	17673	639	23	1		1	ZHX2	8	123966231	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	7349866	123966231	22397791	158	114604											
FAM83A	84985	broad.mit.edu	37	chr8	124219604	124219604	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagtggctccgccagTgaccgcacgtcctccaaccc	10	18	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:124219604T>G	uc003ypv.2	+	5	2995	c.981T>G	c.(979-981)AGT>AGG	p.S327R	FAM83A_uc003ypw.2_Missense_Mutation_p.S327R|FAM83A_uc003ypy.2_Missense_Mutation_p.S271R|FAM83A_uc003ypx.2_Missense_Mutation_p.S327R|FAM83A_uc003ypz.2_Missense_Mutation_p.S327R	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	327	Ser-rich.									ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTCCGCCAGTGACCGCACGT	0.731													G	124219604	T	G	124219604	3	3	226	1	0	0	0	0	1	0	0	0	5633	1693	59	5	995	5	FAM83A	8	124219604	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	253373	124219604	22144418	159	114605											
ATAD2	29028	broad.mit.edu	37	chr8	124359446	124359446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacaacggtggacagtgCctgcccaggtgatgtcacag	12	11	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:124359446C>T	uc003yqh.3	-	16	2206	c.2098G>A	c.(2098-2100)GCA>ACA	p.A700T	ATAD2_uc011lii.1_Missense_Mutation_p.A491T|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A700T	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGGACAGTGCCTGCCCAGGT	0.438													T	124359446	C	T	124359446	3	4	226	1	0	0	0	0	1	0	0	0	1071	739	26	2	2126	2	ATAD2	8	124359446	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	139842	124359446	22004576	160	114606											
TG	7038	broad.mit.edu	37	chr8	133980211	133980211	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaaaggccctgttccggaaGaaaggtgagcacttggagag	14	9	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:133980211G>T	uc003ytw.2	+	31	5900	c.5859G>T	c.(5857-5859)AAG>AAT	p.K1953N	TG_uc010mdw.2_Missense_Mutation_p.K712N|TG_uc011ljb.1_Missense_Mutation_p.K322N|TG_uc011ljc.1_Missense_Mutation_p.K107N|TG_uc010mdx.1_RNA	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1953	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TGTTCCGGAAGAAAGGTGAGC	0.473													T	133980211	G	T	133980211	3	4	226	1	0	0	0	0	1	0	0	0	15810	933	33	5	5981	5	TG	8	133980211	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	9620765	133980211	12383811	161	114607											
ZC3H3	23144	broad.mit.edu	37	chr8	144620387	144620387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggaggaggcagaggGgctggaggccttccacttgt	19	7	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr8:144620387G>A	uc003yyd.2	-	2	1179	c.1150C>T	c.(1150-1152)CCC>TCC	p.P384S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	384	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			GAGGCAGAGGGGCTGGAGGCC	0.657													A	144620387	G	A	144620387	3	1	226	1	0	0	0	0	1	0	0	0	17566	1232	43	4	1740	4	ZC3H3	8	144620387	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	10640176	144620387	1743635	162	114608											
CDC37L1	55664	broad.mit.edu	37	chr9	4697116	4697116	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtatgttgagtcgatgggatGatagccagagatttttgtct	13	4	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:4697116G>C	uc003zio.2	+	4	739	c.529G>C	c.(529-531)GAT>CAT	p.D177H		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	cell division cycle 37 homolog (S.	177	Self-association and interaction with Hsp90.					cytoplasm					0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TCGATGGGATGATAGCCAGAG	0.343													C	4697116	G	C	4697116	3	2	226	1	0	0	0	0	1	0	0	0	3069	1290	45	5	543	5	CDC37L1	9	4697116	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		4697116	136516315	163	114609											
RANBP6	26953	broad.mit.edu	37	chr9	6013104	6013104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attcatcctcatcttgcagaGacatctcaacctgttgatca	5	12	5	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:6013104G>C	uc003zjr.2	-	1	2515	c.2504C>G	c.(2503-2505)TCT>TGT	p.S835C	RANBP6_uc011lmf.1_Missense_Mutation_p.S483C|RANBP6_uc003zjs.2_Missense_Mutation_p.S423C	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	835	Potential.				protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTGCAGAGACATCTCAAC	0.348													C	6013104	G	C	6013104	3	2	226	1	0	0	0	0	1	0	0	0	13031	942	33	5	817	5	RANBP6	9	6013104	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1315988	6013104	135200327	164	114610											
SH3GL2	6456	broad.mit.edu	37	chr9	17795579	17795579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgccgagctctgtaCgactttgaacctgaaaatga	9	12	1	3	rs143422821		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:17795579C>T	uc003zna.2	+	9	1185	c.897C>T	c.(895-897)TAC>TAT	p.Y299Y	SH3GL2_uc011lmy.1_Silent_p.Y252Y	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	299	SH3.				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			skin(1)	1				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GAGCTCTGTACGACTTTGAAC	0.463													T	17795579	C	T	17795579	2	4	226	1	0	0	0	0	0	0	0	1	14251	547	19	1		1	SH3GL2	9	17795579	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	11782475	17795579	123417852	165	114611											
GRIN3A	116443	broad.mit.edu	37	chr9	104433073	104433073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggggtctagacagagttGgccagcagggcacaagcctt	14	10	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:104433073G>T	uc004bbp.1	-	3	2222	c.1621C>A	c.(1621-1623)CAA>AAA	p.Q541K	GRIN3A_uc004bbq.1_Missense_Mutation_p.Q541K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	541	Extracellular (Potential).				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			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		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)	AGACAGAGTTGGCCAGCAGGG	0.458													T	104433073	G	T	104433073	3	4	226	1	0	0	0	0	1	0	0	0	6783	1357	47	5	1754	5	GRIN3A	9	104433073	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	86637494	104433073	36780358	166	114612											
PTGR1	22949	broad.mit.edu	37	chr9	114348359	114348359	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttttccagatctttcCcatcagaaatggagtgcgtt	9	10	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:114348359C>G	uc004bfh.2	-	5	399	c.296G>C	c.(295-297)GGG>GCG	p.G99A	PTGR1_uc011lwr.1_Missense_Mutation_p.G99A|PTGR1_uc004bfi.3_Missense_Mutation_p.G99A|PTGR1_uc004bfj.3_5'UTR|PTGR1_uc010mue.2_Missense_Mutation_p.G99A	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	99					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0						CAGATCTTTCCCATCAGAAAT	0.463													G	114348359	C	G	114348359	3	3	226	1	0	0	0	0	1	0	0	0	12753	623	22	5	748	5	PTGR1	9	114348359	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	9915286	114348359	26865072	167	114613											
PHF19	26147	broad.mit.edu	37	chr9	123620386	123620386	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggacagggatgagtcatcttCactgatgctctcaaatgtgt	11	8	4	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:123620386C>T	uc004bks.1	-	15	1832	c.1579G>A	c.(1579-1581)GAA>AAA	p.E527K	PHF19_uc011lyf.1_Missense_Mutation_p.E318K|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						GAGTCATCTTCACTGATGCTC	0.587													T	123620386	C	T	123620386	3	4	226	1	0	0	0	0	1	0	0	0	11829	835	29	4	167	4	PHF19	9	123620386	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	9272027	123620386	17593045	168	114614											
PHF19	26147	broad.mit.edu	37	chr9	123620439	123620439	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtctggccgctcggggActgaagccccctctgcactg	12	16	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:123620439A>T	uc004bks.1	-	15	1779	c.1526T>A	c.(1525-1527)GTC>GAC	p.V509D	PHF19_uc011lyf.1_Missense_Mutation_p.V300D|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						CCGCTCGGGGACTGAAGCCCC	0.592													T	123620439	A	T	123620439	3	4	226	1	0	0	0	0	1	0	0	0	11829	275	10	5	220	5	PHF19	9	123620439	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	53	123620439	17592992	169	114615											
LHX2	9355	broad.mit.edu	37	chr9	126794769	126794769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacacgggcgtggacaAgtcgacagacgcggcgctgc	16	11	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:126794769A>T	uc004boe.1	+	5	1743	c.1004A>T	c.(1003-1005)AAG>ATG	p.K335M	LHX2_uc010mwi.1_Missense_Mutation_p.K343M	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	335						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGCGTGGACAAGTCGACAGAC	0.672													T	126794769	A	T	126794769	3	4	226	1	0	0	0	0	1	0	0	0	8771	72	3	5	1022	5	LHX2	9	126794769	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	3174330	126794769	14418662	170	114616											
MAPKAP1	79109	broad.mit.edu	37	chr9	128246724	128246724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcacacacttacctAgctgtacgtcggttgtgaat	8	12	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:128246724A>G	uc004bpv.2	-	9	1538	c.1205T>C	c.(1204-1206)CTA>CCA	p.L402P	MAPKAP1_uc011lzt.1_Missense_Mutation_p.L205P|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.L205P|MAPKAP1_uc011lzv.1_Missense_Mutation_p.L110P|MAPKAP1_uc004bpw.2_Missense_Mutation_p.L210P|MAPKAP1_uc004bpx.2_Missense_Mutation_p.L210P|MAPKAP1_uc004bpy.2_Missense_Mutation_p.L366P|MAPKAP1_uc004bpz.2_Intron|MAPKAP1_uc010mxa.2_RNA	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	402					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			ovary(2)|lung(2)	4						ACACTTACCTAGCTGTACGTC	0.448													G	128246724	A	G	128246724	3	3	226	1	0	0	0	0	1	0	0	0	9288	420	15	3	379	3	MAPKAP1	9	128246724	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	1451955	128246724	12966707	171	114617											
CERCAM	51148	broad.mit.edu	37	chr9	131186865	131186865	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggcctttcgacgacatcatCgtcttcgcctatgcctgcca	8	15	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:131186865C>A	uc004buz.3	+	5	1136	c.738C>A	c.(736-738)ATC>ATA	p.I246I	CERCAM_uc004buy.1_Silent_p.I168I|CERCAM_uc010mxz.2_Silent_p.I168I|CERCAM_uc010mya.1_Silent_p.I87I	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	246					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						ACGACATCATCGTCTTCGCCT	0.473													A	131186865	C	A	131186865	2	1	226	1	0	0	0	0	0	0	0	1	3266	874	31	5		5	CERCAM	9	131186865	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2940141	131186865	10026566	172	114618											
GTF3C5	9328	broad.mit.edu	37	chr9	135932246	135932246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccagcgacgagctcagGgacaccatgtccctcatgat	10	13	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:135932246G>A	uc004cci.3	+	10	1681	c.1344G>A	c.(1342-1344)AGG>AGA	p.R448R	GTF3C5_uc004ccj.3_Silent_p.R455R	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	448						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACGAGCTCAGGGACACCATGT	0.597													A	135932246	G	A	135932246	2	1	226	1	0	0	0	0	0	0	0	1	6876	1223	43	4		4	GTF3C5	9	135932246	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	4745381	135932246	5281185	173	114619											
FCN2	2220	broad.mit.edu	37	chr9	137778399	137778399	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgggggccttcgtggAgggcagtgcgggtgagtgtc	21	8	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:137778399A>T	uc004cfg.1	+	7	693	c.683A>T	c.(682-684)GAG>GTG	p.E228V	FCN2_uc004cfh.1_Missense_Mutation_p.E190V	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	228	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCCTTCGTGGAGGGCAGTGCG	0.557													T	137778399	A	T	137778399	3	4	226	1	0	0	0	0	1	0	0	0	5792	304	11	5	709	5	FCN2	9	137778399	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	1846153	137778399	3435032	174	114620											
CAMSAP1	157922	broad.mit.edu	37	chr9	138712788	138712788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcgggggccttcaggTcggagaggtccacttcaatg	14	12	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:138712788T>G	uc004cgr.3	-	11	3719	c.3719A>C	c.(3718-3720)GAC>GCC	p.D1240A	CAMSAP1_uc004cgq.3_Missense_Mutation_p.D1130A|CAMSAP1_uc010nbg.2_Missense_Mutation_p.D962A	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1240						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCCTTCAGGTCGGAGAGGTC	0.642													G	138712788	T	G	138712788	3	3	226	1	0	0	0	0	1	0	0	0	2611	1667	58	5	1117	5	CAMSAP1	9	138712788	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	934389	138712788	2500643	175	114621											
UBAC1	10422	broad.mit.edu	37	chr9	138825266	138825266	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtgcgatttagtgtctGgaagattctagagatctgca	11	7	3	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:138825266G>A	uc004cgt.2	-	10	1416	c.1198C>T	c.(1198-1200)CAG>TAG	p.Q400*	UBAC1_uc004cgs.1_Intron|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	400						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TTTAGTGTCTGGAAGATTCTA	0.572													A	138825266	G	A	138825266	4	1	226	1	0	0	0	0	0	1	0	0	16831	1357	47	4	23	4	UBAC1	9	138825266	Nonsense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	112478	138825266	2388165	176	114622											
MAN1B1	11253	broad.mit.edu	37	chr9	139995507	139995507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaagttacactttgaaaagGacgtggacgtcaacctgttt	10	7	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:139995507G>T	uc004cld.2	+	7	1002	c.967G>T	c.(967-969)GAC>TAC	p.D323Y	MAN1B1_uc004clc.2_Missense_Mutation_p.D224Y|MAN1B1_uc011meo.1_Missense_Mutation_p.D224Y|MAN1B1_uc011mep.1_Missense_Mutation_p.D323Y|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	323	Lumenal (Potential).				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			ovary(1)|central_nervous_system(1)	2	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)		CTTTGAAAAGGACGTGGACGT	0.512													T	139995507	G	T	139995507	3	4	226	1	0	0	0	0	1	0	0	0	9212	1174	41	5	993	5	MAN1B1	9	139995507	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1170241	139995507	1217924	177	114623											
PNPLA7	375775	broad.mit.edu	37	chr9	140435144	140435144	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggacgctgtctcccgccaGaacctctttcaccaccacct	7	18	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr9:140435144G>A	uc004cnf.2	-	7	959	c.622C>T	c.(622-624)CTG>TTG	p.L208L	PNPLA7_uc010ncj.1_Silent_p.L233L	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	208	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTCCCGCCAGAACCTCTTTC	0.701													A	140435144	G	A	140435144	2	1	226	1	0	0	0	0	0	0	0	1	12170	933	33	4		4	PNPLA7	9	140435144	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	439637	140435144	778287	178	114624											
NEBL	10529	broad.mit.edu	37	chr10	21101759	21101759	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtggacccctttataggcAgcatcgctgaccacctgggt	13	12	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:21101759A>C	uc001iqi.2	-	24	2854	c.2457T>G	c.(2455-2457)GCT>GCG	p.A819A	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Silent_p.A156A	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	819	Nebulin 23.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CTTTATAGGCAGCATCGCTGA	0.527													C	21101759	A	C	21101759	2	2	226	1	0	0	0	0	0	0	0	1	10303	175	7	5		5	NEBL	10	21101759	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08		21101759	114432988	179	114625											
YME1L1	10730	broad.mit.edu	37	chr10	27412510	27412510	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atacggctggctcccacaccCacaaacatctcatcaaattc	4	16	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:27412510C>G	uc001iti.2	-	11	1421	c.1239G>C	c.(1237-1239)GTG>GTC	p.V413V	YME1L1_uc001itj.2_Silent_p.V356V|YME1L1_uc010qdl.1_Silent_p.V323V|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	413					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						CTCCCACACCCACAAACATCT	0.443													G	27412510	C	G	27412510	2	3	226	1	0	0	0	0	0	0	0	1	17484	581	21	5		5	YME1L1	10	27412510	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6310751	27412510	108122237	180	114626											
GPRIN2	9721	broad.mit.edu	37	chr10	46999887	46999887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcagcccaggatgctgGtgtgcaggcggccccagtgg	17	12	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:46999887G>T	uc001jec.2	+	3	1142	c.1007G>T	c.(1006-1008)GGT>GTT	p.G336V	GPRIN2_uc010qfq.1_Missense_Mutation_p.G99V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	336											0						CAGGATGCTGGTGTGCAGGCG	0.647													T	46999887	G	T	46999887	3	4	226	1	0	0	0	0	1	0	0	0	6730	1261	44	5	1009	5	GPRIN2	10	46999887	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	19587377	46999887	88534860	181	114627											
OGDHL	55753	broad.mit.edu	37	chr10	50948874	50948874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtcatggagaacatgGtgccggtgactgcagagaca	14	9	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:50948874G>T	uc001jie.2	-	16	2164	c.2022C>A	c.(2020-2022)CAC>CAA	p.H674Q	OGDHL_uc009xog.2_Missense_Mutation_p.H701Q|OGDHL_uc010qgt.1_Missense_Mutation_p.H617Q|OGDHL_uc010qgu.1_Missense_Mutation_p.H465Q	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	674					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGAGAACATGGTGCCGGTGAC	0.637													T	50948874	G	T	50948874	3	4	226	1	0	0	0	0	1	0	0	0	10840	1252	44	5	1042	5	OGDHL	10	50948874	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3948987	50948874	84585873	182	114628											
PAPSS2	9060	broad.mit.edu	37	chr10	89501024	89501040	+	Frame_Shift_Del	DEL	TGGAGACCTTCAGGTGC	TGGAGACCTTCAGGTGC	-													agtggggactggctggttggTggagaccttcaggtgctgga					rs113541817		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:89501023_89501039GTGGAGACCTTCAGGTGC>G	uc001kex.3	+	8	1366_1382	c.1103_1119GTGGAGACCTTCAGGTGC>G	c.(1102-1119)ggtggagaccttcaggtgfs	p.G368fs	PAPSS2_uc001kew.3_Frame_Shift_Del_p.G373fs	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	368					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|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)		TGGCTGGTTGGTGGAGACCTTCAGGTGCTGGAGAAAA	0.401													-	89501040	TGGAGACCTTCAGGTGC	-	89501024	7	5	226	1	0	1	0	1	0	0	0	0	11435	1683	59	0	1157	0	PAPSS2	10	89501024	Frame_Shift_Del	DEL	TGGAGACCTTCAGGTGC	TCGA-D7-A4YT-01A-11D-A25D-08	38552150	89501024	46033723	183	114629											
NDUFB8	4714	broad.mit.edu	37	chr10	102289218	102289218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcggcccgttcttctgggGtcctaggatagggccccggg	17	13	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:102289218G>T	uc001kri.1	-	2	159	c.131C>A	c.(130-132)ACC>AAC	p.T44N	SEC31B_uc009xwo.1_5'UTR|SEC31B_uc010qpq.1_5'UTR|SEC31B_uc010qpr.1_RNA	NM_005004	NP_004995	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	44				T -> I (in Ref. 4 and 5).	mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	TTCTTCTGGGGTCCTAGGATA	0.582													T	102289218	G	T	102289218	3	4	226	1	0	0	0	0	1	0	0	0	10287	1261	44	5	445	5	NDUFB8	10	102289218	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	12788194	102289218	33245529	184	114630											
PPRC1	23082	broad.mit.edu	37	chr10	103899167	103899167	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccagcagctggtgatgagaGcatctcctccctgagtgagc	13	12	1	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:103899167G>C	uc001kum.2	+	5	941	c.902G>C	c.(901-903)AGC>ACC	p.S301T	PPRC1_uc001kun.2_Missense_Mutation_p.S181T|PPRC1_uc010qqj.1_Missense_Mutation_p.S301T|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGTGATGAGAGCATCTCCTCC	0.587													C	103899167	G	C	103899167	3	2	226	1	0	0	0	0	1	0	0	0	12410	971	34	5	920	5	PPRC1	10	103899167	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1609949	103899167	31635580	185	114631											
SORCS3	22986	broad.mit.edu	37	chr10	107005390	107005390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggctgctgggaatgccCtcatccaggacacaaaagag	13	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:107005390C>A	uc001kyi.1	+	21	3186	c.2959C>A	c.(2959-2961)CTC>ATC	p.L987I	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	987	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		TGGGAATGCCCTCATCCAGGA	0.498													A	107005390	C	A	107005390	3	1	226	1	0	0	0	0	1	0	0	0	14932	681	24	5	3041	5	SORCS3	10	107005390	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3106223	107005390	28529357	186	114632											
GPAM	57678	broad.mit.edu	37	chr10	113933596	113933596	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccacttctgcaattgcctCttgtactctggtatgaaaat	7	10	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:113933596C>A	uc009xxy.1	-	7	619	c.421G>T	c.(421-423)GAG>TAG	p.E141*	GPAM_uc001kzp.2_Nonsense_Mutation_p.E141*|GPAM_uc001kzq.1_Nonsense_Mutation_p.E141*	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	141					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		GCAATTGCCTCTTGTACTCTG	0.363													A	113933596	C	A	113933596	4	1	226	1	0	0	0	0	0	1	0	0	6588	922	32	5	2129	5	GPAM	10	113933596	Nonsense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6928206	113933596	21601151	187	114633											
DOCK1	1793	broad.mit.edu	37	chr10	129237406	129237406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaaaaaaggaacagcAaacatcaagagatatttgag	10	4	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr10:129237406A>C	uc001ljt.2	+	49	5177	c.5113A>C	c.(5113-5115)AAA>CAA	p.K1705Q	DOCK1_uc010qun.1_Missense_Mutation_p.K1726Q|DOCK1_uc009yaq.2_Missense_Mutation_p.K700Q	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1705					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			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		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)		aaggaaCAGCAAACATCAAGA	0.388													C	129237406	A	C	129237406	3	2	226	1	0	0	0	0	1	0	0	0	4684	131	5	5	5307	5	DOCK1	10	129237406	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	15303810	129237406	6297341	188	114634											
OR51G2	81282	broad.mit.edu	37	chr11	4936194	4936194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatctctcagccctggaggCgatggacagcacggtgcgca	14	12	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:4936194C>T	uc001lzr.1	-	1	700	c.700G>A	c.(700-702)GCC>ACC	p.A234T		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		GCCCTGGAGGCGATGGACAGC	0.522													T	4936194	C	T	4936194	3	4	226	1	0	0	0	0	1	0	0	0	11099	768	27	1	248	1	OR51G2	11	4936194	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08		4936194	130070322	189	114635											
EIF3F	8665	broad.mit.edu	37	chr11	8009235	8009235	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgagagacgcaacgagggTgctgcccgagttatcgggac	15	10	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:8009235T>G	uc001mfw.2	+	1	369	c.336T>G	c.(334-336)GGT>GGG	p.G112G	EIF3F_uc010rbj.1_5'UTR	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	112	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAACGAGGGTGCTGCCCGAG	0.557											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	8009235	T	G	8009235	2	3	226	1	0	0	0	0	0	0	0	1	5016	1683	59	5		5	EIF3F	11	8009235	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	3073041	8009235	126997281	190	114636											
RCN1	5954	broad.mit.edu	37	chr11	32124954	32124972	+	Frame_Shift_Del	DEL	GATCCTCCCTCAAGATTAT	GATCCTCCCTCAAGATTAT	-													aaagatgagattcgccactgGatcctccctcaagattatga					rs139483311	byFrequency	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:32124954_32124972delGATCCTCCCTCAAGATTAT	uc010reb.1	+	5	1082_1100	c.816_834delGATCCTCCCTCAAGATTAT	c.(814-834)TGGATCCTCCCTCAAGATTATfs	p.W272fs	RCN1_uc010rea.1_Frame_Shift_Del_p.W221fs|RCN1_uc001mtk.2_Frame_Shift_Del_p.W106fs	NM_002901	NP_002892	Q15293	RCN1_HUMAN	reticulocalbin 1 precursor	272_278	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding			large_intestine(1)	1	Lung SC(675;0.225)					TTCGCCACTGGATCCTCCCTCAAGATTATGATCATGCAC	0.461													-	32124972	GATCCTCCCTCAAGATTAT	-	32124954	7	5	226	1	0	1	0	1	0	0	0	0	13179	1183	41	0	834	0	RCN1	11	32124954	Frame_Shift_Del	DEL	GATCCTCCCTCAAGATTAT	TCGA-D7-A4YT-01A-11D-A25D-08	24115719	32124954	102881562	191	114637											
C11orf84	144097	broad.mit.edu	37	chr11	63585493	63585493	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacatcttggagcagcaccCtcacaccttggacctgagcc	9	16	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:63585493C>G	uc001nxt.2	+	2	580	c.344C>G	c.(343-345)CCT>CGT	p.P115R		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	115											0						GAGCAGCACCCTCACACCTTG	0.642													G	63585493	C	G	63585493	3	3	226	1	0	0	0	0	1	0	0	0	1667	681	24	5	350	5	C11orf84	11	63585493	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	31460539	63585493	71421023	192	114638											
FAT3	120114	broad.mit.edu	37	chr11	92085453	92085453	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgagaactcagcagcaAggacctacgtcaacagccag	10	11	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:92085453A>T	uc001pdj.3	+	1	192	c.175A>T	c.(175-177)AGG>TGG	p.R59W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	59	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCAGCAGCAAGGACCTACGT	0.493										TCGA Ovarian(4;0.039)			T	92085453	A	T	92085453	3	4	226	1	0	0	0	0	1	0	0	0	5691	63	3	5	177	5	FAT3	11	92085453	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	28499960	92085453	42921063	193	114639											
USP28	57646	broad.mit.edu	37	chr11	113704991	113704991	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtatgacttcgacaattttCaagtacattttgtggcagac	8	7	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:113704991C>A	uc001poh.2	-	6	634	c.601G>T	c.(601-603)GAA>TAA	p.E201*	USP28_uc010rwy.1_Nonsense_Mutation_p.E76*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.E201*|USP28_uc010rwz.1_Nonsense_Mutation_p.E201*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	201					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			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		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)		CGACAATTTTCAAGTACATTT	0.368													A	113704991	C	A	113704991	4	1	226	1	0	0	0	0	0	1	0	0	17055	835	29	5	2712	5	USP28	11	113704991	Nonsense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	21619538	113704991	21301525	194	114640											
DSCAML1	57453	broad.mit.edu	37	chr11	117335803	117335803	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccccgtggccttcatctcCacgatgctgtactgcccgtt	8	17	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:117335803C>A	uc001prh.1	-	17	3302	c.3300G>T	c.(3298-3300)GTG>GTT	p.V1100V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1040	Extracellular (Potential).|Fibronectin type-III 2.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		CCTTCATCTCCACGATGCTGT	0.602													A	117335803	C	A	117335803	2	1	226	1	0	0	0	0	0	0	0	1	4769	581	21	5		5	DSCAML1	11	117335803	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3630812	117335803	17670713	195	114641											
TRAPPC4	51399	broad.mit.edu	37	chr11	118889967	118889967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taattacccggtgtccattcGatttggccggccccgcctca	9	15	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:118889967G>T	uc010ryo.1	+	2	555	c.290G>T	c.(289-291)CGA>CTA	p.R97L	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.R97L|TRAPPC4_uc010ryp.1_Intron|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.R97L	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	97					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GTGTCCATTCGATTTGGCCGG	0.557													T	118889967	G	T	118889967	3	4	226	1	0	0	0	0	1	0	0	0	16458	1058	37	5	296	5	TRAPPC4	11	118889967	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1554164	118889967	16116549	196	114642											
C11orf63	79864	broad.mit.edu	37	chr11	122775027	122775027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccgggatcacgtggccctCggcgaaggaaatccaaacaa	12	12	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:122775027C>T	uc001pym.2	+	3	1036	c.739C>T	c.(739-741)CGG>TGG	p.R247W	C11orf63_uc001pyl.1_Missense_Mutation_p.R247W	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	247										ovary(3)	3		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)		ACGTGGCCCTCGGCGAAGGAA	0.478													T	122775027	C	T	122775027	3	4	226	1	0	0	0	0	1	0	0	0	1654	875	31	1	745	1	C11orf63	11	122775027	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3885060	122775027	12231489	197	114643											
FAM118B	79607	broad.mit.edu	37	chr11	126110710	126110710	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttccaagcttaaaaaCtaagaagcctcgagaacttg	8	10	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:126110710C>G	uc001qdf.2	+	4	293	c.110C>G	c.(109-111)ACT>AGT	p.T37S	FAM118B_uc009zca.2_Missense_Mutation_p.T41S|FAM118B_uc001qdg.2_Missense_Mutation_p.T37S	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	37											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AGCTTAAAAACTAAGAAGCCT	0.443													G	126110710	C	G	126110710	3	3	226	1	0	0	0	0	1	0	0	0	5412	565	20	5	116	5	FAM118B	11	126110710	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3335683	126110710	8895806	198	114644											
GLB1L2	89944	broad.mit.edu	37	chr11	134240919	134240919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccaatcaagtctgaaaaGcccatcaacatggagaacct	7	12	3	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr11:134240919G>A	uc001qhp.2	+	13	1421	c.1233G>A	c.(1231-1233)AAG>AAA	p.K411K	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	411					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		AGTCTGAAAAGCCCATCAACA	0.562													A	134240919	G	A	134240919	2	1	226	1	0	0	0	0	0	0	0	1	6429	962	34	2		2	GLB1L2	11	134240919	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	8130209	134240919	765597	199	114645											
MFAP5	8076	broad.mit.edu	37	chr12	8808404	8808404	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttctgtgaatgtttcTggagtcgcttgagtcacatc	11	8	4	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:8808404T>G	uc001qut.1	-	4	330	c.117A>C	c.(115-117)CCA>CCC	p.P39P	MFAP5_uc001qus.2_Silent_p.P39P|MFAP5_uc009zge.1_Silent_p.P39P	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5 precursor	39						microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)					TGAATGTTTCTGGAGTCGCTT	0.343													G	8808404	T	G	8808404	2	3	226	1	0	0	0	0	0	0	0	1	9518	1567	55	5		5	MFAP5	12	8808404	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08		8808404	125043491	200	114646											
CACNB3	784	broad.mit.edu	37	chr12	49221573	49221573	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acacacctcggggctgcctaGtgctaacgggcatgaccccc	11	16	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:49221573G>C	uc001rsl.1	+	13	1547	c.1346G>C	c.(1345-1347)AGT>ACT	p.S449T	CACNB3_uc010sly.1_Missense_Mutation_p.S436T|CACNB3_uc010slz.1_Missense_Mutation_p.S448T|CACNB3_uc001rsk.1_Missense_Mutation_p.S296T	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	449					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)	GGGCTGCCTAGTGCTAACGGG	0.622													C	49221573	G	C	49221573	3	2	226	1	0	0	0	0	1	0	0	0	2554	1029	36	5	1396	5	CACNB3	12	49221573	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	40413169	49221573	84630322	201	114647											
ACCN2	41	broad.mit.edu	37	chr12	50471146	50471146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgtggggggagactGgtacgtcacccacttcaggg	16	10	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:50471146G>A	uc001rvw.2	+	4	938	c.709G>A	c.(709-711)GAC>AAC	p.D237N	ACCN2_uc001rvv.2_Missense_Mutation_p.D237N|ACCN2_uc009zln.2_Missense_Mutation_p.D28N|ACCN2_uc009zlo.2_Missense_Mutation_p.D237N	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	237	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	GGGGGAGACTGGTACGTCACC	0.657													A	50471146	G	A	50471146	3	1	226	1	0	0	0	0	1	0	0	0	129	1362	47	4	719	4	ACCN2	12	50471146	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1249573	50471146	83380749	202	114648											
LASS5	91012	broad.mit.edu	37	chr12	50560935	50560935	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgccgccagcgggaacaccGagaggatgtgccggccgcgg	17	15	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:50560935G>C	uc001rwd.3	-	1	163	c.146C>G	c.(145-147)TCG>TGG	p.S49W	LASS5_uc001rwe.3_5'UTR|LASS5_uc001rwf.3_RNA|LASS5_uc010smq.1_5'UTR	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	LAG1 homolog, ceramide synthase 5	49	Helical; (Potential).				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0						CGGGAACACCGAGAGGATGTG	0.607													C	50560935	G	C	50560935	3	2	226	1	0	0	0	0	1	0	0	0	8642	1059	37	5	1072	5	LASS5	12	50560935	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	89789	50560935	83290960	203	114649											
SCN8A	6334	broad.mit.edu	37	chr12	52200766	52200766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgagctcatcgctatGgatctgccaatggtgagcgg	12	10	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:52200766G>A	uc001ryw.2	+	27	5674	c.5496G>A	c.(5494-5496)ATG>ATA	p.M1832I		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1832					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCATCGCTATGGATCTGCCAA	0.552													A	52200766	G	A	52200766	3	1	226	1	0	0	0	0	1	0	0	0	13924	1348	47	4	5598	4	SCN8A	12	52200766	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1639831	52200766	81651129	204	114650											
HOXC9	3225	broad.mit.edu	37	chr12	54394041	54394041	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcacgacaatgaagacctCctagcgtccaggtttccggc	9	14	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:54394041C>T	uc001sep.2	+	2	167	c.69C>T	c.(67-69)CTC>CTT	p.L23L	HOXC9_uc001seq.2_Silent_p.L23L	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	23					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						ATGAAGACCTCCTAGCGTCCA	0.572													T	54394041	C	T	54394041	2	4	226	1	0	0	0	0	0	0	0	1	7317	842	30	4		4	HOXC9	12	54394041	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2193275	54394041	79457854	205	114651											
INHBC	3626	broad.mit.edu	37	chr12	57828874	57828875	+	Frame_Shift_Del	DEL	AG	AG	-													cactgaaccgccctgtgtccAgagctgctttgaggactgca							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:57828873_57828874CAG>C	uc001snv.1	+	0	331_332	c.204_205CAG>C	c.(202-207)tccagafs	p.S68fs		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	68					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCCCTGTGTCCAGAGCTGCTTT	0.574													-	57828875	AG	-	57828874	7	5	226	1	0	1	0	1	0	0	0	0	7743	180	7	0	207	0	INHBC	12	57828874	Frame_Shift_Del	DEL	AG	TCGA-D7-A4YT-01A-11D-A25D-08	3434833	57828874	76023021	206	114652											
SYT1	6857	broad.mit.edu	37	chr12	79693214	79693214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgatggctgtatatgaTtttgatcgtttctctaagca	9	6	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:79693214T>C	uc001sys.2	+	9	1364	c.693T>C	c.(691-693)GAT>GAC	p.D231D	SYT1_uc001syt.2_Silent_p.D231D|SYT1_uc001syu.2_Silent_p.D228D|SYT1_uc001syv.2_Silent_p.D231D	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	231	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.	Calcium 2 (By similarity).|Calcium 1 (By similarity).			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			skin(3)|pancreas(2)|ovary(1)	6						CTGTATATGATTTTGATCGTT	0.383													C	79693214	T	C	79693214	2	2	226	1	0	0	0	0	0	0	0	1	15462	1490	52	3		3	SYT1	12	79693214	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	21864340	79693214	54158681	207	114653											
PPP1R12A	4659	broad.mit.edu	37	chr12	80214680	80214680	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agattcaatacgggatgcatTtttctctggttcaataatca	7	7	4	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:80214680T>G	uc001syz.2	-	8	1255	c.988A>C	c.(988-990)AAT>CAT	p.N330H	PPP1R12A_uc010suc.1_Missense_Mutation_p.N243H|PPP1R12A_uc001sza.2_Missense_Mutation_p.N330H|PPP1R12A_uc010sud.1_Missense_Mutation_p.N330H|PPP1R12A_uc001szb.2_Missense_Mutation_p.N330H|PPP1R12A_uc001szc.2_Missense_Mutation_p.N330H	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	330						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						CGGGATGCATTTTTCTCTGGT	0.353													G	80214680	T	G	80214680	3	3	226	1	0	0	0	0	1	0	0	0	12354	1841	64	5	2176	5	PPP1R12A	12	80214680	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	521466	80214680	53637215	208	114654											
SSH1	54434	broad.mit.edu	37	chr12	109182012	109182012	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtggggaagagacggTgaggcccgccagccggagcc	17	12	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:109182012T>A	uc001tnm.2	-	15	2989	c.2902A>T	c.(2902-2904)ACC>TCC	p.T968S	SSH1_uc001tnl.2_Missense_Mutation_p.T656S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	968	Interaction with YWHAG.				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			ovary(4)	4						GAAGAGACGGTGAGGCCCGCC	0.632													A	109182012	T	A	109182012	3	1	226	1	0	0	0	0	1	0	0	0	15183	1696	59	5	251	5	SSH1	12	109182012	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	28967332	109182012	24669883	209	114655											
TCHP	84260	broad.mit.edu	37	chr12	110341905	110341905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggaaagaagaatccggGagcagcacgggaagctgaaa	15	7	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:110341905G>A	uc001tpn.2	+	3	505	c.352G>A	c.(352-354)GAG>AAG	p.E118K	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.E118K	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	118	Glu-rich.|Potential.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						AAGAATCCGGGAGCAGCACGG	0.572													A	110341905	G	A	110341905	3	1	226	1	0	0	0	0	1	0	0	0	15699	1175	41	4	358	4	TCHP	12	110341905	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1159893	110341905	23509990	210	114656											
GCN1L1	10985	broad.mit.edu	37	chr12	120586045	120586071	+	In_Frame_Del	DEL	TGGGAGTCGGTCAGCACCTCCGTAAGC	TGGGAGTCGGTCAGCACCTCCGTAAGC	-													cagccttctggactttgacaTgggagtcggtcagcacctcc							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr12:120586044_120586070ATGGGAGTCGGTCAGCACCTCCGTAAGC>A	uc001txo.3	-	36	4640_4666	c.4627_4653GCTTACGGAGGTGCTGACCGACTCCCAT>T	c.(4627-4653)cttacggaggtgctgaccgactcccat>T	p.LTEVLTDSH1543del		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1543					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.K1542Q(1)		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)					GGACTTTGACATGGGAGTCGGTCAGCACCTCCGTAAGCTTGGGCACA	0.577													-	120586071	TGGGAGTCGGTCAGCACCTCCGTAAGC	-	120586045	7	5	226	1	0	1	0	1	0	0	0	0	6299	1464	51	0	3451	0	GCN1L1	12	120586045	In_Frame_Del	DEL	TGGGAGTCGGTCAGCACCTCCGTAAGC	TCGA-D7-A4YT-01A-11D-A25D-08	10244140	120586045	13265850	211	114657											
SACS	26278	broad.mit.edu	37	chr13	23912295	23912295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatgaacgtggtattccatCgtccttttgtatctgttttc	7	9	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr13:23912295C>T	uc001uon.2	-	10	6309	c.5720G>A	c.(5719-5721)CGA>CAA	p.R1907Q	SACS_uc001uoo.2_Missense_Mutation_p.R1760Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1907					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GGTATTCCATCGTCCTTTTGT	0.403													T	23912295	C	T	23912295	3	4	226	1	0	0	0	0	1	0	0	0	13804	884	31	1	8023	1	SACS	13	23912295	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08		23912295	91257583	212	114658											
BRCA2	675	broad.mit.edu	37	chr13	32913837	32913838	+	Frame_Shift_Ins	INS	-	-	A													ttgaagaatgttgaagatcaINSaaaaaacactagtttttcca					rs80358757		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr13:32913836_32913837C>CA	uc001uub.1	+	10	5571_5572	c.5344_5345C>CA	c.(5344-5346)caafs	p.Q1782fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1782					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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.N1784fs*7(1)		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)		TGTTGAAGATCAAAAAAACACT	0.322			"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)			A	32913838	-	A	32913837	7	5	226	1	0	1	1	0	0	0	0	0	1499	130	5	0	5383	0	BRCA2	13	32913837	Frame_Shift_Ins	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08	9001542	32913837	82256041	213	114659											
POSTN	10631	broad.mit.edu	37	chr13	38154009	38154009	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccacttacgtatcagaattTctttttcttcactagtcatt	3	10	5	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr13:38154009T>A	uc001uwo.3	-	12	1767	c.1649A>T	c.(1648-1650)GAA>GTA	p.E550V	POSTN_uc010tet.1_Missense_Mutation_p.E78V|POSTN_uc001uwp.3_Missense_Mutation_p.E550V|POSTN_uc001uwr.2_Missense_Mutation_p.E550V|POSTN_uc001uwq.2_Missense_Mutation_p.E550V|POSTN_uc010teu.1_Missense_Mutation_p.E550V|POSTN_uc010tev.1_Missense_Mutation_p.E550V|POSTN_uc010tew.1_Missense_Mutation_p.E550V|POSTN_uc010tex.1_Missense_Mutation_p.E465V	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	550	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		TATCAGAATTTCTTTTTCTTC	0.403													A	38154009	T	A	38154009	3	1	226	1	0	0	0	0	1	0	0	0	12259	1783	62	5	909	5	POSTN	13	38154009	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	5240172	38154009	77015869	214	114660											
HTR2A	3356	broad.mit.edu	37	chr13	47409208	47409208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtactgacactgaatatAccgtgaaaaggctgacctat	8	9	0	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr13:47409208A>G	uc001vbq.2	-	3	1314	c.1180T>C	c.(1180-1182)TAT>CAT	p.Y394H	HTR2A_uc001vbr.2_Missense_Mutation_p.Y294H|HTR2A_uc010acr.2_Missense_Mutation_p.Y394H	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	394	Cytoplasmic (By similarity).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		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)	CACTGAATATACCGTGAAAAG	0.418													G	47409208	A	G	47409208	3	3	226	1	0	0	0	0	1	0	0	0	7441	391	14	3	239	3	HTR2A	13	47409208	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	9255199	47409208	67760670	215	114661											
SLITRK1	114798	broad.mit.edu	37	chr13	84454661	84454661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtttgttcctggagctacCcgtcgctatcgctgctgtgg	14	11	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr13:84454661C>A	uc001vlk.2	-	1	1868	c.982G>T	c.(982-984)GGT>TGT	p.G328C		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	328	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTGGAGCTACCCGTCGCTATC	0.547													A	84454661	C	A	84454661	3	1	226	1	0	0	0	0	1	0	0	0	14742	623	22	5	1112	5	SLITRK1	13	84454661	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	37045453	84454661	30715217	216	114662											
TEP1	7011	broad.mit.edu	37	chr14	20845494	20845494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtcctagcacaggcttctgGaatctggacaggagccagag	13	10	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:20845494G>T	uc001vxe.2	-	41	6073	c.6033C>A	c.(6031-6033)TTC>TTA	p.F2011L	TEP1_uc010ahk.2_Missense_Mutation_p.F1354L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.F1903L|TEP1_uc010tlh.1_Missense_Mutation_p.F349L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2011	WD 10.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		CAGGCTTCTGGAATCTGGACA	0.527													T	20845494	G	T	20845494	3	4	226	1	0	0	0	0	1	0	0	0	15756	1165	41	5	1910	5	TEP1	14	20845494	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		20845494	86504046	217	114663											
OR5AU1	390445	broad.mit.edu	37	chr14	21623524	21623524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgacgacatgagcacCgcagaatttcagactaaaga	11	8	1	6			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:21623524C>T	uc010tlp.1	-	1	661	c.661G>A	c.(661-663)GGT>AGT	p.G221S		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU,	221	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ACATGAGCACCGCAGAATTTC	0.498													T	21623524	C	T	21623524	3	4	226	1	0	0	0	0	1	0	0	0	11147	652	23	1	430	1	OR5AU1	14	21623524	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	778030	21623524	85726016	218	114664											
FOXG1	2290	broad.mit.edu	37	chr14	29237814	29237814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccgcgtcctcctccacGtcgccgcaggccccctcgac	11	21	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:29237814G>A	uc001wqe.2	+	1	1528	c.1329G>A	c.(1327-1329)ACG>ACA	p.T443T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	443					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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCCTCCACGTCGCCGCAGG	0.607													A	29237814	G	A	29237814	2	1	226	1	0	0	0	0	0	0	0	1	6007	1132	40	1		1	FOXG1	14	29237814	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	7614290	29237814	78111726	219	114665											
HEATR5A	25938	broad.mit.edu	37	chr14	31819924	31819924	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgttccaatataagaagcCtacaatcagaaataacagga	7	8	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:31819924C>A	uc001wrf.3	-	11	1610	c.1533_splice	c.e11-1	p.R511_splice	HEATR5A_uc010ami.2_Splice_Site_p.R409_splice|HEATR5A_uc001wrg.1_Splice_Site_p.R393_splice|HEATR5A_uc010tpk.1_Splice_Site_p.R804_splice	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A								binding			ovary(1)	1	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)		TATAAGAAGCCTACAATCAGA	0.259													A	31819924	C	A	31819924	5	1	226	1	0	0	0	0	0	0	1	0	7031	695	24	5	3809	5	HEATR5A	14	31819924	Splice_Site	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2582110	31819924	75529616	220	114666											
MIPOL1	145282	broad.mit.edu	37	chr14	37754628	37754628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaattgcacgagccaAgcatatggaaatgtctctaa	9	8	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:37754628A>G	uc001wuc.2	+	8	1102	c.599A>G	c.(598-600)AAG>AGG	p.K200R	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.K169R|MIPOL1_uc001wud.2_Missense_Mutation_p.K200R|MIPOL1_uc010ams.2_Missense_Mutation_p.K200R|MIPOL1_uc001wue.2_Missense_Mutation_p.K169R|MIPOL1_uc010amt.2_Missense_Mutation_p.K19R	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	200	Potential.									ovary(1)|central_nervous_system(1)	2	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)		GCACGAGCCAAGCATATGGAA	0.373													G	37754628	A	G	37754628	3	3	226	1	0	0	0	0	1	0	0	0	9593	72	3	3	617	3	MIPOL1	14	37754628	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	5934704	37754628	69594912	221	114667											
C14orf166	51637	broad.mit.edu	37	chr14	52471144	52471144	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagaggagctcagagagctAcagacaaaaatcaacgaagc	10	8	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:52471144A>G	uc010aod.2	+	8	775	c.645A>G	c.(643-645)CTA>CTG	p.L215L	C14orf166_uc001wzm.3_Silent_p.L81L|C14orf166_uc001wzn.3_Silent_p.L77L	NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	215						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)					TCAGAGAGCTACAGACAAAAA	0.413													G	52471144	A	G	52471144	2	3	226	1	0	0	0	0	0	0	0	1	1756	378	14	3		3	C14orf166	14	52471144	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	14716516	52471144	54878396	222	114668											
KIAA0586	9786	broad.mit.edu	37	chr14	58953857	58953857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggatcatgatatggcttttCctgtgaaagaaatatgtgct	10	6	1	3	rs77810875		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:58953857C>T	uc001xdv.3	+	21	3322	c.3049C>T	c.(3049-3051)CCT>TCT	p.P1017S	KIAA0586_uc010trr.1_Missense_Mutation_p.P1134S|KIAA0586_uc001xdt.3_Missense_Mutation_p.P1049S|KIAA0586_uc001xdu.3_Missense_Mutation_p.P1078S|KIAA0586_uc010trs.1_Missense_Mutation_p.P1008S|KIAA0586_uc010trt.1_Missense_Mutation_p.P953S|KIAA0586_uc010tru.1_Missense_Mutation_p.P953S	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1017										ovary(1)	1						TATGGCTTTTCCTGTGAAAGA	0.368													T	58953857	C	T	58953857	3	4	226	1	0	0	0	0	1	0	0	0	8186	855	30	4	3131	4	KIAA0586	14	58953857	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6482713	58953857	48395683	223	114669											
ZBTB1	22890	broad.mit.edu	37	chr14	64990077	64990077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcagtttttaagagagCgtcagttgcgactgcacaat	11	7	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:64990077C>T	uc001xhh.3	+	4	2286	c.1855C>T	c.(1855-1857)CGT>TGT	p.R619C	ZBTB1_uc010aqg.2_Missense_Mutation_p.R619C|ZBTB1_uc001xhi.2_Missense_Mutation_p.R619C	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	619	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		TTTAAGAGAGCGTCAGTTGCG	0.403													T	64990077	C	T	64990077	3	4	226	1	0	0	0	0	1	0	0	0	17519	768	27	1	1857	1	ZBTB1	14	64990077	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6036220	64990077	42359463	224	114670											
SPTB	6710	broad.mit.edu	37	chr14	65268106	65268106	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttcagcttatcaaagtcGatcaggtcgggcctggggac	12	11	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:65268106G>A	uc001xht.2	-	6	714	c.660C>T	c.(658-660)ATC>ATT	p.I220I	SPTB_uc001xhr.2_Silent_p.I220I|SPTB_uc001xhs.2_Silent_p.I220I|SPTB_uc001xhu.2_Silent_p.I220I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	220	Actin-binding.|CH 2.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		TATCAAAGTCGATCAGGTCGG	0.582											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65268106	G	A	65268106	2	1	226	1	0	0	0	0	0	0	0	1	15117	1048	37	1		1	SPTB	14	65268106	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	278029	65268106	42081434	225	114671											
C14orf115	55237	broad.mit.edu	37	chr14	74825436	74825436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatgatcgctaccacgaaGttcaaggcccaggccaagct	10	13	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:74825436G>T	uc001xpw.3	+	2	2141	c.1950G>T	c.(1948-1950)AAG>AAT	p.K650N		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	650					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CTACCACGAAGTTCAAGGCCC	0.612													T	74825436	G	T	74825436	3	4	226	1	0	0	0	0	1	0	0	0	1740	1020	36	5	1952	5	C14orf115	14	74825436	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	9557330	74825436	32524104	226	114672											
TMED8	283578	broad.mit.edu	37	chr14	77809767	77809767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgcccagcttgctttTgaattccttcaccttggcaa	6	13	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:77809767T>C	uc001xto.1	-	5	514	c.514A>G	c.(514-516)AAA>GAA	p.K172E	TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.K16E	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	172	GOLD.				transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGCTTGCTTTTGAATTCCTTC	0.537													C	77809767	T	C	77809767	3	2	226	1	0	0	0	0	1	0	0	0	16008	1821	63	3	470	3	TMED8	14	77809767	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	2984331	77809767	29539773	227	114673											
C14orf174	161394	broad.mit.edu	37	chr14	77857387	77857387	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcaggagctcctggaaattGaagagccattattcaaacgc	10	10	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:77857387G>A	uc001xtq.1	+	3	1825	c.1825G>A	c.(1825-1827)GAA>AAA	p.E609K		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	609											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		CCTGGAAATTGAAGAGCCATT	0.383													A	77857387	G	A	77857387	3	1	226	1	0	0	0	0	1	0	0	0	1759	1291	45	4	1835	4	C14orf174	14	77857387	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	47620	77857387	29492153	228	114674											
TTC7B	145567	broad.mit.edu	37	chr14	91044497	91044497	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggctgatggctaaggcctCttcataccaccgccgcgcct	12	15	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:91044497C>G	uc001xyp.2	-	19	2385	c.2263G>C	c.(2263-2265)GAG>CAG	p.E755Q	TTC7B_uc001xyo.2_Missense_Mutation_p.E199Q|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	755	TPR 9.						binding			ovary(2)	2		Melanoma(154;0.222)				GCTAAGGCCTCTTCATACCAC	0.632													G	91044497	C	G	91044497	3	3	226	1	0	0	0	0	1	0	0	0	16710	922	32	5	276	5	TTC7B	14	91044497	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	13187110	91044497	16305043	229	114675											
JAG2	3714	broad.mit.edu	37	chr14	105609319	105609319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagagcacgtccttgtGgccccccggccgctcaatgg	13	15	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr14:105609319G>A	uc001yqg.2	-	26	3834	c.3430C>T	c.(3430-3432)CAC>TAC	p.H1144Y	JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.H548Y|JAG2_uc001yqh.2_Missense_Mutation_p.H1106Y	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	1144	Cytoplasmic (Potential).				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			lung(3)|breast(2)	5		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)		ACGTCCTTGTGGCCCCCCGGC	0.473													A	105609319	G	A	105609319	3	1	226	1	0	0	0	0	1	0	0	0	7935	1348	47	4	290	4	JAG2	14	105609319	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	14564822	105609319	1740221	230	114676											
TRPM1	4308	broad.mit.edu	37	chr15	31339349	31339349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagttgttgtaaagggtccGaaagtttttccgagtgtagt	12	5	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:31339349G>A	uc001zfm.2	-	14	1791	c.1663C>T	c.(1663-1665)CGG>TGG	p.R555W	TRPM1_uc010azy.2_Missense_Mutation_p.R462W|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	555	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		TAAAGGGTCCGAAAGTTTTTC	0.517													A	31339349	G	A	31339349	3	1	226	1	0	0	0	0	1	0	0	0	16582	1057	37	1	3204	1	TRPM1	15	31339349	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		31339349	71192043	231	114677											
C15orf29	79768	broad.mit.edu	37	chr15	34440952	34440952	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttcatggtcctgagaaacCtgaaaggcaataatctgatt	9	7	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:34440952C>G	uc001zhp.2	-	5	599	c.439_splice	c.e5-1	p.V147_splice	C15orf29_uc010ubz.1_Splice_Site_p.V51_splice|C15orf29_uc010uca.1_Intron	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768							nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		CCTGAGAAACCTGAAAGGCAA	0.338													G	34440952	C	G	34440952	5	3	226	1	0	0	0	0	0	0	1	0	1789	695	24	5	500	5	C15orf29	15	34440952	Splice_Site	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3101603	34440952	68090440	232	114678											
ACTC1	70	broad.mit.edu	37	chr15	35082638	35082638	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcatttgcggtggacaatgGatgggcctgcctcatcgtac	13	10	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:35082638G>C	uc001ziu.1	-	7	1352	c.1109C>G	c.(1108-1110)TCC>TGC	p.S370C	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	370					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTGGACAATGGATGGGCCTGC	0.502													C	35082638	G	C	35082638	3	2	226	1	0	0	0	0	1	0	0	0	195	1174	41	5	28	5	ACTC1	15	35082638	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	641686	35082638	67448754	233	114679											
EIF2AK4	440275	broad.mit.edu	37	chr15	40268999	40269000	+	In_Frame_Ins	INS	-	-	GACGAC													gggctccagcgatgacgaggINSacgacgacgaggacgagcac							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:40268998_40268999G>GGACGAC	uc001zkm.1	+	11	2252_2253	c.2202_2203G>GGACGAC	c.(2200-2205)gaggac>gaGGACGACac	p.737_738insD	EIF2AK4_uc010bbj.1_In_Frame_Ins_p.466_467insD	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	737	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|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)		GCGATGACGAGGACGACGACGA	0.678													GACGAC	40269000	-	GACGAC	40268999	7	5	226	1	0	1	1	0	0	0	0	0	4999	1174	41	0	2249	0	EIF2AK4	15	40268999	In_Frame_Ins	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08	5186361	40268999	62262393	234	114680											
FBN1	2200	broad.mit.edu	37	chr15	48797306	48797306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcagtgttgacgcaacgccCattcatgcagatcccagggg	11	12	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:48797306C>G	uc001zwx.1	-	16	2204	c.1876G>C	c.(1876-1878)GGG>CGG	p.G626R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	626	EGF-like 10; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACGCAACGCCCATTCATGCAG	0.443													G	48797306	C	G	48797306	3	3	226	1	0	0	0	0	1	0	0	0	5702	594	21	5	6943	5	FBN1	15	48797306	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	8528307	48797306	53734086	235	114681											
CGNL1	84952	broad.mit.edu	37	chr15	57838432	57838432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaactccatgaagaaggaCttaaggtgggcaggtgtgga	14	7	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:57838432C>T	uc002aeg.2	+	18	3844	c.3768C>T	c.(3766-3768)GAC>GAT	p.D1256D	CGNL1_uc010bfw.2_Silent_p.D1256D	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1256	Potential.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAAGAAGGACTTAAGGTGGG	0.532													T	57838432	C	T	57838432	2	4	226	1	0	0	0	0	0	0	0	1	3304	564	20	4		4	CGNL1	15	57838432	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	9041126	57838432	44692960	236	114682											
TLN2	83660	broad.mit.edu	37	chr15	63040577	63040577	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagagagcatcaatcaactCatcactctgtgtacccaaca	5	13	5	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:63040577C>G	uc002alb.3	+	30	4053	c.4053C>G	c.(4051-4053)CTC>CTG	p.L1351L	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1351					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TCAATCAACTCATCACTCTGT	0.473													G	63040577	C	G	63040577	2	3	226	1	0	0	0	0	0	0	0	1	15945	813	29	5		5	TLN2	15	63040577	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	5202145	63040577	39490815	237	114683											
TPM1	7168	broad.mit.edu	37	chr15	63335135	63335135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcggcggaagacaggaGcaagcaggtctgcgcctccc	16	12	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:63335135G>A	uc002alg.2	+	1	298	c.107G>A	c.(106-108)AGC>AAC	p.S36N	TPM1_uc002alh.2_Missense_Mutation_p.S36N|TPM1_uc010bgn.2_RNA|TPM1_uc002ali.2_Missense_Mutation_p.S36N|TPM1_uc002alj.2_Missense_Mutation_p.S36N|TPM1_uc002alk.2_Missense_Mutation_p.S36N|TPM1_uc002all.2_Missense_Mutation_p.S36N|TPM1_uc002alm.2_Missense_Mutation_p.S36N|TPM1_uc010uie.1_Missense_Mutation_p.S36N|TPM1_uc002alp.2_Missense_Mutation_p.S36N	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	36	By similarity.				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				0						GAAGACAGGAGCAAGCAGGTC	0.682													A	63335135	G	A	63335135	3	1	226	1	0	0	0	0	1	0	0	0	16402	971	34	2	109	2	TPM1	15	63335135	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	294558	63335135	39196257	238	114684											
DPP8	54878	broad.mit.edu	37	chr15	65792991	65792991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgataaattccactacCggcttgaaacagaaatgttc	7	9	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:65792991C>T	uc002aov.2	-	4	2125	c.547G>A	c.(547-549)GGT>AGT	p.G183S	DPP8_uc002aow.2_Missense_Mutation_p.G183S|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.G167S|DPP8_uc002aoy.2_Missense_Mutation_p.G183S|DPP8_uc002aoz.2_Missense_Mutation_p.G167S|DPP8_uc010bhj.2_Missense_Mutation_p.G183S|DPP8_uc002apa.2_Missense_Mutation_p.G80S	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	183					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						ATTCCACTACCGGCTTGAAAC	0.398													T	65792991	C	T	65792991	3	4	226	1	0	0	0	0	1	0	0	0	4732	652	23	1	2217	1	DPP8	15	65792991	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2457856	65792991	36738401	239	114685											
TBC1D21	161514	broad.mit.edu	37	chr15	74180816	74180816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctgatgagctgatctctGccgcctgcgtggtttatgct	12	10	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:74180816G>T	uc002avz.2	+	10	1023	c.940G>T	c.(940-942)GCC>TCC	p.A314S	TBC1D21_uc010ulc.1_Missense_Mutation_p.A278S	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	314						intracellular	Rab GTPase activator activity			ovary(2)	2						GCTGATCTCTGCCGCCTGCGT	0.448													T	74180816	G	T	74180816	3	4	226	1	0	0	0	0	1	0	0	0	15607	1319	46	5	978	5	TBC1D21	15	74180816	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	8387825	74180816	28350576	240	114686											
C15orf39	56905	broad.mit.edu	37	chr15	75500588	75500588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctccggctcgagctcaGgctccagcttcagcccggga	12	17	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:75500588G>A	uc002azp.3	+	2	2519	c.2199G>A	c.(2197-2199)CAG>CAA	p.Q733Q	C15orf39_uc002azq.3_Silent_p.Q733Q|C15orf39_uc002azr.3_Silent_p.Q131Q	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	733											0						ctcgagctcaggctccagctt	0.244													A	75500588	G	A	75500588	2	1	226	1	0	0	0	0	0	0	0	1	1793	991	35	4		4	C15orf39	15	75500588	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1319772	75500588	27030804	241	114687											
MEX3B	84206	broad.mit.edu	37	chr15	82336071	82336071	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcctcccggggaccgctcGaactgggcccagataagtgg	14	15	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:82336071G>A	uc002bgq.1	-	2	1455	c.1140C>T	c.(1138-1140)TTC>TTT	p.F380F		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	380					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						GGGACCGCTCGAACTGGGCCC	0.542													A	82336071	G	A	82336071	2	1	226	1	0	0	0	0	0	0	0	1	9510	1049	37	1		1	MEX3B	15	82336071	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	6835483	82336071	20195321	242	114688											
WHAMM	123720	broad.mit.edu	37	chr15	83499525	83499525	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaagctggtaatgtgaaaAgccccaagtgtcaaaactgt	11	8	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:83499525A>C	uc002bje.2	+	9	2322	c.1816A>C	c.(1816-1818)AGC>CGC	p.S606R		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	606						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						TAATGTGAAAAGCCCCAAGTG	0.458													C	83499525	A	C	83499525	3	2	226	1	0	0	0	0	1	0	0	0	17358	72	3	5	1850	5	WHAMM	15	83499525	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	1163454	83499525	19031867	243	114689											
IGF1R	3480	broad.mit.edu	37	chr15	99500476	99500476	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagagaacatggagagcgtCcccctggacccctcggcctc	11	17	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:99500476C>T	uc002bul.2	+	21	3959	c.3909C>T	c.(3907-3909)GTC>GTT	p.V1303V	IGF1R_uc010bon.2_Silent_p.V1302V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1303	Cytoplasmic (Potential).				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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	TGGAGAGCGTCCCCCTGGACC	0.672													T	99500476	C	T	99500476	2	4	226	1	0	0	0	0	0	0	0	1	7571	842	30	4		4	IGF1R	15	99500476	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	16000951	99500476	3030916	244	114690											
OR4F15	390649	broad.mit.edu	37	chr15	102358635	102358635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attacagcccctaagatgatTtgtgatattttcaagaagca	7	7	1	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr15:102358635T>C	uc010uts.1	+	1	246	c.246T>C	c.(244-246)ATT>ATC	p.I82I		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTAAGATGATTTGTGATATTT	0.453													C	102358635	T	C	102358635	2	2	226	1	0	0	0	0	0	0	0	1	11061	1829	64	3		3	OR4F15	15	102358635	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	2858159	102358635	172757	245	114691											
CHTF18	63922	broad.mit.edu	37	chr16	841339	841339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagatgctggaggctgGgctggacccgagccagcgac	19	10	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:841339G>T	uc002cke.3	+	8	1136	c.1073G>T	c.(1072-1074)GGG>GTG	p.G358V	RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.G386V|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	358					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				CTGGAGGCTGGGCTGGACCCG	0.687													T	841339	G	T	841339	3	4	226	1	0	0	0	0	1	0	0	0	3414	1232	43	5	1103	5	CHTF18	16	841339	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		841339	89513414	246	114692											
ABAT	18	broad.mit.edu	37	chr16	8870335	8870335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccctgctcacaggactGctggacctccaggtaacacc	10	15	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:8870335G>A	uc002czc.3	+	14	1423	c.1257G>A	c.(1255-1257)CTG>CTA	p.L419L	ABAT_uc002czd.3_Silent_p.L419L|ABAT_uc010buh.2_Silent_p.L361L|ABAT_uc010bui.2_Silent_p.L419L	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	419					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			upper_aerodigestive_tract(1)	1					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)	TCACAGGACTGCTGGACCTCC	0.632													A	8870335	G	A	8870335	2	1	226	1	0	0	0	0	0	0	0	1	27	1306	46	2		2	ABAT	16	8870335	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	8028996	8870335	81484418	247	114693											
GRIN2A	2903	broad.mit.edu	37	chr16	9862770	9862770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccgtgaaacagaagcgcaGcttccagtagaagaggtgct	13	10	0	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:9862770G>C	uc002czo.3	-	12	3081	c.2533C>G	c.(2533-2535)CTG>GTG	p.L845V	GRIN2A_uc010uym.1_Missense_Mutation_p.L845V|GRIN2A_uc010uyn.1_Missense_Mutation_p.L688V|GRIN2A_uc002czr.3_Missense_Mutation_p.L845V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	845	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGAAGCGCAGCTTCCAGTAG	0.582													C	9862770	G	C	9862770	3	2	226	1	0	0	0	0	1	0	0	0	6779	962	34	5	1869	5	GRIN2A	16	9862770	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	992435	9862770	80491983	248	114694											
NOMO1	23420	broad.mit.edu	37	chr16	14960412	14960412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgtttgcttttgcagTaagcatcatgcatgaggatt	11	5	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:14960412T>G	uc002dcv.2	+	15	1736	c.1670T>G	c.(1669-1671)ATA>AGA	p.I557R		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	557	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						GCTTTTGCAGTAAGCATCATG	0.478													G	14960412	T	G	14960412	3	3	226	1	0	0	0	0	1	0	0	0	10531	1652	57	5	1728	5	NOMO1	16	14960412	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	5097642	14960412	75394341	249	114695											
NOMO1	23420	broad.mit.edu	37	chr16	14960427	14960427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaagcatcatgcatgAggattggtgctggaagaaca	13	6	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:14960427A>C	uc002dcv.2	+	15	1751	c.1685A>C	c.(1684-1686)GAG>GCG	p.E562A		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	562	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						ATCATGCATGAGGATTGGTGC	0.507													C	14960427	A	C	14960427	3	2	226	1	0	0	0	0	1	0	0	0	10531	304	11	5	1743	5	NOMO1	16	14960427	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	15	14960427	75394326	250	114696											
XYLT1	64131	broad.mit.edu	37	chr16	17252692	17252692	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaggtgctaccttgcaTtgtcccggccgtgtgacttc	13	11	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:17252692T>A	uc002dfa.2	-	6	1449	c.1364A>T	c.(1363-1365)AAT>ATT	p.N455I		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	455	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						CTACCTTGCATTGTCCCGGCC	0.473													A	17252692	T	A	17252692	3	1	226	1	0	0	0	0	1	0	0	0	17460	1493	52	5	1543	5	XYLT1	16	17252692	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	2292265	17252692	73102061	251	114697											
SEPT1	1731	broad.mit.edu	37	chr16	30393094	30393094	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcctcaccagtcagagcagtCcactgagtccccaaagccag	8	16	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:30393094C>G	uc002dxy.2	-	5	479	c.292G>C	c.(292-294)GAC>CAC	p.D98H	SEPT1_uc002dxx.2_Intron|SEPT1_uc010veq.1_Missense_Mutation_p.D145H	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	98					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			TCAGAGCAGTCCACTGAGTCC	0.582													G	30393094	C	G	30393094	3	3	226	1	0	0	0	0	1	0	0	0	14059	855	30	5	843	5	SEPT1	16	30393094	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	13140402	30393094	59961659	252	114698											
GPR97	222487	broad.mit.edu	37	chr16	57714457	57714457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtgcatatcctcacacGcatctcccaggcgggctgtg	11	15	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:57714457G>A	uc002emh.2	+	8	912	c.809G>A	c.(808-810)CGC>CAC	p.R270H	GPR97_uc010vhv.1_Missense_Mutation_p.R150H|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'UTR	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	270	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						ATCCTCACACGCATCTCCCAG	0.577													A	57714457	G	A	57714457	3	1	226	1	0	0	0	0	1	0	0	0	6720	1087	38	1	839	1	GPR97	16	57714457	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	27321363	57714457	32640296	253	114699											
KCNG4	93107	broad.mit.edu	37	chr16	84270991	84270991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaaggcccttgatggacGgcgtctccatggggctggac	15	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr16:84270991G>A	uc010voc.1	-	2	222	c.101C>T	c.(100-102)CCG>CTG	p.P34L	KCNG4_uc002fhu.1_Missense_Mutation_p.P34L	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	34	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CTTGATGGACGGCGTCTCCAT	0.632													A	84270991	G	A	84270991	3	1	226	1	0	0	0	0	1	0	0	0	8030	1116	39	1	1464	1	KCNG4	16	84270991	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	26556534	84270991	6083762	254	114700											
SMG6	23293	broad.mit.edu	37	chr17	2090057	2090057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggggagcagctccttcaGgtccgggacaaaggaagaca	14	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:2090057G>A	uc002fub.1	-	12	3110	c.3055C>T	c.(3055-3057)CTG>TTG	p.L1019L	SMG6_uc010vqv.1_Silent_p.L111L	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	1019					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			central_nervous_system(2)|lung(1)|kidney(1)	4						AGCTCCTTCAGGTCCGGGACA	0.577													A	2090057	G	A	2090057	2	1	226	1	0	0	0	0	0	0	0	1	14797	991	35	4		4	SMG6	17	2090057	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08		2090057	79105153	255	114701											
CYB5D2	124936	broad.mit.edu	37	chr17	4057987	4058011	+	Frame_Shift_Del	DEL	CTACGGAGAGGATGGGCTGCCCACC	CTACGGAGAGGATGGGCTGCCCACC	-													gggagggtgacaggacggttCtacggagaggatgggctgcc					rs144648688	byFrequency	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:4057986_4058010TCTACGGAGAGGATGGGCTGCCCACC>T	uc002fxm.4	+	2	998_1022	c.410_434TCTACGGAGAGGATGGGCTGCCCACC>T	c.(409-435)ttctacggagaggatgggctgcccaccfs	p.F137fs	CYB5D2_uc002fxl.4_Frame_Shift_Del_p.F25fs|CYB5D2_uc010cko.3_Frame_Shift_Del_p.F25fs	NM_144611	NP_001241685	Q8WUJ1	NEUFC_HUMAN	Homo sapiens cytochrome b5 domain containing 2 (CYB5D2), transcript variant 1, mRNA.	137					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						ACAGGACGGTTCTACGGAGAGGATGGGCTGCCCACCCCGGCACTG	0.591													-	4058011	CTACGGAGAGGATGGGCTGCCCACC	-	4057987	7	5	226	1	0	1	0	1	0	0	0	0	4125	912	32	0	421	0	CYB5D2	17	4057987	Frame_Shift_Del	DEL	CTACGGAGAGGATGGGCTGCCCACC	TCGA-D7-A4YT-01A-11D-A25D-08	1967930	4057987	77137223	256	114702											
SENP3	26168	broad.mit.edu	37	chr17	7468308	7468308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattccttcaaacgtatggcAgcctcatacccctcagcact	5	15	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:7468308A>C	uc002ghm.2	+	4	1261	c.988A>C	c.(988-990)AGC>CGC	p.S330R	EIF4A1_uc002gho.1_5'UTR|SENP3_uc002ghn.1_Missense_Mutation_p.S165R	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	330					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				AACGTATGGCAGCCTCATACC	0.552													C	7468308	A	C	7468308	3	2	226	1	0	0	0	0	1	0	0	0	14048	188	7	5	998	5	SENP3	17	7468308	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	3410321	7468308	73726902	257	114703											
RAI1	10743	broad.mit.edu	37	chr17	17698318	17698318	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggacttcagcccagggCtgtttgaagacccttccgtg	11	13	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:17698318C>G	uc002grm.2	+	3	2525	c.2056C>G	c.(2056-2058)CTG>GTG	p.L686V	RAI1_uc002grn.1_Missense_Mutation_p.L686V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	686						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCCCAGGGCTGTTTGAAGA	0.637													G	17698318	C	G	17698318	3	3	226	1	0	0	0	0	1	0	0	0	13007	796	28	5	2058	5	RAI1	17	17698318	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	10230010	17698318	63496892	258	114704											
KIAA0100	9703	broad.mit.edu	37	chr17	26960977	26960983	+	Frame_Shift_Del	DEL	AAGCCCC	AAGCCCC	-													actgccacgttaccccacggAagccccaagtgcaagatctg							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:26960976_26960982GAAGCCCC>G	uc002hbu.3	-	16	3296_3302	c.3193_3199GGGGCTTC>C	c.(3193-3201)gggcttccgfs	p.G1065fs		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1065						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)					TTACCCCACGGAAGCCCCAAGTGCAAG	0.565													-	26960983	AAGCCCC	-	26960977	7	5	226	1	0	1	0	1	0	0	0	0	8154	233	9	0	3601	0	KIAA0100	17	26960977	Frame_Shift_Del	DEL	AAGCCCC	TCGA-D7-A4YT-01A-11D-A25D-08	9262659	26960977	54234233	259	114705											
RAD51L3	5892	broad.mit.edu	37	chr17	33428247	33428247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatttggccagacacgcCatgcgccggccgcctgatgc	13	14	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:33428247C>A	uc002hir.2	-	9	1132	c.876G>T	c.(874-876)ATG>ATT	p.M292I	RFFL_uc002hiq.2_Missense_Mutation_p.M133I|RAD51L3_uc010ctj.2_Missense_Mutation_p.G111C|RAD51L3_uc010wcd.1_Missense_Mutation_p.M312I|RAD51L3_uc002his.2_Missense_Mutation_p.M180I|RAD51L3_uc010ctk.2_Missense_Mutation_p.M173I|RAD51L3_uc010wce.1_Missense_Mutation_p.M173I|RAD51L3_uc002hit.2_Missense_Mutation_p.M173I|RAD51L3_uc002hiu.2_Missense_Mutation_p.M115I	NM_002878	NP_002869	O75771	RA51D_HUMAN	RAD51-like 3 isoform 1	292					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAGACACGCCATGCGCCGGC	0.617								Direct_reversal_of_damage|Homologous_recombination					A	33428247	C	A	33428247	3	1	226	1	0	0	0	0	1	0	0	0	12990	594	21	5	118	5	RAD51L3	17	33428247	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6467270	33428247	47766963	260	114706											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334306	39334306	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggacacacagcagctgggGcggcagcaggtggtcctgca	16	12	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:39334306G>T	uc002hwd.2	-	1	155	c.111C>A	c.(109-111)CGC>CGA	p.R37R		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	5.|20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGGGCGGCAGCAGG	0.657													T	39334306	G	T	39334306	2	4	226	1	0	0	0	0	0	0	0	1	8551	1190	42	5		5	KRTAP4-2	17	39334306	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	5906059	39334306	41860904	261	114707											
GAST	2520	broad.mit.edu	37	chr17	39871710	39871710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgactgtgtgtgtatGtgctgatctttgcactggct	13	8	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:39871710G>A	uc002hxl.2	+	2	54	c.22G>A	c.(22-24)GTG>ATG	p.V8M	JUP_uc010wfs.1_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	gastrin preproprotein	8						extracellular region	hormone activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTGTGTGTATGTGCTGATCTT	0.592													A	39871710	G	A	39871710	3	1	226	1	0	0	0	0	1	0	0	0	6252	1377	48	4	24	4	GAST	17	39871710	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	537404	39871710	41323500	262	114708											
KAT2A	2648	broad.mit.edu	37	chr17	40269797	40269797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggagccgcttggcatcctCcagggtcaggttctctggga	14	12	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:40269797C>T	uc002hyx.2	-	9	1387	c.1327G>A	c.(1327-1329)GAG>AAG	p.E443K		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	443					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			upper_aerodigestive_tract(1)|lung(1)	2						TTGGCATCCTCCAGGGTCAGG	0.572													T	40269797	C	T	40269797	3	4	226	1	0	0	0	0	1	0	0	0	7981	864	30	4	1226	4	KAT2A	17	40269797	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	398087	40269797	40925413	263	114709											
KAT2A	2648	broad.mit.edu	37	chr17	40271704	40271708	+	Frame_Shift_Del	DEL	ACTAA	ACTAA	-													cgctcccggggagccaggtgActaaacttgtactgcacaaa							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:40271703_40271707GACTAA>G	uc002hyx.2	-	4	789_793	c.729_733TTAGTC>C	c.(727-735)tttagtcacfs	p.F243fs		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	243					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						GGAGCCAGGTGACTAAACTTGTACT	0.541													-	40271708	ACTAA	-	40271704	7	5	226	1	0	1	0	1	0	0	0	0	7981	272	10	0	1837	0	KAT2A	17	40271704	Frame_Shift_Del	DEL	ACTAA	TCGA-D7-A4YT-01A-11D-A25D-08	1907	40271704	40923506	264	114710											
BECN1	8678	broad.mit.edu	37	chr17	40966663	40966663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcgacccagcctgaagtTattgattgtgccaaactgtc	10	11	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:40966663T>C	uc002ibo.3	-	9	994	c.859A>G	c.(859-861)AAC>GAC	p.N287D	BECN1_uc010whb.1_Missense_Mutation_p.N200D|BECN1_uc010whc.1_Missense_Mutation_p.N211D|BECN1_uc002ibn.2_Missense_Mutation_p.N287D	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	287					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		AGCCTGAAGTTATTGATTGTG	0.498													C	40966663	T	C	40966663	3	2	226	1	0	0	0	0	1	0	0	0	1396	1754	61	3	509	3	BECN1	17	40966663	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	694959	40966663	40228547	265	114711											
GIP	2695	broad.mit.edu	37	chr17	47041686	47041686	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcactcattcttcttcccCttttgggccagcagccagtt	6	15	4	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:47041686C>G	uc002iol.1	-	3	341	c.243G>C	c.(241-243)AAG>AAC	p.K81N		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	81					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			skin(1)	1						TCTTCTTCCCCTTTTGGGCCA	0.557													G	47041686	C	G	47041686	3	3	226	1	0	0	0	0	1	0	0	0	6391	680	24	5	234	5	GIP	17	47041686	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	6075023	47041686	34153524	266	114712											
LUC7L3	51747	broad.mit.edu	37	chr17	48817692	48817692	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaaaattcatgatgaAaatctacgaaaacagtaagt	7	4	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:48817692A>G	uc002isr.2	+	3	309	c.192A>G	c.(190-192)GAA>GAG	p.E64E	LUC7L3_uc002isp.1_5'UTR|LUC7L3_uc010wmw.1_5'UTR|LUC7L3_uc002isq.2_Silent_p.E64E|LUC7L3_uc002iss.2_Silent_p.E64E	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	64					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						TTCATGATGAAAATCTACGAA	0.323													G	48817692	A	G	48817692	2	3	226	1	0	0	0	0	0	0	0	1	9084	11	1	3		3	LUC7L3	17	48817692	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	1776006	48817692	32377518	267	114713											
RNF43	54894	broad.mit.edu	37	chr17	56440698	56440720	+	Frame_Shift_Del	DEL	CCATCAGCTTCTCAGCGTCATTA	CCATCAGCTTCTCAGCGTCATTA	-													ttggttcttgtacacaaactCcatcagcttctcagcgtcat					rs145164323		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:56440698_56440720delCCATCAGCTTCTCAGCGTCATTA	uc002iwf.2	-	4	2454_2476	c.498_520delTAATGACGCTGAGAAGCTGATGG	c.(496-522)GGTAATGACGCTGAGAAGCTGATGGAGfs	p.G166fs	RNF43_uc010wnv.1_Frame_Shift_Del_p.G125fs|RNF43_uc002iwh.3_Frame_Shift_Del_p.G166fs|RNF43_uc002iwg.3_Frame_Shift_Del_p.G166fs|RNF43_uc010dcw.2_Frame_Shift_Del_p.G39fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	166_174	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACACAAACTCCATCAGCTTCTCAGCGTCATTACCCCAGATCA	0.583													-	56440720	CCATCAGCTTCTCAGCGTCATTA	-	56440698	7	5	226	1	0	1	0	1	0	0	0	0	13495	864	30	0	1855	0	RNF43	17	56440698	Frame_Shift_Del	DEL	CCATCAGCTTCTCAGCGTCATTA	TCGA-D7-A4YT-01A-11D-A25D-08	7623006	56440698	24754512	268	114714											
MED13	9969	broad.mit.edu	37	chr17	60042423	60042452	+	In_Frame_Del	DEL	CCCAGCTGTCTGTAGAGCTGATGTCTGTTG	CCCAGCTGTCTGTAGAGCTGATGTCTGTTG	-													gaagatgattctccagaaatCccagctgtctgtagagctga					rs9907648	by1000genomes	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:60042422_60042451TCCCAGCTGTCTGTAGAGCTGATGTCTGTTG>T	uc002izo.3	-	19	4837_4866	c.4760_4789CAACAGACATCAGCTCTACAGACAGCTGGGA>A	c.(4759-4791)caacagacatcagctctacagacagctgggatt>cAtt	p.1587_1597QQTSALQTAGI>H		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1587					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor 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						TCTCCAGAAATCCCAGCTGTCTGTAGAGCTGATGTCTGTTGCCCTCCTAG	0.426													-	60042452	CCCAGCTGTCTGTAGAGCTGATGTCTGTTG	-	60042423	7	5	226	1	0	1	0	1	0	0	0	0	9430	842	30	0	1780	0	MED13	17	60042423	In_Frame_Del	DEL	CCCAGCTGTCTGTAGAGCTGATGTCTGTTG	TCGA-D7-A4YT-01A-11D-A25D-08	3601725	60042423	21152787	269	114715											
MRC2	9902	broad.mit.edu	37	chr17	60765989	60765989	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactgggcacctggggagccCtctggccctagccctgctcc	12	17	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:60765989C>G	uc002jad.2	+	22	3591	c.3189C>G	c.(3187-3189)CCC>CCG	p.P1063P	MRC2_uc002jae.2_Silent_p.P134P|MRC2_uc002jaf.2_Missense_Mutation_p.P9R	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1063	Extracellular (Potential).|C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTGGGGAGCCCTCTGGCCCTA	0.632													G	60765989	C	G	60765989	2	3	226	1	0	0	0	0	0	0	0	1	9758	668	24	5		5	MRC2	17	60765989	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	723566	60765989	20429221	270	114716											
SCN4A	6329	broad.mit.edu	37	chr17	62049151	62049151	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagtcgtcgacacagAagcctcgggccagtatcttg	12	10	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:62049151A>C	uc002jds.1	-	4	619	c.542T>G	c.(541-543)TTC>TGC	p.F181C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	181	I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GTCGACACAGAAGCCTCGGGC	0.607													C	62049151	A	C	62049151	3	2	226	1	0	0	0	0	1	0	0	0	13920	246	9	5	5052	5	SCN4A	17	62049151	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	1283162	62049151	19146059	271	114717											
ENGASE	64772	broad.mit.edu	37	chr17	77077146	77077146	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggcaagacgaactcaaccAgcacaacaggtgagcctgca	10	12	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:77077146A>T	uc002jwv.2	+	6	871	c.863A>T	c.(862-864)CAG>CTG	p.Q288L	ENGASE_uc002jwu.1_Missense_Mutation_p.Q288L|ENGASE_uc010wtz.1_Missense_Mutation_p.Q102L|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	288						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						GAACTCAACCAGCACAACAGG	0.657													T	77077146	A	T	77077146	3	4	226	1	0	0	0	0	1	0	0	0	5118	188	7	5	885	5	ENGASE	17	77077146	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	15027995	77077146	4118064	272	114718											
DUS1L	64118	broad.mit.edu	37	chr17	80016246	80016246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagtctctttggaggctCgcttcttgcagcagccgcgg	13	13	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:80016246C>T	uc002kdq.2	-	12	1672	c.1253G>A	c.(1252-1254)CGA>CAA	p.R418Q	DUS1L_uc002kdp.2_Silent_p.A284A|DUS1L_uc002kdr.2_Missense_Mutation_p.R418Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	418					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	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)			TTTGGAGGCTCGCTTCTTGCA	0.672													T	80016246	C	T	80016246	3	4	226	1	0	0	0	0	1	0	0	0	4805	884	31	1	176	1	DUS1L	17	80016246	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2939100	80016246	1178964	273	114719											
DUS1L	64118	broad.mit.edu	37	chr17	80019827	80019827	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcacccgacaggggccccttCtgctccttggtgcgtccgtg	13	16	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr17:80019827C>T	uc002kdq.2	-	5	962	c.543G>A	c.(541-543)CAG>CAA	p.Q181Q	DUS1L_uc002kdp.2_Silent_p.Q50Q|DUS1L_uc002kdr.2_Silent_p.Q181Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Silent_p.Q164Q	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	181					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	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)			GGGGCCCCTTCTGCTCCTTGG	0.498													T	80019827	C	T	80019827	2	4	226	1	0	0	0	0	0	0	0	1	4805	912	32	4		4	DUS1L	17	80019827	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	3581	80019827	1175383	274	114720											
CABYR	26256	broad.mit.edu	37	chr18	21736628	21736628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaagcaacagctctgctctCtgacacatctttgaaaggtc	8	11	3	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr18:21736628C>G	uc002kux.2	+	4	1315	c.1163C>G	c.(1162-1164)TCT>TGT	p.S388C	CABYR_uc010xbb.1_Missense_Mutation_p.S290C|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.S370C|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	NM_012189	NP_036321	O75952	CABYR_HUMAN	calcium-binding tyrosine	388					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				0	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)					GCTCTGCTCTCTGACACATCT	0.428													G	21736628	C	G	21736628	3	3	226	1	0	0	0	0	1	0	0	0	2536	913	32	5	1173	5	CABYR	18	21736628	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08		21736628	56340620	275	114721											
PHLPP1	23239	broad.mit.edu	37	chr18	60646462	60646462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgaaagcctggaggctAttttgctgccccggctcagc	11	13	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr18:60646462A>G	uc002lis.2	+	18	3594	c.3416A>G	c.(3415-3417)TAT>TGT	p.Y1139C		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1651					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						CCTGGAGGCTATTTTGCTGCC	0.512													G	60646462	A	G	60646462	3	3	226	1	0	0	0	0	1	0	0	0	11854	449	16	3	5018	3	PHLPP1	18	60646462	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	38909834	60646462	17430786	276	114722											
GALR1	2587	broad.mit.edu	37	chr18	74962768	74962768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctacctgctcttctgCatccccttccaggccaccgt	7	19	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr18:74962768C>T	uc002lms.3	+	1	761	c.264C>T	c.(262-264)TGC>TGT	p.C88C		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	88	Helical; Name=2; (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGCTCTTCTGCATCCCCTTCC	0.627													T	74962768	C	T	74962768	2	4	226	1	0	0	0	0	0	0	0	1	6227	718	25	2		2	GALR1	18	74962768	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	14316306	74962768	3114480	277	114723											
SBNO2	22904	broad.mit.edu	37	chr19	1109765	1109765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtagatctcctcgatacCgggagcaaggtctagggggg	15	10	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:1109765C>T	uc002lrk.3	-	27	3278	c.3040G>A	c.(3040-3042)GGT>AGT	p.G1014S	SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Missense_Mutation_p.G957S|SBNO2_uc010dse.2_Missense_Mutation_p.G997S|SBNO2_uc010xgj.1_Intron	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	1014					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		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)		TCCTCGATACCGGGAGCAAGG	0.672													T	1109765	C	T	1109765	3	4	226	1	0	0	0	0	1	0	0	0	13863	652	23	1	1084	1	SBNO2	19	1109765	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08		1109765	58019218	278	114724											
STK11	6794	broad.mit.edu	37	chr19	1219322	1219322	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtccttagcgccccaCgtatatggtgatggagtact	12	9	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:1219322C>G	uc002lrl.1	+	3	1490	c.375_splice	c.e3-1	p.M125_splice		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11						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?(19)|p.?(2)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		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)		TAGCGCCCCACGTATATGGTG	0.657		14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			G	1219322	C	G	1219322	5	3	226	1	0	0	0	0	0	0	1	0	15286	550	19	5	384	5	STK11	19	1219322	Splice_Site	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	109557	1219322	57909661	279	114725											
PTPRS	5802	broad.mit.edu	37	chr19	5218806	5218806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggttcttacctgtcgggTttgctgttcccgaaagcaga	12	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:5218806T>G	uc002mbv.2	-	24	4161	c.3927A>C	c.(3925-3927)AAA>AAC	p.K1309N	PTPRS_uc002mbu.1_Missense_Mutation_p.K878N|PTPRS_uc010xin.1_Missense_Mutation_p.K878N|PTPRS_uc002mbw.2_Missense_Mutation_p.K1287N|PTPRS_uc002mbx.2_Missense_Mutation_p.K882N|PTPRS_uc002mby.2_Missense_Mutation_p.K878N	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1309	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ACCTGTCGGGTTTGCTGTTCC	0.517													G	5218806	T	G	5218806	3	3	226	1	0	0	0	0	1	0	0	0	12811	1722	60	5	1979	5	PTPRS	19	5218806	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	3999484	5218806	53910177	280	114726											
SLC25A23	79085	broad.mit.edu	37	chr19	6444244	6444244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatatggtaccgcaggcCaggagcacgaggatgcctgg	16	10	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:6444244C>T	uc002mex.1	-	9	1282	c.1140G>A	c.(1138-1140)CTG>CTA	p.L380L	SLC25A23_uc010duu.1_RNA|SLC25A23_uc002meu.2_RNA|SLC25A23_uc002mev.2_RNA|SLC25A23_uc002mew.1_RNA|SLC25A23_uc010xjd.1_Silent_p.L141L	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	380	Helical; Name=5; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						TACCGCAGGCCAGGAGCACGA	0.642													T	6444244	C	T	6444244	2	4	226	1	0	0	0	0	0	0	0	1	14486	581	21	4		4	SLC25A23	19	6444244	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1225438	6444244	52684739	281	114727											
ARHGEF18	23370	broad.mit.edu	37	chr19	7523439	7523439	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgttacaaaagctcatcgtGagggaagtggccaacgagga	13	8	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:7523439G>T	uc002mgi.2	+	9	1912	c.1659G>T	c.(1657-1659)GTG>GTT	p.V553V	ARHGEF18_uc010xjm.1_Silent_p.V395V|ARHGEF18_uc002mgh.2_Silent_p.V395V|ARHGEF18_uc002mgj.1_Silent_p.V196V	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	553	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			ovary(1)	1		Renal(5;0.0902)				AGCTCATCGTGAGGGAAGTGG	0.537													T	7523439	G	T	7523439	2	4	226	1	0	0	0	0	0	0	0	1	901	1277	45	5		5	ARHGEF18	19	7523439	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1079195	7523439	51605544	282	114728											
STXBP2	6813	broad.mit.edu	37	chr19	7711164	7711164	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctccagccggctggagccGagagaacgcatggagcccac	13	15	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:7711164G>A	uc002mha.3	+	16	1431	c.1386G>A	c.(1384-1386)CCG>CCA	p.P462P	STXBP2_uc002mhb.3_Silent_p.P459P|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Silent_p.P473P|STXBP2_uc010dvk.2_Silent_p.P430P|STXBP2_uc002mhc.3_Intron|STXBP2_uc002mhe.1_Silent_p.P90P	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	462					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			central_nervous_system(1)	1						GGCTGGAGCCGAGAGAACGCA	0.677													A	7711164	G	A	7711164	2	1	226	1	0	0	0	0	0	0	0	1	15352	1045	37	1		1	STXBP2	19	7711164	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	187725	7711164	51417819	283	114729											
ACP5	54	broad.mit.edu	37	chr19	11687884	11687884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagacctggaacctcttGtcattgatgtcttgcacacc	8	13	3	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:11687884G>A	uc002msg.3	-	2	395	c.249C>T	c.(247-249)GAC>GAT	p.D83D	ACP5_uc002msh.3_Silent_p.D83D|ACP5_uc002msi.3_Silent_p.D83D|ACP5_uc002msj.3_Silent_p.D83D|ACP5_uc010dye.1_Silent_p.D83D	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	83					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						GGAACCTCTTGTCATTGATGT	0.562													A	11687884	G	A	11687884	2	1	226	1	0	0	0	0	0	0	0	1	164	1368	48	4		4	ACP5	19	11687884	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3976720	11687884	47441099	284	114730											
ZNF44	51710	broad.mit.edu	37	chr19	12384018	12384024	+	Frame_Shift_Del	DEL	GAACCAG	GAACCAG	-													ttccttcatgaattcgtgctGaaccaggaaaatcaaagcct							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:12384017_12384023TGAACCAG>T	uc010xmj.2	-	4	1396_1402	c.1191_1197CTGGTTCA>A	c.(1189-1197)cctggttcafs	p.P397fs	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Frame_Shift_Del_p.P349fs	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	397					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)		GAATTCGTGCTGAACCAGGAAAATCAA	0.401													-	12384024	GAACCAG	-	12384018	7	5	226	1	0	1	0	1	0	0	0	0	17909	1294	45	0	799	0	ZNF44	19	12384018	Frame_Shift_Del	DEL	GAACCAG	TCGA-D7-A4YT-01A-11D-A25D-08	696134	12384018	46744965	285	114731											
KLF1	10661	broad.mit.edu	37	chr19	12996891	12996891	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggtcctcagacttcacgtgGaggggcggctccgtggggtc	17	11	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:12996891G>T	uc002mvo.2	-	2	216	c.153C>A	c.(151-153)CTC>CTA	p.L51L		NM_006563	NP_006554	Q13351	KLF1_HUMAN	erythroid Kruppel-like factor	51	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTTCACGTGGAGGGGCGGCT	0.697													T	12996891	G	T	12996891	2	4	226	1	0	0	0	0	0	0	0	1	8337	1161	41	5		5	KLF1	19	12996891	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	612873	12996891	46132092	286	114732											
RAB3A	5864	broad.mit.edu	37	chr19	18311163	18311163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgcattgaaggattcCtcgttggtgatgtcatacat	10	8	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:18311163C>T	uc002nie.2	-	3	490	c.321G>A	c.(319-321)GAG>GAA	p.E107E		NM_002866	NP_002857	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	107					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				0						TGAAGGATTCCTCGTTGGTGA	0.413													T	18311163	C	T	18311163	2	4	226	1	0	0	0	0	0	0	0	1	12931	680	24	4		4	RAB3A	19	18311163	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	5314272	18311163	40817820	287	114733											
GRAMD1A	57655	broad.mit.edu	37	chr19	35510135	35510135	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtggggacagcaagtgccaCcagcgccgggtgctgacgta	16	11	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:35510135C>G	uc010xse.1	+	12	1391	c.1254C>G	c.(1252-1254)CAC>CAG	p.H418Q	GRAMD1A_uc002nxk.2_Missense_Mutation_p.H411Q|GRAMD1A_uc002nxl.2_Missense_Mutation_p.H184Q|GRAMD1A_uc010xsf.1_Missense_Mutation_p.H423Q|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.H33Q	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	418						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCAAGTGCCACCAGCGCCGGG	0.667													G	35510135	C	G	35510135	3	3	226	1	0	0	0	0	1	0	0	0	6747	506	18	5	1300	5	GRAMD1A	19	35510135	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	17198972	35510135	23618848	288	114734											
ARHGAP33	115703	broad.mit.edu	37	chr19	36273737	36273737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcatgcatgcccgcAacctggccattgtctgggca	10	15	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:36273737A>C	uc002obr.1	+	15	1472	c.1387A>C	c.(1387-1389)AAC>CAC	p.N463H	ARHGAP33_uc002obs.1_Missense_Mutation_p.N463H|ARHGAP33_uc002obt.1_Missense_Mutation_p.N327H|ARHGAP33_uc010eel.2_Missense_Mutation_p.N51H|ARHGAP33_uc002obv.1_Missense_Mutation_p.N51H	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	463	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						GCATGCCCGCAACCTGGCCAT	0.657													C	36273737	A	C	36273737	3	2	226	1	0	0	0	0	1	0	0	0	882	130	5	5	1445	5	ARHGAP33	19	36273737	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	763602	36273737	22855246	289	114735											
ACTN4	81	broad.mit.edu	37	chr19	39207941	39207941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccttcatgccctccgaGggcaagatggtctcggtgag	13	14	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:39207941G>A	uc002oja.1	+	10	1187	c.1128G>A	c.(1126-1128)GAG>GAA	p.E376E	ACTN4_uc010egc.1_Silent_p.E376E	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	376	Spectrin 1.				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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCCTCCGAGGGCAAGATGG	0.617													A	39207941	G	A	39207941	2	1	226	1	0	0	0	0	0	0	0	1	207	991	35	4		4	ACTN4	19	39207941	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	2934204	39207941	19921042	290	114736											
SPTBN4	57731	broad.mit.edu	37	chr19	41009957	41009957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttgtgggtgcccggcGgacacgacttgagcagaacc	16	11	0	2	rs145007629		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:41009957G>A	uc002ony.2	+	12	1669	c.1583G>A	c.(1582-1584)CGG>CAG	p.R528Q	SPTBN4_uc002onx.2_Missense_Mutation_p.R528Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R528Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	528	Spectrin 3.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGTGCCCGGCGGACACGACTT	0.652													A	41009957	G	A	41009957	3	1	226	1	0	0	0	0	1	0	0	0	15120	1116	39	1	1625	1	SPTBN4	19	41009957	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1802016	41009957	18119026	291	114737											
LTBP4	8425	broad.mit.edu	37	chr19	41115559	41115559	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gctcagcccccagggcacccGatgcattggtgagcaagacg	13	14	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:41115559G>C	uc002ooh.1	+	13	1751	c.1751G>C	c.(1750-1752)CGA>CCA	p.R584P	LTBP4_uc002oog.1_Missense_Mutation_p.R547P|LTBP4_uc002ooi.1_Missense_Mutation_p.R517P|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	584	Cys-rich.|EGF-like 3.				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)			CAGGGCACCCGATGCATTGGT	0.692													C	41115559	G	C	41115559	3	2	226	1	0	0	0	0	1	0	0	0	9076	1058	37	5	2094	5	LTBP4	19	41115559	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	105602	41115559	18013424	292	114738											
GRIK5	2901	broad.mit.edu	37	chr19	42510076	42510076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgtagttccacatgcGctggtacgtttggtaccgtg	12	10	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:42510076G>A	uc002osj.1	-	16	2097	c.2062C>T	c.(2062-2064)CGC>TGC	p.R688C	GRIK5_uc002osi.1_Missense_Mutation_p.R260C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	688	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TTCCACATGCGCTGGTACGTT	0.587													A	42510076	G	A	42510076	3	1	226	1	0	0	0	0	1	0	0	0	6777	1087	38	1	896	1	GRIK5	19	42510076	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1394517	42510076	16618907	293	114739											
GSK3A	2931	broad.mit.edu	37	chr19	42736796	42736796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactccagcaggctagagcaGagcgcgatggcctctggcgg	15	12	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:42736796G>A	uc002otb.1	-	9	1256	c.1137C>T	c.(1135-1137)CTC>CTT	p.L379L	GSK3A_uc002ota.1_Silent_p.L297L|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	379	Protein kinase.				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			ovary(2)|lung(2)	4		Prostate(69;0.00682)				GGCTAGAGCAGAGCGCGATGG	0.587													A	42736796	G	A	42736796	2	1	226	1	0	0	0	0	0	0	0	1	6823	929	33	4		4	GSK3A	19	42736796	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	226720	42736796	16392187	294	114740											
IRGC	56269	broad.mit.edu	37	chr19	44223739	44223739	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaggtctcgcctgagactgtCctgcggctctattcccagtc	11	14	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:44223739C>G	uc002oxh.2	+	2	1176	c.1029C>G	c.(1027-1029)GTC>GTG	p.V343V		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	343						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CTGAGACTGTCCTGCGGCTCT	0.672													G	44223739	C	G	44223739	2	3	226	1	0	0	0	0	0	0	0	1	7838	842	30	5		5	IRGC	19	44223739	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1486943	44223739	14905244	295	114741											
ZNF230	7773	broad.mit.edu	37	chr19	44514462	44514462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaccacatgaagactgcCcttgccagcaaatctgggaa	10	12	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:44514462C>A	uc002oyb.1	+	5	522	c.271C>A	c.(271-273)CCT>ACT	p.P91T		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	91	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TGAAGACTGCCCTTGCCAGCA	0.438													A	44514462	C	A	44514462	3	1	226	1	0	0	0	0	1	0	0	0	17781	623	22	5	285	5	ZNF230	19	44514462	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	290723	44514462	14614521	296	114742											
ZNF233	353355	broad.mit.edu	37	chr19	44778486	44778486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaccatcagcaagtccAtactggagagaatccctaca	7	13	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:44778486A>G	uc002oyz.1	+	5	1800	c.1673A>G	c.(1672-1674)CAT>CGT	p.H558R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.H373R	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	558	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				CAGCAAGTCCATACTGGAGAG	0.478													G	44778486	A	G	44778486	3	3	226	1	0	0	0	0	1	0	0	0	17783	217	8	3	1687	3	ZNF233	19	44778486	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	264024	44778486	14350497	297	114743											
ZNF296	162979	broad.mit.edu	37	chr19	45574995	45574995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgcatgcggcggtggCggttgagcttactgctctgg	17	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:45574995C>T	uc002pao.2	-	3	1349	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	431	C2H2-type 5.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCGGCGGTGGCGGTTGAGCTT	0.667													T	45574995	C	T	45574995	3	4	226	1	0	0	0	0	1	0	0	0	17825	768	27	1	139	1	ZNF296	19	45574995	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	796509	45574995	13553988	298	114744											
PPM1N	147699	broad.mit.edu	37	chr19	46002514	46002514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtggccgcactggcaCgccaggctgaggacgagttc	16	12	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:46002514C>A	uc002pce.2	+	1	784	c.784C>A	c.(784-786)CGC>AGC	p.R262S	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	262	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0						CGCACTGGCACGCCAGGCTGA	0.662													A	46002514	C	A	46002514	3	1	226	1	0	0	0	0	1	0	0	0	12346	536	19	5	786	5	PPM1N	19	46002514	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	427519	46002514	13126469	299	114745											
CCDC9	26093	broad.mit.edu	37	chr19	47774720	47774720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcccccaccgggatcCcctgcagtgagcaggcccac	12	18	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:47774720C>T	uc010xym.1	+	12	1588	c.1381C>T	c.(1381-1383)CCC>TCC	p.P461S		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	461											0		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)		CACCGGGATCCCCTGCAGTGA	0.512													T	47774720	C	T	47774720	3	4	226	1	0	0	0	0	1	0	0	0	2867	623	22	4	1423	4	CCDC9	19	47774720	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1772206	47774720	11354263	300	114746											
EHD2	30846	broad.mit.edu	37	chr19	48244185	48244185	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtttcactcgctgaagccGaagctgctagaggcactgga	12	10	1	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:48244185G>A	uc002phj.3	+	6	1378	c.1128G>A	c.(1126-1128)CCG>CCA	p.P376P	EHD2_uc010xyu.1_Silent_p.P240P|EHD2_uc010xyv.1_Silent_p.P59P	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	376					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		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)		CGCTGAAGCCGAAGCTGCTAG	0.642													A	48244185	G	A	48244185	2	1	226	1	0	0	0	0	0	0	0	1	4978	1045	37	1		1	EHD2	19	48244185	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	469465	48244185	10884798	301	114747											
ZNF677	342926	broad.mit.edu	37	chr19	53741187	53741187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctttccacagtcattacActtgtatgatttttctctaa	4	10	2	1	rs141599719		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:53741187A>G	uc002qbf.1	-	5	978	c.793T>C	c.(793-795)TGT>CGT	p.C265R	ZNF677_uc002qbg.1_Missense_Mutation_p.C265R	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	265	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		CAGTCATTACACTTGTATGAT	0.343													G	53741187	A	G	53741187	3	3	226	1	0	0	0	0	1	0	0	0	18081	159	6	3	965	3	ZNF677	19	53741187	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	5497002	53741187	5387796	302	114748											
PRKCG	5582	broad.mit.edu	37	chr19	54409676	54409676	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgactgggagcggctggaaCgattggagatcccgcctcct	14	11	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:54409676C>T	uc002qcq.1	+	17	2152	c.1870C>T	c.(1870-1872)CGA>TGA	p.R624*	PRKCG_uc010yeg.1_Nonsense_Mutation_p.R624*|PRKCG_uc010yeh.1_Nonsense_Mutation_p.R475*	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	624	AGC-kinase C-terminal.				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			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	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)		GCGGCTGGAACGATTGGAGAT	0.622											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	54409676	C	T	54409676	4	4	226	1	0	0	0	0	0	1	0	0	12512	528	19	1	1936	1	PRKCG	19	54409676	Nonsense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	668489	54409676	4719307	303	114749											
TMEM190	147744	broad.mit.edu	37	chr19	55889085	55889085	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccaccagcgtccagaCggtgagggctcctggcccca	12	16	0	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:55889085C>G	uc002qkt.1	+	3	237	c.219C>G	c.(217-219)GAC>GAG	p.D73E		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	73	Extracellular (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCGTCCAGACGGTGAGGGCT	0.682													G	55889085	C	G	55889085	3	3	226	1	0	0	0	0	1	0	0	0	16111	550	19	5	229	5	TMEM190	19	55889085	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1479409	55889085	3239898	304	114750											
NLRP4	147945	broad.mit.edu	37	chr19	56388502	56388502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttgtgtcgggctctgaCgcatacggattgccgcttag	14	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:56388502C>T	uc002qmd.3	+	8	3088	c.2666C>T	c.(2665-2667)ACG>ATG	p.T889M	NLRP4_uc002qmf.2_Missense_Mutation_p.T814M|NLRP4_uc010etf.2_Missense_Mutation_p.T664M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	889							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGGGCTCTGACGCATACGGAT	0.493													T	56388502	C	T	56388502	3	4	226	1	0	0	0	0	1	0	0	0	10479	536	19	1	2692	1	NLRP4	19	56388502	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	499417	56388502	2740481	305	114751											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189625	58189625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcaatcaaatagtttcCctaatcatcatccaggaaga	6	10	3	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr19:58189625C>T	uc002qpu.2	+	5	1351	c.654C>T	c.(652-654)TCC>TCT	p.S218S		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	218					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		AAATAGTTTCCCTAATCATCA	0.403													T	58189625	C	T	58189625	2	4	226	1	0	0	0	0	0	0	0	1	18234	610	22	4		4	ZSCAN4	19	58189625	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	1801123	58189625	939358	306	114752											
TGM6	343641	broad.mit.edu	37	chr20	2384321	2384321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgtttgcggaggtcaaCgccgactacatcacctggct	11	12	2	0	rs145029765		TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:2384321C>T	uc002wfy.1	+	9	1249	c.1188C>T	c.(1186-1188)AAC>AAT	p.N396N	TGM6_uc010gal.1_Silent_p.N396N	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	396		Calcium (By similarity).			cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CGGAGGTCAACGCCGACTACA	0.617													T	2384321	C	T	2384321	2	4	226	1	0	0	0	0	0	0	0	1	15831	535	19	1		1	TGM6	20	2384321	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08		2384321	60641199	307	114753											
SLC4A11	83959	broad.mit.edu	37	chr20	3211489	3211489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctatggtcttctgcaCgtctgtgggggtgcggaggt	17	10	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:3211489C>T	uc002wig.2	-	10	1267	c.1219G>A	c.(1219-1221)GTG>ATG	p.V407M	SLC4A11_uc010zqe.1_Missense_Mutation_p.V434M|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.V391M	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	407	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			ovary(1)	1						GTCTTCTGCACGTCTGTGGGG	0.711													T	3211489	C	T	3211489	3	4	226	1	0	0	0	0	1	0	0	0	14652	536	19	1	1496	1	SLC4A11	20	3211489	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	827168	3211489	59814031	308	114754											
ESF1	51575	broad.mit.edu	37	chr20	13763319	13763319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtaaattctttgctatcCttcttcggacttatgtttga	7	7	2	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:13763319C>A	uc002woj.2	-	2	576	c.468G>T	c.(466-468)AAG>AAT	p.K156N	ESF1_uc002wok.1_Missense_Mutation_p.K156N|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	156	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						CTTTGCTATCCTTCTTCGGAC	0.274													A	13763319	C	A	13763319	3	1	226	1	0	0	0	0	1	0	0	0	5251	680	24	5	2139	5	ESF1	20	13763319	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	10551830	13763319	49262201	309	114755											
CBFA2T2	9139	broad.mit.edu	37	chr20	32224501	32224501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatacgtacctgtggagttTtggaaaaaaacaggtatgtg	13	4	0	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:32224501T>C	uc002wzg.1	+	10	1848	c.1311T>C	c.(1309-1311)TTT>TTC	p.F437F	CBFA2T2_uc010zug.1_Silent_p.F211F|CBFA2T2_uc002wze.1_Silent_p.F428F|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.F408F|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_5'Flank	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	437						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CTGTGGAGTTTTGGAAAAAAA	0.438													C	32224501	T	C	32224501	2	2	226	1	0	0	0	0	0	0	0	1	2697	1838	64	3		3	CBFA2T2	20	32224501	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	18461182	32224501	30801019	310	114756											
RALGAPB	57148	broad.mit.edu	37	chr20	37174983	37174983	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattaaatactccaggctgCcaaccataaacaagcatagt	6	10	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:37174983C>A	uc002xiw.2	+	19	3069	c.2812C>A	c.(2812-2814)CCA>ACA	p.P938T	RALGAPB_uc002xix.2_Missense_Mutation_p.P934T|RALGAPB_uc002xiy.1_Missense_Mutation_p.P938T|RALGAPB_uc002xiz.2_Missense_Mutation_p.P716T|RALGAPB_uc002xja.1_Missense_Mutation_p.P665T	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	938					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CTCCAGGCTGCCAACCATAAA	0.443													A	37174983	C	A	37174983	3	1	226	1	0	0	0	0	1	0	0	0	13015	739	26	5	2882	5	RALGAPB	20	37174983	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	4950482	37174983	25850537	311	114757											
PTPRT	11122	broad.mit.edu	37	chr20	40790084	40790084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggatggcgggttggaactGgtcccgggggtagctcatct	17	10	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:40790084G>T	uc002xkg.2	-	17	2774	c.2590C>A	c.(2590-2592)CAG>AAG	p.Q864K	PTPRT_uc010ggj.2_Missense_Mutation_p.Q883K|PTPRT_uc010ggi.2_Missense_Mutation_p.Q67K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	864	Cytoplasmic (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTTGGAACTGGTCCCGGGGG	0.612													T	40790084	G	T	40790084	3	4	226	1	0	0	0	0	1	0	0	0	12812	1357	47	5	1795	5	PTPRT	20	40790084	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3615101	40790084	22235436	312	114758											
CYP24A1	1591	broad.mit.edu	37	chr20	52774059	52774059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaacgttcaggtctaaaCtgacttgaatcttcaaaatt	6	9	4	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:52774059C>T	uc002xwv.2	-	10	1700	c.1302G>A	c.(1300-1302)CAG>CAA	p.Q434Q	CYP24A1_uc002xwu.1_Silent_p.Q292Q|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	434					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGGTCTAAACTGACTTGAAT	0.398													T	52774059	C	T	52774059	2	4	226	1	0	0	0	0	0	0	0	1	4154	564	20	4		4	CYP24A1	20	52774059	Silent	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	11983975	52774059	10251461	313	114759											
OPRL1	4987	broad.mit.edu	37	chr20	62724306	62724306	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgtacgtcatcctcaGgtaggctgggccccaaggtt	12	11	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr20:62724306G>T	uc002yic.2	+	3	635	c.233G>T	c.(232-234)AGG>ATG	p.R78M	OPRL1_uc002yid.2_Missense_Mutation_p.R78M|OPRL1_uc002yif.3_Intron	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	78	Cytoplasmic (Potential).				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)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTCATCCTCAGGTAGGCTGGG	0.622													T	62724306	G	T	62724306	3	4	226	1	0	0	0	0	1	0	0	0	10886	1014	35	5	235	5	OPRL1	20	62724306	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	9950247	62724306	301214	314	114760											
DOPEY2	9980	broad.mit.edu	37	chr21	37617880	37617880	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgacgaggaggcggacttggAgctccaggccctcaccacat	13	14	1	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr21:37617880A>T	uc002yvg.2	+	19	3681	c.3602A>T	c.(3601-3603)GAG>GTG	p.E1201V	DOPEY2_uc011aeb.1_Missense_Mutation_p.E1150V|DOPEY2_uc002yvh.2_Missense_Mutation_p.E52V	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1201					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GCGGACTTGGAGCTCCAGGCC	0.617													T	37617880	A	T	37617880	3	4	226	1	0	0	0	0	1	0	0	0	4708	304	11	5	3672	5	DOPEY2	21	37617880	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08		37617880	10512015	315	114761											
RSPH1	89765	broad.mit.edu	37	chr21	43916250	43916257	+	Frame_Shift_Del	DEL	TCATTCTC	TCATTCTC	-													caggagctctcaccccaataTcattctctccctcctcctcc							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr21:43916250_43916257delTCATTCTC	uc002zbg.2	-	1	145_152	c.40_47delGAGAATGA	c.(40-48)GAGAATGATfs	p.E14fs	SLC37A1_uc002zbh.1_RNA	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	14_16					meiosis	cytosol|nucleus				ovary(1)	1						CACCCCAATATCATTCTCTCCCTCCTCC	0.635													-	43916257	TCATTCTC	-	43916250	7	5	226	1	0	1	0	1	0	0	0	0	13702	1435	50	0	918	0	RSPH1	21	43916250	Frame_Shift_Del	DEL	TCATTCTC	TCGA-D7-A4YT-01A-11D-A25D-08	6298370	43916250	4213645	316	114762											
PCNT	5116	broad.mit.edu	37	chr21	47786946	47786946	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcaagagttggagaaactGaagcggaaacacgaagggga	14	6	1	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr21:47786946G>A	uc002zji.3	+	15	3164	c.3057G>A	c.(3055-3057)CTG>CTA	p.L1019L	PCNT_uc002zjj.2_Silent_p.L901L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1019	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TGGAGAAACTGAAGCGGAAAC	0.547													A	47786946	G	A	47786946	2	1	226	1	0	0	0	0	0	0	0	1	11590	1277	45	4		4	PCNT	21	47786946	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	3870696	47786946	342949	317	114763											
OR11H1	81061	broad.mit.edu	37	chr22	16448951	16448952	+	Frame_Shift_Ins	INS	-	-	T													caaagtttcaattttctgcaINStccctgtagaatgtccgagt							TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr22:16448951_16448952insT	uc011agd.1	-	1	853_854	c.853_854insA	c.(853-855)ATGfs	p.M285fs		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H,	285	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AATTTTCTGCATCCCTGTAGAA	0.465													T	16448952	-	T	16448951	7	5	226	1	0	1	1	0	0	0	0	0	10926	217	8	0	128	0	OR11H1	22	16448951	Frame_Shift_Ins	INS	-	TCGA-D7-A4YT-01A-11D-A25D-08		16448951	34855615	318	114764											
IL17RA	23765	broad.mit.edu	37	chr22	17577950	17577950	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccaccctcttttttccacAggggctaaactgcacggtca	7	14	2	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr22:17577950A>T	uc002zly.2	+	2	272	c.139_splice	c.e2-2	p.G47_splice	IL17RA_uc010gqt.2_Splice_Site_p.G47_splice	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor						fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TTTTTTCCACAGGGGCTAAAC	0.463													T	17577950	A	T	17577950	5	4	226	1	0	0	0	0	0	0	1	0	7639	202	7	5	143	5	IL17RA	22	17577950	Splice_Site	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	1128999	17577950	33726616	319	114765											
APOL5	80831	broad.mit.edu	37	chr22	36123193	36123193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagccagacctgttccAgctcccggggcagggctgtt	15	13	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr22:36123193A>G	uc003aof.2	+	3	1078	c.1078A>G	c.(1078-1080)AGC>GGC	p.S360G		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	360					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						GACCTGTTCCAGCTCCCGGGG	0.587													G	36123193	A	G	36123193	3	3	226	1	0	0	0	0	1	0	0	0	809	188	7	3	1088	3	APOL5	22	36123193	Missense_Mutation	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	18545243	36123193	15181373	320	114766											
CYTH4	27128	broad.mit.edu	37	chr22	37690712	37690712	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accccacagaagctgaaggaTgagattgcagatgtgtttgc	12	8	0	4			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr22:37690712T>A	uc003arf.2	+	3	230	c.114T>A	c.(112-114)GAT>GAA	p.D38E	CYTH4_uc003ard.3_Missense_Mutation_p.D38E|CYTH4_uc003are.2_Missense_Mutation_p.D38E|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	38	Potential.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						AGCTGAAGGATGAGATTGCAG	0.607													A	37690712	T	A	37690712	3	1	226	1	0	0	0	0	1	0	0	0	4206	1461	51	5	124	5	CYTH4	22	37690712	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	1567519	37690712	13613854	321	114767											
MICALL1	85377	broad.mit.edu	37	chr22	38322052	38322052	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgcgtccccactgggTgagtgcctttcctggagctc	12	16	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr22:38322052T>C	uc003aui.2	+	8	1549	c.1465_splice	c.e8+2	p.A489_splice		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13							cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CCCCACTGGGTGAGTGCCTTT	0.627													C	38322052	T	C	38322052	5	2	226	1	0	0	0	0	0	0	1	0	9573	1710	59	3	1497	3	MICALL1	22	38322052	Splice_Site	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	631340	38322052	12982514	322	114768											
PHF21B	112885	broad.mit.edu	37	chr22	45312274	45312274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggtggagatgatggcGtaggccacccccgcactgct	17	11	0	2	rs115694109	byFrequency	TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chr22:45312274G>A	uc003bfn.2	-	4	601	c.450C>T	c.(448-450)TAC>TAT	p.Y150Y	PHF21B_uc003bfm.2_Translation_Start_Site|PHF21B_uc011aqk.1_Silent_p.Y138Y|PHF21B_uc011aql.1_Silent_p.Y150Y|PHF21B_uc011aqm.1_Silent_p.Y138Y	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	150							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGATGATGGCGTAGGCCACCC	0.692													A	45312274	G	A	45312274	2	1	226	1	0	0	0	0	0	0	0	1	11834	1140	40	1		1	PHF21B	22	45312274	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	6990222	45312274	5992292	323	114769											
FAM9B	171483	broad.mit.edu	37	chrX	8995918	8995918	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagaacagacctttacgaaTtggtcacgtagcagcttcat	8	9	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:8995918T>C	uc011mhu.1	-	6	572	c.483A>G	c.(481-483)CAA>CAG	p.Q161Q	FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Silent_p.Q201Q	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	161						nucleus					0		Hepatocellular(5;0.219)				CCTTTACGAATTGGTCACGTA	0.363													C	8995918	T	C	8995918	2	2	226	1	0	0	0	0	0	0	0	1	5660	1490	52	3		3	FAM9B	23	8995918	Silent	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08		8995918	146274642	324	114770											
ARHGAP6	395	broad.mit.edu	37	chrX	11162130	11162130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttggtccaggagaactttCccttgactttgacgacgaca	9	12	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:11162130C>T	uc004cup.1	-	11	3019	c.2146G>A	c.(2146-2148)GAA>AAA	p.E716K	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.E716K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E513K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E536K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E538K|ARHGAP6_uc011mif.1_3'UTR	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	716					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			urinary_tract(1)|lung(1)	2						GGAGAACTTTCCCTTGACTTT	0.592											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11162130	C	T	11162130	3	4	226	1	0	0	0	0	1	0	0	0	887	864	30	4	912	4	ARHGAP6	23	11162130	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	2166212	11162130	144108430	325	114771											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29301315	29301315	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cattgctacaggacagtggtCtctacgcctgtgtcatcagg	11	11	3	0			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:29301315C>T	uc004dby.2	+	3	851	c.343C>T	c.(343-345)CTC>TTC	p.L115F		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	115	Ig-like C2-type 1.|Extracellular (Potential).				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			ovary(3)|lung(1)|pancreas(1)	5						GGACAGTGGTCTCTACGCCTG	0.438													T	29301315	C	T	29301315	3	4	226	1	0	0	0	0	1	0	0	0	7661	913	32	4	349	4	IL1RAPL1	23	29301315	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	18139185	29301315	125969245	326	114772											
WDR13	64743	broad.mit.edu	37	chrX	48460231	48460231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaggcaagaaagtgaaGgggggctccagcaagctgac	14	10	0	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:48460231G>A	uc004dkh.1	+	7	1038	c.891G>A	c.(889-891)AAG>AAA	p.K297K	WDR13_uc010nif.1_Silent_p.K175K|WDR13_uc004dki.1_Silent_p.K205K|WDR13_uc004dkj.1_Silent_p.K297K|WDR13_uc004dkk.1_Silent_p.K205K|WDR13_uc004dkl.3_Silent_p.K205K	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	297						cytoplasm|nucleus				ovary(2)	2						AGAAAGTGAAGGGGGGCTCCA	0.582													A	48460231	G	A	48460231	2	1	226	1	0	0	0	0	0	0	0	1	17272	991	35	4		4	WDR13	23	48460231	Silent	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	19158916	48460231	106810329	327	114773											
GATA1	2623	broad.mit.edu	37	chrX	48651642	48651642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccaccacgacactgtggCggagaaatgccagtggggat	14	11	0	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:48651642C>T	uc004dkq.3	+	5	899	c.808C>T	c.(808-810)CGG>TGG	p.R270W		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	270	GATA-type 2.				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						GACACTGTGGCGGAGAAATGC	0.602			Mis|F		megakaryoblastic leukemia of Downs Syndrome								T	48651642	C	T	48651642	3	4	226	1	0	0	0	0	1	0	0	0	6253	759	27	1	822	1	GATA1	23	48651642	Missense_Mutation	SNP	C	TCGA-D7-A4YT-01A-11D-A25D-08	191411	48651642	106618918	328	114774											
PGK1	5230	broad.mit.edu	37	chrX	77378856	77378856	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccactgtggcttctggcatAcctgctggctggatggtgag	15	10	1	1			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:77378856A>T	uc004ecz.3	+	8	1093	c.921A>T	c.(919-921)ATA>ATT	p.I307I	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Silent_p.I279I	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	307					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						CTTCTGGCATACCTGCTGGCT	0.463													T	77378856	A	T	77378856	2	4	226	1	0	0	0	0	0	0	0	1	11790	381	14	5		5	PGK1	23	77378856	Silent	SNP	A	TCGA-D7-A4YT-01A-11D-A25D-08	28727214	77378856	77891704	329	114775											
CYLC1	1538	broad.mit.edu	37	chrX	83129174	83129174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagaatctactgaaatGgaatctgatttggagttaaa	9	4	2	3			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:83129174G>A	uc004eei.1	+	4	1479	c.1458G>A	c.(1456-1458)ATG>ATA	p.M486I	CYLC1_uc004eeh.1_Missense_Mutation_p.M485I	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	486	6.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CTACTGAAATGGAATCTGATT	0.338													A	83129174	G	A	83129174	3	1	226	1	0	0	0	0	1	0	0	0	4141	1348	47	4	1472	4	CYLC1	23	83129174	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	5750318	83129174	72141386	330	114776											
ZNF711	7552	broad.mit.edu	37	chrX	84526498	84526498	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaagattcatcagtgcagGcactgtgactttaaaacatc	9	8	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:84526498G>C	uc004eeo.2	+	9	2297	c.1950G>C	c.(1948-1950)AGG>AGC	p.R650S	ZNF711_uc004eep.2_Missense_Mutation_p.R650S|ZNF711_uc004eeq.2_Missense_Mutation_p.R696S|ZNF711_uc011mqy.1_Missense_Mutation_p.R249S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	650	C2H2-type 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						ATCAGTGCAGGCACTGTGACT	0.393													C	84526498	G	C	84526498	3	2	226	1	0	0	0	0	1	0	0	0	18113	1194	42	5	1976	5	ZNF711	23	84526498	Missense_Mutation	SNP	G	TCGA-D7-A4YT-01A-11D-A25D-08	1397324	84526498	70744062	331	114777											
AFF2	2334	broad.mit.edu	37	chrX	148037909	148037909	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgaagagccaacattTtcacctattcctgtcatgca	6	10	2	2			TCGA-D7-A4YT-01A-11D-A25D-08	TCGA-D7-A4YT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16cadc2-52ef-49b2-8cec-8929f4719d95	1cfe678d-c4cf-457a-8958-7c915f02eef7	g.chrX:148037909T>A	uc004fcp.2	+	11	2813	c.2334T>A	c.(2332-2334)TTT>TTA	p.F778L	AFF2_uc004fcq.2_Missense_Mutation_p.F768L|AFF2_uc004fcr.2_Missense_Mutation_p.F739L|AFF2_uc011mxb.1_Missense_Mutation_p.F743L|AFF2_uc004fcs.2_Missense_Mutation_p.F745L|AFF2_uc011mxc.1_Missense_Mutation_p.F419L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	778					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAACATTTTCACCTATTC	0.453													A	148037909	T	A	148037909	3	1	226	1	0	0	0	0	1	0	0	0	357	1838	64	5	2431	5	AFF2	23	148037909	Missense_Mutation	SNP	T	TCGA-D7-A4YT-01A-11D-A25D-08	63511411	148037909	7232651	332	114778											
CA6	765	broad.mit.edu	37	chr1	9030988	9030988	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatccacaacgattaccgCaggacccagcccctgaacca	6	18	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:9030988C>A	uc001apm.2	+	7	816	c.792C>A	c.(790-792)CGC>CGA	p.R264R	CA6_uc009vmn.2_Silent_p.R204R	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	264					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		ACGATTACCGCAGGACCCAGC	0.522													A	9030988	C	A	9030988	2	1	227	1	0	0	0	0	0	0	0	1	2521	697	25	5		5	CA6	1	9030988	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		9030988	240219633	1	114779											
ARID1A	8289	broad.mit.edu	37	chr1	27100390	27100390	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtatcaacagcaacagcagGtgaggagggtagctgggaat	15	6	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:27100390G>C	uc001bmv.1	+	17	4474	c.4101_splice	c.e17+1	p.Q1367_splice	ARID1A_uc001bmt.1_Splice_Site_p.Q1366_splice|ARID1A_uc001bmu.1_Splice_Site_p.Q1367_splice|ARID1A_uc001bmw.1_Splice_Site_p.Q984_splice|ARID1A_uc001bmx.1_Splice_Site_p.Q213_splice|ARID1A_uc009vsm.1_Splice_Site|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a						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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		GCAACAGCAGGTGAGGAGGGT	0.483			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								C	27100390	G	C	27100390	5	2	227	1	0	0	0	0	0	0	1	0	913	1275	44	5	4168	5	ARID1A	1	27100390	Splice_Site	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	18069402	27100390	222150231	2	114780											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G													gctgcactggcggattggtgINSggggggacaccactgagcat					rs140055856		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACAC	0.579			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27105932	-	G	27105931	7	5	227	1	0	1	1	0	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Ins	INS	-	TCGA-D7-A4YU-01A-21D-A25D-08	5541	27105931	222144690	3	114781											
WASF2	10163	broad.mit.edu	37	chr1	27742538	27742538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatcttctccttccAaagatcaaagaagtatgaag	7	10	3	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:27742538A>G	uc001bof.1	-	5	694	c.478T>C	c.(478-480)TGG>CGG	p.W160R	WASF2_uc010ofl.1_Missense_Mutation_p.W160R	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	160				WK->ED: Constitutive induction of the formation of actin filaments. Strongly enhances formation of lamellipodia.	actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		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)		TTCTCCTTCCAAAGATCAAAG	0.463													G	27742538	A	G	27742538	3	3	227	1	0	0	0	0	1	0	0	0	17250	130	5	3	1038	3	WASF2	1	27742538	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	636607	27742538	221508083	4	114782											
ODF2L	57489	broad.mit.edu	37	chr1	86826191	86826191	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcattttcaacagatacaActtcatccttcaaagcagca	4	11	4	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:86826191A>T	uc001dll.1	-	12	1512	c.1172T>A	c.(1171-1173)GTT>GAT	p.V391D	ODF2L_uc001dlm.1_Missense_Mutation_p.V362D|ODF2L_uc001dln.2_Missense_Mutation_p.V362D|ODF2L_uc001dlo.2_Missense_Mutation_p.V231D|ODF2L_uc001dlp.2_Missense_Mutation_p.V391D|ODF2L_uc010osg.1_Missense_Mutation_p.V362D|ODF2L_uc001dlq.1_Missense_Mutation_p.V192D|ODF2L_uc009wcr.1_Missense_Mutation_p.V231D	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	391	Potential.					centrosome				ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)		AACAGATACAACTTCATCCTT	0.294													T	86826191	A	T	86826191	3	4	227	1	0	0	0	0	1	0	0	0	10828	43	2	5	942	5	ODF2L	1	86826191	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	59083653	86826191	162424430	5	114783											
OLFM3	118427	broad.mit.edu	37	chr1	102302454	102302454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccagtagttggcgaAgttgcctgcttttggcatcc	10	11	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:102302454A>C	uc001duf.2	-	2	328	c.257T>G	c.(256-258)CTT>CGT	p.L86R	OLFM3_uc001dug.2_Missense_Mutation_p.L66R|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	86	Potential.					extracellular region				ovary(2)|skin(1)	3		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)		TAGTTGGCGAAGTTGCCTGCT	0.463													C	102302454	A	C	102302454	3	2	227	1	0	0	0	0	1	0	0	0	10854	72	3	5	1199	5	OLFM3	1	102302454	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	15476263	102302454	146948167	6	114784											
KCNA10	3744	broad.mit.edu	37	chr1	111060346	111060346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagccccttggagtggcgcGagagcttgaagatgcggaag	17	9	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:111060346G>A	uc001dzt.1	-	1	1452	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	355	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		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)		GGAGTGGCGCGAGAGCTTGAA	0.577													A	111060346	G	A	111060346	3	1	227	1	0	0	0	0	1	0	0	0	8002	1059	37	1	475	1	KCNA10	1	111060346	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	8757892	111060346	138190275	7	114785											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454003	114454003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagccgaaaaatccacagCtcccaccctgatatccacgt	5	16	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:114454003C>A	uc001eeg.2	+	4	960	c.789C>A	c.(787-789)AGC>AGA	p.S263R	DCLRE1B_uc001eeh.2_Missense_Mutation_p.S137R|DCLRE1B_uc001eei.2_Missense_Mutation_p.S137R	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	263					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				0	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)		AAATCCACAGCTCCCACCCTG	0.532								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	114454003	C	A	114454003	3	1	227	1	0	0	0	0	1	0	0	0	4295	796	28	5	803	5	DCLRE1B	1	114454003	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	3393657	114454003	134796618	8	114786											
CD5L	922	broad.mit.edu	37	chr1	157803243	157803243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccatacgcccttgtgcaGcacctccagtcgcccagagc	9	19	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:157803243G>T	uc001frk.3	-	5	921	c.778C>A	c.(778-780)CTG>ATG	p.L260M		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	260	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTTGTGCAGCACCTCCAGT	0.572													T	157803243	G	T	157803243	3	4	227	1	0	0	0	0	1	0	0	0	3027	962	34	5	273	5	CD5L	1	157803243	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	43349240	157803243	91447378	9	114787											
CD1C	911	broad.mit.edu	37	chr1	158259792	158259792	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatataggtacagagggataAgtttgctaagaacagagatc	11	4	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:158259792A>T	uc001fru.2	+	1	230	c.-62A>T	c.(-64--60)TAAGT>TATGT		CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor						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			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CAGAGGGATAAGTTTGCTAAG	0.438													T	158259792	A	T	158259792	1	4	227	1	0	0	0	0	0	0	0	0	2976	87	3	5		5	CD1C	1	158259792	Translation_Start_Site	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	456549	158259792	90990829	10	114788											
SPTA1	6708	broad.mit.edu	37	chr1	158606546	158606546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcactcgtatcaacTtctccctaaaatcaaggaag	8	11	4	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:158606546T>G	uc001fst.1	-	37	5394	c.5195A>C	c.(5194-5196)AAG>ACG	p.K1732T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1732	Spectrin 17.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGTATCAACTTCTCCCTAAA	0.473													G	158606546	T	G	158606546	3	3	227	1	0	0	0	0	1	0	0	0	15115	1609	56	5	2128	5	SPTA1	1	158606546	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	346754	158606546	90644075	11	114789											
SPTA1	6708	broad.mit.edu	37	chr1	158607915	158607915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgcagctgccaattcTtggacattcaggaaacgctt	11	9	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:158607915T>C	uc001fst.1	-	36	5296	c.5097A>G	c.(5095-5097)CAA>CAG	p.Q1699Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1699	Spectrin 16.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGCCAATTCTTGGACATTCA	0.428													C	158607915	T	C	158607915	2	2	227	1	0	0	0	0	0	0	0	1	15115	1606	56	3		3	SPTA1	1	158607915	Silent	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	1369	158607915	90642706	12	114790											
CENPF	1063	broad.mit.edu	37	chr1	214816265	214816265	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgtagatgaagtattttgCagcagtctgcaggaggagaa	14	4	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:214816265C>A	uc001hkm.2	+	12	4758	c.4584C>A	c.(4582-4584)TGC>TGA	p.C1528*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1624	1-2.|2 X 96 AA approximate 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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGTATTTTGCAGCAGTCTGC	0.478													A	214816265	C	A	214816265	4	1	227	1	0	0	0	0	0	1	0	0	3231	718	25	5	4626	5	CENPF	1	214816265	Nonsense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	56208350	214816265	34434356	13	114791											
CHML	1122	broad.mit.edu	37	chr1	241798734	241798734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccaatctcttcaacgTtgtcctccatatcctgactg	6	14	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:241798734T>C	uc001hzd.2	-	1	499	c.335A>G	c.(334-336)AAC>AGC	p.N112S	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	112					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)|skin(2)	6	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTCTTCAACGTTGTCCTCCAT	0.433													C	241798734	T	C	241798734	3	2	227	1	0	0	0	0	1	0	0	0	3351	1725	60	3	1639	3	CHML	1	241798734	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	26982469	241798734	7451887	14	114792											
OR2M5	127059	broad.mit.edu	37	chr1	248308749	248308749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctggttgtgccacacaAattttcttctatgtatcact	7	9	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:248308749A>C	uc010pze.1	+	1	300	c.300A>C	c.(298-300)CAA>CAC	p.Q100H		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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)			GTGCCACACAAATTTTCTTCT	0.463													C	248308749	A	C	248308749	3	2	227	1	0	0	0	0	1	0	0	0	11013	11	1	5	302	5	OR2M5	1	248308749	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	6510015	248308749	941872	15	114793											
OR14I1	401994	broad.mit.edu	37	chr1	248845550	248845550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcagcacctgcagctccCagataccagaaaactccatc	7	16	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr1:248845550C>A	uc001ieu.1	-	1	56	c.56G>T	c.(55-57)TGG>TTG	p.W19L		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTGCAGCTCCCAGATACCAGA	0.468													A	248845550	C	A	248845550	3	1	227	1	0	0	0	0	1	0	0	0	10947	595	21	5	883	5	OR14I1	1	248845550	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	536801	248845550	405071	16	114794											
KCNK3	3777	broad.mit.edu	37	chr2	26950835	26950835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctactactactgcttcaTcaccctcaccaccatcggct	5	18	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:26950835T>C	uc002rhn.2	+	2	747	c.584T>C	c.(583-585)ATC>ACC	p.I195T		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	195					synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTGCTTCATCACCCTCACC	0.612													C	26950835	T	C	26950835	3	2	227	1	0	0	0	0	1	0	0	0	8067	1435	50	3	590	3	KCNK3	2	26950835	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08		26950835	216248538	17	114795											
SLC8A1	6546	broad.mit.edu	37	chr2	40657239	40657239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggggttcccaaatgggcAaaatcacccctttcttacag	8	12	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:40657239A>G	uc002rrx.2	-	1	206	c.182T>C	c.(181-183)TTG>TCG	p.L61S	SLC8A1_uc002rry.2_Missense_Mutation_p.L61S|SLC8A1_uc002rrz.2_Missense_Mutation_p.L61S|SLC8A1_uc002rsa.2_Missense_Mutation_p.L61S|SLC8A1_uc002rsd.3_Missense_Mutation_p.L61S|SLC8A1_uc002rsb.1_Missense_Mutation_p.L61S|SLC8A1_uc010fan.1_Missense_Mutation_p.L61S|SLC8A1_uc002rsc.1_Missense_Mutation_p.L61S	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	61	Extracellular (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCAAATGGGCAAAATCACCCC	0.428													G	40657239	A	G	40657239	3	3	227	1	0	0	0	0	1	0	0	0	14706	131	5	3	2887	3	SLC8A1	2	40657239	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	13706404	40657239	202542134	18	114796											
PREPL	9581	broad.mit.edu	37	chr2	44554027	44554027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgagttttttagttaggcGgccatcagcgtgccactgga	12	8	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:44554027G>A	uc002ruf.2	-	10	1605	c.1570C>T	c.(1570-1572)CGC>TGC	p.R524C	PREPL_uc002rug.2_Missense_Mutation_p.R458C|PREPL_uc002ruh.2_Missense_Mutation_p.R462C|PREPL_uc010fax.2_Missense_Mutation_p.R524C|PREPL_uc002rui.3_Missense_Mutation_p.R435C|PREPL_uc002ruj.1_Missense_Mutation_p.R435C|PREPL_uc002ruk.1_Missense_Mutation_p.R524C	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	524					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTAGTTAGGCGGCCATCAGCG	0.453													A	44554027	G	A	44554027	3	1	227	1	0	0	0	0	1	0	0	0	12475	1116	39	1	633	1	PREPL	2	44554027	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	3896788	44554027	198645346	19	114797											
PNPT1	87178	broad.mit.edu	37	chr2	55920812	55920812	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttacctgttgcctaagtcCacggccacagctcgagaccc	8	17	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:55920812C>G	uc002rzf.2	-	1	200	c.147G>C	c.(145-147)GTG>GTC	p.V49V	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	49					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGCCTAAGTCCACGGCCACAG	0.562													G	55920812	C	G	55920812	2	3	227	1	0	0	0	0	0	0	0	1	12173	581	21	5		5	PNPT1	2	55920812	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	11366785	55920812	187278561	20	114798											
KRCC1	51315	broad.mit.edu	37	chr2	88327339	88327339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggtcccaaagcatttcCtcctctgtcctttcttggcc	7	15	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:88327339C>T	uc002sso.1	-	4	1138	c.744G>A	c.(742-744)GAG>GAA	p.E248E	KRCC1_uc002ssp.1_Silent_p.E248E	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	248	Potential.									ovary(1)	1						AAAGCATTTCCTCCTCTGTCC	0.378													T	88327339	C	T	88327339	2	4	227	1	0	0	0	0	0	0	0	1	8441	680	24	4		4	KRCC1	2	88327339	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	32406527	88327339	154872034	21	114799											
LMAN2L	81562	broad.mit.edu	37	chr2	97400258	97400258	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactcccagtctctcaggaaAcatggctaaagtgagaaaga	9	9	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:97400258A>T	uc002swu.2	-	3	348	c.312T>A	c.(310-312)TGT>TGA	p.C104*	LMAN2L_uc002swv.2_Nonsense_Mutation_p.C104*|LMAN2L_uc010yut.1_5'UTR|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_5'UTR|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_5'UTR	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like isoform 2	104	L-type lectin-like.|Lumenal (Potential).				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding				0						CTCTCAGGAAACATGGCTAAA	0.443													T	97400258	A	T	97400258	4	4	227	1	0	0	0	0	0	1	0	0	8839	41	2	5	795	5	LMAN2L	2	97400258	Nonsense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	9072919	97400258	145799115	22	114800											
C2orf55	343990	broad.mit.edu	37	chr2	99439596	99439596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccgtggccggggcacaCgggcctgcggggggcgcctc	19	14	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:99439596C>T	uc002szf.1	-	7	1434	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	380	Pro-rich.										0						CCGGGGCACACGGGCCTGCGG	0.751													T	99439596	C	T	99439596	2	4	227	1	0	0	0	0	0	0	0	1	2176	523	19	1		1	C2orf55	2	99439596	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	2039338	99439596	143759777	23	114801											
EDAR	10913	broad.mit.edu	37	chr2	109524386	109524386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacagcaggcacagctccGgggagccctgcttgtcaggg	16	13	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:109524386G>A	uc002teq.3	-	10	1324	c.893C>T	c.(892-894)CCG>CTG	p.P298L	EDAR_uc010fjn.2_Missense_Mutation_p.P330L|EDAR_uc010yws.1_Missense_Mutation_p.P330L	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	298	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						GCACAGCTCCGGGGAGCCCTG	0.622													A	109524386	G	A	109524386	3	1	227	1	0	0	0	0	1	0	0	0	4905	1116	39	1	465	1	EDAR	2	109524386	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	10084790	109524386	133674987	24	114802											
ACOXL	55289	broad.mit.edu	37	chr2	111542390	111542390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggacatggccacaggagtgAaggtgagaggcgccgggcac	18	10	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:111542390A>G	uc002tgr.3	+	3	381	c.157A>G	c.(157-159)AAG>GAG	p.K53E	ACOXL_uc010fkc.2_Missense_Mutation_p.K53E|ACOXL_uc010yxk.1_Missense_Mutation_p.K53E	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	53					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						CACAGGAGTGAAGGTGAGAGG	0.498													G	111542390	A	G	111542390	3	3	227	1	0	0	0	0	1	0	0	0	161	247	9	3	163	3	ACOXL	2	111542390	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	2018004	111542390	131656983	25	114803											
GPR148	344561	broad.mit.edu	37	chr2	131486823	131486823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgccccaagcagccagCaacacttccttgggcctggg	11	15	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:131486823C>A	uc002trv.1	+	1	101	c.99C>A	c.(97-99)AGC>AGA	p.S33R		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	33	Extracellular (Potential).			CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1	Colorectal(110;0.1)					AAGCAGCCAGCAACACTTCCT	0.627													A	131486823	C	A	131486823	3	1	227	1	0	0	0	0	1	0	0	0	6653	709	25	5	101	5	GPR148	2	131486823	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	19944433	131486823	111712550	26	114804											
THSD7B	80731	broad.mit.edu	37	chr2	137852666	137852666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcctgcattgttgaaGgagaacttctgcagcaatgt	12	7	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:137852666G>A	uc002tva.1	+	3	1081	c.1081G>A	c.(1081-1083)GGA>AGA	p.G361R	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.G251R	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATTGTTGAAGGAGAACTTCT	0.448													A	137852666	G	A	137852666	3	1	227	1	0	0	0	0	1	0	0	0	15877	1001	35	4	1091	4	THSD7B	2	137852666	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	6365843	137852666	105346707	27	114805											
LRP1B	53353	broad.mit.edu	37	chr2	141299347	141299347	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttctattataacttaCagctattggtgtcattggca	7	7	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:141299347C>A	uc002tvj.1	-	44	8359	c.7387_splice	c.e44+1	p.C2463_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TTATAACTTACAGCTATTGGT	0.338										TSP Lung(27;0.18)			A	141299347	C	A	141299347	5	1	227	1	0	0	0	0	0	0	1	0	8955	492	17	5	6603	5	LRP1B	2	141299347	Splice_Site	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	3446681	141299347	101900026	28	114806											
BAZ2B	29994	broad.mit.edu	37	chr2	160295025	160295025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagattcctcctttgcctgaGagctttggaaaataaatgga	9	8	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:160295025G>A	uc002uao.2	-	8	1434	c.1082C>T	c.(1081-1083)TCT>TTT	p.S361F	BAZ2B_uc002uap.2_Missense_Mutation_p.S359F|BAZ2B_uc002uas.1_Missense_Mutation_p.S298F|BAZ2B_uc002uau.1_Missense_Mutation_p.S359F|BAZ2B_uc002uaq.1_Missense_Mutation_p.S289F|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.S359F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTTTGCCTGAGAGCTTTGGAA	0.443													A	160295025	G	A	160295025	3	1	227	1	0	0	0	0	1	0	0	0	1332	942	33	4	5544	4	BAZ2B	2	160295025	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	18995678	160295025	82904348	29	114807											
TTN	7273	broad.mit.edu	37	chr2	179398461	179398461	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggtttgattttctgacctGatttataccatgttacatga	7	7	1	4			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:179398461G>T	uc010zfg.1	-	307	95401	c.95177C>A	c.(95176-95178)TCA>TAA	p.S31726*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.S25421*|TTN_uc010zfi.1_Nonsense_Mutation_p.S25354*|TTN_uc010zfj.1_Nonsense_Mutation_p.S25229*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32653							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTGACCTGATTTATACCA	0.398													T	179398461	G	T	179398461	4	4	227	1	0	0	0	0	0	1	0	0	16732	1294	45	5	5118	5	TTN	2	179398461	Nonsense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	19103436	179398461	63800912	30	114808											
TTN	7273	broad.mit.edu	37	chr2	179443586	179443586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggccttcccctacaccaTatttattttcggcactgacc	5	15	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:179443586T>C	uc010zfg.1	-	269	60691	c.60467A>G	c.(60466-60468)TAT>TGT	p.Y20156C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y13851C|TTN_uc010zfi.1_Missense_Mutation_p.Y13784C|TTN_uc010zfj.1_Missense_Mutation_p.Y13659C|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21083							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTACACCATATTTATTTTC	0.458													C	179443586	T	C	179443586	3	2	227	1	0	0	0	0	1	0	0	0	16732	1406	49	3	39980	3	TTN	2	179443586	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	45125	179443586	63755787	31	114809											
HECW2	57520	broad.mit.edu	37	chr2	197185083	197185083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgaacagaagacgtaAcctccactttaaactggagg	8	10	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:197185083A>C	uc002utm.1	-	8	1148	c.965T>G	c.(964-966)GTT>GGT	p.V322G	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	322					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						AGAAGACGTAACCTCCACTTT	0.408													C	197185083	A	C	197185083	3	2	227	1	0	0	0	0	1	0	0	0	7043	43	2	5	3841	5	HECW2	2	197185083	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	17741497	197185083	46014290	32	114810											
ALS2CR12	130540	broad.mit.edu	37	chr2	202208958	202208958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcagctctgagatttGctcttctaggtcagaaatga	10	8	5	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:202208958G>T	uc010ftg.2	-	6	841	c.397C>A	c.(397-399)CAA>AAA	p.Q133K	ALS2CR12_uc002uya.3_Missense_Mutation_p.Q133K|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	133	Potential.				regulation of GTPase activity		protein binding	p.Q133H(1)		ovary(1)|breast(1)|central_nervous_system(1)	3						TCTGAGATTTGCTCTTCTAGG	0.433													T	202208958	G	T	202208958	3	4	227	1	0	0	0	0	1	0	0	0	553	1328	46	5	980	5	ALS2CR12	2	202208958	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	5023875	202208958	40990415	33	114811											
CRYGD	1421	broad.mit.edu	37	chr2	208988868	208988868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggcaggagcggaccgagtCgctgaggcccatccactgct	15	14	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:208988868C>T	uc002vcn.3	-	2	336	c.220G>A	c.(220-222)GAC>AAC	p.D74N		NM_006891	NP_008822	P07320	CRGD_HUMAN	crystallin, gamma D	74	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGGACCGAGTCGCTGAGGCCC	0.612													T	208988868	C	T	208988868	3	4	227	1	0	0	0	0	1	0	0	0	3917	884	31	1	312	1	CRYGD	2	208988868	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	6779910	208988868	34210505	34	114812											
ERBB4	2066	broad.mit.edu	37	chr2	212251789	212251789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccctgtgccacaggagcTtctggaattgtgctagttgg	13	10	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:212251789T>C	uc002veg.1	-	27	3368	c.3270A>G	c.(3268-3270)GAA>GAG	p.E1090E	ERBB4_uc002veh.1_Silent_p.E1074E|ERBB4_uc010zji.1_Silent_p.E1080E|ERBB4_uc010zjj.1_Silent_p.E1064E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1090	Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		CCACAGGAGCTTCTGGAATTG	0.502										TSP Lung(8;0.080)			C	212251789	T	C	212251789	2	2	227	1	0	0	0	0	0	0	0	1	5209	1606	56	3		3	ERBB4	2	212251789	Silent	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	3262921	212251789	30947584	35	114813											
CRYBA2	1412	broad.mit.edu	37	chr2	219856890	219856890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgccactccaggcGctccagcgaggatagtctcc	11	16	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:219856890G>A	uc002vjj.1	-	3	272	c.237C>T	c.(235-237)AGC>AGT	p.S79S	CRYBA2_uc002vjk.1_Silent_p.S79S	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	79	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACTCCAGGCGCTCCAGCGAG	0.612													A	219856890	G	A	219856890	2	1	227	1	0	0	0	0	0	0	0	1	3908	1078	38	1		1	CRYBA2	2	219856890	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	7605101	219856890	23342483	36	114814											
DNER	92737	broad.mit.edu	37	chr2	230223363	230223363	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggccgggatttctttcCaaacctgaaatcagagagaa	10	9	2	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:230223363C>A	uc002vpv.2	-	13	2254	c.2107G>T	c.(2107-2109)GGA>TGA	p.G703*		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	703	Cytoplasmic (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GATTTCTTTCCAAACCTGAAA	0.363													A	230223363	C	A	230223363	4	1	227	1	0	0	0	0	0	1	0	0	4667	603	21	5	110	5	DNER	2	230223363	Nonsense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	10366473	230223363	12976010	37	114815											
SP100	6672	broad.mit.edu	37	chr2	231371021	231371021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttggtcttacaggaaCctcaaagaagtgtatacaga	9	8	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:231371021C>A	uc002vqt.2	+	22	2015	c.1874C>A	c.(1873-1875)ACC>AAC	p.T625N	SP100_uc002vqs.2_Missense_Mutation_p.T625N|SP100_uc002vqu.1_Missense_Mutation_p.T625N|SP100_uc010fxp.1_5'UTR	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	625	SAND.				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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		CTTACAGGAACCTCAAAGAAG	0.507													A	231371021	C	A	231371021	3	1	227	1	0	0	0	0	1	0	0	0	14960	507	18	5	1960	5	SP100	2	231371021	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1147658	231371021	11828352	38	114816											
ANO7	50636	broad.mit.edu	37	chr2	242155602	242155602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaggggccctgggaggacGactatgagcttgtgccctgt	16	11	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr2:242155602G>A	uc002wax.2	+	19	2186	c.2083G>A	c.(2083-2085)GAC>AAC	p.D695N		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	695	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CTGGGAGGACGACTATGAGCT	0.627													A	242155602	G	A	242155602	3	1	227	1	0	0	0	0	1	0	0	0	702	1058	37	1	2229	1	ANO7	2	242155602	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	10784581	242155602	1043771	39	114817											
SUMF1	285362	broad.mit.edu	37	chr3	4494657	4494657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaatagtaactctcctcGcaggtgcttccccatcctgc	6	16	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:4494657G>A	uc003bpz.1	-	2	372	c.347C>T	c.(346-348)GCG>GTG	p.A116V	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.A116V|SUMF1_uc010hby.1_Missense_Mutation_p.A116V|SUMF1_uc011ast.1_Missense_Mutation_p.A116V	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	116						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		AACTCTCCTCGCAGGTGCTTC	0.438													A	4494657	G	A	4494657	3	1	227	1	0	0	0	0	1	0	0	0	15382	1087	38	1	809	1	SUMF1	3	4494657	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		4494657	193527773	40	114818											
ARPP21	10777	broad.mit.edu	37	chr3	35778739	35778739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagtcagcagcccctgcGaagcgccatggtggggcagt	14	14	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:35778739G>A	uc003cgb.2	+	16	1793	c.1529G>A	c.(1528-1530)CGA>CAA	p.R510Q	ARPP21_uc003cga.2_Missense_Mutation_p.R456Q|ARPP21_uc011axy.1_Missense_Mutation_p.R476Q|ARPP21_uc003cgf.2_Missense_Mutation_p.R311Q|ARPP21_uc003cgg.2_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	510	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CAGCCCCTGCGAAGCGCCATG	0.612													A	35778739	G	A	35778739	3	1	227	1	0	0	0	0	1	0	0	0	978	1058	37	1	1596	1	ARPP21	3	35778739	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	31284082	35778739	162243691	41	114819											
XIRP1	165904	broad.mit.edu	37	chr3	39229243	39229243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcgttcctgctgctccCgttggtggatcatctccagg	11	13	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:39229243C>T	uc003cjk.1	-	2	1915	c.1694G>A	c.(1693-1695)CGG>CAG	p.R565Q	XIRP1_uc003cji.2_Missense_Mutation_p.R565Q|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	565	Interaction with CTNNB1 (By similarity).						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGCTGCTCCCGTTGGTGGAT	0.622													T	39229243	C	T	39229243	3	4	227	1	0	0	0	0	1	0	0	0	17426	652	23	1	3841	1	XIRP1	3	39229243	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	3450504	39229243	158793187	42	114820											
RHOA	387	broad.mit.edu	37	chr3	49412900	49412900	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctcgatatctgccacataGttctcaaacactgtgggcac	7	13	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:49412900G>C	uc003cwu.2	-	2	399	c.123C>G	c.(121-123)AAC>AAG	p.N41K	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	41	Effector region (Potential).				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			ovary(2)	2				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)	CTGCCACATAGTTCTCAAACA	0.438													C	49412900	G	C	49412900	3	2	227	1	0	0	0	0	1	0	0	0	13331	1020	36	5	474	5	RHOA	3	49412900	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	10183657	49412900	148609530	43	114821											
AMIGO3	386724	broad.mit.edu	37	chr3	49756171	49756171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtactcgcgcgcaaagtcgCgcacggcgctcaggccccgc	13	18	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:49756171C>T	uc003cxj.2	-	1	1068	c.728G>A	c.(727-729)CGC>CAC	p.R243H	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	243	Extracellular (Potential).|LRRCT.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGCAAAGTCGCGCACGGCGCT	0.637													T	49756171	C	T	49756171	3	4	227	1	0	0	0	0	1	0	0	0	577	768	27	1	790	1	AMIGO3	3	49756171	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	343271	49756171	148266259	44	114822											
PBRM1	55193	broad.mit.edu	37	chr3	52702550	52702550	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattgttaaaaagaagctgGaagtcagcagtcagcaaatt	10	6	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:52702550G>A	uc003des.2	-	3	360	c.348C>T	c.(346-348)TTC>TTT	p.F116F	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.F116F|PBRM1_uc003der.2_Silent_p.F116F|PBRM1_uc003det.2_Silent_p.F116F|PBRM1_uc003deu.2_Silent_p.F116F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.F116F|PBRM1_uc010hmk.1_Silent_p.F116F|PBRM1_uc003dey.2_Silent_p.F116F|PBRM1_uc003dez.1_Silent_p.F116F|PBRM1_uc003dfb.1_Silent_p.F14F	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	116	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				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)		AAAGAAGCTGGAAGTCAGCAG	0.303			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								A	52702550	G	A	52702550	2	1	227	1	0	0	0	0	0	0	0	1	11491	1165	41	4		4	PBRM1	3	52702550	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	2946379	52702550	145319880	45	114823											
C3orf64	285203	broad.mit.edu	37	chr3	69028852	69028852	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagtctggaaggaaaAgtaaatgggtcagaccagct	12	9	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:69028852A>C	uc003dnl.2	-	16	1706	c.1301T>G	c.(1300-1302)CTT>CGT	p.L434R	C3orf64_uc003dnj.2_Missense_Mutation_p.L113R|C3orf64_uc003dnk.2_Missense_Mutation_p.L350R|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	434						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TGGAAGGAAAAGTAAATGGGT	0.408													C	69028852	A	C	69028852	3	2	227	1	0	0	0	0	1	0	0	0	2240	72	3	5	294	5	C3orf64	3	69028852	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	16326302	69028852	128993578	46	114824											
ZPLD1	131368	broad.mit.edu	37	chr3	102187912	102187912	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacaagaatcagaaaaTgtccactgtcttcttgcact	6	10	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:102187912T>A	uc003dvs.1	+	15	1748	c.866T>A	c.(865-867)ATG>AAG	p.M289K	ZPLD1_uc003dvt.1_Missense_Mutation_p.M305K|ZPLD1_uc011bhg.1_Missense_Mutation_p.M289K	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	289	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						AATCAGAAAATGTCCACTGTC	0.468													A	102187912	T	A	102187912	3	1	227	1	0	0	0	0	1	0	0	0	18218	1464	51	5	944	5	ZPLD1	3	102187912	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	33159060	102187912	95834518	47	114825											
BBX	56987	broad.mit.edu	37	chr3	107474490	107474490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctgagcctgtaaaaCgctgtggaaagtctgcactc	13	9	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:107474490C>T	uc010hpr.2	+	10	1198	c.871C>T	c.(871-873)CGC>TGC	p.R291C	BBX_uc003dwk.3_Missense_Mutation_p.R291C|BBX_uc003dwl.3_Missense_Mutation_p.R291C|BBX_uc010hps.1_Missense_Mutation_p.R312C|BBX_uc003dwm.3_Missense_Mutation_p.R291C	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCCTGTAAAACGCTGTGGAAA	0.383													T	107474490	C	T	107474490	3	4	227	1	0	0	0	0	1	0	0	0	1343	536	19	1	897	1	BBX	3	107474490	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	5286578	107474490	90547940	48	114826											
BOC	91653	broad.mit.edu	37	chr3	113002434	113002434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccatcgttctcatcatcGtcaccttcatccccttctgc	4	18	5	0	rs116501937	by1000genomes	TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:113002434G>A	uc003dzx.2	+	16	3229	c.2608G>A	c.(2608-2610)GTC>ATC	p.V870I	BOC_uc003dzy.2_Missense_Mutation_p.V870I|BOC_uc003dzz.2_Missense_Mutation_p.V871I|BOC_uc003eab.2_Missense_Mutation_p.V571I|BOC_uc003eac.2_Missense_Mutation_p.V185I	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	870	Helical; (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCTCATCATCGTCACCTTCAT	0.607													A	113002434	G	A	113002434	3	1	227	1	0	0	0	0	1	0	0	0	1481	1145	40	1	2662	1	BOC	3	113002434	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	5527944	113002434	85019996	49	114827											
TIGIT	201633	broad.mit.edu	37	chr3	114014537	114014537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcttctggccatttgTaatgctgacttggggtggca	13	9	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:114014537T>G	uc003ebg.1	+	2	241	c.207T>G	c.(205-207)TGT>TGG	p.C69W		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	69	Extracellular (Potential).|Ig-like V-type.				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			central_nervous_system(1)	1						TGGCCATTTGTAATGCTGACT	0.577													G	114014537	T	G	114014537	3	3	227	1	0	0	0	0	1	0	0	0	15899	1644	57	5	213	5	TIGIT	3	114014537	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	1012103	114014537	84007893	50	114828											
NPHP3	27031	broad.mit.edu	37	chr3	132418811	132418811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgatgctgccttgatgaCgagcagagagtttttccagc	12	8	0	5			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:132418811C>T	uc003epe.1	-	12	1915	c.1838G>A	c.(1837-1839)CGT>CAT	p.R613H	NPHP3_uc003epd.1_5'UTR|NPHP3_uc003epf.1_Missense_Mutation_p.R368H	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	613					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			ovary(1)	1						GCCTTGATGACGAGCAGAGAG	0.418													T	132418811	C	T	132418811	3	4	227	1	0	0	0	0	1	0	0	0	10580	536	19	1	2218	1	NPHP3	3	132418811	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	18404274	132418811	65603619	51	114829											
SLCO2A1	6578	broad.mit.edu	37	chr3	133653654	133653654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcccagcgccttgtagCccatctgcaggcccaggtac	11	16	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:133653654C>T	uc003eqa.3	-	14	2109	c.1835G>A	c.(1834-1836)GGC>GAC	p.G612D	SLCO2A1_uc003eqb.3_Missense_Mutation_p.G536D	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	612	Helical; Name=12; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						CGCCTTGTAGCCCATCTGCAG	0.622													T	133653654	C	T	133653654	3	4	227	1	0	0	0	0	1	0	0	0	14726	739	26	2	100	2	SLCO2A1	3	133653654	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1234843	133653654	64368776	52	114830											
MED12L	116931	broad.mit.edu	37	chr3	150877793	150877793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagccctggcccccccGgccctggcatgagccccgtg	11	23	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:150877793G>A	uc003eyp.2	+	7	1050	c.1012G>A	c.(1012-1014)GGC>AGC	p.G338S	MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Missense_Mutation_p.G338S|MED12L_uc003eyo.2_Missense_Mutation_p.G338S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	338					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGCCCCCCCGGCCCTGGCAT	0.587													A	150877793	G	A	150877793	3	1	227	1	0	0	0	0	1	0	0	0	9429	1116	39	1	1038	1	MED12L	3	150877793	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	17224139	150877793	47144637	53	114831											
MED12L	116931	broad.mit.edu	37	chr3	151095885	151095885	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaagagtgctgaaagccGctggggaagagctggagaag	18	5	0	4			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:151095885G>T	uc003eyp.2	+	29	4335	c.4297G>T	c.(4297-4299)GCT>TCT	p.A1433S	MED12L_uc011bnz.1_Missense_Mutation_p.A1293S|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A596S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1433					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGAAAGCCGCTGGGGAAGA	0.532													T	151095885	G	T	151095885	3	4	227	1	0	0	0	0	1	0	0	0	9429	1087	38	5	4411	5	MED12L	3	151095885	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	218092	151095885	46926545	54	114832											
SCHIP1	29970	broad.mit.edu	37	chr3	159614519	159614519	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattgttttacagacatgctGaaagtcagcagaagcacatg	9	7	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:159614519G>T	uc003fcs.1	+	8	1486	c.1420G>T	c.(1420-1422)GAA>TAA	p.E474*	SCHIP1_uc003fcq.1_Nonsense_Mutation_p.E550*|SCHIP1_uc003fcr.1_Nonsense_Mutation_p.E463*|SCHIP1_uc003fct.1_Nonsense_Mutation_p.E461*|SCHIP1_uc003fcu.1_Nonsense_Mutation_p.E231*|SCHIP1_uc003fcv.1_Nonsense_Mutation_p.E247*	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	474						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			CAGACATGCTGAAAGTCAGCA	0.373													T	159614519	G	T	159614519	4	4	227	1	0	0	0	0	0	1	0	0	13904	1291	45	5	1450	5	SCHIP1	3	159614519	Nonsense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	8518634	159614519	38407911	55	114833											
ZBBX	79740	broad.mit.edu	37	chr3	167083738	167083738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaccaatttgcccacttttCcagatttccagtaatactcg	5	12	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:167083738C>T	uc003fep.2	-	6	532	c.209G>A	c.(208-210)GGA>GAA	p.G70E	ZBBX_uc011bpc.1_Missense_Mutation_p.G70E|ZBBX_uc003feq.2_Missense_Mutation_p.G41E	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	70						intracellular	zinc ion binding			ovary(2)	2						GCCCACTTTTCCAGATTTCCA	0.289													T	167083738	C	T	167083738	3	4	227	1	0	0	0	0	1	0	0	0	17513	855	30	4	2257	4	ZBBX	3	167083738	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	7469219	167083738	30938692	56	114834											
LRRC31	79782	broad.mit.edu	37	chr3	169557820	169557820	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttctttttttatcttggtCaaagcattctagttcttcct	5	9	5	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:169557820C>T	uc003fgc.1	-	9	1686	c.1609G>A	c.(1609-1611)GAC>AAC	p.D537N	LRRC31_uc010hwp.1_Missense_Mutation_p.D481N	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	537										ovary(2)|skin(1)	3	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)			TTATCTTGGTCAAAGCATTCT	0.403													T	169557820	C	T	169557820	3	4	227	1	0	0	0	0	1	0	0	0	8986	826	29	4	53	4	LRRC31	3	169557820	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	2474082	169557820	28464610	57	114835											
IL1RAP	3556	broad.mit.edu	37	chr3	190338192	190338192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccagaaaatggacgtacGtttcatctcaccaggactct	7	11	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr3:190338192G>A	uc003fsm.1	+	6	872	c.666G>A	c.(664-666)ACG>ACA	p.T222T	IL1RAP_uc003fsk.2_Silent_p.T222T|IL1RAP_uc003fsl.2_Silent_p.T222T|IL1RAP_uc010hzf.2_Silent_p.T81T|IL1RAP_uc010hzg.1_Silent_p.T222T|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.T222T|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.T222T	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	222	Extracellular (Potential).|Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	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)		ATGGACGTACGTTTCATCTCA	0.363													A	190338192	G	A	190338192	2	1	227	1	0	0	0	0	0	0	0	1	7660	1132	40	1		1	IL1RAP	3	190338192	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	20780372	190338192	7684238	58	114836											
ZBTB49	166793	broad.mit.edu	37	chr4	4304670	4304670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgagaattttaattgCattagtgagacggagaggcc	13	4	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr4:4304670C>T	uc003ghu.2	+	3	1282	c.1107C>T	c.(1105-1107)TGC>TGT	p.C369C	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Silent_p.C69C	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						ATTTTAATTGCATTAGTGAGA	0.468													T	4304670	C	T	4304670	2	4	227	1	0	0	0	0	0	0	0	1	17547	718	25	2		2	ZBTB49	4	4304670	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		4304670	186849606	59	114837											
SULT1E1	6783	broad.mit.edu	37	chr4	70723267	70723267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctggtcttgcctggaaCgcttccacattatcccaata	6	13	3	0	rs138937330		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr4:70723267C>T	uc003heo.2	-	2	209	c.96G>A	c.(94-96)GCG>GCA	p.A32A	SULT1E1_uc010ihv.1_Silent_p.A32A	NM_005420	NP_005411	P49888	ST1E1_HUMAN	estrogen sulfotransferase	32					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			ovary(1)	1						TTGCCTGGAACGCTTCCACAT	0.348													T	70723267	C	T	70723267	2	4	227	1	0	0	0	0	0	0	0	1	15377	523	19	1		1	SULT1E1	4	70723267	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	66418597	70723267	120431009	60	114838											
PCDH18	54510	broad.mit.edu	37	chr4	138452262	138452262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaatttggacccaaatcTtgagcctgaacatcaatctc	6	10	3	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr4:138452262T>C	uc003ihe.3	-	1	1368	c.981A>G	c.(979-981)CAA>CAG	p.Q327Q	PCDH18_uc003ihf.3_Silent_p.Q320Q|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.Q107Q|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	327	Cadherin 3.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					GACCCAAATCTTGAGCCTGAA	0.353													C	138452262	T	C	138452262	2	2	227	1	0	0	0	0	0	0	0	1	11513	1606	56	3		3	PCDH18	4	138452262	Silent	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	67728995	138452262	52702014	61	114839											
WDR17	116966	broad.mit.edu	37	chr4	177082116	177082116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccgtgcctaaaggagctTcatattctgatgatatctac	7	9	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr4:177082116T>A	uc003iuj.2	+	21	2941	c.2785T>A	c.(2785-2787)TCA>ACA	p.S929T	WDR17_uc003iuk.2_Missense_Mutation_p.S905T|WDR17_uc003ium.3_Missense_Mutation_p.S905T|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.S148T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	929										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		TAAAGGAGCTTCATATTCTGA	0.343													A	177082116	T	A	177082116	3	1	227	1	0	0	0	0	1	0	0	0	17274	1783	62	5	2863	5	WDR17	4	177082116	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	38629854	177082116	14072160	62	114840											
SEMA5A	9037	broad.mit.edu	37	chr5	9044528	9044528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgtccagtttgttgatgTggttggttatgctggtatta	12	4	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:9044528T>G	uc003jek.2	-	22	3774	c.3062A>C	c.(3061-3063)CAC>CCC	p.H1021P		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	1021	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TTTGTTGATGTGGTTGGTTAT	0.488													G	9044528	T	G	9044528	3	3	227	1	0	0	0	0	1	0	0	0	14037	1696	59	5	170	5	SEMA5A	5	9044528	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08		9044528	171870732	63	114841											
CDH10	1008	broad.mit.edu	37	chr5	24487971	24487971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggggtgcggtggggtcaAgatcatgctcttttagcctt	16	7	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:24487971A>G	uc003jgr.1	-	12	2500	c.2168T>C	c.(2167-2169)CTT>CCT	p.L723P	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	723	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		GGTGGGGTCAAGATCATGCTC	0.443										HNSCC(23;0.051)			G	24487971	A	G	24487971	3	3	227	1	0	0	0	0	1	0	0	0	3096	72	3	3	202	3	CDH10	5	24487971	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	15443443	24487971	156427289	64	114842											
ADAMTS12	81792	broad.mit.edu	37	chr5	33614400	33614400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactgccagaagtacatctGctgctcaacatcattgtcaa	7	11	4	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:33614400G>T	uc003jia.1	-	16	2633	c.2470C>A	c.(2470-2472)CAG>AAG	p.Q824K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q739K	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	824	TSP type-1 2.|Spacer 1.			Missing (in Ref. 1; CAC20419).	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AAGTACATCTGCTGCTCAACA	0.512										HNSCC(64;0.19)			T	33614400	G	T	33614400	3	4	227	1	0	0	0	0	1	0	0	0	257	1328	46	5	2350	5	ADAMTS12	5	33614400	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	9126429	33614400	147300860	65	114843											
RXFP3	51289	broad.mit.edu	37	chr5	33936965	33936965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccaacacgagtggtaaCgcgtcgctgcagcttccgga	14	13	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:33936965C>T	uc003jic.1	+	1	477	c.120C>T	c.(118-120)AAC>AAT	p.N40N		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	40	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CGAGTGGTAACGCGTCGCTGC	0.667													T	33936965	C	T	33936965	2	4	227	1	0	0	0	0	0	0	0	1	13761	535	19	1		1	RXFP3	5	33936965	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	322565	33936965	146978295	66	114844											
ITGA1	3672	broad.mit.edu	37	chr5	52229783	52229783	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagtccctgaagttattaAttctactgaggacattggaa	9	7	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:52229783A>G	uc003jou.2	+	23	2973	c.2921A>G	c.(2920-2922)AAT>AGT	p.N974S	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.N505S	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	974	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAAGTTATTAATTCTACTGAG	0.269													G	52229783	A	G	52229783	3	3	227	1	0	0	0	0	1	0	0	0	7872	101	4	3	3011	3	ITGA1	5	52229783	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	18292818	52229783	128685477	67	114845											
VCAN	1462	broad.mit.edu	37	chr5	82837805	82837805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtggtgccttggctaAgtccacagacttctgagagg	14	9	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:82837805A>C	uc003kii.3	+	8	9339	c.8983A>C	c.(8983-8985)AGT>CGT	p.S2995R	VCAN_uc003kij.3_Missense_Mutation_p.S2008R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1659R	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2995	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GCCTTGGCTAAGTCCACAGAC	0.502													C	82837805	A	C	82837805	3	2	227	1	0	0	0	0	1	0	0	0	17135	72	3	5	9009	5	VCAN	5	82837805	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	30608022	82837805	98077455	68	114846											
FAM81B	153643	broad.mit.edu	37	chr5	94749783	94749783	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggacatctctgcttgCctgcaggggacccatggctt	13	11	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:94749783C>G	uc003kla.1	+	4	472	c.426C>G	c.(424-426)TGC>TGG	p.C142W	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	142										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCTCTGCTTGCCTGCAGGGGA	0.527													G	94749783	C	G	94749783	3	3	227	1	0	0	0	0	1	0	0	0	5629	747	26	5	440	5	FAM81B	5	94749783	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	11911978	94749783	86165477	69	114847											
ADAMTS19	171019	broad.mit.edu	37	chr5	129039996	129039996	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtaccaacccaagaaagaAgtgtgtcctctctaccagac	7	12	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:129039996A>C	uc003kvb.1	+	21	3206	c.3206A>C	c.(3205-3207)AAG>ACG	p.K1069T	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1069	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		CCAAGAAAGAAGTGTGTCCTC	0.458													C	129039996	A	C	129039996	3	2	227	1	0	0	0	0	1	0	0	0	264	72	3	5	3288	5	ADAMTS19	5	129039996	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	34290213	129039996	51875264	70	114848											
RAPGEF6	51735	broad.mit.edu	37	chr5	130825266	130825266	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttggtcttcacagtaagtgCaagatgagtattattcctca	9	7	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:130825266C>G	uc003kvn.1	-	15	2019	c.1813G>C	c.(1813-1815)GCA>CCA	p.A605P	RAPGEF6_uc003kvp.1_Missense_Mutation_p.A655P|RAPGEF6_uc003kvo.1_Missense_Mutation_p.A605P|RAPGEF6_uc010jdi.1_Missense_Mutation_p.A605P|RAPGEF6_uc010jdj.1_Missense_Mutation_p.A605P|RAPGEF6_uc003kvq.2_Missense_Mutation_p.A322P|RAPGEF6_uc003kvr.2_Missense_Mutation_p.A605P|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.A605P	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	605	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACAGTAAGTGCAAGATGAGTA	0.289													G	130825266	C	G	130825266	3	3	227	1	0	0	0	0	1	0	0	0	13048	710	25	5	3534	5	RAPGEF6	5	130825266	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1785270	130825266	50089994	71	114849											
SPOCK1	6695	broad.mit.edu	37	chr5	136324155	136324155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accactcattgttagaaagcTtgccatccttgaaggagtca	8	10	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:136324155T>G	uc003lbo.2	-	7	1075	c.884A>C	c.(883-885)AAG>ACG	p.K295T	SPOCK1_uc003lbp.2_Missense_Mutation_p.K295T	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	295					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTAGAAAGCTTGCCATCCTT	0.532													G	136324155	T	G	136324155	3	3	227	1	0	0	0	0	1	0	0	0	15078	1609	56	5	451	5	SPOCK1	5	136324155	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	5498889	136324155	44591105	72	114850											
HNRNPA0	10949	broad.mit.edu	37	chr5	137088877	137088877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccacccccaccgccataGccgcctctgtaaggtccact	7	19	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:137088877G>A	uc003lbt.2	-	1	1163	c.879C>T	c.(877-879)GGC>GGT	p.G293G	MYOT_uc011cye.1_Intron|HNRNPA0_uc010jeo.2_RNA	NM_006805	NP_006796	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	293	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCGCCATAGCCGCCTCTGT	0.468													A	137088877	G	A	137088877	2	1	227	1	0	0	0	0	0	0	0	1	7256	958	34	2		2	HNRNPA0	5	137088877	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	764722	137088877	43826383	73	114851											
CDC25C	995	broad.mit.edu	37	chr5	137661584	137661584	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accattcggagtgctacaaaGaagctgtgcctaaaaaagag	10	8	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:137661584G>C	uc003lcp.1	-	6	650	c.379C>G	c.(379-381)CTT>GTT	p.L127V	CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.L127V|CDC25C_uc011cyp.1_Missense_Mutation_p.L144V|CDC25C_uc003lcs.1_Missense_Mutation_p.L205V|CDC25C_uc010jet.1_Intron|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Missense_Mutation_p.L84V	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	127					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			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GTGCTACAAAGAAGCTGTGCC	0.443													C	137661584	G	C	137661584	3	2	227	1	0	0	0	0	1	0	0	0	3064	942	33	5	1078	5	CDC25C	5	137661584	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	572707	137661584	43253676	74	114852											
PCDHA8	56140	broad.mit.edu	37	chr5	140222910	140222910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccacggttctggtgtcGctggtggagagcggccaggc	18	11	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:140222910G>A	uc003lhs.2	+	1	2004	c.2004G>A	c.(2002-2004)TCG>TCA	p.S668S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.S668S	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	668	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGGTGTCGCTGGTGGAGA	0.637													A	140222910	G	A	140222910	2	1	227	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA8	5	140222910	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	2561326	140222910	40692350	75	114853											
PCDHB16	57717	broad.mit.edu	37	chr5	140562740	140562740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggataaagagctggatcgGgaggaggagcctcaactaag	15	6	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:140562740G>A	uc003liv.2	+	1	1761	c.606G>A	c.(604-606)CGG>CGA	p.R202R	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	202	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGGATCGGGAGGAGGAGC	0.498													A	140562740	G	A	140562740	2	1	227	1	0	0	0	0	0	0	0	1	11541	1219	43	4		4	PCDHB16	5	140562740	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	339830	140562740	40352520	76	114854											
ADAM19	8728	broad.mit.edu	37	chr5	156929870	156929870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacccgttcccacacctccGgcctccatacaacatcctgg	5	19	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr5:156929870G>A	uc003lwz.2	-	12	1313	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	ADAM19_uc003lww.1_Missense_Mutation_p.R150W|ADAM19_uc003lwy.2_Missense_Mutation_p.R16W|ADAM19_uc011ddr.1_Missense_Mutation_p.R348W	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	417	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	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)			CCACACCTCCGGCCTCCATAC	0.537													A	156929870	G	A	156929870	3	1	227	1	0	0	0	0	1	0	0	0	240	1115	39	1	1555	1	ADAM19	5	156929870	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	16367130	156929870	23985390	77	114855											
SOX4	6659	broad.mit.edu	37	chr6	21595667	21595667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtctacctgttcggcgGcctgggcacgtcgtcgtcgc	15	15	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:21595667G>A	uc003ndi.2	+	1	1696	c.902G>A	c.(901-903)GGC>GAC	p.G301D		NM_003107	NP_003098	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	301					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				0	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CTGTTCGGCGGCCTGGGCACG	0.766													A	21595667	G	A	21595667	3	1	227	1	0	0	0	0	1	0	0	0	14953	1203	42	2	904	2	SOX4	6	21595667	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		21595667	149519400	78	114856											
ZNF165	7718	broad.mit.edu	37	chr6	28057156	28057156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcacactggagaaaaacccTatgaatgcagtgagtgtgga	11	7	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:28057156T>A	uc003nkg.2	+	5	2450	c.1366T>A	c.(1366-1368)TAT>AAT	p.Y456N	ZNF165_uc003nkh.2_Missense_Mutation_p.Y456N|ZNF165_uc003nki.3_Missense_Mutation_p.Y456N|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	456	C2H2-type 6.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGAAAAACCCTATGAATGCAG	0.428													A	28057156	T	A	28057156	3	1	227	1	0	0	0	0	1	0	0	0	17737	1522	53	5	1376	5	ZNF165	6	28057156	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	6461489	28057156	143057911	79	114857											
MDC1	9656	broad.mit.edu	37	chr6	30680604	30680604	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatcactaccagcctggCtctcctgcagatgggccagg	11	14	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:30680604C>G	uc003nrg.3	-	5	1555	c.1115G>C	c.(1114-1116)AGC>ACC	p.S372T	MDC1_uc003nrf.3_Missense_Mutation_p.S26T|MDC1_uc011dmp.1_Missense_Mutation_p.S244T|MDC1_uc003nrh.1_Missense_Mutation_p.S244T|MDC1_uc003nri.2_Missense_Mutation_p.S372T	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	372	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)|ovary(1)|kidney(1)	4						ACCAGCCTGGCTCTCCTGCAG	0.537								Other_conserved_DNA_damage_response_genes					G	30680604	C	G	30680604	3	3	227	1	0	0	0	0	1	0	0	0	9403	797	28	5	5198	5	MDC1	6	30680604	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	2623448	30680604	140434463	80	114858											
DOM3Z	1797	broad.mit.edu	37	chr6	31938737	31938737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccatgtacataagctcccGgaggagcggtggccgagcaa	13	12	0	0	rs147759642		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:31938737G>A	uc003nyo.1	-	2	1078	c.544C>T	c.(544-546)CGG>TGG	p.R182W	DOM3Z_uc003nyp.1_Missense_Mutation_p.R182W|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.R182W|DOM3Z_uc003nys.1_Missense_Mutation_p.R182W|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	DOM-3 homolog Z	182							identical protein binding|metal ion binding|nucleotide binding				0						ATAAGCTCCCGGAGGAGCGGT	0.592													A	31938737	G	A	31938737	3	1	227	1	0	0	0	0	1	0	0	0	4705	1115	39	1	666	1	DOM3Z	6	31938737	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1258133	31938737	139176330	81	114859											
PTK7	5754	broad.mit.edu	37	chr6	43096749	43096749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtcttcatcaagcagccGtcctcccaggatgcactgca	8	14	3	0	rs151242533		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:43096749G>A	uc003oub.1	+	2	312	c.114G>A	c.(112-114)CCG>CCA	p.P38P	PTK7_uc003ouc.1_Silent_p.P38P|PTK7_uc003oud.1_Silent_p.P38P|PTK7_uc003oue.1_Silent_p.P38P|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.P46P|PTK7_uc003oua.2_Silent_p.P38P	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	38	Ig-like C2-type 1.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCAAGCAGCCGTCCTCCCAGG	0.637													A	43096749	G	A	43096749	2	1	227	1	0	0	0	0	0	0	0	1	12765	1132	40	1		1	PTK7	6	43096749	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	11158012	43096749	128018318	82	114860											
KHDRBS2	202559	broad.mit.edu	37	chr6	62390958	62390958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggttgtggcccattcTtctggtgctgtgaaaaagag	15	7	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:62390958T>A	uc003peg.2	-	9	1207	c.960A>T	c.(958-960)GAA>GAT	p.E320D		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGGCCCATTCTTCTGGTGCTG	0.448													A	62390958	T	A	62390958	3	1	227	1	0	0	0	0	1	0	0	0	8147	1606	56	5	93	5	KHDRBS2	6	62390958	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	19294209	62390958	108724109	83	114861											
MCHR2	84539	broad.mit.edu	37	chr6	100382309	100382309	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttgatacatctcccaAgtatagcataaaattaaaat	4	7	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:100382309A>C	uc003pqh.1	-	5	987	c.672T>G	c.(670-672)ACT>ACG	p.T224T	MCHR2_uc003pqi.1_Silent_p.T224T	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	224	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		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)		ACATCTCCCAAGTATAGCATA	0.299													C	100382309	A	C	100382309	2	2	227	1	0	0	0	0	0	0	0	1	9383	59	3	5		5	MCHR2	6	100382309	Silent	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	37991351	100382309	70732758	84	114862											
QRSL1	55278	broad.mit.edu	37	chr6	107088263	107088263	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggccaaattacaccaacaGagctctgtcaaaaatgtctc	6	11	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:107088263G>A	uc003prm.2	+	2	180	c.64G>A	c.(64-66)GAG>AAG	p.E22K	QRSL1_uc003prl.2_Missense_Mutation_p.E22K	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	22					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	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)		TACACCAACAGAGCTCTGTCA	0.373													A	107088263	G	A	107088263	3	1	227	1	0	0	0	0	1	0	0	0	12881	943	33	4	70	4	QRSL1	6	107088263	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	6705954	107088263	64026804	85	114863											
LAMA4	3910	broad.mit.edu	37	chr6	112512889	112512889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtagccaggagcgcaacGttcacacttgaatccggtgg	12	10	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:112512889G>A	uc003pvu.2	-	6	976	c.667C>T	c.(667-669)CGT>TGT	p.R223C	LAMA4_uc003pvv.2_Missense_Mutation_p.R223C|LAMA4_uc003pvt.2_Missense_Mutation_p.R223C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	223	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		GGAGCGCAACGTTCACACTTG	0.502													A	112512889	G	A	112512889	3	1	227	1	0	0	0	0	1	0	0	0	8608	1145	40	1	4940	1	LAMA4	6	112512889	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	5424626	112512889	58602178	86	114864											
TAAR5	9038	broad.mit.edu	37	chr6	132909837	132909837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtacaaatcaacagtgCgtgtctgcggtgagaagacc	12	9	2	2	rs145127866	byFrequency	TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:132909837C>T	uc003qdk.2	-	1	1041	c.989G>A	c.(988-990)CGC>CAC	p.R330H		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	330	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATCAACAGTGCGTGTCTGCGG	0.493													T	132909837	C	T	132909837	3	4	227	1	0	0	0	0	1	0	0	0	15488	768	27	1	28	1	TAAR5	6	132909837	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	20396948	132909837	38205230	87	114865											
TBPL1	9519	broad.mit.edu	37	chr6	134305750	134305750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctgctgtgtgctatcGgataaaatctctaagagcta	8	9	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:134305750G>A	uc010kgg.2	+	6	982	c.422G>A	c.(421-423)CGG>CAG	p.R141Q	TBPL1_uc003qel.2_Missense_Mutation_p.R141Q	NM_004865	NP_004856	P62380	TBPL1_HUMAN	TBP-like 1	141					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		GTGTGCTATCGGATAAAATCT	0.313													A	134305750	G	A	134305750	3	1	227	1	0	0	0	0	1	0	0	0	15642	1116	39	1	440	1	TBPL1	6	134305750	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1395913	134305750	36809317	88	114866											
HIVEP2	3097	broad.mit.edu	37	chr6	143093770	143093770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcttcatcccctacGctcttctctttccggcgttt	6	16	4	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:143093770G>A	uc003qjd.2	-	5	2849	c.2106C>T	c.(2104-2106)AGC>AGT	p.S702S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATCCCCTACGCTCTTCTCTT	0.512													A	143093770	G	A	143093770	2	1	227	1	0	0	0	0	0	0	0	1	7187	1078	38	1		1	HIVEP2	6	143093770	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	8788020	143093770	28021297	89	114867											
STX11	8676	broad.mit.edu	37	chr6	144507996	144507996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcacgtccatgcggCgcctcagcagcatcaagcgc	10	17	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:144507996C>T	uc003qks.3	+	2	424	c.232C>T	c.(232-234)CGC>TGC	p.R78C		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	78					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTCCATGCGGCGCCTCAGCAG	0.627									Familial_Hemophagocytic_Lymphohistiocytosis				T	144507996	C	T	144507996	3	4	227	1	0	0	0	0	1	0	0	0	15336	768	27	1	234	1	STX11	6	144507996	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1414226	144507996	26607071	90	114868											
UTRN	7402	broad.mit.edu	37	chr6	144801088	144801088	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgagtacaagtcaccagaAgagcttgagagtgctgtgga	13	6	1	4			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:144801088A>C	uc003qkt.2	+	25	3569	c.3477A>C	c.(3475-3477)GAA>GAC	p.E1159D	UTRN_uc010khq.1_Missense_Mutation_p.E1159D	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1159	Spectrin 8.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGTCACCAGAAGAGCTTGAGA	0.517													C	144801088	A	C	144801088	3	2	227	1	0	0	0	0	1	0	0	0	17100	69	3	5	3575	5	UTRN	6	144801088	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	293092	144801088	26313979	91	114869											
PACRG	135138	broad.mit.edu	37	chr6	163735984	163735984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttatcaacattaagtacGtggtcccaacctacgagtct	6	12	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:163735984G>A	uc003qua.2	+	7	1080	c.856G>A	c.(856-858)GTG>ATG	p.V286M	PACRG_uc003qub.2_Missense_Mutation_p.V247M|PACRG_uc003quc.2_Missense_Mutation_p.V247M|LOC285796_uc011egh.1_Intron	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	286											0		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)		CATTAAGTACGTGGTCCCAAC	0.507													A	163735984	G	A	163735984	3	1	227	1	0	0	0	0	1	0	0	0	11370	1145	40	1	878	1	PACRG	6	163735984	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	18934896	163735984	7379083	92	114870											
DLL1	28514	broad.mit.edu	37	chr6	170592364	170592364	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcccctgaggagcccTggggctggcacttggtgtca	13	14	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:170592364T>G	uc003qxm.2	-	9	2473	c.2003A>C	c.(2002-2004)CAG>CCG	p.Q668P		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	668	Cytoplasmic (Potential).				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			lung(4)|ovary(1)	5		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)		TGAGGAGCCCTGGGGCTGGCA	0.677													G	170592364	T	G	170592364	3	3	227	1	0	0	0	0	1	0	0	0	4566	1580	55	5	180	5	DLL1	6	170592364	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	6856380	170592364	522703	93	114871											
DLL1	28514	broad.mit.edu	37	chr6	170594140	170594140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgttaaagcaagggccGtccgcacaggtcatggcact	11	15	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr6:170594140G>A	uc003qxm.2	-	8	1586	c.1116C>T	c.(1114-1116)GAC>GAT	p.D372D		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	372	Extracellular (Potential).|EGF-like 5.				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			lung(4)|ovary(1)	5		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)		AGCAAGGGCCGTCCGCACAGG	0.582													A	170594140	G	A	170594140	2	1	227	1	0	0	0	0	0	0	0	1	4566	1136	40	1		1	DLL1	6	170594140	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1776	170594140	520927	94	114872											
SDK1	221935	broad.mit.edu	37	chr7	4218127	4218127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccctgcagatttaaagaaGtaccggcgctatgaagtaat	9	8	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:4218127G>T	uc003smx.2	+	35	5146	c.5007G>T	c.(5005-5007)AAG>AAT	p.K1669N	SDK1_uc010kso.2_Missense_Mutation_p.K925N|SDK1_uc003smy.2_Missense_Mutation_p.K156N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1669	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		ATTTAAAGAAGTACCGGCGCT	0.522													T	4218127	G	T	4218127	3	4	227	1	0	0	0	0	1	0	0	0	13968	1020	36	5	5145	5	SDK1	7	4218127	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		4218127	154920536	95	114873											
SDK1	221935	broad.mit.edu	37	chr7	4247869	4247869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcagccttcaacgccgccGgagatggacctaagagtgac	11	12	2	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:4247869G>A	uc003smx.2	+	37	5492	c.5353G>A	c.(5353-5355)GGA>AGA	p.G1785R	SDK1_uc010kso.2_Missense_Mutation_p.G1041R|SDK1_uc003smy.2_Missense_Mutation_p.G272R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1785	Fibronectin type-III 11.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CAACGCCGCCGGAGATGGACC	0.602													A	4247869	G	A	4247869	3	1	227	1	0	0	0	0	1	0	0	0	13968	1117	39	1	5499	1	SDK1	7	4247869	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	29742	4247869	154890794	96	114874											
TXNDC3	51314	broad.mit.edu	37	chr7	37907454	37907454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgaggatcaacctgagGtcgaagcccaggttacacct	11	11	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:37907454G>A	uc003tfn.2	+	11	1144	c.772G>A	c.(772-774)GTC>ATC	p.V258I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	258					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCAACCTGAGGTCGAAGCCCA	0.438									Kartagener_syndrome				A	37907454	G	A	37907454	3	1	227	1	0	0	0	0	1	0	0	0	16795	1261	44	4	806	4	TXNDC3	7	37907454	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	33659585	37907454	121231209	97	114875											
URGCP	55665	broad.mit.edu	37	chr7	43917267	43917267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctcccccacgtctgtggTgcccccatgctttggtctca	10	17	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:43917267T>C	uc003tiw.2	-	6	1852	c.1795A>G	c.(1795-1797)ACC>GCC	p.T599A	URGCP_uc003tiu.2_Missense_Mutation_p.T556A|URGCP_uc003tiv.2_Missense_Mutation_p.T524A|URGCP_uc003tix.2_Missense_Mutation_p.T590A|URGCP_uc003tiy.2_Missense_Mutation_p.T556A|URGCP_uc003tiz.2_Missense_Mutation_p.T556A|URGCP_uc011kbj.1_Missense_Mutation_p.T556A	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	599					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						ACGTCTGTGGTGCCCCCATGC	0.632													C	43917267	T	C	43917267	3	2	227	1	0	0	0	0	1	0	0	0	17023	1696	59	3	1004	3	URGCP	7	43917267	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	6009813	43917267	115221396	98	114876											
VSTM2A	222008	broad.mit.edu	37	chr7	54612434	54612434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccaatggtggttcctgCgggggccggaggacctggat	17	9	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:54612434C>T	uc010kzf.2	+	2	604	c.199C>T	c.(199-201)CGG>TGG	p.R67W	VSTM2A_uc010kze.2_Missense_Mutation_p.R67W|VSTM2A_uc003tqc.3_Missense_Mutation_p.R67W	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	67	Ig-like V-type.					extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)			GTGGTTCCTGCGGGGGCCGGA	0.721													T	54612434	C	T	54612434	3	4	227	1	0	0	0	0	1	0	0	0	17226	759	27	1	205	1	VSTM2A	7	54612434	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	10695167	54612434	104526229	99	114877											
TYW1	55253	broad.mit.edu	37	chr7	66479483	66479483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatttggcaaaacttacCtgaagggtatgagatatgcg	11	6	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:66479483C>A	uc003tvn.2	+	5	654	c.505C>A	c.(505-507)CTG>ATG	p.L169M	TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	169	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAAAACTTACCTGAAGGGTAT	0.428													A	66479483	C	A	66479483	3	1	227	1	0	0	0	0	1	0	0	0	16815	680	24	5	523	5	TYW1	7	66479483	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	11867049	66479483	92659180	100	114878											
PCLO	27445	broad.mit.edu	37	chr7	82545713	82545713	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtataaactggctgaaTtcagtttggggagcagttct	14	5	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:82545713T>G	uc003uhx.2	-	7	11878	c.11589A>C	c.(11587-11589)GAA>GAC	p.E3863D	PCLO_uc003uhv.2_Missense_Mutation_p.E3863D|PCLO_uc010lec.2_Missense_Mutation_p.E828D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3794	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTGGCTGAATTCAGTTTGGG	0.458													G	82545713	T	G	82545713	3	3	227	1	0	0	0	0	1	0	0	0	11583	1490	52	5	3932	5	PCLO	7	82545713	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	16066230	82545713	76592950	101	114879											
SEMA3A	10371	broad.mit.edu	37	chr7	83590815	83590815	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgccgacgttgttttcGgtcccttttccaaacttgtt	7	12	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:83590815G>A	uc003uhz.2	-	17	2503	c.2188C>T	c.(2188-2190)CGA>TGA	p.R730*		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	730	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						CGTTGTTTTCGGTCCCTTTTC	0.468													A	83590815	G	A	83590815	4	1	227	1	0	0	0	0	0	1	0	0	14024	1124	39	1	131	1	SEMA3A	7	83590815	Nonsense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1045102	83590815	75547848	102	114880											
COL1A2	1278	broad.mit.edu	37	chr7	94038121	94038121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccaggcttcccaggtGcccctggccccaaggtaaaa	10	17	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:94038121G>A	uc003ung.1	+	16	1249	c.778G>A	c.(778-780)GCC>ACC	p.A260T	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	260					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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTTCCCAGGTGCCCCTGGCCC	0.433										HNSCC(75;0.22)			A	94038121	G	A	94038121	3	1	227	1	0	0	0	0	1	0	0	0	3678	1319	46	2	840	2	COL1A2	7	94038121	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	10447306	94038121	65100542	103	114881											
RELN	5649	broad.mit.edu	37	chr7	103143594	103143594	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgagggaccagataattCcaactcacaccgaagtcagt	8	12	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:103143594C>T	uc003vca.2	-	52	8518	c.8358G>A	c.(8356-8358)TGG>TGA	p.W2786*	RELN_uc010liz.2_Nonsense_Mutation_p.W2786*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2786	BNR 13.				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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGATAATTCCAACTCACAC	0.413													T	103143594	C	T	103143594	4	4	227	1	0	0	0	0	0	1	0	0	13220	856	30	4	2080	4	RELN	7	103143594	Nonsense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	9105473	103143594	55995069	104	114882											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650904	121650904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcccattcatctctgagAacatatcccaagggtatata	5	11	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:121650904A>G	uc003vjy.2	+	12	2199	c.1804A>G	c.(1804-1806)AAC>GAC	p.N602D	PTPRZ1_uc003vjz.2_Missense_Mutation_p.N602D|PTPRZ1_uc011knt.1_Missense_Mutation_p.N52D	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	602	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CATCTCTGAGAACATATCCCA	0.423													G	121650904	A	G	121650904	3	3	227	1	0	0	0	0	1	0	0	0	12814	246	9	3	1850	3	PTPRZ1	7	121650904	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	18507310	121650904	37487759	105	114883											
GRM8	2918	broad.mit.edu	37	chr7	126086287	126086287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagctgtcaccacagccTtgaagctcctcttgcgtttt	9	13	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:126086287T>G	uc003vlr.2	-	9	2881	c.2570A>C	c.(2569-2571)AAG>ACG	p.K857T	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.K857T|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	857	Cytoplasmic (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACCACAGCCTTGAAGCTCCT	0.418										HNSCC(24;0.065)			G	126086287	T	G	126086287	3	3	227	1	0	0	0	0	1	0	0	0	6803	1609	56	5	214	5	GRM8	7	126086287	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	4435383	126086287	33052376	106	114884											
GRM8	2918	broad.mit.edu	37	chr7	126086390	126086390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatactgaagcacttaaacTcatggagacagtaagtgttg	10	6	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:126086390T>G	uc003vlr.2	-	9	2778	c.2467A>C	c.(2467-2469)AGT>CGT	p.S823R	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S823R|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	823	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCACTTAAACTCATGGAGACA	0.368										HNSCC(24;0.065)			G	126086390	T	G	126086390	3	3	227	1	0	0	0	0	1	0	0	0	6803	1551	54	5	317	5	GRM8	7	126086390	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	103	126086390	33052273	107	114885											
GCC1	79571	broad.mit.edu	37	chr7	127223170	127223170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctggaggctgctagaGccagtgtcttgttctccagg	13	11	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:127223170G>A	uc003vma.2	-	2	1644	c.1226C>T	c.(1225-1227)GCT>GTT	p.A409V		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	409	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						GGCTGCTAGAGCCAGTGTCTT	0.542													A	127223170	G	A	127223170	3	1	227	1	0	0	0	0	1	0	0	0	6285	971	34	2	1105	2	GCC1	7	127223170	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1136780	127223170	31915493	108	114886											
DGKI	9162	broad.mit.edu	37	chr7	137096916	137096916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtaggaagatatcttacCttcataagatcaccagctat	7	8	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:137096916C>T	uc003vtt.2	-	30	2824	c.2823G>A	c.(2821-2823)AAG>AAA	p.K941K	DGKI_uc003vtu.2_Silent_p.K610K	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	941					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			ovary(1)|kidney(1)|skin(1)	3						GATATCTTACCTTCATAAGAT	0.343													T	137096916	C	T	137096916	2	4	227	1	0	0	0	0	0	0	0	1	4471	695	24	4		4	DGKI	7	137096916	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	9873746	137096916	22041747	109	114887											
OR9A4	130075	broad.mit.edu	37	chr7	141619330	141619330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctacaattgtctccaacGcctacatcatctccaccatt	2	17	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:141619330G>A	uc003vwu.1	+	1	655	c.655G>A	c.(655-657)GCC>ACC	p.A219T		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.0171)					TGTCTCCAACGCCTACATCAT	0.448													A	141619330	G	A	141619330	3	1	227	1	0	0	0	0	1	0	0	0	11249	1087	38	1	657	1	OR9A4	7	141619330	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	4522414	141619330	17519333	110	114888											
LRRC61	65999	broad.mit.edu	37	chr7	150034324	150034324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggctaccgtgcctggAgtacctgcggctccgagacc	15	14	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:150034324A>C	uc003wgv.2	+	3	1048	c.374A>C	c.(373-375)GAG>GCG	p.E125A	LRRC61_uc003wgx.2_Missense_Mutation_p.E125A|LRRC61_uc003wgw.2_Missense_Mutation_p.E125A|LRRC61_uc003wgz.3_Missense_Mutation_p.E125A	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	125											0			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGTGCCTGGAGTACCTGCGG	0.657													C	150034324	A	C	150034324	3	2	227	1	0	0	0	0	1	0	0	0	9017	304	11	5	376	5	LRRC61	7	150034324	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	8414994	150034324	9104339	111	114889											
MLL3	58508	broad.mit.edu	37	chr7	151927304	151927304	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaattgtcaagttcaaaCctgattcaaagtgaacttgt	7	6	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:151927304C>T	uc003wla.2	-	17	3090	c.2871_splice	c.e17+1	p.Q957_splice	MLL3_uc003wkz.2_Splice_Site_p.Q18_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAAGTTCAAACCTGATTCAAA	0.343			N		medulloblastoma								T	151927304	C	T	151927304	5	4	227	1	0	0	0	0	0	0	1	0	9622	521	18	4	12035	4	MLL3	7	151927304	Splice_Site	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1892980	151927304	7211359	112	114890											
NOM1	64434	broad.mit.edu	37	chr7	156762348	156762348	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacgtgctgagagagaaagCtgaccttgcaacgaagtgtc	12	9	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr7:156762348C>G	uc003wmy.2	+	11	2549	c.2534C>G	c.(2533-2535)GCT>GGT	p.A845G		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	845					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAGAGAAAGCTGACCTTGCA	0.512													G	156762348	C	G	156762348	3	3	227	1	0	0	0	0	1	0	0	0	10530	797	28	5	2576	5	NOM1	7	156762348	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	4835044	156762348	2376315	113	114891											
KCTD9	54793	broad.mit.edu	37	chr8	25301820	25301820	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcacttaccaataaatggctCtccttcacaaacaaacaaaa	2	12	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr8:25301820C>G	uc003xeo.2	-	3	360	c.202G>C	c.(202-204)GAG>CAG	p.E68Q	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	68	KHA.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		ATAAATGGCTCTCCTTCACAA	0.284													G	25301820	C	G	25301820	3	3	227	1	0	0	0	0	1	0	0	0	8116	922	32	5	1007	5	KCTD9	8	25301820	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		25301820	121062202	114	114892											
C8orf80	389643	broad.mit.edu	37	chr8	27905066	27905066	+	Frame_Shift_Del	DEL	G	G	-													agcctgctgccagtactcctGggcgctgactgtatacacca							TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr8:27905066delG	uc003xgm.3	-	11	1413	c.1270delC	c.(1270-1272)CAGfs	p.Q424fs		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	424						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CAGTACTCCTGGGCGCTGACT	0.453													-	27905066	G	-	27905066	7	5	227	1	0	1	0	1	0	0	0	0	2439	1357	47	0	1156	0	C8orf80	8	27905066	Frame_Shift_Del	DEL	G	TCGA-D7-A4YU-01A-21D-A25D-08	2603246	27905066	118458956	115	114893											
CYP7B1	9420	broad.mit.edu	37	chr8	65536986	65536986	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagaactgtgaaagtgtcaCcatgttgcttttgaagtgtt	11	5	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr8:65536986C>G	uc003xvj.2	-	2	437	c.233G>C	c.(232-234)GGT>GCT	p.G78A		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	78					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			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GAAAGTGTCACCATGTTGCTT	0.368													G	65536986	C	G	65536986	3	3	227	1	0	0	0	0	1	0	0	0	4197	507	18	5	1307	5	CYP7B1	8	65536986	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	37631920	65536986	80827036	116	114894											
FAM135B	51059	broad.mit.edu	37	chr8	139263121	139263121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccaccagggcagcatGgacggtcaccgagatcacag	13	13	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr8:139263121G>A	uc003yuy.2	-	6	676	c.505C>T	c.(505-507)CAT>TAT	p.H169Y	FAM135B_uc003yux.2_Missense_Mutation_p.H70Y|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	169										ovary(7)|skin(2)	9	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)			AGGGCAGCATGGACGGTCACC	0.582										HNSCC(54;0.14)			A	139263121	G	A	139263121	3	1	227	1	0	0	0	0	1	0	0	0	5449	1348	47	4	3775	4	FAM135B	8	139263121	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	73726135	139263121	7100901	117	114895											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18706804	18706804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgtggggacccaggtgcGaatagtcaggtgccaggtgc	18	8	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr9:18706804G>A	uc003zne.3	+	14	1761	c.1634G>A	c.(1633-1635)CGA>CAA	p.R545Q		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	545	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCCAGGTGCGAATAGTCAGG	0.602													A	18706804	G	A	18706804	3	1	227	1	0	0	0	0	1	0	0	0	274	1058	37	1	1692	1	ADAMTSL1	9	18706804	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		18706804	122506627	118	114896											
TRPM3	80036	broad.mit.edu	37	chr9	73442926	73442926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggacatggtctggtatggCcggacaacctgcagggtatc	14	9	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr9:73442926C>T	uc004aid.2	-	6	1054	c.810G>A	c.(808-810)CGG>CGA	p.R270R	TRPM3_uc004ahu.2_Silent_p.R100R|TRPM3_uc004ahv.2_Silent_p.R100R|TRPM3_uc004ahw.2_Silent_p.R117R|TRPM3_uc004ahx.2_Silent_p.R117R|TRPM3_uc004ahy.2_Silent_p.R117R|TRPM3_uc004ahz.2_Silent_p.R117R|TRPM3_uc004aia.2_Silent_p.R117R|TRPM3_uc004aib.2_Silent_p.R117R|TRPM3_uc004aic.2_Silent_p.R270R|TRPM3_uc010mor.2_Silent_p.R270R|TRPM3_uc004aie.2_Silent_p.R117R|TRPM3_uc004aif.2_Silent_p.R117R|TRPM3_uc004aig.2_Silent_p.R117R|TRPM3_uc004aii.2_Silent_p.R272R	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	270	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TCTGGTATGGCCGGACAACCT	0.458													T	73442926	C	T	73442926	2	4	227	1	0	0	0	0	0	0	0	1	16584	726	26	2		2	TRPM3	9	73442926	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	54736122	73442926	67770505	119	114897											
TRPM6	140803	broad.mit.edu	37	chr9	77377031	77377031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggatgtgtttggctgaAgccatggtcccacctctgag	12	9	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr9:77377031A>C	uc004ajl.1	-	26	4794	c.4556T>G	c.(4555-4557)CTT>CGT	p.L1519R	TRPM6_uc004ajk.1_Missense_Mutation_p.L1514R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.L475R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1519	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GTTTGGCTGAAGCCATGGTCC	0.498													C	77377031	A	C	77377031	3	2	227	1	0	0	0	0	1	0	0	0	16587	72	3	5	1568	5	TRPM6	9	77377031	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	3934105	77377031	63836400	120	114898											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899268	112899268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccgcaggaaaaaaccatcGaggagcagctggacgaggaa	13	11	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr9:112899268G>A	uc004bei.2	+	9	2332	c.2140G>A	c.(2140-2142)GAG>AAG	p.E714K	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.E482K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.E482K|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.E292K|AKAP2_uc011lwi.1_Missense_Mutation_p.E340K|AKAP2_uc004bem.2_Missense_Mutation_p.E340K|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.E300K|AKAP2_uc011lwj.1_Missense_Mutation_p.E251K|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.E251K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	251	Potential.						enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						AAAAACCATCGAGGAGCAGCT	0.453													A	112899268	G	A	112899268	3	1	227	1	0	0	0	0	1	0	0	0	11410	1059	37	1	1474	1	PALM2-AKAP2	9	112899268	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	35522237	112899268	28314163	121	114899											
TNC	3371	broad.mit.edu	37	chr9	117791715	117791715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagaagttctcgcgtccGtttttgcgtctcaggaacac	11	10	2	1	rs150281525		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr9:117791715G>A	uc004bjj.3	-	25	6455	c.6093C>T	c.(6091-6093)AAC>AAT	p.N2031N	TNC_uc010mvf.2_Silent_p.N1758N	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	2031	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TCTCGCGTCCGTTTTTGCGTC	0.383													A	117791715	G	A	117791715	2	1	227	1	0	0	0	0	0	0	0	1	16267	1136	40	1		1	TNC	9	117791715	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	4892447	117791715	23421716	122	114900											
PAPPA	5069	broad.mit.edu	37	chr9	118973933	118973933	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaggtggcattgtcttgaAcccatctttctatggcatgc	9	10	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr9:118973933A>C	uc004bjn.2	+	4	2021	c.1640A>C	c.(1639-1641)AAC>ACC	p.N547T	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	547	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						ATTGTCTTGAACCCATCTTTC	0.502													C	118973933	A	C	118973933	3	2	227	1	0	0	0	0	1	0	0	0	11432	43	2	5	1654	5	PAPPA	9	118973933	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	1182218	118973933	22239498	123	114901											
SFMBT2	57713	broad.mit.edu	37	chr10	7409728	7409728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgtaaccgcagtagcGcagaagcagcagctgcccgc	11	17	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:7409728G>A	uc009xio.1	-	4	410	c.319C>T	c.(319-321)CGC>TGC	p.R107C	SFMBT2_uc001ijn.1_Missense_Mutation_p.R107C|SFMBT2_uc010qay.1_Missense_Mutation_p.R107C|SFMBT2_uc001ijo.1_Missense_Mutation_p.R107C	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	107	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CCGCAGTAGCGCAGAAGCAGC	0.577													A	7409728	G	A	7409728	3	1	227	1	0	0	0	0	1	0	0	0	14158	1087	38	1	2437	1	SFMBT2	10	7409728	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		7409728	128125019	124	114902											
CUBN	8029	broad.mit.edu	37	chr10	17061928	17061928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggagcttgtagtactccctgGagggggcaggtctactccac	14	11	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:17061928G>T	uc001ioo.2	-	28	4124	c.4072C>A	c.(4072-4074)CCA>ACA	p.P1358T		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1358	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACTCCCTGGAGGGGGCAGG	0.488													T	17061928	G	T	17061928	3	4	227	1	0	0	0	0	1	0	0	0	4051	1174	41	5	6959	5	CUBN	10	17061928	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	9652200	17061928	118472819	125	114903											
NEBL	10529	broad.mit.edu	37	chr10	21112165	21112165	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttctggttttctttaActctctttagttctggagga	8	7	5	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:21112165A>C	uc001iqi.2	-	19	2331	c.1934T>G	c.(1933-1935)GTT>GGT	p.V645G	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	645	Nebulin 18.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GTTTTCTTTAACTCTCTTTAG	0.284													C	21112165	A	C	21112165	3	2	227	1	0	0	0	0	1	0	0	0	10303	43	2	5	1150	5	NEBL	10	21112165	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	4050237	21112165	114422582	126	114904											
FAM13C	220965	broad.mit.edu	37	chr10	61012739	61012739	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgtggacggtcttcaTcagagtcctcttcctcctgc	8	15	4	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:61012739T>G	uc001jkn.2	-	13	1486	c.1352A>C	c.(1351-1353)GAT>GCT	p.D451A	FAM13C_uc001jko.2_Missense_Mutation_p.D353A|FAM13C_uc010qid.1_Missense_Mutation_p.D367A|FAM13C_uc010qie.1_Missense_Mutation_p.D368A|FAM13C_uc010qif.1_Missense_Mutation_p.D473A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	451										ovary(2)	2						ACGGTCTTCATCAGAGTCCTC	0.478													G	61012739	T	G	61012739	3	3	227	1	0	0	0	0	1	0	0	0	5454	1435	50	5	417	5	FAM13C	10	61012739	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	39900574	61012739	74522008	127	114905											
ZNF365	22891	broad.mit.edu	37	chr10	64425905	64425905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaaagtgtctctacaAgtcaaagcaggaatatcagc	10	8	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:64425905A>C	uc001jmd.1	+	6	833	c.499A>C	c.(499-501)AGT>CGT	p.S167R	ZNF365_uc001jmc.2_Missense_Mutation_p.S413R|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	167										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGTCTCTACAAGTCAAAGCAG	0.373													C	64425905	A	C	64425905	3	2	227	1	0	0	0	0	1	0	0	0	17866	72	3	5	1995	5	ZNF365	10	64425905	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	3413166	64425905	71108842	128	114906											
KCNMA1	3778	broad.mit.edu	37	chr10	78709036	78709036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggcatcaccaggttcCggaggccgatcagggctgag	17	11	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:78709036C>T	uc001jxn.2	-	22	2750	c.2573G>A	c.(2572-2574)CGG>CAG	p.R858Q	KCNMA1_uc001jxj.2_Missense_Mutation_p.R804Q|KCNMA1_uc001jxk.1_Missense_Mutation_p.R476Q|KCNMA1_uc009xrt.1_Missense_Mutation_p.R649Q|KCNMA1_uc001jxl.1_Missense_Mutation_p.R483Q|KCNMA1_uc001jxo.2_Missense_Mutation_p.R841Q|KCNMA1_uc001jxm.2_Missense_Mutation_p.R800Q|KCNMA1_uc001jxq.2_Missense_Mutation_p.R803Q	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	858	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	CACCAGGTTCCGGAGGCCGAT	0.557													T	78709036	C	T	78709036	3	4	227	1	0	0	0	0	1	0	0	0	8073	652	23	1	1194	1	KCNMA1	10	78709036	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	14283131	78709036	56825711	129	114907											
KIF20B	9585	broad.mit.edu	37	chr10	91484893	91484893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagcagcgaaagacatttGtgccacaaaagttgaaactg	10	7	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:91484893G>T	uc001kgs.1	+	15	2051	c.1979G>T	c.(1978-1980)TGT>TTT	p.C660F	KIF20B_uc001kgr.1_Missense_Mutation_p.C660F|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	660					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			ovary(1)|pancreas(1)|skin(1)	3						AAAGACATTTGTGCCACAAAA	0.373													T	91484893	G	T	91484893	3	4	227	1	0	0	0	0	1	0	0	0	8287	1377	48	5	2033	5	KIF20B	10	91484893	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	12775857	91484893	44049854	130	114908											
KIF11	3832	broad.mit.edu	37	chr10	94409609	94409610	+	Frame_Shift_Del	DEL	AA	AA	-													aaggtacgacaccacagaggAaaagttatttatacccatca							TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:94409609_94409610delAA	uc001kic.2	+	20	3096_3097	c.2788_2789delAA	c.(2788-2790)AAAfs	p.K930fs	KIF11_uc010qnq.1_RNA	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	930					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			skin(1)	1						ACCACAGAGGAAAAGTTATTTA	0.337													-	94409610	AA	-	94409609	7	5	227	1	0	1	0	1	0	0	0	0	8272	247	9	0	2866	0	KIF11	10	94409609	Frame_Shift_Del	DEL	AA	TCGA-D7-A4YU-01A-21D-A25D-08	2924716	94409609	41125138	131	114909											
C10orf95	79946	broad.mit.edu	37	chr10	104210877	104210877	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccccccaggcggctgctgttCttactgggggctcctgcgga	14	15	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:104210877C>G	uc001kvo.1	-	2	186	c.111G>C	c.(109-111)AAG>AAC	p.K37N	uc001kvp.1_Intron|uc001kvq.1_Intron|uc001kvr.1_5'Flank	NM_024886	NP_079162	Q9H7T3	CJ095_HUMAN	hypothetical protein LOC79946	37										liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GGCTGCTGTTCTTACTGGGGG	0.657													G	104210877	C	G	104210877	3	3	227	1	0	0	0	0	1	0	0	0	1626	912	32	5	666	5	C10orf95	10	104210877	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	9801268	104210877	31323870	132	114910											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118228808	118228808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacattattttttaaacacaGggtccctttccccatttgcc	4	13	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:118228808G>T	uc001lcl.3	+	9	1140	c.1039G>T	c.(1039-1041)GGG>TGG	p.G347W		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	347					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TTTAAACACAGGGTCCCTTTC	0.294													T	118228808	G	T	118228808	3	4	227	1	0	0	0	0	1	0	0	0	12152	1000	35	5	1073	5	PNLIPRP3	10	118228808	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	14017931	118228808	17305939	133	114911											
PTPRE	5791	broad.mit.edu	37	chr10	129869126	129869126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacgggcaacttgccgGcaaacatgaagaaggccagg	15	9	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr10:129869126G>A	uc001lkb.2	+	15	1627	c.1348G>A	c.(1348-1350)GCA>ACA	p.A450T	PTPRE_uc009yat.2_Missense_Mutation_p.A461T|PTPRE_uc009yau.2_Missense_Mutation_p.A450T|PTPRE_uc001lkd.2_Missense_Mutation_p.A392T|PTPRE_uc010quq.1_Missense_Mutation_p.A351T	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	450	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(1)	1		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)				CAACTTGCCGGCAAACATGAA	0.552													A	129869126	G	A	129869126	3	1	227	1	0	0	0	0	1	0	0	0	12800	1203	42	2	1437	2	PTPRE	10	129869126	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	11640318	129869126	5665621	134	114912											
OR52E6	390078	broad.mit.edu	37	chr11	5862280	5862280	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gattgagggtgggaggaacaAccacatatagattagccaag	13	6	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:5862280A>T	uc010qzq.1	-	1	848	c.848T>A	c.(847-849)GTT>GAT	p.V283D	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGGAACAACCACATATAG	0.403													T	5862280	A	T	5862280	3	4	227	1	0	0	0	0	1	0	0	0	11117	43	2	5	95	5	OR52E6	11	5862280	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08		5862280	129144236	135	114913											
OR10A4	283297	broad.mit.edu	37	chr11	6898077	6898077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttcttcctcagaaacTtgtccttcctggagataggt	8	10	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:6898077T>G	uc010rat.1	+	1	199	c.199T>G	c.(199-201)TTG>GTG	p.L67V		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCAGAAACTTGTCCTTCCT	0.458													G	6898077	T	G	6898077	3	3	227	1	0	0	0	0	1	0	0	0	10892	1606	56	5	201	5	OR10A4	11	6898077	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	1035797	6898077	128108439	136	114914											
OR4X2	119764	broad.mit.edu	37	chr11	48267435	48267435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaccactctgcccatagaCaagatggtggctgtgttcta	9	11	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:48267435C>A	uc001ngs.1	+	1	780	c.780C>A	c.(778-780)GAC>GAA	p.D260E		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCCCATAGACAAGATGGTGG	0.512													A	48267435	C	A	48267435	3	1	227	1	0	0	0	0	1	0	0	0	11085	477	17	5	782	5	OR4X2	11	48267435	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	41369358	48267435	86739081	137	114915											
DAGLA	747	broad.mit.edu	37	chr11	61511242	61511242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggcttccgcagcatcCggggctcccccagcctccac	9	21	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:61511242C>T	uc001nsa.2	+	20	2521	c.2410C>T	c.(2410-2412)CGG>TGG	p.R804W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	804	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CCGCAGCATCCGGGGCTCCCC	0.662													T	61511242	C	T	61511242	3	4	227	1	0	0	0	0	1	0	0	0	4226	643	23	1	2484	1	DAGLA	11	61511242	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	13243807	61511242	73495274	138	114916											
AHNAK	79026	broad.mit.edu	37	chr11	62299852	62299852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatcggggcctttaagTtttccccccagaccctccaa	6	15	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:62299852T>C	uc001ntl.2	-	5	2337	c.2037A>G	c.(2035-2037)AAA>AAG	p.K679K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	679					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGCCTTTAAGTTTTCCCCCCA	0.473													C	62299852	T	C	62299852	2	2	227	1	0	0	0	0	0	0	0	1	414	1722	60	3		3	AHNAK	11	62299852	Silent	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	788610	62299852	72706664	139	114917											
NUDT22	84304	broad.mit.edu	37	chr11	63994300	63994300	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accctggctcttcgacgcccCcaagttccgcctgcactcag	8	19	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:63994300C>G	uc001nyp.3	+	2	356	c.176C>G	c.(175-177)CCC>CGC	p.P59R	TRPT1_uc010rnc.1_5'Flank|TRPT1_uc010rnd.1_5'Flank|TRPT1_uc001nyn.2_5'Flank|TRPT1_uc001nyo.2_5'Flank|TRPT1_uc010rne.1_5'Flank|TRPT1_uc010rnf.1_5'Flank|NUDT22_uc009ypd.2_Missense_Mutation_p.P59R|NUDT22_uc009ype.2_Missense_Mutation_p.P59R|NUDT22_uc001nyq.3_Missense_Mutation_p.P59R|NUDT22_uc010rng.1_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety	59							hydrolase activity				0						TTCGACGCCCCCAAGTTCCGC	0.677													G	63994300	C	G	63994300	3	3	227	1	0	0	0	0	1	0	0	0	10739	623	22	5	178	5	NUDT22	11	63994300	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1694448	63994300	71012216	140	114918											
NADSYN1	55191	broad.mit.edu	37	chr11	71209472	71209472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccacgctcacacccgcGtaccacgccgagaactacag	8	17	1	2	rs147528912	byFrequency	TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:71209472G>A	uc001oqn.2	+	20	2094	c.1968G>A	c.(1966-1968)GCG>GCA	p.A656A	NADSYN1_uc001oqo.2_Silent_p.A396A|NADSYN1_uc001oqp.2_Silent_p.A285A	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	656	Ligase (By similarity).				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			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCACACCCGCGTACCACGCCG	0.522													A	71209472	G	A	71209472	2	1	227	1	0	0	0	0	0	0	0	1	10138	1132	40	1		1	NADSYN1	11	71209472	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	7215172	71209472	63797044	141	114919											
FCHSD2	9873	broad.mit.edu	37	chr11	72553748	72553748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgggaaaactccaataCgcccattgaattccccttcc	6	15	0	1	rs147782509		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:72553748C>T	uc009ytl.2	-	17	2065	c.1844G>A	c.(1843-1845)CGT>CAT	p.R615H	FCHSD2_uc010rrg.1_Missense_Mutation_p.R479H|FCHSD2_uc001oth.3_Missense_Mutation_p.R559H|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	615	SH3 2.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AACTCCAATACGCCCATTGAA	0.453													T	72553748	C	T	72553748	3	4	227	1	0	0	0	0	1	0	0	0	5790	536	19	1	394	1	FCHSD2	11	72553748	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1344276	72553748	62452768	142	114920											
KLHL35	283212	broad.mit.edu	37	chr11	75134734	75134734	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttgaagcctccacttAccacagggctggggaggaca	12	13	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:75134734A>G	uc001owm.1	-	5	1122	c.903_splice	c.e5+1	p.V301_splice		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	kelch-like 35												0						GCCTCCACTTACCACAGGGCT	0.473													G	75134734	A	G	75134734	5	3	227	1	0	0	0	0	0	0	1	0	8388	405	14	3	194	3	KLHL35	11	75134734	Splice_Site	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	2580986	75134734	59871782	143	114921											
FAT3	120114	broad.mit.edu	37	chr11	92534886	92534886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccttggagaggcattcTctctttcctccacggccttg	9	14	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:92534886T>G	uc001pdj.3	+	9	8724	c.8707T>G	c.(8707-8709)TCT>GCT	p.S2903A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2903	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGGCATTCTCTCTTTCCTC	0.527										TCGA Ovarian(4;0.039)			G	92534886	T	G	92534886	3	3	227	1	0	0	0	0	1	0	0	0	5691	1551	54	5	8741	5	FAT3	11	92534886	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	17400152	92534886	42471630	144	114922											
FAM55D	54827	broad.mit.edu	37	chr11	114453577	114453577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgttcacgtgggtgAaaggtctgggtgggatctgc	19	5	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:114453577A>G	uc001ppc.2	-	3	444	c.263T>C	c.(262-264)TTC>TCC	p.F88S	FAM55D_uc001ppd.2_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	88						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CACGTGGGTGAAAGGTCTGGG	0.498													G	114453577	A	G	114453577	3	3	227	1	0	0	0	0	1	0	0	0	5587	246	9	3	1387	3	FAM55D	11	114453577	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	21918691	114453577	20552939	145	114923											
OR10G4	390264	broad.mit.edu	37	chr11	123886648	123886648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtcctatgatcgctacTtggccatcagttacccgctc	7	14	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:123886648T>C	uc010sac.1	+	1	367	c.367T>C	c.(367-369)TTG>CTG	p.L123L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		TGATCGCTACTTGGCCATCAG	0.567													C	123886648	T	C	123886648	2	2	227	1	0	0	0	0	0	0	0	1	10901	1606	56	3		3	OR10G4	11	123886648	Silent	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	9433071	123886648	11119868	146	114924											
OR8D2	283160	broad.mit.edu	37	chr11	124189952	124189952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaactgagagcaattaAgaagatcatgcccaggttcc	10	8	1	4			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:124189952A>G	uc010sah.1	-	1	142	c.142T>C	c.(142-144)TTA>CTA	p.L48L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		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)		AGAGCAATTAAGAAGATCATG	0.453													G	124189952	A	G	124189952	2	3	227	1	0	0	0	0	0	0	0	1	11232	69	3	3		3	OR8D2	11	124189952	Silent	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	303304	124189952	10816564	147	114925											
NTM	50863	broad.mit.edu	37	chr11	132177683	132177683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccaatgacgtggccgcGcccgtggtacggagagtaaa	14	12	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr11:132177683G>A	uc001qgp.2	+	4	1291	c.627G>A	c.(625-627)GCG>GCA	p.A209A	NTM_uc001qgm.2_Silent_p.A209A|NTM_uc010sch.1_Silent_p.A200A|NTM_uc010sci.1_Silent_p.A209A|NTM_uc010scj.1_Silent_p.A168A|NTM_uc001qgo.2_Silent_p.A209A|NTM_uc001qgq.2_Silent_p.A209A|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	209	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						ACGTGGCCGCGCCCGTGGTAC	0.582													A	132177683	G	A	132177683	2	1	227	1	0	0	0	0	0	0	0	1	10699	1074	38	1		1	NTM	11	132177683	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	7987731	132177683	2828833	148	114926											
PDE3A	5139	broad.mit.edu	37	chr12	20523121	20523121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtgtccgccgagatgtcCggctgcagcagcaagtccca	13	14	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:20523121C>T	uc001reh.1	+	1	925	c.903C>T	c.(901-903)TCC>TCT	p.S301S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	301					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCGAGATGTCCGGCTGCAGCA	0.587													T	20523121	C	T	20523121	2	4	227	1	0	0	0	0	0	0	0	1	11637	639	23	1		1	PDE3A	12	20523121	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		20523121	113328774	149	114927											
LRRK2	120892	broad.mit.edu	37	chr12	40692165	40692165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaatgacattggacccTcagtggttttagatcctaca	8	10	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:40692165T>C	uc001rmg.3	+	24	3338	c.3217T>C	c.(3217-3219)TCA>CCA	p.S1073P	LRRK2_uc001rmh.1_Missense_Mutation_p.S695P|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1073	LRR 4.				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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATTGGACCCTCAGTGGTTTT	0.368													C	40692165	T	C	40692165	3	2	227	1	0	0	0	0	1	0	0	0	9033	1551	54	3	3311	3	LRRK2	12	40692165	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	20169044	40692165	93159730	150	114928											
DDX23	9416	broad.mit.edu	37	chr12	49224310	49224310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgcctggcttatgcTgggcatctgggtggttggct	18	7	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:49224310T>C	uc001rsm.2	-	17	2496	c.2405A>G	c.(2404-2406)CAG>CGG	p.Q802R		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	802						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TGGCTTATGCTGGGCATCTGG	0.562													C	49224310	T	C	49224310	3	2	227	1	0	0	0	0	1	0	0	0	4350	1580	55	3	61	3	DDX23	12	49224310	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	8532145	49224310	84627585	151	114929											
KRT73	319101	broad.mit.edu	37	chr12	53009982	53009982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaccacttcgcgcacGctcctcagctccgagtccag	7	20	1	0	rs116369374	by1000genomes	TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:53009982G>A	uc001sas.2	-	2	665	c.630C>T	c.(628-630)AGC>AGT	p.S210S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	210	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCGCGCACGCTCCTCAGCT	0.622													A	53009982	G	A	53009982	2	1	227	1	0	0	0	0	0	0	0	1	8486	1078	38	1		1	KRT73	12	53009982	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	3785672	53009982	80841913	152	114930											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		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	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													A	56478854	G	A	56478854	3	1	227	1	0	0	0	0	1	0	0	0	5208	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	3468872	56478854	77373041	153	114931											
PTPRB	5787	broad.mit.edu	37	chr12	71016170	71016170	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacacaccccctccttttacCtcttcagtggtgctggagaa	7	15	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:71016170C>G	uc001swc.3	-	3	752	c.708G>C	c.(706-708)GAG>GAC	p.E236D	PTPRB_uc001swa.3_Missense_Mutation_p.E236D|PTPRB_uc001swd.3_Missense_Mutation_p.E235D|PTPRB_uc009zrr.1_Missense_Mutation_p.E115D|PTPRB_uc001swe.2_Missense_Mutation_p.E236D	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			CTCCTTTTACCTCTTCAGTGG	0.512													G	71016170	C	G	71016170	3	3	227	1	0	0	0	0	1	0	0	0	12796	695	24	5	6125	5	PTPRB	12	71016170	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	14537316	71016170	62835725	154	114932											
E2F7	144455	broad.mit.edu	37	chr12	77436957	77436957	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcagaacattggctatGtcatagaggcgtcgtacctt	11	9	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:77436957G>C	uc001sym.3	-	7	1247	c.1011C>G	c.(1009-1011)GAC>GAG	p.D337E		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	337	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						CATTGGCTATGTCATAGAGGC	0.453													C	77436957	G	C	77436957	3	2	227	1	0	0	0	0	1	0	0	0	4872	1368	48	5	1752	5	E2F7	12	77436957	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	6420787	77436957	56414938	155	114933											
TMCC3	57458	broad.mit.edu	37	chr12	94976035	94976035	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatggagtgagctgatttctGattcttcttctcaaagactt	9	7	4	4			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:94976035G>C	uc001tdj.2	-	2	476	c.358C>G	c.(358-360)CAG>GAG	p.Q120E	TMCC3_uc001tdi.2_Missense_Mutation_p.Q89E	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	120	Potential.					integral to membrane				ovary(1)|skin(1)	2						GCTGATTTCTGATTCTTCTTC	0.488													C	94976035	G	C	94976035	3	2	227	1	0	0	0	0	1	0	0	0	15991	1299	45	5	1087	5	TMCC3	12	94976035	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	17539078	94976035	38875860	156	114934											
NUAK1	9891	broad.mit.edu	37	chr12	106461395	106461395	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcttagaactcaactTggatgggctttcaggcactg	12	10	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:106461395T>G	uc001tlj.1	-	7	2551	c.1171A>C	c.(1171-1173)AAG>CAG	p.K391Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	391							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						GAACTCAACTTGGATGGGCTT	0.527													G	106461395	T	G	106461395	3	3	227	1	0	0	0	0	1	0	0	0	10712	1821	63	5	818	5	NUAK1	12	106461395	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	11485360	106461395	27390500	157	114935											
POLR3B	55703	broad.mit.edu	37	chr12	106897865	106897865	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtttcaaaggcaaccCactgaaggacggtctcgtga	10	10	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:106897865C>A	uc001tlp.2	+	27	3327	c.3105C>A	c.(3103-3105)CCC>CCA	p.P1035P	POLR3B_uc001tlq.2_Silent_p.P977P	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1035					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			ovary(1)|central_nervous_system(1)	2						AAAGGCAACCCACTGAAGGAC	0.323													A	106897865	C	A	106897865	2	1	227	1	0	0	0	0	0	0	0	1	12229	581	21	5		5	POLR3B	12	106897865	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	436470	106897865	26954030	158	114936											
NAA25	80018	broad.mit.edu	37	chr12	112480946	112480946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaagataaaaagagcttaTctggcactgagaacagccag	10	8	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:112480946T>C	uc001ttm.2	-	19	2340	c.2320A>G	c.(2320-2322)ATA>GTA	p.I774V	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.I746V|NAA25_uc009zwa.1_Missense_Mutation_p.I774V	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	774						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AAAGAGCTTATCTGGCACTGA	0.378													C	112480946	T	C	112480946	3	2	227	1	0	0	0	0	1	0	0	0	10121	1435	50	3	622	3	NAA25	12	112480946	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	5583081	112480946	21370949	159	114937											
FZD10	11211	broad.mit.edu	37	chr12	130648665	130648665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcatggacgtcaacgCgctcaccggcttcgtgctca	13	14	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:130648665C>T	uc001uii.2	+	1	1634	c.1178C>T	c.(1177-1179)GCG>GTG	p.A393V	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	393	Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		GACGTCAACGCGCTCACCGGC	0.657													T	130648665	C	T	130648665	3	4	227	1	0	0	0	0	1	0	0	0	6129	768	27	1	1180	1	FZD10	12	130648665	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	18167719	130648665	3203230	160	114938											
DDX51	317781	broad.mit.edu	37	chr12	132624651	132624651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgctcaccggtgcacGtaggttctcaggtactgggg	15	12	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr12:132624651G>A	uc001ujy.3	-	12	1806	c.1767C>T	c.(1765-1767)TAC>TAT	p.Y589Y		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	589	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	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)		ACCGGTGCACGTAGGTTCTCA	0.682													A	132624651	G	A	132624651	2	1	227	1	0	0	0	0	0	0	0	1	4369	1140	40	1		1	DDX51	12	132624651	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1975986	132624651	1227244	161	114939											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235930	20235930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaggcgcgaaagtgaaCggtcggcagaagaacgggac	15	8	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr13:20235930C>T	uc001umh.2	+	8	1893	c.1884C>T	c.(1882-1884)AAC>AAT	p.N628N	MPHOSPH8_uc001umg.2_Silent_p.N628N	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	628	ANK 1.				cell cycle	cytoplasm|nucleus					0		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)		CGAAAGTGAACGGTCGGCAGA	0.552													T	20235930	C	T	20235930	2	4	227	1	0	0	0	0	0	0	0	1	9727	535	19	1		1	MPHOSPH8	13	20235930	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		20235930	94933948	162	114940											
CCNA1	8900	broad.mit.edu	37	chr13	37014301	37014301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacaaggagtgtgcgtcaGgactgagaacctggctaagg	16	8	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr13:37014301G>A	uc001uvr.3	+	6	1429	c.1079G>A	c.(1078-1080)AGG>AAG	p.R360K	CCNA1_uc010teo.1_Missense_Mutation_p.R316K|CCNA1_uc010abq.2_Missense_Mutation_p.R316K|CCNA1_uc010abp.2_Missense_Mutation_p.R316K|CCNA1_uc001uvs.3_Missense_Mutation_p.R359K|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	360					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			lung(2)|skin(2)|ovary(1)	5		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)		GTGTGCGTCAGGACTGAGAAC	0.468													A	37014301	G	A	37014301	3	1	227	1	0	0	0	0	1	0	0	0	2909	1000	35	4	1101	4	CCNA1	13	37014301	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	16778371	37014301	78155577	163	114941											
POSTN	10631	broad.mit.edu	37	chr13	38172767	38172767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggtcccgacccctgatacGactatgagccaagatcttgt	9	12	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr13:38172767G>A	uc001uwo.3	-	1	215	c.97C>T	c.(97-99)CGT>TGT	p.R33C	POSTN_uc001uwp.3_Missense_Mutation_p.R33C|POSTN_uc001uwr.2_Missense_Mutation_p.R33C|POSTN_uc001uwq.2_Missense_Mutation_p.R33C|POSTN_uc010teu.1_Missense_Mutation_p.R33C|POSTN_uc010tev.1_Missense_Mutation_p.R33C|POSTN_uc010tew.1_Missense_Mutation_p.R33C|POSTN_uc010tex.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	33					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		CCCCTGATACGACTATGAGCC	0.378													A	38172767	G	A	38172767	3	1	227	1	0	0	0	0	1	0	0	0	12259	1058	37	1	2505	1	POSTN	13	38172767	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1158466	38172767	76997111	164	114942											
C13orf18	80183	broad.mit.edu	37	chr13	46946558	46946558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagagtgatcgctgatcCcttcccagggctccacagga	11	14	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr13:46946558C>T	uc010acl.2	-	3	658	c.53G>A	c.(52-54)GGG>GAG	p.G18E	C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.G18E|C13orf18_uc001vbh.3_Missense_Mutation_p.G18E|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.G18E|C13orf18_uc010tga.1_Intron	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	18											0		Lung NSC(96;2.31e-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;2.19e-05)		ATCGCTGATCCCTTCCCAGGG	0.502													T	46946558	C	T	46946558	3	4	227	1	0	0	0	0	1	0	0	0	1720	623	22	4	1987	4	C13orf18	13	46946558	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	8773791	46946558	68223320	165	114943											
MYCBP2	23077	broad.mit.edu	37	chr13	77635848	77635848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgaaggaatctgtcacaGtctgtacataaatttccaca	8	8	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr13:77635848G>A	uc001vkf.2	-	76	12829	c.12738C>T	c.(12736-12738)GAC>GAT	p.D4246D	MYCBP2_uc010aev.2_Silent_p.D3650D|MYCBP2_uc001vke.2_Silent_p.D863D	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCTGTCACAGTCTGTACATA	0.358													A	77635848	G	A	77635848	2	1	227	1	0	0	0	0	0	0	0	1	10018	1020	36	4		4	MYCBP2	13	77635848	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	30689290	77635848	37534030	166	114944											
STK24	8428	broad.mit.edu	37	chr13	99109504	99109504	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctaggtagatggcccctcGcagctcttcaatggacccca	10	15	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr13:99109504G>A	uc001vnm.1	-	10	1448	c.1213C>T	c.(1213-1215)CGA>TGA	p.R405*	STK24_uc001vnn.1_Nonsense_Mutation_p.R393*|STK24_uc010tim.1_Nonsense_Mutation_p.R374*	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	405					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATGGCCCCTCGCAGCTCTTCA	0.612													A	99109504	G	A	99109504	4	1	227	1	0	0	0	0	0	1	0	0	15292	1095	38	1	126	1	STK24	13	99109504	Nonsense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	21473656	99109504	16060374	167	114945											
RIPK3	11035	broad.mit.edu	37	chr14	24805445	24805445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggatctttagggcctTcttgcgaacctactggtggg	12	10	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr14:24805445T>C	uc001wpb.2	-	10	1703	c.1493A>G	c.(1492-1494)GAA>GGA	p.E498G	ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.E298G|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.E277G	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	498					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		TTTAGGGCCTTCTTGCGAACC	0.547													C	24805445	T	C	24805445	3	2	227	1	0	0	0	0	1	0	0	0	13382	1783	62	3	67	3	RIPK3	14	24805445	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08		24805445	82544095	168	114946											
NPAS3	64067	broad.mit.edu	37	chr14	34270197	34270197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagcgcagctagcctgaCgcagatgcccgccggcaacg	14	14	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr14:34270197C>T	uc001wru.2	+	12	2748	c.2684C>T	c.(2683-2685)ACG>ATG	p.T895M	NPAS3_uc001wrs.2_Missense_Mutation_p.T882M|NPAS3_uc001wrt.2_Missense_Mutation_p.T863M|NPAS3_uc001wrv.2_Missense_Mutation_p.T865M	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		GCTAGCCTGACGCAGATGCCC	0.657													T	34270197	C	T	34270197	3	4	227	1	0	0	0	0	1	0	0	0	10564	536	19	1	2785	1	NPAS3	14	34270197	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	9464752	34270197	73079343	169	114947											
RHOJ	57381	broad.mit.edu	37	chr14	63757715	63757716	+	Frame_Shift_Ins	INS	-	-	G													agaagaaacgctgttctgagINSggtcacagctgctgttcaat							TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr14:63757714_63757715A>AG	uc001xgb.2	+	4	1103_1104	c.617_618A>AG	c.(616-618)gagfs	p.E206fs		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	Homo sapiens ras homolog gene family, member J (RHOJ), mRNA.	206					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CGCTGTTCTGAGGGTCACAGCT	0.5													G	63757716	-	G	63757715	7	5	227	1	0	1	1	0	0	0	0	0	13341	991	35	0	636	0	RHOJ	14	63757715	Frame_Shift_Ins	INS	-	TCGA-D7-A4YU-01A-21D-A25D-08	29487518	63757715	43591825	170	114948											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552358	102552358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtatccacaatagtgAgagttcgatcttgtttgttc	8	8	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr14:102552358A>G	uc001yku.3	-	3	456	c.266T>C	c.(265-267)CTC>CCC	p.L89P	HSP90AA1_uc001ykv.3_Missense_Mutation_p.L211P|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.L78P	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	89					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			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	CACAATAGTGAGAGTTCGATC	0.423													G	102552358	A	G	102552358	3	3	227	1	0	0	0	0	1	0	0	0	7401	304	11	3	1968	3	HSP90AA1	14	102552358	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	38794643	102552358	4797182	171	114949											
C15orf2	23742	broad.mit.edu	37	chr15	24922934	24922934	+	Frame_Shift_Del	DEL	A	A	-													agttttaaccaactctttggAaaagaagccacccctcagcc							TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:24922933_24922933GA>G	uc001ywo.3	+	0	2393	c.1919_1919GA>G	c.(1918-1920)ggafs	p.G640fs		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	640					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAACTCTTTGGAAAAGAAGCC	0.507													-	24922934	A	-	24922934	7	5	227	1	0	1	0	1	0	0	0	0	1784	233	9	0	1922	0	C15orf2	15	24922934	Frame_Shift_Del	DEL	A	TCGA-D7-A4YU-01A-21D-A25D-08		24922934	77608458	172	114950											
PAK6	56924	broad.mit.edu	37	chr15	40564645	40564645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggcacgcccagatcaGcaccagcaacctgtacctgc	8	18	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:40564645G>A	uc010bbl.2	+	6	1519	c.1079G>A	c.(1078-1080)AGC>AAC	p.S360N	PAK6_uc010bbm.2_Missense_Mutation_p.S360N|PAK6_uc001zky.3_Missense_Mutation_p.S360N|PAK6_uc010bbn.2_Missense_Mutation_p.S360N|PAK6_uc001zlb.2_Missense_Mutation_p.S360N	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	360	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		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)		GCCCAGATCAGCACCAGCAAC	0.672													A	40564645	G	A	40564645	3	1	227	1	0	0	0	0	1	0	0	0	11404	971	34	2	1089	2	PAK6	15	40564645	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	15641711	40564645	61966747	173	114951											
FBN1	2200	broad.mit.edu	37	chr15	48807654	48807655	+	Missense_Mutation	DNP	AA	AA	CT													cggcaactcccaggagttggAatgcagcgtccattttgaca							TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:48807654_48807655AA>CT	uc001zwx.1	-	12	1725_1726	c.1397_1398TT>AG	c.(1396-1398)ATT>AAG	p.I466K		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	466	EGF-like 6.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGAGTTGGAATGCAGCGTCC	0.5													CT	48807655	AA	CT	48807654	3	2	227	1	0	0	0	0	1	0	0	0	5702	242	9	5	7437	5	FBN1	15	48807654	Missense_Mutation	DNP	AA	TCGA-D7-A4YU-01A-21D-A25D-08	8243009	48807654	53723738	174	114952											
FBN1	2200	broad.mit.edu	37	chr15	48818420	48818420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacattcacccccttcacAgattccaggaatggtgctgc	8	13	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:48818420A>G	uc001zwx.1	-	9	1223	c.895T>C	c.(895-897)TGT>CGT	p.C299R		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	299	EGF-like 5; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCCCTTCACAGATTCCAGGA	0.398													G	48818420	A	G	48818420	3	3	227	1	0	0	0	0	1	0	0	0	5702	188	7	3	7952	3	FBN1	15	48818420	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	10766	48818420	53712972	175	114953											
RNF111	54778	broad.mit.edu	37	chr15	59381897	59381897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggctatcctcacatccGttacatttcatcaggattgg	9	11	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:59381897G>A	uc002afv.2	+	11	2861	c.2582G>A	c.(2581-2583)CGT>CAT	p.R861H	RNF111_uc002afs.2_Missense_Mutation_p.R861H|RNF111_uc002aft.2_Missense_Mutation_p.R870H|RNF111_uc002afu.2_Missense_Mutation_p.R860H|RNF111_uc002afw.2_Missense_Mutation_p.R870H|RNF111_uc002afx.2_Missense_Mutation_p.R387H|RNF111_uc002afy.2_Missense_Mutation_p.R12H	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	861					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CCTCACATCCGTTACATTTCA	0.348													A	59381897	G	A	59381897	3	1	227	1	0	0	0	0	1	0	0	0	13425	1145	40	1	2620	1	RNF111	15	59381897	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	10563477	59381897	43149495	176	114954											
NARG2	79664	broad.mit.edu	37	chr15	60741737	60741737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttgcattcctcagggcCaccatccataccagtgacca	6	14	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:60741737C>A	uc002agp.2	-	10	1664	c.1429G>T	c.(1429-1431)GGC>TGC	p.G477C	NARG2_uc002ago.2_Missense_Mutation_p.G340C|NARG2_uc002agq.3_Missense_Mutation_p.G145C	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	477						nucleus				ovary(1)|lung(1)	2						TCCTCAGGGCCACCATCCATA	0.388													A	60741737	C	A	60741737	3	1	227	1	0	0	0	0	1	0	0	0	10169	594	21	5	1547	5	NARG2	15	60741737	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1359840	60741737	41789655	177	114955											
PTPLAD1	51495	broad.mit.edu	37	chr15	65862541	65862541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcaattgaaattttcaGgtgggtagaaatgccaggat	13	4	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:65862541G>A	uc002apc.2	+	8	921	c.773G>A	c.(772-774)AGG>AAG	p.R258K	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.R203K	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	258	Cytoplasmic (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						GAAATTTTCAGGTGGGTAGAA	0.393													A	65862541	G	A	65862541	3	1	227	1	0	0	0	0	1	0	0	0	12775	1014	35	4	803	4	PTPLAD1	15	65862541	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	5120804	65862541	36668851	178	114956											
CPEB1	64506	broad.mit.edu	37	chr15	83296110	83296110	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcttttatccttcctgcTtcttcttcctagacacagaa	3	13	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:83296110T>G	uc002bit.2	-	2	341	c.204A>C	c.(202-204)GAA>GAC	p.E68D	CPEB1_uc002biu.2_Missense_Mutation_p.E35D|CPEB1_uc010uof.1_5'UTR|CPEB1_uc002biv.2_Missense_Mutation_p.E8D	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	8					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCCTTCCTGCTTCTTCTTCCT	0.393													G	83296110	T	G	83296110	3	3	227	1	0	0	0	0	1	0	0	0	3800	1606	56	5	1720	5	CPEB1	15	83296110	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	17433569	83296110	19235282	179	114957											
RGMA	56963	broad.mit.edu	37	chr15	93595502	93595502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgcgcaggcgtggctgCgaggtggggccatccttgga	19	10	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr15:93595502C>T	uc002bss.1	-	3	638	c.366G>A	c.(364-366)TCG>TCA	p.S122S	RGMA_uc002bsq.1_Silent_p.S106S|RGMA_uc010boi.1_Silent_p.S13S|RGMA_uc002bsr.1_Silent_p.S13S|RGMA_uc010urc.1_Silent_p.S130S	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	122					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCGTGGCTGCGAGGTGGGGC	0.667													T	93595502	C	T	93595502	2	4	227	1	0	0	0	0	0	0	0	1	13280	755	27	1		1	RGMA	15	93595502	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	10299392	93595502	8935890	180	114958											
NPW	283869	broad.mit.edu	37	chr16	2070128	2070128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgccgggcccctggccaggGacaccctctcccccgaaccc	10	23	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr16:2070128G>A	uc002coh.3	+	1	608	c.226G>A	c.(226-228)GAC>AAC	p.D76N		NM_001099456	NP_001092926	Q8N729	NPW_HUMAN	neuropeptide W preproprotein	76					feeding behavior|neuropeptide signaling pathway	extracellular region					0						ccTGGCCAGGGACACCCTCTC	0.597													A	2070128	G	A	2070128	3	1	227	1	0	0	0	0	1	0	0	0	10606	1174	41	4	228	4	NPW	16	2070128	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		2070128	88284625	181	114959											
IRX5	10265	broad.mit.edu	37	chr16	54967412	54967412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagggctctccatgccCaccgtgtcccgggcccatag	12	16	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr16:54967412C>T	uc002ehv.2	+	3	1079	c.1079C>T	c.(1078-1080)CCA>CTA	p.P360L	IRX5_uc002ehw.2_Missense_Mutation_p.P294L	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	360					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						TCTCCATGCCCACCGTGTCCC	0.701													T	54967412	C	T	54967412	3	4	227	1	0	0	0	0	1	0	0	0	7847	594	21	4	1089	4	IRX5	16	54967412	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	52897284	54967412	35387341	182	114960											
DPEP3	64180	broad.mit.edu	37	chr16	68011675	68011675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccttcttatcaaggtgtCcgatgcataggacaaatcta	8	10	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr16:68011675C>T	uc002evc.3	-	6	983	c.889G>A	c.(889-891)GAC>AAC	p.D297N	DPEP3_uc010cex.2_Missense_Mutation_p.D297N	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	272					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ATCAAGGTGTCCGATGCATAG	0.488													T	68011675	C	T	68011675	3	4	227	1	0	0	0	0	1	0	0	0	4715	855	30	4	672	4	DPEP3	16	68011675	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	13044263	68011675	22343078	183	114961											
SLC7A6OS	84138	broad.mit.edu	37	chr16	68335220	68335222	+	In_Frame_Del	DEL	CTT	CTT	-													gggctgtcatagccgaactcCttctgcacatccagagggta							TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr16:68335219_68335221CCTT>C	uc002evw.2	-	4	926_928	c.887_889AAGG>G	c.(886-891)aaggag>aGag	p.296_297KE>R	SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evt.2_3'UTR|SLC7A6_uc002evu.2_3'UTR|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	Homo sapiens solute carrier family 7, member 6 opposite strand (SLC7A6OS), mRNA.	296					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TAGCCGAACTCCTTCTGCACATC	0.547													-	68335222	CTT	-	68335220	7	5	227	1	0	1	0	1	0	0	0	0	14702	680	24	0	45	0	SLC7A6OS	16	68335220	In_Frame_Del	DEL	CTT	TCGA-D7-A4YU-01A-21D-A25D-08	323545	68335220	22019533	184	114962											
CDH1	999	broad.mit.edu	37	chr16	68842415	68842415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagagactgggttattcCtcccatcagctgcccagaaa	10	11	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr16:68842415C>T	uc002ewg.1	+	4	600	c.476C>T	c.(475-477)CCT>CTT	p.P159L	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.P159L	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	159	Cadherin 1.|Extracellular (Potential).				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	p.V157_Q177del(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		TGGGTTATTCCTCCCATCAGC	0.473			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68842415	C	T	68842415	3	4	227	1	0	0	0	0	1	0	0	0	3095	681	24	4	490	4	CDH1	16	68842415	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	507195	68842415	21512338	185	114963											
YWHAE	7531	broad.mit.edu	37	chr17	1264561	1264561	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgtttcctgtggcaaAttctgccagatacctgtggt	10	11	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:1264561A>T	uc002fsj.2	-	4	555	c.403T>A	c.(403-405)TTT>ATT	p.F135I	YWHAE_uc002fsk.2_Missense_Mutation_p.F113I|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	135					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CCTGTGGCAAATTCTGCCAGA	0.388													T	1264561	A	T	1264561	3	4	227	1	0	0	0	0	1	0	0	0	17499	101	4	5	376	5	YWHAE	17	1264561	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08		1264561	79930649	186	114964											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccactcggataagatgctGaggaggggccagacctaaga	13	9	0	4			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:7578275G>A	uc002gim.2	-	6	768	c.574C>T	c.(574-576)CAG>TAG	p.Q192*	TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	192	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (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).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578275	G	A	7578275	4	1	227	1	0	0	0	0	0	1	0	0	16378	1299	45	4	720	4	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	6313714	7578275	73616935	187	114965											
SEZ6	124925	broad.mit.edu	37	chr17	27284988	27284988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggcatgagggcaggtccTcactccaagttaggtcccac	11	13	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:27284988T>C	uc002hdp.2	-	11	2473	c.2279A>G	c.(2278-2280)GAG>GGG	p.E760G	SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.E760G|SEZ6_uc002hdq.1_Missense_Mutation_p.E635G	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	760	Extracellular (Potential).|Sushi 3.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	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)			GGGCAGGTCCTCACTCCAAGT	0.468													C	27284988	T	C	27284988	3	2	227	1	0	0	0	0	1	0	0	0	14142	1551	54	3	746	3	SEZ6	17	27284988	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	19706713	27284988	53910222	188	114966											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939281	27939281	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgcctcctggcttcccAgttaagattggtgagaccgc	11	13	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:27939281A>G	uc002hei.2	+	11	1361	c.1248A>G	c.(1246-1248)CCA>CCG	p.P416P	ANKRD13B_uc002heh.2_Silent_p.P284P|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	416											0						CTGGCTTCCCAGTTAAGATTG	0.622													G	27939281	A	G	27939281	2	3	227	1	0	0	0	0	0	0	0	1	642	175	7	3		3	ANKRD13B	17	27939281	Silent	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	654293	27939281	53255929	189	114967											
NEUROD2	4761	broad.mit.edu	37	chr17	37762570	37762570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccgctcgccctccgcctCgtccagtccttcttcctcct	8	21	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:37762570C>T	uc002hry.2	-	2	483	c.283G>A	c.(283-285)GAG>AAG	p.E95K		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	95					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				0	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)			CCCTCCGCCTCGTCCAGTCCT	0.502													T	37762570	C	T	37762570	3	4	227	1	0	0	0	0	1	0	0	0	10349	893	31	1	869	1	NEUROD2	17	37762570	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	9823289	37762570	43432640	190	114968											
KRT10	3858	broad.mit.edu	37	chr17	38978350	38978350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttccagagcccgaactTtgtccaagtaggaagccagg	10	11	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:38978350T>C	uc002hvi.2	-	1	514	c.488A>G	c.(487-489)AAA>AGA	p.K163R	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	163	Coil 1A.|Rod.|Gly-rich.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				AGCCCGAACTTTGTCCAAGTA	0.418													C	38978350	T	C	38978350	3	2	227	1	0	0	0	0	1	0	0	0	8448	1841	64	3	1298	3	KRT10	17	38978350	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	1215780	38978350	42216860	191	114969											
KRT20	54474	broad.mit.edu	37	chr17	39041346	39041346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccataaacgctgggtgtcGtcccgaggcgctgcatgccc	12	16	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:39041346G>A	uc002hvl.2	-	1	134	c.92C>T	c.(91-93)ACG>ATG	p.T31M		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	31	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGGGTGTCGTCCCGAGGCG	0.607													A	39041346	G	A	39041346	3	1	227	1	0	0	0	0	1	0	0	0	8458	1145	40	1	1214	1	KRT20	17	39041346	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	62996	39041346	42153864	192	114970											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839908	40839908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctcccgtctgggggaCgggctgggccacgtggagct	16	12	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:40839908C>T	uc002iay.2	+	8	1431	c.1215C>T	c.(1213-1215)GAC>GAT	p.D405D	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	405	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTCTGGGGGACGGGCTGGGCC	0.652													T	40839908	C	T	40839908	2	4	227	1	0	0	0	0	0	0	0	1	3646	535	19	1		1	CNTNAP1	17	40839908	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1798562	40839908	40355302	193	114971											
SOST	50964	broad.mit.edu	37	chr17	41833119	41833119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagctcgcggcagctgTactcggacacgtctgtggag	15	11	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:41833119T>G	uc002iec.1	-	2	280	c.233A>C	c.(232-234)TAC>TCC	p.Y78S		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	78					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				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GCGGCAGCTGTACTCGGACAC	0.726													G	41833119	T	G	41833119	3	3	227	1	0	0	0	0	1	0	0	0	14938	1638	57	5	412	5	SOST	17	41833119	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	993211	41833119	39362091	194	114972											
MPP3	4356	broad.mit.edu	37	chr17	41907136	41907136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaattcttctgggcaacCgtgtcatgtaccatgagcac	8	11	4	1	rs34890360		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:41907136C>T	uc002iei.3	-	7	493	c.327G>A	c.(325-327)ACG>ACA	p.T109T	MPP3_uc002ieh.2_Silent_p.T134T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.T109T|MPP3_uc010wik.1_Silent_p.T134T|MPP3_uc010czj.1_3'UTR	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	109	L27 2.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	p.T109T(1)		large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCTGGGCAACCGTGTCATGTA	0.572													T	41907136	C	T	41907136	2	4	227	1	0	0	0	0	0	0	0	1	9735	639	23	1		1	MPP3	17	41907136	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	74017	41907136	39288074	195	114973											
BTBD17	388419	broad.mit.edu	37	chr17	72353345	72353345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttggcgtagtgcagcggCgacgcggcgtggaactggta	17	9	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:72353345C>T	uc002jkn.2	-	3	888	c.888G>A	c.(886-888)TCG>TCA	p.S296S		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	296						extracellular region					0						AGTGCAGCGGCGACGCGGCGT	0.716													T	72353345	C	T	72353345	2	4	227	1	0	0	0	0	0	0	0	1	1542	755	27	1		1	BTBD17	17	72353345	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	30446209	72353345	8841865	196	114974											
TMEM104	54868	broad.mit.edu	37	chr17	72832361	72832361	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacatgtacaccctcaacttCgcgcgctgtgacgtcgtggg	12	13	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr17:72832361C>T	uc002jls.3	+	10	1188	c.1026C>T	c.(1024-1026)TTC>TTT	p.F342F	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.F342F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	342	Extracellular (Potential).					integral to membrane					0	all_lung(278;0.23)					CCCTCAACTTCGCGCGCTGTG	0.612													T	72832361	C	T	72832361	2	4	227	1	0	0	0	0	0	0	0	1	16015	883	31	1		1	TMEM104	17	72832361	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	479016	72832361	8362849	197	114975											
PTPRM	5797	broad.mit.edu	37	chr18	8343485	8343485	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacgaaaacactgcaagtatCatcatggtgaccaatcttgt	7	10	3	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:8343485C>G	uc002knn.3	+	21	3485	c.2982C>G	c.(2980-2982)ATC>ATG	p.I994M	PTPRM_uc010dkv.2_Missense_Mutation_p.I1007M|PTPRM_uc010wzl.1_Missense_Mutation_p.I781M	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	994	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CTGCAAGTATCATCATGGTGA	0.453													G	8343485	C	G	8343485	3	3	227	1	0	0	0	0	1	0	0	0	12806	816	29	5	3111	5	PTPRM	18	8343485	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		8343485	69733763	198	114976											
CEP192	55125	broad.mit.edu	37	chr18	13049226	13049226	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatacttgggatttatcTttgcccaaagaacaaactac	6	9	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:13049226T>G	uc010xac.1	+	16	2516	c.2436T>G	c.(2434-2436)TCT>TCG	p.S812S	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S337S|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Silent_p.S553S	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	812										ovary(4)|pancreas(1)	5						GGGATTTATCTTTGCCCAAAG	0.373													G	13049226	T	G	13049226	2	3	227	1	0	0	0	0	0	0	0	1	3251	1596	56	5		5	CEP192	18	13049226	Silent	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	4705741	13049226	65028022	199	114977											
CTAGE1	64693	broad.mit.edu	37	chr18	19995611	19995611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacctctcggtaaatagaCatttctcattgcaaatggag	7	8	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:19995611C>T	uc002ktv.1	-	1	2268	c.2164G>A	c.(2164-2166)GTC>ATC	p.V722I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	722	Pro-rich.					integral to membrane				ovary(1)	1	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)					GGTAAATAGACATTTCTCATT	0.507													T	19995611	C	T	19995611	3	4	227	1	0	0	0	0	1	0	0	0	3992	478	17	4	77	4	CTAGE1	18	19995611	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	6946385	19995611	58081637	200	114978											
ZNF521	25925	broad.mit.edu	37	chr18	22806293	22806293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaacctgtctaatatgcTcttccagggaagagtcagtg	10	8	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:22806293T>C	uc002kvk.2	-	4	1836	c.1589A>G	c.(1588-1590)GAG>GGG	p.E530G	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E530G|ZNF521_uc002kvl.2_Missense_Mutation_p.E310G	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	530	C2H2-type 12.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTAATATGCTCTTCCAGGGA	0.458			T	PAX5	ALL								C	22806293	T	C	22806293	3	2	227	1	0	0	0	0	1	0	0	0	17962	1551	54	3	2366	3	ZNF521	18	22806293	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	2810682	22806293	55270955	201	114979											
ZNF521	25925	broad.mit.edu	37	chr18	22806855	22806855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgtgaccagggaagggcTgttgctgtgattgcatgact	14	9	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:22806855T>C	uc002kvk.2	-	4	1274	c.1027A>G	c.(1027-1029)AGC>GGC	p.S343G	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S343G|ZNF521_uc002kvl.2_Missense_Mutation_p.S123G	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	343					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGGAAGGGCTGTTGCTGTGA	0.547			T	PAX5	ALL								C	22806855	T	C	22806855	3	2	227	1	0	0	0	0	1	0	0	0	17962	1580	55	3	2928	3	ZNF521	18	22806855	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	562	22806855	55270393	202	114980											
CELF4	56853	broad.mit.edu	37	chr18	34833871	34833871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggatggcggtctgcGcgctggccgggttgtcgaag	19	10	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:34833871G>A	uc002lae.2	-	12	1760	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V	CELF4_uc010dnd.1_Missense_Mutation_p.A453V|CELF4_uc002lag.2_Missense_Mutation_p.A417V|CELF4_uc002laf.2_Missense_Mutation_p.A449V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	455	RRM 3.				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			ovary(2)	2						GGCGGTCTGCGCGCTGGCCGG	0.532													A	34833871	G	A	34833871	3	1	227	1	0	0	0	0	1	0	0	0	3218	1087	38	1	100	1	CELF4	18	34833871	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	12027016	34833871	43243377	203	114981											
SYT4	6860	broad.mit.edu	37	chr18	40854178	40854178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttatcatctgctccaaaCttctttttgctatttaggtt	4	8	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:40854178C>A	uc002law.2	-	2	585	c.216G>T	c.(214-216)AAG>AAT	p.K72N	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.K54N|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	72	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						CTGCTCCAAACTTCTTTTTGC	0.363													A	40854178	C	A	40854178	3	1	227	1	0	0	0	0	1	0	0	0	15473	564	20	5	1073	5	SYT4	18	40854178	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	6020307	40854178	37223070	204	114982											
KIAA1632	57724	broad.mit.edu	37	chr18	43510773	43510773	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catagaagaaagacacttctCaaagttggtaaaatgttctg	8	6	2	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:43510773C>T	uc002lbm.2	-	12	2381	c.2281G>A	c.(2281-2283)GAG>AAG	p.E761K	KIAA1632_uc002lbo.1_Missense_Mutation_p.E761K	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	761					autophagy						0						AGACACTTCTCAAAGTTGGTA	0.378													T	43510773	C	T	43510773	3	4	227	1	0	0	0	0	1	0	0	0	8249	835	29	4	5590	4	KIAA1632	18	43510773	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	2656595	43510773	34566475	205	114983											
DCC	1630	broad.mit.edu	37	chr18	51013309	51013309	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcagtggaccgaggtttCggagcaggaagaagtcagtg	15	8	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:51013309C>T	uc002lfe.1	+	26	4466	c.3879C>T	c.(3877-3879)TTC>TTT	p.F1293F	DCC_uc010dpf.1_Silent_p.F928F	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1293	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCGAGGTTTCGGAGCAGGAA	0.473													T	51013309	C	T	51013309	2	4	227	1	0	0	0	0	0	0	0	1	4282	883	31	1		1	DCC	18	51013309	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	7502536	51013309	27063939	206	114984											
RNF152	220441	broad.mit.edu	37	chr18	59483266	59483266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcctggggagccccaCcttgcagaggctgctgttca	12	16	1	1	rs146480133		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:59483266C>A	uc002lih.1	-	2	843	c.431G>T	c.(430-432)GGT>GTT	p.G144V		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	144					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				GGGAGCCCCACCTTGCAGAGG	0.677													A	59483266	C	A	59483266	3	1	227	1	0	0	0	0	1	0	0	0	13453	507	18	5	184	5	RNF152	18	59483266	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	8469957	59483266	18593982	207	114985											
ZNF236	7776	broad.mit.edu	37	chr18	74620433	74620433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtggtcgcagcgaaccccGaggccatgctggacctggag	16	12	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr18:74620433G>A	uc002lmi.2	+	14	2647	c.2449G>A	c.(2449-2451)GAG>AAG	p.E817K	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	817					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		AGCGAACCCCGAGGCCATGCT	0.627													A	74620433	G	A	74620433	3	1	227	1	0	0	0	0	1	0	0	0	17786	1059	37	1	2503	1	ZNF236	18	74620433	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	15137167	74620433	3456815	208	114986											
THEG	51298	broad.mit.edu	37	chr19	367066	367066	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaggcacctacttactGgccaagtgaaggaggcggtt	14	10	0	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:367066G>T	uc002lol.2	-	7	951	c.912C>A	c.(910-912)GCC>GCA	p.A304A	THEG_uc002lom.2_Silent_p.A280A	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	304	THEG 5.				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		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)		CCTACTTACTGGCCAAGTGAA	0.572													T	367066	G	T	367066	2	4	227	1	0	0	0	0	0	0	0	1	15854	1362	47	5		5	THEG	19	367066	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		367066	58761917	209	114987											
MKNK2	2872	broad.mit.edu	37	chr19	2043500	2043500	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaagggtggctcacctAcctgtgtccctggcactggt	14	12	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:2043500A>T	uc002lus.2	-	6	664	c.419_splice	c.e6+1	p.R140_splice	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Splice_Site|MKNK2_uc010xgv.1_Splice_Site_p.R9_splice|MKNK2_uc002lur.2_Splice_Site_p.R140_splice|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	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			lung(1)|breast(1)	2		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)		TGGCTCACCTACCTGTGTCCC	0.587													T	2043500	A	T	2043500	5	4	227	1	0	0	0	0	0	0	1	0	9605	405	14	5	1107	5	MKNK2	19	2043500	Splice_Site	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	1676434	2043500	57085483	210	114988											
PIP5K1C	23396	broad.mit.edu	37	chr19	3656413	3656413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgcaccatgtagtagCcagggagcagcttctgcagg	14	12	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:3656413C>A	uc002lyj.1	-	6	668	c.611G>T	c.(610-612)GGC>GTC	p.G204V	PIP5K1C_uc010xhq.1_Missense_Mutation_p.G204V|PIP5K1C_uc010xhr.1_Missense_Mutation_p.G204V	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	204	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		CATGTAGTAGCCAGGGAGCAG	0.637													A	3656413	C	A	3656413	3	1	227	1	0	0	0	0	1	0	0	0	11941	739	26	5	1447	5	PIP5K1C	19	3656413	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1612913	3656413	55472570	211	114989											
ZBTB7A	51341	broad.mit.edu	37	chr19	4047779	4047779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccggctgtgaagttaccgtCggtggcggccccggggccac	16	14	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:4047779C>T	uc002lzh.2	-	3	1801	c.1726G>A	c.(1726-1728)GAC>AAC	p.D576N	ZBTB7A_uc002lzi.2_Missense_Mutation_p.D576N	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	576					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		AAGTTACCGTCGGTGGCGGCC	0.542													T	4047779	C	T	4047779	3	4	227	1	0	0	0	0	1	0	0	0	17550	884	31	1	32	1	ZBTB7A	19	4047779	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	391366	4047779	55081204	212	114990											
SAFB	6294	broad.mit.edu	37	chr19	5668283	5668283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggcccagcgatgcccGcttcactcgccgctactgag	12	16	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:5668283G>A	uc002mcf.2	+	21	2782	c.2729G>A	c.(2728-2730)CGC>CAC	p.R910H	SAFB_uc002mcg.2_Missense_Mutation_p.R912H|SAFB_uc002mce.3_Missense_Mutation_p.R911H|SAFB_uc010xir.1_Missense_Mutation_p.R909H|SAFB_uc010xis.1_Missense_Mutation_p.R843H|SAFB_uc010xit.1_Missense_Mutation_p.R754H|SAFB_uc010xiu.1_Missense_Mutation_p.R711H	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	910	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGCGATGCCCGCTTCACTCGC	0.592													A	5668283	G	A	5668283	3	1	227	1	0	0	0	0	1	0	0	0	13806	1087	38	1	2811	1	SAFB	19	5668283	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1620504	5668283	53460700	213	114991											
TUBB4	10382	broad.mit.edu	37	chr19	6495840	6495840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgacaccaggtggttgaggtCcccgtaggtgggggtggtca	18	9	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:6495840C>A	uc002mfg.1	-	4	777	c.670G>T	c.(670-672)GAC>TAC	p.D224Y	TUBB4_uc002mff.1_Missense_Mutation_p.D152Y|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	224					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		TGGTTGAGGTCCCCGTAGGTG	0.627													A	6495840	C	A	6495840	3	1	227	1	0	0	0	0	1	0	0	0	16755	855	30	5	668	5	TUBB4	19	6495840	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	827557	6495840	52633143	214	114992											
C3	718	broad.mit.edu	37	chr19	6707206	6707206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagatgaaacgggtccggCgctggcacgagaacctcatg	16	10	1	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:6707206C>T	uc002mfm.2	-	17	2188	c.2126G>A	c.(2125-2127)CGC>CAC	p.R709H		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	709	Anaphylatoxin-like.				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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACGGGTCCGGCGCTGGCACGA	0.662													T	6707206	C	T	6707206	3	4	227	1	0	0	0	0	1	0	0	0	2204	768	27	1	2965	1	C3	19	6707206	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	211366	6707206	52421777	215	114993											
ZNF358	140467	broad.mit.edu	37	chr19	7584566	7584566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctccccgcccccgccagCccgccccggcccttctcctg	9	25	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:7584566C>T	uc002mgn.2	+	2	608	c.438C>T	c.(436-438)AGC>AGT	p.S146S	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	146					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						cccccgccagcccgccccggc	0.602													T	7584566	C	T	7584566	2	4	227	1	0	0	0	0	0	0	0	1	17864	738	26	2		2	ZNF358	19	7584566	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	877360	7584566	51544417	216	114994											
OR7D4	125958	broad.mit.edu	37	chr19	9325365	9325365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaggtgggagtcagagCtgacggccagaatgatgagc	18	6	1	5			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:9325365C>T	uc002mla.1	-	1	149	c.149G>A	c.(148-150)AGC>AAC	p.S50N		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GGAGTCAGAGCTGACGGCCAG	0.547													T	9325365	C	T	9325365	3	4	227	1	0	0	0	0	1	0	0	0	11220	797	28	2	793	2	OR7D4	19	9325365	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	1740799	9325365	49803618	217	114995											
ZNF85	7639	broad.mit.edu	37	chr19	21131694	21131694	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtatggatgagtgtaAgatgcacaaaggaggttgta	14	2	0	3			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:21131694A>C	uc002npg.3	+	4	501	c.374A>C	c.(373-375)AAG>ACG	p.K125T	ZNF85_uc010ecn.2_Missense_Mutation_p.K60T|ZNF85_uc010eco.2_Missense_Mutation_p.K73T|ZNF85_uc002npi.2_Missense_Mutation_p.K66T	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						GATGAGTGTAAGATGCACAAA	0.323													C	21131694	A	C	21131694	3	2	227	1	0	0	0	0	1	0	0	0	18190	72	3	5	388	5	ZNF85	19	21131694	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	11806329	21131694	37997289	218	114996											
ZNF208	7757	broad.mit.edu	37	chr19	22157195	22157195	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttataataagtaagggttGaggaccagttaaaagctttg	10	4	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:22157195G>T	uc002nqp.2	-	4	790	c.641C>A	c.(640-642)TCA>TAA	p.S214*	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTAAGGGTTGAGGACCAGTT	0.358													T	22157195	G	T	22157195	4	4	227	1	0	0	0	0	0	1	0	0	17763	1294	45	5	3205	5	ZNF208	19	22157195	Nonsense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	1025501	22157195	36971788	219	114997											
ZNF257	113835	broad.mit.edu	37	chr19	22271400	22271400	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaattcataatagagagaAgcccttcaaatatgatgaat	8	5	2	5			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:22271400A>C	uc010ecx.2	+	4	1017	c.848A>C	c.(847-849)AAG>ACG	p.K283T	ZNF257_uc010ecy.2_Missense_Mutation_p.K251T	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATAGAGAGAAGCCCTTCAAA	0.388													C	22271400	A	C	22271400	3	2	227	1	0	0	0	0	1	0	0	0	17797	72	3	5	862	5	ZNF257	19	22271400	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	114205	22271400	36857583	220	114998											
ZNF790	388536	broad.mit.edu	37	chr19	37310610	37310610	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtctgatattgaataacTtctgaatcaggaagaaaggt	9	5	3	4			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:37310610T>G	uc002oew.2	-	5	755	c.636A>C	c.(634-636)GAA>GAC	p.E212D	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	212	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTGAATAACTTCTGAATCAG	0.338													G	37310610	T	G	37310610	3	3	227	1	0	0	0	0	1	0	0	0	18159	1606	56	5	1278	5	ZNF790	19	37310610	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	15039210	37310610	21818373	221	114999											
ZNF296	162979	broad.mit.edu	37	chr19	45575376	45575376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatggacagccggctccGgaggggctgcagaggcctgc	17	13	0	1	rs143888878		TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:45575376G>A	uc002pao.2	-	3	968	c.911C>T	c.(910-912)CCG>CTG	p.P304L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	304					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCCGGCTCCGGAGGGGCTGC	0.706													A	45575376	G	A	45575376	3	1	227	1	0	0	0	0	1	0	0	0	17825	1116	39	1	520	1	ZNF296	19	45575376	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	8264766	45575376	13553607	222	115000											
PRR12	57479	broad.mit.edu	37	chr19	50098208	50098208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccctcttcactgggcttcGagcgcctggcagggggcggt	16	13	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:50098208G>A	uc002poo.3	+	4	616	c.616G>A	c.(616-618)GAG>AAG	p.E206K		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACTGGGCTTCGAGCGCCTGGC	0.701													A	50098208	G	A	50098208	3	1	227	1	0	0	0	0	1	0	0	0	12584	1059	37	1	630	1	PRR12	19	50098208	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	4522832	50098208	9030775	223	115001											
NR1H2	7376	broad.mit.edu	37	chr19	50885722	50885722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccctcaggaccagctgCgcttcccgcgcatgctcatg	9	18	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:50885722C>T	uc010enw.2	+	11	1525	c.1249C>T	c.(1249-1251)CGC>TGC	p.R417C	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R372C|NR1H2_uc002psa.3_Missense_Mutation_p.R319C|POLD1_uc002psb.3_5'Flank|POLD1_uc002psc.3_5'Flank|POLD1_uc010enx.2_5'Flank	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	416	Ligand-binding (Potential).				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				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGACCAGCTGCGCTTCCCGCG	0.677													T	50885722	C	T	50885722	3	4	227	1	0	0	0	0	1	0	0	0	10617	768	27	1	1276	1	NR1H2	19	50885722	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	787514	50885722	8243261	224	115002											
ZNF615	284370	broad.mit.edu	37	chr19	52497583	52497583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgagttctctgatggTccattagtctggattttctg	10	7	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:52497583T>C	uc002pye.1	-	6	1038	c.746A>G	c.(745-747)GAC>GGC	p.D249G	ZNF615_uc002pyf.1_Missense_Mutation_p.D260G|ZNF615_uc002pyg.1_Missense_Mutation_p.D141G|ZNF615_uc002pyh.1_Missense_Mutation_p.D260G|ZNF615_uc010epi.1_Missense_Mutation_p.D256G|ZNF615_uc010ydg.1_Missense_Mutation_p.D254G	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	249	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCTGATGGTCCATTAGTCT	0.378													C	52497583	T	C	52497583	3	2	227	1	0	0	0	0	1	0	0	0	18037	1667	58	3	1453	3	ZNF615	19	52497583	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	1611861	52497583	6631400	225	115003											
ZNF606	80095	broad.mit.edu	37	chr19	58491010	58491010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattctcatattctttgtaAttatactggttttctccaac	3	8	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr19:58491010A>G	uc002qqw.2	-	7	1656	c.1038T>C	c.(1036-1038)AAT>AAC	p.N346N	ZNF606_uc010yhp.1_Silent_p.N256N	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		ATTCTTTGTAATTATACTGGT	0.323													G	58491010	A	G	58491010	2	3	227	1	0	0	0	0	0	0	0	1	18029	98	4	3		3	ZNF606	19	58491010	Silent	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	5993427	58491010	637973	226	115004											
C20orf160	140706	broad.mit.edu	37	chr20	30602748	30602748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggtgttccccaaggcCgggcgccgggcagcctgtag	17	13	0	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr20:30602748C>T	uc002wxf.2	+	2	85	c.72C>T	c.(70-72)GCC>GCT	p.A24A		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	24										central_nervous_system(3)|ovary(1)	4						TCCCCAAGGCCGGGCGCCGGG	0.582													T	30602748	C	T	30602748	2	4	227	1	0	0	0	0	0	0	0	1	2093	639	23	1		1	C20orf160	20	30602748	Silent	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		30602748	32422772	227	115005											
BLCAP	10904	broad.mit.edu	37	chr20	36147344	36147344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacgccgggatcatgcgccGattctggaagcggggaatcg	15	11	2	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr20:36147344G>A	uc002xha.2	-	2	436	c.233C>T	c.(232-234)TCG>TTG	p.S78L	BLCAP_uc002xhb.2_Missense_Mutation_p.S78L|BLCAP_uc002xhc.2_Missense_Mutation_p.S78L|NNAT_uc002xhd.2_5'Flank|NNAT_uc002xhe.2_5'Flank	NM_006698	NP_006689	P62952	BLCAP_HUMAN	bladder cancer associated protein	78					apoptosis|cell cycle	integral to membrane					0		Myeloproliferative disorder(115;0.00878)				ATCATGCGCCGATTCTGGAAG	0.547													A	36147344	G	A	36147344	3	1	227	1	0	0	0	0	1	0	0	0	1442	1059	37	1	34	1	BLCAP	20	36147344	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	5544596	36147344	26878176	228	115006											
SPINLW1	57119	broad.mit.edu	37	chr20	44174305	44174305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctaaacatttttttcCgcagctgaagacacaacact	6	10	1	3	rs112762127	byFrequency	TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr20:44174305C>T	uc002xou.2	-	2	228	c.196G>A	c.(196-198)GGA>AGA	p.G66R	SPINLW1_uc010zxc.1_Missense_Mutation_p.G66R|SPINLW1_uc002xot.2_Missense_Mutation_p.G50R|SPINLW1_uc002xov.1_Missense_Mutation_p.G66R	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	66	WAP.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				CATTTTTTTCCGCAGCTGAAG	0.448													T	44174305	C	T	44174305	3	4	227	1	0	0	0	0	1	0	0	0	15066	661	23	1	217	1	SPINLW1	20	44174305	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	8026961	44174305	18851215	229	115007											
KCNG1	3755	broad.mit.edu	37	chr20	49626481	49626481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgcagcttgcccgcgCgcaggaaggtcaggatagtg	16	12	1	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr20:49626481C>T	uc002xwa.3	-	2	690	c.395G>A	c.(394-396)CGC>CAC	p.R132H	KCNG1_uc002xwb.2_Missense_Mutation_p.R132H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	132	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CTTGCCCGCGCGCAGGAAGGT	0.647													T	49626481	C	T	49626481	3	4	227	1	0	0	0	0	1	0	0	0	8027	768	27	1	1154	1	KCNG1	20	49626481	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	5452176	49626481	13399039	230	115008											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653531	19653531	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacttggatggctctaAgtttctcctgaaaattgtaa	8	8	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr21:19653531A>C	uc002ykw.2	-	22	2525	c.2494T>G	c.(2494-2496)TTA>GTA	p.L832V		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	832	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GATGGCTCTAAGTTTCTCCTG	0.373													C	19653531	A	C	19653531	3	2	227	1	0	0	0	0	1	0	0	0	16243	69	3	5	581	5	TMPRSS15	21	19653531	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08		19653531	28476364	231	115009											
TIAM1	7074	broad.mit.edu	37	chr21	32493119	32493119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtttcgagccagccgcCgcctcctcctcccaagagac	8	19	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr21:32493119C>T	uc002yow.1	-	29	4815	c.4343G>A	c.(4342-4344)CGG>CAG	p.R1448Q	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1388Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1448	Poly-Arg.				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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AGCCAGCCGCCGCCTCCTCCT	0.537													T	32493119	C	T	32493119	3	4	227	1	0	0	0	0	1	0	0	0	15887	652	23	1	436	1	TIAM1	21	32493119	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08	12839588	32493119	15636776	232	115010											
RFPL1	5988	broad.mit.edu	37	chr22	29837692	29837692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgctttacctgtggcCgccactactgggaggtggac	12	15	0	0	rs142632131	byFrequency	TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chr22:29837692C>T	uc003afn.2	+	2	744	c.535C>T	c.(535-537)CGC>TGC	p.R179C	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	179	B30.2/SPRY.						zinc ion binding				0						TACCTGTGGCCGCCACTACTG	0.567													T	29837692	C	T	29837692	3	4	227	1	0	0	0	0	1	0	0	0	13253	652	23	1	541	1	RFPL1	22	29837692	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		29837692	21466874	233	115011											
FRMPD4	9758	broad.mit.edu	37	chrX	12627882	12627882	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgacgaccctcggttagaGagctgccaaatcatccctcc	8	14	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrX:12627882G>A	uc004cuz.1	+	3	707	c.201G>A	c.(199-201)GAG>GAA	p.E67E	FRMPD4_uc011mij.1_Silent_p.E59E	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	67					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						CTCGGTTAGAGAGCTGCCAAA	0.522													A	12627882	G	A	12627882	2	1	227	1	0	0	0	0	0	0	0	1	6059	933	33	4		4	FRMPD4	23	12627882	Silent	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08		12627882	142642678	234	115012											
MED12	9968	broad.mit.edu	37	chrX	70347218	70347218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaagcatgggatgaaccGgtccgatggctcctctgcag	14	11	1	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrX:70347218G>A	uc004dyy.2	+	21	3081	c.2882G>A	c.(2881-2883)CGG>CAG	p.R961Q	MED12_uc011mpq.1_Missense_Mutation_p.R961Q|MED12_uc004dyz.2_Missense_Mutation_p.R961Q|MED12_uc004dza.2_Missense_Mutation_p.R808Q|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GGGATGAACCGGTCCGATGGC	0.522													A	70347218	G	A	70347218	3	1	227	1	0	0	0	0	1	0	0	0	9428	1116	39	1	2964	1	MED12	23	70347218	Missense_Mutation	SNP	G	TCGA-D7-A4YU-01A-21D-A25D-08	57719336	70347218	84923342	235	115013											
KLHL4	56062	broad.mit.edu	37	chrX	86887303	86887303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaatttggagtcgcagTtattgataataagctctatg	9	6	2	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrX:86887303T>C	uc004efb.2	+	7	1600	c.1418T>C	c.(1417-1419)GTT>GCT	p.V473A	KLHL4_uc004efa.2_Missense_Mutation_p.V473A	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	473	Kelch 1.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GGAGTCGCAGTTATTGATAAT	0.403													C	86887303	T	C	86887303	3	2	227	1	0	0	0	0	1	0	0	0	8391	1725	60	3	1444	3	KLHL4	23	86887303	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	16540085	86887303	68383257	236	115014											
CPXCR1	53336	broad.mit.edu	37	chrX	88008710	88008710	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcagacccccattcccagaAaattggtctctcacaagccc	5	16	3	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrX:88008710A>T	uc004efd.3	+	3	554	c.295A>T	c.(295-297)AAA>TAA	p.K99*	CPXCR1_uc004efc.3_Nonsense_Mutation_p.K99*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	99						intracellular	zinc ion binding			ovary(3)	3						CATTCCCAGAAAATTGGTCTC	0.408													T	88008710	A	T	88008710	4	4	227	1	0	0	0	0	0	1	0	0	3836	15	1	5	297	5	CPXCR1	23	88008710	Nonsense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	1121407	88008710	67261850	237	115015											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298766	125298766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccctctcctccaggaacTtctgggcgcggatgtcatag	12	13	3	0			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrX:125298766T>G	uc004euk.1	-	1	1169	c.1142A>C	c.(1141-1143)AAG>ACG	p.K381T		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	381	WD 4.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTCCAGGAACTTCTGGGCGCG	0.632													G	125298766	T	G	125298766	3	3	227	1	0	0	0	0	1	0	0	0	4265	1609	56	5	253	5	DCAF12L2	23	125298766	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	37290056	125298766	29971794	238	115016											
GABRE	2564	broad.mit.edu	37	chrX	151123878	151123878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgggcttttgtctggtTgtagatcaggaagttgagca	14	5	2	2			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrX:151123878T>G	uc004ffi.2	-	8	1153	c.1099A>C	c.(1099-1101)AAC>CAC	p.N367H	GABRE_uc011myd.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	367	Cytoplasmic (Probable).				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			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTCTGGTTGTAGATCAGG	0.493													G	151123878	T	G	151123878	3	3	227	1	0	0	0	0	1	0	0	0	6170	1812	63	5	429	5	GABRE	23	151123878	Missense_Mutation	SNP	T	TCGA-D7-A4YU-01A-21D-A25D-08	25825112	151123878	4146682	239	115017											
PNMA3	29944	broad.mit.edu	37	chrX	152226465	152226465	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagagtctggaggggctggaAgtagccccaaggccacctgc	16	11	1	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrX:152226465A>T	uc004fhc.2	+	2	1389	c.1053A>T	c.(1051-1053)GAA>GAT	p.E351D	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	351					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTGGAAGTAGCCCCAA	0.428													T	152226465	A	T	152226465	3	4	227	1	0	0	0	0	1	0	0	0	12155	69	3	5	1055	5	PNMA3	23	152226465	Missense_Mutation	SNP	A	TCGA-D7-A4YU-01A-21D-A25D-08	1102587	152226465	3044095	240	115018											
SRY	6736	broad.mit.edu	37	chrY	2655179	2655179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgttgtccagttgcacttCgctgcagagtaccgaagcgg	12	12	0	1			TCGA-D7-A4YU-01A-21D-A25D-08	TCGA-D7-A4YU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63220bf2-a703-4487-b97c-3be4140b4f0d	63ddf1ce-74da-436e-ab08-d445c7b1860a	g.chrY:2655179C>T	uc004fqg.1	-	1	614	c.466G>A	c.(466-468)GAA>AAA	p.E156K		NM_003140	NP_003131	Q05066	SRY_HUMAN	sex determining region Y	156					cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0						AGTTGCACTTCGCTGCAGAGT	0.527									Swyer_syndrome				T	2655179	C	T	2655179	3	4	227	1	0	0	0	0	1	0	0	0	15173	893	31	1	152	1	SRY	24	2655179	Missense_Mutation	SNP	C	TCGA-D7-A4YU-01A-21D-A25D-08		2655179	56718387	241	115019											
KIAA1751	85452	broad.mit.edu	37	chr1	1919973	1919973	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catcttctcagtgaaaagctCttgctcctcatgcatcttat	5	12	5	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:1919973C>A	uc001aim.1	-	4	430	c.274G>T	c.(274-276)GAG>TAG	p.E92*	KIAA1751_uc009vkz.1_Nonsense_Mutation_p.E92*|KIAA1751_uc001ain.1_Nonsense_Mutation_p.E92*	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	92										pancreas(1)	1	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTGAAAAGCTCTTGCTCCTCA	0.562													A	1919973	C	A	1919973	4	1	228	1	0	0	0	0	0	1	0	0	8256	922	32	5	2074	5	KIAA1751	1	1919973	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		1919973	247330648	1	115020											
MORN1	79906	broad.mit.edu	37	chr1	2318864	2318864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggcgccagaccttcccGcatgccgtgggagacctccc	13	16	0	2	rs144594161	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:2318864G>A	uc001ajb.1	-	4	373	c.352C>T	c.(352-354)CGG>TGG	p.R118W	MORN1_uc009vld.2_Missense_Mutation_p.R94W|MORN1_uc001ajd.1_Missense_Mutation_p.R118W|MORN1_uc010nyy.1_Silent_p.C60C	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	118	MORN 4.									ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGACCTTCCCGCATGCCGTGG	0.602													A	2318864	G	A	2318864	3	1	228	1	0	0	0	0	1	0	0	0	9708	1086	38	1	1185	1	MORN1	1	2318864	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	398891	2318864	246931757	2	115021											
SLC2A5	6518	broad.mit.edu	37	chr1	9118284	9118284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggcagctatcagggttGccagggcaagcacaagcgtc	13	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:9118284G>A	uc001apo.2	-	2	351	c.59C>T	c.(58-60)GCA>GTA	p.A20V	SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_5'UTR|SLC2A5_uc010oab.1_Missense_Mutation_p.A20V|SLC2A5_uc010oac.1_Missense_Mutation_p.A20V|SLC2A5_uc001app.3_Missense_Mutation_p.A20V	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	20	Helical; Name=1; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	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)		TATCAGGGTTGCCAGGGCAAG	0.572													A	9118284	G	A	9118284	3	1	228	1	0	0	0	0	1	0	0	0	14548	1319	46	2	1654	2	SLC2A5	1	9118284	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6799420	9118284	240132337	3	115022											
NMNAT1	64802	broad.mit.edu	37	chr1	10032227	10032227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgtttgagctggccaaGgactacatgaatggaacagg	14	6	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:10032227G>A	uc001aqp.2	+	2	240	c.96G>A	c.(94-96)AAG>AAA	p.K32K		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	nicotinamide mononucleotide adenylyltransferase	32					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding				0		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)		AGCTGGCCAAGGACTACATGA	0.363													A	10032227	G	A	10032227	2	1	228	1	0	0	0	0	0	0	0	1	10498	991	35	4		4	NMNAT1	1	10032227	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	913943	10032227	239218394	4	115023											
AADACL3	126767	broad.mit.edu	37	chr1	12779578	12779578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcccgatgttgtggtcacGgatttccgctttgggacaat	12	9	1	0	rs139336643	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:12779578G>A	uc009vnn.1	+	2	332	c.99G>A	c.(97-99)ACG>ACA	p.T33T	AADACL3_uc001aug.1_Intron	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	33							hydrolase activity				0	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)		TTGTGGTCACGGATTTCCGCT	0.512													A	12779578	G	A	12779578	2	1	228	1	0	0	0	0	0	0	0	1	12	1103	39	1		1	AADACL3	1	12779578	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2747351	12779578	236471043	5	115024											
PRAMEF1	65121	broad.mit.edu	37	chr1	12853598	12853598	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgatgaagacgcttcaTttggagaccttaaaagcatt	8	8	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:12853598T>C	uc001auj.1	+	2	325	c.222T>C	c.(220-222)CAT>CAC	p.H74H		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	74											0	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)		AGACGCTTCATTTGGAGACCT	0.557													C	12853598	T	C	12853598	2	2	228	1	0	0	0	0	0	0	0	1	12425	1490	52	3		3	PRAMEF1	1	12853598	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	74020	12853598	236397023	6	115025											
CLCNKA	1187	broad.mit.edu	37	chr1	16378297	16378297	+	Frame_Shift_Del	DEL	G	G	-													tcaccaatcccatcatgccaGgggggtatgctctggcaggt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:16378296_16378296AG>A	uc001axx.4	+	13	1525	c.1389_1389AG>A	c.(1387-1389)ccafs	p.P463fs	CLCNKA_uc021ogl.1_Frame_Shift_Del_p.P110fs|CLCNKA_uc021ogm.1_Frame_Shift_Del_p.P294fs|CLCNKA_uc001axy.4_Frame_Shift_Del_p.P294fs	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	463					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)	CCATCATGCCAGGGGGGTATG	0.622													-	16378297	G	-	16378297	7	5	228	1	0	1	0	1	0	0	0	0	3469	1000	35	0		0	CLCNKA	1	16378297	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	3524699	16378297	232872324	7	115026											
TAS1R2	80834	broad.mit.edu	37	chr1	19166144	19166144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgttgaagtaggcgggCgtgttgcgctccgggtagaa	17	7	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:19166144C>T	uc001bba.1	-	6	2470	c.2469G>A	c.(2467-2469)ACG>ACA	p.T823T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	823	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	AGTAGGCGGGCGTGTTGCGCT	0.612													T	19166144	C	T	19166144	2	4	228	1	0	0	0	0	0	0	0	1	15560	755	27	1		1	TAS1R2	1	19166144	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2787847	19166144	230084477	8	115027											
UBR4	23352	broad.mit.edu	37	chr1	19423058	19423058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaatctctgatccctgCgagtctgttaagcatgcatt	8	10	2	2	rs142148172		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:19423058C>T	uc001bbi.2	-	92	13481	c.13477G>A	c.(13477-13479)GCA>ACA	p.A4493T	UBR4_uc010ocv.1_Missense_Mutation_p.A56T|UBR4_uc009vph.2_Missense_Mutation_p.A127T|UBR4_uc010ocw.1_Missense_Mutation_p.A157T|UBR4_uc001bbg.2_Missense_Mutation_p.A204T|UBR4_uc001bbh.2_Missense_Mutation_p.A202T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4493					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		CTGATCCCTGCGAGTCTGTTA	0.498													T	19423058	C	T	19423058	3	4	228	1	0	0	0	0	1	0	0	0	16901	768	27	1	2134	1	UBR4	1	19423058	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	256914	19423058	229827563	9	115028											
HTR6	3362	broad.mit.edu	37	chr1	19992867	19992867	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggtgccatatgcttcacCtactgcaggatcctgctagc	10	13	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:19992867C>A	uc001bcl.2	+	1	1088	c.621C>A	c.(619-621)ACC>ACA	p.T207T		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	207	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		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)	TATGCTTCACCTACTGCAGGA	0.667													A	19992867	C	A	19992867	2	1	228	1	0	0	0	0	0	0	0	1	7451	668	24	5		5	HTR6	1	19992867	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	569809	19992867	229257754	10	115029											
UBXN11	91544	broad.mit.edu	37	chr1	26610635	26610635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttagcattggcctcacctGcaaggtgtccctgatggggc	13	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:26610635G>T	uc001blw.2	-	13	1348	c.1075C>A	c.(1075-1077)CAG>AAG	p.Q359K	UBXN11_uc001blz.1_Missense_Mutation_p.Q326K|UBXN11_uc001blv.2_Missense_Mutation_p.Q321K|UBXN11_uc001bly.2_Missense_Mutation_p.Q239K|UBXN11_uc001blx.2_Missense_Mutation_p.Q117K|UBXN11_uc001bma.2_Missense_Mutation_p.Q326K|UBXN11_uc001bmb.1_Missense_Mutation_p.Q359K	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	359						cytoplasm|cytoskeleton				ovary(1)	1						GGCCTCACCTGCAAGGTGTCC	0.577													T	26610635	G	T	26610635	3	4	228	1	0	0	0	0	1	0	0	0	16910	1328	46	5	503	5	UBXN11	1	26610635	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6617768	26610635	222639986	11	115030											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	228	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	495296	27105931	222144690	12	115031											
BAI2	576	broad.mit.edu	37	chr1	32207741	32207741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgccacgctgcacttccGgctgcgctgttgggtcccat	12	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:32207741G>A	uc001btn.2	-	8	1684	c.1330C>T	c.(1330-1332)CGG>TGG	p.R444W	BAI2_uc010ogo.1_Missense_Mutation_p.R86W|BAI2_uc010ogp.1_Missense_Mutation_p.R377W|BAI2_uc010ogq.1_Missense_Mutation_p.R444W|BAI2_uc001bto.2_Missense_Mutation_p.R444W|BAI2_uc001btq.1_Missense_Mutation_p.R377W|BAI2_uc010ogr.1_Missense_Mutation_p.R377W	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	444	TSP type-1 3.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCACTTCCGGCTGCGCTGT	0.667													A	32207741	G	A	32207741	3	1	228	1	0	0	0	0	1	0	0	0	1299	1115	39	1	3531	1	BAI2	1	32207741	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5101810	32207741	217042880	13	115032											
CSMD2	114784	broad.mit.edu	37	chr1	34238278	34238278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaacttgagtgtgtcacCgtggtgaaaccgggagcctt	12	10	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:34238278C>T	uc001bxn.1	-	13	1647	c.1618G>A	c.(1618-1620)GGT>AGT	p.G540S	CSMD2_uc001bxm.1_Missense_Mutation_p.G580S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	540	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTGTGTCACCGTGGTGAAAC	0.542													T	34238278	C	T	34238278	3	4	228	1	0	0	0	0	1	0	0	0	3945	652	23	1	9073	1	CSMD2	1	34238278	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2030537	34238278	215012343	14	115033											
CSMD2	114784	broad.mit.edu	37	chr1	34401395	34401395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggaagtcccacgtggcGctgttctcagagccagcgtg	16	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:34401395G>A	uc001bxn.1	-	4	587	c.558C>T	c.(556-558)AGC>AGT	p.S186S	CSMD2_uc001bxm.1_Silent_p.S226S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	186	Sushi 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCACGTGGCGCTGTTCTCAG	0.632													A	34401395	G	A	34401395	2	1	228	1	0	0	0	0	0	0	0	1	3945	1078	38	1		1	CSMD2	1	34401395	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	163117	34401395	214849226	15	115034											
CSF3R	1441	broad.mit.edu	37	chr1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-													ttgttgctattgctcgcgctGggggggcccaggccccactc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:36935322_36935322TG>T	uc001caw.2	-	10	1989	c.1405_1405CA>A	c.(1405-1407)agcfs	p.S469fs	CSF3R_uc001cav.2_Frame_Shift_Del_p.S469fs|CSF3R_uc001cax.2_Frame_Shift_Del_p.S469fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCC	0.637													-	36935323	G	-	36935323	7	5	228	1	0	1	0	1	0	0	0	0	3937	1335	47	0	1324	0	CSF3R	1	36935323	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	2533928	36935323	212315298	16	115035											
COL9A2	1298	broad.mit.edu	37	chr1	40775807	40775807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagtggcaccgatagcGcccaccatgcctttatatcc	9	16	0	0	rs150444024	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:40775807G>A	uc001cfh.1	-	15	838	c.768C>T	c.(766-768)GGC>GGT	p.G256G	COL9A2_uc001cfi.1_Silent_p.G75G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	256	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	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)			CACCGATAGCGCCCACCATGC	0.617													A	40775807	G	A	40775807	2	1	228	1	0	0	0	0	0	0	0	1	3708	1074	38	1		1	COL9A2	1	40775807	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3840484	40775807	208474814	17	115036											
HIVEP3	59269	broad.mit.edu	37	chr1	42045430	42045430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcatgcggggcttgcggGagctggatggcacaagcctt	16	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:42045430G>A	uc001cgz.3	-	4	6252	c.5039C>T	c.(5038-5040)TCC>TTC	p.S1680F	HIVEP3_uc001cha.3_Missense_Mutation_p.S1680F|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1680					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCTTGCGGGAGCTGGATGG	0.512													A	42045430	G	A	42045430	3	1	228	1	0	0	0	0	1	0	0	0	7188	1174	41	4	2205	4	HIVEP3	1	42045430	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1269623	42045430	207205191	18	115037											
GUCA2B	2981	broad.mit.edu	37	chr1	42620422	42620422	+	Frame_Shift_Del	DEL	C	C	-													gaggcacagtgggcacccagCccccgcctgcaggcccagag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:42620421_42620421GC>G	uc001chc.1	+	1	191	c.161_161GC>G	c.(160-162)agcfs	p.S54fs		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	54					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGGCACCCAGCCCCCGCCTG	0.652													-	42620422	C	-	42620422	7	5	228	1	0	1	0	1	0	0	0	0	6892	738	26	0	168	0	GUCA2B	1	42620422	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	574992	42620422	206630199	19	115038											
ZNF691	51058	broad.mit.edu	37	chr1	43317170	43317170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagagcttcagccagagtGccacgctagctgtgcatcac	11	13	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:43317170G>A	uc001cih.2	+	2	673	c.622G>A	c.(622-624)GCC>ACC	p.A208T	ZNF691_uc001cig.2_Missense_Mutation_p.A181T|ZNF691_uc009vwm.2_Missense_Mutation_p.A201T	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	212	C2H2-type 4.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGCCAGAGTGCCACGCTAGC	0.602													A	43317170	G	A	43317170	3	1	228	1	0	0	0	0	1	0	0	0	18093	1319	46	2	543	2	ZNF691	1	43317170	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	696748	43317170	205933451	20	115039											
PTPRF	5792	broad.mit.edu	37	chr1	44069448	44069448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttcggcaaggatgaccaGcacttcacagtcaccggcct	10	13	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:44069448G>A	uc001cjr.2	+	16	2965	c.2625G>A	c.(2623-2625)CAG>CAA	p.Q875Q	PTPRF_uc001cjs.2_Silent_p.Q866Q|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.Q435Q|PTPRF_uc001cjv.2_Silent_p.Q335Q|PTPRF_uc001cjw.2_Silent_p.Q101Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	875	Extracellular (Potential).|Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGATGACCAGCACTTCACAG	0.622													A	44069448	G	A	44069448	2	1	228	1	0	0	0	0	0	0	0	1	12801	962	34	2		2	PTPRF	1	44069448	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	752278	44069448	205181173	21	115040											
KLF17	128209	broad.mit.edu	37	chr1	44595246	44595246	+	Frame_Shift_Del	DEL	C	C	-													gagcgtggtatgagctactgCccccaagcgactctcactcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:44595245_44595245GC>G	uc001clp.3	+	1	360	c.302_302GC>G	c.(301-303)tgcfs	p.C101fs	KLF17_uc009vxf.1_Frame_Shift_Del_p.C64fs	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	101					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)					ATGAGCTACTGCCCCCAAGCG	0.567													-	44595246	C	-	44595246	7	5	228	1	0	1	0	1	0	0	0	0	8345	747	26	0	309	0	KLF17	1	44595246	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	525798	44595246	204655375	22	115041											
TMEM53	79639	broad.mit.edu	37	chr1	45120567	45120567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaacaggcgcagcatggcGgcccggcgctccaggatggc	16	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:45120567G>A	uc001cmc.2	-	3	534	c.498C>T	c.(496-498)GCC>GCT	p.A166A	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.A93A|TMEM53_uc009vxh.1_Silent_p.A49A|TMEM53_uc010ola.1_Silent_p.A49A	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	166						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					GCAGCATGGCGGCCCGGCGCT	0.662													A	45120567	G	A	45120567	2	1	228	1	0	0	0	0	0	0	0	1	16176	1103	39	1		1	TMEM53	1	45120567	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	525321	45120567	204130054	23	115042											
PTCH2	8643	broad.mit.edu	37	chr1	45292983	45292983	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcagcctggattccTgggggagaccaggatagggt	16	8	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:45292983T>C	uc010olf.1	-	16	2384	c.2372_splice	c.e16-1	p.G791_splice	PTCH2_uc010olg.1_Splice_Site_p.G489_splice	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTGGATTCCTGGGGGAGACC	0.642									Basal_Cell_Nevus_syndrome				C	45292983	T	C	45292983	5	2	228	1	0	0	0	0	0	0	1	0	12731	1594	55	3	1289	3	PTCH2	1	45292983	Splice_Site	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	172416	45292983	203957638	24	115043											
CYP4B1	1580	broad.mit.edu	37	chr1	47279636	47279636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactctgttgatgcagcagCgccttgtgtccttccagtac	9	13	2	1	rs144659997	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:47279636C>T	uc001cqm.3	+	6	757	c.673C>T	c.(673-675)CGC>TGC	p.R225C	CYP4B1_uc009vyl.1_Missense_Mutation_p.R62C|CYP4B1_uc001cqn.3_Missense_Mutation_p.R226C|CYP4B1_uc009vym.2_Missense_Mutation_p.R211C|CYP4B1_uc010omk.1_Missense_Mutation_p.R62C|CYP4B1_uc010oml.1_Missense_Mutation_p.R63C	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	225					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GATGCAGCAGCGCCTTGTGTC	0.582													T	47279636	C	T	47279636	3	4	228	1	0	0	0	0	1	0	0	0	4185	768	27	1	698	1	CYP4B1	1	47279636	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1986653	47279636	201970985	25	115044											
TAL1	6886	broad.mit.edu	37	chr1	47691475	47691476	+	Frame_Shift_Ins	INS	-	-	G													gttcagcaggaccaggtgcgINSggggggccatgctggcctcg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:47691474_47691475C>CG	uc001cqx.2	-	1	663_664	c.86_87G>CG	c.(85-87)ccgfs	p.P29fs	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Frame_Shift_Ins_p.P29fs|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	29					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						GGACCAGGTGCGGGGGGGCCAT	0.762			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								G	47691476	-	G	47691475	7	5	228	1	0	1	1	0	0	0	0	0	15538	1116	39	0	921	0	TAL1	1	47691475	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	411839	47691475	201559146	26	115045											
SLC5A9	200010	broad.mit.edu	37	chr1	48701406	48701406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctctccccaggtctgCgggggctgatgattgccgtg	14	13	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:48701406C>T	uc001cro.2	+	10	1199	c.1147C>T	c.(1147-1149)CGG>TGG	p.R383W	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R408W|SLC5A9_uc010omt.1_Missense_Mutation_p.R397W|SLC5A9_uc001crp.2_Missense_Mutation_p.R50W|SLC5A9_uc010omu.1_Missense_Mutation_p.R50W	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	383	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCCAGGTCTGCGGGGGCTGAT	0.582													T	48701406	C	T	48701406	3	4	228	1	0	0	0	0	1	0	0	0	14672	759	27	1	1264	1	SLC5A9	1	48701406	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1009931	48701406	200549215	27	115046											
GLIS1	148979	broad.mit.edu	37	chr1	54060253	54060254	+	Frame_Shift_Ins	INS	-	-	G													ccccagatctcccgtcagagINSgggggctccggagtccattt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:54060252_54060253A>AG	uc001cvr.1	-	2	890_891	c.323_324T>CT	c.(322-324)cctfs	p.P108fs		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	108					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						CTCCCGTCAGAGGGGGGCTCCG	0.658													G	54060254	-	G	54060253	7	5	228	1	0	1	1	0	0	0	0	0	6445	1000	35	0	1571	0	GLIS1	1	54060253	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	5358847	54060253	195190368	28	115047											
DNAJC6	9829	broad.mit.edu	37	chr1	65852598	65852598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtcaaccattgggagcCggctacaggctaaggtatgg	15	8	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:65852598C>T	uc001dcd.1	+	8	1092	c.928C>T	c.(928-930)CGG>TGG	p.R310W	DNAJC6_uc001dcc.1_Missense_Mutation_p.R341W|DNAJC6_uc010opc.1_Missense_Mutation_p.R297W|DNAJC6_uc001dce.1_Missense_Mutation_p.R367W	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	310	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						CATTGGGAGCCGGCTACAGGC	0.428													T	65852598	C	T	65852598	3	4	228	1	0	0	0	0	1	0	0	0	4653	643	23	1	958	1	DNAJC6	1	65852598	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	11792345	65852598	183398023	29	115048											
IL23R	149233	broad.mit.edu	37	chr1	67724745	67724745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggagttgccatctatTaatacttattttccacaaaa	5	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:67724745T>C	uc001ddo.2	+	11	1909	c.1824T>C	c.(1822-1824)ATT>ATC	p.I608I	IL23R_uc009waz.2_Silent_p.I405I|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Silent_p.I206I|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Silent_p.I190I|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Silent_p.I354I|IL23R_uc010opn.1_Silent_p.I453I|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Silent_p.I405I|IL23R_uc010opt.1_Silent_p.I249I|IL23R_uc010opu.1_Silent_p.I304I|IL23R_uc010opv.1_Silent_p.I366I|IL23R_uc010opw.1_Silent_p.I243I|IL23R_uc010opx.1_Silent_p.I249I|IL23R_uc010opy.1_Silent_p.I375I|IL23R_uc010opz.1_Silent_p.I249I|IL23R_uc010oqa.1_Silent_p.I249I|IL23R_uc010oqb.1_Silent_p.I437I|IL23R_uc010oqc.1_Silent_p.I324I|IL23R_uc010oqd.1_Silent_p.I243I|IL23R_uc010oqe.1_Silent_p.I206I|IL23R_uc010oqf.1_Silent_p.I206I|IL23R_uc010oqg.1_Silent_p.I206I|IL23R_uc010oqh.1_Silent_p.I249I|IL23R_uc001dds.2_Silent_p.I353I|IL23R_uc001ddt.2_Silent_p.I206I	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	608	Cytoplasmic (Potential).				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				0						TGCCATCTATTAATACTTATT	0.388													C	67724745	T	C	67724745	2	2	228	1	0	0	0	0	0	0	0	1	7676	1742	61	3		3	IL23R	1	67724745	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1872147	67724745	181525876	30	115049											
HHLA3	11147	broad.mit.edu	37	chr1	70820683	70820683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaccctccggatctgagCctcccgcagaggaatgcaga	10	13	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:70820683C>T	uc001dfa.2	+	1	191	c.49C>T	c.(49-51)CCT>TCT	p.P17S	ANKRD13C_uc001dex.3_5'Flank|ANKRD13C_uc009wbk.2_5'Flank|ANKRD13C_uc001dey.3_5'Flank|HHLA3_uc010oqp.1_RNA|HHLA3_uc001dfb.2_Missense_Mutation_p.P17S|HHLA3_uc001dfc.2_Missense_Mutation_p.P17S	NM_001036645	NP_001031722	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3 isoform 2	17							protein binding				0						CGGATCTGAGCCTCCCGCAGA	0.468													T	70820683	C	T	70820683	3	4	228	1	0	0	0	0	1	0	0	0	7096	739	26	2	51	2	HHLA3	1	70820683	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3095938	70820683	178429938	31	115050											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648472	74648472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattctttaactttgcaaacCcattgtcatgaagatagagt	6	7	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:74648472C>A	uc001dfy.3	-	3	515	c.323G>T	c.(322-324)GGG>GTG	p.G108V	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	108	LRR 3.									ovary(2)	2						CTTTGCAAACCCATTGTCATG	0.313													A	74648472	C	A	74648472	3	1	228	1	0	0	0	0	1	0	0	0	9030	623	22	5	1575	5	LRRIQ3	1	74648472	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3827789	74648472	174602149	32	115051											
SSX2IP	117178	broad.mit.edu	37	chr1	85136860	85136860	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattatttagacttaattacCtgaagacagacctggatctg	7	7	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:85136860C>A	uc001dkh.2	-	3	318	c.43G>T	c.(43-45)GAA>TAA	p.E15*	SSX2IP_uc001dkf.2_5'Flank|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Intron|SSX2IP_uc001dki.2_Nonsense_Mutation_p.E15*|SSX2IP_uc010osa.1_Intron|SSX2IP_uc001dkj.2_Nonsense_Mutation_p.E15*|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Intron	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	15					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACTTAATTACCTGAAGACAGA	0.343													A	85136860	C	A	85136860	4	1	228	1	0	0	0	0	0	1	0	0	15203	695	24	5	1853	5	SSX2IP	1	85136860	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	10488388	85136860	164113761	33	115052											
CLCA4	22802	broad.mit.edu	37	chr1	87025638	87025638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgactacagcttctacGtacctgtttgaagccacaga	9	10	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:87025638G>A	uc009wcs.2	+	2	227	c.183G>A	c.(181-183)ACG>ACA	p.T61T	CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAGCTTCTACGTACCTGTTTG	0.348													A	87025638	G	A	87025638	2	1	228	1	0	0	0	0	0	0	0	1	3459	1132	40	1		1	CLCA4	1	87025638	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1888778	87025638	162224983	34	115053											
CLCA4	22802	broad.mit.edu	37	chr1	87043755	87043755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaggctgggtagtgaacGgtgagtaactcatgatattt	12	6	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:87043755G>A	uc009wcs.2	+	12	2166	c.2122G>A	c.(2122-2124)GGG>AGG	p.G708R	CLCA4_uc009wct.2_Missense_Mutation_p.G471R|CLCA4_uc009wcu.2_Missense_Mutation_p.G528R	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	708						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGTAGTGAACGGTGAGTAACT	0.388													A	87043755	G	A	87043755	3	1	228	1	0	0	0	0	1	0	0	0	3459	1130	39	1	2168	1	CLCA4	1	87043755	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	18117	87043755	162206866	35	115054											
HFM1	164045	broad.mit.edu	37	chr1	91781980	91781980	+	Frame_Shift_Del	DEL	T	T	-													ccttgcatctgtctcttctaTttttttaaaggaagtcaaac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:91781980delT	uc001doa.3	-	26	2966	c.2866delA	c.(2866-2868)ATAfs	p.I956fs	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Frame_Shift_Del_p.I635fs|HFM1_uc001dob.3_Frame_Shift_Del_p.I144fs|HFM1_uc010osv.1_Frame_Shift_Del_p.I640fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		GTCTCTTCTATTTTTTTAAAG	0.294													-	91781980	T	-	91781980	7	5	228	1	0	1	0	1	0	0	0	0	7083	1493	52	0	1497	0	HFM1	1	91781980	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	4738225	91781980	157468641	36	115055											
BTBD8	284697	broad.mit.edu	37	chr1	92568203	92568203	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagaggatatcagtgacaGagatgatgatttcatttcca	9	7	2	5			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:92568203G>T	uc001doo.2	+	3	788	c.521G>T	c.(520-522)AGA>ATA	p.R174I	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	174						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333													T	92568203	G	T	92568203	3	4	228	1	0	0	0	0	1	0	0	0	1547	942	33	5	531	5	BTBD8	1	92568203	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	786223	92568203	156682418	37	115056											
ABCA4	24	broad.mit.edu	37	chr1	94520763	94520763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagctgaattcgtcccCttccgtgggactgttcccga	11	13	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:94520763C>A	uc001dqh.2	-	16	2595	c.2491G>T	c.(2491-2493)GGG>TGG	p.G831W	ABCA4_uc010otn.1_Missense_Mutation_p.G757W	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	831					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		AATTCGTCCCCTTCCGTGGGA	0.537													A	94520763	C	A	94520763	3	1	228	1	0	0	0	0	1	0	0	0	34	681	24	5	4470	5	ABCA4	1	94520763	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1952560	94520763	154729858	38	115057											
LPPR4	9890	broad.mit.edu	37	chr1	99771242	99771242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctctcaaacactaggGcttgtatgctgtggggaatt	11	8	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:99771242G>A	uc001dse.2	+	7	1074	c.968G>A	c.(967-969)GGC>GAC	p.G323D	LPPR4_uc010oue.1_Missense_Mutation_p.G265D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	323	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		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)		AAACACTAGGGCTTGTATGCT	0.453													A	99771242	G	A	99771242	3	1	228	1	0	0	0	0	1	0	0	0	8927	1217	42	2	994	2	LPPR4	1	99771242	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5250479	99771242	149479379	39	115058											
AGL	178	broad.mit.edu	37	chr1	100330093	100330094	+	Frame_Shift_Ins	INS	-	-	A													gacagctagtggaaaaattaINSaaaaaggaatggaatgttat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:100330092_100330093T>TA	uc001dsi.1	+	4	1011_1012	c.611_612T>TA	c.(610-612)ttafs	p.L204fs	AGL_uc001dsj.1_Frame_Shift_Ins_p.L204fs|AGL_uc001dsk.1_Frame_Shift_Ins_p.L204fs|AGL_uc001dsl.1_Frame_Shift_Ins_p.L204fs|AGL_uc001dsm.1_Frame_Shift_Ins_p.L188fs|AGL_uc001dsn.1_Frame_Shift_Ins_p.L187fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	204					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)		GTGGAAAAATTAAAAAAGGAAT	0.337													A	100330094	-	A	100330093	7	5	228	1	0	1	1	0	0	0	0	0	384	359	13	0	695	0	AGL	1	100330093	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	558851	100330093	148920528	40	115059											
ATXN7L2	127002	broad.mit.edu	37	chr1	110033760	110033760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtagccaggcagagtgCatgggcgggagccaggctat	17	10	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110033760C>T	uc001dxr.2	+	10	1590	c.1575C>T	c.(1573-1575)TGC>TGT	p.C525C	ATXN7L2_uc001dxs.2_Silent_p.C152C|ATXN7L2_uc001dxt.2_Silent_p.C28C|CYB561D1_uc010ovl.1_5'Flank|CYB561D1_uc010ovm.1_5'Flank|CYB561D1_uc001dxu.2_5'Flank|CYB561D1_uc001dxw.2_5'Flank|CYB561D1_uc010ovn.1_5'Flank|CYB561D1_uc010ovo.1_5'Flank|CYB561D1_uc009wfd.2_5'Flank|CYB561D1_uc010ovp.1_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	525										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGGCAGAGTGCATGGGCGGGA	0.657											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	110033760	C	T	110033760	2	4	228	1	0	0	0	0	0	0	0	1	1217	718	25	2		2	ATXN7L2	1	110033760	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9703667	110033760	139216861	41	115060											
GPR61	83873	broad.mit.edu	37	chr1	110086193	110086193	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgttgggaagggtctcCtgggaggaaggagctcccag	17	9	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110086193C>A	uc001dxy.2	+	2	1232	c.549C>A	c.(547-549)TCC>TCA	p.S183S		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	183	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		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)		GAAGGGTCTCCTGGGAGGAAG	0.607													A	110086193	C	A	110086193	2	1	228	1	0	0	0	0	0	0	0	1	6702	668	24	5		5	GPR61	1	110086193	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	52433	110086193	139164428	42	115061											
KCNC4	3749	broad.mit.edu	37	chr1	110765765	110765765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgacctacatcgagggCgtatgtgtgctgtggttcac	12	10	1	1	rs151032487		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110765765C>T	uc001dzh.2	+	2	915	c.858C>T	c.(856-858)GGC>GGT	p.G286G	KCNC4_uc001dzf.2_Silent_p.G286G|KCNC4_uc009wfr.2_Silent_p.G286G|KCNC4_uc001dzg.2_Silent_p.G286G|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	286	Helical; Name=Segment S2; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACATCGAGGGCGTATGTGTGC	0.582													T	110765765	C	T	110765765	2	4	228	1	0	0	0	0	0	0	0	1	8017	755	27	1		1	KCNC4	1	110765765	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	679572	110765765	138484856	43	115062											
RBM15	64783	broad.mit.edu	37	chr1	110882916	110882916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagatcactttcccctggtGgcgctgctttgggatacaga	12	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:110882916G>T	uc001dzl.1	+	1	972	c.889G>T	c.(889-891)GGC>TGC	p.G297C	RBM15_uc001dzm.1_Missense_Mutation_p.G297C|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	297					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)		TTCCCCTGGTGGCGCTGCTTT	0.627			T	MKL1	acute megakaryocytic leukemia								T	110882916	G	T	110882916	3	4	228	1	0	0	0	0	1	0	0	0	13116	1348	47	5	891	5	RBM15	1	110882916	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	117151	110882916	138367705	44	115063											
WNT2B	7482	broad.mit.edu	37	chr1	113052050	113052050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacgctgccggcccgcGtagacacgtcctggtggtaa	14	13	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:113052050G>A	uc001ecb.2	+	1	681	c.166G>A	c.(166-168)GTA>ATA	p.V56I	WNT2B_uc001eca.2_Intron|WNT2B_uc009wgg.2_Intron	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	56					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-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)		GCCGGCCCGCGTAGACACGTC	0.721													A	113052050	G	A	113052050	3	1	228	1	0	0	0	0	1	0	0	0	17384	1145	40	1	301	1	WNT2B	1	113052050	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2169134	113052050	136198571	45	115064											
NOTCH2	4853	broad.mit.edu	37	chr1	120493447	120493447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacattcatcaatattcacCtggcagttatagcctgtaga	7	10	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:120493447C>A	uc001eik.2	-	15	2635	c.2379G>T	c.(2377-2379)CAG>CAT	p.Q793H	NOTCH2_uc001eil.2_Missense_Mutation_p.Q793H|NOTCH2_uc001eim.3_Missense_Mutation_p.Q710H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	793	Extracellular (Potential).|EGF-like 20; 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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		CAATATTCACCTGGCAGTTAT	0.408			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120493447	C	A	120493447	3	1	228	1	0	0	0	0	1	0	0	0	10548	680	24	5	5116	5	NOTCH2	1	120493447	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7441397	120493447	128757174	46	115065											
PDE4DIP	9659	broad.mit.edu	37	chr1	144922001	144922001	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaataaagcactctgaagaTcaagcagagctacctgttgc	9	9	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:144922001T>A	uc001elw.3	-	9	1319	c.1028A>T	c.(1027-1029)GAT>GTT	p.D343V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D409V|PDE4DIP_uc001emc.1_Missense_Mutation_p.D343V|PDE4DIP_uc001emd.1_Missense_Mutation_p.D343V|PDE4DIP_uc001emb.1_Missense_Mutation_p.D506V|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.D130V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	343					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTCTGAAGATCAAGCAGAGC	0.493			T	PDGFRB	MPD								A	144922001	T	A	144922001	3	1	228	1	0	0	0	0	1	0	0	0	11643	1435	50	5	6166	5	PDE4DIP	1	144922001	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	24428554	144922001	104328620	47	115066											
HFE2	148738	broad.mit.edu	37	chr1	145415461	145415461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgcactcggcgcaccGcccgcacctgccgcggggac	13	20	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:145415461G>A	uc001eni.2	+	3	605	c.280G>A	c.(280-282)GCC>ACC	p.A94T	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	94					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCGGCGCACCGCCCGCACCTG	0.692													A	145415461	G	A	145415461	3	1	228	1	0	0	0	0	1	0	0	0	7082	1087	38	1	286	1	HFE2	1	145415461	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	493460	145415461	103835160	48	115067											
ARNT	405	broad.mit.edu	37	chr1	150784509	150784509	+	Frame_Shift_Del	DEL	G	G	-													caatagttctattctgaaaaGgggggaaacatagttagatc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:150784508_150784508AG>A	uc001evr.2	-	21	2560	c.2359_2359CT>T	c.(2359-2361)tttfs	p.F787fs	ARNT_uc010pck.2_Frame_Shift_Del_p.F275fs|ARNT_uc001evs.2_Frame_Shift_Del_p.F772fs|ARNT_uc009wmd.2_Frame_Shift_Del_p.F771fs|ARNT_uc009wmb.2_Frame_Shift_Del_p.F773fs|ARNT_uc009wmc.2_Frame_Shift_Del_p.F785fs	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	787					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)			TATTCTGAAAAGGGGGGAAAC	0.378			T	ETV6	AML								-	150784509	G	-	150784509	7	5	228	1	0	1	0	1	0	0	0	0	965	987	35	0	15	0	ARNT	1	150784509	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	5369048	150784509	98466112	49	115068											
TMOD4	29765	broad.mit.edu	37	chr1	151145996	151145996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatgtcacacatttcagCatctgtggcatgtgccagtg	10	10	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151145996C>T	uc001exc.3	-	4	566	c.376G>A	c.(376-378)GCT>ACT	p.A126T	TMOD4_uc001exb.2_5'Flank|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Intron	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	126					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	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)			CACATTTCAGCATCTGTGGCA	0.547													T	151145996	C	T	151145996	3	4	228	1	0	0	0	0	1	0	0	0	16233	710	25	2	689	2	TMOD4	1	151145996	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	361487	151145996	98104625	50	115069											
RFX5	5993	broad.mit.edu	37	chr1	151318741	151318742	+	Frame_Shift_Ins	INS	-	-	GG													cccagcctcagcaccacctgINSggggggcccttcccccagtc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151318740_151318741T>TGG	uc001exv.1	-	2	270_271	c.56_57A>CCA	c.(55-57)ccafs	p.P19fs	RFX5_uc001exw.1_Frame_Shift_Ins_p.P19fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.P19fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	19						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)			CAGCACCACCTGGGGGGGCCCT	0.554													GG	151318742	-	GG	151318741	7	5	228	1	0	1	1	0	0	0	0	0	13266	1348	47	0	1830	0	RFX5	1	151318741	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	172745	151318741	97931880	51	115070											
TDRKH	11022	broad.mit.edu	37	chr1	151753980	151753980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatattggctccttgccGgccaatgatgagtttcacag	9	9	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151753980G>A	uc009wnb.1	-	3	390	c.208C>T	c.(208-210)CGG>TGG	p.R70W	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.3_Missense_Mutation_p.R70W|TDRKH_uc001ezc.3_Missense_Mutation_p.R70W|TDRKH_uc001eza.3_Missense_Mutation_p.R70W|TDRKH_uc001ezd.3_Missense_Mutation_p.R70W|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a	70	KH 1.						RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCTTGCCGGCCAATGATG	0.463													A	151753980	G	A	151753980	3	1	228	1	0	0	0	0	1	0	0	0	15734	1115	39	1	1521	1	TDRKH	1	151753980	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	435239	151753980	97496641	52	115071											
LINGO4	339398	broad.mit.edu	37	chr1	151774063	151774063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaagtccaggtggcggCggagccggagcagccagagg	18	11	0	1	rs142939659		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:151774063C>T	uc001ezf.1	-	2	1308	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	373	Extracellular (Potential).|LRRCT.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGTGGCGGCGGAGCCGGAG	0.617													T	151774063	C	T	151774063	3	4	228	1	0	0	0	0	1	0	0	0	8817	768	27	1	667	1	LINGO4	1	151774063	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	20083	151774063	97476558	53	115072											
TCHH	7062	broad.mit.edu	37	chr1	152081442	152081442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgctgttcctcctcGcggaattttctgtcgcggtc	10	14	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:152081442G>A	uc001ezp.2	-	2	4251	c.4251C>T	c.(4249-4251)CGC>CGT	p.R1417R	TCHH_uc009wne.1_Silent_p.R1417R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1417	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCTCGCGGAATTTTC	0.587													A	152081442	G	A	152081442	2	1	228	1	0	0	0	0	0	0	0	1	15697	1074	38	1		1	TCHH	1	152081442	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	307379	152081442	97169179	54	115073											
IVL	3713	broad.mit.edu	37	chr1	152882397	152882397	+	Frame_Shift_Del	DEL	C	C	-													aacagccaactccactgcctCccccatgccagaaggtgcct							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:152882396_152882396TC>T	uc021ozl.1	+	0	123	c.123_123TC>T	c.(121-123)cctfs	p.P41fs	IVL_uc001fau.3_Frame_Shift_Del_p.P41fs	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	41					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)			CTCCACTGCCTCCCCCATGCC	0.552													-	152882397	C	-	152882397	7	5	228	1	0	1	0	1	0	0	0	0	7929	855	30	0	126	0	IVL	1	152882397	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	800955	152882397	96368224	55	115074											
RUSC1	23623	broad.mit.edu	37	chr1	155291940	155291940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcagtctacttgcgggacCtccctggtgatgaggatgcc	12	12	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:155291940C>A	uc001fkj.2	+	2	605	c.376C>A	c.(376-378)CTC>ATC	p.L126I	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.L126I|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	126						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	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)			CTTGCGGGACCTCCCTGGTGA	0.647													A	155291940	C	A	155291940	3	1	228	1	0	0	0	0	1	0	0	0	13750	681	24	5	378	5	RUSC1	1	155291940	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2409543	155291940	93958681	56	115075											
YY1AP1	55249	broad.mit.edu	37	chr1	155630355	155630355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtattgggtgaggaatcCggagcaccattttgctcgga	14	8	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:155630355C>T	uc001fln.2	-	11	1508	c.1484G>A	c.(1483-1485)CGG>CAG	p.R495Q	YY1AP1_uc001flg.2_Missense_Mutation_p.R234Q|YY1AP1_uc010pgg.1_Missense_Mutation_p.R334Q|YY1AP1_uc010pgh.1_Missense_Mutation_p.R438Q|YY1AP1_uc010pgi.1_Missense_Mutation_p.R587Q|YY1AP1_uc001flh.2_Missense_Mutation_p.R567Q|YY1AP1_uc009wqt.2_Missense_Mutation_p.R418Q|YY1AP1_uc001flk.2_Missense_Mutation_p.R438Q|YY1AP1_uc001fll.2_Missense_Mutation_p.R449Q|YY1AP1_uc009wqv.2_Missense_Mutation_p.R166Q|YY1AP1_uc001flm.2_Missense_Mutation_p.R438Q|YY1AP1_uc001fli.2_Missense_Mutation_p.R449Q|YY1AP1_uc009wqu.2_Missense_Mutation_p.R282Q|YY1AP1_uc001flj.2_Missense_Mutation_p.R429Q|YY1AP1_uc009wqw.2_Missense_Mutation_p.R418Q|YY1AP1_uc001flo.2_Missense_Mutation_p.R383Q|YY1AP1_uc001flp.2_Missense_Mutation_p.R449Q|YY1AP1_uc010pgj.1_3'UTR	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	495					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTGAGGAATCCGGAGCACCAT	0.552													T	155630355	C	T	155630355	3	4	228	1	0	0	0	0	1	0	0	0	17505	652	23	1	910	1	YY1AP1	1	155630355	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	338415	155630355	93620266	57	115076											
NES	10763	broad.mit.edu	37	chr1	156639679	156639679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctggcccccaccgcccaGcccctggctccctcccctcc	6	27	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:156639679G>T	uc001fpq.2	-	4	4434	c.4301C>A	c.(4300-4302)GCT>GAT	p.A1434D		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1434	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			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACCGCCCAGCCCCTGGctc	0.458													T	156639679	G	T	156639679	3	4	228	1	0	0	0	0	1	0	0	0	10337	971	34	5	568	5	NES	1	156639679	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1009324	156639679	92610942	58	115077											
FCRL3	115352	broad.mit.edu	37	chr1	157660199	157660199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccaaggtgtcatcctcGtgataaaaccagtacaggat	8	11	1	1	rs141302640		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:157660199G>A	uc001frb.2	-	9	1828	c.1536C>T	c.(1534-1536)CAC>CAT	p.H512H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.H512H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.H238H|FCRL3_uc001frc.1_Silent_p.H512H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	512	Ig-like C2-type 6.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGTCATCCTCGTGATAAAACC	0.582													A	157660199	G	A	157660199	2	1	228	1	0	0	0	0	0	0	0	1	5796	1136	40	1		1	FCRL3	1	157660199	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1020520	157660199	91590422	59	115078											
FCRL3	115352	broad.mit.edu	37	chr1	157665355	157665355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccccaccacagtgtggGccctgggagccctgaaggtg	15	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:157665355G>C	uc001frb.2	-	8	1467	c.1175C>G	c.(1174-1176)GCC>GGC	p.A392G	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.A392G|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.A118G|FCRL3_uc001frc.1_Missense_Mutation_p.A392G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	392	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CACAGTGTGGGCCCTGGGAGC	0.572													C	157665355	G	C	157665355	3	2	228	1	0	0	0	0	1	0	0	0	5796	1203	42	5	1061	5	FCRL3	1	157665355	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5156	157665355	91585266	60	115079											
SPTA1	6708	broad.mit.edu	37	chr1	158647573	158647573	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttgccatagtcctcagaGgtgagtacaggttccttctc	9	11	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:158647573G>T	uc001fst.1	-	7	1063	c.864C>A	c.(862-864)ACC>ACA	p.T288T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	288	Spectrin 4.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGTCCTCAGAGGTGAGTACAG	0.463													T	158647573	G	T	158647573	2	4	228	1	0	0	0	0	0	0	0	1	15115	987	35	5		5	SPTA1	1	158647573	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	982218	158647573	90603048	61	115080											
MNDA	4332	broad.mit.edu	37	chr1	158813189	158813189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatcggaagcaagagggaGgattcctgtagctcaggtaa	14	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:158813189G>T	uc001fsz.1	+	3	586	c.386G>T	c.(385-387)AGG>ATG	p.R129M		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	129					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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GCAAGAGGGAGGATTCCTGTA	0.473													T	158813189	G	T	158813189	3	4	228	1	0	0	0	0	1	0	0	0	9676	1000	35	5	392	5	MNDA	1	158813189	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	165616	158813189	90437432	62	115081											
PYHIN1	149628	broad.mit.edu	37	chr1	158914815	158914815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccaacaaccccatccAgcagttccttcaccaaggta	5	17	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:158914815A>G	uc001ftb.2	+	7	1587	c.1342A>G	c.(1342-1344)AGC>GGC	p.S448G	PYHIN1_uc001ftc.2_Missense_Mutation_p.S439G|PYHIN1_uc001ftd.2_Missense_Mutation_p.S448G|PYHIN1_uc001fte.2_Missense_Mutation_p.S439G	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	448					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					AACCCCATCCAGCAGTTCCTT	0.458													G	158914815	A	G	158914815	3	3	228	1	0	0	0	0	1	0	0	0	12865	188	7	3	1364	3	PYHIN1	1	158914815	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	101626	158914815	90335806	63	115082											
IGSF9	57549	broad.mit.edu	37	chr1	159900491	159900491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcttctcaccttccggagCagacaagacgatttcgctga	9	12	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:159900491C>A	uc001fur.2	-	14	2002	c.1804G>T	c.(1804-1806)GCT>TCT	p.A602S	IGSF9_uc001fuq.2_Missense_Mutation_p.A586S|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	602	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCCGGAGCAGACAAGACG	0.607													A	159900491	C	A	159900491	3	1	228	1	0	0	0	0	1	0	0	0	7605	710	25	5	1767	5	IGSF9	1	159900491	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	985676	159900491	89350130	64	115083											
FCGR2A	2212	broad.mit.edu	37	chr1	161487843	161487843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgaaacagctgacggcGgctacatgactctgaacccc	9	13	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:161487843G>A	uc001gan.2	+	7	912	c.859G>A	c.(859-861)GGC>AGC	p.G287S	FCGR2A_uc001gam.2_Missense_Mutation_p.G286S|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	287	Cytoplasmic (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	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)	AGCTGACGGCGGCTACATGAC	0.299													A	161487843	G	A	161487843	3	1	228	1	0	0	0	0	1	0	0	0	5781	1116	39	1	885	1	FCGR2A	1	161487843	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1587352	161487843	87762778	65	115084											
SH2D1B	117157	broad.mit.edu	37	chr1	162372593	162372593	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagacaatatttttaaacCtgtggaaaaaatgactgtgt	8	4	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:162372593C>A	uc001gbz.1	-	2	257	c.135_splice	c.e2-1	p.S45_splice	SH2D1B_uc001gca.1_Splice_Site_p.S45_splice	NM_053282	NP_444512	O14796	SH21B_HUMAN	SH2 domain containing 1B											pancreas(1)	1	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTTTAAACCTGTGGAAAAA	0.343													A	162372593	C	A	162372593	5	1	228	1	0	0	0	0	0	0	1	0	14231	695	24	5	276	5	SH2D1B	1	162372593	Splice_Site	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	884750	162372593	86878028	66	115085											
GPA33	10223	broad.mit.edu	37	chr1	167024308	167024308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatgagggctgcaaccacGcccaccgcgatgcccacata	9	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:167024308G>A	uc001gea.1	-	6	1076	c.732C>T	c.(730-732)GGC>GGT	p.G244G		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	244	Helical; (Potential).					integral to plasma membrane	receptor activity				0						CTGCAACCACGCCCACCGCGA	0.582													A	167024308	G	A	167024308	2	1	228	1	0	0	0	0	0	0	0	1	6586	1074	38	1		1	GPA33	1	167024308	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4651715	167024308	82226313	67	115086											
SLC19A2	10560	broad.mit.edu	37	chr1	169446634	169446634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagagatgacattcaggCtgaacagcgaccagcctgcc	11	11	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:169446634C>T	uc001gge.3	-	2	770	c.566G>A	c.(565-567)AGC>AAC	p.S189N	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	189	Extracellular (Potential).				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				0	all_hematologic(923;0.208)					GACATTCAGGCTGAACAGCGA	0.493													T	169446634	C	T	169446634	3	4	228	1	0	0	0	0	1	0	0	0	14429	797	28	2	947	2	SLC19A2	1	169446634	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2422326	169446634	79803987	68	115087											
BAT2L2	23215	broad.mit.edu	37	chr1	171504578	171504578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagcagaggaggaacccGttttcactagacaagacagc	11	9	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:171504578G>A	uc010pmg.1	+	13	2145	c.1879G>A	c.(1879-1881)GTT>ATT	p.V627I		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	627	Glu-rich.						protein C-terminus binding				0						GGAGGAACCCGTTTTCACTAG	0.423													A	171504578	G	A	171504578	3	1	228	1	0	0	0	0	1	0	0	0	1321	1145	40	1	1925	1	BAT2L2	1	171504578	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2057944	171504578	77746043	69	115088											
PIGC	5279	broad.mit.edu	37	chr1	172411046	172411046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacagtaggcctcccacGgctgaaaatgcaaaaagcag	11	10	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:172411046G>A	uc001gil.2	-	2	998	c.717C>T	c.(715-717)GCC>GCT	p.A239A	PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Silent_p.A239A|PIGC_uc001gio.2_Silent_p.A239A	NM_153747	NP_714969	Q92535	PIGC_HUMAN	phosphatidylinositol glycan, class C	239	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			lung(1)	1						GGCCTCCCACGGCTGAAAATG	0.507													A	172411046	G	A	172411046	2	1	228	1	0	0	0	0	0	0	0	1	11886	1103	39	1		1	PIGC	1	172411046	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	906468	172411046	76839575	70	115089											
CACNA1E	777	broad.mit.edu	37	chr1	181620522	181620522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attggctgtacttcatccccCtcatcatcattggatccttc	5	14	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:181620522C>A	uc001gow.2	+	7	1165	c.1000C>A	c.(1000-1002)CTC>ATC	p.L334I	CACNA1E_uc009wxr.2_Missense_Mutation_p.L241I|CACNA1E_uc009wxs.2_Missense_Mutation_p.L241I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	334	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CTTCATCCCCCTCATCATCAT	0.433													A	181620522	C	A	181620522	3	1	228	1	0	0	0	0	1	0	0	0	2542	681	24	5	1026	5	CACNA1E	1	181620522	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9209476	181620522	67630099	71	115090											
GLUL	2752	broad.mit.edu	37	chr1	182353567	182353567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtactggaagggctcatcGccggtttcattgagaagaca	12	8	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:182353567G>A	uc001gpa.1	-	7	1307	c.1095C>T	c.(1093-1095)GGC>GGT	p.G365G	GLUL_uc010pnt.1_Silent_p.G152G|GLUL_uc001gpb.1_Silent_p.G365G|GLUL_uc001gpc.1_Silent_p.G365G|GLUL_uc001gpd.1_Silent_p.G365G	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	365					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	AGGGCTCATCGCCGGTTTCAT	0.527													A	182353567	G	A	182353567	2	1	228	1	0	0	0	0	0	0	0	1	6478	1074	38	1		1	GLUL	1	182353567	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	733045	182353567	66897054	72	115091											
DHX9	1660	broad.mit.edu	37	chr1	182856560	182856560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagggaagaggaggtggCggctattaaaacttggttat	16	4	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:182856560C>T	uc001gpr.2	+	28	3967	c.3804C>T	c.(3802-3804)GGC>GGT	p.G1268G	DHX9_uc001gps.2_Silent_p.G1054G|DHX9_uc001gpt.2_Silent_p.G547G|DHX9_uc009wyd.2_Silent_p.G233G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1268				FGQGRGGGGY -> LDIEEEVAAIKLGYVSSVCRQ (in Ref. 1; AAB48855).	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			ovary(2)	2						GAGGAGGTGGCGGCTATTAAA	0.493													T	182856560	C	T	182856560	2	4	228	1	0	0	0	0	0	0	0	1	4516	755	27	1		1	DHX9	1	182856560	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	502993	182856560	66394061	73	115092											
HMCN1	83872	broad.mit.edu	37	chr1	186030998	186030998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggcaggatgctacGgctgatgcagaccacaatgg	15	9	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:186030998G>A	uc001grq.1	+	47	7557	c.7328G>A	c.(7327-7329)CGG>CAG	p.R2443Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2443	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGGATGCTACGGCTGATGCAG	0.398													A	186030998	G	A	186030998	3	1	228	1	0	0	0	0	1	0	0	0	7220	1116	39	1	7514	1	HMCN1	1	186030998	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3174438	186030998	63219623	74	115093											
HMCN1	83872	broad.mit.edu	37	chr1	186105833	186105833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcttgagccagtggaaaCtgttattaatgctggtggca	11	8	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:186105833C>T	uc001grq.1	+	87	13575	c.13346C>T	c.(13345-13347)ACT>ATT	p.T4449I	HMCN1_uc001grs.1_Missense_Mutation_p.T18I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4449	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCAGTGGAAACTGTTATTAAT	0.408													T	186105833	C	T	186105833	3	4	228	1	0	0	0	0	1	0	0	0	7220	565	20	4	13692	4	HMCN1	1	186105833	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	74835	186105833	63144788	75	115094											
TPR	7175	broad.mit.edu	37	chr1	186310500	186310500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcatcagttcttcatgctGagccattgtttttgcagtta	7	9	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:186310500G>A	uc001grv.2	-	28	4069	c.3772C>T	c.(3772-3774)CAG>TAG	p.Q1258*		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1258	Potential.				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			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		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)		TCTTCATGCTGAGCCATTGTT	0.348			T	NTRK1	papillary thyroid								A	186310500	G	A	186310500	4	1	228	1	0	0	0	0	0	1	0	0	16413	1299	45	4	3415	4	TPR	1	186310500	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	204667	186310500	62940121	76	115095											
GLRX2	51022	broad.mit.edu	37	chr1	193066820	193066820	+	Frame_Shift_Del	DEL	T	T	-													cattcatgtcatggaaaagcTtttttgccattgtacagtaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:193066819_193066819CT>C	uc001gsz.2	-	2	351	c.255_255AG>G	c.(253-255)aagfs	p.K85fs	GLRX2_uc021pgp.1_Frame_Shift_Del_p.K45fs|GLRX2_uc001gta.2_Frame_Shift_Del_p.K86fs	NM_197962	NP_001230328	Q9NS18	GLRX2_HUMAN	Homo sapiens glutaredoxin 2 (GLRX2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	85	Glutaredoxin.				DNA protection|apoptosis|cell differentiation|cell redox homeostasis|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)	CATGGAAAAGCTTTTTTGCCA	0.333													-	193066820	T	-	193066820	7	5	228	1	0	1	0	1	0	0	0	0	6460	1609	56	0	248	0	GLRX2	1	193066820	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	6756320	193066820	56183801	77	115096											
FAM58B	339521	broad.mit.edu	37	chr1	200183336	200183336	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaggtgcccgccgaggtCgaggctgagaagctgtggtg	19	9	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:200183336C>T	uc009wzi.1	+	1	681	c.645C>T	c.(643-645)GTC>GTT	p.V215V		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	215					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					CCGCCGAGGTCGAGGCTGAGA	0.557													T	200183336	C	T	200183336	2	4	228	1	0	0	0	0	0	0	0	1	5591	871	31	1		1	FAM58B	1	200183336	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7116516	200183336	49067285	78	115097											
PKP1	5317	broad.mit.edu	37	chr1	201286806	201286806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaacctggtgttcaggaGcaccaccaacaagctggaga	12	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:201286806G>T	uc001gwd.2	+	5	1204	c.953G>T	c.(952-954)AGC>ATC	p.S318I	PKP1_uc001gwe.2_Missense_Mutation_p.S318I|PKP1_uc009wzm.2_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	318	ARM 3.				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			ovary(2)	2						GTGTTCAGGAGCACCACCAAC	0.652													T	201286806	G	T	201286806	3	4	228	1	0	0	0	0	1	0	0	0	11984	971	34	5	971	5	PKP1	1	201286806	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1103470	201286806	47963815	79	115098											
LAD1	3898	broad.mit.edu	37	chr1	201351409	201351409	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaggagtcagatttctGtccccactgagtcctctcgg	11	13	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:201351409G>A	uc001gwm.2	-	9	1754	c.1519C>T	c.(1519-1521)CAG>TAG	p.Q507*		NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	507						basement membrane	structural molecule activity				0						TCAGATTTCTGTCCCCACTGA	0.602													A	201351409	G	A	201351409	4	1	228	1	0	0	0	0	0	1	0	0	8599	1386	48	4	42	4	LAD1	1	201351409	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	64603	201351409	47899212	80	115099											
PLEKHA6	22874	broad.mit.edu	37	chr1	204234135	204234135	+	Frame_Shift_Del	DEL	G	G	-													ggctacccggaagctcaggaGggggatgctgcccaggatac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:204234134_204234134AG>A	uc001hau.3	-	5	634	c.317_317CT>T	c.(316-318)ctcfs	p.L106fs		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	106	PH.							p.L106fs*2(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)			GAAGCTCAGGAGGGGGATGCT	0.592													-	204234135	G	-	204234135	7	5	228	1	0	1	0	1	0	0	0	0	12060	1000	35	0	2898	0	PLEKHA6	1	204234135	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	2882726	204234135	45016486	81	115100											
DSTYK	25778	broad.mit.edu	37	chr1	205138544	205138544	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttcagggccttggctgcAtccaccaggcgagtctgtaa	13	11	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:205138544A>G	uc001hbw.2	-	3	1135	c.1071T>C	c.(1069-1071)GAT>GAC	p.D357D	DSTYK_uc001hbx.2_Silent_p.D357D|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	357						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CCTTGGCTGCATCCACCAGGC	0.517													G	205138544	A	G	205138544	2	3	228	1	0	0	0	0	0	0	0	1	4785	214	8	3		3	DSTYK	1	205138544	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	904409	205138544	44112077	82	115101											
PTPN14	5784	broad.mit.edu	37	chr1	214542949	214542949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatccgttcgaaacttcgtgGtgaccttgaacttgccatag	9	10	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:214542949G>C	uc001hkk.1	-	17	3393	c.3122C>G	c.(3121-3123)ACC>AGC	p.T1041S		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	1041	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AAACTTCGTGGTGACCTTGAA	0.478													C	214542949	G	C	214542949	3	2	228	1	0	0	0	0	1	0	0	0	12783	1261	44	5	453	5	PTPN14	1	214542949	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	9404405	214542949	34707672	83	115102											
PTPN14	5784	broad.mit.edu	37	chr1	214638021	214638021	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaggcattcttgcccTgtgctttccaccgacagcgt	9	16	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:214638021T>C	uc001hkk.1	-	2	397	c.126A>G	c.(124-126)ACA>ACG	p.T42T	PTPN14_uc010pty.1_Intron	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	42	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATTCTTGCCCTGTGCTTTCCA	0.587													C	214638021	T	C	214638021	2	2	228	1	0	0	0	0	0	0	0	1	12783	1567	55	3		3	PTPN14	1	214638021	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	95072	214638021	34612600	84	115103											
MARK1	4139	broad.mit.edu	37	chr1	220791774	220791774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaccctatgctgctccCgagcttttccaaggaaagaa	8	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:220791774C>T	uc001hmn.3	+	8	1272	c.675C>T	c.(673-675)CCC>CCT	p.P225P	MARK1_uc009xdw.2_Silent_p.P225P|MARK1_uc010pun.1_Silent_p.P225P|MARK1_uc001hmm.3_Silent_p.P203P	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	225	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		ATGCTGCTCCCGAGCTTTTCC	0.428													T	220791774	C	T	220791774	2	4	228	1	0	0	0	0	0	0	0	1	9312	639	23	1		1	MARK1	1	220791774	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6153753	220791774	28458847	85	115104											
DISP1	84976	broad.mit.edu	37	chr1	223116452	223116452	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgactagccatagcaGtcaccaagagtgccatcccg	8	15	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:223116452G>C	uc001hnu.1	+	2	434	c.287G>C	c.(286-288)AGT>ACT	p.S96T		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	96					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AGCCATAGCAGTCACCAAGAG	0.522													C	223116452	G	C	223116452	3	2	228	1	0	0	0	0	1	0	0	0	4539	1029	36	5	289	5	DISP1	1	223116452	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2324678	223116452	26134169	86	115105											
OBSCN	84033	broad.mit.edu	37	chr1	228404781	228404781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggctgggggcccggcGcagtttgagtgtgagacctc	18	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:228404781G>A	uc009xez.1	+	8	2489	c.2445G>A	c.(2443-2445)GCG>GCA	p.A815A	OBSCN_uc001hsn.2_Silent_p.A815A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	815	Ig-like 8.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGGCCCGGCGCAGTTTGAGT	0.647													A	228404781	G	A	228404781	2	1	228	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228404781	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5288329	228404781	20845840	87	115106											
OBSCN	84033	broad.mit.edu	37	chr1	228476477	228476477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggacagacatagcctgagGcaggacggggctgtgtgcga	19	8	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:228476477G>A	uc009xez.1	+	38	10271	c.10227G>A	c.(10225-10227)AGG>AGA	p.R3409R	OBSCN_uc001hsn.2_Silent_p.R3409R|OBSCN_uc001hsq.1_Silent_p.R665R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3409	Ig-like 34.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ATAGCCTGAGGCAGGACGGGG	0.657													A	228476477	G	A	228476477	2	1	228	1	0	0	0	0	0	0	0	1	10812	1194	42	2		2	OBSCN	1	228476477	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	71696	228476477	20774144	88	115107											
EGLN1	54583	broad.mit.edu	37	chr1	231502214	231502214	+	Frame_Shift_Del	DEL	T	T	-													ttgagttcaaccctcacaccTttttcacctgcaaggtaaaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:231502213_231502213CT>C	uc001huv.2	-	4	4381	c.1225_1225AG>G	c.(1225-1227)ggtfs	p.G409fs	EGLN1_uc001huu.3_Frame_Shift_Del_p.G111fs	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.	409					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	L-ascorbic acid binding|iron ion 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)	ACCCTCACACCTTTTTCACCT	0.393													-	231502214	T	-	231502214	7	5	228	1	0	1	0	1	0	0	0	0	4968	1606	56	0	60	0	EGLN1	1	231502214	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	3025737	231502214	17748407	89	115108											
SIPA1L2	57568	broad.mit.edu	37	chr1	232629283	232629283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccattacctcacttgtcCtgaaagccaccctgtagttg	7	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:232629283C>A	uc001hvg.2	-	2	1765	c.1607G>T	c.(1606-1608)AGG>ATG	p.R536M		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	536					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCACTTGTCCTGAAAGCCAC	0.468													A	232629283	C	A	232629283	3	1	228	1	0	0	0	0	1	0	0	0	14330	681	24	5	3641	5	SIPA1L2	1	232629283	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1127069	232629283	16621338	90	115109											
KIAA1804	84451	broad.mit.edu	37	chr1	233514890	233514891	+	Frame_Shift_Ins	INS	-	-	C													acgaatagtctgagtagatcINScccccagagaaagaaaacgg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:233514889_233514890T>TC	uc001hvt.4	+	8	2398_2399	c.2137_2138T>TC	c.(2137-2139)tccfs	p.S713fs	KIAA1804_uc001hvu.4_Frame_Shift_Ins_p.S159fs	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	713					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TCTGAGTAGATCCCCCCAGAGA	0.54													C	233514891	-	C	233514890	7	5	228	1	0	1	1	0	0	0	0	0	8259	855	30	0	2172	0	KIAA1804	1	233514890	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	885607	233514890	15735731	91	115110											
RBM34	23029	broad.mit.edu	37	chr1	235301432	235301434	+	In_Frame_Del	DEL	CTC	CTC	-													aatgcttgcgtggcagcactCtcctccttaaacacaacata							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:235301431_235301433TCTC>T	uc001hwn.3	-	6	989_991	c.758_760GAGA>A	c.(757-762)gagagt>gAgt	p.S254del	RBM34_uc001hwo.3_Non-coding_Transcript|RBM34_uc001hwp.3_Non-coding_Transcript	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	254	RRM 1.					nucleolus	RNA binding|nucleotide 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)			GTGGCAGCACTCTCCTCCTTAAA	0.32													-	235301434	CTC	-	235301432	7	5	228	1	0	1	0	1	0	0	0	0	13131	912	32	0	553	0	RBM34	1	235301432	In_Frame_Del	DEL	CTC	TCGA-D7-A4YV-01A-11D-A25D-08	1786542	235301432	13949189	92	115111											
HEATR1	55127	broad.mit.edu	37	chr1	236755385	236755385	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttaagtgttcctctaAtacaacatctaatgttctgg	5	9	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:236755385A>T	uc001hyd.1	-	11	1455	c.1330T>A	c.(1330-1332)TTA>ATA	p.L444I		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	444					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTTCCTCTAATACAACATCT	0.318													T	236755385	A	T	236755385	3	4	228	1	0	0	0	0	1	0	0	0	7027	98	4	5	5244	5	HEATR1	1	236755385	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1453953	236755385	12495236	93	115112											
HEATR1	55127	broad.mit.edu	37	chr1	236767430	236767430	+	Splice_Site	DEL	A	A	-													gagttttaatgacacgggctAaaaaaacgtaagcactttga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:236767429_236767429TA>T	uc001hyd.2	-	2	121	c.-31_splice	c.e2-1		HEATR1_uc001hye.2_Splice_Site	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.						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)			TGACACGGGCTAAAAAAACGT	0.473													-	236767430	A	-	236767430	8	5	228	1	0	1	0	1	0	0	1	0	7027	377	13	0		0	HEATR1	1	236767430	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	12045	236767430	12483191	94	115113											
OR1C1	26188	broad.mit.edu	37	chr1	247921546	247921546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtacataggggaatggaGgtgagagtcaaagccaatcg	15	5	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:247921546G>A	uc010pza.1	-	1	163	c.163C>T	c.(163-165)CTC>TTC	p.L55F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			GGGGAATGGAGGTGAGAGTCA	0.473													A	247921546	G	A	247921546	3	1	228	1	0	0	0	0	1	0	0	0	10952	1000	35	4	783	4	OR1C1	1	247921546	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	11154116	247921546	1329075	95	115114											
OR2L2	26246	broad.mit.edu	37	chr1	248202124	248202124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttccagctatgttgacGctagcctgcacagacacttg	10	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr1:248202124G>A	uc001idw.2	+	1	651	c.555G>A	c.(553-555)ACG>ACA	p.T185T	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			CTATGTTGACGCTAGCCTGCA	0.448													A	248202124	G	A	248202124	2	1	228	1	0	0	0	0	0	0	0	1	11007	1074	38	1		1	OR2L2	1	248202124	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	280578	248202124	1048497	96	115115											
ACP1	52	broad.mit.edu	37	chr2	272081	272082	+	Frame_Shift_Ins	INS	-	-	C													ccgggtatgagatagggaacINSccccctgactaccgagggca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:272080_272081A>AC	uc002qwf.3	+	2	257_258	c.161_162A>AC	c.(160-162)aacfs	p.N54fs	ACP1_uc002qwd.2_Frame_Shift_Ins_p.N54fs|ACP1_uc002qwe.4_Intron|ACP1_uc002qwg.3_Intron|ACP1_uc002qwh.3_Intron	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	54						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.G53V(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GAGATAGGGAACCCCCCTGACT	0.53													C	272082	-	C	272081	7	5	228	1	0	1	1	0	0	0	0	0	162	506	18	0	172	0	ACP1	2	272081	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08		272081	242927292	97	115116											
NT5C1B	93034	broad.mit.edu	37	chr2	18766000	18766000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagcggctgcgagtccCgggtctggcggatttcccgc	14	14	1	0	rs150624428		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:18766000C>T	uc002rcz.2	-	5	787	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	NT5C1B_uc002rcy.2_Missense_Mutation_p.R228Q|NT5C1B_uc010exr.2_Missense_Mutation_p.R170Q|NT5C1B_uc010yju.1_Missense_Mutation_p.R168Q|NT5C1B_uc002rda.2_Missense_Mutation_p.R168Q|NT5C1B_uc010yjv.1_Missense_Mutation_p.R245Q|NT5C1B_uc010yjw.1_Missense_Mutation_p.R211Q|NT5C1B_uc010exs.2_Missense_Mutation_p.R230Q|NT5C1B_uc002rdb.1_Missense_Mutation_p.R20Q	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	228					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTGCGAGTCCCGGGTCTGGCG	0.682													T	18766000	C	T	18766000	3	4	228	1	0	0	0	0	1	0	0	0	10686	652	23	1	1173	1	NT5C1B	2	18766000	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	18493919	18766000	224433373	98	115117											
KIF3C	3797	broad.mit.edu	37	chr2	26204561	26204561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcaggggcctcacggtttCgtcatacaggtcggcctgct	12	12	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:26204561C>T	uc002rgu.2	-	1	883	c.226G>A	c.(226-228)GAA>AAA	p.E76K	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.E76K	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	76	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACGGTTTCGTCATACAGG	0.627													T	26204561	C	T	26204561	3	4	228	1	0	0	0	0	1	0	0	0	8302	893	31	1	2187	1	KIF3C	2	26204561	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7438561	26204561	216994812	99	115118											
DPYSL5	56896	broad.mit.edu	37	chr2	27157486	27157486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccactgcacatgccacGctgacaggcttacactacta	6	16	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:27157486G>A	uc002rhu.3	+	8	989	c.831G>A	c.(829-831)ACG>ACA	p.T277T	DPYSL5_uc002rhv.3_Silent_p.T277T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	277					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATGCCACGCTGACAGGCT	0.522													A	27157486	G	A	27157486	2	1	228	1	0	0	0	0	0	0	0	1	4750	1074	38	1		1	DPYSL5	2	27157486	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	952925	27157486	216041887	100	115119											
MPV17	4358	broad.mit.edu	37	chr2	27535564	27535564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgatccaacaacatctTcttcagtgcatccactttgg	5	14	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:27535564T>C	uc002rjr.2	-	3	309	c.262A>G	c.(262-264)AAG>GAG	p.K88E	MPV17_uc002rjq.2_Missense_Mutation_p.K88E|MPV17_uc002rjs.2_Missense_Mutation_p.K88E|MPV17_uc002rjt.2_RNA	NM_002437	NP_002428	P39210	MPV17_HUMAN	Mpv17 protein	88					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAACATCTTCTTCAGTGCA	0.522													C	27535564	T	C	27535564	3	2	228	1	0	0	0	0	1	0	0	0	9745	1792	62	3	288	3	MPV17	2	27535564	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	378078	27535564	215663809	101	115120											
GTF3C2	2976	broad.mit.edu	37	chr2	27565017	27565017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggtttggtggggctgctcAccttggggccctcaggacag	16	11	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:27565017A>G	uc002rjv.1	-	5	1016	c.653T>C	c.(652-654)GTG>GCG	p.V218A	GTF3C2_uc002rju.1_Missense_Mutation_p.V229A|GTF3C2_uc002rjw.1_Missense_Mutation_p.V218A|GTF3C2_uc010eyz.1_Missense_Mutation_p.V218A	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	218						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCTGCTCACCTTGGGGCC	0.587													G	27565017	A	G	27565017	3	3	228	1	0	0	0	0	1	0	0	0	6873	159	6	3	2146	3	GTF3C2	2	27565017	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	29453	27565017	215634356	102	115121											
ALK	238	broad.mit.edu	37	chr2	29416153	29416153	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcctcgtaatgaccagcTccaggggcagtagcggcttc	12	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:29416153T>C	uc002rmy.2	-	29	5707	c.4800A>G	c.(4798-4800)GGA>GGG	p.G1600G	ALK_uc010ymo.1_Silent_p.G532G	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1600	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AATGACCAGCTCCAGGGGCAG	0.542			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				C	29416153	T	C	29416153	2	2	228	1	0	0	0	0	0	0	0	1	525	1538	54	3		3	ALK	2	29416153	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1851136	29416153	213783220	103	115122											
HEATR5B	54497	broad.mit.edu	37	chr2	37297377	37297377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacgtgttacaaacctgcGtaactccaactctcacttca	4	14	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:37297377G>A	uc002rpp.1	-	7	1019	c.923C>T	c.(922-924)ACG>ATG	p.T308M		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	308							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ACAAACCTGCGTAACTCCAAC	0.299													A	37297377	G	A	37297377	3	1	228	1	0	0	0	0	1	0	0	0	7032	1145	40	1	5412	1	HEATR5B	2	37297377	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7881224	37297377	205901996	104	115123											
SLC8A1	6546	broad.mit.edu	37	chr2	40656208	40656208	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagatcttactaacagGgtcattttcagtcacttcag	7	8	5	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:40656208G>T	uc002rrx.2	-	1	1237	c.1213C>A	c.(1213-1215)CCT>ACT	p.P405T	SLC8A1_uc002rry.2_Missense_Mutation_p.P405T|SLC8A1_uc002rrz.2_Missense_Mutation_p.P405T|SLC8A1_uc002rsa.2_Missense_Mutation_p.P405T|SLC8A1_uc002rsd.3_Missense_Mutation_p.P405T|SLC8A1_uc002rsb.1_Missense_Mutation_p.P405T|SLC8A1_uc010fan.1_Missense_Mutation_p.P405T|SLC8A1_uc002rsc.1_Missense_Mutation_p.P405T	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	405	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTACTAACAGGGTCATTTTCA	0.468													T	40656208	G	T	40656208	3	4	228	1	0	0	0	0	1	0	0	0	14706	1232	43	5	1856	5	SLC8A1	2	40656208	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3358831	40656208	202543165	105	115124											
MTA3	57504	broad.mit.edu	37	chr2	42935094	42935094	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccacctaatatgcagtgtaGattatgtgcaatttgttggc	9	8	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:42935094G>A	uc002rso.1	+	14	1701	c.1031G>A	c.(1030-1032)AGA>AAA	p.R344K	MTA3_uc002rsp.1_Missense_Mutation_p.R344K|MTA3_uc002rsq.2_Missense_Mutation_p.R401K|MTA3_uc002rsr.2_Missense_Mutation_p.R400K	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	401	GATA-type; atypical.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						ATGCAGTGTAGATTATGTGCA	0.383													A	42935094	G	A	42935094	3	1	228	1	0	0	0	0	1	0	0	0	9910	942	33	4	1252	4	MTA3	2	42935094	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2278886	42935094	200264279	106	115125											
ZFP36L2	678	broad.mit.edu	37	chr2	43452232	43452232	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcaacgcatcgcgcgtGccaaaggcacgcaggtcccc	13	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:43452232G>C	uc002rsv.3	-	2	1002	c.711C>G	c.(709-711)GGC>GGG	p.G237G	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	237					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CATCGCGCGTGCCAAAGGCAC	0.597													C	43452232	G	C	43452232	2	2	228	1	0	0	0	0	0	0	0	1	17644	1306	46	5		5	ZFP36L2	2	43452232	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	517138	43452232	199747141	107	115126											
ABCG8	64241	broad.mit.edu	37	chr2	44078772	44078772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactggccgaggtcacggCggcaagatcaagtcaggcca	13	12	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:44078772C>T	uc002rtq.2	+	4	462	c.372C>T	c.(370-372)GGC>GGT	p.G124G	ABCG8_uc010yoa.1_Silent_p.G124G	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	124	ABC transporter.|Cytoplasmic (Potential).				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			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAGGTCACGGCGGCAAGATCA	0.617													T	44078772	C	T	44078772	2	4	228	1	0	0	0	0	0	0	0	1	72	755	27	1		1	ABCG8	2	44078772	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	626540	44078772	199120601	108	115127											
FOXN2	3344	broad.mit.edu	37	chr2	48602243	48602243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtgcatccaggtctagCgtgtcttccctgtcttctgt	10	12	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:48602243C>T	uc002rwh.1	+	7	1272	c.957C>T	c.(955-957)AGC>AGT	p.S319S		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	319					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				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGGTCTAGCGTGTCTTCCC	0.438													T	48602243	C	T	48602243	2	4	228	1	0	0	0	0	0	0	0	1	6020	767	27	1		1	FOXN2	2	48602243	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4523471	48602243	194597130	109	115128											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48808508	48808508	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaccaagactcacttAgaagtttgtctatgcactgt	8	9	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:48808508A>C	uc010yol.1	+	1	783	c.736A>C	c.(736-738)AGA>CGA	p.R246R	STON1_uc002rwo.3_Silent_p.R246R|STON1_uc010fbm.2_Silent_p.R246R|STON1-GTF2A1L_uc002rwp.1_Silent_p.R246R|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.R246R	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	246					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACTCACTTAGAAGTTTGTC	0.433													C	48808508	A	C	48808508	2	2	228	1	0	0	0	0	0	0	0	1	15316	412	15	5		5	STON1-GTF2A1L	2	48808508	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	206265	48808508	194390865	110	115129											
NRXN1	9378	broad.mit.edu	37	chr2	51254659	51254659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggctgcagtccttgccGcggaagccggttcgcgagca	14	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:51254659G>A	uc010fbq.2	-	2	2230	c.753C>T	c.(751-753)CGC>CGT	p.R251R	NRXN1_uc002rxe.3_Silent_p.R251R|NRXN1_uc002rxd.1_Silent_p.R251R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGTCCTTGCCGCGGAAGCCGG	0.746													A	51254659	G	A	51254659	2	1	228	1	0	0	0	0	0	0	0	1	10665	1074	38	1		1	NRXN1	2	51254659	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2446151	51254659	191944714	111	115130											
PSME4	23198	broad.mit.edu	37	chr2	54122183	54122183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgccaagcttaggctgCtcttccacaccagcataaac	6	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:54122183C>T	uc002rxp.2	-	34	3929	c.3873G>A	c.(3871-3873)GAG>GAA	p.E1291E	PSME4_uc010yop.1_Silent_p.E1177E|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.E666E|PSME4_uc010fbv.1_Silent_p.E435E	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1291					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			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTTAGGCTGCTCTTCCACAC	0.383													T	54122183	C	T	54122183	2	4	228	1	0	0	0	0	0	0	0	1	12709	796	28	2		2	PSME4	2	54122183	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2867524	54122183	189077190	112	115131											
C2orf63	130162	broad.mit.edu	37	chr2	55436777	55436777	+	Frame_Shift_Del	DEL	T	T	-													cttccataccaaaactgcaaTtttttgttcagattttcagc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:55436776_55436776AT>A	uc002ryi.2	-	5	1037	c.691_691AT>T	c.(691-693)ttgfs	p.L231fs	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Frame_Shift_Del_p.L109fs	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	231							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			CAAAACTGCAATTTTTTGTTC	0.318													-	55436777	T	-	55436777	7	5	228	1	0	1	0	1	0	0	0	0	2182	1490	52	0	1102	0	C2orf63	2	55436777	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	1314594	55436777	187762596	113	115132											
BCL11A	53335	broad.mit.edu	37	chr2	60688530	60688530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccaccctctcgctctccGtcagctcctcctcctcctct	4	22	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:60688530G>A	uc002sae.1	-	4	1745	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	BCL11A_uc002sab.2_Missense_Mutation_p.T506M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.T175M|BCL11A_uc010ypj.1_Missense_Mutation_p.T472M|BCL11A_uc002sad.1_Missense_Mutation_p.T354M|BCL11A_uc002saf.1_Missense_Mutation_p.T472M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	506	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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCGCTCTCCGTCAGctcctc	0.453			T	IGH@	B-CLL								A	60688530	G	A	60688530	3	1	228	1	0	0	0	0	1	0	0	0	1363	1145	40	1	1100	1	BCL11A	2	60688530	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5251753	60688530	182510843	114	115133											
CEP68	23177	broad.mit.edu	37	chr2	65296839	65296839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggccagtgatgccaaCagagagcccgtagctgagag	13	12	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:65296839C>T	uc002sdl.3	+	2	475	c.261C>T	c.(259-261)AAC>AAT	p.N87N	CEP68_uc002sdj.2_Silent_p.N87N|CEP68_uc010yqb.1_Silent_p.N87N|CEP68_uc002sdk.3_Silent_p.N87N|CEP68_uc010yqc.1_Silent_p.N87N|CEP68_uc010yqd.1_Silent_p.N87N	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	87					centrosome organization	centrosome				skin(1)	1						GTGATGCCAACAGAGAGCCCG	0.632													T	65296839	C	T	65296839	2	4	228	1	0	0	0	0	0	0	0	1	3258	477	17	4		4	CEP68	2	65296839	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4608309	65296839	177902534	115	115134											
VAX2	25806	broad.mit.edu	37	chr2	71148374	71148374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtggtgggccgcgagCgcactgagctggcccgccag	17	12	0	1	rs150176075		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:71148374C>T	uc002shh.2	+	2	426	c.394C>T	c.(394-396)CGC>TGC	p.R132C		NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	132	Homeobox.				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCCGCGAGCGCACTGAGCT	0.657													T	71148374	C	T	71148374	3	4	228	1	0	0	0	0	1	0	0	0	17132	768	27	1	400	1	VAX2	2	71148374	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5851535	71148374	172050999	116	115135											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191897	71191897	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcgggaaggacgtgcAggccatgaaggcagtagttg	16	8	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:71191897A>C	uc002shj.2	+	13	1367	c.1280A>C	c.(1279-1281)CAG>CCG	p.Q427P	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.Q410P|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.Q385P	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	427					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			skin(1)	1						AAGGACGTGCAGGCCATGAAG	0.607											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	71191897	A	C	71191897	3	2	228	1	0	0	0	0	1	0	0	0	1178	188	7	5	1330	5	ATP6V1B1	2	71191897	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	43523	71191897	172007476	117	115136											
DYSF	8291	broad.mit.edu	37	chr2	71801492	71801492	+	Frame_Shift_Del	DEL	G	G	-													gcagctgtgtttgcccttgaGggggccctggtatgtggggc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:71801491_71801491AG>A	uc010fen.3	+	29	3533	c.3392_3392AG>A	c.(3391-3393)gagfs	p.E1131fs	DYSF_uc010fei.3_Frame_Shift_Del_p.E1130fs|DYSF_uc010feh.3_Frame_Shift_Del_p.E1099fs|DYSF_uc002sig.4_Frame_Shift_Del_p.E1099fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Del_p.E1144fs|DYSF_uc010fee.3_Frame_Shift_Del_p.E1113fs|DYSF_uc010fef.3_Frame_Shift_Del_p.E1130fs|DYSF_uc002sie.3_Frame_Shift_Del_p.E1113fs|DYSF_uc010feo.3_Frame_Shift_Del_p.E1145fs|DYSF_uc010fej.3_Frame_Shift_Del_p.E1100fs|DYSF_uc010fel.3_Frame_Shift_Del_p.E1100fs|DYSF_uc010fem.3_Frame_Shift_Del_p.E1114fs|DYSF_uc002sif.3_Frame_Shift_Del_p.E1114fs|DYSF_uc010fek.3_Frame_Shift_Del_p.E1131fs|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1113						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						TTTGCCCTTGAGGGGGCCCTG	0.642													-	71801492	G	-	71801492	7	5	228	1	0	1	0	1	0	0	0	0	4859	991	35	0	3649	0	DYSF	2	71801492	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	609595	71801492	171397881	118	115137											
C2orf7	84279	broad.mit.edu	37	chr2	73455925	73455925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaaggagccctcacccGtctcggccgagcaggaagag	15	13	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:73455925G>A	uc002siy.2	-	4	512	c.444C>T	c.(442-444)GAC>GAT	p.D148D		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	chromosome 2 open reading frame 7 precursor	148	PA.					extracellular region					0						GCCCTCACCCGTCTCGGCCGA	0.597													A	73455925	G	A	73455925	2	1	228	1	0	0	0	0	0	0	0	1	2189	1136	40	1		1	C2orf7	2	73455925	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1654433	73455925	169743448	119	115138											
RTKN	6242	broad.mit.edu	37	chr2	74653396	74653396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgactggagccaagtgcGaggttggcctttgctgcaga	16	8	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:74653396G>A	uc002sle.2	-	12	1783	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	RTKN_uc002slc.2_Missense_Mutation_p.R543C|RTKN_uc002sld.2_Missense_Mutation_p.R506C	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	556					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						AGCCAAGTGCGAGGTTGGCCT	0.622													A	74653396	G	A	74653396	3	1	228	1	0	0	0	0	1	0	0	0	13722	1058	37	1	29	1	RTKN	2	74653396	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1197471	74653396	168545977	120	115139											
TACR1	6869	broad.mit.edu	37	chr2	75278554	75278554	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcgaaggtgcacaccacGacaatcatcattttgaccac	8	12	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:75278554G>A	uc002sng.2	-	4	1341	c.756C>T	c.(754-756)GTC>GTT	p.V252V	TACR1_uc002snh.2_Silent_p.V252V	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	252	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGCACACCACGACAATCATCA	0.562													A	75278554	G	A	75278554	2	1	228	1	0	0	0	0	0	0	0	1	15502	1045	37	1		1	TACR1	2	75278554	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	625158	75278554	167920819	121	115140											
RMND5A	64795	broad.mit.edu	37	chr2	86993070	86993070	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgatgcaaaccagtgGgctgatatctgtgacatctt	9	9	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:86993070G>A	uc010ytm.1	+	6	1154	c.777G>A	c.(775-777)TGG>TGA	p.W259*	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Nonsense_Mutation_p.W259*	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	259										ovary(1)|skin(1)	2						CAAACCAGTGGGCTGATATCT	0.483													A	86993070	G	A	86993070	4	1	228	1	0	0	0	0	0	1	0	0	13397	1241	43	4	799	4	RMND5A	2	86993070	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	11714516	86993070	156206303	122	115141											
FER1L5	90342	broad.mit.edu	37	chr2	97366180	97366180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagacccgcacactgtAcagccacagccagccaggca	11	16	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:97366180A>G	uc010fia.2	+	44	5123	c.5123A>G	c.(5122-5124)TAC>TGC	p.Y1708C	FER1L5_uc002sws.3_Missense_Mutation_p.Y426C|FER1L5_uc002swt.3_Missense_Mutation_p.Y426C|FER1L5_uc010yus.1_Missense_Mutation_p.Y425C	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1708						integral to membrane				ovary(1)	1						CGCACACTGTACAGCCACAGC	0.597													G	97366180	A	G	97366180	3	3	228	1	0	0	0	0	1	0	0	0	5814	391	14	3	5297	3	FER1L5	2	97366180	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	10373110	97366180	145833193	123	115142											
FER1L5	90342	broad.mit.edu	37	chr2	97368480	97368480	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtccagagccagaaggTaacaggcctggggcgtgagg	18	8	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:97368480T>C	uc010fia.2	+	47	5505	c.5505_splice	c.e47+2	p.K1835_splice	FER1L5_uc002sws.3_Splice_Site_p.K544_splice|FER1L5_uc002swt.3_Splice_Site_p.K544_splice|FER1L5_uc010yus.1_Splice_Site_p.K543_splice	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2							integral to membrane				ovary(1)	1						AGCCAGAAGGTAACAGGCCTG	0.622													C	97368480	T	C	97368480	5	2	228	1	0	0	0	0	0	0	1	0	5814	1652	57	3	5693	3	FER1L5	2	97368480	Splice_Site	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2300	97368480	145830893	124	115143											
VWA3B	200403	broad.mit.edu	37	chr2	98744813	98744813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacacagtgtccttcaacGccagaggagaaggcactata	9	11	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:98744813G>A	uc002syo.2	+	6	1078	c.814G>A	c.(814-816)GCC>ACC	p.A272T	VWA3B_uc010yvh.1_Missense_Mutation_p.A122T|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.A272T|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	272										ovary(3)|large_intestine(2)|skin(1)	6						GTCCTTCAACGCCAGAGGAGA	0.517													A	98744813	G	A	98744813	3	1	228	1	0	0	0	0	1	0	0	0	17238	1087	38	1	832	1	VWA3B	2	98744813	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1376333	98744813	144454560	125	115144											
AFF3	3899	broad.mit.edu	37	chr2	100170816	100170816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccatctcccagtagtcGtagctgtgcaggatgctgtt	12	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:100170816G>A	uc002tag.2	-	23	3752	c.3516C>T	c.(3514-3516)TAC>TAT	p.Y1172Y	AFF3_uc002taf.2_Silent_p.Y1197Y	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1172					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CCCAGTAGTCGTAGCTGTGCA	0.552													A	100170816	G	A	100170816	2	1	228	1	0	0	0	0	0	0	0	1	358	1140	40	1		1	AFF3	2	100170816	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1426003	100170816	143028557	126	115145											
SLC9A2	6549	broad.mit.edu	37	chr2	103324646	103324646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcagcccagagccaggCgcttcttgccagaacagttc	10	13	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:103324646C>T	uc002tca.2	+	12	2279	c.2137C>T	c.(2137-2139)CGC>TGC	p.R713C		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	713	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CAGAGCCAGGCGCTTCTTGCC	0.527													T	103324646	C	T	103324646	3	4	228	1	0	0	0	0	1	0	0	0	14712	768	27	1	2183	1	SLC9A2	2	103324646	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3153830	103324646	139874727	127	115146											
POU3F3	5455	broad.mit.edu	37	chr2	105472918	105472918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcggacgaggacacgcCgacgtcggacgacctggagc	15	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:105472918C>T	uc010ywg.1	+	1	950	c.950C>T	c.(949-951)CCG>CTG	p.P317L		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	317	POU-specific.				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			ovary(1)	1						GAGGACACGCCGACGTCGGAC	0.627													T	105472918	C	T	105472918	3	4	228	1	0	0	0	0	1	0	0	0	12276	652	23	1	952	1	POU3F3	2	105472918	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2148272	105472918	137726455	128	115147											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459935	107459935	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgcctcctctggacctGtgcagccggaaaagccccct	9	19	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:107459935G>A	uc002tdq.2	-	2	618	c.499C>T	c.(499-501)CAG>TAG	p.Q167*	ST6GAL2_uc002tdr.2_Nonsense_Mutation_p.Q167*|ST6GAL2_uc002tds.3_Nonsense_Mutation_p.Q167*	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	167	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTCTGGACCTGTGCAGCCGGA	0.662													A	107459935	G	A	107459935	4	1	228	1	0	0	0	0	0	1	0	0	15221	1386	48	4	1197	4	ST6GAL2	2	107459935	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1987017	107459935	135739438	129	115148											
SULT1C3	442038	broad.mit.edu	37	chr2	108875249	108875249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcaaaagacatgcacCggatcctctacctcttctac	8	14	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:108875249C>T	uc010ywo.1	+	5	586	c.586C>T	c.(586-588)CGG>TGG	p.R196W		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	196						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AGACATGCACCGGATCCTCTA	0.463													T	108875249	C	T	108875249	3	4	228	1	0	0	0	0	1	0	0	0	15375	643	23	1	604	1	SULT1C3	2	108875249	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1415314	108875249	134324124	130	115149											
C1QL2	165257	broad.mit.edu	37	chr2	119915206	119915206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatgctggtgccgtcgcCgccgcgcatgaggatgtggt	15	13	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:119915206C>T	uc002tlo.2	-	1	1266	c.640G>A	c.(640-642)GGC>AGC	p.G214S		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	214	C1q.					collagen				pancreas(1)	1						GTGCCGTCGCCGCCGCGCATG	0.637										HNSCC(49;0.14)			T	119915206	C	T	119915206	3	4	228	1	0	0	0	0	1	0	0	0	1959	652	23	1	231	1	C1QL2	2	119915206	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	11039957	119915206	123284167	131	115150											
BIN1	274	broad.mit.edu	37	chr2	127828171	127828171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctgccgggccaatcgggCtcatacacctcctgcagaca	9	17	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:127828171C>A	uc002tns.1	-	4	618	c.273G>T	c.(271-273)GAG>GAT	p.E91D	BIN1_uc010yzf.1_Missense_Mutation_p.E67D|BIN1_uc010yzg.1_Missense_Mutation_p.E91D|BIN1_uc002tnu.1_Missense_Mutation_p.E91D|BIN1_uc002toa.1_Missense_Mutation_p.E91D|BIN1_uc002tnt.1_Missense_Mutation_p.E91D|BIN1_uc002tnv.1_Missense_Mutation_p.E91D|BIN1_uc002tnw.1_Missense_Mutation_p.E91D|BIN1_uc002tnx.1_Missense_Mutation_p.E91D|BIN1_uc002tny.1_Missense_Mutation_p.E91D|BIN1_uc002tnz.1_Missense_Mutation_p.E91D|BIN1_uc002tob.1_Missense_Mutation_p.E91D|BIN1_uc002toc.1_Missense_Mutation_p.E91D	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	91	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCAATCGGGCTCATACACCT	0.592													A	127828171	C	A	127828171	3	1	228	1	0	0	0	0	1	0	0	0	1432	796	28	5	1621	5	BIN1	2	127828171	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7912965	127828171	115371202	132	115151											
FAM123C	205147	broad.mit.edu	37	chr2	131520251	131520251	+	Frame_Shift_Del	DEL	C	C	-													cggcgaagcaaagccttcctCcccccgggtgaggggccggg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:131520250_131520250TC>T	uc021voy.1	+	0	605	c.605_605TC>T	c.(604-606)ctcfs	p.L202fs	FAM123C_uc002trw.2_Frame_Shift_Del_p.L202fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.L202fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.L202fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.L202fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.L202fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	202										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AAAGCCTTCCTCCCCCCGGGT	0.687													-	131520251	C	-	131520251	7	5	228	1	0	1	0	1	0	0	0	0	5424	842	30	0	608	0	FAM123C	2	131520251	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	3692080	131520251	111679122	133	115152											
FAM168B	130074	broad.mit.edu	37	chr2	131813195	131813197	+	In_Frame_Del	DEL	GGA	GGA	-													gcagtctggtaggggttcggGgaggaggagtacggtggcac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:131813194_131813196GGGA>G	uc002tsd.3	-	3	456_458	c.227_229TCCC>C	c.(226-231)tccccg>tCcg	p.P77del		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	77										endometrium(3)|lung(2)	5						TAGGGGTTCGGGGAGGAGGAGTA	0.591													-	131813197	GGA	-	131813195	7	5	228	1	0	1	0	1	0	0	0	0	5486	1219	43	0	371	0	FAM168B	2	131813195	In_Frame_Del	DEL	GGA	TCGA-D7-A4YV-01A-11D-A25D-08	292944	131813195	111386178	134	115153											
MGAT5	4249	broad.mit.edu	37	chr2	135099177	135099177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtcctcgttcacctggGactcctgaccaaggaatctg	10	14	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:135099177G>A	uc002ttv.1	+	7	969	c.824G>A	c.(823-825)GGA>GAA	p.G275E		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	275	Lumenal (Potential).				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			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTTCACCTGGGACTCCTGACC	0.433													A	135099177	G	A	135099177	3	1	228	1	0	0	0	0	1	0	0	0	9548	1174	41	4	850	4	MGAT5	2	135099177	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3285982	135099177	108100196	135	115154											
DARS	1615	broad.mit.edu	37	chr2	136670055	136670055	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaaaaccaaattacttaCgggatttcttgggtcaggca	8	8	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:136670055C>T	uc002tux.1	-	13	1414	c.1230_splice	c.e13+1	p.P410_splice	DARS_uc010fnj.1_Splice_Site_p.P310_splice	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase						aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AAATTACTTACGGGATTTCTT	0.299													T	136670055	C	T	136670055	5	4	228	1	0	0	0	0	0	0	1	0	4241	550	19	1	290	1	DARS	2	136670055	Splice_Site	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1570878	136670055	106529318	136	115155											
SPOPL	339745	broad.mit.edu	37	chr2	139316735	139316735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttttttcgtgagaggAcaagaatttaaagctcataa	9	5	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:139316735A>G	uc002tvh.2	+	6	1024	c.624A>G	c.(622-624)GGA>GGG	p.G208G		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	208	BTB.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TCGTGAGAGGACAAGAATTTA	0.333													G	139316735	A	G	139316735	2	3	228	1	0	0	0	0	0	0	0	1	15084	262	10	3		3	SPOPL	2	139316735	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	2646680	139316735	103882638	137	115156											
MBD5	55777	broad.mit.edu	37	chr2	149270475	149270475	+	Frame_Shift_Del	DEL	C	C	-													agggtgacagacaaatgagaCcccccaaacccaagaggagg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:149270474_149270474AC>A	uc002twm.4	+	14	5446	c.4449_4449AC>A	c.(4447-4449)agafs	p.R1483fs	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Frame_Shift_Del_p.R741fs|MBD5_uc002twp.3_Frame_Shift_Del_p.R533fs	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1483						chromosome|nucleus	DNA binding|chromatin 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)		GACAAATGAGACCCCCCAAAC	0.393													-	149270475	C	-	149270475	7	5	228	1	0	1	0	1	0	0	0	0	9347	507	18	0	4488	0	MBD5	2	149270475	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	9953740	149270475	93928898	138	115157											
KCNJ3	3760	broad.mit.edu	37	chr2	155566209	155566210	+	Frame_Shift_Ins	INS	-	-	C													gatcaactttttcttgtgtcINSccccctcacaatttgccacg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:155566208_155566209T>TC	uc002tyv.1	+	1	991_992	c.796_797T>TC	c.(796-798)tccfs	p.S266fs	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Frame_Shift_Ins_p.S266fs	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	266					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)	TTTTCTTGTGTCCCCCCTCACA	0.485													C	155566210	-	C	155566209	7	5	228	1	0	1	1	0	0	0	0	0	8052	855	30	0	803	0	KCNJ3	2	155566209	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	6295734	155566209	87633164	139	115158											
BAZ2B	29994	broad.mit.edu	37	chr2	160206241	160206241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggtgataaagcaaatGgatttaagccaacaggattc	11	5	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:160206241G>A	uc002uao.2	-	28	5193	c.4841C>T	c.(4840-4842)CCA>CTA	p.P1614L	BAZ2B_uc002uap.2_Missense_Mutation_p.P1578L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TAAAGCAAATGGATTTAAGCC	0.433													A	160206241	G	A	160206241	3	1	228	1	0	0	0	0	1	0	0	0	1332	1348	47	4	1705	4	BAZ2B	2	160206241	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4640032	160206241	82993132	140	115159											
FASTKD1	79675	broad.mit.edu	37	chr2	170394546	170394546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatattgttgacagaagCggtcatgaaaccatggaatc	9	6	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:170394546C>T	uc002uev.3	-	11	2439	c.2051G>A	c.(2050-2052)CGC>CAC	p.R684H	FASTKD1_uc002uew.3_Intron|FASTKD1_uc002uex.3_Intron	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	684					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						TTGACAGAAGCGGTCATGAAA	0.348													T	170394546	C	T	170394546	3	4	228	1	0	0	0	0	1	0	0	0	5685	768	27	1	512	1	FASTKD1	2	170394546	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	10188305	170394546	72804827	141	115160											
HOXD10	3236	broad.mit.edu	37	chr2	176982219	176982219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcccaggtggagagccccGaggccaaaggcggccttccc	13	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:176982219G>A	uc002ukj.2	+	1	728	c.658G>A	c.(658-660)GAG>AAG	p.E220K		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	220						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGAGAGCCCCGAGGCCAAAGG	0.622													A	176982219	G	A	176982219	3	1	228	1	0	0	0	0	1	0	0	0	7319	1059	37	1	660	1	HOXD10	2	176982219	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6587673	176982219	66217154	142	115161											
HOXD4	3233	broad.mit.edu	37	chr2	177016724	177016724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccgaccccaagcagccGccctccgggacggcactcaa	10	19	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:177016724G>A	uc002uks.2	+	1	612	c.363G>A	c.(361-363)CCG>CCA	p.P121P		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCAAGCAGCCGCCCTCCGGGA	0.488													A	177016724	G	A	177016724	2	1	228	1	0	0	0	0	0	0	0	1	7324	1074	38	1		1	HOXD4	2	177016724	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	34505	177016724	66182649	143	115162											
TTN	7273	broad.mit.edu	37	chr2	179470216	179470216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattgacagctttgacacGgaactcatacatttggtgtt	8	8	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:179470216G>A	uc010zfg.1	-	228	46326	c.46102C>T	c.(46102-46104)CGT>TGT	p.R15368C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9063C|TTN_uc010zfi.1_Missense_Mutation_p.R8996C|TTN_uc010zfj.1_Missense_Mutation_p.R8871C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16295							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTGACACGGAACTCATAC	0.388													A	179470216	G	A	179470216	3	1	228	1	0	0	0	0	1	0	0	0	16732	1116	39	1	54223	1	TTN	2	179470216	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2453492	179470216	63729157	144	115163											
TTN	7273	broad.mit.edu	37	chr2	179482697	179482697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtctcttaattcaatgAcgtagtttgtgatctcagca	7	8	4	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:179482697A>G	uc010zfg.1	-	202	39901	c.39677T>C	c.(39676-39678)GTC>GCC	p.V13226A	TTN_uc010zfh.1_Missense_Mutation_p.V6921A|TTN_uc010zfi.1_Missense_Mutation_p.V6854A|TTN_uc010zfj.1_Missense_Mutation_p.V6729A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14153							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTCAATGACGTAGTTTGT	0.453													G	179482697	A	G	179482697	3	3	228	1	0	0	0	0	1	0	0	0	16732	275	10	3	60752	3	TTN	2	179482697	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	12481	179482697	63716676	145	115164											
GLS	2744	broad.mit.edu	37	chr2	191818296	191818296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttcttcacaggtaaaGtcagtgataaatcttttgtt	6	6	5	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:191818296G>T	uc002usf.2	+	15	1920	c.1656G>T	c.(1654-1656)AAG>AAT	p.K552N	GLS_uc002ush.2_Missense_Mutation_p.K213N|GLS_uc010zgi.1_Missense_Mutation_p.K123N|GLS_uc010zgj.1_Missense_Mutation_p.K57N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	552					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACAGGTAAAGTCAGTGATAA	0.388													T	191818296	G	T	191818296	3	4	228	1	0	0	0	0	1	0	0	0	6463	1020	36	5	1714	5	GLS	2	191818296	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	12335599	191818296	51381077	146	115165											
GTF3C3	9330	broad.mit.edu	37	chr2	197657712	197657712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtttcacgattgagaaCcatctccaatacaaatacat	5	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:197657712C>T	uc002uts.2	-	3	469	c.379G>A	c.(379-381)GTT>ATT	p.V127I	GTF3C3_uc010zgu.1_Missense_Mutation_p.V127I|GTF3C3_uc002utu.2_Missense_Mutation_p.V127I	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	127						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						CGATTGAGAACCATCTCCAAT	0.264													T	197657712	C	T	197657712	3	4	228	1	0	0	0	0	1	0	0	0	6874	507	18	4	2345	4	GTF3C3	2	197657712	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5839416	197657712	45541661	147	115166											
HSPD1	3329	broad.mit.edu	37	chr2	198353798	198353798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttttcatattcactagtTgtgacatctaactgctcaat	4	10	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:198353798T>C	uc002uui.2	-	9	1280	c.1143A>G	c.(1141-1143)ACA>ACG	p.T381T	HSPD1_uc002uuj.2_Silent_p.T379T|HSPD1_uc010zgx.1_Silent_p.T372T|HSPD1_uc010fsm.2_Silent_p.T192T|HSPD1_uc002uuk.2_Silent_p.T381T	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	381					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			ATTCACTAGTTGTGACATCTA	0.363													C	198353798	T	C	198353798	2	2	228	1	0	0	0	0	0	0	0	1	7428	1799	63	3		3	HSPD1	2	198353798	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	696086	198353798	44845575	148	115167											
NDUFB3	4709	broad.mit.edu	37	chr2	201943745	201943745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaagggatccatggggccGgtaagatgaattaagtaatt	13	5	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:201943745G>A	uc002uwx.3	+	2	463	c.140G>A	c.(139-141)CGC>CAC	p.R47H		NM_002491	NP_002482	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	47					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	CCATGGGGCCGGTAAGATGAA	0.383													A	201943745	G	A	201943745	3	1	228	1	0	0	0	0	1	0	0	0	10282	1130	39	1	142	1	NDUFB3	2	201943745	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3589947	201943745	41255628	149	115168											
CASP8	841	broad.mit.edu	37	chr2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-													cagcctactttcacactaagAaaaaaacttgtcttcccttc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:202151289_202151289GA>G	uc002uxr.1	+	9	1621	c.1412_1412GA>G	c.(1411-1413)agafs	p.R471fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	471					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						TTCACACTAAGAAAAAAACTT	0.398										HNSCC(4;0.00038)			-	202151290	A	-	202151290	7	5	228	1	0	1	0	1	0	0	0	0	2677	243	9	0	1724	0	CASP8	2	202151290	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	207545	202151290	41048083	150	115169											
NOP58	51602	broad.mit.edu	37	chr2	203157521	203157521	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattgaaatctctgaatatCgaacccagctctatgaatat	6	8	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:203157521C>T	uc002uzb.2	+	9	952	c.802C>T	c.(802-804)CGA>TGA	p.R268*	SNORD11_uc002uzd.1_5'Flank	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	268	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0						CTCTGAATATCGAACCCAGCT	0.373													T	203157521	C	T	203157521	4	4	228	1	0	0	0	0	0	1	0	0	10540	876	31	1	836	1	NOP58	2	203157521	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1006231	203157521	40041852	151	115170											
FZD5	7855	broad.mit.edu	37	chr2	208631779	208631779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggtcctgcctgtgagcGcggcgctcgcctcggggtag	17	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:208631779G>A	uc002vcj.2	-	2	2095	c.1685C>T	c.(1684-1686)GCG>GTG	p.A562V		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	562	Cytoplasmic (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCCTGTGAGCGCGGCGCTCGC	0.652													A	208631779	G	A	208631779	3	1	228	1	0	0	0	0	1	0	0	0	6133	1087	38	1	76	1	FZD5	2	208631779	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5474258	208631779	34567594	152	115171											
FZD5	7855	broad.mit.edu	37	chr2	208633129	208633129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgagcagccggccttgGcgcgctcgcacaccgagcgg	17	16	0	0	rs148031109		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:208633129G>T	uc002vcj.2	-	2	745	c.335C>A	c.(334-336)GCC>GAC	p.A112D		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	112	FZ.|Extracellular (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCCGGCCTTGGCGCGCTCGCA	0.706													T	208633129	G	T	208633129	3	4	228	1	0	0	0	0	1	0	0	0	6133	1203	42	5	1426	5	FZD5	2	208633129	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1350	208633129	34566244	153	115172											
PTH2R	5746	broad.mit.edu	37	chr2	209307125	209307125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctatgtaatgtataccGttggctactccatctctttt	6	11	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:209307125G>A	uc002vdb.2	+	5	661	c.448G>A	c.(448-450)GTT>ATT	p.V150I	PTH2R_uc010zjb.1_Missense_Mutation_p.V161I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	150	Helical; Name=1; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AATGTATACCGTTGGCTACTC	0.418													A	209307125	G	A	209307125	3	1	228	1	0	0	0	0	1	0	0	0	12760	1145	40	1	466	1	PTH2R	2	209307125	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	673996	209307125	33892248	154	115173											
ERBB4	2066	broad.mit.edu	37	chr2	213403254	213403254	+	Frame_Shift_Del	DEL	T	T	-													aagtcctgtcgccggcttcaTtttttggaagtctcagatcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:213403253_213403253AT>A	uc002veg.1	-	0	100	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.M1fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1					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)		CGCCGGCTTCATTTTTTGGAA	0.612										TSP Lung(8;0.080)			-	213403254	T	-	213403254	7	5	228	1	0	1	0	1	0	0	0	0	5209	1493	52	0	4037	0	ERBB4	2	213403254	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	4096129	213403254	29796119	155	115174											
ABCA12	26154	broad.mit.edu	37	chr2	215884358	215884358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtacagtaagctggctgCtatttcggtgcccagctctg	12	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:215884358C>T	uc002vew.2	-	12	1670	c.1450G>A	c.(1450-1452)GCA>ACA	p.A484T	ABCA12_uc002vev.2_Missense_Mutation_p.A166T|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	484					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		AAGCTGGCTGCTATTTCGGTG	0.433													T	215884358	C	T	215884358	3	4	228	1	0	0	0	0	1	0	0	0	30	797	28	2	6505	2	ABCA12	2	215884358	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2481104	215884358	27315015	156	115175											
MREG	55686	broad.mit.edu	37	chr2	216811832	216811832	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcatagttgagcttctgcCactcctgcaggaaaataaaa	7	9	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:216811832C>T	uc002vfo.2	-	3	556	c.260G>A	c.(259-261)TGG>TAG	p.W87*	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	87						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GAGCTTCTGCCACTCCTGCAG	0.403													T	216811832	C	T	216811832	4	4	228	1	0	0	0	0	0	1	0	0	9760	595	21	4	396	4	MREG	2	216811832	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	927474	216811832	26387541	157	115176											
ABCB6	10058	broad.mit.edu	37	chr2	220075526	220075526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcttcagtccccgctcGcccacctgtgtcctgtaccc	7	20	2	0	rs145427690		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:220075526G>A	uc002vkc.1	-	16	2440	c.2163C>T	c.(2161-2163)GGC>GGT	p.G721G	ABCB6_uc010fwe.1_Silent_p.G675G	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	721	ABC transporter.				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)	2		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)		GTCCCCGCTCGCCCACCTGTG	0.617													A	220075526	G	A	220075526	2	1	228	1	0	0	0	0	0	0	0	1	45	1074	38	1		1	ABCB6	2	220075526	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3263694	220075526	23123847	158	115177											
GMPPA	29926	broad.mit.edu	37	chr2	220371039	220371039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgggacgctgggcccgcGtggagggtacccccagtgac	17	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:220371039G>A	uc002vlr.2	+	12	1125	c.1057G>A	c.(1057-1059)GTG>ATG	p.V353M	GMPPA_uc002vls.2_Missense_Mutation_p.V353M|GMPPA_uc002vlt.2_Missense_Mutation_p.V406M|GMPPA_uc002vlu.2_Missense_Mutation_p.V406M|GMPPA_uc002vlv.2_Missense_Mutation_p.V353M|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.V353M	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	353					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CTGGGCCCGCGTGGAGGGTAC	0.622													A	220371039	G	A	220371039	3	1	228	1	0	0	0	0	1	0	0	0	6494	1145	40	1	1099	1	GMPPA	2	220371039	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	295513	220371039	22828334	159	115178											
SLC4A3	6508	broad.mit.edu	37	chr2	220505288	220505288	+	Frame_Shift_Del	DEL	A	A	-													ttgctcatcctcatgccggcAaaacaccatcctgagcagcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:220505287_220505287CA>C	uc002vmo.4	+	20	3703	c.3494_3494CA>C	c.(3493-3495)gcafs	p.A1165fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.A1138fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.A688fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1138	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)		CTCATGCCGGCAAAACACCAT	0.587													-	220505288	A	-	220505288	7	5	228	1	0	1	0	1	0	0	0	0	14655	117	5	0	3573	0	SLC4A3	2	220505288	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	134249	220505288	22694085	160	115179											
EPHA4	2043	broad.mit.edu	37	chr2	222429021	222429021	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggtgatccaatcagttcGtagccagttattctggctgg	12	9	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:222429021G>A	uc002vmq.2	-	3	295	c.253C>T	c.(253-255)CGA>TGA	p.R85*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.R85*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R26*|EPHA4_uc010zln.1_Nonsense_Mutation_p.R85*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	85	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		CAATCAGTTCGTAGCCAGTTA	0.473													A	222429021	G	A	222429021	4	1	228	1	0	0	0	0	0	1	0	0	5169	1153	40	1	2767	1	EPHA4	2	222429021	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1923733	222429021	20770352	161	115180											
KIAA1486	57624	broad.mit.edu	37	chr2	226447216	226447216	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacccctctggaggtcacGaagcttcccgtgctggaaaa	10	13	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:226447216G>A	uc002voe.2	+	4	1258	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.T131T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	361	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		TGGAGGTCACGAAGCTTCCCG	0.642													A	226447216	G	A	226447216	2	1	228	1	0	0	0	0	0	0	0	1	8237	1045	37	1		1	KIAA1486	2	226447216	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4018195	226447216	16752157	162	115181											
PSMD1	5707	broad.mit.edu	37	chr2	231931680	231931681	+	Frame_Shift_Ins	INS	-	-	A													gcagatttgcctgaaggagaINSaaaaaaaccaattgaccaga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:231931679_231931680G>GA	uc002vrn.2	+	4	526_527	c.364_365G>GA	c.(364-366)gaafs	p.E122fs	PSMD1_uc002vrm.2_Frame_Shift_Ins_p.E122fs|PSMD1_uc010fxu.2_5'UTR	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	122					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.K124fs*11(1)		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)	GCCTGAAGGAGAAAAAAAACCA	0.366													A	231931681	-	A	231931680	7	5	228	1	0	1	1	0	0	0	0	0	12692	246	9	0	383	0	PSMD1	2	231931680	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	5484464	231931680	11267693	163	115182											
B3GNT7	93010	broad.mit.edu	37	chr2	232263333	232263333	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgtatgcaggcggcggTggcttcctcatggccggcag	16	14	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:232263333T>C	uc002vrs.2	+	2	1083	c.903T>C	c.(901-903)GGT>GGC	p.G301G		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	301	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		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)		CAGGCGGCGGTGGCTTCCTCA	0.652													C	232263333	T	C	232263333	2	2	228	1	0	0	0	0	0	0	0	1	1262	1683	59	3		3	B3GNT7	2	232263333	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	331653	232263333	10936040	164	115183											
ECEL1	9427	broad.mit.edu	37	chr2	233346258	233346258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcatagagacggacgatGcactcagcctttcgcaggaa	11	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:233346258G>A	uc002vsv.2	-	14	2152	c.1947C>T	c.(1945-1947)TGC>TGT	p.C649C	ECEL1_uc010fya.1_Silent_p.C647C|ECEL1_uc010fyb.1_Silent_p.C356C	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	649	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		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)		GACGGACGATGCACTCAGCCT	0.652													A	233346258	G	A	233346258	2	1	228	1	0	0	0	0	0	0	0	1	4891	1311	46	2		2	ECEL1	2	233346258	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1082925	233346258	9853115	165	115184											
TRPM8	79054	broad.mit.edu	37	chr2	234875353	234875353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaactgtctggagctggCggtggaggccacagaccagc	15	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:234875353C>T	uc002vvh.2	+	15	2019	c.1979C>T	c.(1978-1980)GCG>GTG	p.A660V	TRPM8_uc010fyj.2_Missense_Mutation_p.A348V	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	660	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		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)	CTGGAGCTGGCGGTGGAGGCC	0.552													T	234875353	C	T	234875353	3	4	228	1	0	0	0	0	1	0	0	0	16589	768	27	1	2033	1	TRPM8	2	234875353	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1529095	234875353	8324020	166	115185											
COL6A3	1293	broad.mit.edu	37	chr2	238277427	238277427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggaacggatcacctggGcgaacctggacacatcgtcc	12	14	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:238277427G>T	uc002vwl.2	-	10	4964	c.4679C>A	c.(4678-4680)GCC>GAC	p.A1560D	COL6A3_uc002vwo.2_Missense_Mutation_p.A1354D|COL6A3_uc010znj.1_Missense_Mutation_p.A953D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1560	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		GATCACCTGGGCGAACCTGGA	0.572													T	238277427	G	T	238277427	3	4	228	1	0	0	0	0	1	0	0	0	3701	1203	42	5	4994	5	COL6A3	2	238277427	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3402074	238277427	4921946	167	115186											
ILKAP	80895	broad.mit.edu	37	chr2	239079299	239079299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcggacttcccttcccGggtctggatcttttcatcct	10	14	3	0	rs142248095		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:239079299G>A	uc002vxv.2	-	12	1187	c.1057C>T	c.(1057-1059)CGG>TGG	p.R353W	ILKAP_uc010zns.1_Missense_Mutation_p.R285W|ILKAP_uc002vxw.2_Missense_Mutation_p.R233W	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	353	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTCCCTTCCCGGGTCTGGATC	0.587													A	239079299	G	A	239079299	3	1	228	1	0	0	0	0	1	0	0	0	7714	1115	39	1	125	1	ILKAP	2	239079299	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	801872	239079299	4120074	168	115187											
KIF1A	547	broad.mit.edu	37	chr2	241697895	241697895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcggtcgtacatctcccGcatcaggtccagacgctgcc	11	16	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:241697895G>A	uc002vzy.2	-	25	2583	c.2437C>T	c.(2437-2439)CGG>TGG	p.R813W	KIF1A_uc010fzk.2_Missense_Mutation_p.R822W|KIF1A_uc002vzz.1_Missense_Mutation_p.R822W	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	813	Potential.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		TACATCTCCCGCATCAGGTCC	0.647													A	241697895	G	A	241697895	3	1	228	1	0	0	0	0	1	0	0	0	8283	1086	38	1	2727	1	KIF1A	2	241697895	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2618596	241697895	1501478	169	115188											
SNED1	25992	broad.mit.edu	37	chr2	242002305	242002305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcacaggctatgagggCgcccactgtgagctgggtaa	15	10	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr2:242002305C>T	uc002wah.1	+	17	2355	c.2355C>T	c.(2353-2355)GGC>GGT	p.G785G	SNED1_uc002wai.1_5'Flank|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	785	EGF-like 11; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		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)		GCTATGAGGGCGCCCACTGTG	0.657													T	242002305	C	T	242002305	2	4	228	1	0	0	0	0	0	0	0	1	14845	755	27	1		1	SNED1	2	242002305	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	304410	242002305	1197068	170	115189											
ITPR1	3708	broad.mit.edu	37	chr3	4669509	4669509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcagttctggaaagccGctaagcctggggccaacagc	12	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:4669509G>A	uc003bqa.2	+	5	574	c.226G>A	c.(226-228)GCT>ACT	p.A76T	ITPR1_uc010hbz.2_Missense_Mutation_p.A76T|ITPR1_uc010hca.1_Missense_Mutation_p.A76T|ITPR1_uc011asu.1_Missense_Mutation_p.A76T|ITPR1_uc010hcb.1_Missense_Mutation_p.A76T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	76	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGAAAGCCGCTAAGCCTGG	0.522													A	4669509	G	A	4669509	3	1	228	1	0	0	0	0	1	0	0	0	7920	1087	38	1	236	1	ITPR1	3	4669509	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		4669509	193352921	171	115190											
ITPR1	3708	broad.mit.edu	37	chr3	4810245	4810245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtccgggatcagctcctgGaggcctccgctgccaccagg	14	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:4810245G>A	uc003bqa.2	+	43	5980	c.5632G>A	c.(5632-5634)GAG>AAG	p.E1878K	ITPR1_uc010hca.1_Missense_Mutation_p.E1863K|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E848K	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1926	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAGCTCCTGGAGGCCTCCGC	0.587													A	4810245	G	A	4810245	3	1	228	1	0	0	0	0	1	0	0	0	7920	1175	41	4	5950	4	ITPR1	3	4810245	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	140736	4810245	193212185	172	115191											
SETD5	55209	broad.mit.edu	37	chr3	9488801	9488801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagagaaaagaaagaagcGgcgggatcagcccttggaac	13	8	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:9488801G>A	uc003brt.2	+	14	2027	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	SETD5_uc003brs.1_Missense_Mutation_p.R512Q|SETD5_uc003bru.2_Missense_Mutation_p.R433Q|SETD5_uc003brv.2_Missense_Mutation_p.R420Q|SETD5_uc010hck.2_Missense_Mutation_p.R13Q|SETD5_uc003brx.2_Missense_Mutation_p.R200Q	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	531										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGAAAGAAGCGGCGGGATCAG	0.448													A	9488801	G	A	9488801	3	1	228	1	0	0	0	0	1	0	0	0	14134	1116	39	1	1638	1	SETD5	3	9488801	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4678556	9488801	188533629	173	115192											
BRPF1	7862	broad.mit.edu	37	chr3	9780731	9780731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaggaagtagagtatgaCatggacgaggaggactacat	15	5	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:9780731C>T	uc003bse.2	+	3	1047	c.648C>T	c.(646-648)GAC>GAT	p.D216D	BRPF1_uc003bsf.2_Silent_p.D216D|BRPF1_uc003bsg.2_Silent_p.D216D|BRPF1_uc011ati.1_Silent_p.D216D	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	216	Interaction with MYST3 and MYST4.				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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					TAGAGTATGACATGGACGAGG	0.502													T	9780731	C	T	9780731	2	4	228	1	0	0	0	0	0	0	0	1	1520	477	17	4		4	BRPF1	3	9780731	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	291930	9780731	188241699	174	115193											
ATP2B2	491	broad.mit.edu	37	chr3	10370624	10370624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgttgagggatgacggCgggctcgagttctgcttgag	16	7	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:10370624C>T	uc003bvt.2	-	23	4045	c.3606G>A	c.(3604-3606)CCG>CCA	p.P1202P	ATP2B2_uc003bvv.2_Silent_p.P1157P|ATP2B2_uc003bvw.2_Silent_p.P1157P|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Silent_p.P907P|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1202	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGATGACGGCGGGCTCGAGT	0.562													T	10370624	C	T	10370624	2	4	228	1	0	0	0	0	0	0	0	1	1140	755	27	1		1	ATP2B2	3	10370624	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	589893	10370624	187651806	175	115194											
SLC6A1	6529	broad.mit.edu	37	chr3	11070970	11070970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaggctcctccgcaacCgcagagagctcttcattgct	8	17	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:11070970C>T	uc010hdq.2	+	12	1666	c.1255C>T	c.(1255-1257)CGC>TGC	p.R419C		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	419					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCTCCGCAACCGCAGAGAGCT	0.572													T	11070970	C	T	11070970	3	4	228	1	0	0	0	0	1	0	0	0	14673	652	23	1	1293	1	SLC6A1	3	11070970	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	700346	11070970	186951460	176	115195											
FBLN2	2199	broad.mit.edu	37	chr3	13612536	13612536	+	Frame_Shift_Del	DEL	C	C	-													gtccaggcaggcgcagggggCcccccagctgctctgggagg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:13612536delC	uc011avb.1	+	2	806	c.681delC	c.(679-681)GGCfs	p.G227fs	FBLN2_uc011auz.1_Frame_Shift_Del_p.G253fs|FBLN2_uc011ava.1_Frame_Shift_Del_p.G227fs|FBLN2_uc011avc.1_Frame_Shift_Del_p.G227fs	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	227	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCAGGGGGCCCCCCAGCTG	0.701													-	13612536	C	-	13612536	7	5	228	1	0	1	0	1	0	0	0	0	5699	726	26	0		0	FBLN2	3	13612536	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	2541566	13612536	184409894	177	115196											
FBLN2	2199	broad.mit.edu	37	chr3	13613154	13613154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctatccccagaagtagCcctgaaggtaagaccctgtc	8	13	1	3	rs111711686		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:13613154C>T	uc011avb.1	+	2	1424	c.1299C>T	c.(1297-1299)AGC>AGT	p.S433S	FBLN2_uc011auz.1_Silent_p.S459S|FBLN2_uc011ava.1_Silent_p.S433S|FBLN2_uc011avc.1_Silent_p.S433S	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	433	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCAGAAGTAGCCCTGAAGGTA	0.622													T	13613154	C	T	13613154	2	4	228	1	0	0	0	0	0	0	0	1	5699	738	26	2		2	FBLN2	3	13613154	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	618	13613154	184409276	178	115197											
FGD5	152273	broad.mit.edu	37	chr3	14861613	14861613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttccctcacaggaagCccctatgagttcttcccaac	7	15	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:14861613C>T	uc003bzc.2	+	1	1145	c.1035C>T	c.(1033-1035)AGC>AGT	p.S345S	FGD5_uc011avk.1_Silent_p.S345S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	345					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			ovary(3)|kidney(1)|pancreas(1)	5						TCACAGGAAGCCCCTATGAGT	0.517													T	14861613	C	T	14861613	2	4	228	1	0	0	0	0	0	0	0	1	5836	738	26	2		2	FGD5	3	14861613	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1248459	14861613	183160817	179	115198											
CLASP2	23122	broad.mit.edu	37	chr3	33626368	33626368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctcacagtggacagggCtgttgtggtcagaactcttc	13	9	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:33626368C>T	uc003cfu.2	-	22	2467	c.2113G>A	c.(2113-2115)GCC>ACC	p.A705T	CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.A298T	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	706										ovary(3)|central_nervous_system(1)	4						GTGGACAGGGCTGTTGTGGTC	0.483													T	33626368	C	T	33626368	3	4	228	1	0	0	0	0	1	0	0	0	3455	797	28	2	2475	2	CLASP2	3	33626368	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	18764755	33626368	164396062	180	115199											
TRANK1	9881	broad.mit.edu	37	chr3	36874817	36874817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaggatttccaagcccCctggagccaggcccagaatc	12	13	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:36874817C>A	uc003cgj.2	-	12	4777	c.4475G>T	c.(4474-4476)GGG>GTG	p.G1492V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2042					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TTCCAAGCCCCCTGGAGCCAG	0.522													A	36874817	C	A	36874817	3	1	228	1	0	0	0	0	1	0	0	0	16451	623	22	5	2664	5	TRANK1	3	36874817	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3248449	36874817	161147613	181	115200											
CCDC13	152206	broad.mit.edu	37	chr3	42751226	42751226	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgggcacatcggagagctgGgcaaaggatgggtccttctt	15	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:42751226G>T	uc003cly.3	-	15	2022	c.1938C>A	c.(1936-1938)GCC>GCA	p.A646A		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	646										ovary(1)	1						CGGAGAGCTGGGCAAAGGATG	0.597													T	42751226	G	T	42751226	2	4	228	1	0	0	0	0	0	0	0	1	2765	1219	43	5		5	CCDC13	3	42751226	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5876409	42751226	155271204	182	115201											
ZNF197	10168	broad.mit.edu	37	chr3	44684230	44684230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatccactctggggaaaaAccctataaatgtgatgaatg	9	7	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:44684230A>C	uc003cnm.2	+	6	1814	c.1608A>C	c.(1606-1608)AAA>AAC	p.K536N	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	536					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CTGGGGAAAAACCCTATAAAT	0.418													C	44684230	A	C	44684230	3	2	228	1	0	0	0	0	1	0	0	0	17756	40	2	5	1626	5	ZNF197	3	44684230	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1933004	44684230	153338200	183	115202											
PRSS50	29122	broad.mit.edu	37	chr3	46754425	46754425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgggtgtcctccgcaCacatcatctgggacttgatg	11	13	2	1	rs143437619	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:46754425C>T	uc003cqe.1	-	5	946	c.887G>A	c.(886-888)TGT>TAT	p.C296Y	PRSS50_uc003cqf.1_Missense_Mutation_p.C210Y	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	296	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GTCCTCCGCACACATCATCTG	0.498													T	46754425	C	T	46754425	3	4	228	1	0	0	0	0	1	0	0	0	12631	478	17	4	278	4	PRSS50	3	46754425	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2070195	46754425	151268005	184	115203											
PTPN23	25930	broad.mit.edu	37	chr3	47452631	47452631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctgcgccgaggcgccGcagctgcagacctgctctcc	12	18	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:47452631G>A	uc003crf.1	+	20	3439	c.3343G>A	c.(3343-3345)GCA>ACA	p.A1115T	PTPN23_uc011baw.1_Missense_Mutation_p.A1080T|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A985T|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1115	His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGAGGCGCCGCAGCTGCAGA	0.711													A	47452631	G	A	47452631	3	1	228	1	0	0	0	0	1	0	0	0	12788	1087	38	1	3421	1	PTPN23	3	47452631	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	698206	47452631	150569799	185	115204											
BSN	8927	broad.mit.edu	37	chr3	49680381	49680382	+	Frame_Shift_Ins	INS	-	-	A													ctgggggaacaaccagtccaINSaagcatggcagagcagaaca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49680380_49680381C>CA	uc003cxe.4	+	2	1427_1428	c.1313_1314C>CA	c.(1312-1314)ccafs	p.P438fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	438					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)		ACAACCAGTCCAAAGCATGGCA	0.609													A	49680382	-	A	49680381	7	5	228	1	0	1	1	0	0	0	0	0	1530	117	5	0	1324	0	BSN	3	49680381	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	2227750	49680381	148342049	186	115205											
BSN	8927	broad.mit.edu	37	chr3	49688124	49688124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccgacccccctgccgcCgcccacctcacagcagcccc	8	24	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49688124C>T	uc003cxe.3	+	4	1712	c.1598C>T	c.(1597-1599)CCG>CTG	p.P533L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	533					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCTGCCGCCGCCCACCTCA	0.642													T	49688124	C	T	49688124	3	4	228	1	0	0	0	0	1	0	0	0	1530	652	23	1	1612	1	BSN	3	49688124	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7743	49688124	148334306	187	115206											
IP6K1	9807	broad.mit.edu	37	chr3	49764604	49764604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgatgaggttctccAggccaaacacgtagcctctg	11	11	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49764604A>G	uc003cxm.1	-	6	1592	c.1277T>C	c.(1276-1278)CTG>CCG	p.L426P	IP6K1_uc003cxn.1_Missense_Mutation_p.L261P|IP6K1_uc011bcv.1_Missense_Mutation_p.L261P|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	426					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GAGGTTCTCCAGGCCAAACAC	0.587													G	49764604	A	G	49764604	3	3	228	1	0	0	0	0	1	0	0	0	7788	188	7	3	52	3	IP6K1	3	49764604	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	76480	49764604	148257826	188	115207											
C3orf54	389119	broad.mit.edu	37	chr3	49842206	49842206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgacggaggtgggcaccGtgcccgtgctcggccccctc	17	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:49842206G>A	uc003cxq.1	+	2	783	c.650G>A	c.(649-651)CGT>CAT	p.R217H		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	215											0				BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTGGGCACCGTGCCCGTGCT	0.652													A	49842206	G	A	49842206	3	1	228	1	0	0	0	0	1	0	0	0	2233	1145	40	1	656	1	C3orf54	3	49842206	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	77602	49842206	148180224	189	115208											
RAD54L2	23132	broad.mit.edu	37	chr3	51675812	51675812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaggaattccttggaaaacGagaagtaccctgtccacctg	10	11	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:51675812G>A	uc011bdt.1	+	14	2404	c.2279G>A	c.(2278-2280)CGA>CAA	p.R760Q	RAD54L2_uc003dbh.2_Missense_Mutation_p.R351Q|RAD54L2_uc011bdu.1_Missense_Mutation_p.R454Q|RAD54L2_uc003dbj.2_Missense_Mutation_p.R86Q	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	760	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTGGAAAACGAGAAGTACCC	0.483													A	51675812	G	A	51675812	3	1	228	1	0	0	0	0	1	0	0	0	12994	1058	37	1	2329	1	RAD54L2	3	51675812	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1833606	51675812	146346618	190	115209											
TLR9	54106	broad.mit.edu	37	chr3	52255795	52255795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaggcacaggtggaagCagtaccagaggtcccagcca	14	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:52255795C>T	uc003dda.1	-	2	3171	c.2537G>A	c.(2536-2538)TGC>TAC	p.C846Y	TLR9_uc003ddb.2_Missense_Mutation_p.C943Y	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	846	Cytoplasmic (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAGGTGGAAGCAGTACCAGAG	0.647													T	52255795	C	T	52255795	3	4	228	1	0	0	0	0	1	0	0	0	15955	710	25	2	565	2	TLR9	3	52255795	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	579983	52255795	145766635	191	115210											
STAB1	23166	broad.mit.edu	37	chr3	52552802	52552802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctaccacgtggttggctgtCggcggctgcggagcgaggac	18	11	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:52552802C>T	uc003dej.2	+	48	5025	c.4951C>T	c.(4951-4953)CGG>TGG	p.R1651W	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1651	Extracellular (Potential).|FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		GGTTGGCTGTCGGCGGCTGCG	0.657													T	52552802	C	T	52552802	3	4	228	1	0	0	0	0	1	0	0	0	15236	875	31	1	5141	1	STAB1	3	52552802	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	297007	52552802	145469628	192	115211											
IL17RD	54756	broad.mit.edu	37	chr3	57135251	57135251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtaggcgaaacactggaCgacattcatgtgattctggc	12	8	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:57135251C>T	uc003dil.2	-	11	1209	c.1120G>A	c.(1120-1122)GTC>ATC	p.V374I	IL17RD_uc003dik.2_Missense_Mutation_p.V350I|IL17RD_uc010hna.2_Missense_Mutation_p.V230I|IL17RD_uc011bex.1_Missense_Mutation_p.V230I	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	374	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAACACTGGACGACATTCATG	0.537													T	57135251	C	T	57135251	3	4	228	1	0	0	0	0	1	0	0	0	7642	536	19	1	1111	1	IL17RD	3	57135251	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4582449	57135251	140887179	193	115212											
CRYBG3	131544	broad.mit.edu	37	chr3	97595964	97595964	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caatatatgacaagaggagaGagacagattatagtgacaaa	10	4	0	6			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:97595964G>A	uc003drx.2	+	1	146	c.82G>A	c.(82-84)GAG>AAG	p.E28K		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						CAAGAGGAGAGAGACAGATTA	0.388													A	97595964	G	A	97595964	3	1	228	1	0	0	0	0	1	0	0	0	3913	943	33	4	84	4	CRYBG3	3	97595964	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	40460713	97595964	100426466	194	115213											
PLCXD2	257068	broad.mit.edu	37	chr3	111432785	111432785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtaccccttcctgtggCcaggaaagaagattccagcg	11	12	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:111432785C>T	uc003dya.2	+	3	1262	c.676C>T	c.(676-678)CCA>TCA	p.P226S	PLCXD2_uc003dyb.2_Missense_Mutation_p.P226S|PLCXD2_uc003dxz.2_Missense_Mutation_p.P226S	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	226					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(1)	1						CTTCCTGTGGCCAGGAAAGAA	0.483													T	111432785	C	T	111432785	3	4	228	1	0	0	0	0	1	0	0	0	12042	739	26	2	686	2	PLCXD2	3	111432785	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	13836821	111432785	86589645	195	115214											
BOC	91653	broad.mit.edu	37	chr3	112998694	112998694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctacaagtttcgagtcCgggctctgaacatgctgggg	12	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:112998694C>T	uc003dzx.2	+	13	2665	c.2044C>T	c.(2044-2046)CGG>TGG	p.R682W	BOC_uc003dzy.2_Missense_Mutation_p.R682W|BOC_uc003dzz.2_Missense_Mutation_p.R683W|BOC_uc003eab.2_Missense_Mutation_p.R383W|BOC_uc003eac.2_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	682	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GTTTCGAGTCCGGGCTCTGAA	0.627													T	112998694	C	T	112998694	3	4	228	1	0	0	0	0	1	0	0	0	1481	643	23	1	2086	1	BOC	3	112998694	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1565909	112998694	85023736	196	115215											
POPDC2	64091	broad.mit.edu	37	chr3	119379220	119379220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcttccacctaatgcaCgctgaaccctgcaagagaag	8	14	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:119379220C>T	uc003ecx.1	-	1	185	c.51G>A	c.(49-51)GCG>GCA	p.A17A	POPDC2_uc010hqw.1_Silent_p.A17A|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	17						integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)		ACCTAATGCACGCTGAACCCT	0.567													T	119379220	C	T	119379220	2	4	228	1	0	0	0	0	0	0	0	1	12255	523	19	1		1	POPDC2	3	119379220	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6380526	119379220	78643210	197	115216											
NR1I2	8856	broad.mit.edu	37	chr3	119526207	119526207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagatgaggaagtcggagGtccccaaatctgccgtgtat	13	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:119526207G>A	uc003edj.2	+	2	1949	c.110G>A	c.(109-111)GGT>GAT	p.G37D	NR1I2_uc003edi.2_Missense_Mutation_p.G37D|NR1I2_uc003edk.2_Missense_Mutation_p.G76D	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	37					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			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GAAGTCGGAGGTCCCCAAATC	0.502													A	119526207	G	A	119526207	3	1	228	1	0	0	0	0	1	0	0	0	10620	1261	44	4	233	4	NR1I2	3	119526207	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	146987	119526207	78496223	198	115217											
SLC15A2	6565	broad.mit.edu	37	chr3	121658339	121658339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgagttttcttattcTcaggtaagtttttgcaaata	8	5	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:121658339T>C	uc003eep.2	+	20	2058	c.1905T>C	c.(1903-1905)TCT>TCC	p.S635S	SLC15A2_uc011bjn.1_Silent_p.S604S	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	635					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTTCTTATTCTCAGGTAAGTT	0.398													C	121658339	T	C	121658339	2	2	228	1	0	0	0	0	0	0	0	1	14399	1538	54	3		3	SLC15A2	3	121658339	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2132132	121658339	76364091	199	115218											
UMPS	7372	broad.mit.edu	37	chr3	124462820	124462820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattggcaaacgaggttcCgatatcatcattgtaggtcg	11	7	2	0	rs112541424	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:124462820C>T	uc003ehl.3	+	6	1438	c.1332C>T	c.(1330-1332)TCC>TCT	p.S444S	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.S266S|UMPS_uc011bkb.1_Silent_p.S352S|UMPS_uc011bkc.1_Silent_p.S266S|UMPS_uc003ehn.3_Silent_p.S266S|UMPS_uc011bkd.1_Silent_p.S169S	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	444	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			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		AACGAGGTTCCGATATCATCA	0.413													T	124462820	C	T	124462820	2	4	228	1	0	0	0	0	0	0	0	1	16978	639	23	1		1	UMPS	3	124462820	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2804481	124462820	73559610	200	115219											
PLXNA1	5361	broad.mit.edu	37	chr3	126735442	126735442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatcaacatcaaccgcGcccagctcaccaaccctgag	5	18	5	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:126735442G>A	uc003ejg.2	+	15	3032	c.3028G>A	c.(3028-3030)GCC>ACC	p.A1010T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1033	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CATCAACCGCGCCCAGCTCAC	0.637													A	126735442	G	A	126735442	3	1	228	1	0	0	0	0	1	0	0	0	12119	1087	38	1	3155	1	PLXNA1	3	126735442	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2272622	126735442	71286988	201	115220											
KBTBD12	166348	broad.mit.edu	37	chr3	127703079	127703079	+	Frame_Shift_Del	DEL	C	C	-													atgaatccccgagacctcatCcccccgccttcagatttggt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:127703078_127703078TC>T	uc010hsr.3	+	4	1832	c.1829_1829TC>T	c.(1828-1830)atcfs	p.I610fs	KBTBD12_uc003ejy.4_Frame_Shift_Del_p.I217fs|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Frame_Shift_Del_p.I185fs	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	610										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CGAGACCTCATCCCCCCGCCT	0.527													-	127703079	C	-	127703079	7	5	228	1	0	1	0	1	0	0	0	0	7991	845	30	0	1848	0	KBTBD12	3	127703079	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	967637	127703079	70319351	202	115221											
IFT122	55764	broad.mit.edu	37	chr3	129202444	129202444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcaccggcagaagctGcagggctttgtggtcggcta	15	11	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:129202444G>A	uc003emm.2	+	15	1976	c.1770G>A	c.(1768-1770)CTG>CTA	p.L590L	IFT122_uc003eml.2_Silent_p.L641L|IFT122_uc003emn.2_Silent_p.L531L|IFT122_uc003emo.2_Silent_p.L479L|IFT122_uc003emp.2_Silent_p.L440L|IFT122_uc010htc.2_Silent_p.L582L|IFT122_uc011bky.1_Silent_p.L381L|IFT122_uc003emq.2_Silent_p.L430L|IFT122_uc003emr.2_Silent_p.L381L|IFT122_uc011bla.1_Silent_p.L381L|IFT122_uc011bkx.1_Silent_p.L430L|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_Silent_p.L69L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	590					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GGCAGAAGCTGCAGGGCTTTG	0.577													A	129202444	G	A	129202444	2	1	228	1	0	0	0	0	0	0	0	1	7555	1306	46	2		2	IFT122	3	129202444	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1499365	129202444	68819986	203	115222											
COL6A6	131873	broad.mit.edu	37	chr3	130285684	130285684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgctccccataaggtgcGggttggggccgttcagtatg	14	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:130285684G>A	uc010htl.2	+	4	1452	c.1421G>A	c.(1420-1422)CGG>CAG	p.R474Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	474	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CATAAGGTGCGGGTTGGGGCC	0.493													A	130285684	G	A	130285684	3	1	228	1	0	0	0	0	1	0	0	0	3703	1116	39	1	1435	1	COL6A6	3	130285684	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1083240	130285684	67736746	204	115223											
COL6A6	131873	broad.mit.edu	37	chr3	130368359	130368359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgcttgaaatcattcccGtggtgatcactttcagcaac	9	12	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:130368359G>A	uc010htl.2	+	32	5717	c.5686G>A	c.(5686-5688)GTG>ATG	p.V1896M	COL6A6_uc003eni.3_Intron	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1896	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AATCATTCCCGTGGTGATCAC	0.522													A	130368359	G	A	130368359	3	1	228	1	0	0	0	0	1	0	0	0	3703	1145	40	1	5812	1	COL6A6	3	130368359	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	82675	130368359	67654071	205	115224											
EPHB1	2047	broad.mit.edu	37	chr3	134967327	134967327	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaacccggcaagtctcaAgactgtggcaaccatcaccg	10	15	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:134967327A>C	uc003eqt.2	+	14	2886	c.2666A>C	c.(2665-2667)AAG>ACG	p.K889T	EPHB1_uc003equ.2_Missense_Mutation_p.K450T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	889	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GCAAGTCTCAAGACTGTGGCA	0.552													C	134967327	A	C	134967327	3	2	228	1	0	0	0	0	1	0	0	0	5174	72	3	5	2720	5	EPHB1	3	134967327	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	4598968	134967327	63055103	206	115225											
PRR23B	389151	broad.mit.edu	37	chr3	138739117	138739117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacgtcctccctgacagcGcccaggaaaacgtccacttc	8	17	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:138739117G>A	uc003esy.1	-	1	652	c.387C>T	c.(385-387)GGC>GGT	p.G129G		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	129										breast(1)	1						CCCTGACAGCGCCCAGGAAAA	0.647													A	138739117	G	A	138739117	2	1	228	1	0	0	0	0	0	0	0	1	12595	1074	38	1		1	PRR23B	3	138739117	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3771790	138739117	59283313	207	115226											
PAQR9	344838	broad.mit.edu	37	chr3	142681852	142681852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaagggcacgtcgccGccgctcaggaagaacagacg	16	11	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:142681852G>A	uc003evg.2	-	1	327	c.327C>T	c.(325-327)GGC>GGT	p.G109G	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	109	Extracellular (Potential).					integral to membrane	receptor activity				0						GCACGTCGCCGCCGCTCAGGA	0.622													A	142681852	G	A	142681852	2	1	228	1	0	0	0	0	0	0	0	1	11442	1074	38	1		1	PAQR9	3	142681852	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3942735	142681852	55340578	208	115227											
ZIC1	7545	broad.mit.edu	37	chr3	147130449	147130449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctacacgcatcccagttCgctgcgcaaacacatgaagg	9	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:147130449C>T	uc003ewe.2	+	2	1846	c.1127C>T	c.(1126-1128)TCG>TTG	p.S376L		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	376	C2H2-type 5.				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			ovary(1)|central_nervous_system(1)	2						CATCCCAGTTCGCTGCGCAAA	0.592													T	147130449	C	T	147130449	3	4	228	1	0	0	0	0	1	0	0	0	17675	893	31	1	1133	1	ZIC1	3	147130449	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4448597	147130449	50891981	209	115228											
GYG1	2992	broad.mit.edu	37	chr3	148741948	148741948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggcccatgatcccaaCatgactcatccagagtttct	8	12	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:148741948C>T	uc003ewn.2	+	6	770	c.717C>T	c.(715-717)AAC>AAT	p.N239N	GYG1_uc011bnp.1_Missense_Mutation_p.T193I|GYG1_uc003ewo.2_Silent_p.N239N|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	239					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGATCCCAACATGACTCATC	0.433													T	148741948	C	T	148741948	2	4	228	1	0	0	0	0	0	0	0	1	6905	477	17	4		4	GYG1	3	148741948	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1611499	148741948	49280482	210	115229											
SHOX2	6474	broad.mit.edu	37	chr3	157820483	157820483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacctgcactcgggcctccGacaggcccagtcgctggctc	12	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:157820483G>A	uc003fbr.2	-	2	678	c.539C>T	c.(538-540)TCG>TTG	p.S180L	SHOX2_uc003fbs.2_Missense_Mutation_p.S204L|SHOX2_uc010hvw.2_Missense_Mutation_p.S180L	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	180	Homeobox.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCGGGCCTCCGACAGGCCCAG	0.622													A	157820483	G	A	157820483	3	1	228	1	0	0	0	0	1	0	0	0	14289	1059	37	1	472	1	SHOX2	3	157820483	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	9078535	157820483	40201947	211	115230											
BCHE	590	broad.mit.edu	37	chr3	165547357	165547357	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatggatctactcaaaatttCctcggcttttgtgtaattat	6	7	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:165547357C>A	uc003fem.3	-	2	1625	c.1465G>T	c.(1465-1467)GAA>TAA	p.E489*	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	489					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			ovary(3)|pancreas(1)	4					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)	CTCAAAATTTCCTCGGCTTTT	0.398													A	165547357	C	A	165547357	4	1	228	1	0	0	0	0	0	1	0	0	1358	864	30	5	355	5	BCHE	3	165547357	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7726874	165547357	32475073	212	115231											
BCHE	590	broad.mit.edu	37	chr3	165547582	165547582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcacccaaggcctcacGgtagttttcaggtctctgat	8	12	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:165547582G>A	uc003fem.3	-	2	1400	c.1240C>T	c.(1240-1242)CGT>TGT	p.R414C	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	414			R -> C (in BChE deficiency).		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			ovary(3)|pancreas(1)	4					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)	AAGGCCTCACGGTAGTTTTCA	0.403													A	165547582	G	A	165547582	3	1	228	1	0	0	0	0	1	0	0	0	1358	1116	39	1	580	1	BCHE	3	165547582	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	225	165547582	32474848	213	115232											
SPATA16	83893	broad.mit.edu	37	chr3	172834946	172834946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtcctgctgccaaggcGtatttcttttgtctatagca	8	10	2	0	rs146363552		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:172834946G>A	uc003fin.3	-	2	734	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	192					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGCCAAGGCGTATTTCTTTT	0.403													A	172834946	G	A	172834946	2	1	228	1	0	0	0	0	0	0	0	1	15000	1140	40	1		1	SPATA16	3	172834946	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7287364	172834946	25187484	214	115233											
PIK3CA	5290	broad.mit.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	8	9	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:178916936G>A	uc003fjk.2	+	2	480	c.323G>A	c.(322-324)CGT>CAT	p.R108H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	108	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	p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916936	G	A	178916936	3	1	228	1	0	0	0	0	1	0	0	0	11913	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6081990	178916936	19105494	215	115234											
DCUN1D1	54165	broad.mit.edu	37	chr3	182662919	182662919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccagcaatttgagggCgtgcaaattccacaaagtca	9	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:182662919C>T	uc003fld.1	-	7	792	c.743G>A	c.(742-744)CGC>CAC	p.R248H	DCUN1D1_uc011bqn.1_Missense_Mutation_p.R105H	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	248	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AATTTGAGGGCGTGCAAATTC	0.373													T	182662919	C	T	182662919	3	4	228	1	0	0	0	0	1	0	0	0	4313	768	27	1	40	1	DCUN1D1	3	182662919	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3745983	182662919	15359511	216	115235											
LAMP3	27074	broad.mit.edu	37	chr3	182872122	182872122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagtaggttgagaaTaatctctggtttctggaaat	11	6	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:182872122T>C	uc003flh.3	-	2	331	c.107A>G	c.(106-108)TAT>TGT	p.Y36C		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	36	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	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)			AGGTTGAGAATAATCTCTGGT	0.393													C	182872122	T	C	182872122	3	2	228	1	0	0	0	0	1	0	0	0	8619	1406	49	3	1163	3	LAMP3	3	182872122	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	209203	182872122	15150308	217	115236											
KLHL24	54800	broad.mit.edu	37	chr3	183368193	183368193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagaggatcttggggtgCgtgattccccagcaactaag	13	9	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:183368193C>T	uc003flv.2	+	3	344	c.49C>T	c.(49-51)CGT>TGT	p.R17C	KLHL24_uc003flw.2_Missense_Mutation_p.R17C|KLHL24_uc003flx.2_Missense_Mutation_p.R17C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	17						axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TCTTGGGGTGCGTGATTCCCC	0.413													T	183368193	C	T	183368193	3	4	228	1	0	0	0	0	1	0	0	0	8379	768	27	1	51	1	KLHL24	3	183368193	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	496071	183368193	14654237	218	115237											
AP2M1	1173	broad.mit.edu	37	chr3	183898975	183898976	+	Frame_Shift_Ins	INS	-	-	A													aatgacaagattgttattgaINSaaagcagggcaaaggcacag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:183898974_183898975G>GA	uc021xig.1	+	5	710_711	c.667_668G>GA	c.(667-669)gaafs	p.E223fs	AP2M1_uc003fmw.3_Frame_Shift_Ins_p.E221fs|AP2M1_uc021xif.1_Frame_Shift_Ins_p.E39fs|AP2M1_uc011bqy.2_Frame_Shift_Ins_p.E93fs|AP2M1_uc011bqz.2_Frame_Shift_Ins_p.E39fs	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	223	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)			GATTGTTATTGAAAAGCAGGGC	0.554													A	183898976	-	A	183898975	7	5	228	1	0	1	1	0	0	0	0	0	742	246	9	0	687	0	AP2M1	3	183898975	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	530782	183898975	14123455	219	115238											
MUC4	4585	broad.mit.edu	37	chr3	195481223	195481223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcggccgaaggtgcccccGtcacacttgcagccagccac	11	17	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:195481223G>A	uc011bto.1	-	20	15265	c.14805C>T	c.(14803-14805)GAC>GAT	p.D4935D	MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Silent_p.D661D|MUC4_uc003fva.2_Silent_p.D543D|MUC4_uc003fvb.2_Silent_p.D579D|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Silent_p.D579D|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Silent_p.D543D|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Silent_p.D627D|MUC4_uc011bti.1_Silent_p.D627D|MUC4_uc011btj.1_Silent_p.D804D|MUC4_uc011btk.1_Silent_p.D543D|MUC4_uc011btl.1_Silent_p.D572D|MUC4_uc011btm.1_Silent_p.D752D|MUC4_uc011btn.1_Silent_p.D543D|MUC4_uc003fvo.2_Silent_p.D827D|MUC4_uc003fvp.2_Silent_p.D776D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1820					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		AGGTGCCCCCGTCACACTTGC	0.652													A	195481223	G	A	195481223	2	1	228	1	0	0	0	0	0	0	0	1	9978	1136	40	1		1	MUC4	3	195481223	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	11582248	195481223	2541207	220	115239											
TNK2	10188	broad.mit.edu	37	chr3	195595229	195595230	+	Frame_Shift_Ins	INS	-	-	G													cacgtcgtcataggcgggcgINSgggggggcagcgggcgtgcg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:195595228_195595229C>CG	uc003fvu.1	-	11	2438_2439	c.1895_1896G>CG	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			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)	CATAGGCGGGCGGGGGGGGCAG	0.728													G	195595230	-	G	195595229	7	5	228	1	0	1	1	0	0	0	0	0	16315	1116	39	0	1237	0	TNK2	3	195595229	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	114006	195595229	2427201	221	115240											
MFI2	4241	broad.mit.edu	37	chr3	196743090	196743090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagcagacccttcatggCgtgcaggtactcatggccca	11	13	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:196743090C>T	uc003fxk.3	-	8	1164	c.1051G>A	c.(1051-1053)GCC>ACC	p.A351T		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	351	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		CCCTTCATGGCGTGCAGGTAC	0.602													T	196743090	C	T	196743090	3	4	228	1	0	0	0	0	1	0	0	0	9522	768	27	1	1201	1	MFI2	3	196743090	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1147861	196743090	1279340	222	115241											
BDH1	622	broad.mit.edu	37	chr3	197239128	197239128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggggtacatctcatAgcgcaggcagtccgagaaag	14	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr3:197239128A>G	uc003fxr.2	-	8	1072	c.670T>C	c.(670-672)TAT>CAT	p.Y224H	BDH1_uc003fxs.2_Missense_Mutation_p.Y224H|BDH1_uc003fxt.2_Missense_Mutation_p.Y137H|BDH1_uc003fxu.2_Missense_Mutation_p.Y224H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	224					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TACATCTCATAGCGCAGGCAG	0.622													G	197239128	A	G	197239128	3	3	228	1	0	0	0	0	1	0	0	0	1390	420	15	3	365	3	BDH1	3	197239128	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	496038	197239128	783302	223	115242											
GAK	2580	broad.mit.edu	37	chr4	860170	860170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaggtgcaggaagtcggCgctgcaggatgggggcggag	20	9	0	0	rs140672161		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:860170C>T	uc003gbm.3	-	22	3224	c.3025G>A	c.(3025-3027)GCC>ACC	p.A1009T	GAK_uc003gbn.3_Missense_Mutation_p.A930T|GAK_uc010ibi.2_Missense_Mutation_p.A190T|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.A862T	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1009					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		AGGAAGTCGGCGCTGCAGGAT	0.627													T	860170	C	T	860170	3	4	228	1	0	0	0	0	1	0	0	0	6195	768	27	1	938	1	GAK	4	860170	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		860170	190294106	224	115243											
EVC2	132884	broad.mit.edu	37	chr4	5624401	5624401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccccctccagctgctcGgcccgtgcagccatctcctt	7	21	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:5624401G>A	uc003gij.2	-	14	2418	c.2364C>T	c.(2362-2364)GCC>GCT	p.A788A	EVC2_uc011bwb.1_Silent_p.A228A|EVC2_uc003gik.2_Silent_p.A708A	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	788	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						CCAGCTGCTCGGCCCGTGCAG	0.647													A	5624401	G	A	5624401	2	1	228	1	0	0	0	0	0	0	0	1	5286	1103	39	1		1	EVC2	4	5624401	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4764231	5624401	185529875	225	115244											
EVC	2121	broad.mit.edu	37	chr4	5733348	5733348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcagccgcaccttcctccGggtgaacgccttccctgaag	9	17	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:5733348G>T	uc003gil.1	+	4	765	c.581G>T	c.(580-582)CGG>CTG	p.R194L	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	194					muscle organ development	integral to membrane		p.R194R(1)		ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				ACCTTCCTCCGGGTGAACGCC	0.627													T	5733348	G	T	5733348	3	4	228	1	0	0	0	0	1	0	0	0	5285	1116	39	5	595	5	EVC	4	5733348	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	108947	5733348	185420928	226	115245											
WFS1	7466	broad.mit.edu	37	chr4	6303575	6303575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggagaccaacatggcgCgcacccagatcctctgcagc	12	14	1	2	rs112967046		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:6303575C>T	uc003giy.2	+	8	2219	c.2053C>T	c.(2053-2055)CGC>TGC	p.R685C	WFS1_uc003gix.2_Missense_Mutation_p.R685C|WFS1_uc003giz.2_Missense_Mutation_p.R503C	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	685					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)	2				Colorectal(103;0.0512)		CAACATGGCGCGCACCCAGAT	0.637													T	6303575	C	T	6303575	3	4	228	1	0	0	0	0	1	0	0	0	17357	768	27	1	2079	1	WFS1	4	6303575	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	570227	6303575	184850701	227	115246											
CCDC96	257236	broad.mit.edu	37	chr4	7044597	7044597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgatcttggacggccgCgcggccaggctttccccgtc	13	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:7044597C>T	uc003gjv.2	-	1	132	c.69G>A	c.(67-69)GCG>GCA	p.A23A	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	23											0						TGGACGGCCGCGCGGCCAGGC	0.706													T	7044597	C	T	7044597	2	4	228	1	0	0	0	0	0	0	0	1	2874	755	27	1		1	CCDC96	4	7044597	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	741022	7044597	184109679	228	115247											
SORCS2	57537	broad.mit.edu	37	chr4	7728548	7728548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgacaacgcggttttcGgacacgggcgacgtgcgtgt	15	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:7728548G>A	uc003gkb.3	+	21	2787	c.2787G>A	c.(2785-2787)TCG>TCA	p.S929S	SORCS2_uc011bwi.1_Silent_p.S757S	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	929	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						CGCGGTTTTCGGACACGGGCG	0.657													A	7728548	G	A	7728548	2	1	228	1	0	0	0	0	0	0	0	1	14931	1103	39	1		1	SORCS2	4	7728548	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	683951	7728548	183425728	229	115248											
BOD1L	259282	broad.mit.edu	37	chr4	13600885	13600885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaaaggaatgctcagCcacggtcccttgaacaggtg	13	9	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:13600885C>T	uc003gmz.1	-	10	7756	c.7639G>A	c.(7639-7641)GCT>ACT	p.A2547T	BOD1L_uc010idr.1_Missense_Mutation_p.A1884T	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2547							DNA binding			ovary(5)|breast(1)	6						GAATGCTCAGCCACGGTCCCT	0.488											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	13600885	C	T	13600885	3	4	228	1	0	0	0	0	1	0	0	0	1483	739	26	2	1584	2	BOD1L	4	13600885	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5872337	13600885	177553391	230	115249											
KLF3	51274	broad.mit.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-													ccttcttccagcccaccgatAaaaaaatactcacccccttc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:38690460delA	uc003gth.3	+	3	644	c.312delA	c.(310-312)ATAfs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						GCCCACCGATAAAAAAATACT	0.617													-	38690460	A	-	38690460	7	5	228	1	0	1	0	1	0	0	0	0	8347	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	25089575	38690460	152463816	231	115250											
KLF3	51274	broad.mit.edu	37	chr4	38691476	38691477	+	Frame_Shift_Ins	INS	-	-	C													cccttaatgaactcagtgtcINSccccccgcaagcattgttgc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:38691475_38691476T>TC	uc003gth.4	+	3	1002_1003	c.670_671T>TC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Ins_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	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						GAACTCAGTGTCCCCCCCGCAA	0.426													C	38691477	-	C	38691476	7	5	228	1	0	1	1	0	0	0	0	0	8347	855	30	0	681	0	KLF3	4	38691476	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	1016	38691476	152462800	232	115251											
WDR19	57728	broad.mit.edu	37	chr4	39188158	39188158	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttatgttctgattgctttcaGagctgattatattgtgaaaa	8	4	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:39188158G>T	uc003gtv.2	+	3	253	c.99_splice	c.e3-1	p.G33_splice	WDR19_uc010ifl.1_Splice_Site|WDR19_uc003gtu.1_Splice_Site_p.G33_splice|WDR19_uc011byi.1_Splice_Site	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19						cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATTGCTTTCAGAGCTGATTAT	0.209													T	39188158	G	T	39188158	5	4	228	1	0	0	0	0	0	0	1	0	17276	956	33	5	108	5	WDR19	4	39188158	Splice_Site	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	496682	39188158	151966118	233	115252											
CORIN	10699	broad.mit.edu	37	chr4	47788851	47788851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctggttataaattgtAtttgtaagaataacatcgga	9	4	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:47788851A>G	uc003gxm.2	-	3	393	c.300T>C	c.(298-300)AAT>AAC	p.N100N	CORIN_uc011bzf.1_5'UTR|CORIN_uc011bzg.1_Intron|CORIN_uc011bzh.1_Silent_p.N100N|CORIN_uc011bzi.1_Silent_p.N100N|CORIN_uc003gxn.3_Silent_p.N100N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	100	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2						TATAAATTGTATTTGTAAGAA	0.443													G	47788851	A	G	47788851	2	3	228	1	0	0	0	0	0	0	0	1	3752	446	16	3		3	CORIN	4	47788851	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	8600693	47788851	143365425	234	115253											
AASDH	132949	broad.mit.edu	37	chr4	57220355	57220355	+	Frame_Shift_Del	DEL	A	A	-													actgtcacttcatcatcaagAaaacacactctgtttctgcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:57220354_57220354GA>G	uc003hbn.3	-	7	1387	c.1234_1234TC>C	c.(1234-1236)cttfs	p.L412fs	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Frame_Shift_Del_p.L312fs|AASDH_uc011caa.2_Frame_Shift_Del_p.L259fs|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Frame_Shift_Del_p.L412fs|AASDH_uc003hbp.3_Frame_Shift_Del_p.L412fs	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	412					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|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)				TCATCATCAAGAAAACACACT	0.373													-	57220355	A	-	57220355	7	5	228	1	0	1	0	1	0	0	0	0	22	243	9	0	2095	0	AASDH	4	57220355	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	9431504	57220355	133933921	235	115254											
EPHA5	2044	broad.mit.edu	37	chr4	66189849	66189849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttacaatggcaccattcCgtttaccagctgcaccttca	6	13	1	0	rs139793674		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:66189849C>T	uc003hcy.2	-	18	3290	c.3097G>A	c.(3097-3099)GGA>AGA	p.G1033R	EPHA5_uc003hcx.2_Missense_Mutation_p.G965R|EPHA5_uc003hcz.2_Missense_Mutation_p.G1011R|EPHA5_uc011cah.1_Missense_Mutation_p.G1034R|EPHA5_uc011cai.1_Missense_Mutation_p.G1012R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1033	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGCACCATTCCGTTTACCAGC	0.418										TSP Lung(17;0.13)			T	66189849	C	T	66189849	3	4	228	1	0	0	0	0	1	0	0	0	5170	661	23	1	20	1	EPHA5	4	66189849	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	8969494	66189849	124964427	236	115255											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68688175	68688175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccccacaataaaccaaagCcgccgtgagtcttcttgtac	6	14	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:68688175C>T	uc003hdq.2	-	10	1202	c.1137G>A	c.(1135-1137)CGG>CGA	p.R379R	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Silent_p.R160R|TMPRSS11D_uc011caj.1_Silent_p.R262R	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	379	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TAAACCAAAGCCGCCGTGAGT	0.463													T	68688175	C	T	68688175	2	4	228	1	0	0	0	0	0	0	0	1	16238	726	26	2		2	TMPRSS11D	4	68688175	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2498326	68688175	122466101	237	115256											
SMR3A	26952	broad.mit.edu	37	chr4	71232500	71232500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccagggagatttccacCacccctttctccaccctatg	7	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:71232500C>A	uc003hfg.1	+	3	275	c.194C>A	c.(193-195)CCA>CAA	p.P65Q	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	65	Pro-rich.					extracellular region					0		all_hematologic(202;0.196)				AGATTTCCACCACCCCTTTCT	0.547													A	71232500	C	A	71232500	3	1	228	1	0	0	0	0	1	0	0	0	14811	594	21	5	200	5	SMR3A	4	71232500	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2544325	71232500	119921776	238	115257											
GK2	2712	broad.mit.edu	37	chr4	80328918	80328918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgcactgaagtaagtgCtgagtggaaggcctgtctta	12	7	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:80328918C>T	uc003hlu.2	-	1	455	c.437G>A	c.(436-438)AGC>AAC	p.S146N		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	146					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						GAAGTAAGTGCTGAGTGGAAG	0.413													T	80328918	C	T	80328918	3	4	228	1	0	0	0	0	1	0	0	0	6421	797	28	2	1228	2	GK2	4	80328918	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9096418	80328918	110825358	239	115258											
WDFY3	23001	broad.mit.edu	37	chr4	85676453	85676453	+	Frame_Shift_Del	DEL	A	A	-													tgcggagcattcccaataatAaaaaaacagcttctgtgcat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:85676452_85676452TA>T	uc003hpd.3	-	33	5934	c.5526_5526TA>A	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						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)		TTCCCAATAATAAAAAAACAG	0.423													-	85676453	A	-	85676453	7	5	228	1	0	1	0	1	0	0	0	0	17267	372	13	0	5195	0	WDFY3	4	85676453	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	5347535	85676453	105477823	240	115259											
WDFY3	23001	broad.mit.edu	37	chr4	85741342	85741342	+	Splice_Site	DEL	A	A	-													tattatttcttgagtcccctAaaaaaaggttcaaaggtcca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:85741341_85741341TA>T	uc003hpd.3	-	12	2000	c.1592_splice	c.e12-1	p.G531_splice	WDFY3_uc003hpf.3_Splice_Site_p.G531_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	531						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)		TTGAGTCCCCTAAAAAAAGGT	0.323													-	85741342	A	-	85741342	8	5	228	1	0	1	0	1	0	0	1	0	17267	377	13	0		0	WDFY3	4	85741342	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	64889	85741342	105412934	241	115260											
FAM13A	10144	broad.mit.edu	37	chr4	89859380	89859380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttccttcatgccttcaagCccaggtggcacactagaaac	8	13	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:89859380C>T	uc003hse.1	-	5	826	c.618G>A	c.(616-618)GGG>GGA	p.G206G	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_Silent_p.G20G	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	206	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TGCCTTCAAGCCCAGGTGGCA	0.393													T	89859380	C	T	89859380	2	4	228	1	0	0	0	0	0	0	0	1	5452	726	26	2		2	FAM13A	4	89859380	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4118038	89859380	101294896	242	115261											
UNC5C	8633	broad.mit.edu	37	chr4	96140425	96140425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggtcctctgtacatgGctgcagctgacgtgaggtct	13	10	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:96140425G>A	uc003htp.1	-	9	1494	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V	UNC5C_uc010ilc.1_Missense_Mutation_p.A466V|UNC5C_uc003htq.2_Missense_Mutation_p.A466V	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	447	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGTACATGGCTGCAGCTGA	0.483													A	96140425	G	A	96140425	3	1	228	1	0	0	0	0	1	0	0	0	16990	1203	42	2	1487	2	UNC5C	4	96140425	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6281045	96140425	95013851	243	115262											
RG9MTD2	93587	broad.mit.edu	37	chr4	100479244	100479244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaactacagtcaataaTaaggcgaagggtgctatgaa	9	6	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:100479244T>C	uc003huy.2	-	3	623	c.310A>G	c.(310-312)ATT>GTT	p.I104V	RG9MTD2_uc003huz.3_Missense_Mutation_p.I104V|RG9MTD2_uc003hva.3_Missense_Mutation_p.I104V	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	104							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		CAGTCAATAATAAGGCGAAGG	0.348													C	100479244	T	C	100479244	3	2	228	1	0	0	0	0	1	0	0	0	13272	1406	49	3	733	3	RG9MTD2	4	100479244	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	4338819	100479244	90675032	244	115263											
DNAJB14	79982	broad.mit.edu	37	chr4	100824939	100824939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtcacataatcttcctccAcactcttttctaccttttgt	2	13	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:100824939A>G	uc003hvl.2	-	7	1110	c.959T>C	c.(958-960)GTG>GCG	p.V320A	DNAJB14_uc003hvk.2_Missense_Mutation_p.V235A|DNAJB14_uc010ili.2_Missense_Mutation_p.V253A	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	320					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		ATCTTCCTCCACACTCTTTTC	0.299													G	100824939	A	G	100824939	3	3	228	1	0	0	0	0	1	0	0	0	4619	159	6	3	188	3	DNAJB14	4	100824939	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	345695	100824939	90329337	245	115264											
DKK2	27123	broad.mit.edu	37	chr4	107846975	107846975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattattgcagcgggtactGgggcagcacatgccatctcg	12	12	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:107846975G>T	uc003hyi.2	-	2	1059	c.354C>A	c.(352-354)CCC>CCA	p.P118P	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.P118P	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	118	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGCGGGTACTGGGGCAGCACA	0.502													T	107846975	G	T	107846975	2	4	228	1	0	0	0	0	0	0	0	1	4545	1335	47	5		5	DKK2	4	107846975	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7022036	107846975	83307301	246	115265											
ALPK1	80216	broad.mit.edu	37	chr4	113350368	113350368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgcaagctggcagctGccttcagtgcctatacgccg	11	14	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:113350368G>A	uc003iap.3	+	10	1138	c.859G>A	c.(859-861)GCC>ACC	p.A287T	ALPK1_uc003ian.3_Missense_Mutation_p.A287T|ALPK1_uc011cfx.1_Missense_Mutation_p.A209T|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.A115T	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	287							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCTGGCAGCTGCCTTCAGTGC	0.552													A	113350368	G	A	113350368	3	1	228	1	0	0	0	0	1	0	0	0	544	1319	46	2	889	2	ALPK1	4	113350368	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5503393	113350368	77803908	247	115266											
ANK2	287	broad.mit.edu	37	chr4	114267082	114267082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatacgactcaggaaccttgCggacgactatcatttatgaa	9	9	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:114267082C>T	uc003ibe.3	+	35	4375	c.4275C>T	c.(4273-4275)TGC>TGT	p.C1425C	ANK2_uc003ibd.3_Silent_p.C1416C|ANK2_uc003ibf.3_Silent_p.C1425C|ANK2_uc011cgc.1_Silent_p.C601C|ANK2_uc003ibg.3_Silent_p.C420C|ANK2_uc003ibh.3_Silent_p.C99C|ANK2_uc011cgb.1_Silent_p.C1440C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1392					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGAACCTTGCGGACGACTAT	0.403													T	114267082	C	T	114267082	2	4	228	1	0	0	0	0	0	0	0	1	621	776	27	1		1	ANK2	4	114267082	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	916714	114267082	76887194	248	115267											
ARSJ	79642	broad.mit.edu	37	chr4	114824639	114824639	+	Frame_Shift_Del	DEL	A	A	-													ccacttcccaaaagggaaccAaaaaaggtatcaaatcctct							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:114824638_114824638CA>C	uc003ibq.1	-	1	1480	c.592_592TG>G	c.(592-594)ggtfs	p.G198fs	ARSJ_uc010imu.1_Frame_Shift_Del_p.G198fs|ARSJ_uc010imv.1_Frame_Shift_Del_p.G26fs	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	198						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AAAAGGGAACCAAAAAAGGTA	0.438													-	114824639	A	-	114824639	7	5	228	1	0	1	0	1	0	0	0	0	995	127	5	0	1212	0	ARSJ	4	114824639	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	557557	114824639	76329637	249	115268											
PDE5A	8654	broad.mit.edu	37	chr4	120527968	120527968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatttgaaacttcttccaGtgttgaaccttcagcaacat	6	9	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:120527968G>A	uc003idh.2	-	2	792	c.637C>T	c.(637-639)CTG>TTG	p.L213L	PDE5A_uc003idf.2_Silent_p.L171L|PDE5A_uc003idg.2_Silent_p.L161L	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	213	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACTTCTTCCAGTGTTGAACCT	0.453													A	120527968	G	A	120527968	2	1	228	1	0	0	0	0	0	0	0	1	11644	1020	36	4		4	PDE5A	4	120527968	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5703329	120527968	70626308	250	115269											
SPATA5	166378	broad.mit.edu	37	chr4	123949476	123949476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagttcttctctatgggCcacctgggtgctctaaaaca	10	10	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:123949476C>T	uc003iez.3	+	11	2078	c.2005C>T	c.(2005-2007)CCA>TCA	p.P669S	SPATA5_uc003iey.2_Missense_Mutation_p.P668S	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	669	ATP 2 (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						TCTCTATGGGCCACCTGGGTG	0.423													T	123949476	C	T	123949476	3	4	228	1	0	0	0	0	1	0	0	0	15010	739	26	2	2047	2	SPATA5	4	123949476	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3421508	123949476	67204800	251	115270											
INTU	27152	broad.mit.edu	37	chr4	128584639	128584639	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatttagtcaagcttctctGgggagaagaggttgaaggta	14	4	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:128584639G>T	uc003ifk.1	+	4	942	c.872G>T	c.(871-873)TGG>TTG	p.W291L	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	291										ovary(1)	1						AAGCTTCTCTGGGGAGAAGAG	0.428													T	128584639	G	T	128584639	3	4	228	1	0	0	0	0	1	0	0	0	7786	1357	47	5	886	5	INTU	4	128584639	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4635163	128584639	62569637	252	115271											
PHF17	79960	broad.mit.edu	37	chr4	129783052	129783052	+	Frame_Shift_Del	DEL	C	C	-													gaatggggcccctgagtgttCcccccggaatccgctggagc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:129783051_129783051TC>T	uc011cgy.2	+	8	1488	c.1174_1174TC>T	c.(1174-1176)tccfs	p.S392fs	PHF17_uc003igj.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igk.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igl.3_Frame_Shift_Del_p.S380fs|PHF17_uc003igm.3_Frame_Shift_Del_p.S392fs	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	392					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCTGAGTGTTCCCCCCGGAA	0.597													-	129783052	C	-	129783052	7	5	228	1	0	1	0	1	0	0	0	0	11828	855	30	0	1205	0	PHF17	4	129783052	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	1198413	129783052	61371224	253	115272											
PCDH10	57575	broad.mit.edu	37	chr4	134071968	134071969	+	Frame_Shift_Ins	INS	-	-	C													tggcgggggagcaggcctgcINSccccccagcagcagcgcacc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:134071967_134071968G>GC	uc003iha.3	+	0	1498_1499	c.672_673G>GC	c.(670-675)ctgcccfs	p.L224fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	224	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)		gagcaggCCTGCCCCCCCAGCA	0.668													C	134071969	-	C	134071968	7	5	228	1	0	1	1	0	0	0	0	0	11507	739	26	0	675	0	PCDH10	4	134071968	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	4288916	134071968	57082308	254	115273											
PCDH10	57575	broad.mit.edu	37	chr4	134073642	134073642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcgcaagaagaaactcAgcaagtcagacatcatgctg	12	10	3	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:134073642A>G	uc003iha.2	+	1	3173	c.2347A>G	c.(2347-2349)AGC>GGC	p.S783G	PCDH10_uc003igz.2_Missense_Mutation_p.S783G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	783	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGAAACTCAGCAAGTCAGA	0.622													G	134073642	A	G	134073642	3	3	228	1	0	0	0	0	1	0	0	0	11507	188	7	3	2349	3	PCDH10	4	134073642	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1674	134073642	57080634	255	115274											
PCDH10	57575	broad.mit.edu	37	chr4	134084249	134084249	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgattatcgcagcaAtctgcatgttcctggcatgg	12	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:134084249A>T	uc003iha.2	+	4	3741	c.2915A>T	c.(2914-2916)AAT>ATT	p.N972I		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	972	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TATCGCAGCAATCTGCATGTT	0.527													T	134084249	A	T	134084249	3	4	228	1	0	0	0	0	1	0	0	0	11507	101	4	5	2989	5	PCDH10	4	134084249	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	10607	134084249	57070027	256	115275											
PCDH18	54510	broad.mit.edu	37	chr4	138452481	138452481	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accggggagttttctaagagTtgtattatataagattgctg	11	4	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:138452481T>C	uc003ihe.3	-	1	1149	c.762A>G	c.(760-762)CAA>CAG	p.Q254Q	PCDH18_uc003ihf.3_Silent_p.Q247Q|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.Q34Q|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	254	Cadherin 3.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TTTCTAAGAGTTGTATTATAT	0.438													C	138452481	T	C	138452481	2	2	228	1	0	0	0	0	0	0	0	1	11513	1722	60	3		3	PCDH18	4	138452481	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	4368232	138452481	52701795	257	115276											
NAA15	80155	broad.mit.edu	37	chr4	140264042	140264042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatggattggttatgcTattgcttaccatttattaga	8	6	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:140264042T>C	uc003ihu.1	+	5	721	c.465T>C	c.(463-465)GCT>GCC	p.A155A		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	155	TPR 3.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						TTGGTTATGCTATTGCTTACC	0.338													C	140264042	T	C	140264042	2	2	228	1	0	0	0	0	0	0	0	1	10118	1509	53	3		3	NAA15	4	140264042	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1811561	140264042	50890234	258	115277											
ZNF827	152485	broad.mit.edu	37	chr4	146770683	146770683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggttcctctttaatcTtcaccatctgtgtttccttg	6	12	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:146770683T>G	uc003ikn.2	-	6	2060	c.2012A>C	c.(2011-2013)AAG>ACG	p.K671T	ZNF827_uc003ikm.2_Missense_Mutation_p.K671T|ZNF827_uc010iox.2_Missense_Mutation_p.K321T	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CTCTTTAATCTTCACCATCTG	0.453													G	146770683	T	G	146770683	3	3	228	1	0	0	0	0	1	0	0	0	18177	1609	56	5	1253	5	ZNF827	4	146770683	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	6506641	146770683	44383593	259	115278											
RPS3A	6189	broad.mit.edu	37	chr4	152024210	152024210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgcagacaaatgactTgaaagaagtggtcaataaat	11	4	1	5			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:152024210T>C	uc003ilz.2	+	4	593	c.542T>C	c.(541-543)TTG>TCG	p.L181S	RPS3A_uc011cie.1_Missense_Mutation_p.L181S|SNORD73A_uc003ima.1_5'Flank	NM_001006	NP_000997	P61247	RS3A_HUMAN	ribosomal protein S3a	181					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_hematologic(180;0.093)					ACAAATGACTTGAAAGAAGTG	0.428													C	152024210	T	C	152024210	3	2	228	1	0	0	0	0	1	0	0	0	13644	1821	63	3	556	3	RPS3A	4	152024210	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	5253527	152024210	39130066	260	115279											
FBXW7	55294	broad.mit.edu	37	chr4	153249361	153249362	+	Splice_Site	INS	-	-	T													gacaagattttcccttacctINStttttcatgaagatgcatac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:153249360_153249361C>CT	uc003ims.3	-	9	1580	c.1418_splice	c.e9+1	p.R473_splice	FBXW7_uc011cii.2_Splice_Site_p.R473_splice|FBXW7_uc003imt.3_Splice_Site_p.R473_splice|FBXW7_uc011cih.2_Splice_Site_p.R297_splice|FBXW7_uc003imq.3_Splice_Site_p.R393_splice|FBXW7_uc003imr.3_Splice_Site_p.R355_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	473					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R473fs*25(4)|p.R473fs*4(3)|p.R234fs*25(1)|p.R393fs*25(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)				TTTCCCTTACCTTTTTTCATGA	0.416			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								T	153249362	-	T	153249361	8	5	228	1	0	1	1	0	0	0	1	0	5769	1623	56	0	722	0	FBXW7	4	153249361	Splice_Site	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	1225151	153249361	37904915	261	115280											
SFRP2	6423	broad.mit.edu	37	chr4	154702746	154702746	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcgttgatgtcgttcatctCctcacaggtgcactgcaagc	10	13	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:154702746C>A	uc003inv.1	-	3	986	c.745G>T	c.(745-747)GAG>TAG	p.E249*		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	249	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TCGTTCATCTCCTCACAGGTG	0.552													A	154702746	C	A	154702746	4	1	228	1	0	0	0	0	0	1	0	0	14162	864	30	5	146	5	SFRP2	4	154702746	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1453385	154702746	36451530	262	115281											
DCHS2	54798	broad.mit.edu	37	chr4	155163835	155163835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggggagaaaagctgggGcattgtcatttatatcagtc	13	6	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:155163835G>A	uc003inw.2	-	22	5666	c.5666C>T	c.(5665-5667)GCC>GTC	p.A1889V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1889	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAAGCTGGGGCATTGTCATT	0.383													A	155163835	G	A	155163835	3	1	228	1	0	0	0	0	1	0	0	0	4288	1203	42	2	3100	2	DCHS2	4	155163835	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	461089	155163835	35990441	263	115282											
FNIP2	57600	broad.mit.edu	37	chr4	159789592	159789592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacagggtttcctgagtgcCcagagggcactgacagtaga	14	10	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:159789592C>A	uc003iqe.3	+	13	1987	c.1804C>A	c.(1804-1806)CCA>ACA	p.P602T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	602	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTGAGTGCCCAGAGGGCAC	0.592													A	159789592	C	A	159789592	3	1	228	1	0	0	0	0	1	0	0	0	5976	623	22	5	1854	5	FNIP2	4	159789592	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4625757	159789592	31364684	264	115283											
CLCN3	1182	broad.mit.edu	37	chr4	170628202	170628204	+	In_Frame_Del	DEL	AAG	AAG	-													ataccctttcttggatgcaaAagaagaattcactcatacca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:170628201_170628203AAAG>A	uc003ish.3	+	10	2492_2494	c.1933_1935AAAG>A	c.(1933-1935)aaa>A	p.K645del	CLCN3_uc003isi.3_In_Frame_Del_p.K645del|CLCN3_uc011cka.2_In_Frame_Del_p.K618del|CLCN3_uc011cjz.2_In_Frame_Del_p.K628del|CLCN3_uc003isj.2_In_Frame_Del_p.K618del	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	645					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|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)		CTTGGATGCAAAAGAAGAATTCA	0.473													-	170628204	AAG	-	170628202	7	5	228	1	0	1	0	1	0	0	0	0	3464	14	1	0	1972	0	CLCN3	4	170628202	In_Frame_Del	DEL	AAG	TCGA-D7-A4YV-01A-11D-A25D-08	10838610	170628202	20526074	265	115284											
VEGFC	7424	broad.mit.edu	37	chr4	177713407	177713407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgcctcgcgaggacccGggagcagcgcagcggcgagc	19	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:177713407G>A	uc003ius.1	-	1	489	c.59C>T	c.(58-60)CCG>CTG	p.P20L		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	20					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			lung(5)	5		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)		GCGAGGACCCGGGAGCAGCGC	0.498													A	177713407	G	A	177713407	3	1	228	1	0	0	0	0	1	0	0	0	17149	1116	39	1	1231	1	VEGFC	4	177713407	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7085205	177713407	13440869	266	115285											
NEIL3	55247	broad.mit.edu	37	chr4	178257356	178257356	+	Frame_Shift_Del	DEL	A	A	-													tgagagcagaaagtgaagttAaaaaacagaaaggccggatg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:178257355_178257355TA>T	uc003iut.2	+	3	624	c.507_507TA>T	c.(505-507)gttfs	p.V169fs	NEIL3_uc010irs.3_Frame_Shift_Del_p.V72fs	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	169					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|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)		AAAGTGAAGTTAAAAAACAGA	0.378								Base excision repair (BER), DNA glycosylases					-	178257356	A	-	178257356	7	5	228	1	0	1	0	1	0	0	0	0	10320	363	13	0	522	0	NEIL3	4	178257356	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	543949	178257356	12896920	267	115286											
C4orf41	60684	broad.mit.edu	37	chr4	184627978	184627978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctgccgtcatttgggcGtgtcagagagtcgttacctg	13	9	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:184627978G>A	uc003ivx.2	+	28	3250	c.3074G>A	c.(3073-3075)CGT>CAT	p.R1025H	C4orf41_uc003ivw.2_Missense_Mutation_p.R1025H|C4orf41_uc010isc.2_Missense_Mutation_p.R369H|C4orf41_uc003ivy.2_Missense_Mutation_p.R631H	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	1025											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TCATTTGGGCGTGTCAGAGAG	0.418													A	184627978	G	A	184627978	3	1	228	1	0	0	0	0	1	0	0	0	2270	1145	40	1	3180	1	C4orf41	4	184627978	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6370622	184627978	6526298	268	115287											
F11	2160	broad.mit.edu	37	chr4	187206920	187206920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtataaaatggcagaaagcgGgtatgatattgccttgttga	12	4	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187206920G>T	uc003iza.1	+	12	1766	c.1433G>T	c.(1432-1434)GGG>GTG	p.G478V		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	478	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCAGAAAGCGGGTATGATATT	0.363													T	187206920	G	T	187206920	3	4	228	1	0	0	0	0	1	0	0	0	5337	1232	43	5	1475	5	F11	4	187206920	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2578942	187206920	3947356	269	115288											
FAT1	2195	broad.mit.edu	37	chr4	187517817	187517817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcttttcggtgcccgtGcacagactcggggttaaaag	12	11	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187517817G>A	uc003izf.2	-	25	13065	c.12877C>T	c.(12877-12879)CAC>TAC	p.H4293Y	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.H184Y	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4293	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CGGTGCCCGTGCACAGACTCG	0.552										HNSCC(5;0.00058)			A	187517817	G	A	187517817	3	1	228	1	0	0	0	0	1	0	0	0	5689	1319	46	2	901	2	FAT1	4	187517817	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	310897	187517817	3636459	270	115289											
FAT1	2195	broad.mit.edu	37	chr4	187584590	187584590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggagaattttccatgAtttctgggtaataaacaggc	9	6	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187584590A>G	uc003izf.2	-	3	3631	c.3443T>C	c.(3442-3444)ATC>ACC	p.I1148T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1148	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATTTTCCATGATTTCTGGGTA	0.269										HNSCC(5;0.00058)			G	187584590	A	G	187584590	3	3	228	1	0	0	0	0	1	0	0	0	5689	333	12	3	10423	3	FAT1	4	187584590	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	66773	187584590	3569686	271	115290											
FAT1	2195	broad.mit.edu	37	chr4	187628366	187628366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttaacaacacccgtcacGctgtcaattgaaaatgtgtc	7	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr4:187628366G>A	uc003izf.2	-	2	2804	c.2616C>T	c.(2614-2616)AGC>AGT	p.S872S	FAT1_uc010iso.1_Silent_p.S872S	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	872	Extracellular (Potential).|Cadherin 7.				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CACCCGTCACGCTGTCAATTG	0.512										HNSCC(5;0.00058)			A	187628366	G	A	187628366	2	1	228	1	0	0	0	0	0	0	0	1	5689	1078	38	1		1	FAT1	4	187628366	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	43776	187628366	3525910	272	115291											
AHRR	57491	broad.mit.edu	37	chr5	353844	353844	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagaccatctccccacaGgaggcccgccgtgggggcag	13	17	1	1	rs111551936		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:353844G>A	uc003jav.2	+	3	119	c.75_splice	c.e3-1	p.Q25_splice	AHRR_uc003jaw.2_Splice_Site_p.Q21_splice|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Splice_Site_p.Q21_splice	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCTCCCCACAGGAGGCCCGCC	0.662													A	353844	G	A	353844	5	1	228	1	0	0	0	0	0	0	1	0	417	1014	35	4	84	4	AHRR	5	353844	Splice_Site	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		353844	180561416	273	115292											
SLC6A19	340024	broad.mit.edu	37	chr5	1216779	1216779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggttccgcgccacacagCgctacgacgactgcttcagc	11	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:1216779C>T	uc003jbw.3	+	7	1050	c.994C>T	c.(994-996)CGC>TGC	p.R332C		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	332	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	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)			CGCCACACAGCGCTACGACGA	0.622													T	1216779	C	T	1216779	3	4	228	1	0	0	0	0	1	0	0	0	14682	768	27	1	1020	1	SLC6A19	5	1216779	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	862935	1216779	179698481	274	115293											
SLC6A18	348932	broad.mit.edu	37	chr5	1246084	1246084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctcagctgctcacccGgcggaggcggacgtggaggg	18	12	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:1246084G>A	uc003jby.1	+	12	1901	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	593	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	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)			CTGCTCACCCGGCGGAGGCGG	0.731													A	1246084	G	A	1246084	3	1	228	1	0	0	0	0	1	0	0	0	14681	1116	39	1	1824	1	SLC6A18	5	1246084	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	29305	1246084	179669176	275	115294											
SLC6A3	6531	broad.mit.edu	37	chr5	1414836	1414836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtccccgatgggcacacTgtgcttctgtgccatgtacc	10	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:1414836T>C	uc003jck.2	-	8	1247	c.1126A>G	c.(1126-1128)AGT>GGT	p.S376G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	376					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			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)	ATGGGCACACTGTGCTTCTGT	0.612													C	1414836	T	C	1414836	3	2	228	1	0	0	0	0	1	0	0	0	14685	1580	55	3	768	3	SLC6A3	5	1414836	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	168752	1414836	179500424	276	115295											
ADCY2	108	broad.mit.edu	37	chr5	7784525	7784525	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgggctctgtgtctctctCtatattcttcatcacactgc	6	13	6	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:7784525C>A	uc003jdz.1	+	19	2499	c.2432C>A	c.(2431-2433)TCT>TAT	p.S811Y	ADCY2_uc011cmo.1_Missense_Mutation_p.S631Y|ADCY2_uc010itm.1_Missense_Mutation_p.S7Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	811	Helical; (Potential).				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			ovary(5)|pancreas(1)|skin(1)	7						GTGTCTCTCTCTATATTCTTC	0.378													A	7784525	C	A	7784525	3	1	228	1	0	0	0	0	1	0	0	0	294	913	32	5	2506	5	ADCY2	5	7784525	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6369689	7784525	173130735	277	115296											
PRDM9	56979	broad.mit.edu	37	chr5	23527861	23527861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacaggggagaagccctaCgtctgcagggaggatgagta	15	9	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:23527861C>T	uc003jgo.2	+	11	2846	c.2664C>T	c.(2662-2664)TAC>TAT	p.Y888Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	888					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAAGCCCTACGTCTGCAGGG	0.527										HNSCC(3;0.000094)			T	23527861	C	T	23527861	2	4	228	1	0	0	0	0	0	0	0	1	12463	547	19	1		1	PRDM9	5	23527861	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	15743336	23527861	157387399	278	115297											
CDH10	1008	broad.mit.edu	37	chr5	24535293	24535293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggttgtccccgataagcCtcccatctggccgcccatgt	10	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:24535293C>A	uc003jgr.1	-	5	1074	c.742G>T	c.(742-744)GGC>TGC	p.G248C	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	248	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGATAAGCCTCCCATCTGG	0.502										HNSCC(23;0.051)			A	24535293	C	A	24535293	3	1	228	1	0	0	0	0	1	0	0	0	3096	681	24	5	1656	5	CDH10	5	24535293	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1007432	24535293	156379967	279	115298											
C7	730	broad.mit.edu	37	chr5	40981654	40981654	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcaccagcataaggccTtgtgctgcggaaacccagta	10	12	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:40981654T>G	uc003jmh.2	+	18	2625	c.2511T>G	c.(2509-2511)CCT>CCG	p.P837P		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	837	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GCATAAGGCCTTGTGCTGCGG	0.577													G	40981654	T	G	40981654	2	3	228	1	0	0	0	0	0	0	0	1	2375	1596	56	5		5	C7	5	40981654	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	16446361	40981654	139933606	280	115299											
HCN1	348980	broad.mit.edu	37	chr5	45303883	45303883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacaaaattaggatccGcattagcaaataaaggcatt	7	8	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:45303883G>A	uc003jok.2	-	6	1461	c.1436C>T	c.(1435-1437)GCG>GTG	p.A479V		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	479	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						ATTAGGATCCGCATTAGCAAA	0.383													A	45303883	G	A	45303883	3	1	228	1	0	0	0	0	1	0	0	0	6996	1087	38	1	1248	1	HCN1	5	45303883	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4322229	45303883	135611377	281	115300											
SFRS12	140890	broad.mit.edu	37	chr5	65457976	65457976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgggagctataccagcaGcagcactagaccccaacatt	9	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:65457976G>A	uc003juo.2	+	5	763	c.103G>A	c.(103-105)GCA>ACA	p.A35T	SFRS12_uc003jun.2_Missense_Mutation_p.A151T|SFRS12_uc010iwy.2_Missense_Mutation_p.A35T	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	35					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		TATACCAGCAGCAGCACTAGA	0.413													A	65457976	G	A	65457976	3	1	228	1	0	0	0	0	1	0	0	0	14167	971	34	2	465	2	SFRS12	5	65457976	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	20154093	65457976	115457284	282	115301											
CMYA5	202333	broad.mit.edu	37	chr5	79095310	79095310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcatcaacgcagagagCgagcagttgctcttcatcat	8	11	6	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:79095310C>T	uc003kgc.2	+	13	12153	c.12081C>T	c.(12079-12081)AGC>AGT	p.S4027S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4027	B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		ACGCAGAGAGCGAGCAGTTGC	0.507													T	79095310	C	T	79095310	2	4	228	1	0	0	0	0	0	0	0	1	3590	767	27	1		1	CMYA5	5	79095310	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	13637334	79095310	101819950	283	115302											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854592	79854592	+	Frame_Shift_Del	DEL	G	G	-													ttctcctgctcaggggacctGgggggatattctccaacaat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:79854591_79854591TG>T	uc010jam.3	-	3	1598	c.1248_1248CA>A	c.(1246-1248)ccafs	p.P416fs	ANKRD34B_uc003kgw.3_Frame_Shift_Del_p.P416fs|ANKRD34B_uc010jan.3_Frame_Shift_Del_p.P416fs|ANKRD34B_uc021yax.1_Frame_Shift_Del_p.P416fs	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	416						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAGGGGACCTGGGGGGATAT	0.463													-	79854592	G	-	79854592	7	5	228	1	0	1	0	1	0	0	0	0	663	1348	47	0	301	0	ANKRD34B	5	79854592	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	759282	79854592	101060668	284	115303											
SSBP2	23635	broad.mit.edu	37	chr5	80770364	80770364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagtaatggctgacttccTgggacacctccaagtgccta	12	11	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:80770364T>C	uc003kho.2	-	7	661	c.450A>G	c.(448-450)CCA>CCG	p.P150P	SSBP2_uc010jar.2_Silent_p.P38P|SSBP2_uc003khn.2_Silent_p.P24P|SSBP2_uc003khp.2_Silent_p.P150P|SSBP2_uc011ctp.1_Silent_p.P130P|SSBP2_uc011ctq.1_Silent_p.P120P|SSBP2_uc011ctr.1_Silent_p.P120P	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	150	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GCTGACTTCCTGGGACACCTC	0.338													C	80770364	T	C	80770364	2	2	228	1	0	0	0	0	0	0	0	1	15179	1567	55	3		3	SSBP2	5	80770364	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	915772	80770364	100144896	285	115304											
NR2F1	7025	broad.mit.edu	37	chr5	92923744	92923744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcgctgctgctgcgcgcCgagccctaccccacgtcgcg	11	19	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:92923744C>T	uc003kkj.2	+	2	2272	c.585C>T	c.(583-585)GCC>GCT	p.A195A		NM_005654	NP_005645	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			urinary_tract(1)|ovary(1)|lung(1)	3		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)		TGCTGCGCGCCGAGCCCTACC	0.647													T	92923744	C	T	92923744	2	4	228	1	0	0	0	0	0	0	0	1	10627	639	23	1		1	NR2F1	5	92923744	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	12153380	92923744	87991516	286	115305											
CAST	831	broad.mit.edu	37	chr5	96071876	96071876	+	Splice_Site	DEL	A	A	-													aatttctcaattctcaccagAaaaaagaaaagaaatcatta							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:96071875_96071875GA>G	uc011cuo.1	+	9	604	c.520_splice	c.e9-1	p.K174_splice	CAST_uc003klt.3_Splice_Site_p.K128_splice|CAST_uc021ybr.1_Splice_Site_p.K189_splice|CAST_uc003klx.3_Splice_Site_p.K170_splice|CAST_uc003klz.1_Splice_Site_p.K128_splice|CAST_uc011cup.2_Splice_Site_p.K79_splice|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Splice_Site_p.K128_splice|CAST_uc021ybt.1_Splice_Site_p.K106_splice|CAST_uc011cut.2_Intron|CAST_uc011cur.2_Splice_Site_p.K114_splice|CAST_uc011cus.2_Splice_Site_p.K128_splice|CAST_uc003kma.2_Splice_Site_p.K87_splice|CAST_uc003kmd.3_Splice_Site_p.K106_splice	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	128							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ATTCTCACCAGAAAAAAGAAA	0.323													-	96071876	A	-	96071876	8	5	228	1	0	1	0	1	0	0	1	0	2684	260	9	0	669	0	CAST	5	96071876	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	3148132	96071876	84843384	287	115306											
APC	324	broad.mit.edu	37	chr5	112173858	112173858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagtttggagagagaacGcggaattggtctaggcaact	14	5	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:112173858G>A	uc010jby.2	+	16	2947	c.2567G>A	c.(2566-2568)CGC>CAC	p.R856H	APC_uc011cvt.1_Missense_Mutation_p.R838H|APC_uc003kpz.3_Missense_Mutation_p.R856H|APC_uc003kpy.3_Missense_Mutation_p.R856H|APC_uc010jbz.2_Missense_Mutation_p.R573H|APC_uc010jca.2_Missense_Mutation_p.R156H	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	856	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.R856fs*6(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		GAGAGAGAACGCGGAATTGGT	0.443		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112173858	G	A	112173858	3	1	228	1	0	0	0	0	1	0	0	0	763	1087	38	1	2625	1	APC	5	112173858	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	16101982	112173858	68741402	288	115307											
KCNN2	3781	broad.mit.edu	37	chr5	113831808	113831808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcacttacaatgctgagCggtcccggtcctcgtccagg	11	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:113831808C>T	uc003kqo.2	+	8	2126	c.1669C>T	c.(1669-1671)CGG>TGG	p.R557W	KCNN2_uc003kqp.2_Missense_Mutation_p.R209W|KCNN2_uc010jcg.2_RNA|uc003kqr.1_RNA	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	557						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		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)		CAATGCTGAGCGGTCCCGGTC	0.527													T	113831808	C	T	113831808	3	4	228	1	0	0	0	0	1	0	0	0	8079	759	27	1	1699	1	KCNN2	5	113831808	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1657950	113831808	67083452	289	115308											
PRR16	51334	broad.mit.edu	37	chr5	120022314	120022314	+	Frame_Shift_Del	DEL	C	C	-													ataagccacagtaacagcttCccccctatcagacctgcaac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:120022313_120022313TC>T	uc003ksq.3	+	1	987	c.824_824TC>T	c.(823-825)ttcfs	p.F275fs	PRR16_uc003ksp.3_Frame_Shift_Del_p.F252fs|PRR16_uc003ksr.3_Frame_Shift_Del_p.F205fs	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	275	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTAACAGCTTCCCCCCTATC	0.532													-	120022314	C	-	120022314	7	5	228	1	0	1	0	1	0	0	0	0	12589	854	30	0	762	0	PRR16	5	120022314	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	6190506	120022314	60892946	290	115309											
ZNF608	57507	broad.mit.edu	37	chr5	123982598	123982598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtttttgttaggctccGgagtagagggagcttttgag	15	4	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:123982598G>A	uc003ktq.1	-	4	3602	c.3479C>T	c.(3478-3480)CCG>CTG	p.P1160L	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.P1160L|ZNF608_uc003ktt.1_Missense_Mutation_p.P1160L|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1160						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		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)		GTTAGGCTCCGGAGTAGAGGG	0.463													A	123982598	G	A	123982598	3	1	228	1	0	0	0	0	1	0	0	0	18031	1116	39	1	1083	1	ZNF608	5	123982598	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3960284	123982598	56932662	291	115310											
MEGF10	84466	broad.mit.edu	37	chr5	126769169	126769169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcatctgcgagtgtgCaccaggcttccgaggcacca	13	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:126769169C>T	uc003kuh.3	+	15	2170	c.1808C>T	c.(1807-1809)GCA>GTA	p.A603V	MEGF10_uc003kui.3_Missense_Mutation_p.A603V	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	603	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		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)		TGCGAGTGTGCACCAGGCTTC	0.547													T	126769169	C	T	126769169	3	4	228	1	0	0	0	0	1	0	0	0	9460	710	25	2	1858	2	MEGF10	5	126769169	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2786571	126769169	54146091	292	115311											
CHSY3	337876	broad.mit.edu	37	chr5	129240751	129240751	+	Frame_Shift_Del	DEL	C	C	-													cacggcaggagcagtcgccgCcccccgcgcgccaggatctc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:129240751delC	uc003kvd.2	+	1	229	c.229delC	c.(229-231)CCCfs	p.P77fs		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	77	Lumenal (Potential).					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			ovary(2)|pancreas(1)	3		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)		GCAGTCGCCGCCCCCCGCGCG	0.736													-	129240751	C	-	129240751	7	5	228	1	0	1	0	1	0	0	0	0	3413	739	26	0	231	0	CHSY3	5	129240751	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	2471582	129240751	51674509	293	115312											
CHSY3	337876	broad.mit.edu	37	chr5	129243833	129243833	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctctctacctgggacagaCtggcctggggaatattgaag	13	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:129243833C>G	uc003kvd.2	+	2	866	c.866C>G	c.(865-867)ACT>AGT	p.T289S		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	289	Lumenal (Potential).					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			ovary(2)|pancreas(1)	3		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)		CTGGGACAGACTGGCCTGGGG	0.453													G	129243833	C	G	129243833	3	3	228	1	0	0	0	0	1	0	0	0	3413	565	20	5	872	5	CHSY3	5	129243833	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3082	129243833	51671427	294	115313											
LRRTM2	26045	broad.mit.edu	37	chr5	138210079	138210079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagcccttgtctgtggcGtttggcactgagtggaagcc	15	9	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138210079G>A	uc011cyz.1	-	2	628	c.171C>T	c.(169-171)AAC>AAT	p.N57N	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Intron|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	57	Extracellular (Potential).|LRRNT.					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTCTGTGGCGTTTGGCACTG	0.547													A	138210079	G	A	138210079	2	1	228	1	0	0	0	0	0	0	0	1	9040	1136	40	1		1	LRRTM2	5	138210079	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8966246	138210079	42705181	295	115314											
CTNNA1	1495	broad.mit.edu	37	chr5	138266343	138266343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgacagactttacccGgtgagcagcaccccggcccc	12	15	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138266343G>A	uc003ldh.2	+	15	2287	c.2192G>A	c.(2191-2193)CGA>CAA	p.R731Q	CTNNA1_uc011cyx.1_Missense_Mutation_p.R628Q|CTNNA1_uc011cyy.1_Missense_Mutation_p.R608Q|CTNNA1_uc003ldi.2_Missense_Mutation_p.R429Q|CTNNA1_uc003ldj.2_Missense_Mutation_p.R731Q|CTNNA1_uc003ldl.2_Missense_Mutation_p.R361Q	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	731					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTTACCCGGTGAGCAGCA	0.577													A	138266343	G	A	138266343	3	1	228	1	0	0	0	0	1	0	0	0	4012	1130	39	1	2246	1	CTNNA1	5	138266343	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	56264	138266343	42648917	296	115315											
SLC23A1	9963	broad.mit.edu	37	chr5	138715404	138715404	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccagggtgcaatagccatGatgtcaccacgggcatcggt	12	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138715404G>A	uc003leh.2	-	8	985	c.888C>T	c.(886-888)ATC>ATT	p.I296I	SLC23A1_uc003leg.2_Silent_p.I300I	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	296					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				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAATAGCCATGATGTCACCAC	0.602													A	138715404	G	A	138715404	2	1	228	1	0	0	0	0	0	0	0	1	14462	1280	45	4		4	SLC23A1	5	138715404	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	449061	138715404	42199856	297	115316											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	228	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	48971	138764375	42150885	298	115317											
PSD2	84249	broad.mit.edu	37	chr5	139189281	139189281	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggcctagccctggggccaGacttgaacattctggaagat	12	10	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:139189281G>T	uc003leu.1	+	2	461	c.256G>T	c.(256-258)GAC>TAC	p.D86Y		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	86					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGGCCAGACTTGAACAT	0.617													T	139189281	G	T	139189281	3	4	228	1	0	0	0	0	1	0	0	0	12647	942	33	5	258	5	PSD2	5	139189281	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	424906	139189281	41725979	299	115318											
TMCO6	55374	broad.mit.edu	37	chr5	140021628	140021628	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctacctctccagtcacagctCagacttcatagtaagccctg	6	15	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140021628C>G	uc003lgl.2	+	4	589	c.488C>G	c.(487-489)TCA>TGA	p.S163*	TMCO6_uc011czj.1_3'UTR|TMCO6_uc003lgm.2_Nonsense_Mutation_p.S163*|TMCO6_uc010jft.2_Intron|TMCO6_uc003lgn.2_Nonsense_Mutation_p.S54*|TMCO6_uc003lgo.2_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	163					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCACAGCTCAGACTTCATA	0.512													G	140021628	C	G	140021628	4	3	228	1	0	0	0	0	0	1	0	0	15997	838	29	5	502	5	TMCO6	5	140021628	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	832347	140021628	40893632	300	115319											
IK	3550	broad.mit.edu	37	chr5	140039781	140039781	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagtgctacccagccacGtatgtgaaacctggttaagg	12	10	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140039781G>A	uc003lgq.2	+	15	1465	c.1355_splice	c.e15+1	p.T452_splice		NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein						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)			ACCCAGCCACGTATGTGAAAC	0.443													A	140039781	G	A	140039781	5	1	228	1	0	0	0	0	0	0	1	0	7608	1159	40	1	1414	1	IK	5	140039781	Splice_Site	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	18153	140039781	40875479	301	115320											
PCDHA3	56145	broad.mit.edu	37	chr5	140182211	140182211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctgccacatcttcacgGtgtctgcgcgggacgcggac	15	14	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140182211G>A	uc003lhf.2	+	1	1429	c.1429G>A	c.(1429-1431)GTG>ATG	p.V477M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V477M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	477	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTTCACGGTGTCTGCGCG	0.667													A	140182211	G	A	140182211	3	1	228	1	0	0	0	0	1	0	0	0	11525	1261	44	4	1431	4	PCDHA3	5	140182211	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	142430	140182211	40733049	302	115321											
PCDHA8	56140	broad.mit.edu	37	chr5	140221632	140221632	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgataatgctcccactttCgaacagtctgaatacgaagt	7	9	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140221632C>T	uc003lhs.2	+	1	726	c.726C>T	c.(724-726)TTC>TTT	p.F242F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F242F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	242	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCACTTTCGAACAGTCTG	0.473													T	140221632	C	T	140221632	2	4	228	1	0	0	0	0	0	0	0	1	11530	883	31	1		1	PCDHA8	5	140221632	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	39421	140221632	40693628	303	115322											
PCDHA10	56139	broad.mit.edu	37	chr5	140237471	140237471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtatgaattgcagtcggCggcggttggtgcacgcatcc	15	10	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140237471C>T	uc003lhx.2	+	1	1838	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A613V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	613	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGTCGGCGGCGGTTGGT	0.642													T	140237471	C	T	140237471	3	4	228	1	0	0	0	0	1	0	0	0	11520	768	27	1	1840	1	PCDHA10	5	140237471	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	15839	140237471	40677789	304	115323											
PCDHA12	56137	broad.mit.edu	37	chr5	140257310	140257310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggagttggtcttactcGcagcagaggaggcagagggt	19	6	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140257310G>A	uc003lic.2	+	1	2380	c.2253G>A	c.(2251-2253)TCG>TCA	p.S751S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.S751S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	751	5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGA	0.647													A	140257310	G	A	140257310	2	1	228	1	0	0	0	0	0	0	0	1	11522	1074	38	1		1	PCDHA12	5	140257310	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	19839	140257310	40657950	305	115324											
PCDHB14	56122	broad.mit.edu	37	chr5	140604991	140604991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	17	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140604991C>G	uc003ljb.2	+	1	1914	c.1914C>G	c.(1912-1914)CAC>CAG	p.H638Q	PCDHB14_uc011dal.1_Missense_Mutation_p.H485Q	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	638	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.701													G	140604991	C	G	140604991	3	3	228	1	0	0	0	0	1	0	0	0	11539	477	17	5	1916	5	PCDHB14	5	140604991	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	347681	140604991	40310269	306	115325											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740030	140740030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggatttcgatactgtcGctgaaaatccactaaatatt	6	8	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140740030G>A	uc003ljs.1	+	1	328	c.328G>A	c.(328-330)GCT>ACT	p.A110T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.A110T	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	110	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATACTGTCGCTGAAAATCC	0.383													A	140740030	G	A	140740030	3	1	228	1	0	0	0	0	1	0	0	0	11563	1087	38	1	330	1	PCDHGB2	5	140740030	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	135039	140740030	40175230	307	115326											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746185	140746185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctccctcaccgcggactCgaggaagagtcacctgatct	11	14	4	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140746185C>T	uc003lju.1	+	1	2288	c.2288C>T	c.(2287-2289)TCG>TTG	p.S763L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.S763L	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	763	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGACTCGAGGAAGAGT	0.582													T	140746185	C	T	140746185	3	4	228	1	0	0	0	0	1	0	0	0	11557	893	31	1	2290	1	PCDHGA5	5	140746185	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6155	140746185	40169075	308	115327											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763130	140763130	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggcggcgacccgcccCgatccagcaccgcccacatc	10	20	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140763130C>T	uc003lka.1	+	1	664	c.664C>T	c.(664-666)CGA>TGA	p.R222*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.R222*	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCCGCCCCGATCCAGCAC	0.607													T	140763130	C	T	140763130	4	4	228	1	0	0	0	0	0	1	0	0	11559	644	23	1	666	1	PCDHGA7	5	140763130	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	16945	140763130	40152130	309	115328											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768795	140768795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaaatgacaacgctccGgttttctcacagtcttccta	7	11	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140768795G>A	uc003lkc.1	+	1	1344	c.1344G>A	c.(1342-1344)CCG>CCA	p.P448P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.P448P	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	448	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCTCCGGTTTTCTCAC	0.532													A	140768795	G	A	140768795	2	1	228	1	0	0	0	0	0	0	0	1	11565	1103	39	1		1	PCDHGB4	5	140768795	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5665	140768795	40146465	310	115329											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773876	140773876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggacacgctgcagggggCgcccctgtcctcgtatatct	13	14	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:140773876C>T	uc003lkd.1	+	1	2394	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A499V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	499	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGGGGCGCCCCTGTCC	0.567													T	140773876	C	T	140773876	3	4	228	1	0	0	0	0	1	0	0	0	11560	768	27	1	1498	1	PCDHGA8	5	140773876	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5081	140773876	40141384	311	115330											
PCDH12	51294	broad.mit.edu	37	chr5	141334608	141334608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcagccacagacagccGgaccaggctccgcaggatct	13	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:141334608G>A	uc003llx.2	-	1	4020	c.2809C>T	c.(2809-2811)CGG>TGG	p.R937W		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	937	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACAGCCGGACCAGGCTC	0.612													A	141334608	G	A	141334608	3	1	228	1	0	0	0	0	1	0	0	0	11510	1115	39	1	761	1	PCDH12	5	141334608	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	560732	141334608	39580652	312	115331											
SPRY4	81848	broad.mit.edu	37	chr5	141694395	141694395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagagctggggcgcccGctgaaggagatccaatggtg	15	11	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:141694395G>A	uc003lml.2	-	2	538	c.279C>T	c.(277-279)AGC>AGT	p.S93S	SPRY4_uc010jgi.1_Silent_p.S116S	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	93					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCGCCCGCTGAAGGAGA	0.677									Testicular_Cancer_Familial_Clustering_of				A	141694395	G	A	141694395	2	1	228	1	0	0	0	0	0	0	0	1	15107	1078	38	1		1	SPRY4	5	141694395	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	359787	141694395	39220865	313	115332											
KCTD16	57528	broad.mit.edu	37	chr5	143853254	143853254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggtcaccctcacactgCgattgctgctgcaagaatgg	11	11	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:143853254C>T	uc003lnm.1	+	4	1493	c.864C>T	c.(862-864)TGC>TGT	p.C288C	KCTD16_uc003lnn.1_Silent_p.C288C	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	288						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTCACACTGCGATTGCTGCT	0.522													T	143853254	C	T	143853254	2	4	228	1	0	0	0	0	0	0	0	1	8103	776	27	1		1	KCTD16	5	143853254	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2158859	143853254	37062006	314	115333											
JAKMIP2	9832	broad.mit.edu	37	chr5	147029959	147029959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatttctcgttttgggCtgctcatgttgcactcagcc	10	11	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:147029959C>T	uc003loq.1	-	4	1161	c.779G>A	c.(778-780)AGC>AAC	p.S260N	JAKMIP2_uc011dbx.1_Missense_Mutation_p.S218N|JAKMIP2_uc003lor.1_Missense_Mutation_p.S260N|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.S260N	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	260						Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTTTTGGGCTGCTCATGTT	0.483													T	147029959	C	T	147029959	3	4	228	1	0	0	0	0	1	0	0	0	7941	797	28	2	1725	2	JAKMIP2	5	147029959	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3176705	147029959	33885301	315	115334											
FBXO38	81545	broad.mit.edu	37	chr5	147818048	147818048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgcatcatatacctacGcccaatgcagcaggtaacga	7	13	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:147818048G>A	uc003lpf.1	+	18	3131	c.3011G>A	c.(3010-3012)CGC>CAC	p.R1004H	FBXO38_uc003lpg.1_Missense_Mutation_p.R929H|FBXO38_uc003lph.2_Missense_Mutation_p.R759H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	1004						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATACCTACGCCCAATGCAG	0.408													A	147818048	G	A	147818048	3	1	228	1	0	0	0	0	1	0	0	0	5746	1087	38	1	3077	1	FBXO38	5	147818048	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	788089	147818048	33097212	316	115335											
SLC36A2	153201	broad.mit.edu	37	chr5	150718651	150718651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcagccaaaaacacaatGtacacacagcagaagccaag	6	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:150718651G>A	uc003lty.2	-	5	625	c.495C>T	c.(493-495)TAC>TAT	p.Y165Y	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_Intron|SLC36A2_uc003lua.2_Intron|SLC36A2_uc010jhv.2_Silent_p.Y165Y|SLC36A2_uc011dct.1_Silent_p.Y165Y	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	165	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAACACAATGTACACACAGC	0.358													A	150718651	G	A	150718651	2	1	228	1	0	0	0	0	0	0	0	1	14594	1372	48	4		4	SLC36A2	5	150718651	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2900603	150718651	30196609	317	115336											
FAT2	2196	broad.mit.edu	37	chr5	150917383	150917383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagcttgaattcatgcGccccagggccatgcagagaa	11	12	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:150917383G>A	uc003lue.3	-	11	9177	c.9164C>T	c.(9163-9165)GCG>GTG	p.A3055V	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3055	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCATGCGCCCCAGGGCC	0.463													A	150917383	G	A	150917383	3	1	228	1	0	0	0	0	1	0	0	0	5690	1087	38	1	3937	1	FAT2	5	150917383	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	198732	150917383	29997877	318	115337											
C5orf54	63920	broad.mit.edu	37	chr5	159821572	159821572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaagcctgaaataggCgatgatttggagctctccct	10	9	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:159821572C>T	uc003lye.1	-	2	1390	c.926G>A	c.(925-927)CGC>CAC	p.R309H	C5orf54_uc003lyf.1_Missense_Mutation_p.R309H	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	309										pancreas(1)	1						ctgaaataggcgatgatttgg	0													T	159821572	C	T	159821572	3	4	228	1	0	0	0	0	1	0	0	0	2310	768	27	1	862	1	C5orf54	5	159821572	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	8904189	159821572	21093688	319	115338											
SLU7	10569	broad.mit.edu	37	chr5	159835380	159835380	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagattccggacagtaattcGtctcttggagtcaaaattct	9	8	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:159835380G>A	uc003lyg.2	-	8	930	c.775C>T	c.(775-777)CGA>TGA	p.R259*		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	259					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			ovary(1)	1	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)			ACAGTAATTCGTCTCTTGGAG	0.358													A	159835380	G	A	159835380	4	1	228	1	0	0	0	0	0	1	0	0	14755	1153	40	1	1021	1	SLU7	5	159835380	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	13808	159835380	21079880	320	115339											
MAT2B	27430	broad.mit.edu	37	chr5	162943693	162943693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggccactgtgtgccgGcagctagcagagaagagaat	15	8	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:162943693G>A	uc003lzk.2	+	5	804	c.696G>A	c.(694-696)CGG>CGA	p.R232R	MAT2B_uc003lzj.2_Silent_p.R221R|MAT2B_uc003lzl.1_Silent_p.R232R|MAT2B_uc003lzm.2_5'Flank	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	232					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGTGTGCCGGCAGCTAGCAG	0.478													A	162943693	G	A	162943693	2	1	228	1	0	0	0	0	0	0	0	1	9331	1190	42	2		2	MAT2B	5	162943693	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3108313	162943693	17971567	321	115340											
ODZ2	57451	broad.mit.edu	37	chr5	167675370	167675370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctagatttgaagaactacGtgacaggtgaggattctgcc	12	7	1	5			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:167675370G>A	uc010jjd.2	+	27	7399	c.7399G>A	c.(7399-7401)GTG>ATG	p.V2467M	ODZ2_uc003lzr.3_Missense_Mutation_p.V2237M|ODZ2_uc003lzt.3_Missense_Mutation_p.V1840M|ODZ2_uc010jje.2_Missense_Mutation_p.V1731M	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GAAGAACTACGTGACAGGTGA	0.517													A	167675370	G	A	167675370	3	1	228	1	0	0	0	0	1	0	0	0	10835	1145	40	1	7505	1	ODZ2	5	167675370	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4731677	167675370	13239890	322	115341											
WWC1	23286	broad.mit.edu	37	chr5	167891734	167891734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgtccccacccccacagCcttcctcggtcaagtcgctg	8	20	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:167891734C>T	uc003lzu.2	+	21	3010	c.2917C>T	c.(2917-2919)CCT>TCT	p.P973S	WWC1_uc003lzv.2_Missense_Mutation_p.P979S|WWC1_uc011den.1_Missense_Mutation_p.P979S|WWC1_uc003lzw.2_Missense_Mutation_p.P772S|WWC1_uc010jjf.1_Missense_Mutation_p.P245S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	973	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			ovary(2)|skin(2)|breast(1)	5	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)		ACCCCCACAGCCTTCCTCGGT	0.587													T	167891734	C	T	167891734	3	4	228	1	0	0	0	0	1	0	0	0	17408	753	26	2	3017	2	WWC1	5	167891734	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	216364	167891734	13023526	323	115342											
N4BP3	23138	broad.mit.edu	37	chr5	177548704	177548704	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctgtgagactgatgActgcaagagcaggggcctgc	16	9	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:177548704A>C	uc003mik.1	+	5	1584	c.1337A>C	c.(1336-1338)GAC>GCC	p.D446A	N4BP3_uc003mil.1_Missense_Mutation_p.D115A	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	446	Potential.					cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|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)			GAGACTGATGACTGCAAGAGC	0.692													C	177548704	A	C	177548704	3	2	228	1	0	0	0	0	1	0	0	0	10113	275	10	5	1351	5	N4BP3	5	177548704	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	9656970	177548704	3366556	324	115343											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044892	179044892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtagagccaccatcccCgtatctgtgatcagacattc	8	12	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:179044892C>T	uc003mkf.3	-	8	935	c.829G>A	c.(829-831)GGG>AGG	p.G277R	HNRNPH1_uc011dgn.1_Missense_Mutation_p.G7R|HNRNPH1_uc003mkg.3_Missense_Mutation_p.G185R|HNRNPH1_uc003mke.3_Missense_Mutation_p.G277R|HNRNPH1_uc003mkh.3_Missense_Mutation_p.G277R	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	277	2 X 16 AA Gly-rich approximate 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				0						CCACCATCCCCGTATCTGTGA	0.418													T	179044892	C	T	179044892	3	4	228	1	0	0	0	0	1	0	0	0	7266	652	23	1	544	1	HNRNPH1	5	179044892	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1496188	179044892	1870368	325	115344											
TBC1D9B	23061	broad.mit.edu	37	chr5	179306143	179306143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtacatgcacacgccacGcccgtactcgaagaagtgga	12	13	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr5:179306143G>A	uc003mlh.2	-	9	1508	c.1471C>T	c.(1471-1473)CGT>TGT	p.R491C	TBC1D9B_uc003mli.2_Missense_Mutation_p.R491C|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R491C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	491						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)			CACACGCCACGCCCGTACTCG	0.612													A	179306143	G	A	179306143	3	1	228	1	0	0	0	0	1	0	0	0	15625	1087	38	1	2337	1	TBC1D9B	5	179306143	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	261251	179306143	1609117	326	115345											
BMP6	654	broad.mit.edu	37	chr6	7727711	7727711	+	Frame_Shift_Del	DEL	C	C	-													cgtcccagcgtcggcagccgCccccgggcgccgcgcacccg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:7727711delC	uc003mxu.3	+	1	701	c.523delC	c.(523-525)CCCfs	p.P175fs		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	175					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TCGGCAGCCGCCCCCGGGCGC	0.751													-	7727711	C	-	7727711	7	5	228	1	0	1	0	1	0	0	0	0	1464	739	26	0	525	0	BMP6	6	7727711	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08		7727711	163387356	327	115346											
GCNT2	2651	broad.mit.edu	37	chr6	10530035	10530035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacacctacagccccgaCgaacatttctgggtgacact	9	13	1	1	rs150542637	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:10530035C>T	uc010joo.2	+	3	1442	c.891C>T	c.(889-891)GAC>GAT	p.D297D	GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.D296D|GCNT2_uc010jon.2_Silent_p.D296D	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	297	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	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)		ACAGCCCCGACGAACATTTCT	0.473													T	10530035	C	T	10530035	2	4	228	1	0	0	0	0	0	0	0	1	6301	535	19	1		1	GCNT2	6	10530035	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2802324	10530035	160585032	328	115347											
MBOAT1	154141	broad.mit.edu	37	chr6	20144502	20144502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgtatattcggctgAtgtggcatattgtaagatat	12	3	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:20144502A>C	uc003ncx.1	-	4	573	c.368T>G	c.(367-369)ATC>AGC	p.I123S	MBOAT1_uc011dji.1_5'UTR	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	123					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	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)			TATTCGGCTGATGTGGCATAT	0.353													C	20144502	A	C	20144502	3	2	228	1	0	0	0	0	1	0	0	0	9356	333	12	5	1159	5	MBOAT1	6	20144502	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	9614467	20144502	150970565	329	115348											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727363	25727363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatatctttgagcgtatagCgagcgaggcatcacgtttgg	13	7	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:25727363C>T	uc003nfd.2	+	1	227	c.227C>T	c.(226-228)GCG>GTG	p.A76V	HIST1H2AA_uc003nfc.2_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	76					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)	1						GAGCGTATAGCGAGCGAGGCA	0.502													T	25727363	C	T	25727363	3	4	228	1	0	0	0	0	1	0	0	0	7140	768	27	1	229	1	HIST1H2BA	6	25727363	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5582861	25727363	145387704	330	115349											
SLC17A4	10050	broad.mit.edu	37	chr6	25777084	25777084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtccctgccctgggtcAgatccagccacagcatgacc	10	16	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:25777084A>G	uc003nfe.2	+	10	1284	c.1165A>G	c.(1165-1167)AGA>GGA	p.R389G	SLC17A4_uc011djx.1_Missense_Mutation_p.R159G|SLC17A4_uc003nff.1_Missense_Mutation_p.R178G|SLC17A4_uc003nfg.2_Missense_Mutation_p.R326G|SLC17A4_uc010jqa.2_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	389					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						GCCCTGGGTCAGATCCAGCCA	0.537													G	25777084	A	G	25777084	3	3	228	1	0	0	0	0	1	0	0	0	14419	180	7	3	1199	3	SLC17A4	6	25777084	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	49721	25777084	145337983	331	115350											
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199464	26199464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccgccttgcttgccgcgtCcggacattttgaattcttaa	8	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:26199464C>T	uc003ngw.2	-	1	8	c.8G>A	c.(7-9)GGA>GAA	p.G3E	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	3					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CTTGCCGCGTCCGGACATTTT	0.498													T	26199464	C	T	26199464	3	4	228	1	0	0	0	0	1	0	0	0	7131	869	30	4	388	4	HIST1H2AD	6	26199464	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	422380	26199464	144915603	332	115351											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100413	27100413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccttgtacacatagatGgaatagctctccttgcggct	9	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:27100413G>A	uc003niv.2	-	1	163	c.117C>T	c.(115-117)TCC>TCT	p.S39S	HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	39					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACACATAGATGGAATAGCTCT	0.542													A	27100413	G	A	27100413	2	1	228	1	0	0	0	0	0	0	0	1	7149	1335	47	4		4	HIST1H2BJ	6	27100413	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	900949	27100413	144014654	333	115352											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115219	27115219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaaagtcaccatcgcGcagggtggtgtcttgcccaa	13	12	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:27115219G>A	uc003niz.2	+	1	312	c.312G>A	c.(310-312)GCG>GCA	p.A104A	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	104					nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCACCATCGCGCAGGGTGGTG	0.562													A	27115219	G	A	27115219	2	1	228	1	0	0	0	0	0	0	0	1	7134	1074	38	1		1	HIST1H2AH	6	27115219	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	14806	27115219	143999848	334	115353											
MDC1	9656	broad.mit.edu	37	chr6	30681832	30681832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggctcccacagtctcggaGgataggtgccttgtcccagg	13	12	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:30681832G>T	uc003nrg.3	-	3	705	c.265C>A	c.(265-267)CTC>ATC	p.L89I	MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Missense_Mutation_p.L89I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	Interaction with the MRN complex.|FHA.|Interaction with CHEK2.				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)|ovary(1)|kidney(1)	4						CAGTCTCGGAGGATAGGTGCC	0.522								Other_conserved_DNA_damage_response_genes					T	30681832	G	T	30681832	3	4	228	1	0	0	0	0	1	0	0	0	9403	1000	35	5	6056	5	MDC1	6	30681832	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3566613	30681832	140433235	335	115354											
MICB	4277	broad.mit.edu	37	chr6	31474135	31474135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaagaccaagacacactatCgcgctatgcaggcagactgc	10	12	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:31474135C>T	uc003ntn.3	+	3	657	c.541C>T	c.(541-543)CGC>TGC	p.R181C	MICB_uc011dnm.1_Missense_Mutation_p.R149C|MICB_uc003nto.3_Missense_Mutation_p.R138C	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	181	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						GACACACTATCGCGCTATGCA	0.537													T	31474135	C	T	31474135	3	4	228	1	0	0	0	0	1	0	0	0	9575	884	31	1	551	1	MICB	6	31474135	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	792303	31474135	139640932	336	115355											
BAT1	7919	broad.mit.edu	37	chr6	31500674	31500674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacttcgtctcatcatccacGaagatctccattggctgggg	9	12	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:31500674G>A	uc003ntt.2	-	7	1381	c.750C>T	c.(748-750)TTC>TTT	p.F250F	BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Silent_p.F57F|BAT1_uc003nts.2_Silent_p.F250F|BAT1_uc011dnn.1_Silent_p.F172F|BAT1_uc003ntu.2_Silent_p.F250F|BAT1_uc003ntv.2_Silent_p.F250F	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	250					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0						CATCATCCACGAAGATCTCCA	0.378													A	31500674	G	A	31500674	2	1	228	1	0	0	0	0	0	0	0	1	1318	1049	37	1		1	BAT1	6	31500674	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	26539	31500674	139614393	337	115356											
CFB	629	broad.mit.edu	37	chr6	31919130	31919131	+	Frame_Shift_Del	DEL	GA	GA	-													ccctacagaaaggcagctgtGagagagatgctcaatatgcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:31919129_31919130TGA>T	uc003nyj.4	+	15	2246_2247	c.1968_1969TGA>T	c.(1966-1971)tgtgagfs	p.C656fs	CFB_uc011dor.2_Frame_Shift_Del_p.C1158fs	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	656	Peptidase S1.				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						AAGGCAGCTGTGAGAGAGATGC	0.53													-	31919131	GA	-	31919130	7	5	228	1	0	1	0	1	0	0	0	0	3278	1291	45	0	2031	0	CFB	6	31919130	Frame_Shift_Del	DEL	GA	TCGA-D7-A4YV-01A-11D-A25D-08	418456	31919130	139195937	338	115357											
DAXX	1616	broad.mit.edu	37	chr6	33288600	33288600	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacctgatgcccacatctcGgaaggcatcctgagccatga	9	13	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:33288600G>A	uc003oec.2	-	3	1156	c.952C>T	c.(952-954)CGA>TGA	p.R318*	ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Nonsense_Mutation_p.R243*|DAXX_uc011dre.1_Nonsense_Mutation_p.R330*|DAXX_uc003oed.2_Nonsense_Mutation_p.R318*|DAXX_uc010juw.2_Nonsense_Mutation_p.R243*	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	318					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			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						CCCACATCTCGGAAGGCATCC	0.582			Mis|F|N		Pancreatic neuroendocrine tumors								A	33288600	G	A	33288600	4	1	228	1	0	0	0	0	0	1	0	0	4243	1124	39	1	1294	1	DAXX	6	33288600	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1369470	33288600	137826467	339	115358											
ZBTB9	221504	broad.mit.edu	37	chr6	33423758	33423758	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccttcgagcctaaggAggagatatcaggaagcggaa	14	8	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:33423758A>C	uc003oeq.2	+	2	1149	c.881A>C	c.(880-882)GAG>GCG	p.E294A		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGCCTAAGGAGGAGATATCA	0.537													C	33423758	A	C	33423758	3	2	228	1	0	0	0	0	1	0	0	0	17555	304	11	5	883	5	ZBTB9	6	33423758	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	135158	33423758	137691309	340	115359											
GRM4	2914	broad.mit.edu	37	chr6	34101001	34101001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcagcaggtccgggtcGttgttgatgcgatccagggc	16	9	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:34101001G>A	uc003oir.3	-	1	443	c.273C>T	c.(271-273)AAC>AAT	p.N91N	GRM4_uc011dsn.1_Silent_p.N91N|GRM4_uc010jvh.2_Silent_p.N91N|GRM4_uc010jvi.2_Translation_Start_Site|GRM4_uc010jvk.1_Silent_p.N10N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	91	Extracellular (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GGTCCGGGTCGTTGTTGATGC	0.622													A	34101001	G	A	34101001	2	1	228	1	0	0	0	0	0	0	0	1	6799	1136	40	1		1	GRM4	6	34101001	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	677243	34101001	137014066	341	115360											
SCUBE3	222663	broad.mit.edu	37	chr6	35210956	35210956	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcctggtagccggggagCgagcagagccgatggagtcc	19	11	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:35210956C>T	uc003okf.1	+	15	1858	c.1852C>T	c.(1852-1854)CGA>TGA	p.R618*	SCUBE3_uc003okg.1_Nonsense_Mutation_p.R617*|SCUBE3_uc003okh.1_Nonsense_Mutation_p.R505*	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	618					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AGCCGGGGAGCGAGCAGAGCC	0.622													T	35210956	C	T	35210956	4	4	228	1	0	0	0	0	0	1	0	0	13946	760	27	1	1910	1	SCUBE3	6	35210956	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1109955	35210956	135904111	342	115361											
ETV7	51513	broad.mit.edu	37	chr6	36339242	36339242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaccttgccaggccagGgtcatccaggtggccgaagt	14	13	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:36339242G>T	uc003omb.2	-	5	678	c.529C>A	c.(529-531)CCT>ACT	p.P177T	ETV7_uc003olz.1_Missense_Mutation_p.P177T|ETV7_uc003oma.1_Missense_Mutation_p.P122T|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.P122T|ETV7_uc010jwj.2_Missense_Mutation_p.P118T|ETV7_uc010jwh.2_Missense_Mutation_p.P96T|ETV7_uc010jwi.2_Intron|ETV7_uc011dtl.1_Missense_Mutation_p.P26T	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	177					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GCCAGGCCAGGGTCATCCAGG	0.642													T	36339242	G	T	36339242	3	4	228	1	0	0	0	0	1	0	0	0	5284	1232	43	5	512	5	ETV7	6	36339242	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1128286	36339242	134775825	343	115362											
DNAH8	1769	broad.mit.edu	37	chr6	38831683	38831683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctggggctgttttgaTgagtttaacagaattgaatt	12	4	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:38831683T>C	uc003ooe.1	+	43	6294	c.5694T>C	c.(5692-5694)GAT>GAC	p.D1898D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GCTGTTTTGATGAGTTTAACA	0.328													C	38831683	T	C	38831683	2	2	228	1	0	0	0	0	0	0	0	1	4607	1461	51	3		3	DNAH8	6	38831683	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2492441	38831683	132283384	344	115363											
FOXP4	116113	broad.mit.edu	37	chr6	41562613	41562613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgcacccacagaacgcCgtgcgccacaacctcagcct	7	19	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:41562613C>T	uc003oql.2	+	14	2000	c.1542C>T	c.(1540-1542)GCC>GCT	p.A514A	FOXP4_uc003oqm.2_Silent_p.A512A|FOXP4_uc003oqn.2_Silent_p.A501A	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	514	Fork-head.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CACAGAACGCCGTGCGCCACA	0.607											OREG0004067	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	41562613	C	T	41562613	2	4	228	1	0	0	0	0	0	0	0	1	6029	639	23	1		1	FOXP4	6	41562613	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2730930	41562613	129552454	345	115364											
UBR2	23304	broad.mit.edu	37	chr6	42641611	42641611	+	Frame_Shift_Del	DEL	G	G	-													agtggtgcaaggacatttttGtaaactttttgcatgtgagt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:42641610_42641610TG>T	uc011dur.2	+	36	4466	c.4168_4168TG>T	c.(4168-4170)tgtfs	p.C1390fs	UBR2_uc011dus.2_Frame_Shift_Del_p.C1035fs|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1390					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.C1390F(1)		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)			AGGACATTTTTGTAAACTTTT	0.358													-	42641611	G	-	42641611	7	5	228	1	0	1	0	1	0	0	0	0	16899	1377	48	0	4461	0	UBR2	6	42641611	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	1078998	42641611	128473456	346	115365											
ZNF318	24149	broad.mit.edu	37	chr6	43325106	43325106	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggcaagatccagttctcGaaactcagggtcgagaaacc	10	11	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:43325106G>A	uc003oux.2	-	3	1024	c.946C>T	c.(946-948)CGA>TGA	p.R316*	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	316	Potential.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGTTCTCGAAACTCAGGG	0.522													A	43325106	G	A	43325106	4	1	228	1	0	0	0	0	0	1	0	0	17833	1066	37	1	5925	1	ZNF318	6	43325106	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	683495	43325106	127789961	347	115366											
ENPP4	22875	broad.mit.edu	37	chr6	46107818	46107818	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggaaagactaaataaTattactatgtggctaaacaa	7	4	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:46107818T>C	uc003oxy.2	+	2	757	c.498T>C	c.(496-498)AAT>AAC	p.N166N		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	166	Extracellular (Potential).					integral to membrane	hydrolase activity			ovary(3)|skin(1)	4						GACTAAATAATATTACTATGT	0.408													C	46107818	T	C	46107818	2	2	228	1	0	0	0	0	0	0	0	1	5132	1403	49	3		3	ENPP4	6	46107818	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2782712	46107818	125007249	348	115367											
TNFRSF21	27242	broad.mit.edu	37	chr6	47254169	47254169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagggcaactgctgcagaCgcgcaggcttgtgttggtac	14	11	0	1	rs142206681	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:47254169C>T	uc003oyv.2	-	2	692	c.259G>A	c.(259-261)GTC>ATC	p.V87I		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	87	Extracellular (Potential).|TNFR-Cys 1.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			CTGCTGCAGACGCGCAGGCTT	0.537													T	47254169	C	T	47254169	3	4	228	1	0	0	0	0	1	0	0	0	16292	536	19	1	1728	1	TNFRSF21	6	47254169	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1146351	47254169	123860898	349	115368											
PGK2	5232	broad.mit.edu	37	chr6	49754076	49754076	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagtaatccttacaccattCttttgtgctttggccatgat	6	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:49754076C>A	uc003ozu.2	-	1	932	c.825G>T	c.(823-825)AAG>AAT	p.K275N		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	275					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					TTACACCATTCTTTTGTGCTT	0.428													A	49754076	C	A	49754076	3	1	228	1	0	0	0	0	1	0	0	0	11791	912	32	5	432	5	PGK2	6	49754076	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2499907	49754076	121360991	350	115369											
BMP5	653	broad.mit.edu	37	chr6	55623807	55623807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaacaaagcttaccagaGtctgaactatagcgtggttg	9	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:55623807G>A	uc003pcq.2	-	6	1923	c.1211C>T	c.(1210-1212)ACT>ATT	p.T404I	BMP5_uc011dxf.1_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	404					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTTACCAGAGTCTGAACTAT	0.348													A	55623807	G	A	55623807	3	1	228	1	0	0	0	0	1	0	0	0	1463	1029	36	4	161	4	BMP5	6	55623807	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5869731	55623807	115491260	351	115370											
EYS	346007	broad.mit.edu	37	chr6	66044985	66044985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgagaaaacatagatAccgatattcctgactgtctt	6	10	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:66044985A>G	uc011dxu.1	-	11	2192	c.1654T>C	c.(1654-1656)TAT>CAT	p.Y552H	EYS_uc003peq.2_Missense_Mutation_p.Y552H|EYS_uc003per.1_Missense_Mutation_p.Y552H	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	552					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AAACATAGATACCGATATTCC	0.353													G	66044985	A	G	66044985	3	3	228	1	0	0	0	0	1	0	0	0	5332	391	14	3	7874	3	EYS	6	66044985	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	10421178	66044985	105070082	352	115371											
TTK	7272	broad.mit.edu	37	chr6	80751906	80751906	+	Frame_Shift_Del	DEL	G	G	-													caagacttttgaaaaaaaaaGgggaaaaaaatgatttgcag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:80751906delG	uc003pjc.2	+	22	2635	c.2561delG	c.(2560-2562)AGGfs	p.R854fs	TTK_uc003pjb.3_Frame_Shift_Del_p.R853fs	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	854					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			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		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)		GAAAAAAAAAGGGGAAAAAAA	0.308													-	80751906	G	-	80751906	7	5	228	1	0	1	0	1	0	0	0	0	16717	1000	35	0	2643	0	TTK	6	80751906	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	14706921	80751906	90363161	353	115372											
DOPEY1	23033	broad.mit.edu	37	chr6	83845559	83845559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttatccaggagaggagaGtgacaagcatttcatgcaaa	11	7	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:83845559G>A	uc003pjs.1	+	20	3352	c.3092G>A	c.(3091-3093)AGT>AAT	p.S1031N	DOPEY1_uc011dyy.1_Missense_Mutation_p.S1022N|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1022N|DOPEY1_uc003pjt.2_5'Flank	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1031					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		GGAGAGGAGAGTGACAAGCAT	0.378													A	83845559	G	A	83845559	3	1	228	1	0	0	0	0	1	0	0	0	4707	1029	36	4	3162	4	DOPEY1	6	83845559	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3093653	83845559	87269508	354	115373											
RARS2	57038	broad.mit.edu	37	chr6	88234285	88234286	+	Frame_Shift_Del	DEL	AG	AG	-													ggctacaaacctggttgcatAgagagaagtcccatcacttc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:88234284_88234285TAG>T	uc003pme.3	-	10	1024_1025	c.964_965CTA>A	c.(964-966)tatfs	p.Y322fs	RARS2_uc003pmc.3_Frame_Shift_Del_p.Y147fs|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	322					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|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)		CCTGGTTGCATAGAGAGAAGTC	0.406													-	88234286	AG	-	88234285	7	5	228	1	0	1	0	1	0	0	0	0	13059	420	15	0	812	0	RARS2	6	88234285	Frame_Shift_Del	DEL	AG	TCGA-D7-A4YV-01A-11D-A25D-08	4388726	88234285	82880782	355	115374											
SFRS13B	135295	broad.mit.edu	37	chr6	89808605	89808605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttgctgaggtagaccGccttggtaatgatttggaac	12	9	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:89808605G>A	uc003pmy.3	-	5	672	c.478C>T	c.(478-480)CGG>TGG	p.R160W		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	serine-arginine repressor protein	160	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding				0						GAGGTAGACCGCCTTGGTAAT	0.438													A	89808605	G	A	89808605	3	1	228	1	0	0	0	0	1	0	0	0	14169	1086	38	1	311	1	SFRS13B	6	89808605	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1574320	89808605	81306462	356	115375											
UBE2J1	51465	broad.mit.edu	37	chr6	90052126	90052126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaactcctccatcaaaatCggagtctgggggccctctaa	8	12	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:90052126C>T	uc010kcb.2	-	4	327	c.154G>A	c.(154-156)GAT>AAT	p.D52N	UBE2J1_uc003pnc.2_Missense_Mutation_p.D52N	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	52	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CCATCAAAATCGGAGTCTGGG	0.403													T	90052126	C	T	90052126	3	4	228	1	0	0	0	0	1	0	0	0	16857	884	31	1	826	1	UBE2J1	6	90052126	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	243521	90052126	81062941	357	115376											
FUT9	10690	broad.mit.edu	37	chr6	96652014	96652014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcactgtaaatcttccacGattttgggaatcacatgcat	6	9	3	0	rs142793962		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:96652014G>A	uc003pop.3	+	3	1324	c.983G>A	c.(982-984)CGA>CAA	p.R328Q		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	328	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.R328Q(1)		skin(4)|ovary(1)	5		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)		AATCTTCCACGATTTTGGGAA	0.358													A	96652014	G	A	96652014	3	1	228	1	0	0	0	0	1	0	0	0	6111	1058	37	1	985	1	FUT9	6	96652014	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6599888	96652014	74463053	358	115377											
SOBP	55084	broad.mit.edu	37	chr6	107854724	107854724	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagtgggaatcaagcgCtattccctgagtatgggaag	13	7	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:107854724C>A	uc003prx.2	+	4	987	c.483C>A	c.(481-483)CGC>CGA	p.R161R	SOBP_uc003prw.1_Silent_p.R161R	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	161	FCS-type 1.						metal ion binding			ovary(1)	1		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)		GAATCAAGCGCTATTCCCTGA	0.428													A	107854724	C	A	107854724	2	1	228	1	0	0	0	0	0	0	0	1	14912	784	28	5		5	SOBP	6	107854724	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	11202710	107854724	63260343	359	115378											
REV3L	5980	broad.mit.edu	37	chr6	111654417	111654417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgattggaaatccaaaaCgagaacagagttgctataga	10	5	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:111654417C>T	uc003puy.3	-	23	8157	c.7834G>A	c.(7834-7836)GTT>ATT	p.V2612I	REV3L_uc003pux.3_Missense_Mutation_p.V2534I|REV3L_uc003puz.3_Missense_Mutation_p.V2534I|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2612					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		AAATCCAAAACGAGAACAGAG	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111654417	C	T	111654417	3	4	228	1	0	0	0	0	1	0	0	0	13240	536	19	1	1598	1	REV3L	6	111654417	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3799693	111654417	59460650	360	115379											
FYN	2534	broad.mit.edu	37	chr6	112024133	112024133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtttcaaactgggcccGggtggtaatgtagtatccac	12	8	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:112024133G>A	uc003pvj.2	-	7	992	c.652C>T	c.(652-654)CGG>TGG	p.R218W	FYN_uc003pvi.2_Missense_Mutation_p.R218W|FYN_uc003pvk.2_Missense_Mutation_p.R218W|FYN_uc003pvh.2_Missense_Mutation_p.R218W|FYN_uc010kdy.1_Missense_Mutation_p.R24W	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	218	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			lung(5)|central_nervous_system(1)|skin(1)	7		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)	AACTGGGCCCGGGTGGTAATG	0.408													A	112024133	G	A	112024133	3	1	228	1	0	0	0	0	1	0	0	0	6126	1115	39	1	1149	1	FYN	6	112024133	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	369716	112024133	59090934	361	115380											
NT5DC1	221294	broad.mit.edu	37	chr6	116542291	116542291	+	Frame_Shift_Del	DEL	A	A	-													atagttgtcctgaatctgtgAaaaaatggcttcgacagcta							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:116542290_116542290GA>G	uc003pwj.3	+	6	698	c.603_603GA>G	c.(601-603)gtgfs	p.V201fs	NT5DC1_uc003pwl.3_Frame_Shift_Del_p.V151fs	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	201							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)		CTGAATCTGTGAAAAAATGGC	0.328													-	116542291	A	-	116542291	7	5	228	1	0	1	0	1	0	0	0	0	10690	247	9	0	630	0	NT5DC1	6	116542291	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	4518158	116542291	54572776	362	115381											
ZUFSP	221302	broad.mit.edu	37	chr6	116967058	116967059	+	Frame_Shift_Ins	INS	-	-	T													tagtaagcataatgttcggtINStttttttctcttcaattcca					rs141299898	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:116967057_116967058G>GT	uc003pxf.2	-	8	1768_1769	c.1508_1509C>AC	c.(1507-1509)aacfs	p.N503fs	ZUFSP_uc010kef.2_Frame_Shift_Ins_p.N307fs	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	503						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ATAATGTTCGGTTTTTTTTCTC	0.337													T	116967059	-	T	116967058	7	5	228	1	0	1	1	0	0	0	0	0	18243	1725	60	0	236	0	ZUFSP	6	116967058	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	424767	116967058	54148009	363	115382											
C6orf174	387104	broad.mit.edu	37	chr6	127796885	127796885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccgcgagtcgtcgtcGctctccttcttgcccgcgtc	13	16	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:127796885G>A	uc003qbd.2	-	6	3151	c.2286C>T	c.(2284-2286)AGC>AGT	p.S762S	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	762						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		AGTCGTCGTCGCTCTCCTTCT	0.701													A	127796885	G	A	127796885	2	1	228	1	0	0	0	0	0	0	0	1	2345	1078	38	1		1	C6orf174	6	127796885	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	10829827	127796885	43318182	364	115383											
PERP	64065	broad.mit.edu	37	chr6	138428376	138428376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgctagactgcaaccaGccgcggccggccagcgcgat	14	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:138428376G>A	uc003qht.2	-	1	285	c.102C>T	c.(100-102)GGC>GGT	p.G34G		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	34					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		ACTGCAACCAGCCGCGGCCGG	0.692													A	138428376	G	A	138428376	2	1	228	1	0	0	0	0	0	0	0	1	11732	958	34	2		2	PERP	6	138428376	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	10631491	138428376	32686691	365	115384											
SYNE1	23345	broad.mit.edu	37	chr6	152708388	152708388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcaagcaggacgaacTtctctttcagacctggctgt	12	10	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:152708388T>G	uc010kiw.2	-	54	8908	c.8306A>C	c.(8305-8307)AAG>ACG	p.K2769T	SYNE1_uc003qot.3_Missense_Mutation_p.K2776T|SYNE1_uc003qou.3_Missense_Mutation_p.K2769T|SYNE1_uc010kjb.1_Missense_Mutation_p.K2752T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2769	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGACGAACTTCTCTTTCAG	0.483										HNSCC(10;0.0054)			G	152708388	T	G	152708388	3	3	228	1	0	0	0	0	1	0	0	0	15442	1609	56	5	18532	5	SYNE1	6	152708388	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	14280012	152708388	18406679	366	115385											
CLDN20	49861	broad.mit.edu	37	chr6	155596997	155596997	+	Frame_Shift_Del	DEL	C	C	-													acagccattgtacagctgcaCgggctctggatggactgtac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:155596996_155596996AC>A	uc003qql.2	+	1	523	c.143_143AC>A	c.(142-144)cacfs	p.H48fs	TFB1M_uc003qqj.4_Intron|TFB1M_uc003qqk.3_Intron|CLDN20_uc021zhh.1_Frame_Shift_Del_p.H48fs	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	Homo sapiens claudin 20 (CLDN20), mRNA.	48					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GTACAGCTGCACGGGCTCTGG	0.552													-	155596997	C	-	155596997	7	5	228	1	0	1	0	1	0	0	0	0	3482	535	19	0	146	0	CLDN20	6	155596997	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	2888609	155596997	15518070	367	115386											
PLG	5340	broad.mit.edu	37	chr6	161135924	161135924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggactctcagagcccacacGctcatggatacattccttcc	8	15	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:161135924G>T	uc003qtm.3	+	6	709	c.646G>T	c.(646-648)GCT>TCT	p.A216S		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	216	Kringle 2.				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			skin(3)|ovary(1)	4				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)	GAGCCCACACGCTCATGGATA	0.443													T	161135924	G	T	161135924	3	4	228	1	0	0	0	0	1	0	0	0	12086	1087	38	5	672	5	PLG	6	161135924	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5538927	161135924	9979143	368	115387											
MAP3K4	4216	broad.mit.edu	37	chr6	161523007	161523007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtcgtcactcaagccCcacggaggagcgagatggtg	14	12	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:161523007C>A	uc003qtn.2	+	18	3900	c.3758C>A	c.(3757-3759)CCC>CAC	p.P1253H	MAP3K4_uc010kkc.1_Missense_Mutation_p.P1249H|MAP3K4_uc003qto.2_Missense_Mutation_p.P1203H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.P706H|MAP3K4_uc003qtp.2_Missense_Mutation_p.P189H|MAP3K4_uc003qtq.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1253					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			ovary(3)|lung(3)|skin(2)|stomach(1)	9		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)		CACTCAAGCCCCACGGAGGAG	0.438													A	161523007	C	A	161523007	3	1	228	1	0	0	0	0	1	0	0	0	9252	623	22	5	3828	5	MAP3K4	6	161523007	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	387083	161523007	9592060	369	115388											
DLL1	28514	broad.mit.edu	37	chr6	170594674	170594675	+	Frame_Shift_Ins	INS	-	-	C													accctggttgcagaaaaggcINSccccccagccttcctggcag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:170594673_170594674G>GC	uc003qxm.3	-	5	1315_1316	c.845_846C>GC	c.(844-846)ggcfs	p.G282fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	282	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion 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)		TGCAGAAAAGGCCCCCCCAGCC	0.599													C	170594675	-	C	170594674	7	5	228	1	0	1	1	0	0	0	0	0	4566	739	26	0	1350	0	DLL1	6	170594674	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	9071667	170594674	520393	370	115389											
PSMB1	5689	broad.mit.edu	37	chr6	170858188	170858188	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatcttctccagcaaTtgccagtatagtactgagga	8	9	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr6:170858188T>A	uc011ehe.1	-	2	214	c.127A>T	c.(127-129)ATT>TTT	p.I43F	PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'UTR	NM_002793	NP_002784	P20618	PSB1_HUMAN	proteasome beta 1 subunit precursor	43					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	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	TCTCCAGCAATTGCCAGTATA	0.368													A	170858188	T	A	170858188	3	1	228	1	0	0	0	0	1	0	0	0	12674	1493	52	5	618	5	PSMB1	6	170858188	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	263514	170858188	256879	371	115390											
PRKAR1B	5575	broad.mit.edu	37	chr7	751062	751062	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtctttgaggacctgctgGatcccgtgcagctgcacgta	12	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:751062G>A	uc003siu.1	-	3	187	c.81C>T	c.(79-81)ATC>ATT	p.I27I	PRKAR1B_uc003siv.2_Silent_p.I27I|PRKAR1B_uc003siw.1_Silent_p.I27I	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	27	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|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				0		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)		GGACCTGCTGGATCCCGTGCA	0.632													A	751062	G	A	751062	2	1	228	1	0	0	0	0	0	0	0	1	12504	1164	41	4		4	PRKAR1B	7	751062	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		751062	158387601	372	115391											
AMZ1	155185	broad.mit.edu	37	chr7	2749293	2749293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacgtgccacgagctctGccaccttctgggcctgggga	14	14	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:2749293G>A	uc003smr.1	+	6	1152	c.791G>A	c.(790-792)TGC>TAC	p.C264Y	AMZ1_uc003sms.1_Silent_p.L207L|AMZ1_uc011jwa.1_Missense_Mutation_p.C13Y	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	264							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CACGAGCTCTGCCACCTTCTG	0.706											OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	2749293	G	A	2749293	3	1	228	1	0	0	0	0	1	0	0	0	596	1319	46	2	809	2	AMZ1	7	2749293	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1998231	2749293	156389370	373	115392											
FSCN1	6624	broad.mit.edu	37	chr7	5633137	5633137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgctacagcgtgcagacCgccgaccaccgcttcctgcg	11	18	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:5633137C>T	uc003sou.2	+	1	684	c.570C>T	c.(568-570)ACC>ACT	p.T190T		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	190					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GCGTGCAGACCGCCGACCACC	0.736													T	5633137	C	T	5633137	2	4	228	1	0	0	0	0	0	0	0	1	6067	639	23	1		1	FSCN1	7	5633137	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2883844	5633137	153505526	374	115393											
SP8	221833	broad.mit.edu	37	chr7	20824584	20824584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcaggtgcgaggaggcGccgctgctgaaggccgagtg	19	10	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:20824584G>A	uc003suy.2	-	3	1039	c.798C>T	c.(796-798)GGC>GGT	p.G266G	SP8_uc003suz.2_Silent_p.G284G	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						GCGAGGAGGCGCCGCTGCTGA	0.706													A	20824584	G	A	20824584	2	1	228	1	0	0	0	0	0	0	0	1	14970	1074	38	1		1	SP8	7	20824584	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	15191447	20824584	138314079	375	115394											
SP4	6671	broad.mit.edu	37	chr7	21470090	21470090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcagacgattcagaccaTccagcagcagcctttacaga	10	12	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:21470090T>C	uc003sva.2	+	3	1488	c.1307T>C	c.(1306-1308)ATC>ACC	p.I436T	SP4_uc003svb.2_Missense_Mutation_p.I123T	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	436					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						ATTCAGACCATCCAGCAGCAG	0.478													C	21470090	T	C	21470090	3	2	228	1	0	0	0	0	1	0	0	0	14966	1435	50	3	1317	3	SP4	7	21470090	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	645506	21470090	137668573	376	115395											
CCDC126	90693	broad.mit.edu	37	chr7	23651149	23651149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacacagtggatgtcgagaAcggtgcttctatggcaggat	14	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:23651149A>G	uc003swl.2	+	3	672	c.215A>G	c.(214-216)AAC>AGC	p.N72S	CCDC126_uc003swm.2_Missense_Mutation_p.N72S|CCDC126_uc003swn.2_Missense_Mutation_p.N72S	NM_138771	NP_620126	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126 precursor	72						extracellular region				ovary(1)|skin(1)	2						GATGTCGAGAACGGTGCTTCT	0.368													G	23651149	A	G	23651149	3	3	228	1	0	0	0	0	1	0	0	0	2762	43	2	3	217	3	CCDC126	7	23651149	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	2181059	23651149	135487514	377	115396											
CCDC129	223075	broad.mit.edu	37	chr7	31682938	31682938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagtgaaatcacacctTatgcaactgaccttgctcaa	6	12	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:31682938T>C	uc003tcj.1	+	11	2947	c.1954T>C	c.(1954-1956)TAT>CAT	p.Y652H	CCDC129_uc011kad.1_Missense_Mutation_p.Y662H|CCDC129_uc003tci.1_Missense_Mutation_p.Y503H|CCDC129_uc011kae.1_Missense_Mutation_p.Y678H|CCDC129_uc003tck.1_Missense_Mutation_p.Y560H	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	652											0						AATCACACCTTATGCAACTGA	0.488													C	31682938	T	C	31682938	3	2	228	1	0	0	0	0	1	0	0	0	2764	1754	61	3	1992	3	CCDC129	7	31682938	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	8031789	31682938	127455725	378	115397											
NPSR1	387129	broad.mit.edu	37	chr7	34867042	34867042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtcctcattgtgatcGcctggagcctgtcttttctg	11	12	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:34867042G>A	uc003teg.1	+	5	636	c.508G>A	c.(508-510)GCC>ACC	p.A170T	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.A170T|NPSR1_uc010kwt.1_Missense_Mutation_p.A17T|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.A104T|NPSR1_uc003tei.1_Missense_Mutation_p.A170T|NPSR1_uc010kww.1_Missense_Mutation_p.A159T|NPSR1_uc011kar.1_Missense_Mutation_p.A104T|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	170	Helical; Name=4; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	CATTGTGATCGCCTGGAGCCT	0.512													A	34867042	G	A	34867042	3	1	228	1	0	0	0	0	1	0	0	0	10600	1087	38	1	526	1	NPSR1	7	34867042	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3184104	34867042	124271621	379	115398											
NPSR1	387129	broad.mit.edu	37	chr7	34888209	34888209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcattcagaacctgccagCattgaatagtgccatcaacc	7	12	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:34888209C>T	uc003teg.1	+	8	1087	c.959C>T	c.(958-960)GCA>GTA	p.A320V	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.A320V|NPSR1_uc010kwt.1_Missense_Mutation_p.A167V|NPSR1_uc010kwu.1_Missense_Mutation_p.A110V|NPSR1_uc010kwv.1_Missense_Mutation_p.A254V|NPSR1_uc003tei.1_Missense_Mutation_p.A320V|NPSR1_uc010kww.1_Missense_Mutation_p.A309V|NPSR1_uc011kar.1_Missense_Mutation_p.A254V	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	320	Helical; Name=7; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	AACCTGCCAGCATTGAATAGT	0.498													T	34888209	C	T	34888209	3	4	228	1	0	0	0	0	1	0	0	0	10600	710	25	2	989	2	NPSR1	7	34888209	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	21167	34888209	124250454	380	115399											
ANLN	54443	broad.mit.edu	37	chr7	36447449	36447449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctattagtcctctgaaaaCgggggtatcgaaaccaattg	9	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:36447449C>T	uc003tff.2	+	5	1184	c.980C>T	c.(979-981)ACG>ATG	p.T327M	ANLN_uc011kaz.1_Missense_Mutation_p.T239M|ANLN_uc003tfg.2_Missense_Mutation_p.T327M|ANLN_uc010kxe.2_Missense_Mutation_p.T327M	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	327	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						CCTCTGAAAACGGGGGTATCG	0.393													T	36447449	C	T	36447449	3	4	228	1	0	0	0	0	1	0	0	0	694	536	19	1	998	1	ANLN	7	36447449	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1559240	36447449	122691214	381	115400											
INHBA	3624	broad.mit.edu	37	chr7	41729812	41729812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcacaggcaatccgaacGtccagggagctcttgccctg	11	14	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:41729812G>A	uc003thq.2	-	2	952	c.717C>T	c.(715-717)GAC>GAT	p.D239D	INHBA_uc003thr.2_Silent_p.D239D	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	239					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			lung(5)|ovary(1)	6						CAATCCGAACGTCCAGGGAGC	0.468										TSP Lung(11;0.080)			A	41729812	G	A	41729812	2	1	228	1	0	0	0	0	0	0	0	1	7741	1136	40	1		1	INHBA	7	41729812	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5282363	41729812	117408851	382	115401											
STK17A	9263	broad.mit.edu	37	chr7	43647881	43647881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtgaaatctttgaccAgtgtgttgcagacagagaag	15	5	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:43647881A>T	uc003tih.2	+	3	597	c.446A>T	c.(445-447)CAG>CTG	p.Q149L		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	149	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			skin(2)	2						ATCTTTGACCAGTGTGTTGCA	0.373													T	43647881	A	T	43647881	3	4	228	1	0	0	0	0	1	0	0	0	15289	188	7	5	456	5	STK17A	7	43647881	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1918069	43647881	115490782	383	115402											
ADCY1	107	broad.mit.edu	37	chr7	45614596	45614596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccggggttccgccgggGccgctggggggccagcgacc	19	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:45614596G>A	uc003tne.3	+	1	472	c.454G>A	c.(454-456)GCC>ACC	p.A152T	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	152					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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ttccgccggggccgctggggg	0.507													A	45614596	G	A	45614596	3	1	228	1	0	0	0	0	1	0	0	0	292	1203	42	2	456	2	ADCY1	7	45614596	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1966715	45614596	113524067	384	115403											
TNS3	64759	broad.mit.edu	37	chr7	47409180	47409180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttcttcctcaccttcgCgtaaaggctgccatcgacag	8	14	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:47409180C>T	uc003tnv.2	-	17	1430	c.1063G>A	c.(1063-1065)GCG>ACG	p.A355T	TNS3_uc003tnw.2_Missense_Mutation_p.A355T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	355						focal adhesion	protein binding			ovary(4)	4						CTCACCTTCGCGTAAAGGCTG	0.607													T	47409180	C	T	47409180	3	4	228	1	0	0	0	0	1	0	0	0	16341	768	27	1	3334	1	TNS3	7	47409180	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1794584	47409180	111729483	385	115404											
SUMF2	25870	broad.mit.edu	37	chr7	56136300	56136300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgaaaccctttgccatcGacatatttcctgtcaccaac	5	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:56136300G>A	uc003trv.2	+	2	281	c.250G>A	c.(250-252)GAC>AAC	p.D84N	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Missense_Mutation_p.D84N|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.D84N|SUMF2_uc011kcx.1_Missense_Mutation_p.D84N|SUMF2_uc003trt.2_Intron|SUMF2_uc011kcy.1_Missense_Mutation_p.D84N|SUMF2_uc011kcz.1_Missense_Mutation_p.D84N|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_5'UTR|SUMF2_uc003trx.2_RNA	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	65						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTTGCCATCGACATATTTCC	0.453													A	56136300	G	A	56136300	3	1	228	1	0	0	0	0	1	0	0	0	15383	1058	37	1	256	1	SUMF2	7	56136300	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8727120	56136300	103002363	386	115405											
ZNF479	90827	broad.mit.edu	37	chr7	57188741	57188741	+	Frame_Shift_Del	DEL	T	T	-													tcacccacacttttacagcaTtttttaaattgtaatttctc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:57188740_57188740AT>A	uc010kzo.3	-	4	653	c.382_382AT>T	c.(382-384)tgcfs	p.C128fs		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	128					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)			CTTTTACAGCATTTTTTAAAT	0.363													-	57188741	T	-	57188741	7	5	228	1	0	1	0	1	0	0	0	0	17930	1490	52	0	1197	0	ZNF479	7	57188741	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	1052441	57188741	101949922	387	115406											
GUSB	2990	broad.mit.edu	37	chr7	65444796	65444796	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatggcgatagtgattcGgagccgggagggcaggggcc	20	7	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:65444796G>A	uc003tun.2	-	3	575	c.499C>T	c.(499-501)CGA>TGA	p.R167*	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Intron	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	167					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						ATAGTGATTCGGAGCCGGGAG	0.622													A	65444796	G	A	65444796	4	1	228	1	0	0	0	0	0	1	0	0	6902	1124	39	1	1496	1	GUSB	7	65444796	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8256055	65444796	93693867	388	115407											
AUTS2	26053	broad.mit.edu	37	chr7	70255373	70255373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcagccccctcccgggCggagagcgcttcccgtaccc	12	19	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:70255373C>T	uc003tvw.3	+	19	3914	c.3171C>T	c.(3169-3171)GGC>GGT	p.G1057G	AUTS2_uc003tvx.3_Silent_p.G1033G|AUTS2_uc011keg.1_Silent_p.G509G	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1057										ovary(2)|central_nervous_system(1)	3		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)		CCCTCCCGGGCGGAGAGCGCT	0.627													T	70255373	C	T	70255373	2	4	228	1	0	0	0	0	0	0	0	1	1225	755	27	1		1	AUTS2	7	70255373	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4810577	70255373	88883290	389	115408											
POM121	9883	broad.mit.edu	37	chr7	72418920	72418920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaagggacccaataacCtttcaaaacgcaaactgctg	9	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:72418920C>A	uc010lam.1	+	16	3952	c.2911C>A	c.(2911-2913)CTT>ATT	p.L971I	NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_3'UTR|NSUN5P2_uc003twn.2_3'UTR|NSUN5P2_uc003two.2_3'UTR|NSUN5P2_uc003twq.2_3'UTR|NSUN5P2_uc010lan.1_3'UTR|NSUN5P2_uc003twp.2_3'UTR	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				ACCCAATAACCTTTCAAAACG	0.527													A	72418920	C	A	72418920	3	1	228	1	0	0	0	0	1	0	0	0	12239	696	24	5		5	POM121	7	72418920	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2163547	72418920	86719743	390	115409											
NCF1	653361	broad.mit.edu	37	chr7	74197373	74197373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctctgtccacgggggaCgtggtggaggtcgtagagaa	18	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:74197373C>T	uc003ubb.2	+	6	613	c.543C>T	c.(541-543)GAC>GAT	p.D181D	NCF1_uc010lbs.1_Silent_p.D181D|NCF1_uc011kfh.1_Missense_Mutation_p.R101C	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	181	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			skin(1)	1						CCACGGGGGACGTGGTGGAGG	0.642													T	74197373	C	T	74197373	2	4	228	1	0	0	0	0	0	0	0	1	10216	535	19	1		1	NCF1	7	74197373	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1778453	74197373	84941290	391	115410											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						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)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	228	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	12345150	86542523	72596140	392	115411											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258228	87258228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcgcccgcaatgctgCggtggagaggaggaacctga	16	11	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:87258228C>T	uc003ujb.2	+	1	500	c.89C>T	c.(88-90)GCG>GTG	p.A30V	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.A30V|RUNDC3B_uc011khe.1_Missense_Mutation_p.A30V|RUNDC3B_uc003ujc.2_Missense_Mutation_p.A30V	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	30										skin(1)	1	Esophageal squamous(14;0.00164)					CGCAATGCTGCGGTGGAGAGG	0.726													T	87258228	C	T	87258228	3	4	228	1	0	0	0	0	1	0	0	0	13745	768	27	1	91	1	RUNDC3B	7	87258228	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	715705	87258228	71880435	393	115412											
CLDN12	9069	broad.mit.edu	37	chr7	90042012	90042012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgtcgggatgtccacGcagccacagtcctttccttc	11	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:90042012G>A	uc003ukp.2	+	5	658	c.22G>A	c.(22-24)GCA>ACA	p.A8T	CLDN12_uc003ukq.2_Missense_Mutation_p.A8T|CLDN12_uc010leq.2_Missense_Mutation_p.A8T|CLDN12_uc003ukr.2_Missense_Mutation_p.A8T|CLDN12_uc003uks.2_Missense_Mutation_p.A8T	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	8	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGATGTCCACGCAGCCACAGT	0.522													A	90042012	G	A	90042012	3	1	228	1	0	0	0	0	1	0	0	0	3474	1087	38	1	24	1	CLDN12	7	90042012	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2783784	90042012	69096651	394	115413											
LMTK2	22853	broad.mit.edu	37	chr7	97823250	97823250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggaagccagaaagaGccagccagatgaaagttgtc	12	10	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:97823250G>A	uc003upd.1	+	11	3766	c.3473G>A	c.(3472-3474)AGC>AAC	p.S1158N		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1158					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					GCCAGAAAGAGCCAGCCAGAT	0.592													A	97823250	G	A	97823250	3	1	228	1	0	0	0	0	1	0	0	0	8859	971	34	2	3515	2	LMTK2	7	97823250	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7781238	97823250	61315413	395	115414											
TAF6	6878	broad.mit.edu	37	chr7	99709365	99709368	+	Frame_Shift_Del	DEL	AGAG	AGAG	-													actcacgtatttttctagatAgagcgtggggttgtccatca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:99709365_99709368delAGAG	uc003uti.2	-	9	964_967	c.883_886delCTCT	c.(883-888)CTCTATfs	p.L295fs	TAF6_uc003utg.2_Frame_Shift_Del_p.L217fs|TAF6_uc003uth.2_Frame_Shift_Del_p.L352fs|TAF6_uc003utk.2_Frame_Shift_Del_p.L295fs|TAF6_uc011kji.1_Frame_Shift_Del_p.L332fs|TAF6_uc003utj.2_Frame_Shift_Del_p.L285fs|TAF6_uc003utl.2_Frame_Shift_Del_p.L295fs|TAF6_uc003utm.2_Frame_Shift_Del_p.L295fs|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	295_296					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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTTCTAGATAGAGCGTGGGGTTG	0.51													-	99709368	AGAG	-	99709365	7	5	228	1	0	1	0	1	0	0	0	0	15527	420	15	0	1175	0	TAF6	7	99709365	Frame_Shift_Del	DEL	AGAG	TCGA-D7-A4YV-01A-11D-A25D-08	1886115	99709365	59429298	396	115415											
AGFG2	3268	broad.mit.edu	37	chr7	100153232	100153232	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtttcttccacctacaGgccagacaccttcccaagga	6	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100153232G>A	uc003uvf.2	+	6	888	c.752_splice	c.e6-1	p.G251_splice	AGFG2_uc003uvg.1_Splice_Site_p.W144_splice|AGFG2_uc010lgy.2_Splice_Site_p.A113_splice	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						TCCACCTACAGGCCAGACACC	0.338													A	100153232	G	A	100153232	5	1	228	1	0	0	0	0	0	0	1	0	381	1014	35	4	773	4	AGFG2	7	100153232	Splice_Site	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	443867	100153232	58985431	397	115416											
ZAN	7455	broad.mit.edu	37	chr7	100350136	100350136	+	Frame_Shift_Del	DEL	C	C	-													ctccacagaagagcccaccaCccccactgaggagaccacca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100350135_100350135AC>A	uc003uwj.3	+	13	2572	c.2407_2407AC>A	c.(2407-2409)accfs	p.T803fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.T803fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	803	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			AGAGCCCACCACCCCCACTGA	0.527													-	100350136	C	-	100350136	7	5	228	1	0	1	0	1	0	0	0	0	17510	507	18	0	2458	0	ZAN	7	100350136	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	196904	100350136	58788527	398	115417											
SLC12A9	56996	broad.mit.edu	37	chr7	100457805	100457805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggccaaggttgtgtcccGagggggaaacccctgggcag	16	12	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100457805G>A	uc003uwp.2	+	9	1311	c.1169G>A	c.(1168-1170)CGA>CAA	p.R390Q	SLC12A9_uc003uwq.2_Missense_Mutation_p.R301Q|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.R126Q|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Missense_Mutation_p.R126Q|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	390	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTGTGTCCCGAGGGGGAAAC	0.597													A	100457805	G	A	100457805	3	1	228	1	0	0	0	0	1	0	0	0	14390	1058	37	1	1199	1	SLC12A9	7	100457805	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	107669	100457805	58680858	399	115418											
MUC17	140453	broad.mit.edu	37	chr7	100684965	100684965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacaccctttcaacaactcCtgtggactccaacactctgg	5	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:100684965C>A	uc003uxp.1	+	3	10321	c.10268C>A	c.(10267-10269)CCT>CAT	p.P3423H	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3423	Extracellular (Potential).|55.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTGGACTCC	0.502													A	100684965	C	A	100684965	3	1	228	1	0	0	0	0	1	0	0	0	9974	681	24	5	10278	5	MUC17	7	100684965	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	227160	100684965	58453698	400	115419											
CUX1	1523	broad.mit.edu	37	chr7	101845023	101845023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaaaaatgaggtgggcCgcagcggtgcctggaaggac	18	7	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:101845023C>T	uc003uyx.3	+	18	2484	c.2446C>T	c.(2446-2448)CGC>TGC	p.R816C	CUX1_uc003uys.3_Missense_Mutation_p.R827C|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	816					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TGAGGTGGGCCGCAGCGGTGC	0.672													T	101845023	C	T	101845023	3	4	228	1	0	0	0	0	1	0	0	0	4064	652	23	1	2583	1	CUX1	7	101845023	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1160058	101845023	57293640	401	115420											
SLC26A4	5172	broad.mit.edu	37	chr7	107340600	107340600	+	Frame_Shift_Del	DEL	A	A	-													atggcaatgtcgatggttttAaaaaatgtatcaagtccaca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:107340599_107340599TA>T	uc003vep.3	+	14	1910	c.1686_1686TA>T	c.(1684-1686)tttfs	p.F562fs	SLC26A4_uc011kmb.2_Frame_Shift_Del_p.F149fs|SLC26A4_uc011kmc.2_Frame_Shift_Del_p.F123fs|SLC26A4_uc011kmd.2_Frame_Shift_Del_p.F131fs	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	562	STAS.				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						TCGATGGTTTTAAAAAATGTA	0.338									Pendred syndrome				-	107340600	A	-	107340600	7	5	228	1	0	1	0	1	0	0	0	0	14519	363	13	0	1741	0	SLC26A4	7	107340600	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	5495577	107340600	51798063	402	115421											
C7orf53	286006	broad.mit.edu	37	chr7	112127027	112127027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaactcaggaaatggaagCcggagtctgttttttgtggg	13	6	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:112127027C>T	uc011kmq.1	+	3	312	c.177C>T	c.(175-177)AGC>AGT	p.S59S	C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Silent_p.S59S	NM_001134468	NP_001127940	Q8N8F7	CG053_HUMAN	hypothetical protein LOC286006	59						integral to membrane				ovary(1)	1						GAAATGGAAGCCGGAGTCTGT	0.418													T	112127027	C	T	112127027	2	4	228	1	0	0	0	0	0	0	0	1	2402	738	26	2		2	C7orf53	7	112127027	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4786427	112127027	47011636	403	115422											
ASZ1	136991	broad.mit.edu	37	chr7	117067496	117067496	+	Nonsense_Mutation	SNP	G	G	A													gccagccactggcaggcctcGcagcgcgctcgccgccatgc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:117067496G>A	uc003vjb.2	-	1	82	c.19C>T	c.(19-21)CGA>TGA	p.R7*	ASZ1_uc011kno.1_Nonsense_Mutation_p.R7*|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	7					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGCAGGCCTCGCAGCGCGCTC	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	117067496	G	A	117067496	4	1	228	1	0	0	0	0	0	1	0	0	1069	1095	38	1	1460	1	ASZ1	7	117067496	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4940469	117067496	42071167	404	115423	544	2									
ASZ1	136991	broad.mit.edu	37	chr7	117067501	117067501	+	Missense_Mutation	SNP	G	G	C													ccactggcaggcctcgcagcGcgctcgccgccatgccagcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:117067501G>C	uc003vjb.2	-	1	77	c.14C>G	c.(13-15)GCG>GGG	p.A5G	ASZ1_uc011kno.1_Missense_Mutation_p.A5G|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	5					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GCCTCGCAGCGCGCTCGCCGC	0.687											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	117067501	G	C	117067501	3	2	228	1	0	0	0	0	1	0	0	0	1069	1087	38	5	1465	5	ASZ1	7	117067501	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5	117067501	42071162	405	115424	544	2									
ASB15	142685	broad.mit.edu	37	chr7	123269054	123269054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggttttgatgtcaacActctacttgctgaccacatt	6	9	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:123269054A>G	uc003vku.1	+	10	1298	c.1006A>G	c.(1006-1008)ACT>GCT	p.T336A	ASB15_uc003vkw.1_Missense_Mutation_p.T336A	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	336	ANK 6.				intracellular signal transduction					skin(2)|lung(1)	3						TGATGTCAACACTCTACTTGC	0.433													G	123269054	A	G	123269054	3	3	228	1	0	0	0	0	1	0	0	0	1019	159	6	3	1032	3	ASB15	7	123269054	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	6201553	123269054	35869609	406	115425											
ASB15	142685	broad.mit.edu	37	chr7	123269134	123269134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcgtttctaataatgaCgttcattgcacagaagtcct	8	8	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:123269134C>T	uc003vku.1	+	10	1378	c.1086C>T	c.(1084-1086)GAC>GAT	p.D362D	ASB15_uc003vkw.1_Silent_p.D362D	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	362	ANK 7.				intracellular signal transduction					skin(2)|lung(1)	3						CTAATAATGACGTTCATTGCA	0.438													T	123269134	C	T	123269134	2	4	228	1	0	0	0	0	0	0	0	1	1019	535	19	1		1	ASB15	7	123269134	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	80	123269134	35869529	407	115426											
FLNC	2318	broad.mit.edu	37	chr7	128470896	128470896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacctcagcgacgggctcCggctcatcgcgctgctcgag	14	16	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:128470896C>T	uc003vnz.3	+	1	414	c.205C>T	c.(205-207)CGG>TGG	p.R69W	FLNC_uc003voa.3_Missense_Mutation_p.R69W	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	69	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CGACGGGCTCCGGCTCATCGC	0.622													T	128470896	C	T	128470896	3	4	228	1	0	0	0	0	1	0	0	0	5935	643	23	1	207	1	FLNC	7	128470896	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5201762	128470896	30667767	408	115427											
CPA4	51200	broad.mit.edu	37	chr7	129948150	129948150	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtggctttttcagaacCgattatggaggaagacgcgg	14	7	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:129948150C>T	uc003vpr.2	+	8	753	c.706C>T	c.(706-708)CGA>TGA	p.R236*	CPA4_uc011kpd.1_Nonsense_Mutation_p.R203*|CPA4_uc011kpe.1_Nonsense_Mutation_p.R132*	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	236					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTTTCAGAACCGATTATGGAG	0.557													T	129948150	C	T	129948150	4	4	228	1	0	0	0	0	0	1	0	0	3792	644	23	1	736	1	CPA4	7	129948150	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1477254	129948150	29190513	409	115428											
AKR1B10	57016	broad.mit.edu	37	chr7	134223007	134223007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagtctgtgacaccagCacgcattgttgagaacattc	8	13	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:134223007C>T	uc003vrr.2	+	8	1123	c.803C>T	c.(802-804)GCA>GTA	p.A268V		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	268	NADP.				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						GTGACACCAGCACGCATTGTT	0.532													T	134223007	C	T	134223007	3	4	228	1	0	0	0	0	1	0	0	0	467	710	25	2	833	2	AKR1B10	7	134223007	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4274857	134223007	24915656	410	115429											
C7orf49	78996	broad.mit.edu	37	chr7	134851523	134851523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcctcactgctgctcCcagaacttgtgtgaggcgac	9	15	2	2	rs10237382		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:134851523C>T	uc003vsl.2	-	4	581	c.314G>A	c.(313-315)GGG>GAG	p.G105E	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Missense_Mutation_p.G76E|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.G104E|C7orf49_uc003vso.2_Missense_Mutation_p.G50E	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	105						cytoplasm				large_intestine(1)|ovary(1)	2						ACTGCTGCTCCCAGAACTTGT	0.652													T	134851523	C	T	134851523	3	4	228	1	0	0	0	0	1	0	0	0	2398	623	22	4	163	4	C7orf49	7	134851523	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	628516	134851523	24287140	411	115430											
TRIM24	8805	broad.mit.edu	37	chr7	138269680	138269680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaaagcattgaagaacGccagttgcttaaataatatg	7	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:138269680G>A	uc003vuc.2	+	19	3352	c.3137G>A	c.(3136-3138)CGC>CAC	p.R1046H	TRIM24_uc003vub.2_Missense_Mutation_p.R1012H	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	1046					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			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						ATTGAAGAACGCCAGTTGCTT	0.343													A	138269680	G	A	138269680	3	1	228	1	0	0	0	0	1	0	0	0	16495	1087	38	1	3211	1	TRIM24	7	138269680	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3418157	138269680	20868983	412	115431											
JHDM1D	80853	broad.mit.edu	37	chr7	139833448	139833448	+	Frame_Shift_Del	DEL	T	T	-													atgtctgtgccagttcctccTttttttcactggatttttaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:139833447_139833447CT>C	uc003vvm.3	-	2	294	c.290_290AG>G	c.(289-291)aggfs	p.R97fs		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	97	Linker.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CCAGTTCCTCCTTTTTTTCAC	0.338													-	139833448	T	-	139833448	7	5	228	1	0	1	0	1	0	0	0	0	7948	1608	56	0	2608	0	JHDM1D	7	139833448	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	1563768	139833448	19305215	413	115432											
MGAM	8972	broad.mit.edu	37	chr7	141721431	141721431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgccccacgaacacGtgcagtccttcagtggaaat	10	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:141721431G>A	uc003vwy.2	+	6	658	c.604G>A	c.(604-606)GTG>ATG	p.V202M		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	202	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCACGAACACGTGCAGTCCTT	0.438													A	141721431	G	A	141721431	3	1	228	1	0	0	0	0	1	0	0	0	9541	1145	40	1	622	1	MGAM	7	141721431	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1887983	141721431	17417232	414	115433											
TRPV6	55503	broad.mit.edu	37	chr7	142583219	142583219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagaacttgctccataGgcagagaattagccctttct	8	11	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:142583219G>T	uc003wbx.1	-	1	259	c.43C>A	c.(43-45)CTA>ATA	p.L15I		NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	15	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					TTGCTCCATAGGCAGAGAATT	0.617													T	142583219	G	T	142583219	3	4	228	1	0	0	0	0	1	0	0	0	16597	991	35	5	2194	5	TRPV6	7	142583219	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	861788	142583219	16555444	415	115434											
ZNF786	136051	broad.mit.edu	37	chr7	148767808	148767808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagctgcgccttcaggcGgaaactcttgtcacacttgg	12	12	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:148767808G>A	uc003wfh.2	-	4	2193	c.2056C>T	c.(2056-2058)CGC>TGC	p.R686C	ZNF786_uc011kuk.1_Missense_Mutation_p.R649C|ZNF786_uc003wfi.2_Missense_Mutation_p.R600C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	686	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCCTTCAGGCGGAAACTCTTG	0.557													A	148767808	G	A	148767808	3	1	228	1	0	0	0	0	1	0	0	0	18155	1116	39	1	296	1	ZNF786	7	148767808	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6184589	148767808	10370855	416	115435											
ZNF786	136051	broad.mit.edu	37	chr7	148768294	148768295	+	Missense_Mutation	DNP	GC	GC	AA													cactctcaggtgctcacggaGcttgcactggtgggtgaagc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:148768294_148768295GC>AA	uc003wfh.2	-	4	1706_1707	c.1569_1570GC>TT	c.(1567-1572)AAGCTC>AATTTC	p.523_524KL>NF	ZNF786_uc011kuk.1_Missense_Mutation_p.486_487KL>NF|ZNF786_uc003wfi.2_Missense_Mutation_p.437_438KL>NF	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	523_524	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTCACGGAGCTTGCACTGGT	0.653													AA	148768295	GC	AA	148768294	3	1	228	1	0	0	0	0	1	0	0	0	18155	971	34	2	782	2	ZNF786	7	148768294	Missense_Mutation	DNP	GC	TCGA-D7-A4YV-01A-11D-A25D-08	486	148768294	10370369	417	115436											
ZNF777	27153	broad.mit.edu	37	chr7	149129661	149129661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcccctccttgatgtGgttgcgctggtggatgatga	16	8	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:149129661G>A	uc003wfv.2	-	6	1865	c.1702C>T	c.(1702-1704)CAC>TAC	p.H568Y		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	568	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCCTTGATGTGGTTGCGCTGG	0.647													A	149129661	G	A	149129661	3	1	228	1	0	0	0	0	1	0	0	0	18147	1348	47	4	797	4	ZNF777	7	149129661	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	361367	149129661	10009002	418	115437											
GIMAP8	155038	broad.mit.edu	37	chr7	150164346	150164346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgttggagctccttcGcaaggttgagtctttggtga	14	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:150164346G>A	uc003whj.2	+	2	890	c.560G>A	c.(559-561)CGC>CAC	p.R187H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	187						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGCTCCTTCGCAAGGTTGAG	0.433													A	150164346	G	A	150164346	3	1	228	1	0	0	0	0	1	0	0	0	6385	1087	38	1	562	1	GIMAP8	7	150164346	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1034685	150164346	8974317	419	115438											
ATG9B	285973	broad.mit.edu	37	chr7	150721322	150721322	+	Frame_Shift_Del	DEL	G	G	-													gtgggaggggaaaatgaggaGggggagcttcttgtatgagg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:150721322delG	uc011kvc.1	-	1	265	c.189delC	c.(187-189)CCCfs	p.P63fs	ATG9B_uc003wig.3_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	63	Pro-rich.|Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAATGAGGAGGGGGAGCTTC	0.632													-	150721322	G	-	150721322	7	5	228	1	0	1	0	1	0	0	0	0	1103	987	35	0	2636	0	ATG9B	7	150721322	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	556976	150721322	8417341	420	115439											
ABCF2	10061	broad.mit.edu	37	chr7	150915962	150915962	+	Splice_Site	DEL	A	A	-													aaacctcgcaatgtagttctAaaaaagaccaaagagagctt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:150915961_150915961TA>T	uc003wjo.1	-	9	1129	c.1018_splice	c.e9-1	p.N340_splice	ABCF2_uc003wjp.3_Splice_Site_p.N340_splice	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	340						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATGTAGTTCTAAAAAAGACC	0.488													-	150915962	A	-	150915962	8	5	228	1	0	1	0	1	0	0	1	0	66	377	13	0		0	ABCF2	7	150915962	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	194640	150915962	8222701	421	115440											
MLL3	58508	broad.mit.edu	37	chr7	152007084	152007084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacaacagctttgtccacGttcactaacaatggttcttc	7	11	2	1	rs143544942	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:152007084G>A	uc003wla.2	-	6	1035	c.816C>T	c.(814-816)AAC>AAT	p.N272N		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	272					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTTTGTCCACGTTCACTAACA	0.393			N		medulloblastoma								A	152007084	G	A	152007084	2	1	228	1	0	0	0	0	0	0	0	1	9622	1136	40	1		1	MLL3	7	152007084	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1091122	152007084	7131579	422	115441											
DPP6	1804	broad.mit.edu	37	chr7	154585857	154585857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacctggctgaaccgggCgcagaacgtgtccatcctca	12	14	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:154585857C>T	uc003wlk.2	+	11	1334	c.1205C>T	c.(1204-1206)GCG>GTG	p.A402V	DPP6_uc003wli.2_Missense_Mutation_p.A338V|DPP6_uc003wlm.2_Missense_Mutation_p.A340V|DPP6_uc011kvq.1_Missense_Mutation_p.A295V	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	402	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			CTGAACCGGGCGCAGAACGTG	0.632													T	154585857	C	T	154585857	3	4	228	1	0	0	0	0	1	0	0	0	4730	768	27	1	1363	1	DPP6	7	154585857	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2578773	154585857	4552806	423	115442											
DPP6	1804	broad.mit.edu	37	chr7	154598810	154598810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcatggacttcttcctgCtcaagtgcgaaggtcagctc	10	11	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr7:154598810C>T	uc003wlk.2	+	16	1783	c.1654C>T	c.(1654-1656)CTC>TTC	p.L552F	DPP6_uc003wli.2_Missense_Mutation_p.L488F|DPP6_uc003wlm.2_Missense_Mutation_p.L490F|DPP6_uc011kvq.1_Missense_Mutation_p.L445F	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	552	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			CTTCTTCCTGCTCAAGTGCGA	0.607													T	154598810	C	T	154598810	3	4	228	1	0	0	0	0	1	0	0	0	4730	797	28	2	1832	2	DPP6	7	154598810	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	12953	154598810	4539853	424	115443											
ARHGEF10	9639	broad.mit.edu	37	chr8	1893747	1893747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcagggtccacgctccGcctttttcacacggaaactc	7	17	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:1893747G>A	uc003wpr.2	+	27	3501	c.3323G>A	c.(3322-3324)CGC>CAC	p.R1108H	ARHGEF10_uc003wps.2_Missense_Mutation_p.R1070H|ARHGEF10_uc010lre.2_Missense_Mutation_p.R759H	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1133					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			large_intestine(1)	1		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)		TCCACGCTCCGCCTTTTTCAC	0.622													A	1893747	G	A	1893747	3	1	228	1	0	0	0	0	1	0	0	0	894	1087	38	1	3425	1	ARHGEF10	8	1893747	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		1893747	144470275	425	115444											
PINX1	54984	broad.mit.edu	37	chr8	10623027	10623027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctctttttgggcttcaGggtgaagtcccggccctcag	11	13	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:10623027G>A	uc003wth.2	-	7	904	c.871C>T	c.(871-873)CTG>TTG	p.L291L	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	291	TBM.|Telomerase inhibitory domain (TID).			L->A: Abolishes interaction with TERF1.	mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTGGGCTTCAGGGTGAAGTCC	0.537													A	10623027	G	A	10623027	2	1	228	1	0	0	0	0	0	0	0	1	11933	991	35	4		4	PINX1	8	10623027	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8729280	10623027	135740995	426	115445											
XKR6	286046	broad.mit.edu	37	chr8	11058331	11058331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggctctgcaccagcagcGacggcaccagcacgaagaag	12	14	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:11058331G>A	uc003wtk.1	-	1	545	c.518C>T	c.(517-519)TCG>TTG	p.S173L		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	173	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CACCAGCAGCGACGGCACCAG	0.692													A	11058331	G	A	11058331	3	1	228	1	0	0	0	0	1	0	0	0	17432	1059	37	1	1419	1	XKR6	8	11058331	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	435304	11058331	135305691	427	115446											
MTMR9	66036	broad.mit.edu	37	chr8	11162509	11162510	+	Frame_Shift_Ins	INS	-	-	A													agtactaagctattaccacaINSaaaaaaatgggatggtaagt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:11162508_11162509C>CA	uc003wtm.3	+	3	974_975	c.576_577C>CA	c.(574-579)cacaaafs	p.H192fs	MTMR9_uc010lrx.3_Frame_Shift_Ins_p.H85fs|MTMR9_uc011kxa.2_Frame_Shift_Ins_p.H107fs	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	192	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GCTATTACCACAAAAAAAATGG	0.455													A	11162510	-	A	11162509	7	5	228	1	0	1	1	0	0	0	0	0	9950	131	5	0	591	0	MTMR9	8	11162509	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	104178	11162509	135201513	428	115447											
MTUS1	57509	broad.mit.edu	37	chr8	17612310	17612310	+	Frame_Shift_Del	DEL	T	T	-													aggacactgtctctctcagaTtttggcccatttccttgtgc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:17612309_17612309AT>A	uc003wxv.3	-	1	1482	c.1008_1008AT>T	c.(1006-1008)aatfs	p.N336fs	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Frame_Shift_Del_p.N336fs|MTUS1_uc010lsz.3_Frame_Shift_Del_p.N336fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	336						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)		TCTCTCTCAGATTTTGGCCCA	0.418													-	17612310	T	-	17612310	7	5	228	1	0	1	0	1	0	0	0	0	9965	1493	52	0	3180	0	MTUS1	8	17612310	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	6449801	17612310	128751712	429	115448											
FGL1	2267	broad.mit.edu	37	chr8	17722224	17722224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttttagccgtgtaggggccGctgtagtatacaccattcag	12	9	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:17722224G>T	uc003wxx.2	-	9	1140	c.816C>A	c.(814-816)AGC>AGA	p.S272R	FGL1_uc003wxy.2_Missense_Mutation_p.S272R|FGL1_uc003wxz.2_Missense_Mutation_p.S271R|FGL1_uc003wya.2_Missense_Mutation_p.S272R|FGL1_uc003wyb.2_Missense_Mutation_p.S272R|FGL1_uc003wyc.2_Missense_Mutation_p.S272R|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.S322R|FGL1_uc003wyf.2_Missense_Mutation_p.S242R	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	272	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGTAGGGGCCGCTGTAGTATA	0.428													T	17722224	G	T	17722224	3	4	228	1	0	0	0	0	1	0	0	0	5872	1078	38	5	126	5	FGL1	8	17722224	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	109914	17722224	128641798	430	115449											
ATP6V1B2	526	broad.mit.edu	37	chr8	20077788	20077788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaaggtccttacgaaaatCgcactgtctttgagactttg	8	8	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:20077788C>T	uc003wzp.2	+	14	1625	c.1411C>T	c.(1411-1413)CGC>TGC	p.R471C	ATP6V1B2_uc003wzq.1_RNA	NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	471					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				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TTACGAAAATCGCACTGTCTT	0.393													T	20077788	C	T	20077788	3	4	228	1	0	0	0	0	1	0	0	0	1179	884	31	1	1465	1	ATP6V1B2	8	20077788	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2355564	20077788	126286234	431	115450											
EGR3	1960	broad.mit.edu	37	chr8	22548121	22548121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgcgctcgtcgctgcgCgcaaacttgcgcccgcagaa	12	16	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:22548121C>T	uc003xcm.1	-	2	1387	c.1029G>A	c.(1027-1029)GCG>GCA	p.A343A	EGR3_uc011kzn.1_Silent_p.A305A|EGR3_uc011kzo.1_Silent_p.A289A	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	343	C2H2-type 3.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGTCGCTGCGCGCAAACTTGC	0.652													T	22548121	C	T	22548121	2	4	228	1	0	0	0	0	0	0	0	1	4973	755	27	1		1	EGR3	8	22548121	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2470333	22548121	123815901	432	115451											
ENTPD4	9583	broad.mit.edu	37	chr8	23290496	23290496	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctccatccagagggcggcGgccgagctgctccggggagt	16	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:23290496G>C	uc003xdl.2	-	13	1958	c.1794C>G	c.(1792-1794)GCC>GCG	p.A598A	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Silent_p.A590A	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	598	Cytoplasmic (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGAGGGCGGCGGCCGAGCTGC	0.642													C	23290496	G	C	23290496	2	2	228	1	0	0	0	0	0	0	0	1	5141	1103	39	5		5	ENTPD4	8	23290496	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	742375	23290496	123073526	433	115452											
PTK2B	2185	broad.mit.edu	37	chr8	27311779	27311779	+	Frame_Shift_Del	DEL	C	C	-													agaatgagctctgtcagctgCcccccgagggctacgtggtg					rs142584961		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:27311778_27311778GC>G	uc003xfn.2	+	33	3511	c.2703_2703GC>G	c.(2701-2703)ctgfs	p.L901fs	PTK2B_uc022ate.1_Frame_Shift_Del_p.L901fs|PTK2B_uc003xfp.2_Frame_Shift_Del_p.L901fs|PTK2B_uc003xfq.2_Frame_Shift_Del_p.L859fs	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	901	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCTGTCAGCTGCCCCCCGAGG	0.632													-	27311779	C	-	27311779	7	5	228	1	0	1	0	1	0	0	0	0	12763	739	26	0	2814	0	PTK2B	8	27311779	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	4021283	27311779	119052243	434	115453											
C8orf80	389643	broad.mit.edu	37	chr8	27922054	27922054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctttttccacatctcGtccctcttgctgttgaagtc	6	14	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:27922054G>A	uc003xgm.3	-	7	1049	c.906C>T	c.(904-906)GAC>GAT	p.D302D		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	302						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		TCCACATCTCGTCCCTCTTGC	0.493													A	27922054	G	A	27922054	2	1	228	1	0	0	0	0	0	0	0	1	2439	1136	40	1		1	C8orf80	8	27922054	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	610275	27922054	118441968	435	115454											
HMBOX1	79618	broad.mit.edu	37	chr8	28908656	28908656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgaaatcaagacagaggCcctggatgatgactgatcag	11	9	2	5			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:28908656C>T	uc003xhd.3	+	10	1589	c.1247C>T	c.(1246-1248)GCC>GTC	p.A416V	HMBOX1_uc003xhc.3_Intron|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.A416V|HMBOX1_uc011lay.1_Missense_Mutation_p.A439V|HMBOX1_uc003xhf.2_Missense_Mutation_p.A402V|HMBOX1_uc003xhg.2_3'UTR	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	416					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AAGACAGAGGCCCTGGATGAT	0.473													T	28908656	C	T	28908656	3	4	228	1	0	0	0	0	1	0	0	0	7218	739	26	2	1281	2	HMBOX1	8	28908656	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	986602	28908656	117455366	436	115455											
WRN	7486	broad.mit.edu	37	chr8	30977901	30977901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggacttcaaagttcttGtcacgtcctctgggctcctg	10	11	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:30977901G>A	uc003xio.3	+	21	3379	c.2591G>A	c.(2590-2592)TGT>TAT	p.C864Y	WRN_uc010lvk.2_Missense_Mutation_p.C331Y	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	864	Helicase C-terminal.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAAAGTTCTTGTCACGTCCTC	0.388			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30977901	G	A	30977901	3	1	228	1	0	0	0	0	1	0	0	0	17399	1377	48	4	2669	4	WRN	8	30977901	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2069245	30977901	115386121	437	115456											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732311	37732311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttttcaccttcactgccCttagccacatccttcttccc	5	17	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:37732311C>A	uc003xkm.1	-	3	1388	c.1344G>T	c.(1342-1344)AAG>AAT	p.K448N	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.K296N|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.K448N|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.K296N	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	448					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTCACTGCCCTTAGCCACAT	0.572													A	37732311	C	A	37732311	3	1	228	1	0	0	0	0	1	0	0	0	12893	680	24	5	2523	5	RAB11FIP1	8	37732311	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6754410	37732311	108631711	438	115457											
WHSC1L1	54904	broad.mit.edu	37	chr8	38178604	38178606	+	In_Frame_Del	DEL	TCT	TCT	-													gccaacctgctcctttttgaTcttcttctttggcacaacct							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38178603_38178605ATCT>A	uc003xli.3	-	7	2312_2314	c.1794_1796AGAT>T	c.(1792-1797)aagatc>aaTc	p.598_599KI>N	WHSC1L1_uc011lbm.2_In_Frame_Del_p.598_599KI>N|WHSC1L1_uc010lwe.3_In_Frame_Del_p.598_599KI>N|WHSC1L1_uc003xlj.3_In_Frame_Del_p.598_599KI>N	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	598					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)			CTCCTTTTTGATCTTCTTCTTTG	0.36			T	NUP98	AML								-	38178606	TCT	-	38178604	7	5	228	1	0	1	0	1	0	0	0	0	17360	1435	50	0	2673	0	WHSC1L1	8	38178604	In_Frame_Del	DEL	TCT	TCGA-D7-A4YV-01A-11D-A25D-08	446293	38178604	108185418	439	115458											
FGFR1	2260	broad.mit.edu	37	chr8	38275752	38275752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtattattacctgtccCgaggcagctcccagcgaggg	11	12	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38275752C>T	uc003xlp.2	-	11	2366	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R473Q|FGFR1_uc011lbp.1_Missense_Mutation_p.R386Q|FGFR1_uc011lbq.1_Missense_Mutation_p.R384Q|FGFR1_uc010lwk.2_Missense_Mutation_p.R465Q	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	475	Cytoplasmic (Potential).				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			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	TTACCTGTCCCGAGGCAGCTC	0.532		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						T	38275752	C	T	38275752	3	4	228	1	0	0	0	0	1	0	0	0	5863	652	23	1	1080	1	FGFR1	8	38275752	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	97148	38275752	108088270	440	115459											
PLEKHA2	59339	broad.mit.edu	37	chr8	38810883	38810883	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaatgtctggtcaagtcTgggtaattgtgtctgctttt	11	6	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38810883T>G	uc003xmi.3	+	9	1005	c.771T>G	c.(769-771)TCT>TCG	p.S257S	PLEKHA2_uc011lce.1_Silent_p.S207S	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	257	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TGGTCAAGTCTGGGTAATTGT	0.428													G	38810883	T	G	38810883	2	3	228	1	0	0	0	0	0	0	0	1	12056	1567	55	5		5	PLEKHA2	8	38810883	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	535131	38810883	107553139	441	115460											
HTRA4	203100	broad.mit.edu	37	chr8	38832633	38832633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgccatcggtggttcacGtgcagctgtggggcaggtaa	17	9	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:38832633G>A	uc003xmj.2	+	2	665	c.550G>A	c.(550-552)GTG>ATG	p.V184M		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	184					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GGTGGTTCACGTGCAGCTGTG	0.577													A	38832633	G	A	38832633	3	1	228	1	0	0	0	0	1	0	0	0	7456	1145	40	1	556	1	HTRA4	8	38832633	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	21750	38832633	107531389	442	115461											
SNAI2	6591	broad.mit.edu	37	chr8	49833819	49833819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgaccaggaaggagcgCggcatcttgccagcgggtct	14	11	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:49833819C>T	uc003xqp.2	-	1	170	c.6G>A	c.(4-6)CCG>CCA	p.P2P		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	2					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGAAGGAGCGCGGCATCTTGC	0.592													T	49833819	C	T	49833819	2	4	228	1	0	0	0	0	0	0	0	1	14827	755	27	1		1	SNAI2	8	49833819	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	11001186	49833819	96530203	443	115462											
RB1CC1	9821	broad.mit.edu	37	chr8	53548618	53548618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcttcagacaacataTgaatattttctctaaaagtg	5	6	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:53548618T>C	uc003xre.3	-	19	4907	c.4349A>G	c.(4348-4350)CAT>CGT	p.H1450R	RB1CC1_uc003xrf.3_Missense_Mutation_p.H1450R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1450	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGACAACATATGAATATTTTC	0.269													C	53548618	T	C	53548618	3	2	228	1	0	0	0	0	1	0	0	0	13099	1464	51	3	459	3	RB1CC1	8	53548618	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	3714799	53548618	92815404	444	115463											
RAB2A	5862	broad.mit.edu	37	chr8	61504441	61504442	+	Frame_Shift_Ins	INS	-	-	A													tagaatctagaagagaagtaINSaaaaaagaagaaggtgaagc					rs141013917		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:61504440_61504441T>TA	uc003xud.2	+	5	684_685	c.386_387T>TA	c.(385-387)gtafs	p.V129fs	RAB2A_uc011lef.2_Frame_Shift_Ins_p.V105fs	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	129					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AGAAGAGAAGTAAAAAAAGAAG	0.386													A	61504442	-	A	61504441	7	5	228	1	0	1	1	0	0	0	0	0	12917	349	13	0	409	0	RAB2A	8	61504441	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	7955823	61504441	84859581	445	115464											
CHD7	55636	broad.mit.edu	37	chr8	61763086	61763086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccatgcgagctgacccCgcgctgtgctttctggaacg	11	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:61763086C>T	uc003xue.2	+	26	5916	c.5439C>T	c.(5437-5439)CCC>CCT	p.P1813P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1813					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GAGCTGACCCCGCGCTGTGCT	0.542													T	61763086	C	T	61763086	2	4	228	1	0	0	0	0	0	0	0	1	3330	639	23	1		1	CHD7	8	61763086	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	258645	61763086	84600936	446	115465											
ASPH	444	broad.mit.edu	37	chr8	62415991	62415991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacgatgaatatcagcCggaaagatgaggcatcctgc	10	11	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:62415991C>T	uc003xuj.2	-	25	2473	c.2204G>A	c.(2203-2205)CGG>CAG	p.R735Q	ASPH_uc011leg.1_Missense_Mutation_p.R706Q	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	735	Lumenal (Potential).				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			ovary(3)	3	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)	GAATATCAGCCGGAAAGATGA	0.507													T	62415991	C	T	62415991	3	4	228	1	0	0	0	0	1	0	0	0	1053	652	23	1	76	1	ASPH	8	62415991	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	652905	62415991	83948031	447	115466											
TRPA1	8989	broad.mit.edu	37	chr8	72945932	72945932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaggaaacaagttgtgCaaaggacagaactggatgtg	14	4	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:72945932C>A	uc003xza.2	-	23	2990	c.2815G>T	c.(2815-2817)GCA>TCA	p.A939S	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	939	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ACAAGTTGTGCAAAGGACAGA	0.353													A	72945932	C	A	72945932	3	1	228	1	0	0	0	0	1	0	0	0	16574	710	25	5	564	5	TRPA1	8	72945932	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	10529941	72945932	73418090	448	115467											
TRPA1	8989	broad.mit.edu	37	chr8	72948688	72948688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatatccataaaataattcCttttctgggatagaaaagaa	5	5	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:72948688C>A	uc003xza.2	-	21	2565	c.2390G>T	c.(2389-2391)AGG>ATG	p.R797M	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	797	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAAATAATTCCTTTTCTGGGA	0.348													A	72948688	C	A	72948688	3	1	228	1	0	0	0	0	1	0	0	0	16574	681	24	5	997	5	TRPA1	8	72948688	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2756	72948688	73415334	449	115468											
GDAP1	54332	broad.mit.edu	37	chr8	75276516	75276516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggttggtttgcttgcaGgagtgggatattttgctttt	14	3	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:75276516G>A	uc003yah.2	+	6	1070	c.991G>A	c.(991-993)GGA>AGA	p.G331R	GDAP1_uc011lfj.1_Missense_Mutation_p.G216R|GDAP1_uc003yai.2_Missense_Mutation_p.G263R	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	331						cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTTGCTTGCAGGAGTGGGATA	0.443													A	75276516	G	A	75276516	3	1	228	1	0	0	0	0	1	0	0	0	6307	1001	35	4	1013	4	GDAP1	8	75276516	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2327828	75276516	71087506	450	115469											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885496	88885496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaaacagcaaaggagtcAtgattgcaaactgctgggcc	10	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:88885496A>G	uc003ydz.2	-	1	801	c.704T>C	c.(703-705)ATG>ACG	p.M235T		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	235										ovary(1)	1						CAAAGGAGTCATGATTGCAAA	0.537													G	88885496	A	G	88885496	3	3	228	1	0	0	0	0	1	0	0	0	4272	217	8	3	487	3	DCAF4L2	8	88885496	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	13608980	88885496	57478526	451	115470											
C8orf47	203111	broad.mit.edu	37	chr8	99076899	99076900	+	Frame_Shift_Ins	INS	-	-	G													gtgtctgcgctccccgcaatINSgggctgctccagcagcgccc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:99076899_99076900insG	uc003yih.1	+	1	150_151	c.2_3insG	c.(1-3)ATGfs	p.M1fs		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	1											0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CTCCCCGCAATGGGCTGCTCCA	0.609													G	99076900	-	G	99076899	7	5	228	1	0	1	1	0	0	0	0	0	2432	1464	51	0	4	0	C8orf47	8	99076899	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	10191403	99076899	47287123	452	115471											
LRP12	29967	broad.mit.edu	37	chr8	105503644	105503644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaatgacccagaatgacGtgatcttgcaaaattaaaaa	7	8	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:105503644G>A	uc003yma.2	-	7	1932	c.1837C>T	c.(1837-1839)CGT>TGT	p.R613C	LRP12_uc003ymb.2_Missense_Mutation_p.R594C|LRP12_uc003ylz.2_Missense_Mutation_p.R19C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	613	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGAATGACGTGATCTTGCA	0.453													A	105503644	G	A	105503644	3	1	228	1	0	0	0	0	1	0	0	0	8954	1145	40	1	746	1	LRP12	8	105503644	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6426745	105503644	40860378	453	115472											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477474	110477474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttgatggctcacttacaGgtaatgttattttttaattt	7	4	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:110477474G>T	uc003yne.2	+	49	8517	c.8413G>T	c.(8413-8415)GGG>TGG	p.G2805W		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2805	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCACTTACAGGTAATGTTAT	0.284										HNSCC(38;0.096)			T	110477474	G	T	110477474	3	4	228	1	0	0	0	0	1	0	0	0	11972	1014	35	5	8607	5	PKHD1L1	8	110477474	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4973830	110477474	35886548	454	115473											
CSMD3	114788	broad.mit.edu	37	chr8	113529433	113529433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggggacccctgggtcaCgacacgcagtggcaacagaa	13	12	2	1	rs138068999		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:113529433C>T	uc003ynu.2	-	28	4745	c.4586G>A	c.(4585-4587)CGT>CAT	p.R1529H	CSMD3_uc003yns.2_Missense_Mutation_p.R801H|CSMD3_uc003ynt.2_Missense_Mutation_p.R1489H|CSMD3_uc011lhx.1_Missense_Mutation_p.R1425H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1529	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCCTGGGTCACGACACGCAGT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113529433	C	T	113529433	3	4	228	1	0	0	0	0	1	0	0	0	3946	536	19	1	6713	1	CSMD3	8	113529433	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3051959	113529433	32834589	455	115474											
NOV	4856	broad.mit.edu	37	chr8	120435322	120435322	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaactgtcctaagaacaatGaggccttcctccaggagctg	9	13	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:120435322G>T	uc003yoq.2	+	5	1245	c.1024G>T	c.(1024-1026)GAG>TAG	p.E342*		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	342					regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	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)	TAAGAACAATGAGGCCTTCCT	0.532													T	120435322	G	T	120435322	4	4	228	1	0	0	0	0	0	1	0	0	10553	1291	45	5	1042	5	NOV	8	120435322	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6905889	120435322	25928700	456	115475											
COL14A1	7373	broad.mit.edu	37	chr8	121292217	121292217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgatgcagattactcGgagttggttagcattggcag	15	7	0	1	rs78388021	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:121292217G>A	uc003yox.2	+	29	3790	c.3525G>A	c.(3523-3525)TCG>TCA	p.S1175S	COL14A1_uc003yoz.2_Silent_p.S140S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1175	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			CAGATTACTCGGAGTTGGTTA	0.408													A	121292217	G	A	121292217	2	1	228	1	0	0	0	0	0	0	0	1	3671	1103	39	1		1	COL14A1	8	121292217	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	856895	121292217	25071805	457	115476											
ZHX1	11244	broad.mit.edu	37	chr8	124266059	124266059	+	Frame_Shift_Del	DEL	C	C	-													cttccaagcataacgggtgtCcccaaaccaactaactatgt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124266058_124266058TC>T	uc003yqe.3	-	2	2739	c.2129_2129GA>A	c.(2128-2130)gacfs	p.D710fs	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Frame_Shift_Del_p.D710fs|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Frame_Shift_Del_p.D710fs|ZHX1_uc022bak.1_Frame_Shift_Del_p.D710fs	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	710					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)			ATAACGGGTGTCCCCAAACCA	0.448													-	124266059	C	-	124266059	7	5	228	1	0	1	0	1	0	0	0	0	17672	855	30	0	497	0	ZHX1	8	124266059	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	2973842	124266059	22097963	458	115477											
ATAD2	29028	broad.mit.edu	37	chr8	124338217	124338217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacagtgatgagctgctgCtgttctacctgggaacgtct	11	10	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124338217C>T	uc003yqh.3	-	26	4026	c.3918G>A	c.(3916-3918)CAG>CAA	p.Q1306Q	ATAD2_uc011lii.1_Silent_p.Q1097Q|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAGCTGCTGCTGTTCTACCT	0.378													T	124338217	C	T	124338217	2	4	228	1	0	0	0	0	0	0	0	1	1071	796	28	2		2	ATAD2	8	124338217	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	72158	124338217	22025805	459	115478											
ATAD2	29028	broad.mit.edu	37	chr8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcatcttcatcatcAtcatcatcatcatcatcgtc	1	14	12	0	rs149531312	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124382167A>T	uc003yqh.3	-	7	933	c.825T>A	c.(823-825)GAT>GAA	p.D275E	ATAD2_uc011lii.1_Missense_Mutation_p.D66E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D275E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.179													T	124382167	A	T	124382167	3	4	228	1	0	0	0	0	1	0	0	0	1071	214	8	5	3435	5	ATAD2	8	124382167	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	43950	124382167	21981855	460	115479											
WDYHV1	55093	broad.mit.edu	37	chr8	124449545	124449545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaattggagagagcctcCgccgccatatccctgcattg	12	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124449545C>T	uc003yqn.1	+	5	604	c.479C>T	c.(478-480)CCG>CTG	p.P160L	WDYHV1_uc011lij.1_Missense_Mutation_p.P100L|WDYHV1_uc003yqo.1_RNA	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	160					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2						AGAGAGCCTCCGCCGCCATAT	0.468													T	124449545	C	T	124449545	3	4	228	1	0	0	0	0	1	0	0	0	17340	652	23	1	497	1	WDYHV1	8	124449545	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	67378	124449545	21914477	461	115480											
ANXA13	312	broad.mit.edu	37	chr8	124696923	124696923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcgacttgtacagaCgttcagcaaaatagtcctca	6	12	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124696923C>T	uc003yqu.2	-	10	831	c.758G>A	c.(757-759)CGT>CAT	p.R253H	ANXA13_uc003yqt.2_Missense_Mutation_p.R294H	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	253					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTGTACAGACGTTCAGCAAA	0.517													T	124696923	C	T	124696923	3	4	228	1	0	0	0	0	1	0	0	0	717	536	19	1	200	1	ANXA13	8	124696923	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	247378	124696923	21667099	462	115481											
FAM91A1	157769	broad.mit.edu	37	chr8	124810440	124810440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttccatggctcccctcAccaatgaaatccggcctgtc	7	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:124810440A>G	uc003yqv.2	+	16	1583	c.1522A>G	c.(1522-1524)ACC>GCC	p.T508A	FAM91A1_uc011lik.1_Missense_Mutation_p.T508A|FAM91A1_uc011lil.1_Missense_Mutation_p.T266A	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	508										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGCTCCCCTCACCAATGAAAT	0.478													G	124810440	A	G	124810440	3	3	228	1	0	0	0	0	1	0	0	0	5651	159	6	3	1584	3	FAM91A1	8	124810440	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	113517	124810440	21553582	463	115482											
TG	7038	broad.mit.edu	37	chr8	134025948	134025948	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagctgcacacatagtctGcagggtcagaactgccgact	10	12	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:134025948G>T	uc003ytw.2	+	37	6542	c.6501G>T	c.(6499-6501)CTG>CTT	p.L2167L	TG_uc010mdw.2_Silent_p.L926L|TG_uc011ljb.1_Silent_p.L536L|TG_uc011ljc.1_Silent_p.L300L	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2167	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		CACATAGTCTGCAGGGTCAGA	0.532													T	134025948	G	T	134025948	2	4	228	1	0	0	0	0	0	0	0	1	15810	1306	46	5		5	TG	8	134025948	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	9215508	134025948	12338074	464	115483											
FAM135B	51059	broad.mit.edu	37	chr8	139153505	139153505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagagagtgacaggaaCgtgtggagtttgttgaggta	17	5	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:139153505C>T	uc003yuy.2	-	17	3897	c.3726G>A	c.(3724-3726)ACG>ACA	p.T1242T	FAM135B_uc003yux.2_Silent_p.T1143T|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1242										ovary(7)|skin(2)	9	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)			GTGACAGGAACGTGTGGAGTT	0.507										HNSCC(54;0.14)			T	139153505	C	T	139153505	2	4	228	1	0	0	0	0	0	0	0	1	5449	523	19	1		1	FAM135B	8	139153505	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5127557	139153505	7210517	465	115484											
EIF2C2	27161	broad.mit.edu	37	chr8	141566043	141566043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcacccgcccagtcacGtctgtcatctcatctttgac	7	16	5	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:141566043G>A	uc003yvn.2	-	10	1261	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	EIF2C2_uc010men.2_Silent_p.D330D|EIF2C2_uc010meo.2_Silent_p.D407D	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	407					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GCCCAGTCACGTCTGTCATCT	0.577													A	141566043	G	A	141566043	2	1	228	1	0	0	0	0	0	0	0	1	5006	1136	40	1		1	EIF2C2	8	141566043	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2412538	141566043	4797979	466	115485											
FLJ43860	389690	broad.mit.edu	37	chr8	142458045	142458045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctcctgggcctgctgCttgggctagggctcgctggg	17	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:142458045C>T	uc003ywi.2	-	23	2862	c.2781G>A	c.(2779-2781)AAG>AAA	p.K927K	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	927							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GGGCCTGCTGCTTGGGCTAGG	0.652													T	142458045	C	T	142458045	2	4	228	1	0	0	0	0	0	0	0	1	5930	796	28	2		2	FLJ43860	8	142458045	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	892002	142458045	3905977	467	115486											
ZNF696	79943	broad.mit.edu	37	chr8	144378347	144378347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatccacagctcgcacGtggtccggcaccagcgggcg	12	17	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144378347G>A	uc003yxy.3	+	3	911	c.502G>A	c.(502-504)GTG>ATG	p.V168M		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	168	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			CAGCTCGCACGTGGTCCGGCA	0.687													A	144378347	G	A	144378347	3	1	228	1	0	0	0	0	1	0	0	0	18096	1145	40	1	508	1	ZNF696	8	144378347	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1920302	144378347	1985675	468	115487											
TOP1MT	116447	broad.mit.edu	37	chr8	144391637	144391637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagtcttctcctgccaTggcgagagcccaggcgaacc	10	14	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144391637T>C	uc003yxz.2	-	14	1799	c.1780A>G	c.(1780-1782)ATG>GTG	p.M594V	TOP1MT_uc011lkd.1_Missense_Mutation_p.M496V|TOP1MT_uc011lke.1_Missense_Mutation_p.M496V|TOP1MT_uc010mfb.2_Missense_Mutation_p.M496V|TOP1MT_uc011lkf.1_3'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	594					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	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)	TCTCCTGCCATGGCGAGAGCC	0.502													C	144391637	T	C	144391637	3	2	228	1	0	0	0	0	1	0	0	0	16361	1464	51	3	29	3	TOP1MT	8	144391637	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	13290	144391637	1972385	469	115488											
ZC3H3	23144	broad.mit.edu	37	chr8	144620765	144620765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgtccccaaggagctGtggagcacagctggccacgg	13	14	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144620765G>A	uc003yyd.2	-	2	801	c.772C>T	c.(772-774)CAG>TAG	p.Q258*		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	258					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			CCAAGGAGCTGTGGAGCACAG	0.672													A	144620765	G	A	144620765	4	1	228	1	0	0	0	0	0	1	0	0	17566	1386	48	4	2118	4	ZC3H3	8	144620765	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	229128	144620765	1743257	470	115489											
SCRIB	23513	broad.mit.edu	37	chr8	144877464	144877464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgcggcttctgtggcctCgggcccccagtgcagggtct	14	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144877464C>T	uc003yzp.1	-	26	3761	c.3754G>A	c.(3754-3756)GAG>AAG	p.E1252K	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.E1252K	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1252					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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGTGGCCTCGGGCCCCCAG	0.687													T	144877464	C	T	144877464	3	4	228	1	0	0	0	0	1	0	0	0	13937	893	31	1	1261	1	SCRIB	8	144877464	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	256699	144877464	1486558	471	115490											
NRBP2	340371	broad.mit.edu	37	chr8	144918173	144918173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagctgccggtgcagccGgtcttccagcaccagaagca	13	14	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144918173G>A	uc011lkt.1	-	16	1485	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	NRBP2_uc003yzv.2_Missense_Mutation_p.R206W|NRBP2_uc003yzz.1_Missense_Mutation_p.R99W|NRBP2_uc003yzw.2_Missense_Mutation_p.R241W|NRBP2_uc010mfl.2_Missense_Mutation_p.R241W|NRBP2_uc010mfm.2_Missense_Mutation_p.R206W|NRBP2_uc011lks.1_Missense_Mutation_p.R206W|NRBP2_uc003yzy.2_Missense_Mutation_p.R206W	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	449					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	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)			CGGTGCAGCCGGTCTTCCAGC	0.741													A	144918173	G	A	144918173	3	1	228	1	0	0	0	0	1	0	0	0	10643	1115	39	1	172	1	NRBP2	8	144918173	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	40709	144918173	1445849	472	115491											
PLEC	5339	broad.mit.edu	37	chr8	144994837	144994837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagggccacggccatgtcgGatggcagcaggtctttcttc	13	12	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:144994837G>A	uc003zaf.1	-	32	9733	c.9563C>T	c.(9562-9564)TCC>TTC	p.S3188F	PLEC_uc003zab.1_Missense_Mutation_p.S3051F|PLEC_uc003zac.1_Missense_Mutation_p.S3055F|PLEC_uc003zad.2_Missense_Mutation_p.S3051F|PLEC_uc003zae.1_Missense_Mutation_p.S3019F|PLEC_uc003zag.1_Missense_Mutation_p.S3029F|PLEC_uc003zah.2_Missense_Mutation_p.S3037F|PLEC_uc003zaj.2_Missense_Mutation_p.S3078F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3188	Globular 2.|Plectin 7.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGCCATGTCGGATGGCAGCAG	0.667													A	144994837	G	A	144994837	3	1	228	1	0	0	0	0	1	0	0	0	12052	1174	41	4	4495	4	PLEC	8	144994837	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	76664	144994837	1369185	473	115492											
SCRT1	83482	broad.mit.edu	37	chr8	145557015	145557015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaatgcgtctgcatgtgCgcgcgcaggttggagcggtc	17	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:145557015C>T	uc003zbw.1	-	2	991	c.879G>A	c.(877-879)GCG>GCA	p.A293A		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	293	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)			TCTGCATGTGCGCGCGCAGGT	0.637													T	145557015	C	T	145557015	2	4	228	1	0	0	0	0	0	0	0	1	13941	755	27	1		1	SCRT1	8	145557015	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	562178	145557015	807007	474	115493											
KIFC2	90990	broad.mit.edu	37	chr8	145693130	145693130	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcagcagctggaacagcagGaggaggagttgggtcgactg	18	7	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:145693130G>C	uc003zcz.2	+	6	714	c.649G>C	c.(649-651)GAG>CAG	p.E217Q	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	217	Potential.|Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)			GGAACAGCAGGAGGAGGAGTT	0.637											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	145693130	G	C	145693130	3	2	228	1	0	0	0	0	1	0	0	0	8313	1175	41	5	671	5	KIFC2	8	145693130	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	136115	145693130	670892	475	115494											
RECQL4	9401	broad.mit.edu	37	chr8	145740361	145740361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggagagacgaccaacgTgaggcaggggctgcgccggc	19	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr8:145740361T>C	uc003zdj.2	-	9	1611	c.1579A>G	c.(1579-1581)ACG>GCG	p.T527A		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	527	Helicase ATP-binding.				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)|lung(1)|skin(1)	4	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)			ACGACCAACGTGAGGCAGGGG	0.637			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				C	145740361	T	C	145740361	3	2	228	1	0	0	0	0	1	0	0	0	13202	1696	59	3	2100	3	RECQL4	8	145740361	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	47231	145740361	623661	476	115495											
VLDLR	7436	broad.mit.edu	37	chr9	2644970	2644970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagatattgatgaatgCcaaaatccaggaatctgcag	8	10	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:2644970C>T	uc003zhk.1	+	9	1597	c.1200C>T	c.(1198-1200)TGC>TGT	p.C400C	VLDLR_uc003zhl.1_Silent_p.C400C|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.C359C	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	400	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TTGATGAATGCCAAAATCCAG	0.428													T	2644970	C	T	2644970	2	4	228	1	0	0	0	0	0	0	0	1	17171	747	26	2		2	VLDLR	9	2644970	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		2644970	138568461	477	115496											
CNTLN	54875	broad.mit.edu	37	chr9	17457549	17457549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttggatttggctgggcttCggaaagaaaaagaagattta	12	3	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:17457549C>T	uc003zmz.2	+	19	3165	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	CNTLN_uc003zmy.2_Missense_Mutation_p.R1048W|CNTLN_uc010mio.2_Missense_Mutation_p.R727W	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1048	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GGCTGGGCTTCGGAAAGAAAA	0.269													T	17457549	C	T	17457549	3	4	228	1	0	0	0	0	1	0	0	0	3639	875	31	1	3246	1	CNTLN	9	17457549	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	14812579	17457549	123755882	478	115497											
TEK	7010	broad.mit.edu	37	chr9	27217741	27217741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaattacagtgtgtacaCaaccaacagtgatgtgtgag	10	7	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:27217741C>T	uc003zqi.3	+	19	3489	c.3047C>T	c.(3046-3048)ACA>ATA	p.T1016I	TEK_uc011lno.1_Missense_Mutation_p.T973I|TEK_uc011lnp.1_Missense_Mutation_p.T868I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1016	Protein kinase.|Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGTGTGTACACAACCAACAGT	0.428													T	27217741	C	T	27217741	3	4	228	1	0	0	0	0	1	0	0	0	15748	478	17	4	3121	4	TEK	9	27217741	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9760192	27217741	113995690	479	115498											
NOL6	65083	broad.mit.edu	37	chr9	33469244	33469244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcggtaccaggcagagcGcacattgttcttggttggca	12	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:33469244G>A	uc003zsz.2	-	6	924	c.823C>T	c.(823-825)CGC>TGC	p.R275C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.R275C|NOL6_uc010mjv.2_Missense_Mutation_p.R275C|NOL6_uc011lob.1_Missense_Mutation_p.R215C|NOL6_uc003ztb.1_Missense_Mutation_p.R275C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	275					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGGCAGAGCGCACATTGTTC	0.617													A	33469244	G	A	33469244	3	1	228	1	0	0	0	0	1	0	0	0	10525	1087	38	1	2701	1	NOL6	9	33469244	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6251503	33469244	107744187	480	115499											
STOML2	30968	broad.mit.edu	37	chr9	35101939	35101939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgcaggtaaaggactccatCgatttgcagagttacattgt	11	8	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:35101939C>T	uc003zwi.2	-	4	367	c.304G>A	c.(304-306)GAT>AAT	p.D102N	STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.D102N|STOML2_uc003zwk.2_Missense_Mutation_p.D51N	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	102						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGACTCCATCGATTTGCAGA	0.473													T	35101939	C	T	35101939	3	4	228	1	0	0	0	0	1	0	0	0	15313	884	31	1	794	1	STOML2	9	35101939	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1632695	35101939	106111492	481	115500											
DCAF10	79269	broad.mit.edu	37	chr9	37861193	37861193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgacctgtctcacctcgCtgttctctacgactgactca	8	15	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:37861193C>T	uc004aao.2	+	7	1442	c.1368C>T	c.(1366-1368)CGC>CGT	p.R456R	DCAF10_uc010mlz.2_Silent_p.R283R|DCAF10_uc004aap.2_Silent_p.R107R	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	456						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						TCTCACCTCGCTGTTCTCTAC	0.483													T	37861193	C	T	37861193	2	4	228	1	0	0	0	0	0	0	0	1	4261	784	28	2		2	DCAF10	9	37861193	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2759254	37861193	103352238	482	115501											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	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			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	228	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	33131952	70993145	70220286	483	115502											
VPS13A	23230	broad.mit.edu	37	chr9	79910753	79910753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataaagctgagtgaaatgcGactatacaggtaagcttttc	9	6	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:79910753G>A	uc004akr.2	+	33	4063	c.3803G>A	c.(3802-3804)CGA>CAA	p.R1268Q	VPS13A_uc004akp.3_Missense_Mutation_p.R1268Q|VPS13A_uc004akq.3_Missense_Mutation_p.R1268Q|VPS13A_uc004aks.2_Missense_Mutation_p.R1229Q|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1268	TPR 4.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGTGAAATGCGACTATACAGG	0.348													A	79910753	G	A	79910753	3	1	228	1	0	0	0	0	1	0	0	0	17186	1058	37	1	3933	1	VPS13A	9	79910753	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8917608	79910753	61302678	484	115503											
GNAQ	2776	broad.mit.edu	37	chr9	80430566	80430566	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataattgatattctcgtcGtctatcatagcattcctgga	7	8	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:80430566G>A	uc004akw.2	-	3	483	c.442C>T	c.(442-444)CGA>TGA	p.R148*	GNAQ_uc011lso.1_Translation_Start_Site	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	148					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						TATTCTCGTCGTCTATCATAG	0.378			Mis		uveal melanoma								A	80430566	G	A	80430566	4	1	228	1	0	0	0	0	0	1	0	0	6509	1153	40	1	657	1	GNAQ	9	80430566	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	519813	80430566	60782865	485	115504											
AGTPBP1	23287	broad.mit.edu	37	chr9	88272486	88272486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatgccggttatcatggCggtgccaatctacataaatt	8	9	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:88272486C>T	uc011ltd.1	-	9	806	c.773G>A	c.(772-774)CGC>CAC	p.R258H	AGTPBP1_uc011ltc.1_Missense_Mutation_p.R156H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.R258H|AGTPBP1_uc011lte.1_Missense_Mutation_p.R310H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	258					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			ovary(4)|large_intestine(2)|skin(1)	7						GTTATCATGGCGGTGCCAATC	0.353													T	88272486	C	T	88272486	3	4	228	1	0	0	0	0	1	0	0	0	400	768	27	1	2855	1	AGTPBP1	9	88272486	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7841920	88272486	52940945	486	115505											
OMD	4958	broad.mit.edu	37	chr9	95179158	95179158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagaaggcaaaccaggaGgcattgattctaatctgtta	11	6	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:95179158G>T	uc004asd.3	-	2	1052	c.683C>A	c.(682-684)CCT>CAT	p.P228H	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin precursor	228	LRR 6.				cell adhesion	proteinaceous extracellular matrix				ovary(2)	2						CAAACCAGGAGGCATTGATTC	0.328			T	USP6	aneurysmal bone cysts								T	95179158	G	T	95179158	3	4	228	1	0	0	0	0	1	0	0	0	10865	1000	35	5	590	5	OMD	9	95179158	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6906672	95179158	46034273	487	115506											
C9orf129	445577	broad.mit.edu	37	chr9	96080728	96080728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggcagggcacactggCggagctgcttgctcagtagg	18	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:96080728C>T	uc010mre.2	-	5	907	c.543G>A	c.(541-543)CCG>CCA	p.P181P	WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	hypothetical protein LOC445577	181										ovary(1)	1						GGCACACTGGCGGAGCTGCTT	0.612													T	96080728	C	T	96080728	2	4	228	1	0	0	0	0	0	0	0	1	2456	755	27	1		1	C9orf129	9	96080728	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	901570	96080728	45132703	488	115507											
BARX1	56033	broad.mit.edu	37	chr9	96715033	96715033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttccacttcatcctcCgattctggtaccacgtcttc	4	15	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:96715033C>T	uc010mrh.2	-	3	758	c.578G>A	c.(577-579)CGG>CAG	p.R193Q	BARX1_uc004aud.2_Missense_Mutation_p.R39Q	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	193	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTCATCCTCCGATTCTGGTA	0.572													T	96715033	C	T	96715033	3	4	228	1	0	0	0	0	1	0	0	0	1315	652	23	1	194	1	BARX1	9	96715033	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	634305	96715033	44498398	489	115508											
TBC1D2	55357	broad.mit.edu	37	chr9	101014205	101014205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgcttgcttggtggCggcctgagaagcacaaggat	14	10	0	1	rs140114775	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:101014205C>T	uc011lvb.1	-	2	553	c.373G>A	c.(373-375)GCC>ACC	p.A125T	TBC1D2_uc004ayq.2_Missense_Mutation_p.A125T|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A125T	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	125	PH.|Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGCTTGGTGGCGGCCTGAGAA	0.607													T	101014205	C	T	101014205	3	4	228	1	0	0	0	0	1	0	0	0	15605	768	27	1	2428	1	TBC1D2	9	101014205	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4299172	101014205	40199226	490	115509											
ZNF462	58499	broad.mit.edu	37	chr9	109689884	109689884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatccggcagcatacgGccaccattcgaagcctctgc	10	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:109689884G>A	uc004bcz.2	+	3	3980	c.3691G>A	c.(3691-3693)GCC>ACC	p.A1231T	ZNF462_uc010mto.2_Missense_Mutation_p.A1079T|ZNF462_uc004bda.2_Missense_Mutation_p.A1079T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1231					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GCAGCATACGGCCACCATTCG	0.537													A	109689884	G	A	109689884	3	1	228	1	0	0	0	0	1	0	0	0	17923	1203	42	2	3697	2	ZNF462	9	109689884	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8675679	109689884	31523547	491	115510											
IKBKAP	8518	broad.mit.edu	37	chr9	111681575	111681576	+	Frame_Shift_Ins	INS	-	-	C													acagcaaaaaactgtccatcINScccccgccaggtaacttgtg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:111681574_111681575T>TC	uc004bdm.4	-	6	1127_1128	c.607_608A>GA	c.(607-609)gatfs	p.D203fs	IKBKAP_uc004bdl.3_5'Flank|IKBKAP_uc011lwc.2_Frame_Shift_Ins_p.D89fs|IKBKAP_uc010mtq.3_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	203					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|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						AAACTGTCCATCCCCCCGCCAG	0.386													C	111681576	-	C	111681575	7	5	228	1	0	1	1	0	0	0	0	0	7610	855	30	0	3515	0	IKBKAP	9	111681575	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	1991691	111681575	29531856	492	115511											
C9orf80	58493	broad.mit.edu	37	chr9	115456516	115456516	+	Splice_Site	DEL	A	A	-													tatttttgttttgaaaacctAaaaaaaagaggggaatagga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:115456515_115456515TA>T	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGA	0.348													-	115456516	A	-	115456516	8	5	228	1	0	1	0	1	0	0	1	0	2498	377	13	0		0	C9orf80	9	115456516	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	3774941	115456516	25756915	493	115512											
ZFP37	7539	broad.mit.edu	37	chr9	115806463	115806463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccattcttcttagcttgAgttttcttcttgactgcaac	6	11	4	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:115806463A>G	uc004bgm.1	-	4	463	c.435T>C	c.(433-435)ACT>ACC	p.T145T	ZFP37_uc011lwz.1_Silent_p.T160T|ZFP37_uc011lxa.1_Silent_p.T146T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	145						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCTTAGCTTGAGTTTTCTTCT	0.353													G	115806463	A	G	115806463	2	3	228	1	0	0	0	0	0	0	0	1	17645	291	11	3		3	ZFP37	9	115806463	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	349947	115806463	25406968	494	115513											
ZNF618	114991	broad.mit.edu	37	chr9	116811801	116811801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctggcggccatcctgaCgccggtgaagcaggcagtca	13	14	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:116811801C>T	uc004bid.2	+	15	2318	c.2219C>T	c.(2218-2220)ACG>ATG	p.T740M	ZNF618_uc004bic.2_Missense_Mutation_p.T647M|ZNF618_uc011lxi.1_Missense_Mutation_p.T707M|ZNF618_uc011lxj.1_Missense_Mutation_p.T708M|ZNF618_uc010mvb.2_Missense_Mutation_p.T330M	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCATCCTGACGCCGGTGAAG	0.612													T	116811801	C	T	116811801	3	4	228	1	0	0	0	0	1	0	0	0	18039	536	19	1	1994	1	ZNF618	9	116811801	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1005338	116811801	24401630	495	115514											
TNC	3371	broad.mit.edu	37	chr9	117849200	117849200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctgcaaagccatcgtgGcacacacacaagccatctac	7	16	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:117849200G>A	uc004bjj.3	-	3	1172	c.810C>T	c.(808-810)TGC>TGT	p.C270C	TNC_uc010mvf.2_Silent_p.C270C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	270	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AGCCATCGTGGCACACACACA	0.562													A	117849200	G	A	117849200	2	1	228	1	0	0	0	0	0	0	0	1	16267	1195	42	2		2	TNC	9	117849200	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1037399	117849200	23364231	496	115515											
ASTN2	23245	broad.mit.edu	37	chr9	119495677	119495677	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggcacatgtgtcttaCcagtgagcagttggaggtct	14	8	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:119495677C>T	uc004bjs.1	-	14	2622	c.2521_splice	c.e14+1	p.G841_splice	ASTN2_uc004bjr.1_Splice_Site_p.G837_splice|ASTN2_uc004bjt.1_Splice_Site_p.G790_splice	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c							integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						ATGTGTCTTACCAGTGAGCAG	0.612													T	119495677	C	T	119495677	5	4	228	1	0	0	0	0	0	0	1	0	1065	521	18	4	1769	4	ASTN2	9	119495677	Splice_Site	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1646477	119495677	21717754	497	115516											
TRAF1	7185	broad.mit.edu	37	chr9	123673661	123673661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggccgactcatggcacCgcctggtgacattggtgatc	12	13	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:123673661C>T	uc004bku.1	-	6	1408	c.836G>A	c.(835-837)CGG>CAG	p.R279Q	TRAF1_uc011lyg.1_Missense_Mutation_p.R157Q|TRAF1_uc010mvl.1_Missense_Mutation_p.R279Q	NM_005658	NP_005649	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	279	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			skin(2)|ovary(1)	3						CTCATGGCACCGCCTGGTGAC	0.622													T	123673661	C	T	123673661	3	4	228	1	0	0	0	0	1	0	0	0	16434	652	23	1	426	1	TRAF1	9	123673661	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4177984	123673661	17539770	498	115517											
DAB2IP	153090	broad.mit.edu	37	chr9	124536637	124536638	+	Frame_Shift_Ins	INS	-	-	C													acgagggcctgggcccagacINScccccccacagggataggct							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:124536636_124536637A>AC	uc004bln.3	+	12	3050_3051	c.2981_2982A>AC	c.(2980-2982)gacfs	p.D994fs	DAB2IP_uc004blo.3_Frame_Shift_Ins_p.D898fs|DAB2IP_uc004blp.3_Frame_Shift_Ins_p.D427fs	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1022					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 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 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 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|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|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						CTGGGCCCAGACCCCCCCCACA	0.634													C	124536638	-	C	124536637	7	5	228	1	0	1	1	0	0	0	0	0	4219	506	18	0	3032	0	DAB2IP	9	124536637	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	862976	124536637	16676794	499	115518											
MAPKAP1	79109	broad.mit.edu	37	chr9	128347904	128347904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaggtcctgcaccctggCgctggccattgtcaccacgg	12	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:128347904C>T	uc004bpv.2	-	5	934	c.601G>A	c.(601-603)GCC>ACC	p.A201T	MAPKAP1_uc011lzt.1_Missense_Mutation_p.A4T|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.A4T|MAPKAP1_uc011lzv.1_Missense_Mutation_p.A4T|MAPKAP1_uc004bpw.2_Missense_Mutation_p.A9T|MAPKAP1_uc004bpx.2_Missense_Mutation_p.A9T|MAPKAP1_uc004bpy.2_Missense_Mutation_p.A201T|MAPKAP1_uc004bpz.2_Missense_Mutation_p.A201T|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Missense_Mutation_p.A4T|MAPKAP1_uc004bqa.2_Missense_Mutation_p.A201T|MAPKAP1_uc010mxc.1_Missense_Mutation_p.A73T	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	201					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			ovary(2)|lung(2)	4						TGCACCCTGGCGCTGGCCATT	0.542													T	128347904	C	T	128347904	3	4	228	1	0	0	0	0	1	0	0	0	9288	768	27	1	1017	1	MAPKAP1	9	128347904	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3811267	128347904	12865527	500	115519											
METTL11A	28989	broad.mit.edu	37	chr9	132397705	132397705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggcaggagaacctccccGatgagatctaccatgtctat	10	11	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:132397705G>A	uc004byd.1	+	4	828	c.634G>A	c.(634-636)GAT>AAT	p.D212N	METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_3'UTR|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	212					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						GAACCTCCCCGATGAGATCTA	0.632													A	132397705	G	A	132397705	3	1	228	1	0	0	0	0	1	0	0	0	9495	1058	37	1	644	1	METTL11A	9	132397705	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4049801	132397705	8815726	501	115520											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165625	134165625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctccttcaagggcatcGccttcaactccctgctggcc	7	19	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:134165625G>A	uc004cal.2	+	1	545	c.241G>A	c.(241-243)GCC>ACC	p.A81T		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	81	interaction with MTOR (By similarity).|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CAAGGGCATCGCCTTCAACTC	0.657													A	134165625	G	A	134165625	3	1	228	1	0	0	0	0	1	0	0	0	12296	1087	38	1	243	1	PPAPDC3	9	134165625	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1767920	134165625	7047806	502	115521											
UCK1	83549	broad.mit.edu	37	chr9	134404971	134404971	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatcattatcaaaggcaTctgcagggttggagacaaag	10	7	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:134404971T>A	uc004cay.2	-	3	370	c.269A>T	c.(268-270)GAT>GTT	p.D90V	UCK1_uc010mzk.2_Missense_Mutation_p.D81V|UCK1_uc004cba.2_Missense_Mutation_p.D90V|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	90					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ATCAAAGGCATCTGCAGGGTT	0.547													A	134404971	T	A	134404971	3	1	228	1	0	0	0	0	1	0	0	0	16920	1449	50	5	584	5	UCK1	9	134404971	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	239346	134404971	6808460	503	115522											
UCK1	83549	broad.mit.edu	37	chr9	134405956	134405956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaacctgtcctggctcAggatgaccaccttccgctgc	10	14	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:134405956A>G	uc004cay.2	-	2	286	c.185T>C	c.(184-186)CTG>CCG	p.L62P	UCK1_uc010mzk.2_Missense_Mutation_p.L53P|UCK1_uc004cba.2_Missense_Mutation_p.L62P|UCK1_uc004caz.2_RNA	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1 isoform a	62					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTCCTGGCTCAGGATGACCAC	0.552													G	134405956	A	G	134405956	3	3	228	1	0	0	0	0	1	0	0	0	16920	188	7	3	672	3	UCK1	9	134405956	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	985	134405956	6807475	504	115523											
NTNG2	84628	broad.mit.edu	37	chr9	135114621	135114621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgggctactaccgcaaCggctcggcagagctggatga	15	12	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135114621C>T	uc004cbh.2	+	6	1961	c.1185C>T	c.(1183-1185)AAC>AAT	p.N395N		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	395	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACTACCGCAACGGCTCGGCAG	0.607													T	135114621	C	T	135114621	2	4	228	1	0	0	0	0	0	0	0	1	10705	535	19	1		1	NTNG2	9	135114621	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	708665	135114621	6098810	505	115524											
SETX	23064	broad.mit.edu	37	chr9	135202830	135202830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagattctggtacaaatatGtcagaattctgtgctgtatg	9	6	4	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135202830G>A	uc004cbk.2	-	10	4338	c.4155C>T	c.(4153-4155)GAC>GAT	p.D1385D	SETX_uc004cbj.2_Silent_p.D1004D|SETX_uc010mzt.2_Silent_p.D1004D	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1385					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTACAAATATGTCAGAATTCT	0.373													A	135202830	G	A	135202830	2	1	228	1	0	0	0	0	0	0	0	1	14141	1368	48	4		4	SETX	9	135202830	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	88209	135202830	6010601	506	115525											
C9orf171	389799	broad.mit.edu	37	chr9	135285799	135285799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgttccggcatggagaaCgagcggctgggggtcgtgcg	18	10	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135285799C>T	uc004cbn.2	+	1	189	c.141C>T	c.(139-141)AAC>AAT	p.N47N	C9orf171_uc004cbo.2_Silent_p.N47N	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	47										ovary(4)|large_intestine(1)	5						GCATGGAGAACGAGCGGCTGG	0.602													T	135285799	C	T	135285799	2	4	228	1	0	0	0	0	0	0	0	1	2470	535	19	1		1	C9orf171	9	135285799	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	82969	135285799	5927632	507	115526											
GTF3C5	9328	broad.mit.edu	37	chr9	135929265	135929265	+	Frame_Shift_Del	DEL	A	A	-													cgatttgggtatgacccccgAaaaaacccagatgccaagat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:135929264_135929264GA>G	uc004ccj.4	+	5	1260	c.923_923GA>G	c.(922-924)cgafs	p.R308fs	GTF3C5_uc010mzz.2_Frame_Shift_Del_p.R183fs|GTF3C5_uc004cci.4_Frame_Shift_Del_p.R308fs	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	308						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)		TATGACCCCCGAAAAAACCCA	0.493													-	135929265	A	-	135929265	7	5	228	1	0	1	0	1	0	0	0	0	6876	233	9	0	946	0	GTF3C5	9	135929265	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	643466	135929265	5284166	508	115527											
DBH	1621	broad.mit.edu	37	chr9	136513045	136513045	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcggggatcatggagctgGgactggtgtacacgccagtg	17	9	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:136513045G>T	uc004cel.2	+	6	1111	c.1102G>T	c.(1102-1104)GGA>TGA	p.G368*		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	368	Intragranular (Potential).				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			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CATGGAGCTGGGACTGGTGTA	0.612													T	136513045	G	T	136513045	4	4	228	1	0	0	0	0	0	1	0	0	4250	1233	43	5	1124	5	DBH	9	136513045	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	583780	136513045	4700386	509	115528											
SOHLH1	402381	broad.mit.edu	37	chr9	138591262	138591262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacttgcatcccctgaCggtagggattctggagacct	10	13	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:138591262C>T	uc004cgl.2	-	1	113	c.52G>A	c.(52-54)GTC>ATC	p.V18I	KCNT1_uc011mdq.1_5'Flank|KCNT1_uc011mdr.1_5'Flank|KCNT1_uc010nbf.2_5'Flank|SOHLH1_uc010nbe.2_Missense_Mutation_p.V18I	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	18					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CATCCCCTGACGGTAGGGATT	0.677													T	138591262	C	T	138591262	3	4	228	1	0	0	0	0	1	0	0	0	14923	536	19	1	1184	1	SOHLH1	9	138591262	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2078217	138591262	2622169	510	115529											
SNAPC4	6621	broad.mit.edu	37	chr9	139270819	139270819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctgctcacaccagccGcctccgcttccgggtgtgcc	10	19	1	0	rs144652680	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139270819G>A	uc004chh.2	-	22	4408	c.4399C>T	c.(4399-4401)CGG>TGG	p.R1467W	CARD9_uc004chg.3_5'Flank|CARD9_uc011mdw.1_5'Flank|CARD9_uc011mdx.1_5'Flank|CARD9_uc010nbj.2_5'Flank	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1467					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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACACCAGCCGCCTCCGCTTC	0.627													A	139270819	G	A	139270819	3	1	228	1	0	0	0	0	1	0	0	0	14837	1086	38	1	14	1	SNAPC4	9	139270819	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	679557	139270819	1942612	511	115530											
INPP5E	56623	broad.mit.edu	37	chr9	139325467	139325467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaccgtgtatgagggcGtcctctgcttggaggtgctg	15	11	2	1	rs75342839	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139325467G>A	uc004cho.2	-	8	2037	c.1652C>T	c.(1651-1653)ACG>ATG	p.T551M	INPP5E_uc010nbm.2_Missense_Mutation_p.T550M	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	551						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GTATGAGGGCGTCCTCTGCTT	0.612													A	139325467	G	A	139325467	3	1	228	1	0	0	0	0	1	0	0	0	7757	1145	40	1	294	1	INPP5E	9	139325467	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	54648	139325467	1887964	512	115531											
SEC16A	9919	broad.mit.edu	37	chr9	139368831	139368831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctggatttgacagctcCgaaaacatggctttgggtag	11	8	1	1	rs3812593		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139368831C>T	uc004chx.2	-	3	3546	c.3237G>A	c.(3235-3237)TCG>TCA	p.S1079S	SEC16A_uc004chv.3_Silent_p.S469S|SEC16A_uc004chw.2_Silent_p.S1079S|SEC16A_uc010nbn.2_Silent_p.S1079S|SEC16A_uc010nbo.1_Silent_p.S1079S	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	901					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTGACAGCTCCGAAAACATGG	0.607													T	139368831	C	T	139368831	2	4	228	1	0	0	0	0	0	0	0	1	13986	639	23	1		1	SEC16A	9	139368831	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	43364	139368831	1844600	513	115532											
NOTCH1	4851	broad.mit.edu	37	chr9	139390736	139390736	+	Frame_Shift_Del	DEL	G	G	-													gaggagtagctgtgctgcgaGgggggcgtcaggaactgggc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139390736delG	uc004chz.2	-	34	7455	c.7455delC	c.(7453-7455)CCCfs	p.P2485fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2485	Cytoplasmic (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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTGCTGCGAGGGGGGCGTCA	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			-	139390736	G	-	139390736	7	5	228	1	0	1	0	1	0	0	0	0	10547	987	35	0	216	0	NOTCH1	9	139390736	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	21905	139390736	1822695	514	115533											
NOTCH1	4851	broad.mit.edu	37	chr9	139402689	139402689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcacagcaggttaccttgtCgctgcgcagccacctcacag	11	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139402689C>T	uc004chz.2	-	20	3320	c.3320G>A	c.(3319-3321)CGA>CAA	p.R1107Q	NOTCH1_uc004cia.1_Missense_Mutation_p.R337Q	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1107	Extracellular (Potential).|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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTACCTTGTCGCTGCGCAGC	0.677			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139402689	C	T	139402689	3	4	228	1	0	0	0	0	1	0	0	0	10547	884	31	1	4407	1	NOTCH1	9	139402689	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	11953	139402689	1810742	515	115534											
ABCA2	20	broad.mit.edu	37	chr9	139904678	139904678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggcctcgccccccgtcGtgctctcgtcgccggtcagc	12	19	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139904678G>A	uc011mem.1	-	40	6465	c.6317C>T	c.(6316-6318)ACG>ATG	p.T2106M	ABCA2_uc011mel.1_Missense_Mutation_p.T2107M|ABCA2_uc004ckl.1_Missense_Mutation_p.T2037M|ABCA2_uc004ckm.1_Missense_Mutation_p.T2137M	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2106	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				0	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)		GCCCCCCGTCGTGCTCTCGTC	0.706													A	139904678	G	A	139904678	3	1	228	1	0	0	0	0	1	0	0	0	32	1145	40	1	1026	1	ABCA2	9	139904678	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	501989	139904678	1308753	516	115535											
ENTPD2	954	broad.mit.edu	37	chr9	139945517	139945517	+	Frame_Shift_Del	DEL	C	C	-													aagtgatctgggtagaggcaCcccccaggtccatggccccc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139945516_139945516AC>A	uc004ckw.2	-	4	666	c.612_612GT>T	c.(610-612)ggtfs	p.G204fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.G204fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	204						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)		GGGTAGAGGCACCCCCCAGGT	0.647													-	139945517	C	-	139945517	7	5	228	1	0	1	0	1	0	0	0	0	5139	507	18	0	896	0	ENTPD2	9	139945517	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	40839	139945517	1267914	517	115536											
MAN1B1	11253	broad.mit.edu	37	chr9	139994162	139994162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactagtgcatctgaactatCgccagaagggcgtgattgac	11	9	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:139994162C>T	uc004cld.2	+	6	780	c.745C>T	c.(745-747)CGC>TGC	p.R249C	MAN1B1_uc004clc.2_Missense_Mutation_p.R150C|MAN1B1_uc011meo.1_Missense_Mutation_p.R150C|MAN1B1_uc011mep.1_Missense_Mutation_p.R249C|MAN1B1_uc010ncc.2_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	249	Lumenal (Potential).				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			ovary(1)|central_nervous_system(1)	2	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)		TCTGAACTATCGCCAGAAGGG	0.587													T	139994162	C	T	139994162	3	4	228	1	0	0	0	0	1	0	0	0	9212	884	31	1	767	1	MAN1B1	9	139994162	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	48645	139994162	1219269	518	115537											
EXD3	54932	broad.mit.edu	37	chr9	140242530	140242530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaaactcacctcggccGccctgcggtggtcttcacca	9	19	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr9:140242530G>A	uc004cmp.2	-	17	2187	c.1991C>T	c.(1990-1992)GCG>GTG	p.A664V	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.A315V|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	664					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CACCTCGGCCGCCCTGCGGTG	0.647													A	140242530	G	A	140242530	3	1	228	1	0	0	0	0	1	0	0	0	5299	1087	38	1	663	1	EXD3	9	140242530	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	248368	140242530	970901	519	115538											
UCN3	114131	broad.mit.edu	37	chr10	5415694	5415694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggagagatgctgatgcCggtccacttcctgctgctcc	13	13	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:5415694C>T	uc001ihx.1	+	2	235	c.11C>T	c.(10-12)CCG>CTG	p.P4L		NM_053049	NP_444277	Q969E3	UCN3_HUMAN	urocortin 3 preproprotein	4						extracellular region	hormone activity				0						ATGCTGATGCCGGTCCACTTC	0.602													T	5415694	C	T	5415694	3	4	228	1	0	0	0	0	1	0	0	0	16926	652	23	1	13	1	UCN3	10	5415694	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		5415694	130119053	520	115539											
KIN	22944	broad.mit.edu	37	chr10	7820854	7820854	+	Frame_Shift_Del	DEL	T	T	-													ctcttcaataaatttggcagTtttttcttcatcatcaaggt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:7820853_7820853GT>G	uc001ijt.3	-	4	600	c.506_506AC>C	c.(505-507)actfs	p.T169fs	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Frame_Shift_Del_p.T63fs	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	169					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAATTTGGCAGTTTTTTCTTC	0.458													-	7820854	T	-	7820854	7	5	228	1	0	1	0	1	0	0	0	0	8315	1725	60	0	712	0	KIN	10	7820854	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	2405160	7820854	127713893	521	115540											
FAM107B	83641	broad.mit.edu	37	chr10	14709682	14709684	+	In_Frame_Del	DEL	TTC	TTC	-													catttaggttcttctcgaaaTtcttcttcctaagcgccagc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:14709681_14709683ATTC>A	uc001ina.1	-	1	653_655	c.419_421GAAT>T	c.(418-423)gaattt>gTtt	p.140_141EF>V	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	72										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTTCTCGAAATTCTTCTTCCTA	0.409													-	14709684	TTC	-	14709682	7	5	228	1	0	1	0	1	0	0	0	0	5390	1490	52	0	516	0	FAM107B	10	14709682	In_Frame_Del	DEL	TTC	TCGA-D7-A4YV-01A-11D-A25D-08	6888828	14709682	120825065	522	115541											
PTPLA	9200	broad.mit.edu	37	chr10	17632370	17632370	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagagatcatttaatcaTccttttctacaatcacctct	3	11	5	1	rs140078758		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:17632370T>A	uc001ipg.2	-	7	895	c.860A>T	c.(859-861)GAT>GTT	p.D287V		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	287	Cytoplasmic (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						CATTTAATCATCCTTTTCTAC	0.323													A	17632370	T	A	17632370	3	1	228	1	0	0	0	0	1	0	0	0	12774	1435	50	5	10	5	PTPLA	10	17632370	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2922688	17632370	117902377	523	115542											
NSUN6	221078	broad.mit.edu	37	chr10	18834895	18834896	+	Frame_Shift_Ins	INS	-	-	A													attttacaaattttgcaataINSaaaaaacctatagagtcctt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:18834894_18834895T>TA	uc010qcp.1	-	10	1795_1796	c.1377_1378A>TA	c.(1375-1380)tttattfs	p.F459fs	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	459							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATTTTGCAATAAAAAAACCTA	0.396													A	18834896	-	A	18834895	7	5	228	1	0	1	1	0	0	0	0	0	10682	359	13	0	36	0	NSUN6	10	18834895	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	1202525	18834895	116699852	524	115543											
NEBL	10529	broad.mit.edu	37	chr10	21101815	21101815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcacaggatcgtccaCgacgggagtaaagcctctcc	10	14	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:21101815C>T	uc001iqi.2	-	24	2798	c.2401G>A	c.(2401-2403)GTG>ATG	p.V801M	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Missense_Mutation_p.V138M	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	801	Nebulin 23.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GGATCGTCCACGACGGGAGTA	0.463													T	21101815	C	T	21101815	3	4	228	1	0	0	0	0	1	0	0	0	10303	536	19	1	663	1	NEBL	10	21101815	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2266920	21101815	114432932	525	115544											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					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)				TGCACCACCATCCCCCCCTGG	0.527													-	29760116	C	-	29760116	7	5	228	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	8658301	29760116	105774631	526	115545											
RET	5979	broad.mit.edu	37	chr10	43606743	43606743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtgccaactgcagcaCgctaggggtggtcacctcag	13	13	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:43606743C>T	uc001jal.2	+	7	1542	c.1352C>T	c.(1351-1353)ACG>ATG	p.T451M	RET_uc001jak.1_Missense_Mutation_p.T451M|RET_uc010qez.1_Missense_Mutation_p.T197M	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	451	Extracellular (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	AACTGCAGCACGCTAGGGGTG	0.582		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43606743	C	T	43606743	3	4	228	1	0	0	0	0	1	0	0	0	13235	536	19	1	1378	1	RET	10	43606743	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	13846627	43606743	91928004	527	115546											
C10orf72	196740	broad.mit.edu	37	chr10	50315810	50315810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgcagcctccgccGtttggcgctgcggctgaaat	14	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:50315810G>A	uc001jhf.2	-	2	315	c.286C>T	c.(286-288)CGG>TGG	p.R96W	C10orf72_uc001jhh.2_Missense_Mutation_p.R96W	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	96	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						AGCCTCCGCCGTTTGGCGCTG	0.607													A	50315810	G	A	50315810	3	1	228	1	0	0	0	0	1	0	0	0	1615	1144	40	1	827	1	C10orf72	10	50315810	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6709067	50315810	85218937	528	115547											
OGDHL	55753	broad.mit.edu	37	chr10	50955158	50955158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccactgcctccaggtgggAggggttggcaaccagcgaca	15	12	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:50955158A>G	uc001jie.2	-	9	1226	c.1084T>C	c.(1084-1086)TCC>CCC	p.S362P	OGDHL_uc009xog.2_Missense_Mutation_p.S389P|OGDHL_uc010qgt.1_Missense_Mutation_p.S305P|OGDHL_uc010qgu.1_Missense_Mutation_p.S153P|OGDHL_uc009xoh.2_Missense_Mutation_p.S153P	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	362					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TCCAGGTGGGAGGGGTTGGCA	0.607													G	50955158	A	G	50955158	3	3	228	1	0	0	0	0	1	0	0	0	10840	304	11	3	2008	3	OGDHL	10	50955158	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	639348	50955158	84579589	529	115548											
OGDHL	55753	broad.mit.edu	37	chr10	50955201	50955201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgttccggttggtgacGcggttgatcctctcatggta	14	8	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:50955201G>A	uc001jie.2	-	9	1183	c.1041C>T	c.(1039-1041)CGC>CGT	p.R347R	OGDHL_uc009xog.2_Silent_p.R374R|OGDHL_uc010qgt.1_Silent_p.R290R|OGDHL_uc010qgu.1_Silent_p.R138R|OGDHL_uc009xoh.2_Silent_p.R138R	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	347					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGTTGGTGACGCGGTTGATCC	0.587													A	50955201	G	A	50955201	2	1	228	1	0	0	0	0	0	0	0	1	10840	1074	38	1		1	OGDHL	10	50955201	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	43	50955201	84579546	530	115549											
AGAP7	653268	broad.mit.edu	37	chr10	51465346	51465347	+	Frame_Shift_Ins	INS	-	-	G													ttttattggcatgaggagagINSgggggcgggttgagcttggg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:51465345_51465346A>AG	uc001jio.3	-	6	1236_1237	c.1110_1111T>CT	c.(1108-1113)ccctctfs	p.P370fs	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	370	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCATGAGGAGAGGGGGGCGGGT	0.53													G	51465347	-	G	51465346	7	5	228	1	0	1	1	0	0	0	0	0	373	987	35	0	885	0	AGAP7	10	51465346	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	510145	51465346	84069401	531	115550											
PCDH15	65217	broad.mit.edu	37	chr10	55581906	55581906	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgatagctgtgtcatagaGgacttaattttctcggcagg	12	6	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:55581906G>T	uc001jju.1	-	33	5975	c.5580C>A	c.(5578-5580)TCC>TCA	p.S1860S	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.S1857S|PCDH15_uc010qhw.1_Silent_p.S1820S|PCDH15_uc010qhx.1_Silent_p.S1791S|PCDH15_uc010qhy.1_Silent_p.S1867S|PCDH15_uc010qhz.1_Silent_p.S1862S|PCDH15_uc010qia.1_Silent_p.S1840S|PCDH15_uc010qib.1_Silent_p.S1837S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1860	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTCATAGAGGACTTAATTT	0.388										HNSCC(58;0.16)			T	55581906	G	T	55581906	2	4	228	1	0	0	0	0	0	0	0	1	11511	987	35	5		5	PCDH15	10	55581906	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4116560	55581906	79952841	532	115551											
ANK3	288	broad.mit.edu	37	chr10	61958143	61958143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgatccaaaaggaacgcGgccacatcctcatgcccctc	7	17	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:61958143G>A	uc001jky.2	-	14	1836	c.1644C>T	c.(1642-1644)GCC>GCT	p.A548A	ANK3_uc010qih.1_Silent_p.A531A|ANK3_uc001jkz.3_Silent_p.A542A|ANK3_uc001jlb.1_Silent_p.A77A|ANK3_uc001jlc.1_Silent_p.A209A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	548	ANK 15.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AAAGGAACGCGGCCACATCCT	0.498													A	61958143	G	A	61958143	2	1	228	1	0	0	0	0	0	0	0	1	622	1103	39	1		1	ANK3	10	61958143	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6376237	61958143	73576604	533	115552											
DNA2	1763	broad.mit.edu	37	chr10	70202690	70202690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttccgaagcaggcaTtagccagatattttggtgat	9	7	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70202690T>C	uc001jof.2	-	9	1657	c.1657A>G	c.(1657-1659)ATG>GTG	p.M553V	DNA2_uc001jog.1_Missense_Mutation_p.M467V|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	467					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						GAAGCAGGCATTAGCCAGATA	0.368													C	70202690	T	C	70202690	3	2	228	1	0	0	0	0	1	0	0	0	4596	1493	52	3	1835	3	DNA2	10	70202690	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	8244547	70202690	65332057	534	115553											
TET1	80312	broad.mit.edu	37	chr10	70332865	70332865	+	Frame_Shift_Del	DEL	C	C	-													tccttttccccaaagagcaaCccccaaagttacctctcaag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70332864_70332864AC>A	uc001jok.4	+	1	1274	c.769_769AC>A	c.(769-771)accfs	p.T257fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	257					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						CCAAAGAGCAACCCCCAAAGT	0.443													-	70332865	C	-	70332865	7	5	228	1	0	1	0	1	0	0	0	0	15766	507	18	0	772	0	TET1	10	70332865	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	130175	70332865	65201882	535	115554											
TET1	80312	broad.mit.edu	37	chr10	70332938	70332938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacgagtagaatctcttaaGttatctgattcttacctgga	7	8	4	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70332938G>T	uc001jok.3	+	2	1348	c.843G>T	c.(841-843)AAG>AAT	p.K281N		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	281					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AATCTCTTAAGTTATCTGATT	0.428													T	70332938	G	T	70332938	3	4	228	1	0	0	0	0	1	0	0	0	15766	1020	36	5	845	5	TET1	10	70332938	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	73	70332938	65201809	536	115555											
TET1	80312	broad.mit.edu	37	chr10	70450669	70450669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattcgctgatgccatccGctcctcacccagtgaaagag	8	14	1	3	rs146039331		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:70450669G>A	uc001jok.3	+	12	6014	c.5509G>A	c.(5509-5511)GCT>ACT	p.A1837T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1837					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GATGCCATCCGCTCCTCACCC	0.483													A	70450669	G	A	70450669	3	1	228	1	0	0	0	0	1	0	0	0	15766	1087	38	1	5551	1	TET1	10	70450669	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	117731	70450669	65084078	537	115556											
H2AFY2	55506	broad.mit.edu	37	chr10	71851665	71851665	+	Frame_Shift_Del	DEL	G	G	-													aaggccacgtcaggcaagaaGggggggaagaaatccaaggc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:71851664_71851664AG>A	uc001jqm.3	+	3	890	c.431_431AG>A	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				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						TCAGGCAAGAAGGGGGGGAAG	0.592													-	71851665	G	-	71851665	7	5	228	1	0	1	0	1	0	0	0	0	6930	991	35	0	442	0	H2AFY2	10	71851665	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	1400996	71851665	63683082	538	115557											
CDH23	64072	broad.mit.edu	37	chr10	73405660	73405660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatctccccgacctccGtccaggggaaggcggacatt	10	15	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:73405660G>A	uc001jrx.3	+	12	1590	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	CDH23_uc001jrw.3_Missense_Mutation_p.V405I|CDH23_uc001jry.2_Missense_Mutation_p.V21I|CDH23_uc001jrz.2_Missense_Mutation_p.V21I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	405	Cadherin 4.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCCGACCTCCGTCCAGGGGAA	0.567													A	73405660	G	A	73405660	3	1	228	1	0	0	0	0	1	0	0	0	3108	1145	40	1	1342	1	CDH23	10	73405660	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1553995	73405660	62129087	539	115558											
FUT11	170384	broad.mit.edu	37	chr10	75535344	75535344	+	Frame_Shift_Del	DEL	G	G	-													tattggcaaggtctggaccaGggggaagctctcactgccat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:75535344delG	uc001jva.2	+	3	1423	c.1380delG	c.(1378-1380)CAGfs	p.Q460fs	FUT11_uc001juz.1_3'UTR	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	460	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					GTCTGGACCAGGGGGAAGCTC	0.433													-	75535344	G	-	75535344	7	5	228	1	0	1	0	1	0	0	0	0	6103	991	35	0	1390	0	FUT11	10	75535344	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	2129684	75535344	59999403	540	115559											
KCNMA1	3778	broad.mit.edu	37	chr10	78713616	78713616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacatcccagtagagtcGtacttcttcacattggagtc	8	10	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:78713616G>A	uc001jxn.2	-	21	2604	c.2427C>T	c.(2425-2427)TAC>TAT	p.Y809Y	KCNMA1_uc001jxj.2_Silent_p.Y755Y|KCNMA1_uc001jxk.1_Silent_p.Y427Y|KCNMA1_uc009xrt.1_Silent_p.Y600Y|KCNMA1_uc001jxl.1_Silent_p.Y434Y|KCNMA1_uc001jxo.2_Silent_p.Y751Y|KCNMA1_uc001jxm.2_Silent_p.Y751Y|KCNMA1_uc001jxq.2_Silent_p.Y754Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	809	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	CAGTAGAGTCGTACTTCTTCA	0.488													A	78713616	G	A	78713616	2	1	228	1	0	0	0	0	0	0	0	1	8073	1140	40	1		1	KCNMA1	10	78713616	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3178272	78713616	56821131	541	115560											
FAM35A	54537	broad.mit.edu	37	chr10	88911847	88911847	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacagaatttctcagtataAttacctccagccaggttgct	6	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:88911847A>T	uc001kei.3	+	3	850	c.736A>T	c.(736-738)ATT>TTT	p.I246F		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	246										ovary(2)|skin(2)	4						TCTCAGTATAATTACCTCCAG	0.388													T	88911847	A	T	88911847	3	4	228	1	0	0	0	0	1	0	0	0	5553	101	4	5	738	5	FAM35A	10	88911847	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	10198231	88911847	46622900	542	115561											
PCGF5	84333	broad.mit.edu	37	chr10	93038067	93038067	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcgaccaagaattgatttCggttagaccaaggggcccag	11	9	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:93038067C>T	uc001khh.2	+	10	1012	c.765C>T	c.(763-765)TTC>TTT	p.F255F	PCGF5_uc010qnk.1_Silent_p.F255F|PCGF5_uc001khi.2_Silent_p.F255F	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			lung(1)	1						GAATTGATTTCGGTTAGACCA	0.388													T	93038067	C	T	93038067	2	4	228	1	0	0	0	0	0	0	0	1	11577	883	31	1		1	PCGF5	10	93038067	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4126220	93038067	42496680	543	115562											
ENTPD1	953	broad.mit.edu	37	chr10	97605164	97605164	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccaataatcaggaaacCtttggagctttggaccttgg	10	8	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:97605164C>A	uc001klh.3	+	6	948	c.624C>A	c.(622-624)ACC>ACA	p.T208T	ENTPD1_uc001kle.1_Silent_p.T215T|ENTPD1_uc001kli.3_Silent_p.T215T|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.T220T|ENTPD1_uc010qok.1_Silent_p.T100T|ENTPD1_uc010qol.1_Silent_p.T100T|ENTPD1_uc010qom.1_Silent_p.T208T|ENTPD1_uc010qon.1_Silent_p.T70T|ENTPD1_uc009xva.2_Silent_p.T70T|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	208	Extracellular (Potential).			T -> TGET (in Ref. 8; AA sequence).	cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ATCAGGAAACCTTTGGAGCTT	0.463													A	97605164	C	A	97605164	2	1	228	1	0	0	0	0	0	0	0	1	5138	668	24	5		5	ENTPD1	10	97605164	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4567097	97605164	37929583	544	115563											
DNTT	1791	broad.mit.edu	37	chr10	98079060	98079060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaccaacccaggccccccGaagactccaccaattgctgt	7	18	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:98079060G>A	uc001kmf.2	+	3	590	c.420G>A	c.(418-420)CCG>CCA	p.P140P	DNTT_uc001kmg.2_Silent_p.P140P	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	140					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGGCCCCCCGAAGACTCCAC	0.393													A	98079060	G	A	98079060	2	1	228	1	0	0	0	0	0	0	0	1	4680	1045	37	1		1	DNTT	10	98079060	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	473896	98079060	37455687	545	115564											
HPS6	79803	broad.mit.edu	37	chr10	103825418	103825418	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctagtcgcgtcgcgagggCccggcgcggagctagagcgg	19	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:103825418C>G	uc001kuj.2	+	1	272	c.187C>G	c.(187-189)CCC>GCC	p.P63A		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	63						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GTCGCGAGGGCCCGGCGCGGA	0.761									Hermansky-Pudlak_syndrome				G	103825418	C	G	103825418	3	3	228	1	0	0	0	0	1	0	0	0	7343	739	26	5	189	5	HPS6	10	103825418	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5746358	103825418	31709329	546	115565											
NFKB2	4791	broad.mit.edu	37	chr10	104161261	104161261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagccacccctgacccCgcccagcccagcaggtgaga	11	18	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:104161261C>T	uc001kvb.2	+	20	2544	c.2279C>T	c.(2278-2280)CCG>CTG	p.P760L	NFKB2_uc001kva.2_Missense_Mutation_p.P760L|NFKB2_uc001kvd.2_Missense_Mutation_p.P760L|NFKB2_uc009xxc.2_Missense_Mutation_p.P760L	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	760			Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).		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			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CCCCTGACCCCGCCCAGCCCA	0.602			T	IGH@	B-NHL								T	104161261	C	T	104161261	3	4	228	1	0	0	0	0	1	0	0	0	10376	652	23	1	2353	1	NFKB2	10	104161261	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	335843	104161261	31373486	547	115566											
TMEM180	79847	broad.mit.edu	37	chr10	104231116	104231116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcagctggcacgccatcGgaacttcctgtggttcgtga	13	13	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:104231116G>A	uc001kvt.2	+	6	1010	c.791G>A	c.(790-792)CGG>CAG	p.R264Q	TMEM180_uc001kvs.2_Missense_Mutation_p.R113Q|TMEM180_uc010qql.1_5'UTR|TMEM180_uc010qqm.1_Missense_Mutation_p.R113Q|TMEM180_uc001kvu.2_Missense_Mutation_p.R264Q	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	264						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCACGCCATCGGAACTTCCTG	0.622													A	104231116	G	A	104231116	3	1	228	1	0	0	0	0	1	0	0	0	16096	1116	39	1	805	1	TMEM180	10	104231116	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	69855	104231116	31303631	548	115567											
DUSP5	1847	broad.mit.edu	37	chr10	112258088	112258088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtgctgcccgacgaggCggcgcgcgcgcggctcctgc	16	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:112258088C>T	uc001kzd.2	+	1	464	c.209C>T	c.(208-210)GCG>GTG	p.A70V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	70	Nuclear localization signal (Potential).|Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCGACGAGGCGGCGCGCGCG	0.647													T	112258088	C	T	112258088	3	4	228	1	0	0	0	0	1	0	0	0	4828	768	27	1	211	1	DUSP5	10	112258088	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	8026972	112258088	23276659	549	115568											
VWA2	340706	broad.mit.edu	37	chr10	116049200	116049200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatccacgtggcagcttacGccgacctgcggtaccaccag	11	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:116049200G>A	uc001lbl.1	+	12	2395	c.2074G>A	c.(2074-2076)GCC>ACC	p.A692T	VWA2_uc001lbk.1_Missense_Mutation_p.A692T|VWA2_uc009xyf.1_Missense_Mutation_p.A388T	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	692	VWFA 3.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		GGCAGCTTACGCCGACCTGCG	0.647													A	116049200	G	A	116049200	3	1	228	1	0	0	0	0	1	0	0	0	17236	1087	38	1	2116	1	VWA2	10	116049200	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3791112	116049200	19485547	550	115569											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122263340	122263340	+	Frame_Shift_Del	DEL	T	T	-													tatgtttcagttttacagagTttttggatccgttccagaga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:122263339_122263339GT>G	uc001lev.1	+	1	418	c.66_66GT>G	c.(64-66)gagfs	p.E22fs	PPAPDC1A_uc010qtd.2_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc009xzl.1_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc001lew.1_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc001lex.1_Frame_Shift_Del_p.E22fs|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	22					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)		GTTTTACAGAGTTTTTGGATC	0.458													-	122263340	T	-	122263340	7	5	228	1	0	1	0	1	0	0	0	0	12293	1725	60	0	73	0	PPAPDC1A	10	122263340	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	6214140	122263340	13271407	551	115570											
HTRA1	5654	broad.mit.edu	37	chr10	124266390	124266390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactacatccagaccgacGccatcatcaacgtgagcctc	8	15	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:124266390G>A	uc001lgj.2	+	4	1089	c.961G>A	c.(961-963)GCC>ACC	p.A321T		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	321	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCAGACCGACGCCATCATCAA	0.592													A	124266390	G	A	124266390	3	1	228	1	0	0	0	0	1	0	0	0	7453	1087	38	1	975	1	HTRA1	10	124266390	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2003050	124266390	11268357	552	115571											
HMX3	340784	broad.mit.edu	37	chr10	124896863	124896863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgccgcaagaagaagacGcgcacagtcttctcgcgcag	13	13	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:124896863G>A	uc010quc.1	+	2	690	c.690G>A	c.(688-690)ACG>ACA	p.T230T		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	230	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGAAGAAGACGCGCACAGTCT	0.667													A	124896863	G	A	124896863	2	1	228	1	0	0	0	0	0	0	0	1	7248	1074	38	1		1	HMX3	10	124896863	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	630473	124896863	10637884	553	115572											
HMX3	340784	broad.mit.edu	37	chr10	124896921	124896921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaccttcgacatgaagCgctatctgagcagctcggag	11	12	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:124896921C>T	uc010quc.1	+	2	748	c.748C>T	c.(748-750)CGC>TGC	p.R250C		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	250	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGACATGAAGCGCTATCTGAG	0.612													T	124896921	C	T	124896921	3	4	228	1	0	0	0	0	1	0	0	0	7248	768	27	1	754	1	HMX3	10	124896921	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	58	124896921	10637826	554	115573											
MMP21	118856	broad.mit.edu	37	chr10	127462428	127462428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagcttgatgtcgacCgcggccccgggggcggccag	16	15	0	1	rs150959910		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:127462428C>T	uc001liu.2	-	2	669	c.669G>A	c.(667-669)GCG>GCA	p.A223A		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	223					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATGTCGACCGCGGCCCCGG	0.731													T	127462428	C	T	127462428	2	4	228	1	0	0	0	0	0	0	0	1	9660	639	23	1		1	MMP21	10	127462428	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2565507	127462428	8072319	555	115574											
MKI67	4288	broad.mit.edu	37	chr10	129913669	129913669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatagagaggaaagctggCgcccacagccttgctgggag	14	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:129913669C>T	uc001lke.2	-	7	1198	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	335					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				GGAAAGCTGGCGCCCACAGCC	0.493													T	129913669	C	T	129913669	3	4	228	1	0	0	0	0	1	0	0	0	9598	768	27	1	8803	1	MKI67	10	129913669	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2451241	129913669	5621078	556	115575											
KNDC1	85442	broad.mit.edu	37	chr10	134999993	134999993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggttccctgtgcaggcCgcagcacggacaggggccct	16	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:134999993C>T	uc001llz.1	+	6	1142	c.1141C>T	c.(1141-1143)CGC>TGC	p.R381C	KNDC1_uc001lma.1_Missense_Mutation_p.R316C	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	381					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		CTGTGCAGGCCGCAGCACGGA	0.672													T	134999993	C	T	134999993	3	4	228	1	0	0	0	0	1	0	0	0	8426	652	23	1	1163	1	KNDC1	10	134999993	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5086324	134999993	534754	557	115576											
MTG1	92170	broad.mit.edu	37	chr10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-													ctcgacgtcctgcggggccaCcccccggctgagactttgcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr10:135233644_135233644AC>A	uc001lnd.3	+	10	1084	c.980_980AC>A	c.(979-981)cacfs	p.H327fs	MTG1_uc010qve.2_Frame_Shift_Del_p.H192fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	327						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTGCGGGGCCACCCCCCGGCT	0.642													-	135233645	C	-	135233645	7	5	228	1	0	1	0	1	0	0	0	0	9926	506	18	0	1023	0	MTG1	10	135233645	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	233652	135233645	301102	558	115577											
ANO9	338440	broad.mit.edu	37	chr11	420496	420496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgcggcaccaggcgccGctgcaaccagaccatcttga	11	16	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:420496G>A	uc001lpi.2	-	19	1838	c.1753C>T	c.(1753-1755)CGG>TGG	p.R585W	ANO9_uc001lph.2_Missense_Mutation_p.R278W|ANO9_uc010qvv.1_Missense_Mutation_p.R441W	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	585	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						ACCAGGCGCCGCTGCAACCAG	0.701													A	420496	G	A	420496	3	1	228	1	0	0	0	0	1	0	0	0	704	1086	38	1	615	1	ANO9	11	420496	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		420496	134586020	559	115578											
DEAF1	10522	broad.mit.edu	37	chr11	688398	688398	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctcccatctgtgtggacGacaatcagtgtcgctttttc	9	11	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:688398G>A	uc001lqq.1	-	3	1143	c.450C>T	c.(448-450)GTC>GTT	p.V150V	DEAF1_uc009ycf.1_5'Flank	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	150					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|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		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)		CTGTGTGGACGACAATCAGTG	0.622													A	688398	G	A	688398	2	1	228	1	0	0	0	0	0	0	0	1	4380	1045	37	1		1	DEAF1	11	688398	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	267902	688398	134318118	560	115579											
MUC2	4583	broad.mit.edu	37	chr11	1094719	1094719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcccccacccccagcaCtgtgcagacgaccaccacca	6	21	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1094719C>T	uc001lsx.1	+	34	12920	c.12893C>T	c.(12892-12894)ACT>ATT	p.T4298I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4298						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	ACCCCCAGCACTGTGCAGACG	0.637													T	1094719	C	T	1094719	3	4	228	1	0	0	0	0	1	0	0	0	9975	565	20	4	5921	4	MUC2	11	1094719	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	406321	1094719	133911797	561	115580											
MUC5B	727897	broad.mit.edu	37	chr11	1253735	1253735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcccaacagtgccttctcGcgctgccactccatcatcaa	6	17	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1253735G>A	uc009ycr.1	+	32	4002	c.3876G>A	c.(3874-3876)TCG>TCA	p.S1292S	MUC5B_uc009yct.1_Silent_p.S633S|MUC5B_uc001ltb.2_Silent_p.S636S|MUC5B_uc001lta.2_Silent_p.S301S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	633	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GTGCCTTCTCGCGCTGCCACT	0.672													A	1253735	G	A	1253735	2	1	228	1	0	0	0	0	0	0	0	1	9979	1074	38	1		1	MUC5B	11	1253735	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	159016	1253735	133752781	562	115581											
MUC5B	727897	broad.mit.edu	37	chr11	1268790	1268790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcagccccacatcGgcccccataaccacggtggt	9	19	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1268790G>A	uc009ycr.1	+	50	12390	c.12264G>A	c.(12262-12264)TCG>TCA	p.S4088S	MUC5B_uc001ltb.2_Silent_p.S3563S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3560	7 X Cys-rich subdomain repeats.|Thr-rich.|HAT 2.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GCCCCACATCGGCCCCCATAA	0.701													A	1268790	G	A	1268790	2	1	228	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1268790	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	15055	1268790	133737726	563	115582											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605918	1605918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggatcccccacaagaacCgcagccccccttgcagcctc	7	20	0	1	rs145180041		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:1605918C>T	uc001ltu.1	-	1	596	c.562G>A	c.(562-564)GGT>AGT	p.G188S	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	188	8 X 4 AA repeats of C-C-X-P.					keratin filament					0		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)		CCACAAGAACCGCAGCCCCCC	0.677													T	1605918	C	T	1605918	3	4	228	1	0	0	0	0	1	0	0	0	8558	652	23	1	278	1	KRTAP5-1	11	1605918	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	337128	1605918	133400598	564	115583											
ART5	116969	broad.mit.edu	37	chr11	3660980	3660981	+	Frame_Shift_Ins	INS	-	-	GG													gtaaccaaaaagacttcatgINSggggggaatcagcacctcgc					rs74708481		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:3660979_3660980T>TGG	uc001lyb.1	-	1	1072_1073	c.679_680A>CCA	c.(679-681)catfs	p.H227fs	ART5_uc001lyc.1_Frame_Shift_Ins_p.H227fs|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	227						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.5													GG	3660981	-	GG	3660980	7	5	228	1	0	1	1	0	0	0	0	0	1000	1348	47	0	208	0	ART5	11	3660980	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	2055062	3660980	131345536	565	115584											
FAM160A2	84067	broad.mit.edu	37	chr11	6239210	6239210	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggggtaggccgtcGgccagggctggaggcggggg	22	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6239210G>A	uc001mcl.3	-	9	1965	c.1606C>T	c.(1606-1608)CGA>TGA	p.R536*	FAM160A2_uc001mck.3_Nonsense_Mutation_p.R550*|FAM160A2_uc001mcm.2_Nonsense_Mutation_p.R536*	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	536					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GTAGGCCGTCGGCCAGGGCTG	0.657													A	6239210	G	A	6239210	4	1	228	1	0	0	0	0	0	1	0	0	5469	1124	39	1	1328	1	FAM160A2	11	6239210	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2578230	6239210	128767306	566	115585											
CNGA4	1262	broad.mit.edu	37	chr11	6261463	6261463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaaccgctttctccgcGcgccccgcctcttcgaggcc	11	19	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6261463G>A	uc001mco.2	+	4	546	c.439G>A	c.(439-441)GCG>ACG	p.A147T	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A107T	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		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)		CTTTCTCCGCGCGCCCCGCCT	0.587													A	6261463	G	A	6261463	3	1	228	1	0	0	0	0	1	0	0	0	3599	1087	38	1	453	1	CNGA4	11	6261463	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	22253	6261463	128745053	567	115586											
RRP8	23378	broad.mit.edu	37	chr11	6622702	6622702	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgaaacttgttcttAcatcttctcttgttcttttg	8	8	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6622702A>G	uc001med.2	-	3	673	c.594T>C	c.(592-594)TGT>TGC	p.C198C	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	198					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						ACTTGTTCTTACATCTTCTCT	0.552													G	6622702	A	G	6622702	2	3	228	1	0	0	0	0	0	0	0	1	13690	389	14	3		3	RRP8	11	6622702	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	361239	6622702	128383814	568	115587											
DCHS1	8642	broad.mit.edu	37	chr11	6651257	6651257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgcagccggaagtggcCgtccccgccagatgccagcc	14	15	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6651257C>T	uc001mem.1	-	10	5178	c.4768G>A	c.(4768-4770)GGC>AGC	p.G1590S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1590	Cadherin 15.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGAAGTGGCCGTCCCCGCCA	0.682													T	6651257	C	T	6651257	3	4	228	1	0	0	0	0	1	0	0	0	4287	652	23	1	5176	1	DCHS1	11	6651257	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	28555	6651257	128355259	569	115588											
OR2D2	120776	broad.mit.edu	37	chr11	6913341	6913341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatgatgttagggtaacGcagaggattgcagattgcaa	14	5	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:6913341G>A	uc010rau.1	-	1	391	c.391C>T	c.(391-393)CGT>TGT	p.R131C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTAGGGTAACGCAGAGGATTG	0.498													A	6913341	G	A	6913341	3	1	228	1	0	0	0	0	1	0	0	0	10994	1087	38	1	538	1	OR2D2	11	6913341	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	262084	6913341	128093175	570	115589											
MICAL2	9645	broad.mit.edu	37	chr11	12183705	12183706	+	Frame_Shift_Ins	INS	-	-	G													cacacgactcctgaaccatgINSggggaaaacgaggatgagaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:12183704_12183705T>TG	uc001mjz.3	+	2	290_291	c.2_3T>TG	c.(1-3)atgfs	p.M1fs	MICAL2_uc010rch.1_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mjy.3_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mka.3_Frame_Shift_Ins_p.M1fs|MICAL2_uc010rci.2_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mkb.3_Frame_Shift_Ins_p.M1fs|MICAL2_uc001mkc.3_Frame_Shift_Ins_p.M1fs	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1						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)		TCCTGAACCATGGGGGAAAACG	0.564													G	12183706	-	G	12183705	7	5	228	1	0	1	1	0	0	0	0	0	9570	1348	47	0	5	0	MICAL2	11	12183705	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	5270364	12183705	122822811	571	115590											
MICAL2	9645	broad.mit.edu	37	chr11	12225871	12225871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacctgggagccaaagtggtCgtggtggagaagagggactc	17	7	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:12225871C>T	uc001mjz.2	+	4	627	c.339C>T	c.(337-339)GTC>GTT	p.V113V	MICAL2_uc010rch.1_Silent_p.V113V|MICAL2_uc001mjy.2_Silent_p.V113V|MICAL2_uc001mka.2_Silent_p.V113V|MICAL2_uc010rci.1_Silent_p.V113V|MICAL2_uc001mkb.2_Silent_p.V113V|MICAL2_uc001mkc.2_Silent_p.V113V	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	113	FAD (Potential).					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CCAAAGTGGTCGTGGTGGAGA	0.567													T	12225871	C	T	12225871	2	4	228	1	0	0	0	0	0	0	0	1	9570	871	31	1		1	MICAL2	11	12225871	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	42166	12225871	122780645	572	115591											
MICAL2	9645	broad.mit.edu	37	chr11	12264287	12264287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaggcggctcaccttGcctccatgtttggacacggg	14	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:12264287G>A	uc001mjz.2	+	20	2914	c.2626G>A	c.(2626-2628)GCC>ACC	p.A876T	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.A876T|MICAL2_uc010rci.1_Missense_Mutation_p.A876T|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	876						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GGCTCACCTTGCCTCCATGTT	0.512													A	12264287	G	A	12264287	3	1	228	1	0	0	0	0	1	0	0	0	9570	1319	46	2	2696	2	MICAL2	11	12264287	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	38416	12264287	122742229	573	115592											
FAR1	84188	broad.mit.edu	37	chr11	13749177	13749177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgggaactaagaagtaCgtattgaatgaagaaatgtc	11	4	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:13749177C>T	uc001mld.2	+	11	1487	c.1332C>T	c.(1330-1332)TAC>TAT	p.Y444Y		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	444					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			ovary(1)|skin(1)	2						CTAAGAAGTACGTATTGAATG	0.373													T	13749177	C	T	13749177	2	4	228	1	0	0	0	0	0	0	0	1	5674	547	19	1		1	FAR1	11	13749177	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1484890	13749177	121257339	574	115593											
SOX6	55553	broad.mit.edu	37	chr11	16133369	16133369	+	Frame_Shift_Del	DEL	G	G	-													ctggtttgtatgttattccaGgggggaagaggaatccctgt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:16133368_16133368AG>A	uc001mme.3	-	6	951	c.918_918CT>T	c.(916-918)cctfs	p.P306fs	SOX6_uc001mmd.3_Frame_Shift_Del_p.P296fs|SOX6_uc001mmf.3_Frame_Shift_Del_p.P293fs|SOX6_uc001mmg.3_Frame_Shift_Del_p.P293fs	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	293					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						ATGTTATTCCAGGGGGGAAGA	0.473													-	16133369	G	-	16133369	7	5	228	1	0	1	0	1	0	0	0	0	14955	1000	35	0	1690	0	SOX6	11	16133369	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	2384192	16133369	118873147	575	115594											
NAV2	89797	broad.mit.edu	37	chr11	20078176	20078176	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaaggtatgagttaggTgagtaagcagtcaaaattct	11	6	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:20078176T>C	uc010rdm.1	+	21	5360	c.4999_splice	c.e21+2	p.V1667_splice	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2							nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						ATGAGTTAGGTGAGTAAGCAG	0.448													C	20078176	T	C	20078176	5	2	228	1	0	0	0	0	0	0	1	0	10184	1711	59	3		3	NAV2	11	20078176	Splice_Site	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	3944807	20078176	114928340	576	115595											
TCP11L1	55346	broad.mit.edu	37	chr11	33087384	33087384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcattacagacagttttAatggaccagtctcgcttcca	6	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:33087384A>G	uc001mud.2	+	8	1381	c.981A>G	c.(979-981)TTA>TTG	p.L327L	TCP11L1_uc009yju.2_Silent_p.L142L|TCP11L1_uc010rei.1_Silent_p.L327L|TCP11L1_uc001mue.2_Silent_p.L327L|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	327											0						AGACAGTTTTAATGGACCAGT	0.592											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33087384	A	G	33087384	2	3	228	1	0	0	0	0	0	0	0	1	15711	359	13	3		3	TCP11L1	11	33087384	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	13009208	33087384	101919132	577	115596											
COMMD9	29099	broad.mit.edu	37	chr11	36293244	36293244	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacataaggaggaagagtgGgaatggcatcaggtaccaag	14	5	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:36293244G>T	uc009yki.1	-	2		c.328C>A						Q9P000	COMD9_HUMAN	Homo sapiens cDNA FLJ45212 fis, clone BRCAN2018667.											ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				AGGAAGAGTGGGAATGGCATC	0.358													T	36293244	G	T	36293244	1	4	228	0	1	0	0	0	0	0	0	0	3723	1247	43	5		5	COMMD9	11	36293244	RNA	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3205860	36293244	98713272	578	115597											
RAG1	5896	broad.mit.edu	37	chr11	36595554	36595554	+	Frame_Shift_Del	DEL	A	A	-													agccaaacttgcagctcagcAaaaaactcaaaactgtgctt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:36595553_36595553CA>C	uc021qgb.1	+	0	699	c.699_699CA>C	c.(697-699)agcfs	p.S233fs	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Frame_Shift_Del_p.S233fs	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	233	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	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)				TGCAGCTCAGCAAAAAACTCA	0.522									Familial Hemophagocytic Lymphohistiocytosis				-	36595554	A	-	36595554	7	5	228	1	0	1	0	1	0	0	0	0	13003	131	5	0	702	0	RAG1	11	36595554	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	302310	36595554	98410962	579	115598											
CHST1	8534	broad.mit.edu	37	chr11	45672341	45672341	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctctcctcgcacagtcGctcggccagcccggcctctg	13	18	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:45672341G>A	uc001mys.1	-	4	804	c.133C>T	c.(133-135)CGA>TGA	p.R45*		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	45	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCGCACAGTCGCTCGGCCAGC	0.667													A	45672341	G	A	45672341	4	1	228	1	0	0	0	0	0	1	0	0	3397	1095	38	1	1106	1	CHST1	11	45672341	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	9076787	45672341	89334175	580	115599											
CREB3L1	90993	broad.mit.edu	37	chr11	46339020	46339020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccctggccgcagacggcGtctacacggccagccagagt	12	17	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:46339020G>A	uc001ncf.2	+	10	1675	c.1240G>A	c.(1240-1242)GTC>ATC	p.V414I	CREB3L1_uc001ncg.2_Missense_Mutation_p.V48I	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	414	Lumenal (Potential).				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)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		CGCAGACGGCGTCTACACGGC	0.657			T	FUS	myxofibrosarcoma								A	46339020	G	A	46339020	3	1	228	1	0	0	0	0	1	0	0	0	3856	1145	40	1	1278	1	CREB3L1	11	46339020	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	666679	46339020	88667496	581	115600											
ZNF408	79797	broad.mit.edu	37	chr11	46726912	46726912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggcccacttgtgcccGgtgtgtggcaaggccctccg	17	13	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:46726912G>A	uc001nde.1	+	5	1892	c.1662G>A	c.(1660-1662)CCG>CCA	p.P554P	ZNF408_uc010rgw.1_Silent_p.P546P	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	554	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						ACTTGTGCCCGGTGTGTGGCA	0.667													A	46726912	G	A	46726912	2	1	228	1	0	0	0	0	0	0	0	1	17885	1103	39	1		1	ZNF408	11	46726912	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	387892	46726912	88279604	582	115601											
LRP4	4038	broad.mit.edu	37	chr11	46918528	46918528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagcggaactgttctgCcgtacacatggaggtggctg	15	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:46918528C>T	uc001ndn.3	-	8	960	c.814G>A	c.(814-816)GCA>ACA	p.A272T		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	272	Extracellular (Potential).|LDL-receptor class A 7.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		AACTGTTCTGCCGTACACATG	0.552													T	46918528	C	T	46918528	3	4	228	1	0	0	0	0	1	0	0	0	8959	739	26	2	5027	2	LRP4	11	46918528	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	191616	46918528	88087988	583	115602											
PACSIN3	29763	broad.mit.edu	37	chr11	47202237	47202237	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagtgtgccatactgGgggcctgcagggagggacag	16	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:47202237G>T	uc001ndw.2	-	5	554	c.216C>A	c.(214-216)CCC>CCA	p.P72P	PACSIN3_uc001ndx.2_Silent_p.P72P|PACSIN3_uc001ndy.2_Silent_p.P72P|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	72	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0						TGCCATACTGGGGGCCTGCAG	0.652													T	47202237	G	T	47202237	2	4	228	1	0	0	0	0	0	0	0	1	11376	1219	43	5		5	PACSIN3	11	47202237	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	283709	47202237	87804279	584	115603											
OR1S1	219959	broad.mit.edu	37	chr11	57982468	57982468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctatcctttgctgatatTtcctccatttccaactcagt	3	12	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:57982468T>C	uc010rkc.1	+	1	252	c.252T>C	c.(250-252)ATT>ATC	p.I84I		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				TTGCTGATATTTCCTCCATTT	0.433													C	57982468	T	C	57982468	2	2	228	1	0	0	0	0	0	0	0	1	10972	1829	64	3		3	OR1S1	11	57982468	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	10780231	57982468	77024048	585	115604											
OR5B2	390190	broad.mit.edu	37	chr11	58190331	58190331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcacctacactggccGtcatggtggtggtgtagtgt	15	9	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:58190331G>A	uc010rkg.1	-	1	404	c.404C>T	c.(403-405)ACG>ATG	p.T135M		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACACTGGCCGTCATGGTGGT	0.507													A	58190331	G	A	58190331	3	1	228	1	0	0	0	0	1	0	0	0	11150	1145	40	1	529	1	OR5B2	11	58190331	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	207863	58190331	76816185	586	115605											
GLYATL2	219970	broad.mit.edu	37	chr11	58602201	58602201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatcctagaaaatcctggaGgcagcgttcaatatatttca	7	8	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:58602201G>T	uc001nnd.3	-	6	717	c.586C>A	c.(586-588)CTC>ATC	p.L196I	GLYATL2_uc009ymq.2_Missense_Mutation_p.L196I	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	196						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AAATCCTGGAGGCAGCGTTCA	0.448													T	58602201	G	T	58602201	3	4	228	1	0	0	0	0	1	0	0	0	6481	1000	35	5	302	5	GLYATL2	11	58602201	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	411870	58602201	76404315	587	115606											
OSBP	5007	broad.mit.edu	37	chr11	59344479	59344479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagctctgagaagtagtAcatgttttctgcattcttcc	8	9	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:59344479A>G	uc001noc.1	-	13	2560	c.2080T>C	c.(2080-2082)TAC>CAC	p.Y694H	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	694					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAGAAGTAGTACATGTTTTCT	0.458													G	59344479	A	G	59344479	3	3	228	1	0	0	0	0	1	0	0	0	11273	391	14	3	351	3	OSBP	11	59344479	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	742278	59344479	75662037	588	115607											
PATL1	219988	broad.mit.edu	37	chr11	59419061	59419061	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcatcaatcatttttcGgggattattcacactagaaa	6	8	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:59419061G>A	uc001noe.3	-	12	1623	c.1480C>T	c.(1480-1482)CGA>TGA	p.R494*	PATL1_uc009yms.1_Nonsense_Mutation_p.R464*|PATL1_uc010rkw.1_Nonsense_Mutation_p.R199*	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	494	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						ATCATTTTTCGGGGATTATTC	0.368													A	59419061	G	A	59419061	4	1	228	1	0	0	0	0	0	1	0	0	11475	1124	39	1	864	1	PATL1	11	59419061	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	74582	59419061	75587455	589	115608											
AHNAK	79026	broad.mit.edu	37	chr11	62303479	62303479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcctgcacaaagacgCcgtcgtccctctgggcgatg	10	16	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:62303479C>T	uc001ntl.2	-	3	392	c.92G>A	c.(91-93)GGC>GAC	p.G31D	AHNAK_uc001ntk.1_Missense_Mutation_p.G31D	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	31	PDZ.				nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CACAAAGACGCCGTCGTCCCT	0.647													T	62303479	C	T	62303479	3	4	228	1	0	0	0	0	1	0	0	0	414	739	26	2	17708	2	AHNAK	11	62303479	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2884418	62303479	72703037	590	115609											
INTS5	80789	broad.mit.edu	37	chr11	62414812	62414812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcttccctcagccaTgacagccactaaggtgcagg	12	13	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:62414812T>C	uc001nud.2	-	2	2793	c.2740A>G	c.(2740-2742)ATG>GTG	p.M914V	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	914					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CCCTCAGCCATGACAGCCACT	0.617													C	62414812	T	C	62414812	3	2	228	1	0	0	0	0	1	0	0	0	7781	1464	51	3	323	3	INTS5	11	62414812	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	111333	62414812	72591704	591	115610											
LGALS12	85329	broad.mit.edu	37	chr11	63283104	63283104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcctccttcgcagacagAactctggcctggatctcccg	11	15	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:63283104A>G	uc001nxa.2	+	8	1124	c.783A>G	c.(781-783)AGA>AGG	p.R261R	LGALS12_uc001nxb.2_Silent_p.R252R|LGALS12_uc001nxc.2_Silent_p.R262R|LGALS12_uc001nxd.2_Silent_p.R200R|LGALS12_uc001nxe.2_Silent_p.R191R|LGALS12_uc009yot.2_Silent_p.R221R	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12 isoform	261	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			ovary(2)	2						TCGCAGACAGAACTCTGGCCT	0.557													G	63283104	A	G	63283104	2	3	228	1	0	0	0	0	0	0	0	1	8739	243	9	3		3	LGALS12	11	63283104	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	868292	63283104	71723412	592	115611											
RARRES3	5920	broad.mit.edu	37	chr11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacctgattgagattttcCgccttggctatgagcactgg	12	9	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:63307030C>T	uc001nxf.3	+	2	120	c.52C>T	c.(52-54)CGC>TGC	p.R18C		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	18					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						TGAGATTTTCCGCCTTGGCTA	0.483													T	63307030	C	T	63307030	3	4	228	1	0	0	0	0	1	0	0	0	13057	652	23	1	58	1	RARRES3	11	63307030	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	23926	63307030	71699486	593	115612											
SLC22A11	55867	broad.mit.edu	37	chr11	64337280	64337280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgctgttcttcctcccGgagacccagggacttccgct	11	14	1	1	rs34836439		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64337280G>A	uc001oai.2	+	9	1913	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P	SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Silent_p.P405P	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	513	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TCTTCCTCCCGGAGACCCAGG	0.622													A	64337280	G	A	64337280	2	1	228	1	0	0	0	0	0	0	0	1	14442	1103	39	1		1	SLC22A11	11	64337280	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1030250	64337280	70669236	594	115613											
SF1	7536	broad.mit.edu	37	chr11	64540917	64540917	+	Frame_Shift_Del	DEL	G	G	-													ccaacctgtcctcagggttaGgggggatgcccaggtctcct							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64540916_64540916AG>A	uc001obb.2	-	2	674	c.222_222CT>T	c.(220-222)cctfs	p.P74fs	SF1_uc010rnn.2_Frame_Shift_Del_p.P48fs|SF1_uc001oaz.2_Frame_Shift_Del_p.P199fs|SF1_uc001oba.2_Frame_Shift_Del_p.P74fs|SF1_uc001obd.2_Frame_Shift_Del_p.P74fs|SF1_uc001obc.2_Frame_Shift_Del_p.P74fs|SF1_uc001obe.2_Intron|SF1_uc010rno.2_Intron	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	74					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.P74fs*63(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCTCAGGGTTAGGGGGGATGC	0.453													-	64540917	G	-	64540917	7	5	228	1	0	1	0	1	0	0	0	0	14145	1000	35	0	1880	0	SF1	11	64540917	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	203637	64540917	70465599	595	115614											
EHD1	10938	broad.mit.edu	37	chr11	64622143	64622143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgccgtagccgtgccCgaacggcccgttcatggtgc	12	18	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64622143C>T	uc001obu.1	-	5	1522	c.1267G>A	c.(1267-1269)GGG>AGG	p.G423R	EHD1_uc001obt.1_Missense_Mutation_p.G106R|EHD1_uc001obv.1_Missense_Mutation_p.G423R|EHD1_uc010rnq.1_Missense_Mutation_p.G437R	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	423					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				0						TAGCCGTGCCCGAACGGCCCG	0.667													T	64622143	C	T	64622143	3	4	228	1	0	0	0	0	1	0	0	0	4977	652	23	1	341	1	EHD1	11	64622143	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	81226	64622143	70384373	596	115615											
C11orf2	738	broad.mit.edu	37	chr11	64876853	64876853	+	Frame_Shift_Del	DEL	G	G	-													tgcgacagccctggggagaaGgggggtgccacaccacctgc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64876852_64876852AG>A	uc001ocr.1	+	5	1584	c.1544_1544AG>A	c.(1543-1545)aagfs	p.K515fs	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Frame_Shift_Del_p.K391fs	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	515					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CCTGGGGAGAAGGGGGGTGCC	0.622													-	64876853	G	-	64876853	7	5	228	1	0	1	0	1	0	0	0	0	1633	991	35	0	1567	0	C11orf2	11	64876853	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	254710	64876853	70129663	597	115616											
SLC22A20	440044	broad.mit.edu	37	chr11	64981434	64981434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgctgctgccctgcGgcctgctggcctgccacaac	11	19	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:64981434G>A	uc010roc.1	+	1	88	c.85G>A	c.(85-87)GGC>AGC	p.G29S	SLC22A20_uc010rob.1_Missense_Mutation_p.G29S	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	29	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						GCTGCCCTGCGGCCTGCTGGC	0.667													A	64981434	G	A	64981434	3	1	228	1	0	0	0	0	1	0	0	0	14451	1116	39	1	93	1	SLC22A20	11	64981434	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	104581	64981434	70025082	598	115617											
LTBP3	4054	broad.mit.edu	37	chr11	65308616	65308617	+	Frame_Shift_Ins	INS	-	-	T													ctgagctgtagactgggcagINSgggtagatttcgcagtggtc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65308615_65308616A>AT	uc001oej.3	-	19	3143_3144	c.2874_2875T>AT	c.(2872-2877)ccctgcfs	p.P958fs	LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Frame_Shift_Ins_p.P388fs|LTBP3_uc010roi.2_Frame_Shift_Ins_p.P841fs|LTBP3_uc001oei.3_Frame_Shift_Ins_p.P958fs|LTBP3_uc010roj.2_Frame_Shift_Ins_p.P659fs|LTBP3_uc010rok.1_Frame_Shift_Ins_p.P869fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	958	TB 3.					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						TAGACTGGGCAGGGGTAGATTT	0.614											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65308617	-	T	65308616	7	5	228	1	0	1	1	0	0	0	0	0	9075	987	35	0	1073	0	LTBP3	11	65308616	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	327182	65308616	69697900	599	115618											
EHBP1L1	254102	broad.mit.edu	37	chr11	65347567	65347567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggagtctaaggggcagCggaaggtgctggccacggcc	17	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65347567C>T	uc001oeo.3	+	5	593	c.328C>T	c.(328-330)CGG>TGG	p.R110W	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	110										central_nervous_system(1)	1						TAAGGGGCAGCGGAAGGTGCT	0.652													T	65347567	C	T	65347567	3	4	228	1	0	0	0	0	1	0	0	0	4976	759	27	1	346	1	EHBP1L1	11	65347567	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	38951	65347567	69658949	600	115619											
SIPA1	6494	broad.mit.edu	37	chr11	65408583	65408583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgaggccaggccccccaCgccagccagcccccgtgccc	12	22	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65408583C>T	uc001ofb.2	+	2	358	c.191C>T	c.(190-192)ACG>ATG	p.T64M	SIPA1_uc010rom.1_Missense_Mutation_p.T64M|SIPA1_uc001ofd.2_Missense_Mutation_p.T64M	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	64					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				0						AGGCCCCCCACGCCAGCCAGC	0.736													T	65408583	C	T	65408583	3	4	228	1	0	0	0	0	1	0	0	0	14328	536	19	1	193	1	SIPA1	11	65408583	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	61016	65408583	69597933	601	115620											
MUS81	80198	broad.mit.edu	37	chr11	65632486	65632486	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtcccttcttccctcAgggccacaccctacgcagcc	6	21	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:65632486A>G	uc001ofv.3	+	13	1626	c.1273_splice	c.e13-2	p.G425_splice	MUS81_uc001ofw.3_Intron|MUS81_uc001ofx.3_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog						DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		TTCTTCCCTCAGGGCCACACC	0.642								Homologous_recombination					G	65632486	A	G	65632486	5	3	228	1	0	0	0	0	0	0	1	0	9988	202	7	3	1321	3	MUS81	11	65632486	Splice_Site	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	223903	65632486	69374030	602	115621											
BBS1	582	broad.mit.edu	37	chr11	66287195	66287195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcctggtgcttgacccCgaggccttcaccattttagc	10	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66287195C>T	uc001oij.1	+	8	711	c.699C>T	c.(697-699)CCC>CCT	p.P233P	BBS1_uc001oii.1_Silent_p.P270P|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Intron|BBS1_uc001oik.1_Silent_p.P157P|BBS1_uc001oil.1_Silent_p.P233P	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	233					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						TGCTTGACCCCGAGGCCTTCA	0.597									Bardet-Biedl_syndrome				T	66287195	C	T	66287195	2	4	228	1	0	0	0	0	0	0	0	1	1335	639	23	1		1	BBS1	11	66287195	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	654709	66287195	68719321	603	115622											
LRFN4	78999	broad.mit.edu	37	chr11	66625421	66625421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggccccctgacttccGcaacatgacgggactggtgg	14	14	0	2	rs143224387	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66625421G>A	uc001ojr.2	+	1	546	c.206G>A	c.(205-207)CGC>CAC	p.R69H	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.R69H|LRFN4_uc001ojs.2_Missense_Mutation_p.R69H	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	69	Extracellular (Potential).|LRR 1.					integral to membrane					0						CCTGACTTCCGCAACATGACG	0.662													A	66625421	G	A	66625421	3	1	228	1	0	0	0	0	1	0	0	0	8940	1087	38	1	208	1	LRFN4	11	66625421	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	338226	66625421	68381095	604	115623											
PC	5091	broad.mit.edu	37	chr11	66638891	66638891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcctggcaggcctgggCgaagtccgctcgctcagaga	14	13	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66638891C>T	uc001ojn.1	-	4	431	c.382G>A	c.(382-384)GCC>ACC	p.A128T	PC_uc001ojo.1_Missense_Mutation_p.A128T|PC_uc001ojp.1_Missense_Mutation_p.A128T	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	128	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAGGCCTGGGCGAAGTCCGCT	0.632													T	66638891	C	T	66638891	3	4	228	1	0	0	0	0	1	0	0	0	11497	768	27	1	3226	1	PC	11	66638891	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	13470	66638891	68367625	605	115624											
PC	5091	broad.mit.edu	37	chr11	66638919	66638919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgctcagagaggaacccGtagccagggtgcactgcatc	13	13	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:66638919G>A	uc001ojn.1	-	4	403	c.354C>T	c.(352-354)TAC>TAT	p.Y118Y	PC_uc001ojo.1_Silent_p.Y118Y|PC_uc001ojp.1_Silent_p.Y118Y	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	118	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGAGGAACCCGTAGCCAGGGT	0.627													A	66638919	G	A	66638919	2	1	228	1	0	0	0	0	0	0	0	1	11497	1140	40	1		1	PC	11	66638919	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	28	66638919	68367597	606	115625											
CORO1B	57175	broad.mit.edu	37	chr11	67207611	67207611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatctcgcacttgctgaCctccaggccccgcttgggca	12	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:67207611C>T	uc001olj.1	-	7	1021	c.985G>A	c.(985-987)GTC>ATC	p.V329I	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.V329I|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.V329I	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	329					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CACTTGCTGACCTCCAGGCCC	0.617													T	67207611	C	T	67207611	3	4	228	1	0	0	0	0	1	0	0	0	3754	507	18	4	500	4	CORO1B	11	67207611	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	568692	67207611	67798905	607	115626											
XRRA1	143570	broad.mit.edu	37	chr11	74554923	74554923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcctctgtaatgttccGgggatcccgcaagcgaatga	13	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:74554923G>A	uc009yub.2	-	18	2433	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_Missense_Mutation_p.R324W|XRRA1_uc001ovo.2_Missense_Mutation_p.R309W|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.R426W|XRRA1_uc001ovr.2_Missense_Mutation_p.R324W|XRRA1_uc001ovs.1_3'UTR	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	701					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						GTAATGTTCCGGGGATCCCGC	0.552													A	74554923	G	A	74554923	3	1	228	1	0	0	0	0	1	0	0	0	17458	1115	39	1	285	1	XRRA1	11	74554923	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7347312	74554923	60451593	608	115627											
MYO7A	4647	broad.mit.edu	37	chr11	76910863	76910863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggataaccccaaccccGgtgagtggctgctggtatgg	14	11	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:76910863G>A	uc001oyb.2	+	35	5124	c.4852G>A	c.(4852-4854)GCA>ACA	p.A1618T	MYO7A_uc010rsm.1_Missense_Mutation_p.A1569T|MYO7A_uc001oyc.2_Missense_Mutation_p.A1580T|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.G791S	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1618	SH3.				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			ovary(3)|breast(1)	4						CCCCAACCCCGGTGAGTGGCT	0.453													A	76910863	G	A	76910863	3	1	228	1	0	0	0	0	1	0	0	0	10082	1130	39	1	5020	1	MYO7A	11	76910863	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2355940	76910863	58095653	609	115628											
MRE11A	4361	broad.mit.edu	37	chr11	94189473	94189473	+	Frame_Shift_Del	DEL	T	T	-													catcatcttcttcattagtaTttttttgtctggtttctctg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:94189472_94189472AT>A	uc009ywj.2	-	13	1862	c.1542_1542AT>T	c.(1540-1542)aatfs	p.N514fs	MRE11A_uc001peu.2_Frame_Shift_Del_p.N511fs|MRE11A_uc001pev.2_Frame_Shift_Del_p.N511fs			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	511					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)				CTTCATTAGTATTTTTTTGTC	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				-	94189473	T	-	94189473	7	5	228	1	0	1	0	1	0	0	0	0	9759	1493	52	0	622	0	MRE11A	11	94189473	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	17278610	94189473	40817043	610	115629											
BIRC2	329	broad.mit.edu	37	chr11	102248749	102248749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagaacaattgaggagGttgcaagaagaacgaacttg	13	5	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:102248749G>A	uc001pgy.2	+	9	3091	c.1692G>A	c.(1690-1692)AGG>AGA	p.R564R	BIRC2_uc010ruq.1_Silent_p.R515R|BIRC2_uc010rur.1_Silent_p.R564R	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	baculoviral IAP repeat-containing protein 2	564					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			ovary(1)|lung(1)|breast(1)	3	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)		AATTGAGGAGGTTGCAAGAAG	0.358													A	102248749	G	A	102248749	2	1	228	1	0	0	0	0	0	0	0	1	1435	1252	44	4		4	BIRC2	11	102248749	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8059276	102248749	32757767	611	115630											
MMP8	4317	broad.mit.edu	37	chr11	102586154	102586154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgtagctgaggatgcCttctccagaagtacctaacg	9	11	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:102586154C>A	uc001phe.2	-	7	1016	c.917G>T	c.(916-918)AGG>ATG	p.R306M	MMP8_uc010rut.1_Missense_Mutation_p.R241M|MMP8_uc010ruu.1_Missense_Mutation_p.R283M	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	306	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	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)		CTGAGGATGCCTTCTCCAGAA	0.413													A	102586154	C	A	102586154	3	1	228	1	0	0	0	0	1	0	0	0	9668	681	24	5	502	5	MMP8	11	102586154	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	337405	102586154	32420362	612	115631											
ATM	472	broad.mit.edu	37	chr11	108129784	108129784	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctaatgaatgacattgcAgatatttgtaaaagtttagt	8	3	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:108129784A>C	uc001pkb.1	+	16	2833	c.2448A>C	c.(2446-2448)GCA>GCC	p.A816A	ATM_uc009yxr.1_Silent_p.A816A	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	816					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		ATGACATTGCAGATATTTGTA	0.244			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)			C	108129784	A	C	108129784	2	2	228	1	0	0	0	0	0	0	0	1	1109	175	7	5		5	ATM	11	108129784	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	5543630	108129784	26876732	613	115632											
TEX12	56158	broad.mit.edu	37	chr11	112042549	112042549	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagatagatgaactcttcaaAgaagccaatgctattgaaaa	8	6	2	5			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:112042549A>T	uc001pnc.2	+	5	414	c.282A>T	c.(280-282)AAA>AAT	p.K94N	TEX12_uc001pnd.2_Missense_Mutation_p.K94N	NM_031275	NP_112565	Q9BXU0	TEX12_HUMAN	testis expressed sequence 12	94											0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AACTCTTCAAAGAAGCCAATG	0.313													T	112042549	A	T	112042549	3	4	228	1	0	0	0	0	1	0	0	0	15772	69	3	5	296	5	TEX12	11	112042549	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	3912765	112042549	22963967	614	115633											
NCAM1	4684	broad.mit.edu	37	chr11	113078710	113078710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaggatgcgaccatccAcctcaaagtctttggtaggg	12	11	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:113078710A>G	uc009yyq.1	+	7	1242	c.548A>G	c.(547-549)CAC>CGC	p.H183R	NCAM1_uc001pno.2_Missense_Mutation_p.H183R	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	301	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCGACCATCCACCTCAAAGTC	0.418													G	113078710	A	G	113078710	3	3	228	1	0	0	0	0	1	0	0	0	10202	159	6	3	929	3	NCAM1	11	113078710	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1036161	113078710	21927806	615	115634											
ANKK1	255239	broad.mit.edu	37	chr11	113270239	113270239	+	Frame_Shift_Del	DEL	G	G	-													gtcaagctgctgaccagccaGggggctgagttggatgctca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:113270239delG	uc001pny.2	+	8	1642	c.1548delG	c.(1546-1548)CAGfs	p.Q516fs		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	516	ANK 5.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGACCAGCCAGGGGGCTGAGT	0.602													-	113270239	G	-	113270239	7	5	228	1	0	1	0	1	0	0	0	0	631	991	35	0	1578	0	ANKK1	11	113270239	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	191529	113270239	21736277	616	115635											
CADM1	23705	broad.mit.edu	37	chr11	115102146	115102146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatagcagtgcagttgacTtcaatctcctcaccttccac	6	15	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:115102146T>G	uc001ppi.3	-	4	618	c.489A>C	c.(487-489)GAA>GAC	p.E163D	CADM1_uc001ppf.3_Missense_Mutation_p.E163D|CADM1_uc001ppk.3_Missense_Mutation_p.E163D|CADM1_uc001ppj.3_Missense_Mutation_p.E163D|CADM1_uc001ppl.2_Missense_Mutation_p.E163D	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	163	Ig-like C2-type 1.|Extracellular (Potential).				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			ovary(2)	2	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)		TGCAGTTGACTTCAATCTCCT	0.453													G	115102146	T	G	115102146	3	3	228	1	0	0	0	0	1	0	0	0	2566	1606	56	5	867	5	CADM1	11	115102146	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1831907	115102146	19904370	617	115636											
CEP164	22897	broad.mit.edu	37	chr11	117261922	117261922	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggagcagctggaaggggaGaggaaagaagtgagctagtc	19	4	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:117261922G>T	uc001prc.2	+	17	2421	c.2274G>T	c.(2272-2274)GAG>GAT	p.E758D	CEP164_uc001prb.2_Missense_Mutation_p.E761D|CEP164_uc010rxk.1_Missense_Mutation_p.E732D|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.E191D	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	758	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		TGGAAGGGGAGAGGAAAGAAG	0.577													T	117261922	G	T	117261922	3	4	228	1	0	0	0	0	1	0	0	0	3249	933	33	5	2332	5	CEP164	11	117261922	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2159776	117261922	17744594	618	115637											
SCN2B	6327	broad.mit.edu	37	chr11	118039430	118039430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgaggacgttgagggtgGcaggtactgtgacctccatg	15	8	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:118039430G>A	uc001psf.2	-	2	298	c.107C>T	c.(106-108)GCC>GTC	p.A36V		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	36	Ig-like C2-type.|Extracellular (Potential).				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	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;3.19e-05)|Epithelial(105;0.00117)		GTTGAGGGTGGCAGGTACTGT	0.592													A	118039430	G	A	118039430	3	1	228	1	0	0	0	0	1	0	0	0	13917	1203	42	2	552	2	SCN2B	11	118039430	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	777508	118039430	16967086	619	115638											
HSPA8	3312	broad.mit.edu	37	chr11	122930436	122930436	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtatagaagtcgattccttCatagagagaatcgatctcaa	9	7	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:122930436C>T	uc001pyo.2	-	5	943	c.865G>A	c.(865-867)GAA>AAA	p.E289K	HSPA8_uc009zbc.2_Missense_Mutation_p.E53K|HSPA8_uc001pyp.2_Missense_Mutation_p.E289K|HSPA8_uc010rzu.1_Missense_Mutation_p.E212K|HSPA8_uc009zbd.1_Missense_Mutation_p.E289K	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	289	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			central_nervous_system(7)|lung(1)	8		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)		TCGATTCCTTCATAGAGAGAA	0.517													T	122930436	C	T	122930436	3	4	228	1	0	0	0	0	1	0	0	0	7416	835	29	4	1095	4	HSPA8	11	122930436	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4891006	122930436	12076080	620	115639											
SIAE	54414	broad.mit.edu	37	chr11	124524549	124524549	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgttcaagccgtcacatAcctgaggtgggcttagacca	11	12	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:124524549A>G	uc001qan.2	-	4	657	c.544_splice	c.e4+1	p.E182_splice		NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	sialate O-acetylesterase precursor							extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity				0	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)		GCCGTCACATACCTGAGGTGG	0.468													G	124524549	A	G	124524549	5	3	228	1	0	0	0	0	0	0	1	0	14298	405	14	3	1053	3	SIAE	11	124524549	Splice_Site	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1594113	124524549	10481967	621	115640											
ST14	6768	broad.mit.edu	37	chr11	130058083	130058084	+	Frame_Shift_Ins	INS	-	-	G													aggtggaaaagcatggcccgINSgggcgctgggtggtgctggc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:130058082_130058083C>CG	uc001qfw.3	+	1	348_349	c.155_156C>CG	c.(154-156)ccgfs	p.P52fs	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	52					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.P52P(2)		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)	AAGCATGGCCCGGGGCGCTGGG	0.599													G	130058084	-	G	130058083	7	5	228	1	0	1	1	0	0	0	0	0	15210	1103	39	0	162	0	ST14	11	130058083	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	5533534	130058083	4948433	622	115641											
NTM	50863	broad.mit.edu	37	chr11	132204964	132204964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgccgtcagcgaggtgaGcaacggcacgtcgaggaggg	19	10	1	1	rs147788695	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:132204964G>A	uc001qgp.2	+	7	1623	c.959G>A	c.(958-960)AGC>AAC	p.S320N	NTM_uc001qgm.2_Missense_Mutation_p.S320N|NTM_uc010sch.1_Missense_Mutation_p.S322N|NTM_uc010sci.1_Missense_Mutation_p.S331N|NTM_uc010scj.1_Missense_Mutation_p.S279N|NTM_uc001qgq.2_Missense_Mutation_p.S331N|NTM_uc001qgr.2_Missense_Mutation_p.S102N	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	320					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AGCGAGGTGAGCAACGGCACG	0.607													A	132204964	G	A	132204964	3	1	228	1	0	0	0	0	1	0	0	0	10699	971	34	2	1125	2	NTM	11	132204964	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2146881	132204964	2801552	623	115642											
GLB1L3	112937	broad.mit.edu	37	chr11	134182352	134182352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatctgctccggaggccGcctccgtgcccacgctcatg	11	18	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr11:134182352G>A	uc009zdf.2	+	14	1757	c.1397G>A	c.(1396-1398)CGC>CAC	p.R466H	GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	466					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGGAGGCCGCCTCCGTGCC	0.607													A	134182352	G	A	134182352	3	1	228	1	0	0	0	0	1	0	0	0	6430	1087	38	1	1451	1	GLB1L3	11	134182352	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1977388	134182352	824164	624	115643											
EFCAB4B	84766	broad.mit.edu	37	chr12	3763474	3763474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtccgctccagctccCgggccagctcctggttagtg	13	14	0	0	rs145685842		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:3763474C>A	uc001qmj.2	-	10	1522	c.950G>T	c.(949-951)CGG>CTG	p.R317L	EFCAB4B_uc010sen.1_Missense_Mutation_p.R317L|EFCAB4B_uc010seo.1_Missense_Mutation_p.R317L|EFCAB4B_uc001qmi.1_RNA	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	317	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTCCAGCTCCCGGGCCAGCTC	0.562													A	3763474	C	A	3763474	3	1	228	1	0	0	0	0	1	0	0	0	4937	652	23	5	1481	5	EFCAB4B	12	3763474	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		3763474	130088421	625	115644											
DYRK4	8798	broad.mit.edu	37	chr12	4708291	4708291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgaagtgcttgcagAtgctttcggtagagaaaatc	11	6	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:4708291A>G	uc001qmx.2	+	7	818	c.658A>G	c.(658-660)ATG>GTG	p.M220V	DYRK4_uc009zeh.1_Missense_Mutation_p.M335V|DYRK4_uc001qmy.1_Missense_Mutation_p.M220V	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	220	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			GTGCTTGCAGATGCTTTCGGT	0.448													G	4708291	A	G	4708291	3	3	228	1	0	0	0	0	1	0	0	0	4858	333	12	3	676	3	DYRK4	12	4708291	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	944817	4708291	129143604	626	115645											
KCNA6	3742	broad.mit.edu	37	chr12	4920472	4920472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtggttacaatgaccaCggtaggttacggggacatgt	15	7	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:4920472C>T	uc001qng.2	+	1	2131	c.1265C>T	c.(1264-1266)ACG>ATG	p.T422M		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	422	Selectivity filter (By similarity).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						ACAATGACCACGGTAGGTTAC	0.592										HNSCC(72;0.22)			T	4920472	C	T	4920472	3	4	228	1	0	0	0	0	1	0	0	0	8007	536	19	1	1267	1	KCNA6	12	4920472	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	212181	4920472	128931423	627	115646											
CHD4	1108	broad.mit.edu	37	chr12	6705221	6705221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtaatcctggatctccaCatcctcactctcccaagaag	6	15	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:6705221C>T	uc001qpo.2	-	13	2139	c.1975G>A	c.(1975-1977)GTG>ATG	p.V659M	CHD4_uc001qpn.2_Missense_Mutation_p.V652M|CHD4_uc001qpp.2_Missense_Mutation_p.V656M	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	659	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|zinc ion binding			central_nervous_system(2)	2						TGGATCTCCACATCCTCACTC	0.448													T	6705221	C	T	6705221	3	4	228	1	0	0	0	0	1	0	0	0	3327	478	17	4	3875	4	CHD4	12	6705221	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1784749	6705221	127146674	628	115647											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	228	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	218822	6924043	126927852	629	115648											
CLSTN3	9746	broad.mit.edu	37	chr12	7303192	7303192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcaggctcgttatcgGctgcgacacggagctgccct	14	13	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:7303192G>A	uc001qsr.2	+	15	2576	c.2298G>A	c.(2296-2298)CGG>CGA	p.R766R	CLSTN3_uc001qss.2_Silent_p.R778R	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	766	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CTCGTTATCGGCTGCGACACG	0.577													A	7303192	G	A	7303192	2	1	228	1	0	0	0	0	0	0	0	1	3563	1190	42	2		2	CLSTN3	12	7303192	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	379149	7303192	126548703	630	115649											
RIMKLB	57494	broad.mit.edu	37	chr12	8906585	8906585	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttccagaagtatgttaaagAgtctcatggacgggatgtac	12	6	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:8906585A>T	uc001quu.2	+	5	844	c.593A>T	c.(592-594)GAG>GTG	p.E198V	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E198V|RIMKLB_uc010sgl.1_Missense_Mutation_p.E198V|RIMKLB_uc001quw.2_Missense_Mutation_p.E198V	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	198	ATP-grasp.|ATP (By similarity).				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TATGTTAAAGAGTCTCATGGA	0.478													T	8906585	A	T	8906585	3	4	228	1	0	0	0	0	1	0	0	0	13366	304	11	5	607	5	RIMKLB	12	8906585	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1603393	8906585	124945310	631	115650											
PZP	5858	broad.mit.edu	37	chr12	9318785	9318785	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatatggtctctctacTactcctagacctgctaaagt	7	11	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:9318785T>G	uc001qvl.2	-	18	2150	c.2121A>C	c.(2119-2121)GTA>GTC	p.V707V	PZP_uc009zgl.2_Silent_p.V576V|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.V39V	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GTCTCTCTACTACTCCTAGAC	0.373													G	9318785	T	G	9318785	2	3	228	1	0	0	0	0	0	0	0	1	12869	1509	53	5		5	PZP	12	9318785	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	412200	9318785	124533110	632	115651											
OLR1	4973	broad.mit.edu	37	chr12	10321711	10321711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatggtcactactaatcccAggcaaaggacccctagagtc	8	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:10321711A>G	uc001qxo.1	-	2	254	c.140T>C	c.(139-141)CTG>CCG	p.L47P	OLR1_uc010sgz.1_5'Flank|OLR1_uc010sha.1_Missense_Mutation_p.L47P	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	47	Helical; Signal-anchor for type II membrane protein; (Potential).				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						TACTAATCCCAGGCAAAGGAC	0.453													G	10321711	A	G	10321711	3	3	228	1	0	0	0	0	1	0	0	0	10863	188	7	3	701	3	OLR1	12	10321711	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1002926	10321711	123530184	633	115652											
GRIN2B	2904	broad.mit.edu	37	chr12	13716251	13716251	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttccttctgcaggtccacGaaggtgtcgtaggagtgctg	13	10	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:13716251G>A	uc001rbt.2	-	13	4100	c.3921C>T	c.(3919-3921)TTC>TTT	p.F1307F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1307	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCAGGTCCACGAAGGTGTCGT	0.592													A	13716251	G	A	13716251	2	1	228	1	0	0	0	0	0	0	0	1	6780	1049	37	1		1	GRIN2B	12	13716251	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3394540	13716251	120135644	634	115653											
PDE3A	5139	broad.mit.edu	37	chr12	20792849	20792849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaattagggaatttatgAattattttcatgctttggag	8	4	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:20792849A>G	uc001reh.1	+	10	2231	c.2209A>G	c.(2209-2211)AAT>GAT	p.N737D		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	737	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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGAATTTATGAATTATTTTCA	0.279													G	20792849	A	G	20792849	3	3	228	1	0	0	0	0	1	0	0	0	11637	246	9	3	2247	3	PDE3A	12	20792849	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	7076598	20792849	113059046	635	115654											
TM7SF3	51768	broad.mit.edu	37	chr12	27127036	27127037	+	Frame_Shift_Ins	INS	-	-	CT													gaatgtttgtcactcggcgcINStctctctcttgcttccataa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:27127035_27127036G>GCT	uc010sjl.2	-	11	1813_1814	c.1575_1576C>AGC	c.(1573-1578)gagcgcfs	p.E525fs		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	525						integral to membrane|plasma membrane		p.R526C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GTCACTCGGCGCTCTCTCTCTT	0.5													CT	27127037	-	CT	27127036	7	5	228	1	0	1	1	0	0	0	0	0	15972	796	28	0	141	0	TM7SF3	12	27127036	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	6334187	27127036	106724859	636	115655											
PPFIBP1	8496	broad.mit.edu	37	chr12	27829455	27829455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacaaccccttcggcactcGaaaagtcagatcttcctttg	7	13	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:27829455G>A	uc001ric.1	+	18	1933	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	PPFIBP1_uc010sjr.1_Missense_Mutation_p.R350Q|PPFIBP1_uc001rib.1_Missense_Mutation_p.R502Q|PPFIBP1_uc001ria.2_Missense_Mutation_p.R488Q|PPFIBP1_uc001rid.1_Missense_Mutation_p.R366Q|PPFIBP1_uc001rif.1_5'Flank	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	519					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTCGGCACTCGAAAAGTCAGA	0.512													A	27829455	G	A	27829455	3	1	228	1	0	0	0	0	1	0	0	0	12313	1058	37	1	1609	1	PPFIBP1	12	27829455	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	702419	27829455	106022440	637	115656											
PPFIBP1	8496	broad.mit.edu	37	chr12	27829478	27829478	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagatcttcctttggcCggggcttttttaaaatcaaa	8	8	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:27829478C>G	uc001ric.1	+	18	1956	c.1579C>G	c.(1579-1581)CGG>GGG	p.R527G	PPFIBP1_uc010sjr.1_Missense_Mutation_p.R358G|PPFIBP1_uc001rib.1_Missense_Mutation_p.R510G|PPFIBP1_uc001ria.2_Missense_Mutation_p.R496G|PPFIBP1_uc001rid.1_Missense_Mutation_p.R374G|PPFIBP1_uc001rif.1_5'Flank	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	527					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TTCCTTTGGCCGGGGCTTTTT	0.502													G	27829478	C	G	27829478	3	3	228	1	0	0	0	0	1	0	0	0	12313	643	23	5	1632	5	PPFIBP1	12	27829478	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	23	27829478	106022417	638	115657											
PTHLH	5744	broad.mit.edu	37	chr12	28116399	28116399	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgttttttcttttcctGctccttgcgtttcccgggct	8	14	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:28116399G>A	uc001rik.2	-	3	709	c.406C>T	c.(406-408)CAG>TAG	p.Q136*	PTHLH_uc001ril.2_Nonsense_Mutation_p.Q136*|PTHLH_uc001rim.2_Nonsense_Mutation_p.Q136*|PTHLH_uc001rin.2_Nonsense_Mutation_p.Q136*	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	136					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)	1	Lung SC(9;0.184)					TTCTTTTCCTGCTCCTTGCGT	0.527													A	28116399	G	A	28116399	4	1	228	1	0	0	0	0	0	1	0	0	12761	1328	46	2	139	2	PTHLH	12	28116399	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	286921	28116399	105735496	639	115658											
TSPAN11	441631	broad.mit.edu	37	chr12	31135580	31135580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaagacagtggtggtGcgctgcggccagcgggccca	17	12	0	1	rs143482979		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:31135580G>A	uc010sju.1	+	6	950	c.570G>A	c.(568-570)GTG>GTA	p.V190V	TSPAN11_uc001rjp.2_Silent_p.V190V|TSPAN11_uc010sjv.1_Silent_p.V180V	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	190						integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGTGGTGGTGCGCTGCGGCC	0.657													A	31135580	G	A	31135580	2	1	228	1	0	0	0	0	0	0	0	1	16632	1306	46	2		2	TSPAN11	12	31135580	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3019181	31135580	102716315	640	115659											
ARID2	196528	broad.mit.edu	37	chr12	46244967	46244967	+	Frame_Shift_Del	DEL	C	C	-													agcagcaacattcaccagcaCccccaccacagcaggtacaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:46244966_46244966AC>A	uc001ros.1	+	14	3060	c.3060_3060AC>A	c.(3058-3060)gcafs	p.A1020fs	ARID2_uc001ror.3_Frame_Shift_Del_p.A1020fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.A476fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.A647fs|ARID2_uc001rou.1_Frame_Shift_Del_p.A354fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1020	Gln-rich.				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)		ATTCACCAGCACCCCCACCAC	0.517			"N, S, F"		hepatocellular carcinoma								-	46244967	C	-	46244967	7	5	228	1	0	1	0	1	0	0	0	0	915	507	18	0	3119	0	ARID2	12	46244967	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	15109387	46244967	87606928	641	115660											
ARID2	196528	broad.mit.edu	37	chr12	46285562	46285562	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactacttttattttttataGgtggtttcagacaccctcac	5	9	2	1	rs79280775		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:46285562G>C	uc001ros.1	+	17	4923	c.4923_splice	c.e17-1	p.K1641_splice	ARID2_uc001ror.2_Splice_Site_p.K1641_splice|ARID2_uc009zkg.1_Splice_Site_p.K1097_splice|ARID2_uc009zkh.1_Splice_Site_p.K1268_splice|ARID2_uc001rou.1_Splice_Site_p.K975_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		ATTTTTTATAGGTGGTTTCAG	0.368													C	46285562	G	C	46285562	5	2	228	1	0	0	0	0	0	0	1	0	915	1014	35	5	4988	5	ARID2	12	46285562	Splice_Site	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	40595	46285562	87566333	642	115661											
ADCY6	112	broad.mit.edu	37	chr12	49170977	49170977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgacacacagtagtaaCagtcccccaagatcttgatc	7	14	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:49170977C>T	uc001rsh.3	-	5	1946	c.1286G>A	c.(1285-1287)TGT>TAT	p.C429Y	ADCY6_uc001rsj.3_Missense_Mutation_p.C429Y|ADCY6_uc001rsi.3_Missense_Mutation_p.C429Y|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	429	Cytoplasmic (Potential).				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	ATP binding|metal ion binding				0						ACAGTAGTAACAGTCCCCCAA	0.567													T	49170977	C	T	49170977	3	4	228	1	0	0	0	0	1	0	0	0	298	478	17	4	2288	4	ADCY6	12	49170977	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2885415	49170977	84680918	643	115662											
WNT1	7471	broad.mit.edu	37	chr12	49374303	49374303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttccatcgaatcctgcaCgtgtgactaccggcggcgcg	13	13	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:49374303C>T	uc001rsu.2	+	3	653	c.455C>T	c.(454-456)ACG>ATG	p.T152M		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	152					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			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		GAATCCTGCACGTGTGACTAc	0.532													T	49374303	C	T	49374303	3	4	228	1	0	0	0	0	1	0	0	0	17378	536	19	1	465	1	WNT1	12	49374303	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	203326	49374303	84477592	644	115663											
MLL2	8085	broad.mit.edu	37	chr12	49434384	49434384	+	Frame_Shift_Del	DEL	G	G	-													cacagcagctctcagggggcGgaggttggggccgaggagtc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:49434384delG	uc001rta.3	-	31	7169	c.7169delC	c.(7168-7170)CCGfs	p.P2390fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2390	Pro-rich.|Poly-Pro.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTCAGGGGGCGGAGGTTGGGG	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49434384	G	-	49434384	7	5	228	1	0	1	0	1	0	0	0	0	9621	1116	39	0	9540	0	MLL2	12	49434384	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	60081	49434384	84417511	645	115664											
KRT6C	286887	broad.mit.edu	37	chr12	52867151	52867151	+	Frame_Shift_Del	DEL	C	C	-													ggcacacagggaagccagggCccccaaagccaccagcaagg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:52867151delC	uc001sal.3	-	1	419	c.371delG	c.(370-372)GGCfs	p.G124fs		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	124	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAAGCCAGGGCCCCCAAAGCC	0.627													-	52867151	C	-	52867151	7	5	228	1	0	1	0	1	0	0	0	0	8482	739	26	0	1359	0	KRT6C	12	52867151	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	3432767	52867151	80984744	646	115665											
KRT72	140807	broad.mit.edu	37	chr12	52981443	52981443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctctccagcagcttgcGgtaggtggcgatctccatat	11	13	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:52981443G>A	uc001sar.2	-	7	1368	c.1282C>T	c.(1282-1284)CGC>TGC	p.R428C	KRT72_uc001saq.2_Missense_Mutation_p.R428C|KRT72_uc010sns.1_Missense_Mutation_p.R386C|KRT72_uc010snt.1_Missense_Mutation_p.R240C	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	428	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCAGCTTGCGGTAGGTGGCG	0.612													A	52981443	G	A	52981443	3	1	228	1	0	0	0	0	1	0	0	0	8485	1116	39	1	265	1	KRT72	12	52981443	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	114292	52981443	80870452	647	115666											
TENC1	23371	broad.mit.edu	37	chr12	53452869	53452869	+	Frame_Shift_Del	DEL	C	C	-													ggggtcccctggatggcagtCcttatgcccaggtgcagcgg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:53452869delC	uc001sbp.2	+	18	1579	c.1444delC	c.(1444-1446)CCTfs	p.P482fs	TENC1_uc001sbl.2_Frame_Shift_Del_p.P358fs|TENC1_uc001sbn.2_Frame_Shift_Del_p.P492fs|TENC1_uc001sbq.2_5'UTR|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_5'UTR|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	482					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						GGATGGCAGTCCTTATGCCCA	0.667													-	53452869	C	-	53452869	7	5	228	1	0	1	0	1	0	0	0	0	15755	855	30	0	1623	0	TENC1	12	53452869	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	471426	53452869	80399026	648	115667											
HOXC6	3223	broad.mit.edu	37	chr12	54423566	54423566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcatcgagatcgccaaCgcgctttgcctgaccgagcg	13	15	0	2	rs61736613	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:54423566C>T	uc001sev.2	+	2	640	c.528C>T	c.(526-528)AAC>AAT	p.N176N	HOXC6_uc001ses.2_Silent_p.N94N|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	176	Homeobox.				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGATCGCCAACGCGCTTTGCC	0.567													T	54423566	C	T	54423566	2	4	228	1	0	0	0	0	0	0	0	1	7315	535	19	1		1	HOXC6	12	54423566	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	970697	54423566	79428329	649	115668											
GDF11	10220	broad.mit.edu	37	chr12	56142639	56142639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggccattggcagagcatcGacttcaagcaagtgctacac	10	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56142639G>A	uc001shq.2	+	2	752	c.715G>A	c.(715-717)GAC>AAC	p.D239N	GDF11_uc010spv.1_Missense_Mutation_p.D239N	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	239					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						GCAGAGCATCGACTTCAAGCA	0.612													A	56142639	G	A	56142639	3	1	228	1	0	0	0	0	1	0	0	0	6312	1058	37	1	721	1	GDF11	12	56142639	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1719073	56142639	77709256	650	115669											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		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	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													A	56478854	G	A	56478854	3	1	228	1	0	0	0	0	1	0	0	0	5208	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	336215	56478854	77373041	651	115670											
SMARCC2	6601	broad.mit.edu	37	chr12	56563591	56563593	+	In_Frame_Del	DEL	CTT	CTT	-													ccatcactcttctcggactcCttctcactgtcgccttcttt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56563590_56563592CCTT>C	uc001skb.3	-	22	2529_2531	c.2423_2425AAGG>G	c.(2422-2427)aaggag>aGag	p.808_809KE>R	SMARCC2_uc001skd.3_In_Frame_Del_p.839_840KE>R|SMARCC2_uc001ska.3_In_Frame_Del_p.839_840KE>R|SMARCC2_uc001skc.3_In_Frame_Del_p.838_839KE>R|SMARCC2_uc010sqf.2_In_Frame_Del_p.728_729KE>R	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	808	Glu-rich.				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	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	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)			TTCTCGGACTCCTTCTCACTGTC	0.557													-	56563593	CTT	-	56563591	7	5	228	1	0	1	0	1	0	0	0	0	14776	680	24	0	1244	0	SMARCC2	12	56563591	In_Frame_Del	DEL	CTT	TCGA-D7-A4YV-01A-11D-A25D-08	84737	56563591	77288304	652	115671											
BAZ2A	11176	broad.mit.edu	37	chr12	56993984	56993984	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagggtgggagtcactcaCatctctgtagtggtgccctc	14	10	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:56993984C>T	uc001slq.1	-	24	5092	c.4898_splice	c.e24+1	p.I1633_splice	BAZ2A_uc001slp.1_Splice_Site_p.I1631_splice|BAZ2A_uc001slo.1_Splice_Site_p.I439_splice|BAZ2A_uc009zov.1_Splice_Site_p.I599_splice|BAZ2A_uc009zow.1_Splice_Site_p.I1601_splice	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						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				0						GAGTCACTCACATCTCTGTAG	0.552													T	56993984	C	T	56993984	5	4	228	1	0	0	0	0	0	0	1	0	1331	492	17	4	842	4	BAZ2A	12	56993984	Splice_Site	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	430393	56993984	76857911	653	115672											
PRIM1	5557	broad.mit.edu	37	chr12	57127957	57127957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttaagaagttctccttttCgggatttatccagattttca	6	8	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57127957C>T	uc001smd.2	-	12	1281	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q		NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	406					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				0						TTCTCCTTTTCGGGATTTATC	0.308													T	57127957	C	T	57127957	3	4	228	1	0	0	0	0	1	0	0	0	12490	884	31	1	53	1	PRIM1	12	57127957	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	133973	57127957	76723938	654	115673											
DDIT3	1649	broad.mit.edu	37	chr12	57910907	57910907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgctggttctggctcctcCtcagtcagccaagccagaga	10	14	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57910907C>A	uc001soi.2	-	4	375	c.195G>T	c.(193-195)GAG>GAT	p.E65D	MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.E88D|DDIT3_uc009zpt.2_Missense_Mutation_p.E88D	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	65					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		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						CTGGCTCCTCCTCAGTCAGCC	0.512			T	FUS	liposarcoma								A	57910907	C	A	57910907	3	1	228	1	0	0	0	0	1	0	0	0	4330	680	24	5	318	5	DDIT3	12	57910907	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	782950	57910907	75940988	655	115674											
MBD6	114785	broad.mit.edu	37	chr12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G													ggggctgcagctcctccctgINSgggggggagctcctccaccc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629													G	57921733	-	G	57921732	7	5	228	1	0	1	1	0	0	0	0	0	9348	1348	47	0	2364	0	MBD6	12	57921732	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	10825	57921732	75930163	656	115675											
KIF5A	3798	broad.mit.edu	37	chr12	57966494	57966494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgtcattgtgggcaaCggggagattaagctggtgag	16	5	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:57966494C>T	uc001sor.1	+	15	1909	c.1701C>T	c.(1699-1701)AAC>AAT	p.N567N	KIF5A_uc010srr.1_Silent_p.N478N	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	567					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TTGTGGGCAACGGGGAGATTA	0.547													T	57966494	C	T	57966494	2	4	228	1	0	0	0	0	0	0	0	1	8305	535	19	1		1	KIF5A	12	57966494	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	44762	57966494	75885401	657	115676											
GEFT	115557	broad.mit.edu	37	chr12	58006728	58006728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagaatcctattccattgCgggcagtgaggggagtatat	12	6	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:58006728C>T	uc001spb.2	+	2	573	c.113C>T	c.(112-114)GCG>GTG	p.A38V	GEFT_uc009zpy.2_Missense_Mutation_p.A77V|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	38					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					TATTCCATTGCGGGCAGTGAG	0.493													T	58006728	C	T	58006728	3	4	228	1	0	0	0	0	1	0	0	0	6328	768	27	1	341	1	GEFT	12	58006728	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	40234	58006728	75845167	658	115677											
TPH2	121278	broad.mit.edu	37	chr12	72335393	72335393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaactctggcaaaaatgaCgacaaaggcaacaagggaag	10	9	1	1	rs74510566		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:72335393C>T	uc009zrw.1	+	2	276	c.135C>T	c.(133-135)GAC>GAT	p.D45D	TPH2_uc001swy.2_Translation_Start_Site	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	45					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.D45D(1)		ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GCAAAAATGACGACAAAGGCA	0.393													T	72335393	C	T	72335393	2	4	228	1	0	0	0	0	0	0	0	1	16399	535	19	1		1	TPH2	12	72335393	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	14328665	72335393	61516502	659	115678											
CEP290	80184	broad.mit.edu	37	chr12	88453675	88453675	+	Frame_Shift_Del	DEL	T	T	-													atcagtcataaaagtcatacTtttttaagttctttacgaag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:88453675delT	uc001tar.2	-	48	6989	c.6645delA	c.(6643-6645)AAAfs	p.K2215fs	CEP290_uc001taq.2_Frame_Shift_Del_p.K1275fs	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2215	Potential.				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			ovary(5)|breast(1)|pancreas(1)	7						AAAGTCATACTTTTTTAAGTT	0.333													-	88453675	T	-	88453675	7	5	228	1	0	1	0	1	0	0	0	0	3253	1623	56	0	822	0	CEP290	12	88453675	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	16118282	88453675	45398220	660	115679											
C12orf12	196477	broad.mit.edu	37	chr12	91348255	91348255	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggcgccagggccctcCccagcacccccagttagagc	14	17	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:91348255C>A	uc001tbj.2	-	1	699	c.265G>T	c.(265-267)GGA>TGA	p.G89*		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	89										central_nervous_system(1)|pancreas(1)	2						CAGGGCCCTCCCCAGCACCCC	0.637													A	91348255	C	A	91348255	4	1	228	1	0	0	0	0	0	1	0	0	1676	632	22	5	959	5	C12orf12	12	91348255	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2894580	91348255	42503640	661	115680											
STAB2	55576	broad.mit.edu	37	chr12	104031830	104031830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaaatctgccaccctcAtgctcattgtacgtacctgg	7	13	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:104031830A>G	uc001tjw.2	+	8	932	c.746A>G	c.(745-747)CAT>CGT	p.H249R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	249	Extracellular (Potential).|EGF-like 4.				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			ovary(9)|skin(5)	14						TGCCACCCTCATGCTCATTGT	0.507													G	104031830	A	G	104031830	3	3	228	1	0	0	0	0	1	0	0	0	15237	217	8	3	776	3	STAB2	12	104031830	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	12683575	104031830	29820065	662	115681											
BTBD11	121551	broad.mit.edu	37	chr12	108010875	108010875	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttcctctgcagctcctcctgGatgctggggccaaggtggaa	13	12	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:108010875G>C	uc001tmk.1	+	8	2532	c.2011G>C	c.(2011-2013)GAT>CAT	p.D671H	BTBD11_uc009zut.1_Missense_Mutation_p.D671H|BTBD11_uc001tmj.2_Missense_Mutation_p.D671H|BTBD11_uc001tml.1_Missense_Mutation_p.D208H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	671	ANK 2.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						GCTCCTCCTGGATGCTGGGGC	0.587													C	108010875	G	C	108010875	3	2	228	1	0	0	0	0	1	0	0	0	1539	1174	41	5	2146	5	BTBD11	12	108010875	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3979045	108010875	25841020	663	115682											
WSCD2	9671	broad.mit.edu	37	chr12	108600079	108600079	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagccaagtacatcggCtgctacctggatgacaccca	8	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:108600079C>A	uc001tms.2	+	3	1140	c.396C>A	c.(394-396)GGC>GGA	p.G132G	WSCD2_uc001tmt.2_Silent_p.G132G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	132	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AGTACATCGGCTGCTACCTGG	0.512													A	108600079	C	A	108600079	2	1	228	1	0	0	0	0	0	0	0	1	17404	784	28	5		5	WSCD2	12	108600079	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	589204	108600079	25251816	664	115683											
SSH1	54434	broad.mit.edu	37	chr12	109181783	109181783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagcttttgctcatccacGaagggctctttaagttttct	8	10	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:109181783G>A	uc001tnm.2	-	15	3218	c.3131C>T	c.(3130-3132)TCG>TTG	p.S1044L	SSH1_uc001tnl.2_Missense_Mutation_p.S732L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	1044	Interaction with YWHAG.				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			ovary(4)	4						GCTCATCCACGAAGGGCTCTT	0.547													A	109181783	G	A	109181783	3	1	228	1	0	0	0	0	1	0	0	0	15183	1059	37	1	22	1	SSH1	12	109181783	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	581704	109181783	24670112	665	115684											
ACACB	32	broad.mit.edu	37	chr12	109604775	109604775	+	Frame_Shift_Del	DEL	G	G	-													ctgagtttgtcacacgctttGggggggatcgggtcatcgag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:109604774_109604774TG>T	uc001tob.3	+	2	881	c.762_762TG>T	c.(760-762)tttfs	p.F254fs	ACACB_uc001toc.3_Frame_Shift_Del_p.F254fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	254					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	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|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)	TCACACGCTTTGGGGGGGATC	0.617													-	109604775	G	-	109604775	7	5	228	1	0	1	0	1	0	0	0	0	107	1348	47	0	769	0	ACACB	12	109604775	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	422992	109604775	24247120	666	115685											
MMAB	326625	broad.mit.edu	37	chr12	109998867	109998867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcggcccggcggcacaCggcccggcagaaatgcagcg	14	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:109998867C>T	uc001tou.2	-	7	635	c.562G>A	c.(562-564)GTG>ATG	p.V188M	MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.V97M|MMAB_uc001tox.2_Missense_Mutation_p.V136M	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor	188					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGCGGCACACGGCCCGGCAG	0.438													T	109998867	C	T	109998867	3	4	228	1	0	0	0	0	1	0	0	0	9640	536	19	1	202	1	MMAB	12	109998867	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	394092	109998867	23853028	667	115686											
C12orf51	283450	broad.mit.edu	37	chr12	112647918	112647918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcattgtcactgtcagatgCcatggcgaaaggcagggcct	12	10	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:112647918C>T	uc009zwc.2	-	43	6520	c.6502G>A	c.(6502-6504)GCA>ACA	p.A2168T	C12orf51_uc001ttr.1_Missense_Mutation_p.A343T	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTGTCAGATGCCATGGCGAAA	0.597													T	112647918	C	T	112647918	3	4	228	1	0	0	0	0	1	0	0	0	1696	739	26	2	5596	2	C12orf51	12	112647918	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2649051	112647918	21203977	668	115687											
C12orf51	283450	broad.mit.edu	37	chr12	112669482	112669482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggctttccgcagggcgGctgcagcctcttctgtaatc	13	12	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:112669482G>A	uc009zwc.2	-	32	4787	c.4769C>T	c.(4768-4770)GCC>GTC	p.A1590V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CCGCAGGGCGGCTGCAGCCTC	0.527													A	112669482	G	A	112669482	3	1	228	1	0	0	0	0	1	0	0	0	1696	1203	42	2	7373	2	C12orf51	12	112669482	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	21564	112669482	21182413	669	115688											
OAS1	4938	broad.mit.edu	37	chr12	113354535	113354535	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctgagaaggcagctcacGaaacccaggtatgctatccc	9	13	1	1	rs144257676	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:113354535G>A	uc001tud.2	+	4	982	c.876G>A	c.(874-876)ACG>ACA	p.T292T	OAS1_uc010syn.1_Silent_p.T291T|OAS1_uc010syo.1_3'UTR|OAS1_uc001tub.2_Silent_p.T292T|OAS1_uc001tuc.2_Silent_p.T292T|OAS1_uc009zwf.2_Silent_p.T291T	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	292					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			ovary(2)	2						GGCAGCTCACGAAACCCAGGT	0.453													A	113354535	G	A	113354535	2	1	228	1	0	0	0	0	0	0	0	1	10799	1045	37	1		1	OAS1	12	113354535	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	685053	113354535	20497360	670	115689											
TBX5	6910	broad.mit.edu	37	chr12	114793421	114793421	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatagagtccttggcacgccAtgagagtagaggaactcagg	14	8	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:114793421A>G	uc001tvo.2	-	9	1968	c.1473T>C	c.(1471-1473)CAT>CAC	p.H491H	TBX5_uc001tvp.2_Silent_p.H491H|TBX5_uc001tvq.2_Silent_p.H441H	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	491					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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGGCACGCCATGAGAGTAGA	0.602													G	114793421	A	G	114793421	2	3	228	1	0	0	0	0	0	0	0	1	15658	214	8	3		3	TBX5	12	114793421	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1438886	114793421	19058474	671	115690											
SIRT4	23409	broad.mit.edu	37	chr12	120750797	120750797	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgtgtctgaaactgaaTtctcgttgtggagagttgct	13	6	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:120750797T>C	uc001tyc.2	+	4	923	c.903T>C	c.(901-903)AAT>AAC	p.N301N		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	301	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				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAAACTGAATTCTCGTTGTG	0.493													C	120750797	T	C	120750797	2	2	228	1	0	0	0	0	0	0	0	1	14340	1490	52	3		3	SIRT4	12	120750797	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	5957376	120750797	13101098	672	115691											
P2RX4	5025	broad.mit.edu	37	chr12	121660807	121660807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaagacgtgtgaggtggCggcctggtgcccggtggagg	20	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:121660807C>T	uc001tzr.2	+	5	789	c.485C>T	c.(484-486)GCG>GTG	p.A162V	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Missense_Mutation_p.A178V|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Missense_Mutation_p.A61V	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	162	Extracellular (Potential).				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				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTGAGGTGGCGGCCTGGTGC	0.522													T	121660807	C	T	121660807	3	4	228	1	0	0	0	0	1	0	0	0	11342	768	27	1	503	1	P2RX4	12	121660807	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	910010	121660807	12191088	673	115692											
B3GNT4	79369	broad.mit.edu	37	chr12	122691861	122691861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaccgcctcagccccctcGagatgtggaccatgtgggca	11	15	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:122691861G>A	uc001ubx.2	+	3	1281	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	B3GNT4_uc001uby.2_Missense_Mutation_p.E330K	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	355	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	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)		CAGCCCCCTCGAGATGTGGAC	0.627													A	122691861	G	A	122691861	3	1	228	1	0	0	0	0	1	0	0	0	1259	1059	37	1	1069	1	B3GNT4	12	122691861	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1031054	122691861	11160034	674	115693											
NCOR2	9612	broad.mit.edu	37	chr12	124826544	124826544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgtgtcggggtagccGcggatgaggtagggtgggta	21	8	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:124826544G>A	uc010tba.1	-	34	5154	c.5037C>T	c.(5035-5037)CGC>CGT	p.R1679R	NCOR2_uc010tay.1_Silent_p.R1678R|NCOR2_uc010taz.1_Silent_p.R1662R|NCOR2_uc010tbb.1_Silent_p.R1671R|NCOR2_uc010tbc.1_Silent_p.R1661R|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1679					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			skin(3)|ovary(1)	4	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)		CGGGGTAGCCGCGGATGAGGT	0.672													A	124826544	G	A	124826544	2	1	228	1	0	0	0	0	0	0	0	1	10236	1074	38	1		1	NCOR2	12	124826544	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2134683	124826544	9025351	675	115694											
AACS	65985	broad.mit.edu	37	chr12	125613904	125613904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggtctggggagagagcGgcgagctggtgtgtactaag	20	6	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:125613904G>A	uc001uhc.2	+	14	1653	c.1447G>A	c.(1447-1449)GGC>AGC	p.G483S	AACS_uc001uhd.2_Missense_Mutation_p.G483S|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Missense_Mutation_p.G81S	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	483					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGGAGAGAGCGGCGAGCTGGT	0.522													A	125613904	G	A	125613904	3	1	228	1	0	0	0	0	1	0	0	0	9	1116	39	1	1501	1	AACS	12	125613904	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	787360	125613904	8237991	676	115695											
FZD10	11211	broad.mit.edu	37	chr12	130648101	130648101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacgtggagaagagcgCgtcgtgcgcgccgctctgca	14	15	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:130648101C>T	uc001uii.2	+	1	1070	c.614C>T	c.(613-615)GCG>GTG	p.A205V	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	205	Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		GAGAAGAGCGCGTCGTGCGCG	0.622													T	130648101	C	T	130648101	3	4	228	1	0	0	0	0	1	0	0	0	6129	768	27	1	616	1	FZD10	12	130648101	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5034197	130648101	3203794	677	115696											
PIWIL1	9271	broad.mit.edu	37	chr12	130856060	130856060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgctccttgccagtacGcccacaagctggcttttctt	7	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:130856060G>T	uc001uik.2	+	21	2593	c.2503G>T	c.(2503-2505)GCC>TCC	p.A835S		NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	835	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	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)		TTGCCAGTACGCCCACAAGCT	0.453													T	130856060	G	T	130856060	3	4	228	1	0	0	0	0	1	0	0	0	11957	1087	38	5	2581	5	PIWIL1	12	130856060	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	207959	130856060	2995835	678	115697											
ULK1	8408	broad.mit.edu	37	chr12	132393282	132393282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaggcatcatccaccGcgacctgaaaccgcagaaca	8	15	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:132393282G>A	uc001uje.2	+	6	678	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	137	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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		ATCATCCACCGCGACCTGAAA	0.602													A	132393282	G	A	132393282	3	1	228	1	0	0	0	0	1	0	0	0	16972	1087	38	1	432	1	ULK1	12	132393282	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1537222	132393282	1458613	679	115698											
EP400	57634	broad.mit.edu	37	chr12	132549334	132549334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagacctcgcagccgcCgcagcagcagagcccccagc	12	18	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:132549334C>A	uc001ujn.2	+	47	8491	c.8456C>A	c.(8455-8457)CCG>CAG	p.P2819Q	EP400_uc001ujl.2_Missense_Mutation_p.P2818Q|EP400_uc001ujm.2_Missense_Mutation_p.P2738Q|EP400_uc001ujp.2_Missense_Mutation_p.P36Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2855					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		TCGCAGCCGCCGCAGCAGCAG	0.706													A	132549334	C	A	132549334	3	1	228	1	0	0	0	0	1	0	0	0	5149	652	23	5	8639	5	EP400	12	132549334	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	156052	132549334	1302561	680	115699											
EP400	57634	broad.mit.edu	37	chr12	132551511	132551511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcagccacagaaggcaGcaggtgcccgccccagcaca	12	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr12:132551511G>A	uc001ujn.2	+	48	8781	c.8746G>A	c.(8746-8748)GCA>ACA	p.A2916T	EP400_uc001ujl.2_Missense_Mutation_p.A2915T|EP400_uc001ujm.2_Missense_Mutation_p.A2835T|EP400_uc001ujp.2_Missense_Mutation_p.A126T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2952					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		ACAGAAGGCAGCAGGTGCCCG	0.667													A	132551511	G	A	132551511	3	1	228	1	0	0	0	0	1	0	0	0	5149	971	34	2	8933	2	EP400	12	132551511	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2177	132551511	1300384	681	115700											
ZMYM2	7750	broad.mit.edu	37	chr13	20608469	20608469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgcatagttacatattgcGaatactgtcaagaggagaag	10	5	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:20608469G>A	uc001umr.2	+	12	2342	c.2044G>A	c.(2044-2046)GAA>AAA	p.E682K	ZMYM2_uc001ums.2_Missense_Mutation_p.E682K|ZMYM2_uc001umt.2_Missense_Mutation_p.E682K|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.E62K|ZMYM2_uc001umw.2_Missense_Mutation_p.E135K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	682	MYM-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		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)		TACATATTGCGAATACTGTCA	0.388													A	20608469	G	A	20608469	3	1	228	1	0	0	0	0	1	0	0	0	17697	1059	37	1	2078	1	ZMYM2	13	20608469	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		20608469	94561409	682	115701											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233255	24233255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacgggacacggcgctggCtgccgttatctgcagcgctc	13	16	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:24233255C>T	uc001uov.1	+	6	576	c.512C>T	c.(511-513)GCT>GTT	p.A171V	TNFRSF19_uc001uot.2_Missense_Mutation_p.A171V|TNFRSF19_uc010tcu.1_Missense_Mutation_p.A39V|TNFRSF19_uc001uow.2_Missense_Mutation_p.A171V	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	171	Helical; (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		ACGGCGCTGGCTGCCGTTATC	0.582													T	24233255	C	T	24233255	3	4	228	1	0	0	0	0	1	0	0	0	16289	797	28	2	530	2	TNFRSF19	13	24233255	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3624786	24233255	90936623	683	115702											
MIPEP	4285	broad.mit.edu	37	chr13	24413805	24413805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgatgtggtttgtctgCtcgctgaaaaaaatcacagt	9	9	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:24413805C>T	uc001uox.3	-	12	1421	c.1321G>A	c.(1321-1323)GCA>ACA	p.A441T		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	441					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		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)		GGTTTGTCTGCTCGCTGAAAA	0.348													T	24413805	C	T	24413805	3	4	228	1	0	0	0	0	1	0	0	0	9592	797	28	2	852	2	MIPEP	13	24413805	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	180550	24413805	90756073	684	115703											
FLT3	2322	broad.mit.edu	37	chr13	28592636	28592636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatagttggaatcactcaTgatatctcgagccaatccaa	6	10	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:28592636T>G	uc001urw.2	-	20	2591	c.2509A>C	c.(2509-2511)ATG>CTG	p.M837L	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	837	Protein kinase.|Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.I836del(3)|p.D835_M837>VFP(2)|p.M837P(2)|p.D835_S838del(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	GAATCACTCATGATATCTCGA	0.443			Mis|O		AML|ALL								G	28592636	T	G	28592636	3	3	228	1	0	0	0	0	1	0	0	0	5942	1464	51	5	492	5	FLT3	13	28592636	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	4178831	28592636	86577242	685	115704											
SLC46A3	283537	broad.mit.edu	37	chr13	29287531	29287531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagcaaacagagccaaaCgctggttgcaagagcaccaa	10	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:29287531C>T	uc001usi.2	-	2	1316	c.346G>A	c.(346-348)GTT>ATT	p.V116I	SLC46A3_uc001usg.2_Missense_Mutation_p.V41I|SLC46A3_uc001usj.2_Missense_Mutation_p.V116I|SLC46A3_uc001ush.2_Missense_Mutation_p.V116I|SLC46A3_uc001usk.2_Missense_Mutation_p.V41I	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	116	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAGCCAAACGCTGGTTGCA	0.413													T	29287531	C	T	29287531	3	4	228	1	0	0	0	0	1	0	0	0	14646	536	19	1	1069	1	SLC46A3	13	29287531	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	694895	29287531	85882347	686	115705											
STARD13	90627	broad.mit.edu	37	chr13	33703176	33703176	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttccacatcactgggtgtCgtccgaccttctgagacaga	9	13	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:33703176C>T	uc001uuw.2	-	5	1764	c.1638G>A	c.(1636-1638)ACG>ACA	p.T546T	STARD13_uc001uuu.2_Silent_p.T538T|STARD13_uc001uuv.2_Silent_p.T428T|STARD13_uc001uux.2_Silent_p.T511T|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.T531T	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	546					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	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)		CACTGGGTGTCGTCCGACCTT	0.483													T	33703176	C	T	33703176	2	4	228	1	0	0	0	0	0	0	0	1	15255	871	31	1		1	STARD13	13	33703176	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4415645	33703176	81466702	687	115706											
FREM2	341640	broad.mit.edu	37	chr13	39338488	39338488	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtctgaattgggcatggAtctcctttgaaaaggaatat	10	6	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:39338488A>T	uc001uwv.2	+	3	5620	c.5311A>T	c.(5311-5313)ATC>TTC	p.I1771F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1771	Calx-beta 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		TTGGGCATGGATCTCCTTTGA	0.343													T	39338488	A	T	39338488	3	4	228	1	0	0	0	0	1	0	0	0	6045	333	12	5	5321	5	FREM2	13	39338488	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	5635312	39338488	75831390	688	115707											
STOML3	161003	broad.mit.edu	37	chr13	39541050	39541050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagaggaaacacaatcGtagaattcttctcggtggct	12	8	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:39541050G>A	uc001uwx.2	-	7	926	c.788C>T	c.(787-789)ACG>ATG	p.T263M	STOML3_uc010tez.1_Missense_Mutation_p.T254M	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	263	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		AAACACAATCGTAGAATTCTT	0.522													A	39541050	G	A	39541050	3	1	228	1	0	0	0	0	1	0	0	0	15314	1145	40	1	91	1	STOML3	13	39541050	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	202562	39541050	75628828	689	115708											
ZC3H13	23091	broad.mit.edu	37	chr13	46542109	46542109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagatcttgaatggacctgtCgatctgactctggagaactt	10	9	3	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:46542109C>T	uc010tfw.1	-	14	3857	c.3851G>A	c.(3850-3852)CGA>CAA	p.R1284Q	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Missense_Mutation_p.R1284Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1284	Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		ATGGACCTGTCGATCTGACTC	0.323													T	46542109	C	T	46542109	3	4	228	1	0	0	0	0	1	0	0	0	17562	884	31	1	855	1	ZC3H13	13	46542109	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7001059	46542109	68627769	690	115709											
KCNRG	283518	broad.mit.edu	37	chr13	50590127	50590127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaccttacttccactGcctccacaaagaccttctta	4	15	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:50590127G>A	uc001vdu.2	+	1	738	c.498G>A	c.(496-498)CTG>CTA	p.L166L	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.L166L|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	166						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		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;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TACTTCCACTGCCTCCACAAA	0.453													A	50590127	G	A	50590127	2	1	228	1	0	0	0	0	0	0	0	1	8087	1306	46	2		2	KCNRG	13	50590127	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4048018	50590127	64579751	691	115710											
DIAPH3	81624	broad.mit.edu	37	chr13	60582732	60582732	+	Frame_Shift_Del	DEL	A	A	-													acaatacaaaaaaatctgtcAatttttttttcttcaccagc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:60582731_60582731CA>C	uc001vht.3	-	8	1180	c.961_961TG>G	c.(961-963)gacfs	p.D321fs	DIAPH3_uc001vhu.3_Frame_Shift_Del_p.D58fs|DIAPH3_uc001vhw.1_Frame_Shift_Del_p.D310fs|DIAPH3_uc010aed.1_Frame_Shift_Del_p.D275fs|DIAPH3_uc010aee.1_Frame_Shift_Del_p.D251fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	321	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.D321D(1)		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)		AAAAATCTGTCAATTTTTTTT	0.313													-	60582732	A	-	60582732	7	5	228	1	0	1	0	1	0	0	0	0	4520	126	5	0	2721	0	DIAPH3	13	60582732	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	9992605	60582732	54587146	692	115711											
TDRD3	81550	broad.mit.edu	37	chr13	61109249	61109249	+	Frame_Shift_Del	DEL	G	G	-													tttgcctcctcagttttaccGggcagaagttgaagccctcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:61109248_61109248CG>C	uc001vhz.4	+	11	2508	c.1720_1720CG>C	c.(1720-1722)cggfs	p.R574fs	TDRD3_uc001via.3_Frame_Shift_Del_p.R574fs|TDRD3_uc010aeg.3_Frame_Shift_Del_p.R667fs|TDRD3_uc001vib.4_Frame_Shift_Del_p.R573fs	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	574	Tudor.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.R574Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TCAGTTTTACCGGGCAGAAGT	0.388													-	61109249	G	-	61109249	7	5	228	1	0	1	0	1	0	0	0	0	15729	1116	39	0	2046	0	TDRD3	13	61109249	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	526517	61109249	54060629	693	115712											
TBC1D4	9882	broad.mit.edu	37	chr13	76055593	76055593	+	Frame_Shift_Del	DEL	C	C	-													gcgtggccgacggactagtgCcccccgaggccccagcgccc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:76055592_76055592GC>G	uc001vjl.1	-	0	659	c.312_312GC>C	c.(310-312)ggcfs	p.G104fs	TBC1D4_uc010aer.2_Frame_Shift_Del_p.G104fs|TBC1D4_uc010aes.2_Frame_Shift_Del_p.G104fs	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	104	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)		ACGGACTAGTGCCCCCCGAGG	0.711													-	76055593	C	-	76055593	7	5	228	1	0	1	0	1	0	0	0	0	15619	739	26	0	3669	0	TBC1D4	13	76055593	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	14946344	76055593	39114285	694	115713											
SLITRK5	26050	broad.mit.edu	37	chr13	88329509	88329509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgtagtagtttccacGcccacaccctcctctatcca	5	16	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:88329509G>A	uc001vln.2	+	2	2085	c.1866G>A	c.(1864-1866)ACG>ACA	p.T622T	SLITRK5_uc010tic.1_Silent_p.T381T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	622	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TAGTTTCCACGCCCACACCCT	0.607													A	88329509	G	A	88329509	2	1	228	1	0	0	0	0	0	0	0	1	14746	1074	38	1		1	SLITRK5	13	88329509	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	12273916	88329509	26840369	695	115714											
MBNL2	10150	broad.mit.edu	37	chr13	98009823	98009823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggtctttaaccccagcGtcttgcactaccagcaggct	10	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:98009823G>A	uc010aft.2	+	6	1708	c.892G>A	c.(892-894)GTC>ATC	p.V298I	MBNL2_uc001vmz.2_Missense_Mutation_p.V298I|MBNL2_uc001vna.2_Missense_Mutation_p.V298I|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.V143I|MBNL2_uc001vnc.2_Missense_Mutation_p.V31I	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	298					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TAACCCCAGCGTCTTGCACTA	0.532													A	98009823	G	A	98009823	3	1	228	1	0	0	0	0	1	0	0	0	9354	1145	40	1	910	1	MBNL2	13	98009823	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	9680314	98009823	17160055	696	115715											
DOCK9	23348	broad.mit.edu	37	chr13	99533825	99533825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacataccttaacatatgacCtcaagtggctctccaatcct	4	13	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:99533825C>A	uc001vnt.2	-	25	2790	c.2735G>T	c.(2734-2736)AGG>ATG	p.R912M	DOCK9_uc001vnw.2_Missense_Mutation_p.R911M|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R912M|DOCK9_uc010tis.1_Missense_Mutation_p.R911M|DOCK9_uc010tit.1_Missense_Mutation_p.R912M|DOCK9_uc010afu.1_Missense_Mutation_p.R758M	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	912					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACATATGACCTCAAGTGGCT	0.403													A	99533825	C	A	99533825	3	1	228	1	0	0	0	0	1	0	0	0	4694	681	24	5	3663	5	DOCK9	13	99533825	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1524002	99533825	15636053	697	115716											
NALCN	259232	broad.mit.edu	37	chr13	101735484	101735484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccaggacgagtaatgCgattgtcctcttaaaaaatg	11	8	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:101735484C>T	uc001vox.1	-	32	3838	c.3649G>A	c.(3649-3651)GCA>ACA	p.A1217T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1217	Helical; Name=S1 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGAGTAATGCGATTGTCCTC	0.423													T	101735484	C	T	101735484	3	4	228	1	0	0	0	0	1	0	0	0	10148	768	27	1	1619	1	NALCN	13	101735484	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2201659	101735484	13434394	698	115717											
ING1	3621	broad.mit.edu	37	chr13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaaggccaaggcggagCgagaggcgtcccctgccgac	15	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:111372025C>T	uc001vri.2	+	2	1447	c.1015C>T	c.(1015-1017)CGA>TGA	p.R339*	ING1_uc001vrf.2_Nonsense_Mutation_p.R152*|ING1_uc001vrg.2_Nonsense_Mutation_p.R127*|ING1_uc001vrh.2_Nonsense_Mutation_p.R196*	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	339					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	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)			CAAGGCGGAGCGAGAGGCGTC	0.627													T	111372025	C	T	111372025	4	4	228	1	0	0	0	0	0	1	0	0	7735	760	27	1	1169	1	ING1	13	111372025	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9636541	111372025	3797853	699	115718											
TUBGCP3	10426	broad.mit.edu	37	chr13	113181367	113181367	+	Splice_Site	DEL	A	A	-													ttttcctatcaaaaggacctAaaaagaaaaacattctatga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:113181366_113181366TA>T	uc001vse.1	-	13	1634	c.1447_splice	c.e13-1	p.V483_splice	TUBGCP3_uc010tjq.1_Splice_Site_p.V473_splice|TUBGCP3_uc001vsf.3_Splice_Site_p.V483_splice	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	483					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)					CAAAAGGACCTAAAAAGAAAA	0.328													-	113181367	A	-	113181367	8	5	228	1	0	1	0	1	0	0	1	0	16764	377	13	0		0	TUBGCP3	13	113181367	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	1809342	113181367	1988511	700	115719											
F7	2155	broad.mit.edu	37	chr13	113772750	113772750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacgacctcagcgagcacGacggggatgagcagagccgg	16	12	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:113772750G>A	uc001vsv.2	+	9	880	c.829G>A	c.(829-831)GAC>AAC	p.D277N	F7_uc001vsw.2_Missense_Mutation_p.D255N|F7_uc010tjt.1_Missense_Mutation_p.D208N	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	277	Peptidase S1.		D -> N (in FA7D).		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				0	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)	CAGCGAGCACGACGGGGATGA	0.682													A	113772750	G	A	113772750	3	1	228	1	0	0	0	0	1	0	0	0	5349	1058	37	1	863	1	F7	13	113772750	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	591383	113772750	1397128	701	115720											
GAS6	2621	broad.mit.edu	37	chr13	114542718	114542718	+	Frame_Shift_Del	DEL	C	C	-													tacctttgtcgcagagccggCccccccagccagctttacac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr13:114542717_114542717GC>G	uc001vud.3	-	4	603	c.450_450GC>C	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; 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	Golgi lumen|endoplasmic reticulum lumen|extracellular space|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)				CGCAGAGCCGGCCCCCCCAGC	0.647													-	114542718	C	-	114542718	7	5	228	1	0	1	0	1	0	0	0	0	6249	739	26	0	1631	0	GAS6	13	114542718	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	769968	114542718	627160	702	115721											
RBM23	55147	broad.mit.edu	37	chr14	23375437	23375437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactcctgtaatgcacaCgatcctcacgacgatggtcc	10	13	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:23375437C>T	uc001whg.2	-	5	567	c.368G>A	c.(367-369)CGT>CAT	p.R123H	RBM23_uc001whh.2_Missense_Mutation_p.R107H|RBM23_uc001whi.2_Missense_Mutation_p.R107H|RBM23_uc010tne.1_Translation_Start_Site|RBM23_uc001whj.2_Translation_Start_Site|RBM23_uc001whk.1_Missense_Mutation_p.R123H	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	123	Arg-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GTAATGCACACGATCCTCACG	0.493													T	23375437	C	T	23375437	3	4	228	1	0	0	0	0	1	0	0	0	13123	536	19	1	991	1	RBM23	14	23375437	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		23375437	83974103	703	115722											
HOMEZ	57594	broad.mit.edu	37	chr14	23746064	23746064	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgacggtagactactcGggctcgagtctcttctattt	10	12	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:23746064G>A	uc001wja.2	-	2	521	c.373C>T	c.(373-375)CGA>TGA	p.R125*	HOMEZ_uc001wjb.2_Nonsense_Mutation_p.R127*	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TAGACTACTCGGGCTCGAGTC	0.532													A	23746064	G	A	23746064	4	1	228	1	0	0	0	0	0	1	0	0	7281	1124	39	1	1283	1	HOMEZ	14	23746064	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	370627	23746064	83603476	704	115723											
CPNE6	9362	broad.mit.edu	37	chr14	24546405	24546405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactgacggtgtggtgagcGacatggctgagactcgcact	14	10	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:24546405G>A	uc001wll.2	+	15	1441	c.1342G>A	c.(1342-1344)GAC>AAC	p.D448N	CPNE6_uc010tnv.1_Missense_Mutation_p.D503N|CPNE6_uc001wlm.2_Missense_Mutation_p.D273N|CPNE6_uc001wln.2_Missense_Mutation_p.D116N	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	448	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		TGTGGTGAGCGACATGGCTGA	0.597													A	24546405	G	A	24546405	3	1	228	1	0	0	0	0	1	0	0	0	3816	1058	37	1	1396	1	CPNE6	14	24546405	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	800341	24546405	82803135	705	115724											
IPO4	79711	broad.mit.edu	37	chr14	24651519	24651519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatggcaggaaaccggcaaAgaatggggcaaaggagtctc	14	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:24651519A>C	uc001wmv.1	-	25	2694	c.2563T>G	c.(2563-2565)TTT>GTT	p.F855V	IPO4_uc001wmt.1_Missense_Mutation_p.F333V|IPO4_uc001wmu.2_Missense_Mutation_p.F517V|IPO4_uc001wmx.1_Missense_Mutation_p.F719V|IPO4_uc001wmy.1_Missense_Mutation_p.F719V|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.F855V	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	855					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		AAACCGGCAAAGAATGGGGCA	0.612													C	24651519	A	C	24651519	3	2	228	1	0	0	0	0	1	0	0	0	7795	72	3	5	706	5	IPO4	14	24651519	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	105114	24651519	82698021	706	115725											
GZMH	2999	broad.mit.edu	37	chr14	25077550	25077550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccgactcttctcttGcagaaactgaacaaaggcca	6	14	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:25077550G>A	uc001wpr.1	-	2	169	c.124C>T	c.(124-126)CAA>TAA	p.Q42*	GZMH_uc010aly.1_Nonsense_Mutation_p.Q42*|GZMH_uc010alz.1_Nonsense_Mutation_p.Q42*	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	42	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		CTCTTCTCTTGCAGAAACTGA	0.547													A	25077550	G	A	25077550	4	1	228	1	0	0	0	0	0	1	0	0	6917	1328	46	2	632	2	GZMH	14	25077550	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	426031	25077550	82271990	707	115726											
NPAS3	64067	broad.mit.edu	37	chr14	33684481	33684481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaattggccaagttgttGcctcttcctgcagccattac	8	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:33684481G>A	uc001wru.2	+	3	298	c.234G>A	c.(232-234)TTG>TTA	p.L78L	NPAS3_uc001wrs.2_Silent_p.L48L|NPAS3_uc001wrt.2_Silent_p.L48L|NPAS3_uc001wrv.2_Silent_p.L48L|NPAS3_uc001wrw.2_5'UTR	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	78	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		CCAAGTTGTTGCCTCTTCCTG	0.473													A	33684481	G	A	33684481	2	1	228	1	0	0	0	0	0	0	0	1	10564	1310	46	2		2	NPAS3	14	33684481	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	8606931	33684481	73665059	708	115727											
INSM2	84684	broad.mit.edu	37	chr14	36005057	36005058	+	Frame_Shift_Ins	INS	-	-	T													gcaagcactgcccgtccactINSttttttagctctccagggct							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:36005056_36005057C>CT	uc001wth.1	+	0	1809_1810	c.1598_1599C>CT	c.(1597-1599)actfs	p.T533fs		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	533					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)		TGCCCGTCCACTTTTTTTAGCT	0.629													T	36005058	-	T	36005057	7	5	228	1	0	1	1	0	0	0	0	0	7772	1596	56	0	1601	0	INSM2	14	36005057	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	2320576	36005057	71344483	709	115728											
MIPOL1	145282	broad.mit.edu	37	chr14	37969213	37969213	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagagagaacattgttTccatcactcaacaacaaaat	4	9	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:37969213T>A	uc001wuc.2	+	13	1635	c.1132T>A	c.(1132-1134)TCC>ACC	p.S378T	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S347T|MIPOL1_uc001wud.2_Missense_Mutation_p.S378T|MIPOL1_uc010ams.2_Missense_Mutation_p.S378T|MIPOL1_uc001wue.2_Missense_Mutation_p.S347T|MIPOL1_uc010amt.2_Missense_Mutation_p.S197T	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	378	Potential.									ovary(1)|central_nervous_system(1)	2	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)		GAACATTGTTTCCATCACTCA	0.368													A	37969213	T	A	37969213	3	1	228	1	0	0	0	0	1	0	0	0	9593	1783	62	5	1170	5	MIPOL1	14	37969213	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1964156	37969213	69380327	710	115729											
LRFN5	145581	broad.mit.edu	37	chr14	42356114	42356114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattacacctcatgctttcGctgacctacgaaatttgagg	7	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:42356114G>A	uc001wvm.2	+	3	1484	c.286G>A	c.(286-288)GCT>ACT	p.A96T	LRFN5_uc010ana.2_Missense_Mutation_p.A96T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	96	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCATGCTTTCGCTGACCTACG	0.348										HNSCC(30;0.082)			A	42356114	G	A	42356114	3	1	228	1	0	0	0	0	1	0	0	0	8941	1087	38	1	288	1	LRFN5	14	42356114	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4386901	42356114	64993426	711	115730											
LRFN5	145581	broad.mit.edu	37	chr14	42360855	42360855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaacaagctgtgggacaCgaagagaatgcccagtgttg	12	9	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:42360855C>T	uc001wvm.2	+	4	2986	c.1788C>T	c.(1786-1788)CAC>CAT	p.H596H	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	596	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTGGGACACGAAGAGAATG	0.473										HNSCC(30;0.082)			T	42360855	C	T	42360855	2	4	228	1	0	0	0	0	0	0	0	1	8941	535	19	1		1	LRFN5	14	42360855	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4741	42360855	64988685	712	115731											
FAM179B	23116	broad.mit.edu	37	chr14	45497476	45497476	+	Frame_Shift_Del	DEL	A	A	-													taaagattgtgaaaagaaggAaaaaaattcctgggaacgaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:45497475_45497475GA>G	uc001wvw.3	+	9	3810	c.3601_3601GA>G	c.(3601-3603)gaafs	p.E1201fs	FAM179B_uc001wvv.3_Frame_Shift_Del_p.E1201fs|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1201							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGAAAAGAAGGAAAAAAATTC	0.303													-	45497476	A	-	45497476	7	5	228	1	0	1	0	1	0	0	0	0	5506	246	9	0	3640	0	FAM179B	14	45497476	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	3136621	45497476	61852064	713	115732											
ATP5S	27109	broad.mit.edu	37	chr14	50789395	50789395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagattcaggcgatcgacGccaccgactcttgtatcatg	9	12	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:50789395G>A	uc001wxw.1	+	3	1011	c.319G>A	c.(319-321)GCC>ACC	p.A107T	ATP5S_uc001wxv.2_Missense_Mutation_p.A107T|ATP5S_uc001wxx.1_Missense_Mutation_p.A107T|ATP5S_uc010ant.1_Missense_Mutation_p.A79T	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	107					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			ovary(1)|skin(1)	2	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		GGCGATCGACGCCACCGACTC	0.488													A	50789395	G	A	50789395	3	1	228	1	0	0	0	0	1	0	0	0	1163	1087	38	1	329	1	ATP5S	14	50789395	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5291919	50789395	56560145	714	115733											
CGRRF1	10668	broad.mit.edu	37	chr14	55004968	55004968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgggtactcttaccatGcagacacacatgcctgtgtg	10	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:55004968G>A	uc001xay.2	+	6	957	c.866G>A	c.(865-867)TGC>TAC	p.C289Y	CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	289	RING-type.				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						CTCTTACCATGCAGACACACA	0.468													A	55004968	G	A	55004968	3	1	228	1	0	0	0	0	1	0	0	0	3306	1319	46	2	888	2	CGRRF1	14	55004968	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4215573	55004968	52344572	715	115734											
GPR135	64582	broad.mit.edu	37	chr14	59930776	59930776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgaaatgttgggattgCggatggcgtagatgacaggg	17	5	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:59930776C>T	uc010apj.2	-	1	1284	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	390	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GTTGGGATTGCGGATGGCGTA	0.652													T	59930776	C	T	59930776	3	4	228	1	0	0	0	0	1	0	0	0	6644	768	27	1	319	1	GPR135	14	59930776	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4925808	59930776	47418764	716	115735											
DHRS7	51635	broad.mit.edu	37	chr14	60619659	60619659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgagcagccttacccGgagagcatgcttgctagcac	12	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:60619659G>A	uc001xes.2	-	4	815	c.631C>T	c.(631-633)CGG>TGG	p.R211W	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.R161W|DHRS7_uc001xeu.2_Missense_Mutation_p.R211W	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	211							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		AGCCTTACCCGGAGAGCATGC	0.453													A	60619659	G	A	60619659	3	1	228	1	0	0	0	0	1	0	0	0	4495	1115	39	1	404	1	DHRS7	14	60619659	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	688883	60619659	46729881	717	115736											
SNAPC1	6617	broad.mit.edu	37	chr14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-													ctcagcttgataaaggatgaTttttttgacaatattaagaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:62242910_62242910AT>A	uc001xft.3	+	4	736	c.632_632AT>A	c.(631-633)gatfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(1)		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)		ATAAAGGATGATTTTTTTGAC	0.358													-	62242911	T	-	62242911	7	5	228	1	0	1	0	1	0	0	0	0	14834	1490	52	0	651	0	SNAPC1	14	62242911	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	1623252	62242911	45106629	718	115737											
DCAF5	8816	broad.mit.edu	37	chr14	69520750	69520750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggccatttcagaccCgcaacaatctttgtgtagga	8	12	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:69520750C>T	uc001xkp.2	-	9	2872	c.2653G>A	c.(2653-2655)GGG>AGG	p.G885R	DCAF5_uc001xkq.2_Missense_Mutation_p.G884R	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	885						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						ATTTCAGACCCGCAACAATCT	0.577													T	69520750	C	T	69520750	3	4	228	1	0	0	0	0	1	0	0	0	4273	652	23	1	179	1	DCAF5	14	69520750	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7277839	69520750	37828790	719	115738											
ZFYVE1	53349	broad.mit.edu	37	chr14	73440842	73440842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagtgttctgcacggcctCgcccaccttccgagcaatga	10	15	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:73440842C>T	uc001xnm.2	-	11	2687	c.2047G>A	c.(2047-2049)GAG>AAG	p.E683K	ZFYVE1_uc001xnl.2_Missense_Mutation_p.E268K|ZFYVE1_uc010arj.2_Missense_Mutation_p.E669K	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	683						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			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGCACGGCCTCGCCCACCTTC	0.557													T	73440842	C	T	73440842	3	4	228	1	0	0	0	0	1	0	0	0	17660	893	31	1	294	1	ZFYVE1	14	73440842	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3920092	73440842	33908698	720	115739											
YLPM1	56252	broad.mit.edu	37	chr14	75295977	75295977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgggaggccattgccagCagaatggaggattatcttca	13	8	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:75295977C>T	uc001xqj.3	+	19	6349	c.6225C>T	c.(6223-6225)AGC>AGT	p.S2075S	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCATTGCCAGCAGAATGGAGG	0.473													T	75295977	C	T	75295977	2	4	228	1	0	0	0	0	0	0	0	1	17483	709	25	2		2	YLPM1	14	75295977	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1855135	75295977	32053563	721	115740											
FLVCR2	55640	broad.mit.edu	37	chr14	76045412	76045412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctcggtccatcccagcGtctcggtccatcccagcgtc	10	18	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:76045412G>A	uc001xrs.2	+	1	473	c.97G>A	c.(97-99)GTC>ATC	p.V33I		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	33	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].|2.				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCATCCCAGCGTCTCGGTCCA	0.642													A	76045412	G	A	76045412	3	1	228	1	0	0	0	0	1	0	0	0	5946	1145	40	1	99	1	FLVCR2	14	76045412	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	749435	76045412	31304128	722	115741											
NRXN3	9369	broad.mit.edu	37	chr14	78710050	78710050	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggaccctgtggtgagcGtccctgtgaaaatggtggga	17	8	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:78710050G>A	uc001xum.1	+	2		c.1407G>A						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTGGTGAGCGTCCCTGTGAA	0.567													A	78710050	G	A	78710050	1	1	228	0	1	0	0	0	0	0	0	0	10667	1160	40	1		1	NRXN3	14	78710050	RNA	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2664638	78710050	28639490	723	115742											
FOXN3	1112	broad.mit.edu	37	chr14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-													tgtcagagtgggcaggggatGggggggtgtcatcgtccagg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|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	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587													-	89878534	G	-	89878534	7	5	228	1	0	1	0	1	0	0	0	0	6021	1348	47	0	1209	0	FOXN3	14	89878534	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	11168484	89878534	17471006	724	115743											
KCNK13	56659	broad.mit.edu	37	chr14	90528631	90528631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctggccgcgctcatcGtgctctacctgctgggcggc	14	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:90528631G>A	uc001xye.1	+	1	524	c.82G>A	c.(82-84)GTG>ATG	p.V28M		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	28	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CGCGCTCATCGTGCTCTACCT	0.731													A	90528631	G	A	90528631	3	1	228	1	0	0	0	0	1	0	0	0	8061	1145	40	1	84	1	KCNK13	14	90528631	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	650097	90528631	16820909	725	115744											
BCL11B	64919	broad.mit.edu	37	chr14	99641282	99641282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtcgtcgcccgcgtcccCgccgcccgccgcacgcttca	11	22	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:99641282C>T	uc001yga.2	-	4	2158	c.1891G>A	c.(1891-1893)GGG>AGG	p.G631R	BCL11B_uc001ygb.2_Missense_Mutation_p.G560R	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	631	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cccgcgtccccgccgcccgcc	0.383			T	TLX3	T-ALL								T	99641282	C	T	99641282	3	4	228	1	0	0	0	0	1	0	0	0	1364	652	23	1	797	1	BCL11B	14	99641282	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9112651	99641282	7708258	726	115745											
BCL11B	64919	broad.mit.edu	37	chr14	99641913	99641913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcttggctggcggctgCgggggcggcgtgccgccagg	20	12	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:99641913C>T	uc001yga.2	-	4	1527	c.1260G>A	c.(1258-1260)CCG>CCA	p.P420P	BCL11B_uc001ygb.2_Silent_p.P349P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	420						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGGCGGCTGCGGGGGCGGCG	0.682			T	TLX3	T-ALL								T	99641913	C	T	99641913	2	4	228	1	0	0	0	0	0	0	0	1	1364	755	27	1		1	BCL11B	14	99641913	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	631	99641913	7707627	727	115746											
WDR25	79446	broad.mit.edu	37	chr14	100992293	100992293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcctgagcagcacagaCgcttccacccgggactcagc	11	15	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:100992293C>T	uc010avx.2	+	5	1281	c.1188C>T	c.(1186-1188)GAC>GAT	p.D396D	WDR25_uc001yhm.2_Silent_p.D388D|WDR25_uc001yhn.2_Silent_p.D396D|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Silent_p.D139D	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	396	WD 4.										0		Melanoma(154;0.212)				GCAGCACAGACGCTTCCACCC	0.547													T	100992293	C	T	100992293	2	4	228	1	0	0	0	0	0	0	0	1	17279	535	19	1		1	WDR25	14	100992293	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1350380	100992293	6357247	728	115747											
C14orf73	91828	broad.mit.edu	37	chr14	103573763	103573763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccctctgtccccagccGctcttcagggttgtgtgcac	10	17	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:103573763G>A	uc001ymk.2	+	8	1660	c.1584G>A	c.(1582-1584)CCG>CCA	p.P528P		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	528											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GTCCCCAGCCGCTCTTCAGGG	0.637													A	103573763	G	A	103573763	2	1	228	1	0	0	0	0	0	0	0	1	1779	1074	38	1		1	C14orf73	14	103573763	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2581470	103573763	3775777	729	115748											
ZFYVE21	79038	broad.mit.edu	37	chr14	104199060	104199060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggacgtgactgtgggCaggaggcaggcggtggcgtg	23	6	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr14:104199060C>T	uc001yoc.2	+	6	664	c.630C>T	c.(628-630)GGC>GGT	p.G210G	ZFYVE21_uc001yod.2_Silent_p.G228G|ZFYVE21_uc001yoe.2_RNA	NM_024071	NP_076976	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	210						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding				0		Melanoma(154;0.226)		Epithelial(152;0.245)		TGACTGTGGGCAGGAGGCAGG	0.632													T	104199060	C	T	104199060	2	4	228	1	0	0	0	0	0	0	0	1	17664	697	25	2		2	ZFYVE21	14	104199060	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	625297	104199060	3150480	730	115749											
CYFIP1	23191	broad.mit.edu	37	chr15	22997854	22997854	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagaacatcttgccgCgagtccatgtgaaaggtgag	11	10	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:22997854C>T	uc001yus.2	+	27	3204	c.3100C>T	c.(3100-3102)CGA>TGA	p.R1034*	CYFIP1_uc001yut.2_Nonsense_Mutation_p.R1034*|CYFIP1_uc001yuu.2_Nonsense_Mutation_p.R603*|CYFIP1_uc001yuv.2_Nonsense_Mutation_p.R228*	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	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			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		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)		CATCTTGCCGCGAGTCCATGT	0.572													T	22997854	C	T	22997854	4	4	228	1	0	0	0	0	0	1	0	0	4137	760	27	1	3583	1	CYFIP1	15	22997854	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		22997854	79533538	731	115750											
NDN	4692	broad.mit.edu	37	chr15	23932077	23932077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccttctgcaccagctgCgccggggctggcggtgccgg	17	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:23932077C>T	uc001ywk.2	-	1	374	c.288G>A	c.(286-288)GCG>GCA	p.A96A		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	96					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		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)		GCACCAGCTGCGCCGGGGCTG	0.677									Prader-Willi_syndrome				T	23932077	C	T	23932077	2	4	228	1	0	0	0	0	0	0	0	1	10247	755	27	1		1	NDN	15	23932077	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	934223	23932077	78599315	732	115751											
GABRB3	2562	broad.mit.edu	37	chr15	26866614	26866614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaagcgtgaggttgagaGggatcccagaataggcgagc	16	7	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:26866614G>T	uc001zaz.2	-	4	450	c.308C>A	c.(307-309)CCT>CAT	p.P103H	GABRB3_uc010uae.1_Missense_Mutation_p.P18H|GABRB3_uc001zba.2_Missense_Mutation_p.P103H|GABRB3_uc001zbb.2_Missense_Mutation_p.P159H|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	103	Extracellular (Probable).				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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	GAGGTTGAGAGGGATCCCAGA	0.418													T	26866614	G	T	26866614	3	4	228	1	0	0	0	0	1	0	0	0	6168	1000	35	5	1137	5	GABRB3	15	26866614	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2934537	26866614	75664778	733	115752											
OTUD7A	161725	broad.mit.edu	37	chr15	31776256	31776256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccgcagtagcggcgtcGcggcgccgctgctcctgctc	16	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:31776256G>A	uc001zfq.2	-	11	2115	c.2022C>T	c.(2020-2022)CGC>CGT	p.R674R	OTUD7A_uc001zfr.2_Silent_p.R681R	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	674						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		tagcggcgTCGCGGCGCCGCT	0.488													A	31776256	G	A	31776256	2	1	228	1	0	0	0	0	0	0	0	1	11318	1074	38	1		1	OTUD7A	15	31776256	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4909642	31776256	70755136	734	115753											
AQR	9716	broad.mit.edu	37	chr15	35174732	35174732	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcttgaccaagtcatgtcGttttaaggcagcatgagtac	10	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:35174732G>A	uc001ziv.2	-	27	3317	c.3136C>T	c.(3136-3138)CGA>TGA	p.R1046*		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1046						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		AAGTCATGTCGTTTTAAGGCA	0.353													A	35174732	G	A	35174732	4	1	228	1	0	0	0	0	0	1	0	0	835	1153	40	1	1357	1	AQR	15	35174732	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3398476	35174732	67356660	735	115754											
ZNF770	54989	broad.mit.edu	37	chr15	35273570	35273570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcgacaatttacataaccGaatctaaggcaaccactttc	5	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:35273570G>A	uc001ziw.2	-	3	2377	c.2066C>T	c.(2065-2067)TCG>TTG	p.S689L		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TTACATAACCGAATCTAAGGC	0.388													A	35273570	G	A	35273570	3	1	228	1	0	0	0	0	1	0	0	0	18140	1059	37	1	13	1	ZNF770	15	35273570	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	98838	35273570	67257822	736	115755											
PLA2G4D	283748	broad.mit.edu	37	chr15	42379564	42379564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgactggtgtcggtgagCgtcttggtcttaaacttcat	13	7	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:42379564C>T	uc001zox.2	-	3	284	c.189G>A	c.(187-189)ACG>ACA	p.T63T		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	63	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		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)		TGTCGGTGAGCGTCTTGGTCT	0.552													T	42379564	C	T	42379564	2	4	228	1	0	0	0	0	0	0	0	1	12004	755	27	1		1	PLA2G4D	15	42379564	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7105994	42379564	60151828	737	115756											
CDAN1	146059	broad.mit.edu	37	chr15	43021535	43021535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactactgcctgacacccaCgaagcgagcagtttccggag	10	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:43021535C>T	uc001zql.2	-	18	2550	c.2433G>A	c.(2431-2433)TCG>TCA	p.S811S	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.S137S	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	811						integral to membrane	protein binding			ovary(2)	2		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)		CTGACACCCACGAAGCGAGCA	0.567													T	43021535	C	T	43021535	2	4	228	1	0	0	0	0	0	0	0	1	3054	523	19	1		1	CDAN1	15	43021535	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	641971	43021535	59509857	738	115757											
ELL3	80237	broad.mit.edu	37	chr15	44066858	44066858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcttgctcccaatcTtctccctcttgtaaatcctg	3	15	6	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:44066858T>G	uc001zsw.1	-	7	1162	c.759A>C	c.(757-759)GAA>GAC	p.E253D	ELL3_uc001zsv.1_Missense_Mutation_p.E207D|ELL3_uc001zsx.1_Missense_Mutation_p.E138D|uc001zsy.2_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	253					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				ovary(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)		GCTCCCAATCTTCTCCCTCTT	0.473													G	44066858	T	G	44066858	3	3	228	1	0	0	0	0	1	0	0	0	5064	1606	56	5	454	5	ELL3	15	44066858	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1045323	44066858	58464534	739	115758											
ELL3	80237	broad.mit.edu	37	chr15	44089043	44089044	+	Splice_Site	DEL	CT	CT	-													atccaggtcctgtcccttacCtctctctggaggacggctgg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:44089042_44089043CCT>C	uc001zsx.1	-	3	369	c.-616_splice	c.e3+1		C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Splice_Site|SERINC4_uc010bds.1_Splice_Site_p.V70_splice|SERINC4_uc001zte.1_Splice_Site_p.V70_splice|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.						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)		CTGTCCCTTACCTCTCTCTGGA	0.505													-	44089044	CT	-	44089043	8	5	228	1	0	1	0	1	0	0	1	0	5064	695	24	0		0	ELL3	15	44089043	Splice_Site	DEL	CT	TCGA-D7-A4YV-01A-11D-A25D-08	22185	44089043	58442349	740	115759											
SPG11	80208	broad.mit.edu	37	chr15	44856842	44856842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaagaatcacttgctggtAtaaaatttcagcccaatctg	6	8	3	1	rs149711747		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:44856842A>G	uc001ztx.2	-	39	7085	c.7054T>C	c.(7054-7056)TAC>CAC	p.Y2352H	SPG11_uc010bdw.2_Missense_Mutation_p.Y482H|SPG11_uc010ueh.1_Missense_Mutation_p.Y2239H|SPG11_uc010uei.1_Intron	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	2352	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		ACTTGCTGGTATAAAATTTCA	0.378													G	44856842	A	G	44856842	3	3	228	1	0	0	0	0	1	0	0	0	15040	449	16	3	285	3	SPG11	15	44856842	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	767799	44856842	57674550	741	115760											
SORD	6652	broad.mit.edu	37	chr15	45364620	45364620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggatatcaagggcgtgTttcgatactgcaacacgtga	13	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:45364620T>C	uc001zul.3	+	8	1033	c.892T>C	c.(892-894)TTT>CTT	p.F298L	SORD_uc001zum.3_Missense_Mutation_p.F298L|SORD_uc010bdz.2_Missense_Mutation_p.F219L	NM_003104	NP_003095	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	298					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				0		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)	CAAGGGCGTGTTTCGATACTG	0.617													C	45364620	T	C	45364620	3	2	228	1	0	0	0	0	1	0	0	0	14933	1725	60	3	922	3	SORD	15	45364620	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	507778	45364620	57166772	742	115761											
DUOX2	50506	broad.mit.edu	37	chr15	45392007	45392007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagagaacatgaaggagaCgctggccgccgtgcctcgtg	14	10	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:45392007C>T	uc010bea.2	-	25	3471	c.3268G>A	c.(3268-3270)GTC>ATC	p.V1090I	DUOX2_uc001zun.2_Missense_Mutation_p.V1090I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1090	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		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)		ATGAAGGAGACGCTGGCCGCC	0.577													T	45392007	C	T	45392007	3	4	228	1	0	0	0	0	1	0	0	0	4801	536	19	1	1418	1	DUOX2	15	45392007	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	27387	45392007	57139385	743	115762											
AP4E1	23431	broad.mit.edu	37	chr15	51250726	51250726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctcttagataaggaaaCgccagaggaagttatagcta	9	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:51250726C>T	uc001zyx.1	+	14	1616	c.1586C>T	c.(1585-1587)ACG>ATG	p.T529M		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	529					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GATAAGGAAACGCCAGAGGAA	0.338													T	51250726	C	T	51250726	3	4	228	1	0	0	0	0	1	0	0	0	752	536	19	1	1640	1	AP4E1	15	51250726	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5858719	51250726	51280666	744	115763											
MYO5A	4644	broad.mit.edu	37	chr15	52668563	52668563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgggcctggtagccccGcacgtatctctgcatggtga	12	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:52668563G>A	uc002aby.2	-	19	2645	c.2401C>T	c.(2401-2403)CGG>TGG	p.R801W	MYO5A_uc002abx.3_Missense_Mutation_p.R801W|MYO5A_uc010uge.1_Missense_Mutation_p.R670W	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	801	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGGTAGCCCCGCACGTATCTC	0.562													A	52668563	G	A	52668563	3	1	228	1	0	0	0	0	1	0	0	0	10078	1086	38	1	3258	1	MYO5A	15	52668563	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1417837	52668563	49862829	745	115764											
UNC13C	440279	broad.mit.edu	37	chr15	54307148	54307148	+	Frame_Shift_Del	DEL	T	T	-													tgattatgaaacaaacagtcTttttgaccaacagcttgatg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:54307147_54307147CT>C	uc021smr.1	+	0	2047	c.2047_2047CT>C	c.(2047-2049)cttfs	p.L683fs	UNC13C_uc021sms.1_Frame_Shift_Del_p.L683fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	683					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)		AACAAACAGTCTTTTTGACCA	0.398													-	54307148	T	-	54307148	7	5	228	1	0	1	0	1	0	0	0	0	16983	1609	56	0	2050	0	UNC13C	15	54307148	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	1638585	54307148	48224244	746	115765											
CGNL1	84952	broad.mit.edu	37	chr15	57730401	57730401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcctagcaggcacatcGttttctgaaaatgggccacc	11	12	1	1	rs143019005		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:57730401G>A	uc002aeg.2	+	2	280	c.204G>A	c.(202-204)TCG>TCA	p.S68S	CGNL1_uc010bfw.2_Silent_p.S68S	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	68	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGGCACATCGTTTTCTGAAA	0.493													A	57730401	G	A	57730401	2	1	228	1	0	0	0	0	0	0	0	1	3304	1132	40	1		1	CGNL1	15	57730401	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3423253	57730401	44800991	747	115766											
SLTM	79811	broad.mit.edu	37	chr15	59182634	59182634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgcgttctcgctctcgaCgctctctctctgcaatctct	6	15	5	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:59182634C>T	uc002afp.2	-	15	2013	c.1925G>A	c.(1924-1926)CGT>CAT	p.R642H	SLTM_uc002afn.2_Missense_Mutation_p.R184H|SLTM_uc002afo.2_Missense_Mutation_p.R624H|SLTM_uc002afq.2_Missense_Mutation_p.R211H|SLTM_uc010bgd.2_Missense_Mutation_p.R211H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	642	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TCGCTCTCGACGCTCTCTCTC	0.403													T	59182634	C	T	59182634	3	4	228	1	0	0	0	0	1	0	0	0	14754	536	19	1	1207	1	SLTM	15	59182634	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1452233	59182634	43348758	748	115767											
RNF111	54778	broad.mit.edu	37	chr15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-													tccaggcgggcacatgaacgCcccccaccccatccacatag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:59376342_59376342GC>G	uc002afv.3	+	8	2591	c.2312_2312GC>G	c.(2311-2313)cgcfs	p.R771fs	RNF111_uc002afs.3_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.3_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.3_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.3_5'Flank	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	771	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R771C(1)		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)		GCACATGAACGCCCCCCACCC	0.443													-	59376343	C	-	59376343	7	5	228	1	0	1	0	1	0	0	0	0	13425	726	26	0	2343	0	RNF111	15	59376343	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	193709	59376343	43155049	749	115768											
IGDCC3	9543	broad.mit.edu	37	chr15	65627671	65627671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgatccggatactggCgatgtttgaggccacacagt	14	9	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:65627671C>T	uc002aos.2	-	4	895	c.643G>A	c.(643-645)GCC>ACC	p.A215T		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	215	Extracellular (Potential).|Ig-like C2-type 2.									ovary(3)	3						CGGATACTGGCGATGTTTGAG	0.607													T	65627671	C	T	65627671	3	4	228	1	0	0	0	0	1	0	0	0	7568	768	27	1	1845	1	IGDCC3	15	65627671	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6251328	65627671	36903721	750	115769											
LBXCOR1	390598	broad.mit.edu	37	chr15	68119726	68119726	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagccgtggcggcggcAgcggcggcggcagcggcagc	22	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:68119726A>G	uc002aqy.1	+	3	1428	c.1428A>G	c.(1426-1428)GCA>GCG	p.A476A		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	520					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						tggcggcggcagcggcggcgg	0.507													G	68119726	A	G	68119726	2	3	228	1	0	0	0	0	0	0	0	1	8655	175	7	3		3	LBXCOR1	15	68119726	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	2492055	68119726	34411666	751	115770											
PIAS1	8554	broad.mit.edu	37	chr15	68466135	68466135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatctacaatgttttgaCgcaactctttacattcagat	4	10	4	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:68466135C>T	uc002aqz.2	+	9	1170	c.1074C>T	c.(1072-1074)GAC>GAT	p.D358D	PIAS1_uc002ara.2_5'Flank	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	358	SP-RING-type.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						AATGTTTTGACGCAACTCTTT	0.378													T	68466135	C	T	68466135	2	4	228	1	0	0	0	0	0	0	0	1	11875	535	19	1		1	PIAS1	15	68466135	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	346409	68466135	34065257	752	115771											
FEM1B	10116	broad.mit.edu	37	chr15	68583314	68583314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgcccttcatattatcGttcagtacaacaggcccatc	6	13	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:68583314G>A	uc002arg.2	+	2	2233	c.1618G>A	c.(1618-1620)GTT>ATT	p.V540I	FEM1B_uc002arh.2_Missense_Mutation_p.V460I	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	540	ANK 8.				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						TCATATTATCGTTCAGTACAA	0.473													A	68583314	G	A	68583314	3	1	228	1	0	0	0	0	1	0	0	0	5810	1145	40	1	1624	1	FEM1B	15	68583314	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	117179	68583314	33948078	753	115772											
NOX5	79400	broad.mit.edu	37	chr15	69329504	69329504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcggactggcagtgtcccGcatggcagccgtgtgcatca	13	13	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:69329504G>A	uc002ars.1	+	8	1345	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	NOX5_uc002arp.1_Missense_Mutation_p.R424H|NOX5_uc002arq.1_Missense_Mutation_p.R396H|NOX5_uc010bid.1_Missense_Mutation_p.R407H|NOX5_uc002arr.1_Missense_Mutation_p.R414H|NOX5_uc010bie.1_Missense_Mutation_p.R242H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	442	FAD-binding FR-type.|Helical; (Potential).				angiogenesis|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|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(1)|pancreas(1)	2						GCAGTGTCCCGCATGGCAGCC	0.562													A	69329504	G	A	69329504	3	1	228	1	0	0	0	0	1	0	0	0	10559	1087	38	1	1388	1	NOX5	15	69329504	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	746190	69329504	33201888	754	115773											
PAQR5	54852	broad.mit.edu	37	chr15	69677138	69677138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacttgtgtccagctgtgCgcacaccttcagctctatgt	8	15	2	0	rs142266731	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:69677138C>T	uc002arz.2	+	5	680	c.302C>T	c.(301-303)GCG>GTG	p.A101V	PAQR5_uc002asa.2_Missense_Mutation_p.A101V	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	101	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						TCCAGCTGTGCGCACACCTTC	0.522													T	69677138	C	T	69677138	3	4	228	1	0	0	0	0	1	0	0	0	11438	768	27	1	312	1	PAQR5	15	69677138	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	347634	69677138	32854254	755	115774											
ADPGK	83440	broad.mit.edu	37	chr15	73052857	73052857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttggaccaactggaccGcaaagaagaacctggaggca	12	10	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:73052857G>A	uc002avg.3	-	4	628	c.534C>T	c.(532-534)TGC>TGT	p.C178C	ADPGK_uc010ukw.1_Silent_p.C120C|ADPGK_uc002avf.3_Silent_p.C178C|ADPGK_uc002avi.3_Silent_p.C56C|ADPGK_uc002avh.3_5'UTR	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	178	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding				0						CAACTGGACCGCAAAGAAGAA	0.502													A	73052857	G	A	73052857	2	1	228	1	0	0	0	0	0	0	0	1	330	1079	38	1		1	ADPGK	15	73052857	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3375719	73052857	29478535	756	115775											
STOML1	9399	broad.mit.edu	37	chr15	74281035	74281035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttctgggctgtcatgcGtgtggctgtgttcaggtctt	16	8	4	0	rs116083516	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:74281035G>A	uc002awe.2	-	4	570	c.499C>T	c.(499-501)CGC>TGC	p.R167C	STOML1_uc002awf.2_Missense_Mutation_p.R167C|STOML1_uc010bje.2_Missense_Mutation_p.R167C|STOML1_uc010uld.1_Missense_Mutation_p.R125C|STOML1_uc002awh.2_Missense_Mutation_p.R117C|STOML1_uc002awg.2_Missense_Mutation_p.R117C|STOML1_uc002awi.2_Missense_Mutation_p.R80C	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	167	Cytoplasmic (Potential).					integral to membrane	sterol binding			skin(1)	1						GCTGTCATGCGTGTGGCTGTG	0.597													A	74281035	G	A	74281035	3	1	228	1	0	0	0	0	1	0	0	0	15312	1145	40	1	713	1	STOML1	15	74281035	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1228178	74281035	28250357	757	115776											
CSK	1445	broad.mit.edu	37	chr15	75091203	75091203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaaaacaaggtgggcCgtgagggcatcatcccagcc	12	12	1	1	rs144688425		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:75091203C>T	uc010bkb.1	+	5	349	c.166C>T	c.(166-168)CGT>TGT	p.R56C	CSK_uc010bka.2_Silent_p.A158A|CSK_uc002ays.2_Missense_Mutation_p.R56C|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	56	Interaction with PTPN8 (By similarity).|SH3.				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			lung(2)|central_nervous_system(1)	3						CAAGGTGGGCCGTGAGGGCAT	0.632													T	75091203	C	T	75091203	3	4	228	1	0	0	0	0	1	0	0	0	3943	652	23	1	176	1	CSK	15	75091203	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	810168	75091203	27440189	758	115777											
C15orf39	56905	broad.mit.edu	37	chr15	75500385	75500385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcacctttgcctgcagccGtggtcccgtccacgcccacc	10	20	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:75500385G>A	uc002azp.3	+	2	2316	c.1996G>A	c.(1996-1998)GTG>ATG	p.V666M	C15orf39_uc002azq.3_Missense_Mutation_p.V666M|C15orf39_uc002azr.3_Missense_Mutation_p.V64M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	666											0						GCCTGCAGCCGTGGTCCCGTC	0.607													A	75500385	G	A	75500385	3	1	228	1	0	0	0	0	1	0	0	0	1793	1145	40	1	1998	1	C15orf39	15	75500385	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	409182	75500385	27031007	759	115778											
CTSH	1512	broad.mit.edu	37	chr15	79220087	79220087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacatccttgacaaagcCgatggcctttccaggttgga	11	11	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:79220087C>T	uc002ben.2	-	10	728	c.631G>A	c.(631-633)GGC>AGC	p.G211S	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Missense_Mutation_p.G63S	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	223					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						TTGACAAAGCCGATGGCCTTT	0.532													T	79220087	C	T	79220087	3	4	228	1	0	0	0	0	1	0	0	0	4036	652	23	1	356	1	CTSH	15	79220087	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3719702	79220087	23311305	760	115779											
EFTUD1	79631	broad.mit.edu	37	chr15	82444713	82444713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgggggttttgtgattgtTtctctgaatggaataatagg	13	2	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:82444713T>C	uc002bgt.1	-	18	2251	c.2082A>G	c.(2080-2082)GAA>GAG	p.E694E	EFTUD1_uc002bgs.1_Silent_p.E65E|EFTUD1_uc002bgu.1_Silent_p.E643E	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	694					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						TTGTGATTGTTTCTCTGAATG	0.333													C	82444713	T	C	82444713	2	2	228	1	0	0	0	0	0	0	0	1	4960	1838	64	3		3	EFTUD1	15	82444713	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	3224626	82444713	20086679	761	115780											
MAN2A2	4122	broad.mit.edu	37	chr15	91453768	91453768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctggctgcagctcacGctcgccgctctggtctggct	12	16	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:91453768G>A	uc010bnz.2	+	11	1730	c.1615G>A	c.(1615-1617)GCT>ACT	p.A539T	MAN2A2_uc010boa.2_Missense_Mutation_p.A581T|MAN2A2_uc002bqc.2_Missense_Mutation_p.A539T|MAN2A2_uc010uql.1_Missense_Mutation_p.A201T|MAN2A2_uc010uqm.1_Missense_Mutation_p.A118T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	539	Lumenal (Potential).				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			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGCTCACGCTCGCCGCTC	0.632													A	91453768	G	A	91453768	3	1	228	1	0	0	0	0	1	0	0	0	9215	1087	38	1	1653	1	MAN2A2	15	91453768	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	9009055	91453768	11077624	762	115781											
SNRPA1	6627	broad.mit.edu	37	chr15	101833235	101833236	+	Frame_Shift_Del	DEL	TC	TC	-													cctacagacacgtaccatatTctgttgttgttcactaacaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:101833234_101833235TTC>T	uc002bww.3	-	1	302_303	c.225_226GAA>A	c.(223-228)agaatafs	p.R75fs	SNRPA1_uc002bwx.3_Intron|SNRPA1_uc010bpc.3_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A' (SNRPA1), mRNA.	75						U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTACCATATTCTGTTGTTGT	0.381													-	101833236	TC	-	101833235	7	5	228	1	0	1	0	1	0	0	0	0	14860	1780	62	0	574	0	SNRPA1	15	101833235	Frame_Shift_Del	DEL	TC	TCGA-D7-A4YV-01A-11D-A25D-08	10379467	101833235	698157	763	115782											
PCSK6	5046	broad.mit.edu	37	chr15	101938761	101938761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgaccacatctgtgacatCgccgtccagcatgcggatgc	10	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr15:101938761C>T	uc002bwy.2	-	8	1158	c.844G>A	c.(844-846)GAT>AAT	p.D282N	PCSK6_uc010bpd.2_Missense_Mutation_p.D152N|PCSK6_uc010bpe.2_Missense_Mutation_p.D282N|PCSK6_uc002bxa.2_Missense_Mutation_p.D282N|PCSK6_uc002bxb.2_Missense_Mutation_p.D282N|PCSK6_uc002bxc.1_Missense_Mutation_p.D282N|PCSK6_uc002bxd.1_Missense_Mutation_p.D282N|PCSK6_uc002bxe.2_Missense_Mutation_p.D282N|PCSK6_uc002bxg.1_Missense_Mutation_p.D282N	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	282	Catalytic.				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			pancreas(2)	2	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)			TCTGTGACATCGCCGTCCAGC	0.652													T	101938761	C	T	101938761	3	4	228	1	0	0	0	0	1	0	0	0	11604	884	31	1	2608	1	PCSK6	15	101938761	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	105526	101938761	592631	764	115783											
SOLH	6650	broad.mit.edu	37	chr16	602866	602866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcctgtgcccagggcCgtgagggcatgacctgctac	13	14	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:602866C>T	uc002chi.2	+	13	3271	c.2908C>T	c.(2908-2910)CGT>TGT	p.R970C	SOLH_uc002chj.2_Missense_Mutation_p.R30C	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	970					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				TGCCCAGGGCCGTGAGGGCAT	0.677													T	602866	C	T	602866	3	4	228	1	0	0	0	0	1	0	0	0	14925	652	23	1	2946	1	SOLH	16	602866	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		602866	89751887	765	115784											
RHBDL1	9028	broad.mit.edu	37	chr16	726267	726267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctgatgctcccagccagCctggcccagccctttggtcc	10	18	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:726267C>A	uc002cis.1	+	1	193	c.166C>A	c.(166-168)CCT>ACT	p.P56T	RHBDL1_uc002cir.1_Intron|RHBDL1_uc010uun.1_Intron	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	56					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				TCCCAGCCAGCCTGGCCCAGC	0.677													A	726267	C	A	726267	3	1	228	1	0	0	0	0	1	0	0	0	13321	739	26	5	168	5	RHBDL1	16	726267	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	123401	726267	89628486	766	115785											
MSLNL	401827	broad.mit.edu	37	chr16	820111	820111	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggtggtgctggggggCcccctggtgccgtgggctgg	23	9	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:820111C>G	uc002cjz.1	-	15	2874	c.2874G>C	c.(2872-2874)GGG>GGC	p.G958G	MIR662_hsa-mir-662|MI0003670_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	607	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						TGCTGGGGGGCCCCCTGGTGC	0.726													G	820111	C	G	820111	2	3	228	1	0	0	0	0	0	0	0	1	9882	726	26	5		5	MSLNL	16	820111	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	93844	820111	89534642	767	115786											
LMF1	64788	broad.mit.edu	37	chr16	918962	918962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggcgggggcctgcccGcgaaggggttgtgtgccagc	19	12	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:918962G>A	uc002ckj.2	-	10	1515	c.1511C>T	c.(1510-1512)GCG>GTG	p.A504V	LMF1_uc010brg.2_RNA|LMF1_uc010brh.2_Missense_Mutation_p.A287V|LMF1_uc010bri.2_Missense_Mutation_p.A267V|LMF1_uc002ckk.2_Missense_Mutation_p.A287V	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	lipase maturation factor 1	504	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)				GGGCCTGCCCGCGAAGGGGTT	0.667													A	918962	G	A	918962	3	1	228	1	0	0	0	0	1	0	0	0	8845	1087	38	1	200	1	LMF1	16	918962	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	98851	918962	89435791	768	115787											
PTX4	390667	broad.mit.edu	37	chr16	1537746	1537746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgaggtccaaggcccGcagccgcgtgtctactttcc	13	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:1537746G>A	uc010uvf.1	-	2	352	c.352C>T	c.(352-354)CGG>TGG	p.R118W		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	123						extracellular region	metal ion binding				0						TCCAAGGCCCGCAGCCGCGTG	0.692													A	1537746	G	A	1537746	3	1	228	1	0	0	0	0	1	0	0	0	12823	1086	38	1	1076	1	PTX4	16	1537746	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	618784	1537746	88817007	769	115788											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1810419	1810419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgacctgattgccaAggtcgaccagctgtccgggg	14	10	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:1810419A>C	uc002cmk.2	+	12	1460	c.1340A>C	c.(1339-1341)AAG>ACG	p.K447T	MAPK8IP3_uc002cml.2_Missense_Mutation_p.K441T|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.K448T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	447	Potential.				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CTGATTGCCAAGGTCGACCAG	0.557													C	1810419	A	C	1810419	3	2	228	1	0	0	0	0	1	0	0	0	9286	72	3	5	1402	5	MAPK8IP3	16	1810419	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	272673	1810419	88544334	770	115789											
CASKIN1	57524	broad.mit.edu	37	chr16	2230946	2230946	+	Frame_Shift_Del	DEL	G	G	-													ctgtcggcggcagcagctgcGgggtgggcttcaccttggcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:2230946delG	uc010bsg.1	-	18	2455	c.2423delC	c.(2422-2424)CCGfs	p.P808fs		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	808	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						CAGCAGCTGCGGGGTGGGCTT	0.711													-	2230946	G	-	2230946	7	5	228	1	0	1	0	1	0	0	0	0	2666	1116	39	0	1884	0	CASKIN1	16	2230946	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	420527	2230946	88123807	771	115790											
CLDN6	9074	broad.mit.edu	37	chr16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-													taatggctggggccctgggaCccccccgaggggcaagtgca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:3065455_3065455AC>A	uc021tbb.1	-	0	568	c.568_568GT>T	c.(568-570)tccfs	p.S190fs	CLDN6_uc002csu.4_Frame_Shift_Del_p.S190fs	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	190					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.G189R(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAG	0.647													-	3065456	C	-	3065456	7	5	228	1	0	1	0	1	0	0	0	0	3489	494	18	0	99	0	CLDN6	16	3065456	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	834510	3065456	87289297	772	115791											
USP7	7874	broad.mit.edu	37	chr16	9000393	9000394	+	Frame_Shift_Ins	INS	-	-	T													gcagggtccttaggatctgtINStttttgcaaaaattcatcaa							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:9000392_9000393G>GT	uc002czl.2	-	12	1517_1518	c.1318_1319C>AC	c.(1318-1320)acafs	p.T440fs	USP7_uc010uyk.1_Frame_Shift_Ins_p.T341fs|USP7_uc010uyj.1_Frame_Shift_Ins_p.T341fs|USP7_uc002czk.2_Frame_Shift_Ins_p.T424fs|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	440					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	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						CTTAGGATCTGTTTTTTGCAAA	0.332													T	9000394	-	T	9000393	7	5	228	1	0	1	1	0	0	0	0	0	17085	1725	60	0	2066	0	USP7	16	9000393	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	5934937	9000393	81354360	773	115792											
GRIN2A	2903	broad.mit.edu	37	chr16	10274018	10274018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgaggtcgcacacgtgcGtgatgaggctcttggggtcg	16	9	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:10274018G>A	uc002czo.3	-	2	799	c.251C>T	c.(250-252)ACG>ATG	p.T84M	GRIN2A_uc010uym.1_Missense_Mutation_p.T84M|GRIN2A_uc002czr.3_Missense_Mutation_p.T84M|GRIN2A_uc010buk.2_Missense_Mutation_p.T84M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	84	Extracellular (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCACACGTGCGTGATGAGGCT	0.647													A	10274018	G	A	10274018	3	1	228	1	0	0	0	0	1	0	0	0	6779	1145	40	1	4191	1	GRIN2A	16	10274018	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1273625	10274018	80080735	774	115793											
ZC3H7A	29066	broad.mit.edu	37	chr16	11850178	11850178	+	Frame_Shift_Del	DEL	T	T	-													ctatgtcttcacttttttcaTttttttgactcttgagccat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:11850177_11850177AT>A	uc002dbk.3	-	19	2676	c.2478_2478AT>T	c.(2476-2478)aatfs	p.N826fs	ZC3H7A_uc002dbi.3_Frame_Shift_Del_p.N14fs|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Frame_Shift_Del_p.N826fs|ZC3H7A_uc002dbm.2_Frame_Shift_Del_p.N736fs	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	826						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						CACTTTTTTCATTTTTTTGAC	0.353													-	11850178	T	-	11850178	7	5	228	1	0	1	0	1	0	0	0	0	17569	1493	52	0	450	0	ZC3H7A	16	11850178	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	1576160	11850178	78504575	775	115794											
MYH11	4629	broad.mit.edu	37	chr16	15820852	15820852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacccgcagctccccGgccaggtctgcgttctcttt	10	18	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:15820852G>A	uc002ddy.2	-	28	3818	c.3711C>T	c.(3709-3711)GCC>GCT	p.A1237A	MYH11_uc002ddv.2_Silent_p.A1244A|MYH11_uc002ddw.2_Silent_p.A1237A|MYH11_uc002ddx.2_Silent_p.A1244A|MYH11_uc010bvg.2_Silent_p.A1069A|MYH11_uc010bvh.2_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1237	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCAGCTCCCCGGCCAGGTCTG	0.602			T	CBFB	AML								A	15820852	G	A	15820852	2	1	228	1	0	0	0	0	0	0	0	1	10031	1103	39	1		1	MYH11	16	15820852	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3970674	15820852	74533901	776	115795											
ACSM2B	348158	broad.mit.edu	37	chr16	20548601	20548601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcgcacgggcttttccGgacatcttccactccttgtc	8	16	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:20548601G>A	uc002dhj.3	-	15	1923	c.1713C>T	c.(1711-1713)TCC>TCT	p.S571S	ACSM2B_uc002dhk.3_Silent_p.S571S	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	571					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						GGGCTTTTCCGGACATCTTCC	0.463													A	20548601	G	A	20548601	2	1	228	1	0	0	0	0	0	0	0	1	184	1103	39	1		1	ACSM2B	16	20548601	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4727749	20548601	69806152	777	115796											
DCTN5	84516	broad.mit.edu	37	chr16	23676952	23676952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattttaatttcaggggcgCcgatgtgtgttgaaagactg	13	5	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:23676952C>T	uc002dly.1	+	5	411	c.354C>T	c.(352-354)CGC>CGT	p.R118R		NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	dynactin 5	118						centrosome	transferase activity			upper_aerodigestive_tract(1)	1				GBM - Glioblastoma multiforme(48;0.0156)		TTCAGGGGCGCCGATGTGTGT	0.428													T	23676952	C	T	23676952	2	4	228	1	0	0	0	0	0	0	0	1	4310	726	26	2		2	DCTN5	16	23676952	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3128351	23676952	66677801	778	115797											
TNRC6A	27327	broad.mit.edu	37	chr16	24802783	24802783	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggggagattcgtcaaagccAgtcagctctccagactggaa	12	10	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:24802783A>T	uc002dmm.2	+	6	2934	c.2820A>T	c.(2818-2820)CCA>CCT	p.P940P	TNRC6A_uc010bxs.2_Silent_p.P687P|TNRC6A_uc010vcc.1_Silent_p.P687P|TNRC6A_uc002dmn.2_Silent_p.P687P|TNRC6A_uc002dmo.2_Silent_p.P687P	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	940	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CGTCAAAGCCAGTCAGCTCTC	0.527													T	24802783	A	T	24802783	2	4	228	1	0	0	0	0	0	0	0	1	16337	175	7	5		5	TNRC6A	16	24802783	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1125831	24802783	65551970	779	115798											
IL21R	50615	broad.mit.edu	37	chr16	27445682	27445682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccaggctggggctgccccGacctcgtctgctacaccgat	11	17	1	0	rs149169230		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:27445682G>A	uc002doq.1	+	3	297	c.64G>A	c.(64-66)GAC>AAC	p.D22N	IL21R_uc002dor.1_Missense_Mutation_p.D22N|IL21R_uc002dos.1_Missense_Mutation_p.D22N	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	22	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GGGCTGCCCCGACCTCGTCTG	0.632			T	BCL6	NHL								A	27445682	G	A	27445682	3	1	228	1	0	0	0	0	1	0	0	0	7671	1058	37	1	70	1	IL21R	16	27445682	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2642899	27445682	62909071	780	115799											
GTF3C1	2975	broad.mit.edu	37	chr16	27499592	27499592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagggtccttcttcagcCgcttccgcttctggcttttc	8	16	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:27499592C>T	uc002dov.1	-	23	3696	c.3656G>A	c.(3655-3657)CGG>CAG	p.R1219Q	GTF3C1_uc002dou.2_Missense_Mutation_p.R1219Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1219	Arg/Lys-rich (basic).					transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTTCTTCAGCCGCTTCCGCTT	0.522													T	27499592	C	T	27499592	3	4	228	1	0	0	0	0	1	0	0	0	6872	652	23	1	2733	1	GTF3C1	16	27499592	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	53910	27499592	62855161	781	115800											
KIAA0556	23247	broad.mit.edu	37	chr16	27761440	27761440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggctggcccccttcacGcggggcagatcccactccat	11	17	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:27761440G>A	uc002dow.2	+	16	3183	c.3159G>A	c.(3157-3159)ACG>ACA	p.T1053T		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1053										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CCCCCTTCACGCGGGGCAGAT	0.547													A	27761440	G	A	27761440	2	1	228	1	0	0	0	0	0	0	0	1	8183	1074	38	1		1	KIAA0556	16	27761440	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	261848	27761440	62593313	782	115801											
LAT	27040	broad.mit.edu	37	chr16	28997873	28997873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaagccaacagtgtggCgagctacgagaacgagggtg	15	8	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:28997873C>T	uc002dsd.2	+	6	675	c.323C>T	c.(322-324)GCG>GTG	p.A108V	uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.A144V|LAT_uc002dsb.2_Missense_Mutation_p.A108V|LAT_uc002dsc.2_Missense_Mutation_p.A107V|LAT_uc010vdk.1_Intron|LAT_uc010vdl.1_Missense_Mutation_p.A107V	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	108	Cytoplasmic (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				AACAGTGTGGCGAGCTACGAG	0.632													T	28997873	C	T	28997873	3	4	228	1	0	0	0	0	1	0	0	0	8644	768	27	1	457	1	LAT	16	28997873	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1236433	28997873	61356880	783	115802											
GDPD3	79153	broad.mit.edu	37	chr16	30124114	30124114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagcgctgggccatggaGctgtgggggtgaaggtcagc	19	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:30124114G>A	uc002dwp.2	-	3	262	c.183C>T	c.(181-183)AAC>AAT	p.N61N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_5'UTR|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	61	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						GGGCCATGGAGCTGTGGGGGT	0.652											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30124114	G	A	30124114	2	1	228	1	0	0	0	0	0	0	0	1	6325	985	34	2		2	GDPD3	16	30124114	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1126241	30124114	60230639	784	115803											
ZNF668	79759	broad.mit.edu	37	chr16	31075642	31075642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcttcagagcagtctgCcggcccatgtgtggcagcgt	12	14	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31075642C>T	uc010caf.2	-	2	496	c.139G>A	c.(139-141)GCA>ACA	p.A47T	ZNF668_uc002eao.2_Missense_Mutation_p.A47T|ZNF668_uc010cag.1_Missense_Mutation_p.A47T	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GAGCAGTCTGCCGGCCCATGT	0.637													T	31075642	C	T	31075642	3	4	228	1	0	0	0	0	1	0	0	0	18072	739	26	2	1728	2	ZNF668	16	31075642	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	951528	31075642	59279111	785	115804											
ITGAX	3687	broad.mit.edu	37	chr16	31368597	31368597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggccccaccgtgcaccaCgagtgcgggaggaacatgta	14	13	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31368597C>T	uc002ebu.1	+	5	409	c.342C>T	c.(340-342)CAC>CAT	p.H114H	ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebt.2_Silent_p.H114H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	114	FG-GAP 2.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCGTGCACCACGAGTGCGGGA	0.692													T	31368597	C	T	31368597	2	4	228	1	0	0	0	0	0	0	0	1	7889	535	19	1		1	ITGAX	16	31368597	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	292955	31368597	58986156	786	115805											
ITGAD	3681	broad.mit.edu	37	chr16	31422475	31422475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacctgatcctcattgggGccccccattactatgagcag	9	15	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31422475G>A	uc002ebv.1	+	13	1484	c.1435G>A	c.(1435-1437)GCC>ACC	p.A479T	ITGAD_uc010cap.1_Missense_Mutation_p.A479T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	479	Extracellular (Potential).|FG-GAP 5.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CCTCATTGGGGCCCCCCATTA	0.652													A	31422475	G	A	31422475	3	1	228	1	0	0	0	0	1	0	0	0	7884	1203	42	2	1485	2	ITGAD	16	31422475	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	53878	31422475	58932278	787	115806											
TGFB1I1	7041	broad.mit.edu	37	chr16	31487822	31487822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatggtgaccgccttgggCactcactggcacccagagca	12	13	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:31487822C>T	uc002ecd.1	+	9	935	c.909C>T	c.(907-909)GGC>GGT	p.G303G	TGFB1I1_uc002ece.1_Silent_p.G286G|TGFB1I1_uc010caq.1_Silent_p.G142G	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	303	LIM zinc-binding 2.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						CCGCCTTGGGCACTCACTGGC	0.637													T	31487822	C	T	31487822	2	4	228	1	0	0	0	0	0	0	0	1	15814	697	25	2		2	TGFB1I1	16	31487822	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	65347	31487822	58866931	788	115807											
ITFG1	81533	broad.mit.edu	37	chr16	47493063	47493063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagggtgcattctggtctgCcaaaaagacgattaagtcat	10	7	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:47493063C>T	uc002eet.2	-	2	294	c.232G>A	c.(232-234)GCA>ACA	p.A78T	ITFG1_uc010vgh.1_5'UTR|PHKB_uc010vgi.1_5'Flank|PHKB_uc002eeu.3_5'Flank|PHKB_uc002eev.3_5'Flank|ITFG1_uc010cbf.1_5'UTR	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	78						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTCTGGTCTGCCAAAAAGACG	0.264													T	47493063	C	T	47493063	3	4	228	1	0	0	0	0	1	0	0	0	7869	739	26	2	1674	2	ITFG1	16	47493063	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	16005241	47493063	42861690	789	115808											
LPCAT2	54947	broad.mit.edu	37	chr16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggatggctacataaCggaggaagagttctccacca	12	8	1	3	rs142090669	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:55613052C>T	uc002eie.3	+	13	1527	c.1346C>T	c.(1345-1347)ACG>ATG	p.T449M	LPCAT2_uc002eic.2_Missense_Mutation_p.T179M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	449	2 (Potential).|EF-hand 2.|Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GGCTACATAACGGAGGAAGAG	0.433													T	55613052	C	T	55613052	3	4	228	1	0	0	0	0	1	0	0	0	8911	536	19	1	1396	1	LPCAT2	16	55613052	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	8119989	55613052	34741701	790	115809											
MMP15	4324	broad.mit.edu	37	chr16	58073847	58073847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgcagggccttccgcgTgtgggagcaggccacgcccc	17	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:58073847T>C	uc002ena.2	+	4	1482	c.509T>C	c.(508-510)GTG>GCG	p.V170A		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	170	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						GCCTTCCGCGTGTGGGAGCAG	0.632													C	58073847	T	C	58073847	3	2	228	1	0	0	0	0	1	0	0	0	9654	1696	59	3	523	3	MMP15	16	58073847	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2460795	58073847	32280906	791	115810											
EXOC3L	283849	broad.mit.edu	37	chr16	67221678	67221678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcccgaaggctcaCatatgcctccaagaactgtt	7	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:67221678C>T	uc002erx.1	-	5	731	c.490G>A	c.(490-492)GTG>ATG	p.V164M	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.V108M|EXOC3L_uc010vje.1_Missense_Mutation_p.V103M	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	164	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CGAAGGCTCACATATGCCTCC	0.602													T	67221678	C	T	67221678	3	4	228	1	0	0	0	0	1	0	0	0	5304	478	17	4	1790	4	EXOC3L	16	67221678	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9147831	67221678	23133075	792	115811											
PLEKHG4	25894	broad.mit.edu	37	chr16	67322100	67322100	+	Frame_Shift_Del	DEL	C	C	-													tcgggcgtccattgccgtagCcccgtttgaccatgacagcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:67322099_67322099GC>G	uc010cef.3	+	19	3549	c.3250_3250GC>G	c.(3250-3252)gccfs	p.A1084fs	PLEKHG4_uc002eso.4_Frame_Shift_Del_p.A1084fs|PLEKHG4_uc002esp.4_Frame_Shift_Del_p.A891fs|PLEKHG4_uc002esq.4_Frame_Shift_Del_p.A1084fs|PLEKHG4_uc002ess.4_Frame_Shift_Del_p.A1084fs|PLEKHG4_uc010ceg.3_Frame_Shift_Del_p.A1003fs	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1084					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A1084S(2)		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)		CATTGCCGTAGCCCCGTTTGA	0.607													-	67322100	C	-	67322100	7	5	228	1	0	1	0	1	0	0	0	0	12071	739	26	0	3325	0	PLEKHG4	16	67322100	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	100422	67322100	23032653	793	115812											
SMPD3	55512	broad.mit.edu	37	chr16	68405383	68405383	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctccgggctgctgctgtcGacagggtccccagaggctgg	15	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:68405383G>A	uc002ewa.2	-	3	1124	c.702C>T	c.(700-702)GTC>GTT	p.V234V	SMPD3_uc010cfe.2_Silent_p.V234V|SMPD3_uc010vlh.1_Silent_p.V234V	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	234	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGCTGCTGTCGACAGGGTCCC	0.697													A	68405383	G	A	68405383	2	1	228	1	0	0	0	0	0	0	0	1	14806	1045	37	1		1	SMPD3	16	68405383	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1083283	68405383	21949370	794	115813											
AP1G1	164	broad.mit.edu	37	chr16	71779166	71779166	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaacaaatccaataaaTcattggcctaaacaaggtaa	4	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:71779166T>A	uc010cgg.2	-	19	2194	c.1880A>T	c.(1879-1881)GAT>GTT	p.D627V	AP1G1_uc002fba.2_Missense_Mutation_p.D630V|AP1G1_uc002fbb.2_Missense_Mutation_p.D650V|AP1G1_uc002faz.2_Missense_Mutation_p.D44V	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	627					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			ovary(2)	2		Ovarian(137;0.125)				ATCCAATAAATCATTGGCCTA	0.358													A	71779166	T	A	71779166	3	1	228	1	0	0	0	0	1	0	0	0	732	1435	50	5	608	5	AP1G1	16	71779166	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	3373783	71779166	18575587	795	115814											
FA2H	79152	broad.mit.edu	37	chr16	74752943	74752943	+	Frame_Shift_Del	DEL	G	G	-													atgaggtaatagctgtcgctGgggggcttcatgtggaacag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:74752942_74752942TG>T	uc002fde.2	-	4	806	c.730_730CA>A	c.(730-732)agcfs	p.S244fs	FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	244					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						TAGCTGTCGCTGGGGGGCTTC	0.617													-	74752943	G	-	74752943	7	5	228	1	0	1	0	1	0	0	0	0	5352	1335	47	0	401	0	FA2H	16	74752943	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	2973777	74752943	15601810	796	115815											
CDYL2	124359	broad.mit.edu	37	chr16	80718950	80718950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccacgtgtcctcggtgCtcccgtagcctttccatcgg	10	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:80718950C>T	uc002ffs.2	-	2	206	c.101G>A	c.(100-102)AGC>AAC	p.S34N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	34	Chromo.					nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						GTCCTCGGTGCTCCCGTAGCC	0.483													T	80718950	C	T	80718950	3	4	228	1	0	0	0	0	1	0	0	0	3186	797	28	2	1443	2	CDYL2	16	80718950	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5966007	80718950	9635803	797	115816											
TAF1C	9013	broad.mit.edu	37	chr16	84214674	84214674	+	Frame_Shift_Del	DEL	G	G	-													tacagacgagatgaagagtaGgggggaggcatttggggctg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:84214673_84214673AG>A	uc002fhn.3	-	10	1604	c.1362_1362CT>T	c.(1360-1362)cctfs	p.P454fs	TAF1C_uc010vnz.2_Frame_Shift_Del_p.P122fs|TAF1C_uc002fho.3_Intron|TAF1C_uc010voa.2_Frame_Shift_Del_p.P122fs|TAF1C_uc002fhm.3_Frame_Shift_Del_p.P361fs|TAF1C_uc010vnx.2_Frame_Shift_Del_p.P428fs|TAF1C_uc010vny.2_Frame_Shift_Del_p.P45fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	454					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						GATGAAGAGTAGGGGGGAGGC	0.592													-	84214674	G	-	84214674	7	5	228	1	0	1	0	1	0	0	0	0	15518	1000	35	0	1264	0	TAF1C	16	84214674	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	3495724	84214674	6140079	798	115817											
KLHL36	79786	broad.mit.edu	37	chr16	84690609	84690609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcgcaacctgctggccGtgtgcagcgactacttcaac	9	16	1	0	rs140616787		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:84690609G>A	uc002fig.2	+	3	337	c.196G>A	c.(196-198)GTG>ATG	p.V66M	KLHL36_uc010chl.2_Missense_Mutation_p.V65M	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	66	BTB.									skin(2)	2						CCTGCTGGCCGTGTGCAGCGA	0.632													A	84690609	G	A	84690609	3	1	228	1	0	0	0	0	1	0	0	0	8389	1145	40	1	202	1	KLHL36	16	84690609	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	475935	84690609	5664144	799	115818											
COX4NB	10328	broad.mit.edu	37	chr16	85814059	85814059	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggcgctacgcagtccatCgtaaacttggtgttgtctac	11	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:85814059C>T	uc002fjd.2	-	4	646	c.399G>A	c.(397-399)ACG>ACA	p.T133T	COX4NB_uc010vol.1_Intron	NM_006067	NP_006058	O43402	CX4NB_HUMAN	COX4 neighbor isoform 1	133						mitochondrion|nucleus					0						CGCAGTCCATCGTAAACTTGG	0.607													T	85814059	C	T	85814059	2	4	228	1	0	0	0	0	0	0	0	1	3771	871	31	1		1	COX4NB	16	85814059	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1123450	85814059	4540694	800	115819											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445497	87445497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgctggaagtagttggCgtagctgacagtcaggccac	16	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:87445497C>T	uc002fjz.1	-	12	2446	c.2419G>A	c.(2419-2421)GCC>ACC	p.A807T	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.A583T	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	807					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AAGTAGTTGGCGTAGCTGACA	0.672													T	87445497	C	T	87445497	3	4	228	1	0	0	0	0	1	0	0	0	17580	768	27	1	438	1	ZCCHC14	16	87445497	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1631438	87445497	2909256	801	115820											
CDH15	1013	broad.mit.edu	37	chr16	89257844	89257844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccccttcctcaagggcGgctggtacagagccatcgtc	11	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:89257844G>A	uc002fmt.2	+	9	1416	c.1339G>A	c.(1339-1341)GGC>AGC	p.G447S		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	447	Cadherin 4.|Extracellular (Potential).				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			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTCAAGGGCGGCTGGTACAG	0.692													A	89257844	G	A	89257844	3	1	228	1	0	0	0	0	1	0	0	0	3100	1116	39	1	1373	1	CDH15	16	89257844	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1812347	89257844	1096909	802	115821											
ANKRD11	29123	broad.mit.edu	37	chr16	89341276	89341276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagcatcgtgcaggcGctgaatggcactgcctggtt	13	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr16:89341276G>A	uc002fmx.1	-	11	8120	c.7659C>T	c.(7657-7659)AGC>AGT	p.S2553S	ANKRD11_uc002fmy.1_Silent_p.S2553S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2553						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TCGTGCAGGCGCTGAATGGCA	0.622													A	89341276	G	A	89341276	2	1	228	1	0	0	0	0	0	0	0	1	639	1078	38	1		1	ANKRD11	16	89341276	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	83432	89341276	1013477	803	115822											
RNMTL1	55178	broad.mit.edu	37	chr17	694859	694859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attatcaataatctggaatgGgaaaccgtgcccaattacct	7	9	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:694859G>T	uc002frw.2	+	4	919	c.813G>T	c.(811-813)TGG>TGT	p.W271C		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	271					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ATCTGGAATGGGAAACCGTGC	0.527													T	694859	G	T	694859	3	4	228	1	0	0	0	0	1	0	0	0	13507	1241	43	5	827	5	RNMTL1	17	694859	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		694859	80500351	804	115823											
PELP1	27043	broad.mit.edu	37	chr17	4585839	4585839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaaataggtcatacaagcCttcattccttccaatgctga	8	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:4585839C>A	uc002fyi.3	-	5	826	c.600G>T	c.(598-600)AAG>AAT	p.K200N	PELP1_uc010vsf.1_Missense_Mutation_p.K53N	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	200					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						TCATACAAGCCTTCATTCCTT	0.488													A	4585839	C	A	4585839	3	1	228	1	0	0	0	0	1	0	0	0	11725	680	24	5	2844	5	PELP1	17	4585839	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3890980	4585839	76609371	805	115824											
PLD2	5338	broad.mit.edu	37	chr17	4722104	4722104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtattcaatcctgcatcGccttaaagcagccagtgagt	10	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:4722104G>A	uc002fzc.2	+	21	2260	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H	PLD2_uc002fzd.2_Missense_Mutation_p.R720H	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	720	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	ATCCTGCATCGCCTTAAAGCA	0.637													A	4722104	G	A	4722104	3	1	228	1	0	0	0	0	1	0	0	0	12046	1087	38	1	2237	1	PLD2	17	4722104	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	136265	4722104	76473106	806	115825											
CAMTA2	23125	broad.mit.edu	37	chr17	4883438	4883439	+	Frame_Shift_Ins	INS	-	-	C													agtctgggcttactccctgcINSccccctccatatgtctggcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:4883437_4883438G>GC	uc010cku.2	-	8	1660_1661	c.1248_1249C>GC	c.(1246-1251)gggcagfs	p.G416fs	CAMTA2_uc002gag.2_Frame_Shift_Ins_p.G392fs|CAMTA2_uc002gah.2_Frame_Shift_Ins_p.G393fs|CAMTA2_uc002gai.2_Frame_Shift_Ins_p.G395fs|CAMTA2_uc010ckv.1_Frame_Shift_Ins_p.G40fs|CAMTA2_uc010vsu.2_Frame_Shift_Ins_p.G206fs	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	393					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTACTCCCTGCCCCCCTCCAT	0.649													C	4883439	-	C	4883438	7	5	228	1	0	1	1	0	0	0	0	0	2614	726	26	0	2539	0	CAMTA2	17	4883438	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	161334	4883438	76311772	807	115826											
BCL6B	255877	broad.mit.edu	37	chr17	6930927	6930927	+	Frame_Shift_Del	DEL	G	G	-													aagtgcactaccacattctcGgggggccctagctgagcgca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:6930926_6930926CG>C	uc010clt.1	+	8	1490	c.1428_1428CG>C	c.(1426-1428)ctcfs	p.L476fs	BCL6B_uc002geg.2_Frame_Shift_Del_p.L476fs	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	476						nucleus	zinc ion binding			skin(1)	1						ACCACATTCTCGGGGGGCCCT	0.622													-	6930927	G	-	6930927	7	5	228	1	0	1	0	1	0	0	0	0	1377	1116	39	0	1459	0	BCL6B	17	6930927	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	2047489	6930927	74264283	808	115827											
POLR2A	5430	broad.mit.edu	37	chr17	7399624	7399624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacaatgaaagttttgCgctgtgtctgcttcttctgc	10	8	3	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:7399624C>T	uc002ghf.3	+	3	556	c.322C>T	c.(322-324)CGC>TGC	p.R108C	POLR2A_uc002ghe.2_Missense_Mutation_p.R108C	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	108					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			pancreas(1)	1		Prostate(122;0.173)				GAAAGTTTTGCGCTGTGTCTG	0.562													T	7399624	C	T	7399624	3	4	228	1	0	0	0	0	1	0	0	0	12214	768	27	1	332	1	POLR2A	17	7399624	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	468697	7399624	73795586	809	115828											
CHD3	1107	broad.mit.edu	37	chr17	7814849	7814849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggcattggtgtcagaCgggctggatcggaaggagcc	20	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:7814849C>T	uc002gje.2	+	40	6099	c.5949C>T	c.(5947-5949)GAC>GAT	p.D1983D	CHD3_uc002gjd.2_Silent_p.D2042D|CHD3_uc002gjf.2_Silent_p.D1949D|CHD3_uc002gjh.2_Silent_p.D560D|CHD3_uc002gjj.2_Silent_p.D146D	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1983					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(1)	1		Prostate(122;0.202)				TGGTGTCAGACGGGCTGGATC	0.612													T	7814849	C	T	7814849	2	4	228	1	0	0	0	0	0	0	0	1	3326	535	19	1		1	CHD3	17	7814849	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	415225	7814849	73380361	810	115829											
ODF4	146852	broad.mit.edu	37	chr17	8243371	8243371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaagtggtgctcaagaTggatgcagagtactctggga	17	5	2	3	rs140462392	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:8243371T>C	uc002gle.1	+	1	184	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	1					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1						GTGCTCAAGATGGATGCAGAG	0.507													C	8243371	T	C	8243371	3	2	228	1	0	0	0	0	1	0	0	0	10833	1464	51	3	4	3	ODF4	17	8243371	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	428522	8243371	72951839	811	115830											
MYH10	4628	broad.mit.edu	37	chr17	8451698	8451698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaatatttccaaactgTagcactgaagatactacttt	5	7	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:8451698T>C	uc002gll.2	-	10	1158	c.1062A>G	c.(1060-1062)CTA>CTG	p.L354L	MYH10_uc002glm.2_Silent_p.L364L|MYH10_uc010cnx.2_Silent_p.L363L	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	354	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			ovary(2)	2						TTCCAAACTGTAGCACTGAAG	0.294													C	8451698	T	C	8451698	2	2	228	1	0	0	0	0	0	0	0	1	10030	1625	57	3		3	MYH10	17	8451698	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	208327	8451698	72743512	812	115831											
MYH13	8735	broad.mit.edu	37	chr17	10248819	10248819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaatgtccaagacccCgatgaagtactgcctgggct	11	13	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:10248819C>T	uc002gmk.1	-	14	1468	c.1378G>A	c.(1378-1380)GGG>AGG	p.G460R	MYH13_uc010vvf.1_Missense_Mutation_p.G135R	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	460	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCCAAGACCCCGATGAAGTAC	0.507													T	10248819	C	T	10248819	3	4	228	1	0	0	0	0	1	0	0	0	10032	652	23	1	4550	1	MYH13	17	10248819	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1797121	10248819	70946391	813	115832											
MYH2	4620	broad.mit.edu	37	chr17	10448726	10448726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcggggcctcctggcGctttttgcctcggtaggctg	18	11	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:10448726G>A	uc010coi.2	-	5	570	c.442C>T	c.(442-444)CGC>TGC	p.R148C	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R148C|MYH2_uc010coj.2_Missense_Mutation_p.R148C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	148	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			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCCTCCTGGCGCTTTTTGCCT	0.537													A	10448726	G	A	10448726	3	1	228	1	0	0	0	0	1	0	0	0	10035	1087	38	1	5527	1	MYH2	17	10448726	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	199907	10448726	70746484	814	115833											
MYH3	4621	broad.mit.edu	37	chr17	10535908	10535908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccatcttcttcttgagcCggatggcttcattcctgctc	7	15	4	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:10535908C>T	uc002gmq.1	-	33	4918	c.4841G>A	c.(4840-4842)CGG>CAG	p.R1614Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1614	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CTTCTTGAGCCGGATGGCTTC	0.582													T	10535908	C	T	10535908	3	4	228	1	0	0	0	0	1	0	0	0	10036	652	23	1	1013	1	MYH3	17	10535908	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	87182	10535908	70659302	815	115834											
MYOCD	93649	broad.mit.edu	37	chr17	12642606	12642606	+	Frame_Shift_Del	DEL	C	C	-													gcggggaagcaggggcttggCccccccagcacccccatagc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:12642605_12642605GC>G	uc002gno.2	+	6	976	c.677_677GC>G	c.(676-678)ggcfs	p.G226fs	MYOCD_uc002gnn.2_Frame_Shift_Del_p.G226fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.G130fs	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	226					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	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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)		CAGGGGCTTGGCCCCCCCAGC	0.582													-	12642606	C	-	12642606	7	5	228	1	0	1	0	1	0	0	0	0	10087	726	26	0	704	0	MYOCD	17	12642606	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	2106698	12642606	68552604	816	115835											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400128	13400128	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccagggttctgggcaTcaggtccctgagaaacgcaa	12	13	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:13400128T>G	uc002gob.1	-	2	1405	c.607A>C	c.(607-609)ATG>CTG	p.M203L		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	203	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTCTGGGCATCAGGTCCCTG	0.502													G	13400128	T	G	13400128	3	3	228	1	0	0	0	0	1	0	0	0	7365	1435	50	5	617	5	HS3ST3A1	17	13400128	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	757522	13400128	67795082	817	115836											
NCOR1	9611	broad.mit.edu	37	chr17	16012111	16012111	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgagataccttcgctgtctTctggattttcttcttcattg	7	9	5	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:16012111T>A	uc002gpo.2	-	19	2411	c.2171A>T	c.(2170-2172)GAA>GTA	p.E724V	NCOR1_uc002gpn.2_Missense_Mutation_p.E724V|NCOR1_uc002gpp.1_Missense_Mutation_p.E615V|NCOR1_uc002gpr.2_Missense_Mutation_p.E615V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	724					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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCGCTGTCTTCTGGATTTTC	0.383													A	16012111	T	A	16012111	3	1	228	1	0	0	0	0	1	0	0	0	10235	1783	62	5	5263	5	NCOR1	17	16012111	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2611983	16012111	65183099	818	115837											
MYO15A	51168	broad.mit.edu	37	chr17	18042911	18042911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctggacctgttcgtaCggagccggacacgggtaagc	15	10	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:18042911C>T	uc010vxh.1	+	18	5535	c.5197C>T	c.(5197-5199)CGG>TGG	p.R1733W		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1733	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTGTTCGTACGGAGCCGGAC	0.642													T	18042911	C	T	18042911	3	4	228	1	0	0	0	0	1	0	0	0	10063	527	19	1	5263	1	MYO15A	17	18042911	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2030800	18042911	63152299	819	115838											
SMCR8	140775	broad.mit.edu	37	chr17	18220410	18220410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggaactgggagatgAggagtacaaggaagtggaag	19	3	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:18220410A>C	uc002gsy.3	+	1	1817	c.1307A>C	c.(1306-1308)GAG>GCG	p.E436A		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	436										central_nervous_system(1)	1						CTGGGAGATGAGGAGTACAAG	0.453													C	18220410	A	C	18220410	3	2	228	1	0	0	0	0	1	0	0	0	14792	304	11	5	1309	5	SMCR8	17	18220410	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	177499	18220410	62974800	820	115839											
CYTSB	92521	broad.mit.edu	37	chr17	20135577	20135577	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtggtggtggccaatgAcatcaagtgtgaggcccagc	15	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:20135577A>T	uc002gwq.2	+	7	2355	c.2210A>T	c.(2209-2211)GAC>GTC	p.D737V	CYTSB_uc010cqx.2_Missense_Mutation_p.D737V|CYTSB_uc002gwr.2_Missense_Mutation_p.D737V|CYTSB_uc002gws.2_Missense_Mutation_p.D737V|CYTSB_uc002gwv.2_Missense_Mutation_p.D656V|CYTSB_uc010vzf.1_Missense_Mutation_p.D77V|CYTSB_uc002gww.2_Missense_Mutation_p.D513V|CYTSB_uc002gwt.2_Missense_Mutation_p.D656V|CYTSB_uc002gwu.2_Missense_Mutation_p.D656V	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	737	Potential.					nucleus					0						GTGGCCAATGACATCAAGTGT	0.592													T	20135577	A	T	20135577	3	4	228	1	0	0	0	0	1	0	0	0	4210	275	10	5	2276	5	CYTSB	17	20135577	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1915167	20135577	61059633	821	115840											
FOXN1	8456	broad.mit.edu	37	chr17	26851931	26851931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggcttctcagcagaGgcctggtgtaacgggctccc	13	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:26851931G>T	uc010crm.2	+	3	732	c.534G>T	c.(532-534)GAG>GAT	p.E178D	FOXN1_uc002hbj.2_Missense_Mutation_p.E178D	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	178					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			skin(1)	1	Lung NSC(42;0.00431)					TCTCAGCAGAGGCCTGGTGTA	0.642													T	26851931	G	T	26851931	3	4	228	1	0	0	0	0	1	0	0	0	6019	991	35	5	540	5	FOXN1	17	26851931	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6716354	26851931	54343279	822	115841											
NUFIP2	57532	broad.mit.edu	37	chr17	27613259	27613259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggctccactctcactagTagtcccagattttagaatgc	7	11	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:27613259T>C	uc002hdy.3	-	2	1842	c.1753A>G	c.(1753-1755)ACT>GCT	p.T585A	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	585						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTCTCACTAGTAGTCCCAGAT	0.473													C	27613259	T	C	27613259	3	2	228	1	0	0	0	0	1	0	0	0	10749	1638	57	3	346	3	NUFIP2	17	27613259	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	761328	27613259	53581951	823	115842											
ANKRD13B	124930	broad.mit.edu	37	chr17	27938981	27938981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactttgagctgggcaacCgtgatatgggccgccccatg	12	13	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:27938981C>T	uc002hei.2	+	10	1170	c.1057C>T	c.(1057-1059)CGT>TGT	p.R353C	ANKRD13B_uc002heh.2_Missense_Mutation_p.R221C|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	353											0						GCTGGGCAACCGTGATATGGG	0.602													T	27938981	C	T	27938981	3	4	228	1	0	0	0	0	1	0	0	0	642	652	23	1	1095	1	ANKRD13B	17	27938981	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	325722	27938981	53256229	824	115843											
SLFN11	91607	broad.mit.edu	37	chr17	33690288	33690288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttgggtcagcaggatccGagttagggagctcttggtat	15	6	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:33690288G>A	uc010ctp.2	-	4	981	c.539C>T	c.(538-540)TCG>TTG	p.S180L	SLFN11_uc010ctq.2_Missense_Mutation_p.S180L|SLFN11_uc002hjh.3_Missense_Mutation_p.S180L|SLFN11_uc002hjg.3_Missense_Mutation_p.S180L|SLFN11_uc010ctr.2_Missense_Mutation_p.S180L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	180						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGGATCCGAGTTAGGGAG	0.428													A	33690288	G	A	33690288	3	1	228	1	0	0	0	0	1	0	0	0	14733	1059	37	1	2182	1	SLFN11	17	33690288	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5751307	33690288	47504922	825	115844											
KRT12	3859	broad.mit.edu	37	chr17	39020063	39020063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccactccgggggcagcGtccatttctacgctgacctc	11	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:39020063G>A	uc002hvk.2	-	4	885	c.861C>T	c.(859-861)GAC>GAT	p.D287D		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	287	Rod.|Linker 12.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CGGGGGCAGCGTCCATTTCTA	0.557													A	39020063	G	A	39020063	2	1	228	1	0	0	0	0	0	0	0	1	8449	1136	40	1		1	KRT12	17	39020063	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5329775	39020063	42175147	826	115845											
KRT23	25984	broad.mit.edu	37	chr17	39092801	39092801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccggccccagccacctcCggcgccatggaaggaggccg	16	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:39092801C>T	uc002hvm.1	-	2	644	c.55G>A	c.(55-57)GGA>AGA	p.G19R	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.G19R|KRT23_uc002hvn.1_Missense_Mutation_p.G19R	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	19	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CAGCCACCTCCGGCGCCATGG	0.692													T	39092801	C	T	39092801	3	4	228	1	0	0	0	0	1	0	0	0	8460	661	23	1	1245	1	KRT23	17	39092801	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	72738	39092801	42102409	827	115846											
MLX	6945	broad.mit.edu	37	chr17	40721266	40721266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtccccacttgccagcaGcaggacttctccattggctc	8	16	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:40721266G>A	uc002iag.2	+	5	548	c.483G>A	c.(481-483)CAG>CAA	p.Q161Q	MLX_uc002iaf.2_Silent_p.Q107Q|MLX_uc002iah.2_Silent_p.Q77Q	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	161					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CTTGCCAGCAGCAGGACTTCT	0.512													A	40721266	G	A	40721266	2	1	228	1	0	0	0	0	0	0	0	1	9635	962	34	2		2	MLX	17	40721266	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1628465	40721266	40473944	828	115847											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839042	40839042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagacctggccgtgcggcGccattcccggatcaccttcg	12	17	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:40839042G>A	uc002iay.2	+	7	1238	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	341	Laminin G-like 1.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCGTGCGGCGCCATTCCCGG	0.597													A	40839042	G	A	40839042	3	1	228	1	0	0	0	0	1	0	0	0	3646	1087	38	1	1048	1	CNTNAP1	17	40839042	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	117776	40839042	40356168	829	115848											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-													accctgcccttcagccccctGggggggtgccatccagcctg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		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)		TTCAGCCCCCTGGGGGGGTGC	0.632													-	40939870	G	-	40939870	7	5	228	1	0	1	0	1	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	100828	40939870	40255340	830	115849											
KIF18B	146909	broad.mit.edu	37	chr17	43008979	43008979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatacctactgcttagaaCggtccccatccagttcccgt	7	14	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:43008979C>T	uc010wji.1	-	11	1645	c.1544G>A	c.(1543-1545)CGT>CAT	p.R515H	KIF18B_uc002iht.2_Missense_Mutation_p.R515H|KIF18B_uc010wjh.1_Missense_Mutation_p.R503H	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				CTGCTTAGAACGGTCCCCATC	0.567													T	43008979	C	T	43008979	3	4	228	1	0	0	0	0	1	0	0	0	8281	536	19	1	1046	1	KIF18B	17	43008979	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2069109	43008979	38186231	831	115850											
HEXIM1	10614	broad.mit.edu	37	chr17	43227526	43227531	+	In_Frame_Del	DEL	GGAGCT	GGAGCT	-													ggcgacgacgcgcgtgtgcgGgagctggagctggagctgga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:43227525_43227530GGGAGCT>G	uc002iig.3	+	0	2842_2847	c.968_973GGGAGCT>G	c.(967-975)cgggagctg>cGtg	p.EL328del		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	328	Required for inhibition of ESR1-dependent transcription.				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			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGCTGGA	0.665													-	43227531	GGAGCT	-	43227526	7	5	228	1	0	1	0	1	0	0	0	0	7076	1219	43	0	971	0	HEXIM1	17	43227526	In_Frame_Del	DEL	GGAGCT	TCGA-D7-A4YV-01A-11D-A25D-08	218547	43227526	37967684	832	115851											
RPRML	388394	broad.mit.edu	37	chr17	45056238	45056238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccccgtcgctggcggCcagcggtgcgccccctggac	17	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:45056238C>T	uc002ilb.2	-	1	377	c.136G>A	c.(136-138)GCC>ACC	p.A46T	GOSR2_uc010wkh.1_Intron	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN	reprimo-like	46						integral to membrane					0						TCGCTGGCGGCCAGCGGTGCG	0.667													T	45056238	C	T	45056238	3	4	228	1	0	0	0	0	1	0	0	0	13619	739	26	2	230	2	RPRML	17	45056238	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1828712	45056238	36138972	833	115852											
HOXB2	3212	broad.mit.edu	37	chr17	46622002	46622003	+	Frame_Shift_Ins	INS	-	-	G													ccaagggaactcgggggccgINSggggggcagcggggagtggc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:46622001_46622002C>CG	uc002inm.3	-	0	392_393	c.272_273G>CG	c.(271-273)ccgfs	p.P91fs		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	91					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A92fs*74(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						ACTcgggggccgggggggcagc	0.698													G	46622003	-	G	46622002	7	5	228	1	0	1	1	0	0	0	0	0	7301	1116	39	0	806	0	HOXB2	17	46622002	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	1565764	46622002	34573208	834	115853											
SNF8	11267	broad.mit.edu	37	chr17	47014454	47014454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtaatagaagtcccccaCgcccagcatctcagaccaaa	6	15	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:47014454C>T	uc002ioj.2	-	4	335	c.277G>A	c.(277-279)GTG>ATG	p.V93M	SNF8_uc002iok.2_Missense_Mutation_p.V93M	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	EAP30 subunit of ELL complex	93					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				0						AAGTCCCCCACGCCCAGCATC	0.458													T	47014454	C	T	47014454	3	4	228	1	0	0	0	0	1	0	0	0	14846	536	19	1	519	1	SNF8	17	47014454	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	392452	47014454	34180756	835	115854											
SPAG9	9043	broad.mit.edu	37	chr17	49098699	49098699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtggtagctttagatcCgccttggctaacatcagaaa	11	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:49098699C>T	uc002itc.2	-	7	1020	c.811G>A	c.(811-813)GGA>AGA	p.G271R	SPAG9_uc002itb.2_Missense_Mutation_p.G257R|SPAG9_uc002itd.2_Missense_Mutation_p.G257R|SPAG9_uc002itf.2_Missense_Mutation_p.G92R|SPAG9_uc002ita.2_Missense_Mutation_p.G114R|SPAG9_uc002ite.2_Missense_Mutation_p.G101R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	271					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTTAGATCCGCCTTGGCTA	0.348													T	49098699	C	T	49098699	3	4	228	1	0	0	0	0	1	0	0	0	14985	661	23	1	3250	1	SPAG9	17	49098699	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2084245	49098699	32096511	836	115855											
COIL	8161	broad.mit.edu	37	chr17	55019433	55019433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtactccactacctcgGctccattttcattgtgataa	6	13	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:55019433G>A	uc002iuu.2	-	6	1641	c.1610C>T	c.(1609-1611)GCC>GTC	p.A537V		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	537						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					CACTACCTCGGCTCCATTTTC	0.438													A	55019433	G	A	55019433	3	1	228	1	0	0	0	0	1	0	0	0	3665	1203	42	2	128	2	COIL	17	55019433	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5920734	55019433	26175777	837	115856											
OR4D1	26689	broad.mit.edu	37	chr17	56233062	56233062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctactgtgatgttccccAagtactgagacttgcctgca	8	12	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:56233062A>G	uc010wno.1	+	1	548	c.548A>G	c.(547-549)CAA>CGA	p.Q183R	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GATGTTCCCCAAGTACTGAGA	0.512													G	56233062	A	G	56233062	3	3	228	1	0	0	0	0	1	0	0	0	11053	130	5	3	550	3	OR4D1	17	56233062	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1213629	56233062	24962148	838	115857											
TEX14	56155	broad.mit.edu	37	chr17	56663303	56663303	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgctgccaatccgtgttttCtgggctcctaatggggggct	13	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:56663303C>G	uc010dcz.1	-	18	3065	c.2947G>C	c.(2947-2949)GAA>CAA	p.E983Q	TEX14_uc002iwr.1_Missense_Mutation_p.E977Q|TEX14_uc002iws.1_Missense_Mutation_p.E977Q|TEX14_uc010dda.1_Missense_Mutation_p.E757Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	983						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCGTGTTTTCTGGGCTCCTA	0.517													G	56663303	C	G	56663303	3	3	228	1	0	0	0	0	1	0	0	0	15775	922	32	5	1610	5	TEX14	17	56663303	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	430241	56663303	24531907	839	115858											
BRIP1	83990	broad.mit.edu	37	chr17	59763509	59763509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgctgaatctgctgccGtacccatttagaaagtccta	9	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:59763509G>A	uc002izk.1	-	19	2734	c.2593C>T	c.(2593-2595)CGG>TGG	p.R865W	BRIP1_uc002izl.1_Missense_Mutation_p.R246W	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	865					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			ovary(1)	1						ATCTGCTGCCGTACCCATTTA	0.348			F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	59763509	G	A	59763509	3	1	228	1	0	0	0	0	1	0	0	0	1514	1144	40	1	1164	1	BRIP1	17	59763509	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3100206	59763509	21431701	840	115859											
ACE	1636	broad.mit.edu	37	chr17	61574527	61574527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcccctcccagacagcGgccgcgtcagcttcctgggc	13	17	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:61574527G>A	uc002jau.1	+	25	3743	c.3721G>A	c.(3721-3723)GGC>AGC	p.G1241S	ACE_uc002jav.1_Missense_Mutation_p.G667S|ACE_uc010ddv.1_Missense_Mutation_p.G468S|ACE_uc010wpj.1_Missense_Mutation_p.G626S|ACE_uc002jaw.1_Intron|ACE_uc010wpk.1_Missense_Mutation_p.G446S	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1241	Extracellular (Potential).				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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	CCCAGACAGCGGCCGCGTCAG	0.542													A	61574527	G	A	61574527	3	1	228	1	0	0	0	0	1	0	0	0	136	1116	39	1	4022	1	ACE	17	61574527	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1811018	61574527	19620683	841	115860											
LRRC37A3	374819	broad.mit.edu	37	chr17	62892219	62892219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacttcatgatgttctggaGgctgacctggggtctcctgc	13	10	3	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:62892219G>T	uc002jey.2	-	3	1688	c.1157C>A	c.(1156-1158)CCT>CAT	p.P386H	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	386	Extracellular (Potential).					integral to membrane					0						ATGTTCTGGAGGCTGACCTGG	0.527													T	62892219	G	T	62892219	3	4	228	1	0	0	0	0	1	0	0	0	8993	1000	35	5	3795	5	LRRC37A3	17	62892219	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1317692	62892219	18302991	842	115861											
AXIN2	8313	broad.mit.edu	37	chr17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-													tgcgggggtgcccgctgttgCccccccacagatggtgccgg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:63532584_63532584GC>G	uc002jfi.3	-	7	2284	c.1995_1995GC>C	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACA	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				-	63532585	C	-	63532585	7	5	228	1	0	1	0	1	0	0	0	0	1237	739	26	0	553	0	AXIN2	17	63532585	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	640366	63532585	17662625	843	115862											
BPTF	2186	broad.mit.edu	37	chr17	65971983	65971985	+	In_Frame_Del	DEL	TAC	TAC	-													aaatttttgataactgtcgtTactacaatccaagtgactcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:65971982_65971984TTAC>T	uc002jgf.3	+	26	8695_8697	c.8634_8636TTAC>T	c.(8632-8637)cgttac>cgTc	p.Y2880del	BPTF_uc002jge.3_In_Frame_Del_p.Y2863del|BPTF_uc021uca.1_In_Frame_Del_p.Y680del|BPTF_uc002jgg.3_In_Frame_Del_p.Y595del|BPTF_uc002jgh.3_In_Frame_Del_p.Y397del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	3006				K -> Q (in Ref. 5; AAH67234).	brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	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)			ATAACTGTCGTTACTACAATCCA	0.389													-	65971985	TAC	-	65971983	7	5	228	1	0	1	0	1	0	0	0	0	1495	1754	61	0	9127	0	BPTF	17	65971983	In_Frame_Del	DEL	TAC	TCGA-D7-A4YV-01A-11D-A25D-08	2439398	65971983	15223227	844	115863											
ABCA8	10351	broad.mit.edu	37	chr17	66925743	66925743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggctgaagactaccaTgaagccagacaaaatgataa	9	7	0	6			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:66925743T>C	uc002jhp.2	-	7	1077	c.898A>G	c.(898-900)ATG>GTG	p.M300V	ABCA8_uc002jhq.2_Missense_Mutation_p.M300V|ABCA8_uc010wqq.1_Missense_Mutation_p.M300V|ABCA8_uc010wqr.1_Missense_Mutation_p.M239V|ABCA8_uc002jhr.2_Missense_Mutation_p.M300V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	300	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					AAGACTACCATGAAGCCAGAC	0.393													C	66925743	T	C	66925743	3	2	228	1	0	0	0	0	1	0	0	0	38	1464	51	3	3975	3	ABCA8	17	66925743	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	953760	66925743	14269467	845	115864											
ABCA9	10350	broad.mit.edu	37	chr17	67041434	67041434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgaatagttcaaatccaaTtcatccatgcttttttcatc	3	9	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:67041434T>A	uc002jhu.2	-	4	491	c.348A>T	c.(346-348)GAA>GAT	p.E116D	ABCA9_uc010dez.2_Missense_Mutation_p.E116D|ABCA9_uc002jhv.2_Missense_Mutation_p.E116D	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	116					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCAAATCCAATTCATCCATGC	0.393													A	67041434	T	A	67041434	3	1	228	1	0	0	0	0	1	0	0	0	39	1490	52	5	4670	5	ABCA9	17	67041434	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	115691	67041434	14153776	846	115865											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					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)					ATAAGCCATATAAAAAAAAGA	0.303													-	67125767	A	-	67125767	7	5	228	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	84333	67125767	14069443	847	115866											
SDK2	54549	broad.mit.edu	37	chr17	71429901	71429901	+	Frame_Shift_Del	DEL	C	C	-													agtgatagctggtcggggcgCccccgaggtctcacatgcta					rs137890595		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:71429900_71429900GC>G	uc010dfm.3	-	9	1283	c.1283_1283GC>C	c.(1282-1284)gcgfs	p.A428fs	SDK2_uc010dfn.2_Frame_Shift_Del_p.A107fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	428	Ig-like C2-type 5.				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						TGGTCGGGGCGCCCCCGAGGT	0.567													-	71429901	C	-	71429901	7	5	228	1	0	1	0	1	0	0	0	0	13969	739	26	0	5380	0	SDK2	17	71429901	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	4304134	71429901	9765309	848	115867											
SLC25A19	60386	broad.mit.edu	37	chr17	73274374	73274374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacctgggggccttcgcTcctatacatggtccccacgg	11	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:73274374T>C	uc002jns.3	-	4	1412	c.502A>G	c.(502-504)AGC>GGC	p.S168G	SLC25A19_uc010dge.2_Missense_Mutation_p.S111G|SLC25A19_uc002jnv.3_Missense_Mutation_p.S168G|SLC25A19_uc002jnu.3_Missense_Mutation_p.S168G|SLC25A19_uc002jnw.3_Missense_Mutation_p.S168G|SLC25A19_uc002jnt.3_Missense_Mutation_p.S168G	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	168	Solcar 2.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	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)			GGGCCTTCGCTCCTATACATG	0.552													C	73274374	T	C	73274374	3	2	228	1	0	0	0	0	1	0	0	0	14481	1551	54	3	472	3	SLC25A19	17	73274374	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1844473	73274374	7920836	849	115868											
EVPL	2125	broad.mit.edu	37	chr17	74019498	74019498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcgtgcagctgcttgaTgctgtcaagaaggtggccgg	15	11	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:74019498T>C	uc002jqi.2	-	4	583	c.355A>G	c.(355-357)ATC>GTC	p.I119V	EVPL_uc010wss.1_Missense_Mutation_p.I119V|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	119	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						AGCTGCTTGATGCTGTCAAGA	0.652													C	74019498	T	C	74019498	3	2	228	1	0	0	0	0	1	0	0	0	5292	1478	51	3	5822	3	EVPL	17	74019498	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	745124	74019498	7175712	850	115869											
CBX8	57332	broad.mit.edu	37	chr17	77768605	77768608	+	Frame_Shift_Del	DEL	GAGG	GAGG	-													gccacagggatcctggcgatGagggagggccttcccccctg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:77768604_77768607TGAGG>T	uc002jxd.2	-	4	1115_1118	c.997_1000CCTCA>A	c.(997-1002)ctcatcfs	p.L333fs		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	333					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	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)			ATCCTGGCGATGAGGGAGGGCCTT	0.681													-	77768608	GAGG	-	77768605	7	5	228	1	0	1	0	1	0	0	0	0	2724	1290	45	0	149	0	CBX8	17	77768605	Frame_Shift_Del	DEL	GAGG	TCGA-D7-A4YV-01A-11D-A25D-08	3749107	77768605	3426605	851	115870											
CARD14	79092	broad.mit.edu	37	chr17	78156499	78156499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggaagaacggggccatcGccttcctggagagcctgaag	16	10	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:78156499G>A	uc002jxw.1	+	3	454	c.259G>A	c.(259-261)GCC>ACC	p.A87T	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.A87T|CARD14_uc010wud.1_5'Flank	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	87	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGGGCCATCGCCTTCCTGGA	0.587													A	78156499	G	A	78156499	3	1	228	1	0	0	0	0	1	0	0	0	2646	1087	38	1	265	1	CARD14	17	78156499	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	387894	78156499	3038711	852	115871											
FASN	2194	broad.mit.edu	37	chr17	80049217	80049217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtggcggggacagccGcgatgtcgttcagcatgctc	17	11	1	0	rs143812680		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:80049217G>A	uc002kdu.2	-	9	1490	c.1373C>T	c.(1372-1374)GCG>GTG	p.A458V	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	458	Acyl and malonyl transferases (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(1)	1	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)	GGGGACAGCCGCGATGTCGTT	0.716													A	80049217	G	A	80049217	3	1	228	1	0	0	0	0	1	0	0	0	5683	1087	38	1	6302	1	FASN	17	80049217	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1892718	80049217	1145993	853	115872											
FOXK2	3607	broad.mit.edu	37	chr17	80559219	80559219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttggcaacacacgcatcCgcatcggcctccctgcccac	8	18	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr17:80559219C>T	uc002kfn.2	+	9	1998	c.1827C>T	c.(1825-1827)TCC>TCT	p.S609S	FOXK2_uc010diu.2_Missense_Mutation_p.P317L|FOXK2_uc002kfo.2_RNA|FOXK2_uc002kfp.2_RNA	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	609					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				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACACGCATCCGCATCGGCCT	0.612													T	80559219	C	T	80559219	2	4	228	1	0	0	0	0	0	0	0	1	6015	639	23	1		1	FOXK2	17	80559219	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	510002	80559219	635991	854	115873											
ENOSF1	55556	broad.mit.edu	37	chr18	677824	677824	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcaatctggaggaactGcagggccttcgcctgtagga	13	10	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:677824G>A	uc002kku.3	-	13	1042	c.967C>T	c.(967-969)CAG>TAG	p.Q323*	ENOSF1_uc002kkt.3_Nonsense_Mutation_p.Q241*|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Nonsense_Mutation_p.Q330*|ENOSF1_uc002kkv.3_Nonsense_Mutation_p.Q310*|ENOSF1_uc002kkw.3_Nonsense_Mutation_p.Q142*|ENOSF1_uc002kkx.3_Nonsense_Mutation_p.Q247*	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	323					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						TGGAGGAACTGCAGGGCCTTC	0.468													A	677824	G	A	677824	4	1	228	1	0	0	0	0	0	1	0	0	5125	1328	46	2	380	2	ENOSF1	18	677824	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		677824	77399424	855	115874											
LAMA1	284217	broad.mit.edu	37	chr18	7049225	7049225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgaaagatcgtcagcgCttggtctgccattgatgagt	14	7	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:7049225C>T	uc002knm.2	-	5	714	c.620G>A	c.(619-621)AGC>AAC	p.S207N	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	207	Laminin N-terminal.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCGTCAGCGCTTGGTCTGCC	0.363													T	7049225	C	T	7049225	3	4	228	1	0	0	0	0	1	0	0	0	8605	797	28	2	8843	2	LAMA1	18	7049225	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6371401	7049225	71028023	856	115875											
PTPRM	5797	broad.mit.edu	37	chr18	8370957	8370957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagttaccctaatagaaAcagaactactggcagaatat	6	7	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:8370957A>G	uc002knn.3	+	22	3588	c.3085A>G	c.(3085-3087)ACA>GCA	p.T1029A	PTPRM_uc010dkv.2_Missense_Mutation_p.T1042A|PTPRM_uc010wzl.1_Missense_Mutation_p.T816A	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1029	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CCTAATAGAAACAGAACTACT	0.333													G	8370957	A	G	8370957	3	3	228	1	0	0	0	0	1	0	0	0	12806	43	2	3	3218	3	PTPRM	18	8370957	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1321732	8370957	69706291	857	115876											
TUBB6	84617	broad.mit.edu	37	chr18	12325604	12325604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgcctggcttcgcgccGctcaccagccgcggcagcca	11	18	2	0	rs140883153		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:12325604G>A	uc002kqw.2	+	4	861	c.816G>A	c.(814-816)CCG>CCA	p.P272P	TUBB6_uc002kqv.2_Silent_p.P200P|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Silent_p.P235P|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	272					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GCTTCGCGCCGCTCACCAGCC	0.682													A	12325604	G	A	12325604	2	1	228	1	0	0	0	0	0	0	0	1	16757	1074	38	1		1	TUBB6	18	12325604	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3954647	12325604	65751644	858	115877											
TUBB6	84617	broad.mit.edu	37	chr18	12325851	12325851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtgaaggtggccgtgtgcGacatcccgccccgcggcctg	15	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:12325851G>A	uc002kqw.2	+	4	1108	c.1063G>A	c.(1063-1065)GAC>AAC	p.D355N	TUBB6_uc002kqv.2_Missense_Mutation_p.D283N|TUBB6_uc002kqx.2_Missense_Mutation_p.D318N|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	355					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GGCCGTGTGCGACATCCCGCC	0.592													A	12325851	G	A	12325851	3	1	228	1	0	0	0	0	1	0	0	0	16757	1058	37	1	1077	1	TUBB6	18	12325851	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	247	12325851	65751397	859	115878											
ZNF519	162655	broad.mit.edu	37	chr18	14105730	14105730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtaaaagctttgccaCgttctttatatttcactgat	6	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:14105730C>T	uc002kst.1	-	3	962	c.809G>A	c.(808-810)CGT>CAT	p.R270H	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCTTTGCCACGTTCTTTATA	0.318													T	14105730	C	T	14105730	3	4	228	1	0	0	0	0	1	0	0	0	17961	536	19	1	817	1	ZNF519	18	14105730	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1779879	14105730	63971518	860	115879											
NPC1	4864	broad.mit.edu	37	chr18	21114441	21114441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggcaagtgcctcttccGcgcgctccacgcggctgcct	13	16	1	0	rs113371321		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:21114441G>A	uc002kum.3	-	23	3834	c.3560C>T	c.(3559-3561)GCG>GTG	p.A1187V	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Missense_Mutation_p.A920V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1187					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			ovary(2)	2	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)					TGCCTCTTCCGCGCGCTCCAC	0.587													A	21114441	G	A	21114441	3	1	228	1	0	0	0	0	1	0	0	0	10570	1087	38	1	288	1	NPC1	18	21114441	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7008711	21114441	56962807	861	115880											
HRH4	59340	broad.mit.edu	37	chr18	22057071	22057071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaggagatctctttctGcatcgacagaagttcctgca	8	11	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:22057071G>A	uc002kvi.2	+	3	818	c.718G>A	c.(718-720)GCA>ACA	p.A240T	HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.A152T	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	240	Cytoplasmic (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ATCTCTTTCTGCATCGACAGA	0.443													A	22057071	G	A	22057071	3	1	228	1	0	0	0	0	1	0	0	0	7358	1319	46	2	728	2	HRH4	18	22057071	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	942630	22057071	56020177	862	115881											
CHST9	83539	broad.mit.edu	37	chr18	24722666	24722666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttacctgtatgttgttcTtcaatccagacttgcaaata	7	8	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:24722666T>G	uc002kwd.2	-	1	306	c.108A>C	c.(106-108)GAA>GAC	p.E36D	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwe.2_Missense_Mutation_p.E36D	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	36	Lumenal (Potential).				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			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TATGTTGTTCTTCAATCCAGA	0.328													G	24722666	T	G	24722666	3	3	228	1	0	0	0	0	1	0	0	0	3411	1606	56	5	1243	5	CHST9	18	24722666	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	2665595	24722666	53354582	863	115882											
C18orf34	374864	broad.mit.edu	37	chr18	30926291	30926291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttcttcagcgtctgccCggtcagtttctagactttta	8	11	5	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:30926291C>T	uc002kxn.2	-	8	684	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	C18orf34_uc010xbr.1_Missense_Mutation_p.R181Q|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.R181Q|C18orf34_uc002kxp.2_Missense_Mutation_p.R181Q	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	181	Potential.									ovary(1)	1						AGCGTCTGCCCGGTCAGTTTC	0.378													T	30926291	C	T	30926291	3	4	228	1	0	0	0	0	1	0	0	0	1902	652	23	1	2121	1	C18orf34	18	30926291	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6203625	30926291	47150957	864	115883											
ASXL3	80816	broad.mit.edu	37	chr18	31319986	31319986	+	Frame_Shift_Del	DEL	A	A	-													tagcgtcctgcaaagaacagAaaaaaaagtgttaccttcac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:31319985_31319985GA>G	uc010dmg.1	+	10	2672	c.2617_2617GA>G	c.(2617-2619)gaafs	p.E873fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.E580fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	873					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						GCAAAGAACAGAAAAAAAAGT	0.378													-	31319986	A	-	31319986	7	5	228	1	0	1	0	1	0	0	0	0	1068	246	9	0	2660	0	ASXL3	18	31319986	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	393695	31319986	46757262	865	115884											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-													gtcatcctcctcccccccgtCccccccaggctccatgatct					rs115080210	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:45567085delC	uc002lda.2	-	1	410	c.394delG	c.(394-396)GACfs	p.D132fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.D181fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.D140fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.D154fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.D132fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.D141fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.D141fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcccccccgtcccccCCAGGC	0.289													-	45567085	C	-	45567085	7	5	228	1	0	1	0	1	0	0	0	0	17552	855	30	0	1473	0	ZBTB7C	18	45567085	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	14247099	45567085	32510163	866	115885											
PIGN	23556	broad.mit.edu	37	chr18	59806256	59806256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtactgcatttgtaaacatgCtctctgctttgaagagatca	8	8	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr18:59806256C>A	uc002lii.3	-	13	1524	c.1076G>T	c.(1075-1077)AGC>ATC	p.S359I	PIGN_uc002lij.3_Missense_Mutation_p.S359I	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	359	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				TGTAAACATGCTCTCTGCTTT	0.343													A	59806256	C	A	59806256	3	1	228	1	0	0	0	0	1	0	0	0	11893	797	28	5	1795	5	PIGN	18	59806256	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	14239171	59806256	18270992	867	115886											
RNF126	55658	broad.mit.edu	37	chr19	651816	651816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccgaaagcaaactgtcCgtagccctgcggcagcgtga	13	12	0	1	rs139851549		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:651816C>T	uc010drs.2	-	4	344	c.238G>A	c.(238-240)GGA>AGA	p.G80R	RNF126_uc002lpi.2_5'UTR	NM_194460	NP_919442	Q9BV68	RN126_HUMAN	ring finger protein 126	80							protein binding|zinc ion binding				0		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)		GCAAACTGTCCGTAGCCCTGC	0.687													T	651816	C	T	651816	3	4	228	1	0	0	0	0	1	0	0	0	13435	661	23	1	721	1	RNF126	19	651816	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		651816	58477167	868	115887											
PTBP1	5725	broad.mit.edu	37	chr19	805125	805125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagccgtgactacacacGcccagacctgccttccgggg	11	16	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:805125G>A	uc002lpr.2	+	8	936	c.830G>A	c.(829-831)CGC>CAC	p.R277H	PTBP1_uc002lpp.2_Missense_Mutation_p.R277H|PTBP1_uc002lpq.2_Missense_Mutation_p.R277H|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R247H	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	277					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			kidney(1)|skin(1)	2		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)		GACTACACACGCCCAGACCTG	0.617													A	805125	G	A	805125	3	1	228	1	0	0	0	0	1	0	0	0	12725	1087	38	1	860	1	PTBP1	19	805125	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	153309	805125	58323858	869	115888											
ELANE	1991	broad.mit.edu	37	chr19	855752	855752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctgccgtcgcagcaaCgtctgcactctcgtgagggg	12	15	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:855752C>T	uc002lqb.2	+	4	593	c.555C>T	c.(553-555)AAC>AAT	p.N185N		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	185	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCGCAGCAACGTCTGCACTC	0.687									Kostmann_syndrome				T	855752	C	T	855752	2	4	228	1	0	0	0	0	0	0	0	1	5048	535	19	1		1	ELANE	19	855752	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	50627	855752	58273231	870	115889											
ABCA7	10347	broad.mit.edu	37	chr19	1063545	1063545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggccccaccccacagacCgctggctcgggcctggcgcg	13	19	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1063545C>T	uc002lqw.3	+	43	5946	c.5715C>T	c.(5713-5715)ACC>ACT	p.T1905T	ABCA7_uc002lqy.2_Silent_p.T358T|ABCA7_uc010dsc.2_RNA|HMHA1_uc010xgd.1_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1905	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		CCCCACAGACCGCTGGCTCGG	0.662													T	1063545	C	T	1063545	2	4	228	1	0	0	0	0	0	0	0	1	37	639	23	1		1	ABCA7	19	1063545	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	207793	1063545	58065438	871	115890											
APC2	10297	broad.mit.edu	37	chr19	1460271	1460271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctggcgctgcgccgctaCgcgggcatgaccctcaccaa	11	17	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1460271C>T	uc002lsr.1	+	11	1603	c.1395C>T	c.(1393-1395)TAC>TAT	p.Y465Y	APC2_uc002lss.1_Silent_p.Y47Y|APC2_uc002lst.1_Silent_p.Y465Y|APC2_uc002lsu.1_Silent_p.Y464Y|uc002lsv.2_5'Flank	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	465					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)|pancreas(1)	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)		TGCGCCGCTACGCGGGCATGA	0.642													T	1460271	C	T	1460271	2	4	228	1	0	0	0	0	0	0	0	1	764	547	19	1		1	APC2	19	1460271	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	396726	1460271	57668712	872	115891											
PCSK4	54760	broad.mit.edu	37	chr19	1483747	1483747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccggcgtccagcagcccGtatccgtagtgatggctcac	12	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1483747G>A	uc002ltb.1	-	11	1355	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PCSK4_uc002lsz.2_Translation_Start_Site|PCSK4_uc002lta.2_Silent_p.Y243Y	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	431					proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		CCAGCAGCCCGTATCCGTAGT	0.557													A	1483747	G	A	1483747	2	1	228	1	0	0	0	0	0	0	0	1	11602	1140	40	1		1	PCSK4	19	1483747	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	23476	1483747	57645236	873	115892											
MBD3	53615	broad.mit.edu	37	chr19	1584646	1584646	+	Frame_Shift_Del	DEL	C	C	-													gatggacgccgtctggcgcaCgggcagcgccgtgttcaggt							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:1584645_1584645AC>A	uc002ltj.3	-	2	324	c.302_302GT>T	c.(301-303)gtgfs	p.V101fs	MBD3_uc002ltk.3_Frame_Shift_Del_p.V69fs|MBD3_uc002ltl.1_Frame_Shift_Del_p.V101fs	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	101					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)		CGTCTGGCGCACGGGCAGCGC	0.697													-	1584646	C	-	1584646	7	5	228	1	0	1	0	1	0	0	0	0	9344	536	19	0	590	0	MBD3	19	1584646	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	100899	1584646	57544337	874	115893											
THOP1	7064	broad.mit.edu	37	chr19	2807737	2807737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggcatgaggacgtgcGgctctacaccgcgagggacg	16	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:2807737G>A	uc002lwj.2	+	8	1339	c.1184G>A	c.(1183-1185)CGG>CAG	p.R395Q	THOP1_uc010xgz.1_Missense_Mutation_p.R274Q|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	395					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				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)		GAGGACGTGCGGCTCTACACC	0.716													A	2807737	G	A	2807737	3	1	228	1	0	0	0	0	1	0	0	0	15868	1116	39	1	1214	1	THOP1	19	2807737	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1223091	2807737	56321246	875	115894											
NCLN	56926	broad.mit.edu	37	chr19	3207443	3207443	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggcattgctgcctacctCggcatggcctacgtggctgt	13	12	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3207443C>T	uc002lxi.2	+	14	1762	c.1608C>T	c.(1606-1608)CTC>CTT	p.L536L	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Silent_p.L180L	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	536	Helical; (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		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													T	3207443	C	T	3207443	2	4	228	1	0	0	0	0	0	0	0	1	10227	871	31	1		1	NCLN	19	3207443	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	399706	3207443	55921540	876	115895											
GIPC3	126326	broad.mit.edu	37	chr19	3590055	3590055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtccaccatggtggagaCgtccaagaagacagcgagcg	14	11	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3590055C>T	uc002lyd.3	+	6	833	c.806C>T	c.(805-807)ACG>ATG	p.T269M		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	269										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGTGGAGACGTCCAAGAAG	0.652													T	3590055	C	T	3590055	3	4	228	1	0	0	0	0	1	0	0	0	6394	536	19	1	828	1	GIPC3	19	3590055	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	382612	3590055	55538928	877	115896											
DAPK3	1613	broad.mit.edu	37	chr19	3964788	3964788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccaggatgaggaccacGtccgtcttgttctcgaagat	11	11	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3964788G>A	uc002lzc.1	-	2	357	c.264C>T	c.(262-264)GAC>GAT	p.D88D	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.D88D	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	88	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			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		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)		TGAGGACCACGTCCGTCTTGT	0.622													A	3964788	G	A	3964788	2	1	228	1	0	0	0	0	0	0	0	1	4237	1136	40	1		1	DAPK3	19	3964788	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	374733	3964788	55164195	878	115897											
DAPK3	1613	broad.mit.edu	37	chr19	3964830	3964830	+	Frame_Shift_Del	DEL	G	G	-													tcgtgcagggtgatgatgttGgggtgccggatctcccgcag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3964829_3964829TG>T	uc002lzc.1	-	1	317	c.223_223CA>A	c.(223-225)aacfs	p.N75fs	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Frame_Shift_Del_p.N75fs	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	75	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	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)		GTGATGATGTTGGGGTGCCGG	0.612													-	3964830	G	-	3964830	7	5	228	1	0	1	0	1	0	0	0	0	4237	1335	47	0	1170	0	DAPK3	19	3964830	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	42	3964830	55164153	879	115898											
EEF2	1938	broad.mit.edu	37	chr19	3982258	3982260	+	In_Frame_Del	DEL	CTT	CTT	-													gctcacctgtcaccccacagCttcttcatcatgtcctctac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:3982257_3982259GCTT>G	uc002lze.3	-	4	859_861	c.776_778AAGC>C	c.(775-780)aagctg>aCtg	p.259_260KL>T		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	259						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)		TCACCCCACAGCTTCTTCATCAT	0.616													-	3982260	CTT	-	3982258	7	5	228	1	0	1	0	1	0	0	0	0	4929	796	28	0	1843	0	EEF2	19	3982258	In_Frame_Del	DEL	CTT	TCGA-D7-A4YV-01A-11D-A25D-08	17428	3982258	55146725	880	115899											
UBXN6	80700	broad.mit.edu	37	chr19	4446914	4446914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttccaggcagttaatgcGctcctgggggtggagatggg	16	10	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:4446914G>A	uc002man.1	-	7	715	c.619C>T	c.(619-621)CGC>TGC	p.R207C	UBXN6_uc010dty.1_Missense_Mutation_p.R111C|UBXN6_uc002mam.1_Missense_Mutation_p.R154C	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	207	PUB.					microtubule organizing center|nucleus	protein binding				0						CAGTTAATGCGCTCCTGGGGG	0.642													A	4446914	G	A	4446914	3	1	228	1	0	0	0	0	1	0	0	0	16914	1087	38	1	726	1	UBXN6	19	4446914	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	464656	4446914	54682069	881	115900											
PTPRS	5802	broad.mit.edu	37	chr19	5220166	5220166	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagatgtcctggatgagCtgcgggaacagagtcatggg	17	7	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:5220166C>A	uc002mbv.2	-	22	3784	c.3550_splice	c.e22-1	p.L1184_splice	PTPRS_uc002mbu.1_Splice_Site_p.L753_splice|PTPRS_uc010xin.1_Splice_Site_p.L753_splice|PTPRS_uc002mbw.2_Splice_Site_p.L1162_splice|PTPRS_uc002mbx.2_Splice_Site_p.L757_splice|PTPRS_uc002mby.2_Splice_Site_p.L753_splice	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCTGGATGAGCTGCGGGAACA	0.637													A	5220166	C	A	5220166	5	1	228	1	0	0	0	0	0	0	1	0	12811	811	28	5	2365	5	PTPRS	19	5220166	Splice_Site	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	773252	5220166	53908817	882	115901											
TNFSF14	8740	broad.mit.edu	37	chr19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcatccagcacacggaCgaccaccttctccccagcct	7	19	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:6665011C>T	uc002mfk.1	-	5	1031	c.649G>A	c.(649-651)GTC>ATC	p.V217I	TNFSF14_uc002mfj.1_Missense_Mutation_p.V181I	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	217	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						AGCACACGGACGACCACCTTC	0.622													T	6665011	C	T	6665011	3	4	228	1	0	0	0	0	1	0	0	0	16304	536	19	1	77	1	TNFSF14	19	6665011	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1444845	6665011	52463972	883	115902											
GPR108	56927	broad.mit.edu	37	chr19	6732382	6732382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgatgaagaggagggcGcccttcagcctgaaggagca	16	8	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:6732382G>A	uc002mfp.2	-	12	1063	c.1017C>T	c.(1015-1017)GGC>GGT	p.G339G	GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_Silent_p.G10G|GPR108_uc002mfo.3_Silent_p.G97G|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	339	Helical; Name=3; (Potential).					integral to membrane					0						AGAGGAGGGCGCCCTTCAGCC	0.627													A	6732382	G	A	6732382	2	1	228	1	0	0	0	0	0	0	0	1	6624	1074	38	1		1	GPR108	19	6732382	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	67371	6732382	52396601	884	115903											
TIMM44	10469	broad.mit.edu	37	chr19	7999073	7999073	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttggctgcttcctccacGccctccttgattttccggcc	8	17	1	1	rs149061456	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:7999073G>T	uc002miz.2	-	5	446	c.444C>A	c.(442-444)GGC>GGA	p.G148G	TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	148					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						CTTCCTCCACGCCCTCCTTGA	0.632													T	7999073	G	T	7999073	2	4	228	1	0	0	0	0	0	0	0	1	15909	1074	38	5		5	TIMM44	19	7999073	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1266691	7999073	51129910	885	115904											
ELAVL1	1994	broad.mit.edu	37	chr19	8056648	8056648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgatcaaattcgttctccCgatgtcacccctgcagtctt	7	14	4	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:8056648C>T	uc002mjb.2	-	2	219	c.52G>A	c.(52-54)GGG>AGG	p.G18R		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	18					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TTCGTTCTCCCGATGTCACCC	0.423													T	8056648	C	T	8056648	3	4	228	1	0	0	0	0	1	0	0	0	5049	652	23	1	948	1	ELAVL1	19	8056648	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	57575	8056648	51072335	886	115905											
OR2Z1	284383	broad.mit.edu	37	chr19	8841803	8841803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcctgtacttatgagacGccaggtatgtctgctgatga	11	8	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:8841803G>A	uc010xkg.1	+	1	413	c.413G>A	c.(412-414)CGC>CAC	p.R138H		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						CTTATGAGACGCCAGGTATGT	0.557													A	8841803	G	A	8841803	3	1	228	1	0	0	0	0	1	0	0	0	11036	1087	38	1	415	1	OR2Z1	19	8841803	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	785155	8841803	50287180	887	115906											
OLFM2	93145	broad.mit.edu	37	chr19	9965006	9965006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggttgtggaagggcacGtccgtgtactcgtaactgga	14	8	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:9965006G>A	uc002mmp.2	-	6	1249	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	OLFM2_uc002mmo.2_Silent_p.D329D	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	407	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						GGAAGGGCACGTCCGTGTACT	0.562													A	9965006	G	A	9965006	2	1	228	1	0	0	0	0	0	0	0	1	10853	1136	40	1		1	OLFM2	19	9965006	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1123203	9965006	49163977	888	115907											
OLFM2	93145	broad.mit.edu	37	chr19	9965191	9965191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtccagccggctgaccaCgatgttgcccgcgttctggt	14	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:9965191C>T	uc002mmp.2	-	6	1064	c.1036G>A	c.(1036-1038)GTG>ATG	p.V346M	OLFM2_uc002mmo.2_Missense_Mutation_p.V268M	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	346	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						CGGCTGACCACGATGTTGCCC	0.652													T	9965191	C	T	9965191	3	4	228	1	0	0	0	0	1	0	0	0	10853	536	19	1	332	1	OLFM2	19	9965191	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	185	9965191	49163792	889	115908											
COL5A3	50509	broad.mit.edu	37	chr19	10087919	10087919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcaccgcgtctcctttatCgcctttactccccttgtgtc	5	17	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:10087919C>T	uc002mmq.1	-	44	3360	c.3274G>A	c.(3274-3276)GAT>AAT	p.D1092N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1092	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TCTCCTTTATCGCCTTTACTC	0.607													T	10087919	C	T	10087919	3	4	228	1	0	0	0	0	1	0	0	0	3698	884	31	1	2059	1	COL5A3	19	10087919	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	122728	10087919	49041064	890	115909											
DNM2	1785	broad.mit.edu	37	chr19	10940910	10940910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcctgttcccgtgggggCagcagcctccttctcggcgc	13	15	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:10940910C>T	uc002mps.1	+	20	2563	c.2399C>T	c.(2398-2400)GCA>GTA	p.A800V	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.A800V|DNM2_uc002mpv.1_Missense_Mutation_p.A796V|DNM2_uc002mpu.1_Missense_Mutation_p.A796V|DNM2_uc010dxl.1_Missense_Mutation_p.A800V|DNM2_uc002mpw.2_Missense_Mutation_p.A529V|DNM2_uc002mpx.1_Missense_Mutation_p.A156V	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	800	Pro-rich.				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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCGTGGGGGCAGCAGCCTCC	0.697													T	10940910	C	T	10940910	3	4	228	1	0	0	0	0	1	0	0	0	4672	710	25	2	2620	2	DNM2	19	10940910	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	852991	10940910	48188073	891	115910											
LYL1	4066	broad.mit.edu	37	chr19	13211729	13211729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggagagttgcagcagcGggggccgcagagtgcccagc	20	10	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:13211729G>T	uc002mwi.2	-	2	618	c.257C>A	c.(256-258)CCG>CAG	p.P86Q		NM_005583	NP_005574	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	86					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			TTGCAGCAGCGGGGGCCGCAG	0.682			T	TRB@	T-ALL								T	13211729	G	T	13211729	3	4	228	1	0	0	0	0	1	0	0	0	9106	1116	39	5	597	5	LYL1	19	13211729	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2270819	13211729	45917254	892	115911											
DDX39	10212	broad.mit.edu	37	chr19	14521142	14521142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcctgcacatcccgccgCatgtctaggtggggagggca	13	13	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14521142C>T	uc010xnp.1	-	6	663	c.618G>A	c.(616-618)ATG>ATA	p.M206I	DDX39_uc002myo.2_Missense_Mutation_p.M206I|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.M206I	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	206	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						CATCCCGCCGCATGTCTAGGT	0.632													T	14521142	C	T	14521142	3	4	228	1	0	0	0	0	1	0	0	0	4357	710	25	2	689	2	DDX39	19	14521142	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1309413	14521142	44607841	893	115912											
PKN1	5585	broad.mit.edu	37	chr19	14561788	14561788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagacttggggagctgccCgccgaccaccccaaggggcg	16	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14561788C>T	uc002myp.2	+	6	1005	c.837C>T	c.(835-837)CCC>CCT	p.P279P	PKN1_uc002myq.2_Silent_p.P285P	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	279	REM 3.				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			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						GGGAGCTGCCCGCCGACCACC	0.682													T	14561788	C	T	14561788	2	4	228	1	0	0	0	0	0	0	0	1	11979	639	23	1		1	PKN1	19	14561788	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	40646	14561788	44567195	894	115913											
TECR	9524	broad.mit.edu	37	chr19	14675085	14675085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggcactatgcctttgCgcaacatcttcaaggtgaga	9	12	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14675085C>T	uc002mza.2	+	7	602	c.475C>T	c.(475-477)CGC>TGC	p.R159C	TECR_uc002mzb.2_Missense_Mutation_p.R174C|TECR_uc010xns.1_Missense_Mutation_p.R4C|TECR_uc002mzc.2_Missense_Mutation_p.R4C|TECR_uc002mzd.2_Missense_Mutation_p.R159C|TECR_uc002mze.2_5'Flank|TECR_uc002mzf.1_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	159					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0						TATGCCTTTGCGCAACATCTT	0.343													T	14675085	C	T	14675085	3	4	228	1	0	0	0	0	1	0	0	0	15742	768	27	1	501	1	TECR	19	14675085	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	113297	14675085	44453898	895	115914											
EMR2	30817	broad.mit.edu	37	chr19	14876168	14876168	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcctggcttgtagtcTctgcccaggtcctggacttt	11	13	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:14876168T>G	uc002mzp.1	-	10	1326	c.870A>C	c.(868-870)AGA>AGC	p.R290S	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.R290S|EMR2_uc002mzo.1_Missense_Mutation_p.R290S|EMR2_uc002mzq.1_Missense_Mutation_p.R241S|EMR2_uc002mzr.1_Missense_Mutation_p.R241S|EMR2_uc002mzs.1_Missense_Mutation_p.R148S|EMR2_uc002mzt.1_Missense_Mutation_p.R197S|EMR2_uc002mzu.1_Missense_Mutation_p.R197S|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	290	Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GCTTGTAGTCTCTGCCCAGGT	0.597													G	14876168	T	G	14876168	3	3	228	1	0	0	0	0	1	0	0	0	5105	1548	54	5	1649	5	EMR2	19	14876168	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	201083	14876168	44252815	896	115915											
OR10H1	26539	broad.mit.edu	37	chr19	15917904	15917904	+	Frame_Shift_Del	DEL	T	T	-													atttctcctacatcattacaTttttttctgggtagagttta							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:15917903_15917903AT>A	uc002nbq.2	-	0	1034	c.945_945AT>T	c.(943-945)aatfs	p.N315fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	315					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						ACATCATTACATTTTTTTCTG	0.438													-	15917904	T	-	15917904	7	5	228	1	0	1	0	1	0	0	0	0	10905	1493	52	0	16	0	OR10H1	19	15917904	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	1041736	15917904	43211079	897	115916											
CALR3	125972	broad.mit.edu	37	chr19	16591434	16591434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttcataccttggtttcGccccaggtggccttgccaaa	10	13	1	0	rs143913852		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:16591434G>A	uc002ned.2	-	8	1065	c.1002C>T	c.(1000-1002)GGC>GGT	p.G334G	MED26_uc002nee.2_RNA	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	334	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						CCTTGGTTTCGCCCCAGGTGG	0.318													A	16591434	G	A	16591434	2	1	228	1	0	0	0	0	0	0	0	1	2593	1074	38	1		1	CALR3	19	16591434	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	673530	16591434	42537549	898	115917											
MYO9B	4650	broad.mit.edu	37	chr19	17316104	17316104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccacaagaagtgcgtgCacaagattcagagccactgc	10	13	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:17316104C>T	uc010eak.2	+	31	5175	c.5023C>T	c.(5023-5025)CAC>TAC	p.H1675Y	MYO9B_uc002nfi.2_Missense_Mutation_p.H1675Y|MYO9B_uc002nfj.1_Missense_Mutation_p.H1675Y|MYO9B_uc002nfl.1_Intron|MYO9B_uc002nfm.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1675	Tail.|Phorbol-ester/DAG-type.				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(1)	1						GAAGTGCGTGCACAAGATTCA	0.587													T	17316104	C	T	17316104	3	4	228	1	0	0	0	0	1	0	0	0	10085	710	25	2	5141	2	MYO9B	19	17316104	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	724670	17316104	41812879	899	115918											
GLT25D1	79709	broad.mit.edu	37	chr19	17679366	17679366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctatccgcaagcgagacCgccggggctgctttgcagtt	12	14	0	1	rs142308296		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:17679366C>T	uc002nhc.1	+	5	685	c.673C>T	c.(673-675)CGC>TGC	p.R225C	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	225					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						CAAGCGAGACCGCCGGGGCTG	0.617													T	17679366	C	T	17679366	3	4	228	1	0	0	0	0	1	0	0	0	6466	652	23	1	691	1	GLT25D1	19	17679366	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	363262	17679366	41449617	900	115919											
PIK3R2	5296	broad.mit.edu	37	chr19	18273319	18273319	+	Splice_Site	DEL	G	G	-													gtacacgctgaccctcaggtGggggcctgtccctgcaagga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:18273318_18273318TG>T	uc002nia.1	+	9	1621	c.1109_splice	c.e9+2	p.R370_splice	PIK3R2_uc002nib.1_Splice_Site|PIK3R2_uc010ebi.1_Splice_Site	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	370	SH2 1.				T cell costimulation|T cell receptor signaling pathway|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	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						GACCCTCAGGTGGGGGCCTGT	0.592													-	18273319	G	-	18273319	8	5	228	1	0	1	0	1	0	0	1	0	11919	1363	47	0		0	PIK3R2	19	18273319	Splice_Site	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	593953	18273319	40855664	901	115920											
KIAA0892	23383	broad.mit.edu	37	chr19	19453672	19453672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcagctggagaagctcAagagtaagtcaggtgctcgg	14	8	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:19453672A>G	uc002nmk.3	+	9	1009	c.970A>G	c.(970-972)AAG>GAG	p.K324E	KIAA0892_uc002nml.3_5'Flank|KIAA0892_uc010ecd.2_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	hypothetical protein LOC23383 precursor	324					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding				0						GGAGAAGCTCAAGAGTAAGTC	0.622											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	19453672	A	G	19453672	3	3	228	1	0	0	0	0	1	0	0	0	8196	131	5	3	1004	3	KIAA0892	19	19453672	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1180353	19453672	39675311	902	115921											
CILP2	148113	broad.mit.edu	37	chr19	19655136	19655136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcgctttccgcagagcCgacggcaaaccctactcggg	12	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:19655136C>T	uc002nmv.3	+	8	1867	c.1782C>T	c.(1780-1782)GCC>GCT	p.A594A	CILP2_uc002nmw.3_Silent_p.A600A	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	594						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TCCGCAGAGCCGACGGCAAAC	0.672													T	19655136	C	T	19655136	2	4	228	1	0	0	0	0	0	0	0	1	3430	639	23	1		1	CILP2	19	19655136	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	201464	19655136	39473847	903	115922											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	228	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	2346890	22002026	37126957	904	115923											
ZNF681	148213	broad.mit.edu	37	chr19	23926579	23926579	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgccacatttttcacaTtggtagggtttctctccagt	8	10	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:23926579T>G	uc002nrk.3	-	4	1915	c.1773A>C	c.(1771-1773)CAA>CAC	p.Q591H	ZNF681_uc002nrl.3_Missense_Mutation_p.Q522H|ZNF681_uc002nrj.3_Missense_Mutation_p.Q522H	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	591	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTTTCACATTGGTAGGGTT	0.383													G	23926579	T	G	23926579	3	3	228	1	0	0	0	0	1	0	0	0	18085	1490	52	5	168	5	ZNF681	19	23926579	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1924553	23926579	35202404	905	115924											
ATP4A	495	broad.mit.edu	37	chr19	36045880	36045880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccgaggggcaggggcaCgctgacggtgatgtagatga	18	9	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:36045880C>T	uc002oal.1	-	16	2454	c.2425G>A	c.(2425-2427)GTG>ATG	p.V809M	ATP4A_uc010eee.1_Translation_Start_Site	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	809	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	GGCAGGGGCACGCTGACGGTG	0.542													T	36045880	C	T	36045880	3	4	228	1	0	0	0	0	1	0	0	0	1145	536	19	1	710	1	ATP4A	19	36045880	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	12119301	36045880	23083103	906	115925											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	228	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	164884	36210764	22918219	907	115926											
LRFN3	79414	broad.mit.edu	37	chr19	36431206	36431206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaggaggagtttgtctgCgagccgcccgtggtgactca	17	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:36431206C>T	uc002oco.2	+	2	1331	c.879C>T	c.(877-879)TGC>TGT	p.C293C		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	293	LRRCT.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			AGTTTGTCTGCGAGCCGCCCG	0.741													T	36431206	C	T	36431206	2	4	228	1	0	0	0	0	0	0	0	1	8939	776	27	1		1	LRFN3	19	36431206	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	220442	36431206	22697777	908	115927											
ZNF568	374900	broad.mit.edu	37	chr19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctcattagacatgagCgaattcatgctggagagaaa	10	7	2	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:37440779C>T	uc002ofc.2	+	7	1239	c.724C>T	c.(724-726)CGA>TGA	p.R242*	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Nonsense_Mutation_p.R166*|ZNF568_uc010efe.2_Nonsense_Mutation_p.R166*|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378													T	37440779	C	T	37440779	4	4	228	1	0	0	0	0	0	1	0	0	17996	760	27	1	742	1	ZNF568	19	37440779	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1009573	37440779	21688204	909	115928											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655373	38655373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtatgggcctttgtggCgggggtcgcgaggccgctgg	21	8	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38655373C>T	uc002ohk.2	+	15	4544	c.4035C>T	c.(4033-4035)GGC>GGT	p.G1345G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1345					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTTGTGGCGGGGGTCGCG	0.692													T	38655373	C	T	38655373	2	4	228	1	0	0	0	0	0	0	0	1	14331	755	27	1		1	SIPA1L3	19	38655373	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1214594	38655373	20473610	910	115929											
GGN	199720	broad.mit.edu	37	chr19	38877282	38877282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgtctggccctggttgCggggcccagcctggctttct	15	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38877282C>T	uc002oij.1	-	3	755	c.620G>A	c.(619-621)CGC>CAC	p.R207H	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R124H	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	207	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCTGGTTGCGGGGCCCAGC	0.701													T	38877282	C	T	38877282	3	4	228	1	0	0	0	0	1	0	0	0	6358	768	27	1	1346	1	GGN	19	38877282	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	221909	38877282	20251701	911	115930											
RYR1	6261	broad.mit.edu	37	chr19	38948159	38948160	+	Frame_Shift_Ins	INS	-	-	TG													ctggacgtgctatgctccctINSgtgtgtgtgtaatggtgtgg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38948158_38948159C>CTG	uc002oit.3	+	16	1943_1944	c.1813_1814C>CTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	GCTATGCTCCCTGTGTGTGTGT	0.535													TG	38948160	-	TG	38948159	7	5	228	1	0	1	1	0	0	0	0	0	13768	1580	55	0	1880	0	RYR1	19	38948159	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08	70877	38948159	20180824	912	115931											
RYR1	6261	broad.mit.edu	37	chr19	38951153	38951153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtatcgacgggaggggccCcgggggcctcacctggtggg	20	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38951153C>T	uc002oit.2	+	20	2629	c.2499C>T	c.(2497-2499)CCC>CCT	p.P833P	RYR1_uc002oiu.2_Silent_p.P833P	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	833	Cytoplasmic.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAGGGGCCCCGGGGGCCTC	0.642													T	38951153	C	T	38951153	2	4	228	1	0	0	0	0	0	0	0	1	13768	610	22	4		4	RYR1	19	38951153	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2994	38951153	20177830	913	115932											
RYR1	6261	broad.mit.edu	37	chr19	38956958	38956958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaagccaccaagcgcaGcaaccgggacagcctctgcc	12	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:38956958G>A	uc002oit.2	+	24	3228	c.3098G>A	c.(3097-3099)AGC>AAC	p.S1033N	RYR1_uc002oiu.2_Missense_Mutation_p.S1033N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1033	6 X approximate repeats.|2.|Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCAAGCGCAGCAACCGGGAC	0.632													A	38956958	G	A	38956958	3	1	228	1	0	0	0	0	1	0	0	0	13768	971	34	2	3192	2	RYR1	19	38956958	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5805	38956958	20172025	914	115933											
FCGBP	8857	broad.mit.edu	37	chr19	40421158	40421158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcctccacccgcacggcGcgcgtgtagctcacagtctg	13	17	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:40421158G>A	uc002omp.3	-	5	2771	c.2763C>T	c.(2761-2763)CGC>CGT	p.R921R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	921	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			CCCGCACGGCGCGCGTGTAGC	0.711													A	40421158	G	A	40421158	2	1	228	1	0	0	0	0	0	0	0	1	5778	1074	38	1		1	FCGBP	19	40421158	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1464200	40421158	18707825	915	115934											
MAP3K10	4294	broad.mit.edu	37	chr19	40718777	40718777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagtgggacatggagcCgcggtgggcccccaaagaag	18	9	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:40718777C>T	uc002ona.2	+	7	1906	c.1618C>T	c.(1618-1620)CGC>TGC	p.R540C	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	540					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			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GACATGGAGCCGCGGTGGGCC	0.542													T	40718777	C	T	40718777	3	4	228	1	0	0	0	0	1	0	0	0	9244	652	23	1	1644	1	MAP3K10	19	40718777	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	297619	40718777	18410206	916	115935											
BCKDHA	593	broad.mit.edu	37	chr19	41916544	41916544	+	Splice_Site	DEL	C	C	-													ctctgctctcttccccagcaCccccccaggcagcagcagca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					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						CTTCCCCAGCACCCCCCCAGG	0.612													-	41916544	C	-	41916544	8	5	228	1	0	1	0	1	0	0	1	0	1359	506	18	0	117	0	BCKDHA	19	41916544	Splice_Site	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	1197767	41916544	17212439	917	115936											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406062	42406062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgacagaggcggcccaCgtgcgcatgctgcgggtgct	17	12	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:42406062C>T	uc002orx.2	+	15	1402	c.1293C>T	c.(1291-1293)CAC>CAT	p.H431H	ARHGEF1_uc002ory.2_Silent_p.H398H|ARHGEF1_uc002orz.2_Silent_p.H269H|ARHGEF1_uc002osa.2_Silent_p.H446H|ARHGEF1_uc002osb.2_Silent_p.H413H|ARHGEF1_uc002osc.2_Silent_p.H185H|ARHGEF1_uc002osd.2_Silent_p.H90H|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	431	DH.				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			ovary(3)|large_intestine(1)	4		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)		AGGCGGCCCACGTGCGCATGC	0.622													T	42406062	C	T	42406062	2	4	228	1	0	0	0	0	0	0	0	1	893	535	19	1		1	ARHGEF1	19	42406062	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	489518	42406062	16722921	918	115937											
ZNF574	64763	broad.mit.edu	37	chr19	42583217	42583217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcacctccgggccacaccCaccaaggctcctgcccctgt	8	21	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:42583217C>T	uc002osm.3	+	2	628	c.459C>T	c.(457-459)CCC>CCT	p.P153P	ZNF574_uc002osk.3_Silent_p.P243P	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GGGCCACACCCACCAAGGCTC	0.637													T	42583217	C	T	42583217	2	4	228	1	0	0	0	0	0	0	0	1	18003	581	21	4		4	ZNF574	19	42583217	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	177155	42583217	16545766	919	115938											
IRGC	56269	broad.mit.edu	37	chr19	44223329	44223329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctgcgggaggccggcGtggctgaccctcgcatcttc	16	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:44223329G>A	uc002oxh.2	+	2	766	c.619G>A	c.(619-621)GTG>ATG	p.V207M		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	207						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				GGAGGCCGGCGTGGCTGACCC	0.711													A	44223329	G	A	44223329	3	1	228	1	0	0	0	0	1	0	0	0	7838	1145	40	1	621	1	IRGC	19	44223329	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1640112	44223329	14905654	920	115939											
ZNF221	7638	broad.mit.edu	37	chr19	44470166	44470166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcaacagaaaccttaccGttgtaatgaatgtaaacagt	8	8	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:44470166G>A	uc002oxx.2	+	6	840	c.512G>A	c.(511-513)CGT>CAT	p.R171H	ZNF221_uc010ejb.1_Missense_Mutation_p.R171H|ZNF221_uc010xws.1_Missense_Mutation_p.R171H	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	171	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				AAACCTTACCGTTGTAATGAA	0.418													A	44470166	G	A	44470166	3	1	228	1	0	0	0	0	1	0	0	0	17772	1145	40	1	526	1	ZNF221	19	44470166	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	246837	44470166	14658817	921	115940											
CEACAM20	125931	broad.mit.edu	37	chr19	45029181	45029181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggggtcccaaacacaGgcagaacaacatcctcactt	8	14	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45029181G>T	uc010ejn.1	-	2	165	c.149C>A	c.(148-150)CCT>CAT	p.P50H	CEACAM20_uc010ejo.1_Missense_Mutation_p.P50H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P50H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P50H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	50	Extracellular (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				CCCAAACACAGGCAGAACAAC	0.557													T	45029181	G	T	45029181	3	4	228	1	0	0	0	0	1	0	0	0	3191	1000	35	5	1686	5	CEACAM20	19	45029181	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	559015	45029181	14099802	922	115941											
CEACAM16	388551	broad.mit.edu	37	chr19	45207422	45207422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacggtggggccctgcccGtcgctctccgcctgggcctg	14	17	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45207422G>A	uc010xxd.1	+	4	723	c.517G>A	c.(517-519)GTC>ATC	p.V173I	CEACAM16_uc002ozq.2_Missense_Mutation_p.V232I	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	173										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GGCCCTGCCCGTCGCTCTCCG	0.706													A	45207422	G	A	45207422	3	1	228	1	0	0	0	0	1	0	0	0	3188	1145	40	1	527	1	CEACAM16	19	45207422	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	178241	45207422	13921561	923	115942											
CEACAM16	388551	broad.mit.edu	37	chr19	45209019	45209019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcaggccctaaagaacgGccaagaccacctcaacatca	9	15	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45209019G>A	uc010xxd.1	+	5	1027	c.821G>A	c.(820-822)GGC>GAC	p.G274D	CEACAM16_uc002ozq.2_Missense_Mutation_p.G333D	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	274										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTAAAGAACGGCCAAGACCAC	0.567													A	45209019	G	A	45209019	3	1	228	1	0	0	0	0	1	0	0	0	3188	1203	42	2	835	2	CEACAM16	19	45209019	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1597	45209019	13919964	924	115943											
APOE	348	broad.mit.edu	37	chr19	45412333	45412333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggaggtgcgcgccaaGctggaggagcaggcccagca	19	11	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45412333G>A	uc002pab.2	+	4	863	c.780G>A	c.(778-780)AAG>AAA	p.K260K		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	260					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCGCGCCAAGCTGGAGGAGC	0.711													A	45412333	G	A	45412333	2	1	228	1	0	0	0	0	0	0	0	1	802	962	34	2		2	APOE	19	45412333	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	203314	45412333	13716650	925	115944											
NKPD1	284353	broad.mit.edu	37	chr19	45655517	45655517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgaaggggaagtcggcGcccaggaagcgctcgaagag	18	9	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45655517G>A	uc010xxi.1	-	4	2178	c.2178C>T	c.(2176-2178)GGC>GGT	p.G726G		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGAAGTCGGCGCCCAGGAAGC	0.672													A	45655517	G	A	45655517	2	1	228	1	0	0	0	0	0	0	0	1	10446	1074	38	1		1	NKPD1	19	45655517	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	243184	45655517	13473466	926	115945											
RTN2	6253	broad.mit.edu	37	chr19	45997939	45997939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaggtcttccagagggCgctcggatggaggcgcggtg	18	11	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:45997939C>T	uc002pcb.2	-	3	632	c.404G>A	c.(403-405)CGC>CAC	p.R135H	RTN2_uc002pcc.2_Missense_Mutation_p.R135H|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	135						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCCAGAGGGCGCTCGGATGG	0.687													T	45997939	C	T	45997939	3	4	228	1	0	0	0	0	1	0	0	0	13726	768	27	1	1269	1	RTN2	19	45997939	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	342422	45997939	13131044	927	115946											
FBXO46	23403	broad.mit.edu	37	chr19	46216144	46216144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggtccaccttgctcggCggacacaaagactacaggcg	13	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:46216144C>T	uc002pcy.2	-	2	735	c.610G>A	c.(610-612)GCC>ACC	p.A204T	FBXO46_uc002pcz.2_Missense_Mutation_p.A204T	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	204							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		CCTTGCTCGGCGGACACAAAG	0.682													T	46216144	C	T	46216144	3	4	228	1	0	0	0	0	1	0	0	0	5755	768	27	1	1205	1	FBXO46	19	46216144	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	218205	46216144	12912839	928	115947											
PRKD2	25865	broad.mit.edu	37	chr19	47177820	47177820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagcccctgcatgtcgTggtcctgtggtggacaggcc	14	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:47177820T>C	uc002pfh.2	-	19	2939	c.2597A>G	c.(2596-2598)CAC>CGC	p.H866R	PRKD2_uc002pfd.2_Missense_Mutation_p.H240R|PRKD2_uc010eks.2_Missense_Mutation_p.H269R|PRKD2_uc010ekt.2_Missense_Mutation_p.H133R|PRKD2_uc002pfe.2_Missense_Mutation_p.H396R|PRKD2_uc002pff.2_Missense_Mutation_p.H386R|PRKD2_uc002pfg.2_Missense_Mutation_p.H709R|PRKD2_uc002pfi.2_Missense_Mutation_p.H866R|PRKD2_uc002pfj.2_Missense_Mutation_p.H866R|PRKD2_uc010xye.1_Missense_Mutation_p.H876R|PRKD2_uc002pfk.2_Missense_Mutation_p.H709R	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	866					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			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		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)		CTGCATGTCGTGGTCCTGTGG	0.652													C	47177820	T	C	47177820	3	2	228	1	0	0	0	0	1	0	0	0	12519	1696	59	3	43	3	PRKD2	19	47177820	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	961676	47177820	11951163	929	115948											
EHD2	30846	broad.mit.edu	37	chr19	48220236	48220236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacccggacaagcccttcCgcaaactcaaccctttcgga	8	16	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:48220236C>T	uc002phj.3	+	2	617	c.367C>T	c.(367-369)CGC>TGC	p.R123C	EHD2_uc010xyu.1_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	123					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		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)		CAAGCCCTTCCGCAAACTCAA	0.542													T	48220236	C	T	48220236	3	4	228	1	0	0	0	0	1	0	0	0	4978	652	23	1	369	1	EHD2	19	48220236	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1042416	48220236	10908747	930	115949											
FUT1	2523	broad.mit.edu	37	chr19	49253904	49253904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggacgccgacaaaggtgCgcgggcggtcccctgtgcgg	18	13	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:49253904C>T	uc002pkk.2	-	4	1610	c.635G>A	c.(634-636)CGC>CAC	p.R212H		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	212	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GACAAAGGTGCGCGGGCGGTC	0.677													T	49253904	C	T	49253904	3	4	228	1	0	0	0	0	1	0	0	0	6101	768	27	1	466	1	FUT1	19	49253904	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1033668	49253904	9875079	931	115950											
FGF21	26291	broad.mit.edu	37	chr19	49260233	49260233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttattcaaatcttgggaGtcaagacatccaggttcctg	10	8	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:49260233G>A	uc002pkn.1	+	3	858	c.286G>A	c.(286-288)GTC>ATC	p.V96I	FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.V96I	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21 precursor	96					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AATCTTGGGAGTCAAGACATC	0.567													A	49260233	G	A	49260233	3	1	228	1	0	0	0	0	1	0	0	0	5850	1029	36	4	292	4	FGF21	19	49260233	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6329	49260233	9868750	932	115951											
PRR12	57479	broad.mit.edu	37	chr19	50099902	50099902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcccccacctcccacGgcccagtctacccagcccac	5	26	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:50099902G>A	uc002poo.3	+	4	2310	c.2310G>A	c.(2308-2310)ACG>ACA	p.T770T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CACCTCCCACGGCCCAGTCTA	0.711													A	50099902	G	A	50099902	2	1	228	1	0	0	0	0	0	0	0	1	12584	1103	39	1		1	PRR12	19	50099902	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	839669	50099902	9029081	933	115952											
SHANK1	50944	broad.mit.edu	37	chr19	51169601	51169601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcttggagctgagttcActgatgatgctggcttttac	12	7	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:51169601A>G	uc002psx.1	-	22	5635	c.5616T>C	c.(5614-5616)AGT>AGC	p.S1872S	SHANK1_uc002psw.1_Silent_p.S1256S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1872					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTGAGTTCACTGATGATGC	0.697													G	51169601	A	G	51169601	2	3	228	1	0	0	0	0	0	0	0	1	14264	156	6	3		3	SHANK1	19	51169601	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1069699	51169601	7959382	934	115953											
ACPT	93650	broad.mit.edu	37	chr19	51296990	51296990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccccagatgtcctgcGgactcttgcccagatctcgg	11	16	2	2	rs141753566	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:51296990G>A	uc002pta.1	+	7	695	c.695G>A	c.(694-696)CGG>CAG	p.R232Q		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	232	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GATGTCCTGCGGACTCTTGCC	0.637													A	51296990	G	A	51296990	3	1	228	1	0	0	0	0	1	0	0	0	168	1116	39	1	721	1	ACPT	19	51296990	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	127389	51296990	7831993	935	115954											
SIGLEC12	89858	broad.mit.edu	37	chr19	52002870	52002870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaggtgatcgtggggggCgtcccctgttcacaggccca	14	13	1	1	rs148225737		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:52002870C>T	uc002pwx.1	-	3	965	c.909G>A	c.(907-909)ACG>ACA	p.T303T	SIGLEC12_uc002pww.1_Silent_p.T185T|SIGLEC12_uc010eoy.1_Silent_p.T30T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	303	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCGTGGGGGGCGTCCCCTGTT	0.662													T	52002870	C	T	52002870	2	4	228	1	0	0	0	0	0	0	0	1	14308	755	27	1		1	SIGLEC12	19	52002870	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	705880	52002870	7126113	936	115955											
FPR2	2358	broad.mit.edu	37	chr19	52271988	52271988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggctacactgttctgcGgatcctcccattggtggtgc	12	12	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:52271988G>A	uc002pxr.2	+	2	122	c.77G>A	c.(76-78)CGG>CAG	p.R26Q	FPR2_uc002pxs.3_Missense_Mutation_p.R26Q|FPR2_uc010epf.2_Missense_Mutation_p.R26Q	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	26	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						ACTGTTCTGCGGATCCTCCCA	0.532													A	52271988	G	A	52271988	3	1	228	1	0	0	0	0	1	0	0	0	6039	1116	39	1	79	1	FPR2	19	52271988	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	269118	52271988	6856995	937	115956											
ZNF610	162963	broad.mit.edu	37	chr19	52869924	52869924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagaccttacaagtgtaaTgcatgtggcaaggtcttcaa	11	7	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:52869924T>C	uc002pyx.3	+	6	1699	c.1293T>C	c.(1291-1293)AAT>AAC	p.N431N	ZNF610_uc002pyy.3_Silent_p.N431N|ZNF610_uc002pyz.3_Silent_p.N388N|ZNF610_uc002pza.2_Silent_p.N431N	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	431	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ACAAGTGTAATGCATGTGGCA	0.398													C	52869924	T	C	52869924	2	2	228	1	0	0	0	0	0	0	0	1	18033	1461	51	3		3	ZNF610	19	52869924	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	597936	52869924	6259059	938	115957											
NLRP12	91662	broad.mit.edu	37	chr19	54312988	54312988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgctccatcttggagGcaatgttgctgaccacgatc	10	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:54312988G>A	uc002qch.3	-	3	2145	c.1925C>T	c.(1924-1926)GCC>GTC	p.A642V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A642V|NLRP12_uc002qcj.3_Missense_Mutation_p.A642V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A642V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	642					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			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATCTTGGAGGCAATGTTGCT	0.587													A	54312988	G	A	54312988	3	1	228	1	0	0	0	0	1	0	0	0	10474	1203	42	2	1388	2	NLRP12	19	54312988	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1443064	54312988	4815995	939	115958											
ISOC2	79763	broad.mit.edu	37	chr19	55966693	55966693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctaggaggtccagggtcGtgttctgtgggtagagagag	19	5	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:55966693G>A	uc002qlb.2	-	4	527	c.353C>T	c.(352-354)ACG>ATG	p.T118M	ISOC2_uc002qla.2_Missense_Mutation_p.T134M|ISOC2_uc002qlc.2_Missense_Mutation_p.T48M	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	118					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	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)		GTCCAGGGTCGTGTTCTGTGG	0.632													A	55966693	G	A	55966693	3	1	228	1	0	0	0	0	1	0	0	0	7863	1145	40	1	276	1	ISOC2	19	55966693	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1653705	55966693	3162290	940	115959											
ZNF628	89887	broad.mit.edu	37	chr19	55995151	55995151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcacaggaggtgaccaCggtccagctccagcccgtgg	14	15	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:55995151C>T	uc002qld.2	+	3	3144	c.2579C>T	c.(2578-2580)ACG>ATG	p.T860M	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	860	4.|4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GAGGTGACCACGGTCCAGCTC	0.652													T	55995151	C	T	55995151	3	4	228	1	0	0	0	0	1	0	0	0	18049	536	19	1	2581	1	ZNF628	19	55995151	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	28458	55995151	3133832	941	115960											
U2AF2	11338	broad.mit.edu	37	chr19	56173906	56173906	+	Frame_Shift_Del	DEL	G	G	-													ttcaacgcccagatgcgcctGggggggctgacccaggcccc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:56173905_56173905TG>T	uc002qlu.3	+	5	1579	c.524_524TG>T	c.(523-525)ctgfs	p.L175fs	U2AF2_uc002qlt.3_Frame_Shift_Del_p.L175fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	175	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide 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)		CAGATGCGCCTGGGGGGGCTG	0.602													-	56173906	G	-	56173906	7	5	228	1	0	1	0	1	0	0	0	0	16820	1335	47	0	547	0	U2AF2	19	56173906	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	178755	56173906	2955077	942	115961											
ZNF460	10794	broad.mit.edu	37	chr19	57802724	57802724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttacacggcaccagcGggttcacagtggagagaagc	13	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:57802724G>A	uc002qog.2	+	3	1137	c.815G>A	c.(814-816)CGG>CAG	p.R272Q	ZNF460_uc010ygv.1_Missense_Mutation_p.R231Q	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	272	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGCACCAGCGGGTTCACAGT	0.512													A	57802724	G	A	57802724	3	1	228	1	0	0	0	0	1	0	0	0	17921	1116	39	1	825	1	ZNF460	19	57802724	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1628818	57802724	1326259	943	115962											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565161	58565161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggccctttccgtgcccCgagtgtggcaaggtcttcct	13	13	1	0	rs148203449	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58565161C>T	uc002qrc.1	+	6	1216	c.969C>T	c.(967-969)CCC>CCT	p.P323P		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	323	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TTCCGTGCCCCGAGTGTGGCA	0.627													T	58565161	C	T	58565161	2	4	228	1	0	0	0	0	0	0	0	1	18223	639	23	1		1	ZSCAN1	19	58565161	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	762437	58565161	563822	944	115963											
ZNF8	7554	broad.mit.edu	37	chr19	58806666	58806666	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggagcagccccatgggCgaagccggcggcgtgaacaa	17	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58806666C>T	uc002qry.1	+	4	1622	c.1492C>T	c.(1492-1494)CGA>TGA	p.R498*	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		GCCCCATGGGCGAAGCCGGCG	0.557													T	58806666	C	T	58806666	4	4	228	1	0	0	0	0	0	1	0	0	18164	760	27	1	1506	1	ZNF8	19	58806666	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	241505	58806666	322317	945	115964											
RPS5	6193	broad.mit.edu	37	chr19	58904472	58904472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaactccatgatgatgcacGgccgcaacaacggcaagaag	10	12	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58904472G>A	uc002qsn.2	+	3	310	c.238G>A	c.(238-240)GGC>AGC	p.G80S	RPS5_uc002qso.2_Missense_Mutation_p.G80S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	80					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GATGATGCACGGCCGCAACAA	0.577													A	58904472	G	A	58904472	3	1	228	1	0	0	0	0	1	0	0	0	13648	1116	39	1	244	1	RPS5	19	58904472	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	97806	58904472	224511	946	115965											
ZNF132	7691	broad.mit.edu	37	chr19	58945448	58945448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcaaaaggccgttctcCggtgtgaactttctggtgct	11	11	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:58945448C>T	uc002qst.3	-	3	1764	c.1363G>A	c.(1363-1365)GGA>AGA	p.G455R		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	455						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		GGCCGTTCTCCGGTGTGAACT	0.473													T	58945448	C	T	58945448	3	4	228	1	0	0	0	0	1	0	0	0	17719	661	23	1	761	1	ZNF132	19	58945448	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	40976	58945448	183535	947	115966											
MZF1	7593	broad.mit.edu	37	chr19	59082434	59082434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcggggctgcctggcCgctgcccctgcacacgggcc	13	20	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr19:59082434C>A	uc002qto.2	-	2	884	c.323G>T	c.(322-324)CGG>CTG	p.R108L	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.R108L|MZF1_uc010euu.1_Missense_Mutation_p.R149L	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	108	SCAN box.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		GCTGCCTGGCCGCTGCCCCTG	0.687													A	59082434	C	A	59082434	3	1	228	1	0	0	0	0	1	0	0	0	10108	652	23	5	1901	5	MZF1	19	59082434	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	136986	59082434	46549	948	115967											
RBCK1	10616	broad.mit.edu	37	chr20	408048	408048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctaccattgcaagacccCagattgcaagggatggtgct	11	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:408048C>A	uc002wdp.3	+	9	1814	c.1121C>A	c.(1120-1122)CCA>CAA	p.P374Q	RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.P332Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.P204Q	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	374	IBR-type 1.				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				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGCAAGACCCCAGATTGCAAG	0.537													A	408048	C	A	408048	3	1	228	1	0	0	0	0	1	0	0	0	13107	594	21	5	1174	5	RBCK1	20	408048	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08		408048	62617472	949	115968											
CHGB	1114	broad.mit.edu	37	chr20	5903414	5903414	+	Frame_Shift_Del	DEL	A	A	-													agaaagcaggcttcagctatAaaaaaagaggagttagtggc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:5903413_5903413TA>T	uc002wmg.3	+	3	929	c.623_623TA>T	c.(622-624)atafs	p.I208fs	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	208						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCTTCAGCTATAAAAAAAGAG	0.488													-	5903414	A	-	5903414	7	5	228	1	0	1	0	1	0	0	0	0	3339	352	13	0	638	0	CHGB	20	5903414	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	5495366	5903414	57122106	950	115969											
CD93	22918	broad.mit.edu	37	chr20	23066072	23066072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgacacagagggggcccGagctgccccagtcgaacaca	14	14	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23066072G>A	uc002wsv.2	-	1	906	c.758C>T	c.(757-759)TCG>TTG	p.S253L		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	253	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAGGGGGCCCGAGCTGCCCCA	0.602													A	23066072	G	A	23066072	3	1	228	1	0	0	0	0	1	0	0	0	3047	1059	37	1	1208	1	CD93	20	23066072	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	17162658	23066072	39959448	951	115970											
GZF1	64412	broad.mit.edu	37	chr20	23350249	23350249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctactgctgtgaccagtgCggcaagcagttcacccagct	10	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23350249C>T	uc010gdb.2	+	6	1830	c.1656C>T	c.(1654-1656)TGC>TGT	p.C552C	GZF1_uc002wsy.2_Silent_p.C552C|GZF1_uc010zsq.1_Silent_p.C76C|GZF1_uc010zsr.1_Silent_p.C61C|GZF1_uc002wsz.2_Silent_p.C552C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	552	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTGACCAGTGCGGCAAGCAGT	0.602													T	23350249	C	T	23350249	2	4	228	1	0	0	0	0	0	0	0	1	6914	776	27	1		1	GZF1	20	23350249	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	284177	23350249	39675271	952	115971											
CST4	1472	broad.mit.edu	37	chr20	23667826	23667826	+	Frame_Shift_Del	DEL	C	C	-													tacgtcgaagaagtaattcaCccccccaaaggtctgcacac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23667825_23667825AC>A	uc002wto.1	-	1	298	c.242_242GT>T	c.(241-243)gtgfs	p.V81fs		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAA	0.552													-	23667826	C	-	23667826	7	5	228	1	0	1	0	1	0	0	0	0	3974	507	18	0	192	0	CST4	20	23667826	Frame_Shift_Del	DEL	C	TCGA-D7-A4YV-01A-11D-A25D-08	317577	23667826	39357694	953	115972											
CST5	1473	broad.mit.edu	37	chr20	23858244	23858244	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattgaagtagtagttcacCccacccacgatctacacgcg	7	14	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:23858244C>A	uc002wtr.1	-	2	310	c.243G>T	c.(241-243)GGG>GGT	p.G81G		NM_001900	NP_001891	P28325	CYTD_HUMAN	cystatin D precursor	81						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0						AGTAGTTCACCCCACCCACGA	0.532													A	23858244	C	A	23858244	2	1	228	1	0	0	0	0	0	0	0	1	3975	610	22	5		5	CST5	20	23858244	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	190418	23858244	39167276	954	115973											
TMEM90B	79953	broad.mit.edu	37	chr20	24524045	24524045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcgctcctggggggaCggtgtggccgccgactgctg	19	12	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:24524045C>T	uc002wtw.1	+	2	945	c.312C>T	c.(310-312)GAC>GAT	p.D104D		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	104	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						CCTGGGGGGACGGTGTGGCCG	0.632													T	24524045	C	T	24524045	2	4	228	1	0	0	0	0	0	0	0	1	16216	535	19	1		1	TMEM90B	20	24524045	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	665801	24524045	38501475	955	115974											
ACSS1	84532	broad.mit.edu	37	chr20	25011536	25011536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcaacacggtccccacGgtggactccatgcctcttca	10	15	2	0	rs112767555		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:25011536G>A	uc002wub.2	-	3	1368	c.490C>T	c.(490-492)CGT>TGT	p.R164C	ACSS1_uc002wuc.2_Missense_Mutation_p.R164C|ACSS1_uc010gdc.2_Missense_Mutation_p.R164C|ACSS1_uc002wua.2_Missense_Mutation_p.R81C	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	164					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGTCCCCACGGTGGACTCCA	0.602													A	25011536	G	A	25011536	3	1	228	1	0	0	0	0	1	0	0	0	188	1116	39	1	1627	1	ACSS1	20	25011536	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	487491	25011536	38013984	956	115975											
ZNF341	84905	broad.mit.edu	37	chr20	32354681	32354681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccagcccctgccgggtgCgccacagccccaggccttgt	14	18	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:32354681C>T	uc002wzy.2	+	9	1267	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	ZNF341_uc002wzx.2_Missense_Mutation_p.A409V|ZNF341_uc010geq.2_Missense_Mutation_p.A326V|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTGCCGGGTGCGCCACAGCCC	0.632													T	32354681	C	T	32354681	3	4	228	1	0	0	0	0	1	0	0	0	17854	768	27	1	1260	1	ZNF341	20	32354681	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7343145	32354681	30670839	957	115976											
KIAA0406	9675	broad.mit.edu	37	chr20	36641193	36641193	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggatttcaggactctcAtcatttactagtcccactaa	6	11	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:36641193A>G	uc002xhl.2	-	3	1235	c.1026T>C	c.(1024-1026)GAT>GAC	p.D342D	KIAA0406_uc002xhm.2_Silent_p.D342D	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	342							binding				0		Myeloproliferative disorder(115;0.00874)				CAGGACTCTCATCATTTACTA	0.458													G	36641193	A	G	36641193	2	3	228	1	0	0	0	0	0	0	0	1	8173	214	8	3		3	KIAA0406	20	36641193	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	4286512	36641193	26384327	958	115977											
DHX35	60625	broad.mit.edu	37	chr20	37634810	37634810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatagtggccaccaatgtgGcagaaacctctatcacaatc	8	11	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:37634810G>A	uc002xjh.2	+	12	1044	c.1033G>A	c.(1033-1035)GCA>ACA	p.A345T	DHX35_uc010zwa.1_Missense_Mutation_p.A190T|DHX35_uc010zwb.1_Missense_Mutation_p.A190T|DHX35_uc010zwc.1_Missense_Mutation_p.A314T	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	345	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CACCAATGTGGCAGAAACCTC	0.408													A	37634810	G	A	37634810	3	1	228	1	0	0	0	0	1	0	0	0	4508	1203	42	2	1079	2	DHX35	20	37634810	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	993617	37634810	25390710	959	115978											
TOP1	7150	broad.mit.edu	37	chr20	39725955	39725955	+	Frame_Shift_Del	DEL	A	A	-													ctaccaaggaaatatttaggAaaaatttctttaaagactgg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39725955delA	uc002xjl.2	+	10	1072	c.826delA	c.(826-828)AAAfs	p.K276fs	TOP1_uc010gge.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	276					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(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AATATTTAGGAAAAATTTCTT	0.353			T	NUP98	AML*								-	39725955	A	-	39725955	7	5	228	1	0	1	0	1	0	0	0	0	16360	247	9	0	864	0	TOP1	20	39725955	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	2091145	39725955	23299565	960	115979											
ZHX3	23051	broad.mit.edu	37	chr20	39831389	39831389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttgattttaatggggCtgactttgcgctctgccaag	12	8	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39831389C>T	uc002xjs.1	-	3	2546	c.2168G>A	c.(2167-2169)AGC>AAC	p.S723N	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.S723N|ZHX3_uc002xjt.1_Missense_Mutation_p.S723N|ZHX3_uc002xju.1_Missense_Mutation_p.S723N|ZHX3_uc002xjv.1_Missense_Mutation_p.S723N|ZHX3_uc002xjw.1_Missense_Mutation_p.S723N|ZHX3_uc010ggg.1_Missense_Mutation_p.S723N	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	723					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TTTAATGGGGCTGACTTTGCG	0.532													T	39831389	C	T	39831389	3	4	228	1	0	0	0	0	1	0	0	0	17674	797	28	2	710	2	ZHX3	20	39831389	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	105434	39831389	23194131	961	115980											
LPIN3	64900	broad.mit.edu	37	chr20	39980542	39980542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggactctgagaatgcagCgctttacttcccccaaaggt	9	13	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39980542C>T	uc002xjx.2	+	8	1275	c.1184C>T	c.(1183-1185)GCG>GTG	p.A395V	LPIN3_uc010ggh.2_Missense_Mutation_p.A396V|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	395					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				GAGAATGCAGCGCTTTACTTC	0.597													T	39980542	C	T	39980542	3	4	228	1	0	0	0	0	1	0	0	0	8920	768	27	1	1210	1	LPIN3	20	39980542	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	149153	39980542	23044978	962	115981											
EMILIN3	90187	broad.mit.edu	37	chr20	39989982	39989982	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taggtcatcccggaggcgggCaatgtcctgcgtgtgctggg	17	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:39989982C>G	uc002xjy.1	-	4	2451	c.2227G>C	c.(2227-2229)GCC>CCC	p.A743P		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	743	Potential.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CGGAGGCGGGCAATGTCCTGC	0.657													G	39989982	C	G	39989982	3	3	228	1	0	0	0	0	1	0	0	0	5095	710	25	5	77	5	EMILIN3	20	39989982	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9440	39989982	23035538	963	115982											
JPH2	57158	broad.mit.edu	37	chr20	42789012	42789012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgtactccgtagccatGgcgcatgccgttggtgaact	13	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:42789012G>T	uc002xli.1	-	2	1288	c.415C>A	c.(415-417)CAT>AAT	p.H139N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	139	Gly-rich.|Cytoplasmic (Potential).|MORN 6.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGTAGCCATGGCGCATGCCG	0.701													T	42789012	G	T	42789012	3	4	228	1	0	0	0	0	1	0	0	0	7961	1348	47	5	1691	5	JPH2	20	42789012	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2799030	42789012	20236508	964	115983											
GDAP1L1	78997	broad.mit.edu	37	chr20	42907672	42907672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggagccaccctgcaccGcctcaagttcctgggactgt	11	16	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:42907672G>A	uc002xlq.2	+	6	903	c.836G>A	c.(835-837)CGC>CAC	p.R279H	GDAP1L1_uc010zwl.1_Missense_Mutation_p.R298H|GDAP1L1_uc010zwm.1_Missense_Mutation_p.R221H|GDAP1L1_uc010zwn.1_Missense_Mutation_p.R87H	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	ganglioside-induced differentiation-associated	279	GST C-terminal.									large_intestine(1)	1		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCTGCACCGCCTCAAGTTC	0.587													A	42907672	G	A	42907672	3	1	228	1	0	0	0	0	1	0	0	0	6308	1087	38	1	858	1	GDAP1L1	20	42907672	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	118660	42907672	20117848	965	115984											
RIMS4	140730	broad.mit.edu	37	chr20	43386791	43386791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagtcactgaactgggCgtccgacgccaggcaaactc	12	13	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43386791C>T	uc002xms.2	-	3	271	c.271G>A	c.(271-273)GCC>ACC	p.A91T	RIMS4_uc010ggu.2_Missense_Mutation_p.A92T	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	91					exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CTGAACTGGGCGTCCGACGCC	0.572													T	43386791	C	T	43386791	3	4	228	1	0	0	0	0	1	0	0	0	13370	768	27	1	554	1	RIMS4	20	43386791	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	479119	43386791	19638729	966	115985											
SEMG2	6407	broad.mit.edu	37	chr20	43850595	43850595	+	Missense_Mutation	SNP	A	A	C													gtggaagtcaacaactgctcAattataaacaagaaggcaga							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43850595A>C	uc010ggz.2	+	2	379	c.322A>C	c.(322-324)AAT>CAT	p.N108H	SEMG2_uc002xnk.2_Missense_Mutation_p.N108H|SEMG2_uc002xnl.2_Missense_Mutation_p.N108H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	108	Repeat-rich region.|3-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACAACTGCTCAATTATAAACA	0.383													C	43850595	A	C	43850595	3	2	228	1	0	0	0	0	1	0	0	0	14045	130	5	5	328	5	SEMG2	20	43850595	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	463804	43850595	19174925	967	115986	545	2									
SEMG2	6407	broad.mit.edu	37	chr20	43850598	43850598	+	Missense_Mutation	SNP	T	T	A													gaagtcaacaactgctcaatTataaacaagaaggcagagac							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43850598T>A	uc010ggz.2	+	2	382	c.325T>A	c.(325-327)TAT>AAT	p.Y109N	SEMG2_uc002xnk.2_Missense_Mutation_p.Y109N|SEMG2_uc002xnl.2_Missense_Mutation_p.Y109N	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	109	Repeat-rich region.|3-1.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACTGCTCAATTATAAACAAGA	0.388													A	43850598	T	A	43850598	3	1	228	1	0	0	0	0	1	0	0	0	14045	1754	61	5	331	5	SEMG2	20	43850598	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	3	43850598	19174922	968	115987	545	2									
SDC4	6385	broad.mit.edu	37	chr20	43964515	43964515	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggctccggagaagtatcGgccttctaggaggtcctggg	16	9	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:43964515G>A	uc002xnu.2	-	2	146	c.106C>T	c.(106-108)CGA>TGA	p.R36*	SDC4_uc010zws.1_Intron	NM_002999	NP_002990	P31431	SDC4_HUMAN	syndecan 4 precursor	36	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity				0		Myeloproliferative disorder(115;0.0122)				GAGAAGTATCGGCCTTCTAGG	0.552													A	43964515	G	A	43964515	4	1	228	1	0	0	0	0	0	1	0	0	13954	1124	39	1	506	1	SDC4	20	43964515	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	113917	43964515	19061005	969	115988											
PCIF1	63935	broad.mit.edu	37	chr20	44569201	44569201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaacaagcccagaaagCggcagctctcggaagagcag	13	11	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:44569201C>T	uc002xqs.2	+	5	651	c.337C>T	c.(337-339)CGG>TGG	p.R113W		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	113	Nuclear localization signal (Potential).					nucleus				skin(1)	1						GCCCAGAAAGCGGCAGCTCTC	0.642													T	44569201	C	T	44569201	3	4	228	1	0	0	0	0	1	0	0	0	11580	759	27	1	347	1	PCIF1	20	44569201	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	604686	44569201	18456319	970	115989											
SPATA2	9825	broad.mit.edu	37	chr20	48522841	48522841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagcgaaggggatgggCggatgatctcatccttgagg	16	8	2	2	rs143910300	byFrequency	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:48522841C>T	uc010gie.2	-	3	1228	c.878G>A	c.(877-879)CGC>CAC	p.R293H	SPATA2_uc002xuw.2_Missense_Mutation_p.R293H|SPATA2_uc010zyn.1_Missense_Mutation_p.R156H	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	293					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGGGATGGGCGGATGATCTC	0.667													T	48522841	C	T	48522841	3	4	228	1	0	0	0	0	1	0	0	0	15004	768	27	1	688	1	SPATA2	20	48522841	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3953640	48522841	14502679	971	115990											
PCK1	5105	broad.mit.edu	37	chr20	56137185	56137185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaagcaagacggttatcGtcacccaagagcaaagagac	10	10	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:56137185G>A	uc002xyn.3	+	3	446	c.283G>A	c.(283-285)GTC>ATC	p.V95I	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	95					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			skin(1)	1	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)			GACGGTTATCGTCACCCAAGA	0.552													A	56137185	G	A	56137185	3	1	228	1	0	0	0	0	1	0	0	0	11581	1145	40	1	289	1	PCK1	20	56137185	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7614344	56137185	6888335	972	115991											
SLMO2	51012	broad.mit.edu	37	chr20	57610086	57610086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgcaaacgctgctgcTgccattggagtccttatggt	10	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:57610086T>C	uc002yam.2	-	6	677	c.561A>G	c.(559-561)GCA>GCG	p.A187A	ATP5E_uc002yal.2_5'Flank|SLMO2_uc010zzv.1_Silent_p.A157A	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2	187										skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			ACGCTGCTGCTGCCATTGGAG	0.408													C	57610086	T	C	57610086	2	2	228	1	0	0	0	0	0	0	0	1	14751	1567	55	3		3	SLMO2	20	57610086	Silent	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1472901	57610086	5415434	973	115992											
EDN3	1908	broad.mit.edu	37	chr20	57876698	57876698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaccaccgatccaggCgctgcacgtgcttcacctac	9	17	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:57876698C>T	uc002yap.2	+	2	655	c.286C>T	c.(286-288)CGC>TGC	p.R96C	EDN3_uc002yao.1_Missense_Mutation_p.R96C|EDN3_uc002yaq.2_Missense_Mutation_p.R96C|EDN3_uc002yar.2_Missense_Mutation_p.R96C|EDN3_uc002yas.2_Missense_Mutation_p.R96C	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	96					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			skin(1)	1	all_lung(29;0.0115)					CCGATCCAGGCGCTGCACGTG	0.617													T	57876698	C	T	57876698	3	4	228	1	0	0	0	0	1	0	0	0	4918	768	27	1	292	1	EDN3	20	57876698	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	266612	57876698	5148822	974	115993											
LAMA5	3911	broad.mit.edu	37	chr20	60887584	60887584	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggtggggaagagccgtcGcaggctgtggggaagcgggg	22	8	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:60887584G>A	uc002ycq.2	-	68	9299	c.9232C>T	c.(9232-9234)CGA>TGA	p.R3078*		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3078	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGAGCCGTCGCAGGCTGTGG	0.677													A	60887584	G	A	60887584	4	1	228	1	0	0	0	0	0	1	0	0	8609	1095	38	1	1907	1	LAMA5	20	60887584	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3010886	60887584	2137936	975	115994											
YTHDF1	54915	broad.mit.edu	37	chr20	61833646	61833646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcctcaccttgcgcAccacctcctcctcctcctgg	5	23	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:61833646A>G	uc002yeh.2	-	4	1940	c.1646T>C	c.(1645-1647)GTG>GCG	p.V549A	YTHDF1_uc011aaq.1_Missense_Mutation_p.V499A	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	549										ovary(2)	2						CACCTTGCGCACCACCTCCTC	0.567													G	61833646	A	G	61833646	3	3	228	1	0	0	0	0	1	0	0	0	17495	159	6	3	41	3	YTHDF1	20	61833646	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	946062	61833646	1191874	976	115995											
PRIC285	85441	broad.mit.edu	37	chr20	62197486	62197486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaggacggtgttgagcaCgcgggcgtcggtgaagaact	18	8	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr20:62197486C>T	uc002yfm.2	-	9	3581	c.2689G>A	c.(2689-2691)GTG>ATG	p.V897M	PRIC285_uc002yfl.1_Missense_Mutation_p.V328M	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	897					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGTTGAGCACGCGGGCGTCG	0.697													T	62197486	C	T	62197486	3	4	228	1	0	0	0	0	1	0	0	0	12485	536	19	1	5308	1	PRIC285	20	62197486	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	363840	62197486	828034	977	115996											
NRIP1	8204	broad.mit.edu	37	chr21	16338967	16338967	+	Frame_Shift_Del	DEL	T	T	-													gtactccctgagggctggtgTttttttctacattttcttca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:16338966_16338966GT>G	uc021whl.1	-	0	1548	c.1548_1548AC>C	c.(1546-1548)aacfs	p.N516fs	NRIP1_uc002yjx.2_Frame_Shift_Del_p.N516fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	516	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)		GAGGGCTGGTGTTTTTTTCTA	0.383													-	16338967	T	-	16338967	7	5	228	1	0	1	0	1	0	0	0	0	10652	1725	60	0	1933	0	NRIP1	21	16338967	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08		16338967	31790928	978	115997											
BACH1	571	broad.mit.edu	37	chr21	30715090	30715090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgcggaacagtgtcGtcagagtggtgggatctcag	17	8	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:30715090G>A	uc002ynj.2	+	5	2262	c.2147G>A	c.(2146-2148)CGT>CAT	p.R716H	BACH1_uc002ynk.2_Missense_Mutation_p.R716H|BACH1_uc002ynl.2_Intron	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	716						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						GAACAGTGTCGTCAGAGTGGT	0.507													A	30715090	G	A	30715090	3	1	228	1	0	0	0	0	1	0	0	0	1283	1145	40	1	2161	1	BACH1	21	30715090	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	14376123	30715090	17414805	979	115998											
TIAM1	7074	broad.mit.edu	37	chr21	32559328	32559328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacttacctttcttggaaGctaaaccggtttccttcaca	6	12	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:32559328G>T	uc002yow.1	-	15	3123	c.2651C>A	c.(2650-2652)GCT>GAT	p.A884D	TIAM1_uc011adk.1_Missense_Mutation_p.A884D|TIAM1_uc011adl.1_Missense_Mutation_p.A824D	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	884	PDZ.				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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TTTCTTGGAAGCTAAACCGGT	0.433													T	32559328	G	T	32559328	3	4	228	1	0	0	0	0	1	0	0	0	15887	971	34	5	2184	5	TIAM1	21	32559328	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1844238	32559328	15570567	980	115999											
SFRS15	57466	broad.mit.edu	37	chr21	33103990	33103990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttacctcctggttgaaggCgttgacggcgtccatgttcg	12	12	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:33103990C>T	uc002ypd.2	-	1	442	c.16G>A	c.(16-18)GCC>ACC	p.A6T	SFRS15_uc002ype.2_Missense_Mutation_p.A6T|SFRS15_uc010glu.2_Missense_Mutation_p.A6T|SFRS15_uc002ypg.2_Missense_Mutation_p.A6T	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	6	CID.					nucleus	nucleotide binding|RNA binding				0						TGGTTGAAGGCGTTGACGGCG	0.716													T	33103990	C	T	33103990	3	4	228	1	0	0	0	0	1	0	0	0	14171	768	27	1	3507	1	SFRS15	21	33103990	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	544662	33103990	15025905	981	116000											
DOPEY2	9980	broad.mit.edu	37	chr21	37617999	37617999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacgactctcggcgggtcCtctatgccttctcggtgctg	11	15	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:37617999C>T	uc002yvg.2	+	19	3800	c.3721C>T	c.(3721-3723)CTC>TTC	p.L1241F	DOPEY2_uc011aeb.1_Missense_Mutation_p.L1190F|DOPEY2_uc002yvh.2_Missense_Mutation_p.L92F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1241					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TCGGCGGGTCCTCTATGCCTT	0.587													T	37617999	C	T	37617999	3	4	228	1	0	0	0	0	1	0	0	0	4708	681	24	4	3791	4	DOPEY2	21	37617999	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4514009	37617999	10511896	982	116001											
MORC3	23515	broad.mit.edu	37	chr21	37747468	37747468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgatctcttcgagttaaCgtaggacaactgctggctat	9	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:37747468C>T	uc002yvi.2	+	17	2770	c.2694C>T	c.(2692-2694)AAC>AAT	p.N898N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	898					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			ovary(2)	2						TTCGAGTTAACGTAGGACAAC	0.358													T	37747468	C	T	37747468	2	4	228	1	0	0	0	0	0	0	0	1	9703	535	19	1		1	MORC3	21	37747468	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	129469	37747468	10382427	983	116002											
DSCAM	1826	broad.mit.edu	37	chr21	42080531	42080531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggacgtggcggatcccGgggacatcgtagatctcctc	16	11	1	1	rs147347671	by1000genomes	TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:42080531G>A	uc002yyq.1	-	2	662	c.210C>T	c.(208-210)CCC>CCT	p.P70P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	70	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCGGATCCCGGGGACATCGT	0.567													A	42080531	G	A	42080531	2	1	228	1	0	0	0	0	0	0	0	1	4768	1103	39	1		1	DSCAM	21	42080531	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	4333063	42080531	6049364	984	116003											
PRDM15	63977	broad.mit.edu	37	chr21	43242266	43242266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccgccatacctggcacCgcttgcagctgtacttgtga	9	14	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:43242266C>T	uc002yzq.1	-	22	3098	c.2987G>A	c.(2986-2988)CGG>CAG	p.R996Q	PRDM15_uc002yzo.2_Missense_Mutation_p.R667Q|PRDM15_uc002yzp.2_Missense_Mutation_p.R687Q|PRDM15_uc002yzr.1_Missense_Mutation_p.R687Q	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	996	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACCTGGCACCGCTTGCAGCT	0.587													T	43242266	C	T	43242266	3	4	228	1	0	0	0	0	1	0	0	0	12456	652	23	1	1576	1	PRDM15	21	43242266	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1161735	43242266	4887629	985	116004											
ITGB2	3689	broad.mit.edu	37	chr21	46321619	46321619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgttcacgaacggcaGcacggtcttgtccacgaagg	14	11	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:46321619G>A	uc002zgd.2	-	5	573	c.529C>T	c.(529-531)CTG>TTG	p.L177L	ITGB2_uc002zge.2_Silent_p.L177L|ITGB2_uc002zgf.3_Silent_p.L177L|ITGB2_uc011afl.1_Silent_p.L99L|ITGB2_uc010gpw.2_Silent_p.L120L|ITGB2_uc002zgg.2_Silent_p.L177L	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	177	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACGAACGGCAGCACGGTCTTG	0.637													A	46321619	G	A	46321619	2	1	228	1	0	0	0	0	0	0	0	1	7894	962	34	2		2	ITGB2	21	46321619	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3079353	46321619	1808276	986	116005											
PCNT	5116	broad.mit.edu	37	chr21	47851682	47851682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcacgagcggctcctgacCgagcagctgagccagaggac	15	14	0	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr21:47851682C>T	uc002zji.3	+	38	8411	c.8304C>T	c.(8302-8304)ACC>ACT	p.T2768T	PCNT_uc002zjj.2_Silent_p.T2650T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2768	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGCTCCTGACCGAGCAGCTGA	0.647													T	47851682	C	T	47851682	2	4	228	1	0	0	0	0	0	0	0	1	11590	639	23	1		1	PCNT	21	47851682	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1530063	47851682	278213	987	116006											
CECR6	27439	broad.mit.edu	37	chr22	17601118	17601119	+	Frame_Shift_Ins	INS	-	-	C													ccgcggccgcccccaggccgINSccccccgcgccgccggcgcc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:17601118_17601119insC	uc002zmb.2	-	1	1095_1096	c.899_900insG	c.(898-900)GGCfs	p.G300fs	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	300	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		cccccaggccgccccccgcgcc	0.485													C	17601119	-	C	17601118	7	5	228	1	0	1	1	0	0	0	0	0	3208	1074	38	0	840	0	CECR6	22	17601118	Frame_Shift_Ins	INS	-	TCGA-D7-A4YV-01A-11D-A25D-08		17601118	33703448	988	116007											
CYTSA	23384	broad.mit.edu	37	chr22	24717327	24717327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctactagagaaagattaCgtgaacgtacccgattaaac	8	8	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:24717327C>T	uc002zzw.2	+	5	686	c.379C>T	c.(379-381)CGT>TGT	p.R127C	CYTSA_uc002zzv.3_Missense_Mutation_p.R127C|CYTSA_uc011ajq.1_Missense_Mutation_p.R127C	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	127					cell cycle|cell division						0						AGAAAGATTACGTGAACGTAC	0.438													T	24717327	C	T	24717327	3	4	228	1	0	0	0	0	1	0	0	0	4209	536	19	1	389	1	CYTSA	22	24717327	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	7116209	24717327	26587239	989	116008											
LRP5L	91355	broad.mit.edu	37	chr22	25747816	25747816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaccgggttgtgtggggcGtgaagaagcacaggtggctg	18	7	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:25747816G>A	uc003abs.2	-	4	3174	c.709C>T	c.(709-711)CGC>TGC	p.R237C	LRP5L_uc011ajz.1_Missense_Mutation_p.R237C|LRP5L_uc010guw.1_Intron	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	237											0						TGTGTGGGGCGTGAAGAAGCA	0.572													A	25747816	G	A	25747816	3	1	228	1	0	0	0	0	1	0	0	0	8961	1145	40	1	53	1	LRP5L	22	25747816	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1030489	25747816	25556750	990	116009											
SFI1	9814	broad.mit.edu	37	chr22	32011260	32011260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcggggcggctgcaccaGccagggtacgtcctccacca	13	17	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:32011260G>T	uc003ale.2	+	29	3688	c.3295G>T	c.(3295-3297)GCC>TCC	p.A1099S	SFI1_uc003alf.2_Missense_Mutation_p.A1068S|SFI1_uc003alg.2_Missense_Mutation_p.A1017S|SFI1_uc011alp.1_Missense_Mutation_p.A1005S|SFI1_uc011alq.1_Missense_Mutation_p.A1044S|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.A191S|SFI1_uc003alj.2_Missense_Mutation_p.A233S	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	1099					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GGCTGCACCAGCCAGGGTACG	0.642													T	32011260	G	T	32011260	3	4	228	1	0	0	0	0	1	0	0	0	14156	971	34	5	3405	5	SFI1	22	32011260	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6263444	32011260	19293306	991	116010											
RASD2	23551	broad.mit.edu	37	chr22	35947942	35947942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttctgcatgcgccgcGtcaaggagatggacgcctat	13	13	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:35947942G>A	uc003anx.2	+	3	869	c.664G>A	c.(664-666)GTC>ATC	p.V222I	RASD2_uc003any.2_Missense_Mutation_p.V222I	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	222	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						CATGCGCCGCGTCAAGGAGAT	0.637													A	35947942	G	A	35947942	3	1	228	1	0	0	0	0	1	0	0	0	13067	1145	40	1	670	1	RASD2	22	35947942	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	3936682	35947942	15356624	992	116011											
GGA1	26088	broad.mit.edu	37	chr22	38027048	38027048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcctccgcagcagccCgtaccaaccgagctctcact	8	20	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:38027048C>T	uc003atc.2	+	14	1835	c.1470C>T	c.(1468-1470)CCC>CCT	p.P490P	GGA1_uc003atd.2_Silent_p.P403P|GGA1_uc003ate.2_Silent_p.P486P|GGA1_uc003atf.2_Silent_p.P417P	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	490	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CGCAGCAGCCCGTACCAACCG	0.622													T	38027048	C	T	38027048	2	4	228	1	0	0	0	0	0	0	0	1	6352	639	23	1		1	GGA1	22	38027048	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2079106	38027048	13277518	993	116012											
TMEM184B	25829	broad.mit.edu	37	chr22	38621523	38621523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggtggcgaagtagAagaggaagagggcgtagagg	20	6	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:38621523A>G	uc003avf.1	-	7	919	c.695T>C	c.(694-696)TTC>TCC	p.F232S	TMEM184B_uc003avg.1_Missense_Mutation_p.F232S|TMEM184B_uc003avh.1_Missense_Mutation_p.F166S|TMEM184B_uc010gxl.1_RNA	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	232	Helical; (Potential).					integral to membrane					0	Melanoma(58;0.045)					GGCGAAGTAGAAGAGGAAGAG	0.577													G	38621523	A	G	38621523	3	3	228	1	0	0	0	0	1	0	0	0	16102	246	9	3	540	3	TMEM184B	22	38621523	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	594475	38621523	12683043	994	116013											
KCNJ4	3761	broad.mit.edu	37	chr22	38823526	38823526	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgcaggttgcccacgcgCcacatgaggcagagcttgcc	13	14	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:38823526C>T	uc003avs.1	-	2	709	c.612G>A	c.(610-612)TGG>TGA	p.W204*	KCNJ4_uc003avt.1_Nonsense_Mutation_p.W204*	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	204	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGCCCACGCGCCACATGAGGC	0.657													T	38823526	C	T	38823526	4	4	228	1	0	0	0	0	0	1	0	0	8053	740	26	2	729	2	KCNJ4	22	38823526	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	202003	38823526	12481040	995	116014											
APOBEC3G	60489	broad.mit.edu	37	chr22	39477208	39477208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagacggtccgcgtgccAccatgaagatcatgaattat	10	9	1	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:39477208A>G	uc003awx.2	+	3	784	c.442A>G	c.(442-444)ACC>GCC	p.T148A	APOBEC3G_uc003awy.2_Missense_Mutation_p.T81A	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	148					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					TCCGCGTGCCACCATGAAGAT	0.537													G	39477208	A	G	39477208	3	3	228	1	0	0	0	0	1	0	0	0	794	159	6	3	452	3	APOBEC3G	22	39477208	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	653682	39477208	11827358	996	116015											
ADSL	158	broad.mit.edu	37	chr22	40762510	40762510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtgatgaaggtgaaagCagaattatgtctgtagagtt	13	3	1	5			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:40762510C>T	uc003ayp.3	+	13	1498	c.1439C>T	c.(1438-1440)GCA>GTA	p.A480V	ADSL_uc003ays.3_Missense_Mutation_p.A421V|ADSL_uc003ayq.3_Missense_Mutation_p.A494V|ADSL_uc003ayr.3_Missense_Mutation_p.A256V|ADSL_uc003ayt.3_Missense_Mutation_p.A465V	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	480					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			ovary(1)	1						AAGGTGAAAGCAGAATTATGT	0.373													T	40762510	C	T	40762510	3	4	228	1	0	0	0	0	1	0	0	0	346	710	25	2	1489	2	ADSL	22	40762510	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1285302	40762510	10542056	997	116016											
ACO2	50	broad.mit.edu	37	chr22	41904043	41904043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggcgagaaagacctgcGccgggccaaggtgagcagaa	18	9	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:41904043G>A	uc003bac.2	+	3	444	c.422G>A	c.(421-423)CGC>CAC	p.R141H	ACO2_uc003bad.2_Missense_Mutation_p.R141H	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	141					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(2)|ovary(1)|lung(1)	4						AAAGACCTGCGCCGGGCCAAG	0.617													A	41904043	G	A	41904043	3	1	228	1	0	0	0	0	1	0	0	0	147	1087	38	1	432	1	ACO2	22	41904043	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1141533	41904043	9400523	998	116017											
TTLL1	25809	broad.mit.edu	37	chr22	43460205	43460205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacgcttacatgtaacagCgcagtggacggtacgtggac	15	9	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:43460205C>T	uc003bdi.2	-	6	870	c.629G>A	c.(628-630)CGC>CAC	p.R210H	TTLL1_uc010gzh.2_Missense_Mutation_p.R210H|TTLL1_uc003bdj.2_Missense_Mutation_p.R96H|TTLL1_uc003bdh.2_Missense_Mutation_p.R172H	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	210	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CATGTAACAGCGCAGTGGACG	0.463													T	43460205	C	T	43460205	3	4	228	1	0	0	0	0	1	0	0	0	16719	768	27	1	666	1	TTLL1	22	43460205	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1556162	43460205	7844361	999	116018											
SMC1B	27127	broad.mit.edu	37	chr22	45802421	45802421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttaaactgtgcatcctcttCggctttttgtaactttcttt	6	9	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:45802421C>T	uc003bgc.2	-	4	587	c.535G>A	c.(535-537)GAA>AAA	p.E179K	SMC1B_uc003bgd.2_Missense_Mutation_p.E179K|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	179	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCATCCTCTTCGGCTTTTTGT	0.368													T	45802421	C	T	45802421	3	4	228	1	0	0	0	0	1	0	0	0	14782	893	31	1	3260	1	SMC1B	22	45802421	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2342216	45802421	5502145	1000	116019											
ATXN10	25814	broad.mit.edu	37	chr22	46134638	46134638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctacaattaggcttctcGacgtcctgtgcgaaatgact	10	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:46134638G>A	uc003bgm.1	+	8	1179	c.922G>A	c.(922-924)GAC>AAC	p.D308N	ATXN10_uc011aqt.1_Missense_Mutation_p.D244N|ATXN10_uc003bgn.1_Missense_Mutation_p.D119N	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	308					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TAGGCTTCTCGACGTCCTGTG	0.383													A	46134638	G	A	46134638	3	1	228	1	0	0	0	0	1	0	0	0	1210	1058	37	1	952	1	ATXN10	22	46134638	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	332217	46134638	5169928	1001	116020											
PKDREJ	10343	broad.mit.edu	37	chr22	46652994	46652994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccctctgagccaggcGcacatcgtagaagaatctgg	13	11	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:46652994G>A	uc003bhh.2	-	1	6226	c.6226C>T	c.(6226-6228)CGC>TGC	p.R2076C		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	2076	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGAGCCAGGCGCACATCGTAG	0.458													A	46652994	G	A	46652994	3	1	228	1	0	0	0	0	1	0	0	0	11970	1087	38	1	539	1	PKDREJ	22	46652994	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	518356	46652994	4651572	1002	116021											
PKDREJ	10343	broad.mit.edu	37	chr22	46658610	46658610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggacacggacgactcgaCggctctgtggctggacgagt	15	11	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:46658610C>T	uc003bhh.2	-	1	610	c.610G>A	c.(610-612)GTC>ATC	p.V204I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	204	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACGACTCGACGGCTCTGTGG	0.637													T	46658610	C	T	46658610	3	4	228	1	0	0	0	0	1	0	0	0	11970	536	19	1	6155	1	PKDREJ	22	46658610	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5616	46658610	4645956	1003	116022											
ZBED4	9889	broad.mit.edu	37	chr22	50277799	50277799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgaggcacgtgaggcgCgcacacccgaccgtgctcat	12	15	2	2	rs148606148		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50277799C>T	uc003bix.2	+	2	959	c.489C>T	c.(487-489)CGC>CGT	p.R163R		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	163	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		ACGTGAGGCGCGCACACCCGA	0.552													T	50277799	C	T	50277799	2	4	228	1	0	0	0	0	0	0	0	1	17517	755	27	1		1	ZBED4	22	50277799	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3619189	50277799	1026767	1004	116023											
TTLL8	164714	broad.mit.edu	37	chr22	50470379	50470379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatggccttcttcatggaCgggtagatgacgctgcccca	13	12	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50470379C>T	uc011ark.1	-	11	1443	c.1443G>A	c.(1441-1443)CCG>CCA	p.P481P		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		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)		TCTTCATGGACGGGTAGATGA	0.647													T	50470379	C	T	50470379	2	4	228	1	0	0	0	0	0	0	0	1	16730	523	19	1		1	TTLL8	22	50470379	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	192580	50470379	834187	1005	116024											
PANX2	56666	broad.mit.edu	37	chr22	50616018	50616018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgcatcatcgcgggcGtggacatcgtgctgctgtgc	15	12	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50616018G>A	uc003bjn.3	+	2	877	c.877G>A	c.(877-879)GTG>ATG	p.V293M	PANX2_uc003bjp.3_Missense_Mutation_p.V159M|PANX2_uc003bjo.3_Missense_Mutation_p.V293M	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	293	Helical; (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CATCGCGGGCGTGGACATCGT	0.647													A	50616018	G	A	50616018	3	1	228	1	0	0	0	0	1	0	0	0	11421	1145	40	1	883	1	PANX2	22	50616018	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	145639	50616018	688548	1006	116025											
PLXNB2	23654	broad.mit.edu	37	chr22	50728320	50728320	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgtcctgctggttgaAgacaaagaagacgtaggggc	15	7	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chr22:50728320A>C	uc003bkv.3	-	3	800	c.694T>G	c.(694-696)TTC>GTC	p.F232V		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	232	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		TGCTGGTTGAAGACAAAGAAG	0.612													C	50728320	A	C	50728320	3	2	228	1	0	0	0	0	1	0	0	0	12124	72	3	5	4962	5	PLXNB2	22	50728320	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	112302	50728320	576246	1007	116026											
SFRS17A	8227	broad.mit.edu	37	chrX	1712983	1712983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccacaccttcagtttcGgggggcacttgaacttcgag	10	12	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:1712983G>A	uc004cqa.2	+	2	824	c.628G>A	c.(628-630)GGG>AGG	p.G210R	SFRS17A_uc010ncx.1_Missense_Mutation_p.G210R|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	210	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		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)				CTTCAGTTTCGGGGGGCACTT	0.587													A	1712983	G	A	1712983	3	1	228	1	0	0	0	0	1	0	0	0	14173	1116	39	1	630	1	SFRS17A	23	1712983	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08		1712983	153557577	1008	116027											
ZBED1	9189	broad.mit.edu	37	chrX	2407150	2407150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacgctggcgggcggcggCgtggatgtccgcatgagctt	18	10	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:2407150C>T	uc004cqg.2	-	2	1812	c.1611G>A	c.(1609-1611)ACG>ACA	p.T537T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.T537T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	537						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				CGGGCGGCGGCGTGGATGTCC	0.647													T	2407150	C	T	2407150	2	4	228	1	0	0	0	0	0	0	0	1	17514	755	27	1		1	ZBED1	23	2407150	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	694167	2407150	152863410	1009	116028											
ZBED1	9189	broad.mit.edu	37	chrX	2407741	2407741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcatgcagtgggccacGttctgctgcttctgcttctc	10	14	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:2407741G>A	uc004cqg.2	-	2	1221	c.1020C>T	c.(1018-1020)AAC>AAT	p.N340N	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.N340N	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	340						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				AGTGGGCCACGTTCTGCTGCT	0.637													A	2407741	G	A	2407741	2	1	228	1	0	0	0	0	0	0	0	1	17514	1136	40	1		1	ZBED1	23	2407741	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	591	2407741	152862819	1010	116029											
MXRA5	25878	broad.mit.edu	37	chrX	3235934	3235934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccgtgcaggttgctggCggtgcacatatactggcctc	14	12	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:3235934C>T	uc004crg.3	-	6	5945	c.5788G>A	c.(5788-5790)GCC>ACC	p.A1930T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1930	Ig-like C2-type 3.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGTTGCTGGCGGTGCACATA	0.527													T	3235934	C	T	3235934	3	4	228	1	0	0	0	0	1	0	0	0	10003	768	27	1	2706	1	MXRA5	23	3235934	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	828193	3235934	152034626	1011	116030											
KAL1	3730	broad.mit.edu	37	chrX	8503632	8503632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaagaggtgggacctacGgaaggcaggatctgggactg	17	7	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:8503632G>A	uc004csf.2	-	12	1992	c.1842C>T	c.(1840-1842)TCC>TCT	p.S614S		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	614	Fibronectin type-III 4.				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			ovary(3)|pancreas(1)	4						TGGGACCTACGGAAGGCAGGA	0.498													A	8503632	G	A	8503632	2	1	228	1	0	0	0	0	0	0	0	1	7974	1130	39	1		1	KAL1	23	8503632	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5267698	8503632	146766928	1012	116031											
FAM9C	171484	broad.mit.edu	37	chrX	13058875	13058875	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaaagccaacaatcatAcctttttagttgtgttgttc	5	8	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:13058875A>G	uc004cvh.1	-	5	539	c.329_splice	c.e5+1	p.R110_splice	FAM9C_uc004cvg.2_Splice_Site_p.R110_splice	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C							nucleus					0						CAACAATCATACCTTTTTAGT	0.299													G	13058875	A	G	13058875	5	3	228	1	0	0	0	0	0	0	1	0	5661	405	14	3	181	3	FAM9C	23	13058875	Splice_Site	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	4555243	13058875	142211685	1013	116032											
FANCB	2187	broad.mit.edu	37	chrX	14863040	14863040	+	Frame_Shift_Del	DEL	A	A	-													ttgaaagatcttctagacttAaaaaaactctgccacacaca							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:14863039_14863039TA>T	uc004cwg.1	-	7	2134	c.1866_1866TA>A	c.(1864-1866)ttafs	p.L622fs	FANCB_uc004cwh.1_Frame_Shift_Del_p.L622fs	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	622					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)					CTTCTAGACTTAAAAAAACTC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	14863040	A	-	14863040	7	5	228	1	0	1	0	1	0	0	0	0	5663	372	13	0	726	0	FANCB	23	14863040	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	1804165	14863040	140407520	1014	116033											
TXLNG	55787	broad.mit.edu	37	chrX	16836812	16836812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggctcaaattgtggtgGcacaagtaacaagcattcat	9	8	3	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:16836812G>A	uc004cxq.1	+	2	269	c.218G>A	c.(217-219)GGC>GAC	p.G73D	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	73					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						AATTGTGGTGGCACAAGTAAC	0.418													A	16836812	G	A	16836812	3	1	228	1	0	0	0	0	1	0	0	0	16786	1203	42	2	224	2	TXLNG	23	16836812	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1973772	16836812	138433748	1015	116034											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-													tgttcccaaagaggatgacaGgggggagggcgccgctgagg							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:19560214_19560214AG>A	uc004czm.3	-	15	2037	c.1721_1721CT>T	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_uc011mje.2_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.2_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.3_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.3_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	574					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						AGAGGATGACAGGGGGGAGGG	0.652													-	19560215	G	-	19560215	7	5	228	1	0	1	0	1	0	0	0	0	14255	991	35	0	289	0	SH3KBP1	23	19560215	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	2723403	19560215	135710345	1016	116035											
EIF1AX	1964	broad.mit.edu	37	chrX	20153954	20153954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacattttgattacctgagCatactctagcggggagaaag	10	8	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:20153954C>T	uc004czt.2	-	3	314	c.106G>A	c.(106-108)GCT>ACT	p.A36T		NM_001412	NP_001403	P47813	IF1AX_HUMAN	X-linked eukaryotic translation initiation	36	S1-like.					cytosol	translation initiation factor activity			ovary(1)	1						ATTACCTGAGCATACTCTAGC	0.378													T	20153954	C	T	20153954	3	4	228	1	0	0	0	0	1	0	0	0	4992	710	25	2	348	2	EIF1AX	23	20153954	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	593739	20153954	135116606	1017	116036											
RPS6KA3	6197	broad.mit.edu	37	chrX	20205970	20205970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacaccaaaagaccaccaGtcagcactctgagtatgacc	6	14	2	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:20205970G>A	uc004czu.2	-	9	750	c.750C>T	c.(748-750)GAC>GAT	p.D250D	RPS6KA3_uc011mjk.1_Silent_p.D221D|RPS6KA3_uc004czv.2_Silent_p.D238D|RPS6KA3_uc011mjl.1_Silent_p.D222D|RPS6KA3_uc011mjm.1_Silent_p.D222D	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	250	Protein kinase 1.				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			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						AAGACCACCAGTCAGCACTCT	0.398													A	20205970	G	A	20205970	2	1	228	1	0	0	0	0	0	0	0	1	13652	1020	36	4		4	RPS6KA3	23	20205970	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	52016	20205970	135064590	1018	116037											
MAGEB1	4112	broad.mit.edu	37	chrX	30268938	30268938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaaagatcctgtagccTgggaggcaggaatgctgatg	14	8	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:30268938T>C	uc004dcc.2	+	4	648	c.328T>C	c.(328-330)TGG>CGG	p.W110R	MAGEB1_uc004dcd.2_Missense_Mutation_p.W110R|MAGEB1_uc004dce.2_Missense_Mutation_p.W110R	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	110	MAGE.										0						TCCTGTAGCCTGGGAGGCAGG	0.453													C	30268938	T	C	30268938	3	2	228	1	0	0	0	0	1	0	0	0	9172	1580	55	3	330	3	MAGEB1	23	30268938	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	10062968	30268938	125001622	1019	116038											
DMD	1756	broad.mit.edu	37	chrX	32235152	32235152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatcataatgaaaacgccGccatttctcaacagatctgt	5	10	3	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:32235152G>A	uc004dda.1	-	44	6563	c.6319C>T	c.(6319-6321)CGG>TGG	p.R2107W	DMD_uc004dcw.2_Missense_Mutation_p.R763W|DMD_uc004dcx.2_Missense_Mutation_p.R766W|DMD_uc004dcz.2_Missense_Mutation_p.R1984W|DMD_uc004dcy.1_Missense_Mutation_p.R2103W|DMD_uc004ddb.1_Missense_Mutation_p.R2099W|DMD_uc010ngo.1_Missense_Mutation_p.R16W|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2107	Spectrin 15.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TGAAAACGCCGCCATTTCTCA	0.348													A	32235152	G	A	32235152	3	1	228	1	0	0	0	0	1	0	0	0	4580	1086	38	1	5030	1	DMD	23	32235152	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1966214	32235152	123035408	1020	116039											
FAM47B	170062	broad.mit.edu	37	chrX	34960964	34960964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgggggaccggaggCcacaggaccggccaaggtcc	15	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:34960964C>T	uc004ddi.1	+	1	34	c.16C>T	c.(16-18)CCA>TCA	p.P6S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	6										ovary(3)|breast(1)	4						GGACCGGAGGCCACAGGACCG	0.627													T	34960964	C	T	34960964	3	4	228	1	0	0	0	0	1	0	0	0	5570	739	26	2	18	2	FAM47B	23	34960964	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	2725812	34960964	120309596	1021	116040											
CHST7	56548	broad.mit.edu	37	chrX	46433662	46433662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggggaggcagtgtctcGcgagaagcagcacatctacg	15	10	2	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:46433662G>A	uc004dgt.2	+	1	471	c.296G>A	c.(295-297)CGC>CAC	p.R99H		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	99	Lumenal (Potential).				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)	3						GCAGTGTCTCGCGAGAAGCAG	0.647													A	46433662	G	A	46433662	3	1	228	1	0	0	0	0	1	0	0	0	3409	1087	38	1	298	1	CHST7	23	46433662	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	11472698	46433662	108836898	1022	116041											
CHST7	56548	broad.mit.edu	37	chrX	46433912	46433912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgctgcgcgcgccccGgacacggccaatcttaccac	10	20	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:46433912G>A	uc004dgt.2	+	1	721	c.546G>A	c.(544-546)CCG>CCA	p.P182P		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	182	Lumenal (Potential).				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)	3						cgcgcgccccggACACGGCCA	0.562													A	46433912	G	A	46433912	2	1	228	1	0	0	0	0	0	0	0	1	3409	1103	39	1		1	CHST7	23	46433912	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	250	46433912	108836648	1023	116042											
CHST7	56548	broad.mit.edu	37	chrX	46434160	46434160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctggtgcccctgttgcGtgatccaggcctcaacctga	12	14	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:46434160G>A	uc004dgt.2	+	1	969	c.794G>A	c.(793-795)CGT>CAT	p.R265H		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	265	Lumenal (Potential).				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)	3						CCCCTGTTGCGTGATCCAGGC	0.657													A	46434160	G	A	46434160	3	1	228	1	0	0	0	0	1	0	0	0	3409	1145	40	1	796	1	CHST7	23	46434160	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	248	46434160	108836400	1024	116043											
ARAF	369	broad.mit.edu	37	chrX	47424204	47424204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccctgcagacgaaagaCggtcactgcctgggacacag	12	14	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:47424204C>T	uc011mlq.1	+	4	342	c.209C>T	c.(208-210)ACG>ATG	p.T70M	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Translation_Start_Site|ARAF_uc011mlp.1_Missense_Mutation_p.T70M|ARAF_uc004dic.1_5'Flank	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	70	RBD.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGACGAAAGACGGTCACTGCC	0.592													T	47424204	C	T	47424204	3	4	228	1	0	0	0	0	1	0	0	0	837	536	19	1	219	1	ARAF	23	47424204	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	990044	47424204	107846356	1025	116044											
HDAC6	10013	broad.mit.edu	37	chrX	48666716	48666716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaggaacacagttcacCttcgaccaggaccccaggta	10	13	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:48666716C>T	uc011mmi.1	+	10	884	c.789C>T	c.(787-789)ACC>ACT	p.T263T	HDAC6_uc004dks.1_Silent_p.T263T|HDAC6_uc010nig.1_Silent_p.T111T|HDAC6_uc004dkt.1_Silent_p.T263T|HDAC6_uc011mmj.1_Silent_p.T208T|HDAC6_uc011mmk.1_Silent_p.T244T	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	263	Histone deacetylase 1.				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			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	CACAGTTCACCTTCGACCAGG	0.577													T	48666716	C	T	48666716	2	4	228	1	0	0	0	0	0	0	0	1	7011	668	24	4		4	HDAC6	23	48666716	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1242512	48666716	106603844	1026	116045											
ERAS	3266	broad.mit.edu	37	chrX	48687744	48687744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcttcgtggaggaccacGaccccaccatccaggattcc	10	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:48687744G>A	uc004dky.1	+	1	462	c.211G>A	c.(211-213)GAC>AAC	p.D71N		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	71	Effector region (By similarity).				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			lung(4)|urinary_tract(1)	5						GGAGGACCACGACCCCACCAT	0.612													A	48687744	G	A	48687744	3	1	228	1	0	0	0	0	1	0	0	0	5205	1058	37	1	213	1	ERAS	23	48687744	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	21028	48687744	106582816	1027	116046											
CACNA1F	778	broad.mit.edu	37	chrX	49067892	49067892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggatcacaccgatttcCgggaaggctggcaagcatta	11	11	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:49067892C>T	uc004dnb.2	-	36	4245	c.4183G>A	c.(4183-4185)GGA>AGA	p.G1395R	CACNA1F_uc010nip.2_Missense_Mutation_p.G1384R	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1395	Extracellular (Potential).|IV.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CACCGATTTCCGGGAAGGCTG	0.532													T	49067892	C	T	49067892	3	4	228	1	0	0	0	0	1	0	0	0	2543	661	23	1	1802	1	CACNA1F	23	49067892	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	380148	49067892	106202668	1028	116047											
DGKK	139189	broad.mit.edu	37	chrX	50146496	50146496	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctagtacttactacttcaTctgcaggcagaaggaggtca	11	9	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:50146496T>A	uc010njr.1	-	6	1238	c.1178A>T	c.(1177-1179)GAT>GTT	p.D393V		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	393					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			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					TACTACTTCATCTGCAGGCAG	0.483													A	50146496	T	A	50146496	3	1	228	1	0	0	0	0	1	0	0	0	4472	1435	50	5	2728	5	DGKK	23	50146496	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1078604	50146496	105124064	1029	116048											
GSPT2	23708	broad.mit.edu	37	chrX	51487865	51487865	+	Frame_Shift_Del	DEL	A	A	-													aaaaaagtaggcttcagtccAaaaaaggacattcactttat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:51487864_51487864CA>C	uc004dpl.3	+	0	1384	c.1142_1142CA>C	c.(1141-1143)ccafs	p.P381fs		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	381					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)					GGCTTCAGTCCAAAAAAGGAC	0.388													-	51487865	A	-	51487865	7	5	228	1	0	1	0	1	0	0	0	0	6827	117	5	0	1145	0	GSPT2	23	51487865	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	1341369	51487865	103782695	1030	116049											
IQSEC2	23096	broad.mit.edu	37	chrX	53285133	53285133	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcccactccagcaggggggCcccccatgtggctgctggag	16	15	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:53285133C>G	uc004dsd.2	-	3	1049	c.848G>C	c.(847-849)GGC>GCC	p.G283A	IQSEC2_uc004dsc.2_Missense_Mutation_p.G78A	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	273					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						AGCAGGGGGGCCCCCCATGTG	0.687													G	53285133	C	G	53285133	3	3	228	1	0	0	0	0	1	0	0	0	7818	739	26	5	3670	5	IQSEC2	23	53285133	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	1797268	53285133	101985427	1031	116050											
RIBC1	158787	broad.mit.edu	37	chrX	53454959	53454959	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgggatcaggtggatgtCcaggccctgaacaaccaggt	13	10	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:53454959C>T	uc004dsk.2	+	4	279	c.126C>T	c.(124-126)GTC>GTT	p.V42V	RIBC1_uc004dsj.1_Silent_p.V42V|RIBC1_uc011mog.1_Silent_p.V42V	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	42											0						AGGTGGATGTCCAGGCCCTGA	0.517													T	53454959	C	T	53454959	2	4	228	1	0	0	0	0	0	0	0	1	13352	842	30	4		4	RIBC1	23	53454959	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	169826	53454959	101815601	1032	116051											
HUWE1	10075	broad.mit.edu	37	chrX	53631667	53631667	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaacattgcctgcgcaAgccagttctcgcaacaacac	7	15	2	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:53631667A>C	uc004dsp.2	-	26	3027	c.2625T>G	c.(2623-2625)GCT>GCG	p.A875A		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	875					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TGCCTGCGCAAGCCAGTTCTC	0.562													C	53631667	A	C	53631667	2	2	228	1	0	0	0	0	0	0	0	1	7461	59	3	5		5	HUWE1	23	53631667	Silent	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	176708	53631667	101638893	1033	116052											
SPIN3	169981	broad.mit.edu	37	chrX	57020676	57020676	+	Frame_Shift_Del	DEL	T	T	-													ttgatgaagtacacagagggTtttgcttctacctgatgaat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:57020675_57020675GT>G	uc022bxv.1	-	0	706	c.706_706AC>C	c.(706-708)cccfs	p.P236fs	SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Frame_Shift_Del_p.P236fs|SPIN3_uc004dux.1_Frame_Shift_Del_p.P236fs	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	236					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TACACAGAGGGTTTTGCTTCT	0.403													-	57020676	T	-	57020676	7	5	228	1	0	1	0	1	0	0	0	0	15054	1722	60	0	75	0	SPIN3	23	57020676	Frame_Shift_Del	DEL	T	TCGA-D7-A4YV-01A-11D-A25D-08	3389009	57020676	98249884	1034	116053											
MTMR8	55613	broad.mit.edu	37	chrX	63555963	63555963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagtatatttttacctttGggaaaacttgtggcccatgg	10	6	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:63555963G>T	uc004dvs.2	-	10	1215	c.1147C>A	c.(1147-1149)CAA>AAA	p.Q383K	MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Missense_Mutation_p.Q383K	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	383	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TTTTACCTTTGGGAAAACTTG	0.338													T	63555963	G	T	63555963	3	4	228	1	0	0	0	0	1	0	0	0	9949	1357	47	5	987	5	MTMR8	23	63555963	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6535287	63555963	91714597	1035	116054											
EDA	1896	broad.mit.edu	37	chrX	69243069	69243069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttatttttcttataggCccagttaaaaacaagaaaaa	4	5	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:69243069C>T	uc004dxs.2	+	3	746	c.504C>T	c.(502-504)GGC>GGT	p.G168G	EDA_uc004dxr.2_Silent_p.G168G|EDA_uc011mpj.1_Silent_p.G168G	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	168	Extracellular (Potential).				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			ovary(2)|large_intestine(1)	3						TTCTTATAGGCCCAGTTAAAA	0.303													T	69243069	C	T	69243069	2	4	228	1	0	0	0	0	0	0	0	1	4903	753	26	2		2	EDA	23	69243069	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	5687106	69243069	86027491	1036	116055											
CXorf65	158830	broad.mit.edu	37	chrX	70325942	70325942	+	Frame_Shift_Del	DEL	A	A	-													catgattgggcttcatcaggAaaagcatcttcattttcccc							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:70325942delA	uc011mpo.1	-	3	172	c.158delT	c.(157-159)TTCfs	p.F53fs	CXorf65_uc011mpp.1_Frame_Shift_Del_p.F5fs	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	53										central_nervous_system(1)	1						CTTCATCAGGAAAAGCATCTT	0.493													-	70325942	A	-	70325942	7	5	228	1	0	1	0	1	0	0	0	0	4117	246	9	0	409	0	CXorf65	23	70325942	Frame_Shift_Del	DEL	A	TCGA-D7-A4YV-01A-11D-A25D-08	1082873	70325942	84944618	1037	116056											
OGT	8473	broad.mit.edu	37	chrX	70757854	70757854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatattaacctggcagccGccttggtagcagcgggtgac	13	10	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:70757854G>A	uc004eaa.1	+	3	611	c.394G>A	c.(394-396)GCC>ACC	p.A132T	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.A122T|OGT_uc011mpw.1_Missense_Mutation_p.A132T	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	132	TPR 3.				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			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					CCTGGCAGCCGCCTTGGTAGC	0.463													A	70757854	G	A	70757854	3	1	228	1	0	0	0	0	1	0	0	0	10847	1087	38	1	404	1	OGT	23	70757854	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	431912	70757854	84512706	1038	116057											
ABCB7	22	broad.mit.edu	37	chrX	74376093	74376093	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccagcgccaagaatgcatCgcgagcagcgccatcttgag	12	14	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:74376093C>T	uc004eca.2	-	1	40	c.15G>A	c.(13-15)GCG>GCA	p.A5A	ABCB7_uc004ebz.2_Silent_p.A5A|ABCB7_uc011mqn.1_Silent_p.A5A|ABCB7_uc010nls.2_Silent_p.A5A|ABCB7_uc010nlt.2_Silent_p.A5A	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	5					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						AAGAATGCATCGCGAGCAGCG	0.582											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74376093	C	T	74376093	2	4	228	1	0	0	0	0	0	0	0	1	46	871	31	1		1	ABCB7	23	74376093	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3618239	74376093	80894467	1039	116058											
CXorf26	51260	broad.mit.edu	37	chrX	75393486	75393489	+	Splice_Site	DEL	GTGA	GTGA	-													cagagtcgtatggcaacgatGtgagtatgactcacccacag							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:75393485_75393488TGTGA>T	uc004ecl.1	+	2	299	c.96_splice	c.e2+1	p.D32_splice	CXorf26_uc004eck.1_Non-coding_Transcript	NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	Homo sapiens chromosome X open reading frame 26 (CXorf26), mRNA.	32										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)	14						ATGGCAACGATGTGAGTATGACTC	0.534													-	75393489	GTGA	-	75393486	8	5	228	1	0	1	0	1	0	0	1	0	4104	1391	48	0	103	0	CXorf26	23	75393486	Splice_Site	DEL	GTGA	TCGA-D7-A4YV-01A-11D-A25D-08	1017393	75393486	79877074	1040	116059											
ATRX	546	broad.mit.edu	37	chrX	76939918	76939918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacgctgttacatgcagtgAccaagtccaacaaaggctct	8	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:76939918A>G	uc004ecp.3	-	9	1062	c.830T>C	c.(829-831)GTC>GCC	p.V277A	ATRX_uc004ecq.3_Missense_Mutation_p.V239A|ATRX_uc004eco.3_Missense_Mutation_p.V62A|ATRX_uc004ecr.2_Missense_Mutation_p.V238A|ATRX_uc010nlx.1_Missense_Mutation_p.V277A|ATRX_uc010nly.1_Missense_Mutation_p.V222A	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	277	ADD.				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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ACATGCAGTGACCAAGTCCAA	0.368			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76939918	A	G	76939918	3	3	228	1	0	0	0	0	1	0	0	0	1208	275	10	3	6756	3	ATRX	23	76939918	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	1546432	76939918	78330642	1041	116060											
MAGT1	84061	broad.mit.edu	37	chrX	77150883	77150883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccatggtcacagagacacAccaaaaccgccaacgcgctg	8	16	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:77150883A>G	uc004fof.2	-	1	183	c.121T>C	c.(121-123)TGT>CGT	p.C41R	MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.C41R	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	9					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						ACAGAGACACACCAAAACCGC	0.567													G	77150883	A	G	77150883	3	3	228	1	0	0	0	0	1	0	0	0	9196	159	6	3	1022	3	MAGT1	23	77150883	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	210965	77150883	78119677	1042	116061											
POU3F4	5456	broad.mit.edu	37	chrX	82763852	82763852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagcccccggatcacggcGaactgggctcgcaccattgc	13	15	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:82763852G>A	uc004eeg.2	+	1	584	c.520G>A	c.(520-522)GAA>AAA	p.E174K		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	174					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGATCACGGCGAACTGGGCTC	0.602													A	82763852	G	A	82763852	3	1	228	1	0	0	0	0	1	0	0	0	12277	1059	37	1	522	1	POU3F4	23	82763852	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	5612969	82763852	72506708	1043	116062											
PCDH11X	27328	broad.mit.edu	37	chrX	91873765	91873765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtgctgatgggctatgCtctgttgatcagggagtgca	15	7	2	2	rs146706969		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:91873765C>T	uc004efk.1	+	7	4715	c.3870C>T	c.(3868-3870)TGC>TGT	p.C1290C	PCDH11X_uc004efl.1_Silent_p.C1280C|PCDH11X_uc004efo.1_Silent_p.C1253C|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.C1282C|PCDH11X_uc004efn.1_Silent_p.C1272C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1290	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATGGGCTATGCTCTGTTGATC	0.473													T	91873765	C	T	91873765	2	4	228	1	0	0	0	0	0	0	0	1	11508	805	28	2		2	PCDH11X	23	91873765	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	9109913	91873765	63396795	1044	116063											
DIAPH2	1730	broad.mit.edu	37	chrX	96013170	96013170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggacatgaaccttaaCgaagagaaaaaagctccttt	9	8	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:96013170C>T	uc004efu.3	+	4	756	c.360C>T	c.(358-360)AAC>AAT	p.N120N	DIAPH2_uc004eft.3_Silent_p.N120N|DIAPH2_uc004efs.2_Silent_p.N120N	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	120	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGAACCTTAACGAAGAGAAAA	0.363													T	96013170	C	T	96013170	2	4	228	1	0	0	0	0	0	0	0	1	4519	535	19	1		1	DIAPH2	23	96013170	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	4139405	96013170	59257390	1045	116064											
SYTL4	94121	broad.mit.edu	37	chrX	99956505	99956505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccattgctttcctgtatgCggcagtcccgacacaccagg	9	14	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:99956505C>T	uc004egd.3	-	5	631	c.275G>A	c.(274-276)CGC>CAC	p.R92H	SYTL4_uc010nnc.2_Missense_Mutation_p.R92H|SYTL4_uc004ege.3_Missense_Mutation_p.R92H|SYTL4_uc004egf.3_Missense_Mutation_p.R92H|SYTL4_uc004egg.3_Missense_Mutation_p.R92H	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	92	RabBD.|FYVE-type.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTGTATGCGGCAGTCCCG	0.582													T	99956505	C	T	99956505	3	4	228	1	0	0	0	0	1	0	0	0	15482	768	27	1	1800	1	SYTL4	23	99956505	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	3943335	99956505	55314055	1046	116065											
TCEAL5	340543	broad.mit.edu	37	chrX	102529121	102529121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccttgggggaatcgtccGtccccctgtcggtttttctt	11	12	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:102529121G>A	uc004ejz.1	-	3	666	c.371C>T	c.(370-372)ACG>ATG	p.T124M		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						GGAATCGTCCGTCCCCCTGTC	0.577													A	102529121	G	A	102529121	3	1	228	1	0	0	0	0	1	0	0	0	15671	1145	40	1	253	1	TCEAL5	23	102529121	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	2572616	102529121	52741439	1047	116066											
WBP5	51186	broad.mit.edu	37	chrX	102612760	102612760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttttagagaaaggctgAttcaatctctccaggagttt	9	7	2	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:102612760A>G	uc004ekd.2	+	3	449	c.148A>G	c.(148-150)ATT>GTT	p.I50V	WBP5_uc004eke.2_Missense_Mutation_p.I50V|WBP5_uc004ekf.2_Missense_Mutation_p.I50V|WBP5_uc004ekg.2_Missense_Mutation_p.I50V	NM_001006612	NP_001006613	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	50	Glu-rich.										0						AGAAAGGCTGATTCAATCTCT	0.413													G	102612760	A	G	102612760	3	3	228	1	0	0	0	0	1	0	0	0	17259	333	12	3	150	3	WBP5	23	102612760	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	83639	102612760	52657800	1048	116067											
FAM199X	139231	broad.mit.edu	37	chrX	103432819	103432819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcaccagtggagtgagCggtgccagtgccagcgccag	16	12	0	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:103432819C>T	uc004elw.2	+	5	994	c.828C>T	c.(826-828)AGC>AGT	p.S276S	FAM199X_uc004elx.2_Silent_p.S93S	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	276	Ser-rich.									ovary(1)	1						GTGGAGTGAGCGGTGCCAGTG	0.552													T	103432819	C	T	103432819	2	4	228	1	0	0	0	0	0	0	0	1	5530	767	27	1		1	FAM199X	23	103432819	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	820059	103432819	51837741	1049	116068											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011292	105011292	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaatgctacctcggTgccatgttctggactccgca	9	11	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:105011292T>G	uc004elz.1	+	11	2455	c.1699T>G	c.(1699-1701)TGC>GGC	p.C567G		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	567	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						GCTACCTCGGTGCCATGTTCT	0.433													G	105011292	T	G	105011292	3	3	228	1	0	0	0	0	1	0	0	0	7662	1696	59	5	1737	5	IL1RAPL2	23	105011292	Missense_Mutation	SNP	T	TCGA-D7-A4YV-01A-11D-A25D-08	1578473	105011292	50259268	1050	116069											
NRK	203447	broad.mit.edu	37	chrX	105137885	105137885	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtgagaatgaccagtaatCagagtttaaaagaagattgg	11	3	1	5			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:105137885C>T	uc004emd.2	+	6	742	c.439C>T	c.(439-441)CAG>TAG	p.Q147*	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	147	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GACCAGTAATCAGAGTTTAAA	0.403										HNSCC(51;0.14)			T	105137885	C	T	105137885	4	4	228	1	0	0	0	0	0	1	0	0	10655	827	29	4	461	4	NRK	23	105137885	Nonsense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	126593	105137885	50132675	1051	116070											
LRCH2	57631	broad.mit.edu	37	chrX	114384409	114384409	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaatattcttttctaAtctgtttgctccgcctcctt	4	12	3	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:114384409A>C	uc010nqe.2	-	14	1707	c.1676T>G	c.(1675-1677)ATT>AGT	p.I559S	LRCH2_uc004epz.2_Missense_Mutation_p.I559S	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	559										ovary(1)	1						TTCTTTTCTAATCTGTTTGCT	0.323													C	114384409	A	C	114384409	3	2	228	1	0	0	0	0	1	0	0	0	8933	101	4	5	653	5	LRCH2	23	114384409	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	9246524	114384409	40886151	1052	116071											
XPNPEP2	7512	broad.mit.edu	37	chrX	128880625	128880625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagattcctgctggagggcGtgtgggttttgaccccttcc	14	11	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:128880625G>A	uc004eut.1	+	6	702	c.458G>A	c.(457-459)CGT>CAT	p.R153H	XPNPEP2_uc011mum.1_Missense_Mutation_p.R153H	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	153					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GCTGGAGGGCGTGTGGGTTTT	0.517													A	128880625	G	A	128880625	3	1	228	1	0	0	0	0	1	0	0	0	17440	1145	40	1	480	1	XPNPEP2	23	128880625	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	14496216	128880625	26389935	1053	116072											
RAB33A	9363	broad.mit.edu	37	chrX	129318301	129318301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggaacgtttccgcaaaAgcatggtcgagcattactac	10	10	1	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:129318301A>G	uc004evl.2	+	2	565	c.301A>G	c.(301-303)AGC>GGC	p.S101G	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	101					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						TTTCCGCAAAAGCATGGTCGA	0.483													G	129318301	A	G	129318301	3	3	228	1	0	0	0	0	1	0	0	0	12922	72	3	3	307	3	RAB33A	23	129318301	Missense_Mutation	SNP	A	TCGA-D7-A4YV-01A-11D-A25D-08	437676	129318301	25952259	1054	116073											
GPR112	139378	broad.mit.edu	37	chrX	135426784	135426784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatcttaaagacactgGtagatgagacagctacattt	7	6	1	3			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:135426784G>A	uc004ezu.1	+	6	1210	c.919G>A	c.(919-921)GTA>ATA	p.V307I	GPR112_uc010nsb.1_Missense_Mutation_p.V102I|GPR112_uc010nsc.1_Missense_Mutation_p.V74I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	307	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AAAGACACTGGTAGATGAGAC	0.378													A	135426784	G	A	135426784	3	1	228	1	0	0	0	0	1	0	0	0	6629	1261	44	4	929	4	GPR112	23	135426784	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	6108483	135426784	19843776	1055	116074											
GPR101	83550	broad.mit.edu	37	chrX	136112821	136112821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactggttgacctctgtgCgacccttgtctgccttcatg	10	13	3	1	rs148515087		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:136112821C>T	uc011mwh.1	-	1	1013	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	338	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GACCTCTGTGCGACCCTTGTC	0.542													T	136112821	C	T	136112821	3	4	228	1	0	0	0	0	1	0	0	0	6622	768	27	1	516	1	GPR101	23	136112821	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	686037	136112821	19157739	1056	116075											
GPR101	83550	broad.mit.edu	37	chrX	136113350	136113350	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagtggaggagtgctctGcaggatggccacaatccagg	16	8	1	1			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:136113350G>A	uc011mwh.1	-	1	484	c.484C>T	c.(484-486)CAG>TAG	p.Q162*		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	162	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GGAGTGCTCTGCAGGATGGCC	0.597													A	136113350	G	A	136113350	4	1	228	1	0	0	0	0	0	1	0	0	6622	1328	46	2	1045	2	GPR101	23	136113350	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	529	136113350	19157210	1057	116076											
SPANXN3	139067	broad.mit.edu	37	chrX	142596775	142596775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatgggcctaggtcttcatCctcatttgaagatccttcag	8	11	4	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:142596775C>T	uc004fbw.2	-	2	383	c.295G>A	c.(295-297)GAT>AAT	p.D99N		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	99										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCTTCATCCTCATTTGAA	0.453													T	142596775	C	T	142596775	3	4	228	1	0	0	0	0	1	0	0	0	14992	855	30	4	134	4	SPANXN3	23	142596775	Missense_Mutation	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	6483425	142596775	12673785	1058	116077											
GPR50	9248	broad.mit.edu	37	chrX	150349107	150349107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctcgtgaacaagaccGtgcccatgcctgtcctgctg	10	15	0	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:150349107G>A	uc010ntg.1	+	2	1187	c.1052G>A	c.(1051-1053)CGT>CAT	p.R351H	uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	351	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GAACAAGACCGTGCCCATGCC	0.612													A	150349107	G	A	150349107	3	1	228	1	0	0	0	0	1	0	0	0	6697	1145	40	1	1058	1	GPR50	23	150349107	Missense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	7752332	150349107	4921453	1059	116078											
MAGEA6	4105	broad.mit.edu	37	chrX	151869697	151869697	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtatcgagccagggagccGgtcacaaaggcagaaatgct	13	9	1	1	rs144510184		TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:151869697G>T	uc004ffq.1	+	3	581	c.387G>T	c.(385-387)CCG>CCT	p.P129P	MAGEA6_uc004ffr.1_Silent_p.P129P|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	129	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGAGCCGGTCACAAAGG	0.522													T	151869697	G	T	151869697	2	4	228	1	0	0	0	0	0	0	0	1	9170	1103	39	5		5	MAGEA6	23	151869697	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	1520590	151869697	3400863	1060	116079											
MAGEA6	4105	broad.mit.edu	37	chrX	151870148	151870148	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggtccaagggccctcattGaaaccagctatgtgaaagtc	12	10	1	2			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:151870148G>T	uc004ffq.1	+	3	1032	c.838G>T	c.(838-840)GAA>TAA	p.E280*	MAGEA6_uc004ffr.1_Nonsense_Mutation_p.E280*|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	280	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCATTGAAACCAGCTA	0.537													T	151870148	G	T	151870148	4	4	228	1	0	0	0	0	0	1	0	0	9170	1291	45	5	840	5	MAGEA6	23	151870148	Nonsense_Mutation	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	451	151870148	3400412	1061	116080											
MAGEA3	4102	broad.mit.edu	37	chrX	151935399	151935399	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggggacctgccggtactcCaggtagttttcctgcacgaa	12	13	0	0			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:151935399C>G	uc004fgp.2	-	3	977	c.768G>C	c.(766-768)CTG>CTC	p.L256L		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	256	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGTACTCCAGGTAGTTTT	0.532													G	151935399	C	G	151935399	2	3	228	1	0	0	0	0	0	0	0	1	9167	581	21	5		5	MAGEA3	23	151935399	Silent	SNP	C	TCGA-D7-A4YV-01A-11D-A25D-08	65251	151935399	3335161	1062	116081											
PNMA3	29944	broad.mit.edu	37	chrX	152225667	152225667	+	Frame_Shift_Del	DEL	G	G	-													ccaagggaaataccaggaaaGggggggccctgggaagtgat							TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:152225666_152225666AG>A	uc022cho.1	+	0	254	c.254_254AG>A	c.(253-255)aagfs	p.K85fs	PNMA3_uc004fhc.2_Frame_Shift_Del_p.K85fs|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	85					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)					ataccaggaaagggggggccc	0.527													-	152225667	G	-	152225667	7	5	228	1	0	1	0	1	0	0	0	0	12155	991	35	0	257	0	PNMA3	23	152225667	Frame_Shift_Del	DEL	G	TCGA-D7-A4YV-01A-11D-A25D-08	290268	152225667	3044893	1063	116082											
ATP2B3	492	broad.mit.edu	37	chrX	152813354	152813354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagagcgcggagggtggGgagatggaggagcgggagaa	23	4	0	4			TCGA-D7-A4YV-01A-11D-A25D-08	TCGA-D7-A4YV-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5adc47c4-651b-456b-9c37-0a2980dddc44	a1f1d449-d527-42ca-96e4-96095e5c3c25	g.chrX:152813354G>A	uc004fht.1	+	7	1146	c.1020G>A	c.(1018-1020)GGG>GGA	p.G340G	ATP2B3_uc004fhs.1_Silent_p.G340G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	340	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGGTGGGGAGATGGAGG	0.582													A	152813354	G	A	152813354	2	1	228	1	0	0	0	0	0	0	0	1	1141	1219	43	4		4	ATP2B3	23	152813354	Silent	SNP	G	TCGA-D7-A4YV-01A-11D-A25D-08	587687	152813354	2457206	1064	116083											
C1orf187	374946	broad.mit.edu	37	chr1	11766500	11766500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccgccggcggggccCgggcaagaaggagtggggcc	18	15	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:11766500C>T	uc001asr.1	+	2	325	c.185C>T	c.(184-186)CCG>CTG	p.P62L		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	62					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	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;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CGGCGGGGCCCGGGCAAGAAG	0.726													T	11766500	C	T	11766500	3	4	229	1	0	0	0	0	1	0	0	0	2021	652	23	1	187	1	C1orf187	1	11766500	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		11766500	237484121	1	116084											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17914087	17914087	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtccccagccttgctcCtgagagggacacagaccccc	12	17	0	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:17914087C>G	uc001ban.2	+	3	329	c.170C>G	c.(169-171)CCT>CGT	p.P57R	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P57R|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P57R|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P57R|ARHGEF10L_uc010ocr.1_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	57					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		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)		AGCCTTGCTCCTGAGAGGGAC	0.587													G	17914087	C	G	17914087	3	3	229	1	0	0	0	0	1	0	0	0	895	681	24	5	176	5	ARHGEF10L	1	17914087	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	6147587	17914087	231336534	2	116085											
ARID1A	8289	broad.mit.edu	37	chr1	27101189	27101196	+	Frame_Shift_Del	DEL	GTTGCTCA	GTTGCTCA	-													ccatacaggcatcagctgagGttgctcagcaaggcaccatg							TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:27101189_27101196delGTTGCTCA	uc001bmv.1	+	18	4844_4851	c.4471_4478delGTTGCTCA	c.(4471-4479)GTTGCTCAGfs	p.V1491fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.V1490fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.V1108fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.V337fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1491_1493					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		ATCAGCTGAGGTTGCTCAGCAAGGCACC	0.601			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27101196	GTTGCTCA	-	27101189	7	5	229	1	0	1	0	1	0	0	0	0	913	1261	44	0	4541	0	ARID1A	1	27101189	Frame_Shift_Del	DEL	GTTGCTCA	TCGA-D7-A4YX-01A-11D-A25D-08	9187102	27101189	222149432	3	116086											
MATN1	4146	broad.mit.edu	37	chr1	31188062	31188062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatggtcttgaagtcagcCgtgtagaagtagtgctctgc	13	7	3	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:31188062C>T	uc001brz.2	-	6	1336	c.1302G>A	c.(1300-1302)ACG>ACA	p.T434T	MATN1_uc001bsa.1_Silent_p.T352T	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	434	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		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)		TGAAGTCAGCCGTGTAGAAGT	0.532													T	31188062	C	T	31188062	2	4	229	1	0	0	0	0	0	0	0	1	9333	639	23	1		1	MATN1	1	31188062	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	4086873	31188062	218062559	4	116087											
NTNG1	22854	broad.mit.edu	37	chr1	107867165	107867165	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtctctcgattatggaCgaacatggcagccctatcag	10	10	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:107867165C>T	uc001dvh.3	+	3	1226	c.508C>T	c.(508-510)CGA>TGA	p.R170*	NTNG1_uc001dvf.3_Nonsense_Mutation_p.R170*|NTNG1_uc010out.1_Nonsense_Mutation_p.R170*|NTNG1_uc001dvc.3_Nonsense_Mutation_p.R170*|NTNG1_uc001dvd.1_Nonsense_Mutation_p.R170*	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	170	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CGATTATGGACGAACATGGCA	0.433													T	107867165	C	T	107867165	4	4	229	1	0	0	0	0	0	1	0	0	10704	528	19	1	514	1	NTNG1	1	107867165	Nonsense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	76679103	107867165	141383456	5	116088											
PHGDH	26227	broad.mit.edu	37	chr1	120263849	120263849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccgctgatgtcatcaaCgcagctgagaaactccaggt	11	11	2	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:120263849C>T	uc001ehz.2	+	2	422	c.195C>T	c.(193-195)AAC>AAT	p.N65N	PHGDH_uc009whl.2_Translation_Start_Site|PHGDH_uc009whm.2_Translation_Start_Site|PHGDH_uc001eia.2_Silent_p.N65N|PHGDH_uc009whn.2_Silent_p.N65N|PHGDH_uc001eib.2_Silent_p.N31N	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	65					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	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)	ATGTCATCAACGCAGCTGAGA	0.517													T	120263849	C	T	120263849	2	4	229	1	0	0	0	0	0	0	0	1	11841	535	19	1		1	PHGDH	1	120263849	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	12396684	120263849	128986772	6	116089											
PGLYRP3	114771	broad.mit.edu	37	chr1	153277444	153277444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttattgccaaagaaggCgatgcccagggaaatgttgt	11	7	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:153277444C>T	uc001fbn.1	-	3	408	c.355G>A	c.(355-357)GCC>ACC	p.A119T		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	119					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			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAAGAAGGCGATGCCCAGG	0.537													T	153277444	C	T	153277444	3	4	229	1	0	0	0	0	1	0	0	0	11795	768	27	1	690	1	PGLYRP3	1	153277444	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	33013595	153277444	95973177	7	116090											
NTRK1	4914	broad.mit.edu	37	chr1	156841515	156841515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagaacgatgtgggccGggcagaggtctctgttcagg	18	8	2	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:156841515G>A	uc001fqh.1	+	7	874	c.818G>A	c.(817-819)CGG>CAG	p.R273Q	NTRK1_uc001fqf.1_Missense_Mutation_p.R243Q|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Missense_Mutation_p.R273Q|NTRK1_uc009wsk.1_Missense_Mutation_p.R273Q	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	273	Ig-like C2-type 1.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GATGTGGGCCGGGCAGAGGTC	0.582			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			A	156841515	G	A	156841515	3	1	229	1	0	0	0	0	1	0	0	0	10706	1116	39	1	974	1	NTRK1	1	156841515	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	3564071	156841515	92409106	8	116091											
OR10K2	391107	broad.mit.edu	37	chr1	158390292	158390292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttacagatggctatgtaaCgatcataacccatgactgcc	9	10	1	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:158390292C>T	uc010pii.1	-	1	365	c.365G>A	c.(364-366)CGT>CAT	p.R122H		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GGCTATGTAACGATCATAACC	0.507													T	158390292	C	T	158390292	3	4	229	1	0	0	0	0	1	0	0	0	10914	536	19	1	575	1	OR10K2	1	158390292	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	1548777	158390292	90860329	9	116092											
SPTA1	6708	broad.mit.edu	37	chr1	158624513	158624513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctttgttctccagcaactCcctccactggtgcagcctgt	7	17	1	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:158624513C>T	uc001fst.1	-	21	3123	c.2924G>A	c.(2923-2925)GGA>GAA	p.G975E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	975					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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCCAGCAACTCCCTCCACTGG	0.512													T	158624513	C	T	158624513	3	4	229	1	0	0	0	0	1	0	0	0	15115	855	30	4	4463	4	SPTA1	1	158624513	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	234221	158624513	90626108	10	116093											
ZNF648	127665	broad.mit.edu	37	chr1	182025649	182025649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggaatcccttctccccGgagtggatctgttggtgccg	13	12	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:182025649G>A	uc001goz.2	-	2	1705	c.1497C>T	c.(1495-1497)TCC>TCT	p.S499S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTTCTCCCCGGAGTGGATCT	0.627													A	182025649	G	A	182025649	2	1	229	1	0	0	0	0	0	0	0	1	18060	1103	39	1		1	ZNF648	1	182025649	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	23401136	182025649	67224972	11	116094											
IARS2	55699	broad.mit.edu	37	chr1	220320847	220320847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttataggtggtgatattcGtgaagagtcttcctataaag	10	4	1	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:220320847G>T	uc001hmc.2	+	23	3013	c.2909G>T	c.(2908-2910)CGT>CTT	p.R970L	IARS2_uc001hmd.2_Missense_Mutation_p.R306L	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	970					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGTGATATTCGTGAAGAGTCT	0.378													T	220320847	G	T	220320847	3	4	229	1	0	0	0	0	1	0	0	0	7474	1145	40	5	2999	5	IARS2	1	220320847	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	38295198	220320847	28929774	12	116095											
TP53BP2	7159	broad.mit.edu	37	chr1	223990025	223990025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgacgcggcttgctgggGaagatttccatcagatgaaa	14	8	1	4			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:223990025G>A	uc010pvb.1	-	9	1310	c.1018C>T	c.(1018-1020)CCC>TCC	p.P340S	TP53BP2_uc001hod.2_Missense_Mutation_p.P211S|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_5'UTR	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	334	Interaction with APPBP1.				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			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GCTTGCTGGGGAAGATTTCCA	0.473													A	223990025	G	A	223990025	3	1	229	1	0	0	0	0	1	0	0	0	16381	1174	41	4	2426	4	TP53BP2	1	223990025	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	3669178	223990025	25260596	13	116096											
WDR64	128025	broad.mit.edu	37	chr1	241959601	241959601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttcttccactgattggcGtagaagcccaaaaggactct	9	10	2	2	rs139639842	by1000genomes	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:241959601G>A	uc001hzf.1	+	16	1903	c.1750G>A	c.(1750-1752)GTA>ATA	p.V584I	WDR64_uc001hzg.1_Missense_Mutation_p.V497I	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1031										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTGATTGGCGTAGAAGCCCA	0.398													A	241959601	G	A	241959601	3	1	229	1	0	0	0	0	1	0	0	0	17312	1145	40	1	3193	1	WDR64	1	241959601	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	17969576	241959601	7291020	14	116097											
OR2T12	127064	broad.mit.edu	37	chr1	248458154	248458154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagagtcccaccacagccaCatgtgaagagcaggtggcaa	11	11	0	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:248458154C>A	uc010pzj.1	-	1	727	c.727G>T	c.(727-729)GTG>TTG	p.V243L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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)			ACCACAGCCACATGTGAAGAG	0.512													A	248458154	C	A	248458154	3	1	229	1	0	0	0	0	1	0	0	0	11019	478	17	5	238	5	OR2T12	1	248458154	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	6498553	248458154	792467	15	116098											
KIF3C	3797	broad.mit.edu	37	chr2	26203456	26203456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaggatgggctggggcGggcggtggttgttgttgttg	20	6	0	0	rs145081324		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:26203456G>A	uc002rgu.2	-	1	1988	c.1331C>T	c.(1330-1332)CCG>CTG	p.P444L	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.P444L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	444	Potential.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTGGGGCGGGCGGTGGTT	0.607													A	26203456	G	A	26203456	3	1	229	1	0	0	0	0	1	0	0	0	8302	1116	39	1	1082	1	KIF3C	2	26203456	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08		26203456	216995917	16	116099											
OTOF	9381	broad.mit.edu	37	chr2	26781408	26781408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccctgccccgcagctccGagactgtcttgaggtggatg	13	15	1	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:26781408G>A	uc002rhk.2	-	1	159	c.32C>T	c.(31-33)TCG>TTG	p.S11L		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	11	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGCTCCGAGACTGTCTT	0.662													A	26781408	G	A	26781408	3	1	229	1	0	0	0	0	1	0	0	0	11303	1059	37	1	6474	1	OTOF	2	26781408	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	577952	26781408	216417965	17	116100											
IWS1	55677	broad.mit.edu	37	chr2	128263154	128263154	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgattgacatcctcattttCagaatcgcttgcaggaggct	9	10	2	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:128263154C>G	uc002ton.2	-	3	628	c.325G>C	c.(325-327)GAA>CAA	p.E109Q	IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	109	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCTCATTTTCAGAATCGCTT	0.463													G	128263154	C	G	128263154	3	3	229	1	0	0	0	0	1	0	0	0	7931	835	29	5	2182	5	IWS1	2	128263154	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	101481746	128263154	114936219	18	116101											
CSRNP3	80034	broad.mit.edu	37	chr2	166535217	166535217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttccttccaaggtggatCgtatgtctttcccatgcggc	9	12	2	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:166535217C>T	uc002udf.2	+	7	1088	c.712C>T	c.(712-714)CGT>TGT	p.R238C	CSRNP3_uc002udg.2_Missense_Mutation_p.R238C	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	238	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			ovary(3)|large_intestine(1)|skin(1)	5						CAAGGTGGATCGTATGTCTTT	0.403													T	166535217	C	T	166535217	3	4	229	1	0	0	0	0	1	0	0	0	3965	884	31	1	726	1	CSRNP3	2	166535217	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	38272063	166535217	76664156	19	116102											
NEK10	152110	broad.mit.edu	37	chr3	27184958	27184958	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccacaagaatgtgcccatCtgtggccctaaatacaaaaa	7	11	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:27184958C>A	uc010hfk.2	-	11	1183	c.954G>T	c.(952-954)CAG>CAT	p.Q318H	NEK10_uc010hfj.2_Intron			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1006							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						ATGTGCCCATCTGTGGCCCTA	0.333													A	27184958	C	A	27184958	3	1	229	1	0	0	0	0	1	0	0	0	10322	928	32	5		5	NEK10	3	27184958	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		27184958	170837472	20	116103											
CTNNB1	1499	broad.mit.edu	37	chr3	41266599	41266599	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgaaccatcacagatgctGaaacatgcagttgtaaactt	8	9	1	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:41266599G>A	uc010hia.1	+	5	552	c.396G>A	c.(394-396)CTG>CTA	p.L132L	CTNNB1_uc003ckp.2_Silent_p.L132L|CTNNB1_uc003ckq.2_Silent_p.L132L|CTNNB1_uc003ckr.2_Silent_p.L132L|CTNNB1_uc011azf.1_Silent_p.L125L|CTNNB1_uc011azg.1_Silent_p.L60L|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	132					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(4)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGATGCTGAAACATGCAG	0.458		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41266599	G	A	41266599	2	1	229	1	0	0	0	0	0	0	0	1	4016	1277	45	4		4	CTNNB1	3	41266599	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	14081641	41266599	156755831	21	116104											
CTNNB1	1499	broad.mit.edu	37	chr3	41266671	41266671	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acacgtgcaatccctgaactGacaaaactgctaaatgacga	7	11	0	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:41266671G>C	uc010hia.1	+	5	624	c.468G>C	c.(466-468)CTG>CTC	p.L156L	CTNNB1_uc003ckp.2_Silent_p.L156L|CTNNB1_uc003ckq.2_Silent_p.L156L|CTNNB1_uc003ckr.2_Silent_p.L156L|CTNNB1_uc011azf.1_Silent_p.L149L|CTNNB1_uc011azg.1_Silent_p.L84L|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	156	ARM 1.				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)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCCCTGAACTGACAAAACTGC	0.418		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				C	41266671	G	C	41266671	2	2	229	1	0	0	0	0	0	0	0	1	4016	1277	45	5		5	CTNNB1	3	41266671	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	72	41266671	156755759	22	116105											
RNF123	63891	broad.mit.edu	37	chr3	49739039	49739039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccccactgctccagtaggGaggtgagtgcaccccaagtg	14	13	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:49739039G>A	uc003cxh.2	+	16	1479	c.1393G>A	c.(1393-1395)GAG>AAG	p.E465K	RNF123_uc010hky.1_Missense_Mutation_p.E127K|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	465						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCCAGTAGGGAGGTGAGTGC	0.632											OREG0015570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49739039	G	A	49739039	3	1	229	1	0	0	0	0	1	0	0	0	13433	1175	41	4	1451	4	RNF123	3	49739039	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	8472368	49739039	148283391	23	116106											
CACNA1D	776	broad.mit.edu	37	chr3	53842763	53842763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcccatcttcccccatcGcacggccctgcctctgcatc	6	21	3	0	rs150366975		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:53842763G>A	uc003dgv.3	+	46	6000	c.5837G>A	c.(5836-5838)CGC>CAC	p.R1946H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1966H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1922H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R1613H|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1946	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	TTCCCCCATCGCACGGCCCTG	0.632													A	53842763	G	A	53842763	3	1	229	1	0	0	0	0	1	0	0	0	2541	1087	38	1	6191	1	CACNA1D	3	53842763	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	4103724	53842763	144179667	24	116107											
CRYBG3	131544	broad.mit.edu	37	chr3	97655739	97655739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacaattggttccctccGtcctatgaagcaggtaagga	10	9	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:97655739G>A	uc003drx.2	+	16	2712	c.2648G>A	c.(2647-2649)CGT>CAT	p.R883H	CRYBG3_uc010hoz.1_RNA	NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GGTTCCCTCCGTCCTATGAAG	0.398													A	97655739	G	A	97655739	3	1	229	1	0	0	0	0	1	0	0	0	3913	1145	40	1	2710	1	CRYBG3	3	97655739	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	43812976	97655739	100366691	25	116108											
GATA2	2624	broad.mit.edu	37	chr3	128200036	128200038	+	In_Frame_Del	DEL	CTC	CTC	-													gcactgaagggggatgacttCtcctgcatgcactttgacag							TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:128200036_128200038delCTC	uc003ekm.3	-	7	1702_1704	c.1267_1269delGAG	c.(1267-1269)GAGdel	p.E423del	GATA2_uc003ekn.3_In_Frame_Del_p.E409del|GATA2_uc003eko.2_In_Frame_Del_p.E423del	NM_001145661	NP_001139133	P23769	GATA2_HUMAN	GATA binding protein 2 isoform 1	423					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			haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15				GBM - Glioblastoma multiforme(114;0.173)		GGGATGACTTCTCCTGCATGCAC	0.596			Mis		AML(CML blast transformation)								-	128200038	CTC	-	128200036	7	5	229	1	0	1	0	1	0	0	0	0	6254	912	32	0	177	0	GATA2	3	128200036	In_Frame_Del	DEL	CTC	TCGA-D7-A4YX-01A-11D-A25D-08	30544297	128200036	69822394	26	116109											
TF	7018	broad.mit.edu	37	chr3	133467336	133467336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactaagtgccagagtttcCgcgaccatatgaaaagcgtc	9	12	0	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:133467336C>T	uc003epu.1	+	7	1852	c.124C>T	c.(124-126)CGC>TGC	p.R42C	TF_uc011bls.1_Missense_Mutation_p.R42C|TF_uc011blt.1_Intron|TF_uc003epw.1_Intron|TF_uc010htv.1_RNA|TF_uc003epv.1_Missense_Mutation_p.R42C	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	42	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCAGAGTTTCCGCGACCATAT	0.542													T	133467336	C	T	133467336	3	4	229	1	0	0	0	0	1	0	0	0	15782	652	23	1	130	1	TF	3	133467336	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	5267300	133467336	64555094	27	116110											
SI	6476	broad.mit.edu	37	chr3	164716350	164716350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgattgatttgtccatgttGtcccatcgtgcatagttgtc	9	8	0	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:164716350G>T	uc003fei.2	-	38	4580	c.4518C>A	c.(4516-4518)GAC>GAA	p.D1506E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1506	Sucrase.|Lumenal.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTCCATGTTGTCCCATCGTG	0.403										HNSCC(35;0.089)			T	164716350	G	T	164716350	3	4	229	1	0	0	0	0	1	0	0	0	14297	1368	48	5	1009	5	SI	3	164716350	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	31249014	164716350	33306080	28	116111											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:178917478G>A	uc003fjk.2	+	3	510	c.353G>A	c.(352-354)GGT>GAT	p.G118D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	118					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.G118D(6)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	3	1	229	1	0	0	0	0	1	0	0	0	11913	1275	44	4	359	4	PIK3CA	3	178917478	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	14201128	178917478	19104952	29	116112											
EVC2	132884	broad.mit.edu	37	chr4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgcctgcactcacccGgctgtgcgactccaggatct	10	18	2	0	rs139610006		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:5586352G>A	uc003gij.2	-	17	3109	c.3055C>T	c.(3055-3057)CGG>TGG	p.R1019W	EVC2_uc011bwb.1_Missense_Mutation_p.R459W|EVC2_uc003gik.2_Missense_Mutation_p.R939W	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1019	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GCACTCACCCGGCTGTGCGAC	0.483													A	5586352	G	A	5586352	3	1	229	1	0	0	0	0	1	0	0	0	5286	1115	39	1	895	1	EVC2	4	5586352	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08		5586352	185567924	30	116113											
PARM1	25849	broad.mit.edu	37	chr4	75971375	75971375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtttctccaccaggcAttcctcctatggaagacttt	6	13	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:75971375A>T	uc003hih.1	+	4	1091	c.851A>T	c.(850-852)CAT>CTT	p.H284L		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	284	Cytoplasmic (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						TCCACCAGGCATTCCTCCTAT	0.507													T	75971375	A	T	75971375	3	4	229	1	0	0	0	0	1	0	0	0	11452	217	8	5	865	5	PARM1	4	75971375	Missense_Mutation	SNP	A	TCGA-D7-A4YX-01A-11D-A25D-08	70385023	75971375	115182901	31	116114											
WDFY3	23001	broad.mit.edu	37	chr4	85660241	85660241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccatgtggtcatgcgggCttctgcttccagtccaaatc	11	12	2	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:85660241C>T	uc003hpd.2	-	40	6904	c.6496G>A	c.(6496-6498)GCC>ACC	p.A2166T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2166						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCATGCGGGCTTCTGCTTCC	0.418													T	85660241	C	T	85660241	3	4	229	1	0	0	0	0	1	0	0	0	17267	797	28	2	4200	2	WDFY3	4	85660241	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	9688866	85660241	105494035	32	116115											
PCDH10	57575	broad.mit.edu	37	chr4	134073082	134073082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccccgctcggcggagcCgggttacctgctcacccgcg	14	18	1	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:134073082C>T	uc003iha.2	+	1	2613	c.1787C>T	c.(1786-1788)CCG>CTG	p.P596L	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P596L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	596	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGGCGGAGCCGGGTTACCTG	0.652													T	134073082	C	T	134073082	3	4	229	1	0	0	0	0	1	0	0	0	11507	652	23	1	1789	1	PCDH10	4	134073082	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	48412841	134073082	57081194	33	116116											
TRIO	7204	broad.mit.edu	37	chr5	14291165	14291165	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtgaaagctttcccaAaaagaactcaggctcaggca	10	10	2	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:14291165A>T	uc003jff.2	+	5	887	c.881A>T	c.(880-882)AAA>ATA	p.K294I	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.K245I|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	294					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGCTTTCCCAAAAAGAACTCA	0.552													T	14291165	A	T	14291165	3	4	229	1	0	0	0	0	1	0	0	0	16549	14	1	5	899	5	TRIO	5	14291165	Missense_Mutation	SNP	A	TCGA-D7-A4YX-01A-11D-A25D-08		14291165	166624095	34	116117											
CMYA5	202333	broad.mit.edu	37	chr5	79041267	79041267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggagcttgatgaggccGtcttcctgactgtaagtgcc	13	10	1	4			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:79041267G>A	uc003kgc.2	+	4	11029	c.10957G>A	c.(10957-10959)GTC>ATC	p.V3653I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3653	B-box coiled-coil; BBC.|Potential.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		TGATGAGGCCGTCTTCCTGAC	0.483													A	79041267	G	A	79041267	3	1	229	1	0	0	0	0	1	0	0	0	3590	1145	40	1	10971	1	CMYA5	5	79041267	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	64750102	79041267	101873993	35	116118											
CAST	831	broad.mit.edu	37	chr5	96066545	96066545	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctggtatcactgcaatatCtggcaagccgggtgacaagg	13	9	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:96066545C>T	uc003klz.1	+	7	524	c.362C>T	c.(361-363)TCT>TTT	p.S121F	CAST_uc003klt.2_Missense_Mutation_p.S121F|CAST_uc003klu.2_Missense_Mutation_p.S204F|CAST_uc003klv.2_Missense_Mutation_p.S182F|CAST_uc003klw.2_Missense_Mutation_p.S185F|CAST_uc003klx.2_Missense_Mutation_p.S163F|CAST_uc003kly.2_Missense_Mutation_p.S182F|CAST_uc011cuo.1_Missense_Mutation_p.S167F|CAST_uc011cup.1_Intron|CAST_uc011cuq.1_Intron|CAST_uc011cur.1_Missense_Mutation_p.S107F|CAST_uc011cus.1_Missense_Mutation_p.S121F|CAST_uc003kma.1_Missense_Mutation_p.S80F|CAST_uc011cut.1_Intron|CAST_uc003kmb.2_Missense_Mutation_p.S80F|CAST_uc003kmc.2_Missense_Mutation_p.S121F|CAST_uc003kmd.2_Missense_Mutation_p.S99F|CAST_uc003kme.2_Missense_Mutation_p.S80F|CAST_uc003kmf.2_Missense_Mutation_p.S99F	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	121							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ACTGCAATATCTGGCAAGCCG	0.453													T	96066545	C	T	96066545	3	4	229	1	0	0	0	0	1	0	0	0	2684	913	32	4	645	4	CAST	5	96066545	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	17025278	96066545	84848715	36	116119											
FAT2	2196	broad.mit.edu	37	chr5	150901482	150901482	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtgtcctgggggtctcGgtctgtggcatggatcttac	15	10	3	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:150901482G>C	uc003lue.3	-	18	10685	c.10672C>G	c.(10672-10674)CGA>GGA	p.R3558G	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.R251G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3558	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGGTCTCGGTCTGTGGCA	0.582													C	150901482	G	C	150901482	3	2	229	1	0	0	0	0	1	0	0	0	5690	1124	39	5	2401	5	FAT2	5	150901482	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	54834937	150901482	30013778	37	116120											
TRIM41	90933	broad.mit.edu	37	chr5	180659794	180659794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggggcgtgcgggagccGcggctagtcgccttgcagaa	18	11	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:180659794G>A	uc003mne.1	+	3	1739	c.1045G>A	c.(1045-1047)GCG>ACG	p.A349T	uc003mnb.1_5'Flank|TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Missense_Mutation_p.A349T|TRIM41_uc003mnf.1_RNA|TRIM41_uc010jlq.1_Missense_Mutation_p.A59T|TRIM41_uc003mng.1_5'Flank	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	349	Potential.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|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)			TGCGGGAGCCGCGGCTAGTCG	0.682													A	180659794	G	A	180659794	3	1	229	1	0	0	0	0	1	0	0	0	16513	1087	38	1	1055	1	TRIM41	5	180659794	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	29758312	180659794	255466	38	116121											
NOTCH4	4855	broad.mit.edu	37	chr6	32168694	32168694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatcgcagcaaggaagCggagtagaagcccagggtcc	14	12	0	1	rs143040647	by1000genomes	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr6:32168694C>T	uc003obb.2	-	23	4368	c.4229G>A	c.(4228-4230)CGC>CAC	p.R1410H	NOTCH4_uc003oba.2_Missense_Mutation_p.R73H|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1410	Extracellular (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						AGCAAGGAAGCGGAGTAGAAG	0.647													T	32168694	C	T	32168694	3	4	229	1	0	0	0	0	1	0	0	0	10551	768	27	1	1814	1	NOTCH4	6	32168694	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		32168694	138946373	39	116122											
THBS2	7058	broad.mit.edu	37	chr6	169648658	169648658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtctcgccagccacctGcacggtgacgttcttccact	10	15	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr6:169648658G>T	uc003qwt.2	-	4	711	c.463C>A	c.(463-465)CAG>AAG	p.Q155K		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	155	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CCAGCCACCTGCACGGTGACG	0.622													T	169648658	G	T	169648658	3	4	229	1	0	0	0	0	1	0	0	0	15851	1328	46	5	3135	5	THBS2	6	169648658	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	137479964	169648658	1466409	40	116123											
MACC1	346389	broad.mit.edu	37	chr7	20198552	20198553	+	Frame_Shift_Del	DEL	TG	TG	-													atcaaacaagtgcatctctcTgtgctcaactaaagaaaata							TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr7:20198551_20198552CTG>C	uc003sus.4	-	4	1741_1742	c.1432_1433CAG>G	c.(1432-1434)agafs	p.R478fs	MACC1_uc010kug.3_Frame_Shift_Del_p.R478fs	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	478					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						GTGCATCTCTCTGTGCTCAACT	0.391													-	20198553	TG	-	20198552	7	5	229	1	0	1	0	1	0	0	0	0	9143	1588	55	0	1138	0	MACC1	7	20198552	Frame_Shift_Del	DEL	TG	TCGA-D7-A4YX-01A-11D-A25D-08		20198552	138940111	41	116124											
ABCB5	340273	broad.mit.edu	37	chr7	20668315	20668315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgttttcctcagttccGctttgctgatggactggaca	10	10	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr7:20668315G>A	uc010kuh.2	+	4	350	c.113G>A	c.(112-114)CGC>CAC	p.R38H		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CCTCAGTTCCGCTTTGCTGAT	0.483													A	20668315	G	A	20668315	3	1	229	1	0	0	0	0	1	0	0	0	44	1087	38	1	123	1	ABCB5	7	20668315	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	469763	20668315	138470348	42	116125											
EPHB4	2050	broad.mit.edu	37	chr7	100403165	100403165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaggctggcggggttcCggatcatcttgtccagggcg	16	9	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr7:100403165C>T	uc003uwn.1	-	15	3127	c.2636G>A	c.(2635-2637)CGG>CAG	p.R879Q	EPHB4_uc003uwm.1_Missense_Mutation_p.R786Q|EPHB4_uc010lhj.1_Missense_Mutation_p.R879Q	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	879	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCGGGGTTCCGGATCATCTT	0.657													T	100403165	C	T	100403165	3	4	229	1	0	0	0	0	1	0	0	0	5177	652	23	1	339	1	EPHB4	7	100403165	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	79734850	100403165	58735498	43	116126											
ARHGEF10	9639	broad.mit.edu	37	chr8	1900886	1900886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagggcaccagcggctgtCggtgacgagcctgctcgtct	14	15	1	1	rs145686019		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:1900886C>T	uc003wpr.2	+	28	3591	c.3413C>T	c.(3412-3414)TCG>TTG	p.S1138L	ARHGEF10_uc003wps.2_Missense_Mutation_p.S1100L|ARHGEF10_uc010lre.2_Missense_Mutation_p.S789L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1163					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			large_intestine(1)	1		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)		CAGCGGCTGTCGGTGACGAGC	0.642													T	1900886	C	T	1900886	3	4	229	1	0	0	0	0	1	0	0	0	894	893	31	1	3519	1	ARHGEF10	8	1900886	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		1900886	144463136	44	116127											
CSMD1	64478	broad.mit.edu	37	chr8	2820838	2820838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaccgtccatgcagctgtaActtatgctggagccccagcg	10	13	0	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:2820838A>G	uc011kwk.1	-	60	9753	c.9363T>C	c.(9361-9363)AGT>AGC	p.S3121S	CSMD1_uc011kwj.1_Silent_p.S2450S|CSMD1_uc010lrg.2_Silent_p.S1012S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3121	Sushi 25.|Extracellular (Potential).					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)		TGCAGCTGTAACTTATGCTGG	0.562													G	2820838	A	G	2820838	2	3	229	1	0	0	0	0	0	0	0	1	3944	40	2	3		3	CSMD1	8	2820838	Silent	SNP	A	TCGA-D7-A4YX-01A-11D-A25D-08	919952	2820838	143543184	45	116128											
PRSS55	203074	broad.mit.edu	37	chr8	10388948	10388948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccttgctgctgctggcttCgcccatcaagctcgatgacc	10	15	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:10388948C>T	uc003wta.2	+	3	506	c.491C>T	c.(490-492)TCG>TTG	p.S164L	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	164	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CTGCTGGCTTCGCCCATCAAG	0.577													T	10388948	C	T	10388948	3	4	229	1	0	0	0	0	1	0	0	0	12634	893	31	1	501	1	PRSS55	8	10388948	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	7568110	10388948	135975074	46	116129											
BHLHE22	27319	broad.mit.edu	37	chr8	65494237	65494237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactacatcctcatgcaggCgcaggccctggaggagatgc	13	12	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:65494237C>T	uc003xvi.2	+	1	1424	c.890C>T	c.(889-891)GCG>GTG	p.A297V	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	297	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CTCATGCAGGCGCAGGCCCTG	0.682													T	65494237	C	T	65494237	3	4	229	1	0	0	0	0	1	0	0	0	1421	768	27	1	892	1	BHLHE22	8	65494237	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	55105289	65494237	80869785	47	116130											
INTS8	55656	broad.mit.edu	37	chr8	95892417	95892417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagctggcagcgcagagAaggaaaaaaaagtttctcca	10	8	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:95892417A>G	uc003yhb.2	+	27	3069	c.2943A>G	c.(2941-2943)AGA>AGG	p.R981R	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.R791R	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	981					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					CAGCGCAGAGAAGGAAAAAAA	0.338													G	95892417	A	G	95892417	2	3	229	1	0	0	0	0	0	0	0	1	7784	243	9	3		3	INTS8	8	95892417	Silent	SNP	A	TCGA-D7-A4YX-01A-11D-A25D-08	30398180	95892417	50471605	48	116131											
NCALD	83988	broad.mit.edu	37	chr8	102705079	102705079	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttttctctggggttgactCatcttcaggcattttcatta	7	9	6	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:102705079C>T	uc003yke.2	-	3	793	c.424G>A	c.(424-426)GAG>AAG	p.E142K	NCALD_uc003ykf.2_Missense_Mutation_p.E142K|NCALD_uc003ykg.2_Missense_Mutation_p.E142K|NCALD_uc003ykh.2_Missense_Mutation_p.E142K|NCALD_uc003yki.2_Missense_Mutation_p.E142K|NCALD_uc003ykj.2_Missense_Mutation_p.E142K|NCALD_uc003ykk.2_Missense_Mutation_p.E142K|NCALD_uc003ykl.2_Missense_Mutation_p.E142K	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	142					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	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)			GGGGTTGACTCATCTTCAGGC	0.483													T	102705079	C	T	102705079	3	4	229	1	0	0	0	0	1	0	0	0	10201	835	29	4	165	4	NCALD	8	102705079	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	6812662	102705079	43658943	49	116132											
TAF1L	138474	broad.mit.edu	37	chr9	32633111	32633111	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaacctgtagaaagtctcGaatatgcatattggcccttc	7	9	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr9:32633111G>A	uc003zrg.1	-	1	2557	c.2467C>T	c.(2467-2469)CGA>TGA	p.R823*	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	823					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAAAGTCTCGAATATGCATA	0.423													A	32633111	G	A	32633111	4	1	229	1	0	0	0	0	0	1	0	0	15520	1066	37	1	3017	1	TAF1L	9	32633111	Nonsense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08		32633111	108580320	50	116133											
ADAMTS13	11093	broad.mit.edu	37	chr9	136310894	136310894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggggctcaagctgcacaCgtgtggacccctgcggcagg	16	13	1	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr9:136310894C>T	uc004cdv.3	+	21	3129	c.2685C>T	c.(2683-2685)CAC>CAT	p.H895H	ADAMTS13_uc004cdp.3_Silent_p.H122H|ADAMTS13_uc004cdt.1_Silent_p.H895H|ADAMTS13_uc004cdu.1_Silent_p.H864H|ADAMTS13_uc004cdw.3_Silent_p.H895H|ADAMTS13_uc004cdx.3_Silent_p.H864H|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Silent_p.H565H|ADAMTS13_uc004cds.1_Silent_p.H420H|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	895					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)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAGCTGCACACGTGTGGACCC	0.652													T	136310894	C	T	136310894	2	4	229	1	0	0	0	0	0	0	0	1	258	535	19	1		1	ADAMTS13	9	136310894	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	103677783	136310894	4902537	51	116134											
MTPAP	55149	broad.mit.edu	37	chr10	30611466	30611466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgctcgagcccagcacCgtacactgaacaccaaggct	9	14	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr10:30611466C>T	uc001iva.3	-	6	1136	c.1073G>A	c.(1072-1074)CGG>CAG	p.R358Q	MTPAP_uc001ivb.3_Missense_Mutation_p.R488Q	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	358					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			ovary(1)	1						AGCCCAGCACCGTACACTGAA	0.408													T	30611466	C	T	30611466	3	4	229	1	0	0	0	0	1	0	0	0	9956	652	23	1	691	1	MTPAP	10	30611466	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		30611466	104923281	52	116135											
ADO	84890	broad.mit.edu	37	chr10	64565194	64565194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgctcaaggtgctgtaCggcaccgtgcgcatcagctg	14	12	2	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr10:64565194C>T	uc001jmg.2	+	1	679	c.375C>T	c.(373-375)TAC>TAT	p.Y125Y		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	125							cysteamine dioxygenase activity|metal ion binding				0	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGTGCTGTACGGCACCGTGC	0.697													T	64565194	C	T	64565194	2	4	229	1	0	0	0	0	0	0	0	1	325	547	19	1		1	ADO	10	64565194	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	33953728	64565194	70969553	53	116136											
C11orf41	25758	broad.mit.edu	37	chr11	33689480	33689480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtacccccagagctctccctCcaggcttcctcgtcagtaca	7	18	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:33689480C>A	uc001mup.3	+	20	5472	c.5348C>A	c.(5347-5349)TCC>TAC	p.S1783Y		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1777						integral to membrane				ovary(2)	2						AGCTCTCCCTCCAGGCTTCCT	0.687													A	33689480	C	A	33689480	3	1	229	1	0	0	0	0	1	0	0	0	1640	855	30	5	5426	5	C11orf41	11	33689480	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		33689480	101317036	54	116137											
CELF1	10658	broad.mit.edu	37	chr11	47498889	47498889	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggggactgctggatgtagtGagagcattggtaccacttgg	16	6	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:47498889G>C	uc001nfl.2	-	8	862	c.852C>G	c.(850-852)CTC>CTG	p.L284L	CELF1_uc001nfm.2_Silent_p.L280L|CELF1_uc001nfn.2_Silent_p.L280L|CELF1_uc001nfo.1_Silent_p.L310L|CELF1_uc010rhm.1_Silent_p.L283L|CELF1_uc001nfp.2_Silent_p.L311L|CELF1_uc001nfq.1_Silent_p.L284L|CELF1_uc001nfr.1_Silent_p.L284L	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	284					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)|ovary(1)	3						TGGATGTAGTGAGAGCATTGG	0.488													C	47498889	G	C	47498889	2	2	229	1	0	0	0	0	0	0	0	1	3215	1277	45	5		5	CELF1	11	47498889	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	13809409	47498889	87507627	55	116138											
OR5T1	390155	broad.mit.edu	37	chr11	56043465	56043465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacagatgtttcttgcttgTacttttggaaccacagaatg	8	8	1	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:56043465T>C	uc001nio.1	+	1	351	c.351T>C	c.(349-351)TGT>TGC	p.C117C		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TTCTTGCTTGTACTTTTGGAA	0.403													C	56043465	T	C	56043465	2	2	229	1	0	0	0	0	0	0	0	1	11181	1644	57	3		3	OR5T1	11	56043465	Silent	SNP	T	TCGA-D7-A4YX-01A-11D-A25D-08	8544576	56043465	78963051	56	116139											
SERPING1	710	broad.mit.edu	37	chr11	57381834	57381834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttatgaccttaacctgtGtgggctgacagaggacccag	11	10	1	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:57381834G>A	uc001nkp.1	+	8	1474	c.1283G>A	c.(1282-1284)TGT>TAT	p.C428Y	SERPING1_uc001nkq.1_Missense_Mutation_p.C391Y|SERPING1_uc010rju.1_Missense_Mutation_p.C376Y|SERPING1_uc010rjv.1_Missense_Mutation_p.C433Y|SERPING1_uc001nkr.1_Missense_Mutation_p.C428Y|SERPING1_uc009ymi.1_Missense_Mutation_p.C437Y|SERPING1_uc009ymj.1_Missense_Mutation_p.V355M|SERPING1_uc001nks.1_Missense_Mutation_p.C119Y	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	428					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)	1						CTTAACCTGTGTGGGCTGACA	0.522									Hereditary_Angioedema				A	57381834	G	A	57381834	3	1	229	1	0	0	0	0	1	0	0	0	14116	1377	48	4	1309	4	SERPING1	11	57381834	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	1338369	57381834	77624682	57	116140											
INTS5	80789	broad.mit.edu	37	chr11	62416322	62416322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcatagctgtgtccacCaggaactgcagcaagcggta	13	11	0	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:62416322C>T	uc001nud.2	-	2	1283	c.1230G>A	c.(1228-1230)CTG>CTA	p.L410L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	410					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CTGTGTCCACCAGGAACTGCA	0.617													T	62416322	C	T	62416322	2	4	229	1	0	0	0	0	0	0	0	1	7781	581	21	4		4	INTS5	11	62416322	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	5034488	62416322	72590194	58	116141											
DRAP1	10589	broad.mit.edu	37	chr11	65688066	65688066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaggcagcggcggccGgaagaacggtgggatgggaa	20	8	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:65688066G>A	uc001ogj.1	+	5	601	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	119					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)		AGCGGCGGCCGGAAGAACGGT	0.652													A	65688066	G	A	65688066	3	1	229	1	0	0	0	0	1	0	0	0	4755	1116	39	1	374	1	DRAP1	11	65688066	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	3271744	65688066	69318450	59	116142											
PDE2A	5138	broad.mit.edu	37	chr11	72295692	72295692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcggatgggcatatgcGtcagggatgttcaggatctg	15	6	3	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:72295692G>A	uc010rrc.1	-	18	1683	c.1440C>T	c.(1438-1440)GAC>GAT	p.D480D	PDE2A_uc001oso.2_Silent_p.D459D|PDE2A_uc010rra.1_Silent_p.D473D|PDE2A_uc001osn.2_Silent_p.D224D|PDE2A_uc010rrb.1_Silent_p.D471D|PDE2A_uc010rrd.1_Silent_p.D365D	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	480	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGGCATATGCGTCAGGGATGT	0.627													A	72295692	G	A	72295692	2	1	229	1	0	0	0	0	0	0	0	1	11636	1136	40	1		1	PDE2A	11	72295692	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	6607626	72295692	62710824	60	116143											
GRAMD1B	57476	broad.mit.edu	37	chr11	123481039	123481039	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggctcggaacaagagcCgactcaggtgtggtgtgtgg	18	7	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:123481039C>T	uc001pyx.2	+	13	1812	c.1483C>T	c.(1483-1485)CGA>TGA	p.R495*	GRAMD1B_uc001pyw.2_Nonsense_Mutation_p.R502*|GRAMD1B_uc010rzw.1_Nonsense_Mutation_p.R455*|GRAMD1B_uc010rzx.1_Nonsense_Mutation_p.R455*|GRAMD1B_uc001pyy.2_Nonsense_Mutation_p.R186*	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	495						integral to membrane				ovary(1)	1		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)		GAACAAGAGCCGACTCAGGTG	0.567													T	123481039	C	T	123481039	4	4	229	1	0	0	0	0	0	1	0	0	6748	644	23	1	1533	1	GRAMD1B	11	123481039	Nonsense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	51185347	123481039	11525477	61	116144											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341220	130341220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agagattcgacaagtgtgggGtgtgtgggggagacaataag	18	3	0	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:130341220G>C	uc010scd.1	+	7	2020	c.2020G>C	c.(2020-2022)GTG>CTG	p.V674L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	674	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	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)		CAAGTGTGGGGTGTGTGGGGG	0.567													C	130341220	G	C	130341220	3	2	229	1	0	0	0	0	1	0	0	0	260	1261	44	5	2046	5	ADAMTS15	11	130341220	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	6860181	130341220	4665296	62	116145											
OPCML	4978	broad.mit.edu	37	chr11	133402180	133402180	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgaagagcagggcagTtgtcgccgagaagacgaccc	16	9	0	4			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:133402180T>A	uc001qgu.2	-	1	224	c.40A>T	c.(40-42)ACT>TCT	p.T14S		NM_001012393	NP_001012393	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	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)		AGCAGGGCAGTTGTCGCCGAG	0.517													A	133402180	T	A	133402180	3	1	229	1	0	0	0	0	1	0	0	0	10874	1725	60	5	1090	5	OPCML	11	133402180	Missense_Mutation	SNP	T	TCGA-D7-A4YX-01A-11D-A25D-08	3060960	133402180	1604336	63	116146											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6442257	6442257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actacaggagacacactcgtTttctcttagaaagaaacctg	7	10	1	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:6442257T>C	uc001qnu.2	-	5	810	c.529A>G	c.(529-531)AAC>GAC	p.N177D	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.N69D|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Missense_Mutation_p.N69D|TNFRSF1A_uc009zek.2_Missense_Mutation_p.N134D|TNFRSF1A_uc010sfa.1_Missense_Mutation_p.N177D	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	177	TNFR-Cys 4.|Extracellular (Potential).				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			lung(2)|skin(1)	3						ACACACTCGTTTTCTCTTAGA	0.547													C	6442257	T	C	6442257	3	2	229	1	0	0	0	0	1	0	0	0	16290	1841	64	3	862	3	TNFRSF1A	12	6442257	Missense_Mutation	SNP	T	TCGA-D7-A4YX-01A-11D-A25D-08		6442257	127409638	64	116147											
CD163L1	283316	broad.mit.edu	37	chr12	7585200	7585200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggacatcctagttgcctgCacaccacggcagcagtattc	9	13	0	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:7585200C>A	uc001qsy.2	-	4	604	c.578G>T	c.(577-579)TGC>TTC	p.C193F	CD163L1_uc010sge.1_Missense_Mutation_p.C203F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	193	SRCR 2.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TAGTTGCCTGCACACCACGGC	0.473													A	7585200	C	A	7585200	3	1	229	1	0	0	0	0	1	0	0	0	2968	710	25	5	3847	5	CD163L1	12	7585200	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	1142943	7585200	126266695	65	116148											
GRIN2B	2904	broad.mit.edu	37	chr12	13716623	13716623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacgccgtgtttgtcgccCgtcccgtgcttgatgtgaga	12	13	0	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:13716623C>T	uc001rbt.2	-	13	3728	c.3549G>A	c.(3547-3549)ACG>ACA	p.T1183T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1183	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617													T	13716623	C	T	13716623	2	4	229	1	0	0	0	0	0	0	0	1	6780	639	23	1		1	GRIN2B	12	13716623	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	6131423	13716623	120135272	66	116149											
E2F7	144455	broad.mit.edu	37	chr12	77417809	77417809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggttagtcagcgccgcCgctggggatttctagtctcc	14	12	3	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:77417809C>T	uc001sym.3	-	13	2958	c.2722G>A	c.(2722-2724)GGC>AGC	p.G908S	E2F7_uc009zse.2_3'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	908					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TCAGCGCCGCCGCTGGGGATT	0.612													T	77417809	C	T	77417809	3	4	229	1	0	0	0	0	1	0	0	0	4872	652	23	1	17	1	E2F7	12	77417809	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	63701186	77417809	56434086	67	116150											
RFC3	5983	broad.mit.edu	37	chr13	34409298	34409298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgtaggctccttgaagttCgtggaaggctgtatgagctt	13	6	0	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:34409298C>T	uc001uuz.2	+	8	933	c.823C>T	c.(823-825)CGT>TGT	p.R275C	RFC3_uc001uva.2_Missense_Mutation_p.R275C|RFC3_uc010ted.1_Missense_Mutation_p.R275C	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	275					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				0		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)		CCTTGAAGTTCGTGGAAGGCT	0.313													T	34409298	C	T	34409298	3	4	229	1	0	0	0	0	1	0	0	0	13246	884	31	1	853	1	RFC3	13	34409298	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		34409298	80760580	68	116151											
STOML3	161003	broad.mit.edu	37	chr13	39544507	39544507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctacctgagtagttaCggagtctctggtgaggatct	11	9	3	2	rs34402894	byFrequency	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:39544507C>T	uc001uwx.2	-	5	469	c.331G>A	c.(331-333)GTA>ATA	p.V111I	STOML3_uc010tez.1_Missense_Mutation_p.V102I	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	111	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		TGAGTAGTTACGGAGTCTCTG	0.453													T	39544507	C	T	39544507	3	4	229	1	0	0	0	0	1	0	0	0	15314	536	19	1	556	1	STOML3	13	39544507	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	5135209	39544507	75625371	69	116152											
PCDH8	5100	broad.mit.edu	37	chr13	53421999	53421999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggtctgcgcactgagcGccgtccgctcgcgtctgcag	13	16	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:53421999G>A	uc001vhi.2	-	1	776	c.573C>T	c.(571-573)GGC>GGT	p.G191G	PCDH8_uc001vhj.2_Silent_p.G191G	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	191	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		CGCACTGAGCGCCGTCCGCTC	0.746													A	53421999	G	A	53421999	2	1	229	1	0	0	0	0	0	0	0	1	11517	1074	38	1		1	PCDH8	13	53421999	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	13877492	53421999	61747879	70	116153											
PCDH9	5101	broad.mit.edu	37	chr13	67799808	67799808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgttgttggaggtgccGggccccagtcaaatcttcct	12	10	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:67799808G>A	uc001vik.2	-	2	3457	c.2765C>T	c.(2764-2766)CCG>CTG	p.P922L	PCDH9_uc001vil.2_Missense_Mutation_p.P922L|PCDH9_uc010thl.1_Missense_Mutation_p.P922L|PCDH9_uc001vin.3_Missense_Mutation_p.P922L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	922	Cytoplasmic (Potential).			P -> S (in Ref. 2; CAD97664).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGAGGTGCCGGGCCCCAGTC	0.502													A	67799808	G	A	67799808	3	1	229	1	0	0	0	0	1	0	0	0	11518	1116	39	1	964	1	PCDH9	13	67799808	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	14377809	67799808	47370070	71	116154											
TFDP1	7027	broad.mit.edu	37	chr13	114265370	114265370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaccagaaccttagtccCgggaaaggtaagggcacctg	12	10	0	2	rs144432965	byFrequency	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:114265370C>T	uc001vtw.2	+	3	284	c.72C>T	c.(70-72)CCC>CCT	p.P24P	TFDP1_uc010tkd.1_5'UTR|TFDP1_uc010tke.1_5'UTR|TFDP1_uc001vty.3_Silent_p.P24P|TFDP1_uc010agx.2_Silent_p.P24P	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACCTTAGTCCCGGGAAAGGTA	0.443										TSP Lung(29;0.18)			T	114265370	C	T	114265370	2	4	229	1	0	0	0	0	0	0	0	1	15794	639	23	1		1	TFDP1	13	114265370	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	46465562	114265370	904508	72	116155											
PCNX	22990	broad.mit.edu	37	chr14	71542925	71542925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtatcatttattatgttaCgacctcgtctaagctagagg	10	7	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr14:71542925C>T	uc001xmo.2	+	28	5572	c.5126C>T	c.(5125-5127)ACG>ATG	p.T1709M	PCNX_uc010are.1_Missense_Mutation_p.T1598M|PCNX_uc010arf.1_Missense_Mutation_p.T497M	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1709						integral to membrane				ovary(1)	1			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)		TATTATGTTACGACCTCGTCT	0.358													T	71542925	C	T	71542925	3	4	229	1	0	0	0	0	1	0	0	0	11591	536	19	1	5236	1	PCNX	14	71542925	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		71542925	35806615	73	116156											
SLC24A4	123041	broad.mit.edu	37	chr14	92908491	92908491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggctgcaggaagctcaaCgccagagctgtttgcgtctg	13	11	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr14:92908491C>T	uc001yak.2	+	5	425	c.401C>T	c.(400-402)ACG>ATG	p.T134M	SLC24A4_uc001yai.2_Missense_Mutation_p.T87M|SLC24A4_uc010twm.1_Missense_Mutation_p.T151M|SLC24A4_uc001yaj.2_Missense_Mutation_p.T134M|SLC24A4_uc010auj.2_Missense_Mutation_p.T42M|SLC24A4_uc010twn.1_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	151	Cytoplasmic (Potential).|Alpha-1.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		GGAAGCTCAACGCCAGAGCTG	0.552													T	92908491	C	T	92908491	3	4	229	1	0	0	0	0	1	0	0	0	14468	536	19	1	419	1	SLC24A4	14	92908491	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	21365566	92908491	14441049	74	116157											
FBN1	2200	broad.mit.edu	37	chr15	48782211	48782211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtccatgcggtggcgGccagcaataggcagggtgca	17	11	0	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr15:48782211G>A	uc001zwx.1	-	25	3247	c.2919C>T	c.(2917-2919)GGC>GGT	p.G973G		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	973	TB 5.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCGGTGGCGGCCAGCAATAG	0.587													A	48782211	G	A	48782211	2	1	229	1	0	0	0	0	0	0	0	1	5702	1190	42	2		2	FBN1	15	48782211	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08		48782211	53749181	75	116158											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459375	92459375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgcgcctgatcggctgCggcggcatcgtcatggcgct	16	15	1	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr15:92459375C>T	uc002bqx.2	+	2	534	c.333C>T	c.(331-333)TGC>TGT	p.C111C	SLCO3A1_uc002bqy.2_Silent_p.C111C|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.C53C	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	111	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGATCGGCTGCGGCGGCATCG	0.692													T	92459375	C	T	92459375	2	4	229	1	0	0	0	0	0	0	0	1	14728	776	27	1		1	SLCO3A1	15	92459375	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	43677164	92459375	10072017	76	116159											
KCNG4	93107	broad.mit.edu	37	chr16	84256365	84256365	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggatgcgcagcgctcGcagcacacgcaggaccagcc	14	14	0	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr16:84256365G>A	uc010voc.1	-	3	1139	c.1018C>T	c.(1018-1020)CGA>TGA	p.R340*		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	340	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CGCAGCGCTCGCAGCACACGC	0.697													A	84256365	G	A	84256365	4	1	229	1	0	0	0	0	0	1	0	0	8030	1095	38	1	543	1	KCNG4	16	84256365	Nonsense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08		84256365	6098388	77	116160											
USP22	23326	broad.mit.edu	37	chr17	20911279	20911279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcacttgatcttggcGctgctgcccaagtgctctgg	12	14	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr17:20911279G>A	uc002gym.3	-	9	1338	c.1134C>T	c.(1132-1134)AGC>AGT	p.S378S	USP22_uc002gyn.3_Silent_p.S366S|USP22_uc002gyl.3_Silent_p.S273S	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	378					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						TGATCTTGGCGCTGCTGCCCA	0.488													A	20911279	G	A	20911279	2	1	229	1	0	0	0	0	0	0	0	1	17051	1078	38	1		1	USP22	17	20911279	Silent	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08		20911279	60283931	78	116161											
DHX58	79132	broad.mit.edu	37	chr17	40263479	40263479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtccatccagcatgcGcctgaactcttcaccatgct	7	17	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr17:40263479G>A	uc002hyw.3	-	4	428	c.205C>T	c.(205-207)CGC>TGC	p.R69C	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R62C	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	69	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAGCATGCGCCTGAACTCT	0.622													A	40263479	G	A	40263479	3	1	229	1	0	0	0	0	1	0	0	0	4514	1087	38	1	1875	1	DHX58	17	40263479	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	19352200	40263479	40931731	79	116162											
RNF157	114804	broad.mit.edu	37	chr17	74169807	74169807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagcctcagtgtgtcctttCggatattgaccaggcttctc	10	12	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr17:74169807C>T	uc002jqz.2	-	3	341	c.272G>A	c.(271-273)CGA>CAA	p.R91Q	RNF157_uc002jra.2_Missense_Mutation_p.R91Q	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	91							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TGTGTCCTTTCGGATATTGAC	0.582													T	74169807	C	T	74169807	3	4	229	1	0	0	0	0	1	0	0	0	13454	884	31	1	1835	1	RNF157	17	74169807	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	33906328	74169807	7025403	80	116163											
LAMA1	284217	broad.mit.edu	37	chr18	6975032	6975032	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catctccactgcaaggaaatCagactggggggcgaggaatg	14	9	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr18:6975032C>G	uc002knm.2	-	46	6587	c.6493G>C	c.(6493-6495)GAT>CAT	p.D2165H	LAMA1_uc010wzj.1_Missense_Mutation_p.D1641H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2165	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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAAGGAAATCAGACTGGGGG	0.537													G	6975032	C	G	6975032	3	3	229	1	0	0	0	0	1	0	0	0	8605	826	29	5	2806	5	LAMA1	18	6975032	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		6975032	71102216	81	116164											
C18orf34	374864	broad.mit.edu	37	chr18	30672724	30672724	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaattagaaaaaccaataCctgtttcttatctctaattg	3	8	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr18:30672724C>A	uc002kxn.2	-	20	2530	c.2388_splice	c.e20+1	p.Q796_splice	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Splice_Site_p.Q796_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.Q758_splice|C18orf34_uc002kxp.2_Splice_Site_p.Q796_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1											ovary(1)	1						AAAACCAATACCTGTTTCTTA	0.299													A	30672724	C	A	30672724	5	1	229	1	0	0	0	0	0	0	1	0	1902	521	18	5	226	5	C18orf34	18	30672724	Splice_Site	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	23697692	30672724	47404524	82	116165											
RYR1	6261	broad.mit.edu	37	chr19	38985210	38985210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcggccagatccgctcgCtgctcatcgtgcagatgggc	13	15	1	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr19:38985210C>T	uc002oit.2	+	39	6623	c.6493C>T	c.(6493-6495)CTG>TTG	p.L2165L	RYR1_uc002oiu.2_Silent_p.L2165L|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2165	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATCCGCTCGCTGCTCATCGT	0.632													T	38985210	C	T	38985210	2	4	229	1	0	0	0	0	0	0	0	1	13768	796	28	2		2	RYR1	19	38985210	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		38985210	20143773	83	116166											
SELV	348303	broad.mit.edu	37	chr19	40006439	40006439	+	Frame_Shift_Del	DEL	C	C	-													ggggccccttcccacgcgcaCcccgctggccgcgaactcac							TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr19:40006439delC	uc010xvc.1	+	1	687	c.587delC	c.(586-588)ACCfs	p.T196fs		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	196					cell redox homeostasis		selenium binding				0	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;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCACGCGCACCCCGCTGGCC	0.617													-	40006439	C	-	40006439	7	5	229	1	0	1	0	1	0	0	0	0	14023	507	18	0	589	0	SELV	19	40006439	Frame_Shift_Del	DEL	C	TCGA-D7-A4YX-01A-11D-A25D-08	1021229	40006439	19122544	84	116167											
GALP	85569	broad.mit.edu	37	chr19	56693573	56693573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatgggtgaccaagacGgaaagagggagacagccctt	13	10	0	4			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr19:56693573G>A	uc002qmo.1	+	4	251	c.169G>A	c.(169-171)GGA>AGA	p.G57R	GALP_uc010eti.2_Silent_p.T40T	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	57					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGACCAAGACGGAAAGAGGGA	0.567													A	56693573	G	A	56693573	3	1	229	1	0	0	0	0	1	0	0	0	6226	1117	39	1	179	1	GALP	19	56693573	Missense_Mutation	SNP	G	TCGA-D7-A4YX-01A-11D-A25D-08	16687134	56693573	2435410	85	116168											
TGM3	7053	broad.mit.edu	37	chr20	2308983	2308983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaatgctcgcatggaCgtcacggacaagtacaagta	12	10	1	0			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr20:2308983C>T	uc002wfx.3	+	9	1402	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	435					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			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CTCGCATGGACGTCACGGACA	0.577													T	2308983	C	T	2308983	2	4	229	1	0	0	0	0	0	0	0	1	15828	535	19	1		1	TGM3	20	2308983	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		2308983	60716537	86	116169											
PRPF6	24148	broad.mit.edu	37	chr20	62642823	62642823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacctcgctgcgggccaaCggtgtggagatcaaccgtga	13	12	2	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr20:62642823C>T	uc002yho.2	+	11	1659	c.1491C>T	c.(1489-1491)AAC>AAT	p.N497N	PRPF6_uc002yhp.2_Silent_p.N497N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	497					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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGCGGGCCAACGGTGTGGAGA	0.592													T	62642823	C	T	62642823	2	4	229	1	0	0	0	0	0	0	0	1	12574	535	19	1		1	PRPF6	20	62642823	Silent	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	60333840	62642823	382697	87	116170											
CLDN17	26285	broad.mit.edu	37	chr21	31538677	31538677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaggagagagcaacagCcacacacatgagggcccggg	14	11	1	2			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr21:31538677C>T	uc011acv.1	-	1	259	c.259G>A	c.(259-261)GCT>ACT	p.A87T		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	87	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						AGAGCAACAGCCACACACATG	0.572													T	31538677	C	T	31538677	3	4	229	1	0	0	0	0	1	0	0	0	3478	739	26	2	419	2	CLDN17	21	31538677	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		31538677	16591218	88	116171											
FIGF	2277	broad.mit.edu	37	chrX	15402066	15402066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactacccactctctgtaCattttgaatatttcaatatc	2	12	2	1			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chrX:15402066C>T	uc004cwt.1	-	1	512	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	1					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			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					ACTCTCTGTACATTTTGAATA	0.418													T	15402066	C	T	15402066	3	4	229	1	0	0	0	0	1	0	0	0	5889	478	17	4	1089	4	FIGF	23	15402066	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08		15402066	139868494	89	116172											
SHROOM4	57477	broad.mit.edu	37	chrX	50350385	50350385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatatgtacttacttggCggattcagtggcttcctgtc	9	9	2	0	rs143812034		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chrX:50350385C>T	uc004dpe.2	-	6	3783	c.3757G>A	c.(3757-3759)GCC>ACC	p.A1253T	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1253	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					ACTTACTTGGCGGATTCAGTG	0.313													T	50350385	C	T	50350385	3	4	229	1	0	0	0	0	1	0	0	0	14296	768	27	1	740	1	SHROOM4	23	50350385	Missense_Mutation	SNP	C	TCGA-D7-A4YX-01A-11D-A25D-08	34948319	50350385	104920175	90	116173											
WDR44	54521	broad.mit.edu	37	chrX	117575479	117575479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatggcaaatatgcagTgattgggacatatgatggca	12	5	1	3			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chrX:117575479T>C	uc004eqn.2	+	15	2548	c.2123T>C	c.(2122-2124)GTG>GCG	p.V708A	WDR44_uc004eqo.2_Missense_Mutation_p.V708A|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Missense_Mutation_p.V418A	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	708	WD 4.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						AAATATGCAGTGATTGGGACA	0.323													C	117575479	T	C	117575479	3	2	229	1	0	0	0	0	1	0	0	0	17293	1696	59	3	2181	3	WDR44	23	117575479	Missense_Mutation	SNP	T	TCGA-D7-A4YX-01A-11D-A25D-08	67225094	117575479	37695081	91	116174											
ACOT7	11332	broad.mit.edu	37	chr1	6409812	6409812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcccagacccttaccccGttctggctgttgcaatgccg	12	15	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:6409812G>A	uc001ams.2	-	2	445	c.288C>T	c.(286-288)AAC>AAT	p.N96N	ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Silent_p.N86N|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.N45N|ACOT7_uc001amr.2_Silent_p.N66N	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	96	Acyl coenzyme A hydrolase 1.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CCCTTACCCCGTTCTGGCTGT	0.642													A	6409812	G	A	6409812	2	1	230	1	0	0	0	0	0	0	0	1	155	1136	40	1		1	ACOT7	1	6409812	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		6409812	242840809	1	116175											
SLC45A1	50651	broad.mit.edu	37	chr1	8384692	8384692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcatcgagttcagctaCgccatggagacggcgtacgt	13	10	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:8384692C>T	uc001apb.2	+	1	303	c.303C>T	c.(301-303)TAC>TAT	p.Y101Y		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	101	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	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)		AGTTCAGCTACGCCATGGAGA	0.632													T	8384692	C	T	8384692	2	4	230	1	0	0	0	0	0	0	0	1	14640	547	19	1		1	SLC45A1	1	8384692	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1974880	8384692	240865929	2	116176											
CASZ1	54897	broad.mit.edu	37	chr1	10720568	10720568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcatggtggaggccgcGtagtcccgcagcgaggaggc	18	11	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:10720568G>A	uc001aro.2	-	6	851	c.531C>T	c.(529-531)TAC>TAT	p.Y177Y	CASZ1_uc001arp.1_Silent_p.Y177Y|CASZ1_uc009vmx.2_Silent_p.Y201Y|CASZ1_uc001arq.1_Silent_p.Y36Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		TGGAGGCCGCGTAGTCCCGCA	0.652													A	10720568	G	A	10720568	2	1	230	1	0	0	0	0	0	0	0	1	2685	1140	40	1		1	CASZ1	1	10720568	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2335876	10720568	238530053	3	116177											
EXOSC10	5394	broad.mit.edu	37	chr1	11141285	11141285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgtagctgagcatctcctCgggcagagggctggaattgc	16	10	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:11141285C>T	uc001asa.2	-	11	1341	c.1291G>A	c.(1291-1293)GAG>AAG	p.E431K	EXOSC10_uc001asb.2_Missense_Mutation_p.E431K|EXOSC10_uc009vmy.1_Missense_Mutation_p.E431K	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	431					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			upper_aerodigestive_tract(1)	1	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)		AGCATCTCCTCGGGCAGAGGG	0.527													T	11141285	C	T	11141285	3	4	230	1	0	0	0	0	1	0	0	0	5314	893	31	1	1426	1	EXOSC10	1	11141285	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	420717	11141285	238109336	4	116178											
TMEM51	55092	broad.mit.edu	37	chr1	15545912	15545913	+	Frame_Shift_Ins	INS	-	-	A													acacaaactactcagaagcaINSaggggagaggagcagaaccc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:15545911_15545912C>CA	uc001avw.4	+	3	953_954	c.434_435C>CA	c.(433-435)gcafs	p.A145fs	TMEM51_uc010obk.2_Frame_Shift_Ins_p.A145fs|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Frame_Shift_Ins_p.A145fs|TMEM51_uc001avx.3_Frame_Shift_Ins_p.A145fs	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	145						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)		TACTCAGAAGCAAGGGGAGAGG	0.564													A	15545913	-	A	15545912	7	5	230	1	0	1	1	0	0	0	0	0	16174	117	5	0	441	0	TMEM51	1	15545912	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	4404627	15545912	233704709	5	116179											
SPEN	23013	broad.mit.edu	37	chr1	16199321	16199321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttccagatatggccgcGtggaaagtgtcaaaattctt	9	7	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:16199321G>A	uc001axk.1	+	2	298	c.94G>A	c.(94-96)GTG>ATG	p.V32M	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	32	By similarity.|RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		ATATGGCCGCGTGGAAAGTGT	0.383													A	16199321	G	A	16199321	3	1	230	1	0	0	0	0	1	0	0	0	15037	1145	40	1	100	1	SPEN	1	16199321	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	653409	16199321	233051300	6	116180											
SPEN	23013	broad.mit.edu	37	chr1	16254696	16254696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggactatccagctcgagGgagagagttttattcagaat	13	7	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:16254696G>A	uc001axk.1	+	11	2165	c.1961G>A	c.(1960-1962)GGG>GAG	p.G654E	SPEN_uc010obp.1_Missense_Mutation_p.G613E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	654	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		CCAGCTCGAGGGAGAGAGTTT	0.453													A	16254696	G	A	16254696	3	1	230	1	0	0	0	0	1	0	0	0	15037	1232	43	4	2003	4	SPEN	1	16254696	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	55375	16254696	232995925	7	116181											
RNF186	54546	broad.mit.edu	37	chr1	20141050	20141050	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgatgatgaaggtgAgcacccatcgtaagacaccc	12	12	0	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:20141050A>T	uc001bcr.2	-	1	722	c.545T>A	c.(544-546)CTC>CAC	p.L182H		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	ring finger protein 186	182	Helical; (Potential).					integral to membrane	zinc ion binding				0		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;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAAGGTGAGCACCCATCG	0.647													T	20141050	A	T	20141050	3	4	230	1	0	0	0	0	1	0	0	0	13469	304	11	5	142	5	RNF186	1	20141050	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	3886354	20141050	229109571	8	116182											
ALPL	249	broad.mit.edu	37	chr1	21900205	21900205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagctgaacaggaacaacGtgacggacccgtcactctcc	10	14	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:21900205G>A	uc001bet.2	+	9	1167	c.910G>A	c.(910-912)GTG>ATG	p.V304M	ALPL_uc010odn.1_Missense_Mutation_p.V252M|ALPL_uc010odo.1_Missense_Mutation_p.V249M|ALPL_uc010odp.1_Missense_Mutation_p.V227M|ALPL_uc001beu.3_Missense_Mutation_p.V304M	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	304					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CAGGAACAACGTGACGGACCC	0.607													A	21900205	G	A	21900205	3	1	230	1	0	0	0	0	1	0	0	0	547	1145	40	1	940	1	ALPL	1	21900205	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1759155	21900205	227350416	9	116183											
WNT4	54361	broad.mit.edu	37	chr1	22447972	22447972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcactgtcctgtcacaGccgcacttctccagctcccc	6	20	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:22447972G>A	uc001bfs.3	-	3	515	c.411C>T	c.(409-411)GGC>GGT	p.G137G	WNT4_uc010odt.1_Silent_p.G74G	NM_030761	NP_110388	P56705	WNT4_HUMAN	wingless-type MMTV integration site family,	137					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			ovary(1)	1		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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCTGTCACAGCCGCACTTCT	0.672													A	22447972	G	A	22447972	2	1	230	1	0	0	0	0	0	0	0	1	17387	958	34	2		2	WNT4	1	22447972	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	547767	22447972	226802649	10	116184											
EPHA8	2046	broad.mit.edu	37	chr1	22920095	22920095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcctcaagccgggcaccCgctacgtgttccaggtccga	12	17	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:22920095C>T	uc001bfx.1	+	7	1644	c.1519C>T	c.(1519-1521)CGC>TGC	p.R507C		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	507	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GCCGGGCACCCGCTACGTGTT	0.672													T	22920095	C	T	22920095	3	4	230	1	0	0	0	0	1	0	0	0	5173	652	23	1	1718	1	EPHA8	1	22920095	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	472123	22920095	226330526	11	116185											
NIPAL3	57185	broad.mit.edu	37	chr1	24766677	24766677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggaaaacctgattggcGccctcttggcgatcttcggg	12	11	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:24766677G>A	uc001bjh.2	+	3	516	c.109G>A	c.(109-111)GCC>ACC	p.A37T	NIPAL3_uc010oek.1_Missense_Mutation_p.A37T|NIPAL3_uc001bjg.2_Missense_Mutation_p.A37T|NIPAL3_uc009vrc.2_5'UTR	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	37	Helical; (Potential).					integral to membrane					0						CCTGATTGGCGCCCTCTTGGC	0.537													A	24766677	G	A	24766677	3	1	230	1	0	0	0	0	1	0	0	0	10426	1087	38	1	115	1	NIPAL3	1	24766677	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1846582	24766677	224483944	12	116186											
EXTL1	2134	broad.mit.edu	37	chr1	26349533	26349534	+	In_Frame_Ins	INS	-	-	CCT													tcagccctgctggggcctgcINSctcctcctcctcctcagcct							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:26349532_26349533G>GCCT	uc001blf.3	+	0	1262_1263	c.395_396G>GCCT	c.(394-396)tgc>tGCCT	p.C132C		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	132					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)		GCTGGGGCCTGCCTCCTCCTCC	0.599													CCT	26349534	-	CCT	26349533	7	5	230	1	0	1	1	0	0	0	0	0	5325	747	26	0	398	0	EXTL1	1	26349533	In_Frame_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1582856	26349533	222901088	13	116187											
SLC9A1	6548	broad.mit.edu	37	chr1	27432576	27432576	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaggtcaggcccagcaCccctgcaggggaaggcaggg	16	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:27432576C>G	uc001bnm.2	-	5	1911	c.1285G>C	c.(1285-1287)GTG>CTG	p.V429L	SLC9A1_uc001bnl.2_5'Flank|SLC9A1_uc010ofk.1_Missense_Mutation_p.V90L|SLC9A1_uc001bnn.2_Missense_Mutation_p.V429L	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	429	Helical; Name=M10; (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				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)	AGGCCCAGCACCCCTGCAGGG	0.602													G	27432576	C	G	27432576	3	3	230	1	0	0	0	0	1	0	0	0	14709	507	18	5	1194	5	SLC9A1	1	27432576	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1083043	27432576	221818045	14	116188											
SYTL1	84958	broad.mit.edu	37	chr1	27680310	27680310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgggtggatggccttctAcccctcagaaccaacctggc	11	13	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:27680310A>G	uc001bnw.1	+	15	1823	c.1656A>G	c.(1654-1656)CTA>CTG	p.L552L	SYTL1_uc001bnv.1_Silent_p.L540L|SYTL1_uc009vsu.1_Silent_p.L487L|SYTL1_uc009vsv.1_Silent_p.L552L	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	552					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		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)		ATGGCCTTCTACCCCTCAGAA	0.607													G	27680310	A	G	27680310	2	3	230	1	0	0	0	0	0	0	0	1	15479	378	14	3		3	SYTL1	1	27680310	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	247734	27680310	221570311	15	116189											
COL16A1	1307	broad.mit.edu	37	chr1	32157042	32157043	+	Frame_Shift_Ins	INS	-	-	G													tcccaggcagtcctatcccaINSgggggtccagggaggccggg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:32157042_32157043insG	uc001btk.1	-	19	1738_1739	c.1373_1374insC	c.(1372-1374)CCTfs	p.P458fs	COL16A1_uc001btj.1_Frame_Shift_Ins_p.P287fs|COL16A1_uc001btl.3_Frame_Shift_Ins_p.P458fs	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	458	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCCTATCCCAGGGGGTCCAGG	0.653													G	32157043	-	G	32157042	7	5	230	1	0	1	1	0	0	0	0	0	3673	175	7	0	3652	0	COL16A1	1	32157042	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	4476732	32157042	217093579	16	116190	546	2									
COL16A1	1307	broad.mit.edu	37	chr1	32157043	32157044	+	Frame_Shift_Ins	INS	-	-	G													cccaggcagtcctatcccagINSggggtccagggaggccgggg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:32157042_32157043A>AG	uc001btk.1	-	18	1738_1739	c.1373_1374T>CT	c.(1372-1374)cctfs	p.P458fs	COL16A1_uc001btj.1_Frame_Shift_Ins_p.P287fs|COL16A1_uc001btl.4_Frame_Shift_Ins_p.P458fs	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	458	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)		GTCCTATCCCAGGGGGTCCAGG	0.653													G	32157044	-	G	32157043	7	5	230	1	0	1	1	0	0	0	0	0	3673	1000	35	0	3653	0	COL16A1	1	32157043	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	32157043	217093578	17	116191	546	2									
CCDC30	728621	broad.mit.edu	37	chr1	43055135	43055135	+	Frame_Shift_Del	DEL	A	A	-													acttaaacaactggaaaatgAaaaaagaaaatatgatgagg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:43055135delA	uc009vwk.1	+	9	1474	c.1364delA	c.(1363-1365)GAAfs	p.E455fs	CCDC30_uc001chm.2_Frame_Shift_Del_p.E153fs|CCDC30_uc001chn.2_Frame_Shift_Del_p.E244fs|CCDC30_uc001chp.2_Frame_Shift_Del_p.E269fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	455	Potential.										0						CTGGAAAATGAAAAAAGAAAA	0.343													-	43055135	A	-	43055135	7	5	230	1	0	1	0	1	0	0	0	0	2805	246	9	0	1394	0	CCDC30	1	43055135	Frame_Shift_Del	DEL	A	TCGA-D7-A4YY-01A-11D-A25D-08	10898092	43055135	206195486	18	116192											
PTPRF	5792	broad.mit.edu	37	chr1	44086837	44086837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcatgcgctacgagggCgtggtcgacatgtttcagac	15	10	1	1	rs138441028		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:44086837C>T	uc001cjr.2	+	33	5929	c.5589C>T	c.(5587-5589)GGC>GGT	p.G1863G	PTPRF_uc001cjs.2_Silent_p.G1854G|PTPRF_uc001cju.2_Silent_p.G1252G|PTPRF_uc009vwt.2_Silent_p.G1423G|PTPRF_uc001cjv.2_Silent_p.G1334G|PTPRF_uc001cjw.2_Silent_p.G1089G	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1863	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTACGAGGGCGTGGTCGACA	0.622													T	44086837	C	T	44086837	2	4	230	1	0	0	0	0	0	0	0	1	12801	755	27	1		1	PTPRF	1	44086837	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1031702	44086837	205163784	19	116193											
DMAP1	55929	broad.mit.edu	37	chr1	44685093	44685093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctgttcctgagactGcaggcatcaagtttccagac	10	13	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:44685093G>A	uc001clq.1	+	8	1002	c.922G>A	c.(922-924)GCA>ACA	p.A308T	DMAP1_uc001clr.1_Missense_Mutation_p.A308T|DMAP1_uc001cls.1_Missense_Mutation_p.A308T|DMAP1_uc010oku.1_Missense_Mutation_p.A298T	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	308					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				0	Acute lymphoblastic leukemia(166;0.155)					TCCTGAGACTGCAGGCATCAA	0.572													A	44685093	G	A	44685093	3	1	230	1	0	0	0	0	1	0	0	0	4576	1319	46	2	948	2	DMAP1	1	44685093	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	598256	44685093	204565528	20	116194											
USP24	23358	broad.mit.edu	37	chr1	55563749	55563749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccatgaaagcttcttcaCgctcatatctgattaggaaa	8	9	4	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:55563749C>T	uc001cyg.3	-	44	4982	c.4982G>A	c.(4981-4983)CGT>CAT	p.R1661H		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1821					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						AGCTTCTTCACGCTCATATCT	0.353													T	55563749	C	T	55563749	3	4	230	1	0	0	0	0	1	0	0	0	17052	536	19	1	2488	1	USP24	1	55563749	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	10878656	55563749	193686872	21	116195											
TACSTD2	4070	broad.mit.edu	37	chr1	59042211	59042211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttctgagacgtgttctgCcgcagctcgatctggatggt	13	11	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:59042211C>T	uc001cyz.3	-	1	956	c.618G>A	c.(616-618)CGG>CGA	p.R206R		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	206	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					ACGTGTTCTGCCGCAGCTCGA	0.647													T	59042211	C	T	59042211	2	4	230	1	0	0	0	0	0	0	0	1	15505	726	26	2		2	TACSTD2	1	59042211	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3478462	59042211	190208410	22	116196											
USP1	7398	broad.mit.edu	37	chr1	62913077	62913077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagctggtattaaggacgCgttgcttggaatgtgaaagt	14	5	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:62913077C>T	uc001daj.1	+	7	1643	c.1315C>T	c.(1315-1317)CGT>TGT	p.R439C	USP1_uc001dak.1_Missense_Mutation_p.R439C|USP1_uc001dal.1_Missense_Mutation_p.R439C	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	439					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			ovary(1)	1		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)		ATTAAGGACGCGTTGCTTGGA	0.368													T	62913077	C	T	62913077	3	4	230	1	0	0	0	0	1	0	0	0	17037	768	27	1	1337	1	USP1	1	62913077	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3870866	62913077	186337544	23	116197											
LRRC7	57554	broad.mit.edu	37	chr1	70225942	70225942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccatgccgatgtttccgaGgtgaagaagaaatcatctca	10	9	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:70225942G>T	uc001dep.2	+	1	85	c.55G>T	c.(55-57)GGT>TGT	p.G19C	LRRC7_uc001deo.1_Missense_Mutation_p.G57C|LRRC7_uc009wbg.2_Translation_Start_Site	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	19						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						ATGTTTCCGAGGTGAAGAAGA	0.438													T	70225942	G	T	70225942	3	4	230	1	0	0	0	0	1	0	0	0	9020	1000	35	5	57	5	LRRC7	1	70225942	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	7312865	70225942	179024679	24	116198											
LRRC7	57554	broad.mit.edu	37	chr1	70446067	70446067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctctcccagcctgaAgttctggatcaaatacaaaa	5	13	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:70446067A>C	uc001dep.2	+	7	633	c.603A>C	c.(601-603)GAA>GAC	p.E201D	LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	201	LRR 8.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCCAGCCTGAAGTTCTGGATC	0.348													C	70446067	A	C	70446067	3	2	230	1	0	0	0	0	1	0	0	0	9020	69	3	5	629	5	LRRC7	1	70446067	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	220125	70446067	178804554	25	116199											
C1orf173	127254	broad.mit.edu	37	chr1	75037321	75037321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccgaacctgccaacaccTccctctcctctgcggctgtt	6	19	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:75037321T>C	uc001dgg.2	-	14	4292	c.4073A>G	c.(4072-4074)GAG>GGG	p.E1358G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1358	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TGCCAACACCTCCCTCTCCTC	0.517													C	75037321	T	C	75037321	3	2	230	1	0	0	0	0	1	0	0	0	2014	1551	54	3	523	3	C1orf173	1	75037321	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	4591254	75037321	174213300	26	116200											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779497	76779497	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatgttttgtagagaaagtCtgtgattgctgtgagcttca	11	4	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:76779497C>A	uc001dhh.2	+	2	189	c.26C>A	c.(25-27)TCT>TAT	p.S9Y	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.S9Y|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	9	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						TAGAGAAAGTCTGTGATTGCT	0.378													A	76779497	C	A	76779497	3	1	230	1	0	0	0	0	1	0	0	0	15224	913	32	5	32	5	ST6GALNAC3	1	76779497	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1742176	76779497	172471124	27	116201											
SSX2IP	117178	broad.mit.edu	37	chr1	85130166	85130166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagtttattatattcacGctcttttctcttcatatcat	2	10	6	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:85130166G>A	uc001dkh.2	-	7	882	c.607C>T	c.(607-609)CGT>TGT	p.R203C	SSX2IP_uc001dkf.2_Missense_Mutation_p.R176C|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.R176C|SSX2IP_uc001dki.2_Missense_Mutation_p.R203C|SSX2IP_uc010osa.1_Missense_Mutation_p.R176C|SSX2IP_uc001dkj.2_Missense_Mutation_p.R203C|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.R199C	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	203	Potential.				cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTATATTCACGCTCTTTTCTC	0.333													A	85130166	G	A	85130166	3	1	230	1	0	0	0	0	1	0	0	0	15203	1087	38	1	1273	1	SSX2IP	1	85130166	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	8350669	85130166	164120455	28	116202											
SSX2IP	117178	broad.mit.edu	37	chr1	85135370	85135370	+	Frame_Shift_Del	DEL	T	T	-													tctgcaatttctaccttaagTtttgagtagcagctctgtag							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:85135369_85135369GT>G	uc001dki.3	-	4	747	c.421_421AC>C	c.(421-423)cttfs	p.L141fs	SSX2IP_uc001dkf.3_Frame_Shift_Del_p.L114fs|SSX2IP_uc001dkh.3_Frame_Shift_Del_p.L141fs|SSX2IP_uc010orz.2_Frame_Shift_Del_p.L114fs|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Frame_Shift_Del_p.L114fs|SSX2IP_uc001dkj.3_Frame_Shift_Del_p.L141fs|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Frame_Shift_Del_p.L137fs	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	141					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)		TCTACCTTAAGTTTTGAGTAG	0.338													-	85135370	T	-	85135370	7	5	230	1	0	1	0	1	0	0	0	0	15203	1722	60	0	1468	0	SSX2IP	1	85135370	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	5204	85135370	164115251	29	116203											
COL11A1	1301	broad.mit.edu	37	chr1	103388939	103388939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcaccaggtgggcctgGcagaccctaagaaaatataa	9	9	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:103388939G>A	uc001dul.2	-	47	3925	c.3607C>T	c.(3607-3609)CCA>TCA	p.P1203S	COL11A1_uc001duk.2_Missense_Mutation_p.P399S|COL11A1_uc001dum.2_Missense_Mutation_p.P1215S|COL11A1_uc001dun.2_Missense_Mutation_p.P1164S|COL11A1_uc009weh.2_Missense_Mutation_p.P1087S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1203	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		GGTGGGCCTGGCAGACCCTAA	0.333													A	103388939	G	A	103388939	3	1	230	1	0	0	0	0	1	0	0	0	3667	1203	42	2	1897	2	COL11A1	1	103388939	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	18253569	103388939	145861682	30	116204											
SLC25A24	29957	broad.mit.edu	37	chr1	108700183	108700184	+	Frame_Shift_Ins	INS	-	-	T													gcctccaccattgtccggatINStttttttcgtcttccgtgaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:108700182_108700183A>AT	uc001dvn.4	-	4	784_785	c.570_571T>AT	c.(568-573)aaatccfs	p.K190fs	SLC25A24_uc001dvm.3_Frame_Shift_Ins_p.K171fs	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	190					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.K171fs*29(1)|p.K190fs*29(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CATTGTCCGGATTTTTTTTCGT	0.45													T	108700184	-	T	108700183	7	5	230	1	0	1	1	0	0	0	0	0	14487	1490	52	0	887	0	SLC25A24	1	108700183	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	5311244	108700183	140550438	31	116205											
KCNC4	3749	broad.mit.edu	37	chr1	110766127	110766127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgctgagcgcattggggCcaggccctccgaccctcggg	14	16	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:110766127C>T	uc001dzh.2	+	2	1277	c.1220C>T	c.(1219-1221)GCC>GTC	p.A407V	KCNC4_uc001dzf.2_Missense_Mutation_p.A407V|KCNC4_uc009wfr.2_Missense_Mutation_p.A407V|KCNC4_uc001dzg.2_Missense_Mutation_p.A407V|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	407					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCATTGGGGCCAGGCCCTCC	0.582													T	110766127	C	T	110766127	3	4	230	1	0	0	0	0	1	0	0	0	8017	739	26	2	1226	2	KCNC4	1	110766127	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2065944	110766127	138484494	32	116206											
OVGP1	5016	broad.mit.edu	37	chr1	111957202	111957202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatagatgggaacaaagcGgttgtcaaaagctagaggag	13	6	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:111957202G>A	uc001eba.2	-	11	1977	c.1921C>T	c.(1921-1923)CGC>TGC	p.R641C	OVGP1_uc001eaz.2_Missense_Mutation_p.R603C|OVGP1_uc010owb.1_Missense_Mutation_p.R289C	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	641					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		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)		GGAACAAAGCGGTTGTCAAAA	0.468													A	111957202	G	A	111957202	3	1	230	1	0	0	0	0	1	0	0	0	11325	1116	39	1	119	1	OVGP1	1	111957202	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1191075	111957202	137293419	33	116207											
KCND3	3752	broad.mit.edu	37	chr1	112329567	112329567	+	Frame_Shift_Del	DEL	T	T	-													ccctgcgtctgaggcttaccTtttgtgccctgcgtttatca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:112329567delT	uc001ebu.1	-	3	1748	c.1268delA	c.(1267-1269)AAGfs	p.K423fs	KCND3_uc001ebv.1_Frame_Shift_Del_p.K423fs	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	423	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		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)		GAGGCTTACCTTTTGTGCCCT	0.562													-	112329567	T	-	112329567	7	5	230	1	0	1	0	1	0	0	0	0	8020	1623	56	0	723	0	KCND3	1	112329567	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	372365	112329567	136921054	34	116208											
HIPK1	204851	broad.mit.edu	37	chr1	114512809	114512809	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgactgcactgtagcaacCcaggcctcaggtcagtgtta	12	11	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:114512809C>A	uc001eem.2	+	14	3164	c.3003C>A	c.(3001-3003)ACC>ACA	p.T1001T	HIPK1_uc001eel.2_Silent_p.T1001T|HIPK1_uc001een.2_Silent_p.T1001T|HIPK1_uc001eeo.2_Silent_p.T627T|HIPK1_uc001eep.2_Silent_p.T607T|HIPK1_uc001eeq.2_Silent_p.T293T	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1001	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	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)		CTGTAGCAACCCAGGCCTCAG	0.473													A	114512809	C	A	114512809	2	1	230	1	0	0	0	0	0	0	0	1	7116	610	22	5		5	HIPK1	1	114512809	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2183242	114512809	134737812	35	116209											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075832	145075832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagtcgcatcggcggcGgcagcaggacccgctgtctg	15	14	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:145075832G>A	uc001emh.2	-	1	248	c.31C>T	c.(31-33)CGC>TGC	p.R11C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R11C|PDE4DIP_uc001emk.2_Missense_Mutation_p.R11C	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATCGGCGGCGGCAGCAGGAC	0.667			T	PDGFRB	MPD								A	145075832	G	A	145075832	3	1	230	1	0	0	0	0	1	0	0	0	11643	1116	39	1	8781	1	PDE4DIP	1	145075832	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	30563023	145075832	104174789	36	116210											
S100A9	6280	broad.mit.edu	37	chr1	153330873	153330873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccagggggaattcaaAgagctggtgcgaaaagatct	13	7	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:153330873A>G	uc001fbq.2	+	2	157	c.114A>G	c.(112-114)AAA>AAG	p.K38K		NM_002965	NP_002956	P06702	S10A9_HUMAN	S100 calcium-binding protein A9	38	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity				0	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)			GGGAATTCAAAGAGCTGGTGC	0.532													G	153330873	A	G	153330873	2	3	230	1	0	0	0	0	0	0	0	1	13787	69	3	3		3	S100A9	1	153330873	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	8255041	153330873	95919748	37	116211											
CHRNB2	1141	broad.mit.edu	37	chr1	154543684	154543684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgacggcatgtacgagGtgtccttctattccaatgcc	11	11	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:154543684G>A	uc001ffg.2	+	5	649	c.385G>A	c.(385-387)GTG>ATG	p.V129M		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	129	Extracellular (Potential).				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				0	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)	CATGTACGAGGTGTCCTTCTA	0.547													A	154543684	G	A	154543684	3	1	230	1	0	0	0	0	1	0	0	0	3391	1261	44	4	403	4	CHRNB2	1	154543684	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1212811	154543684	94706937	38	116212											
PKLR	5313	broad.mit.edu	37	chr1	155265023	155265023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgttcgcgttcccccgcGtccggaacgcggggtccaca	14	16	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:155265023G>A	uc001fkb.3	-	5	617	c.578C>T	c.(577-579)ACG>ATG	p.T193M	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.T162M	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	193					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTTCCCCCGCGTCCGGAACGC	0.632													A	155265023	G	A	155265023	3	1	230	1	0	0	0	0	1	0	0	0	11976	1145	40	1	1174	1	PKLR	1	155265023	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	721339	155265023	93985598	39	116213											
C1orf104	284618	broad.mit.edu	37	chr1	155290689	155290689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcagggtaggttgtgcTagtgcccctcccctcccgct	12	16	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:155290689T>C	uc001fki.2	-	2	868	c.591A>G	c.(589-591)CTA>CTG	p.L197L	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	197											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TAGGTTGTGCTAGTGCCCCTC	0.697													C	155290689	T	C	155290689	2	2	230	1	0	0	0	0	0	0	0	1	1978	1509	53	3		3	C1orf104	1	155290689	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	25666	155290689	93959932	40	116214											
KIAA0907	22889	broad.mit.edu	37	chr1	155886421	155886422	+	Frame_Shift_Ins	INS	-	-	CT													ttattccaacttacctgtccINSctctctctctctttgcctga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:155886421_155886422insCT	uc001fmi.1	-	12	1571_1572	c.1547_1548insAG	c.(1546-1548)AGGfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Ins_p.R516fs|KIAA0907_uc009wrk.1_Frame_Shift_Ins_p.R373fs|KIAA0907_uc009wrl.1_RNA	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	516											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTACCTGTCCCTCTCTCTCTC	0.396													CT	155886422	-	CT	155886421	7	5	230	1	0	1	1	0	0	0	0	0	8199	622	22	0	308	0	KIAA0907	1	155886421	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	595732	155886421	93364200	41	116215	547	2									
KIAA0907	22889	broad.mit.edu	37	chr1	155886422	155886423	+	Frame_Shift_Ins	INS	-	-	CT													tattccaacttacctgtcccINStctctctctctttgcctgag							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:155886421_155886422C>CCT	uc001fmi.1	-	11	1571_1572	c.1547_1548G>AGG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Ins_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		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)			CTTACCTGTCCCTCTCTCTCTC	0.396													CT	155886423	-	CT	155886422	7	5	230	1	0	1	1	0	0	0	0	0	8199	681	24	0	309	0	KIAA0907	1	155886422	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	155886422	93364199	42	116216	547	2									
MEF2D	4209	broad.mit.edu	37	chr1	156437907	156437907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccggtctcccgtctcatAggatcccccggctgggctgc	11	17	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:156437907A>G	uc001fpc.2	-	11	1822	c.1432T>C	c.(1432-1434)TAT>CAT	p.Y478H	MEF2D_uc001fpb.2_Missense_Mutation_p.Y471H|MEF2D_uc001fpd.2_Missense_Mutation_p.Y471H|MEF2D_uc001fpe.1_Missense_Mutation_p.Y478H|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	478					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCGTCTCATAGGATCCCCCG	0.706													G	156437907	A	G	156437907	3	3	230	1	0	0	0	0	1	0	0	0	9458	420	15	3	141	3	MEF2D	1	156437907	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	551485	156437907	92812714	43	116217											
FCRL1	115350	broad.mit.edu	37	chr1	157771340	157771340	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatgactcctgaggtaAgatgattgcttctggcccca	9	12	2	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:157771340A>C	uc001frg.2	-	6	1027	c.914T>G	c.(913-915)CTT>CGT	p.L305R	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.L305R|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	305	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTGAGGTAAGATGATTGCT	0.507													C	157771340	A	C	157771340	3	2	230	1	0	0	0	0	1	0	0	0	5794	72	3	5	465	5	FCRL1	1	157771340	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	1333433	157771340	91479281	44	116218											
OR10X1	128367	broad.mit.edu	37	chr1	158549530	158549530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcagattacctgcaagggTgagaaggtagagacaaaaga	13	5	1	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:158549530T>C	uc010pin.1	-	1	160	c.160A>G	c.(160-162)ACC>GCC	p.T54A		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	54	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T54N(1)		ovary(1)	1	all_hematologic(112;0.0378)					CCTGCAAGGGTGAGAAGGTAG	0.453													C	158549530	T	C	158549530	3	2	230	1	0	0	0	0	1	0	0	0	10922	1696	59	3	815	3	OR10X1	1	158549530	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	778190	158549530	90701091	45	116219											
SPTA1	6708	broad.mit.edu	37	chr1	158607915	158607915	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgcagctgccaattcTtggacattcaggaaacgctt	11	9	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:158607915T>G	uc001fst.1	-	36	5296	c.5097A>C	c.(5095-5097)CAA>CAC	p.Q1699H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1699	Spectrin 16.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTGCCAATTCTTGGACATTCA	0.428													G	158607915	T	G	158607915	3	3	230	1	0	0	0	0	1	0	0	0	15115	1606	56	5	2230	5	SPTA1	1	158607915	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	58385	158607915	90642706	46	116220											
OR6N1	128372	broad.mit.edu	37	chr1	158735638	158735638	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagggtgtgagcactgAgtagaccactgccagggcct	16	9	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:158735638A>C	uc010piq.1	-	1	835	c.835T>G	c.(835-837)TCA>GCA	p.S279A		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GTGAGCACTGAGTAGACCACT	0.512													C	158735638	A	C	158735638	3	2	230	1	0	0	0	0	1	0	0	0	11206	304	11	5	106	5	OR6N1	1	158735638	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	127723	158735638	90514983	47	116221											
PCP4L1	654790	broad.mit.edu	37	chr1	161254130	161254130	+	Frame_Shift_Del	DEL	A	A	-													gtctcccaactatctgcaggAaaagctggcaatgtcaagaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:161254130delA	uc001gad.2	+	3	314	c.66delA	c.(64-66)GGAfs	p.G22fs		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	22											0	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TATCTGCAGGAAAAGCTGGCA	0.507													-	161254130	A	-	161254130	7	5	230	1	0	1	0	1	0	0	0	0	11599	260	9	0	76	0	PCP4L1	1	161254130	Frame_Shift_Del	DEL	A	TCGA-D7-A4YY-01A-11D-A25D-08	2518492	161254130	87996491	48	116222											
ATF6	22926	broad.mit.edu	37	chr1	161833061	161833061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacttttttgaagccatcCgcagaaggggagacacattt	10	8	0	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:161833061C>T	uc001gbr.2	+	14	1745	c.1678C>T	c.(1678-1680)CGC>TGC	p.R560C	ATF6_uc001gbq.1_Missense_Mutation_p.R560C	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	560	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGAAGCCATCCGCAGAAGGGG	0.299													T	161833061	C	T	161833061	3	4	230	1	0	0	0	0	1	0	0	0	1084	652	23	1	1732	1	ATF6	1	161833061	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	578931	161833061	87417560	49	116223											
DNM3	26052	broad.mit.edu	37	chr1	172222791	172222791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctttatgtctagcaagCacatctttgcactctttaat	6	9	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:172222791C>T	uc001gie.2	+	15	1914	c.1738C>T	c.(1738-1740)CAC>TAC	p.H580Y	DNM3_uc009wwb.2_Missense_Mutation_p.H580Y|DNM3_uc001gif.2_Missense_Mutation_p.H580Y	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	590	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						GTCTAGCAAGCACATCTTTGC	0.358													T	172222791	C	T	172222791	3	4	230	1	0	0	0	0	1	0	0	0	4673	710	25	2	1796	2	DNM3	1	172222791	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	10389730	172222791	77027830	50	116224											
C1orf9	51430	broad.mit.edu	37	chr1	172558656	172558658	+	In_Frame_Del	DEL	TAT	TAT	-													gttaatgagttaatggataaTattataaaagaagatgtgaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:172558656_172558658delTAT	uc001giq.3	+	18	2731_2733	c.2415_2417delTAT	c.(2413-2418)AATATT>AAT	p.I807del	C1orf9_uc010pmm.1_In_Frame_Del_p.I807del|C1orf9_uc009wwd.2_In_Frame_Del_p.I763del|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	807					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TAATGGATAATATTATAAAAGAA	0.335													-	172558658	TAT	-	172558656	7	5	230	1	0	1	0	1	0	0	0	0	2067	1403	49	0	2485	0	C1orf9	1	172558656	In_Frame_Del	DEL	TAT	TCGA-D7-A4YY-01A-11D-A25D-08	335865	172558656	76691965	51	116225											
FASLG	356	broad.mit.edu	37	chr1	172628524	172628524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccgccgccgccgccAccactgcctccactaccgct	6	25	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:172628524A>G	uc001gis.2	+	1	340	c.183A>G	c.(181-183)CCA>CCG	p.P61P	FASLG_uc001git.2_Silent_p.P61P	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	61	Pro-rich.|Poly-Pro.|Cytoplasmic (Potential).				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			lung(2)|breast(1)	3						cgccgccgccaccactgcctc	0.333													G	172628524	A	G	172628524	2	3	230	1	0	0	0	0	0	0	0	1	5682	146	6	3		3	FASLG	1	172628524	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	69868	172628524	76622097	52	116226											
DARS2	55157	broad.mit.edu	37	chr1	173822937	173822937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaatcttctaggcccGtagccaacactatgacttgg	9	11	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:173822937G>A	uc001gjh.1	+	15	1978	c.1568G>A	c.(1567-1569)CGT>CAT	p.R523H		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	523					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	TTCTAGGCCCGTAGCCAACAC	0.388													A	173822937	G	A	173822937	3	1	230	1	0	0	0	0	1	0	0	0	4242	1145	40	1	1626	1	DARS2	1	173822937	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1194413	173822937	75427684	53	116227											
HMCN1	83872	broad.mit.edu	37	chr1	186114998	186114998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccagttaaaggtggcCgtccctgtcccggagacact	12	13	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:186114998C>A	uc001grq.1	+	93	14780	c.14551C>A	c.(14551-14553)CGT>AGT	p.R4851S	HMCN1_uc001grs.1_Missense_Mutation_p.R420S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4851	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAAGGTGGCCGTCCCTGTCC	0.502													A	186114998	C	A	186114998	3	1	230	1	0	0	0	0	1	0	0	0	7220	652	23	5	14921	5	HMCN1	1	186114998	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	12292061	186114998	63135623	54	116228											
FAM5C	339479	broad.mit.edu	37	chr1	190067922	190067922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgataaaaatggcatggacTtctattcgtctgtccgtttt	8	8	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:190067922T>G	uc001gse.1	-	8	1759	c.1527A>C	c.(1525-1527)GAA>GAC	p.E509D	FAM5C_uc010pot.1_Missense_Mutation_p.E407D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	509						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGGCATGGACTTCTATTCGTC	0.468													G	190067922	T	G	190067922	3	3	230	1	0	0	0	0	1	0	0	0	5594	1606	56	5	777	5	FAM5C	1	190067922	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	3952924	190067922	59182699	55	116229											
CFHR3	10878	broad.mit.edu	37	chr1	196748981	196748981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcaaaattatggaagaaAgtttgtacagggtaactcta	8	4	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:196748981A>G	uc001gtl.2	+	3	395	c.308A>G	c.(307-309)AAG>AGG	p.K103R	CFHR3_uc001gtk.2_Missense_Mutation_p.K103R|CFHR3_uc010poy.1_Missense_Mutation_p.K103R|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	103	Sushi 2.					extracellular space					0						TATGGAAGAAAGTTTGTACAG	0.368													G	196748981	A	G	196748981	3	3	230	1	0	0	0	0	1	0	0	0	3286	72	3	3	318	3	CFHR3	1	196748981	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	6681059	196748981	52501640	56	116230											
NR5A2	2494	broad.mit.edu	37	chr1	200143338	200143338	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatgccaaaagagcataAgttacaacccctaggagctc	8	11	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:200143338A>C	uc001gvb.2	+	8	1832	c.1626A>C	c.(1624-1626)TAA>TAC	p.*542Y	NR5A2_uc001gvc.2_Nonstop_Mutation_p.*496Y|NR5A2_uc009wzh.2_Nonstop_Mutation_p.*502Y|NR5A2_uc010pph.1_Nonstop_Mutation_p.*470Y	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	542					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			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					AAAGAGCATAAGTTACAACCC	0.448													C	200143338	A	C	200143338	4	2	230	1	0	0	0	0	0	0	0	0	10636	79	3	5	1656	5	NR5A2	1	200143338	Nonstop_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	3394357	200143338	49107283	57	116231											
IGFN1	91156	broad.mit.edu	37	chr1	201196203	201196203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaggaaaccccgcggtGtacagcactgacctgctggg	14	12	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:201196203G>A	uc001gwc.2	+	12	3232	c.2460G>A	c.(2458-2460)GTG>GTA	p.V820V	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						ACCCCGCGGTGTACAGCACTG	0.657													A	201196203	G	A	201196203	2	1	230	1	0	0	0	0	0	0	0	1	7590	1364	48	4		4	IGFN1	1	201196203	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1052865	201196203	48054418	58	116232											
ELF3	1999	broad.mit.edu	37	chr1	201980293	201980293	+	Frame_Shift_Del	DEL	T	T	-													aacctgtgagattagcaacaTttttagcaactacttcagtg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:201980293delT	uc001gxg.3	+	1	3221	c.29delT	c.(28-30)ATTfs	p.I10fs	ELF3_uc001gxi.3_Frame_Shift_Del_p.I10fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.I10fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	10					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				0						ATTAGCAACATTTTTAGCAAC	0.567													-	201980293	T	-	201980293	7	5	230	1	0	1	0	1	0	0	0	0	5055	1493	52	0	31	0	ELF3	1	201980293	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	784090	201980293	47270328	59	116233											
CR1	1378	broad.mit.edu	37	chr1	207679281	207679281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagaatggcttccatttGccaggcctaccaacctaact	6	16	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:207679281G>T	uc001hfy.2	+	2	294	c.154G>T	c.(154-156)GCC>TCC	p.A52S	CR1_uc009xcl.1_Missense_Mutation_p.A52S|CR1_uc001hfx.2_Missense_Mutation_p.A52S|CR1_uc010psg.1_Missense_Mutation_p.A52S|CR1_uc009xcj.1_Missense_Mutation_p.A52S|CR1_uc009xck.1_Missense_Mutation_p.A52S	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	52	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						GCTTCCATTTGCCAGGCCTAC	0.398													T	207679281	G	T	207679281	3	4	230	1	0	0	0	0	1	0	0	0	3840	1319	46	5	160	5	CR1	1	207679281	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	5698988	207679281	41571340	60	116234											
CENPF	1063	broad.mit.edu	37	chr1	214818826	214818827	+	Frame_Shift_Ins	INS	-	-	A													gagaattagatactatgtcaINSaaaaaaaccacggcactgga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:214818825_214818826C>CA	uc001hkm.3	+	12	6086_6087	c.5912_5913C>CA	c.(5911-5913)tcafs	p.S1971fs		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2067					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|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)		GATACTATGTCAAAAAAAACCA	0.411													A	214818827	-	A	214818826	7	5	230	1	0	1	1	0	0	0	0	0	3231	117	5	0	5959	0	CENPF	1	214818826	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	7139545	214818826	34431795	61	116235											
TAF5L	27097	broad.mit.edu	37	chr1	229738209	229738209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacctctagggcagcctcGttctgcagaatagggctggg	14	10	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:229738209G>A	uc001htq.2	-	4	871	c.705C>T	c.(703-705)AAC>AAT	p.N235N	TAF5L_uc001htr.2_Silent_p.N235N	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	235					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGGCAGCCTCGTTCTGCAGAA	0.552													A	229738209	G	A	229738209	2	1	230	1	0	0	0	0	0	0	0	1	15526	1136	40	1		1	TAF5L	1	229738209	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	14919383	229738209	19512412	62	116236											
TOMM20	9804	broad.mit.edu	37	chr1	235292003	235292003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggccccgcatacaccggCggcgatggcgctgttccgac	14	15	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:235292003C>T	uc001hwl.2	-	1	254	c.28G>A	c.(28-30)GCC>ACC	p.A10T	SNORA14B_uc001hwm.1_5'Flank	NM_014765	NP_055580	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20	10	Helical; (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding				0	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)			CATACACCGGCGGCGATGGCG	0.602													T	235292003	C	T	235292003	3	4	230	1	0	0	0	0	1	0	0	0	16351	768	27	1	429	1	TOMM20	1	235292003	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	5553794	235292003	13958618	63	116237											
MTR	4548	broad.mit.edu	37	chr1	236966834	236966834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcgggagaagctaaaCgaagaacacttccgaggtca	11	10	1	2	rs144151735	by1000genomes	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:236966834C>T	uc001hyi.3	+	2	564	c.141C>T	c.(139-141)AAC>AAT	p.N47N	MTR_uc010pxv.1_Intron|MTR_uc010pxw.1_Translation_Start_Site|MTR_uc010pxx.1_Silent_p.N47N|MTR_uc010pxy.1_Silent_p.N47N	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	47	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	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)	AGAAGCTAAACGAAGAACACT	0.463													T	236966834	C	T	236966834	2	4	230	1	0	0	0	0	0	0	0	1	9958	535	19	1		1	MTR	1	236966834	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1674831	236966834	12283787	64	116238											
RYR2	6262	broad.mit.edu	37	chr1	237947304	237947304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggacatcggcttcaacGtcgccgtccttctgacaaac	9	14	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:237947304G>A	uc001hyl.1	+	90	12412	c.12292G>A	c.(12292-12294)GTC>ATC	p.V4098I	RYR2_uc010pya.1_Missense_Mutation_p.V513I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4098					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CGGCTTCAACGTCGCCGTCCT	0.498													A	237947304	G	A	237947304	3	1	230	1	0	0	0	0	1	0	0	0	13769	1145	40	1	12650	1	RYR2	1	237947304	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	980470	237947304	11303317	65	116239											
HNRNPU	3192	broad.mit.edu	37	chr1	245017759	245017759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatttgggtattcaataaTatccttggtgataatgctga	8	4	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:245017759T>C	uc001iaz.1	-	14	2689	c.2471A>G	c.(2470-2472)TAT>TGT	p.Y824C	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.Y548C|HNRNPU_uc001iba.1_Missense_Mutation_p.Y805C	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	824	Gly-rich.				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				0	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)			TATTCAATAATATCCTTGGTG	0.333													C	245017759	T	C	245017759	3	2	230	1	0	0	0	0	1	0	0	0	7273	1406	49	3	10	3	HNRNPU	1	245017759	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	7070455	245017759	4232862	66	116240											
OR11L1	391189	broad.mit.edu	37	chr1	248004739	248004739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcagaaagcctgtgcTgacccctgtgcaccaggaga	14	11	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:248004739T>C	uc001idn.1	-	1	460	c.460A>G	c.(460-462)AGC>GGC	p.S154G		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	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)			AAGCCTGTGCTGACCCCTGTG	0.577													C	248004739	T	C	248004739	3	2	230	1	0	0	0	0	1	0	0	0	10930	1580	55	3	512	3	OR11L1	1	248004739	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	2986980	248004739	1245882	67	116241											
OR2M3	127062	broad.mit.edu	37	chr1	248366510	248366510	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggaaactctgtcatggttctCctcatctacctggacaccca	7	14	5	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:248366510C>G	uc010pzg.1	+	1	141	c.141C>G	c.(139-141)CTC>CTG	p.L47L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			TCATGGTTCTCCTCATCTACC	0.547													G	248366510	C	G	248366510	2	3	230	1	0	0	0	0	0	0	0	1	11011	842	30	5		5	OR2M3	1	248366510	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	361771	248366510	884111	68	116242											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107334	249107334	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggtgctcccgctcacctcGaagccgctcttcctccgcct	8	20	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr1:249107334G>T	uc001iew.1	-	6	1117	c.565C>A	c.(565-567)CGA>AGA	p.R189R	SH3BP5L_uc010pzp.1_Silent_p.R82R|SH3BP5L_uc010pzq.1_Silent_p.R157R|SH3BP5L_uc001iev.1_Silent_p.R70R	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	189	Potential.										0	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)			CGCTCACCTCGAAGCCGCTCT	0.637													T	249107334	G	T	249107334	2	4	230	1	0	0	0	0	0	0	0	1	14248	1066	37	5		5	SH3BP5L	1	249107334	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	740824	249107334	143287	69	116243											
PXDN	7837	broad.mit.edu	37	chr2	1652415	1652415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtggtactctcccagcGtcctcatgcccacctccccc	7	21	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:1652415G>A	uc002qxa.2	-	17	3201	c.3137C>T	c.(3136-3138)ACG>ATG	p.T1046M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1046					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			pancreas(6)|ovary(2)	8	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)		CTCTCCCAGCGTCCTCATGCC	0.602													A	1652415	G	A	1652415	3	1	230	1	0	0	0	0	1	0	0	0	12847	1145	40	1	1330	1	PXDN	2	1652415	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		1652415	241546958	70	116244											
PXDN	7837	broad.mit.edu	37	chr2	1653207	1653207	+	Frame_Shift_Del	DEL	T	T	-													cgttgtacagtcggtgggggTtgatgccccgaggggtgttg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:1653206_1653206GT>G	uc002qxa.3	-	16	2410	c.2346_2346AC>C	c.(2344-2346)aacfs	p.N782fs		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	782					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)		GTCGGTGGGGGTTGATGCCCC	0.652													-	1653207	T	-	1653207	7	5	230	1	0	1	0	1	0	0	0	0	12847	1725	60	0	2122	0	PXDN	2	1653207	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	792	1653207	241546166	71	116245											
CMPK2	129607	broad.mit.edu	37	chr2	7005402	7005402	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcgagcagcgcttgccgGgtgtcagggtcatccagggg	17	11	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:7005402G>T	uc002qyo.2	-	1	535	c.426C>A	c.(424-426)ACC>ACA	p.T142T	CMPK2_uc010yis.1_Silent_p.T142T|CMPK2_uc010ewv.2_Silent_p.T142T	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	UMP-CMP kinase 2 precursor	142					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCGCTTGCCGGGTGTCAGGGT	0.736													T	7005402	G	T	7005402	2	4	230	1	0	0	0	0	0	0	0	1	3581	1219	43	5		5	CMPK2	2	7005402	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	5352195	7005402	236193971	72	116246											
ITSN2	50618	broad.mit.edu	37	chr2	24484521	24484521	+	Frame_Shift_Del	DEL	T	T	-													ttcattttcacttgatggcaTtttttctacataattgcatg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:24484521delT	uc002rfe.2	-	21	2704	c.2446delA	c.(2446-2448)ATGfs	p.M816fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.M789fs|ITSN2_uc002rfg.2_Frame_Shift_Del_p.M816fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	816	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGATGGCATTTTTTCTACA	0.378													-	24484521	T	-	24484521	7	5	230	1	0	1	0	1	0	0	0	0	7927	1493	52	0	2778	0	ITSN2	2	24484521	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	17479119	24484521	218714852	73	116247											
GPN1	11321	broad.mit.edu	37	chr2	27865301	27865301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtatatacaggccaaCgcagagagccaacagcagag	10	11	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:27865301C>T	uc010ymc.1	+	12	909	c.888C>T	c.(886-888)AAC>AAT	p.N296N	GPN1_uc010ezf.2_Silent_p.N270N|GPN1_uc010yma.1_Silent_p.N203N|GPN1_uc010ymb.1_Silent_p.N187N|GPN1_uc010ymd.1_Silent_p.N177N|GPN1_uc010yme.1_Missense_Mutation_p.T283M|GPN1_uc010ezg.1_Silent_p.N177N	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	282						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						TACAGGCCAACGCAGAGAGCC	0.428													T	27865301	C	T	27865301	2	4	230	1	0	0	0	0	0	0	0	1	6617	535	19	1		1	GPN1	2	27865301	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3380780	27865301	215334072	74	116248											
GALNT14	79623	broad.mit.edu	37	chr2	31168648	31168649	+	Splice_Site	INS	-	-	C													gaggtgttagcccaactcacINScccctctgagctccgaggca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:31168647_31168648A>AC	uc002rns.3	-	8	1397	c.757_splice	c.e8+1	p.G253_splice	GALNT14_uc002rnq.3_Splice_Site_p.G228_splice|GALNT14_uc010ymr.2_Splice_Site_p.G213_splice|GALNT14_uc002rnr.3_Splice_Site_p.G248_splice|GALNT14_uc010ezo.2_Splice_Site_p.G215_splice|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	248						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)					AGCCCAACTCACCCCCTCTGAG	0.51													C	31168649	-	C	31168648	8	5	230	1	0	1	1	0	0	0	1	0	6212	521	18	0	951	0	GALNT14	2	31168648	Splice_Site	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	3303347	31168648	212030725	75	116249											
BIRC6	57448	broad.mit.edu	37	chr2	32658787	32658787	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacatgtggacttcaaattCgttttgaactcaaacatcac	7	9	3	1	rs36065012	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:32658787C>T	uc010ezu.2	+	13	3458	c.3324C>T	c.(3322-3324)TTC>TTT	p.F1108F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1108					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ACTTCAAATTCGTTTTGAACT	0.368													T	32658787	C	T	32658787	2	4	230	1	0	0	0	0	0	0	0	1	1438	883	31	1		1	BIRC6	2	32658787	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1490139	32658787	210540586	76	116250											
VIT	5212	broad.mit.edu	37	chr2	36994320	36994320	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcagcttctggctgtcActgtagctgtggccaccccc	11	14	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:36994320A>G	uc002rpl.2	+	7	792	c.571A>G	c.(571-573)ACT>GCT	p.T191A	VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Missense_Mutation_p.T184A|VIT_uc010ezv.2_Missense_Mutation_p.T184A|VIT_uc010ezw.2_Missense_Mutation_p.T184A	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	191						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TCTGGCTGTCACTGTAGCTGT	0.562													G	36994320	A	G	36994320	3	3	230	1	0	0	0	0	1	0	0	0	17168	159	6	3	718	3	VIT	2	36994320	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	4335533	36994320	206205053	77	116251											
PRKD3	23683	broad.mit.edu	37	chr2	37480415	37480415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtatttcccagcgagCatcatcactttcatgtgtaa	7	10	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:37480415C>T	uc002rqd.2	-	18	3133	c.2578G>A	c.(2578-2580)GCT>ACT	p.A860T		NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	860					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				TCCCAGCGAGCATCATCACTT	0.383													T	37480415	C	T	37480415	3	4	230	1	0	0	0	0	1	0	0	0	12520	710	25	2	98	2	PRKD3	2	37480415	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	486095	37480415	205718958	78	116252											
PKDCC	91461	broad.mit.edu	37	chr2	42280399	42280399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatggctactgctaccaGgacagcgaggacatcccaga	10	13	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:42280399G>A	uc002rsg.2	+	2	839	c.660G>A	c.(658-660)CAG>CAA	p.Q220Q		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	220	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						ACTGCTACCAGGACAGCGAGG	0.607													A	42280399	G	A	42280399	2	1	230	1	0	0	0	0	0	0	0	1	11969	991	35	4		4	PKDCC	2	42280399	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4799984	42280399	200918974	79	116253											
ALMS1	7840	broad.mit.edu	37	chr2	73677769	73677769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagttgaccagacaactgGcacaccaactgtaacctcta	6	14	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:73677769G>A	uc002sje.1	+	10	4229	c.4118G>A	c.(4117-4119)GGC>GAC	p.G1373D	ALMS1_uc002sjf.1_Missense_Mutation_p.G1329D|ALMS1_uc002sjg.2_Missense_Mutation_p.G759D|ALMS1_uc002sjh.1_Missense_Mutation_p.G759D	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1371	18.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CAGACAACTGGCACACCAACT	0.453													A	73677769	G	A	73677769	3	1	230	1	0	0	0	0	1	0	0	0	535	1203	42	2	4142	2	ALMS1	2	73677769	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	31397370	73677769	169521604	80	116254											
ST3GAL5	8869	broad.mit.edu	37	chr2	86073607	86073607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaggtcagacagtggtgCgccctctggataagtcatcc	11	11	4	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:86073607C>T	uc002sqq.1	-	5	871	c.742G>A	c.(742-744)GCA>ACA	p.A248T	ST3GAL5_uc010fgq.1_Missense_Mutation_p.A120T|ST3GAL5_uc002sqp.1_Missense_Mutation_p.A225T	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	248	Lumenal (Potential).				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				0						GACAGTGGTGCGCCCTCTGGA	0.348													T	86073607	C	T	86073607	3	4	230	1	0	0	0	0	1	0	0	0	15217	768	27	1	526	1	ST3GAL5	2	86073607	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	12395838	86073607	157125766	81	116255											
TEKT4	150483	broad.mit.edu	37	chr2	95537373	95537373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgcaaagagtacgacGtggcccgtaacacgggcgcc	13	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:95537373G>A	uc002stw.1	+	1	142	c.49G>A	c.(49-51)GTG>ATG	p.V17M	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	17					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						AGAGTACGACGTGGCCCGTAA	0.667													A	95537373	G	A	95537373	3	1	230	1	0	0	0	0	1	0	0	0	15752	1145	40	1	51	1	TEKT4	2	95537373	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	9463766	95537373	147662000	82	116256											
MGAT4A	11320	broad.mit.edu	37	chr2	99294914	99294914	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaagcaaggaattctcGttgataagcaatcagttttt	7	6	3	1	rs141026005		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:99294914G>A	uc002sze.2	-	3	429	c.115C>T	c.(115-117)CGA>TGA	p.R39*	MGAT4A_uc010fil.2_Translation_Start_Site	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	39	Lumenal (Potential).|Potential.				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			skin(1)	1						AGGAATTCTCGTTGATAAGCA	0.333													A	99294914	G	A	99294914	4	1	230	1	0	0	0	0	0	1	0	0	9545	1153	40	1	1650	1	MGAT4A	2	99294914	Nonsense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	3757541	99294914	143904459	83	116257											
C2orf55	343990	broad.mit.edu	37	chr2	99448925	99448925	+	Frame_Shift_Del	DEL	C	C	-													tctccccgcttggcaggaagCccccctggaggaggtggtgg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:99448925delC	uc002szf.1	-	5	720	c.426delG	c.(424-426)GGGfs	p.G142fs		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	142											0						TGGCAGGAAGCCCCCCTGGAG	0.522													-	99448925	C	-	99448925	7	5	230	1	0	1	0	1	0	0	0	0	2176	726	26	0	2486	0	C2orf55	2	99448925	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	154011	99448925	143750448	84	116258											
EIF5B	9669	broad.mit.edu	37	chr2	99999375	99999375	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcccttcattgttgcActcaataaggtatgtgcgcc	8	10	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:99999375A>G	uc002tab.2	+	14	2446	c.2262A>G	c.(2260-2262)GCA>GCG	p.A754A		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	754					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TCATTGTTGCACTCAATAAGG	0.303													G	99999375	A	G	99999375	2	3	230	1	0	0	0	0	0	0	0	1	5044	146	6	3		3	EIF5B	2	99999375	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	550450	99999375	143199998	85	116259											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460225	107460225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtccaggcccccaggcGgggagggctcatgtgcggcg	19	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:107460225G>A	uc002tdq.2	-	2	328	c.209C>T	c.(208-210)CCG>CTG	p.P70L	ST6GAL2_uc002tdr.2_Missense_Mutation_p.P70L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P70L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	70	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GCCCCCAGGCGGGGAGGGCTC	0.706													A	107460225	G	A	107460225	3	1	230	1	0	0	0	0	1	0	0	0	15221	1116	39	1	1487	1	ST6GAL2	2	107460225	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	7460850	107460225	135739148	86	116260											
RANBP2	5903	broad.mit.edu	37	chr2	109381418	109381419	+	Frame_Shift_Ins	INS	-	-	T													taacagtgatttcagatctgINSttttttctacaaaggaagga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:109381418_109381419insT	uc002tem.3	+	20	4549_4550	c.4423_4424insT	c.(4423-4425)GTTfs	p.V1475fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1475					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTTCAGATCTGTTTTTTCTACA	0.386													T	109381419	-	T	109381418	7	5	230	1	0	1	1	0	0	0	0	0	13028	1377	48	0	4501	0	RANBP2	2	109381418	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1921193	109381418	133817955	87	116261	548	2									
RANBP2	5903	broad.mit.edu	37	chr2	109381419	109381420	+	Frame_Shift_Ins	INS	-	-	T													aacagtgatttcagatctgtINStttttctacaaaggaaggac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:109381418_109381419G>GT	uc002tem.4	+	19	4549_4550	c.4423_4424G>GT	c.(4423-4425)gttfs	p.V1475fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1475					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|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						TTTCAGATCTGTTTTTTCTACA	0.386													T	109381420	-	T	109381419	7	5	230	1	0	1	1	0	0	0	0	0	13028	1725	60	0	4502	0	RANBP2	2	109381419	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	109381419	133817954	88	116262	548	2									
RANBP2	5903	broad.mit.edu	37	chr2	109388223	109388223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcattgtatatgaactaaCtccaaccgctgagcagaaag	7	10	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:109388223C>T	uc002tem.3	+	21	8042	c.7916C>T	c.(7915-7917)ACT>ATT	p.T2639I		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2639	Required for E3 SUMO-ligase activity.|1.|Interaction with UBE2I.|2 X 50 AA approximate repeats.				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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TATGAACTAACTCCAACCGCT	0.378													T	109388223	C	T	109388223	3	4	230	1	0	0	0	0	1	0	0	0	13028	565	20	4	7998	4	RANBP2	2	109388223	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	6804	109388223	133811150	89	116263											
TMEM177	80775	broad.mit.edu	37	chr2	120439107	120439107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggattctctcactcatgcCgtggagtcctggctggaccg	12	13	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:120439107C>T	uc010flg.1	+	2	1151	c.678C>T	c.(676-678)GCC>GCT	p.A226A	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.A226A|TMEM177_uc002tmd.2_Silent_p.A226A|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	226						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					TCACTCATGCCGTGGAGTCCT	0.612													T	120439107	C	T	120439107	2	4	230	1	0	0	0	0	0	0	0	1	16091	639	23	1		1	TMEM177	2	120439107	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	11050884	120439107	122760266	90	116264											
CNTNAP5	129684	broad.mit.edu	37	chr2	125262112	125262112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcagaaaatgacagaaCgcgtagctgaaatcctcaca	8	9	2	5			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:125262112C>T	uc002tno.2	+	8	1667	c.1303C>T	c.(1303-1305)CGC>TGC	p.R435C	CNTNAP5_uc010flu.2_Missense_Mutation_p.R436C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	435	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGACAGAACGCGTAGCTGA	0.507													T	125262112	C	T	125262112	3	4	230	1	0	0	0	0	1	0	0	0	3650	536	19	1	1333	1	CNTNAP5	2	125262112	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	4823005	125262112	117937261	91	116265											
FAM123C	205147	broad.mit.edu	37	chr2	131522032	131522032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggactctgagccccGctcagcccctgctgcccggt	11	19	2	1	rs145412369	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:131522032G>A	uc002trw.2	+	2	2577	c.2387G>A	c.(2386-2388)CGC>CAC	p.R796H	FAM123C_uc010fmv.2_Missense_Mutation_p.R796H|FAM123C_uc010fms.1_Missense_Mutation_p.R796H|FAM123C_uc010fmt.1_Missense_Mutation_p.R796H|FAM123C_uc010fmu.1_Missense_Mutation_p.R796H	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	796										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTGAGCCCCGCTCAGCCCCT	0.667													A	131522032	G	A	131522032	3	1	230	1	0	0	0	0	1	0	0	0	5424	1087	38	1	2389	1	FAM123C	2	131522032	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6259920	131522032	111677341	92	116266											
LRP1B	53353	broad.mit.edu	37	chr2	141283810	141283810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtggaatatcttactgcaGttcttttcatctgaagcatc	7	8	4	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:141283810G>T	uc002tvj.1	-	48	8844	c.7872C>A	c.(7870-7872)AAC>AAA	p.N2624K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2624	Extracellular (Potential).|LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TCTTACTGCAGTTCTTTTCAT	0.423										TSP Lung(27;0.18)			T	141283810	G	T	141283810	3	4	230	1	0	0	0	0	1	0	0	0	8955	1020	36	5	6103	5	LRP1B	2	141283810	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	9761778	141283810	101915563	93	116267											
LRP1B	53353	broad.mit.edu	37	chr2	141751623	141751623	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtcgccatcacatttcCaccgagcttggatacagtgt	8	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:141751623C>T	uc002tvj.1	-	16	3557	c.2585G>A	c.(2584-2586)TGG>TAG	p.W862*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	862	Extracellular (Potential).|LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ATCACATTTCCACCGAGCTTG	0.428										TSP Lung(27;0.18)			T	141751623	C	T	141751623	4	4	230	1	0	0	0	0	0	1	0	0	8955	595	21	4	11518	4	LRP1B	2	141751623	Nonsense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	467813	141751623	101447750	94	116268											
GTDC1	79712	broad.mit.edu	37	chr2	144764988	144764988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaattcttcaataaatcCtctgaatctctctgctctgg	4	10	6	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:144764988C>A	uc002tvp.2	-	7	915	c.636G>T	c.(634-636)GAG>GAT	p.E212D	GTDC1_uc002tvo.2_Missense_Mutation_p.E212D|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.E212D|GTDC1_uc010fnn.2_Missense_Mutation_p.E212D|GTDC1_uc002tvs.2_Missense_Mutation_p.E180D|GTDC1_uc010fno.2_Missense_Mutation_p.E83D|GTDC1_uc002tvt.1_Missense_Mutation_p.E212D	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	212					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCAATAAATCCTCTGAATCTC	0.423													A	144764988	C	A	144764988	3	1	230	1	0	0	0	0	1	0	0	0	6851	680	24	5	764	5	GTDC1	2	144764988	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3013365	144764988	98434385	95	116269											
CHRNA1	1134	broad.mit.edu	37	chr2	175613394	175613394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcggggtgtttgatcaGgggagagtggaagcccatgg	17	8	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:175613394G>A	uc002ujd.2	-	9	1309	c.1231C>T	c.(1231-1233)CTG>TTG	p.L411L	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.L386L	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	411	Cytoplasmic.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TGTTTGATCAGGGGAGAGTGG	0.478											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	175613394	G	A	175613394	2	1	230	1	0	0	0	0	0	0	0	1	3381	991	35	4		4	CHRNA1	2	175613394	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	30848406	175613394	67585979	96	116270											
HOXD13	3239	broad.mit.edu	37	chr2	176958221	176958221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatacgagcccttaccaGcacgtgcccggctatatcga	10	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:176958221G>A	uc002ukf.1	+	1	690	c.603G>A	c.(601-603)CAG>CAA	p.Q201Q		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	201					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCCCTTACCAGCACGTGCCCG	0.637			T	NUP98	AML*								A	176958221	G	A	176958221	2	1	230	1	0	0	0	0	0	0	0	1	7322	962	34	2		2	HOXD13	2	176958221	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1344827	176958221	66241152	97	116271											
TTN	7273	broad.mit.edu	37	chr2	179587840	179587840	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaatctcgcaggaatactgCcctgcatctctttttgtgct	7	12	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:179587840C>A	uc010zfg.1	-	72	18386	c.18162G>T	c.(18160-18162)GGG>GGT	p.G6054G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.G2715G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6981							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAATACTGCCCTGCATCTC	0.383													A	179587840	C	A	179587840	2	1	230	1	0	0	0	0	0	0	0	1	16732	726	26	5		5	TTN	2	179587840	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2629619	179587840	63611533	98	116272											
INPP1	3628	broad.mit.edu	37	chr2	191227411	191227411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgagtttactaatgactGgggtaagtataagaatctta	9	4	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:191227411G>T	uc002ury.3	+	4	963	c.263G>T	c.(262-264)TGG>TTG	p.W88L	INPP1_uc010fsb.2_Missense_Mutation_p.W88L|INPP1_uc002urx.3_Missense_Mutation_p.W88L	NM_001128928	NP_001122400	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	88					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ACTAATGACTGGGGTAAGTAT	0.308													T	191227411	G	T	191227411	3	4	230	1	0	0	0	0	1	0	0	0	7751	1357	47	5	269	5	INPP1	2	191227411	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	11639571	191227411	51971962	99	116273											
HECW2	57520	broad.mit.edu	37	chr2	197172768	197172768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgtttacgtgatccaCgtagaagatcctgccgtggc	12	10	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:197172768C>T	uc002utm.1	-	11	2659	c.2476G>A	c.(2476-2478)GTG>ATG	p.V826M	HECW2_uc002utl.1_Missense_Mutation_p.V470M	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	826	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						ACGTGATCCACGTAGAAGATC	0.552													T	197172768	C	T	197172768	3	4	230	1	0	0	0	0	1	0	0	0	7043	536	19	1	2318	1	HECW2	2	197172768	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	5945357	197172768	46026605	100	116274											
ALS2	57679	broad.mit.edu	37	chr2	202626159	202626159	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggctttgtcactgggaaGgcagtggtaatgagacccaa	14	8	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:202626159G>T	uc002uyo.2	-	4	914	c.558C>A	c.(556-558)GCC>GCA	p.A186A	ALS2_uc002uyp.3_Silent_p.A186A|ALS2_uc002uyq.2_Silent_p.A186A|ALS2_uc002uyr.2_Silent_p.A186A	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	186	RCC1 3.				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			skin(5)|lung(1)|breast(1)	7						TCACTGGGAAGGCAGTGGTAA	0.527													T	202626159	G	T	202626159	2	4	230	1	0	0	0	0	0	0	0	1	550	987	35	5		5	ALS2	2	202626159	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	5453391	202626159	40573214	101	116275											
CPS1	1373	broad.mit.edu	37	chr2	211521259	211521259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttggccaggttatctctcAtgccatctctgaacatgttg	8	10	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:211521259A>G	uc002vee.3	+	30	3701	c.3569A>G	c.(3568-3570)CAT>CGT	p.H1190R	CPS1_uc010fur.2_Missense_Mutation_p.H1196R|CPS1_uc010fus.2_Missense_Mutation_p.H739R	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1190	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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTTATCTCTCATGCCATCTCT	0.458													G	211521259	A	G	211521259	3	3	230	1	0	0	0	0	1	0	0	0	3823	217	8	3	3709	3	CPS1	2	211521259	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	8895100	211521259	31678114	102	116276											
IGFBP5	3488	broad.mit.edu	37	chr2	217543602	217543602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtctcatctcaggtgCagagatgatccgggggtggg	15	10	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:217543602C>T	uc002vgj.3	-	2	1312	c.538G>A	c.(538-540)GCA>ACA	p.A180T		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	180					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				0		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)		ATCTCAGGTGCAGAGATGATC	0.547													T	217543602	C	T	217543602	3	4	230	1	0	0	0	0	1	0	0	0	7582	710	25	2	292	2	IGFBP5	2	217543602	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	6022343	217543602	25655771	103	116277											
SLC11A1	6556	broad.mit.edu	37	chr2	219247695	219247695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaggtgacaagggtcCccaaaggctaagcgggtcca	12	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:219247695C>A	uc002vhv.2	+	2	360	c.20C>A	c.(19-21)CCC>CAC	p.P7H	SLC11A1_uc010zkb.1_Missense_Mutation_p.P7H|SLC11A1_uc010fvp.1_Missense_Mutation_p.P7H|SLC11A1_uc010fvq.1_Intron|SLC11A1_uc010zkc.1_5'UTR|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	7	Pro/Ser-rich.|Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)	4		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)		GACAAGGGTCCCCAAAGGCTA	0.517													A	219247695	C	A	219247695	3	1	230	1	0	0	0	0	1	0	0	0	14380	623	22	5	26	5	SLC11A1	2	219247695	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1704093	219247695	23951678	104	116278											
IRS1	3667	broad.mit.edu	37	chr2	227662442	227662442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtccaccgaggctgggCgggacatggtgccttcgccg	16	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:227662442C>T	uc002voh.3	-	1	1065	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	338	Ser-rich.				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		CGAGGCTGGGCGGGACATGGT	0.711											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	227662442	C	T	227662442	3	4	230	1	0	0	0	0	1	0	0	0	7840	768	27	1	2719	1	IRS1	2	227662442	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	8414747	227662442	15536931	105	116279											
SLC19A3	80704	broad.mit.edu	37	chr2	228552892	228552892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttacctgaatgctgActggcaagttgagccctctc	10	12	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:228552892A>G	uc002vpi.2	-	5	1393	c.1304T>C	c.(1303-1305)GTC>GCC	p.V435A	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.V431A	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	435	Helical; (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		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)	CTGAATGCTGACTGGCAAGTT	0.393													G	228552892	A	G	228552892	3	3	230	1	0	0	0	0	1	0	0	0	14430	275	10	3	194	3	SLC19A3	2	228552892	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	890450	228552892	14646481	106	116280											
SLC19A3	80704	broad.mit.edu	37	chr2	228563510	228563510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaagaatcttgggatggCgccttgtaatcccacaggat	12	8	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:228563510C>T	uc002vpi.2	-	3	1010	c.921G>A	c.(919-921)GCG>GCA	p.A307A	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.A303A	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	307	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		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)	CTTGGGATGGCGCCTTGTAAT	0.448													T	228563510	C	T	228563510	2	4	230	1	0	0	0	0	0	0	0	1	14430	755	27	1		1	SLC19A3	2	228563510	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	10618	228563510	14635863	107	116281											
HDAC4	9759	broad.mit.edu	37	chr2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-													aagtactcagcgtctcccatGggggggtccaggccgccggt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:240002823delG	uc002vyk.3	-	22	3495	c.2703delC	c.(2701-2703)CCCfs	p.P901fs	HDAC4_uc010fyy.2_Frame_Shift_Del_p.P858fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	901	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			breast(3)|skin(2)|ovary(1)	6		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)		CGTCTCCCATGGGGGGGTCCA	0.602													-	240002823	G	-	240002823	7	5	230	1	0	1	0	1	0	0	0	0	7009	1335	47	0	575	0	HDAC4	2	240002823	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	11439313	240002823	3196550	108	116282											
KIF1A	547	broad.mit.edu	37	chr2	241659198	241659198	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccccacacacctgactcGgatctcctggatgtcaggga	11	14	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr2:241659198G>A	uc002vzy.2	-	44	4857	c.4711C>T	c.(4711-4713)CGA>TGA	p.R1571*	KIF1A_uc010fzk.2_Nonsense_Mutation_p.R1672*|KIF1A_uc002vzw.2_Nonsense_Mutation_p.R232*|KIF1A_uc002vzx.2_Nonsense_Mutation_p.R298*	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1571					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		CACCTGACTCGGATCTCCTGG	0.662													A	241659198	G	A	241659198	4	1	230	1	0	0	0	0	0	1	0	0	8283	1124	39	1	377	1	KIF1A	2	241659198	Nonsense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1656375	241659198	1540175	109	116283											
MTMR14	64419	broad.mit.edu	37	chr3	9739422	9739423	+	Frame_Shift_Del	DEL	CT	CT	-													gaccatcccctgcccggatcCtctctctccacagactatgg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:9739421_9739422CCT>C	uc003brz.3	+	17	1791_1792	c.1640_1641CCT>C	c.(1639-1641)tccfs	p.S547fs	MTMR14_uc003bsa.3_Intron|MTMR14_uc003bsb.3_Intron|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	547						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)					CTGCCCGGATCCTCTCTCTCCA	0.594													-	9739423	CT	-	9739422	7	5	230	1	0	1	0	1	0	0	0	0	9942	668	24	0	1711	0	MTMR14	3	9739422	Frame_Shift_Del	DEL	CT	TCGA-D7-A4YY-01A-11D-A25D-08		9739422	188283008	110	116284											
IQSEC1	9922	broad.mit.edu	37	chr3	12978181	12978181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaggcgccccccatactttCgttctagcatctccacctgc	6	19	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:12978181C>T	uc003bxt.2	-	3	386	c.377G>A	c.(376-378)CGA>CAA	p.R126Q	IQSEC1_uc003bxu.3_Missense_Mutation_p.R4Q|IQSEC1_uc011auw.1_Missense_Mutation_p.R112Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	126					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CCCATACTTTCGTTCTAGCAT	0.577													T	12978181	C	T	12978181	3	4	230	1	0	0	0	0	1	0	0	0	7817	884	31	1	3107	1	IQSEC1	3	12978181	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3238759	12978181	185044249	111	116285											
NUP210	23225	broad.mit.edu	37	chr3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-													ggcctggatcttcagctccaGgggggagtcctccaggtaga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:13438889_13438889AG>A	uc003bxv.1	-	2	487	c.404_404CT>T	c.(403-405)ctgfs	p.L135fs		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	135					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P134L(1)		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)					CTTCAGCTCCAGGGGGGAGTC	0.607													-	13438890	G	-	13438890	7	5	230	1	0	1	0	1	0	0	0	0	10760	991	35	0	5412	0	NUP210	3	13438890	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	460709	13438890	184583540	112	116286											
FBLN2	2199	broad.mit.edu	37	chr3	13661294	13661294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatatgctcctgttttccCggctatgccatcatggcgga	10	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:13661294C>T	uc011avb.1	+	8	2243	c.2118C>T	c.(2116-2118)CCC>CCT	p.P706P	FBLN2_uc011auz.1_Silent_p.P732P|FBLN2_uc011ava.1_Silent_p.P706P|FBLN2_uc011avc.1_Silent_p.P706P	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	706	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGTTTTCCCGGCTATGCCA	0.587													T	13661294	C	T	13661294	2	4	230	1	0	0	0	0	0	0	0	1	5699	639	23	1		1	FBLN2	3	13661294	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	222404	13661294	184361136	113	116287											
TRANK1	9881	broad.mit.edu	37	chr3	36888771	36888771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtacttcaaccaatggccGgttttcctctctggagtcag	11	11	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:36888771G>A	uc003cgj.2	-	6	3474	c.3172C>T	c.(3172-3174)CGG>TGG	p.R1058W		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1608					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						ACCAATGGCCGGTTTTCCTCT	0.443													A	36888771	G	A	36888771	3	1	230	1	0	0	0	0	1	0	0	0	16451	1115	39	1	3991	1	TRANK1	3	36888771	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	23227477	36888771	161133659	114	116288											
VILL	50853	broad.mit.edu	37	chr3	38035889	38035889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagctggggggccagacCgtgctgcaccgcgaggcgca	18	13	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:38035889C>T	uc003chj.2	+	4	559	c.273C>T	c.(271-273)ACC>ACT	p.T91T	VILL_uc003chk.1_Silent_p.T91T|VILL_uc003chl.2_Silent_p.T91T|VILL_uc010hgu.2_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	91					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGGCCAGACCGTGCTGCACC	0.711													T	38035889	C	T	38035889	2	4	230	1	0	0	0	0	0	0	0	1	17162	639	23	1		1	VILL	3	38035889	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1147118	38035889	159986541	115	116289											
COL7A1	1294	broad.mit.edu	37	chr3	48616694	48616694	+	Frame_Shift_Del	DEL	G	G	-													cgctccggccatccagcccaGggggaccccggtcaccctgt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:48616694delG	uc003ctz.2	-	61	5325	c.5324delC	c.(5323-5325)CCTfs	p.P1775fs	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1775	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCCAGCCCAGGGGGACCCCG	0.617													-	48616694	G	-	48616694	7	5	230	1	0	1	0	1	0	0	0	0	3704	1000	35	0	3742	0	COL7A1	3	48616694	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	10580805	48616694	149405736	116	116290											
CYB561D2	11068	broad.mit.edu	37	chr3	50390758	50390758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggaaaggccgagcacgCtgccactgggtgctgcagct	14	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:50390758C>T	uc003dak.2	+	3	828	c.252C>T	c.(250-252)CGC>CGT	p.R84R	NPRL2_uc003dai.1_5'Flank|NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dal.2_Silent_p.R84R|CYB561D2_uc003dam.2_Silent_p.R84R	NM_007022	NP_008953	O14569	C56D2_HUMAN	cytochrome b-561 domain containing 2	84	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCGAGCACGCTGCCACTGGG	0.597													T	50390758	C	T	50390758	2	4	230	1	0	0	0	0	0	0	0	1	4121	784	28	2		2	CYB561D2	3	50390758	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1774064	50390758	147631672	117	116291											
RAD54L2	23132	broad.mit.edu	37	chr3	51669622	51669622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcaggacgatggcatctCgtgctaaagtgatggctgat	13	8	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:51669622C>T	uc011bdt.1	+	9	1281	c.1156C>T	c.(1156-1158)CGT>TGT	p.R386C	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_Missense_Mutation_p.R80C|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	386	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GATGGCATCTCGTGCTAAAGT	0.458													T	51669622	C	T	51669622	3	4	230	1	0	0	0	0	1	0	0	0	12994	884	31	1	1186	1	RAD54L2	3	51669622	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1278864	51669622	146352808	118	116292											
STAB1	23166	broad.mit.edu	37	chr3	52551026	52551026	+	Frame_Shift_Del	DEL	G	G	-													acccctgcgcccacggccatGggggctgctcccctcatgcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:52551026delG	uc003dej.2	+	42	4464	c.4390delG	c.(4390-4392)GGGfs	p.G1464fs	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1464	Extracellular (Potential).|EGF-like 11.				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		CCACGGCCATGGGGGCTGCTC	0.682													-	52551026	G	-	52551026	7	5	230	1	0	1	0	1	0	0	0	0	15236	1348	47	0	4556	0	STAB1	3	52551026	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	881404	52551026	145471404	119	116293											
CADM2	253559	broad.mit.edu	37	chr3	85932472	85932472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggatcgagctggttcgCgcttcctggcatgaattgag	13	8	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:85932472C>T	uc003dqj.2	+	3	869	c.243C>T	c.(241-243)CGC>CGT	p.R81R	CADM2_uc003dqk.2_Silent_p.R90R|CADM2_uc003dql.2_Silent_p.R83R	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	81	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		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)		AGCTGGTTCGCGCTTCCTGGC	0.373													T	85932472	C	T	85932472	2	4	230	1	0	0	0	0	0	0	0	1	2567	755	27	1		1	CADM2	3	85932472	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	33381446	85932472	112089958	120	116294											
COL8A1	1295	broad.mit.edu	37	chr3	99514765	99514765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgcaaggggggcaacGtgtgggttgctctattcaag	14	8	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:99514765G>A	uc003dtg.1	+	5	2265	c.2020G>A	c.(2020-2022)GTG>ATG	p.V674M	COL8A1_uc003dth.1_Missense_Mutation_p.V674M|COL8A1_uc003dti.1_Missense_Mutation_p.V675M	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	674	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						GGGGGGCAACGTGTGGGTTGC	0.537													A	99514765	G	A	99514765	3	1	230	1	0	0	0	0	1	0	0	0	3705	1145	40	1	2026	1	COL8A1	3	99514765	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	13582293	99514765	98507665	121	116295											
BBX	56987	broad.mit.edu	37	chr3	107517482	107517482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaacctttggtgggcagCcaaaagagaaaagcaaggaa	12	7	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:107517482C>T	uc010hpr.2	+	16	2793	c.2466C>T	c.(2464-2466)AGC>AGT	p.S822S	BBX_uc003dwk.3_Silent_p.S792S|BBX_uc003dwl.3_Missense_Mutation_p.A486V|BBX_uc003dwm.3_Silent_p.S792S|BBX_uc003dwo.3_Missense_Mutation_p.A142V	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGGTGGGCAGCCAAAAGAGAA	0.463													T	107517482	C	T	107517482	2	4	230	1	0	0	0	0	0	0	0	1	1343	738	26	2		2	BBX	3	107517482	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	8002717	107517482	90504948	122	116296											
PHLDB2	90102	broad.mit.edu	37	chr3	111603826	111603826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtaatagacaatgacaattAccttaatttttcttctttga	4	7	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:111603826A>G	uc010hqa.2	+	2	1313	c.902A>G	c.(901-903)TAC>TGC	p.Y301C	PHLDB2_uc003dyc.2_Missense_Mutation_p.Y328C|PHLDB2_uc003dyd.2_Missense_Mutation_p.Y301C|PHLDB2_uc003dyg.2_Missense_Mutation_p.Y301C|PHLDB2_uc003dyh.2_Missense_Mutation_p.Y301C|PHLDB2_uc003dye.3_Missense_Mutation_p.Y301C|PHLDB2_uc003dyf.3_Missense_Mutation_p.Y301C	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	301						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						AATGACAATTACCTTAATTTT	0.433													G	111603826	A	G	111603826	3	3	230	1	0	0	0	0	1	0	0	0	11852	391	14	3	989	3	PHLDB2	3	111603826	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	4086344	111603826	86418604	123	116297											
ATG3	64422	broad.mit.edu	37	chr3	112277267	112277267	+	Splice_Site	DEL	A	A	-													ttccttaaactttgattcctAaaaaaagcagaaagaaaaac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:112277266_112277266TA>T	uc003dzd.3	-	2	183	c.73_splice	c.e2-1	p.E25_splice	ATG3_uc003dzc.3_Splice_Site_p.E25_splice|ATG3_uc010hqe.3_Splice_Site_p.E25_splice	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA.	25					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTTTGATTCCTAAAAAAAGCA	0.323													-	112277267	A	-	112277267	8	5	230	1	0	1	0	1	0	0	1	0	1095	377	13	0		0	ATG3	3	112277267	Splice_Site	DEL	A	TCGA-D7-A4YY-01A-11D-A25D-08	673441	112277267	85745163	124	116298											
NR1I2	8856	broad.mit.edu	37	chr3	119533867	119533867	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatctccctgctgaagggggCcgctttcgagctgtgtcaac	13	12	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:119533867C>G	uc003edj.2	+	6	2675	c.836C>G	c.(835-837)GCC>GGC	p.A279G	NR1I2_uc003edi.2_Missense_Mutation_p.A242G|NR1I2_uc003edk.2_Missense_Mutation_p.A318G|NR1I2_uc003edl.2_Missense_Mutation_p.A167G	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	279	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			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTGAAGGGGGCCGCTTTCGAG	0.607													G	119533867	C	G	119533867	3	3	230	1	0	0	0	0	1	0	0	0	10620	739	26	5	975	5	NR1I2	3	119533867	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	7256600	119533867	78488563	125	116299											
DIRC2	84925	broad.mit.edu	37	chr3	122545714	122545714	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatgaatgcagcaccatttCtctctacgacgtggttttct	7	10	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:122545714C>T	uc003efw.3	+	3	644	c.505C>T	c.(505-507)CTC>TTC	p.L169F	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.L7F	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	169	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		AGCACCATTTCTCTCTACGAC	0.423													T	122545714	C	T	122545714	3	4	230	1	0	0	0	0	1	0	0	0	4534	913	32	4	515	4	DIRC2	3	122545714	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3011847	122545714	75476716	126	116300											
PDIA5	10954	broad.mit.edu	37	chr3	122869089	122869090	+	Frame_Shift_Ins	INS	-	-	C													gcttcttgcagccctgaggcINSccccccgcccccagagccca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:122869088_122869089G>GC	uc003egc.2	+	13	1306_1307	c.1150_1151G>GC	c.(1150-1152)gccfs	p.A384fs	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	384	Thioredoxin 2.|Thioredoxin 3.				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)		CAGCCCTGAGGCCCCCCCGCCC	0.604													C	122869090	-	C	122869089	7	5	230	1	0	1	1	0	0	0	0	0	11671	739	26	0	1205	0	PDIA5	3	122869089	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	323375	122869089	75153341	127	116301											
ZNF148	7707	broad.mit.edu	37	chr3	125007067	125007067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtaatttcctgctttacGcttatctgtttaaaaaaaga	5	6	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:125007067G>A	uc003ehx.3	-	5	825	c.339C>T	c.(337-339)AGC>AGT	p.S113S	ZNF148_uc003ehz.3_Silent_p.S113S|ZNF148_uc010hsa.2_Silent_p.S113S|ZNF148_uc003eia.3_Silent_p.S113S|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	113					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			skin(2)|ovary(1)|pancreas(1)	4						CCTGCTTTACGCTTATCTGTT	0.323													A	125007067	G	A	125007067	2	1	230	1	0	0	0	0	0	0	0	1	17731	1078	38	1		1	ZNF148	3	125007067	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2137978	125007067	73015363	128	116302											
CHST13	166012	broad.mit.edu	37	chr3	126260936	126260936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcccttcgagcgcctgGcatcggcttaccgcaacaag	13	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:126260936G>A	uc003eja.2	+	3	541	c.541G>A	c.(541-543)GCA>ACA	p.A181T		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	181	PAPS (By similarity).|Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		CGAGCGCCTGGCATCGGCTTA	0.632													A	126260936	G	A	126260936	3	1	230	1	0	0	0	0	1	0	0	0	3401	1203	42	2	551	2	CHST13	3	126260936	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1253869	126260936	71761494	129	116303											
CHCHD6	84303	broad.mit.edu	37	chr3	126676385	126676385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcgctgcgtgagcgcCgcccacaaggtaaggccttg	13	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:126676385C>T	uc003ejf.1	+	7	731	c.693C>T	c.(691-693)GCC>GCT	p.A231A	CHCHD6_uc010hsj.1_Silent_p.A232A	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain	231	CHCH.										0						GCGTGAGCGCCGCCCACAAGG	0.607													T	126676385	C	T	126676385	2	4	230	1	0	0	0	0	0	0	0	1	3320	639	23	1		1	CHCHD6	3	126676385	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	415449	126676385	71346045	130	116304											
COPG	22820	broad.mit.edu	37	chr3	128984519	128984519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcgagttcacagtgcTggccacccgtattctacatc	10	13	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:128984519T>C	uc003els.2	+	14	1452	c.1352T>C	c.(1351-1353)CTG>CCG	p.L451P	COPG_uc010htb.2_Missense_Mutation_p.L357P	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	451					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TTCACAGTGCTGGCCACCCGT	0.532													C	128984519	T	C	128984519	3	2	230	1	0	0	0	0	1	0	0	0	3731	1580	55	3	1406	3	COPG	3	128984519	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	2308134	128984519	69037911	131	116305											
PLXND1	23129	broad.mit.edu	37	chr3	129324787	129324787	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatctcgggcgtgttctcGaagcggtggtcctccaggct	15	12	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:129324787G>A	uc003emx.2	-	1	796	c.696C>T	c.(694-696)TTC>TTT	p.F232F		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	232	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GCGTGTTCTCGAAGCGGTGGT	0.607													A	129324787	G	A	129324787	2	1	230	1	0	0	0	0	0	0	0	1	12127	1049	37	1		1	PLXND1	3	129324787	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	340268	129324787	68697643	132	116306											
C3orf36	80111	broad.mit.edu	37	chr3	133647584	133647584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagccgggactaggctgaGcccactactcacagcctggg	14	13	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:133647584G>T	uc003epz.1	-	1	1073	c.64C>A	c.(64-66)CTC>ATC	p.L22I		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	22										ovary(1)	1						ACTAGGCTGAGCCCACTACTC	0.473													T	133647584	G	T	133647584	3	4	230	1	0	0	0	0	1	0	0	0	2226	971	34	5	437	5	C3orf36	3	133647584	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4322797	133647584	64374846	133	116307											
EPHB1	2047	broad.mit.edu	37	chr3	134670649	134670649	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggagcctgtatgtctcttcTttctgtccgtgtcttcttca	8	11	6	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:134670649T>A	uc003eqt.2	+	3	780	c.560T>A	c.(559-561)CTT>CAT	p.L187H	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	187	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						ATGTCTCTTCTTTCTGTCCGT	0.453													A	134670649	T	A	134670649	3	1	230	1	0	0	0	0	1	0	0	0	5174	1609	56	5	570	5	EPHB1	3	134670649	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1023065	134670649	63351781	134	116308											
FOXL2	668	broad.mit.edu	37	chr3	138665453	138665453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccgccgccacccccacCgcccttgcctgggctcggcg	11	22	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:138665453C>T	uc003esw.2	-	1	530	c.112G>A	c.(112-114)GGT>AGT	p.G38S	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	38	Poly-Gly.				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			ovary(266)|large_intestine(1)|skin(1)	268						CCACCCCCACCGCCCTTGCCT	0.751			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III						T	138665453	C	T	138665453	3	4	230	1	0	0	0	0	1	0	0	0	6017	652	23	1	1022	1	FOXL2	3	138665453	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3994804	138665453	59356977	135	116309											
PRR23B	389151	broad.mit.edu	37	chr3	138739336	138739336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccactatggaggtgagCgcgtccacggccgggtcccc	15	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:138739336C>T	uc003esy.1	-	1	433	c.168G>A	c.(166-168)GCG>GCA	p.A56A		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	56										breast(1)	1						TGGAGGTGAGCGCGTCCACGG	0.746													T	138739336	C	T	138739336	2	4	230	1	0	0	0	0	0	0	0	1	12595	755	27	1		1	PRR23B	3	138739336	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	73883	138739336	59283094	136	116310											
COPB2	9276	broad.mit.edu	37	chr3	139096964	139096964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgcataacataatgggtGtgtccttcaaacacttgtga	8	8	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:139096964G>A	uc003etf.3	-	5	553	c.423C>T	c.(421-423)CAC>CAT	p.H141H	COPB2_uc011bmv.1_Silent_p.H112H|COPB2_uc010hui.2_Silent_p.H112H|COPB2_uc011bmw.1_Silent_p.H141H	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	141	WD 4.				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			ovary(2)	2						CATAATGGGTGTGTCCTTCAA	0.413													A	139096964	G	A	139096964	2	1	230	1	0	0	0	0	0	0	0	1	3729	1368	48	4		4	COPB2	3	139096964	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	357628	139096964	58925466	137	116311											
GPR171	29909	broad.mit.edu	37	chr3	150916403	150916403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtgaaatcctggttgaGcaatcagttatgacttctgt	10	6	2	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:150916403G>A	uc003eyq.3	-	3	1011	c.771C>T	c.(769-771)TGC>TGT	p.C257C	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_013308	NP_037440	O14626	GP171_HUMAN	G protein-coupled receptor 171	257	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTGGTTGAGCAATCAGTTA	0.458													A	150916403	G	A	150916403	2	1	230	1	0	0	0	0	0	0	0	1	6668	963	34	2		2	GPR171	3	150916403	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	11819439	150916403	47106027	138	116312											
TIPARP	25976	broad.mit.edu	37	chr3	156395504	156395504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatggaaatggaaaccacCgaacctgagccagactgtgt	10	9	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:156395504C>T	uc003fav.2	+	2	266	c.18C>T	c.(16-18)ACC>ACT	p.T6T	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.T6T	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	6							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGAAACCACCGAACCTGAGC	0.448													T	156395504	C	T	156395504	2	4	230	1	0	0	0	0	0	0	0	1	15921	639	23	1		1	TIPARP	3	156395504	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	5479101	156395504	41626926	139	116313											
PHC3	80012	broad.mit.edu	37	chr3	169820467	169820469	+	In_Frame_Del	DEL	TCT	TCT	-													aatcttcatgagaagccaagTcttcttctgcagatggataa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:169820466_169820468GTCT>G	uc003fgl.2	-	13	2666_2668	c.2632_2634AGAC>C	c.(2632-2634)gac>C	p.D878del	PHC3_uc010hws.1_In_Frame_Del_p.D866del|PHC3_uc011bpq.1_In_Frame_Del_p.816_817KT>N	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	866					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAGAAGCCAAGTCTTCTTCTGCA	0.438													-	169820469	TCT	-	169820467	7	5	230	1	0	1	0	1	0	0	0	0	11818	1667	58	0	362	0	PHC3	3	169820467	In_Frame_Del	DEL	TCT	TCGA-D7-A4YY-01A-11D-A25D-08	13424963	169820467	28201963	140	116314											
HTR3E	285242	broad.mit.edu	37	chr3	183824403	183824403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagttcagccacgcgatGgacgccatgctcttccgcct	10	15	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:183824403G>T	uc010hxq.2	+	9	1759	c.1293G>T	c.(1291-1293)ATG>ATT	p.M431I	HTR3E_uc003fml.3_Missense_Mutation_p.M416I|HTR3E_uc003fmm.2_Missense_Mutation_p.M446I|HTR3E_uc010hxr.2_Missense_Mutation_p.M457I|HTR3E_uc003fmn.2_Missense_Mutation_p.M431I	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	431	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCACGCGATGGACGCCATGC	0.592													T	183824403	G	T	183824403	3	4	230	1	0	0	0	0	1	0	0	0	7448	1348	47	5	1368	5	HTR3E	3	183824403	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	14003936	183824403	14198027	141	116315											
EHHADH	1962	broad.mit.edu	37	chr3	184953084	184953084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttggttgttacctctgcGtgggcaatcctatagtgaca	11	10	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr3:184953084G>A	uc003fpf.2	-	3	372	c.345C>T	c.(343-345)CAC>CAT	p.H115H	EHHADH_uc011brs.1_Silent_p.H19H	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	115	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	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)	TTACCTCTGCGTGGGCAATCC	0.488													A	184953084	G	A	184953084	2	1	230	1	0	0	0	0	0	0	0	1	4982	1136	40	1		1	EHHADH	3	184953084	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1128681	184953084	13069346	142	116316											
PCGF3	10336	broad.mit.edu	37	chr4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-													attgtgatccaccagagccaCcccctgcagtacatcgggtg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:728799delC	uc011bva.1	+	6	664	c.189delC	c.(187-189)CACfs	p.H63fs	PCGF3_uc003gbc.1_RNA|PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Frame_Shift_Del_p.H63fs|PCGF3_uc010ibh.2_Frame_Shift_Del_p.H63fs|PCGF3_uc003gbg.1_Frame_Shift_Del_p.H29fs|PCGF3_uc003gbh.2_Frame_Shift_Del_p.H29fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						ACCAGAGCCACCCCCTGCAGT	0.607													-	728799	C	-	728799	7	5	230	1	0	1	0	1	0	0	0	0	11576	506	18	0	195	0	PCGF3	4	728799	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08		728799	190425477	143	116317											
JAKMIP1	152789	broad.mit.edu	37	chr4	6087300	6087300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctgcccagcctgcacGccaagttccttctccaaggc	10	16	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:6087300G>A	uc003giu.3	-	4	957	c.681C>T	c.(679-681)GGC>GGT	p.G227G	JAKMIP1_uc010idb.1_Silent_p.G227G|JAKMIP1_uc010idc.1_Silent_p.G62G|JAKMIP1_uc010idd.1_Silent_p.G227G|JAKMIP1_uc011bwc.1_Silent_p.G62G|JAKMIP1_uc003giv.3_Silent_p.G227G|JAKMIP1_uc010ide.2_Silent_p.G227G	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	227	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CAGCCTGCACGCCAAGTTCCT	0.537													A	6087300	G	A	6087300	2	1	230	1	0	0	0	0	0	0	0	1	7940	1074	38	1		1	JAKMIP1	4	6087300	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	5358501	6087300	185066976	144	116318											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107371	6107371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccaggatctcctgctgCagccgcaggcgctctccatc	10	17	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:6107371C>T	uc003giu.3	-	3	729	c.453G>A	c.(451-453)CTG>CTA	p.L151L	JAKMIP1_uc010idb.1_Silent_p.L151L|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.L151L|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.L151L|JAKMIP1_uc010ide.2_Silent_p.L151L	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	151	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						TCTCCTGCTGCAGCCGCAGGC	0.687													T	6107371	C	T	6107371	2	4	230	1	0	0	0	0	0	0	0	1	7940	697	25	2		2	JAKMIP1	4	6107371	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	20071	6107371	185046905	145	116319											
LAP3	51056	broad.mit.edu	37	chr4	17579176	17579176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccggagtctctccaccGcagacatgacgaaggtgaga	14	11	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:17579176G>A	uc003gph.1	+	1	250	c.88G>A	c.(88-90)GCA>ACA	p.A30T	LAP3_uc010ieg.2_Missense_Mutation_p.A30T	NM_015907	NP_056991	P28838	AMPL_HUMAN	leucine aminopeptidase 3	30					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding				0						TCTCTCCACCGCAGACATGAC	0.692													A	17579176	G	A	17579176	3	1	230	1	0	0	0	0	1	0	0	0	8623	1087	38	1	90	1	LAP3	4	17579176	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	11471805	17579176	173575100	146	116320											
APBB2	323	broad.mit.edu	37	chr4	40946923	40946923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcgttacagaactaagtgAccctttcctagaaccctgga	9	11	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:40946923A>G	uc003gvl.2	-	7	1630	c.1000T>C	c.(1000-1002)TCA>CCA	p.S334P	APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Missense_Mutation_p.S334P|APBB2_uc003gvn.2_Missense_Mutation_p.S335P|APBB2_uc011byt.1_Missense_Mutation_p.S317P	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	334					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			ovary(2)|large_intestine(1)	3						GAACTAAGTGACCCTTTCCTA	0.493													G	40946923	A	G	40946923	3	3	230	1	0	0	0	0	1	0	0	0	761	275	10	3	1324	3	APBB2	4	40946923	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	23367747	40946923	150207353	147	116321											
DCUN1D4	23142	broad.mit.edu	37	chr4	52765513	52765513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattctacaaactttaaacTtatttacagatatgcgtttg	5	6	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:52765513T>G	uc003gze.2	+	8	717	c.584T>G	c.(583-585)CTT>CGT	p.L195R	DCUN1D4_uc003gzf.2_Missense_Mutation_p.L195R|DCUN1D4_uc011bzn.1_Missense_Mutation_p.L135R|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Missense_Mutation_p.L239R	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain	195	DCUN1.									ovary(2)	2			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AACTTTAAACTTATTTACAGA	0.353													G	52765513	T	G	52765513	3	3	230	1	0	0	0	0	1	0	0	0	4316	1609	56	5	614	5	DCUN1D4	4	52765513	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	11818590	52765513	138388763	148	116322											
CCDC158	339965	broad.mit.edu	37	chr4	77317535	77317535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaggagaatcaagttccaCttcatatttagggaaaaaag	8	6	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:77317535C>T	uc003hkb.3	-	3	328	c.175G>A	c.(175-177)GTG>ATG	p.V59M	CCDC158_uc003hkd.2_Missense_Mutation_p.V59M	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	59										skin(3)|ovary(2)|pancreas(1)	6						TCAAGTTCCACTTCATATTTA	0.358													T	77317535	C	T	77317535	3	4	230	1	0	0	0	0	1	0	0	0	2790	565	20	4	3254	4	CCDC158	4	77317535	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	24552022	77317535	113836741	149	116323											
NKX6-1	4825	broad.mit.edu	37	chr4	85419145	85419145	+	Frame_Shift_Del	DEL	C	C	-													gggctgccgagggatgagagCccccccgtggccgggggctt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:85419145delC	uc003hpa.1	-	1	243	c.237delG	c.(235-237)GGGfs	p.G79fs		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	79					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					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GGGATGAGAGCCCCCCCGTGG	0.542													-	85419145	C	-	85419145	7	5	230	1	0	1	0	1	0	0	0	0	10457	726	26	0	878	0	NKX6-1	4	85419145	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	8101610	85419145	105735131	150	116324											
PKD2	5311	broad.mit.edu	37	chr4	88986559	88986560	+	Frame_Shift_Ins	INS	-	-	A													tttggtcaaactaaaactgaINSaaaaaaataccgtggatgac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:88986558_88986559G>GA	uc003hre.3	+	10	2238_2239	c.2151_2152G>GA	c.(2149-2154)ctgaaafs	p.L717fs	PKD2_uc011cdf.2_Frame_Shift_Ins_p.L135fs|PKD2_uc011cdg.2_Frame_Shift_Ins_p.L43fs|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	717	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)		AACTAAAACTGAAAAAAAATAC	0.386													A	88986560	-	A	88986559	7	5	230	1	0	1	1	0	0	0	0	0	11966	247	9	0	2194	0	PKD2	4	88986559	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	3567414	88986559	102167717	151	116325											
GSTCD	79807	broad.mit.edu	37	chr4	106640591	106640591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatcagaaaagcaaaagcCtccgaccttccacctctgga	6	15	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:106640591C>A	uc003hxz.3	+	3	873	c.801C>A	c.(799-801)GCC>GCA	p.A267A	GSTCD_uc003hxx.2_Silent_p.A267A|GSTCD_uc003hxy.3_Silent_p.A180A|GSTCD_uc011cfb.1_Intron|GSTCD_uc010ils.1_Silent_p.A267A	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	267	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAGCAAAAGCCTCCGACCTTC	0.473													A	106640591	C	A	106640591	2	1	230	1	0	0	0	0	0	0	0	1	6835	668	24	5		5	GSTCD	4	106640591	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	17654032	106640591	84513685	152	116326											
KIAA1109	84162	broad.mit.edu	37	chr4	123140538	123140547	+	Frame_Shift_Del	DEL	AGGTTATCTC	AGGTTATCTC	-													catgtatatggattttgaagAggttatctcaagtcctgttt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:123140537_123140546GAGGTTATCTC>G	uc003ieh.3	+	18	2335_2344	c.2290_2299GAGGTTATCTC>G	c.(2290-2301)gaggttatctcafs	p.E764fs	KIAA1109_uc003iei.1_Frame_Shift_Del_p.E518fs|KIAA1109_uc010ins.1_Frame_Shift_Del_p.E108fs|KIAA1109_uc003iej.1_Frame_Shift_Del_p.E149fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	764					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						GGATTTTGAAGAGGTTATCTCAAGTCCTGT	0.352													-	123140547	AGGTTATCTC	-	123140538	7	5	230	1	0	1	0	1	0	0	0	0	8208	304	11	0	2365	0	KIAA1109	4	123140538	Frame_Shift_Del	DEL	AGGTTATCTC	TCGA-D7-A4YY-01A-11D-A25D-08	16499947	123140538	68013738	153	116327											
FAT4	79633	broad.mit.edu	37	chr4	126238850	126238850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccagcgccttggaccgCgagcgcatcccttcctacaa	11	16	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:126238850C>T	uc003ifj.3	+	1	1284	c.1284C>T	c.(1282-1284)CGC>CGT	p.R428R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	428	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCTTGGACCGCGAGCGCATCC	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126238850	C	T	126238850	2	4	230	1	0	0	0	0	0	0	0	1	5692	755	27	1		1	FAT4	4	126238850	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3098312	126238850	64915426	154	116328											
FAT4	79633	broad.mit.edu	37	chr4	126241256	126241256	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaatctgacacaagtgttAagagtatctgcctcagatgt	9	9	3	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:126241256A>C	uc003ifj.3	+	1	3690	c.3690A>C	c.(3688-3690)TTA>TTC	p.L1230F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1230	Cadherin 12.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACAAGTGTTAAGAGTATCTG	0.323													C	126241256	A	C	126241256	3	2	230	1	0	0	0	0	1	0	0	0	5692	359	13	5	3692	5	FAT4	4	126241256	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	2406	126241256	64913020	155	116329											
FAT4	79633	broad.mit.edu	37	chr4	126373025	126373025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacagtctcggacggtggaGatatttgttaattattatgg	11	5	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:126373025G>T	uc003ifj.3	+	9	10854	c.10854G>T	c.(10852-10854)GAG>GAT	p.E3618D	FAT4_uc011cgp.1_Missense_Mutation_p.E1916D|FAT4_uc003ifi.1_Missense_Mutation_p.E1096D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3618	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGACGGTGGAGATATTTGTTA	0.433													T	126373025	G	T	126373025	3	4	230	1	0	0	0	0	1	0	0	0	5692	933	33	5	10888	5	FAT4	4	126373025	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	131769	126373025	64781251	156	116330											
PCDH10	57575	broad.mit.edu	37	chr4	134072270	134072270	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagagcccagtgtaccaAgtgtacgtgcaagccaagga	13	9	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:134072270A>G	uc003iha.2	+	1	1801	c.975A>G	c.(973-975)CAA>CAG	p.Q325Q	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.Q325Q	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	325	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGTGTACCAAGTGTACGTGC	0.607													G	134072270	A	G	134072270	2	3	230	1	0	0	0	0	0	0	0	1	11507	69	3	3		3	PCDH10	4	134072270	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	7699245	134072270	57082006	157	116331											
TBC1D9	23158	broad.mit.edu	37	chr4	141592064	141592064	+	Frame_Shift_Del	DEL	T	T	-													gcacactggagctgtctgccTtttccacaattgtcacctga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:141592064delT	uc010ioj.2	-	7	1348	c.1076delA	c.(1075-1077)AAGfs	p.K359fs		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	359	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGTCTGCCTTTTCCACAAT	0.453													-	141592064	T	-	141592064	7	5	230	1	0	1	0	1	0	0	0	0	15624	1609	56	0	2784	0	TBC1D9	4	141592064	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	7519794	141592064	49562212	158	116332											
DCHS2	54798	broad.mit.edu	37	chr4	155157276	155157276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtatttattgccatttTcatagtcaaggatttgctta	8	6	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:155157276T>C	uc003inw.2	-	25	7163	c.7163A>G	c.(7162-7164)GAA>GGA	p.E2388G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2388	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATTGCCATTTTCATAGTCAAG	0.418													C	155157276	T	C	155157276	3	2	230	1	0	0	0	0	1	0	0	0	4288	1783	62	3	1591	3	DCHS2	4	155157276	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	13565212	155157276	35997000	159	116333											
DCHS2	54798	broad.mit.edu	37	chr4	155219587	155219587	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccattcaggccttcatccTtgtccacagctgaaagcaca	7	15	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:155219587T>G	uc003inw.2	-	18	4514	c.4514A>C	c.(4513-4515)AAG>ACG	p.K1505T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1505	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCCTTCATCCTTGTCCACAGC	0.458													G	155219587	T	G	155219587	3	3	230	1	0	0	0	0	1	0	0	0	4288	1609	56	5	4268	5	DCHS2	4	155219587	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	62311	155219587	35934689	160	116334											
ACCN5	51802	broad.mit.edu	37	chr4	156751149	156751149	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattcaataatttctatgatCgtgatcagactggccccaca	6	10	3	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:156751149C>T	uc003ipe.1	-	10	1424	c.1377G>A	c.(1375-1377)ACG>ACA	p.T459T		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	459	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		TTTCTATGATCGTGATCAGAC	0.358													T	156751149	C	T	156751149	2	4	230	1	0	0	0	0	0	0	0	1	132	871	31	1		1	ACCN5	4	156751149	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1531562	156751149	34403127	161	116335											
GLRA3	8001	broad.mit.edu	37	chr4	175649803	175649803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatattcactgtacgcgaggCggggatcattccatttctga	11	9	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:175649803C>T	uc003ity.1	-	4	817	c.314G>A	c.(313-315)CGC>CAC	p.R105H	GLRA3_uc003itz.1_Missense_Mutation_p.R105H	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	105	Extracellular (Probable).				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			ovary(3)	3		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)	GTACGCGAGGCGGGGATCATT	0.383													T	175649803	C	T	175649803	3	4	230	1	0	0	0	0	1	0	0	0	6456	768	27	1	1108	1	GLRA3	4	175649803	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	18898654	175649803	15504473	162	116336											
WDR17	116966	broad.mit.edu	37	chr4	177046415	177046415	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagattctgaatcactttcTtgcataacaacatttaatct	4	8	4	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:177046415T>A	uc003iuj.2	+	6	927	c.771T>A	c.(769-771)TCT>TCA	p.S257S	WDR17_uc003iuk.2_Silent_p.S233S|WDR17_uc003ium.3_Silent_p.S233S|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	257	WD 4.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		AATCACTTTCTTGCATAACAA	0.433													A	177046415	T	A	177046415	2	1	230	1	0	0	0	0	0	0	0	1	17274	1596	56	5		5	WDR17	4	177046415	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1396612	177046415	14107861	163	116337											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184368545	184368545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcgaggcctgtaaacttaCctccagcactaaaacatcct	5	13	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:184368545C>A	uc003ivp.1	+	3	1870	c.1708C>A	c.(1708-1710)CCT>ACT	p.P570T	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.P315T	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	570					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		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)		TGTAAACTTACCTCCAGCACT	0.343													A	184368545	C	A	184368545	3	1	230	1	0	0	0	0	1	0	0	0	3162	507	18	5	1718	5	CDKN2AIP	4	184368545	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	7322130	184368545	6785731	164	116338											
HELT	391723	broad.mit.edu	37	chr4	185940639	185940639	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtgcccatggccttggcGaagcaggtaacgttggcgac	14	11	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:185940639G>A	uc011ckq.1	+	2	258	c.258G>A	c.(256-258)GCG>GCA	p.A86A	HELT_uc011cko.1_Silent_p.A42A|HELT_uc003ixa.3_Silent_p.A42A|HELT_uc011ckp.1_5'UTR	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	86	Helix-loop-helix motif.						DNA binding				0		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)		TGGCCTTGGCGAAGCAGGTAA	0.632													A	185940639	G	A	185940639	2	1	230	1	0	0	0	0	0	0	0	1	7048	1045	37	1		1	HELT	4	185940639	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1572094	185940639	5213637	165	116339											
SORBS2	8470	broad.mit.edu	37	chr4	186583287	186583287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgctgcatgacaatgCtggagttgagtgaggctggg	17	7	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr4:186583287C>T	uc003iyl.2	-	5	923	c.65G>A	c.(64-66)AGC>AAC	p.S22N	SORBS2_uc003iyh.2_Missense_Mutation_p.S201N|SORBS2_uc011ckw.1_Missense_Mutation_p.S91N|SORBS2_uc003iyi.2_Missense_Mutation_p.S108N|SORBS2_uc011ckx.1_Missense_Mutation_p.S68N|SORBS2_uc003iyk.2_Missense_Mutation_p.S108N|SORBS2_uc003iym.2_Missense_Mutation_p.S122N|SORBS2_uc003iyn.1_Missense_Mutation_p.S68N|SORBS2_uc011cky.1_Missense_Mutation_p.S85N|SORBS2_uc003iyp.2_Missense_Mutation_p.S122N|SORBS2_uc003iyd.2_Missense_Mutation_p.S201N|SORBS2_uc003iye.2_Missense_Mutation_p.S22N|SORBS2_uc003iya.2_Missense_Mutation_p.S22N|SORBS2_uc003iyb.2_Missense_Mutation_p.S22N|SORBS2_uc003iyc.2_Missense_Mutation_p.S22N|SORBS2_uc003iyg.2_Missense_Mutation_p.S108N|SORBS2_uc003iyf.2_Missense_Mutation_p.S85N	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	22						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		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)		CATGACAATGCTGGAGTTGAG	0.502													T	186583287	C	T	186583287	3	4	230	1	0	0	0	0	1	0	0	0	14928	797	28	2	3645	2	SORBS2	4	186583287	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	642648	186583287	4570989	166	116340											
DNAH5	1767	broad.mit.edu	37	chr5	13719115	13719115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcatccagaggcggaaCgcatcatgtacaagctcagt	12	10	3	1	rs140284455		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:13719115C>T	uc003jfd.2	-	72	12417	c.12375G>A	c.(12373-12375)GCG>GCA	p.A4125A	DNAH5_uc003jfc.2_Silent_p.A293A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4125	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AGAGGCGGAACGCATCATGTA	0.493									Kartagener_syndrome				T	13719115	C	T	13719115	2	4	230	1	0	0	0	0	0	0	0	1	4604	523	19	1		1	DNAH5	5	13719115	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08		13719115	167196145	167	116341											
CDH12	1010	broad.mit.edu	37	chr5	21760759	21760759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggtgaaagatctcggTctgcagcactgactatctga	11	10	3	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:21760759T>C	uc010iuc.2	-	10	1999	c.1541A>G	c.(1540-1542)GAC>GGC	p.D514G	CDH12_uc011cno.1_Missense_Mutation_p.D474G|CDH12_uc003jgk.2_Missense_Mutation_p.D514G|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	514	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AAGATCTCGGTCTGCAGCACT	0.403										HNSCC(59;0.17)			C	21760759	T	C	21760759	3	2	230	1	0	0	0	0	1	0	0	0	3098	1667	58	3	855	3	CDH12	5	21760759	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	8041644	21760759	159154501	168	116342											
RXFP3	51289	broad.mit.edu	37	chr5	33937581	33937581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggtgatgggcgaggagCtgtgcctggtgcgtttcccg	17	9	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:33937581C>A	uc003jic.1	+	1	1093	c.736C>A	c.(736-738)CTG>ATG	p.L246M		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	246	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GGGCGAGGAGCTGTGCCTGGT	0.652													A	33937581	C	A	33937581	3	1	230	1	0	0	0	0	1	0	0	0	13761	796	28	5	738	5	RXFP3	5	33937581	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	12176822	33937581	146977679	169	116343											
BRIX1	55299	broad.mit.edu	37	chr5	34922810	34922810	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttttctagttcataccctCgctgaactgaagatgactgg	8	9	2	4	rs143239489	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:34922810C>T	uc003jja.2	+	6	471	c.447C>T	c.(445-447)CTC>CTT	p.L149L	BRIX1_uc011col.1_Silent_p.L149L	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	149	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						TTCATACCCTCGCTGAACTGA	0.323													T	34922810	C	T	34922810	2	4	230	1	0	0	0	0	0	0	0	1	1515	871	31	1		1	BRIX1	5	34922810	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	985229	34922810	145992450	170	116344											
HTR1A	3350	broad.mit.edu	37	chr5	63256881	63256881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgcggatgcggaagcgCgcagctcggaatatgcgccc	15	12	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:63256881C>T	uc011cqt.1	-	1	666	c.666G>A	c.(664-666)GCG>GCA	p.A222A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	222	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		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)	TGCGGAAGCGCGCAGCTCGGA	0.562													T	63256881	C	T	63256881	2	4	230	1	0	0	0	0	0	0	0	1	7436	755	27	1		1	HTR1A	5	63256881	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	28334071	63256881	117658379	171	116345											
GCNT4	51301	broad.mit.edu	37	chr5	74324983	74324984	+	Frame_Shift_Ins	INS	-	-	G													acaaatatctgaatgttatgINSggggggtgcttccttggaga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:74324982_74324983T>TG	uc003kdn.3	-	0	1742_1743	c.880_881A>CA	c.(880-882)catfs	p.H294fs		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													G	74324984	-	G	74324983	7	5	230	1	0	1	1	0	0	0	0	0	6303	1348	47	0	485	0	GCNT4	5	74324983	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	11068102	74324983	106590277	172	116346											
ACOT12	134526	broad.mit.edu	37	chr5	80689868	80689868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgctcagctcgccgcgCgcagtggcgtgcgccggctg	16	18	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:80689868C>T	uc003khl.3	-	1	121	c.66G>A	c.(64-66)GCG>GCA	p.A22A	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Silent_p.A22A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	22	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCTCGCCGCGCGCAGTGGCGT	0.582													T	80689868	C	T	80689868	2	4	230	1	0	0	0	0	0	0	0	1	150	755	27	1		1	ACOT12	5	80689868	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	6364885	80689868	100225392	173	116347											
GPR98	84059	broad.mit.edu	37	chr5	89948236	89948236	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaatgattctgctttgCagcctgggcaggagttctat	11	8	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:89948236C>T	uc003kju.2	+	19	3586	c.3490C>T	c.(3490-3492)CAG>TAG	p.Q1164*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1164	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TTCTGCTTTGCAGCCTGGGCA	0.378													T	89948236	C	T	89948236	4	4	230	1	0	0	0	0	0	1	0	0	6721	711	25	2	3564	2	GPR98	5	89948236	Nonsense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	9258368	89948236	90967024	174	116348											
POU5F2	134187	broad.mit.edu	37	chr5	93076713	93076713	+	Frame_Shift_Del	DEL	T	T	-													cttccacttccttcagccacTttttcagcagtggtcgcagc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:93076713delT	uc003kkl.1	-	1	597	c.557delA	c.(556-558)AAGfs	p.K186fs	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	186	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		CTTCAGCCACTTTTTCAGCAG	0.552													-	93076713	T	-	93076713	7	5	230	1	0	1	0	1	0	0	0	0	12283	1609	56	0	433	0	POU5F2	5	93076713	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	3128477	93076713	87838547	175	116349											
GPR150	285601	broad.mit.edu	37	chr5	94956654	94956654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcttcgcgcccctgccGcgctggcacctgcaggtcta	13	16	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:94956654G>A	uc003kle.1	+	1	675	c.675G>A	c.(673-675)CCG>CCA	p.P225P		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	225	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CGCCCCTGCCGCGCTGGCACC	0.517													A	94956654	G	A	94956654	2	1	230	1	0	0	0	0	0	0	0	1	6656	1074	38	1		1	GPR150	5	94956654	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1879941	94956654	85958606	176	116350											
FBN2	2201	broad.mit.edu	37	chr5	127681117	127681117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccgcgggggcacagcGtctcgtattccttggtgcca	13	15	1	0	rs150506063	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:127681117G>A	uc003kuu.2	-	24	3588	c.3149C>T	c.(3148-3150)ACG>ATG	p.T1050M	FBN2_uc003kuv.2_Missense_Mutation_p.T1017M	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1050	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	p.T1050M(1)		ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GGGGCACAGCGTCTCGTATTC	0.622													A	127681117	G	A	127681117	3	1	230	1	0	0	0	0	1	0	0	0	5703	1145	40	1	5757	1	FBN2	5	127681117	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	32724463	127681117	53234143	177	116351											
KIF3A	11127	broad.mit.edu	37	chr5	132070141	132070141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacaaccttcacattatcGcagctttctggcttctctga	5	13	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:132070141G>A	uc003kxo.2	-	2	190	c.36C>T	c.(34-36)TGC>TGT	p.C12C	KIF3A_uc003kxn.2_5'UTR|KIF3A_uc011cxf.1_Silent_p.C12C|KIF3A_uc003kxp.2_Silent_p.C12C	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	12	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCACATTATCGCAGCTTTCTG	0.368													A	132070141	G	A	132070141	2	1	230	1	0	0	0	0	0	0	0	1	8300	1079	38	1		1	KIF3A	5	132070141	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4389024	132070141	48845119	178	116352											
KDM3B	51780	broad.mit.edu	37	chr5	137727492	137727492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccatggggaatggccGctccagctcgcccaccagca	11	17	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:137727492G>A	uc003lcy.1	+	8	2371	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	KDM3B_uc010jew.1_Missense_Mutation_p.R380H|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	724	Ser-rich.				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			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GGGAATGGCCGCTCCAGCTCG	0.607													A	137727492	G	A	137727492	3	1	230	1	0	0	0	0	1	0	0	0	8127	1087	38	1	2201	1	KDM3B	5	137727492	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	5657351	137727492	43187768	179	116353											
PCDHB3	56132	broad.mit.edu	37	chr5	140481106	140481106	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagaaattcgcaaaacTtttcagctaaatccaattac	4	9	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:140481106T>G	uc003lio.2	+	1	873	c.873T>G	c.(871-873)ACT>ACG	p.T291T	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	291	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGCAAAACTTTTCAGCTAA	0.378													G	140481106	T	G	140481106	2	3	230	1	0	0	0	0	0	0	0	1	11543	1596	56	5		5	PCDHB3	5	140481106	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	2753614	140481106	40434154	180	116354											
PCDHB4	56131	broad.mit.edu	37	chr5	140502924	140502924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcaatgacaacgccccCgccttcacccaaacctccta	5	19	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:140502924C>T	uc003lip.1	+	1	1344	c.1344C>T	c.(1342-1344)CCC>CCT	p.P448P		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	448	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGCCCCCGCCTTCACCC	0.597													T	140502924	C	T	140502924	2	4	230	1	0	0	0	0	0	0	0	1	11544	639	23	1		1	PCDHB4	5	140502924	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	21818	140502924	40412336	181	116355											
PCDHB16	57717	broad.mit.edu	37	chr5	140563640	140563640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacctgcccctcgcctcCctggtctccatcaacgcaga	7	21	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:140563640C>T	uc003liv.2	+	1	2661	c.1506C>T	c.(1504-1506)TCC>TCT	p.S502S	PCDHB16_uc010jfw.1_Silent_p.S174S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	502	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.672													T	140563640	C	T	140563640	2	4	230	1	0	0	0	0	0	0	0	1	11541	610	22	4		4	PCDHB16	5	140563640	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	60716	140563640	40351620	182	116356											
DIAPH1	1729	broad.mit.edu	37	chr5	140953602	140953602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggaggaggagtggtActatccccaggagcaggtgg	20	6	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:140953602A>G	uc003llb.3	-	16	1956	c.1815T>C	c.(1813-1815)AGT>AGC	p.S605S	DIAPH1_uc003llc.3_Silent_p.S596S|DIAPH1_uc010jgc.1_Silent_p.S44S	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	605	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaggagTGGTACTATCCCCAG	0.438													G	140953602	A	G	140953602	2	3	230	1	0	0	0	0	0	0	0	1	4518	388	14	3		3	DIAPH1	5	140953602	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	389962	140953602	39961658	183	116357											
ARAP3	64411	broad.mit.edu	37	chr5	141060073	141060073	+	Splice_Site	DEL	G	G	-													tgggggctcaggccattgctGgggggaggggcagggtgaag							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:141060072_141060072TG>T	uc003llm.3	-	2	62	c.-16_splice	c.e2-1		ARAP3_uc003lln.3_Intron|ARAP3_uc003llo.1_5'UTR	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.						cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|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|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|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						AGGCCATTGCTGGGGGGAGGG	0.652													-	141060073	G	-	141060073	8	5	230	1	0	1	0	1	0	0	1	0	840	1363	47	0		0	ARAP3	5	141060073	Splice_Site	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	106471	141060073	39855187	184	116358											
POU4F3	5459	broad.mit.edu	37	chr5	145719806	145719806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagctcttcaacggcagCgaacggaagcgcaaacgcac	11	14	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:145719806C>T	uc003loa.2	+	2	905	c.816C>T	c.(814-816)AGC>AGT	p.S272S		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	272					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAACGGCAGCGAACGGAAGC	0.607													T	145719806	C	T	145719806	2	4	230	1	0	0	0	0	0	0	0	1	12280	767	27	1		1	POU4F3	5	145719806	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	4659733	145719806	35195454	185	116359											
DPYSL3	1809	broad.mit.edu	37	chr5	146777407	146777407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagatgttgtactctgccGcctagaggcaggggtgagaa	14	8	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:146777407G>A	uc003lon.1	-	12	1393	c.1283C>T	c.(1282-1284)GCG>GTG	p.A428V	DPYSL3_uc003loo.2_Missense_Mutation_p.A542V	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	428					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTCTGCCGCCTAGAGGCA	0.537													A	146777407	G	A	146777407	3	1	230	1	0	0	0	0	1	0	0	0	4748	1101	38	1	441	1	DPYSL3	5	146777407	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1057601	146777407	34137853	186	116360											
RNF145	153830	broad.mit.edu	37	chr5	158601053	158601053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcgagtactgaaataGgagtaaatctgaagagcaaa	10	5	2	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:158601053G>A	uc003lxp.2	-	6	1048	c.735C>T	c.(733-735)TCC>TCT	p.S245S	RNF145_uc011ddy.1_Silent_p.S259S|RNF145_uc003lxo.1_Silent_p.S273S|RNF145_uc011ddz.1_Silent_p.S262S|RNF145_uc010jiq.1_Silent_p.S275S|RNF145_uc011dea.1_Silent_p.S261S	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	245	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTGAAATAGGAGTAAATCT	0.413													A	158601053	G	A	158601053	2	1	230	1	0	0	0	0	0	0	0	1	13447	987	35	4		4	RNF145	5	158601053	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	11823646	158601053	22314207	187	116361											
ODZ2	57451	broad.mit.edu	37	chr5	167617365	167617365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtggattgtttggacCctgactgctgcctgcagtca	13	11	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:167617365C>A	uc010jjd.2	+	14	2566	c.2566C>A	c.(2566-2568)CCT>ACT	p.P856T	ODZ2_uc003lzr.3_Missense_Mutation_p.P633T|ODZ2_uc003lzt.3_Missense_Mutation_p.P229T|ODZ2_uc010jje.2_Missense_Mutation_p.P127T|uc003lzs.1_5'Flank	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTGTTTGGACCCTGACTGCTG	0.577													A	167617365	C	A	167617365	3	1	230	1	0	0	0	0	1	0	0	0	10835	623	22	5	2620	5	ODZ2	5	167617365	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	9016312	167617365	13297895	188	116362											
DOCK2	1794	broad.mit.edu	37	chr5	169141082	169141082	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatacctgacccttccttcTtatcgacaccatgtggaaaa	6	13	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:169141082T>G	uc003maf.2	+	18	1790	c.1710T>G	c.(1708-1710)TCT>TCG	p.S570S	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.S62S|DOCK2_uc010jjl.1_Silent_p.S88S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	570	DHR-1.				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			ovary(5)|pancreas(2)	7	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)			CCCTTCCTTCTTATCGACACC	0.562													G	169141082	T	G	169141082	2	3	230	1	0	0	0	0	0	0	0	1	4687	1596	56	5		5	DOCK2	5	169141082	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1523717	169141082	11774178	189	116363											
F12	2161	broad.mit.edu	37	chr5	176831539	176831539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccccagttccgcgctTgctcggcagtcacgttccgg	11	17	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:176831539T>C	uc003mgo.3	-	8	810	c.761A>G	c.(760-762)CAA>CGA	p.Q254R	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	254	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	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)			GTTCCGCGCTTGCTCGGCAGT	0.751									Hereditary_Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	176831539	T	C	176831539	3	2	230	1	0	0	0	0	1	0	0	0	5339	1812	63	3	1114	3	F12	5	176831539	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	7690457	176831539	4083721	190	116364											
ZNF454	285676	broad.mit.edu	37	chr5	178392714	178392714	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcagagaattcatactgggGaaaaaccttatacatgtaac	7	7	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:178392714G>T	uc003mjo.1	+	5	1580	c.1309G>T	c.(1309-1311)GAA>TAA	p.E437*	ZNF454_uc010jkz.1_Nonsense_Mutation_p.E437*	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCATACTGGGGAAAAACCTTA	0.408													T	178392714	G	T	178392714	4	4	230	1	0	0	0	0	0	1	0	0	17920	1175	41	5	1323	5	ZNF454	5	178392714	Nonsense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1561175	178392714	2522546	191	116365											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581083	178581083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcctgctggctgcagCgggaccagtggaagcggtgg	17	11	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr5:178581083C>T	uc003mjw.2	-	8	1349	c.1349G>A	c.(1348-1350)CGC>CAC	p.R450H	ADAMTS2_uc011dgm.1_Missense_Mutation_p.R450H	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	450	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		CTGGCTGCAGCGGGACCAGTG	0.697													T	178581083	C	T	178581083	3	4	230	1	0	0	0	0	1	0	0	0	265	768	27	1	2421	1	ADAMTS2	5	178581083	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	188369	178581083	2334177	192	116366											
ELOVL2	54898	broad.mit.edu	37	chr6	10995330	10995330	+	Frame_Shift_Del	DEL	T	T	-													aagaaaagtaatctgactcgTttttttccgcaaaacgaaga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:10995329_10995329GT>G	uc003mzp.4	-	4	577	c.416_416AC>C	c.(415-417)acgfs	p.T139fs		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	139					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)			AATCTGACTCGTTTTTTTCCG	0.363													-	10995330	T	-	10995330	7	5	230	1	0	1	0	1	0	0	0	0	5074	1725	60	0	491	0	ELOVL2	6	10995330	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08		10995330	160119737	193	116367											
RANBP9	10048	broad.mit.edu	37	chr6	13622721	13622721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctttggcagattgtggGtttctgaggaaaaataattt	12	3	1	2	rs112516735		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:13622721G>A	uc003nbb.2	-	14	2122	c.2063C>T	c.(2062-2064)ACC>ATC	p.T688I	RANBP9_uc003nba.2_Missense_Mutation_p.T347I	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	688	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CAGATTGTGGGTTTCTGAGGA	0.398													A	13622721	G	A	13622721	3	1	230	1	0	0	0	0	1	0	0	0	13032	1261	44	4	130	4	RANBP9	6	13622721	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2627391	13622721	157492346	194	116368											
RANBP9	10048	broad.mit.edu	37	chr6	13644826	13644826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcgatctccgataggaaatcGatctatctgtgcctggattt	9	9	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:13644826G>C	uc003nbb.2	-	6	1122	c.1063C>G	c.(1063-1065)CGA>GGA	p.R355G	RANBP9_uc003nba.2_Missense_Mutation_p.R14G	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	355					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATAGGAAATCGATCTATCTGT	0.393													C	13644826	G	C	13644826	3	2	230	1	0	0	0	0	1	0	0	0	13032	1066	37	5	1162	5	RANBP9	6	13644826	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	22105	13644826	157470241	195	116369											
NHLRC1	378884	broad.mit.edu	37	chr6	18122551	18122551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggggactggcgaagcGctgagcccaggagctctatg	17	12	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:18122551G>A	uc003ncl.1	-	1	301	c.287C>T	c.(286-288)GCG>GTG	p.A96V		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	96					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CTGGCGAAGCGCTGAGCCCAG	0.726													A	18122551	G	A	18122551	3	1	230	1	0	0	0	0	1	0	0	0	10405	1087	38	1	904	1	NHLRC1	6	18122551	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4477725	18122551	152992516	196	116370											
DCDC2	51473	broad.mit.edu	37	chr6	24178723	24178723	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatccagaatctcctcgacTtgctcaggggcatctgtagc	10	12	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:24178723T>G	uc003ndx.2	-	9	1463	c.1161A>C	c.(1159-1161)CAA>CAC	p.Q387H	DCDC2_uc003ndy.2_Missense_Mutation_p.Q387H|DCDC2_uc003ndw.2_Missense_Mutation_p.Q138H	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	387					cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				TCTCCTCGACTTGCTCAGGGG	0.512													G	24178723	T	G	24178723	3	3	230	1	0	0	0	0	1	0	0	0	4285	1606	56	5	277	5	DCDC2	6	24178723	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	6056172	24178723	146936344	197	116371											
GPLD1	2822	broad.mit.edu	37	chr6	24436860	24436860	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgccagtcatgtcaccaaGggtggtctctttgccattat	9	10	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:24436860G>C	uc003ned.1	-	22	2413	c.2302C>G	c.(2302-2304)CTT>GTT	p.L768V		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	768	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						ATGTCACCAAGGGTGGTCTCT	0.438													C	24436860	G	C	24436860	3	2	230	1	0	0	0	0	1	0	0	0	6614	1000	35	5	236	5	GPLD1	6	24436860	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	258137	24436860	146678207	198	116372											
BTN3A1	11119	broad.mit.edu	37	chr6	26409922	26409922	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagcaagagttgagagaaAtggcatggagcacaatgaag	15	4	0	5			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:26409922A>C	uc003nhv.2	+	5	1245	c.877A>C	c.(877-879)ATG>CTG	p.M293L	BTN3A1_uc011dkj.1_Missense_Mutation_p.M293L|BTN3A1_uc011dkk.1_Missense_Mutation_p.M241L|BTN3A1_uc010jqj.2_Missense_Mutation_p.M293L	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	293	Cytoplasmic (Potential).				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GTTGAGAGAAATGGCATGGAG	0.498													C	26409922	A	C	26409922	3	2	230	1	0	0	0	0	1	0	0	0	1562	101	4	5	891	5	BTN3A1	6	26409922	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	1973062	26409922	144705145	199	116373											
AGER	177	broad.mit.edu	37	chr6	32149201	32149201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctgtccccaggcctcCcaggatccccagggccaggg	15	17	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:32149201C>T	uc003oal.1	-	10	1069	c.1045G>A	c.(1045-1047)GGA>AGA	p.G349R	AGER_uc003oak.1_Missense_Mutation_p.G78R|AGER_uc003oar.2_Missense_Mutation_p.G248R|AGER_uc011dpm.1_Missense_Mutation_p.G239R|AGER_uc011dpn.1_Intron|AGER_uc010jtv.1_Intron|AGER_uc011dpo.1_Intron|AGER_uc003oam.1_RNA|AGER_uc003oan.1_Missense_Mutation_p.G297E|AGER_uc003oap.1_Missense_Mutation_p.G365R|AGER_uc003oat.1_Intron|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.G335R|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Intron|AGER_uc003oau.1_Intron	NM_001136	NP_001127	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific	349	Helical; (Potential).				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)	1						CCCAGGCCTCCCAGGATCCCC	0.627													T	32149201	C	T	32149201	3	4	230	1	0	0	0	0	1	0	0	0	379	632	22	4	177	4	AGER	6	32149201	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	5739279	32149201	138965866	200	116374											
HLA-DRA	3122	broad.mit.edu	37	chr6	32411022	32411024	+	In_Frame_Del	DEL	TCA	TCA	-													actgagagagcccaacgtccTcatctgtttcatagacaagt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:32411022_32411024delTCA	uc003obh.2	+	3	470_472	c.389_391delTCA	c.(388-393)CTCATC>CTC	p.I131del	HLA-DRA_uc003obi.2_Intron	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	131	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						CCCAACGTCCTCATCTGTTTCAT	0.512									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				-	32411024	TCA	-	32411022	7	5	230	1	0	1	0	1	0	0	0	0	7207	1551	54	0	399	0	HLA-DRA	6	32411022	In_Frame_Del	DEL	TCA	TCGA-D7-A4YY-01A-11D-A25D-08	261821	32411022	138704045	201	116375											
RING1	6015	broad.mit.edu	37	chr6	33178990	33178990	+	Frame_Shift_Del	DEL	G	G	-													atcagaccacaacgatgagtGggggggaaggagagcccggg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:33178989_33178989TG>T	uc003odk.3	+	4	704	c.510_510TG>T	c.(508-510)agtfs	p.S170fs	RING1_uc011dqx.1_Frame_Shift_Del_p.S170fs|RING1_uc003odl.3_Frame_Shift_Del_p.S141fs	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAG	0.617													-	33178990	G	-	33178990	7	5	230	1	0	1	0	1	0	0	0	0	13374	1348	47	0	525	0	RING1	6	33178990	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	767968	33178990	137936077	202	116376											
TAPBP	6892	broad.mit.edu	37	chr6	33273073	33273073	+	Frame_Shift_Del	DEL	G	G	-													gatgaggcggcctcggaggtGgggggcatgtaggcaaagct							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:33273073delG	uc003odx.1	-	4	732	c.561delC	c.(559-561)CCCfs	p.P187fs	TAPBP_uc010jus.1_Frame_Shift_Del_p.P205fs|TAPBP_uc003ody.2_Frame_Shift_Del_p.P187fs|TAPBP_uc003odz.2_Frame_Shift_Del_p.P187fs|TAPBP_uc010jut.1_Frame_Shift_Del_p.P100fs|TAPBP_uc011drc.1_Frame_Shift_Del_p.P187fs	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	187	Lumenal (Potential).				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			ovary(1)	1						CCTCGGAGGTGGGGGGCATGT	0.627													-	33273073	G	-	33273073	7	5	230	1	0	1	0	1	0	0	0	0	15549	1335	47	0	985	0	TAPBP	6	33273073	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	94083	33273073	137841994	203	116377											
ITPR3	3710	broad.mit.edu	37	chr6	33626517	33626517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgctggagaagaacgCcatgcgggtgactctggatg	16	9	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:33626517C>T	uc011drk.1	+	5	659	c.440C>T	c.(439-441)GCC>GTC	p.A147V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	147	MIR 1.|Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GAGAAGAACGCCATGCGGGTG	0.612													T	33626517	C	T	33626517	3	4	230	1	0	0	0	0	1	0	0	0	7922	739	26	2	458	2	ITPR3	6	33626517	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	353444	33626517	137488550	204	116378											
KCNK16	83795	broad.mit.edu	37	chr6	39282792	39282792	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctcagcttcccagtcCtttcttggatatggggaagt	12	10	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:39282792C>A	uc003ooq.2	-	6	930	c.916G>T	c.(916-918)GGA>TGA	p.G306*	KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_3'UTR|KCNK16_uc010jwy.2_Nonsense_Mutation_p.G259*	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	306	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						CTTCCCAGTCCTTTCTTGGAT	0.592													A	39282792	C	A	39282792	4	1	230	1	0	0	0	0	0	1	0	0	8063	690	24	5	17	5	KCNK16	6	39282792	Nonsense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	5656275	39282792	131832275	205	116379											
USP49	25862	broad.mit.edu	37	chr6	41774065	41774065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcgaggcagccgggccCgcgtcgcggggcgtgtgcag	22	13	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:41774065C>T	uc003ori.2	-	4	879	c.657G>A	c.(655-657)GCG>GCA	p.A219A		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	219					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			cagccgggcccgcgtcgcggg	0.567													T	41774065	C	T	41774065	2	4	230	1	0	0	0	0	0	0	0	1	17077	639	23	1		1	USP49	6	41774065	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2491273	41774065	129341002	206	116380											
TRERF1	55809	broad.mit.edu	37	chr6	42204007	42204007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagggcctgcaggggcGgcccctccgtgggagccagg	19	15	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:42204007G>A	uc003osd.2	-	16	3565	c.3002C>T	c.(3001-3003)CCG>CTG	p.P1001L	TRERF1_uc011duq.1_Missense_Mutation_p.P918L|TRERF1_uc003osb.2_Missense_Mutation_p.P757L|TRERF1_uc003osc.2_Missense_Mutation_p.P757L|TRERF1_uc003ose.2_Missense_Mutation_p.P1021L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1001	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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCAGGGGCGGCCCCTCCGT	0.612													A	42204007	G	A	42204007	3	1	230	1	0	0	0	0	1	0	0	0	16472	1116	39	1	612	1	TRERF1	6	42204007	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	429942	42204007	128911060	207	116381											
CUL9	23113	broad.mit.edu	37	chr6	43155045	43155045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgccgtacctccagccCgaacctcagaagaatgagag	9	14	1	3	rs61739541	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:43155045C>T	uc003ouk.2	+	6	1524	c.1449C>T	c.(1447-1449)CCC>CCT	p.P483P	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Silent_p.P483P|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	483					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						ACCTCCAGCCCGAACCTCAGA	0.542													T	43155045	C	T	43155045	2	4	230	1	0	0	0	0	0	0	0	1	4061	639	23	1		1	CUL9	6	43155045	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	951038	43155045	127960022	208	116382											
PKHD1	5314	broad.mit.edu	37	chr6	51637556	51637556	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggagttcttaggataAgcactgtaaagatgaacttt	10	6	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:51637556A>C	uc003pah.1	-	55	8862	c.8586T>G	c.(8584-8586)GCT>GCG	p.A2862A	PKHD1_uc010jzn.1_Silent_p.A845A|PKHD1_uc003pai.2_Silent_p.A2862A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2862	G8 2.|Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTTAGGATAAGCACTGTAAA	0.388													C	51637556	A	C	51637556	2	2	230	1	0	0	0	0	0	0	0	1	11971	59	3	5		5	PKHD1	6	51637556	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	8482511	51637556	119477511	209	116383											
MCM3	4172	broad.mit.edu	37	chr6	52147569	52147569	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctacgtagaactcctcataCtgcttggcataggtagcatc	8	12	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:52147569C>G	uc003pan.1	-	3	392	c.282G>C	c.(280-282)CAG>CAC	p.Q94H	MCM3_uc011dwu.1_Missense_Mutation_p.Q48H	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	94					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			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					ACTCCTCATACTGCTTGGCAT	0.532													G	52147569	C	G	52147569	3	3	230	1	0	0	0	0	1	0	0	0	9387	564	20	5	2204	5	MCM3	6	52147569	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	510013	52147569	118967498	210	116384											
GCM1	8521	broad.mit.edu	37	chr6	52998929	52998929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtagatcttgcgccccTcctctgcgagacagtcgcgg	12	14	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:52998929T>C	uc003pbp.2	-	3	478	c.269A>G	c.(268-270)GAG>GGG	p.E90G	GCM1_uc010jzr.2_Missense_Mutation_p.E90G	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	90	GCM.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					CTTGCGCCCCTCCTCTGCGAG	0.597													C	52998929	T	C	52998929	3	2	230	1	0	0	0	0	1	0	0	0	6297	1551	54	3	1057	3	GCM1	6	52998929	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	851360	52998929	118116138	211	116385											
KCNQ5	56479	broad.mit.edu	37	chr6	73904777	73904777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttgacatgggaggagaAactctgttgtctgtctgtcc	12	8	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:73904777A>C	uc003pgk.2	+	14	2786	c.2439A>C	c.(2437-2439)GAA>GAC	p.E813D	KCNQ5_uc011dyh.1_Missense_Mutation_p.E832D|KCNQ5_uc011dyi.1_Missense_Mutation_p.E823D|KCNQ5_uc010kat.2_Missense_Mutation_p.E804D|KCNQ5_uc011dyj.1_Missense_Mutation_p.E703D|KCNQ5_uc011dyk.1_Missense_Mutation_p.E563D	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	813					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGGAGGAGAAACTCTGTTGT	0.473													C	73904777	A	C	73904777	3	2	230	1	0	0	0	0	1	0	0	0	8086	11	1	5	2554	5	KCNQ5	6	73904777	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	20905848	73904777	97210290	212	116386											
ZBTB24	9841	broad.mit.edu	37	chr6	109787370	109787371	+	In_Frame_Ins	INS	-	-	GTAAGATTA													tggctgctgcgtgagcagggINStaagattagcagcctggtct							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:109787369_109787370G>GGTAAGATTA	uc003ptl.1	-	6	1946_1947	c.1778_1779C>TAATCTTACC	c.(1777-1779)acc>aTAATCTTACC	p.593_593T>IIL	MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_In_Frame_Ins_p.537_537T>IIL|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	593					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)		GCGTGAGCAGGGTAAGATTAGC	0.465													GTAAGATTA	109787371	-	GTAAGATTA	109787370	7	5	230	1	0	1	1	0	0	0	0	0	17528	1261	44	0	319	0	ZBTB24	6	109787370	In_Frame_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	35882593	109787370	61327697	213	116387											
RPF2	84154	broad.mit.edu	37	chr6	111336988	111336988	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccccacagtatcaaatatCcgcctggctggattagagta	10	11	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:111336988C>T	uc003pun.2	+	8	544	c.525C>T	c.(523-525)ATC>ATT	p.I175I	RPF2_uc003puo.2_Silent_p.I112I	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	175	Brix.					nucleolus	protein binding			ovary(2)	2						TATCAAATATCCGCCTGGCTG	0.343													T	111336988	C	T	111336988	2	4	230	1	0	0	0	0	0	0	0	1	13547	845	30	4		4	RPF2	6	111336988	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1549618	111336988	59778079	214	116388											
FYN	2534	broad.mit.edu	37	chr6	112024169	112024169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaccattgtcaagtttgcGaattttataatgtttgacat	6	7	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:112024169G>A	uc003pvj.2	-	7	956	c.616C>T	c.(616-618)CGC>TGC	p.R206C	FYN_uc003pvi.2_Missense_Mutation_p.R206C|FYN_uc003pvk.2_Missense_Mutation_p.R206C|FYN_uc003pvh.2_Missense_Mutation_p.R206C|FYN_uc010kdy.1_Missense_Mutation_p.R12C	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	206	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			lung(5)|central_nervous_system(1)|skin(1)	7		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)	TCAAGTTTGCGAATTTTATAA	0.408													A	112024169	G	A	112024169	3	1	230	1	0	0	0	0	1	0	0	0	6126	1058	37	1	1185	1	FYN	6	112024169	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	687181	112024169	59090898	215	116389											
C6orf174	387104	broad.mit.edu	37	chr6	127797312	127797312	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcgcccctaaggtcgTccagttccgccttcaggcct	9	16	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:127797312T>A	uc003qbd.2	-	6	2724	c.1859A>T	c.(1858-1860)GAC>GTC	p.D620V	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	620	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CCTAAGGTCGTCCAGTTCCGC	0.602													A	127797312	T	A	127797312	3	1	230	1	0	0	0	0	1	0	0	0	2345	1667	58	5	992	5	C6orf174	6	127797312	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	15773143	127797312	43317755	216	116390											
HBS1L	10767	broad.mit.edu	37	chr6	135318688	135318688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcgtgtggggtggattagCagatttagaagcagtctcaa	13	5	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:135318688C>A	uc003qez.2	-	6	853	c.646G>T	c.(646-648)GCT>TCT	p.A216S	HBS1L_uc003qey.2_Missense_Mutation_p.A52S|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.A52S|HBS1L_uc011eda.1_Missense_Mutation_p.A174S	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	216					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GGTGGATTAGCAGATTTAGAA	0.468													A	135318688	C	A	135318688	3	1	230	1	0	0	0	0	1	0	0	0	6987	710	25	5	1460	5	HBS1L	6	135318688	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	7521376	135318688	35796379	217	116391											
TXLNB	167838	broad.mit.edu	37	chr6	139564084	139564084	+	Frame_Shift_Del	DEL	G	G	-													aatcccgtgaagggatcagaGggggttgctctggctccttg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:139564084delG	uc011eds.1	-	10	1799	c.1634delC	c.(1633-1635)CCTfs	p.P545fs		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	545						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGGGATCAGAGGGGGTTGCTC	0.587													-	139564084	G	-	139564084	7	5	230	1	0	1	0	1	0	0	0	0	16785	1000	35	0	424	0	TXLNB	6	139564084	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	4245396	139564084	31550983	218	116392											
STX11	8676	broad.mit.edu	37	chr6	144507972	144507972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctgggaaagcagaacGcccgcttcctcacgtccatg	12	14	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:144507972G>A	uc003qks.3	+	2	400	c.208G>A	c.(208-210)GCC>ACC	p.A70T		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	70	Potential.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		AAAGCAGAACGCCCGCTTCCT	0.622									Familial_Hemophagocytic_Lymphohistiocytosis				A	144507972	G	A	144507972	3	1	230	1	0	0	0	0	1	0	0	0	15336	1087	38	1	210	1	STX11	6	144507972	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4943888	144507972	26607095	219	116393											
SHPRH	257218	broad.mit.edu	37	chr6	146256569	146256570	+	Frame_Shift_Ins	INS	-	-	A													ccaagaaagaccactaacccINSaaaaagatctgaaaagaaaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:146256569_146256570insA	uc003qlf.2	-	12	2976_2977	c.2577_2578insT	c.(2575-2580)TTTGGGfs	p.F859fs	SHPRH_uc003qld.2_Frame_Shift_Ins_p.F859fs|SHPRH_uc003qle.2_Frame_Shift_Ins_p.F859fs|SHPRH_uc003qlg.1_Frame_Shift_Ins_p.F415fs|SHPRH_uc003qlj.1_Frame_Shift_Ins_p.F748fs|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	859_860	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACCACTAACCCAAAAAGATCTG	0.371													A	146256570	-	A	146256569	7	5	230	1	0	1	1	0	0	0	0	0	14291	594	21	0	2593	0	SHPRH	6	146256569	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1748597	146256569	24858498	220	116394	549	2									
SHPRH	257218	broad.mit.edu	37	chr6	146256570	146256571	+	Frame_Shift_Ins	INS	-	-	A													caagaaagaccactaacccaINSaaaagatctgaaaagaaaaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:146256569_146256570C>CA	uc003qlf.3	-	11	2976_2977	c.2577_2578G>TG	c.(2575-2580)tttgggfs	p.F859fs	SHPRH_uc003qle.3_Frame_Shift_Ins_p.F859fs|SHPRH_uc003qlg.1_Frame_Shift_Ins_p.F415fs|SHPRH_uc003qlj.1_Frame_Shift_Ins_p.F748fs|SHPRH_uc003qlh.3_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	859	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.L858I(1)		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)		ACCACTAACCCAAAAAGATCTG	0.371													A	146256571	-	A	146256570	7	5	230	1	0	1	1	0	0	0	0	0	14291	127	5	0	2594	0	SHPRH	6	146256570	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	146256570	24858497	221	116395	549	2									
SYNE1	23345	broad.mit.edu	37	chr6	152679642	152679642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatactcttggtgcaggcGgacaagtttttcagacttgg	12	8	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:152679642G>A	uc010kiw.2	-	66	11076	c.10474C>T	c.(10474-10476)CGC>TGC	p.R3492C	SYNE1_uc003qot.3_Missense_Mutation_p.R3499C|SYNE1_uc003qou.3_Missense_Mutation_p.R3492C|SYNE1_uc010kja.1_Missense_Mutation_p.R197C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3492	Spectrin 8.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTGCAGGCGGACAAGTTTT	0.393										HNSCC(10;0.0054)			A	152679642	G	A	152679642	3	1	230	1	0	0	0	0	1	0	0	0	15442	1116	39	1	16316	1	SYNE1	6	152679642	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6423072	152679642	18435425	222	116396											
TULP4	56995	broad.mit.edu	37	chr6	158923160	158923160	+	Frame_Shift_Del	DEL	C	C	-													ggacgcagtggtctttagtgCcccccaggaggtccaggtga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:158923160delC	uc003qrf.2	+	13	3822	c.2465delC	c.(2464-2466)GCCfs	p.A822fs	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	822					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		GTCTTTAGTGCCCCCCAGGAG	0.672													-	158923160	C	-	158923160	7	5	230	1	0	1	0	1	0	0	0	0	16773	739	26	0	2515	0	TULP4	6	158923160	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	6243518	158923160	12191907	223	116397											
SYTL3	94120	broad.mit.edu	37	chr6	159183138	159183141	+	Frame_Shift_Del	DEL	TTTG	TTTG	-													gccatcacttcatggtcaacTttgtttggtagtgctaggag							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:159183137_159183140CTTTG>C	uc003qrp.3	+	16	1843_1846	c.1444_1447CTTTG>C	c.(1444-1449)ctttgtfs	p.L482fs	SYTL3_uc003qrr.3_Frame_Shift_Del_p.L482fs|SYTL3_uc003qro.3_Frame_Shift_Del_p.L414fs|SYTL3_uc003qrs.3_Frame_Shift_Del_p.L414fs|SYTL3_uc011efq.2_Frame_Shift_Del_p.L208fs	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	482	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCATGGTCAACTTTGTTTGGTAGT	0.441													-	159183141	TTTG	-	159183138	7	5	230	1	0	1	0	1	0	0	0	0	15481	1609	56	0	1283	0	SYTL3	6	159183138	Frame_Shift_Del	DEL	TTTG	TCGA-D7-A4YY-01A-11D-A25D-08	259978	159183138	11931929	224	116398											
LPA	4018	broad.mit.edu	37	chr6	161071490	161071490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataactctgtccatcaccaTggtagcaatcctggaccaca	7	13	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:161071490T>C	uc003qtl.2	-	3	209	c.89A>G	c.(88-90)CAT>CGT	p.H30R		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	2538	Kringle 23.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	TCCATCACCATGGTAGCAATC	0.438													C	161071490	T	C	161071490	3	2	230	1	0	0	0	0	1	0	0	0	8903	1464	51	3	6185	3	LPA	6	161071490	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1888352	161071490	10043577	225	116399											
THBS2	7058	broad.mit.edu	37	chr6	169639759	169639759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgcaggttgcaggcgggCaggtgatttggtggcaaatg	19	6	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr6:169639759C>T	uc003qwt.2	-	8	1312	c.1064G>A	c.(1063-1065)TGC>TAC	p.C355Y		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	355	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		TGCAGGCGGGCAGGTGATTTG	0.527													T	169639759	C	T	169639759	3	4	230	1	0	0	0	0	1	0	0	0	15851	710	25	2	2518	2	THBS2	6	169639759	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	8568269	169639759	1475308	226	116400											
C7orf50	84310	broad.mit.edu	37	chr7	1049623	1049623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagttcggcccccgagcGcctggcaggcgggtgctggg	19	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:1049623G>A	uc003sju.2	-	3	356	c.286C>T	c.(286-288)CGC>TGC	p.R96C	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.R96C|C7orf50_uc011jvu.1_Missense_Mutation_p.R96C	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	96							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GCCCCCGAGCGCCTGGCAGGC	0.677													A	1049623	G	A	1049623	3	1	230	1	0	0	0	0	1	0	0	0	2399	1087	38	1	310	1	C7orf50	7	1049623	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		1049623	158089040	227	116401											
TNRC18	84629	broad.mit.edu	37	chr7	5427549	5427549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccggagtgtgggagacGggcctgggctcgggaggcac	20	11	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:5427549G>A	uc003soi.3	-	5	2255	c.1906C>T	c.(1906-1908)CGT>TGT	p.R636C	TNRC18_uc010ksx.1_Missense_Mutation_p.R562C	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	636							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGTGGGAGACGGGCCTGGGCT	0.721													A	5427549	G	A	5427549	3	1	230	1	0	0	0	0	1	0	0	0	16336	1116	39	1	7104	1	TNRC18	7	5427549	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4377926	5427549	153711114	228	116402											
COL28A1	340267	broad.mit.edu	37	chr7	7530221	7530221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttaccttaataccttgCtgtccaattccaggagctcc	5	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:7530221C>T	uc003src.1	-	12	1200	c.1083G>A	c.(1081-1083)CAG>CAA	p.Q361Q	COL28A1_uc011jxe.1_Missense_Mutation_p.S47N|COL28A1_uc003srd.2_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	361					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TAATACCTTGCTGTCCAATTC	0.463													T	7530221	C	T	7530221	2	4	230	1	0	0	0	0	0	0	0	1	3686	796	28	2		2	COL28A1	7	7530221	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2102672	7530221	151608442	229	116403											
DNAH11	8701	broad.mit.edu	37	chr7	21920488	21920488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgccagtgtcctctacAactacttagaggcaaactct	7	11	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:21920488A>G	uc003svc.2	+	76	12416	c.12385A>G	c.(12385-12387)AAC>GAC	p.N4129D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4129	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGTCCTCTACAACTACTTAGA	0.483									Kartagener_syndrome				G	21920488	A	G	21920488	3	3	230	1	0	0	0	0	1	0	0	0	4599	130	5	3	12684	3	DNAH11	7	21920488	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	14390267	21920488	137218175	230	116404											
C7orf46	340277	broad.mit.edu	37	chr7	23728932	23728932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgattcctcagcagtGccccattgatctgccctgcc	10	15	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:23728932G>T	uc003swo.3	+	3	373	c.284G>T	c.(283-285)TGC>TTC	p.C95F	C7orf46_uc003swq.3_Missense_Mutation_p.C95F|C7orf46_uc003swr.3_Missense_Mutation_p.C37F|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	95											0						CCTCAGCAGTGCCCCATTGAT	0.443													T	23728932	G	T	23728932	3	4	230	1	0	0	0	0	1	0	0	0	2396	1319	46	5	294	5	C7orf46	7	23728932	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1808444	23728932	135409731	231	116405											
JAZF1	221895	broad.mit.edu	37	chr7	27934891	27934891	+	Frame_Shift_Del	DEL	G	G	-													ggggtgatgggtggggtcacGgggggagtaaggcttccact							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:27934891delG	uc003szn.2	-	3	574	c.333delC	c.(331-333)CCCfs	p.P111fs	JAZF1_uc003szm.2_Frame_Shift_Del_p.P47fs	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	111					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131						GTGGGGTCACGGGGGGAGTAA	0.612			T	SUZ12	endometrial stromal tumours								-	27934891	G	-	27934891	7	5	230	1	0	1	0	1	0	0	0	0	7946	1103	39	0	410	0	JAZF1	7	27934891	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	4205959	27934891	131203772	232	116406											
FKBP9	11328	broad.mit.edu	37	chr7	33014948	33014948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgaggtaccactacaaCgggacgttcctggacggaac	12	10	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:33014948C>T	uc003tdh.2	+	3	703	c.522C>T	c.(520-522)AAC>AAT	p.N174N	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.N227N|FKBP9_uc003tdg.2_Silent_p.N174N|FKBP9_uc010kwm.2_Silent_p.N81N	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	174	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			ACCACTACAACGGGACGTTCC	0.478													T	33014948	C	T	33014948	2	4	230	1	0	0	0	0	0	0	0	1	5915	535	19	1		1	FKBP9	7	33014948	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	5080057	33014948	126123715	233	116407											
GPR141	353345	broad.mit.edu	37	chr7	37780680	37780680	+	Frame_Shift_Del	DEL	T	T	-													gggctcagctgaaaaacctaTtttttataggggtcatcctt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:37780680delT	uc003tfm.1	+	1	685	c.685delT	c.(685-687)TTTfs	p.F229fs	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	229	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GAAAAACCTATTTTTTATAGG	0.433													-	37780680	T	-	37780680	7	5	230	1	0	1	0	1	0	0	0	0	6649	1493	52	0	687	0	GPR141	7	37780680	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	4765732	37780680	121357983	234	116408											
WBSCR17	64409	broad.mit.edu	37	chr7	71130460	71130460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcccacattgagcggaAgaagaagccatataatagca	12	8	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:71130460A>C	uc003tvy.2	+	7	1145	c.1145A>C	c.(1144-1146)AAG>ACG	p.K382T	WBSCR17_uc003tvz.2_Missense_Mutation_p.K81T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	382	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATTGAGCGGAAGAAGAAGCCA	0.488													C	71130460	A	C	71130460	3	2	230	1	0	0	0	0	1	0	0	0	17261	72	3	5	1171	5	WBSCR17	7	71130460	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	33349780	71130460	88008203	235	116409											
HIP1	3092	broad.mit.edu	37	chr7	75191425	75191425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaaattgaagggatcaCtgctgaatgaactgccaaag	11	6	1	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:75191425C>T	uc003uds.1	-	12	1111	c.1070G>A	c.(1069-1071)AGT>AAT	p.S357N	HIP1_uc011kfz.1_Missense_Mutation_p.S234N	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	357					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			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GAAGGGATCACTGCTGAATGA	0.413			T	PDGFRB	CMML								T	75191425	C	T	75191425	3	4	230	1	0	0	0	0	1	0	0	0	7114	565	20	4	2123	4	HIP1	7	75191425	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	4060965	75191425	83947238	236	116410											
PTPN12	5782	broad.mit.edu	37	chr7	77200395	77200395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatttgttgtattttaagCggttaagaagattgtctacc	8	4	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:77200395C>T	uc003ugh.2	+	2	191	c.100C>T	c.(100-102)CGG>TGG	p.R34W	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_RNA	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	34	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						GTATTTTAAGCGGTTAAGAAG	0.303													T	77200395	C	T	77200395	3	4	230	1	0	0	0	0	1	0	0	0	12781	782	27	1	106	1	PTPN12	7	77200395	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2008970	77200395	81938268	237	116411											
ABCB4	5244	broad.mit.edu	37	chr7	87104745	87104745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccgcgctcgtggggcGccaggctgttccgttctttg	14	15	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:87104745G>A	uc003uiv.1	-	2	113	c.37C>T	c.(37-39)CGC>TGC	p.R13C	ABCB4_uc003uiw.1_Missense_Mutation_p.R13C|ABCB4_uc003uix.1_Missense_Mutation_p.R13C|ABCB4_uc003uiy.2_Missense_Mutation_p.R13C	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	13	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTCGTGGGGCGCCAGGCTGTT	0.607													A	87104745	G	A	87104745	3	1	230	1	0	0	0	0	1	0	0	0	43	1087	38	1	3931	1	ABCB4	7	87104745	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	9904350	87104745	72033918	238	116412											
TRRAP	8295	broad.mit.edu	37	chr7	98609737	98609737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgggacgagatcattgCttggcacaaaaaaacacaag	9	10	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:98609737C>T	uc003upp.2	+	72	11548	c.11339C>T	c.(11338-11340)GCT>GTT	p.A3780V	TRRAP_uc011kis.1_Missense_Mutation_p.A3751V|TRRAP_uc003upr.2_Missense_Mutation_p.A3486V|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3780	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			GAGATCATTGCTTGGCACAAA	0.552													T	98609737	C	T	98609737	3	4	230	1	0	0	0	0	1	0	0	0	16598	797	28	2	11530	2	TRRAP	7	98609737	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	11504992	98609737	60528926	239	116413											
SMURF1	57154	broad.mit.edu	37	chr7	98638150	98638150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccagccccatgatccgCcccacaaagtggaaataaga	8	14	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:98638150C>T	uc003upu.1	-	14	1799	c.1479G>A	c.(1477-1479)GGG>GGA	p.G493G	SMURF1_uc003upv.1_Silent_p.G467G|SMURF1_uc003upt.2_Silent_p.G467G	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	493	HECT.				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			skin(2)|ovary(1)|lung(1)	4	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)			CCATGATCCGCCCCACAAAGT	0.567											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	98638150	C	T	98638150	2	4	230	1	0	0	0	0	0	0	0	1	14819	726	26	2		2	SMURF1	7	98638150	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	28413	98638150	60500513	240	116414											
TAF6	6878	broad.mit.edu	37	chr7	99711374	99711374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggaatgaactcctgggCgtggaagccatagagtggct	15	7	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:99711374C>T	uc003uti.2	-	4	343	c.262G>A	c.(262-264)GCC>ACC	p.A88T	TAF6_uc003utg.2_Missense_Mutation_p.A29T|TAF6_uc003uth.2_Missense_Mutation_p.A145T|TAF6_uc003utk.2_Missense_Mutation_p.A88T|TAF6_uc011kji.1_Missense_Mutation_p.A125T|TAF6_uc003utj.2_Missense_Mutation_p.A78T|TAF6_uc003utl.2_Missense_Mutation_p.A88T|TAF6_uc003utm.2_Missense_Mutation_p.A88T|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	88					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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACTCCTGGGCGTGGAAGCCA	0.607													T	99711374	C	T	99711374	3	4	230	1	0	0	0	0	1	0	0	0	15527	768	27	1	1819	1	TAF6	7	99711374	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1073224	99711374	59427289	241	116415											
GPC2	221914	broad.mit.edu	37	chr7	99767927	99767927	+	Frame_Shift_Del	DEL	C	C	-													ggtgtgaaaaccaatagatgCccccccactcctgctccggc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:99767927delC	uc003utv.2	-	10	1834	c.1666delG	c.(1666-1668)GCAfs	p.A556fs	GAL3ST4_uc003utt.2_5'Flank|GAL3ST4_uc003utu.2_5'Flank|GAL3ST4_uc010lgq.2_5'Flank|GPC2_uc010lgr.2_RNA	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	556						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAATAGATGCCCCCCCACTC	0.617													-	99767927	C	-	99767927	7	5	230	1	0	1	0	1	0	0	0	0	6598	739	26	0	77	0	GPC2	7	99767927	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	56553	99767927	59370736	242	116416											
GIGYF1	64599	broad.mit.edu	37	chr7	100283658	100283658	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcctcctccaacccttgGaagtccagctcctgctcctc	5	20	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:100283658G>A	uc003uwg.1	-	9	2002	c.993C>T	c.(991-993)TTC>TTT	p.F331F		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	331										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCAACCCTTGGAAGTCCAGCT	0.687													A	100283658	G	A	100283658	2	1	230	1	0	0	0	0	0	0	0	1	6377	1165	41	4		4	GIGYF1	7	100283658	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	515731	100283658	58855005	243	116417											
EMID2	136227	broad.mit.edu	37	chr7	101183279	101183279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacttcctccccgacgccAtccctcttgctcaccctgtg	7	19	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:101183279A>G	uc010lhy.1	+	5	739	c.547A>G	c.(547-549)ATC>GTC	p.I183V	EMID2_uc003uyo.1_Missense_Mutation_p.I185V	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	185						collagen				ovary(1)	1	Lung NSC(181;0.215)					CCCCGACGCCATCCCTCTTGC	0.672													G	101183279	A	G	101183279	3	3	230	1	0	0	0	0	1	0	0	0	5092	217	8	3	565	3	EMID2	7	101183279	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	899621	101183279	57955384	244	116418											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519924	113519924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctcccatatttgaagtaGtttcctctgaaggttgatgt	8	7	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:113519924G>A	uc010ljy.1	-	4	1254	c.1223C>T	c.(1222-1224)ACT>ATT	p.T408I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	408					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATTTGAAGTAGTTTCCTCTGA	0.393													A	113519924	G	A	113519924	3	1	230	1	0	0	0	0	1	0	0	0	12371	1029	36	4	2149	4	PPP1R3A	7	113519924	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	12336645	113519924	45618739	245	116419											
C7orf58	79974	broad.mit.edu	37	chr7	120740134	120740134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatccaccaaagaaaaaaCgcttcactgtcaaggtaagc	8	10	2	1	rs145131821		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:120740134C>T	uc003vjq.3	+	7	1351	c.904C>T	c.(904-906)CGC>TGC	p.R302C	C7orf58_uc003vjr.1_Missense_Mutation_p.R302C|C7orf58_uc003vjs.3_Missense_Mutation_p.R302C|C7orf58_uc003vjt.3_Missense_Mutation_p.R82C|C7orf58_uc010lkk.1_Missense_Mutation_p.R82C	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	302						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AAAGAAAAAACGCTTCACTGT	0.428													T	120740134	C	T	120740134	3	4	230	1	0	0	0	0	1	0	0	0	2405	536	19	1	926	1	C7orf58	7	120740134	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	7220210	120740134	38398529	246	116420											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652741	121652741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attggttgaaacccccaaagTtgataaaattagttctacaa	6	7	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:121652741T>G	uc003vjy.2	+	12	4036	c.3641T>G	c.(3640-3642)GTT>GGT	p.V1214G	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1214	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ACCCCCAAAGTTGATAAAATT	0.398													G	121652741	T	G	121652741	3	3	230	1	0	0	0	0	1	0	0	0	12814	1725	60	5	3687	5	PTPRZ1	7	121652741	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	912607	121652741	37485922	247	116421											
RNF133	168433	broad.mit.edu	37	chr7	122338523	122338523	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaccaatcataaccacaacGacatcttcaaatgcctgatg	4	12	3	1	rs151248984		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:122338523G>A	uc003vkj.1	-	1	686	c.450C>T	c.(448-450)GTC>GTT	p.V150V	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	150	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						TAACCACAACGACATCTTCAA	0.448													A	122338523	G	A	122338523	2	1	230	1	0	0	0	0	0	0	0	1	13439	1045	37	1		1	RNF133	7	122338523	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	685782	122338523	36800140	248	116422											
CCDC136	64753	broad.mit.edu	37	chr7	128447448	128447448	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagcttcaggagatgaAgcagctgtaccaggccagca	12	12	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:128447448A>T	uc003vnv.1	+	10	1821	c.1454A>T	c.(1453-1455)AAG>ATG	p.K485M	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Missense_Mutation_p.K432M|CCDC136_uc003vnx.1_Missense_Mutation_p.K301M|CCDC136_uc010llq.1_Translation_Start_Site|CCDC136_uc003vny.1_Missense_Mutation_p.K95M	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	485						integral to membrane	protein binding			ovary(2)	2						CAGGAGATGAAGCAGCTGTAC	0.622													T	128447448	A	T	128447448	3	4	230	1	0	0	0	0	1	0	0	0	2770	72	3	5	1492	5	CCDC136	7	128447448	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	6108925	128447448	30691215	249	116423											
PLXNA4	91584	broad.mit.edu	37	chr7	131912276	131912276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactggatctgattgcccaCgaccagcccatccatctctg	8	16	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:131912276C>T	uc003vra.3	-	7	2045	c.1816G>A	c.(1816-1818)GTG>ATG	p.V606M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	606	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGATTGCCCACGACCAGCCCA	0.587													T	131912276	C	T	131912276	3	4	230	1	0	0	0	0	1	0	0	0	12122	536	19	1	3972	1	PLXNA4	7	131912276	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3464828	131912276	27226387	250	116424											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138417723	138417723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgctgagatacatggaCgtcaaagcagcaccatttga	12	9	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:138417723C>T	uc003vuf.2	-	16	2045	c.1807G>A	c.(1807-1809)GTC>ATC	p.V603I	ATP6V0A4_uc003vug.2_Missense_Mutation_p.V603I|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.V603I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	603	Helical; (Potential).				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			pancreas(1)	1						GATACATGGACGTCAAAGCAG	0.423													T	138417723	C	T	138417723	3	4	230	1	0	0	0	0	1	0	0	0	1170	536	19	1	739	1	ATP6V0A4	7	138417723	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	6505447	138417723	20720940	251	116425											
MLL3	58508	broad.mit.edu	37	chr7	151884817	151884817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggcatcaggataagaGgattgtgcaattgcagagaa	12	6	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:151884817G>A	uc003wla.2	-	32	4995	c.4776C>T	c.(4774-4776)TCC>TCT	p.S1592S	MLL3_uc003wkz.2_Silent_p.S653S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1592					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGGATAAGAGGATTGTGCAA	0.388			N		medulloblastoma								A	151884817	G	A	151884817	2	1	230	1	0	0	0	0	0	0	0	1	9622	987	35	4		4	MLL3	7	151884817	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	13467094	151884817	7253846	252	116426											
HTR5A	3361	broad.mit.edu	37	chr7	154863077	154863077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctccgcacccgcaagtgCgtctccaacgtcatgatcgc	9	17	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr7:154863077C>T	uc003wlu.1	+	1	532	c.468C>T	c.(466-468)TGC>TGT	p.C156C	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	156	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	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)		CCCGCAAGTGCGTCTCCAACG	0.622													T	154863077	C	T	154863077	2	4	230	1	0	0	0	0	0	0	0	1	7450	776	27	1		1	HTR5A	7	154863077	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2978260	154863077	4275586	253	116427											
ZNF596	169270	broad.mit.edu	37	chr8	195481	195481	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaaattctaatcttaggCgacatgagatgattcacact	7	8	3	2	rs145428583		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:195481C>T	uc003wot.2	+	6	922	c.634C>T	c.(634-636)CGA>TGA	p.R212*	ZNF596_uc003wou.2_Nonsense_Mutation_p.R111*|ZNF596_uc003wov.2_Nonsense_Mutation_p.R212*|ZNF596_uc003wow.2_Nonsense_Mutation_p.R212*	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	212	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TAATCTTAGGCGACATGAGAT	0.423													T	195481	C	T	195481	4	4	230	1	0	0	0	0	0	1	0	0	18023	760	27	1	652	1	ZNF596	8	195481	Nonsense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08		195481	146168541	254	116428											
MSR1	4481	broad.mit.edu	37	chr8	16007762	16007762	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccttccggcatatcctggGagtcctcgacttccaggaaa	11	13	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:16007762G>A	uc003wwz.2	-	7	1155	c.957C>T	c.(955-957)CTC>CTT	p.L319L	MSR1_uc010lsu.2_Silent_p.L337L|MSR1_uc003wxa.2_Silent_p.L319L|MSR1_uc003wxb.2_Silent_p.L319L|MSR1_uc011kxz.1_Silent_p.L93L	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	319	Collagen-like.|Extracellular (Potential).				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			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATATCCTGGGAGTCCTCGAC	0.343													A	16007762	G	A	16007762	2	1	230	1	0	0	0	0	0	0	0	1	9886	1161	41	4		4	MSR1	8	16007762	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	15812281	16007762	130356260	255	116429											
PIWIL2	55124	broad.mit.edu	37	chr8	22173817	22173817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtagaggcatgcgctcCgtggttggcttcgtggcaag	15	11	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:22173817C>T	uc003xbn.2	+	19	2416	c.2268C>T	c.(2266-2268)TCC>TCT	p.S756S	PIWIL2_uc011kzf.1_Silent_p.S756S|PIWIL2_uc010ltv.2_Silent_p.S756S	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	756	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			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCATGCGCTCCGTGGTTGGCT	0.418													T	22173817	C	T	22173817	2	4	230	1	0	0	0	0	0	0	0	1	11958	639	23	1		1	PIWIL2	8	22173817	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	6166055	22173817	124190205	256	116430											
SLC25A37	51312	broad.mit.edu	37	chr8	23425872	23425872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccctgctccacgatgcGgtaatgaatccagcagaagg	11	13	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:23425872G>A	uc003xdo.2	+	3	630	c.477G>A	c.(475-477)GCG>GCA	p.A159A	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_Intron|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	159	Solcar 2.|Helical; Name=3; (Potential).				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		TCCACGATGCGGTAATGAATC	0.522													A	23425872	G	A	23425872	2	1	230	1	0	0	0	0	0	0	0	1	14501	1103	39	1		1	SLC25A37	8	23425872	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1252055	23425872	122938150	257	116431											
PTK2B	2185	broad.mit.edu	37	chr8	27308396	27308398	+	In_Frame_Del	DEL	AGG	AGG	-													ggactaccagtggctcaggcAggaggagaagtccctggtga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:27308396_27308398delAGG	uc003xfn.1	+	30	3279_3281	c.2471_2473delAGG	c.(2470-2475)CAGGAG>CAG	p.E826del	PTK2B_uc003xfo.1_In_Frame_Del_p.E826del|PTK2B_uc003xfp.1_In_Frame_Del_p.E826del|PTK2B_uc003xfq.1_In_Frame_Del_p.E784del|PTK2B_uc003xfs.1_In_Frame_Del_p.E23del	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	826	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGGCTCAGGCAGGAGGAGAAGTC	0.606													-	27308398	AGG	-	27308396	7	5	230	1	0	1	0	1	0	0	0	0	12763	188	7	0	2565	0	PTK2B	8	27308396	In_Frame_Del	DEL	AGG	TCGA-D7-A4YY-01A-11D-A25D-08	3882524	27308396	119055626	258	116432											
ZNF395	55893	broad.mit.edu	37	chr8	28210871	28210871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctggtagtgctgctgCcgctgtccgagatgtcacca	13	13	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:28210871C>T	uc003xgq.2	-	5	726	c.638G>A	c.(637-639)GGC>GAC	p.G213D	ZNF395_uc003xgt.2_Missense_Mutation_p.G213D|ZNF395_uc003xgr.2_Missense_Mutation_p.G213D|ZNF395_uc003xgs.2_Missense_Mutation_p.G213D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	213					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGTGCTGCTGCCGCTGTCCGA	0.637													T	28210871	C	T	28210871	3	4	230	1	0	0	0	0	1	0	0	0	17878	739	26	2	927	2	ZNF395	8	28210871	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	902475	28210871	118153151	259	116433											
FUT10	84750	broad.mit.edu	37	chr8	33247216	33247216	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgatcactggtttatgAaagagcttataattgttttt	9	3	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:33247216A>G	uc003xje.2	-	4	833	c.477T>C	c.(475-477)TTT>TTC	p.F159F	FUT10_uc003xjc.2_Silent_p.F166F|FUT10_uc003xjd.2_Silent_p.F131F|FUT10_uc011lbi.1_Silent_p.F209F|FUT10_uc003xjf.2_Silent_p.F97F|FUT10_uc003xjg.2_Silent_p.F131F|FUT10_uc003xjh.2_Silent_p.F159F	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	159	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CTGGTTTATGAAAGAGCTTAT	0.443													G	33247216	A	G	33247216	2	3	230	1	0	0	0	0	0	0	0	1	6102	243	9	3		3	FUT10	8	33247216	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	5036345	33247216	113116806	260	116434											
ANK1	286	broad.mit.edu	37	chr8	41753957	41753957	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggagggcctgcgcctcGatgtctttgattttcttcag	11	11	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:41753957G>A	uc003xom.2	-	1	324	c.42C>T	c.(40-42)ATC>ATT	p.I14I		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	Error:Variant_position_missing_in_P16157_after_alignment					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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			CCTGCGCCTCGATGTCTTTGA	0.632													A	41753957	G	A	41753957	2	1	230	1	0	0	0	0	0	0	0	1	620	1048	37	1		1	ANK1	8	41753957	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	8506741	41753957	104610065	261	116435											
MYST3	7994	broad.mit.edu	37	chr8	41834610	41834610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagtccaccacttccccccGagctttccgcccatcagggg	9	18	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:41834610G>A	uc010lxb.2	-	8	1823	c.1279C>T	c.(1279-1281)CGG>TGG	p.R427W	MYST3_uc010lxc.2_Missense_Mutation_p.R427W|MYST3_uc003xon.3_Missense_Mutation_p.R427W|MYST3_uc010lxd.2_Missense_Mutation_p.R427W	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	427	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			ACTTCCCCCCGAGCTTTCCGC	0.468													A	41834610	G	A	41834610	3	1	230	1	0	0	0	0	1	0	0	0	10104	1057	37	1	4779	1	MYST3	8	41834610	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	80653	41834610	104529412	262	116436											
ZFHX4	79776	broad.mit.edu	37	chr8	77617679	77617679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggccaaaagaaagcaaCgttttacacccaaacgggga	10	9	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:77617679C>A	uc003yav.2	+	2	1743	c.1356C>A	c.(1354-1356)AAC>AAA	p.N452K	ZFHX4_uc003yat.1_Missense_Mutation_p.N452K|ZFHX4_uc003yau.1_Missense_Mutation_p.N452K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N452K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	452						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGAAAGCAACGTTTTACACC	0.483										HNSCC(33;0.089)			A	77617679	C	A	77617679	3	1	230	1	0	0	0	0	1	0	0	0	17632	535	19	5	1358	5	ZFHX4	8	77617679	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	35783069	77617679	68746343	263	116437											
ZFHX4	79776	broad.mit.edu	37	chr8	77775430	77775430	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaccaaacctttgctgcaGactccaccacctccaccacc	3	22	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:77775430G>T	uc003yav.2	+	11	9732	c.9345G>T	c.(9343-9345)CAG>CAT	p.Q3115H		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3111	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTTGCTGCAGActccaccac	0.398										HNSCC(33;0.089)			T	77775430	G	T	77775430	3	4	230	1	0	0	0	0	1	0	0	0	17632	933	33	5	9518	5	ZFHX4	8	77775430	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	157751	77775430	68588592	264	116438											
ADCY8	114	broad.mit.edu	37	chr8	131916177	131916177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctgcttaattaagtaAgtttcgatattatgcttcct	7	7	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:131916177A>G	uc003ytd.3	-	7	2008	c.1752T>C	c.(1750-1752)ACT>ACC	p.T584T	ADCY8_uc010mds.2_Silent_p.T584T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	584	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAATTAAGTAAGTTTCGATAT	0.483										HNSCC(32;0.087)			G	131916177	A	G	131916177	2	3	230	1	0	0	0	0	0	0	0	1	300	59	3	3		3	ADCY8	8	131916177	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	54140747	131916177	14447845	265	116439											
COL22A1	169044	broad.mit.edu	37	chr8	139618653	139618653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acggggacccaggaagccagGaagtcctgggctgccatttt	14	11	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:139618653G>T	uc003yvd.2	-	58	4522	c.4075C>A	c.(4075-4077)CCT>ACT	p.P1359T	COL22A1_uc011ljo.1_Missense_Mutation_p.P639T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1359	Pro-rich.|Gly-rich.|Collagen-like 13.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			AGGAAGCCAGGAAGTCCTGGG	0.537										HNSCC(7;0.00092)			T	139618653	G	T	139618653	3	4	230	1	0	0	0	0	1	0	0	0	3681	1174	41	5	837	5	COL22A1	8	139618653	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	7702476	139618653	6745369	266	116440											
KCNK9	51305	broad.mit.edu	37	chr8	140715004	140715004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagccggcgaatttccActggacgccggcgcggtgcg	17	12	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:140715004A>G	uc003yvf.1	-	1	296	c.232T>C	c.(232-234)TGG>CGG	p.W78R	KCNK9_uc003yvg.1_Missense_Mutation_p.W78R	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	78	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	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)			GCGAATTTCCACTGGACGCCG	0.652													G	140715004	A	G	140715004	3	3	230	1	0	0	0	0	1	0	0	0	8072	159	6	3	900	3	KCNK9	8	140715004	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	1096351	140715004	5649018	267	116441											
GPR20	2843	broad.mit.edu	37	chr8	142367316	142367316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgcatggcccgcacGcggcgctggcgaccctggtg	17	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:142367316G>A	uc003ywf.2	-	2	797	c.708C>T	c.(706-708)CGC>CGT	p.R236R		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	236	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	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)			TGGCCCGCACGCGGCGCTGGC	0.667													A	142367316	G	A	142367316	2	1	230	1	0	0	0	0	0	0	0	1	6680	1074	38	1		1	GPR20	8	142367316	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1652312	142367316	3996706	268	116442											
BAI1	575	broad.mit.edu	37	chr8	143558811	143558811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacctgtggccgtggctttCgggatcgcacgcgcacctgc	14	15	0	0	rs76763828		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:143558811C>T	uc003ywm.2	+	5	1471	c.1288C>T	c.(1288-1290)CGG>TGG	p.R430W		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	430	Extracellular (Potential).|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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					CCGTGGCTTTCGGGATCGCAC	0.657													T	143558811	C	T	143558811	3	4	230	1	0	0	0	0	1	0	0	0	1298	875	31	1	1306	1	BAI1	8	143558811	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1191495	143558811	2805211	269	116443											
FAM83H	286077	broad.mit.edu	37	chr8	144810229	144810229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaacaggccttgcgggcGcgccggcgtgagctgcgggt	18	13	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:144810229G>A	uc003yzk.2	-	5	1471	c.1402C>T	c.(1402-1404)CGC>TGC	p.R468C	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	468					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			CCTTGCGGGCGCGCCGGCGTG	0.711													A	144810229	G	A	144810229	3	1	230	1	0	0	0	0	1	0	0	0	5640	1087	38	1	2141	1	FAM83H	8	144810229	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1251418	144810229	1553793	270	116444											
SCRIB	23513	broad.mit.edu	37	chr8	144885864	144885864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcgcgggggttgccagCgtggcccctggcacccccgc	18	16	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:144885864C>T	uc003yzp.1	-	23	3374	c.3367G>A	c.(3367-3369)GCT>ACT	p.A1123T	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.A1123T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1123	PDZ 4.|Interaction with ARHGEF7.				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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGTTGCCAGCGTGGCCCCTG	0.721													T	144885864	C	T	144885864	3	4	230	1	0	0	0	0	1	0	0	0	13937	768	27	1	1660	1	SCRIB	8	144885864	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	75635	144885864	1478158	271	116445											
PLEC	5339	broad.mit.edu	37	chr8	145001034	145001034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcagctcgctgtagtgcGtacgcaggtccacgtactgt	13	11	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:145001034G>A	uc003zaf.1	-	30	4543	c.4373C>T	c.(4372-4374)ACG>ATG	p.T1458M	PLEC_uc003zab.1_Missense_Mutation_p.T1321M|PLEC_uc003zac.1_Missense_Mutation_p.T1325M|PLEC_uc003zad.2_Missense_Mutation_p.T1321M|PLEC_uc003zae.1_Missense_Mutation_p.T1289M|PLEC_uc003zag.1_Missense_Mutation_p.T1299M|PLEC_uc003zah.2_Missense_Mutation_p.T1307M|PLEC_uc003zaj.2_Missense_Mutation_p.T1348M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1458	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTGTAGTGCGTACGCAGGTC	0.627													A	145001034	G	A	145001034	3	1	230	1	0	0	0	0	1	0	0	0	12052	1145	40	1	9693	1	PLEC	8	145001034	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	115170	145001034	1362988	272	116446											
SPATC1	375686	broad.mit.edu	37	chr8	145101823	145101823	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcctcagccagctggCgcacgatgacggcaagccca	11	17	1	1	rs137945127		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:145101823C>G	uc011lkw.1	+	5	1844	c.1742C>G	c.(1741-1743)GCG>GGG	p.A581G	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	581										ovary(1)|central_nervous_system(1)	2	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)			AGCCAGCTGGCGCACGATGAC	0.662													G	145101823	C	G	145101823	3	3	230	1	0	0	0	0	1	0	0	0	15016	768	27	5	1760	5	SPATC1	8	145101823	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	100789	145101823	1262199	273	116447											
PPP1R16A	84988	broad.mit.edu	37	chr8	145722779	145722779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggctcctgaagcaggtcCtcttccctcccagtgttgtc	10	14	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr8:145722779C>A	uc003zdd.2	+	2	1115	c.202C>A	c.(202-204)CTC>ATC	p.L68I	uc003zde.1_Missense_Mutation_p.R112M|PPP1R16A_uc003zdf.2_Missense_Mutation_p.L68I	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	68				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding				0	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)			GAAGCAGGTCCTCTTCCCTCC	0.647													A	145722779	C	A	145722779	3	1	230	1	0	0	0	0	1	0	0	0	12365	681	24	5	204	5	PPP1R16A	8	145722779	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	620956	145722779	641243	274	116448											
SMARCA2	6595	broad.mit.edu	37	chr9	2039502	2039502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatctccattaggagcccCagagcacgtctccagcccta	7	18	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:2039502C>A	uc003zhc.2	+	4	491	c.392C>A	c.(391-393)CCA>CAA	p.P131Q	SMARCA2_uc003zhd.2_Missense_Mutation_p.P131Q|SMARCA2_uc010mha.2_Missense_Mutation_p.P122Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	131					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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTAGGAGCCCCAGAGCACGTC	0.552													A	2039502	C	A	2039502	3	1	230	1	0	0	0	0	1	0	0	0	14769	594	21	5	402	5	SMARCA2	9	2039502	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08		2039502	139173929	275	116449											
DENND4C	55667	broad.mit.edu	37	chr9	19334985	19334985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttgttaggtgtgctatcGagtagtgatgcagctttgtg	13	4	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:19334985G>A	uc003znq.2	+	14	1796	c.1763G>A	c.(1762-1764)CGA>CAA	p.R588Q	DENND4C_uc011lnc.1_5'UTR|DENND4C_uc011lnd.1_5'Flank	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	588	PPR.					integral to membrane				ovary(1)|skin(1)	2						GTGTGCTATCGAGTAGTGATG	0.338													A	19334985	G	A	19334985	3	1	230	1	0	0	0	0	1	0	0	0	4435	1058	37	1	1817	1	DENND4C	9	19334985	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	17295483	19334985	121878446	276	116450											
KIAA1797	54914	broad.mit.edu	37	chr9	20881873	20881873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttatcctcttttagcttTggaggaattttttacatcac	5	8	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:20881873T>C	uc003zog.1	+	22	2684	c.2321T>C	c.(2320-2322)TTG>TCG	p.L774S	KIAA1797_uc003zoh.1_Missense_Mutation_p.L210S	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	774						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CTTTTAGCTTTGGAGGAATTT	0.378													C	20881873	T	C	20881873	3	2	230	1	0	0	0	0	1	0	0	0	8258	1821	63	3	2395	3	KIAA1797	9	20881873	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1546888	20881873	120331558	277	116451											
GBA2	57704	broad.mit.edu	37	chr9	35748547	35748547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtccgtctcttttgggggtCggctgtcttcgggactctta	13	10	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:35748547C>A	uc003zxw.2	-	1	679	c.155G>T	c.(154-156)CGA>CTA	p.R52L	GBA2_uc011lpb.1_Missense_Mutation_p.R52L|GBA2_uc011lpc.1_Missense_Mutation_p.R52L|GBA2_uc011lpd.1_Missense_Mutation_p.R52L|RGP1_uc011lpe.1_5'Flank|RGP1_uc011lpf.1_5'Flank	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	52	Extracellular (Potential).				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			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTTGGGGGTCGGCTGTCTTC	0.542													A	35748547	C	A	35748547	3	1	230	1	0	0	0	0	1	0	0	0	6267	884	31	5	2696	5	GBA2	9	35748547	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	14866674	35748547	105464884	278	116452											
C9orf79	286234	broad.mit.edu	37	chr9	90497878	90497878	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcagaggattccaccCccagctcccagaccatctgt	10	15	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:90497878C>G	uc004app.3	+	1	107	c.72C>G	c.(70-72)CCC>CCG	p.P24P	C9orf79_uc004apo.1_Silent_p.P24P	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	24						integral to membrane				ovary(3)	3						GGATTCCACCCCCAGCTCCCA	0.562													G	90497878	C	G	90497878	2	3	230	1	0	0	0	0	0	0	0	1	2497	610	22	5		5	C9orf79	9	90497878	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	54749331	90497878	50715553	279	116453											
BARX1	56033	broad.mit.edu	37	chr9	96715468	96715468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctcggccttcagcacGgctgcgaagaaagagaatga	13	11	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:96715468G>A	uc010mrh.2	-	2	405	c.225C>T	c.(223-225)GCC>GCT	p.A75A	BARX1_uc004aud.2_5'UTR	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	75						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTTCAGCACGGCTGCGAAGA	0.711													A	96715468	G	A	96715468	2	1	230	1	0	0	0	0	0	0	0	1	1315	1130	39	1		1	BARX1	9	96715468	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6217590	96715468	44497963	280	116454											
PTCH1	5727	broad.mit.edu	37	chr9	98231285	98231285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgtgggggtcgtactcCgtgcggagctggacagtgga	19	8	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:98231285C>T	uc004avk.3	-	14	2186	c.1998G>A	c.(1996-1998)ACG>ACA	p.T666T	PTCH1_uc010mro.2_Silent_p.T515T|PTCH1_uc010mrp.2_Silent_p.T515T|PTCH1_uc010mrq.2_Silent_p.T515T|PTCH1_uc004avl.3_Silent_p.T515T|PTCH1_uc010mrr.2_Silent_p.T600T|PTCH1_uc004avm.3_Silent_p.T665T|PTCH1_uc010mrs.1_Silent_p.T334T	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	666	Cytoplasmic (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGTCGTACTCCGTGCGGAGCT	0.622									Basal_Cell_Nevus_syndrome				T	98231285	C	T	98231285	2	4	230	1	0	0	0	0	0	0	0	1	12730	639	23	1		1	PTCH1	9	98231285	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1515817	98231285	42982146	281	116455											
TBC1D2	55357	broad.mit.edu	37	chr9	100983416	100983416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccgcaccagctccagcCggtccttgtcctcagccgcc	10	19	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:100983416C>T	uc011lvb.1	-	6	1253	c.1073G>A	c.(1072-1074)CGG>CAG	p.R358Q	TBC1D2_uc004ayq.2_Missense_Mutation_p.R358Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.R140Q|TBC1D2_uc004ayo.3_Missense_Mutation_p.R358Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	358	Potential.|Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGCTCCAGCCGGTCCTTGTC	0.701													T	100983416	C	T	100983416	3	4	230	1	0	0	0	0	1	0	0	0	15605	652	23	1	1712	1	TBC1D2	9	100983416	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2752131	100983416	40230015	282	116456											
ANKS6	203286	broad.mit.edu	37	chr9	101536344	101536344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcactcgggagtctggtgaGgggagctccgtttcgaagct	16	9	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:101536344G>T	uc004ayu.2	-	9	1657	c.1636C>A	c.(1636-1638)CTC>ATC	p.L546I	ANKS6_uc004ayt.2_Missense_Mutation_p.L245I|ANKS6_uc004ayv.1_Missense_Mutation_p.L8I|ANKS6_uc004ayw.1_Missense_Mutation_p.L128I|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	546										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				AGTCTGGTGAGGGGAGCTCCG	0.562													T	101536344	G	T	101536344	3	4	230	1	0	0	0	0	1	0	0	0	692	1000	35	5	1007	5	ANKS6	9	101536344	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	552928	101536344	39677087	283	116457											
ANKS6	203286	broad.mit.edu	37	chr9	101544793	101544793	+	Frame_Shift_Del	DEL	T	T	-													ggtcaaaggccgtgtatccaTtttttgcacgaagagtgaca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:101544792_101544792AT>A	uc004ayu.3	-	4	1197	c.1176_1176AT>T	c.(1174-1176)aatfs	p.N392fs	ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Frame_Shift_Del_p.N91fs	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	392										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCGTGTATCCATTTTTTGCAC	0.433													-	101544793	T	-	101544793	7	5	230	1	0	1	0	1	0	0	0	0	692	1493	52	0	1484	0	ANKS6	9	101544793	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	8449	101544793	39668638	284	116458											
ALDOB	229	broad.mit.edu	37	chr9	104193132	104193132	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttctgagagctccttcTtctgctcctgggtgagggct	11	11	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:104193132T>G	uc004bbk.2	-	2	120	c.38A>C	c.(37-39)AAG>ACG	p.K13T		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	13					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			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GAGCTCCTTCTTCTGCTCCTG	0.517													G	104193132	T	G	104193132	3	3	230	1	0	0	0	0	1	0	0	0	508	1609	56	5	1088	5	ALDOB	9	104193132	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	2648339	104193132	37020299	285	116459											
ORM1	5004	broad.mit.edu	37	chr9	117087179	117087179	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctgtctgtctatggTaggcatgcttagcagcccca	14	10	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:117087179T>C	uc004bik.3	+	4	547	c.436_splice	c.e4+2	p.A146_splice	ORM1_uc011lxo.1_Splice_Site_p.A146_splice	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor						acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	CTGTCTATGGTAGGCATGCTT	0.582													C	117087179	T	C	117087179	5	2	230	1	0	0	0	0	0	0	1	0	11267	1652	57	3	452	3	ORM1	9	117087179	Splice_Site	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	12894047	117087179	24126252	286	116460											
C5	727	broad.mit.edu	37	chr9	123723779	123723779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctacacacttgcacgcGgctccttcacagactttctg	6	16	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:123723779G>A	uc004bkv.2	-	37	4599	c.4569C>T	c.(4567-4569)GCC>GCT	p.A1523A		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1523					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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACTTGCACGCGGCTCCTTCAC	0.388													A	123723779	G	A	123723779	2	1	230	1	0	0	0	0	0	0	0	1	2280	1103	39	1		1	C5	9	123723779	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6636600	123723779	17489652	287	116461											
RBM18	92400	broad.mit.edu	37	chr9	125004207	125004207	+	Frame_Shift_Del	DEL	T	T	-													tctagaatatggagtagtccTttttttatctggtggcttaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:125004207delT	uc004bma.2	-	6	695	c.529delA	c.(529-531)AGGfs	p.R177fs	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	177							nucleotide binding|RNA binding				0						GGAGTAGTCCTTTTTTTATCT	0.403													-	125004207	T	-	125004207	7	5	230	1	0	1	0	1	0	0	0	0	13120	1608	56	0	47	0	RBM18	9	125004207	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	1280428	125004207	16209224	288	116462											
OR1K1	392392	broad.mit.edu	37	chr9	125562773	125562773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcctatgactgctaCgtggccatccggcaccccct	10	17	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:125562773C>T	uc011lze.1	+	1	372	c.372C>T	c.(370-372)TAC>TAT	p.Y124Y		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGACTGCTACGTGGCCATCC	0.622													T	125562773	C	T	125562773	2	4	230	1	0	0	0	0	0	0	0	1	10962	547	19	1		1	OR1K1	9	125562773	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	558566	125562773	15650658	289	116463											
ZBTB34	403341	broad.mit.edu	37	chr9	129642652	129642652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccgaggagggcgtgcccGccagaagcgggctttgtctg	16	11	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:129642652G>A	uc004bqm.3	+	2	1059	c.962G>A	c.(961-963)CGC>CAC	p.R321H		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGGCGTGCCCGCCAGAAGCGG	0.572													A	129642652	G	A	129642652	3	1	230	1	0	0	0	0	1	0	0	0	17534	1087	38	1	964	1	ZBTB34	9	129642652	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4079879	129642652	11570779	290	116464											
ZER1	10444	broad.mit.edu	37	chr9	131512933	131512933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgccattcagcaccaCctggataacctgccggcgca	8	16	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:131512933C>A	uc004bwa.1	-	8	1754	c.1321G>T	c.(1321-1323)GTG>TTG	p.V441L		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	441	ARM 1.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TTCAGCACCACCTGGATAACC	0.602													A	131512933	C	A	131512933	3	1	230	1	0	0	0	0	1	0	0	0	17622	507	18	5	1015	5	ZER1	9	131512933	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1870281	131512933	9700498	291	116465											
CRAT	1384	broad.mit.edu	37	chr9	131862838	131862838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgttgagcctgctgccGcccccatgcagcatctggcc	11	18	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:131862838G>A	uc004bxh.2	-	7	1218	c.936C>T	c.(934-936)GGC>GGT	p.G312G	CRAT_uc004bxg.2_Silent_p.G291G|CRAT_uc004bxk.3_Silent_p.G291G	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	312					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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCCTGCTGCCGCCCCCATGCA	0.627													A	131862838	G	A	131862838	2	1	230	1	0	0	0	0	0	0	0	1	3847	1074	38	1		1	CRAT	9	131862838	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	349905	131862838	9350593	292	116466											
GTF3C4	9329	broad.mit.edu	37	chr9	135553727	135553727	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggattttgctgagtttcagAggagacacagcatgcagacc	13	8	1	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:135553727A>T	uc010mzv.2	+	2	979	c.721A>T	c.(721-723)AGG>TGG	p.R241W	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	241					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGAGTTTCAGAGGAGACACAG	0.517													T	135553727	A	T	135553727	3	4	230	1	0	0	0	0	1	0	0	0	6875	295	11	5	727	5	GTF3C4	9	135553727	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	3690889	135553727	5659704	293	116467											
OLFM1	10439	broad.mit.edu	37	chr9	138011444	138011444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaatttcacctcccaccGtctcccccacccctggtcgg	7	20	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:138011444G>A	uc010nar.2	+	6	1194	c.878G>A	c.(877-879)CGT>CAT	p.R293H	OLFM1_uc004cfl.3_Missense_Mutation_p.R275H|OLFM1_uc004cfn.3_Missense_Mutation_p.R44H	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	293	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCTCCCACCGTCTCCCCCAC	0.532													A	138011444	G	A	138011444	3	1	230	1	0	0	0	0	1	0	0	0	10852	1145	40	1	856	1	OLFM1	9	138011444	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2457717	138011444	3201987	294	116468											
MAMDC4	158056	broad.mit.edu	37	chr9	139753497	139753497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcacagtgctcagggCcagctggctgtgtggggcgc	17	12	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:139753497C>T	uc004cjs.2	+	24	3047	c.2997C>T	c.(2995-2997)GGC>GGT	p.G999G	MAMDC4_uc011mej.1_Silent_p.G336G	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	1078	Extracellular (Potential).|MAM 6.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		GTGCTCAGGGCCAGCTGGCTG	0.682													T	139753497	C	T	139753497	2	4	230	1	0	0	0	0	0	0	0	1	9204	726	26	2		2	MAMDC4	9	139753497	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1742053	139753497	1459934	295	116469											
NDOR1	27158	broad.mit.edu	37	chr9	140110805	140110805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggactctgcagcccggaCgcagccgcgtatctagccag	14	14	2	0	rs143516871		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr9:140110805C>T	uc004clw.2	+	14	1842	c.1731C>T	c.(1729-1731)GAC>GAT	p.D577D	NDOR1_uc004clx.2_Silent_p.D586D|NDOR1_uc011mes.1_Silent_p.D570D|NDOR1_uc004cly.2_3'UTR	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	577					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				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCCCGGACGCAGCCGCGT	0.672													T	140110805	C	T	140110805	2	4	230	1	0	0	0	0	0	0	0	1	10249	535	19	1		1	NDOR1	9	140110805	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	357308	140110805	1102626	296	116470											
TUBAL3	79861	broad.mit.edu	37	chr10	5435603	5435603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaaatgctctcttggcGtacatgaggtcaaacttgtg	11	8	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:5435603G>A	uc001ihy.2	-	4	1258	c.1218C>T	c.(1216-1218)TAC>TAT	p.Y406Y	TUBAL3_uc001ihz.2_Silent_p.Y366Y	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	406					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						CTCTCTTGGCGTACATGAGGT	0.582													A	5435603	G	A	5435603	2	1	230	1	0	0	0	0	0	0	0	1	16748	1140	40	1		1	TUBAL3	10	5435603	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		5435603	130099144	297	116471											
SFMBT2	57713	broad.mit.edu	37	chr10	7269899	7269899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtcctggccagagtaaCctgggaatgacaaaacacag	11	10	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:7269899C>A	uc009xio.1	-	10	1212	c.1121G>T	c.(1120-1122)GGT>GTT	p.G374V	SFMBT2_uc001ijn.1_Missense_Mutation_p.G374V|SFMBT2_uc010qay.1_Missense_Mutation_p.G374V	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	374					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GCCAGAGTAACCTGGGAATGA	0.473													A	7269899	C	A	7269899	3	1	230	1	0	0	0	0	1	0	0	0	14158	521	18	5	1611	5	SFMBT2	10	7269899	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1834296	7269899	128264848	298	116472											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696453	+	Frame_Shift_Ins	INS	-	-	G													gatgtggtgggggctgcttgINSggggggtggctccaatttca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:13696451_13696452T>TG	uc001ims.3	-	22	3366_3367	c.3014_3015A>CA	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Ins_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGGC	0.535													G	13696453	-	G	13696452	7	5	230	1	0	1	1	0	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	6426553	13696452	121838295	299	116473											
PLXDC2	84898	broad.mit.edu	37	chr10	20290822	20290822	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctcaaggcggtagacacGaaccgagcaagcgtcggcca	12	12	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:20290822G>A	uc001iqg.1	+	2	868	c.231G>A	c.(229-231)ACG>ACA	p.T77T	PLXDC2_uc001iqh.1_Silent_p.T77T	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	77	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CGGTAGACACGAACCGAGCAA	0.537													A	20290822	G	A	20290822	2	1	230	1	0	0	0	0	0	0	0	1	12118	1045	37	1		1	PLXDC2	10	20290822	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6594370	20290822	115243925	300	116474											
KIAA1217	56243	broad.mit.edu	37	chr10	24832909	24832909	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaccagtttgaaagccccaaGaaaaagtttaaattcaaatt	6	7	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:24832909G>T	uc001iru.3	+	19	5113	c.4710G>T	c.(4708-4710)AAG>AAT	p.K1570N	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.K1253N|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.K406N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1570					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AAAGCCCCAAGAAAAAGTTTA	0.468													T	24832909	G	T	24832909	3	4	230	1	0	0	0	0	1	0	0	0	8216	933	33	5	4784	5	KIAA1217	10	24832909	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4542087	24832909	110701838	301	116475											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650701	43650701	+	Frame_Shift_Del	DEL	C	C	-													tatgtacctcctggaatgtgCcccccagactgatggaaatg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:43650701delC	uc001jan.2	+	2	439	c.104delC	c.(103-105)GCCfs	p.A35fs	CSGALNACT2_uc001jam.1_Frame_Shift_Del_p.A35fs	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	35	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						CTGGAATGTGCCCCCCAGACT	0.458													-	43650701	C	-	43650701	7	5	230	1	0	1	0	1	0	0	0	0	3939	739	26	0	106	0	CSGALNACT2	10	43650701	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	18817792	43650701	91884046	302	116476											
C10orf71	118461	broad.mit.edu	37	chr10	50532451	50532451	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagaacaaggaggtggaaGgagagttggagatgggtcct	18	3	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:50532451G>T	uc010qgp.1	+	3	2200	c.1861G>T	c.(1861-1863)GGA>TGA	p.G621*		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	621											0						GGAGGTGGAAGGAGAGTTGGA	0.552													T	50532451	G	T	50532451	4	4	230	1	0	0	0	0	0	1	0	0	1614	1001	35	5	1863	5	C10orf71	10	50532451	Nonsense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6881750	50532451	85002296	303	116477											
CSTF2T	23283	broad.mit.edu	37	chr10	53457958	53457958	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctcttgcatccatgcccCttgcttccatccctctggtt	5	17	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:53457958C>A	uc001jjp.2	-	1	1398	c.1352G>T	c.(1351-1353)AGG>ATG	p.R451M	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	451	Gly-rich.|1-7; approximate.|9 X 5 AA tandem repeats of M-E-T-R-[AG].				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				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)		ATCCATGCCCCTTGCTTCCAT	0.532													A	53457958	C	A	53457958	3	1	230	1	0	0	0	0	1	0	0	0	3985	681	24	5	502	5	CSTF2T	10	53457958	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2925507	53457958	82076789	304	116478											
ANK3	288	broad.mit.edu	37	chr10	61932125	61932125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactactgagatgtagcCgaggcgccgggcaatgccaa	13	12	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:61932125C>T	uc001jky.2	-	21	2611	c.2419G>A	c.(2419-2421)GGC>AGC	p.G807S	ANK3_uc001jkx.2_5'UTR|ANK3_uc010qih.1_Missense_Mutation_p.G790S|ANK3_uc001jkz.3_Missense_Mutation_p.G801S|ANK3_uc001jlb.1_Missense_Mutation_p.G336S|ANK3_uc001jlc.1_Missense_Mutation_p.G468S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	807	ANK 23.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GAGATGTAGCCGAGGCGCCGG	0.478													T	61932125	C	T	61932125	3	4	230	1	0	0	0	0	1	0	0	0	622	652	23	1	11139	1	ANK3	10	61932125	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	8474167	61932125	73602622	305	116479											
JMJD1C	221037	broad.mit.edu	37	chr10	64966902	64966903	+	Frame_Shift_Ins	INS	-	-	T													gggaggctgaaagtgtctgaINSttttttatagcattaggttc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:64966902_64966903insT	uc001jmn.2	-	10	4826_4827	c.4526_4527insA	c.(4525-4527)AATfs	p.N1509fs	JMJD1C_uc001jml.2_Frame_Shift_Ins_p.N1290fs|JMJD1C_uc001jmm.2_Frame_Shift_Ins_p.N1221fs|JMJD1C_uc010qiq.1_Frame_Shift_Ins_p.N1327fs|JMJD1C_uc009xpi.2_Frame_Shift_Ins_p.N1327fs|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Frame_Shift_Ins_p.N546fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1509					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAAGTGTCTGATTTTTTATAGC	0.401													T	64966903	-	T	64966902	7	5	230	1	0	1	1	0	0	0	0	0	7950	330	12	0	3163	0	JMJD1C	10	64966902	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	3034777	64966902	70567845	306	116480	550	2									
JMJD1C	221037	broad.mit.edu	37	chr10	64966903	64966904	+	Frame_Shift_Ins	INS	-	-	T													ggaggctgaaagtgtctgatINStttttatagcattaggttca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:64966902_64966903A>AT	uc001jmn.3	-	9	4826_4827	c.4526_4527T>AT	c.(4525-4527)aatfs	p.N1509fs	JMJD1C_uc001jml.3_Frame_Shift_Ins_p.N1290fs|JMJD1C_uc001jmm.3_Frame_Shift_Ins_p.N1221fs|JMJD1C_uc010qiq.2_Frame_Shift_Ins_p.N1327fs|JMJD1C_uc009xpi.3_Frame_Shift_Ins_p.N1327fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Ins_p.N546fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1509					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)					AAAGTGTCTGATTTTTTATAGC	0.401													T	64966904	-	T	64966903	7	5	230	1	0	1	1	0	0	0	0	0	7950	1493	52	0	3164	0	JMJD1C	10	64966903	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	64966903	70567844	307	116481	550	2									
HK1	3098	broad.mit.edu	37	chr10	71139813	71139813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccaggctgcggaccacGgttggtgtcgacggatctct	13	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:71139813G>A	uc001jpl.3	+	9	1328	c.1227G>A	c.(1225-1227)ACG>ACA	p.T409T	HK1_uc001jpg.3_Silent_p.T397T|HK1_uc001jph.3_Silent_p.T413T|HK1_uc001jpi.3_Silent_p.T413T|HK1_uc001jpj.3_Silent_p.T444T|HK1_uc001jpk.3_Silent_p.T408T|HK1_uc009xqd.2_Silent_p.T287T	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	409	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TGCGGACCACGGTTGGTGTCG	0.567													A	71139813	G	A	71139813	2	1	230	1	0	0	0	0	0	0	0	1	7190	1103	39	1		1	HK1	10	71139813	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6172910	71139813	64394934	308	116482											
ZMYND17	118490	broad.mit.edu	37	chr10	75187827	75187829	+	In_Frame_Del	DEL	TTC	TTC	-													gagctggtcactcacttataTtcttcatagcttttcatgtt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:75187827_75187829delTTC	uc001jud.2	-	2	280_282	c.214_216delGAA	c.(214-216)GAAdel	p.E72del	ZMYND17_uc001juc.2_In_Frame_Del_p.E72del|ZMYND17_uc009xrh.2_In_Frame_Del_p.E95del|ZMYND17_uc009xrg.2_5'UTR	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	72							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					CTCACTTATATTCTTCATAGCTT	0.424													-	75187829	TTC	-	75187827	7	5	230	1	0	1	0	1	0	0	0	0	17706	1490	52	0	1190	0	ZMYND17	10	75187827	In_Frame_Del	DEL	TTC	TCGA-D7-A4YY-01A-11D-A25D-08	4048014	75187827	60346920	309	116483											
CAMK2G	818	broad.mit.edu	37	chr10	75574931	75574931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatgtaggcgatgcacgCtgcgtcctccccaatcacgt	12	14	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:75574931C>T	uc001jvm.1	-	20	1632	c.1513G>A	c.(1513-1515)GCG>ACG	p.A505T	CAMK2G_uc001jvo.1_Missense_Mutation_p.A476T|CAMK2G_uc001jvq.1_Missense_Mutation_p.A453T|CAMK2G_uc001jvr.1_Missense_Mutation_p.A444T|CAMK2G_uc001jvp.1_Missense_Mutation_p.A467T|CAMK2G_uc001jvs.1_Missense_Mutation_p.A488T|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.A445T|CAMK2G_uc009xrp.1_Missense_Mutation_p.A94T	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	507					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					GCGATGCACGCTGCGTCCTCC	0.622													T	75574931	C	T	75574931	3	4	230	1	0	0	0	0	1	0	0	0	2602	797	28	2	161	2	CAMK2G	10	75574931	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	387104	75574931	59959816	310	116484											
POLR3A	11128	broad.mit.edu	37	chr10	79789145	79789145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggccacatccgtctcCcggaactgctccttcaccat	6	17	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:79789145C>T	uc001jzn.2	-	1	115	c.21G>A	c.(19-21)CGG>CGA	p.R7R		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	7					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				0	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)			CATCCGTCTCCCGGAACTGCT	0.607											OREG0020298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	79789145	C	T	79789145	2	4	230	1	0	0	0	0	0	0	0	1	12228	610	22	4		4	POLR3A	10	79789145	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	4214214	79789145	55745602	311	116485											
GHITM	27069	broad.mit.edu	37	chr10	85901266	85901266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaccaccatgttggctGcaaggctggtgtgtctccgg	13	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:85901266G>A	uc001kcs.1	+	2	214	c.10G>A	c.(10-12)GCA>ACA	p.A4T	GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	4				A -> V (in Ref. 4; CAB66648).	apoptosis	integral to membrane|mitochondrial inner membrane					0						CATGTTGGCTGCAAGGCTGGT	0.458													A	85901266	G	A	85901266	3	1	230	1	0	0	0	0	1	0	0	0	6370	1319	46	2	12	2	GHITM	10	85901266	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6112121	85901266	49633481	312	116486											
LRIT1	26103	broad.mit.edu	37	chr10	85992427	85992427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcctggccaccagcttGttgttgtaagcagcagcttc	10	12	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:85992427G>A	uc001kcz.1	-	4	1150	c.1128C>T	c.(1126-1128)AAC>AAT	p.N376N		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	376	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						CCACCAGCTTGTTGTTGTAAG	0.597													A	85992427	G	A	85992427	2	1	230	1	0	0	0	0	0	0	0	1	8947	1368	48	4		4	LRIT1	10	85992427	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	91161	85992427	49542320	313	116487											
HPSE2	60495	broad.mit.edu	37	chr10	100904111	100904111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagggtgctgggcaatcTtgcagcctttctgtttatct	10	10	4	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:100904111T>C	uc001kpn.1	-	3	554	c.494A>G	c.(493-495)AAG>AGG	p.K165R	HPSE2_uc009xwc.1_Missense_Mutation_p.K155R|HPSE2_uc001kpo.1_Missense_Mutation_p.K155R|HPSE2_uc009xwd.1_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	165					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTGGGCAATCTTGCAGCCTTT	0.408													C	100904111	T	C	100904111	3	2	230	1	0	0	0	0	1	0	0	0	7345	1609	56	3	1362	3	HPSE2	10	100904111	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	14911684	100904111	34630636	314	116488											
GOT1	2805	broad.mit.edu	37	chr10	101180555	101180555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggatggcagtcatccgtGcgatatgctggagaatggaa	15	7	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:101180555G>A	uc001kpr.2	-	2	334	c.126C>T	c.(124-126)CGC>CGT	p.R42R	GOT1_uc009xwh.2_RNA|GOT1_uc009xwi.2_Silent_p.R42R|GOT1_uc001kpq.1_5'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	42					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		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)	AGTCATCCGTGCGATATGCTG	0.458													A	101180555	G	A	101180555	2	1	230	1	0	0	0	0	0	0	0	1	6579	1306	46	2		2	GOT1	10	101180555	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	276444	101180555	34354192	315	116489											
FBXL15	79176	broad.mit.edu	37	chr10	104182697	104182697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctgcaccaggccctgGtgctgctgcaggatatggcg	15	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:104182697G>T	uc001kvk.2	+	4	2166	c.850G>T	c.(850-852)GTG>TTG	p.V284L	FBXL15_uc001kvl.1_Missense_Mutation_p.V371L	NM_024326	NP_077302	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	284					bone mineralization|dorsal/ventral pattern formation|G2/M transition of mitotic cell cycle|positive regulation of BMP signaling pathway|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CCAGGCCCTGGTGCTGCTGCA	0.677											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	104182697	G	T	104182697	3	4	230	1	0	0	0	0	1	0	0	0	5711	1261	44	5	864	5	FBXL15	10	104182697	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	3002142	104182697	31352050	316	116490											
SORCS1	114815	broad.mit.edu	37	chr10	108469079	108469079	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtacagttctgcattcGgcaagttagataatgtgaat	9	7	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:108469079G>A	uc001kym.2	-	7	1053	c.1045C>T	c.(1045-1047)CGA>TGA	p.R349*	SORCS1_uc001kyl.2_Nonsense_Mutation_p.R349*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.R349*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.R349*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.R349*	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	349	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCTGCATTCGGCAAGTTAGA	0.393													A	108469079	G	A	108469079	4	1	230	1	0	0	0	0	0	1	0	0	14930	1124	39	1	2775	1	SORCS1	10	108469079	Nonsense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4286382	108469079	27065668	317	116491											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118236283	118236283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaagattctcagaataAgttgggagcagaaatggtga	13	3	1	5			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:118236283A>G	uc001lcl.3	+	11	1393	c.1292A>G	c.(1291-1293)AAG>AGG	p.K431R		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	431	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303													G	118236283	A	G	118236283	3	3	230	1	0	0	0	0	1	0	0	0	12152	72	3	3	1334	3	PNLIPRP3	10	118236283	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	9767204	118236283	17298464	318	116492											
EMX2	2018	broad.mit.edu	37	chr10	119307706	119307706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatcgccaccaagcaggCgagtccggaggaaatagacg	14	10	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:119307706C>T	uc001ldh.3	+	3	1545	c.722C>T	c.(721-723)GCG>GTG	p.A241V	EMX2_uc001ldi.3_3'UTR	NM_004098	NP_004089	Q04743	EMX2_HUMAN	empty spiracles homeobox 2 isoform 1	241						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		ACCAAGCAGGCGAGTCCGGAG	0.478													T	119307706	C	T	119307706	3	4	230	1	0	0	0	0	1	0	0	0	5108	768	27	1	732	1	EMX2	10	119307706	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1071423	119307706	16227041	319	116493											
EBF3	253738	broad.mit.edu	37	chr10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-													caattatgatgacggtggcaCcccccgtggtccagccttca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:131666125delC	uc001lki.1	-	9	865	c.806delG	c.(805-807)GGTfs	p.G269fs		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	278	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)|pancreas(1)	2		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)		GACGGTGGCACCCCCCGTGGT	0.577													-	131666125	C	-	131666125	7	5	230	1	0	1	0	1	0	0	0	0	4882	507	18	0	881	0	EBF3	10	131666125	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	12358419	131666125	3868622	320	116494											
TUBGCP2	10844	broad.mit.edu	37	chr10	135096606	135096606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagttggtgaacatgacGcacacagacatgagcttgga	12	8	0	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr10:135096606G>A	uc001lmg.1	-	15	2622	c.2265C>T	c.(2263-2265)TGC>TGT	p.C755C	TUBGCP2_uc001lmf.1_Silent_p.C348C|TUBGCP2_uc010qvc.1_Silent_p.C783C|TUBGCP2_uc009ybk.1_Silent_p.C778C|TUBGCP2_uc010qvd.1_Silent_p.C625C|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	755					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		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)		TGAACATGACGCACACAGACA	0.627													A	135096606	G	A	135096606	2	1	230	1	0	0	0	0	0	0	0	1	16763	1079	38	1		1	TUBGCP2	10	135096606	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	3430481	135096606	438141	321	116495											
ILK	3611	broad.mit.edu	37	chr11	6629292	6629293	+	Frame_Shift_Ins	INS	-	-	C													aagggacgatcatggcttctINScccccttgcactgggcctgc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:6629292_6629293insC	uc001mee.2	+	3	241_242	c.106_107insC	c.(106-108)TCCfs	p.S36fs	ILK_uc001mef.2_Frame_Shift_Ins_p.S36fs|ILK_uc010rap.1_Intron|ILK_uc010raq.1_Frame_Shift_Ins_p.S36fs|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Frame_Shift_Ins_p.S36fs|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	36	ANK 2.|Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TCATGGCTTCTCCCCCTTGCAC	0.525													C	6629293	-	C	6629292	7	5	230	1	0	1	1	0	0	0	0	0	7713	1551	54	0	112	0	ILK	11	6629292	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08		6629292	128377224	322	116496	551	2									
ILK	3611	broad.mit.edu	37	chr11	6629293	6629294	+	Frame_Shift_Ins	INS	-	-	C													agggacgatcatggcttctcINSccccttgcactgggcctgcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:6629292_6629293T>TC	uc001mee.3	+	2	241_242	c.106_107T>TC	c.(106-108)tccfs	p.S36fs	ILK_uc001mef.3_Frame_Shift_Ins_p.S36fs|ILK_uc010rap.2_Intron|ILK_uc010raq.2_Frame_Shift_Ins_p.S36fs|ILK_uc001meh.3_Frame_Shift_Ins_p.S36fs	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	36	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TCATGGCTTCTCCCCCTTGCAC	0.535													C	6629294	-	C	6629293	7	5	230	1	0	1	1	0	0	0	0	0	7713	855	30	0	113	0	ILK	11	6629293	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	6629293	128377223	323	116497	551	2									
COPB1	1315	broad.mit.edu	37	chr11	14510133	14510133	+	Splice_Site	DEL	A	A	-													gtaatccaaagctcgatcctAaaaaaaataagaatatattt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					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|ER-Golgi intermediate compartment|cytosol|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						AGCTCGATCCTAAAAAAAATA	0.294													-	14510133	A	-	14510133	8	5	230	1	0	1	0	1	0	0	1	0	3728	377	13	0		0	COPB1	11	14510133	Splice_Site	DEL	A	TCGA-D7-A4YY-01A-11D-A25D-08	7880840	14510133	120496383	324	116498											
ABCC8	6833	broad.mit.edu	37	chr11	17417236	17417236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcagcggcagtttggCgatgtcaatgccatcaatga	14	8	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:17417236C>T	uc001mnc.2	-	35	4354	c.4228G>A	c.(4228-4230)GCC>ACC	p.A1410T		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1410	Cytoplasmic (By similarity).|ABC transporter 2.			A -> R (in Ref. 2; AAB36699/AAB36700).	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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCAGTTTGGCGATGTCAATG	0.632													T	17417236	C	T	17417236	3	4	230	1	0	0	0	0	1	0	0	0	58	768	27	1	537	1	ABCC8	11	17417236	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2907103	17417236	117589280	325	116499											
IGSF22	283284	broad.mit.edu	37	chr11	18736137	18736137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccagtggccgcgtgcacGtcggacatcccgctcttcac	10	18	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:18736137G>A	uc009yht.2	-	12	1756	c.1566C>T	c.(1564-1566)GAC>GAT	p.D522D	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	522										ovary(4)|large_intestine(2)|kidney(1)	7						CCGCGTGCACGTCGGACATCC	0.602													A	18736137	G	A	18736137	2	1	230	1	0	0	0	0	0	0	0	1	7600	1136	40	1		1	IGSF22	11	18736137	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1318901	18736137	116270379	326	116500											
MDK	4192	broad.mit.edu	37	chr11	46403892	46403893	+	Frame_Shift_Ins	INS	-	-	G													gagtgcgctgagtgggcctgINSggggccctgcacccccagca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:46403891_46403892T>TG	uc001nco.3	+	2	346_347	c.124_125T>TG	c.(124-126)tggfs	p.W42fs	MDK_uc009ykz.1_Frame_Shift_Ins_p.W42fs|MDK_uc001ncp.3_Frame_Shift_Ins_p.W42fs|MDK_uc009yla.3_Intron|MDK_uc009ylb.3_Frame_Shift_Ins_p.W42fs|MDK_uc001ncq.3_Frame_Shift_Ins_p.W42fs	NM_001012334	NP_002382	P21741	MK_HUMAN	Homo sapiens midkine (neurite growth-promoting factor 2) (MDK), transcript variant 1, mRNA.	42					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		TGAGTGGGCCTGGGGGCCCTGC	0.693													G	46403893	-	G	46403892	7	5	230	1	0	1	1	0	0	0	0	0	9411	1357	47	0	131	0	MDK	11	46403892	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	27667755	46403892	88602624	327	116501											
GANAB	23193	broad.mit.edu	37	chr11	62397125	62397125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttccatgcccccagagCgctgtctcagcccatcagca	10	17	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:62397125C>T	uc001nub.2	-	15	1802	c.1769G>A	c.(1768-1770)CGC>CAC	p.R590H	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.R612H|GANAB_uc001nuc.2_Missense_Mutation_p.R493H|GANAB_uc010rma.1_Missense_Mutation_p.R498H|GANAB_uc010rmb.1_Missense_Mutation_p.R476H	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	590					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			ovary(3)|central_nervous_system(1)|skin(1)	5						GCCCCCAGAGCGCTGTCTCAG	0.587													T	62397125	C	T	62397125	3	4	230	1	0	0	0	0	1	0	0	0	6233	768	27	1	1105	1	GANAB	11	62397125	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	15993233	62397125	72609391	328	116502											
NXF1	10482	broad.mit.edu	37	chr11	62567923	62567923	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctcttctagcttcagCccctttatcttgtccaattc	5	14	4	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:62567923C>T	uc001nvf.1	-	10	1078	c.942G>A	c.(940-942)GGG>GGA	p.G314G	NXF1_uc001nvg.1_Silent_p.G314G|NXF1_uc009yog.1_Silent_p.G357G|NXF1_uc010rmh.1_Silent_p.G177G	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	314	LRR 2.|Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						CTAGCTTCAGCCCCTTTATCT	0.547													T	62567923	C	T	62567923	2	4	230	1	0	0	0	0	0	0	0	1	10782	726	26	2		2	NXF1	11	62567923	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	170798	62567923	72438593	329	116503											
KCNK4	50801	broad.mit.edu	37	chr11	64064727	64064727	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctccctgcgccatggcatCggtcacattgaagccatctt	8	15	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:64064727C>T	uc001nzj.1	+	4	773	c.450C>T	c.(448-450)ATC>ATT	p.I150I	KCNK4_uc009ypl.1_Missense_Mutation_p.S123L|KCNK4_uc001nzk.1_Missense_Mutation_p.S84L|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.S84L|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.I150I|KCNK4_uc001nzo.2_Silent_p.I150I|KCNK4_uc001nzp.1_5'UTR	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	150	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						GCCATGGCATCGGTCACATTG	0.627													T	64064727	C	T	64064727	2	4	230	1	0	0	0	0	0	0	0	1	8068	874	31	1		1	KCNK4	11	64064727	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1496804	64064727	70941789	330	116504											
C11orf85	283129	broad.mit.edu	37	chr11	64714903	64714903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgttttcgtttcctcAtcacagctcctactgctttc	5	14	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:64714903A>G	uc001ocb.1	-	7	490	c.416T>C	c.(415-417)ATG>ACG	p.M139T	C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Missense_Mutation_p.M61T	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	139											0						TCGTTTCCTCATCACAGCTCC	0.522													G	64714903	A	G	64714903	3	3	230	1	0	0	0	0	1	0	0	0	1668	217	8	3	246	3	C11orf85	11	64714903	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	650176	64714903	70291613	331	116505											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714876	65714876	+	Frame_Shift_Del	DEL	C	C	-													aaggggagctaggatcagagCcccccagtggtctccagctg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:65714876delC	uc001ogk.1	+	5	612	c.580delC	c.(580-582)CCCfs	p.P194fs	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	194											0						AGGATCAGAGCCCCCCAGTGG	0.642													-	65714876	C	-	65714876	7	5	230	1	0	1	0	1	0	0	0	0	16615	739	26	0	590	0	TSGA10IP	11	65714876	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	999973	65714876	69291640	332	116506											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810630	65810630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtcgtcgcgcgggctgCgctcattgtcgccgcccagg	16	16	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:65810630C>T	uc001ogv.2	-	2	804	c.644G>A	c.(643-645)CGC>CAC	p.R215H	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R215H	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	215	Lumenal (Potential).				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			ovary(1)	1						GCGCGGGCTGCGCTCATTGTC	0.667													T	65810630	C	T	65810630	3	4	230	1	0	0	0	0	1	0	0	0	6199	768	27	1	655	1	GAL3ST3	11	65810630	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	95754	65810630	69195886	333	116507											
SF3B2	10992	broad.mit.edu	37	chr11	65828076	65828076	+	Frame_Shift_Del	DEL	A	A	-													gaacagaagaccatgaagtcAaaaatgcgagagaaagttcg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:65828076delA	uc001ogy.1	+	14	1693	c.1653delA	c.(1651-1653)TCAfs	p.S551fs		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	551					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CCATGAAGTCAAAAATGCGAG	0.448													-	65828076	A	-	65828076	7	5	230	1	0	1	0	1	0	0	0	0	14151	117	5	0	1707	0	SF3B2	11	65828076	Frame_Shift_Del	DEL	A	TCGA-D7-A4YY-01A-11D-A25D-08	17446	65828076	69178440	334	116508											
IGHMBP2	3508	broad.mit.edu	37	chr11	68696803	68696803	+	Frame_Shift_Del	DEL	C	C	-													cgggcgatcacaagcagctgCcccccaccacagtctctcac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:68696802_68696802GC>G	uc001ook.1	+	7	1314	c.1212_1212GC>G	c.(1210-1212)ctgfs	p.L404fs	IGHMBP2_uc001ooj.1_Non-coding_Transcript|IGHMBP2_uc001ool.1_5'Flank|IGHMBP2_uc001oom.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	404	Leu-rich.				DNA recombination|DNA repair|DNA replication|cell death|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|tRNA binding|transcription factor 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)			ACAAGCAGCTGCCCCCCACCA	0.642													-	68696803	C	-	68696803	7	5	230	1	0	1	0	1	0	0	0	0	7591	739	26	0	1243	0	IGHMBP2	11	68696803	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	2868727	68696803	66309713	335	116509											
ARAP1	116985	broad.mit.edu	37	chr11	72410591	72410591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggacacaccagcgccggCtgaactctggggagaatttg	13	11	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:72410591C>A	uc001osu.2	-	17	2498	c.2309G>T	c.(2308-2310)AGC>ATC	p.S770I	ARAP1_uc001osv.2_Missense_Mutation_p.S770I|ARAP1_uc001osr.2_Missense_Mutation_p.S530I|ARAP1_uc001oss.2_Missense_Mutation_p.S525I|ARAP1_uc009yth.2_Missense_Mutation_p.S464I|ARAP1_uc010rre.1_Missense_Mutation_p.S525I|ARAP1_uc001osw.1_Missense_Mutation_p.S58I	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	770	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			skin(1)	1						CCAGCGCCGGCTGAACTCTGG	0.622													A	72410591	C	A	72410591	3	1	230	1	0	0	0	0	1	0	0	0	838	797	28	5	2119	5	ARAP1	11	72410591	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3713788	72410591	62595925	336	116510											
SERPINH1	871	broad.mit.edu	37	chr11	75282887	75282887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaggccgacttgtcacGcatgtcaggcaagaaggacc	12	11	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:75282887G>A	uc001owr.2	+	5	1245	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H	SERPINH1_uc009yug.2_Missense_Mutation_p.R339H|SERPINH1_uc001ows.2_Missense_Mutation_p.R339H|SERPINH1_uc001owt.2_Missense_Mutation_p.R122H	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	339					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					GACTTGTCACGCATGTCAGGC	0.587													A	75282887	G	A	75282887	3	1	230	1	0	0	0	0	1	0	0	0	14117	1087	38	1	1030	1	SERPINH1	11	75282887	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2872296	75282887	59723629	337	116511											
CAPN5	726	broad.mit.edu	37	chr11	76796090	76796090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccgccgtcaggtggaagcGacccaaggtcagtgtctggt	15	12	3	0	rs142613341		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:76796090G>A	uc001oxx.2	+	2	343	c.158G>A	c.(157-159)CGA>CAA	p.R53Q	CAPN5_uc009yup.2_Missense_Mutation_p.R53Q|CAPN5_uc009yuq.2_Missense_Mutation_p.R89Q|CAPN5_uc001oxy.2_Missense_Mutation_p.R93Q	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	53	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						AGGTGGAAGCGACCCAAGGTC	0.687													A	76796090	G	A	76796090	3	1	230	1	0	0	0	0	1	0	0	0	2629	1058	37	1	160	1	CAPN5	11	76796090	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1513203	76796090	58210426	338	116512											
C11orf82	220042	broad.mit.edu	37	chr11	82643006	82643006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttacttgctttagatcActcaaatagtgatctcagca	5	10	4	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:82643006A>G	uc001ozt.2	+	6	870	c.626A>G	c.(625-627)CAC>CGC	p.H209R	C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	209					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						GCTTTAGATCACTCAAATAGT	0.383													G	82643006	A	G	82643006	3	3	230	1	0	0	0	0	1	0	0	0	1665	159	6	3	640	3	C11orf82	11	82643006	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	5846916	82643006	52363510	339	116513											
TAF1D	79101	broad.mit.edu	37	chr11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-													gctggtacctcctctttttcTtttttttatatctctttttc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:93471452_93471452CT>C	uc001ped.3	-	2	525	c.282_282AG>G	c.(280-282)aagfs	p.K94fs	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCCTCTTTTTCTTTTTTTTAT	0.343													-	93471453	T	-	93471453	7	5	230	1	0	1	0	1	0	0	0	0	15519	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	10828447	93471453	41535063	340	116514											
FAM76B	143684	broad.mit.edu	37	chr11	95520842	95520842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaaattgtgttagttttGctgaaaaataaattgtatat	6	2	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:95520842G>A	uc001pfn.2	-	3	465	c.153C>T	c.(151-153)AGC>AGT	p.S51S	CEP57_uc001pfo.1_5'Flank|CEP57_uc010ruh.1_5'Flank|CEP57_uc010rui.1_5'Flank|CEP57_uc009ywn.1_5'Flank|CEP57_uc001pfp.1_5'Flank|CEP57_uc001pfq.1_5'Flank|CEP57_uc001pfr.1_5'Flank|FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	51											0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTAGTTTTGCTGAAAAATA	0.279													A	95520842	G	A	95520842	2	1	230	1	0	0	0	0	0	0	0	1	5625	1333	46	2		2	FAM76B	11	95520842	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2049389	95520842	39485674	341	116515											
CNTN5	53942	broad.mit.edu	37	chr11	100168355	100168355	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccacccatttttatccacAgttccgaagacagcacccac	4	17	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:100168355A>C	uc001pga.2	+	19	2654	c.2315_splice	c.e19-2	p.V772_splice	CNTN5_uc001pfz.2_Splice_Site_p.V772_splice|CNTN5_uc001pgb.2_Splice_Site_p.V698_splice|CNTN5_uc010ruk.1_Splice_Site_p.V43_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long						cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		TTTTATCCACAGTTCCGAAGA	0.428													C	100168355	A	C	100168355	5	2	230	1	0	0	0	0	0	0	1	0	3644	202	7	5	2379	5	CNTN5	11	100168355	Splice_Site	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	4647513	100168355	34838161	342	116516											
MMP3	4314	broad.mit.edu	37	chr11	102711277	102711277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggctgagtgaaagagacCcagggagtggccaatttcat	14	7	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:102711277C>A	uc001phj.1	-	5	738	c.673G>T	c.(673-675)GGT>TGT	p.G225C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	225					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TGAAAGAGACCCAGGGAGTGG	0.403													A	102711277	C	A	102711277	3	1	230	1	0	0	0	0	1	0	0	0	9666	623	22	5	784	5	MMP3	11	102711277	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2542922	102711277	32295239	343	116517											
CWF19L2	143884	broad.mit.edu	37	chr11	107207380	107207381	+	Frame_Shift_Ins	INS	-	-	A													tcatgctcatattagtttccINSaaaaaaatgcagtctaatcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:107207380_107207381insA	uc010rvp.1	-	15	2291_2292	c.2261_2262insT	c.(2260-2262)TTGfs	p.L754fs	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	754							catalytic activity				0		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)		TATTAGTTTCCAAAAAAATGCA	0.327													A	107207381	-	A	107207380	7	5	230	1	0	1	1	0	0	0	0	0	4072	593	21	0	438	0	CWF19L2	11	107207380	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	4496103	107207380	27799136	344	116518											
RAB39	54734	broad.mit.edu	37	chr11	107832989	107832989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatgaacttattaaaaaggGagaaatttgtattcaggatg	9	2	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:107832989G>A	uc001pjt.2	+	2	563	c.545G>A	c.(544-546)GGA>GAA	p.G182E		NM_017516	NP_059986	Q14964	RB39A_HUMAN	RAB39, member RAS oncogene family	182					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0				BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)		ATTAAAAAGGGAGAAATTTGT	0.383													A	107832989	G	A	107832989	3	1	230	1	0	0	0	0	1	0	0	0	12929	1174	41	4	551	4	RAB39	11	107832989	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	625609	107832989	27173527	345	116519											
SDHD	6392	broad.mit.edu	37	chr11	111965589	111965589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttgcagaaagctgccaaGgcagggcttttggcactttc	12	11	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:111965589G>T	uc001pmz.2	+	4	436	c.375G>T	c.(373-375)AAG>AAT	p.K125N		NM_003002	NP_002993	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D	125	Helical; (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	AAGCTGCCAAGGCAGGGCTTT	0.438			Mis|N|F|S			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				T	111965589	G	T	111965589	3	4	230	1	0	0	0	0	1	0	0	0	13967	991	35	5	389	5	SDHD	11	111965589	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4132600	111965589	23040927	346	116520											
TTC12	54970	broad.mit.edu	37	chr11	113222930	113222930	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctgcttgagcctcctgGtatgttagcttttctattca	9	9	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:113222930G>A	uc001pnu.2	+	16	1551	c.1446_splice	c.e16+1	p.L482_splice	TTC12_uc001pnv.2_Splice_Site_p.L488_splice|TTC12_uc001pnw.2_Splice_Site|TTC12_uc001pnx.2_Splice_Site_p.L332_splice	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12								binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAGCCTCCTGGTATGTTAGCT	0.473													A	113222930	G	A	113222930	5	1	230	1	0	0	0	0	0	0	1	0	16676	1275	44	4	1505	4	TTC12	11	113222930	Splice_Site	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1257341	113222930	21783586	347	116521											
FAM55D	54827	broad.mit.edu	37	chr11	114442059	114442059	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcccgggtgaggtactccatCtctttgactgaataggtcat	11	10	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:114442059C>A	uc001ppc.2	-	6	1417	c.1236G>T	c.(1234-1236)GAG>GAT	p.E412D	FAM55D_uc001ppd.2_Missense_Mutation_p.E128D	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	412						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GGTACTCCATCTCTTTGACTG	0.438													A	114442059	C	A	114442059	3	1	230	1	0	0	0	0	1	0	0	0	5587	912	32	5	402	5	FAM55D	11	114442059	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1219129	114442059	20564457	348	116522											
SIK3	23387	broad.mit.edu	37	chr11	116717249	116717249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtctgggtgctcatgacCtcccaggcttgccccacatt	10	15	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:116717249C>A	uc001ppy.2	-	23	3691	c.3655G>T	c.(3655-3657)GGT>TGT	p.G1219C	SIK3_uc001ppz.2_Missense_Mutation_p.G1058C|SIK3_uc001pqa.2_Missense_Mutation_p.G1159C|SIK3_uc001ppw.2_Missense_Mutation_p.G576C|SIK3_uc001ppx.2_Missense_Mutation_p.G597C	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1219						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TGCTCATGACCTCCCAGGCTT	0.522													A	116717249	C	A	116717249	3	1	230	1	0	0	0	0	1	0	0	0	14319	681	24	5	140	5	SIK3	11	116717249	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2275190	116717249	18289267	349	116523											
MLL	4297	broad.mit.edu	37	chr11	118392022	118392022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcccatccatggccggGgtcttttctgtaagagaaac	11	11	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:118392022G>A	uc001pta.2	+	35	11547	c.11524G>A	c.(11524-11526)GGT>AGT	p.G3842S	MLL_uc001ptb.2_Missense_Mutation_p.G3845S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3842	SET.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCATGGCCGGGGTCTTTTCTG	0.453			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118392022	G	A	118392022	3	1	230	1	0	0	0	0	1	0	0	0	9620	1232	43	4	11662	4	MLL	11	118392022	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1674773	118392022	16614494	350	116524											
BCL9L	283149	broad.mit.edu	37	chr11	118770112	118770112	+	Frame_Shift_Del	DEL	G	G	-													gggagggcagcatggcgggcGggggctcatgggacaggggc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:118770112delG	uc001pug.2	-	8	4477	c.3512delC	c.(3511-3513)CCGfs	p.P1171fs	BCL9L_uc009zal.2_Frame_Shift_Del_p.P1166fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1171	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			ovary(1)|pancreas(1)	2	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)		CATGGCGGGCGGGGGCTCATG	0.657													-	118770112	G	-	118770112	7	5	230	1	0	1	0	1	0	0	0	0	1382	1116	39	0	991	0	BCL9L	11	118770112	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	378090	118770112	16236404	351	116525											
GRIK4	2900	broad.mit.edu	37	chr11	120837915	120837915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgcaggctcggttttcCgggacgagtttgatctggcc	13	14	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr11:120837915C>T	uc001pxn.2	+	19	2565	c.2278C>T	c.(2278-2280)CGG>TGG	p.R760W	GRIK4_uc009zaw.1_Missense_Mutation_p.R760W|GRIK4_uc009zax.1_Missense_Mutation_p.R760W	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	760	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	CTCGGTTTTCCGGGACGAGTT	0.607													T	120837915	C	T	120837915	3	4	230	1	0	0	0	0	1	0	0	0	6776	643	23	1	2344	1	GRIK4	11	120837915	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2067803	120837915	14168601	352	116526											
KDM5A	5927	broad.mit.edu	37	chr12	438150	438150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaaagacacagtggcGccttaggcgtcggtaatgat	14	7	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:438150G>A	uc001qif.1	-	14	2182	c.1819C>T	c.(1819-1821)CGC>TGC	p.R607C	KDM5A_uc001qie.1_Missense_Mutation_p.R607C|KDM5A_uc010sdn.1_Missense_Mutation_p.R566C|KDM5A_uc010sdo.1_Missense_Mutation_p.R226C	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	607					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			skin(2)|ovary(1)	3						ACACAGTGGCGCCTTAGGCGT	0.438			T 	NUP98	AML								A	438150	G	A	438150	3	1	230	1	0	0	0	0	1	0	0	0	8133	1087	38	1	3313	1	KDM5A	12	438150	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		438150	133413745	353	116527											
EFCAB4B	84766	broad.mit.edu	37	chr12	3806150	3806150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctggagactaccctccCgtcaggggcagccatcgcga	14	14	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:3806150C>T	uc001qmj.2	-	4	588	c.16G>A	c.(16-18)GGG>AGG	p.G6R	EFCAB4B_uc010sen.1_Missense_Mutation_p.G6R|EFCAB4B_uc010seo.1_Missense_Mutation_p.G6R	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	6					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			ACTACCCTCCCGTCAGGGGCA	0.567													T	3806150	C	T	3806150	3	4	230	1	0	0	0	0	1	0	0	0	4937	652	23	1	2439	1	EFCAB4B	12	3806150	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3368000	3806150	130045745	354	116528											
C12orf5	57103	broad.mit.edu	37	chr12	4460533	4460533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaccgcccggaggagagaCgctggaccaggtatgtggcg	16	11	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:4460533C>T	uc001qmp.2	+	5	450	c.371C>T	c.(370-372)ACG>ATG	p.T124M		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	124						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GGAGGAGAGACGCTGGACCAG	0.493													T	4460533	C	T	4460533	3	4	230	1	0	0	0	0	1	0	0	0	1694	536	19	1	389	1	C12orf5	12	4460533	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	654383	4460533	129391362	355	116529											
KCNA5	3741	broad.mit.edu	37	chr12	5154292	5154292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgaccccttcttcatcGtggagaccacgtgcgtcatc	10	15	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:5154292G>A	uc001qni.2	+	1	1208	c.979G>A	c.(979-981)GTG>ATG	p.V327M		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	327	Helical; Name=Segment S2; (Potential).					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CTTCTTCATCGTGGAGACCAC	0.667													A	5154292	G	A	5154292	3	1	230	1	0	0	0	0	1	0	0	0	8006	1145	40	1	981	1	KCNA5	12	5154292	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	693759	5154292	128697603	356	116530											
NCAPD2	9918	broad.mit.edu	37	chr12	6631161	6631162	+	Frame_Shift_Ins	INS	-	-	T													ccggaagattacagaggccaINSttggcatcatcagcaagatg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:6631161_6631162insT	uc001qoo.2	+	15	1958_1959	c.1912_1913insT	c.(1912-1914)ATTfs	p.I638fs	NCAPD2_uc009zen.1_Frame_Shift_Ins_p.I510fs|NCAPD2_uc010sfd.1_Frame_Shift_Ins_p.I593fs	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	638					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						TACAGAGGCCATTGGCATCATC	0.446													T	6631162	-	T	6631161	7	5	230	1	0	1	1	0	0	0	0	0	10205	217	8	0	1966	0	NCAPD2	12	6631161	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1476869	6631161	127220734	357	116531	552	2									
NCAPD2	9918	broad.mit.edu	37	chr12	6631162	6631163	+	Frame_Shift_Ins	INS	-	-	T													cggaagattacagaggccatINStggcatcatcagcaagatga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:6631161_6631162A>AT	uc001qoo.2	+	14	1958_1959	c.1912_1913A>AT	c.(1912-1914)attfs	p.I638fs	NCAPD2_uc009zen.1_Frame_Shift_Ins_p.I510fs|NCAPD2_uc010sfd.1_Frame_Shift_Ins_p.I593fs	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	638					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						TACAGAGGCCATTGGCATCATC	0.446													T	6631163	-	T	6631162	7	5	230	1	0	1	1	0	0	0	0	0	10205	1493	52	0	1967	0	NCAPD2	12	6631162	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	6631162	127220733	358	116532	552	2									
CLEC4D	338339	broad.mit.edu	37	chr12	8670815	8670815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggagtgcacaagttagaGcaccatgcaaagctcaaatg	10	9	1	1	rs138087450	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:8670815G>T	uc001qun.2	+	3	370	c.177G>T	c.(175-177)GAG>GAT	p.E59D		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	59	Extracellular (Potential).				innate immune response	integral to membrane	sugar binding				0	Lung SC(5;0.184)					ACAAGTTAGAGCACCATGCAA	0.368													T	8670815	G	T	8670815	3	4	230	1	0	0	0	0	1	0	0	0	3514	962	34	5	187	5	CLEC4D	12	8670815	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2039653	8670815	125181080	359	116533											
SOX5	6660	broad.mit.edu	37	chr12	23689453	23689453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttgtattcaccaatgCgcagctttttgccatccacc	6	14	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:23689453C>T	uc001rfw.2	-	14	2024	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	SOX5_uc001rfx.2_Missense_Mutation_p.R628H|SOX5_uc001rfy.2_Missense_Mutation_p.R520H|SOX5_uc001rfv.2_Missense_Mutation_p.R255H|SOX5_uc010siv.1_Missense_Mutation_p.R628H|SOX5_uc010siw.1_RNA	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	641					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TTCACCAATGCGCAGCTTTTT	0.517													T	23689453	C	T	23689453	3	4	230	1	0	0	0	0	1	0	0	0	14954	768	27	1	377	1	SOX5	12	23689453	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	15018638	23689453	110162442	360	116534											
MRPS35	60488	broad.mit.edu	37	chr12	27908309	27908309	+	Frame_Shift_Del	DEL	A	A	-													aaaagtctgttgttagtcttAaaaatgaggaggaaaatgaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:27908309delA	uc001rih.2	+	8	946	c.898delA	c.(898-900)AAAfs	p.K300fs	MRPS35_uc001rii.2_3'UTR	NM_021821	NP_068593	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35 precursor	300	Potential.				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)					TGTTAGTCTTAAAAATGAGGA	0.323													-	27908309	A	-	27908309	7	5	230	1	0	1	0	1	0	0	0	0	9844	363	13	0	928	0	MRPS35	12	27908309	Frame_Shift_Del	DEL	A	TCGA-D7-A4YY-01A-11D-A25D-08	4218856	27908309	105943586	361	116535											
ALG10	84920	broad.mit.edu	37	chr12	34179403	34179404	+	Frame_Shift_Ins	INS	-	-	T													tttggaaacgtagaattctgINSttttttgtggttaccttagt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:34179403_34179404insT	uc001rlm.2	+	3	1294_1295	c.975_976insT	c.(973-978)CTGTTTfs	p.L325fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	325_326	Helical; (Potential).				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			skin(1)	1	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)				GTAGAATTCTGTTTTTTGTGGT	0.322													T	34179404	-	T	34179403	7	5	230	1	0	1	1	0	0	0	0	0	511	1364	48	0	985	0	ALG10	12	34179403	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	6271094	34179403	99672492	362	116536	553	2									
ALG10	84920	broad.mit.edu	37	chr12	34179404	34179405	+	Frame_Shift_Ins	INS	-	-	T													ttggaaacgtagaattctgtINStttttgtggttaccttagtc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:34179403_34179404G>GT	uc001rlm.3	+	2	1294_1295	c.975_976G>GT	c.(973-978)ctgtttfs	p.L325fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	325					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)				GTAGAATTCTGTTTTTTGTGGT	0.322													T	34179405	-	T	34179404	7	5	230	1	0	1	1	0	0	0	0	0	511	1725	60	0	986	0	ALG10	12	34179404	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	34179404	99672491	363	116537	553	2									
ENDOU	8909	broad.mit.edu	37	chr12	48106392	48106392	+	Frame_Shift_Del	DEL	T	T	-													tggaagccagtaaccttgccTttttttacctcacctataat							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:48106392delT	uc001rpu.1	-	8	1033	c.879delA	c.(877-879)AAAfs	p.K293fs	ENDOU_uc010sll.1_Frame_Shift_Del_p.K59fs|ENDOU_uc001rpt.1_Frame_Shift_Del_p.K252fs|ENDOU_uc010slm.1_Frame_Shift_Del_p.K230fs	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	293					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						TAACCTTGCCTTTTTTTACCT	0.502													-	48106392	T	-	48106392	7	5	230	1	0	1	0	1	0	0	0	0	5116	1606	56	0	365	0	ENDOU	12	48106392	Frame_Shift_Del	DEL	T	TCGA-D7-A4YY-01A-11D-A25D-08	13926988	48106392	85745503	364	116538											
SOAT2	8435	broad.mit.edu	37	chr12	53499020	53499020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacctcccccaggttccTtgagcaggtgagtctgggga	12	15	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:53499020T>C	uc001sbv.2	+	3	356	c.268T>C	c.(268-270)TTG>CTG	p.L90L	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	90					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						CCCAGGTTCCTTGAGCAGGTG	0.572													C	53499020	T	C	53499020	2	2	230	1	0	0	0	0	0	0	0	1	14911	1606	56	3		3	SOAT2	12	53499020	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	5392628	53499020	80352875	365	116539											
NCKAP1L	3071	broad.mit.edu	37	chr12	54910752	54910752	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagactgtgttggctgaTgaaccgggactactgggtcc	15	9	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:54910752T>C	uc001sgc.3	+	11	1150	c.1071T>C	c.(1069-1071)GAT>GAC	p.D357D	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.D307D	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	357					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			ovary(3)|central_nervous_system(1)	4						TGTTGGCTGATGAACCGGGAC	0.507													C	54910752	T	C	54910752	2	2	230	1	0	0	0	0	0	0	0	1	10222	1461	51	3		3	NCKAP1L	12	54910752	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1411732	54910752	78941143	366	116540											
OR6C75	390323	broad.mit.edu	37	chr12	55759657	55759657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttacagtagctgtatcTtcatgtacattaagacttct	5	9	4	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:55759657T>G	uc010spk.1	+	1	763	c.763T>G	c.(763-765)TTC>GTC	p.F255V		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3						TAGCTGTATCTTCATGTACAT	0.408													G	55759657	T	G	55759657	3	3	230	1	0	0	0	0	1	0	0	0	11199	1609	56	5	765	5	OR6C75	12	55759657	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	848905	55759657	78092238	367	116541											
METTL7B	196410	broad.mit.edu	37	chr12	56075989	56075989	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtgctgtgctctgtgCagagcccaaggaaggtcctg	14	11	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:56075989C>T	uc010spr.1	+	1	660	c.451C>T	c.(451-453)CAG>TAG	p.Q151*		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	methyltransferase like 7B precursor	151							methyltransferase activity				0						GTGCTCTGTGCAGAGCCCAAG	0.602													T	56075989	C	T	56075989	4	4	230	1	0	0	0	0	0	1	0	0	9506	711	25	2	453	2	METTL7B	12	56075989	Nonsense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	316332	56075989	77775906	368	116542											
LRP1	4035	broad.mit.edu	37	chr12	57574523	57574523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctgacggctcgggctcCgtggtccttcggaacagcac	14	13	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:57574523C>T	uc001snd.2	+	33	5926	c.5460C>T	c.(5458-5460)TCC>TCT	p.S1820S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1820	Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTCGGGCTCCGTGGTCCTTC	0.647													T	57574523	C	T	57574523	2	4	230	1	0	0	0	0	0	0	0	1	8951	639	23	1		1	LRP1	12	57574523	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1498534	57574523	76277372	369	116543											
INHBC	3626	broad.mit.edu	37	chr12	57843601	57843601	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccactacacatagcAggcatgcctggtattgctgc	10	13	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:57843601A>C	uc001snv.1	+	2	982	c.855A>C	c.(853-855)GCA>GCC	p.A285A		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	285					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						TACACATAGCAGGCATGCCTG	0.552													C	57843601	A	C	57843601	2	2	230	1	0	0	0	0	0	0	0	1	7743	175	7	5		5	INHBC	12	57843601	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	269078	57843601	76008294	370	116544											
HELB	92797	broad.mit.edu	37	chr12	66731961	66731962	+	RNA	INS	-	-	A													taacgtcaaagtaccaagatINSaaaaaaagtttcctataact							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:66731961_66731962insA	uc010ssz.1	+	13		c.3447_3448insA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGTACCAAGATAAAAAAAGTTT	0.297													A	66731962	-	A	66731961	6	5	230	0	1	1	1	0	0	0	0	0	7045	1421	49	0		0	HELB	12	66731961	RNA	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	8888360	66731961	67119934	371	116545											
YEATS4	8089	broad.mit.edu	37	chr12	69753780	69753780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaatggccgaatttgggCctgactccggcgggagagta	16	8	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:69753780C>T	uc001sux.2	+	1	249	c.28C>T	c.(28-30)CCT>TCT	p.P10S		NM_006530	NP_006521	O95619	YETS4_HUMAN	glioma-amplified sequence-41	10					histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton				0	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CGAATTTGGGCCTGACTCCGG	0.692													T	69753780	C	T	69753780	3	4	230	1	0	0	0	0	1	0	0	0	17470	739	26	2	30	2	YEATS4	12	69753780	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3021819	69753780	64098115	372	116546											
OSBPL8	114882	broad.mit.edu	37	chr12	76784264	76784264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaggctcaacaggctcaGgttcgatatatgagtcatct	9	8	4	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:76784264G>T	uc001sye.1	-	11	1583	c.1103C>A	c.(1102-1104)CCT>CAT	p.P368H	OSBPL8_uc001syf.1_Missense_Mutation_p.P326H|OSBPL8_uc001syg.1_Missense_Mutation_p.P326H|OSBPL8_uc001syh.1_Missense_Mutation_p.P343H	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	368					lipid transport		lipid binding			ovary(1)	1						AACAGGCTCAGGTTCGATATA	0.398													T	76784264	G	T	76784264	3	4	230	1	0	0	0	0	1	0	0	0	11283	1000	35	5	1622	5	OSBPL8	12	76784264	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	7030484	76784264	57067631	373	116547											
GCN1L1	10985	broad.mit.edu	37	chr12	120612992	120612992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgctcatcttctgggctaCaacagttagttttccttccg	8	12	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:120612992C>T	uc001txo.2	-	12	1079	c.1066G>A	c.(1066-1068)GTA>ATA	p.V356I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	356					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTGGGCTACAACAGTTAGT	0.313													T	120612992	C	T	120612992	3	4	230	1	0	0	0	0	1	0	0	0	6299	478	17	4	7137	4	GCN1L1	12	120612992	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	43828728	120612992	13238903	374	116548											
KNTC1	9735	broad.mit.edu	37	chr12	123028174	123028175	+	Frame_Shift_Ins	INS	-	-	A													aatgtagacttcagtacagcINSaaaaaaggtaagaaaataaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:123028174_123028175insA	uc001ucv.2	+	7	714_715	c.551_552insA	c.(550-552)GCAfs	p.A184fs	KNTC1_uc010taf.1_Frame_Shift_Ins_p.A184fs	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	184					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		TTCAGTACAGCAAAAAAGGTAA	0.267													A	123028175	-	A	123028174	7	5	230	1	0	1	1	0	0	0	0	0	8428	710	25	0	573	0	KNTC1	12	123028174	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	2415182	123028174	10823721	375	116549											
DDX55	57696	broad.mit.edu	37	chr12	124094579	124094579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagaacctggtgagagcGggcctccggaaccctgtccg	16	12	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:124094579G>A	uc001ufi.2	+	7	669	c.645G>A	c.(643-645)GCG>GCA	p.A215A	DDX55_uc001ufh.2_Silent_p.A68A|DDX55_uc001ufj.1_Silent_p.A68A|DDX55_uc001ufk.2_Silent_p.A68A	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	215	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGGTGAGAGCGGGCCTCCGGA	0.562													A	124094579	G	A	124094579	2	1	230	1	0	0	0	0	0	0	0	1	4373	1103	39	1		1	DDX55	12	124094579	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1066405	124094579	9757316	376	116550											
DNAH10	196385	broad.mit.edu	37	chr12	124399436	124399436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccccgatgagctctccGttcagaatggcatcctcacc	7	17	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr12:124399436G>A	uc001uft.3	+	61	10283	c.10258G>A	c.(10258-10260)GTT>ATT	p.V3420I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3420	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TGAGCTCTCCGTTCAGAATGG	0.552													A	124399436	G	A	124399436	3	1	230	1	0	0	0	0	1	0	0	0	4598	1145	40	1	10500	1	DNAH10	12	124399436	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	304857	124399436	9452459	377	116551											
WASF3	10810	broad.mit.edu	37	chr13	27255387	27255388	+	Frame_Shift_Ins	INS	-	-	C													caacagacctcagcagccgcINScccccccgcctccccctcag					rs141429361		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:27255386_27255387G>GC	uc001uqv.3	+	7	1137_1138	c.912_913G>GC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678													C	27255388	-	C	27255387	7	5	230	1	0	1	1	0	0	0	0	0	17251	739	26	0	935	0	WASF3	13	27255387	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08		27255387	87914491	378	116552											
SLC7A1	6541	broad.mit.edu	37	chr13	30096482	30096482	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacccgaggctaatgtggcGattattggtgttttggtcct	13	8	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:30096482G>A	uc001uso.2	-	8	1548	c.1161C>T	c.(1159-1161)ATC>ATT	p.I387I		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	387	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTAATGTGGCGATTATTGGTG	0.453													A	30096482	G	A	30096482	2	1	230	1	0	0	0	0	0	0	0	1	14692	1048	37	1		1	SLC7A1	13	30096482	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2841095	30096482	85073396	379	116553											
PDS5B	23047	broad.mit.edu	37	chr13	33275470	33275470	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtattacagcgtgaaataaCtaagaagttgggcaacccca	9	8	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:33275470C>G	uc010abf.2	+	17	1909	c.1751C>G	c.(1750-1752)ACT>AGT	p.T584S	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	584					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		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)		CGTGAAATAACTAAGAAGTTG	0.299													G	33275470	C	G	33275470	3	3	230	1	0	0	0	0	1	0	0	0	11692	565	20	5	1813	5	PDS5B	13	33275470	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3178988	33275470	81894408	380	116554											
MAB21L1	4081	broad.mit.edu	37	chr13	36049807	36049807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggattctcagtttcacttCgctggtgtctgccaccatct	8	13	4	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:36049807C>T	uc001uvc.2	-	1	1026	c.469G>A	c.(469-471)GAA>AAA	p.E157K	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	157					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		AGTTTCACTTCGCTGGTGTCT	0.572													T	36049807	C	T	36049807	3	4	230	1	0	0	0	0	1	0	0	0	9141	893	31	1	614	1	MAB21L1	13	36049807	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2774337	36049807	79120071	381	116555											
WDFY2	115825	broad.mit.edu	37	chr13	52277737	52277737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcttttacaggagttTatattgtcagaagattataa	6	4	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:52277737T>C	uc001vfp.2	+	4	625	c.285T>C	c.(283-285)TTT>TTC	p.F95F	WDFY2_uc010ads.1_Silent_p.F95F|WDFY2_uc010adt.1_RNA	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	95	WD 2.						metal ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TACAGGAGTTTATATTGTCAG	0.308													C	52277737	T	C	52277737	2	2	230	1	0	0	0	0	0	0	0	1	17266	1751	61	3		3	WDFY2	13	52277737	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	16227930	52277737	62892141	382	116556											
ATP7B	540	broad.mit.edu	37	chr13	52539057	52539057	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgataatttccgggtcaaacTtaacaagggctttgctggtg	11	8	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:52539057T>G	uc001vfw.2	-	5	1977	c.1820A>C	c.(1819-1821)AAG>ACG	p.K607T	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.K607T|ATP7B_uc001vfy.2_Missense_Mutation_p.K496T|ATP7B_uc010tgt.1_Missense_Mutation_p.K607T|ATP7B_uc010tgu.1_Missense_Mutation_p.K607T|ATP7B_uc010tgv.1_Missense_Mutation_p.K607T|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	607	HMA 6.|Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		CGGGTCAAACTTAACAAGGGC	0.408									Wilson_disease				G	52539057	T	G	52539057	3	3	230	1	0	0	0	0	1	0	0	0	1191	1609	56	5	2645	5	ATP7B	13	52539057	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	261320	52539057	62630821	383	116557											
PCDH8	5100	broad.mit.edu	37	chr13	53422475	53422475	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcgaaggtgctgtatcGgactgttttgctctgggcca	12	11	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:53422475G>A	uc001vhi.2	-	1	300	c.97C>T	c.(97-99)CGA>TGA	p.R33*	PCDH8_uc001vhj.2_Nonsense_Mutation_p.R33*	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	33	Extracellular (Potential).|Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		GTGCTGTATCGGACTGTTTTG	0.607													A	53422475	G	A	53422475	4	1	230	1	0	0	0	0	0	1	0	0	11517	1124	39	1	3127	1	PCDH8	13	53422475	Nonsense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	883418	53422475	61747403	384	116558											
GPC5	2262	broad.mit.edu	37	chr13	92051456	92051456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggctgccggattcgccGcgggcaggtaaggggcaatg	20	9	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:92051456G>A	uc010tif.1	+	1	522	c.156G>A	c.(154-156)CCG>CCA	p.P52P		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	52						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGATTCGCCGCGGGCAGGTA	0.677													A	92051456	G	A	92051456	2	1	230	1	0	0	0	0	0	0	0	1	6601	1074	38	1		1	GPC5	13	92051456	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	38628981	92051456	23118422	385	116559											
ABCC4	10257	broad.mit.edu	37	chr13	95723915	95723915	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagatgctttaaacaaaCcttttcttgtgatttaatga	7	6	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:95723915C>T	uc001vmd.3	-	25	3329	c.3210_splice	c.e25+1	p.K1070_splice	ABCC4_uc010afk.2_Splice_Site_p.K1023_splice	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4						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			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTTAAACAAACCTTTTCTTGT	0.413													T	95723915	C	T	95723915	5	4	230	1	0	0	0	0	0	0	1	0	55	521	18	4	794	4	ABCC4	13	95723915	Splice_Site	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3672459	95723915	19445963	386	116560											
MBNL2	10150	broad.mit.edu	37	chr13	97995278	97995278	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctttaacagcccactttCcctgtaggtcccgcgatagg	8	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:97995278C>T	uc010aft.2	+	4	1164	c.348C>T	c.(346-348)TTC>TTT	p.F116F	MBNL2_uc001vmz.2_Silent_p.F116F|MBNL2_uc001vna.2_Silent_p.F116F|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	116					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AGCCCACTTTCCCTGTAGGTC	0.418													T	97995278	C	T	97995278	2	4	230	1	0	0	0	0	0	0	0	1	9354	854	30	4		4	MBNL2	13	97995278	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2271363	97995278	17174600	387	116561											
DOCK9	23348	broad.mit.edu	37	chr13	99554673	99554673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaatggttcaggtctaCgtggaaatcggcagaaatct	12	6	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr13:99554673C>T	uc001vnt.2	-	12	1307	c.1252G>A	c.(1252-1254)GTA>ATA	p.V418I	DOCK9_uc001vnw.2_Missense_Mutation_p.V417I|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.V418I|DOCK9_uc010tis.1_Missense_Mutation_p.V417I|DOCK9_uc010tit.1_Missense_Mutation_p.V418I|DOCK9_uc010afu.1_Missense_Mutation_p.V233I	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	418					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCAGGTCTACGTGGAAATCG	0.478													T	99554673	C	T	99554673	3	4	230	1	0	0	0	0	1	0	0	0	4694	536	19	1	5198	1	DOCK9	13	99554673	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1559395	99554673	15615205	388	116562											
JPH4	84502	broad.mit.edu	37	chr14	24040545	24040545	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccagggttggcgggaggaGgcaggactgctgggcagttc	20	9	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:24040545G>T	uc001wkq.2	-	6	2313	c.1395C>A	c.(1393-1395)GCC>GCA	p.A465A	JPH4_uc010tnr.1_Silent_p.A130A|JPH4_uc001wkr.2_Silent_p.A465A	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	465	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCGGGAGGAGGCAGGACTGC	0.662													T	24040545	G	T	24040545	2	4	230	1	0	0	0	0	0	0	0	1	7963	987	35	5		5	JPH4	14	24040545	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		24040545	83308995	389	116563											
PCK2	5106	broad.mit.edu	37	chr14	24572425	24572425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggtgtttgtgggcagcGccatgcgctctgagtccact	15	10	1	1	rs61737097		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:24572425G>A	uc001wlt.2	+	9	1561	c.1429G>A	c.(1429-1431)GCC>ACC	p.A477T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.A489T|PCK2_uc010tnw.1_Missense_Mutation_p.A343T|PCK2_uc010tnx.1_Missense_Mutation_p.A343T|PCK2_uc001wlu.3_Intron	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	477					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		TGTGGGCAGCGCCATGCGCTC	0.567													A	24572425	G	A	24572425	3	1	230	1	0	0	0	0	1	0	0	0	11582	1087	38	1	1555	1	PCK2	14	24572425	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	531880	24572425	82777115	390	116564											
REC8	9985	broad.mit.edu	37	chr14	24646359	24646359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctggacagggtgaacggGagctcccagaggtcagccgc	15	12	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:24646359G>A	uc001wmr.2	+	9	1061	c.634G>A	c.(634-636)GAG>AAG	p.E212K	REC8_uc001wms.2_Missense_Mutation_p.E212K	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	212	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		GGGTGAACGGGAGCTCCCAGA	0.557													A	24646359	G	A	24646359	3	1	230	1	0	0	0	0	1	0	0	0	13199	1175	41	4	664	4	REC8	14	24646359	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	73934	24646359	82703181	391	116565											
FRMD6	122786	broad.mit.edu	37	chr14	52174877	52174877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttgcactaacagcttccGaagctcatcttaaatatatc	5	10	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:52174877G>A	uc001wzd.2	+	7	925	c.640G>A	c.(640-642)GAA>AAA	p.E214K	FRMD6_uc001wzb.2_Missense_Mutation_p.E206K|FRMD6_uc001wzc.2_Missense_Mutation_p.E206K|FRMD6_uc001wze.2_Missense_Mutation_p.E137K	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	214	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					AACAGCTTCCGAAGCTCATCT	0.438													A	52174877	G	A	52174877	3	1	230	1	0	0	0	0	1	0	0	0	6054	1059	37	1	638	1	FRMD6	14	52174877	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	27528518	52174877	55174663	392	116566											
KTN1	3895	broad.mit.edu	37	chr14	56146293	56146295	+	In_Frame_Del	DEL	AGA	AGA	-													ttctttttaggagtcttctgAgaaggagacaatgtctgtaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:56146293_56146295delAGA	uc001xcb.2	+	44	4261_4263	c.3959_3961delAGA	c.(3958-3963)GAGAAG>GAG	p.K1321del	KTN1_uc001xce.2_In_Frame_Del_p.K1264del|KTN1_uc001xcc.2_In_Frame_Del_p.K1321del|KTN1_uc001xcd.2_In_Frame_Del_p.K1270del|KTN1_uc010trb.1_In_Frame_Del_p.K1293del|KTN1_uc001xcf.1_In_Frame_Del_p.K1270del|KTN1_uc010aoq.2_In_Frame_Del_p.K559del|KTN1_uc010trc.1_In_Frame_Del_p.K298del|KTN1_uc001xcg.2_In_Frame_Del_p.K254del	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	1321	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						GAGTCTTCTGAGAAGGAGACAAT	0.374			T	RET	papillary thryoid								-	56146295	AGA	-	56146293	7	5	230	1	0	1	0	1	0	0	0	0	8585	304	11	0	4125	0	KTN1	14	56146293	In_Frame_Del	DEL	AGA	TCGA-D7-A4YY-01A-11D-A25D-08	3971416	56146293	51203247	393	116567											
PELI2	57161	broad.mit.edu	37	chr14	56757067	56757067	+	Frame_Shift_Del	DEL	G	G	-													tcctggtgatgcatccacgaGggggcttcaccgaggagtcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:56757066_56757066AG>A	uc001xch.3	+	4	874	c.588_588AG>A	c.(586-588)cgafs	p.R196fs		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	196					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|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						TGCATCCACGAGGGGGCTTCA	0.587													-	56757067	G	-	56757067	7	5	230	1	0	1	0	1	0	0	0	0	11722	1000	35	0	607	0	PELI2	14	56757067	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	610774	56757067	50592473	394	116568											
RTN1	6252	broad.mit.edu	37	chr14	60337173	60337173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccggcttcccgcgacGccgcttcccgggccctggcg	14	20	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:60337173G>A	uc001xen.1	-	1	385	c.176C>T	c.(175-177)GCG>GTG	p.A59V		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	59					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCCCGCGACGCCGCTTCCCG	0.756													A	60337173	G	A	60337173	3	1	230	1	0	0	0	0	1	0	0	0	13725	1087	38	1	2255	1	RTN1	14	60337173	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	3580106	60337173	47012367	395	116569											
HSPA2	3306	broad.mit.edu	37	chr14	65009232	65009232	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctacaacatcaagcagacGgtggaagacgagaaactgag	11	9	1	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:65009232G>T	uc001xhj.2	+	2	1741	c.1665G>T	c.(1663-1665)ACG>ACT	p.T555T	HSPA2_uc001xhk.3_Silent_p.T555T	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	555					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCAAGCAGACGGTGGAAGACG	0.542													T	65009232	G	T	65009232	2	4	230	1	0	0	0	0	0	0	0	1	7411	1103	39	5		5	HSPA2	14	65009232	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4672059	65009232	42340308	396	116570											
VSX2	338917	broad.mit.edu	37	chr14	74706508	74706508	+	Frame_Shift_Del	DEL	G	G	-													gcatggggcttctggggcccGgggggctccctggcttctac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:74706508delG	uc001xpq.2	+	1	334	c.244delG	c.(244-246)GGGfs	p.G82fs		NM_182894	NP_878314	P58304	VSX2_HUMAN	visual system homeobox 2	82	Pro-rich.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TCTGGGGCCCGGGGGGCTCCC	0.741													-	74706508	G	-	74706508	7	5	230	1	0	1	0	1	0	0	0	0	17229	1116	39	0	246	0	VSX2	14	74706508	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	9697276	74706508	32643032	397	116571											
ADCK1	57143	broad.mit.edu	37	chr14	78325429	78325429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaggtgcaccttcGctctgccaggcgtctctgtg	11	15	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:78325429G>A	uc001xui.2	+	4	329	c.230G>A	c.(229-231)CGC>CAC	p.R77H	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	84						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GTGCACCTTCGCTCTGCCAGG	0.597													A	78325429	G	A	78325429	3	1	230	1	0	0	0	0	1	0	0	0	288	1087	38	1	240	1	ADCK1	14	78325429	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	3618921	78325429	29024111	398	116572											
SLC24A4	123041	broad.mit.edu	37	chr14	92913724	92913724	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctctttgaggtgggaaggCctggtgctcatcatcttgta	12	9	4	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:92913724C>G	uc001yak.2	+	9	666	c.642C>G	c.(640-642)GGC>GGG	p.G214G	SLC24A4_uc001yai.2_Silent_p.G167G|SLC24A4_uc010twm.1_Silent_p.G231G|SLC24A4_uc001yaj.2_Silent_p.G214G|SLC24A4_uc010auj.2_Silent_p.G122G|SLC24A4_uc010twn.1_5'UTR	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	231	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		GGTGGGAAGGCCTGGTGCTCA	0.582													G	92913724	C	G	92913724	2	3	230	1	0	0	0	0	0	0	0	1	14468	726	26	5		5	SLC24A4	14	92913724	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	14588295	92913724	14435816	399	116573											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551151	102551151	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcttgatcgatgtacTtttccttaatcttcttcttc	4	11	5	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:102551151T>G	uc001yku.3	-	5	1038	c.848A>C	c.(847-849)AAG>ACG	p.K283T	HSP90AA1_uc001ykv.3_Missense_Mutation_p.K405T|HSP90AA1_uc001ykw.1_Missense_Mutation_p.K104T|HSP90AA1_uc001ykx.1_Missense_Mutation_p.K272T	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	283					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			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ATCGATGTActtttccttaat	0.279													G	102551151	T	G	102551151	3	3	230	1	0	0	0	0	1	0	0	0	7401	1609	56	5	1378	5	HSP90AA1	14	102551151	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	9637427	102551151	4798389	400	116574											
TDRD9	122402	broad.mit.edu	37	chr14	104518407	104518407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccacaaactggttgtGctcggcacctgagcatgtcc	10	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:104518407G>A	uc001yom.3	+	36	4167	c.4137G>A	c.(4135-4137)GTG>GTA	p.V1379V	TDRD9_uc001yon.3_Silent_p.V926V	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1379					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AACTGGTTGTGCTCGGCACCT	0.577													A	104518407	G	A	104518407	2	1	230	1	0	0	0	0	0	0	0	1	15733	1306	46	2		2	TDRD9	14	104518407	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1967256	104518407	2831133	401	116575											
KIF26A	26153	broad.mit.edu	37	chr14	104639558	104639558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgtacctgcgggaggaCcccgtgtgtggggcgcaggt	20	9	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:104639558C>A	uc001yos.3	+	8	1665	c.1665C>A	c.(1663-1665)GAC>GAA	p.D555E		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	555	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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCGGGAGGACCCCGTGTGTG	0.711													A	104639558	C	A	104639558	3	1	230	1	0	0	0	0	1	0	0	0	8294	506	18	5	1695	5	KIF26A	14	104639558	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	121151	104639558	2709982	402	116576											
KIAA0284	283638	broad.mit.edu	37	chr14	105346656	105346656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccagctgcaggtgagCgtgaagggtttggcgcccaa	15	11	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:105346656C>T	uc010axb.2	+	6	590	c.366C>T	c.(364-366)AGC>AGT	p.S122S	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.S52S|KIAA0284_uc001yps.2_Silent_p.S28S	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	122						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TGCAGGTGAGCGTGAAGGGTT	0.662													T	105346656	C	T	105346656	2	4	230	1	0	0	0	0	0	0	0	1	8166	767	27	1		1	KIAA0284	14	105346656	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	707098	105346656	2002884	403	116577											
AHNAK2	113146	broad.mit.edu	37	chr14	105419697	105419697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcgcagacacatccacCgaggcctccatggacttgcc	10	16	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:105419697C>T	uc010axc.1	-	7	2211	c.2091G>A	c.(2089-2091)TCG>TCA	p.S697S	AHNAK2_uc001ypx.2_Silent_p.S597S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	697						nucleus				ovary(1)	1		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)			ACACATCCACCGAGGCCTCCA	0.597													T	105419697	C	T	105419697	2	4	230	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105419697	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	73041	105419697	1929843	404	116578											
GPR132	29933	broad.mit.edu	37	chr14	105517684	105517684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaggcagcggctttgaCgaggagaaccaggtggtacg	17	7	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr14:105517684C>T	uc001yqd.2	-	4	1689	c.790G>A	c.(790-792)GTC>ATC	p.V264I	GPR132_uc001yqc.2_Missense_Mutation_p.V76I|GPR132_uc001yqe.2_Missense_Mutation_p.V255I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	264	Helical; Name=6; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		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)		GCGGCTTTGACGAGGAGAACC	0.582													T	105517684	C	T	105517684	3	4	230	1	0	0	0	0	1	0	0	0	6642	536	19	1	356	1	GPR132	14	105517684	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	97987	105517684	1831856	405	116579											
APBA2	321	broad.mit.edu	37	chr15	29406136	29406136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgtccgtgtgggccacCgcatcatcgagatcaacggg	16	12	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:29406136C>T	uc001zck.2	+	13	2302	c.2095C>T	c.(2095-2097)CGC>TGC	p.R699C	APBA2_uc010uat.1_Missense_Mutation_p.R687C|APBA2_uc001zcl.2_Missense_Mutation_p.R687C	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	699	PDZ 2.				nervous system development|protein transport		protein binding				0		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)		TGTGGGCCACCGCATCATCGA	0.607													T	29406136	C	T	29406136	3	4	230	1	0	0	0	0	1	0	0	0	757	652	23	1	2137	1	APBA2	15	29406136	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08		29406136	73125256	406	116580											
EIF2AK4	440275	broad.mit.edu	37	chr15	40259735	40259735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccctgtgcatcagcttcGcaggtacacagctcagctcc	8	16	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:40259735G>A	uc001zkm.1	+	9	1258	c.1208G>A	c.(1207-1209)CGC>CAC	p.R403H	EIF2AK4_uc001zkl.2_Missense_Mutation_p.R403H|EIF2AK4_uc010bbj.1_Missense_Mutation_p.R132H	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	403	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		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)		CATCAGCTTCGCAGGTACACA	0.527													A	40259735	G	A	40259735	3	1	230	1	0	0	0	0	1	0	0	0	4999	1087	38	1	1242	1	EIF2AK4	15	40259735	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	10853599	40259735	62271657	407	116581											
MGA	23269	broad.mit.edu	37	chr15	41961969	41961969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttctggtcatcgggtcCgtcttacagaaggtcagggg	14	9	5	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:41961969C>A	uc001zog.1	+	2	968	c.877C>A	c.(877-879)CGT>AGT	p.R293S	MGA_uc010ucy.1_Missense_Mutation_p.R293S|MGA_uc010ucz.1_Missense_Mutation_p.R293S	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	293						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R293H(1)		ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		TCATCGGGTCCGTCTTACAGA	0.463													A	41961969	C	A	41961969	3	1	230	1	0	0	0	0	1	0	0	0	9540	652	23	5	879	5	MGA	15	41961969	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1702234	41961969	60569423	408	116582											
MAP1A	4130	broad.mit.edu	37	chr15	43815307	43815307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgaggagagggctttgCtggctgaacaaagggacaca	16	7	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:43815307C>T	uc001zrt.2	+	4	2103	c.1636C>T	c.(1636-1638)CTG>TTG	p.L546L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	546						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	GAGGGCTTTGCTGGCTGAACA	0.562													T	43815307	C	T	43815307	2	4	230	1	0	0	0	0	0	0	0	1	9227	796	28	2		2	MAP1A	15	43815307	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1853338	43815307	58716085	409	116583											
UNC13C	440279	broad.mit.edu	37	chr15	54307469	54307469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcattgacctttctgataAgactttcagcttcccaaaat	5	10	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:54307469A>C	uc002ack.2	+	1	2369	c.2369A>C	c.(2368-2370)AAG>ACG	p.K790T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	790					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTTCTGATAAGACTTTCAGC	0.428													C	54307469	A	C	54307469	3	2	230	1	0	0	0	0	1	0	0	0	16983	72	3	5	2371	5	UNC13C	15	54307469	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	10492162	54307469	48223923	410	116584											
UNC13C	440279	broad.mit.edu	37	chr15	54529879	54529879	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggacatccctaaataaTgaggaactggtaagtactag	9	6	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:54529879T>C	uc002ack.2	+	5	3219	c.3219T>C	c.(3217-3219)AAT>AAC	p.N1073N		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1073					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCCTAAATAATGAGGAACTGG	0.393													C	54529879	T	C	54529879	2	2	230	1	0	0	0	0	0	0	0	1	16983	1461	51	3		3	UNC13C	15	54529879	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	222410	54529879	48001513	411	116585											
RORA	6095	broad.mit.edu	37	chr15	61521385	61521385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctggctcgctggcGgcggggtcgggggctgccgg	21	13	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:61521385G>A	uc002agx.2	-	1	118	c.33C>T	c.(31-33)GCC>GCT	p.A11A		NM_134261	NP_599023	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform a	Error:Variant_position_missing_in_P35398_after_alignment					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			large_intestine(1)|ovary(1)	2						GCTCGCTGGCGGCGGGGTCGG	0.677													A	61521385	G	A	61521385	2	1	230	1	0	0	0	0	0	0	0	1	13528	1103	39	1		1	RORA	15	61521385	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6991506	61521385	41010007	412	116586											
C15orf27	123591	broad.mit.edu	37	chr15	76484307	76484307	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcccgtctccctccgcAgtttgagatccggcagctgc	10	17	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:76484307A>C	uc002bbq.2	+	9	924	c.769_splice	c.e9-2	p.F257_splice	C15orf27_uc010bkp.2_Splice_Site_p.F73_splice|C15orf27_uc002bbr.2_Splice_Site_p.F73_splice|C15orf27_uc002bbs.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591							integral to membrane					0						CTCCCTCCGCAGTTTGAGATC	0.736													C	76484307	A	C	76484307	5	2	230	1	0	0	0	0	0	0	1	0	1788	202	7	5	797	5	C15orf27	15	76484307	Splice_Site	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	14962922	76484307	26047085	413	116587											
SGK269	79834	broad.mit.edu	37	chr15	77407583	77407583	+	Missense_Mutation	SNP	T	T	A													accacagtcctgctgaatgtTaaaatggacagccagactct							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:77407583T>A	uc002bcm.2	-	6	4464	c.4156A>T	c.(4156-4158)AAC>TAC	p.N1386Y		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1386	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TGCTGAATGTTAAAATGGACA	0.453													A	77407583	T	A	77407583	3	1	230	1	0	0	0	0	1	0	0	0	14211	1754	61	5	1088	5	SGK269	15	77407583	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	923276	77407583	25123809	414	116588	554	2									
SGK269	79834	broad.mit.edu	37	chr15	77407588	77407588	+	Missense_Mutation	SNP	T	T	A													agtcctgctgaatgttaaaaTggacagccagactctgccgg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:77407588T>A	uc002bcm.2	-	6	4459	c.4151A>T	c.(4150-4152)CAT>CTT	p.H1384L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1384	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		AATGTTAAAATGGACAGCCAG	0.448													A	77407588	T	A	77407588	3	1	230	1	0	0	0	0	1	0	0	0	14211	1464	51	5	1093	5	SGK269	15	77407588	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	5	77407588	25123804	415	116589	554	2									
PSMA4	5685	broad.mit.edu	37	chr15	78834913	78834913	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgatggtgttttgctTgcagcagagagacgcaacat	12	7	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:78834913T>C	uc002bdu.3	+	4	293	c.135T>C	c.(133-135)CTT>CTC	p.L45L	PSMA4_uc010blf.2_Silent_p.L45L|PSMA4_uc002bdv.3_Intron|PSMA4_uc002bdw.3_Silent_p.L21L|PSMA4_uc002bdx.3_Intron	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	45					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	identical protein binding|threonine-type endopeptidase activity				0						GTGTTTTGCTTGCAGCAGAGA	0.368													C	78834913	T	C	78834913	2	2	230	1	0	0	0	0	0	0	0	1	12669	1799	63	3		3	PSMA4	15	78834913	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1427325	78834913	23696479	416	116590											
KIAA1024	23251	broad.mit.edu	37	chr15	79750766	79750766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaggagataataaagaCtggcatcggaaatctaaaga	11	7	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:79750766C>T	uc002bew.1	+	2	2352	c.2277C>T	c.(2275-2277)GAC>GAT	p.D759D	KIAA1024_uc010unk.1_Silent_p.D759D	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	759						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						ATAATAAAGACTGGCATCGGA	0.463													T	79750766	C	T	79750766	2	4	230	1	0	0	0	0	0	0	0	1	8205	564	20	4		4	KIAA1024	15	79750766	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	915853	79750766	22780626	417	116591											
AP3B2	8120	broad.mit.edu	37	chr15	83349359	83349359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggggtttggtgttgCgcagcagcagccggtggtcg	19	9	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:83349359C>T	uc010uoh.1	-	8	1097	c.920G>A	c.(919-921)CGC>CAC	p.R307H	AP3B2_uc010uoi.1_Missense_Mutation_p.R307H|AP3B2_uc010uoj.1_Missense_Mutation_p.R275H|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	307					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTGGTGTTGCGCAGCAGCAG	0.711													T	83349359	C	T	83349359	3	4	230	1	0	0	0	0	1	0	0	0	745	768	27	1	2328	1	AP3B2	15	83349359	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3598593	83349359	19182033	418	116592											
IGF1R	3480	broad.mit.edu	37	chr15	99467876	99467876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctctgggaatgggtcGtggacagatcctgtgttctt	12	9	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:99467876G>A	uc002bul.2	+	13	2795	c.2745G>A	c.(2743-2745)TCG>TCA	p.S915S	IGF1R_uc010bon.2_Silent_p.S915S|IGF1R_uc010boo.1_RNA	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	915	Extracellular (Potential).|Fibronectin type-III 3.				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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	GGAATGGGTCGTGGACAGATC	0.527													A	99467876	G	A	99467876	2	1	230	1	0	0	0	0	0	0	0	1	7571	1132	40	1		1	IGF1R	15	99467876	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	16118517	99467876	3063516	419	116593											
SYNM	23336	broad.mit.edu	37	chr15	99670283	99670284	+	Frame_Shift_Ins	INS	-	-	GA													ccgaaggagaagagcgtgcgINSagagagagaggtgccgatta							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:99670282_99670283C>CGA	uc002bup.3	+	4	1834_1835	c.1714_1715C>CGA	c.(1714-1716)cgafs	p.R572fs	SYNM_uc002buo.3_Frame_Shift_Ins_p.R572fs|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	573	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						GAAGAGCGTGCGAGAGAGAGAG	0.52													GA	99670284	-	GA	99670283	7	5	230	1	0	1	1	0	0	0	0	0	15452	1058	37	0	1731	0	SYNM	15	99670283	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	202407	99670283	2861109	420	116594											
OR4F6	390648	broad.mit.edu	37	chr15	102346035	102346035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgttctatgtgtcaaGcctgatgggaaatctcctca	9	10	5	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr15:102346035G>A	uc010utr.1	+	1	113	c.113G>A	c.(112-114)AGC>AAC	p.S38N		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATGTGTCAAGCCTGATGGGA	0.488													A	102346035	G	A	102346035	3	1	230	1	0	0	0	0	1	0	0	0	11066	971	34	2	115	2	OR4F6	15	102346035	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2675752	102346035	185357	421	116595											
RAB40C	57799	broad.mit.edu	37	chr16	676060	676060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcatcgagtccttcacGgagctatcccgcatcgtgct	9	14	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:676060G>A	uc002chr.2	+	5	620	c.504G>A	c.(502-504)ACG>ACA	p.T168T	RAB40C_uc002chq.2_Silent_p.T149T	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	168					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				AGTCCTTCACGGAGCTATCCC	0.642													A	676060	G	A	676060	2	1	230	1	0	0	0	0	0	0	0	1	12942	1103	39	1		1	RAB40C	16	676060	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		676060	89678693	422	116596											
CACNA1H	8912	broad.mit.edu	37	chr16	1248668	1248668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccatgctcgggaacGtccttctgctgtgcttcttc	10	15	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:1248668G>A	uc002cks.2	+	6	945	c.697G>A	c.(697-699)GTC>ATC	p.V233I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V233I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	233	Helical; Name=S5 of repeat I; (Potential).|I.				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	gctcgggaacgtccttctGCT	0.453													A	1248668	G	A	1248668	3	1	230	1	0	0	0	0	1	0	0	0	2545	1145	40	1	715	1	CACNA1H	16	1248668	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	572608	1248668	89106085	423	116597											
CACNA1H	8912	broad.mit.edu	37	chr16	1252244	1252244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatgccgcagccactgcCgctgccagcctcagactggc	11	18	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:1252244C>T	uc002cks.2	+	9	2042	c.1794C>T	c.(1792-1794)GCC>GCT	p.A598A	CACNA1H_uc002ckt.2_Silent_p.A598A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	598	Cytoplasmic (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CAGCCACTGCCGCTGCCAGCC	0.687													T	1252244	C	T	1252244	2	4	230	1	0	0	0	0	0	0	0	1	2545	639	23	1		1	CACNA1H	16	1252244	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3576	1252244	89102509	424	116598											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1814167	1814167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaagaacgtgccggtgCcggtgtactgccgccctctg	15	12	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:1814167C>T	uc002cmk.2	+	18	2194	c.2074C>T	c.(2074-2076)CCG>TCG	p.P692S	MAPK8IP3_uc002cml.2_Missense_Mutation_p.P686S|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.P693S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	692					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CGTGCCGGTGCCGGTGTACTG	0.701													T	1814167	C	T	1814167	3	4	230	1	0	0	0	0	1	0	0	0	9286	739	26	2	2160	2	MAPK8IP3	16	1814167	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	561923	1814167	88540586	425	116599											
PKD1	5310	broad.mit.edu	37	chr16	2156158	2156158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggcccacctcgaagTgtggcctgaaacccgggggc	15	15	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:2156158T>C	uc002cos.1	-	19	7846	c.7637A>G	c.(7636-7638)CAC>CGC	p.H2546R	PKD1_uc002cot.1_Missense_Mutation_p.H2546R|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2546	Extracellular (Potential).|REJ.		H -> Y (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CACCTCGAAGTGTGGCCTGAA	0.697													C	2156158	T	C	2156158	3	2	230	1	0	0	0	0	1	0	0	0	11963	1696	59	3	5386	3	PKD1	16	2156158	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	341991	2156158	88198595	426	116600											
CLDN9	9080	broad.mit.edu	37	chr16	3063918	3063919	+	Frame_Shift_Ins	INS	-	-	C													ggctcctctgctgcacgtgcINScccccgccccaggtcgagcg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:3063917_3063918G>GC	uc010uwo.1	+	0	1461_1462	c.554_555G>GC	c.(553-555)tgcfs	p.C185fs		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	185					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.T184M(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGCTGCACGTGCCCCCCGCCCC	0.718													C	3063919	-	C	3063918	7	5	230	1	0	1	1	0	0	0	0	0	3492	747	26	0	557	0	CLDN9	16	3063918	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	907760	3063918	87290835	427	116601											
DNAJA3	9093	broad.mit.edu	37	chr16	4492271	4492271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttggtttctttagtaCttcatggagttgacattcaa	8	8	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:4492271C>T	uc002cwk.2	+	5	658	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	DNAJA3_uc002cwl.2_Silent_p.Y211Y|DNAJA3_uc010uxk.1_Silent_p.Y58Y	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	211					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						TTCTTTAGTACTTCATGGAGT	0.498													T	4492271	C	T	4492271	2	4	230	1	0	0	0	0	0	0	0	1	4613	576	20	4		4	DNAJA3	16	4492271	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1428353	4492271	85862482	428	116602											
C16orf68	79091	broad.mit.edu	37	chr16	8722866	8722866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgattccaacccagcagGgcctctgagagacaaggtac	10	13	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:8722866G>T	uc002cyz.2	+	3	689	c.413G>T	c.(412-414)GGG>GTG	p.G138V	C16orf68_uc002cza.2_Intron	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	138							methyltransferase activity				0						AACCCAGCAGGGCCTCTGAGA	0.557													T	8722866	G	T	8722866	3	4	230	1	0	0	0	0	1	0	0	0	1827	1232	43	5	419	5	C16orf68	16	8722866	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4230595	8722866	81631887	429	116603											
NOMO3	408050	broad.mit.edu	37	chr16	16357002	16357002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttcctcttactgtgacCgacaggcctgtgatggatgt	10	10	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:16357002C>T	uc002deq.2	+	13	1602	c.1467C>T	c.(1465-1467)ACC>ACT	p.T489T	NOMO3_uc002dep.2_Silent_p.T489T|NOMO3_uc010bvp.1_Silent_p.T322T	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	nodal modulator 3 precursor	489	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TTACTGTGACCGACAGGCCTG	0.488													T	16357002	C	T	16357002	2	4	230	1	0	0	0	0	0	0	0	1	10533	639	23	1		1	NOMO3	16	16357002	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	7634136	16357002	73997751	430	116604											
XYLT1	64131	broad.mit.edu	37	chr16	17564358	17564358	+	Frame_Shift_Del	DEL	C	C	-													gcggttctccggggccgcctCcccgcgcccgcgcctggggc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:17564358delC	uc002dfa.2	-	1	381	c.296delG	c.(295-297)GGAfs	p.G99fs		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	99	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						ggggccgcctccccgcgcccg	0.448													-	17564358	C	-	17564358	7	5	230	1	0	1	0	1	0	0	0	0	17460	855	30	0	2631	0	XYLT1	16	17564358	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	1207356	17564358	72790395	431	116605											
DNAH3	55567	broad.mit.edu	37	chr16	20996456	20996456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaaccttctctccttgGgtcctggctgcagtctgcat	8	14	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:20996456G>A	uc010vbe.1	-	48	7608	c.7608C>T	c.(7606-7608)ACC>ACT	p.T2536T	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2536	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCTCTCCTTGGGTCCTGGCTG	0.463													A	20996456	G	A	20996456	2	1	230	1	0	0	0	0	0	0	0	1	4603	1219	43	4		4	DNAH3	16	20996456	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	3432098	20996456	69358297	432	116606											
MVP	9961	broad.mit.edu	37	chr16	29857217	29857217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactggagcaggaagcccgCggccggcttgagcggcagaa	17	11	0	3	rs149725123		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:29857217C>T	uc002dui.2	+	12	2139	c.2055C>T	c.(2053-2055)CGC>CGT	p.R685R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Silent_p.R685R|MVP_uc010vea.1_Silent_p.R279R	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	685					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGGAAGCCCGCGGCCGGCTTG	0.622													T	29857217	C	T	29857217	2	4	230	1	0	0	0	0	0	0	0	1	9996	755	27	1		1	MVP	16	29857217	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	8860761	29857217	60497536	433	116607											
NLRC5	84166	broad.mit.edu	37	chr16	57057705	57057705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttttcaggcctgaagCgcccacatcagagctgtggg	12	11	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:57057705C>T	uc002ekk.1	+	5	589	c.364C>T	c.(364-366)CGC>TGC	p.R122C	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_5'Flank|NLRC5_uc002ekl.2_5'Flank|NLRC5_uc002ekm.2_5'Flank|NLRC5_uc010ccr.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	122					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				AGGCCTGAAGCGCCCACATCA	0.587													T	57057705	C	T	57057705	3	4	230	1	0	0	0	0	1	0	0	0	10470	768	27	1	374	1	NLRC5	16	57057705	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	27200488	57057705	33297048	434	116608											
NOL3	8996	broad.mit.edu	37	chr16	67208556	67208556	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctatgaccctccatgcCcaggccactggacgccggag	12	16	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:67208556C>A	uc010vjd.1	+	3	511	c.504C>A	c.(502-504)GCC>GCA	p.A168A	NOL3_uc010vjc.1_Missense_Mutation_p.P172T|NOL3_uc002erp.2_Missense_Mutation_p.P110T			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	106					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCCTCCATGCCCAGGCCACTG	0.667													A	67208556	C	A	67208556	2	1	230	1	0	0	0	0	0	0	0	1	10523	623	22	5		5	NOL3	16	67208556	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	10150851	67208556	23146197	435	116609											
CNTNAP4	85445	broad.mit.edu	37	chr16	76483708	76483708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atctctattataatggagtgGatatcattgatttggccaag	9	5	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:76483708G>T	uc002feu.1	+	9	1409	c.1024G>T	c.(1024-1026)GAT>TAT	p.D342Y	CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002fex.1_Missense_Mutation_p.D345Y|CNTNAP4_uc002few.2_Missense_Mutation_p.D317Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	342	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TAATGGAGTGGATATCATTGA	0.363													T	76483708	G	T	76483708	3	4	230	1	0	0	0	0	1	0	0	0	3649	1174	41	5	1063	5	CNTNAP4	16	76483708	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	9275152	76483708	13871045	436	116610											
CBFA2T3	863	broad.mit.edu	37	chr16	88951490	88951490	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctcgtagctcccgggggtCtgggtggcggtaggcatctc	16	12	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr16:88951490C>T	uc002fmm.1	-	7	1267	c.1081G>A	c.(1081-1083)GAC>AAC	p.D361N	CBFA2T3_uc002fml.1_Missense_Mutation_p.D275N|CBFA2T3_uc010cif.1_Missense_Mutation_p.D300N|CBFA2T3_uc002fmn.1_Missense_Mutation_p.D336N	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	361	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCCCGGGGGTCTGGGTGGCGG	0.697			T	RUNX1	AML								T	88951490	C	T	88951490	3	4	230	1	0	0	0	0	1	0	0	0	2698	913	32	4	904	4	CBFA2T3	16	88951490	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	12467782	88951490	1403263	437	116611											
RPH3AL	9501	broad.mit.edu	37	chr17	96929	96929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcccacgtgtagatgcGgctggtctcagagcttctgg	15	11	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:96929G>A	uc002frd.1	-	5	630	c.586C>T	c.(586-588)CGC>TGC	p.R196C	RPH3AL_uc010vpy.1_Missense_Mutation_p.R196C|RPH3AL_uc002fre.1_Missense_Mutation_p.R196C|RPH3AL_uc002frf.1_Missense_Mutation_p.R167C|RPH3AL_uc010cjl.1_Missense_Mutation_p.R167C	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	196					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				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)		GTGTAGATGCGGCTGGTCTCA	0.612													A	96929	G	A	96929	3	1	230	1	0	0	0	0	1	0	0	0	13552	1116	39	1	377	1	RPH3AL	17	96929	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		96929	81098281	438	116612											
SERPINF2	5345	broad.mit.edu	37	chr17	1657784	1657785	+	Frame_Shift_Ins	INS	-	-	C													ccctgacttaaaacttgtgcINScccccatggaggaggattac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:1657783_1657784G>GC	uc002ftk.1	+	9	1508_1509	c.1431_1432G>GC	c.(1429-1434)gtgcccfs	p.V477fs	SERPINF2_uc010vqr.1_Frame_Shift_Ins_p.V413fs|SERPINF2_uc021tnm.1_Frame_Shift_Ins_p.V477fs	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	477					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)	TAAAACTTGTGCCCCCCATGGA	0.599													C	1657785	-	C	1657784	7	5	230	1	0	1	1	0	0	0	0	0	14115	739	26	0	1476	0	SERPINF2	17	1657784	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1560855	1657784	79537426	439	116613											
MYBBP1A	10514	broad.mit.edu	37	chr17	4451274	4451276	+	In_Frame_Del	DEL	GAG	GAG	-													ttgaggaggtggatgcccacGaggagcagaaggtgctggaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:4451274_4451276delGAG	uc002fyb.3	-	13	1863_1865	c.1801_1803delCTC	c.(1801-1803)CTCdel	p.L601del	MYBBP1A_uc002fxz.3_In_Frame_Del_p.L601del	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	601				L -> F (in Ref. 1; AAF33021).	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			ovary(1)|skin(1)	2						GGATGCCCACGAGGAGCAGAAGG	0.645													-	4451276	GAG	-	4451274	7	5	230	1	0	1	0	1	0	0	0	0	10008	1045	37	0	2279	0	MYBBP1A	17	4451274	In_Frame_Del	DEL	GAG	TCGA-D7-A4YY-01A-11D-A25D-08	2793490	4451274	76743936	440	116614											
ZBTB4	57659	broad.mit.edu	37	chr17	7365532	7365532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggggccatagacgagCgggtagggctcagggtagaa	19	7	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:7365532C>T	uc002ghc.3	-	4	3019	c.2769G>A	c.(2767-2769)CCG>CCA	p.P923P	ZBTB4_uc002ghd.3_Silent_p.P923P	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	923					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CATAGACGAGCGGGTAGGGCT	0.602													T	7365532	C	T	7365532	2	4	230	1	0	0	0	0	0	0	0	1	17538	755	27	1		1	ZBTB4	17	7365532	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2914258	7365532	73829678	441	116615											
CHD3	1107	broad.mit.edu	37	chr17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-													atggaaatccagatgtcccaCccccccgtcctcttcaaggc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	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)				CAGATGTCCCACCCCCCCGTC	0.577													-	7798765	C	-	7798765	7	5	230	1	0	1	0	1	0	0	0	0	3326	507	18	0	1931	0	CHD3	17	7798765	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	433233	7798765	73396445	442	116616											
ARHGEF15	22899	broad.mit.edu	37	chr17	8222199	8222199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcctgctgctctttagCgacctgctgctcatcactca	7	15	4	0	rs142705439	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:8222199C>T	uc002glc.2	+	12	2125	c.2004C>T	c.(2002-2004)AGC>AGT	p.S668S	ARHGEF15_uc002gld.2_Silent_p.S668S|ARHGEF15_uc010vuw.1_Silent_p.S557S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	668					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TGCTCTTTAGCGACCTGCTGC	0.637													T	8222199	C	T	8222199	2	4	230	1	0	0	0	0	0	0	0	1	898	767	27	1		1	ARHGEF15	17	8222199	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	423434	8222199	72973011	443	116617											
MYH8	4626	broad.mit.edu	37	chr17	10317533	10317533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccatcaactcttcttgGtcatcaatactgggaactgt	9	10	5	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:10317533G>A	uc002gmm.2	-	11	1079	c.984C>T	c.(982-984)GAC>GAT	p.D328D	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	328	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			skin(6)|ovary(3)|breast(2)	11						ACTCTTCTTGGTCATCAATAC	0.423									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10317533	G	A	10317533	2	1	230	1	0	0	0	0	0	0	0	1	10041	1252	44	4		4	MYH8	17	10317533	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2095334	10317533	70877677	444	116618											
DNAH9	1770	broad.mit.edu	37	chr17	11872784	11872784	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtggactttcaacctgaaGactaaggaaaacccatccaa	8	10	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:11872784G>A	uc002gne.2	+	69	13469	c.13401G>A	c.(13399-13401)AAG>AAA	p.K4467K	DNAH9_uc010coo.2_Silent_p.K3685K|DNAH9_uc002gnf.2_Silent_p.K779K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4467					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TCAACCTGAAGACTAAGGAAA	0.507													A	11872784	G	A	11872784	2	1	230	1	0	0	0	0	0	0	0	1	4608	933	33	4		4	DNAH9	17	11872784	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1555251	11872784	69322426	445	116619											
SMCR8	140775	broad.mit.edu	37	chr17	18220238	18220238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagactttgtggaggtcGatgacaggatggtggagaaa	16	3	0	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:18220238G>A	uc002gsy.3	+	1	1645	c.1135G>A	c.(1135-1137)GAT>AAT	p.D379N		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	379										central_nervous_system(1)	1						TGTGGAGGTCGATGACAGGAT	0.448													A	18220238	G	A	18220238	3	1	230	1	0	0	0	0	1	0	0	0	14792	1058	37	1	1137	1	SMCR8	17	18220238	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6347454	18220238	62974972	446	116620											
RNF112	7732	broad.mit.edu	37	chr17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactggaacgaggggcgcGccgtggccaggggggacaga	21	9	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:19318461G>A	uc010vyw.1	+	11	1436	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	RNF112_uc010vyv.1_Missense_Mutation_p.A414T|RNF112_uc010vyx.1_Missense_Mutation_p.A296T	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	413							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CGAGGGGCGCGCCGTGGCCAG	0.662													A	19318461	G	A	19318461	3	1	230	1	0	0	0	0	1	0	0	0	13426	1087	38	1	989	1	RNF112	17	19318461	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1098223	19318461	61876749	447	116621											
LRRC37B	114659	broad.mit.edu	37	chr17	30376229	30376229	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccttgaaaatggaatgttCagaaacacatgtgcaaggga	11	6	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:30376229C>A	uc002hgu.2	+	10	2503	c.2492C>A	c.(2491-2493)TCA>TAA	p.S831*	LRRC37B_uc010wbx.1_Nonsense_Mutation_p.S749*|LRRC37B_uc010csu.2_Nonsense_Mutation_p.S780*	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	831	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGGAATGTTCAGAAACACAT	0.488													A	30376229	C	A	30376229	4	1	230	1	0	0	0	0	0	1	0	0	8994	838	29	5	2530	5	LRRC37B	17	30376229	Nonsense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	11057768	30376229	50818981	448	116622											
MYO1D	4642	broad.mit.edu	37	chr17	31039133	31039133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcctgaaaaccacacCgttcaattagtttcttgaca	4	12	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:31039133C>T	uc002hho.1	-	16	2006	c.1994G>A	c.(1993-1995)CGG>CAG	p.R665Q	MYO1D_uc002hhp.1_Missense_Mutation_p.R665Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	665	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAACCACACCGTTCAATTAG	0.423													T	31039133	C	T	31039133	3	4	230	1	0	0	0	0	1	0	0	0	10071	652	23	1	1054	1	MYO1D	17	31039133	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	662904	31039133	50156077	449	116623											
LIG3	3980	broad.mit.edu	37	chr17	33310486	33310487	+	Frame_Shift_Ins	INS	-	-	A													agcgggcccgggccaccacaINSaaaaaaatcgaggacctcac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:33310485_33310486C>CA	uc002hik.2	+	1	590_591	c.461_462C>CA	c.(460-462)acafs	p.T154fs	LIG3_uc002hii.3_Frame_Shift_Ins_p.T154fs|LIG3_uc002hij.3_Frame_Shift_Ins_p.T154fs|LIG3_uc010cth.1_Frame_Shift_Ins_p.T163fs	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	154					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|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)	CGGGCCACCACAAAAAAAATCG	0.485								Other BER factors					A	33310487	-	A	33310486	7	5	230	1	0	1	1	0	0	0	0	0	8782	117	5	0	464	0	LIG3	17	33310486	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	2271353	33310486	47884724	450	116624											
SLFN5	162394	broad.mit.edu	37	chr17	33586177	33586177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaattcattaggtccacaGgcagctcagggtagtgtaca	10	10	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:33586177G>T	uc002hjf.3	+	2	585	c.468G>T	c.(466-468)CAG>CAT	p.Q156H	SLFN5_uc002hje.2_Missense_Mutation_p.Q156H|SLFN5_uc010wcg.1_Missense_Mutation_p.Q156H	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	156					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TAGGTCCACAGGCAGCTCAGG	0.428													T	33586177	G	T	33586177	3	4	230	1	0	0	0	0	1	0	0	0	14737	991	35	5	470	5	SLFN5	17	33586177	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	275691	33586177	47609033	451	116625											
STARD3	10948	broad.mit.edu	37	chr17	37817248	37817248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagggacttcgtgaatgTccggcgcattgagcggcgca	15	12	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:37817248T>C	uc002hsd.2	+	13	1173	c.1049T>C	c.(1048-1050)GTC>GCC	p.V350A	STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.V332A|STARD3_uc010wei.1_Missense_Mutation_p.V350A|STARD3_uc002hsf.2_Missense_Mutation_p.V216A|STARD3_uc002hsg.2_Missense_Mutation_p.V183A	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	350	START.|Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	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)			TTCGTGAATGTCCGGCGCATT	0.607													C	37817248	T	C	37817248	3	2	230	1	0	0	0	0	1	0	0	0	15256	1667	58	3	1108	3	STARD3	17	37817248	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	4231071	37817248	43377962	452	116626											
FKBP10	60681	broad.mit.edu	37	chr17	39978604	39978604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacggcaagatcacagtcGacgagctcaagctgaagtca	12	10	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:39978604G>A	uc002hxv.2	+	10	2018	c.1693G>A	c.(1693-1695)GAC>AAC	p.D565N	FKBP10_uc002hxw.1_Missense_Mutation_p.D329N	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	565	EF-hand 2.|2 (Potential).				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GATCACAGTCGACGAGCTCAA	0.612													A	39978604	G	A	39978604	3	1	230	1	0	0	0	0	1	0	0	0	5902	1058	37	1	1731	1	FKBP10	17	39978604	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2161356	39978604	41216606	453	116627											
TTC25	83538	broad.mit.edu	37	chr17	40087077	40087077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattttctaaagccgcgcAgagcttcagcaacgtgagtc	11	10	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:40087077A>G	uc002hyj.3	+	1	190	c.101A>G	c.(100-102)CAG>CGG	p.Q34R	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.Q34R	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	34	TPR 1.					cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AAAGCCGCGCAGAGCTTCAGC	0.453													G	40087077	A	G	40087077	3	3	230	1	0	0	0	0	1	0	0	0	16690	188	7	3	103	3	TTC25	17	40087077	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	108473	40087077	41108133	454	116628											
KAT2A	2648	broad.mit.edu	37	chr17	40267056	40267056	+	Splice_Site	DEL	G	G	-													gatgtccttggagaaaccctGgggggtggatggtcatgacc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:40267055_40267055TG>T	uc002hyx.2	-	13	1936	c.1876_splice	c.e13-1	p.G626_splice	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	626	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						GGAGAAACCCTGGGGGGTGGA	0.577													-	40267056	G	-	40267056	8	5	230	1	0	1	0	1	0	0	1	0	7981	1363	47	0		0	KAT2A	17	40267056	Splice_Site	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	179979	40267056	40928154	455	116629											
NAGLU	4669	broad.mit.edu	37	chr17	40693036	40693036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taactgttcctactcctgctCcttccttctggctccggaag	7	15	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:40693036C>T	uc002hzv.2	+	5	1173	c.833C>T	c.(832-834)TCC>TTC	p.S278F		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	278						lysosome	alpha-N-acetylglucosaminidase activity				0		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)	TACTCCTGCTCCTTCCTTCTG	0.532													T	40693036	C	T	40693036	3	4	230	1	0	0	0	0	1	0	0	0	10143	855	30	4	851	4	NAGLU	17	40693036	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	425980	40693036	40502174	456	116630											
AOC3	8639	broad.mit.edu	37	chr17	41003845	41003846	+	Frame_Shift_Ins	INS	-	-	C													actgtggagcgtcatggaggINSccccctgccctatcaccgac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:41003845_41003846insC	uc002ibv.2	+	1	645_646	c.485_486insC	c.(484-486)GGCfs	p.G162fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	162	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGTCATGGAGGCCCCCTGCCCT	0.614													C	41003846	-	C	41003845	7	5	230	1	0	1	1	0	0	0	0	0	728	1203	42	0	487	0	AOC3	17	41003845	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	310809	41003845	40191365	457	116631	555	2									
AOC3	8639	broad.mit.edu	37	chr17	41003846	41003847	+	Frame_Shift_Ins	INS	-	-	C													ctgtggagcgtcatggaggcINScccctgccctatcaccgacg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:41003845_41003846G>GC	uc002ibv.3	+	0	645_646	c.485_486G>GC	c.(484-486)ggcfs	p.G162fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	162					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGTCATGGAGGCCCCCTGCCCT	0.614													C	41003847	-	C	41003846	7	5	230	1	0	1	1	0	0	0	0	0	728	726	26	0	488	0	AOC3	17	41003846	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	41003846	40191364	458	116632	555	2									
GRN	2896	broad.mit.edu	37	chr17	42430079	42430079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgctggcttccgctgCgcagccaggggtaccaagtg	14	13	0	0	rs63751248		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:42430079C>T	uc002igp.1	+	13	1914	c.1695C>T	c.(1693-1695)TGC>TGT	p.C565C	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	565					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTTCCGCTGCGCAGCCAGGG	0.662													T	42430079	C	T	42430079	2	4	230	1	0	0	0	0	0	0	0	1	6804	776	27	1		1	GRN	17	42430079	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1426233	42430079	38765131	459	116633											
C17orf46	124783	broad.mit.edu	37	chr17	43333097	43333097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtgcttggaggtctgcGcactgatggagtgatggcag	18	6	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:43333097G>A	uc002iis.1	-	4	548	c.452C>T	c.(451-453)GCG>GTG	p.A151V	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.A130V	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	151										large_intestine(1)|ovary(1)	2						GGAGGTCTGCGCACTGATGGA	0.582													A	43333097	G	A	43333097	3	1	230	1	0	0	0	0	1	0	0	0	1857	1087	38	1	710	1	C17orf46	17	43333097	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	903018	43333097	37862113	460	116634											
IMP5	162540	broad.mit.edu	37	chr17	43922586	43922586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaactgcagcttccacaCgaaaggctggctggctcagg	14	11	1	0	rs139470538	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:43922586C>T	uc010wka.1	+	1	314	c.314C>T	c.(313-315)ACG>ATG	p.T105M	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	105	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		AGCTTCCACACGAAAGGCTGG	0.667													T	43922586	C	T	43922586	3	4	230	1	0	0	0	0	1	0	0	0	7721	536	19	1	316	1	IMP5	17	43922586	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	589489	43922586	37272624	461	116635											
WNT9B	7484	broad.mit.edu	37	chr17	44949949	44949949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagccccggcacagggCggggcccacctgaagcagtg	17	15	0	1	rs146743600	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:44949949C>T	uc002ikw.1	+	2	181	c.144C>T	c.(142-144)GGC>GGT	p.G48G	WNT9B_uc002ikx.1_Silent_p.G48G	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	48					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGGCACAGGGCGGGGCCCACC	0.692													T	44949949	C	T	44949949	2	4	230	1	0	0	0	0	0	0	0	1	17396	755	27	1		1	WNT9B	17	44949949	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1027363	44949949	36245261	462	116636											
HOXB3	3213	broad.mit.edu	37	chr17	46629614	46629614	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggggccagacccggccTcatgcagctgccgttgagct	14	15	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:46629614T>G	uc002inn.2	-	1	623	c.223A>C	c.(223-225)AGG>CGG	p.R75R	HOXB3_uc010wlm.1_Silent_p.R2R|HOXB3_uc010dbf.2_Silent_p.R75R|HOXB3_uc010dbg.2_Silent_p.R75R|HOXB3_uc002ino.2_Silent_p.R75R|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Silent_p.R2R	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	75					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGACCCGGCCTCATGCAGCTG	0.692													G	46629614	T	G	46629614	2	3	230	1	0	0	0	0	0	0	0	1	7302	1550	54	5		5	HOXB3	17	46629614	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1679665	46629614	34565596	463	116637											
SPATA20	64847	broad.mit.edu	37	chr17	48628247	48628247	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgaagcactacggccTcacagaggctggtaacatca	9	13	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:48628247T>A	uc002irf.2	+	10	1445	c.1304T>A	c.(1303-1305)CTC>CAC	p.L435H	SPATA20_uc002irc.2_Missense_Mutation_p.L102H|SPATA20_uc002ire.2_Missense_Mutation_p.L391H|SPATA20_uc002ird.2_Missense_Mutation_p.L451H|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	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				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CACTACGGCCTCACAGAGGCT	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48628247	T	A	48628247	3	1	230	1	0	0	0	0	1	0	0	0	15005	1551	54	5	1394	5	SPATA20	17	48628247	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1998633	48628247	32566963	464	116638											
TOM1L1	10040	broad.mit.edu	37	chr17	52991190	52991191	+	Frame_Shift_Del	DEL	CA	CA	-													acctggttaagaaaggcgttCagtttcctccctcagaagca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:52991190_52991191delCA	uc002iud.2	+	5	629_630	c.454_455delCA	c.(454-456)CAGfs	p.Q152fs	TOM1L1_uc002iub.2_Frame_Shift_Del_p.Q117fs|TOM1L1_uc002iuc.2_Frame_Shift_Del_p.Q152fs|TOM1L1_uc010dca.1_Frame_Shift_Del_p.Q152fs|TOM1L1_uc010wnb.1_Frame_Shift_Del_p.Q145fs|TOM1L1_uc010wnc.1_Frame_Shift_Del_p.Q75fs|TOM1L1_uc010dbz.2_Frame_Shift_Del_p.Q75fs|TOM1L1_uc010wnd.1_Frame_Shift_Del_p.Q75fs|TOM1L1_uc010dcb.1_RNA	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	152	VHS.				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			ovary(1)	1						GAAAGGCGTTCAGTTTCCTCCC	0.465													-	52991191	CA	-	52991190	7	5	230	1	0	1	0	1	0	0	0	0	16349	827	29	0	472	0	TOM1L1	17	52991190	Frame_Shift_Del	DEL	CA	TCGA-D7-A4YY-01A-11D-A25D-08	4362943	52991190	28204020	465	116639											
GDPD1	284161	broad.mit.edu	37	chr17	57344479	57344479	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcactggcctcttgccCtttgtgcccattcgagaaca	7	14	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:57344479C>A	uc002ixk.1	+	7	791	c.654C>A	c.(652-654)CCC>CCA	p.P218P	GDPD1_uc002ixj.2_Silent_p.P218P	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	218	GDPD.|Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GCCTCTTGCCCTTTGTGCCCA	0.363													A	57344479	C	A	57344479	2	1	230	1	0	0	0	0	0	0	0	1	6323	668	24	5		5	GDPD1	17	57344479	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	4353289	57344479	23850731	466	116640											
USH1G	124590	broad.mit.edu	37	chr17	72916026	72916026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaaacagggagtcgtggCctgagtcggtgctgacctcc	16	10	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:72916026C>T	uc002jme.1	-	2	1088	c.905G>A	c.(904-906)GGC>GAC	p.G302D	USH1G_uc010wro.1_Missense_Mutation_p.G199D	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	302					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					GGAGTCGTGGCCTGAGTCGGT	0.682													T	72916026	C	T	72916026	3	4	230	1	0	0	0	0	1	0	0	0	17032	739	26	2	488	2	USH1G	17	72916026	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	15571547	72916026	8279184	467	116641											
NARF	26502	broad.mit.edu	37	chr17	80430462	80430462	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcactatgtatttgatacGacgatagctgcggattttag	11	6	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr17:80430462G>A	uc002kfg.3	+	5	548	c.408G>A	c.(406-408)ACG>ACA	p.T136T	NARF_uc002kff.3_Silent_p.T77T|NARF_uc010wvo.1_Intron|NARF_uc010wvp.1_Intron|NARF_uc010dit.2_Silent_p.T136T|NARF_uc002kfj.3_Silent_p.T88T|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Silent_p.T136T|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	136						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TATTTGATACGACGATAGCTG	0.433													A	80430462	G	A	80430462	2	1	230	1	0	0	0	0	0	0	0	1	10167	1045	37	1		1	NARF	17	80430462	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	7514436	80430462	764748	468	116642											
EPB41L3	23136	broad.mit.edu	37	chr18	5416287	5416287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgcagtcattctcctTacacctcctacggagctctg	7	14	3	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr18:5416287T>C	uc002kmt.1	-	13	1683	c.1597A>G	c.(1597-1599)AAG>GAG	p.K533E	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	533	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TCATTCTCCTTACACCTCCTA	0.582													C	5416287	T	C	5416287	3	2	230	1	0	0	0	0	1	0	0	0	5154	1763	61	3	1706	3	EPB41L3	18	5416287	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08		5416287	72660961	469	116643											
LAMA1	284217	broad.mit.edu	37	chr18	7040146	7040146	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcacccacaggagacacAggtcgggtaatccttatagc	11	11	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr18:7040146A>C	uc002knm.2	-	10	1445	c.1351T>G	c.(1351-1353)TGT>GGT	p.C451G	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	451	Laminin EGF-like 3.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGAGACACAGGTCGGGTAA	0.537													C	7040146	A	C	7040146	3	2	230	1	0	0	0	0	1	0	0	0	8605	188	7	5	8092	5	LAMA1	18	7040146	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	1623859	7040146	71037102	470	116644											
ROCK1	6093	broad.mit.edu	37	chr18	18586553	18586553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtaagtcattggcttcTtctagctatttaaaaagaaa	6	6	3	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr18:18586553T>A	uc002kte.2	-	16	2585	c.1644A>T	c.(1642-1644)GAA>GAT	p.E548D		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	548	Interaction with FHOD1.|Potential.				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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					CATTGGCTTCTTCTAGCTATT	0.338													A	18586553	T	A	18586553	3	1	230	1	0	0	0	0	1	0	0	0	13517	1606	56	5	2492	5	ROCK1	18	18586553	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	11546407	18586553	59490695	471	116645											
MYO5B	4645	broad.mit.edu	37	chr18	47432990	47432990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcggccaaactggaacTtgtcggggtcctttacaagg	14	9	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr18:47432990T>C	uc002leb.2	-	19	2501	c.2213A>G	c.(2212-2214)AAG>AGG	p.K738R		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	738	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		AAACTGGAACTTGTCGGGGTC	0.547													C	47432990	T	C	47432990	3	2	230	1	0	0	0	0	1	0	0	0	10079	1609	56	3	3421	3	MYO5B	18	47432990	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	28846437	47432990	30644258	472	116646											
ADNP2	22850	broad.mit.edu	37	chr18	77894218	77894218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcccagccgcaggacagCcagtgactgtggcccagggt	14	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr18:77894218C>T	uc002lnw.2	+	4	1377	c.922C>T	c.(922-924)CCA>TCA	p.P308S		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	308	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CGCAGGACAGCCAGTGACTGT	0.632													T	77894218	C	T	77894218	3	4	230	1	0	0	0	0	1	0	0	0	324	739	26	2	932	2	ADNP2	18	77894218	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	30461228	77894218	183030	473	116647											
LPPR3	79948	broad.mit.edu	37	chr19	812972	812972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggtggtgcggcgcgtgCgcgtcgatggtcacgatgct	19	10	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:812972C>T	uc002lpx.1	-	8	1819	c.1755G>A	c.(1753-1755)GCG>GCA	p.A585A	LPPR3_uc010dru.1_Intron|LPPR3_uc002lpw.1_Silent_p.A613A|LPPR3_uc002lpy.1_Silent_p.A366A|hsa-mir-3187|MI0014231_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	585						integral to membrane	phosphatidate phosphatase activity				0						GCGGCGCGTGCGCGTCGATGG	0.771													T	812972	C	T	812972	2	4	230	1	0	0	0	0	0	0	0	1	8926	755	27	1		1	LPPR3	19	812972	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08		812972	58316011	474	116648											
GADD45B	4616	broad.mit.edu	37	chr19	2477069	2477069	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcttggccattgacgaGgaggaggaggatgacatcgc	15	9	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:2477069G>C	uc002lwb.1	+	3	411	c.189G>C	c.(187-189)GAG>GAC	p.E63D	GADD45B_uc010dtd.1_Missense_Mutation_p.E48D|GADD45B_uc002lwc.1_Missense_Mutation_p.E48D	NM_015675	NP_056490	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	63					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress						0		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)		CCATTGACGAGGAGGAGGAGG	0.627											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	2477069	G	C	2477069	3	2	230	1	0	0	0	0	1	0	0	0	6182	991	35	5	199	5	GADD45B	19	2477069	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1664097	2477069	56651914	475	116649											
TLE2	7089	broad.mit.edu	37	chr19	3009543	3009543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacccaaggactcaccacGggggagcgtccgtacaccac	10	18	1	0	rs145514117	by1000genomes	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:3009543G>A	uc002lww.2	-	13	1433	c.1170C>T	c.(1168-1170)CCC>CCT	p.P390P	TLE2_uc010xhb.1_Silent_p.P57P|TLE2_uc010dth.2_Silent_p.P391P|TLE2_uc010xhc.1_Silent_p.P268P|TLE2_uc010dti.2_Silent_p.P404P|TLE2_uc010xhd.1_Silent_p.P298P	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	390	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		GACTCACCACGGGGGAGCGTC	0.647													A	3009543	G	A	3009543	2	1	230	1	0	0	0	0	0	0	0	1	15936	1103	39	1		1	TLE2	19	3009543	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	532474	3009543	56119440	476	116650											
AES	166	broad.mit.edu	37	chr19	3053823	3053823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggccccctgctaatcCgacttctcgccatcatcctc	6	20	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:3053823C>T	uc002lwy.1	-	7	761	c.588G>A	c.(586-588)TCG>TCA	p.S196S	AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Silent_p.S195S|AES_uc002lxa.1_Silent_p.S140S|AES_uc002lxb.1_Silent_p.S263S|AES_uc002lxc.2_3'UTR	NM_001130	NP_001121	Q08117	AES_HUMAN	amino-terminal enhancer of split isoform b	196	CCN domain.				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				0		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)		CCTGCTAATCCGACTTCTCGC	0.617													T	3053823	C	T	3053823	2	4	230	1	0	0	0	0	0	0	0	1	352	639	23	1		1	AES	19	3053823	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	44280	3053823	56075160	477	116651											
SAFB	6294	broad.mit.edu	37	chr19	5667168	5667169	+	Frame_Shift_Ins	INS	-	-	C													gggccgggggctgcctcctcINScccccaggtttgtgtcccac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:5667167_5667168T>TC	uc002mcg.3	+	17	2616_2617	c.2445_2446T>TC	c.(2443-2448)cctcccfs	p.P815fs	SAFB_uc002mcf.3_Frame_Shift_Ins_p.P815fs|SAFB_uc002mce.4_Frame_Shift_Ins_p.P814fs|SAFB_uc010xis.2_Frame_Shift_Ins_p.P746fs|SAFB_uc010xit.2_Frame_Shift_Ins_p.P657fs|SAFB_uc010xir.2_Frame_Shift_Ins_p.P814fs|SAFB_uc010xiu.2_Frame_Shift_Ins_p.P614fs	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	815	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein 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)		GGCTGCCTCCTCCCCCCAGGTT	0.693													C	5667169	-	C	5667168	7	5	230	1	0	1	1	0	0	0	0	0	13806	855	30	0	2516	0	SAFB	19	5667168	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	2613345	5667168	53461815	478	116652											
DUS3L	56931	broad.mit.edu	37	chr19	5789651	5789651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcgggggcccaggtcgGccggcttggtctccaggtag	18	13	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:5789651G>A	uc002mdc.2	-	3	564	c.467C>T	c.(466-468)GCC>GTC	p.A156V	DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	156	C3H1-type 2.				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GCCCAGGTCGGCCGGCTTGGT	0.647													A	5789651	G	A	5789651	3	1	230	1	0	0	0	0	1	0	0	0	4807	1203	42	2	1529	2	DUS3L	19	5789651	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	122483	5789651	53339332	479	116653											
XAB2	56949	broad.mit.edu	37	chr19	7691040	7691040	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggtagttggacttgccGgccttagacacgaaacgctc	11	12	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:7691040G>T	uc002mgx.2	-	5	665	c.639C>A	c.(637-639)GCC>GCA	p.A213A		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	213	HAT 6.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						TGGACTTGCCGGCCTTAGACA	0.642								Direct_reversal_of_damage|NER					T	7691040	G	T	7691040	2	4	230	1	0	0	0	0	0	0	0	1	17415	1103	39	5		5	XAB2	19	7691040	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1901389	7691040	51437943	480	116654											
SNAPC2	6618	broad.mit.edu	37	chr19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-													ctccaaggcaccagaggagaCccccccagccaccgagaagg					rs143745112	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					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						ACCAGAGGAGACCCCCCCAGC	0.667													-	7987519	C	-	7987519	7	5	230	1	0	1	0	1	0	0	0	0	14835	507	18	0	893	0	SNAPC2	19	7987519	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	296479	7987519	51141464	481	116655											
MUC16	94025	broad.mit.edu	37	chr19	9085983	9085983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgtagaaatgacttcTtccactggaatggatgaaaa	9	7	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:9085983T>C	uc002mkp.2	-	1	6036	c.5832A>G	c.(5830-5832)GAA>GAG	p.E1944E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1944	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AAATGACTTCTTCCACTGGAA	0.488													C	9085983	T	C	9085983	2	2	230	1	0	0	0	0	0	0	0	1	9973	1606	56	3		3	MUC16	19	9085983	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1098464	9085983	50043000	482	116656											
ICAM3	3385	broad.mit.edu	37	chr19	10446426	10446426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgtccagttctgtgcgGcatgagaaaggggctccgtg	15	9	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:10446426G>A	uc002mob.2	-	3	625	c.570C>T	c.(568-570)TGC>TGT	p.C190C	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Silent_p.C113C|ICAM3_uc010xlf.1_Silent_p.C113C	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	190	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GTTCTGTGCGGCATGAGAAAG	0.657													A	10446426	G	A	10446426	2	1	230	1	0	0	0	0	0	0	0	1	7481	1195	42	2		2	ICAM3	19	10446426	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1360443	10446426	48682557	483	116657											
DOCK6	57572	broad.mit.edu	37	chr19	11356341	11356341	+	Frame_Shift_Del	DEL	C	C	-													gtgccatgagcccgaagcagCcccttcatggagtccgagtt							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:11356341delC	uc002mqs.3	-	9	962	c.921delG	c.(919-921)GGGfs	p.G307fs		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	307					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCCGAAGCAGCCCCTTCATGG	0.557													-	11356341	C	-	11356341	7	5	230	1	0	1	0	1	0	0	0	0	4691	726	26	0	5382	0	DOCK6	19	11356341	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	909915	11356341	47772642	484	116658											
ZNF653	115950	broad.mit.edu	37	chr19	11594503	11594503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcaggtgggtcaggtGggcttgtgatccgggtggct	20	6	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:11594503G>A	uc002mrz.1	-	9	1895	c.1842C>T	c.(1840-1842)CCC>CCT	p.P614P	ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGGTCAGGTGGGCTTGTGAT	0.642													A	11594503	G	A	11594503	2	1	230	1	0	0	0	0	0	0	0	1	18063	1335	47	4		4	ZNF653	19	11594503	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	238162	11594503	47534480	485	116659											
ZNF878	729747	broad.mit.edu	37	chr19	12155555	12155555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtctctctccagtgtGcattctcatgtgtgtctgaa	10	9	4	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:12155555G>A	uc002mta.1	-	5	802	c.802C>T	c.(802-804)CAC>TAC	p.H268Y		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	221	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TCTCCAGTGTGCATTCTCATG	0.393													A	12155555	G	A	12155555	3	1	230	1	0	0	0	0	1	0	0	0	18193	1319	46	2	938	2	ZNF878	19	12155555	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	561052	12155555	46973428	486	116660											
ZNF443	10224	broad.mit.edu	37	chr19	12542364	12542365	+	Frame_Shift_Ins	INS	-	-	A													atatgtaataaactgggccaINSaaaaaacgctttcccacaca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:12542363_12542364C>CA	uc002mtu.3	-	3	820_821	c.622_623G>TG	c.(622-624)tggfs	p.W208fs		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	208					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAACTGGGCCAAAAAAACGCT	0.406													A	12542365	-	A	12542364	7	5	230	1	0	1	1	0	0	0	0	0	17913	130	5	0	1397	0	ZNF443	19	12542364	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	386809	12542364	46586619	487	116661											
MAN2B1	4125	broad.mit.edu	37	chr19	12766648	12766648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaggctgagaacagcaGctccggagggtgcgcctggc	17	11	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:12766648G>T	uc002mub.2	-	14	1766	c.1690C>A	c.(1690-1692)CTG>ATG	p.L564M	MAN2B1_uc010dyv.1_Missense_Mutation_p.L563M	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	564					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GAGAACAGCAGCTCCGGAGGG	0.597													T	12766648	G	T	12766648	3	4	230	1	0	0	0	0	1	0	0	0	9216	962	34	5	1389	5	MAN2B1	19	12766648	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	224284	12766648	46362335	488	116662											
ASNA1	439	broad.mit.edu	37	chr19	12858229	12858229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagacaactttcatctgCgtatgcattgctgagttcct	9	10	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:12858229C>T	uc002muv.2	+	6	752	c.738C>T	c.(736-738)TGC>TGT	p.C246C	ASNA1_uc002muw.2_Silent_p.C245C	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	246					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	CTTTCATCTGCGTATGCATTG	0.572													T	12858229	C	T	12858229	2	4	230	1	0	0	0	0	0	0	0	1	1047	776	27	1		1	ASNA1	19	12858229	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	91581	12858229	46270754	489	116663											
RTBDN	83546	broad.mit.edu	37	chr19	12936719	12936719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtggcccagagccgagCgacaaaggtccgtcccgtct	15	14	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:12936719C>T	uc002mvi.2	-	6	621	c.491G>A	c.(490-492)CGC>CAC	p.R164H	RTBDN_uc002mvh.1_3'UTR|RTBDN_uc002mvj.2_Missense_Mutation_p.R196H	NM_001080997	NP_001074466	Q9BSG5	RTBDN_HUMAN	retbindin isoform 1	164						extracellular region					0						CAGAGCCGAGCGACAAAGGTC	0.647											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	12936719	C	T	12936719	3	4	230	1	0	0	0	0	1	0	0	0	13717	768	27	1	202	1	RTBDN	19	12936719	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	78490	12936719	46192264	490	116664											
CALR	811	broad.mit.edu	37	chr19	13051426	13051426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgggatgaagagatggaCggagagtgggaacccccagt	17	7	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:13051426C>T	uc002mvu.2	+	6	854	c.774C>T	c.(772-774)GAC>GAT	p.D258D		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	258	P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGAGATGGACGGAGAGTGGG	0.572													T	13051426	C	T	13051426	2	4	230	1	0	0	0	0	0	0	0	1	2592	535	19	1		1	CALR	19	13051426	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	114707	13051426	46077557	491	116665											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941297	13941297	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggcggccggcggcctgggCcacgcccacctcttcactgt	14	18	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:13941297C>G	uc002mxh.1	+	13	2592	c.2403C>G	c.(2401-2403)GGC>GGG	p.G801G	ZSWIM4_uc010xng.1_Silent_p.G724G	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	801							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCGGCCTGGGCCACGCCCACC	0.701													G	13941297	C	G	13941297	2	3	230	1	0	0	0	0	0	0	0	1	18240	726	26	5		5	ZSWIM4	19	13941297	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	889871	13941297	45187686	492	116666											
AKAP8	10270	broad.mit.edu	37	chr19	15483797	15483797	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaagagggacggaggtggCcggctgggggagggccctcc	22	9	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:15483797C>A	uc002nav.2	-	5	787	c.726G>T	c.(724-726)CGG>CGT	p.R242R	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Silent_p.R56R	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	242					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						ACGGAGGTGGCCGGCTGGGGG	0.697													A	15483797	C	A	15483797	2	1	230	1	0	0	0	0	0	0	0	1	457	726	26	5		5	AKAP8	19	15483797	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1542500	15483797	43645186	493	116667											
CYP4F3	4051	broad.mit.edu	37	chr19	15760824	15760825	+	Frame_Shift_Ins	INS	-	-	C													gacttcctgtattatctcacINSccctgatgggcagcgtttcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:15760823_15760824A>AC	uc010xok.2	+	6	798_799	c.748_749A>AC	c.(748-750)accfs	p.T250fs	CYP4F3_uc010xol.2_Frame_Shift_Ins_p.T250fs|CYP4F3_uc002nbj.3_Frame_Shift_Ins_p.T250fs|CYP4F3_uc010xom.2_Frame_Shift_Ins_p.T101fs|CYP4F3_uc002nbk.3_Frame_Shift_Ins_p.T250fs|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	250					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						GTATTATCTCACCCCTGATGGG	0.574													C	15760825	-	C	15760824	7	5	230	1	0	1	1	0	0	0	0	0	4190	507	18	0	771	0	CYP4F3	19	15760824	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	277027	15760824	43368159	494	116668											
KCNN1	3780	broad.mit.edu	37	chr19	18085055	18085055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcatgtttggcatcgtcGtcatggtgacggagaccgag	15	9	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:18085055G>A	uc002nht.2	+	3	668	c.358G>A	c.(358-360)GTC>ATC	p.V120I	KCNN1_uc010xqa.1_Missense_Mutation_p.V120I	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	120	Helical; Name=Segment S1; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						TGGCATCGTCGTCATGGTGAC	0.642													A	18085055	G	A	18085055	3	1	230	1	0	0	0	0	1	0	0	0	8078	1145	40	1	360	1	KCNN1	19	18085055	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2324231	18085055	41043928	495	116669											
ZNF257	113835	broad.mit.edu	37	chr19	22256357	22256357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagacatgagatggtagccAaacccccaggtaggtgagag	14	8	0	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:22256357A>G	uc010ecx.2	+	3	386	c.217A>G	c.(217-219)AAA>GAA	p.K73E	ZNF257_uc010ecy.2_Missense_Mutation_p.K41E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATGGTAGCCAAACCCCCAGG	0.443													G	22256357	A	G	22256357	3	3	230	1	0	0	0	0	1	0	0	0	17797	131	5	3	227	3	ZNF257	19	22256357	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	4171302	22256357	36872626	496	116670											
ZNF99	7652	broad.mit.edu	37	chr19	22952753	22952753	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaatcatacagaataAgtcttgtacatttttcagac	4	6	3	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:22952753A>C	uc010xrh.1	-	1	32	c.32T>G	c.(31-33)CTT>CGT	p.L11R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATACAGAATAAGTCTTGTACA	0.224													C	22952753	A	C	22952753	3	2	230	1	0	0	0	0	1	0	0	0	18201	72	3	5	3108	5	ZNF99	19	22952753	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	696396	22952753	36176230	497	116671											
ZNF681	148213	broad.mit.edu	37	chr19	23926764	23926764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtgtagggtttctctcCagtatgaattttcttatgtt	8	6	2	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:23926764C>T	uc002nrk.3	-	4	1730	c.1588G>A	c.(1588-1590)GGA>AGA	p.G530R	ZNF681_uc002nrl.3_Missense_Mutation_p.G461R|ZNF681_uc002nrj.3_Missense_Mutation_p.G461R	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGTTTCTCTCCAGTATGAATT	0.378													T	23926764	C	T	23926764	3	4	230	1	0	0	0	0	1	0	0	0	18085	603	21	4	353	4	ZNF681	19	23926764	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	974011	23926764	35202219	498	116672											
PAK4	10298	broad.mit.edu	37	chr19	39668366	39668367	+	Frame_Shift_Ins	INS	-	-	C													tgagatggtggacggagagcINSccccctacttcaacgagcca							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:39668365_39668366G>GC	uc002okj.1	+	9	1997_1998	c.1536_1537G>GC	c.(1534-1539)gagcccfs	p.E512fs	PAK4_uc002okl.1_Frame_Shift_Ins_p.E512fs|PAK4_uc002okn.1_Frame_Shift_Ins_p.E512fs|PAK4_uc002okm.1_Frame_Shift_Ins_p.E359fs|PAK4_uc002oko.1_Frame_Shift_Ins_p.E359fs|PAK4_uc002okp.1_Frame_Shift_Ins_p.E422fs	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	512	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TGGACGGAGAGCCCCCCTACTT	0.604													C	39668367	-	C	39668366	7	5	230	1	0	1	1	0	0	0	0	0	11403	739	26	0	1563	0	PAK4	19	39668366	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	15741602	39668366	19460617	499	116673											
AXL	558	broad.mit.edu	37	chr19	41765646	41765647	+	Frame_Shift_Ins	INS	-	-	C													ggagctgcaggaggagctgaINSccccccaacccagccagacc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:41765646_41765647insC	uc010ehj.2	+	20	2712_2713	c.2522_2523insC	c.(2521-2523)GACfs	p.D841fs	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Frame_Shift_Ins_p.D832fs|HNRNPUL1_uc010ehl.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	841	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GGAGGAGCTGACCCCCCAACCC	0.594													C	41765647	-	C	41765646	7	5	230	1	0	1	1	0	0	0	0	0	1238	275	10	0	2600	0	AXL	19	41765646	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	2097280	41765646	17363337	500	116674	556	2									
AXL	558	broad.mit.edu	37	chr19	41765647	41765648	+	Frame_Shift_Ins	INS	-	-	C													gagctgcaggaggagctgacINScccccaacccagccagaccc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:41765646_41765647A>AC	uc010ehj.3	+	19	2712_2713	c.2522_2523A>AC	c.(2521-2523)gacfs	p.D841fs	HNRNPUL1_uc002opz.4_5'Flank|HNRNPUL1_uc002oqa.4_5'Flank|AXL_uc010ehk.3_Frame_Shift_Ins_p.D832fs|HNRNPUL1_uc010ehl.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	841						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						GGAGGAGCTGACCCCCCAACCC	0.594													C	41765648	-	C	41765647	7	5	230	1	0	1	1	0	0	0	0	0	1238	506	18	0	2601	0	AXL	19	41765647	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	41765647	17363336	501	116675	556	2									
CCDC97	90324	broad.mit.edu	37	chr19	41822657	41822657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacttctactgtgctgagGtggcccggcagggcactgcc	14	13	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:41822657G>T	uc002oqg.2	+	2	537	c.415G>T	c.(415-417)GTG>TTG	p.V139L	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	139											0						CTGTGCTGAGGTGGCCCGGCA	0.687													T	41822657	G	T	41822657	3	4	230	1	0	0	0	0	1	0	0	0	2875	1261	44	5	421	5	CCDC97	19	41822657	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	57010	41822657	17306326	502	116676											
RABAC1	10567	broad.mit.edu	37	chr19	42462919	42462919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggcccaggaacacgaAcacatagttgctctggtagt	12	9	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:42462919A>G	uc002osf.2	-	2	322	c.238T>C	c.(238-240)TTC>CTC	p.F80L		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Rab acceptor 1	80	Helical; (By similarity).					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding				0						AGGAACACGAACACATAGTTG	0.448													G	42462919	A	G	42462919	3	3	230	1	0	0	0	0	1	0	0	0	12960	43	2	3	335	3	RABAC1	19	42462919	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	640262	42462919	16666064	503	116677											
GPR77	27202	broad.mit.edu	37	chr19	47844955	47844955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggagggctcaactccGccggtcactgccagctgcct	12	14	2	0	rs117238101	by1000genomes	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:47844955G>A	uc010ela.1	+	2	1117	c.899G>A	c.(898-900)CGC>CAC	p.R300H	GPR77_uc002pgk.1_Missense_Mutation_p.R300H	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	300	Cytoplasmic (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	p.R300L(1)		ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GCTCAACTCCGCCGGTCACTG	0.632													A	47844955	G	A	47844955	3	1	230	1	0	0	0	0	1	0	0	0	6709	1087	38	1	901	1	GPR77	19	47844955	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	5382036	47844955	11284028	504	116678											
LIG1	3978	broad.mit.edu	37	chr19	48638989	48638989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagccacgtctttctggCctctgctgtcttgcccttcc	7	18	4	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:48638989C>T	uc002pia.1	-	16	1591	c.1471G>A	c.(1471-1473)GCC>ACC	p.A491T	LIG1_uc010xze.1_Missense_Mutation_p.A184T|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.A423T|LIG1_uc010xzg.1_Missense_Mutation_p.A460T	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	491					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			large_intestine(2)|lung(1)	3		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)	GTCTTTCTGGCCTCTGCTGTC	0.582								NER					T	48638989	C	T	48638989	3	4	230	1	0	0	0	0	1	0	0	0	8781	739	26	2	1340	2	LIG1	19	48638989	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	794034	48638989	10489994	505	116679											
TRPM4	54795	broad.mit.edu	37	chr19	49686010	49686010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaaccttttggaccaggCgtcccacagcgcaggcacca	10	17	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:49686010C>T	uc002pmw.2	+	11	1511	c.1439C>T	c.(1438-1440)GCG>GTG	p.A480V	TRPM4_uc010emu.2_Missense_Mutation_p.A480V|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.A306V|TRPM4_uc010emv.2_Missense_Mutation_p.A365V|TRPM4_uc010yal.1_Missense_Mutation_p.A126V|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	480	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		TTGGACCAGGCGTCCCACAGC	0.677													T	49686010	C	T	49686010	3	4	230	1	0	0	0	0	1	0	0	0	16585	768	27	1	1481	1	TRPM4	19	49686010	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1047021	49686010	9442973	506	116680											
RRAS	6237	broad.mit.edu	37	chr19	50138860	50138860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgcaggggcagcccccGcccttcttcctgggggcact	14	16	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:50138860G>A	uc002pop.1	-	6	675	c.630C>T	c.(628-630)GGC>GGT	p.G210G		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	210					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGCAGCCCCCGCCCTTCTTCC	0.567													A	50138860	G	A	50138860	2	1	230	1	0	0	0	0	0	0	0	1	13676	1074	38	1		1	RRAS	19	50138860	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	452850	50138860	8990123	507	116681											
FPR1	2357	broad.mit.edu	37	chr19	52250074	52250075	+	Frame_Shift_Ins	INS	-	-	TG													ggtaactgatggtggtgactINSgtgtgtgtcatccggaatcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:52250073_52250074C>CTG	uc021uyn.1	-	2	320_321	c.174_175G>CAG	c.(172-177)acagtcfs	p.T58fs	FPR1_uc002pxq.3_Frame_Shift_Ins_p.T58fs|FPR1_uc021uyo.1_Frame_Shift_Ins_p.T58fs	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	58					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|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)	ATGGTGGTGACTGTGTGTGTCA	0.535													TG	52250075	-	TG	52250074	7	5	230	1	0	1	1	0	0	0	0	0	6038	1567	55	0	882	0	FPR1	19	52250074	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	2111214	52250074	6878909	508	116682											
LILRA4	23547	broad.mit.edu	37	chr19	54849824	54849824	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaatatgtgcctcgacatTgagtttccctctttatccag	6	10	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:54849824T>C	uc002qfj.2	-	3	255	c.198A>G	c.(196-198)TCA>TCG	p.S66S	LILRA4_uc002qfi.2_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	66	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCCTCGACATTGAGTTTCCCT	0.527													C	54849824	T	C	54849824	2	2	230	1	0	0	0	0	0	0	0	1	8787	1799	63	3		3	LILRA4	19	54849824	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	2599750	54849824	4279159	509	116683											
LILRA2	11027	broad.mit.edu	37	chr19	55086848	55086848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtataaggagggagaaCgtgacttcctccagcgccct	11	11	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:55086848C>T	uc002qgg.3	+	5	870	c.781C>T	c.(781-783)CGT>TGT	p.R261C	LILRA2_uc010ern.2_Missense_Mutation_p.R261C|LILRA2_uc002qgf.2_Missense_Mutation_p.R261C|LILRA2_uc010yfe.1_Missense_Mutation_p.R261C|LILRA2_uc010yff.1_Missense_Mutation_p.R249C|LILRA2_uc010ero.2_Missense_Mutation_p.R249C|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	261	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GGAGGGAGAACGTGACTTCCT	0.637													T	55086848	C	T	55086848	3	4	230	1	0	0	0	0	1	0	0	0	8785	536	19	1	799	1	LILRA2	19	55086848	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	237024	55086848	4042135	510	116684											
NLRP7	199713	broad.mit.edu	37	chr19	55451098	55451098	+	Frame_Shift_Del	DEL	G	G	-													cacacaatccagcacaccgcGggggccgagcccagctggaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:55451097_55451097CG>C	uc002qih.4	-	3	1166	c.1090_1090CG>G	c.(1090-1092)gcgfs	p.A364fs	NLRP7_uc010esk.3_Frame_Shift_Del_p.A364fs|NLRP7_uc002qig.4_Frame_Shift_Del_p.A364fs|NLRP7_uc002qii.4_Frame_Shift_Del_p.A364fs|NLRP7_uc010esl.3_Frame_Shift_Del_p.A392fs	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	364	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)		CAGCACACCGCGGGGGCCGAG	0.627													-	55451098	G	-	55451098	7	5	230	1	0	1	0	1	0	0	0	0	10482	1103	39	0	2056	0	NLRP7	19	55451098	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	364250	55451098	3677885	511	116685											
NLRP2	55655	broad.mit.edu	37	chr19	55512184	55512184	+	Frame_Shift_Del	DEL	A	A	-													gctgctggaagaaatagaagAaaaaaacccacaactgatta							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:55512184delA	uc002qij.2	+	13	3193	c.3107delA	c.(3106-3108)GAAfs	p.E1036fs	NLRP2_uc010yfp.1_Frame_Shift_Del_p.E1013fs|NLRP2_uc010esn.2_Frame_Shift_Del_p.E1012fs|NLRP2_uc010eso.2_Frame_Shift_Del_p.E1033fs|NLRP2_uc010esp.2_Frame_Shift_Del_p.E1014fs	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1036					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAATAGAAGAAAAAAACCCA	0.413													-	55512184	A	-	55512184	7	5	230	1	0	1	0	1	0	0	0	0	10477	246	9	0	3153	0	NLRP2	19	55512184	Frame_Shift_Del	DEL	A	TCGA-D7-A4YY-01A-11D-A25D-08	61086	55512184	3616799	512	116686											
ZNF784	147808	broad.mit.edu	37	chr19	56133410	56133410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcccttgccgcagatgcCgcaatggtatggccgctcgc	13	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:56133410C>T	uc002qll.1	-	2	693	c.679G>A	c.(679-681)GGC>AGC	p.G227S	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	227	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGCAGATGCCGCAATGGTAT	0.672													T	56133410	C	T	56133410	3	4	230	1	0	0	0	0	1	0	0	0	18153	652	23	1	296	1	ZNF784	19	56133410	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	621226	56133410	2995573	513	116687											
PEG3	5178	broad.mit.edu	37	chr19	57326838	57326838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagggcttctccctatcaTgaatcttctggtgctcagtg	10	11	5	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:57326838T>C	uc002qnu.2	-	7	3323	c.2972A>G	c.(2971-2973)CAT>CGT	p.H991R	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H962R|PEG3_uc002qnv.2_Missense_Mutation_p.H991R|PEG3_uc002qnw.2_Missense_Mutation_p.H867R|PEG3_uc002qnx.2_Missense_Mutation_p.H865R|PEG3_uc010etr.2_Missense_Mutation_p.H991R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	991	C2H2-type 5.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCCCTATCATGAATCTTCTG	0.502													C	57326838	T	C	57326838	3	2	230	1	0	0	0	0	1	0	0	0	11720	1464	51	3	1798	3	PEG3	19	57326838	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1193428	57326838	1802145	514	116688											
ZBTB45	84878	broad.mit.edu	37	chr19	59028678	59028678	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcgagcgcgggcgatAatctgcgtgcattcgtcgat	16	10	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:59028678A>G	uc002qtd.2	-	2	655	c.363T>C	c.(361-363)ATT>ATC	p.I121I	ZBTB45_uc002qte.2_Silent_p.I121I|ZBTB45_uc002qtf.2_Silent_p.I121I	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0165)|Lung(386;0.18)		CGCGGGCGATAATCTGCGTGC	0.692											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	59028678	A	G	59028678	2	3	230	1	0	0	0	0	0	0	0	1	17543	358	13	3		3	ZBTB45	19	59028678	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	1701840	59028678	100305	515	116689											
MZF1	7593	broad.mit.edu	37	chr19	59081816	59081817	+	Frame_Shift_Del	DEL	CA	CA	-													aggctctggagttggaggctCagtttcaggtaggggctgga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr19:59081815_59081816TCA>T	uc002qto.3	-	2	1036_1037	c.475_476TGA>A	c.(475-477)gagfs	p.E159fs	LOC100131691_uc002qtm.3_Non-coding_Transcript|MZF1_uc002qtn.3_Frame_Shift_Del_p.E159fs|MZF1_uc010euu.1_Frame_Shift_Del_p.E200fs	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	159					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)		AGTTGGAGGCTCAGTTTCAGGT	0.594													-	59081817	CA	-	59081816	7	5	230	1	0	1	0	1	0	0	0	0	10108	835	29	0	1745	0	MZF1	19	59081816	Frame_Shift_Del	DEL	CA	TCGA-D7-A4YY-01A-11D-A25D-08	53138	59081816	47167	516	116690											
STK35	140901	broad.mit.edu	37	chr20	2097952	2097952	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgaaagatatgttagcTgctaacccacaggaccggcc	9	12	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:2097952T>C	uc010gak.2	+	3	1533	c.1533T>C	c.(1531-1533)GCT>GCC	p.A511A	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Silent_p.A378A	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	511	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						ATATGTTAGCTGCTAACCCAC	0.483													C	2097952	T	C	2097952	2	2	230	1	0	0	0	0	0	0	0	1	15300	1567	55	3		3	STK35	20	2097952	Silent	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08		2097952	60927568	517	116691											
TGM3	7053	broad.mit.edu	37	chr20	2297997	2297997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccaccctgacttgcagcGctgcggtctttggggattcc	12	15	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:2297997G>A	uc002wfx.3	+	7	946	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	283					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			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	GACTTGCAGCGCTGCGGTCTT	0.577													A	2297997	G	A	2297997	2	1	230	1	0	0	0	0	0	0	0	1	15828	1101	38	1		1	TGM3	20	2297997	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	200045	2297997	60727523	518	116692											
CENPB	1059	broad.mit.edu	37	chr20	3766349	3766349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccttggagttggcggtgTagtcgcagggcaggccggct	17	11	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:3766349T>C	uc002wjk.2	-	1	989	c.782A>G	c.(781-783)TAC>TGC	p.Y261C	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	261					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						GTTGGCGGTGTAGTCGCAGGG	0.682													C	3766349	T	C	3766349	3	2	230	1	0	0	0	0	1	0	0	0	3227	1638	57	3	1021	3	CENPB	20	3766349	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	1468352	3766349	59259171	519	116693											
ADRA1D	146	broad.mit.edu	37	chr20	4228498	4228498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggggtcactcaccgagCggcaggacaaagaagaaagg	16	8	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:4228498C>T	uc002wkr.2	-	1	1162	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	369	Helical; Name=6; (By similarity).				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				0					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)	ACTCACCGAGCGGCAGGACAA	0.627													T	4228498	C	T	4228498	2	4	230	1	0	0	0	0	0	0	0	1	336	755	27	1		1	ADRA1D	20	4228498	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	462149	4228498	58797022	520	116694											
CHGB	1114	broad.mit.edu	37	chr20	5903414	5903415	+	Frame_Shift_Ins	INS	-	-	A													gaaagcaggcttcagctataINSaaaaaagaggagttagtggc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:5903413_5903414T>TA	uc002wmg.3	+	3	929_930	c.623_624T>TA	c.(622-624)atafs	p.I208fs	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	208						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GCTTCAGCTATAAAAAAAGAGG	0.49													A	5903415	-	A	5903414	7	5	230	1	0	1	1	0	0	0	0	0	3339	352	13	0	638	0	CHGB	20	5903414	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1674916	5903414	57122106	521	116695											
ZNF133	7692	broad.mit.edu	37	chr20	18296519	18296519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagaagtcagctgtcGtgagacaccagaggacacac	11	12	2	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:18296519G>A	uc010gcq.2	+	5	1329	c.1024G>A	c.(1024-1026)GTG>ATG	p.V342M	ZNF133_uc010zrv.1_Missense_Mutation_p.V345M|ZNF133_uc010zrw.1_Missense_Mutation_p.V279M|ZNF133_uc010gcr.2_Missense_Mutation_p.V342M|ZNF133_uc010zrx.1_Missense_Mutation_p.V247M|ZNF133_uc002wql.3_Missense_Mutation_p.V341M|ZNF133_uc010gcs.2_Missense_Mutation_p.V341M|ZNF133_uc010zry.1_Missense_Mutation_p.V247M|ZNF133_uc002wqm.2_Missense_Mutation_p.V342M	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	342	C2H2-type 5.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						GTCAGCTGTCGTGAGACACCA	0.552													A	18296519	G	A	18296519	3	1	230	1	0	0	0	0	1	0	0	0	17720	1145	40	1	1031	1	ZNF133	20	18296519	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	12393105	18296519	44729001	522	116696											
NKX2-2	4821	broad.mit.edu	37	chr20	21492887	21492887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgcgtgggcgtgaggcGgatgaggctggccaggtgtt	20	8	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:21492887G>A	uc002wsi.2	-	2	853	c.496C>T	c.(496-498)CGC>TGC	p.R166C		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	166	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						GGCGTGAGGCGGATGAGGCTG	0.652													A	21492887	G	A	21492887	3	1	230	1	0	0	0	0	1	0	0	0	10450	1116	39	1	329	1	NKX2-2	20	21492887	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	3196368	21492887	41532633	523	116697											
SSTR4	6754	broad.mit.edu	37	chr20	23016142	23016142	+	Frame_Shift_Del	DEL	C	C	-													tgagcgccccctcgacgctgCcccccgggggcgaggaaggg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:23016141_23016141GC>G	uc002wsr.2	+	0	85	c.21_21GC>G	c.(19-21)ctgfs	p.L7fs		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	7					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)					CCTCGACGCTGCCCCCCGGGG	0.791													-	23016142	C	-	23016142	7	5	230	1	0	1	0	1	0	0	0	0	15199	739	26	0	24	0	SSTR4	20	23016142	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	1523255	23016142	40009378	524	116698											
C20orf112	140688	broad.mit.edu	37	chr20	31044128	31044128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggcagggtcgccctgCgtgctgctcgacgtggatgg	19	10	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:31044128C>T	uc002wxu.3	-	3	337	c.180G>A	c.(178-180)ACG>ACA	p.T60T	C20orf112_uc010gec.2_5'UTR	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	60											0						GGTCGCCCTGCGTGCTGCTCG	0.647													T	31044128	C	T	31044128	2	4	230	1	0	0	0	0	0	0	0	1	2081	755	27	1		1	C20orf112	20	31044128	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	8027986	31044128	31981392	525	116699											
RALGAPB	57148	broad.mit.edu	37	chr20	37198625	37198625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtagtctgggtggaacGctatgatgatataggtactg	13	5	2	2	rs147384010	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:37198625G>A	uc002xiw.2	+	27	4306	c.4049G>A	c.(4048-4050)CGC>CAC	p.R1350H	RALGAPB_uc002xix.2_Missense_Mutation_p.R1347H|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.R1129H	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1350	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TGGGTGGAACGCTATGATGAT	0.468													A	37198625	G	A	37198625	3	1	230	1	0	0	0	0	1	0	0	0	13015	1087	38	1	4151	1	RALGAPB	20	37198625	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	6154497	37198625	25826895	526	116700											
ZSWIM1	90204	broad.mit.edu	37	chr20	44512182	44512182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatccccgaaagccccaaActggagcagctggtagaatc	9	14	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:44512182A>G	uc010ghi.2	+	2	1064	c.951A>G	c.(949-951)AAA>AAG	p.K317K	ZSWIM1_uc010zxh.1_Silent_p.K190K	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	317							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				AAAGCCCCAAACTGGAGCAGC	0.572													G	44512182	A	G	44512182	2	3	230	1	0	0	0	0	0	0	0	1	18237	40	2	3		3	ZSWIM1	20	44512182	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	7313557	44512182	18513338	527	116701											
CDH22	64405	broad.mit.edu	37	chr20	44806663	44806663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgacaaaggccgtggTgttgcaggactggatggtgc	17	8	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:44806663T>C	uc002xrm.2	-	10	2238	c.1837A>G	c.(1837-1839)ACC>GCC	p.T613A	CDH22_uc010ghk.1_Missense_Mutation_p.T613A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	613	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AAGGCCGTGGTGTTGCAGGAC	0.652													C	44806663	T	C	44806663	3	2	230	1	0	0	0	0	1	0	0	0	3107	1696	59	3	657	3	CDH22	20	44806663	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	294481	44806663	18218857	528	116702											
ADNP	23394	broad.mit.edu	37	chr20	49508906	49508906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcaatttctctcctgGtgggatagggctgtttgttg	12	8	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:49508906G>A	uc002xvt.1	-	5	2690	c.2345C>T	c.(2344-2346)ACC>ATC	p.T782I	ADNP_uc002xvu.1_Missense_Mutation_p.T782I	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	782	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TTCTCTCCTGGTGGGATAGGG	0.418													A	49508906	G	A	49508906	3	1	230	1	0	0	0	0	1	0	0	0	323	1261	44	4	967	4	ADNP	20	49508906	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	4702243	49508906	13516614	529	116703											
NFATC2	4773	broad.mit.edu	37	chr20	50133423	50133423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggctgcacctcgatcCgcagctcgtaagagcctgac	12	14	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:50133423C>T	uc002xwd.2	-	3	1452	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	NFATC2_uc002xwc.2_Missense_Mutation_p.R411Q|NFATC2_uc010zyv.1_Missense_Mutation_p.R192Q|NFATC2_uc010zyw.1_Missense_Mutation_p.R192Q|NFATC2_uc010zyx.1_Missense_Mutation_p.R391Q|NFATC2_uc010zyy.1_Missense_Mutation_p.R192Q|NFATC2_uc010zyz.1_Missense_Mutation_p.R192Q|NFATC2_uc002xwe.2_Missense_Mutation_p.R391Q	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	411	RHD.				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			ovary(2)	2	Hepatocellular(150;0.248)					CACCTCGATCCGCAGCTCGTA	0.577													T	50133423	C	T	50133423	3	4	230	1	0	0	0	0	1	0	0	0	10362	652	23	1	1625	1	NFATC2	20	50133423	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	624517	50133423	12892097	530	116704											
HRH3	11255	broad.mit.edu	37	chr20	60791510	60791510	+	Frame_Shift_Del	DEL	C	C	-													tgggtgaagccacggagccgCccccaccgccacccccgagg							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:60791510delC	uc002ycf.2	-	3	1187	c.890delG	c.(889-891)GGCfs	p.G297fs	HRH3_uc002ycg.2_Intron|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Frame_Shift_Del_p.G297fs	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	297	Poly-Gly.|Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CACGGAGCCGCCCCCACCGCC	0.736													-	60791510	C	-	60791510	7	5	230	1	0	1	0	1	0	0	0	0	7357	739	26	0	451	0	HRH3	20	60791510	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	10658087	60791510	2234010	531	116705											
DIDO1	11083	broad.mit.edu	37	chr20	61512787	61512787	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgggccatggagaccccGacggcggccctctgctgcct	14	15	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:61512787G>A	uc002ydr.1	-	16	4785	c.4521C>T	c.(4519-4521)GTC>GTT	p.V1507V	DIDO1_uc002yds.1_Silent_p.V1507V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1507					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TGGAGACCCCGACGGCGGCCC	0.572													A	61512787	G	A	61512787	2	1	230	1	0	0	0	0	0	0	0	1	4522	1045	37	1		1	DIDO1	20	61512787	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	721277	61512787	1512733	532	116706											
PRIC285	85441	broad.mit.edu	37	chr20	62200595	62200595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatggggcccgaggccaCgctgctgcggttgaactcca	15	12	0	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr20:62200595C>T	uc002yfm.2	-	5	1886	c.994G>A	c.(994-996)GTG>ATG	p.V332M	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	332					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCCGAGGCCACGCTGCTGCGG	0.662													T	62200595	C	T	62200595	3	4	230	1	0	0	0	0	1	0	0	0	12485	536	19	1	7042	1	PRIC285	20	62200595	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	687808	62200595	824925	533	116707											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744257	31744257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagagtaagtcgtcttgCaaggactgcagagcaaggag	13	9	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:31744257C>T	uc002ynz.3	-	1	301	c.275G>A	c.(274-276)TGC>TAC	p.C92Y		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	92	5 X 10 AA approximate repeats.|5.					intermediate filament					0						AGTCGTCTTGCAAGGACTGCA	0.612													T	31744257	C	T	31744257	3	4	230	1	0	0	0	0	1	0	0	0	8523	710	25	2	256	2	KRTAP13-2	21	31744257	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08		31744257	16385638	534	116708											
KRTAP6-3	337968	broad.mit.edu	37	chr21	31964786	31964786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcaacaaccaacaccAtgtgtggcagctactacaga	7	13	1	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:31964786A>T	uc002yom.2	+	1	28	c.22A>T	c.(22-24)ATG>TTG	p.M8L		NM_181605	NP_853636			keratin associated protein 6-3												0						AACCAACACCATGTGTGGCAG	0.353													T	31964786	A	T	31964786	3	4	230	1	0	0	0	0	1	0	0	0	8571	217	8	5	24	5	KRTAP6-3	21	31964786	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	220529	31964786	16165109	535	116709											
ITSN1	6453	broad.mit.edu	37	chr21	35174739	35174740	+	Frame_Shift_Ins	INS	-	-	G													ctttcctggtggaggttaaaINSggggaatgggtaagtgttgc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:35174739_35174740insG	uc002yta.1	+	20	2578_2579	c.2310_2311insG	c.(2308-2313)AAAGGGfs	p.K770fs	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Intron|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Frame_Shift_Ins_p.K770fs|ITSN1_uc010gmi.2_Frame_Shift_Ins_p.K733fs|ITSN1_uc010gmj.2_Intron|ITSN1_uc002ysy.2_Intron|ITSN1_uc002ysx.2_Intron|ITSN1_uc002ytb.1_Intron|ITSN1_uc002ytc.1_Intron|ITSN1_uc002ytd.2_Intron|ITSN1_uc010gmk.2_Frame_Shift_Ins_p.K733fs|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Frame_Shift_Ins_p.K704fs|ITSN1_uc002ytf.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	770_771	SH3 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			ovary(3)|skin(1)	4						TGGAGGTTAAAGGGGAATGGGT	0.371													G	35174740	-	G	35174739	7	5	230	1	0	1	1	0	0	0	0	0	7926	69	3	0	2384	0	ITSN1	21	35174739	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	3209953	35174739	12955156	536	116710	557	2									
ITSN1	6453	broad.mit.edu	37	chr21	35174740	35174741	+	Frame_Shift_Ins	INS	-	-	G													tttcctggtggaggttaaagINSgggaatgggtaagtgttgcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:35174739_35174740A>AG	uc002yta.1	+	19	2578_2579	c.2310_2311A>AG	c.(2308-2313)aaagggfs	p.K770fs	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Intron|ITSN1_uc002ysy.3_Intron|ITSN1_uc002ysx.3_Intron|ITSN1_uc002yth.4_Intron|ITSN1_uc002ysz.3_Intron|ITSN1_uc010gmg.3_Intron|ITSN1_uc010gmh.3_Intron|ITSN1_uc002ysw.3_Frame_Shift_Ins_p.K770fs|ITSN1_uc010gmi.3_Frame_Shift_Ins_p.K733fs|ITSN1_uc002ytb.1_Intron|ITSN1_uc002ytc.1_Intron|ITSN1_uc010gmk.3_Frame_Shift_Ins_p.K733fs|ITSN1_uc010gml.3_Intron|ITSN1_uc002ytd.3_Intron|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.3_Frame_Shift_Ins_p.K704fs|ITSN1_uc021wip.1_Intron|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	770	SH3 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	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			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						TGGAGGTTAAAGGGGAATGGGT	0.371													G	35174741	-	G	35174740	7	5	230	1	0	1	1	0	0	0	0	0	7926	1000	35	0	2385	0	ITSN1	21	35174740	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	1	35174740	12955155	537	116711	557	2									
ITSN1	6453	broad.mit.edu	37	chr21	35260498	35260503	+	In_Frame_Del	DEL	AAGACC	AAGACC	-													ccgtgtggcggacatcaagaAagaccagggctccaaaggtc					rs145593879	byFrequency	TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:35260497_35260502AAAGACC>A	uc002yta.1	+	39	5327_5332	c.5059_5064AAAGACC>A	c.(5059-5064)aaagac>A	p.KD1687del	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_In_Frame_Del_p.KD1682del|ITSN1_uc002ytj.2_In_Frame_Del_p.KD1626del|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1687					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	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			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						GGACATCAAGAAAGACCAGGGCTCCA	0.529													-	35260503	AAGACC	-	35260498	7	5	230	1	0	1	0	1	0	0	0	0	7926	14	1	0	5220	0	ITSN1	21	35260498	In_Frame_Del	DEL	AAGACC	TCGA-D7-A4YY-01A-11D-A25D-08	85758	35260498	12869397	538	116712											
HLCS	3141	broad.mit.edu	37	chr21	38308768	38308769	+	Frame_Shift_Ins	INS	-	-	C													ctggcaaagaacagcttctcINSccccgcgagttccaaaaggc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:38308767_38308768T>TC	uc010gnb.3	-	4	2391_2392	c.977_978A>GA	c.(976-978)ggafs	p.G326fs	HLCS_uc021wjb.1_Frame_Shift_Ins_p.G326fs|HLCS_uc002yvs.3_Frame_Shift_Ins_p.G326fs|HLCS_uc010gnc.2_Frame_Shift_Ins_p.G473fs	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	326					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)	GAACAGCTTCTCCCCCGCGAGT	0.545													C	38308769	-	C	38308768	7	5	230	1	0	1	1	0	0	0	0	0	7213	855	30	0	1235	0	HLCS	21	38308768	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	3048270	38308768	9821127	539	116713											
DSCAM	1826	broad.mit.edu	37	chr21	41514615	41514615	+	Frame_Shift_Del	DEL	G	G	-													gctatggcttggacattttcGggggggtaactgggcactga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:41514614_41514614CG>C	uc002yyq.1	-	17	3729	c.3277_3277CG>G	c.(3277-3279)gaafs	p.E1093fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1093	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	p.E1093K(2)		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)				TGGACATTTTCGGGGGGGTAA	0.408													-	41514615	G	-	41514615	7	5	230	1	0	1	0	1	0	0	0	0	4768	1103	39	0	2826	0	DSCAM	21	41514615	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	3205847	41514615	6615280	540	116714											
DSCAM	1826	broad.mit.edu	37	chr21	41648155	41648155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cattgctgagaacttggattCggccatttagggcaattggc	12	8	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:41648155C>A	uc002yyq.1	-	11	2677	c.2225G>T	c.(2224-2226)CGA>CTA	p.R742L	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	742	Extracellular (Potential).|Ig-like C2-type 8.				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTTGGATTCGGCCATTTAG	0.512													A	41648155	C	A	41648155	3	1	230	1	0	0	0	0	1	0	0	0	4768	884	31	5	3905	5	DSCAM	21	41648155	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	133540	41648155	6481740	541	116715											
ABCG1	9619	broad.mit.edu	37	chr21	43711671	43711671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgcagccgtccgacgccGtgcgctttgtgctgtttgcc	13	15	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:43711671G>A	uc002zaq.2	+	13	1700	c.1594G>A	c.(1594-1596)GTG>ATG	p.V532M	ABCG1_uc002zan.2_Missense_Mutation_p.V522M|ABCG1_uc002zam.2_Missense_Mutation_p.V498M|ABCG1_uc002zao.2_Missense_Mutation_p.V517M|ABCG1_uc002zap.2_Missense_Mutation_p.V520M|ABCG1_uc002zar.2_Missense_Mutation_p.V531M|ABCG1_uc011aev.1_Missense_Mutation_p.V543M|ABCG1_uc010gpb.1_Missense_Mutation_p.R172H	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	532	Extracellular (Potential).|ABC transmembrane type-2.				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			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GTCCGACGCCGTGCGCTTTGT	0.662													A	43711671	G	A	43711671	3	1	230	1	0	0	0	0	1	0	0	0	68	1145	40	1	1812	1	ABCG1	21	43711671	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2063516	43711671	4418224	542	116716											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999669	45999669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgggagcacgcggggcGgcagaggagggacacgcagg	22	10	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:45999669G>A	uc002zfl.1	-	1	813	c.787C>T	c.(787-789)CGC>TGC	p.R263C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	keratin associated protein 10-5	263						keratin filament					0						CACGCGGGGCGGCAGAGGAGG	0.711													A	45999669	G	A	45999669	3	1	230	1	0	0	0	0	1	0	0	0	8512	1116	39	1	32	1	KRTAP10-5	21	45999669	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2287998	45999669	2130226	543	116717											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000448	46000448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagacggacatggtgcacGcggccatgctggggtgggga	19	9	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:46000448G>A	uc002zfl.1	-	1	34	c.8C>T	c.(7-9)GCG>GTG	p.A3V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	keratin associated protein 10-5	3						keratin filament					0						CATGGTGCACGCGGCCATGCT	0.527													A	46000448	G	A	46000448	3	1	230	1	0	0	0	0	1	0	0	0	8512	1087	38	1	811	1	KRTAP10-5	21	46000448	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	779	46000448	2129447	544	116718											
PCNT	5116	broad.mit.edu	37	chr21	47858188	47858188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagctggagctgagcAgagccgtgtctaagcttgag	16	7	1	4			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr21:47858188A>G	uc002zji.3	+	41	9318	c.9211A>G	c.(9211-9213)AGA>GGA	p.R3071G	PCNT_uc002zjj.2_Missense_Mutation_p.R2874G	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3071	Interaction with NEK2.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGAGCTGAGCAGAGCCGTGTC	0.542													G	47858188	A	G	47858188	3	3	230	1	0	0	0	0	1	0	0	0	11590	180	7	3	9373	3	PCNT	21	47858188	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	1857740	47858188	271707	545	116719											
DGCR14	8220	broad.mit.edu	37	chr22	19124873	19124873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctgtccacgtagggcGtttccgacccttcaactctc	9	15	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:19124873G>A	uc002zou.2	-	8	1035	c.998C>T	c.(997-999)ACG>ATG	p.T333M	DGCR14_uc002zot.2_Missense_Mutation_p.T254M|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	333					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					CACGTAGGGCGTTTCCGACCC	0.597													A	19124873	G	A	19124873	3	1	230	1	0	0	0	0	1	0	0	0	4460	1145	40	1	444	1	DGCR14	22	19124873	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08		19124873	32179693	546	116720											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130375	20130375	+	Frame_Shift_Del	DEL	G	G	-													acctccctgactatgggccaGggggcctgcatgcagcctac							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:20130375delG	uc002zrq.2	+	10	1328	c.1222delG	c.(1222-1224)GGGfs	p.G408fs	ZDHHC8_uc002zrr.1_Frame_Shift_Del_p.G408fs|ZDHHC8_uc010gsa.2_Frame_Shift_Del_p.G214fs	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	408	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CTATGGGCCAGGGGGCCTGCA	0.672													-	20130375	G	-	20130375	7	5	230	1	0	1	0	1	0	0	0	0	17618	1000	35	0	1260	0	ZDHHC8	22	20130375	Frame_Shift_Del	DEL	G	TCGA-D7-A4YY-01A-11D-A25D-08	1005502	20130375	31174191	547	116721											
HIC2	23119	broad.mit.edu	37	chr22	21799578	21799578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccagctgcccgagttgGcagccctctgccgccgcaaa	10	18	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:21799578G>A	uc002zur.3	+	3	624	c.394G>A	c.(394-396)GCA>ACA	p.A132T	HIC2_uc002zus.3_Missense_Mutation_p.A132T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	132					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCCCGAGTTGGCAGCCCTCTG	0.692													A	21799578	G	A	21799578	3	1	230	1	0	0	0	0	1	0	0	0	7102	1203	42	2	400	2	HIC2	22	21799578	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1669203	21799578	29504988	548	116722											
CYTSA	23384	broad.mit.edu	37	chr22	24734371	24734371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtaccaaaccctgctgcaGctgcaattcctcgaacgccc	7	16	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:24734371G>A	uc002zzw.2	+	10	2885	c.2578G>A	c.(2578-2580)GCT>ACT	p.A860T	CYTSA_uc002zzv.3_Missense_Mutation_p.A860T|CYTSA_uc011ajq.1_Missense_Mutation_p.A860T	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	860	Poly-Ala.				cell cycle|cell division						0						CCCTGCTGCAGCTGCAATTCC	0.403													A	24734371	G	A	24734371	3	1	230	1	0	0	0	0	1	0	0	0	4209	971	34	2	2608	2	CYTSA	22	24734371	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2934793	24734371	26570195	549	116723											
MN1	4330	broad.mit.edu	37	chr22	28193118	28193118	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcgccgctgctgctcgtCggggtgcggacctgctccag	18	14	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:28193118C>T	uc003adj.2	-	1	4369	c.3414G>A	c.(3412-3414)CCG>CCA	p.P1138P		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1138							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						TGCTGCTCGTCGGGGTGCGGA	0.687			T	ETV6	AML|meningioma								T	28193118	C	T	28193118	2	4	230	1	0	0	0	0	0	0	0	1	9673	871	31	1		1	MN1	22	28193118	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3458747	28193118	23111448	550	116724											
MN1	4330	broad.mit.edu	37	chr22	28193441	28193441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactgtccgacttggcccCgccgtccagggacccaatga	10	16	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:28193441C>T	uc003adj.2	-	1	4046	c.3091G>A	c.(3091-3093)GGG>AGG	p.G1031R		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1031							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GACTTGGCCCCGCCGTCCAGG	0.647			T	ETV6	AML|meningioma								T	28193441	C	T	28193441	3	4	230	1	0	0	0	0	1	0	0	0	9673	652	23	1	879	1	MN1	22	28193441	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	323	28193441	23111125	551	116725											
THOC5	8563	broad.mit.edu	37	chr22	29907262	29907262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacagctccttgtagcaCacattgacttcgccctccat	5	17	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:29907262C>T	uc003afr.2	-	20	2156	c.1821G>A	c.(1819-1821)GTG>GTA	p.V607V	THOC5_uc003afq.2_Silent_p.V268V|THOC5_uc003afs.2_Silent_p.V607V|THOC5_uc003aft.2_Silent_p.V607V|THOC5_uc003afu.2_Silent_p.V607V|THOC5_uc010gvo.2_Silent_p.V351V	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	607					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						CCTTGTAGCACACATTGACTT	0.592													T	29907262	C	T	29907262	2	4	230	1	0	0	0	0	0	0	0	1	15865	465	17	4		4	THOC5	22	29907262	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1713821	29907262	21397304	552	116726											
MTMR3	8897	broad.mit.edu	37	chr22	30414048	30414048	+	Frame_Shift_Del	DEL	C	C	-													caggcaccagccctgatgatCcccccctgagccggtgagcc							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:30414047_30414047TC>T	uc003agv.4	+	15	2134	c.1806_1806TC>T	c.(1804-1806)gatfs	p.D602fs	MTMR3_uc003agu.4_Frame_Shift_Del_p.D602fs|MTMR3_uc003agw.4_Frame_Shift_Del_p.D602fs	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	602					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.D602D(1)		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)			GCCCTGATGATCCCCCCCTGA	0.622													-	30414048	C	-	30414048	7	5	230	1	0	1	0	1	0	0	0	0	9945	855	30	0	1861	0	MTMR3	22	30414048	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	506786	30414048	20890518	553	116727											
SLC5A4	6527	broad.mit.edu	37	chr22	32629011	32629011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccacacaggcagcgcTgcacaatgacctgccgggag	12	15	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:32629011T>C	uc003ami.2	-	9	898	c.896A>G	c.(895-897)CAG>CGG	p.Q299R		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	299	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CAGGCAGCGCTGCACAATGAC	0.532													C	32629011	T	C	32629011	3	2	230	1	0	0	0	0	1	0	0	0	14667	1580	55	3	1111	3	SLC5A4	22	32629011	Missense_Mutation	SNP	T	TCGA-D7-A4YY-01A-11D-A25D-08	2214963	32629011	18675555	554	116728											
MCM5	4174	broad.mit.edu	37	chr22	35802675	35802675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaccaacattgccatgCgccctggcctcgagggctat	9	17	1	0	rs142715814		TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:35802675C>T	uc003anu.3	+	5	647	c.553C>T	c.(553-555)CGC>TGC	p.R185C	MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R142C|MCM5_uc010gws.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	185					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			ovary(1)	1						CATTGCCATGCGCCCTGGCCT	0.627													T	35802675	C	T	35802675	3	4	230	1	0	0	0	0	1	0	0	0	9390	768	27	1	567	1	MCM5	22	35802675	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3173664	35802675	15501891	555	116729											
MCM5	4174	broad.mit.edu	37	chr22	35811891	35811891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagggacccttcgtccCggaatttcatcatggagggc	13	10	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:35811891C>T	uc003anu.3	+	10	1367	c.1273C>T	c.(1273-1275)CGG>TGG	p.R425W	MCM5_uc010gwr.2_Missense_Mutation_p.R234W|MCM5_uc003anv.3_Missense_Mutation_p.R382W|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.R209W	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	425	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			ovary(1)	1						CCCTTCGTCCCGGAATTTCAT	0.592													T	35811891	C	T	35811891	3	4	230	1	0	0	0	0	1	0	0	0	9390	643	23	1	1307	1	MCM5	22	35811891	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	9216	35811891	15492675	556	116730											
MB	4151	broad.mit.edu	37	chr22	36013257	36013258	+	Frame_Shift_Ins	INS	-	-	C													ggatgtcagcctccaccttcINSccccagacgttcagcaccaa							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:36013256_36013257T>TC	uc003anz.3	-	0	128_129	c.48_49A>GA	c.(46-51)gggaagfs	p.G16fs	MB_uc003aoa.3_Frame_Shift_Ins_p.G16fs|MB_uc003aob.3_Frame_Shift_Ins_p.G16fs	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	16							heme binding|oxygen transporter activity			lung(1)	1						GCCTCCACCTTCCCCCAGACGT	0.569													C	36013258	-	C	36013257	7	5	230	1	0	1	1	0	0	0	0	0	9341	842	30	0	428	0	MB	22	36013257	Frame_Shift_Ins	INS	-	TCGA-D7-A4YY-01A-11D-A25D-08	201366	36013257	15291309	557	116731											
CBX6	23466	broad.mit.edu	37	chr22	39267747	39267747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggatgttctcctcgggCtcccaagtgctgtacctgcc	10	15	1	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:39267747C>T	uc003awl.2	-	3	192	c.129G>A	c.(127-129)GAG>GAA	p.E43E	CBX6_uc003awm.1_Silent_p.E43E	NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	43	Chromo.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					TCTCCTCGGGCTCCCAAGTGC	0.622													T	39267747	C	T	39267747	2	4	230	1	0	0	0	0	0	0	0	1	2722	796	28	2		2	CBX6	22	39267747	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	3254490	39267747	12036819	558	116732											
L3MBTL2	83746	broad.mit.edu	37	chr22	41609927	41609927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgtggtatcgtgggtaCaagggaagccttcttctcca	13	8	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chr22:41609927C>T	uc003azo.2	+	3	347	c.293C>T	c.(292-294)ACA>ATA	p.T98I	L3MBTL2_uc010gyi.1_Missense_Mutation_p.T7I|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	98	FCS-type.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						ATCGTGGGTACAAGGGAAGCC	0.507													T	41609927	C	T	41609927	3	4	230	1	0	0	0	0	1	0	0	0	8592	478	17	4	303	4	L3MBTL2	22	41609927	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	2342180	41609927	9694639	559	116733											
P2RY8	286530	broad.mit.edu	37	chrX	1584492	1584492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaggctctcgcggcgCgtgtccagggtgtctctggg	18	10	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:1584492C>T	uc004cpz.2	-	2	1208	c.960G>A	c.(958-960)ACG>ACA	p.T320T		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	320	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		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)				TCTCGCGGCGCGTGTCCAGGG	0.667			T	CRLF2	B-ALL|Downs associated ALL								T	1584492	C	T	1584492	2	4	230	1	0	0	0	0	0	0	0	1	11355	755	27	1		1	P2RY8	23	1584492	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08		1584492	153686068	560	116734											
MSL3	10943	broad.mit.edu	37	chrX	11779022	11779022	+	Frame_Shift_Del	DEL	C	C	-													gactctgtcttaaaaggcctCcccactgaagaaaaagatga							TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:11779022delC	uc004cuw.2	+	4	453	c.348delC	c.(346-348)CTCfs	p.L116fs	MSL3_uc004cuv.1_Frame_Shift_Del_p.L116fs|MSL3_uc004cux.2_Frame_Shift_Del_p.L57fs|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Frame_Shift_Del_p.L104fs|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	116					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			ovary(1)	1						TAAAAGGCCTCCCCACTGAAG	0.423													-	11779022	C	-	11779022	7	5	230	1	0	1	0	1	0	0	0	0	9879	842	30	0	362	0	MSL3	23	11779022	Frame_Shift_Del	DEL	C	TCGA-D7-A4YY-01A-11D-A25D-08	10194530	11779022	143491538	561	116735											
FANCB	2187	broad.mit.edu	37	chrX	14868779	14868779	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcttcaccacaaagAggaacaagacattccttcta	4	11	4	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:14868779A>C	uc004cwg.1	-	7	1612	c.1344T>G	c.(1342-1344)CCT>CCG	p.P448P	FANCB_uc004cwh.1_Silent_p.P448P	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	448					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					CACCACAAAGAGGAACAAGAC	0.299								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	14868779	A	C	14868779	2	2	230	1	0	0	0	0	0	0	0	1	5663	291	11	5		5	FANCB	23	14868779	Silent	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	3089757	14868779	140401781	562	116736											
CHST7	56548	broad.mit.edu	37	chrX	46434041	46434041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcgaggacaccgcctgCgagcgcagctgcccacccgt	12	18	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:46434041C>T	uc004dgt.2	+	1	850	c.675C>T	c.(673-675)TGC>TGT	p.C225C		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	225	Lumenal (Potential).				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)	3						ACACCGCCTGCGAGCGCAGCT	0.697													T	46434041	C	T	46434041	2	4	230	1	0	0	0	0	0	0	0	1	3409	776	27	1		1	CHST7	23	46434041	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	31565262	46434041	108836519	563	116737											
FTSJ1	24140	broad.mit.edu	37	chrX	48337473	48337473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttaagggctgccctgcGgacctagtggtgtgtgacgg	15	10	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:48337473G>A	uc004djo.1	+	5	653	c.330G>A	c.(328-330)GCG>GCA	p.A110A	FTSJ1_uc004djl.2_Silent_p.A110A|FTSJ1_uc004djm.2_Silent_p.A110A|FTSJ1_uc004djn.1_Silent_p.A110A|FTSJ1_uc004djp.1_Silent_p.A110A|FTSJ1_uc011mlw.1_5'UTR	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	110					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0						GCTGCCCTGCGGACCTAGTGG	0.607													A	48337473	G	A	48337473	2	1	230	1	0	0	0	0	0	0	0	1	6087	1103	39	1		1	FTSJ1	23	48337473	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	1903432	48337473	106933087	564	116738											
NUDT10	170685	broad.mit.edu	37	chrX	51076061	51076061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttaggccggctcctgggcGtcttcgaacagaaccaggac	13	12	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:51076061G>A	uc004dph.2	+	2	464	c.244G>A	c.(244-246)GTC>ATC	p.V82I	NUDT10_uc004dpi.3_Missense_Mutation_p.V82I	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	82	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					GCTCCTGGGCGTCTTCGAACA	0.627													A	51076061	G	A	51076061	3	1	230	1	0	0	0	0	1	0	0	0	10726	1145	40	1	246	1	NUDT10	23	51076061	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	2738588	51076061	104194499	565	116739											
FOXO4	4303	broad.mit.edu	37	chrX	70320595	70320595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggttcacaacgaggccaCcggcaaaagctcttggtgga	12	11	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:70320595C>T	uc004dys.1	+	2	868	c.515C>T	c.(514-516)ACC>ATC	p.T172I	FOXO4_uc010nkz.2_Missense_Mutation_p.T172I|FOXO4_uc004dyt.1_Missense_Mutation_p.T117I	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	172	Fork-head.				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AACGAGGCCACCGGCAAAAGC	0.517											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70320595	C	T	70320595	3	4	230	1	0	0	0	0	1	0	0	0	6025	507	18	4	521	4	FOXO4	23	70320595	Missense_Mutation	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	19244534	70320595	84949965	566	116740											
PABPC5	140886	broad.mit.edu	37	chrX	90690958	90690958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgttttacttattttctGcttttgggaacattctgtcc	6	10	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:90690958G>T	uc004efg.2	+	2	822	c.382G>T	c.(382-384)GCT>TCT	p.A128S	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	128	RRM 2.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						CTTATTTTCTGCTTTTGGGAA	0.448													T	90690958	G	T	90690958	3	4	230	1	0	0	0	0	1	0	0	0	11367	1319	46	5	384	5	PABPC5	23	90690958	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	20370363	90690958	64579602	567	116741											
ESX1	80712	broad.mit.edu	37	chrX	103495216	103495216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcgccatgggcggccagGgtggcacaggcgccatgggc	19	13	0	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:103495216G>T	uc004ely.2	-	4	972	c.914C>A	c.(913-915)CCC>CAC	p.P305H		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	305	7.|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			ovary(1)	1						GGGCGGCCAGGGTGGCACAGG	0.761													T	103495216	G	T	103495216	3	4	230	1	0	0	0	0	1	0	0	0	5263	1232	43	5	310	5	ESX1	23	103495216	Missense_Mutation	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	12804258	103495216	51775344	568	116742											
CHRDL1	91851	broad.mit.edu	37	chrX	110035370	110035370	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaacaacaacgaaaAgatgtatttcatgcctccca	6	9	1	3			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:110035370A>C	uc004eou.3	-	2	389	c.40T>G	c.(40-42)TTT>GTT	p.F14V	CHRDL1_uc004eov.2_Missense_Mutation_p.F8V|CHRDL1_uc004eow.2_Missense_Mutation_p.F14V|CHRDL1_uc010nps.2_Missense_Mutation_p.F14V|CHRDL1_uc004eot.2_Missense_Mutation_p.F14V|CHRDL1_uc011mss.1_Missense_Mutation_p.F8V|CHRDL1_uc004eox.3_Missense_Mutation_p.F8V	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	8					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						AACAACGAAAAGATGTATTTC	0.358													C	110035370	A	C	110035370	3	2	230	1	0	0	0	0	1	0	0	0	3373	72	3	5	1380	5	CHRDL1	23	110035370	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	6540154	110035370	45235190	569	116743											
CAPN6	827	broad.mit.edu	37	chrX	110491974	110491974	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgtagaggtggtggAggcggaatttgcggttcatc	17	6	1	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:110491974A>C	uc004epc.1	-	10	1475	c.1307T>G	c.(1306-1308)CTC>CGC	p.L436R	CAPN6_uc011msu.1_Missense_Mutation_p.L181R	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	436	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						GAGGTGGTGGAGGCGGAATTT	0.448													C	110491974	A	C	110491974	3	2	230	1	0	0	0	0	1	0	0	0	2630	304	11	5	634	5	CAPN6	23	110491974	Missense_Mutation	SNP	A	TCGA-D7-A4YY-01A-11D-A25D-08	456604	110491974	44778586	570	116744											
ELF4	2000	broad.mit.edu	37	chrX	129205342	129205342	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgatttcttcctaatgggGatgctggggtcagtgacagg	14	6	2	2			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:129205342G>A	uc004evd.3	-	6	970	c.585C>T	c.(583-585)ATC>ATT	p.I195I	ELF4_uc004eve.3_Silent_p.I195I	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	195	RUNX1-binding.				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			ovary(1)	1						TCCTAATGGGGATGCTGGGGT	0.587			T	ERG	AML								A	129205342	G	A	129205342	2	1	230	1	0	0	0	0	0	0	0	1	5056	1164	41	4		4	ELF4	23	129205342	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	18713368	129205342	26065218	571	116745											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220338	130220338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggcaggttgctaagcgCgtgtggaagtccagcccgga	16	10	0	1			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:130220338C>T	uc004evz.2	+	10	1662	c.1317C>T	c.(1315-1317)CGC>CGT	p.R439R	ARHGAP36_uc004ewa.2_Silent_p.R427R|ARHGAP36_uc004ewb.2_Silent_p.R408R|ARHGAP36_uc004ewc.2_Silent_p.R303R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						TTGCTAAGCGCGTGTGGAAGT	0.453													T	130220338	C	T	130220338	2	4	230	1	0	0	0	0	0	0	0	1	883	755	27	1		1	ARHGAP36	23	130220338	Silent	SNP	C	TCGA-D7-A4YY-01A-11D-A25D-08	1014996	130220338	25050222	572	116746											
IDS	3423	broad.mit.edu	37	chrX	148579806	148579806	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacagggcaaagcaggttGgcatggagttctccatctgg	13	10	2	0			TCGA-D7-A4YY-01A-11D-A25D-08	TCGA-D7-A4YY-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607d041c-7219-4cd1-8276-0d3031601b3c	dc39cfd8-eced-4a56-b080-5d8fd03a622f	g.chrX:148579806G>T	uc011mxe.1	-	5	738	c.540C>A	c.(538-540)GCC>GCA	p.A180A	IDS_uc011mxf.1_Silent_p.A90A|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_5'UTR|IDS_uc011mxh.1_Silent_p.A180A|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	180						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAAGCAGGTTGGCATGGAGTT	0.453													T	148579806	G	T	148579806	2	4	230	1	0	0	0	0	0	0	0	1	7503	1335	47	5		5	IDS	23	148579806	Silent	SNP	G	TCGA-D7-A4YY-01A-11D-A25D-08	18359468	148579806	6690754	573	116747											
TAS1R3	83756	broad.mit.edu	37	chr1	1268161	1268161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgcctcaggctgccccgCgcaggaccccgtgaagccct	11	19	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:1268161C>T	uc010nyk.1	+	3	1250	c.1250C>T	c.(1249-1251)GCG>GTG	p.A417V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	417	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	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)	GGCTGCCCCGCGCAGGACCCC	0.652													T	1268161	C	T	1268161	3	4	231	1	0	0	0	0	1	0	0	0	15561	768	27	1	1260	1	TAS1R3	1	1268161	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08		1268161	247982460	1	116748											
CASZ1	54897	broad.mit.edu	37	chr1	10700034	10700034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaggacgccgtcttccgCcgcttgccgaagggcgacat	15	14	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:10700034C>T	uc001aro.2	-	21	4565	c.4245G>A	c.(4243-4245)CGG>CGA	p.R1415R		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		CCGTCTTCCGCCGCTTGCCGA	0.632													T	10700034	C	T	10700034	2	4	231	1	0	0	0	0	0	0	0	1	2685	726	26	2		2	CASZ1	1	10700034	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	9431873	10700034	238550587	2	116749											
MTOR	2475	broad.mit.edu	37	chr1	11188135	11188135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttggctgcattgtgccGggctgtcgtggtagacttag	15	8	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:11188135G>A	uc001asd.2	-	43	6080	c.5959C>T	c.(5959-5961)CGG>TGG	p.R1987W	MTOR_uc001asc.2_Missense_Mutation_p.R192W	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1987					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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GCATTGTGCCGGGCTGTCGTG	0.527													A	11188135	G	A	11188135	3	1	231	1	0	0	0	0	1	0	0	0	9954	1115	39	1	1754	1	MTOR	1	11188135	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	488101	11188135	238062486	3	116750											
PUM1	9698	broad.mit.edu	37	chr1	31414062	31414062	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctacaattttgctttTatcctcaggacgaccgtgct	7	11	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:31414062T>A	uc001bsi.1	-	20	3285	c.3172A>T	c.(3172-3174)AAA>TAA	p.K1058*	PUM1_uc001bsf.1_Nonsense_Mutation_p.K726*|PUM1_uc001bsg.1_Nonsense_Mutation_p.K792*|PUM1_uc001bsh.1_Nonsense_Mutation_p.K1060*|PUM1_uc001bsj.1_Nonsense_Mutation_p.K1034*|PUM1_uc010oga.1_Nonsense_Mutation_p.K916*|PUM1_uc001bsk.1_Nonsense_Mutation_p.K1096*|PUM1_uc010ogb.1_Nonsense_Mutation_p.K999*|SNORD103A_uc009vts.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	1058	PUM-HD.|Pumilio 6.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		ATTTTGCTTTTATCCTCAGGA	0.383													A	31414062	T	A	31414062	4	1	231	1	0	0	0	0	0	1	0	0	12825	1763	61	5	400	5	PUM1	1	31414062	Nonsense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	20225927	31414062	217836559	4	116751											
CACHD1	57685	broad.mit.edu	37	chr1	65157095	65157095	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtcgatgtgggaaaccatGatgaggacttagacctggat	15	6	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:65157095G>A	uc001dbo.1	+	27	3628	c.3523G>A	c.(3523-3525)GAT>AAT	p.D1175N	CACHD1_uc001dbp.1_Missense_Mutation_p.D930N|CACHD1_uc001dbq.1_Missense_Mutation_p.D930N|CACHD1_uc010opa.1_Missense_Mutation_p.D419N	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1226	Cytoplasmic (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						GGGAAACCATGATGAGGACTT	0.522													A	65157095	G	A	65157095	3	1	231	1	0	0	0	0	1	0	0	0	2537	1290	45	4	3629	4	CACHD1	1	65157095	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	33743033	65157095	184093526	5	116752											
PDE4B	5142	broad.mit.edu	37	chr1	66827326	66827326	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgtggagatcccatcTcctacccagaaagacaggga	10	10	1	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:66827326T>C	uc001dcn.2	+	10	1061	c.870T>C	c.(868-870)TCT>TCC	p.S290S	PDE4B_uc009war.2_Silent_p.S198S|PDE4B_uc001dco.2_Silent_p.S290S|PDE4B_uc001dcp.2_Silent_p.S275S|PDE4B_uc001dcq.2_Silent_p.S118S|PDE4B_uc009was.2_Silent_p.S57S	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	290					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AGATCCCATCTCCTACCCAGA	0.393													C	66827326	T	C	66827326	2	2	231	1	0	0	0	0	0	0	0	1	11640	1538	54	3		3	PDE4B	1	66827326	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1670231	66827326	182423295	6	116753											
LRRIQ3	127255	broad.mit.edu	37	chr1	74621436	74621436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaattttttctaactaAgaaaccacgtatccatcttt	2	11	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:74621436A>C	uc001dfy.3	-	4	880	c.688T>G	c.(688-690)TTA>GTA	p.L230V	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	230	IQ.									ovary(2)	2						TTTCTAACTAAGAAACCACGT	0.259													C	74621436	A	C	74621436	3	2	231	1	0	0	0	0	1	0	0	0	9030	69	3	5	1206	5	LRRIQ3	1	74621436	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	7794110	74621436	174629185	7	116754											
LRRIQ3	127255	broad.mit.edu	37	chr1	74621467	74621467	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatctttgaacaatcaaAactggtgaattatgagccag	7	8	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:74621467A>C	uc001dfy.3	-	4	849	c.657T>G	c.(655-657)GTT>GTG	p.V219V	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	219	IQ.									ovary(2)	2						GAACAATCAAAACTGGTGAAT	0.269													C	74621467	A	C	74621467	2	2	231	1	0	0	0	0	0	0	0	1	9030	1	1	5		5	LRRIQ3	1	74621467	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	31	74621467	174629154	8	116755											
ELTD1	64123	broad.mit.edu	37	chr1	79387375	79387376	+	Nonsense_Mutation	DNP	AG	AG	GT													tgaggtgtgggtctcatttgAgtatgtcagctcacagccct							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:79387375_79387376AG>GT	uc001diq.3	-	9	1335_1336	c.1179_1180CT>AC	c.(1177-1182)TACTCA>TAACCA	p.393_394YS>*P		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	393_394	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTCTCATTTGAGTATGTCAGCT	0.436													GT	79387376	AG	GT	79387375	4	3	231	1	0	0	0	0	0	1	0	0	5084	304	11	3	920	3	ELTD1	1	79387375	Nonsense_Mutation	DNP	AG	TCGA-D7-A4Z0-01A-22D-A25D-08	4765908	79387375	169863246	9	116756											
COL11A1	1301	broad.mit.edu	37	chr1	103449740	103449740	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaatcctggaactccaAgttttccctacagttaaaat	6	10	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:103449740A>T	uc001dul.2	-	31	2828	c.2510T>A	c.(2509-2511)CTT>CAT	p.L837H	COL11A1_uc001duk.2_Missense_Mutation_p.L28M|COL11A1_uc001dum.2_Missense_Mutation_p.L849H|COL11A1_uc001dun.2_Missense_Mutation_p.L798H|COL11A1_uc009weh.2_Missense_Mutation_p.L721H	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	837	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		TGGAACTCCAAGTTTTCCCTA	0.209													T	103449740	A	T	103449740	3	4	231	1	0	0	0	0	1	0	0	0	3667	72	3	5	3058	5	COL11A1	1	103449740	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	24062365	103449740	145800881	10	116757											
COL11A1	1301	broad.mit.edu	37	chr1	103491428	103491428	+	Frame_Shift_Del	DEL	G	G	-													gatgaaaatttttcagatttGgggggtgtaaactttttgga							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:103491427_103491427TG>T	uc001dum.3	-	5	1180	c.862_862CA>A	c.(862-864)aaafs	p.K288fs	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	290	Nonhelical 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.P287P(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)		TTTTCAGATTTGGGGGGTGTA	0.343													-	103491428	G	-	103491428	7	5	231	1	0	1	0	1	0	0	0	0	3667	1335	47	0	4843	0	COL11A1	1	103491428	Frame_Shift_Del	DEL	G	TCGA-D7-A4Z0-01A-22D-A25D-08	41688	103491428	145759193	11	116758											
NTNG1	22854	broad.mit.edu	37	chr1	108023350	108023350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagaagctgcggtgcgAggaggctggcagctgcggct	19	10	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:108023350A>G	uc001dvh.3	+	8	2226	c.1508A>G	c.(1507-1509)GAG>GGG	p.E503G	NTNG1_uc001dvf.3_Missense_Mutation_p.E444G|NTNG1_uc010out.1_Missense_Mutation_p.E469G|NTNG1_uc001dvc.3_Missense_Mutation_p.E402G|NTNG1_uc001dvi.2_Missense_Mutation_p.R71G|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Silent_p.R65R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	503					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CTGCGGTGCGAGGAGGCTGGC	0.716													G	108023350	A	G	108023350	3	3	231	1	0	0	0	0	1	0	0	0	10704	304	11	3	1668	3	NTNG1	1	108023350	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	4531922	108023350	141227271	12	116759											
HSD3B2	3284	broad.mit.edu	37	chr1	119958041	119958041	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactttggattggccaCgatgggctggagctgccttg	14	10	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:119958041C>T	uc001ehs.2	+	1	772	c.-1C>T	c.(-3-1)CACGA>CATGA		HSD3B2_uc001eht.2_Translation_Start_Site|HSD3B2_uc001ehu.2_Translation_Start_Site	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2						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			ovary(2)	2	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)	GGATTGGCCACGATGGGCTGG	0.542													T	119958041	C	T	119958041	1	4	231	1	0	0	0	0	0	0	0	0	7391	551	19	1		1	HSD3B2	1	119958041	Translation_Start_Site	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	11934691	119958041	129292580	13	116760											
S100A7A	338324	broad.mit.edu	37	chr1	153390570	153390570	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaagatgagcaacacTcaagctgagaggtccataat	9	8	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:153390570T>A	uc001fbt.1	+	2	69	c.12T>A	c.(10-12)ACT>ACA	p.T4T		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	4						cytoplasm	calcium ion binding			skin(1)	1	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)			TGAGCAACACTCAAGCTGAGA	0.423													A	153390570	T	A	153390570	2	1	231	1	0	0	0	0	0	0	0	1	13784	1538	54	5		5	S100A7A	1	153390570	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	33432529	153390570	95860051	14	116761											
KIRREL	55243	broad.mit.edu	37	chr1	158064484	158064484	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaagaccgcccgtcTtccagggcagtgctctatgc	11	15	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:158064484T>C	uc001frn.3	+	15	2252	c.1848T>C	c.(1846-1848)TCT>TCC	p.S616S	KIRREL_uc010pib.1_Silent_p.S516S|KIRREL_uc009wsq.2_Silent_p.S452S|KIRREL_uc001fro.3_Silent_p.S430S|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	616	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					ACCGCCCGTCTTCCAGGGCAG	0.647													C	158064484	T	C	158064484	2	2	231	1	0	0	0	0	0	0	0	1	8324	1596	56	3		3	KIRREL	1	158064484	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4673914	158064484	91186137	15	116762											
CD1D	912	broad.mit.edu	37	chr1	158151310	158151310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaatagcagctggacgCgcaccgacggcttggcgtgg	15	13	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:158151310C>T	uc001frr.2	+	3	626	c.127C>T	c.(127-129)CGC>TGC	p.R43C	CD1D_uc009wsr.1_Missense_Mutation_p.R43C|CD1D_uc009wss.2_Missense_Mutation_p.R43C|CD1D_uc009wst.1_5'UTR	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	43	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CAGCTGGACGCGCACCGACGG	0.627													T	158151310	C	T	158151310	3	4	231	1	0	0	0	0	1	0	0	0	2977	768	27	1	133	1	CD1D	1	158151310	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	86826	158151310	91099311	16	116763											
OR10T2	128360	broad.mit.edu	37	chr1	158368853	158368853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccttttgtttatgatgAgtgtgtacctcagagggtga	12	7	1	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:158368853A>G	uc010pih.1	-	1	404	c.404T>C	c.(403-405)CTC>CCC	p.L135P		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GTTTATGATGAGTGTGTACCT	0.463													G	158368853	A	G	158368853	3	3	231	1	0	0	0	0	1	0	0	0	10919	304	11	3	542	3	OR10T2	1	158368853	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	217543	158368853	90881768	17	116764											
SPTA1	6708	broad.mit.edu	37	chr1	158585082	158585082	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcccactgctgagccaAtccaatggtgctgtatttga	10	11	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:158585082A>C	uc001fst.1	-	48	6911	c.6712T>G	c.(6712-6714)TTG>GTG	p.L2238V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2238	Spectrin 21.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TGCTGAGCCAATCCAATGGTG	0.537													C	158585082	A	C	158585082	3	2	231	1	0	0	0	0	1	0	0	0	15115	98	4	5	567	5	SPTA1	1	158585082	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	216229	158585082	90665539	18	116765											
SPTA1	6708	broad.mit.edu	37	chr1	158612297	158612297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagatcggccatcgacTtcatgtgcaaaggtctggtg	12	10	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:158612297T>G	uc001fst.1	-	33	4840	c.4641A>C	c.(4639-4641)GAA>GAC	p.E1547D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1547	Spectrin 15.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGCCATCGACTTCATGTGCAA	0.423													G	158612297	T	G	158612297	3	3	231	1	0	0	0	0	1	0	0	0	15115	1606	56	5	2698	5	SPTA1	1	158612297	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	27215	158612297	90638324	19	116766											
LY9	4063	broad.mit.edu	37	chr1	160793532	160793532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcactccatatgtcacggaAgttgagtctgtggttggaga	13	7	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:160793532A>C	uc001fwu.2	+	8	1826	c.1776A>C	c.(1774-1776)GAA>GAC	p.E592D	LY9_uc001fwv.2_Missense_Mutation_p.E578D|LY9_uc001fww.2_Missense_Mutation_p.E502D|LY9_uc001fwx.2_Missense_Mutation_p.E502D|LY9_uc001fwy.1_Missense_Mutation_p.E390D|LY9_uc001fwz.2_Missense_Mutation_p.E230D	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	592	Cytoplasmic (Potential).				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTCACGGAAGTTGAGTCTG	0.517													C	160793532	A	C	160793532	3	2	231	1	0	0	0	0	1	0	0	0	9101	69	3	5	1938	5	LY9	1	160793532	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	2181235	160793532	88457089	20	116767											
HMCN1	83872	broad.mit.edu	37	chr1	186026528	186026528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaattctgtgaggattcTttcaggtattagaaattctg	9	5	4	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:186026528T>G	uc001grq.1	+	46	7536	c.7307T>G	c.(7306-7308)CTT>CGT	p.L2436R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2436	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GTGAGGATTCTTTCAGGTATT	0.383													G	186026528	T	G	186026528	3	3	231	1	0	0	0	0	1	0	0	0	7220	1609	56	5	7489	5	HMCN1	1	186026528	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	25232996	186026528	63224093	21	116768											
HMCN1	83872	broad.mit.edu	37	chr1	186122892	186122892	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttaggattacacagAggactacattcaaacaggtc	7	10	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:186122892A>C	uc001grq.1	+	97	15258	c.15029A>C	c.(15028-15030)GAG>GCG	p.E5010A	HMCN1_uc001grs.1_Missense_Mutation_p.E579A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5010	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GATTACACAGAGGACTACATT	0.458													C	186122892	A	C	186122892	3	2	231	1	0	0	0	0	1	0	0	0	7220	304	11	5	15415	5	HMCN1	1	186122892	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	96364	186122892	63127729	22	116769											
CRB1	23418	broad.mit.edu	37	chr1	197390846	197390846	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgttgctctgcttaacTtctataatatgccatccaca	6	10	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:197390846T>G	uc001gtz.2	+	6	2023	c.1888T>G	c.(1888-1890)TTC>GTC	p.F630V	CRB1_uc010poz.1_Missense_Mutation_p.F561V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F518V|CRB1_uc010ppb.1_Missense_Mutation_p.F630V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F111V|CRB1_uc001gub.1_Missense_Mutation_p.F279V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	630	Extracellular (Potential).|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			ovary(5)|skin(3)|large_intestine(1)	9						TCTGCTTAACTTCTATAATAT	0.418													G	197390846	T	G	197390846	3	3	231	1	0	0	0	0	1	0	0	0	3848	1609	56	5	1910	5	CRB1	1	197390846	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	11267954	197390846	51859775	23	116770											
CACNA1S	779	broad.mit.edu	37	chr1	201039501	201039501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgtggtcgggggctcagCgggatctcaggctcatcttc	16	11	4	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:201039501C>T	uc001gvv.2	-	17	2486	c.2259G>A	c.(2257-2259)CCG>CCA	p.P753P		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	753	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGGGCTCAGCGGGATCTCAG	0.577													T	201039501	C	T	201039501	2	4	231	1	0	0	0	0	0	0	0	1	2547	755	27	1		1	CACNA1S	1	201039501	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	3648655	201039501	48211120	24	116771											
KCNH1	3756	broad.mit.edu	37	chr1	211093380	211093380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagacggagcagccggacaActtttagagagctgaacagg	13	9	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:211093380A>C	uc001hib.2	-	7	1234	c.1064T>G	c.(1063-1065)GTT>GGT	p.V355G	KCNH1_uc001hic.2_Missense_Mutation_p.V328G	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	355	Helical; Voltage-sensor; Name=Segment S4; (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGCCGGACAACTTTTAGAGA	0.572													C	211093380	A	C	211093380	3	2	231	1	0	0	0	0	1	0	0	0	8031	43	2	5	1925	5	KCNH1	1	211093380	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	10053879	211093380	38157241	25	116772											
FMN2	56776	broad.mit.edu	37	chr1	240370433	240370433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcccccctggggctgAaagtggacctcagacaaagt	11	13	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:240370433A>G	uc010pyd.1	+	5	2546	c.2321A>G	c.(2320-2322)GAA>GGA	p.E774G	FMN2_uc010pye.1_Missense_Mutation_p.E778G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	774	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTGGGGCTGAAAGTGGACCT	0.572													G	240370433	A	G	240370433	3	3	231	1	0	0	0	0	1	0	0	0	5950	246	9	3	2339	3	FMN2	1	240370433	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	29277053	240370433	8880188	26	116773											
FMN2	56776	broad.mit.edu	37	chr1	240555835	240555835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgaccaagaggcagaggAaaattcactgacagagactc	10	8	1	5			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr1:240555835A>G	uc010pyd.1	+	15	5108	c.4883A>G	c.(4882-4884)GAA>GGA	p.E1628G	FMN2_uc010pye.1_Missense_Mutation_p.E1632G|FMN2_uc010pyf.1_Missense_Mutation_p.E243G|FMN2_uc010pyg.1_Missense_Mutation_p.E224G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1628	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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCAGAGGAAAATTCACTG	0.348													G	240555835	A	G	240555835	3	3	231	1	0	0	0	0	1	0	0	0	5950	246	9	3	4941	3	FMN2	1	240555835	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	185402	240555835	8694786	27	116774											
SNTG2	54221	broad.mit.edu	37	chr2	1271173	1271173	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctggttgcaagcaaacTtgtatctgggtcttcaagat	10	8	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:1271173T>G	uc002qwq.2	+	14	1242	c.1114T>G	c.(1114-1116)TTG>GTG	p.L372V	SNTG2_uc010ewi.2_Missense_Mutation_p.L245V	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	372	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	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)		GCAAGCAAACTTGTATCTGGG	0.522													G	1271173	T	G	1271173	3	3	231	1	0	0	0	0	1	0	0	0	14875	1606	56	5	1168	5	SNTG2	2	1271173	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		1271173	241928200	28	116775											
POMC	5443	broad.mit.edu	37	chr2	25384357	25384357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggagcgcttgccctcgcGcgggcccggcttggcaccat	15	15	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:25384357G>A	uc002rfy.1	-	4	660	c.397C>T	c.(397-399)CGC>TGC	p.R133C	POMC_uc002rfz.1_Missense_Mutation_p.R133C|POMC_uc002rga.1_Missense_Mutation_p.R133C	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	133					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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTGCCCTCGCGCGGGCCCGGC	0.716													A	25384357	G	A	25384357	3	1	231	1	0	0	0	0	1	0	0	0	12242	1087	38	1	410	1	POMC	2	25384357	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	24113184	25384357	217815016	29	116776											
C2orf39	92749	broad.mit.edu	37	chr2	26671585	26671585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcagaagaggccgccGcggaaccagagtcctacctg	15	12	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:26671585G>A	uc002rhg.2	+	11	1497	c.1423G>A	c.(1423-1425)GCG>ACG	p.A475T		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	475											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGCCGCCGCGGAACCAGA	0.512													A	26671585	G	A	26671585	3	1	231	1	0	0	0	0	1	0	0	0	2164	1087	38	1	1465	1	C2orf39	2	26671585	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	1287228	26671585	216527788	30	116777											
GALNT14	79623	broad.mit.edu	37	chr2	31215824	31215824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actttttggcattcagatacCgccgctcatcaaactggtcc	7	13	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:31215824C>G	uc002rnr.2	-	2	798	c.179G>C	c.(178-180)CGG>CCG	p.R60P	GALNT14_uc002rnq.2_Missense_Mutation_p.R40P|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R25P|GALNT14_uc010ezo.1_Missense_Mutation_p.R60P|GALNT14_uc010ezp.1_Missense_Mutation_p.R31P	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	60	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					ATTCAGATACCGCCGCTCATC	0.572													G	31215824	C	G	31215824	3	3	231	1	0	0	0	0	1	0	0	0	6212	652	23	5	1535	5	GALNT14	2	31215824	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	4544239	31215824	211983549	31	116778											
MAP4K3	8491	broad.mit.edu	37	chr2	39664044	39664044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctttaccttgtagacgtCgccgtaggtgccgctgccga	12	13	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:39664044C>T	uc002rro.2	-	1	176	c.85G>A	c.(85-87)GAC>AAC	p.D29N	MAP4K3_uc002rrp.2_Missense_Mutation_p.D29N|uc002rrq.2_Intron|uc002rrr.1_5'Flank	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	29	Protein kinase.|ATP (By similarity).				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				TTGTAGACGTCGCCGTAGGTG	0.706													T	39664044	C	T	39664044	3	4	231	1	0	0	0	0	1	0	0	0	9261	884	31	1	2735	1	MAP4K3	2	39664044	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	8448220	39664044	203535329	32	116779											
SLC8A1	6546	broad.mit.edu	37	chr2	40656259	40656259	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgctgacagccttccTtgcttggtcagctgcatgcc	11	13	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:40656259T>G	uc002rrx.2	-	1	1186	c.1162A>C	c.(1162-1164)AGG>CGG	p.R388R	SLC8A1_uc002rry.2_Silent_p.R388R|SLC8A1_uc002rrz.2_Silent_p.R388R|SLC8A1_uc002rsa.2_Silent_p.R388R|SLC8A1_uc002rsd.3_Silent_p.R388R|SLC8A1_uc002rsb.1_Silent_p.R388R|SLC8A1_uc010fan.1_Silent_p.R388R|SLC8A1_uc002rsc.1_Silent_p.R388R	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	388	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACAGCCTTCCTTGCTTGGTCA	0.448													G	40656259	T	G	40656259	2	3	231	1	0	0	0	0	0	0	0	1	14706	1608	56	5		5	SLC8A1	2	40656259	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	992215	40656259	202543114	33	116780											
SLC3A1	6519	broad.mit.edu	37	chr2	44531329	44531329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtattgacaggaccgtgaTgtactatggattgccattta	11	6	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:44531329T>C	uc002ruc.3	+	7	1262	c.1184T>C	c.(1183-1185)ATG>ACG	p.M395T	SLC3A1_uc002rtz.2_Missense_Mutation_p.M395T|SLC3A1_uc002rua.2_Missense_Mutation_p.M395T|SLC3A1_uc002rub.2_Missense_Mutation_p.M395T|SLC3A1_uc002rud.3_Missense_Mutation_p.M117T|SLC3A1_uc002rue.3_Missense_Mutation_p.M15T	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	395	Extracellular (Potential).				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				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AGGACCGTGATGTACTATGGA	0.458													C	44531329	T	C	44531329	3	2	231	1	0	0	0	0	1	0	0	0	14626	1464	51	3	1210	3	SLC3A1	2	44531329	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	3875070	44531329	198668044	34	116781											
FSHR	2492	broad.mit.edu	37	chr2	49191058	49191058	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcctgagtcatataatcaActtcttgccttaaaatagat	5	8	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:49191058A>C	uc002rww.2	-	10	976	c.902T>G	c.(901-903)GTT>GGT	p.V301G	FSHR_uc002rwx.2_Missense_Mutation_p.V239G|FSHR_uc010fbn.2_Missense_Mutation_p.V275G	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	301	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		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)	CATATAATCAACTTCTTGCCT	0.393									Gonadal_Dysgenesis_46_XX				C	49191058	A	C	49191058	3	2	231	1	0	0	0	0	1	0	0	0	6073	43	2	5	1189	5	FSHR	2	49191058	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	4659729	49191058	194008315	35	116782											
VPS54	51542	broad.mit.edu	37	chr2	64144075	64144075	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgacaataagaacttcAgctggtttcctttcttctgt	6	12	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:64144075A>G	uc002scq.2	-	16	2350	c.2187T>C	c.(2185-2187)GCT>GCC	p.A729A	VPS54_uc002scp.2_Silent_p.A717A|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Silent_p.A214A|VPS54_uc010fct.2_Silent_p.A576A	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	729					protein transport|retrograde transport, endosome to Golgi						0						TAAGAACTTCAGCTGGTTTCC	0.373													G	64144075	A	G	64144075	2	3	231	1	0	0	0	0	0	0	0	1	17213	175	7	3		3	VPS54	2	64144075	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	14953017	64144075	179055298	36	116783											
CD207	50489	broad.mit.edu	37	chr2	71058947	71058947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctgttttatacagaaActcctgtaggaaagacagga	9	10	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:71058947A>C	uc002shg.2	-	5	768	c.721T>G	c.(721-723)TTT>GTT	p.F241V		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	241	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TTATACAGAAACTCCTGTAGG	0.532													C	71058947	A	C	71058947	3	2	231	1	0	0	0	0	1	0	0	0	2983	43	2	5	273	5	CD207	2	71058947	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	6914872	71058947	172140426	37	116784											
CD207	50489	broad.mit.edu	37	chr2	71060118	71060118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaggtctttggaatgagAgaaaagtaatagaagttccc	10	6	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:71060118A>G	uc002shg.2	-	4	677	c.630T>C	c.(628-630)TCT>TCC	p.S210S		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	210	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						TTGGAATGAGAGAAAAGTAAT	0.468													G	71060118	A	G	71060118	2	3	231	1	0	0	0	0	0	0	0	1	2983	291	11	3		3	CD207	2	71060118	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1171	71060118	172139255	38	116785											
EXOC6B	23233	broad.mit.edu	37	chr2	72606879	72606879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacattctctgacgtccaAgttgaactgctgtaatgctc	7	11	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:72606879A>C	uc010fep.2	-	19	2239	c.2101T>G	c.(2101-2103)TTG>GTG	p.L701V		NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	701					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CTGACGTCCAAGTTGAACTGC	0.448													C	72606879	A	C	72606879	3	2	231	1	0	0	0	0	1	0	0	0	5309	69	3	5	350	5	EXOC6B	2	72606879	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1546761	72606879	170592494	39	116786											
ALMS1	7840	broad.mit.edu	37	chr2	73747132	73747132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaggttactttttctcGcggcacagatggtaagagaa	10	9	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:73747132G>A	uc002sje.1	+	13	9884	c.9773G>A	c.(9772-9774)CGC>CAC	p.R3258H	ALMS1_uc002sjf.1_Missense_Mutation_p.R3214H|ALMS1_uc002sjg.2_Missense_Mutation_p.R2644H|ALMS1_uc002sjh.1_Missense_Mutation_p.R2644H|ALMS1_uc010fev.1_Missense_Mutation_p.R73H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3256					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACTTTTTCTCGCGGCACAGAT	0.408													A	73747132	G	A	73747132	3	1	231	1	0	0	0	0	1	0	0	0	535	1087	38	1	9809	1	ALMS1	2	73747132	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	1140253	73747132	169452241	40	116787											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530496	125530496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgagaggaacctcaAggagacctccctgcaggtgg	15	12	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:125530496A>T	uc002tno.2	+	17	3015	c.2651A>T	c.(2650-2652)AAG>ATG	p.K884M	CNTNAP5_uc010flu.2_Missense_Mutation_p.K885M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	884	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGAACCTCAAGGAGACCTCC	0.547													T	125530496	A	T	125530496	3	4	231	1	0	0	0	0	1	0	0	0	3650	72	3	5	2717	5	CNTNAP5	2	125530496	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	51783364	125530496	117668877	41	116788											
THSD7B	80731	broad.mit.edu	37	chr2	137852673	137852673	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattgttgaaggagaacTtctgcagcaatgtcccaggt	11	9	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:137852673T>G	uc002tva.1	+	3	1088	c.1088T>G	c.(1087-1089)CTT>CGT	p.L363R	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.L253R	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAAGGAGAACTTCTGCAGCAA	0.443													G	137852673	T	G	137852673	3	3	231	1	0	0	0	0	1	0	0	0	15877	1609	56	5	1098	5	THSD7B	2	137852673	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	12322177	137852673	105346700	42	116789											
THSD7B	80731	broad.mit.edu	37	chr2	138169270	138169270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgaatttatatcccaAccttatggaaactggtcaga	8	7	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:138169270A>C	uc002tva.1	+	13	2694	c.2694A>C	c.(2692-2694)CAA>CAC	p.Q898H	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.Q788H	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTATATCCCAACCTTATGGAA	0.473													C	138169270	A	C	138169270	3	2	231	1	0	0	0	0	1	0	0	0	15877	40	2	5	2744	5	THSD7B	2	138169270	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	316597	138169270	105030103	43	116790											
LRP1B	53353	broad.mit.edu	37	chr2	141641403	141641403	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacccatatcttgggtccaaAgcaatggccctggggtgttc	11	11	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:141641403A>T	uc002tvj.1	-	25	5124	c.4152T>A	c.(4150-4152)GCT>GCA	p.A1384A	LRP1B_uc010fnl.1_Silent_p.A566A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1384	Extracellular (Potential).|LDL-receptor class B 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TTGGGTCCAAAGCAATGGCCC	0.388										TSP Lung(27;0.18)			T	141641403	A	T	141641403	2	4	231	1	0	0	0	0	0	0	0	1	8955	59	3	5		5	LRP1B	2	141641403	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3472133	141641403	101557970	44	116791											
XIRP2	129446	broad.mit.edu	37	chr2	168103841	168103841	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatagtcttcttcagccaaAgccaggtccatttgagccag	8	11	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:168103841A>T	uc002udx.2	+	8	5957	c.5939A>T	c.(5938-5940)AAG>ATG	p.K1980M	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1805M|XIRP2_uc010fpq.2_Missense_Mutation_p.K1758M|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1805					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTTCAGCCAAAGCCAGGTCCA	0.468													T	168103841	A	T	168103841	3	4	231	1	0	0	0	0	1	0	0	0	17427	72	3	5	5969	5	XIRP2	2	168103841	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	26462438	168103841	75095532	45	116792											
MYO3B	140469	broad.mit.edu	37	chr2	171242770	171242770	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgattgttcagcatttgacTttcttgggaaaggtattgac	10	6	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:171242770T>G	uc002ufy.2	+	13	1505	c.1362T>G	c.(1360-1362)ACT>ACG	p.T454T	MYO3B_uc002ufv.2_Silent_p.T441T|MYO3B_uc010fqb.1_Silent_p.T441T|MYO3B_uc002ufz.2_Silent_p.T454T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	454	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						AGCATTTGACTTTCTTGGGAA	0.443													G	171242770	T	G	171242770	2	3	231	1	0	0	0	0	0	0	0	1	10077	1596	56	5		5	MYO3B	2	171242770	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	3138929	171242770	71956603	46	116793											
TTN	7273	broad.mit.edu	37	chr2	179415900	179415900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgctatagcccacaatcTtactgcctccatcacgcaat	4	15	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:179415900T>G	uc010zfg.1	-	285	83878	c.83654A>C	c.(83653-83655)AAG>ACG	p.K27885T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K21580T|TTN_uc010zfi.1_Missense_Mutation_p.K21513T|TTN_uc010zfj.1_Missense_Mutation_p.K21388T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28812							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCACAATCTTACTGCCTCC	0.458													G	179415900	T	G	179415900	3	3	231	1	0	0	0	0	1	0	0	0	16732	1609	56	5	16729	5	TTN	2	179415900	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	8173130	179415900	63783473	47	116794											
TTN	7273	broad.mit.edu	37	chr2	179578774	179578774	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtatttgttgtcacttgTtagctcttttccatccttaa	5	8	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:179578774T>G	uc010zfg.1	-	89	23103	c.22879A>C	c.(22879-22881)ACA>CCA	p.T7627P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4288P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8554							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCACTTGTTAGCTCTTTT	0.428													G	179578774	T	G	179578774	3	3	231	1	0	0	0	0	1	0	0	0	16732	1725	60	5	78002	5	TTN	2	179578774	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	162874	179578774	63620599	48	116795											
TTN	7273	broad.mit.edu	37	chr2	179613894	179613894	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtcactttgggcacattcTtgtacattttccttttctga	6	9	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:179613894T>C	uc002unb.2	-	46	13457	c.13233A>G	c.(13231-13233)CAA>CAG	p.Q4411Q	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCACATTCTTGTACATTTT	0.313													C	179613894	T	C	179613894	2	2	231	1	0	0	0	0	0	0	0	1	16732	1606	56	3		3	TTN	2	179613894	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	35120	179613894	63585479	49	116796											
TTN	7273	broad.mit.edu	37	chr2	179616053	179616053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccttgtccaggaaacTttcacctacattaagccaac	6	13	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:179616053T>G	uc002unb.2	-	46	11298	c.11074A>C	c.(11074-11076)AGT>CGT	p.S3692R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGGAAACTTTCACCTACA	0.338													G	179616053	T	G	179616053	3	3	231	1	0	0	0	0	1	0	0	0	16732	1609	56	5	99223	5	TTN	2	179616053	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2159	179616053	63583320	50	116797											
DNAH7	56171	broad.mit.edu	37	chr2	196771459	196771459	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacagcacatgtggggtcaAgttttagttcagttccttca	10	8	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:196771459A>C	uc002utj.3	-	27	4360	c.4259T>G	c.(4258-4260)CTT>CGT	p.L1420R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1420	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGTGGGGTCAAGTTTTAGTTC	0.378													C	196771459	A	C	196771459	3	2	231	1	0	0	0	0	1	0	0	0	4606	72	3	5	7971	5	DNAH7	2	196771459	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	17155406	196771459	46427914	51	116798											
CASP8	841	broad.mit.edu	37	chr2	202150023	202150024	+	Frame_Shift_Del	DEL	GA	GA	-													cagtcactttgccagagcctGagagagcgatgtcctcggta							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:202150022_202150023TGA>T	uc002uxr.1	+	8	1495_1496	c.1286_1287TGA>T	c.(1285-1287)ctgfs	p.L429fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.L414fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.L446fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.L488fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.L414fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.L345fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	429					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						TGCCAGAGCCTGAGAGAGCGAT	0.515										HNSCC(4;0.00038)			-	202150024	GA	-	202150023	7	5	231	1	0	1	0	1	0	0	0	0	2677	1277	45	0	1594	0	CASP8	2	202150023	Frame_Shift_Del	DEL	GA	TCGA-D7-A4Z0-01A-22D-A25D-08	5378564	202150023	41049350	52	116799											
MAP2	4133	broad.mit.edu	37	chr2	210561388	210561388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccttttaaaaccgggAgaggcagaatttccactcct	8	10	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:210561388A>G	uc002vde.1	+	8	4551	c.4303A>G	c.(4303-4305)AGA>GGA	p.R1435G	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1431G	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1435					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	TAAAACCGGGAGAGGCAGAAT	0.383													G	210561388	A	G	210561388	3	3	231	1	0	0	0	0	1	0	0	0	9235	296	11	3	4321	3	MAP2	2	210561388	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	8411365	210561388	32637985	53	116800											
ERBB4	2066	broad.mit.edu	37	chr2	212248599	212248599	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcattgacagtatgttgttcTtcaggtactcagcttttccc	8	10	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:212248599T>A	uc002veg.1	-	28	3766	c.3668A>T	c.(3667-3669)AAG>ATG	p.K1223M	ERBB4_uc002veh.1_Missense_Mutation_p.K1207M|ERBB4_uc010zji.1_Missense_Mutation_p.K1213M|ERBB4_uc010zjj.1_Missense_Mutation_p.K1197M	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1223	Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		TATGTTGTTCTTCAGGTACTC	0.517										TSP Lung(8;0.080)			A	212248599	T	A	212248599	3	1	231	1	0	0	0	0	1	0	0	0	5209	1609	56	5	262	5	ERBB4	2	212248599	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1687211	212248599	30950774	54	116801											
ERBB4	2066	broad.mit.edu	37	chr2	212426795	212426795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggtgtggatgatccatacTtgccatgatcagagcttcct	10	9	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:212426795T>C	uc002veg.1	-	20	2418	c.2320A>G	c.(2320-2322)AGT>GGT	p.S774G	ERBB4_uc002veh.1_Missense_Mutation_p.S774G|ERBB4_uc010zji.1_Missense_Mutation_p.S764G|ERBB4_uc010zjj.1_Missense_Mutation_p.S764G|ERBB4_uc010fut.1_Missense_Mutation_p.S774G	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	774	Protein kinase.|Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		TGATCCATACTTGCCATGATC	0.438										TSP Lung(8;0.080)			C	212426795	T	C	212426795	3	2	231	1	0	0	0	0	1	0	0	0	5209	1609	56	3	1642	3	ERBB4	2	212426795	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	178196	212426795	30772578	55	116802											
ERBB4	2066	broad.mit.edu	37	chr2	212483974	212483974	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagccacaggaatcttcacAgtttctccttcaggtaccca	6	13	4	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:212483974A>G	uc002veg.1	-	19	2327	c.2229T>C	c.(2227-2229)ACT>ACC	p.T743T	ERBB4_uc002veh.1_Silent_p.T743T|ERBB4_uc010zji.1_Silent_p.T733T|ERBB4_uc010zjj.1_Silent_p.T733T|ERBB4_uc010fut.1_Silent_p.T743T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	743	Protein kinase.|Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		GAATCTTCACAGTTTCTCCTT	0.373										TSP Lung(8;0.080)			G	212483974	A	G	212483974	2	3	231	1	0	0	0	0	0	0	0	1	5209	175	7	3		3	ERBB4	2	212483974	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	57179	212483974	30715399	56	116803											
TMEM198	130612	broad.mit.edu	37	chr2	220409502	220409502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccccctgagccagAtgatgccttctggggtgcac	13	14	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:220409502A>G	uc002vme.2	+	3	638	c.53A>G	c.(52-54)GAT>GGT	p.D18G	CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmc.3_5'Flank|CHPF_uc002vmd.3_5'Flank|TMEM198_uc002vmf.2_Missense_Mutation_p.D18G	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	18						integral to membrane				ovary(1)	1		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)		CCTGAGCCAGATGATGCCTTC	0.597													G	220409502	A	G	220409502	3	3	231	1	0	0	0	0	1	0	0	0	16116	333	12	3	55	3	TMEM198	2	220409502	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	7925528	220409502	22789871	57	116804											
DOCK10	55619	broad.mit.edu	37	chr2	225702525	225702525	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctcctcatggcacTtggccacaatgtcggtcaga	10	14	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:225702525T>A	uc010fwz.1	-	25	3043	c.2804A>T	c.(2803-2805)AAG>ATG	p.K935M	DOCK10_uc002vob.2_Missense_Mutation_p.K929M	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	935							GTP binding			ovary(2)	2		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)		CTCATGGCACTTGGCCACAAT	0.468													A	225702525	T	A	225702525	3	1	231	1	0	0	0	0	1	0	0	0	4685	1609	56	5	3884	5	DOCK10	2	225702525	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	5293023	225702525	17496848	58	116805											
KIAA1486	57624	broad.mit.edu	37	chr2	226447427	226447427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccccatggctaccctaaaAgtcactccacctctccctcc	3	21	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:226447427A>G	uc002voe.2	+	4	1469	c.1294A>G	c.(1294-1296)AGT>GGT	p.S432G	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.S202G	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	432	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CTACCCTAAAAGTCACTCCAC	0.667													G	226447427	A	G	226447427	3	3	231	1	0	0	0	0	1	0	0	0	8237	72	3	3	1304	3	KIAA1486	2	226447427	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	744902	226447427	16751946	59	116806											
COL4A4	1286	broad.mit.edu	37	chr2	227953493	227953493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggagggccaggggggCccatgggtccaggctcacag	18	12	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:227953493C>A	uc010zlt.1	-	22	2153	c.1499G>T	c.(1498-1500)GGC>GTC	p.G500V		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	500	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		GCCAGGGGGGCCCATGGGTCC	0.557													A	227953493	C	A	227953493	3	1	231	1	0	0	0	0	1	0	0	0	3693	739	26	5	3681	5	COL4A4	2	227953493	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	1506066	227953493	15245880	60	116807											
SPHKAP	80309	broad.mit.edu	37	chr2	228886451	228886451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctagattcatccacctcgcTttcctcctccaagtgctcag	5	17	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr2:228886451T>C	uc002vpq.2	-	6	720	c.673A>G	c.(673-675)AGC>GGC	p.S225G	SPHKAP_uc002vpp.2_Missense_Mutation_p.S225G|SPHKAP_uc010zlx.1_Missense_Mutation_p.S225G	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	225						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		TCCACCTCGCTTTCCTCCTCC	0.438													C	228886451	T	C	228886451	3	2	231	1	0	0	0	0	1	0	0	0	15047	1609	56	3	4457	3	SPHKAP	2	228886451	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	932958	228886451	14312922	61	116808											
GRM7	2917	broad.mit.edu	37	chr3	7456743	7456743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttacgtcccgtacacttgAaaacaacagaagaaatgtat	6	9	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:7456743A>C	uc003bqm.2	+	5	1341	c.1067A>C	c.(1066-1068)GAA>GCA	p.E356A	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E356A|GRM7_uc003bql.2_Missense_Mutation_p.E356A|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	356	Extracellular (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CGTACACTTGAAAACAACAGA	0.403													C	7456743	A	C	7456743	3	2	231	1	0	0	0	0	1	0	0	0	6802	246	9	5	1085	5	GRM7	3	7456743	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		7456743	190565687	62	116809											
GRM7	2917	broad.mit.edu	37	chr3	7721845	7721845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcattttccaccctgaacTcaatgtccagaaacggaagc	6	13	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:7721845T>C	uc003bqm.2	+	9	2835	c.2561T>C	c.(2560-2562)CTC>CCC	p.L854P	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.L854P|GRM7_uc003bql.2_Missense_Mutation_p.L854P|GRM7_uc003bqn.1_Missense_Mutation_p.L437P	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	854	Cytoplasmic (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CACCCTGAACTCAATGTCCAG	0.507													C	7721845	T	C	7721845	3	2	231	1	0	0	0	0	1	0	0	0	6802	1551	54	3	2595	3	GRM7	3	7721845	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	265102	7721845	190300585	63	116810											
OXSM	54995	broad.mit.edu	37	chr3	25833414	25833414	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcccggatctatgcagaAgttttgggctatggactctc	12	9	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:25833414A>C	uc003cdn.2	+	2	1010	c.903A>C	c.(901-903)GAA>GAC	p.E301D	NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Missense_Mutation_p.E26D|OXSM_uc010hfh.2_Intron	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	301					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						TCTATGCAGAAGTTTTGGGCT	0.463													C	25833414	A	C	25833414	3	2	231	1	0	0	0	0	1	0	0	0	11335	69	3	5	905	5	OXSM	3	25833414	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	18111569	25833414	172189016	64	116811											
ARPP21	10777	broad.mit.edu	37	chr3	35778853	35778853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggccctctggtcactcAggtagggggctggttggaag	18	9	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:35778853A>G	uc003cgb.2	+	16	1907	c.1643A>G	c.(1642-1644)CAG>CGG	p.Q548R	ARPP21_uc003cga.2_Missense_Mutation_p.Q494R|ARPP21_uc011axy.1_Missense_Mutation_p.Q514R|ARPP21_uc003cgf.2_Missense_Mutation_p.Q349R|ARPP21_uc003cgg.2_Missense_Mutation_p.Q36R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	548	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CTGGTCACTCAGGTAGGGGGC	0.602													G	35778853	A	G	35778853	3	3	231	1	0	0	0	0	1	0	0	0	978	202	7	3	1710	3	ARPP21	3	35778853	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	9945439	35778853	162243577	65	116812											
SCN10A	6336	broad.mit.edu	37	chr3	38739228	38739228	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagattagttgccataaacTtctcctccatatttgccttc	4	11	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:38739228T>G	uc003ciq.2	-	27	5483	c.5483A>C	c.(5482-5484)AAG>ACG	p.K1828T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1828					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	TGCCATAAACTTCTCCTCCAT	0.433													G	38739228	T	G	38739228	3	3	231	1	0	0	0	0	1	0	0	0	13912	1609	56	5	391	5	SCN10A	3	38739228	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2960375	38739228	159283202	66	116813											
CNTN3	5067	broad.mit.edu	37	chr3	74350894	74350894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaccttctttccaagAgagttgggctgttgtgtctg	11	8	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:74350894A>G	uc003dpm.1	-	14	1929	c.1849T>C	c.(1849-1851)TCT>CCT	p.S617P		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	617	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		TCTTTCCAAGAGAGTTGGGCT	0.453													G	74350894	A	G	74350894	3	3	231	1	0	0	0	0	1	0	0	0	3642	304	11	3	1273	3	CNTN3	3	74350894	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	35611666	74350894	123671536	67	116814											
ROBO2	6092	broad.mit.edu	37	chr3	77530266	77530266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatccgtggtggaaaacTgatgatctccaataccagga	10	9	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:77530266T>C	uc003dpy.3	+	4	1206	c.563T>C	c.(562-564)CTG>CCG	p.L188P	ROBO2_uc003dpz.2_Missense_Mutation_p.L188P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L188P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	188	Ig-like C2-type 2.|Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		GGTGGAAAACTGATGATCTCC	0.313													C	77530266	T	C	77530266	3	2	231	1	0	0	0	0	1	0	0	0	13514	1580	55	3	579	3	ROBO2	3	77530266	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	3179372	77530266	120492164	68	116815											
EPHA6	285220	broad.mit.edu	37	chr3	97356863	97356863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagcaacttagtatgcaaAgtttctgattttggtctctc	7	7	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:97356863A>C	uc010how.1	+	14	2764	c.2721A>C	c.(2719-2721)AAA>AAC	p.K907N	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.K299N|EPHA6_uc003drr.3_Missense_Mutation_p.K299N|EPHA6_uc003drt.2_Missense_Mutation_p.K299N|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	812	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity	p.K813N(1)		stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TAGTATGCAAAGTTTCTGATT	0.403													C	97356863	A	C	97356863	3	2	231	1	0	0	0	0	1	0	0	0	5171	69	3	5	2843	5	EPHA6	3	97356863	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	19826597	97356863	100665567	69	116816											
EPHA6	285220	broad.mit.edu	37	chr3	97454923	97454923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacaaactgatccgaaAtcccagtgcccttcacaccc	5	17	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:97454923A>C	uc010how.1	+	16	3132	c.3089A>C	c.(3088-3090)AAT>ACT	p.N1030T	EPHA6_uc003drt.2_Missense_Mutation_p.N422T|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	935	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CTGATCCGAAATCCCAGTGCC	0.443													C	97454923	A	C	97454923	3	2	231	1	0	0	0	0	1	0	0	0	5171	101	4	5	3268	5	EPHA6	3	97454923	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	98060	97454923	100567507	70	116817											
SI	6476	broad.mit.edu	37	chr3	164735642	164735642	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacggtaagttagagcaggAgttggctggaatgtaacatc	14	5	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:164735642A>C	uc003fei.2	-	30	3602	c.3540T>G	c.(3538-3540)ACT>ACG	p.T1180T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1180	Sucrase.|Lumenal.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGAGCAGGAGTTGGCTGGA	0.358										HNSCC(35;0.089)			C	164735642	A	C	164735642	2	2	231	1	0	0	0	0	0	0	0	1	14297	291	11	5		5	SI	3	164735642	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	67280719	164735642	33286788	71	116818											
SI	6476	broad.mit.edu	37	chr3	164735779	164735779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgcattgctgttgagtaAgaaaacaccatgagcattgc	9	8	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:164735779A>C	uc003fei.2	-	29	3561	c.3499T>G	c.(3499-3501)TTA>GTA	p.L1167V		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1167	Sucrase.|Lumenal.				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.L1167*(1)		ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTGTTGAGTAAGAAAACACCA	0.338										HNSCC(35;0.089)			C	164735779	A	C	164735779	3	2	231	1	0	0	0	0	1	0	0	0	14297	69	3	5	2064	5	SI	3	164735779	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	137	164735779	33286651	72	116819											
ZBBX	79740	broad.mit.edu	37	chr3	167034828	167034828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctttagagatggttcagGtctctctatgtttaatgttt	8	5	4	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:167034828G>A	uc003fep.2	-	14	1482	c.1159C>T	c.(1159-1161)CCT>TCT	p.P387S	ZBBX_uc011bpc.1_Missense_Mutation_p.P387S|ZBBX_uc003feq.2_Missense_Mutation_p.P358S	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	387						intracellular	zinc ion binding			ovary(2)	2						GATGGTTCAGGTCTCTCTATG	0.343													A	167034828	G	A	167034828	3	1	231	1	0	0	0	0	1	0	0	0	17513	1261	44	4	1275	4	ZBBX	3	167034828	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	2299049	167034828	30987602	73	116820											
KCNMB2	10242	broad.mit.edu	37	chr3	178560470	178560470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctaaatgtggaaaaaaTtttgaagaatccatgtccct	6	7	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr3:178560470T>G	uc003fjd.2	+	5	796	c.453T>G	c.(451-453)AAT>AAG	p.N151K	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151K|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151K|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	151	Extracellular (Potential).				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			ovary(1)	1	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)			GTGGAAAAAATTTTGAAGAAT	0.403													G	178560470	T	G	178560470	3	3	231	1	0	0	0	0	1	0	0	0	8075	1490	52	5	467	5	KCNMB2	3	178560470	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	11525642	178560470	19461960	74	116821											
ZNF718	255403	broad.mit.edu	37	chr4	154768	154768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagattcattccacaaacTtataccaaaaggacatgaga	6	8	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:154768T>G	uc003fzt.3	+	8	426	c.293T>G	c.(292-294)CTT>CGT	p.L98R	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TTCCACAAACTTATACCAAAA	0.338													G	154768	T	G	154768	3	3	231	1	0	0	0	0	1	0	0	0	18117	1609	56	5	307	5	ZNF718	4	154768	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		154768	190999508	75	116822											
POLR2B	5431	broad.mit.edu	37	chr4	57860970	57860970	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgacagatcgtgatcttTgtgagttaaatgaatgccct	10	7	1	5			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:57860970T>A	uc003hcl.1	+	5	557	c.514T>A	c.(514-516)TGT>AGT	p.C172S	POLR2B_uc011cae.1_Missense_Mutation_p.C165S|POLR2B_uc011caf.1_Missense_Mutation_p.C97S	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	172					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			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TCGTGATCTTTGTGAGTTAAA	0.333													A	57860970	T	A	57860970	3	1	231	1	0	0	0	0	1	0	0	0	12215	1812	63	5	532	5	POLR2B	4	57860970	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	57706202	57860970	133293306	76	116823											
LPHN3	23284	broad.mit.edu	37	chr4	62812667	62812667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtcctgtataacaacTtgggtccttatttatccacg	6	11	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:62812667T>C	uc010ihh.2	+	13	2424	c.2251T>C	c.(2251-2253)TTG>CTG	p.L751L	LPHN3_uc003hcq.3_Silent_p.L751L|LPHN3_uc003hct.2_Silent_p.L144L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	738	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GTATAACAACTTGGGTCCTTA	0.388													C	62812667	T	C	62812667	2	2	231	1	0	0	0	0	0	0	0	1	8917	1606	56	3		3	LPHN3	4	62812667	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4951697	62812667	128341609	77	116824											
PPEF2	5470	broad.mit.edu	37	chr4	76787343	76787343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accattaccacaccgttaccTcgcgactcagttgttccttg	6	15	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:76787343T>G	uc003hix.2	-	15	2276	c.1919A>C	c.(1918-1920)GAG>GCG	p.E640A	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	640					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			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACCGTTACCTCGCGACTCAG	0.473													G	76787343	T	G	76787343	3	3	231	1	0	0	0	0	1	0	0	0	12308	1565	54	5	354	5	PPEF2	4	76787343	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	13974676	76787343	114366933	78	116825											
BMP3	651	broad.mit.edu	37	chr4	81967513	81967513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataccagtataaaaaggatgAggtgtgggaggagagaaagc	15	3	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:81967513A>C	uc003hmg.3	+	2	1258	c.938A>C	c.(937-939)GAG>GCG	p.E313A		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	313					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						AAAAAGGATGAGGTGTGGGAG	0.512													C	81967513	A	C	81967513	3	2	231	1	0	0	0	0	1	0	0	0	1461	304	11	5	944	5	BMP3	4	81967513	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	5180170	81967513	109186763	79	116826											
DSPP	1834	broad.mit.edu	37	chr4	88534300	88534300	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgaagttgatggagacaAgacctccaagagtgaggaga	13	5	0	7			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:88534300A>C	uc003hqu.2	+	4	1082	c.962A>C	c.(961-963)AAG>ACG	p.K321T		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	321					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GATGGAGACAAGACCTCCAAG	0.418													C	88534300	A	C	88534300	3	2	231	1	0	0	0	0	1	0	0	0	4782	72	3	5	972	5	DSPP	4	88534300	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	6566787	88534300	102619976	80	116827											
FAT4	79633	broad.mit.edu	37	chr4	126370822	126370822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttagattgccctgaacTtactgagattggctccaaag	8	8	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:126370822T>G	uc003ifj.3	+	9	8651	c.8651T>G	c.(8650-8652)CTT>CGT	p.L2884R	FAT4_uc011cgp.1_Missense_Mutation_p.L1182R|FAT4_uc003ifi.1_Missense_Mutation_p.L362R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2884	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGCCCTGAACTTACTGAGATT	0.373													G	126370822	T	G	126370822	3	3	231	1	0	0	0	0	1	0	0	0	5692	1609	56	5	8685	5	FAT4	4	126370822	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	37836522	126370822	64783454	81	116828											
DCHS2	54798	broad.mit.edu	37	chr4	155191053	155191053	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagggtagagaaggattaccTgacttagagcacagggaaag	14	5	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:155191053T>A	uc003inw.2	-	19	5211	c.5211A>T	c.(5209-5211)TCA>TCT	p.S1737S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1737	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGGATTACCTGACTTAGAGC	0.338													A	155191053	T	A	155191053	2	1	231	1	0	0	0	0	0	0	0	1	4288	1594	55	5		5	DCHS2	4	155191053	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	28820231	155191053	35963223	82	116829											
RBM46	166863	broad.mit.edu	37	chr4	155720087	155720087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaaagcagaattcaataAatttaagcctggtgcagttg	8	5	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:155720087A>C	uc003ioo.2	+	4	946	c.773A>C	c.(772-774)AAA>ACA	p.K258T	RBM46_uc011cim.1_Missense_Mutation_p.K258T|RBM46_uc003iop.1_Missense_Mutation_p.K258T	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	258	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				GAATTCAATAAATTTAAGCCT	0.363													C	155720087	A	C	155720087	3	2	231	1	0	0	0	0	1	0	0	0	13140	14	1	5	783	5	RBM46	4	155720087	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	529034	155720087	35434189	83	116830											
GUCY1A3	2982	broad.mit.edu	37	chr4	156629419	156629419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaagactttgaaaaaAcaattgcagagcaagcagtt	9	5	0	4	rs142097871		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:156629419A>C	uc003iov.2	+	6	885	c.349A>C	c.(349-351)ACA>CCA	p.T117P	GUCY1A3_uc003iou.2_Missense_Mutation_p.T117P|GUCY1A3_uc010iqc.2_Missense_Mutation_p.T117P|GUCY1A3_uc003iow.2_Missense_Mutation_p.T117P|GUCY1A3_uc010iqd.2_Missense_Mutation_p.T117P|GUCY1A3_uc003iox.2_Missense_Mutation_p.T117P|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.T117P|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.T117P	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	117					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(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTTGAAAAAACAATTGCAGA	0.279													C	156629419	A	C	156629419	3	2	231	1	0	0	0	0	1	0	0	0	6894	43	2	5	359	5	GUCY1A3	4	156629419	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	909332	156629419	34524857	84	116831											
ODZ3	55714	broad.mit.edu	37	chr4	183664404	183664404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcatcatgggcaatgggcGaaggcgcagcatttcctgcc	13	11	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:183664404G>A	uc003ivd.1	+	18	3498	c.3461G>A	c.(3460-3462)CGA>CAA	p.R1154Q	ODZ3_uc003ive.1_Missense_Mutation_p.R560Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1154	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGCAATGGGCGAAGGCGCAGC	0.522													A	183664404	G	A	183664404	3	1	231	1	0	0	0	0	1	0	0	0	10836	1058	37	1	3531	1	ODZ3	4	183664404	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	27034985	183664404	7489872	85	116832											
TRIML2	205860	broad.mit.edu	37	chr4	189020226	189020226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttccccacactttttcTcaagctccacgatgagcttt	5	15	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr4:189020226T>C	uc003izl.2	-	4	470	c.434A>G	c.(433-435)GAG>GGG	p.E145G	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.E195G|TRIML2_uc011clf.1_Missense_Mutation_p.E195G	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	145	Potential.						ligase activity			central_nervous_system(2)	2		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)		ACACTTTTTCTCAAGCTCCAC	0.483													C	189020226	T	C	189020226	3	2	231	1	0	0	0	0	1	0	0	0	16548	1551	54	3	745	3	TRIML2	4	189020226	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	5355822	189020226	2134050	86	116833											
SLC12A7	10723	broad.mit.edu	37	chr5	1083981	1083981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaggccccagagcgcGgaggtggctgagttgttgtg	18	8	0	4	rs34815306	byFrequency	TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:1083981G>A	uc003jbu.2	-	8	1074	c.1008C>T	c.(1006-1008)TCC>TCT	p.S336S		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	336					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	CCCAGAGCGCGGAGGTGGCTG	0.657													A	1083981	G	A	1083981	2	1	231	1	0	0	0	0	0	0	0	1	14388	1103	39	1		1	SLC12A7	5	1083981	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08		1083981	179831279	87	116834											
SEMA5A	9037	broad.mit.edu	37	chr5	9197384	9197384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatggcgctcaggttgaAgacgcacacagctgaggccg	15	12	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:9197384A>G	uc003jek.2	-	10	1676	c.964T>C	c.(964-966)TTC>CTC	p.F322L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	322	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CTCAGGTTGAAGACGCACACA	0.612													G	9197384	A	G	9197384	3	3	231	1	0	0	0	0	1	0	0	0	14037	72	3	3	2316	3	SEMA5A	5	9197384	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	8113403	9197384	171717876	88	116835											
DNAH5	1767	broad.mit.edu	37	chr5	13729585	13729585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgtctgagtttgctaAgttccaccaaattcagccat	6	10	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:13729585A>C	uc003jfd.2	-	69	11888	c.11846T>G	c.(11845-11847)CTT>CGT	p.L3949R	DNAH5_uc003jfc.2_Missense_Mutation_p.L117R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3949					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GAGTTTGCTAAGTTCCACCAA	0.383									Kartagener_syndrome				C	13729585	A	C	13729585	3	2	231	1	0	0	0	0	1	0	0	0	4604	72	3	5	2072	5	DNAH5	5	13729585	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	4532201	13729585	167185675	89	116836											
DNAH5	1767	broad.mit.edu	37	chr5	13769199	13769199	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttctgtacctcagccTtgaccttttcagcagcctgt	6	15	4	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:13769199T>G	uc003jfd.2	-	58	9809	c.9767A>C	c.(9766-9768)AAG>ACG	p.K3256T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3256	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TACCTCAGCCTTGACCTTTTC	0.428									Kartagener_syndrome				G	13769199	T	G	13769199	3	3	231	1	0	0	0	0	1	0	0	0	4604	1609	56	5	4195	5	DNAH5	5	13769199	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	39614	13769199	167146061	90	116837											
C5orf23	79614	broad.mit.edu	37	chr5	32789795	32789795	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccccaaatgcatcacTttccttttagttatggctga	6	11	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:32789795T>G	uc003jhw.1	+	1	851	c.288T>G	c.(286-288)ACT>ACG	p.T96T		NM_024563	NP_078839			hypothetical protein LOC79614												0						AATGCATCACTTTCCTTTTAG	0.418													G	32789795	T	G	32789795	2	3	231	1	0	0	0	0	0	0	0	1	2286	1596	56	5		5	C5orf23	5	32789795	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	19020596	32789795	148125465	91	116838											
SPEF2	79925	broad.mit.edu	37	chr5	35641550	35641550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtttcaagtgccaaacTtaataatttttctcgcttgg	8	8	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:35641550T>C	uc003jjo.2	+	3	290	c.179T>C	c.(178-180)CTT>CCT	p.L60P	SPEF2_uc003jjn.1_Missense_Mutation_p.L60P|SPEF2_uc003jjq.3_Missense_Mutation_p.L60P	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	60	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGCCAAACTTAATAATTTT	0.368													C	35641550	T	C	35641550	3	2	231	1	0	0	0	0	1	0	0	0	15034	1609	56	3	189	3	SPEF2	5	35641550	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2851755	35641550	145273710	92	116839											
C5orf42	65250	broad.mit.edu	37	chr5	37187931	37187931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaacacagagcacaaagTtctctgaagcaacctaaagc	6	12	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:37187931T>G	uc011cpa.1	-	22	4056	c.3825A>C	c.(3823-3825)GAA>GAC	p.E1275D	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.E350D|C5orf42_uc011cpb.1_Missense_Mutation_p.E156D	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1275										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGCACAAAGTTCTCTGAAGC	0.348													G	37187931	T	G	37187931	3	3	231	1	0	0	0	0	1	0	0	0	2301	1722	60	5	5892	5	C5orf42	5	37187931	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1546381	37187931	143727329	93	116840											
HTR1A	3350	broad.mit.edu	37	chr5	63257405	63257405	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcccagcaccgcgcagaAgatgagcgtgcccagcagca	12	14	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:63257405A>C	uc011cqt.1	-	1	142	c.142T>G	c.(142-144)TTC>GTC	p.F48V		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	48	Helical; Name=1; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		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)	ACCGCGCAGAAGATGAGCGTG	0.602													C	63257405	A	C	63257405	3	2	231	1	0	0	0	0	1	0	0	0	7436	72	3	5	1129	5	HTR1A	5	63257405	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	26069474	63257405	117657855	94	116841											
AGGF1	55109	broad.mit.edu	37	chr5	76358896	76358896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatccagcttcagcttcggcGaacacatgcaggcttgggga	13	11	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:76358896G>A	uc003ket.2	+	14	2324	c.1964G>A	c.(1963-1965)CGA>CAA	p.R655Q		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	angiogenic factor VG5Q	655	G-patch.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		CAGCTTCGGCGAACACATGCA	0.443													A	76358896	G	A	76358896	3	1	231	1	0	0	0	0	1	0	0	0	382	1058	37	1	2018	1	AGGF1	5	76358896	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	13101491	76358896	104556364	95	116842											
VCAN	1462	broad.mit.edu	37	chr5	82815417	82815417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacctactggcagtaccaAgaagccctgggatatggatg	11	11	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:82815417A>C	uc003kii.3	+	7	1648	c.1292A>C	c.(1291-1293)AAG>ACG	p.K431T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.K431T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	431	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GGCAGTACCAAGAAGCCCTGG	0.448													C	82815417	A	C	82815417	3	2	231	1	0	0	0	0	1	0	0	0	17135	72	3	5	1314	5	VCAN	5	82815417	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	6456521	82815417	98099843	96	116843											
VCAN	1462	broad.mit.edu	37	chr5	82815448	82815448	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatatggatgactactcaccTtctgcttcaggacctcttgg	9	11	4	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:82815448T>G	uc003kii.3	+	7	1679	c.1323T>G	c.(1321-1323)CCT>CCG	p.P441P	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.P441P|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	441	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		ACTACTCACCTTCTGCTTCAG	0.473													G	82815448	T	G	82815448	2	3	231	1	0	0	0	0	0	0	0	1	17135	1596	56	5		5	VCAN	5	82815448	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	31	82815448	98099812	97	116844											
VCAN	1462	broad.mit.edu	37	chr5	82836092	82836092	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccaaaaccatctgacTtgtattatgaaccttctgga	6	11	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:82836092T>C	uc003kii.3	+	8	7626	c.7270T>C	c.(7270-7272)TTG>CTG	p.L2424L	VCAN_uc003kij.3_Silent_p.L1437L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.L1088L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2424	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		ACCATCTGACTTGTATTATGA	0.393													C	82836092	T	C	82836092	2	2	231	1	0	0	0	0	0	0	0	1	17135	1606	56	3		3	VCAN	5	82836092	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	20644	82836092	98079168	98	116845											
VCAN	1462	broad.mit.edu	37	chr5	82836790	82836790	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacatgatgaatcaatgacTtatgaagatagaagccaact	7	7	1	6			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:82836790T>G	uc003kii.3	+	8	8324	c.7968T>G	c.(7966-7968)ACT>ACG	p.T2656T	VCAN_uc003kij.3_Silent_p.T1669T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T1320T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2656	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		AATCAATGACTTATGAAGATA	0.448													G	82836790	T	G	82836790	2	3	231	1	0	0	0	0	0	0	0	1	17135	1596	56	5		5	VCAN	5	82836790	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	698	82836790	98078470	99	116846											
SNCAIP	9627	broad.mit.edu	37	chr5	121787094	121787094	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggacctccacaagtaAcgaatcgggggatcaactga	11	12	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:121787094A>C	uc003ksw.1	+	10	2758	c.2552A>C	c.(2551-2553)AAC>ACC	p.N851T	SNCAIP_uc011cwl.1_Missense_Mutation_p.N409T|SNCAIP_uc003ksx.1_Missense_Mutation_p.N898T|SNCAIP_uc003ksy.1_Missense_Mutation_p.N485T|SNCAIP_uc003ksz.1_Missense_Mutation_p.N485T|SNCAIP_uc010jcu.2_Missense_Mutation_p.N447T|SNCAIP_uc011cwm.1_Missense_Mutation_p.N485T|SNCAIP_uc003kta.1_Missense_Mutation_p.N483T|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.N545T|SNCAIP_uc010jcx.1_Missense_Mutation_p.N791T|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.N367T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	851					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			ovary(1)|pancreas(1)	2		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)		TCCACAAGTAACGAATCGGGG	0.478													C	121787094	A	C	121787094	3	2	231	1	0	0	0	0	1	0	0	0	14841	43	2	5	2586	5	SNCAIP	5	121787094	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	38950304	121787094	59128166	100	116847											
SLC27A6	28965	broad.mit.edu	37	chr5	128302234	128302234	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcgtggtggcctttcTcaacaccaacattcgctcca	10	14	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:128302234T>A	uc003kuy.2	+	2	800	c.404T>A	c.(403-405)CTC>CAC	p.L135H	SLC27A6_uc003kuz.2_Missense_Mutation_p.L135H	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	135	Helical; (Potential).				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				0		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)		GTGGCCTTTCTCAACACCAAC	0.607													A	128302234	T	A	128302234	3	1	231	1	0	0	0	0	1	0	0	0	14530	1551	54	5	406	5	SLC27A6	5	128302234	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	6515140	128302234	52613026	101	116848											
PCDHA5	56143	broad.mit.edu	37	chr5	140203177	140203177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggctacaacgcttggcTttcgtatgagctgcagccag	12	11	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:140203177T>C	uc003lhl.2	+	1	1817	c.1817T>C	c.(1816-1818)CTT>CCT	p.L606P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.L606P|PCDHA5_uc003lhj.1_Missense_Mutation_p.L606P	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	606	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCTTGGCTTTCGTATGAG	0.662													C	140203177	T	C	140203177	3	2	231	1	0	0	0	0	1	0	0	0	11527	1609	56	3	1819	3	PCDHA5	5	140203177	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	11900943	140203177	40712083	102	116849											
PCDHB3	56132	broad.mit.edu	37	chr5	140482134	140482134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctgctgagcgagcgcgAcgcggccaagcacaggctgg	17	13	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:140482134A>G	uc003lio.2	+	1	1901	c.1901A>G	c.(1900-1902)GAC>GGC	p.D634G	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	634	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGAGCGCGACGCGGCCAAG	0.692													G	140482134	A	G	140482134	3	3	231	1	0	0	0	0	1	0	0	0	11543	275	10	3	1903	3	PCDHB3	5	140482134	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	278957	140482134	40433126	103	116850											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723787	140723787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggagctggcggagcgcGgagtccgcatcgtctccaga	16	14	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:140723787G>A	uc003ljm.1	+	1	187	c.187G>A	c.(187-189)GGA>AGA	p.G63R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G63R	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	63	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTCCGCAT	0.607											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140723787	G	A	140723787	3	1	231	1	0	0	0	0	1	0	0	0	11555	1117	39	1	189	1	PCDHGA3	5	140723787	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	241653	140723787	40191473	104	116851											
SPINK5	11005	broad.mit.edu	37	chr5	147470754	147470754	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agaagctgaaaatgccaagcGagagggtgaaactagaattc	12	6	0	5			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:147470754G>C	uc003lox.2	+	8	702	c.629G>C	c.(628-630)CGA>CCA	p.R210P	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.R182P|SPINK5_uc010jgr.2_Missense_Mutation_p.R191P|SPINK5_uc003low.2_Missense_Mutation_p.R210P|SPINK5_uc003loy.2_Missense_Mutation_p.R210P	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	210	Kazal-like 3.				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			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCAAGCGAGAGGGTGAA	0.358													C	147470754	G	C	147470754	3	2	231	1	0	0	0	0	1	0	0	0	15061	1058	37	5	659	5	SPINK5	5	147470754	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	6746967	147470754	33444506	105	116852											
FAT2	2196	broad.mit.edu	37	chr5	150925275	150925275	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggcctccggctccaAaattttatagaccaacaagg	7	12	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:150925275A>G	uc003lue.3	-	9	5426	c.5413T>C	c.(5413-5415)TTG>CTG	p.L1805L	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1805	Extracellular (Potential).|Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGGCTCCAAAATTTTATAG	0.408													G	150925275	A	G	150925275	2	3	231	1	0	0	0	0	0	0	0	1	5690	11	1	3		3	FAT2	5	150925275	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3454521	150925275	29989985	106	116853											
FAM114A2	10827	broad.mit.edu	37	chr5	153390808	153390808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaataacttaccctggcaAgtttctctggtttggaggaa	10	8	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:153390808A>C	uc003lvb.2	-	9	1574	c.986T>G	c.(985-987)CTT>CGT	p.L329R	FAM114A2_uc003lvc.2_Missense_Mutation_p.L329R|FAM114A2_uc003lvd.2_Missense_Mutation_p.L329R|FAM114A2_uc003lve.2_Missense_Mutation_p.L145R|FAM114A2_uc011dda.1_Missense_Mutation_p.L259R	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	329							purine nucleotide binding				0						TACCCTGGCAAGTTTCTCTGG	0.378													C	153390808	A	C	153390808	3	2	231	1	0	0	0	0	1	0	0	0	5404	72	3	5	555	5	FAM114A2	5	153390808	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	2465533	153390808	27524452	107	116854											
FAM71B	153745	broad.mit.edu	37	chr5	156590352	156590352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgccagcgctgtggtcacTtgacctgggcctgcagattt	12	14	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr5:156590352T>G	uc003lwn.2	-	2	1024	c.924A>C	c.(922-924)CAA>CAC	p.Q308H		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	308	Ala-rich.					nucleus				ovary(4)|pancreas(1)|skin(1)	6	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)			CTGTGGTCACTTGACCTGGGC	0.512													G	156590352	T	G	156590352	3	3	231	1	0	0	0	0	1	0	0	0	5608	1606	56	5	897	5	FAM71B	5	156590352	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	3199544	156590352	24324908	108	116855											
F13A1	2162	broad.mit.edu	37	chr6	6145969	6145969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacccagggccggcacacTtcttcccactgcacggtgga	12	15	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:6145969T>G	uc003mwv.2	-	15	2205	c.2082A>C	c.(2080-2082)GAA>GAC	p.E694D	F13A1_uc011dib.1_Missense_Mutation_p.K588T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	694					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCCGGCACACTTCTTCCCACT	0.537													G	6145969	T	G	6145969	3	3	231	1	0	0	0	0	1	0	0	0	5340	1606	56	5	120	5	F13A1	6	6145969	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		6145969	164969098	109	116856											
SYCP2L	221711	broad.mit.edu	37	chr6	10903119	10903119	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaagggcttgaagacTtttaactgcattttgcacgc	8	9	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:10903119T>C	uc003mzo.2	+	8	860	c.564T>C	c.(562-564)ACT>ACC	p.T188T	SYCP2L_uc011din.1_Silent_p.T29T|SYCP2L_uc010jow.2_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	188						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCTTGAAGACTTTTAACTGCA	0.378													C	10903119	T	C	10903119	2	2	231	1	0	0	0	0	0	0	0	1	15430	1596	56	3		3	SYCP2L	6	10903119	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4757150	10903119	160211948	110	116857											
DCDC2	51473	broad.mit.edu	37	chr6	24291223	24291223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggcagtttcttaaacTtatctctgccaacagccaca	6	11	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:24291223T>G	uc003ndx.2	-	5	943	c.641A>C	c.(640-642)AAG>ACG	p.K214T	DCDC2_uc003ndy.2_Missense_Mutation_p.K214T	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	214	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				TTTCTTAAACTTATCTCTGCC	0.403													G	24291223	T	G	24291223	3	3	231	1	0	0	0	0	1	0	0	0	4285	1609	56	5	813	5	DCDC2	6	24291223	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	13388104	24291223	146823844	111	116858											
BTN2A2	10385	broad.mit.edu	37	chr6	26388372	26388372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacggtgaggttgtgcccGccctgaaggaggtttccatc	13	12	0	2	rs144410497	byFrequency	TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:26388372G>A	uc003nhq.2	+	4	660	c.574G>A	c.(574-576)GCC>ACC	p.A192T	BTN2A2_uc011dkf.1_Missense_Mutation_p.A76T|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.A76T|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.A192T|BTN2A2_uc003nht.2_Missense_Mutation_p.A192T|BTN2A2_uc011dki.1_5'Flank	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	192	Extracellular (Potential).|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					0						GGTTGTGCCCGCCCTGAAGGA	0.577													A	26388372	G	A	26388372	3	1	231	1	0	0	0	0	1	0	0	0	1561	1087	38	1	584	1	BTN2A2	6	26388372	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	2097149	26388372	144726695	112	116859											
OR2J3	442186	broad.mit.edu	37	chr6	29080491	29080491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattctcaagatcaaggcaAgttcattgccctcttttata	5	9	4	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:29080491A>C	uc011dll.1	+	1	824	c.824A>C	c.(823-825)AAG>ACG	p.K275T		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATCAAGGCAAGTTCATTGCC	0.438													C	29080491	A	C	29080491	3	2	231	1	0	0	0	0	1	0	0	0	11004	72	3	5	826	5	OR2J3	6	29080491	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	2692119	29080491	142034576	113	116860											
C6orf47	57827	broad.mit.edu	37	chr6	31627482	31627482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttttgctccctagctgCtcaacttggggctcctcctt	7	14	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:31627482C>T	uc003nvm.1	-	1	1068	c.243G>A	c.(241-243)GAG>GAA	p.E81E		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	81										ovary(1)	1						TCCCTAGCTGCTCAACTTGGG	0.562													T	31627482	C	T	31627482	2	4	231	1	0	0	0	0	0	0	0	1	2364	796	28	2		2	C6orf47	6	31627482	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	2546991	31627482	139487585	114	116861											
COL19A1	1310	broad.mit.edu	37	chr6	70745826	70745826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccccaggaccaccagccTtacctgtaagtattcttgaa	7	14	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:70745826T>G	uc003pfc.1	+	14	1282	c.1165T>G	c.(1165-1167)TTA>GTA	p.L389V	COL19A1_uc010kam.1_Missense_Mutation_p.L285V	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	389	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						ACCACCAGCCTTACCTGTAAG	0.303													G	70745826	T	G	70745826	3	3	231	1	0	0	0	0	1	0	0	0	3676	1606	56	5	1215	5	COL19A1	6	70745826	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	39118344	70745826	100369241	115	116862											
COQ3	51805	broad.mit.edu	37	chr6	99819343	99819343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtttcaggtgaaacaaActtctcccatgtatgagtac	8	8	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:99819343A>C	uc003ppk.2	-	6	877	c.850T>G	c.(850-852)TTT>GTT	p.F284V		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	284					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GGTGAAACAAACTTCTCCCAT	0.353													C	99819343	A	C	99819343	3	2	231	1	0	0	0	0	1	0	0	0	3746	43	2	5	267	5	COQ3	6	99819343	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	29073517	99819343	71295724	116	116863											
RGS17	26575	broad.mit.edu	37	chr6	153347643	153347643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtgtgtgggtcttcccGcattttcccctctttcttca	8	12	4	0	rs34438717		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr6:153347643G>A	uc003qpm.2	-	3	311	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	52					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GGGTCTTCCCGCATTTTCCCC	0.388									Lung_Cancer_Familial_Clustering_of				A	153347643	G	A	153347643	3	1	231	1	0	0	0	0	1	0	0	0	13299	1087	38	1	489	1	RGS17	6	153347643	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	53528300	153347643	17767424	117	116864											
GPNMB	10457	broad.mit.edu	37	chr7	23292999	23292999	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaattaaatggctggtcTtctgatgaaaatgactggaa	9	5	3	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:23292999T>G	uc003swc.2	+	2	305	c.144T>G	c.(142-144)TCT>TCG	p.S48S	GPNMB_uc003swa.2_Silent_p.S48S|GPNMB_uc003swb.2_Silent_p.S48S|GPNMB_uc011jyy.1_Silent_p.S48S|GPNMB_uc011jyz.1_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	48	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			ATGGCTGGTCTTCTGATGAAA	0.418													G	23292999	T	G	23292999	2	3	231	1	0	0	0	0	0	0	0	1	6620	1596	56	5		5	GPNMB	7	23292999	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		23292999	135845664	118	116865											
BBS9	27241	broad.mit.edu	37	chr7	33397593	33397593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatctccagtcagtcttcTtagtctcttcccaggtaaga	6	12	5	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:33397593T>G	uc003tdn.1	+	16	2192	c.1679T>G	c.(1678-1680)CTT>CGT	p.L560R	BBS9_uc003tdo.1_Missense_Mutation_p.L525R|BBS9_uc003tdp.1_Missense_Mutation_p.L555R|BBS9_uc003tdq.1_Missense_Mutation_p.L520R|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.L84R|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.L438R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	560					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GTCAGTCTTCTTAGTCTCTTC	0.388									Bardet-Biedl_syndrome				G	33397593	T	G	33397593	3	3	231	1	0	0	0	0	1	0	0	0	1342	1609	56	5	1737	5	BBS9	7	33397593	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	10104594	33397593	125741070	119	116866											
GLI3	2737	broad.mit.edu	37	chr7	42006192	42006192	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggtcgcttctgcccgggaGaagcgtcatgggcccaccca	14	14	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:42006192G>T	uc011kbh.1	-	15	2570	c.2479C>A	c.(2479-2481)CTC>ATC	p.L827I	GLI3_uc011kbg.1_Missense_Mutation_p.L768I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	827					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGCCCGGGAGAAGCGTCATG	0.587									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42006192	G	T	42006192	3	4	231	1	0	0	0	0	1	0	0	0	6439	942	33	5	2267	5	GLI3	7	42006192	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	8608599	42006192	117132471	120	116867											
ZNF117	51351	broad.mit.edu	37	chr7	64439906	64439906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgttgggcaaaataatAaaacataactgaaagaaata	8	3	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:64439906A>G	uc003ttr.2	-	4	1328	c.43T>C	c.(43-45)TAT>CAT	p.Y15H		NM_015852	NP_056936	Q03924	ZN117_HUMAN	zinc finger protein 117	15						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GCAAAATAATAAAACATAACT	0.323													G	64439906	A	G	64439906	3	3	231	1	0	0	0	0	1	0	0	0	17714	362	13	3	1412	3	ZNF117	7	64439906	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	22433714	64439906	94698757	121	116868											
WBSCR17	64409	broad.mit.edu	37	chr7	70597831	70597831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctgttggtgttgaacTtgatcgcggtagccggcttc	14	8	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:70597831T>G	uc003tvy.2	+	1	43	c.43T>G	c.(43-45)TTG>GTG	p.L15V		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	15	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGTTGAACTTGATCGCGGT	0.687													G	70597831	T	G	70597831	3	3	231	1	0	0	0	0	1	0	0	0	17261	1606	56	5	45	5	WBSCR17	7	70597831	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	6157925	70597831	88540832	122	116869											
PCLO	27445	broad.mit.edu	37	chr7	82544559	82544559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttgttggtctgtaataTtttttctgaggccaaaagtg	9	4	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:82544559T>G	uc003uhx.2	-	7	13032	c.12743A>C	c.(12742-12744)AAT>ACT	p.N4248T	PCLO_uc003uhv.2_Missense_Mutation_p.N4248T|PCLO_uc010lec.2_Missense_Mutation_p.N1213T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4179					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTCTGTAATATTTTTTCTGAG	0.428													G	82544559	T	G	82544559	3	3	231	1	0	0	0	0	1	0	0	0	11583	1493	52	5	2778	5	PCLO	7	82544559	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	11946728	82544559	76594104	123	116870											
PCLO	27445	broad.mit.edu	37	chr7	82545733	82545733	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttggggagcagttcTtggtcgctcaatgccatgct	12	9	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:82545733T>G	uc003uhx.2	-	7	11858	c.11569A>C	c.(11569-11571)AGA>CGA	p.R3857R	PCLO_uc003uhv.2_Silent_p.R3857R|PCLO_uc010lec.2_Silent_p.R822R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3788					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGAGCAGTTCTTGGTCGCTCA	0.468													G	82545733	T	G	82545733	2	3	231	1	0	0	0	0	0	0	0	1	11583	1617	56	5		5	PCLO	7	82545733	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1174	82545733	76592930	124	116871											
COL1A2	1278	broad.mit.edu	37	chr7	94057068	94057069	+	Frame_Shift_Ins	INS	-	-	TATGA													ttctctcagacccaaggactINSatgaagttgatgctactctg							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:94057067_94057068C>CTATGA	uc003ung.1	+	48	3867_3868	c.3396_3397C>CTATGA	c.(3394-3399)gactatfs	p.D1132fs	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1132					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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)	GACCCAAGGACTATGAAGTTGA	0.51										HNSCC(75;0.22)			TATGA	94057069	-	TATGA	94057068	7	5	231	1	0	1	1	0	0	0	0	0	3678	1522	53	0	3591	0	COL1A2	7	94057068	Frame_Shift_Ins	INS	-	TCGA-D7-A4Z0-01A-22D-A25D-08	11511335	94057068	65081595	125	116872											
PLOD3	8985	broad.mit.edu	37	chr7	100853686	100853686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggaagtggccaggagccGgccaaattcatgctgattgc	13	10	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:100853686G>A	uc003uyd.2	-	14	1996	c.1540C>T	c.(1540-1542)CGG>TGG	p.R514W	PLOD3_uc010lhs.2_Missense_Mutation_p.R79W	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	514					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCAGGAGCCGGCCAAATTCA	0.637													A	100853686	G	A	100853686	3	1	231	1	0	0	0	0	1	0	0	0	12103	1115	39	1	700	1	PLOD3	7	100853686	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	6796618	100853686	58284977	126	116873											
IMMP2L	83943	broad.mit.edu	37	chr7	110526690	110526690	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaactgtgtccatgatgatCaccttcaacccagatgtgac	7	11	2	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:110526690C>G	uc003vfq.1	-	5	810	c.367G>C	c.(367-369)GAT>CAT	p.D123H	IMMP2L_uc010ljr.1_Missense_Mutation_p.D123H	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane protease-like	123					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CCATGATGATCACCTTCAACC	0.398													G	110526690	C	G	110526690	3	3	231	1	0	0	0	0	1	0	0	0	7717	826	29	5	168	5	IMMP2L	7	110526690	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	9673004	110526690	48611973	127	116874											
RBM33	155435	broad.mit.edu	37	chr7	155537721	155537721	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaacagaaacgcctaagaGaagaaatcctgaaacagaag	9	7	0	6			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:155537721G>A	uc010lqk.1	+	14	2772	c.2404G>A	c.(2404-2406)GAA>AAA	p.E802K	RBM33_uc011kvv.1_Missense_Mutation_p.E611K|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	802	Potential.						nucleotide binding|RNA binding			ovary(1)	1	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)		ACGCCTAAGAGAAGAAATCCT	0.463													A	155537721	G	A	155537721	3	1	231	1	0	0	0	0	1	0	0	0	13130	943	33	4	2458	4	RBM33	7	155537721	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	45011031	155537721	3600942	128	116875											
WDR60	55112	broad.mit.edu	37	chr7	158695154	158695154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagaaaaactggaagaacttCctctagctcaaaaaaaggaa	8	7	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr7:158695154C>A	uc003woe.3	+	10	1383	c.1225C>A	c.(1225-1227)CCT>ACT	p.P409T	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	409										ovary(2)|breast(1)|central_nervous_system(1)	4	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)		GGAAGAACTTCCTCTAGCTCA	0.363													A	158695154	C	A	158695154	3	1	231	1	0	0	0	0	1	0	0	0	17308	855	30	5	1263	5	WDR60	7	158695154	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	3157433	158695154	443509	129	116876											
CSMD1	64478	broad.mit.edu	37	chr8	3265708	3265708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggataatttggtgacagaAtaatcccagatgatgccgta	10	7	0	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:3265708A>C	uc011kwk.1	-	14	2177	c.1787T>G	c.(1786-1788)ATT>AGT	p.I596S	CSMD1_uc011kwj.1_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	596	Extracellular (Potential).|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)		TGGTGACAGAATAATCCCAGA	0.368													C	3265708	A	C	3265708	3	2	231	1	0	0	0	0	1	0	0	0	3944	101	4	5	9138	5	CSMD1	8	3265708	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		3265708	143098314	130	116877											
SGCZ	137868	broad.mit.edu	37	chr8	13959935	13959935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaggtggccttgaAgtctcctgcagcagcactca	10	14	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:13959935A>C	uc003wwq.2	-	7	1354	c.694T>G	c.(694-696)TTC>GTC	p.F232V	SGCZ_uc010lss.2_Missense_Mutation_p.F185V	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	219	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTGGCCTTGAAGTCTCCTGCA	0.512													C	13959935	A	C	13959935	3	2	231	1	0	0	0	0	1	0	0	0	14204	72	3	5	252	5	SGCZ	8	13959935	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	10694227	13959935	132404087	131	116878											
TUSC3	7991	broad.mit.edu	37	chr8	15480646	15480646	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagttccagacgctcaatcTtccgaatgaatggtgataaa	10	8	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:15480646T>A	uc003wwt.2	+	2	406	c.196T>A	c.(196-198)TTC>ATC	p.F66I	TUSC3_uc003wwr.2_Missense_Mutation_p.F66I|TUSC3_uc003wws.2_Missense_Mutation_p.F66I|TUSC3_uc003wwu.2_Missense_Mutation_p.F66I|TUSC3_uc003wwv.2_Missense_Mutation_p.F66I|TUSC3_uc003www.2_Missense_Mutation_p.F66I|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F66I	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	66					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		ACGCTCAATCTTCCGAATGAA	0.388													A	15480646	T	A	15480646	3	1	231	1	0	0	0	0	1	0	0	0	16775	1609	56	5	202	5	TUSC3	8	15480646	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1520711	15480646	130883376	132	116879											
TUSC3	7991	broad.mit.edu	37	chr8	15605922	15605922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctggtggtcttcttcTtcagttttctactttcaata	8	9	6	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:15605922T>C	uc003wwt.2	+	9	1186	c.976T>C	c.(976-978)TTC>CTC	p.F326L	TUSC3_uc003wwu.2_Missense_Mutation_p.F326L|TUSC3_uc003wwv.2_Missense_Mutation_p.F326L|TUSC3_uc003www.2_Intron|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	326	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GGTCTTCTTCTTCAGTTTTCT	0.323													C	15605922	T	C	15605922	3	2	231	1	0	0	0	0	1	0	0	0	16775	1609	56	3	1010	3	TUSC3	8	15605922	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	125276	15605922	130758100	133	116880											
RP1	6101	broad.mit.edu	37	chr8	55537320	55537320	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgattgctacttagactattCttttgttcctgaaaagtact	6	7	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:55537320C>G	uc003xsd.1	+	4	1026	c.878C>G	c.(877-879)TCT>TGT	p.S293C	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	293					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			skin(7)|ovary(4)|pancreas(1)	12		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)			TTAGACTATTCTTTTGTTCCT	0.299													G	55537320	C	G	55537320	3	3	231	1	0	0	0	0	1	0	0	0	13532	913	32	5	888	5	RP1	8	55537320	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	39931398	55537320	90826702	134	116881											
RP1	6101	broad.mit.edu	37	chr8	55542278	55542278	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaatctgatattgaaaatTtcttgggtttttatttatgg	8	2	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:55542278T>A	uc003xsd.1	+	4	5984	c.5836T>A	c.(5836-5838)TTC>ATC	p.F1946I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1946					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			skin(7)|ovary(4)|pancreas(1)	12		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)			TATTGAAAATTTCTTGGGTTT	0.343													A	55542278	T	A	55542278	3	1	231	1	0	0	0	0	1	0	0	0	13532	1841	64	5	5846	5	RP1	8	55542278	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4958	55542278	90821744	135	116882											
TRPA1	8989	broad.mit.edu	37	chr8	72951153	72951153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgatgatgccagttgAgttgaaagccattcctggtt	10	7	1	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:72951153A>G	uc003xza.2	-	19	2417	c.2242T>C	c.(2242-2244)TCA>CCA	p.S748P	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	748	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ATGCCAGTTGAGTTGAAAGCC	0.318													G	72951153	A	G	72951153	3	3	231	1	0	0	0	0	1	0	0	0	16574	304	11	3	1153	3	TRPA1	8	72951153	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	17408875	72951153	73412869	136	116883											
CRISPLD1	83690	broad.mit.edu	37	chr8	75924709	75924709	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatctgcagaatcctgggcTgaaagttgcttgtgggaaca	13	7	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:75924709T>A	uc003yan.2	+	3	675	c.300T>A	c.(298-300)GCT>GCA	p.A100A	CRISPLD1_uc011lfk.1_5'UTR|CRISPLD1_uc011lfl.1_5'UTR	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	100						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AATCCTGGGCTGAAAGTTGCT	0.438													A	75924709	T	A	75924709	2	1	231	1	0	0	0	0	0	0	0	1	3882	1567	55	5		5	CRISPLD1	8	75924709	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2973556	75924709	70439313	137	116884											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885921	88885921	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacttggagcctccagcTtcgacttggttcactgtgaa	10	12	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:88885921T>G	uc003ydz.2	-	1	376	c.279A>C	c.(277-279)GAA>GAC	p.E93D		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	93										ovary(1)	1						AGCCTCCAGCTTCGACTTGGT	0.547													G	88885921	T	G	88885921	3	3	231	1	0	0	0	0	1	0	0	0	4272	1606	56	5	912	5	DCAF4L2	8	88885921	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	12961212	88885921	57478101	138	116885											
MMP16	4325	broad.mit.edu	37	chr8	89131066	89131066	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcatgtcccagttcatggActgctacaagaaataagtca	9	9	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:89131066A>C	uc003yeb.3	-	5	1016	c.734T>G	c.(733-735)GTC>GGC	p.V245G	MMP16_uc003yec.2_Missense_Mutation_p.V245G	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	245	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CAGTTCATGGACTGCTACAAG	0.373													C	89131066	A	C	89131066	3	2	231	1	0	0	0	0	1	0	0	0	9655	275	10	5	1269	5	MMP16	8	89131066	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	245145	89131066	57232956	139	116886											
MMP16	4325	broad.mit.edu	37	chr8	89339369	89339369	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaaagcaaggtttgcaAgaaaaacacccccgaatgat	7	10	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:89339369A>C	uc003yeb.3	-	1	349	c.67T>G	c.(67-69)TTG>GTG	p.L23V	MMP16_uc003yec.2_Missense_Mutation_p.L23V	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	23					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						AAGGTTTGCAAGAAAAACACC	0.493													C	89339369	A	C	89339369	3	2	231	1	0	0	0	0	1	0	0	0	9655	69	3	5	1952	5	MMP16	8	89339369	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	208303	89339369	57024653	140	116887											
PGCP	10404	broad.mit.edu	37	chr8	97797501	97797501	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtgatgctggagccaAgaattcataagatagccatc	10	9	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:97797501A>C	uc003yhw.2	+	2	542	c.376A>C	c.(376-378)AGA>CGA	p.R126R	PGCP_uc010mbe.2_Silent_p.R126R	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	126					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					GCTGGAGCCAAGAATTCATAA	0.463													C	97797501	A	C	97797501	2	2	231	1	0	0	0	0	0	0	0	1	11786	64	3	5		5	PGCP	8	97797501	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	8458132	97797501	48566521	141	116888											
UBR5	51366	broad.mit.edu	37	chr8	103357767	103357767	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcatcaaggagagacataAgatcctctataaacagaaac	8	9	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:103357767A>C	uc003ykr.1	-	8	776	c.743T>G	c.(742-744)CTT>CGT	p.L248R	UBR5_uc003yks.1_Missense_Mutation_p.L248R	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	248					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			GAGAGACATAAGATCCTCTAT	0.383													C	103357767	A	C	103357767	3	2	231	1	0	0	0	0	1	0	0	0	16902	72	3	5	7864	5	UBR5	8	103357767	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	5560266	103357767	43006255	142	116889											
DPYS	1807	broad.mit.edu	37	chr8	105436539	105436539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagctattcttccttttcTtggatagagattaaaaattt	5	6	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:105436539T>C	uc003yly.3	-	7	1300	c.1171A>G	c.(1171-1173)AGA>GGA	p.R391G		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	391					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTTTTCTTGGATAGAGA	0.373													C	105436539	T	C	105436539	3	2	231	1	0	0	0	0	1	0	0	0	4746	1617	56	3	400	3	DPYS	8	105436539	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2078772	105436539	40927483	143	116890											
TRHR	7201	broad.mit.edu	37	chr8	110100172	110100172	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacattttccagagccaaaaAgattatcatctttgtctggg	7	9	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:110100172A>T	uc003ymz.3	+	1	447	c.431A>T	c.(430-432)AAG>ATG	p.K144M		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	144	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AGAGCCAAAAAGATTATCATC	0.408													T	110100172	A	T	110100172	3	4	231	1	0	0	0	0	1	0	0	0	16477	72	3	5	433	5	TRHR	8	110100172	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	4663633	110100172	36263850	144	116891											
PKHD1L1	93035	broad.mit.edu	37	chr8	110445390	110445390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggattttctcctagTtcagctgtaacagtctcagt	9	9	4	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:110445390T>G	uc003yne.2	+	28	3389	c.3285T>G	c.(3283-3285)AGT>AGG	p.S1095R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1095	Extracellular (Potential).|IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCTCCTAGTTCAGCTGTAA	0.338										HNSCC(38;0.096)			G	110445390	T	G	110445390	3	3	231	1	0	0	0	0	1	0	0	0	11972	1722	60	5	3395	5	PKHD1L1	8	110445390	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	345218	110445390	35918632	145	116892											
CSMD3	114788	broad.mit.edu	37	chr8	113304877	113304877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttaccacatcattaaAgttgaacccatttccacttg	5	10	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:113304877A>G	uc003ynu.2	-	55	8836	c.8677T>C	c.(8677-8679)TTT>CTT	p.F2893L	CSMD3_uc003yns.2_Missense_Mutation_p.F2095L|CSMD3_uc003ynt.2_Missense_Mutation_p.F2853L|CSMD3_uc011lhx.1_Missense_Mutation_p.F2724L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2893	Extracellular (Potential).|Sushi 19.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACATCATTAAAGTTGAACCCA	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113304877	A	G	113304877	3	3	231	1	0	0	0	0	1	0	0	0	3946	72	3	3	2514	3	CSMD3	8	113304877	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	2859487	113304877	33059145	146	116893											
CSMD3	114788	broad.mit.edu	37	chr8	113348960	113348960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccattcccagggggtactcTtacaagccaaaaacaatctt	7	12	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:113348960T>C	uc003ynu.2	-	44	7099	c.6940A>G	c.(6940-6942)AGA>GGA	p.R2314G	CSMD3_uc003yns.2_Missense_Mutation_p.R1516G|CSMD3_uc003ynt.2_Missense_Mutation_p.R2274G|CSMD3_uc011lhx.1_Missense_Mutation_p.R2210G|CSMD3_uc003ynw.1_Missense_Mutation_p.R25G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2314	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGGGGTACTCTTACAAGCCAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113348960	T	C	113348960	3	2	231	1	0	0	0	0	1	0	0	0	3946	1617	56	3	4295	3	CSMD3	8	113348960	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	44083	113348960	33015062	147	116894											
CSMD3	114788	broad.mit.edu	37	chr8	113933896	113933896	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcactccaagcagcaaaaacTtcagctatccgttgacaggt	7	12	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:113933896T>A	uc003ynu.2	-	10	1752	c.1593A>T	c.(1591-1593)GAA>GAT	p.E531D	CSMD3_uc003ynt.2_Missense_Mutation_p.E491D|CSMD3_uc011lhx.1_Missense_Mutation_p.E427D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	531	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CAGCAAAAACTTCAGCTATCC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113933896	T	A	113933896	3	1	231	1	0	0	0	0	1	0	0	0	3946	1606	56	5	9778	5	CSMD3	8	113933896	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	584936	113933896	32430126	148	116895											
TRPS1	7227	broad.mit.edu	37	chr8	116631822	116631822	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcctttggtgacatcTtctgatcttcctttgtctcc	7	12	4	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:116631822T>G	uc003ynz.2	-	2	923	c.464A>C	c.(463-465)AAG>ACG	p.K155T	TRPS1_uc011lhy.1_Missense_Mutation_p.K159T|TRPS1_uc003yny.2_Missense_Mutation_p.K168T|TRPS1_uc010mcy.2_Missense_Mutation_p.K155T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	155					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TGGTGACATCTTCTGATCTTC	0.517									Langer-Giedion_syndrome				G	116631822	T	G	116631822	3	3	231	1	0	0	0	0	1	0	0	0	16590	1609	56	5	3401	5	TRPS1	8	116631822	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2697926	116631822	29732200	149	116896											
HAS2	3037	broad.mit.edu	37	chr8	122626941	122626941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccattctcggaagtaggacTtgctccaacgggtctgctgg	13	11	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:122626941T>G	uc003yph.2	-	4	1605	c.1067A>C	c.(1066-1068)AAG>ACG	p.K356T		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	356	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	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)			GAAGTAGGACTTGCTCCAACG	0.438													G	122626941	T	G	122626941	3	3	231	1	0	0	0	0	1	0	0	0	6962	1609	56	5	595	5	HAS2	8	122626941	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	5995119	122626941	23737081	150	116897											
TG	7038	broad.mit.edu	37	chr8	133912519	133912519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggcatcgggggctgGcacctggtgtgtggaccctg	18	11	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:133912519G>A	uc003ytw.2	+	15	3409	c.3368G>A	c.(3367-3369)GGC>GAC	p.G1123D	TG_uc010mdw.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1123	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TCGGGGGCTGGCACCTGGTGT	0.617													A	133912519	G	A	133912519	3	1	231	1	0	0	0	0	1	0	0	0	15810	1203	42	2	3426	2	TG	8	133912519	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	11285578	133912519	12451503	151	116898											
ST3GAL1	6482	broad.mit.edu	37	chr8	134477158	134477158	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatggtgggtggtcttggtCccaacatcagcttcaaaccc	11	11	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:134477158C>T	uc003yuk.2	-	7	1375	c.546G>A	c.(544-546)GGG>GGA	p.G182G	ST3GAL1_uc003yum.2_Silent_p.G182G	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	182	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	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)			TGGTCTTGGTCCCAACATCAG	0.567													T	134477158	C	T	134477158	2	4	231	1	0	0	0	0	0	0	0	1	15213	842	30	4		4	ST3GAL1	8	134477158	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	564639	134477158	11886864	152	116899											
FAM135B	51059	broad.mit.edu	37	chr8	139165017	139165017	+	Frame_Shift_Del	DEL	T	T	-													gcattgaaggccaccaggggTtcagctctggaggggttctt							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:139165016_139165016GT>G	uc003yuy.3	-	12	1873	c.1702_1702AC>C	c.(1702-1704)cccfs	p.P568fs	FAM135B_uc003yux.3_Frame_Shift_Del_p.P469fs|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Frame_Shift_Del_p.P130fs|FAM135B_uc003yvb.3_Frame_Shift_Del_p.P130fs	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	568										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)			GCCACCAGGGGTTCAGCTCTG	0.502										HNSCC(54;0.14)			-	139165017	T	-	139165017	7	5	231	1	0	1	0	1	0	0	0	0	5449	1722	60	0	2551	0	FAM135B	8	139165017	Frame_Shift_Del	DEL	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4687859	139165017	7199005	153	116900											
CYP11B1	1584	broad.mit.edu	37	chr8	143956698	143956698	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaagtctgagctcgccacTcgctccagaaacagacccac	7	17	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr8:143956698T>A	uc003yxi.2	-	7	1159	c.1152A>T	c.(1150-1152)CGA>CGT	p.R384R	CYP11B1_uc010mex.2_Silent_p.R83R|CYP11B1_uc003yxh.2_Silent_p.R100R|CYP11B1_uc003yxj.2_Silent_p.R384R|CYP11B1_uc010mey.2_Silent_p.R455R	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	384					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			ovary(3)	3	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)	AGCTCGCCACTCGCTCCAGAA	0.607									Familial_Hyperaldosteronism_type_I				A	143956698	T	A	143956698	2	1	231	1	0	0	0	0	0	0	0	1	4145	1538	54	5		5	CYP11B1	8	143956698	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4791681	143956698	2407324	154	116901											
PTPRD	5789	broad.mit.edu	37	chr9	8436611	8436611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatattcctgggaaaacTtcaagttgtcatttgctttc	6	10	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:8436611T>G	uc003zkk.2	-	34	4778	c.4067A>C	c.(4066-4068)AAG>ACG	p.K1356T	PTPRD_uc003zkp.2_Missense_Mutation_p.K950T|PTPRD_uc003zkq.2_Missense_Mutation_p.K949T|PTPRD_uc003zkr.2_Missense_Mutation_p.K940T|PTPRD_uc003zks.2_Missense_Mutation_p.K949T|PTPRD_uc003zkl.2_Missense_Mutation_p.K1347T|PTPRD_uc003zkm.2_Missense_Mutation_p.K1343T|PTPRD_uc003zkn.2_Missense_Mutation_p.K945T|PTPRD_uc003zko.2_Missense_Mutation_p.K946T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1356	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		CTGGGAAAACTTCAAGTTGTC	0.338										TSP Lung(15;0.13)			G	8436611	T	G	8436611	3	3	231	1	0	0	0	0	1	0	0	0	12799	1609	56	5	1719	5	PTPRD	9	8436611	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		8436611	132776820	155	116902											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18776993	18776993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctcatcagctcgacGcacgtcacggtggccccctt	9	18	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:18776993G>A	uc003zne.3	+	19	2893	c.2766G>A	c.(2764-2766)ACG>ACA	p.T922T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	922	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TCAGCTCGACGCACGTCACGG	0.692													A	18776993	G	A	18776993	2	1	231	1	0	0	0	0	0	0	0	1	274	1074	38	1		1	ADAMTSL1	9	18776993	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	10340382	18776993	122436438	156	116903											
MAMDC2	256691	broad.mit.edu	37	chr9	72783642	72783642	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatgagcctatgcaaaAgtttctgggactgtgggctt	11	7	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:72783642A>T	uc004ahm.2	+	10	2046	c.1429A>T	c.(1429-1431)AGT>TGT	p.S477C	MAMDC2_uc004ahn.2_RNA|uc004aho.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	477	MAM 3.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						CCTATGCAAAAGTTTCTGGGA	0.398													T	72783642	A	T	72783642	3	4	231	1	0	0	0	0	1	0	0	0	9203	72	3	5	1467	5	MAMDC2	9	72783642	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	54006649	72783642	68429789	157	116904											
GRIN3A	116443	broad.mit.edu	37	chr9	104433163	104433163	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctcaagtgtagcttacTtggatgttggaagtgggttt	12	6	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:104433163T>G	uc004bbp.1	-	3	2132	c.1531A>C	c.(1531-1533)AGT>CGT	p.S511R	GRIN3A_uc004bbq.1_Missense_Mutation_p.S511R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	511	Extracellular (Potential).				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			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		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)	TGTAGCTTACTTGGATGTTGG	0.522													G	104433163	T	G	104433163	3	3	231	1	0	0	0	0	1	0	0	0	6783	1609	56	5	1844	5	GRIN3A	9	104433163	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	31649521	104433163	36780268	158	116905											
SVEP1	79987	broad.mit.edu	37	chr9	113276307	113276307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttccaggtggagaggtGtgattttcatcaggacatgg	15	6	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:113276307G>A	uc010mtz.2	-	4	1381	c.1044C>T	c.(1042-1044)CAC>CAT	p.H348H	SVEP1_uc010mua.1_Silent_p.H348H|SVEP1_uc004beu.2_Silent_p.H348H|SVEP1_uc004bev.2_Silent_p.H92H	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	348					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GTGGAGAGGTGTGATTTTCAT	0.512													A	113276307	G	A	113276307	2	1	231	1	0	0	0	0	0	0	0	1	15417	1368	48	4		4	SVEP1	9	113276307	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	8843144	113276307	27937124	159	116906											
C9orf43	257169	broad.mit.edu	37	chr9	116191605	116191605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactctgagctcaaactacTtaggattcttcaggacactg	8	10	4	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:116191605T>G	uc004bho.3	+	14	1721	c.1325T>G	c.(1324-1326)CTT>CGT	p.L442R	C9orf43_uc004bhp.2_Missense_Mutation_p.L442R	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	442											0						CTCAAACTACTTAGGATTCTT	0.517													G	116191605	T	G	116191605	3	3	231	1	0	0	0	0	1	0	0	0	2483	1609	56	5	1375	5	C9orf43	9	116191605	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2915298	116191605	25021826	160	116907											
DBC1	1620	broad.mit.edu	37	chr9	121929578	121929578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagaggagcatcactgaCgaagaggaatagaactggcc	12	8	1	4	rs141113114		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:121929578C>T	uc004bkc.2	-	8	2526	c.2070G>A	c.(2068-2070)TCG>TCA	p.S690S		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	690					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GCATCACTGACGAAGAGGAAT	0.572													T	121929578	C	T	121929578	2	4	231	1	0	0	0	0	0	0	0	1	4247	523	19	1		1	DBC1	9	121929578	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	5737973	121929578	19283853	161	116908											
TTLL11	158135	broad.mit.edu	37	chr9	124751548	124751548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagctctggagtcagcgCgatgaccgtcttaatcacca	10	11	4	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:124751548C>T	uc004blt.1	-	4	1653	c.1465G>A	c.(1465-1467)GCG>ACG	p.A489T	TTLL11_uc011lyl.1_Missense_Mutation_p.A489T|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.A166T|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	489	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						GGAGTCAGCGCGATGACCGTC	0.542													T	124751548	C	T	124751548	3	4	231	1	0	0	0	0	1	0	0	0	16721	768	27	1	1039	1	TTLL11	9	124751548	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	2821970	124751548	16461883	162	116909											
TTLL11	158135	broad.mit.edu	37	chr9	124751858	124751858	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatacagacgaatatcaaaCttgagcttgtcgataaggag	9	7	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:124751858C>G	uc004blt.1	-	4	1343	c.1155G>C	c.(1153-1155)AAG>AAC	p.K385N	TTLL11_uc011lyl.1_Missense_Mutation_p.K385N|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.K62N|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	385	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						GAATATCAAACTTGAGCTTGT	0.493													G	124751858	C	G	124751858	3	3	231	1	0	0	0	0	1	0	0	0	16721	564	20	5	1349	5	TTLL11	9	124751858	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	310	124751858	16461573	163	116910											
SLC27A4	10999	broad.mit.edu	37	chr9	131117714	131117714	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgagctgggctacctgtaCttccgagaccgcactgggga	14	12	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr9:131117714C>A	uc004but.2	+	11	1784	c.1500C>A	c.(1498-1500)TAC>TAA	p.Y500*	SLC27A4_uc004buu.2_Nonsense_Mutation_p.Y94*	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	500					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GCTACCTGTACTTCCGAGACC	0.642													A	131117714	C	A	131117714	4	1	231	1	0	0	0	0	0	1	0	0	14528	576	20	5	1538	5	SLC27A4	9	131117714	Nonsense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	6365856	131117714	10095717	164	116911											
ARMC4	55130	broad.mit.edu	37	chr10	28270420	28270420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagacatattttctgaaaatTttggtgatttttctcttaaa	5	4	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr10:28270420T>G	uc009xky.2	-	7	1009	c.911A>C	c.(910-912)AAA>ACA	p.K304T	ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_5'UTR|ARMC4_uc001itz.2_Missense_Mutation_p.K304T|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	304							binding			ovary(4)|skin(2)	6						TTCTGAAAATTTTGGTGATTT	0.294													G	28270420	T	G	28270420	3	3	231	1	0	0	0	0	1	0	0	0	953	1841	64	5	2279	5	ARMC4	10	28270420	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		28270420	107264327	165	116912											
ERCC6	2074	broad.mit.edu	37	chr10	50681583	50681583	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtagtggtaccatccatcttGagataggtatacttttgggc	11	7	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr10:50681583G>C	uc001jhs.3	-	14	2803	c.2649C>G	c.(2647-2649)CTC>CTG	p.L883L	ERCC6_uc009xod.2_Silent_p.L43L|ERCC6_uc010qgr.1_Silent_p.L253L|ERCC6_uc001jhr.3_Silent_p.L251L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	883	Helicase C-terminal.				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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CATCCATCTTGAGATAGGTAT	0.433								Direct_reversal_of_damage|NER					C	50681583	G	C	50681583	2	2	231	1	0	0	0	0	0	0	0	1	5217	1277	45	5		5	ERCC6	10	50681583	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	22411163	50681583	84853164	166	116913											
PCDH15	65217	broad.mit.edu	37	chr10	55581742	55581742	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagggcacatagtttgaAgttctgaaacatttgtgcgt	11	6	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr10:55581742A>C	uc001jju.1	-	33	6139	c.5744T>G	c.(5743-5745)CTT>CGT	p.L1915R	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.L769R|PCDH15_uc010qhv.1_Missense_Mutation_p.L1912R|PCDH15_uc010qhw.1_Missense_Mutation_p.L1875R|PCDH15_uc010qhx.1_Missense_Mutation_p.L1846R|PCDH15_uc010qhy.1_Missense_Mutation_p.L1922R|PCDH15_uc010qhz.1_Missense_Mutation_p.L1917R|PCDH15_uc010qia.1_Missense_Mutation_p.L1895R|PCDH15_uc010qib.1_Missense_Mutation_p.L1892R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1915	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CATAGTTTGAAGTTCTGAAAC	0.343										HNSCC(58;0.16)			C	55581742	A	C	55581742	3	2	231	1	0	0	0	0	1	0	0	0	11511	72	3	5	1733	5	PCDH15	10	55581742	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	4900159	55581742	79953005	167	116914											
NRBF2	29982	broad.mit.edu	37	chr10	64913946	64913946	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcctcttatggagctctctGaggatattctgaaaggattt	9	7	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr10:64913946G>A	uc001jmj.3	+	4	1056	c.832G>A	c.(832-834)GAG>AAG	p.E278K	NRBF2_uc010qip.1_Missense_Mutation_p.E268K	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	278					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding				0	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGAGCTCTCTGAGGATATTCT	0.393													A	64913946	G	A	64913946	3	1	231	1	0	0	0	0	1	0	0	0	10641	1291	45	4	846	4	NRBF2	10	64913946	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	9332204	64913946	70620801	168	116915											
C10orf12	26148	broad.mit.edu	37	chr10	98742710	98742710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgctgacagatgcctAagaaatcagagttcagattc	8	10	3	5			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr10:98742710A>G	uc001kmv.2	+	1	1670	c.1563A>G	c.(1561-1563)CTA>CTG	p.L521L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	521										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACAGATGCCTAAGAAATCAGA	0.408													G	98742710	A	G	98742710	2	3	231	1	0	0	0	0	0	0	0	1	1589	349	13	3		3	C10orf12	10	98742710	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	33828764	98742710	36792037	169	116916											
CPXM2	119587	broad.mit.edu	37	chr10	125506356	125506356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgggctgcttcccaaacTtctccatgatctctcggatc	8	14	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr10:125506356T>G	uc001lhk.1	-	14	2520	c.2195A>C	c.(2194-2196)AAG>ACG	p.K732T	CPXM2_uc001lhj.2_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	732					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		CTTCCCAAACTTCTCCATGAT	0.582													G	125506356	T	G	125506356	3	3	231	1	0	0	0	0	1	0	0	0	3838	1609	56	5	79	5	CPXM2	10	125506356	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	26763646	125506356	10028391	170	116917											
MUC5B	727897	broad.mit.edu	37	chr11	1284366	1284366	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgggtgcagagcggggccttCcccacaccggggcctgcctc	15	16	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:1284366C>G	uc009ycr.1	+	73	18549	c.18423C>G	c.(18421-18423)TTC>TTG	p.F6141L		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:Variant_position_missing_in_Q9HC84_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GCGGGGCCTTCCCCACACCGG	0.652													G	1284366	C	G	1284366	3	3	231	1	0	0	0	0	1	0	0	0	9979	870	30	5		5	MUC5B	11	1284366	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08		1284366	133722150	171	116918											
IGF2	3481	broad.mit.edu	37	chr11	2154862	2154862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactcctcaacgatgccaCggctgcgacggctcacacgg	11	16	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:2154862C>T	uc009yde.2	-	3	294	c.191G>A	c.(190-192)CGT>CAT	p.R64H	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R64H|IGF2_uc009ydf.2_Missense_Mutation_p.R120H|IGF2_uc001lvh.2_Missense_Mutation_p.R64H|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	64	C.				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)	1		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)		AACGATGCCACGGCTGCGACG	0.657													T	2154862	C	T	2154862	3	4	231	1	0	0	0	0	1	0	0	0	7572	536	19	1	359	1	IGF2	11	2154862	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	870496	2154862	132851654	172	116919											
OR52A1	23538	broad.mit.edu	37	chr11	5172765	5172765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtaaatgctagaaaAgagaatatggatataagggg	12	3	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:5172765A>G	uc010qyy.1	-	1	835	c.835T>C	c.(835-837)TTT>CTT	p.F279L		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		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)		ATGCTAGAAAAGAGAATATGG	0.433													G	5172765	A	G	5172765	3	3	231	1	0	0	0	0	1	0	0	0	11108	72	3	3	105	3	OR52A1	11	5172765	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3017903	5172765	129833751	173	116920											
HBD	3045	broad.mit.edu	37	chr11	5255610	5255610	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgcatccacgttcacTttgccccacagggcattgac	7	16	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:5255610T>G	uc001maf.1	-	1	249	c.54A>C	c.(52-54)AAA>AAC	p.K18N		NM_000519	NP_000510	P02042	HBD_HUMAN	delta globin	18					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			ovary(1)	1		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)		CCACGTTCACTTTGCCCCACA	0.502													G	5255610	T	G	5255610	3	3	231	1	0	0	0	0	1	0	0	0	6979	1606	56	5	401	5	HBD	11	5255610	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	82845	5255610	129750906	174	116921											
OR52N5	390075	broad.mit.edu	37	chr11	5799454	5799454	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggtagcataacgcaaaggGtagcaaatggctacatagcg	13	7	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:5799454G>C	uc010qzn.1	-	1	411	c.411C>G	c.(409-411)TAC>TAG	p.Y137*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		AACGCAAAGGGTAGCAAATGG	0.507													C	5799454	G	C	5799454	4	2	231	1	0	0	0	0	0	1	0	0	11130	1256	44	5	567	5	OR52N5	11	5799454	Nonsense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	543844	5799454	129207062	175	116922											
NAV2	89797	broad.mit.edu	37	chr11	20066813	20066813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtctgctggtcggaagTcaagtatggatggggctcag	17	7	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:20066813T>G	uc010rdm.1	+	15	3929	c.3568T>G	c.(3568-3570)TCA>GCA	p.S1190A	NAV2_uc001mpp.2_Missense_Mutation_p.S1103A|NAV2_uc001mpr.3_Missense_Mutation_p.S1167A|NAV2_uc001mpt.2_Missense_Mutation_p.S253A|NAV2_uc009yhx.2_Missense_Mutation_p.S253A|NAV2_uc009yhy.1_Missense_Mutation_p.S166A	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1190						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGGTCGGAAGTCAAGTATGGA	0.557													G	20066813	T	G	20066813	3	3	231	1	0	0	0	0	1	0	0	0	10184	1667	58	5	3662	5	NAV2	11	20066813	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	14267359	20066813	114939703	176	116923											
OR4A47	403253	broad.mit.edu	37	chr11	48510658	48510658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctttatcgagcacatttTcggtgggtcagaggtctttc	11	9	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:48510658T>C	uc010rhx.1	+	1	314	c.314T>C	c.(313-315)TTC>TCC	p.F105S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAGCACATTTTCGGTGGGTCA	0.453													C	48510658	T	C	48510658	3	2	231	1	0	0	0	0	1	0	0	0	11042	1783	62	3	316	3	OR4A47	11	48510658	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	28443845	48510658	86495858	177	116924											
OR5L2	26338	broad.mit.edu	37	chr11	55595086	55595086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctgtaaccccctgcTgtacatggtgaccatgtctc	9	14	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:55595086T>C	uc001nhy.1	+	1	392	c.392T>C	c.(391-393)CTG>CCG	p.L131P		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				AACCCCCTGCTGTACATGGTG	0.522										HNSCC(27;0.073)			C	55595086	T	C	55595086	3	2	231	1	0	0	0	0	1	0	0	0	11171	1580	55	3	394	3	OR5L2	11	55595086	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	7084428	55595086	79411430	178	116925											
OR5L2	26338	broad.mit.edu	37	chr11	55595254	55595254	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaccccctctcctaagtcTtgcttgctctgatgtcactg	6	15	5	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:55595254T>G	uc001nhy.1	+	1	560	c.560T>G	c.(559-561)CTT>CGT	p.L187R		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CTCCTAAGTCTTGCTTGCTCT	0.453										HNSCC(27;0.073)			G	55595254	T	G	55595254	3	3	231	1	0	0	0	0	1	0	0	0	11171	1609	56	5	562	5	OR5L2	11	55595254	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	168	55595254	79411262	179	116926											
CTNND1	1500	broad.mit.edu	37	chr11	57577603	57577603	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgctcagaaaaagaagttCgagcagcagcacttgtatta	9	9	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:57577603C>T	uc001nmc.3	+	16	3029	c.2458C>T	c.(2458-2460)CGA>TGA	p.R820*	CTNND1_uc001nlh.1_Nonsense_Mutation_p.R820*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nls.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.R820*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.R766*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.R766*|CTNND1_uc001nme.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nll.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.R760*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.R497*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.R497*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.R491*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nly.3_Nonsense_Mutation_p.R491*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.R491*|CTNND1_uc001nma.3_Nonsense_Mutation_p.R491*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.R719*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.R719*|CTNND1_uc001nln.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nli.3_Nonsense_Mutation_p.R814*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.R713*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.R713*	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	820	ARM 10.				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(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				AAAAGAAGTTCGAGCAGCAGC	0.398													T	57577603	C	T	57577603	4	4	231	1	0	0	0	0	0	1	0	0	4019	876	31	1	2512	1	CTNND1	11	57577603	Nonsense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	1982349	57577603	77428913	180	116927											
MPEG1	219972	broad.mit.edu	37	chr11	58979956	58979956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggaactcagtggaaaacTtgccattgactttggaaaaa	9	7	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:58979956T>C	uc001nnu.3	-	1	539	c.383A>G	c.(382-384)AAG>AGG	p.K128R		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	128	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				AGTGGAAAACTTGCCATTGAC	0.448													C	58979956	T	C	58979956	3	2	231	1	0	0	0	0	1	0	0	0	9723	1609	56	3	1771	3	MPEG1	11	58979956	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1402353	58979956	76026560	181	116928											
MTA2	9219	broad.mit.edu	37	chr11	62365105	62365105	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaccacaagaaactggtcGatctgccggtctgtgagagg	13	11	2	2	rs141754862		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:62365105G>A	uc001ntq.1	-	7	951	c.570C>T	c.(568-570)ATC>ATT	p.I190I	MTA2_uc010rlx.1_Silent_p.I17I	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	190	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GAAACTGGTCGATCTGCCGGT	0.542													A	62365105	G	A	62365105	2	1	231	1	0	0	0	0	0	0	0	1	9909	1048	37	1		1	MTA2	11	62365105	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	3385149	62365105	72641411	182	116929											
C11orf48	79081	broad.mit.edu	37	chr11	62430750	62430752	+	In_Frame_Del	DEL	GGA	GGA	-													ctgggcaagccggatctgctGgaggagttttctgcgcttct							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:62430749_62430751TGGA>T	uc001nuf.3	-	5	934_936	c.718_720TCCA>A	c.(718-720)cca>A	p.P240del	METTL12_uc001nug.1_5'Flank|METTL12_uc001nuh.3_5'Flank|SNORA57_uc009yoa.1_5'Flank|METTL12_uc010rmc.1_5'Flank	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	Homo sapiens chromosome 11 open reading frame 48 (C11orf48), mRNA.	266										endometrium(1)|lung(5)|urinary_tract(1)	7						CCGGATCTGCTGGAGGAGTTTTC	0.502													-	62430752	GGA	-	62430750	7	5	231	1	0	1	0	1	0	0	0	0	1644	1348	47	0	80	0	C11orf48	11	62430750	In_Frame_Del	DEL	GGA	TCGA-D7-A4Z0-01A-22D-A25D-08	65645	62430750	72575766	183	116930											
DDI1	414301	broad.mit.edu	37	chr11	103908695	103908695	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagatgagtcttcggacaAggaaattacacattcagtca	9	8	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:103908695A>C	uc001phr.2	+	1	1388	c.1145A>C	c.(1144-1146)AAG>ACG	p.K382T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	382					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		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)		TCTTCGGACAAGGAAATTACA	0.473													C	103908695	A	C	103908695	3	2	231	1	0	0	0	0	1	0	0	0	4328	72	3	5	1147	5	DDI1	11	103908695	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	41477945	103908695	31097821	184	116931											
ZNF259	8882	broad.mit.edu	37	chr11	116653713	116653713	+	Silent	SNP	T	T	C													gccattcccagttcaaattcTagctctgggatttccacact							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:116653713T>C	uc001ppp.2	-	11	1047	c.1014A>G	c.(1012-1014)CTA>CTG	p.L338L	ZNF259_uc009yzd.2_Silent_p.L338L|ZNF259_uc001ppq.2_Silent_p.L268L	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	338					cell proliferation|signal transduction	cytoplasm|nucleolus					0	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;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GTTCAAATTCTAGCTCTGGGA	0.502													C	116653713	T	C	116653713	2	2	231	1	0	0	0	0	0	0	0	1	17798	1509	53	3		3	ZNF259	11	116653713	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	12745018	116653713	18352803	185	116932	558	2									
ZNF259	8882	broad.mit.edu	37	chr11	116653717	116653717	+	Missense_Mutation	SNP	T	T	C													ttcccagttcaaattctagcTctgggatttccacactgcaa							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:116653717T>C	uc001ppp.2	-	11	1043	c.1010A>G	c.(1009-1011)GAG>GGG	p.E337G	ZNF259_uc009yzd.2_Missense_Mutation_p.E337G|ZNF259_uc001ppq.2_Missense_Mutation_p.E267G	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	337					cell proliferation|signal transduction	cytoplasm|nucleolus					0	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;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		AAATTCTAGCTCTGGGATTTC	0.498													C	116653717	T	C	116653717	3	2	231	1	0	0	0	0	1	0	0	0	17798	1551	54	3	385	3	ZNF259	11	116653717	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4	116653717	18352799	186	116933	558	2									
DSCAML1	57453	broad.mit.edu	37	chr11	117332257	117332257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgaccaggagatgacGgccacgtcagaagtgatgga	15	9	2	5			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:117332257G>A	uc001prh.1	-	18	3503	c.3501C>T	c.(3499-3501)GCC>GCT	p.A1167A		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1107	Fibronectin type-III 3.|Extracellular (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		AGGAGATGACGGCCACGTCAG	0.617													A	117332257	G	A	117332257	2	1	231	1	0	0	0	0	0	0	0	1	4769	1103	39	1		1	DSCAML1	11	117332257	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	678540	117332257	17674259	187	116934											
OR4D5	219875	broad.mit.edu	37	chr11	123810958	123810958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccctgatgtgttttcTggtgcttctgggatcgtaca	13	8	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:123810958T>C	uc001pzk.1	+	1	635	c.635T>C	c.(634-636)CTG>CCG	p.L212P		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		ATGTGTTTTCTGGTGCTTCTG	0.522													C	123810958	T	C	123810958	3	2	231	1	0	0	0	0	1	0	0	0	11057	1580	55	3	637	3	OR4D5	11	123810958	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	6478701	123810958	11195558	188	116935											
OR10G9	219870	broad.mit.edu	37	chr11	123894603	123894603	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaacaaggaggtgaAgaaagctgtgttgaaactga	13	5	0	5			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:123894603A>C	uc010sad.1	+	1	884	c.884A>C	c.(883-885)AAG>ACG	p.K295T		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		AAGGAGGTGAAGAAAGCTGTG	0.423													C	123894603	A	C	123894603	3	2	231	1	0	0	0	0	1	0	0	0	10904	72	3	5	886	5	OR10G9	11	123894603	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	83645	123894603	11111913	189	116936											
ROBO4	54538	broad.mit.edu	37	chr11	124756666	124756666	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgggacgctgatgtAcccataggtggtggggggtg	20	6	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:124756666A>T	uc001qbg.2	-	16	2628	c.2488T>A	c.(2488-2490)TAC>AAC	p.Y830N	ROBO4_uc010sas.1_Missense_Mutation_p.Y685N|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.Y388N	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	830					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACGCTGATGTACCCATAGGTG	0.622													T	124756666	A	T	124756666	3	4	231	1	0	0	0	0	1	0	0	0	13516	391	14	5	547	5	ROBO4	11	124756666	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	862063	124756666	10249850	190	116937											
JAM3	83700	broad.mit.edu	37	chr11	134010576	134010576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgtcttgcatcattaCggattcgcagacaagtgacc	10	10	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr11:134010576C>T	uc001qhb.1	+	3	326	c.302C>T	c.(301-303)ACG>ATG	p.T101M	JAM3_uc009zcz.1_Missense_Mutation_p.T101M	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	56	Extracellular (Potential).|Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TGCATCATTACGGATTCGCAG	0.448													T	134010576	C	T	134010576	3	4	231	1	0	0	0	0	1	0	0	0	7944	536	19	1	312	1	JAM3	11	134010576	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	9253910	134010576	995940	191	116938											
CLEC12A	160364	broad.mit.edu	37	chr12	10124213	10124213	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtctgaagaagttacTtatgcagatcttcaattcca	6	8	4	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:10124213T>G	uc001qwr.3	+	1	206	c.18T>G	c.(16-18)ACT>ACG	p.T6T	CLEC12A_uc001qwq.2_Silent_p.T16T|CLEC12A_uc001qws.3_Silent_p.T6T|CLEC12A_uc001qwt.2_5'UTR	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	6	Cytoplasmic (Potential).|ITIM motif.					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						AAGAAGTTACTTATGCAGATC	0.343													G	10124213	T	G	10124213	2	3	231	1	0	0	0	0	0	0	0	1	3497	1596	56	5		5	CLEC12A	12	10124213	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		10124213	123727682	192	116939											
GSG1	83445	broad.mit.edu	37	chr12	13240138	13240138	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtcttctggacccaAgttgacagtcgcttggaaga	10	11	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:13240138A>C	uc001rbn.2	-	6	867	c.694T>G	c.(694-696)TTG>GTG	p.L232V	GSG1_uc001rbj.2_Missense_Mutation_p.L196V|GSG1_uc001rbk.2_Missense_Mutation_p.L237R|GSG1_uc001rbl.2_Missense_Mutation_p.L168V|GSG1_uc001rbm.2_Missense_Mutation_p.L145V|GSG1_uc001rbo.2_Missense_Mutation_p.L273R|GSG1_uc001rbp.2_Missense_Mutation_p.L209V|GSG1_uc001rbq.1_Missense_Mutation_p.L273R	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	219						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCTGGACCCAAGTTGACAGTC	0.512													C	13240138	A	C	13240138	3	2	231	1	0	0	0	0	1	0	0	0	6820	72	3	5	402	5	GSG1	12	13240138	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3115925	13240138	120611757	193	116940											
RERG	85004	broad.mit.edu	37	chr12	15262280	15262280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcctggagtggtccaAgtcagctttgtttccaacca	9	12	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:15262280A>G	uc001rcs.2	-	4	504	c.364T>C	c.(364-366)TTG>CTG	p.L122L	RERG_uc001rct.2_Silent_p.L122L|RERG_uc010shu.1_Silent_p.L103L	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	122					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			lung(1)	1						GAGTGGTCCAAGTCAGCTTTG	0.483													G	15262280	A	G	15262280	2	3	231	1	0	0	0	0	0	0	0	1	13232	69	3	3		3	RERG	12	15262280	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	2022142	15262280	118589615	194	116941											
OVCH1	341350	broad.mit.edu	37	chr12	29644030	29644030	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcattttggtgtctcttacTtttggaaatcttgccccatc	7	10	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:29644030T>G	uc001rix.1	-	5	550	c.550A>C	c.(550-552)ACA>CCA	p.T184P		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	184	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGTCTCTTACTTTTGGAAATC	0.398													G	29644030	T	G	29644030	3	3	231	1	0	0	0	0	1	0	0	0	11323	1623	56	5	2950	5	OVCH1	12	29644030	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	14381750	29644030	104207865	195	116942											
NEUROD4	58158	broad.mit.edu	37	chr12	55420426	55420426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagatggggagaaacctaAgagaaggggtcccaagaaaa	14	5	0	5	rs76064726	by1000genomes	TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:55420426A>G	uc001sgp.3	+	2	581	c.203A>G	c.(202-204)AAG>AGG	p.K68R		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	68			K -> T.		amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						GAGAAACCTAAGAGAAGGGGT	0.433													G	55420426	A	G	55420426	3	3	231	1	0	0	0	0	1	0	0	0	10350	72	3	3	205	3	NEUROD4	12	55420426	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	25776396	55420426	78431469	196	116943											
C12orf63	374467	broad.mit.edu	37	chr12	97085072	97085072	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatacgtgaactgcactttgTtaggcaaaacctaatagtaa	7	7	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:97085072T>G	uc001tet.1	+	11	1601	c.1523T>G	c.(1522-1524)GTT>GGT	p.V508G		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	508										skin(6)|ovary(1)	7						CTGCACTTTGTTAGGCAAAAC	0.333													G	97085072	T	G	97085072	3	3	231	1	0	0	0	0	1	0	0	0	1706	1725	60	5	1561	5	C12orf63	12	97085072	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	41664646	97085072	36766823	197	116944											
C12orf63	374467	broad.mit.edu	37	chr12	97158013	97158013	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattagcctggattgcaataAgagctgctgcacaggttggt	12	8	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:97158013A>C	uc001tet.1	+	26	3478	c.3400A>C	c.(3400-3402)AGA>CGA	p.R1134R		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1134										skin(6)|ovary(1)	7						GATTGCAATAAGAGCTGCTGC	0.343													C	97158013	A	C	97158013	2	2	231	1	0	0	0	0	0	0	0	1	1706	64	3	5		5	C12orf63	12	97158013	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	72941	97158013	36693882	198	116945											
FAM71C	196472	broad.mit.edu	37	chr12	100043118	100043118	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaattcagaatcagtagacTtcacatgaatgctgaaatgt	8	7	3	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:100043118T>G	uc001tgn.2	+	2	1090	c.668T>G	c.(667-669)CTT>CGT	p.L223R	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	223											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATCAGTAGACTTCACATGAAT	0.398													G	100043118	T	G	100043118	3	3	231	1	0	0	0	0	1	0	0	0	5609	1609	56	5	674	5	FAM71C	12	100043118	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2885105	100043118	33808777	199	116946											
BTBD11	121551	broad.mit.edu	37	chr12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttctgtctgctgctaAgtttttccagctggaggctt	10	9	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:108045467A>C	uc001tmk.1	+	16	3529	c.3008A>C	c.(3007-3009)AAG>ACG	p.K1003T	BTBD11_uc001tml.1_Missense_Mutation_p.K540T|BTBD11_uc001tmm.1_Missense_Mutation_p.K82T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1003						integral to membrane	DNA binding			skin(2)|ovary(1)	3						TCTGCTGCTAAGTTTTTCCAG	0.438													C	108045467	A	C	108045467	3	2	231	1	0	0	0	0	1	0	0	0	1539	72	3	5	3175	5	BTBD11	12	108045467	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	8002349	108045467	25806428	200	116947											
CCDC63	160762	broad.mit.edu	37	chr12	111342574	111342574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgggggctgaccccTtcagcgacaggttggatgat	15	10	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:111342574T>G	uc001trv.1	+	11	1720	c.1525T>G	c.(1525-1527)TTC>GTC	p.F509V	CCDC63_uc010sye.1_Missense_Mutation_p.F469V|CCDC63_uc001trw.1_Missense_Mutation_p.F424V	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	509										skin(6)|ovary(1)|pancreas(1)	8						GGCTGACCCCTTCAGCGACAG	0.597													G	111342574	T	G	111342574	3	3	231	1	0	0	0	0	1	0	0	0	2834	1609	56	5	1563	5	CCDC63	12	111342574	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	3297107	111342574	22509321	201	116948											
RBM19	9904	broad.mit.edu	37	chr12	114395629	114395629	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctttttcccagctggcatCccttgctcttggcctgcacc	7	17	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:114395629C>T	uc009zwi.2	-	6	942	c.798G>A	c.(796-798)GGG>GGA	p.G266G	RBM19_uc001tvn.3_Silent_p.G266G|RBM19_uc001tvm.2_Silent_p.G266G	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	266					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGCTGGCATCCCTTGCTCTT	0.627													T	114395629	C	T	114395629	2	4	231	1	0	0	0	0	0	0	0	1	13121	842	30	4		4	RBM19	12	114395629	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	3053055	114395629	19456266	202	116949											
MED13L	23389	broad.mit.edu	37	chr12	116457702	116457702	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgccattcctcaatcaacTtacgagtggctgggtctgac	9	12	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:116457702T>G	uc001tvw.2	-	6	756	c.701A>C	c.(700-702)AAG>ACG	p.K234T		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	234					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCAATCAACTTACGAGTGGC	0.443													G	116457702	T	G	116457702	3	3	231	1	0	0	0	0	1	0	0	0	9431	1609	56	5	6035	5	MED13L	12	116457702	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2062073	116457702	17394193	203	116950											
TMEM132D	121256	broad.mit.edu	37	chr12	129558890	129558890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtttgtgtctgtattTtaatgcaaaggtcacacagt	8	7	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr12:129558890T>G	uc009zyl.1	-	9	3158	c.2830A>C	c.(2830-2832)AAA>CAA	p.K944Q	TMEM132D_uc001uia.2_Missense_Mutation_p.K482Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	944	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		TGTCTGTATTTTAATGCAAAG	0.458													G	129558890	T	G	129558890	3	3	231	1	0	0	0	0	1	0	0	0	16044	1850	64	5	473	5	TMEM132D	12	129558890	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	13101188	129558890	4293005	204	116951											
TPTE2	93492	broad.mit.edu	37	chr13	20041386	20041386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatattcctaagcaacTtaatgtcaaaaaaaatgtaa	6	5	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:20041386T>G	uc001umd.2	-	8	702	c.491A>C	c.(490-492)AAG>ACG	p.K164T	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	164	Helical; (Potential).					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				0		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)		CCTAAGCAACTTAATGTCAAA	0.303													G	20041386	T	G	20041386	3	3	231	1	0	0	0	0	1	0	0	0	16428	1609	56	5	1133	5	TPTE2	13	20041386	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		20041386	95128492	205	116952											
SACS	26278	broad.mit.edu	37	chr13	23908498	23908498	+	Missense_Mutation	SNP	A	A	C													ttcatgatatgttgttagaaActtgggtcgttttgcatcaa							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:23908498A>C	uc001uon.2	-	10	10106	c.9517T>G	c.(9517-9519)TTT>GTT	p.F3173V	SACS_uc001uoo.2_Missense_Mutation_p.F3026V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3173					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GTTGTTAGAAACTTGGGTCGT	0.328													C	23908498	A	C	23908498	3	2	231	1	0	0	0	0	1	0	0	0	13804	43	2	5	4226	5	SACS	13	23908498	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3867112	23908498	91261380	206	116953	559	2									
SACS	26278	broad.mit.edu	37	chr13	23908500	23908500	+	Missense_Mutation	SNP	T	T	G													catgatatgttgttagaaacTtgggtcgttttgcatcaaaa							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:23908500T>G	uc001uon.2	-	10	10104	c.9515A>C	c.(9514-9516)AAG>ACG	p.K3172T	SACS_uc001uoo.2_Missense_Mutation_p.K3025T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3172					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TGTTAGAAACTTGGGTCGTTT	0.323													G	23908500	T	G	23908500	3	3	231	1	0	0	0	0	1	0	0	0	13804	1609	56	5	4228	5	SACS	13	23908500	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2	23908500	91261378	207	116954	559	2									
RNF17	56163	broad.mit.edu	37	chr13	25367370	25367370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatttagaagcaaaaaacTtccagccacagaaagacgtt	6	9	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:25367370T>G	uc001upr.2	+	10	1167	c.1126T>G	c.(1126-1128)TTC>GTC	p.F376V	RNF17_uc010tdd.1_Missense_Mutation_p.F235V|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.F376V|RNF17_uc001ups.2_Missense_Mutation_p.F315V|RNF17_uc001upq.1_Missense_Mutation_p.F376V	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	376					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		AGCAAAAAACTTCCAGCCACA	0.418													G	25367370	T	G	25367370	3	3	231	1	0	0	0	0	1	0	0	0	13461	1609	56	5	1164	5	RNF17	13	25367370	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1458870	25367370	89802508	208	116955											
ATP8A2	51761	broad.mit.edu	37	chr13	26436488	26436488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctggctggtgttttTtggcatctactcgaccatct	10	11	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:26436488T>C	uc001uqk.2	+	33	3267	c.3125T>C	c.(3124-3126)TTT>TCT	p.F1042S	ATP8A2_uc010tdi.1_Missense_Mutation_p.F977S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.F592S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	1002	Helical; (Potential).				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			ovary(2)|large_intestine(1)|skin(1)	4		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)		CTGGTGTTTTTTGGCATCTAC	0.517													C	26436488	T	C	26436488	3	2	231	1	0	0	0	0	1	0	0	0	1193	1841	64	3	3255	3	ATP8A2	13	26436488	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1069118	26436488	88733390	209	116956											
FLT1	2321	broad.mit.edu	37	chr13	28959121	28959121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtggaactgctgatggCcactgtgtgatcactgaggt	15	7	1	3	rs137937570		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:28959121C>T	uc001usb.3	-	14	2302	c.2017G>A	c.(2017-2019)GCC>ACC	p.A673T	FLT1_uc010aar.1_Missense_Mutation_p.A673T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	673	Ig-like C2-type 7.|Extracellular (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	CTGCTGATGGCCACTGTGTGA	0.448													T	28959121	C	T	28959121	3	4	231	1	0	0	0	0	1	0	0	0	5941	739	26	2	2157	2	FLT1	13	28959121	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	2522633	28959121	86210757	210	116957											
NBEA	26960	broad.mit.edu	37	chr13	35758142	35758142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccatctatccctcatccaAgtttgaaccatggattcctt	4	13	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:35758142A>G	uc001uvb.2	+	30	5067	c.4861A>G	c.(4861-4863)AGT>GGT	p.S1621G	NBEA_uc010abi.2_Intron	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1621						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CCCTCATCCAAGTTTGAACCA	0.443													G	35758142	A	G	35758142	3	3	231	1	0	0	0	0	1	0	0	0	10187	72	3	3	4979	3	NBEA	13	35758142	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	6799021	35758142	79411736	211	116958											
POSTN	10631	broad.mit.edu	37	chr13	38160293	38160293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttcggaagccactttgTctcccatgatcctttctagg	7	13	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:38160293T>C	uc001uwo.3	-	7	996	c.878A>G	c.(877-879)GAC>GGC	p.D293G	POSTN_uc001uwp.3_Missense_Mutation_p.D293G|POSTN_uc001uwr.2_Missense_Mutation_p.D293G|POSTN_uc001uwq.2_Missense_Mutation_p.D293G|POSTN_uc010teu.1_Missense_Mutation_p.D293G|POSTN_uc010tev.1_Missense_Mutation_p.D293G|POSTN_uc010tew.1_Missense_Mutation_p.D293G|POSTN_uc010tex.1_Missense_Mutation_p.D208G	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	293	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		AGCCACTTTGTCTCCCATGAT	0.453													C	38160293	T	C	38160293	3	2	231	1	0	0	0	0	1	0	0	0	12259	1667	58	3	1700	3	POSTN	13	38160293	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2402151	38160293	77009585	212	116959											
POSTN	10631	broad.mit.edu	37	chr13	38162024	38162024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaataatcatgccatTttttaagtccttggtcaaca	7	7	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:38162024T>G	uc001uwo.3	-	5	659	c.541A>C	c.(541-543)AAT>CAT	p.N181H	POSTN_uc001uwp.3_Missense_Mutation_p.N181H|POSTN_uc001uwr.2_Missense_Mutation_p.N181H|POSTN_uc001uwq.2_Missense_Mutation_p.N181H|POSTN_uc010teu.1_Missense_Mutation_p.N181H|POSTN_uc010tev.1_Missense_Mutation_p.N181H|POSTN_uc010tew.1_Missense_Mutation_p.N181H|POSTN_uc010tex.1_Missense_Mutation_p.N96H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	181	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		ATCATGCCATTTTTTAAGTCC	0.328													G	38162024	T	G	38162024	3	3	231	1	0	0	0	0	1	0	0	0	12259	1841	64	5	2045	5	POSTN	13	38162024	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1731	38162024	77007854	213	116960											
LCP1	3936	broad.mit.edu	37	chr13	46732680	46732680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aataggagtgttgggtgccaAcgctagactgctctgaagta	13	7	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:46732680A>C	uc001vaz.3	-	4	461	c.335T>G	c.(334-336)GTT>GGT	p.V112G	LCP1_uc001vba.3_Missense_Mutation_p.V112G	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	112	Actin-binding 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		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)		TTGGGTGCCAACGCTAGACTG	0.443			T	BCL6	NHL 								C	46732680	A	C	46732680	3	2	231	1	0	0	0	0	1	0	0	0	8691	43	2	5	1600	5	LCP1	13	46732680	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	8570656	46732680	68437198	214	116961											
C13orf18	80183	broad.mit.edu	37	chr13	46917551	46917551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggccacactttccagaAgttttctcctcgctgtgatc	8	13	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:46917551A>C	uc010acl.2	-	15	2563	c.1958T>G	c.(1957-1959)CTT>CGT	p.L653R	C13orf18_uc010tfy.1_Missense_Mutation_p.L176R|C13orf18_uc001vbf.3_Missense_Mutation_p.L586R|C13orf18_uc001vbg.3_Missense_Mutation_p.L381R|C13orf18_uc010tfz.1_Missense_Mutation_p.L496R|C13orf18_uc010acm.2_Missense_Mutation_p.L518R|C13orf18_uc010acn.2_Missense_Mutation_p.L438R|C13orf18_uc001vbe.3_Missense_Mutation_p.F602V|C13orf18_uc001vbh.3_Missense_Mutation_p.L653R|C13orf18_uc001vbi.3_Missense_Mutation_p.L496R	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	653											0		Lung NSC(96;2.31e-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;2.19e-05)		ACTTTCCAGAAGTTTTCTCCT	0.502													C	46917551	A	C	46917551	3	2	231	1	0	0	0	0	1	0	0	0	1720	72	3	5	34	5	C13orf18	13	46917551	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	184871	46917551	68252327	215	116962											
HTR2A	3356	broad.mit.edu	37	chr13	47409690	47409690	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagccgatcaggacaaagTtatcatcggcgagtaagcaa	11	8	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:47409690T>G	uc001vbq.2	-	3	832	c.698A>C	c.(697-699)AAC>ACC	p.N233T	HTR2A_uc001vbr.2_Missense_Mutation_p.N133T|HTR2A_uc010acr.2_Missense_Mutation_p.N233T	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	233	Extracellular (By similarity).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		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)	CAGGACAAAGTTATCATCGGC	0.433													G	47409690	T	G	47409690	3	3	231	1	0	0	0	0	1	0	0	0	7441	1725	60	5	721	5	HTR2A	13	47409690	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	492139	47409690	67760188	216	116963											
UTP14C	9724	broad.mit.edu	37	chr13	52604528	52604528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggagcttcccagacctGtgttagaaggacagcagtca	11	9	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:52604528G>A	uc001vgb.2	+	2	2123	c.1588G>A	c.(1588-1590)GTG>ATG	p.V530M	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	530					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		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)		TCCCAGACCTGTGTTAGAAGG	0.463													A	52604528	G	A	52604528	3	1	231	1	0	0	0	0	1	0	0	0	17093	1377	48	4	1590	4	UTP14C	13	52604528	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	5194838	52604528	62565350	217	116964											
EDNRB	1910	broad.mit.edu	37	chr13	78477428	78477428	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccacccaaatcaaaacaaTttctactgctgtccattttg	4	12	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:78477428T>G	uc001vko.2	-	3	922	c.664A>C	c.(664-666)ATT>CTT	p.I222L	EDNRB_uc001vkq.1_Missense_Mutation_p.I222L|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.I222L|EDNRB_uc001vkp.1_Missense_Mutation_p.I305L	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	222	Helical; Name=4; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATCAAAACAATTTCTACTGCT	0.383													G	78477428	T	G	78477428	3	3	231	1	0	0	0	0	1	0	0	0	4920	1493	52	5	805	5	EDNRB	13	78477428	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	25872900	78477428	36692450	218	116965											
EDNRB	1910	broad.mit.edu	37	chr13	78492671	78492671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggcaagaaccagcgcaAccagggcgcgtccgcacaga	13	15	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:78492671A>C	uc001vko.2	-	1	296	c.38T>G	c.(37-39)GTT>GGT	p.V13G	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.V13G|EDNRB_uc010aez.1_Missense_Mutation_p.V13G|EDNRB_uc001vkp.1_Missense_Mutation_p.V96G|EDNRB_uc010afa.1_Missense_Mutation_p.V13G	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	13					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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AACCAGCGCAACCAGGGCGCG	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	78492671	A	C	78492671	3	2	231	1	0	0	0	0	1	0	0	0	4920	43	2	5	1439	5	EDNRB	13	78492671	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	15243	78492671	36677207	219	116966											
SLITRK5	26050	broad.mit.edu	37	chr13	88328833	88328833	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtaaactgccaggagcgaaAgatcgagagcatcgctgaac	12	10	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:88328833A>C	uc001vln.2	+	2	1409	c.1190A>C	c.(1189-1191)AAG>ACG	p.K397T	SLITRK5_uc010tic.1_Missense_Mutation_p.K156T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	397	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGGAGCGAAAGATCGAGAGC	0.537													C	88328833	A	C	88328833	3	2	231	1	0	0	0	0	1	0	0	0	14746	72	3	5	1192	5	SLITRK5	13	88328833	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	9836162	88328833	26841045	220	116967											
GPC6	10082	broad.mit.edu	37	chr13	94197663	94197663	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttttgtgtccaggcataAgaaatttgacggtaggtgaa	11	6	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:94197663A>T	uc001vlt.2	+	2	940	c.308A>T	c.(307-309)AAG>ATG	p.K103M	GPC6_uc010tig.1_Missense_Mutation_p.K103M|GPC6_uc001vlu.1_Missense_Mutation_p.K33M	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	103						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	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)				TCCAGGCATAAGAAATTTGAC	0.353													T	94197663	A	T	94197663	3	4	231	1	0	0	0	0	1	0	0	0	6602	72	3	5	314	5	GPC6	13	94197663	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	5868830	94197663	20972215	221	116968											
GPC6	10082	broad.mit.edu	37	chr13	94680041	94680041	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgtactgcccatactGtcgggggcttcccactgtga	12	12	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr13:94680041G>C	uc001vlt.2	+	4	1402	c.770G>C	c.(769-771)TGT>TCT	p.C257S	GPC6_uc010tig.1_Missense_Mutation_p.C257S	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	257						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	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)				TGCCCATACTGTCGGGGGCTT	0.498													C	94680041	G	C	94680041	3	2	231	1	0	0	0	0	1	0	0	0	6602	1377	48	5	784	5	GPC6	13	94680041	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	482378	94680041	20489837	222	116969											
OR4K17	390436	broad.mit.edu	37	chr14	20586335	20586335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatcctcataaccattaAgaaccactctcctactgggc	5	14	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr14:20586335A>G	uc001vwo.1	+	1	770	c.770A>G	c.(769-771)AAG>AGG	p.K257R		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATAACCATTAAGAACCACTCT	0.418													G	20586335	A	G	20586335	3	3	231	1	0	0	0	0	1	0	0	0	11071	72	3	3	772	3	OR4K17	14	20586335	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		20586335	86763205	223	116970											
NOVA1	4857	broad.mit.edu	37	chr14	26917982	26917982	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtatcttctggatgataAgttcaacagcttttcggttt	8	7	3	1	rs144207941		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr14:26917982A>C	uc001wpy.2	-	5	1025	c.707T>G	c.(706-708)CTT>CGT	p.L236R	NOVA1_uc001wpz.2_Missense_Mutation_p.L212R|NOVA1_uc001wqa.2_Missense_Mutation_p.L114R	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	239	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		CTGGATGATAAGTTCAACAGC	0.468													C	26917982	A	C	26917982	3	2	231	1	0	0	0	0	1	0	0	0	10554	72	3	5	820	5	NOVA1	14	26917982	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	6331647	26917982	80431558	224	116971											
AKAP6	9472	broad.mit.edu	37	chr14	33293936	33293936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaacctgtgaagaaaatcTtctaaaccttcatgaaaaac	4	8	3	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr14:33293936T>G	uc001wrq.2	+	13	7087	c.6917T>G	c.(6916-6918)CTT>CGT	p.L2306R		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2306					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		GAAGAAAATCTTCTAAACCTT	0.428													G	33293936	T	G	33293936	3	3	231	1	0	0	0	0	1	0	0	0	455	1609	56	5	6963	5	AKAP6	14	33293936	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	6375954	33293936	74055604	225	116972											
TRIM9	114088	broad.mit.edu	37	chr14	51467557	51467557	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgggactggagaggaAgctaaacagaaattagtgta	14	4	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr14:51467557A>C	uc001wyx.3	-	6	2073	c.1308T>G	c.(1306-1308)GCT>GCG	p.A436A	TRIM9_uc001wyy.2_Intron|TRIM9_uc001wyz.3_Silent_p.A436A	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	436					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CTGGAGAGGAAGCTAAACAGA	0.478													C	51467557	A	C	51467557	2	2	231	1	0	0	0	0	0	0	0	1	16546	86	3	5		5	TRIM9	14	51467557	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	18173621	51467557	55881983	226	116973											
PELI2	57161	broad.mit.edu	37	chr14	56755305	56755305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgaaccttacacagcaCggatattcgccgccggattt	10	11	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr14:56755305C>T	uc001xch.2	+	4	746	c.460C>T	c.(460-462)CGG>TGG	p.R154W		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	154					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			ovary(1)	1						TTACACAGCACGGATATTCGC	0.463													T	56755305	C	T	56755305	3	4	231	1	0	0	0	0	1	0	0	0	11722	527	19	1	474	1	PELI2	14	56755305	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	5287748	56755305	50594235	227	116974											
ZFYVE26	23503	broad.mit.edu	37	chr14	68241785	68241785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatctagggagggtctcGggatctgcagcctggtggac	18	8	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr14:68241785G>A	uc001xka.2	-	27	5407	c.5268C>T	c.(5266-5268)CCC>CCT	p.P1756P	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.P1756P	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1756					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGAGGGTCTCGGGATCTGCAG	0.438													A	68241785	G	A	68241785	2	1	231	1	0	0	0	0	0	0	0	1	17665	1103	39	1		1	ZFYVE26	14	68241785	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	11486480	68241785	39107755	228	116975											
RGS6	9628	broad.mit.edu	37	chr14	72944985	72944985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttcccagataacatttTtgaacgcacagatcgacaga	6	9	0	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr14:72944985T>G	uc001xna.3	+	12	1325	c.802T>G	c.(802-804)TTG>GTG	p.L268V	RGS6_uc010ttn.1_Missense_Mutation_p.L268V|RGS6_uc001xmx.3_Missense_Mutation_p.L268V|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.L268V|RGS6_uc010ttp.1_Missense_Mutation_p.L199V|RGS6_uc001xmz.1_Missense_Mutation_p.L129V	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	268	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|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		GATAACATTTTTGAACGCACA	0.353													G	72944985	T	G	72944985	3	3	231	1	0	0	0	0	1	0	0	0	13309	1838	64	5	844	5	RGS6	14	72944985	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4703200	72944985	34404555	229	116976											
ATP10A	57194	broad.mit.edu	37	chr15	25958965	25958965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtgcaggagctcgaAggtgagcctgcccaggtggg	18	9	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr15:25958965A>C	uc010ayu.2	-	10	2306	c.2200T>G	c.(2200-2202)TTC>GTC	p.F734V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	734	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		AGGAGCTCGAAGGTGAGCCTG	0.612													C	25958965	A	C	25958965	3	2	231	1	0	0	0	0	1	0	0	0	1116	72	3	5	2347	5	ATP10A	15	25958965	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		25958965	76572427	230	116977											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116181	42116181	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaaggccctgaaaacTtgcagcccccaccccctgag	7	18	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr15:42116181T>C	uc001zok.3	+	30	4439	c.4153T>C	c.(4153-4155)TTG>CTG	p.L1385L	MAPKBP1_uc001zoj.3_Silent_p.L1379L|MAPKBP1_uc010bcj.2_Silent_p.L886L|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Silent_p.L1218L|MAPKBP1_uc010bck.2_Silent_p.L596L|MAPKBP1_uc010bcl.2_Silent_p.L886L	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	1385										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		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)		CCCTGAAAACTTGCAGCCCCC	0.637													C	42116181	T	C	42116181	2	2	231	1	0	0	0	0	0	0	0	1	9292	1606	56	3		3	MAPKBP1	15	42116181	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	16157216	42116181	60415211	231	116978											
NEDD4	4734	broad.mit.edu	37	chr15	56152694	56152694	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgagttggaacatccaAgttacttgacggtggaggtg	14	5	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr15:56152694A>C	uc002adj.2	-	7	2428	c.2128T>G	c.(2128-2130)TTG>GTG	p.L710V	NEDD4_uc002adl.2_Missense_Mutation_p.L291V|NEDD4_uc002adi.2_Missense_Mutation_p.L638V|NEDD4_uc010ugj.1_Missense_Mutation_p.L694V|NEDD4_uc010bfm.2_Missense_Mutation_p.L693V|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	710	Mediates interaction with TNIK (By similarity).				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			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGAACATCCAAGTTACTTGAC	0.443													C	56152694	A	C	56152694	3	2	231	1	0	0	0	0	1	0	0	0	10310	69	3	5	1907	5	NEDD4	15	56152694	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	14036513	56152694	46378698	232	116979											
TM6SF1	53346	broad.mit.edu	37	chr15	83790679	83790679	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttacagggaaacTtatagaaccattggcctata	9	6	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr15:83790679T>G	uc002bjp.2	+	5	514	c.405T>G	c.(403-405)ACT>ACG	p.T135T	TM6SF1_uc010bmq.2_Silent_p.T135T|TM6SF1_uc002bjq.2_Silent_p.T135T|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_5'UTR	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	135						integral to membrane				ovary(1)	1						ACAGGGAAACTTATAGAACCA	0.299													G	83790679	T	G	83790679	2	3	231	1	0	0	0	0	0	0	0	1	15969	1596	56	5		5	TM6SF1	15	83790679	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	27637985	83790679	18740713	233	116980											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84582078	84582078	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggacagtgagacgacTtacgactgggagtacgctgg	15	9	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr15:84582078T>G	uc002bjz.3	+	16	2159	c.1935T>G	c.(1933-1935)ACT>ACG	p.T645T	ADAMTSL3_uc010bmt.1_Silent_p.T645T|ADAMTSL3_uc010bmu.1_Silent_p.T645T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	645						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGAGACGACTTACGACTGGG	0.567													G	84582078	T	G	84582078	2	3	231	1	0	0	0	0	0	0	0	1	276	1596	56	5		5	ADAMTSL3	15	84582078	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	791399	84582078	17949314	234	116981											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651194	84651194	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaagtgccccgtgcgacgAttccagaaatctctgatcca	8	12	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr15:84651194A>C	uc002bjz.3	+	21	3038	c.2814A>C	c.(2812-2814)CGA>CGC	p.R938R	ADAMTSL3_uc010bmt.1_Silent_p.R938R|ADAMTSL3_uc010bmu.1_Silent_p.R938R	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	938	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCGTGCGACGATTCCAGAAAT	0.498													C	84651194	A	C	84651194	2	2	231	1	0	0	0	0	0	0	0	1	276	320	12	5		5	ADAMTSL3	15	84651194	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	69116	84651194	17880198	235	116982											
AGBL1	123624	broad.mit.edu	37	chr15	87089239	87089239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctattgtaggttttcTgtgacttccatggccactcc	10	10	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr15:87089239T>C	uc002blz.1	+	19	2634	c.2554T>C	c.(2554-2556)TGT>CGT	p.C852R		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	852					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GTAGGTTTTCTGTGACTTCCA	0.433													C	87089239	T	C	87089239	3	2	231	1	0	0	0	0	1	0	0	0	375	1580	55	3	2624	3	AGBL1	15	87089239	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2438045	87089239	15442153	236	116983											
CLDN9	9080	broad.mit.edu	37	chr16	3063438	3063438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaccctggtgtcctgCgccctgcccctgtggaaggt	15	14	0	0	rs137924866		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr16:3063438C>T	uc010uwo.1	+	1	982	c.75C>T	c.(73-75)TGC>TGT	p.C25C		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	25	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TGGTGTCCTGCGCCCTGCCCC	0.652													T	3063438	C	T	3063438	2	4	231	1	0	0	0	0	0	0	0	1	3492	776	27	1		1	CLDN9	16	3063438	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08		3063438	87291315	237	116984											
CREBBP	1387	broad.mit.edu	37	chr16	3779644	3779644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccttggtgtgctgcaCcacccgcttcatcttctggc	10	16	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr16:3779644C>T	uc002cvv.2	-	31	5608	c.5404G>A	c.(5404-5406)GTG>ATG	p.V1802M	CREBBP_uc002cvw.2_Missense_Mutation_p.V1764M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1802	TAZ-type 2.|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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGTGCTGCACCACCCGCTTC	0.647			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3779644	C	T	3779644	3	4	231	1	0	0	0	0	1	0	0	0	3861	507	18	4	1928	4	CREBBP	16	3779644	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	716206	3779644	86575109	238	116985											
DNAH3	55567	broad.mit.edu	37	chr16	20998712	20998712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctccttgtcaatcagaCgatcatagaagacccgataa	7	11	3	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr16:20998712C>T	uc010vbe.1	-	47	6941	c.6941G>A	c.(6940-6942)CGT>CAT	p.R2314H	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2314					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GTCAATCAGACGATCATAGAA	0.413													T	20998712	C	T	20998712	3	4	231	1	0	0	0	0	1	0	0	0	4603	536	19	1	5472	1	DNAH3	16	20998712	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	17219068	20998712	69356041	239	116986											
NUP93	9688	broad.mit.edu	37	chr16	56832411	56832411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgaagaatgagaaggaCaatgccctgctgtctgccat	10	10	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr16:56832411C>T	uc002eka.2	+	4	442	c.321C>T	c.(319-321)GAC>GAT	p.D107D	NUP93_uc002ekb.2_5'UTR|NUP93_uc010vhi.1_5'UTR	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	107					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						ATGAGAAGGACAATGCCCTGC	0.358													T	56832411	C	T	56832411	2	4	231	1	0	0	0	0	0	0	0	1	10772	477	17	4		4	NUP93	16	56832411	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	35833699	56832411	33522342	240	116987											
CCDC135	84229	broad.mit.edu	37	chr16	57760055	57760055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcgcgtgtttctggtcGcggaggagcgcatccagctg	16	11	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr16:57760055G>A	uc002emi.2	+	13	1923	c.1834G>A	c.(1834-1836)GCG>ACG	p.A612T	CCDC135_uc002emj.2_Missense_Mutation_p.A612T|CCDC135_uc002emk.2_Missense_Mutation_p.A547T	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	612						cytoplasm				central_nervous_system(1)	1						GTTTCTGGTCGCGGAGGAGCG	0.632													A	57760055	G	A	57760055	3	1	231	1	0	0	0	0	1	0	0	0	2769	1087	38	1	1880	1	CCDC135	16	57760055	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	927644	57760055	32594698	241	116988											
HYDIN	54768	broad.mit.edu	37	chr16	71015346	71015346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaagattccctctccGctcagagtgatattttctgg	11	9	3	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr16:71015346G>A	uc002ezr.2	-	29	4583	c.4455C>T	c.(4453-4455)AGC>AGT	p.S1485S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1486										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTCCCTCTCCGCTCAGAGTGA	0.478													A	71015346	G	A	71015346	2	1	231	1	0	0	0	0	0	0	0	1	7467	1078	38	1		1	HYDIN	16	71015346	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	13255291	71015346	19339407	242	116989											
OR3A1	4994	broad.mit.edu	37	chr17	3195720	3195720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtttgggctccaccaAgacagctgccaggatgctga	14	10	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:3195720A>C	uc002fvh.1	-	1	157	c.157T>G	c.(157-159)TTG>GTG	p.L53V		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						GGCTCCACCAAGACAGCTGCC	0.567													C	3195720	A	C	3195720	3	2	231	1	0	0	0	0	1	0	0	0	11037	69	3	5	794	5	OR3A1	17	3195720	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		3195720	77999490	243	116990											
NLRP1	22861	broad.mit.edu	37	chr17	5463142	5463142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttgaccaggggatcttGgcttctggggtgaggtcttt	14	8	4	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:5463142G>T	uc002gci.2	-	4	1429	c.874C>A	c.(874-876)CAA>AAA	p.Q292K	NLRP1_uc002gcg.1_Missense_Mutation_p.Q292K|NLRP1_uc002gck.2_Missense_Mutation_p.Q292K|NLRP1_uc002gcj.2_Missense_Mutation_p.Q292K|NLRP1_uc002gcl.2_Missense_Mutation_p.Q292K|NLRP1_uc002gch.3_Missense_Mutation_p.Q292K|NLRP1_uc010clh.2_Missense_Mutation_p.Q292K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	292					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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AGGGGATCTTGGCTTCTGGGG	0.473													T	5463142	G	T	5463142	3	4	231	1	0	0	0	0	1	0	0	0	10471	1357	47	5	3678	5	NLRP1	17	5463142	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	2267422	5463142	75732068	244	116991											
C17orf59	54785	broad.mit.edu	37	chr17	8093038	8093038	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcgtcgttgtcttcctcctCctgctgctcaacatccatcc	5	18	2	0	rs144247363	byFrequency	TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:8093038C>G	uc010vut.1	-	1	527	c.421G>C	c.(421-423)GAG>CAG	p.E141Q		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	141											0						TCTTCCTCCTCCTGCTGCTCA	0.716													G	8093038	C	G	8093038	3	3	231	1	0	0	0	0	1	0	0	0	1867	864	30	5	656	5	C17orf59	17	8093038	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	2629896	8093038	73102172	245	116992											
GLP2R	9340	broad.mit.edu	37	chr17	9757876	9757876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggatactccttctctcTtatctccctcttcctggctc	6	16	4	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:9757876T>G	uc002gmd.1	+	5	569	c.569T>G	c.(568-570)CTT>CGT	p.L190R		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	190	Helical; Name=1; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	TCCTTCTCTCTTATCTCCCTC	0.463													G	9757876	T	G	9757876	3	3	231	1	0	0	0	0	1	0	0	0	6453	1609	56	5	587	5	GLP2R	17	9757876	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1664838	9757876	71437334	246	116993											
DNAH9	1770	broad.mit.edu	37	chr17	11520913	11520913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgactgtgctgctccagGagatttgcaaccttctcatc	10	12	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:11520913G>A	uc002gne.2	+	5	1158	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	364	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		GCTGCTCCAGGAGATTTGCAA	0.617													A	11520913	G	A	11520913	3	1	231	1	0	0	0	0	1	0	0	0	4608	1175	41	4	1108	4	DNAH9	17	11520913	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	1763037	11520913	69674297	247	116994											
DNAH9	1770	broad.mit.edu	37	chr17	11671828	11671828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgagttcaaaacagtcaAgtttccttcccaaggaacca	7	11	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:11671828A>C	uc002gne.2	+	37	7297	c.7229A>C	c.(7228-7230)AAG>ACG	p.K2410T	DNAH9_uc010coo.2_Missense_Mutation_p.K1704T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2410					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		AAAACAGTCAAGTTTCCTTCC	0.498													C	11671828	A	C	11671828	3	2	231	1	0	0	0	0	1	0	0	0	4608	72	3	5	7375	5	DNAH9	17	11671828	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	150915	11671828	69523382	248	116995											
MYOCD	93649	broad.mit.edu	37	chr17	12655799	12655799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaaaacggctctcatGgaccggcttcgacccttcca	9	16	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:12655799G>T	uc002gnn.2	+	10	1493	c.1194G>T	c.(1192-1194)ATG>ATT	p.M398I	MYOCD_uc002gno.2_Missense_Mutation_p.M398I|MYOCD_uc002gnp.1_Missense_Mutation_p.M302I|MYOCD_uc002gnq.2_Missense_Mutation_p.M117I	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	398	SAP.				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			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGGCTCTCATGGACCGGCTTC	0.517													T	12655799	G	T	12655799	3	4	231	1	0	0	0	0	1	0	0	0	10087	1348	47	5	1232	5	MYOCD	17	12655799	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	983971	12655799	68539411	249	116996											
C17orf42	79736	broad.mit.edu	37	chr17	29231427	29231427	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggctcctttgcattttcaTcacaaaaagtaacattggga	8	9	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:29231427T>G	uc002hfu.2	-	2	222	c.152A>C	c.(151-153)GAT>GCT	p.D51A	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.D51A|C17orf42_uc010wbs.1_Missense_Mutation_p.D51A	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	51					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TGCATTTTCATCACAAAAAGT	0.423													G	29231427	T	G	29231427	3	3	231	1	0	0	0	0	1	0	0	0	1856	1435	50	5	942	5	C17orf42	17	29231427	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	16575628	29231427	51963783	250	116997											
KIF2B	84643	broad.mit.edu	37	chr17	51902173	51902173	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtacagagtgaggagcagaaAgagattgaagaggttgaaac	15	3	0	7			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:51902173A>T	uc002iua.2	+	1	1935	c.1779A>T	c.(1777-1779)AAA>AAT	p.K593N	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	593					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			ovary(5)|skin(3)	8						AGGAGCAGAAAGAGATTGAAG	0.418													T	51902173	A	T	51902173	3	4	231	1	0	0	0	0	1	0	0	0	8298	69	3	5	1781	5	KIF2B	17	51902173	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	22670746	51902173	29293037	251	116998											
GH2	2689	broad.mit.edu	37	chr17	61957795	61957795	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagttcttgagcagtgcGtcatcgttgtgcgattttgt	12	8	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr17:61957795G>A	uc002jco.1	-	5	602	c.540C>T	c.(538-540)GAC>GAT	p.D180D	GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_3'UTR|GH2_uc002jcm.1_Missense_Mutation_p.T179M|GH2_uc002jcn.1_Silent_p.D165D	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	180						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						TGAGCAGTGCGTCATCGTTGT	0.547													A	61957795	G	A	61957795	2	1	231	1	0	0	0	0	0	0	0	1	6368	1145	40	1		1	GH2	17	61957795	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	10055622	61957795	19237415	252	116999											
CDH2	1000	broad.mit.edu	37	chr18	25565074	25565074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttggagtcacactggcaaAccttcacacgcaggatggaa	11	11	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr18:25565074A>C	uc002kwg.2	-	13	2558	c.2099T>G	c.(2098-2100)GTT>GGT	p.V700G	CDH2_uc010xbn.1_Missense_Mutation_p.V669G	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	700	Extracellular (Potential).|Cadherin 5.				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			ovary(3)|lung(1)	4						ACACTGGCAAACCTTCACACG	0.483													C	25565074	A	C	25565074	3	2	231	1	0	0	0	0	1	0	0	0	3105	43	2	5	637	5	CDH2	18	25565074	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		25565074	52512174	253	117000											
SETBP1	26040	broad.mit.edu	37	chr18	42532135	42532135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacaagaggaaacggaaaAgcctgcaaaaccgcgatgac	11	10	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr18:42532135A>C	uc010dni.2	+	4	3126	c.2830A>C	c.(2830-2832)AGC>CGC	p.S944R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	944						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAACGGAAAAGCCTGCAAAA	0.512									Schinzel-Giedion_syndrome				C	42532135	A	C	42532135	3	2	231	1	0	0	0	0	1	0	0	0	14129	72	3	5	3033	5	SETBP1	18	42532135	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	16967061	42532135	35545113	254	117001											
MYO5B	4645	broad.mit.edu	37	chr18	47488655	47488655	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacattcttcatccaacAggtccaagatacccagcttg	5	14	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr18:47488655A>C	uc002leb.2	-	12	1814	c.1526T>G	c.(1525-1527)CTG>CGG	p.L509R	MYO5B_uc002lec.1_Missense_Mutation_p.L508R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	509	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		TTCATCCAACAGGTCCAAGAT	0.393													C	47488655	A	C	47488655	3	2	231	1	0	0	0	0	1	0	0	0	10079	188	7	5	4136	5	MYO5B	18	47488655	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	4956520	47488655	30588593	255	117002											
DCC	1630	broad.mit.edu	37	chr18	50961524	50961524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgaacaggtcgtcatggAgatggaggttattggccagt	14	6	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr18:50961524A>G	uc002lfe.1	+	22	3761	c.3174A>G	c.(3172-3174)GGA>GGG	p.G1058G	DCC_uc010dpf.1_Silent_p.G693G	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1058	Extracellular (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTCGTCATGGAGATGGAGGTT	0.303													G	50961524	A	G	50961524	2	3	231	1	0	0	0	0	0	0	0	1	4282	291	11	3		3	DCC	18	50961524	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3472869	50961524	27115724	256	117003											
SERPINB10	5273	broad.mit.edu	37	chr18	61597380	61597380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgggaacatcaattcTtagtgcaaaacaccacagaa	7	9	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr18:61597380T>G	uc010xev.1	+	6	682	c.592T>G	c.(592-594)TTA>GTA	p.L198V	SERPINB10_uc010xew.1_Missense_Mutation_p.L198V	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	198						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)|skin(1)	3		Esophageal squamous(42;0.131)				ACATCAATTCTTAGTGCAAAA	0.383													G	61597380	T	G	61597380	3	3	231	1	0	0	0	0	1	0	0	0	14097	1606	56	5	610	5	SERPINB10	18	61597380	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	10635856	61597380	16479868	257	117004											
MUC16	94025	broad.mit.edu	37	chr19	9060081	9060081	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggagttctactcataAgagcggtcatctgtgagtgt	11	9	4	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:9060081A>C	uc002mkp.2	-	3	27569	c.27365T>G	c.(27364-27366)CTT>CGT	p.L9122R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9124	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTACTCATAAGAGCGGTCAT	0.488													C	9060081	A	C	9060081	3	2	231	1	0	0	0	0	1	0	0	0	9973	72	3	5	16486	5	MUC16	19	9060081	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		9060081	50068902	258	117005											
MUC16	94025	broad.mit.edu	37	chr19	9061830	9061830	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggagttctactcataAgagtggtcatctctgagtgt	10	9	4	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:9061830A>C	uc002mkp.2	-	3	25820	c.25616T>G	c.(25615-25617)CTT>CGT	p.L8539R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8541	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTACTCATAAGAGTGGTCAT	0.522													C	9061830	A	C	9061830	3	2	231	1	0	0	0	0	1	0	0	0	9973	72	3	5	18235	5	MUC16	19	9061830	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1749	9061830	50067153	259	117006											
MUC16	94025	broad.mit.edu	37	chr19	9076366	9076366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtactactgggagtccaacTtgtacttaaaatgtcaggaa	9	7	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:9076366T>G	uc002mkp.2	-	3	11284	c.11080A>C	c.(11080-11082)AGT>CGT	p.S3694R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3695	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGTCCAACTTGTACTTAAA	0.443													G	9076366	T	G	9076366	3	3	231	1	0	0	0	0	1	0	0	0	9973	1609	56	5	32771	5	MUC16	19	9076366	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	14536	9076366	50052617	260	117007											
MUC16	94025	broad.mit.edu	37	chr19	9086887	9086887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggctatgcccagggtgActccactactactgctccct	11	14	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:9086887A>G	uc002mkp.2	-	1	5132	c.4928T>C	c.(4927-4929)GTC>GCC	p.V1643A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1643	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCCCAGGGTGACTCCACTACT	0.507													G	9086887	A	G	9086887	3	3	231	1	0	0	0	0	1	0	0	0	9973	275	10	3	38931	3	MUC16	19	9086887	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	10521	9086887	50042096	261	117008											
ZNF426	79088	broad.mit.edu	37	chr19	9639571	9639571	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctctccagtgtgagttcTtatatgttgaataaggcgtg	10	7	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:9639571T>G	uc002mlq.2	-	8	1414	c.1150A>C	c.(1150-1152)AGA>CGA	p.R384R	ZNF426_uc010dws.2_Silent_p.R346R	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	384	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTGTGAGTTCTTATATGTTGA	0.418													G	9639571	T	G	9639571	2	3	231	1	0	0	0	0	0	0	0	1	17897	1617	56	5		5	ZNF426	19	9639571	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	552684	9639571	49489412	262	117009											
CYP4F12	66002	broad.mit.edu	37	chr19	15795950	15795950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccagaataccaggagcGctgccgacaggaggtgcaag	14	12	0	1	rs150856722	by1000genomes	TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:15795950G>A	uc002nbl.2	+	9	1119	c.1058G>A	c.(1057-1059)CGC>CAC	p.R353H		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					TACCAGGAGCGCTGCCGACAG	0.572													A	15795950	G	A	15795950	3	1	231	1	0	0	0	0	1	0	0	0	4187	1087	38	1	1088	1	CYP4F12	19	15795950	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	6156379	15795950	43333033	263	117010											
SIN3B	23309	broad.mit.edu	37	chr19	16942380	16942380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcattgttggattcaaCgcttttcttcccctcggata	7	12	3	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:16942380C>T	uc002ney.1	+	3	317	c.303C>T	c.(301-303)AAC>AAT	p.N101N	SIN3B_uc002new.2_Silent_p.N101N|SIN3B_uc002nex.2_Silent_p.N33N|SIN3B_uc002nez.1_Silent_p.N101N	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	101	Interaction with REST (By similarity).|PAH 1.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						TTGGATTCAACGCTTTTCTTC	0.493													T	16942380	C	T	16942380	2	4	231	1	0	0	0	0	0	0	0	1	14326	535	19	1		1	SIN3B	19	16942380	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	1146430	16942380	42186603	264	117011											
NCAN	1463	broad.mit.edu	37	chr19	19339180	19339180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagcttcagtgcctccGcatcagagcagtcccctagg	11	14	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:19339180G>A	uc002nlz.2	+	8	2850	c.2751G>A	c.(2749-2751)CCG>CCA	p.P917P	NCAN_uc010ecc.1_Silent_p.P481P	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	917					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CAGTGCCTCCGCATCAGAGCA	0.617													A	19339180	G	A	19339180	2	1	231	1	0	0	0	0	0	0	0	1	10204	1074	38	1		1	NCAN	19	19339180	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	2396800	19339180	39789803	265	117012											
ZNF626	199777	broad.mit.edu	37	chr19	20808392	20808392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatcttctcagtaccacTttttggaaagaatctttcat	4	9	5	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:20808392T>G	uc002npb.1	-	4	441	c.291A>C	c.(289-291)AAA>AAC	p.K97N	ZNF626_uc002npc.1_Missense_Mutation_p.K21N	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCAGTACCACTTTTTGGAAAG	0.343													G	20808392	T	G	20808392	3	3	231	1	0	0	0	0	1	0	0	0	18047	1606	56	5	1299	5	ZNF626	19	20808392	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1469212	20808392	38320591	266	117013											
ZNF43	7594	broad.mit.edu	37	chr19	21992583	21992583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatgctgctctggccaaaAgtcttgggtaaaatgagaac	10	7	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:21992583A>C	uc002nqj.2	-	4	386	c.256T>G	c.(256-258)TTT>GTT	p.F86V	ZNF43_uc010ecv.2_Missense_Mutation_p.F80V|ZNF43_uc002nql.2_Missense_Mutation_p.F80V|ZNF43_uc002nqm.2_Missense_Mutation_p.F80V|ZNF43_uc002nqk.2_Missense_Mutation_p.F16V	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTGGCCAAAAGTCTTGGGTA	0.279													C	21992583	A	C	21992583	3	2	231	1	0	0	0	0	1	0	0	0	17900	72	3	5	2177	5	ZNF43	19	21992583	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1184191	21992583	37136400	267	117014											
ZNF492	57615	broad.mit.edu	37	chr19	22846703	22846703	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaatgtggatgtgaaAatttacagttaagaaaatac	7	2	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:22846703A>C	uc002nqw.3	+	4	476	c.232A>C	c.(232-234)AAT>CAT	p.N78H		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGGATGTGAAAATTTACAGTT	0.348													C	22846703	A	C	22846703	3	2	231	1	0	0	0	0	1	0	0	0	17940	14	1	5	242	5	ZNF492	19	22846703	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	854120	22846703	36282280	268	117015											
ZNF260	339324	broad.mit.edu	37	chr19	37005915	37005915	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttctttcctgtgtgacTtctaaggtgtagagtaagag	11	7	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:37005915T>G	uc002oee.1	-	4	1070	c.226A>C	c.(226-228)AGT>CGT	p.S76R	ZNF260_uc002oed.1_Missense_Mutation_p.S73R|ZNF260_uc010eey.1_Missense_Mutation_p.S73R|ZNF260_uc002oef.1_Missense_Mutation_p.S73R	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	76	C2H2-type 2.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					CCTGTGTGACTTCTAAGGTGT	0.393													G	37005915	T	G	37005915	3	3	231	1	0	0	0	0	1	0	0	0	17799	1609	56	5	1016	5	ZNF260	19	37005915	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	14159212	37005915	22123068	269	117016											
ZNF568	374900	broad.mit.edu	37	chr19	37440630	37440630	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacataatttagacttacTtagatatgagaaaggctgtg	10	4	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:37440630T>G	uc002ofc.2	+	7	1090	c.575T>G	c.(574-576)CTT>CGT	p.L192R	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.L116R|ZNF568_uc010efe.2_Missense_Mutation_p.L116R|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGACTTACTTAGATATGAG	0.363													G	37440630	T	G	37440630	3	3	231	1	0	0	0	0	1	0	0	0	17996	1609	56	5	593	5	ZNF568	19	37440630	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	434715	37440630	21688353	270	117017											
ZNF568	374900	broad.mit.edu	37	chr19	37441098	37441098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccttcagccagaagcaaaAtcttattgagcacgagaaaa	7	9	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:37441098A>C	uc002ofc.2	+	7	1558	c.1043A>C	c.(1042-1044)AAT>ACT	p.N348T	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.N272T|ZNF568_uc010efe.2_Missense_Mutation_p.N272T|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	348	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAAGCAAAATCTTATTGAG	0.388													C	37441098	A	C	37441098	3	2	231	1	0	0	0	0	1	0	0	0	17996	101	4	5	1061	5	ZNF568	19	37441098	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	468	37441098	21687885	271	117018											
ZNF607	84775	broad.mit.edu	37	chr19	38190535	38190535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattcataaggtttctcaCgagcattaattttctgatgc	6	9	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:38190535C>T	uc002ohc.1	-	5	1093	c.497G>A	c.(496-498)CGT>CAT	p.R166H	ZNF607_uc002ohb.1_Missense_Mutation_p.R165H	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGGTTTCTCACGAGCATTAAT	0.383													T	38190535	C	T	38190535	3	4	231	1	0	0	0	0	1	0	0	0	18030	536	19	1	1597	1	ZNF607	19	38190535	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	749437	38190535	20938448	272	117019											
CEACAM8	1088	broad.mit.edu	37	chr19	43097731	43097731	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagttacttcttcactcataAgatttagctttatgacttgt	5	8	3	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:43097731A>T	uc002oud.2	-	2	488	c.386T>A	c.(385-387)CTT>CAT	p.L129H	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	129	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				TTCACTCATAAGATTTAGCTT	0.478													T	43097731	A	T	43097731	3	4	231	1	0	0	0	0	1	0	0	0	3198	72	3	5	679	5	CEACAM8	19	43097731	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	4907196	43097731	16031252	273	117020											
PSG2	5670	broad.mit.edu	37	chr19	43579745	43579745	+	Frame_Shift_Del	DEL	T	T	-													tttccatggcctccctggggTttaagttgctgctggagatg							TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:43579744_43579744GT>G	uc002ovr.3	-	2	643	c.471_471AC>C	c.(469-471)aacfs	p.N157fs	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	157	Ig-like C2-type 1.				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)				CCTCCCTGGGGTTTAAGTTGC	0.522													-	43579745	T	-	43579745	7	5	231	1	0	1	0	1	0	0	0	0	12655	1725	60	0	549	0	PSG2	19	43579745	Frame_Shift_Del	DEL	T	TCGA-D7-A4Z0-01A-22D-A25D-08	482014	43579745	15549238	274	117021											
ZNF226	7769	broad.mit.edu	37	chr19	44679669	44679669	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagagaaaaatcaaagtaAgttaattactgttcaagaca	8	4	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:44679669A>T	uc002oyp.2	+	6	398	c.254A>T	c.(253-255)AAG>ATG	p.K85M	ZNF226_uc002oyq.2_Translation_Start_Site|ZNF226_uc002oyr.2_Translation_Start_Site|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.K85M|ZNF226_uc002oyt.2_Missense_Mutation_p.K85M	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AATCAAAGTAAGTTAATTACT	0.353													T	44679669	A	T	44679669	3	4	231	1	0	0	0	0	1	0	0	0	17777	72	3	5	322	5	ZNF226	19	44679669	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1099924	44679669	14449314	275	117022											
SLC6A16	28968	broad.mit.edu	37	chr19	49814455	49814455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccgggctgctgaaacTtgggcctctgaggtccaaga	13	12	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:49814455T>C	uc002pmz.2	-	2	384	c.150A>G	c.(148-150)CAA>CAG	p.Q50Q	SLC6A16_uc002pna.2_Silent_p.Q50Q|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	50	Cytoplasmic (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTGCTGAAACTTGGGCCTCTG	0.547													C	49814455	T	C	49814455	2	2	231	1	0	0	0	0	0	0	0	1	14679	1606	56	3		3	SLC6A16	19	49814455	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	5134786	49814455	9314528	276	117023											
SYT3	84258	broad.mit.edu	37	chr19	51135733	51135733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatacgagtccatgtccaAgtaggagggctcaggggtgt	16	7	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:51135733A>C	uc002pst.2	-	2	1118	c.484T>G	c.(484-486)TTG>GTG	p.L162V	SYT3_uc002psv.2_Missense_Mutation_p.L162V|SYT3_uc010ycd.1_Missense_Mutation_p.L162V	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	162	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCCATGTCCAAGTAGGAGGGC	0.657													C	51135733	A	C	51135733	3	2	231	1	0	0	0	0	1	0	0	0	15472	69	3	5	1316	5	SYT3	19	51135733	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1321278	51135733	7993250	277	117024											
TSEN34	79042	broad.mit.edu	37	chr19	54696123	54696123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccccacgccggccgccCtgcccacgagctgcgctaca	11	21	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:54696123C>T	uc002qdu.2	+	4	753	c.644C>T	c.(643-645)CCT>CTT	p.P215L	MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.P215L|TSEN34_uc002qdv.2_Missense_Mutation_p.P215L|TSEN34_uc002qdw.2_Missense_Mutation_p.P215L	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	tRNA-intron endonuclease 34	215					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCGGCCGCCCTGCCCACGAG	0.642													T	54696123	C	T	54696123	3	4	231	1	0	0	0	0	1	0	0	0	16610	681	24	4	654	4	TSEN34	19	54696123	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	3560390	54696123	4432860	278	117025											
ZNF667	63934	broad.mit.edu	37	chr19	56952809	56952809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctctccagtgtgaattcTttcatgttgggcgaggtgtg	12	8	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:56952809T>C	uc002qnd.2	-	5	1717	c.1555A>G	c.(1555-1557)AGA>GGA	p.R519G	ZNF667_uc010etl.2_Missense_Mutation_p.R301G|ZNF667_uc002qne.2_Missense_Mutation_p.R519G|ZNF667_uc010etm.2_Missense_Mutation_p.R462G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	519	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTGTGAATTCTTTCATGTTGG	0.438													C	56952809	T	C	56952809	3	2	231	1	0	0	0	0	1	0	0	0	18071	1617	56	3	281	3	ZNF667	19	56952809	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2256686	56952809	2176174	279	117026											
PEG3	5178	broad.mit.edu	37	chr19	57327880	57327880	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtatggattttctgatgttCtttcagggatgagctatgaa	11	4	3	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:57327880C>A	uc002qnu.2	-	7	2281	c.1930G>T	c.(1930-1932)GAA>TAA	p.E644*	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.E615*|PEG3_uc002qnv.2_Nonsense_Mutation_p.E644*|PEG3_uc002qnw.2_Nonsense_Mutation_p.E520*|PEG3_uc002qnx.2_Nonsense_Mutation_p.E518*|PEG3_uc010etr.2_Nonsense_Mutation_p.E644*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	644	C2H2-type 4.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGATGTTCTTTCAGGGAT	0.418													A	57327880	C	A	57327880	4	1	231	1	0	0	0	0	0	1	0	0	11720	922	32	5	2840	5	PEG3	19	57327880	Nonsense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	375071	57327880	1801103	280	117027											
PEG3	5178	broad.mit.edu	37	chr19	57328104	57328104	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactatgaaggaaggtttccTtacacaccctgcactcgtag	8	11	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:57328104T>G	uc002qnu.2	-	7	2057	c.1706A>C	c.(1705-1707)AAG>ACG	p.K569T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K540T|PEG3_uc002qnv.2_Missense_Mutation_p.K569T|PEG3_uc002qnw.2_Missense_Mutation_p.K445T|PEG3_uc002qnx.2_Missense_Mutation_p.K443T|PEG3_uc010etr.2_Missense_Mutation_p.K569T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	569	C2H2-type 3.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGGTTTCCTTACACACCCT	0.368													G	57328104	T	G	57328104	3	3	231	1	0	0	0	0	1	0	0	0	11720	1609	56	5	3064	5	PEG3	19	57328104	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	224	57328104	1800879	281	117028											
ZNF549	256051	broad.mit.edu	37	chr19	58048993	58048993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaccacccacagcagacaAgagtatgcacatagaagcag	9	12	0	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr19:58048993A>G	uc002qpb.1	+	4	870	c.621A>G	c.(619-621)CAA>CAG	p.Q207Q	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Silent_p.Q194Q	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(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)		ACAGCAGACAAGAGTATGCAC	0.438													G	58048993	A	G	58048993	2	3	231	1	0	0	0	0	0	0	0	1	17978	69	3	3		3	ZNF549	19	58048993	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	720889	58048993	1079990	282	117029											
SLA2	84174	broad.mit.edu	37	chr20	35261962	35261962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccatgggagactttggCcacgtggacgctggggatgt	15	10	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr20:35261962C>T	uc002xfv.2	-	4	624	c.262G>A	c.(262-264)GCC>ACC	p.A88T	SLA2_uc002xfu.2_Missense_Mutation_p.A88T	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	88	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GAGACTTTGGCCACGTGGACG	0.597													T	35261962	C	T	35261962	3	4	231	1	0	0	0	0	1	0	0	0	14364	739	26	2	543	2	SLA2	20	35261962	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08		35261962	27763558	283	117030											
WISP2	8839	broad.mit.edu	37	chr20	43355923	43355923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccaccctccaggggtcGcagtccacaaaacagtgcct	9	17	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr20:43355923G>A	uc002xmn.2	+	5	1081	c.728G>A	c.(727-729)CGC>CAC	p.R243H	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.R243H|WISP2_uc002xmq.2_Missense_Mutation_p.A161T	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	243					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TCCAGGGGTCGCAGTCCACAA	0.682													A	43355923	G	A	43355923	3	1	231	1	0	0	0	0	1	0	0	0	17370	1087	38	1	742	1	WISP2	20	43355923	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	8093961	43355923	19669597	284	117031											
TMPRSS15	5651	broad.mit.edu	37	chr21	19687479	19687479	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataccacaatctgcttcatcTgagccatcctcacagtgcag	6	14	4	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr21:19687479T>G	uc002ykw.2	-	17	2047	c.2016A>C	c.(2014-2016)TCA>TCC	p.S672S		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	672	Extracellular (Potential).|LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CTGCTTCATCTGAGCCATCCT	0.403													G	19687479	T	G	19687479	2	3	231	1	0	0	0	0	0	0	0	1	16243	1567	55	5		5	TMPRSS15	21	19687479	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		19687479	28442416	285	117032											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210864	28210864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatgatgcgatcacaacCagcttttacacactgtcctt	6	12	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr21:28210864C>T	uc002ymf.2	-	8	2553	c.2098G>A	c.(2098-2100)GGT>AGT	p.G700S		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	700	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		CGATCACAACCAGCTTTTACA	0.408													T	28210864	C	T	28210864	3	4	231	1	0	0	0	0	1	0	0	0	255	594	21	4	813	4	ADAMTS1	21	28210864	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	8523385	28210864	19919031	286	117033											
ADAMTS1	9510	broad.mit.edu	37	chr21	28211926	28211926	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggctgcaaaacgaagaAgtagccaatgcctttggctt	11	9	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr21:28211926A>C	uc002ymf.2	-	7	2463	c.2008T>G	c.(2008-2010)TTC>GTC	p.F670V		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	670	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		AAAACGAAGAAGTAGCCAATG	0.458													C	28211926	A	C	28211926	3	2	231	1	0	0	0	0	1	0	0	0	255	72	3	5	907	5	ADAMTS1	21	28211926	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1062	28211926	19917969	287	117034											
POTEH	23784	broad.mit.edu	37	chr22	16287378	16287378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctcgacggacgtggtAcctcggctccatgaaagcgc	11	13	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr22:16287378A>G	uc010gqp.2	-	1	560	c.508T>C	c.(508-510)TAC>CAC	p.Y170H	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.Y5H	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	170										skin(1)	1						CGGACGTGGTACCTCGGCTCC	0.582													G	16287378	A	G	16287378	3	3	231	1	0	0	0	0	1	0	0	0	12267	391	14	3	1169	3	POTEH	22	16287378	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08		16287378	35017188	288	117035											
CYP2D6	1565	broad.mit.edu	37	chr22	42522680	42522680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcaccgagaagctgaAgtgctgcagcagggaggtga	18	7	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr22:42522680A>C	uc003bce.2	-	9	1480	c.1390T>G	c.(1390-1392)TTC>GTC	p.F464V	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.F158V|CYP2D6_uc003bcf.2_Missense_Mutation_p.F413V	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	464							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			breast(1)|skin(1)	2						GAGAAGCTGAAGTGCTGCAGC	0.662													C	42522680	A	C	42522680	3	2	231	1	0	0	0	0	1	0	0	0	4169	72	3	5	107	5	CYP2D6	22	42522680	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	26235302	42522680	8781886	289	117036											
CELSR1	9620	broad.mit.edu	37	chr22	46859806	46859806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagctgaggaagggcgcGgagctgtcgaatcgcagaac	18	8	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr22:46859806G>A	uc003bhw.1	-	2	3981	c.3981C>T	c.(3979-3981)TCC>TCT	p.S1327S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1327	Extracellular (Potential).|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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		GGAAGGGCGCGGAGCTGTCGA	0.667													A	46859806	G	A	46859806	2	1	231	1	0	0	0	0	0	0	0	1	3221	1103	39	1		1	CELSR1	22	46859806	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	4337126	46859806	4444760	290	117037											
BRD1	23774	broad.mit.edu	37	chr22	50217634	50217634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggcactggccgaggccGgcgtgccgtgggcgctgggg	23	11	0	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chr22:50217634G>A	uc003biv.2	-	1	819	c.332C>T	c.(331-333)CCG>CTG	p.P111L	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.P111L|BRD1_uc011arh.1_Missense_Mutation_p.P111L|BRD1_uc003biu.3_Missense_Mutation_p.P111L	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	111					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCCGAGGCCGGCGTGCCGTG	0.607													A	50217634	G	A	50217634	3	1	231	1	0	0	0	0	1	0	0	0	1501	1116	39	1	2892	1	BRD1	22	50217634	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	3357828	50217634	1086932	291	117038											
MXRA5	25878	broad.mit.edu	37	chrX	3240515	3240515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctccctctagcatatTtcctccctgtagtgtctgag	10	12	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:3240515T>G	uc004crg.3	-	5	3368	c.3211A>C	c.(3211-3213)AAT>CAT	p.N1071H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1071						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTAGCATATTTCCTCCCTGT	0.458													G	3240515	T	G	3240515	3	3	231	1	0	0	0	0	1	0	0	0	10003	1841	64	5	5287	5	MXRA5	23	3240515	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08		3240515	152030045	292	117039											
NLGN4X	57502	broad.mit.edu	37	chrX	5821156	5821156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagtaggtcatgaccacGgcgctgagcatgacgtcgtt	13	11	1	3	rs144614029		TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:5821156G>A	uc010ndh.2	-	5	2064	c.1563C>T	c.(1561-1563)GCC>GCT	p.A521A	NLGN4X_uc004crp.2_Silent_p.A541A|NLGN4X_uc004crq.2_Silent_p.A521A|NLGN4X_uc010ndi.2_Silent_p.A558A|NLGN4X_uc004crr.2_Silent_p.A521A|NLGN4X_uc010ndj.2_Silent_p.A521A	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	521	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						TCATGACCACGGCGCTGAGCA	0.512													A	5821156	G	A	5821156	2	1	231	1	0	0	0	0	0	0	0	1	10464	1103	39	1		1	NLGN4X	23	5821156	Silent	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	2580641	5821156	149449404	293	117040											
NLGN4X	57502	broad.mit.edu	37	chrX	6069148	6069148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgggcagcatgtcatgCagtaaggatctctcatccag	11	10	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:6069148C>T	uc010ndh.2	-	2	861	c.360G>A	c.(358-360)CTG>CTA	p.L120L	NLGN4X_uc004crp.2_Silent_p.L120L|NLGN4X_uc004crq.2_Silent_p.L120L|NLGN4X_uc010ndi.2_Silent_p.L120L|NLGN4X_uc004crr.2_Silent_p.L120L|NLGN4X_uc010ndj.2_Silent_p.L120L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	120	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						GCATGTCATGCAGTAAGGATC	0.493													T	6069148	C	T	6069148	2	4	231	1	0	0	0	0	0	0	0	1	10464	697	25	2		2	NLGN4X	23	6069148	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	247992	6069148	149201412	294	117041											
NLGN4X	57502	broad.mit.edu	37	chrX	6069402	6069402	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgtcaatgagggtgaActtgatggcaagagcagtta	14	5	1	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:6069402A>C	uc010ndh.2	-	2	607	c.106T>G	c.(106-108)TTC>GTC	p.F36V	NLGN4X_uc004crp.2_Missense_Mutation_p.F36V|NLGN4X_uc004crq.2_Missense_Mutation_p.F36V|NLGN4X_uc010ndi.2_Missense_Mutation_p.F36V|NLGN4X_uc004crr.2_Missense_Mutation_p.F36V|NLGN4X_uc010ndj.2_Missense_Mutation_p.F36V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	36					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			skin(2)|large_intestine(1)|ovary(1)	4						ATGAGGGTGAACTTGATGGCA	0.502													C	6069402	A	C	6069402	3	2	231	1	0	0	0	0	1	0	0	0	10464	43	2	5	2364	5	NLGN4X	23	6069402	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	254	6069402	149201158	295	117042											
FAM9A	171482	broad.mit.edu	37	chrX	8763146	8763146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcttcctcttcttcTtcttcctcttcctcttcttc	0	18	9	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:8763146T>G	uc004csg.2	-	7	915	c.804A>C	c.(802-804)GAA>GAC	p.E268D		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	268	Glu-rich.					nucleolus					0		Hepatocellular(5;0.219)				cctcttcttcttcttcctctt	0.129													G	8763146	T	G	8763146	3	3	231	1	0	0	0	0	1	0	0	0	5659	1606	56	5	206	5	FAM9A	23	8763146	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2693744	8763146	146507414	296	117043											
MOSPD2	158747	broad.mit.edu	37	chrX	14913459	14913459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcctccattcccagatggTtattggaaattggtgttatt	8	7	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:14913459T>G	uc004cwi.2	+	4	353	c.265T>G	c.(265-267)TTA>GTA	p.L89V	MOSPD2_uc004cwj.2_Missense_Mutation_p.L26V	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	89	CRAL-TRIO.					integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)					TCCCAGATGGTTATTGGAAAT	0.299													G	14913459	T	G	14913459	3	3	231	1	0	0	0	0	1	0	0	0	9716	1722	60	5	279	5	MOSPD2	23	14913459	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	6150313	14913459	140357101	297	117044											
CXorf36	79742	broad.mit.edu	37	chrX	45060041	45060041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagccagggcggagggCggcagcctcaggccccagct	16	16	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:45060041C>T	uc004dgg.2	-	1	106	c.31G>A	c.(31-33)GCC>ACC	p.A11T	CXorf36_uc004dgi.3_Missense_Mutation_p.A11T	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	11						extracellular region				lung(1)	1						GGGCGGAGGGCGGCAGCCTCA	0.652													T	45060041	C	T	45060041	3	4	231	1	0	0	0	0	1	0	0	0	4106	768	27	1	1345	1	CXorf36	23	45060041	Missense_Mutation	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	30146582	45060041	110210519	298	117045											
ZNF182	7569	broad.mit.edu	37	chrX	47836329	47836329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtataatgagagttgacTtatcactgaaagttttctta	9	4	2	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:47836329T>G	uc004dir.2	-	7	1503	c.1157A>C	c.(1156-1158)AAG>ACG	p.K386T	ZNF182_uc004dis.2_Missense_Mutation_p.K367T|ZNF182_uc004dit.2_Missense_Mutation_p.K386T|ZNF182_uc011mlu.1_Missense_Mutation_p.K366T	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	386	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GAGAGTTGACTTATCACTGAA	0.368													G	47836329	T	G	47836329	3	3	231	1	0	0	0	0	1	0	0	0	17747	1609	56	5	766	5	ZNF182	23	47836329	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2776288	47836329	107434231	299	117046											
SUV39H1	6839	broad.mit.edu	37	chrX	48559088	48559088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgggcgtggctggggcGtccgcaccctggagaagatt	17	9	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:48559088G>A	uc004dkn.2	+	3	817	c.772G>A	c.(772-774)GTC>ATC	p.V258I	SUV39H1_uc011mmf.1_Missense_Mutation_p.V269I|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	258	Mediates interaction with MECOM (By similarity).|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				0						TGGCTGGGGCGTCCGCACCCT	0.602													A	48559088	G	A	48559088	3	1	231	1	0	0	0	0	1	0	0	0	15409	1145	40	1	782	1	SUV39H1	23	48559088	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	722759	48559088	106711472	300	117047											
CCNB3	85417	broad.mit.edu	37	chrX	50090646	50090646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacaccaacatgaagAcactgaccttgtcccgctac	6	15	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:50090646A>G	uc004dox.3	+	11	4130	c.3832A>G	c.(3832-3834)ACA>GCA	p.T1278A	CCNB3_uc004doy.2_Missense_Mutation_p.T1278A|CCNB3_uc004doz.2_Missense_Mutation_p.T174A|CCNB3_uc010njq.2_Missense_Mutation_p.T170A|CCNB3_uc004dpa.2_Missense_Mutation_p.T117A	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1278					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CAACATGAAGACACTGACCTT	0.498													G	50090646	A	G	50090646	3	3	231	1	0	0	0	0	1	0	0	0	2914	275	10	3	3866	3	CCNB3	23	50090646	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	1531558	50090646	105179914	301	117048											
PHF8	23133	broad.mit.edu	37	chrX	54037563	54037563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggaagacctgtgggaAtgaaaagtgtctgtccttgc	13	8	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:54037563A>G	uc004dsu.2	-	8	1119	c.1046T>C	c.(1045-1047)ATT>ACT	p.I349T	PHF8_uc004dst.2_Missense_Mutation_p.I313T|PHF8_uc004dsv.2_Missense_Mutation_p.I179T|PHF8_uc004dsw.2_Missense_Mutation_p.I313T|PHF8_uc004dsx.2_Missense_Mutation_p.I77T|PHF8_uc004dsy.2_Missense_Mutation_p.I313T	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	349	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						ACCTGTGGGAATGAAAAGTGT	0.507													G	54037563	A	G	54037563	3	3	231	1	0	0	0	0	1	0	0	0	11840	101	4	3	2366	3	PHF8	23	54037563	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3946917	54037563	101232997	302	117049											
GNL3L	54552	broad.mit.edu	37	chrX	54578117	54578117	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taactgcgtccacgtgcagaAgctggcagaccctgtgaccc	11	14	0	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:54578117A>C	uc004dth.1	+	11	1119	c.980A>C	c.(979-981)AAG>ACG	p.K327T	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	327					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1						CACGTGCAGAAGCTGGCAGAC	0.617													C	54578117	A	C	54578117	3	2	231	1	0	0	0	0	1	0	0	0	6538	72	3	5	1018	5	GNL3L	23	54578117	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	540554	54578117	100692443	303	117050											
ITIH5L	347365	broad.mit.edu	37	chrX	54783779	54783779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgctgggacctgtggaacTtgagattgtatttgggaatg	14	5	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:54783779T>C	uc004dtj.2	-	8	2758	c.2728A>G	c.(2728-2730)AGT>GGT	p.S910G		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	910	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						CCTGTGGAACTTGAGATTGTA	0.557													C	54783779	T	C	54783779	3	2	231	1	0	0	0	0	1	0	0	0	7908	1609	56	3	1237	3	ITIH5L	23	54783779	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	205662	54783779	100486781	304	117051											
ITIH5L	347365	broad.mit.edu	37	chrX	54783936	54783936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggtggggcactcggTttaagagataataagatttt	14	3	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:54783936T>G	uc004dtj.2	-	8	2601	c.2571A>C	c.(2569-2571)AAA>AAC	p.K857N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	857	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GGGCACTCGGTTTAAGAGATA	0.517													G	54783936	T	G	54783936	3	3	231	1	0	0	0	0	1	0	0	0	7908	1722	60	5	1394	5	ITIH5L	23	54783936	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	157	54783936	100486624	305	117052											
TRO	7216	broad.mit.edu	37	chrX	54951444	54951444	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagggatgtcatccaAgaatatgatgaatatttccc	9	7	1	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:54951444A>G	uc004dtq.2	+	6	1535	c.1428A>G	c.(1426-1428)CAA>CAG	p.Q476Q	TRO_uc004dts.2_Silent_p.Q476Q|TRO_uc004dtr.2_Silent_p.Q476Q|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Silent_p.Q79Q|TRO_uc011mok.1_Silent_p.Q7Q|TRO_uc004dtw.2_Silent_p.Q79Q|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	476	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						ATGTCATCCAAGAATATGATG	0.517													G	54951444	A	G	54951444	2	3	231	1	0	0	0	0	0	0	0	1	16571	69	3	3		3	TRO	23	54951444	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	167508	54951444	100319116	306	117053											
APEX2	27301	broad.mit.edu	37	chrX	55033430	55033430	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgccaaaacaaagcccaAgtgcgctcaaccaggcctca	7	15	2	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:55033430A>G	uc004dtz.2	+	6	1195	c.1119A>G	c.(1117-1119)CAA>CAG	p.Q373Q	APEX2_uc011mom.1_Silent_p.Q202Q	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	373					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)	1						ACAAAGCCCAAGTGCGCTCAA	0.547								Other_BER_factors					G	55033430	A	G	55033430	2	3	231	1	0	0	0	0	0	0	0	1	770	69	3	3		3	APEX2	23	55033430	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	81986	55033430	100237130	307	117054											
FAM123B	139285	broad.mit.edu	37	chrX	63411809	63411809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactctgaggagtcaaaAgttccccaggggctaggcca	13	11	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:63411809A>G	uc004dvo.2	-	2	1631	c.1358T>C	c.(1357-1359)CTT>CCT	p.L453P		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	453					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						AGGAGTCAAAAGTTCCCCAGG	0.532													G	63411809	A	G	63411809	3	3	231	1	0	0	0	0	1	0	0	0	5423	72	3	3	2053	3	FAM123B	23	63411809	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	8378379	63411809	91858751	308	117055											
PJA1	64219	broad.mit.edu	37	chrX	68381908	68381908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcagagtctcccagcTttcgccactggaggacaggg	13	15	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:68381908T>C	uc004dxh.2	-	2	1460	c.1174A>G	c.(1174-1176)AGC>GGC	p.S392G	PJA1_uc011mpi.1_Missense_Mutation_p.S110G|PJA1_uc004dxg.2_Missense_Mutation_p.S204G|PJA1_uc004dxi.2_Missense_Mutation_p.S337G	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	392							zinc ion binding				0						GTCTCCCAGCTTTCGCCACTG	0.587													C	68381908	T	C	68381908	3	2	231	1	0	0	0	0	1	0	0	0	11961	1609	56	3	761	3	PJA1	23	68381908	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4970099	68381908	86888652	309	117056											
TAF1	6872	broad.mit.edu	37	chrX	70598122	70598122	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagtccaaattttcccAatcaactggagatatagata	8	7	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:70598122A>T	uc004dzu.3	+	7	1019	c.968A>T	c.(967-969)CAA>CTA	p.Q323L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.Q344L	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	323	Protein kinase 1.				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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				AAATTTTCCCAATCAACTGGA	0.468													T	70598122	A	T	70598122	3	4	231	1	0	0	0	0	1	0	0	0	15510	130	5	5	1057	5	TAF1	23	70598122	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	2216214	70598122	84672438	310	117057											
PGK1	5230	broad.mit.edu	37	chrX	77380399	77380399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtcctgaaagcagcaAgaagtatgctgaggctgtca	13	8	1	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:77380399A>G	uc004ecz.3	+	9	1137	c.965A>G	c.(964-966)AAG>AGG	p.K322R	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.K294R	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	322					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						GAAAGCAGCAAGAAGTATGCT	0.507													G	77380399	A	G	77380399	3	3	231	1	0	0	0	0	1	0	0	0	11790	72	3	3	999	3	PGK1	23	77380399	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	6782277	77380399	77890161	311	117058											
P2RY10	27334	broad.mit.edu	37	chrX	78216571	78216571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtcctgctttgctgatcTtggatacaagcaaatgaatg	9	8	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:78216571T>C	uc004ede.2	+	4	923	c.554T>C	c.(553-555)CTT>CCT	p.L185P	P2RY10_uc004edf.2_Missense_Mutation_p.L185P	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	185	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TTTGCTGATCTTGGATACAAG	0.478													C	78216571	T	C	78216571	3	2	231	1	0	0	0	0	1	0	0	0	11347	1609	56	3	556	3	P2RY10	23	78216571	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	836172	78216571	77053989	312	117059											
CHM	1121	broad.mit.edu	37	chrX	85211343	85211343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggttgggggttaatttTtgagtctttaaatattcata	11	2	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:85211343T>G	uc004eet.2	-	8	1011	c.981A>C	c.(979-981)CAA>CAC	p.Q327H	CHM_uc011mqz.1_Missense_Mutation_p.Q179H	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	327					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				GGGTTAATTTTTGAGTCTTTA	0.328													G	85211343	T	G	85211343	3	3	231	1	0	0	0	0	1	0	0	0	3350	1838	64	5	1012	5	CHM	23	85211343	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	6994772	85211343	70059217	313	117060											
PABPC5	140886	broad.mit.edu	37	chrX	90691203	90691203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaaaaacattggagacgaCatagatgacgaaaaactgaa	9	5	0	4			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:90691203C>T	uc004efg.2	+	2	1067	c.627C>T	c.(625-627)GAC>GAT	p.D209D	PABPC5_uc004eff.1_Silent_p.D45D	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	209	RRM 3.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						TTGGAGACGACATAGATGACG	0.423													T	90691203	C	T	90691203	2	4	231	1	0	0	0	0	0	0	0	1	11367	477	17	4		4	PABPC5	23	90691203	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	5479860	90691203	64579357	314	117061											
PCDH19	57526	broad.mit.edu	37	chrX	99663303	99663303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagcgagatgatgcacTtggggctctggcggcacagc	15	12	1	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:99663303T>C	uc010nmz.2	-	1	1969	c.293A>G	c.(292-294)AAG>AGG	p.K98R	PCDH19_uc004efw.3_Missense_Mutation_p.K98R|PCDH19_uc004efx.3_Missense_Mutation_p.K98R	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	98	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GATGATGCACTTGGGGCTCTG	0.557													C	99663303	T	C	99663303	3	2	231	1	0	0	0	0	1	0	0	0	11514	1609	56	3	3177	3	PCDH19	23	99663303	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	8972100	99663303	55607257	315	117062											
ZMAT1	84460	broad.mit.edu	37	chrX	101139416	101139416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagttctctctcatcTttctgaaacaagtctttgga	6	11	5	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:101139416T>C	uc004eim.2	-	2	3968	c.470A>G	c.(469-471)AAG>AGG	p.K157R	ZMAT1_uc011mrl.1_Missense_Mutation_p.K328R|ZMAT1_uc004ein.2_Missense_Mutation_p.K157R|ZMAT1_uc011mrm.1_Missense_Mutation_p.K157R	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	157						nucleus	zinc ion binding			ovary(1)	1						CTCTCTCATCTTTCTGAAACA	0.403													C	101139416	T	C	101139416	3	2	231	1	0	0	0	0	1	0	0	0	17688	1609	56	3	937	3	ZMAT1	23	101139416	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1476113	101139416	54131144	316	117063											
PSMD10	5716	broad.mit.edu	37	chrX	107331217	107331217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagctgcataatgtaagGgagtacagccattttgattg	11	6	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:107331217G>A	uc004enp.1	-	3	424	c.326C>T	c.(325-327)CCC>CTC	p.P109L	PSMD10_uc004enq.1_Missense_Mutation_p.P109L|PSMD10_uc010nph.1_Intron	NM_002814	NP_002805	O75832	PSD10_HUMAN	proteasome 26S non-ATPase subunit 10 isoform 1	109	ANK 4.|Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|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 apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			ovary(1)	1						ATAATGTAAGGGAGTACAGCC	0.438													A	107331217	G	A	107331217	3	1	231	1	0	0	0	0	1	0	0	0	12693	1232	43	4	366	4	PSMD10	23	107331217	Missense_Mutation	SNP	G	TCGA-D7-A4Z0-01A-22D-A25D-08	6191801	107331217	47939343	317	117064											
ALG13	79868	broad.mit.edu	37	chrX	110951264	110951264	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcacagggtcctgacTtgtcctgggcaagccaagtc	10	12	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:110951264T>G	uc011msy.1	+	4	427	c.393T>G	c.(391-393)ACT>ACG	p.T131T	ALG13_uc011msw.1_Silent_p.T53T|ALG13_uc011msx.1_Silent_p.T27T|ALG13_uc011msz.1_Silent_p.T53T|ALG13_uc011mta.1_Silent_p.T27T|ALG13_uc011mtb.1_Silent_p.T27T			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	131					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						GGGTCCTGACTTGTCCTGGGC	0.522													G	110951264	T	G	110951264	2	3	231	1	0	0	0	0	0	0	0	1	515	1596	56	5		5	ALG13	23	110951264	Silent	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	3620047	110951264	44319296	318	117065											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698541	111698541	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcccaaccaggatgaAgagagtgtcactgatatgat	11	8	1	5			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:111698541A>C	uc004epo.1	+	3	1026	c.585A>C	c.(583-585)GAA>GAC	p.E195D		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	195							nucleic acid binding|zinc ion binding			ovary(1)	1						ACCAGGATGAAGAGAGTGTCA	0.468													C	111698541	A	C	111698541	3	2	231	1	0	0	0	0	1	0	0	0	17581	69	3	5	587	5	ZCCHC16	23	111698541	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	747277	111698541	43572019	319	117066											
IL13RA2	3598	broad.mit.edu	37	chrX	114238661	114238661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgtatcacagaaaaaTtctggaatctagaaagaact	6	7	4	3			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:114238661T>G	uc004epx.2	-	10	1250	c.1125A>C	c.(1123-1125)GAA>GAC	p.E375D		NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	375	Cytoplasmic (Potential).					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.E375K(1)		upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						CACAGAAAAATTCTGGAATCT	0.333													G	114238661	T	G	114238661	3	3	231	1	0	0	0	0	1	0	0	0	7630	1490	52	5	21	5	IL13RA2	23	114238661	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2540120	114238661	41031899	320	117067											
NKAP	79576	broad.mit.edu	37	chrX	119068469	119068469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgacgatctgtgtttcTtcttcttttcctttttcttg	5	9	5	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:119068469T>G	uc004esh.2	-	5	892	c.725A>C	c.(724-726)AAG>ACG	p.K242T	NKAP_uc004esg.2_Missense_Mutation_p.K129T	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	242	Necessary for interaction with CIR1.|Lys-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			ovary(2)	2						TCTGTGTTTCTTCTTCTTTTC	0.194													G	119068469	T	G	119068469	3	3	231	1	0	0	0	0	1	0	0	0	10439	1609	56	5	542	5	NKAP	23	119068469	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	4829808	119068469	36202091	321	117068											
THOC2	57187	broad.mit.edu	37	chrX	122769999	122769999	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcaattggatatttacgaAaaactgcaccacagaaacta	6	8	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:122769999A>T	uc004etu.2	-	19	1981	c.1949T>A	c.(1948-1950)TTT>TAT	p.F650Y	THOC2_uc011muh.1_Missense_Mutation_p.F575Y	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	650					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						ATATTTACGAAAAACTGCACC	0.323													T	122769999	A	T	122769999	3	4	231	1	0	0	0	0	1	0	0	0	15862	14	1	5	2912	5	THOC2	23	122769999	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3701530	122769999	32500561	322	117069											
ODZ1	10178	broad.mit.edu	37	chrX	123556129	123556129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggtcatacctgaaaaAcagtcacagtttggatcaat	7	7	3	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:123556129A>C	uc004euj.2	-	23	4507	c.4443T>G	c.(4441-4443)TGT>TGG	p.C1481W	ODZ1_uc011muj.1_Missense_Mutation_p.C1487W|ODZ1_uc010nqy.2_Missense_Mutation_p.C1488W	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1481	Extracellular (Potential).|NHL 5.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TACCTGAAAAACAGTCACAGT	0.433													C	123556129	A	C	123556129	3	2	231	1	0	0	0	0	1	0	0	0	10834	41	2	5	3770	5	ODZ1	23	123556129	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	786130	123556129	31714431	323	117070											
GPR112	139378	broad.mit.edu	37	chrX	135427928	135427928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttacatcagcatttcatgAgaatactacttatacagaat	4	7	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:135427928A>G	uc004ezu.1	+	6	2354	c.2063A>G	c.(2062-2064)GAG>GGG	p.E688G	GPR112_uc010nsb.1_Missense_Mutation_p.E483G|GPR112_uc010nsc.1_Missense_Mutation_p.E455G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	688	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GCATTTCATGAGAATACTACT	0.423													G	135427928	A	G	135427928	3	3	231	1	0	0	0	0	1	0	0	0	6629	304	11	3	2073	3	GPR112	23	135427928	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	11871799	135427928	19842632	324	117071											
FGF13	2258	broad.mit.edu	37	chrX	137717662	137717662	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcaggcttgttcttcTtcacatggttgcctttcatg	10	10	4	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:137717662T>G	uc004fam.2	-	4	1219	c.557A>C	c.(556-558)AAG>ACG	p.K186T	FGF13_uc004fan.2_Missense_Mutation_p.K133T|FGF13_uc011mwi.1_Missense_Mutation_p.K167T|FGF13_uc004faq.2_Missense_Mutation_p.K196T|FGF13_uc004far.2_Missense_Mutation_p.K167T|FGF13_uc011mwj.1_Missense_Mutation_p.K196T|FGF13_uc011mwk.1_Missense_Mutation_p.K140T	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	186					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTTGTTCTTCTTCACATGGTT	0.403													G	137717662	T	G	137717662	3	3	231	1	0	0	0	0	1	0	0	0	5842	1609	56	5	188	5	FGF13	23	137717662	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2289734	137717662	17552898	325	117072											
ATP11C	286410	broad.mit.edu	37	chrX	138828012	138828012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcatggcattgccagaaaTtttcctattgagaaatgggg	11	6	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:138828012T>C	uc004faz.2	-	25	2941	c.2842A>G	c.(2842-2844)ATT>GTT	p.I948V	ATP11C_uc004fax.2_Missense_Mutation_p.I156V|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.I948V	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	948	Cytoplasmic (Potential).				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			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					TTGCCAGAAATTTTCCTATTG	0.398													C	138828012	T	C	138828012	3	2	231	1	0	0	0	0	1	0	0	0	1121	1493	52	3	643	3	ATP11C	23	138828012	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	1110350	138828012	16442548	326	117073											
SLITRK2	84631	broad.mit.edu	37	chrX	144906229	144906229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaaatattgctgagcgAgtcaaggaacttcccagcgc	9	10	2	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:144906229A>G	uc004fcd.2	+	5	3276	c.2286A>G	c.(2284-2286)CGA>CGG	p.R762R	SLITRK2_uc010nsp.2_Silent_p.R762R|SLITRK2_uc010nso.2_Silent_p.R762R|SLITRK2_uc011mwq.1_Silent_p.R762R|SLITRK2_uc011mwr.1_Silent_p.R762R|SLITRK2_uc011mws.1_Silent_p.R762R|SLITRK2_uc004fcg.2_Silent_p.R762R|SLITRK2_uc011mwt.1_Silent_p.R762R|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	762	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCTGAGCGAGTCAAGGAAC	0.493													G	144906229	A	G	144906229	2	3	231	1	0	0	0	0	0	0	0	1	14743	291	11	3		3	SLITRK2	23	144906229	Silent	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	6078217	144906229	10364331	327	117074											
FMR1	2332	broad.mit.edu	37	chrX	147011719	147011719	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcggagtctgcgcactaagTtgtctctgataatgagaaat	10	7	2	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:147011719T>G	uc010nst.2	+	7	775	c.586T>G	c.(586-588)TTG>GTG	p.L196V	FMR1_uc011mwz.1_Missense_Mutation_p.L196V|FMR1_uc004fcj.2_Missense_Mutation_p.L196V|FMR1_uc004fck.3_Missense_Mutation_p.L196V|FMR1_uc004fcl.3_Missense_Mutation_p.L57V|FMR1_uc011mxa.1_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	196					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCACTAAGTTGTCTCTGAT	0.398									Fragile_X_syndrome				G	147011719	T	G	147011719	3	3	231	1	0	0	0	0	1	0	0	0	5960	1722	60	5	612	5	FMR1	23	147011719	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	2105490	147011719	8258841	328	117075											
AFF2	2334	broad.mit.edu	37	chrX	147744022	147744022	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccctagtggcttcctctttAttagctcctagcagtggcct	8	14	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:147744022A>T	uc004fcp.2	+	3	1253	c.774A>T	c.(772-774)TTA>TTT	p.L258F	AFF2_uc004fco.2_Missense_Mutation_p.L254F|AFF2_uc004fcq.2_Missense_Mutation_p.L254F|AFF2_uc004fcr.2_Missense_Mutation_p.L254F|AFF2_uc011mxb.1_Missense_Mutation_p.L258F|AFF2_uc004fcs.2_Missense_Mutation_p.L254F	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	258					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTCTTTATTAGCTCCTA	0.488													T	147744022	A	T	147744022	3	4	231	1	0	0	0	0	1	0	0	0	357	446	16	5	784	5	AFF2	23	147744022	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	732303	147744022	7526538	329	117076											
PASD1	139135	broad.mit.edu	37	chrX	150844474	150844474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actttttcctggcaggtgcaAgtttctgaggtaggagtcga	13	7	1	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:150844474A>C	uc004fev.3	+	16	2513	c.2181A>C	c.(2179-2181)CAA>CAC	p.Q727H		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	727						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGGTGCAAGTTTCTGAGG	0.502													C	150844474	A	C	150844474	3	2	231	1	0	0	0	0	1	0	0	0	11471	69	3	5	2239	5	PASD1	23	150844474	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	3100452	150844474	4426086	330	117077											
FATE1	89885	broad.mit.edu	37	chrX	150885864	150885864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatgactgccacccgacccaAgaaaatggtactgtatgggg	11	10	0	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:150885864A>T	uc004fex.2	+	2	311	c.227A>T	c.(226-228)AAG>ATG	p.K76M		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	fetal and adult testis expressed transcript	76						endoplasmic reticulum|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCGACCCAAGAAAATGGTA	0.567													T	150885864	A	T	150885864	3	4	231	1	0	0	0	0	1	0	0	0	5693	72	3	5	233	5	FATE1	23	150885864	Missense_Mutation	SNP	A	TCGA-D7-A4Z0-01A-22D-A25D-08	41390	150885864	4384696	331	117078											
MAGEA10	4109	broad.mit.edu	37	chrX	151304051	151304051	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactttgggattgaagatcTtcttcaggcatgcagcgctg	11	9	4	2			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:151304051T>G	uc004ffk.2	-	5	450	c.42A>C	c.(40-42)GAA>GAC	p.E14D	MAGEA10_uc004ffl.2_Missense_Mutation_p.E14D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	14											0	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGAAGATCTTCTTCAGGCA	0.567													G	151304051	T	G	151304051	3	3	231	1	0	0	0	0	1	0	0	0	9164	1606	56	5	1071	5	MAGEA10	23	151304051	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	418187	151304051	3966509	332	117079											
GABRA3	2556	broad.mit.edu	37	chrX	151393246	151393246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacatacagcttccaaacTtcagtgggcaggcatgcaca	8	11	1	0			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:151393246T>C	uc010ntk.1	-	6	863	c.623A>G	c.(622-624)AAG>AGG	p.K208R		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	208	Extracellular (Probable).				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			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCTTCCAAACTTCAGTGGGCA	0.373													C	151393246	T	C	151393246	3	2	231	1	0	0	0	0	1	0	0	0	6162	1609	56	3	875	3	GABRA3	23	151393246	Missense_Mutation	SNP	T	TCGA-D7-A4Z0-01A-22D-A25D-08	89195	151393246	3877314	333	117080											
GDI1	2664	broad.mit.edu	37	chrX	153666940	153666940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaccggaacccctactaCgggggcgagagctcctccat	12	14	0	1			TCGA-D7-A4Z0-01A-22D-A25D-08	TCGA-D7-A4Z0-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d90dfc-06ac-4725-887b-6dcca9eadd6b	ec32faed-705c-4247-9ebb-518ce17cdafb	g.chrX:153666940C>T	uc004fli.3	+	2	459	c.117C>T	c.(115-117)TAC>TAT	p.Y39Y	GDI1_uc011mzo.1_Silent_p.Y39Y	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	39					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	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)					ACCCCTACTACGGGGGCGAGA	0.617													T	153666940	C	T	153666940	2	4	231	1	0	0	0	0	0	0	0	1	6320	547	19	1		1	GDI1	23	153666940	Silent	SNP	C	TCGA-D7-A4Z0-01A-22D-A25D-08	2273694	153666940	1603620	334	117081											
RUNX3	864	broad.mit.edu	37	chr1	25229007	25229007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgctgatgctcgtgcccGagggcgtggcgctgtagggg	20	10	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:25229007G>A	uc001bjq.2	-	5	1265	c.854C>T	c.(853-855)TCG>TTG	p.S285L	RUNX3_uc010oen.1_Missense_Mutation_p.S232L|RUNX3_uc009vrj.2_Missense_Mutation_p.S299L|RUNX3_uc001bjr.2_Missense_Mutation_p.S299L|RUNX3_uc001bjs.2_RNA	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	285	Pro/Ser/Thr-rich.				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				0		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)		GCTCGTGCCCGAGGGCGTGGC	0.692													A	25229007	G	A	25229007	3	1	232	1	0	0	0	0	1	0	0	0	13749	1059	37	1	397	1	RUNX3	1	25229007	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		25229007	224021614	1	117082											
EIF2C4	192670	broad.mit.edu	37	chr1	36306902	36306902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccggtactgtgccaccGttcgggtgcagacttcccgg	13	15	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:36306902G>A	uc001bzj.1	+	14	2051	c.1861G>A	c.(1861-1863)GTT>ATT	p.V621I		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	621	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTGCCACCGTTCGGGTGCA	0.577													A	36306902	G	A	36306902	3	1	232	1	0	0	0	0	1	0	0	0	5008	1145	40	1	1915	1	EIF2C4	1	36306902	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	11077895	36306902	212943719	2	117083											
DHCR24	1718	broad.mit.edu	37	chr1	55349369	55349369	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttgtacttcccgacAcgtagtgagacagtgagcca	10	11	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:55349369A>T	uc001cyc.1	-	2	438	c.309T>A	c.(307-309)CGT>CGA	p.R103R	DHCR24_uc010ook.1_Silent_p.R62R	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	103	FAD-binding PCMH-type.				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			pancreas(1)	1						ACTTCCCGACACGTAGTGAGA	0.537													T	55349369	A	T	55349369	2	4	232	1	0	0	0	0	0	0	0	1	4476	146	6	5		5	DHCR24	1	55349369	Silent	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	19042467	55349369	193901252	3	117084											
LCE2A	353139	broad.mit.edu	37	chr1	152671655	152671655	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgttgtgagtgtgaaccttCtgggggctctggctgctgcc	15	9	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:152671655C>A	uc001faj.2	+	2	329	c.278C>A	c.(277-279)TCT>TAT	p.S93Y		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	93	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGAACCTTCTGGGGGCTCT	0.622													A	152671655	C	A	152671655	3	1	232	1	0	0	0	0	1	0	0	0	8665	913	32	5	280	5	LCE2A	1	152671655	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	97322286	152671655	96578966	4	117085											
ADAM15	8751	broad.mit.edu	37	chr1	155026661	155026661	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggaagagtgcggggataTgcaggctcctgggtgtccat	17	8	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:155026661T>C	uc001fgr.1	+	5	479	c.378T>C	c.(376-378)TAT>TAC	p.Y126Y	ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_RNA|ADAM15_uc010pet.1_Silent_p.Y110Y|ADAM15_uc010peu.1_Silent_p.Y143Y|ADAM15_uc001fgt.1_Silent_p.Y126Y|ADAM15_uc010pev.1_Silent_p.Y136Y|ADAM15_uc001fgs.1_Silent_p.Y126Y|ADAM15_uc001fgu.1_Silent_p.Y126Y|ADAM15_uc001fgw.1_Silent_p.Y126Y|ADAM15_uc001fgv.1_Silent_p.Y126Y|ADAM15_uc001fgx.1_Silent_p.Y126Y|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	126					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	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)			TGCGGGGATATGCAGGCTCCT	0.547													C	155026661	T	C	155026661	2	2	232	1	0	0	0	0	0	0	0	1	237	1471	51	3		3	ADAM15	1	155026661	Silent	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	2355006	155026661	94223960	5	117086											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018090	161018090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacaggggcatagacagccGtctggactgggctgcccctc	14	13	1	1	rs137873621		TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:161018090G>T	uc001fxl.2	-	12	3067	c.2721C>A	c.(2719-2721)GAC>GAA	p.D907E	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.D696E|ARHGAP30_uc001fxm.2_Missense_Mutation_p.D753E|ARHGAP30_uc009wtx.2_Missense_Mutation_p.D580E	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	907					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATAGACAGCCGTCTGGACTGG	0.612													T	161018090	G	T	161018090	3	4	232	1	0	0	0	0	1	0	0	0	879	1136	40	5	588	5	ARHGAP30	1	161018090	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	5991429	161018090	88232531	6	117087											
C1orf49	84066	broad.mit.edu	37	chr1	178489948	178489948	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttcacaagaagacgaTggcaccacaaaaaacaaaac	6	11	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:178489948T>G	uc001glt.1	+	7	594	c.482T>G	c.(481-483)ATG>AGG	p.M161R	C1orf49_uc001glu.1_Missense_Mutation_p.M161R|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Missense_Mutation_p.M169R	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	hypothetical protein LOC84066	161						microtubule cytoskeleton					0						AAGAAGACGATGGCACCACAA	0.542													G	178489948	T	G	178489948	3	3	232	1	0	0	0	0	1	0	0	0	2041	1464	51	5	532	5	C1orf49	1	178489948	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	17471858	178489948	70760673	7	117088											
LAMC2	3918	broad.mit.edu	37	chr1	183208626	183208626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaagagccctggggagCgctgctgctgatgcacagag	16	10	0	4			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:183208626C>T	uc001gqa.2	+	20	3311	c.2997C>T	c.(2995-2997)AGC>AGT	p.S999S	LAMC2_uc001gpz.3_Silent_p.S999S|LAMC2_uc010poa.1_Silent_p.S699S	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	999	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						CCCTGGGGAGCGCTGCTGCTG	0.527													T	183208626	C	T	183208626	2	4	232	1	0	0	0	0	0	0	0	1	8615	767	27	1		1	LAMC2	1	183208626	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	4718678	183208626	66041995	8	117089											
USH2A	7399	broad.mit.edu	37	chr1	216262463	216262463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgatcattagttgtagTtacttccactggtgacccct	8	11	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:216262463T>C	uc001hku.1	-	23	5164	c.4777A>G	c.(4777-4779)ACT>GCT	p.T1593A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1593	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAGTTGTAGTTACTTCCACT	0.333										HNSCC(13;0.011)			C	216262463	T	C	216262463	3	2	232	1	0	0	0	0	1	0	0	0	17033	1725	60	3	11031	3	USH2A	1	216262463	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	33053837	216262463	32988158	9	117090											
ZP4	57829	broad.mit.edu	37	chr1	238053244	238053244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccgcgcctgctccttcaactCcaactggcatgatgtagtgg	10	14	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:238053244C>A	uc001hym.2	-	3	323	c.323G>T	c.(322-324)GGA>GTA	p.G108V	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	108	Extracellular (Potential).				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			ovary(2)|skin(1)	3	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)			TCCTTCAACTCCAACTGGCAT	0.567													A	238053244	C	A	238053244	3	1	232	1	0	0	0	0	1	0	0	0	18215	855	30	5	1339	5	ZP4	1	238053244	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	21790781	238053244	11197377	10	117091											
AKT3	10000	broad.mit.edu	37	chr1	243716133	243716133	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattaatattaattcaaaaAgtttctcatggtcctggttg	6	7	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr1:243716133A>C	uc001iab.1	-	10	1142	c.1061T>G	c.(1060-1062)CTT>CGT	p.L354R	AKT3_uc001hzz.1_Missense_Mutation_p.L354R	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	354	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)			TAATTCAAAAAGTTTCTCATG	0.398													C	243716133	A	C	243716133	3	2	232	1	0	0	0	0	1	0	0	0	481	72	3	5	442	5	AKT3	1	243716133	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	5662889	243716133	5534488	11	117092											
C2orf78	388960	broad.mit.edu	37	chr2	74042660	74042660	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttgaaaatgggattgagtCtagcagtgatttggcagaca	12	4	1	4			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr2:74042660C>T	uc002sjr.1	+	3	1431	c.1310C>T	c.(1309-1311)TCT>TTT	p.S437F		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	437										ovary(2)	2						GGGATTGAGTCTAGCAGTGAT	0.468													T	74042660	C	T	74042660	3	4	232	1	0	0	0	0	1	0	0	0	2195	913	32	4	1320	4	C2orf78	2	74042660	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		74042660	169156713	12	117093											
XIRP2	129446	broad.mit.edu	37	chr2	168100923	168100923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagacagtccagcaagaAgaaatcgtaagaggtgatgt	12	5	0	5			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr2:168100923A>C	uc002udx.2	+	8	3039	c.3021A>C	c.(3019-3021)GAA>GAC	p.E1007D	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E832D|XIRP2_uc010fpq.2_Missense_Mutation_p.E785D|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	832					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCAGCAAGAAGAAATCGTAA	0.378													C	168100923	A	C	168100923	3	2	232	1	0	0	0	0	1	0	0	0	17427	69	3	5	3051	5	XIRP2	2	168100923	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	94058263	168100923	75098450	13	117094											
LRP2	4036	broad.mit.edu	37	chr2	170042284	170042284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgatgttactgttttgccGgcaggtctttccatctggtt	10	9	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr2:170042284G>A	uc002ues.2	-	50	9787	c.9574C>T	c.(9574-9576)CGG>TGG	p.R3192W		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3192	EGF-like 12; calcium-binding (Potential).|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	CTGTTTTGCCGGCAGGTCTTT	0.433													A	170042284	G	A	170042284	3	1	232	1	0	0	0	0	1	0	0	0	8956	1115	39	1	4513	1	LRP2	2	170042284	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	1941361	170042284	73157089	14	117095											
TTLL4	9654	broad.mit.edu	37	chr2	219610881	219610881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtacctcccataggaaAcgatgactggctgggctgct	12	10	0	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr2:219610881A>G	uc002viy.2	+	8	2271	c.1901A>G	c.(1900-1902)AAC>AGC	p.N634S	TTLL4_uc010zkl.1_Missense_Mutation_p.N469S|TTLL4_uc010fvx.2_Missense_Mutation_p.N634S|TTLL4_uc010zkm.1_5'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	634	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		CCCATAGGAAACGATGACTGG	0.552													G	219610881	A	G	219610881	3	3	232	1	0	0	0	0	1	0	0	0	16726	43	2	3	1923	3	TTLL4	2	219610881	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	49568597	219610881	23588492	15	117096											
LHFPL4	375323	broad.mit.edu	37	chr3	9547696	9547696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaggtctgtttgccGgttgcccagcacgaaggcga	14	12	1	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr3:9547696G>A	uc003bry.2	-	3	884	c.598C>T	c.(598-600)CGG>TGG	p.R200W		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	200						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					TCTGTTTGCCGGTTGCCCAGC	0.652													A	9547696	G	A	9547696	3	1	232	1	0	0	0	0	1	0	0	0	8767	1115	39	1	153	1	LHFPL4	3	9547696	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		9547696	188474734	16	117097											
CCR1	1230	broad.mit.edu	37	chr3	46245463	46245463	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctcgctgtacaagcctgtGtaataaaacccagagaggat	9	9	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr3:46245463G>T	uc003cph.1	-	2	413	c.342C>A	c.(340-342)TAC>TAA	p.Y114*	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	114	Helical; Name=3; (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAAGCCTGTGTAATAAAACC	0.507													T	46245463	G	T	46245463	4	4	232	1	0	0	0	0	0	1	0	0	2939	1372	48	5	729	5	CCR1	3	46245463	Nonsense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	36697767	46245463	151776967	17	117098											
CADM2	253559	broad.mit.edu	37	chr3	85932529	85932529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctctctctgatgaaggAcagtacacctgttctttatt	8	9	3	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr3:85932529A>G	uc003dqj.2	+	3	926	c.300A>G	c.(298-300)GGA>GGG	p.G100G	CADM2_uc003dqk.2_Silent_p.G109G|CADM2_uc003dql.2_Silent_p.G102G	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	100	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		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)		CTGATGAAGGACAGTACACCT	0.433													G	85932529	A	G	85932529	2	3	232	1	0	0	0	0	0	0	0	1	2567	262	10	3		3	CADM2	3	85932529	Silent	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	39687066	85932529	112089901	18	117099											
COL6A6	131873	broad.mit.edu	37	chr3	130282057	130282057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccgtgtggccctggcccaGtacagtgataaacttcacag	10	12	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr3:130282057G>T	uc010htl.2	+	2	241	c.210G>T	c.(208-210)CAG>CAT	p.Q70H		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	70	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CCCTGGCCCAGTACAGTGATA	0.502													T	130282057	G	T	130282057	3	4	232	1	0	0	0	0	1	0	0	0	3703	1020	36	5	216	5	COL6A6	3	130282057	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	44349528	130282057	67740373	19	117100											
MED12L	116931	broad.mit.edu	37	chr3	150877763	150877763	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgataggaccaaacaactcgAgtatcggggcccccagccct	10	14	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr3:150877763A>T	uc003eyp.2	+	7	1020	c.982A>T	c.(982-984)AGT>TGT	p.S328C	MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Missense_Mutation_p.S328C|MED12L_uc003eyo.2_Missense_Mutation_p.S328C	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	328					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAACAACTCGAGTATCGGGGC	0.612													T	150877763	A	T	150877763	3	4	232	1	0	0	0	0	1	0	0	0	9429	304	11	5	1008	5	MED12L	3	150877763	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	20595706	150877763	47144667	20	117101											
PTPN13	5783	broad.mit.edu	37	chr4	87610306	87610306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctcattttcctacgtgaAacacttggtaaaactggttc	6	11	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr4:87610306A>G	uc003hpz.2	+	5	989	c.509A>G	c.(508-510)AAA>AGA	p.K170R	PTPN13_uc003hpy.2_Missense_Mutation_p.K170R|PTPN13_uc003hqa.2_Missense_Mutation_p.K170R|PTPN13_uc003hqb.2_Missense_Mutation_p.K170R	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	170	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCCTACGTGAAACACTTGGTA	0.378													G	87610306	A	G	87610306	3	3	232	1	0	0	0	0	1	0	0	0	12782	14	1	3	523	3	PTPN13	4	87610306	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08		87610306	103543970	21	117102											
ZFP42	132625	broad.mit.edu	37	chr4	188923983	188923983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccagcaactgaagaaaCgggcaaagacaagacaccag	11	10	0	5			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr4:188923983C>T	uc003izg.1	+	3	267	c.22C>T	c.(22-24)CGG>TGG	p.R8W	ZFP42_uc003izh.1_Missense_Mutation_p.R8W|ZFP42_uc003izi.1_Missense_Mutation_p.R8W	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	8					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		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)		ACTGAAGAAACGGGCAAAGAC	0.532													T	188923983	C	T	188923983	3	4	232	1	0	0	0	0	1	0	0	0	17647	527	19	1	24	1	ZFP42	4	188923983	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	101313677	188923983	2230293	22	117103											
FAM81B	153643	broad.mit.edu	37	chr5	94749724	94749724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactgaacaaccaggcgCgtaccatagctttccttctt	7	13	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr5:94749724C>T	uc003kla.1	+	4	413	c.367C>T	c.(367-369)CGT>TGT	p.R123C	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	123										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CAACCAGGCGCGTACCATAGC	0.502													T	94749724	C	T	94749724	3	4	232	1	0	0	0	0	1	0	0	0	5629	768	27	1	381	1	FAM81B	5	94749724	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		94749724	86165536	23	117104											
TSLP	85480	broad.mit.edu	37	chr5	110407621	110407621	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccttactatatgttctgtcAgtttctttcaggaaaatctt	6	8	5	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr5:110407621A>T	uc003kpb.2	+	1	232	c.33A>T	c.(31-33)TCA>TCT	p.S11S	TSLP_uc003kpa.2_Splice_Site|TSLP_uc010jbt.1_5'Flank	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1	11				MFPFALLYVLS -> MKCLGQSKKEE (in Ref. 3; AAH40592).		extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATGTTCTGTCAGTTTCTTTCA	0.413													T	110407621	A	T	110407621	2	4	232	1	0	0	0	0	0	0	0	1	16625	175	7	5		5	TSLP	5	110407621	Silent	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	15657897	110407621	70507639	24	117105											
RNF145	153830	broad.mit.edu	37	chr5	158585955	158585955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatggcagtggcacagaGggcaggtctcctggacatac	14	10	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr5:158585955G>A	uc003lxp.2	-	11	2028	c.1715C>T	c.(1714-1716)CCT>CTT	p.P572L	RNF145_uc011ddy.1_Missense_Mutation_p.P586L|RNF145_uc003lxo.1_Missense_Mutation_p.P600L|RNF145_uc011ddz.1_Missense_Mutation_p.P589L|RNF145_uc010jiq.1_Missense_Mutation_p.P602L	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	572	RING-type; atypical.					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGCACAGAGGGCAGGTCTC	0.493													A	158585955	G	A	158585955	3	1	232	1	0	0	0	0	1	0	0	0	13447	1000	35	4	280	4	RNF145	5	158585955	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	48178334	158585955	22329305	25	117106											
ZNF354C	30832	broad.mit.edu	37	chr5	178506747	178506747	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcatactggggaaaaActttatacatgtgaggaatg	9	4	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr5:178506747A>C	uc003mju.2	+	5	1429	c.1314A>C	c.(1312-1314)AAA>AAC	p.K438N		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		CTGGGGAAAAACTTTATACAT	0.383													C	178506747	A	C	178506747	3	2	232	1	0	0	0	0	1	0	0	0	17863	40	2	5	1328	5	ZNF354C	5	178506747	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	19920792	178506747	2408513	26	117107											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101031	27101031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgctggagtacctgaccGccgagatcctggaactggcg	15	12	0	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:27101031G>A	uc003niw.2	+	1	215	c.181G>A	c.(181-183)GCC>ACC	p.A61T	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	61					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						GTACCTGACCGCCGAGATCCT	0.677													A	27101031	G	A	27101031	3	1	232	1	0	0	0	0	1	0	0	0	7133	1087	38	1	183	1	HIST1H2AG	6	27101031	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		27101031	144014036	27	117108											
OR12D2	26529	broad.mit.edu	37	chr6	29364533	29364533	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagtgacagacattcaAgaactgcagccttttctctt	9	9	2	3			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:29364533A>G	uc003nmf.3	+	1	118	c.57A>G	c.(55-57)CAA>CAG	p.Q19Q		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAGACATTCAAGAACTGCAGC	0.438													G	29364533	A	G	29364533	2	3	232	1	0	0	0	0	0	0	0	1	10931	69	3	3		3	OR12D2	6	29364533	Silent	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	2263502	29364533	141750534	28	117109											
TNF	7124	broad.mit.edu	37	chr6	31545010	31545010	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatcagagggcctgtaccTcatctactcccaggtcctct	8	16	4	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:31545010T>G	uc003nui.2	+	4	567	c.398T>G	c.(397-399)CTC>CGC	p.L133R	TNF_uc003nuj.2_5'UTR	NM_000594	NP_000585	P01375	TNFA_HUMAN	tumor necrosis factor alpha	133	Extracellular (Potential).				activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			ovary(1)|pancreas(1)|skin(1)	3		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	GGCCTGTACCTCATCTACTCC	0.632									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				G	31545010	T	G	31545010	3	3	232	1	0	0	0	0	1	0	0	0	16268	1551	54	5	412	5	TNF	6	31545010	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	2180477	31545010	139570057	29	117110											
SLC26A8	116369	broad.mit.edu	37	chr6	35919039	35919039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgacaaggcaaacagcacGgcgtcgtgaacgctgaggaa	13	10	0	3			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:35919039G>A	uc003olm.2	-	19	2484	c.2373C>T	c.(2371-2373)GCC>GCT	p.A791A	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.A373A|SLC26A8_uc003oln.2_Silent_p.A791A|SLC26A8_uc003oll.2_Silent_p.A686A	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	791	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				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			ovary(2)	2						CAAACAGCACGGCGTCGTGAA	0.493													A	35919039	G	A	35919039	2	1	232	1	0	0	0	0	0	0	0	1	14523	1103	39	1		1	SLC26A8	6	35919039	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	4374029	35919039	135196028	30	117111											
SLC26A8	116369	broad.mit.edu	37	chr6	35987480	35987480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgctcctctctagttgtGccattcctggatgagtggaa	12	10	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:35987480G>A	uc003olm.2	-	2	116	c.5C>T	c.(4-6)GCA>GTA	p.A2V	SLC26A8_uc003oln.2_Missense_Mutation_p.A2V|SLC26A8_uc003oll.2_Missense_Mutation_p.A2V	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	2	Cytoplasmic (Potential).				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			ovary(2)	2						CTCTAGTTGTGCCATTCCTGG	0.393													A	35987480	G	A	35987480	3	1	232	1	0	0	0	0	1	0	0	0	14523	1319	46	2	2983	2	SLC26A8	6	35987480	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	68441	35987480	135127587	31	117112											
POLR1C	9533	broad.mit.edu	37	chr6	43488442	43488442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaccctgcttgagcccgtGgaaggggaggcagctgagga	16	10	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:43488442G>A	uc003ovn.2	+	7	792	c.735G>A	c.(733-735)GTG>GTA	p.V245V	POLR1C_uc003ovo.1_Silent_p.V245V	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	245					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				0	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)			TTGAGCCCGTGGAAGGGGAGG	0.532													A	43488442	G	A	43488442	2	1	232	1	0	0	0	0	0	0	0	1	12211	1335	47	4		4	POLR1C	6	43488442	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	7500962	43488442	127626625	32	117113											
DEFB112	245915	broad.mit.edu	37	chr6	50016324	50016324	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtctttgagtacattTtttcaagtttcagtctacat	5	6	4	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:50016324T>C	uc011dws.1	-	1	41	c.41A>G	c.(40-42)AAA>AGA	p.K14R		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	14					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					TGAGTACATTTTTTCAAGTTT	0.323													C	50016324	T	C	50016324	3	2	232	1	0	0	0	0	1	0	0	0	4401	1841	64	3	307	3	DEFB112	6	50016324	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	6527882	50016324	121098743	33	117114											
USP45	85015	broad.mit.edu	37	chr6	99894207	99894207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagggctttcattcagacGtgactcagaattcatgaggc	11	8	4	4			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr6:99894207G>A	uc003ppx.2	-	14	1974	c.1441C>T	c.(1441-1443)CGT>TGT	p.R481C	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.R161C	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	481					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		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)		TCATTCAGACGTGACTCAGAA	0.403													A	99894207	G	A	99894207	3	1	232	1	0	0	0	0	1	0	0	0	17073	1145	40	1	1023	1	USP45	6	99894207	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	49877883	99894207	71220860	34	117115											
AIMP2	7965	broad.mit.edu	37	chr7	6063309	6063309	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttttaacacggccctcaAgctccttaagtgaattgccg	7	13	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr7:6063309A>C	uc003spo.2	+	4	1063	c.950A>C	c.(949-951)AAG>ACG	p.K317T	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR|EIF2AK1_uc011jwm.1_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	317	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						ACGGCCCTCAAGCTCCTTAAG	0.458													C	6063309	A	C	6063309	3	2	232	1	0	0	0	0	1	0	0	0	434	72	3	5	964	5	AIMP2	7	6063309	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08		6063309	153075354	35	117116											
PTPN12	5782	broad.mit.edu	37	chr7	77256920	77256920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagtactgaaagcatttctActaggaaagtattgccaatg	8	7	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr7:77256920A>G	uc003ugh.2	+	13	2015	c.1924A>G	c.(1924-1926)ACT>GCT	p.T642A	PTPN12_uc011kgp.1_Missense_Mutation_p.T523A|PTPN12_uc011kgq.1_Missense_Mutation_p.T512A|PTPN12_uc010lds.2_Missense_Mutation_p.T374A	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	642						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						AAGCATTTCTACTAGGAAAGT	0.343													G	77256920	A	G	77256920	3	3	232	1	0	0	0	0	1	0	0	0	12781	391	14	3	1974	3	PTPN12	7	77256920	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	71193611	77256920	81881743	36	117117											
RGS20	8601	broad.mit.edu	37	chr8	54791954	54791954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgaggctccccggaggcGcctggacttctcccccctgc	11	20	1	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr8:54791954G>A	uc003xrp.2	+	2	394	c.302G>A	c.(301-303)CGC>CAC	p.R101H	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	101					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CCCCGGAGGCGCCTGGACTTC	0.731													A	54791954	G	A	54791954	3	1	232	1	0	0	0	0	1	0	0	0	13303	1087	38	1	308	1	RGS20	8	54791954	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		54791954	91572068	37	117118											
XKR4	114786	broad.mit.edu	37	chr8	56015093	56015093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaatgaagaaaagcagCgacgtggcgttcaccccgct	11	11	1	3			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr8:56015093C>T	uc003xsf.2	+	1	77	c.45C>T	c.(43-45)AGC>AGT	p.S15S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	15						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGAAAAGCAGCGACGTGGCGT	0.602													T	56015093	C	T	56015093	2	4	232	1	0	0	0	0	0	0	0	1	17430	767	27	1		1	XKR4	8	56015093	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	1223139	56015093	90348929	38	117119											
VCPIP1	80124	broad.mit.edu	37	chr8	67577533	67577533	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctccatccaaatacacaataGacccatctcctctgaccttt	2	16	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr8:67577533G>C	uc003xwn.2	-	1	1920	c.1661C>G	c.(1660-1662)TCT>TGT	p.S554C	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	554					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		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)			ATACACAATAGACCCATCTCC	0.433													C	67577533	G	C	67577533	3	2	232	1	0	0	0	0	1	0	0	0	17138	942	33	5	2019	5	VCPIP1	8	67577533	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	11562440	67577533	78786489	39	117120											
ERMP1	79956	broad.mit.edu	37	chr9	5805111	5805111	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcagaaccacttctcccGaggataggggtaaacatctc	8	11	3	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr9:5805111G>A	uc003zjm.1	-	10	1884	c.1830C>T	c.(1828-1830)CTC>CTT	p.L610L	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Silent_p.L224L	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	610	Extracellular (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CACTTCTCCCGAGGATAGGGG	0.393													A	5805111	G	A	5805111	2	1	232	1	0	0	0	0	0	0	0	1	5236	1045	37	1		1	ERMP1	9	5805111	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		5805111	135408320	40	117121											
ROR2	4920	broad.mit.edu	37	chr9	94519612	94519612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcccgttggtggccacGcactggtagtagccagtgtc	12	12	1	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr9:94519612G>A	uc004arj.1	-	3	604	c.405C>T	c.(403-405)TGC>TGT	p.C135C	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.2_Silent_p.C135C	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	135	Extracellular (Potential).|Ig-like C2-type.				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						TGGTGGCCACGCACTGGTAGT	0.557													A	94519612	G	A	94519612	2	1	232	1	0	0	0	0	0	0	0	1	13527	1079	38	1		1	ROR2	9	94519612	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	88714501	94519612	46693819	41	117122											
TEX10	54881	broad.mit.edu	37	chr9	103092274	103092274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatctgttcagttgcttActatttagcctagagccatc	7	10	2	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr9:103092274A>G	uc004bas.2	-	6	1643	c.1428T>C	c.(1426-1428)AGT>AGC	p.S476S	TEX10_uc011lvf.1_Silent_p.S315S|TEX10_uc011lvg.1_Silent_p.S479S|TEX10_uc011lvh.1_Silent_p.S411S	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	476						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCAGTTGCTTACTATTTAGCC	0.428													G	103092274	A	G	103092274	2	3	232	1	0	0	0	0	0	0	0	1	15769	388	14	3		3	TEX10	9	103092274	Silent	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	8572662	103092274	38121157	42	117123											
OR1J2	26740	broad.mit.edu	37	chr9	125273389	125273389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttctcagatgtatttTtttatattttttactgacct	4	6	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr9:125273389T>G	uc004bmj.1	+	4	1164	c.309T>G	c.(307-309)TTT>TTG	p.F103L	OR1J2_uc011lyv.1_Missense_Mutation_p.F103L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						AGATGTATTTTTTTATATTTT	0.398													G	125273389	T	G	125273389	3	3	232	1	0	0	0	0	1	0	0	0	10960	1838	64	5	311	5	OR1J2	9	125273389	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	22181115	125273389	15940042	43	117124											
GATA3	2625	broad.mit.edu	37	chr10	8100408	8100408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaccacggctccccgGggcccctctccgtctacccc	7	24	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr10:8100408G>A	uc001ika.2	+	3	939	c.382G>A	c.(382-384)GGG>AGG	p.G128R	GATA3_uc001ijz.2_Missense_Mutation_p.G128R	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	128					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			breast(17)|ovary(3)|central_nervous_system(2)	22						CGGCTCCCCGGGGCCCCTCTC	0.716			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8100408	G	A	8100408	3	1	232	1	0	0	0	0	1	0	0	0	6255	1232	43	4	388	4	GATA3	10	8100408	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		8100408	127434339	44	117125											
GATA3	2625	broad.mit.edu	37	chr10	8100563	8100563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggctcggcccggcaggaCgagaaagagtgcctcaagta	15	12	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr10:8100563C>T	uc001ika.2	+	3	1094	c.537C>T	c.(535-537)GAC>GAT	p.D179D	GATA3_uc001ijz.2_Silent_p.D179D	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	179					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			breast(17)|ovary(3)|central_nervous_system(2)	22						CCCGGCAGGACGAGAAAGAGT	0.697			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						T	8100563	C	T	8100563	2	4	232	1	0	0	0	0	0	0	0	1	6255	535	19	1		1	GATA3	10	8100563	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	155	8100563	127434184	45	117126											
NEBL	10529	broad.mit.edu	37	chr10	21101831	21101831	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccacgacgggagtaaagccTctcccctttgttttttcaaa	7	12	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr10:21101831T>A	uc001iqi.2	-	24	2782	c.2385A>T	c.(2383-2385)AGA>AGT	p.R795S	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Missense_Mutation_p.R132S	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	795	Nebulin 23.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GAGTAAAGCCTCTCCCCTTTG	0.438													A	21101831	T	A	21101831	3	1	232	1	0	0	0	0	1	0	0	0	10303	1548	54	5	679	5	NEBL	10	21101831	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	13001268	21101831	114432916	46	117127											
PCDH15	65217	broad.mit.edu	37	chr10	55569247	55569247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatagttacaactacttcTtcctcctcactaggctctct	4	14	3	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr10:55569247T>C	uc010qhu.1	-	36	5008	c.4613A>G	c.(4612-4614)AAG>AGG	p.K1538R	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Silent_p.E1526E|PCDH15_uc010qht.1_Silent_p.E1519E	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-2 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CAACTACTTCTTCCTCCTCAC	0.383										HNSCC(58;0.16)			C	55569247	T	C	55569247	3	2	232	1	0	0	0	0	1	0	0	0	11511	1609	56	3	1353	3	PCDH15	10	55569247	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	34467416	55569247	79965500	47	117128											
ADAMTS14	140766	broad.mit.edu	37	chr10	72500888	72500888	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcaccagaatgccaagCacagctgggtgccctacgag	12	12	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr10:72500888C>A	uc001jrh.2	+	12	1894	c.1894C>A	c.(1894-1896)CAC>AAC	p.H632N	ADAMTS14_uc001jrg.2_Missense_Mutation_p.H635N|ADAMTS14_uc001jri.1_Missense_Mutation_p.H155N	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	632	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GAATGCCAAGCACAGCTGGGT	0.642													A	72500888	C	A	72500888	3	1	232	1	0	0	0	0	1	0	0	0	259	710	25	5	1949	5	ADAMTS14	10	72500888	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	16931641	72500888	63033859	48	117129											
SEC24C	9632	broad.mit.edu	37	chr10	75526139	75526139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagagtcagcaatccgcGttggctttgtcacctacaat	9	11	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr10:75526139G>A	uc001juw.2	+	13	1818	c.1639G>A	c.(1639-1641)GTT>ATT	p.V547I	SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Missense_Mutation_p.V405I|SEC24C_uc001jux.2_Missense_Mutation_p.V547I|SEC24C_uc010qko.1_Missense_Mutation_p.V428I|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	547					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			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					AGCAATCCGCGTTGGCTTTGT	0.498													A	75526139	G	A	75526139	3	1	232	1	0	0	0	0	1	0	0	0	13996	1145	40	1	1681	1	SEC24C	10	75526139	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	3025251	75526139	60008608	49	117130											
ZNF518A	9849	broad.mit.edu	37	chr10	97918089	97918089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagagaatcttcatccagCaaaacagttgtccaacaacc	5	12	2	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr10:97918089C>A	uc001klp.2	+	6	2867	c.2010C>A	c.(2008-2010)AGC>AGA	p.S670R	ZNF518A_uc001klo.1_Missense_Mutation_p.S140R|ZNF518A_uc001klq.2_Missense_Mutation_p.S670R|ZNF518A_uc001klr.2_Missense_Mutation_p.S670R	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CTTCATCCAGCAAAACAGTTG	0.353													A	97918089	C	A	97918089	3	1	232	1	0	0	0	0	1	0	0	0	17959	709	25	5	2012	5	ZNF518A	10	97918089	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	22391950	97918089	37616658	50	117131											
SPON1	10418	broad.mit.edu	37	chr11	14264896	14264896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgatgaggtcctcaccGtcatcaaagccaaagcccaa	9	12	3	3			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:14264896G>A	uc001mle.2	+	8	1382	c.844G>A	c.(844-846)GTC>ATC	p.V282I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	282	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		GGTCCTCACCGTCATCAAAGC	0.502													A	14264896	G	A	14264896	3	1	232	1	0	0	0	0	1	0	0	0	15081	1145	40	1	869	1	SPON1	11	14264896	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		14264896	120741620	51	117132											
MRGPRX4	117196	broad.mit.edu	37	chr11	18194989	18194989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgcaggaacgctgtctcCatctacatcctcaacctggc	8	15	3	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:18194989C>T	uc001mnv.1	+	1	606	c.186C>T	c.(184-186)TCC>TCT	p.S62S		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	62	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						ACGCTGTCTCCATCTACATCC	0.547													T	18194989	C	T	18194989	2	4	232	1	0	0	0	0	0	0	0	1	9769	581	21	4		4	MRGPRX4	11	18194989	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	3930093	18194989	116811527	52	117133											
TSG101	7251	broad.mit.edu	37	chr11	18505470	18505470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctggtgacccttttTcaggtcttcttctgttcgtt	8	10	5	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:18505470T>C	uc001mor.2	-	8	916	c.790A>G	c.(790-792)AAA>GAA	p.K264E		NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	264	Potential.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						TGACCCTTTTTCAGGTCTTCT	0.438													C	18505470	T	C	18505470	3	2	232	1	0	0	0	0	1	0	0	0	16613	1792	62	3	394	3	TSG101	11	18505470	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	310481	18505470	116501046	53	117134											
OR5AP2	338675	broad.mit.edu	37	chr11	56409733	56409733	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagaaatacatgggggtgtgGagacagagatcaatcttaat	12	4	2	3			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:56409733G>T	uc001njb.1	-	1	183	c.183C>A	c.(181-183)CTC>CTA	p.L61L		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TGGGGGTGTGGAGACAGAGAT	0.433													T	56409733	G	T	56409733	2	4	232	1	0	0	0	0	0	0	0	1	11144	1161	41	5		5	OR5AP2	11	56409733	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	37904263	56409733	78596783	54	117135											
KLC2	64837	broad.mit.edu	37	chr11	66026277	66026277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaagccattgagcttgGgctgggggaggcccaggtag	18	9	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:66026277G>A	uc010rov.1	+	2	455	c.212G>A	c.(211-213)GGG>GAG	p.G71E	KLC2_uc010row.1_Missense_Mutation_p.G71E|KLC2_uc009yra.2_Missense_Mutation_p.G71E|KLC2_uc001ohb.2_Missense_Mutation_p.G71E|KLC2_uc010rox.1_Missense_Mutation_p.G71E|KLC2_uc001ohc.2_Missense_Mutation_p.G71E|KLC2_uc001ohd.2_Missense_Mutation_p.G71E|KLC2_uc001ohe.1_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	71					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						ATTGAGCTTGGGCTGGGGGAG	0.632											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66026277	G	A	66026277	3	1	232	1	0	0	0	0	1	0	0	0	8334	1232	43	4	214	4	KLC2	11	66026277	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	9616544	66026277	68980239	55	117136											
TAF1D	79101	broad.mit.edu	37	chr11	93469428	93469428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttctaagtatacacTcagtcttacagggaattcag	6	10	6	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:93469428T>C	uc001ped.2	-	6	938	c.736A>G	c.(736-738)AGT>GGT	p.S246G	SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_Intron|SNORD5_uc009ywf.1_5'Flank|SNORA18_uc009ywg.1_5'Flank|MIR1304_hsa-mir-1304|MI0006371_5'Flank|SNORA40_uc009ywh.2_5'Flank	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						AAGTATACACTCAGTCTTACA	0.343													C	93469428	T	C	93469428	3	2	232	1	0	0	0	0	1	0	0	0	15519	1551	54	3	104	3	TAF1D	11	93469428	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	27443151	93469428	41537088	56	117137											
FAM55D	54827	broad.mit.edu	37	chr11	114441717	114441717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgactacatgttgaggtggGtgtacattatttgtgccata	11	7	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:114441717G>T	uc001ppc.2	-	6	1759	c.1578C>A	c.(1576-1578)CAC>CAA	p.H526Q	FAM55D_uc001ppd.2_Missense_Mutation_p.H242Q	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	526						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTTGAGGTGGGTGTACATTAT	0.279													T	114441717	G	T	114441717	3	4	232	1	0	0	0	0	1	0	0	0	5587	1252	44	5	60	5	FAM55D	11	114441717	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	20972289	114441717	20564799	57	117138											
KCNJ5	3762	broad.mit.edu	37	chr11	128786552	128786552	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgaggcagggctggatGcagaggctgagcagaatgaa	18	6	0	5			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr11:128786552G>T	uc001qet.2	+	3	1500	c.1186G>T	c.(1186-1188)GCA>TCA	p.A396S	KCNJ5_uc009zck.2_Missense_Mutation_p.A396S|KCNJ5_uc001qew.2_Missense_Mutation_p.A396S	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	396	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	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)	AGGGCTGGATGCAGAGGCTGA	0.652													T	128786552	G	T	128786552	3	4	232	1	0	0	0	0	1	0	0	0	8054	1319	46	5	1192	5	KCNJ5	11	128786552	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	14344835	128786552	6219964	58	117139											
STYK1	55359	broad.mit.edu	37	chr12	10772822	10772822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttcaggtaccaccaacTctggtacttgtaacacagcc	7	13	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr12:10772822T>C	uc001qys.2	-	11	1711	c.1190A>G	c.(1189-1191)GAG>GGG	p.E397G		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	397						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						TACCACCAACTCTGGTACTTG	0.537										HNSCC(73;0.22)			C	10772822	T	C	10772822	3	2	232	1	0	0	0	0	1	0	0	0	15358	1551	54	3	82	3	STYK1	12	10772822	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08		10772822	123079073	59	117140											
GPRC5A	9052	broad.mit.edu	37	chr12	13061792	13061792	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaccttctgtggttccttCacgggctggaagagacatgg	12	10	3	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr12:13061792C>T	uc001rba.2	+	2	1259	c.609C>T	c.(607-609)TTC>TTT	p.F203F	GPRC5A_uc001raz.2_Silent_p.F203F	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5,	203	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GTGGTTCCTTCACGGGCTGGA	0.557													T	13061792	C	T	13061792	2	4	232	1	0	0	0	0	0	0	0	1	6724	825	29	4		4	GPRC5A	12	13061792	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	2288970	13061792	120790103	60	117141											
ABCC9	10060	broad.mit.edu	37	chr12	22012551	22012551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtgttttgatacagcGctcgtgccacacagattctc	10	10	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr12:22012551G>A	uc001rfi.1	-	20	2494	c.2474C>T	c.(2473-2475)GCG>GTG	p.A825V	ABCC9_uc001rfh.2_Missense_Mutation_p.A825V|ABCC9_uc001rfj.1_Missense_Mutation_p.A789V	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	825	Cytoplasmic (Potential).|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	p.A825A(1)		ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATACAGCGCTCGTGCCAC	0.403													A	22012551	G	A	22012551	3	1	232	1	0	0	0	0	1	0	0	0	59	1087	38	1	2393	1	ABCC9	12	22012551	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	8950759	22012551	111839344	61	117142											
PTPRB	5787	broad.mit.edu	37	chr12	70956771	70956771	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctctcctggagattcccatCtgggttgtacaaaaagatgt	9	9	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr12:70956771C>T	uc001swb.3	-	14	3397	c.3367G>A	c.(3367-3369)GAT>AAT	p.D1123N	PTPRB_uc010sto.1_Missense_Mutation_p.D1033N|PTPRB_uc010stp.1_Missense_Mutation_p.D1033N|PTPRB_uc001swc.3_Missense_Mutation_p.D1341N|PTPRB_uc001swa.3_Missense_Mutation_p.D1253N|PTPRB_uc001swd.3_Missense_Mutation_p.D1340N|PTPRB_uc009zrr.1_Missense_Mutation_p.D1220N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1123	Fibronectin type-III 13.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			AGATTCCCATCTGGGTTGTAC	0.517													T	70956771	C	T	70956771	3	4	232	1	0	0	0	0	1	0	0	0	12796	913	32	4	2702	4	PTPRB	12	70956771	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	48944220	70956771	62895124	62	117143											
PTPRR	5801	broad.mit.edu	37	chr12	71054759	71054759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctcggccctgggaagcaAgtctgtcttcttctacatcc	9	15	4	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr12:71054759A>C	uc001swi.1	-	12	2143	c.1727T>G	c.(1726-1728)CTT>CGT	p.L576R	PTPRR_uc001swf.1_RNA|PTPRR_uc001swg.1_RNA|PTPRR_uc001swh.1_Missense_Mutation_p.L331R|PTPRR_uc009zrs.2_Missense_Mutation_p.L425R|PTPRR_uc010stq.1_Missense_Mutation_p.L464R|PTPRR_uc010str.1_3'UTR	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	576	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				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			skin(2)|ovary(1)	3			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)		CTGGGAAGCAAGTCTGTCTTC	0.522													C	71054759	A	C	71054759	3	2	232	1	0	0	0	0	1	0	0	0	12810	72	3	5	258	5	PTPRR	12	71054759	Missense_Mutation	SNP	A	TCGA-EQ-5647-01A-01D-1600-08	97988	71054759	62797136	63	117144											
HIP1R	9026	broad.mit.edu	37	chr12	123342783	123342783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccctgcacctgcgctgTaccagctccccaggtagaca	9	18	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr12:123342783T>C	uc001udj.1	+	19	2009	c.1950T>C	c.(1948-1950)TGT>TGC	p.C650C	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	650					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	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)		ACCTGCGCTGTACCAGCTCCC	0.692													C	123342783	T	C	123342783	2	2	232	1	0	0	0	0	0	0	0	1	7115	1644	57	3		3	HIP1R	12	123342783	Silent	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	52288024	123342783	10509112	64	117145											
PAN3	255967	broad.mit.edu	37	chr13	28830630	28830630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaactgttggtgggaCgacttacttctatacagaca	10	7	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr13:28830630C>T	uc001urz.2	+	6	772	c.764C>T	c.(763-765)ACG>ATG	p.T255M	PAN3_uc010tdo.1_Missense_Mutation_p.T401M|PAN3_uc001ury.2_Missense_Mutation_p.T89M|PAN3_uc001urx.2_Missense_Mutation_p.T201M	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	401	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			ovary(1)	1	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)		GTTGGTGGGACGACTTACTTC	0.418													T	28830630	C	T	28830630	3	4	232	1	0	0	0	0	1	0	0	0	11415	536	19	1	1228	1	PAN3	13	28830630	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		28830630	86339248	65	117146											
LIG4	3981	broad.mit.edu	37	chr13	108861879	108861879	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctcttatcttttcaattcGtggaaaacgcaaggtgcagc	8	9	3	0	rs104894418		TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr13:108861879G>C	uc001vqn.2	-	2	2011	c.1738C>G	c.(1738-1740)CGA>GGA	p.R580G	LIG4_uc001vqo.2_Missense_Mutation_p.R580G|LIG4_uc010agg.1_Missense_Mutation_p.R513G|LIG4_uc010agf.2_Missense_Mutation_p.R580G|LIG4_uc001vqp.2_Missense_Mutation_p.R580G	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	580					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				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCAATTCGTGGAAAACGC	0.433								NHEJ					C	108861879	G	C	108861879	3	2	232	1	0	0	0	0	1	0	0	0	8783	1153	40	5	1001	5	LIG4	13	108861879	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	80031249	108861879	6307999	66	117147											
ADCY4	196883	broad.mit.edu	37	chr14	24798345	24798345	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgcgccccaggactcCaggtaacgggtcatcagcag	13	13	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr14:24798345C>A	uc001wov.2	-	10	1452	c.1446G>T	c.(1444-1446)CTG>CTT	p.L482L	ADCY4_uc001wow.2_Silent_p.L482L|ADCY4_uc010toh.1_Silent_p.L168L|ADCY4_uc001wox.2_Silent_p.L482L|ADCY4_uc001woy.2_Silent_p.L482L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	482	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CCCAGGACTCCAGGTAACGGG	0.622													A	24798345	C	A	24798345	2	1	232	1	0	0	0	0	0	0	0	1	296	581	21	5		5	ADCY4	14	24798345	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		24798345	82551195	67	117148											
LGMN	5641	broad.mit.edu	37	chr14	93178266	93178266	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagtaacaggcgtaggaCgactctctggggttggcagc	14	9	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr14:93178266C>A	uc001yav.2	-	10	971	c.645G>T	c.(643-645)TCG>TCT	p.S215S	LGMN_uc001yat.2_Silent_p.S215S|LGMN_uc001yau.2_Silent_p.S215S|LGMN_uc001yaw.2_Silent_p.S215S|LGMN_uc010aul.2_Silent_p.S96S|LGMN_uc001yax.2_Silent_p.S215S|LGMN_uc001yay.2_Silent_p.S215S	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	215					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		AGGCGTAGGACGACTCTCTGG	0.488													A	93178266	C	A	93178266	2	1	232	1	0	0	0	0	0	0	0	1	8755	523	19	5		5	LGMN	14	93178266	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	68379921	93178266	14171274	68	117149											
ITPK1	3705	broad.mit.edu	37	chr14	93483134	93483134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctcctcgatcggccGgctaaggttcagctgtgagg	14	13	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr14:93483134G>A	uc001ybg.2	-	4	422	c.133C>T	c.(133-135)CGG>TGG	p.R45W	ITPK1_uc001ybe.2_Missense_Mutation_p.R45W|ITPK1_uc001ybf.2_5'UTR|ITPK1_uc001ybh.2_Missense_Mutation_p.R45W	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	45					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				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCGATCGGCCGGCTAAGGTTC	0.577													A	93483134	G	A	93483134	3	1	232	1	0	0	0	0	1	0	0	0	7916	1115	39	1	1191	1	ITPK1	14	93483134	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	304868	93483134	13866406	69	117150											
IL16	3603	broad.mit.edu	37	chr15	81565490	81565490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggccccattgggatttaCgtcaaaaccatttttgcagg	9	9	1	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr15:81565490C>T	uc002bgh.3	+	6	1111	c.735C>T	c.(733-735)TAC>TAT	p.Y245Y	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.Y245Y|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.Y287Y|IL16_uc002bgg.2_Silent_p.Y245Y	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	245	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TTGGGATTTACGTCAAAACCA	0.507													T	81565490	C	T	81565490	2	4	232	1	0	0	0	0	0	0	0	1	7633	547	19	1		1	IL16	15	81565490	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		81565490	20965902	70	117151											
GRIN2A	2903	broad.mit.edu	37	chr16	9857896	9857896	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcattatgcaaggggttccGgttcattggcagcgtggagt	14	7	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr16:9857896G>T	uc002czo.3	-	13	4053	c.3505C>A	c.(3505-3507)CGG>AGG	p.R1169R	GRIN2A_uc010uym.1_Silent_p.R1169R|GRIN2A_uc010uyn.1_Silent_p.R1012R|GRIN2A_uc002czr.3_Silent_p.R1169R	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1169	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGGGTTCCGGTTCATTGGC	0.532													T	9857896	G	T	9857896	2	4	232	1	0	0	0	0	0	0	0	1	6779	1115	39	5		5	GRIN2A	16	9857896	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		9857896	80496857	71	117152											
SLC12A4	6560	broad.mit.edu	37	chr16	67984928	67984928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatagacttctgggcgtcacGaaggtccccagagcggtttg	14	10	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr16:67984928G>A	uc002euz.2	-	10	1474	c.1333C>T	c.(1333-1335)CGT>TGT	p.R445C	SLC12A4_uc010ceu.2_Missense_Mutation_p.R439C|SLC12A4_uc010vkh.1_Missense_Mutation_p.R414C|SLC12A4_uc010vki.1_Missense_Mutation_p.R445C|SLC12A4_uc010vkj.1_Missense_Mutation_p.R447C|SLC12A4_uc002eva.2_Missense_Mutation_p.R445C|SLC12A4_uc002evb.2_Intron	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	445					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		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)	TGGGCGTCACGAAGGTCCCCA	0.607													A	67984928	G	A	67984928	3	1	232	1	0	0	0	0	1	0	0	0	14385	1058	37	1	1984	1	SLC12A4	16	67984928	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	58127032	67984928	22369825	72	117153											
ADAT1	23536	broad.mit.edu	37	chr16	75642762	75642762	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccccacaaggaacaagtcGacctgggctatcagcccttt	9	14	1	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr16:75642762G>A	uc002feo.1	-	8	1270	c.1168C>T	c.(1168-1170)CGA>TGA	p.R390*	ADAT1_uc002fep.1_Nonsense_Mutation_p.R241*	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	390	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						GGAACAAGTCGACCTGGGCTA	0.527													A	75642762	G	A	75642762	4	1	232	1	0	0	0	0	0	1	0	0	284	1066	37	1	356	1	ADAT1	16	75642762	Nonsense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	7657834	75642762	14711991	73	117154											
MYH1	4619	broad.mit.edu	37	chr17	10415837	10415837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggacactctttcatctgaAgtaaagcccagaatttcaat	6	9	4	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr17:10415837A>G	uc002gmo.2	-	12	1129	c.1035T>C	c.(1033-1035)ACT>ACC	p.T345T	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	345	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TTTCATCTGAAGTAAAGCCCA	0.413													G	10415837	A	G	10415837	2	3	232	1	0	0	0	0	0	0	0	1	10029	59	3	3		3	MYH1	17	10415837	Silent	SNP	A	TCGA-EQ-5647-01A-01D-1600-08		10415837	70779373	74	117155											
MYH3	4621	broad.mit.edu	37	chr17	10538727	10538727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgctggatggcgtccgtctCgtatttggttctccactggg	14	11	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr17:10538727C>T	uc002gmq.1	-	29	4206	c.4129G>A	c.(4129-4131)GAG>AAG	p.E1377K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1377	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GCGTCCGTCTCGTATTTGGTT	0.527													T	10538727	C	T	10538727	3	4	232	1	0	0	0	0	1	0	0	0	10036	893	31	1	1741	1	MYH3	17	10538727	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	122890	10538727	70656483	75	117156											
C17orf70	80233	broad.mit.edu	37	chr17	79517825	79517825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgcaggagggtggcaTcagctccaaagaggagcccg	16	10	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr17:79517825T>G	uc002kaq.2	-	3	750	c.695A>C	c.(694-696)GAT>GCT	p.D232A	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.D81A	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	232					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAGGGTGGCATCAGCTCCAAA	0.652													G	79517825	T	G	79517825	3	3	232	1	0	0	0	0	1	0	0	0	1877	1435	50	5	1978	5	C17orf70	17	79517825	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	68979098	79517825	1677385	76	117157											
CETN1	1068	broad.mit.edu	37	chr18	580882	580882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggggacggcgaagtgaaCgaggaggagttccttcggat	18	6	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr18:580882C>T	uc002kko.1	+	1	516	c.474C>T	c.(472-474)AAC>AAT	p.N158N		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	158	2 (Probable).|EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCGAAGTGAACGAGGAGGAGT	0.537													T	580882	C	T	580882	2	4	232	1	0	0	0	0	0	0	0	1	3274	535	19	1		1	CETN1	18	580882	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		580882	77496366	77	117158											
DCC	1630	broad.mit.edu	37	chr18	50589747	50589747	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatattgagtttgaatgtaCagtctctggaaagcctgtgc	12	6	1	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr18:50589747C>A	uc002lfe.1	+	6	1645	c.1058C>A	c.(1057-1059)ACA>AAA	p.T353K	DCC_uc010xdr.1_Missense_Mutation_p.T201K|DCC_uc010dpf.1_Missense_Mutation_p.T8K	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	353	Extracellular (Potential).|Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTGAATGTACAGTCTCTGGA	0.373													A	50589747	C	A	50589747	3	1	232	1	0	0	0	0	1	0	0	0	4282	478	17	5	1080	5	DCC	18	50589747	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	50008865	50589747	27487501	78	117159											
ICAM4	3386	broad.mit.edu	37	chr19	10398284	10398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgcgctgccacgtgaCgcaggtgttcccggtgggct	14	13	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr19:10398284C>T	uc002mns.1	+	2	506	c.467C>T	c.(466-468)ACG>ATG	p.T156M	ICAM4_uc002mnr.1_Intron|ICAM4_uc002mnt.1_Missense_Mutation_p.T156M|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	156	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCCACGTGACGCAGGTGTTC	0.602													T	10398284	C	T	10398284	3	4	232	1	0	0	0	0	1	0	0	0	7482	536	19	1	473	1	ICAM4	19	10398284	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		10398284	48730699	79	117160											
ZNF676	163223	broad.mit.edu	37	chr19	22364289	22364289	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taatttttaagtgtaaattcTcatgtccacatttgtcatat	4	6	2	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr19:22364289T>A	uc002nqs.1	-	3	548	c.230A>T	c.(229-231)GAG>GTG	p.E77V		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGTAAATTCTCATGTCCACA	0.338													A	22364289	T	A	22364289	3	1	232	1	0	0	0	0	1	0	0	0	18080	1551	54	5	1540	5	ZNF676	19	22364289	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	11966005	22364289	36764694	80	117161											
L3MBTL	26013	broad.mit.edu	37	chr20	42168807	42168807	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagccctcacgcccgatgtCgtgcaccagtccctcttcat	7	19	3	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:42168807C>T	uc010zwh.1	+	20	2170	c.2124C>T	c.(2122-2124)GTC>GTT	p.V708V	L3MBTL_uc002xkl.2_Silent_p.V640V|L3MBTL_uc002xkm.2_Silent_p.V640V|L3MBTL_uc010ggl.2_Silent_p.V645V|L3MBTL_uc002xkn.1_Silent_p.V399V|L3MBTL_uc002xko.2_Silent_p.V292V|L3MBTL_uc002xkp.2_Silent_p.V28V|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	640					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGCCCGATGTCGTGCACCAGT	0.617													T	42168807	C	T	42168807	2	4	232	1	0	0	0	0	0	0	0	1	8591	871	31	1		1	L3MBTL	20	42168807	Silent	SNP	C	TCGA-EQ-5647-01A-01D-1600-08		42168807	20856713	81	117162											
TSHZ2	128553	broad.mit.edu	37	chr20	51871800	51871800	+	Silent	SNP	G	G	A													gccccttacactcaagtcaaGaaagagtcagaagacaaaga							TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51871800G>A	uc002xwo.2	+	2	2759	c.1803G>A	c.(1801-1803)AAG>AAA	p.K601K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	601					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CTCAAGTCAAGAAAGAGTCAG	0.512													A	51871800	G	A	51871800	2	1	232	1	0	0	0	0	0	0	0	1	16621	933	33	4		4	TSHZ2	20	51871800	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	9702993	51871800	11153720	82	117163	560	3	1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51871810	51871810	+	Missense_Mutation	SNP	G	G	A													ctcaagtcaagaaagagtcaGaagacaaagatgaagcggtg							TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51871810G>A	uc002xwo.2	+	2	2769	c.1813G>A	c.(1813-1815)GAA>AAA	p.E605K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	605					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GAAAGAGTCAGAAGACAAAGA	0.507													A	51871810	G	A	51871810	3	1	232	1	0	0	0	0	1	0	0	0	16621	943	33	4	1819	4	TSHZ2	20	51871810	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	10	51871810	11153710	83	117164	560	3	1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51871813	51871813	+	Missense_Mutation	SNP	G	G	A													aagtcaagaaagagtcagaaGacaaagatgaagcggtgaag							TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51871813G>A	uc002xwo.2	+	2	2772	c.1816G>A	c.(1816-1818)GAC>AAC	p.D606N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	606					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTCAGAAGACAAAGATGA	0.502													A	51871813	G	A	51871813	3	1	232	1	0	0	0	0	1	0	0	0	16621	942	33	4	1822	4	TSHZ2	20	51871813	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	3	51871813	11153707	84	117165	560	3	1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51871968	51871968	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgaaggaggaggagaagctGatgaaagagggcagcgagaa	18	4	0	6			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51871968G>A	uc002xwo.2	+	2	2927	c.1971G>A	c.(1969-1971)CTG>CTA	p.L657L		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	657					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGGAGAAGCTGATGAAAGAGG	0.592													A	51871968	G	A	51871968	2	1	232	1	0	0	0	0	0	0	0	1	16621	1277	45	4		4	TSHZ2	20	51871968	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	155	51871968	11153552	85	117166			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872223	51872223	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcatggacaagccggtcttGagtcctgcctccacaaggtc	11	13	2	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872223G>A	uc002xwo.2	+	2	3182	c.2226G>A	c.(2224-2226)TTG>TTA	p.L742L		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	742					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGCCGGTCTTGAGTCCTGCCT	0.547													A	51872223	G	A	51872223	2	1	232	1	0	0	0	0	0	0	0	1	16621	1281	45	4		4	TSHZ2	20	51872223	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	255	51872223	11153297	86	117167			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872482	51872482	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatggatgtcaggcgctttGaggatgtctccagtgaagtc	13	7	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872482G>A	uc002xwo.2	+	2	3441	c.2485G>A	c.(2485-2487)GAG>AAG	p.E829K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	829					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CAGGCGCTTTGAGGATGTCTC	0.542													A	51872482	G	A	51872482	3	1	232	1	0	0	0	0	1	0	0	0	16621	1291	45	4	2491	4	TSHZ2	20	51872482	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	259	51872482	11153038	87	117168			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872676	51872676	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtttacgggactctcaatGaccactatcagtcactggct	8	11	3	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872676G>A	uc002xwo.2	+	2	3635	c.2679G>A	c.(2677-2679)ATG>ATA	p.M893I		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	893	Homeobox; atypical.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GACTCTCAATGACCACTATCA	0.493													A	51872676	G	A	51872676	3	1	232	1	0	0	0	0	1	0	0	0	16621	1290	45	4	2685	4	TSHZ2	20	51872676	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	194	51872676	11152844	88	117169			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872755	51872755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaatttctgaaaaacatgGacaaaggccaccccatcttt	5	11	2	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872755G>A	uc002xwo.2	+	2	3714	c.2758G>A	c.(2758-2760)GAC>AAC	p.D920N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	920					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GAAAAACATGGACAAAGGCCA	0.468													A	51872755	G	A	51872755	3	1	232	1	0	0	0	0	1	0	0	0	16621	1174	41	4	2764	4	TSHZ2	20	51872755	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	79	51872755	11152765	89	117170			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872804	51872804	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgactgtgcctcccagttcaGaaccccttctacctacatca	5	16	3	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872804G>A	uc002xwo.2	+	2	3763	c.2807G>A	c.(2806-2808)AGA>AAA	p.R936K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	936	C2H2-type 4.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			TCCCAGTTCAGAACCCCTTCT	0.483													A	51872804	G	A	51872804	3	1	232	1	0	0	0	0	1	0	0	0	16621	942	33	4	2813	4	TSHZ2	20	51872804	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	49	51872804	11152716	90	117171			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872833	51872833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacctacatcagtcacttaGaatctcacctgggtttccaa	5	13	3	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872833G>A	uc002xwo.2	+	2	3792	c.2836G>A	c.(2836-2838)GAA>AAA	p.E946K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	946	C2H2-type 4.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CAGTCACTTAGAATCTCACCT	0.493													A	51872833	G	A	51872833	3	1	232	1	0	0	0	0	1	0	0	0	16621	943	33	4	2842	4	TSHZ2	20	51872833	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	29	51872833	11152687	91	117172			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872931	51872931	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccgggtatcgtcggctcaGaggtctccagaaacaatagc	11	12	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872931G>A	uc002xwo.2	+	2	3890	c.2934G>A	c.(2932-2934)CAG>CAA	p.Q978Q		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	978					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CGTCGGCTCAGAGGTCTCCAG	0.493													A	51872931	G	A	51872931	2	1	232	1	0	0	0	0	0	0	0	1	16621	933	33	4		4	TSHZ2	20	51872931	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	98	51872931	11152589	92	117173			1	55		12	10	1169	N	G	4.126098e-28
TSHZ2	128553	broad.mit.edu	37	chr20	51872968	51872968	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagctgccgaagaggacacaGactctaaattcaagtgtaag	10	8	2	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chr20:51872968G>A	uc002xwo.2	+	2	3927	c.2971G>A	c.(2971-2973)GAC>AAC	p.D991N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	991					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGAGGACACAGACTCTAAATT	0.507													A	51872968	G	A	51872968	3	1	232	1	0	0	0	0	1	0	0	0	16621	942	33	4	2977	4	TSHZ2	20	51872968	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	37	51872968	11152552	93	117174			1	55		12	10	1169	N	G	4.126098e-28
MAP7D2	256714	broad.mit.edu	37	chrX	20081624	20081624	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccagttttcgccatcGctcctccatttgcttttcgt	5	15	1	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:20081624G>A	uc004czr.1	-	3	299	c.280C>T	c.(280-282)CGA>TGA	p.R94*	MAP7D2_uc011mji.1_Nonsense_Mutation_p.R50*|MAP7D2_uc010nfo.1_Nonsense_Mutation_p.R94*|MAP7D2_uc011mjj.1_Nonsense_Mutation_p.R94*|MAP7D2_uc004czs.1_Nonsense_Mutation_p.R50*	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	94	Potential.									ovary(2)|breast(1)	3						TTTCGCCATCGCTCCTCCATT	0.547													A	20081624	G	A	20081624	4	1	232	1	0	0	0	0	0	1	0	0	9268	1095	38	1	2097	1	MAP7D2	23	20081624	Nonsense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08		20081624	135188936	94	117175											
CHST7	56548	broad.mit.edu	37	chrX	46433894	46433894	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgcgccgccgggggaCcccgctgcgcgcgccccgga	16	19	0	0			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:46433894C>G	uc004dgt.2	+	1	703	c.528C>G	c.(526-528)GAC>GAG	p.D176E		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	176	Lumenal (Potential).				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)	3						cgccgggggaccccgctgcgc	0.552													G	46433894	C	G	46433894	3	3	232	1	0	0	0	0	1	0	0	0	3409	506	18	5	530	5	CHST7	23	46433894	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	26352270	46433894	108836666	95	117176											
TEX11	56159	broad.mit.edu	37	chrX	69772062	69772062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacattcgacgccccatctgGcactgagaggttaaccaagt	9	12	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:69772062G>A	uc004dyl.2	-	29	2641	c.2479C>T	c.(2479-2481)CCA>TCA	p.P827S	TEX11_uc004dyk.2_Missense_Mutation_p.P502S|TEX11_uc004dym.2_Missense_Mutation_p.P812S	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	827							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					GCCCCATCTGGCACTGAGAGG	0.428													A	69772062	G	A	69772062	3	1	232	1	0	0	0	0	1	0	0	0	15771	1203	42	2	355	2	TEX11	23	69772062	Missense_Mutation	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	23338168	69772062	85498498	96	117177											
KIAA2022	340533	broad.mit.edu	37	chrX	73960857	73960857	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccactcttgctgggtgaacTtttctttcttgattttgaca	7	10	3	3			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:73960857T>G	uc004eby.2	-	3	4152	c.3535A>C	c.(3535-3537)AGT>CGT	p.S1179R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1179					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CTGGGTGAACTTTTCTTTCTT	0.408													G	73960857	T	G	73960857	3	3	232	1	0	0	0	0	1	0	0	0	8269	1609	56	5	1023	5	KIAA2022	23	73960857	Missense_Mutation	SNP	T	TCGA-EQ-5647-01A-01D-1600-08	4188795	73960857	81309703	97	117178											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667850	100667850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacagggcactgtgtaCacatgagggggttaccttac	12	11	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:100667850C>A	uc004ehm.2	+	2	1044	c.874C>A	c.(874-876)CAC>AAC	p.H292N	HNRNPH2_uc004ehn.2_Missense_Mutation_p.H292N	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	292	RRM 3.|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				0						GCACTGTGTACACATGAGGGG	0.428													A	100667850	C	A	100667850	3	1	232	1	0	0	0	0	1	0	0	0	7267	478	17	5	876	5	HNRNPH2	23	100667850	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	26706993	100667850	54602710	98	117179											
IL13RA2	3598	broad.mit.edu	37	chrX	114239785	114239785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtaggtgtttggcttaCgcaaaagcagaccggttaca	13	7	0	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:114239785C>T	uc004epx.2	-	9	1216	c.1091G>A	c.(1090-1092)CGT>CAT	p.R364H	IL13RA2_uc010nqd.1_Missense_Mutation_p.R364H	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	364	Cytoplasmic (Potential).					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						GTTTGGCTTACGCAAAAGCAG	0.363													T	114239785	C	T	114239785	3	4	232	1	0	0	0	0	1	0	0	0	7630	536	19	1	59	1	IL13RA2	23	114239785	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	13571935	114239785	41030775	99	117180											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685810	125685810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgcaccttgcggttaCtggggttgatgatggccctg	16	11	0	2			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:125685810C>A	uc004eul.2	-	1	1033	c.782G>T	c.(781-783)AGT>ATT	p.S261I		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	261	WD 3.									skin(3)|ovary(1)	4						CTTGCGGTTACTGGGGTTGAT	0.637													A	125685810	C	A	125685810	3	1	232	1	0	0	0	0	1	0	0	0	4264	565	20	5	613	5	DCAF12L1	23	125685810	Missense_Mutation	SNP	C	TCGA-EQ-5647-01A-01D-1600-08	11446025	125685810	29584750	100	117181											
CD40LG	959	broad.mit.edu	37	chrX	135736558	135736558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgttaaacaaagaggagacGaagaaagaaaacagctttga	10	4	0	5			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:135736558G>A	uc004faa.2	+	3	387	c.315G>A	c.(313-315)ACG>ACA	p.T105T	CD40LG_uc010nsd.2_Silent_p.T105T|CD40LG_uc010nse.1_Intron	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	105	Extracellular (Potential).				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			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	AAGAGGAGACGAAGAAAGAAA	0.338									Immune_Deficiency_with_Hyper-IgM				A	135736558	G	A	135736558	2	1	232	1	0	0	0	0	0	0	0	1	3016	1045	37	1		1	CD40LG	23	135736558	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	10050748	135736558	19534002	101	117182											
SLITRK2	84631	broad.mit.edu	37	chrX	144905755	144905755	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacctcggtcgcttagtgtGtctcctagttcctatcctga	8	13	1	1			TCGA-EQ-5647-01A-01D-1600-08	TCGA-EQ-5647-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feccee20-a62d-4152-b832-b9fdaca87a61	96da0697-64a5-4ec6-89be-40dbaafc65bc	g.chrX:144905755G>T	uc004fcd.2	+	5	2802	c.1812G>T	c.(1810-1812)GTG>GTT	p.V604V	SLITRK2_uc010nsp.2_Silent_p.V604V|SLITRK2_uc010nso.2_Silent_p.V604V|SLITRK2_uc011mwq.1_Silent_p.V604V|SLITRK2_uc011mwr.1_Silent_p.V604V|SLITRK2_uc011mws.1_Silent_p.V604V|SLITRK2_uc004fcg.2_Silent_p.V604V|SLITRK2_uc011mwt.1_Silent_p.V604V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	604	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTAGTGTGTCTCCTAGTT	0.463													T	144905755	G	T	144905755	2	4	232	1	0	0	0	0	0	0	0	1	14743	1364	48	5		5	SLITRK2	23	144905755	Silent	SNP	G	TCGA-EQ-5647-01A-01D-1600-08	9169197	144905755	10364805	102	117183											
AGRN	375790	broad.mit.edu	37	chr1	981547	981547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgccccaggtctgtgGgtcagatggagtcacatacg	12	11	4	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:981547G>A	uc001ack.1	+	17	2863	c.2813G>A	c.(2812-2814)GGG>GAG	p.G938E		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	938	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			central_nervous_system(2)|breast(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;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)		CAGGTCTGTGGGTCAGATGGA	0.612													A	981547	G	A	981547	3	1	233	1	0	0	0	0	1	0	0	0	397	1232	43	4	2879	4	AGRN	1	981547	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		981547	248269074	1	117184											
RPL22	6146	broad.mit.edu	37	chr1	6257728	6257728	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaattggcagcatccAtgattccatcttctacaggg	7	10	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:6257728A>C	uc001amd.2	-	2	147	c.101T>G	c.(100-102)ATG>AGG	p.M34R	RPL22_uc001ame.2_Missense_Mutation_p.M34R	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	34					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-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;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGCAGCATCCATGATTCCATC	0.413			T	RUNX1	AML|CML								C	6257728	A	C	6257728	3	2	233	1	0	0	0	0	1	0	0	0	13568	217	8	5	297	5	RPL22	1	6257728	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	5276181	6257728	242992893	2	117185											
MFN2	9927	broad.mit.edu	37	chr1	12065913	12065913	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgagttccatttctctctCggatggaccatgctggtgaa	10	9	2	2	rs140924661	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:12065913C>T	uc001atn.3	+	15	2094	c.1641C>T	c.(1639-1641)CTC>CTT	p.L547L	MFN2_uc009vni.2_Silent_p.L547L	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	547	Cytoplasmic (Potential).				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			ovary(1)	1	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)		ATTTCTCTCTCGGATGGACCA	0.532													T	12065913	C	T	12065913	2	4	233	1	0	0	0	0	0	0	0	1	9524	871	31	1		1	MFN2	1	12065913	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	5808185	12065913	237184708	3	117186											
ALPL	249	broad.mit.edu	37	chr1	21903107	21903107	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtggtgggcggtgaaCgagagaatgtctccatggtg	17	6	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:21903107C>T	uc001bet.2	+	11	1539	c.1282C>T	c.(1282-1284)CGA>TGA	p.R428*	ALPL_uc010odn.1_Nonsense_Mutation_p.R376*|ALPL_uc010odo.1_Nonsense_Mutation_p.R373*|ALPL_uc010odp.1_Nonsense_Mutation_p.R351*|ALPL_uc001beu.3_Nonsense_Mutation_p.R428*	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	428					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGGCGGTGAACGAGAGAATGT	0.607													T	21903107	C	T	21903107	4	4	233	1	0	0	0	0	0	1	0	0	547	528	19	1	1320	1	ALPL	1	21903107	Nonsense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	9837194	21903107	227347514	4	117187											
SMAP2	64744	broad.mit.edu	37	chr1	40872476	40872476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgctggaatccacaggaatCtgggggtgcacatatccagg	14	9	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:40872476C>A	uc001cfj.2	+	2	237	c.172C>A	c.(172-174)CTG>ATG	p.L58M	SMAP2_uc010ojh.1_Missense_Mutation_p.L58M|SMAP2_uc001cfk.2_Missense_Mutation_p.L28M|SMAP2_uc010oji.1_Translation_Start_Site	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	58	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|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;1.04e-17)			CCACAGGAATCTGGGGGTGCA	0.498													A	40872476	C	A	40872476	3	1	233	1	0	0	0	0	1	0	0	0	14767	912	32	5	178	5	SMAP2	1	40872476	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	18969369	40872476	208378145	5	117188											
NSUN4	387338	broad.mit.edu	37	chr1	46827504	46827504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtacttctgcaaaatgCgtaggctgacatagtatcac	8	10	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:46827504C>T	uc001cpr.1	+	6	1250	c.1141C>T	c.(1141-1143)CGT>TGT	p.R381C	NSUN4_uc010omc.1_Missense_Mutation_p.R332C|NSUN4_uc009vyf.1_Missense_Mutation_p.R230C|NSUN4_uc009vyg.1_Missense_Mutation_p.R332C|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	NOL1/NOP2/Sun domain family 4 protein	381							methyltransferase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTGCAAAATGCGTAGGCTGAC	0.458													T	46827504	C	T	46827504	3	4	233	1	0	0	0	0	1	0	0	0	10680	768	27	1	1163	1	NSUN4	1	46827504	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	5955028	46827504	202423117	6	117189											
LRRC7	57554	broad.mit.edu	37	chr1	70488840	70488840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagccccctgggaaagggGccagcgtgggattactctcc	13	14	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:70488840G>T	uc001dep.2	+	15	1493	c.1463G>T	c.(1462-1464)GGC>GTC	p.G488V	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	488						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TGGGAAAGGGGCCAGCGTGGG	0.542													T	70488840	G	T	70488840	3	4	233	1	0	0	0	0	1	0	0	0	9020	1203	42	5	1521	5	LRRC7	1	70488840	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	23661336	70488840	178761781	7	117190											
TTLL7	79739	broad.mit.edu	37	chr1	84348736	84348736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaggcactgtttacaaAgctccactaggcgctggcaa	10	12	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:84348736A>G	uc001djc.2	-	20	2849	c.2453T>C	c.(2452-2454)CTT>CCT	p.L818P	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	818					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTGTTTACAAAGCTCCACTAG	0.473													G	84348736	A	G	84348736	3	3	233	1	0	0	0	0	1	0	0	0	16729	72	3	3	218	3	TTLL7	1	84348736	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	13859896	84348736	164901885	8	117191											
DBT	1629	broad.mit.edu	37	chr1	100696418	100696418	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacagaagctttatcactttGaacttcacagatgctatcaa	5	9	3	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:100696418G>T	uc001dta.2	-	4	337	c.304C>A	c.(304-306)CAA>AAA	p.Q102K	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	102	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTATCACTTTGAACTTCACAG	0.343													T	100696418	G	T	100696418	3	4	233	1	0	0	0	0	1	0	0	0	4258	1299	45	5	1176	5	DBT	1	100696418	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	16347682	100696418	148554203	9	117192											
COL11A1	1301	broad.mit.edu	37	chr1	103348865	103348865	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttaggatcaatccaatattCacctagaaggtagcaaaaaa	7	7	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:103348865C>T	uc001dul.2	-	64	5179	c.4861G>A	c.(4861-4863)GAA>AAA	p.E1621K	COL11A1_uc001duk.2_Missense_Mutation_p.E817K|COL11A1_uc001dum.2_Missense_Mutation_p.E1633K|COL11A1_uc001dun.2_Missense_Mutation_p.E1582K|COL11A1_uc009weh.2_Missense_Mutation_p.E1505K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1621	Fibrillar collagen NC1.				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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		ATCCAATATTCACCTAGAAGG	0.318													T	103348865	C	T	103348865	3	4	233	1	0	0	0	0	1	0	0	0	3667	835	29	4	575	4	COL11A1	1	103348865	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2652447	103348865	145901756	10	117193											
COL11A1	1301	broad.mit.edu	37	chr1	103480076	103480076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcttacccgagcctgCtgaagaatagcttgagcctg	10	12	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:103480076C>A	uc001dul.2	-	13	1881	c.1563G>T	c.(1561-1563)CAG>CAT	p.Q521H	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.Q533H|COL11A1_uc001dun.2_Missense_Mutation_p.Q482H|COL11A1_uc009weh.2_Missense_Mutation_p.Q405H	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	521	Telopeptide.				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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CCCGAGCCTGCTGAAGAATAG	0.418													A	103480076	C	A	103480076	3	1	233	1	0	0	0	0	1	0	0	0	3667	796	28	5	4077	5	COL11A1	1	103480076	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	131211	103480076	145770545	11	117194											
SLC22A15	55356	broad.mit.edu	37	chr1	116534717	116534717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccatcctaccactgggaCctggcagagctcctgccaaa	9	16	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:116534717C>T	uc001egb.3	+	2	283	c.153C>T	c.(151-153)GAC>GAT	p.D51D	SLC22A15_uc001ega.2_Silent_p.D51D	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	51					ion transport	integral to membrane	transmembrane transporter activity			large_intestine(2)	2	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)		ACCACTGGGACCTGGCAGAGC	0.587													T	116534717	C	T	116534717	2	4	233	1	0	0	0	0	0	0	0	1	14446	506	18	4		4	SLC22A15	1	116534717	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	13054641	116534717	132715904	12	117195											
PHGDH	26227	broad.mit.edu	37	chr1	120278013	120278013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacgaaggcgccctgctcCgggccctgcagtctggccag	15	15	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:120278013C>T	uc001ehz.2	+	7	966	c.739C>T	c.(739-741)CGG>TGG	p.R247W	PHGDH_uc009whm.2_Missense_Mutation_p.R145W|PHGDH_uc001eia.2_Missense_Mutation_p.R247W|PHGDH_uc009whn.2_Missense_Mutation_p.R247W|PHGDH_uc001eib.2_Missense_Mutation_p.R213W	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	247					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	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)	CGCCCTGCTCCGGGCCCTGCA	0.627													T	120278013	C	T	120278013	3	4	233	1	0	0	0	0	1	0	0	0	11841	643	23	1	765	1	PHGDH	1	120278013	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	3743296	120278013	128972608	13	117196											
TUFT1	7286	broad.mit.edu	37	chr1	151536460	151536460	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagtgaggtccagtacatCcaggaggtgggcacccctta	13	10	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:151536460C>T	uc001eyl.2	+	4	380	c.318C>T	c.(316-318)ATC>ATT	p.I106I	TUFT1_uc001eym.2_Silent_p.I81I|TUFT1_uc010pdf.1_Silent_p.I125I|TUFT1_uc010pdg.1_Silent_p.I54I	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	106	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	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)			TCCAGTACATCCAGGAGGTGG	0.443													T	151536460	C	T	151536460	2	4	233	1	0	0	0	0	0	0	0	1	16769	845	30	4		4	TUFT1	1	151536460	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	31258447	151536460	97714161	14	117197											
FLG2	388698	broad.mit.edu	37	chr1	152328723	152328723	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaaaccagaggattgTcctgagacagacccatgctg	10	11	0	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:152328723T>C	uc001ezw.3	-	3	1612	c.1539A>G	c.(1537-1539)GGA>GGG	p.G513G	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	513	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGGATTGTCCTGAGACAG	0.522													C	152328723	T	C	152328723	2	2	233	1	0	0	0	0	0	0	0	1	5923	1654	58	3		3	FLG2	1	152328723	Silent	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	792263	152328723	96921898	15	117198											
PMVK	10654	broad.mit.edu	37	chr1	154898954	154898954	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacactctccgtgtgtcactCaccagctgcaggagagggac	12	13	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:154898954C>T	uc001ffq.2	-	4	641	c.318G>A	c.(316-318)GTG>GTA	p.V106V		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	106					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGTGTCACTCACCAGCTGCA	0.607													T	154898954	C	T	154898954	2	4	233	1	0	0	0	0	0	0	0	1	12144	813	29	4		4	PMVK	1	154898954	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2570231	154898954	94351667	16	117199											
SPTA1	6708	broad.mit.edu	37	chr1	158632694	158632694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaggatggcctatttcTtcaaaatatgcagccaggtc	9	9	3	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:158632694T>C	uc001fst.1	-	17	2461	c.2262A>G	c.(2260-2262)GAA>GAG	p.E754E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	754	Spectrin 8.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGCCTATTTCTTCAAAATATG	0.433													C	158632694	T	C	158632694	2	2	233	1	0	0	0	0	0	0	0	1	15115	1606	56	3		3	SPTA1	1	158632694	Silent	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	3733740	158632694	90617927	17	117200											
OR6N1	128372	broad.mit.edu	37	chr1	158735928	158735928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccaaactcagcacaggaGggaagtcacaaaagacgtgc	11	10	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:158735928G>A	uc010piq.1	-	1	545	c.545C>T	c.(544-546)CCT>CTT	p.P182L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CAGCACAGGAGGGAAGTCACA	0.478													A	158735928	G	A	158735928	3	1	233	1	0	0	0	0	1	0	0	0	11206	1000	35	4	396	4	OR6N1	1	158735928	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	103234	158735928	90514693	18	117201											
ATP1A2	477	broad.mit.edu	37	chr1	160109759	160109759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccgaaagctcatcctgCggcggtatcctggtggtaag	14	10	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:160109759C>T	uc001fvc.2	+	22	3151	c.3019C>T	c.(3019-3021)CGG>TGG	p.R1007W	ATP1A2_uc001fvd.2_Missense_Mutation_p.R726W	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	1007	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1007P(1)		central_nervous_system(3)|ovary(2)|skin(2)	7	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)			GCTCATCCTGCGGCGGTATCC	0.587													T	160109759	C	T	160109759	3	4	233	1	0	0	0	0	1	0	0	0	1129	759	27	1	3105	1	ATP1A2	1	160109759	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	1373831	160109759	89140862	19	117202											
NR1I3	9970	broad.mit.edu	37	chr1	161199656	161199656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctggatttggtacccGtaggcctcattaatgctccg	11	10	1	0	rs79799851	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:161199656G>A	uc001fzx.2	-	9	1193	c.990C>T	c.(988-990)TAC>TAT	p.Y330Y	TOMM40L_uc010pkl.1_3'UTR|TOMM40L_uc001fzd.2_3'UTR|TOMM40L_uc009wue.2_3'UTR|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_3'UTR|NR1I3_uc001fzf.2_Intron|NR1I3_uc001fzg.2_Intron|NR1I3_uc001fzh.2_Silent_p.Y302Y|NR1I3_uc001fzi.2_Intron|NR1I3_uc001fzj.2_Silent_p.Y297Y|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Silent_p.Y258Y|NR1I3_uc001fzm.2_Silent_p.Y251Y|NR1I3_uc001fzn.2_Silent_p.Y120Y|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Silent_p.Y335Y|NR1I3_uc001fzo.2_Silent_p.Y159Y|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_3'UTR|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Silent_p.Y120Y|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_3'UTR|NR1I3_uc001fzw.2_Intron|NR1I3_uc001fzy.2_Silent_p.Y326Y|NR1I3_uc001fzz.2_Silent_p.Y292Y|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Silent_p.Y287Y|NR1I3_uc001gac.2_Intron	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	330					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			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTTGGTACCCGTAGGCCTCAT	0.572													A	161199656	G	A	161199656	2	1	233	1	0	0	0	0	0	0	0	1	10621	1140	40	1		1	NR1I3	1	161199656	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1089897	161199656	88050965	20	117203											
FMO3	2328	broad.mit.edu	37	chr1	171083449	171083449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtccagtcccttggggCtgccattcccacagttgacc	9	15	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:171083449C>A	uc001ghi.2	+	7	1241	c.1130C>A	c.(1129-1131)GCT>GAT	p.A377D	FMO3_uc001ghh.2_Missense_Mutation_p.A377D|FMO3_uc010pmb.1_Missense_Mutation_p.A357D|FMO3_uc010pmc.1_Missense_Mutation_p.A314D	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	377					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCCTTGGGGCTGCCATTCCC	0.448													A	171083449	C	A	171083449	3	1	233	1	0	0	0	0	1	0	0	0	5956	797	28	5	1152	5	FMO3	1	171083449	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	9883793	171083449	78167172	21	117204											
MYOC	4653	broad.mit.edu	37	chr1	171621299	171621299	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcttctcttcctccagAactgacttgtctcggaggag	9	13	3	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:171621299A>T	uc001ghu.2	-	1	475	c.453T>A	c.(451-453)GTT>GTA	p.V151V	MYOC_uc010pmk.1_Silent_p.V93V	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	151	Potential.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTCCTCCAGAACTGACTTGT	0.572													T	171621299	A	T	171621299	2	4	233	1	0	0	0	0	0	0	0	1	10086	233	9	5		5	MYOC	1	171621299	Silent	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	537850	171621299	77629322	22	117205											
CRB1	23418	broad.mit.edu	37	chr1	197404649	197404650	+	Frame_Shift_Del	DEL	AG	AG	-													agtggatatagacaactgccAgagtcaccagtgtgcaaatg							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:197404649_197404650delAG	uc001gtz.2	+	9	3791_3792	c.3656_3657delAG	c.(3655-3657)CAGfs	p.Q1219fs	CRB1_uc010poz.1_Frame_Shift_Del_p.Q1195fs|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Frame_Shift_Del_p.Q1107fs|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Frame_Shift_Del_p.Q700fs|CRB1_uc001gub.1_Frame_Shift_Del_p.Q868fs	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1219	EGF-like 17.|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GACAACTGCCAGAGTCACCAGT	0.455													-	197404650	AG	-	197404649	7	5	233	1	0	1	0	1	0	0	0	0	3848	188	7	0	3690	0	CRB1	1	197404649	Frame_Shift_Del	DEL	AG	TCGA-EQ-8122-01A-11D-2340-08	25783350	197404649	51845972	23	117206											
CR2	1380	broad.mit.edu	37	chr1	207646324	207646324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggccctgctcccctgtGtaaactttccctccttgctg	9	15	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:207646324G>A	uc001hfw.2	+	10	1872	c.1778G>A	c.(1777-1779)TGT>TAT	p.C593Y	CR2_uc001hfv.2_Missense_Mutation_p.C593Y|CR2_uc009xch.2_Missense_Mutation_p.C593Y|CR2_uc009xci.1_Missense_Mutation_p.C78Y	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	593	Sushi 9.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GCTCCCCTGTGTAAACTTTCC	0.483													A	207646324	G	A	207646324	3	1	233	1	0	0	0	0	1	0	0	0	3842	1377	48	4	1816	4	CR2	1	207646324	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	10241675	207646324	41604297	24	117207											
HLX	3142	broad.mit.edu	37	chr1	221053383	221053383	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggatctgggggcggccccgGagggcctggcaggggcctcg	22	12	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:221053383G>T	uc001hmv.3	+	1	641	c.184G>T	c.(184-186)GAG>TAG	p.E62*		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	62					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		GGCGGCCCCGGAGGGCCTGGC	0.721													T	221053383	G	T	221053383	4	4	233	1	0	0	0	0	0	1	0	0	7216	1175	41	5	186	5	HLX	1	221053383	Nonsense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	13407059	221053383	28197238	25	117208											
DISC1	27185	broad.mit.edu	37	chr1	231906801	231906801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttccatgcagagccacCggaaaccataaggaggtact	9	13	0	1	rs143165003	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:231906801C>T	uc001huz.2	+	6	1672	c.1619C>T	c.(1618-1620)CCG>CTG	p.P540L	TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.P529L|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.P495L|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.P495L|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.P529L|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.P529L|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Missense_Mutation_p.P540L|DISC1_uc010pwr.1_Missense_Mutation_p.P540L|DISC1_uc010pws.1_Missense_Mutation_p.P540L|DISC1_uc010pwt.1_Missense_Mutation_p.P540L|DISC1_uc010pwu.1_Missense_Mutation_p.P190L|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.P540L|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.P540L|DISC1_uc010pxb.1_Missense_Mutation_p.P540L|DISC1_uc010pxc.1_Missense_Mutation_p.P540L|DISC1_uc010pxd.1_Missense_Mutation_p.P185L|DISC1_uc010pxe.1_Missense_Mutation_p.P540L|DISC1_uc009xfr.2_Missense_Mutation_p.P495L|DISC1_uc010pxf.1_Missense_Mutation_p.P540L|DISC1_uc010pxg.1_Missense_Mutation_p.P540L|DISC1_uc010pxh.1_Missense_Mutation_p.P572L|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.P185L|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Missense_Mutation_p.P185L|DISC1_uc001hva.2_Missense_Mutation_p.P540L	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	540	Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				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			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGAGCCACCGGAAACCATA	0.542													T	231906801	C	T	231906801	3	4	233	1	0	0	0	0	1	0	0	0	4538	652	23	1	2004	1	DISC1	1	231906801	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	10853418	231906801	17343820	26	117209											
RYR2	6262	broad.mit.edu	37	chr1	237947931	237947931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttttcagaggctttttcCgcatcatttgcagcctgctg	10	11	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:237947931C>T	uc001hyl.1	+	90	13039	c.12919C>T	c.(12919-12921)CGC>TGC	p.R4307C	RYR2_uc010pya.1_Missense_Mutation_p.R722C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4307	Helical; Name=M4; (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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AGGCTTTTTCCGCATCATTTG	0.507													T	237947931	C	T	237947931	3	4	233	1	0	0	0	0	1	0	0	0	13769	652	23	1	13277	1	RYR2	1	237947931	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	6041130	237947931	11302690	27	117210											
OR1C1	26188	broad.mit.edu	37	chr1	247920903	247920903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttgacagagtgtcgctcTcaggcatatggggggatgaa	16	6	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr1:247920903T>C	uc010pza.1	-	1	806	c.806A>G	c.(805-807)GAG>GGG	p.E269G		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			AGTGTCGCTCTCAGGCATATG	0.512													C	247920903	T	C	247920903	3	2	233	1	0	0	0	0	1	0	0	0	10952	1551	54	3	140	3	OR1C1	1	247920903	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	9972972	247920903	1329718	28	117211											
PXDN	7837	broad.mit.edu	37	chr2	1652755	1652755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgccgcagcaggccgcGgtggctggccaggtcgcgga	18	15	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:1652755G>A	uc002qxa.2	-	17	2861	c.2797C>T	c.(2797-2799)CGC>TGC	p.R933C		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	933					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			pancreas(6)|ovary(2)	8	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)		AGCAGGCCGCGGTGGCTGGCC	0.692													A	1652755	G	A	1652755	3	1	233	1	0	0	0	0	1	0	0	0	12847	1116	39	1	1670	1	PXDN	2	1652755	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		1652755	241546618	29	117212											
DHX57	90957	broad.mit.edu	37	chr2	39088395	39088395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaactcagaaatatgtaaaCgacaagccagaggtaggttc	10	7	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:39088395C>T	uc002rrf.2	-	5	1256	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.R386H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	386							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				AATATGTAAACGACAAGCCAG	0.403													T	39088395	C	T	39088395	3	4	233	1	0	0	0	0	1	0	0	0	4513	536	19	1	3083	1	DHX57	2	39088395	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	37435640	39088395	204110978	30	117213											
PLEKHH2	130271	broad.mit.edu	37	chr2	43980895	43980895	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaatggcagctcttttatCtcaggtaacttccatgttat	7	8	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:43980895C>A	uc010yny.1	+	25	3874	c.3791C>A	c.(3790-3792)TCT>TAT	p.S1264Y		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1264	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCTTTTATCTCAGGTAACT	0.279													A	43980895	C	A	43980895	3	1	233	1	0	0	0	0	1	0	0	0	12077	913	32	5	3885	5	PLEKHH2	2	43980895	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	4892500	43980895	199218478	31	117214											
NRXN1	9378	broad.mit.edu	37	chr2	51255158	51255158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctgcaggcggccgccgCgcgtcagaatcagctccagg	15	14	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:51255158C>T	uc010fbq.2	-	2	1731	c.254G>A	c.(253-255)CGC>CAC	p.R85H	NRXN1_uc002rxe.3_Missense_Mutation_p.R85H|NRXN1_uc002rxd.1_Missense_Mutation_p.R85H	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGCCGCCGCGCGTCAGAAT	0.667													T	51255158	C	T	51255158	3	4	233	1	0	0	0	0	1	0	0	0	10665	768	27	1	4744	1	NRXN1	2	51255158	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	7274263	51255158	191944215	32	117215											
LBX2	85474	broad.mit.edu	37	chr2	74729922	74729924	+	In_Frame_Del	DEL	CCT	CCT	-													gcggtgggaaactccgacgcCctcctcgacacttttctccc							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:74729922_74729924delCCT	uc002slw.2	-	1	520_522	c.63_65delAGG	c.(61-66)GGAGGG>GGG	p.21_22GG>G	LOC151534_uc002slx.2_RNA	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	Error:Variant_position_missing_in_Q6XYB7_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACTCCGACGCCCTCCTCGACACT	0.631													-	74729924	CCT	-	74729922	7	5	233	1	0	1	0	1	0	0	0	0	8654	623	22	0	527	0	LBX2	2	74729922	In_Frame_Del	DEL	CCT	TCGA-EQ-8122-01A-11D-2340-08	23474764	74729922	168469451	33	117216											
FAM178B	51252	broad.mit.edu	37	chr2	97559780	97559780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccaggagccggctgagCgaggacagctggggaggaga	20	9	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:97559780C>T	uc002sxl.3	-	14	1910	c.1563G>A	c.(1561-1563)TCG>TCA	p.S521S	FAM178B_uc002sxi.3_Silent_p.S12S|FAM178B_uc002sxk.3_Silent_p.S236S|FAM178B_uc002sxj.3_5'UTR	NM_001122646	NP_001116118	Q8IXR5	F178B_HUMAN	hypothetical protein LOC51252 isoform A	701											0						GCCGGCTGAGCGAGGACAGCT	0.632													T	97559780	C	T	97559780	2	4	233	1	0	0	0	0	0	0	0	1	5504	755	27	1		1	FAM178B	2	97559780	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	22829858	97559780	145639593	34	117217											
PSD4	23550	broad.mit.edu	37	chr2	113950928	113950928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttccaccattgcaatccGgggatcttcccctcagtagg	9	15	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:113950928G>A	uc002tjc.2	+	8	2196	c.2013G>A	c.(2011-2013)CCG>CCA	p.P671P	PSD4_uc002tjd.2_Silent_p.P292P|PSD4_uc002tje.2_Silent_p.P642P|PSD4_uc002tjf.2_Silent_p.P292P	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	671	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						ATTGCAATCCGGGGATCTTCC	0.577													A	113950928	G	A	113950928	2	1	233	1	0	0	0	0	0	0	0	1	12649	1103	39	1		1	PSD4	2	113950928	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	16391148	113950928	129248445	35	117218											
GYPC	2995	broad.mit.edu	37	chr2	127451484	127451484	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccggatggcagaatggagAcctccacccccaccataatg	11	14	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:127451484A>T	uc002tnq.2	+	3	307	c.151A>T	c.(151-153)ACC>TCC	p.T51S	GYPC_uc002tnr.2_Missense_Mutation_p.T32S|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	51	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CAGAATGGAGACCTCCACCCC	0.547													T	127451484	A	T	127451484	3	4	233	1	0	0	0	0	1	0	0	0	6910	275	10	5	161	5	GYPC	2	127451484	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	13500556	127451484	115747889	36	117219											
IFIH1	64135	broad.mit.edu	37	chr2	163174424	163174424	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacttatccaagacgtctcTaactagaagcttgtccacca	6	13	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:163174424T>G	uc002uce.2	-	1	616	c.394A>C	c.(394-396)AGA>CGA	p.R132R	IFIH1_uc002ucf.2_Silent_p.R132R	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	132	CARD 2.				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			ovary(1)	1						AAGACGTCTCTAACTAGAAGC	0.488													G	163174424	T	G	163174424	2	3	233	1	0	0	0	0	0	0	0	1	7520	1530	53	5		5	IFIH1	2	163174424	Silent	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	35722940	163174424	80024949	37	117220											
TTN	7273	broad.mit.edu	37	chr2	179432605	179432605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtcacagggatctctgGctacatagcattcagaattc	11	9	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:179432605G>A	uc010zfg.1	-	275	70774	c.70550C>T	c.(70549-70551)GCC>GTC	p.A23517V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A17212V|TTN_uc010zfi.1_Missense_Mutation_p.A17145V|TTN_uc010zfj.1_Missense_Mutation_p.A17020V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24444							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGATCTCTGGCTACATAGCA	0.408													A	179432605	G	A	179432605	3	1	233	1	0	0	0	0	1	0	0	0	16732	1203	42	2	29873	2	TTN	2	179432605	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	16258181	179432605	63766768	38	117221											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702135	187702135	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcagctactagtttgctaGagtttttgaattcctccaaa	7	9	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:187702135G>C	uc002upu.1	-	5	681	c.641C>G	c.(640-642)TCT>TGT	p.S214C		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	214					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGTTTGCTAGAGTTTTTGAA	0.393													C	187702135	G	C	187702135	3	2	233	1	0	0	0	0	1	0	0	0	18238	942	33	5	1280	5	ZSWIM2	2	187702135	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	8269530	187702135	55497238	39	117222											
MAP2	4133	broad.mit.edu	37	chr2	210558914	210558914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagagaaaagggacctcCacagtaagaataaggatgat	12	5	0	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:210558914C>A	uc002vde.1	+	7	2268	c.2020C>A	c.(2020-2022)CAC>AAC	p.H674N	MAP2_uc002vdc.1_Missense_Mutation_p.H674N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.H670N	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	674					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	AAGGGACCTCCACAGTAAGAA	0.418													A	210558914	C	A	210558914	3	1	233	1	0	0	0	0	1	0	0	0	9235	594	21	5	2034	5	MAP2	2	210558914	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	22856779	210558914	32640459	40	117223											
ITM2C	81618	broad.mit.edu	37	chr2	231742258	231742258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccggcgccgggcaacGcggaggcgtgagtggctggc	20	13	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr2:231742258G>A	uc002vqz.2	+	5	825	c.705G>A	c.(703-705)ACG>ACA	p.T235T	ITM2C_uc002vra.2_Silent_p.T188T|ITM2C_uc002vrb.2_Silent_p.T198T|ITM2C_uc002vrc.2_Silent_p.T124T|ITM2C_uc002vrd.2_Silent_p.T87T	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	235					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCCGGGCAACGCGGAGGCGTG	0.622													A	231742258	G	A	231742258	2	1	233	1	0	0	0	0	0	0	0	1	7914	1074	38	1		1	ITM2C	2	231742258	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	21183344	231742258	11457115	41	117224											
BHLHE40	8553	broad.mit.edu	37	chr3	5024628	5024628	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggccaagcacgagaacactCgggacctgaagtcttcgcag	12	12	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:5024628C>G	uc003bqf.2	+	5	797	c.490C>G	c.(490-492)CGG>GGG	p.R164G	uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_Missense_Mutation_p.R24G	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	164	Orange.					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGAGAACACTCGGGACCTGAA	0.577													G	5024628	C	G	5024628	3	3	233	1	0	0	0	0	1	0	0	0	1423	875	31	5	508	5	BHLHE40	3	5024628	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08		5024628	192997802	42	117225											
CLASP2	23122	broad.mit.edu	37	chr3	33558542	33558542	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatcccaaacactaaaAgattcttcctgtgtcagttt	5	10	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:33558542A>T	uc003cfu.2	-	34	4266	c.3912T>A	c.(3910-3912)TCT>TCA	p.S1304S	CLASP2_uc003cfs.2_Silent_p.S511S|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Silent_p.S904S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2	1313										ovary(3)|central_nervous_system(1)	4						AAACACTAAAAGATTCTTCCT	0.358													T	33558542	A	T	33558542	2	4	233	1	0	0	0	0	0	0	0	1	3455	59	3	5		5	CLASP2	3	33558542	Silent	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	28533914	33558542	164463888	43	117226											
TMEM42	131616	broad.mit.edu	37	chr3	44906554	44906554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgggctatgtgctgtAtggagagtgccaggaggtct	15	8	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:44906554A>G	uc003cnz.2	+	3	371	c.362A>G	c.(361-363)TAT>TGT	p.Y121C		NM_144638	NP_653239	Q69YG0	TMM42_HUMAN	transmembrane protein 42	121						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		TATGTGCTGTATGGAGAGTGC	0.562													G	44906554	A	G	44906554	3	3	233	1	0	0	0	0	1	0	0	0	16163	449	16	3	372	3	TMEM42	3	44906554	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	11348012	44906554	153115876	44	117227											
NISCH	11188	broad.mit.edu	37	chr3	52522419	52522419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctttgctgatggccacGtgctagagctgctcgtgggg	16	11	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:52522419G>A	uc011beg.1	+	17	2983	c.2911G>A	c.(2911-2913)GTG>ATG	p.V971M	NISCH_uc003ded.3_Missense_Mutation_p.V971M|NISCH_uc003dee.3_Missense_Mutation_p.V460M|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	971					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				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)		TGATGGCCACGTGCTAGAGCT	0.642													A	52522419	G	A	52522419	3	1	233	1	0	0	0	0	1	0	0	0	10432	1145	40	1	2973	1	NISCH	3	52522419	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	7615865	52522419	145500011	45	117228											
IMPG2	50939	broad.mit.edu	37	chr3	100962804	100962804	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgtctctggacaatttctCtagggaagaagttcttgtcc	9	8	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:100962804C>T	uc003duq.1	-	13	2574	c.2371G>A	c.(2371-2373)GAG>AAG	p.E791K	IMPG2_uc011bhe.1_Missense_Mutation_p.E654K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	791	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GACAATTTCTCTAGGGAAGAA	0.433													T	100962804	C	T	100962804	3	4	233	1	0	0	0	0	1	0	0	0	7729	922	32	4	1382	4	IMPG2	3	100962804	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	48440385	100962804	97059626	46	117229											
ALCAM	214	broad.mit.edu	37	chr3	105253671	105253671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaattcattctgaacagGcagtatttgatatttactgt	6	6	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:105253671G>A	uc003dvx.2	+	6	1252	c.712G>A	c.(712-714)GCA>ACA	p.A238T	ALCAM_uc003dvw.1_Missense_Mutation_p.A238T|ALCAM_uc003dvy.2_Missense_Mutation_p.A238T|ALCAM_uc011bhh.1_Missense_Mutation_p.A187T|ALCAM_uc010hpp.2_Missense_Mutation_p.A47T	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	238	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						TTCTGAACAGGCAGTATTTGA	0.343													A	105253671	G	A	105253671	3	1	233	1	0	0	0	0	1	0	0	0	487	1203	42	2	734	2	ALCAM	3	105253671	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	4290867	105253671	92768759	47	117230											
DZIP3	9666	broad.mit.edu	37	chr3	108388536	108388536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgcttagattacagcGtcaaatccatgctaaagata	7	7	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:108388536G>A	uc003dxd.2	+	22	2854	c.2432G>A	c.(2431-2433)CGT>CAT	p.R811H	DZIP3_uc003dxf.1_Missense_Mutation_p.R811H|DZIP3_uc011bhm.1_Missense_Mutation_p.R262H	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	811	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGATTACAGCGTCAAATCCAT	0.353													A	108388536	G	A	108388536	3	1	233	1	0	0	0	0	1	0	0	0	4865	1145	40	1	2514	1	DZIP3	3	108388536	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	3134865	108388536	89633894	48	117231											
POPDC2	64091	broad.mit.edu	37	chr3	119367120	119367120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacccagtatgccactGtctggcctggacaacctggc	9	16	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:119367120G>A	uc003ecx.1	-	3	1130	c.996C>T	c.(994-996)GAC>GAT	p.D332D	POPDC2_uc010hqw.1_Silent_p.D332D|POPDC2_uc003ecy.1_Silent_p.D150D	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	332				PDS -> ASN (in Ref. 1).		integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)		GTATGCCACTGTCTGGCCTGG	0.557													A	119367120	G	A	119367120	2	1	233	1	0	0	0	0	0	0	0	1	12255	1368	48	4		4	POPDC2	3	119367120	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	10978584	119367120	78655310	49	117232											
PLXNA1	5361	broad.mit.edu	37	chr3	126749100	126749100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggcacactgcagaaGtttgtggacgacctgtttga	13	10	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:126749100G>A	uc003ejg.2	+	28	5011	c.5007G>A	c.(5005-5007)AAG>AAA	p.K1669K	PLXNA1_uc003ejh.2_Silent_p.K337K	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1692	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CACTGCAGAAGTTTGTGGACG	0.632													A	126749100	G	A	126749100	2	1	233	1	0	0	0	0	0	0	0	1	12119	1020	36	4		4	PLXNA1	3	126749100	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	7381980	126749100	71273330	50	117233											
TMCC1	23023	broad.mit.edu	37	chr3	129373845	129373845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgttcataggactgatacGcgattttttcttccatgctt	7	11	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr3:129373845G>A	uc003emz.3	-	6	2114	c.1613C>T	c.(1612-1614)GCG>GTG	p.A538V	TMCC1_uc003emy.3_Missense_Mutation_p.A214V|TMCC1_uc011blc.1_Missense_Mutation_p.A359V|TMCC1_uc010htg.2_Missense_Mutation_p.A424V	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	538	Potential.					integral to membrane				skin(1)	1						GGACTGATACGCGATTTTTTC	0.423													A	129373845	G	A	129373845	3	1	233	1	0	0	0	0	1	0	0	0	15989	1087	38	1	356	1	TMCC1	3	129373845	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	2624745	129373845	68648585	51	117234											
NPFFR2	10886	broad.mit.edu	37	chr4	73013068	73013068	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtggcacgtggtgtccaggAagaagcagaagatcattaag	14	6	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr4:73013068A>T	uc003hgg.2	+	4	1206	c.1108A>T	c.(1108-1110)AAG>TAG	p.K370*	NPFFR2_uc010iig.1_Nonsense_Mutation_p.K152*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.K271*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.K268*|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	370	Cytoplasmic (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGTGTCCAGGAAGAAGCAGAA	0.493													T	73013068	A	T	73013068	4	4	233	1	0	0	0	0	0	1	0	0	10578	247	9	5	1128	5	NPFFR2	4	73013068	Nonsense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08		73013068	118141208	52	117235											
GUCY1B3	2983	broad.mit.edu	37	chr4	156716576	156716576	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttccatgggatcctttcTcacatcaatactgtttttgt	6	9	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr4:156716576T>C	uc003ipc.2	+	7	977	c.810T>C	c.(808-810)TCT>TCC	p.S270S	GUCY1B3_uc011cio.1_Silent_p.S292S|GUCY1B3_uc011cip.1_Silent_p.S250S|GUCY1B3_uc003ipd.2_Silent_p.S198S|GUCY1B3_uc010iqf.2_Silent_p.S270S|GUCY1B3_uc010iqg.2_Silent_p.S198S|GUCY1B3_uc011ciq.1_Silent_p.S198S	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	270					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGATCCTTTCTCACATCAATA	0.378													C	156716576	T	C	156716576	2	2	233	1	0	0	0	0	0	0	0	1	6895	1538	54	3		3	GUCY1B3	4	156716576	Silent	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	83703508	156716576	34437700	53	117236											
GUCY1B3	2983	broad.mit.edu	37	chr4	156721189	156721189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaggctacagctcacgTtaagagccctggaagatgaa	11	10	1	4			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr4:156721189T>C	uc003ipc.2	+	9	1305	c.1138T>C	c.(1138-1140)TTA>CTA	p.L380L	GUCY1B3_uc011cio.1_Silent_p.L402L|GUCY1B3_uc011cip.1_Silent_p.L360L|GUCY1B3_uc003ipd.2_Silent_p.L308L|GUCY1B3_uc010iqf.2_Silent_p.L380L|GUCY1B3_uc010iqg.2_Silent_p.L308L|GUCY1B3_uc011ciq.1_Silent_p.L308L	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	380					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAGCTCACGTTAAGAGCCCT	0.408													C	156721189	T	C	156721189	2	2	233	1	0	0	0	0	0	0	0	1	6895	1722	60	3		3	GUCY1B3	4	156721189	Silent	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	4613	156721189	34433087	54	117237											
PRDM9	56979	broad.mit.edu	37	chr5	23527808	23527808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtgggcggggctttagcGataggtcaagcctctgctat	15	8	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:23527808G>A	uc003jgo.2	+	11	2793	c.2611G>A	c.(2611-2613)GAT>AAT	p.D871N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	871	C2H2-type 14.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GGGCTTTAGCGATAGGTCAAG	0.547										HNSCC(3;0.000094)			A	23527808	G	A	23527808	3	1	233	1	0	0	0	0	1	0	0	0	12463	1058	37	1	2649	1	PRDM9	5	23527808	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		23527808	157387452	55	117238											
RXFP3	51289	broad.mit.edu	37	chr5	33937024	33937024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagttgccggacggcgCgccgccaggacatcccccgg	16	16	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:33937024C>T	uc003jic.1	+	1	536	c.179C>T	c.(178-180)GCG>GTG	p.A60V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCGGACGGCGCGCCGCCAGGA	0.701													T	33937024	C	T	33937024	3	4	233	1	0	0	0	0	1	0	0	0	13761	768	27	1	181	1	RXFP3	5	33937024	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	10409216	33937024	146978236	56	117239											
EGFLAM	133584	broad.mit.edu	37	chr5	38463963	38463963	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaaattgctctgcacactAacaggcaatatatgagaggg	11	7	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:38463963A>T	uc003jlc.1	+	23	3253	c.2929A>T	c.(2929-2931)AAC>TAC	p.N977Y	EGFLAM_uc003jlb.1_Missense_Mutation_p.N969Y|EGFLAM_uc003jle.1_Missense_Mutation_p.N735Y|EGFLAM_uc003jlf.1_Missense_Mutation_p.N335Y|EGFLAM_uc003jlg.1_Missense_Mutation_p.N112Y|EGFLAM_uc003jlh.1_Missense_Mutation_p.N59Y	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	977	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TCTGCACACTAACAGGCAATA	0.537													T	38463963	A	T	38463963	3	4	233	1	0	0	0	0	1	0	0	0	4966	362	13	5	3005	5	EGFLAM	5	38463963	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	4526939	38463963	142451297	57	117240											
HSPB3	8988	broad.mit.edu	37	chr5	53751900	53751900	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagaccttcgaaggctggcTgctgataaaagcacaacacg	10	11	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:53751900T>A	uc003jph.1	+	1	456	c.281T>A	c.(280-282)CTA>CAA	p.L94Q		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	94					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				GAAGGCTGGCTGCTGATAAAA	0.498													A	53751900	T	A	53751900	3	1	233	1	0	0	0	0	1	0	0	0	7421	1580	55	5	283	5	HSPB3	5	53751900	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	15287937	53751900	127163360	58	117241											
DIAPH1	1729	broad.mit.edu	37	chr5	140908321	140908321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagcatttctggagccaGcattcatgtaatttccaaca	6	12	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:140908321G>A	uc003llb.3	-	23	3107	c.2966C>T	c.(2965-2967)GCT>GTT	p.A989V	DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.A980V|DIAPH1_uc010jgc.1_Missense_Mutation_p.A425V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	989	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGAGCCAGCATTCATGTA	0.468													A	140908321	G	A	140908321	3	1	233	1	0	0	0	0	1	0	0	0	4518	971	34	2	880	2	DIAPH1	5	140908321	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	87156421	140908321	40006939	59	117242											
FAT2	2196	broad.mit.edu	37	chr5	150885379	150885379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtactcattgagacagGgggcaaccaggcgctcccgg	14	13	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:150885379G>T	uc003lue.3	-	23	12810	c.12797C>A	c.(12796-12798)CCC>CAC	p.P4266H	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P873H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4266	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGAGACAGGGGGCAACCAG	0.647													T	150885379	G	T	150885379	3	4	233	1	0	0	0	0	1	0	0	0	5690	1232	43	5	256	5	FAT2	5	150885379	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	9977058	150885379	30029881	60	117243											
FLT4	2324	broad.mit.edu	37	chr5	180039518	180039518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcacttgcaggcccctGccctggagcaggtcccccag	13	17	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr5:180039518G>A	uc003mma.3	-	26	3604	c.3525C>T	c.(3523-3525)GGC>GGT	p.G1175G	FLT4_uc003mlz.3_Silent_p.G1175G	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1175	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	GCAGGCCCCTGCCCTGGAGCA	0.662									Congenital_Hereditary_Lymphedema				A	180039518	G	A	180039518	2	1	233	1	0	0	0	0	0	0	0	1	5944	1306	46	2		2	FLT4	5	180039518	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	29154139	180039518	875742	61	117244											
SERPINB9	5272	broad.mit.edu	37	chr6	2890467	2890467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgatgaagaaaaggaaaGggtggtcagcacagaacctg	14	7	1	4			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:2890467G>A	uc003mug.2	-	7	1182	c.1061C>T	c.(1060-1062)CCT>CTT	p.P354L	uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.P157L	NM_004155	NP_004146	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B, member 9	354					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				0	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAAAAGGAAAGGGTGGTCAGC	0.542													A	2890467	G	A	2890467	3	1	233	1	0	0	0	0	1	0	0	0	14108	1000	35	4	73	4	SERPINB9	6	2890467	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		2890467	168224600	62	117245											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157126	26157126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctggagccaaaaaaGcgaaaagcccgaaaaaggcg	12	10	0	0	rs149820567	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:26157126G>T	uc003ngq.2	+	1	568	c.508G>T	c.(508-510)GCG>TCG	p.A170S	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	170					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						AGCCAAAAAAGCGAAAAGCCC	0.582													T	26157126	G	T	26157126	3	4	233	1	0	0	0	0	1	0	0	0	7126	971	34	5	510	5	HIST1H1E	6	26157126	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	23266659	26157126	144957941	63	117246											
GPX6	257202	broad.mit.edu	37	chr6	28478622	28478622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattggatgtactcctcgccGttgagggtgagggctccata	13	9	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:28478622G>A	uc011dlj.1	-	2	197	c.147C>T	c.(145-147)AAC>AAT	p.N49N	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	49					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	ACTCCTCGCCGTTGAGGGTGA	0.458													A	28478622	G	A	28478622	2	1	233	1	0	0	0	0	0	0	0	1	6744	1136	40	1		1	GPX6	6	28478622	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	2321496	28478622	142636445	64	117247											
RNF5	6048	broad.mit.edu	37	chr6	32146405	32146405	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgctcgggaagctgtggtCagtgtgtgtggccacctgta	15	9	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:32146405C>T	uc003oaj.3	+	1	244	c.117C>T	c.(115-117)GTC>GTT	p.V39V	AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	39	RING-type.				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						AAGCTGTGGTCAGTGTGTGTG	0.597													T	32146405	C	T	32146405	2	4	233	1	0	0	0	0	0	0	0	1	13497	813	29	4		4	RNF5	6	32146405	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	3667783	32146405	138968662	65	117248											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975853	32975853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgggctttgattgcggCgatgccggccagcccgccct	14	14	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:32975853C>T	uc003ocr.2	-	2	344	c.268G>A	c.(268-270)GCC>ACC	p.A90T	HLA-DOA_uc010juj.2_Missense_Mutation_p.A60T|HLA-DOA_uc010jui.2_Missense_Mutation_p.A90T	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	90	Extracellular (Potential).|Alpha-1.				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				0						TTGATTGCGGCGATGCCGGCC	0.642													T	32975853	C	T	32975853	3	4	233	1	0	0	0	0	1	0	0	0	7200	768	27	1	500	1	HLA-DOA	6	32975853	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	829448	32975853	138139214	66	117249											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33048644	33048644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatcctggaggagaagcGggcagtgccggacaggatgt	18	8	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:33048644G>A	uc003ocu.1	+	2	355	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	HLA-DPA1_uc003oct.1_5'Flank|HLA-DPB1_uc011dqn.1_RNA|HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Missense_Mutation_p.R98Q|HLA-DPB1_uc011dqq.1_5'UTR	NM_002121	NP_002112	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP	99	Extracellular (Potential).|Beta-1.				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				ovary(1)	1						GAGGAGAAGCGGGCAGTGCCG	0.682													A	33048644	G	A	33048644	3	1	233	1	0	0	0	0	1	0	0	0	7203	1116	39	1	302	1	HLA-DPB1	6	33048644	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	72791	33048644	138066423	67	117250											
TAPBP	6892	broad.mit.edu	37	chr6	33272850	33272850	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgccctcctgaaagggttGaactgtaggcagccagaagg	15	9	0	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:33272850G>A	uc003odx.1	-	4	955	c.784C>T	c.(784-786)CAA>TAA	p.Q262*	TAPBP_uc010jus.1_Nonsense_Mutation_p.Q280*|TAPBP_uc003ody.2_Nonsense_Mutation_p.Q262*|TAPBP_uc003odz.2_Nonsense_Mutation_p.Q262*|TAPBP_uc010jut.1_Nonsense_Mutation_p.Q175*|TAPBP_uc011drc.1_Nonsense_Mutation_p.Q262*	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	262	Lumenal (Potential).				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			ovary(1)	1						TGAAAGGGTTGAACTGTAGGC	0.587													A	33272850	G	A	33272850	4	1	233	1	0	0	0	0	0	1	0	0	15549	1299	45	4	762	4	TAPBP	6	33272850	Nonsense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	224206	33272850	137842217	68	117251											
GPR116	221395	broad.mit.edu	37	chr6	46845998	46845998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaattaacattacccTgactgcagcagttcaaagat	6	11	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:46845998T>C	uc003oyo.3	-	10	1470	c.1181A>G	c.(1180-1182)CAG>CGG	p.Q394R	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.Q394R|GPR116_uc010jzi.1_Missense_Mutation_p.Q66R|GPR116_uc003oyr.2_Missense_Mutation_p.Q394R	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	394	Ig-like 2.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			AACATTACCCTGACTGCAGCA	0.373													C	46845998	T	C	46845998	3	2	233	1	0	0	0	0	1	0	0	0	6633	1580	55	3	2907	3	GPR116	6	46845998	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	13573148	46845998	124269069	69	117252											
GCM1	8521	broad.mit.edu	37	chr6	52993582	52993582	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcagatctgtgattcctcCcagaccataactcttggaga	8	11	3	4			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:52993582C>A	uc003pbp.2	-	6	942	c.733G>T	c.(733-735)GGA>TGA	p.G245*		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	245						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					GTGATTCCTCCCAGACCATAA	0.453													A	52993582	C	A	52993582	4	1	233	1	0	0	0	0	0	1	0	0	6297	632	22	5	581	5	GCM1	6	52993582	Nonsense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	6147584	52993582	118121485	70	117253											
COL12A1	1303	broad.mit.edu	37	chr6	75875408	75875408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgagaccctgtaaccgCgaaccattcctggagcagat	9	13	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:75875408C>T	uc003phs.2	-	14	2964	c.2798G>A	c.(2797-2799)CGC>CAC	p.R933H	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	933	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCTGTAACCGCGAACCATTCC	0.408													T	75875408	C	T	75875408	3	4	233	1	0	0	0	0	1	0	0	0	3669	768	27	1	6605	1	COL12A1	6	75875408	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	22881826	75875408	95239659	71	117254											
AMD1	262	broad.mit.edu	37	chr6	111210105	111210106	+	Frame_Shift_Del	DEL	AT	AT	-													agacgtttcattttgaagacAtgtggtaccaccctcttgct							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:111210104_111210105CAT>C	uc003puk.1	+	2	564_565	c.242_243CAT>C	c.(241-243)acafs	p.T81fs	AMD1_uc011eay.1_Frame_Shift_Del_p.T12fs|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Frame_Shift_Del_p.T52fs|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	81					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	ATTTTGAAGACATGTGGTACCA	0.401													-	111210106	AT	-	111210105	7	5	233	1	0	1	0	1	0	0	0	0	566	204	8	0	253	0	AMD1	6	111210105	Frame_Shift_Del	DEL	AT	TCGA-EQ-8122-01A-11D-2340-08	35334697	111210105	59904962	72	117255											
SYNE1	23345	broad.mit.edu	37	chr6	152651714	152651714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcaacggccaggtcGgtgggaactttgctcatcct	11	14	2	0	rs146180064		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:152651714G>A	uc010kiw.2	-	78	14708	c.14106C>T	c.(14104-14106)ACC>ACT	p.T4702T	SYNE1_uc003qot.3_Silent_p.T4631T|SYNE1_uc003qou.3_Silent_p.T4702T|SYNE1_uc010kiz.2_Silent_p.T457T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4702	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGCCAGGTCGGTGGGAACTT	0.527										HNSCC(10;0.0054)			A	152651714	G	A	152651714	2	1	233	1	0	0	0	0	0	0	0	1	15442	1103	39	1		1	SYNE1	6	152651714	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	41441609	152651714	18463353	73	117256											
MAP3K4	4216	broad.mit.edu	37	chr6	161469819	161469819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgttagactcagtgggtgGatctttgccaaaaaaatcaa	9	7	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr6:161469819G>A	uc003qtn.2	+	3	657	c.515G>A	c.(514-516)GGA>GAA	p.G172E	MAP3K4_uc010kkc.1_Missense_Mutation_p.G172E|MAP3K4_uc003qto.2_Missense_Mutation_p.G172E|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	172					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			ovary(3)|lung(3)|skin(2)|stomach(1)	9		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)		TCAGTGGGTGGATCTTTGCCA	0.433													A	161469819	G	A	161469819	3	1	233	1	0	0	0	0	1	0	0	0	9252	1174	41	4	525	4	MAP3K4	6	161469819	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	8818105	161469819	9645248	74	117257											
SDK1	221935	broad.mit.edu	37	chr7	4116664	4116664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagtgtacggcaggaaCgactctcgtctcacgcacac	12	12	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:4116664C>T	uc003smx.2	+	21	3184	c.3045C>T	c.(3043-3045)AAC>AAT	p.N1015N	SDK1_uc010kso.2_Silent_p.N291N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1015	Fibronectin type-III 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		ACGGCAGGAACGACTCTCGTC	0.552													T	4116664	C	T	4116664	2	4	233	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4116664	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08		4116664	155021999	75	117258											
FBXL18	80028	broad.mit.edu	37	chr7	5521433	5521433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggttcggcggttcctcGgccactctgctcttaaataa	9	13	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:5521433G>A	uc003son.3	-	5	2224	c.2130C>T	c.(2128-2130)GCC>GCT	p.A710A		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	Error:Variant_position_missing_in_Q96ME1_after_alignment										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGGTTCCTCGGCCACTCTGC	0.637													A	5521433	G	A	5521433	2	1	233	1	0	0	0	0	0	0	0	1	5714	1103	39	1		1	FBXL18	7	5521433	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1404769	5521433	153617230	76	117259											
CYP3A4	1576	broad.mit.edu	37	chr7	99359710	99359710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagtactttgggtcacGgtgaagagcatagcttggaa	13	7	1	2	rs143966082		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:99359710G>A	uc003urv.1	-	11	1311	c.1207C>T	c.(1207-1209)CGT>TGT	p.R403C	CYP3A4_uc003urw.1_Missense_Mutation_p.R402C|CYP3A4_uc011kiz.1_Missense_Mutation_p.R362C|CYP3A4_uc011kja.1_Missense_Mutation_p.R354C|CYP3A4_uc011kjb.1_Missense_Mutation_p.R253C	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	403					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			central_nervous_system(3)|ovary(1)	4	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)	TTTGGGTCACGGTGAAGAGCA	0.507													A	99359710	G	A	99359710	3	1	233	1	0	0	0	0	1	0	0	0	4178	1116	39	1	316	1	CYP3A4	7	99359710	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	93838277	99359710	59778953	77	117260											
GRM8	2918	broad.mit.edu	37	chr7	126086384	126086384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagagatactgaagcacTtaaactcatggagacagtaa	9	9	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:126086384T>G	uc003vlr.2	-	9	2784	c.2473A>C	c.(2473-2475)AGT>CGT	p.S825R	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S825R|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	825	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACTGAAGCACTTAAACTCATG	0.388										HNSCC(24;0.065)			G	126086384	T	G	126086384	3	3	233	1	0	0	0	0	1	0	0	0	6803	1609	56	5	311	5	GRM8	7	126086384	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	26726674	126086384	33052279	78	117261											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138447126	138447126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcactgctttcaactcCaggaggccagaagtgtcctc	11	13	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:138447126C>T	uc003vuf.2	-	6	709	c.471G>A	c.(469-471)CTG>CTA	p.L157L	ATP6V0A4_uc003vug.2_Silent_p.L157L|ATP6V0A4_uc003vuh.2_Silent_p.L157L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	157	Cytoplasmic (Potential).				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			pancreas(1)	1						CTTTCAACTCCAGGAGGCCAG	0.418													T	138447126	C	T	138447126	2	4	233	1	0	0	0	0	0	0	0	1	1170	581	21	4		4	ATP6V0A4	7	138447126	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	12360742	138447126	20691537	79	117262											
SSPO	23145	broad.mit.edu	37	chr7	149486860	149486861	+	Frame_Shift_Ins	INS	-	-	C													agcaccttgcctggcccctcINScccaggctccctggacactg							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:149486859_149486860T>TC	uc010lpk.3	+	30	4633_4634	c.4633_4634T>TC	c.(4633-4635)tccfs	p.S1545fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1545					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGCCCCTCCCCAGGCTCC	0.673													C	149486861	-	C	149486860	7	5	233	1	0	1	1	0	0	0	0	0	15188	855	30	0	4752	0	SSPO	7	149486860	Frame_Shift_Ins	INS	-	TCGA-EQ-8122-01A-11D-2340-08	11039734	149486860	9651803	80	117263											
DPP6	1804	broad.mit.edu	37	chr7	154595578	154595578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtgtgtttcagcccaAcagcagcaacgacaacatcc	8	13	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr7:154595578A>G	uc003wlk.2	+	14	1541	c.1412A>G	c.(1411-1413)AAC>AGC	p.N471S	DPP6_uc003wli.2_Missense_Mutation_p.N407S|DPP6_uc003wlm.2_Missense_Mutation_p.N409S|DPP6_uc011kvq.1_Missense_Mutation_p.N364S	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	471	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			TTTCAGCCCAACAGCAGCAAC	0.557													G	154595578	A	G	154595578	3	3	233	1	0	0	0	0	1	0	0	0	4730	43	2	3	1582	3	DPP6	7	154595578	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	5108718	154595578	4543085	81	117264											
CSMD1	64478	broad.mit.edu	37	chr8	2807839	2807839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaagctttcaggagtaAgtgggcctcctccttcttgt	10	9	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:2807839A>C	uc011kwk.1	-	67	10621	c.10231T>G	c.(10231-10233)TTA>GTA	p.L3411V	CSMD1_uc011kwj.1_Missense_Mutation_p.L2725V|CSMD1_uc010lrg.2_Missense_Mutation_p.L1302V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3411	Extracellular (Potential).					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)		TTCAGGAGTAAGTGGGCCTCC	0.398													C	2807839	A	C	2807839	3	2	233	1	0	0	0	0	1	0	0	0	3944	69	3	5	482	5	CSMD1	8	2807839	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08		2807839	143556183	82	117265											
CSMD1	64478	broad.mit.edu	37	chr8	3265646	3265646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcgacttcctggctccgAgataatcaaccagacacagt	7	12	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:3265646A>G	uc011kwk.1	-	14	2239	c.1849T>C	c.(1849-1851)TCG>CCG	p.S617P	CSMD1_uc011kwj.1_Missense_Mutation_p.S9P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	617	Extracellular (Potential).|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)		CCTGGCTCCGAGATAATCAAC	0.403													G	3265646	A	G	3265646	3	3	233	1	0	0	0	0	1	0	0	0	3944	304	11	3	9076	3	CSMD1	8	3265646	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	457807	3265646	143098376	83	117266											
PCMTD1	115294	broad.mit.edu	37	chr8	52773426	52773426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaattaagcccaccattgTacttaaatatccggttccac	4	11	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:52773426T>C	uc003xqx.3	-	2	627	c.286A>G	c.(286-288)ACA>GCA	p.T96A	PCMTD1_uc003xqw.3_Missense_Mutation_p.T96A|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.T96A	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	96						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				CCCACCATTGTACTTAAATAT	0.299													C	52773426	T	C	52773426	3	2	233	1	0	0	0	0	1	0	0	0	11586	1638	57	3	807	3	PCMTD1	8	52773426	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	49507780	52773426	93590596	84	117267											
LRRC67	286187	broad.mit.edu	37	chr8	67926745	67926745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtgggtcagatttgtgGcataattcaggttagtgatt	12	4	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:67926745G>A	uc003xxc.2	-	3	357	c.212C>T	c.(211-213)GCC>GTC	p.A71V		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	71	LRR 2.										0						CAGATTTGTGGCATAATTCAG	0.303													A	67926745	G	A	67926745	3	1	233	1	0	0	0	0	1	0	0	0	9019	1203	42	2	490	2	LRRC67	8	67926745	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	15153319	67926745	78437277	85	117268											
HAS2	3037	broad.mit.edu	37	chr8	122626561	122626561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggattgtaaaccaaaCtgatactggaatgagtccta	10	7	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:122626561C>T	uc003yph.2	-	4	1985	c.1447G>A	c.(1447-1449)GTT>ATT	p.V483I		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	483	Helical; Name=6; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	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)			GTAAACCAAACTGATACTGGA	0.398													T	122626561	C	T	122626561	3	4	233	1	0	0	0	0	1	0	0	0	6962	565	20	4	215	4	HAS2	8	122626561	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	54699816	122626561	23737461	86	117269											
CYP11B1	1584	broad.mit.edu	37	chr8	143958275	143958275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccaaccaggcccagccGctctccaaaaagagccaagt	10	15	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:143958275G>A	uc003yxi.2	-	4	629	c.622C>T	c.(622-624)CGG>TGG	p.R208W	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R208W|CYP11B1_uc010mey.2_Missense_Mutation_p.R279W	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	208					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			ovary(3)	3	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)	AGGCCCAGCCGCTCTCCAAAA	0.622									Familial_Hyperaldosteronism_type_I				A	143958275	G	A	143958275	3	1	233	1	0	0	0	0	1	0	0	0	4145	1086	38	1	913	1	CYP11B1	8	143958275	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	21331714	143958275	2405747	87	117270											
ZNF34	80778	broad.mit.edu	37	chr8	145999177	145999177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaaatggcttctctccgGtgtgagtccgacgatgtcgg	12	11	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr8:145999177G>A	uc003zdy.3	-	6	1259	c.1157C>T	c.(1156-1158)ACC>ATC	p.T386I	ZNF34_uc010mgb.2_Missense_Mutation_p.T283I|ZNF34_uc003zdx.3_Missense_Mutation_p.T365I	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTTCTCTCCGGTGTGAGTCCG	0.463													A	145999177	G	A	145999177	3	1	233	1	0	0	0	0	1	0	0	0	17853	1261	44	4	529	4	ZNF34	8	145999177	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	2040902	145999177	364845	88	117271											
C9orf85	138241	broad.mit.edu	37	chr9	74586527	74586527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaaagaaagaagacattGttattccgtgagtgtttcct	11	5	0	4			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr9:74586527G>A	uc004ain.2	+	3	544	c.316G>A	c.(316-318)GTT>ATT	p.V106I	C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_Intron|C9orf85_uc010mov.2_Intron	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241	106											0						AGAAGACATTGTTATTCCGTG	0.308													A	74586527	G	A	74586527	3	1	233	1	0	0	0	0	1	0	0	0	2501	1377	48	4	326	4	C9orf85	9	74586527	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		74586527	66626904	89	117272											
OR13C4	138804	broad.mit.edu	37	chr9	107288811	107288811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctgtggccgagttcgttCgcaagatggtgtagaggatg	15	7	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr9:107288811C>T	uc011lvn.1	-	1	680	c.680G>A	c.(679-681)CGA>CAA	p.R227Q		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CGAGTTCGTTCGCAAGATGGT	0.413													T	107288811	C	T	107288811	3	4	233	1	0	0	0	0	1	0	0	0	10936	884	31	1	278	1	OR13C4	9	107288811	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	32702284	107288811	33924620	90	117273											
ORM2	5005	broad.mit.edu	37	chr9	117092829	117092829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaacaagacagaggacaCgatctttctcagagagtacc	8	13	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr9:117092829C>T	uc004bil.2	+	2	346	c.230C>T	c.(229-231)ACG>ATG	p.T77M	ORM1_uc011lxo.1_Intron	NM_000608	NP_000599	P19652	A1AG2_HUMAN	orosomucoid 2 precursor	77					acute-phase response|regulation of immune system process|transport	extracellular space	binding				0		Myeloproliferative disorder(63;0.163)				ACAGAGGACACGATCTTTCTC	0.502													T	117092829	C	T	117092829	3	4	233	1	0	0	0	0	1	0	0	0	11268	536	19	1	236	1	ORM2	9	117092829	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	9804018	117092829	24120602	91	117274											
SFMBT2	57713	broad.mit.edu	37	chr10	7327907	7327907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagtctgtgtacttcTctttgattgctggcaagaca	9	10	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:7327907T>C	uc009xio.1	-	5	537	c.446A>G	c.(445-447)GAG>GGG	p.E149G	SFMBT2_uc001ijn.1_Missense_Mutation_p.E149G|SFMBT2_uc010qay.1_Missense_Mutation_p.E149G|SFMBT2_uc001ijo.1_Missense_Mutation_p.E149G	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	149					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TGTGTACTTCTCTTTGATTGC	0.378													C	7327907	T	C	7327907	3	2	233	1	0	0	0	0	1	0	0	0	14158	1551	54	3	2306	3	SFMBT2	10	7327907	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08		7327907	128206840	92	117275											
KIAA1462	57608	broad.mit.edu	37	chr10	30316501	30316502	+	In_Frame_Ins	INS	-	-	CTG													ctccgcctcactctcctcacINStgctgctgctgctgctgctg					rs34594193		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:30316500_30316501A>ACTG	uc009xle.2	-	2	2713_2714	c.2576_2577T>CAGT	c.(2575-2577)agt>aCAGT	p.S859T	KIAA1462_uc001iux.3_In_Frame_Ins_p.S859T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Ins_p.S721T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	859	Ser-rich.									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						CACTCTCCTCActgctgctgct	0.569													CTG	30316502	-	CTG	30316501	7	5	233	1	0	1	1	0	0	0	0	0	8234	565	20	0	1511	0	KIAA1462	10	30316501	In_Frame_Ins	INS	-	TCGA-EQ-8122-01A-11D-2340-08	22988594	30316501	105218246	93	117276											
ANUBL1	93550	broad.mit.edu	37	chr10	46121821	46121821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttcaccagagaattatGtagcgacattggtgcagaac	11	7	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:46121821G>A	uc001jcp.3	-	7	1692	c.1450C>T	c.(1450-1452)CAT>TAT	p.H484Y	ANUBL1_uc001jcl.3_Missense_Mutation_p.H4Y|ANUBL1_uc001jcm.3_Missense_Mutation_p.H484Y|ANUBL1_uc009xmu.2_Missense_Mutation_p.H410Y|ANUBL1_uc001jcn.3_Missense_Mutation_p.H410Y|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	484							zinc ion binding				0						AGAGAATTATGTAGCGACATT	0.428													A	46121821	G	A	46121821	3	1	233	1	0	0	0	0	1	0	0	0	713	1377	48	4	749	4	ANUBL1	10	46121821	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	15805320	46121821	89412926	94	117277											
LIPJ	142910	broad.mit.edu	37	chr10	90350351	90350351	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatatataggtcccaaacGtggtatcttttcacaatgat	6	7	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:90350351G>A	uc001kff.2	+	3	221	c.-93G>A	c.(-95--91)ACGTG>ACATG			NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	lipase, family member J						lipid catabolic process		hydrolase activity			ovary(1)	1		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GGTCCCAAACGTGGTATCTTT	0.279													A	90350351	G	A	90350351	1	1	233	1	0	0	0	0	0	0	0	0	8826	1160	40	1		1	LIPJ	10	90350351	Translation_Start_Site	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	44228530	90350351	45184396	95	117278											
TUBGCP2	10844	broad.mit.edu	37	chr10	135094780	135094780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtggcgcccacccacctgGagatgacgctggccatgccg	15	15	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr10:135094780G>A	uc001lmg.1	-	17	2927	c.2570C>T	c.(2569-2571)TCC>TTC	p.S857F	TUBGCP2_uc001lmf.1_Missense_Mutation_p.S450F|TUBGCP2_uc010qvc.1_Missense_Mutation_p.S885F|TUBGCP2_uc009ybk.1_Missense_Mutation_p.S880F|TUBGCP2_uc010qvd.1_Missense_Mutation_p.S727F|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	857					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		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)		CACCCACCTGGAGATGACGCT	0.343													A	135094780	G	A	135094780	3	1	233	1	0	0	0	0	1	0	0	0	16763	1174	41	4	146	4	TUBGCP2	10	135094780	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	44744429	135094780	439967	96	117279											
MUC5B	727897	broad.mit.edu	37	chr11	1268887	1268887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccggggccctctggcGgggactttgacacctactcc	12	16	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:1268887G>A	uc009ycr.1	+	50	12487	c.12361G>A	c.(12361-12363)GGG>AGG	p.G4121R	MUC5B_uc001ltb.2_Missense_Mutation_p.G3596R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3593	7 X Cys-rich subdomain repeats.|Cys-rich subdomain 6.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GCCCTCTGGCGGGGACTTTGA	0.682													A	1268887	G	A	1268887	3	1	233	1	0	0	0	0	1	0	0	0	9979	1116	39	1	10908	1	MUC5B	11	1268887	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		1268887	133737629	97	117280											
PLEKHA7	144100	broad.mit.edu	37	chr11	16816468	16816468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatctcacccggattttttActgactccactagaattctg	5	12	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:16816468A>C	uc001mmo.2	-	18	2522	c.2507T>G	c.(2506-2508)GTA>GGA	p.V836G	PLEKHA7_uc010rcu.1_Missense_Mutation_p.V836G|PLEKHA7_uc010rcv.1_Missense_Mutation_p.V410G|PLEKHA7_uc001mmn.2_Missense_Mutation_p.V544G	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	836					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CGGATTTTTTACTGACTCCAC	0.498													C	16816468	A	C	16816468	3	2	233	1	0	0	0	0	1	0	0	0	12061	391	14	5	882	5	PLEKHA7	11	16816468	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	15547581	16816468	118190048	98	117281											
ANO3	63982	broad.mit.edu	37	chr11	26681809	26681809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacatttaaatttgcagCaccttgtttttgggattaag	7	6	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:26681809C>T	uc001mqt.3	+	27	2909	c.2764C>T	c.(2764-2766)CAC>TAC	p.H922Y	ANO3_uc010rdr.1_Missense_Mutation_p.H906Y|ANO3_uc010rds.1_Missense_Mutation_p.H761Y|ANO3_uc010rdt.1_Missense_Mutation_p.H776Y	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	922	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAATTTGCAGCACCTTGTTTT	0.363													T	26681809	C	T	26681809	3	4	233	1	0	0	0	0	1	0	0	0	698	724	25	2	2870	2	ANO3	11	26681809	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	9865341	26681809	108324707	99	117282											
ARHGAP1	392	broad.mit.edu	37	chr11	46702069	46702069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaggcaacagtctccctgAgtacaatgggaatgggctcc	12	10	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:46702069A>G	uc001ndd.2	-	9	857	c.788T>C	c.(787-789)CTC>CCC	p.L263P		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	263	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		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)		AGTCTCCCTGAGTACAATGGG	0.657													G	46702069	A	G	46702069	3	3	233	1	0	0	0	0	1	0	0	0	861	304	11	3	551	3	ARHGAP1	11	46702069	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	20020260	46702069	88304447	100	117283											
LRP4	4038	broad.mit.edu	37	chr11	46896499	46896499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatacgccggatggagccacGgctggagaagagcaggtagg	18	8	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:46896499G>A	uc001ndn.3	-	28	4227	c.4081C>T	c.(4081-4083)CGT>TGT	p.R1361C		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1361	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		ATGGAGCCACGGCTGGAGAAG	0.577													A	46896499	G	A	46896499	3	1	233	1	0	0	0	0	1	0	0	0	8959	1116	39	1	1680	1	LRP4	11	46896499	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	194430	46896499	88110017	101	117284											
MADD	8567	broad.mit.edu	37	chr11	47306680	47306680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatatggctttccccctgaGgaagatgaggatgagcaggg	14	8	0	4			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:47306680G>A	uc001ner.1	+	13	2537	c.2346G>A	c.(2344-2346)GAG>GAA	p.E782E	MADD_uc001neq.2_Silent_p.E782E|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Intron|MADD_uc001net.1_Silent_p.E782E|MADD_uc009yln.1_Intron|MADD_uc001neu.1_Intron|MADD_uc001nex.2_Silent_p.E782E|MADD_uc001nez.2_Intron|MADD_uc001new.2_Silent_p.E782E	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	782					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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TTCCCCCTGAGGAAGATGAGG	0.547													A	47306680	G	A	47306680	2	1	233	1	0	0	0	0	0	0	0	1	9152	991	35	4		4	MADD	11	47306680	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	410181	47306680	87699836	102	117285											
ESRRA	2101	broad.mit.edu	37	chr11	64082312	64082312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgatgggcacctcccagCcgtggctaccctctgtgacc	10	18	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:64082312C>T	uc001nzq.1	+	5	848	c.671C>T	c.(670-672)GCC>GTC	p.A224V	ESRRA_uc001nzr.1_Missense_Mutation_p.A223V|ESRRA_uc001nzs.1_Missense_Mutation_p.A224V|ESRRA_uc009ypn.1_Intron	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	224	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				0						CACCTCCCAGCCGTGGCTACC	0.622													T	64082312	C	T	64082312	3	4	233	1	0	0	0	0	1	0	0	0	5260	739	26	2	685	2	ESRRA	11	64082312	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	16775632	64082312	70924204	103	117286											
BRMS1	25855	broad.mit.edu	37	chr11	66107615	66107615	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagaggtgccttcttcCtcttgctgggcggcagggag	14	11	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:66107615C>G	uc001ohp.1	-	7	752	c.605G>C	c.(604-606)AGG>ACG	p.R202T	BRMS1_uc001oho.1_Missense_Mutation_p.R202T|BRMS1_uc009yre.2_Intron	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	202					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				0						TGCCTTCTTCCTCTTGCTGGG	0.582													G	66107615	C	G	66107615	3	3	233	1	0	0	0	0	1	0	0	0	1516	681	24	5	295	5	BRMS1	11	66107615	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2025303	66107615	68898901	104	117287											
ANO1	55107	broad.mit.edu	37	chr11	69999183	69999183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatcctagagctgaataCgaagccagagtcttggagaa	11	8	2	4			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:69999183C>T	uc001opj.2	+	14	1679	c.1374C>T	c.(1372-1374)TAC>TAT	p.Y458Y	ANO1_uc001opk.1_Silent_p.Y426Y|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.Y193Y	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	458	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GAGCTGAATACGAAGCCAGAG	0.443													T	69999183	C	T	69999183	2	4	233	1	0	0	0	0	0	0	0	1	695	547	19	1		1	ANO1	11	69999183	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	3891568	69999183	65007333	105	117288											
NAALAD2	10003	broad.mit.edu	37	chr11	89882277	89882277	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaggcatgccagaggTaaaataaaatacttttgtaa	8	7	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:89882277T>G	uc001pdf.3	+	4	592	c.483_splice	c.e4+2	p.E161_splice	NAALAD2_uc009yvx.2_Splice_Site_p.E161_splice|NAALAD2_uc009yvy.2_Splice_Site_p.E161_splice|NAALAD2_uc001pdd.2_Splice_Site_p.E161_splice|NAALAD2_uc001pde.2_Splice_Site_p.E161_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATGCCAGAGGTAAAATAAAAT	0.358													G	89882277	T	G	89882277	5	3	233	1	0	0	0	0	0	0	1	0	10128	1652	57	5	499	5	NAALAD2	11	89882277	Splice_Site	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	19883094	89882277	45124239	106	117289											
MED17	9440	broad.mit.edu	37	chr11	93529609	93529609	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatttctttgtgccattcctCaaatgataagaaatcccaaa	4	9	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:93529609C>G	uc001pem.3	+	7	1321	c.1046C>G	c.(1045-1047)TCA>TGA	p.S349*		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	349					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			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCCATTCCTCAAATGATAAG	0.358													G	93529609	C	G	93529609	4	3	233	1	0	0	0	0	0	1	0	0	9435	838	29	5	1072	5	MED17	11	93529609	Nonsense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	3647332	93529609	41476907	107	117290											
KDM4D	55693	broad.mit.edu	37	chr11	94731530	94731530	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcatcctgcaacctgaaCgctatgacctgtggaaacgt	10	12	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:94731530C>G	uc001pfe.2	+	3	1826	c.994C>G	c.(994-996)CGC>GGC	p.R332G		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	332					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				0						GCAACCTGAACGCTATGACCT	0.572													G	94731530	C	G	94731530	3	3	233	1	0	0	0	0	1	0	0	0	8131	536	19	5	996	5	KDM4D	11	94731530	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	1201921	94731530	40274986	108	117291											
DYNC2H1	79659	broad.mit.edu	37	chr11	103157000	103157000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagattgctctccccagtcTttatcagaccctctgctttg	6	13	4	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:103157000T>C	uc001pho.2	+	74	11051	c.10907T>C	c.(10906-10908)CTT>CCT	p.L3636P	DYNC2H1_uc001phn.1_Missense_Mutation_p.L3643P|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3636					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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTCCCCAGTCTTTATCAGACC	0.333													C	103157000	T	C	103157000	3	2	233	1	0	0	0	0	1	0	0	0	4846	1609	56	3	11226	3	DYNC2H1	11	103157000	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	8425470	103157000	31849516	109	117292											
ZBTB16	7704	broad.mit.edu	37	chr11	113934125	113934125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctggccgggactttgtgcGatgtggtcatcatggtggac	17	8	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:113934125G>A	uc001pop.2	+	2	367	c.103G>A	c.(103-105)GAT>AAT	p.D35N	ZBTB16_uc001poo.1_Missense_Mutation_p.D35N|ZBTB16_uc001poq.2_Missense_Mutation_p.D35N	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	35	BTB.				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)|skin(1)	2		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)		GACTTTGTGCGATGTGGTCAT	0.587													A	113934125	G	A	113934125	3	1	233	1	0	0	0	0	1	0	0	0	17523	1058	37	1	105	1	ZBTB16	11	113934125	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	10777125	113934125	21072391	110	117293											
FAM55D	54827	broad.mit.edu	37	chr11	114441753	114441753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatatgcaattgttatatcCcaggcatcaatgatactcac	5	11	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:114441753C>A	uc001ppc.2	-	6	1723	c.1542G>T	c.(1540-1542)TGG>TGT	p.W514C	FAM55D_uc001ppd.2_Missense_Mutation_p.W230C	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	514						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TTGTTATATCCCAGGCATCAA	0.323													A	114441753	C	A	114441753	3	1	233	1	0	0	0	0	1	0	0	0	5587	624	22	5	96	5	FAM55D	11	114441753	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	507628	114441753	20564763	111	117294											
SIDT2	51092	broad.mit.edu	37	chr11	117053270	117053270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgaaggcgtggactcGgtaattgtcaaggtgacctc	12	10	1	2	rs78302783	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr11:117053270G>A	uc001pqh.1	+	5	593	c.552G>A	c.(550-552)TCG>TCA	p.S184S	SIDT2_uc010rxe.1_Silent_p.S184S|SIDT2_uc001pqg.2_Silent_p.S184S|SIDT2_uc001pqi.1_Silent_p.S184S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	184	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	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)		GCGTGGACTCGGTAATTGTCA	0.547													A	117053270	G	A	117053270	2	1	233	1	0	0	0	0	0	0	0	1	14303	1103	39	1		1	SIDT2	11	117053270	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	2611517	117053270	17953246	112	117295											
AAAS	8086	broad.mit.edu	37	chr12	53701473	53701473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaagtacagcgggatgtGggcaattcggcctgtggacc	15	9	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:53701473G>A	uc001scr.3	-	16	1604	c.1441C>T	c.(1441-1443)CAC>TAC	p.H481Y	AAAS_uc001scs.3_Missense_Mutation_p.H448Y	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	481					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						AGCGGGATGTGGGCAATTCGG	0.582													A	53701473	G	A	53701473	3	1	233	1	0	0	0	0	1	0	0	0	8	1348	47	4	203	4	AAAS	12	53701473	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		53701473	80150422	113	117296											
ERBB3	2065	broad.mit.edu	37	chr12	56493687	56493687	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaaacaagaagctagaGgaagtagagctggagccaga	13	7	0	5			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:56493687G>C	uc001sjh.2	+	25	3196	c.3003G>C	c.(3001-3003)GAG>GAC	p.E1001D	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.E358D|ERBB3_uc010sqc.1_Missense_Mutation_p.E942D|ERBB3_uc009zok.2_Missense_Mutation_p.E266D|ERBB3_uc001sjk.2_Missense_Mutation_p.E242D|ERBB3_uc001sjl.2_Missense_Mutation_p.E121D	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1001	Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAAGCTAGAGGAAGTAGAGC	0.557													C	56493687	G	C	56493687	3	2	233	1	0	0	0	0	1	0	0	0	5208	991	35	5	3232	5	ERBB3	12	56493687	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	2792214	56493687	77358208	114	117297											
AGAP2	116986	broad.mit.edu	37	chr12	58128428	58128428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggaatcggtggatgagcGatgacttcccactcctggca	12	11	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:58128428G>A	uc001spq.2	-	3	1262	c.1262C>T	c.(1261-1263)TCG>TTG	p.S421L	AGAP2_uc001spp.2_Missense_Mutation_p.S421L|AGAP2_uc001spr.2_Missense_Mutation_p.S85L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	421	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			central_nervous_system(3)|breast(2)	5						GTGGATGAGCGATGACTTCCC	0.537													A	58128428	G	A	58128428	3	1	233	1	0	0	0	0	1	0	0	0	368	1059	37	1	2384	1	AGAP2	12	58128428	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1634741	58128428	75723467	115	117298											
AVPR1A	552	broad.mit.edu	37	chr12	63544532	63544532	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggcttcggcctcccggcTtgtgttgccagcgccggtgg	17	13	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:63544532T>G	uc001sro.1	-	1	2059	c.85A>C	c.(85-87)AGC>CGC	p.S29R		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	29	Extracellular (Potential).				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				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCCCGGCTTGTGTTGCCA	0.701													G	63544532	T	G	63544532	3	3	233	1	0	0	0	0	1	0	0	0	1231	1609	56	5	1179	5	AVPR1A	12	63544532	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	5416104	63544532	70307363	116	117299											
TRPV4	59341	broad.mit.edu	37	chr12	110222176	110222176	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatactggtaggtctcattCttgcccgggtcctcgttgat	10	10	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:110222176C>T	uc001tpj.1	-	14	2498	c.2403G>A	c.(2401-2403)AAG>AAA	p.K801K	TRPV4_uc001tpg.1_Silent_p.K767K|TRPV4_uc001tph.1_Silent_p.K754K|TRPV4_uc001tpi.1_Silent_p.K694K|TRPV4_uc001tpk.1_Silent_p.K801K|TRPV4_uc001tpl.1_Silent_p.K741K	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	801	Cytoplasmic (Potential).				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGGTCTCATTCTTGCCCGGGT	0.617													T	110222176	C	T	110222176	2	4	233	1	0	0	0	0	0	0	0	1	16595	912	32	4		4	TRPV4	12	110222176	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	46677644	110222176	23629719	117	117300											
SH2B3	10019	broad.mit.edu	37	chr12	111884621	111884621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccggtggtgcacacggcTtgagatgcctgacaaccttt	13	11	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:111884621T>C	uc001tse.2	+	3	1154	c.797T>C	c.(796-798)CTT>CCT	p.L266P	SH2B3_uc010syf.1_Missense_Mutation_p.L266P|SH2B3_uc001tsf.2_Missense_Mutation_p.L266P|SH2B3_uc010syg.1_Missense_Mutation_p.L64P	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	266	PH.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						TGCACACGGCTTGAGATGCCT	0.517													C	111884621	T	C	111884621	3	2	233	1	0	0	0	0	1	0	0	0	14229	1609	56	3	803	3	SH2B3	12	111884621	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	1662445	111884621	21967274	118	117301											
RILPL2	196383	broad.mit.edu	37	chr12	123915113	123915113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgacttgagtttgttgcGttcctgcagcacatccctta	9	12	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:123915113G>A	uc001uey.1	-	2	730	c.433C>T	c.(433-435)CGC>TGC	p.R145C		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	145	Potential.|RILP-like.					cytosol|plasma membrane	identical protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		AGTTTGTTGCGTTCCTGCAGC	0.592													A	123915113	G	A	123915113	3	1	233	1	0	0	0	0	1	0	0	0	13362	1145	40	1	214	1	RILPL2	12	123915113	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	12030492	123915113	9936782	119	117302											
NCOR2	9612	broad.mit.edu	37	chr12	124846808	124846808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcttggtgggagctgcGtcctcccgggggggctcatg	19	11	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr12:124846808G>A	uc010tba.1	-	22	3081	c.2964C>T	c.(2962-2964)GAC>GAT	p.D988D	NCOR2_uc010tay.1_Silent_p.D987D|NCOR2_uc010taz.1_Silent_p.D971D|NCOR2_uc010tbb.1_Silent_p.D988D|NCOR2_uc010tbc.1_Silent_p.D970D|NCOR2_uc001ugj.1_Silent_p.D988D	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	988					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			skin(3)|ovary(1)	4	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)		TGGGAGCTGCGTCCTCCCGGG	0.667													A	124846808	G	A	124846808	2	1	233	1	0	0	0	0	0	0	0	1	10236	1136	40	1		1	NCOR2	12	124846808	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	931695	124846808	9005087	120	117303											
TPTE2	93492	broad.mit.edu	37	chr13	20041372	20041372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtttcatacctgggaaTattcctaagcaacttaatgt	6	7	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:20041372T>C	uc001umd.2	-	8	716	c.505A>G	c.(505-507)ATT>GTT	p.I169V	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	169						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				0		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)		TACCTGGGAATATTCCTAAGC	0.284													C	20041372	T	C	20041372	3	2	233	1	0	0	0	0	1	0	0	0	16428	1406	49	3	1119	3	TPTE2	13	20041372	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08		20041372	95128506	121	117304											
XPO4	64328	broad.mit.edu	37	chr13	21401231	21401231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagctccataactctgCtgtccagaagagtctcccgc	8	13	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:21401231C>A	uc001unq.3	-	7	851	c.815G>T	c.(814-816)AGC>ATC	p.S272I		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	272					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		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)		CATAACTCTGCTGTCCAGAAG	0.428													A	21401231	C	A	21401231	3	1	233	1	0	0	0	0	1	0	0	0	17443	797	28	5	2708	5	XPO4	13	21401231	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	1359859	21401231	93768647	122	117305											
DCLK1	9201	broad.mit.edu	37	chr13	36379912	36379912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagcatcatggtaatgAgctcctgtgaaggggaacgt	12	9	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:36379912A>T	uc001uvf.2	-	15	2101	c.1868T>A	c.(1867-1869)CTC>CAC	p.L623H	DCLK1_uc001uve.3_Missense_Mutation_p.L316H|DCLK1_uc010teh.1_Missense_Mutation_p.L316H|DCLK1_uc010abk.2_Missense_Mutation_p.L143H	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	623	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			stomach(6)|ovary(2)|skin(1)	9		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)		CATGGTAATGAGCTCCTGTGA	0.413													T	36379912	A	T	36379912	3	4	233	1	0	0	0	0	1	0	0	0	4291	304	11	5	337	5	DCLK1	13	36379912	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	14978681	36379912	78789966	123	117306											
DCLK1	9201	broad.mit.edu	37	chr13	36686318	36686318	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggtgtactccagtttcttGaagggctctatggagccaca	11	9	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:36686318G>C	uc001uvf.2	-	3	644	c.411C>G	c.(409-411)TTC>TTG	p.F137L		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	137	Doublecortin 1.				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			stomach(6)|ovary(2)|skin(1)	9		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)		CCAGTTTCTTGAAGGGCTCTA	0.428													C	36686318	G	C	36686318	3	2	233	1	0	0	0	0	1	0	0	0	4291	1281	45	5	1842	5	DCLK1	13	36686318	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	306406	36686318	78483560	124	117307											
VPS36	51028	broad.mit.edu	37	chr13	52991205	52991205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatactgtctccagggccGaggccaccatttcctcttcc	7	17	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:52991205G>A	uc001vgs.2	-	12	1011	c.977C>T	c.(976-978)TCG>TTG	p.S326L	VPS36_uc001vgq.2_Missense_Mutation_p.S268L	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36	326					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		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;3.14e-08)		CTCCAGGGCCGAGGCCACCAT	0.483													A	52991205	G	A	52991205	3	1	233	1	0	0	0	0	1	0	0	0	17201	1059	37	1	195	1	VPS36	13	52991205	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	16304887	52991205	62178673	125	117308											
ITGBL1	9358	broad.mit.edu	37	chr13	102345019	102345019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgagtgtgatgatcgccGctgtgaagacctcgatggtg	15	7	0	5			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:102345019G>A	uc001vpb.2	+	8	1319	c.1100G>A	c.(1099-1101)CGC>CAC	p.R367H	ITGBL1_uc010agb.2_Missense_Mutation_p.R318H|ITGBL1_uc001vpc.3_Missense_Mutation_p.R226H	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	367	VII.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATGATCGCCGCTGTGAAGAC	0.473													A	102345019	G	A	102345019	3	1	233	1	0	0	0	0	1	0	0	0	7902	1087	38	1	1130	1	ITGBL1	13	102345019	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	49353814	102345019	12824859	126	117309											
TUBGCP3	10426	broad.mit.edu	37	chr13	113153436	113153436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcagctctgtatattgCatcttgagcattctgaagtt	9	8	3	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr13:113153436C>T	uc001vse.1	-	20	2558	c.2371G>A	c.(2371-2373)GCA>ACA	p.A791T	TUBGCP3_uc010tjq.1_Missense_Mutation_p.A781T|TUBGCP3_uc001vsf.2_Missense_Mutation_p.A791T	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	791					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)	1	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)					CTGTATATTGCATCTTGAGCA	0.358													T	113153436	C	T	113153436	3	4	233	1	0	0	0	0	1	0	0	0	16764	710	25	2	364	2	TUBGCP3	13	113153436	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	10808417	113153436	2016442	127	117310											
OR4N2	390429	broad.mit.edu	37	chr14	20296061	20296061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggctctgtggcttgggGgttttgtccactccattatc	12	9	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:20296061G>A	uc010tkv.1	+	1	454	c.454G>A	c.(454-456)GGT>AGT	p.G152S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGCTTGGGGGTTTTGTCCA	0.532													A	20296061	G	A	20296061	3	1	233	1	0	0	0	0	1	0	0	0	11077	1232	43	4	456	4	OR4N2	14	20296061	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		20296061	87053479	128	117311											
MYH7	4625	broad.mit.edu	37	chr14	23887594	23887594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgggccgactgcagtgCgtgggccagggcgttcttcg	17	12	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:23887594C>T	uc001wjx.2	-	30	4100	c.3994G>A	c.(3994-3996)GCA>ACA	p.A1332T	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1332	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACTGCAGTGCGTGGGCCAGG	0.657													T	23887594	C	T	23887594	3	4	233	1	0	0	0	0	1	0	0	0	10039	768	27	1	1857	1	MYH7	14	23887594	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	3591533	23887594	83461946	129	117312											
DHRS7	51635	broad.mit.edu	37	chr14	60616089	60616089	+	Frame_Shift_Del	DEL	C	C	-													accacaccactcttaaagttCtcaatccttttcttccccat							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:60616089delC	uc001xes.2	-	6	1138	c.954delG	c.(952-954)GAGfs	p.E318fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Frame_Shift_Del_p.E268fs|DHRS7_uc001xeu.2_Frame_Shift_Del_p.E318fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	318							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCTTAAAGTTCTCAATCCTTT	0.378													-	60616089	C	-	60616089	7	5	233	1	0	1	0	1	0	0	0	0	4495	912	32	0	73	0	DHRS7	14	60616089	Frame_Shift_Del	DEL	C	TCGA-EQ-8122-01A-11D-2340-08	36728495	60616089	46733451	130	117313											
TC2N	123036	broad.mit.edu	37	chr14	92258735	92258735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttgaaggtggtgttatAtccaaagagtaatccatttc	8	5	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:92258735A>G	uc001xzu.3	-	9	1214	c.1023T>C	c.(1021-1023)GAT>GAC	p.D341D	TC2N_uc001xzt.3_Silent_p.D341D|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Silent_p.D341D	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	341						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		GTGGTGTTATATCCAAAGAGT	0.358													G	92258735	A	G	92258735	2	3	233	1	0	0	0	0	0	0	0	1	15662	446	16	3		3	TC2N	14	92258735	Silent	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	31642646	92258735	15090805	131	117314											
CDC42BPB	9578	broad.mit.edu	37	chr14	103429456	103429456	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttccatttcttctaaTaattctctgtttttggcttc	3	8	3	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr14:103429456T>A	uc001ymi.1	-	20	2995	c.2763A>T	c.(2761-2763)TTA>TTT	p.L921F	CDC42BPB_uc001ymj.1_Missense_Mutation_p.L49F	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	921	Potential.				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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTCTTCTAATAATTCTCTGT	0.328													A	103429456	T	A	103429456	3	1	233	1	0	0	0	0	1	0	0	0	3073	1403	49	5	2444	5	CDC42BPB	14	103429456	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	11170721	103429456	3920084	132	117315											
TGM7	116179	broad.mit.edu	37	chr15	43572146	43572146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agacagctctctcctcagggGatcctgcagaagggagaggt	14	10	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:43572146G>T	uc001zrf.1	-	10	1360	c.1355C>A	c.(1354-1356)TCC>TAC	p.S452Y		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	452					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTCCTCAGGGGATCCTGCAGA	0.572													T	43572146	G	T	43572146	3	4	233	1	0	0	0	0	1	0	0	0	15832	1174	41	5	793	5	TGM7	15	43572146	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		43572146	58959246	133	117316											
ATP8B4	79895	broad.mit.edu	37	chr15	50339641	50339641	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtgagaatattatatttCgatgtgtggatacgattatc	10	3	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:50339641C>T	uc001zxu.2	-	4	250	c.108G>A	c.(106-108)TCG>TCA	p.S36S	ATP8B4_uc010ber.2_5'UTR|ATP8B4_uc010ufd.1_5'UTR|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	36	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TATTATATTTCGATGTGTGGA	0.358													T	50339641	C	T	50339641	2	4	233	1	0	0	0	0	0	0	0	1	1197	871	31	1		1	ATP8B4	15	50339641	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	6767495	50339641	52191751	134	117317											
VPS13C	54832	broad.mit.edu	37	chr15	62273584	62273584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagatctgacttttcaTggtggaaacccgtctgtgga	11	8	4	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:62273584T>G	uc002agz.2	-	22	2197	c.2123A>C	c.(2122-2124)CAT>CCT	p.H708P	VPS13C_uc002aha.2_Missense_Mutation_p.H665P|VPS13C_uc002ahb.1_Missense_Mutation_p.H708P|VPS13C_uc002ahc.1_Missense_Mutation_p.H665P	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	708					protein localization					ovary(2)	2						TGACTTTTCATGGTGGAAACC	0.368													G	62273584	T	G	62273584	3	3	233	1	0	0	0	0	1	0	0	0	17188	1464	51	5	9422	5	VPS13C	15	62273584	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	11933943	62273584	40257808	135	117318											
DAPK2	23604	broad.mit.edu	37	chr15	64332386	64332386	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctccccagctcctctccGatgtcataaaagtcctccac	4	18	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr15:64332386G>A	uc002amr.2	-	2	106	c.75C>T	c.(73-75)ATC>ATT	p.I25I	DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_Silent_p.I15I	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	25	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		GCTCCTCTCCGATGTCATAAA	0.522													A	64332386	G	A	64332386	2	1	233	1	0	0	0	0	0	0	0	1	4236	1048	37	1		1	DAPK2	15	64332386	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	2058802	64332386	38199006	136	117319											
MVP	9961	broad.mit.edu	37	chr16	29858617	29858617	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaaggctcagcagctggctGaggtggaggtgaagaagttc	17	7	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:29858617G>A	uc002dui.2	+	14	2449	c.2365G>A	c.(2365-2367)GAG>AAG	p.E789K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.E789K|MVP_uc010vea.1_Missense_Mutation_p.E383K	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	789					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GCAGCTGGCTGAGGTGGAGGT	0.617													A	29858617	G	A	29858617	3	1	233	1	0	0	0	0	1	0	0	0	9996	1291	45	4	2415	4	MVP	16	29858617	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		29858617	60496136	137	117320											
ZNF747	65988	broad.mit.edu	37	chr16	30545794	30545794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgcccaggtggccgtaGgtctcccgcatcacgtcccg	13	17	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:30545794G>A	uc002dyn.2	-	1	401	c.207C>T	c.(205-207)ACC>ACT	p.T69T	ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Silent_p.T69T|ZNF747_uc010vey.1_Silent_p.T69T|uc002dyp.1_5'Flank	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN	zinc finger protein 747	69	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0						GGTGGCCGTAGGTCTCCCGCA	0.726													A	30545794	G	A	30545794	2	1	233	1	0	0	0	0	0	0	0	1	18127	987	35	4		4	ZNF747	16	30545794	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	687177	30545794	59808959	138	117321											
EXOC3L	283849	broad.mit.edu	37	chr16	67220250	67220250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatcagagcatcactgaaGctgcaatgggcagaggtggc	15	9	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:67220250G>A	uc002erx.1	-	9	1627	c.1386C>T	c.(1384-1386)AGC>AGT	p.S462S	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Silent_p.S113S|EXOC3L_uc002ery.1_Silent_p.S364S|EXOC3L_uc010vje.1_Silent_p.S359S	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	462					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CATCACTGAAGCTGCAATGGG	0.582											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	67220250	G	A	67220250	2	1	233	1	0	0	0	0	0	0	0	1	5304	985	34	2		2	EXOC3L	16	67220250	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	36674456	67220250	23134503	139	117322											
ST3GAL2	6483	broad.mit.edu	37	chr16	70432202	70432202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtcggaggcaccggcatCgcccatgcagcggcgacagg	15	15	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:70432202C>T	uc002eyw.2	-	1	2340	c.232G>A	c.(232-234)GAT>AAT	p.D78N	ST3GAL2_uc002eyx.2_Missense_Mutation_p.D78N	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	78	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GCACCGGCATCGCCCATGCAG	0.642													T	70432202	C	T	70432202	3	4	233	1	0	0	0	0	1	0	0	0	15214	884	31	1	844	1	ST3GAL2	16	70432202	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	3211952	70432202	19922551	140	117323											
ZFHX3	463	broad.mit.edu	37	chr16	72822033	72822033	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgtagttgcCgctgctgctgctgctgaatt	13	11	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:72822033C>G	uc002fck.2	-	10	10815	c.10142G>C	c.(10141-10143)CGG>CCG	p.R3381P	ZFHX3_uc002fcl.2_Missense_Mutation_p.R2467P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3381	Poly-Gln.		Missing.		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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ctgtagttgccgctgctgctg	0.433													G	72822033	C	G	72822033	3	3	233	1	0	0	0	0	1	0	0	0	17631	652	23	5	973	5	ZFHX3	16	72822033	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2389831	72822033	17532720	141	117324											
WDR59	79726	broad.mit.edu	37	chr16	74990459	74990459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggcgagagatctttcGgtgaccttcgaaaggggcat	14	9	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:74990459G>A	uc002fdh.1	-	3	256	c.154C>T	c.(154-156)CGA>TGA	p.R52*	WDR59_uc002fdi.2_Nonsense_Mutation_p.R52*|WDR59_uc002fdj.2_Nonsense_Mutation_p.R52*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	52										ovary(1)|breast(1)	2						GAGATCTTTCGGTGACCTTCG	0.428													A	74990459	G	A	74990459	4	1	233	1	0	0	0	0	0	1	0	0	17305	1124	39	1	2866	1	WDR59	16	74990459	Nonsense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	2168426	74990459	15364294	142	117325											
HSD17B2	3294	broad.mit.edu	37	chr16	82131837	82131837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcaaggacttctctccGgtgctgcgggacatccagca	12	14	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:82131837G>A	uc002fgv.2	+	5	1132	c.960G>A	c.(958-960)CCG>CCA	p.P320P		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	320					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			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	ACTTCTCTCCGGTGCTGCGGG	0.527													A	82131837	G	A	82131837	2	1	233	1	0	0	0	0	0	0	0	1	7384	1103	39	1		1	HSD17B2	16	82131837	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	7141378	82131837	8222916	143	117326											
CTU2	348180	broad.mit.edu	37	chr16	88779791	88779791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggggacagctgcacacGcttggctatcaagctcatga	12	11	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr16:88779791G>A	uc002flm.2	+	8	857	c.809G>A	c.(808-810)CGC>CAC	p.R270H	CTU2_uc002fln.2_Missense_Mutation_p.R270H|CTU2_uc010chz.2_Missense_Mutation_p.R341H|CTU2_uc010cia.2_Missense_Mutation_p.R183H	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	270					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						AGCTGCACACGCTTGGCTATC	0.637													A	88779791	G	A	88779791	3	1	233	1	0	0	0	0	1	0	0	0	4048	1087	38	1	839	1	CTU2	16	88779791	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	6647954	88779791	1574962	144	117327											
VPS53	55275	broad.mit.edu	37	chr17	613826	613826	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagcattgaaatctgctcGatctagagggtcctggcttg	11	9	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:613826G>A	uc002frn.2	-	2	262	c.115C>T	c.(115-117)CGA>TGA	p.R39*	VPS53_uc010cjo.1_Nonsense_Mutation_p.R39*|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Nonsense_Mutation_p.R39*|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Nonsense_Mutation_p.R39*	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	39					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AAATCTGCTCGATCTAGAGGG	0.323													A	613826	G	A	613826	4	1	233	1	0	0	0	0	0	1	0	0	17212	1066	37	1	2482	1	VPS53	17	613826	Nonsense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		613826	80581384	145	117328											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Frame_Shift_Del	DEL	C	C	-													gcacctcaaagctgttccgtCccagtagattaccactactc							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:7577141delC	uc002gim.2	-	8	991	c.797delG	c.(796-798)GGAfs	p.G266fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.G266fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G134fs|TP53_uc010cng.1_Frame_Shift_Del_p.G134fs|TP53_uc002gii.1_Frame_Shift_Del_p.G134fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G266fs|TP53_uc010cni.1_Frame_Shift_Del_p.G266fs|TP53_uc002gij.2_Frame_Shift_Del_p.G266fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	266	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(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.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7577141	C	-	7577141	7	5	233	1	0	1	0	1	0	0	0	0	16378	855	30	0	489	0	TP53	17	7577141	Frame_Shift_Del	DEL	C	TCGA-EQ-8122-01A-11D-2340-08	6963315	7577141	73618069	146	117329											
NOS2	4843	broad.mit.edu	37	chr17	26110016	26110016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcagcgtggggcattgCgccaggcctgcttggtggcg	17	11	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:26110016C>T	uc002gzu.2	-	6	848	c.584G>A	c.(583-585)CGC>CAC	p.R195H	NOS2_uc010crh.1_Missense_Mutation_p.R195H|NOS2_uc010wab.1_Missense_Mutation_p.R195H	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	195					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			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TGGGGCATTGCGCCAGGCCTG	0.587													T	26110016	C	T	26110016	3	4	233	1	0	0	0	0	1	0	0	0	10543	768	27	1	2965	1	NOS2	17	26110016	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	18532875	26110016	55085194	147	117330											
MRM1	79922	broad.mit.edu	37	chr17	34958270	34958270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaccgtccggggcgcgAcctggggtcgcctcgtcacc	14	17	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:34958270A>G	uc002hne.2	+	1	246	c.31A>G	c.(31-33)ACC>GCC	p.T11A	MRM1_uc002hnf.2_5'Flank	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	11					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCGGGGCGCGACCTGGGGTCG	0.697													G	34958270	A	G	34958270	3	3	233	1	0	0	0	0	1	0	0	0	9771	275	10	3	33	3	MRM1	17	34958270	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	8848254	34958270	46236940	148	117331											
GPR179	440435	broad.mit.edu	37	chr17	36485646	36485646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctggggctccttcactcGtctcccaggggcagatttcg	11	14	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:36485646G>A	uc002hpz.2	-	11	3827	c.3806C>T	c.(3805-3807)ACG>ATG	p.T1269M		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1269	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCTTCACTCGTCTCCCAGGG	0.582													A	36485646	G	A	36485646	3	1	233	1	0	0	0	0	1	0	0	0	6674	1145	40	1	3301	1	GPR179	17	36485646	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1527376	36485646	44709564	149	117332											
GSDMB	55876	broad.mit.edu	37	chr17	38065247	38065254	+	Frame_Shift_Del	DEL	CTCGATAG	CTCGATAG	-													ggggaagacaagctgctttaCtcgatagctcaggacccgat					rs139970728		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38065246_38065253ACTCGATAG>A	uc010cwj.3	-	4	750_757	c.619_626CTATCGAGT>T	c.(619-627)tatcgagtafs	p.Y207fs	GSDMB_uc010cwi.3_5'Flank|GSDMB_uc010cwl.3_Intron|GSDMB_uc010cwm.3_Intron|GSDMB_uc010cwk.3_Intron|GSDMB_uc002htg.3_Frame_Shift_Del_p.Y207fs|GSDMB_uc002hth.3_Frame_Shift_Del_p.Y207fs|GSDMB_uc010wem.2_Frame_Shift_Del_p.Y207fs	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	207						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						AAGCTGCTTTACTCGATAGCTCAGGACC	0.534													-	38065254	CTCGATAG	-	38065247	7	5	233	1	0	1	0	1	0	0	0	0	6817	565	20	0	653	0	GSDMB	17	38065247	Frame_Shift_Del	DEL	CTCGATAG	TCGA-EQ-8122-01A-11D-2340-08	1579601	38065247	43129963	150	117333											
CASC3	22794	broad.mit.edu	37	chr17	38318390	38318390	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgatcttcgagggcaaactCaggaggaggaagtcaggtaa	14	6	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38318390C>T	uc010cwt.1	+	5	887	c.592C>T	c.(592-594)CAG>TAG	p.Q198*	CASC3_uc010cws.1_Nonsense_Mutation_p.Q198*|CASC3_uc002hue.2_Nonsense_Mutation_p.Q198*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	198	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			ovary(1)	1						AGGGCAAACTCAGGAGGAGGA	0.348													T	38318390	C	T	38318390	4	4	233	1	0	0	0	0	0	1	0	0	2661	827	29	4	610	4	CASC3	17	38318390	Nonsense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	253143	38318390	42876820	151	117334			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38319064	38319064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgagcaggccccaaagtCccgacaggagctcattgctc	11	13	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38319064C>T	uc010cwt.1	+	6	990	c.695C>T	c.(694-696)TCC>TTC	p.S232F	CASC3_uc010cws.1_Missense_Mutation_p.S232F|CASC3_uc002hue.2_Missense_Mutation_p.S232F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	232	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			ovary(1)	1						GCCCCAAAGTCCCGACAGGAG	0.512													T	38319064	C	T	38319064	3	4	233	1	0	0	0	0	1	0	0	0	2661	855	30	4	717	4	CASC3	17	38319064	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	674	38319064	42876146	152	117335			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38319117	38319117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattcgctcagctcataatCctgatgacatcaaacctcga	5	13	3	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38319117C>T	uc010cwt.1	+	6	1043	c.748C>T	c.(748-750)CCT>TCT	p.P250S	CASC3_uc010cws.1_Missense_Mutation_p.P250S|CASC3_uc002hue.2_Missense_Mutation_p.P250S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	250	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			ovary(1)	1						AGCTCATAATCCTGATGACAT	0.458													T	38319117	C	T	38319117	3	4	233	1	0	0	0	0	1	0	0	0	2661	855	30	4	770	4	CASC3	17	38319117	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	53	38319117	42876093	153	117336			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38323756	38323757	+	Nonsense_Mutation	DNP	CC	CC	TT													ctttctttgtctcagggtgtCcagggtggtcgagccaaacg							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323756_38323757CC>TT	uc010cwt.1	+	9	1837_1838	c.1542_1543CC>TT	c.(1540-1545)GTCCAG>GTTTAG	p.Q515*	CASC3_uc002hue.2_Nonsense_Mutation_p.Q515*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	515	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CTCAGGGTGTCCAGGGTGGTCG	0.49													TT	38323757	CC	TT	38323756	4	4	233	1	0	0	0	0	0	1	0	0	2661	842	30	4	1576	4	CASC3	17	38323756	Nonsense_Mutation	DNP	CC	TCGA-EQ-8122-01A-11D-2340-08	4639	38323756	42871454	154	117337			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38323782	38323782	+	Missense_Mutation	SNP	C	C	T													tggtcgagccaaacgctattCatcccagcggcaaagacctg							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323782C>T	uc010cwt.1	+	9	1863	c.1568C>T	c.(1567-1569)TCA>TTA	p.S523L	CASC3_uc002hue.2_Missense_Mutation_p.S523L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	523	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						AAACGCTATTCATCCCAGCGG	0.493													T	38323782	C	T	38323782	3	4	233	1	0	0	0	0	1	0	0	0	2661	838	29	4	1602	4	CASC3	17	38323782	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	26	38323782	42871428	155	117338	561	2	1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38323785	38323785	+	Missense_Mutation	SNP	C	C	T													tcgagccaaacgctattcatCccagcggcaaagacctgtgc							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323785C>T	uc010cwt.1	+	9	1866	c.1571C>T	c.(1570-1572)TCC>TTC	p.S524F	CASC3_uc002hue.2_Missense_Mutation_p.S524F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	524	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CGCTATTCATCCCAGCGGCAA	0.493													T	38323785	C	T	38323785	3	4	233	1	0	0	0	0	1	0	0	0	2661	855	30	4	1605	4	CASC3	17	38323785	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	3	38323785	42871425	156	117339	561	2	1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38323834	38323834	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccgcccctccagtgcatatCagtatcatggagggacatta	9	13	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323834C>T	uc010cwt.1	+	9	1915	c.1620C>T	c.(1618-1620)ATC>ATT	p.I540I	CASC3_uc002hue.2_Silent_p.I540I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	540	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CAGTGCATATCAGTATCATGG	0.517													T	38323834	C	T	38323834	2	4	233	1	0	0	0	0	0	0	0	1	2661	816	29	4		4	CASC3	17	38323834	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	49	38323834	42871376	157	117340			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38323862	38323862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagggacattactatgatCcacgtgagttttttcttact	9	7	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38323862C>T	uc010cwt.1	+	9	1943	c.1648C>T	c.(1648-1650)CCA>TCA	p.P550S	CASC3_uc002hue.2_Missense_Mutation_p.P550S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	550	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						TTACTATGATCCACGTGAGTT	0.502													T	38323862	C	T	38323862	3	4	233	1	0	0	0	0	1	0	0	0	2661	855	30	4	1682	4	CASC3	17	38323862	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	28	38323862	42871348	158	117341			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38324513	38324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcctctatcccccacCagtgtccatgtctccaggac	7	18	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38324513C>T	uc010cwt.1	+	11	2103	c.1808C>T	c.(1807-1809)CCA>CTA	p.P603L	CASC3_uc002hue.2_Missense_Mutation_p.P603L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	603	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						TATCCCCCACCAGTGTCCATG	0.488											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324513	C	T	38324513	3	4	233	1	0	0	0	0	1	0	0	0	2661	594	21	4	1850	4	CASC3	17	38324513	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	651	38324513	42870697	159	117342			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38324586	38324586	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacttttctgctccaggcgtCatgaactttggtaatcccag	8	11	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38324586C>T	uc010cwt.1	+	11	2176	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V	CASC3_uc002hue.2_Silent_p.V627V	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	627	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CTCCAGGCGTCATGAACTTTG	0.542											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324586	C	T	38324586	2	4	233	1	0	0	0	0	0	0	0	1	2661	813	29	4		4	CASC3	17	38324586	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	73	38324586	42870624	160	117343			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38324639	38324639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggggcactgcctccccCaccaccgcctcatctgtatc	7	20	2	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38324639C>T	uc010cwt.1	+	11	2229	c.1934C>T	c.(1933-1935)CCA>CTA	p.P645L	CASC3_uc002hue.2_Missense_Mutation_p.P645L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	645	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				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			ovary(1)	1						CTGCCTCCCCCACCACCGCCT	0.478											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38324639	C	T	38324639	3	4	233	1	0	0	0	0	1	0	0	0	2661	594	21	4	1976	4	CASC3	17	38324639	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	53	38324639	42870571	161	117344			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38325584	38325584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggggtcccaggccccatCacaggtatatggaggagtga	15	9	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38325584C>T	uc010cwt.1	+	12	2268	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L	CASC3_uc002hue.2_Missense_Mutation_p.S658L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	658	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CAGGCCCCATCACAGGTATAT	0.517													T	38325584	C	T	38325584	3	4	233	1	0	0	0	0	1	0	0	0	2661	838	29	4	2019	4	CASC3	17	38325584	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	945	38325584	42869626	162	117345			1	56		13	12	7292	N	CC_C	1.029596e-22
CASC3	22794	broad.mit.edu	37	chr17	38325681	38325681	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccccagccagtcaccatCaagccccctccacctgaggt	6	20	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38325681C>T	uc010cwt.1	+	12	2365	c.2070C>T	c.(2068-2070)ATC>ATT	p.I690I	CASC3_uc002hue.2_Silent_p.I690I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	690	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CAGTCACCATCAAGCCCCCTC	0.557													T	38325681	C	T	38325681	2	4	233	1	0	0	0	0	0	0	0	1	2661	816	29	4		4	CASC3	17	38325681	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	97	38325681	42869529	163	117346			1	56		13	12	7292	N	CC_C	1.029596e-22
CDC6	990	broad.mit.edu	37	chr17	38458232	38458232	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagctttaattggaaatatCttagctactggattgcctta	7	6	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:38458232C>G	uc002huj.1	+	12	1872	c.1662C>G	c.(1660-1662)ATC>ATG	p.I554M		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	554					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			ovary(2)|breast(1)	3						TTGGAAATATCTTAGCTACTG	0.358													G	38458232	C	G	38458232	3	3	233	1	0	0	0	0	1	0	0	0	3083	903	32	5	1704	5	CDC6	17	38458232	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	132551	38458232	42736978	164	117347											
HAP1	9001	broad.mit.edu	37	chr17	39888482	39888482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctccccacccggttacCtcctccttggctgagcccag	7	20	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:39888482C>T	uc002hxm.1	-	3	726	c.714G>A	c.(712-714)GAG>GAA	p.E238E	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.E238E|HAP1_uc002hxo.1_Silent_p.E246E|HAP1_uc002hxp.1_Silent_p.E238E	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	238	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGGTTACCTCCTCCTTGG	0.602													T	39888482	C	T	39888482	2	4	233	1	0	0	0	0	0	0	0	1	6953	695	24	4		4	HAP1	17	39888482	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	1430250	39888482	41306728	165	117348											
HAP1	9001	broad.mit.edu	37	chr17	39890671	39890671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccttggctccagcctcCgaggccgggcgagctccggt	14	17	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:39890671C>T	uc002hxm.1	-	1	228	c.216G>A	c.(214-216)TCG>TCA	p.S72S	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S72S|HAP1_uc002hxo.1_Silent_p.S72S|HAP1_uc002hxp.1_Silent_p.S72S	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	72					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCAGCCTCCGAGGCCGGGC	0.697													T	39890671	C	T	39890671	2	4	233	1	0	0	0	0	0	0	0	1	6953	639	23	1		1	HAP1	17	39890671	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2189	39890671	41304539	166	117349											
KLHL10	317719	broad.mit.edu	37	chr17	39998198	39998198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaccgtgcctatcacaccGgacaatgtggagaaactgct	11	12	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:39998198G>A	uc010cxr.2	+	2	460	c.318G>A	c.(316-318)CCG>CCA	p.P106P	KLHL10_uc010wfv.1_Silent_p.P100P|KLHL10_uc010wfw.1_Silent_p.P18P	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	106	BTB.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				CTATCACACCGGACAATGTGG	0.483													A	39998198	G	A	39998198	2	1	233	1	0	0	0	0	0	0	0	1	8366	1103	39	1		1	KLHL10	17	39998198	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	107527	39998198	41197012	167	117350											
KLHL10	317719	broad.mit.edu	37	chr17	40001590	40001590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctctttgcaattggtggctgGagtggtgggagccccaccaa	14	10	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:40001590G>T	uc010cxr.2	+	3	1039	c.897G>T	c.(895-897)TGG>TGT	p.W299C	KLHL10_uc010wfv.1_Missense_Mutation_p.W293C|KLHL10_uc010wfw.1_Missense_Mutation_p.W211C	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	299	Kelch 1.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				TTGGTGGCTGGAGTGGTGGGA	0.527													T	40001590	G	T	40001590	3	4	233	1	0	0	0	0	1	0	0	0	8366	1183	41	5	907	5	KLHL10	17	40001590	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	3392	40001590	41193620	168	117351											
ACBD4	79777	broad.mit.edu	37	chr17	43220904	43220904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccttcgtcgtccagtGgctcttccgaatgtttcgga	12	12	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:43220904G>A	uc002iif.2	+	10	1228	c.884G>A	c.(883-885)TGG>TAG	p.W295*	ACBD4_uc010wjj.1_Missense_Mutation_p.G308S|ACBD4_uc002iie.2_Missense_Mutation_p.G308S|ACBD4_uc002iic.2_Nonsense_Mutation_p.W295*|ACBD4_uc010dae.2_Missense_Mutation_p.G230S	NM_001135705	NP_001129177	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	Error:Variant_position_missing_in_Q8NC06_after_alignment							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						GTCGTCCAGTGGCTCTTCCGA	0.637													A	43220904	G	A	43220904	4	1	233	1	0	0	0	0	0	1	0	0	124	1357	47	4	988	4	ACBD4	17	43220904	Nonsense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	3219314	43220904	37974306	169	117352											
AZI1	22994	broad.mit.edu	37	chr17	79167790	79167790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgctccagctgctcccGcagctcctcggcctggcgca	10	21	0	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr17:79167790G>A	uc002jzp.1	-	18	2466	c.2266C>T	c.(2266-2268)CGG>TGG	p.R756W	AZI1_uc002jzm.1_Missense_Mutation_p.R183W|AZI1_uc002jzn.1_Missense_Mutation_p.R753W|AZI1_uc002jzo.1_Missense_Mutation_p.R753W|AZI1_uc010wum.1_Missense_Mutation_p.R756W|AZI1_uc002jzq.2_5'UTR	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	756					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCTGCTCCCGCAGCTCCTCG	0.731													A	79167790	G	A	79167790	3	1	233	1	0	0	0	0	1	0	0	0	1240	1086	38	1	1021	1	AZI1	17	79167790	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	35946886	79167790	2027420	170	117353											
LAMA1	284217	broad.mit.edu	37	chr18	7044734	7044734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgaccttcacatgtattGccggaggacacggttcccgg	11	12	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:7044734G>A	uc002knm.2	-	7	1057	c.963C>T	c.(961-963)GGC>GGT	p.G321G	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	321	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATGTATTGCCGGAGGACA	0.468													A	7044734	G	A	7044734	2	1	233	1	0	0	0	0	0	0	0	1	8605	1306	46	2		2	LAMA1	18	7044734	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		7044734	71032514	171	117354											
KIAA0802	23255	broad.mit.edu	37	chr18	8813126	8813126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggcagatccatcacagCgagaagaactggaaccggga	13	11	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:8813126C>T	uc002knr.2	+	12	2896	c.2754C>T	c.(2752-2754)AGC>AGT	p.S918S	KIAA0802_uc002knq.2_Silent_p.S877S|KIAA0802_uc002kns.2_Silent_p.S286S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1228											0						TCCATCACAGCGAGAAGAACT	0.577													T	8813126	C	T	8813126	2	4	233	1	0	0	0	0	0	0	0	1	8194	767	27	1		1	KIAA0802	18	8813126	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	1768392	8813126	69264122	172	117355											
DSG1	1828	broad.mit.edu	37	chr18	28914024	28914024	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actctaaattcaaatttgctCgagattagagtaattgattt	6	5	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:28914024C>T	uc002kwp.2	+	8	1076	c.864C>T	c.(862-864)CTC>CTT	p.L288L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	288	Extracellular (Potential).|Cadherin 3.				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			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAAATTTGCTCGAGATTAGAG	0.328													T	28914024	C	T	28914024	2	4	233	1	0	0	0	0	0	0	0	1	4776	871	31	1		1	DSG1	18	28914024	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	20100898	28914024	49163224	173	117356											
MEX3C	51320	broad.mit.edu	37	chr18	48703233	48703233	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagtcaactgctaggtcttCtgagcctacagatggtagtg	12	8	3	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:48703233C>T	uc002lfc.3	-	2	1468	c.1468G>A	c.(1468-1470)GAA>AAA	p.E490K		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	490						cytoplasm|nucleus	RNA binding|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GCTAGGTCTTCTGAGCCTACA	0.458													T	48703233	C	T	48703233	3	4	233	1	0	0	0	0	1	0	0	0	9511	922	32	4	515	4	MEX3C	18	48703233	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	19789209	48703233	29374015	174	117357											
NETO1	81832	broad.mit.edu	37	chr18	70526079	70526079	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaggtgtgaaattgtatcGagctgaaaatcccatagatt	9	7	0	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr18:70526079G>A	uc002lkw.2	-	4	735	c.451C>T	c.(451-453)CGA>TGA	p.R151*	NETO1_uc002lkx.1_Nonsense_Mutation_p.R150*|NETO1_uc002lky.1_Nonsense_Mutation_p.R151*|NETO1_uc002lkz.2_Nonsense_Mutation_p.R150*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	151	CUB 1.|Extracellular (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAATTGTATCGAGCTGAAAAT	0.328													A	70526079	G	A	70526079	4	1	233	1	0	0	0	0	0	1	0	0	10339	1066	37	1	1187	1	NETO1	18	70526079	Nonsense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	21822846	70526079	7551169	175	117358											
MUC16	94025	broad.mit.edu	37	chr19	9068981	9068981	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaggacctgtttgtgtggcGatggtcttgtgtgtagatat	15	4	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:9068981G>A	uc002mkp.2	-	3	18669	c.18465C>T	c.(18463-18465)ATC>ATT	p.I6155I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6157	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTGTGTGGCGATGGTCTTGT	0.512													A	9068981	G	A	9068981	2	1	233	1	0	0	0	0	0	0	0	1	9973	1048	37	1		1	MUC16	19	9068981	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		9068981	50060002	176	117359											
LPHN1	22859	broad.mit.edu	37	chr19	14273897	14273897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgatgaccgtctccccgCtcttgatgcgcgtccgtagg	11	13	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:14273897C>T	uc010xnn.1	-	6	1027	c.731G>A	c.(730-732)AGC>AAC	p.S244N	LPHN1_uc010xno.1_Missense_Mutation_p.S239N|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	244	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CGTCTCCCCGCTCTTGATGCG	0.592													T	14273897	C	T	14273897	3	4	233	1	0	0	0	0	1	0	0	0	8915	797	28	2	3769	2	LPHN1	19	14273897	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	5204916	14273897	44855086	177	117360											
RAB8A	4218	broad.mit.edu	37	chr19	16243039	16243039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaggcaacagcccccaGgggagcaaccagggagtcaa	14	12	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:16243039G>A	uc002ndn.3	+	8	771	c.549G>A	c.(547-549)CAG>CAA	p.Q183Q	HSH2D_uc002ndp.3_5'Flank|RAB8A_uc010xpc.1_Missense_Mutation_p.G177R|RAB8A_uc002ndo.3_Missense_Mutation_p.G62R	NM_005370	NP_005361	P61006	RAB8A_HUMAN	mel transforming oncogene	183				LEGNSPQ -> WKATAP (in Ref. 2; AAB19681).	cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			skin(1)	1						ACAGCCCCCAGGGGAGCAACC	0.443													A	16243039	G	A	16243039	2	1	233	1	0	0	0	0	0	0	0	1	12956	991	35	4		4	RAB8A	19	16243039	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1969142	16243039	42885944	178	117361											
PLVAP	83483	broad.mit.edu	37	chr19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctccaccttctgtttcGcctcctgactggcccgcagg	8	18	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:17476312G>A	uc002ngk.1	-	3	1012	c.962C>T	c.(961-963)GCG>GTG	p.A321V		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTTCTGTTTCGCCTCCTGACT	0.667													A	17476312	G	A	17476312	3	1	233	1	0	0	0	0	1	0	0	0	12116	1087	38	1	382	1	PLVAP	19	17476312	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1233273	17476312	41652671	179	117362											
SLC7A9	11136	broad.mit.edu	37	chr19	33333149	33333149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcaggccataaaacagCcatgcggcaaagctgaaata	9	10	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:33333149C>G	uc002ntv.3	-	11	1266	c.1149G>C	c.(1147-1149)TGG>TGC	p.W383C	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.W383C|SLC7A9_uc002ntw.3_Missense_Mutation_p.W174C	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	383	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CATAAAACAGCCATGCGGCAA	0.423													G	33333149	C	G	33333149	3	3	233	1	0	0	0	0	1	0	0	0	14705	740	26	5	326	5	SLC7A9	19	33333149	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	15856837	33333149	25795834	180	117363											
LSM14A	26065	broad.mit.edu	37	chr19	34706038	34706038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttacattttaggtcgctcaaGccctcagttagaccctttga	7	11	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:34706038G>C	uc002nvb.3	+	5	744	c.548G>C	c.(547-549)AGC>ACC	p.S183T	LSM14A_uc002nva.3_Missense_Mutation_p.S183T|LSM14A_uc010xru.1_Missense_Mutation_p.S142T|LSM14A_uc002nvc.3_5'UTR	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	183					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					GGTCGCTCAAGCCCTCAGTTA	0.433													C	34706038	G	C	34706038	3	2	233	1	0	0	0	0	1	0	0	0	9054	971	34	5	566	5	LSM14A	19	34706038	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1372889	34706038	24422945	181	117364											
ACTN4	81	broad.mit.edu	37	chr19	39207822	39207822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagctggaggacttccgcGactaccggcgtgtgcacaag	14	11	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:39207822G>A	uc002oja.1	+	10	1068	c.1009G>A	c.(1009-1011)GAC>AAC	p.D337N	ACTN4_uc010egc.1_Missense_Mutation_p.D337N	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	337	Spectrin 1.				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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGACTTCCGCGACTACCGGCG	0.622													A	39207822	G	A	39207822	3	1	233	1	0	0	0	0	1	0	0	0	207	1058	37	1	1047	1	ACTN4	19	39207822	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	4501784	39207822	19921161	182	117365											
MRPS12	6183	broad.mit.edu	37	chr19	39423241	39423241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaccctgcaggagcaccaGattgtccttgtggagggcgg	14	12	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:39423241G>C	uc002okc.2	+	3	628	c.318G>C	c.(316-318)CAG>CAC	p.Q106H	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc002okb.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.2_Missense_Mutation_p.Q106H|MRPS12_uc002oke.2_Missense_Mutation_p.Q106H	NM_033362	NP_203526	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12 precursor	106					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome				0	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGGAGCACCAGATTGTCCTTG	0.642													C	39423241	G	C	39423241	3	2	233	1	0	0	0	0	1	0	0	0	9823	933	33	5	324	5	MRPS12	19	39423241	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	215419	39423241	19705742	183	117366											
DLL3	10683	broad.mit.edu	37	chr19	39994903	39994903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccctgtgacgggaaccCgtgtgccaatggaggcagct	16	11	0	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:39994903C>T	uc002olx.2	+	5	903	c.845C>T	c.(844-846)CCG>CTG	p.P282L	DLL3_uc010egq.2_Missense_Mutation_p.P282L|DLL3_uc002olw.2_Missense_Mutation_p.P282L	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	282	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			GACGGGAACCCGTGTGCCAAT	0.647													T	39994903	C	T	39994903	3	4	233	1	0	0	0	0	1	0	0	0	4567	652	23	1	863	1	DLL3	19	39994903	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	571662	39994903	19134080	184	117367											
SFRS16	11129	broad.mit.edu	37	chr19	45573800	45573800	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgttttctttccaggtcgaGaatacagctcttctcgaagg	9	9	3	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:45573800G>A	uc002pak.2	+	20	2061	c.1963G>A	c.(1963-1965)GAA>AAA	p.E655K	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.E593K|SFRS16_uc002pam.2_Missense_Mutation_p.E636K	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	655	Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCAGGTCGAGAATACAGCTC	0.522													A	45573800	G	A	45573800	3	1	233	1	0	0	0	0	1	0	0	0	14172	943	33	4	2037	4	SFRS16	19	45573800	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	5578897	45573800	13555183	185	117368											
TRPM4	54795	broad.mit.edu	37	chr19	49684698	49684698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcccagagtgaactctttCggggggacatccaatggcgg	14	10	1	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:49684698C>T	uc002pmw.2	+	10	1315	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	TRPM4_uc010emu.2_Missense_Mutation_p.R415W|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.R241W|TRPM4_uc010emv.2_Missense_Mutation_p.R300W|TRPM4_uc010yal.1_Intron|TRPM4_uc002pmy.2_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	415	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		TGAACTCTTTCGGGGGGACAT	0.582													T	49684698	C	T	49684698	3	4	233	1	0	0	0	0	1	0	0	0	16585	875	31	1	1281	1	TRPM4	19	49684698	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	4110898	49684698	9444285	186	117369											
FPR2	2358	broad.mit.edu	37	chr19	52272135	52272135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgacttttctttcaCggccacattaccattcctca	5	15	3	1	rs144552448		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr19:52272135C>T	uc002pxr.2	+	2	269	c.224C>T	c.(223-225)ACG>ATG	p.T75M	FPR2_uc002pxs.3_Missense_Mutation_p.T75M|FPR2_uc010epf.2_Missense_Mutation_p.T75M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	75	Helical; Name=2; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						TTTTCTTTCACGGCCACATTA	0.512													T	52272135	C	T	52272135	3	4	233	1	0	0	0	0	1	0	0	0	6039	536	19	1	226	1	FPR2	19	52272135	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2587437	52272135	6856848	187	117370											
TGIF2	60436	broad.mit.edu	37	chr20	35207299	35207299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggctgtacttgcaccGctacaacgcctacccctcag	9	16	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:35207299G>A	uc002xfn.2	+	2	295	c.122G>A	c.(121-123)CGC>CAC	p.R41H	C20orf24_uc002xfo.2_Missense_Mutation_p.R41H	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	41	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)|skin(1)	2	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTTGCACCGCTACAACGCC	0.577													A	35207299	G	A	35207299	3	1	233	1	0	0	0	0	1	0	0	0	15823	1087	38	1	124	1	TGIF2	20	35207299	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		35207299	27818221	188	117371											
TOP1	7150	broad.mit.edu	37	chr20	39742659	39742659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggagaaacagcggacaCtgtgggctgctgctcacttc	14	10	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:39742659C>T	uc002xjl.2	+	15	1748	c.1502C>T	c.(1501-1503)ACT>ATT	p.T501I	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	501					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(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ACAGCGGACACTGTGGGCTGC	0.498			T	NUP98	AML*								T	39742659	C	T	39742659	3	4	233	1	0	0	0	0	1	0	0	0	16360	565	20	4	1560	4	TOP1	20	39742659	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	4535360	39742659	23282861	189	117372											
L3MBTL	26013	broad.mit.edu	37	chr20	42164793	42164793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacaggcaagttcacagCtcaccattgcctctcaggct	8	14	4	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:42164793C>T	uc010zwh.1	+	18	1962	c.1916C>T	c.(1915-1917)GCT>GTT	p.A639V	L3MBTL_uc002xkl.2_Missense_Mutation_p.A571V|L3MBTL_uc002xkm.2_Missense_Mutation_p.A571V|L3MBTL_uc010ggl.2_Missense_Mutation_p.A576V|L3MBTL_uc002xkn.1_Missense_Mutation_p.A330V|L3MBTL_uc002xko.2_Missense_Mutation_p.A223V	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	571	C2HC-type.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGTTCACAGCTCACCATTGC	0.597													T	42164793	C	T	42164793	3	4	233	1	0	0	0	0	1	0	0	0	8591	797	28	2	1770	2	L3MBTL	20	42164793	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2422134	42164793	20860727	190	117373											
SPATA2	9825	broad.mit.edu	37	chr20	48522761	48522761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcgcagcagggccgggcCgttgctgggggaggcgggtg	22	11	0	0	rs143126817		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:48522761C>T	uc010gie.2	-	3	1308	c.958G>A	c.(958-960)GGC>AGC	p.G320S	SPATA2_uc002xuw.2_Missense_Mutation_p.G320S|SPATA2_uc010zyn.1_Missense_Mutation_p.G183S	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	320					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGGCCGGGCCGTTGCTGGGG	0.647													T	48522761	C	T	48522761	3	4	233	1	0	0	0	0	1	0	0	0	15004	652	23	1	608	1	SPATA2	20	48522761	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	6357968	48522761	14502759	191	117374											
SPO11	23626	broad.mit.edu	37	chr20	55908246	55908246	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaacaaaatgacaggtTtgaagattctgtgggtcttc	9	6	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:55908246T>A	uc002xye.2	+	3	341	c.248T>A	c.(247-249)TTT>TAT	p.F83Y	SPO11_uc002xyf.2_Missense_Mutation_p.F45Y	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	83					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	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)			AATGACAGGTTTGAAGATTCT	0.333								Editing_and_processing_nucleases					A	55908246	T	A	55908246	3	1	233	1	0	0	0	0	1	0	0	0	15076	1841	64	5	258	5	SPO11	20	55908246	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	7385485	55908246	7117274	192	117375											
GNAS	2778	broad.mit.edu	37	chr20	57430309	57430309	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcccagaagcgcgcagagaaGaaacgcagtaagctcatcga	12	11	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr20:57430309G>C	uc002xzw.2	+	1	2274	c.1989G>C	c.(1987-1989)AAG>AAC	p.K663N	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGCAGAGAAGAAACGCAGTA	0.577			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			C	57430309	G	C	57430309	3	2	233	1	0	0	0	0	1	0	0	0	6510	942	33	5	2733	5	GNAS	20	57430309	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	1522063	57430309	5595211	193	117376											
COL6A1	1291	broad.mit.edu	37	chr21	47421938	47421938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccagatgcaggagcacGtgagcctgcgcagccccagc	13	15	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr21:47421938G>A	uc002zhu.1	+	31	2122	c.2020G>A	c.(2020-2022)GTG>ATG	p.V674M	COL6A1_uc010gqd.1_Missense_Mutation_p.V5M|COL6A1_uc002zhv.1_Missense_Mutation_p.V5M|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	674	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCAGGAGCACGTGAGCCTGCG	0.692													A	47421938	G	A	47421938	3	1	233	1	0	0	0	0	1	0	0	0	3699	1145	40	1	2142	1	COL6A1	21	47421938	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		47421938	707957	194	117377											
LSS	4047	broad.mit.edu	37	chr21	47615619	47615619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggtctgccccatacaggcGaaggcctccaggccaaacca	10	15	1	0	rs114786885	byFrequency	TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr21:47615619G>A	uc002zij.2	-	19	1867	c.1788C>T	c.(1786-1788)TTC>TTT	p.F596F	LSS_uc011afv.1_Silent_p.F585F|LSS_uc002zil.2_Silent_p.F596F|LSS_uc002zik.2_Silent_p.F516F	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	596	PFTB 3.				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					CCATACAGGCGAAGGCCTCCA	0.587													A	47615619	G	A	47615619	2	1	233	1	0	0	0	0	0	0	0	1	9065	1049	37	1		1	LSS	21	47615619	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	193681	47615619	514276	195	117378											
SSTR3	6753	broad.mit.edu	37	chr22	37603003	37603003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcagtgggcacaccacGttgacgatgttgagcacgta	14	10	0	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr22:37603003G>A	uc003ara.2	-	2	902	c.840C>T	c.(838-840)AAC>AAT	p.N280N	SSTR3_uc003arb.2_Silent_p.N280N	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	280	Extracellular (Potential).				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			lung(1)	1						GGCACACCACGTTGACGATGT	0.637													A	37603003	G	A	37603003	2	1	233	1	0	0	0	0	0	0	0	1	15198	1136	40	1		1	SSTR3	22	37603003	Silent	SNP	G	TCGA-EQ-8122-01A-11D-2340-08		37603003	13701563	196	117379											
C22orf9	23313	broad.mit.edu	37	chr22	45599792	45599792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagatgaccccctggaaCgtgttggttttgtcactagc	11	9	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chr22:45599792C>T	uc003bfx.1	-	6	657	c.591G>A	c.(589-591)ACG>ACA	p.T197T	C22orf9_uc010gzw.1_Silent_p.T49T|C22orf9_uc003bfv.1_Silent_p.T206T|C22orf9_uc003bfw.1_Silent_p.T202T|C22orf9_uc010gzx.2_Silent_p.T179T|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	197							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		CCCCCTGGAACGTGTTGGTTT	0.587													T	45599792	C	T	45599792	2	4	233	1	0	0	0	0	0	0	0	1	2151	523	19	1		1	C22orf9	22	45599792	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	7996789	45599792	5704774	197	117380											
DACH2	117154	broad.mit.edu	37	chrX	86067873	86067873	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcagaagaggtaccagttCaaattccaataatgaagtca	8	7	2	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:86067873C>A	uc004eew.2	+	8	1425	c.1255C>A	c.(1255-1257)CAA>AAA	p.Q419K	DACH2_uc004eex.2_Missense_Mutation_p.Q406K|DACH2_uc010nmq.2_Missense_Mutation_p.Q285K|DACH2_uc011mra.1_Missense_Mutation_p.Q252K|DACH2_uc010nmr.2_Missense_Mutation_p.Q200K|DACH2_uc004eey.2_Missense_Mutation_p.Q102K|DACH2_uc004eez.2_Missense_Mutation_p.Q102K	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						GGTACCAGTTCAAATTCCAAT	0.423													A	86067873	C	A	86067873	3	1	233	1	0	0	0	0	1	0	0	0	4221	827	29	5	1285	5	DACH2	23	86067873	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08		86067873	69202687	198	117381											
PCDH11X	27328	broad.mit.edu	37	chrX	91134257	91134257	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttcgaggtacctgtgtcCgtacacaccagaccggtagg	11	13	0	1	rs150373189		TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:91134257C>G	uc004efk.1	+	2	3863	c.3018C>G	c.(3016-3018)TCC>TCG	p.S1006S	PCDH11X_uc004efl.1_Silent_p.S1006S|PCDH11X_uc004efo.1_Silent_p.S1006S|PCDH11X_uc010nmv.1_Silent_p.S1006S|PCDH11X_uc004efm.1_Silent_p.S1006S|PCDH11X_uc004efn.1_Silent_p.S1006S|PCDH11X_uc004efh.1_Silent_p.S1006S|PCDH11X_uc004efj.1_Silent_p.S1006S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1006	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TACCTGTGTCCGTACACACCA	0.413													G	91134257	C	G	91134257	2	3	233	1	0	0	0	0	0	0	0	1	11508	639	23	5		5	PCDH11X	23	91134257	Silent	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	5066384	91134257	64136303	199	117382											
NAP1L3	4675	broad.mit.edu	37	chrX	92927838	92927838	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acattcttcttctgtaggctCgtattctgcattgatgattt	7	8	4	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:92927838C>A	uc004efq.2	-	1	771	c.466G>T	c.(466-468)GAG>TAG	p.E156*	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	156	Glu-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TCTGTAGGCTCGTATTCTGCA	0.418													A	92927838	C	A	92927838	4	1	233	1	0	0	0	0	0	1	0	0	10158	893	31	5	1058	5	NAP1L3	23	92927838	Nonsense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	1793581	92927838	62342722	200	117383											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119761012	119761012	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcaaaaaggagctgctttCagaaagcatttttcctataa	6	8	2	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:119761012C>T	uc004esy.2	-	3	357	c.10G>A	c.(10-12)GAA>AAA	p.E4K	C1GALT1C1_uc004esz.2_Missense_Mutation_p.E4K	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	4	Cytoplasmic (Potential).					integral to membrane					0						GAGCTGCTTTCAGAAAGCATT	0.318													T	119761012	C	T	119761012	3	4	233	1	0	0	0	0	1	0	0	0	1953	835	29	4	950	4	C1GALT1C1	23	119761012	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	26833174	119761012	35509548	201	117384											
ODZ1	10178	broad.mit.edu	37	chrX	123637484	123637484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatccatctcaaaacctTgtaaaacgactgtcctttgc	5	12	1	0			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:123637484T>G	uc004euj.2	-	19	3435	c.3371A>C	c.(3370-3372)CAA>CCA	p.Q1124P	ODZ1_uc011muj.1_Missense_Mutation_p.Q1123P|ODZ1_uc010nqy.2_Missense_Mutation_p.Q1124P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1124	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CTCAAAACCTTGTAAAACGAC	0.378													G	123637484	T	G	123637484	3	3	233	1	0	0	0	0	1	0	0	0	10834	1812	63	5	4883	5	ODZ1	23	123637484	Missense_Mutation	SNP	T	TCGA-EQ-8122-01A-11D-2340-08	3876472	123637484	31633076	202	117385											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685489	125685489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagagcagggagccctgaCcggtgcccacagtgatgatg	15	10	0	5			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:125685489C>A	uc004eul.2	-	1	1354	c.1103G>T	c.(1102-1104)GGT>GTT	p.G368V		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	368	WD 4.									skin(3)|ovary(1)	4						GGAGCCCTGACCGGTGCCCAC	0.632													A	125685489	C	A	125685489	3	1	233	1	0	0	0	0	1	0	0	0	4264	507	18	5	292	5	DCAF12L1	23	125685489	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2048005	125685489	29585071	203	117386											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685509	125685509	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgcccacagtgatgatGtggcggtagaagctcagcga	15	10	1	3			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:125685509G>C	uc004eul.2	-	1	1334	c.1083C>G	c.(1081-1083)CAC>CAG	p.H361Q		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	361	WD 4.									skin(3)|ovary(1)	4						CAGTGATGATGTGGCGGTAGA	0.617													C	125685509	G	C	125685509	3	2	233	1	0	0	0	0	1	0	0	0	4264	1368	48	5	312	5	DCAF12L1	23	125685509	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	20	125685509	29585051	204	117387											
USP26	83844	broad.mit.edu	37	chrX	132161102	132161102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctaaaaactcatgagCatcgttctgtgcattgccat	9	9	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:132161102C>T	uc010nrm.1	-	6	1617	c.1147G>A	c.(1147-1149)GCT>ACT	p.A383T	USP26_uc011mvf.1_Missense_Mutation_p.A383T	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	383					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AACTCATGAGCATCGTTCTGT	0.353													T	132161102	C	T	132161102	3	4	233	1	0	0	0	0	1	0	0	0	17054	710	25	2	1597	2	USP26	23	132161102	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	6475593	132161102	23109458	205	117388											
ZNF449	203523	broad.mit.edu	37	chrX	134494366	134494366	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccaacttggaagaacctCtcaaccctaaaccccacaag	4	16	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:134494366C>T	uc004eys.2	+	5	1087	c.922C>T	c.(922-924)CTC>TTC	p.L308F	ZNF449_uc004eyt.2_Missense_Mutation_p.L188F|ZNF449_uc004eyu.2_Missense_Mutation_p.L114F	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGAACCTCTCAACCCTAA	0.483													T	134494366	C	T	134494366	3	4	233	1	0	0	0	0	1	0	0	0	17917	913	32	4	936	4	ZNF449	23	134494366	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	2333264	134494366	20776194	206	117389											
SAGE1	55511	broad.mit.edu	37	chrX	134994051	134994052	+	Frame_Shift_Ins	INS	-	-	A													aaatatctcctgccatggcaINSaagaaaattaatgatgatat							TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:134994050_134994051C>CA	uc004ezh.3	+	17	2626_2627	c.2459_2460C>CA	c.(2458-2460)gcafs	p.A820fs	SAGE1_uc010nry.1_Frame_Shift_Ins_p.A789fs|SAGE1_uc011mvv.2_Frame_Shift_Ins_p.A444fs	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	820								p.A820T(1)		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)					CCTGCCATGGCAAAGAAAATTA	0.381													A	134994052	-	A	134994051	7	5	233	1	0	1	1	0	0	0	0	0	13809	117	5	0	2526	0	SAGE1	23	134994051	Frame_Shift_Ins	INS	-	TCGA-EQ-8122-01A-11D-2340-08	499685	134994051	20276509	207	117390											
MMGT1	93380	broad.mit.edu	37	chrX	135049602	135049602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaactctcctgcaatatgAactataccgtaacaggtaac	5	10	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:135049602A>G	uc004ezi.1	-	3	483	c.183T>C	c.(181-183)GTT>GTC	p.V61V	MMGT1_uc011mvw.1_Silent_p.V126V	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1 precursor	61	Helical; (Potential).					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity				0						CTGCAATATGAACTATACCGT	0.333													G	135049602	A	G	135049602	2	3	233	1	0	0	0	0	0	0	0	1	9647	233	9	3		3	MMGT1	23	135049602	Silent	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	55551	135049602	20220958	208	117391											
LDOC1	23641	broad.mit.edu	37	chrX	140271115	140271115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcgcacaccagcagcCgcagctgttccatgagctgg	10	17	1	1			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:140271115C>T	uc004fbj.2	-	1	196	c.92G>A	c.(91-93)CGG>CAG	p.R31Q		NM_012317	NP_036449	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	31					negative regulation of cell proliferation	nucleus	protein binding				0	Acute lymphoblastic leukemia(192;7.65e-05)					CACCAGCAGCCGCAGCTGTTC	0.662													T	140271115	C	T	140271115	3	4	233	1	0	0	0	0	1	0	0	0	8709	652	23	1	352	1	LDOC1	23	140271115	Missense_Mutation	SNP	C	TCGA-EQ-8122-01A-11D-2340-08	5221513	140271115	14999445	209	117392											
MAGEC1	9947	broad.mit.edu	37	chrX	140993323	140993323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagagttctcctgagagcGacgacaccctgtatcctctc	8	16	2	2			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:140993323G>A	uc004fbt.2	+	4	419	c.133G>A	c.(133-135)GAC>AAC	p.D45N	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	45							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGAGAGCGACGACACCCT	0.592										HNSCC(15;0.026)			A	140993323	G	A	140993323	3	1	233	1	0	0	0	0	1	0	0	0	9180	1058	37	1	139	1	MAGEC1	23	140993323	Missense_Mutation	SNP	G	TCGA-EQ-8122-01A-11D-2340-08	722208	140993323	14277237	210	117393											
AFF2	2334	broad.mit.edu	37	chrX	148039901	148039901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaagatccctgagaagaAgcagcgcctggaggaggcca	15	9	0	4			TCGA-EQ-8122-01A-11D-2340-08	TCGA-EQ-8122-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92f8dd8e-79d8-41ce-a8a0-c87352312b1d	a88d1cd7-f636-428f-b2c9-16d70e4018bf	g.chrX:148039901A>C	uc004fcp.2	+	12	3082	c.2603A>C	c.(2602-2604)AAG>ACG	p.K868T	AFF2_uc004fcq.2_Missense_Mutation_p.K858T|AFF2_uc004fcr.2_Missense_Mutation_p.K829T|AFF2_uc011mxb.1_Missense_Mutation_p.K833T|AFF2_uc004fcs.2_Missense_Mutation_p.K835T|AFF2_uc011mxc.1_Missense_Mutation_p.K509T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	868					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAAGAAGCAGCGCCTG	0.488													C	148039901	A	C	148039901	3	2	233	1	0	0	0	0	1	0	0	0	357	72	3	5	2704	5	AFF2	23	148039901	Missense_Mutation	SNP	A	TCGA-EQ-8122-01A-11D-2340-08	7046578	148039901	7230659	211	117394											
ZNF642	339559	broad.mit.edu	37	chr1	40954867	40954867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgatgctggagaactaCagcaacttggtgtcagtggg	16	6	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:40954867C>T	uc001cfo.2	+	4	621	c.327C>T	c.(325-327)TAC>TAT	p.Y109Y	ZNF642_uc009vwb.2_Silent_p.Y109Y|ZNF642_uc010ojk.1_Silent_p.Y109Y	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	109	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;8.81e-19)			TGGAGAACTACAGCAACTTGG	0.458													T	40954867	C	T	40954867	2	4	234	1	0	0	0	0	0	0	0	1	18055	489	17	4		4	ZNF642	1	40954867	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		40954867	208295754	1	117395											
RNF220	55182	broad.mit.edu	37	chr1	44878012	44878012	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcaaggtggggtgccaggCacttttgccaatcgtgattt	14	9	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:44878012C>A	uc001clv.1	+	2	603	c.243C>A	c.(241-243)GGC>GGA	p.G81G	RNF220_uc001clw.1_Silent_p.G81G	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	81					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						GGGTGCCAGGCACTTTTGCCA	0.488													A	44878012	C	A	44878012	2	1	234	1	0	0	0	0	0	0	0	1	13483	697	25	5		5	RNF220	1	44878012	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	3923145	44878012	204372609	2	117396											
ELAVL4	1996	broad.mit.edu	37	chr1	50666792	50666792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagcctcaacgggtaccGcctgggagacagagtgttgc	14	13	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:50666792G>A	uc001csb.2	+	7	1353	c.1085G>A	c.(1084-1086)CGC>CAC	p.R362H	ELAVL4_uc001cry.3_Missense_Mutation_p.R351H|ELAVL4_uc001crz.3_Missense_Mutation_p.R348H|ELAVL4_uc001csa.3_Missense_Mutation_p.R365H|ELAVL4_uc001csc.3_Missense_Mutation_p.R348H|ELAVL4_uc010omz.1_Missense_Mutation_p.R353H	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	362	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.R362H(1)		ovary(1)|pancreas(1)	2						AACGGGTACCGCCTGGGAGAC	0.443													A	50666792	G	A	50666792	3	1	234	1	0	0	0	0	1	0	0	0	5052	1087	38	1	1210	1	ELAVL4	1	50666792	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	5788780	50666792	198583829	3	117397											
JAK1	3716	broad.mit.edu	37	chr1	65339111	65339112	+	Frame_Shift_Ins	INS	-	-	T													aggggttgcatctggaatctINStttttttctcgtagccattt							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:65339110_65339111C>CT	uc001dbu.1	-	4	674_675	c.425_426G>AG	c.(424-426)aagfs	p.K142fs	JAK1_uc009wam.1_Frame_Shift_Ins_p.K142fs|JAK1_uc001dbv.3_Non-coding_Transcript	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	142	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	p.K142fs*26(3)		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)		CATCTGGAATCTTTTTTTTCTC	0.48			Mis		ALL								T	65339112	-	T	65339111	7	5	234	1	0	1	1	0	0	0	0	0	7937	1609	56	0	3123	0	JAK1	1	65339111	Frame_Shift_Ins	INS	-	TCGA-EQ-A4SO-01A-11D-A25D-08	14672319	65339111	183911510	4	117398											
WLS	79971	broad.mit.edu	37	chr1	68615882	68615882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctcttaccatcatgtgctCgccacagaagatgatccaga	9	12	2	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:68615882C>T	uc001def.1	-	6	1232	c.961G>A	c.(961-963)GAG>AAG	p.E321K	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.E319K|WLS_uc001deg.1_Missense_Mutation_p.E230K|WLS_uc009wbf.1_Missense_Mutation_p.E276K	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	321	Helical; Name=3; (Potential).				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				0						ATCATGTGCTCGCCACAGAAG	0.567													T	68615882	C	T	68615882	3	4	234	1	0	0	0	0	1	0	0	0	17373	893	31	1	818	1	WLS	1	68615882	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	3276771	68615882	180634739	5	117399											
GBP5	115362	broad.mit.edu	37	chr1	89728058	89728058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacctttgcgcttcagcctTttcagcttctgctttcactt	5	14	4	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:89728058T>C	uc001dnc.2	-	11	2029	c.1492A>G	c.(1492-1494)AAG>GAG	p.K498E	GBP5_uc001dnd.2_Missense_Mutation_p.K498E	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	498						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		GCTTCAGCCTTTTCAGCTTCT	0.463													C	89728058	T	C	89728058	3	2	234	1	0	0	0	0	1	0	0	0	6277	1850	64	3	276	3	GBP5	1	89728058	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	21112176	89728058	159522563	6	117400											
TCHH	7062	broad.mit.edu	37	chr1	152085471	152085471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actttgaaaataaataggagGaattcgttgaaatcgacacg	9	5	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:152085471G>T	uc001ezp.2	-	2	222	c.222C>A	c.(220-222)TTC>TTA	p.F74L	TCHH_uc009wne.1_Missense_Mutation_p.F74L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	74	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAATAGGAGGAATTCGTTGA	0.478													T	152085471	G	T	152085471	3	4	234	1	0	0	0	0	1	0	0	0	15697	1165	41	5	5613	5	TCHH	1	152085471	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	62357413	152085471	97165150	7	117401											
FLG	2312	broad.mit.edu	37	chr1	152280891	152280891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtccagacctatctacCgattgctcttggtgggaccc	11	12	2	1	rs141369067	byFrequency	TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:152280891C>T	uc001ezu.1	-	3	6507	c.6471G>A	c.(6469-6471)TCG>TCA	p.S2157S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2157	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATCTACCGATTGCTCTT	0.592									Ichthyosis				T	152280891	C	T	152280891	2	4	234	1	0	0	0	0	0	0	0	1	5922	639	23	1		1	FLG	1	152280891	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	195420	152280891	96969730	8	117402											
KPRP	448834	broad.mit.edu	37	chr1	152732601	152732601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcagggaagattctcCacccagtgccagtatcaagg	10	13	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:152732601C>T	uc001fal.1	+	2	595	c.537C>T	c.(535-537)TCC>TCT	p.S179S		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	179	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGATTCTCCACCCAGTGCC	0.552													T	152732601	C	T	152732601	2	4	234	1	0	0	0	0	0	0	0	1	8436	581	21	4		4	KPRP	1	152732601	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	451710	152732601	96518020	9	117403											
COPA	1314	broad.mit.edu	37	chr1	160262393	160262393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaactggattaccccTacttggtcatgaaggagctg	12	10	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:160262393T>C	uc009wti.2	-	28	3235	c.2841A>G	c.(2839-2841)GTA>GTG	p.V947V	COPA_uc001fvv.3_Silent_p.V956V	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	947					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			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATTACCCCTACTTGGTCAT	0.368													C	160262393	T	C	160262393	2	2	234	1	0	0	0	0	0	0	0	1	3727	1509	53	3		3	COPA	1	160262393	Silent	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	7529792	160262393	88988228	10	117404											
HMCN1	83872	broad.mit.edu	37	chr1	186123065	186123065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcctctgtggaatctgacTataaccagatagaagagaca	8	9	2	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:186123065T>C	uc001grq.1	+	97	15431	c.15202T>C	c.(15202-15204)TAT>CAT	p.Y5068H	HMCN1_uc001grs.1_Missense_Mutation_p.Y637H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5068	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGAATCTGACTATAACCAGAT	0.383													C	186123065	T	C	186123065	3	2	234	1	0	0	0	0	1	0	0	0	7220	1522	53	3	15588	3	HMCN1	1	186123065	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	25860672	186123065	63127556	11	117405											
CFHR2	3080	broad.mit.edu	37	chr1	196928061	196928061	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatataacataaaattaAagtggacaaaccaacaaaag	4	5	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:196928061A>T	uc001gtq.1	+	5	741	c.664A>T	c.(664-666)AAG>TAG	p.K222*	CFHR2_uc001gtr.1_Nonsense_Mutation_p.K98*	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	222	Sushi 4.					extracellular region				skin(2)|ovary(1)	3						CATAAAATTAAAGTGGACAAA	0.279													T	196928061	A	T	196928061	4	4	234	1	0	0	0	0	0	1	0	0	3285	15	1	5	682	5	CFHR2	1	196928061	Nonsense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	10804996	196928061	52322560	12	117406											
CRB1	23418	broad.mit.edu	37	chr1	197313456	197313456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgttggtcccagccttGtttaaatggtgcaacttgtc	10	9	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:197313456G>T	uc001gtz.2	+	3	833	c.698G>T	c.(697-699)TGT>TTT	p.C233F	CRB1_uc010poz.1_Missense_Mutation_p.C164F|CRB1_uc001gty.1_Missense_Mutation_p.C233F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.C233F|CRB1_uc010ppc.1_RNA	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	233	EGF-like 6; calcium-binding (Potential).|Extracellular (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCCCAGCCTTGTTTAAATGGT	0.428													T	197313456	G	T	197313456	3	4	234	1	0	0	0	0	1	0	0	0	3848	1377	48	5	708	5	CRB1	1	197313456	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	385395	197313456	51937165	13	117407											
PIK3C2B	5287	broad.mit.edu	37	chr1	204412703	204412703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggatgctgaactgagagtCcttgaggccgtccttcagta	13	10	1	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:204412703C>T	uc001haw.2	-	20	3369	c.2890G>A	c.(2890-2892)GAC>AAC	p.D964N	PIK3C2B_uc010pqv.1_Missense_Mutation_p.D936N	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	964					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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			AACTGAGAGTCCTTGAGGCCG	0.577													T	204412703	C	T	204412703	3	4	234	1	0	0	0	0	1	0	0	0	11910	855	30	4	2074	4	PIK3C2B	1	204412703	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	7099247	204412703	44837918	14	117408											
RBBP5	5929	broad.mit.edu	37	chr1	205066019	205066019	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtaaatacaatagagcctttGaatcttccagctcttcatca	5	10	4	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:205066019G>C	uc001hbu.1	-	12	1317	c.1187C>G	c.(1186-1188)TCA>TGA	p.S396*	RBBP5_uc010prd.1_Nonsense_Mutation_p.S431*|RBBP5_uc001hbv.1_Nonsense_Mutation_p.S396*|RBBP5_uc010pre.1_Nonsense_Mutation_p.S263*	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	396					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			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TAGAGCCTTTGAATCTTCCAG	0.468													C	205066019	G	C	205066019	4	2	234	1	0	0	0	0	0	1	0	0	13102	1294	45	5	441	5	RBBP5	1	205066019	Nonsense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	653316	205066019	44184602	15	117409											
HLX	3142	broad.mit.edu	37	chr1	221054609	221054609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagccctcggccggccaGttcttcgcatctctagatcc	9	17	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:221054609G>T	uc001hmv.3	+	2	1123	c.666G>T	c.(664-666)CAG>CAT	p.Q222H		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	222					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		CGGCCGGCCAGTTCTTCGCAT	0.567													T	221054609	G	T	221054609	3	4	234	1	0	0	0	0	1	0	0	0	7216	1020	36	5	672	5	HLX	1	221054609	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	15988590	221054609	28196012	16	117410											
DUSP10	11221	broad.mit.edu	37	chr1	221879731	221879731	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcggatgcgccgccccCcacctcccggcactcttgga	12	20	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:221879731C>A	uc001hmy.1	-	3	1071	c.889G>T	c.(889-891)GGG>TGG	p.G297W	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	297					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			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		GCGCCGCCCCCCACCTCCCGG	0.577													A	221879731	C	A	221879731	3	1	234	1	0	0	0	0	1	0	0	0	4810	623	22	5	567	5	DUSP10	1	221879731	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	825122	221879731	27370890	17	117411											
DISP1	84976	broad.mit.edu	37	chr1	223176630	223176630	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagcaacattacagcaatcCgatgctttggggtttatgcg	10	8	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:223176630C>T	uc001hnu.1	+	8	2038	c.1891C>T	c.(1891-1893)CGA>TGA	p.R631*		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	631	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TACAGCAATCCGATGCTTTGG	0.473													T	223176630	C	T	223176630	4	4	234	1	0	0	0	0	0	1	0	0	4539	644	23	1	1917	1	DISP1	1	223176630	Nonsense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1296899	223176630	26073991	18	117412											
ITPKB	3707	broad.mit.edu	37	chr1	226924068	226924068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagggggttctccatcGcggggcccgcccctttctgg	13	16	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:226924068G>A	uc010pvo.1	-	2	1432	c.1092C>T	c.(1090-1092)CGC>CGT	p.R364R	ITPKB_uc001hqh.2_Silent_p.R364R	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	364							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GTTCTCCATCGCGGGGCCCGC	0.652													A	226924068	G	A	226924068	2	1	234	1	0	0	0	0	0	0	0	1	7918	1074	38	1		1	ITPKB	1	226924068	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	3747438	226924068	22326553	19	117413											
TTC13	79573	broad.mit.edu	37	chr1	231047269	231047269	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagtaataaactaaggataaGattaagttgcagacagcatc	8	5	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:231047269G>C	uc001huf.3	-	20	2287	c.2256C>G	c.(2254-2256)ATC>ATG	p.I752M	TTC13_uc009xfi.2_Missense_Mutation_p.I699M|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.I698M|TTC13_uc009xfk.1_Missense_Mutation_p.I641M	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	752							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTAAGGATAAGATTAAGTTGC	0.294													C	231047269	G	C	231047269	3	2	234	1	0	0	0	0	1	0	0	0	16677	932	33	5	342	5	TTC13	1	231047269	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	4123201	231047269	18203352	20	117414											
RYR2	6262	broad.mit.edu	37	chr1	237666797	237666797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacacccatccctgtggatAccagccaggtaccaagatcc	7	16	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:237666797A>G	uc001hyl.1	+	22	2725	c.2605A>G	c.(2605-2607)ACC>GCC	p.T869A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	869	Cytoplasmic (By similarity).|1.|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CCCTGTGGATACCAGCCAGGT	0.428													G	237666797	A	G	237666797	3	3	234	1	0	0	0	0	1	0	0	0	13769	391	14	3	2691	3	RYR2	1	237666797	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	6619528	237666797	11583824	21	117415											
RYR2	6262	broad.mit.edu	37	chr1	237947675	237947675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgaataaggaagaaagCgagaaggagaggccggaaga	16	5	1	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:237947675C>T	uc001hyl.1	+	90	12783	c.12663C>T	c.(12661-12663)AGC>AGT	p.S4221S	RYR2_uc010pya.1_Silent_p.S636S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4221					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AGGAAGAAAGCGAGAAGGAGA	0.542													T	237947675	C	T	237947675	2	4	234	1	0	0	0	0	0	0	0	1	13769	767	27	1		1	RYR2	1	237947675	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	280878	237947675	11302946	22	117416											
OR13G1	441933	broad.mit.edu	37	chr1	247835974	247835974	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgtaatgaagagggaaacAaatggccacatagcggtcat	11	7	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr1:247835974A>T	uc001idi.1	-	1	370	c.370T>A	c.(370-372)TGT>AGT	p.C124S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			AGAGGGAAACAAATGGCCACA	0.488													T	247835974	A	T	247835974	3	4	234	1	0	0	0	0	1	0	0	0	10942	130	5	5	557	5	OR13G1	1	247835974	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	9888299	247835974	1414647	23	117417											
ASAP2	8853	broad.mit.edu	37	chr2	9528481	9528481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagctgggctccaaccAgcttcagtctaacgctgtat	8	14	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:9528481A>G	uc002qzh.2	+	22	2529	c.2189A>G	c.(2188-2190)CAG>CGG	p.Q730R	ASAP2_uc002qzi.2_Missense_Mutation_p.Q730R	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	730	Potential.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GGCTCCAACCAGCTTCAGTCT	0.552													G	9528481	A	G	9528481	3	3	234	1	0	0	0	0	1	0	0	0	1011	188	7	3	2275	3	ASAP2	2	9528481	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08		9528481	233670892	24	117418											
NOL10	79954	broad.mit.edu	37	chr2	10729750	10729750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcttagtttcttcttcCttttttcactaatttttgaa	4	7	4	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:10729750C>T	uc002raq.2	-	18	1675	c.1550G>A	c.(1549-1551)AGG>AAG	p.R517K	NOL10_uc010yje.1_Missense_Mutation_p.R491K|NOL10_uc010yjf.1_Missense_Mutation_p.R467K|NOL10_uc002rap.2_Missense_Mutation_p.R467K	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	517	Potential.					nucleolus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTCTTCTTCCTTTTTTCACT	0.323													T	10729750	C	T	10729750	3	4	234	1	0	0	0	0	1	0	0	0	10520	681	24	4	532	4	NOL10	2	10729750	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1201269	10729750	232469623	25	117419											
SDC1	6382	broad.mit.edu	37	chr2	20403851	20403851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtggcctcctgctccCgggcggtgaggccaggctcc	19	14	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:20403851C>A	uc002rdo.1	-	3	649	c.350G>T	c.(349-351)CGG>CTG	p.R117L	SDC1_uc002rdp.1_Missense_Mutation_p.R117L|SDC1_uc010exv.2_Missense_Mutation_p.R117L|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	117	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCCTGCTCCCGGGCGGTGAG	0.701													A	20403851	C	A	20403851	3	1	234	1	0	0	0	0	1	0	0	0	13951	652	23	5	594	5	SDC1	2	20403851	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	9674101	20403851	222795522	26	117420											
BIRC6	57448	broad.mit.edu	37	chr2	32728208	32728208	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tattatgaaatttcttgactCtggtccaaataaagctgttg	7	6	2	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:32728208C>G	uc010ezu.2	+	49	9538	c.9404C>G	c.(9403-9405)TCT>TGT	p.S3135C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3135					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGACTCTGGTCCAAAT	0.398													G	32728208	C	G	32728208	3	3	234	1	0	0	0	0	1	0	0	0	1438	913	32	5	9598	5	BIRC6	2	32728208	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	12324357	32728208	210471165	27	117421											
SOS1	6654	broad.mit.edu	37	chr2	39213364	39213364	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagggtctgagatagaggtCcggtctgatattgaatatcg	15	5	2	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:39213364C>T	uc002rrk.3	-	23	3644	c.3603G>A	c.(3601-3603)CGG>CGA	p.R1201R	SOS1_uc002rrj.3_Silent_p.R800R	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1201					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			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				AGATAGAGGTCCGGTCTGATA	0.473									Noonan_syndrome				T	39213364	C	T	39213364	2	4	234	1	0	0	0	0	0	0	0	1	14936	842	30	4		4	SOS1	2	39213364	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	6485156	39213364	203986009	28	117422											
SPTBN1	6711	broad.mit.edu	37	chr2	54864881	54864881	+	Frame_Shift_Del	DEL	C	C	-													atcgtgagacagccagtgaaCttttgatgaggttgaaggac							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:54864880_54864880AC>A	uc002rxu.3	+	17	4047	c.3798_3798AC>A	c.(3796-3798)gaafs	p.E1266fs	SPTBN1_uc002rxx.3_Frame_Shift_Del_p.E1253fs	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1266					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)			CAGCCAGTGAACTTTTGATGA	0.348													-	54864881	C	-	54864881	7	5	234	1	0	1	0	1	0	0	0	0	15118	565	20	0	3978	0	SPTBN1	2	54864881	Frame_Shift_Del	DEL	C	TCGA-EQ-A4SO-01A-11D-A25D-08	15651517	54864881	188334492	29	117423											
TGOLN2	10618	broad.mit.edu	37	chr2	85554472	85554472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttggagtctgcagctccGgatgcgacttactagtgctg	12	10	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:85554472G>A	uc010fgd.1	-	2	672	c.383C>T	c.(382-384)CCG>CTG	p.P128L	TGOLN2_uc002soz.2_Missense_Mutation_p.P128L|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.P128L|TGOLN2_uc002spc.1_Missense_Mutation_p.P128L	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	128	Extracellular (Potential).|14 X 14 AA tandem repeats.|6.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CTGCAGCTCCGGATGCGACTT	0.587													A	85554472	G	A	85554472	3	1	234	1	0	0	0	0	1	0	0	0	15833	1116	39	1	942	1	TGOLN2	2	85554472	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	30689591	85554472	157644901	30	117424											
RANBP2	5903	broad.mit.edu	37	chr2	109398786	109398786	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcaaaccacgttattaCtaaaacaatggaattaaagc	7	7	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:109398786C>G	uc002tem.3	+	27	9089	c.8963C>G	c.(8962-8964)ACT>AGT	p.T2988S		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2988	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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						CACGTTATTACTAAAACAATG	0.333													G	109398786	C	G	109398786	3	3	234	1	0	0	0	0	1	0	0	0	13028	565	20	5	9069	5	RANBP2	2	109398786	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	23844314	109398786	133800587	31	117425											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504947	125504947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttttgcaattgcgacgCtgacaaggatgaatggtaat	11	7	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:125504947C>T	uc002tno.2	+	14	2580	c.2216C>T	c.(2215-2217)GCT>GTT	p.A739V	CNTNAP5_uc010flu.2_Missense_Mutation_p.A740V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	739	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATTGCGACGCTGACAAGGAT	0.483													T	125504947	C	T	125504947	3	4	234	1	0	0	0	0	1	0	0	0	3650	797	28	2	2270	2	CNTNAP5	2	125504947	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	16106161	125504947	117694426	32	117426											
NEB	4703	broad.mit.edu	37	chr2	152376211	152376211	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcatctttcatgactttgtaGagctggctgtcttttggatt	10	7	3	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:152376211G>C	uc010fnx.2	-	126	17639	c.17448C>G	c.(17446-17448)CTC>CTG	p.L5816L	NEB_uc002txr.2_Silent_p.L2239L|NEB_uc002txt.3_Silent_p.L321L	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5816	Nebulin 159.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGACTTTGTAGAGCTGGCTGT	0.259													C	152376211	G	C	152376211	2	2	234	1	0	0	0	0	0	0	0	1	10302	929	33	5		5	NEB	2	152376211	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	26871264	152376211	90823162	33	117427											
CYTIP	9595	broad.mit.edu	37	chr2	158272554	158272554	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgctctcactggataatcGattccggtccacaagggctg	11	12	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:158272554G>A	uc002tzj.1	-	8	787	c.715C>T	c.(715-717)CGA>TGA	p.R239*	CYTIP_uc010zcl.1_Nonsense_Mutation_p.R133*	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	239					regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						CTGGATAATCGATTCCGGTCC	0.542													A	158272554	G	A	158272554	4	1	234	1	0	0	0	0	0	1	0	0	4207	1066	37	1	368	1	CYTIP	2	158272554	Nonsense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	5896343	158272554	84926819	34	117428											
ATP5G3	518	broad.mit.edu	37	chr2	176046091	176046091	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggctacgcaccagagaggGggtgcaggcgagcttggcgc	19	10	0	1	rs140931538		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:176046091G>C	uc002ujz.3	-	1	301	c.31C>G	c.(31-33)CCC>GCC	p.P11A	ATP5G3_uc002uka.3_Missense_Mutation_p.P11A|ATP5G3_uc002ukb.1_Missense_Mutation_p.P11A	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	11					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)			ACCAGAGAGGGGGTGCAGGCG	0.652													C	176046091	G	C	176046091	3	2	234	1	0	0	0	0	1	0	0	0	1155	1232	43	5	417	5	ATP5G3	2	176046091	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	17773537	176046091	67153282	35	117429											
TTN	7273	broad.mit.edu	37	chr2	179437941	179437941	+	Frame_Shift_Del	DEL	A	A	-													ggactggtaggacttggtgcActaattccagcagcattttc							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:179437941delA	uc010zfg.1	-	275	65438	c.65214delT	c.(65212-65214)AGTfs	p.S21738fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.S15433fs|TTN_uc010zfi.1_Frame_Shift_Del_p.S15366fs|TTN_uc010zfj.1_Frame_Shift_Del_p.S15241fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22665							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTGGTGCACTAATTCCAG	0.413													-	179437941	A	-	179437941	7	5	234	1	0	1	0	1	0	0	0	0	16732	156	6	0	35209	0	TTN	2	179437941	Frame_Shift_Del	DEL	A	TCGA-EQ-A4SO-01A-11D-A25D-08	3391850	179437941	63761432	36	117430											
TTN	7273	broad.mit.edu	37	chr2	179571225	179571250	+	Frame_Shift_Del	DEL	CTTCCTTTCATCCACCTGTAAGTTAA	CTTCCTTTCATCCACCTGTAAGTTAA	-													ccttcaattttctcttgtttCttcctttcatccacctgtaa							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:179571225_179571250delCTTCCTTTCATCCACCTGTAAGTTAA	uc010zfg.1	-	99	25843_25868	c.25619_25644delTTAACTTACAGGTGGATGAAAGGAAG	c.(25618-25644)GTTAACTTACAGGTGGATGAAAGGAAGfs	p.V8540fs	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V5201fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9467_9475							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTGTTTCTTCCTTTCATCCACCTGTAAGTTAACATTACTTTC	0.336													-	179571250	CTTCCTTTCATCCACCTGTAAGTTAA	-	179571225	7	5	234	1	0	1	0	1	0	0	0	0	16732	912	32	0	75197	0	TTN	2	179571225	Frame_Shift_Del	DEL	CTTCCTTTCATCCACCTGTAAGTTAA	TCGA-EQ-A4SO-01A-11D-A25D-08	133284	179571225	63628148	37	117431											
FAM171B	165215	broad.mit.edu	37	chr2	187627259	187627264	+	In_Frame_Del	DEL	GCATCA	GCATCA	-													aaaacattcatcaaaagcatGcatcagcccaagatccttta							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:187627259_187627264delGCATCA	uc002ups.2	+	8	2302_2307	c.2190_2195delGCATCA	c.(2188-2196)ATGCATCAG>ATG	p.HQ731del	FAM171B_uc002upr.1_In_Frame_Del_p.HQ698del|FAM171B_uc002upt.2_In_Frame_Del_p.HQ200del	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	731_732	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						TCAAAAGCATGCATCAGCCCAAGATC	0.481													-	187627264	GCATCA	-	187627259	7	5	234	1	0	1	0	1	0	0	0	0	5491	1319	46	0	2220	0	FAM171B	2	187627259	In_Frame_Del	DEL	GCATCA	TCGA-EQ-A4SO-01A-11D-A25D-08	8056034	187627259	55572114	38	117432											
TFPI	7035	broad.mit.edu	37	chr2	188368450	188368450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagattaagcagcaggcAtacagaagcccaaagtgcat	11	9	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:188368450A>G	uc002upx.2	-	2	79	c.46T>C	c.(46-48)TGC>CGC	p.C16R	TFPI_uc002upy.2_Missense_Mutation_p.C16R|TFPI_uc002upz.2_Missense_Mutation_p.C12R|TFPI_uc002uqa.2_Missense_Mutation_p.C16R|TFPI_uc002uqb.2_Missense_Mutation_p.C16R	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	16					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	AGCAGCAGGCATACAGAAGCC	0.358													G	188368450	A	G	188368450	3	3	234	1	0	0	0	0	1	0	0	0	15805	217	8	3	1028	3	TFPI	2	188368450	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	741191	188368450	54830923	39	117433											
GULP1	51454	broad.mit.edu	37	chr2	189406025	189406025	+	Missense_Mutation	SNP	G	G	T													caaataaacatttgtgctatGtatttgacagcgaaaagtgt							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:189406025G>T	uc010fru.2	+	7	840	c.379G>T	c.(379-381)GTA>TTA	p.V127L	GULP1_uc002uqc.3_Missense_Mutation_p.V127L|GULP1_uc002uqd.2_Missense_Mutation_p.V127L|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Missense_Mutation_p.V127L|GULP1_uc002uqf.2_Missense_Mutation_p.V127L|GULP1_uc002uqg.2_Missense_Mutation_p.V127L	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	127	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTGTGCTATGTATTTGACAG	0.363													T	189406025	G	T	189406025	3	4	234	1	0	0	0	0	1	0	0	0	6901	1377	48	5	397	5	GULP1	2	189406025	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	1037575	189406025	53793348	40	117434	562	2									
GULP1	51454	broad.mit.edu	37	chr2	189406027	189406027	+	Silent	SNP	A	A	T													aataaacatttgtgctatgtAtttgacagcgaaaagtgtgt							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:189406027A>T	uc010fru.2	+	7	842	c.381A>T	c.(379-381)GTA>GTT	p.V127V	GULP1_uc002uqc.3_Silent_p.V127V|GULP1_uc002uqd.2_Silent_p.V127V|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Silent_p.V127V|GULP1_uc002uqf.2_Silent_p.V127V|GULP1_uc002uqg.2_Silent_p.V127V	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	127	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGTGCTATGTATTTGACAGCG	0.353													T	189406027	A	T	189406027	2	4	234	1	0	0	0	0	0	0	0	1	6901	436	16	5		5	GULP1	2	189406027	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	2	189406027	53793346	41	117435	562	2									
STAT4	6775	broad.mit.edu	37	chr2	191922752	191922752	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccaaacttaccaaatgtcGaaattctactgagagactcc	6	11	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:191922752G>A	uc002usm.1	-	13	1452	c.1198C>T	c.(1198-1200)CGA>TGA	p.R400*	STAT4_uc002usn.1_Nonsense_Mutation_p.R400*|STAT4_uc010zgk.1_Nonsense_Mutation_p.R245*|STAT4_uc002uso.2_Nonsense_Mutation_p.R400*	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	400					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAAATGTCGAAATTCTACT	0.363													A	191922752	G	A	191922752	4	1	234	1	0	0	0	0	0	1	0	0	15266	1066	37	1	1096	1	STAT4	2	191922752	Nonsense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	2516725	191922752	51276621	42	117436											
DNAH7	56171	broad.mit.edu	37	chr2	196883950	196883950	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attgtggggttcattgcattCaagtgatccctaatataact	8	7	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:196883950C>G	uc002utj.3	-	9	914	c.813G>C	c.(811-813)TTG>TTC	p.L271F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	271	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCATTGCATTCAAGTGATCCC	0.353													G	196883950	C	G	196883950	3	3	234	1	0	0	0	0	1	0	0	0	4606	825	29	5	11489	5	DNAH7	2	196883950	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	4961198	196883950	46315423	43	117437											
CASP8	841	broad.mit.edu	37	chr2	202151284	202151295	+	In_Frame_Del	DEL	ACTAAGAAAAAA	ACTAAGAAAAAA	-													atgcctcagcctactttcacActaagaaaaaaacttgtctt							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr2:202151283_202151294CACTAAGAAAAAA>C	uc002uxr.1	+	9	1615_1626	c.1406_1417CACTAAGAAAAAA>C	c.(1405-1419)acactaagaaaaaaa>aCaa	p.LRKK470del	CASP8_uc002uxq.1_In_Frame_Del_p.LRKK455del|CASP8_uc002uxp.1_In_Frame_Del_p.LRKK487del|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_In_Frame_Del_p.LRKK529del|CASP8_uc002uxw.1_In_Frame_Del_p.LRKK455del|CASP8_uc010ftf.2_In_Frame_Del_p.LRKK386del	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	470					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.K532fs*>7(1)|p.K490fs*>7(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						CCTACTTTCACACTAAGAAAAAAACTTGTCTT	0.41										HNSCC(4;0.00038)			-	202151295	ACTAAGAAAAAA	-	202151284	7	5	234	1	0	1	0	1	0	0	0	0	2677	146	6	0	1718	0	CASP8	2	202151284	In_Frame_Del	DEL	ACTAAGAAAAAA	TCGA-EQ-A4SO-01A-11D-A25D-08	5267334	202151284	41048089	44	117438											
CCR8	1237	broad.mit.edu	37	chr3	39374532	39374532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacaagaccaaggccaTcaggttggtgctcattgtgg	11	11	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:39374532T>C	uc010hhr.2	+	2	848	c.710T>C	c.(709-711)ATC>ACC	p.I237T	CCR8_uc003cjm.2_Missense_Mutation_p.I154T	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	237	Cytoplasmic (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACCAAGGCCATCAGGTTGGTG	0.433													C	39374532	T	C	39374532	3	2	234	1	0	0	0	0	1	0	0	0	2947	1435	50	3	712	3	CCR8	3	39374532	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08		39374532	158647898	45	117439											
TLR9	54106	broad.mit.edu	37	chr3	52255985	52255985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacccggctgggcagacCgggcacggcagcctgcacct	13	17	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:52255985C>T	uc003dda.1	-	2	2981	c.2347G>A	c.(2347-2349)GGT>AGT	p.G783S	TLR9_uc003ddb.2_Missense_Mutation_p.G880S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	783	Extracellular (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGGGCAGACCGGGCACGGCA	0.647													T	52255985	C	T	52255985	3	4	234	1	0	0	0	0	1	0	0	0	15955	652	23	1	755	1	TLR9	3	52255985	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	12881453	52255985	145766445	46	117440											
LRTM1	57408	broad.mit.edu	37	chr3	54952777	54952777	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaccacaccgtgggcAgagccgggccactgagcctg	14	15	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:54952777A>T	uc003dhl.2	-	3	881	c.747T>A	c.(745-747)TCT>TCA	p.S249S	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	249	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CACCGTGGGCAGAGCCGGGCC	0.632													T	54952777	A	T	54952777	2	4	234	1	0	0	0	0	0	0	0	1	9044	175	7	5		5	LRTM1	3	54952777	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	2696792	54952777	143069653	47	117441											
CASR	846	broad.mit.edu	37	chr3	122003879	122003879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacggacttagatctgacCgtccaggaaacaggtctgca	11	10	2	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:122003879C>T	uc003eev.3	+	7	3450	c.3078C>T	c.(3076-3078)ACC>ACT	p.T1026T	CASR_uc003eew.3_Silent_p.T1036T	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1026	Cytoplasmic (Potential).				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TAGATCTGACCGTCCAGGAAA	0.597													T	122003879	C	T	122003879	2	4	234	1	0	0	0	0	0	0	0	1	2682	639	23	1		1	CASR	3	122003879	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	67051102	122003879	76018551	48	117442											
MYLK	4638	broad.mit.edu	37	chr3	123359146	123359146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttacccagcctcctggCcagaccaaagtcgatgagct	9	15	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:123359146C>T	uc003ego.2	-	28	5107	c.4825G>A	c.(4825-4827)GCC>ACC	p.A1609T	MYLK_uc010hrr.2_Missense_Mutation_p.A44T|MYLK_uc011bjv.1_Missense_Mutation_p.A409T|MYLK_uc011bjw.1_Missense_Mutation_p.A1609T|MYLK_uc003egp.2_Missense_Mutation_p.A1540T|MYLK_uc003egq.2_Missense_Mutation_p.A1609T|MYLK_uc003egr.2_Missense_Mutation_p.A1540T|MYLK_uc003egs.2_Missense_Mutation_p.A1433T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1609	Protein kinase.			A -> P (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			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCTCCTGGCCAGACCAAAG	0.537													T	123359146	C	T	123359146	3	4	234	1	0	0	0	0	1	0	0	0	10056	739	26	2	947	2	MYLK	3	123359146	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1355267	123359146	74663284	49	117443											
ZNF148	7707	broad.mit.edu	37	chr3	124952748	124952748	+	Frame_Shift_Del	DEL	T	T	-													tgattttcatggcacatacgTttatgtttcaatacacgatc							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:124952748delT	uc003ehx.3	-	9	1308	c.822delA	c.(820-822)AAAfs	p.K274fs	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Frame_Shift_Del_p.K274fs|ZNF148_uc010hsa.2_Frame_Shift_Del_p.K274fs|ZNF148_uc003eia.3_Frame_Shift_Del_p.K274fs|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	274	C2H2-type 4.				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			skin(2)|ovary(1)|pancreas(1)	4						GGCACATACGTTTATGTTTCA	0.378													-	124952748	T	-	124952748	7	5	234	1	0	1	0	1	0	0	0	0	17731	1722	60	0	1566	0	ZNF148	3	124952748	Frame_Shift_Del	DEL	T	TCGA-EQ-A4SO-01A-11D-A25D-08	1593602	124952748	73069682	50	117444											
RPN1	6184	broad.mit.edu	37	chr3	128369586	128369586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggcgctgcccggcgCcggggcccaagtcccaagca	17	15	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:128369586C>G	uc003ekr.1	-	1	134	c.58G>C	c.(58-60)GCG>CCG	p.A20P	RPN1_uc011bkq.1_Intron	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	20					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		CTGCCCGGCGCCGGGGCCCAA	0.697			T	EVI1	AML								G	128369586	C	G	128369586	3	3	234	1	0	0	0	0	1	0	0	0	13607	739	26	5	1805	5	RPN1	3	128369586	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	3416838	128369586	69652844	51	117445											
DHX36	170506	broad.mit.edu	37	chr3	154024054	154024054	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attaccactgccacaagattCtgccctttctgcagctactc	5	15	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr3:154024054C>T	uc003ezy.3	-	6	925	c.844G>A	c.(844-846)GAA>AAA	p.E282K	DHX36_uc010hvq.2_Missense_Mutation_p.E282K|DHX36_uc003ezz.3_Missense_Mutation_p.E282K	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	282	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCACAAGATTCTGCCCTTTCT	0.338													T	154024054	C	T	154024054	3	4	234	1	0	0	0	0	1	0	0	0	4509	922	32	4	2262	4	DHX36	3	154024054	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	25654468	154024054	43998376	52	117446											
LRPAP1	4043	broad.mit.edu	37	chr4	3521919	3521919	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaccatacttggccaagatGactaggagagaggggaggtt	15	6	0	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:3521919G>C	uc003ghi.2	-	3	436	c.351C>G	c.(349-351)GTC>GTG	p.V117V		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	117					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGGCCAAGATGACTAGGAGAG	0.547													C	3521919	G	C	3521919	2	2	234	1	0	0	0	0	0	0	0	1	8964	1304	45	5		5	LRPAP1	4	3521919	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08		3521919	187632357	53	117447											
GPR125	166647	broad.mit.edu	37	chr4	22389842	22389842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgccacgtgcattttaAtatcattgtccattgaatgt	8	8	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:22389842A>G	uc003gqm.1	-	19	3717	c.3452T>C	c.(3451-3453)ATT>ACT	p.I1151T	GPR125_uc010ieo.1_Missense_Mutation_p.I1007T|GPR125_uc003gql.1_Missense_Mutation_p.I278T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1151	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				GTGCATTTTAATATCATTGTC	0.468													G	22389842	A	G	22389842	3	3	234	1	0	0	0	0	1	0	0	0	6639	101	4	3	517	3	GPR125	4	22389842	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	18867923	22389842	168764434	54	117448											
N4BP2	55728	broad.mit.edu	37	chr4	40104250	40104253	+	Frame_Shift_Del	DEL	TCAA	TCAA	-													catcgcaggttgtagcagtcTcaatcaaaaacagaaagaac							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:40104250_40104253delTCAA	uc003guy.3	+	4	1123_1126	c.785_788delTCAA	c.(784-789)CTCAATfs	p.L262fs	N4BP2_uc010ifq.2_Frame_Shift_Del_p.L182fs|N4BP2_uc010ifr.2_Frame_Shift_Del_p.L182fs	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	262_263						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGTAGCAGTCTCAATCAAAAACAG	0.412													-	40104253	TCAA	-	40104250	7	5	234	1	0	1	0	1	0	0	0	0	10110	1551	54	0	791	0	N4BP2	4	40104250	Frame_Shift_Del	DEL	TCAA	TCGA-EQ-A4SO-01A-11D-A25D-08	17714408	40104250	151050026	55	117449											
ANK2	287	broad.mit.edu	37	chr4	114275995	114275995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agttcgtgtttcctccatagGagttaagaaagaagatgcag	11	6	0	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr4:114275995G>T	uc003ibe.3	+	38	6321	c.6221G>T	c.(6220-6222)GGA>GTA	p.G2074V	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G2089V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2041					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCTCCATAGGAGTTAAGAAA	0.473													T	114275995	G	T	114275995	3	4	234	1	0	0	0	0	1	0	0	0	621	1174	41	5	6436	5	ANK2	4	114275995	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	74171745	114275995	76878281	56	117450											
ADAMTS16	170690	broad.mit.edu	37	chr5	5191803	5191803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtccttcacaggatttGcacccataagtggaatgtgt	9	9	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:5191803G>T	uc003jdl.2	+	8	1351	c.1213G>T	c.(1213-1215)GCA>TCA	p.A405S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A405S|ADAMTS16_uc003jdj.1_Missense_Mutation_p.A405S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	405	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CACAGGATTTGCACCCATAAG	0.383													T	5191803	G	T	5191803	3	4	234	1	0	0	0	0	1	0	0	0	261	1319	46	5	1243	5	ADAMTS16	5	5191803	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08		5191803	175723457	57	117451											
DNAH5	1767	broad.mit.edu	37	chr5	13794139	13794139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccatatgttgtacccattCgtttatccacatagctctct	6	12	1	0	rs140968268		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:13794139C>T	uc003jfd.2	-	48	7958	c.7916G>A	c.(7915-7917)CGA>CAA	p.R2639Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2639	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2639Q(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGTACCCATTCGTTTATCCAC	0.368									Kartagener_syndrome				T	13794139	C	T	13794139	3	4	234	1	0	0	0	0	1	0	0	0	4604	884	31	1	6086	1	DNAH5	5	13794139	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	8602336	13794139	167121121	58	117452											
MYO10	4651	broad.mit.edu	37	chr5	16682101	16682101	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcagcacccggttggccgtGatgatcacaaacgagttggg	14	10	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:16682101G>A	uc003jft.3	-	31	4536	c.4068C>T	c.(4066-4068)ATC>ATT	p.I1356I	MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Silent_p.I235I|MYO10_uc011cnd.1_Silent_p.I713I|MYO10_uc011cne.1_Silent_p.I713I|MYO10_uc010itx.2_Silent_p.I978I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1356					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GGTTGGCCGTGATGATCACAA	0.577													A	16682101	G	A	16682101	2	1	234	1	0	0	0	0	0	0	0	1	10062	1280	45	4		4	MYO10	5	16682101	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	2887962	16682101	164233159	59	117453											
CDH6	1004	broad.mit.edu	37	chr5	31305332	31305332	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttaaagtggaagcctccAatccttatgttgagccacga	8	12	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:31305332A>C	uc003jhe.1	+	7	1377	c.1051A>C	c.(1051-1053)AAT>CAT	p.N351H	CDH6_uc003jhd.1_Missense_Mutation_p.N351H	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	351	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						GGAAGCCTCCAATCCTTATGT	0.458													C	31305332	A	C	31305332	3	2	234	1	0	0	0	0	1	0	0	0	3114	130	5	5	1073	5	CDH6	5	31305332	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	14623231	31305332	149609928	60	117454											
OXCT1	5019	broad.mit.edu	37	chr5	41850261	41850261	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actccagccccgcctgcacgGatcctctctgcaagtgtgcc	9	18	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:41850261G>C	uc003jmn.2	-	5	766	c.435C>G	c.(433-435)ATC>ATG	p.I145M		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	145					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	CGCCTGCACGGATCCTCTCTG	0.507													C	41850261	G	C	41850261	3	2	234	1	0	0	0	0	1	0	0	0	11329	1164	41	5	1179	5	OXCT1	5	41850261	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	10544929	41850261	139064999	61	117455											
TRIM23	373	broad.mit.edu	37	chr5	64890371	64890371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttagcaaaaatcaggaGcagagcatctcggagttctt	10	7	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:64890371G>A	uc003jty.2	-	10	1608	c.1522C>T	c.(1522-1524)CTC>TTC	p.L508F	TRIM23_uc003jtw.2_Missense_Mutation_p.L508F|TRIM23_uc003jtx.2_Missense_Mutation_p.L508F	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	508	ARF-like.				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			ovary(3)|lung(1)	4		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)		AAAATCAGGAGCAGAGCATCT	0.353													A	64890371	G	A	64890371	3	1	234	1	0	0	0	0	1	0	0	0	16494	971	34	2	277	2	TRIM23	5	64890371	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	23040110	64890371	116024889	62	117456											
SV2C	22987	broad.mit.edu	37	chr5	75621291	75621291	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcaccaaatcaatccccatCctgctggcttctactgtgct	5	15	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:75621291C>A	uc003kei.1	+	13	2237	c.2103C>A	c.(2101-2103)ATC>ATA	p.I701I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	701	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CAATCCCCATCCTGCTGGCTT	0.512													A	75621291	C	A	75621291	2	1	234	1	0	0	0	0	0	0	0	1	15416	845	30	5		5	SV2C	5	75621291	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	10730920	75621291	105293969	63	117457											
LHFPL2	10184	broad.mit.edu	37	chr5	77784944	77784944	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaaccccagccagcagGgtagagtatcaaaccgagga	12	12	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:77784944G>C	uc003kfo.2	-	5	1139	c.463C>G	c.(463-465)CCT>GCT	p.P155A		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	155						integral to membrane					0		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)		CAGCCAGCAGGGTAGAGTATC	0.478													C	77784944	G	C	77784944	3	2	234	1	0	0	0	0	1	0	0	0	8765	1232	43	5	227	5	LHFPL2	5	77784944	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	2163653	77784944	103130316	64	117458											
RGMB	285704	broad.mit.edu	37	chr5	98128788	98128788	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtacatgctccttcccacaGatcactattatcttcaaagc	4	13	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:98128788G>C	uc003knc.2	+	5	1171	c.769_splice	c.e5-1	p.I257_splice		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B						axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTCCCACAGATCACTATTA	0.507													C	98128788	G	C	98128788	5	2	234	1	0	0	0	0	0	0	1	0	13281	956	33	5	782	5	RGMB	5	98128788	Splice_Site	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	20343844	98128788	82786472	65	117459											
AP3S1	1176	broad.mit.edu	37	chr5	115249114	115249114	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtaaagaatatgaatcTtcctgagatcccaagaaata	7	7	1	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:115249114T>G	uc003krl.2	+	6	625	c.509T>G	c.(508-510)CTT>CGT	p.L170R	AP3S1_uc003krk.2_Missense_Mutation_p.L148R|AP3S1_uc003krm.2_Missense_Mutation_p.L134R	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	170					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AATATGAATCTTCCTGAGATC	0.388													G	115249114	T	G	115249114	3	3	234	1	0	0	0	0	1	0	0	0	749	1609	56	5	531	5	AP3S1	5	115249114	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	17120326	115249114	65666146	66	117460											
PITX1	5307	broad.mit.edu	37	chr5	134369448	134369448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctggcggagttctcgagcgGctcgcgggggtcggcgggcc	21	12	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:134369448G>C	uc010jea.2	-	1	517	c.124C>G	c.(124-126)CCG>GCG	p.P42A	uc003laj.1_Intron|PITX1_uc011cxy.1_Missense_Mutation_p.P42A	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	42						nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TTCTCGAGCGGCTCGCGGGGG	0.776													C	134369448	G	C	134369448	3	2	234	1	0	0	0	0	1	0	0	0	11954	1203	42	5	832	5	PITX1	5	134369448	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	19120334	134369448	46545812	67	117461											
SLC26A2	1836	broad.mit.edu	37	chr5	149357287	149357287	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaatgacagttatccAtctgggatccatctggaact	10	8	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:149357287A>C	uc003lrh.2	+	2	340	c.72A>C	c.(70-72)CCA>CCC	p.P24P		NM_000112	NP_000103	P50443	S26A2_HUMAN	solute carrier family 26 member 2	24	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACAGTTATCCATCTGGGATCC	0.413													C	149357287	A	C	149357287	2	2	234	1	0	0	0	0	0	0	0	1	14517	204	8	5		5	SLC26A2	5	149357287	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	14987839	149357287	31557973	68	117462											
PDGFRB	5159	broad.mit.edu	37	chr5	149510205	149510205	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcagggtggctctcacttaGctccagcactcggacaggga	13	12	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:149510205G>C	uc003lro.2	-	9	1733	c.1264C>G	c.(1264-1266)CTA>GTA	p.L422V	PDGFRB_uc010jhd.2_Missense_Mutation_p.L261V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	422	Extracellular (Potential).|Ig-like C2-type 5.				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	CTCTCACTTAGCTCCAGCACT	0.617			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	149510205	G	C	149510205	3	2	234	1	0	0	0	0	1	0	0	0	11662	962	34	5	2116	5	PDGFRB	5	149510205	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	152918	149510205	31405055	69	117463											
SOX30	11063	broad.mit.edu	37	chr5	157078924	157078924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccactgcctccccgcAcgacgaggccaaggtcgcac	12	18	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:157078924A>G	uc003lxb.1	-	1	505	c.163T>C	c.(163-165)TGC>CGC	p.C55R	SOX30_uc003lxc.1_Missense_Mutation_p.C55R|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	55					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			GCCTCCCCGCACGACGAGGCC	0.692													G	157078924	A	G	157078924	3	3	234	1	0	0	0	0	1	0	0	0	14952	159	6	3	2118	3	SOX30	5	157078924	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	7568719	157078924	23836336	70	117464											
WWC1	23286	broad.mit.edu	37	chr5	167798508	167798508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcatatgacccacagGttggagattacttcatagac	10	8	1	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:167798508G>T	uc003lzu.2	+	2	292	c.199G>T	c.(199-201)GTT>TTT	p.V67F	WWC1_uc003lzv.2_Missense_Mutation_p.V67F|WWC1_uc011den.1_Missense_Mutation_p.V67F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	67	WW 2.				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			ovary(2)|skin(2)|breast(1)	5	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)		TGACCCACAGGTTGGAGATTA	0.547													T	167798508	G	T	167798508	3	4	234	1	0	0	0	0	1	0	0	0	17408	1261	44	5	205	5	WWC1	5	167798508	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	10719584	167798508	13116752	71	117465											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555091	178555091	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatgtatttgtacgtcagtGagacccgggtgtctcccacc	10	12	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr5:178555091G>T	uc003mjw.2	-	17	2486	c.2486C>A	c.(2485-2487)TCA>TAA	p.S829*		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTACGTCAGTGAGACCCGGGT	0.572													T	178555091	G	T	178555091	4	4	234	1	0	0	0	0	0	1	0	0	265	1294	45	5	1173	5	ADAMTS2	5	178555091	Nonsense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	10756583	178555091	2360169	72	117466											
HIVEP1	3096	broad.mit.edu	37	chr6	12121963	12121978	+	Frame_Shift_Del	DEL	GCTACAAAGGCAGCAG	GCTACAAAGGCAGCAG	-													gtaggaacggtacacgcccaGctacaaaggcagcaggctac							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:12121962_12121977AGCTACAAAGGCAGCAG>A	uc003nac.3	+	3	2113_2128	c.1934_1949AGCTACAAAGGCAGCAG>A	c.(1933-1950)cagctacaaaggcagcagfs	p.Q645fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	645					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)				GTACACGCCCAGCTACAAAGGCAGCAGGCTACCGAT	0.5													-	12121978	GCTACAAAGGCAGCAG	-	12121963	7	5	234	1	0	1	0	1	0	0	0	0	7186	962	34	0	1945	0	HIVEP1	6	12121963	Frame_Shift_Del	DEL	GCTACAAAGGCAGCAG	TCGA-EQ-A4SO-01A-11D-A25D-08		12121963	158993104	73	117467											
ABCC10	89845	broad.mit.edu	37	chr6	43400111	43400111	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcatggccactcccgGggtcccttggccttggccct	10	19	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:43400111G>C	uc003ouy.1	+	3	608	c.393G>C	c.(391-393)CGG>CGC	p.R131R	ABCC10_uc003ouz.1_Silent_p.R88R	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	131						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(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)			GCCACTCCCGGGGTCCCTTGG	0.647													C	43400111	G	C	43400111	2	2	234	1	0	0	0	0	0	0	0	1	50	1219	43	5		5	ABCC10	6	43400111	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	31278148	43400111	127714956	74	117468											
C6orf154	221424	broad.mit.edu	37	chr6	43477513	43477513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgaaatctggatggagCtgggcagcatcgtgcccacg	13	14	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:43477513C>T	uc003ovk.1	-	1	912	c.11G>A	c.(10-12)AGC>AAC	p.S4N	C6orf154_uc003ovj.1_5'Flank	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	4											0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CTGGATGGAGCTGGGCAGCAT	0.562													T	43477513	C	T	43477513	3	4	234	1	0	0	0	0	1	0	0	0	2339	797	28	2	963	2	C6orf154	6	43477513	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	77402	43477513	127637554	75	117469											
TDRD6	221400	broad.mit.edu	37	chr6	46658067	46658067	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaacaaatggttcaacTgaactagttgtgcaggaaaa	10	5	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:46658067T>G	uc003oyj.2	+	1	2202	c.2202T>G	c.(2200-2202)ACT>ACG	p.T734T	TDRD6_uc010jze.2_Silent_p.T728T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	734					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ATGGTTCAACTGAACTAGTTG	0.403													G	46658067	T	G	46658067	2	3	234	1	0	0	0	0	0	0	0	1	15731	1567	55	5		5	TDRD6	6	46658067	Silent	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	3180554	46658067	124457000	76	117470											
FILIP1	27145	broad.mit.edu	37	chr6	76063347	76063347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctctaactcgtatacGgtgcgcctatgacacttctc	7	13	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:76063347G>T	uc003pia.2	-	4	910	c.537C>A	c.(535-537)ACC>ACA	p.T179T	FILIP1_uc003phy.1_Silent_p.T179T|FILIP1_uc003phz.2_Silent_p.T80T|FILIP1_uc010kbe.2_Silent_p.T182T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	179										skin(3)|ovary(1)	4						ACTCGTATACGGTGCGCCTAT	0.502													T	76063347	G	T	76063347	2	4	234	1	0	0	0	0	0	0	0	1	5894	1103	39	5		5	FILIP1	6	76063347	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	29405280	76063347	95051720	77	117471											
CNR1	1268	broad.mit.edu	37	chr6	88853985	88853985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggctaacctaatgtccaTgcgggcttggtctggccggg	14	11	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:88853985T>C	uc011dzq.1	-	2	4572	c.1009A>G	c.(1009-1011)ATG>GTG	p.M337V	CNR1_uc010kbz.2_Missense_Mutation_p.M337V|CNR1_uc011dzr.1_Missense_Mutation_p.M337V|CNR1_uc011dzs.1_Missense_Mutation_p.M337V|CNR1_uc003pmq.3_Missense_Mutation_p.M337V|CNR1_uc011dzt.1_Missense_Mutation_p.M337V|CNR1_uc010kca.2_Missense_Mutation_p.M304V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	337	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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)	CTAATGTCCATGCGGGCTTGG	0.562													C	88853985	T	C	88853985	3	2	234	1	0	0	0	0	1	0	0	0	3631	1464	51	3	413	3	CNR1	6	88853985	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	12790638	88853985	82261082	78	117472											
LAMA4	3910	broad.mit.edu	37	chr6	112486373	112486373	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgtccttacctttattatatCatcaagttctgaaagagtta	5	8	3	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:112486373C>G	uc003pvu.2	-	13	1966	c.1657G>C	c.(1657-1659)GAT>CAT	p.D553H	LAMA4_uc003pvv.2_Missense_Mutation_p.D546H|LAMA4_uc003pvt.2_Missense_Mutation_p.D546H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	553	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			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		TTTATTATATCATCAAGTTCT	0.413													G	112486373	C	G	112486373	3	3	234	1	0	0	0	0	1	0	0	0	8608	826	29	5	3922	5	LAMA4	6	112486373	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	23632388	112486373	58628694	79	117473											
LAMA2	3908	broad.mit.edu	37	chr6	129725052	129725052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggactatattgatgaagCtgagaaagttgccaaagaag	11	4	0	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr6:129725052C>T	uc003qbn.2	+	40	5918	c.5813C>T	c.(5812-5814)GCT>GTT	p.A1938V	LAMA2_uc003qbo.2_Missense_Mutation_p.A1938V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1938	Domain II and I.|Potential.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGATGAAGCTGAGAAAGTT	0.408													T	129725052	C	T	129725052	3	4	234	1	0	0	0	0	1	0	0	0	8606	797	28	2	5971	2	LAMA2	6	129725052	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	17238679	129725052	41390015	80	117474											
BMPER	168667	broad.mit.edu	37	chr7	34118785	34118785	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatggctacctcttgaaagtGaccaccaaagcaggtggggc	13	10	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr7:34118785G>C	uc011kap.1	+	12	1509	c.1395G>C	c.(1393-1395)GTG>GTC	p.V465V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	465	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				ovary(2)|central_nervous_system(1)	3						TCTTGAAAGTGACCACCAAAG	0.627													C	34118785	G	C	34118785	2	2	234	1	0	0	0	0	0	0	0	1	1468	1277	45	5		5	BMPER	7	34118785	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08		34118785	125019878	81	117475											
PKD1L1	168507	broad.mit.edu	37	chr7	47894499	47894499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccttactagcaacatgacggGaaatgcccttgtaacaggtt	9	10	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr7:47894499G>T	uc003tny.1	-	30	4840	c.4840C>A	c.(4840-4842)CCC>ACC	p.P1614T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1614	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AACATGACGGGAAATGCCCTT	0.393													T	47894499	G	T	47894499	3	4	234	1	0	0	0	0	1	0	0	0	11964	1174	41	5	3821	5	PKD1L1	7	47894499	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	13775714	47894499	111244164	82	117476											
MLL3	58508	broad.mit.edu	37	chr7	151873650	151873657	+	Frame_Shift_Del	DEL	CGGCCAGG	CGGCCAGG	-													tcatggcattatccaaaacaCggccaggcggtgctatgaaa							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr7:151873650_151873657delCGGCCAGG	uc003wla.2	-	38	9100_9107	c.8881_8888delCCTGGCCG	c.(8881-8889)CCTGGCCGTfs	p.P2961fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.P2022fs|MLL3_uc003wky.2_Frame_Shift_Del_p.P470fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2961_2963					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCCAAAACACGGCCAGGCGGTGCTATG	0.495			N		medulloblastoma								-	151873657	CGGCCAGG	-	151873650	7	5	234	1	0	1	0	1	0	0	0	0	9622	536	19	0	5935	0	MLL3	7	151873650	Frame_Shift_Del	DEL	CGGCCAGG	TCGA-EQ-A4SO-01A-11D-A25D-08	103979151	151873650	7265013	83	117477											
ADAM28	10863	broad.mit.edu	37	chr8	24170996	24170996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactcttcaagtataaccCtgatgaaaagaattatgaca	6	8	2	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:24170996C>T	uc003xdy.2	+	6	562	c.479C>T	c.(478-480)CCT>CTT	p.P160L	ADAM28_uc003xdx.2_Missense_Mutation_p.P160L|ADAM28_uc011kzz.1_Intron|ADAM28_uc011laa.1_RNA	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	160					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGTATAACCCTGATGAAAAG	0.473													T	24170996	C	T	24170996	3	4	234	1	0	0	0	0	1	0	0	0	246	681	24	4	501	4	ADAM28	8	24170996	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		24170996	122193026	84	117478											
ADRA1A	148	broad.mit.edu	37	chr8	26722311	26722311	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgatgtagtagtgcgtgactGagtgcaggtgtcggtgacag	17	6	0	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:26722311G>A	uc003xfh.1	-	1	612	c.176C>T	c.(175-177)TCA>TTA	p.S59L	ADRA1A_uc003xfc.1_Missense_Mutation_p.S59L|ADRA1A_uc010lul.1_Missense_Mutation_p.S59L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.S59L|ADRA1A_uc010lum.1_Missense_Mutation_p.S59L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.S59L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	59	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTGCGTGACTGAGTGCAGGTG	0.602													A	26722311	G	A	26722311	3	1	234	1	0	0	0	0	1	0	0	0	334	1294	45	4	1523	4	ADRA1A	8	26722311	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	2551315	26722311	119641711	85	117479											
TEX15	56154	broad.mit.edu	37	chr8	30703031	30703031	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagatatgcagtttttccaGaaaagggctgatgttcttct	9	7	2	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:30703031G>C	uc003xil.2	-	1	3503	c.3503C>G	c.(3502-3504)TCT>TGT	p.S1168C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1168										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTTTTTCCAGAAAAGGGCTG	0.358													C	30703031	G	C	30703031	3	2	234	1	0	0	0	0	1	0	0	0	15776	942	33	5	4882	5	TEX15	8	30703031	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	3980720	30703031	115660991	86	117480											
WWP1	11059	broad.mit.edu	37	chr8	87454884	87454884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcacatgaagttttgaaCccaatgtattgcttatttga	6	7	1	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:87454884C>A	uc003ydt.2	+	18	2155	c.1875C>A	c.(1873-1875)AAC>AAA	p.N625K	WWP1_uc010mai.2_Missense_Mutation_p.N401K	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	625	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			lung(1)|liver(1)	2						AAGTTTTGAACCCAATGTATT	0.313													A	87454884	C	A	87454884	3	1	234	1	0	0	0	0	1	0	0	0	17412	506	18	5	1937	5	WWP1	8	87454884	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	56751853	87454884	58909138	87	117481											
HSF1	3297	broad.mit.edu	37	chr8	145532648	145532662	+	In_Frame_Del	DEL	CAAGTACTTCAAGCA	CAAGTACTTCAAGCA	-													tttgccaaggaggtgctgccCaagtacttcaagcacaacaa							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:145532647_145532661CCAAGTACTTCAAGCA>C	uc003zbt.4	+	1	343_357	c.173_187CCAAGTACTTCAAGCA>C	c.(172-189)cccaagtacttcaagcac>cCac	p.KYFKH59del	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	59						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)			GAGGTGCTGCCCAAGTACTTCAAGCACAACAACAT	0.628													-	145532662	CAAGTACTTCAAGCA	-	145532648	7	5	234	1	0	1	0	1	0	0	0	0	7395	581	21	0	180	0	HSF1	8	145532648	In_Frame_Del	DEL	CAAGTACTTCAAGCA	TCGA-EQ-A4SO-01A-11D-A25D-08	58077764	145532648	831374	88	117482											
NFKBIL2	4796	broad.mit.edu	37	chr8	145655822	145655822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctaaggccttggggccgcTtttggagggtggacaggagc	18	8	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:145655822T>C	uc011llg.1	-	25	3923	c.3908A>G	c.(3907-3909)AAG>AGG	p.K1303R	VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1303					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			TTGGGGCCGCTTTTGGAGGGT	0.587													C	145655822	T	C	145655822	3	2	234	1	0	0	0	0	1	0	0	0	10382	1609	56	3	236	3	NFKBIL2	8	145655822	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	123174	145655822	708200	89	117483											
C8orf33	65265	broad.mit.edu	37	chr8	146278248	146278248	+	Frame_Shift_Del	DEL	G	G	-													agaaggcctcagagaaactcGccccagaagaagttccccta							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr8:146278247_146278247CG>C	uc003zfc.4	+	1	336	c.282_282CG>C	c.(280-282)ctcfs	p.L94fs	C8orf33_uc003zfd.3_Non-coding_Transcript	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	Homo sapiens chromosome 8 open reading frame 33 (C8orf33), mRNA.	94										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)		CAGAGAAACTCGCCCCAGAAG	0.582													-	146278248	G	-	146278248	7	5	234	1	0	1	0	1	0	0	0	0	2421	1087	38	0	289	0	C8orf33	8	146278248	Frame_Shift_Del	DEL	G	TCGA-EQ-A4SO-01A-11D-A25D-08	622426	146278248	85774	90	117484											
RLN2	6019	broad.mit.edu	37	chr9	5304475	5304475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcgaactaattcgcggcCgcataatttaataacttcct	7	12	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:5304475C>G	uc003zja.1	-	1	106	c.106G>C	c.(106-108)GGC>CGC	p.G36R	RLN2_uc003ziz.1_Missense_Mutation_p.G36R	NM_134441	NP_604390	P04090	REL2_HUMAN	relaxin 2 isoform 1 preproprotein	36					female pregnancy	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		AATTCGCGGCCGCATAATTTA	0.498													G	5304475	C	G	5304475	3	3	234	1	0	0	0	0	1	0	0	0	13392	652	23	5	564	5	RLN2	9	5304475	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		5304475	135908956	91	117485											
C9orf79	286234	broad.mit.edu	37	chr9	90500146	90500146	+	Silent	SNP	G	G	C													tttcctccttcaccacagccGcatggtcccctggcctcctc							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:90500146G>C	uc004app.3	+	4	779	c.744G>C	c.(742-744)CCG>CCC	p.P248P	C9orf79_uc004apo.1_Silent_p.P60P	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	248	Pro-rich.					integral to membrane				ovary(3)	3						CACCACAGCCGCATGGTCCCC	0.627													C	90500146	G	C	90500146	2	2	234	1	0	0	0	0	0	0	0	1	2497	1074	38	5		5	C9orf79	9	90500146	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	85195671	90500146	50713285	92	117486	563	2									
C9orf79	286234	broad.mit.edu	37	chr9	90500153	90500153	+	Missense_Mutation	SNP	C	C	A													cttcaccacagccgcatggtCccctggcctcctctccacct							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:90500153C>A	uc004app.3	+	4	786	c.751C>A	c.(751-753)CCC>ACC	p.P251T	C9orf79_uc004apo.1_Missense_Mutation_p.P63T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	251	Pro-rich.					integral to membrane				ovary(3)	3						GCCGCATGGTCCCCTGGCCTC	0.622													A	90500153	C	A	90500153	3	1	234	1	0	0	0	0	1	0	0	0	2497	855	30	5	765	5	C9orf79	9	90500153	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	7	90500153	50713278	93	117487	563	2									
PTPDC1	138639	broad.mit.edu	37	chr9	96860706	96860706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttggttgaacatgaaaccCaggacagtaaagatctgtct	9	8	3	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:96860706C>G	uc004auf.1	+	7	2036	c.1696C>G	c.(1696-1698)CAG>GAG	p.Q566E	PTPDC1_uc004aug.1_Missense_Mutation_p.Q566E|PTPDC1_uc004auh.1_Missense_Mutation_p.Q618E|PTPDC1_uc010mrj.1_Missense_Mutation_p.Q620E|PTPDC1_uc010mri.1_Missense_Mutation_p.Q618E	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	566							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						ACATGAAACCCAGGACAGTAA	0.527													G	96860706	C	G	96860706	3	3	234	1	0	0	0	0	1	0	0	0	12773	595	21	5	1960	5	PTPDC1	9	96860706	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	6360553	96860706	44352725	94	117488											
ABCA1	19	broad.mit.edu	37	chr9	107553271	107553278	+	Frame_Shift_Del	DEL	TGATTTTC	TGATTTTC	-													gttaacatcttgaaagttgaTgattttccagccccattaac							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:107553270_107553277ATGATTTTC>A	uc004bcl.3	-	43	6257_6264	c.5853_5860GAAAATCAT>T	c.(5851-5862)ggaaaatcatcafs	p.G1951fs		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1951	ABC transporter 2.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|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	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor 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)	TTGAAAGTTGATGATTTTCCAGCCCCAT	0.38													-	107553278	TGATTTTC	-	107553271	7	5	234	1	0	1	0	1	0	0	0	0	28	1451	51	0	954	0	ABCA1	9	107553271	Frame_Shift_Del	DEL	TGATTTTC	TCGA-EQ-A4SO-01A-11D-A25D-08	10692565	107553271	33660160	95	117489											
CRB2	286204	broad.mit.edu	37	chr9	126132605	126132605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccacagttacgtctgcCactgcccacctggtacccat	9	16	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:126132605C>T	uc004bnx.1	+	7	1365	c.1273C>T	c.(1273-1275)CAC>TAC	p.H425Y	CRB2_uc004bnw.1_Missense_Mutation_p.H425Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	425	Extracellular (Potential).|EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TTACGTCTGCCACTGCCCACC	0.622													T	126132605	C	T	126132605	3	4	234	1	0	0	0	0	1	0	0	0	3849	594	21	4	1299	4	CRB2	9	126132605	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	18579334	126132605	15080826	96	117490											
SET	6418	broad.mit.edu	37	chr9	131455034	131455034	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatattaaatcaggttacaGaatagattttgtaagtatct	7	3	2	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:131455034G>C	uc004bvt.3	+	4	648	c.407G>C	c.(406-408)AGA>ACA	p.R136T	SET_uc004bvu.3_Missense_Mutation_p.R123T|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.R112T	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	136					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TCAGGTTACAGAATAGATTTT	0.373			T	NUP214	AML								C	131455034	G	C	131455034	3	2	234	1	0	0	0	0	1	0	0	0	14128	942	33	5	498	5	SET	9	131455034	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	5322429	131455034	9758397	97	117491											
SEC16A	9919	broad.mit.edu	37	chr9	139357381	139357381	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agctccctgaacctctcggtCtctctctcgagcgagctggc	10	16	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr9:139357381C>G	uc004chx.2	-	12	5160	c.4851G>C	c.(4849-4851)GAG>GAC	p.E1617D	SEC16A_uc004chv.3_Missense_Mutation_p.E1007D|SEC16A_uc004chw.2_Missense_Mutation_p.E1617D|SEC16A_uc010nbn.2_Missense_Mutation_p.E1617D	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1439					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACCTCTCGGTCTCTCTCTCGA	0.632													G	139357381	C	G	139357381	3	3	234	1	0	0	0	0	1	0	0	0	13986	912	32	5	2306	5	SEC16A	9	139357381	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	7902347	139357381	1856050	98	117492											
CTNNA3	29119	broad.mit.edu	37	chr10	68535241	68535241	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttacacatgttgtcTaaagcaatattcagggtatt	7	7	4	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr10:68535241T>A	uc009xpn.1	-	8	1212	c.1089A>T	c.(1087-1089)TTA>TTT	p.L363F	CTNNA3_uc001jmw.2_Missense_Mutation_p.L363F|CTNNA3_uc001jmx.3_Missense_Mutation_p.L363F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	363	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						ACATGTTGTCTAAAGCAATAT	0.368													A	68535241	T	A	68535241	3	1	234	1	0	0	0	0	1	0	0	0	4014	1519	53	5	1642	5	CTNNA3	10	68535241	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08		68535241	66999506	99	117493											
TNKS2	80351	broad.mit.edu	37	chr10	93611020	93611020	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggcacaaggagctgaaggaGattggaatcaatgcttatgg	15	5	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr10:93611020G>T	uc001khp.2	+	21	3039	c.2742G>T	c.(2740-2742)GAG>GAT	p.E914D		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	914	SAM.				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			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				AGCTGAAGGAGATTGGAATCA	0.373													T	93611020	G	T	93611020	3	4	234	1	0	0	0	0	1	0	0	0	16318	933	33	5	2824	5	TNKS2	10	93611020	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	25075779	93611020	41923727	100	117494											
DMBT1	1755	broad.mit.edu	37	chr10	124396810	124396818	+	In_Frame_Del	DEL	CTGCGGCAC	CTGCGGCAC	-													ttcacaattccctactcaggCtgcggcaccttcaagcaggt							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr10:124396810_124396818delCTGCGGCAC	uc001lgk.1	+	51	6643_6651	c.6537_6545delCTGCGGCAC	c.(6535-6546)GGCTGCGGCACC>GGC	p.CGT2180del	DMBT1_uc001lgl.1_In_Frame_Del_p.CGT2170del|DMBT1_uc001lgm.1_In_Frame_Del_p.CGT1552del|DMBT1_uc009xzz.1_In_Frame_Del_p.CGT2179del|DMBT1_uc010qtx.1_In_Frame_Del_p.CGT900del|DMBT1_uc009yab.1_In_Frame_Del_p.CGT883del|DMBT1_uc009yac.1_In_Frame_Del_p.CGT474del	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2180_2182	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTACTCAGGCTGCGGCACCTTCAAGCAG	0.507													-	124396818	CTGCGGCAC	-	124396810	7	5	234	1	0	1	0	1	0	0	0	0	4577	784	28	0	6739	0	DMBT1	10	124396810	In_Frame_Del	DEL	CTGCGGCAC	TCGA-EQ-A4SO-01A-11D-A25D-08	30785790	124396810	11137937	101	117495											
OR52E8	390079	broad.mit.edu	37	chr11	5878629	5878629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatgtgagaaaggcagcCtccaaaagatatttctttgg	10	7	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:5878629C>T	uc010qzr.1	-	1	304	c.304G>A	c.(304-306)GGC>AGC	p.G102S	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		GAAAGGCAGCCTCCAAAAGAT	0.473													T	5878629	C	T	5878629	3	4	234	1	0	0	0	0	1	0	0	0	11118	681	24	4	651	4	OR52E8	11	5878629	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		5878629	129127887	102	117496											
DBX1	120237	broad.mit.edu	37	chr11	20181547	20181547	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggcgttcactccaaacttCagaaacgtcgtctcgctggc	9	13	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:20181547C>T	uc001mpw.1	-	1	324	c.324G>A	c.(322-324)CTG>CTA	p.L108L		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	108					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCCAAACTTCAGAAACGTCG	0.662													T	20181547	C	T	20181547	2	4	234	1	0	0	0	0	0	0	0	1	4259	813	29	4		4	DBX1	11	20181547	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	14302918	20181547	114824969	103	117497											
HARBI1	283254	broad.mit.edu	37	chr11	46637422	46637422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggaggcttcatcagcTggaaagcgaatgaactgtga	13	6	2	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:46637422T>C	uc001ncy.2	-	2	614	c.366A>G	c.(364-366)CCA>CCG	p.P122P	KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	122						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CTTCATCAGCTGGAAAGCGAA	0.517													C	46637422	T	C	46637422	2	2	234	1	0	0	0	0	0	0	0	1	6958	1567	55	3		3	HARBI1	11	46637422	Silent	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	26455875	46637422	88369094	104	117498											
F2	2147	broad.mit.edu	37	chr11	46747627	46747627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtgcagctggtggagAacttctgccgcaacccagac	12	13	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:46747627A>T	uc001ndf.3	+	7	821	c.778A>T	c.(778-780)AAC>TAC	p.N260Y	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	260	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		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)	GCTGGTGGAGAACTTCTGCCG	0.627													T	46747627	A	T	46747627	3	4	234	1	0	0	0	0	1	0	0	0	5342	246	9	5	804	5	F2	11	46747627	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	110205	46747627	88258889	105	117499											
OR4C15	81309	broad.mit.edu	37	chr11	55321947	55321947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttttccttgggaaacatGcaaaaccaaagctttgtaac	6	9	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:55321947G>A	uc010rig.1	+	1	165	c.165G>A	c.(163-165)ATG>ATA	p.M55I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGGGAAACATGCAAAACCAAA	0.363										HNSCC(20;0.049)			A	55321947	G	A	55321947	3	1	234	1	0	0	0	0	1	0	0	0	11048	1319	46	2	167	2	OR4C15	11	55321947	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	8574320	55321947	79684569	106	117500											
ESRRA	2101	broad.mit.edu	37	chr11	64081441	64081441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagcatcgagtacagctGtccggcctccaacgagtgtg	14	11	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:64081441G>A	uc001nzq.1	+	3	521	c.344G>A	c.(343-345)TGT>TAT	p.C115Y	ESRRA_uc001nzr.1_Missense_Mutation_p.C115Y|ESRRA_uc001nzs.1_Missense_Mutation_p.C115Y|ESRRA_uc009ypn.1_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	115	NR C4-type.|Nuclear receptor.				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				0						GAGTACAGCTGTCCGGCCTCC	0.672													A	64081441	G	A	64081441	3	1	234	1	0	0	0	0	1	0	0	0	5260	1377	48	4	350	4	ESRRA	11	64081441	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	8759494	64081441	70925075	107	117501											
EFEMP2	30008	broad.mit.edu	37	chr11	65638628	65638628	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcagtccccactcacCcacacagctgtcctgatcgt	7	18	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:65638628C>G	uc001ofy.3	-	4	561	c.367G>C	c.(367-369)GAT>CAT	p.D123H	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D123H	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	123	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		CCCCACTCACCCACACAGCTG	0.632													G	65638628	C	G	65638628	3	3	234	1	0	0	0	0	1	0	0	0	4942	637	22	5	996	5	EFEMP2	11	65638628	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1557187	65638628	69367888	108	117502											
GUCY1A2	2977	broad.mit.edu	37	chr11	106647285	106647285	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagccctgctgcaacacaGtaggcatcacctattgtttc	9	12	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:106647285G>T	uc001pjg.1	-	6	2106	c.1716C>A	c.(1714-1716)TAC>TAA	p.Y572*	GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.Y593*|GUCY1A2_uc009yxn.1_Nonsense_Mutation_p.Y572*	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	572	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.Y572Y(1)		large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		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)		CTGCAACACAGTAGGCATCAC	0.443													T	106647285	G	T	106647285	4	4	234	1	0	0	0	0	0	1	0	0	6893	1024	36	5	494	5	GUCY1A2	11	106647285	Nonsense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	41008657	106647285	28359231	109	117503											
ZBTB16	7704	broad.mit.edu	37	chr11	113935245	113935245	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcggagagcagtgcagcgTgtgtggggtcgagcttcctg	17	9	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:113935245T>A	uc001pop.2	+	2	1487	c.1223T>A	c.(1222-1224)GTG>GAG	p.V408E	ZBTB16_uc001poo.1_Missense_Mutation_p.V408E|ZBTB16_uc001poq.2_Missense_Mutation_p.V408E	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	408	C2H2-type 1.				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)|skin(1)	2		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)		CAGTGCAGCGTGTGTGGGGTC	0.637													A	113935245	T	A	113935245	3	1	234	1	0	0	0	0	1	0	0	0	17523	1696	59	5	1225	5	ZBTB16	11	113935245	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	7287960	113935245	21071271	110	117504											
CADM1	23705	broad.mit.edu	37	chr11	115049487	115049487	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcgagccttcttcacctgCtcgggaatctgttaaaatca	8	11	4	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:115049487C>A	uc001ppi.3	-	9	1216	c.1087G>T	c.(1087-1089)GCA>TCA	p.A363S	CADM1_uc001ppf.3_Missense_Mutation_p.A335S|CADM1_uc001ppk.3_Missense_Mutation_p.A335S|CADM1_uc001ppj.3_Missense_Mutation_p.A364S|CADM1_uc001pph.3_Missense_Mutation_p.A126S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	363	Extracellular (Potential).				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			ovary(2)	2	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)		TCTTCACCTGCTCGGGAATCT	0.557													A	115049487	C	A	115049487	3	1	234	1	0	0	0	0	1	0	0	0	2566	797	28	5	249	5	CADM1	11	115049487	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1114242	115049487	19957029	111	117505											
SIK3	23387	broad.mit.edu	37	chr11	116734399	116734399	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attacctgctgcagctgtttGatgctgctgttgttgcccat	10	10	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:116734399G>C	uc001ppy.2	-	15	1806	c.1770C>G	c.(1768-1770)ATC>ATG	p.I590M	SIK3_uc001ppz.2_Missense_Mutation_p.I489M|SIK3_uc001pqa.2_Missense_Mutation_p.I590M|SIK3_uc001ppw.2_Missense_Mutation_p.I7M|SIK3_uc001ppx.2_Nonsense_Mutation_p.S65*|SIK3_uc001pqb.2_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	590						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GCAGCTGTTTGATGCTGCTGT	0.577													C	116734399	G	C	116734399	3	2	234	1	0	0	0	0	1	0	0	0	14319	1280	45	5	2057	5	SIK3	11	116734399	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	1684912	116734399	18272117	112	117506											
VPS11	55823	broad.mit.edu	37	chr11	118942531	118942531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccttatcattgtctccCgtgaccggaaggtttctccc	8	14	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:118942531C>T	uc010ryx.1	+	6	904	c.862C>T	c.(862-864)CGT>TGT	p.R288C	VPS11_uc010ryy.1_Missense_Mutation_p.R134C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	288					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	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)		CATTGTCTCCCGTGACCGGAA	0.517													T	118942531	C	T	118942531	3	4	234	1	0	0	0	0	1	0	0	0	17185	652	23	1	879	1	VPS11	11	118942531	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	2208132	118942531	16063985	113	117507											
OR10G9	219870	broad.mit.edu	37	chr11	123894205	123894205	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccagaccatattgacTttccatttgccctactgtgg	8	12	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:123894205T>A	uc010sad.1	+	1	486	c.486T>A	c.(484-486)ACT>ACA	p.T162T		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		CCATATTGACTTTCCATTTGC	0.552													A	123894205	T	A	123894205	2	1	234	1	0	0	0	0	0	0	0	1	10904	1596	56	5		5	OR10G9	11	123894205	Silent	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	4951674	123894205	11112311	114	117508											
OR8A1	390275	broad.mit.edu	37	chr11	124440783	124440783	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctatggatcaactgcattCatgtacttaaaaccctccac	4	12	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:124440783C>A	uc010san.1	+	1	819	c.819C>A	c.(817-819)TTC>TTA	p.F273L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	273	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CAACTGCATTCATGTACTTAA	0.512													A	124440783	C	A	124440783	3	1	234	1	0	0	0	0	1	0	0	0	11225	825	29	5	821	5	OR8A1	11	124440783	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	546578	124440783	10565733	115	117509											
SIAE	54414	broad.mit.edu	37	chr11	124543599	124543599	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccgagtacaagccccggcgcGaccatgcttgcaaggatctg	12	14	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr11:124543599G>C	uc001qan.2	-	1	119	c.6C>G	c.(4-6)GTC>GTG	p.V2V	SIAE_uc001qao.1_Silent_p.V2V|SPA17_uc001qap.2_5'Flank	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN	sialate O-acetylesterase precursor	2						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity				0	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)		GCCCCGGCGCGACCATGCTTG	0.701													C	124543599	G	C	124543599	2	2	234	1	0	0	0	0	0	0	0	1	14298	1045	37	5		5	SIAE	11	124543599	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	102816	124543599	10462917	116	117510											
GAPDH	2597	broad.mit.edu	37	chr12	6647143	6647156	+	Frame_Shift_Del	DEL	TTTGTCAAGCTCAT	TTTGTCAAGCTCAT	-													gcattgccctcaacgaccacTttgtcaagctcatttcctgg					rs11549334		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:6647143_6647156delTTTGTCAAGCTCAT	uc001qop.1	+	8	1021_1034	c.919_932delTTTGTCAAGCTCAT	c.(919-933)TTTGTCAAGCTCATTfs	p.F307fs	GAPDH_uc009zep.1_Frame_Shift_Del_p.F265fs|GAPDH_uc001qoq.1_Frame_Shift_Del_p.F232fs|GAPDH_uc001qor.1_Frame_Shift_Del_p.F266fs|GAPDH_uc001qos.1_Frame_Shift_Del_p.F307fs|GAPDH_uc001qot.1_Frame_Shift_Del_p.F307fs|GAPDH_uc001qou.1_Frame_Shift_Del_p.F266fs|GAPDH_uc001qov.1_Frame_Shift_Del_p.F265fs|GAPDH_uc001qow.1_Frame_Shift_Del_p.F260fs|GAPDH_uc001qox.1_Frame_Shift_Del_p.F133fs	NM_002046	NP_002037	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	307_311					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding				0					NADH(DB00157)	CAACGACCACTTTGTCAAGCTCATTTCCTGGTAT	0.57											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	6647156	TTTGTCAAGCTCAT	-	6647143	7	5	234	1	0	1	0	1	0	0	0	0	6236	1609	56	0	945	0	GAPDH	12	6647143	Frame_Shift_Del	DEL	TTTGTCAAGCTCAT	TCGA-EQ-A4SO-01A-11D-A25D-08		6647143	127204752	117	117511											
FOXJ2	55810	broad.mit.edu	37	chr12	8203212	8203212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcagcaggatacaatcgCccaggtaagagctaagaagc	11	10	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:8203212C>T	uc001qtu.2	+	10	2717	c.1632C>T	c.(1630-1632)CGC>CGT	p.R544R		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					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 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			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		GATACAATCGCCCAGGTAAGA	0.507													T	8203212	C	T	8203212	2	4	234	1	0	0	0	0	0	0	0	1	6012	726	26	2		2	FOXJ2	12	8203212	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1556069	8203212	125648683	118	117512											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:25398284C>A	uc001rgp.1	-	2	216	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			A	25398284	C	A	25398284	3	1	234	1	0	0	0	0	1	0	0	0	8438	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	17195072	25398284	108453611	119	117513											
RAPGEF3	10411	broad.mit.edu	37	chr12	48132941	48132941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacctttgagaagaagggGcatgaaggggatgacaggag	17	4	0	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:48132941G>A	uc009zkp.2	-	23	2760	c.2320C>T	c.(2320-2322)CCC>TCC	p.P774S	uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Missense_Mutation_p.P109S|RAPGEF3_uc001rpx.2_Missense_Mutation_p.P231S|RAPGEF3_uc010sln.1_Missense_Mutation_p.P271S|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.P774S|RAPGEF3_uc001rpz.3_Missense_Mutation_p.P816S	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	774					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			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGAAGAAGGGGCATGAAGGGG	0.368													A	48132941	G	A	48132941	3	1	234	1	0	0	0	0	1	0	0	0	13045	1203	42	2	345	2	RAPGEF3	12	48132941	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	22734657	48132941	85718954	120	117514											
WNT1	7471	broad.mit.edu	37	chr12	49373285	49373285	+	Frame_Shift_Del	DEL	C	C	-													tagcctcctccacgaacctgCttacagactccaagagtctg							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:49373284_49373284GC>G	uc001rsu.3	+	1	336	c.138_138GC>G	c.(136-138)ctgfs	p.L46fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	46					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|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 DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|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	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)		CCACGAACCTGCTTACAGACT	0.557													-	49373285	C	-	49373285	7	5	234	1	0	1	0	1	0	0	0	0	17378	797	28	0	145	0	WNT1	12	49373285	Frame_Shift_Del	DEL	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1240344	49373285	84478610	121	117515											
TROAP	10024	broad.mit.edu	37	chr12	49724003	49724003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtgtgtccctcttaatGgaggctcttctctggatatg	11	10	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:49724003G>A	uc001rtx.3	+	13	1542	c.1375G>A	c.(1375-1377)GGA>AGA	p.G459R	TROAP_uc009zlh.2_Missense_Mutation_p.G459R|TROAP_uc001rty.2_Missense_Mutation_p.G167R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	459					cell adhesion	cytoplasm				ovary(1)	1						CCCTCTTAATGGAGGCTCTTC	0.542													A	49724003	G	A	49724003	3	1	234	1	0	0	0	0	1	0	0	0	16572	1349	47	4	1523	4	TROAP	12	49724003	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	350718	49724003	84127892	122	117516											
MFSD5	84975	broad.mit.edu	37	chr12	53647296	53647296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaactggggggagaactAtgaccggcagcgtgccttct	14	10	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:53647296A>G	uc001sci.1	+	2	868	c.677A>G	c.(676-678)TAT>TGT	p.Y226C	MFSD5_uc001sch.1_Missense_Mutation_p.Y333C	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	226					transport	integral to membrane				skin(2)|ovary(1)	3						GGGGAGAACTATGACCGGCAG	0.642													G	53647296	A	G	53647296	3	3	234	1	0	0	0	0	1	0	0	0	9534	449	16	3	1004	3	MFSD5	12	53647296	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	3923293	53647296	80204599	123	117517											
MAP3K12	7786	broad.mit.edu	37	chr12	53880372	53880372	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgagcccacccactgcagGtccaggatttcctcaaaggg	10	15	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:53880372G>C	uc001sdm.1	-	4	479	c.381C>G	c.(379-381)GAC>GAG	p.D127E	MAP3K12_uc001sdn.1_Missense_Mutation_p.D160E	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	127	Protein kinase.				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			lung(2)|ovary(1)|breast(1)|skin(1)	5						CCCACTGCAGGTCCAGGATTT	0.612													C	53880372	G	C	53880372	3	2	234	1	0	0	0	0	1	0	0	0	9246	1252	44	5	2246	5	MAP3K12	12	53880372	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	233076	53880372	79971523	124	117518											
LRP1	4035	broad.mit.edu	37	chr12	57572689	57572689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcccaatccctgtgaGgccaatgggggccagggccc	13	16	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:57572689G>C	uc001snd.2	+	28	5089	c.4623G>C	c.(4621-4623)GAG>GAC	p.E1541D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1541	EGF-like 7.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCCCTGTGAGGCCAATGGGG	0.622													C	57572689	G	C	57572689	3	2	234	1	0	0	0	0	1	0	0	0	8951	991	35	5	4733	5	LRP1	12	57572689	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	3692317	57572689	76279206	125	117519											
NAV3	89795	broad.mit.edu	37	chr12	78415549	78415549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacattcagaaaatgaaggtAccgctttaccatcggctgac	8	11	1	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:78415549A>G	uc001syp.2	+	9	2103	c.1930A>G	c.(1930-1932)ACC>GCC	p.T644A	NAV3_uc001syo.2_Missense_Mutation_p.T644A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	644						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AAATGAAGGTACCGCTTTACC	0.403										HNSCC(70;0.22)			G	78415549	A	G	78415549	3	3	234	1	0	0	0	0	1	0	0	0	10185	391	14	3	1964	3	NAV3	12	78415549	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	20842860	78415549	55436346	126	117520											
LHX5	64211	broad.mit.edu	37	chr12	113909163	113909163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttgcagtagagcttgccCtcgcgcgagaagcacttctc	10	12	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr12:113909163C>G	uc001tvj.1	-	1	715	c.141G>C	c.(139-141)GAG>GAC	p.E47D		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	47	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGAGCTTGCCCTCGCGCGAGA	0.612													G	113909163	C	G	113909163	3	3	234	1	0	0	0	0	1	0	0	0	8774	680	24	5	1087	5	LHX5	12	113909163	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	35493614	113909163	19942732	127	117521											
SACS	26278	broad.mit.edu	37	chr13	23930063	23930063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctttgagattccaacAttggcctgattcatgtgggc	10	9	3	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:23930063A>G	uc001uon.2	-	8	1277	c.688T>C	c.(688-690)TGT>CGT	p.C230R	SACS_uc001uoo.2_Missense_Mutation_p.C83R|SACS_uc001uop.1_Missense_Mutation_p.C17R|SACS_uc001uoq.1_Missense_Mutation_p.C83R	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	230					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		AGATTCCAACATTGGCCTGAT	0.373													G	23930063	A	G	23930063	3	3	234	1	0	0	0	0	1	0	0	0	13804	217	8	3	13063	3	SACS	13	23930063	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08		23930063	91239815	128	117522											
GPR12	2835	broad.mit.edu	37	chr13	27333438	27333438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagttccagcccatgAcgggcagcagccccaggcag	15	14	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:27333438A>C	uc010aal.2	-	2	749	c.527T>G	c.(526-528)GTC>GGC	p.V176G	GPR12_uc010tdl.1_Missense_Mutation_p.V17G	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	176	Helical; Name=4; (Potential).					integral to plasma membrane					0	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)		CCAGCCCATGACGGGCAGCAG	0.597													C	27333438	A	C	27333438	3	2	234	1	0	0	0	0	1	0	0	0	6635	275	10	5	481	5	GPR12	13	27333438	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	3403375	27333438	87836440	129	117523											
GTF2F2	2963	broad.mit.edu	37	chr13	45694803	45694803	+	Frame_Shift_Del	DEL	G	G	-													gcagacccatggccgagcgcGgggaactcgacttgaccggc							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:45694803delG	uc001uzw.2	+	1	173	c.13delG	c.(13-15)GGGfs	p.G5fs	GTF2F2_uc001uzv.2_Frame_Shift_Del_p.G5fs	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	5					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				0		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)		GGCCGAGCGCGGGGAACTCGA	0.622													-	45694803	G	-	45694803	7	5	234	1	0	1	0	1	0	0	0	0	6859	1116	39	0	15	0	GTF2F2	13	45694803	Frame_Shift_Del	DEL	G	TCGA-EQ-A4SO-01A-11D-A25D-08	18361365	45694803	69475075	130	117524											
FAM155A	728215	broad.mit.edu	37	chr13	107822920	107822920	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgtgttctgtgctgcCgaggctgtgagcactgtgtg	16	10	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr13:107822920C>G	uc001vql.2	-	3	1818	c.1302G>C	c.(1300-1302)TCG>TCC	p.S434S		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	434	Helical; (Potential).					integral to membrane	binding			skin(1)	1						TCTGTGCTGCCGAGGCTGTGA	0.512													G	107822920	C	G	107822920	2	3	234	1	0	0	0	0	0	0	0	1	5465	639	23	5		5	FAM155A	13	107822920	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	62128117	107822920	7346958	131	117525											
PSMA6	5687	broad.mit.edu	37	chr14	35778166	35778166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcacttattcaagataaCtgaaaacattggttgtgtga	8	6	2	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:35778166C>A	uc001wtd.2	+	3	327	c.218C>A	c.(217-219)ACT>AAT	p.T73N	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Translation_Start_Site|PSMA6_uc010tpu.1_Translation_Start_Site	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	73					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				0	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)		TTCAAGATAACTGAAAACATT	0.299													A	35778166	C	A	35778166	3	1	234	1	0	0	0	0	1	0	0	0	12671	565	20	5	228	5	PSMA6	14	35778166	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		35778166	71571374	132	117526											
FSCB	84075	broad.mit.edu	37	chr14	44975763	44975763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctacaggggggatgttcAtcatggtccagtatcctgta	11	8	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:44975763A>G	uc001wvn.2	-	1	737	c.428T>C	c.(427-429)ATG>ACG	p.M143T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	143						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GGGGATGTTCATCATGGTCCA	0.418													G	44975763	A	G	44975763	3	3	234	1	0	0	0	0	1	0	0	0	6066	217	8	3	2053	3	FSCB	14	44975763	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	9197597	44975763	62373777	133	117527											
PYGL	5836	broad.mit.edu	37	chr14	51383422	51383422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcagggatcgcgagtgCagggtgagtgtcattcagct	15	9	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:51383422C>T	uc001wyu.2	-	9	1157	c.1030G>A	c.(1030-1032)GCA>ACA	p.A344T	PYGL_uc010tqq.1_Missense_Mutation_p.A310T|PYGL_uc001wyv.2_Missense_Mutation_p.A18T|PYGL_uc010anz.1_Missense_Mutation_p.A147T	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	344				AL -> RI (in Ref. 1; AAA52577).	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			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATCGCGAGTGCAGGGTGAGTG	0.483													T	51383422	C	T	51383422	3	4	234	1	0	0	0	0	1	0	0	0	12861	710	25	2	1561	2	PYGL	14	51383422	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	6407659	51383422	55966118	134	117528											
KIAA1409	57578	broad.mit.edu	37	chr14	93944063	93944063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttagcacatcttttctacCaatggctatatgtaagtcca	5	10	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:93944063C>A	uc001ybv.1	+	1	160	c.77C>A	c.(76-78)CCA>CAA	p.P26Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.P26Q|KIAA1409_uc001ybu.1_Missense_Mutation_p.P26Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	203						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TCTTTTCTACCAATGGCTATA	0.348													A	93944063	C	A	93944063	3	1	234	1	0	0	0	0	1	0	0	0	8230	594	21	5	79	5	KIAA1409	14	93944063	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	42560641	93944063	13405477	135	117529											
FAM181A	90050	broad.mit.edu	37	chr14	94395422	94395423	+	Frame_Shift_Del	DEL	AG	AG	-													ggatgtggacggcctggggcAgaaggtgtgcaggcccgtgg							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr14:94395422_94395423delAG	uc001ybz.1	+	3	1284_1285	c.977_978delAG	c.(976-978)CAGfs	p.Q326fs	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Frame_Shift_Del_p.Q264fs|FAM181A_uc001yca.1_Frame_Shift_Del_p.Q264fs	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	326											0						GGCCTGGGGCAGAAGGTGTGCA	0.649													-	94395423	AG	-	94395422	7	5	234	1	0	1	0	1	0	0	0	0	5508	188	7	0	983	0	FAM181A	14	94395422	Frame_Shift_Del	DEL	AG	TCGA-EQ-A4SO-01A-11D-A25D-08	451359	94395422	12954118	136	117530											
NDN	4692	broad.mit.edu	37	chr15	23931799	23931799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatcatgagcaggaggCctgtcatgggcatgcggttg	16	8	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:23931799C>T	uc001ywk.2	-	1	652	c.566G>A	c.(565-567)GGC>GAC	p.G189D		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	189	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		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)		GAGCAGGAGGCCTGTCATGGG	0.657									Prader-Willi_syndrome				T	23931799	C	T	23931799	3	4	234	1	0	0	0	0	1	0	0	0	10247	739	26	2	403	2	NDN	15	23931799	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		23931799	78599593	137	117531											
OCA2	4948	broad.mit.edu	37	chr15	28263631	28263631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccaggacgactcggcCcactggccactagggcccct	10	20	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:28263631C>A	uc001zbh.3	-	7	829	c.719G>T	c.(718-720)GGG>GTG	p.G240V	OCA2_uc010ayv.2_Missense_Mutation_p.G240V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	240	Extracellular (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		ACGACTCGGCCCACTGGCCAC	0.637									Oculocutaneous_Albinism				A	28263631	C	A	28263631	3	1	234	1	0	0	0	0	1	0	0	0	10815	623	22	5	1869	5	OCA2	15	28263631	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	4331832	28263631	74267761	138	117532											
APBA2	321	broad.mit.edu	37	chr15	29393862	29393862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgacattgggaacattGtagtgctgatggccagacgc	13	10	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:29393862G>T	uc001zck.2	+	9	1606	c.1399G>T	c.(1399-1401)GTA>TTA	p.V467L	APBA2_uc010azj.2_Missense_Mutation_p.V455L|APBA2_uc010uat.1_Missense_Mutation_p.V455L|APBA2_uc001zcl.2_Missense_Mutation_p.V455L|APBA2_uc001zcm.1_Missense_Mutation_p.V159L	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	467	PID.				nervous system development|protein transport		protein binding				0		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)		TGGGAACATTGTAGTGCTGAT	0.582													T	29393862	G	T	29393862	3	4	234	1	0	0	0	0	1	0	0	0	757	1377	48	5	1425	5	APBA2	15	29393862	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	1130231	29393862	73137530	139	117533											
VPS13C	54832	broad.mit.edu	37	chr15	62173134	62173134	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatttttaaggccatttcctGaatgaggaccataaaatacc	6	8	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:62173134G>A	uc002agz.2	-	72	9870	c.9796C>T	c.(9796-9798)CAG>TAG	p.Q3266*	VPS13C_uc002aha.2_Nonsense_Mutation_p.Q3223*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.Q3266*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.Q3223*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3266					protein localization					ovary(2)	2						GCCATTTCCTGAATGAGGACC	0.318													A	62173134	G	A	62173134	4	1	234	1	0	0	0	0	0	1	0	0	17188	1299	45	4	1549	4	VPS13C	15	62173134	Nonsense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	32779272	62173134	40358258	140	117534											
IQGAP1	8826	broad.mit.edu	37	chr15	91020002	91020002	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcaaggctttgagcaaggaGaagagagagaagttggaagc	15	5	1	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr15:91020002G>C	uc002bpl.1	+	24	2993	c.2892G>C	c.(2890-2892)GAG>GAC	p.E964D		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	964	C1.				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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			TGAGCAAGGAGAAGAGAGAGA	0.348													C	91020002	G	C	91020002	3	2	234	1	0	0	0	0	1	0	0	0	7814	933	33	5	2986	5	IQGAP1	15	91020002	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	28846868	91020002	11511390	141	117535											
TPSD1	23430	broad.mit.edu	37	chr16	1308365	1308365	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gggcccctggtctgcaaggtGaatggcacctaactgcaggc	14	12	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:1308365G>C	uc002clb.1	+	5	726	c.717G>C	c.(715-717)GTG>GTC	p.V239V		NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	239	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				TCTGCAAGGTGAATGGCACCT	0.642													C	1308365	G	C	1308365	2	2	234	1	0	0	0	0	0	0	0	1	16422	1277	45	5		5	TPSD1	16	1308365	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08		1308365	89046388	142	117536											
CASKIN1	57524	broad.mit.edu	37	chr16	2236780	2236780	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcattgcccgtccggttgtCatggatgcagcccttccacc	10	15	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:2236780C>A	uc010bsg.1	-	10	1008	c.976G>T	c.(976-978)GAC>TAC	p.D326Y		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	326	SH3.				signal transduction	cytoplasm				skin(2)	2						GTCCGGTTGTCATGGATGCAG	0.662													A	2236780	C	A	2236780	3	1	234	1	0	0	0	0	1	0	0	0	2666	826	29	5	3363	5	CASKIN1	16	2236780	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	928415	2236780	88117973	143	117537											
SRRM2	23524	broad.mit.edu	37	chr16	2811985	2811985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatggggaggtcccgtAgccctgccaccgctaagaga	15	11	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:2811985A>G	uc002crk.2	+	11	2005	c.1456A>G	c.(1456-1458)AGC>GGC	p.S486G	SRRM2_uc002crj.1_Missense_Mutation_p.S390G|SRRM2_uc002crl.1_Missense_Mutation_p.S486G|SRRM2_uc010bsu.1_Missense_Mutation_p.S390G	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	486	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAGGTCCCGTAGCCCTGCCAC	0.562													G	2811985	A	G	2811985	3	3	234	1	0	0	0	0	1	0	0	0	15168	420	15	3	1494	3	SRRM2	16	2811985	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	575205	2811985	87542768	144	117538											
MYH11	4629	broad.mit.edu	37	chr16	15931924	15931924	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttcttgccattctccacCagctccacaaccacctcatc	2	20	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:15931924C>A	uc002ddy.2	-	2	293	c.186G>T	c.(184-186)CTG>CTT	p.L62L	MYH11_uc002ddv.2_Silent_p.L62L|MYH11_uc002ddw.2_Silent_p.L62L|MYH11_uc002ddx.2_Silent_p.L62L|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Silent_p.L62L	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	62	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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CATTCTCCACCAGCTCCACAA	0.587			T	CBFB	AML								A	15931924	C	A	15931924	2	1	234	1	0	0	0	0	0	0	0	1	10031	581	21	5		5	MYH11	16	15931924	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	13119939	15931924	74422829	145	117539											
RNF40	9810	broad.mit.edu	37	chr16	30779423	30779423	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctctctgcctttgcaGctccgggcccaggccagtgg	11	16	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:30779423G>C	uc002dzq.2	+	13	1675	c.1552_splice	c.e13-1	p.L518_splice	RNF40_uc010caa.2_Splice_Site_p.L518_splice|RNF40_uc010cab.2_Splice_Site_p.L418_splice|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Splice_Site_p.L518_splice|RNF40_uc010vfb.1_Splice_Site_p.L210_splice|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40						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(1)	1			Colorectal(24;0.198)			TGCCTTTGCAGCTCCGGGCCC	0.617													C	30779423	G	C	30779423	5	2	234	1	0	0	0	0	0	0	1	0	13493	985	34	5	1597	5	RNF40	16	30779423	Splice_Site	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	14847499	30779423	59575330	146	117540											
PHKB	5257	broad.mit.edu	37	chr16	47533725	47533725	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctttcccactaaaacAtgcggtggtgaccagaaggc	11	11	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:47533725A>C	uc002eev.3	+	3	277	c.225A>C	c.(223-225)ACA>ACC	p.T75T	PHKB_uc010vgi.1_Silent_p.T68T|PHKB_uc002eeu.3_Silent_p.T68T	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	75					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CCACTAAAACATGCGGTGGTG	0.507													C	47533725	A	C	47533725	2	2	234	1	0	0	0	0	0	0	0	1	11845	204	8	5		5	PHKB	16	47533725	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	16754302	47533725	42821028	147	117541											
CBFB	865	broad.mit.edu	37	chr16	67100583	67100583	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatccttttctgtgtcttAggtatatttgaaggctccca	7	9	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:67100583A>C	uc002era.2	+	4	544	c.283_splice	c.e4-2	p.V95_splice	CBFB_uc002erb.2_Splice_Site_p.V95_splice|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2						transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TCTGTGTCTTAGGTATATTTG	0.343			T	MYH11	AML								C	67100583	A	C	67100583	5	2	234	1	0	0	0	0	0	0	1	0	2699	434	15	5	295	5	CBFB	16	67100583	Splice_Site	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	19566858	67100583	23254170	148	117542											
BCMO1	53630	broad.mit.edu	37	chr16	81303874	81303888	+	In_Frame_Del	DEL	CATCGTGTTTGACGT	CATCGTGTTTGACGT	-													gcctacgaagaggacggctgCatcgtgtttgacgtcattgc					rs148824103		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:81303874_81303888delCATCGTGTTTGACGT	uc002fgn.1	+	7	1172_1186	c.954_968delCATCGTGTTTGACGT	c.(952-969)TGCATCGTGTTTGACGTC>TGC	p.IVFDV319del	BCMO1_uc010vnp.1_In_Frame_Del_p.IVFDV250del	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	319_323					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						AGGACGGCTGCATCGTGTTTGACGTCATTGCCTAC	0.558													-	81303888	CATCGTGTTTGACGT	-	81303874	7	5	234	1	0	1	0	1	0	0	0	0	1384	718	25	0	980	0	BCMO1	16	81303874	In_Frame_Del	DEL	CATCGTGTTTGACGT	TCGA-EQ-A4SO-01A-11D-A25D-08	14203291	81303874	9050879	149	117543											
ADAD2	161931	broad.mit.edu	37	chr16	84229450	84229450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcggaaggtggcctccCgcacagcccacccatgcgcc	10	20	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr16:84229450C>T	uc002fhr.2	+	7	1196	c.1082C>T	c.(1081-1083)CCG>CTG	p.P361L	ADAD2_uc002fhq.2_Missense_Mutation_p.P443L|uc002fhs.1_Intron	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	361	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						GGTGGCCTCCCGCACAGCCCA	0.706													T	84229450	C	T	84229450	3	4	234	1	0	0	0	0	1	0	0	0	232	652	23	1	1358	1	ADAD2	16	84229450	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	2925576	84229450	6125303	150	117544											
PSMB6	5694	broad.mit.edu	37	chr17	4701662	4701662	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggggtagagcggcaagTacttttgggagaccagatac	15	7	1	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:4701662T>A	uc002fzb.2	+	6	698	c.665T>A	c.(664-666)GTA>GAA	p.V222E		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	222					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			ovary(2)	2						GAGCGGCAAGTACTTTTGGGA	0.542													A	4701662	T	A	4701662	3	1	234	1	0	0	0	0	1	0	0	0	12681	1638	57	5	687	5	PSMB6	17	4701662	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08		4701662	76493548	151	117545			1	57		2	2	15	N	T_C	8.863608e-05
PSMB6	5694	broad.mit.edu	37	chr17	4701676	4701676	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagtacttttgggagacCagatacccaaattcgccgtt	10	10	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:4701676C>T	uc002fzb.2	+	6	712	c.679C>T	c.(679-681)CAG>TAG	p.Q227*		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	227					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			ovary(2)	2						TTTGGGAGACCAGATACCCAA	0.517													T	4701676	C	T	4701676	4	4	234	1	0	0	0	0	0	1	0	0	12681	595	21	4	701	4	PSMB6	17	4701676	Nonsense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	14	4701676	76493534	152	117546			1	57		2	2	15	N	T_C	8.863608e-05
TOP3A	7156	broad.mit.edu	37	chr17	18205295	18205295	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataccatctttgtggtcatgAgttactatattaaggagaga	9	5	2	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:18205295A>T	uc002gsx.1	-	8	1048	c.819T>A	c.(817-819)ACT>ACA	p.T273T	TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.T171T|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	273					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						TGTGGTCATGAGTTACTATAT	0.398													T	18205295	A	T	18205295	2	4	234	1	0	0	0	0	0	0	0	1	16364	291	11	5		5	TOP3A	17	18205295	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	13503619	18205295	62989915	153	117547											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847844	40847844	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctgtcctgctctacGtcagttcctttgttcgtgac	8	15	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:40847844G>C	uc002iay.2	+	19	3514	c.3298G>C	c.(3298-3300)GTC>CTC	p.V1100L	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	1100	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTGCTCTACGTCAGTTCCTT	0.602													C	40847844	G	C	40847844	3	2	234	1	0	0	0	0	1	0	0	0	3646	1145	40	5	3372	5	CNTNAP1	17	40847844	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	22642549	40847844	40347366	154	117548											
SLC4A1	6521	broad.mit.edu	37	chr17	42340029	42340029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctccatctgggactcGgggatgtctgggtcttcata	13	11	4	0	rs56387601		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:42340029G>A	uc002igf.3	-	3	230	c.81C>T	c.(79-81)CCC>CCT	p.P27P	SLC4A1_uc002igg.3_Silent_p.P27P	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	27	Cytoplasmic.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597													A	42340029	G	A	42340029	2	1	234	1	0	0	0	0	0	0	0	1	14650	1103	39	1		1	SLC4A1	17	42340029	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	1492185	42340029	38855181	155	117549											
WNT9B	7484	broad.mit.edu	37	chr17	44954024	44954024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgccaggtgcagtggtgCtgctacgtggagtgccagca	15	11	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:44954024C>T	uc002ikw.1	+	4	1051	c.1014C>T	c.(1012-1014)TGC>TGT	p.C338C	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	338					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGCAGTGGTGCTGCTACGTGG	0.652													T	44954024	C	T	44954024	2	4	234	1	0	0	0	0	0	0	0	1	17396	805	28	2		2	WNT9B	17	44954024	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	2613995	44954024	36241186	156	117550											
NPEPPS	9520	broad.mit.edu	37	chr17	45695716	45695716	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttatcttttttcctgtagCttcataaacaagcagatatg	5	8	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:45695716C>G	uc002ilr.3	+	20	2519	c.2296C>G	c.(2296-2298)CTT>GTT	p.L766V	NPEPPS_uc010wkt.1_Missense_Mutation_p.L762V|NPEPPS_uc010wku.1_Missense_Mutation_p.L730V|NPEPPS_uc010wkv.1_Missense_Mutation_p.L320V|NPEPPS_uc002ils.1_Missense_Mutation_p.L199V	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	766					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0						TTTCCTGTAGCTTCATAAACA	0.393													G	45695716	C	G	45695716	3	3	234	1	0	0	0	0	1	0	0	0	10575	811	28	5	2374	5	NPEPPS	17	45695716	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	741692	45695716	35499494	157	117551											
KPNB1	3837	broad.mit.edu	37	chr17	45755730	45755730	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggaaagctgcttggaagcCtatactggaatcgtccaggg	14	8	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:45755730C>G	uc002ilt.1	+	19	2640	c.2304C>G	c.(2302-2304)GCC>GCG	p.A768A	KPNB1_uc010wkw.1_Silent_p.A623A|KPNB1_uc010wkx.1_Silent_p.A552A	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	768					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GCTTGGAAGCCTATACTGGAA	0.468													G	45755730	C	G	45755730	2	3	234	1	0	0	0	0	0	0	0	1	8435	668	24	5		5	KPNB1	17	45755730	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	60014	45755730	35439480	158	117552											
OSBPL7	114881	broad.mit.edu	37	chr17	45893948	45893948	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccttctgggccagggcccaGaagctgcgctgcaggtgggc	16	14	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:45893948G>C	uc002ilx.1	-	10	1112	c.909C>G	c.(907-909)TTC>TTG	p.F303L	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	303					lipid transport		lipid binding				0						CCAGGGCCCAGAAGCTGCGCT	0.657													C	45893948	G	C	45893948	3	2	234	1	0	0	0	0	1	0	0	0	11282	933	33	5	1675	5	OSBPL7	17	45893948	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	138218	45893948	35301262	159	117553											
NFE2L1	4779	broad.mit.edu	37	chr17	46134756	46134757	+	Frame_Shift_Ins	INS	-	-	C													cagtgcctagtgagagtgagINSccccctgctcttcaaaacaa							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:46134756_46134757insC	uc002imz.3	+	5	1515_1516	c.864_865insC	c.(862-867)GAGCCCfs	p.E288fs	NFE2L1_uc002ina.3_Frame_Shift_Ins_p.E258fs|NFE2L1_uc002inb.3_Frame_Shift_Ins_p.E258fs|NFE2L1_uc010wle.1_Frame_Shift_Ins_p.E100fs|NFE2L1_uc010wlf.1_Frame_Shift_Ins_p.E132fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	288_289					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			skin(1)	1						GTGAGAGTGAGCCCCCTGCTCT	0.485													C	46134757	-	C	46134756	7	5	234	1	0	1	1	0	0	0	0	0	10367	962	34	0	878	0	NFE2L1	17	46134756	Frame_Shift_Ins	INS	-	TCGA-EQ-A4SO-01A-11D-A25D-08	240808	46134756	35060454	160	117554	564	2									
NFE2L1	4779	broad.mit.edu	37	chr17	46134757	46134758	+	Frame_Shift_Ins	INS	-	-	C													agtgcctagtgagagtgagcINScccctgctcttcaaaacaac							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:46134756_46134757G>GC	uc002imz.4	+	4	1515_1516	c.864_865G>GC	c.(862-867)gagcccfs	p.E288fs	NFE2L1_uc002ina.4_Frame_Shift_Ins_p.E258fs|NFE2L1_uc002inb.4_Frame_Shift_Ins_p.E258fs|NFE2L1_uc010wle.2_Frame_Shift_Ins_p.E100fs|NFE2L1_uc010wlf.2_Frame_Shift_Ins_p.E132fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	288	Asp/Glu-rich (acidic).				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						GTGAGAGTGAGCCCCCTGCTCT	0.485													C	46134758	-	C	46134757	7	5	234	1	0	1	1	0	0	0	0	0	10367	739	26	0	879	0	NFE2L1	17	46134757	Frame_Shift_Ins	INS	-	TCGA-EQ-A4SO-01A-11D-A25D-08	1	46134757	35060453	161	117555	564	2									
KIF2B	84643	broad.mit.edu	37	chr17	51902390	51902390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaattattactagctgacCtccacgtgaagagcaaggta	9	8	0	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:51902390C>T	uc002iua.2	+	1	2152	c.1996C>T	c.(1996-1998)CTC>TTC	p.L666F	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	666	Potential.				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			ovary(5)|skin(3)	8						ACTAGCTGACCTCCACGTGAA	0.438													T	51902390	C	T	51902390	3	4	234	1	0	0	0	0	1	0	0	0	8298	681	24	4	1998	4	KIF2B	17	51902390	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	5767633	51902390	29292820	162	117556											
MED13	9969	broad.mit.edu	37	chr17	60042586	60042586	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cactattcaagttggaggatGatgaagatgaagttgaagct	12	4	1	5			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:60042586G>C	uc002izo.2	-	20	4702	c.4625C>G	c.(4624-4626)TCA>TGA	p.S1542*		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1542	Ser-rich.				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			large_intestine(1)|ovary(1)	2						GTTGGAGGATGATGAAGATGA	0.433													C	60042586	G	C	60042586	4	2	234	1	0	0	0	0	0	1	0	0	9430	1294	45	5	1943	5	MED13	17	60042586	Nonsense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	8140196	60042586	21152624	163	117557											
KCNH6	81033	broad.mit.edu	37	chr17	61613061	61613061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgggctattgaagacagCgcggctgctgcggctggtgc	17	9	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:61613061C>T	uc002jay.2	+	6	1213	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	KCNH6_uc002jax.1_Missense_Mutation_p.A378V|KCNH6_uc010wpl.1_Missense_Mutation_p.A255V|KCNH6_uc010wpm.1_Missense_Mutation_p.A378V|KCNH6_uc002jaz.1_Missense_Mutation_p.A378V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	378	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TTGAAGACAGCGCGGCTGCTG	0.602													T	61613061	C	T	61613061	3	4	234	1	0	0	0	0	1	0	0	0	8036	768	27	1	1155	1	KCNH6	17	61613061	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	1570475	61613061	19582149	164	117558											
FOXK2	3607	broad.mit.edu	37	chr17	80545096	80545096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaaactgtaacacaaaaCggcactcacgtggcatcagt	7	10	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr17:80545096C>T	uc002kfn.2	+	8	1905	c.1734C>T	c.(1732-1734)AAC>AAT	p.N578N	FOXK2_uc002kfm.1_Silent_p.N578N|FOXK2_uc010diu.2_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	578					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				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TAACACAAAACGGCACTCACG	0.567													T	80545096	C	T	80545096	2	4	234	1	0	0	0	0	0	0	0	1	6015	535	19	1		1	FOXK2	17	80545096	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	18932035	80545096	650114	165	117559											
MYOM1	8736	broad.mit.edu	37	chr18	3126706	3126706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgtgcttaccttgtatGcctcctcactgacagccttg	8	14	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr18:3126706G>A	uc002klp.2	-	19	3318	c.2984C>T	c.(2983-2985)GCA>GTA	p.A995V	MYOM1_uc002klq.2_Missense_Mutation_p.A899V	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	995	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TACCTTGTATGCCTCCTCACT	0.507													A	3126706	G	A	3126706	3	1	234	1	0	0	0	0	1	0	0	0	10091	1319	46	2	2153	2	MYOM1	18	3126706	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08		3126706	74950542	166	117560											
ABCA7	10347	broad.mit.edu	37	chr19	1041564	1041564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcttcttcatcctggtggCtgttcgccactcccacccgc	7	19	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:1041564C>G	uc002lqw.3	+	3	353	c.122C>G	c.(121-123)GCT>GGT	p.A41G	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Missense_Mutation_p.A41G	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	41	Helical; (Potential).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		ATCCTGGTGGCTGTTCGCCAC	0.632													G	1041564	C	G	1041564	3	3	234	1	0	0	0	0	1	0	0	0	37	797	28	5	128	5	ABCA7	19	1041564	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		1041564	58087419	167	117561											
MUC16	94025	broad.mit.edu	37	chr19	8999536	8999536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggtgcagatggcatccaCtttggtggctgccccatcct	12	12	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:8999536C>A	uc002mkp.2	-	56	40843	c.40639G>T	c.(40639-40641)GTG>TTG	p.V13547L	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.V364L|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATGGCATCCACTTTGGTGGCT	0.582													A	8999536	C	A	8999536	3	1	234	1	0	0	0	0	1	0	0	0	9973	565	20	5	3000	5	MUC16	19	8999536	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	7957972	8999536	50129447	168	117562											
MUC16	94025	broad.mit.edu	37	chr19	9090173	9090173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacactggttgatgctggggGtctctctgttttcatgctag	12	9	3	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:9090173G>T	uc002mkp.2	-	1	1846	c.1642C>A	c.(1642-1644)CCC>ACC	p.P548T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	548	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGCTGGGGGTCTCTCTGTT	0.517													T	9090173	G	T	9090173	3	4	234	1	0	0	0	0	1	0	0	0	9973	1261	44	5	42217	5	MUC16	19	9090173	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	90637	9090173	50038810	169	117563											
ZNF700	90592	broad.mit.edu	37	chr19	12060327	12060327	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaattcatgaaaggacagaAaaacacataagaatgccctc	6	9	1	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:12060327A>G	uc002msu.2	+	4	1614	c.1488A>G	c.(1486-1488)GAA>GAG	p.E496E	ZNF700_uc010xme.1_Silent_p.E514E|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	496	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGGACAGAAAAACACATAA	0.378													G	12060327	A	G	12060327	2	3	234	1	0	0	0	0	0	0	0	1	18101	11	1	3		3	ZNF700	19	12060327	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	2970154	12060327	47068656	170	117564											
RFX1	5989	broad.mit.edu	37	chr19	14104517	14104517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggctgaggggtggcagCagcggtgggtggctgcgggg	25	6	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:14104517C>T	uc002mxv.2	-	2	411	c.139G>A	c.(139-141)GCT>ACT	p.A47T	RFX1_uc010dzi.2_Missense_Mutation_p.A47T	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	47					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ggggtggcagcagcggtgggt	0.134													T	14104517	C	T	14104517	3	4	234	1	0	0	0	0	1	0	0	0	13262	710	25	2	2880	2	RFX1	19	14104517	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	2044190	14104517	45024466	171	117565											
BRD4	23476	broad.mit.edu	37	chr19	15367029	15367029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttttctttggtttgttctGctggggctgagagagggctg	15	6	2	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:15367029G>T	uc002nar.2	-	9	1819	c.1597C>A	c.(1597-1599)CAG>AAG	p.Q533K	BRD4_uc002nas.2_Missense_Mutation_p.Q533K|BRD4_uc002nat.3_Missense_Mutation_p.Q533K|BRD4_uc002nau.3_Missense_Mutation_p.Q533K	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	533					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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ggtttgttctgctGGGGCTGA	0.289			T	NUT|C15orf55	lethal midline carcinoma of young people								T	15367029	G	T	15367029	3	4	234	1	0	0	0	0	1	0	0	0	1504	1328	46	5	2554	5	BRD4	19	15367029	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	1262512	15367029	43761954	172	117566											
ZNF254	9534	broad.mit.edu	37	chr19	24310227	24310227	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatttatatggtcctcAaccctaactagacataagag	7	9	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:24310227A>G	uc002nru.2	+	4	1559	c.1425A>G	c.(1423-1425)TCA>TCG	p.S475S	ZNF254_uc010xrk.1_Silent_p.S390S	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	475	C2H2-type 10.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TATGGTCCTCAACCCTAACTA	0.393													G	24310227	A	G	24310227	2	3	234	1	0	0	0	0	0	0	0	1	17795	117	5	3		3	ZNF254	19	24310227	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	8943198	24310227	34818756	173	117567											
TSHZ3	57616	broad.mit.edu	37	chr19	31770079	31770079	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttgctggcccccgtgaagAtggagccatagagcttgctg	13	11	0	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:31770079A>T	uc002nsy.3	-	2	685	c.620T>A	c.(619-621)ATC>AAC	p.I207N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	207					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCCCGTGAAGATGGAGCCATA	0.622													T	31770079	A	T	31770079	3	4	234	1	0	0	0	0	1	0	0	0	16622	333	12	5	2629	5	TSHZ3	19	31770079	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	7459852	31770079	27358904	174	117568											
GGN	199720	broad.mit.edu	37	chr19	38876924	38876924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgggacgcaggcgccgaGggaggaccagagcacccttc	16	13	0	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:38876924G>A	uc002oij.1	-	3	1113	c.978C>T	c.(976-978)CCC>CCT	p.P326P	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P243P	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	326	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGCGCCGAGGGAGGACCAG	0.692													A	38876924	G	A	38876924	2	1	234	1	0	0	0	0	0	0	0	1	6358	987	35	4		4	GGN	19	38876924	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	7106845	38876924	20252059	175	117569											
LTBP4	8425	broad.mit.edu	37	chr19	41131900	41131900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggactgcgccctctgccCtgcgcaggactcaggtgctg	13	15	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:41131900C>T	uc002ooh.1	+	31	4172	c.4172C>T	c.(4171-4173)CCT>CTT	p.P1391L	LTBP4_uc002oog.1_Missense_Mutation_p.P1354L|LTBP4_uc002ooi.1_Missense_Mutation_p.P1324L|LTBP4_uc002ooj.1_Missense_Mutation_p.P264L|LTBP4_uc002ook.1_Missense_Mutation_p.P525L|LTBP4_uc002ool.1_Missense_Mutation_p.P403L|LTBP4_uc010xvp.1_Missense_Mutation_p.P151L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1391	TB 4.				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)			GCCCTCTGCCCTGCGCAGGAC	0.652													T	41131900	C	T	41131900	3	4	234	1	0	0	0	0	1	0	0	0	9076	681	24	4	4582	4	LTBP4	19	41131900	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	2254976	41131900	17997083	176	117570											
CIC	23152	broad.mit.edu	37	chr19	42794003	42794003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctccactccctcagctgAcgatggcttcggcaccactg	8	18	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:42794003A>G	uc002otf.1	+	9	1404	c.1364A>G	c.(1363-1365)GAC>GGC	p.D455G		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCTCAGCTGACGATGGCTTC	0.607			T	DUX4	soft tissue sarcoma								G	42794003	A	G	42794003	3	3	234	1	0	0	0	0	1	0	0	0	3424	275	10	3	1398	3	CIC	19	42794003	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	1662103	42794003	16334980	177	117571											
PSG3	5671	broad.mit.edu	37	chr19	43233472	43233472	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcaggacaagtagaggTtttctcctgaatggtaatag	12	6	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:43233472T>G	uc002oue.2	-	5	1178	c.1046A>C	c.(1045-1047)AAC>ACC	p.N349T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.N349T|PSG3_uc010eil.2_Missense_Mutation_p.N371T	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	349	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CAAGTAGAGGTTTTCTCCTGA	0.463													G	43233472	T	G	43233472	3	3	234	1	0	0	0	0	1	0	0	0	12656	1725	60	5	248	5	PSG3	19	43233472	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	439469	43233472	15895511	178	117572											
POLD1	5424	broad.mit.edu	37	chr19	50906310	50906310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcctcctgcctcgcagGcatcttccctgagcctgagc	9	17	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:50906310G>T	uc002psb.3	+	9	1027	c.971G>T	c.(970-972)GGC>GTC	p.G324V	POLD1_uc002psc.3_Missense_Mutation_p.G324V|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.G324V	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	324					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			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCTCGCAGGCATCTTCCCT	0.697								DNA_polymerases_(catalytic_subunits)					T	50906310	G	T	50906310	3	4	234	1	0	0	0	0	1	0	0	0	12190	1217	42	5	1001	5	POLD1	19	50906310	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	7672838	50906310	8222673	179	117573											
UBE2S	27338	broad.mit.edu	37	chr19	55915847	55915847	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccagcatatggggtcccctCtggagtggagggaggggtac	17	9	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:55915847C>G	uc002qkx.1	-	3	520	c.152_splice	c.e3-1	p.E51_splice		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S						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				0	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)		GGGGTCCCCTCTGGAGTGGAG	0.592													G	55915847	C	G	55915847	5	3	234	1	0	0	0	0	0	0	1	0	16869	927	32	5	525	5	UBE2S	19	55915847	Splice_Site	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	5009537	55915847	3213136	180	117574											
NLRP13	126204	broad.mit.edu	37	chr19	56410202	56410202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcactccatcatcctgaAgatcattttctcccaaatcc	3	15	4	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr19:56410202A>C	uc010ygg.1	-	10	2916	c.2891T>G	c.(2890-2892)CTT>CGT	p.L964R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	964	LRR 6.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCATCCTGAAGATCATTTTC	0.463													C	56410202	A	C	56410202	3	2	234	1	0	0	0	0	1	0	0	0	10475	72	3	5	246	5	NLRP13	19	56410202	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	494355	56410202	2718781	181	117575											
CST9	128822	broad.mit.edu	37	chr20	23586247	23586247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggatgtggtcaccaacCtttctgtccatgctatcctc	8	12	2	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:23586247C>T	uc002wtl.2	-	1	364	c.255G>A	c.(253-255)AAG>AAA	p.K85K		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	cystatin 9 precursor	85						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)					GGTCACCAACCTTTCTGTCCA	0.527													T	23586247	C	T	23586247	2	4	234	1	0	0	0	0	0	0	0	1	3979	695	24	4		4	CST9	20	23586247	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		23586247	39439273	182	117576											
TRPC4AP	26133	broad.mit.edu	37	chr20	33591321	33591321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggtacttcttgctgtgCtccatccgctgcagcagccg	12	15	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:33591321C>T	uc002xbk.2	-	18	2182	c.2148G>A	c.(2146-2148)GAG>GAA	p.E716E	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.E307E|TRPC4AP_uc002xbl.2_Silent_p.E708E|TRPC4AP_uc010zur.1_Silent_p.E677E	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	716					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCTTGCTGTGCTCCATCCGCT	0.612													T	33591321	C	T	33591321	2	4	234	1	0	0	0	0	0	0	0	1	16578	796	28	2		2	TRPC4AP	20	33591321	Silent	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	10005074	33591321	29434199	183	117577											
CEP250	11190	broad.mit.edu	37	chr20	34079123	34079123	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctagcagatgccagccaacAactggaacgactgaggcagg	13	11	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:34079123A>C	uc002xcm.2	+	23	3511	c.2840A>C	c.(2839-2841)CAA>CCA	p.Q947P	CEP250_uc010zve.1_Missense_Mutation_p.Q315P	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	947	Gln/Glu-rich.|Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCAGCCAACAACTGGAACGA	0.522													C	34079123	A	C	34079123	3	2	234	1	0	0	0	0	1	0	0	0	3252	130	5	5	2914	5	CEP250	20	34079123	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	487802	34079123	28946397	184	117578											
DLGAP4	22839	broad.mit.edu	37	chr20	35075102	35075102	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgcctggacaggtAcgggaggcagagctgagtga	16	9	0	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:35075102A>G	uc002xff.2	+	7	1845	c.1410A>G	c.(1408-1410)GTA>GTG	p.V470V	DLGAP4_uc010zvp.1_Silent_p.V470V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	470					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTGGACAGGTACGGGAGGCAG	0.637													G	35075102	A	G	35075102	2	3	234	1	0	0	0	0	0	0	0	1	4562	378	14	3		3	DLGAP4	20	35075102	Silent	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	995979	35075102	27950418	185	117579											
KIAA1755	85449	broad.mit.edu	37	chr20	36841769	36841769	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagtgagtctagtggaGgctgatcccacctccccttg	11	14	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:36841769G>C	uc002xhy.1	-	14	3550	c.3278C>G	c.(3277-3279)CCT>CGT	p.P1093R	KIAA1755_uc002xhv.1_Missense_Mutation_p.P157R|KIAA1755_uc002xhw.1_Missense_Mutation_p.P148R|KIAA1755_uc002xhx.1_Missense_Mutation_p.P371R	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1093										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GTCTAGTGGAGGCTGATCCCA	0.607													C	36841769	G	C	36841769	3	2	234	1	0	0	0	0	1	0	0	0	8257	1000	35	5	328	5	KIAA1755	20	36841769	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	1766667	36841769	26183751	186	117580											
RBPJL	11317	broad.mit.edu	37	chr20	43940873	43940873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctaggaattcggctgcGccaagaccctgtacatctca	8	16	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:43940873G>A	uc002xns.2	+	6	529	c.457G>A	c.(457-459)GCC>ACC	p.A153T	RBPJL_uc002xnt.2_Missense_Mutation_p.A153T	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	153					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ATTCGGCTGCGCCAAGACCCT	0.537											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43940873	G	A	43940873	3	1	234	1	0	0	0	0	1	0	0	0	13162	1087	38	1	479	1	RBPJL	20	43940873	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	7099104	43940873	19084647	187	117581											
KCNB1	3745	broad.mit.edu	37	chr20	48098857	48098857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcttgcccagccgcgtgCggggcaggcggtccagggta	19	12	0	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr20:48098857C>T	uc002xur.1	-	1	325	c.161G>A	c.(160-162)CGC>CAC	p.R54H	KCNB1_uc002xus.1_Missense_Mutation_p.R54H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	54	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGCCGCGTGCGGGGCAGGCG	0.667													T	48098857	C	T	48098857	3	4	234	1	0	0	0	0	1	0	0	0	8012	768	27	1	2423	1	KCNB1	20	48098857	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	4157984	48098857	14926663	188	117582											
SON	6651	broad.mit.edu	37	chr21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgttagcaactagctcaAtggattcccagatgttagca	9	8	1	2	rs142324795		TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr21:34924118A>G	uc002yse.1	+	3	2630	c.2581A>G	c.(2581-2583)ATG>GTG	p.M861V	SON_uc002ysb.1_Missense_Mutation_p.M861V|SON_uc002ysc.2_Missense_Mutation_p.M861V|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				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			ovary(4)|skin(2)	6						AACTAGCTCAATGGATTCCCA	0.493													G	34924118	A	G	34924118	3	3	234	1	0	0	0	0	1	0	0	0	14926	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08		34924118	13205777	189	117583											
MGAT3	4248	broad.mit.edu	37	chr22	39883695	39883695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcgcaccaaggccggcGgcgtctgcttcaaacccggc	13	16	2	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chr22:39883695G>A	uc003axv.3	+	2	582	c.343G>A	c.(343-345)GGC>AGC	p.G115S	MGAT3_uc010gxy.2_Missense_Mutation_p.G115S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	115	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CAAGGCCGGCGGCGTCTGCTT	0.726													A	39883695	G	A	39883695	3	1	234	1	0	0	0	0	1	0	0	0	9544	1116	39	1	345	1	MGAT3	22	39883695	Missense_Mutation	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08		39883695	11420871	190	117584											
CXorf22	170063	broad.mit.edu	37	chrX	35984819	35984819	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catcacgtatatttagctttCaacagcatctgtaaagcttc	5	10	3	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:35984819C>G	uc004ddj.2	+	9	1607	c.1548C>G	c.(1546-1548)TTC>TTG	p.F516L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	516										large_intestine(1)|lung(1)|ovary(1)	3						ATTTAGCTTTCAACAGCATCT	0.373													G	35984819	C	G	35984819	3	3	234	1	0	0	0	0	1	0	0	0	4102	825	29	5	1582	5	CXorf22	23	35984819	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		35984819	119285741	191	117585											
WNK3	65267	broad.mit.edu	37	chrX	54275887	54275913	+	In_Frame_Del	DEL	TCTTCCACTTGATAAAGTATAGCTGGC	TCTTCCACTTGATAAAGTATAGCTGGC	-													gtgccattatctgcctgttaTcttccacttgataaagtata							TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:54275887_54275913delTCTTCCACTTGATAAAGTATAGCTGGC	uc004dtd.1	-	17	3307_3333	c.2868_2894delGCCAGCTATACTTTATCAAGTGGAAGA	c.(2866-2895)CAGCCAGCTATACTTTATCAAGTGGAAGAT>CAT	p.956_965QPAILYQVED>H	WNK3_uc004dtc.1_In_Frame_Del_p.956_965QPAILYQVED>H	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	956_965					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			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CTGCCTGTTATCTTCCACTTGATAAAGTATAGCTGGCTGCTTGGTTT	0.423													-	54275913	TCTTCCACTTGATAAAGTATAGCTGGC	-	54275887	7	5	234	1	0	1	0	1	0	0	0	0	17376	1435	50	0	2540	0	WNK3	23	54275887	In_Frame_Del	DEL	TCTTCCACTTGATAAAGTATAGCTGGC	TCGA-EQ-A4SO-01A-11D-A25D-08	18291068	54275887	100994673	192	117586											
UPRT	139596	broad.mit.edu	37	chrX	74519690	74519690	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatgccaaattccccccagAcatttaccggagaaaagtcc	6	13	0	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:74519690A>T	uc004ecb.1	+	5	812	c.683A>T	c.(682-684)GAC>GTC	p.D228V	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.D228V|UPRT_uc004ece.1_Missense_Mutation_p.D92V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	228					nucleoside metabolic process	cytoplasm|nucleus					0						TTCCCCCCAGACATTTACCGG	0.413													T	74519690	A	T	74519690	3	4	234	1	0	0	0	0	1	0	0	0	17011	275	10	5	701	5	UPRT	23	74519690	Missense_Mutation	SNP	A	TCGA-EQ-A4SO-01A-11D-A25D-08	20243803	74519690	80750870	193	117587											
DRP2	1821	broad.mit.edu	37	chrX	100492725	100492725	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcagctgcccctacagggGgatgtggccctggtgcaaca	14	13	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:100492725G>T	uc004egz.2	+	5	768	c.399G>T	c.(397-399)GGG>GGT	p.G133G	DRP2_uc011mrh.1_Silent_p.G55G	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	133	Spectrin 1.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CCCTACAGGGGGATGTGGCCC	0.507													T	100492725	G	T	100492725	2	4	234	1	0	0	0	0	0	0	0	1	4764	1219	43	5		5	DRP2	23	100492725	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	25973035	100492725	54777835	194	117588											
ARMCX6	54470	broad.mit.edu	37	chrX	100871542	100871542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatggtcagtttgtaaacGcagtagcaggcaccagcccc	10	13	1	0			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:100871542G>A	uc004ehx.2	-	3	414	c.69C>T	c.(67-69)TGC>TGT	p.C23C	ARMCX6_uc004ehy.2_Silent_p.C23C	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	23	Helical; (Potential).					integral to membrane					0						GTTTGTAAACGCAGTAGCAGG	0.403													A	100871542	G	A	100871542	2	1	234	1	0	0	0	0	0	0	0	1	963	1079	38	1		1	ARMCX6	23	100871542	Silent	SNP	G	TCGA-EQ-A4SO-01A-11D-A25D-08	378817	100871542	54399018	195	117589											
RGAG1	57529	broad.mit.edu	37	chrX	109696087	109696087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggagggatgcagatgaatTccccaacctctgatgtgatg	12	9	1	4			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:109696087T>A	uc004eor.1	+	3	2488	c.2242T>A	c.(2242-2244)TCC>ACC	p.S748T	RGAG1_uc011msr.1_Missense_Mutation_p.S748T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	748								p.S748Y(1)		lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCAGATGAATTCCCCAACCTC	0.537													A	109696087	T	A	109696087	3	1	234	1	0	0	0	0	1	0	0	0	13274	1783	62	5	2244	5	RGAG1	23	109696087	Missense_Mutation	SNP	T	TCGA-EQ-A4SO-01A-11D-A25D-08	8824545	109696087	45574473	196	117590											
CD40LG	959	broad.mit.edu	37	chrX	135741371	135741371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catttatagccagcctctgcCtaaagtcccccggtagattc	7	14	1	1			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:135741371C>G	uc004faa.2	+	5	655	c.583C>G	c.(583-585)CTA>GTA	p.L195V	CD40LG_uc010nsd.2_Missense_Mutation_p.L174V	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	195	Extracellular (Potential).		L -> P (in HIGM1).		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			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CAGCCTCTGCCTAAAGTCCCC	0.483									Immune_Deficiency_with_Hyper-IgM				G	135741371	C	G	135741371	3	3	234	1	0	0	0	0	1	0	0	0	3016	680	24	5	601	5	CD40LG	23	135741371	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	26045284	135741371	19529189	197	117591											
CXorf40A	91966	broad.mit.edu	37	chrX	148627250	148627250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcaagactgtggagaCgcgctggcgtcccctgctga	14	11	1	3			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrX:148627250C>T	uc004fdb.2	+	4	346	c.74C>T	c.(73-75)ACG>ATG	p.T25M	CXorf40A_uc011mxm.1_Missense_Mutation_p.T25M|CXorf40A_uc011mxn.1_Missense_Mutation_p.T25M|CXorf40A_uc004fdd.2_Missense_Mutation_p.T25M|CXorf40A_uc004fde.1_Missense_Mutation_p.T25M|CXorf40A_uc011mxo.1_Silent_p.D114D|CXorf40A_uc004fdg.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdf.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdh.2_Missense_Mutation_p.T25M|CXorf40A_uc010nsy.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdi.2_Missense_Mutation_p.T42M	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40	25							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTGTGGAGACGCGCTGGCGT	0.612													T	148627250	C	T	148627250	3	4	234	1	0	0	0	0	1	0	0	0	4108	536	19	1	76	1	CXorf40A	23	148627250	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08	12885879	148627250	6643310	198	117592											
RPS4Y2	140032	broad.mit.edu	37	chrY	22930849	22930849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggaagataaccagctttatCaaatttgacacaggtaaggt	10	6	1	2			TCGA-EQ-A4SO-01A-11D-A25D-08	TCGA-EQ-A4SO-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150bfa0c-8ae2-4735-acd2-5bb2335b6e21	589cddca-4530-41cd-a340-24518989d830	g.chrY:22930849C>G	uc011nbb.1	+	5	615	c.519C>G	c.(517-519)ATC>ATG	p.I173M		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	173					translation	ribosome	rRNA binding|structural constituent of ribosome				0						CCAGCTTTATCAAATTTGACA	0.264													G	22930849	C	G	22930849	3	3	234	1	0	0	0	0	1	0	0	0	13647	816	29	5	537	5	RPS4Y2	24	22930849	Missense_Mutation	SNP	C	TCGA-EQ-A4SO-01A-11D-A25D-08		22930849	36442717	199	117593											
ATAD3A	55210	broad.mit.edu	37	chr1	1451391	1451391	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgtccttgcgtctgcaGgttatgccaaggacgccctg	12	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:1451391G>T	uc001afz.1	+	2	300	c.206_splice	c.e2-1	p.R69_splice	ATAD3A_uc001aga.1_Splice_Site_p.R69_splice|ATAD3A_uc001agb.1_Splice_Site	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A								ATP binding|nucleoside-triphosphatase activity|protein binding			skin(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;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)		TGCGTCTGCAGGTTATGCCAA	0.617													T	1451391	G	T	1451391	5	4	235	1	0	0	0	0	0	0	1	0	1073	1014	35	5	211	5	ATAD3A	1	1451391	Splice_Site	SNP	G	TCGA-F1-6177-01A-11D-1800-08		1451391	247799230	1	117594											
MIB2	142678	broad.mit.edu	37	chr1	1560527	1560527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgtgtgggcgaggcagCgggcggcttctactacaagg	17	9	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:1560527C>T	uc001agg.2	+	6	984	c.857C>T	c.(856-858)GCG>GTG	p.A286V	MIB2_uc001agh.2_Missense_Mutation_p.A272V|MIB2_uc001agi.2_Missense_Mutation_p.A286V|MIB2_uc001agj.2_Missense_Mutation_p.A127V|MIB2_uc001agk.2_Intron|MIB2_uc001agl.1_Missense_Mutation_p.A242V|MIB2_uc001agm.2_Intron|MIB2_uc010nyq.1_Missense_Mutation_p.A242V|MIB2_uc009vkh.2_Missense_Mutation_p.A127V|MIB2_uc001agn.2_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	286					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				0	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)		GGCGAGGCAGCGGGCGGCTTC	0.627													T	1560527	C	T	1560527	3	4	235	1	0	0	0	0	1	0	0	0	9567	768	27	1	1050	1	MIB2	1	1560527	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	109136	1560527	247690094	2	117595											
NADK	65220	broad.mit.edu	37	chr1	1685595	1685595	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggtggatcatggaggcCccggccgcggccgcatacgc	17	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:1685595C>A	uc009vkw.2	-	10	1117	c.996G>T	c.(994-996)GGG>GGT	p.G332G	NADK_uc001aic.2_Silent_p.G332G|NADK_uc001aid.3_Silent_p.G332G|NADK_uc001aie.2_Silent_p.G477G|NADK_uc010nyv.1_Silent_p.G300G|NADK_uc009vkx.1_3'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	332	Poly-Ala.				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	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)		TCATGGAGGCCCCGGCCGCGG	0.711													A	1685595	C	A	1685595	2	1	235	1	0	0	0	0	0	0	0	1	10137	610	22	5		5	NADK	1	1685595	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	125068	1685595	247565026	3	117596											
PRDM16	63976	broad.mit.edu	37	chr1	3328984	3328984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccctttaccccttcacGgaccgagccctcgcccacaa	5	21	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:3328984G>A	uc001akf.2	+	9	2303	c.2223G>A	c.(2221-2223)ACG>ACA	p.T741T	PRDM16_uc001akc.2_Silent_p.T741T|PRDM16_uc001akd.2_Silent_p.T741T|PRDM16_uc001ake.2_Silent_p.T741T|PRDM16_uc009vlh.2_Silent_p.T442T	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	741	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		ACCCCTTCACGGACCGAGCCC	0.647			T	EVI1	MDS|AML								A	3328984	G	A	3328984	2	1	235	1	0	0	0	0	0	0	0	1	12457	1103	39	1		1	PRDM16	1	3328984	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1643389	3328984	245921637	4	117597											
CCDC27	148870	broad.mit.edu	37	chr1	3680038	3680038	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagatactcccttgcaacaGgtagggcctcggcggggggc	15	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:3680038G>T	uc001akv.2	+	7	1402	c.1321G>T	c.(1321-1323)GGA>TGA	p.G441*		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	441										skin(1)	1	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)		CCTTGCAACAGGTAGGGCCTC	0.647													T	3680038	G	T	3680038	4	4	235	1	0	0	0	0	0	1	0	0	2801	1014	35	5	1347	5	CCDC27	1	3680038	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	351054	3680038	245570583	5	117598											
DFFB	1677	broad.mit.edu	37	chr1	3800152	3800152	+	Frame_Shift_Del	DEL	T	T	-													agagaagtggactgggagtaTttttatggcctgctttttac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:3800152delT	uc001alc.2	+	7	1187	c.864delT	c.(862-864)TATfs	p.Y288fs	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Frame_Shift_Del_p.Y312fs|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Frame_Shift_Del_p.Y239fs|DFFB_uc001ald.2_Frame_Shift_Del_p.Y224fs	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	288					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		ACTGGGAGTATTTTTATGGCC	0.423													-	3800152	T	-	3800152	7	5	235	1	0	1	0	1	0	0	0	0	4453	1500	52	0	890	0	DFFB	1	3800152	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	120114	3800152	245450469	6	117599											
AJAP1	55966	broad.mit.edu	37	chr1	4832433	4832433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctcacggacttcccctcGgcccgggtgcccagcagcct	10	19	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:4832433G>A	uc001alm.1	+	4	1392	c.1011G>A	c.(1009-1011)TCG>TCA	p.S337S	AJAP1_uc001aln.2_Silent_p.S337S	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	337	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	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)		ACTTCCCCTCGGCCCGGGTGC	0.617													A	4832433	G	A	4832433	2	1	235	1	0	0	0	0	0	0	0	1	438	1103	39	1		1	AJAP1	1	4832433	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1032281	4832433	244418188	7	117600											
CHD5	26038	broad.mit.edu	37	chr1	6191747	6191747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgatgccaccatcaatcCgctcatacttgtagccttcg	8	14	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:6191747C>T	uc001amb.1	-	21	3306	c.3206G>A	c.(3205-3207)CGG>CAG	p.R1069Q	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1069	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		ACCATCAATCCGCTCATACTT	0.572													T	6191747	C	T	6191747	3	4	235	1	0	0	0	0	1	0	0	0	3328	652	23	1	2742	1	CHD5	1	6191747	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1359314	6191747	243058874	8	117601											
KLHL21	9903	broad.mit.edu	37	chr1	6659390	6659390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccacgtacagcagtcCgtccagcacagaggagctgt	12	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:6659390C>T	uc001aoa.2	-	2	1196	c.1144G>A	c.(1144-1146)GGA>AGA	p.G382R	KLHL21_uc001anz.1_Missense_Mutation_p.G382R|KLHL21_uc009vme.2_Missense_Mutation_p.G15R	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	382	Kelch 2.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	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)		TACAGCAGTCCGTCCAGCACA	0.627													T	6659390	C	T	6659390	3	4	235	1	0	0	0	0	1	0	0	0	8376	661	23	1	661	1	KLHL21	1	6659390	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	467643	6659390	242591231	9	117602											
CAMTA1	23261	broad.mit.edu	37	chr1	7798362	7798362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggtgtgtctacagtacaGgtgactggaaatccgaaggg	14	6	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:7798362G>T	uc001aoi.2	+	16	4209	c.4002G>T	c.(4000-4002)CAG>CAT	p.Q1334H	CAMTA1_uc010nzv.1_Missense_Mutation_p.Q421H|CAMTA1_uc001aok.3_Missense_Mutation_p.Q377H|CAMTA1_uc001aoj.2_Missense_Mutation_p.Q290H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		CTACAGTACAGGTGACTGGAA	0.517													T	7798362	G	T	7798362	3	4	235	1	0	0	0	0	1	0	0	0	2613	991	35	5	4064	5	CAMTA1	1	7798362	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1138972	7798362	241452259	10	117603											
RERE	473	broad.mit.edu	37	chr1	8557484	8557484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctgccctcaagtacaTaaggaggtcacagtcgttaa	9	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:8557484T>C	uc001ape.2	-	10	1795	c.985A>G	c.(985-987)ATG>GTG	p.M329V	RERE_uc001apf.2_Missense_Mutation_p.M329V|RERE_uc010nzx.1_Missense_Mutation_p.M61V|RERE_uc001aph.1_Missense_Mutation_p.M329V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	329	ELM2.				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			ovary(1)|central_nervous_system(1)	2	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)		CTCAAGTACATAAGGAGGTCA	0.458													C	8557484	T	C	8557484	3	2	235	1	0	0	0	0	1	0	0	0	13231	1406	49	3	3775	3	RERE	1	8557484	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	759122	8557484	240693137	11	117604											
PIK3CD	5293	broad.mit.edu	37	chr1	9780197	9780197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgagctgctgaaccccaCgggcactgtgcgcagtaacc	14	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:9780197C>T	uc001aqb.3	+	11	1575	c.1367C>T	c.(1366-1368)ACG>ATG	p.T456M	PIK3CD_uc010oaf.1_Missense_Mutation_p.T456M|PIK3CD_uc001aqe.3_Missense_Mutation_p.T421M	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	456					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.T456T(1)		lung(4)|skin(2)|central_nervous_system(1)	7	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)		CTGAACCCCACGGGCACTGTG	0.642													T	9780197	C	T	9780197	3	4	235	1	0	0	0	0	1	0	0	0	11915	536	19	1	1401	1	PIK3CD	1	9780197	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1222713	9780197	239470424	12	117605											
CASZ1	54897	broad.mit.edu	37	chr1	10714031	10714031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgaggagcggatgtgccGgcgctcatgcttgcgcttgt	16	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:10714031G>A	uc001aro.2	-	11	2403	c.2083C>T	c.(2083-2085)CGG>TGG	p.R695W	CASZ1_uc001arp.1_Missense_Mutation_p.R695W|CASZ1_uc009vmx.2_Missense_Mutation_p.R719W	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		CGGATGTGCCGGCGCTCATGC	0.657													A	10714031	G	A	10714031	3	1	235	1	0	0	0	0	1	0	0	0	2685	1115	39	1	3244	1	CASZ1	1	10714031	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	933834	10714031	238536590	13	117606											
MTOR	2475	broad.mit.edu	37	chr1	11301720	11301720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagactgtggcatccacCtgcattgccttctgcctcct	9	14	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:11301720C>A	uc001asd.2	-	10	1552	c.1431G>T	c.(1429-1431)CAG>CAT	p.Q477H		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	477					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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TGGCATCCACCTGCATTGCCT	0.527											OREG0013097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	11301720	C	A	11301720	3	1	235	1	0	0	0	0	1	0	0	0	9954	680	24	5	6414	5	MTOR	1	11301720	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	587689	11301720	237948901	14	117607											
NPPA	4878	broad.mit.edu	37	chr1	11907422	11907422	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcccccgcttcttcattCggctcactgagcacttgtgg	10	15	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:11907422C>T	uc001ati.2	-	2	297	c.198G>A	c.(196-198)CCG>CCA	p.P66P	CLCN6_uc010oav.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oaz.1_Intron|CLCN6_uc010oba.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	66					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	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;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)		CTTCTTCATTCGGCTCACTGA	0.567													T	11907422	C	T	11907422	2	4	235	1	0	0	0	0	0	0	0	1	10591	871	31	1		1	NPPA	1	11907422	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	605702	11907422	237343199	15	117608											
PRAMEF14	729528	broad.mit.edu	37	chr1	13669140	13669140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccactggtgtggcacaacAggtccttcagggcacccata	11	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:13669140A>G	uc009vnw.1	-	4	1229	c.1046T>C	c.(1045-1047)CTG>CCG	p.L349P		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	PRAME family member 14	349											0	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)		GTGGCACAACAGGTCCTTCAG	0.542													G	13669140	A	G	13669140	3	3	235	1	0	0	0	0	1	0	0	0	12430	188	7	3	1531	3	PRAMEF14	1	13669140	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1761718	13669140	235581481	16	117609											
PRAMEF18	391003	broad.mit.edu	37	chr1	13695905	13695905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacagtccactaagaagaGggtctgaagagtggcagcaa	12	10	1	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:13695905G>T	uc009vny.1	-	3	1107	c.1060C>A	c.(1060-1062)CTC>ATC	p.L354I		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	354											0	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)		ACTAAGAAGAGGGTCTGAAGA	0.542													T	13695905	G	T	13695905	3	4	235	1	0	0	0	0	1	0	0	0	12433	1000	35	5	1835	5	PRAMEF18	1	13695905	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	26765	13695905	235554716	17	117610											
PRDM2	7799	broad.mit.edu	37	chr1	14108436	14108436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgcaacccaaaaatggCgtggtggttttagataactc	10	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:14108436C>T	uc001avi.2	+	8	5002	c.4146C>T	c.(4144-4146)GGC>GGT	p.G1382G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1382G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1181G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1382	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		CCAAAAATGGCGTGGTGGTTT	0.433													T	14108436	C	T	14108436	2	4	235	1	0	0	0	0	0	0	0	1	12458	755	27	1		1	PRDM2	1	14108436	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	412531	14108436	235142185	18	117611											
AGMAT	79814	broad.mit.edu	37	chr1	15905524	15905524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtccgtgtgcgcatccaCgtgcagcagccccactgggc	13	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:15905524C>T	uc001awv.1	-	4	693	c.550G>A	c.(550-552)GTG>ATG	p.V184M	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	184					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGCATCCACGTGCAGCAGC	0.647													T	15905524	C	T	15905524	3	4	235	1	0	0	0	0	1	0	0	0	385	536	19	1	524	1	AGMAT	1	15905524	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1797088	15905524	233345097	19	117612											
EPHA2	1969	broad.mit.edu	37	chr1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-													acactcggctctgctgcggcGgggggatgctccaggagacg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	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)	TCTGCTGCGGCGGGGGGATGC	0.662													-	16462199	G	-	16462199	7	5	235	1	0	1	0	1	0	0	0	0	5167	1116	39	0	1599	0	EPHA2	1	16462199	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	556675	16462199	232788422	20	117613											
SPATA21	374955	broad.mit.edu	37	chr1	16725948	16725950	+	In_Frame_Del	DEL	TCT	TCT	-													gctcggctgcctacggaccaTcttcttgtccagctgtgggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:16725948_16725950delTCT	uc001ayn.2	-	12	1724_1726	c.1241_1243delAGA	c.(1240-1245)AAGATG>ATG	p.K414del	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_In_Frame_Del_p.K391del	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	414							calcium ion binding			ovary(2)|breast(1)	3		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;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CTACGGACCATCTTCTTGTCCAG	0.596													-	16725950	TCT	-	16725948	7	5	235	1	0	1	0	1	0	0	0	0	15006	1435	50	0	174	0	SPATA21	1	16725948	In_Frame_Del	DEL	TCT	TCGA-F1-6177-01A-11D-1800-08	263749	16725948	232524673	21	117614											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17983195	17983195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccttgctgcttaccctcGgaccagcggtgaggactggg	14	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:17983195G>A	uc001ban.2	+	25	3011	c.2852G>A	c.(2851-2853)CGG>CAG	p.R951Q	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R912Q|ARHGEF10L_uc001bao.2_Missense_Mutation_p.R912Q|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R907Q|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R712Q|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R724Q|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R654Q|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	951					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		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)		GCTTACCCTCGGACCAGCGGT	0.652													A	17983195	G	A	17983195	3	1	235	1	0	0	0	0	1	0	0	0	895	1116	39	1	2946	1	ARHGEF10L	1	17983195	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1257247	17983195	231267426	22	117615											
AKR7A3	22977	broad.mit.edu	37	chr1	19609292	19609292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattaaaggcgtccacgacaGccggctccaggggcccttcc	12	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:19609292G>A	uc001bbv.1	-	7	1006	c.929C>T	c.(928-930)GCT>GTT	p.A310V		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	310					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCACGACAGCCGGCTCCAG	0.612													A	19609292	G	A	19609292	3	1	235	1	0	0	0	0	1	0	0	0	476	971	34	2	70	2	AKR7A3	1	19609292	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1626097	19609292	229641329	23	117616											
TMCO4	255104	broad.mit.edu	37	chr1	20009857	20009857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcaagagccccttctcGtcccagcctggcttggtgcg	12	16	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:20009857G>A	uc001bcn.2	-	16	1823	c.1581C>T	c.(1579-1581)GAC>GAT	p.D527D	TMCO4_uc001bcm.2_Silent_p.D358D|TMCO4_uc001bco.1_Silent_p.D527D|TMCO4_uc001bcp.1_Silent_p.D487D	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	527						integral to membrane					0		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)		GCCCCTTCTCGTCCCAGCCTG	0.672													A	20009857	G	A	20009857	2	1	235	1	0	0	0	0	0	0	0	1	15995	1136	40	1		1	TMCO4	1	20009857	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	400565	20009857	229240764	24	117617											
ALPL	249	broad.mit.edu	37	chr1	21889689	21889689	+	Frame_Shift_Del	DEL	G	G	-													aaggccaatgagggcaccgtGggggtaagcgcagccactga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:21889688_21889688TG>T	uc001bet.3	+	4	640	c.383_383TG>T	c.(382-384)gtgfs	p.V128fs	ALPL_uc010odo.2_Frame_Shift_Del_p.V73fs|ALPL_uc010odp.2_Frame_Shift_Del_p.V51fs|ALPL_uc010odn.2_Frame_Shift_Del_p.V76fs|ALPL_uc001beu.4_Frame_Shift_Del_p.V128fs	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	128			V -> M (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAGGGCACCGTGGGGGTAAGC	0.662													-	21889689	G	-	21889689	7	5	235	1	0	1	0	1	0	0	0	0	547	1335	47	0	398	0	ALPL	1	21889689	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1879832	21889689	227360932	25	117618											
ALPL	249	broad.mit.edu	37	chr1	21902358	21902358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctgaccgtggtcactgCggaccattcccacgtcttca	8	16	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:21902358C>T	uc001bet.2	+	10	1387	c.1130C>T	c.(1129-1131)GCG>GTG	p.A377V	ALPL_uc010odn.1_Missense_Mutation_p.A325V|ALPL_uc010odo.1_Missense_Mutation_p.A322V|ALPL_uc010odp.1_Missense_Mutation_p.A300V|ALPL_uc001beu.3_Missense_Mutation_p.A377V	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	377					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GTGGTCACTGCGGACCATTCC	0.607													T	21902358	C	T	21902358	3	4	235	1	0	0	0	0	1	0	0	0	547	768	27	1	1164	1	ALPL	1	21902358	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	12669	21902358	227348263	26	117619											
RAP1GAP	5909	broad.mit.edu	37	chr1	21932596	21932596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcggggttgttgggcGcgaagctcccgctgtggctg	18	11	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:21932596G>A	uc001bex.2	-	18	1649	c.1391C>T	c.(1390-1392)GCG>GTG	p.A464V	RAP1GAP_uc001bev.2_Missense_Mutation_p.A464V|RAP1GAP_uc001bew.2_Missense_Mutation_p.A528V|RAP1GAP_uc001bey.2_Missense_Mutation_p.A464V	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	464					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)|ovary(1)	3		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)		GTTGTTGGGCGCGAAGCTCCC	0.687													A	21932596	G	A	21932596	3	1	235	1	0	0	0	0	1	0	0	0	13037	1087	38	1	710	1	RAP1GAP	1	21932596	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	30238	21932596	227318025	27	117620											
HNRNPR	10236	broad.mit.edu	37	chr1	23650160	23650160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtagatcccaaatgggtccGgccttctcaaaaaggggcac	11	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:23650160G>A	uc001bgr.3	-	6	723	c.564C>T	c.(562-564)GCC>GCT	p.A188A	HNRNPR_uc001bgp.3_Silent_p.A188A|HNRNPR_uc009vqk.2_Silent_p.A87A|HNRNPR_uc001bgs.3_Silent_p.A87A|HNRNPR_uc010odw.1_Silent_p.A150A|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Silent_p.A49A	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	188	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		AAATGGGTCCGGCCTTCTCAA	0.433													A	23650160	G	A	23650160	2	1	235	1	0	0	0	0	0	0	0	1	7272	1103	39	1		1	HNRNPR	1	23650160	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1717564	23650160	225600461	28	117621											
TCEA3	6920	broad.mit.edu	37	chr1	23710913	23710914	+	Splice_Site	DEL	GA	GA	-													agcactgcgtgtctgcacctGagagagagaagaaccactca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:23710912_23710913TGA>T	uc021oig.1	-	10	1102	c.967_splice	c.e10-1	p.V323_splice	TCEA3_uc009vqm.2_Intron	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	323					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)		TGTCTGCACCTGAGAGAGAGAA	0.495													-	23710914	GA	-	23710913	8	5	235	1	0	1	0	1	0	0	1	0	15666	1305	45	0		0	TCEA3	1	23710913	Splice_Site	DEL	GA	TCGA-F1-6177-01A-11D-1800-08	60753	23710913	225539708	29	117622											
MAN1C1	57134	broad.mit.edu	37	chr1	26104704	26104704	+	Frame_Shift_Del	DEL	G	G	-													ggcacctggcctgtttctccGggggcatgatcgcccttggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26104703_26104703CG>C	uc001bkm.2	+	8	1695	c.1365_1365CG>C	c.(1363-1365)tccfs	p.S455fs	MAN1C1_uc009vry.1_Frame_Shift_Del_p.S275fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	455					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.S455S(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTGTTTCTCCGGGGGCATGA	0.607													-	26104704	G	-	26104704	7	5	235	1	0	1	0	1	0	0	0	0	9213	1116	39	0	1400	0	MAN1C1	1	26104704	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	2393791	26104704	223145917	30	117623											
PAQR7	164091	broad.mit.edu	37	chr1	26189653	26189653	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtggggtcggaggacacGaagatacgatgcaccacagg	17	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26189653G>A	uc001bkx.2	-	2	1345	c.678C>T	c.(676-678)TTC>TTT	p.F226F		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	226	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		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)		CGGAGGACACGAAGATACGAT	0.577													A	26189653	G	A	26189653	2	1	235	1	0	0	0	0	0	0	0	1	11440	1049	37	1		1	PAQR7	1	26189653	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	84949	26189653	223060968	31	117624											
CNKSR1	10256	broad.mit.edu	37	chr1	26515144	26515144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacatcacctgcagccaCccccacacagcgcagcccac	6	21	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26515144C>T	uc001bln.3	+	19	1725	c.1667C>T	c.(1666-1668)ACC>ATC	p.T556I	CNKSR1_uc001blm.3_Missense_Mutation_p.T549I|CNKSR1_uc009vsd.2_Missense_Mutation_p.T291I|CNKSR1_uc009vse.2_Missense_Mutation_p.T291I|CNKSR1_uc001blo.2_Missense_Mutation_p.T291I|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	556					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		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)		CCTGCAGCCACCCCCACACAG	0.647													T	26515144	C	T	26515144	3	4	235	1	0	0	0	0	1	0	0	0	3606	507	18	4	1720	4	CNKSR1	1	26515144	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	325491	26515144	222735477	32	117625											
CATSPER4	378807	broad.mit.edu	37	chr1	26526468	26526468	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcattggcatcaacctgttCgtcatcgtggtgaccaccaa	8	12	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26526468C>T	uc010oez.1	+	7	906	c.906C>T	c.(904-906)TTC>TTT	p.F302F	CATSPER4_uc010oey.1_Silent_p.F124F|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	302	Helical; Name=Segment S6; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACCTGTTCGTCATCGTGG	0.517													T	26526468	C	T	26526468	2	4	235	1	0	0	0	0	0	0	0	1	2690	883	31	1		1	CATSPER4	1	26526468	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	11324	26526468	222724153	33	117626											
AIM1L	55057	broad.mit.edu	37	chr1	26664036	26664036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagttctcaccagcctcCgagaactctcagggacccca	8	17	2	2	rs141056748	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:26664036C>T	uc001bmd.3	-	8	932	c.502G>A	c.(502-504)GGA>AGA	p.G168R	AIM1L_uc001bmf.3_Missense_Mutation_p.G59R	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	168	Beta/gamma crystallin 'Greek key' 3.						sugar binding			pancreas(1)	1		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)		CACCAGCCTCCGAGAACTCTC	0.617													T	26664036	C	T	26664036	3	4	235	1	0	0	0	0	1	0	0	0	431	661	23	1	1396	1	AIM1L	1	26664036	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	137568	26664036	222586585	34	117627											
ARID1A	8289	broad.mit.edu	37	chr1	27059207	27059207	+	Frame_Shift_Del	DEL	C	C	-													tgggtctcaggcatcctcagCcccctcaatgacctccagta							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27059207delC	uc001bmv.1	+	4	2217	c.1844delC	c.(1843-1845)GCCfs	p.A615fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A615fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A615fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A232fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	615					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		GCATCCTCAGCCCCCTCAATG	0.478			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27059207	C	-	27059207	7	5	235	1	0	1	0	1	0	0	0	0	913	739	26	0	1858	0	ARID1A	1	27059207	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	395171	27059207	222191414	35	117628											
ARID1A	8289	broad.mit.edu	37	chr1	27097622	27097622	+	Frame_Shift_Del	DEL	A	A	-													ttatacaggtcaacaagaacAaaaaatggcgggaacttgca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27097622delA	uc001bmv.1	+	12	3584	c.3211delA	c.(3211-3213)AAAfs	p.K1071fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.K1071fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.K1071fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.K688fs|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1071	ARID.				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.K1072fs*21(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CAACAAGAACAAAAAATGGCG	0.483			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27097622	A	-	27097622	7	5	235	1	0	1	0	1	0	0	0	0	913	131	5	0	3257	0	ARID1A	1	27097622	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	38415	27097622	222152999	36	117629											
ARID1A	8289	broad.mit.edu	37	chr1	27100182	27100183	+	In_Frame_Ins	INS	-	-	GCA													ctcctagccgctaccccccgINScagcagcagcagcagcagca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27100181_27100182C>CGCA	uc001bmv.1	+	15	4350_4351	c.3977_3978C>CGCA	c.(3976-3978)ccg>cCGCA	p.P1326P	ARID1A_uc001bmt.1_In_Frame_Ins_p.P1325P|ARID1A_uc001bmu.1_In_Frame_Ins_p.P1326P|ARID1A_uc001bmw.1_In_Frame_Ins_p.P943P|ARID1A_uc001bmx.1_In_Frame_Ins_p.P172P|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1326					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.P1326fs*155(2)|p.Q1334delQ(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)		CGCTACCCCCCgcagcagcagc	0.589			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								GCA	27100183	-	GCA	27100182	7	5	235	1	0	1	1	0	0	0	0	0	913	1074	38	0	4040	0	ARID1A	1	27100182	In_Frame_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2560	27100182	222150439	37	117630											
PIGV	55650	broad.mit.edu	37	chr1	27121381	27121381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtagacaagggctacCggattgcagagggaaatgaa	14	6	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27121381C>T	uc001bmz.2	+	3	1187	c.856C>T	c.(856-858)CGG>TGG	p.R286W	PIGV_uc001bmy.2_Missense_Mutation_p.R51W|PIGV_uc009vso.2_Missense_Mutation_p.R286W|PIGV_uc010ofg.1_Missense_Mutation_p.R51W|PIGV_uc001bna.2_Missense_Mutation_p.R286W	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	286	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		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)		CAAGGGCTACCGGATTGCAGA	0.483													T	27121381	C	T	27121381	3	4	235	1	0	0	0	0	1	0	0	0	11901	643	23	1	862	1	PIGV	1	27121381	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	21199	27121381	222129240	38	117631											
FAM46B	115572	broad.mit.edu	37	chr1	27332907	27332907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatctcctcgggactgCgcgtggcgatgacacggtgc	15	13	1	1	rs142452050	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:27332907C>T	uc010ofj.1	-	2	978	c.806G>A	c.(805-807)CGC>CAC	p.R269H		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	269										central_nervous_system(1)	1		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)		CTCGGGACTGCGCGTGGCGAT	0.687													T	27332907	C	T	27332907	3	4	235	1	0	0	0	0	1	0	0	0	5566	768	27	1	475	1	FAM46B	1	27332907	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	211526	27332907	221917714	39	117632											
SMPDL3B	27293	broad.mit.edu	37	chr1	28280888	28280888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctactgtgagaagctgCcgggtcccagcggggctggg	16	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:28280888C>T	uc001bpg.2	+	5	732	c.541C>T	c.(541-543)CCG>TCG	p.P181S	SMPDL3B_uc001bpf.2_Missense_Mutation_p.P181S|SMPDL3B_uc010ofq.1_5'UTR|SMPDL3B_uc010ofr.1_Missense_Mutation_p.P133S	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	181					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		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)		TGAGAAGCTGCCGGGTCCCAG	0.597													T	28280888	C	T	28280888	3	4	235	1	0	0	0	0	1	0	0	0	14809	739	26	2	559	2	SMPDL3B	1	28280888	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	947981	28280888	220969733	40	117633											
MED18	54797	broad.mit.edu	37	chr1	28661359	28661359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtcactctcctatctcGtggaattaagtgtggtagca	9	10	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:28661359G>A	uc001bpt.3	+	3	750	c.505G>A	c.(505-507)GTG>ATG	p.V169M	MED18_uc009vtg.2_Missense_Mutation_p.V169M	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	169					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding				0		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)		CTCCTATCTCGTGGAATTAAG	0.488													A	28661359	G	A	28661359	3	1	235	1	0	0	0	0	1	0	0	0	9436	1145	40	1	511	1	MED18	1	28661359	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	380471	28661359	220589262	41	117634											
RCC1	1104	broad.mit.edu	37	chr1	28858344	28858344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccacagcacagaacccGgcttggtgctgacactaggc	12	14	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:28858344G>A	uc001bqg.1	+	3	188	c.103G>A	c.(103-105)GGC>AGC	p.G35S	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.G35S|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.G35S|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.G35S|RCC1_uc001bqe.1_Missense_Mutation_p.G52S|RCC1_uc001bqf.1_Missense_Mutation_p.G66S	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	35	RCC1 1.				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			ovary(1)	1		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)		CACAGAACCCGGCTTGGTGCT	0.527													A	28858344	G	A	28858344	3	1	235	1	0	0	0	0	1	0	0	0	13173	1116	39	1	206	1	RCC1	1	28858344	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	196985	28858344	220392277	42	117635											
YTHDF2	51441	broad.mit.edu	37	chr1	29069012	29069012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaagctgcttggtctaCggggggtgacacagccatgc	17	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:29069012C>T	uc001brc.2	+	4	727	c.230C>T	c.(229-231)ACG>ATG	p.T77M	YTHDF2_uc001brd.2_Missense_Mutation_p.T74M|YTHDF2_uc010ofx.1_Missense_Mutation_p.T27M|YTHDF2_uc001bre.2_Missense_Mutation_p.T27M	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	77					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-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)		GCTTGGTCTACGGGGGGTGAC	0.502													T	29069012	C	T	29069012	3	4	235	1	0	0	0	0	1	0	0	0	17496	536	19	1	244	1	YTHDF2	1	29069012	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	210668	29069012	220181609	43	117636											
KPNA6	23633	broad.mit.edu	37	chr1	32635587	32635587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactggagaacatcctgcGgcttggagagcaagagggca	16	8	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:32635587G>A	uc001bug.2	+	13	1437	c.1349G>A	c.(1348-1350)CGG>CAG	p.R450Q	KPNA6_uc001buh.2_Missense_Mutation_p.R225Q|KPNA6_uc010ogx.1_Missense_Mutation_p.R447Q|KPNA6_uc010ogy.1_Missense_Mutation_p.R455Q|KPNA6_uc009vtz.2_Missense_Mutation_p.R345Q	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	450	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACATCCTGCGGCTTGGAGAG	0.527													A	32635587	G	A	32635587	3	1	235	1	0	0	0	0	1	0	0	0	8434	1116	39	1	1399	1	KPNA6	1	32635587	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3566575	32635587	216615034	44	117637											
HDAC1	3065	broad.mit.edu	37	chr1	32793260	32793260	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtatggagagtacttcccAggaactggggacctacgggt	14	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:32793260A>G	uc001bvb.1	+	6	681	c.618A>G	c.(616-618)CCA>CCG	p.P206P	HDAC1_uc010ohd.1_Silent_p.P206P|HDAC1_uc010ohe.1_Silent_p.P143P|HDAC1_uc010ohf.1_Silent_p.P177P|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	206	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AGTACTTCCCAGGAACTGGGG	0.517													G	32793260	A	G	32793260	2	3	235	1	0	0	0	0	0	0	0	1	7004	175	7	3		3	HDAC1	1	32793260	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	157673	32793260	216457361	45	117638											
TSSK3	81629	broad.mit.edu	37	chr1	32829430	32829430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatccgctactgccatgGctgtggtgtggcccaccggg	15	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:32829430G>A	uc001bvf.2	+	2	821	c.380G>A	c.(379-381)GGC>GAC	p.G127D	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	127	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TACTGCCATGGCTGTGGTGTG	0.592													A	32829430	G	A	32829430	3	1	235	1	0	0	0	0	1	0	0	0	16667	1203	42	2	386	2	TSSK3	1	32829430	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	36170	32829430	216421191	46	117639											
TRIM62	55223	broad.mit.edu	37	chr1	33612828	33612828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacgttcttgccattggCgtggctctggccagggctga	14	11	2	2	rs61758110		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:33612828C>T	uc001bxb.2	-	5	2016	c.1378G>A	c.(1378-1380)GCC>ACC	p.A460T		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	460	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TTGCCATTGGCGTGGCTCTGG	0.567													T	33612828	C	T	33612828	3	4	235	1	0	0	0	0	1	0	0	0	16534	768	27	1	53	1	TRIM62	1	33612828	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	783398	33612828	215637793	47	117640											
ZSCAN20	7579	broad.mit.edu	37	chr1	33945006	33945006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatccaaactctgggagaaGgaccgtggctctgtctctgg	13	10	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:33945006G>T	uc001bxj.3	+	2	284	c.117G>T	c.(115-117)AAG>AAT	p.K39N	ZSCAN20_uc001bxk.2_Missense_Mutation_p.K39N|ZSCAN20_uc009vui.2_Missense_Mutation_p.K39N	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	39					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTGGGAGAAGGACCGTGGCT	0.577													T	33945006	G	T	33945006	3	4	235	1	0	0	0	0	1	0	0	0	18229	991	35	5	119	5	ZSCAN20	1	33945006	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	332178	33945006	215305615	48	117641											
CSMD2	114784	broad.mit.edu	37	chr1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtagcctttttgacaaCggaagaggactgtgcttcca	12	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:33999485C>T	uc001bxn.1	-	62	9499	c.9470G>A	c.(9469-9471)CGT>CAT	p.R3157H	CSMD2_uc001bxm.1_Missense_Mutation_p.R3301H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3157	Sushi 25.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTTTGACAACGGAAGAGGAC	0.562													T	33999485	C	T	33999485	3	4	235	1	0	0	0	0	1	0	0	0	3945	536	19	1	1025	1	CSMD2	1	33999485	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	54479	33999485	215251136	49	117642											
MRPS15	64960	broad.mit.edu	37	chr1	36929762	36929762	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttcgaggctgcaggcCccactggttgaaaggaaact	11	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:36929762C>A	uc001cas.2	-	1	279	c.115G>T	c.(115-117)GGC>TGC	p.G39C		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	39				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTGCAGGCCCCACTGGTTG	0.612													A	36929762	C	A	36929762	3	1	235	1	0	0	0	0	1	0	0	0	9825	623	22	5	690	5	MRPS15	1	36929762	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2930277	36929762	212320859	50	117643											
GRIK3	2899	broad.mit.edu	37	chr1	37307454	37307454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggatgtgggccagctcCtttagcaggtcgatgcagta	13	10	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:37307454C>A	uc001caz.2	-	10	1548	c.1413G>T	c.(1411-1413)AAG>AAT	p.K471N	GRIK3_uc001cba.1_Missense_Mutation_p.K471N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	471	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGGCCAGCTCCTTTAGCAGGT	0.567													A	37307454	C	A	37307454	3	1	235	1	0	0	0	0	1	0	0	0	6775	680	24	5	1374	5	GRIK3	1	37307454	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	377692	37307454	211943167	51	117644											
GRIK3	2899	broad.mit.edu	37	chr1	37337814	37337814	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatctgggccgccataGtgtggctgcagtcgaagata	15	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:37337814G>C	uc001caz.2	-	4	842	c.707C>G	c.(706-708)ACT>AGT	p.T236S	GRIK3_uc001cba.1_Missense_Mutation_p.T236S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	236	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCGCCATAGTGTGGCTGCA	0.602													C	37337814	G	C	37337814	3	2	235	1	0	0	0	0	1	0	0	0	6775	1029	36	5	2104	5	GRIK3	1	37337814	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	30360	37337814	211912807	52	117645											
C1orf109	54955	broad.mit.edu	37	chr1	38152051	38152051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaatgccaactgtgtctgCgtgttgctcatagatctgaa	9	9	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:38152051C>T	uc001cbp.2	-	3	539	c.349G>A	c.(349-351)GCA>ACA	p.A117T	C1orf109_uc001cbn.2_5'Flank|C1orf109_uc010oig.1_Missense_Mutation_p.A180T|C1orf109_uc001cbo.2_Missense_Mutation_p.A179T|C1orf109_uc001cbq.1_Silent_p.T99T	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	hypothetical protein LOC54955	117											0		Myeloproliferative disorder(586;0.0393)				ACTGTGTCTGCGTGTTGCTCA	0.512													T	38152051	C	T	38152051	3	4	235	1	0	0	0	0	1	0	0	0	1982	768	27	1	274	1	C1orf109	1	38152051	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	814237	38152051	211098570	53	117646											
MACF1	23499	broad.mit.edu	37	chr1	39798936	39798936	+	Frame_Shift_Del	DEL	A	A	-													ggaatgttcatcctctggacAaaaaggaaatgttaaagaaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:39798935_39798935CA>C	uc021olw.1	+	0	1995	c.1995_1995CA>C	c.(1993-1995)gacfs	p.D665fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2230					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			ATCCTCTGGACAAAAAGGAAA	0.358													-	39798936	A	-	39798936	7	5	235	1	0	1	0	1	0	0	0	0	9144	131	5	0	6767	0	MACF1	1	39798936	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1646885	39798936	209451685	54	117647											
MACF1	23499	broad.mit.edu	37	chr1	39812823	39812823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattttggaacagactgccGctcaggtggatgccttgcag	12	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:39812823G>A	uc010oiu.1	+	5	6207	c.6076G>A	c.(6076-6078)GCT>ACT	p.A2026T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3591					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			ACAGACTGCCGCTCAGGTGGA	0.542													A	39812823	G	A	39812823	3	1	235	1	0	0	0	0	1	0	0	0	9144	1087	38	1	10863	1	MACF1	1	39812823	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	13887	39812823	209437798	55	117648											
MFSD2A	84879	broad.mit.edu	37	chr1	40434360	40434361	+	Frame_Shift_Del	DEL	TG	TG	-													gggcctgctgctcttcaaaaTgtaccccattgatgaggaga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:40434360_40434361delTG	uc001cev.2	+	13	1692_1693	c.1511_1512delTG	c.(1510-1512)ATGfs	p.M504fs	MFSD2A_uc010ojb.1_Frame_Shift_Del_p.M452fs|MFSD2A_uc001ceu.2_Frame_Shift_Del_p.M491fs|MFSD2A_uc010ojc.1_Frame_Shift_Del_p.M335fs|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_Frame_Shift_Del_p.M155fs	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	504					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CTCTTCAAAATGTACCCCATTG	0.584													-	40434361	TG	-	40434360	7	5	235	1	0	1	0	1	0	0	0	0	9530	1464	51	0	1561	0	MFSD2A	1	40434360	Frame_Shift_Del	DEL	TG	TCGA-F1-6177-01A-11D-1800-08	621537	40434360	208816261	56	117649											
LEPRE1	64175	broad.mit.edu	37	chr1	43215907	43215907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaggaaaagtagaggggcGtatccaggcggaagtaggac	17	5	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:43215907G>A	uc001chv.2	-	11	1783	c.1670C>T	c.(1669-1671)ACG>ATG	p.T557M	LEPRE1_uc001chw.2_Missense_Mutation_p.T557M|LEPRE1_uc001chx.3_Missense_Mutation_p.T557M	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	557					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			ovary(3)|lung(1)	4	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)	GTAGAGGGGCGTATCCAGGCG	0.557													A	43215907	G	A	43215907	3	1	235	1	0	0	0	0	1	0	0	0	8729	1145	40	1	579	1	LEPRE1	1	43215907	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2781547	43215907	206034714	57	117650											
CDC20	991	broad.mit.edu	37	chr1	43828634	43828634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccaggtcacacatcccGggtcctgagtctgaccatga	10	14	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:43828634G>A	uc001cix.2	+	11	1435	c.1334G>A	c.(1333-1335)CGG>CAG	p.R445Q	CDC20_uc001ciy.2_Missense_Mutation_p.R445Q	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	445	WD 7.				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				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACACATCCCGGGTCCTGAGT	0.547													A	43828634	G	A	43828634	3	1	235	1	0	0	0	0	1	0	0	0	3059	1116	39	1	1372	1	CDC20	1	43828634	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	612727	43828634	205421987	58	117651											
KIAA0467	23334	broad.mit.edu	37	chr1	43895417	43895417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgagtttcagagcaccCgtgtccctggcattccagac	10	14	1	3	rs150269825	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:43895417C>T	uc001cjk.1	+	14	1975	c.1513C>T	c.(1513-1515)CGT>TGT	p.R505C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1404						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCAGAGCACCCGTGTCCCTGG	0.542													T	43895417	C	T	43895417	3	4	235	1	0	0	0	0	1	0	0	0	8178	652	23	1	1559	1	KIAA0467	1	43895417	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	66783	43895417	205355204	59	117652											
PTPRF	5792	broad.mit.edu	37	chr1	44071951	44071951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggagaggagcagcggcGgcggcggcggcaggcagaac	22	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44071951G>A	uc001cjr.2	+	20	3864	c.3524G>A	c.(3523-3525)CGG>CAG	p.R1175Q	PTPRF_uc001cjs.2_Missense_Mutation_p.R1166Q|PTPRF_uc001cju.2_Missense_Mutation_p.R553Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R735Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R635Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R401Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1175	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCAGCGGCGGCGGCGGCGG	0.637													A	44071951	G	A	44071951	3	1	235	1	0	0	0	0	1	0	0	0	12801	1116	39	1	3594	1	PTPRF	1	44071951	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	176534	44071951	205178670	60	117653											
ST3GAL3	6487	broad.mit.edu	37	chr1	44303915	44303915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaattagccaccaagtaCgcaaacttttcagagggagc	10	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44303915C>T	uc001ckc.2	+	5	411	c.234C>T	c.(232-234)TAC>TAT	p.Y78Y	ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.Y93Y|ST3GAL3_uc001cka.2_Silent_p.Y62Y|ST3GAL3_uc001ckb.2_Silent_p.Y147Y|ST3GAL3_uc001ckd.2_Silent_p.Y132Y|ST3GAL3_uc001cke.2_Silent_p.Y62Y|ST3GAL3_uc001ckf.2_Silent_p.Y116Y|ST3GAL3_uc001ckg.2_Silent_p.Y78Y|ST3GAL3_uc001ckh.2_Silent_p.Y93Y|ST3GAL3_uc001cki.2_Silent_p.Y78Y|ST3GAL3_uc009vwv.2_Silent_p.Y78Y|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Translation_Start_Site|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.Y77Y|ST3GAL3_uc001ckl.2_Silent_p.Y78Y|ST3GAL3_uc009vwz.2_Translation_Start_Site|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.Y77Y|ST3GAL3_uc001cko.2_Silent_p.Y62Y|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.Y62Y|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.Y62Y	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	78	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCACCAAGTACGCAAACTTTT	0.507													T	44303915	C	T	44303915	2	4	235	1	0	0	0	0	0	0	0	1	15215	547	19	1		1	ST3GAL3	1	44303915	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	231964	44303915	204946706	61	117654											
IPO13	9670	broad.mit.edu	37	chr1	44415209	44415209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggcagctactgcagcccGacaaggtaccagagatccag	12	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44415209G>A	uc001ckx.2	+	2	1000	c.205G>A	c.(205-207)GAC>AAC	p.D69N		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	69	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGCAGCCCGACAAGGTACC	0.537													A	44415209	G	A	44415209	3	1	235	1	0	0	0	0	1	0	0	0	7794	1058	37	1	211	1	IPO13	1	44415209	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	111294	44415209	204835412	62	117655											
DMAP1	55929	broad.mit.edu	37	chr1	44685868	44685868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggggccctgccacaccaGcatcaggcccaggcccggcc	13	18	1	0	rs140268980		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:44685868G>A	uc001clq.1	+	10	1311	c.1231G>A	c.(1231-1233)GCA>ACA	p.A411T	DMAP1_uc001clr.1_Missense_Mutation_p.A411T|DMAP1_uc001cls.1_Missense_Mutation_p.A411T|DMAP1_uc010oku.1_Missense_Mutation_p.A401T	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	411					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				0	Acute lymphoblastic leukemia(166;0.155)					TGCCACACCAGCATCAGGCCC	0.657											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44685868	G	A	44685868	3	1	235	1	0	0	0	0	1	0	0	0	4576	971	34	2	1265	2	DMAP1	1	44685868	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	270659	44685868	204564753	63	117656											
TESK2	10420	broad.mit.edu	37	chr1	45812673	45812673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggggaagatagtccGgatcggcctggatgcgggcg	19	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:45812673G>A	uc001cns.1	-	8	1173	c.770C>T	c.(769-771)CCG>CTG	p.P257L	TESK2_uc009vxr.1_Missense_Mutation_p.P257L|TESK2_uc010olo.1_Missense_Mutation_p.P174L|TESK2_uc009vxs.1_Missense_Mutation_p.P49L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	257	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					AAGATAGTCCGGATCGGCCTG	0.537													A	45812673	G	A	45812673	3	1	235	1	0	0	0	0	1	0	0	0	15765	1116	39	1	961	1	TESK2	1	45812673	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1126805	45812673	203437948	64	117657											
NRD1	4898	broad.mit.edu	37	chr1	52272560	52272560	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattctgtttccgggcaatcGaaagccttcaacgtaaagtc	8	10	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:52272560G>A	uc001ctc.3	-	20	2542	c.2220C>T	c.(2218-2220)TTC>TTT	p.F740F	NRD1_uc009vzb.2_Silent_p.F435F|NRD1_uc001ctd.3_Silent_p.F672F|NRD1_uc001cte.2_Silent_p.F608F|NRD1_uc001ctf.2_Silent_p.F672F|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	671					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				0						CCGGGCAATCGAAAGCCTTCA	0.378													A	52272560	G	A	52272560	2	1	235	1	0	0	0	0	0	0	0	1	10645	1049	37	1		1	NRD1	1	52272560	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6459887	52272560	196978061	65	117658											
NRD1	4898	broad.mit.edu	37	chr1	52285521	52285521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatggatccgttaaatgGccaaagtttggtctgggtaa	11	6	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:52285521G>A	uc001ctc.3	-	11	1768	c.1446C>T	c.(1444-1446)GGC>GGT	p.G482G	NRD1_uc009vzb.2_Silent_p.G177G|NRD1_uc001ctd.3_Silent_p.G414G|NRD1_uc001cte.2_Silent_p.G350G|NRD1_uc001ctf.2_Silent_p.G414G|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.G282G	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	413					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				0						CCGTTAAATGGCCAAAGTTTG	0.328													A	52285521	G	A	52285521	2	1	235	1	0	0	0	0	0	0	0	1	10645	1190	42	2		2	NRD1	1	52285521	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	12961	52285521	196965100	66	117659											
RAB3B	5865	broad.mit.edu	37	chr1	52403065	52403065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgtgatggtccggtacCgctcctgcccagctgtgtcc	12	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:52403065C>T	uc001cth.2	-	3	373	c.248G>A	c.(247-249)CGG>CAG	p.R83Q		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						GGTCCGGTACCGCTCCTGCCC	0.468													T	52403065	C	T	52403065	3	4	235	1	0	0	0	0	1	0	0	0	12932	652	23	1	423	1	RAB3B	1	52403065	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	117544	52403065	196847556	67	117660											
FAM151A	338094	broad.mit.edu	37	chr1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-													gtgttgtcactgtagatagtGggggggtgtgccatgatggg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:55081756_55081756TG>T	uc001cxn.3	-	2	484	c.352_352CA>A	c.(352-354)actfs	p.T118fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGT	0.592													-	55081757	G	-	55081757	7	5	235	1	0	1	0	1	0	0	0	0	5458	1335	47	0	1430	0	FAM151A	1	55081757	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	2678692	55081757	194168864	68	117661											
C1orf168	199920	broad.mit.edu	37	chr1	57219586	57219586	+	Frame_Shift_Del	DEL	T	T	-													acatggttgtttttccttcaTttttttatcttcatgtttag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:57219585_57219585AT>A	uc001cym.4	-	7	1560	c.1154_1154AT>T	c.(1153-1155)atgfs	p.M385fs	C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	385										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						TTTTTCCTTCATTTTTTTATC	0.338													-	57219586	T	-	57219586	7	5	235	1	0	1	0	1	0	0	0	0	2012	1493	52	0	1085	0	C1orf168	1	57219586	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	2137829	57219586	192031035	69	117662											
TACSTD2	4070	broad.mit.edu	37	chr1	59042093	59042093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggggttctccgcgcaCgcgcaagtccaggccgccgc	14	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:59042093C>T	uc001cyz.3	-	1	1074	c.736G>A	c.(736-738)GTG>ATG	p.V246M		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	246	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					TCTCCGCGCACGCGCAAGTCC	0.577													T	59042093	C	T	59042093	3	4	235	1	0	0	0	0	1	0	0	0	15505	536	19	1	239	1	TACSTD2	1	59042093	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1822507	59042093	190208528	70	117663											
CACHD1	57685	broad.mit.edu	37	chr1	65145313	65145313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattaaacatgattaaaagcGcccctgtgggtcctgtggct	10	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:65145313G>A	uc001dbo.1	+	24	3232	c.3127G>A	c.(3127-3129)GCC>ACC	p.A1043T	CACHD1_uc001dbp.1_Missense_Mutation_p.A798T|CACHD1_uc001dbq.1_Missense_Mutation_p.A798T|CACHD1_uc010opa.1_Missense_Mutation_p.A287T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1094	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						GATTAAAAGCGCCCCTGTGGG	0.493													A	65145313	G	A	65145313	3	1	235	1	0	0	0	0	1	0	0	0	2537	1087	38	1	3221	1	CACHD1	1	65145313	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6103220	65145313	184105308	71	117664											
WLS	79971	broad.mit.edu	37	chr1	68564384	68564384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacaattcttgataaagTtccgaaacaaacaaagcaca	5	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:68564384T>G	uc001dee.2	-	12	1834	c.1563A>C	c.(1561-1563)GAA>GAC	p.E521D	uc001deb.1_RNA|uc001dec.1_RNA	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 2	Error:Variant_position_missing_in_Q5T9L3_after_alignment					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				0						cttgataaagttccgaaacaa	0													G	68564384	T	G	68564384	3	3	235	1	0	0	0	0	1	0	0	0	17373	1722	60	5	72	5	WLS	1	68564384	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3419071	68564384	180686237	72	117665											
PTGER3	5733	broad.mit.edu	37	chr1	71513233	71513233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgggtgcagaagggggcatCccctccgtagccccgggtct	16	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:71513233C>T	uc001dfg.1	-	1	259	c.28G>A	c.(28-30)GAT>AAT	p.D10N	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.D10N|PTGER3_uc001dfl.1_Missense_Mutation_p.D10N|PTGER3_uc009wbm.1_Missense_Mutation_p.D10N|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.D10N|PTGER3_uc009wbn.1_Missense_Mutation_p.D10N|PTGER3_uc009wbo.2_Missense_Mutation_p.D10N|PTGER3_uc001dfo.2_Missense_Mutation_p.D10N|PTGER3_uc001dfp.1_Missense_Mutation_p.D10N|PTGER3_uc001dfq.2_Missense_Mutation_p.D10N|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	10	Extracellular (Potential).				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			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	AAGGGGGCATCCCCTCCGTAG	0.721													T	71513233	C	T	71513233	3	4	235	1	0	0	0	0	1	0	0	0	12744	855	30	4	1463	4	PTGER3	1	71513233	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2948849	71513233	177737388	73	117666											
TNNI3K	51086	broad.mit.edu	37	chr1	74954873	74954873	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcttttttctatttacagGgaagacccgaattttctgaa	7	7	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:74954873G>C	uc001dgf.1	+	22	2173	c.2122G>C	c.(2122-2124)GGA>CGA	p.G708R	TNNI3K_uc001dge.1_Missense_Mutation_p.G809R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	708	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						CTATTTACAGGGAAGACCCGA	0.338													C	74954873	G	C	74954873	3	2	235	1	0	0	0	0	1	0	0	0	16326	1246	43	5	2563	5	TNNI3K	1	74954873	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3441640	74954873	174295748	74	117667											
HFM1	164045	broad.mit.edu	37	chr1	91843980	91843980	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatcaatgagaaacagtcGaaccagctgaaccaaagagt	8	10	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:91843980G>A	uc001doa.3	-	10	1316	c.1216C>T	c.(1216-1218)CGA>TGA	p.R406*	HFM1_uc010osu.1_Nonsense_Mutation_p.R85*|HFM1_uc010osv.1_Nonsense_Mutation_p.R90*|HFM1_uc001doc.1_Nonsense_Mutation_p.R406*	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	406	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		AGAAACAGTCGAACCAGCTGA	0.348													A	91843980	G	A	91843980	4	1	235	1	0	0	0	0	0	1	0	0	7083	1066	37	1	3211	1	HFM1	1	91843980	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	16889107	91843980	157406641	75	117668											
CDC7	8317	broad.mit.edu	37	chr1	91989926	91989926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaacttctagatctaaaTccagcttcaagaataacagc	5	9	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:91989926T>C	uc001doe.2	+	12	1824	c.1659T>C	c.(1657-1659)AAT>AAC	p.N553N	CDC7_uc001dof.2_Silent_p.N553N|CDC7_uc010osw.1_Silent_p.N525N|CDC7_uc009wdc.2_Silent_p.N553N|CDC7_uc009wdd.2_Silent_p.N196N	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	553	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			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		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)		TAGATCTAAATCCAGCTTCAA	0.299													C	91989926	T	C	91989926	2	2	235	1	0	0	0	0	0	0	0	1	3084	1432	50	3		3	CDC7	1	91989926	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	145946	91989926	157260695	76	117669											
ARHGAP29	9411	broad.mit.edu	37	chr1	94668131	94668131	+	Frame_Shift_Del	DEL	T	T	-													cctcctcttccaaccttcgcTttttttctagttgcttgttg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:94668130_94668130CT>C	uc001dqj.4	-	10	1482	c.1113_1113AG>G	c.(1111-1113)aagfs	p.K371fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Frame_Shift_Del_p.K371fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	371					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			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)		CCAACCTTCGCTTTTTTTCTA	0.393													-	94668131	T	-	94668131	7	5	235	1	0	1	0	1	0	0	0	0	878	1609	56	0	2725	0	ARHGAP29	1	94668131	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	2678205	94668131	154582490	77	117670											
TMEM56	148534	broad.mit.edu	37	chr1	95657235	95657235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatggcttcatgtattcCgtgtatggaacagaacccta	8	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:95657235C>T	uc001drb.2	+	7	894	c.603C>T	c.(601-603)TCC>TCT	p.S201S	RWDD3_uc001drd.3_Intron|uc001dre.1_Intron|TMEM56_uc001drc.2_Silent_p.S201S	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	201	TLC.					integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TCATGTATTCCGTGTATGGAA	0.393													T	95657235	C	T	95657235	2	4	235	1	0	0	0	0	0	0	0	1	16180	639	23	1		1	TMEM56	1	95657235	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	989104	95657235	153593386	78	117671											
LPPR5	163404	broad.mit.edu	37	chr1	99470207	99470207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcatgctgctggtgagCgccgcgggcagcaggggcat	18	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:99470207C>T	uc001dsb.2	-	1	243	c.21G>A	c.(19-21)GCG>GCA	p.A7A	uc001dsd.1_Intron|LPPR5_uc001dsc.2_Silent_p.A7A	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	7						integral to membrane	hydrolase activity				0						TGCTGGTGAGCGCCGCGGGCA	0.577													T	99470207	C	T	99470207	2	4	235	1	0	0	0	0	0	0	0	1	8928	755	27	1		1	LPPR5	1	99470207	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3812972	99470207	149780414	79	117672											
AGL	178	broad.mit.edu	37	chr1	100380997	100380997	+	Frame_Shift_Del	DEL	A	A	-													gaaagctttggagattgcagAaaaaaaattgcttggtcccc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:100380996_100380996GA>G	uc001dsi.1	+	30	4613	c.4213_4213GA>G	c.(4213-4215)gaafs	p.E1405fs	AGL_uc001dsj.1_Frame_Shift_Del_p.E1405fs|AGL_uc001dsk.1_Frame_Shift_Del_p.E1405fs|AGL_uc001dsl.1_Frame_Shift_Del_p.E1405fs|AGL_uc001dsm.1_Frame_Shift_Del_p.E1389fs|AGL_uc001dsn.1_Frame_Shift_Del_p.E1388fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1405					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)		GGAGATTGCAGAAAAAAAATT	0.328													-	100380997	A	-	100380997	7	5	235	1	0	1	0	1	0	0	0	0	384	246	9	0	4401	0	AGL	1	100380997	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	910790	100380997	148869624	80	117673											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	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)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	235	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	508840	100889837	148360784	81	117674											
WDR47	22911	broad.mit.edu	37	chr1	109553687	109553687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgaaattctcttatcAtgactggttagtccacaggt	9	8	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:109553687A>G	uc001dwj.2	-	5	1357	c.981T>C	c.(979-981)CAT>CAC	p.H327H	WDR47_uc001dwl.2_Silent_p.H334H|WDR47_uc001dwi.2_Silent_p.H327H|WDR47_uc001dwk.2_Silent_p.H299H|WDR47_uc010ovf.1_Silent_p.H254H	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	327										ovary(1)	1		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)		TTCTCTTATCATGACTGGTTA	0.443													G	109553687	A	G	109553687	2	3	235	1	0	0	0	0	0	0	0	1	17297	214	8	3		3	WDR47	1	109553687	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	8663850	109553687	139696934	82	117675											
GPR61	83873	broad.mit.edu	37	chr1	110086476	110086476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccagaccaccccacacCggacgtttgggggagggaaa	12	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:110086476C>T	uc001dxy.2	+	2	1515	c.832C>T	c.(832-834)CGG>TGG	p.R278W		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	278	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		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)		CACCCCACACCGGACGTTTGG	0.632													T	110086476	C	T	110086476	3	4	235	1	0	0	0	0	1	0	0	0	6702	643	23	1	834	1	GPR61	1	110086476	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	532789	110086476	139164145	83	117676											
KCNC4	3749	broad.mit.edu	37	chr1	110768707	110768707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcgccgggccctgcgaCgctccaccactcgagacaga	13	16	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:110768707C>T	uc001dzh.2	+	3	1783	c.1726C>T	c.(1726-1728)CGC>TGC	p.R576C	KCNC4_uc009wfr.2_Missense_Mutation_p.R576C|KCNC4_uc001dzg.2_Missense_Mutation_p.R576C|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	576	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCCTGCGACGCTCCACCAC	0.647													T	110768707	C	T	110768707	3	4	235	1	0	0	0	0	1	0	0	0	8017	536	19	1	1870	1	KCNC4	1	110768707	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	682231	110768707	138481914	84	117677											
SLC16A4	9122	broad.mit.edu	37	chr1	110924293	110924293	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgggtagaagtcccatagtCacacaaagaaaaggaatact	9	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:110924293C>T	uc001dzo.1	-	4	527	c.345G>A	c.(343-345)GTG>GTA	p.V115V	SLC16A4_uc009wfs.1_Intron|SLC16A4_uc001dzp.1_Silent_p.V115V|SLC16A4_uc010ovy.1_Silent_p.V53V|SLC16A4_uc001dzq.1_Silent_p.V53V|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	115	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		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)	GTCCCATAGTCACACAAAGAA	0.328													T	110924293	C	T	110924293	2	4	235	1	0	0	0	0	0	0	0	1	14410	813	29	4		4	SLC16A4	1	110924293	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	155586	110924293	138326328	85	117678											
PHTF1	10745	broad.mit.edu	37	chr1	114253067	114253067	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgacatgttgaggcttcGagagccaccactcacacccg	9	14	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:114253067G>A	uc009wgp.1	-	10	1530	c.1078C>T	c.(1078-1080)CGA>TGA	p.R360*	PHTF1_uc001edn.2_Nonsense_Mutation_p.R360*|PHTF1_uc001edm.2_Nonsense_Mutation_p.R117*|PHTF1_uc001edo.1_Nonsense_Mutation_p.R117*	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)		TTGAGGCTTCGAGAGCCACCA	0.428													A	114253067	G	A	114253067	4	1	235	1	0	0	0	0	0	1	0	0	11862	1066	37	1	1246	1	PHTF1	1	114253067	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3328774	114253067	134997554	86	117679											
PHTF1	10745	broad.mit.edu	37	chr1	114254720	114254720	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagacaccccattacccaAacgcctaaaagcctcctaca	3	17	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:114254720A>G	uc009wgp.1	-	8	1251	c.799T>C	c.(799-801)TTG>CTG	p.L267L	PHTF1_uc001edn.2_Silent_p.L267L|PHTF1_uc001edm.2_Silent_p.L24L|PHTF1_uc001edo.1_Silent_p.L24L	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	267						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)		CCATTACCCAAACGCCTAAAA	0.428													G	114254720	A	G	114254720	2	3	235	1	0	0	0	0	0	0	0	1	11862	11	1	3		3	PHTF1	1	114254720	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1653	114254720	134995901	87	117680											
TRIM33	51592	broad.mit.edu	37	chr1	115006998	115006998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcggcatactgggcacCgtattacaccaactacaaca	8	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:115006998C>T	uc001eew.2	-	2	623	c.539G>A	c.(538-540)CGG>CAG	p.R180Q	TRIM33_uc010ows.1_5'Flank|TRIM33_uc001eex.2_Missense_Mutation_p.R180Q	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	180					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			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	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)		TACTGGGCACCGTATTACACC	0.343			T	RET	papillary thyroid								T	115006998	C	T	115006998	3	4	235	1	0	0	0	0	1	0	0	0	16504	652	23	1	2920	1	TRIM33	1	115006998	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	752278	115006998	134243623	88	117681											
DENND2C	163259	broad.mit.edu	37	chr1	115079208	115079208	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggtgacggaggtggAaactggtggttcctcgggca	16	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:115079208A>G	uc001eez.2	-	29		c.4435T>C				NM_198459		Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											skin(3)	3	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)		ACGGAGGTGGAAACTGGTGGT	0.542													G	115079208	A	G	115079208	1	3	235	0	1	0	0	0	0	0	0	0	4430	261	9	3		3	DENND2C	1	115079208	RNA	SNP	A	TCGA-F1-6177-01A-11D-1800-08	72210	115079208	134171413	89	117682											
CASQ2	845	broad.mit.edu	37	chr1	116311065	116311065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcggaaagacttaccactCggtccttcccatcatatgtg	7	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:116311065C>T	uc001efx.3	-	1	362	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	CASQ2_uc010owu.1_Missense_Mutation_p.R33Q	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	33			R -> Q (in CPVT2; reduces calcium- dependent dimerization).		heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTTACCACTCGGTCCTTCCC	0.438													T	116311065	C	T	116311065	3	4	235	1	0	0	0	0	1	0	0	0	2681	884	31	1	1145	1	CASQ2	1	116311065	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1231857	116311065	132939556	90	117683											
TRIM45	80263	broad.mit.edu	37	chr1	117659307	117659307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcccatgatttctcctGcggcatccttacaaagcagg	8	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:117659307G>A	uc001egz.2	-	3	1871	c.1283C>T	c.(1282-1284)GCA>GTA	p.A428V	TRIM45_uc009whe.2_Missense_Mutation_p.A410V|TRIM45_uc001eha.2_Missense_Mutation_p.A324V	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	428	Filamin.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	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)		GATTTCTCCTGCGGCATCCTT	0.478													A	117659307	G	A	117659307	3	1	235	1	0	0	0	0	1	0	0	0	16517	1319	46	2	475	2	TRIM45	1	117659307	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1348242	117659307	131591314	91	117684											
SPAG17	200162	broad.mit.edu	37	chr1	118567980	118567980	+	Frame_Shift_Del	DEL	G	G	-													ctcatagtgcttcaccctctGggggtagctctgacggacca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:118567980delG	uc001ehk.2	-	27	3858	c.3790delC	c.(3790-3792)CAGfs	p.Q1264fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1264						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TTCACCCTCTGGGGGTAGCTC	0.458													-	118567980	G	-	118567980	7	5	235	1	0	1	0	1	0	0	0	0	14979	1357	47	0	2969	0	SPAG17	1	118567980	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	908673	118567980	130682641	92	117685											
PDE4DIP	9659	broad.mit.edu	37	chr1	144904728	144904728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctactagtccttctagcaTcagcagcaactgagtaaaga	7	10	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:144904728T>C	uc001elw.3	-	20	2875	c.2584A>G	c.(2584-2586)ATG>GTG	p.M862V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M928V|PDE4DIP_uc001emc.1_Missense_Mutation_p.M862V|PDE4DIP_uc001emd.1_Missense_Mutation_p.M862V|PDE4DIP_uc001emb.1_Missense_Mutation_p.M1025V|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Missense_Mutation_p.M647V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	862	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTCTAGCATCAGCAGCAAC	0.443			T	PDGFRB	MPD								C	144904728	T	C	144904728	3	2	235	1	0	0	0	0	1	0	0	0	11643	1435	50	3	4566	3	PDE4DIP	1	144904728	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	26336748	144904728	104345893	93	117686											
PDE4DIP	9659	broad.mit.edu	37	chr1	144915570	144915570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcctttcgctgtagacGctggcacagctcctctgcta	8	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:144915570G>A	uc001elw.3	-	14	2146	c.1855C>T	c.(1855-1857)CGT>TGT	p.R619C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R685C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R619C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R619C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R782C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R148C|PDE4DIP_uc001emf.1_Missense_Mutation_p.R404C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	619	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGCTGTAGACGCTGGCACAGC	0.483			T	PDGFRB	MPD								A	144915570	G	A	144915570	3	1	235	1	0	0	0	0	1	0	0	0	11643	1087	38	1	5319	1	PDE4DIP	1	144915570	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10842	144915570	104335051	94	117687											
BCL9	607	broad.mit.edu	37	chr1	147095697	147095697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccaaaccccgtggttcCgatgccaaccctcagcccaa	8	17	1	0	rs139858510	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:147095697C>T	uc001epq.2	+	10	3958	c.3218C>T	c.(3217-3219)CCG>CTG	p.P1073L	BCL9_uc010ozr.1_Missense_Mutation_p.P987L	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1073	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCCGTGGTTCCGATGCCAACC	0.463			T	IGH@|IGL@	B-ALL								T	147095697	C	T	147095697	3	4	235	1	0	0	0	0	1	0	0	0	1381	652	23	1	3244	1	BCL9	1	147095697	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2180127	147095697	102154924	95	117688											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131249	150131249	+	Frame_Shift_Del	DEL	C	C	-													agacaaaggggccacctacaCcccccaggcacccaagaagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:150131248_150131248AC>A	uc001ett.3	+	5	1038	c.760_760AC>A	c.(760-762)accfs	p.T254fs	PLEKHO1_uc001ets.3_Frame_Shift_Del_p.T71fs|PLEKHO1_uc001etu.3_Frame_Shift_Del_p.T82fs|PLEKHO1_uc021oyc.1_Frame_Shift_Del_p.T71fs	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	254	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|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)			GGCCACCTACACCCCCCAGGC	0.647													-	150131249	C	-	150131249	7	5	235	1	0	1	0	1	0	0	0	0	12084	507	18	0	783	0	PLEKHO1	1	150131249	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	3035552	150131249	99119372	96	117689											
TARS2	80222	broad.mit.edu	37	chr1	150469093	150469093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaattgcgggaccaccggCgcattgggaaggtacaggaa	15	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:150469093C>T	uc001euq.2	+	8	917	c.910C>T	c.(910-912)CGC>TGC	p.R304C	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Intron|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	304					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	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)	GGACCACCGGCGCATTGGGAA	0.512													T	150469093	C	T	150469093	3	4	235	1	0	0	0	0	1	0	0	0	15557	768	27	1	940	1	TARS2	1	150469093	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	337844	150469093	98781528	97	117690											
ECM1	1893	broad.mit.edu	37	chr1	150482172	150482172	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccccacccctatccCgaagcctccccatggatcac	4	24	1	0	rs121909115		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:150482172C>T	uc001eus.2	+	3	356	c.157C>T	c.(157-159)CGA>TGA	p.R53*	ECM1_uc010pce.1_5'UTR|ECM1_uc010pcf.1_5'UTR|ECM1_uc001eut.2_Nonsense_Mutation_p.R53*|ECM1_uc001euu.2_Nonsense_Mutation_p.R53*|ECM1_uc001euv.2_Nonsense_Mutation_p.R53*|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	53					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			ovary(2)|central_nervous_system(1)	3	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)			ACCCCTATCCCGAAGCCTCCC	0.607													T	150482172	C	T	150482172	4	4	235	1	0	0	0	0	0	1	0	0	4897	644	23	1	167	1	ECM1	1	150482172	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	13079	150482172	98768449	98	117691											
PSMB4	5692	broad.mit.edu	37	chr1	151374105	151374105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatattgcccacatgatcAggtgagtaatagggaaaaaa	12	5	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:151374105A>G	uc001eyc.1	+	6	804	c.781A>G	c.(781-783)AGT>GGT	p.S261G	PSMB4_uc001eyb.1_3'UTR	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	261					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			ovary(2)	2	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)			CCACATGATCAGGTGAGTAAT	0.458													G	151374105	A	G	151374105	3	3	235	1	0	0	0	0	1	0	0	0	12679	202	7	3	803	3	PSMB4	1	151374105	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	891933	151374105	97876516	99	117692											
FLG	2312	broad.mit.edu	37	chr1	152286885	152286885	+	Frame_Shift_Del	DEL	T	T	-													ggtgaatatccttttctttcTtttttttcagaactagattc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:152286884_152286884CT>C	uc001ezu.1	-	2	514	c.478_478AG>G	c.(478-480)gaafs	p.E160fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	160					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)			CCTTTTCTTTCTTTTTTTTCA	0.338									Ichthyosis				-	152286885	T	-	152286885	7	5	235	1	0	1	0	1	0	0	0	0	5922	1606	56	0	11712	0	FLG	1	152286885	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	912780	152286885	96963736	100	117693											
INTS3	65123	broad.mit.edu	37	chr1	153723713	153723713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcactgcttcgggaaCgggtgagggaacaggacaaa	14	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:153723713C>T	uc009wom.2	+	8	948	c.727C>T	c.(727-729)CGG>TGG	p.R243W	INTS3_uc001fct.2_Missense_Mutation_p.R243W|INTS3_uc001fcu.2_Translation_Start_Site|INTS3_uc001fcv.2_Missense_Mutation_p.R37W|INTS3_uc010peb.1_Missense_Mutation_p.R37W|INTS3_uc001fcw.2_Translation_Start_Site	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	244					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	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)			GCTTCGGGAACGGGTGAGGGA	0.517													T	153723713	C	T	153723713	3	4	235	1	0	0	0	0	1	0	0	0	7779	527	19	1	753	1	INTS3	1	153723713	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1436828	153723713	95526908	101	117694											
SLC27A3	11000	broad.mit.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-													tggcagccctagttctgcgtCccccccacgctttggacctt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622													-	153751860	C	-	153751860	7	5	235	1	0	1	0	1	0	0	0	0	14527	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	28147	153751860	95498761	102	117695											
PKLR	5313	broad.mit.edu	37	chr1	155265486	155265486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgggagaagttgagtcgCgcaatgttcatcccggcctt	13	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:155265486C>T	uc001fkb.3	-	3	384	c.345G>A	c.(343-345)GCG>GCA	p.A115A	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A84A|PKLR_uc010pga.1_Silent_p.A51A	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	115			A -> P (in PKRD; Val de Marne).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGTTGAGTCGCGCAATGTTCA	0.642													T	155265486	C	T	155265486	2	4	235	1	0	0	0	0	0	0	0	1	11976	755	27	1		1	PKLR	1	155265486	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1513626	155265486	93985135	103	117696											
GON4L	54856	broad.mit.edu	37	chr1	155735156	155735156	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactgtctgtttcgttacttCtccagcactgctcaactcct	6	14	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:155735156C>A	uc001flz.2	-	21	4205	c.4108G>T	c.(4108-4110)GAA>TAA	p.E1370*	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Nonsense_Mutation_p.E1370*|GON4L_uc009wrh.1_Nonsense_Mutation_p.E1370*|GON4L_uc001fma.1_Nonsense_Mutation_p.E1370*|GON4L_uc001fmb.3_Nonsense_Mutation_p.E566*|GON4L_uc001fmc.2_Nonsense_Mutation_p.E1370*|GON4L_uc001fmd.3_Nonsense_Mutation_p.E1370*|GON4L_uc009wri.2_Nonsense_Mutation_p.E956*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1370					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCGTTACTTCTCCAGCACTG	0.502													A	155735156	C	A	155735156	4	1	235	1	0	0	0	0	0	1	0	0	6572	922	32	5	2779	5	GON4L	1	155735156	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	469670	155735156	93515465	104	117697											
TMEM79	84283	broad.mit.edu	37	chr1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C													cgagtgccgaaccttcatgcINSccccccgggtcacccacccc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:156255497_156255498G>GC	uc010phi.2	+	1	676_677	c.480_481G>GC	c.(478-483)atgcccfs	p.M160fs	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_Frame_Shift_Ins_p.M1fs|TMEM79_uc009wrw.3_Frame_Shift_Ins_p.M160fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	160						integral to membrane		p.R163fs*17(1)		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)					GAACCTTCATGCCCCCCCGGGT	0.658													C	156255499	-	C	156255498	7	5	235	1	0	1	1	0	0	0	0	0	16200	739	26	0	483	0	TMEM79	1	156255498	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	520342	156255498	92995123	105	117698											
CRABP2	1382	broad.mit.edu	37	chr1	156675181	156675181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttacccagcactttgaGcaattcctcgaagttttccg	6	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:156675181G>A	uc001fpr.2	-	1	195	c.58C>T	c.(58-60)CTC>TTC	p.L20F		NM_001878	NP_001869	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	20					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			upper_aerodigestive_tract(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGCACTTTGAGCAATTCCTCG	0.582													A	156675181	G	A	156675181	3	1	235	1	0	0	0	0	1	0	0	0	3844	971	34	2	374	2	CRABP2	1	156675181	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	419683	156675181	92575440	106	117699											
OR10R2	343406	broad.mit.edu	37	chr1	158450438	158450438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggcagacggaaagcGttttccacctgcgcctctca	12	13	1	2	rs145805567		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158450438G>A	uc010pik.1	+	1	771	c.771G>A	c.(769-771)GCG>GCA	p.A257A	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	257	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					GACGGAAAGCGTTTTCCACCT	0.458													A	158450438	G	A	158450438	2	1	235	1	0	0	0	0	0	0	0	1	10917	1132	40	1		1	OR10R2	1	158450438	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1775257	158450438	90800183	107	117700											
OR6K2	81448	broad.mit.edu	37	chr1	158669736	158669736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgtggaaaatgctgtgCggcggcctccagctgaatga	13	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158669736C>T	uc001fsu.1	-	1	707	c.707G>A	c.(706-708)CGC>CAC	p.R236H		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					AAATGCTGTGCGGCGGCCTCC	0.463													T	158669736	C	T	158669736	3	4	235	1	0	0	0	0	1	0	0	0	11202	768	27	1	271	1	OR6K2	1	158669736	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	219298	158669736	90580885	108	117701											
OR6K6	128371	broad.mit.edu	37	chr1	158725437	158725437	+	Frame_Shift_Del	DEL	T	T	-													accttgctgtgttcttgctaTtttttggcagtgtggctgtc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158725436_158725436AT>A	uc001fsw.1	+	0	831	c.831_831AT>A	c.(829-831)ctafs	p.L277fs		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	277					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)					TGTTCTTGCTATTTTTTGGCA	0.458													-	158725437	T	-	158725437	7	5	235	1	0	1	0	1	0	0	0	0	11204	1493	52	0	834	0	OR6K6	1	158725437	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	55701	158725437	90525184	109	117702											
MNDA	4332	broad.mit.edu	37	chr1	158817665	158817665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaactgagaacagttgacCgcaagctgaaactggtgtgt	11	8	1	3	rs139902913		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:158817665C>T	uc001fsz.1	+	6	1335	c.1135C>T	c.(1135-1137)CGC>TGC	p.R379C		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	379	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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AACAGTTGACCGCAAGCTGAA	0.443													T	158817665	C	T	158817665	3	4	235	1	0	0	0	0	1	0	0	0	9676	652	23	1	1153	1	MNDA	1	158817665	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	92228	158817665	90432956	110	117703											
KCNJ10	3766	broad.mit.edu	37	chr1	160012018	160012018	+	Frame_Shift_Del	DEL	G	G	-													cacagggggtgtggttggccGgggggtccagctccagcagg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:160012017_160012017CG>C	uc001fuw.2	-	1	546	c.306_306CG>G	c.(304-306)ccgfs	p.P102fs		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			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)			TGTGGTTGGCCGGGGGGTCCA	0.582													-	160012018	G	-	160012018	7	5	235	1	0	1	0	1	0	0	0	0	8044	1116	39	0	838	0	KCNJ10	1	160012018	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1194353	160012018	89238603	111	117704											
ATP1A2	477	broad.mit.edu	37	chr1	160100380	160100380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagtgccgaagcgcagGcatcaaggtactggcctccc	14	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:160100380G>A	uc001fvc.2	+	13	1952	c.1820G>A	c.(1819-1821)GGC>GAC	p.G607D	ATP1A2_uc001fvb.2_Missense_Mutation_p.G607D|ATP1A2_uc001fvd.2_Missense_Mutation_p.G343D|ATP1A2_uc009wtg.1_Missense_Mutation_p.G295D	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	607	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			CGAAGCGCAGGCATCAAGGTA	0.602													A	160100380	G	A	160100380	3	1	235	1	0	0	0	0	1	0	0	0	1129	1203	42	2	1870	2	ATP1A2	1	160100380	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	88362	160100380	89150241	112	117705											
CD84	8832	broad.mit.edu	37	chr1	160523188	160523188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcttctcttgaacaaaCggaacaaaaacactgaagac	6	10	2	3	rs144013322		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:160523188C>T	uc001fwh.3	-	4	764	c.740G>A	c.(739-741)CGT>CAT	p.R247H	CD84_uc001fwf.3_Missense_Mutation_p.R247H|CD84_uc001fwg.3_Missense_Mutation_p.R247H|CD84_uc009wtn.2_Missense_Mutation_p.R247H|CD84_uc001fwi.3_Missense_Mutation_p.R133H|CD84_uc001fwj.2_Missense_Mutation_p.R247H	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	247	Cytoplasmic (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTGAACAAACGGAACAAAAA	0.468													T	160523188	C	T	160523188	3	4	235	1	0	0	0	0	1	0	0	0	3042	536	19	1	317	1	CD84	1	160523188	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	422808	160523188	88727433	113	117706											
FCRLA	84824	broad.mit.edu	37	chr1	161681180	161681180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacaaaaggcagacagcGggcactaccactgcagtggc	13	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:161681180G>A	uc001gbe.2	+	4	726	c.484G>A	c.(484-486)GGG>AGG	p.G162R	FCRLA_uc001gbd.2_Missense_Mutation_p.G156R|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	139	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCAGACAGCGGGCACTACCA	0.572													A	161681180	G	A	161681180	3	1	235	1	0	0	0	0	1	0	0	0	5800	1116	39	1	498	1	FCRLA	1	161681180	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1157992	161681180	87569441	114	117707											
NOS1AP	9722	broad.mit.edu	37	chr1	162335235	162335235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctgctgaggctgcggcGcggctggaggcccaggctcg	19	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:162335235G>A	uc001gbv.2	+	9	1368	c.981G>A	c.(979-981)GCG>GCA	p.A327A	NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.A322A|NOS1AP_uc009wut.1_Silent_p.A32A	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	327	Potential.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGCTGCGGCGCGGCTGGAGG	0.587													A	162335235	G	A	162335235	2	1	235	1	0	0	0	0	0	0	0	1	10542	1074	38	1		1	NOS1AP	1	162335235	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	654055	162335235	86915386	115	117708											
UHMK1	127933	broad.mit.edu	37	chr1	162470791	162470791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcctgcagagtgataCagaatgtacctcagctgttg	13	9	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:162470791C>A	uc001gcc.1	+	3	786	c.650C>A	c.(649-651)ACA>AAA	p.T217K	UHMK1_uc001gcb.1_Missense_Mutation_p.T143K|UHMK1_uc009wuu.1_Missense_Mutation_p.T217K	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	217	Protein kinase.				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				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CAGAGTGATACAGAATGTACC	0.438													A	162470791	C	A	162470791	3	1	235	1	0	0	0	0	1	0	0	0	16963	478	17	5	710	5	UHMK1	1	162470791	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	135556	162470791	86779830	116	117709											
SELL	6402	broad.mit.edu	37	chr1	169677835	169677835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgccttgttttgtatggcAactaaatctgtgtaattgtc	8	8	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:169677835A>G	uc001ggk.2	-	3	393	c.195T>C	c.(193-195)GTT>GTC	p.V65V	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Silent_p.V18V|SELL_uc001ggl.1_Silent_p.V78V	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	65	C-type lectin.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					TTTGTATGGCAACTAAATCTG	0.433													G	169677835	A	G	169677835	2	3	235	1	0	0	0	0	0	0	0	1	14016	117	5	3		3	SELL	1	169677835	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	7207044	169677835	79572786	117	117710											
C1orf129	80133	broad.mit.edu	37	chr1	170955773	170955773	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgatgaaactctcttcAcctgatgataaaatcgcatc	5	12	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:170955773A>G	uc001ghg.2	+	10	931	c.801A>G	c.(799-801)TCA>TCG	p.S267S	C1orf129_uc009wvy.2_Silent_p.S74S|C1orf129_uc010plz.1_Silent_p.S267S	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	267							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACTCTCTTCACCTGATGATA	0.438													G	170955773	A	G	170955773	2	3	235	1	0	0	0	0	0	0	0	1	1996	146	6	3		3	C1orf129	1	170955773	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1277938	170955773	78294848	118	117711											
QSOX1	5768	broad.mit.edu	37	chr1	180165944	180165944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaggtcaggcgcgtgggCcgcagctccaagcagctggt	17	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:180165944C>T	uc001gnz.2	+	12	2091	c.2016C>T	c.(2014-2016)GGC>GGT	p.G672G	QSOX1_uc001gny.2_Intron|QSOX1_uc001goa.2_Intron|QSOX1_uc001goc.2_Silent_p.G214G|FLJ23867_uc001god.3_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	672					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GGCGCGTGGGCCGCAGCTCCA	0.677													T	180165944	C	T	180165944	2	4	235	1	0	0	0	0	0	0	0	1	12883	726	26	2		2	QSOX1	1	180165944	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	9210171	180165944	69084677	119	117712											
CACNA1E	777	broad.mit.edu	37	chr1	181708297	181708298	+	Frame_Shift_Ins	INS	-	-	T													tgcagatgatagaccaaggcINSttgatcctgcaggatgggtc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:181708297_181708298insT	uc001gow.2	+	25	3792_3793	c.3627_3628insT	c.(3625-3630)GGCTTGfs	p.G1209fs	CACNA1E_uc009wxs.2_Frame_Shift_Ins_p.G1097fs|CACNA1E_uc001gox.1_Frame_Shift_Ins_p.G435fs|CACNA1E_uc009wxt.2_Frame_Shift_Ins_p.G435fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1209_1210	III.|Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TAGACCAAGGCTTGATCCTGCA	0.535													T	181708298	-	T	181708297	7	5	235	1	0	1	1	0	0	0	0	0	2542	784	28	0	3725	0	CACNA1E	1	181708297	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1542353	181708297	67542324	120	117713	565	2									
CACNA1E	777	broad.mit.edu	37	chr1	181708298	181708299	+	Frame_Shift_Ins	INS	-	-	T													gcagatgatagaccaaggctINStgatcctgcaggatgggtcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:181708297_181708298C>CT	uc009wxt.3	+	24	3822_3823	c.3627_3628C>CT	c.(3625-3630)ggcttgfs	p.G1209fs	CACNA1E_uc001gow.3_Frame_Shift_Ins_p.G1209fs|CACNA1E_uc009wxs.3_Frame_Shift_Ins_p.G1190fs|CACNA1E_uc001gox.1_Frame_Shift_Ins_p.G435fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1209					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						TAGACCAAGGCTTGATCCTGCA	0.535													T	181708299	-	T	181708298	7	5	235	1	0	1	1	0	0	0	0	0	2542	1606	56	0	3726	0	CACNA1E	1	181708298	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	181708298	67542323	121	117714	565	2									
PRG4	10216	broad.mit.edu	37	chr1	186280259	186280259	+	Frame_Shift_Del	DEL	T	T	-													tccttcccccattgatactgTttttactaggtgcaactgtg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:186280259delT	uc001gru.3	+	9	3644	c.3593delT	c.(3592-3594)GTTfs	p.V1198fs	PRG4_uc001grt.3_Frame_Shift_Del_p.V1157fs|PRG4_uc009wyl.2_Frame_Shift_Del_p.V1105fs|PRG4_uc009wym.2_Frame_Shift_Del_p.V1064fs|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1198	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ATTGATACTGTTTTTACTAGG	0.343													-	186280259	T	-	186280259	7	5	235	1	0	1	0	1	0	0	0	0	12481	1725	60	0	3623	0	PRG4	1	186280259	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	4571961	186280259	62970362	122	117715											
FAM5C	339479	broad.mit.edu	37	chr1	190068210	190068210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagctgcctaggaggccGttctcattgcagtagagaaa	12	8	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:190068210G>A	uc001gse.1	-	8	1471	c.1239C>T	c.(1237-1239)AAC>AAT	p.N413N	FAM5C_uc010pot.1_Silent_p.N311N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	413						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTAGGAGGCCGTTCTCATTGC	0.493													A	190068210	G	A	190068210	2	1	235	1	0	0	0	0	0	0	0	1	5594	1136	40	1		1	FAM5C	1	190068210	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3787951	190068210	59182411	123	117716											
NEK7	140609	broad.mit.edu	37	chr1	198222297	198222298	+	Frame_Shift_Ins	INS	-	-	A													gatggagtaccagtagctttINSaaaaaaagtgcaggtaagat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:198222297_198222298insA	uc001gun.3	+	3	512_513	c.185_186insA	c.(184-186)TTAfs	p.L62fs		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						CCAGTAGCTTTAAAAAAAGTGC	0.317													A	198222298	-	A	198222297	7	5	235	1	0	1	1	0	0	0	0	0	10329	1764	61	0	191	0	NEK7	1	198222297	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	8154087	198222297	51028324	124	117717	566	2									
NEK7	140609	broad.mit.edu	37	chr1	198222298	198222299	+	Frame_Shift_Ins	INS	-	-	A													atggagtaccagtagctttaINSaaaaaagtgcaggtaagatg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:198222297_198222298T>TA	uc001gun.4	+	2	512_513	c.185_186T>TA	c.(184-186)ttafs	p.L62fs	NEK7_uc021pgx.1_Frame_Shift_Ins_p.L62fs	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V65fs*5(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCAGTAGCTTTAAAAAAAGTGC	0.317													A	198222299	-	A	198222298	7	5	235	1	0	1	1	0	0	0	0	0	10329	359	13	0	192	0	NEK7	1	198222298	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	198222298	51028323	125	117718	566	2									
CACNA1S	779	broad.mit.edu	37	chr1	201012450	201012450	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatggttgctgttgccataGgcgacattggcgttggcatt	13	8	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:201012450G>T	uc001gvv.2	-	40	5234	c.5007C>A	c.(5005-5007)GCC>GCA	p.A1669A		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1669	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTTGCCATAGGCGACATTGG	0.552											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	201012450	G	T	201012450	2	4	235	1	0	0	0	0	0	0	0	1	2547	987	35	5		5	CACNA1S	1	201012450	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2790152	201012450	48238171	126	117719											
IGFN1	91156	broad.mit.edu	37	chr1	201196181	201196181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcaagaatgaccgcaGcctggaaggaaaccccgcgg	13	12	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:201196181G>T	uc001gwc.2	+	12	3210	c.2438G>T	c.(2437-2439)AGC>ATC	p.S813I	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						AATGACCGCAGCCTGGAAGGA	0.667													T	201196181	G	T	201196181	3	4	235	1	0	0	0	0	1	0	0	0	7590	971	34	5	11044	5	IGFN1	1	201196181	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	183731	201196181	48054440	127	117720											
LGR6	59352	broad.mit.edu	37	chr1	202287739	202287739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggccgtgtgggactgcGccatggtgaggcacgtggcc	18	10	0	2	rs145532673	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:202287739G>A	uc001gxu.2	+	18	2308	c.2308G>A	c.(2308-2310)GCC>ACC	p.A770T	LGR6_uc001gxv.2_Missense_Mutation_p.A718T|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.A631T	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	770	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GTGGGACTGCGCCATGGTGAG	0.612													A	202287739	G	A	202287739	3	1	235	1	0	0	0	0	1	0	0	0	8758	1087	38	1	2525	1	LGR6	1	202287739	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1091558	202287739	46962882	128	117721											
MYOG	4656	broad.mit.edu	37	chr1	203054835	203054835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttctccctcagtgtggcCgcccgccgccggtccacgga	12	19	2	0	rs148417428		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:203054835C>T	uc001gzd.2	-	1	543	c.255G>A	c.(253-255)GCG>GCA	p.A85A		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	85	Basic motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						TCAGTGTGGCCGCCCGCCGCC	0.657													T	203054835	C	T	203054835	2	4	235	1	0	0	0	0	0	0	0	1	10090	639	23	1		1	MYOG	1	203054835	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	767096	203054835	46195786	129	117722											
SOX13	9580	broad.mit.edu	37	chr1	204094988	204094988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctctgccccacagccCgcaggctggccaggtgcaga	11	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:204094988C>T	uc001ham.2	+	14	2190	c.1595C>T	c.(1594-1596)CCG>CTG	p.P532L	SOX13_uc010pqp.1_Missense_Mutation_p.P531L|SOX13_uc010pqq.1_Missense_Mutation_p.P399L	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	532					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCCACAGCCCGCAGGCTGGC	0.622													T	204094988	C	T	204094988	3	4	235	1	0	0	0	0	1	0	0	0	14944	652	23	1	1645	1	SOX13	1	204094988	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1040153	204094988	45155633	130	117723											
DSTYK	25778	broad.mit.edu	37	chr1	205119923	205119923	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggttctgcttatccagCtgccaacaaagcagggcaag	11	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:205119923C>T	uc001hbw.2	-	11	2417	c.2353_splice	c.e11-1	p.L785_splice	DSTYK_uc001hbx.2_Splice_Site_p.L785_splice	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1							cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						GCTTATCCAGCTGCCAACAAA	0.517													T	205119923	C	T	205119923	5	4	235	1	0	0	0	0	0	0	1	0	4785	811	28	2	449	2	DSTYK	1	205119923	Splice_Site	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1024935	205119923	44130698	131	117724											
TMCC2	9911	broad.mit.edu	37	chr1	205238117	205238117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctgagcctccccgccGgccatggtgacaccgacggc	13	18	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:205238117G>A	uc001hbz.1	+	4	1231	c.787G>A	c.(787-789)GGC>AGC	p.G263S	TMCC2_uc010prf.1_Missense_Mutation_p.G185S|TMCC2_uc001hca.2_Missense_Mutation_p.G38S|TMCC2_uc001hcb.1_Missense_Mutation_p.G23S|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Missense_Mutation_p.G30S	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	263						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCCGCCGGCCATGGTGA	0.662													A	205238117	G	A	205238117	3	1	235	1	0	0	0	0	1	0	0	0	15990	1116	39	1	797	1	TMCC2	1	205238117	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	118194	205238117	44012504	132	117725											
MFSD4	148808	broad.mit.edu	37	chr1	205548987	205548987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggcctcagtcatggcGctggcgggcttggccatggg	18	11	2	0	rs150786831		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:205548987G>A	uc001hcv.3	+	2	425	c.339G>A	c.(337-339)GCG>GCA	p.A113A	MFSD4_uc010prk.1_Silent_p.A113A|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.A58A	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	113	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CAGTCATGGCGCTGGCGGGCT	0.622													A	205548987	G	A	205548987	2	1	235	1	0	0	0	0	0	0	0	1	9533	1074	38	1		1	MFSD4	1	205548987	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	310870	205548987	43701634	133	117726											
CR1L	1379	broad.mit.edu	37	chr1	207818618	207818618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcgtccctttccttccCggcgctttcctgggttgctt	10	15	0	0	rs61739989	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:207818618C>T	uc001hga.3	+	1	161	c.40C>T	c.(40-42)CGG>TGG	p.R14W	CR1L_uc001hfz.2_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	14						cytoplasm|extracellular region|membrane					0						CTTTCCTTCCCGGCGCTTTCC	0.667													T	207818618	C	T	207818618	3	4	235	1	0	0	0	0	1	0	0	0	3841	643	23	1	42	1	CR1L	1	207818618	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2269631	207818618	41432003	134	117727											
IRF6	3664	broad.mit.edu	37	chr1	209968664	209968664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaaggggaaggtgtccTggatgggaacatggtgctgc	18	6	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:209968664T>C	uc001hhq.1	-	5	742	c.479A>G	c.(478-480)CAG>CGG	p.Q160R	IRF6_uc010psm.1_Missense_Mutation_p.Q65R|IRF6_uc009xct.1_Missense_Mutation_p.Q160R	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	160					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GAAGGTGTCCTGGATGGGAAC	0.502										HNSCC(57;0.16)			C	209968664	T	C	209968664	3	2	235	1	0	0	0	0	1	0	0	0	7834	1580	55	3	944	3	IRF6	1	209968664	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	2150046	209968664	39281957	135	117728											
C1orf107	27042	broad.mit.edu	37	chr1	210017023	210017023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctacttttcacagagcGcttccatttctacaaaaggt	6	10	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:210017023G>A	uc001hhr.1	+	11	2085	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H	C1orf107_uc009xcu.1_Missense_Mutation_p.R385H	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	670					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TTCACAGAGCGCTTCCATTTC	0.493													A	210017023	G	A	210017023	3	1	235	1	0	0	0	0	1	0	0	0	1981	1087	38	1	2051	1	C1orf107	1	210017023	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	48359	210017023	39233598	136	117729											
TMEM206	55248	broad.mit.edu	37	chr1	212583792	212583792	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatacccggaccttggacTctgaccgtctccttgtcctg	9	14	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:212583792T>G	uc001hjc.3	-	2	276	c.108A>C	c.(106-108)AGA>AGC	p.R36S	TMEM206_uc010pte.1_Missense_Mutation_p.R97S	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	36	Cytoplasmic (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GACCTTGGACTCTGACCGTCT	0.562													G	212583792	T	G	212583792	3	3	235	1	0	0	0	0	1	0	0	0	16128	1548	54	5	972	5	TMEM206	1	212583792	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	2566769	212583792	36666829	137	117730											
CENPF	1063	broad.mit.edu	37	chr1	214816309	214816309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccaggaaagaaaccccttCggccccagcgaagggtgttg	13	12	0	1	rs141012292	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:214816309C>T	uc001hkm.2	+	12	4802	c.4628C>T	c.(4627-4629)TCG>TTG	p.S1543L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1639					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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAACCCCTTCGGCCCCAGCG	0.493													T	214816309	C	T	214816309	3	4	235	1	0	0	0	0	1	0	0	0	3231	893	31	1	4670	1	CENPF	1	214816309	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2232517	214816309	34434312	138	117731											
ESRRG	2104	broad.mit.edu	37	chr1	216850658	216850658	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtggcgagtcaagtcCgttctgatggccattcatgg	15	8	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:216850658C>A	uc001hkw.1	-	2	398	c.232G>T	c.(232-234)GGA>TGA	p.G78*	ESRRG_uc001hky.1_Nonsense_Mutation_p.G55*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.G55*|ESRRG_uc010puc.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hla.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.G55*|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hld.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.G83*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.G55*|ESRRG_uc001hle.1_Nonsense_Mutation_p.G55*	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	78					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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GAGTCAAGTCCGTTCTGATGG	0.567													A	216850658	C	A	216850658	4	1	235	1	0	0	0	0	0	1	0	0	5262	661	23	5	1168	5	ESRRG	1	216850658	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2034349	216850658	32399963	139	117732											
GPATCH2	55105	broad.mit.edu	37	chr1	217793655	217793655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtgaccagtctcccaCgggtgatgcacattatacga	10	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:217793655C>T	uc001hlf.1	-	2	339	c.243G>A	c.(241-243)CCG>CCA	p.P81P	GPATCH2_uc001hlg.3_Silent_p.P81P	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	81						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CAGTCTCCCACGGGTGATGCA	0.433													T	217793655	C	T	217793655	2	4	235	1	0	0	0	0	0	0	0	1	6591	523	19	1		1	GPATCH2	1	217793655	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	942997	217793655	31456966	140	117733											
GPATCH2	55105	broad.mit.edu	37	chr1	217793681	217793681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacattatacgacctccGttttctccctctccttttcc	3	16	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:217793681G>A	uc001hlf.1	-	2	313	c.217C>T	c.(217-219)CGG>TGG	p.R73W	GPATCH2_uc001hlg.3_Missense_Mutation_p.R73W	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	73						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TACGACCTCCGTTTTCTCCCT	0.478													A	217793681	G	A	217793681	3	1	235	1	0	0	0	0	1	0	0	0	6591	1144	40	1	1405	1	GPATCH2	1	217793681	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	26	217793681	31456940	141	117734											
EPRS	2058	broad.mit.edu	37	chr1	220208265	220208265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcttacctcagtatgTtccatcagattagagccata	6	10	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:220208265T>C	uc001hly.1	-	3	492	c.222A>G	c.(220-222)GAA>GAG	p.E74E	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Silent_p.E74E|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	74					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			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCTCAGTATGTTCCATCAGAT	0.348													C	220208265	T	C	220208265	2	2	235	1	0	0	0	0	0	0	0	1	5191	1722	60	3		3	EPRS	1	220208265	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	2414584	220208265	29042356	142	117735											
MOSC1	64757	broad.mit.edu	37	chr1	220970104	220970104	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgagcctcacatgcgaccgaGacgtcctcatcaaatagcag	9	14	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:220970104G>A	uc001hms.2	+	3	817	c.569G>A	c.(568-570)AGA>AAA	p.R190K	MOSC1_uc001hmt.2_Missense_Mutation_p.R190K	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	MOCO sulphurase C-terminal domain containing 1	190	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.0358)		ATGCGACCGAGACGTCCTCAT	0.602													A	220970104	G	A	220970104	3	1	235	1	0	0	0	0	1	0	0	0	9713	942	33	4	579	4	MOSC1	1	220970104	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	761839	220970104	28280517	143	117736											
HLX	3142	broad.mit.edu	37	chr1	221053223	221053223	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcagccgggctggctccCttctacgcctccaacttcag	9	17	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:221053223C>A	uc001hmv.3	+	1	481	c.24C>A	c.(22-24)CCC>CCA	p.P8P		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	8					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		GGCTGGCTCCCTTCTACGCCT	0.731													A	221053223	C	A	221053223	2	1	235	1	0	0	0	0	0	0	0	1	7216	668	24	5		5	HLX	1	221053223	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	83119	221053223	28197398	144	117737											
OBSCN	84033	broad.mit.edu	37	chr1	228464338	228464338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacaccctcacactctcGgggctgcggccagaggatag	12	14	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:228464338G>A	uc009xez.1	+	22	6452	c.6408G>A	c.(6406-6408)TCG>TCA	p.S2136S	OBSCN_uc001hsn.2_Silent_p.S2136S|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2136	Ig-like 21.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCACACTCTCGGGGCTGCGGC	0.692													A	228464338	G	A	228464338	2	1	235	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228464338	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7411115	228464338	20786283	145	117738											
OBSCN	84033	broad.mit.edu	37	chr1	228525710	228525710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagcaggatgccatcacGctgcgggaaggccagtatgt	15	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:228525710G>A	uc009xez.1	+	67	16910	c.16866G>A	c.(16864-16866)ACG>ACA	p.T5622T	OBSCN_uc001hsn.2_Silent_p.T5622T|OBSCN_uc001hsr.1_Silent_p.T250T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5622	SH3.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ATGCCATCACGCTGCGGGAAG	0.627													A	228525710	G	A	228525710	2	1	235	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228525710	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	61372	228525710	20724911	146	117739											
ACTA1	58	broad.mit.edu	37	chr1	229568322	229568322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtggtcctgccggaggcGtagagggacagcacggcctg	18	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:229568322G>A	uc001htm.2	-	3	540	c.435C>T	c.(433-435)TAC>TAT	p.Y145Y		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	145					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				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGCCGGAGGCGTAGAGGGACA	0.478													A	229568322	G	A	229568322	2	1	235	1	0	0	0	0	0	0	0	1	191	1140	40	1		1	ACTA1	1	229568322	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1042612	229568322	19682299	147	117740											
CAPN9	10753	broad.mit.edu	37	chr1	230903329	230903329	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagggaggcagcgccatCgaggccatggaagacttcac	14	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:230903329C>T	uc001htz.1	+	5	692	c.579C>T	c.(577-579)ATC>ATT	p.I193I	CAPN9_uc009xfg.1_Silent_p.I130I|CAPN9_uc001hua.1_Silent_p.I193I	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	193	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCAGCGCCATCGAGGCCATGG	0.557													T	230903329	C	T	230903329	2	4	235	1	0	0	0	0	0	0	0	1	2632	874	31	1		1	CAPN9	1	230903329	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1335007	230903329	18347292	148	117741											
C1orf124	83932	broad.mit.edu	37	chr1	231488893	231488894	+	Frame_Shift_Ins	INS	-	-	T													gataagactgtttttgacaaINStttttttatcaagaaagagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:231488893_231488894insT	uc001hur.2	+	5	1704_1705	c.1256_1257insT	c.(1255-1257)AATfs	p.N419fs	C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	419					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTTTTTGACAATTTTTTTATCA	0.396													T	231488894	-	T	231488893	7	5	235	1	0	1	1	0	0	0	0	0	1992	101	4	0	1309	0	C1orf124	1	231488893	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	585564	231488893	17761728	149	117742	567	2									
C1orf124	83932	broad.mit.edu	37	chr1	231488894	231488895	+	Frame_Shift_Ins	INS	-	-	T													ataagactgtttttgacaatINSttttttatcaagaaagagca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:231488893_231488894A>AT	uc001hur.3	+	4	1704_1705	c.1256_1257A>AT	c.(1255-1257)aatfs	p.N419fs	C1orf124_uc001hus.3_3'UTR|C1orf124_uc001hut.3_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	Homo sapiens chromosome 1 open reading frame 124 (C1orf124), transcript variant 1, mRNA.	419					DNA repair	nuclear speck	DNA binding|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTTTTTGACAATTTTTTTATCA	0.396													T	231488895	-	T	231488894	7	5	235	1	0	1	1	0	0	0	0	0	1992	1490	52	0	1310	0	C1orf124	1	231488894	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	231488894	17761727	150	117743	567	2									
PCNXL2	80003	broad.mit.edu	37	chr1	233372604	233372604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacgtacccgtggggtttccGactgggtcctgcgagccacc	13	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:233372604G>A	uc001hvl.2	-	9	2580	c.2345C>T	c.(2344-2346)TCG>TTG	p.S782L	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.S81L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	782						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGGGTTTCCGACTGGGTCCT	0.507													A	233372604	G	A	233372604	3	1	235	1	0	0	0	0	1	0	0	0	11592	1059	37	1	4172	1	PCNXL2	1	233372604	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1883710	233372604	15878017	151	117744											
MTR	4548	broad.mit.edu	37	chr1	237057711	237057711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcctctcagacttcatcGctcccttgcattctggcatc	6	16	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:237057711G>A	uc001hyi.3	+	30	3682	c.3259G>A	c.(3259-3261)GCT>ACT	p.A1087T	MTR_uc010pxw.1_Missense_Mutation_p.A680T|MTR_uc010pxx.1_Missense_Mutation_p.A1036T|MTR_uc010pxy.1_Missense_Mutation_p.A941T	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1087	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	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)	AGACTTCATCGCTCCCTTGCA	0.562													A	237057711	G	A	237057711	3	1	235	1	0	0	0	0	1	0	0	0	9958	1087	38	1	3377	1	MTR	1	237057711	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3685107	237057711	12192910	152	117745											
RYR2	6262	broad.mit.edu	37	chr1	237806639	237806639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatagttgattcatgccGggaagggagaagccatcaga	13	7	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:237806639G>A	uc001hyl.1	+	48	7354	c.7234G>A	c.(7234-7236)GGG>AGG	p.G2412R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2412	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GATTCATGCCGGGAAGGGAGA	0.413													A	237806639	G	A	237806639	3	1	235	1	0	0	0	0	1	0	0	0	13769	1116	39	1	7424	1	RYR2	1	237806639	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	748928	237806639	11443982	153	117746											
RYR2	6262	broad.mit.edu	37	chr1	237947294	237947294	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgaacctgcgaaggacatCggcttcaacgtcgccgtcct	10	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:237947294C>T	uc001hyl.1	+	90	12402	c.12282C>T	c.(12280-12282)ATC>ATT	p.I4094I	RYR2_uc010pya.1_Silent_p.I509I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4094					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.I4092I(1)		ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CGAAGGACATCGGCTTCAACG	0.498													T	237947294	C	T	237947294	2	4	235	1	0	0	0	0	0	0	0	1	13769	874	31	1		1	RYR2	1	237947294	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	140655	237947294	11303327	154	117747											
ZP4	57829	broad.mit.edu	37	chr1	238051712	238051712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctataacaacagcctaGcccttcacagtctcctcgag	7	14	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:238051712G>T	uc001hym.2	-	4	499	c.499C>A	c.(499-501)CTA>ATA	p.L167I	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	167	P-type.|Extracellular (Potential).				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			ovary(2)|skin(1)	3	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)			CAACAGCCTAGCCCTTCACAG	0.527													T	238051712	G	T	238051712	3	4	235	1	0	0	0	0	1	0	0	0	18215	962	34	5	1159	5	ZP4	1	238051712	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	104418	238051712	11198909	155	117748											
CHRM3	1131	broad.mit.edu	37	chr1	240072444	240072445	+	Frame_Shift_Ins	INS	-	-	A													gctgctgtgccagtgtgacaINSaaaaaaagaggcgcaagcag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:240072443_240072444C>CA	uc021plc.1	+	0	1692_1693	c.1692_1693C>CA	c.(1690-1695)gacaaafs	p.D564fs	CHRM3_uc001hyp.3_Frame_Shift_Ins_p.D564fs	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	564					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	p.R568fs*>24(1)|p.K567fs*>24(1)		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)	GCCAGTGTGACAAAAAAAAGAG	0.505													A	240072445	-	A	240072444	7	5	235	1	0	1	1	0	0	0	0	0	3378	131	5	0	1695	0	CHRM3	1	240072444	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2020732	240072444	9178177	156	117749											
FMN2	56776	broad.mit.edu	37	chr1	240256986	240256986	+	Frame_Shift_Del	DEL	C	C	-													ggccgccaaggcgtctggggCccccgcggctgcggatggct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:240256986delC	uc010pyd.1	+	1	1802	c.1577delC	c.(1576-1578)GCCfs	p.A526fs	FMN2_uc010pye.1_Frame_Shift_Del_p.A526fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	526					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGTCTGGGGCCCCCGCGGCT	0.726													-	240256986	C	-	240256986	7	5	235	1	0	1	0	1	0	0	0	0	5950	739	26	0	1579	0	FMN2	1	240256986	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	184542	240256986	8993635	157	117750											
EXO1	9156	broad.mit.edu	37	chr1	242035407	242035407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaagaaaaatagctcTgaaggcaataaatcattgag	8	6	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:242035407T>C	uc001hzh.2	+	12	1881	c.1341T>C	c.(1339-1341)TCT>TCC	p.S447S	EXO1_uc001hzi.2_Silent_p.S447S|EXO1_uc001hzj.2_Silent_p.S447S|EXO1_uc009xgq.2_Silent_p.S446S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	447	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAAATAGCTCTGAAGGCAATA	0.373								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	242035407	T	C	242035407	2	2	235	1	0	0	0	0	0	0	0	1	5300	1567	55	3		3	EXO1	1	242035407	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1778421	242035407	7215214	158	117751											
AKT3	10000	broad.mit.edu	37	chr1	243675724	243675724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggtttaaaaggaggtAcaagctgtaaaaagaaagaa	11	3	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:243675724A>G	uc001iab.1	-	12	1337	c.1256T>C	c.(1255-1257)GTA>GCA	p.V419A	AKT3_uc001hzz.1_Missense_Mutation_p.V419A	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	419	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)			AAAAGGAGGTACAAGCTGTAA	0.318													G	243675724	A	G	243675724	3	3	235	1	0	0	0	0	1	0	0	0	481	391	14	3	239	3	AKT3	1	243675724	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1640317	243675724	5574897	159	117752											
KIF26B	55083	broad.mit.edu	37	chr1	245850605	245850605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgaaatttgaggacccGtggctgaaacgagaagagga	15	5	0	6			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:245850605G>A	uc001ibf.1	+	12	4760	c.4320G>A	c.(4318-4320)CCG>CCA	p.P1440P	KIF26B_uc001ibg.1_Silent_p.P1058P|KIF26B_uc001ibh.1_Silent_p.P682P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1440					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			TTGAGGACCCGTGGCTGAAAC	0.552													A	245850605	G	A	245850605	2	1	235	1	0	0	0	0	0	0	0	1	8295	1132	40	1		1	KIF26B	1	245850605	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2174881	245850605	3400016	160	117753											
CNST	163882	broad.mit.edu	37	chr1	246810568	246810568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcctttcggtaactgcAggaaaggaccacatggagga	12	10	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:246810568A>G	uc001ibp.2	+	9	1443	c.1065A>G	c.(1063-1065)GCA>GCG	p.A355A	CNST_uc001ibo.3_Silent_p.A355A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	355					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						CGGTAACTGCAGGAAAGGACC	0.582											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	246810568	A	G	246810568	2	3	235	1	0	0	0	0	0	0	0	1	3634	175	7	3		3	CNST	1	246810568	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	959963	246810568	2440053	161	117754											
ZNF496	84838	broad.mit.edu	37	chr1	247464071	247464071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctttgggacccttgtccGcgtcctcggatgccgcctgc	12	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr1:247464071G>A	uc001ico.2	-	9	1979	c.1514C>T	c.(1513-1515)GCG>GTG	p.A505V	ZNF496_uc009xgv.2_Missense_Mutation_p.A541V|ZNF496_uc001icp.2_Missense_Mutation_p.A505V	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	505					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			ACCCTTGTCCGCGTCCTCGGA	0.637													A	247464071	G	A	247464071	3	1	235	1	0	0	0	0	1	0	0	0	17942	1087	38	1	253	1	ZNF496	1	247464071	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	653503	247464071	1786550	162	117755											
PXDN	7837	broad.mit.edu	37	chr2	1652681	1652681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgtcccgcatgcactcCgtgggcggcccggtggcgaa	14	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:1652681C>T	uc002qxa.2	-	17	2935	c.2871G>A	c.(2869-2871)ACG>ACA	p.T957T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	957					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			pancreas(6)|ovary(2)	8	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)		GCATGCACTCCGTGGGCGGCC	0.726													T	1652681	C	T	1652681	2	4	235	1	0	0	0	0	0	0	0	1	12847	639	23	1		1	PXDN	2	1652681	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08		1652681	241546692	163	117756											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10863007	10863007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggttaatttctgcccctgGcgataaggaaaatttgcaag	10	7	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:10863007G>T	uc002ras.2	+	2	141	c.32G>T	c.(31-33)GGC>GTC	p.G11V	ATP6V1C2_uc002rat.2_Missense_Mutation_p.G11V	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	11					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCTGCCCCTGGCGATAAGGAA	0.438													T	10863007	G	T	10863007	3	4	235	1	0	0	0	0	1	0	0	0	1181	1203	42	5	34	5	ATP6V1C2	2	10863007	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	9210326	10863007	232336366	164	117757											
ROCK2	9475	broad.mit.edu	37	chr2	11356319	11356319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgctgttttttctaggcGagtattaacagatctaaaga	8	6	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:11356319G>A	uc002rbd.1	-	13	1875	c.1426C>T	c.(1426-1428)CGC>TGC	p.R476C		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	476	REM.|Potential.|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			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTTCTAGGCGAGTATTAACA	0.274													A	11356319	G	A	11356319	3	1	235	1	0	0	0	0	1	0	0	0	13518	1058	37	1	2824	1	ROCK2	2	11356319	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	493312	11356319	231843054	165	117758											
GREB1	9687	broad.mit.edu	37	chr2	11777862	11777862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgataactctgccgcGgtcgtgccggcccagtacat	12	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:11777862G>A	uc002rbk.1	+	31	5667	c.5367G>A	c.(5365-5367)GCG>GCA	p.A1789A	GREB1_uc002rbp.1_Silent_p.A787A	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1789						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTCTGCCGCGGTCGTGCCGG	0.667													A	11777862	G	A	11777862	2	1	235	1	0	0	0	0	0	0	0	1	6760	1103	39	1		1	GREB1	2	11777862	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	421543	11777862	231421511	166	117759											
NBAS	51594	broad.mit.edu	37	chr2	15534361	15534361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattactcacttccggccagTgtgcctcgtcaatctaacca	6	14	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:15534361T>C	uc002rcc.1	-	28	3273	c.3247A>G	c.(3247-3249)ACT>GCT	p.T1083A	NBAS_uc010exl.1_Missense_Mutation_p.T155A|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1083										ovary(2)|liver(1)|skin(1)	4						TTCCGGCCAGTGTGCCTCGTC	0.299													C	15534361	T	C	15534361	3	2	235	1	0	0	0	0	1	0	0	0	10186	1696	59	3	3968	3	NBAS	2	15534361	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3756499	15534361	227665012	167	117760											
NBAS	51594	broad.mit.edu	37	chr2	15676570	15676570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaacttctaagttctcctcGgtaattgatgaccaggagtt	9	8	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:15676570G>A	uc002rcc.1	-	8	645	c.619C>T	c.(619-621)CGA>TGA	p.R207*	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	207										ovary(2)|liver(1)|skin(1)	4						AGTTCTCCTCGGTAATTGATG	0.343													A	15676570	G	A	15676570	4	1	235	1	0	0	0	0	0	1	0	0	10186	1124	39	1	6676	1	NBAS	2	15676570	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	142209	15676570	227522803	168	117761											
OSR1	130497	broad.mit.edu	37	chr2	19553155	19553155	+	Frame_Shift_Del	DEL	C	C	-													tgcaggggagcctgggccctCcccgcgaccgagcttggccg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:19553155delC	uc002rdc.2	-	2	715	c.412delG	c.(412-414)GAGfs	p.E138fs		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	138					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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CCTGGGCCCTCCCCGCGACCG	0.632													-	19553155	C	-	19553155	7	5	235	1	0	1	0	1	0	0	0	0	11293	864	30	0	396	0	OSR1	2	19553155	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	3876585	19553155	223646218	169	117762											
ITSN2	50618	broad.mit.edu	37	chr2	24509095	24509096	+	Frame_Shift_Ins	INS	-	-	A													aatacctttagttgattgttINSaaaagaatccatttctgaca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:24509095_24509096insA	uc002rfe.2	-	16	2106_2107	c.1848_1849insT	c.(1846-1851)TTTAACfs	p.F616fs	ITSN2_uc002rff.2_Frame_Shift_Ins_p.F616fs|ITSN2_uc002rfg.2_Frame_Shift_Ins_p.F616fs|ITSN2_uc010eyd.2_Frame_Shift_Ins_p.F641fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	616_617	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGATTGTTAAAAGAATCCA	0.267													A	24509096	-	A	24509095	7	5	235	1	0	1	1	0	0	0	0	0	7927	1754	61	0	3395	0	ITSN2	2	24509095	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	4955940	24509095	218690278	170	117763	568	2									
ITSN2	50618	broad.mit.edu	37	chr2	24509096	24509097	+	Frame_Shift_Ins	INS	-	-	A													atacctttagttgattgttaINSaaagaatccatttctgacag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:24509095_24509096T>TA	uc002rfe.2	-	15	2106_2107	c.1848_1849A>TA	c.(1846-1851)tttaacfs	p.F616fs	ITSN2_uc002rff.2_Frame_Shift_Ins_p.F616fs|ITSN2_uc002rfg.3_Frame_Shift_Ins_p.F616fs|ITSN2_uc010eyd.2_Frame_Shift_Ins_p.F641fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	616					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			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)					AGTTGATTGTTAAAAGAATCCA	0.267													A	24509097	-	A	24509096	7	5	235	1	0	1	1	0	0	0	0	0	7927	359	13	0	3396	0	ITSN2	2	24509096	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	24509096	218690277	171	117764	568	2									
ADCY3	109	broad.mit.edu	37	chr2	25047345	25047345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcgcatctcatagacacGttccttctggtcgtggacct	10	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:25047345G>A	uc002rfs.3	-	16	2837	c.2638C>T	c.(2638-2640)CGT>TGT	p.R880C	ADCY3_uc002rfr.3_Missense_Mutation_p.R467C|ADCY3_uc010ykm.1_Missense_Mutation_p.R881C	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	880	Cytoplasmic (Potential).				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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATAGACACGTTCCTTCTGG	0.532													A	25047345	G	A	25047345	3	1	235	1	0	0	0	0	1	0	0	0	295	1145	40	1	820	1	ADCY3	2	25047345	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	538249	25047345	218152028	172	117765											
DNMT3A	1788	broad.mit.edu	37	chr2	25523110	25523110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctcctgctcctctccGtcctgcaggcacagacacag	9	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:25523110G>A	uc002rgc.2	-	3	332	c.75C>T	c.(73-75)GAC>GAT	p.D25D	DNMT3A_uc002rgd.2_Silent_p.D25D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Silent_p.D22D|DNMT3A_uc002rgf.2_Silent_p.D25D	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	25					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCTCTCCGTCCTGCAGGC	0.687			Mis|F|N|S		AML								A	25523110	G	A	25523110	2	1	235	1	0	0	0	0	0	0	0	1	4676	1136	40	1		1	DNMT3A	2	25523110	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	475765	25523110	217676263	173	117766											
EMILIN1	11117	broad.mit.edu	37	chr2	27306221	27306221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaagaggaactaggccgCcttcgggatggtgtggagcg	17	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27306221C>T	uc002rii.3	+	4	2210	c.1782C>T	c.(1780-1782)CGC>CGT	p.R594R	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	594	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTAGGCCGCCTTCGGGATG	0.701													T	27306221	C	T	27306221	2	4	235	1	0	0	0	0	0	0	0	1	5093	726	26	2		2	EMILIN1	2	27306221	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1783111	27306221	215893152	174	117767											
IFT172	26160	broad.mit.edu	37	chr2	27700448	27700448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcattttcaaagaaatacTtctcattgccaccagatcct	3	12	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27700448T>C	uc002rku.2	-	12	1250	c.1199A>G	c.(1198-1200)AAG>AGG	p.K400R	IFT172_uc002rkw.2_Missense_Mutation_p.K400R|IFT172_uc010yls.1_Missense_Mutation_p.K379R|IFT172_uc010ezc.2_Missense_Mutation_p.K400R|IFT172_uc002rkv.2_Missense_Mutation_p.K374R	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	400					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					AAAGAAATACTTCTCATTGCC	0.403													C	27700448	T	C	27700448	3	2	235	1	0	0	0	0	1	0	0	0	7557	1609	56	3	4198	3	IFT172	2	27700448	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	394227	27700448	215498925	175	117768											
CCDC121	79635	broad.mit.edu	37	chr2	27850362	27850362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcattgcctgcaacttcCgcttcaaactggattggata	7	13	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27850362C>T	uc002rle.2	-	2	486	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.R266Q|CCDC121_uc002rld.2_Missense_Mutation_p.R264Q|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	102											0	Acute lymphoblastic leukemia(172;0.155)					CTGCAACTTCCGCTTCAAACT	0.408													T	27850362	C	T	27850362	3	4	235	1	0	0	0	0	1	0	0	0	2757	652	23	1	535	1	CCDC121	2	27850362	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	149914	27850362	215349011	176	117769											
GPN1	11321	broad.mit.edu	37	chr2	27852006	27852006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgttggtgttgggaatGgcgggatccgggaaaaccac	16	7	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:27852006G>T	uc010ymc.1	+	1	144	c.123G>T	c.(121-123)ATG>ATT	p.M41I	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_5'Flank|CCDC121_uc002rld.2_5'Flank|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Intron|GPN1_uc010yma.1_Intron|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_5'UTR|GPN1_uc010yme.1_Missense_Mutation_p.M41I|GPN1_uc010ezg.1_5'Flank	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	27	GTP (Pootential).					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						TGTTGGGAATGGCGGGATCCG	0.632													T	27852006	G	T	27852006	3	4	235	1	0	0	0	0	1	0	0	0	6617	1348	47	5	136	5	GPN1	2	27852006	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1644	27852006	215347367	177	117770											
PLB1	151056	broad.mit.edu	37	chr2	28739709	28739709	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacctctcctagaaagagTacattggaagggcagctatg	10	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:28739709T>C	uc002rmb.1	+	2	90	c.90T>C	c.(88-90)AGT>AGC	p.S30S	PLB1_uc010ezj.1_Silent_p.S30S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	30	Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTAGAAAGAGTACATTGGAAG	0.478													C	28739709	T	C	28739709	2	2	235	1	0	0	0	0	0	0	0	1	12024	1635	57	3		3	PLB1	2	28739709	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	887703	28739709	214459664	178	117771											
XDH	7498	broad.mit.edu	37	chr2	31588866	31588866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagccagggccactgccGtggacaccacagtgctccgg	13	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:31588866G>A	uc002rnv.1	-	22	2511	c.2432C>T	c.(2431-2433)ACG>ATG	p.T811M		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	811					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	GGCCACTGCCGTGGACACCAC	0.537													A	31588866	G	A	31588866	3	1	235	1	0	0	0	0	1	0	0	0	17423	1145	40	1	1629	1	XDH	2	31588866	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2849157	31588866	211610507	179	117772											
BIRC6	57448	broad.mit.edu	37	chr2	32740783	32740783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgagaatgcaactgttgcGttctttctacagtgcatttc	8	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:32740783G>A	uc010ezu.2	+	55	11429	c.11295G>A	c.(11293-11295)GCG>GCA	p.A3765A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3765					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAACTGTTGCGTTCTTTCTAC	0.393													A	32740783	G	A	32740783	2	1	235	1	0	0	0	0	0	0	0	1	1438	1132	40	1		1	BIRC6	2	32740783	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1151917	32740783	210458590	180	117773											
HNRPLL	92906	broad.mit.edu	37	chr2	38800365	38800365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttaccttctcaatatttCcatataagcagaacaggttg	5	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:38800365C>T	uc002rqw.2	-	8	1489	c.1079G>A	c.(1078-1080)GGA>GAA	p.G360E	HNRPLL_uc002rqv.2_Missense_Mutation_p.G55E|HNRPLL_uc002rqx.2_Missense_Mutation_p.G355E	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	360	RRM 3.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			skin(1)	1		all_hematologic(82;0.248)				CTCAATATTTCCATATAAGCA	0.353													T	38800365	C	T	38800365	3	4	235	1	0	0	0	0	1	0	0	0	7277	855	30	4	573	4	HNRPLL	2	38800365	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6059582	38800365	204399008	181	117774											
SLC8A1	6546	broad.mit.edu	37	chr2	40366803	40366803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccccacattcatcgtcGtcatcatcttcccctagaga	4	16	5	1	rs139842575		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:40366803G>A	uc002rrx.2	-	9	2307	c.2283C>T	c.(2281-2283)GAC>GAT	p.D761D	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.D756D|SLC8A1_uc002rrz.2_Silent_p.D748D|SLC8A1_uc002rsa.2_Silent_p.D725D|SLC8A1_uc002rsd.3_Silent_p.D725D	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	761	Cytoplasmic (Potential).|Poly-Asp.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTCATCGTCGTCATCATCTT	0.502													A	40366803	G	A	40366803	2	1	235	1	0	0	0	0	0	0	0	1	14706	1136	40	1		1	SLC8A1	2	40366803	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1566438	40366803	202832570	182	117775											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					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)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	235	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-F1-6177-01A-11D-1800-08	4183750	44550553	198648820	183	117776											
TTC7A	57217	broad.mit.edu	37	chr2	47220638	47220638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaggtgctgcggactgtgGagaccaaagcaactcagaac	15	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:47220638G>A	uc002rvo.2	+	6	1182	c.814G>A	c.(814-816)GAG>AAG	p.E272K	TTC7A_uc002rvm.2_Missense_Mutation_p.E238K|TTC7A_uc002rvn.1_Missense_Mutation_p.E153K|TTC7A_uc010fbb.2_Missense_Mutation_p.E272K|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_Missense_Mutation_p.E153K|TTC7A_uc002rvq.2_Missense_Mutation_p.E12K|TTC7A_uc002rvr.2_5'Flank	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	272							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCGGACTGTGGAGACCAAAGC	0.532													A	47220638	G	A	47220638	3	1	235	1	0	0	0	0	1	0	0	0	16709	1175	41	4	836	4	TTC7A	2	47220638	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2670085	47220638	195978735	184	117777											
SPTBN1	6711	broad.mit.edu	37	chr2	54853348	54853348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaaatgctctacattAtggactggatggatgaaatg	11	6	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:54853348A>G	uc002rxu.2	+	12	1870	c.1621A>G	c.(1621-1623)ATG>GTG	p.M541V	SPTBN1_uc002rxv.1_Missense_Mutation_p.M541V|SPTBN1_uc002rxx.2_Missense_Mutation_p.M528V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	541	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GCTCTACATTATGGACTGGAT	0.512													G	54853348	A	G	54853348	3	3	235	1	0	0	0	0	1	0	0	0	15118	449	16	3	1776	3	SPTBN1	2	54853348	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	7632710	54853348	188346025	185	117778											
ALMS1	7840	broad.mit.edu	37	chr2	73650099	73650099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaactaagttttgcacctcTgaggtaggatgatttatttg	10	5	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:73650099T>C	uc002sje.1	+	5	875	c.764T>C	c.(763-765)CTG>CCG	p.L255P	ALMS1_uc002sjf.1_Missense_Mutation_p.L212P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	254					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTTGCACCTCTGAGGTAGGAT	0.393													C	73650099	T	C	73650099	3	2	235	1	0	0	0	0	1	0	0	0	535	1580	55	3	775	3	ALMS1	2	73650099	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	18796751	73650099	169549274	186	117779											
TET3	200424	broad.mit.edu	37	chr2	74329152	74329152	+	Frame_Shift_Del	DEL	G	G	-													ctacgggaagaagcgcaagtGggggggcactgtggttgctg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:74329152delG	uc002skb.3	+	9	4832	c.4832delG	c.(4831-4833)TGGfs	p.W1611fs		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1611							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AAGCGCAAGTGGGGGGGCACT	0.687													-	74329152	G	-	74329152	7	5	235	1	0	1	0	1	0	0	0	0	15768	1357	47	0	4866	0	TET3	2	74329152	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	679053	74329152	168870221	187	117780											
SLC4A5	57835	broad.mit.edu	37	chr2	74460640	74460640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgggtatacccaccaCgggttcttcccaaagggggc	12	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:74460640C>T	uc002sko.1	-	18	2486	c.2484G>A	c.(2482-2484)CCG>CCA	p.P828P	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.P828P|SLC4A5_uc010ffc.1_Silent_p.P828P|SLC4A5_uc002skp.1_Silent_p.P726P|SLC4A5_uc002sks.1_Silent_p.P790P	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	828	Helical; (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						ATACCCACCACGGGTTCTTCC	0.607													T	74460640	C	T	74460640	2	4	235	1	0	0	0	0	0	0	0	1	14657	523	19	1		1	SLC4A5	2	74460640	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	131488	74460640	168738733	188	117781											
WBP1	23559	broad.mit.edu	37	chr2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C													tcaccgcccaggcacaccacINScccccccttatactgtggcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584													C	74687411	-	C	74687410	7	5	235	1	0	1	1	0	0	0	0	0	17254	507	18	0	426	0	WBP1	2	74687410	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	226770	74687410	168511963	189	117782											
AUP1	550	broad.mit.edu	37	chr2	74755023	74755023	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctttcctccctctcctcCtaagcagggaccccgcctcc	6	20	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:74755023C>A	uc002sme.2	-	1	277	c.-120G>T	c.(-122--118)TAGGA>TATGA		DQX1_uc010yrw.1_5'Flank|AUP1_uc002smf.2_Intron|AUP1_uc002smg.2_Intron|AUP1_uc002smh.2_Intron|AUP1_uc010yrx.1_Intron|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens AUP1 homolog mRNA, complete cds.							endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						CCCTCTCCTCCTAAGCAGGGA	0.572													A	74755023	C	A	74755023	1	1	235	1	0	0	0	0	0	0	0	0	1220	696	24	5		5	AUP1	2	74755023	Translation_Start_Site	SNP	C	TCGA-F1-6177-01A-11D-1800-08	67613	74755023	168444350	190	117783											
TCF7L1	83439	broad.mit.edu	37	chr2	85536360	85536360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagaaacccgggcccaGctggctctccactctgccgc	9	18	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:85536360G>T	uc002soy.2	+	12	1616	c.1542G>T	c.(1540-1542)CAG>CAT	p.Q514H		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	514					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						CCCGGGCCCAGCTGGCTCTCC	0.687													T	85536360	G	T	85536360	3	4	235	1	0	0	0	0	1	0	0	0	15694	962	34	5	1588	5	TCF7L1	2	85536360	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10781337	85536360	157663013	191	117784											
EIF2AK3	9451	broad.mit.edu	37	chr2	88876178	88876178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggtgttcaagcttggCtaaggctttaacttctcgca	11	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:88876178C>T	uc002stc.3	-	12	2132	c.1930G>A	c.(1930-1932)GCC>ACC	p.A644T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	644	Cytoplasmic (Potential).|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						TCAAGCTTGGCTAAGGCTTTA	0.338													T	88876178	C	T	88876178	3	4	235	1	0	0	0	0	1	0	0	0	4998	797	28	2	1444	2	EIF2AK3	2	88876178	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3339818	88876178	154323195	192	117785											
DUSP2	1844	broad.mit.edu	37	chr2	96809731	96809731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagagcgcgagatacccGcctggcagtgcaccagcacc	13	15	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:96809731G>A	uc002svk.3	-	4	862	c.776C>T	c.(775-777)GCG>GTG	p.A259V		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	259	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				CGAGATACCCGCCTGGCAGTG	0.632													A	96809731	G	A	96809731	3	1	235	1	0	0	0	0	1	0	0	0	4819	1087	38	1	172	1	DUSP2	2	96809731	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7933553	96809731	146389642	193	117786											
SNRNP200	23020	broad.mit.edu	37	chr2	96945252	96945252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaaagggcggttggcGtggcccaccatctgaagcac	13	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:96945252G>A	uc002svu.2	-	36	5156	c.5070C>T	c.(5068-5070)CAC>CAT	p.H1690H	SNRNP200_uc002svt.2_Silent_p.H300H|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1690	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GGCGGTTGGCGTGGCCCACCA	0.552													A	96945252	G	A	96945252	2	1	235	1	0	0	0	0	0	0	0	1	14852	1136	40	1		1	SNRNP200	2	96945252	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	135521	96945252	146254121	194	117787											
VWA3B	200403	broad.mit.edu	37	chr2	98928382	98928382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgagagaagcccaggaggAaaaagaggcccgccaagcag	15	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:98928382A>G	uc002syo.2	+	27	3886	c.3622A>G	c.(3622-3624)AAA>GAA	p.K1208E	VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.K865E|VWA3B_uc002syp.1_Missense_Mutation_p.K600E|VWA3B_uc002syq.1_Missense_Mutation_p.K484E|VWA3B_uc002syr.1_Missense_Mutation_p.K525E|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1208										ovary(3)|large_intestine(2)|skin(1)	6						GCCCAGGAGGAAAAAGAGGCC	0.627													G	98928382	A	G	98928382	3	3	235	1	0	0	0	0	1	0	0	0	17238	247	9	3	3724	3	VWA3B	2	98928382	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1983130	98928382	144270991	195	117788											
CNGA3	1261	broad.mit.edu	37	chr2	98994192	98994192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgtcagtgctgcagccGgggatcgccatggagaccag	14	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:98994192G>A	uc002syt.2	+	3	561	c.144G>A	c.(142-144)CCG>CCA	p.P48P	CNGA3_uc002syu.2_Silent_p.P48P|CNGA3_uc010fij.2_5'UTR	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	48			P -> L.		signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						TGCTGCAGCCGGGGATCGCCA	0.582													A	98994192	G	A	98994192	2	1	235	1	0	0	0	0	0	0	0	1	3598	1103	39	1		1	CNGA3	2	98994192	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	65810	98994192	144205181	196	117789											
AFF3	3899	broad.mit.edu	37	chr2	100623849	100623849	+	Frame_Shift_Del	DEL	A	A	-													tctgattggatctatcagttAaaaagtctttcatttcatca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:100623849delA	uc002tag.2	-	5	484	c.248delT	c.(247-249)TTAfs	p.L83fs	AFF3_uc002taf.2_Frame_Shift_Del_p.L108fs|AFF3_uc010fiq.1_Frame_Shift_Del_p.L83fs|AFF3_uc010yvr.1_Frame_Shift_Del_p.L237fs|AFF3_uc002tah.1_Frame_Shift_Del_p.L108fs|AFF3_uc010fir.1_Frame_Shift_Del_p.L160fs|AFF3_uc002tai.2_Frame_Shift_Del_p.L5fs	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	83					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TCTATCAGTTAAAAAGTCTTT	0.423													-	100623849	A	-	100623849	7	5	235	1	0	1	0	1	0	0	0	0	358	372	13	0	3512	0	AFF3	2	100623849	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1629657	100623849	142575524	197	117790											
GPR45	11250	broad.mit.edu	37	chr2	105858894	105858894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagctccccgctgaccgCgcctacgtggtcaccttggt	12	16	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:105858894C>T	uc002tco.1	+	1	695	c.579C>T	c.(577-579)CGC>CGT	p.R193R		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	193	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CCGCTGACCGCGCCTACGTGG	0.687													T	105858894	C	T	105858894	2	4	235	1	0	0	0	0	0	0	0	1	6696	755	27	1		1	GPR45	2	105858894	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5235045	105858894	137340479	198	117791											
RANBP2	5903	broad.mit.edu	37	chr2	109382397	109382397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagttcttccttaaaatGtgtggcttgtgatgcctcta	10	7	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:109382397G>A	uc002tem.3	+	20	5528	c.5402G>A	c.(5401-5403)TGT>TAT	p.C1801Y		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1801	RanBP2-type 8.				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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TCCTTAAAATGTGTGGCTTGT	0.428													A	109382397	G	A	109382397	3	1	235	1	0	0	0	0	1	0	0	0	13028	1377	48	4	5480	4	RANBP2	2	109382397	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3523503	109382397	133816976	199	117792											
ANAPC1	64682	broad.mit.edu	37	chr2	112614258	112614259	+	Splice_Site	INS	-	-	T													cagcatggtgtctattttctINSaaaaaaacaaaaaagacaaa					rs4067742		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					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						TGTCTATTTTCTAAAAAAACAA	0.361													T	112614259	-	T	112614258	8	5	235	1	0	1	1	0	0	0	1	0	598	1536	53	0	4530	0	ANAPC1	2	112614258	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	3231861	112614258	130585115	200	117793											
PSD4	23550	broad.mit.edu	37	chr2	113943688	113943688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtcttcactcttggagaCggatggggaacagccaagtt	12	9	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:113943688C>T	uc002tjc.2	+	5	1667	c.1484C>T	c.(1483-1485)ACG>ATG	p.T495M	PSD4_uc002tjd.2_Missense_Mutation_p.T116M|PSD4_uc002tje.2_Missense_Mutation_p.T466M|PSD4_uc002tjf.2_Missense_Mutation_p.T116M	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	495					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTCTTGGAGACGGATGGGGAA	0.562													T	113943688	C	T	113943688	3	4	235	1	0	0	0	0	1	0	0	0	12649	536	19	1	1498	1	PSD4	2	113943688	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1329430	113943688	129255685	201	117794											
PAX8	7849	broad.mit.edu	37	chr2	114002038	114002038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacactgggcacagtgtcatTgtcacagacgccctcagcca	10	14	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:114002038T>C	uc010yxt.1	-	4	521	c.355A>G	c.(355-357)AAT>GAT	p.N119D	PAX8_uc010yxu.1_Missense_Mutation_p.N119D|PAX8_uc010yxv.1_Missense_Mutation_p.N119D|PAX8_uc002tjm.2_Missense_Mutation_p.N119D|PAX8_uc002tjn.2_Missense_Mutation_p.N119D|PAX8_uc010fku.1_Missense_Mutation_p.N119D|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	119	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			ovary(1)|lung(1)	2						ACAGTGTCATTGTCACAGACG	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis 						C	114002038	T	C	114002038	3	2	235	1	0	0	0	0	1	0	0	0	11485	1812	63	3	908	3	PAX8	2	114002038	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	58350	114002038	129197335	202	117795											
DPP10	57628	broad.mit.edu	37	chr2	116534869	116534869	+	Frame_Shift_Del	DEL	A	A	-													ggcatacgatgaaactactcAaaaaatgtgagtgttttcag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:116534869delA	uc002tla.1	+	14	1764	c.1307delA	c.(1306-1308)CAAfs	p.Q436fs	DPP10_uc002tlb.1_Frame_Shift_Del_p.Q386fs|DPP10_uc002tlc.1_Frame_Shift_Del_p.Q432fs|DPP10_uc002tle.2_Frame_Shift_Del_p.Q440fs|DPP10_uc002tlf.1_Frame_Shift_Del_p.Q429fs	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	436	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GAAACTACTCAAAAAATGTGA	0.383													-	116534869	A	-	116534869	7	5	235	1	0	1	0	1	0	0	0	0	4727	130	5	0	1532	0	DPP10	2	116534869	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	2532831	116534869	126664504	203	117796											
STEAP3	55240	broad.mit.edu	37	chr2	120020712	120020712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgcgccttcgaggagaGccgctacaagttctacctgc	11	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:120020712G>A	uc002tlp.2	+	6	1422	c.1265G>A	c.(1264-1266)AGC>AAC	p.S422N	STEAP3_uc002tlq.2_Missense_Mutation_p.S432N|STEAP3_uc002tlr.2_Missense_Mutation_p.S422N|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	422	Vesicular (Potential).				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			central_nervous_system(2)|skin(1)	3						TTCGAGGAGAGCCGCTACAAG	0.617													A	120020712	G	A	120020712	3	1	235	1	0	0	0	0	1	0	0	0	15278	971	34	2	1313	2	STEAP3	2	120020712	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3485843	120020712	123178661	204	117797											
INHBB	3625	broad.mit.edu	37	chr2	121104166	121104166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgccagcccgggcgcCgacggccaggagcgcgtttc	16	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:121104166C>T	uc002tmn.2	+	1	448	c.402C>T	c.(400-402)GCC>GCT	p.A134A		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	134					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			pancreas(2)|skin(1)	3		Prostate(154;0.122)				GCCCGGGCGCCGACGGCCAGG	0.741													T	121104166	C	T	121104166	2	4	235	1	0	0	0	0	0	0	0	1	7742	639	23	1		1	INHBB	2	121104166	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1083454	121104166	122095207	205	117798											
INHBB	3625	broad.mit.edu	37	chr2	121107004	121107004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgccaggagctggccGtggtgccggtgttcgtggac	17	11	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:121107004G>A	uc002tmn.2	+	2	824	c.778G>A	c.(778-780)GTG>ATG	p.V260M		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	260					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			pancreas(2)|skin(1)	3		Prostate(154;0.122)				GGAGCTGGCCGTGGTGCCGGT	0.662													A	121107004	G	A	121107004	3	1	235	1	0	0	0	0	1	0	0	0	7742	1145	40	1	784	1	INHBB	2	121107004	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2838	121107004	122092369	206	117799											
GLI2	2736	broad.mit.edu	37	chr2	121742146	121742146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggcccagatgcccacGtcaccaagaagcagcgcaat	9	16	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:121742146G>A	uc010flp.2	+	11	1813	c.1783G>A	c.(1783-1785)GTC>ATC	p.V595I	GLI2_uc002tmq.1_Missense_Mutation_p.V267I|GLI2_uc002tmr.1_Missense_Mutation_p.V250I|GLI2_uc002tmt.3_Missense_Mutation_p.V267I|GLI2_uc002tmu.3_Missense_Mutation_p.V250I|GLI2_uc002tmw.1_Missense_Mutation_p.V578I	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	595					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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AGATGCCCACGTCACCAAGAA	0.607													A	121742146	G	A	121742146	3	1	235	1	0	0	0	0	1	0	0	0	6438	1145	40	1	1825	1	GLI2	2	121742146	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	635142	121742146	121457227	207	117800											
WDR33	55339	broad.mit.edu	37	chr2	128477624	128477624	+	Frame_Shift_Del	DEL	G	G	-													caacccctggggcgggccctGgggcccctgtggtcccatga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:128477624delG	uc002tpg.1	-	16	2158	c.1975delC	c.(1975-1977)CAGfs	p.Q659fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	659	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGCGGGCCCTGGGGCCCCTGT	0.652													-	128477624	G	-	128477624	7	5	235	1	0	1	0	1	0	0	0	0	17284	1357	47	0	2063	0	WDR33	2	128477624	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	6735478	128477624	114721749	208	117801											
CCDC74B	91409	broad.mit.edu	37	chr2	130899770	130899770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgtctgcaggagagcgCacagtgtcggcgctaccgcc	15	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:130899770C>T	uc002tqm.1	-	3	542	c.480G>A	c.(478-480)GTG>GTA	p.V160V	CCDC74B_uc010yzw.1_Silent_p.V262V|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	160											0	Colorectal(110;0.1)					CAGGAGAGCGCACAGTGTCGG	0.632													T	130899770	C	T	130899770	2	4	235	1	0	0	0	0	0	0	0	1	2848	697	25	2		2	CCDC74B	2	130899770	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2422146	130899770	112299603	209	117802											
FAM123C	205147	broad.mit.edu	37	chr2	131520215	131520215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctccccaggggacccGtcagaccctggggggcggcg	16	17	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:131520215G>A	uc002trw.2	+	2	760	c.570G>A	c.(568-570)CCG>CCA	p.P190P	FAM123C_uc010fmv.2_Silent_p.P190P|FAM123C_uc010fms.1_Silent_p.P190P|FAM123C_uc010fmt.1_Silent_p.P190P|FAM123C_uc010fmu.1_Silent_p.P190P	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	190										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGGGGACCCGTCAGACCCTG	0.662													A	131520215	G	A	131520215	2	1	235	1	0	0	0	0	0	0	0	1	5424	1132	40	1		1	FAM123C	2	131520215	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	620445	131520215	111679158	210	117803											
ARHGEF4	50649	broad.mit.edu	37	chr2	131803619	131803619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgttcagctgttggcCggccctgctacctgacgcgc	11	17	1	1	rs146423704	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:131803619C>T	uc002tsa.1	+	14	2450	c.1930C>T	c.(1930-1932)CGG>TGG	p.R644W	ARHGEF4_uc010fmw.1_Missense_Mutation_p.R792W|ARHGEF4_uc002tsb.1_3'UTR|ARHGEF4_uc010fmx.1_Missense_Mutation_p.R584W|ARHGEF4_uc002tsc.1_Missense_Mutation_p.R187W	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	644					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			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCTGTTGGCCGGCCCTGCTA	0.687													T	131803619	C	T	131803619	3	4	235	1	0	0	0	0	1	0	0	0	908	643	23	1	2068	1	ARHGEF4	2	131803619	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	283404	131803619	111395754	211	117804											
CCDC74A	90557	broad.mit.edu	37	chr2	132288336	132288336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtagcgccgacactgtGcgctctcctgcagacagcct	13	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:132288336G>A	uc002tta.2	+	3	532	c.480G>A	c.(478-480)GTG>GTA	p.V160V	CCDC74A_uc002ttb.2_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	160										skin(1)	1						CCGACACTGTGCGCTCTCCTG	0.632													A	132288336	G	A	132288336	2	1	235	1	0	0	0	0	0	0	0	1	2847	1306	46	2		2	CCDC74A	2	132288336	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	484717	132288336	110911037	212	117805											
LCT	3938	broad.mit.edu	37	chr2	136561666	136561666	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcctacatcttggagCgtctgtggtaggtcccagtg	12	12	2	0	rs150796821		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:136561666C>A	uc002tuu.1	-	11	4508	c.4497G>T	c.(4495-4497)ACG>ACT	p.T1499T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1499	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCTTGGAGCGTCTGTGGTA	0.517													A	136561666	C	A	136561666	2	1	235	1	0	0	0	0	0	0	0	1	8693	755	27	5		5	LCT	2	136561666	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4273330	136561666	106637707	213	117806											
LRP1B	53353	broad.mit.edu	37	chr2	141208157	141208157	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacagtcatcaggttcatcaGatccatcaccacagtcatcc	6	14	6	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:141208157G>A	uc002tvj.1	-	63	11009	c.10037C>T	c.(10036-10038)TCT>TTT	p.S3346F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3346	Extracellular (Potential).|LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		AGGTTCATCAGATCCATCACC	0.348										TSP Lung(27;0.18)			A	141208157	G	A	141208157	3	1	235	1	0	0	0	0	1	0	0	0	8955	942	33	4	3878	4	LRP1B	2	141208157	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4646491	141208157	101991216	214	117807											
STAM2	10254	broad.mit.edu	37	chr2	152980308	152980308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtttgagcaggctgtgCtgtcactgaggaattcacat	12	7	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:152980308C>T	uc002tyc.3	-	13	1671	c.1321G>A	c.(1321-1323)GCA>ACA	p.A441T		NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	441					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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		GCAGGCTGTGCTGTCACTGAG	0.393													T	152980308	C	T	152980308	3	4	235	1	0	0	0	0	1	0	0	0	15248	797	28	2	264	2	STAM2	2	152980308	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	11772151	152980308	90219065	215	117808											
PRPF40A	55660	broad.mit.edu	37	chr2	153526848	153526849	+	Frame_Shift_Ins	INS	-	-	T													tagccatgttgtcaagtatgINSttttttaaggcttcccaatt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:153526848_153526849insT	uc002tyh.3	-	15	1548_1549	c.1526_1527insA	c.(1525-1527)AACfs	p.N509fs	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Frame_Shift_Ins_p.N456fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	536	FF 3.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						TGTCAAGTATGTTTTTTAAGGC	0.361													T	153526849	-	T	153526848	7	5	235	1	0	1	1	0	0	0	0	0	12571	1368	48	0	1313	0	PRPF40A	2	153526848	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	546540	153526848	89672525	216	117809	569	2									
PRPF40A	55660	broad.mit.edu	37	chr2	153526849	153526850	+	Frame_Shift_Ins	INS	-	-	T													agccatgttgtcaagtatgtINStttttaaggcttcccaattt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:153526848_153526849G>GT	uc002tyh.4	-	14	1548_1549	c.1526_1527C>AC	c.(1525-1527)aacfs	p.N509fs	PRPF40A_uc002tyg.4_5'Flank|PRPF40A_uc010zcd.1_Frame_Shift_Ins_p.N456fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	536	FF 2.				RNA splicing|mRNA processing	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						TGTCAAGTATGTTTTTTAAGGC	0.361													T	153526850	-	T	153526849	7	5	235	1	0	1	1	0	0	0	0	0	12571	1725	60	0	1314	0	PRPF40A	2	153526849	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	153526849	89672524	217	117810	569	2									
RPRM	56475	broad.mit.edu	37	chr2	154334995	154334995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggacgcctgggtgcagcAgcgcacggctcgctccagcg	15	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:154334995A>G	uc002tyq.1	-	1	328	c.85T>C	c.(85-87)TGC>CGC	p.C29R		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	29					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						TGGGTGCAGCAGCGCACGGCT	0.687													G	154334995	A	G	154334995	3	3	235	1	0	0	0	0	1	0	0	0	13618	188	7	3	248	3	RPRM	2	154334995	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	808146	154334995	88864378	218	117811											
TANC1	85461	broad.mit.edu	37	chr2	160053294	160053294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcggcggccagcatggGccacagctcggtgagtgggg	19	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:160053294G>A	uc002uag.2	+	18	3429	c.3155G>A	c.(3154-3156)GGC>GAC	p.G1052D	TANC1_uc010zcm.1_Missense_Mutation_p.G1044D|TANC1_uc010fom.1_Missense_Mutation_p.G858D|TANC1_uc010fon.2_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1052	ANK 5.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GCCAGCATGGGCCACAGCTCG	0.632													A	160053294	G	A	160053294	3	1	235	1	0	0	0	0	1	0	0	0	15541	1203	42	2	3217	2	TANC1	2	160053294	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5718299	160053294	83146079	219	117812											
IFIH1	64135	broad.mit.edu	37	chr2	163134716	163134717	+	Splice_Site	INS	-	-	T													ggtccaaacctaaattacctINStttttttccatttgaatggc					rs150760072		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:163134715_163134716C>CT	uc002uce.3	-	9	1987	c.1765_splice	c.e9+1	p.A589_splice		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	589					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						CCTAAATTACCTTTTTTTTCCA	0.327													T	163134717	-	T	163134716	8	5	235	1	0	1	1	0	0	0	1	0	7520	1623	56	0	1345	0	IFIH1	2	163134716	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	3081422	163134716	80064657	220	117813											
LRP2	4036	broad.mit.edu	37	chr2	169997025	169997026	+	Frame_Shift_Ins	INS	-	-	G													tccgtgcatgcacctgcatgINSgggggggcaggttgataggc					rs80338754		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:169997024_169997025T>TG	uc002ues.3	-	71	13352_13353	c.13139_13140A>CA	c.(13138-13140)ccafs	p.P4380fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4380	EGF-like 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	TGCACCTGCATGGGGGGGGCAG	0.535													G	169997026	-	G	169997025	7	5	235	1	0	1	1	0	0	0	0	0	8956	1348	47	0	860	0	LRP2	2	169997025	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	6862309	169997025	73202348	221	117814											
LRP2	4036	broad.mit.edu	37	chr2	170062048	170062048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagtcagcccactgggCatgaccagactgctgttcac	10	14	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:170062048C>T	uc002ues.2	-	41	7869	c.7656G>A	c.(7654-7656)ATG>ATA	p.M2552I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2552	LDL-receptor class B 27.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	GCCCACTGGGCATGACCAGAC	0.517													T	170062048	C	T	170062048	3	4	235	1	0	0	0	0	1	0	0	0	8956	710	25	2	6467	2	LRP2	2	170062048	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	65023	170062048	73137325	222	117815											
PPIG	9360	broad.mit.edu	37	chr2	170493803	170493803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagctcaaataacagcaggGaaaaaaaggctgatagagat	10	5	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:170493803G>A	uc002uez.2	+	14	2255	c.2035G>A	c.(2035-2037)GAA>AAA	p.E679K	PPIG_uc010fpx.2_Missense_Mutation_p.E664K|PPIG_uc010fpy.2_Missense_Mutation_p.E672K|PPIG_uc002ufb.2_Missense_Mutation_p.E679K|PPIG_uc002ufd.2_Missense_Mutation_p.E676K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	679					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	TAACAGCAGGGAAAAAAAGGC	0.353													A	170493803	G	A	170493803	3	1	235	1	0	0	0	0	1	0	0	0	12324	1175	41	4	2081	4	PPIG	2	170493803	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	431755	170493803	72705570	223	117816											
RAPGEF4	11069	broad.mit.edu	37	chr2	173782536	173782536	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttgtctttcagaaatatCgacagtatatggcaggactt	8	7	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:173782536C>T	uc002uhv.3	+	5	638	c.451C>T	c.(451-453)CGA>TGA	p.R151*	RAPGEF4_uc002uhu.2_Nonsense_Mutation_p.R151*|RAPGEF4_uc002uhw.3_Nonsense_Mutation_p.R7*|RAPGEF4_uc010zec.1_5'UTR|RAPGEF4_uc010zed.1_5'UTR|RAPGEF4_uc010zee.1_5'UTR|RAPGEF4_uc010fqo.2_5'UTR	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	151	cAMP 1.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAGAAATATCGACAGTATAT	0.358													T	173782536	C	T	173782536	4	4	235	1	0	0	0	0	0	1	0	0	13046	876	31	1	485	1	RAPGEF4	2	173782536	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3288733	173782536	69416837	224	117817											
EVX2	344191	broad.mit.edu	37	chr2	176948108	176948108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttccttaagctgagcggCgccgaggcccccgggggagc	16	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:176948108C>T	uc010zeu.1	-	1	583	c.397G>A	c.(397-399)GCC>ACC	p.A133T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	133						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCTGAGCGGCGCCGAGGCCC	0.682													T	176948108	C	T	176948108	3	4	235	1	0	0	0	0	1	0	0	0	5295	768	27	1	1043	1	EVX2	2	176948108	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3165572	176948108	66251265	225	117818											
HOXD9	3235	broad.mit.edu	37	chr2	176987697	176987697	+	Frame_Shift_Del	DEL	T	T	-													gccgagttcgcctcgtgtagTtttgcccccagatcggccgt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:176987697delT	uc010zex.1	+	1	285	c.201delT	c.(199-201)AGTfs	p.S67fs		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	67						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCGTGTAGTTTTGCCCCCA	0.751													-	176987697	T	-	176987697	7	5	235	1	0	1	0	1	0	0	0	0	7326	1722	60	0	203	0	HOXD9	2	176987697	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	39589	176987697	66211676	226	117819											
TTN	7273	broad.mit.edu	37	chr2	179393909	179393909	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaatttcagaagtcttTtgtgtagagactttctgtgc	11	5	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179393909T>C	uc010zfg.1	-	309	99089	c.98865A>G	c.(98863-98865)CAA>CAG	p.Q32955Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q26650Q|TTN_uc010zfi.1_Silent_p.Q26583Q|TTN_uc010zfj.1_Silent_p.Q26458Q|TTN_uc002umq.2_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33882							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAAGTCTTTTGTGTAGAGA	0.373													C	179393909	T	C	179393909	2	2	235	1	0	0	0	0	0	0	0	1	16732	1838	64	3		3	TTN	2	179393909	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	2406212	179393909	63805464	227	117820											
TTN	7273	broad.mit.edu	37	chr2	179437710	179437710	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggccagtgatagtataCgaagttgccttgagtcctgc	13	8	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179437710C>T	uc010zfg.1	-	275	65669	c.65445G>A	c.(65443-65445)TCG>TCA	p.S21815S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S15510S|TTN_uc010zfi.1_Silent_p.S15443S|TTN_uc010zfj.1_Silent_p.S15318S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22742							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATAGTATACGAAGTTGCCT	0.483													T	179437710	C	T	179437710	2	4	235	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179437710	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	43801	179437710	63761663	228	117821											
TTN	7273	broad.mit.edu	37	chr2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcactagcttcattgatcGtaagcaatgccacagaatta	7	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179585746G>A	uc010zfg.1	-	76	19492	c.19268C>T	c.(19267-19269)ACG>ATG	p.T6423M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3084M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7350							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTGATCGTAAGCAATGC	0.453													A	179585746	G	A	179585746	3	1	235	1	0	0	0	0	1	0	0	0	16732	1145	40	1	81665	1	TTN	2	179585746	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	148036	179585746	63613627	229	117822											
TTN	7273	broad.mit.edu	37	chr2	179590725	179590725	+	Frame_Shift_Del	DEL	T	T	-													attcaagactgacttcagcaTttttaagggtttctactata							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179590724_179590724AT>A	uc021vsy.1	-	66	16818	c.16593_16593AT>T	c.(16591-16593)aatfs	p.N5531fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.N2192fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6458	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTTCAGCATTTTTAAGGG	0.408													-	179590725	T	-	179590725	7	5	235	1	0	1	0	1	0	0	0	0	16732	1493	52	0	84377	0	TTN	2	179590725	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	4979	179590725	63608648	230	117823											
TTN	7273	broad.mit.edu	37	chr2	179647124	179647124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtgaggctagtatcAgtcataaccacatctcttga	7	11	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179647124A>G	uc010zfg.1	-	20	3419	c.3195T>C	c.(3193-3195)ACT>ACC	p.T1065T	TTN_uc010zfh.1_Silent_p.T1019T|TTN_uc010zfi.1_Silent_p.T1019T|TTN_uc010zfj.1_Silent_p.T1019T|TTN_uc002unb.2_Silent_p.T1065T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1065							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTAGTATCAGTCATAACCA	0.493													G	179647124	A	G	179647124	2	3	235	1	0	0	0	0	0	0	0	1	16732	175	7	3		3	TTN	2	179647124	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	56399	179647124	63552249	231	117824											
CCDC141	285025	broad.mit.edu	37	chr2	179736188	179736188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatgtcattccatttttgtCgtagatctaaaatgaactgg	7	7	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:179736188C>T	uc002unf.1	-	4	503	c.446G>A	c.(445-447)CGA>CAA	p.R149Q		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	149							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTTTTGTCGTAGATCTAA	0.393													T	179736188	C	T	179736188	3	4	235	1	0	0	0	0	1	0	0	0	2775	884	31	1	2221	1	CCDC141	2	179736188	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	89064	179736188	63463185	232	117825											
NCKAP1	10787	broad.mit.edu	37	chr2	183790471	183790471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtagacagcatggtAtgcatttctcagcaagacat	9	7	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:183790471A>G	uc002upc.2	-	31	3748	c.3346T>C	c.(3346-3348)TAC>CAC	p.Y1116H	NCKAP1_uc002upb.2_Missense_Mutation_p.Y1122H	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	1116					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACAGCATGGTATGCATTTCTC	0.338													G	183790471	A	G	183790471	3	3	235	1	0	0	0	0	1	0	0	0	10221	449	16	3	44	3	NCKAP1	2	183790471	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	4054283	183790471	59408902	233	117826											
KCTD18	130535	broad.mit.edu	37	chr2	201363678	201363678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaatagcgtctgttccatCagtttttgtggcatatacac	7	9	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:201363678C>T	uc002uvs.2	-	4	1019	c.502G>A	c.(502-504)GAT>AAT	p.D168N	KCTD18_uc002uvt.2_Missense_Mutation_p.D168N|KCTD18_uc002uvu.1_Missense_Mutation_p.D168N	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	168						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						TCTGTTCCATCAGTTTTTGTG	0.368													T	201363678	C	T	201363678	3	4	235	1	0	0	0	0	1	0	0	0	8105	826	29	4	794	4	KCTD18	2	201363678	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	17573207	201363678	41835695	234	117827											
TRAK2	66008	broad.mit.edu	37	chr2	202254126	202254126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgatgacacttgaacGgttggagcctggaatgggta	14	6	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:202254126G>A	uc002uyb.3	-	12	1740	c.1294C>T	c.(1294-1296)CGT>TGT	p.R432C		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	432	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0						ACACTTGAACGGTTGGAGCCT	0.517													A	202254126	G	A	202254126	3	1	235	1	0	0	0	0	1	0	0	0	16447	1116	39	1	1470	1	TRAK2	2	202254126	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	890448	202254126	40945247	235	117828											
ALS2	57679	broad.mit.edu	37	chr2	202609120	202609120	+	Frame_Shift_Del	DEL	T	T	-													accaaggctaaatagctatcTtttcctgctgtcactctgct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:202609119_202609119CT>C	uc002uyo.3	-	9	2388	c.2032_2032AG>G	c.(2032-2034)gatfs	p.D678fs	ALS2_uc002uyp.4_Frame_Shift_Del_p.D678fs|ALS2_uc002uyq.3_Frame_Shift_Del_p.D678fs|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	678					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator 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						AAATAGCTATCTTTTCCTGCT	0.328													-	202609120	T	-	202609120	7	5	235	1	0	1	0	1	0	0	0	0	550	1606	56	0	3042	0	ALS2	2	202609120	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	354994	202609120	40590253	236	117829											
NOP58	51602	broad.mit.edu	37	chr2	203165008	203165009	+	Frame_Shift_Ins	INS	-	-	A													ccacacttccaacctgttctINSaaaaaacgcaaaatagaaca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:203165008_203165009insA	uc002uzb.2	+	13	1470_1471	c.1320_1321insA	c.(1318-1323)TCTAAAfs	p.S440fs		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	440_441	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				0						CAACCTGTTCTAAAAAACGCAA	0.327													A	203165009	-	A	203165008	7	5	235	1	0	1	1	0	0	0	0	0	10540	1509	53	0	1370	0	NOP58	2	203165008	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	555888	203165008	40034365	237	117830	570	2									
NOP58	51602	broad.mit.edu	37	chr2	203165009	203165010	+	Frame_Shift_Ins	INS	-	-	A													cacacttccaacctgttctaINSaaaaacgcaaaatagaacag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:203165008_203165009T>TA	uc002uzb.3	+	12	1470_1471	c.1320_1321T>TA	c.(1318-1323)tctaaafs	p.S440fs		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	440					cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CAACCTGTTCTAAAAAACGCAA	0.327													A	203165010	-	A	203165009	7	5	235	1	0	1	1	0	0	0	0	0	10540	363	13	0	1371	0	NOP58	2	203165009	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	203165009	40034364	238	117831	570	2									
MAP2	4133	broad.mit.edu	37	chr2	210559607	210559607	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcactgatgataaagttCgaagagatttggccacagac	11	7	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:210559607C>T	uc002vde.1	+	7	2961	c.2713C>T	c.(2713-2715)CGA>TGA	p.R905*	MAP2_uc002vdc.1_Nonsense_Mutation_p.R905*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.R901*	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	905					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	TGATAAAGTTCGAAGAGATTT	0.453													T	210559607	C	T	210559607	4	4	235	1	0	0	0	0	0	1	0	0	9235	876	31	1	2727	1	MAP2	2	210559607	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7394598	210559607	32639766	239	117832											
ATIC	471	broad.mit.edu	37	chr2	216214278	216214278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggtgtggcgtacattgCggctccctccggttctgctg	15	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:216214278C>T	uc002vex.3	+	16	1853	c.1679C>T	c.(1678-1680)GCG>GTG	p.A560V	ATIC_uc010zjo.1_Missense_Mutation_p.A501V|ATIC_uc002vey.3_Missense_Mutation_p.A559V	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	560					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		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)	GCGTACATTGCGGCTCCCTCC	0.473			T	ALK	ALCL								T	216214278	C	T	216214278	3	4	235	1	0	0	0	0	1	0	0	0	1105	768	27	1	1741	1	ATIC	2	216214278	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5654671	216214278	26985095	240	117833											
CXCR1	3577	broad.mit.edu	37	chr2	219028909	219028909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagagacattgacagaCgaagaagtgtaggaggtaac	14	4	0	4	rs144791200	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:219028909C>T	uc002vhc.2	-	2	1145	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	342	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						CATTGACAGACGAAGAAGTGT	0.468													T	219028909	C	T	219028909	2	4	235	1	0	0	0	0	0	0	0	1	4090	523	19	1		1	CXCR1	2	219028909	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2814631	219028909	24170464	241	117834											
ZNF142	7701	broad.mit.edu	37	chr2	219508172	219508172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagtgaaacttgccctGctcaaagcggtgcttcttca	10	11	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:219508172G>A	uc002vin.2	-	8	3503	c.3067C>T	c.(3067-3069)CAG>TAG	p.Q1023*	ZNF142_uc002vil.2_Nonsense_Mutation_p.Q984*|ZNF142_uc010fvt.2_Nonsense_Mutation_p.Q860*|ZNF142_uc002vim.2_Nonsense_Mutation_p.Q860*	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1023					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		AACTTGCCCTGCTCAAAGCGG	0.612													A	219508172	G	A	219508172	4	1	235	1	0	0	0	0	0	1	0	0	17728	1328	46	2	2008	2	ZNF142	2	219508172	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	479263	219508172	23691201	242	117835											
GMPPA	29926	broad.mit.edu	37	chr2	220367131	220367131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcaatccctcaactacGgctgcatcgttgagaatcca	9	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:220367131G>A	uc002vlr.2	+	6	525	c.457G>A	c.(457-459)GGC>AGC	p.G153S	GMPPA_uc002vls.2_Missense_Mutation_p.G153S|GMPPA_uc002vlt.2_Missense_Mutation_p.G153S|GMPPA_uc002vlu.2_Missense_Mutation_p.G153S|GMPPA_uc002vlv.2_Missense_Mutation_p.G153S|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.G153S	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	153					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCTCAACTACGGCTGCATCGT	0.562													A	220367131	G	A	220367131	3	1	235	1	0	0	0	0	1	0	0	0	6494	1116	39	1	475	1	GMPPA	2	220367131	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	858959	220367131	22832242	243	117836											
SLC4A3	6508	broad.mit.edu	37	chr2	220502391	220502391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctggagccaaatggcaGtgccctgccccccaccgagg	13	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:220502391G>A	uc002vmp.3	+	17	2893	c.2624G>A	c.(2623-2625)AGT>AAT	p.S875N	SLC4A3_uc002vmo.3_Missense_Mutation_p.S902N|SLC4A3_uc010fwm.2_Missense_Mutation_p.S425N|SLC4A3_uc010fwn.1_Missense_Mutation_p.S384N	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	875	Membrane (anion exchange).			S -> C (in Ref. 2; AAB05850).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		CCAAATGGCAGTGCCCTGCCC	0.642													A	220502391	G	A	220502391	3	1	235	1	0	0	0	0	1	0	0	0	14655	1029	36	4	2767	4	SLC4A3	2	220502391	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	135260	220502391	22696982	244	117837											
GPR55	9290	broad.mit.edu	37	chr2	231775182	231775182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttgtggaagcacatgtAtttttccactttcccatgga	8	9	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:231775182A>G	uc002vrg.2	-	2	689	c.496T>C	c.(496-498)TAC>CAC	p.Y166H	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.Y166H	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	166	Extracellular (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AAGCACATGTATTTTTCCACT	0.537													G	231775182	A	G	231775182	3	3	235	1	0	0	0	0	1	0	0	0	6699	449	16	3	467	3	GPR55	2	231775182	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	11272791	231775182	11424191	245	117838											
NEU2	4759	broad.mit.edu	37	chr2	233898912	233898912	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgtatgacgcgcagacgggGaccctcttcctcttcttcat	9	13	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:233898912G>T	uc010zmn.1	+	2	288	c.288G>T	c.(286-288)GGG>GGT	p.G96G		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	96							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGCAGACGGGGACCCTCTTCC	0.627													T	233898912	G	T	233898912	2	4	235	1	0	0	0	0	0	0	0	1	10342	1161	41	5		5	NEU2	2	233898912	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2123730	233898912	9300461	246	117839											
HDAC4	9759	broad.mit.edu	37	chr2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-													aagtactcagcgtctcccatGggggggtccaggccgccggt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:240002822_240002822TG>T	uc002vyk.4	-	21	3496	c.2704_2704CA>A	c.(2704-2706)atgfs	p.M902fs	HDAC4_uc010fyy.3_Frame_Shift_Del_p.M859fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	902	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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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)		GCGTCTCCCATGGGGGGGTCC	0.597													-	240002823	G	-	240002823	7	5	235	1	0	1	0	1	0	0	0	0	7009	1335	47	0	575	0	HDAC4	2	240002823	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	6103911	240002823	3196550	247	117840											
ANKMY1	51281	broad.mit.edu	37	chr2	241492466	241492466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccggtaaaactgcccAtggtatgactgtgagatgga	13	8	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr2:241492466A>G	uc002vyz.1	-	3	307	c.78T>C	c.(76-78)CAT>CAC	p.H26H	ANKMY1_uc002vza.1_Silent_p.H115H|ANKMY1_uc010fzd.1_Silent_p.H115H|ANKMY1_uc002vzb.1_Silent_p.H115H|ANKMY1_uc002vzc.1_Silent_p.H115H|ANKMY1_uc002vzd.1_Silent_p.H115H|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Silent_p.H17H|ANKMY1_uc002vzf.2_Silent_p.H17H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	26	MORN 2.						zinc ion binding			central_nervous_system(1)	1		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)		AAAACTGCCCATGGTATGACT	0.552													G	241492466	A	G	241492466	2	3	235	1	0	0	0	0	0	0	0	1	634	214	8	3		3	ANKMY1	2	241492466	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1489643	241492466	1706907	248	117841											
ITPR1	3708	broad.mit.edu	37	chr3	4829715	4829715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccaaggagtcaaaactaCgaatttactatactacagag	6	8	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:4829715C>T	uc003bqa.2	+	49	6904	c.6556C>T	c.(6556-6558)CGA>TGA	p.R2186*	ITPR1_uc010hca.1_Nonsense_Mutation_p.R2171*|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Nonsense_Mutation_p.R1156*	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2234	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTCAAAACTACGAATTTACTA	0.398													T	4829715	C	T	4829715	4	4	235	1	0	0	0	0	0	1	0	0	7920	528	19	1	6898	1	ITPR1	3	4829715	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		4829715	193192715	249	117842											
SRGAP3	9901	broad.mit.edu	37	chr3	9027584	9027584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgagttcccgcaactcGtgcagagccgtgctcatggt	11	14	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9027584G>A	uc003brf.1	-	22	3595	c.2919C>T	c.(2917-2919)CAC>CAT	p.H973H	SRGAP3_uc003brg.1_Silent_p.H949H	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	973	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCCGCAACTCGTGCAGAGCCG	0.622			T	RAF1	pilocytic astrocytoma								A	9027584	G	A	9027584	2	1	235	1	0	0	0	0	0	0	0	1	15146	1136	40	1		1	SRGAP3	3	9027584	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4197869	9027584	188994846	250	117843											
SRGAP3	9901	broad.mit.edu	37	chr3	9074429	9074430	+	Frame_Shift_Ins	INS	-	-	G													tgtggtttagggggaagacaINSggggggcctaggggaaaacg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9074429_9074430insG	uc003brf.1	-	12	2119_2120	c.1443_1444insC	c.(1441-1446)CCCTGTfs	p.P481fs	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	481_482	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGGGGAAGACAGGGGGGCCTAG	0.441			T	RAF1	pilocytic astrocytoma								G	9074430	-	G	9074429	7	5	235	1	0	1	1	0	0	0	0	0	15146	188	7	0	1934	0	SRGAP3	3	9074429	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	46845	9074429	188948001	251	117844	571	2									
SRGAP3	9901	broad.mit.edu	37	chr3	9074430	9074431	+	Frame_Shift_Ins	INS	-	-	G													gtggtttagggggaagacagINSgggggcctaggggaaaacgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9074429_9074430A>AG	uc003brf.1	-	11	2119_2120	c.1443_1444T>CT	c.(1441-1446)ccctgtfs	p.P481fs	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	481					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)		GGGGGAAGACAGGGGGGCCTAG	0.441			T	RAF1	pilocytic astrocytoma								G	9074431	-	G	9074430	7	5	235	1	0	1	1	0	0	0	0	0	15146	987	35	0	1935	0	SRGAP3	3	9074430	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	9074430	188948000	252	117845	571	2									
SRGAP3	9901	broad.mit.edu	37	chr3	9094775	9094775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatgttgatcttgctcAtgtaggtctcagaggcagcc	12	9	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9094775A>G	uc003brf.1	-	9	1935	c.1259T>C	c.(1258-1260)ATG>ACG	p.M420T	SRGAP3_uc003brg.1_Missense_Mutation_p.M420T|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Missense_Mutation_p.M280T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	420					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATCTTGCTCATGTAGGTCTC	0.502			T	RAF1	pilocytic astrocytoma								G	9094775	A	G	9094775	3	3	235	1	0	0	0	0	1	0	0	0	15146	217	8	3	2131	3	SRGAP3	3	9094775	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	20345	9094775	188927655	253	117846											
IL17RC	84818	broad.mit.edu	37	chr3	9972608	9972608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgacttgggagcgctatgGgcctgccccatggacaaatg	14	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:9972608G>T	uc003bua.2	+	16	1817	c.1581G>T	c.(1579-1581)TGG>TGT	p.W527C	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Missense_Mutation_p.W456C|IL17RC_uc011atp.1_Missense_Mutation_p.W295C|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.W441C|IL17RC_uc010hct.2_Missense_Mutation_p.W456C|IL17RC_uc010hcu.2_Missense_Mutation_p.W439C|IL17RC_uc010hcv.2_Missense_Mutation_p.W424C|IL17RC_uc011atq.1_Missense_Mutation_p.W441C|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_Missense_Mutation_p.W92C|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	527	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GAGCGCTATGGGCCTGCCCCA	0.517													T	9972608	G	T	9972608	3	4	235	1	0	0	0	0	1	0	0	0	7641	1241	43	5	1643	5	IL17RC	3	9972608	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	877833	9972608	188049822	254	117847											
SEC13	6396	broad.mit.edu	37	chr3	10357042	10357042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatctgccctccattgcGcacatcaaagattttgacgg	9	11	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:10357042G>A	uc003bvn.2	-	3	246	c.127C>T	c.(127-129)CGC>TGC	p.R43C	SEC13_uc003bvl.2_5'Flank|SEC13_uc003bvm.2_Missense_Mutation_p.R29C|SEC13_uc003bvp.2_Missense_Mutation_p.R46C|SEC13_uc003bvo.2_Missense_Mutation_p.R89C|SEC13_uc003bvq.1_Missense_Mutation_p.R29C|SEC13_uc003bvr.1_Missense_Mutation_p.R29C|SEC13_uc011aul.1_Missense_Mutation_p.R43C	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	43	WD 1.				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)		ovary(1)	1						CCTCCATTGCGCACATCAAAG	0.597													A	10357042	G	A	10357042	3	1	235	1	0	0	0	0	1	0	0	0	13980	1087	38	1	869	1	SEC13	3	10357042	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	384434	10357042	187665388	255	117848											
SLC6A11	6538	broad.mit.edu	37	chr3	10861469	10861469	+	Frame_Shift_Del	DEL	T	T	-													catcatcctggcatgggccaTtttttacctgagcaactgct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:10861469delT	uc003bvz.2	+	3	498	c.464delT	c.(463-465)ATTfs	p.I155fs	SLC6A11_uc003bvy.1_Frame_Shift_Del_p.I155fs	NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	155	Extracellular (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCATGGGCCATTTTTTACCTG	0.507													-	10861469	T	-	10861469	7	5	235	1	0	1	0	1	0	0	0	0	14674	1493	52	0	474	0	SLC6A11	3	10861469	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	504427	10861469	187160961	256	117849											
IQSEC1	9922	broad.mit.edu	37	chr3	12949857	12949857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagctcttaccggcttccGagaggtcccgcagggagctg	13	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:12949857G>A	uc003bxt.2	-	12	2798	c.2789C>T	c.(2788-2790)TCG>TTG	p.S930L	IQSEC1_uc003bxu.3_Missense_Mutation_p.S808L|IQSEC1_uc011auw.1_Missense_Mutation_p.S916L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	930					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						ACCGGCTTCCGAGAGGTCCCG	0.662													A	12949857	G	A	12949857	3	1	235	1	0	0	0	0	1	0	0	0	7817	1059	37	1	659	1	IQSEC1	3	12949857	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2088388	12949857	185072573	257	117850											
FBLN2	2199	broad.mit.edu	37	chr3	13672308	13672308	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgaggatgggcacacCtgcacaggtacctctcccct	11	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:13672308C>A	uc011avb.1	+	14	3062	c.2937C>A	c.(2935-2937)ACC>ACA	p.T979T	FBLN2_uc011auz.1_Silent_p.T1005T|FBLN2_uc011ava.1_Silent_p.T1026T|FBLN2_uc011avc.1_Silent_p.T1026T	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	979	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATGGGCACACCTGCACAGGTA	0.597													A	13672308	C	A	13672308	2	1	235	1	0	0	0	0	0	0	0	1	5699	668	24	5		5	FBLN2	3	13672308	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	722451	13672308	184350122	258	117851											
FGD5	152273	broad.mit.edu	37	chr3	14861889	14861889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgggagtgggcctgccCggtcaggcggcccctggaga	19	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:14861889C>T	uc003bzc.2	+	1	1421	c.1311C>T	c.(1309-1311)CCC>CCT	p.P437P	FGD5_uc011avk.1_Silent_p.P437P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	437					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			ovary(3)|kidney(1)|pancreas(1)	5						TGGGCCTGCCCGGTCAGGCGG	0.652													T	14861889	C	T	14861889	2	4	235	1	0	0	0	0	0	0	0	1	5836	639	23	1		1	FGD5	3	14861889	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1189581	14861889	183160541	259	117852											
FGD5	152273	broad.mit.edu	37	chr3	14905734	14905734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctcggaggaggaggaCagtgcttcaagagaccccag	15	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:14905734C>T	uc003bzc.2	+	2	2735	c.2625C>T	c.(2623-2625)GAC>GAT	p.D875D	FGD5_uc011avk.1_Silent_p.D875D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	875					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			ovary(3)|kidney(1)|pancreas(1)	5						AGGAGGAGGACAGTGCTTCAA	0.592													T	14905734	C	T	14905734	2	4	235	1	0	0	0	0	0	0	0	1	5836	477	17	4		4	FGD5	3	14905734	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	43845	14905734	183116696	260	117853											
METTL6	131965	broad.mit.edu	37	chr3	15455535	15455535	+	Frame_Shift_Del	DEL	A	A	-													ccattcatcttaccatcagtAaaaaaatatgatctggtccc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:15455535delA	uc003bzs.1	-	5	924	c.666delT	c.(664-666)TTTfs	p.F222fs	METTL6_uc011avp.1_Frame_Shift_Del_p.F177fs|METTL6_uc010hen.1_Frame_Shift_Del_p.F26fs	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	methyltransferase like 6	222							methyltransferase activity				0						TACCATCAGTAAAAAAATATG	0.363													-	15455535	A	-	15455535	7	5	235	1	0	1	0	1	0	0	0	0	9504	359	13	0	196	0	METTL6	3	15455535	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	549801	15455535	182566895	261	117854											
STT3B	201595	broad.mit.edu	37	chr3	31674521	31674521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttggaagaagcctttaCatcagaacactggcttgtta	8	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:31674521C>T	uc011axe.1	+	15	2282	c.2282C>T	c.(2281-2283)ACA>ATA	p.T761I		NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	761					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						GAAGCCTTTACATCAGAACAC	0.398													T	31674521	C	T	31674521	3	4	235	1	0	0	0	0	1	0	0	0	15333	478	17	4	2340	4	STT3B	3	31674521	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	16218986	31674521	166347909	262	117855											
TRIM71	131405	broad.mit.edu	37	chr3	32859730	32859730	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgggggccctggggcggcggCgcgccgcctacacgtcctgc	18	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:32859730C>G	uc003cff.2	+	1	221	c.158C>G	c.(157-159)GCG>GGG	p.A53G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	53	RING-type.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						ggggcggcggcgcgccgccTA	0.473													G	32859730	C	G	32859730	3	3	235	1	0	0	0	0	1	0	0	0	16541	768	27	5	160	5	TRIM71	3	32859730	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1185209	32859730	165162700	263	117856											
TRIM71	131405	broad.mit.edu	37	chr3	32932608	32932608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttcaagccctgcggcGccttccaccacaaattcggc	10	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:32932608G>A	uc003cff.2	+	4	1975	c.1912G>A	c.(1912-1914)GCC>ACC	p.A638T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	638					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCCCTGCGGCGCCTTCCACCA	0.647													A	32932608	G	A	32932608	3	1	235	1	0	0	0	0	1	0	0	0	16541	1087	38	1	1926	1	TRIM71	3	32932608	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	72878	32932608	165089822	264	117857											
DLEC1	9940	broad.mit.edu	37	chr3	38101313	38101313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccagaagattactacaccGatacagtgccgtttcactct	6	14	2	2	rs149190717	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:38101313G>A	uc003cho.1	+	3	664	c.643G>A	c.(643-645)GAT>AAT	p.D215N	DLEC1_uc003chp.1_Missense_Mutation_p.D215N|DLEC1_uc010hgv.1_Missense_Mutation_p.D215N|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	215					negative regulation of cell proliferation	cytoplasm		p.D215N(1)		ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTACTACACCGATACAGTGCC	0.493													A	38101313	G	A	38101313	3	1	235	1	0	0	0	0	1	0	0	0	4552	1058	37	1	653	1	DLEC1	3	38101313	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5168705	38101313	159921117	265	117858											
MYRIP	25924	broad.mit.edu	37	chr3	40251426	40251426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacaccacagaggagaaaCggagaaacaggctgtacgag	13	9	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:40251426C>T	uc003cka.2	+	11	1882	c.1747C>T	c.(1747-1749)CGG>TGG	p.R583W	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.R583W|MYRIP_uc010hhw.2_Missense_Mutation_p.R494W|MYRIP_uc011ayz.1_Missense_Mutation_p.R396W|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	583	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGGAGAAACGGAGAAACAG	0.478													T	40251426	C	T	40251426	3	4	235	1	0	0	0	0	1	0	0	0	10100	527	19	1	1785	1	MYRIP	3	40251426	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2150113	40251426	157771004	266	117859											
CDCP1	64866	broad.mit.edu	37	chr3	45132849	45132849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggatgatcatgaatgcGcgccctgtctggcagaccac	11	13	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:45132849G>A	uc003com.2	-	7	1944	c.1809C>T	c.(1807-1809)CGC>CGT	p.R603R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	603	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCATGAATGCGCGCCCTGTCT	0.607													A	45132849	G	A	45132849	2	1	235	1	0	0	0	0	0	0	0	1	3093	1074	38	1		1	CDCP1	3	45132849	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4881423	45132849	152889581	267	117860											
XCR1	2829	broad.mit.edu	37	chr3	46063062	46063062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactaccgacaggtagcgGtggatggtcatgatggtcag	14	9	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:46063062G>A	uc003cpe.2	-	3	602	c.378C>T	c.(376-378)CAC>CAT	p.H126H	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.H126H	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	126	Cytoplasmic (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGGTAGCGGTGGATGGTCA	0.602													A	46063062	G	A	46063062	2	1	235	1	0	0	0	0	0	0	0	1	17422	1252	44	4		4	XCR1	3	46063062	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	930213	46063062	151959368	268	117861											
PRSS45	377047	broad.mit.edu	37	chr3	46786212	46786212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgctcattttccatccGgaggctcacctcccagggcc	9	17	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:46786212G>A	uc010hjl.2	-	1	34	c.34C>T	c.(34-36)CGG>TGG	p.R12W	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	12	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						TTTTCCATCCGGAGGCTCACC	0.602													A	46786212	G	A	46786212	3	1	235	1	0	0	0	0	1	0	0	0	12629	1115	39	1	668	1	PRSS45	3	46786212	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	723150	46786212	151236218	269	117862											
SETD2	29072	broad.mit.edu	37	chr3	47103754	47103755	+	Frame_Shift_Ins	INS	-	-	TC													tttgagtttgcttgtctgggINStctctctctcttgacctatt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47103754_47103755insTC	uc003cqs.2	-	14	6244_6245	c.6191_6192insGA	c.(6190-6192)GACfs	p.D2064fs	SETD2_uc003cqv.2_Frame_Shift_Ins_p.D2131fs|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2064					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		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)		GCTTGTCTGGGTCTCTCTCTCT	0.485			N|F|S|Mis		clear cell renal carcinoma								TC	47103755	-	TC	47103754	7	5	235	1	0	1	1	0	0	0	0	0	14131	1252	44	0	1534	0	SETD2	3	47103754	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	317542	47103754	150918676	270	117863	572	2									
SETD2	29072	broad.mit.edu	37	chr3	47103755	47103756	+	Frame_Shift_Ins	INS	-	-	TC													ttgagtttgcttgtctgggtINSctctctctcttgacctatta							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47103754_47103755G>GTC	uc003cqv.3	-	14	6478_6479	c.6392_6393C>GAC	c.(6391-6393)gacfs	p.D2131fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.D2064fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2064					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)		GCTTGTCTGGGTCTCTCTCTCT	0.485			"N, F, S, Mis"		clear cell renal carcinoma								TC	47103756	-	TC	47103755	7	5	235	1	0	1	1	0	0	0	0	0	14131	1667	58	0	1535	0	SETD2	3	47103755	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	47103755	150918675	271	117864	572	2									
SMARCC1	6599	broad.mit.edu	37	chr3	47677558	47677559	+	Frame_Shift_Ins	INS	-	-	T													tatcctgttccttttcactaINStttttttcattttctccatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47677558_47677559insT	uc003crq.2	-	23	2562_2563	c.2444_2445insA	c.(2443-2445)AATfs	p.N815fs	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Frame_Shift_Ins_p.N706fs	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	815	Glu-rich.				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			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCTTTTCACTATTTTTTTCATT	0.356													T	47677559	-	T	47677558	7	5	235	1	0	1	1	0	0	0	0	0	14775	446	16	0	896	0	SMARCC1	3	47677558	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	573803	47677558	150344872	272	117865	573	2									
SMARCC1	6599	broad.mit.edu	37	chr3	47677559	47677560	+	Frame_Shift_Ins	INS	-	-	T													atcctgttccttttcactatINSttttttcattttctccatct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47677558_47677559A>AT	uc003crq.2	-	22	2562_2563	c.2444_2445T>AT	c.(2443-2445)aatfs	p.N815fs	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Frame_Shift_Ins_p.N706fs	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	815	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	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)		CCTTTTCACTATTTTTTTCATT	0.356													T	47677560	-	T	47677559	7	5	235	1	0	1	1	0	0	0	0	0	14775	1493	52	0	897	0	SMARCC1	3	47677559	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	47677559	150344871	273	117866	573	2									
SMARCC1	6599	broad.mit.edu	37	chr3	47779562	47779562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataaacatttccacattaCgatccattcgagatgggttc	6	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:47779562C>T	uc003crq.2	-	4	558	c.440G>A	c.(439-441)CGT>CAT	p.R147H	SMARCC1_uc011bbd.1_Missense_Mutation_p.R38H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	147					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			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCCACATTACGATCCATTCG	0.323													T	47779562	C	T	47779562	3	4	235	1	0	0	0	0	1	0	0	0	14775	536	19	1	2977	1	SMARCC1	3	47779562	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	102003	47779562	150242868	274	117867											
PLXNB1	5364	broad.mit.edu	37	chr3	48459679	48459679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggtcacacaacgtggaCgctccccctcacaccacaca	7	20	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48459679C>T	uc003csw.2	-	15	3413	c.3143G>A	c.(3142-3144)CGT>CAT	p.R1048H	PLXNB1_uc003csu.2_Missense_Mutation_p.R865H|PLXNB1_uc003csx.2_Missense_Mutation_p.R1048H|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1048	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAACGTGGACGCTCCCCCTC	0.627													T	48459679	C	T	48459679	3	4	235	1	0	0	0	0	1	0	0	0	12123	536	19	1	3360	1	PLXNB1	3	48459679	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	680117	48459679	149562751	275	117868											
CELSR3	1951	broad.mit.edu	37	chr3	48686617	48686617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgggctccagccaaccCtgggcctcatcacacagccg	11	17	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48686617C>A	uc003cul.2	-	17	6785	c.6504G>T	c.(6502-6504)CAG>CAT	p.Q2168H	CELSR3_uc003cuf.1_Missense_Mutation_p.Q2238H|CELSR3_uc010hkg.2_Missense_Mutation_p.Q151H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2168	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGCCAACCCTGGGCCTCAT	0.612													A	48686617	C	A	48686617	3	1	235	1	0	0	0	0	1	0	0	0	3223	680	24	5	3510	5	CELSR3	3	48686617	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	226938	48686617	149335813	276	117869											
CELSR3	1951	broad.mit.edu	37	chr3	48699637	48699637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgcaaaggtcctgtcCgcccgcaagaggagacctct	10	14	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48699637C>T	uc003cul.2	-	1	712	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	CELSR3_uc003cuf.1_Missense_Mutation_p.R214Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	144	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTCCTGTCCGCCCGCAAGA	0.607													T	48699637	C	T	48699637	3	4	235	1	0	0	0	0	1	0	0	0	3223	652	23	1	9647	1	CELSR3	3	48699637	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	13020	48699637	149322793	277	117870											
SLC25A20	788	broad.mit.edu	37	chr3	48897000	48897000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcacctctttccctccGgagtgaagatatttttcagc	6	13	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:48897000G>A	uc003cva.3	-	6	771	c.596C>T	c.(595-597)CCG>CTG	p.P199L	SLC25A20_uc011bbw.1_Missense_Mutation_p.P149L|SLC25A20_uc010hkj.2_Missense_Mutation_p.P126L	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	199	Cytoplasmic (Potential).				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTTTCCCTCCGGAGTGAAGAT	0.418													A	48897000	G	A	48897000	3	1	235	1	0	0	0	0	1	0	0	0	14483	1116	39	1	325	1	SLC25A20	3	48897000	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	197363	48897000	149125430	278	117871											
BSN	8927	broad.mit.edu	37	chr3	49698234	49698234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagttgggtatcacacaaCgcaaagagtctttggccaaa	11	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:49698234C>T	uc003cxe.3	+	6	9070	c.8956C>T	c.(8956-8958)CGC>TGC	p.R2986C		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2986					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TATCACACAACGCAAAGAGTC	0.557													T	49698234	C	T	49698234	3	4	235	1	0	0	0	0	1	0	0	0	1530	536	19	1	8978	1	BSN	3	49698234	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	801234	49698234	148324196	279	117872											
IP6K1	9807	broad.mit.edu	37	chr3	49785304	49785304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggagggactcgtaaaagCgctgttcccgggagatgagg	18	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:49785304C>T	uc003cxm.1	-	2	485	c.170G>A	c.(169-171)CGC>CAC	p.R57H	IP6K1_uc003cxn.1_Intron|IP6K1_uc011bcv.1_Intron|IP6K1_uc003cxo.2_Missense_Mutation_p.R57H	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	57					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						CTCGTAAAAGCGCTGTTCCCG	0.542													T	49785304	C	T	49785304	3	4	235	1	0	0	0	0	1	0	0	0	7788	768	27	1	1175	1	IP6K1	3	49785304	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	87070	49785304	148237126	280	117873											
RBM6	10180	broad.mit.edu	37	chr3	50095229	50095230	+	Frame_Shift_Ins	INS	-	-	A													atccataccagcaccattggINSaaaaacagcccaaccagccc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:50095229_50095230insA	uc003cyc.2	+	9	1895_1896	c.1762_1763insA	c.(1762-1764)GAAfs	p.E588fs	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Frame_Shift_Ins_p.E107fs|RBM6_uc003cyd.2_Frame_Shift_Ins_p.E66fs|RBM6_uc003cye.2_Frame_Shift_Ins_p.E66fs|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	588					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGCACCATTGGAAAAACAGCCC	0.465													A	50095230	-	A	50095229	7	5	235	1	0	1	1	0	0	0	0	0	13144	1175	41	0	1792	0	RBM6	3	50095229	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	309925	50095229	147927201	281	117874	574	2									
RBM6	10180	broad.mit.edu	37	chr3	50095230	50095231	+	Frame_Shift_Ins	INS	-	-	A													tccataccagcaccattggaINSaaaacagcccaaccagcccc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:50095229_50095230G>GA	uc003cyc.3	+	8	2010_2011	c.1762_1763G>GA	c.(1762-1764)gaafs	p.E588fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Frame_Shift_Ins_p.E107fs|RBM6_uc003cyd.3_Frame_Shift_Ins_p.E66fs|RBM6_uc011bdi.2_5'UTR|RBM6_uc003cye.3_Frame_Shift_Ins_p.E66fs|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	588					RNA processing	nucleus	DNA binding|RNA binding|nucleotide 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)		AGCACCATTGGAAAAACAGCCC	0.465													A	50095231	-	A	50095230	7	5	235	1	0	1	1	0	0	0	0	0	13144	246	9	0	1793	0	RBM6	3	50095230	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	50095230	147927200	282	117875	574	2									
DOCK3	1795	broad.mit.edu	37	chr3	51308421	51308421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggacagtggatagccGcctgttttctttctcaggta	11	10	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:51308421G>A	uc011bds.1	+	24	2554	c.2531G>A	c.(2530-2532)CGC>CAC	p.R844H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	844						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTGGATAGCCGCCTGTTTTCT	0.522													A	51308421	G	A	51308421	3	1	235	1	0	0	0	0	1	0	0	0	4688	1087	38	1	2625	1	DOCK3	3	51308421	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1213191	51308421	146714009	283	117876											
IQCF1	132141	broad.mit.edu	37	chr3	51929286	51929286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgcaccagggtgccccGccaccaggcctggatcttgg	13	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:51929286G>A	uc003dbv.2	-	4	336	c.238C>T	c.(238-240)CGG>TGG	p.R80W	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	80	IQ 1.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGGTGCCCCGCCACCAGGCC	0.542													A	51929286	G	A	51929286	3	1	235	1	0	0	0	0	1	0	0	0	7807	1086	38	1	383	1	IQCF1	3	51929286	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	620865	51929286	146093144	284	117877											
ALAS1	211	broad.mit.edu	37	chr3	52233439	52233439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaacagatcaaagaaaCccctccggccagtgagagta	8	13	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:52233439C>A	uc003dcy.1	+	3	519	c.182C>A	c.(181-183)ACC>AAC	p.T61N	ALAS1_uc003dcx.1_Missense_Mutation_p.T61N|ALAS1_uc003dcz.1_Missense_Mutation_p.T61N|ALAS1_uc011bec.1_Missense_Mutation_p.T78N	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	61					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				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)	ATCAAAGAAACCCCTCCGGCC	0.522													A	52233439	C	A	52233439	3	1	235	1	0	0	0	0	1	0	0	0	484	507	18	5	184	5	ALAS1	3	52233439	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	304153	52233439	145788991	285	117878											
RFT1	91869	broad.mit.edu	37	chr3	53126488	53126488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggctccttcggtagtagCggtggatgaagcaaaggctc	17	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:53126488C>T	uc003dgj.2	-	12	1409	c.1355G>A	c.(1354-1356)CGC>CAC	p.R452H	RFT1_uc003dgk.2_Missense_Mutation_p.R413H	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	452					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				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)		TCGGTAGTAGCGGTGGATGAA	0.587													T	53126488	C	T	53126488	3	4	235	1	0	0	0	0	1	0	0	0	13257	768	27	1	278	1	RFT1	3	53126488	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	893049	53126488	144895942	286	117879											
CHDH	55349	broad.mit.edu	37	chr3	53856562	53856562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactccacgcccactgcacGggtgccctcaaatagcaccc	7	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:53856562G>A	uc003dgz.2	-	4	1251	c.811C>T	c.(811-813)CGT>TGT	p.R271C		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	271					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCCACTGCACGGGTGCCCTCA	0.647													A	53856562	G	A	53856562	3	1	235	1	0	0	0	0	1	0	0	0	3333	1116	39	1	997	1	CHDH	3	53856562	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	730074	53856562	144165868	287	117880											
CACNA2D3	55799	broad.mit.edu	37	chr3	54914835	54914835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagtttaggtgtggcGctttccagaggtcatgggaa	14	8	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:54914835G>A	uc003dhf.2	+	21	1905	c.1857G>A	c.(1855-1857)GCG>GCA	p.A619A	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.A525A|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.A353A|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	619	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAGGTGTGGCGCTTTCCAGAG	0.433													A	54914835	G	A	54914835	2	1	235	1	0	0	0	0	0	0	0	1	2550	1074	38	1		1	CACNA2D3	3	54914835	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1058273	54914835	143107595	288	117881											
CCDC66	285331	broad.mit.edu	37	chr3	56651196	56651197	+	Frame_Shift_Del	DEL	GA	GA	-													cacattgtggatcattaatgGagagggacatcacaaattgt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:56651196_56651197delGA	uc003dhz.2	+	14	1987_1988	c.1900_1901delGA	c.(1900-1902)GAGfs	p.E634fs	CCDC66_uc003dhy.2_Frame_Shift_Del_p.E270fs|CCDC66_uc003dhu.2_Frame_Shift_Del_p.E600fs|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Frame_Shift_Del_p.E2fs	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	634										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATCATTAATGGAGAGGGACATC	0.312													-	56651197	GA	-	56651196	7	5	235	1	0	1	0	1	0	0	0	0	2838	1175	41	0	1954	0	CCDC66	3	56651196	Frame_Shift_Del	DEL	GA	TCGA-F1-6177-01A-11D-1800-08	1736361	56651196	141371234	289	117882											
ARHGEF3	50650	broad.mit.edu	37	chr3	56771219	56771219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaactacttaccacgccCcgattgttcttcagttcacc	6	14	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:56771219C>T	uc003dig.2	-	8	1204	c.1035G>A	c.(1033-1035)CGG>CGA	p.R345R	ARHGEF3_uc011bew.1_Silent_p.R345R|ARHGEF3_uc003dih.2_Silent_p.R377R|ARHGEF3_uc011bev.1_Silent_p.R316R|ARHGEF3_uc003dif.2_Silent_p.R351R|ARHGEF3_uc010hmy.1_Silent_p.R143R|ARHGEF3_uc003dii.2_Silent_p.R345R	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	345	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			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTACCACGCCCCGATTGTTCT	0.458													T	56771219	C	T	56771219	2	4	235	1	0	0	0	0	0	0	0	1	904	610	22	4		4	ARHGEF3	3	56771219	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	120023	56771219	141251211	290	117883											
ATXN7	6314	broad.mit.edu	37	chr3	63938114	63938114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctacttggtggtgtgtaacGactgtaatcaggttgtcaaa	11	6	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:63938114G>A	uc003dlw.3	+	5	1007	c.454G>A	c.(454-456)GAC>AAC	p.D152N	ATXN7_uc003dlv.2_Missense_Mutation_p.D152N|ATXN7_uc010hnv.2_Missense_Mutation_p.D152N	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	152					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				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTGTGTAACGACTGTAATCA	0.388													A	63938114	G	A	63938114	3	1	235	1	0	0	0	0	1	0	0	0	1215	1058	37	1	464	1	ATXN7	3	63938114	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7166895	63938114	134084316	291	117884											
MAGI1	9223	broad.mit.edu	37	chr3	65342797	65342797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggggccgtggcggtcGctgctggggtctgccaggaa	21	10	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:65342797G>A	uc003dmn.2	-	23	4171	c.3645C>T	c.(3643-3645)AGC>AGT	p.S1215S	MAGI1_uc003dmm.2_Missense_Mutation_p.A1273V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1244					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		CGTGGCGGTCGCTGCTGGGGT	0.642													A	65342797	G	A	65342797	2	1	235	1	0	0	0	0	0	0	0	1	9190	1087	38	1		1	MAGI1	3	65342797	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1404683	65342797	132679633	292	117885											
SUCLG2	8801	broad.mit.edu	37	chr3	67570954	67570955	+	Frame_Shift_Ins	INS	-	-	C													ccacctcttcaatgtcgacgINScccccctgggggctgcccac					rs61756471	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:67570954_67570955insC	uc003dna.3	-	5	549_550	c.521_522insG	c.(520-522)GGCfs	p.G174fs	SUCLG2_uc010hob.2_Frame_Shift_Ins_p.G55fs	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	174	ATP-grasp.			GV -> RS (in Ref. 2; AAC64397).	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		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)	CAATGTCGACGCCCCCCTGGGG	0.505													C	67570955	-	C	67570954	7	5	235	1	0	1	1	0	0	0	0	0	15364	1074	38	0	948	0	SUCLG2	3	67570954	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2228157	67570954	130451476	293	117886	575	2									
SUCLG2	8801	broad.mit.edu	37	chr3	67570955	67570956	+	Frame_Shift_Ins	INS	-	-	C													cacctcttcaatgtcgacgcINSccccctgggggctgcccacc					rs61756471	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:67570954_67570955G>GC	uc021xae.1	-	4	549_550	c.521_522C>GC	c.(520-522)ggcfs	p.G174fs	SUCLG2_uc010hob.3_Frame_Shift_Ins_p.G55fs|SUCLG2_uc003dna.4_Frame_Shift_Ins_p.G174fs	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174	ATP-grasp.			GV -> RS (in Ref. 2; AAC64397).	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			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)	CAATGTCGACGCCCCCCTGGGG	0.505													C	67570956	-	C	67570955	7	5	235	1	0	1	1	0	0	0	0	0	15364	739	26	0	949	0	SUCLG2	3	67570955	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	67570955	130451475	294	117887	575	2									
GPR27	2850	broad.mit.edu	37	chr3	71803976	71803976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcgcttgtgggcatccGgcccgcagggccgggccgcg	18	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:71803976G>A	uc011bge.1	+	1	776	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	259	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GTGGGCATccggcccgcaggg	0.572													A	71803976	G	A	71803976	3	1	235	1	0	0	0	0	1	0	0	0	6685	1116	39	1	778	1	GPR27	3	71803976	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4233021	71803976	126218454	295	117888											
ROBO2	6092	broad.mit.edu	37	chr3	77614178	77614178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatactgtaagaggactgCggcccaatacaatctactta	7	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:77614178C>T	uc003dpy.3	+	12	2399	c.1756C>T	c.(1756-1758)CGG>TGG	p.R586W	ROBO2_uc003dpz.2_Missense_Mutation_p.R590W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R590W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	586	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		AAGAGGACTGCGGCCCAATAC	0.483													T	77614178	C	T	77614178	3	4	235	1	0	0	0	0	1	0	0	0	13514	759	27	1	1804	1	ROBO2	3	77614178	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5810202	77614178	120408252	296	117889											
ROBO1	6091	broad.mit.edu	37	chr3	78717036	78717036	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaatcaatatttaccttGtgttttcactggatctgata	6	6	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:78717036G>A	uc003dqe.2	-	14	2171	c.1963C>T	c.(1963-1965)CAA>TAA	p.Q655*	ROBO1_uc003dqb.2_Nonsense_Mutation_p.Q616*|ROBO1_uc003dqc.2_Nonsense_Mutation_p.Q619*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.Q619*|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Nonsense_Mutation_p.Q227*|ROBO1_uc003dqf.1_Nonsense_Mutation_p.Q334*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	655	Extracellular (Potential).				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			large_intestine(2)	2		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)		TATTTACCTTGTGTTTTCACT	0.353													A	78717036	G	A	78717036	4	1	235	1	0	0	0	0	0	1	0	0	13513	1386	48	4	3064	4	ROBO1	3	78717036	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1102858	78717036	119305394	297	117890											
GABRR3	200959	broad.mit.edu	37	chr3	97731224	97731224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttccatcagggtgtacgCgcagcatgatattctccata	9	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:97731224C>T	uc011bgr.1	-	4	494	c.494G>A	c.(493-495)CGC>CAC	p.R165H		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	165	Extracellular (Potential).				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				0						AGGGTGTACGCGCAGCATGAT	0.463													T	97731224	C	T	97731224	3	4	235	1	0	0	0	0	1	0	0	0	6178	768	27	1	932	1	GABRR3	3	97731224	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	19014188	97731224	100291206	298	117891											
IMPG2	50939	broad.mit.edu	37	chr3	101023021	101023021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttctatgttccacagatTcactaaaatttgtgcccatt	5	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:101023021T>C	uc003duq.1	-	3	673	c.470A>G	c.(469-471)GAA>GGA	p.E157G	IMPG2_uc011bhe.1_Missense_Mutation_p.E20G	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	157	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TTCCACAGATTCACTAAAATT	0.403													C	101023021	T	C	101023021	3	2	235	1	0	0	0	0	1	0	0	0	7729	1783	62	3	3323	3	IMPG2	3	101023021	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3291797	101023021	96999409	299	117892											
CD200R1L	344807	broad.mit.edu	37	chr3	112546413	112546413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcttgtaggcttttgtGcaggaaggctggcctctcag	12	9	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:112546413G>A	uc003dzi.1	-	3	457	c.231C>T	c.(229-231)TGC>TGT	p.C77C	CD200R1L_uc011bhw.1_Silent_p.C56C|CD200R1L_uc010hqf.1_Silent_p.C56C	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	77	Ig-like V-type.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1						AGGCTTTTGTGCAGGAAGGCT	0.413													A	112546413	G	A	112546413	2	1	235	1	0	0	0	0	0	0	0	1	2982	1311	46	2		2	CD200R1L	3	112546413	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	11523392	112546413	85476017	300	117893											
CCDC52	152185	broad.mit.edu	37	chr3	113184616	113184616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtctctacttctttacGtagctggatctcactctaca	5	13	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:113184616G>A	uc003eag.3	-	11	1462	c.1171C>T	c.(1171-1173)CGT>TGT	p.R391C	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.R287C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	391	Potential.				cell division|mitosis	centriole|spindle	protein binding				0						ACTTCTTTACGTAGCTGGATC	0.378													A	113184616	G	A	113184616	3	1	235	1	0	0	0	0	1	0	0	0	2822	1145	40	1	1428	1	CCDC52	3	113184616	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	638203	113184616	84837814	301	117894											
KIAA2018	205717	broad.mit.edu	37	chr3	113374252	113374252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgagggctggagttcgagTggcactaggctgagtaacct	16	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:113374252T>C	uc003eam.2	-	7	6688	c.6277A>G	c.(6277-6279)ACT>GCT	p.T2093A	KIAA2018_uc003eal.2_Missense_Mutation_p.T2037A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	2093					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GGAGTTCGAGTGGCACTAGGC	0.443													C	113374252	T	C	113374252	3	2	235	1	0	0	0	0	1	0	0	0	8268	1696	59	3	464	3	KIAA2018	3	113374252	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	189636	113374252	84648178	302	117895											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	235	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	683751	114058003	83964427	303	117896											
ZBTB20	26137	broad.mit.edu	37	chr3	114069778	114069778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcaggctcggtgcctaTggaggagctgacgcccgagt	16	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:114069778T>C	uc003ebi.2	-	4	1327	c.1147A>G	c.(1147-1149)ATA>GTA	p.I383V	ZBTB20_uc003ebj.2_Missense_Mutation_p.I310V|ZBTB20_uc010hqp.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebk.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebl.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebm.2_Missense_Mutation_p.I310V|ZBTB20_uc003ebn.2_Missense_Mutation_p.I310V|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCGGTGCCTATGGAGGAGCTG	0.657													C	114069778	T	C	114069778	3	2	235	1	0	0	0	0	1	0	0	0	17526	1464	51	3	1086	3	ZBTB20	3	114069778	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	11775	114069778	83952652	304	117897											
C3orf30	152405	broad.mit.edu	37	chr3	118866168	118866168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagaatatttccccagttaGgcaacagcaaagaggacaaa	8	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:118866168G>T	uc003ecb.1	+	1	1172	c.1132G>T	c.(1132-1134)GGC>TGC	p.G378C	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.G378C	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	378										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		TCCCCAGTTAGGCAACAGCAA	0.448													T	118866168	G	T	118866168	3	4	235	1	0	0	0	0	1	0	0	0	2220	1000	35	5	1134	5	C3orf30	3	118866168	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4796390	118866168	79156262	305	117898											
ARHGAP31	57514	broad.mit.edu	37	chr3	119120866	119120866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcagccatctccagggcGctcaggcccggcccccaccg	11	20	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:119120866G>A	uc003ecj.3	+	10	1799	c.1267G>A	c.(1267-1269)GCT>ACT	p.A423T		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						TCTCCAGGGCGCTCAGGCCCG	0.622													A	119120866	G	A	119120866	3	1	235	1	0	0	0	0	1	0	0	0	880	1087	38	1	1305	1	ARHGAP31	3	119120866	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	254698	119120866	78901564	306	117899											
C3orf15	89876	broad.mit.edu	37	chr3	119434407	119434407	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaactgatttttctcttttAgggcagaaccatacactttt	5	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:119434407A>G	uc003ede.3	+	6	578	c.501_splice	c.e6-2	p.K167_splice	C3orf15_uc003edc.2_Splice_Site_p.K167_splice|C3orf15_uc010hqy.1_Splice_Site_p.K167_splice|C3orf15_uc010hqz.2_Splice_Site_p.K105_splice|C3orf15_uc011bjd.1_Splice_Site_p.K41_splice|C3orf15_uc011bje.1_Splice_Site_p.K147_splice|C3orf15_uc010hra.1_Splice_Site	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha							mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		TTTCTCTTTTAGGGCAGAACC	0.368													G	119434407	A	G	119434407	5	3	235	1	0	0	0	0	0	0	1	0	2209	434	15	3	521	3	C3orf15	3	119434407	Splice_Site	SNP	A	TCGA-F1-6177-01A-11D-1800-08	313541	119434407	78588023	307	117900											
MYLK	4638	broad.mit.edu	37	chr3	123457860	123457861	+	Frame_Shift_Ins	INS	-	-	C													gcaaactttggtgggcactcINScccccagatgctaggacggg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:123457859_123457860T>TC	uc003ego.3	-	6	754_755	c.472_473A>GA	c.(472-474)gagfs	p.E158fs	MYLK_uc011bjw.2_Frame_Shift_Ins_p.E158fs|MYLK_uc003egp.3_Frame_Shift_Ins_p.E158fs|MYLK_uc003egq.3_Frame_Shift_Ins_p.E158fs|MYLK_uc003egr.3_Frame_Shift_Ins_p.E158fs|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Frame_Shift_Ins_p.E158fs	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	158					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.E158fs*79(2)		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)		TGGTGGGCACTCCCCCCAGATG	0.55													C	123457861	-	C	123457860	7	5	235	1	0	1	1	0	0	0	0	0	10056	864	30	0	5384	0	MYLK	3	123457860	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	4023453	123457860	74564570	308	117901											
KALRN	8997	broad.mit.edu	37	chr3	124174076	124174076	+	Frame_Shift_Del	DEL	A	A	-													gctggccgatagctttgtggAaaaaggccacattcatgcca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:124174076delA	uc003ehg.2	+	22	3726	c.3599delA	c.(3598-3600)GAAfs	p.E1200fs	KALRN_uc010hrv.1_Frame_Shift_Del_p.E1191fs|KALRN_uc003ehf.1_Frame_Shift_Del_p.E1200fs|KALRN_uc011bjy.1_Frame_Shift_Del_p.E1191fs|KALRN_uc003ehh.1_Frame_Shift_Del_p.E546fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1200	Spectrin 5.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AGCTTTGTGGAAAAAGGCCAC	0.468													-	124174076	A	-	124174076	7	5	235	1	0	1	0	1	0	0	0	0	7975	246	9	0	3685	0	KALRN	3	124174076	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	716216	124174076	73848354	309	117902											
UMPS	7372	broad.mit.edu	37	chr3	124457070	124457071	+	Frame_Shift_Ins	INS	-	-	A													cagatataggaaacacagtgINSaaaaagcagtatgaaggtaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:124457070_124457071insA	uc003ehl.3	+	3	1072_1073	c.966_967insA	c.(964-969)GTGAAAfs	p.V322fs	UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkb.1_Frame_Shift_Ins_p.V230fs|UMPS_uc011bkc.1_Frame_Shift_Ins_p.V144fs|UMPS_uc003ehn.3_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkd.1_Frame_Shift_Ins_p.V144fs	NM_000373	NP_000364	P11172	UMPS_HUMAN	uridine monophosphate synthase	322_323	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			kidney(1)	1				GBM - Glioblastoma multiforme(114;0.146)		GAAACACAGTGAAAAAGCAGTA	0.252													A	124457071	-	A	124457070	7	5	235	1	0	1	1	0	0	0	0	0	16978	1277	45	0	976	0	UMPS	3	124457070	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	282994	124457070	73565360	310	117903	576	2									
UMPS	7372	broad.mit.edu	37	chr3	124457071	124457072	+	Frame_Shift_Ins	INS	-	-	A													agatataggaaacacagtgaINSaaaagcagtatgaaggtaag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:124457070_124457071G>GA	uc003ehl.4	+	2	1072_1073	c.966_967G>GA	c.(964-969)gtgaaafs	p.V322fs	UMPS_uc011bkb.2_Frame_Shift_Ins_p.V230fs|UMPS_uc003ehn.4_Frame_Shift_Ins_p.V144fs|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkc.2_Frame_Shift_Ins_p.V144fs|UMPS_uc011bkd.2_Frame_Shift_Ins_p.V144fs	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	322	OMPdecase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base 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)		GAAACACAGTGAAAAAGCAGTA	0.361													A	124457072	-	A	124457071	7	5	235	1	0	1	1	0	0	0	0	0	16978	247	9	0	977	0	UMPS	3	124457071	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	124457071	73565359	311	117904	576	2									
UROC1	131669	broad.mit.edu	37	chr3	126236457	126236457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttctccacagggctgaGgctgggggtcctgacagggg	17	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:126236457G>T	uc003eiz.1	-	1	138	c.106C>A	c.(106-108)CTC>ATC	p.L36I	UROC1_uc010hsi.1_Missense_Mutation_p.L36I	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	36					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		ACAGGGCTGAGGCTGGGGGTC	0.682													T	126236457	G	T	126236457	3	4	235	1	0	0	0	0	1	0	0	0	17025	1000	35	5	2188	5	UROC1	3	126236457	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1779386	126236457	71785973	312	117905											
PLXNA1	5361	broad.mit.edu	37	chr3	126733584	126733584	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatcggggacgccagctcCgtgcgtgcccatgacgccct	14	15	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:126733584C>A	uc003ejg.2	+	13	2722	c.2718C>A	c.(2716-2718)TCC>TCA	p.S906S		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	929	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ACGCCAGCTCCGTGCGTGCCC	0.577													A	126733584	C	A	126733584	2	1	235	1	0	0	0	0	0	0	0	1	12119	639	23	5		5	PLXNA1	3	126733584	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	497127	126733584	71288846	313	117906											
EEFSEC	60678	broad.mit.edu	37	chr3	128060188	128060188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctaagctgctggagcGcgggttggtgtgtgcccccg	16	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:128060188G>A	uc003eki.2	+	5	937	c.899G>A	c.(898-900)CGC>CAC	p.R300H	EEFSEC_uc003ekj.2_Missense_Mutation_p.R245H	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	300						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CTGCTGGAGCGCGGGTTGGTG	0.597													A	128060188	G	A	128060188	3	1	235	1	0	0	0	0	1	0	0	0	4931	1087	38	1	917	1	EEFSEC	3	128060188	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1326604	128060188	69962242	314	117907											
RAB7A	7879	broad.mit.edu	37	chr3	128516847	128516848	+	Frame_Shift_Ins	INS	-	-	CC													attcagcaatcagtacaaagINSccacaataggagctgacttt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:128516847_128516848insCC	uc003eks.1	+	3	347_348	c.115_116insCC	c.(115-117)GCCfs	p.A39fs	RAB7A_uc010hsv.1_Frame_Shift_Ins_p.A39fs|RAB7A_uc003ekt.2_Frame_Shift_Ins_p.A15fs	NM_004637	NP_004628	P51149	RAB7A_HUMAN	RAB7, member RAS oncogene family	39	Effector region (By similarity).				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding				0				GBM - Glioblastoma multiforme(114;0.231)		TCAGTACAAAGCCACAATAGGA	0.441													CC	128516848	-	CC	128516847	7	5	235	1	0	1	1	0	0	0	0	0	12954	971	34	0	121	0	RAB7A	3	128516847	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	456659	128516847	69505583	315	117908	577	2									
RAB7A	7879	broad.mit.edu	37	chr3	128516848	128516849	+	Frame_Shift_Ins	INS	-	-	CC													ttcagcaatcagtacaaagcINScacaataggagctgactttc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:128516847_128516848G>GCC	uc003eks.1	+	2	347_348	c.115_116G>GCC	c.(115-117)gccfs	p.A39fs	RAB7A_uc010hsv.1_Frame_Shift_Ins_p.A39fs	NM_004637	NP_004628	P51149	RAB7A_HUMAN	Homo sapiens RAB7A, member RAS oncogene family (RAB7A), mRNA.	39					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCAGTACAAAGCCACAATAGGA	0.441													CC	128516849	-	CC	128516848	7	5	235	1	0	1	1	0	0	0	0	0	12954	739	26	0	122	0	RAB7A	3	128516848	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	128516848	69505582	316	117909	577	2									
ASTE1	28990	broad.mit.edu	37	chr3	130743433	130743433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagctccaagaggaagacGcgctttacttaagaatgtct	11	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:130743433G>A	uc003env.1	-	3	1160	c.718C>T	c.(718-720)CGT>TGT	p.R240C	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.R240C|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	240					DNA repair		nuclease activity				0						AGAGGAAGACGCGCTTTACTT	0.453													A	130743433	G	A	130743433	3	1	235	1	0	0	0	0	1	0	0	0	1062	1087	38	1	1337	1	ASTE1	3	130743433	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2226585	130743433	67278997	317	117910											
NPHP3	27031	broad.mit.edu	37	chr3	132424628	132424630	+	In_Frame_Del	DEL	CTT	CTT	-													aatataagttttatatactcCttctgcaggatctcctgagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:132424628_132424630delCTT	uc003epe.1	-	8	1381_1383	c.1304_1306delAAG	c.(1303-1308)GAAGGA>GGA	p.E435del	NPHP3_uc003epf.1_In_Frame_Del_p.E190del	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	435					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			ovary(1)	1						TTATATACTCCTTCTGCAGGATC	0.271													-	132424630	CTT	-	132424628	7	5	235	1	0	1	0	1	0	0	0	0	10580	690	24	0	2766	0	NPHP3	3	132424628	In_Frame_Del	DEL	CTT	TCGA-F1-6177-01A-11D-1800-08	1681195	132424628	65597802	318	117911											
NCK1	4690	broad.mit.edu	37	chr3	136664467	136664467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagtgtgccagattctgCatctcctgctgatgatagtt	9	10	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:136664467C>T	uc003erh.2	+	3	376	c.269C>T	c.(268-270)GCA>GTA	p.A90V	NCK1_uc011bme.1_Missense_Mutation_p.A26V	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	90					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			pancreas(1)	1						CCAGATTCTGCATCTCCTGCT	0.398													T	136664467	C	T	136664467	3	4	235	1	0	0	0	0	1	0	0	0	10219	710	25	2	275	2	NCK1	3	136664467	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4239839	136664467	61357963	319	117912											
SPSB4	92369	broad.mit.edu	37	chr3	140785469	140785469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaggcctttgcgctgcccGactcgctgctcgtggtgctg	14	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:140785469G>A	uc003ett.2	+	2	777	c.523G>A	c.(523-525)GAC>AAC	p.D175N	SPSB4_uc010hum.2_Missense_Mutation_p.D175N	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	175	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						TGCGCTGCCCGACTCGCTGCT	0.667													A	140785469	G	A	140785469	3	1	235	1	0	0	0	0	1	0	0	0	15114	1058	37	1	525	1	SPSB4	3	140785469	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4121002	140785469	57236961	320	117913											
XRN1	54464	broad.mit.edu	37	chr3	142151518	142151518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctaaaacgcctcccaCgctgctggttcatttttgct	6	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:142151518C>T	uc003eus.2	-	2	360	c.293G>A	c.(292-294)CGT>CAT	p.R98H	XRN1_uc003eut.2_Missense_Mutation_p.R98H|XRN1_uc003euu.2_Missense_Mutation_p.R98H|XRN1_uc003euw.2_Missense_Mutation_p.R98H|XRN1_uc011bnh.1_Translation_Start_Site	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	98					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			ovary(3)	3						ACGCCTCCCACGCTGCTGGTT	0.338													T	142151518	C	T	142151518	3	4	235	1	0	0	0	0	1	0	0	0	17456	536	19	1	4991	1	XRN1	3	142151518	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1366049	142151518	55870912	321	117914											
PLSCR1	5359	broad.mit.edu	37	chr3	146233845	146233845	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatccactaccacactcctGatttttgttcctggctgcca	5	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:146233845G>A	uc003evx.3	-	9	1332	c.944C>T	c.(943-945)TCA>TTA	p.S315L	PLSCR1_uc003evy.3_Missense_Mutation_p.S308L|PLSCR1_uc011bnn.1_Missense_Mutation_p.S234L|PLSCR1_uc003evz.3_RNA	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	315	Extracellular.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						CCACACTCCTGATTTTTGTTC	0.338													A	146233845	G	A	146233845	3	1	235	1	0	0	0	0	1	0	0	0	12109	1294	45	4	16	4	PLSCR1	3	146233845	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4082327	146233845	51788585	322	117915											
ZIC1	7545	broad.mit.edu	37	chr3	147128311	147128311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacggccacacggacgccGcgggccacctcctcttcccc	9	22	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:147128311G>A	uc003ewe.2	+	1	1131	c.412G>A	c.(412-414)GCG>ACG	p.A138T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	138					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			ovary(1)|central_nervous_system(1)	2						CACGGACGCCGCGGGCCACCT	0.721													A	147128311	G	A	147128311	3	1	235	1	0	0	0	0	1	0	0	0	17675	1087	38	1	414	1	ZIC1	3	147128311	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	894466	147128311	50894119	323	117916											
AADAC	13	broad.mit.edu	37	chr3	151545391	151545391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacccagatgtcaagatcAaactcaagatccagtcttta	6	10	4	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:151545391A>G	uc003eze.2	+	5	721	c.631A>G	c.(631-633)AAA>GAA	p.K211E		NM_001086	NP_001077	P22760	AAAD_HUMAN	arylacetamide deacetylase	211	Lumenal (Potential).				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			skin(2)	2		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGTCAAGATCAAACTCAAGAT	0.313													G	151545391	A	G	151545391	3	3	235	1	0	0	0	0	1	0	0	0	10	131	5	3	649	3	AADAC	3	151545391	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	4417080	151545391	46477039	324	117917											
C3orf33	285315	broad.mit.edu	37	chr3	155481462	155481463	+	Frame_Shift_Ins	INS	-	-	A													aatctgatcctgttgtttttINSaaaaaactgtcctttttcca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:155481462_155481463insA	uc003fal.1	-	6	869_870	c.599_600insT	c.(598-600)TTAfs	p.L200fs	C3orf33_uc003fam.1_Frame_Shift_Ins_p.L243fs	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	200							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGTTGTTTTTAAAAAACTGTC	0.302													A	155481463	-	A	155481462	7	5	235	1	0	1	1	0	0	0	0	0	2223	1751	61	0	159	0	C3orf33	3	155481462	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	3936071	155481462	42540968	325	117918	578	2									
C3orf33	285315	broad.mit.edu	37	chr3	155481463	155481464	+	Frame_Shift_Ins	INS	-	-	A													atctgatcctgttgtttttaINSaaaaactgtcctttttccat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:155481462_155481463T>TA	uc003fam.1	-	4	742_743	c.728_729A>TA	c.(727-729)ttafs	p.L243fs	C3orf33_uc003fal.1_Frame_Shift_Ins_p.L200fs	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Homo sapiens chromosome 3 open reading frame 33 (C3orf33), mRNA.	200							hydrolase activity, acting on ester bonds|nucleic acid binding	p.R242C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGTTGTTTTTAAAAAACTGTC	0.302													A	155481464	-	A	155481463	7	5	235	1	0	1	1	0	0	0	0	0	2223	372	13	0	160	0	C3orf33	3	155481463	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	155481463	42540967	326	117919	578	2									
GFM1	85476	broad.mit.edu	37	chr3	158383230	158383230	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagacagttatatctggAatgggagaattacacctgga	11	5	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:158383230A>G	uc003fce.2	+	12	1592	c.1485A>G	c.(1483-1485)GGA>GGG	p.G495G	GFM1_uc003fcd.2_Silent_p.G495G|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.G426G	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	495					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTATATCTGGAATGGGAGAAT	0.313													G	158383230	A	G	158383230	2	3	235	1	0	0	0	0	0	0	0	1	6341	233	9	3		3	GFM1	3	158383230	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2901767	158383230	39639200	327	117920											
MFSD1	64747	broad.mit.edu	37	chr3	158541915	158541915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttcttccattgtagcaTgcagtccattcagaatcttg	6	9	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:158541915T>C	uc003fcl.1	+	13	1208	c.1178T>C	c.(1177-1179)ATG>ACG	p.M393T	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.M296T|MFSD1_uc011bow.1_Missense_Mutation_p.M354T|MFSD1_uc011box.1_Missense_Mutation_p.M320T	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	393	Helical; (Potential).				transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CATTGTAGCATGCAGTCCATT	0.368													C	158541915	T	C	158541915	3	2	235	1	0	0	0	0	1	0	0	0	9527	1464	51	3	1375	3	MFSD1	3	158541915	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	158685	158541915	39480515	328	117921											
WDR49	151790	broad.mit.edu	37	chr3	167248986	167248986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcaatctcaaagttgCggactcccgtggtagaatgg	12	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:167248986C>T	uc003fev.1	-	9	1385	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	WDR49_uc003feu.1_Missense_Mutation_p.R185H|WDR49_uc011bpd.1_Missense_Mutation_p.R424H|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	360										large_intestine(1)|ovary(1)|skin(1)	3						CTCAAAGTTGCGGACTCCCGT	0.443													T	167248986	C	T	167248986	3	4	235	1	0	0	0	0	1	0	0	0	17299	768	27	1	1042	1	WDR49	3	167248986	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	8707071	167248986	30773444	329	117922											
WDR49	151790	broad.mit.edu	37	chr3	167277927	167277927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatagtgctgatttctgcGttgccgtggcaaccagtaaa	11	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:167277927G>A	uc003fev.1	-	5	882	c.576C>T	c.(574-576)AAC>AAT	p.N192N	WDR49_uc003feu.1_Silent_p.N17N|WDR49_uc011bpd.1_Silent_p.N245N|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	192	WD 4.									large_intestine(1)|ovary(1)|skin(1)	3						TGATTTCTGCGTTGCCGTGGC	0.453													A	167277927	G	A	167277927	2	1	235	1	0	0	0	0	0	0	0	1	17299	1136	40	1		1	WDR49	3	167277927	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	28941	167277927	30744503	330	117923											
MECOM	2122	broad.mit.edu	37	chr3	168833604	168833605	+	Frame_Shift_Ins	INS	-	-	T													gggtaaggtaaagctccaacINSttttttgtcttgcagcccca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:168833604_168833605insT	uc003ffi.3	-	7	1760_1761	c.1491_1492insA	c.(1489-1494)AAAGTTfs	p.K497fs	MECOM_uc010hwk.1_Frame_Shift_Ins_p.K520fs|MECOM_uc003ffj.3_Frame_Shift_Ins_p.K562fs|MECOM_uc011bpi.1_Frame_Shift_Ins_p.K498fs|MECOM_uc003ffn.3_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffk.2_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffl.2_Frame_Shift_Ins_p.K657fs|MECOM_uc011bpj.1_Frame_Shift_Ins_p.K685fs|MECOM_uc011bpk.1_Frame_Shift_Ins_p.K487fs|MECOM_uc010hwn.2_Frame_Shift_Ins_p.K685fs	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	497_498					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AAAGCTCCAACTTTTTTGTCTT	0.431													T	168833605	-	T	168833604	7	5	235	1	0	1	1	0	0	0	0	0	9422	565	20	0	1703	0	MECOM	3	168833604	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1555677	168833604	29188826	331	117924	579	2									
MECOM	2122	broad.mit.edu	37	chr3	168833605	168833606	+	Frame_Shift_Ins	INS	-	-	T													ggtaaggtaaagctccaactINStttttgtcttgcagccccac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:168833604_168833605C>CT	uc011bpj.1	-	7	2458_2459	c.2055_2056G>AG	c.(2053-2058)aaagttfs	p.K685fs	MECOM_uc010hwk.1_Frame_Shift_Ins_p.K520fs|MECOM_uc003ffj.3_Frame_Shift_Ins_p.K562fs|MECOM_uc003ffi.3_Frame_Shift_Ins_p.K497fs|MECOM_uc011bpi.1_Frame_Shift_Ins_p.K498fs|MECOM_uc003ffn.3_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffk.2_Frame_Shift_Ins_p.K497fs|MECOM_uc003ffl.2_Frame_Shift_Ins_p.K657fs|MECOM_uc011bpk.1_Frame_Shift_Ins_p.K497fs|MECOM_uc010hwn.2_Frame_Shift_Ins_p.K685fs	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	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						AAAGCTCCAACTTTTTTGTCTT	0.431													T	168833606	-	T	168833605	7	5	235	1	0	1	1	0	0	0	0	0	9422	1606	56	0	1704	0	MECOM	3	168833605	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	168833605	29188825	332	117925	579	2									
PRKCI	5584	broad.mit.edu	37	chr3	169998128	169998129	+	Frame_Shift_Ins	INS	-	-	A													aagtactgttggttcgattaINSaaaaaaacagatcgtattta					rs150239950		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:169998127_169998128T>TA	uc003fgs.2	+	8	1056_1057	c.818_819T>TA	c.(817-819)ttafs	p.L273fs		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	273	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.M273I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTGGTTCGATTAAAAAAAACAG	0.371													A	169998129	-	A	169998128	7	5	235	1	0	1	1	0	0	0	0	0	12514	359	13	0	853	0	PRKCI	3	169998128	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1164523	169998128	28024302	333	117926											
EIF5A2	56648	broad.mit.edu	37	chr3	170624844	170624844	+	Frame_Shift_Del	DEL	T	T	-													gaaggacaaatatcttcataTtttttgcccgtgaaaatatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:170624844delT	uc003fhd.2	-	3	334	c.204delA	c.(202-204)AAAfs	p.K68fs		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	eIF-5A2 protein	68					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity				0	all_cancers(22;1.61e-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;9.8e-16)|Lung(28;4.28e-15)			TATCTTCATATTTTTTGCCCG	0.343													-	170624844	T	-	170624844	7	5	235	1	0	1	0	1	0	0	0	0	5042	1490	52	0	269	0	EIF5A2	3	170624844	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	626716	170624844	27397586	334	117927											
PLD1	5337	broad.mit.edu	37	chr3	171427481	171427481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcatgtctatagctgttGcattttaaaataagtgtcct	8	7	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:171427481G>A	uc003fhs.2	-	10	1046	c.930C>T	c.(928-930)TGC>TGT	p.C310C	PLD1_uc003fht.2_Silent_p.C310C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	310	PH.				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			ovary(2)|lung(1)	3	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)	TATAGCTGTTGCATTTTAAAA	0.373													A	171427481	G	A	171427481	2	1	235	1	0	0	0	0	0	0	0	1	12045	1311	46	2		2	PLD1	3	171427481	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	802637	171427481	26594949	335	117928											
SPATA16	83893	broad.mit.edu	37	chr3	172835263	172835263	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttggcttttcttcaccttCtgccttccgtttaaaggctg	8	11	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:172835263C>T	uc003fin.3	-	2	417	c.259G>A	c.(259-261)GAA>AAA	p.E87K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	87					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCTTCACCTTCTGCCTTCCGT	0.378													T	172835263	C	T	172835263	3	4	235	1	0	0	0	0	1	0	0	0	15000	922	32	4	1490	4	SPATA16	3	172835263	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1407782	172835263	25187167	336	117929											
PIK3CA	5290	broad.mit.edu	37	chr3	178916891	178916891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacgactttgtgaccttcGgctttttcaaccctttttaa	6	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:178916891G>A	uc003fjk.2	+	2	435	c.278G>A	c.(277-279)CGG>CAG	p.R93Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	93	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	p.R93W(5)|p.R93Q(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TGTGACCTTCGGCTTTTTCAA	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916891	G	A	178916891	3	1	235	1	0	0	0	0	1	0	0	0	11913	1116	39	1	280	1	PIK3CA	3	178916891	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6081628	178916891	19105539	337	117930											
PIK3CA	5290	broad.mit.edu	37	chr3	178936096	178936096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgaaatcactgagcaGgagaaagattttctatggag	10	7	3	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:178936096G>T	uc003fjk.2	+	10	1795	c.1638G>T	c.(1636-1638)CAG>CAT	p.Q546H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	546	PI3K helical.		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (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.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TCACTGAGCAGGAGAAAGATT	0.358		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178936096	G	T	178936096	3	4	235	1	0	0	0	0	1	0	0	0	11913	991	35	5	1672	5	PIK3CA	3	178936096	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	19205	178936096	19086334	338	117931											
PSMD2	5708	broad.mit.edu	37	chr3	184020259	184020259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaagctctgagattggCattgatgctcaatgacatgg	11	9	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:184020259C>T	uc003fnn.1	+	6	839	c.806C>T	c.(805-807)GCA>GTA	p.A269V	PSMD2_uc011brj.1_Missense_Mutation_p.A110V|PSMD2_uc011brk.1_Missense_Mutation_p.A139V	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	269					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				0	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)	CTGAGATTGGCATTGATGCTC	0.488													T	184020259	C	T	184020259	3	4	235	1	0	0	0	0	1	0	0	0	12698	710	25	2	828	2	PSMD2	3	184020259	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5084163	184020259	14002171	339	117932											
EPHB3	2049	broad.mit.edu	37	chr3	184298851	184298851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctggactgctgggtgcGggaccggaacctcaggccca	15	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:184298851G>A	uc003foz.2	+	14	3067	c.2630G>A	c.(2629-2631)CGG>CAG	p.R877Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	877	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGCTGGGTGCGGGACCGGAAC	0.597													A	184298851	G	A	184298851	3	1	235	1	0	0	0	0	1	0	0	0	5176	1116	39	1	2684	1	EPHB3	3	184298851	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	278592	184298851	13723579	340	117933											
DNAJB11	51726	broad.mit.edu	37	chr3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagatcaccaggccaggagCgaagctatggaagaaagggg	15	7	1	2	rs139219315		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:186302256C>T	uc003fqi.2	+	9	1110	c.890C>T	c.(889-891)GCG>GTG	p.A297V		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	297					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448													T	186302256	C	T	186302256	3	4	235	1	0	0	0	0	1	0	0	0	4616	768	27	1	924	1	DNAJB11	3	186302256	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2003405	186302256	11720174	341	117934											
PAK2	5062	broad.mit.edu	37	chr3	196554152	196554152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcgggatttcttaaatcGatgtttggaaatggatgtgg	12	3	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:196554152G>A	uc003fwy.3	+	14	1758	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	479	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			ovary(1)|lung(1)	2	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)		TTCTTAAATCGATGTTTGGAA	0.348													A	196554152	G	A	196554152	3	1	235	1	0	0	0	0	1	0	0	0	11401	1058	37	1	1486	1	PAK2	3	196554152	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10251896	196554152	1468278	342	117935											
DLG1	1739	broad.mit.edu	37	chr3	196846372	196846372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagaaggaagatgggcTaacatggttatcaacaggct	12	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:196846372T>C	uc003fxo.3	-	13	1484	c.1294A>G	c.(1294-1296)AGC>GGC	p.S432G	DLG1_uc011bub.1_Missense_Mutation_p.S316G|DLG1_uc011buc.1_Missense_Mutation_p.S316G|DLG1_uc011bud.1_Missense_Mutation_p.S115G|DLG1_uc003fxn.3_Missense_Mutation_p.S432G|DLG1_uc011bue.1_Missense_Mutation_p.S399G|DLG1_uc010ial.2_Missense_Mutation_p.S432G|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.S399G|DLG1_uc010ian.2_Missense_Mutation_p.S299G	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	432					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			ovary(3)	3	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)		GAAGATGGGCTAACATGGTTA	0.403													C	196846372	T	C	196846372	3	2	235	1	0	0	0	0	1	0	0	0	4554	1522	53	3	1580	3	DLG1	3	196846372	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	292220	196846372	1176058	343	117936											
KIAA0226	9711	broad.mit.edu	37	chr3	197427748	197427748	+	Frame_Shift_Del	DEL	G	G	-													acagctggcagtccggcctcGggggtccaagttgccaatgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr3:197427748delG	uc003fyc.2	-	7	1180	c.997delC	c.(997-999)CGAfs	p.R333fs	KIAA0226_uc003fyd.3_Frame_Shift_Del_p.R273fs|KIAA0226_uc003fye.1_Frame_Shift_Del_p.R40fs|KIAA0226_uc003fyf.2_Frame_Shift_Del_p.R166fs|KIAA0226_uc003fyg.2_Frame_Shift_Del_p.R326fs	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	333	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	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)		GTCCGGCCTCGGGGGTCCAAG	0.597													-	197427748	G	-	197427748	7	5	235	1	0	1	0	1	0	0	0	0	8162	1124	39	0	2026	0	KIAA0226	3	197427748	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	581376	197427748	594682	344	117937											
PDE6B	5158	broad.mit.edu	37	chr4	660390	660390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcgacttcgtgtgcaCattcgtgtacaaggcgagtg	11	10	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:660390C>T	uc003gap.2	+	20	2392	c.2339C>T	c.(2338-2340)ACA>ATA	p.T780I	PDE6B_uc003gao.3_Missense_Mutation_p.T780I|PDE6B_uc011buy.1_Missense_Mutation_p.T501I|PDE6B_uc011buz.1_Missense_Mutation_p.T212I	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	780					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				0						TTCGTGTGCACATTCGTGTAC	0.637													T	660390	C	T	660390	3	4	235	1	0	0	0	0	1	0	0	0	11646	478	17	4	2417	4	PDE6B	4	660390	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		660390	190493886	345	117938											
MFSD7	84179	broad.mit.edu	37	chr4	679630	679630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacccctcaccattaaCggaatgtcctcacccttctt	4	16	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:679630C>T	uc003gay.2	-	4	636	c.579G>A	c.(577-579)CCG>CCA	p.P193P	MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Silent_p.P193P|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Silent_p.P129P	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	193	Helical; (Potential).				transmembrane transport	integral to membrane					0						TCACCATTAACGGAATGTCCT	0.587													T	679630	C	T	679630	2	4	235	1	0	0	0	0	0	0	0	1	9537	523	19	1		1	MFSD7	4	679630	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	19240	679630	190474646	346	117939											
TMEM175	84286	broad.mit.edu	37	chr4	951745	951745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggactgctgtggttcGcccaccactcactcttcctg	10	15	2	0	rs143946130		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:951745G>A	uc003gbq.2	+	11	1074	c.976G>A	c.(976-978)GCC>ACC	p.A326T	TMEM175_uc003gbr.2_Missense_Mutation_p.A244T|TMEM175_uc003gbu.2_Missense_Mutation_p.A244T|TMEM175_uc003gbs.2_Missense_Mutation_p.A209T|TMEM175_uc003gbt.2_Missense_Mutation_p.A209T|TMEM175_uc003gbv.2_Missense_Mutation_p.A209T|TMEM175_uc010ibm.2_Missense_Mutation_p.A142T	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	326	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTGGTTCGCCCACCACTC	0.677													A	951745	G	A	951745	3	1	235	1	0	0	0	0	1	0	0	0	16088	1087	38	1	1014	1	TMEM175	4	951745	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	272115	951745	190202531	347	117940											
HAUS3	79441	broad.mit.edu	37	chr4	2242634	2242634	+	Frame_Shift_Del	DEL	T	T	-													atcagctttgggataaccaaTtttttttaatgtttccacaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:2242634delT	uc003ges.1	-	2	270	c.40delA	c.(40-42)ATTfs	p.I14fs	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Frame_Shift_Del_p.I14fs|HAUS3_uc003get.1_Frame_Shift_Del_p.I14fs	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	14					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						GGATAACCAATTTTTTTTAAT	0.353													-	2242634	T	-	2242634	7	5	235	1	0	1	0	1	0	0	0	0	6967	1493	52	0	1787	0	HAUS3	4	2242634	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	1290889	2242634	188911642	348	117941											
RNF4	6047	broad.mit.edu	37	chr4	2515435	2515435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcgtttccacagaatgCggccatgtcttctgtagcca	8	13	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:2515435C>T	uc003gfb.2	+	8	798	c.462C>T	c.(460-462)TGC>TGT	p.C154C	RNF4_uc010icj.2_Missense_Mutation_p.A101V|RNF4_uc003gfc.2_Silent_p.C154C	NM_002938	NP_002929	P78317	RNF4_HUMAN	ring finger protein 4	154	RING-type.				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				0		all_epithelial(65;0.241)				CCACAGAATGCGGCCATGTCT	0.507													T	2515435	C	T	2515435	2	4	235	1	0	0	0	0	0	0	0	1	13492	777	27	1		1	RNF4	4	2515435	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	272801	2515435	188638841	349	117942											
FAM193A	8603	broad.mit.edu	37	chr4	2661728	2661728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctccagctctcccatcacAattcagcagcaccccaggct	7	18	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:2661728A>G	uc010icl.2	+	8	1170	c.819A>G	c.(817-819)ACA>ACG	p.T273T	FAM193A_uc010ick.2_Silent_p.T473T|FAM193A_uc003gfd.2_Silent_p.T273T|FAM193A_uc011bvm.1_Silent_p.T297T|FAM193A_uc011bvn.1_Silent_p.T273T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.T127T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	273										ovary(3)	3						CTCCCATCACAATTCAGCAGC	0.532													G	2661728	A	G	2661728	2	3	235	1	0	0	0	0	0	0	0	1	5524	117	5	3		3	FAM193A	4	2661728	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	146293	2661728	188492548	350	117943											
TBC1D14	57533	broad.mit.edu	37	chr4	6925428	6925428	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggccttccagagcgcCtgcgcgctgccatcctgtgc	14	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:6925428C>A	uc011bwg.1	+	2	391	c.312C>A	c.(310-312)GCC>GCA	p.A104A	TBC1D14_uc003gjs.3_Silent_p.A104A	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	104						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TCCAGAGCGCCTGCGCGCTGC	0.662													A	6925428	C	A	6925428	2	1	235	1	0	0	0	0	0	0	0	1	15600	668	24	5		5	TBC1D14	4	6925428	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4263700	6925428	184228848	351	117944											
TADA2B	93624	broad.mit.edu	37	chr4	7056590	7056590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagatcgcgagaaggtgCtctgcagctctttaaacttg	11	9	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:7056590C>A	uc003gjw.3	+	2	1223	c.1072C>A	c.(1072-1074)CTC>ATC	p.L358I	TADA2B_uc010idi.2_Missense_Mutation_p.L283I	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						CGAGAAGGTGCTCTGCAGCTC	0.537													A	7056590	C	A	7056590	3	1	235	1	0	0	0	0	1	0	0	0	15508	797	28	5	1078	5	TADA2B	4	7056590	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	131162	7056590	184097686	352	117945											
AFAP1	60312	broad.mit.edu	37	chr4	7802200	7802200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacctcctggccgttgcgcAgcagccggaacgtcagagga	13	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:7802200A>G	uc003gkg.1	-	10	1508	c.1235T>C	c.(1234-1236)CTG>CCG	p.L412P	AFAP1_uc011bwk.1_Missense_Mutation_p.L412P	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	412	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GCCGTTGCGCAGCAGCCGGAA	0.552													G	7802200	A	G	7802200	3	3	235	1	0	0	0	0	1	0	0	0	353	188	7	3	1245	3	AFAP1	4	7802200	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	745610	7802200	183352076	353	117946											
ABLIM2	84448	broad.mit.edu	37	chr4	8089996	8089996	+	Frame_Shift_Del	DEL	G	G	-													ttgaaggtcactcggtccccGggggggaagggcagcctgaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:8089995_8089995CG>C	uc003gko.3	-	3	498	c.355_355CG>G	c.(355-357)gggfs	p.G119fs	ABLIM2_uc003gkm.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkp.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkq.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkr.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkj.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gks.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc011bwl.1_Frame_Shift_Del_p.G124fs	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	119	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACTCGGTCCCCGGGGGGGAAG	0.652													-	8089996	G	-	8089996	7	5	235	1	0	1	0	1	0	0	0	0	95	1103	39	0	1709	0	ABLIM2	4	8089996	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	287796	8089996	183064280	354	117947											
ZNF518B	85460	broad.mit.edu	37	chr4	10446553	10446554	+	Frame_Shift_Ins	INS	-	-	T													tctatgtggatacaaattatINStttttttctgaaaatcctca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:10446552_10446553A>AT	uc003gmn.3	-	2	1887_1888	c.1400_1401T>AT	c.(1399-1401)aatfs	p.N467fs	ZNF518B_uc021xme.1_Frame_Shift_Ins_p.N467fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	467					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						GATACAAATTATTTTTTTTCTG	0.337													T	10446554	-	T	10446553	7	5	235	1	0	1	1	0	0	0	0	0	17960	1493	52	0	1828	0	ZNF518B	4	10446553	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2356557	10446553	180707723	355	117948											
FBXL5	26234	broad.mit.edu	37	chr4	15607351	15607351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagaagtcaagggtcattCgccagagcggcagcaggctc	13	11	3	2	rs143196332		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:15607351C>T	uc003goc.1	-	11	2174	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K	FBXL5_uc010idw.1_Missense_Mutation_p.E604K|FBXL5_uc003gob.1_Missense_Mutation_p.E565K|FBXL5_uc010idx.1_Missense_Mutation_p.E690K|FBXL5_uc003god.1_Missense_Mutation_p.E674K	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	691					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				0						AAGGGTCATTCGCCAGAGCGG	0.448													T	15607351	C	T	15607351	3	4	235	1	0	0	0	0	1	0	0	0	5722	893	31	1	8	1	FBXL5	4	15607351	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5160798	15607351	175546925	356	117949											
ARAP2	116984	broad.mit.edu	37	chr4	36109211	36109211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtttaattgtgtcagCggttaagaatctcttcacca	9	8	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:36109211C>T	uc003gsq.1	-	27	4599	c.4261G>A	c.(4261-4263)GCT>ACT	p.A1421T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1421					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTGTGTCAGCGGTTAAGAAT	0.423													T	36109211	C	T	36109211	3	4	235	1	0	0	0	0	1	0	0	0	839	768	27	1	881	1	ARAP2	4	36109211	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	20501860	36109211	155045065	357	117950											
TBC1D1	23216	broad.mit.edu	37	chr4	38134766	38134768	+	In_Frame_Del	DEL	AAG	AAG	-													agttgagtaccacgtccttcAagaagaacttatcgattcct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:38134765_38134767CAAG>C	uc003gtb.3	+	18	3551_3553	c.3193_3195CAAG>C	c.(3193-3195)caa>C	p.Q1065del	TBC1D1_uc011byd.2_In_Frame_Del_p.Q1056del|TBC1D1_uc010ifd.3_In_Frame_Del_p.Q852del|TBC1D1_uc021xnh.1_In_Frame_Del_p.Q162del|TBC1D1_uc021xni.1_In_Frame_Del_p.Q162del|TBC1D1_uc003gtd.3_In_Frame_Del_p.Q77del	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	1065						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						CCACGTCCTTCAAGAAGAACTTA	0.389													-	38134768	AAG	-	38134766	7	5	235	1	0	1	0	1	0	0	0	0	15594	130	5	0	3264	0	TBC1D1	4	38134766	In_Frame_Del	DEL	AAG	TCGA-F1-6177-01A-11D-1800-08	2025555	38134766	153019510	358	117951											
WDR19	57728	broad.mit.edu	37	chr4	39274601	39274601	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatatgtcatttgtttcagaTtcatgttaaaaatggagatc	7	4	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:39274601T>A	uc003gtv.2	+	32	3639	c.3485T>A	c.(3484-3486)ATT>AAT	p.I1162N	WDR19_uc011byi.1_Missense_Mutation_p.I1002N|WDR19_uc003gtw.1_Missense_Mutation_p.I759N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1162					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGTTTCAGATTCATGTTAAA	0.418													A	39274601	T	A	39274601	3	1	235	1	0	0	0	0	1	0	0	0	17276	1507	52	5	3611	5	WDR19	4	39274601	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1139835	39274601	151879675	359	117952											
LIAS	11019	broad.mit.edu	37	chr4	39462464	39462465	+	Frame_Shift_Ins	INS	-	-	A													gttaagctccttgccagataINSaaaaaaaggaactcctacag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:39462463_39462464T>TA	uc003guf.3	+	1	172_173	c.99_100T>TA	c.(97-102)gataaafs	p.D33fs	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Frame_Shift_Ins_p.D33fs|LIAS_uc011bym.2_Frame_Shift_Ins_p.D33fs|LIAS_uc003gug.3_Frame_Shift_Ins_p.D33fs	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CCTTGCCAGATAAAAAAAAGGA	0.391													A	39462465	-	A	39462464	7	5	235	1	0	1	1	0	0	0	0	0	8778	363	13	0	106	0	LIAS	4	39462464	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	187863	39462464	151691812	360	117953											
N4BP2	55728	broad.mit.edu	37	chr4	40121855	40121855	+	Frame_Shift_Del	DEL	A	A	-													caaatagaaatggtggctgtAaaagggtatagtaaaactga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:40121855delA	uc003guy.3	+	9	2462	c.2124delA	c.(2122-2124)GTAfs	p.V708fs	N4BP2_uc010ifq.2_Frame_Shift_Del_p.V628fs|N4BP2_uc010ifr.2_Frame_Shift_Del_p.V628fs	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	708						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGGTGGCTGTAAAAGGGTATA	0.363													-	40121855	A	-	40121855	7	5	235	1	0	1	0	1	0	0	0	0	10110	349	13	0	2150	0	N4BP2	4	40121855	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	659391	40121855	151032421	361	117954											
PHOX2B	8929	broad.mit.edu	37	chr4	41748145	41748145	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgcctccattcgccccGcagctgggggtggggttggg	17	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:41748145G>T	uc003gwf.3	-	3	984	c.624C>A	c.(622-624)TGC>TGA	p.C208*		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	208					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)|lung(2)|ovary(2)|central_nervous_system(1)	12						CATTCGCCCCGCAGCTGGGGG	0.418			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	41748145	G	T	41748145	4	4	235	1	0	0	0	0	0	1	0	0	11859	1079	38	5	324	5	PHOX2B	4	41748145	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1626290	41748145	149406131	362	117955											
TMEM33	55161	broad.mit.edu	37	chr4	41956148	41956148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgaaacctgcttgcccaCtgtttgtgagaagactttgt	9	8	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:41956148C>T	uc003gwi.2	+	7	1041	c.676C>T	c.(676-678)CTG>TTG	p.L226L	TMEM33_uc010ifw.2_RNA	NM_018126	NP_060596	P57088	TMM33_HUMAN	transmembrane protein 33	226						integral to membrane|melanosome	protein binding			ovary(1)	1						TGCTTGCCCACTGTTTGTGAG	0.358													T	41956148	C	T	41956148	2	4	235	1	0	0	0	0	0	0	0	1	16153	564	20	4		4	TMEM33	4	41956148	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	208003	41956148	149198128	363	117956											
CORIN	10699	broad.mit.edu	37	chr4	47605501	47605501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgggcaagcagacaggccGgacgtagccagtctcactga	14	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:47605501G>A	uc003gxm.2	-	20	2818	c.2725C>T	c.(2725-2727)CGG>TGG	p.R909W	CORIN_uc011bzf.1_Missense_Mutation_p.R770W|CORIN_uc011bzg.1_Missense_Mutation_p.R842W	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	909	Extracellular (Potential).|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			ovary(1)|central_nervous_system(1)	2						CAGACAGGCCGGACGTAGCCA	0.542													A	47605501	G	A	47605501	3	1	235	1	0	0	0	0	1	0	0	0	3752	1115	39	1	415	1	CORIN	4	47605501	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5649353	47605501	143548775	364	117957											
OCIAD2	132299	broad.mit.edu	37	chr4	48894819	48894819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaccaaaaccagccccaCggagctgatcttcaaaaaaa	8	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:48894819C>T	uc003gyt.2	-	6	556	c.353G>A	c.(352-354)CGT>CAT	p.R118H	OCIAD2_uc003gyu.2_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2 isoform 1	118	OCIA.					endosome					0						ACCAGCCCCACGGAGCTGATC	0.383													T	48894819	C	T	48894819	3	4	235	1	0	0	0	0	1	0	0	0	10818	536	19	1	119	1	OCIAD2	4	48894819	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1289318	48894819	142259457	365	117958											
LRRC66	339977	broad.mit.edu	37	chr4	52861027	52861027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagtcttgctccttgCactctctgaacttatggagc	7	13	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:52861027C>T	uc003gzi.2	-	4	2174	c.2161G>A	c.(2161-2163)GCA>ACA	p.A721T		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	721						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TTGCTCCTTGCACTCTCTGAA	0.527													T	52861027	C	T	52861027	3	4	235	1	0	0	0	0	1	0	0	0	9018	710	25	2	485	2	LRRC66	4	52861027	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3966208	52861027	138293249	366	117959											
LRRC66	339977	broad.mit.edu	37	chr4	52862277	52862277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgaatgggaggaaggCgggtttccctggaaatcctg	16	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:52862277C>T	uc003gzi.2	-	4	924	c.911G>A	c.(910-912)CGC>CAC	p.R304H		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	304						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GGGAGGAAGGCGGGTTTCCCT	0.527													T	52862277	C	T	52862277	3	4	235	1	0	0	0	0	1	0	0	0	9018	768	27	1	1735	1	LRRC66	4	52862277	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1250	52862277	138291999	367	117960											
FIP1L1	81608	broad.mit.edu	37	chr4	54319243	54319243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggacagagaaagagaacGcaccagagagagagagaggg	17	6	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:54319243G>A	uc003gzy.2	+	16	1628	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Missense_Mutation_p.R475H|FIP1L1_uc003gzz.2_Missense_Mutation_p.R407H|FIP1L1_uc003hab.2_Missense_Mutation_p.R446H|FIP1L1_uc003hac.2_Missense_Mutation_p.R235H|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.A66T|FIP1L1_uc003hae.2_Missense_Mutation_p.A66T	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	481	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			gaaagagaACGCACCAGAGAG	0.294			T	PDGFRA	idiopathic hypereosinophilic syndrome								A	54319243	G	A	54319243	3	1	235	1	0	0	0	0	1	0	0	0	5896	1087	38	1	1535	1	FIP1L1	4	54319243	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1456966	54319243	136835033	368	117961											
CENPC1	1060	broad.mit.edu	37	chr4	68372572	68372572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctgttggtatattacatGtatatccactggtctgaggc	9	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:68372572G>T	uc003hdd.1	-	11	2168	c.1985C>A	c.(1984-1986)ACA>AAA	p.T662K	CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.T662K	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	662					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						TATATTACATGTATATCCACT	0.343													T	68372572	G	T	68372572	3	4	235	1	0	0	0	0	1	0	0	0	3229	1377	48	5	882	5	CENPC1	4	68372572	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	14053329	68372572	122781704	369	117962											
CENPC1	1060	broad.mit.edu	37	chr4	68406764	68406764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctctgtgttaatgtcacGtgccctaataaaggaaaaat	8	7	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:68406764G>A	uc003hdd.1	-	3	253	c.70C>T	c.(70-72)CGT>TGT	p.R24C	CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.R24C	NM_001812	NP_001803	Q03188	CENPC_HUMAN	centromere protein C 1	24					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			urinary_tract(1)|lung(1)	2						TTAATGTCACGTGCCCTAATA	0.313													A	68406764	G	A	68406764	3	1	235	1	0	0	0	0	1	0	0	0	3229	1145	40	1	2829	1	CENPC1	4	68406764	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	34192	68406764	122747512	370	117963											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68788633	68788633	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtttaatggaacaactcGtttaccacaacctgaaaaaa	6	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:68788633G>A	uc003hdr.1	-	7	662	c.541C>T	c.(541-543)CGA>TGA	p.R181*	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Nonsense_Mutation_p.R178*	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	181	Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						GGAACAACTCGTTTACCACAA	0.294													A	68788633	G	A	68788633	4	1	235	1	0	0	0	0	0	1	0	0	16236	1153	40	1	740	1	TMPRSS11A	4	68788633	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	381869	68788633	122365643	371	117964											
UGT2B4	7363	broad.mit.edu	37	chr4	70360942	70360942	+	Frame_Shift_Del	DEL	T	T	-													aataaagcacatagatcataTtttttaccctctctatgaaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:70360942delT	uc003hek.3	-	1	685	c.638delA	c.(637-639)AATfs	p.N213fs	UGT2B4_uc011cap.1_Frame_Shift_Del_p.N77fs|UGT2B4_uc003hel.3_Frame_Shift_Del_p.N213fs	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	213					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						ATAGATCATATTTTTTACCCT	0.353													-	70360942	T	-	70360942	7	5	235	1	0	1	0	1	0	0	0	0	16958	1493	52	0	972	0	UGT2B4	4	70360942	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	1572309	70360942	120793334	372	117965											
CSN1S1	1446	broad.mit.edu	37	chr4	70810695	70810695	+	Frame_Shift_Del	DEL	A	A	-													cactgctcatgaaaattatgAaaaaaataacgtcatgctac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:70810695delA	uc003hep.1	+	15	579	c.530delA	c.(529-531)GAAfs	p.E177fs	CSN1S1_uc003heq.1_Frame_Shift_Del_p.E168fs|CSN1S1_uc003her.1_Frame_Shift_Del_p.E169fs	NM_001890	NP_001881	P47710	CASA1_HUMAN	casein alpha s1 isoform 1	177						extracellular region	protein binding|transporter activity				0						GAAAATTATGAAAAAAATAAC	0.393													-	70810695	A	-	70810695	7	5	235	1	0	1	0	1	0	0	0	0	3947	246	9	0	584	0	CSN1S1	4	70810695	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	449753	70810695	120343581	373	117966											
C4orf26	152816	broad.mit.edu	37	chr4	76489373	76489373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcacaaaataatgcggaCgctaccgactgccagatctt	8	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:76489373C>T	uc003hip.1	+	2	152	c.117C>T	c.(115-117)GAC>GAT	p.D39D	C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.T54M	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	hypothetical protein LOC152816 precursor	39						extracellular region					0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATAATGCGGACGCTACCGACT	0.542													T	76489373	C	T	76489373	2	4	235	1	0	0	0	0	0	0	0	1	2257	535	19	1		1	C4orf26	4	76489373	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5678678	76489373	114664903	374	117967											
FRAS1	80144	broad.mit.edu	37	chr4	79420976	79420976	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtgatccgcagaggggatCagaacaggacctccaaggtt	14	9	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:79420976C>T	uc003hlb.2	+	61	9657	c.9217C>T	c.(9217-9219)CAG>TAG	p.Q3073*	FRAS1_uc003hlc.1_Nonsense_Mutation_p.Q75*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3068	Calx-beta 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CAGAGGGGATCAGAACAGGAC	0.562													T	79420976	C	T	79420976	4	4	235	1	0	0	0	0	0	1	0	0	6042	827	29	4	9534	4	FRAS1	4	79420976	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2931603	79420976	111733300	375	117968											
BMP3	651	broad.mit.edu	37	chr4	81967532	81967532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgtgggaggagagaaaGccttacaagacccttcaggc	15	8	1	2	rs61729827	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:81967532G>T	uc003hmg.3	+	2	1277	c.957G>T	c.(955-957)AAG>AAT	p.K319N		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	319					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						AGGAGAGAAAGCCTTACAAGA	0.502													T	81967532	G	T	81967532	3	4	235	1	0	0	0	0	1	0	0	0	1461	962	34	5	963	5	BMP3	4	81967532	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2546556	81967532	109186744	376	117969											
PRKG2	5593	broad.mit.edu	37	chr4	82031710	82031710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatattctggagtcccaCagaatgtccatgttttctgt	7	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:82031710C>T	uc003hmh.2	-	14	1846	c.1832G>A	c.(1831-1833)TGT>TAT	p.C611Y	PRKG2_uc011ccf.1_Missense_Mutation_p.C191Y|PRKG2_uc011ccg.1_Missense_Mutation_p.C191Y|PRKG2_uc011cch.1_Missense_Mutation_p.C582Y	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	611	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TGGAGTCCCACAGAATGTCCA	0.413													T	82031710	C	T	82031710	3	4	235	1	0	0	0	0	1	0	0	0	12523	478	17	4	476	4	PRKG2	4	82031710	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	64178	82031710	109122566	377	117970											
LIN54	132660	broad.mit.edu	37	chr4	83891596	83891596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtctttgatggagttcCgggagtagactgtgaaagaa	14	4	1	4	rs149250571		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:83891596C>T	uc003hnx.3	-	4	1213	c.835G>A	c.(835-837)GGA>AGA	p.G279R	LIN54_uc003hnz.3_Missense_Mutation_p.G58R|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Intron|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.G58R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	279					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				GATGGAGTTCCGGGAGTAGAC	0.358													T	83891596	C	T	83891596	3	4	235	1	0	0	0	0	1	0	0	0	8809	661	23	1	1454	1	LIN54	4	83891596	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1859886	83891596	107262680	378	117971											
LIN54	132660	broad.mit.edu	37	chr4	83905318	83905318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttttttcttttacctgtActgtttttaactgttgggtc	6	9	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:83905318A>G	uc003hnx.3	-	2	1058	c.680T>C	c.(679-681)GTA>GCA	p.V227A	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.V227A|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	227					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				TTTTACCTGTACTGTTTTTAA	0.353													G	83905318	A	G	83905318	3	3	235	1	0	0	0	0	1	0	0	0	8809	391	14	3	1617	3	LIN54	4	83905318	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	13722	83905318	107248958	379	117972											
HPSE	10855	broad.mit.edu	37	chr4	84222192	84222192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaggatagggtaaccGcaagtacttggtgacattat	11	5	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:84222192G>A	uc003hoj.3	-	11	1492	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	HPSE_uc010ika.2_Missense_Mutation_p.R407W|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.R208W|HPSE_uc011cct.1_Missense_Mutation_p.R391W|HPSE_uc003hok.3_Missense_Mutation_p.R465W	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	465					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TAGGGTAACCGCAAGTACTTG	0.353													A	84222192	G	A	84222192	3	1	235	1	0	0	0	0	1	0	0	0	7344	1086	38	1	246	1	HPSE	4	84222192	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	316874	84222192	106932084	380	117973											
HSD17B11	51170	broad.mit.edu	37	chr4	88258505	88258505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaaactgccaggaaacGctcaggaaggatcctaaaag	9	8	1	0	rs148948833	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:88258505G>A	uc003hqp.2	-	7	1059	c.826C>T	c.(826-828)CGT>TGT	p.R276C		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	estradiol 17-beta-dehydrogenase 11	276					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			ovary(2)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		GCCAGGAAACGCTCAGGAAGG	0.294													A	88258505	G	A	88258505	3	1	235	1	0	0	0	0	1	0	0	0	7380	1087	38	1	80	1	HSD17B11	4	88258505	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4036313	88258505	102895771	381	117974											
HERC6	55008	broad.mit.edu	37	chr4	89326069	89326069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgggaaaaccctgccagaAataagccgaattagccagtc	9	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:89326069A>C	uc011cdi.1	+	9	1317	c.1134A>C	c.(1132-1134)GAA>GAC	p.E378D	HERC6_uc011cdj.1_Missense_Mutation_p.E378D|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	378					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCCTGCCAGAAATAAGCCGAA	0.423													C	89326069	A	C	89326069	3	2	235	1	0	0	0	0	1	0	0	0	7062	11	1	5	965	5	HERC6	4	89326069	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1067564	89326069	101828207	382	117975											
BMPR1B	658	broad.mit.edu	37	chr4	96069948	96069948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcgagttggcaccaaaCgctatatgcctccagaagtg	9	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:96069948C>T	uc003htm.3	+	11	1400	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	BMPR1B_uc010ilb.2_Missense_Mutation_p.R376C|BMPR1B_uc003htn.3_Missense_Mutation_p.R376C	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	376	Cytoplasmic (Potential).|Protein kinase.				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			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGGCACCAAACGCTATATGCC	0.418													T	96069948	C	T	96069948	3	4	235	1	0	0	0	0	1	0	0	0	1470	536	19	1	1156	1	BMPR1B	4	96069948	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6743879	96069948	95084328	383	117976											
UNC5C	8633	broad.mit.edu	37	chr4	96469892	96469892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacccccttaccttgggcGgcggagccagtgccgctggc	15	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:96469892G>A	uc003htp.1	-	1	271	c.117C>T	c.(115-117)GCC>GCT	p.A39A	UNC5C_uc010ilc.1_Silent_p.A39A|UNC5C_uc003htq.2_Silent_p.A39A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	39					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TACCTTGGGCGGCGGAGCCAG	0.527													A	96469892	G	A	96469892	2	1	235	1	0	0	0	0	0	0	0	1	16990	1103	39	1		1	UNC5C	4	96469892	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	399944	96469892	94684384	384	117977											
SLC39A8	64116	broad.mit.edu	37	chr4	103189153	103189153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggagggcatcgcagagCgttatcatccaggcaatcgt	13	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:103189153C>T	uc003hwb.1	-	6	1453	c.924G>A	c.(922-924)ACG>ACA	p.T308T	SLC39A8_uc011ceo.1_Silent_p.T308T|SLC39A8_uc003hwa.1_Silent_p.T241T|SLC39A8_uc003hwc.2_Silent_p.T308T	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	308	Helical; (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CATCGCAGAGCGTTATCATCC	0.478													T	103189153	C	T	103189153	2	4	235	1	0	0	0	0	0	0	0	1	14624	755	27	1		1	SLC39A8	4	103189153	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6719261	103189153	87965123	385	117978											
CFI	3426	broad.mit.edu	37	chr4	110667424	110667424	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcatgtatcattaggttgGaataggtaaggagaccaggg	14	4	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:110667424G>A	uc003hzr.3	-	11	1591	c.1383C>T	c.(1381-1383)TTC>TTT	p.F461F	CFI_uc003hzq.2_Silent_p.F258F|CFI_uc011cft.1_Silent_p.F469F|CFI_uc003hzs.3_Silent_p.F454F	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	461	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CATTAGGTTGGAATAGGTAAG	0.413													A	110667424	G	A	110667424	2	1	235	1	0	0	0	0	0	0	0	1	3289	1165	41	4		4	CFI	4	110667424	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7478271	110667424	80486852	386	117979											
EGF	1950	broad.mit.edu	37	chr4	110882030	110882030	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcattgtgcagatgttaaTgaatgtgctttttggaatca	10	4	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:110882030T>C	uc003hzy.3	+	7	1526	c.1074T>C	c.(1072-1074)AAT>AAC	p.N358N	EGF_uc011cfu.1_Silent_p.N316N|EGF_uc011cfv.1_Silent_p.N358N	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	358	EGF-like 2; calcium-binding (Potential).|Extracellular (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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAGATGTTAATGAATGTGCTT	0.398													C	110882030	T	C	110882030	2	2	235	1	0	0	0	0	0	0	0	1	4962	1461	51	3		3	EGF	4	110882030	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	214606	110882030	80272246	387	117980											
ALPK1	80216	broad.mit.edu	37	chr4	113351824	113351824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccatggggagacagggaCggtccatgcagcaagtcagc	15	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:113351824C>T	uc003iap.3	+	11	1400	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	ALPK1_uc003ian.3_Missense_Mutation_p.T374M|ALPK1_uc011cfx.1_Missense_Mutation_p.T296M|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.T202M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	374							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAGACAGGGACGGTCCATGCA	0.507													T	113351824	C	T	113351824	3	4	235	1	0	0	0	0	1	0	0	0	544	536	19	1	1155	1	ALPK1	4	113351824	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2469794	113351824	77802452	388	117981											
LARP7	51574	broad.mit.edu	37	chr4	113567544	113567545	+	Frame_Shift_Ins	INS	-	-	A													ttgtgtcttttaacaaaatgINSaaaaaattgactactgatgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:113567544_113567545insA	uc003iay.2	+	3	518_519	c.240_241insA	c.(238-243)ATGAAAfs	p.M80fs	LARP7_uc003iaz.2_Frame_Shift_Ins_p.M87fs|LARP7_uc003iba.2_Frame_Shift_Ins_p.M1fs|LARP7_uc003ibb.2_Frame_Shift_Ins_p.M80fs	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	80_81	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTAACAAAATGAAAAAATTGAC	0.287													A	113567545	-	A	113567544	7	5	235	1	0	1	1	0	0	0	0	0	8633	1290	45	0	246	0	LARP7	4	113567544	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	215720	113567544	77586732	389	117982	580	2									
LARP7	51574	broad.mit.edu	37	chr4	113567545	113567546	+	Frame_Shift_Ins	INS	-	-	A													tgtgtcttttaacaaaatgaINSaaaaattgactactgatggg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:113567544_113567545G>GA	uc003iaz.3	+	4	726_727	c.261_262G>GA	c.(259-264)atgaaafs	p.M87fs	LARP7_uc003iay.3_Frame_Shift_Ins_p.M80fs|LARP7_uc003iba.3_Frame_Shift_Ins_p.M1fs|LARP7_uc003ibb.3_Frame_Shift_Ins_p.M80fs	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	80	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	RNA binding|nucleotide binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTAACAAAATGAAAAAATTGAC	0.287													A	113567546	-	A	113567545	7	5	235	1	0	1	1	0	0	0	0	0	8633	247	9	0	247	0	LARP7	4	113567545	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	113567545	77586731	390	117983	580	2									
ANK2	287	broad.mit.edu	37	chr4	114199668	114199668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgacaaccagaaggtggCgctgctgttactggagaagg	14	7	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:114199668C>T	uc003ibe.3	+	17	1935	c.1835C>T	c.(1834-1836)GCG>GTG	p.A612V	ANK2_uc003ibd.3_Missense_Mutation_p.A591V|ANK2_uc003ibf.3_Missense_Mutation_p.A612V|ANK2_uc003ibc.2_Missense_Mutation_p.A588V|ANK2_uc011cgb.1_Missense_Mutation_p.A627V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	612	ANK 18.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAGGTGGCGCTGCTGTTA	0.478											OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	114199668	C	T	114199668	3	4	235	1	0	0	0	0	1	0	0	0	621	768	27	1	1926	1	ANK2	4	114199668	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	632123	114199668	76954608	391	117984											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-													tcccactccgttttctgttcTttttttagaagatctcgacc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					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						GTTTTCTGTTCTTTTTTTAGA	0.388													-	118005517	T	-	118005517	7	5	235	1	0	1	0	1	0	0	0	0	16449	1617	56	0	80	0	TRAM1L1	4	118005517	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	3805849	118005517	73148759	392	117985											
ADAD1	132612	broad.mit.edu	37	chr4	123342458	123342458	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggcaagtcggctttgTaaggctgcaatgttaagtcg	12	7	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:123342458T>C	uc003ieo.2	+	12	1762	c.1530T>C	c.(1528-1530)TGT>TGC	p.C510C	ADAD1_uc003iep.2_Silent_p.C499C|ADAD1_uc003ieq.2_Silent_p.C492C	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	510	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						GTCGGCTTTGTAAGGCTGCAA	0.343													C	123342458	T	C	123342458	2	2	235	1	0	0	0	0	0	0	0	1	231	1644	57	3		3	ADAD1	4	123342458	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	5336941	123342458	67811818	393	117986											
BBS12	166379	broad.mit.edu	37	chr4	123663986	123663986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttatgtttgacatttcAagaattttcacttgctgtct	5	8	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:123663986A>G	uc003ieu.2	+	2	1132	c.939A>G	c.(937-939)TCA>TCG	p.S313S		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	313					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						TTGACATTTCAAGAATTTTCA	0.383									Bardet-Biedl_syndrome				G	123663986	A	G	123663986	2	3	235	1	0	0	0	0	0	0	0	1	1337	117	5	3		3	BBS12	4	123663986	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	321528	123663986	67490290	394	117987											
PCDH10	57575	broad.mit.edu	37	chr4	134071394	134071394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcaggaacatggcactttCgtggggaatatcgctgaaga	14	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:134071394C>T	uc003iha.2	+	1	925	c.99C>T	c.(97-99)TTC>TTT	p.F33F	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.F33F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	33	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ATGGCACTTTCGTGGGGAATA	0.498													T	134071394	C	T	134071394	2	4	235	1	0	0	0	0	0	0	0	1	11507	883	31	1		1	PCDH10	4	134071394	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	10407408	134071394	57082882	395	117988											
PCDH10	57575	broad.mit.edu	37	chr4	134073108	134073108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctcacccgcgtggccGccgtggacgcggacgacggc	15	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:134073108G>A	uc003iha.2	+	1	2639	c.1813G>A	c.(1813-1815)GCC>ACC	p.A605T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A605T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	605	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGCGTGGCCGCCGTGGACGC	0.692													A	134073108	G	A	134073108	3	1	235	1	0	0	0	0	1	0	0	0	11507	1087	38	1	1815	1	PCDH10	4	134073108	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1714	134073108	57081168	396	117989											
USP38	84640	broad.mit.edu	37	chr4	144107096	144107096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaggggaaattgtccAtcacgttctgtcaacagctg	9	12	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:144107096A>G	uc003ijb.2	+	1	1027	c.493A>G	c.(493-495)ATC>GTC	p.I165V	USP38_uc003ija.3_Missense_Mutation_p.I165V|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	165					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GAAATTGTCCATCACGTTCTG	0.552													G	144107096	A	G	144107096	3	3	235	1	0	0	0	0	1	0	0	0	17066	217	8	3	495	3	USP38	4	144107096	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	10033988	144107096	47047180	397	117990											
USP38	84640	broad.mit.edu	37	chr4	144141531	144141531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatggatttgatgacaaCgacccaccaggaagctgtgg	11	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:144141531C>T	uc003ijb.2	+	10	3585	c.3051C>T	c.(3049-3051)AAC>AAT	p.N1017N	USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	1017					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					TTGATGACAACGACCCACCAG	0.478													T	144141531	C	T	144141531	2	4	235	1	0	0	0	0	0	0	0	1	17066	535	19	1		1	USP38	4	144141531	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	34435	144141531	47012745	398	117991											
SMARCA5	8467	broad.mit.edu	37	chr4	144467126	144467126	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcacaggcacaaaaagaaGaacagcttaaaattgatgaa	8	7	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:144467126G>A	uc003ijg.2	+	19	2908	c.2446G>A	c.(2446-2448)GAA>AAA	p.E816K		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	816					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			skin(1)	1	all_hematologic(180;0.158)					ACAAAAAGAAGAACAGCTTAA	0.358													A	144467126	G	A	144467126	3	1	235	1	0	0	0	0	1	0	0	0	14771	943	33	4	2520	4	SMARCA5	4	144467126	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	325595	144467126	46687150	399	117992											
HHIP	64399	broad.mit.edu	37	chr4	145567864	145567864	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctttaagctgctgctgctgGccgtggctctgggcttcttt	12	12	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:145567864G>C	uc003ijs.1	+	1	692	c.37G>C	c.(37-39)GCC>CCC	p.A13P	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.A13P	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	13						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCTGCTGCTGGCCGTGGCTCT	0.612											OREG0016346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	145567864	G	C	145567864	3	2	235	1	0	0	0	0	1	0	0	0	7092	1203	42	5	39	5	HHIP	4	145567864	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1100738	145567864	45586412	400	117993											
DCLK2	166614	broad.mit.edu	37	chr4	151119187	151119187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaagtcatcttattctcgatCctcagctgttaagtattctg	7	9	5	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:151119187C>A	uc003ilm.3	+	4	993	c.893C>A	c.(892-894)TCC>TAC	p.S298Y	DCLK2_uc003iln.3_Missense_Mutation_p.S298Y|DCLK2_uc003ilo.3_Missense_Mutation_p.S298Y|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	298	Ser-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					TATTCTCGATCCTCAGCTGTT	0.408													A	151119187	C	A	151119187	3	1	235	1	0	0	0	0	1	0	0	0	4292	855	30	5	907	5	DCLK2	4	151119187	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5551323	151119187	40035089	401	117994											
LRBA	987	broad.mit.edu	37	chr4	151770151	151770151	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatattttccagttcatgCtgtaaagaataaagtttgac	6	6	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:151770151C>T	uc010ipj.2	-	26	4633	c.4159_splice	c.e26-1	p.H1387_splice	LRBA_uc003ilt.3_Splice_Site_p.H46_splice|LRBA_uc003ilu.3_Splice_Site_p.H1387_splice	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCAGTTCATGCTGTAAAGAAT	0.299													T	151770151	C	T	151770151	5	4	235	1	0	0	0	0	0	0	1	0	8931	811	28	2	4565	2	LRBA	4	151770151	Splice_Site	SNP	C	TCGA-F1-6177-01A-11D-1800-08	650964	151770151	39384125	402	117995											
KIAA0922	23240	broad.mit.edu	37	chr4	154502038	154502038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagtttacataataaaGtgtgtcagcaattaaaggta	8	4	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:154502038G>A	uc003inm.3	+	8	773	c.721G>A	c.(721-723)GTG>ATG	p.V241M	KIAA0922_uc010ipp.2_Missense_Mutation_p.V241M|KIAA0922_uc010ipq.2_Missense_Mutation_p.V93M	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	241	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACATAATAAAGTGTGTCAGCA	0.313													A	154502038	G	A	154502038	3	1	235	1	0	0	0	0	1	0	0	0	8201	1029	36	4	751	4	KIAA0922	4	154502038	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2731887	154502038	36652238	403	117996											
FGB	2244	broad.mit.edu	37	chr4	155490691	155490691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattggcttggaaatgataaAattagccagcttaccaggat	9	6	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:155490691A>C	uc003ioa.3	+	7	1023	c.984A>C	c.(982-984)AAA>AAC	p.K328N	FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.K266N|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.K109N	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	328	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			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAATGATAAAATTAGCCAGC	0.363													C	155490691	A	C	155490691	3	2	235	1	0	0	0	0	1	0	0	0	5831	11	1	5	1010	5	FGB	4	155490691	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	988653	155490691	35663585	404	117997											
MAP9	79884	broad.mit.edu	37	chr4	156273869	156273869	+	Frame_Shift_Del	DEL	T	T	-													tttgcttgaaaaaagcttccTttttttcattcctatagagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:156273869delT	uc003ios.2	-	13	1964	c.1700delA	c.(1699-1701)AAGfs	p.K567fs	MAP9_uc011cin.1_Frame_Shift_Del_p.K542fs|MAP9_uc010iqa.1_RNA	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	567	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAAGCTTCCTTTTTTTCATT	0.189													-	156273869	T	-	156273869	7	5	235	1	0	1	0	1	0	0	0	0	9270	1609	56	0	251	0	MAP9	4	156273869	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	783178	156273869	34880407	405	117998											
FSTL5	56884	broad.mit.edu	37	chr4	162402250	162402250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacataaatgaacttgtcTttgacattaacagctgatgc	7	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:162402250T>G	uc003iqh.2	-	13	1966	c.1530A>C	c.(1528-1530)AAA>AAC	p.K510N	FSTL5_uc003iqi.2_Missense_Mutation_p.K509N|FSTL5_uc010iqv.2_Missense_Mutation_p.K500N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	510						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGAACTTGTCTTTGACATTAA	0.383													G	162402250	T	G	162402250	3	3	235	1	0	0	0	0	1	0	0	0	6080	1606	56	5	1029	5	FSTL5	4	162402250	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	6128381	162402250	28752026	406	117999											
DDX60L	91351	broad.mit.edu	37	chr4	169337880	169337880	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagctgaaagaaccaaaaaGggacatcgaataatgacaag	10	6	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:169337880G>T	uc003irq.3	-	20	2900	c.2679C>A	c.(2677-2679)CCC>CCA	p.P893P	DDX60L_uc003irr.1_Silent_p.P893P|DDX60L_uc003irs.1_Silent_p.P588P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	893	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAACCAAAAAGGGACATCGAA	0.343													T	169337880	G	T	169337880	2	4	235	1	0	0	0	0	0	0	0	1	4379	987	35	5		5	DDX60L	4	169337880	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6935630	169337880	21816396	407	118000											
NEIL3	55247	broad.mit.edu	37	chr4	178283483	178283483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgcaaccatggcaagcGttccaccatgaaaacagtat	7	11	1	1	rs149552701	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:178283483G>A	uc003iut.2	+	10	1793	c.1676G>A	c.(1675-1677)CGT>CAT	p.R559H		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	559					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			lung(2)|ovary(1)|central_nervous_system(1)	4		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)		CATGGCAAGCGTTCCACCATG	0.378								BER_DNA_glycosylases					A	178283483	G	A	178283483	3	1	235	1	0	0	0	0	1	0	0	0	10320	1145	40	1	1714	1	NEIL3	4	178283483	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	8945603	178283483	12870793	408	118001											
HELT	391723	broad.mit.edu	37	chr4	185941544	185941544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaggacacgaagtacgCgcgcatcctcgccttcttgc	10	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:185941544C>T	uc011ckq.1	+	4	602	c.602C>T	c.(601-603)GCG>GTG	p.A201V	HELT_uc011cko.1_Missense_Mutation_p.A116V|HELT_uc003ixa.3_Missense_Mutation_p.A115V|HELT_uc011ckp.1_Missense_Mutation_p.A59V	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	201	Orange.						DNA binding				0		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)		ACGAAGTACGCGCGCATCCTC	0.612													T	185941544	C	T	185941544	3	4	235	1	0	0	0	0	1	0	0	0	7048	768	27	1	616	1	HELT	4	185941544	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7658061	185941544	5212732	409	118002											
TRIML2	205860	broad.mit.edu	37	chr4	189012847	189012847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctccggaagctctggCcgtgctgcccttcgcgtctg	11	15	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr4:189012847C>T	uc003izl.2	-	7	880	c.844G>A	c.(844-846)GCC>ACC	p.A282T	TRIML2_uc003izj.1_Missense_Mutation_p.A110T|TRIML2_uc003izk.1_Missense_Mutation_p.A90T|TRIML2_uc011cle.1_Missense_Mutation_p.A357T	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	282	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		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)		GAAGCTCTGGCCGTGCTGCCC	0.597													T	189012847	C	T	189012847	3	4	235	1	0	0	0	0	1	0	0	0	16548	739	26	2	323	2	TRIML2	4	189012847	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3071303	189012847	2141429	410	118003											
BRD9	65980	broad.mit.edu	37	chr5	884073	884073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccgcctgggaggaaccGgttgatcctgtcccgagctt	13	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:884073G>A	uc003jbq.2	-	8	1113	c.946C>T	c.(946-948)CGG>TGG	p.R316W	BRD9_uc003jbl.2_Missense_Mutation_p.R200W|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.R263W|BRD9_uc003jbo.2_Missense_Mutation_p.R220W|BRD9_uc003jbp.2_5'Flank|BRD9_uc011cmc.1_RNA	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	316							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGGAGGAACCGGTTGATCCTG	0.637													A	884073	G	A	884073	3	1	235	1	0	0	0	0	1	0	0	0	1507	1115	39	1	883	1	BRD9	5	884073	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08		884073	180031187	411	118004											
SLC12A7	10723	broad.mit.edu	37	chr5	1076892	1076892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcagcagcagcgcccaCgtgggctccccgttggcctt	12	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:1076892C>T	uc003jbu.2	-	13	1731	c.1665G>A	c.(1663-1665)ACG>ACA	p.T555T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	555	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	GCAGCGCCCACGTGGGCTCCC	0.632													T	1076892	C	T	1076892	2	4	235	1	0	0	0	0	0	0	0	1	14388	523	19	1		1	SLC12A7	5	1076892	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	192819	1076892	179838368	412	118005											
SLC12A7	10723	broad.mit.edu	37	chr5	1081834	1081834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccacaaacgcccccgcGtgcgcgtacgtactccacag	8	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:1081834G>A	uc003jbu.2	-	9	1221	c.1155C>T	c.(1153-1155)CAC>CAT	p.H385H		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	385					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	ACGCCCCCGCGTGCGCGTACG	0.667													A	1081834	G	A	1081834	2	1	235	1	0	0	0	0	0	0	0	1	14388	1136	40	1		1	SLC12A7	5	1081834	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4942	1081834	179833426	413	118006											
IRX1	79192	broad.mit.edu	37	chr5	3599423	3599423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggcttattacccctacGgccagttccaatacggggac	10	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:3599423G>A	uc003jde.2	+	2	413	c.361G>A	c.(361-363)GGC>AGC	p.G121S		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						TTACCCCTACGGCCAGTTCCA	0.652													A	3599423	G	A	3599423	3	1	235	1	0	0	0	0	1	0	0	0	7843	1116	39	1	367	1	IRX1	5	3599423	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2517589	3599423	177315837	414	118007											
KIAA0947	23379	broad.mit.edu	37	chr5	5462807	5462807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagctgcagtgaggggagCgaacagcaagatgctcctga	14	8	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:5462807C>T	uc003jdm.3	+	13	3582	c.3360C>T	c.(3358-3360)AGC>AGT	p.S1120S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1120										ovary(1)|central_nervous_system(1)	2						GTGAGGGGAGCGAACAGCAAG	0.498													T	5462807	C	T	5462807	2	4	235	1	0	0	0	0	0	0	0	1	8202	767	27	1		1	KIAA0947	5	5462807	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1863384	5462807	175452453	415	118008											
MED10	84246	broad.mit.edu	37	chr5	6372636	6372636	+	Frame_Shift_Del	DEL	C	C	-													ttaagaaggcgggtgatcctCcccccggatgcttcgatact							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:6372636delC	uc003jdo.2	-	4	431	c.388delG	c.(388-390)GAGfs	p.E130fs		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	130					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(1)	1						GGGTGATCCTCCCCCCGGATG	0.498													-	6372636	C	-	6372636	7	5	235	1	0	1	0	1	0	0	0	0	9426	864	30	0	23	0	MED10	5	6372636	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	909829	6372636	174542624	416	118009											
CDH9	1007	broad.mit.edu	37	chr5	26885740	26885740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactaagcagtatgaggacaCagagtagaatcgcaacgaga	11	7	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:26885740C>T	uc003jgs.1	-	11	2034	c.1865G>A	c.(1864-1866)TGT>TAT	p.C622Y	CDH9_uc011cnv.1_Missense_Mutation_p.C215Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	622	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TATGAGGACACAGAGTAGAAT	0.493													T	26885740	C	T	26885740	3	4	235	1	0	0	0	0	1	0	0	0	3117	478	17	4	512	4	CDH9	5	26885740	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	20513104	26885740	154029520	417	118010											
NIPBL	25836	broad.mit.edu	37	chr5	37045566	37045566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatttcaaaattaaaaaGtcaacaccaagaggacccaa	5	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:37045566G>A	uc003jkl.3	+	37	6864	c.6365G>A	c.(6364-6366)AGT>AAT	p.S2122N	NIPBL_uc003jkk.3_Missense_Mutation_p.S2122N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2122					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			AAATTAAAAAGTCAACACCAA	0.308													A	37045566	G	A	37045566	3	1	235	1	0	0	0	0	1	0	0	0	10428	1029	36	4	6507	4	NIPBL	5	37045566	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10159826	37045566	143869694	418	118011											
C5orf42	65250	broad.mit.edu	37	chr5	37167150	37167150	+	Frame_Shift_Del	DEL	T	T	-													aatttcacttaagccttgccTttttttactgtcctttcctt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:37167150delT	uc011cpa.1	-	35	7630	c.7399delA	c.(7399-7401)AGGfs	p.R2467fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.R967fs|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Frame_Shift_Del_p.R1542fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2467										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGCCTTGCCTTTTTTTACTG	0.323													-	37167150	T	-	37167150	7	5	235	1	0	1	0	1	0	0	0	0	2301	1623	56	0	2266	0	C5orf42	5	37167150	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	121584	37167150	143748110	419	118012											
EGFLAM	133584	broad.mit.edu	37	chr5	38350644	38350644	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaggcactgaatatcgTgtgagcatagcagcttacag	10	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:38350644T>C	uc003jlc.1	+	4	657	c.333T>C	c.(331-333)CGT>CGC	p.R111R	EGFLAM_uc003jlb.1_Silent_p.R111R	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	111	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					CTGAATATCGTGTGAGCATAG	0.453													C	38350644	T	C	38350644	2	2	235	1	0	0	0	0	0	0	0	1	4966	1683	59	3		3	EGFLAM	5	38350644	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1183494	38350644	142564616	420	118013											
EGFLAM	133584	broad.mit.edu	37	chr5	38407192	38407192	+	Frame_Shift_Del	DEL	G	G	-													ctgtgtcaatgactacacctGggggggctcgcgatgccagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:38407192delG	uc003jlc.1	+	8	1415	c.1091delG	c.(1090-1092)TGGfs	p.W364fs	EGFLAM_uc003jlb.1_Frame_Shift_Del_p.W364fs|EGFLAM_uc003jle.1_Frame_Shift_Del_p.W130fs|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GACTACACCTGGGGGGGCTCG	0.547													-	38407192	G	-	38407192	7	5	235	1	0	1	0	1	0	0	0	0	4966	1357	47	0	1135	0	EGFLAM	5	38407192	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	56548	38407192	142508068	421	118014											
HEATR7B2	133558	broad.mit.edu	37	chr5	40999840	40999841	+	Frame_Shift_Ins	INS	-	-	GT													tggtgaagaaggtgaaggagINStgtgtgtggaggatccacag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:40999839_40999840A>AGT	uc003jmj.4	-	39	5014_5015	c.4524_4525T>ACT	c.(4522-4527)cactccfs	p.H1508fs	HEATR7B2_uc003jmi.4_Frame_Shift_Ins_p.H1063fs	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1508							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AAGGTGAAGGAGTGTGTGTGGA	0.475													GT	40999841	-	GT	40999840	7	5	235	1	0	1	1	0	0	0	0	0	7035	1020	36	0	245	0	HEATR7B2	5	40999840	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2592648	40999840	139915420	422	118015											
PLCXD3	345557	broad.mit.edu	37	chr5	41382192	41382192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagtccttctcccacaggTactttaaactaacttcctgg	6	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:41382192T>C	uc003jmm.1	-	2	650	c.548A>G	c.(547-549)TAC>TGC	p.Y183C		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	183	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						CTCCCACAGGTACTTTAAACT	0.468													C	41382192	T	C	41382192	3	2	235	1	0	0	0	0	1	0	0	0	12043	1638	57	3	425	3	PLCXD3	5	41382192	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	382352	41382192	139533068	423	118016											
MGC42105	167359	broad.mit.edu	37	chr5	43280659	43280659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccaagggagagatgctcGcagctcaatcacaggggtct	12	10	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:43280659G>A	uc003jno.2	+	4	2020	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	380							ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						AGAGATGCTCGCAGCTCAATC	0.418													A	43280659	G	A	43280659	3	1	235	1	0	0	0	0	1	0	0	0	9552	1087	38	1	1149	1	MGC42105	5	43280659	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1898467	43280659	137634601	424	118017											
FGF10	2255	broad.mit.edu	37	chr5	44388639	44388639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaagaagagttggtgGcctctggtgacaccatgtcc	15	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:44388639G>A	uc003jog.1	-	1	146	c.146C>T	c.(145-147)GCC>GTC	p.A49V		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	49					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					AGAGTTGGTGGCCTCTGGTGA	0.572													A	44388639	G	A	44388639	3	1	235	1	0	0	0	0	1	0	0	0	5839	1203	42	2	492	2	FGF10	5	44388639	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1107980	44388639	136526621	425	118018											
HCN1	348980	broad.mit.edu	37	chr5	45645327	45645327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctaattaaccttgaaagtCgtaataaacgcaagagactg	7	7	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:45645327C>T	uc003jok.2	-	2	834	c.809G>A	c.(808-810)CGA>CAA	p.R270Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	270	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CCTTGAAAGTCGTAATAAACG	0.328													T	45645327	C	T	45645327	3	4	235	1	0	0	0	0	1	0	0	0	6996	884	31	1	1891	1	HCN1	5	45645327	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1256688	45645327	135269933	426	118019											
PARP8	79668	broad.mit.edu	37	chr5	50059056	50059056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttagagagatatatggGccacatgcagtttctctcag	11	8	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:50059056G>A	uc003jon.3	+	8	680	c.498G>A	c.(496-498)GGG>GGA	p.G166G	PARP8_uc011cpz.1_Silent_p.G58G|PARP8_uc003joo.2_Silent_p.G166G|PARP8_uc003jop.2_Silent_p.G166G	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	166						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				AGATATATGGGCCACATGCAG	0.353													A	50059056	G	A	50059056	2	1	235	1	0	0	0	0	0	0	0	1	11465	1190	42	2		2	PARP8	5	50059056	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4413729	50059056	130856204	427	118020											
IL6ST	3572	broad.mit.edu	37	chr5	55247315	55247315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttggggtagtaaaagtgAattctggaccatccttccca	9	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:55247315A>G	uc003jqq.2	-	14	2072	c.1817T>C	c.(1816-1818)TTC>TCC	p.F606S	IL6ST_uc010iwb.2_Missense_Mutation_p.F545S|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.F317S|IL6ST_uc003jqr.2_3'UTR|IL6ST_uc010iwe.1_RNA	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	606	Extracellular (Potential).|Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTAAAAGTGAATTCTGGACC	0.358			O		hepatocellular ca								G	55247315	A	G	55247315	3	3	235	1	0	0	0	0	1	0	0	0	7703	246	9	3	955	3	IL6ST	5	55247315	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	5188259	55247315	125667945	428	118021											
DEPDC1B	55789	broad.mit.edu	37	chr5	59982801	59982801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattacctgtataagtgaCgattgtcttcaaaatcttcc	6	10	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:59982801C>T	uc003jsh.2	-	2	375	c.302G>A	c.(301-303)CGT>CAT	p.R101H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R101H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R74H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	101	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTATAAGTGACGATTGTCTTC	0.428													T	59982801	C	T	59982801	3	4	235	1	0	0	0	0	1	0	0	0	4440	536	19	1	1327	1	DEPDC1B	5	59982801	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4735486	59982801	120932459	429	118022											
MAST4	375449	broad.mit.edu	37	chr5	66430427	66430427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagccggtggactggtgggCcatggggattatcctctatg	15	8	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:66430427C>T	uc003jut.1	+	17	1804	c.1736C>T	c.(1735-1737)GCC>GTC	p.A579V	MAST4_uc003juu.1_Missense_Mutation_p.A589V|MAST4_uc011cra.1_Missense_Mutation_p.A562V|MAST4_uc003juv.2_Missense_Mutation_p.A574V|MAST4_uc003juw.2_Missense_Mutation_p.A574V	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	771	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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)		GACTGGTGGGCCATGGGGATT	0.448													T	66430427	C	T	66430427	3	4	235	1	0	0	0	0	1	0	0	0	9327	739	26	2	2503	2	MAST4	5	66430427	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6447626	66430427	114484833	430	118023											
PIK3R1	5295	broad.mit.edu	37	chr5	67522741	67522741	+	Frame_Shift_Del	DEL	A	A	-													acgtagaatatattggaaggAaaaaaatctcgcctcccaca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:67522741delA	uc003jva.2	+	2	798	c.238delA	c.(238-240)AAAfs	p.K80fs	PIK3R1_uc003jvb.2_Frame_Shift_Del_p.K80fs	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	80					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			endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		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)	TATTGGAAGGAAAAAAATCTC	0.493			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			-	67522741	A	-	67522741	7	5	235	1	0	1	0	1	0	0	0	0	11918	247	9	0	240	0	PIK3R1	5	67522741	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1092314	67522741	113392519	431	118024											
MAP1B	4131	broad.mit.edu	37	chr5	71491610	71491610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacagcagctgtcatgGcggcagctggaatagcagcc	12	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:71491610G>A	uc003kbw.3	+	5	2669	c.2428G>A	c.(2428-2430)GCG>ACG	p.A810T	MAP1B_uc010iyw.1_Missense_Mutation_p.A827T|MAP1B_uc010iyx.1_Missense_Mutation_p.A684T|MAP1B_uc010iyy.1_Missense_Mutation_p.A684T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	810						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		AGCTGTCATGGCGGCAGCTGG	0.527													A	71491610	G	A	71491610	3	1	235	1	0	0	0	0	1	0	0	0	9228	1203	42	2	2446	2	MAP1B	5	71491610	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3968869	71491610	109423650	432	118025											
ZNF366	167465	broad.mit.edu	37	chr5	71756601	71756601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccacgtccacgtagtaGctgtcatcgatctgcacgtt	9	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:71756601G>A	uc003kce.1	-	2	909	c.723C>T	c.(721-723)AGC>AGT	p.S241S		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCACGTAGTAGCTGTCATCGA	0.637													A	71756601	G	A	71756601	2	1	235	1	0	0	0	0	0	0	0	1	17867	962	34	2		2	ZNF366	5	71756601	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	264991	71756601	109158659	433	118026											
POLK	51426	broad.mit.edu	37	chr5	74892070	74892070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcggatatctagttttcccAatgaagaggacaggaaacac	9	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:74892070A>G	uc003kdw.2	+	13	1648	c.1552A>G	c.(1552-1554)AAT>GAT	p.N518D	POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.N320D|POLK_uc003kec.2_Missense_Mutation_p.N428D|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.N428D	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	518					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		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)		TAGTTTTCCCAATGAAGAGGA	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	74892070	A	G	74892070	3	3	235	1	0	0	0	0	1	0	0	0	12204	130	5	3	1598	3	POLK	5	74892070	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	3135469	74892070	106023190	434	118027											
ZFYVE16	9765	broad.mit.edu	37	chr5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttaatattgatgaaggcGcaaaaagtggcccactaatt	8	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:79734068G>A	uc003kgr.3	+	4	1866	c.1564G>A	c.(1564-1566)GCA>ACA	p.A522T	ZFYVE16_uc010jak.1_Missense_Mutation_p.A522T|ZFYVE16_uc003kgp.2_Missense_Mutation_p.A522T|ZFYVE16_uc003kgq.3_Missense_Mutation_p.A522T|ZFYVE16_uc003kgs.3_Missense_Mutation_p.A522T	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					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				0		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)		TGATGAAGGCGCAAAAAGTGG	0.353													A	79734068	G	A	79734068	3	1	235	1	0	0	0	0	1	0	0	0	17661	1087	38	1	1570	1	ZFYVE16	5	79734068	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4841998	79734068	101181192	435	118028											
XRCC4	7518	broad.mit.edu	37	chr5	82491728	82491728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaatgaaaggcttcTgagagattggaatgatgttc	12	3	1	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:82491728T>C	uc003kib.2	+	4	583	c.455T>C	c.(454-456)CTG>CCG	p.L152P	XRCC4_uc003kia.1_Missense_Mutation_p.L152P|XRCC4_uc003kid.2_Missense_Mutation_p.L152P|XRCC4_uc003kic.2_Missense_Mutation_p.L152P|XRCC4_uc003kie.2_Missense_Mutation_p.L152P|XRCC4_uc003kif.1_Missense_Mutation_p.L152P	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	152	Potential.				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		GAAAGGCTTCTGAGAGATTGG	0.378								NHEJ					C	82491728	T	C	82491728	3	2	235	1	0	0	0	0	1	0	0	0	17452	1580	55	3	465	3	XRCC4	5	82491728	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	2757660	82491728	98423532	436	118029											
HAPLN1	1404	broad.mit.edu	37	chr5	82937478	82937478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccgcatcacagcggtcaTatccgagaattttccaggca	9	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:82937478T>C	uc003kim.2	-	4	973	c.902A>G	c.(901-903)TAT>TGT	p.Y301C	HAPLN1_uc003kin.2_Missense_Mutation_p.Y301C	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	301	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		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)		ACAGCGGTCATATCCGAGAAT	0.547													C	82937478	T	C	82937478	3	2	235	1	0	0	0	0	1	0	0	0	6954	1406	49	3	166	3	HAPLN1	5	82937478	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	445750	82937478	97977782	437	118030											
GPR98	84059	broad.mit.edu	37	chr5	89990228	89990228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcatgaacatttcagCcagtttgaaaaatcagccaa	5	11	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:89990228C>T	uc003kju.2	+	33	7751	c.7655C>T	c.(7654-7656)GCC>GTC	p.A2552V	GPR98_uc003kjt.2_Missense_Mutation_p.A258V|GPR98_uc003kjv.2_Missense_Mutation_p.A152V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2552	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		AACATTTCAGCCAGTTTGAAA	0.383													T	89990228	C	T	89990228	3	4	235	1	0	0	0	0	1	0	0	0	6721	739	26	2	7785	2	GPR98	5	89990228	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7052750	89990228	90925032	438	118031											
ARRDC3	57561	broad.mit.edu	37	chr5	90672541	90672541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaattcggctttcacccaaTagcgcacactgccatgtcgg	9	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:90672541T>C	uc003kjz.2	-	3	647	c.407A>G	c.(406-408)TAT>TGT	p.Y136C		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	136					signal transduction	cytoplasm	protein binding			ovary(1)|breast(1)	2		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTTCACCCAATAGCGCACACT	0.388													C	90672541	T	C	90672541	3	2	235	1	0	0	0	0	1	0	0	0	984	1406	49	3	861	3	ARRDC3	5	90672541	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	682313	90672541	90242719	439	118032											
RHOBTB3	22836	broad.mit.edu	37	chr5	95119538	95119538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtctcctgatctgtgcCgagatgtaccaagtgtccag	11	10	2	2	rs150008155		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:95119538C>T	uc003klm.2	+	10	2031	c.1494C>T	c.(1492-1494)GCC>GCT	p.A498A		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	498	Interaction with Rab9.			A->T: Abolishes interaction with RAB9A.	retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		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)		TGATCTGTGCCGAGATGTACC	0.473													T	95119538	C	T	95119538	2	4	235	1	0	0	0	0	0	0	0	1	13335	639	23	1		1	RHOBTB3	5	95119538	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4446997	95119538	85795722	440	118033											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834536	101834536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccagagtgccgggcgaCgcctacgaacatggctcacc	12	16	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:101834536C>T	uc003knn.2	-	1	185	c.13G>A	c.(13-15)GTC>ATC	p.V5I	SLCO6A1_uc003kno.2_Missense_Mutation_p.V5I|SLCO6A1_uc003knp.2_Missense_Mutation_p.V5I|SLCO6A1_uc003knq.2_Missense_Mutation_p.V5I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	5	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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													T	101834536	C	T	101834536	3	4	235	1	0	0	0	0	1	0	0	0	14732	536	19	1	2198	1	SLCO6A1	5	101834536	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6714998	101834536	79080724	441	118034											
SLC25A46	91137	broad.mit.edu	37	chr5	110096961	110096961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaaagaaggaattggaAgagtgataggcatgggagtg	17	1	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:110096961A>G	uc003koz.2	+	8	803	c.736A>G	c.(736-738)AGA>GGA	p.R246G	SLC25A46_uc011cvi.1_Missense_Mutation_p.R155G	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	246					transport	integral to membrane|mitochondrial inner membrane					0		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)		AGGAATTGGAAGAGTGATAGG	0.378													G	110096961	A	G	110096961	3	3	235	1	0	0	0	0	1	0	0	0	14511	64	3	3	766	3	SLC25A46	5	110096961	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	8262425	110096961	70818299	442	118035											
COMMD10	51397	broad.mit.edu	37	chr5	115426820	115426820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagaaaaacttcaagcGgcattttctctagagaaaca	9	7	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:115426820G>A	uc003krt.1	+	3	200	c.177G>A	c.(175-177)GCG>GCA	p.A59A		NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	59							protein binding			ovary(1)	1		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		AACTTCAAGCGGCATTTTCTC	0.313													A	115426820	G	A	115426820	2	1	235	1	0	0	0	0	0	0	0	1	3715	1103	39	1		1	COMMD10	5	115426820	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5329859	115426820	65488440	443	118036											
DMXL1	1657	broad.mit.edu	37	chr5	118500337	118500337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtggggtggtgggtccGgaatacccgcatcttacgca	17	9	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:118500337G>A	uc003ksd.2	+	20	5019	c.4838G>A	c.(4837-4839)CGG>CAG	p.R1613Q	DMXL1_uc010jcl.1_Missense_Mutation_p.R1613Q	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1613										ovary(2)	2		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)		TGGTGGGTCCGGAATACCCGC	0.408													A	118500337	G	A	118500337	3	1	235	1	0	0	0	0	1	0	0	0	4594	1116	39	1	4916	1	DMXL1	5	118500337	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3073517	118500337	62414923	444	118037											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926143	122926144	+	Frame_Shift_Ins	INS	-	-	T													cgttatgtaagaaggctagaINStttttttgaaaaaccagact							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:122926143_122926144insT	uc003ktm.2	+	9	1600_1601	c.881_882insT	c.(880-882)GATfs	p.D294fs	CSNK1G3_uc003ktl.2_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003ktn.2_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003kto.2_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc011cwr.1_Frame_Shift_Ins_p.D219fs|CSNK1G3_uc011cws.1_Frame_Shift_Ins_p.D182fs|CSNK1G3_uc010jda.2_Frame_Shift_Ins_p.D295fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	294	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGAAGGCTAGATTTTTTTGAAA	0.262													T	122926144	-	T	122926143	7	5	235	1	0	1	1	0	0	0	0	0	3956	333	12	0	911	0	CSNK1G3	5	122926143	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	4425806	122926143	57989117	445	118038	581	2									
CSNK1G3	1456	broad.mit.edu	37	chr5	122926144	122926145	+	Frame_Shift_Ins	INS	-	-	T													gttatgtaagaaggctagatINSttttttgaaaaaccagacta							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:122926143_122926144A>AT	uc003ktm.3	+	8	1600_1601	c.881_882A>AT	c.(880-882)gatfs	p.D294fs	CSNK1G3_uc003ktl.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003ktn.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003kto.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc011cwr.2_Frame_Shift_Ins_p.D219fs|CSNK1G3_uc011cws.2_Frame_Shift_Ins_p.D182fs|CSNK1G3_uc010jda.3_Frame_Shift_Ins_p.D295fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	294	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.D294A(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGAAGGCTAGATTTTTTTGAAA	0.262													T	122926145	-	T	122926144	7	5	235	1	0	1	1	0	0	0	0	0	3956	1490	52	0	912	0	CSNK1G3	5	122926144	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	122926144	57989116	446	118039	581	2									
FBN2	2201	broad.mit.edu	37	chr5	127681104	127681104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttagcaaagccagccccGcgggggcacagcgtctcgta	14	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:127681104G>A	uc003kuu.2	-	24	3601	c.3162C>T	c.(3160-3162)CGC>CGT	p.R1054R	FBN2_uc003kuv.2_Silent_p.R1021R	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1054					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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		AGCCAGCCCCGCGGGGGCACA	0.617													A	127681104	G	A	127681104	2	1	235	1	0	0	0	0	0	0	0	1	5703	1074	38	1		1	FBN2	5	127681104	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4754960	127681104	53234156	447	118040											
C5orf20	140947	broad.mit.edu	37	chr5	134782379	134782379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagactgtgtgaactgtgaaCgggtagagtctgaaactaca	13	6	1	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:134782379C>T	uc003lav.2	-	1	660	c.420G>A	c.(418-420)CCG>CCA	p.P140P		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	140						nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACTGTGAACGGGTAGAGTC	0.517													T	134782379	C	T	134782379	2	4	235	1	0	0	0	0	0	0	0	1	2284	523	19	1		1	C5orf20	5	134782379	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7101275	134782379	46132881	448	118041											
TRPC7	57113	broad.mit.edu	37	chr5	135610472	135610473	+	Frame_Shift_Ins	INS	-	-	T													gttgacgtaagcctgagagaINSttttcataccacatggtaag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:135610472_135610473insT	uc003lbn.1	-	3	1016_1017	c.1013_1014insA	c.(1012-1014)AATfs	p.N338fs	TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Frame_Shift_Ins_p.N269fs|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	339	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCTGAGAGATTTTCATACCA	0.406													T	135610473	-	T	135610472	7	5	235	1	0	1	1	0	0	0	0	0	16581	330	12	0	1607	0	TRPC7	5	135610472	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	828093	135610472	45304788	449	118042											
MYOT	9499	broad.mit.edu	37	chr5	137206445	137206448	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													tccagcttctctagccagacCaaacagtcttccattatcat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:137206445_137206448delCAAA	uc011cye.1	+	2	122_125	c.105_108delCAAA	c.(103-108)ACCAAAfs	p.T35fs	MYOT_uc003lbv.2_Frame_Shift_Del_p.T35fs|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	35_36					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAGCCAGACCAAACAGTCTTCCA	0.505													-	137206448	CAAA	-	137206445	7	5	235	1	0	1	0	1	0	0	0	0	10094	581	21	0	107	0	MYOT	5	137206445	Frame_Shift_Del	DEL	CAAA	TCGA-F1-6177-01A-11D-1800-08	1595973	137206445	43708815	450	118043											
KIF20A	10112	broad.mit.edu	37	chr5	137520324	137520324	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagacacaggccttgatgatGatattgaaaatgaagctgac	10	7	0	7			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:137520324G>A	uc003lcj.2	+	13	2138	c.1642G>A	c.(1642-1644)GAT>AAT	p.D548N	KIF20A_uc011cyo.1_Missense_Mutation_p.D530N	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	548					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCTTGATGATGATATTGAAAA	0.448													A	137520324	G	A	137520324	3	1	235	1	0	0	0	0	1	0	0	0	8286	1290	45	4	1688	4	KIF20A	5	137520324	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	313879	137520324	43394936	451	118044											
PCDHA9	9752	broad.mit.edu	37	chr5	140229215	140229215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtgtgatcgacctagacGcagatgccaacgggcaggtt	13	9	0	3	rs151053430	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140229215G>A	uc003lhu.2	+	1	1859	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A379T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	379	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCTAGACGCAGATGCCAA	0.532													A	140229215	G	A	140229215	3	1	235	1	0	0	0	0	1	0	0	0	11531	1087	38	1	1137	1	PCDHA9	5	140229215	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2708891	140229215	40686045	452	118045											
PCDHA10	56139	broad.mit.edu	37	chr5	140237471	140237471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtatgaattgcagtcggCggcggttggtgcacgcatcc	15	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140237471C>T	uc003lhx.2	+	1	1838	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A613V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	613	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGTCGGCGGCGGTTGGT	0.642													T	140237471	C	T	140237471	3	4	235	1	0	0	0	0	1	0	0	0	11520	768	27	1	1840	1	PCDHA10	5	140237471	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	8256	140237471	40677789	453	118046											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346986	140346986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcttgagctggtgctgcGtaagggcctagaccgggagc	17	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140346986G>A	uc003lii.2	+	1	875	c.635G>A	c.(634-636)CGT>CAT	p.R212H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R212H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	212	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGTAAGGGCCTA	0.617													A	140346986	G	A	140346986	3	1	235	1	0	0	0	0	1	0	0	0	11533	1145	40	1	637	1	PCDHAC2	5	140346986	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	109515	140346986	40568274	454	118047											
PCDHB4	56131	broad.mit.edu	37	chr5	140502701	140502701	+	Frame_Shift_Del	DEL	C	C	-													ccgaattcgagatagagattCcggagaaaatggaaagatga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140502701delC	uc003lip.1	+	1	1121	c.1121delC	c.(1120-1122)TCCfs	p.S374fs		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	374	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAGAGATTCCGGAGAAAAT	0.408													-	140502701	C	-	140502701	7	5	235	1	0	1	0	1	0	0	0	0	11544	855	30	0	1123	0	PCDHB4	5	140502701	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	155715	140502701	40412559	455	118048											
PCDHB8	56128	broad.mit.edu	37	chr5	140559234	140559234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcagaccgcggctcccCggctttgagcagcgaggcgc	14	16	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140559234C>T	uc011dai.1	+	1	1805	c.1619C>T	c.(1618-1620)CCG>CTG	p.P540L	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	540	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGCTCCCCGGCTTTGAGC	0.672													T	140559234	C	T	140559234	3	4	235	1	0	0	0	0	1	0	0	0	11548	652	23	1	1621	1	PCDHB8	5	140559234	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	56533	140559234	40356026	456	118049											
PCDHB9	56127	broad.mit.edu	37	chr5	140567405	140567405	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagtatccaaaactacacGatcagctccaactctttttt	3	12	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140567405G>A	uc003liw.1	+	1	513	c.513G>A	c.(511-513)ACG>ACA	p.T171T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	171	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTACACGATCAGCTCCA	0.408													A	140567405	G	A	140567405	2	1	235	1	0	0	0	0	0	0	0	1	11549	1045	37	1		1	PCDHB9	5	140567405	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	8171	140567405	40347855	457	118050											
PCDHB12	56124	broad.mit.edu	37	chr5	140589805	140589805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacataaccgtgctggtctcCgacgtcaatgacaacgcccc	8	15	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140589805C>T	uc003liz.2	+	1	1515	c.1326C>T	c.(1324-1326)TCC>TCT	p.S442S	PCDHB12_uc011dak.1_Silent_p.S105S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	442	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCTCCGACGTCAATG	0.597													T	140589805	C	T	140589805	2	4	235	1	0	0	0	0	0	0	0	1	11537	639	23	1		1	PCDHB12	5	140589805	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	22400	140589805	40325455	458	118051											
PCDHGA5	56110	broad.mit.edu	37	chr5	140743963	140743963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatgctcctggggacGctgtgcgagccaggatccgg	14	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140743963G>A	uc003lju.1	+	1	66	c.66G>A	c.(64-66)ACG>ACA	p.T22T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.T22T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGGGACGCTGTGCGAGC	0.617													A	140743963	G	A	140743963	2	1	235	1	0	0	0	0	0	0	0	1	11557	1074	38	1		1	PCDHGA5	5	140743963	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	154158	140743963	40171297	459	118052											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745966	140745966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaggatctggacctcaCactctatcttgtggtggcag	11	12	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140745966C>T	uc003lju.1	+	1	2069	c.2069C>T	c.(2068-2070)ACA>ATA	p.T690I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.T690I	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	690	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACCTCACACTCTATCTT	0.597													T	140745966	C	T	140745966	3	4	235	1	0	0	0	0	1	0	0	0	11557	478	17	4	2071	4	PCDHGA5	5	140745966	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2003	140745966	40169294	460	118053											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763024	140763024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgtgcaaagtggagaCgatgaaactaagtacccgga	13	8	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140763024C>T	uc003lka.1	+	1	558	c.558C>T	c.(556-558)GAC>GAT	p.D186D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.D186D	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	186	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGGAGACGATGAAACTA	0.612													T	140763024	C	T	140763024	2	4	235	1	0	0	0	0	0	0	0	1	11559	535	19	1		1	PCDHGA7	5	140763024	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	17058	140763024	40152236	461	118054											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctactcagtctacatcGctgagaacaaccccagaggg	8	14	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140763850G>A	uc003lka.1	+	1	1384	c.1384G>A	c.(1384-1386)GCT>ACT	p.A462T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A462T	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	462	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTACATCGCTGAGAACAA	0.522													A	140763850	G	A	140763850	3	1	235	1	0	0	0	0	1	0	0	0	11559	1087	38	1	1386	1	PCDHGA7	5	140763850	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	826	140763850	40151410	462	118055											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779486	140779486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagactcaggacacaacGcctggctgtcctaccacgtg	10	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:140779486G>A	uc003lkf.1	+	1	1792	c.1792G>A	c.(1792-1794)GCC>ACC	p.A598T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A598T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACACAACGCCTGGCTGTC	0.677													A	140779486	G	A	140779486	3	1	235	1	0	0	0	0	1	0	0	0	11566	1087	38	1	1794	1	PCDHGB5	5	140779486	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	15636	140779486	40135774	463	118056											
SPINK7	84651	broad.mit.edu	37	chr5	147692956	147692956	+	Frame_Shift_Del	DEL	A	A	-													gaagctgctagtctgtctccAaaaaaagtaagtatgttgaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:147692955_147692955CA>C	uc003lpd.3	+	1	137	c.80_80CA>C	c.(79-81)ccafs	p.P27fs	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	27	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTGTCTCCAAAAAAAGTA	0.274													-	147692956	A	-	147692956	7	5	235	1	0	1	0	1	0	0	0	0	15063	117	5	0	87	0	SPINK7	5	147692956	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	6913470	147692956	33222304	464	118057											
FBXO38	81545	broad.mit.edu	37	chr5	147782052	147782052	+	Frame_Shift_Del	DEL	A	A	-													tgaaaattcctataggagccAaaattcaaactttacattta							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:147782052delA	uc003lpf.1	+	5	688	c.568delA	c.(568-570)AAAfs	p.K190fs	FBXO38_uc003lpg.1_Frame_Shift_Del_p.K190fs|FBXO38_uc003lph.2_Frame_Shift_Del_p.K190fs	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	190						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATAGGAGCCAAAATTCAAAC	0.333													-	147782052	A	-	147782052	7	5	235	1	0	1	0	1	0	0	0	0	5746	131	5	0	582	0	FBXO38	5	147782052	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	89096	147782052	33133208	465	118058											
SH3TC2	79628	broad.mit.edu	37	chr5	148407373	148407373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctaggctcaggagcaagCggatggccagaaagcaggcc	16	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:148407373C>T	uc003lpu.2	-	11	2074	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.R285H|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.R188H|SH3TC2_uc010jgx.2_Missense_Mutation_p.R634H|SH3TC2_uc003lpv.1_Missense_Mutation_p.R188H|SH3TC2_uc011dbz.1_Missense_Mutation_p.R526H	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	641							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGCAAGCGGATGGCCAG	0.667													T	148407373	C	T	148407373	3	4	235	1	0	0	0	0	1	0	0	0	14262	768	27	1	1972	1	SH3TC2	5	148407373	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	625321	148407373	32507887	466	118059											
FAT2	2196	broad.mit.edu	37	chr5	150905459	150905459	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaaacgagtagggggggCcattctctggagaatctggg	16	7	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:150905459C>G	uc003lue.3	-	17	10389	c.10376G>C	c.(10375-10377)GGC>GCC	p.G3459A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.G152A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3459	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGGGGGGGCCATTCTCTGG	0.577													G	150905459	C	G	150905459	3	3	235	1	0	0	0	0	1	0	0	0	5690	739	26	5	2701	5	FAT2	5	150905459	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2498086	150905459	30009801	467	118060											
NIPAL4	348938	broad.mit.edu	37	chr5	156899809	156899809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagacctggacatcagctgCgccagcttgccccacatgca	9	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:156899809C>T	uc003lwx.3	+	6	1358	c.1242C>T	c.(1240-1242)TGC>TGT	p.C414C	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.C395C	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	414	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						ACATCAGCTGCGCCAGCTTGC	0.542													T	156899809	C	T	156899809	2	4	235	1	0	0	0	0	0	0	0	1	10427	776	27	1		1	NIPAL4	5	156899809	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5994350	156899809	24015451	468	118061											
TLX3	30012	broad.mit.edu	37	chr5	170736618	170736618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgaacctgagcctagcGcccgcaggcgtgatccgggt	15	12	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:170736618G>A	uc003mbf.2	+	1	331	c.249G>A	c.(247-249)GCG>GCA	p.A83A	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	83						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGCCTAGCGCCCGCAGGCG	0.741			T	BCL11B	T-ALL								A	170736618	G	A	170736618	2	1	235	1	0	0	0	0	0	0	0	1	15959	1074	38	1		1	TLX3	5	170736618	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	13836809	170736618	10178642	469	118062											
LMAN2	10960	broad.mit.edu	37	chr5	176759221	176759221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaggggcccgctgcggaAgttccccgtggggtcgtcca	16	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:176759221A>C	uc003mge.2	-	8	1174	c.937T>G	c.(937-939)TTC>GTC	p.F313V	LMAN2_uc003mgd.2_Silent_p.T320T	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	313	Lumenal (Potential).				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	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)			CCGCTGCGGAAGTTCCCCGTG	0.697													C	176759221	A	C	176759221	3	2	235	1	0	0	0	0	1	0	0	0	8838	72	3	5	137	5	LMAN2	5	176759221	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	6022603	176759221	4156039	470	118063											
DBN1	1627	broad.mit.edu	37	chr5	176886118	176886118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggctggtgggggtggCggtggcagtggtggaggctg	24	6	0	0	rs139033012		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:176886118C>T	uc003mgy.2	-	11	1279	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	DBN1_uc011dga.1_Silent_p.P101P|DBN1_uc003mgx.2_Silent_p.P371P|DBN1_uc010jkn.1_Silent_p.P319P|DBN1_uc003mgz.1_Silent_p.P352P	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	369					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	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)			GTGGGGGTGGCGGTGGCAGTG	0.662													T	176886118	C	T	176886118	2	4	235	1	0	0	0	0	0	0	0	1	4252	755	27	1		1	DBN1	5	176886118	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	126897	176886118	4029142	471	118064											
TBC1D9B	23061	broad.mit.edu	37	chr5	179315143	179315143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggctttcctgctcccgAtactgcctggctgcttggat	10	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:179315143A>G	uc003mlh.2	-	7	1251	c.1214T>C	c.(1213-1215)ATC>ACC	p.I405T	TBC1D9B_uc003mli.2_Missense_Mutation_p.I405T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.I405T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	405						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)			CCTGCTCCCGATACTGCCTGG	0.547													G	179315143	A	G	179315143	3	3	235	1	0	0	0	0	1	0	0	0	15625	333	12	3	2602	3	TBC1D9B	5	179315143	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2429025	179315143	1600117	472	118065											
MGAT1	4245	broad.mit.edu	37	chr5	180219454	180219454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacttgcggtggtccggcGgcaccgcaatgctgctcagg	16	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr5:180219454G>A	uc003mmg.3	-	2	1013	c.518C>T	c.(517-519)CCG>CTG	p.P173L	MGAT1_uc010jlf.2_Missense_Mutation_p.P173L|MGAT1_uc010jlg.2_Missense_Mutation_p.P173L|MGAT1_uc003mmh.3_Missense_Mutation_p.P173L|MGAT1_uc010jlh.2_Missense_Mutation_p.P173L|MGAT1_uc003mmi.3_Missense_Mutation_p.P173L	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	173	Lumenal (Potential).				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			ovary(1)	1	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)			GTGGTCCGGCGGCACCGCAAT	0.701													A	180219454	G	A	180219454	3	1	235	1	0	0	0	0	1	0	0	0	9542	1116	39	1	823	1	MGAT1	5	180219454	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	904311	180219454	695806	473	118066											
NQO2	4835	broad.mit.edu	37	chr6	3017128	3017128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgcagggtaaactagCgctcctttccgtaaccacgg	9	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:3017128C>T	uc003mus.2	+	6	766	c.428C>T	c.(427-429)GCG>GTG	p.A143V	NQO2_uc003mut.2_Missense_Mutation_p.A143V	NM_000904	NP_000895	P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	143						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			ovary(1)	1	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	GGTAAACTAGCGCTCCTTTCC	0.547													T	3017128	C	T	3017128	3	4	235	1	0	0	0	0	1	0	0	0	10612	768	27	1	446	1	NQO2	6	3017128	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		3017128	168097939	474	118067											
BPHL	670	broad.mit.edu	37	chr6	3137678	3137678	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgactactttgccagaacCtgtgaaaagtgggtggatgg	13	6	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:3137678C>A	uc003mva.2	+	5	664	c.615C>A	c.(613-615)ACC>ACA	p.T205T	BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Silent_p.T188T	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	205					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTGCCAGAACCTGTGAAAAGT	0.468													A	3137678	C	A	3137678	2	1	235	1	0	0	0	0	0	0	0	1	1489	668	24	5		5	BPHL	6	3137678	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	120550	3137678	167977389	475	118068											
NRN1	51299	broad.mit.edu	37	chr6	5999288	5999288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagcagggaccccgccGccccgttgccgctgccgcag	15	19	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:5999288G>A	uc003mwu.2	-	3	1001	c.350C>T	c.(349-351)GCG>GTG	p.A117V	NRN1_uc003mwt.2_Missense_Mutation_p.A143V	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	117						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		GGACCCCGCCGCCCCGTTGCC	0.602													A	5999288	G	A	5999288	3	1	235	1	0	0	0	0	1	0	0	0	10658	1087	38	1	82	1	NRN1	6	5999288	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2861610	5999288	165115779	476	118069											
NEDD9	4739	broad.mit.edu	37	chr6	11191156	11191156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgggggacatcatatgCgtcgttctgagagcccactg	13	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:11191156C>T	uc003mzv.2	-	5	1113	c.946G>A	c.(946-948)GCA>ACA	p.A316T	NEDD9_uc010joz.2_Missense_Mutation_p.A316T|NEDD9_uc003mzw.3_Missense_Mutation_p.A170T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	316					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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACATCATATGCGTCGTTCTGA	0.572													T	11191156	C	T	11191156	3	4	235	1	0	0	0	0	1	0	0	0	10313	768	27	1	1570	1	NEDD9	6	11191156	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5191868	11191156	159923911	477	118070											
PHACTR1	221692	broad.mit.edu	37	chr6	13160486	13160486	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagaagagctgataaagCgaggagtcctgaaggaaatc	14	6	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:13160486C>T	uc010jpc.2	+	6	798	c.466C>T	c.(466-468)CGA>TGA	p.R156*	PHACTR1_uc011dir.1_Nonsense_Mutation_p.R156*|PHACTR1_uc003nag.1_Nonsense_Mutation_p.R156*|PHACTR1_uc003nah.1_Nonsense_Mutation_p.R156*	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	156	RPEL 1.					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTGATAAAGCGAGGAGTCCT	0.443													T	13160486	C	T	13160486	4	4	235	1	0	0	0	0	0	1	0	0	11809	760	27	1	480	1	PHACTR1	6	13160486	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1969330	13160486	157954581	478	118071											
RANBP9	10048	broad.mit.edu	37	chr6	13644899	13644899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacacgaaaggatgttgCccaaaattggcatcgaccac	8	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:13644899C>T	uc003nbb.2	-	6	1049	c.990G>A	c.(988-990)GGG>GGA	p.G330G	RANBP9_uc003nba.2_5'UTR	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	330	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AAGGATGTTGCCCAAAATTGG	0.418													T	13644899	C	T	13644899	2	4	235	1	0	0	0	0	0	0	0	1	13032	726	26	2		2	RANBP9	6	13644899	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	484413	13644899	157470168	479	118072											
ATXN1	6310	broad.mit.edu	37	chr6	16327924	16327924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgctgatgctgctgCtgctgctgctgctgctgctg	14	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:16327924C>A	uc003nbt.2	-	8	1589	c.618G>T	c.(616-618)CAG>CAT	p.Q206H	ATXN1_uc010jpi.2_Missense_Mutation_p.Q206H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	206	Poly-Gln.				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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgctgctgctgctgct	0.373													A	16327924	C	A	16327924	3	1	235	1	0	0	0	0	1	0	0	0	1209	796	28	5	1837	5	ATXN1	6	16327924	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2683025	16327924	154787143	480	118073											
FAM65B	9750	broad.mit.edu	37	chr6	24843662	24843662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgttgagttggaaggggAgcctgttgagtgggaggtga	19	2	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:24843662A>G	uc003neo.1	-	14	1524	c.1348T>C	c.(1348-1350)TCC>CCC	p.S450P	FAM65B_uc011djs.1_Missense_Mutation_p.S429P|FAM65B_uc011dju.1_Missense_Mutation_p.S434P|FAM65B_uc003nep.2_Missense_Mutation_p.S400P|FAM65B_uc011djt.1_Missense_Mutation_p.S400P	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	450					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						TTGGAAGGGGAGCCTGTTGAG	0.547													G	24843662	A	G	24843662	3	3	235	1	0	0	0	0	1	0	0	0	5600	304	11	3	1908	3	FAM65B	6	24843662	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	8515738	24843662	146271405	481	118074											
LRRC16A	55604	broad.mit.edu	37	chr6	25581667	25581667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacccacccaagcagcGgtaggtggactgcaggagag	14	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:25581667G>A	uc011djw.1	+	31	3382	c.3006G>A	c.(3004-3006)GCG>GCA	p.A1002A	LRRC16A_uc010jpx.2_Silent_p.A1002A|LRRC16A_uc010jpy.2_Silent_p.A1002A	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1002	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CCCAAGCAGCGGTAGGTGGAC	0.498													A	25581667	G	A	25581667	2	1	235	1	0	0	0	0	0	0	0	1	8971	1130	39	1		1	LRRC16A	6	25581667	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	738005	25581667	145533400	482	118075											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250607	26250607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcggtcttgaagtcctgcGcgatctcacgtaccagacgc	12	13	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:26250607G>A	uc003nhg.1	-	1	229	c.227C>T	c.(226-228)GCG>GTG	p.A76V	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	76					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						GAAGTCCTGCGCGATCTCACG	0.592											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	26250607	G	A	26250607	3	1	235	1	0	0	0	0	1	0	0	0	7160	1087	38	1	187	1	HIST1H3F	6	26250607	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	668940	26250607	144864460	483	118076											
ZNF322A	79692	broad.mit.edu	37	chr6	26637632	26637632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaagacctttttcacTcacattacagacaaacggtt	5	11	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:26637632T>C	uc003nil.3	-	4	1779	c.1150A>G	c.(1150-1152)AGT>GGT	p.S384G	ZNF322A_uc003nij.2_5'Flank	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322A	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0						CCTTTTTCACTCACATTACAG	0.403													C	26637632	T	C	26637632	3	2	235	1	0	0	0	0	1	0	0	0	17838	1551	54	3	62	3	ZNF322A	6	26637632	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	387025	26637632	144477435	484	118077											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834647	27834647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacttctttttggcagccgCcttcttggcctttgcagctt	8	13	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:27834647C>T	uc003njx.2	-	1	713	c.661G>A	c.(661-663)GCG>ACG	p.A221T		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	221					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TTGGCAGCCGCCTTCTTGGCC	0.532													T	27834647	C	T	27834647	3	4	235	1	0	0	0	0	1	0	0	0	7123	739	26	2	23	2	HIST1H1B	6	27834647	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1197015	27834647	143280420	485	118078											
TRIM27	5987	broad.mit.edu	37	chr6	28872085	28872085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaagaaaatccccaccCgctggagcggggtccgcagg	13	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:28872085C>T	uc003nlr.2	-	8	1663	c.1304G>A	c.(1303-1305)CGG>CAG	p.R435Q	TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	435	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			ovary(1)	1						AATCCCCACCCGCTGGAGCGG	0.532			T	RET	papillary thyroid								T	28872085	C	T	28872085	3	4	235	1	0	0	0	0	1	0	0	0	16498	652	23	1	241	1	TRIM27	6	28872085	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1037438	28872085	142242982	486	118079											
OR2J3	442186	broad.mit.edu	37	chr6	29080104	29080104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccctcgtttctgccaccTgctggctgtggcttcttggg	12	14	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:29080104T>C	uc011dll.1	+	1	437	c.437T>C	c.(436-438)CTG>CCG	p.L146P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCTGCCACCTGCTGGCTGTG	0.512													C	29080104	T	C	29080104	3	2	235	1	0	0	0	0	1	0	0	0	11004	1580	55	3	439	3	OR2J3	6	29080104	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	208019	29080104	142034963	487	118080											
OR12D2	26529	broad.mit.edu	37	chr6	29365367	29365367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggaacaaggaagtgaaGggggccttgggtagagtgat	18	3	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:29365367G>T	uc003nmf.3	+	1	952	c.891G>T	c.(889-891)AAG>AAT	p.K297N		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGGAAGTGAAGGGGGCCTTGG	0.433													T	29365367	G	T	29365367	3	4	235	1	0	0	0	0	1	0	0	0	10931	991	35	5	893	5	OR12D2	6	29365367	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	285263	29365367	141749700	488	118081											
PPP1R11	6992	broad.mit.edu	37	chr6	30036995	30036995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggccaccgcaaaggacGgcgtcgtgcaaccctaggac	13	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:30036995G>A	uc003npb.2	+	3	549	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA	NM_021959	NP_068778	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor)	98						soluble fraction	protein binding|protein phosphatase inhibitor activity			ovary(1)|lung(1)|skin(1)	3						CGCAAAGGACGGCGTCGTGCA	0.622													A	30036995	G	A	30036995	3	1	235	1	0	0	0	0	1	0	0	0	12353	1116	39	1	303	1	PPP1R11	6	30036995	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	671628	30036995	141078072	489	118082											
C6orf134	79969	broad.mit.edu	37	chr6	30608312	30608312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcttccttcctcacagGgccccctgctccctctctga	7	21	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:30608312G>A	uc003nqu.2	+	8	634	c.584G>A	c.(583-585)CGG>CAG	p.R195Q	C6orf134_uc003nqr.3_Missense_Mutation_p.R195Q|C6orf134_uc003rdc.2_Missense_Mutation_p.R195Q|C6orf134_uc003nqs.3_Intron|C6orf134_uc003rdd.2_Intron|C6orf134_uc003nqt.2_RNA|C6orf134_uc011dmm.1_Intron|C6orf134_uc003nqv.2_Missense_Mutation_p.R183Q	NM_024909	NP_079185	Q5SQI0	ATAT_HUMAN	hypothetical protein LOC79969 isoform 2	195							tubulin N-acetyltransferase activity				0						TTCCTCACAGGGCCCCCTGCT	0.607													A	30608312	G	A	30608312	3	1	235	1	0	0	0	0	1	0	0	0	2330	1246	43	4	614	4	C6orf134	6	30608312	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	571317	30608312	140506755	490	118083											
BAT2	7916	broad.mit.edu	37	chr6	31595599	31595599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaggatgaggcatggCggcagcgacgaaagcagtcg	17	7	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:31595599C>T	uc003nvb.3	+	12	1597	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.R450W	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	450	4 X 57 AA type A repeats.|2 X type B repeats.					cytoplasm|nucleus	protein binding				0						TGAGGCATGGCGGCAGCGACG	0.627													T	31595599	C	T	31595599	3	4	235	1	0	0	0	0	1	0	0	0	1319	759	27	1	1390	1	BAT2	6	31595599	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	987287	31595599	139519468	491	118084											
RDBP	7936	broad.mit.edu	37	chr6	31924611	31924611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatgacaggctgctctgaTagtgctggagagacaagggg	15	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:31924611T>C	uc003nyk.2	-	4	354	c.150A>G	c.(148-150)CTA>CTG	p.L50L	RDBP_uc011dot.1_Silent_p.L50L|RDBP_uc003nyl.1_5'UTR|RDBP_uc003nym.1_Silent_p.L50L|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	50					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GCTGCTCTGATAGTGCTGGAG	0.547													C	31924611	T	C	31924611	2	2	235	1	0	0	0	0	0	0	0	1	13188	1393	49	3		3	RDBP	6	31924611	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	329012	31924611	139190456	492	118085											
TNXB	7148	broad.mit.edu	37	chr6	31977521	31977521	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagccgcccccatcagtctCcatgtcccaaaacacgttca	5	19	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:31977521C>A	uc011dpc.1	-	12	2383	c.1474G>T	c.(1474-1476)GAG>TAG	p.E492*		NM_032470	NP_115859	P22105	TENX_HUMAN	tenascin XB isoform 2	4108	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CCATCAGTCTCCATGTCCCAA	0.667													A	31977521	C	A	31977521	4	1	235	1	0	0	0	0	0	1	0	0	16343	864	30	5	567	5	TNXB	6	31977521	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	52910	31977521	139137546	493	118086											
B3GALT4	8705	broad.mit.edu	37	chr6	33245893	33245893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgggccgggtgcactggCgcgtgaacccctctcggaca	14	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:33245893C>T	uc003odr.2	+	1	977	c.697C>T	c.(697-699)CGC>TGC	p.R233C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	233	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GGTGCACTGGCGCGTGAACCC	0.652													T	33245893	C	T	33245893	3	4	235	1	0	0	0	0	1	0	0	0	1249	768	27	1	699	1	B3GALT4	6	33245893	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1268372	33245893	137869174	494	118087											
C6orf1	221491	broad.mit.edu	37	chr6	34214308	34214308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctagagaaagcaaaggtGtctaccagccgcccccatcc	11	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:34214308G>A	uc003ojf.2	-	5	1055	c.463C>T	c.(463-465)CAC>TAC	p.H155Y	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Missense_Mutation_p.H155Y|C6orf1_uc003ojh.2_Missense_Mutation_p.H155Y|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	155						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		AAGCAAAGGTGTCTACCAGCC	0.587													A	34214308	G	A	34214308	3	1	235	1	0	0	0	0	1	0	0	0	2316	1377	48	4	20	4	C6orf1	6	34214308	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	968415	34214308	136900759	495	118088											
PPARD	5467	broad.mit.edu	37	chr6	35392251	35392251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacagtggagaccgtgcGggagctcactgagttcgcca	13	13	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:35392251G>A	uc003okm.2	+	7	1082	c.773G>A	c.(772-774)CGG>CAG	p.R258Q	PPARD_uc003okl.2_Missense_Mutation_p.R258Q|PPARD_uc003okn.2_Missense_Mutation_p.R258Q|PPARD_uc011dtb.1_Missense_Mutation_p.R219Q|PPARD_uc011dtc.1_Missense_Mutation_p.R160Q	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	258	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			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GAGACCGTGCGGGAGCTCACT	0.592													A	35392251	G	A	35392251	3	1	235	1	0	0	0	0	1	0	0	0	12298	1116	39	1	808	1	PPARD	6	35392251	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1177943	35392251	135722816	496	118089											
CPNE5	57699	broad.mit.edu	37	chr6	36733117	36733117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcctgcttacctgccGtcccgatcccagtcgtacac	7	19	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:36733117G>A	uc003omr.1	-	11	841	c.774C>T	c.(772-774)GAC>GAT	p.D258D	CPNE5_uc003oms.1_Silent_p.D237D	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	258	C2 2.									skin(1)	1						CTTACCTGCCGTCCCGATCCC	0.657													A	36733117	G	A	36733117	2	1	235	1	0	0	0	0	0	0	0	1	3815	1136	40	1		1	CPNE5	6	36733117	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1340866	36733117	134381950	497	118090											
C6orf89	221477	broad.mit.edu	37	chr6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C													aaagaatgaacctcagagacINScccccccgcagtatcctctc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													C	36867372	-	C	36867371	7	5	235	1	0	1	1	0	0	0	0	0	2373	507	18	0	178	0	C6orf89	6	36867371	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	134254	36867371	134247696	498	118091											
BTBD9	114781	broad.mit.edu	37	chr6	38562036	38562036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcattgtgaatgcttctgCagtggtgtcttggagaggaa	14	5	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:38562036C>T	uc003ooa.3	-	4	829	c.253G>A	c.(253-255)GCA>ACA	p.A85T	BTBD9_uc003ony.3_Missense_Mutation_p.A17T|BTBD9_uc010jwv.2_Missense_Mutation_p.A17T|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.A85T	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	85	BTB.				cell adhesion						0						AATGCTTCTGCAGTGGTGTCT	0.478													T	38562036	C	T	38562036	3	4	235	1	0	0	0	0	1	0	0	0	1548	710	25	2	1712	2	BTBD9	6	38562036	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1694665	38562036	132553031	499	118092											
DNAH8	1769	broad.mit.edu	37	chr6	38754702	38754702	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaaattggaaagtaaaTtgaaagcagacaaactgtat	8	4	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:38754702T>A	uc003ooe.1	+	16	2506	c.1906T>A	c.(1906-1908)TTG>ATG	p.L636M		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGAAAGTAAATTGAAAGCAGA	0.274													A	38754702	T	A	38754702	3	1	235	1	0	0	0	0	1	0	0	0	4607	1490	52	5	1960	5	DNAH8	6	38754702	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	192666	38754702	132360365	500	118093											
KIF6	221458	broad.mit.edu	37	chr6	39507819	39507819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatcttttccccaaaatGctgaagtcctgggcctgtga	10	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:39507819G>A	uc003oot.2	-	13	1700	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Silent_p.S326S|KIF6_uc011dua.1_Silent_p.S535S|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	535					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TCCCCAAAATGCTGAAGTCCT	0.468													A	39507819	G	A	39507819	2	1	235	1	0	0	0	0	0	0	0	1	8308	1310	46	2		2	KIF6	6	39507819	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	753117	39507819	131607248	501	118094											
TDRD6	221400	broad.mit.edu	37	chr6	46661723	46661723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcttttgatgaccagcGcaggatgtcattgcatctac	9	9	3	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:46661723G>A	uc003oyj.2	+	1	5858	c.5858G>A	c.(5857-5859)CGC>CAC	p.R1953H	TDRD6_uc010jze.2_Missense_Mutation_p.R1947H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1953					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GATGACCAGCGCAGGATGTCA	0.378													A	46661723	G	A	46661723	3	1	235	1	0	0	0	0	1	0	0	0	15731	1087	38	1	5860	1	TDRD6	6	46661723	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7153904	46661723	124453344	502	118095											
GPR115	221393	broad.mit.edu	37	chr6	47682279	47682279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcccgggtggttgtgaCggagatatcatacatgcgtc	15	8	1	2	rs146828294	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:47682279C>T	uc003oza.1	+	6	1556	c.1298C>T	c.(1297-1299)ACG>ATG	p.T433M	GPR115_uc003oyz.1_Missense_Mutation_p.T490M|GPR115_uc003ozb.1_Missense_Mutation_p.T431M	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	433	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						GTGGTTGTGACGGAGATATCA	0.478													T	47682279	C	T	47682279	3	4	235	1	0	0	0	0	1	0	0	0	6632	536	19	1	1316	1	GPR115	6	47682279	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1020556	47682279	123432788	503	118096											
C6orf138	442213	broad.mit.edu	37	chr6	47846834	47846835	+	Frame_Shift_Ins	INS	-	-	T													gaaaatgctggaattctggcINSttttttaaaaatgagctttg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:47846834_47846835insT	uc011dwm.1	-	3	1779_1780	c.1694_1695insA	c.(1693-1695)AAGfs	p.K565fs	C6orf138_uc011dwn.1_Frame_Shift_Ins_p.K329fs	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	582						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GGAATTCTGGCTTTTTTAAAAA	0.441													T	47846835	-	T	47846834	7	5	235	1	0	1	1	0	0	0	0	0	2332	796	28	0	798	0	C6orf138	6	47846834	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	164555	47846834	123268233	504	118097											
TFAP2D	83741	broad.mit.edu	37	chr6	50682856	50682856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacggatcaaacagctacCgtttgatgcagcttggctgt	11	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:50682856C>T	uc003paf.2	+	2	579	c.67C>T	c.(67-69)CGT>TGT	p.R23C	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	23							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					AAACAGCTACCGTTTGATGCA	0.517													T	50682856	C	T	50682856	3	4	235	1	0	0	0	0	1	0	0	0	15787	652	23	1	73	1	TFAP2D	6	50682856	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2836022	50682856	120432211	505	118098											
PKHD1	5314	broad.mit.edu	37	chr6	51524188	51524188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagttagtctttcgagtattActatttcccagcctttttct	5	9	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:51524188A>G	uc003pah.1	-	61	11012	c.10736T>C	c.(10735-10737)GTA>GCA	p.V3579A		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3579	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTCGAGTATTACTATTTCCCA	0.438													G	51524188	A	G	51524188	3	3	235	1	0	0	0	0	1	0	0	0	11971	391	14	3	1516	3	PKHD1	6	51524188	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	841332	51524188	119590879	506	118099											
GCLC	2729	broad.mit.edu	37	chr6	53387264	53387264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcaagaactttctccCcagacaggaccaaccggact	8	13	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:53387264C>A	uc003pbw.1	-	2	600	c.212G>T	c.(211-213)GGG>GTG	p.G71V	GCLC_uc003pbx.2_Missense_Mutation_p.G71V	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	71					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			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AACTTTCTCCCCAGACAGGAC	0.373													A	53387264	C	A	53387264	3	1	235	1	0	0	0	0	1	0	0	0	6295	623	22	5	1761	5	GCLC	6	53387264	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1863076	53387264	117727803	507	118100											
ZNF451	26036	broad.mit.edu	37	chr6	57012447	57012447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacatgagccggattcacGgaggggcacatttaaataac	10	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:57012447G>A	uc003pdm.1	+	10	1788	c.1564G>A	c.(1564-1566)GGA>AGA	p.G522R	ZNF451_uc003pdl.2_Missense_Mutation_p.G522R|ZNF451_uc003pdn.1_Missense_Mutation_p.G522R|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.G522R	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCGGATTCACGGAGGGGCACA	0.403													A	57012447	G	A	57012447	3	1	235	1	0	0	0	0	1	0	0	0	17919	1117	39	1	1602	1	ZNF451	6	57012447	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3625183	57012447	114102620	508	118101											
COL9A1	1297	broad.mit.edu	37	chr6	70990735	70990735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggggggcccttaggacctCggtcaccctggaggggtagg	18	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:70990735C>T	uc003pfg.3	-	9	1043	c.884G>A	c.(883-885)CGA>CAA	p.R295Q	COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Missense_Mutation_p.R52Q	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	295	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CTTAGGACCTCGGTCACCCTG	0.572													T	70990735	C	T	70990735	3	4	235	1	0	0	0	0	1	0	0	0	3707	884	31	1	2001	1	COL9A1	6	70990735	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	13978288	70990735	100124332	509	118102											
FAM135A	57579	broad.mit.edu	37	chr6	71248027	71248027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaatggaaaaaatcagGttcgcttttgcagctgacat	10	7	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:71248027G>A	uc003pfj.2	+	18	4284	c.4151G>A	c.(4150-4152)GGT>GAT	p.G1384D	FAM135A_uc003pfi.2_Missense_Mutation_p.G1188D|FAM135A_uc003pfh.2_Missense_Mutation_p.G1171D|FAM135A_uc003pfl.2_Missense_Mutation_p.G1051D|FAM135A_uc003pfn.2_Missense_Mutation_p.G590D|FAM135A_uc003pfo.1_Missense_Mutation_p.G755D|FAM135A_uc010kan.1_Intron	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1384										central_nervous_system(1)	1						AAAAAATCAGGTTCGCTTTTG	0.328													A	71248027	G	A	71248027	3	1	235	1	0	0	0	0	1	0	0	0	5448	1261	44	4	4299	4	FAM135A	6	71248027	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	257292	71248027	99867040	510	118103											
KHDC1	80759	broad.mit.edu	37	chr6	73952206	73952206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaggcagggtccaccacGgcttcttgctgagagcactc	12	12	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:73952206G>A	uc003pgo.2	-	3	755	c.254C>T	c.(253-255)CCG>CTG	p.P85L	KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Missense_Mutation_p.P12L	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	85						integral to membrane	RNA binding			skin(1)	1						GGTCCACCACGGCTTCTTGCT	0.532													A	73952206	G	A	73952206	3	1	235	1	0	0	0	0	1	0	0	0	8144	1116	39	1	471	1	KHDC1	6	73952206	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2704179	73952206	97162861	511	118104											
COL12A1	1303	broad.mit.edu	37	chr6	75853032	75853032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgcacttttccaggcacaGgttcccaaaagacattcata	6	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:75853032G>T	uc003phs.2	-	26	4929	c.4763C>A	c.(4762-4764)CCT>CAT	p.P1588H	COL12A1_uc003pht.2_Missense_Mutation_p.P424H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1588	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TCCAGGCACAGGTTCCCAAAA	0.398													T	75853032	G	T	75853032	3	4	235	1	0	0	0	0	1	0	0	0	3669	1000	35	5	4592	5	COL12A1	6	75853032	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1900826	75853032	95262035	512	118105											
COL12A1	1303	broad.mit.edu	37	chr6	75861886	75861886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtacggcaagtttgccaCagcttgcaacaagctcttct	8	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:75861886C>T	uc003phs.2	-	19	3962	c.3796G>A	c.(3796-3798)GTG>ATG	p.V1266M	COL12A1_uc003pht.2_Missense_Mutation_p.V102M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1266	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AAGTTTGCCACAGCTTGCAAC	0.473													T	75861886	C	T	75861886	3	4	235	1	0	0	0	0	1	0	0	0	3669	478	17	4	5587	4	COL12A1	6	75861886	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	8854	75861886	95253181	513	118106											
HTR1B	3351	broad.mit.edu	37	chr6	78172719	78172719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgcaggatggaggcAgtgcaacaagtgatgtccga	16	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:78172719A>G	uc003pil.1	-	1	402	c.402T>C	c.(400-402)ACT>ACC	p.T134T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	134	Helical; Name=3; (By similarity).				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				0		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)	GGATGGAGGCAGTGCAACAAG	0.612													G	78172719	A	G	78172719	2	3	235	1	0	0	0	0	0	0	0	1	7437	175	7	3		3	HTR1B	6	78172719	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2310833	78172719	92942348	514	118107											
TTK	7272	broad.mit.edu	37	chr6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtaccactagaaatGctggaaattgccctgcggaa	12	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:80720598G>A	uc003pjc.2	+	5	611	c.537G>A	c.(535-537)ATG>ATA	p.M179I	TTK_uc003pjb.3_Missense_Mutation_p.M179I	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	179					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			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		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)		CACTAGAAATGCTGGAAATTG	0.348													A	80720598	G	A	80720598	3	1	235	1	0	0	0	0	1	0	0	0	16717	1319	46	2	551	2	TTK	6	80720598	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2547879	80720598	90394469	515	118108											
PRSS35	167681	broad.mit.edu	37	chr6	84233649	84233649	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctcatttcccctcagcaTgttctaactgctgcccactg	5	15	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:84233649T>C	uc003pjz.2	+	2	652	c.489T>C	c.(487-489)CAT>CAC	p.H163H	PRSS35_uc010kbm.2_Silent_p.H163H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	163	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		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)		CCCCTCAGCATGTTCTAACTG	0.453													C	84233649	T	C	84233649	2	2	235	1	0	0	0	0	0	0	0	1	12624	1461	51	3		3	PRSS35	6	84233649	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3513051	84233649	86881418	516	118109											
CNR1	1268	broad.mit.edu	37	chr6	88853588	88853588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggctcacagagcctcgGcagacgtgtctgtggacaca	12	12	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:88853588G>A	uc011dzq.1	-	2	4969	c.1406C>T	c.(1405-1407)GCC>GTC	p.A469V	CNR1_uc010kbz.2_Missense_Mutation_p.A469V|CNR1_uc011dzr.1_Missense_Mutation_p.A469V|CNR1_uc011dzs.1_Missense_Mutation_p.A469V|CNR1_uc003pmq.3_Missense_Mutation_p.A469V|CNR1_uc011dzt.1_Missense_Mutation_p.A469V|CNR1_uc010kca.2_Missense_Mutation_p.A436V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	469	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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)	CAGAGCCTCGGCAGACGTGTC	0.473													A	88853588	G	A	88853588	3	1	235	1	0	0	0	0	1	0	0	0	3631	1203	42	2	16	2	CNR1	6	88853588	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4619939	88853588	82261479	517	118110											
COQ3	51805	broad.mit.edu	37	chr6	99831610	99831610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcaaacaggaaaagatcGtcctgtaggatttgaaccat	9	7	1	2	rs149717575	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:99831610G>A	uc003ppk.2	-	2	224	c.197C>T	c.(196-198)ACG>ATG	p.T66M		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	66					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GGAAAAGATCGTCCTGTAGGA	0.338													A	99831610	G	A	99831610	3	1	235	1	0	0	0	0	1	0	0	0	3746	1145	40	1	936	1	COQ3	6	99831610	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10978022	99831610	71283457	518	118111											
LIN28B	389421	broad.mit.edu	37	chr6	105474236	105474236	+	Frame_Shift_Del	DEL	A	A	-													aaccagtggaattcacatttAaaaaatcttccaaaggcctt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:105474236delA	uc003pqv.1	+	3	465	c.262delA	c.(262-264)AAAfs	p.K88fs	LIN28B_uc010kda.1_Frame_Shift_Del_p.K48fs	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	88	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATTCACATTTAAAAAATCTTC	0.438													-	105474236	A	-	105474236	7	5	235	1	0	1	0	1	0	0	0	0	8806	363	13	0	272	0	LIN28B	6	105474236	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	5642626	105474236	65640831	519	118112											
WASF1	8936	broad.mit.edu	37	chr6	110428390	110428390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacttcagaccttctttacCatcatctctgaaatataaaa	2	10	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:110428390C>A	uc003ptv.1	-	7	1267	c.430G>T	c.(430-432)GGT>TGT	p.G144C	WASF1_uc003ptw.1_Missense_Mutation_p.G144C|WASF1_uc003ptx.1_Missense_Mutation_p.G144C|WASF1_uc003pty.1_Missense_Mutation_p.G144C|WASF1_uc003ptz.1_Missense_Mutation_p.G144C	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	144					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CCTTCTTTACCATCATCTCTG	0.294													A	110428390	C	A	110428390	3	1	235	1	0	0	0	0	1	0	0	0	17249	594	21	5	1269	5	WASF1	6	110428390	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4954154	110428390	60686677	520	118113											
REV3L	5980	broad.mit.edu	37	chr6	111696108	111696108	+	Frame_Shift_Del	DEL	A	A	-													ttatatacattaggacccttAaaaagcattgcctctttttc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:111696108delA	uc003puy.3	-	13	3773	c.3450delT	c.(3448-3450)TTTfs	p.F1150fs	REV3L_uc003pux.3_Frame_Shift_Del_p.F1072fs|REV3L_uc003puz.3_Frame_Shift_Del_p.F1072fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1150					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		TAGGACCCTTAAAAAGCATTG	0.418								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					-	111696108	A	-	111696108	7	5	235	1	0	1	0	1	0	0	0	0	13240	359	13	0	6022	0	REV3L	6	111696108	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1267718	111696108	59418959	521	118114											
WISP3	8838	broad.mit.edu	37	chr6	112382213	112382213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgctgcagggtacaggGcactggaccattagatacaa	12	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:112382213G>A	uc003pvm.2	+	3	178	c.68G>A	c.(67-69)GGC>GAC	p.G23D	WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.G41D	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	23					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AGGGTACAGGGCACTGGACCA	0.438													A	112382213	G	A	112382213	3	1	235	1	0	0	0	0	1	0	0	0	17371	1203	42	2	128	2	WISP3	6	112382213	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	686105	112382213	58732854	522	118115											
FRK	2444	broad.mit.edu	37	chr6	116325059	116325059	+	Frame_Shift_Del	DEL	T	T	-													cctgaaagagagaattctccTttttggctttcactttctct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:116325059delT	uc003pwi.1	-	2	894	c.447delA	c.(445-447)AAAfs	p.K149fs		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	149	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AGAATTCTCCTTTTTGGCTTT	0.398													-	116325059	T	-	116325059	7	5	235	1	0	1	0	1	0	0	0	0	6048	1606	56	0	1098	0	FRK	6	116325059	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	3942846	116325059	54790008	523	118116											
DSE	29940	broad.mit.edu	37	chr6	116757924	116757924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatactgtcccgagtcCggaacacagctagctttagg	11	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:116757924C>T	uc003pws.2	+	6	2487	c.2293C>T	c.(2293-2295)CGG>TGG	p.R765W	DSE_uc011ebg.1_Missense_Mutation_p.R784W|DSE_uc003pwt.2_Missense_Mutation_p.R765W|DSE_uc003pwu.2_Missense_Mutation_p.R432W	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	765					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GTCCCGAGTCCGGAACACAGC	0.473													T	116757924	C	T	116757924	3	4	235	1	0	0	0	0	1	0	0	0	4774	643	23	1	2311	1	DSE	6	116757924	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	432865	116757924	54357143	524	118117											
THEMIS	387357	broad.mit.edu	37	chr6	128134599	128134599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacagaggacttcagtcGtctctgactgatgcaccaga	9	13	3	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:128134599G>A	uc003qbi.2	-	5	1506	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	THEMIS_uc010kfa.2_Missense_Mutation_p.T299M|THEMIS_uc011ebt.1_Missense_Mutation_p.T396M|THEMIS_uc010kfb.2_Missense_Mutation_p.T361M	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	396	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						GACTTCAGTCGTCTCTGACTG	0.493													A	128134599	G	A	128134599	3	1	235	1	0	0	0	0	1	0	0	0	15857	1145	40	1	871	1	THEMIS	6	128134599	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	11376675	128134599	42980468	525	118118											
THEMIS	387357	broad.mit.edu	37	chr6	128150884	128150884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctactgcacagctcaccAttatttctccatcaatctct	3	14	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:128150884A>G	uc003qbi.2	-	4	765	c.446T>C	c.(445-447)ATG>ACG	p.M149T	THEMIS_uc010kfa.2_Missense_Mutation_p.M52T|THEMIS_uc011ebt.1_Missense_Mutation_p.M149T|THEMIS_uc010kfb.2_Missense_Mutation_p.M114T	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	149	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						ACAGCTCACCATTATTTCTCC	0.383													G	128150884	A	G	128150884	3	3	235	1	0	0	0	0	1	0	0	0	15857	217	8	3	1616	3	THEMIS	6	128150884	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	16285	128150884	42964183	526	118119											
SAMD3	154075	broad.mit.edu	37	chr6	130476087	130476087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attctcttgtcaatttctctCcagtccttttctgttttcac	3	12	5	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:130476087C>A	uc003qbv.2	-	10	1232	c.906G>T	c.(904-906)TGG>TGT	p.W302C	SAMD3_uc003qbx.2_Missense_Mutation_p.W302C|SAMD3_uc003qbw.2_Missense_Mutation_p.W302C	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	302										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CAATTTCTCTCCAGTCCTTTT	0.373													A	130476087	C	A	130476087	3	1	235	1	0	0	0	0	1	0	0	0	13820	856	30	5	672	5	SAMD3	6	130476087	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2325203	130476087	40638980	527	118120											
EPB41L2	2037	broad.mit.edu	37	chr6	131206333	131206333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcaatgctgacaagtccaGgtccataggctgaaatctcc	10	12	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:131206333G>T	uc003qch.2	-	12	1918	c.1736C>A	c.(1735-1737)CCT>CAT	p.P579H	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Missense_Mutation_p.P579H|EPB41L2_uc011eby.1_Missense_Mutation_p.P579H|EPB41L2_uc003qci.2_Missense_Mutation_p.P579H|EPB41L2_uc010kfk.2_Missense_Mutation_p.P579H|EPB41L2_uc010kfl.1_Missense_Mutation_p.P579H	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	579	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GACAAGTCCAGGTCCATAGGC	0.493											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	131206333	G	T	131206333	3	4	235	1	0	0	0	0	1	0	0	0	5153	1000	35	5	1313	5	EPB41L2	6	131206333	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	730246	131206333	39908734	528	118121											
RPS12	6206	broad.mit.edu	37	chr6	133138636	133138636	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggactatggcaaggagtcTcaggccaaggatgtcattga	13	7	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:133138636T>C	uc003qdx.2	+	6	436	c.354T>C	c.(352-354)TCT>TCC	p.S118S		NM_001016	NP_001007	P25398	RS12_HUMAN	ribosomal protein S12	118					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome				0	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GCAAGGAGTCTCAGGCCAAGG	0.353													C	133138636	T	C	133138636	2	2	235	1	0	0	0	0	0	0	0	1	13622	1538	54	3		3	RPS12	6	133138636	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1932303	133138636	37976431	529	118122											
SLC2A12	154091	broad.mit.edu	37	chr6	134349584	134349584	+	Frame_Shift_Del	DEL	A	A	-													tggctaaggacagccatttcAaaaaagctgggacgtcccca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:134349584delA	uc003qem.1	-	2	1550	c.1379delT	c.(1378-1380)TTGfs	p.L460fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	460	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CAGCCATTTCAAAAAAGCTGG	0.433													-	134349584	A	-	134349584	7	5	235	1	0	1	0	1	0	0	0	0	14541	131	5	0	490	0	SLC2A12	6	134349584	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1210948	134349584	36765483	530	118123											
SLC2A12	154091	broad.mit.edu	37	chr6	134350099	134350099	+	Frame_Shift_Del	DEL	A	A	-													ggttggccagtgatttgtacAaaaaatactagtgttagtcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:134350098_134350098CA>C	uc003qem.1	-	1	1036	c.865_865TG>G	c.(865-867)gtafs	p.V289fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	289						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)		GTGATTTGTACAAAAAATACT	0.408													-	134350099	A	-	134350099	7	5	235	1	0	1	0	1	0	0	0	0	14541	127	5	0	1005	0	SLC2A12	6	134350099	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	515	134350099	36764968	531	118124											
SLC2A12	154091	broad.mit.edu	37	chr6	134350554	134350554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagacccctatggcaatgcGtcccactataagaaccgtgt	10	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:134350554G>A	uc003qem.1	-	2	580	c.409C>T	c.(409-411)CGC>TGC	p.R137C		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	137	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ATGGCAATGCGTCCCACTATA	0.478													A	134350554	G	A	134350554	3	1	235	1	0	0	0	0	1	0	0	0	14541	1145	40	1	1460	1	SLC2A12	6	134350554	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	455	134350554	36764513	532	118125											
AHI1	54806	broad.mit.edu	37	chr6	135784284	135784285	+	Frame_Shift_Ins	INS	-	-	T													gctttagtcttcttttttgtINStttttttggtttaggttttg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:135784283_135784284G>GT	uc003qgi.3	-	7	1294_1295	c.910_911C>AC	c.(910-912)acafs	p.T304fs	AHI1_uc003qgh.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgj.3_Frame_Shift_Ins_p.T304fs|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Frame_Shift_Ins_p.T304fs	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	304						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)		CTTCTTTTTTGTTTTTTTTGGT	0.307													T	135784285	-	T	135784284	7	5	235	1	0	1	1	0	0	0	0	0	413	1725	60	0	2825	0	AHI1	6	135784284	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1433730	135784284	35330783	533	118126											
AIG1	51390	broad.mit.edu	37	chr6	143382143	143382143	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgtgtaactacaaggccatCgaaatgccctcacaccagac	7	14	1	1	rs11556578		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:143382143C>A	uc003qjh.2	+	1	121	c.81C>A	c.(79-81)ATC>ATA	p.I27I	AIG1_uc003qjf.2_Silent_p.I17I|AIG1_uc003qji.2_Silent_p.I17I|AIG1_uc011edw.1_Silent_p.I27I|AIG1_uc003qjg.2_Silent_p.I27I	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	androgen-induced 1	27						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		ACAAGGCCATCGAAATGCCCT	0.592													A	143382143	C	A	143382143	2	1	235	1	0	0	0	0	0	0	0	1	429	874	31	5		5	AIG1	6	143382143	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7597859	143382143	27732924	534	118127											
UTRN	7402	broad.mit.edu	37	chr6	144724272	144724272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagatgaacacaatgaCgtacagaagaaaacctttac	6	10	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:144724272C>T	uc003qkt.2	+	2	185	c.93C>T	c.(91-93)GAC>GAT	p.D31D	UTRN_uc010khq.1_Silent_p.D31D	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	31	CH 1.|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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACACAATGACGTACAGAAGA	0.368													T	144724272	C	T	144724272	2	4	235	1	0	0	0	0	0	0	0	1	17100	535	19	1		1	UTRN	6	144724272	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1342129	144724272	26390795	535	118128											
UTRN	7402	broad.mit.edu	37	chr6	144801065	144801065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggaagaatatttggagcggGattttgagtacaagtcacca	12	5	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:144801065G>T	uc003qkt.2	+	25	3546	c.3454G>T	c.(3454-3456)GAT>TAT	p.D1152Y	UTRN_uc010khq.1_Missense_Mutation_p.D1152Y	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1152	Spectrin 8.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTGGAGCGGGATTTTGAGTA	0.512													T	144801065	G	T	144801065	3	4	235	1	0	0	0	0	1	0	0	0	17100	1174	41	5	3552	5	UTRN	6	144801065	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	76793	144801065	26314002	536	118129											
UTRN	7402	broad.mit.edu	37	chr6	144811233	144811233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcagagatctcagcccaTgagctaaccctagaggagtt	10	11	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:144811233T>C	uc003qkt.2	+	30	4253	c.4161T>C	c.(4159-4161)CAT>CAC	p.H1387H		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1387	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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTCAGCCCATGAGCTAACCC	0.433													C	144811233	T	C	144811233	2	2	235	1	0	0	0	0	0	0	0	1	17100	1461	51	3		3	UTRN	6	144811233	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	10168	144811233	26303834	537	118130											
GRM1	2911	broad.mit.edu	37	chr6	146673400	146673400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttacaggcaatgaaagcttaGaagaaaactatgtccaggac	9	7	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:146673400G>A	uc010khw.1	+	5	1671	c.1201G>A	c.(1201-1203)GAA>AAA	p.E401K	GRM1_uc010khv.1_Missense_Mutation_p.E401K|GRM1_uc003qll.2_Missense_Mutation_p.E401K|GRM1_uc011edz.1_Missense_Mutation_p.E401K|GRM1_uc011eea.1_Missense_Mutation_p.E401K	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	401	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGAAAGCTTAGAAGAAAACTA	0.443													A	146673400	G	A	146673400	3	1	235	1	0	0	0	0	1	0	0	0	6796	943	33	4	1215	4	GRM1	6	146673400	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1862167	146673400	24441667	538	118131											
GRM1	2911	broad.mit.edu	37	chr6	146720020	146720020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcaccctaatctttgtActgtaccgggacacaccagt	7	12	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:146720020A>G	uc010khw.1	+	8	2315	c.1845A>G	c.(1843-1845)GTA>GTG	p.V615V	GRM1_uc010khv.1_Silent_p.V615V|GRM1_uc003qll.2_Silent_p.V615V|GRM1_uc011edz.1_Silent_p.V615V|GRM1_uc011eea.1_Silent_p.V615V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	615	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TAATCTTTGTACTGTACCGGG	0.488													G	146720020	A	G	146720020	2	3	235	1	0	0	0	0	0	0	0	1	6796	378	14	3		3	GRM1	6	146720020	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	46620	146720020	24395047	539	118132											
TAB2	23118	broad.mit.edu	37	chr6	149719193	149719193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaattgatctttttcaagCccgaggtaaagttcagtgta	9	6	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:149719193C>T	uc003qmj.2	+	5	2031	c.1853C>T	c.(1852-1854)GCC>GTC	p.A618V	TAB2_uc011eec.1_Missense_Mutation_p.A586V|TAB2_uc003qmk.3_RNA|SUMO4_uc003qml.2_5'Flank	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	618	Potential.				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				0						CTTTTTCAAGCCCGAGGTAAA	0.343													T	149719193	C	T	149719193	3	4	235	1	0	0	0	0	1	0	0	0	15493	739	26	2	1867	2	TAB2	6	149719193	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2999173	149719193	21395874	540	118133											
LATS1	9113	broad.mit.edu	37	chr6	150023018	150023018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaatggaagcagagagtttCgaatttcctgcaaggcttta	10	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:150023018C>T	uc003qmu.1	-	2	793	c.245G>A	c.(244-246)CGA>CAA	p.R82Q	LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Missense_Mutation_p.R82Q|LATS1_uc003qmw.2_Missense_Mutation_p.R82Q|LATS1_uc010kig.1_5'UTR	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	82					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CAGAGAGTTTCGAATTTCCTG	0.408													T	150023018	C	T	150023018	3	4	235	1	0	0	0	0	1	0	0	0	8646	884	31	1	3175	1	LATS1	6	150023018	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	303825	150023018	21092049	541	118134											
SYNE1	23345	broad.mit.edu	37	chr6	152772296	152772296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctattcttctccacatcAatcttcagatgaagcaaatg	4	11	5	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:152772296A>G	uc010kiw.2	-	26	3674	c.3072T>C	c.(3070-3072)ATT>ATC	p.I1024I	SYNE1_uc003qot.3_Silent_p.I1031I|SYNE1_uc003qou.3_Silent_p.I1024I|SYNE1_uc010kjb.1_Silent_p.I1007I|SYNE1_uc003qow.2_Silent_p.I319I|SYNE1_uc003qox.1_Silent_p.I540I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1024	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCCACATCAATCTTCAGAT	0.413										HNSCC(10;0.0054)			G	152772296	A	G	152772296	2	3	235	1	0	0	0	0	0	0	0	1	15442	126	5	3		3	SYNE1	6	152772296	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2749278	152772296	18342771	542	118135											
TIAM2	26230	broad.mit.edu	37	chr6	155451055	155451055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgcccctctcccacggactCtcgcctgcggtccagcaaag	9	19	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155451055C>A	uc003qqb.2	+	6	1971	c.698C>A	c.(697-699)TCT>TAT	p.S233Y	TIAM2_uc003qqe.2_Missense_Mutation_p.S233Y	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	233					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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCACGGACTCTCGCCTGCGG	0.637													A	155451055	C	A	155451055	3	1	235	1	0	0	0	0	1	0	0	0	15888	913	32	5	700	5	TIAM2	6	155451055	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2678759	155451055	15664012	543	118136											
TIAM2	26230	broad.mit.edu	37	chr6	155458397	155458397	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggatcctcccaggcatcTgcttttctgtggtcaggggg	14	11	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155458397T>C	uc003qqb.2	+	7	2554	c.1281T>C	c.(1279-1281)TCT>TCC	p.S427S	TIAM2_uc003qqe.2_Silent_p.S427S|TIAM2_uc010kjj.2_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	427					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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCAGGCATCTGCTTTTCTGT	0.527													C	155458397	T	C	155458397	2	2	235	1	0	0	0	0	0	0	0	1	15888	1567	55	3		3	TIAM2	6	155458397	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	7342	155458397	15656670	544	118137											
NOX3	50508	broad.mit.edu	37	chr6	155757642	155757643	+	Frame_Shift_Ins	INS	-	-	AG													tacagaaggtgatgttgtgcINSagagagagactgtcttgggt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155757642_155757643insAG	uc003qqm.2	-	7	810_811	c.707_708insCT	c.(706-708)CTGfs	p.L236fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	236	Extracellular (Potential).|Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGATGTTGTGCAGAGAGAGACT	0.446													AG	155757643	-	AG	155757642	7	5	235	1	0	1	1	0	0	0	0	0	10557	697	25	0	1026	0	NOX3	6	155757642	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	299245	155757642	15357425	545	118138	582	2									
NOX3	50508	broad.mit.edu	37	chr6	155757643	155757644	+	Frame_Shift_Ins	INS	-	-	AG													acagaaggtgatgttgtgcaINSgagagagactgtcttgggtt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:155757642_155757643C>CAG	uc003qqm.3	-	6	810_811	c.707_708G>CTG	c.(706-708)ctgfs	p.L236fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	236	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)		TGATGTTGTGCAGAGAGAGACT	0.446													AG	155757644	-	AG	155757643	7	5	235	1	0	1	1	0	0	0	0	0	10557	188	7	0	1027	0	NOX3	6	155757643	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	155757643	15357424	546	118139	582	2									
SYNJ2	8871	broad.mit.edu	37	chr6	158449919	158449919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggccaaggaggaggaaCgcctcatagctttgaagaaa	13	7	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:158449919C>T	uc003qqx.1	+	3	421	c.346C>T	c.(346-348)CGC>TGC	p.R116C	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R116C|SYNJ2_uc003qqy.1_Translation_Start_Site|SYNJ2_uc011efn.1_Missense_Mutation_p.R65C|SYNJ2_uc010kjo.1_Missense_Mutation_p.R65C	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	116							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGGAGGAACGCCTCATAGC	0.507													T	158449919	C	T	158449919	3	4	235	1	0	0	0	0	1	0	0	0	15450	536	19	1	356	1	SYNJ2	6	158449919	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2692276	158449919	12665148	547	118140											
TULP4	56995	broad.mit.edu	37	chr6	158924493	158924493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatccatggagttcctaCagcgcctgcccgcccatgca	9	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:158924493C>T	uc003qrf.2	+	13	5155	c.3798C>T	c.(3796-3798)TAC>TAT	p.Y1266Y	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1266					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		GGAGTTCCTACAGCGCCTGCC	0.632													T	158924493	C	T	158924493	2	4	235	1	0	0	0	0	0	0	0	1	16773	489	17	4		4	TULP4	6	158924493	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	474574	158924493	12190574	548	118141											
IGF2R	3482	broad.mit.edu	37	chr6	160468904	160468904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggaatgcgtagtgacCgacccctccacgctggagca	11	16	0	1	rs145047577		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:160468904C>T	uc003qta.2	+	17	2458	c.2310C>T	c.(2308-2310)ACC>ACT	p.T770T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	770	5.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGTAGTGACCGACCCCTCCA	0.582													T	160468904	C	T	160468904	2	4	235	1	0	0	0	0	0	0	0	1	7576	639	23	1		1	IGF2R	6	160468904	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1544411	160468904	10646163	549	118142											
SLC22A1	6580	broad.mit.edu	37	chr6	160557309	160557309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaacactgaagcaatAaagataatggaccacatcgc	7	8	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:160557309A>G	uc003qtc.2	+	5	1002	c.897A>G	c.(895-897)ATA>ATG	p.I299M	SLC22A1_uc003qtd.2_Missense_Mutation_p.I299M	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	299	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CTGAAGCAATAAAGATAATGG	0.473													G	160557309	A	G	160557309	3	3	235	1	0	0	0	0	1	0	0	0	14440	352	13	3	915	3	SLC22A1	6	160557309	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	88405	160557309	10557758	550	118143											
LPA	4018	broad.mit.edu	37	chr6	161032593	161032593	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaaagaacaaagacataCgcatttgggtagtattctgg	11	5	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:161032593C>T	uc003qtl.2	-	17	2723	c.2603_splice	c.e17+1	p.A868_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor						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			ovary(3)|skin(2)|pancreas(1)	6		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)	CAAAGACATACGCATTTGGGT	0.463													T	161032593	C	T	161032593	5	4	235	1	0	0	0	0	0	0	1	0	8903	550	19	1	3614	1	LPA	6	161032593	Splice_Site	SNP	C	TCGA-F1-6177-01A-11D-1800-08	475284	161032593	10082474	551	118144											
PLG	5340	broad.mit.edu	37	chr6	161139414	161139414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggctgttaccgtgtcCgggcacacctgtcagcactg	12	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:161139414C>T	uc003qtm.3	+	8	939	c.876C>T	c.(874-876)TCC>TCT	p.S292S		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	292	Kringle 3.				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			skin(3)|ovary(1)	4				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)	TTACCGTGTCCGGGCACACCT	0.547													T	161139414	C	T	161139414	2	4	235	1	0	0	0	0	0	0	0	1	12086	639	23	1		1	PLG	6	161139414	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	106821	161139414	9975653	552	118145											
PARK2	5071	broad.mit.edu	37	chr6	162394359	162394359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgcacgtaatgcaagTgatgttccgactatttgttg	11	7	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:162394359T>C	uc003qtx.3	-	6	843	c.709A>G	c.(709-711)ACT>GCT	p.T237A	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.T46A|PARK2_uc003qtw.3_Missense_Mutation_p.T46A|PARK2_uc003qty.3_Missense_Mutation_p.T209A|PARK2_uc003qtz.3_Missense_Mutation_p.T88A|PARK2_uc010kke.1_Missense_Mutation_p.T237A	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	237	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTAATGCAAGTGATGTTCCGA	0.443													C	162394359	T	C	162394359	3	2	235	1	0	0	0	0	1	0	0	0	11449	1696	59	3	716	3	PARK2	6	162394359	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1254945	162394359	8720708	553	118146											
T	6862	broad.mit.edu	37	chr6	166580950	166580950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctctcctccaggcccaCgcgcagttcgcgctctgtgg	11	18	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:166580950C>T	uc003quu.1	-	2	623	c.130G>A	c.(130-132)GTG>ATG	p.V44M	T_uc003qut.1_Missense_Mutation_p.V44M|T_uc003quv.1_Missense_Mutation_p.V44M	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	44					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		TCCAGGCCCACGCGCAGTTCG	0.657									Chordoma_Familial_Clustering_of				T	166580950	C	T	166580950	3	4	235	1	0	0	0	0	1	0	0	0	15485	536	19	1	1209	1	T	6	166580950	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4186591	166580950	4534117	554	118147											
PRR18	285800	broad.mit.edu	37	chr6	166721232	166721232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagattcaggcagaagcgCgcagcggagtctggacaagg	17	8	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr6:166721232C>T	uc003quw.1	-	1	640	c.399G>A	c.(397-399)GCG>GCA	p.A133A		NM_175922	NP_787118	Q8N4B5	PRR18_HUMAN	proline rich region 18	133						endoplasmic reticulum					0		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		GGCAGAAGCGCGCAGCGGAGT	0.716													T	166721232	C	T	166721232	2	4	235	1	0	0	0	0	0	0	0	1	12590	755	27	1		1	PRR18	6	166721232	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	140282	166721232	4393835	555	118148											
HEATR2	54919	broad.mit.edu	37	chr7	796442	796442	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagatccgcagagctcgtCgggacgtttgtcagccctga	12	13	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:796442C>T	uc010krz.1	+	6	1301	c.1281C>T	c.(1279-1281)GTC>GTT	p.V427V	HEATR2_uc003siz.2_Silent_p.V295V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	427							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGAGCTCGTCGGGACGTTTG	0.607													T	796442	C	T	796442	2	4	235	1	0	0	0	0	0	0	0	1	7028	871	31	1		1	HEATR2	7	796442	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08		796442	158342221	556	118149											
EIF3B	8662	broad.mit.edu	37	chr7	2404086	2404086	+	Frame_Shift_Del	DEL	G	G	-													tcaaagaggcattgctctatGggggggagagaaattcaagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:2404086delG	uc003slx.2	+	6	1162	c.1079delG	c.(1078-1080)TGGfs	p.W360fs	EIF3B_uc003sly.2_Frame_Shift_Del_p.W360fs|EIF3B_uc003slz.1_Frame_Shift_Del_p.W321fs|EIF3B_uc003sma.2_Frame_Shift_Del_p.W88fs	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	360	Sufficient for interaction with EIF3E.|WD 1.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATTGCTCTATGGGGGGGAGAG	0.478													-	2404086	G	-	2404086	7	5	235	1	0	1	0	1	0	0	0	0	5013	1357	47	0	1101	0	EIF3B	7	2404086	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1607644	2404086	156734577	557	118150											
SDK1	221935	broad.mit.edu	37	chr7	4304818	4304818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgaaccactacatgagCgaccccacctactacaactc	5	16	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:4304818C>T	uc003smx.2	+	45	6583	c.6444C>T	c.(6442-6444)AGC>AGT	p.S2148S	SDK1_uc010kso.2_Silent_p.S1404S|SDK1_uc003smy.2_Silent_p.S635S|SDK1_uc003smz.2_Silent_p.S208S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2148	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		ACTACATGAGCGACCCCACCT	0.687													T	4304818	C	T	4304818	2	4	235	1	0	0	0	0	0	0	0	1	13968	767	27	1		1	SDK1	7	4304818	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1900732	4304818	154833845	558	118151											
RADIL	55698	broad.mit.edu	37	chr7	4917266	4917266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtccacctccttggctgCcagctcctccacgtccgacc	9	19	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:4917266C>T	uc003snj.1	-	2	678	c.505G>A	c.(505-507)GCA>ACA	p.A169T	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	169					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCCTTGGCTGCCAGCTCCTCC	0.607													T	4917266	C	T	4917266	3	4	235	1	0	0	0	0	1	0	0	0	12997	739	26	2	2778	2	RADIL	7	4917266	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	612448	4917266	154221397	559	118152											
SLC29A4	222962	broad.mit.edu	37	chr7	5331406	5331406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcgggaccaggcctaCgccatcaacctggccgctgt	10	16	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:5331406C>T	uc003sod.2	+	5	659	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.Y166Y|SLC29A4_uc003soe.2_Missense_Mutation_p.T154M	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	166	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ACCAGGCCTACGCCATCAACC	0.637													T	5331406	C	T	5331406	2	4	235	1	0	0	0	0	0	0	0	1	14537	547	19	1		1	SLC29A4	7	5331406	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	414140	5331406	153807257	560	118153											
FSCN1	6624	broad.mit.edu	37	chr7	5632920	5632920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggcggcaccgaggaccGcctgtcctgcttcgcgcaga	13	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:5632920G>A	uc003sou.2	+	1	467	c.353G>A	c.(352-354)CGC>CAC	p.R118H		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	118					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ACCGAGGACCGCCTGTCCTGC	0.682													A	5632920	G	A	5632920	3	1	235	1	0	0	0	0	1	0	0	0	6067	1087	38	1	355	1	FSCN1	7	5632920	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	301514	5632920	153505743	561	118154											
USP42	84132	broad.mit.edu	37	chr7	6196576	6196577	+	Frame_Shift_Del	DEL	CT	CT	-													gagagcccagggtggctttcCtctctctggtggcccgcctc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:6196576_6196577delCT	uc011jwo.1	+	16	3956_3957	c.3833_3834delCT	c.(3832-3834)CCTfs	p.P1278fs	USP42_uc011jwp.1_Frame_Shift_Del_p.P1278fs|USP42_uc011jwq.1_Frame_Shift_Del_p.P1085fs	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1278					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GGTGGCTTTCCTCTCTCTGGTG	0.535													-	6196577	CT	-	6196576	7	5	235	1	0	1	0	1	0	0	0	0	17070	681	24	0	2447	0	USP42	7	6196576	Frame_Shift_Del	DEL	CT	TCGA-F1-6177-01A-11D-1800-08	563656	6196576	152942087	562	118155											
DAGLB	221955	broad.mit.edu	37	chr7	6449537	6449537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctctgtcggagaccacGctgtccaaggcccgcatcag	12	16	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:6449537G>A	uc003sqa.2	-	15	2120	c.1950C>T	c.(1948-1950)AGC>AGT	p.S650S	DAGLB_uc003spy.2_Silent_p.S196S|DAGLB_uc003spz.2_Silent_p.S347S|DAGLB_uc011jwt.1_Silent_p.S464S|DAGLB_uc011jwu.1_Silent_p.S521S|DAGLB_uc003sqb.2_Silent_p.S369S|DAGLB_uc003sqc.2_Silent_p.S369S|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.S609S	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	650	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CGGAGACCACGCTGTCCAAGG	0.597													A	6449537	G	A	6449537	2	1	235	1	0	0	0	0	0	0	0	1	4227	1078	38	1		1	DAGLB	7	6449537	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	252961	6449537	152689126	563	118156											
TMEM106B	54664	broad.mit.edu	37	chr7	12263988	12263988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagttatgatgttcagaagCgtacaatttatttaaatatc	6	5	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:12263988C>T	uc011jxk.1	+	5	818	c.418C>T	c.(418-420)CGT>TGT	p.R140C	TMEM106B_uc003ssh.2_Missense_Mutation_p.R140C	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	140						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTTCAGAAGCGTACAATTTA	0.343													T	12263988	C	T	12263988	3	4	235	1	0	0	0	0	1	0	0	0	16018	768	27	1	428	1	TMEM106B	7	12263988	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5814451	12263988	146874675	564	118157											
OSBPL3	26031	broad.mit.edu	37	chr7	24874171	24874171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtactccagctcctcGcagagcctctgcagcgtgtt	10	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:24874171G>A	uc003sxf.2	-	15	2085	c.1680C>T	c.(1678-1680)TGC>TGT	p.C560C	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.C524C|OSBPL3_uc003sxh.2_Silent_p.C529C|OSBPL3_uc003sxi.2_Silent_p.C493C|OSBPL3_uc003sxj.1_Silent_p.C289C|OSBPL3_uc003sxk.1_Silent_p.C258C	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	560					lipid transport		lipid binding|protein binding			skin(1)	1						CCAGCTCCTCGCAGAGCCTCT	0.622													A	24874171	G	A	24874171	2	1	235	1	0	0	0	0	0	0	0	1	11279	1079	38	1		1	OSBPL3	7	24874171	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	12610183	24874171	134264492	565	118158											
CCDC129	223075	broad.mit.edu	37	chr7	31617908	31617908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgctcatctatgccgGccaagcaggctcctccttcc	9	17	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:31617908G>A	uc003tcj.1	+	8	2023	c.1030G>A	c.(1030-1032)GCC>ACC	p.A344T	CCDC129_uc011kad.1_Missense_Mutation_p.A354T|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.A370T|CCDC129_uc003tck.1_Missense_Mutation_p.A252T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	344											0						ATCTATGCCGGCCAAGCAGGC	0.498													A	31617908	G	A	31617908	3	1	235	1	0	0	0	0	1	0	0	0	2764	1203	42	2	1056	2	CCDC129	7	31617908	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6743737	31617908	127520755	566	118159											
KBTBD2	25948	broad.mit.edu	37	chr7	32914609	32914609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatatatatgcttacctgtaGgaagcaagctgtttcataaa	7	6	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:32914609G>T	uc003tdb.2	-	3	990	c.331C>A	c.(331-333)CTA>ATA	p.L111I	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	111											0			GBM - Glioblastoma multiforme(11;0.0499)			CTTACCTGTAGGAAGCAAGCT	0.234													T	32914609	G	T	32914609	3	4	235	1	0	0	0	0	1	0	0	0	7993	991	35	5	1548	5	KBTBD2	7	32914609	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1296701	32914609	126224054	567	118160											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-													agcttatgtccagcagagctGggggggtgcaacccggggga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)					-	44120414	G	-	44120414	7	5	235	1	0	1	0	1	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	11205805	44120414	115018249	568	118161											
GCK	2645	broad.mit.edu	37	chr7	44189576	44189576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccctcacccctctccGtttgatagcgtctcgcagaa	8	17	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44189576G>A	uc003tkl.2	-	5	1041	c.571C>T	c.(571-573)CGG>TGG	p.R191W	GCK_uc003tkj.1_Missense_Mutation_p.R190W|GCK_uc003tkk.1_Missense_Mutation_p.R192W	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	191					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			skin(3)|lung(1)	4						ACCCCTCTCCGTTTGATAGCG	0.632													A	44189576	G	A	44189576	3	1	235	1	0	0	0	0	1	0	0	0	6293	1144	40	1	850	1	GCK	7	44189576	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	69162	44189576	114949087	569	118162											
NPC1L1	29881	broad.mit.edu	37	chr7	44574135	44574135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgaccagggaggagcGgatacccaagtaggagaaga	16	7	0	3	rs114737991	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44574135G>A	uc003tlb.2	-	6	2133	c.2077C>T	c.(2077-2079)CGC>TGC	p.R693C	NPC1L1_uc003tlc.2_Missense_Mutation_p.R693C|NPC1L1_uc011kbw.1_Missense_Mutation_p.R693C|NPC1L1_uc003tld.2_Missense_Mutation_p.R693C	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	693	SSD.|Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	AGGGAGGAGCGGATACCCAAG	0.587											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44574135	G	A	44574135	3	1	235	1	0	0	0	0	1	0	0	0	10571	1116	39	1	2062	1	NPC1L1	7	44574135	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	384559	44574135	114564528	570	118163											
ZMIZ2	83637	broad.mit.edu	37	chr7	44800124	44800124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttacatgtcaccaaaccAagaggtcaagtctcccttct	5	15	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:44800124A>G	uc003tlr.2	+	9	1295	c.1172A>G	c.(1171-1173)CAA>CGA	p.Q391R	ZMIZ2_uc003tlq.2_Missense_Mutation_p.Q333R|ZMIZ2_uc003tls.2_Missense_Mutation_p.Q365R|ZMIZ2_uc003tlt.2_Missense_Mutation_p.Q14R|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	391	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TCACCAAACCAAGAGGTCAAG	0.592													G	44800124	A	G	44800124	3	3	235	1	0	0	0	0	1	0	0	0	17694	130	5	3	1202	3	ZMIZ2	7	44800124	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	225989	44800124	114338539	571	118164											
ABCA13	154664	broad.mit.edu	37	chr7	48314550	48314550	+	Frame_Shift_Del	DEL	A	A	-													tcctgcagggagtacctggtAaaaacatcactgaaggcctc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:48314549_48314549TA>T	uc003toq.2	+	16	5310	c.5286_5286TA>T	c.(5284-5286)ggtfs	p.G1762fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.G1265fs|ABCA13_uc022acp.1_Frame_Shift_Del_p.G261fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1762					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						GAGTACCTGGTAAAAACATCA	0.448													-	48314550	A	-	48314550	7	5	235	1	0	1	0	1	0	0	0	0	31	363	13	0	5182	0	ABCA13	7	48314550	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	3514426	48314550	110824113	572	118165											
IKZF1	10320	broad.mit.edu	37	chr7	50450374	50450374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgcctgccgccggagggaCgccctcactggccacctgag	13	17	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:50450374C>T	uc003tow.3	+	6	726	c.558C>T	c.(556-558)GAC>GAT	p.D186D	IKZF1_uc003tox.3_Silent_p.D186D|IKZF1_uc003toy.3_Silent_p.D186D|IKZF1_uc011kck.1_Silent_p.D99D|IKZF1_uc003toz.3_Silent_p.D156D|IKZF1_uc010kyx.2_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	186	C2H2-type 3.|Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGGAGGGACGCCCTCACTG	0.652			D		ALL								T	50450374	C	T	50450374	2	4	235	1	0	0	0	0	0	0	0	1	7614	535	19	1		1	IKZF1	7	50450374	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2135824	50450374	108688289	573	118166											
IKZF1	10320	broad.mit.edu	37	chr7	50468106	50468106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccgagaactcgcaggaCgcgctccgcgtggtcagcac	13	16	1	1	rs143013761	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:50468106C>T	uc003tow.3	+	9	1509	c.1341C>T	c.(1339-1341)GAC>GAT	p.D447D	IKZF1_uc003tox.3_Silent_p.D405D|IKZF1_uc003toy.3_Silent_p.D405D|IKZF1_uc011kck.1_Silent_p.D360D|IKZF1_uc003toz.3_Silent_p.D417D|IKZF1_uc010kyx.2_Silent_p.D187D|IKZF1_uc003tpa.3_Silent_p.D189D	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	447					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACTCGCAGGACGCGCTCCGCG	0.652			D		ALL								T	50468106	C	T	50468106	2	4	235	1	0	0	0	0	0	0	0	1	7614	535	19	1		1	IKZF1	7	50468106	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	17732	50468106	108670557	574	118167											
GRB10	2887	broad.mit.edu	37	chr7	50799979	50799979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccatacctggtagtacGgatggtgcaaaaaggaatct	11	9	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:50799979G>A	uc003tpi.2	-	1	72	c.41C>T	c.(40-42)CCG>CTG	p.P14L	GRB10_uc003tpj.2_Missense_Mutation_p.P14L|GRB10_uc003tpk.2_Missense_Mutation_p.P14L|GRB10_uc010kzb.2_Intron|GRB10_uc003tpl.2_Intron|GRB10_uc003tpm.2_Intron|GRB10_uc003tpn.2_Intron	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	14					insulin receptor signaling pathway|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|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					CTGGTAGTACGGATGGTGCAA	0.532									Russell-Silver_syndrome				A	50799979	G	A	50799979	3	1	235	1	0	0	0	0	1	0	0	0	6756	1116	39	1	1807	1	GRB10	7	50799979	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	331873	50799979	108338684	575	118168											
EGFR	1956	broad.mit.edu	37	chr7	55269026	55269026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcccctccacgtcacGgactcccctcctgagctctc	7	21	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:55269026G>A	uc003tqk.2	+	25	3338	c.3092G>A	c.(3091-3093)CGG>CAG	p.R1031Q	EGFR_uc010kzg.1_Missense_Mutation_p.R986Q|EGFR_uc011kco.1_Missense_Mutation_p.R978Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	1031	Cytoplasmic (Potential).|Ser-rich.				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			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	TCCACGTCACGGACTCCCCTC	0.507		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55269026	G	A	55269026	3	1	235	1	0	0	0	0	1	0	0	0	4967	1116	39	1	3454	1	EGFR	7	55269026	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4469047	55269026	103869637	576	118169											
CRCP	27297	broad.mit.edu	37	chr7	65599284	65599284	+	Frame_Shift_Del	DEL	A	A	-													cagacgttaaaatacatatcAaaaacaccatgcaggcacca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:65599283_65599283CA>C	uc003tus.3	+	3	306	c.161_161CA>C	c.(160-162)tcafs	p.S54fs	CRCP_uc003tuv.3_Non-coding_Transcript|CRCP_uc011kdw.2_Frame_Shift_Del_p.S47fs|CRCP_uc003tut.3_Frame_Shift_Del_p.S21fs|CRCP_uc003tuu.3_Intron	NM_014478	NP_055293	O75575	RPC9_HUMAN	Homo sapiens CGRP receptor component (CRCP), transcript variant 1, mRNA.	54					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	DNA-directed RNA polymerase activity|calcitonin receptor activity|nucleotide binding			cervix(1)|kidney(1)|lung(4)	6						AAATACATATCAAAAACACCA	0.348													-	65599284	A	-	65599284	7	5	235	1	0	1	0	1	0	0	0	0	3852	117	5	0	266	0	CRCP	7	65599284	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	10330258	65599284	93539379	577	118170											
NSUN5	55695	broad.mit.edu	37	chr7	72722449	72722451	+	In_Frame_Del	DEL	CTT	CTT	-													ttggccaggtgcggccgcagCttcttctccgcacggaggag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:72722448_72722450GCTT>G	uc003txw.3	-	1	271_273	c.194_196AAGC>C	c.(193-198)aagctg>aCtg	p.65_66KL>T	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_In_Frame_Del_p.65_66KL>T|NSUN5_uc003txv.3_In_Frame_Del_p.65_66KL>T|NSUN5_uc003txx.3_In_Frame_Del_p.65_66KL>T	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	65							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGCGGCCGCAGCTTCTTCTCCGC	0.66													-	72722451	CTT	-	72722449	7	5	235	1	0	1	0	1	0	0	0	0	10681	796	28	0	1262	0	NSUN5	7	72722449	In_Frame_Del	DEL	CTT	TCGA-F1-6177-01A-11D-1800-08	7123165	72722449	86416214	578	118171											
POM121C	100101267	broad.mit.edu	37	chr7	75048170	75048170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggaaaatgaaggggccGccgatcctggaaagattcaa	12	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:75048170G>A	uc003udk.3	-	15	3758	c.2873C>T	c.(2872-2874)GCG>GTG	p.A958V		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1200	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						TGAAGGGGCCGCCGATCCTGG	0.572													A	75048170	G	A	75048170	3	1	235	1	0	0	0	0	1	0	0	0	12240	1087	38	1	94	1	POM121C	7	75048170	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2325721	75048170	84090493	579	118172											
SEMA3E	9723	broad.mit.edu	37	chr7	83037703	83037703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcaacagacgctcatcGtcatgctcagtgcggatatg	9	12	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:83037703G>A	uc003uhy.1	-	6	1117	c.651C>T	c.(649-651)GAC>GAT	p.D217D		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	217	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D217D(1)		ovary(3)	3		Medulloblastoma(109;0.109)				GACGCTCATCGTCATGCTCAG	0.448													A	83037703	G	A	83037703	2	1	235	1	0	0	0	0	0	0	0	1	14028	1136	40	1		1	SEMA3E	7	83037703	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7989533	83037703	76100960	580	118173											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						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)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	235	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-F1-6177-01A-11D-1800-08	3504820	86542523	72596140	581	118174											
RUNDC3B	154661	broad.mit.edu	37	chr7	87436695	87436695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatattcacaggactgtgCtaaagaataatgatttaaga	7	4	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:87436695C>T	uc003ujb.2	+	10	1426	c.1015C>T	c.(1015-1017)CTA>TTA	p.L339L	RUNDC3B_uc011khd.1_Silent_p.L322L|RUNDC3B_uc011khe.1_Silent_p.L322L|RUNDC3B_uc003ujc.2_Intron|RUNDC3B_uc003ujd.2_Intron	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	339	Potential.									skin(1)	1	Esophageal squamous(14;0.00164)					CAGGACTGTGCTAAAGAATAA	0.428													T	87436695	C	T	87436695	2	4	235	1	0	0	0	0	0	0	0	1	13745	796	28	2		2	RUNDC3B	7	87436695	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	894172	87436695	71701968	582	118175											
AKAP9	10142	broad.mit.edu	37	chr7	91715653	91715653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgttttactagcagcatttCggacggagctgacagctcta	11	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:91715653C>T	uc003ulg.2	+	37	9361	c.9136C>T	c.(9136-9138)CGG>TGG	p.R3046W	AKAP9_uc003ulf.2_Missense_Mutation_p.R3038W|AKAP9_uc003uli.2_Missense_Mutation_p.R2669W|AKAP9_uc003ulj.2_Missense_Mutation_p.R816W|AKAP9_uc003ulk.2_Missense_Mutation_p.R321W	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3050					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			AGCAGCATTTCGGACGGAGCT	0.408			T	BRAF	papillary thyroid								T	91715653	C	T	91715653	3	4	235	1	0	0	0	0	1	0	0	0	459	875	31	1	9282	1	AKAP9	7	91715653	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4278958	91715653	67423010	583	118176											
CASD1	64921	broad.mit.edu	37	chr7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-													ggttggcatgtatagctgcaTttttttgtggactcctcatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:94185017delT	uc003uni.3	+	18	2568	c.2341delT	c.(2341-2343)TTTfs	p.F781fs	CASD1_uc003unj.3_Frame_Shift_Del_p.F781fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	781	Helical; (Potential).					integral to membrane				ovary(2)	2	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)			TATAGCTGCATTTTTTTGTGG	0.338													-	94185017	T	-	94185017	7	5	235	1	0	1	0	1	0	0	0	0	2664	1493	52	0	2411	0	CASD1	7	94185017	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	2469364	94185017	64953646	584	118177											
LMTK2	22853	broad.mit.edu	37	chr7	97821334	97821334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctttcagatcctgggccCggaaagcaagatgacagcgg	13	11	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:97821334C>T	uc003upd.1	+	11	1850	c.1557C>T	c.(1555-1557)CCC>CCT	p.P519P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	519					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					ATCCTGGGCCCGGAAAGCAAG	0.542													T	97821334	C	T	97821334	2	4	235	1	0	0	0	0	0	0	0	1	8859	639	23	1		1	LMTK2	7	97821334	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3636317	97821334	61317329	585	118178											
TRRAP	8295	broad.mit.edu	37	chr7	98557049	98557049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgaagactgcgttgcGgccagacatgtggcccaagt	12	12	1	3	rs149626121	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:98557049G>A	uc003upp.2	+	44	6613	c.6404G>A	c.(6403-6405)CGG>CAG	p.R2135Q	TRRAP_uc011kis.1_Missense_Mutation_p.R2117Q|TRRAP_uc003upr.2_Missense_Mutation_p.R1834Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2135	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			ACTGCGTTGCGGCCAGACATG	0.582													A	98557049	G	A	98557049	3	1	235	1	0	0	0	0	1	0	0	0	16598	1116	39	1	6516	1	TRRAP	7	98557049	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	735715	98557049	60581614	586	118179											
ARPC1B	10095	broad.mit.edu	37	chr7	98988840	98988840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacactaccactgctggcGctgaccttcatcacagacaa	7	14	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:98988840G>A	uc003upz.2	+	7	836	c.747G>A	c.(745-747)GCG>GCA	p.A249A	ARPC1B_uc003uqa.2_Silent_p.A249A|ARPC1B_uc003uqb.2_Silent_p.A249A|ARPC1B_uc003uqc.2_Silent_p.A249A|ARPC1B_uc003uqd.2_Silent_p.A61A	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	249	WD 5.				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	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)			CACTGCTGGCGCTGACCTTCA	0.627													A	98988840	G	A	98988840	2	1	235	1	0	0	0	0	0	0	0	1	970	1074	38	1		1	ARPC1B	7	98988840	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	431791	98988840	60149823	587	118180											
C7orf51	222950	broad.mit.edu	37	chr7	100086958	100086958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccccccacagccttccGgacccaactgtaggccccct	7	22	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100086958G>A	uc003uvd.1	+	4	1773	c.1614G>A	c.(1612-1614)CCG>CCA	p.P538P	C7orf51_uc003uve.1_Silent_p.P320P	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	538										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCTTCCGGACCCAACTG	0.711													A	100086958	G	A	100086958	2	1	235	1	0	0	0	0	0	0	0	1	2400	1103	39	1		1	C7orf51	7	100086958	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1098118	100086958	59051705	588	118181											
GIGYF1	64599	broad.mit.edu	37	chr7	100284988	100284988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggccccatcgccttcttCgatgcttctttggtaaaagc	8	12	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100284988C>T	uc003uwg.1	-	5	1424	c.415G>A	c.(415-417)GAA>AAA	p.E139K		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	139										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCGCCTTCTTCGATGCTTCTT	0.637													T	100284988	C	T	100284988	3	4	235	1	0	0	0	0	1	0	0	0	6377	893	31	1	2772	1	GIGYF1	7	100284988	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	198030	100284988	58853675	589	118182											
EPHB4	2050	broad.mit.edu	37	chr7	100417393	100417393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgggtcggcactcccgGcagcggagggcgtaggtgag	18	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100417393G>A	uc003uwn.1	-	6	1574	c.1083C>T	c.(1081-1083)TGC>TGT	p.C361C	EPHB4_uc003uwm.1_Silent_p.C268C|EPHB4_uc010lhj.1_Silent_p.C361C|EPHB4_uc011kkf.1_Silent_p.C361C|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Silent_p.C361C	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	361	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCACTCCCGGCAGCGGAGGG	0.706													A	100417393	G	A	100417393	2	1	235	1	0	0	0	0	0	0	0	1	5177	1195	42	2		2	EPHB4	7	100417393	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	132405	100417393	58721270	590	118183											
SLC12A9	56996	broad.mit.edu	37	chr7	100463810	100463810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctggggcctcgggaGgcgcctggggcggccgaggg	22	12	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100463810G>T	uc003uwp.2	+	14	2470	c.2328G>T	c.(2326-2328)GAG>GAT	p.E776D	SLC12A9_uc011kki.1_Missense_Mutation_p.E307D|SLC12A9_uc003uwr.2_Missense_Mutation_p.E512D|SLC12A9_uc003uws.2_Missense_Mutation_p.E307D|SLC12A9_uc003uwt.2_Missense_Mutation_p.E512D|SLC12A9_uc003uwv.2_Missense_Mutation_p.E307D|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	776	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCTCGGGAGGCGCCTGGGG	0.716													T	100463810	G	T	100463810	3	4	235	1	0	0	0	0	1	0	0	0	14390	991	35	5	2378	5	SLC12A9	7	100463810	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	46417	100463810	58674853	591	118184											
ACHE	43	broad.mit.edu	37	chr7	100491548	100491548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtatagggtgtccacataTtggtagcagacactctggaa	13	7	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100491548T>C	uc003uxd.2	-	1	462	c.306A>G	c.(304-306)CAA>CAG	p.Q102Q	ACHE_uc003uxe.2_Silent_p.Q102Q|ACHE_uc003uxf.2_Silent_p.Q102Q|ACHE_uc003uxg.2_Silent_p.Q102Q|ACHE_uc003uxh.2_Silent_p.Q102Q|ACHE_uc003uxi.2_Silent_p.Q102Q|ACHE_uc003uxj.1_Silent_p.Q221Q	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	102					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGTCCACATATTGGTAGCAGA	0.592													C	100491548	T	C	100491548	2	2	235	1	0	0	0	0	0	0	0	1	141	1490	52	3		3	ACHE	7	100491548	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	27738	100491548	58647115	592	118185											
C7orf52	375607	broad.mit.edu	37	chr7	100817842	100817842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagccagctgtggtagcGgctaggaaggtagtccaggc	17	10	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:100817842G>A	uc003uxy.1	-	2	486	c.247C>T	c.(247-249)CGC>TGC	p.R83C	C7orf52_uc003uxz.1_Missense_Mutation_p.R83C|C7orf52_uc003uya.1_Missense_Mutation_p.R83C|C7orf52_uc003uyb.1_Missense_Mutation_p.R83C	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	83	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGTGGTAGCGGCTAGGAAGG	0.687													A	100817842	G	A	100817842	3	1	235	1	0	0	0	0	1	0	0	0	2401	1116	39	1	874	1	C7orf52	7	100817842	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	326294	100817842	58320821	593	118186											
SH2B2	10603	broad.mit.edu	37	chr7	101952177	101952177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctgacatccagggctgCgtggaccccgggtgagtgtc	16	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:101952177C>T	uc011kko.1	+	4	1086	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	304	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				0						TCCAGGGCTGCGTGGACCCCG	0.607													T	101952177	C	T	101952177	2	4	235	1	0	0	0	0	0	0	0	1	14228	776	27	1		1	SH2B2	7	101952177	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1134335	101952177	57186486	594	118187											
RELN	5649	broad.mit.edu	37	chr7	103113350	103113350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatgtaattttgtttgCgagtgctgttaaaatcaaac	7	6	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:103113350C>T	uc003vca.2	-	66	10452	c.10292G>A	c.(10291-10293)CGC>CAC	p.R3431H	RELN_uc010liz.2_Missense_Mutation_p.R3429H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3431	Arg-rich (basic).				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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTTGTTTGCGAGTGCTGTT	0.398													T	103113350	C	T	103113350	3	4	235	1	0	0	0	0	1	0	0	0	13220	768	27	1	94	1	RELN	7	103113350	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1161173	103113350	56025313	595	118188											
RINT1	60561	broad.mit.edu	37	chr7	105182902	105182902	+	Frame_Shift_Del	DEL	A	A	-													aaaagaattcgaagtgccttAaaaaatgcagaagaatcaaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:105182902delA	uc003vda.1	+	4	552	c.321delA	c.(319-321)TTAfs	p.L107fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	107	Potential.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						GAAGTGCCTTAAAAAATGCAG	0.353													-	105182902	A	-	105182902	7	5	235	1	0	1	0	1	0	0	0	0	13376	359	13	0	335	0	RINT1	7	105182902	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	2069552	105182902	53955761	596	118189											
RINT1	60561	broad.mit.edu	37	chr7	105195574	105195574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatacgattaacacaagtgaTgaaagaagagactagagctt	10	5	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:105195574T>C	uc003vda.1	+	11	1802	c.1571T>C	c.(1570-1572)ATG>ACG	p.M524T	RINT1_uc010ljj.1_Missense_Mutation_p.M99T	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	524	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						ACACAAGTGATGAAAGAAGAG	0.408													C	105195574	T	C	105195574	3	2	235	1	0	0	0	0	1	0	0	0	13376	1464	51	3	1613	3	RINT1	7	105195574	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	12672	105195574	53943089	597	118190											
CBLL1	79872	broad.mit.edu	37	chr7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-													tgactgtgctattttacatgAaaaaaagggagataagatgt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:107395908_107395908GA>G	uc003veq.3	+	4	742	c.412_412GA>G	c.(412-414)gaafs	p.E138fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	138					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						TATTTTACATGAAAAAAAGGG	0.264													-	107395909	A	-	107395909	7	5	235	1	0	1	0	1	0	0	0	0	2703	246	9	0	431	0	CBLL1	7	107395909	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	2200335	107395909	51742754	598	118191											
LAMB4	22798	broad.mit.edu	37	chr7	107708575	107708575	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtcggctgcagctggatcCgactgagccctgggggtgac	16	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:107708575C>A	uc010ljo.1	-	19	2416	c.2332G>T	c.(2332-2334)GGA>TGA	p.G778*	LAMB4_uc003vey.2_Nonsense_Mutation_p.G778*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	778	Laminin EGF-like 6.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CAGCTGGATCCGACTGAGCCC	0.552													A	107708575	C	A	107708575	4	1	235	1	0	0	0	0	0	1	0	0	8613	661	23	5	3017	5	LAMB4	7	107708575	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	312666	107708575	51430088	599	118192											
PNPLA8	50640	broad.mit.edu	37	chr7	108155904	108155907	+	Frame_Shift_Del	DEL	ATAT	ATAT	-													ttgcattactaaggaggtaaAtatatatatctacagtcaga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:108155903_108155906AATAT>A	uc003vff.1	-	3	437_440	c.30_33ATATT>T	c.(28-33)tatattfs	p.Y10fs	PNPLA8_uc003vfi.1_Intron|PNPLA8_uc003vfh.1_Frame_Shift_Del_p.Y10fs|PNPLA8_uc003vfj.1_Frame_Shift_Del_p.Y10fs|PNPLA8_uc003vfk.1_Intron	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	10					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum 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						TAAGGAGGTAAATATATATATCTA	0.333													-	108155907	ATAT	-	108155904	7	5	235	1	0	1	0	1	0	0	0	0	12171	101	4	0	2352	0	PNPLA8	7	108155904	Frame_Shift_Del	DEL	ATAT	TCGA-F1-6177-01A-11D-1800-08	447329	108155904	50982759	600	118193											
IFRD1	3475	broad.mit.edu	37	chr7	112098933	112098933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtaagagtgatgagcaaCgtgcagctgcagcgttagca	14	7	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:112098933C>T	uc003vgh.2	+	6	870	c.427C>T	c.(427-429)CGT>TGT	p.R143C	IFRD1_uc011kmn.1_Missense_Mutation_p.R93C|IFRD1_uc003vgj.2_Missense_Mutation_p.R143C|IFRD1_uc011kmo.1_Intron|IFRD1_uc011kmp.1_Missense_Mutation_p.R93C	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	143					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						TGATGAGCAACGTGCAGCTGC	0.388													T	112098933	C	T	112098933	3	4	235	1	0	0	0	0	1	0	0	0	7553	536	19	1	445	1	IFRD1	7	112098933	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3943029	112098933	47039730	601	118194											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518220	113518220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattcctgaacttctggaaActtcttcaggtttagactca	6	10	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:113518220A>G	uc010ljy.1	-	4	2958	c.2927T>C	c.(2926-2928)GTT>GCT	p.V976A		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	976					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ACTTCTGGAAACTTCTTCAGG	0.378													G	113518220	A	G	113518220	3	3	235	1	0	0	0	0	1	0	0	0	12371	43	2	3	445	3	PPP1R3A	7	113518220	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1419287	113518220	45620443	602	118195											
MET	4233	broad.mit.edu	37	chr7	116339279	116339279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagcttcccaacttcacCgcggaaacacccatccagaa	5	16	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:116339279C>T	uc003vij.2	+	2	328	c.141C>T	c.(139-141)ACC>ACT	p.T47T	MET_uc010lkh.2_Silent_p.T47T|MET_uc011knc.1_Silent_p.T47T|MET_uc011knd.1_Silent_p.T47T|MET_uc011kne.1_Silent_p.T47T|MET_uc011knf.1_Silent_p.T47T|MET_uc011kng.1_Silent_p.T47T|MET_uc011knh.1_Silent_p.T47T|MET_uc011kni.1_Silent_p.T47T|MET_uc003vii.1_Silent_p.T66T|MET_uc010lkg.2_Silent_p.T47T|MET_uc011kmz.1_Silent_p.T47T|MET_uc011kna.1_Silent_p.T47T|MET_uc011knb.1_Silent_p.T47T	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	47	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(8)		upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	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)			CCAACTTCACCGCGGAAACAC	0.438			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				T	116339279	C	T	116339279	2	4	235	1	0	0	0	0	0	0	0	1	9485	639	23	1		1	MET	7	116339279	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2821059	116339279	42799384	603	118196											
CFTR	1080	broad.mit.edu	37	chr7	117251692	117251692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggactatggacacttcGtgccttcggacggcagcctt	11	11	0	0	rs121909019		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:117251692G>A	uc003vjd.2	+	20	3329	c.3197G>A	c.(3196-3198)CGT>CAT	p.R1066H	CFTR_uc011knq.1_Missense_Mutation_p.R472H	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1066	Cytoplasmic (Potential).|ABC transmembrane type-1 2.		R -> H (in CF).|R -> L (in CF).|R -> C (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			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGACACTTCGTGCCTTCGGA	0.413									Cystic_Fibrosis				A	117251692	G	A	117251692	3	1	235	1	0	0	0	0	1	0	0	0	3294	1145	40	1	3275	1	CFTR	7	117251692	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	912413	117251692	41886971	604	118197											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431318	117431318	+	Frame_Shift_Del	DEL	G	G	-													catgcaggttggttcagtccGggggttgcagcaggccaggc					rs148428403		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:117431318delG	uc003vjf.2	-	4	2024	c.1932delC	c.(1930-1932)CCCfs	p.P644fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	644										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTTCAGTCCGGGGGTTGCAG	0.547													-	117431318	G	-	117431318	7	5	235	1	0	1	0	1	0	0	0	0	4045	1103	39	0	3139	0	CTTNBP2	7	117431318	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	179626	117431318	41707345	605	118198											
FSCN3	29999	broad.mit.edu	37	chr7	127235581	127235581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggagtccaatggcaaggAcgtgttttgcacttcccacg	11	10	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:127235581A>G	uc003vmd.1	+	2	584	c.365A>G	c.(364-366)GAC>GGC	p.D122G	FSCN3_uc003vmc.1_Missense_Mutation_p.D77G|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Missense_Mutation_p.D122G	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	122						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						AATGGCAAGGACGTGTTTTGC	0.572													G	127235581	A	G	127235581	3	3	235	1	0	0	0	0	1	0	0	0	6069	275	10	3	371	3	FSCN3	7	127235581	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	9804263	127235581	31903082	606	118199											
FAM71F1	84691	broad.mit.edu	37	chr7	128355644	128355644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagccgaaccctggagCgggcctaggtgtggaggagg	20	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:128355644C>T	uc003vno.1	+	1	202	c.149C>T	c.(148-150)GCG>GTG	p.A50V	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.A50V	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	50										skin(1)	1						AACCCTGGAGCGGGCCTAGGT	0.532													T	128355644	C	T	128355644	3	4	235	1	0	0	0	0	1	0	0	0	5612	768	27	1	151	1	FAM71F1	7	128355644	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1120063	128355644	30783019	607	118200											
CPA5	93979	broad.mit.edu	37	chr7	130007829	130007829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcatcagcaccacccTctgtgagtgagcctcccctg	10	16	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:130007829T>G	uc010lmd.1	+	13	1741	c.1121T>G	c.(1120-1122)CTC>CGC	p.L374R	CPA5_uc003vps.2_Missense_Mutation_p.L374R|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.L374R|CPA5_uc003vpu.1_Missense_Mutation_p.L374R|uc003vpv.1_RNA	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	374					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					AGCACCACCCTCTGTGAGTGA	0.572													G	130007829	T	G	130007829	3	3	235	1	0	0	0	0	1	0	0	0	3793	1551	54	5	1159	5	CPA5	7	130007829	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1652185	130007829	29130834	608	118201											
MTPN	136319	broad.mit.edu	37	chr7	135636280	135636281	+	Frame_Shift_Ins	INS	-	-	T													gtacattaatatctgctcctINSttcagcagcagaaattccag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:135636279_135636280C>CT	uc003vte.4	-	1	527_528	c.171_172G>AG	c.(169-174)aaaggafs	p.K57fs	MTPN_uc010lmv.3_Intron	NM_145808	NP_665807	P58546	MTPN_HUMAN	Homo sapiens myotrophin (MTPN), mRNA.	57					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding			endometrium(1)|lung(4)|prostate(1)	6						ATATCTGCTCCTTTCAGCAGCA	0.376													T	135636281	-	T	135636280	7	5	235	1	0	1	1	0	0	0	0	0	9957	1606	56	0	197	0	MTPN	7	135636280	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	5628451	135636280	23502383	609	118202											
SVOPL	136306	broad.mit.edu	37	chr7	138333785	138333785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgatgaggatgatgcccGggatggaggcgacgcgaatg	17	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:138333785G>A	uc011kqh.1	-	7	632	c.632C>T	c.(631-633)CCG>CTG	p.P211L	SVOPL_uc003vue.2_Missense_Mutation_p.P59L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	211	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						GATGATGCCCGGGATGGAGGC	0.607													A	138333785	G	A	138333785	3	1	235	1	0	0	0	0	1	0	0	0	15421	1116	39	1	882	1	SVOPL	7	138333785	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2697505	138333785	20804878	610	118203											
TAS2R38	5726	broad.mit.edu	37	chr7	141673015	141673015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctaaaaaagcaccaaaCacagaggacagtgcagatgc	9	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:141673015C>T	uc003vwx.1	-	1	559	c.475G>A	c.(475-477)GTT>ATT	p.V159I		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	159	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					AAGCACCAAACACAGAGGACA	0.443													T	141673015	C	T	141673015	3	4	235	1	0	0	0	0	1	0	0	0	15572	478	17	4	530	4	TAS2R38	7	141673015	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3339230	141673015	17465648	611	118204											
MGAM	8972	broad.mit.edu	37	chr7	141736720	141736720	+	Frame_Shift_Del	DEL	C	C	-													tctattgccctacctatacaCcctcttcttccgtgctcaca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:141736720delC	uc003vwy.2	+	18	2228	c.2174delC	c.(2173-2175)ACCfs	p.T725fs		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	725	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCTATACACCCTCTTCTTC	0.507													-	141736720	C	-	141736720	7	5	235	1	0	1	0	1	0	0	0	0	9541	507	18	0	2240	0	MGAM	7	141736720	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	63705	141736720	17401943	612	118205											
TAS2R60	338398	broad.mit.edu	37	chr7	143141232	143141232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaagaaggctctcctTacaacctcaggattccgaga	9	12	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:143141232T>C	uc011ktg.1	+	1	687	c.687T>C	c.(685-687)CTT>CTC	p.L229L	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	229	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					AGGCTCTCCTTACAACCTCAG	0.463													C	143141232	T	C	143141232	2	2	235	1	0	0	0	0	0	0	0	1	15582	1741	61	3		3	TAS2R60	7	143141232	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1404512	143141232	15997431	613	118206											
OR2A25	392138	broad.mit.edu	37	chr7	143771428	143771428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctacatcttcattctgtTggggaacgggacaatcctgg	11	9	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:143771428T>C	uc011ktx.1	+	1	116	c.116T>C	c.(115-117)TTG>TCG	p.L39S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					TTCATTCTGTTGGGGAACGGG	0.537													C	143771428	T	C	143771428	3	2	235	1	0	0	0	0	1	0	0	0	10978	1821	63	3	118	3	OR2A25	7	143771428	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	630196	143771428	15367235	614	118207											
OR2A2	442361	broad.mit.edu	37	chr7	143807297	143807297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgtttgtcttagtcGggcctctttccttgattctg	10	10	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:143807297G>A	uc011ktz.1	+	1	622	c.622G>A	c.(622-624)GGG>AGG	p.G208R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					TGTCTTAGTCGGGCCTCTTTC	0.522													A	143807297	G	A	143807297	3	1	235	1	0	0	0	0	1	0	0	0	10977	1116	39	1	624	1	OR2A2	7	143807297	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	35869	143807297	15331366	615	118208											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536847	146536847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgaccattatcaatggCttcaggttgactttggcaat	9	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:146536847C>T	uc003weu.1	+	3	769	c.253C>T	c.(253-255)CTT>TTT	p.L85F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	85	F5/8 type C.|Extracellular (Potential).				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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			TTATCAATGGCTTCAGGTTGA	0.468										HNSCC(39;0.1)			T	146536847	C	T	146536847	3	4	235	1	0	0	0	0	1	0	0	0	3647	797	28	2	263	2	CNTNAP2	7	146536847	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2729550	146536847	12601816	616	118209											
ZNF786	136051	broad.mit.edu	37	chr7	148768876	148768876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactgctggaggccccgcGgccttctctccaagaggccg	12	17	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:148768876G>A	uc003wfh.2	-	4	1125	c.988C>T	c.(988-990)CGC>TGC	p.R330C	ZNF786_uc011kuk.1_Missense_Mutation_p.R293C|ZNF786_uc003wfi.2_Missense_Mutation_p.R244C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GAGGCCCCGCGGCCTTCTCTC	0.711													A	148768876	G	A	148768876	3	1	235	1	0	0	0	0	1	0	0	0	18155	1116	39	1	1364	1	ZNF786	7	148768876	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2232029	148768876	10369787	617	118210											
SSPO	23145	broad.mit.edu	37	chr7	149500639	149500639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcccctgcctggtgggCgaagagctgaagtggccagg	18	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:149500639C>T	uc010lpk.2	+	55	8040	c.8040C>T	c.(8038-8040)GGC>GGT	p.G2680G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2680					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGTGGGCGAAGAGCTGA	0.667													T	149500639	C	T	149500639	2	4	235	1	0	0	0	0	0	0	0	1	15188	755	27	1		1	SSPO	7	149500639	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	731763	149500639	9638024	618	118211											
ZNF862	643641	broad.mit.edu	37	chr7	149543278	149543278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctgttccgcaagttcGgacgagggccagagccatgg	15	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:149543278G>A	uc010lpn.2	+	3	367	c.175G>A	c.(175-177)GGA>AGA	p.G59R	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	59	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CCGCAAGTTCGGACGAGGGCC	0.552													A	149543278	G	A	149543278	3	1	235	1	0	0	0	0	1	0	0	0	18192	1117	39	1	185	1	ZNF862	7	149543278	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	42639	149543278	9595385	619	118212											
NOS3	4846	broad.mit.edu	37	chr7	150698398	150698398	+	Frame_Shift_Del	DEL	G	G	-													ggagaatgagcagaaggccaGggggggctgccctgcagact							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:150698397_150698397AG>A	uc003wif.3	+	10	1608	c.1312_1312AG>A	c.(1312-1314)aggfs	p.R438fs	NOS3_uc011kuy.2_Frame_Shift_Del_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Del_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Del_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Del_p.R438fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	438	Interaction with NOSIP.				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	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme 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)	GCAGAAGGCCAGGGGGGGCTG	0.612													-	150698398	G	-	150698398	7	5	235	1	0	1	0	1	0	0	0	0	10544	1000	35	0	1351	0	NOS3	7	150698398	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1155120	150698398	8440265	620	118213											
ABCB8	11194	broad.mit.edu	37	chr7	150739068	150739068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcccgtcctgtttgggacGaccatcatggaaaacatccg	11	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:150739068G>A	uc003wil.3	+	15	1782	c.1689G>A	c.(1687-1689)ACG>ACA	p.T563T	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.T546T|ABCB8_uc011kvd.1_Silent_p.T458T|ABCB8_uc003wim.3_Silent_p.T341T|ABCB8_uc003wik.3_Silent_p.T546T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	563	ABC transporter.					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(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTTTGGGACGACCATCATGG	0.542													A	150739068	G	A	150739068	2	1	235	1	0	0	0	0	0	0	0	1	47	1045	37	1		1	ABCB8	7	150739068	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	40670	150739068	8399595	621	118214											
MLL3	58508	broad.mit.edu	37	chr7	151841898	151841898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactgtttactataaggtGcgttcagttctccagtgact	8	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151841898G>A	uc003wla.2	-	55	14462	c.14243C>T	c.(14242-14244)GCA>GTA	p.A4748V	MLL3_uc003wkz.2_Missense_Mutation_p.A3862V|MLL3_uc003wkx.2_Missense_Mutation_p.A906V|MLL3_uc003wky.2_Missense_Mutation_p.A2308V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4748					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACTATAAGGTGCGTTCAGTTC	0.448			N		medulloblastoma								A	151841898	G	A	151841898	3	1	235	1	0	0	0	0	1	0	0	0	9622	1319	46	2	512	2	MLL3	7	151841898	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1102830	151841898	7296765	622	118215											
MLL3	58508	broad.mit.edu	37	chr7	151877105	151877105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggttgccagtgttgaagaGgccctggatgaggcactgcg	16	9	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151877105G>T	uc003wla.2	-	37	7475	c.7256C>A	c.(7255-7257)CCT>CAT	p.P2419H	MLL3_uc003wkz.2_Missense_Mutation_p.P1480H|MLL3_uc003wky.2_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2419	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTGTTGAAGAGGCCCTGGATG	0.532			N		medulloblastoma								T	151877105	G	T	151877105	3	4	235	1	0	0	0	0	1	0	0	0	9622	1000	35	5	7571	5	MLL3	7	151877105	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	35207	151877105	7261558	623	118216											
MLL3	58508	broad.mit.edu	37	chr7	151891162	151891162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagttggctgagtgttcGcaggactaagtacagctgta	14	6	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151891162G>A	uc003wla.2	-	31	4811	c.4592C>T	c.(4591-4593)GCG>GTG	p.A1531V	MLL3_uc003wkz.2_Missense_Mutation_p.A592V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1531					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGAGTGTTCGCAGGACTAAG	0.398			N		medulloblastoma								A	151891162	G	A	151891162	3	1	235	1	0	0	0	0	1	0	0	0	9622	1087	38	1	10259	1	MLL3	7	151891162	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	14057	151891162	7247501	624	118217											
MLL3	58508	broad.mit.edu	37	chr7	151935847	151935847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggtttaaaaatttccCgaccttctgaaatgtctggg	10	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:151935847C>T	uc003wla.2	-	15	2816	c.2597G>A	c.(2596-2598)CGG>CAG	p.R866Q	MLL3_uc003wkz.2_5'UTR	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	866					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAAAATTTCCCGACCTTCTGA	0.418			N		medulloblastoma								T	151935847	C	T	151935847	3	4	235	1	0	0	0	0	1	0	0	0	9622	652	23	1	12318	1	MLL3	7	151935847	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	44685	151935847	7202816	625	118218											
RNF32	140545	broad.mit.edu	37	chr7	156451257	156451258	+	Frame_Shift_Ins	INS	-	-	A													ttaagaaaaaaattctttgaINSaaaaaaggtaggtaaagatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:156451256_156451257G>GA	uc003wmo.3	+	6	906_907	c.676_677G>GA	c.(676-678)gaafs	p.E226fs	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wmq.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wmr.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wms.3_Frame_Shift_Ins_p.E226fs|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Frame_Shift_Ins_p.E226fs	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	226						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)		AAAATTCTTTGAAAAAAAGGTA	0.426													A	156451258	-	A	156451257	7	5	235	1	0	1	1	0	0	0	0	0	13488	246	9	0	699	0	RNF32	7	156451257	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	4515410	156451257	2687406	626	118219											
NOM1	64434	broad.mit.edu	37	chr7	156752777	156752777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacgtgggtttttcattgaGgaaagatgatgctttatcac	10	5	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr7:156752777G>T	uc003wmy.2	+	4	1556	c.1541G>T	c.(1540-1542)AGG>ATG	p.R514M	NOM1_uc010lqp.1_5'Flank	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	514	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTTTCATTGAGGAAAGATGAT	0.438													T	156752777	G	T	156752777	3	4	235	1	0	0	0	0	1	0	0	0	10530	1000	35	5	1555	5	NOM1	7	156752777	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	301520	156752777	2385886	627	118220											
ANGPT2	285	broad.mit.edu	37	chr8	6389908	6389908	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtttggttcaacaggTttgtccctatttctatcatc	7	11	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:6389908T>A	uc003wqj.3	-	2	718	c.389A>T	c.(388-390)AAC>ATC	p.N130I	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.N130I|ANGPT2_uc010lri.2_Intron|ANGPT2_uc003wql.3_Missense_Mutation_p.N130I	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	130					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			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTTCAACAGGTTTGTCCCTAT	0.448													A	6389908	T	A	6389908	3	1	235	1	0	0	0	0	1	0	0	0	611	1725	60	5	1133	5	ANGPT2	8	6389908	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08		6389908	139974114	628	118221											
XKR6	286046	broad.mit.edu	37	chr8	10755924	10755924	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtataagagcatcattgcGatcccagccacaaagctaat	7	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:10755924G>A	uc003wtk.1	-	3	1491	c.1464C>T	c.(1462-1464)ATC>ATT	p.I488I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	488	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCATCATTGCGATCCCAGCCA	0.527													A	10755924	G	A	10755924	2	1	235	1	0	0	0	0	0	0	0	1	17432	1048	37	1		1	XKR6	8	10755924	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4366016	10755924	135608098	629	118222											
HR	55806	broad.mit.edu	37	chr8	21978590	21978590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcacactgggcagggcCggagtgacgggggcgaaggc	18	11	2	1	rs151306827	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:21978590C>T	uc003xas.2	-	10	3020	c.2355G>A	c.(2353-2355)CCG>CCA	p.P785P	HR_uc003xat.2_Silent_p.P785P	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	785							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGGCAGGGCCGGAGTGACGG	0.662													T	21978590	C	T	21978590	2	4	235	1	0	0	0	0	0	0	0	1	7347	639	23	1		1	HR	8	21978590	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	11222666	21978590	124385432	630	118223											
SFTPC	6440	broad.mit.edu	37	chr8	22021060	22021061	+	Splice_Site	INS	-	-	GT													aaaagtccacaacttccaggINStgtgtgtgtgtgggtgaaaa					rs149538549	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:22021059_22021060G>GGT	uc003xaw.4	+	7	1285	c.582_splice	c.e7+1	p.Q194_splice	SFTPC_uc003xax.4_Splice_Site_p.Q145_splice|SFTPC_uc003xay.4_Splice_Site_p.Q145_splice|SFTPC_uc003xaz.3_Splice_Site_p.Q145_splice|SFTPC_uc011kza.1_Intron|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	145	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		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)		ACAACTTCCAGGTGTGTGTGTG	0.545													GT	22021061	-	GT	22021060	8	5	235	1	0	1	1	0	0	0	1	0	14192	1275	44	0	450	0	SFTPC	8	22021060	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	42470	22021060	124342962	631	118224											
BMP1	649	broad.mit.edu	37	chr8	22064891	22064891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttcgacgggcgagacGccaaggcccccgtcctcggc	15	15	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:22064891G>A	uc003xbg.2	+	18	2681	c.2437G>A	c.(2437-2439)GCC>ACC	p.A813T	BMP1_uc011kzc.1_Missense_Mutation_p.A562T|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	813	CUB 4.				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			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGGGCGAGACGCCAAGGCCCC	0.622													A	22064891	G	A	22064891	3	1	235	1	0	0	0	0	1	0	0	0	1456	1087	38	1	2597	1	BMP1	8	22064891	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	43831	22064891	124299131	632	118225											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22972207	22972207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catactggagcctgtaacccGtgcacagagggtgtggatta	13	9	0	1	rs74480765	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:22972207G>A	uc003xcy.2	+	3	405	c.204G>A	c.(202-204)CCG>CCA	p.P68P	TNFRSF10C_uc011kzr.1_RNA	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	68					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGTAACCCGTGCACAGAGG	0.468													A	22972207	G	A	22972207	2	1	235	1	0	0	0	0	0	0	0	1	16279	1132	40	1		1	TNFRSF10C	8	22972207	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	907316	22972207	123391815	633	118226											
LOXL2	4017	broad.mit.edu	37	chr8	23159604	23159604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcagtcgatgtcatggCggtacatgtcccagcagccc	12	13	1	0	rs141432206	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:23159604C>T	uc003xdh.1	-	12	2408	c.2069G>A	c.(2068-2070)CGC>CAC	p.R690H	LOXL2_uc010lty.1_Missense_Mutation_p.R229H	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	690	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)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GATGTCATGGCGGTACATGTC	0.597													T	23159604	C	T	23159604	3	4	235	1	0	0	0	0	1	0	0	0	8900	768	27	1	267	1	LOXL2	8	23159604	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	187397	23159604	123204418	634	118227											
DOCK5	80005	broad.mit.edu	37	chr8	25224467	25224467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccttctcacaagccaagCgcaacaaaattgttaaaaag	5	10	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:25224467C>T	uc003xeg.2	+	31	3342	c.3205C>T	c.(3205-3207)CGC>TGC	p.R1069C	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R783C|DOCK5_uc003xei.2_Missense_Mutation_p.R639C|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1069						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		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)		ACAAGCCAAGCGCAACAAAAT	0.383													T	25224467	C	T	25224467	3	4	235	1	0	0	0	0	1	0	0	0	4690	768	27	1	3327	1	DOCK5	8	25224467	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2064863	25224467	121139555	635	118228											
DOCK5	80005	broad.mit.edu	37	chr8	25226177	25226177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctccggaaagccacaaTccccattttctttgatatga	7	11	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:25226177T>C	uc003xeg.2	+	33	3511	c.3374T>C	c.(3373-3375)ATC>ACC	p.I1125T	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.I839T|DOCK5_uc003xei.2_Missense_Mutation_p.I695T|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1125						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		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)		AAAGCCACAATCCCCATTTTC	0.443													C	25226177	T	C	25226177	3	2	235	1	0	0	0	0	1	0	0	0	4690	1435	50	3	3504	3	DOCK5	8	25226177	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1710	25226177	121137845	636	118229											
TRIM35	23087	broad.mit.edu	37	chr8	27145238	27145238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcatagaaagacagctcGccctcctcacactccagctc	7	17	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:27145238G>A	uc003xfl.1	-	6	1393	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	437	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		AAGACAGCTCGCCCTCCTCAC	0.682													A	27145238	G	A	27145238	2	1	235	1	0	0	0	0	0	0	0	1	16506	1074	38	1		1	TRIM35	8	27145238	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1919061	27145238	119218784	637	118230											
WRN	7486	broad.mit.edu	37	chr8	30924662	30924662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtaaatttcctctcacTgaggaccagaaactgtatgc	9	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:30924662T>C	uc003xio.3	+	6	1406	c.618T>C	c.(616-618)ACT>ACC	p.T206T		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	206	Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCCTCTCACTGAGGACCAGA	0.378			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				C	30924662	T	C	30924662	2	2	235	1	0	0	0	0	0	0	0	1	17399	1567	55	3		3	WRN	8	30924662	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3779424	30924662	115439360	638	118231											
FGFR1	2260	broad.mit.edu	37	chr8	38282215	38282215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggccggtgaggggaccGctctgtggaagatgggagag	21	6	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:38282215G>A	uc003xlp.2	-	7	1690	c.748C>T	c.(748-750)CGG>TGG	p.R250W	FGFR1_uc011lbo.1_Missense_Mutation_p.R248W|FGFR1_uc011lbp.1_Missense_Mutation_p.R161W|FGFR1_uc011lbq.1_Missense_Mutation_p.R159W|FGFR1_uc010lwk.2_Missense_Mutation_p.R242W|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R90W|FGFR1_uc011lbt.1_Missense_Mutation_p.R159W|FGFR1_uc011lbu.1_Missense_Mutation_p.R281W|FGFR1_uc011lbv.1_Missense_Mutation_p.R248W|FGFR1_uc011lbw.1_Missense_Mutation_p.R161W|FGFR1_uc011lbx.1_Missense_Mutation_p.R161W|FGFR1_uc003xlv.2_Missense_Mutation_p.R161W|FGFR1_uc003xlu.2_Missense_Mutation_p.R159W	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	250	Extracellular (Potential).		R -> W (in KAL2).		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			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	TGAGGGGACCGCTCTGTGGAA	0.602		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						A	38282215	G	A	38282215	3	1	235	1	0	0	0	0	1	0	0	0	5863	1086	38	1	2008	1	FGFR1	8	38282215	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7357553	38282215	108081807	639	118232											
FNTA	2339	broad.mit.edu	37	chr8	42939925	42939925	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatttacaaccaagtcaTagttccccctacctaattgc	4	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:42939925T>C	uc003xps.2	+	8	966	c.918T>C	c.(916-918)CAT>CAC	p.H306H	FNTA_uc003xpt.2_Silent_p.H215H|FNTA_uc003xpu.2_Silent_p.H239H|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	306					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	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)			AACCAAGTCATAGTTCCCCCT	0.343													C	42939925	T	C	42939925	2	2	235	1	0	0	0	0	0	0	0	1	5977	1403	49	3		3	FNTA	8	42939925	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	4657710	42939925	103424097	640	118233											
PRKDC	5591	broad.mit.edu	37	chr8	48744483	48744483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaggtccgtccggccggcCgcacctggagagggaaagca	16	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:48744483C>T	uc003xqi.2	-	61	8214	c.8157G>A	c.(8155-8157)GCG>GCA	p.A2719A	PRKDC_uc003xqj.2_Silent_p.A2719A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2719	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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCGGCCGGCCGCACCTGGAG	0.557								NHEJ					T	48744483	C	T	48744483	2	4	235	1	0	0	0	0	0	0	0	1	12521	639	23	1		1	PRKDC	8	48744483	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5804558	48744483	97619539	641	118234											
ST18	9705	broad.mit.edu	37	chr8	53049172	53049172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctcctgagagttggcagCcatgagggattttagagtct	13	7	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:53049172C>T	uc003xqz.2	-	14	2434	c.2278G>A	c.(2278-2280)GCT>ACT	p.A760T	ST18_uc011ldq.1_Missense_Mutation_p.A407T|ST18_uc011ldr.1_Missense_Mutation_p.A725T|ST18_uc011lds.1_Missense_Mutation_p.A665T|ST18_uc003xra.2_Missense_Mutation_p.A760T	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	760						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTGGCAGCCATGAGGGAT	0.483													T	53049172	C	T	53049172	3	4	235	1	0	0	0	0	1	0	0	0	15211	739	26	2	897	2	ST18	8	53049172	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4304689	53049172	93314850	642	118235											
NPBWR1	2831	broad.mit.edu	37	chr8	53852868	53852868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtcatgagcgccgaccGctacctggtggtgttggcca	13	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:53852868G>A	uc011ldu.1	+	1	401	c.401G>A	c.(400-402)CGC>CAC	p.R134H		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	134	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				AGCGCCGACCGCTACCTGGTG	0.667													A	53852868	G	A	53852868	3	1	235	1	0	0	0	0	1	0	0	0	10568	1087	38	1	403	1	NPBWR1	8	53852868	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	803696	53852868	92511154	643	118236											
RGS20	8601	broad.mit.edu	37	chr8	54791841	54791841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgcctgcacagctcccAgactcgcccgccgccccgaa	8	22	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:54791841A>G	uc003xrp.2	+	2	281	c.189A>G	c.(187-189)CCA>CCG	p.P63P	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	63					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CACAGCTCCCAGACTCGCCCG	0.622													G	54791841	A	G	54791841	2	3	235	1	0	0	0	0	0	0	0	1	13303	175	7	3		3	RGS20	8	54791841	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	938973	54791841	91572181	644	118237											
SOX17	64321	broad.mit.edu	37	chr8	55371702	55371702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgtgcagcacatgcaggAccaccccaactacaagtacc	9	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:55371702A>G	uc003xsb.3	+	2	596	c.392A>G	c.(391-393)GAC>GGC	p.D131G		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	131	HMG box.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CACATGCAGGACCACCCCAAC	0.692													G	55371702	A	G	55371702	3	3	235	1	0	0	0	0	1	0	0	0	14947	275	10	3	398	3	SOX17	8	55371702	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	579861	55371702	90992320	645	118238											
YTHDF3	253943	broad.mit.edu	37	chr8	64100299	64100299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaggaggaagccatgcGtagggtaagaatatagtaat	14	3	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:64100299G>A	uc003xuy.2	+	5	2046	c.1730G>A	c.(1729-1731)CGT>CAT	p.R577H	YTHDF3_uc010lys.2_Missense_Mutation_p.R521H|YTHDF3_uc003xuz.2_Missense_Mutation_p.R521H|YTHDF3_uc003xva.2_Missense_Mutation_p.R521H|YTHDF3_uc011len.1_Missense_Mutation_p.R521H	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	577											0	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)			GAAGCCATGCGTAGGGTAAGA	0.383													A	64100299	G	A	64100299	3	1	235	1	0	0	0	0	1	0	0	0	17497	1145	40	1	1743	1	YTHDF3	8	64100299	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	8728597	64100299	82263723	646	118239											
CSPP1	79848	broad.mit.edu	37	chr8	68102923	68102923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgccattgaagatgacGtcctccctccaccatcacag	6	16	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:68102923G>A	uc003xxi.2	+	29	3380	c.3349G>A	c.(3349-3351)GTC>ATC	p.V1117I	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Missense_Mutation_p.V1082I|CSPP1_uc003xxk.2_Missense_Mutation_p.V737I|CSPP1_uc010lyw.2_Missense_Mutation_p.V177I	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	1117						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	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)			TGAAGATGACGTCCTCCCTCC	0.488													A	68102923	G	A	68102923	3	1	235	1	0	0	0	0	1	0	0	0	3962	1145	40	1	3463	1	CSPP1	8	68102923	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4002624	68102923	78261099	647	118240											
ARFGEF1	10565	broad.mit.edu	37	chr8	68138270	68138270	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctatacctgaggtctatcAgacacatattttgcacaatg	7	10	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:68138270A>G	uc003xxo.1	-	28	4455	c.4065T>C	c.(4063-4065)TCT>TCC	p.S1355S	ARFGEF1_uc003xxl.1_Silent_p.S809S|ARFGEF1_uc003xxn.1_Silent_p.S338S	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1355					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			GAGGTCTATCAGACACATATT	0.368													G	68138270	A	G	68138270	2	3	235	1	0	0	0	0	0	0	0	1	852	175	7	3		3	ARFGEF1	8	68138270	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	35347	68138270	78225752	648	118241											
PI15	51050	broad.mit.edu	37	chr8	75737491	75737491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacccctcaaaatgataGcaatctctgccgtcagcagt	6	15	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:75737491G>A	uc003yal.2	+	2	186	c.7G>A	c.(7-9)GCA>ACA	p.A3T	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.A3T	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	3						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAAAATGATAGCAATCTCTGC	0.478													A	75737491	G	A	75737491	3	1	235	1	0	0	0	0	1	0	0	0	11868	971	34	2	9	2	PI15	8	75737491	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7599221	75737491	70626531	649	118242											
CRISPLD1	83690	broad.mit.edu	37	chr8	75937828	75937828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaatccacattatgctcGtgtaattggaactcgagttt	8	8	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:75937828G>A	uc003yan.2	+	13	1667	c.1292G>A	c.(1291-1293)CGT>CAT	p.R431H	CRISPLD1_uc011lfk.1_Missense_Mutation_p.R243H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.R243H	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	431	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATTATGCTCGTGTAATTGGA	0.249													A	75937828	G	A	75937828	3	1	235	1	0	0	0	0	1	0	0	0	3882	1145	40	1	1338	1	CRISPLD1	8	75937828	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	200337	75937828	70426194	650	118243											
ZFHX4	79776	broad.mit.edu	37	chr8	77616881	77616881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttctgcacctatgtcGttctacccacagatcatcaa	5	14	5	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77616881G>A	uc003yav.2	+	2	945	c.558G>A	c.(556-558)TCG>TCA	p.S186S	ZFHX4_uc003yat.1_Silent_p.S186S|ZFHX4_uc003yau.1_Silent_p.S186S|ZFHX4_uc003yaw.1_Silent_p.S186S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCTATGTCGTTCTACCCAC	0.483										HNSCC(33;0.089)			A	77616881	G	A	77616881	2	1	235	1	0	0	0	0	0	0	0	1	17632	1132	40	1		1	ZFHX4	8	77616881	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1679053	77616881	68747141	651	118244											
ZFHX4	79776	broad.mit.edu	37	chr8	77618388	77618388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccccaggcttgcccggGgtgagagttacacgtgtggc	14	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77618388G>A	uc003yav.2	+	2	2452	c.2065G>A	c.(2065-2067)GGT>AGT	p.G689S	ZFHX4_uc003yat.1_Missense_Mutation_p.G689S|ZFHX4_uc003yau.1_Missense_Mutation_p.G689S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G689S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	689						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTGCCCGGGGTGAGAGTTA	0.517										HNSCC(33;0.089)			A	77618388	G	A	77618388	3	1	235	1	0	0	0	0	1	0	0	0	17632	1232	43	4	2067	4	ZFHX4	8	77618388	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1507	77618388	68745634	652	118245											
ZFHX4	79776	broad.mit.edu	37	chr8	77763452	77763452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtaacctctgccagcGcagtttccgtacattccagg	9	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77763452G>A	uc003yav.2	+	10	4547	c.4160G>A	c.(4159-4161)CGC>CAC	p.R1387H	ZFHX4_uc003yau.1_Missense_Mutation_p.R1432H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1387H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1387	C2H2-type 11.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCTGCCAGCGCAGTTTCCGT	0.468										HNSCC(33;0.089)			A	77763452	G	A	77763452	3	1	235	1	0	0	0	0	1	0	0	0	17632	1087	38	1	4329	1	ZFHX4	8	77763452	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	145064	77763452	68600570	653	118246											
ZFHX4	79776	broad.mit.edu	37	chr8	77775464	77775464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccacctcctcctcctcctCctccttcatcctctctgtca	1	23	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:77775464C>A	uc003yav.2	+	11	9766	c.9379C>A	c.(9379-9381)CCT>ACT	p.P3127T		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3123	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			tcctcctcctcctccttcatc	0.363										HNSCC(33;0.089)			A	77775464	C	A	77775464	3	1	235	1	0	0	0	0	1	0	0	0	17632	855	30	5	9552	5	ZFHX4	8	77775464	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	12012	77775464	68588558	654	118247											
ZNF704	619279	broad.mit.edu	37	chr8	81577212	81577212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggactgggaaggtgagacCggggccaggctgctcagccc	18	11	1	1	rs141074182		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:81577212C>T	uc003yby.1	-	6	997	c.765G>A	c.(763-765)CCG>CCA	p.P255P		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	255						intracellular	zinc ion binding				0	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)			AAGGTGAGACCGGGGCCAGGC	0.522													T	81577212	C	T	81577212	2	4	235	1	0	0	0	0	0	0	0	1	18104	639	23	1		1	ZNF704	8	81577212	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3801748	81577212	64786810	655	118248											
CA2	760	broad.mit.edu	37	chr8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-													tggactggccgttctaggtaTttttttgaaggttagttgat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					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)	CGTTCTAGGTATTTTTTTGAA	0.388													-	86386635	T	-	86386635	7	5	235	1	0	1	0	1	0	0	0	0	2516	1493	52	0	448	0	CA2	8	86386635	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	4809423	86386635	59977387	656	118249											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885905	88885905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatggtgatgatgccgtActtggagcctccagcttcga	12	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:88885905A>G	uc003ydz.2	-	1	392	c.295T>C	c.(295-297)TAC>CAC	p.Y99H		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	99										ovary(1)	1						ATGATGCCGTACTTGGAGCCT	0.542													G	88885905	A	G	88885905	3	3	235	1	0	0	0	0	1	0	0	0	4272	391	14	3	896	3	DCAF4L2	8	88885905	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2499270	88885905	57478117	657	118250											
CDH17	1015	broad.mit.edu	37	chr8	95188798	95188798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctgccttactgagcctTcgtactttgactggagaaac	9	10	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:95188798T>C	uc003ygh.2	-	5	520	c.395A>G	c.(394-396)GAA>GGA	p.E132G	CDH17_uc011lgo.1_Missense_Mutation_p.E132G|CDH17_uc011lgp.1_Missense_Mutation_p.E132G	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	132	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACTGAGCCTTCGTACTTTGA	0.502													C	95188798	T	C	95188798	3	2	235	1	0	0	0	0	1	0	0	0	3102	1783	62	3	2159	3	CDH17	8	95188798	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	6302893	95188798	51175224	658	118251											
GEM	2669	broad.mit.edu	37	chr8	95272569	95272569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaggaccagcttcggcGgcagtggtcctcaggggtag	17	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:95272569G>A	uc003ygj.2	-	2	412	c.163C>T	c.(163-165)CGC>TGC	p.R55C	GEM_uc003ygi.2_Missense_Mutation_p.R55C	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	55					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			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGCTTCGGCGGCAGTGGTCC	0.602													A	95272569	G	A	95272569	3	1	235	1	0	0	0	0	1	0	0	0	6329	1116	39	1	743	1	GEM	8	95272569	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	83771	95272569	51091453	659	118252											
KIAA1429	25962	broad.mit.edu	37	chr8	95556069	95556069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttacccatatgctctattGtctggcagactgctatgggc	9	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:95556069G>A	uc003ygo.1	-	2	178	c.165C>T	c.(163-165)GAC>GAT	p.D55D	KIAA1429_uc003ygp.2_Silent_p.D55D	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	55					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATGCTCTATTGTCTGGCAGAC	0.353													A	95556069	G	A	95556069	2	1	235	1	0	0	0	0	0	0	0	1	8231	1368	48	4		4	KIAA1429	8	95556069	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	283500	95556069	50807953	660	118253											
PLEKHF2	79666	broad.mit.edu	37	chr8	96166569	96166569	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggagacttaaggaatggAtggctaatcaagacaccaac	12	7	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:96166569A>G	uc003yhn.1	+	2	544	c.297A>G	c.(295-297)GGA>GGG	p.G99G		NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	phafin 2	99	PH.					transport vesicle	metal ion binding|protein binding			ovary(2)	2	Breast(36;3.18e-05)					TAAGGAATGGATGGCTAATCA	0.338													G	96166569	A	G	96166569	2	3	235	1	0	0	0	0	0	0	0	1	12067	320	12	3		3	PLEKHF2	8	96166569	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	610500	96166569	50197453	661	118254											
STK3	6788	broad.mit.edu	37	chr8	99468194	99468194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtccagtgcttttaacCgcatctgtagttcttctaaa	9	9	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:99468194C>T	uc003yip.2	-	11	1493	c.1352G>A	c.(1351-1353)CGG>CAG	p.R451Q	STK3_uc003yio.2_Missense_Mutation_p.R479Q	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	451	SARAH.|Potential.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TGCTTTTAACCGCATCTGTAG	0.388													T	99468194	C	T	99468194	3	4	235	1	0	0	0	0	1	0	0	0	15294	652	23	1	127	1	STK3	8	99468194	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3301625	99468194	46895828	662	118255											
UBR5	51366	broad.mit.edu	37	chr8	103309837	103309837	+	Splice_Site	DEL	A	A	-													cacttgaggatatttcagctAaaaaagtaagaacatagcag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:103309836_103309836TA>T	uc003ykr.2	-	27	3880	c.3425_splice	c.e27-1	p.A1142_splice	UBR5_uc003yks.2_Splice_Site_p.A1142_splice	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1142					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	RNA binding|protein 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)			ATATTTCAGCTAAAAAAGTAA	0.363													-	103309837	A	-	103309837	8	5	235	1	0	1	0	1	0	0	1	0	16902	377	13	0		0	UBR5	8	103309837	Splice_Site	DEL	A	TCGA-F1-6177-01A-11D-1800-08	3841643	103309837	43054185	663	118256											
CTHRC1	115908	broad.mit.edu	37	chr8	104388039	104388039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggggccaatggcattcCgggtacacctgggatcccag	13	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:104388039C>T	uc003ylk.2	+	2	323	c.224C>T	c.(223-225)CCG>CTG	p.P75L	CTHRC1_uc011lhq.1_Missense_Mutation_p.P75L	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	75	Collagen-like.					collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			AATGGCATTCCGGGTACACCT	0.522													T	104388039	C	T	104388039	3	4	235	1	0	0	0	0	1	0	0	0	4010	652	23	1	230	1	CTHRC1	8	104388039	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1078202	104388039	41975983	664	118257											
LRP12	29967	broad.mit.edu	37	chr8	105509439	105509440	+	Frame_Shift_Ins	INS	-	-	T													ctggttggcaaaaaaagcagINStttttttcatctgagccatt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:105509439_105509440insT	uc003yma.2	-	5	1435_1436	c.1340_1341insA	c.(1339-1341)AACfs	p.N447fs	LRP12_uc003ymb.2_Frame_Shift_Ins_p.N428fs|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	447	Extracellular (Potential).|LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAAGCAGTTTTTTTCATC	0.421													T	105509440	-	T	105509439	7	5	235	1	0	1	1	0	0	0	0	0	8954	1020	36	0	1250	0	LRP12	8	105509439	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1121400	105509439	40854583	665	118258	583	2									
LRP12	29967	broad.mit.edu	37	chr8	105509440	105509441	+	Frame_Shift_Ins	INS	-	-	T													tggttggcaaaaaaagcagtINSttttttcatctgagccattt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:105509439_105509440G>GT	uc003yma.3	-	4	1467_1468	c.1340_1341C>AC	c.(1339-1341)aacfs	p.N447fs	LRP12_uc003ymb.3_Frame_Shift_Ins_p.N428fs|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	447	LDL-receptor class A 4.				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)			AAAAAAAGCAGTTTTTTTCATC	0.421													T	105509441	-	T	105509440	7	5	235	1	0	1	1	0	0	0	0	0	8954	1725	60	0	1251	0	LRP12	8	105509440	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	105509440	40854582	666	118259	583	2									
TTC35	9694	broad.mit.edu	37	chr8	109489111	109489111	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaatatgagagctttgtttgGactttatatggtgagttgag	12	2	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:109489111G>C	uc003ymw.1	+	9	727	c.692G>C	c.(691-693)GGA>GCA	p.G231A		NM_014673	NP_055488	Q15006	TTC35_HUMAN	tetratricopeptide repeat domain 35	231						endoplasmic reticulum|nucleus	binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GCTTTGTTTGGACTTTATATG	0.348													C	109489111	G	C	109489111	3	2	235	1	0	0	0	0	1	0	0	0	16700	1174	41	5	726	5	TTC35	8	109489111	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3979671	109489111	36874911	667	118260											
TMEM74	157753	broad.mit.edu	37	chr8	109796626	109796626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgaggaggcagagcccCgcaatcacacagcggtccag	14	13	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:109796626C>T	uc003ymy.1	-	2	807	c.702G>A	c.(700-702)GCG>GCA	p.A234A	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	234	Helical; (Potential).				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GGCAGAGCCCCGCAATCACAC	0.602													T	109796626	C	T	109796626	2	4	235	1	0	0	0	0	0	0	0	1	16199	639	23	1		1	TMEM74	8	109796626	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	307515	109796626	36567396	668	118261											
TRHR	7201	broad.mit.edu	37	chr8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcatggtcttggtggccGcaggcctccccaacataaca	9	14	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:110099973G>A	uc003ymz.3	+	1	248	c.232G>A	c.(232-234)GCA>ACA	p.A78T		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78	Helical; Name=2; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTTGGTGGCCGCAGGCCTCCC	0.512													A	110099973	G	A	110099973	3	1	235	1	0	0	0	0	1	0	0	0	16477	1087	38	1	234	1	TRHR	8	110099973	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	303347	110099973	36264049	669	118262											
PKHD1L1	93035	broad.mit.edu	37	chr8	110441683	110441683	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcgtacacccagtcaaCagccacaggtatttttgaaa	6	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:110441683C>T	uc003yne.2	+	26	3219	c.3115C>T	c.(3115-3117)CAG>TAG	p.Q1039*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1039	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCCAGTCAACAGCCACAGGT	0.353										HNSCC(38;0.096)			T	110441683	C	T	110441683	4	4	235	1	0	0	0	0	0	1	0	0	11972	479	17	4	3217	4	PKHD1L1	8	110441683	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	341710	110441683	35922339	670	118263											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478930	110478930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcagtcagctttcaccGtttagcgttcaaccagcctt	7	13	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:110478930G>A	uc003yne.2	+	50	8641	c.8537G>A	c.(8536-8538)CGT>CAT	p.R2846H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2846	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTTTCACCGTTTAGCGTTC	0.438										HNSCC(38;0.096)			A	110478930	G	A	110478930	3	1	235	1	0	0	0	0	1	0	0	0	11972	1145	40	1	8735	1	PKHD1L1	8	110478930	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	37247	110478930	35885092	671	118264											
CSMD3	114788	broad.mit.edu	37	chr8	113662425	113662426	+	Frame_Shift_Ins	INS	-	-	T													tggatgactccaccagtggtINSttttttcgcatagaaggggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:113662424_113662425G>GT	uc003ynu.3	-	18	3317_3318	c.3158_3159C>AC	c.(3157-3159)aacfs	p.N1053fs	CSMD3_uc003yns.3_Frame_Shift_Ins_p.N325fs|CSMD3_uc003ynt.3_Frame_Shift_Ins_p.N1013fs|CSMD3_uc011lhx.2_Frame_Shift_Ins_p.N949fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1053	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						TCCACCAGTGGTTTTTTTCGCA	0.376										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113662426	-	T	113662425	7	5	235	1	0	1	1	0	0	0	0	0	3946	1725	60	0	8177	0	CSMD3	8	113662425	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	3183495	113662425	32701597	672	118265											
TRPS1	7227	broad.mit.edu	37	chr8	116599370	116599370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccaagccataaataggtCgcgccagatgggcggcctcc	12	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:116599370C>T	uc003ynz.2	-	4	2978	c.2519G>A	c.(2518-2520)CGA>CAA	p.R840Q	TRPS1_uc011lhy.1_Missense_Mutation_p.R844Q|TRPS1_uc003yny.2_Missense_Mutation_p.R853Q|TRPS1_uc010mcy.2_Missense_Mutation_p.R840Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	840					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			ATAAATAGGTCGCGCCAGATG	0.612									Langer-Giedion_syndrome				T	116599370	C	T	116599370	3	4	235	1	0	0	0	0	1	0	0	0	16590	884	31	1	1338	1	TRPS1	8	116599370	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2936945	116599370	29764652	673	118266											
TRPS1	7227	broad.mit.edu	37	chr8	116599476	116599476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcttgcttgggtgtatgAcggactcccccgcaggatgt	14	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:116599476A>G	uc003ynz.2	-	4	2872	c.2413T>C	c.(2413-2415)TCA>CCA	p.S805P	TRPS1_uc011lhy.1_Missense_Mutation_p.S809P|TRPS1_uc003yny.2_Missense_Mutation_p.S818P|TRPS1_uc010mcy.2_Missense_Mutation_p.S805P	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	805	Mediates interaction with GLI3.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TGGGTGTATGACGGACTCCCC	0.567									Langer-Giedion_syndrome				G	116599476	A	G	116599476	3	3	235	1	0	0	0	0	1	0	0	0	16590	275	10	3	1444	3	TRPS1	8	116599476	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	106	116599476	29764546	674	118267											
SLC30A8	169026	broad.mit.edu	37	chr8	118165289	118165289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtggttgtcatcgaaGcctccctctaagcggctgac	10	14	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:118165289G>A	uc003yoh.2	+	3	608	c.378G>A	c.(376-378)AAG>AAA	p.K126K	SLC30A8_uc010mcz.2_Silent_p.K77K|SLC30A8_uc011lia.1_Silent_p.K77K|SLC30A8_uc003yog.2_Silent_p.K77K	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	126	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTCATCGAAGCCTCCCTCTA	0.517													A	118165289	G	A	118165289	2	1	235	1	0	0	0	0	0	0	0	1	14561	962	34	2		2	SLC30A8	8	118165289	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1565813	118165289	28198733	675	118268											
ENPP2	5168	broad.mit.edu	37	chr8	120638944	120638944	+	Frame_Shift_Del	DEL	G	G	-													gatccggagatgttggtccaGggggagtctgatagcactgc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:120638943_120638943AG>A	uc003yos.2	-	2	240	c.154_154CT>T	c.(154-156)tggfs	p.W52fs	ENPP2_uc010mdd.2_Frame_Shift_Del_p.W52fs|ENPP2_uc003yot.2_Frame_Shift_Del_p.W52fs	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	52					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|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	p.W52C(1)		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)			ATGTTGGTCCAGGGGGAGTCT	0.517													-	120638944	G	-	120638944	7	5	235	1	0	1	0	1	0	0	0	0	5130	987	35	0	2769	0	ENPP2	8	120638944	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	2473655	120638944	25725078	676	118269											
COL14A1	7373	broad.mit.edu	37	chr8	121298186	121298186	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggacctgaaattaggaaaAttttttatggaagctttcac	8	5	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:121298186A>T	uc003yox.2	+	33	4319	c.4054A>T	c.(4054-4056)ATT>TTT	p.I1352F	COL14A1_uc003yoz.2_Missense_Mutation_p.I317F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1352	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			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			AATTAGGAAAATTTTTTATGG	0.313													T	121298186	A	T	121298186	3	4	235	1	0	0	0	0	1	0	0	0	3671	101	4	5	4180	5	COL14A1	8	121298186	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	659242	121298186	25065836	677	118270											
WISP1	8840	broad.mit.edu	37	chr8	134232918	134232918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaactgcacgtgcatcgaCggcgcggtgggctgcacacc	13	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:134232918C>T	uc003yub.2	+	3	520	c.444C>T	c.(442-444)GAC>GAT	p.D148D	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	148	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)|kidney(1)	2	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)			CGTGCATCGACGGCGCGGTGG	0.667													T	134232918	C	T	134232918	2	4	235	1	0	0	0	0	0	0	0	1	17369	535	19	1		1	WISP1	8	134232918	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	12934732	134232918	12131104	678	118271											
ZFAT	57623	broad.mit.edu	37	chr8	135622763	135622763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttatgatgggtttcttcGccccagaaagctgtctggcc	10	12	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:135622763G>A	uc003yup.2	-	4	759	c.584C>T	c.(583-585)GCG>GTG	p.A195V	ZFAT_uc003yun.2_Missense_Mutation_p.A183V|ZFAT_uc003yuo.2_Missense_Mutation_p.A183V|ZFAT_uc010meh.2_Missense_Mutation_p.A183V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A183V|ZFAT_uc010mej.2_Intron|ZFAT_uc003yur.2_Missense_Mutation_p.A183V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			GGGTTTCTTCGCCCCAGAAAG	0.488													A	135622763	G	A	135622763	3	1	235	1	0	0	0	0	1	0	0	0	17629	1087	38	1	3199	1	ZFAT	8	135622763	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1389845	135622763	10741259	679	118272											
SLC45A4	57210	broad.mit.edu	37	chr8	142228274	142228274	+	Frame_Shift_Del	DEL	C	C	-													gcgcaccgtggtctcgccctCcccctcctcactctcggtgt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:142228273_142228273TC>T	uc003ywd.1	-	3	1621	c.1313_1313GA>A	c.(1312-1314)gagfs	p.E438fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.E438fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.E436fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	489					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)			GGTCTCGCCCTCCCCCTCCTC	0.672													-	142228274	C	-	142228274	7	5	235	1	0	1	0	1	0	0	0	0	14643	864	30	0	1104	0	SLC45A4	8	142228274	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	6605511	142228274	4135748	680	118273											
SLC45A4	57210	broad.mit.edu	37	chr8	142228560	142228560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtagccgccgagggcGtcttttgtgggggagccact	17	10	1	0	rs12679511		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:142228560G>A	uc003ywd.1	-	4	1334	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	SLC45A4_uc003ywc.1_Silent_p.D342D|SLC45A4_uc010meq.1_Silent_p.D340D	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	393					transport	integral to membrane				ovary(2)	2	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)			CGCCGAGGGCGTCTTTTGTGG	0.632													A	142228560	G	A	142228560	2	1	235	1	0	0	0	0	0	0	0	1	14643	1136	40	1		1	SLC45A4	8	142228560	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	286	142228560	4135462	681	118274											
FLJ43860	389690	broad.mit.edu	37	chr8	142446864	142446864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcgcccaggcggtgcagCgtgtctgacacggtgcccat	15	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:142446864C>T	uc003ywi.2	-	27	3402	c.3321G>A	c.(3319-3321)ACG>ACA	p.T1107T	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1107							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GGCGGTGCAGCGTGTCTGACA	0.652													T	142446864	C	T	142446864	2	4	235	1	0	0	0	0	0	0	0	1	5930	755	27	1		1	FLJ43860	8	142446864	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	218304	142446864	3917158	682	118275											
JRK	8629	broad.mit.edu	37	chr8	143746320	143746320	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcaaacgcaaccgacggCcacagcttcctccaggcccg	10	18	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:143746320C>T	uc003ywo.2	-	2	1672	c.1158G>A	c.(1156-1158)TGG>TGA	p.W386*	JRK_uc003ywp.2_Nonsense_Mutation_p.W386*|JRK_uc010mew.1_Nonsense_Mutation_p.W386*	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				caaccgacggccacagcttcc	0													T	143746320	C	T	143746320	4	4	235	1	0	0	0	0	0	1	0	0	7964	740	26	2	648	2	JRK	8	143746320	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1299456	143746320	2617702	683	118276											
JRK	8629	broad.mit.edu	37	chr8	143747244	143747244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcgtgtgcagcgtgcgCcgctgctccagcgccttgtt	15	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:143747244C>T	uc003ywo.2	-	2	748	c.234G>A	c.(232-234)CGG>CGA	p.R78R	JRK_uc003ywp.2_Silent_p.R78R|JRK_uc010mew.1_Silent_p.R78R	NM_001077527	NP_001070995			jerky isoform b												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				gcagcgtgcgccgctgctcca	0													T	143747244	C	T	143747244	2	4	235	1	0	0	0	0	0	0	0	1	7964	726	26	2		2	JRK	8	143747244	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	924	143747244	2616778	684	118277											
C8orf31	286122	broad.mit.edu	37	chr8	144124626	144124626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggctgccaggaccaccGcattgcagaggtctcccttg	12	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144124626G>A	uc003yxp.1	+	3	485	c.133G>A	c.(133-135)GCA>ACA	p.A45T	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	45										ovary(1)	1	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)					CAGGACCACCGCATTGCAGAG	0.627													A	144124626	G	A	144124626	3	1	235	1	0	0	0	0	1	0	0	0	2420	1087	38	1	139	1	C8orf31	8	144124626	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	377382	144124626	2239396	685	118278											
C8orf73	642475	broad.mit.edu	37	chr8	144652731	144652731	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgggccagcttgtgcaGctgtgtgaccagcgcaagca	15	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144652731G>C	uc010mff.2	-	5	861	c.817C>G	c.(817-819)CTG>GTG	p.L273V	C8orf73_uc010mfg.1_Missense_Mutation_p.L273V	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	273							binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCTTGTGCAGCTGTGTGACC	0.637													C	144652731	G	C	144652731	3	2	235	1	0	0	0	0	1	0	0	0	2435	962	34	5	1382	5	C8orf73	8	144652731	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	528105	144652731	1711291	686	118279											
SCRIB	23513	broad.mit.edu	37	chr8	144893468	144893468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaggtggttccggtccacGttgaggttggtcagcttagt	15	8	1	1	rs145794409		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144893468G>A	uc003yzp.1	-	10	961	c.954C>T	c.(952-954)AAC>AAT	p.N318N	SCRIB_uc003yzo.1_Silent_p.N318N	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	318	LRR 13.|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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCGGTCCACGTTGAGGTTGG	0.667													A	144893468	G	A	144893468	2	1	235	1	0	0	0	0	0	0	0	1	13937	1136	40	1		1	SCRIB	8	144893468	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	240737	144893468	1470554	687	118280											
PLEC	5339	broad.mit.edu	37	chr8	144998018	144998018	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgactcctgctccgctcGctcccgcaggcgccgcgcct	11	22	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:144998018G>A	uc003zaf.1	-	31	6660	c.6490C>T	c.(6490-6492)CGA>TGA	p.R2164*	PLEC_uc003zab.1_Nonsense_Mutation_p.R2027*|PLEC_uc003zac.1_Nonsense_Mutation_p.R2031*|PLEC_uc003zad.2_Nonsense_Mutation_p.R2027*|PLEC_uc003zae.1_Nonsense_Mutation_p.R1995*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2005*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2013*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R2054*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2164	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCTCCGCTCGCTCCCGCAGG	0.716													A	144998018	G	A	144998018	4	1	235	1	0	0	0	0	0	1	0	0	12052	1095	38	1	7572	1	PLEC	8	144998018	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	104550	144998018	1366004	688	118281											
GRINA	2907	broad.mit.edu	37	chr8	145066726	145066726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatcttcatccggaacCgcatcctggagatcgtgtac	9	13	3	1	rs145548367		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145066726C>T	uc003zan.1	+	6	1082	c.916C>T	c.(916-918)CGC>TGC	p.R306C	GRINA_uc003zao.1_Missense_Mutation_p.R306C|GRINA_uc003zap.1_Missense_Mutation_p.R306C	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	306						integral to membrane				central_nervous_system(1)	1	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)			CATCCGGAACCGCATCCTGGA	0.622													T	145066726	C	T	145066726	3	4	235	1	0	0	0	0	1	0	0	0	6785	652	23	1	934	1	GRINA	8	145066726	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	68708	145066726	1297296	689	118282											
OPLAH	26873	broad.mit.edu	37	chr8	145109749	145109749	+	Frame_Shift_Del	DEL	C	C	-													tcaggtctggcaggtggctgCccccggcactgggatggttg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145109748_145109748GC>G	uc003zar.3	-	17	2560	c.2478_2478GC>C	c.(2476-2478)ggcfs	p.G826fs	OPLAH_uc003zas.1_Frame_Shift_Del_p.G75fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	826							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)	GCAGGTGGCTGCCCCCGGCAC	0.657													-	145109749	C	-	145109749	7	5	235	1	0	1	0	1	0	0	0	0	10876	739	26	0	1431	0	OPLAH	8	145109749	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	43023	145109749	1254273	690	118283											
HEATR7A	727957	broad.mit.edu	37	chr8	145234370	145234370	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcagctggcacacccaTaccgagcagcggtcctgagg	12	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145234370T>C	uc003zbk.3	+	5	418	c.181T>C	c.(181-183)TAC>CAC	p.Y61H	HEATR7A_uc003zbg.2_Missense_Mutation_p.Y61H|HEATR7A_uc003zbh.3_Missense_Mutation_p.Y61H|HEATR7A_uc003zbi.3_Missense_Mutation_p.Y61H|HEATR7A_uc011lla.1_Missense_Mutation_p.Y61H|HEATR7A_uc010mft.2_Missense_Mutation_p.Y61H	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	61							binding				0						GGCACACCCATACCGAGCAGC	0.622													C	145234370	T	C	145234370	3	2	235	1	0	0	0	0	1	0	0	0	7034	1406	49	3	191	3	HEATR7A	8	145234370	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	124621	145234370	1129652	691	118284											
KIFC2	90990	broad.mit.edu	37	chr8	145698298	145698298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcccagaccataaaccGctcgctgctggcgctaggag	14	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:145698298G>A	uc003zcz.2	+	17	2047	c.1982G>A	c.(1981-1983)CGC>CAC	p.R661H	KIFC2_uc003zda.2_Missense_Mutation_p.R49H	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	661	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)			ACCATAAACCGCTCGCTGCTG	0.652													A	145698298	G	A	145698298	3	1	235	1	0	0	0	0	1	0	0	0	8313	1087	38	1	2048	1	KIFC2	8	145698298	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	463928	145698298	665724	692	118285											
ZNF7	7553	broad.mit.edu	37	chr8	146067178	146067179	+	Frame_Shift_Ins	INS	-	-	A													agcagatgtcaagaatgccaINSaaaaaagttatctgactgct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:146067177_146067178C>CA	uc010mge.3	+	4	855_856	c.718_719C>CA	c.(718-720)caafs	p.Q240fs	ZNF7_uc003zeg.4_Frame_Shift_Ins_p.Q229fs|ZNF7_uc011lln.2_Frame_Shift_Ins_p.Q133fs|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Frame_Shift_Ins_p.Q133fs|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	229					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	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)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	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)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCAAGAATGCCAAAAAAAGTTA	0.455													A	146067179	-	A	146067178	7	5	235	1	0	1	1	0	0	0	0	0	18099	130	5	0	700	0	ZNF7	8	146067178	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	368880	146067178	296844	693	118286											
COMMD5	28991	broad.mit.edu	37	chr8	146076123	146076123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagggccacgctgtaccGcagctcctggaacttggctg	13	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr8:146076123G>A	uc003zem.2	-	2	732	c.601C>T	c.(601-603)CGG>TGG	p.R201W	COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.R201W|COMMD5_uc003zeo.3_Missense_Mutation_p.R201W|COMMD5_uc010mgf.2_Missense_Mutation_p.R201W	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	201	COMM.					nucleus	protein binding			ovary(1)	1	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)			ACGCTGTACCGCAGCTCCTGG	0.597													A	146076123	G	A	146076123	3	1	235	1	0	0	0	0	1	0	0	0	3719	1086	38	1	77	1	COMMD5	8	146076123	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	8945	146076123	287899	694	118287											
VLDLR	7436	broad.mit.edu	37	chr9	2635519	2635519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtattacgctgttgtGgaaatgtgatggggatgaag	15	4	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:2635519G>T	uc003zhk.1	+	2	546	c.149G>T	c.(148-150)TGG>TTG	p.W50L	VLDLR_uc003zhl.1_Missense_Mutation_p.W50L|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.W50L	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	50	Extracellular (Potential).|LDL-receptor class A 1.				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ACGCTGTTGTGGAAATGTGAT	0.408													T	2635519	G	T	2635519	3	4	235	1	0	0	0	0	1	0	0	0	17171	1357	47	5	155	5	VLDLR	9	2635519	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08		2635519	138577912	695	118288											
VLDLR	7436	broad.mit.edu	37	chr9	2646515	2646515	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtttaactctgacttgCgagagcctgcctccatagct	8	13	1	2	rs141396971		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:2646515C>T	uc003zhk.1	+	11	2063	c.1666C>T	c.(1666-1668)CGA>TGA	p.R556*	VLDLR_uc003zhl.1_Nonsense_Mutation_p.R556*|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Nonsense_Mutation_p.R515*	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	556	LDL-receptor class B 3.|Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTCTGACTTGCGAGAGCCTGC	0.478													T	2646515	C	T	2646515	4	4	235	1	0	0	0	0	0	1	0	0	17171	760	27	1	1708	1	VLDLR	9	2646515	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	10996	2646515	138566916	696	118289											
TYRP1	7306	broad.mit.edu	37	chr9	12708067	12708068	+	Frame_Shift_Ins	INS	-	-	C													acaacatggtgccattctggINScccccagtcaccaacacaga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:12708067_12708068insC	uc003zkv.3	+	7	1510_1511	c.1332_1333insC	c.(1330-1335)TGGCCCfs	p.W444fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	444_445	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TGCCATTCTGGCCCCCAGTCAC	0.376									Oculocutaneous_Albinism				C	12708068	-	C	12708067	7	5	235	1	0	1	1	0	0	0	0	0	16813	1212	42	0	1354	0	TYRP1	9	12708067	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	10061552	12708067	128505364	697	118290	584	2									
TYRP1	7306	broad.mit.edu	37	chr9	12708068	12708069	+	Frame_Shift_Ins	INS	-	-	C													caacatggtgccattctggcINSccccagtcaccaacacagaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:12708067_12708068G>GC	uc003zkv.4	+	6	1510_1511	c.1332_1333G>GC	c.(1330-1335)tggcccfs	p.W444fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	444					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TGCCATTCTGGCCCCCAGTCAC	0.376									Oculocutaneous Albinism				C	12708069	-	C	12708068	7	5	235	1	0	1	1	0	0	0	0	0	16813	739	26	0	1355	0	TYRP1	9	12708068	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	12708068	128505363	698	118291	584	2									
MPDZ	8777	broad.mit.edu	37	chr9	13112118	13112118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctactcctccagcaaTgctgattcccagtgagtcag	9	14	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:13112118T>C	uc010mhy.2	-	41	5593	c.5542A>G	c.(5542-5544)ATC>GTC	p.I1848V	MPDZ_uc003zkx.3_Intron|MPDZ_uc003zky.3_Missense_Mutation_p.I411V|MPDZ_uc010mib.2_Missense_Mutation_p.I582V|MPDZ_uc010mhx.2_Missense_Mutation_p.I699V|MPDZ_uc011lmm.1_Missense_Mutation_p.I736V|MPDZ_uc003zkz.3_Missense_Mutation_p.I570V|MPDZ_uc010mhz.2_Missense_Mutation_p.I1844V|MPDZ_uc011lmn.1_Missense_Mutation_p.I1815V|MPDZ_uc003zlb.3_Missense_Mutation_p.I1848V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1877	PDZ 12.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTCCAGCAATGCTGATTCCC	0.438													C	13112118	T	C	13112118	3	2	235	1	0	0	0	0	1	0	0	0	9722	1464	51	3	603	3	MPDZ	9	13112118	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	404050	13112118	128101313	699	118292											
MPDZ	8777	broad.mit.edu	37	chr9	13125277	13125277	+	Frame_Shift_Del	DEL	T	T	-													tcagagactgggagctgttcTttttttctccactggctgca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:13125277delT	uc010mia.1	-	34	4802	c.4745delA	c.(4744-4746)AAGfs	p.K1582fs	MPDZ_uc003zky.3_Frame_Shift_Del_p.K144fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.K287fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.K404fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.K441fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.K275fs|MPDZ_uc010mhy.2_Frame_Shift_Del_p.K1582fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.K1549fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.K1549fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.K1582fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1582					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GGAGCTGTTCTTTTTTTCTCC	0.517													-	13125277	T	-	13125277	7	5	235	1	0	1	0	1	0	0	0	0	9722	1609	56	0	1428	0	MPDZ	9	13125277	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	13159	13125277	128088154	700	118293											
NFIB	4781	broad.mit.edu	37	chr9	14125655	14125655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcaactccaggtattcCgggatggtggtgctggggga	18	7	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14125655C>T	uc003zle.2	-	7	1471	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R	NFIB_uc003zld.2_Missense_Mutation_p.G94R|NFIB_uc003zlf.2_Missense_Mutation_p.G346R|NFIB_uc011lmo.1_Missense_Mutation_p.G346R	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	346					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				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCAGGTATTCCGGGATGGTGG	0.522			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								T	14125655	C	T	14125655	3	4	235	1	0	0	0	0	1	0	0	0	10371	661	23	1	238	1	NFIB	9	14125655	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1000378	14125655	127087776	701	118294											
ZDHHC21	340481	broad.mit.edu	37	chr9	14662273	14662273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctacagtgatgggaaCgctttggtctcatcaaatta	11	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14662273C>T	uc003zli.2	-	6	775	c.305G>A	c.(304-306)CGT>CAT	p.R102H	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	102	DHHC-type.				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)		GTGATGGGAACGCTTTGGTCT	0.418													T	14662273	C	T	14662273	3	4	235	1	0	0	0	0	1	0	0	0	17609	536	19	1	504	1	ZDHHC21	9	14662273	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	536618	14662273	126551158	702	118295											
FREM1	158326	broad.mit.edu	37	chr9	14776179	14776179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaccccgtgctcggtccGcagtccattgctgatgatga	10	13	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14776179G>A	uc003zlm.2	-	25	5055	c.4465C>T	c.(4465-4467)CGG>TGG	p.R1489W	FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.R25W	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1489	CSPG 11.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTCGGTCCGCAGTCCATTG	0.522													A	14776179	G	A	14776179	3	1	235	1	0	0	0	0	1	0	0	0	6044	1086	38	1	2126	1	FREM1	9	14776179	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	113906	14776179	126437252	703	118296											
FREM1	158326	broad.mit.edu	37	chr9	14842482	14842482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcacaacattggttatgaGgaacgggggactatcatctt	10	7	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:14842482G>T	uc003zlm.2	-	9	2160	c.1570C>A	c.(1570-1572)CTC>ATC	p.L524I	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	524	CSPG 3.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TTGGTTATGAGGAACGGGGGA	0.507													T	14842482	G	T	14842482	3	4	235	1	0	0	0	0	1	0	0	0	6044	1000	35	5	5135	5	FREM1	9	14842482	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	66303	14842482	126370949	704	118297											
CNTLN	54875	broad.mit.edu	37	chr9	17235698	17235698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataaatgaccttgtaaaaCggaaaattgcagtagatgaa	8	4	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:17235698C>T	uc003zmz.2	+	4	603	c.577C>T	c.(577-579)CGG>TGG	p.R193W	CNTLN_uc003zmx.3_Missense_Mutation_p.R193W|CNTLN_uc003zmy.2_Missense_Mutation_p.R193W|CNTLN_uc010mio.2_5'Flank	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	193						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CCTTGTAAAACGGAAAATTGC	0.299													T	17235698	C	T	17235698	3	4	235	1	0	0	0	0	1	0	0	0	3639	527	19	1	591	1	CNTLN	9	17235698	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2393216	17235698	123977733	705	118298											
LINGO2	158038	broad.mit.edu	37	chr9	27949660	27949660	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggagaagacattctctTccaaagtttccagcaggttc	11	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:27949660T>C	uc003zqu.1	-	2	1204	c.1010A>G	c.(1009-1011)GAA>GGA	p.E337G	LINGO2_uc010mjf.1_Missense_Mutation_p.E337G|LINGO2_uc003zqv.1_Missense_Mutation_p.E337G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	337	Extracellular (Potential).|LRR 12.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		GACATTCTCTTCCAAAGTTTC	0.557													C	27949660	T	C	27949660	3	2	235	1	0	0	0	0	1	0	0	0	8815	1783	62	3	814	3	LINGO2	9	27949660	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	10713962	27949660	113263771	706	118299											
TAF1L	138474	broad.mit.edu	37	chr9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-													tctgaatgggaaggaaaggcTttttttatatcttccattcg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:32633024_32633024CT>C	uc003zrg.1	-	0	2644	c.2554_2554AG>G	c.(2554-2556)gccfs	p.A852fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	852					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|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A852fs*14(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)		GAAGGAAAGGCTTTTTTTATA	0.443													-	32633025	T	-	32633025	7	5	235	1	0	1	0	1	0	0	0	0	15520	1606	56	0	2931	0	TAF1L	9	32633025	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	4683365	32633025	108580406	707	118300											
DNAJA1	3301	broad.mit.edu	37	chr9	33029981	33029981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtgatttgtgacaaaTgtgaaggtacggtgtttttt	12	2	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:33029981T>C	uc003zsd.1	+	4	592	c.409T>C	c.(409-411)TGT>CGT	p.C137R	DNAJA1_uc011lnt.1_5'UTR|DNAJA1_uc003zse.1_Missense_Mutation_p.C137R	NM_001539	NP_001530	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	137	CR-type.|CXXCXGXG motif.	Zinc 1 (By similarity).			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				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTGTGACAAATGTGAAGGTAC	0.313													C	33029981	T	C	33029981	3	2	235	1	0	0	0	0	1	0	0	0	4611	1464	51	3	419	3	DNAJA1	9	33029981	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	396956	33029981	108183450	708	118301											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										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)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	235	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	2013669	35043650	106169781	709	118302											
UNC13B	10497	broad.mit.edu	37	chr9	35386181	35386181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtacaagaactgcaaagccCtccaagagccagccaggtgg	12	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35386181C>A	uc003zwq.2	+	23	3030	c.2738C>A	c.(2737-2739)CCT>CAT	p.P913H	UNC13B_uc003zwr.2_Missense_Mutation_p.P913H	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	913					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCAAAGCCCTCCAAGAGCC	0.483													A	35386181	C	A	35386181	3	1	235	1	0	0	0	0	1	0	0	0	16982	681	24	5	2828	5	UNC13B	9	35386181	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	342531	35386181	105827250	710	118303											
RUSC2	9853	broad.mit.edu	37	chr9	35547647	35547647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagccgtgcccagcagtgGctgacctcacagcctgcttc	12	15	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35547647G>A	uc003zww.2	+	2	1384	c.1129G>A	c.(1129-1131)GCT>ACT	p.A377T	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A377T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	377						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGCAGTGGCTGACCTCAC	0.552													A	35547647	G	A	35547647	3	1	235	1	0	0	0	0	1	0	0	0	13751	1203	42	2	1131	2	RUSC2	9	35547647	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	161466	35547647	105665784	711	118304											
TESK1	7016	broad.mit.edu	37	chr9	35607366	35607366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaggcttcaccgctgtcGtgggtgacttcgggctggcc	15	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35607366G>A	uc003zxa.2	+	5	916	c.580G>A	c.(580-582)GTG>ATG	p.V194M	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Intron	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	194	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCGCTGTCGTGGGTGACTT	0.552													A	35607366	G	A	35607366	3	1	235	1	0	0	0	0	1	0	0	0	15764	1145	40	1	598	1	TESK1	9	35607366	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	59719	35607366	105606065	712	118305											
NPR2	4882	broad.mit.edu	37	chr9	35792488	35792488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcggaacctgacgctggCggtggtgctgccagaacaca	16	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35792488C>T	uc003zyd.2	+	1	83	c.83C>T	c.(82-84)GCG>GTG	p.A28V	NPR2_uc010mlb.2_Missense_Mutation_p.A28V	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	28	Extracellular (Potential).				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			ovary(2)|stomach(1)	3	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)	CTGACGCTGGCGGTGGTGCTG	0.687													T	35792488	C	T	35792488	3	4	235	1	0	0	0	0	1	0	0	0	10595	768	27	1	85	1	NPR2	9	35792488	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	185122	35792488	105420943	713	118306											
TMEM8B	51754	broad.mit.edu	37	chr9	35846378	35846378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcggggtggggcctcGgtgagcggtgcggggcgggg	25	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:35846378G>A	uc003zym.2	+	9	1512	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	TMEM8B_uc003zyk.2_Missense_Mutation_p.R166Q|TMEM8B_uc003zyl.2_Missense_Mutation_p.R333Q|TMEM8B_uc003zyn.2_Silent_p.S61S|TMEM8B_uc003zyo.2_Missense_Mutation_p.R166Q	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	166	Extracellular (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						GTGGGGCCTCGGTGAGCGGTG	0.726													A	35846378	G	A	35846378	3	1	235	1	0	0	0	0	1	0	0	0	16212	1130	39	1	507	1	TMEM8B	9	35846378	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	53890	35846378	105367053	714	118307											
ZCCHC7	84186	broad.mit.edu	37	chr9	37354736	37354736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagaagtgtatgacccGtctccagtatctccattcat	8	10	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:37354736G>A	uc003zzq.2	+	8	1286	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P	ZCCHC7_uc011lqh.1_Silent_p.P81P|ZCCHC7_uc011lqi.1_Silent_p.P370P|ZCCHC7_uc010mlt.2_Silent_p.P370P	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	371							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TGTATGACCCGTCTCCAGTAT	0.343													A	37354736	G	A	37354736	2	1	235	1	0	0	0	0	0	0	0	1	17590	1132	40	1		1	ZCCHC7	9	37354736	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1508358	37354736	103858695	715	118308											
ZBTB5	9925	broad.mit.edu	37	chr9	37442433	37442433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgctgccagcacggagCggtgggctttaaagtgtcta	14	9	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:37442433C>T	uc003zzx.2	-	2	316	c.116G>A	c.(115-117)CGC>CAC	p.R39H		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	39	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CAGCACGGAGCGGTGGGCTTT	0.517													T	37442433	C	T	37442433	3	4	235	1	0	0	0	0	1	0	0	0	17548	768	27	1	1921	1	ZBTB5	9	37442433	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	87697	37442433	103770998	716	118309											
TMEM2	23670	broad.mit.edu	37	chr9	74319518	74319518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaacatacttgttgaAgttgacgaggtatagaaatg	10	4	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:74319518A>G	uc011lsa.1	-	18	3727	c.3187T>C	c.(3187-3189)TTC>CTC	p.F1063L	TMEM2_uc011lrz.1_Missense_Mutation_p.F56L|TMEM2_uc010mos.2_Missense_Mutation_p.F1000L|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1063						integral to membrane				ovary(2)	2		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)		TACTTGTTGAAGTTGACGAGG	0.423													G	74319518	A	G	74319518	3	3	235	1	0	0	0	0	1	0	0	0	16118	72	3	3	992	3	TMEM2	9	74319518	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	36877085	74319518	66893913	717	118310											
AGTPBP1	23287	broad.mit.edu	37	chr9	88248183	88248183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaacttttcttaaattgCcagaattcccagatgtttcc	4	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:88248183C>T	uc011ltd.1	-	13	1442	c.1409G>A	c.(1408-1410)GGC>GAC	p.G470D	AGTPBP1_uc004aod.3_Missense_Mutation_p.G96D|AGTPBP1_uc011ltc.1_Missense_Mutation_p.G368D|AGTPBP1_uc010mqc.2_Missense_Mutation_p.G430D|AGTPBP1_uc011lte.1_Missense_Mutation_p.G482D	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	470					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			ovary(4)|large_intestine(2)|skin(1)	7						TCTTAAATTGCCAGAATTCCC	0.368													T	88248183	C	T	88248183	3	4	235	1	0	0	0	0	1	0	0	0	400	739	26	2	2323	2	AGTPBP1	9	88248183	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	13928665	88248183	52965248	718	118311											
NOL8	55035	broad.mit.edu	37	chr9	95076713	95076713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatcagttttgatttcccGagtgtccttggatgagacct	10	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:95076713G>A	uc004arv.2	-	7	2531	c.2194C>T	c.(2194-2196)CGG>TGG	p.R732W	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.R664W	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	732					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TTGATTTCCCGAGTGTCCTTG	0.438													A	95076713	G	A	95076713	3	1	235	1	0	0	0	0	1	0	0	0	10527	1057	37	1	1353	1	NOL8	9	95076713	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6828530	95076713	46136718	719	118312											
NINJ1	4814	broad.mit.edu	37	chr9	95887239	95887239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctggaccccgaaggccGtgatgaagatgttgactacc	12	11	1	4	rs138077782		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:95887239G>A	uc004atg.3	-	3	481	c.410C>T	c.(409-411)ACG>ATG	p.T137M	NINJ1_uc004ath.3_Missense_Mutation_p.T87M	NM_004148	NP_004139	Q92982	NINJ1_HUMAN	ninjurin 1	137	Helical; (Potential).				cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)	1						CCCGAAGGCCGTGATGAAGAT	0.602													A	95887239	G	A	95887239	3	1	235	1	0	0	0	0	1	0	0	0	10418	1145	40	1	52	1	NINJ1	9	95887239	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	810526	95887239	45326192	720	118313											
WNK2	65268	broad.mit.edu	37	chr9	96009888	96009888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtccatccgtgaccgcGtggccttgatccagtggcgg	13	14	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96009888G>A	uc004ati.1	+	7	1606	c.1606G>A	c.(1606-1608)GTG>ATG	p.V536M	WNK2_uc011lud.1_Missense_Mutation_p.V536M|WNK2_uc004atj.2_Missense_Mutation_p.V536M|WNK2_uc004atk.2_Missense_Mutation_p.V173M|WNK2_uc010mrc.1_Missense_Mutation_p.V536M|WNK2_uc010mrd.1_Missense_Mutation_p.V173M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	536					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCGTGACCGCGTGGCCTTGAT	0.622													A	96009888	G	A	96009888	3	1	235	1	0	0	0	0	1	0	0	0	17375	1145	40	1	1632	1	WNK2	9	96009888	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	122649	96009888	45203543	721	118314											
WNK2	65268	broad.mit.edu	37	chr9	96024184	96024184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctgcggtcctctcgcCgcctctgccggaagtgctgc	13	17	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96024184C>T	uc004ati.1	+	12	3155	c.3155C>T	c.(3154-3156)CCG>CTG	p.P1052L	WNK2_uc011lud.1_Missense_Mutation_p.P1052L|WNK2_uc004atj.2_Missense_Mutation_p.P1052L|WNK2_uc004atk.2_Missense_Mutation_p.P689L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1052					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GTCCTCTCGCCGCCTCTGCCG	0.692													T	96024184	C	T	96024184	3	4	235	1	0	0	0	0	1	0	0	0	17375	652	23	1	3201	1	WNK2	9	96024184	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	14296	96024184	45189247	722	118315											
PHF2	5253	broad.mit.edu	37	chr9	96437282	96437282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaaggctcagaCgacgctccctacagcccaac	9	13	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96437282C>T	uc004aub.2	+	19	2847	c.2700C>T	c.(2698-2700)GAC>GAT	p.D900D	PHF2_uc011lug.1_Silent_p.D783D|PHF2_uc004auc.2_Silent_p.D320D	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	900					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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGGCTCAGACGACGCTCCCT	0.577													T	96437282	C	T	96437282	2	4	235	1	0	0	0	0	0	0	0	1	11830	535	19	1		1	PHF2	9	96437282	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	413098	96437282	44776149	723	118316											
PTPDC1	138639	broad.mit.edu	37	chr9	96864016	96864017	+	Frame_Shift_Ins	INS	-	-	T													agcagatgccgcagaagcacINStttttttattagagaaggta							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96864016_96864017insT	uc004auf.1	+	8	2360_2361	c.2020_2021insT	c.(2020-2022)CTTfs	p.L674fs	PTPDC1_uc004aug.1_Frame_Shift_Ins_p.L669fs|PTPDC1_uc004auh.1_Frame_Shift_Ins_p.L726fs|PTPDC1_uc010mrj.1_Frame_Shift_Ins_p.L728fs	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	674							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						CGCAGAAGCACTTTTTTTATTA	0.426													T	96864017	-	T	96864016	7	5	235	1	0	1	1	0	0	0	0	0	12773	565	20	0	2288	0	PTPDC1	9	96864016	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	426734	96864016	44349415	724	118317	585	2									
PTPDC1	138639	broad.mit.edu	37	chr9	96864017	96864018	+	Frame_Shift_Ins	INS	-	-	T													gcagatgccgcagaagcactINSttttttattagagaaggtaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:96864016_96864017C>CT	uc010mrj.2	+	6	2284_2285	c.2182_2183C>CT	c.(2182-2184)cttfs	p.L728fs	PTPDC1_uc004auf.2_Frame_Shift_Ins_p.L674fs|PTPDC1_uc004aug.2_Frame_Shift_Ins_p.L669fs|PTPDC1_uc004auh.2_Frame_Shift_Ins_p.L726fs	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	674							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						CGCAGAAGCACTTTTTTTATTA	0.426													T	96864018	-	T	96864017	7	5	235	1	0	1	1	0	0	0	0	0	12773	1609	56	0	2289	0	PTPDC1	9	96864017	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	96864017	44349414	725	118318	585	2									
HIATL1	84641	broad.mit.edu	37	chr9	97203361	97203361	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcactcaggagcacgagCgaagtacagcttatggatgg	13	8	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:97203361C>T	uc004aur.2	+	5	759	c.490C>T	c.(490-492)CGA>TGA	p.R164*	HIATL1_uc011luh.1_Nonsense_Mutation_p.R99*	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	164	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GGAGCACGAGCGAAGTACAGC	0.348													T	97203361	C	T	97203361	4	4	235	1	0	0	0	0	0	1	0	0	7098	760	27	1	508	1	HIATL1	9	97203361	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	339344	97203361	44010070	726	118319											
PTCH1	5727	broad.mit.edu	37	chr9	98241348	98241348	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgttccagttgatgtgTgagacatactcgtacccctt	8	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:98241348T>C	uc004avk.3	-	8	1337	c.1149A>G	c.(1147-1149)TCA>TCG	p.S383S	PTCH1_uc010mro.2_Silent_p.S232S|PTCH1_uc010mrp.2_Silent_p.S232S|PTCH1_uc010mrq.2_Silent_p.S232S|PTCH1_uc004avl.3_Silent_p.S232S|PTCH1_uc010mrr.2_Silent_p.S317S|PTCH1_uc004avm.3_Silent_p.S382S|PTCH1_uc010mrs.1_Silent_p.S103S	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	383	Extracellular (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGTTGATGTGTGAGACATACT	0.557									Basal_Cell_Nevus_syndrome				C	98241348	T	C	98241348	2	2	235	1	0	0	0	0	0	0	0	1	12730	1683	59	3		3	PTCH1	9	98241348	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1037987	98241348	42972083	727	118320											
HSD17B3	3293	broad.mit.edu	37	chr9	99064279	99064279	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagactttggcaaaactttCcagtagttcagtaaaacaca	6	8	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:99064279C>T	uc004awa.1	-	1	156	c.108G>A	c.(106-108)TGG>TGA	p.W36*	HSD17B3_uc010msc.1_Nonsense_Mutation_p.W36*	NM_000197	NP_000188	P37058	DHB3_HUMAN	estradiol 17 beta-dehydrogenase 3	36					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity				0		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GCAAAACTTTCCAGTAGTTCA	0.498													T	99064279	C	T	99064279	4	4	235	1	0	0	0	0	0	1	0	0	7385	856	30	4	868	4	HSD17B3	9	99064279	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	822931	99064279	42149152	728	118321											
ZNF510	22869	broad.mit.edu	37	chr9	99521474	99521474	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggatttttcacattcattAcactggtaagttttctcccc	5	10	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:99521474A>G	uc004awn.1	-	6	1827	c.1638T>C	c.(1636-1638)TGT>TGC	p.C546C	ZNF510_uc004awo.1_Silent_p.C546C	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	546	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				CACATTCATTACACTGGTAAG	0.383													G	99521474	A	G	99521474	2	3	235	1	0	0	0	0	0	0	0	1	17951	389	14	3		3	ZNF510	9	99521474	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	457195	99521474	41691957	729	118322											
ANKS6	203286	broad.mit.edu	37	chr9	101552652	101552652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcgtgcccgtgctggAtggcagccatcagggctgtg	16	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:101552652A>G	uc004ayu.2	-	2	617	c.596T>C	c.(595-597)ATC>ACC	p.I199T	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	199	ANK 5.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				CCCGTGCTGGATGGCAGCCAT	0.682													G	101552652	A	G	101552652	3	3	235	1	0	0	0	0	1	0	0	0	692	333	12	3	2075	3	ANKS6	9	101552652	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2031178	101552652	39660779	730	118323											
C9orf84	158401	broad.mit.edu	37	chr9	114449052	114449052	+	Frame_Shift_Del	DEL	A	A	-													cattgctcttctcctccttcAaaaaaacctcagccgagtct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:114449051_114449051CA>C	uc004bfr.3	-	25	4469	c.4334_4334TG>G	c.(4333-4335)tgafs	p.*1445fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Del_p.*1406fs|C9orf84_uc010mug.3_Frame_Shift_Del_p.*1356fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	0										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						TCTCCTCCTTCAAAAAAACCT	0.393													-	114449052	A	-	114449052	7	5	235	1	0	1	0	1	0	0	0	0	2500	143	5	0	5	0	C9orf84	9	114449052	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	12896400	114449052	26764379	731	118324											
POLE3	54107	broad.mit.edu	37	chr9	116171195	116171195	+	Frame_Shift_Del	DEL	T	T	-													gtcttgctcttccgagtctgTttttttgtctttgtccttct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:116171195delT	uc011lxg.1	-	4	722	c.340delA	c.(340-342)ACAfs	p.T114fs	POLE3_uc004bhn.2_Frame_Shift_Del_p.T114fs|C9orf43_uc004bho.3_5'Flank|C9orf43_uc004bhp.2_5'Flank	NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	DNA-directed DNA polymerase epsilon 3	114	Potential.				DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding				0						tccgagtctgtttttttgtct	0.199													-	116171195	T	-	116171195	7	5	235	1	0	1	0	1	0	0	0	0	12198	1725	60	0	107	0	POLE3	9	116171195	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	1722143	116171195	25042236	732	118325											
TNC	3371	broad.mit.edu	37	chr9	117849113	117849113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaaccctcatcacacacGcactcattctccacgcatcg	5	17	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:117849113G>A	uc004bjj.3	-	3	1259	c.897C>T	c.(895-897)TGC>TGT	p.C299C	TNC_uc010mvf.2_Silent_p.C299C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	299	EGF-like 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CATCACACACGCACTCATTCT	0.567													A	117849113	G	A	117849113	2	1	235	1	0	0	0	0	0	0	0	1	16267	1079	38	1		1	TNC	9	117849113	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1677918	117849113	23364318	733	118326											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123298694	123298694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgccaagtccccctcGtgcatcttcttcatctctga	6	17	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:123298694G>A	uc004bkf.2	-	7	799	c.618C>T	c.(616-618)CAC>CAT	p.H206H	CDK5RAP2_uc004bkg.2_Silent_p.H206H|CDK5RAP2_uc011lxw.1_Translation_Start_Site|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Translation_Start_Site|CDK5RAP2_uc011lya.1_Translation_Start_Site|CDK5RAP2_uc004bkh.1_Silent_p.H206H|CDK5RAP2_uc004bki.2_Silent_p.H5H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	206					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AGTCCCCCTCGTGCATCTTCT	0.547													A	123298694	G	A	123298694	2	1	235	1	0	0	0	0	0	0	0	1	3146	1136	40	1		1	CDK5RAP2	9	123298694	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5449581	123298694	17914737	734	118327											
PSMD5	5711	broad.mit.edu	37	chr9	123593733	123593733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattcttgacagggatttgAtagccttataacgaaagaaa	8	5	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:123593733A>G	uc004bko.2	-	4	456	c.437T>C	c.(436-438)ATC>ACC	p.I146T	PSMD5_uc011lye.1_Intron	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	proteasome 26S non-ATPase subunit 5	146					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|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding				0						CAGGGATTTGATAGCCTTATA	0.353													G	123593733	A	G	123593733	3	3	235	1	0	0	0	0	1	0	0	0	12701	333	12	3	1105	3	PSMD5	9	123593733	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	295039	123593733	17619698	735	118328											
DAB2IP	153090	broad.mit.edu	37	chr9	124536637	124536638	+	Frame_Shift_Ins	INS	-	-	C													acgagggcctgggcccagacINScccccccacagggataggct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:124536636_124536637A>AC	uc004bln.3	+	12	3050_3051	c.2981_2982A>AC	c.(2980-2982)gacfs	p.D994fs	DAB2IP_uc004blo.3_Frame_Shift_Ins_p.D898fs|DAB2IP_uc004blp.3_Frame_Shift_Ins_p.D427fs	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1022					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 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 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 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|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|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						CTGGGCCCAGACCCCCCCCACA	0.634													C	124536638	-	C	124536637	7	5	235	1	0	1	1	0	0	0	0	0	4219	506	18	0	3032	0	DAB2IP	9	124536637	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	942904	124536637	16676794	736	118329											
LHX6	26468	broad.mit.edu	37	chr9	124971944	124971944	+	Frame_Shift_Del	DEL	G	G	-													atatcggctttgaggtggacGgggggtgcggtgtaaggcag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:124971943_124971943CG>C	uc004blx.4	-	8	1180	c.1108_1108CG>G	c.(1108-1110)gtcfs	p.V370fs	LHX6_uc022bmw.1_Frame_Shift_Del_p.V154fs|LHX6_uc010mvw.3_Frame_Shift_Del_p.V341fs|LHX6_uc022bmx.1_Intron|LHX6_uc004bly.4_Intron	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	341					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						ttgaggtggacggggggtgcg	0.637													-	124971944	G	-	124971944	7	5	235	1	0	1	0	1	0	0	0	0	8775	1103	39	0	138	0	LHX6	9	124971944	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	435307	124971944	16241487	737	118330											
OR1B1	347169	broad.mit.edu	37	chr9	125391779	125391779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccaaggagcaaaaaaacCggagagtgtgaagcattagg	12	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125391779C>T	uc011lyz.1	-	1	36	c.36G>A	c.(34-36)CCG>CCA	p.P12P		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCAAAAAAACCGGAGAGTGTG	0.463													T	125391779	C	T	125391779	2	4	235	1	0	0	0	0	0	0	0	1	10951	639	23	1		1	OR1B1	9	125391779	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	419835	125391779	15821652	738	118331											
OR5C1	392391	broad.mit.edu	37	chr9	125551337	125551337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgtctacctggtgagCctgctgggaaacatgggcat	13	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125551337C>T	uc011lzd.1	+	1	126	c.126C>T	c.(124-126)AGC>AGT	p.S42S		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ACCTGGTGAGCCTGCTGGGAA	0.617													T	125551337	C	T	125551337	2	4	235	1	0	0	0	0	0	0	0	1	11153	738	26	2		2	OR5C1	9	125551337	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	159558	125551337	15662094	739	118332											
RC3H2	54542	broad.mit.edu	37	chr9	125617540	125617540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtatggtaacctgtaCgggaagatctggaaatcgca	13	7	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125617540C>T	uc010mwc.1	-	15	2979	c.2738G>A	c.(2737-2739)CGT>CAT	p.R913H	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.R913H|RC3H2_uc004bne.3_Missense_Mutation_p.R913H	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	913						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GTAACCTGTACGGGAAGATCT	0.438													T	125617540	C	T	125617540	3	4	235	1	0	0	0	0	1	0	0	0	13167	536	19	1	943	1	RC3H2	9	125617540	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	66203	125617540	15595891	740	118333											
STRBP	55342	broad.mit.edu	37	chr9	125946468	125946468	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcccctctttcttgtcGtcttcactagacactgtttt	4	14	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:125946468G>A	uc004bns.2	-	3	376	c.-54C>T	c.(-56--52)GACGA>GATGA		STRBP_uc004bnt.2_Translation_Start_Site|STRBP_uc004bnu.2_Translation_Start_Site|STRBP_uc004bnv.2_Translation_Start_Site	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|skin(1)	2						CTTTCTTGTCGTCTTCACTAG	0.383													A	125946468	G	A	125946468	1	1	235	1	0	0	0	0	0	0	0	0	15326	1160	40	1		1	STRBP	9	125946468	Translation_Start_Site	SNP	G	TCGA-F1-6177-01A-11D-1800-08	328928	125946468	15266963	741	118334											
OLFML2A	169611	broad.mit.edu	37	chr9	127549469	127549469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcaacccctgtgagaaCgagtggaagatggagaaact	11	9	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:127549469C>T	uc004bov.2	+	2	419	c.306C>T	c.(304-306)AAC>AAT	p.N102N	OLFML2A_uc010mwr.1_Silent_p.N102N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	102											0						CCTGTGAGAACGAGTGGAAGA	0.592													T	127549469	C	T	127549469	2	4	235	1	0	0	0	0	0	0	0	1	10857	535	19	1		1	OLFML2A	9	127549469	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1603001	127549469	13663962	742	118335											
MAPKAP1	79109	broad.mit.edu	37	chr9	128419995	128419995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggcactgttctaggcGtacagataatatcgactgct	11	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:128419995G>A	uc004bpv.2	-	4	766	c.433C>T	c.(433-435)CGC>TGC	p.R145C	MAPKAP1_uc011lzv.1_Translation_Start_Site|MAPKAP1_uc004bpw.2_Translation_Start_Site|MAPKAP1_uc004bpx.2_Translation_Start_Site|MAPKAP1_uc004bpy.2_Missense_Mutation_p.R145C|MAPKAP1_uc004bpz.2_Missense_Mutation_p.R145C|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.R145C|MAPKAP1_uc010mxc.1_Translation_Start_Site	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	145	Interaction with MAP3K2.				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			ovary(2)|lung(2)	4						TGTTCTAGGCGTACAGATAAT	0.393													A	128419995	G	A	128419995	3	1	235	1	0	0	0	0	1	0	0	0	9288	1145	40	1	1189	1	MAPKAP1	9	128419995	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	870526	128419995	12793436	743	118336											
LRSAM1	90678	broad.mit.edu	37	chr9	130236099	130236099	+	Frame_Shift_Del	DEL	C	C	-													gagtcagggctggaatactaCcccccttctcagtacttgct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:130236099delC	uc004brb.1	+	11	984	c.639delC	c.(637-639)TACfs	p.Y213fs	LRSAM1_uc010mxk.1_Frame_Shift_Del_p.Y213fs|LRSAM1_uc004brc.1_Frame_Shift_Del_p.Y213fs|LRSAM1_uc004brd.1_Frame_Shift_Del_p.Y213fs	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	213					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				0						TGGAATACTACCCCCCTTCTC	0.582													-	130236099	C	-	130236099	7	5	235	1	0	1	0	1	0	0	0	0	9043	518	18	0	673	0	LRSAM1	9	130236099	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1816104	130236099	10977332	744	118337											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653011	130653011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttggggaacaccaggccCgctcgctggatcacacgcac	12	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:130653011C>T	uc004bso.1	-	5	728	c.609G>A	c.(607-609)GCG>GCA	p.A203A	ST6GALNAC6_uc004bsn.1_Silent_p.A169A|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.A203A|ST6GALNAC6_uc004bsq.1_Silent_p.A169A|ST6GALNAC6_uc004bsr.2_Silent_p.A169A|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	203	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						ACACCAGGCCCGCTCGCTGGA	0.622													T	130653011	C	T	130653011	2	4	235	1	0	0	0	0	0	0	0	1	15227	639	23	1		1	ST6GALNAC6	9	130653011	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	416912	130653011	10560420	745	118338											
PTGES2	80142	broad.mit.edu	37	chr9	130889772	130889772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcaggtgccaccgcgcCgtgtggtacagccccagggc	16	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:130889772C>T	uc004bti.2	-	1	703	c.225G>A	c.(223-225)ACG>ACA	p.T75T	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Intron|PTGES2_uc004btl.2_Intron|PTGES2_uc004btm.2_Intron|LOC389791_uc004btn.2_5'Flank	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	75	Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						GCCACCGCGCCGTGTGGTACA	0.677													T	130889772	C	T	130889772	2	4	235	1	0	0	0	0	0	0	0	1	12747	639	23	1		1	PTGES2	9	130889772	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	236761	130889772	10323659	746	118339											
CCBL1	883	broad.mit.edu	37	chr9	131599998	131599998	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggggtgttgaggaccAgggctttggtgcgtgatgtg	20	4	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:131599998A>C	uc004bwh.2	-	6	718	c.533T>G	c.(532-534)CTG>CGG	p.L178R	CCBL1_uc004bwf.2_Missense_Mutation_p.L212R|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.L178R|CCBL1_uc004bwj.2_Missense_Mutation_p.L128R|CCBL1_uc011mbl.1_Missense_Mutation_p.L272R|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Intron	NM_004059	NP_004050	Q16773	KAT1_HUMAN	kynurenine aminotransferase I isoform a	178					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			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GTTGAGGACCAGGGCTTTGGT	0.607													C	131599998	A	C	131599998	3	2	235	1	0	0	0	0	1	0	0	0	2732	188	7	5	767	5	CCBL1	9	131599998	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	710226	131599998	9613433	747	118340											
NUP188	23511	broad.mit.edu	37	chr9	131745254	131745254	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcatcagtacagacctgtcGatagcagactgtctcctgcc	9	13	3	2	rs148151804	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:131745254G>A	uc004bws.1	+	17	1765	c.1743G>A	c.(1741-1743)TCG>TCA	p.S581S	NUP188_uc004bwu.2_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	581					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CAGACCTGTCGATAGCAGACT	0.527													A	131745254	G	A	131745254	2	1	235	1	0	0	0	0	0	0	0	1	10758	1045	37	1		1	NUP188	9	131745254	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	145256	131745254	9468177	748	118341											
NCS1	23413	broad.mit.edu	37	chr9	132980177	132980177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcttccagaagatctaCaagcaattcttcccgttcgg	9	12	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:132980177C>T	uc004bzi.2	+	3	242	c.156C>T	c.(154-156)TAC>TAT	p.Y52Y	NCS1_uc010myz.1_Silent_p.Y34Y	NM_014286	NP_055101	P62166	NCS1_HUMAN	frequenin homolog isoform 1	52	EF-hand 1.				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				0						AGAAGATCTACAAGCAATTCT	0.547													T	132980177	C	T	132980177	2	4	235	1	0	0	0	0	0	0	0	1	10240	489	17	4		4	NCS1	9	132980177	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1234923	132980177	8233254	749	118342											
NUP214	8021	broad.mit.edu	37	chr9	134010375	134010375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatcattactacctcAgttacattgaggaatggtga	9	8	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:134010375A>G	uc004cag.2	+	8	1033	c.922A>G	c.(922-924)AGT>GGT	p.S308G	NUP214_uc004cah.2_Missense_Mutation_p.S308G|NUP214_uc004caf.1_Missense_Mutation_p.S308G	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	308					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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTACTACCTCAGTTACATTGA	0.448			T	DEK|SET|ABL1	AML|T-ALL								G	134010375	A	G	134010375	3	3	235	1	0	0	0	0	1	0	0	0	10762	188	7	3	952	3	NUP214	9	134010375	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1030198	134010375	7203056	750	118343											
NTNG2	84628	broad.mit.edu	37	chr9	135073571	135073571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgaccttcgagtacggCcggcccacggtcatggtcct	13	13	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:135073571C>T	uc004cbh.2	+	3	1208	c.432C>T	c.(430-432)GGC>GGT	p.G144G		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	144	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCGAGTACGGCCGGCCCACGG	0.632													T	135073571	C	T	135073571	2	4	235	1	0	0	0	0	0	0	0	1	10705	726	26	2		2	NTNG2	9	135073571	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1063196	135073571	6139860	751	118344											
SETX	23064	broad.mit.edu	37	chr9	135224793	135224793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaagcaccacctggcGtacaccaacaacatgtgctc	10	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:135224793G>A	uc004cbk.2	-	3	206	c.23C>T	c.(22-24)ACG>ATG	p.T8M		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	8					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCACCTGGCGTACACCAACA	0.473													A	135224793	G	A	135224793	3	1	235	1	0	0	0	0	1	0	0	0	14141	1145	40	1	8106	1	SETX	9	135224793	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	151222	135224793	5988638	752	118345											
SARDH	1757	broad.mit.edu	37	chr9	136568075	136568075	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgaaggtgtactcgTctgccagcagcctgcggtag	16	10	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:136568075T>G	uc004cep.3	-	13	1765	c.1631A>C	c.(1630-1632)GAC>GCC	p.D544A	SARDH_uc004ceo.2_Missense_Mutation_p.D544A|SARDH_uc011mdn.1_Missense_Mutation_p.D544A|SARDH_uc011mdo.1_Missense_Mutation_p.D376A|SARDH_uc004cen.2_5'UTR	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	544					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTGTACTCGTCTGCCAGCAG	0.642													G	136568075	T	G	136568075	3	3	235	1	0	0	0	0	1	0	0	0	13841	1667	58	5	1161	5	SARDH	9	136568075	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1343282	136568075	4645356	753	118346											
SARDH	1757	broad.mit.edu	37	chr9	136594899	136594899	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacctacctgaatcccctcGatgcgctcggtgacgacata	8	16	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:136594899G>A	uc004cep.3	-	6	1037	c.903C>T	c.(901-903)ATC>ATT	p.I301I	SARDH_uc004ceo.2_Silent_p.I301I|SARDH_uc011mdn.1_Silent_p.I301I|SARDH_uc011mdo.1_Silent_p.I133I	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	301					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATCCCCTCGATGCGCTCGG	0.473													A	136594899	G	A	136594899	2	1	235	1	0	0	0	0	0	0	0	1	13841	1048	37	1		1	SARDH	9	136594899	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	26824	136594899	4618532	754	118347											
KIAA0649	9858	broad.mit.edu	37	chr9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-													cacacgcagccagagggccaGgggggtcccacatctggccg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:138379043delG	uc004cfr.1	+	4	3236	c.2687delG	c.(2686-2688)AGGfs	p.R896fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	896						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CAGAGGGCCAGGGGGGTCCCA	0.701													-	138379043	G	-	138379043	7	5	235	1	0	1	0	1	0	0	0	0	8187	1000	35	0	2689	0	KIAA0649	9	138379043	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1784144	138379043	2834388	755	118348											
MRPS2	51116	broad.mit.edu	37	chr9	138395799	138395799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcacctaccctgtaccCggcaatgacgactctccgct	6	18	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:138395799C>T	uc004cfv.3	+	4	785	c.711C>T	c.(709-711)CCC>CCT	p.P237P	MRPS2_uc004cfw.3_Silent_p.P147P|MRPS2_uc004cfx.3_Silent_p.P152P|MRPS2_uc010nat.2_Silent_p.P218P|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	237					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACCCTGTACCCGGCAATGACG	0.617													T	138395799	C	T	138395799	2	4	235	1	0	0	0	0	0	0	0	1	9831	639	23	1		1	MRPS2	9	138395799	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	16756	138395799	2817632	756	118349											
CAMSAP1	157922	broad.mit.edu	37	chr9	138712718	138712718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacccccggcttctggtcGccttcgctgacaaggtccgc	11	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:138712718G>A	uc004cgr.3	-	11	3789	c.3789C>T	c.(3787-3789)GGC>GGT	p.G1263G	CAMSAP1_uc004cgq.3_Silent_p.G1153G|CAMSAP1_uc010nbg.2_Silent_p.G985G	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1263						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCTTCTGGTCGCCTTCGCTGA	0.592													A	138712718	G	A	138712718	2	1	235	1	0	0	0	0	0	0	0	1	2611	1074	38	1		1	CAMSAP1	9	138712718	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	316919	138712718	2500713	757	118350											
SNAPC4	6621	broad.mit.edu	37	chr9	139272220	139272220	+	Frame_Shift_Del	DEL	C	C	-													gccgggttgtcctggagctgCccccgcaccagccccagtga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139272220delC	uc004chh.2	-	21	4068	c.4059delG	c.(4057-4059)GGGfs	p.G1353fs		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1353	SNAPC2-binding.				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTGGAGCTGCCCCCGCACCA	0.721													-	139272220	C	-	139272220	7	5	235	1	0	1	0	1	0	0	0	0	14837	726	26	0	358	0	SNAPC4	9	139272220	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	559502	139272220	1941211	758	118351											
SNAPC4	6621	broad.mit.edu	37	chr9	139272275	139272275	+	Frame_Shift_Del	DEL	C	C	-													cggccggccgctcagcctcgCcccccaccaccagggaggtg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139272275delC	uc004chh.2	-	21	4013	c.4004delG	c.(4003-4005)GGCfs	p.G1335fs		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1335	SNAPC2-binding.				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTCAGCCTCGCCCCCCACCAC	0.701													-	139272275	C	-	139272275	7	5	235	1	0	1	0	1	0	0	0	0	14837	739	26	0	413	0	SNAPC4	9	139272275	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	55	139272275	1941156	759	118352											
SEC16A	9919	broad.mit.edu	37	chr9	139358971	139358971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaacctggcacagacAtgaggcactgaaaatttttc	10	10	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139358971A>G	uc004chx.2	-	9	4656	c.4347T>C	c.(4345-4347)CAT>CAC	p.H1449H	SEC16A_uc004chv.3_Silent_p.H839H|SEC16A_uc004chw.2_Silent_p.H1449H|SEC16A_uc010nbn.2_Silent_p.H1449H	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1271					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGGCACAGACATGAGGCACTG	0.463													G	139358971	A	G	139358971	2	3	235	1	0	0	0	0	0	0	0	1	13986	214	8	3		3	SEC16A	9	139358971	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	86696	139358971	1854460	760	118353											
C9orf172	389813	broad.mit.edu	37	chr9	139740978	139740978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgccgcgaggactgggaCgcccacaaggcgcgctgcgt	16	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:139740978C>T	uc011meh.1	+	1	2112	c.2112C>T	c.(2110-2112)GAC>GAT	p.D704D	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	704											0						AGGACTGGGACGCCCACAAGG	0.677													T	139740978	C	T	139740978	2	4	235	1	0	0	0	0	0	0	0	1	2471	535	19	1		1	C9orf172	9	139740978	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	382007	139740978	1472453	761	118354											
TUBB2C	10383	broad.mit.edu	37	chr9	140137090	140137091	+	Frame_Shift_Ins	INS	-	-	G													agctgacccactccctgggtINSggggggactgggtctgggat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr9:140137090_140137091insG	uc004cmh.1	+	4	522_523	c.420_421insG	c.(418-423)GGTGGGfs	p.G140fs	TUBB2C_uc004cmg.1_5'UTR	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	140_141	GTP (Potential).				'de novo' posttranslational protein folding|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|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTCCCTGGGTGGGGGGACTGG	0.599													G	140137091	-	G	140137090	7	5	235	1	0	1	1	0	0	0	0	0	16753	1683	59	0	434	0	TUBB2C	9	140137090	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	396112	140137090	1076341	762	118355											
SFMBT2	57713	broad.mit.edu	37	chr10	7269848	7269848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagggaggggcttcctgcGccccatgctgcttgtgataa	14	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:7269848G>A	uc009xio.1	-	10	1263	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	SFMBT2_uc001ijn.1_Missense_Mutation_p.A391V|SFMBT2_uc010qay.1_Missense_Mutation_p.A391V	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	391	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GGCTTCCTGCGCCCCATGCTG	0.428													A	7269848	G	A	7269848	3	1	235	1	0	0	0	0	1	0	0	0	14158	1087	38	1	1560	1	SFMBT2	10	7269848	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08		7269848	128264899	763	118356											
OPTN	10133	broad.mit.edu	37	chr10	13154615	13154615	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggctcctcagaagattccTttgttgaaattaggatggct	11	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:13154615T>G	uc001ilu.1	+	6	970	c.532T>G	c.(532-534)TTT>GTT	p.F178V	OPTN_uc001ilv.1_Missense_Mutation_p.F178V|OPTN_uc001ilw.1_Missense_Mutation_p.F178V|OPTN_uc001ilx.1_Missense_Mutation_p.F178V|OPTN_uc001ily.1_Missense_Mutation_p.F178V|OPTN_uc010qbr.1_Missense_Mutation_p.F121V|OPTN_uc001ilz.1_Missense_Mutation_p.F178V	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	178	Interaction with Rab8.				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			ovary(2)	2						AGAAGATTCCTTTGTTGAAAT	0.448													G	13154615	T	G	13154615	3	3	235	1	0	0	0	0	1	0	0	0	10889	1609	56	5	542	5	OPTN	10	13154615	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	5884767	13154615	122380132	764	118357											
FAM171A1	221061	broad.mit.edu	37	chr10	15262985	15262986	+	Frame_Shift_Ins	INS	-	-	G													gccacccagtaccccaactgINSgggggcaatgtatgtccacg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:15262984_15262985T>TG	uc001iob.3	-	5	836_837	c.829_830A>CA	c.(829-831)cagfs	p.Q277fs		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	277						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						GTACCCCAACTGGGGGGCAATG	0.564													G	15262986	-	G	15262985	7	5	235	1	0	1	1	0	0	0	0	0	5490	1357	47	0	1855	0	FAM171A1	10	15262985	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2108370	15262985	120271762	765	118358											
SLC39A12	221074	broad.mit.edu	37	chr10	18276431	18276431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggctacagcacggtggctGtcacccttctcacactgggc	11	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:18276431G>A	uc001ipo.2	+	7	1393	c.1120G>A	c.(1120-1122)GTC>ATC	p.V374I	SLC39A12_uc001ipn.2_Missense_Mutation_p.V374I|SLC39A12_uc001ipp.2_Missense_Mutation_p.V374I|SLC39A12_uc010qck.1_Missense_Mutation_p.V240I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	374	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CACGGTGGCTGTCACCCTTCT	0.537													A	18276431	G	A	18276431	3	1	235	1	0	0	0	0	1	0	0	0	14615	1377	48	4	1142	4	SLC39A12	10	18276431	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3013446	18276431	117258316	766	118359											
MYO3A	53904	broad.mit.edu	37	chr10	26463094	26463094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaaaatgcaaacagcAtggaaaaagaaaagaagaca	7	5	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:26463094A>G	uc001isn.2	+	30	4261	c.3901A>G	c.(3901-3903)ATG>GTG	p.M1301V	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1301					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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TGCAAACAGCATGGAAAAAGA	0.443													G	26463094	A	G	26463094	3	3	235	1	0	0	0	0	1	0	0	0	10076	217	8	3	4011	3	MYO3A	10	26463094	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	8186663	26463094	109071653	767	118360											
PDSS1	23590	broad.mit.edu	37	chr10	26998620	26998620	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgagtactactttgaTgggaaagggaaagcctttcg	12	6	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:26998620T>C	uc001isv.2	+	5	436	c.390T>C	c.(388-390)GAT>GAC	p.D130D	PDSS1_uc001isw.2_Silent_p.D130D	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	130					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						ACTACTTTGATGGGAAAGGGA	0.398													C	26998620	T	C	26998620	2	2	235	1	0	0	0	0	0	0	0	1	11693	1461	51	3		3	PDSS1	10	26998620	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	535526	26998620	108536127	768	118361											
MPP7	143098	broad.mit.edu	37	chr10	28378660	28378660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgatacggtgtcacttcttCgtatgtgggtacgtcagctg	12	10	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:28378660C>T	uc001iua.1	-	14	1467	c.1063G>A	c.(1063-1065)GAA>AAA	p.E355K	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.E355K|MPP7_uc009xla.2_Missense_Mutation_p.E355K|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	355					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			ovary(1)	1						GTCACTTCTTCGTATGTGGGT	0.378													T	28378660	C	T	28378660	3	4	235	1	0	0	0	0	1	0	0	0	9739	893	31	1	691	1	MPP7	10	28378660	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1380040	28378660	107156087	769	118362											
SVIL	6840	broad.mit.edu	37	chr10	29782225	29782225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catattataatccacgctgcGgtaaaatttggcaaaggttt	8	7	0	0	rs141855067		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:29782225G>A	uc001iut.1	-	21	4690	c.3937C>T	c.(3937-3939)CGC>TGC	p.R1313C	SVIL_uc010qdw.1_Missense_Mutation_p.R227C|SVIL_uc001iuu.1_Missense_Mutation_p.R887C|SVIL_uc009xlc.2_Missense_Mutation_p.R105C	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1313					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TCCACGCTGCGGTAAAATTTG	0.468													A	29782225	G	A	29782225	3	1	235	1	0	0	0	0	1	0	0	0	15418	1116	39	1	2779	1	SVIL	10	29782225	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1403565	29782225	105752522	770	118363											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430911	37430911	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaacacctagggaaattacGagtcctgcaaaagaaacatc	8	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:37430911G>A	uc001iza.1	+	7	1017	c.918G>A	c.(916-918)ACG>ACA	p.T306T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GGGAAATTACGAGTCCTGCAA	0.428													A	37430911	G	A	37430911	2	1	235	1	0	0	0	0	0	0	0	1	658	1045	37	1		1	ANKRD30A	10	37430911	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7648686	37430911	98103836	771	118364											
ZNF488	118738	broad.mit.edu	37	chr10	48371037	48371037	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttagcaaaccaaccaagCgaccagcagagaggcctgag	10	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:48371037C>T	uc001jex.2	+	2	667	c.505C>T	c.(505-507)CGA>TGA	p.R169*	ZNF488_uc001jey.2_Nonsense_Mutation_p.R62*	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACCAACCAAGCGACCAGCAGA	0.587													T	48371037	C	T	48371037	4	4	235	1	0	0	0	0	0	1	0	0	17937	760	27	1	507	1	ZNF488	10	48371037	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	10940126	48371037	87163710	772	118365											
ARHGAP22	58504	broad.mit.edu	37	chr10	49687682	49687682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctacgggcagtacctcCgcccagcggggcccagatga	13	15	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:49687682C>T	uc001jgt.2	-	4	745	c.448G>A	c.(448-450)GGA>AGA	p.G150R	ARHGAP22_uc001jgs.2_Missense_Mutation_p.G60R|ARHGAP22_uc001jgu.2_Missense_Mutation_p.G150R|ARHGAP22_uc010qgl.1_Intron|ARHGAP22_uc010qgm.1_Missense_Mutation_p.G156R|ARHGAP22_uc001jgv.2_5'UTR|uc001jgw.2_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	150					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			ovary(1)	1						GCAGTACCTCCGCCCAGCGGG	0.662													T	49687682	C	T	49687682	3	4	235	1	0	0	0	0	1	0	0	0	872	661	23	1	1676	1	ARHGAP22	10	49687682	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1316645	49687682	85847065	773	118366											
C10orf71	118461	broad.mit.edu	37	chr10	50532282	50532282	+	Frame_Shift_Del	DEL	C	C	-													aaggagagacccgctgatgaCcccactgcatcacacatcaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:50532282delC	uc010qgp.1	+	3	2031	c.1692delC	c.(1690-1692)GACfs	p.D564fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	564											0						CCGCTGATGACCCCACTGCAT	0.532													-	50532282	C	-	50532282	7	5	235	1	0	1	0	1	0	0	0	0	1614	506	18	0	1694	0	C10orf71	10	50532282	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	844600	50532282	85002465	774	118367											
SLC18A3	6572	broad.mit.edu	37	chr10	50819159	50819159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcgaagacgtgaagatcGgggtgctgtttgcttccaag	15	7	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:50819159G>T	uc001jhw.2	+	1	813	c.373G>T	c.(373-375)GGG>TGG	p.G125W	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	125	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CGTGAAGATCGGGGTGCTGTT	0.652													T	50819159	G	T	50819159	3	4	235	1	0	0	0	0	1	0	0	0	14427	1116	39	5	375	5	SLC18A3	10	50819159	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	286877	50819159	84715588	775	118368											
NCOA4	8031	broad.mit.edu	37	chr10	51582227	51582227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctagttcagcaaatatTgggcccttcctggagaagag	11	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:51582227T>C	uc001jis.3	+	6	728	c.525T>C	c.(523-525)ATT>ATC	p.I175I	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.I191I|NCOA4_uc010qhd.1_Silent_p.I191I|NCOA4_uc010qhe.1_Silent_p.I75I|NCOA4_uc010qhf.1_Silent_p.I9I|NCOA4_uc001jit.2_Silent_p.I175I|NCOA4_uc009xoo.2_Silent_p.I175I	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	175					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						CAGCAAATATTGGGCCCTTCC	0.373			T	RET	papillary thyroid 								C	51582227	T	C	51582227	2	2	235	1	0	0	0	0	0	0	0	1	10231	1800	63	3		3	NCOA4	10	51582227	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	763068	51582227	83952520	776	118369											
A1CF	29974	broad.mit.edu	37	chr10	52570854	52570854	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattttgtacaagaatagcTgtctttggtcttgtccaata	7	6	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:52570854T>C	uc001jjj.2	-	11	1618	c.1430A>G	c.(1429-1431)CAG>CGG	p.Q477R	A1CF_uc010qhn.1_Missense_Mutation_p.Q477R|A1CF_uc001jji.2_Missense_Mutation_p.Q469R|A1CF_uc001jjh.2_Missense_Mutation_p.Q477R|A1CF_uc010qho.1_Missense_Mutation_p.Q485R|A1CF_uc009xov.2_Missense_Mutation_p.Q469R	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	477					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			central_nervous_system(1)	1						CAAGAATAGCTGTCTTTGGTC	0.398													C	52570854	T	C	52570854	3	2	235	1	0	0	0	0	1	0	0	0	2	1580	55	3	366	3	A1CF	10	52570854	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	988627	52570854	82963893	777	118370											
ANK3	288	broad.mit.edu	37	chr10	61831671	61831671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggacaatttttgtgataGttcatgttttggaaatgccg	11	5	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:61831671G>A	uc001jky.2	-	37	9160	c.8968C>T	c.(8968-8970)CTA>TTA	p.L2990L	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2990					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTTTGTGATAGTTCATGTTTT	0.388													A	61831671	G	A	61831671	2	1	235	1	0	0	0	0	0	0	0	1	622	1020	36	4		4	ANK3	10	61831671	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	9260817	61831671	73703076	778	118371											
RHOBTB1	9886	broad.mit.edu	37	chr10	62652608	62652608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgattaacagcttccaggtCggcatagcggagatcaagct	11	10	1	1	rs141139124	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:62652608C>T	uc001jli.2	-	6	880	c.442G>A	c.(442-444)GAC>AAC	p.D148N	RHOBTB1_uc001jlh.2_Missense_Mutation_p.D148N|RHOBTB1_uc001jlj.2_Missense_Mutation_p.D148N|RHOBTB1_uc001jlk.2_Missense_Mutation_p.D148N|RHOBTB1_uc009xpe.1_Intron	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					GCTTCCAGGTCGGCATAGCGG	0.502													T	62652608	C	T	62652608	3	4	235	1	0	0	0	0	1	0	0	0	13333	884	31	1	1676	1	RHOBTB1	10	62652608	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	820937	62652608	72882139	779	118372											
ARID5B	84159	broad.mit.edu	37	chr10	63852248	63852248	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagaacattggggcggCgcggccgatcaagcgcagcc	15	15	1	1	rs145564601		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:63852248C>G	uc001jlt.1	+	10	3052	c.3026C>G	c.(3025-3027)GCG>GGG	p.A1009G		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1009					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			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					ATTGGGGCGGCGCGGCCGATC	0.572													G	63852248	C	G	63852248	3	3	235	1	0	0	0	0	1	0	0	0	922	768	27	5	3064	5	ARID5B	10	63852248	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1199640	63852248	71682499	780	118373											
HERC4	26091	broad.mit.edu	37	chr10	69714858	69714858	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaaaagagaggagacAttctgcctgtgggcctgatc	15	7	1	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:69714858A>T	uc001jng.3	-	19	2390	c.2079T>A	c.(2077-2079)AAT>AAA	p.N693K	HERC4_uc009xpq.2_Missense_Mutation_p.N226K|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.N685K|HERC4_uc009xpr.2_Missense_Mutation_p.N693K|HERC4_uc001jni.3_Missense_Mutation_p.N429K	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	693					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						GAGAGGAGACATTCTGCCTGT	0.398													T	69714858	A	T	69714858	3	4	235	1	0	0	0	0	1	0	0	0	7060	214	8	5	1126	5	HERC4	10	69714858	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	5862610	69714858	65819889	781	118374											
DDX50	79009	broad.mit.edu	37	chr10	70706231	70706239	+	In_Frame_Del	DEL	TCAGGCCGG	TCAGGCCGG	-													gtggctggtcaagtggtcgaTcaggccggtcaggccggtca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:70706230_70706238ATCAGGCCGG>A	uc001jou.3	+	14	2165_2173	c.2058_2066ATCAGGCCGG>A	c.(2056-2067)cgatcaggccgg>cgAg	p.686_689RSGR>R		NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	686	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.R686*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CAAGTGGTCGATCAGGCCGGTCAGGCCGG	0.517													-	70706239	TCAGGCCGG	-	70706231	7	5	235	1	0	1	0	1	0	0	0	0	4368	1435	50	0	2117	0	DDX50	10	70706231	In_Frame_Del	DEL	TCAGGCCGG	TCGA-F1-6177-01A-11D-1800-08	991373	70706231	64828516	782	118375											
PPP3CB	5532	broad.mit.edu	37	chr10	75239200	75239200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaagtggttcttcagaAcatcaaccctgggtatccca	7	13	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:75239200A>G	uc001jue.2	-	2	296	c.161T>C	c.(160-162)GTT>GCT	p.V54A	PPP3CB_uc001juf.2_Missense_Mutation_p.V54A|PPP3CB_uc001jug.2_Missense_Mutation_p.V54A|PPP3CB_uc001jui.2_Missense_Mutation_p.V54A|PPP3CB_uc001juh.2_5'UTR	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	54	Catalytic.									skin(1)	1	Prostate(51;0.0119)					GTTCTTCAGAACATCAACCCT	0.418													G	75239200	A	G	75239200	3	3	235	1	0	0	0	0	1	0	0	0	12398	43	2	3	1468	3	PPP3CB	10	75239200	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	4532969	75239200	60295547	783	118376											
SEC24C	9632	broad.mit.edu	37	chr10	75525560	75525560	+	Splice_Site	DEL	C	C	-													ctgccatgcttcccacagttCccccccagtattttcagcac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:75525559_75525559TC>T	uc001juw.3	+	11	1547	c.1367_splice	c.e11-1	p.V456_splice	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Splice_Site_p.V314_splice|SEC24C_uc001jux.3_Splice_Site_p.V456_splice|SEC24C_uc010qko.2_Splice_Site_p.V337_splice|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum 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)					TTCCCACAGTTCCCCCCCAGT	0.512													-	75525560	C	-	75525560	8	5	235	1	0	1	0	1	0	0	1	0	13996	855	30	0	1403	0	SEC24C	10	75525560	Splice_Site	DEL	C	TCGA-F1-6177-01A-11D-1800-08	286360	75525560	60009187	784	118377											
MYST4	23522	broad.mit.edu	37	chr10	76744931	76744931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtattatgatgtcgagCcattccttttttatgtcctt	7	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:76744931C>T	uc001jwn.1	+	12	2960	c.2467C>T	c.(2467-2469)CCA>TCA	p.P823S	MYST4_uc001jwm.1_Missense_Mutation_p.P531S|MYST4_uc001jwo.1_Missense_Mutation_p.P531S|MYST4_uc001jwp.1_Missense_Mutation_p.P640S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	823	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TGATGTCGAGCCATTCCTTTT	0.388			T	CREBBP	AML								T	76744931	C	T	76744931	3	4	235	1	0	0	0	0	1	0	0	0	10105	739	26	2	2505	2	MYST4	10	76744931	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1219371	76744931	58789816	785	118378											
KCNMA1	3778	broad.mit.edu	37	chr10	78651358	78651358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctattggccagtgtctgCggggtgctgtagccacctct	12	13	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:78651358C>T	uc001jxn.2	-	26	3444	c.3267G>A	c.(3265-3267)CCG>CCA	p.P1089P	KCNMA1_uc001jxj.2_Silent_p.P1035P|KCNMA1_uc001jxk.1_Silent_p.P707P|KCNMA1_uc009xrt.1_Silent_p.P880P|KCNMA1_uc001jxl.1_Silent_p.P714P|KCNMA1_uc001jxo.2_Silent_p.P1072P|KCNMA1_uc001jxm.2_Silent_p.P1031P|KCNMA1_uc001jxq.2_Silent_p.P1061P|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1089	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	CCAGTGTCTGCGGGGTGCTGT	0.632													T	78651358	C	T	78651358	2	4	235	1	0	0	0	0	0	0	0	1	8073	755	27	1		1	KCNMA1	10	78651358	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1906427	78651358	56883389	786	118379											
CDHR1	92211	broad.mit.edu	37	chr10	85973046	85973046	+	Frame_Shift_Del	DEL	G	G	-													agaggtgcaggccaaggaccGgggctccccatccttcagca					rs150840551		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:85973046delG	uc001kcv.2	+	16	1982	c.1982delG	c.(1981-1983)CGGfs	p.R661fs	CDHR1_uc001kcw.2_Frame_Shift_Del_p.R661fs|CDHR1_uc009xst.2_Frame_Shift_Del_p.R365fs|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	661	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GCCAAGGACCGGGGCTCCCCA	0.562													-	85973046	G	-	85973046	7	5	235	1	0	1	0	1	0	0	0	0	3118	1116	39	0	2044	0	CDHR1	10	85973046	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	7321688	85973046	49561701	787	118380											
CDHR1	92211	broad.mit.edu	37	chr10	85974009	85974009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtcctgccaatgcggCgggtgctccgcaagcggccc	14	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:85974009C>T	uc001kcv.2	+	17	2212	c.2212C>T	c.(2212-2214)CGG>TGG	p.R738W	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R442W|CDHR1_uc001kcx.2_Missense_Mutation_p.R52W	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	738	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GCCAATGCGGCGGGTGCTCCG	0.622													T	85974009	C	T	85974009	3	4	235	1	0	0	0	0	1	0	0	0	3118	759	27	1	2278	1	CDHR1	10	85974009	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	963	85974009	49560738	788	118381											
LRIT1	26103	broad.mit.edu	37	chr10	85997322	85997322	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgctccaggcggcccagGggcctgaaggcctcgccagg	16	15	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:85997322G>T	uc001kcz.1	-	2	265	c.243C>A	c.(241-243)CCC>CCA	p.P81P		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	81	LRR 1.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GGCGGCCCAGGGGCCTGAAGG	0.721													T	85997322	G	T	85997322	2	4	235	1	0	0	0	0	0	0	0	1	8947	1219	43	5		5	LRIT1	10	85997322	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	23313	85997322	49537425	789	118382											
GRID1	2894	broad.mit.edu	37	chr10	87966268	87966268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggtggcatgcggtgcGtggcgaccctcccgggttgc	17	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:87966268G>A	uc001kdl.1	-	3	474	c.373C>T	c.(373-375)CGC>TGC	p.R125C	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	125	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CATGCGGTGCGTGGCGACCCT	0.632										Multiple Myeloma(13;0.14)			A	87966268	G	A	87966268	3	1	235	1	0	0	0	0	1	0	0	0	6771	1145	40	1	2712	1	GRID1	10	87966268	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1968946	87966268	47568479	790	118383											
KIF20B	9585	broad.mit.edu	37	chr10	91478521	91478521	+	Frame_Shift_Del	DEL	T	T	-													ctgactcactattttcaaagTttttttaatggtaaagggaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:91478521delT	uc001kgs.1	+	12	1398	c.1326delT	c.(1324-1326)AGTfs	p.S442fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.S442fs	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	442					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			ovary(1)|pancreas(1)|skin(1)	3						ATTTTCAAAGTTTTTTTAATG	0.323													-	91478521	T	-	91478521	7	5	235	1	0	1	0	1	0	0	0	0	8287	1722	60	0	1368	0	KIF20B	10	91478521	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	3512253	91478521	44056226	791	118384											
CYP26C1	340665	broad.mit.edu	37	chr10	94825964	94825964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgcgctacgtcgactgCgtggtcaaggaggtgctgcg	16	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:94825964C>T	uc010qns.1	+	5	1113	c.1113C>T	c.(1111-1113)TGC>TGT	p.C371C	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	371					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)	1		Colorectal(252;0.122)				ACGTCGACTGCGTGGTCAAGG	0.582													T	94825964	C	T	94825964	2	4	235	1	0	0	0	0	0	0	0	1	4157	776	27	1		1	CYP26C1	10	94825964	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3347443	94825964	40708783	792	118385											
CYP26A1	1592	broad.mit.edu	37	chr10	94833853	94833854	+	Frame_Shift_Ins	INS	-	-	G													ctatgggcttccccttctttINSggggaaaccttgcagatggt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:94833853_94833854insG	uc001kil.2	+	1	207_208	c.162_163insG	c.(160-165)TTTGGGfs	p.F54fs	CYP26A1_uc001kik.1_Intron|CYP26A1_uc001kim.1_5'Flank	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	54_55					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				TCCCCTTCTTTGGGGAAACCTT	0.663													G	94833854	-	G	94833853	7	5	235	1	0	1	1	0	0	0	0	0	4155	1809	63	0	164	0	CYP26A1	10	94833853	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	7889	94833853	40700894	793	118386											
CYP26A1	1592	broad.mit.edu	37	chr10	94834065	94834065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgccttcctcccacagCggaggaagttcctgcagatg	10	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:94834065C>T	uc001kil.2	+	2	235	c.190C>T	c.(190-192)CGG>TGG	p.R64W	CYP26A1_uc001kik.1_5'UTR|CYP26A1_uc001kim.1_5'UTR	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	64					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CCTCCCACAGCGGAGGAAGTT	0.652													T	94834065	C	T	94834065	3	4	235	1	0	0	0	0	1	0	0	0	4155	782	27	1	196	1	CYP26A1	10	94834065	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	212	94834065	40700682	794	118387											
ALDH18A1	5832	broad.mit.edu	37	chr10	97397084	97397084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgagtggagggcctgcCgcacgctctgagacagaagg	16	13	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:97397084C>T	uc001kkz.2	-	4	655	c.413G>A	c.(412-414)CGG>CAG	p.R138Q	ALDH18A1_uc001kky.2_Missense_Mutation_p.R138Q|ALDH18A1_uc010qog.1_Missense_Mutation_p.R27Q|ALDH18A1_uc010qoh.1_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	138	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GAGGGCCTGCCGCACGCTCTG	0.547													T	97397084	C	T	97397084	3	4	235	1	0	0	0	0	1	0	0	0	489	652	23	1	2034	1	ALDH18A1	10	97397084	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2563019	97397084	38137663	795	118388											
PIK3AP1	118788	broad.mit.edu	37	chr10	98376420	98376421	+	Frame_Shift_Del	DEL	TC	TC	-													ctgctttcctgatttttgctTctctctctgtcttcgggtga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:98376420_98376421delTC	uc001kmq.2	-	13	2117_2118	c.1989_1990delGA	c.(1987-1992)GAGAAGfs	p.E663fs	PIK3AP1_uc001kmo.2_Frame_Shift_Del_p.E262fs|PIK3AP1_uc001kmp.2_Frame_Shift_Del_p.E485fs	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	663_664	Potential.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GATTTTTGCTTCTCTCTCTGTC	0.431													-	98376421	TC	-	98376420	7	5	235	1	0	1	0	1	0	0	0	0	11908	1792	62	0	447	0	PIK3AP1	10	98376420	Frame_Shift_Del	DEL	TC	TCGA-F1-6177-01A-11D-1800-08	979336	98376420	37158327	796	118389											
UBTD1	80019	broad.mit.edu	37	chr10	99330045	99330045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgcgccgtgagttccCgctgaaggtgcgcctgtcca	14	14	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:99330045C>A	uc001knv.1	+	3	642	c.449C>A	c.(448-450)CCG>CAG	p.P150Q	ANKRD2_uc001knw.2_5'Flank|ANKRD2_uc009xvu.2_5'Flank	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	150	Ubiquitin-like.										0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CGTGAGTTCCCGCTGAAGGTG	0.692													A	99330045	C	A	99330045	3	1	235	1	0	0	0	0	1	0	0	0	16904	652	23	5	459	5	UBTD1	10	99330045	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	953625	99330045	36204702	797	118390											
C10orf2	56652	broad.mit.edu	37	chr10	102749454	102749454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtatgccctggatttgTgttcccagggggtgaacaca	14	8	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:102749454T>C	uc001ksf.2	+	2	1972	c.1297T>C	c.(1297-1299)TGT>CGT	p.C433R	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.C433R|C10orf2_uc001ksi.2_5'UTR|C10orf2_uc010qpv.1_5'UTR|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	433	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			ovary(1)	1		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)		CCTGGATTTGTGTTCCCAGGG	0.567													C	102749454	T	C	102749454	3	2	235	1	0	0	0	0	1	0	0	0	1597	1696	59	3	1303	3	C10orf2	10	102749454	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3419409	102749454	32785293	798	118391											
TLX1	3195	broad.mit.edu	37	chr10	102896546	102896546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagagcctggcacagcCgctgcccgctgaccctctgt	11	17	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:102896546C>T	uc001ksw.2	+	3	1107	c.869C>T	c.(868-870)CCG>CTG	p.P290L		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	290						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTGGCACAGCCGCTGCCCGCT	0.632			T	TRB@|TRD@	T-ALL								T	102896546	C	T	102896546	3	4	235	1	0	0	0	0	1	0	0	0	15956	652	23	1	879	1	TLX1	10	102896546	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	147092	102896546	32638201	799	118392											
POLL	27343	broad.mit.edu	37	chr10	103339389	103339389	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggttttggccagggctcGcatggagcggttgaagtgtg	17	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:103339389G>A	uc001ktg.1	-	8	2315	c.1549C>T	c.(1549-1551)CGA>TGA	p.R517*	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Nonsense_Mutation_p.R190*|POLL_uc001kte.1_Nonsense_Mutation_p.R209*|POLL_uc001kth.1_Nonsense_Mutation_p.R242*|POLL_uc001kti.1_Nonsense_Mutation_p.R517*|POLL_uc001ktj.1_Nonsense_Mutation_p.R517*|POLL_uc001ktf.2_Nonsense_Mutation_p.R425*|POLL_uc001ktk.1_Nonsense_Mutation_p.R256*|POLL_uc010qqa.1_Nonsense_Mutation_p.R256*|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Nonsense_Mutation_p.R517*|POLL_uc001ktl.2_Nonsense_Mutation_p.R429*|POLL_uc010qqc.1_Nonsense_Mutation_p.R209*	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	517					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCCAGGGCTCGCATGGAGCGG	0.627								DNA_polymerases_(catalytic_subunits)					A	103339389	G	A	103339389	4	1	235	1	0	0	0	0	0	1	0	0	12205	1095	38	1	182	1	POLL	10	103339389	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	442843	103339389	32195358	800	118393											
PSD	5662	broad.mit.edu	37	chr10	104174959	104174959	+	Frame_Shift_Del	DEL	G	G	-													agcccaccccaggtggagatGggggggcctgctctgggggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:104174959delG	uc001kvg.1	-	4	1312	c.785delC	c.(784-786)CCAfs	p.P262fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P262fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	262					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGTGGAGATGGGGGGGCCTG	0.627													-	104174959	G	-	104174959	7	5	235	1	0	1	0	1	0	0	0	0	12646	1348	47	0	2345	0	PSD	10	104174959	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	835570	104174959	31359788	801	118394											
NT5C2	22978	broad.mit.edu	37	chr10	104854154	104854154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaaaaagagtggtttcCgtgcatccaccaagatcaag	8	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:104854154C>T	uc001kwo.2	-	13	1058	c.872G>A	c.(871-873)CGG>CAG	p.R291Q	NT5C2_uc010qqp.1_Missense_Mutation_p.R262Q|NT5C2_uc001kwq.2_Missense_Mutation_p.R291Q|NT5C2_uc001kwp.2_Missense_Mutation_p.R138Q	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	291					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		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)	GAGTGGTTTCCGTGCATCCAC	0.458													T	104854154	C	T	104854154	3	4	235	1	0	0	0	0	1	0	0	0	10687	652	23	1	841	1	NT5C2	10	104854154	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	679195	104854154	30680593	802	118395											
ADD3	120	broad.mit.edu	37	chr10	111882009	111882009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaaaaatggaaggttggcGaaattgagtttgaagggctt	13	3	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:111882009G>A	uc001kyt.3	+	10	1416	c.1102G>A	c.(1102-1104)GAA>AAA	p.E368K	ADD3_uc001kys.3_Missense_Mutation_p.E368K|ADD3_uc001kyu.2_Missense_Mutation_p.E368K|ADD3_uc001kyv.2_Missense_Mutation_p.E368K|ADD3_uc001kyw.2_Missense_Mutation_p.E368K|ADD3_uc001kyx.2_5'Flank	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	368						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		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)		GAAGGTTGGCGAAATTGAGTT	0.413													A	111882009	G	A	111882009	3	1	235	1	0	0	0	0	1	0	0	0	306	1059	37	1	1132	1	ADD3	10	111882009	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7027855	111882009	23652738	803	118396											
ADRA2A	150	broad.mit.edu	37	chr10	112838876	112838876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtcggggctgccaaggcGtcgcgctggcgcgggcggca	20	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:112838876G>A	uc001kzo.2	+	1	2087	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	359	Cytoplasmic (By similarity).			PRRGPGATGIGTPAAGPGEERVGAAKASRWRGR -> RGAG RGRRGSGRRLQGRGRSASGLPRRRAGAGG (in Ref. 1; AAA51664 and 2; AAA51665).	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CTGCCAAGGCGTCGCGCTGGC	0.622													A	112838876	G	A	112838876	2	1	235	1	0	0	0	0	0	0	0	1	337	1132	40	1		1	ADRA2A	10	112838876	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	956867	112838876	22695871	804	118397											
DCLRE1A	9937	broad.mit.edu	37	chr10	115608932	115608932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgacacgctccttcctgCagtgaatttgactttctaca	6	12	2	3	rs144798018		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:115608932C>T	uc001law.2	-	2	2850	c.1932G>A	c.(1930-1932)CTG>CTA	p.L644L		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	644					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTCCTTCCTGCAGTGAATTTG	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	115608932	C	T	115608932	2	4	235	1	0	0	0	0	0	0	0	1	4294	697	25	2		2	DCLRE1A	10	115608932	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2770056	115608932	19925815	805	118398											
ADRB1	153	broad.mit.edu	37	chr10	115804493	115804493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatgcactggtggcgggCggagagcgacgaggcgcgcc	18	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:115804493C>T	uc001lba.2	+	1	688	c.602C>T	c.(601-603)GCG>GTG	p.A201V		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	201	Extracellular (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		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)	TGGTGGCGGGCGGAGAGCGAC	0.587													T	115804493	C	T	115804493	3	4	235	1	0	0	0	0	1	0	0	0	340	768	27	1	604	1	ADRB1	10	115804493	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	195561	115804493	19730254	806	118399											
KIAA1598	57698	broad.mit.edu	37	chr10	118661342	118661343	+	Frame_Shift_Ins	INS	-	-	G													ttcacctggctcaggtgttgINSggggggacgggctgttgaat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:118661341_118661342T>TG	uc021pzk.1	-	15	2105_2106	c.1607_1608A>CA	c.(1606-1608)ccafs	p.P536fs	KIAA1598_uc009xyw.3_Frame_Shift_Ins_p.P536fs|KIAA1598_uc001lcz.4_Intron|KIAA1598_uc010qso.2_Frame_Shift_Ins_p.P476fs|KIAA1598_uc010qsp.1_Frame_Shift_Ins_p.P536fs|KIAA1598_uc010qsq.1_Frame_Shift_Ins_p.P476fs|KIAA1598_uc001lcy.4_Frame_Shift_Ins_p.P506fs	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	536					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCAGGTGTTGGGGGGGACGG	0.475													G	118661343	-	G	118661342	7	5	235	1	0	1	1	0	0	0	0	0	8246	1348	47	0	296	0	KIAA1598	10	118661342	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2856849	118661342	16873405	807	118400											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122348837	122348837	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctttgtgggtggagtcatCggcctcatttttgcatacat	10	9	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:122348837C>T	uc001lev.1	+	7	991	c.639C>T	c.(637-639)ATC>ATT	p.I213I	PPAPDC1A_uc009xzl.1_Silent_p.I150I|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.S63L|PPAPDC1A_uc001ley.1_Silent_p.I92I	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	213	Helical; (Potential).				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTGGAGTCATCGGCCTCATTT	0.468													T	122348837	C	T	122348837	2	4	235	1	0	0	0	0	0	0	0	1	12293	874	31	1		1	PPAPDC1A	10	122348837	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3687495	122348837	13185910	808	118401											
DMBT1	1755	broad.mit.edu	37	chr10	124390712	124390712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagagtgctcagggacGgaatccactctctggcagtg	14	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124390712G>A	uc001lgk.1	+	46	5980	c.5874G>A	c.(5872-5874)ACG>ACA	p.T1958T	DMBT1_uc001lgl.1_Silent_p.T1948T|DMBT1_uc001lgm.1_Silent_p.T1330T|DMBT1_uc009xzz.1_Silent_p.T1958T|DMBT1_uc010qtx.1_Silent_p.T678T|DMBT1_uc009yab.1_Silent_p.T661T|DMBT1_uc009yac.1_Silent_p.T252T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1958	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGGACGGAATCCACTC	0.557													A	124390712	G	A	124390712	2	1	235	1	0	0	0	0	0	0	0	1	4577	1103	39	1		1	DMBT1	10	124390712	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2041875	124390712	11144035	809	118402											
C10orf88	80007	broad.mit.edu	37	chr10	124711509	124711510	+	Frame_Shift_Ins	INS	-	-	T													tggaggactccaattttagaINSttttttttatacaaaatgat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124711509_124711510insT	uc001lgw.2	-	3	626_627	c.401_402insA	c.(400-402)AATfs	p.N134fs	C10orf88_uc001lgx.2_Frame_Shift_Ins_p.N36fs	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	134											0		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)		CCAATTTTAGATTTTTTTTATA	0.238													T	124711510	-	T	124711509	7	5	235	1	0	1	1	0	0	0	0	0	1622	330	12	0	951	0	C10orf88	10	124711509	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	320797	124711509	10823238	810	118403	586	2									
C10orf88	80007	broad.mit.edu	37	chr10	124711510	124711511	+	Frame_Shift_Ins	INS	-	-	T													ggaggactccaattttagatINStttttttatacaaaatgatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124711509_124711510A>AT	uc001lgw.2	-	2	626_627	c.401_402T>AT	c.(400-402)aatfs	p.N134fs	C10orf88_uc001lgx.2_Frame_Shift_Ins_p.N36fs	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	134								p.N134fs*2(2)		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)		CCAATTTTAGATTTTTTTTATA	0.243													T	124711511	-	T	124711510	7	5	235	1	0	1	1	0	0	0	0	0	1622	1493	52	0	952	0	C10orf88	10	124711510	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	124711510	10823237	811	118404	586	2									
IKZF5	64376	broad.mit.edu	37	chr10	124754119	124754119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttacttcgatcactgcagCggaaggaacataattcacat	8	9	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:124754119C>T	uc001lha.2	-	5	736	c.437G>A	c.(436-438)CGC>CAC	p.R146H	IKZF5_uc001lgz.2_5'UTR	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	146	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		ATCACTGCAGCGGAAGGAACA	0.423													T	124754119	C	T	124754119	3	4	235	1	0	0	0	0	1	0	0	0	7618	768	27	1	826	1	IKZF5	10	124754119	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	42609	124754119	10780628	812	118405											
C10orf90	118611	broad.mit.edu	37	chr10	128193320	128193320	+	Frame_Shift_Del	DEL	G	G	-													cccacaccagggcgcgggctGgggggcccacgcgtctggcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:128193320delG	uc001ljq.2	-	3	570	c.449delC	c.(448-450)CCAfs	p.P150fs	C10orf90_uc001ljp.2_Frame_Shift_Del_p.P103fs|C10orf90_uc010qum.1_Frame_Shift_Del_p.P247fs|C10orf90_uc009yao.2_Frame_Shift_Del_p.P247fs|C10orf90_uc001ljs.1_Frame_Shift_Del_p.P103fs	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	150										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGCGCGGGCTGGGGGGCCCAC	0.697											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	128193320	G	-	128193320	7	5	235	1	0	1	0	1	0	0	0	0	1623	1348	47	0	1678	0	C10orf90	10	128193320	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	3439201	128193320	7341427	813	118406											
DOCK1	1793	broad.mit.edu	37	chr10	129245705	129245705	+	Frame_Shift_Del	DEL	C	C	-													cggacgtggccgatgtcccaCcccctctgcctctcaaaggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:129245705delC	uc001ljt.2	+	51	5462	c.5398delC	c.(5398-5400)CCCfs	p.P1800fs	DOCK1_uc010qun.1_Frame_Shift_Del_p.P1821fs|DOCK1_uc009yaq.2_Frame_Shift_Del_p.T799fs|DOCK1_uc001ljw.1_5'Flank	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1800	SH3-binding; interaction with CRK (Potential).|Interaction with NCK2 second and third SH3 domain (minor).				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			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		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)		CGATGTCCCACCCCCTCTGCC	0.592													-	129245705	C	-	129245705	7	5	235	1	0	1	0	1	0	0	0	0	4684	507	18	0	5600	0	DOCK1	10	129245705	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1052385	129245705	6289042	814	118407											
MKI67	4288	broad.mit.edu	37	chr10	129902696	129902696	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttgaggttttgaatgactCtggctgtggagatttacagg	13	5	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:129902696C>A	uc001lke.2	-	13	7603	c.7408G>T	c.(7408-7410)GAG>TAG	p.E2470*	MKI67_uc001lkf.2_Nonsense_Mutation_p.E2110*|MKI67_uc009yav.1_Nonsense_Mutation_p.E2045*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E1620*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2470	16 X 122 AA approximate repeats.|13.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TTGAATGACTCTGGCTGTGGA	0.473													A	129902696	C	A	129902696	4	1	235	1	0	0	0	0	0	1	0	0	9598	922	32	5	2374	5	MKI67	10	129902696	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	656991	129902696	5632051	815	118408											
GPR123	84435	broad.mit.edu	37	chr10	134942441	134942441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaccaacctgcaggccgCgcagggccacgccagttgcc	13	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:134942441C>T	uc001llx.3	+	7	1545	c.1109C>T	c.(1108-1110)GCG>GTG	p.A370V	GPR123_uc001llw.2_Missense_Mutation_p.A1089V	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	370	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		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)		CTGCAGGCCGCGCAGGGCCAC	0.741													T	134942441	C	T	134942441	3	4	235	1	0	0	0	0	1	0	0	0	6637	768	27	1	1131	1	GPR123	10	134942441	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5039745	134942441	592306	816	118409											
TUBGCP2	10844	broad.mit.edu	37	chr10	135101642	135101642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacccaccttgaggtcGtccttgaaggggtcagtgtt	11	14	1	2	rs145076825		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr10:135101642G>A	uc001lmg.1	-	11	2070	c.1713C>T	c.(1711-1713)GAC>GAT	p.D571D	TUBGCP2_uc001lmf.1_Silent_p.D164D|TUBGCP2_uc010qvc.1_Silent_p.D599D|TUBGCP2_uc009ybk.1_Silent_p.D571D|TUBGCP2_uc010qvd.1_Silent_p.D441D|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	571					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		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)		CCTTGAGGTCGTCCTTGAAGG	0.697													A	135101642	G	A	135101642	2	1	235	1	0	0	0	0	0	0	0	1	16763	1136	40	1		1	TUBGCP2	10	135101642	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	159201	135101642	433105	817	118410											
B4GALNT4	338707	broad.mit.edu	37	chr11	373457	373457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccccccagactggctcCgagtggacagcgcctggaga	12	15	1	2	rs143213010		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:373457C>T	uc001lpb.2	+	7	654	c.645C>T	c.(643-645)TCC>TCT	p.S215S		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	215	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		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)		AGACTGGCTCCGAGTGGACAG	0.617													T	373457	C	T	373457	2	4	235	1	0	0	0	0	0	0	0	1	1269	639	23	1		1	B4GALNT4	11	373457	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08		373457	134633059	818	118411											
PKP3	11187	broad.mit.edu	37	chr11	403637	403637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcgggggtgctgagccGcctggccctggagcaggagc	21	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:403637G>A	uc001lpc.2	+	10	2019	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	648	ARM 7.				cell adhesion	desmosome|nucleus	binding			skin(1)	1		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)		GTGCTGAGCCGCCTGGCCCTG	0.677													A	403637	G	A	403637	3	1	235	1	0	0	0	0	1	0	0	0	11986	1087	38	1	1981	1	PKP3	11	403637	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	30180	403637	134602879	819	118412											
RNH1	6050	broad.mit.edu	37	chr11	494953	494953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgccggcgtcccccaGgcagttgttgctgaggtcca	14	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:494953G>A	uc001lpk.1	-	8	2636	c.1228C>T	c.(1228-1230)CTG>TTG	p.L410L	RNH1_uc001lpl.1_Silent_p.L410L|RNH1_uc001lpm.1_Silent_p.L410L|RNH1_uc001lpn.1_Silent_p.L410L|RNH1_uc001lpo.1_Silent_p.L410L|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.L410L|RNH1_uc001lpt.1_Silent_p.L167L|RNH1_uc001lpq.1_Silent_p.L410L|RNH1_uc001lpr.1_Silent_p.L410L|RNH1_uc001lps.1_Silent_p.L410L	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	410	LRR 14.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		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)		GCGTCCCCCAGGCAGTTGTTG	0.682													A	494953	G	A	494953	2	1	235	1	0	0	0	0	0	0	0	1	13504	991	35	4		4	RNH1	11	494953	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	91316	494953	134511563	820	118413											
CDHR5	53841	broad.mit.edu	37	chr11	621813	621813	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcggcttcgctggcctcaccTcctccacccttatctccttg	7	19	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:621813T>A	uc001lqj.2	-	4	509	c.404A>T	c.(403-405)GAG>GTG	p.E135V	CDHR5_uc001lqk.2_Missense_Mutation_p.E135V|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.E135V|CDHR5_uc001lql.2_Missense_Mutation_p.E135V|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Intron	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	135	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TGGCCTCACCTCCTCCACCCT	0.637													A	621813	T	A	621813	3	1	235	1	0	0	0	0	1	0	0	0	3122	1565	54	5	2181	5	CDHR5	11	621813	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	126860	621813	134384703	821	118414											
EPS8L2	64787	broad.mit.edu	37	chr11	723257	723257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggtgagtccagtgagccGacagtccataagaaactccc	10	12	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:723257G>A	uc001lqt.2	+	15	1605	c.1358G>A	c.(1357-1359)CGA>CAA	p.R453Q	EPS8L2_uc001lqu.2_Missense_Mutation_p.R453Q|EPS8L2_uc010qwk.1_Missense_Mutation_p.R469Q|EPS8L2_uc001lqv.2_Missense_Mutation_p.R408Q|EPS8L2_uc001lqw.2_Missense_Mutation_p.R65Q|EPS8L2_uc001lqx.2_Missense_Mutation_p.R65Q|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	453						cytoplasm				pancreas(1)	1		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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGTGAGCCGACAGTCCATA	0.627											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	723257	G	A	723257	3	1	235	1	0	0	0	0	1	0	0	0	5196	1058	37	1	1412	1	EPS8L2	11	723257	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	101444	723257	134283259	822	118415											
PDDC1	347862	broad.mit.edu	37	chr11	771068	771068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcctgtgaccaggtggCggtccagcacgacgtggaca	15	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:771068C>T	uc001lrc.2	-	7	606	c.581G>A	c.(580-582)CGC>CAC	p.R194H	PDDC1_uc010qwm.1_Missense_Mutation_p.R144H|PDDC1_uc001lrd.2_Intron|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_3'UTR|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.R158H|PDDC1_uc010qwq.1_Missense_Mutation_p.R108H|PDDC1_uc010qwr.1_Missense_Mutation_p.R194H|PDDC1_uc010qws.1_Missense_Mutation_p.R144H	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	194						extracellular region					0		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;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCAGGTGGCGGTCCAGCAC	0.647													T	771068	C	T	771068	3	4	235	1	0	0	0	0	1	0	0	0	11629	768	27	1	89	1	PDDC1	11	771068	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	47811	771068	134235448	823	118416											
MUC2	4583	broad.mit.edu	37	chr11	1092334	1092334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttacgactacaagataCgtgtcaattgttgctggccc	10	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1092334C>T	uc001lsx.1	+	30	4180	c.4153C>T	c.(4153-4155)CGT>TGT	p.R1385C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1385						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	CTACAAGATACGTGTCAATTG	0.418													T	1092334	C	T	1092334	3	4	235	1	0	0	0	0	1	0	0	0	9975	536	19	1	4271	1	MUC2	11	1092334	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	321266	1092334	133914182	824	118417											
MUC5B	727897	broad.mit.edu	37	chr11	1270971	1270971	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaccagcccggccacCacacccacagccaccagttc	8	20	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1270971C>G	uc009ycr.1	+	51	14406	c.14280C>G	c.(14278-14280)ACC>ACG	p.T4760T	MUC5B_uc001ltb.2_Silent_p.T4290T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4287	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GCCCGGCCACCACACCCACAG	0.617													G	1270971	C	G	1270971	2	3	235	1	0	0	0	0	0	0	0	1	9979	581	21	5		5	MUC5B	11	1270971	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	178637	1270971	133735545	825	118418			1	58		3	3	113	C		1.5327e-05
MUC5B	727897	broad.mit.edu	37	chr11	1270982	1270982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccaccacacccacagCcaccagttccaaagccactt	5	21	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1270982C>T	uc009ycr.1	+	51	14417	c.14291C>T	c.(14290-14292)GCC>GTC	p.A4764V	MUC5B_uc001ltb.2_Missense_Mutation_p.A4294V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4291	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		ACACCCACAGCCACCAGTTCC	0.612													T	1270982	C	T	1270982	3	4	235	1	0	0	0	0	1	0	0	0	9979	739	26	2	13003	2	MUC5B	11	1270982	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	11	1270982	133735534	826	118419			1	58		3	3	113	C		1.5327e-05
MUC5B	727897	broad.mit.edu	37	chr11	1271083	1271083	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccacagctaccagcgttacaCccatcccctcctccaccctt	3	22	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:1271083C>G	uc009ycr.1	+	51	14518	c.14392C>G	c.(14392-14394)CCC>GCC	p.P4798A	MUC5B_uc001ltb.2_Missense_Mutation_p.P4328A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4325	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CAGCGTTACACCCATCCCCTC	0.607													G	1271083	C	G	1271083	3	3	235	1	0	0	0	0	1	0	0	0	9979	507	18	5	13104	5	MUC5B	11	1271083	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	101	1271083	133735433	827	118420			1	58		3	3	113	C		1.5327e-05
MRGPRE	116534	broad.mit.edu	37	chr11	3249838	3249838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagatccgcgcaggccacGtccaggaggtagatggcgaa	15	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:3249838G>A	uc001lxq.3	-	2	499	c.189C>T	c.(187-189)GAC>GAT	p.D63D		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	63	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647													A	3249838	G	A	3249838	2	1	235	1	0	0	0	0	0	0	0	1	9764	1136	40	1		1	MRGPRE	11	3249838	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1978755	3249838	131756678	828	118421											
OR52K1	390036	broad.mit.edu	37	chr11	4510486	4510486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcagcagtgctgctggCcatggcctttgaccgctatg	14	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:4510486C>A	uc001lza.1	+	1	356	c.356C>A	c.(355-357)GCC>GAC	p.A119D		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		GTGCTGCTGGCCATGGCCTTT	0.537													A	4510486	C	A	4510486	3	1	235	1	0	0	0	0	1	0	0	0	11123	739	26	5	358	5	OR52K1	11	4510486	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1260648	4510486	130496030	829	118422											
OR52A5	390054	broad.mit.edu	37	chr11	5153517	5153517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagcgatccagggccattGccagaaggatacccgattca	10	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:5153517G>A	uc010qyx.1	-	1	356	c.356C>T	c.(355-357)GCA>GTA	p.A119V		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		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)		CAGGGCCATTGCCAGAAGGAT	0.453													A	5153517	G	A	5153517	3	1	235	1	0	0	0	0	1	0	0	0	11110	1319	46	2	597	2	OR52A5	11	5153517	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	643031	5153517	129852999	830	118423											
OR51B2	79345	broad.mit.edu	37	chr11	5345106	5345106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacactcccactcctaacGctatgactctagtattggtg	7	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:5345106G>A	uc001mao.1	-	1	477	c.422C>T	c.(421-423)GCG>GTG	p.A141V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		CACTCCTAACGCTATGACTCT	0.413													A	5345106	G	A	5345106	3	1	235	1	0	0	0	0	1	0	0	0	11089	1087	38	1	520	1	OR51B2	11	5345106	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	191589	5345106	129661410	831	118424											
TRIM5	85363	broad.mit.edu	37	chr11	5686300	5686300	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagcactacatttaacTccttcctctaaccctataac	3	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:5686300T>G	uc001mbm.1	-	8	1478	c.1221A>C	c.(1219-1221)GGA>GGC	p.G407G	TRIM78P_uc009yer.2_Intron|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	407	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		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)		TACATTTAACTCCTTCCTCTA	0.403													G	5686300	T	G	5686300	2	3	235	1	0	0	0	0	0	0	0	1	16522	1538	54	5		5	TRIM5	11	5686300	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	341194	5686300	129320216	832	118425											
OR52W1	120787	broad.mit.edu	37	chr11	6220577	6220577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgggcccatttatctgCtggccctgctgggcaatgga	12	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6220577C>T	uc010qzz.1	+	1	124	c.124C>T	c.(124-126)CTG>TTG	p.L42L		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		CATTTATCTGCTGGCCCTGCT	0.557													T	6220577	C	T	6220577	2	4	235	1	0	0	0	0	0	0	0	1	11132	796	28	2		2	OR52W1	11	6220577	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	534277	6220577	128785939	833	118426											
CCKBR	887	broad.mit.edu	37	chr11	6292284	6292284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggcctgagactggcgcGgttggcgaagacagcgatgg	18	10	0	2	rs149197660		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6292284G>A	uc001mcp.2	+	5	1048	c.855G>A	c.(853-855)GCG>GCA	p.A285A	CCKBR_uc001mcq.2_Silent_p.A213A|CCKBR_uc001mcr.2_Silent_p.A285A|CCKBR_uc001mcs.2_Silent_p.A354A|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	285	Cytoplasmic (Potential).				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			lung(5)|ovary(2)|breast(1)	8		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)	AGACTGGCGCGGTTGGCGAAG	0.677													A	6292284	G	A	6292284	2	1	235	1	0	0	0	0	0	0	0	1	2881	1103	39	1		1	CCKBR	11	6292284	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	71707	6292284	128714232	834	118427											
RRP8	23378	broad.mit.edu	37	chr11	6622581	6622581	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgccatgcgggctcGcaaagcccctgcccgagcct	12	18	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6622581G>A	uc001med.2	-	3	794	c.715C>T	c.(715-717)CGA>TGA	p.R239*	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	239					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						ATGCGGGCTCGCAAAGCCCCT	0.627													A	6622581	G	A	6622581	4	1	235	1	0	0	0	0	0	1	0	0	13690	1095	38	1	675	1	RRP8	11	6622581	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	330297	6622581	128383935	835	118428											
ILK	3611	broad.mit.edu	37	chr11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-													aatgaaccgtggggatgacaCccccctgcatctggcagcca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6629391_6629391AC>A	uc001mee.3	+	2	340	c.205_205AC>A	c.(205-207)accfs	p.T69fs	ILK_uc001mef.3_Frame_Shift_Del_p.T69fs|ILK_uc010rap.2_Intron|ILK_uc010raq.2_Frame_Shift_Del_p.T69fs|ILK_uc001meh.3_Frame_Shift_Del_p.T69fs	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	69	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGGGGATGACACCCCCCTGCA	0.562													-	6629392	C	-	6629392	7	5	235	1	0	1	0	1	0	0	0	0	7713	507	18	0	212	0	ILK	11	6629392	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	6811	6629392	128377124	836	118429											
TPP1	1200	broad.mit.edu	37	chr11	6636199	6636199	+	Frame_Shift_Del	DEL	C	C	-													tcattgatcaaggataggatCcccccaaacactggagtaga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6636199delC	uc001mel.1	-	12	1510	c.1449delG	c.(1447-1449)GGGfs	p.G483fs	TAF10_uc001mej.1_5'Flank|TPP1_uc001mek.1_Frame_Shift_Del_p.G240fs	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	483					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				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGGATAGGATCCCCCCAAACA	0.517													-	6636199	C	-	6636199	7	5	235	1	0	1	0	1	0	0	0	0	16408	842	30	0	250	0	TPP1	11	6636199	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	6807	6636199	128370317	837	118430											
TPP1	1200	broad.mit.edu	37	chr11	6637718	6637718	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccactgcaggaagggctcCtgtccctcatgccggcctgg	13	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6637718C>A	uc001mel.1	-	8	964	c.903G>T	c.(901-903)CAG>CAT	p.Q301H	TPP1_uc001mek.1_Missense_Mutation_p.Q58H	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	301					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				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GGAAGGGCTCCTGTCCCTCAT	0.507													A	6637718	C	A	6637718	3	1	235	1	0	0	0	0	1	0	0	0	16408	680	24	5	812	5	TPP1	11	6637718	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1519	6637718	128368798	838	118431											
DCHS1	8642	broad.mit.edu	37	chr11	6654124	6654125	+	Frame_Shift_Ins	INS	-	-	G													cccgagctacagcgaaagctINSgggggcactccactgcctgc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6654124_6654125insG	uc001mem.1	-	6	3028_3029	c.2618_2619insC	c.(2617-2619)CCAfs	p.P873fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	873	Cadherin 8.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCGAAAGCTGGGGGCACTCC	0.579													G	6654125	-	G	6654124	7	5	235	1	0	1	1	0	0	0	0	0	4287	1567	55	0	7341	0	DCHS1	11	6654124	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	16406	6654124	128352392	839	118432	587	2									
DCHS1	8642	broad.mit.edu	37	chr11	6654125	6654126	+	Frame_Shift_Ins	INS	-	-	G													ccgagctacagcgaaagctgINSggggcactccactgcctgct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:6654124_6654125T>TG	uc001mem.1	-	5	3019_3020	c.2618_2619A>CA	c.(2617-2619)ccafs	p.P873fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	873	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)		CAGCGAAAGCTGGGGGCACTCC	0.579													G	6654126	-	G	6654125	7	5	235	1	0	1	1	0	0	0	0	0	4287	1348	47	0	7342	0	DCHS1	11	6654125	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	6654125	128352391	840	118433	587	2									
NLRP10	338322	broad.mit.edu	37	chr11	7982663	7982663	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagcacaactaaggatgGggccagtgagggcttttccc	13	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:7982663G>C	uc001mfv.1	-	2	513	c.496C>G	c.(496-498)CCA>GCA	p.P166A		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	166							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTAAGGATGGGGCCAGTGAG	0.582													C	7982663	G	C	7982663	3	2	235	1	0	0	0	0	1	0	0	0	10472	1232	43	5	1475	5	NLRP10	11	7982663	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1328538	7982663	127023853	841	118434											
TMEM41B	440026	broad.mit.edu	37	chr11	9308018	9308018	+	Frame_Shift_Del	DEL	A	A	-													ttacctagaaaagtaccaatAaaaaaaactttcaatggcac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:9308017_9308017TA>T	uc001mhm.3	-	5	1018	c.691_691TA>A	c.(691-693)attfs	p.I231fs	TMEM41B_uc001mhn.2_Frame_Shift_Del_p.I231fs	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	231						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)		AAAGTACCAATAAAAAAAACT	0.363													-	9308018	A	-	9308018	7	5	235	1	0	1	0	1	0	0	0	0	16162	359	13	0	193	0	TMEM41B	11	9308018	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1325355	9308018	125698498	842	118435											
ABCC8	6833	broad.mit.edu	37	chr11	17482133	17482133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtcggccaagatgcggaAagtgctgctgaggaccaggc	16	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:17482133A>G	uc001mnc.2	-	6	1039	c.913T>C	c.(913-915)TTC>CTC	p.F305L	ABCC8_uc010rcy.1_Missense_Mutation_p.F304L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	305	Cytoplasmic (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGATGCGGAAAGTGCTGCTG	0.637													G	17482133	A	G	17482133	3	3	235	1	0	0	0	0	1	0	0	0	58	14	1	3	3968	3	ABCC8	11	17482133	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	8174115	17482133	117524383	843	118436											
HPS5	11234	broad.mit.edu	37	chr11	18303557	18303557	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaacttctctgacaacTcaagggccagaccacattcc	7	13	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18303557T>G	uc001mod.1	-	22	3547	c.3269A>C	c.(3268-3270)GAG>GCG	p.E1090A	HPS5_uc001moe.1_Missense_Mutation_p.E976A|HPS5_uc001mof.1_Missense_Mutation_p.E976A	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	1090						cytosol				ovary(1)|pancreas(1)|skin(1)	3						CTCTGACAACTCAAGGGCCAG	0.507									Hermansky-Pudlak_syndrome				G	18303557	T	G	18303557	3	3	235	1	0	0	0	0	1	0	0	0	7342	1551	54	5	128	5	HPS5	11	18303557	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	821424	18303557	116702959	844	118437											
TSG101	7251	broad.mit.edu	37	chr11	18531130	18531130	+	Missense_Mutation	SNP	G	G	A													ggtatggcggataggatgccGaaataggacgagagaagact					rs140156278		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18531130G>A	uc001mor.2	-	5	566	c.440C>T	c.(439-441)TCG>TTG	p.S147L	TSG101_uc001mos.1_Missense_Mutation_p.S95L|TSG101_uc009yhs.1_RNA	NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	147					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						ATAGGATGCCGAAATAGGACG	0.398													A	18531130	G	A	18531130	3	1	235	1	0	0	0	0	1	0	0	0	16613	1059	37	1	756	1	TSG101	11	18531130	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	227573	18531130	116475386	845	118438	588	2									
TSG101	7251	broad.mit.edu	37	chr11	18531132	18531132	+	Silent	SNP	A	A	T													tatggcggataggatgccgaAataggacgagagaagactgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18531132A>T	uc001mor.2	-	5	564	c.438T>A	c.(436-438)ATT>ATA	p.I146I	TSG101_uc001mos.1_Silent_p.I94I|TSG101_uc009yhs.1_RNA	NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	146					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						AGGATGCCGAAATAGGACGAG	0.398													T	18531132	A	T	18531132	2	4	235	1	0	0	0	0	0	0	0	1	16613	10	1	5		5	TSG101	11	18531132	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2	18531132	116475384	846	118439	588	2									
IGSF22	283284	broad.mit.edu	37	chr11	18731162	18731162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccctctgcaggctcccGccaggccagggaaatgctgg	13	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18731162G>A	uc009yht.2	-	18	2960	c.2770C>T	c.(2770-2772)CGG>TGG	p.R924W	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	823	Fibronectin type-III 2.									ovary(4)|large_intestine(2)|kidney(1)	7						GCAGGCTCCCGCCAGGCCAGG	0.577													A	18731162	G	A	18731162	3	1	235	1	0	0	0	0	1	0	0	0	7600	1086	38	1	1234	1	IGSF22	11	18731162	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	200030	18731162	116275354	847	118440											
IGSF22	283284	broad.mit.edu	37	chr11	18736102	18736102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgtcattcagcactacaCacaactcagctgggctccca	6	16	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18736102C>T	uc009yht.2	-	12	1791	c.1601G>A	c.(1600-1602)TGT>TAT	p.C534Y	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	534										ovary(4)|large_intestine(2)|kidney(1)	7						CAGCACTACACACAACTCAGC	0.617													T	18736102	C	T	18736102	3	4	235	1	0	0	0	0	1	0	0	0	7600	478	17	4	2427	4	IGSF22	11	18736102	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4940	18736102	116270414	848	118441											
PTPN5	84867	broad.mit.edu	37	chr11	18763909	18763909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagtctcgggcaccgggtCgaggtccaggaagtcatcct	15	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:18763909C>T	uc001mpd.2	-	7	1056	c.625G>A	c.(625-627)GAC>AAC	p.D209N	PTPN5_uc001mpb.2_Missense_Mutation_p.D177N|PTPN5_uc001mpc.2_Missense_Mutation_p.D209N|PTPN5_uc001mpe.2_Missense_Mutation_p.D177N|PTPN5_uc010rdj.1_Missense_Mutation_p.D153N|PTPN5_uc001mpf.2_Missense_Mutation_p.D185N|PTPN5_uc010rdk.1_Missense_Mutation_p.D154N	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	209						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGCACCGGGTCGAGGTCCAGG	0.597													T	18763909	C	T	18763909	3	4	235	1	0	0	0	0	1	0	0	0	12791	884	31	1	1108	1	PTPN5	11	18763909	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	27807	18763909	116242607	849	118442											
ANO3	63982	broad.mit.edu	37	chr11	26558959	26558959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctttgcaggtatccGtaaacttataaacaatggct	6	9	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:26558959G>A	uc001mqt.3	+	10	1128	c.983G>A	c.(982-984)CGT>CAT	p.R328H	ANO3_uc010rdr.1_Missense_Mutation_p.R312H|ANO3_uc010rds.1_Missense_Mutation_p.R167H|ANO3_uc010rdt.1_Missense_Mutation_p.R182H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	328	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity	p.R328H(1)		ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAGGTATCCGTAAACTTATA	0.353													A	26558959	G	A	26558959	3	1	235	1	0	0	0	0	1	0	0	0	698	1145	40	1	1021	1	ANO3	11	26558959	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7795050	26558959	108447557	850	118443											
C11orf41	25758	broad.mit.edu	37	chr11	33628318	33628319	+	Frame_Shift_Ins	INS	-	-	C													cacagccctccccatggtgcINScccccacctcggacaggagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:33628317_33628318G>GC	uc021qfs.1	+	12	4243_4244	c.4119_4120G>GC	c.(4117-4122)gtgcccfs	p.V1373fs		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1373						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TCCCCATGGTGCCCCCCACCTC	0.589													C	33628319	-	C	33628318	7	5	235	1	0	1	1	0	0	0	0	0	1640	739	26	0	4188	0	C11orf41	11	33628318	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	7069359	33628318	101378198	851	118444											
SYT13	57586	broad.mit.edu	37	chr11	45277422	45277422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggggctgaacaggttcCgtggactttttaacattgaa	12	8	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:45277422C>T	uc001myq.2	-	2	330	c.204G>A	c.(202-204)ACG>ACA	p.T68T	SYT13_uc009yku.1_5'UTR	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	68	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						GAACAGGTTCCGTGGACTTTT	0.502													T	45277422	C	T	45277422	2	4	235	1	0	0	0	0	0	0	0	1	15466	639	23	1		1	SYT13	11	45277422	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	11649104	45277422	89729094	852	118445											
HARBI1	283254	broad.mit.edu	37	chr11	46625304	46625304	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgcccccttggatcCatccaggcagcggaatcggg	13	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:46625304C>A	uc001ncy.2	-	3	1074	c.826G>T	c.(826-828)GGA>TGA	p.G276*		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	276						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CCCTTGGATCCATCCAGGCAG	0.517													A	46625304	C	A	46625304	4	1	235	1	0	0	0	0	0	1	0	0	6958	603	21	5	227	5	HARBI1	11	46625304	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1347882	46625304	88381212	853	118446											
CKAP5	9793	broad.mit.edu	37	chr11	46799029	46799029	+	Frame_Shift_Del	DEL	T	T	-													tgatgatagggatgcctaaaTtttttacatgttgcttaata							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:46799029delT	uc001ndi.1	-	23	2932	c.2822delA	c.(2821-2823)AATfs	p.N941fs	CKAP5_uc009ylg.1_Frame_Shift_Del_p.N827fs|CKAP5_uc001ndj.1_Frame_Shift_Del_p.N941fs	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	941	HEAT 6.				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|protein binding			ovary(1)|skin(1)	2						GATGCCTAAATTTTTTACATG	0.433													-	46799029	T	-	46799029	7	5	235	1	0	1	0	1	0	0	0	0	3445	1493	52	0	3364	0	CKAP5	11	46799029	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	173725	46799029	88207487	854	118447											
PTPRJ	5795	broad.mit.edu	37	chr11	48171665	48171665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatctaagttaatcagagTggagaattttgaggcctact	10	5	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:48171665T>C	uc001ngp.3	+	18	3423	c.3068T>C	c.(3067-3069)GTG>GCG	p.V1023A		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1023	Cytoplasmic (Potential).				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)|kidney(3)|ovary(1)|skin(1)	8						TTAATCAGAGTGGAGAATTTT	0.328													C	48171665	T	C	48171665	3	2	235	1	0	0	0	0	1	0	0	0	12804	1696	59	3	3147	3	PTPRJ	11	48171665	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1372636	48171665	86834851	855	118448											
SPRYD5	84767	broad.mit.edu	37	chr11	55653152	55653152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccagaaaagccagcctccGgcaattccttagctctgagg	10	13	1	2	rs139676401	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:55653152G>T	uc010rip.1	+	2	340	c.248G>T	c.(247-249)CGG>CTG	p.R83L	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	83						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GCCAGCCTCCGGCAATTCCTT	0.488													T	55653152	G	T	55653152	3	4	235	1	0	0	0	0	1	0	0	0	15110	1116	39	5	250	5	SPRYD5	11	55653152	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	7481487	55653152	79353364	856	118449											
OR5T3	390154	broad.mit.edu	37	chr11	56019846	56019847	+	Frame_Shift_Ins	INS	-	-	T													ttgagctgcaagtcttcctaINStttttactattttttgcaat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:56019846_56019847insT	uc010rjd.1	+	1	171_172	c.171_172insT	c.(169-174)CTATTTfs	p.L57fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	57_58	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					AAGTCTTCCTATTTTTACTATT	0.391													T	56019847	-	T	56019846	7	5	235	1	0	1	1	0	0	0	0	0	11183	436	16	0	173	0	OR5T3	11	56019846	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	366694	56019846	78986670	857	118450	589	2									
OR5T3	390154	broad.mit.edu	37	chr11	56019847	56019848	+	Frame_Shift_Ins	INS	-	-	T													tgagctgcaagtcttcctatINSttttactattttttgcaatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:56019846_56019847A>AT	uc010rjd.2	+	0	171_172	c.171_172A>AT	c.(169-174)ctatttfs	p.L57fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	57					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)					AAGTCTTCCTATTTTTACTATT	0.391													T	56019848	-	T	56019847	7	5	235	1	0	1	1	0	0	0	0	0	11183	1493	52	0	174	0	OR5T3	11	56019847	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	56019847	78986669	858	118451	589	2									
SMTNL1	219537	broad.mit.edu	37	chr11	57313808	57313808	+	Frame_Shift_Del	DEL	A	A	-													gagtggtgccgagccatgacAaaaaaatacgaggtgggcat					rs80069448		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:57313808delA	uc009ymh.1	+	6	1230	c.1230delA	c.(1228-1230)ACAfs	p.T410fs		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	392										ovary(1)	1						GAGCCATGACAAAAAAATACG	0.622													-	57313808	A	-	57313808	7	5	235	1	0	1	0	1	0	0	0	0	14815	117	5	0	1252	0	SMTNL1	11	57313808	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1293961	57313808	77692708	859	118452											
OR10Q1	219960	broad.mit.edu	37	chr11	57995911	57995911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccacccagcatctgcGtgcacagctcgcgggtcatg	13	16	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:57995911G>A	uc010rkd.1	-	1	437	c.437C>T	c.(436-438)ACG>ATG	p.T146M		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				CAGCATCTGCGTGCACAGCTC	0.617													A	57995911	G	A	57995911	3	1	235	1	0	0	0	0	1	0	0	0	10916	1145	40	1	526	1	OR10Q1	11	57995911	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	682103	57995911	77010605	860	118453											
CCDC86	79080	broad.mit.edu	37	chr11	60610001	60610001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaccagggagtactggCctcggagttggcccagaata	14	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:60610001C>A	uc001nqa.2	+	1	573	c.404C>A	c.(403-405)GCC>GAC	p.A135D	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	135	Pro-rich.				interspecies interaction between organisms	nucleus					0						GGAGTACTGGCCTCGGAGTTG	0.612													A	60610001	C	A	60610001	3	1	235	1	0	0	0	0	1	0	0	0	2861	739	26	5	406	5	CCDC86	11	60610001	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2614090	60610001	74396515	861	118454											
CD6	923	broad.mit.edu	37	chr11	60785823	60785823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtaccagaacttccagCcaccaccccagcccccttcg	7	19	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:60785823C>T	uc001nqq.2	+	12	2123	c.1900C>T	c.(1900-1902)CCA>TCA	p.P634S	CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_Intron|CD6_uc001nqt.2_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	634	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						GAACTTCCAGCCACCACCCCA	0.622													T	60785823	C	T	60785823	3	4	235	1	0	0	0	0	1	0	0	0	3028	739	26	2	1946	2	CD6	11	60785823	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	175822	60785823	74220693	862	118455											
B3GAT3	26229	broad.mit.edu	37	chr11	62388038	62388038	+	Frame_Shift_Del	DEL	G	G	-													cagggggctgggcaggggcaGggggtggccgtcggagttcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:62388038delG	uc001ntw.2	-	2	217	c.188delC	c.(187-189)CCTfs	p.P63fs	B3GAT3_uc009ynz.2_Frame_Shift_Del_p.P56fs|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Frame_Shift_Del_p.P63fs	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	63	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						GGCAGGGGCAGGGGGTGGCCG	0.632													-	62388038	G	-	62388038	7	5	235	1	0	1	0	1	0	0	0	0	1255	1000	35	0	835	0	B3GAT3	11	62388038	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1602215	62388038	72618478	863	118456											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455516	62455516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccccggcctcgttagcGgccactacgcaaacgacata	9	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:62455516G>A	uc001nun.2	-	2	772	c.465C>T	c.(463-465)GCC>GCT	p.A155A		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	155	Fibronectin type-III.|Extracellular (Potential).					integral to membrane					0						CCTCGTTAGCGGCCACTACGC	0.697													A	62455516	G	A	62455516	2	1	235	1	0	0	0	0	0	0	0	1	9038	1103	39	1		1	LRRN4CL	11	62455516	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	67478	62455516	72551000	864	118457											
BSCL2	26580	broad.mit.edu	37	chr11	62458808	62458808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacacccactgcatgtagcTgaagagcacgatgacgctga	10	13	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:62458808T>C	uc001nuo.1	-	7	1181	c.757A>G	c.(757-759)AGC>GGC	p.S253G	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Intron|BSCL2_uc001nup.2_Missense_Mutation_p.S253G|BSCL2_uc001nuq.1_Missense_Mutation_p.S253G|BSCL2_uc001nur.3_Missense_Mutation_p.S317G|BSCL2_uc009yod.2_Missense_Mutation_p.S317G|BSCL2_uc001nut.3_Missense_Mutation_p.S317G|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	253	Helical; (Potential).				cell death	integral to endoplasmic reticulum membrane					0						TGCATGTAGCTGAAGAGCACG	0.552													C	62458808	T	C	62458808	3	2	235	1	0	0	0	0	1	0	0	0	1527	1580	55	3	459	3	BSCL2	11	62458808	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3292	62458808	72547708	865	118458											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	235	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-F1-6177-01A-11D-1800-08	961242	63420050	71586466	866	118459											
SLC22A12	116085	broad.mit.edu	37	chr11	64359056	64359056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgaactcctggacctcGtgggtggcctgggcaggttc	14	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64359056G>A	uc001oam.1	+	1	775	c.28G>A	c.(28-30)GTG>ATG	p.V10M	SLC22A12_uc009ypr.1_Missense_Mutation_p.V10M|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Missense_Mutation_p.V10M|SLC22A12_uc001oan.1_Missense_Mutation_p.V10M|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	10	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CCTGGACCTCGTGGGTGGCCT	0.597													A	64359056	G	A	64359056	3	1	235	1	0	0	0	0	1	0	0	0	14443	1145	40	1	30	1	SLC22A12	11	64359056	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	939006	64359056	70647460	867	118460											
NRXN2	9379	broad.mit.edu	37	chr11	64397948	64397948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcttcgagtgaagcgcAccacgtggtatttgccgtcg	13	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64397948A>G	uc001oap.2	-	4	1056	c.545T>C	c.(544-546)GTG>GCG	p.V182A	NRXN2_uc001oar.2_Missense_Mutation_p.V1228A|NRXN2_uc001oas.2_Missense_Mutation_p.V1188A|NRXN2_uc001oaq.2_Missense_Mutation_p.V895A	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	182	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						AGTGAAGCGCACCACGTGGTA	0.557													G	64397948	A	G	64397948	3	3	235	1	0	0	0	0	1	0	0	0	10666	159	6	3	1475	3	NRXN2	11	64397948	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	38892	64397948	70608568	868	118461											
NRXN2	9379	broad.mit.edu	37	chr11	64410059	64410059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggttgatggcgatgggcaCggtgccgtgcttgctgtgga	19	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64410059C>T	uc001oap.2	-	2	728	c.217G>A	c.(217-219)GTG>ATG	p.V73M	NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	73	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GCGATGGGCACGGTGCCGTGC	0.662													T	64410059	C	T	64410059	3	4	235	1	0	0	0	0	1	0	0	0	10666	536	19	1	1811	1	NRXN2	11	64410059	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	12111	64410059	70596457	869	118462											
RASGRP2	10235	broad.mit.edu	37	chr11	64509498	64509498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatatgtggagcagcttggCcgccagctgagaggagggga	17	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64509498C>T	uc009ypu.2	-	3	387	c.160G>A	c.(160-162)GCC>ACC	p.A54T	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'Flank|RASGRP2_uc009ypv.2_Missense_Mutation_p.A54T|RASGRP2_uc009ypw.2_Missense_Mutation_p.A54T|RASGRP2_uc001oaw.1_3'UTR	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	54	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						AGCAGCTTGGCCGCCAGCTGA	0.657													T	64509498	C	T	64509498	3	4	235	1	0	0	0	0	1	0	0	0	13075	739	26	2	1725	2	RASGRP2	11	64509498	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	99439	64509498	70497018	870	118463											
CDC42BPG	55561	broad.mit.edu	37	chr11	64591974	64591974	+	Frame_Shift_Del	DEL	G	G	-													gctctccaattcaggggataGggggaggcttcggggccgtt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64591973_64591973AG>A	uc001obs.4	-	36	4628	c.4628_4628CT>T	c.(4627-4629)ctafs	p.L1543fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1543					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						TTCAGGGGATAGGGGGAGGCT	0.562													-	64591974	G	-	64591974	7	5	235	1	0	1	0	1	0	0	0	0	3074	991	35	0	32	0	CDC42BPG	11	64591974	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	82476	64591974	70414542	871	118464											
CAPN1	823	broad.mit.edu	37	chr11	64972271	64972271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccttatgcagaagcaccGtcgccgcgagcgccgcttcg	12	17	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:64972271G>A	uc009yqd.1	+	11	1394	c.1283G>A	c.(1282-1284)CGT>CAT	p.R428H	CAPN1_uc001odf.1_Missense_Mutation_p.R428H|CAPN1_uc001odg.1_Missense_Mutation_p.R428H|CAPN1_uc010roa.1_Missense_Mutation_p.R169H	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	428	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CAGAAGCACCGTCGCCGCGAG	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	64972271	G	A	64972271	3	1	235	1	0	0	0	0	1	0	0	0	2622	1145	40	1	1321	1	CAPN1	11	64972271	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	380297	64972271	70034245	872	118465											
RELA	5970	broad.mit.edu	37	chr11	65422046	65422046	+	Frame_Shift_Del	DEL	G	G	-													cagcatgggctcagttgtgtGgggggccacaggtatgccct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:65422045_65422045TG>T	uc010ron.2	-	10	1633	c.1493_1493CA>A	c.(1492-1494)cacfs	p.H498fs	RELA_uc001off.3_Intron|RELA_uc001ofh.3_Frame_Shift_Del_p.H484fs|RELA_uc001ofg.3_Frame_Shift_Del_p.H487fs|RELA_uc021qlq.1_Frame_Shift_Del_p.H418fs|RELA_uc009yqr.3_Frame_Shift_Del_p.H434fs|RELA_uc001ofe.2_3'UTR	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	487					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|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|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.E498K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCAC	0.622													-	65422046	G	-	65422046	7	5	235	1	0	1	0	1	0	0	0	0	13216	1348	47	0	200	0	RELA	11	65422046	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	449775	65422046	69584470	873	118466											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65546371	65546371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagagcttcatccctgccCggcctggacaccaccacctg	8	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:65546371C>T	uc001ofo.3	-	1	1452	c.1422G>A	c.(1420-1422)CCG>CCA	p.P474P		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	474							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CATCCCTGCCCGGCCTGGACA	0.607													T	65546371	C	T	65546371	2	4	235	1	0	0	0	0	0	0	0	1	4543	639	23	1		1	DKFZp761E198	11	65546371	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	124325	65546371	69460145	874	118467											
RIN1	9610	broad.mit.edu	37	chr11	66103453	66103453	+	Frame_Shift_Del	DEL	G	G	-													gtggggcaagactcacccccGggggctcggtcctcagcatg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:66103453delG	uc001ohn.1	-	2	390	c.263delC	c.(262-264)CCGfs	p.P88fs	RIN1_uc010roy.1_5'Flank|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Intron|RIN1_uc010rpa.1_Intron	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	88	SH2.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						ACTCACCCCCGGGGGCTCGGT	0.692													-	66103453	G	-	66103453	7	5	235	1	0	1	0	1	0	0	0	0	13371	1116	39	0	2124	0	RIN1	11	66103453	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	557082	66103453	68903063	875	118468											
RBM14	10432	broad.mit.edu	37	chr11	66391987	66391987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccttctttggtcgcgacCgcagccctctgcgccgttca	9	18	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:66391987C>T	uc001oit.2	+	2	779	c.640C>T	c.(640-642)CGC>TGC	p.R214C	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	214					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			ovary(2)|central_nervous_system(1)	3						TGGTCGCGACCGCAGCCCTCT	0.642													T	66391987	C	T	66391987	3	4	235	1	0	0	0	0	1	0	0	0	13115	652	23	1	646	1	RBM14	11	66391987	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	288534	66391987	68614529	876	118469											
CARNS1	57571	broad.mit.edu	37	chr11	67192057	67192057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccctgttgcccacttcctGtctcacttcaaatagcactg	5	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:67192057G>A	uc009yrp.2	+	9	2921	c.2469G>A	c.(2467-2469)CTG>CTA	p.L823L	CARNS1_uc001olc.3_Silent_p.L962L	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	823					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CCCACTTCCTGTCTCACTTCA	0.667													A	67192057	G	A	67192057	2	1	235	1	0	0	0	0	0	0	0	1	2656	1364	48	4		4	CARNS1	11	67192057	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	800070	67192057	67814459	877	118470											
PITPNM1	9600	broad.mit.edu	37	chr11	67260427	67260427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgcgcctgtagcttcCgcacggcacggcccacgatg	13	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:67260427C>T	uc001olx.2	-	22	3638	c.3449G>A	c.(3448-3450)CGG>CAG	p.R1150Q	PITPNM1_uc001olw.2_Missense_Mutation_p.R432Q|PITPNM1_uc001oly.2_Missense_Mutation_p.R1150Q|PITPNM1_uc001olz.2_Missense_Mutation_p.R1149Q	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1150					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			lung(2)|central_nervous_system(1)	3						CTGTAGCTTCCGCACGGCACG	0.657													T	67260427	C	T	67260427	3	4	235	1	0	0	0	0	1	0	0	0	11950	652	23	1	293	1	PITPNM1	11	67260427	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	68370	67260427	67746089	878	118471											
SUV420H1	51111	broad.mit.edu	37	chr11	67925165	67925165	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagagcttaggcattaAgccttaaagactgatcttct	8	9	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:67925165A>C	uc001onm.1	-	11	2904	c.2648T>G	c.(2647-2649)CTT>CGT	p.L883R	SUV420H1_uc009yse.1_Missense_Mutation_p.L469R|SUV420H1_uc001onn.1_Missense_Mutation_p.L711R|SUV420H1_uc009ysf.2_Missense_Mutation_p.L643R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TTAGGCATTAAGCCTTAAAGA	0.368													C	67925165	A	C	67925165	3	2	235	1	0	0	0	0	1	0	0	0	15411	72	3	5	13	5	SUV420H1	11	67925165	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	664738	67925165	67081351	879	118472											
MRGPRD	116512	broad.mit.edu	37	chr11	68748126	68748126	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaggctcaggcccacTgtgtaggcaaagtacatcag	12	11	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:68748126T>C	uc010rqf.1	-	1	330	c.330A>G	c.(328-330)ACA>ACG	p.T110T		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	110	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAGGCCCACTGTGTAGGCAA	0.582													C	68748126	T	C	68748126	2	2	235	1	0	0	0	0	0	0	0	1	9763	1567	55	3		3	MRGPRD	11	68748126	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	822961	68748126	66258390	880	118473											
MYEOV	26579	broad.mit.edu	37	chr11	69063147	69063147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaagccggcagatcccGgggccgcctctgtctctccc	10	19	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:69063147G>A	uc001oov.2	+	3	680	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R77Q|MYEOV_uc001oow.2_Missense_Mutation_p.R19Q	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	77											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGCAGATCCCGGGGCCGCCTC	0.612													A	69063147	G	A	69063147	3	1	235	1	0	0	0	0	1	0	0	0	10025	1116	39	1	236	1	MYEOV	11	69063147	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	315021	69063147	65943369	881	118474											
CCND1	595	broad.mit.edu	37	chr11	69456219	69456219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggtgtcctacttcaaAtgtgtgcagaaggaggtcct	11	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:69456219A>G	uc001opa.2	+	1	347	c.138A>G	c.(136-138)AAA>AAG	p.K46K		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	46	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			ovary(1)|lung(1)	2	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)	CCTACTTCAAATGTGTGCAGA	0.647			T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)			G	69456219	A	G	69456219	2	3	235	1	0	0	0	0	0	0	0	1	2916	98	4	3		3	CCND1	11	69456219	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	393072	69456219	65550297	882	118475											
NADSYN1	55191	broad.mit.edu	37	chr11	71193957	71193957	+	Frame_Shift_Del	DEL	C	C	-													tcagctacaccccccaggatCcccgagacctctgtggacgc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:71193957delC	uc001oqn.2	+	14	1339	c.1213delC	c.(1213-1215)CCCfs	p.P405fs	NADSYN1_uc001oqo.2_Frame_Shift_Del_p.P145fs|NADSYN1_uc001oqp.2_Frame_Shift_Del_p.P34fs	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	405	Ligase (By similarity).				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			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCCCAGGATCCCCGAGACCT	0.587													-	71193957	C	-	71193957	7	5	235	1	0	1	0	1	0	0	0	0	10138	855	30	0	1267	0	NADSYN1	11	71193957	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1737738	71193957	63812559	883	118476											
NUMA1	4926	broad.mit.edu	37	chr11	71726294	71726294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagctcctttcgttccCgcttatgctgctccaccagg	7	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:71726294C>T	uc001orl.1	-	15	2427	c.2255G>A	c.(2254-2256)CGG>CAG	p.R752Q	NUMA1_uc009ysw.1_Missense_Mutation_p.R315Q|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R752Q|NUMA1_uc001orn.2_Missense_Mutation_p.R315Q|NUMA1_uc009ysx.1_Missense_Mutation_p.R752Q|NUMA1_uc001oro.1_Missense_Mutation_p.R752Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	752	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CTTTCGTTCCCGCTTATGCTG	0.602			T	RARA	APL								T	71726294	C	T	71726294	3	4	235	1	0	0	0	0	1	0	0	0	10750	652	23	1	4144	1	NUMA1	11	71726294	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	532337	71726294	63280222	884	118477											
INPPL1	3636	broad.mit.edu	37	chr11	71948327	71948327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgtcccatctgccacCaagaacaaagtggccattac	7	16	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:71948327C>T	uc001osf.2	+	26	3186	c.3039C>T	c.(3037-3039)ACC>ACT	p.T1013T	INPPL1_uc001osg.2_Silent_p.T771T	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1013	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CATCTGCCACCAAGAACAAAG	0.627													T	71948327	C	T	71948327	2	4	235	1	0	0	0	0	0	0	0	1	7761	581	21	4		4	INPPL1	11	71948327	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	222033	71948327	63058189	885	118478											
PLEKHB1	58473	broad.mit.edu	37	chr11	73364059	73364059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggcaaactccaccccGgtgagtctcccgttctctcc	9	17	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:73364059G>A	uc001oua.2	+	5	821	c.390G>A	c.(388-390)CCG>CCA	p.P130P	PLEKHB1_uc001oub.2_Silent_p.P130P|PLEKHB1_uc010rrh.1_Silent_p.P111P|PLEKHB1_uc001ouc.2_Silent_p.P111P|PLEKHB1_uc001oud.2_Silent_p.P111P|PLEKHB1_uc009ytq.2_Silent_p.P111P	NM_021200	NP_067023	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B	130					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			ovary(1)|lung(1)	2						ACTCCACCCCGGTGAGTCTCC	0.577													A	73364059	G	A	73364059	2	1	235	1	0	0	0	0	0	0	0	1	12064	1130	39	1		1	PLEKHB1	11	73364059	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1415732	73364059	61642457	886	118479											
MOGAT2	80168	broad.mit.edu	37	chr11	75438572	75438572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggagcctttgccaacctGtgcactgagagcacaggctt	12	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:75438572G>A	uc010rru.1	+	3	363	c.363G>A	c.(361-363)CTG>CTA	p.L121L	MOGAT2_uc001oww.1_Silent_p.L121L|MOGAT2_uc010rrv.1_Silent_p.L39L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	121	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					TTGCCAACCTGTGCACTGAGA	0.592													A	75438572	G	A	75438572	2	1	235	1	0	0	0	0	0	0	0	1	9695	1364	48	4		4	MOGAT2	11	75438572	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2074513	75438572	59567944	887	118480											
WNT11	7481	broad.mit.edu	37	chr11	75902892	75902892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcatttccagagaggcGcgcagagcctgcggacaggg	14	12	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:75902892G>A	uc001oxe.2	-	4	729	c.606C>T	c.(604-606)CGC>CGT	p.R202R	WNT11_uc001oxf.1_Silent_p.R202R	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	202					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						CCAGAGAGGCGCGCAGAGCCT	0.672													A	75902892	G	A	75902892	2	1	235	1	0	0	0	0	0	0	0	1	17381	1074	38	1		1	WNT11	11	75902892	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	464320	75902892	59103624	888	118481											
OMP	4975	broad.mit.edu	37	chr11	76814001	76814001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagcgcggggagaagcGccaggatggggagaagctgc	20	8	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:76814001G>A	uc010rsk.1	+	1	116	c.116G>A	c.(115-117)CGC>CAC	p.R39H	CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	olfactory marker protein	39					sensory perception of smell|synaptic transmission						0						GGGGAGAAGCGCCAGGATGGG	0.662													A	76814001	G	A	76814001	3	1	235	1	0	0	0	0	1	0	0	0	10867	1087	38	1	118	1	OMP	11	76814001	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	911109	76814001	58192515	889	118482											
ODZ4	26011	broad.mit.edu	37	chr11	78412977	78412977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgttcttccggataaaccGaattcggatgttcccaaggt	9	10	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:78412977G>A	uc001ozl.3	-	28	5144	c.4681C>T	c.(4681-4683)CGG>TGG	p.R1561W	ODZ4_uc009yvb.1_Missense_Mutation_p.R145W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1561	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CGGATAAACCGAATTCGGATG	0.493													A	78412977	G	A	78412977	3	1	235	1	0	0	0	0	1	0	0	0	10837	1057	37	1	3656	1	ODZ4	11	78412977	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1598976	78412977	56593539	890	118483											
RAB30	27314	broad.mit.edu	37	chr11	82693314	82693314	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcttcactgatgagtcGgcatgctaagtcaaggaaga	12	8	3	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:82693314G>A	uc001ozu.2	-	6	766	c.505C>T	c.(505-507)CGA>TGA	p.R169*	RAB30_uc009yve.2_Nonsense_Mutation_p.R167*|RAB30_uc010rst.1_Nonsense_Mutation_p.R167*|RAB30_uc001ozv.2_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	169					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity				0						CTGATGAGTCGGCATGCTAAG	0.438													A	82693314	G	A	82693314	4	1	235	1	0	0	0	0	0	1	0	0	12919	1124	39	1	110	1	RAB30	11	82693314	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4280337	82693314	52313202	891	118484											
DLG2	1740	broad.mit.edu	37	chr11	83544674	83544674	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccgataggatctggtctcCtctctggagctccccactta	8	15	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:83544674C>A	uc001paj.2	-	12	1693	c.1390G>T	c.(1390-1392)GGA>TGA	p.G464*	DLG2_uc001pai.2_Nonsense_Mutation_p.G361*|DLG2_uc010rsy.1_Nonsense_Mutation_p.G431*|DLG2_uc010rsz.1_Nonsense_Mutation_p.G464*|DLG2_uc010rta.1_Nonsense_Mutation_p.G464*|DLG2_uc001pak.2_Nonsense_Mutation_p.G569*|DLG2_uc010rtb.1_Nonsense_Mutation_p.G431*|DLG2_uc001pal.1_Nonsense_Mutation_p.G464*|DLG2_uc001pam.1_Nonsense_Mutation_p.G503*	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	464	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATCTGGTCTCCTCTCTGGAGC	0.443													A	83544674	C	A	83544674	4	1	235	1	0	0	0	0	0	1	0	0	4555	690	24	5	1320	5	DLG2	11	83544674	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	851360	83544674	51461842	892	118485											
EED	8726	broad.mit.edu	37	chr11	85979585	85979585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgtgtgcgatggttaggCgatttgatactttctaaggt	13	4	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:85979585C>T	uc001pbp.2	+	9	1405	c.948C>T	c.(946-948)GGC>GGT	p.G316G	EED_uc010rtm.1_Silent_p.G316G|EED_uc001pbq.2_Silent_p.G316G|EED_uc001pbr.2_Silent_p.G316G|EED_uc001pbs.2_Intron|EED_uc010rtn.1_Intron	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	316	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GATGGTTAGGCGATTTGATAC	0.299													T	85979585	C	T	85979585	2	4	235	1	0	0	0	0	0	0	0	1	4922	755	27	1		1	EED	11	85979585	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2434911	85979585	49026931	893	118486											
FAT3	120114	broad.mit.edu	37	chr11	92532189	92532189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acataaccaaagttgctattGtcaatgcagttggaaatcgc	8	8	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92532189G>A	uc001pdj.3	+	9	6027	c.6010G>A	c.(6010-6012)GTC>ATC	p.V2004I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2004	Extracellular (Potential).|Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTGCTATTGTCAATGCAGT	0.408										TCGA Ovarian(4;0.039)			A	92532189	G	A	92532189	3	1	235	1	0	0	0	0	1	0	0	0	5691	1377	48	4	6044	4	FAT3	11	92532189	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6552604	92532189	42474327	894	118487											
FAT3	120114	broad.mit.edu	37	chr11	92599971	92599971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctggaatcttgggcatctCgggccgtgctgtcaacgacg	13	13	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92599971C>T	uc001pdj.3	+	21	11740	c.11723C>T	c.(11722-11724)TCG>TTG	p.S3908L	FAT3_uc001pdi.3_Missense_Mutation_p.S348L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3908	Laminin G-like.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGGGCATCTCGGGCCGTGCT	0.607										TCGA Ovarian(4;0.039)			T	92599971	C	T	92599971	3	4	235	1	0	0	0	0	1	0	0	0	5691	893	31	1	11805	1	FAT3	11	92599971	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	67782	92599971	42406545	895	118488											
FAT3	120114	broad.mit.edu	37	chr11	92600059	92600059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccctggatgacagctaCgtggagcggcgccgggcgcc	16	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92600059C>T	uc001pdj.3	+	21	11828	c.11811C>T	c.(11809-11811)TAC>TAT	p.Y3937Y	FAT3_uc001pdi.3_Silent_p.Y377Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3937	Laminin G-like.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGACAGCTACGTGGAGCGGC	0.622										TCGA Ovarian(4;0.039)			T	92600059	C	T	92600059	2	4	235	1	0	0	0	0	0	0	0	1	5691	547	19	1		1	FAT3	11	92600059	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	88	92600059	42406457	896	118489											
FAT3	120114	broad.mit.edu	37	chr11	92600371	92600371	+	Frame_Shift_Del	DEL	G	G	-													agctgcactggcctgccatcGgggggtgagtgtggctacgc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92600371delG	uc001pdj.3	+	21	12140	c.12123delG	c.(12121-12123)TCGfs	p.S4041fs	FAT3_uc001pdi.3_Frame_Shift_Del_p.S481fs	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4041	EGF-like 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCTGCCATCGGGGGGTGAGT	0.667										TCGA Ovarian(4;0.039)			-	92600371	G	-	92600371	7	5	235	1	0	1	0	1	0	0	0	0	5691	1103	39	0	12205	0	FAT3	11	92600371	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	312	92600371	42406145	897	118490											
MTNR1B	4544	broad.mit.edu	37	chr11	92714707	92714707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcttctatgacggctgGgccctgggggaggagcactg	16	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:92714707G>A	uc001pdk.1	+	2	421	c.318G>A	c.(316-318)TGG>TGA	p.W106*		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	106	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	ATGACGGCTGGGCCCTGGGGG	0.567													A	92714707	G	A	92714707	4	1	235	1	0	0	0	0	0	1	0	0	9952	1241	43	4	324	4	MTNR1B	11	92714707	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	114336	92714707	42291809	898	118491											
AMOTL1	154810	broad.mit.edu	37	chr11	94554713	94554713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcccatgccaacttcCgttcccatcaaccatgcagc	6	19	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:94554713C>T	uc001pfb.2	+	4	1309	c.1139C>T	c.(1138-1140)CCG>CTG	p.P380L	AMOTL1_uc001pfc.2_Missense_Mutation_p.P330L	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	380						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGCCAACTTCCGTTCCCATCA	0.607													T	94554713	C	T	94554713	3	4	235	1	0	0	0	0	1	0	0	0	583	652	23	1	1153	1	AMOTL1	11	94554713	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1840006	94554713	40451803	899	118492											
MTMR2	8898	broad.mit.edu	37	chr11	95580917	95580917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtagattccaagttagaCaaccagtgggtttcctcaat	9	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:95580917C>A	uc001pfu.2	-	10	1393	c.1140G>T	c.(1138-1140)TTG>TTT	p.L380F	MTMR2_uc001pfv.2_Missense_Mutation_p.L308F|MTMR2_uc001pfs.2_Missense_Mutation_p.L308F|MTMR2_uc001pft.2_Missense_Mutation_p.L308F|MTMR2_uc010ruj.1_Missense_Mutation_p.L363F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	380	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAAGTTAGACAACCAGTGGG	0.373													A	95580917	C	A	95580917	3	1	235	1	0	0	0	0	1	0	0	0	9944	477	17	5	815	5	MTMR2	11	95580917	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1026204	95580917	39425599	900	118493											
KBTBD3	143879	broad.mit.edu	37	chr11	105923985	105923985	+	Frame_Shift_Del	DEL	A	A	-													tcagttgtagcattgtatttAaaaaagcaatcaagtgatgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:105923984_105923984TA>T	uc001pja.3	-	3	2072	c.1432_1432TA>A	c.(1432-1434)aaafs	p.K478fs	KBTBD3_uc001pjb.3_Frame_Shift_Del_p.K478fs|KBTBD3_uc009yxm.3_Frame_Shift_Del_p.K399fs	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	474										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)		GCATTGTATTTAAAAAAGCAA	0.353													-	105923985	A	-	105923985	7	5	235	1	0	1	0	1	0	0	0	0	7994	359	13	0	411	0	KBTBD3	11	105923985	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	10343068	105923985	29082531	901	118494											
CWF19L2	143884	broad.mit.edu	37	chr11	107224389	107224389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcctcttcaccaagaCgttctctctcagctgctttg	5	15	5	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:107224389C>T	uc010rvp.1	-	13	1976	c.1946G>A	c.(1945-1947)CGT>CAT	p.R649H	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	649	Potential.						catalytic activity				0		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)		TTCACCAAGACGTTCTCTCTC	0.398													T	107224389	C	T	107224389	3	4	235	1	0	0	0	0	1	0	0	0	4072	536	19	1	762	1	CWF19L2	11	107224389	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1300404	107224389	27782127	902	118495											
ZC3H12C	85463	broad.mit.edu	37	chr11	110036179	110036179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgacgcctatgggtaccGgcagacttattccttgcccg	11	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:110036179G>A	uc009yxw.2	+	6	2420	c.2369G>A	c.(2368-2370)CGG>CAG	p.R790Q	ZC3H12C_uc010rwc.1_Missense_Mutation_p.R791Q|ZC3H12C_uc010rwd.1_Missense_Mutation_p.R791Q|ZC3H12C_uc001pkr.3_Missense_Mutation_p.R759Q	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	790							endonuclease activity|nucleic acid binding|zinc ion binding				0		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)		TATGGGTACCGGCAGACTTAT	0.567													A	110036179	G	A	110036179	3	1	235	1	0	0	0	0	1	0	0	0	17560	1116	39	1	2391	1	ZC3H12C	11	110036179	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2811790	110036179	24970337	903	118496											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450446	110450446	+	Frame_Shift_Del	DEL	G	G	-													ctggaacaccagaagcatgtGggggtggctctaagggtcct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:110450445_110450445TG>T	uc001pkz.1	-	15	3510	c.3225_3225CA>A	c.(3223-3225)ccafs	p.P1075fs	ARHGAP20_uc001pky.1_Frame_Shift_Del_p.P1052fs|ARHGAP20_uc009yyb.1_Frame_Shift_Del_p.P1039fs|ARHGAP20_uc001pla.1_Frame_Shift_Del_p.P1039fs|ARHGAP20_uc001plb.2_Frame_Shift_Del_p.P618fs	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	1075					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)		CAGAAGCATGTGGGGGTGGCT	0.502													-	110450446	G	-	110450446	7	5	235	1	0	1	0	1	0	0	0	0	870	1348	47	0	355	0	ARHGAP20	11	110450446	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	414267	110450446	24556070	904	118497											
SIK2	23235	broad.mit.edu	37	chr11	111594685	111594685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtatcctgtggatggAgcccagcagagcgacctaac	12	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:111594685A>G	uc001plt.2	+	15	2731	c.2613A>G	c.(2611-2613)GGA>GGG	p.G871G		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	871					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CTGTGGATGGAGCCCAGCAGA	0.617													G	111594685	A	G	111594685	2	3	235	1	0	0	0	0	0	0	0	1	14318	291	11	3		3	SIK2	11	111594685	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1144239	111594685	23411831	905	118498											
DIXDC1	85458	broad.mit.edu	37	chr11	111855970	111855970	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaggccttactgctcaaTggatccttacctgaagatga	8	10	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:111855970T>C	uc001pml.2	+	9	1230	c.933T>C	c.(931-933)AAT>AAC	p.N311N	DIXDC1_uc001pmm.2_Silent_p.N100N|DIXDC1_uc001pmn.2_Silent_p.N17N	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	311	Potential.				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			ovary(1)	1		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)		TACTGCTCAATGGATCCTTAC	0.473													C	111855970	T	C	111855970	2	2	235	1	0	0	0	0	0	0	0	1	4541	1461	51	3		3	DIXDC1	11	111855970	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	261285	111855970	23150546	906	118499											
DLAT	1737	broad.mit.edu	37	chr11	111904183	111904183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcacagttcagagatgggAaaaaaaagtgggtgagaagc	16	4	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:111904183A>G	uc001pmo.2	+	5	1375	c.716A>G	c.(715-717)GAA>GGA	p.E239G	DLAT_uc009yyk.1_Intron|DLAT_uc010rwr.1_Intron	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	239	Lipoyl-binding 2.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		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)	CAGAGATGGGAAAAAAAAGTG	0.433													G	111904183	A	G	111904183	3	3	235	1	0	0	0	0	1	0	0	0	4549	246	9	3	734	3	DLAT	11	111904183	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	48213	111904183	23102333	907	118500											
USP28	57646	broad.mit.edu	37	chr11	113673924	113673924	+	Frame_Shift_Del	DEL	C	C	-													agcaatcacggattctttgaCcccccggcggggccccttca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:113673924delC	uc001poh.2	-	23	2851	c.2818delG	c.(2818-2820)GTCfs	p.V940fs	USP28_uc001pog.2_Frame_Shift_Del_p.V616fs|USP28_uc010rwy.1_Frame_Shift_Del_p.V783fs|USP28_uc001poi.2_Frame_Shift_Del_p.V263fs	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	940					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			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		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)		GATTCTTTGACCCCCCGGCGG	0.458													-	113673924	C	-	113673924	7	5	235	1	0	1	0	1	0	0	0	0	17055	507	18	0	427	0	USP28	11	113673924	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1769741	113673924	21332592	908	118501											
SIDT2	51092	broad.mit.edu	37	chr11	117059506	117059506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactacgacacattgacCgacatcgattccgacaagaa	8	11	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:117059506C>T	uc001pqh.1	+	13	1283	c.1242C>T	c.(1240-1242)ACC>ACT	p.T414T	SIDT2_uc010rxe.1_Silent_p.T414T|SIDT2_uc001pqg.2_Silent_p.T435T|SIDT2_uc001pqi.1_Silent_p.T411T	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	414	Cytoplasmic (Potential).					integral to membrane|lysosomal membrane					0	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)		ACACATTGACCGACATCGATT	0.587													T	117059506	C	T	117059506	2	4	235	1	0	0	0	0	0	0	0	1	14303	639	23	1		1	SIDT2	11	117059506	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3385582	117059506	17947010	909	118502											
MLL	4297	broad.mit.edu	37	chr11	118344530	118344530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagaaaaggagaataagCgggagtcaaggaaagagaaa	15	2	1	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:118344530C>T	uc001pta.2	+	3	2679	c.2656C>T	c.(2656-2658)CGG>TGG	p.R886W	MLL_uc001ptb.2_Missense_Mutation_p.R886W|MLL_uc001psz.1_Missense_Mutation_p.R919W|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	886					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ggagaataagcgggagtcaag	0.284			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118344530	C	T	118344530	3	4	235	1	0	0	0	0	1	0	0	0	9620	759	27	1	2666	1	MLL	11	118344530	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1285024	118344530	16661986	910	118503											
PHLDB1	23187	broad.mit.edu	37	chr11	118527419	118527419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccagccctcaccttctgCgtaaagacccatgaccggct	7	17	2	2	rs148039830		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:118527419C>T	uc001ptr.1	+	24	4373	c.4020C>T	c.(4018-4020)TGC>TGT	p.C1340C	PHLDB1_uc001pts.2_Silent_p.C1340C|PHLDB1_uc001ptt.2_Silent_p.C1282C|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.C1144C|PHLDB1_uc001ptw.1_Silent_p.C684C|PHLDB1_uc009zai.1_Silent_p.C365C|PHLDB1_uc001ptx.1_Silent_p.C365C	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1340	PH.										0	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)		TCACCTTCTGCGTAAAGACCC	0.567													T	118527419	C	T	118527419	2	4	235	1	0	0	0	0	0	0	0	1	11851	776	27	1		1	PHLDB1	11	118527419	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	182889	118527419	16479097	911	118504											
ABCG4	64137	broad.mit.edu	37	chr11	119031362	119031362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcctatctctcctatGtcaggtcagtacccctgccc	8	16	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:119031362G>A	uc001pvs.2	+	14	2047	c.1711G>A	c.(1711-1713)GTC>ATC	p.V571I	ABCG4_uc009zar.2_Missense_Mutation_p.V571I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	571	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	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)		TCTCTCCTATGTCAGGTCAGT	0.592													A	119031362	G	A	119031362	3	1	235	1	0	0	0	0	1	0	0	0	70	1377	48	4	1761	4	ABCG4	11	119031362	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	503943	119031362	15975154	912	118505											
MCAM	4162	broad.mit.edu	37	chr11	119182355	119182356	+	Frame_Shift_Ins	INS	-	-	G													ctccttgaatgccatccaagINSgggggccttggggaggtagg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:119182354_119182355A>AG	uc001pwf.3	-	10	1321_1322	c.1292_1293T>CT	c.(1291-1293)cctfs	p.P431fs	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	431	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGCCATCCAAGGGGGGCCTTG	0.609													G	119182356	-	G	119182355	7	5	235	1	0	1	1	0	0	0	0	0	9368	1000	35	0	672	0	MCAM	11	119182355	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	150993	119182355	15824161	913	118506											
RNF26	79102	broad.mit.edu	37	chr11	119207088	119207088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctaccaccgcaattgccCgctctgccgccggggcatcc	10	19	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:119207088C>T	uc001pwh.2	+	1	1852	c.1256C>T	c.(1255-1257)CCG>CTG	p.P419L		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	419	RING-type.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CGCAATTGCCCGCTCTGCCGC	0.637													T	119207088	C	T	119207088	3	4	235	1	0	0	0	0	1	0	0	0	13486	652	23	1	1258	1	RNF26	11	119207088	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	24733	119207088	15799428	914	118507											
TRIM29	23650	broad.mit.edu	37	chr11	120008518	120008518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgatgggtcgccgccaCtcattgcccgcgaacagggc	14	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:120008518C>T	uc001pwz.2	-	1	346	c.222G>A	c.(220-222)GAG>GAA	p.E74E	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	74					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTCGCCGCCACTCATTGCCCG	0.632													T	120008518	C	T	120008518	2	4	235	1	0	0	0	0	0	0	0	1	16500	564	20	4		4	TRIM29	11	120008518	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	801430	120008518	14997998	915	118508											
TECTA	7007	broad.mit.edu	37	chr11	120998774	120998774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcagcggggaggtgtgCgccgtggaggacggctacca	20	10	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:120998774C>T	uc010rzo.1	+	8	2088	c.2088C>T	c.(2086-2088)TGC>TGT	p.C696C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	696					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		GGGAGGTGTGCGCCGTGGAGG	0.652													T	120998774	C	T	120998774	2	4	235	1	0	0	0	0	0	0	0	1	15744	776	27	1		1	TECTA	11	120998774	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	990256	120998774	14007742	916	118509											
SORL1	6653	broad.mit.edu	37	chr11	121393406	121393406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccaggcctcatcatcGccactggtaagtgtgcttgc	11	14	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:121393406G>A	uc001pxx.2	+	10	1596	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	506	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		CCTCATCATCGCCACTGGTAA	0.572													A	121393406	G	A	121393406	3	1	235	1	0	0	0	0	1	0	0	0	14934	1087	38	1	1554	1	SORL1	11	121393406	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	394632	121393406	13613110	917	118510											
OR10G7	390265	broad.mit.edu	37	chr11	123909320	123909320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtcatcatgttggtgtacCtgagcgggtaactgatggcc	13	9	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:123909320C>A	uc001pzq.1	-	1	389	c.389G>T	c.(388-390)AGG>ATG	p.R130M		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		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)		GTTGGTGTACCTGAGCGGGTA	0.552													A	123909320	C	A	123909320	3	1	235	1	0	0	0	0	1	0	0	0	10902	681	24	5	550	5	OR10G7	11	123909320	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2515914	123909320	11097196	918	118511											
KIRREL3	84623	broad.mit.edu	37	chr11	126333072	126333072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggatgtcaatggtgaccGacgtctcctttcctccgggg	13	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:126333072G>A	uc001qea.2	-	6	1083	c.722C>T	c.(721-723)TCG>TTG	p.S241L	KIRREL3_uc001qeb.2_Missense_Mutation_p.S241L|KIRREL3_uc001qec.1_Missense_Mutation_p.S241L	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	241	Ig-like C2-type 2.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	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)		AATGGTGACCGACGTCTCCTT	0.617													A	126333072	G	A	126333072	3	1	235	1	0	0	0	0	1	0	0	0	8326	1059	37	1	1769	1	KIRREL3	11	126333072	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2423752	126333072	8673444	919	118512											
APLP2	334	broad.mit.edu	37	chr11	129980502	129980502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagtattgacaactggtgcCggagggacaaaaagcaatgc	12	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:129980502C>T	uc010sby.1	+	3	506	c.349C>T	c.(349-351)CGG>TGG	p.R117W	APLP2_uc001qfp.2_Missense_Mutation_p.R117W|APLP2_uc001qfq.2_Missense_Mutation_p.R117W|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Intron|APLP2_uc001qfs.2_Missense_Mutation_p.R117W|APLP2_uc001qfv.2_Missense_Mutation_p.R64W	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	117	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		CAACTGGTGCCGGAGGGACAA	0.453													T	129980502	C	T	129980502	3	4	235	1	0	0	0	0	1	0	0	0	779	643	23	1	359	1	APLP2	11	129980502	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3647430	129980502	5026014	920	118513											
GLB1L2	89944	broad.mit.edu	37	chr11	134234257	134234257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgcagtcaacacacgagCtgcagctactgaccaccttt	7	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:134234257C>T	uc001qhp.2	+	8	957	c.769C>T	c.(769-771)CTG>TTG	p.L257L	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	257					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		AACACACGAGCTGCAGCTACT	0.552													T	134234257	C	T	134234257	2	4	235	1	0	0	0	0	0	0	0	1	6429	796	28	2		2	GLB1L2	11	134234257	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4253755	134234257	772259	921	118514											
B3GAT1	27087	broad.mit.edu	37	chr11	134257541	134257541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgatcgctaggatgtcccGtctcttcggcatctccaagg	11	13	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr11:134257541G>A	uc001qhq.2	-	3	274	c.13C>T	c.(13-15)CGG>TGG	p.R5W	B3GAT1_uc001qhr.2_Missense_Mutation_p.R5W|B3GAT1_uc010scv.1_Missense_Mutation_p.R18W	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	5	Cytoplasmic (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	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)		AGGATGTCCCGTCTCTTCGGC	0.642													A	134257541	G	A	134257541	3	1	235	1	0	0	0	0	1	0	0	0	1253	1144	40	1	1007	1	B3GAT1	11	134257541	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	23284	134257541	748975	922	118515											
WNT5B	81029	broad.mit.edu	37	chr12	1748958	1748958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcggctgcagccggaCggcgcggcccaaggacctgc	15	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:1748958C>T	uc009zdq.2	+	4	679	c.437C>T	c.(436-438)ACG>ATG	p.T146M	WNT5B_uc001qjj.2_Missense_Mutation_p.T146M|WNT5B_uc001qjk.2_Missense_Mutation_p.T146M|WNT5B_uc001qjl.2_Missense_Mutation_p.T146M	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	146					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)			TGCAGCCGGACGGCGCGGCCC	0.726													T	1748958	C	T	1748958	3	4	235	1	0	0	0	0	1	0	0	0	17389	536	19	1	447	1	WNT5B	12	1748958	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		1748958	132102937	923	118516											
ADIPOR2	79602	broad.mit.edu	37	chr12	1893046	1893046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttcttgtgactcctagGagtgtttttgggcctaggcc	11	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:1893046G>A	uc001qjm.2	+	7	1036	c.839G>A	c.(838-840)GGA>GAA	p.G280E	ADIPOR2_uc001qjn.2_Missense_Mutation_p.G280E	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	280	Helical; Name=5; (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TGACTCCTAGGAGTGTTTTTG	0.463													A	1893046	G	A	1893046	3	1	235	1	0	0	0	0	1	0	0	0	319	1188	41	4	861	4	ADIPOR2	12	1893046	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	144088	1893046	131958849	924	118517											
FGF23	8074	broad.mit.edu	37	chr12	4479543	4479543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggggcggcagccttccGggcccgttcccccagcgtgc	15	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:4479543G>A	uc001qmq.1	-	3	868	c.722C>T	c.(721-723)CCG>CTG	p.P241L		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	241					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCAGCCTTCCGGGCCCGTTCC	0.647													A	4479543	G	A	4479543	3	1	235	1	0	0	0	0	1	0	0	0	5852	1116	39	1	37	1	FGF23	12	4479543	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2586497	4479543	129372352	925	118518											
RAD51AP1	10635	broad.mit.edu	37	chr12	4662161	4662161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttaggtgaagattctgAggatgattctgatttttgtg	12	2	2	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:4662161A>G	uc001qmw.2	+	8	776	c.620A>G	c.(619-621)GAG>GGG	p.E207G	RAD51AP1_uc001qmu.2_Missense_Mutation_p.E190G|RAD51AP1_uc001qmv.2_Missense_Mutation_p.E153G|RAD51AP1_uc010sep.1_Missense_Mutation_p.E72G|RAD51AP1_uc010seq.1_Missense_Mutation_p.E72G|RAD51AP1_uc009zeg.2_RNA	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	207					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GAAGATTCTGAGGATGATTCT	0.313													G	4662161	A	G	4662161	3	3	235	1	0	0	0	0	1	0	0	0	12986	304	11	3	650	3	RAD51AP1	12	4662161	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	182618	4662161	129189734	926	118519											
ZNF384	171017	broad.mit.edu	37	chr12	6777207	6777207	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggccactgctgccgcTgctgctgctgcctgcacctg	13	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:6777207T>C	uc010sfh.1	-	11	1615	c.1407A>G	c.(1405-1407)GCA>GCG	p.A469A	ZNF384_uc001qpz.2_Silent_p.A408A|ZNF384_uc001qqa.2_Silent_p.A408A|ZNF384_uc001qqb.2_Silent_p.A392A|ZNF384_uc001qqc.2_Silent_p.A408A|ZNF384_uc001qqd.2_Silent_p.A353A|ZNF384_uc001qqe.2_Silent_p.A392A	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	469	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						ctgctgccgctgctgctgctg	0.189			T	EWSR1|TAF15 	ALL								C	6777207	T	C	6777207	2	2	235	1	0	0	0	0	0	0	0	1	17872	1567	55	3		3	ZNF384	12	6777207	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	2115046	6777207	127074688	927	118520											
EMG1	10436	broad.mit.edu	37	chr12	7084957	7084958	+	Frame_Shift_Ins	INS	-	-	G													cacagcctttgaggaagtatINSggggggtcatttgacagtag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7084957_7084958insG	uc001qsh.3	+	8	864_865	c.721_722insG	c.(721-723)TGGfs	p.W241fs	EMG1_uc009zfo.2_RNA|EMG1_uc010sfv.1_Intron	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	241					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						TGAGGAAGTATGGGGGGTCATT	0.475													G	7084958	-	G	7084957	7	5	235	1	0	1	1	0	0	0	0	0	5090	1464	51	0	742	0	EMG1	12	7084957	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	307750	7084957	126766938	928	118521	590	2									
EMG1	10436	broad.mit.edu	37	chr12	7084958	7084959	+	Frame_Shift_Ins	INS	-	-	G													acagcctttgaggaagtatgINSgggggtcatttgacagtagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7084957_7084958T>TG	uc001qsh.4	+	6	861_862	c.718_719T>TG	c.(718-720)tggfs	p.W240fs	EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Intron	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	241					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TGAGGAAGTATGGGGGGTCATT	0.475													G	7084959	-	G	7084958	7	5	235	1	0	1	1	0	0	0	0	0	5090	1357	47	0	743	0	EMG1	12	7084958	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	7084958	126766937	929	118522	590	2									
LPCAT3	10162	broad.mit.edu	37	chr12	7086569	7086569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggcagaaggcagtcAtggagtaacccatgaagagc	14	7	1	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7086569A>G	uc001qsi.2	-	11	1421	c.1307T>C	c.(1306-1308)ATG>ACG	p.M436T	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.M330T|LPCAT3_uc009zfp.2_RNA	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	436	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1						GAAGGCAGTCATGGAGTAACC	0.542													G	7086569	A	G	7086569	3	3	235	1	0	0	0	0	1	0	0	0	8912	217	8	3	164	3	LPCAT3	12	7086569	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1611	7086569	126765326	930	118523											
C1R	715	broad.mit.edu	37	chr12	7242710	7242710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatggtcccattctcctcGttggagaagtctgtgtggaa	12	8	2	2	rs150953301	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:7242710G>A	uc010sfy.1	-	3	425	c.366C>T	c.(364-366)AAC>AAT	p.N122N	C1R_uc010sfz.1_Silent_p.N136N|C1R_uc010sga.1_Silent_p.N88N	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	122	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					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)	CATTCTCCTCGTTGGAGAAGT	0.552													A	7242710	G	A	7242710	2	1	235	1	0	0	0	0	0	0	0	1	1972	1136	40	1		1	C1R	12	7242710	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	156141	7242710	126609185	931	118524											
FOXJ2	55810	broad.mit.edu	37	chr12	8200544	8200544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtatcagcagcagcagcCaccgccacctcaacagcagc	8	17	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:8200544C>A	uc001qtu.2	+	7	1969	c.884C>A	c.(883-885)CCA>CAA	p.P295Q	FOXJ2_uc001qtt.1_Missense_Mutation_p.P295Q	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	295	Poly-Pro.				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 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			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		cagcagcagccaccgccacct	0.458													A	8200544	C	A	8200544	3	1	235	1	0	0	0	0	1	0	0	0	6012	594	21	5	906	5	FOXJ2	12	8200544	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	957834	8200544	125651351	932	118525											
A2ML1	144568	broad.mit.edu	37	chr12	9004599	9004599	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaattacctaaaggaTtgcatcagggtgagagctgg	11	7	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:9004599T>C	uc001quz.3	+	19	2552	c.2454T>C	c.(2452-2454)GAT>GAC	p.D818D	A2ML1_uc001qva.1_Silent_p.D398D|A2ML1_uc010sgm.1_Silent_p.D318D	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	662						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ACCTAAAGGATTGCATCAGGG	0.478													C	9004599	T	C	9004599	2	2	235	1	0	0	0	0	0	0	0	1	5	1490	52	3		3	A2ML1	12	9004599	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	804055	9004599	124847296	933	118526											
CSDA	8531	broad.mit.edu	37	chr12	10854623	10854623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtaattgtagggacgcCggtatccacggcgaacagac	14	11	0	1	rs144824557		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:10854623C>T	uc001qyt.2	-	8	1232	c.989G>A	c.(988-990)CGG>CAG	p.R330Q	CSDA_uc001qyu.2_Missense_Mutation_p.R261Q	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	330					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					GTAGGGACGCCGGTATCCACG	0.572													T	10854623	C	T	10854623	3	4	235	1	0	0	0	0	1	0	0	0	3927	652	23	1	137	1	CSDA	12	10854623	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1850024	10854623	122997272	934	118527											
TAS2R10	50839	broad.mit.edu	37	chr12	10978282	10978282	+	Frame_Shift_Del	DEL	A	A	-													gtctccaaagggaaatgattAaaaaaatacatgtaattagg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:10978281_10978281TA>T	uc001qyy.1	-	0	588	c.588_588TA>A	c.(586-588)ttafs	p.L196fs		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	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						GGGAAATGATTAAAAAAATAC	0.343													-	10978282	A	-	10978282	7	5	235	1	0	1	0	1	0	0	0	0	15563	372	13	0	340	0	TAS2R10	12	10978282	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	123659	10978282	122873613	935	118528											
PLEKHA5	54477	broad.mit.edu	37	chr12	19427533	19427533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaattaaaccagagaTccaaaacaatcaaaaaaaca	4	8	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:19427533T>C	uc001reb.2	+	10	997	c.911T>C	c.(910-912)ATC>ACC	p.I304T	PLEKHA5_uc010sie.1_Missense_Mutation_p.I310T|PLEKHA5_uc001rea.2_Missense_Mutation_p.I304T|PLEKHA5_uc009zin.2_Missense_Mutation_p.I62T|PLEKHA5_uc010sif.1_Missense_Mutation_p.I196T|PLEKHA5_uc010sig.1_Missense_Mutation_p.I196T|PLEKHA5_uc010sih.1_Missense_Mutation_p.I196T|PLEKHA5_uc001rec.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	304							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAACCAGAGATCCAAAACAAT	0.343													C	19427533	T	C	19427533	3	2	235	1	0	0	0	0	1	0	0	0	12059	1435	50	3	949	3	PLEKHA5	12	19427533	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	8449251	19427533	114424362	936	118529											
RECQL	5965	broad.mit.edu	37	chr12	21644542	21644542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctttattttctttgtcAggactttttttttctgaata	5	6	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:21644542A>G	uc001rex.2	-	4	473	c.125T>C	c.(124-126)CTG>CCG	p.L42P	RECQL_uc001rey.2_Missense_Mutation_p.L42P	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	42					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TTTCTTTGTCAGGACTTTTTT	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					G	21644542	A	G	21644542	3	3	235	1	0	0	0	0	1	0	0	0	13201	188	7	3	1876	3	RECQL	12	21644542	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2217009	21644542	112207353	937	118530											
KCNJ8	3764	broad.mit.edu	37	chr12	21926431	21926431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccaggttgcaggccccGctcttggcgatgaagcgggc	16	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:21926431G>A	uc001rff.2	-	2	458	c.120C>T	c.(118-120)AGC>AGT	p.S40S		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	40	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	TGCAGGCCCCGCTCTTGGCGA	0.622											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21926431	G	A	21926431	2	1	235	1	0	0	0	0	0	0	0	1	8056	1078	38	1		1	KCNJ8	12	21926431	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	281889	21926431	111925464	938	118531											
ITPR2	3709	broad.mit.edu	37	chr12	26749969	26749969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggctaaggggccactctcAtcccctcggtctctctctga	9	15	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:26749969A>G	uc001rhg.2	-	31	4518	c.4101T>C	c.(4099-4101)GAT>GAC	p.D1367D		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1367	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GGCCACTCTCATCCCCTCGGT	0.463													G	26749969	A	G	26749969	2	3	235	1	0	0	0	0	0	0	0	1	7921	214	8	3		3	ITPR2	12	26749969	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	4823538	26749969	107101926	939	118532											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27113510	27113510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatctcgacacatcctTgaagcacctcaacatggact	7	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:27113510T>C	uc001rhm.2	+	5	801	c.459T>C	c.(457-459)CTT>CTC	p.L153L	FGFR1OP2_uc001rhl.2_Silent_p.L153L|FGFR1OP2_uc001rhn.2_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	153						cytoplasm					0	Colorectal(261;0.0847)					GACACATCCTTGAAGCACCTC	0.423													C	27113510	T	C	27113510	2	2	235	1	0	0	0	0	0	0	0	1	5865	1799	63	3		3	FGFR1OP2	12	27113510	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	363541	27113510	106738385	940	118533											
PPFIBP1	8496	broad.mit.edu	37	chr12	27824371	27824371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aattacattacagttccataCtaccatcttgcaagtttcca	3	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:27824371C>G	uc001ric.1	+	14	1582	c.1205C>G	c.(1204-1206)ACT>AGT	p.T402S	PPFIBP1_uc010sjr.1_Missense_Mutation_p.T233S|PPFIBP1_uc001rib.1_Missense_Mutation_p.T385S|PPFIBP1_uc001ria.2_Missense_Mutation_p.T371S|PPFIBP1_uc001rid.1_Missense_Mutation_p.T249S	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	402	Potential.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					CAGTTCCATACTACCATCTTG	0.323													G	27824371	C	G	27824371	3	3	235	1	0	0	0	0	1	0	0	0	12313	565	20	5	1242	5	PPFIBP1	12	27824371	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	710861	27824371	106027524	941	118534											
C12orf40	283461	broad.mit.edu	37	chr12	40020151	40020151	+	Frame_Shift_Del	DEL	G	G	-													ttgggaagatgaattgggtcGgggggtcccggtaagttgtg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:40020151delG	uc001rmc.2	+	1	180	c.13delG	c.(13-15)GGGfs	p.G5fs	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	5										ovary(6)	6						GAATTGGGTCGGGGGGTCCCG	0.542													-	40020151	G	-	40020151	7	5	235	1	0	1	0	1	0	0	0	0	1686	1116	39	0	15	0	C12orf40	12	40020151	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	12195780	40020151	93831744	942	118535											
LRRK2	120892	broad.mit.edu	37	chr12	40728880	40728880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccaagggttccttggatCgcctgcttcagcaggacaaa	10	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:40728880C>T	uc001rmg.3	+	40	5990	c.5869C>T	c.(5869-5871)CGC>TGC	p.R1957C	LRRK2_uc009zjw.2_Missense_Mutation_p.R795C|LRRK2_uc001rmi.2_Missense_Mutation_p.R790C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1957	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.R1957C(1)|p.R1964C(1)		ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCTTGGATCGCCTGCTTCA	0.527													T	40728880	C	T	40728880	3	4	235	1	0	0	0	0	1	0	0	0	9033	884	31	1	6027	1	LRRK2	12	40728880	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	708729	40728880	93123015	943	118536											
ZCRB1	85437	broad.mit.edu	37	chr12	42706971	42706972	+	Frame_Shift_Ins	INS	-	-	T													ctcctgaactgggtttccatINStttttttgttcttcttcaat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:42706970_42706971A>AT	uc001rmz.3	-	7	761_762	c.552_553T>AT	c.(550-555)aaatggfs	p.K184fs		NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	Homo sapiens zinc finger CCHC-type and RNA binding motif 1 (ZCRB1), mRNA.	184					mRNA processing	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide 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)		CTGGGTTTCCATTTTTTTTGTT	0.327													T	42706972	-	T	42706971	7	5	235	1	0	1	1	0	0	0	0	0	17593	1490	52	0	105	0	ZCRB1	12	42706971	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1978091	42706971	91144924	944	118537											
TWF1	5756	broad.mit.edu	37	chr12	44193205	44193205	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtagttgtaacttacctcaTtgattttaatctgtcgtagt	7	6	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:44193205T>A	uc001rob.2	-	5	609	c.581A>T	c.(580-582)AAT>ATT	p.N194I	TWF1_uc001rnz.2_Missense_Mutation_p.N62I|TWF1_uc001roa.2_Missense_Mutation_p.N194I|TWF1_uc001roc.2_Missense_Mutation_p.N62I	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	160						actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		ACTTACCTCATTGATTTTAAT	0.338													A	44193205	T	A	44193205	3	1	235	1	0	0	0	0	1	0	0	0	16778	1493	52	5	593	5	TWF1	12	44193205	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1486234	44193205	89658690	945	118538											
ARID2	196528	broad.mit.edu	37	chr12	46215264	46215264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaagactgatagagacttCgttaaggtaaatcattttaa	9	4	1	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:46215264C>T	uc001ros.1	+	6	699	c.699C>T	c.(697-699)TTC>TTT	p.F233F	ARID2_uc001ror.2_Silent_p.F233F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	233					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		ATAGAGACTTCGTTAAGGTAA	0.284													T	46215264	C	T	46215264	2	4	235	1	0	0	0	0	0	0	0	1	915	883	31	1		1	ARID2	12	46215264	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2022059	46215264	87636631	946	118539											
VDR	7421	broad.mit.edu	37	chr12	48272749	48272749	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcctgggaggagggctcAcctgaagaagcctttgcagc	15	10	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48272749A>G	uc001rqm.2	-	4	428	c.146_splice	c.e4+1	p.R49_splice	VDR_uc001rql.2_Splice_Site_p.R99_splice|VDR_uc001rqn.2_Splice_Site_p.R49_splice|VDR_uc010slq.1_5'UTR	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor						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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)	AGGAGGGCTCACCTGAAGAAG	0.552													G	48272749	A	G	48272749	5	3	235	1	0	0	0	0	0	0	1	0	17146	173	6	3	1167	3	VDR	12	48272749	Splice_Site	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2057485	48272749	85579146	947	118540											
COL2A1	1280	broad.mit.edu	37	chr12	48380862	48380862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcactttgggctcttaccGtctgacctttcgggcccaga	11	13	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48380862G>A	uc001rqu.2	-	21	1545	c.1364C>T	c.(1363-1365)ACG>ATG	p.T455M	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T386M	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	455	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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGCTCTTACCGTCTGACCTTT	0.632													A	48380862	G	A	48380862	3	1	235	1	0	0	0	0	1	0	0	0	3687	1159	40	1	3235	1	COL2A1	12	48380862	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	108113	48380862	85471033	948	118541											
COL2A1	1280	broad.mit.edu	37	chr12	48391482	48391483	+	Frame_Shift_Ins	INS	-	-	G													catctctgccacgaggtccaINSggggcacccttggcataaag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48391482_48391483insG	uc001rqu.2	-	7	618_619	c.437_438insC	c.(436-438)CCTfs	p.P146fs	COL2A1_uc001rqv.2_Frame_Shift_Ins_p.P77fs	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	146					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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACGAGGTCCAGGGGCACCCTT	0.416													G	48391483	-	G	48391482	7	5	235	1	0	1	1	0	0	0	0	0	3687	175	7	0	4217	0	COL2A1	12	48391482	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	10620	48391482	85460413	949	118542	591	2									
COL2A1	1280	broad.mit.edu	37	chr12	48391483	48391484	+	Frame_Shift_Ins	INS	-	-	G													atctctgccacgaggtccagINSgggcacccttggcataaaga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:48391482_48391483A>AG	uc001rqu.3	-	6	618_619	c.437_438T>CT	c.(436-438)cctfs	p.P146fs	COL2A1_uc001rqv.3_Frame_Shift_Ins_p.P77fs	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	146					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)	CACGAGGTCCAGGGGCACCCTT	0.589													G	48391484	-	G	48391483	7	5	235	1	0	1	1	0	0	0	0	0	3687	1000	35	0	4218	0	COL2A1	12	48391483	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	48391483	85460412	950	118543	591	2									
WNT1	7471	broad.mit.edu	37	chr12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-													cgggggccccgactggcactGggggggctgcagcgacaaca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:49374348delG	uc001rsu.2	+	3	698	c.500delG	c.(499-501)TGGfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	167					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			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.552													-	49374348	G	-	49374348	7	5	235	1	0	1	0	1	0	0	0	0	17378	1357	47	0	510	0	WNT1	12	49374348	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	982865	49374348	84477547	951	118544											
MLL2	8085	broad.mit.edu	37	chr12	49445674	49445674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaaatggtgggaacagacGagatgcctccggtggtggag	16	7	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:49445674G>A	uc001rta.3	-	10	1792	c.1792C>T	c.(1792-1794)CGT>TGT	p.R598C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	598	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGAACAGACGAGATGCCTCC	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49445674	G	A	49445674	3	1	235	1	0	0	0	0	1	0	0	0	9621	1058	37	1	15001	1	MLL2	12	49445674	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	71326	49445674	84406221	952	118545											
LARP4	113251	broad.mit.edu	37	chr12	50848191	50848192	+	Frame_Shift_Ins	INS	-	-	A													aatatgggtcgaccattccaINSaaaaaatcggtaagataaaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:50848190_50848191C>CA	uc001rwp.2	+	9	1313_1314	c.1111_1112C>CA	c.(1111-1113)caafs	p.Q371fs	LARP4_uc001rwq.2_Frame_Shift_Ins_p.Q300fs|LARP4_uc001rwt.2_Frame_Shift_Ins_p.Q300fs|LARP4_uc001rws.2_Frame_Shift_Ins_p.Q370fs|LARP4_uc001rwr.2_Frame_Shift_Ins_p.Q371fs|LARP4_uc021qxv.1_Frame_Shift_Ins_p.Q301fs|LARP4_uc009zlr.1_Frame_Shift_Ins_p.Q190fs|LARP4_uc001rwm.3_Frame_Shift_Ins_p.Q371fs|LARP4_uc001rwn.3_Frame_Shift_Ins_p.Q301fs	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	371							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TCGACCATTCCAAAAAAATCGG	0.356													A	50848192	-	A	50848191	7	5	235	1	0	1	1	0	0	0	0	0	8630	130	5	0	1150	0	LARP4	12	50848191	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1402517	50848191	83003704	953	118546											
ACVR1B	91	broad.mit.edu	37	chr12	52380676	52380676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaatgtgctgatatttAtgccctcgggcttgtatatt	8	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:52380676A>G	uc001rzn.2	+	7	1253	c.1211A>G	c.(1210-1212)TAT>TGT	p.Y404C	ACVR1B_uc001rzl.2_Missense_Mutation_p.Y404C|ACVR1B_uc001rzm.2_Missense_Mutation_p.Y404C|ACVR1B_uc010snn.1_Missense_Mutation_p.Y445C	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	404	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCTGATATTTATGCCCTCGGG	0.418													G	52380676	A	G	52380676	3	3	235	1	0	0	0	0	1	0	0	0	221	449	16	3	1364	3	ACVR1B	12	52380676	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1532485	52380676	81471219	954	118547											
NR4A1	3164	broad.mit.edu	37	chr12	52452493	52452493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcatgggctgcaggagcCgcggcgggtggaggagctgc	21	11	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:52452493C>T	uc001rzs.2	+	8	1876	c.1562C>T	c.(1561-1563)CCG>CTG	p.P521L	NR4A1_uc010sno.1_Missense_Mutation_p.P534L|NR4A1_uc001rzt.2_Missense_Mutation_p.P521L|NR4A1_uc009zmc.2_Missense_Mutation_p.R135C	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	521					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				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGCAGGAGCCGCGGCGGGTG	0.672													T	52452493	C	T	52452493	3	4	235	1	0	0	0	0	1	0	0	0	10632	652	23	1	1584	1	NR4A1	12	52452493	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	71817	52452493	81399402	955	118548											
AMHR2	269	broad.mit.edu	37	chr12	53819659	53819659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccgggggggtcctggcCgcctgctctctgggcccctg	16	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:53819659C>T	uc001scx.1	+	6	886	c.808C>T	c.(808-810)CGC>TGC	p.R270C	AMHR2_uc009zmy.1_Missense_Mutation_p.R270C	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	270	Cytoplasmic (Potential).|Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	GGGTCCTGGCCGCCTGCTCTC	0.483									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				T	53819659	C	T	53819659	3	4	235	1	0	0	0	0	1	0	0	0	573	652	23	1	830	1	AMHR2	12	53819659	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1367166	53819659	80032236	956	118549											
MAP3K12	7786	broad.mit.edu	37	chr12	53876800	53876800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggggtggcacagctgtaCgaagcccaggcaggtcccca	14	13	0	0	rs143743852		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:53876800C>T	uc001sdm.1	-	12	1786	c.1688G>A	c.(1687-1689)CGT>CAT	p.R563H	MAP3K12_uc001sdn.1_Missense_Mutation_p.R596H	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	563					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			lung(2)|ovary(1)|breast(1)|skin(1)	5						CACAGCTGTACGAAGCCCAGG	0.706													T	53876800	C	T	53876800	3	4	235	1	0	0	0	0	1	0	0	0	9246	536	19	1	907	1	MAP3K12	12	53876800	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	57141	53876800	79975095	957	118550											
OR6C70	390327	broad.mit.edu	37	chr12	55863642	55863642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaactgagatatgcaaCcattacaggaaatggtcttt	7	7	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:55863642C>T	uc010spn.1	-	1	281	c.281G>A	c.(280-282)GGT>GAT	p.G94D		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGATATGCAACCATTACAGGA	0.393													T	55863642	C	T	55863642	3	4	235	1	0	0	0	0	1	0	0	0	11197	507	18	4	659	4	OR6C70	12	55863642	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1986842	55863642	77988253	958	118551											
RNF41	10193	broad.mit.edu	37	chr12	56604256	56604256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtactgggcgcagatgggCgaccgtcacaacactacggt	14	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:56604256C>T	uc001skf.1	-	4	556	c.187G>A	c.(187-189)GCC>ACC	p.A63T	RNF41_uc001ske.1_5'UTR|RNF41_uc001skg.1_Missense_Mutation_p.A63T|RNF41_uc010sqg.1_Intron|RNF41_uc010sqh.1_5'UTR|RNF41_uc001skh.2_Missense_Mutation_p.A76T	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	63					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						CGCAGATGGGCGACCGTCACA	0.552													T	56604256	C	T	56604256	3	4	235	1	0	0	0	0	1	0	0	0	13494	768	27	1	782	1	RNF41	12	56604256	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	740614	56604256	77247639	959	118552											
STAC3	246329	broad.mit.edu	37	chr12	57637988	57637988	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtttggagggaaaaatccGaccttctccccgattttccc	8	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:57637988G>A	uc001snp.2	-	11	1074	c.879C>T	c.(877-879)GTC>GTT	p.V293V	STAC3_uc009zpl.2_Missense_Mutation_p.R11W|STAC3_uc001snq.2_Silent_p.V254V|STAC3_uc010srm.1_Silent_p.V107V	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	293	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						GGAAAAATCCGACCTTCTCCC	0.557											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	57637988	G	A	57637988	2	1	235	1	0	0	0	0	0	0	0	1	15240	1045	37	1		1	STAC3	12	57637988	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1033732	57637988	76213907	960	118553											
GLI1	2735	broad.mit.edu	37	chr12	57865760	57865760	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cataccccacctccctctggGccccccaacatggctgtggg	9	19	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:57865760G>C	uc001snx.2	+	12	3315	c.3237G>C	c.(3235-3237)GGG>GGC	p.G1079G	GLI1_uc009zpq.2_Silent_p.G951G	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	1079					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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCCTCTGGGCCCCCCAACA	0.557													C	57865760	G	C	57865760	2	2	235	1	0	0	0	0	0	0	0	1	6437	1190	42	5		5	GLI1	12	57865760	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	227772	57865760	75986135	961	118554											
B4GALNT1	2583	broad.mit.edu	37	chr12	58025103	58025104	+	Frame_Shift_Ins	INS	-	-	C													ctggaaggggagggggaggcINScccccccactggactcacaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:58025102_58025103G>GC	uc001spg.1	-	2	695_696	c.263_264C>GC	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													C	58025104	-	C	58025103	7	5	235	1	0	1	1	0	0	0	0	0	1266	739	26	0	1374	0	B4GALNT1	12	58025103	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	159343	58025103	75826792	962	118555											
FAM119B	25895	broad.mit.edu	37	chr12	58174093	58174093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagaacagatccagggcaaCgtccaggccaatgtgccagc	11	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:58174093C>T	uc001sqg.2	+	3	470	c.345C>T	c.(343-345)AAC>AAT	p.N115N	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	115						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCAGGGCAACGTCCAGGCCA	0.582													T	58174093	C	T	58174093	2	4	235	1	0	0	0	0	0	0	0	1	5414	535	19	1		1	FAM119B	12	58174093	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	148990	58174093	75677802	963	118556											
LRIG3	121227	broad.mit.edu	37	chr12	59281569	59281588	+	Splice_Site	DEL	ACAAAGTCTTTAAACTGGAA	ACAAAGTCTTTAAACTGGAA	-													gacagcaaaacgtgtaacttAcaaagtctttaaactggaaa					rs148886133		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:59281568_59281587TACAAAGTCTTTAAACTGGAA>T	uc001sqr.3	-	8	1337	c.1091_splice	c.e8+1	p.L364_splice	LRIG3_uc009zqh.3_Splice_Site_p.L304_splice|LRIG3_uc010ssh.2_Splice_Site	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	364						integral to membrane		p.K362N(1)	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)			ACGTGTAACTTACAAAGTCTTTAAACTGGAAAGCCCCCGG	0.418			T	ROS1	NSCLC								-	59281588	ACAAAGTCTTTAAACTGGAA	-	59281569	8	5	235	1	0	1	0	1	0	0	1	0	8946	405	14	0	2314	0	LRIG3	12	59281569	Splice_Site	DEL	ACAAAGTCTTTAAACTGGAA	TCGA-F1-6177-01A-11D-1800-08	1107476	59281569	74570326	964	118557											
AVPR1A	552	broad.mit.edu	37	chr12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-													tcttgaaggagatggccactAaaaaacatgtatatccaggg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:63541343delA	uc001sro.1	-	2	3027	c.1053delT	c.(1051-1053)TTTfs	p.F351fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	351	Helical; Name=7; (Potential).				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				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GATGGCCACTAAAAAACATGT	0.398													-	63541343	A	-	63541343	7	5	235	1	0	1	0	1	0	0	0	0	1231	359	13	0	207	0	AVPR1A	12	63541343	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	4259774	63541343	70310552	965	118558											
KCNMB4	27345	broad.mit.edu	37	chr12	70760700	70760700	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctgtcggtgcagcagatCggcgaggtgttcgagtgcac	17	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:70760700C>T	uc001svx.2	+	1	639	c.186C>T	c.(184-186)ATC>ATT	p.I62I		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	calcium-activated potassium channel beta 4	62	Extracellular (Potential).				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				0	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TGCAGCAGATCGGCGAGGTGT	0.617													T	70760700	C	T	70760700	2	4	235	1	0	0	0	0	0	0	0	1	8077	874	31	1		1	KCNMB4	12	70760700	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7219357	70760700	63091195	966	118559											
PTPRB	5787	broad.mit.edu	37	chr12	70960486	70960486	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggacagatgctggaacTgcagagagacaagtggagca	14	8	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:70960486T>C	uc001swb.3	-	13	3011	c.2981_splice	c.e13-1	p.V994_splice	PTPRB_uc010sto.1_Intron|PTPRB_uc010stp.1_Splice_Site_p.V904_splice|PTPRB_uc001swc.3_Splice_Site_p.V1212_splice|PTPRB_uc001swa.3_Splice_Site_p.V1124_splice|PTPRB_uc001swd.3_Splice_Site_p.V1211_splice|PTPRB_uc009zrr.1_Splice_Site_p.V1091_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			ATGCTGGAACTGCAGAGAGAC	0.398													C	70960486	T	C	70960486	5	2	235	1	0	0	0	0	0	0	1	0	12796	1594	55	3	3094	3	PTPRB	12	70960486	Splice_Site	SNP	T	TCGA-F1-6177-01A-11D-1800-08	199786	70960486	62891409	967	118560											
CEP290	80184	broad.mit.edu	37	chr12	88480176	88480176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcattcataccttttgtgCcgcatttagtatttcatttt	4	8	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:88480176C>T	uc001tar.2	-	33	4638	c.4294G>A	c.(4294-4296)GCA>ACA	p.A1432T	CEP290_uc001taq.2_Missense_Mutation_p.A492T	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1432	Potential.				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			ovary(5)|breast(1)|pancreas(1)	7						ACCTTTTGTGCCGCATTTAGT	0.358													T	88480176	C	T	88480176	3	4	235	1	0	0	0	0	1	0	0	0	3253	739	26	2	3233	2	CEP290	12	88480176	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	17519690	88480176	45371719	968	118561											
EEA1	8411	broad.mit.edu	37	chr12	93170683	93170683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtacttcattgtcttcGgcccactttctattcaacgc	5	12	4	0	rs142495165		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:93170683G>A	uc001tck.2	-	28	4315	c.4050C>T	c.(4048-4050)GCC>GCT	p.A1350A		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1350					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			ovary(2)|skin(1)	3						CATTGTCTTCGGCCCACTTTC	0.328													A	93170683	G	A	93170683	2	1	235	1	0	0	0	0	0	0	0	1	4921	1103	39	1		1	EEA1	12	93170683	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4690507	93170683	40681212	969	118562											
PLXNC1	10154	broad.mit.edu	37	chr12	94653399	94653401	+	In_Frame_Del	DEL	ACG	ACG	-													ttatcagaacagagacgccaAcgacaagaatgaaagtctca					rs114497004	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:94653399_94653401delACG	uc001tdc.2	+	19	3389_3391	c.3140_3142delACG	c.(3139-3144)AACGAC>AAC	p.D1048del	PLXNC1_uc010sut.1_In_Frame_Del_p.D95del|PLXNC1_uc009zsv.2_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1048	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGAGACGCCAACGACAAGAATGA	0.335													-	94653401	ACG	-	94653399	7	5	235	1	0	1	0	1	0	0	0	0	12126	43	2	0	3214	0	PLXNC1	12	94653399	In_Frame_Del	DEL	ACG	TCGA-F1-6177-01A-11D-1800-08	1482716	94653399	39198496	970	118563											
STAB2	55576	broad.mit.edu	37	chr12	104048390	104048390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtaaaaattatacaaGgggacatcattgcttccaat	8	6	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:104048390G>T	uc001tjw.2	+	13	1651	c.1465G>T	c.(1465-1467)GGG>TGG	p.G489W		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	489	Extracellular (Potential).|FAS1 1.				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			ovary(9)|skin(5)	14						AATTATACAAGGGGACATCAT	0.358													T	104048390	G	T	104048390	3	4	235	1	0	0	0	0	1	0	0	0	15237	1000	35	5	1515	5	STAB2	12	104048390	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	9394991	104048390	29803505	971	118564											
EID3	493861	broad.mit.edu	37	chr12	104698248	104698248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcattcaagctagaacGttctgcaccaaagccccgac	8	13	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:104698248G>A	uc001tkw.2	+	1	700	c.536G>A	c.(535-537)CGT>CAT	p.R179H	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						AAGCTAGAACGTTCTGCACCA	0.423													A	104698248	G	A	104698248	3	1	235	1	0	0	0	0	1	0	0	0	4989	1145	40	1	538	1	EID3	12	104698248	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	649858	104698248	29153647	972	118565											
SSH1	54434	broad.mit.edu	37	chr12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgcctccgggccacttCgcaggccttgtgaagcacct	12	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:109201572C>T	uc001tnm.2	-	8	655	c.568G>A	c.(568-570)GAA>AAA	p.E190K	SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Missense_Mutation_p.E201K|SSH1_uc001tnn.3_Missense_Mutation_p.E190K|SSH1_uc001tno.1_Missense_Mutation_p.E94K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	190					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			ovary(4)	4						CGGGCCACTTCGCAGGCCTTG	0.592													T	109201572	C	T	109201572	3	4	235	1	0	0	0	0	1	0	0	0	15183	893	31	1	2799	1	SSH1	12	109201572	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4503324	109201572	24650323	973	118566											
DAO	1610	broad.mit.edu	37	chr12	109293174	109293174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagaattattggtgaaCgaactggcttccggccagta	11	8	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:109293174C>T	uc001tnr.3	+	10	988	c.835C>T	c.(835-837)CGA>TGA	p.R279*	DAO_uc001tnq.3_Nonsense_Mutation_p.R213*|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	279				R -> A (in Ref. 1; CAA31614).	glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						TATTGGTGAACGAACTGGCTT	0.458													T	109293174	C	T	109293174	4	4	235	1	0	0	0	0	0	1	0	0	4231	528	19	1	869	1	DAO	12	109293174	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	91602	109293174	24558721	974	118567											
TRPV4	59341	broad.mit.edu	37	chr12	110221457	110221458	+	Frame_Shift_Ins	INS	-	-	G													gtcatcagtcctccacttgcINSgggggtaaccctgctggtgg					rs149267166		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:110221457_110221458insG	uc001tpj.1	-	15	2679_2680	c.2584_2585insC	c.(2584-2586)CGCfs	p.R862fs	TRPV4_uc001tpg.1_Frame_Shift_Ins_p.R828fs|TRPV4_uc001tph.1_Frame_Shift_Ins_p.R815fs|TRPV4_uc001tpi.1_Frame_Shift_Ins_p.R755fs|TRPV4_uc001tpk.1_Frame_Shift_Ins_p.R862fs|TRPV4_uc001tpl.1_Frame_Shift_Ins_p.R802fs	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	862	Cytoplasmic (Potential).				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CCTCCACTTGCGGGGGTAACCC	0.624													G	110221458	-	G	110221457	7	5	235	1	0	1	1	0	0	0	0	0	16595	768	27	0	34	0	TRPV4	12	110221457	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	928283	110221457	23630438	975	118568	592	2									
TRPV4	59341	broad.mit.edu	37	chr12	110221458	110221459	+	Frame_Shift_Ins	INS	-	-	G													tcatcagtcctccacttgcgINSggggtaaccctgctggtggc					rs149267166		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:110221457_110221458C>CG	uc001tpj.2	-	14	2679_2680	c.2584_2585G>CG	c.(2584-2586)cgcfs	p.R862fs	TRPV4_uc001tpg.2_Frame_Shift_Ins_p.R828fs|TRPV4_uc021rdp.1_Frame_Shift_Ins_p.R802fs|TRPV4_uc001tph.2_Frame_Shift_Ins_p.R815fs|TRPV4_uc001tpi.2_Frame_Shift_Ins_p.R755fs|TRPV4_uc001tpk.2_Frame_Shift_Ins_p.R862fs	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	862					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	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C 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						CCTCCACTTGCGGGGGTAACCC	0.624													G	110221459	-	G	110221458	7	5	235	1	0	1	1	0	0	0	0	0	16595	1116	39	0	35	0	TRPV4	12	110221458	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	110221458	23630437	976	118569	592	2									
ATXN2	6311	broad.mit.edu	37	chr12	111924631	111924631	+	Splice_Site	DEL	A	A	-													gttgatttcctaacttgcctAaaaaaaatataaaggccagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:111924630_111924630TA>T	uc001tsj.3	-	16	2883	c.2721_splice	c.e16-1	p.E907_splice	ATXN2_uc001tsh.3_Splice_Site_p.E642_splice|ATXN2_uc001tsi.3_Splice_Site_p.E618_splice|ATXN2_uc001tsk.3_Splice_Site	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	907					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus 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						CTAACTTGCCTAAAAAAAATA	0.333													-	111924631	A	-	111924631	8	5	235	1	0	1	0	1	0	0	1	0	1211	377	13	0		0	ATXN2	12	111924631	Splice_Site	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1703173	111924631	21927264	977	118570											
NAA25	80018	broad.mit.edu	37	chr12	112485489	112485490	+	Frame_Shift_Ins	INS	-	-	A													tgtcttttggatcccagctgINSaaaaaaacatttaagtctct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:112485489_112485490insA	uc001ttm.2	-	17	2005_2006	c.1985_1986insT	c.(1984-1986)TTCfs	p.F662fs	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Frame_Shift_Ins_p.F634fs|NAA25_uc009zwa.1_Frame_Shift_Ins_p.F662fs	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	662						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GATCCCAGCTGAAAAAAACATT	0.327													A	112485490	-	A	112485489	7	5	235	1	0	1	1	0	0	0	0	0	10121	1281	45	0	964	0	NAA25	12	112485489	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	560858	112485489	21366406	978	118571	593	2									
NAA25	80018	broad.mit.edu	37	chr12	112485490	112485491	+	Frame_Shift_Ins	INS	-	-	A													gtcttttggatcccagctgaINSaaaaaacatttaagtctctg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:112485489_112485490G>GA	uc001ttm.3	-	16	2043_2044	c.1985_1986C>TC	c.(1984-1986)ttcfs	p.F662fs	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Frame_Shift_Ins_p.F634fs|NAA25_uc009zwa.2_Frame_Shift_Ins_p.F662fs	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	662						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						GATCCCAGCTGAAAAAAACATT	0.351													A	112485491	-	A	112485490	7	5	235	1	0	1	1	0	0	0	0	0	10121	246	9	0	965	0	NAA25	12	112485490	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	112485490	21366405	979	118572	593	2									
C12orf51	283450	broad.mit.edu	37	chr12	112673511	112673511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaggactagctttggagacGggcgttggtcaagcagcagg	16	7	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:112673511G>T	uc009zwc.2	-	29	4274	c.4256C>A	c.(4255-4257)CCG>CAG	p.P1419Q		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTTTGGAGACGGGCGTTGGTC	0.562													T	112673511	G	T	112673511	3	4	235	1	0	0	0	0	1	0	0	0	1696	1116	39	5	7898	5	C12orf51	12	112673511	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	188021	112673511	21178384	980	118573											
RPH3A	22895	broad.mit.edu	37	chr12	113321126	113321126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcgtacaaaaactctgcGgaatacccggaaccccatct	7	14	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:113321126G>A	uc010syl.1	+	16	1717	c.1355G>A	c.(1354-1356)CGG>CAG	p.R452Q	RPH3A_uc001ttz.2_Missense_Mutation_p.R452Q|RPH3A_uc001tty.2_Missense_Mutation_p.R448Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R448Q|RPH3A_uc010sym.1_Missense_Mutation_p.R403Q|RPH3A_uc001tua.2_Missense_Mutation_p.R212Q	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	452	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.R448Q(1)		ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAAACTCTGCGGAATACCCGG	0.562													A	113321126	G	A	113321126	3	1	235	1	0	0	0	0	1	0	0	0	13551	1116	39	1	1409	1	RPH3A	12	113321126	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	647615	113321126	20530769	981	118574											
OAS3	4940	broad.mit.edu	37	chr12	113405771	113405771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccaaggggagaggctccCtacccccacagcacgggctg	12	16	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:113405771C>A	uc001tug.2	+	14	2983	c.2896C>A	c.(2896-2898)CTA>ATA	p.L966I		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	966	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GAGAGGCTCCCTACCCCCACA	0.547													A	113405771	C	A	113405771	3	1	235	1	0	0	0	0	1	0	0	0	10801	680	24	5	2950	5	OAS3	12	113405771	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	84645	113405771	20446124	982	118575											
PLBD2	196463	broad.mit.edu	37	chr12	113825652	113825653	+	Frame_Shift_Ins	INS	-	-	A													ctccgacctcaacccggccaINSatggctcctaccccttccag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:113825651_113825652C>CA	uc001tve.2	+	10	1577_1578	c.1542_1543C>CA	c.(1540-1545)gccaatfs	p.A514fs	PLBD2_uc001tvf.2_Frame_Shift_Ins_p.A482fs	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	514					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCAACCCGGCCAATGGCTCCTA	0.624													A	113825653	-	A	113825652	7	5	235	1	0	1	1	0	0	0	0	0	12026	130	5	0	1585	0	PLBD2	12	113825652	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	419881	113825652	20026243	983	118576											
RBM19	9904	broad.mit.edu	37	chr12	114395612	114395612	+	Frame_Shift_Del	DEL	T	T	-													ctctggcctccggtggtctcTttttcccagctggcatccct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:114395611_114395611CT>C	uc009zwi.2	-	5	960	c.816_816AG>G	c.(814-816)aagfs	p.K272fs	RBM19_uc001tvn.4_Frame_Shift_Del_p.K272fs|RBM19_uc001tvm.3_Frame_Shift_Del_p.K272fs	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	272					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide 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)					CCGGTGGTCTCTTTTTCCCAG	0.632													-	114395612	T	-	114395612	7	5	235	1	0	1	0	1	0	0	0	0	13121	1609	56	0	2143	0	RBM19	12	114395612	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	569960	114395612	19456283	984	118577											
WSB2	55884	broad.mit.edu	37	chr12	118480690	118480690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagtcttatcccgtgacGcggagaccaaaatcaaactg	10	10	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:118480690G>A	uc001twr.2	-	4	613	c.515C>T	c.(514-516)GCG>GTG	p.A172V	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.A172V	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	172	WD 2.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCCCGTGACGCGGAGACCAA	0.498													A	118480690	G	A	118480690	3	1	235	1	0	0	0	0	1	0	0	0	17402	1087	38	1	723	1	WSB2	12	118480690	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4085078	118480690	15371205	985	118578											
CIT	11113	broad.mit.edu	37	chr12	120150099	120150099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaagtagagggttctccCgggccagcaggtggtgtgcg	17	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:120150099C>T	uc001txi.1	-	36	4665	c.4612G>A	c.(4612-4614)GGG>AGG	p.G1538R	CIT_uc001txh.1_Missense_Mutation_p.G1057R|CIT_uc001txj.1_Missense_Mutation_p.G1580R	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1538	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGGGTTCTCCCGGGCCAGCAG	0.537													T	120150099	C	T	120150099	3	4	235	1	0	0	0	0	1	0	0	0	3438	652	23	1	1519	1	CIT	12	120150099	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1669409	120150099	13701796	986	118579											
RNF10	9921	broad.mit.edu	37	chr12	121013442	121013442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactttggcagatgctgagGgttggaaaagcaaaagcaga	13	7	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:121013442G>T	uc001typ.3	+	15	2634	c.2151G>T	c.(2149-2151)AGG>AGT	p.R717S	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R628S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	717					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATGCTGAGGGTTGGAAAAG	0.478													T	121013442	G	T	121013442	3	4	235	1	0	0	0	0	1	0	0	0	13422	1223	43	5	2209	5	RNF10	12	121013442	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	863343	121013442	12838453	987	118580											
RNF34	80196	broad.mit.edu	37	chr12	121868063	121868063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcccctcccagagcccGccccgtatttacatacttat	4	18	1	1	rs111862260	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:121868063G>A	uc001uam.1	+	7	1404	c.1290G>A	c.(1288-1290)CCG>CCA	p.P430P	KDM2B_uc001uaq.2_Intron|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_Intron|KDM2B_uc001uas.2_Intron|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_Intron|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_Intron	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	Error:Variant_position_missing_in_Q969K3_after_alignment					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCCAGAGCCCGCCCCGTATTT	0.443													A	121868063	G	A	121868063	2	1	235	1	0	0	0	0	0	0	0	1	13489	1102	38	1		1	RNF34	12	121868063	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	854621	121868063	11983832	988	118581											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:122685345_122685345AC>A	uc009zxm.3	+	9	1698	c.1673_1673AC>A	c.(1672-1674)gacfs	p.D558fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.D373fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.D319fs|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	558										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCGGCAGGACCCCCCCATC	0.667													-	122685346	C	-	122685346	7	5	235	1	0	1	0	1	0	0	0	0	9001	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	817283	122685346	11166549	989	118582											
CLIP1	6249	broad.mit.edu	37	chr12	122757436	122757436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttcatcagaaggtttcgtCgtcattgcagttggtggccc	12	10	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:122757436C>T	uc001ucg.1	-	25	4409	c.4303G>A	c.(4303-4305)GAC>AAC	p.D1435N	CLIP1_uc001uch.1_Missense_Mutation_p.D1424N|CLIP1_uc001uci.1_Missense_Mutation_p.D1389N|CLIP1_uc001ucf.1_Missense_Mutation_p.D94N	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1435					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	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)		AAGGTTTCGTCGTCATTGCAG	0.542													T	122757436	C	T	122757436	3	4	235	1	0	0	0	0	1	0	0	0	3532	884	31	1	17	1	CLIP1	12	122757436	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	72090	122757436	11094459	990	118583											
DNAH10	196385	broad.mit.edu	37	chr12	124403311	124403311	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccagcagccaggaggggggCcatcctgttcttcgtcctgt	14	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:124403311C>G	uc001uft.3	+	64	10992	c.10967C>G	c.(10966-10968)GCC>GGC	p.A3656G		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3656					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		AGGAGGGGGGCCATCCTGTTC	0.562													G	124403311	C	G	124403311	3	3	235	1	0	0	0	0	1	0	0	0	4598	739	26	5	11221	5	DNAH10	12	124403311	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1645875	124403311	9448584	991	118584											
AACS	65985	broad.mit.edu	37	chr12	125618593	125618593	+	Frame_Shift_Del	DEL	G	G	-													gcagaatcaaccccaagaccGggggcatcgtcatgcttggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:125618593delG	uc001uhc.2	+	15	1800	c.1594delG	c.(1594-1596)GGGfs	p.G532fs	AACS_uc001uhd.2_Frame_Shift_Del_p.G532fs|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Frame_Shift_Del_p.G130fs	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	532					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCCCAAGACCGGGGGCATCGT	0.617													-	125618593	G	-	125618593	7	5	235	1	0	1	0	1	0	0	0	0	9	1116	39	0	1652	0	AACS	12	125618593	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1215282	125618593	8233302	992	118585											
EP400	57634	broad.mit.edu	37	chr12	132547132	132547132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcaacagcagcagcagca	12	14	0	0	rs149369604	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:132547132G>A	uc001ujn.2	+	46	8255	c.8220G>A	c.(8218-8220)CAG>CAA	p.Q2740Q	EP400_uc001ujl.2_Silent_p.Q2739Q|EP400_uc001ujm.2_Silent_p.Q2659Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2776	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		agcagcagcagcagcaacagc	0.313													A	132547132	G	A	132547132	2	1	235	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EP400	12	132547132	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6928539	132547132	1304763	993	118586											
GOLGA3	2802	broad.mit.edu	37	chr12	133384552	133384552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttggtgctcagcggctGcggcctggaggacgtcctta	16	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr12:133384552G>A	uc001ukz.1	-	5	1662	c.1103C>T	c.(1102-1104)GCA>GTA	p.A368V	GOLGA3_uc001ula.1_Missense_Mutation_p.A368V|GOLGA3_uc001ulb.2_Missense_Mutation_p.A368V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	368					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		CTCAGCGGCTGCGGCCTGGAG	0.622													A	133384552	G	A	133384552	3	1	235	1	0	0	0	0	1	0	0	0	6554	1319	46	2	3611	2	GOLGA3	12	133384552	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	837420	133384552	467343	994	118587											
SACS	26278	broad.mit.edu	37	chr13	23910913	23910913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgataaaggtatggtgCcgcctcaaaatttaaatgaa	8	7	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:23910913C>T	uc001uon.2	-	10	7691	c.7102G>A	c.(7102-7104)GCA>ACA	p.A2368T	SACS_uc001uoo.2_Missense_Mutation_p.A2221T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2368					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		AGGTATGGTGCCGCCTCAAAA	0.353													T	23910913	C	T	23910913	3	4	235	1	0	0	0	0	1	0	0	0	13804	739	26	2	6641	2	SACS	13	23910913	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		23910913	91258965	995	118588											
SACS	26278	broad.mit.edu	37	chr13	23911667	23911667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttgcaactcgtccttcGgggtggatcaatcttgatgg	11	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:23911667G>A	uc001uon.2	-	10	6937	c.6348C>T	c.(6346-6348)CCC>CCT	p.P2116P	SACS_uc001uoo.2_Silent_p.P1969P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2116					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CTCGTCCTTCGGGGTGGATCA	0.393													A	23911667	G	A	23911667	2	1	235	1	0	0	0	0	0	0	0	1	13804	1103	39	1		1	SACS	13	23911667	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	754	23911667	91258211	996	118589											
RNF17	56163	broad.mit.edu	37	chr13	25374553	25374553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgctaagcaacatattGcactaaatgatttatgtctg	6	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:25374553G>A	uc001upr.2	+	13	1680	c.1639G>A	c.(1639-1641)GCA>ACA	p.A547T	RNF17_uc010tdd.1_Missense_Mutation_p.A406T|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.A547T|RNF17_uc001ups.2_Missense_Mutation_p.A486T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	547					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		GCAACATATTGCACTAAATGA	0.353													A	25374553	G	A	25374553	3	1	235	1	0	0	0	0	1	0	0	0	13461	1319	46	2	1689	2	RNF17	13	25374553	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1462886	25374553	89795325	997	118590											
WASF3	10810	broad.mit.edu	37	chr13	27255387	27255388	+	Frame_Shift_Ins	INS	-	-	C													caacagacctcagcagccgcINScccccccgcctccccctcag					rs141429361		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:27255386_27255387G>GC	uc001uqv.3	+	7	1137_1138	c.912_913G>GC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678													C	27255388	-	C	27255387	7	5	235	1	0	1	1	0	0	0	0	0	17251	739	26	0	935	0	WASF3	13	27255387	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1880834	27255387	87914491	998	118591											
FAM48A	55578	broad.mit.edu	37	chr13	37598274	37598274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttgatggcttagaagaagGaggaggagttggagatttga	16	2	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:37598274G>A	uc001uwg.2	-	19	1737	c.1489C>T	c.(1489-1491)CCT>TCT	p.P497S	FAM48A_uc010abt.2_Missense_Mutation_p.P498S|FAM48A_uc001uwh.2_Missense_Mutation_p.P498S|FAM48A_uc001uwi.2_Missense_Mutation_p.P497S|FAM48A_uc001uwj.2_Missense_Mutation_p.P498S|FAM48A_uc001uwk.2_Missense_Mutation_p.P497S|FAM48A_uc010tes.1_Missense_Mutation_p.P461S|FAM48A_uc001uwl.1_Missense_Mutation_p.P497S|FAM48A_uc001uwd.2_5'Flank|FAM48A_uc001uwe.2_5'UTR|FAM48A_uc001uwf.2_Missense_Mutation_p.P75S	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	497					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTAGAAGAAGGAGGAGGAGTT	0.393													A	37598274	G	A	37598274	3	1	235	1	0	0	0	0	1	0	0	0	5572	1174	41	4	882	4	FAM48A	13	37598274	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10342887	37598274	77571604	999	118592											
COG6	57511	broad.mit.edu	37	chr13	40229920	40229920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaccggggctgccaacggCctcaacaatggggcaggcgg	17	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:40229920C>T	uc001uxh.2	+	1	157	c.57C>T	c.(55-57)GGC>GGT	p.G19G	COG6_uc001uxi.2_5'UTR|COG6_uc010acb.2_Silent_p.G19G	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	19					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CTGCCAACGGCCTCAACAATG	0.677													T	40229920	C	T	40229920	2	4	235	1	0	0	0	0	0	0	0	1	3662	726	26	2		2	COG6	13	40229920	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2631646	40229920	74939958	1000	118593											
TSC22D1	8848	broad.mit.edu	37	chr13	45150004	45150005	+	Frame_Shift_Ins	INS	-	-	G													ccgacgtagaagatgctgcaINSgggggcggcggctgaagcag					rs145475008		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:45150004_45150005insG	uc001uzn.3	-	1	697_698	c.206_207insC	c.(205-207)CCTfs	p.P69fs	TSC22D1_uc001uzo.1_Frame_Shift_Ins_p.P69fs	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	69	Pro-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		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)		AAGATGCTGCAGGGGGCGGCGG	0.634													G	45150005	-	G	45150004	7	5	235	1	0	1	1	0	0	0	0	0	16604	175	7	0	3155	0	TSC22D1	13	45150004	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	4920084	45150004	70019874	1001	118594	594	2									
TSC22D1	8848	broad.mit.edu	37	chr13	45150005	45150006	+	Frame_Shift_Ins	INS	-	-	G													cgacgtagaagatgctgcagINSggggcggcggctgaagcagc					rs145475008		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:45150004_45150005A>AG	uc001uzn.4	-	0	697_698	c.206_207T>CT	c.(205-207)cctfs	p.P69fs	TSC22D1_uc001uzo.2_Frame_Shift_Ins_p.P69fs|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	69	Pro-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)		AAGATGCTGCAGGGGGCGGCGG	0.634													G	45150006	-	G	45150005	7	5	235	1	0	1	1	0	0	0	0	0	16604	1000	35	0	3156	0	TSC22D1	13	45150005	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	45150005	70019873	1002	118595	594	2									
C13orf18	80183	broad.mit.edu	37	chr13	46933764	46933764	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggacacactcttcatttacGacctgcataagacataaaat	5	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:46933764G>A	uc010acl.2	-	9	1727	c.1122C>T	c.(1120-1122)GTC>GTT	p.V374V	C13orf18_uc001vbf.3_Silent_p.V307V|C13orf18_uc001vbg.3_Silent_p.V102V|C13orf18_uc010tfz.1_Silent_p.V217V|C13orf18_uc010acm.2_Silent_p.V239V|C13orf18_uc010acn.2_Silent_p.V159V|C13orf18_uc001vbe.3_Silent_p.V374V|C13orf18_uc001vbh.3_Silent_p.V374V|C13orf18_uc001vbi.3_Silent_p.V217V|C13orf18_uc010aco.1_Silent_p.V374V	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	374											0		Lung NSC(96;2.31e-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;2.19e-05)		CTTCATTTACGACCTGCATAA	0.313													A	46933764	G	A	46933764	2	1	235	1	0	0	0	0	0	0	0	1	1720	1045	37	1		1	C13orf18	13	46933764	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1783759	46933764	68236114	1003	118596											
PCDH17	27253	broad.mit.edu	37	chr13	58207580	58207580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccatcgaccccaagacCggcctaatccgtgtgaaggg	10	14	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:58207580C>T	uc001vhq.1	+	1	1792	c.900C>T	c.(898-900)ACC>ACT	p.T300T	PCDH17_uc010aec.1_Silent_p.T300T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	300	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACCCCAAGACCGGCCTAATCC	0.597													T	58207580	C	T	58207580	2	4	235	1	0	0	0	0	0	0	0	1	11512	639	23	1		1	PCDH17	13	58207580	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	11273816	58207580	56962298	1004	118597											
PCDH17	27253	broad.mit.edu	37	chr13	58208476	58208476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggagctgcaggtgccgcGcaacgctggcctgggctatc	16	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:58208476G>A	uc001vhq.1	+	1	2688	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	PCDH17_uc010aec.1_Missense_Mutation_p.R599H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	599	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGGTGCCGCGCAACGCTGGC	0.647													A	58208476	G	A	58208476	3	1	235	1	0	0	0	0	1	0	0	0	11512	1087	38	1	1798	1	PCDH17	13	58208476	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	896	58208476	56961402	1005	118598											
KLHL1	57626	broad.mit.edu	37	chr13	70293600	70293600	+	Frame_Shift_Del	DEL	C	C	-													cacatgtggccactccgacaCcccctctcctcttacacatg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:70293600delC	uc001vip.2	-	9	2710	c.1916delG	c.(1915-1917)GGTfs	p.G639fs	KLHL1_uc010thm.1_Frame_Shift_Del_p.G578fs	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	639	Kelch 4.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CACTCCGACACCCCCTCTCCT	0.463													-	70293600	C	-	70293600	7	5	235	1	0	1	0	1	0	0	0	0	8365	507	18	0	342	0	KLHL1	13	70293600	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	12085124	70293600	44876278	1006	118599											
POU4F1	5457	broad.mit.edu	37	chr13	79175961	79175961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgtcggcctgcgtcacGcccagcttgatgcgccgctg	12	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:79175961G>A	uc001vkv.2	-	2	1083	c.849C>T	c.(847-849)GGC>GGT	p.G283G	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	283	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CCTGCGTCACGCCCAGCTTGA	0.701													A	79175961	G	A	79175961	2	1	235	1	0	0	0	0	0	0	0	1	12278	1074	38	1		1	POU4F1	13	79175961	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	8882361	79175961	35993917	1007	118600											
DCT	1638	broad.mit.edu	37	chr13	95121040	95121040	+	Frame_Shift_Del	DEL	A	A	-													gaataataatggagccacacAaaaaaatcataaacactgca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:95121040delA	uc001vlv.3	-	2	982	c.555delT	c.(553-555)TTTfs	p.F185fs	DCT_uc010afh.2_Frame_Shift_Del_p.F185fs	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	185	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	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)		GGAGCCACACAAAAAAATCAT	0.448													-	95121040	A	-	95121040	7	5	235	1	0	1	0	1	0	0	0	0	4304	127	5	0	1139	0	DCT	13	95121040	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	15945079	95121040	20048838	1008	118601											
DCT	1638	broad.mit.edu	37	chr13	95131418	95131418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcactaggctgtccaccGtcatgcagactcgggggaac	12	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:95131418G>A	uc001vlv.3	-	1	519	c.92C>T	c.(91-93)ACG>ATG	p.T31M	DCT_uc010afh.2_Missense_Mutation_p.T31M	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	31	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	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)		GCTGTCCACCGTCATGCAGAC	0.607													A	95131418	G	A	95131418	3	1	235	1	0	0	0	0	1	0	0	0	4304	1145	40	1	1606	1	DCT	13	95131418	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10378	95131418	20038460	1009	118602											
DOCK9	23348	broad.mit.edu	37	chr13	99505676	99505676	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaccatcagacatgctcTttaagatgtagaggaaacac	7	10	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:99505676T>G	uc001vnt.2	-	35	3990	c.3935A>C	c.(3934-3936)AAG>ACG	p.K1312T	DOCK9_uc001vnw.2_Missense_Mutation_p.K1311T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.K1312T|DOCK9_uc010tip.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.K290T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1312					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGACATGCTCTTTAAGATGTA	0.378													G	99505676	T	G	99505676	3	3	235	1	0	0	0	0	1	0	0	0	4694	1609	56	5	2358	5	DOCK9	13	99505676	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	4374258	99505676	15664202	1010	118603											
ERCC5	2073	broad.mit.edu	37	chr13	103459927	103459927	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtacctctttatctgctggaAataattcatcaagatacatt	5	8	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:103459927A>T	uc001vpu.1	+	1	432	c.310A>T	c.(310-312)AAT>TAT	p.N104Y	BIVM_uc001vps.2_Missense_Mutation_p.N104Y|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.N104Y	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	141					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATCTGCTGGAAATAATTCATC	0.423			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	103459927	A	T	103459927	3	4	235	1	0	0	0	0	1	0	0	0	5216	14	1	5		5	ERCC5	13	103459927	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	3954251	103459927	11709951	1011	118604											
ERCC5	2073	broad.mit.edu	37	chr13	103514378	103514378	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttttaattcttcttaAggtattcaagctaagacagt	7	5	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:103514378A>C	uc001vpw.2	+	8	1324	c.881_splice	c.e8-2	p.G294_splice	ERCC5_uc001vpu.1_Splice_Site_p.G748_splice|ERCC5_uc010tjb.1_Splice_Site_p.G294_splice|ERCC5_uc010tjc.1_Splice_Site|ERCC5_uc010tjd.1_Splice_Site_p.G126_splice	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein						negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTCTTCTTAAGGTATTCAAG	0.383			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	103514378	A	C	103514378	5	2	235	1	0	0	0	0	0	0	1	0	5216	86	3	5	909	5	ERCC5	13	103514378	Splice_Site	SNP	A	TCGA-F1-6177-01A-11D-1800-08	54451	103514378	11655500	1012	118605											
FAM155A	728215	broad.mit.edu	37	chr13	108518130	108518130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctcctgagcatggtggTcatagtcctggtaagcctcg	11	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:108518130T>G	uc001vql.2	-	1	1331	c.815A>C	c.(814-816)GAC>GCC	p.D272A		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	272						integral to membrane	binding			skin(1)	1						AGCATGGTGGTCATAGTCCTG	0.507													G	108518130	T	G	108518130	3	3	235	1	0	0	0	0	1	0	0	0	5465	1667	58	5	573	5	FAM155A	13	108518130	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	5003752	108518130	6651748	1013	118606											
MYO16	23026	broad.mit.edu	37	chr13	109792754	109792754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccggggacgcgaggccCgcgggcgccccgggggcagc	21	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:109792754C>T	uc001vqt.1	+	32	4254	c.4128C>T	c.(4126-4128)CCC>CCT	p.P1376P	MYO16_uc010agk.1_Silent_p.P1398P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1376					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			acgcgaggcccgcgggcgccc	0.542													T	109792754	C	T	109792754	2	4	235	1	0	0	0	0	0	0	0	1	10064	639	23	1		1	MYO16	13	109792754	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1274624	109792754	5377124	1014	118607											
IRS2	8660	broad.mit.edu	37	chr13	110434725	110434725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaaccgaccaagccccCgggctgacccggggtccacg	13	17	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:110434725C>T	uc001vqv.2	-	1	4190	c.3676G>A	c.(3676-3678)GGG>AGG	p.G1226R		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1226					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			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	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)			ACCAAGCCCCCGGGCTGACCC	0.706													T	110434725	C	T	110434725	3	4	235	1	0	0	0	0	1	0	0	0	7841	652	23	1	348	1	IRS2	13	110434725	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	641971	110434725	4735153	1015	118608											
ATP11A	23250	broad.mit.edu	37	chr13	113505388	113505388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgttgcttataaaaggcTgatccaagaagaatatgaag	11	4	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:113505388T>C	uc001vsi.3	+	18	1935	c.1847T>C	c.(1846-1848)CTG>CCG	p.L616P	ATP11A_uc001vsj.3_Missense_Mutation_p.L616P|ATP11A_uc001vsm.1_Missense_Mutation_p.L492P|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	616	Cytoplasmic (Potential).				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			large_intestine(2)|ovary(2)	4	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)				TATAAAAGGCTGATCCAAGAA	0.448													C	113505388	T	C	113505388	3	2	235	1	0	0	0	0	1	0	0	0	1119	1580	55	3	1917	3	ATP11A	13	113505388	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3070663	113505388	1664490	1016	118609											
F10	2159	broad.mit.edu	37	chr13	113801712	113801712	+	Frame_Shift_Del	DEL	A	A	-													ggccctgctcatcaatgaggAaaacgagggtttctgtggtg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:113801712delA	uc001vsx.2	+	7	824	c.767delA	c.(766-768)GAAfs	p.E256fs	F10_uc010agq.1_RNA|F10_uc001vsy.2_Frame_Shift_Del_p.E256fs|F10_uc001vsz.2_Frame_Shift_Del_p.E256fs	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	256	Peptidase S1.				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			pancreas(1)	1	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)	ATCAATGAGGAAAACGAGGGT	0.552													-	113801712	A	-	113801712	7	5	235	1	0	1	0	1	0	0	0	0	5336	246	9	0	793	0	F10	13	113801712	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	296324	113801712	1368166	1017	118610											
TFDP1	7027	broad.mit.edu	37	chr13	114286057	114286057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcctcaccttggtctgcCgggtgagcacttccctctgg	11	15	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr13:114286057C>T	uc001vtw.2	+	5	518	c.306C>T	c.(304-306)GCC>GCT	p.A102A	TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Silent_p.A102A|TFDP1_uc001vtx.2_5'Flank|TFDP1_uc010agx.2_Silent_p.A102A	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	102					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTTGGTCTGCCGGGTGAGCAC	0.607										TSP Lung(29;0.18)			T	114286057	C	T	114286057	2	4	235	1	0	0	0	0	0	0	0	1	15794	639	23	1		1	TFDP1	13	114286057	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	484345	114286057	883821	1018	118611											
OR4Q3	441669	broad.mit.edu	37	chr14	20216140	20216140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactgtgatgtcccacaagTcatcaagctggcctgcatgg	10	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:20216140T>C	uc010tkt.1	+	1	554	c.554T>C	c.(553-555)GTC>GCC	p.V185A		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCCCACAAGTCATCAAGCTG	0.493													C	20216140	T	C	20216140	3	2	235	1	0	0	0	0	1	0	0	0	11081	1667	58	3	556	3	OR4Q3	14	20216140	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08		20216140	87133400	1019	118612											
FLJ10357	55701	broad.mit.edu	37	chr14	21549846	21549846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgcgagaatggggccGctgccaggcccgctgccaag	15	15	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:21549846G>A	uc001vzp.2	+	14	2848	c.2819G>A	c.(2818-2820)CGC>CAC	p.R940H	FLJ10357_uc001vzo.1_Missense_Mutation_p.R19H|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R226H	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	940	Potential.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GAATGGGGCCGCTGCCAGGCC	0.731													A	21549846	G	A	21549846	3	1	235	1	0	0	0	0	1	0	0	0	5926	1087	38	1	2873	1	FLJ10357	14	21549846	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1333706	21549846	85799694	1020	118613											
ACIN1	22985	broad.mit.edu	37	chr14	23530627	23530627	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcccattcacgctctgatcGagtccgctcccgccgctcca	7	19	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23530627G>A	uc001wit.3	-	17	3806	c.3478C>T	c.(3478-3480)CGA>TGA	p.R1160*	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Nonsense_Mutation_p.R402*|ACIN1_uc001wiq.3_Nonsense_Mutation_p.R402*|ACIN1_uc001wir.3_Nonsense_Mutation_p.R433*|ACIN1_uc001wis.3_Nonsense_Mutation_p.R841*|ACIN1_uc010akg.2_Nonsense_Mutation_p.R1147*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1160	Arg/Asp/Glu/Lys-rich.		R -> Q (in a colorectal cancer sample; somatic mutation).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.R1160Q(1)		ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGCTCTGATCGAGTCCGCTCC	0.647													A	23530627	G	A	23530627	4	1	235	1	0	0	0	0	0	1	0	0	142	1066	37	1	559	1	ACIN1	14	23530627	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1980781	23530627	83818913	1021	118614											
ACIN1	22985	broad.mit.edu	37	chr14	23530687	23530687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgttcccgcactgcccGttcctgctcccgctgctctg	8	20	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23530687G>A	uc001wit.3	-	17	3746	c.3418C>T	c.(3418-3420)CGG>TGG	p.R1140W	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R382W|ACIN1_uc001wiq.3_Missense_Mutation_p.R382W|ACIN1_uc001wir.3_Missense_Mutation_p.R413W|ACIN1_uc001wis.3_Missense_Mutation_p.R821W|ACIN1_uc010akg.2_Missense_Mutation_p.R1127W	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1140	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CGCACTGCCCGTTCCTGCTCC	0.662													A	23530687	G	A	23530687	3	1	235	1	0	0	0	0	1	0	0	0	142	1144	40	1	619	1	ACIN1	14	23530687	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	60	23530687	83818853	1022	118615											
SLC22A17	51310	broad.mit.edu	37	chr14	23817841	23817841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaactcccctgccaggGccacccgaagcctctgggtt	9	19	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23817841G>A	uc001wjl.2	-	4	622	c.566C>T	c.(565-567)GCC>GTC	p.A189V	SLC22A17_uc010akk.2_Intron|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Missense_Mutation_p.A189V|SLC22A17_uc010akl.1_3'UTR	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	189	Helical; (Potential).				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCTGCCAGGGCCACCCGAAG	0.502													A	23817841	G	A	23817841	3	1	235	1	0	0	0	0	1	0	0	0	14448	1203	42	2	1074	2	SLC22A17	14	23817841	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	287154	23817841	83531699	1023	118616											
SLC22A17	51310	broad.mit.edu	37	chr14	23821359	23821359	+	Frame_Shift_Del	DEL	G	G	-													gctcccagccagaggcattaGgggggaaggccccgtagtgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23821359delG	uc001wjl.2	-	1	121	c.65delC	c.(64-66)CCTfs	p.P22fs	SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Frame_Shift_Del_p.P22fs|SLC22A17_uc010akl.1_Frame_Shift_Del_p.P22fs	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	22					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGGCATTAGGGGGGAAGGC	0.701													-	23821359	G	-	23821359	7	5	235	1	0	1	0	1	0	0	0	0	14448	1000	35	0	1587	0	SLC22A17	14	23821359	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	3518	23821359	83528181	1024	118617											
EFS	10278	broad.mit.edu	37	chr14	23826481	23826481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtgaattgcagggcctgcCctgccagttctgttacacac	10	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23826481C>A	uc001wjo.2	-	6	2248	c.1640G>T	c.(1639-1641)GGG>GTG	p.G547V	EFS_uc001wjp.2_Missense_Mutation_p.G454V|EFS_uc010tnm.1_Missense_Mutation_p.G378V	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	547					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CAGGGCCTGCCCTGCCAGTTC	0.612													A	23826481	C	A	23826481	3	1	235	1	0	0	0	0	1	0	0	0	4959	623	22	5	49	5	EFS	14	23826481	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5122	23826481	83523059	1025	118618											
CMTM5	116173	broad.mit.edu	37	chr14	23847614	23847614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctctgcctacatggcCgcggcgctactggagttctt	10	14	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:23847614C>T	uc010akm.2	+	2	627	c.183C>T	c.(181-183)GCC>GCT	p.A61A	CMTM5_uc001wjs.2_Silent_p.A61A|CMTM5_uc001wjt.2_Silent_p.A61A|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	61	Helical; (Potential).|MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCTACATGGCCGCGGCGCTAC	0.567													T	23847614	C	T	23847614	2	4	235	1	0	0	0	0	0	0	0	1	3586	639	23	1		1	CMTM5	14	23847614	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	21133	23847614	83501926	1026	118619											
THTPA	79178	broad.mit.edu	37	chr14	24026212	24026213	+	Frame_Shift_Del	DEL	CA	CA	-													cacacggagtataaggaactCacagcggaacctacaattgt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24026212_24026213delCA	uc001wkh.3	+	2	616_617	c.246_247delCA	c.(244-249)CTCACAfs	p.L82fs	THTPA_uc001wkb.3_Intron|THTPA_uc001wkg.3_Frame_Shift_Del_p.L82fs|THTPA_uc010akr.2_Intron|THTPA_uc001wki.3_Frame_Shift_Del_p.L82fs	NM_001126339	NP_001119811	Q9BU02	THTPA_HUMAN	thiamine triphosphatase	82_83					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity				0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	ATAAGGAACTCACAGCGGAACC	0.604													-	24026213	CA	-	24026212	7	5	235	1	0	1	0	1	0	0	0	0	15878	813	29	0	248	0	THTPA	14	24026212	Frame_Shift_Del	DEL	CA	TCGA-F1-6177-01A-11D-1800-08	178598	24026212	83323328	1027	118620											
AP1G2	8906	broad.mit.edu	37	chr14	24032709	24032709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcccgcacatgggtgccCgcctggaaggtgtgggcatg	15	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24032709C>T	uc001wkl.2	-	14	1627	c.1290G>A	c.(1288-1290)GCG>GCA	p.A430A	AP1G2_uc001wkj.2_Silent_p.A49A|AP1G2_uc001wkk.3_Silent_p.A358A|AP1G2_uc001wkn.2_Silent_p.A49A|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Silent_p.A430A	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	430					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CATGGGTGCCCGCCTGGAAGG	0.617											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	24032709	C	T	24032709	2	4	235	1	0	0	0	0	0	0	0	1	733	639	23	1		1	AP1G2	14	24032709	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6497	24032709	83316831	1028	118621											
DHRS4L1	728635	broad.mit.edu	37	chr14	24518539	24518539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcatgaaagaaaccctgCggataagaaggtaaactgtc	10	7	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24518539C>T	uc010alc.2	+	9	721	c.721C>T	c.(721-723)CGG>TGG	p.R241W	DHRS4L1_uc010tnu.1_RNA|LRRC16B_uc001wlj.2_5'Flank	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	241							binding|oxidoreductase activity				0						AGAAACCCTGCGGATAAGAAG	0.423													T	24518539	C	T	24518539	3	4	235	1	0	0	0	0	1	0	0	0	4493	759	27	1	755	1	DHRS4L1	14	24518539	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	485830	24518539	82831001	1029	118622											
IPO4	79711	broad.mit.edu	37	chr14	24652846	24652846	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggtgtcttccttctcAtcgaagaaggcattctccac	8	13	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24652846A>G	uc001wmv.1	-	20	2144	c.2013T>C	c.(2011-2013)GAT>GAC	p.D671D	IPO4_uc001wmt.1_Silent_p.D149D|IPO4_uc001wmu.2_Silent_p.D333D|IPO4_uc001wmx.1_Silent_p.D535D|IPO4_uc001wmy.1_Silent_p.D535D|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.D671D	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	671					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		CTTCCTTCTCATCGAAGAAGG	0.567													G	24652846	A	G	24652846	2	3	235	1	0	0	0	0	0	0	0	1	7795	214	8	3		3	IPO4	14	24652846	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	134307	24652846	82696694	1030	118623											
NFATC4	4776	broad.mit.edu	37	chr14	24839091	24839092	+	Frame_Shift_Ins	INS	-	-	G													agaagcagggggccagggtgINSggggggccttcttcagccca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:24839090_24839091T>TG	uc001wpc.3	+	1	807_808	c.486_487T>TG	c.(484-489)ggtgggfs	p.G162fs	NFATC4_uc010alr.3_Frame_Shift_Ins_p.G225fs|NFATC4_uc010tok.2_Frame_Shift_Ins_p.G225fs|NFATC4_uc010tol.2_Frame_Shift_Ins_p.G225fs|NFATC4_uc010als.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010too.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010tom.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010ton.2_Frame_Shift_Ins_p.G175fs|NFATC4_uc010toq.2_Frame_Shift_Ins_p.G194fs|NFATC4_uc010alt.3_Frame_Shift_Ins_p.G194fs|NFATC4_uc010top.2_Frame_Shift_Ins_p.G194fs|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Frame_Shift_Ins_p.G162fs|NFATC4_uc010tos.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc010tot.2_Frame_Shift_Ins_p.G150fs|NFATC4_uc010tou.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc010tov.2_Frame_Shift_Ins_p.G150fs|NFATC4_uc010tow.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc010alv.3_Frame_Shift_Ins_p.G150fs|NFATC4_uc010tox.2_Frame_Shift_Ins_p.G92fs|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	162	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	p.A165fs*23(1)		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)		GGGGCCAGGGTGGGGGGGCCTT	0.649													G	24839092	-	G	24839091	7	5	235	1	0	1	1	0	0	0	0	0	10365	1348	47	0	686	0	NFATC4	14	24839091	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	186245	24839091	82510449	1031	118624											
INSM2	84684	broad.mit.edu	37	chr14	36004942	36004942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgtggcatgctgtccGcgaggagctgctcctgcccg	15	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:36004942G>A	uc001wth.1	+	1	1695	c.1484G>A	c.(1483-1485)CGC>CAC	p.R495H		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	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)		CATGCTGTCCGCGAGGAGCTG	0.647													A	36004942	G	A	36004942	3	1	235	1	0	0	0	0	1	0	0	0	7772	1087	38	1	1486	1	INSM2	14	36004942	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	11165851	36004942	71344598	1032	118625											
SSTR1	6751	broad.mit.edu	37	chr14	38678848	38678848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatctacgtgatcctgcGctatgccaagatgaagacgg	12	10	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:38678848G>A	uc001wul.1	+	3	871	c.254G>A	c.(253-255)CGC>CAC	p.R85H	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	85	Cytoplasmic (Potential).				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			central_nervous_system(3)|ovary(1)|lung(1)	5	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													A	38678848	G	A	38678848	3	1	235	1	0	0	0	0	1	0	0	0	15196	1087	38	1	256	1	SSTR1	14	38678848	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2673906	38678848	68670692	1033	118626											
SSTR1	6751	broad.mit.edu	37	chr14	38679088	38679088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgcatcccatcaaggCggcccgctaccgccggccca	12	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:38679088C>T	uc001wul.1	+	3	1111	c.494C>T	c.(493-495)GCG>GTG	p.A165V	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	165	Cytoplasmic (Potential).				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			central_nervous_system(3)|ovary(1)|lung(1)	5	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)	CCCATCAAGGCGGCCCGCTAC	0.632													T	38679088	C	T	38679088	3	4	235	1	0	0	0	0	1	0	0	0	15196	768	27	1	496	1	SSTR1	14	38679088	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	240	38679088	68670452	1034	118627											
SEC23A	10484	broad.mit.edu	37	chr14	39565189	39565189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtcaggtctctctttcAgtggtgtaaacagggctgcc	12	9	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:39565189A>G	uc001wup.1	-	2	357	c.134T>C	c.(133-135)CTG>CCG	p.L45P	SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Missense_Mutation_p.L45P	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	45					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			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCTCTCTTTCAGTGGTGTAAA	0.433													G	39565189	A	G	39565189	3	3	235	1	0	0	0	0	1	0	0	0	13991	188	7	3	2239	3	SEC23A	14	39565189	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	886101	39565189	67784351	1035	118628											
PYGL	5836	broad.mit.edu	37	chr14	51381427	51381427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagttacctctgctaTgagctctgcaagtcctgggt	9	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:51381427T>C	uc001wyu.2	-	12	1637	c.1510A>G	c.(1510-1512)ATA>GTA	p.I504V	PYGL_uc010tqq.1_Missense_Mutation_p.I470V|PYGL_uc001wyv.2_Missense_Mutation_p.I178V	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	504					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			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACCTCTGCTATGAGCTCTGCA	0.473													C	51381427	T	C	51381427	3	2	235	1	0	0	0	0	1	0	0	0	12861	1464	51	3	1069	3	PYGL	14	51381427	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	11816238	51381427	55968113	1036	118629											
PTGDR	5729	broad.mit.edu	37	chr14	52734813	52734813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagaaccggagtctgcGggtgcttgcgcccgcattgg	15	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:52734813G>T	uc001wzq.2	+	1	383	c.281G>T	c.(280-282)CGG>CTG	p.R94L		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	94	Extracellular (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGGAGTCTGCGGGTGCTTGCG	0.602													T	52734813	G	T	52734813	3	4	235	1	0	0	0	0	1	0	0	0	12741	1116	39	5	283	5	PTGDR	14	52734813	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1353386	52734813	54614727	1037	118630											
PTGER2	5732	broad.mit.edu	37	chr14	52781670	52781670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccatggccctggagcgctAcctctcgatcgggcacccct	11	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:52781670A>G	uc001wzr.2	+	1	655	c.404A>G	c.(403-405)TAC>TGC	p.Y135C		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	135	Cytoplasmic (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CTGGAGCGCTACCTCTCGATC	0.657													G	52781670	A	G	52781670	3	3	235	1	0	0	0	0	1	0	0	0	12743	391	14	3	406	3	PTGER2	14	52781670	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	46857	52781670	54567870	1038	118631											
BMP4	652	broad.mit.edu	37	chr14	54418739	54418739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggctgcgggcggcggcGcagcccaaacatctgcagaa	15	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:54418739G>A	uc001xal.3	-	2	389	c.202C>T	c.(202-204)CGC>TGC	p.R68C	BMP4_uc010aoh.2_Missense_Mutation_p.R68C|BMP4_uc001xao.3_Missense_Mutation_p.R68C|BMP4_uc001xan.3_Missense_Mutation_p.R68C	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	68					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				0						GGGCGGCGGCGCAGCCCAAAC	0.637													A	54418739	G	A	54418739	3	1	235	1	0	0	0	0	1	0	0	0	1462	1087	38	1	1032	1	BMP4	14	54418739	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1637069	54418739	52930801	1039	118632											
LGALS3	3958	broad.mit.edu	37	chr14	55605002	55605003	+	Frame_Shift_Ins	INS	-	-	G													cagggccacccagcggccctINSggggcctacccatcttctgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:55605002_55605003insG	uc001xbr.2	+	3	409_410	c.258_259insG	c.(256-261)CCTGGGfs	p.P86fs		NM_002306	NP_002297	P17931	LEG3_HUMAN	galectin 3	86_87	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.|6; approximate.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding				0						CCAGCGGCCCTGGGGCCTACCC	0.658													G	55605003	-	G	55605002	7	5	235	1	0	1	1	0	0	0	0	0	8743	1567	55	0	264	0	LGALS3	14	55605002	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1186263	55605002	51744538	1040	118633	595	2									
LGALS3	3958	broad.mit.edu	37	chr14	55605003	55605004	+	Frame_Shift_Ins	INS	-	-	G													agggccacccagcggccctgINSgggcctacccatcttctgga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:55605002_55605003T>TG	uc001xbr.3	+	2	346_347	c.258_259T>TG	c.(256-261)cctgggfs	p.P86fs	LGALS3_uc021rtj.1_Frame_Shift_Ins_p.P86fs	NM_002306	NP_002297	P17931	LEG3_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 (LGALS3), transcript variant 1, mRNA.	86	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				RNA splicing|cell differentiation|innate immune response|mRNA processing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding	p.G85S(1)		central_nervous_system(1)|endometrium(1)|prostate(1)	3						CCAGCGGCCCTGGGGCCTACCC	0.658													G	55605004	-	G	55605003	7	5	235	1	0	1	1	0	0	0	0	0	8743	1348	47	0	265	0	LGALS3	14	55605003	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	55605003	51744537	1041	118634	595	2									
ACTR10	55860	broad.mit.edu	37	chr14	58690342	58690342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttcttccttaaagcgCgtacttgctttgtaagtgat	7	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:58690342C>T	uc001xdf.2	+	9	740	c.637C>T	c.(637-639)CGT>TGT	p.R213C	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.R15C|ACTR10_uc001xdh.2_Missense_Mutation_p.R15C|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.R3C	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	213						cytoplasm				central_nervous_system(1)	1						CCTTAAAGCGCGTACTTGCTT	0.338													T	58690342	C	T	58690342	3	4	235	1	0	0	0	0	1	0	0	0	208	768	27	1	671	1	ACTR10	14	58690342	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3085339	58690342	48659198	1042	118635											
RTN1	6252	broad.mit.edu	37	chr14	60070603	60070603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaggccattgaagagagCgccaacgtaggtcaggagcc	15	10	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:60070603C>T	uc001xen.1	-	6	2358	c.2149G>A	c.(2149-2151)GCT>ACT	p.A717T	RTN1_uc001xem.1_Missense_Mutation_p.A297T|RTN1_uc001xek.1_Missense_Mutation_p.A149T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.A134T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	717	Helical; (Potential).|Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGAAGAGAGCGCCAACGTAG	0.488													T	60070603	C	T	60070603	3	4	235	1	0	0	0	0	1	0	0	0	13725	768	27	1	197	1	RTN1	14	60070603	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1380261	60070603	47278937	1043	118636											
RTN1	6252	broad.mit.edu	37	chr14	60213015	60213015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggccgggtgtacccagCtcctcagggctctctgaaat	14	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:60213015C>T	uc001xen.1	-	2	635	c.426G>A	c.(424-426)GAG>GAA	p.E142E		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	142					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTGTACCCAGCTCCTCAGGGC	0.483													T	60213015	C	T	60213015	2	4	235	1	0	0	0	0	0	0	0	1	13725	796	28	2		2	RTN1	14	60213015	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	142412	60213015	47136525	1044	118637											
HIF1A	3091	broad.mit.edu	37	chr14	62187241	62187241	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcttgataaggcctctgtGatgaggcttaccatcagcta	9	10	3	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:62187241G>A	uc001xfq.2	+	2	581	c.177G>A	c.(175-177)GTG>GTA	p.V59V	HIF1A_uc010tsc.1_Intron|HIF1A_uc001xfr.2_Silent_p.V59V|HIF1A_uc001xfs.2_Silent_p.V60V	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	59	Interaction with TSGA10 (By similarity).|Helix-loop-helix motif.				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			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AGGCCTCTGTGATGAGGCTTA	0.413													A	62187241	G	A	62187241	2	1	235	1	0	0	0	0	0	0	0	1	7103	1277	45	4		4	HIF1A	14	62187241	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1974226	62187241	45162299	1045	118638											
SYNE2	23224	broad.mit.edu	37	chr14	64450478	64450478	+	Frame_Shift_Del	DEL	A	A	-													atgaacctgccactgatgatAaaaaaacaggatcagcccac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:64450478delA	uc001xgm.2	+	18	2255	c.2025delA	c.(2023-2025)ATAfs	p.I675fs	SYNE2_uc001xgl.2_Frame_Shift_Del_p.I675fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	675	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CACTGATGATAAAAAAACAGG	0.299													-	64450478	A	-	64450478	7	5	235	1	0	1	0	1	0	0	0	0	15443	352	13	0	2091	0	SYNE2	14	64450478	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	2263237	64450478	42899062	1046	118639											
SYNE2	23224	broad.mit.edu	37	chr14	64520260	64520260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagtattaaagctgtgaCtgctattgagaaacaaagag	11	4	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:64520260C>T	uc001xgm.2	+	48	9859	c.9629C>T	c.(9628-9630)ACT>ATT	p.T3210I	SYNE2_uc001xgl.2_Missense_Mutation_p.T3210I|SYNE2_uc010apw.1_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3210	Potential.|Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAGCTGTGACTGCTATTGAG	0.358													T	64520260	C	T	64520260	3	4	235	1	0	0	0	0	1	0	0	0	15443	565	20	4	9815	4	SYNE2	14	64520260	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	69782	64520260	42829280	1047	118640											
PCNX	22990	broad.mit.edu	37	chr14	71444749	71444750	+	Frame_Shift_Ins	INS	-	-	A													caggcaggagacgcacaggaINSaaaaaacgggctagcagttt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:71444748_71444749G>GA	uc001xmo.2	+	5	2140_2141	c.1694_1695G>GA	c.(1693-1695)ggafs	p.G565fs	PCNX_uc001xmn.4_Frame_Shift_Ins_p.G565fs|PCNX_uc010are.1_Frame_Shift_Ins_p.G565fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	565						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)		AGACGCACAGGAAAAAAACGGG	0.475													A	71444750	-	A	71444749	7	5	235	1	0	1	1	0	0	0	0	0	11591	233	9	0	1717	0	PCNX	14	71444749	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	6924489	71444749	35904791	1048	118641											
RBM25	58517	broad.mit.edu	37	chr14	73544119	73544119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttggaaagcatttgggcGcaagaaaggatcatccaggc	14	7	1	1	rs143840737	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:73544119G>A	uc001xno.2	+	4	407	c.199G>A	c.(199-201)GCA>ACA	p.A67T	RBM25_uc001xnn.3_Missense_Mutation_p.A67T|RBM25_uc010ttu.1_Missense_Mutation_p.A67T|RBM25_uc001xnp.2_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	67					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GCATTTGGGCGCAAGAAAGGA	0.378													A	73544119	G	A	73544119	3	1	235	1	0	0	0	0	1	0	0	0	13125	1087	38	1	209	1	RBM25	14	73544119	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2099370	73544119	33805421	1049	118642											
LTBP2	4053	broad.mit.edu	37	chr14	74970717	74970717	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgttgaggcaccggccgttCgggcagagaccaggcccgaa	16	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:74970717C>T	uc001xqa.2	-	31	4881	c.4494G>A	c.(4492-4494)CCG>CCA	p.P1498P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1498	EGF-like 17; 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			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACCGGCCGTTCGGGCAGAGAC	0.498													T	74970717	C	T	74970717	2	4	235	1	0	0	0	0	0	0	0	1	9074	871	31	1		1	LTBP2	14	74970717	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1426598	74970717	32378823	1050	118643											
KIAA0317	9870	broad.mit.edu	37	chr14	75151323	75151323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctgactacacgtgcgGcaagctcaaagaggaactta	12	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:75151323G>A	uc001xqb.2	-	4	582	c.77C>T	c.(76-78)GCC>GTC	p.A26V	KIAA0317_uc010tut.1_Intron|KIAA0317_uc001xqc.2_Missense_Mutation_p.A26V|KIAA0317_uc001xqd.1_Intron	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	26					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TACACGTGCGGCAAGCTCAAA	0.517													A	75151323	G	A	75151323	3	1	235	1	0	0	0	0	1	0	0	0	8167	1203	42	2	2462	2	KIAA0317	14	75151323	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	180606	75151323	32198217	1051	118644											
YLPM1	56252	broad.mit.edu	37	chr14	75277083	75277083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgttattgactatgacCgggatcgatttgacagagaa	13	5	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:75277083C>T	uc001xqj.3	+	9	5312	c.5188C>T	c.(5188-5190)CGG>TGG	p.R1730W	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R213W	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1535	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGACTATGACCGGGATCGATT	0.408													T	75277083	C	T	75277083	3	4	235	1	0	0	0	0	1	0	0	0	17483	643	23	1	5222	1	YLPM1	14	75277083	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	125760	75277083	32072457	1052	118645											
TMED10	10972	broad.mit.edu	37	chr14	75602475	75602475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcaccgttggtatcacGcatctcctcttctctcttct	4	18	7	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:75602475G>A	uc001xrm.1	-	4	593	c.526C>T	c.(526-528)CGT>TGT	p.R176C	TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_Missense_Mutation_p.R51C	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	176	Lumenal (Potential).|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				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGGTATCACGCATCTCCTCT	0.438													A	75602475	G	A	75602475	3	1	235	1	0	0	0	0	1	0	0	0	16000	1087	38	1	141	1	TMED10	14	75602475	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	325392	75602475	31747065	1053	118646											
ZDHHC22	283576	broad.mit.edu	37	chr14	77600151	77600151	+	Frame_Shift_Del	DEL	C	C	-													gggccgggccctcactgccaCccccttccgcacctggtggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:77600151delC	uc010asp.2	-	3	870	c.667delG	c.(667-669)GTGfs	p.V223fs		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	zinc finger, DHHC domain containing 22	223						integral to membrane	acyltransferase activity|zinc ion binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CTCACTGCCACCCCCTTCCGC	0.652													-	77600151	C	-	77600151	7	5	235	1	0	1	0	1	0	0	0	0	17610	507	18	0	128	0	ZDHHC22	14	77600151	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1997676	77600151	29749389	1054	118647											
GALC	2581	broad.mit.edu	37	chr14	88450866	88450866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagccatccagggaatgAccatggcaaccctgcagaga	10	14	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:88450866A>G	uc001xvt.2	-	5	853	c.454T>C	c.(454-456)TCA>CCA	p.S152P	GALC_uc010tvx.1_Missense_Mutation_p.S126P|GALC_uc010tvy.1_Missense_Mutation_p.S129P|GALC_uc010tvz.1_Missense_Mutation_p.S96P|GALC_uc001xvu.1_Missense_Mutation_p.S152P	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	152					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						CCAGGGAATGACCATGGCAAC	0.468													G	88450866	A	G	88450866	3	3	235	1	0	0	0	0	1	0	0	0	6201	275	10	3	1718	3	GALC	14	88450866	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	10850715	88450866	18898674	1055	118648											
CATSPERB	79820	broad.mit.edu	37	chr14	92047403	92047403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactaccgctgttgccacggCaataagcgtgtgtcctggga	12	12	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:92047403C>T	uc001xzs.1	-	27	3321	c.3181G>A	c.(3181-3183)GCC>ACC	p.A1061T	CATSPERB_uc010aub.1_Missense_Mutation_p.A583T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	1061	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTTGCCACGGCAATAAGCGTG	0.418													T	92047403	C	T	92047403	3	4	235	1	0	0	0	0	1	0	0	0	2691	710	25	2	173	2	CATSPERB	14	92047403	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3596537	92047403	15302137	1056	118649											
SERPINA3	12	broad.mit.edu	37	chr14	95058423	95058423	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctgtggtggaggtggaCgagtcgggaaccagagcagc	18	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:95058423C>T	uc001ydo.3	+	1	29	c.-859C>T	c.(-861--857)GACGA>GATGA		SERPINA5_uc001ydm.2_Silent_p.D356D	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3						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			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGGAGGTGGACGAGTCGGGAA	0.572													T	95058423	C	T	95058423	1	4	235	1	0	0	0	0	0	0	0	0	14090	535	19	1		1	SERPINA3	14	95058423	Translation_Start_Site	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3011020	95058423	12291117	1057	118650											
SERPINA3	12	broad.mit.edu	37	chr14	95080920	95080920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggacacacgtggacctcGgattagcctccgccaacgtg	13	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:95080920G>A	uc001ydp.2	+	2	221	c.142G>A	c.(142-144)GGA>AGA	p.G48R	SERPINA3_uc001ydo.3_Missense_Mutation_p.G73R|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.G48R|SERPINA3_uc001yds.2_Missense_Mutation_p.G48R|SERPINA3_uc010avg.2_Missense_Mutation_p.G48R	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	48					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			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CGTGGACCTCGGATTAGCCTC	0.567													A	95080920	G	A	95080920	3	1	235	1	0	0	0	0	1	0	0	0	14090	1117	39	1	144	1	SERPINA3	14	95080920	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	22497	95080920	12268620	1058	118651											
AK7	122481	broad.mit.edu	37	chr14	96875210	96875211	+	Frame_Shift_Ins	INS	-	-	A													tgaagaagtcagccactttgINSaaaagcgaaagctatttatt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:96875210_96875211insA	uc001yfn.2	+	4	474_475	c.430_431insA	c.(430-432)GAAfs	p.E144fs		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	144	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGCCACTTTGAAAAGCGAAAG	0.46													A	96875211	-	A	96875210	7	5	235	1	0	1	1	0	0	0	0	0	444	1291	45	0	444	0	AK7	14	96875210	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1794290	96875210	10474330	1059	118652	596	2									
AK7	122481	broad.mit.edu	37	chr14	96875211	96875212	+	Frame_Shift_Ins	INS	-	-	A													gaagaagtcagccactttgaINSaaagcgaaagctatttattt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:96875210_96875211G>GA	uc001yfn.2	+	3	474_475	c.430_431G>GA	c.(430-432)gaafs	p.E144fs		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	144					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGCCACTTTGAAAAGCGAAAG	0.46													A	96875212	-	A	96875211	7	5	235	1	0	1	1	0	0	0	0	0	444	246	9	0	445	0	AK7	14	96875211	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	96875211	10474329	1060	118653	596	2									
C14orf68	283600	broad.mit.edu	37	chr14	100795725	100795725	+	Frame_Shift_Del	DEL	G	G	-													tcccgggcgtgctggtggccGggggctgtgcaggagtcctg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:100795725delG	uc001yhc.2	+	6	743	c.670delG	c.(670-672)GGGfs	p.G224fs	C14orf68_uc001yhd.2_Frame_Shift_Del_p.G78fs	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	224	Helical; Name=5; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GCTGGTGGCCGGGGGCTGTGC	0.697													-	100795725	G	-	100795725	7	5	235	1	0	1	0	1	0	0	0	0	1778	1116	39	0	692	0	C14orf68	14	100795725	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	3920514	100795725	6553815	1061	118654											
DYNC1H1	1778	broad.mit.edu	37	chr14	102476416	102476416	+	Frame_Shift_Del	DEL	T	T	-													ttgccaacaaaatcgtcccgTtttttaagtaagtagcctag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:102476416delT	uc001yks.2	+	30	6378	c.6214delT	c.(6214-6216)TTTfs	p.F2072fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2072	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AATCGTCCCGTTTTTTAAGTA	0.413													-	102476416	T	-	102476416	7	5	235	1	0	1	0	1	0	0	0	0	4841	1725	60	0	6332	0	DYNC1H1	14	102476416	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	1680691	102476416	4873124	1062	118655											
HSP90AA1	3320	broad.mit.edu	37	chr14	102550309	102550309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctccgagtctaccacccCtctaatgaagtctgaaaaaa	5	13	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:102550309C>A	uc001yku.3	-	7	1349	c.1159G>T	c.(1159-1161)GGG>TGG	p.G387W	HSP90AA1_uc001ykv.3_Missense_Mutation_p.G509W|HSP90AA1_uc001ykw.1_Missense_Mutation_p.G208W|HSP90AA1_uc001ykx.1_Missense_Mutation_p.G376W	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	387					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			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	TCTACCACCCCTCTAATGAAG	0.368													A	102550309	C	A	102550309	3	1	235	1	0	0	0	0	1	0	0	0	7401	681	24	5	1059	5	HSP90AA1	14	102550309	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	73893	102550309	4799231	1063	118656											
KIF26A	26153	broad.mit.edu	37	chr14	104642584	104642584	+	Frame_Shift_Del	DEL	G	G	-													cctgccctggatggttccctGggggatggaagctctgggtt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:104642584delG	uc001yos.3	+	12	3459	c.3459delG	c.(3457-3459)CTGfs	p.L1153fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1153					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ATGGTTCCCTGGGGGATGGAA	0.711													-	104642584	G	-	104642584	7	5	235	1	0	1	0	1	0	0	0	0	8294	1335	47	0	3505	0	KIF26A	14	104642584	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	2092275	104642584	2706956	1064	118657											
TMEM121	80757	broad.mit.edu	37	chr14	105995483	105995483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcggcgcggcgcggcgcGgcggaccccgtggcgcgcaa	20	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr14:105995483G>A	uc001yrp.1	+	2	463	c.312G>A	c.(310-312)GCG>GCA	p.A104A	ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	hole protein	104						integral to membrane					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		ggcgcggcgcggcgGACCCCG	0.537													A	105995483	G	A	105995483	2	1	235	1	0	0	0	0	0	0	0	1	16032	1103	39	1		1	TMEM121	14	105995483	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1352899	105995483	1354057	1065	118658											
C15orf2	23742	broad.mit.edu	37	chr15	24923884	24923884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatatactgcattgggcaCacctgttaatgctgagccag	9	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:24923884C>T	uc001ywo.2	+	1	3344	c.2870C>T	c.(2869-2871)ACA>ATA	p.T957I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	957					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCATTGGGCACACCTGTTAAT	0.488													T	24923884	C	T	24923884	3	4	235	1	0	0	0	0	1	0	0	0	1784	478	17	4	2872	4	C15orf2	15	24923884	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		24923884	77607508	1066	118659											
ATP10A	57194	broad.mit.edu	37	chr15	25947181	25947181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccaaatctgcaggcccGcttgacgcaatttagaaata	8	11	1	2	rs142704035		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:25947181G>A	uc010ayu.2	-	13	2748	c.2642C>T	c.(2641-2643)GCG>GTG	p.A881V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	881	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CTGCAGGCCCGCTTGACGCAA	0.532													A	25947181	G	A	25947181	3	1	235	1	0	0	0	0	1	0	0	0	1116	1087	38	1	1893	1	ATP10A	15	25947181	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1023297	25947181	76584211	1067	118660											
OCA2	4948	broad.mit.edu	37	chr15	28090178	28090178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacacgacgtttgccgacgCgccaatcagtgtcccgttac	9	15	1	0	rs142988897	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:28090178C>T	uc001zbh.3	-	23	2469	c.2359G>A	c.(2359-2361)GCG>ACG	p.A787T	OCA2_uc010ayv.2_Missense_Mutation_p.A763T	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	787	Extracellular (Potential).		A -> V (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			ovary(3)|breast(1)|pancreas(1)	5		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)		TTTGCCGACGCGCCAATCAGT	0.388									Oculocutaneous_Albinism				T	28090178	C	T	28090178	3	4	235	1	0	0	0	0	1	0	0	0	10815	768	27	1	165	1	OCA2	15	28090178	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2142997	28090178	74441214	1068	118661											
HERC2	8924	broad.mit.edu	37	chr15	28437288	28437288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacggccacaaaataccGcagactgacctatttcgtga	8	12	0	4	rs61755662	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:28437288G>A	uc001zbj.2	-	53	8376	c.8270C>T	c.(8269-8271)GCG>GTG	p.A2757V	HERC2_uc001zbk.1_Missense_Mutation_p.A292V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2757					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		ACAAAATACCGCAGACTGACC	0.473											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	28437288	G	A	28437288	3	1	235	1	0	0	0	0	1	0	0	0	7058	1087	38	1	6398	1	HERC2	15	28437288	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	347110	28437288	74094104	1069	118662											
HERC2	8924	broad.mit.edu	37	chr15	28493767	28493767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataagcaaacgttgaaaacGcagtaacaaatccaatgaag	7	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:28493767G>A	uc001zbj.2	-	21	3272	c.3166C>T	c.(3166-3168)CGT>TGT	p.R1056C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1056					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CGTTGAAAACGCAGTAACAAA	0.388													A	28493767	G	A	28493767	3	1	235	1	0	0	0	0	1	0	0	0	7058	1087	38	1	11630	1	HERC2	15	28493767	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	56479	28493767	74037625	1070	118663											
APBA2	321	broad.mit.edu	37	chr15	29397613	29397613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccagtctatcggccaggCcttcagcgtggcctaccagg	12	16	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:29397613C>T	uc001zck.2	+	10	1763	c.1556C>T	c.(1555-1557)GCC>GTC	p.A519V	APBA2_uc010azj.2_Missense_Mutation_p.A507V|APBA2_uc010uat.1_Missense_Mutation_p.A507V|APBA2_uc001zcl.2_Missense_Mutation_p.A507V	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	519	PID.				nervous system development|protein transport		protein binding				0		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)		ATCGGCCAGGCCTTCAGCGTG	0.627													T	29397613	C	T	29397613	3	4	235	1	0	0	0	0	1	0	0	0	757	739	26	2	1586	2	APBA2	15	29397613	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	903846	29397613	73133779	1071	118664											
TJP1	7082	broad.mit.edu	37	chr15	30001145	30001145	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgagcagtatcttctcGgtttggtggtctgaaagttg	13	7	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:30001145G>A	uc001zcr.2	-	25	4943	c.4468C>T	c.(4468-4470)CGA>TGA	p.R1490*	TJP1_uc010azl.2_Nonsense_Mutation_p.R1478*|TJP1_uc001zcq.2_Nonsense_Mutation_p.R1414*|TJP1_uc001zcs.2_Nonsense_Mutation_p.R1410*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1490					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		GTATCTTCTCGGTTTGGTGGT	0.443													A	30001145	G	A	30001145	4	1	235	1	0	0	0	0	0	1	0	0	15926	1124	39	1	794	1	TJP1	15	30001145	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	603532	30001145	72530247	1072	118665											
TJP1	7082	broad.mit.edu	37	chr15	30010706	30010706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaccatggagaggctcaaAatgacctgctctagaggtaa	11	9	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:30010706A>C	uc001zcr.2	-	21	4115	c.3640T>G	c.(3640-3642)TTT>GTT	p.F1214V	TJP1_uc010azl.2_Missense_Mutation_p.F1202V|TJP1_uc001zcq.2_Missense_Mutation_p.F1138V|TJP1_uc001zcs.2_Missense_Mutation_p.F1134V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1214					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		AGAGGCTCAAAATGACCTGCT	0.522													C	30010706	A	C	30010706	3	2	235	1	0	0	0	0	1	0	0	0	15926	14	1	5	1638	5	TJP1	15	30010706	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	9561	30010706	72520686	1073	118666											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659642	30659642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgggcatcttgcccccGtcggggtcgtggtggtggta	16	11	1	0	rs149651405		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:30659642G>A	uc001zdt.1	-	9	1265	c.699C>T	c.(697-699)GAC>GAT	p.D233D	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.D142D|CHRFAM7A_uc010azn.2_Silent_p.D142D	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN	CHRNA7-FAM7A fusion isoform 1	233						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			skin(1)	1		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTTGCCCCCGTCGGGGTCGT	0.587													A	30659642	G	A	30659642	2	1	235	1	0	0	0	0	0	0	0	1	3375	1136	40	1		1	CHRFAM7A	15	30659642	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	648936	30659642	71871750	1074	118667											
MTMR10	54893	broad.mit.edu	37	chr15	31233850	31233850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggtgagggccgctggcGttgaagtacatcctgctctg	16	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:31233850G>A	uc001zfh.1	-	16	2255	c.2157C>T	c.(2155-2157)AAC>AAT	p.N719N	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Silent_p.N133N|MTMR10_uc001zfg.1_Silent_p.N300N|MTMR10_uc010azx.1_Silent_p.N471N|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	719							phosphatase activity			ovary(1)	1		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)		GGCCGCTGGCGTTGAAGTACA	0.587													A	31233850	G	A	31233850	2	1	235	1	0	0	0	0	0	0	0	1	9939	1136	40	1		1	MTMR10	15	31233850	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	574208	31233850	71297542	1075	118668											
TRPM1	4308	broad.mit.edu	37	chr15	31294935	31294936	+	Frame_Shift_Ins	INS	-	-	T													ctttatacggaaggaacaggINStttttttcctgactcctgtc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:31294935_31294936insT	uc001zfm.2	-	27	4029_4030	c.3901_3902insA	c.(3901-3903)ACCfs	p.T1301fs	TRPM1_uc010azy.2_Frame_Shift_Ins_p.T1208fs|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1301	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		GAAGGAACAGGTTTTTTTCCTG	0.446													T	31294936	-	T	31294935	7	5	235	1	0	1	1	0	0	0	0	0	16582	1261	44	0	913	0	TRPM1	15	31294935	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	61085	31294935	71236457	1076	118669	597	2									
TRPM1	4308	broad.mit.edu	37	chr15	31294936	31294937	+	Frame_Shift_Ins	INS	-	-	T													tttatacggaaggaacaggtINSttttttcctgactcctgtcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:31294935_31294936G>GT	uc021sia.1	-	26	4332_4333	c.4018_4019C>AC	c.(4018-4020)accfs	p.T1340fs	TRPM1_uc010azy.3_Frame_Shift_Ins_p.T1208fs|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Frame_Shift_Ins_p.T1323fs|TRPM1_uc001zfm.3_Frame_Shift_Ins_p.T1301fs	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1301					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)		GAAGGAACAGGTTTTTTTCCTG	0.446													T	31294937	-	T	31294936	7	5	235	1	0	1	1	0	0	0	0	0	16582	1725	60	0	914	0	TRPM1	15	31294936	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	31294936	71236456	1077	118670	597	2									
THBS1	7057	broad.mit.edu	37	chr15	39875816	39875817	+	Splice_Site	INS	-	-	G													atgtgtgtcctctgcccacaINSgggggtgctgcagaatgtga					rs112381547		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39875816_39875817insG	uc001zkh.2	+	4	807	c.628_splice	c.e4-1	p.G210_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor						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			ovary(3)|central_nervous_system(3)	6		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)	CTCTGCCCACAGGGGGTGCTGC	0.51											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	39875817	-	G	39875816	8	5	235	1	0	1	1	0	0	0	1	0	15850	202	7	0	636	0	THBS1	15	39875816	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	8580880	39875816	62655576	1078	118671	598	2									
THBS1	7057	broad.mit.edu	37	chr15	39875817	39875818	+	Splice_Site	INS	-	-	G													tgtgtgtcctctgcccacagINSggggtgctgcagaatgtgag					rs112381547		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39875816_39875817A>AG	uc001zkh.3	+	4	807	c.628_splice	c.e4-1	p.G210_splice		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	210	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|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)	CTCTGCCCACAGGGGGTGCTGC	0.51											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	39875818	-	G	39875817	8	5	235	1	0	1	1	0	0	0	1	0	15850	1014	35	0	637	0	THBS1	15	39875817	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	39875817	62655575	1079	118672	598	2									
THBS1	7057	broad.mit.edu	37	chr15	39885703	39885703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctaccagtccagcagccGcttttatgttgtgatgtgga	12	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39885703G>A	uc001zkh.2	+	19	3280	c.3101G>A	c.(3100-3102)CGC>CAC	p.R1034H	THBS1_uc010bbi.2_Missense_Mutation_p.R506H	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1034	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			ovary(3)|central_nervous_system(3)	6		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)	TCCAGCAGCCGCTTTTATGTT	0.502													A	39885703	G	A	39885703	3	1	235	1	0	0	0	0	1	0	0	0	15850	1087	38	1	3171	1	THBS1	15	39885703	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	9886	39885703	62645689	1080	118673											
FSIP1	161835	broad.mit.edu	37	chr15	39910098	39910098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtgtcactaataataaCgtccttggaaaattgaaggc	8	6	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:39910098C>T	uc001zki.2	-	11	1755	c.1537G>A	c.(1537-1539)GTT>ATT	p.V513I		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	513										ovary(2)|skin(1)	3		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)		CTAATAATAACGTCCTTGGAA	0.398													T	39910098	C	T	39910098	3	4	235	1	0	0	0	0	1	0	0	0	6074	536	19	1	216	1	FSIP1	15	39910098	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	24395	39910098	62621294	1081	118674											
INO80	54617	broad.mit.edu	37	chr15	41377755	41377755	+	Frame_Shift_Del	DEL	T	T	-													aagttcttcatctcttcgtcTttttttcttcacttttttca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:41377755delT	uc001zni.2	-	7	898	c.685delA	c.(685-687)AGAfs	p.R229fs	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	229	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.|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			ovary(2)|pancreas(1)|skin(1)	4						TCTCTTCGTCTTTTTTTCTTC	0.443													-	41377755	T	-	41377755	7	5	235	1	0	1	0	1	0	0	0	0	7746	1617	56	0	4105	0	INO80	15	41377755	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	1467657	41377755	61153637	1082	118675											
EHD4	30844	broad.mit.edu	37	chr15	42193061	42193061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaccatctccttcttggCgttgacacctgatatcttgc	8	13	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:42193061C>T	uc001zot.2	-	6	1471	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	470	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCCTTCTTGGCGTTGACACCT	0.587													T	42193061	C	T	42193061	3	4	235	1	0	0	0	0	1	0	0	0	4980	768	27	1	221	1	EHD4	15	42193061	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	815306	42193061	60338331	1083	118676											
TTBK2	146057	broad.mit.edu	37	chr15	43067849	43067849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacgggacacagcaggaacGcaaggcttatgcagcagagc	14	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43067849G>A	uc001zqo.2	-	13	1921	c.1482C>T	c.(1480-1482)TGC>TGT	p.C494C	TTBK2_uc010bcy.2_Silent_p.C425C	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	494					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		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)		CAGCAGGAACGCAAGGCTTAT	0.483													A	43067849	G	A	43067849	2	1	235	1	0	0	0	0	0	0	0	1	16674	1079	38	1		1	TTBK2	15	43067849	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	874788	43067849	59463543	1084	118677											
UBR1	197131	broad.mit.edu	37	chr15	43252855	43252856	+	Frame_Shift_Ins	INS	-	-	T													aaccaacctgaccacggtgtINSttttttgcttcaaacagttt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43252854_43252855G>GT	uc001zqq.3	-	42	4811_4812	c.4745_4746C>AC	c.(4744-4746)aacfs	p.N1582fs		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1582					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)		TGACCACGGTGTTTTTTTGCTT	0.401													T	43252856	-	T	43252855	7	5	235	1	0	1	1	0	0	0	0	0	16898	1725	60	0	524	0	UBR1	15	43252855	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	185006	43252855	59278537	1085	118678											
LCMT2	9836	broad.mit.edu	37	chr15	43622547	43622547	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaatgagcggtgcgcgGcgcgccgcgcccggaaccag	18	14	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43622547G>C	uc001zrg.2	-	1	345	c.141C>G	c.(139-141)CGC>CGG	p.R47R	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	47					tRNA processing		methyltransferase activity|protein binding				0		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)	GCGGTGCGCGGCGCGCCGCGC	0.706													C	43622547	G	C	43622547	2	2	235	1	0	0	0	0	0	0	0	1	8679	1190	42	5		5	LCMT2	15	43622547	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	369692	43622547	58908845	1086	118679											
MAP1A	4130	broad.mit.edu	37	chr15	43815948	43815948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagatccatgatgagccGgaggagcgcccagctccacc	14	13	0	3	rs142195148	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:43815948G>A	uc001zrt.2	+	4	2744	c.2277G>A	c.(2275-2277)CCG>CCA	p.P759P		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	759						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	ATGATGAGCCGGAGGAGCGCC	0.557													A	43815948	G	A	43815948	2	1	235	1	0	0	0	0	0	0	0	1	9227	1103	39	1		1	MAP1A	15	43815948	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	193401	43815948	58715444	1087	118680											
WDR76	79968	broad.mit.edu	37	chr15	44127282	44127282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcgggattgtcaccctaCgaaaggaagagactgaagaa	11	7	1	3	rs146443201	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:44127282C>T	uc001zti.1	+	3	509	c.486C>T	c.(484-486)TAC>TAT	p.Y162Y		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	162											0		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)		TGTCACCCTACGAAAGGAAGA	0.353													T	44127282	C	T	44127282	2	4	235	1	0	0	0	0	0	0	0	1	17323	547	19	1		1	WDR76	15	44127282	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	311334	44127282	58404110	1088	118681											
SPG11	80208	broad.mit.edu	37	chr15	44900713	44900713	+	Frame_Shift_Del	DEL	T	T	-													gcactgtgggaagagagcagTttttagcttggggtaaggag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:44900712_44900712GT>G	uc001ztx.3	-	18	3414	c.3383_3383AC>C	c.(3382-3384)actfs	p.T1128fs	SPG11_uc010ueh.2_Frame_Shift_Del_p.T1128fs|SPG11_uc010uei.2_Frame_Shift_Del_p.T1128fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1128					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)		GAAGAGAGCAGTTTTTAGCTT	0.403													-	44900713	T	-	44900713	7	5	235	1	0	1	0	1	0	0	0	0	15040	1725	60	0	4037	0	SPG11	15	44900713	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	773431	44900713	57630679	1089	118682											
B2M	567	broad.mit.edu	37	chr15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:45003781_45003782delCT	uc001zuc.2	+	1	97_98	c.37_38delCT	c.(37-39)CTCfs	p.L13fs	B2M_uc010uek.1_Frame_Shift_Del_p.L13fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L13fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	13					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			ovary(2)|skin(1)	3		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)		GCTCGCGCTACTCTCTCTTTCT	0.614													-	45003782	CT	-	45003781	7	5	235	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CT	TCGA-F1-6177-01A-11D-1800-08	103068	45003781	57527611	1090	118683											
COPS2	9318	broad.mit.edu	37	chr15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcttgtgactgcactccGaatataggtcaatagctgct	8	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:49431799G>A	uc001zxf.2	-	4	377	c.298C>T	c.(298-300)CGG>TGG	p.R100W	COPS2_uc001zxh.2_Missense_Mutation_p.R100W|COPS2_uc010ufa.1_Missense_Mutation_p.R36W	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	100					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313													A	49431799	G	A	49431799	3	1	235	1	0	0	0	0	1	0	0	0	3733	1057	37	1	1094	1	COPS2	15	49431799	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4428018	49431799	53099593	1091	118684											
AP4E1	23431	broad.mit.edu	37	chr15	51221320	51221321	+	Frame_Shift_Ins	INS	-	-	G													cactttgtgacagagatgttINSggggtcatggctgcctcctt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51221320_51221321insG	uc001zyx.1	+	6	687_688	c.657_658insG	c.(655-660)GTTGGGfs	p.V219fs	AP4E1_uc010ufi.1_Frame_Shift_Ins_p.V219fs|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	219_220					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACAGAGATGTTGGGGTCATGGC	0.342													G	51221321	-	G	51221320	7	5	235	1	0	1	1	0	0	0	0	0	752	1799	63	0	679	0	AP4E1	15	51221320	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1789521	51221320	51310072	1092	118685	599	2									
AP4E1	23431	broad.mit.edu	37	chr15	51221321	51221322	+	Frame_Shift_Ins	INS	-	-	G													actttgtgacagagatgttgINSgggtcatggctgcctccttg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51221320_51221321T>TG	uc001zyx.2	+	5	764_765	c.657_658T>TG	c.(655-660)gttgggfs	p.V219fs	AP4E1_uc021skz.1_Frame_Shift_Ins_p.V144fs|AP4E1_uc010ufi.2_Frame_Shift_Ins_p.V219fs|AP4E1_uc010ufj.2_Non-coding_Transcript|AP4E1_uc010ufk.2_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	219					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)		ACAGAGATGTTGGGGTCATGGC	0.342													G	51221322	-	G	51221321	7	5	235	1	0	1	1	0	0	0	0	0	752	1348	47	0	680	0	AP4E1	15	51221321	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	51221321	51310071	1093	118686	599	2									
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350305	51350305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggagagcacgttcctatCgaaggtgtattccacctcat	9	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51350305C>T	uc001zyy.2	-	3	752	c.652G>A	c.(652-654)GAT>AAT	p.D218N		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	218											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACGTTCCTATCGAAGGTGTAT	0.547													T	51350305	C	T	51350305	3	4	235	1	0	0	0	0	1	0	0	0	16276	884	31	1	230	1	TNFAIP8L3	15	51350305	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	128984	51350305	51181087	1094	118687											
GLDN	342035	broad.mit.edu	37	chr15	51696776	51696776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagatatgagggtcacatTtgcctttgatttgttaggag	11	5	1	3	rs145926803		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:51696776T>C	uc002aba.2	+	10	1650	c.1481T>C	c.(1480-1482)TTT>TCT	p.F494S	GLDN_uc002abb.2_Missense_Mutation_p.F370S	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	494	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGGGTCACATTTGCCTTTGAT	0.438													C	51696776	T	C	51696776	3	2	235	1	0	0	0	0	1	0	0	0	6434	1841	64	3	1519	3	GLDN	15	51696776	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	346471	51696776	50834616	1095	118688											
MYO5A	4644	broad.mit.edu	37	chr15	52680071	52680072	+	Frame_Shift_Del	DEL	TT	TT	-													tgttcttcaaaaacggtgtcTttattcttttcgagaaatcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:52680070_52680071CTT>C	uc002aby.2	-	13	1951_1952	c.1707_1708AAG>G	c.(1705-1710)aaagacfs	p.K569fs	MYO5A_uc002abx.3_Frame_Shift_Del_p.K569fs|MYO5A_uc010uge.1_Frame_Shift_Del_p.K438fs	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	569	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin 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)		AAAACGGTGTCTTTATTCTTTT	0.317													-	52680072	TT	-	52680071	7	5	235	1	0	1	0	1	0	0	0	0	10078	1606	56	0	3972	0	MYO5A	15	52680071	Frame_Shift_Del	DEL	TT	TCGA-F1-6177-01A-11D-1800-08	983295	52680071	49851321	1096	118689											
ONECUT1	3175	broad.mit.edu	37	chr15	53081088	53081088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagggtttggggttgcGcagcaggtccgagagggtcc	18	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:53081088G>A	uc002aci.1	-	1	1122	c.994C>T	c.(994-996)CGC>TGC	p.R332C		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	332	CUT.				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				0				all cancers(107;0.0708)		TTGGGGTTGCGCAGCAGGTCC	0.647													A	53081088	G	A	53081088	3	1	235	1	0	0	0	0	1	0	0	0	10868	1087	38	1	411	1	ONECUT1	15	53081088	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	401017	53081088	49450304	1097	118690											
LIPC	3990	broad.mit.edu	37	chr15	58724239	58724239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaacggagaaatggacaCaagtcccctgtgtttctcca	10	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:58724239C>T	uc010bga.1	+	3	616	c.8C>T	c.(7-9)ACA>ATA	p.T3I	LIPC_uc010bfz.1_Missense_Mutation_p.T3I|LIPC_uc002afa.1_Missense_Mutation_p.T3I|LIPC_uc010bgb.1_5'UTR|LIPC_uc010ugy.1_Missense_Mutation_p.T3I	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	3					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GAAATGGACACAAGTCCCCTG	0.453													T	58724239	C	T	58724239	3	4	235	1	0	0	0	0	1	0	0	0	8820	478	17	4	10	4	LIPC	15	58724239	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5643151	58724239	43807153	1098	118691											
VPS13C	54832	broad.mit.edu	37	chr15	62256915	62256915	+	Frame_Shift_Del	DEL	T	T	-													taccttttggcagagttgaaTttttttgttgtttttcagtt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:62256915delT	uc002agz.2	-	31	3271	c.3197delA	c.(3196-3198)AATfs	p.N1066fs	VPS13C_uc002aha.2_Frame_Shift_Del_p.N1023fs|VPS13C_uc002ahb.1_Frame_Shift_Del_p.N1066fs|VPS13C_uc002ahc.1_Frame_Shift_Del_p.N1023fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1066					protein localization					ovary(2)	2						CAGAGTTGAATTTTTTTGTTG	0.323													-	62256915	T	-	62256915	7	5	235	1	0	1	0	1	0	0	0	0	17188	1493	52	0	8312	0	VPS13C	15	62256915	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	3532676	62256915	40274477	1099	118692											
DENND4A	10260	broad.mit.edu	37	chr15	65954190	65954190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacacatacaaatacatctTaaagataaggttctccaaag	4	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:65954190T>C	uc002aph.2	-	32	5969	c.5591A>G	c.(5590-5592)TAA>TGA	p.*1864*	DENND4A_uc002api.2_Silent_p.*1907*	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AAATACATCTTAAAGATAAGG	0.323													C	65954190	T	C	65954190	2	2	235	1	0	0	0	0	0	0	0	1	4433	1761	61	3		3	DENND4A	15	65954190	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	3697275	65954190	36577202	1100	118693											
RPL4	6124	broad.mit.edu	37	chr15	66793741	66793741	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaaggccttgatgatAccattatcctcattatagat	6	8	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:66793741A>G	uc002apv.2	-	6	704	c.648T>C	c.(646-648)GGT>GGC	p.G216G	RPL4_uc010bhr.2_Silent_p.G122G|RPL4_uc002apw.2_Silent_p.G122G|RPL4_uc002apx.2_Silent_p.G122G|RPL4_uc010ujq.1_Silent_p.G216G|SNORD18C_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	216					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CCTTGATGATACCATTATCCT	0.438													G	66793741	A	G	66793741	2	3	235	1	0	0	0	0	0	0	0	1	13595	378	14	3		3	RPL4	15	66793741	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	839551	66793741	35737651	1101	118694											
IQCH	64799	broad.mit.edu	37	chr15	67664607	67664607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttttctctcttggaacaCgtcgagaagtttctcaggaa	8	8	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:67664607C>T	uc002aqo.1	+	9	959	c.912C>T	c.(910-912)CAC>CAT	p.H304H	IQCH_uc010ujv.1_Silent_p.H123H|IQCH_uc002aqn.1_Silent_p.H131H|IQCH_uc002aqq.1_Silent_p.H52H|IQCH_uc002aqp.1_Silent_p.H56H	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	304										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		TCTTGGAACACGTCGAGAAGT	0.393													T	67664607	C	T	67664607	2	4	235	1	0	0	0	0	0	0	0	1	7811	535	19	1		1	IQCH	15	67664607	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	870866	67664607	34866785	1102	118695											
PIAS1	8554	broad.mit.edu	37	chr15	68468059	68468059	+	Frame_Shift_Del	DEL	A	A	-													acttgggcaccgatgagatcAaaaaaggaagtacaggaagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:68468059delA	uc002aqz.2	+	10	1350	c.1254delA	c.(1252-1254)TCAfs	p.S418fs	PIAS1_uc002ara.2_Frame_Shift_Del_p.S26fs	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	418					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						CGATGAGATCAAAAAAGGAAG	0.408													-	68468059	A	-	68468059	7	5	235	1	0	1	0	1	0	0	0	0	11875	117	5	0	1292	0	PIAS1	15	68468059	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	803452	68468059	34063333	1103	118696											
ITGA11	22801	broad.mit.edu	37	chr15	68612614	68612614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccctgttctccagtgtgGcctccaccgccactcgctgg	10	19	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:68612614G>A	uc002ari.2	-	20	2612	c.2525C>T	c.(2524-2526)GCC>GTC	p.A842V	ITGA11_uc010bib.2_Missense_Mutation_p.A842V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	842	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CTCCAGTGTGGCCTCCACCGC	0.572													A	68612614	G	A	68612614	3	1	235	1	0	0	0	0	1	0	0	0	7874	1203	42	2	1085	2	ITGA11	15	68612614	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	144555	68612614	33918778	1104	118697											
KIF23	9493	broad.mit.edu	37	chr15	69709798	69709798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcaataatacaactgttcAgcttcatactcctgagggct	7	10	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:69709798A>G	uc002asb.2	+	3	275	c.158A>G	c.(157-159)CAG>CGG	p.Q53R	KIF23_uc002asc.2_Missense_Mutation_p.Q53R|KIF23_uc010bii.2_5'UTR|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	53	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				0						ACAACTGTTCAGCTTCATACT	0.413													G	69709798	A	G	69709798	3	3	235	1	0	0	0	0	1	0	0	0	8291	188	7	3	168	3	KIF23	15	69709798	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1097184	69709798	32821594	1105	118698											
NEO1	4756	broad.mit.edu	37	chr15	73585744	73585744	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacagctgtgattagtgcCcatcccatccattccctcga	6	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:73585744C>A	uc002avm.3	+	26	3898	c.3756C>A	c.(3754-3756)GCC>GCA	p.A1252A	NEO1_uc010ukx.1_Silent_p.A1241A|NEO1_uc010uky.1_Intron|NEO1_uc010ukz.1_Silent_p.A665A|NEO1_uc002avn.3_Silent_p.A890A	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1252	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TGATTAGTGCCCATCCCATCC	0.507													A	73585744	C	A	73585744	2	1	235	1	0	0	0	0	0	0	0	1	10336	610	22	5		5	NEO1	15	73585744	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3875946	73585744	28945648	1106	118699											
HCN4	10021	broad.mit.edu	37	chr15	73615907	73615907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggacgggctgctggCgggcgaggcggagcccagcg	20	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:73615907C>T	uc002avp.2	-	8	3521	c.2527G>A	c.(2527-2529)GCC>ACC	p.A843T		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	843	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGGCTGCTGGCGGGCGAGGCG	0.672													T	73615907	C	T	73615907	3	4	235	1	0	0	0	0	1	0	0	0	6999	768	27	1	1088	1	HCN4	15	73615907	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	30163	73615907	28915485	1107	118700											
STRA6	64220	broad.mit.edu	37	chr15	74488486	74488486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccaagaaatccacaGggctagcacagaggcaagga	11	13	0	2	rs118203961		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:74488486G>T	uc002axk.2	-	5	451	c.269C>A	c.(268-270)CCT>CAT	p.P90H	STRA6_uc002axi.2_Translation_Start_Site|STRA6_uc010ulh.1_Missense_Mutation_p.P128H|STRA6_uc002axj.2_Missense_Mutation_p.P129H|STRA6_uc010bji.2_Missense_Mutation_p.P90H|STRA6_uc002axl.2_Missense_Mutation_p.P22H|STRA6_uc002axm.2_Missense_Mutation_p.P90H|STRA6_uc002axn.2_Intron|STRA6_uc010uli.1_Missense_Mutation_p.P127H|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Missense_Mutation_p.P90H	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	90	Cytoplasmic (Potential).		P -> L (in MCOPS9).		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			central_nervous_system(1)	1						GAAATCCACAGGGCTAGCACA	0.602													T	74488486	G	T	74488486	3	4	235	1	0	0	0	0	1	0	0	0	15321	1000	35	5	1844	5	STRA6	15	74488486	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	872579	74488486	28042906	1108	118701											
CLK3	1198	broad.mit.edu	37	chr15	74911653	74911653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagactgcgatacccgtcccGaagggagcctcccccacgaa	11	16	0	1	rs150279637		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:74911653G>A	uc010uln.1	+	2	1021	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	CLK3_uc002ayg.3_Missense_Mutation_p.R39Q|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R187Q|CLK3_uc002ayj.3_Missense_Mutation_p.R39Q|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	187	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TACCCGTCCCGAAGGGAGCCT	0.592													A	74911653	G	A	74911653	3	1	235	1	0	0	0	0	1	0	0	0	3538	1058	37	1	566	1	CLK3	15	74911653	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	423167	74911653	27619739	1109	118702											
SGK269	79834	broad.mit.edu	37	chr15	77473380	77473380	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcagagacttgtttcGcagggggatggtattccatt	12	8	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:77473380G>A	uc002bcm.2	-	3	1197	c.889C>T	c.(889-891)CGA>TGA	p.R297*	SGK269_uc002bcn.2_Nonsense_Mutation_p.R297*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	297					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		GACTTGTTTCGCAGGGGGATG	0.443													A	77473380	G	A	77473380	4	1	235	1	0	0	0	0	0	1	0	0	14211	1095	38	1	4367	1	SGK269	15	77473380	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2561727	77473380	25058012	1110	118703											
CHRNB4	1143	broad.mit.edu	37	chr15	78921959	78921959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtagaacagaggcttgcGcttgatgatgaagtcgtaag	15	5	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:78921959G>A	uc002bed.1	-	5	800	c.688C>T	c.(688-690)CGC>TGC	p.R230C	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R48C	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	230	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						AGAGGCTTGCGCTTGATGATG	0.572													A	78921959	G	A	78921959	3	1	235	1	0	0	0	0	1	0	0	0	3393	1087	38	1	816	1	CHRNB4	15	78921959	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1448579	78921959	23609433	1111	118704											
AP3B2	8120	broad.mit.edu	37	chr15	83350299	83350299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggatgctagagaggacacGgagggcactggcacgaatca	15	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:83350299G>A	uc010uoh.1	-	5	571	c.394C>T	c.(394-396)CGT>TGT	p.R132C	AP3B2_uc010uoi.1_Missense_Mutation_p.R132C|AP3B2_uc010uoj.1_Missense_Mutation_p.R100C|AP3B2_uc010uog.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	132					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGGACACGGAGGGCACTG	0.582													A	83350299	G	A	83350299	3	1	235	1	0	0	0	0	1	0	0	0	745	1116	39	1	2866	1	AP3B2	15	83350299	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4428340	83350299	19181093	1112	118705											
AKAP13	11214	broad.mit.edu	37	chr15	86028977	86028977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaatccacagcaagctcCcttatatgtgagtaaatcat	5	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:86028977C>T	uc002blv.1	+	2	196	c.26C>T	c.(25-27)CCC>CTC	p.P9L	AKAP13_uc002bls.2_Missense_Mutation_p.P9L|AKAP13_uc002blt.1_Missense_Mutation_p.P9L|AKAP13_uc002blu.1_Missense_Mutation_p.P9L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	9					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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAGCAAGCTCCCTTATATGTG	0.333													T	86028977	C	T	86028977	3	4	235	1	0	0	0	0	1	0	0	0	449	623	22	4	28	4	AKAP13	15	86028977	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2678678	86028977	16502415	1113	118706											
ACAN	176	broad.mit.edu	37	chr15	89382169	89382169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggccatccccagtgacGccaccttggaagtccagagc	10	17	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:89382169G>A	uc010upo.1	+	3	720	c.346G>A	c.(346-348)GCC>ACC	p.A116T	ACAN_uc002bmx.2_Missense_Mutation_p.A116T|ACAN_uc010upp.1_Missense_Mutation_p.A116T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	116					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCAGTGACGCCACCTTGGA	0.627													A	89382169	G	A	89382169	3	1	235	1	0	0	0	0	1	0	0	0	117	1087	38	1	352	1	ACAN	15	89382169	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3353192	89382169	13149223	1114	118707											
SEMA4B	10509	broad.mit.edu	37	chr15	90771643	90771643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtgcaccccaagacctGccctgtggtgctgccccctg	11	18	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:90771643G>A	uc002boy.2	+	15	2565	c.2282G>A	c.(2281-2283)TGC>TAC	p.C761Y	SEMA4B_uc002boz.2_Missense_Mutation_p.C761Y|SEMA4B_uc010uqd.1_Missense_Mutation_p.C599Y|SEMA4B_uc002bpa.2_Missense_Mutation_p.C599Y|SEMA4B_uc010bnv.1_Intron	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	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)			CCCAAGACCTGCCCTGTGGTG	0.637													A	90771643	G	A	90771643	3	1	235	1	0	0	0	0	1	0	0	0	14032	1319	46	2	2336	2	SEMA4B	15	90771643	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1389474	90771643	11759749	1115	118708											
TTLL13	440307	broad.mit.edu	37	chr15	90796498	90796498	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcgtcgggcagcccaaAtgtgtggcctgaaggaggtg	17	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:90796498A>T	uc002bpd.1	+	4	604	c.316A>T	c.(316-318)ATG>TTG	p.M106L	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	106	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	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)			GGCAGCCCAAATGTGTGGCCT	0.552													T	90796498	A	T	90796498	3	4	235	1	0	0	0	0	1	0	0	0	16723	101	4	5	326	5	TTLL13	15	90796498	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	24855	90796498	11734894	1116	118709											
BLM	641	broad.mit.edu	37	chr15	91354578	91354578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaagaggaaaaagatgCcagcctcccaaaggtctaag	11	8	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:91354578C>A	uc002bpr.2	+	21	4115	c.4018C>A	c.(4018-4020)CCA>ACA	p.P1340T	BLM_uc010uqh.1_Missense_Mutation_p.P1340T|BLM_uc010uqi.1_Missense_Mutation_p.P965T|BLM_uc010bnx.2_Missense_Mutation_p.P1209T|BLM_uc002bpt.2_Missense_Mutation_p.P315T	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1340	Nuclear localization signal (Potential).				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			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAAAAAGATGCCAGCCTCCCA	0.463			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				A	91354578	C	A	91354578	3	1	235	1	0	0	0	0	1	0	0	0	1445	739	26	5	4096	5	BLM	15	91354578	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	558080	91354578	11176814	1117	118710											
ALDH1A3	220	broad.mit.edu	37	chr15	101440957	101440957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtcaaaacagaacaggGgcctcaggtaatccccctgg	11	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:101440957G>T	uc002bwn.3	+	9	1165	c.1061G>T	c.(1060-1062)GGG>GTG	p.G354V	ALDH1A3_uc010bpb.2_Missense_Mutation_p.G247V|uc002bwo.1_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	354					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	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)	ACAGAACAGGGGCCTCAGGTA	0.582													T	101440957	G	T	101440957	3	4	235	1	0	0	0	0	1	0	0	0	492	1232	43	5	1095	5	ALDH1A3	15	101440957	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10086379	101440957	1090435	1118	118711											
LRRK1	79705	broad.mit.edu	37	chr15	101529526	101529526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctacatcttgctggatagtCctgaccccagcaaacatctg	7	14	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr15:101529526C>T	uc002bwr.2	+	6	1004	c.685C>T	c.(685-687)CCT>TCT	p.P229S	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.P229S	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	229					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			GCTGGATAGTCCTGACCCCAG	0.473													T	101529526	C	T	101529526	3	4	235	1	0	0	0	0	1	0	0	0	9032	855	30	4	703	4	LRRK1	15	101529526	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	88569	101529526	1001866	1119	118712											
AXIN1	8312	broad.mit.edu	37	chr16	347983	347983	+	Frame_Shift_Del	DEL	C	C	-													tcccgtgccccgaggcggcaCcccccagtgccactggcatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:347983delC	uc002cgp.1	-	6	1700	c.1523delG	c.(1522-1524)GGTfs	p.G508fs	AXIN1_uc002cgq.1_Frame_Shift_Del_p.G508fs	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	508	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			breast(1)|liver(1)	2		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)				CGAGGCGGCACCCCCCAGTGC	0.706													-	347983	C	-	347983	7	5	235	1	0	1	0	1	0	0	0	0	1236	507	18	0	1089	0	AXIN1	16	347983	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08		347983	90006770	1120	118713											
AXIN1	8312	broad.mit.edu	37	chr16	396234	396234	+	Frame_Shift_Del	DEL	G	G	-													agcttctgagggagtcttccGgggggagcagcgtctctgcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:396234delG	uc002cgp.1	-	2	969	c.792delC	c.(790-792)CCCfs	p.P264fs	AXIN1_uc002cgq.1_Frame_Shift_Del_p.P264fs	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	264	Interaction with TP53 (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			breast(1)|liver(1)	2		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)				GGAGTCTTCCGGGGGGAGCAG	0.582													-	396234	G	-	396234	7	5	235	1	0	1	0	1	0	0	0	0	1236	1103	39	0	1836	0	AXIN1	16	396234	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	48251	396234	89958519	1121	118714											
AXIN1	8312	broad.mit.edu	37	chr16	396464	396464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccatagtggcctggatttCggtctgggcctggtcaaaca	12	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:396464C>T	uc002cgp.1	-	2	739	c.562G>A	c.(562-564)GAA>AAA	p.E188K	AXIN1_uc002cgq.1_Missense_Mutation_p.E188K	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	188	RGS.				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			breast(1)|liver(1)	2		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)				GCCTGGATTTCGGTCTGGGCC	0.517											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	396464	C	T	396464	3	4	235	1	0	0	0	0	1	0	0	0	1236	893	31	1	2066	1	AXIN1	16	396464	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	230	396464	89958289	1122	118715											
TMEM8A	58986	broad.mit.edu	37	chr16	426792	426792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagcagaagctcccgcGtgtaatcggggacaaagacc	12	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:426792G>A	uc002cgu.3	-	5	785	c.656C>T	c.(655-657)ACG>ATG	p.T219M	TMEM8A_uc002cgv.3_Missense_Mutation_p.T26M	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	219	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						AAGCTCCCGCGTGTAATCGGG	0.667													A	426792	G	A	426792	3	1	235	1	0	0	0	0	1	0	0	0	16211	1145	40	1	1695	1	TMEM8A	16	426792	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	30328	426792	89927961	1123	118716											
STUB1	10273	broad.mit.edu	37	chr16	731217	731217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctacctgaagatgcagcaGcacgagcaggccctggccga	13	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:731217G>A	uc002cit.2	+	2	636	c.225G>A	c.(223-225)CAG>CAA	p.Q75Q	STUB1_uc002ciu.2_Silent_p.Q3Q|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	75	TPR 2.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				AGATGCAGCAGCACGAGCAGG	0.672													A	731217	G	A	731217	2	1	235	1	0	0	0	0	0	0	0	1	15334	962	34	2		2	STUB1	16	731217	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	304425	731217	89623536	1124	118717											
EME2	197342	broad.mit.edu	37	chr16	1823424	1823424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgccgaggcgttgcggCtgctgcggccggagcaggtc	19	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:1823424C>T	uc002cmq.1	+	1	196	c.196C>T	c.(196-198)CTG>TTG	p.L66L	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.L66L	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	66					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						GGCGTTGCGGCTGCTGCGGCC	0.726								Direct_reversal_of_damage|Homologous_recombination					T	1823424	C	T	1823424	2	4	235	1	0	0	0	0	0	0	0	1	5089	796	28	2		2	EME2	16	1823424	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1092207	1823424	88531329	1125	118718											
NUBP2	10101	broad.mit.edu	37	chr16	1836845	1836845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaccagtgcgaccgcGgctgggcacccgtcttcctg	13	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:1836845G>A	uc002cmw.3	+	3	312	c.223G>A	c.(223-225)GGC>AGC	p.G75S	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_Missense_Mutation_p.G15S	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	75						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						GTGCGACCGCGGCTGGGCACC	0.682													A	1836845	G	A	1836845	3	1	235	1	0	0	0	0	1	0	0	0	10716	1116	39	1	233	1	NUBP2	16	1836845	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	13421	1836845	88517908	1126	118719											
ZNF598	90850	broad.mit.edu	37	chr16	2051158	2051158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggccacggaggcccGgacagcagctgctacttctc	13	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2051158G>A	uc002cof.1	-	9	1063	c.1048C>T	c.(1048-1050)CGG>TGG	p.R350W	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	350						intracellular	zinc ion binding			lung(1)|breast(1)	2						ACGGAGGCCCGGACAGCAGCT	0.672													A	2051158	G	A	2051158	3	1	235	1	0	0	0	0	1	0	0	0	18025	1115	39	1	1690	1	ZNF598	16	2051158	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	214313	2051158	88303595	1127	118720											
ZNF598	90850	broad.mit.edu	37	chr16	2052542	2052542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagtagtcctgggccccGtccgagtcgcagaagtggca	14	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2052542G>A	uc002cof.1	-	6	672	c.657C>T	c.(655-657)GAC>GAT	p.D219D	ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	219						intracellular	zinc ion binding			lung(1)|breast(1)	2						CCTGGGCCCCGTCCGAGTCGC	0.642													A	2052542	G	A	2052542	2	1	235	1	0	0	0	0	0	0	0	1	18025	1136	40	1		1	ZNF598	16	2052542	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1384	2052542	88302211	1128	118721											
DNASE1L2	1775	broad.mit.edu	37	chr16	2287831	2287831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgcaggactgggccGccatccgtctgaggagcagt	17	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2287831G>A	uc002cpo.2	+	5	1049	c.655G>A	c.(655-657)GCC>ACC	p.A219T	DNASE1L2_uc002cpn.2_Missense_Mutation_p.A198T|DNASE1L2_uc002cpp.2_Missense_Mutation_p.A219T|DNASE1L2_uc002cpq.2_Missense_Mutation_p.A219T	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2 precursor	219					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding				0						GGACTGGGCCGCCATCCGTCT	0.667													A	2287831	G	A	2287831	3	1	235	1	0	0	0	0	1	0	0	0	4662	1087	38	1	673	1	DNASE1L2	16	2287831	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	235289	2287831	88066922	1129	118722											
SRRM2	23524	broad.mit.edu	37	chr16	2809397	2809397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaatctaaggacaaaaagcGaaagcggtgagtgaatttgt	11	4	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:2809397G>A	uc002crk.2	+	8	1283	c.734G>A	c.(733-735)CGA>CAA	p.R245Q	SRRM2_uc002crj.1_Missense_Mutation_p.R149Q|SRRM2_uc002crl.1_Missense_Mutation_p.R245Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R149Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	245	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GACAAAAAGCGAAAGCGGTGA	0.413													A	2809397	G	A	2809397	3	1	235	1	0	0	0	0	1	0	0	0	15168	1058	37	1	760	1	SRRM2	16	2809397	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	521566	2809397	87545356	1130	118723											
PKMYT1	9088	broad.mit.edu	37	chr16	3024408	3024408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacagaacgcagctcGgaagacagacctgcccatga	11	12	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:3024408G>A	uc002csn.2	-	6	1433	c.990C>T	c.(988-990)TCC>TCT	p.S330S	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.S330S|PKMYT1_uc002cso.2_Silent_p.S261S|PKMYT1_uc002csp.2_Silent_p.S321S|PKMYT1_uc002csq.2_Silent_p.S321S|PKMYT1_uc010bsy.1_Silent_p.S321S	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	330	Protein kinase.				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			stomach(1)	1						AACGCAGCTCGGAAGACAGAC	0.662													A	3024408	G	A	3024408	2	1	235	1	0	0	0	0	0	0	0	1	11978	1103	39	1		1	PKMYT1	16	3024408	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	215011	3024408	87330345	1131	118724											
CLDN9	9080	broad.mit.edu	37	chr16	3063742	3063742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgggggtcatcctcctcCtcgccggcatcctggtgctc	12	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:3063742C>T	uc010uwo.1	+	1	1286	c.379C>T	c.(379-381)CTC>TTC	p.L127F		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	127	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CATCCTCCTCCTCGCCGGCAT	0.652													T	3063742	C	T	3063742	3	4	235	1	0	0	0	0	1	0	0	0	3492	681	24	4	381	4	CLDN9	16	3063742	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	39334	3063742	87291011	1132	118725											
PPL	5493	broad.mit.edu	37	chr16	4934126	4934126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatctcttgctcggtgtcGcccttctccacctggacact	9	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:4934126G>A	uc002cyd.1	-	22	4620	c.4530C>T	c.(4528-4530)GGC>GGT	p.G1510G		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1510	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCTCGGTGTCGCCCTTCTCCA	0.647													A	4934126	G	A	4934126	2	1	235	1	0	0	0	0	0	0	0	1	12334	1074	38	1		1	PPL	16	4934126	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1870384	4934126	85420627	1133	118726											
NAGPA	51172	broad.mit.edu	37	chr16	5083324	5083324	+	Frame_Shift_Del	DEL	C	C	-													ccgaactgcgcgttctgcagCcccccggagctgctcacccg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:5083324delC	uc002cyg.2	-	2	513	c.492delG	c.(490-492)GGGfs	p.G164fs	ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_Frame_Shift_Del_p.G22fs|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Frame_Shift_Del_p.G22fs|NAGPA_uc010uxx.1_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	164	Lumenal (Potential).				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				0					N-Acetyl-D-glucosamine(DB00141)	CGTTCTGCAGCCCCCCGGAGC	0.697													-	5083324	C	-	5083324	7	5	235	1	0	1	0	1	0	0	0	0	10144	726	26	0	1091	0	NAGPA	16	5083324	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	149198	5083324	85271429	1134	118727											
ALG1	56052	broad.mit.edu	37	chr16	5125391	5125391	+	Frame_Shift_Del	DEL	C	C	-													agtctctatctttcctagaaCcccccaggtctgcctagcat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:5125391delC	uc002cym.2	+	4	434	c.393delC	c.(391-393)AACfs	p.N131fs	ALG1_uc002cyj.2_Frame_Shift_Del_p.N20fs|ALG1_uc002cyn.2_Frame_Shift_Del_p.N131fs|ALG1_uc010bue.2_Frame_Shift_Del_p.N20fs|ALG1_uc010uxy.1_Frame_Shift_Del_p.N20fs	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	131	Lumenal (Potential).				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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				TTTCCTAGAACCCCCCAGGTC	0.493													-	5125391	C	-	5125391	7	5	235	1	0	1	0	1	0	0	0	0	510	506	18	0	407	0	ALG1	16	5125391	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	42067	5125391	85229362	1135	118728											
USP7	7874	broad.mit.edu	37	chr16	9010901	9010901	+	Frame_Shift_Del	DEL	T	T	-													acccaaatgactttgttaacTtttttgttcctacaggttta							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:9010901delT	uc002czl.2	-	7	1032	c.833delA	c.(832-834)AAGfs	p.K278fs	USP7_uc010uyk.1_Frame_Shift_Del_p.K179fs|USP7_uc010uyj.1_Frame_Shift_Del_p.K179fs|USP7_uc002czk.2_Frame_Shift_Del_p.K262fs|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	278					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			ovary(3)	3						CTTTGTTAACTTTTTTGTTCC	0.358													-	9010901	T	-	9010901	7	5	235	1	0	1	0	1	0	0	0	0	17085	1609	56	0	2575	0	USP7	16	9010901	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	3885510	9010901	81343852	1136	118729											
MYH11	4629	broad.mit.edu	37	chr16	15820795	15820800	+	In_Frame_Del	DEL	CTTCTT	CTTCTT	-													tcctgcacctgcgcctccagCttcttcttcttatgttccac					rs149241435	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:15820795_15820800delCTTCTT	uc002ddy.2	-	28	3870_3875	c.3763_3768delAAGAAG	c.(3763-3768)AAGAAGdel	p.KK1255del	MYH11_uc002ddv.2_In_Frame_Del_p.KK1262del|MYH11_uc002ddw.2_In_Frame_Del_p.KK1255del|MYH11_uc002ddx.2_In_Frame_Del_p.KK1262del|MYH11_uc010bvg.2_In_Frame_Del_p.KK1087del|MYH11_uc010bvh.2_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1255_1256	Potential.		Missing (in AAT4).		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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCGCCTCCAGCTTCTTCTTCTTATGT	0.612			T	CBFB	AML								-	15820800	CTTCTT	-	15820795	7	5	235	1	0	1	0	1	0	0	0	0	10031	796	28	0	2241	0	MYH11	16	15820795	In_Frame_Del	DEL	CTTCTT	TCGA-F1-6177-01A-11D-1800-08	6809894	15820795	74533958	1137	118730											
SMG1	23049	broad.mit.edu	37	chr16	18844443	18844443	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccctttcattaaacatcGaagtgcttctggaaatatga	6	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:18844443G>A	uc002dfm.2	-	51	8974	c.8611C>T	c.(8611-8613)CGA>TGA	p.R2871*	SMG1_uc010bwb.2_Nonsense_Mutation_p.R2731*|SMG1_uc010bwa.2_Nonsense_Mutation_p.R1602*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2871					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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ATTAAACATCGAAGTGCTTCT	0.373													A	18844443	G	A	18844443	4	1	235	1	0	0	0	0	0	1	0	0	14795	1066	37	1	2426	1	SMG1	16	18844443	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3023648	18844443	71510310	1138	118731											
UMOD	7369	broad.mit.edu	37	chr16	20359844	20359844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccttcacctggacggacGcatcccacaggcagcagtgg	13	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:20359844G>A	uc002dgz.2	-	3	908	c.779C>T	c.(778-780)GCG>GTG	p.A260V	UMOD_uc002dha.2_Missense_Mutation_p.A260V|UMOD_uc002dhb.2_Missense_Mutation_p.A293V	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	260					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			ovary(1)|skin(1)	2						CTGGACGGACGCATCCCACAG	0.672													A	20359844	G	A	20359844	3	1	235	1	0	0	0	0	1	0	0	0	16976	1087	38	1	1179	1	UMOD	16	20359844	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1515401	20359844	69994909	1139	118732											
DNAH3	55567	broad.mit.edu	37	chr16	21147803	21147803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggcaatcatgtctttgCgaattccattggtcagatag	11	8	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:21147803C>T	uc010vbe.1	-	6	728	c.728G>A	c.(727-729)CGC>CAC	p.R243H	DNAH3_uc002die.2_Missense_Mutation_p.R214H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	243	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATGTCTTTGCGAATTCCATT	0.473													T	21147803	C	T	21147803	3	4	235	1	0	0	0	0	1	0	0	0	4603	768	27	1	11849	1	DNAH3	16	21147803	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	787959	21147803	69206950	1140	118733											
EEF2K	29904	broad.mit.edu	37	chr16	22237143	22237143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgattctgatggggacagCgacgatgaggaaggttactt	16	5	1	3	rs148266060		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:22237143C>T	uc002dki.2	+	2	578	c.93C>T	c.(91-93)AGC>AGT	p.S31S	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	31					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			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		ATGGGGACAGCGACGATGAGG	0.527													T	22237143	C	T	22237143	2	4	235	1	0	0	0	0	0	0	0	1	4930	767	27	1		1	EEF2K	16	22237143	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1089340	22237143	68117610	1141	118734											
TNRC6A	27327	broad.mit.edu	37	chr16	24788506	24788506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctcgtgaagtacctccacGatttcgccaccaggaacaca	7	15	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:24788506G>T	uc002dmm.2	+	5	530	c.416G>T	c.(415-417)CGA>CTA	p.R139L	TNRC6A_uc010bxs.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	139					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GTACCTCCACGATTTCGCCAC	0.328													T	24788506	G	T	24788506	3	4	235	1	0	0	0	0	1	0	0	0	16337	1058	37	5	434	5	TNRC6A	16	24788506	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2551363	24788506	65566247	1142	118735											
TUFM	7284	broad.mit.edu	37	chr16	28855078	28855078	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttctctgggggcaggataatCcgacaggccatgtcccaagt	12	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28855078C>A	uc002drh.2	-	9	1312	c.1173G>T	c.(1171-1173)CGG>CGT	p.R391R	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	388						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						GCAGGATAATCCGACAGGCCA	0.522													A	28855078	C	A	28855078	2	1	235	1	0	0	0	0	0	0	0	1	16768	842	30	5		5	TUFM	16	28855078	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4066572	28855078	61499675	1143	118736											
SH2B1	25970	broad.mit.edu	37	chr16	28883542	28883542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagggggagccagagggCggtgagggggaccagcccct	19	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28883542C>T	uc002dri.2	+	9	1984	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.G205G|SH2B1_uc002drj.2_Silent_p.G515G|SH2B1_uc002drk.2_Silent_p.G515G|SH2B1_uc002drl.2_Silent_p.G515G|SH2B1_uc010vdd.1_Silent_p.G179G|SH2B1_uc010vde.1_Silent_p.G515G|SH2B1_uc002drm.2_Silent_p.G515G	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	515	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						AGCCAGAGGGCGGTGAGGGGG	0.642													T	28883542	C	T	28883542	2	4	235	1	0	0	0	0	0	0	0	1	14227	755	27	1		1	SH2B1	16	28883542	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	28464	28883542	61471211	1144	118737											
ATP2A1	487	broad.mit.edu	37	chr16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C													acctggacatcatggaccgcINScccccccggagccccaagga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|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	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|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						ATCATGGACCGCCCCCCCCGGA	0.658													C	28913641	-	C	28913640	7	5	235	1	0	1	1	0	0	0	0	0	1136	726	26	0	2523	0	ATP2A1	16	28913640	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	30098	28913640	61441113	1145	118738											
RABEP2	79874	broad.mit.edu	37	chr16	28919999	28919999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggggggctgaggatggCagctgctcggcccggagccc	18	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:28919999C>T	uc002drq.2	-	8	1224	c.1176G>A	c.(1174-1176)CTG>CTA	p.L392L	uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.L321L|RABEP2_uc010byn.2_Silent_p.L360L	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	392	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						CTGAGGATGGCAGCTGCTCGG	0.622													T	28919999	C	T	28919999	2	4	235	1	0	0	0	0	0	0	0	1	12962	697	25	2		2	RABEP2	16	28919999	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6359	28919999	61434754	1146	118739											
PRRT2	112476	broad.mit.edu	37	chr16	29825146	29825146	+	Frame_Shift_Del	DEL	G	G	-													ttggcaggtcctggggtggaGgggggtgaaggcacccagaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:29825146delG	uc002due.3	+	2	1072	c.771delG	c.(769-771)GAGfs	p.E257fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Frame_Shift_Del_p.E257fs|PRRT2_uc002duf.1_Frame_Shift_Del_p.E257fs|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	257	Extracellular (Potential).				response to biotic stimulus	integral to membrane					0						CTGGGGTGGAGGGGGGTGAAG	0.612													-	29825146	G	-	29825146	7	5	235	1	0	1	0	1	0	0	0	0	12610	991	35	0	773	0	PRRT2	16	29825146	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	905147	29825146	60529607	1147	118740											
ITGAL	3683	broad.mit.edu	37	chr16	30518138	30518138	+	Frame_Shift_Del	DEL	C	C	-													gtccagctggacctgcacttCcccccgggactctccttccg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:30518138delC	uc002dyi.3	+	21	2645	c.2469delC	c.(2467-2469)TTCfs	p.F823fs	ITGAL_uc002dyj.3_Frame_Shift_Del_p.F739fs|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	823	Extracellular (Potential).				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			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	ACCTGCACTTCCCCCCGGGAC	0.597													-	30518138	C	-	30518138	7	5	235	1	0	1	0	1	0	0	0	0	7886	854	30	0	2551	0	ITGAL	16	30518138	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	692992	30518138	59836615	1148	118741											
SRCAP	10847	broad.mit.edu	37	chr16	30740479	30740479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccccaccttttggactTataccgaggctgcccaccgg	9	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:30740479T>C	uc002dze.1	+	26	6236	c.5851T>C	c.(5851-5853)TAT>CAT	p.Y1951H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Y1746H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1951					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTTTTGGACTTATACCGAGGC	0.582													C	30740479	T	C	30740479	3	2	235	1	0	0	0	0	1	0	0	0	15134	1754	61	3	5945	3	SRCAP	16	30740479	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	222341	30740479	59614274	1149	118742											
BCL7C	9274	broad.mit.edu	37	chr16	30904559	30904559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggatccaccactggcaCccacttgaagatacgaaggg	12	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:30904559C>T	uc002dzv.2	-	2	279	c.145G>A	c.(145-147)GTG>ATG	p.V49M	BCL7C_uc002dzt.1_Missense_Mutation_p.V49M|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	49					apoptosis						0			Colorectal(24;0.198)			ACCACTGGCACCCACTTGAAG	0.622													T	30904559	C	T	30904559	3	4	235	1	0	0	0	0	1	0	0	0	1380	507	18	4	528	4	BCL7C	16	30904559	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	164080	30904559	59450194	1150	118743											
MYST1	84148	broad.mit.edu	37	chr16	31138547	31138547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacaagatccacatcgGgaactacgaaattgatgcct	10	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:31138547G>A	uc002eay.2	+	5	572	c.554G>A	c.(553-555)GGG>GAG	p.G185E	MYST1_uc002eax.2_Missense_Mutation_p.G185E|MYST1_uc002eaz.2_Missense_Mutation_p.G27E|MYST1_uc002eba.2_5'UTR|MYST1_uc002ebb.2_5'Flank	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	185					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						ATCCACATCGGGAACTACGAA	0.547													A	31138547	G	A	31138547	3	1	235	1	0	0	0	0	1	0	0	0	10102	1232	43	4	572	4	MYST1	16	31138547	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	233988	31138547	59216206	1151	118744											
LONP2	83752	broad.mit.edu	37	chr16	48385596	48385596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagggaatcccaggcaaCgtacgacaggatttaagttt	11	8	0	1	rs150743514		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:48385596C>T	uc002efi.1	+	15	2531	c.2442C>T	c.(2440-2442)AAC>AAT	p.N814N	LONP2_uc002efj.1_Silent_p.N770N	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	814					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				0						TCCCAGGCAACGTACGACAGG	0.473													T	48385596	C	T	48385596	2	4	235	1	0	0	0	0	0	0	0	1	8893	535	19	1		1	LONP2	16	48385596	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	17247049	48385596	41969157	1152	118745											
ZNF423	23090	broad.mit.edu	37	chr16	49671411	49671411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcgtgggctgcaccaccGgagactctagtttggcactg	13	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:49671411G>T	uc002efs.2	-	5	1950	c.1652C>A	c.(1651-1653)CCG>CAG	p.P551Q	ZNF423_uc010vgn.1_Missense_Mutation_p.P434Q	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	551					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CTGCACCACCGGAGACTCTAG	0.572													T	49671411	G	T	49671411	3	4	235	1	0	0	0	0	1	0	0	0	17895	1116	39	5	2222	5	ZNF423	16	49671411	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1285815	49671411	40683342	1153	118746											
ZNF423	23090	broad.mit.edu	37	chr16	49671517	49671517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactggttgcagaagaaagCattattaccgtcagaggggt	13	7	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:49671517C>T	uc002efs.2	-	5	1844	c.1546G>A	c.(1546-1548)GCT>ACT	p.A516T	ZNF423_uc010vgn.1_Missense_Mutation_p.A399T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	516					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CAGAAGAAAGCATTATTACCG	0.577													T	49671517	C	T	49671517	3	4	235	1	0	0	0	0	1	0	0	0	17895	710	25	2	2328	2	ZNF423	16	49671517	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	106	49671517	40683236	1154	118747											
HEATR3	55027	broad.mit.edu	37	chr16	50109581	50109581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagcactgctttctcctgTcagttccatggaatctcttc	6	13	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:50109581T>C	uc002efw.2	+	6	884	c.722T>C	c.(721-723)GTC>GCC	p.V241A	HEATR3_uc002efx.2_Missense_Mutation_p.V155A	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	241							binding			ovary(1)|skin(1)	2						CTTTCTCCTGTCAGTTCCATG	0.423													C	50109581	T	C	50109581	3	2	235	1	0	0	0	0	1	0	0	0	7029	1667	58	3	744	3	HEATR3	16	50109581	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	438064	50109581	40245172	1155	118748											
PAPD5	64282	broad.mit.edu	37	chr16	50259111	50259111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatgtagaagtaaaacctCggaatctcttagtaaacact	6	7	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:50259111C>T	uc010vgo.1	+	11	1705	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Intron|PAPD5_uc002ega.2_Missense_Mutation_p.S348L	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGTAAAACCTCGGAATCTCTT	0.383													T	50259111	C	T	50259111	3	4	235	1	0	0	0	0	1	0	0	0	11425	893	31	1	1712	1	PAPD5	16	50259111	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	149530	50259111	40095642	1156	118749											
NOD2	64127	broad.mit.edu	37	chr16	50746063	50746063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcatccggagcctgtaCgagatgcaggaggagcggct	16	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:50746063C>T	uc002egm.1	+	4	2346	c.2241C>T	c.(2239-2241)TAC>TAT	p.Y747Y	NOD2_uc010cbk.1_Silent_p.Y720Y|NOD2_uc002egl.1_Silent_p.Y525Y|NOD2_uc010cbl.1_Silent_p.Y525Y|NOD2_uc010cbm.1_Silent_p.Y525Y|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	747					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			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				GGAGCCTGTACGAGATGCAGG	0.627													T	50746063	C	T	50746063	2	4	235	1	0	0	0	0	0	0	0	1	10517	547	19	1		1	NOD2	16	50746063	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	486952	50746063	39608690	1157	118750											
IRX3	79191	broad.mit.edu	37	chr16	54319068	54319068	+	Frame_Shift_Del	DEL	C	C	-													cgtcgtcagccaggccctcgCcccccgtgtcctcctcctcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:54319068delC	uc002eht.1	-	2	1141	c.725delG	c.(724-726)GGCfs	p.G242fs		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	242	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						caggccctcgccccccgtgtc	0.313													-	54319068	C	-	54319068	7	5	235	1	0	1	0	1	0	0	0	0	7845	739	26	0	792	0	IRX3	16	54319068	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	3573005	54319068	36035685	1158	118751											
NUP93	9688	broad.mit.edu	37	chr16	56872937	56872937	+	Frame_Shift_Del	DEL	T	T	-													ttcttttggacttgatcaccTtttttgacgagtatcatagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:56872936_56872936CT>C	uc002eka.3	+	18	2212	c.2091_2091CT>C	c.(2089-2091)accfs	p.T697fs	NUP93_uc002ekb.3_Frame_Shift_Del_p.T574fs|NUP93_uc010vhi.2_Frame_Shift_Del_p.T574fs	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	697					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						ACTTGATCACCTTTTTTGACG	0.403													-	56872937	T	-	56872937	7	5	235	1	0	1	0	1	0	0	0	0	10772	1609	56	0	2162	0	NUP93	16	56872937	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	2553869	56872937	33481816	1159	118752											
CDH5	1003	broad.mit.edu	37	chr16	66413312	66413312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtggcagcagtggcAgcagcaggtgctaaccctgc	15	12	0	0	rs147924693	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:66413312A>G	uc002eom.3	+	2	228	c.72A>G	c.(70-72)GCA>GCG	p.A24A	CDH5_uc002eon.1_Silent_p.A24A	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	24					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			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCAGTGGCAGCAGCAGGTG	0.612													G	66413312	A	G	66413312	2	3	235	1	0	0	0	0	0	0	0	1	3113	175	7	3		3	CDH5	16	66413312	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	9540375	66413312	23941441	1160	118753											
KCTD19	146212	broad.mit.edu	37	chr16	67323574	67323574	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccatatttcctggcgaaGggcagtgtaagctggaagga	15	8	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67323574G>T	uc002esu.2	-	16	2730	c.2679C>A	c.(2677-2679)CCC>CCA	p.P893P	KCTD19_uc002est.2_Silent_p.P665P|KCTD19_uc010vjj.1_Silent_p.P636P	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	893						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCCTGGCGAAGGGCAGTGTAA	0.547													T	67323574	G	T	67323574	2	4	235	1	0	0	0	0	0	0	0	1	8106	987	35	5		5	KCTD19	16	67323574	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	910262	67323574	23031179	1161	118754											
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A													agactatcagccaccagccaINSaaaaaacaaagaaaaccaaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					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)		AGCCACCAGCCAAAAAAACAAA	0.475													A	67645340	-	A	67645339	7	5	235	1	0	1	1	0	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	321765	67645339	22709414	1162	118755											
RLTPR	146206	broad.mit.edu	37	chr16	67691166	67691166	+	Frame_Shift_Del	DEL	C	C	-													gcccctgaggctgcagcgctCccccgtcctcaaacgcaggc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67691166delC	uc002etn.2	+	37	4262	c.4142delC	c.(4141-4143)TCCfs	p.S1381fs	RLTPR_uc010vjr.1_Frame_Shift_Del_p.S1318fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1381	Pro-rich.									breast(1)	1		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)		CTGCAGCGCTCCCCCGTCCTC	0.632													-	67691166	C	-	67691166	7	5	235	1	0	1	0	1	0	0	0	0	13394	855	30	0	4288	0	RLTPR	16	67691166	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	45827	67691166	22663587	1163	118756											
GFOD2	81577	broad.mit.edu	37	chr16	67709578	67709578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctagtgacgtgccggatgCcacggatggcagcgttctgc	15	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67709578C>T	uc002eub.2	-	3	933	c.638G>A	c.(637-639)GGC>GAC	p.G213D	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.G108D	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	213						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		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)		GTGCCGGATGCCACGGATGGC	0.587													T	67709578	C	T	67709578	3	4	235	1	0	0	0	0	1	0	0	0	6344	739	26	2	523	2	GFOD2	16	67709578	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	18412	67709578	22645175	1164	118757											
CENPT	80152	broad.mit.edu	37	chr16	67862729	67862729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaccaacagaggctctGcaggctctgaagataagctg	12	11	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:67862729G>A	uc002eun.3	-	14	1847	c.1298C>T	c.(1297-1299)GCA>GTA	p.A433V	CENPT_uc002eum.3_Missense_Mutation_p.A378V|CENPT_uc010vkc.1_Missense_Mutation_p.A191V|CENPT_uc010vkd.1_Missense_Mutation_p.A186V	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	433					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGAGGCTCTGCAGGCTCTGA	0.592													A	67862729	G	A	67862729	3	1	235	1	0	0	0	0	1	0	0	0	3242	1319	46	2	399	2	CENPT	16	67862729	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	153151	67862729	22492024	1165	118758											
CDH1	999	broad.mit.edu	37	chr16	68862192	68862192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactatgatgaagaaggaggCggagaagaggaccaggtggg	18	4	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:68862192C>T	uc002ewg.1	+	14	2404	c.2280C>T	c.(2278-2280)GGC>GGT	p.G760G	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.G699G	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	760	Cytoplasmic (Potential).|Required for binding CTNND1 and PSEN1.			GGG->AAA: Binds to CTNNB1 but abolishes interaction of CTNNB1 with PSEN1. Abolishes gamma-secretase cleavage.	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			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		AAGAAGGAGGCGGAGAAGAGG	0.478			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68862192	C	T	68862192	2	4	235	1	0	0	0	0	0	0	0	1	3095	755	27	1		1	CDH1	16	68862192	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	999463	68862192	21492561	1166	118759											
VAC14	55697	broad.mit.edu	37	chr16	70726786	70726786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagagcagctggaaggcGctgctctgcggcaggagcat	17	10	1	1	rs140883176		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:70726786G>A	uc002ezm.2	-	18	2382	c.2124C>T	c.(2122-2124)AGC>AGT	p.S708S	VAC14_uc010cfw.2_Silent_p.S474S|VAC14_uc002ezn.2_Silent_p.S273S|VAC14_uc002ezo.1_5'Flank|VAC14_uc002ezl.2_Silent_p.S140S	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	708					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				GCTGGAAGGCGCTGCTCTGCG	0.667													A	70726786	G	A	70726786	2	1	235	1	0	0	0	0	0	0	0	1	17108	1078	38	1		1	VAC14	16	70726786	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1864594	70726786	19627967	1167	118760											
VAC14	55697	broad.mit.edu	37	chr16	70815824	70815824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagcagtcaggatcccGgaggagtaaggcagcatgac	14	9	1	2	rs142446813		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:70815824G>A	uc002ezm.2	-	8	1152	c.894C>T	c.(892-894)TCC>TCT	p.S298S	VAC14_uc010cfw.2_Silent_p.S64S|VAC14_uc002ezn.2_Intron	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	298					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				TCAGGATCCCGGAGGAGTAAG	0.557													A	70815824	G	A	70815824	2	1	235	1	0	0	0	0	0	0	0	1	17108	1103	39	1		1	VAC14	16	70815824	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	89038	70815824	19538929	1168	118761											
MARVELD3	91862	broad.mit.edu	37	chr16	71674425	71674425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacaactactactcacCgttcgagggcactgagctag	11	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:71674425C>T	uc002fau.2	+	3	791	c.728C>T	c.(727-729)CCG>CTG	p.P243L	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				TACTACTCACCGTTCGAGGGC	0.577													T	71674425	C	T	71674425	3	4	235	1	0	0	0	0	1	0	0	0	9319	652	23	1	1353	1	MARVELD3	16	71674425	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	858601	71674425	18680328	1169	118762											
PHLPP2	23035	broad.mit.edu	37	chr16	71736615	71736615	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacgatctgaagaggtcGttcagtaggttccagtctcc	10	9	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:71736615G>A	uc002fax.2	-	2	310	c.304C>T	c.(304-306)CGA>TGA	p.R102*	PHLPP2_uc010cgf.2_Nonsense_Mutation_p.R102*|PHLPP2_uc002fay.1_Nonsense_Mutation_p.R102*	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	102						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TGAAGAGGTCGTTCAGTAGGT	0.343													A	71736615	G	A	71736615	4	1	235	1	0	0	0	0	0	1	0	0	11855	1153	40	1	3735	1	PHLPP2	16	71736615	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	62190	71736615	18618138	1170	118763											
DHODH	1723	broad.mit.edu	37	chr16	72046132	72046132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctggggctccttccaCgggccagatttcaagactct	9	16	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72046132C>T	uc002fbp.2	+	2	226	c.205C>T	c.(205-207)CGG>TGG	p.R69W	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	69	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GCTCCTTCCACGGGCCAGATT	0.557													T	72046132	C	T	72046132	3	4	235	1	0	0	0	0	1	0	0	0	4484	527	19	1	211	1	DHODH	16	72046132	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	309517	72046132	18308621	1171	118764											
DHX38	9785	broad.mit.edu	37	chr16	72130091	72130091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggatgcctcgatccatcGattggaaggcactgatctgg	13	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72130091G>A	uc002fcb.2	+	2	390	c.35G>A	c.(34-36)CGA>CAA	p.R12Q	TXNL4B_uc010cgl.2_5'Flank|TXNL4B_uc002fca.2_5'Flank|TXNL4B_uc010vmn.1_5'Flank|TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Missense_Mutation_p.R12Q|DHX38_uc010cgn.1_5'Flank	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	12					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			skin(1)	1		Ovarian(137;0.125)				TCGATCCATCGATTGGAAGGC	0.537													A	72130091	G	A	72130091	3	1	235	1	0	0	0	0	1	0	0	0	4511	1058	37	1	37	1	DHX38	16	72130091	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	83959	72130091	18224662	1172	118765											
DHX38	9785	broad.mit.edu	37	chr16	72134477	72134477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccctttctggatgggcGcattgtcttcaccaagcagg	11	13	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72134477G>A	uc002fcb.2	+	9	1614	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	420					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			skin(1)	1		Ovarian(137;0.125)				CTGGATGGGCGCATTGTCTTC	0.488													A	72134477	G	A	72134477	3	1	235	1	0	0	0	0	1	0	0	0	4511	1087	38	1	1289	1	DHX38	16	72134477	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4386	72134477	18220276	1173	118766											
PMFBP1	83449	broad.mit.edu	37	chr16	72153907	72153907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcatagccttgtgttctcGgctttcatcttcttctcttc	7	12	5	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:72153907G>A	uc002fcc.3	-	20	3037	c.2865C>T	c.(2863-2865)GCC>GCT	p.A955A	PMFBP1_uc002fcd.2_Silent_p.A950A|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.A825A	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	955	Potential.									ovary(2)	2		Ovarian(137;0.179)				TTGTGTTCTCGGCTTTCATCT	0.547													A	72153907	G	A	72153907	2	1	235	1	0	0	0	0	0	0	0	1	12134	1103	39	1		1	PMFBP1	16	72153907	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	19430	72153907	18200846	1174	118767											
GLG1	2734	broad.mit.edu	37	chr16	74526881	74526881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacagctgactccaggcacAttaacaagtaggagagcctg	11	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:74526881A>G	uc002fcy.3	-	7	1258	c.1208T>C	c.(1207-1209)ATG>ACG	p.M403T	GLG1_uc002fcx.2_Missense_Mutation_p.M403T|GLG1_uc002fcw.3_Missense_Mutation_p.M392T|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	403	Cys-rich GLG1 5.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						CTCCAGGCACATTAACAAGTA	0.383													G	74526881	A	G	74526881	3	3	235	1	0	0	0	0	1	0	0	0	6436	217	8	3	2491	3	GLG1	16	74526881	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2372974	74526881	15827872	1175	118768											
WDR59	79726	broad.mit.edu	37	chr16	74937943	74937943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccaggggcctctgtgcGgatcttcatgggcgcgatca	14	12	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:74937943G>A	uc002fdh.1	-	18	1870	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C	WDR59_uc002fdf.1_Missense_Mutation_p.R35C|WDR59_uc002fdg.1_Missense_Mutation_p.R182C	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	590										ovary(1)|breast(1)	2						GCCTCTGTGCGGATCTTCATG	0.527													A	74937943	G	A	74937943	3	1	235	1	0	0	0	0	1	0	0	0	17305	1116	39	1	1192	1	WDR59	16	74937943	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	411062	74937943	15416810	1176	118769											
LDHD	197257	broad.mit.edu	37	chr16	75148724	75148724	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaggttcgcgagtcctaCccacgggaaaccagaggccg	14	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:75148724C>T	uc002fdm.2	-	4	516	c.469_splice	c.e4+1	p.D157_splice	LDHD_uc002fdn.2_Splice_Site_p.D157_splice	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor								D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						GCGAGTCCTACCCACGGGAAA	0.657													T	75148724	C	T	75148724	5	4	235	1	0	0	0	0	0	0	1	0	8703	521	18	4	1085	4	LDHD	16	75148724	Splice_Site	SNP	C	TCGA-F1-6177-01A-11D-1800-08	210781	75148724	15206029	1177	118770											
CHST6	4166	broad.mit.edu	37	chr16	75512783	75512783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttgaaggcttcgcggCgcgcaccaggtccagatccg	13	13	1	2	rs140618049	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:75512783C>T	uc002fef.2	-	3	1124	c.944G>A	c.(943-945)CGC>CAC	p.R315H	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R315H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	315	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GGCTTCGCGGCGCGCACCAGG	0.627													T	75512783	C	T	75512783	3	4	235	1	0	0	0	0	1	0	0	0	3408	768	27	1	247	1	CHST6	16	75512783	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	364059	75512783	14841970	1178	118771											
CHST5	23563	broad.mit.edu	37	chr16	75564134	75564134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggatgagggccctggcCgggagatgatgaagagcagg	20	7	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:75564134C>T	uc002fei.2	-	3	1544	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	CHST5_uc002fej.1_Missense_Mutation_p.R56Q	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	50	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GGGCCCTGGCCGGGAGATGAT	0.667													T	75564134	C	T	75564134	3	4	235	1	0	0	0	0	1	0	0	0	3407	652	23	1	1090	1	CHST5	16	75564134	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	51351	75564134	14790619	1179	118772											
CDYL2	124359	broad.mit.edu	37	chr16	80654764	80654764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacacgctccccactgcGctgaggagcagcagtttgct	11	14	0	2	rs141862110	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:80654764G>A	uc002ffs.2	-	4	1008	c.903C>T	c.(901-903)AGC>AGT	p.S301S		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	301						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						TCCCCACTGCGCTGAGGAGCA	0.572													A	80654764	G	A	80654764	2	1	235	1	0	0	0	0	0	0	0	1	3186	1078	38	1		1	CDYL2	16	80654764	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5090630	80654764	9699989	1180	118773											
GCSH	2653	broad.mit.edu	37	chr16	81124283	81124283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctctgtgaatttacGcactaaaacagaagaccaac	7	9	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:81124283G>A	uc002fgd.2	-	2	248	c.151C>T	c.(151-153)CGT>TGT	p.R51C	GCSH_uc002fge.2_RNA	NM_004483	NP_004474	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl	51						glycine cleavage complex|mitochondrion	aminomethyltransferase activity				0					Glycine(DB00145)	GTGAATTTACGCACTAAAACA	0.348													A	81124283	G	A	81124283	3	1	235	1	0	0	0	0	1	0	0	0	6305	1087	38	1	386	1	GCSH	16	81124283	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	469519	81124283	9230470	1181	118774											
PKD1L2	114780	broad.mit.edu	37	chr16	81145839	81145839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcgccccaggcacggcGtagggctgccgtgatcatgt	14	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:81145839G>A	uc002fgh.1	-	42	6913	c.6913C>T	c.(6913-6915)CGC>TGC	p.R2305C	PKD1L2_uc002fgf.1_Missense_Mutation_p.R105C|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2305	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGGCACGGCGTAGGGCTGCC	0.512													A	81145839	G	A	81145839	3	1	235	1	0	0	0	0	1	0	0	0	11965	1145	40	1	482	1	PKD1L2	16	81145839	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	21556	81145839	9208914	1182	118775											
CMIP	80790	broad.mit.edu	37	chr16	81694495	81694495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtgtttcaggcaatcGctcctttgctggaaaacaac	9	9	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:81694495G>A	uc002fgp.2	+	6	760	c.688G>A	c.(688-690)GCT>ACT	p.A230T	CMIP_uc002fgq.1_Missense_Mutation_p.A136T|CMIP_uc010vnq.1_Missense_Mutation_p.A43T|CMIP_uc002fgr.1_Missense_Mutation_p.A77T	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	196						cytoplasm|nucleus					0						TCAGGCAATCGCTCCTTTGCT	0.348													A	81694495	G	A	81694495	3	1	235	1	0	0	0	0	1	0	0	0	3578	1087	38	1	732	1	CMIP	16	81694495	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	548656	81694495	8660258	1183	118776											
KCNG4	93107	broad.mit.edu	37	chr16	84256361	84256361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgtagaggatgcgcagcGctcgcagcacacgcaggacc	13	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84256361G>A	uc010voc.1	-	3	1143	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	341	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GATGCGCAGCGCTCGCAGCAC	0.701													A	84256361	G	A	84256361	3	1	235	1	0	0	0	0	1	0	0	0	8030	1087	38	1	539	1	KCNG4	16	84256361	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2561866	84256361	6098392	1184	118777											
USP10	9100	broad.mit.edu	37	chr16	84806174	84806175	+	Frame_Shift_Ins	INS	-	-	A													aagtcgaagagtgactctggINSaaaaactccctcctgtcctc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84806174_84806175insA	uc002fii.2	+	12	2168_2169	c.2026_2027insA	c.(2026-2028)GAAfs	p.E676fs	USP10_uc010voe.1_Frame_Shift_Ins_p.E680fs|USP10_uc010vof.1_Frame_Shift_Ins_p.E238fs|USP10_uc002fij.2_Frame_Shift_Ins_p.E202fs	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	676					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				0						AGTGACTCTGGAAAAACTCCCT	0.475													A	84806175	-	A	84806174	7	5	235	1	0	1	1	0	0	0	0	0	17038	1175	41	0	2072	0	USP10	16	84806174	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	549813	84806174	5548579	1185	118778	600	2									
USP10	9100	broad.mit.edu	37	chr16	84806175	84806176	+	Frame_Shift_Ins	INS	-	-	A													agtcgaagagtgactctggaINSaaaactccctcctgtcctcg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84806174_84806175G>GA	uc010voe.2	+	12	2289_2290	c.2038_2039G>GA	c.(2038-2040)gaafs	p.E680fs	USP10_uc002fii.3_Frame_Shift_Ins_p.E676fs|USP10_uc010vof.2_Frame_Shift_Ins_p.E238fs|USP10_uc002fij.3_Frame_Shift_Ins_p.E202fs	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	676					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						AGTGACTCTGGAAAAACTCCCT	0.475													A	84806176	-	A	84806175	7	5	235	1	0	1	1	0	0	0	0	0	17038	246	9	0	2073	0	USP10	16	84806175	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	84806175	5548578	1186	118779	600	2									
USP10	9100	broad.mit.edu	37	chr16	84812581	84812581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtctgaatggctggctgCgcatcgatgaccagacagtc	13	11	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:84812581C>T	uc002fii.2	+	14	2432	c.2290C>T	c.(2290-2292)CGC>TGC	p.R764C	USP10_uc010voe.1_Missense_Mutation_p.R768C|USP10_uc010vof.1_Missense_Mutation_p.R326C|USP10_uc002fij.2_Missense_Mutation_p.R290C	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	764					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				0						TGGCTGGCTGCGCATCGATGA	0.567													T	84812581	C	T	84812581	3	4	235	1	0	0	0	0	1	0	0	0	17038	768	27	1	2344	1	USP10	16	84812581	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6406	84812581	5542172	1187	118780											
ZDHHC7	55625	broad.mit.edu	37	chr16	85024123	85024123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagacccggtcagccacGtcagcctcggaggaggagga	14	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:85024123G>A	uc002fiq.2	-	3	455	c.102C>T	c.(100-102)GAC>GAT	p.D34D	ZDHHC7_uc010voi.1_Silent_p.D34D|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	34						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						GGTCAGCCACGTCAGCCTCGG	0.577													A	85024123	G	A	85024123	2	1	235	1	0	0	0	0	0	0	0	1	17617	1136	40	1		1	ZDHHC7	16	85024123	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	211542	85024123	5330630	1188	118781											
FAM92B	339145	broad.mit.edu	37	chr16	85143874	85143874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttggccaggtcctcagcGaagcccctcatggtggcccg	12	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:85143874G>A	uc010vok.1	-	2	369	c.213C>T	c.(211-213)TTC>TTT	p.F71F		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	71										central_nervous_system(1)	1						GGTCCTCAGCGAAGCCCCTCA	0.662													A	85143874	G	A	85143874	2	1	235	1	0	0	0	0	0	0	0	1	5653	1049	37	1		1	FAM92B	16	85143874	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	119751	85143874	5210879	1189	118782											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	235	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	538416	85682290	4672463	1190	118783											
COX4I1	1327	broad.mit.edu	37	chr16	85839437	85839437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttcttcatcggtttcAccgcgctcgttatcatgtgg	9	12	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:85839437A>G	uc002fje.2	+	4	504	c.340A>G	c.(340-342)ACC>GCC	p.T114A	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.T114A|COX4I1_uc010vom.1_Missense_Mutation_p.T81A	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	114					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CATCGGTTTCACCGCGCTCGT	0.562													G	85839437	A	G	85839437	3	3	235	1	0	0	0	0	1	0	0	0	3769	159	6	3	350	3	COX4I1	16	85839437	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	157147	85839437	4515316	1191	118784											
MTHFSD	64779	broad.mit.edu	37	chr16	86575426	86575426	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcttcagggatgtccacGacctgggggaagagaggagg	17	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:86575426G>A	uc002fjn.2	-	7	609	c.558C>T	c.(556-558)GTC>GTT	p.V186V	MTHFSD_uc010voo.1_Silent_p.V166V|MTHFSD_uc002fjo.2_Silent_p.V23V|MTHFSD_uc002fjm.2_Silent_p.V185V|MTHFSD_uc010vop.1_Silent_p.V23V|MTHFSD_uc010voq.1_Silent_p.V185V|MTHFSD_uc010vor.1_Silent_p.V186V|MTHFSD_uc002fjp.2_Silent_p.V166V	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	186					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						GGATGTCCACGACCTGGGGGA	0.597													A	86575426	G	A	86575426	2	1	235	1	0	0	0	0	0	0	0	1	9933	1045	37	1		1	MTHFSD	16	86575426	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	735989	86575426	3779327	1192	118785											
SPG7	6687	broad.mit.edu	37	chr16	89614500	89614500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactctcaacttcgagtacGccgtggagcgcgtcctcgca	10	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:89614500G>A	uc002fnj.2	+	12	1663	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_5'Flank	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	548	Mitochondrial matrix (Potential).				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				0		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)		CTTCGAGTACGCCGTGGAGCG	0.627													A	89614500	G	A	89614500	3	1	235	1	0	0	0	0	1	0	0	0	15043	1087	38	1	1838	1	SPG7	16	89614500	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3039074	89614500	740253	1193	118786											
C16orf7	9605	broad.mit.edu	37	chr16	89778933	89778934	+	Splice_Site	INS	-	-	G													cgctgtagagagagggtctgINSgggggggaggagggagtaag					rs143123169	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr16:89778932_89778933T>TG	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAGG	0.668													G	89778934	-	G	89778933	8	5	235	1	0	1	1	0	0	0	1	0	1828	1363	47	0		0	C16orf7	16	89778933	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	164433	89778933	575820	1194	118787											
NXN	64359	broad.mit.edu	37	chr17	707017	707017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgaatcagctgcttggCcgcctcggactctccgtcat	11	15	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:707017C>T	uc002fsa.2	-	7	1122	c.1030G>A	c.(1030-1032)GCC>ACC	p.A344T	NXN_uc010vqd.1_Missense_Mutation_p.A35T|NXN_uc002frz.2_Missense_Mutation_p.A95T|NXN_uc010vqe.1_Missense_Mutation_p.A236T	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	344					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AGCTGCTTGGCCGCCTCGGAC	0.552													T	707017	C	T	707017	3	4	235	1	0	0	0	0	1	0	0	0	10787	739	26	2	285	2	NXN	17	707017	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		707017	80488193	1195	118788											
WDR81	124997	broad.mit.edu	37	chr17	1637358	1637358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaccgtgcgcctctggcCgctgtacaactacggcgacg	12	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:1637358C>T	uc002fti.2	+	7	1607	c.1346C>T	c.(1345-1347)CCG>CTG	p.P449L	WDR81_uc002fth.2_Missense_Mutation_p.P625L|WDR81_uc010vqp.1_Missense_Mutation_p.P473L|WDR81_uc002ftj.2_Missense_Mutation_p.P1676L|WDR81_uc010vqq.1_Missense_Mutation_p.P307L	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	449										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCTCTGGCCGCTGTACAAC	0.672													T	1637358	C	T	1637358	3	4	235	1	0	0	0	0	1	0	0	0	17327	652	23	1	5115	1	WDR81	17	1637358	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	930341	1637358	79557852	1196	118789											
WDR81	124997	broad.mit.edu	37	chr17	1638935	1638935	+	Frame_Shift_Del	DEL	C	C	-													tgcggtggctgtcatgcccgCcccccacaccagcatcacca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:1638935delC	uc002fti.2	+	8	1829	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	WDR81_uc002fth.2_Frame_Shift_Del_p.A699fs|WDR81_uc010vqp.1_Frame_Shift_Del_p.A547fs|WDR81_uc002ftj.2_Frame_Shift_Del_p.A1750fs|WDR81_uc010vqq.1_Frame_Shift_Del_p.A381fs	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	523										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTCATGCCCGCCCCCCACACC	0.642													-	1638935	C	-	1638935	7	5	235	1	0	1	0	1	0	0	0	0	17327	739	26	0	5341	0	WDR81	17	1638935	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1577	1638935	79556275	1197	118790											
SERPINF2	5345	broad.mit.edu	37	chr17	1650347	1650347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgttgcagaggctgcaacaGgtgctgcacgcaggctcagg	15	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:1650347G>T	uc002ftk.1	+	6	479	c.402G>T	c.(400-402)CAG>CAT	p.Q134H	SERPINF2_uc010vqr.1_Missense_Mutation_p.Q70H	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	134					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGCTGCAACAGGTGCTGCACG	0.692													T	1650347	G	T	1650347	3	4	235	1	0	0	0	0	1	0	0	0	14115	991	35	5	430	5	SERPINF2	17	1650347	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	11412	1650347	79544863	1198	118791											
TSR1	55720	broad.mit.edu	37	chr17	2238058	2238058	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaactgcctaagcagcatcCctgcctcctgttgagtgtct	8	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:2238058C>A	uc002fuj.2	-	5	1646	c.689G>T	c.(688-690)GGG>GTG	p.G230V	SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	230					ribosome assembly	nucleolus	protein binding			ovary(1)	1						AAGCAGCATCCCTGCCTCCTG	0.473													A	2238058	C	A	2238058	3	1	235	1	0	0	0	0	1	0	0	0	16661	623	22	5	1769	5	TSR1	17	2238058	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	587711	2238058	78957152	1199	118792											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2570463	2570463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtgttcagtgttatgGtctctgcttcagaggatgct	11	8	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:2570463G>A	uc002fuw.3	+	5	938	c.370G>A	c.(370-372)GTC>ATC	p.V124I	PAFAH1B1_uc010ckb.1_RNA|PAFAH1B1_uc010vqz.1_5'Flank	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	124	WD 1.|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			skin(1)	1						CAGTGTTATGGTCTCTGCTTC	0.328													A	2570463	G	A	2570463	3	1	235	1	0	0	0	0	1	0	0	0	11384	1261	44	4	384	4	PAFAH1B1	17	2570463	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	332405	2570463	78624747	1200	118793											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2808601	2808601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggagctggccaacagctCggatgcgaccctcccagacc	12	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:2808601C>T	uc010ckd.2	+	3	194	c.104C>T	c.(103-105)TCG>TTG	p.S35L	RAP1GAP2_uc010cke.2_Missense_Mutation_p.S35L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	35					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						GCCAACAGCTCGGATGCGACC	0.617													T	2808601	C	T	2808601	3	4	235	1	0	0	0	0	1	0	0	0	13038	893	31	1	114	1	RAP1GAP2	17	2808601	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	238138	2808601	78386609	1201	118794											
TMEM93	83460	broad.mit.edu	37	chr17	3572580	3572580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggcatcctcggcctcaCcggcctctacggcttcatct	10	18	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:3572580C>T	uc002fwf.1	+	2	293	c.140C>T	c.(139-141)ACC>ATC	p.T47I	TAX1BP3_uc002fwc.2_5'Flank|P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_5'Flank|TMEM93_uc002fwg.1_Missense_Mutation_p.T47I|P2RX5_uc002fwh.1_3'UTR	NM_031298	NP_112588	Q9BV81	TMM93_HUMAN	transmembrane protein 93	47						integral to membrane					0						CTCGGCCTCACCGGCCTCTAC	0.632													T	3572580	C	T	3572580	3	4	235	1	0	0	0	0	1	0	0	0	16219	507	18	4	142	4	TMEM93	17	3572580	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	763979	3572580	77622630	1202	118795											
ZZEF1	23140	broad.mit.edu	37	chr17	3966183	3966183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgctctgggcctgggCtttcctcagggaaagaacct	13	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:3966183C>T	uc002fxe.2	-	30	4811	c.4747G>A	c.(4747-4749)GCC>ACC	p.A1583T	ZZEF1_uc002fxh.2_5'UTR|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.A196T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1583							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGGCCTGGGCTTTCCTCAGG	0.522													T	3966183	C	T	3966183	3	4	235	1	0	0	0	0	1	0	0	0	18252	797	28	2	4242	2	ZZEF1	17	3966183	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	393603	3966183	77229027	1203	118796											
SMTNL2	342527	broad.mit.edu	37	chr17	4496330	4496330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccaccagccagtcacGgccatcacccgagtctctga	8	19	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:4496330G>A	uc002fyf.1	+	3	661	c.594G>A	c.(592-594)ACG>ACA	p.T198T	SMTNL2_uc002fye.2_Silent_p.T54T	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	198											0				READ - Rectum adenocarcinoma(115;0.0325)		AGCCAGTCACGGCCATCACCC	0.642													A	4496330	G	A	4496330	2	1	235	1	0	0	0	0	0	0	0	1	14816	1103	39	1		1	SMTNL2	17	4496330	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	530147	4496330	76698880	1204	118797											
CHRNE	1145	broad.mit.edu	37	chr17	4804101	4804101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcacctgcccaggagcgGcacgctcagagaagtctctg	12	14	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:4804101G>A	uc002fzk.1	-	8	915	c.904C>T	c.(904-906)CCG>TCG	p.P302S	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	302	Extracellular (Potential).				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				0						CCCAGGAGCGGCACGCTCAGA	0.637													A	4804101	G	A	4804101	3	1	235	1	0	0	0	0	1	0	0	0	3395	1203	42	2	597	2	CHRNE	17	4804101	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	307771	4804101	76391109	1205	118798											
CAMTA2	23125	broad.mit.edu	37	chr17	4883674	4883674	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcttgaagaaccccctcGagaagtgggagggctaggtc	13	11	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:4883674G>A	uc002gah.1	-	9	1051	c.943C>T	c.(943-945)CGA>TGA	p.R315*	CAMTA2_uc010cku.1_Nonsense_Mutation_p.R338*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.R314*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.R317*|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Nonsense_Mutation_p.R128*	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	315					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GAACCCCCTCGAGAAGTGGGA	0.592											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4883674	G	A	4883674	4	1	235	1	0	0	0	0	0	1	0	0	2614	1066	37	1	2775	1	CAMTA2	17	4883674	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	79573	4883674	76311536	1206	118799											
USP6	9098	broad.mit.edu	37	chr17	5073913	5073913	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaaaaataagccgtcAagtagtaagaagaacttgga	11	6	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:5073913A>G	uc002gau.1	+	36	5887	c.3657A>G	c.(3655-3657)TCA>TCG	p.S1219S	USP6_uc002gav.1_Silent_p.S1219S|USP6_uc010ckz.1_Silent_p.S902S	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	1219					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			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						ATAAGCCGTCAAGTAGTAAGA	0.582			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								G	5073913	A	G	5073913	2	3	235	1	0	0	0	0	0	0	0	1	17083	117	5	3		3	USP6	17	5073913	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	190239	5073913	76121297	1207	118800											
NLRP1	22861	broad.mit.edu	37	chr17	5425092	5425092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatttggaacagggatgTgtccacatggccccctgtaa	12	11	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:5425092T>C	uc002gci.2	-	13	4090	c.3535A>G	c.(3535-3537)ACA>GCA	p.T1179A	NLRP1_uc002gcg.1_Missense_Mutation_p.T1183A|NLRP1_uc002gck.2_Missense_Mutation_p.T1179A|NLRP1_uc002gcj.2_Missense_Mutation_p.T1149A|NLRP1_uc002gcl.2_Missense_Mutation_p.T1149A|NLRP1_uc002gch.3_Missense_Mutation_p.T1179A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1179					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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AACAGGGATGTGTCCACATGG	0.383													C	5425092	T	C	5425092	3	2	235	1	0	0	0	0	1	0	0	0	10471	1696	59	3	969	3	NLRP1	17	5425092	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	351179	5425092	75770118	1208	118801											
PHF23	79142	broad.mit.edu	37	chr17	7139763	7139764	+	Frame_Shift_Ins	INS	-	-	G													gcacgggggtaagagcagcaINSgggggccgggaggtatgtgt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7139763_7139764insG	uc002gfa.2	-	4	709_710	c.482_483insC	c.(481-483)CCTfs	p.P161fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Frame_Shift_Ins_p.P94fs|PHF23_uc010cma.2_Frame_Shift_Ins_p.P31fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	161							zinc ion binding				0						TAAGAGCAGCAGGGGGCCGGGA	0.589													G	7139764	-	G	7139763	7	5	235	1	0	1	1	0	0	0	0	0	11835	175	7	0	736	0	PHF23	17	7139763	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1714671	7139763	74055447	1209	118802	601	2									
PHF23	79142	broad.mit.edu	37	chr17	7139764	7139765	+	Frame_Shift_Ins	INS	-	-	G													cacgggggtaagagcagcagINSggggccgggaggtatgtgtc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7139763_7139764A>AG	uc002gfa.3	-	3	709_710	c.482_483T>CT	c.(481-483)cctfs	p.P161fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Frame_Shift_Ins_p.P94fs|PHF23_uc010cma.3_Frame_Shift_Ins_p.P31fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	161							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TAAGAGCAGCAGGGGGCCGGGA	0.589													G	7139765	-	G	7139764	7	5	235	1	0	1	1	0	0	0	0	0	11835	1000	35	0	737	0	PHF23	17	7139764	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	7139764	74055446	1210	118803	601	2									
NEURL4	84461	broad.mit.edu	37	chr17	7219602	7219602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcacacacacctggaacGccacctgagcctggtgcgtc	12	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7219602G>A	uc002gga.1	-	29	4536	c.4529C>T	c.(4528-4530)GCG>GTG	p.A1510V	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.A1508V	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1510							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CACCTGGAACGCCACCTGAGC	0.527													A	7219602	G	A	7219602	3	1	235	1	0	0	0	0	1	0	0	0	10347	1087	38	1	163	1	NEURL4	17	7219602	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	79838	7219602	73975608	1211	118804											
NEURL4	84461	broad.mit.edu	37	chr17	7226379	7226379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgtgcacctgtgcccagCgcatccaggtcacacccata	9	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7226379C>T	uc002gga.1	-	15	2488	c.2481G>A	c.(2479-2481)GCG>GCA	p.A827A	NEURL4_uc002ggb.1_Silent_p.A827A|NEURL4_uc002ggc.1_Silent_p.A173A	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	827	NHR 4.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGTGCCCAGCGCATCCAGGT	0.602													T	7226379	C	T	7226379	2	4	235	1	0	0	0	0	0	0	0	1	10347	755	27	1		1	NEURL4	17	7226379	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6777	7226379	73968831	1212	118805											
C17orf74	201243	broad.mit.edu	37	chr17	7330257	7330257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgggatcagcggcgtcGtggcacggagggctttgagc	17	11	1	1	rs117934604	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7330257G>A	uc002ggw.2	+	3	1020	c.947G>A	c.(946-948)CGT>CAT	p.R316H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	316						integral to membrane					0		Prostate(122;0.157)				CAGCGGCGTCGTGGCACGGAG	0.711													A	7330257	G	A	7330257	3	1	235	1	0	0	0	0	1	0	0	0	1879	1145	40	1	957	1	C17orf74	17	7330257	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	103878	7330257	73864953	1213	118806											
POLR2A	5430	broad.mit.edu	37	chr17	7405890	7405890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcagtgatggtgaagtacGacgcgactgtgcggaactcc	14	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7405890G>A	uc002ghf.3	+	16	2860	c.2626G>A	c.(2626-2628)GAC>AAC	p.D876N		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	876					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			pancreas(1)	1		Prostate(122;0.173)				GGTGAAGTACGACGCGACTGT	0.592													A	7405890	G	A	7405890	3	1	235	1	0	0	0	0	1	0	0	0	12214	1058	37	1	2688	1	POLR2A	17	7405890	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	75633	7405890	73789320	1214	118807											
CHD3	1107	broad.mit.edu	37	chr17	7796827	7796827	+	Frame_Shift_Del	DEL	C	C	-													gaccccccgcccttccaccaCcccctgctgctgatatccag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7796827delC	uc002gje.2	+	5	883	c.733delC	c.(733-735)CCCfs	p.P245fs	CHD3_uc002gjd.2_Frame_Shift_Del_p.P304fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P245fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P77fs	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	245	Poly-Pro.				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(1)	1		Prostate(122;0.202)				CCTTCCACCACCCCCTGCTGC	0.527													-	7796827	C	-	7796827	7	5	235	1	0	1	0	1	0	0	0	0	3326	507	18	0	1032	0	CHD3	17	7796827	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	390937	7796827	73398383	1215	118808											
CHD3	1107	broad.mit.edu	37	chr17	7809229	7809229	+	Frame_Shift_Del	DEL	G	G	-													cctcaatgctgtgatgcgctGggggatgccaccacaggatg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7809229delG	uc002gje.2	+	28	4430	c.4280delG	c.(4279-4281)TGGfs	p.W1427fs	CHD3_uc002gjd.2_Frame_Shift_Del_p.W1486fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.W1427fs|CHD3_uc002gjh.2_Frame_Shift_Del_p.W3fs|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1427					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(1)	1		Prostate(122;0.202)				GTGATGCGCTGGGGGATGCCA	0.582													-	7809229	G	-	7809229	7	5	235	1	0	1	0	1	0	0	0	0	3326	1357	47	0	4671	0	CHD3	17	7809229	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	12402	7809229	73385981	1216	118809											
GUCY2D	3000	broad.mit.edu	37	chr17	7917940	7917940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaacatcaacaagggcCggaagacgaacatcattgac	9	10	3	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7917940C>T	uc002gjt.2	+	13	2508	c.2434C>T	c.(2434-2436)CGG>TGG	p.R812W		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	812	Cytoplasmic (Potential).				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			skin(1)	1		Prostate(122;0.157)				CAACAAGGGCCGGAAGACGAA	0.552													T	7917940	C	T	7917940	3	4	235	1	0	0	0	0	1	0	0	0	6897	643	23	1	2480	1	GUCY2D	17	7917940	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	108711	7917940	73277270	1217	118810											
GUCY2D	3000	broad.mit.edu	37	chr17	7919132	7919132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggacacggtcaacaccGcctcgcgcatggagtccacc	12	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:7919132G>A	uc002gjt.2	+	16	3090	c.3016G>A	c.(3016-3018)GCC>ACC	p.A1006T		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1006	Guanylate cyclase.|Cytoplasmic (Potential).				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			skin(1)	1		Prostate(122;0.157)				GGTCAACACCGCCTCGCGCAT	0.697													A	7919132	G	A	7919132	3	1	235	1	0	0	0	0	1	0	0	0	6897	1087	38	1	3074	1	GUCY2D	17	7919132	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1192	7919132	73276078	1218	118811											
USP43	124739	broad.mit.edu	37	chr17	9596520	9596520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctccgaaggacagtcGgcccctctgtcactgggcag	12	13	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:9596520G>A	uc010cod.2	+	9	1430	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q	USP43_uc002gma.3_Missense_Mutation_p.R166Q|USP43_uc010vva.1_Missense_Mutation_p.R477Q|USP43_uc010coe.2_Missense_Mutation_p.R274Q	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	477					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						AAGGACAGTCGGCCCCTCTGT	0.512													A	9596520	G	A	9596520	3	1	235	1	0	0	0	0	1	0	0	0	17071	1116	39	1	1464	1	USP43	17	9596520	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1677388	9596520	71598690	1219	118812											
GAS7	8522	broad.mit.edu	37	chr17	9846445	9846445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggcttcacctttcccGgatgaattctgacatttcct	7	14	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:9846445G>A	uc002gmg.1	-	7	885	c.724C>T	c.(724-726)CGG>TGG	p.R242W	GAS7_uc010vvc.1_Missense_Mutation_p.R56W|GAS7_uc002gmh.1_Missense_Mutation_p.R102W|GAS7_uc010vvd.1_Missense_Mutation_p.R194W|GAS7_uc002gmi.2_Missense_Mutation_p.R178W|GAS7_uc002gmj.1_Missense_Mutation_p.R182W|GAS7_uc010coh.1_Missense_Mutation_p.R182W	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	242	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						CACCTTTCCCGGATGAATTCT	0.488			T	MLL	AML*								A	9846445	G	A	9846445	3	1	235	1	0	0	0	0	1	0	0	0	6250	1115	39	1	738	1	GAS7	17	9846445	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	249925	9846445	71348765	1220	118813											
MAP2K4	6416	broad.mit.edu	37	chr17	12011155	12011155	+	Frame_Shift_Del	DEL	T	T	-													tgtctacctcgtttgataagTtttacaaatatgtatatagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:12011155delT	uc002gnj.2	+	5	631	c.562delT	c.(562-564)TTTfs	p.F188fs	MAP2K4_uc002gnk.2_Frame_Shift_Del_p.F199fs|MAP2K4_uc010vvi.1_Frame_Shift_Del_p.F70fs|MAP2K4_uc010vvj.1_Frame_Shift_Del_p.F60fs	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	188	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.?(1)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		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)		GTTTGATAAGTTTTACAAATA	0.294			D|Mis|N		pancreatic|breast|colorectal								-	12011155	T	-	12011155	7	5	235	1	0	1	0	1	0	0	0	0	9239	1725	60	0	580	0	MAP2K4	17	12011155	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	2164710	12011155	69184055	1221	118814											
MYOCD	93649	broad.mit.edu	37	chr17	12642606	12642606	+	Frame_Shift_Del	DEL	C	C	-													gcggggaagcaggggcttggCccccccagcacccccatagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:12642606delC	uc002gnn.2	+	7	977	c.678delC	c.(676-678)GGCfs	p.G226fs	MYOCD_uc002gno.2_Frame_Shift_Del_p.G226fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.G130fs	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	226					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			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGGGCTTGGCCCCCCCAGCA	0.587													-	12642606	C	-	12642606	7	5	235	1	0	1	0	1	0	0	0	0	10087	726	26	0	704	0	MYOCD	17	12642606	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	631451	12642606	68552604	1222	118815											
PMP22	5376	broad.mit.edu	37	chr17	15162426	15162426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgtttggtgatgatgAgaaacagtggtggacatttc	12	7	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:15162426A>G	uc002goj.2	-	2	212	c.163T>C	c.(163-165)TCA>CCA	p.S55P	PMP22_uc002gok.2_Missense_Mutation_p.S55P|PMP22_uc002gol.2_Missense_Mutation_p.S55P	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	55					peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		GGTGATGATGAGAAACAGTGG	0.498													G	15162426	A	G	15162426	3	3	235	1	0	0	0	0	1	0	0	0	12139	304	11	3	331	3	PMP22	17	15162426	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2519820	15162426	66032784	1223	118816											
RAI1	10743	broad.mit.edu	37	chr17	17697948	17697948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgtgacctctcctgaCgacatgtccaccaaatctga	7	13	3	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:17697948C>T	uc002grm.2	+	3	2155	c.1686C>T	c.(1684-1686)GAC>GAT	p.D562D	RAI1_uc002grn.1_Silent_p.D562D	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	562						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCTCCTGACGACATGTCCA	0.617													T	17697948	C	T	17697948	2	4	235	1	0	0	0	0	0	0	0	1	13007	535	19	1		1	RAI1	17	17697948	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2535522	17697948	63497262	1224	118817											
MYO15A	51168	broad.mit.edu	37	chr17	18022933	18022933	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagcccggcctggccaccCtacggcgaccactactacgg	10	18	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18022933C>A	uc010vxh.1	+	2	1157	c.819C>A	c.(817-819)CCC>CCA	p.P273P		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	273	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTGGCCACCCTACGGCGACC	0.662													A	18022933	C	A	18022933	2	1	235	1	0	0	0	0	0	0	0	1	10063	668	24	5		5	MYO15A	17	18022933	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	324985	18022933	63172277	1225	118818											
FLII	2314	broad.mit.edu	37	chr17	18154602	18154602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacaatgtagcagtcagCctcgtagaacttgccgtgga	12	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18154602C>T	uc002gsr.1	-	13	1624	c.1573G>A	c.(1573-1575)GCT>ACT	p.A525T	FLII_uc002gsq.1_Missense_Mutation_p.A396T|FLII_uc010cpy.1_Missense_Mutation_p.A514T|FLII_uc010vxn.1_Missense_Mutation_p.A494T|FLII_uc010vxo.1_Missense_Mutation_p.A470T|FLII_uc002gss.1_Missense_Mutation_p.A524T	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	525	Interaction with ACTL6A.|Gelsolin-like 1.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TAGCAGTCAGCCTCGTAGAAC	0.592													T	18154602	C	T	18154602	3	4	235	1	0	0	0	0	1	0	0	0	5925	739	26	2	2308	2	FLII	17	18154602	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	131669	18154602	63040608	1226	118819											
TRIM16L	147166	broad.mit.edu	37	chr17	18631016	18631016	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgccgagatggagaagaGtaagcaggagctggagacga	18	5	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18631016G>T	uc002gug.1	+	7	833	c.146G>T	c.(145-147)AGT>ATT	p.S49I	TRIM16L_uc010vyf.1_Missense_Mutation_p.S103I|TRIM16L_uc002guh.1_Missense_Mutation_p.S49I|TRIM16L_uc010cqg.1_Missense_Mutation_p.S151I|TRIM16L_uc002gui.1_Missense_Mutation_p.S49I|TRIM16L_uc010vyg.1_Missense_Mutation_p.S49I|TRIM16L_uc010vyh.1_Missense_Mutation_p.S49I	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	49						cytoplasm					0						ATGGAGAAGAGTAAGCAGGAG	0.572													T	18631016	G	T	18631016	3	4	235	1	0	0	0	0	1	0	0	0	16489	1029	36	5	148	5	TRIM16L	17	18631016	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	476414	18631016	62564194	1227	118820											
FAM18B	51030	broad.mit.edu	37	chr17	18707468	18707468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcggtggttatcatgggTgtggtgctacaaggtgccaa	16	7	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18707468T>C	uc002gum.2	+	6	505	c.480T>C	c.(478-480)GGT>GGC	p.G160G	FAM18B_uc002gun.2_Silent_p.G96G	NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN	hypothetical protein LOC51030	160	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)		TTATCATGGGTGTGGTGCTAC	0.453													C	18707468	T	C	18707468	2	2	235	1	0	0	0	0	0	0	0	1	5519	1683	59	3		3	FAM18B	17	18707468	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	76452	18707468	62487742	1228	118821											
SLC5A10	125206	broad.mit.edu	37	chr17	18923170	18923170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacctgcacttcgctgtcGccctctttgcactcagtggt	8	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:18923170G>A	uc002guu.1	+	13	1596	c.1555G>A	c.(1555-1557)GCC>ACC	p.A519T	SLC5A10_uc002gur.1_Missense_Mutation_p.A489T|SLC5A10_uc002gut.1_Missense_Mutation_p.A535T|SLC5A10_uc002guv.1_Missense_Mutation_p.A492T|SLC5A10_uc010vyl.1_Missense_Mutation_p.A483T	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	519	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CTTCGCTGTCGCCCTCTTTGC	0.652													A	18923170	G	A	18923170	3	1	235	1	0	0	0	0	1	0	0	0	14662	1087	38	1	1653	1	SLC5A10	17	18923170	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	215702	18923170	62272040	1229	118822											
CYTSB	92521	broad.mit.edu	37	chr17	20108291	20108291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacatggaaatgcattacGgacatcaggctcctcaagta	8	10	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:20108291G>A	uc002gwq.2	+	4	1074	c.929G>A	c.(928-930)CGG>CAG	p.R310Q	CYTSB_uc010cqx.2_Missense_Mutation_p.R310Q|CYTSB_uc002gwr.2_Missense_Mutation_p.R310Q|CYTSB_uc002gws.2_Missense_Mutation_p.R310Q|CYTSB_uc002gwv.2_Missense_Mutation_p.R229Q|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.R86Q|CYTSB_uc002gwt.2_Missense_Mutation_p.R229Q|CYTSB_uc002gwu.2_Missense_Mutation_p.R229Q	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	310	Ser-rich.					nucleus					0						AATGCATTACGGACATCAGGC	0.453													A	20108291	G	A	20108291	3	1	235	1	0	0	0	0	1	0	0	0	4210	1116	39	1	983	1	CYTSB	17	20108291	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1185121	20108291	61086919	1230	118823											
TMEM11	8834	broad.mit.edu	37	chr17	21101945	21101945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggggtgaagaggcaggCggtgcccgccagcacggccg	18	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:21101945C>T	uc002gyp.2	-	2	714	c.271G>A	c.(271-273)GCC>ACC	p.A91T	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	91	Helical; (Potential).				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						AAGAGGCAGGCGGTGCCCGCC	0.617													T	21101945	C	T	21101945	3	4	235	1	0	0	0	0	1	0	0	0	16023	768	27	1	311	1	TMEM11	17	21101945	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	993654	21101945	60093265	1231	118824											
VTN	7448	broad.mit.edu	37	chr17	26694831	26694831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgttggctcccaagttgCtctcctcactggagaacaag	10	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:26694831C>T	uc002hbc.2	-	7	1378	c.1229G>A	c.(1228-1230)AGC>AAC	p.S410N	SARM1_uc010wah.1_Intron|SEBOX_uc010wai.1_5'Flank|SEBOX_uc010crk.1_5'UTR|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	410					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCCCAAGTTGCTCTCCTCACT	0.582													T	26694831	C	T	26694831	3	4	235	1	0	0	0	0	1	0	0	0	17234	797	28	2	215	2	VTN	17	26694831	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5592886	26694831	54500379	1232	118825											
PIGS	94005	broad.mit.edu	37	chr17	26883896	26883896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattggtggccactggagcGccatccttgtcctgaatgta	12	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:26883896G>A	uc002hbo.2	-	9	1402	c.1029C>T	c.(1027-1029)GGC>GGT	p.G343G	PIGS_uc002hbn.2_Silent_p.G335G|PIGS_uc010wap.1_Silent_p.G282G	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	343	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					CCACTGGAGCGCCATCCTTGT	0.567													A	26883896	G	A	26883896	2	1	235	1	0	0	0	0	0	0	0	1	11898	1074	38	1		1	PIGS	17	26883896	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	189065	26883896	54311314	1233	118826											
ALDOC	230	broad.mit.edu	37	chr17	26901099	26901099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtacctgggacagctgggGgcacagtgcgacgcagggca	17	10	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:26901099G>T	uc002hbp.2	-	7	930	c.785C>A	c.(784-786)CCC>CAC	p.P262H	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.P234H	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	262					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GACAGCTGGGGGCACAGTGCG	0.592													T	26901099	G	T	26901099	3	4	235	1	0	0	0	0	1	0	0	0	509	1232	43	5	321	5	ALDOC	17	26901099	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	17203	26901099	54294111	1234	118827											
SEZ6	124925	broad.mit.edu	37	chr17	27296914	27296915	+	Frame_Shift_Ins	INS	-	-	C													ccaggggcagtgggtcaggcINSccccccaggccttccacagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:27296913_27296914G>GC	uc002hdp.2	-	3	1109_1110	c.915_916C>GC	c.(913-918)gggcctfs	p.G305fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Ins_p.G305fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.G180fs|SEZ6_uc010crz.1_Frame_Shift_Ins_p.G305fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	305						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)			AGTGGGTCAGGCCCCCCCAGGC	0.614													C	27296915	-	C	27296914	7	5	235	1	0	1	1	0	0	0	0	0	14142	726	26	0	2138	0	SEZ6	17	27296914	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	395815	27296914	53898296	1235	118828											
MYO18A	399687	broad.mit.edu	37	chr17	27446378	27446378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccatccccacaggccaGcaggtagtagaagacgttga	13	11	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:27446378G>A	uc002hdt.1	-	8	1962	c.1804C>T	c.(1804-1806)CTG>TTG	p.L602L	MYO18A_uc010wbc.1_Silent_p.L144L|MYO18A_uc002hds.2_Silent_p.L144L|MYO18A_uc010csa.1_Silent_p.L602L|MYO18A_uc002hdu.1_Silent_p.L602L|MYO18A_uc010wbd.1_Silent_p.L271L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	602	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			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)			CCACAGGCCAGCAGGTAGTAG	0.582													A	27446378	G	A	27446378	2	1	235	1	0	0	0	0	0	0	0	1	10065	962	34	2		2	MYO18A	17	27446378	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	149464	27446378	53748832	1236	118829											
CCDC55	84081	broad.mit.edu	37	chr17	28511866	28511866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatgacttcaagcaccacaGgagtcaaaaccactctcggt	8	12	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:28511866G>T	uc002heu.2	+	7	879	c.851G>T	c.(850-852)AGG>ATG	p.R284M	CCDC55_uc002hev.2_Missense_Mutation_p.R230M|CCDC55_uc010wbl.1_Missense_Mutation_p.R230M|CCDC55_uc010wbm.1_Missense_Mutation_p.R230M|CCDC55_uc002hex.2_Missense_Mutation_p.R230M	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	284	His-rich.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						AAGCACCACAGGAGTCAAAAC	0.483													T	28511866	G	T	28511866	3	4	235	1	0	0	0	0	1	0	0	0	2825	1000	35	5	877	5	CCDC55	17	28511866	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1065488	28511866	52683344	1237	118830											
NF1	4763	broad.mit.edu	37	chr17	29553478	29553479	+	Frame_Shift_Ins	INS	-	-	C													gcagcaggatgcagcggaacINSccccccgatttgccgacaag					rs145092683		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:29553477_29553478A>AC	uc002hgg.3	+	17	2409_2410	c.2026_2027A>AC	c.(2026-2028)accfs	p.T676fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	676					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.P678fs*10(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)		ATGCAGCGGAACCCCCCCGATT	0.46			"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)			C	29553479	-	C	29553478	7	5	235	1	0	1	1	0	0	0	0	0	10356	507	18	0	2158	0	NF1	17	29553478	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1041612	29553478	51641732	1238	118831											
MYO1D	4642	broad.mit.edu	37	chr17	31107788	31107788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaatgaacgtatagatgCgccctttttcaaatctgtac	6	11	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:31107788C>T	uc002hho.1	-	2	122	c.110G>A	c.(109-111)CGC>CAC	p.R37H	MYO1D_uc002hhp.1_Missense_Mutation_p.R37H|MYO1D_uc010wcb.1_Missense_Mutation_p.R37H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	37	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGTATAGATGCGCCCTTTTTC	0.413													T	31107788	C	T	31107788	3	4	235	1	0	0	0	0	1	0	0	0	10071	768	27	1	2994	1	MYO1D	17	31107788	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1554310	31107788	50087422	1239	118832											
CCL2	6347	broad.mit.edu	37	chr17	32583268	32583268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgccccagtcacctgctGttataacttcaccaatagga	6	13	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:32583268G>A	uc002hhy.2	+	2	177	c.104G>A	c.(103-105)TGT>TAT	p.C35Y		NM_002982	NP_002973	P13500	CCL2_HUMAN	small inducible cytokine A2 precursor	35				Missing: 90% reduction in activity.|Missing: 83% reduction in activity.	angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			pancreas(1)	1	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GTCACCTGCTGTTATAACTTC	0.423													A	32583268	G	A	32583268	3	1	235	1	0	0	0	0	1	0	0	0	2891	1377	48	4	110	4	CCL2	17	32583268	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1475480	32583268	48611942	1240	118833											
AMAC1	146861	broad.mit.edu	37	chr17	33520747	33520747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccaggaaagcctccaCatagcccagggcggtgtaga	12	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:33520747C>T	uc002hjd.2	-	1	666	c.580G>A	c.(580-582)GTG>ATG	p.V194M		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	194	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		AAAGCCTCCACATAGCCCAGG	0.592													T	33520747	C	T	33520747	3	4	235	1	0	0	0	0	1	0	0	0	559	478	17	4	440	4	AMAC1	17	33520747	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	937479	33520747	47674463	1241	118834											
SLFN13	146857	broad.mit.edu	37	chr17	33771844	33771844	+	Frame_Shift_Del	DEL	A	A	-													tacccgaggttttgaagagcAaaaatgaacaatgggcaact							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:33771843_33771843CA>C	uc002hjk.1	-	0	1187	c.857_857TG>G	c.(856-858)tgcfs	p.C286fs	SLFN13_uc010wch.1_Frame_Shift_Del_p.C286fs|SLFN13_uc002hjl.2_Frame_Shift_Del_p.C286fs|SLFN13_uc002hjm.2_Intron|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	286						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)		TTTTGAAGAGCAAAAATGAAC	0.408													-	33771844	A	-	33771844	7	5	235	1	0	1	0	1	0	0	0	0	14736	130	5	0	1853	0	SLFN13	17	33771844	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	251097	33771844	47423366	1242	118835											
AP2B1	163	broad.mit.edu	37	chr17	33984642	33984642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggtgacagccctgtTggcactaccactgcaacgaa	11	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:33984642T>C	uc002hjr.2	+	14	2010	c.1821T>C	c.(1819-1821)GTT>GTC	p.V607V	AP2B1_uc002hjq.2_Silent_p.V607V|AP2B1_uc010wci.1_Silent_p.V569V|AP2B1_uc002hjs.2_Silent_p.V550V|AP2B1_uc002hjt.2_Silent_p.V607V|AP2B1_uc010ctv.2_Silent_p.V607V|AP2B1_uc010wcj.1_Silent_p.V344V	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	607	Pro-rich (stalk region).				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			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACAGCCCTGTTGGCACTACCA	0.473													C	33984642	T	C	33984642	2	2	235	1	0	0	0	0	0	0	0	1	741	1799	63	3		3	AP2B1	17	33984642	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	212798	33984642	47210568	1243	118836											
MMP28	79148	broad.mit.edu	37	chr17	34100368	34100368	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggagatgctcaggccagttCaccaggcggtaggagaggtg	17	9	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:34100368C>T	uc002hjy.1	-	4	679	c.420G>A	c.(418-420)GTG>GTA	p.V140V	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	140					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGCCAGTTCACCAGGCGGT	0.647													T	34100368	C	T	34100368	2	4	235	1	0	0	0	0	0	0	0	1	9665	813	29	4		4	MMP28	17	34100368	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	115726	34100368	47094842	1244	118837											
RDM1	201299	broad.mit.edu	37	chr17	34249635	34249635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaagccttctgaatagCaagcttctgggctgtcttcc	9	11	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:34249635C>T	uc002hkh.2	-	5	662	c.613G>A	c.(613-615)GCT>ACT	p.A205T	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Missense_Mutation_p.A182T|RDM1_uc002hkg.3_Intron|RDM1_uc010cub.2_RNA|RDM1_uc010cud.2_Intron|RDM1_uc010cuf.2_RNA|RDM1_uc010cue.2_RNA|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_3'UTR|RDM1_uc010wcp.1_Missense_Mutation_p.A182T|RDM1_uc002hki.2_Missense_Mutation_p.A205T	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	205					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCTGAATAGCAAGCTTCTGG	0.373								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	34249635	C	T	34249635	3	4	235	1	0	0	0	0	1	0	0	0	13197	710	25	2	297	2	RDM1	17	34249635	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	149267	34249635	46945575	1245	118838											
SRCIN1	80725	broad.mit.edu	37	chr17	36708254	36708254	+	Frame_Shift_Del	DEL	G	G	-													tgcaggttcagcggggggctGgggggtggcatttcgaagtc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:36708253_36708253TG>T	uc002hqd.3	-	13	2821	c.2596_2596CA>A	c.(2596-2598)agcfs	p.S866fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.S738fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.S720fs|SRCIN1_uc002hqg.3_Frame_Shift_Del_p.S172fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	738	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCGGGGGGCTGGGGGGTGGC	0.617													-	36708254	G	-	36708254	7	5	235	1	0	1	0	1	0	0	0	0	15135	1335	47	0	980	0	SRCIN1	17	36708254	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	2458619	36708254	44486956	1246	118839											
CACNB1	782	broad.mit.edu	37	chr17	37341120	37341121	+	Splice_Site	INS	-	-	G													gggggcacatgctctgtctgINSgggggggaagcagggagggg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:37341119_37341120T>TG	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	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)	ATGCTCTGTCTGGGGGGGGAAG	0.629													G	37341121	-	G	37341120	8	5	235	1	0	1	1	0	0	0	1	0	2552	1363	47	0		0	CACNB1	17	37341120	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	632866	37341120	43854090	1247	118840											
MED1	5469	broad.mit.edu	37	chr17	37565661	37565661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggagctaaagctttgCcggctactgaaataatactg	10	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:37565661C>T	uc002hrv.3	-	17	3025	c.2813G>A	c.(2812-2814)GGC>GAC	p.G938D	MED1_uc010wee.1_Missense_Mutation_p.G766D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	938	Interaction with ESR1.				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			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		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)		TAAAGCTTTGCCGGCTACTGA	0.468										HNSCC(31;0.082)			T	37565661	C	T	37565661	3	4	235	1	0	0	0	0	1	0	0	0	9425	739	26	2	1936	2	MED1	17	37565661	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	224541	37565661	43629549	1248	118841											
STARD3	10948	broad.mit.edu	37	chr17	37815758	37815758	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggccacggcagtggtGgaccagatcttggcccagga	16	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:37815758G>T	uc002hsd.2	+	9	871	c.747G>T	c.(745-747)GTG>GTT	p.V249V	STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Silent_p.V231V|STARD3_uc010wei.1_Silent_p.V249V|STARD3_uc002hsf.2_Silent_p.V115V|STARD3_uc002hsg.2_Silent_p.V82V	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	249	START.|Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	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)			CGGCAGTGGTGGACCAGATCT	0.582													T	37815758	G	T	37815758	2	4	235	1	0	0	0	0	0	0	0	1	15256	1335	47	5		5	STARD3	17	37815758	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	250097	37815758	43379452	1249	118842											
KRT40	125115	broad.mit.edu	37	chr17	39140460	39140460	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggagcagcttgaggcaggTgcacaaccggaagccgtgcc	15	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:39140460T>C	uc010cxh.1	-	3	227	c.66A>G	c.(64-66)GCA>GCG	p.A22A	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	22	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				TTGAGGCAGGTGCACAACCGG	0.567													C	39140460	T	C	39140460	2	2	235	1	0	0	0	0	0	0	0	1	8478	1683	59	3		3	KRT40	17	39140460	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1324702	39140460	42054750	1250	118843											
KLHL11	55175	broad.mit.edu	37	chr17	40010508	40010508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaataagcggcaaagattcCacatcttgccactgtcgagt	8	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:40010508C>T	uc002hyf.1	-	2	1617	c.1611G>A	c.(1609-1611)GTG>GTA	p.V537V		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	537	Kelch 4.					extracellular region					0		Breast(137;0.00156)				GCAAAGATTCCACATCTTGCC	0.418													T	40010508	C	T	40010508	2	4	235	1	0	0	0	0	0	0	0	1	8367	581	21	4		4	KLHL11	17	40010508	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	870048	40010508	41184702	1251	118844											
DHX58	79132	broad.mit.edu	37	chr17	40255748	40255748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccactgggaactgctgCcgctggttctcccgctgggc	13	15	1	0	rs141850808	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:40255748C>T	uc002hyw.3	-	12	1855	c.1632G>A	c.(1630-1632)CGG>CGA	p.R544R	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Silent_p.R537R	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	544	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAACTGCTGCCGCTGGTTCT	0.667													T	40255748	C	T	40255748	2	4	235	1	0	0	0	0	0	0	0	1	4514	726	26	2		2	DHX58	17	40255748	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	245240	40255748	40939462	1252	118845											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825750	40825750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgcccctttcccgctgCtgctgaactgatccagggag	12	16	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:40825750C>T	uc002iau.2	-	4	868	c.401G>A	c.(400-402)AGC>AAC	p.S134N	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.S134N	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	134	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TTTCCCGCTGCTGCTGAACTG	0.716													T	40825750	C	T	40825750	3	4	235	1	0	0	0	0	1	0	0	0	12078	797	28	2	2020	2	PLEKHH3	17	40825750	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	570002	40825750	40369460	1253	118846											
DHX8	1659	broad.mit.edu	37	chr17	41599488	41599488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgcagtgggttcttcCgtaatgctgccaagaaagac	10	11	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:41599488C>T	uc002idu.1	+	22	3410	c.3337C>T	c.(3337-3339)CGT>TGT	p.R1113C	DHX8_uc010wig.1_Missense_Mutation_p.R1113C	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1113						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGGGTTCTTCCGTAATGCTGC	0.517													T	41599488	C	T	41599488	3	4	235	1	0	0	0	0	1	0	0	0	4515	652	23	1	3423	1	DHX8	17	41599488	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	773738	41599488	39595722	1254	118847											
MPP2	4355	broad.mit.edu	37	chr17	41958079	41958079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcaccgtggtgccatagCgatctggatcccacatgatg	13	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:41958079C>T	uc010wip.1	-	10	1322	c.1265G>A	c.(1264-1266)CGC>CAC	p.R422H	MPP2_uc002ien.1_Missense_Mutation_p.R394H|MPP2_uc010wim.1_Missense_Mutation_p.R366H|MPP2_uc002ieo.1_Missense_Mutation_p.R377H|MPP2_uc010win.1_Missense_Mutation_p.R238H|MPP2_uc010wio.1_Missense_Mutation_p.R366H	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	401	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGTGCCATAGCGATCTGGATC	0.662											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	41958079	C	T	41958079	3	4	235	1	0	0	0	0	1	0	0	0	9734	768	27	1	544	1	MPP2	17	41958079	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	358591	41958079	39237131	1255	118848											
C17orf53	78995	broad.mit.edu	37	chr17	42225763	42225763	+	Frame_Shift_Del	DEL	A	A	-													gggagggttcagtattggctAaaaaagcccgggtagttgat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42225763delA	uc002ifi.1	+	3	777	c.592delA	c.(592-594)AAAfs	p.K198fs	C17orf53_uc010czq.1_Frame_Shift_Del_p.K198fs|C17orf53_uc002ifj.1_Frame_Shift_Del_p.K198fs|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	198											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGTATTGGCTAAAAAAGCCCG	0.567													-	42225763	A	-	42225763	7	5	235	1	0	1	0	1	0	0	0	0	1862	363	13	0	602	0	C17orf53	17	42225763	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	267684	42225763	38969447	1256	118849											
SLC4A1	6521	broad.mit.edu	37	chr17	42338116	42338116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagttgcacccagcgcGccgcctccatccatctcagc	7	21	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42338116G>A	uc002igf.3	-	5	385	c.236C>T	c.(235-237)GCG>GTG	p.A79V	SLC4A1_uc002igg.3_Missense_Mutation_p.A79V	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	79	Cytoplasmic.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CACCCAGCGCGCCGCCTCCAT	0.617													A	42338116	G	A	42338116	3	1	235	1	0	0	0	0	1	0	0	0	14650	1087	38	1	2563	1	SLC4A1	17	42338116	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	112353	42338116	38857094	1257	118850											
ITGA2B	3674	broad.mit.edu	37	chr17	42452962	42452962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagagcctgctcactacGagaactggatcctgaagcct	10	13	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42452962G>A	uc002igt.1	-	26	2756	c.2724C>T	c.(2722-2724)CTC>CTT	p.L908L	ITGA2B_uc002igu.1_Silent_p.L389L	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	908	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGCTCACTACGAGAACTGGAT	0.682													A	42452962	G	A	42452962	2	1	235	1	0	0	0	0	0	0	0	1	7876	1045	37	1		1	ITGA2B	17	42452962	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	114846	42452962	38742248	1258	118851											
ITGA2B	3674	broad.mit.edu	37	chr17	42457392	42457392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaggccatggtggtgTggcagatggggctgtgcttt	19	5	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42457392T>C	uc002igt.1	-	17	1762	c.1730A>G	c.(1729-1731)CAC>CGC	p.H577R	ITGA2B_uc002igu.1_Missense_Mutation_p.H58R	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	577	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CATGGTGGTGTGGCAGATGGG	0.642													C	42457392	T	C	42457392	3	2	235	1	0	0	0	0	1	0	0	0	7876	1696	59	3	1445	3	ITGA2B	17	42457392	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	4430	42457392	38737818	1259	118852											
GPATCH8	23131	broad.mit.edu	37	chr17	42483339	42483339	+	Frame_Shift_Del	DEL	T	T	-													tcatggagccgccgaagggcTttttcctgttttttctcatc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:42483339delT	uc002igw.1	-	7	637	c.573delA	c.(571-573)AAAfs	p.K191fs	GPATCH8_uc002igv.1_Frame_Shift_Del_p.K113fs|GPATCH8_uc010wiz.1_Frame_Shift_Del_p.K113fs	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	191						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCCGAAGGGCTTTTTCCTGTT	0.393													-	42483339	T	-	42483339	7	5	235	1	0	1	0	1	0	0	0	0	6594	1606	56	0	3943	0	GPATCH8	17	42483339	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	25947	42483339	38711871	1260	118853											
KIF18B	146909	broad.mit.edu	37	chr17	43005605	43005605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactgtggctgggcaaaCgcgaggggaatggcaggggg	21	6	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:43005605C>T	uc010wji.1	-	13	2175	c.2074G>A	c.(2074-2076)GTT>ATT	p.V692I	KIF18B_uc002iht.2_Missense_Mutation_p.V701I|KIF18B_uc010wjh.1_Missense_Mutation_p.V689I	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				GCTGGGCAAACGCGAGGGGAA	0.652													T	43005605	C	T	43005605	3	4	235	1	0	0	0	0	1	0	0	0	8281	536	19	1	508	1	KIF18B	17	43005605	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	522266	43005605	38189605	1261	118854											
C1QL1	10882	broad.mit.edu	37	chr17	43044936	43044936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaacttgccgctggccgCgtcgtagttgttgcctaggt	13	11	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:43044936C>T	uc002ihv.2	-	1	709	c.481G>A	c.(481-483)GCG>ACG	p.A161T		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	161	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				CCGCTGGCCGCGTCGTAGTTG	0.602													T	43044936	C	T	43044936	3	4	235	1	0	0	0	0	1	0	0	0	1958	768	27	1	303	1	C1QL1	17	43044936	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	39331	43044936	38150274	1262	118855											
KIAA1267	284058	broad.mit.edu	37	chr17	44109601	44109601	+	Frame_Shift_Del	DEL	G	G	-													gacatcaggggaggcaggctGgggggtggaggggttggcac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:44109601delG	uc002ikb.2	-	13	2987	c.2902delC	c.(2902-2904)CAGfs	p.Q968fs	KIAA1267_uc002ikc.2_Frame_Shift_Del_p.Q968fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.Q968fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.Q967fs|KIAA1267_uc010wkb.1_Frame_Shift_Del_p.Q299fs|KIAA1267_uc010wkc.1_Frame_Shift_Del_p.Q236fs	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	968						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GAGGCAGGCTGGGGGGTGGAG	0.607													-	44109601	G	-	44109601	7	5	235	1	0	1	0	1	0	0	0	0	8219	1357	47	0	423	0	KIAA1267	17	44109601	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1064665	44109601	37085609	1263	118856											
SP2	6668	broad.mit.edu	37	chr17	46002810	46002810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgcccatgtgcgcctGcacactggcgagcggccctt	13	16	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:46002810G>A	uc002imk.2	+	6	1781	c.1644G>A	c.(1642-1644)CTG>CTA	p.L548L	SP2_uc002iml.2_Silent_p.L541L	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	548	C2H2-type 1.				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						ATGTGCGCCTGCACACTGGCG	0.602													A	46002810	G	A	46002810	2	1	235	1	0	0	0	0	0	0	0	1	14964	1306	46	2		2	SP2	17	46002810	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1893209	46002810	35192400	1264	118857											
B4GALNT2	124872	broad.mit.edu	37	chr17	47237944	47237944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtccaggtcctcagtggCcaagtttccagtgaccatcc	11	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:47237944C>T	uc002ion.2	+	7	946	c.887C>T	c.(886-888)GCC>GTC	p.A296V	B4GALNT2_uc010wlt.1_Missense_Mutation_p.A210V|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A236V	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	296	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			TCCTCAGTGGCCAAGTTTCCA	0.557													T	47237944	C	T	47237944	3	4	235	1	0	0	0	0	1	0	0	0	1267	739	26	2	931	2	B4GALNT2	17	47237944	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1235134	47237944	33957266	1265	118858											
GNGT2	2793	broad.mit.edu	37	chr17	47284191	47284191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcctttgagaaaaggatcGtttcctgcttgggcctccac	10	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:47284191G>A	uc002ioo.1	-	4	445	c.138C>T	c.(136-138)AAC>AAT	p.N46N		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	46					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GAAAAGGATCGTTTCCTGCTT	0.493													A	47284191	G	A	47284191	2	1	235	1	0	0	0	0	0	0	0	1	6534	1136	40	1		1	GNGT2	17	47284191	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	46247	47284191	33911019	1266	118859											
COL1A1	1277	broad.mit.edu	37	chr17	48263139	48263139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggattctgggcactcacCgtgcagccatcgacagtgac	13	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:48263139C>T	uc002iqm.2	-	50	4374	c.4248G>A	c.(4246-4248)ACG>ACA	p.T1416T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1416	Fibrillar collagen NC1.				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(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGGCACTCACCGTGCAGCCAT	0.632			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						T	48263139	C	T	48263139	2	4	235	1	0	0	0	0	0	0	0	1	3677	666	23	1		1	COL1A1	17	48263139	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	978948	48263139	32932071	1267	118860											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	235	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	170828	48433967	32761243	1268	118861											
SPAG9	9043	broad.mit.edu	37	chr17	49057239	49057239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacccacgcaagctgtcGcacttggctctccttcctgg	8	19	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:49057239G>A	uc002itc.2	-	26	3486	c.3277C>T	c.(3277-3279)CGA>TGA	p.R1093*	SPAG9_uc002itb.2_Nonsense_Mutation_p.R1079*|SPAG9_uc002itd.2_Nonsense_Mutation_p.R1083*|SPAG9_uc002ita.2_Nonsense_Mutation_p.R936*	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1093					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCAAGCTGTCGCACTTGGCTC	0.448													A	49057239	G	A	49057239	4	1	235	1	0	0	0	0	0	1	0	0	14985	1095	38	1	708	1	SPAG9	17	49057239	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	623272	49057239	32137971	1269	118862											
SPAG9	9043	broad.mit.edu	37	chr17	49067893	49067893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccttctgcagaacaaccAaccactgtgatgcctcctaa	5	15	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:49067893A>G	uc002itc.2	-	20	2744	c.2535T>C	c.(2533-2535)GTT>GTC	p.V845V	SPAG9_uc002itb.2_Silent_p.V831V|SPAG9_uc002itd.2_Silent_p.V835V|SPAG9_uc002itf.2_Silent_p.V666V|SPAG9_uc002ita.2_Silent_p.V688V|SPAG9_uc002ite.2_Silent_p.V675V	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	845					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAGAACAACCAACCACTGTGA	0.468													G	49067893	A	G	49067893	2	3	235	1	0	0	0	0	0	0	0	1	14985	117	5	3		3	SPAG9	17	49067893	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	10654	49067893	32127317	1270	118863											
EPX	8288	broad.mit.edu	37	chr17	56272511	56272511	+	Frame_Shift_Del	DEL	C	C	-													agaggacctgcgcccagctgCccccctgctttcccatcaag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56272511delC	uc002ivq.2	+	6	867	c.781delC	c.(781-783)CCCfs	p.P261fs		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	261					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CGCCCAGCTGCCCCCCTGCTT	0.627													-	56272511	C	-	56272511	7	5	235	1	0	1	0	1	0	0	0	0	5200	739	26	0	803	0	EPX	17	56272511	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	7204618	56272511	24922699	1271	118864											
BZRAP1	9256	broad.mit.edu	37	chr17	56389688	56389688	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccccagggcctgtcGcagctccccattcacacaga	9	19	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56389688G>A	uc002ivx.3	-	17	3365	c.2494C>T	c.(2494-2496)CGA>TGA	p.R832*	BZRAP1_uc010dcs.2_Nonsense_Mutation_p.R772*|BZRAP1_uc010wnt.1_Nonsense_Mutation_p.R832*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	832	Fibronectin type-III 1.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGCCTGTCGCAGCTCCCCA	0.667													A	56389688	G	A	56389688	4	1	235	1	0	0	0	0	0	1	0	0	1577	1095	38	1	3139	1	BZRAP1	17	56389688	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	117177	56389688	24805522	1272	118865											
RNF43	54894	broad.mit.edu	37	chr17	56448298	56448299	+	Frame_Shift_Ins	INS	-	-	G													gccagtgacaggcaggggcgINSgggggcccgtcgaggactct					rs2257205	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56448297_56448298C>CG	uc002iwf.3	-	1	2305_2306	c.349_350G>CG	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Ins_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			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)					CAGGCAGGGGCGGGGGGCCCGT	0.604													G	56448299	-	G	56448298	7	5	235	1	0	1	1	0	0	0	0	0	13495	1116	39	0	2034	0	RNF43	17	56448298	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	58610	56448298	24746912	1273	118866											
C17orf47	284083	broad.mit.edu	37	chr17	56620549	56620549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggagatggtgaccctGcggccaacctcgctgtttcc	13	14	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:56620549G>A	uc002iwq.1	-	1	1135	c.999C>T	c.(997-999)CGC>CGT	p.R333R	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	333										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGACCCTGCGGCCAACCT	0.542													A	56620549	G	A	56620549	2	1	235	1	0	0	0	0	0	0	0	1	1858	1306	46	2		2	C17orf47	17	56620549	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	172251	56620549	24574661	1274	118867											
DHX40	79665	broad.mit.edu	37	chr17	57682875	57682875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttaccaccaaagtctaCgcaagaattgtatgcccaat	7	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:57682875C>T	uc002ixn.1	+	17	2187	c.2040C>T	c.(2038-2040)TAC>TAT	p.Y680Y	DHX40_uc010woe.1_Silent_p.Y603Y|DHX40_uc010wof.1_Silent_p.Y195Y	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	680							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAAAGTCTACGCAAGAATTG	0.388													T	57682875	C	T	57682875	2	4	235	1	0	0	0	0	0	0	0	1	4512	547	19	1		1	DHX40	17	57682875	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1062326	57682875	23512335	1275	118868											
USP32	84669	broad.mit.edu	37	chr17	58262986	58262986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcgctcgccgactctgCtccacactctcatgctcatc	7	18	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:58262986C>A	uc002iyo.1	-	30	3955	c.3669G>T	c.(3667-3669)GAG>GAT	p.E1223D	USP32_uc002iyn.1_Missense_Mutation_p.E893D	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1223					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCCGACTCTGCTCCACACTCT	0.527													A	58262986	C	A	58262986	3	1	235	1	0	0	0	0	1	0	0	0	17060	796	28	5	1165	5	USP32	17	58262986	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	580111	58262986	22932224	1276	118869											
METTL2A	339175	broad.mit.edu	37	chr17	60503764	60503764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttaccgaattccctgagCtggcacctagccaaaatcaa	6	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:60503764C>T	uc002izv.2	+	3	325	c.307C>T	c.(307-309)CTG>TTG	p.L103L	METTL2A_uc002izw.2_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	103							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ATTCCCTGAGCTGGCACCTAG	0.393													T	60503764	C	T	60503764	2	4	235	1	0	0	0	0	0	0	0	1	9499	796	28	2		2	METTL2A	17	60503764	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2240778	60503764	20691446	1277	118870											
MRC2	9902	broad.mit.edu	37	chr17	60768444	60768444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggctatggcgccccggcGcttgcaccaacatcaccatg	12	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:60768444G>A	uc002jad.2	+	28	4549	c.4147G>A	c.(4147-4149)GCT>ACT	p.A1383T	MRC2_uc002jae.2_Missense_Mutation_p.A454T|MRC2_uc002jaf.2_Missense_Mutation_p.A249T	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1383	Extracellular (Potential).|C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCGCCCCGGCGCTTGCACCAA	0.662													A	60768444	G	A	60768444	3	1	235	1	0	0	0	0	1	0	0	0	9758	1087	38	1	4257	1	MRC2	17	60768444	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	264680	60768444	20426766	1278	118871											
MARCH10	162333	broad.mit.edu	37	chr17	60879085	60879085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttctgcctgtcccttgcGtcatgcaacatgattcctaa	6	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:60879085G>A	uc010ddr.2	-	2	250	c.12C>T	c.(10-12)GAC>GAT	p.D4D	MARCH10_uc002jag.3_Silent_p.D4D|MARCH10_uc010dds.2_Silent_p.D4D|MARCH10_uc002jah.2_Silent_p.D4D	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	4							ligase activity|zinc ion binding				0						TGTCCCTTGCGTCATGCAACA	0.438													A	60879085	G	A	60879085	2	1	235	1	0	0	0	0	0	0	0	1	9299	1136	40	1		1	MARCH10	17	60879085	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	110641	60879085	20316125	1279	118872											
ACE	1636	broad.mit.edu	37	chr17	61574216	61574216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccatgcagctgatcacGggccagcccaacatgagcgc	12	14	1	2	rs141429845		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:61574216G>A	uc002jau.1	+	24	3583	c.3561G>A	c.(3559-3561)ACG>ACA	p.T1187T	ACE_uc002jav.1_Silent_p.T613T|ACE_uc010ddv.1_Silent_p.T414T|ACE_uc010wpj.1_Silent_p.T572T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Silent_p.T392T	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1187	Extracellular (Potential).|Peptidase M2 2.				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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	AGCTGATCACGGGCCAGCCCA	0.632													A	61574216	G	A	61574216	2	1	235	1	0	0	0	0	0	0	0	1	136	1103	39	1		1	ACE	17	61574216	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	695131	61574216	19620994	1280	118873											
SCN4A	6329	broad.mit.edu	37	chr17	62041916	62041916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcggccagggtggccTcattctgctcggcatatgcc	11	14	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:62041916T>C	uc002jds.1	-	9	1441	c.1364A>G	c.(1363-1365)GAG>GGG	p.E455G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	455					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CAGGGTGGCCTCATTCTGCTC	0.522													C	62041916	T	C	62041916	3	2	235	1	0	0	0	0	1	0	0	0	13920	1551	54	3	4210	3	SCN4A	17	62041916	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	467700	62041916	19153294	1281	118874											
ERN1	2081	broad.mit.edu	37	chr17	62149396	62149396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagactatctgcaaaggcCgatgacaaagtctgctgctt	10	10	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:62149396C>T	uc002jdz.2	-	6	536	c.423G>A	c.(421-423)TCG>TCA	p.S141S		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	141	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CTGCAAAGGCCGATGACAAAG	0.453													T	62149396	C	T	62149396	2	4	235	1	0	0	0	0	0	0	0	1	5237	639	23	1		1	ERN1	17	62149396	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	107480	62149396	19045814	1282	118875											
CACNG5	27091	broad.mit.edu	37	chr17	64881248	64881248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagacgcctgggtcagggGccgcagcccctccgacatct	12	18	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:64881248G>A	uc010wqi.1	+	6	956	c.719G>A	c.(718-720)GGC>GAC	p.G240D	CACNG5_uc010wqj.1_Missense_Mutation_p.G240D	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	240				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGGTCAGGGGCCGCAGCCCC	0.617													A	64881248	G	A	64881248	3	1	235	1	0	0	0	0	1	0	0	0	2560	1203	42	2	1054	2	CACNG5	17	64881248	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2731852	64881248	16313962	1283	118876											
SLC39A11	201266	broad.mit.edu	37	chr17	71084850	71084850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgctgtcatcccccaGgtgaagaaggtccccagcaa	10	15	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:71084850G>A	uc002jjb.2	-	2	169	c.54C>T	c.(52-54)ACC>ACT	p.T18T	SLC39A11_uc002jja.2_Silent_p.T18T|SLC39A11_uc002jjc.1_Silent_p.T18T	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	18	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						TCATCCCCCAGGTGAAGAAGG	0.592													A	71084850	G	A	71084850	2	1	235	1	0	0	0	0	0	0	0	1	14614	987	35	4		4	SLC39A11	17	71084850	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6203602	71084850	10110360	1284	118877											
SDK2	54549	broad.mit.edu	37	chr17	71389713	71389713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccatcatccagcgtcCgctccaggatgggagggtgg	13	13	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:71389713C>T	uc010dfm.2	-	27	3884	c.3884G>A	c.(3883-3885)CGG>CAG	p.R1295Q	SDK2_uc002jjt.3_Missense_Mutation_p.R454Q|SDK2_uc010dfn.2_Missense_Mutation_p.R974Q	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1295	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						ATCCAGCGTCCGCTCCAGGAT	0.642													T	71389713	C	T	71389713	3	4	235	1	0	0	0	0	1	0	0	0	13969	652	23	1	2710	1	SDK2	17	71389713	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	304863	71389713	9805497	1285	118878											
SDK2	54549	broad.mit.edu	37	chr17	71427647	71427647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcacactcaccccaaaCgactaggtctgctgaggcct	8	16	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:71427647C>T	uc010dfm.2	-	11	1474	c.1474G>A	c.(1474-1476)GTT>ATT	p.V492I	SDK2_uc010dfn.2_Missense_Mutation_p.V171I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	492	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TCACCCCAAACGACTAGGTCT	0.597													T	71427647	C	T	71427647	3	4	235	1	0	0	0	0	1	0	0	0	13969	536	19	1	5184	1	SDK2	17	71427647	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	37934	71427647	9767563	1286	118879											
KIF19	124602	broad.mit.edu	37	chr17	72344014	72344014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccctgacctacgccggCcgggccaagaacattaagac	9	15	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:72344014C>T	uc002jkm.3	+	9	1161	c.1023C>T	c.(1021-1023)GGC>GGT	p.G341G	KIF19_uc002jkj.2_Silent_p.G341G|KIF19_uc002jkk.2_Silent_p.G299G|KIF19_uc002jkl.2_Silent_p.G299G	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	341					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CCTACGCCGGCCGGGCCAAGA	0.622													T	72344014	C	T	72344014	2	4	235	1	0	0	0	0	0	0	0	1	8282	726	26	2		2	KIF19	17	72344014	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	916367	72344014	8851196	1287	118880											
BTBD17	388419	broad.mit.edu	37	chr17	72356374	72356374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctccccgccaacatcGgctctctgtgctgcagcagg	11	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:72356374G>A	uc002jkn.2	-	2	96	c.96C>T	c.(94-96)GCC>GCT	p.A32A		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	32						extracellular region					0						CGCCAACATCGGCTCTCTGTG	0.642													A	72356374	G	A	72356374	2	1	235	1	0	0	0	0	0	0	0	1	1542	1103	39	1		1	BTBD17	17	72356374	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	12360	72356374	8838836	1288	118881											
KIAA0195	9772	broad.mit.edu	37	chr17	73487495	73487495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagcagccatgaggacCtcaccgatggcctatccacc	8	17	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73487495C>A	uc002jnz.3	+	13	1620	c.1345C>A	c.(1345-1347)CTC>ATC	p.L449I	KIAA0195_uc010wsa.1_Missense_Mutation_p.L459I|KIAA0195_uc010wsb.1_Missense_Mutation_p.L101I	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	449					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			CCATGAGGACCTCACCGATGG	0.622													A	73487495	C	A	73487495	3	1	235	1	0	0	0	0	1	0	0	0	8160	681	24	5	1391	5	KIAA0195	17	73487495	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1131121	73487495	7707715	1289	118882											
KIAA0195	9772	broad.mit.edu	37	chr17	73488711	73488711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcacctccctcaaacccCtgggcctcaatgtgctgctg	7	18	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73488711C>A	uc002jnz.3	+	15	2028	c.1753C>A	c.(1753-1755)CTG>ATG	p.L585M	KIAA0195_uc010wsa.1_Missense_Mutation_p.L595M|KIAA0195_uc010wsb.1_Missense_Mutation_p.L225M|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	585					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			CCTCAAACCCCTGGGCCTCAA	0.607													A	73488711	C	A	73488711	3	1	235	1	0	0	0	0	1	0	0	0	8160	680	24	5	1807	5	KIAA0195	17	73488711	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1216	73488711	7706499	1290	118883											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					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)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	235	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	2352	73491063	7704147	1291	118884											
CASKIN2	57513	broad.mit.edu	37	chr17	73498973	73498974	+	Frame_Shift_Ins	INS	-	-	G													tctgggaggttcctctcctgINSgggggggctgggatctccac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73498972_73498973T>TG	uc002joc.3	-	17	2732_2733	c.2182_2183A>CA	c.(2182-2184)cagfs	p.Q728fs	CASKIN2_uc010wsc.2_Frame_Shift_Ins_p.Q646fs	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	728	Pro-rich.					cytoplasm		p.Q728fs*74(2)		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)			GTTCCTCTCCTGGGGGGGGCTG	0.649													G	73498974	-	G	73498973	7	5	235	1	0	1	1	0	0	0	0	0	2667	1357	47	0	1438	0	CASKIN2	17	73498973	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	7910	73498973	7696237	1292	118885											
RECQL5	9400	broad.mit.edu	37	chr17	73627305	73627305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctctgccttcatccccGctgcctccagaaccttcgtc	5	19	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73627305G>A	uc010dgl.2	-	10	1629	c.1473C>T	c.(1471-1473)AGC>AGT	p.S491S	RECQL5_uc010dgk.2_Silent_p.S464S|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	491					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			CTTCATCCCCGCTGCCTCCAG	0.617								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	73627305	G	A	73627305	2	1	235	1	0	0	0	0	0	0	0	1	13203	1078	38	1		1	RECQL5	17	73627305	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	128332	73627305	7567905	1293	118886											
ITGB4	3691	broad.mit.edu	37	chr17	73729750	73729750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacttccagtgtccccGcacttccgggttcctctgca	8	16	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73729750G>A	uc002jpg.2	+	13	1821	c.1634G>A	c.(1633-1635)CGC>CAC	p.R545H	ITGB4_uc002jph.2_Missense_Mutation_p.R545H|ITGB4_uc010dgo.2_Missense_Mutation_p.R545H|ITGB4_uc002jpi.3_Missense_Mutation_p.R545H|ITGB4_uc010dgp.1_Missense_Mutation_p.R545H|ITGB4_uc002jpj.2_Missense_Mutation_p.R545H|ITGB4_uc010wsh.1_Missense_Mutation_p.R100H	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	545	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.				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			lung(4)	4	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)			CAGTGTCCCCGCACTTCCGGG	0.617													A	73729750	G	A	73729750	3	1	235	1	0	0	0	0	1	0	0	0	7897	1087	38	1	1680	1	ITGB4	17	73729750	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	102445	73729750	7465460	1294	118887											
UNK	85451	broad.mit.edu	37	chr17	73805973	73805973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtccatccgccgtcgggaCggcaccttcaattacagccc	10	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73805973C>T	uc002jpm.2	+	3	465	c.465C>T	c.(463-465)GAC>GAT	p.D155D		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	79							nucleic acid binding|zinc ion binding				0			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)			GCCGTCGGGACGGCACCTTCA	0.622													T	73805973	C	T	73805973	2	4	235	1	0	0	0	0	0	0	0	1	16997	535	19	1		1	UNK	17	73805973	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	76223	73805973	7389237	1295	118888											
MRPL38	64978	broad.mit.edu	37	chr17	73895038	73895038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtggtaagggggcggccGcacgaactcaaacaccggct	17	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:73895038G>A	uc010wso.1	-	9	1261	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	346						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCGGCCGCACGAACTCA	0.667													A	73895038	G	A	73895038	3	1	235	1	0	0	0	0	1	0	0	0	9801	1086	38	1	110	1	MRPL38	17	73895038	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	89065	73895038	7300172	1296	118889											
EVPL	2125	broad.mit.edu	37	chr17	74003199	74003199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtcagcgaagggagcgCgggacggtgggggaggcgga	23	8	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:74003199C>T	uc002jqi.2	-	22	6315	c.6087G>A	c.(6085-6087)CCG>CCA	p.P2029P	EVPL_uc010wss.1_Silent_p.P2051P|EVPL_uc010wst.1_Silent_p.P1499P	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	2029	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GAAGGGAGCGCGGGACGGTGG	0.682													T	74003199	C	T	74003199	2	4	235	1	0	0	0	0	0	0	0	1	5292	755	27	1		1	EVPL	17	74003199	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	108161	74003199	7192011	1297	118890											
EXOC7	23265	broad.mit.edu	37	chr17	74079821	74079821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggttcttggtgaagggcaCgctgccaaacctgaggaggc	16	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:74079821C>T	uc002jqs.2	-	20	2211	c.2116G>A	c.(2116-2118)GTG>ATG	p.V706M	EXOC7_uc002jqp.1_Silent_p.A167A|EXOC7_uc010dgv.1_Missense_Mutation_p.V580M|EXOC7_uc002jqq.2_Missense_Mutation_p.V655M|EXOC7_uc010wsw.1_Missense_Mutation_p.V678M|EXOC7_uc010wsx.1_Missense_Mutation_p.V647M|EXOC7_uc002jqr.2_Missense_Mutation_p.V624M|EXOC7_uc010wsv.1_Missense_Mutation_p.V627M	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	706					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAAGGGCACGCTGCCAAAC	0.612													T	74079821	C	T	74079821	3	4	235	1	0	0	0	0	1	0	0	0	5310	536	19	1	95	1	EXOC7	17	74079821	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	76622	74079821	7115389	1298	118891											
FOXJ1	2302	broad.mit.edu	37	chr17	74133820	74133820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgctcctccggggtggGcagcagggtgctggggggcc	19	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:74133820G>A	uc002jqw.2	-	2	970	c.880C>T	c.(880-882)CCC>TCC	p.P294S	FOXJ1_uc002jqx.2_Missense_Mutation_p.P294S|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	294					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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCGGGGTGGGCAGCAGGGTG	0.706													A	74133820	G	A	74133820	3	1	235	1	0	0	0	0	1	0	0	0	6011	1203	42	2	389	2	FOXJ1	17	74133820	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	53999	74133820	7061390	1299	118892											
GAA	2548	broad.mit.edu	37	chr17	78081640	78081640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaccctttctacctggcGctggaggacggcgggtcggc	14	14	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:78081640G>A	uc002jxo.2	+	6	1082	c.900G>A	c.(898-900)GCG>GCA	p.A300A	GAA_uc002jxp.2_Silent_p.A300A|GAA_uc002jxq.2_Silent_p.A300A	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	300					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TCTACCTGGCGCTGGAGGACG	0.652													A	78081640	G	A	78081640	2	1	235	1	0	0	0	0	0	0	0	1	6147	1074	38	1		1	GAA	17	78081640	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3947820	78081640	3113570	1300	118893											
AZI1	22994	broad.mit.edu	37	chr17	79180662	79180662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaggtgaagccccgggGctggtcatcctgtcagacag	15	11	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:79180662G>A	uc002jzp.1	-	5	597	c.397C>T	c.(397-399)CCC>TCC	p.P133S	AZI1_uc002jzn.1_Missense_Mutation_p.P133S|AZI1_uc002jzo.1_Missense_Mutation_p.P133S|AZI1_uc010wum.1_Missense_Mutation_p.P133S	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	133					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGCCCCGGGGCTGGTCATCC	0.652													A	79180662	G	A	79180662	3	1	235	1	0	0	0	0	1	0	0	0	1240	1203	42	2	2933	2	AZI1	17	79180662	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1099022	79180662	2014548	1301	118894											
WDR45L	56270	broad.mit.edu	37	chr17	80585121	80585121	+	Frame_Shift_Del	DEL	T	T	-													gccttgacttctgtagaaaaTtctatttcaataacagtctt					rs143489463		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:80585121delT	uc002kfq.2	-	4	486	c.291delA	c.(289-291)GAAfs	p.E97fs	WDR45L_uc002kfr.2_RNA	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	97					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			CTGTAGAAAATTCTATTTCAA	0.408													-	80585121	T	-	80585121	7	5	235	1	0	1	0	1	0	0	0	0	17295	1490	52	0	771	0	WDR45L	17	80585121	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	1404459	80585121	610089	1302	118895											
ZNF750	79755	broad.mit.edu	37	chr17	80788099	80788099	+	Frame_Shift_Del	DEL	T	T	-													ttcttagctccttgctgggaTtttccagcatcccttagact							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr17:80788099delT	uc002kga.2	-	3	2402	c.2091delA	c.(2089-2091)AAAfs	p.K697fs	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	697						intracellular	zinc ion binding			central_nervous_system(1)	1	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)			CTTGCTGGGATTTTCCAGCAT	0.572													-	80788099	T	-	80788099	7	5	235	1	0	1	0	1	0	0	0	0	18129	1490	52	0	84	0	ZNF750	17	80788099	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	202978	80788099	407111	1303	118896											
USP14	9097	broad.mit.edu	37	chr18	211172	211172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacaaagtcagcatcgTaacaccagaagatatcttac	7	9	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:211172T>C	uc002kkf.1	+	16	1589	c.1373T>C	c.(1372-1374)GTA>GCA	p.V458A	USP14_uc002kkg.1_Missense_Mutation_p.V423A|USP14_uc010wyr.1_Missense_Mutation_p.V447A	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	458					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTCAGCATCGTAACACCAGAA	0.413													C	211172	T	C	211172	3	2	235	1	0	0	0	0	1	0	0	0	17042	1638	57	3	1435	3	USP14	18	211172	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08		211172	77866076	1304	118897											
DLGAP1	9229	broad.mit.edu	37	chr18	3879562	3879562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctgcgcctcgtcaggGctggccttgcccccgttgac	13	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:3879562G>A	uc002kmf.2	-	1	574	c.507C>T	c.(505-507)AGC>AGT	p.S169S	DLGAP1_uc010wyz.1_Silent_p.S169S|DLGAP1_uc002kmk.2_Silent_p.S169S|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	169					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				CCTCGTCAGGGCTGGCCTTGC	0.711													A	3879562	G	A	3879562	2	1	235	1	0	0	0	0	0	0	0	1	4559	1194	42	2		2	DLGAP1	18	3879562	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3668390	3879562	74197686	1305	118898											
EPB41L3	23136	broad.mit.edu	37	chr18	5443847	5443847	+	Frame_Shift_Del	DEL	T	T	-													aagaacttacttcgaacctgTttttttatttccttagcagg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:5443846_5443846GT>G	uc002kmt.1	-	4	606	c.520_520AC>C	c.(520-522)cagfs	p.Q174fs	EPB41L3_uc010wzh.1_Frame_Shift_Del_p.Q174fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.Q174fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.Q65fs|EPB41L3_uc010dks.1_Frame_Shift_Del_p.Q196fs|EPB41L3_uc002kmv.1_Frame_Shift_Del_p.Q65fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	174	FERM.				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						CTTCGAACCTGTTTTTTTATT	0.348													-	5443847	T	-	5443847	7	5	235	1	0	1	0	1	0	0	0	0	5154	1722	60	0	2816	0	EPB41L3	18	5443847	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	1564285	5443847	72633401	1306	118899											
LAMA1	284217	broad.mit.edu	37	chr18	6955369	6955369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttctttctgacagccgaCtgattaaaaggcaagatgaa	8	8	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:6955369C>T	uc002knm.2	-	57	8284	c.8190G>A	c.(8188-8190)CAG>CAA	p.Q2730Q	LAMA1_uc002knk.2_Silent_p.Q60Q|LAMA1_uc002knl.2_Silent_p.Q183Q|LAMA1_uc010wzj.1_Silent_p.Q2206Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2730	Laminin G-like 4.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGACAGCCGACTGATTAAAAG	0.478													T	6955369	C	T	6955369	2	4	235	1	0	0	0	0	0	0	0	1	8605	564	20	4		4	LAMA1	18	6955369	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1511522	6955369	71121879	1307	118900											
LAMA1	284217	broad.mit.edu	37	chr18	7036056	7036056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaatatcgtaggacaccGtgtatttcaggaatccgcca	10	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:7036056G>A	uc002knm.2	-	13	1863	c.1769C>T	c.(1768-1770)ACG>ATG	p.T590M	LAMA1_uc010wzj.1_Missense_Mutation_p.T66M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	590	Laminin IV type A 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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTAGGACACCGTGTATTTCAG	0.438													A	7036056	G	A	7036056	3	1	235	1	0	0	0	0	1	0	0	0	8605	1145	40	1	7662	1	LAMA1	18	7036056	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	80687	7036056	71041192	1308	118901											
TXNDC2	84203	broad.mit.edu	37	chr18	9887814	9887814	+	Frame_Shift_Del	DEL	G	G	-													gaaacaatggagttcccggaGggggacaaggtgaaagtgat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:9887814delG	uc002koi.3	+	2	1787	c.1338delG	c.(1336-1338)GAGfs	p.E446fs	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Frame_Shift_Del_p.E379fs	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	446	Thioredoxin.				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			ovary(1)|pancreas(1)	2						AGTTCCCGGAGGGGGACAAGG	0.572													-	9887814	G	-	9887814	7	5	235	1	0	1	0	1	0	0	0	0	16794	991	35	0	1344	0	TXNDC2	18	9887814	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	2851758	9887814	68189434	1309	118902											
AFG3L2	10939	broad.mit.edu	37	chr18	12356744	12356744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaactcagatccactaacGgtgatgaaggggacattggc	11	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:12356744G>A	uc002kqz.1	-	9	1226	c.1113C>T	c.(1111-1113)ACC>ACT	p.T371T		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	371					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	ATCCACTAACGGTGATGAAGG	0.527													A	12356744	G	A	12356744	2	1	235	1	0	0	0	0	0	0	0	1	360	1103	39	1		1	AFG3L2	18	12356744	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2468930	12356744	65720504	1310	118903											
C18orf8	29919	broad.mit.edu	37	chr18	21087004	21087004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatattggctgttcagaggAcctcaaagactgtggtaaga	12	6	2	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:21087004A>G	uc010xax.1	+	3	371	c.250A>G	c.(250-252)ACC>GCC	p.T84A	C18orf8_uc010xau.1_Intron|C18orf8_uc010xav.1_Missense_Mutation_p.T84A|C18orf8_uc010xaw.1_Intron|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	84										ovary(1)	1	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)					TGTTCAGAGGACCTCAAAGAC	0.333													G	21087004	A	G	21087004	3	3	235	1	0	0	0	0	1	0	0	0	1907	275	10	3	260	3	C18orf8	18	21087004	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	8730260	21087004	56990244	1311	118904											
KCTD1	284252	broad.mit.edu	37	chr18	24039686	24039686	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagttacacatcacgtcgccGatctctggaaatacttcttc	7	12	3	0	rs146911358		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:24039686G>A	uc002kvw.2	-	4	1073	c.513C>T	c.(511-513)ATC>ATT	p.I171I	KCTD1_uc010xbj.1_Silent_p.I779I|KCTD1_uc010xbk.1_Silent_p.I171I|KCTD1_uc002kvy.2_Silent_p.I89I	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	171					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			ovary(1)	1	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)			TCACGTCGCCGATCTCTGGAA	0.532													A	24039686	G	A	24039686	2	1	235	1	0	0	0	0	0	0	0	1	8096	1048	37	1		1	KCTD1	18	24039686	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2952682	24039686	54037562	1312	118905											
B4GALT6	9331	broad.mit.edu	37	chr18	29264323	29264325	+	In_Frame_Del	DEL	AGA	AGA	-													cagacaggacgaagagagggAgaagaagaagatgaaggcga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:29264323_29264325delAGA	uc002kwz.3	-	1	362_364	c.65_67delTCT	c.(64-69)TTCTCC>TCC	p.F22del	B4GALT6_uc010dma.2_In_Frame_Del_p.F22del|B4GALT6_uc010dmb.2_In_Frame_Del_p.F22del	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	22	Helical; Signal-anchor for type II membrane protein; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GAAGAGAGGGAGAAGAAGAAGAT	0.586													-	29264325	AGA	-	29264323	7	5	235	1	0	1	0	1	0	0	0	0	1275	304	11	0	1117	0	B4GALT6	18	29264323	In_Frame_Del	DEL	AGA	TCGA-F1-6177-01A-11D-1800-08	5224637	29264323	48812925	1313	118906											
FAM59A	64762	broad.mit.edu	37	chr18	29972946	29972946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggtggtccactggcgGcaggaatgaatcagcagata	15	7	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:29972946G>A	uc002kxl.2	-	2	230	c.174C>T	c.(172-174)TGC>TGT	p.C58C	FAM59A_uc002kxk.1_Silent_p.C58C	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	58	CABIT.									ovary(1)|skin(1)	2						TCCACTGGCGGCAGGAATGAA	0.458													A	29972946	G	A	29972946	2	1	235	1	0	0	0	0	0	0	0	1	5592	1195	42	2		2	FAM59A	18	29972946	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	708623	29972946	48104302	1314	118907											
KLHL14	57565	broad.mit.edu	37	chr18	30349887	30349887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcgagtccagcaggGcgcgcatctcctcgaagttg	15	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:30349887G>A	uc002kxm.1	-	2	1056	c.668C>T	c.(667-669)GCC>GTC	p.A223V		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	223	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GTCCAGCAGGGCGCGCATCTC	0.647													A	30349887	G	A	30349887	3	1	235	1	0	0	0	0	1	0	0	0	8370	1203	42	2	1250	2	KLHL14	18	30349887	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	376941	30349887	47727361	1315	118908											
RPRD1A	55197	broad.mit.edu	37	chr18	33573116	33573116	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagaggctggtccatcAatcttcactgtagatgtctc	10	9	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:33573116A>G	uc002kzf.1	-	7	943	c.937T>C	c.(937-939)TGA>CGA	p.*313R	RPRD1A_uc002kze.1_Nonstop_Mutation_p.*277R|RPRD1A_uc002kzg.2_Nonstop_Mutation_p.*313R|RPRD1A_uc010dmw.2_Nonstop_Mutation_p.*277R	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing	313										ovary(1)|breast(1)	2						CTGGTCCATCAATCTTCACTG	0.498													G	33573116	A	G	33573116	4	3	235	1	0	0	0	0	0	0	0	0	13615	143	5	3	5	3	RPRD1A	18	33573116	Nonstop_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	3223229	33573116	44504132	1316	118909											
MOCOS	55034	broad.mit.edu	37	chr18	33780188	33780188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctggtccataatcgtgCggctcctctactgaggaaga	11	11	2	2	rs150272391	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:33780188C>T	uc002kzq.3	+	4	865	c.842C>T	c.(841-843)GCG>GTG	p.A281V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	281					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CATAATCGTGCGGCTCCTCTA	0.562													T	33780188	C	T	33780188	3	4	235	1	0	0	0	0	1	0	0	0	9689	768	27	1	856	1	MOCOS	18	33780188	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	207072	33780188	44297060	1317	118910											
SETBP1	26040	broad.mit.edu	37	chr18	42281746	42281746	+	Frame_Shift_Del	DEL	A	A	-													cagaaggtgtcccgtgctggAaaaaatagcaaagccacgaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:42281746delA	uc010dni.2	+	2	731	c.435delA	c.(433-435)GGAfs	p.G145fs	SETBP1_uc002lay.2_Frame_Shift_Del_p.G145fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	145						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCGTGCTGGAAAAAATAGCA	0.448									Schinzel-Giedion_syndrome				-	42281746	A	-	42281746	7	5	235	1	0	1	0	1	0	0	0	0	14129	233	9	0	437	0	SETBP1	18	42281746	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	8501558	42281746	35795502	1318	118911											
PSTPIP2	9050	broad.mit.edu	37	chr18	43595906	43595906	+	Splice_Site	DEL	A	A	-													agggcccgcttcagggtgctAaaaaaaacaagcacatatat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383													-	43595906	A	-	43595906	8	5	235	1	0	1	0	1	0	0	1	0	12722	377	13	0		0	PSTPIP2	18	43595906	Splice_Site	DEL	A	TCGA-F1-6177-01A-11D-1800-08	1314160	43595906	34481342	1319	118912											
TCEB3B	51224	broad.mit.edu	37	chr18	44560119	44560119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttagcattcactctgCgtccagggaaagcagcttcc	9	13	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:44560119C>T	uc002lcr.1	-	1	1870	c.1517G>A	c.(1516-1518)CGC>CAC	p.R506H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	506	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						ATTCACTCTGCGTCCAGGGAA	0.587													T	44560119	C	T	44560119	3	4	235	1	0	0	0	0	1	0	0	0	15679	768	27	1	748	1	TCEB3B	18	44560119	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	964213	44560119	33517129	1320	118913											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-													gtcctccttgtcatcctcctCccccccgtcccccccaggct							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:45567076delC	uc002lda.2	-	1	419	c.403delG	c.(403-405)GAGfs	p.E135fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcatcctcctcccccccgtcc	0.279													-	45567076	C	-	45567076	7	5	235	1	0	1	0	1	0	0	0	0	17552	864	30	0	1464	0	ZBTB7C	18	45567076	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1006957	45567076	32510172	1321	118914											
KIAA0427	9811	broad.mit.edu	37	chr18	46284514	46284514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaggcgcacaccgcaAtgccaaagagaccatgacca	12	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:46284514A>G	uc002ldc.2	+	8	1094	c.809A>G	c.(808-810)AAT>AGT	p.N270S	KIAA0427_uc002ldd.2_Missense_Mutation_p.N270S|KIAA0427_uc002lde.3_5'Flank	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	270	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GCACACCGCAATGCCAAAGAG	0.647													G	46284514	A	G	46284514	3	3	235	1	0	0	0	0	1	0	0	0	8176	101	4	3	835	3	KIAA0427	18	46284514	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	717438	46284514	31792734	1322	118915											
DCC	1630	broad.mit.edu	37	chr18	50278528	50278528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgactgctccgcggagtccGaccgaggagttccagtgatc	13	13	0	1	rs144331156	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:50278528G>A	uc002lfe.1	+	2	783	c.196G>A	c.(196-198)GAC>AAC	p.D66N	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	66	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGCGGAGTCCGACCGAGGAGT	0.507													A	50278528	G	A	50278528	3	1	235	1	0	0	0	0	1	0	0	0	4282	1058	37	1	202	1	DCC	18	50278528	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3994014	50278528	27798720	1323	118916											
C18orf54	162681	broad.mit.edu	37	chr18	51904599	51904599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgatacgaatggagaaCggtcaccgaaaatgtgaaga	12	5	1	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:51904599C>T	uc002lfn.3	+	8	1218	c.1102C>T	c.(1102-1104)CGG>TGG	p.R368W	C18orf54_uc002lfo.3_Missense_Mutation_p.R529W	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	368						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GAATGGAGAACGGTCACCGAA	0.353													T	51904599	C	T	51904599	3	4	235	1	0	0	0	0	1	0	0	0	1904	527	19	1	1128	1	C18orf54	18	51904599	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1626071	51904599	26172649	1324	118917											
TCF4	6925	broad.mit.edu	37	chr18	52899754	52899754	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttacctagatcttgacctAgtaattgatttgatatcctt	6	7	1	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:52899754A>C	uc002lfz.2	-	17	2247	c.1635T>G	c.(1633-1635)ACT>ACG	p.T545T	TCF4_uc002lfw.3_Silent_p.T385T|TCF4_uc010xdu.1_Silent_p.T415T|TCF4_uc010xdv.1_Silent_p.T415T|TCF4_uc002lfx.2_Silent_p.T474T|TCF4_uc010xdw.1_Silent_p.T415T|TCF4_uc002lfy.2_Silent_p.T503T|TCF4_uc010xdx.1_Silent_p.T521T|TCF4_uc010dph.1_Silent_p.T545T|TCF4_uc010xdy.1_Silent_p.T521T|TCF4_uc002lga.2_Silent_p.T647T|TCF4_uc002lgb.1_Silent_p.T385T|TCF4_uc010dpi.2_Silent_p.T551T|TCF4_uc002lfv.2_Silent_p.T328T	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	545					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			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ATCTTGACCTAGTAATTGATT	0.373													C	52899754	A	C	52899754	2	2	235	1	0	0	0	0	0	0	0	1	15692	407	15	5		5	TCF4	18	52899754	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	995155	52899754	25177494	1325	118918											
WDR7	23335	broad.mit.edu	37	chr18	54349956	54349956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaaggaaggcttttatGccacggacattaccctgaaa	11	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:54349956G>A	uc002lgk.1	+	5	603	c.392G>A	c.(391-393)TGC>TAC	p.C131Y	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.C131Y	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	131										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGCTTTTATGCCACGGACAT	0.403													A	54349956	G	A	54349956	3	1	235	1	0	0	0	0	1	0	0	0	17317	1319	46	2	406	2	WDR7	18	54349956	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1450202	54349956	23727292	1326	118919											
WDR7	23335	broad.mit.edu	37	chr18	54591291	54591291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggatgtgtccgctgttcTgatggggcttctcgaacttt	12	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:54591291T>C	uc002lgk.1	+	22	3876	c.3665T>C	c.(3664-3666)CTG>CCG	p.L1222P	WDR7_uc002lgl.1_Missense_Mutation_p.L1189P	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1222										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCGCTGTTCTGATGGGGCTT	0.468													C	54591291	T	C	54591291	3	2	235	1	0	0	0	0	1	0	0	0	17317	1580	55	3	3747	3	WDR7	18	54591291	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	241335	54591291	23485957	1327	118920											
ATP8B1	5205	broad.mit.edu	37	chr18	55329760	55329760	+	Frame_Shift_Del	DEL	A	A	-													gcacggtttccaccgggtggAaaaaaagattcctgcacagg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:55329760delA	uc002lgw.2	-	20	2373	c.2373delT	c.(2371-2373)TTTfs	p.F791fs	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	791	Cytoplasmic (Potential).				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(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CACCGGGTGGAAAAAAAGATT	0.443									Byler_disease				-	55329760	A	-	55329760	7	5	235	1	0	1	0	1	0	0	0	0	1194	243	9	0	1414	0	ATP8B1	18	55329760	Frame_Shift_Del	DEL	A	TCGA-F1-6177-01A-11D-1800-08	738469	55329760	22747488	1328	118921											
ZNF532	55205	broad.mit.edu	37	chr18	56648737	56648737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgtacctttaccaaacGtttgatgctggagaagcacg	10	10	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:56648737G>A	uc002lho.2	+	10	3846	c.3299G>A	c.(3298-3300)CGT>CAT	p.R1100H	ZNF532_uc002lhp.2_Missense_Mutation_p.R1098H|ZNF532_uc010xeg.1_Missense_Mutation_p.R1098H|ZNF532_uc002lhr.2_Missense_Mutation_p.R1098H|ZNF532_uc002lhs.2_Missense_Mutation_p.R1098H|ZNF532_uc010xeh.1_Missense_Mutation_p.R188H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1100	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TTTACCAAACGTTTGATGCTG	0.483													A	56648737	G	A	56648737	3	1	235	1	0	0	0	0	1	0	0	0	17969	1145	40	1	3325	1	ZNF532	18	56648737	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1318977	56648737	21428511	1329	118922											
CDH7	1005	broad.mit.edu	37	chr18	63547737	63547737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattgtgagatacgatgaCgagggcgggggagaggagga	19	3	0	3	rs116347805	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:63547737C>T	uc002ljz.2	+	12	2290	c.1965C>T	c.(1963-1965)GAC>GAT	p.D655D	CDH7_uc002lkb.2_Silent_p.D655D	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	655	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GATACGATGACGAGGGCGGGG	0.493													T	63547737	C	T	63547737	2	4	235	1	0	0	0	0	0	0	0	1	3115	535	19	1		1	CDH7	18	63547737	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6899000	63547737	14529511	1330	118923											
CBLN2	147381	broad.mit.edu	37	chr18	70209141	70209141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgctgccggagcgcacGgagatgcctagggaggaggt	19	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:70209141G>A	uc002lku.2	-	2	490	c.255C>T	c.(253-255)TCC>TCT	p.S85S	CBLN2_uc002lkv.2_Silent_p.S85S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	85						integral to membrane					0		Esophageal squamous(42;0.131)				CGGAGCGCACGGAGATGCCTA	0.667													A	70209141	G	A	70209141	2	1	235	1	0	0	0	0	0	0	0	1	2705	1103	39	1		1	CBLN2	18	70209141	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6661404	70209141	7868107	1331	118924											
NETO1	81832	broad.mit.edu	37	chr18	70451000	70451000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaccccaagacccgtgcGtagcatgacatcattagcca	8	14	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:70451000G>A	uc002lkw.2	-	7	1065	c.781C>T	c.(781-783)CGC>TGC	p.R261C	NETO1_uc002lkx.1_Missense_Mutation_p.R260C|NETO1_uc002lky.1_Missense_Mutation_p.R261C	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	261	CUB 2.|Extracellular (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGACCCGTGCGTAGCATGACA	0.483													A	70451000	G	A	70451000	3	1	235	1	0	0	0	0	1	0	0	0	10339	1145	40	1	836	1	NETO1	18	70451000	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	241859	70451000	7626248	1332	118925											
CNDP1	84735	broad.mit.edu	37	chr18	72223581	72223581	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacccttccaggctgcgtcCctgctggctgtgctgctgct	11	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:72223581C>A	uc002llq.2	+	2	244	c.33C>A	c.(31-33)TCC>TCA	p.S11S		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	11					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGGCTGCGTCCCTGCTGGCTG	0.562													A	72223581	C	A	72223581	2	1	235	1	0	0	0	0	0	0	0	1	3593	610	22	5		5	CNDP1	18	72223581	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1772581	72223581	5853667	1333	118926											
ZNF516	9658	broad.mit.edu	37	chr18	74091962	74091962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttctgcagggtgacccGtctggccctccgctcccgta	11	16	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:74091962G>A	uc010dqx.1	-	3	2343	c.2108C>T	c.(2107-2109)ACG>ATG	p.T703M	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGGTGACCCGTCTGGCCCTC	0.582													A	74091962	G	A	74091962	3	1	235	1	0	0	0	0	1	0	0	0	17957	1145	40	1	1400	1	ZNF516	18	74091962	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1868381	74091962	3985286	1334	118927											
SALL3	27164	broad.mit.edu	37	chr18	76755298	76755299	+	Frame_Shift_Ins	INS	-	-	C													gggcctggcgcccatgctggINScccccccaccgcgccggacg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:76755298_76755299insC	uc002lmt.2	+	2	3307_3308	c.3307_3308insC	c.(3307-3309)GCCfs	p.A1103fs	SALL3_uc010dra.2_Frame_Shift_Ins_p.A638fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		GCCCATGCTGGCCCCCCCACCG	0.743													C	76755299	-	C	76755298	7	5	235	1	0	1	1	0	0	0	0	0	13812	1203	42	0	3313	0	SALL3	18	76755298	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	2663336	76755298	1321950	1335	118928											
ATP9B	374868	broad.mit.edu	37	chr18	77137342	77137342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcctcaagtacctgaggCgcaagctctctcctcccagc	8	16	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:77137342C>T	uc002lmx.2	+	30	3417	c.3403C>T	c.(3403-3405)CGC>TGC	p.R1135C	ATP9B_uc002lmw.1_Missense_Mutation_p.R1124C|ATP9B_uc002lna.2_Missense_Mutation_p.R150C|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1135	Cytoplasmic (Potential).				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			ovary(3)	3		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)		GTACCTGAGGCGCAAGCTCTC	0.607													T	77137342	C	T	77137342	3	4	235	1	0	0	0	0	1	0	0	0	1199	768	27	1	3521	1	ATP9B	18	77137342	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	382044	77137342	939906	1336	118929											
CTDP1	9150	broad.mit.edu	37	chr18	77489024	77489024	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtatgtctgagacaatgccGctgtacactctttgtaagga	10	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:77489024G>T	uc002lnh.1	+	11	2682	c.2535G>T	c.(2533-2535)CCG>CCT	p.P845P	CTDP1_uc002lni.1_Intron|CTDP1_uc010drd.1_Silent_p.P845P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	845					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGACAATGCCGCTGTACACTC	0.592													T	77489024	G	T	77489024	2	4	235	1	0	0	0	0	0	0	0	1	4002	1074	38	5		5	CTDP1	18	77489024	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	351682	77489024	588224	1337	118930											
PARD6G	84552	broad.mit.edu	37	chr18	77918087	77918087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggcgatcatcatgtccGtgacctggtccagcgtcttc	11	12	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr18:77918087G>A	uc002lny.2	-	3	864	c.698C>T	c.(697-699)ACG>ATG	p.T233M	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	233	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		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)		CATCATGTCCGTGACCTGGTC	0.672													A	77918087	G	A	77918087	3	1	235	1	0	0	0	0	1	0	0	0	11447	1145	40	1	436	1	PARD6G	18	77918087	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	429063	77918087	159161	1338	118931											
HCN2	610	broad.mit.edu	37	chr19	605125	605125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaatctcatcagcatgaTgctgctgctctgccactggg	10	13	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:605125T>C	uc002lpe.2	+	3	1174	c.1121T>C	c.(1120-1122)ATG>ACG	p.M374T		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	374	Helical; Name=Segment S5; (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		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)		ATCAGCATGATGCTGCTGCTC	0.607													C	605125	T	C	605125	3	2	235	1	0	0	0	0	1	0	0	0	6997	1464	51	3	1131	3	HCN2	19	605125	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08		605125	58523858	1339	118932											
POLRMT	5442	broad.mit.edu	37	chr19	621231	621231	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgaactccagcagggCccgcgccacgtcgctgccca	13	18	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:621231C>G	uc002lpf.1	-	10	2523	c.2467G>C	c.(2467-2469)GCC>CCC	p.A823P		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	823	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		TCCAGCAGGGCCCGCGCCACG	0.701													G	621231	C	G	621231	3	3	235	1	0	0	0	0	1	0	0	0	12238	739	26	5	1273	5	POLRMT	19	621231	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	16106	621231	58507752	1340	118933											
WDR18	57418	broad.mit.edu	37	chr19	984397	984397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgtacggactcggcggCcccgatgtggagctgcatcg	16	12	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:984397C>T	uc002lqm.1	+	1	70	c.44C>T	c.(43-45)GCC>GTC	p.A15V	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.A15V|WDR18_uc010dry.1_Missense_Mutation_p.A15V	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	15										skin(1)	1		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)		GACTCGGCGGCCCCGATGTGG	0.701													T	984397	C	T	984397	3	4	235	1	0	0	0	0	1	0	0	0	17275	739	26	2	46	2	WDR18	19	984397	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	363166	984397	58144586	1341	118934											
C19orf26	255057	broad.mit.edu	37	chr19	1231206	1231206	+	Frame_Shift_Del	DEL	C	C	-													gaagtcctcctggggggcatCcccctcctcctgctccgtgc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1231206delC	uc002lrm.2	-	9	1305	c.1030delG	c.(1030-1032)GATfs	p.D344fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	370						integral to membrane					0		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)			-	1231206	C	-	1231206	7	5	235	1	0	1	0	1	0	0	0	0	1916	855	30	0	317	0	C19orf26	19	1231206	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	246809	1231206	57897777	1342	118935											
NDUFS7	374291	broad.mit.edu	37	chr19	1387831	1387831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcctgcgcggcttccGgatccttggtctgcggtgag	15	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1387831G>A	uc002lse.3	+	2	81	c.38G>A	c.(37-39)CGG>CAG	p.R13Q	NDUFS7_uc002lsf.2_Missense_Mutation_p.R77Q|NDUFS7_uc002lsh.2_Missense_Mutation_p.R77Q|NDUFS7_uc002lsg.2_5'UTR	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	13					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CGCGGCTTCCGGATCCTTGGT	0.716													A	1387831	G	A	1387831	3	1	235	1	0	0	0	0	1	0	0	0	10297	1116	39	1	44	1	NDUFS7	19	1387831	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	156625	1387831	57741152	1343	118936											
PCSK4	54760	broad.mit.edu	37	chr19	1487292	1487292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgacatcggtgatggTaccgtccagcatccgtacgc	11	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1487292T>C	uc002ltb.1	-	7	765	c.703A>G	c.(703-705)ACC>GCC	p.T235A	PCSK4_uc002lta.2_Missense_Mutation_p.T47A	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	235	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		TCGGTGATGGTACCGTCCAGC	0.532													C	1487292	T	C	1487292	3	2	235	1	0	0	0	0	1	0	0	0	11602	1638	57	3	1600	3	PCSK4	19	1487292	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	99461	1487292	57641691	1344	118937											
ATP8B3	148229	broad.mit.edu	37	chr19	1795906	1795906	+	Frame_Shift_Del	DEL	C	C	-													ctctgtggcaaattccattgCccccctcctgtgcaagcgtt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:1795906delC	uc002ltw.2	-	18	2257	c.2023delG	c.(2023-2025)GCAfs	p.A675fs	ATP8B3_uc002ltv.2_Frame_Shift_Del_p.A628fs|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	675	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		AATTCCATTGCCCCCCTCCTG	0.483											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	1795906	C	-	1795906	7	5	235	1	0	1	0	1	0	0	0	0	1196	739	26	0	1957	0	ATP8B3	19	1795906	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	308614	1795906	57333077	1345	118938											
DOT1L	84444	broad.mit.edu	37	chr19	2216574	2216574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacacgccccagtacctgGcctcacccctggaccaggag	10	17	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2216574G>A	uc002lvb.3	+	20	2254	c.2218G>A	c.(2218-2220)GCC>ACC	p.A740T	DOT1L_uc002lvc.1_Missense_Mutation_p.A34T|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.A34T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	740						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	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)		CCAGTACCTGGCCTCACCCCT	0.667													A	2216574	G	A	2216574	3	1	235	1	0	0	0	0	1	0	0	0	4709	1203	42	2	2296	2	DOT1L	19	2216574	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	420668	2216574	56912409	1346	118939											
DOT1L	84444	broad.mit.edu	37	chr19	2226423	2226423	+	Frame_Shift_Del	DEL	G	G	-													ggctttcccggctccctgtcGggggctgacggactcagccc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2226423delG	uc002lvb.3	+	27	3939	c.3903delG	c.(3901-3903)TCGfs	p.S1301fs	DOT1L_uc002lvc.1_Frame_Shift_Del_p.S595fs	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1301						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	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)		GCTCCCTGTCGGGGGCTGACG	0.682													-	2226423	G	-	2226423	7	5	235	1	0	1	0	1	0	0	0	0	4709	1103	39	0	4009	0	DOT1L	19	2226423	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	9849	2226423	56902560	1347	118940											
LINGO3	645191	broad.mit.edu	37	chr19	2290788	2290788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcctccaacgtggagaGcaggttgttggagaggttga	15	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2290788G>A	uc010dsx.1	-	2	1116	c.988C>T	c.(988-990)CTC>TTC	p.L330F	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	330	Extracellular (Potential).|LRR 11.					integral to membrane					0						AACGTGGAGAGCAGGTTGTTG	0.677													A	2290788	G	A	2290788	3	1	235	1	0	0	0	0	1	0	0	0	8816	971	34	2	794	2	LINGO3	19	2290788	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	64365	2290788	56838195	1348	118941											
SPPL2B	56928	broad.mit.edu	37	chr19	2352963	2352963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcctacctccatctcCgtgggccccagcaccagccg	9	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:2352963C>T	uc002lvs.2	+	16	1615	c.1535C>T	c.(1534-1536)CCG>CTG	p.P512L	SPPL2B_uc002lvr.2_3'UTR	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	512	Pro-rich.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		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)		CCTCCATCTCCGTGGGCCCCA	0.682													T	2352963	C	T	2352963	3	4	235	1	0	0	0	0	1	0	0	0	15088	652	23	1	1613	1	SPPL2B	19	2352963	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	62175	2352963	56776020	1349	118942											
TBXA2R	6915	broad.mit.edu	37	chr19	3600160	3600160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcgccagcgcggccGcccacaccagccccacggtg	13	21	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3600160G>A	uc002lyg.1	-	2	687	c.473C>T	c.(472-474)GCG>GTG	p.A158V	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	158	Helical; Name=4; (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CAGCGCGGCCGCCCACACCAG	0.751													A	3600160	G	A	3600160	3	1	235	1	0	0	0	0	1	0	0	0	15660	1087	38	1	811	1	TBXA2R	19	3600160	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1247197	3600160	55528823	1350	118943											
C19orf29	58509	broad.mit.edu	37	chr19	3614486	3614486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagcgcggattttgccctCgatgccctggaagatgacct	11	13	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3614486C>T	uc002lyh.2	-	7	1317	c.1264G>A	c.(1264-1266)GAG>AAG	p.E422K	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.E270K|C19orf29_uc002lyi.3_Missense_Mutation_p.E422K|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	422						catalytic step 2 spliceosome	protein binding				0		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)		ATTTTGCCCTCGATGCCCTGG	0.632													T	3614486	C	T	3614486	3	4	235	1	0	0	0	0	1	0	0	0	1918	893	31	1	1028	1	C19orf29	19	3614486	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	14326	3614486	55514497	1351	118944											
APBA3	9546	broad.mit.edu	37	chr19	3759909	3759909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaggcgggcattcctcGcagtgcaagaggcccagcag	16	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3759909G>A	uc002lyp.1	-	2	531	c.354C>T	c.(352-354)TGC>TGT	p.C118C	MRPL54_uc002lyq.3_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	118					intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		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)		GGCATTCCTCGCAGTGCAAGA	0.647													A	3759909	G	A	3759909	2	1	235	1	0	0	0	0	0	0	0	1	758	1079	38	1		1	APBA3	19	3759909	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	145423	3759909	55369074	1352	118945											
MATK	4145	broad.mit.edu	37	chr19	3779034	3779034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccacttgacgggcagccGgcttgagtctagccccttcc	11	16	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:3779034G>A	uc002lyt.2	-	12	1553	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	MATK_uc002lyv.2_Missense_Mutation_p.R386W|MATK_uc002lyu.2_Missense_Mutation_p.R344W|MATK_uc010dtq.2_Missense_Mutation_p.R385W	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	385	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		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)		ACGGGCAGCCGGCTTGAGTCT	0.607													A	3779034	G	A	3779034	3	1	235	1	0	0	0	0	1	0	0	0	9332	1115	39	1	382	1	MATK	19	3779034	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	19125	3779034	55349949	1353	118946											
STAP2	55620	broad.mit.edu	37	chr19	4329976	4329976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagggtgtctccagtgcaCggcgcgcctcctctttggcc	13	15	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:4329976C>T	uc002mab.2	-	5	534	c.437G>A	c.(436-438)CGT>CAT	p.R146H	STAP2_uc002mac.2_Missense_Mutation_p.R146H|STAP2_uc002mad.2_Missense_Mutation_p.R39H	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	146	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		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)		CTCCAGTGCACGGCGCGCCTC	0.647													T	4329976	C	T	4329976	3	4	235	1	0	0	0	0	1	0	0	0	15252	536	19	1	948	1	STAP2	19	4329976	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	550942	4329976	54799007	1354	118947											
CHAF1A	10036	broad.mit.edu	37	chr19	4409287	4409287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggttgttgaaggccaTtcagaacgacaagttggcat	14	7	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:4409287T>C	uc002mal.2	+	3	591	c.491T>C	c.(490-492)ATT>ACT	p.I164T		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	164	Binds to CBX1 chromo shadow domain.				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			ovary(1)|skin(1)	2		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)		TTGAAGGCCATTCAGAACGAC	0.527								Chromatin_Structure					C	4409287	T	C	4409287	3	2	235	1	0	0	0	0	1	0	0	0	3311	1493	52	3	501	3	CHAF1A	19	4409287	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	79311	4409287	54719696	1355	118948											
SEMA6B	10501	broad.mit.edu	37	chr19	4552637	4552637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcacactcgggccacGcgggacaccaccacctgggc	11	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:4552637G>A	uc010duc.1	-	9	824	c.786C>T	c.(784-786)CGC>CGT	p.R262R	SEMA6B_uc010dud.2_Silent_p.R262R|SEMA6B_uc010xih.1_Silent_p.R262R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	262	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		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)		CTCGGGCCACGCGGGACACCA	0.657													A	4552637	G	A	4552637	2	1	235	1	0	0	0	0	0	0	0	1	14040	1074	38	1		1	SEMA6B	19	4552637	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	143350	4552637	54576346	1356	118949											
PTPRS	5802	broad.mit.edu	37	chr19	5208389	5208389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaactgccggacagtcCgggactggccatcctagagt	13	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:5208389C>T	uc002mbv.2	-	36	5735	c.5501G>A	c.(5500-5502)CGG>CAG	p.R1834Q	PTPRS_uc002mbu.1_Missense_Mutation_p.R1403Q|PTPRS_uc010xin.1_Missense_Mutation_p.R1376Q|PTPRS_uc002mbw.2_Missense_Mutation_p.R1796Q|PTPRS_uc002mbx.2_Missense_Mutation_p.R1391Q|PTPRS_uc002mby.2_Missense_Mutation_p.R1387Q	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1834	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCGGACAGTCCGGGACTGGCC	0.552													T	5208389	C	T	5208389	3	4	235	1	0	0	0	0	1	0	0	0	12811	652	23	1	357	1	PTPRS	19	5208389	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	655752	5208389	53920594	1357	118950											
LONP1	9361	broad.mit.edu	37	chr19	5713220	5713220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctgggcaaacgtccccGtgtggtagatttcatccagg	13	10	2	1	rs147052599		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:5713220G>A	uc002mcx.2	-	3	596	c.563C>T	c.(562-564)ACG>ATG	p.T188M	LONP1_uc002mcy.2_Missense_Mutation_p.T124M|LONP1_uc010duh.2_Translation_Start_Site|LONP1_uc010dui.2_Missense_Mutation_p.T188M|LONP1_uc002mcz.2_Translation_Start_Site	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	188	Lon.				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				0						AAACGTCCCCGTGTGGTAGAT	0.562													A	5713220	G	A	5713220	3	1	235	1	0	0	0	0	1	0	0	0	8892	1145	40	1	2380	1	LONP1	19	5713220	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	504831	5713220	53415763	1358	118951											
SLC25A41	284427	broad.mit.edu	37	chr19	6429808	6429808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagacgctcctggaagggcGgggacccttgtattccacag	15	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:6429808G>T	uc010dus.2	-	4	637	c.551C>A	c.(550-552)CCG>CAG	p.P184Q	SLC25A41_uc010dut.2_Missense_Mutation_p.P46Q	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	184	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CTGGAAGGGCGGGGACCCTTG	0.597													T	6429808	G	T	6429808	3	4	235	1	0	0	0	0	1	0	0	0	14506	1116	39	5	577	5	SLC25A41	19	6429808	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	716588	6429808	52699175	1359	118952											
TUBB4	10382	broad.mit.edu	37	chr19	6495747	6495747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagggaaccatgttgaCggccagcttgcgcaggtcgg	16	9	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:6495747C>T	uc002mfg.1	-	4	870	c.763G>A	c.(763-765)GTC>ATC	p.V255I	TUBB4_uc002mff.1_Missense_Mutation_p.V183I|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	255					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		ACCATGTTGACGGCCAGCTTG	0.682													T	6495747	C	T	6495747	3	4	235	1	0	0	0	0	1	0	0	0	16755	536	19	1	575	1	TUBB4	19	6495747	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	65939	6495747	52633236	1360	118953											
INSR	3643	broad.mit.edu	37	chr19	7184342	7184342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttgctggaattcatcGtgtacccggagggacactca	10	12	3	0	rs138528064	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:7184342G>A	uc002mgd.1	-	3	1068	c.959C>T	c.(958-960)ACG>ATG	p.T320M	INSR_uc002mge.1_Missense_Mutation_p.T320M|INSR_uc002mgf.2_Missense_Mutation_p.T320M	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	320	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAATTCATCGTGTACCCGGA	0.557													A	7184342	G	A	7184342	3	1	235	1	0	0	0	0	1	0	0	0	7773	1145	40	1	3269	1	INSR	19	7184342	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	688595	7184342	51944641	1361	118954											
PNPLA6	10908	broad.mit.edu	37	chr19	7620635	7620635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcacgaagcagcgggccCgggagtgggccaaggtgtgt	19	11	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:7620635C>T	uc010xjq.1	+	26	3304	c.3109C>T	c.(3109-3111)CGG>TGG	p.R1037W	PNPLA6_uc002mgq.1_Missense_Mutation_p.R989W|PNPLA6_uc010xjp.1_Missense_Mutation_p.R962W|PNPLA6_uc002mgr.1_Missense_Mutation_p.R989W|PNPLA6_uc002mgs.2_Missense_Mutation_p.R1027W|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1028	Patatin.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GCAGCGGGCCCGGGAGTGGGC	0.657													T	7620635	C	T	7620635	3	4	235	1	0	0	0	0	1	0	0	0	12169	643	23	1	3207	1	PNPLA6	19	7620635	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	436293	7620635	51508348	1362	118955											
XAB2	56949	broad.mit.edu	37	chr19	7687526	7687526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaagtactcggcccggcGggcaggcagcgccgtggcct	15	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:7687526G>A	uc002mgx.2	-	11	1419	c.1393C>T	c.(1393-1395)CGC>TGC	p.R465C		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	465					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						TCGGCCCGGCGGGCAGGCAGC	0.682								Direct_reversal_of_damage|NER					A	7687526	G	A	7687526	3	1	235	1	0	0	0	0	1	0	0	0	17415	1116	39	1	1210	1	XAB2	19	7687526	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	66891	7687526	51441457	1363	118956											
HNRNPM	4670	broad.mit.edu	37	chr19	8533700	8533700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatttcttccctcctgagCgtccacaacaacttccccgt	6	16	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:8533700C>T	uc010dwe.2	+	9	957	c.877C>T	c.(877-879)CGT>TGT	p.R293C	HNRNPM_uc010dwc.1_Missense_Mutation_p.R293C|HNRNPM_uc010xke.1_Missense_Mutation_p.R254C|HNRNPM_uc010dwd.2_Missense_Mutation_p.R254C|HNRNPM_uc002mka.2_Missense_Mutation_p.R173C	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	293					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				0						CCCTCCTGAGCGTCCACAACA	0.348													T	8533700	C	T	8533700	3	4	235	1	0	0	0	0	1	0	0	0	7271	768	27	1	911	1	HNRNPM	19	8533700	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	846174	8533700	50595283	1364	118957											
MYO1F	4542	broad.mit.edu	37	chr19	8609213	8609213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggatgacgaagccggCgctccagctgttgaaatgct	15	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:8609213C>T	uc002mkg.2	-	14	1606	c.1492G>A	c.(1492-1494)GCC>ACC	p.A498T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	498	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ACGAAGCCGGCGCTCCAGCTG	0.687													T	8609213	C	T	8609213	3	4	235	1	0	0	0	0	1	0	0	0	10073	768	27	1	1864	1	MYO1F	19	8609213	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	75513	8609213	50519770	1365	118958											
MUC16	94025	broad.mit.edu	37	chr19	8982158	8982158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgatagctgctcaccGttaaggtagaggctgtcttt	14	8	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:8982158G>A	uc002mkp.2	-	70	42321	c.42117C>T	c.(42115-42117)AAC>AAT	p.N14039N	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.N856N|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	14064	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTGCTCACCGTTAAGGTAGA	0.572													A	8982158	G	A	8982158	2	1	235	1	0	0	0	0	0	0	0	1	9973	1159	40	1		1	MUC16	19	8982158	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	372945	8982158	50146825	1366	118959											
MUC16	94025	broad.mit.edu	37	chr19	9057156	9057156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatgcttgaagaaggaTgaattttctctgtatctgtg	10	7	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9057156T>C	uc002mkp.2	-	3	30494	c.30290A>G	c.(30289-30291)CAT>CGT	p.H10097R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10099	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAAGAAGGATGAATTTTCTC	0.463													C	9057156	T	C	9057156	3	2	235	1	0	0	0	0	1	0	0	0	9973	1464	51	3	13561	3	MUC16	19	9057156	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	74998	9057156	50071827	1367	118960											
MUC16	94025	broad.mit.edu	37	chr19	9067923	9067923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagggaagaggaagagctgGttttttccacagagggtggg	18	4	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9067923G>T	uc002mkp.2	-	3	19727	c.19523C>A	c.(19522-19524)ACC>AAC	p.T6508N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6510	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAAGAGCTGGTTTTTTCCAC	0.458													T	9067923	G	T	9067923	3	4	235	1	0	0	0	0	1	0	0	0	9973	1261	44	5	24328	5	MUC16	19	9067923	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	10767	9067923	50061060	1368	118961											
ZNF317	57693	broad.mit.edu	37	chr19	9270837	9270837	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgaatacgctcacttgttCgaagtctttggcatggaccc	9	11	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9270837C>T	uc002mku.2	+	7	791	c.516C>T	c.(514-516)TTC>TTT	p.F172F	ZNF317_uc002mkv.2_Silent_p.F31F|ZNF317_uc002mkw.2_Silent_p.F140F|ZNF317_uc002mkx.2_Silent_p.F87F|ZNF317_uc002mky.2_Silent_p.F55F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCACTTGTTCGAAGTCTTTG	0.517													T	9270837	C	T	9270837	2	4	235	1	0	0	0	0	0	0	0	1	17832	883	31	1		1	ZNF317	19	9270837	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	202914	9270837	49858146	1369	118962											
OLFM2	93145	broad.mit.edu	37	chr19	9964945	9964945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttccaggtatagagggCgcgctcccgggggttgtaat	16	8	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:9964945C>T	uc002mmp.2	-	6	1310	c.1282G>A	c.(1282-1284)GCC>ACC	p.A428T	OLFM2_uc002mmo.2_Missense_Mutation_p.A350T	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	428	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						GTATAGAGGGCGCGCTCCCGG	0.567													T	9964945	C	T	9964945	3	4	235	1	0	0	0	0	1	0	0	0	10853	768	27	1	86	1	OLFM2	19	9964945	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	694108	9964945	49164038	1370	118963											
DNM2	1785	broad.mit.edu	37	chr19	10908058	10908058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctccgcatgacccaggaCggggctcttcacccccgaca	10	19	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:10908058C>T	uc002mps.1	+	10	1363	c.1199C>T	c.(1198-1200)ACG>ATG	p.T400M	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Missense_Mutation_p.T400M|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Missense_Mutation_p.T133M	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	400					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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGACCCAGGACGGGGCTCTTC	0.527													T	10908058	C	T	10908058	3	4	235	1	0	0	0	0	1	0	0	0	4672	536	19	1	1380	1	DNM2	19	10908058	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	943113	10908058	48220925	1371	118964											
CARM1	10498	broad.mit.edu	37	chr19	11022862	11022862	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccactcctccctcagatCgttcttgatgttggctgtgg	9	14	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:11022862C>T	uc002mpz.2	+	5	687	c.561C>T	c.(559-561)ATC>ATT	p.I187I	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	187					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				0						TCCCTCAGATCGTTCTTGATG	0.577													T	11022862	C	T	11022862	2	4	235	1	0	0	0	0	0	0	0	1	2655	874	31	1		1	CARM1	19	11022862	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	114804	11022862	48106121	1372	118965											
ZNF44	51710	broad.mit.edu	37	chr19	12386785	12386785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctatacagttcaggTtcctaatggtttctcgcatc	6	12	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:12386785T>G	uc010xmj.1	-	3	465	c.260A>C	c.(259-261)AAC>ACC	p.N87T	ZNF44_uc002mtl.2_RNA|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.N39T	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	87	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)		ACAGTTCAGGTTCCTAATGGT	0.418													G	12386785	T	G	12386785	3	3	235	1	0	0	0	0	1	0	0	0	17909	1725	60	5	1743	5	ZNF44	19	12386785	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1363923	12386785	46742198	1373	118966											
ZNF799	90576	broad.mit.edu	37	chr19	12501627	12501627	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttacattcatacggcttctCtccagagtgaattctttcat	5	11	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:12501627C>T	uc010dyt.2	-	4	1735	c.1585G>A	c.(1585-1587)GAG>AAG	p.E529K	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TACGGCTTCTCTCCAGAGTGA	0.398													T	12501627	C	T	12501627	3	4	235	1	0	0	0	0	1	0	0	0	18163	922	32	4	350	4	ZNF799	19	12501627	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	114842	12501627	46627356	1374	118967											
RTBDN	83546	broad.mit.edu	37	chr19	12939701	12939701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcagggctcggcactccaCagcgttctggatggtttcca	11	13	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:12939701C>T	uc002mvi.2	-	3	366	c.236G>A	c.(235-237)TGT>TAT	p.C79Y	RTBDN_uc002mvh.1_Missense_Mutation_p.C111Y|RTBDN_uc002mvj.2_Missense_Mutation_p.C111Y	NM_001080997	NP_001074466	Q9BSG5	RTBDN_HUMAN	retbindin isoform 1	79						extracellular region					0						CGGCACTCCACAGCGTTCTGG	0.592													T	12939701	C	T	12939701	3	4	235	1	0	0	0	0	1	0	0	0	13717	478	17	4	469	4	RTBDN	19	12939701	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	438074	12939701	46189282	1375	118968											
NANOS3	342977	broad.mit.edu	37	chr19	13988417	13988417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccagtgcggcgccacaCgtgagcgcgcccacacccga	12	19	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:13988417C>T	uc002mxj.3	+	1	468	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	100	C2HC 2.|Nanos-type.				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CGGCGCCACACGTGAGCGCGC	0.657													T	13988417	C	T	13988417	3	4	235	1	0	0	0	0	1	0	0	0	10153	536	19	1	357	1	NANOS3	19	13988417	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1048716	13988417	45140566	1376	118969											
IL27RA	9466	broad.mit.edu	37	chr19	14163010	14163010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccgcccaggccaccGccccgcttgactctgggtat	10	20	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:14163010G>A	uc002mxx.2	+	14	2242	c.1819G>A	c.(1819-1821)GCC>ACC	p.A607T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	607	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						CCAGGCCACCGCCCCGCTTGA	0.667													A	14163010	G	A	14163010	3	1	235	1	0	0	0	0	1	0	0	0	7681	1087	38	1	1873	1	IL27RA	19	14163010	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	174593	14163010	44965973	1377	118970											
AKAP8L	26993	broad.mit.edu	37	chr19	15512127	15512127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaagagggagggcagcCgagaggcaccagacatgcac	18	9	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:15512127C>T	uc002naw.1	-	5	749	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.R156Q|AKAP8L_uc002nay.1_Missense_Mutation_p.R217Q|AKAP8L_uc002naz.2_Missense_Mutation_p.R65Q	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	217						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						GGAGGGCAGCCGAGAGGCACC	0.692													T	15512127	C	T	15512127	3	4	235	1	0	0	0	0	1	0	0	0	458	652	23	1	1330	1	AKAP8L	19	15512127	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1349117	15512127	43616856	1378	118971											
TPM4	7171	broad.mit.edu	37	chr19	16199871	16199873	+	In_Frame_Del	DEL	GAA	GAA	-													gcagaaaatgtggtgacctgGaagaagaactcaagaatgtt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:16199871_16199873delGAA	uc002ndj.2	+	5	713_715	c.472_474delGAA	c.(472-474)GAAdel	p.E160del	TPM4_uc002ndi.2_In_Frame_Del_p.E196del|TPM4_uc002ndk.1_In_Frame_Del_p.E70del	NM_003290	NP_003281	P67936	TPM4_HUMAN	tropomyosin 4 isoform 2	160	By similarity.				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13						TGGTGACCTGGAAGAAGAACTCA	0.433			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	16199873	GAA	-	16199871	7	5	235	1	0	1	0	1	0	0	0	0	16405	1175	41	0	738	0	TPM4	19	16199871	In_Frame_Del	DEL	GAA	TCGA-F1-6177-01A-11D-1800-08	687744	16199871	42929112	1379	118972											
NWD1	284434	broad.mit.edu	37	chr19	16910892	16910892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccgcaccggcctcaccGcagtgtcccacaatggaagc	11	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:16910892G>A	uc002neu.3	+	17	4077	c.3655G>A	c.(3655-3657)GCA>ACA	p.A1219T	NWD1_uc002net.3_Missense_Mutation_p.A1084T|NWD1_uc002nev.3_Missense_Mutation_p.A1013T			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1219	WD 10.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CGGCCTCACCGCAGTGTCCCA	0.512													A	16910892	G	A	16910892	3	1	235	1	0	0	0	0	1	0	0	0	10781	1087	38	1	3300	1	NWD1	19	16910892	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	711021	16910892	42218091	1380	118973											
SIN3B	23309	broad.mit.edu	37	chr19	16989157	16989157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgttcatcgtgaactccGaggactacatgtaccgtcgc	11	11	1	1	rs138372644	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:16989157G>A	uc002ney.1	+	19	3228	c.3214G>A	c.(3214-3216)GAG>AAG	p.E1072K	SIN3B_uc002nez.1_Missense_Mutation_p.E1040K|SIN3B_uc010xpi.1_Missense_Mutation_p.E630K|SIN3B_uc010eaj.1_Missense_Mutation_p.E8K	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1072					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CGTGAACTCCGAGGACTACAT	0.662													A	16989157	G	A	16989157	3	1	235	1	0	0	0	0	1	0	0	0	14326	1059	37	1	3288	1	SIN3B	19	16989157	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	78265	16989157	42139826	1381	118974											
HAUS8	93323	broad.mit.edu	37	chr19	17186232	17186232	+	Frame_Shift_Del	DEL	T	T	-													tcgccccgaggaatccgccaTtttcccgccttccacctcaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17186232delT	uc002nfe.2	-	1	112	c.1delA	c.(1-3)ATGfs	p.M1fs	HAUS8_uc002nff.2_Frame_Shift_Del_p.M1fs|HAUS8_uc002nfg.1_Translation_Start_Site|HAUS8_uc002nfh.1_Frame_Shift_Del_p.M1fs|MYO9B_uc002nfi.2_5'Flank|MYO9B_uc010eak.2_5'Flank	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	1					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						GAATCCGCCATTTTCCCGCCT	0.657													-	17186232	T	-	17186232	7	5	235	1	0	1	0	1	0	0	0	0	6972	1493	52	0	1275	0	HAUS8	19	17186232	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	197075	17186232	41942751	1382	118975											
OCEL1	79629	broad.mit.edu	37	chr19	17338803	17338803	+	Frame_Shift_Del	DEL	C	C	-													tgctgagctccctgcccccaCcccaaagccaggtcagcact							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17338803delC	uc002nfp.2	+	4	609	c.607delC	c.(607-609)CCCfs	p.P203fs		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	203										central_nervous_system(1)	1						CCTGCCCCCACCCCAAAGCCA	0.647													-	17338803	C	-	17338803	7	5	235	1	0	1	0	1	0	0	0	0	10816	507	18	0	621	0	OCEL1	19	17338803	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	152571	17338803	41790180	1383	118976											
SLC27A1	376497	broad.mit.edu	37	chr19	17608192	17608192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctgggaggagttcacGgagcgcttcggcgtacgcca	15	12	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17608192G>A	uc002ngu.1	+	7	1175	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T	SLC27A1_uc002ngt.1_Silent_p.T107T|SLC27A1_uc010xpp.1_Silent_p.T196T|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	375	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						AGGAGTTCACGGAGCGCTTCG	0.682													A	17608192	G	A	17608192	2	1	235	1	0	0	0	0	0	0	0	1	14525	1103	39	1		1	SLC27A1	19	17608192	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	269389	17608192	41520791	1384	118977											
GLT25D1	79709	broad.mit.edu	37	chr19	17679462	17679462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccttctacccacctcacCctgactacacctggtccttt	5	18	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17679462C>A	uc002nhc.1	+	5	781	c.769C>A	c.(769-771)CCT>ACT	p.P257T	GLT25D1_uc010eax.1_Missense_Mutation_p.P25T	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	257					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						CCCACCTCACCCTGACTACAC	0.607													A	17679462	C	A	17679462	3	1	235	1	0	0	0	0	1	0	0	0	6466	623	22	5	787	5	GLT25D1	19	17679462	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	71270	17679462	41449521	1385	118978											
UNC13A	23025	broad.mit.edu	37	chr19	17768952	17768952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccaggggtggtgggCgaacagaatattggtggact	19	6	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:17768952C>T	uc002nhd.2	-	10	950	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	229					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GGGTGGTGGGCGAACAGAATA	0.572													T	17768952	C	T	17768952	3	4	235	1	0	0	0	0	1	0	0	0	16981	768	27	1	4561	1	UNC13A	19	17768952	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	89490	17768952	41360031	1386	118979											
GDF15	9518	broad.mit.edu	37	chr19	18499542	18499542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagtgaccatgtgcatcGgcgcgtgcccgagccagttc	13	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:18499542G>A	uc002niv.2	+	2	756	c.724G>A	c.(724-726)GGC>AGC	p.G242S		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	242					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						CATGTGCATCGGCGCGTGCCC	0.687											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18499542	G	A	18499542	3	1	235	1	0	0	0	0	1	0	0	0	6313	1116	39	1	730	1	GDF15	19	18499542	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	730590	18499542	40629441	1387	118980											
SFRS14	10147	broad.mit.edu	37	chr19	19115218	19115218	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccccatcctcatcgtcctcGtcctcctcctcaggcatcac	4	22	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19115218G>C	uc002nkx.2	-	7	2834	c.2688C>G	c.(2686-2688)GAC>GAG	p.D896E	SFRS14_uc002nkz.1_Missense_Mutation_p.D910E|SFRS14_uc002nla.1_Missense_Mutation_p.D896E|SFRS14_uc002nlb.2_Missense_Mutation_p.D896E|SFRS14_uc010xqk.1_Missense_Mutation_p.D665E	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	896	Asp/Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			catcgtcctcgtcctcctcct	0.567													C	19115218	G	C	19115218	3	2	235	1	0	0	0	0	1	0	0	0	14170	1136	40	5	576	5	SFRS14	19	19115218	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	615676	19115218	40013765	1388	118981											
SLC25A42	284439	broad.mit.edu	37	chr19	19206971	19206971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcccggtgcgattgcAtgaggatgctgaggctgtcc	17	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19206971A>G	uc002nlf.1	+	2	189	c.38A>G	c.(37-39)CAT>CGT	p.H13R	SLC25A42_uc010xqn.1_Missense_Mutation_p.H65R	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	13					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GTGCGATTGCATGAGGATGCT	0.622													G	19206971	A	G	19206971	3	3	235	1	0	0	0	0	1	0	0	0	14507	217	8	3	40	3	SLC25A42	19	19206971	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	91753	19206971	39922012	1389	118982											
TMEM161A	54929	broad.mit.edu	37	chr19	19231610	19231610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtgcagttgagggtgaGgatgagcggcgtcaggtact	18	5	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19231610G>T	uc002nlg.2	-	11	1180	c.1150C>A	c.(1150-1152)CTC>ATC	p.L384I	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.L359I|TMEM161A_uc002nli.2_Missense_Mutation_p.L281I|TMEM161A_uc002nlj.2_Missense_Mutation_p.L259I	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	384	Helical; (Potential).				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)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TTGAGGGTGAGGATGAGCGGC	0.607													T	19231610	G	T	19231610	3	4	235	1	0	0	0	0	1	0	0	0	16073	1000	35	5	297	5	TMEM161A	19	19231610	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	24639	19231610	39897373	1390	118983											
MEF2B	100271849	broad.mit.edu	37	chr19	19260102	19260102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtacttcagcagcacaCggtccatgtccgtgctggca	11	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19260102C>T	uc002nlm.2	-	3	305	c.191G>A	c.(190-192)CGT>CAT	p.R64H	MEF2B_uc002nln.2_Missense_Mutation_p.R111H|MEF2B_uc002nll.2_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc010xqo.1_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc010xqp.1_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc002nlo.2_Missense_Mutation_p.R64H|LOC729991-MEF2B_uc002nlp.2_Missense_Mutation_p.R64H|MEF2B_uc002nlk.2_Missense_Mutation_p.R64H	NM_001145785	NP_001139257			myocyte enhancer factor 2B isoform a											skin(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CAGCAGCACACGGTCCATGTC	0.592													T	19260102	C	T	19260102	3	4	235	1	0	0	0	0	1	0	0	0	9456	536	19	1	943	1	MEF2B	19	19260102	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	28492	19260102	39868881	1391	118984											
NR2C2AP	126382	broad.mit.edu	37	chr19	19313841	19313841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactcttacctgctcactGtctctggacaaaccaaagag	7	13	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19313841G>A	uc002nlx.2	-	1	398	c.29C>T	c.(28-30)ACA>ATA	p.T10I	NR2C2AP_uc010xqq.1_5'Flank|NR2C2AP_uc002nly.2_Missense_Mutation_p.T10I	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	TR4 orphan receptor associated protein TRA16	10					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				ovary(1)	1			Epithelial(12;0.00235)			CCTGCTCACTGTCTCTGGACA	0.463													A	19313841	G	A	19313841	3	1	235	1	0	0	0	0	1	0	0	0	10624	1377	48	4	410	4	NR2C2AP	19	19313841	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	53739	19313841	39815142	1392	118985											
NCAN	1463	broad.mit.edu	37	chr19	19329894	19329894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataaagtggaccaaggtgCggactgcgtcgggccagcga	17	9	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19329894C>T	uc002nlz.2	+	3	343	c.244C>T	c.(244-246)CGG>TGG	p.R82W		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	82	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GACCAAGGTGCGGACTGCGTC	0.652													T	19329894	C	T	19329894	3	4	235	1	0	0	0	0	1	0	0	0	10204	759	27	1	250	1	NCAN	19	19329894	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	16053	19329894	39799089	1393	118986											
CILP2	148113	broad.mit.edu	37	chr19	19655681	19655681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttctccgccaacccccGtgcctggggccgctttgaca	11	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:19655681G>A	uc002nmv.3	+	8	2412	c.2327G>A	c.(2326-2328)CGT>CAT	p.R776H	CILP2_uc002nmw.3_Missense_Mutation_p.R782H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	776						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCAACCCCCGTGCCTGGGGC	0.711													A	19655681	G	A	19655681	3	1	235	1	0	0	0	0	1	0	0	0	3430	1145	40	1	2357	1	CILP2	19	19655681	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	325787	19655681	39473302	1394	118987											
ZNF85	7639	broad.mit.edu	37	chr19	21132705	21132705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaaaaatgtggcaaagCttttaaccagtcctcaaatc	7	8	1	1	rs140408195		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:21132705C>T	uc002npg.3	+	4	1512	c.1385C>T	c.(1384-1386)GCT>GTT	p.A462V	ZNF85_uc010ecn.2_Missense_Mutation_p.A397V|ZNF85_uc010eco.2_Missense_Mutation_p.A410V|ZNF85_uc002npi.2_Missense_Mutation_p.A403V	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	462	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TGTGGCAAAGCTTTTAACCAG	0.338													T	21132705	C	T	21132705	3	4	235	1	0	0	0	0	1	0	0	0	18190	797	28	2	1399	2	ZNF85	19	21132705	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1477024	21132705	37996278	1395	118988											
ZNF43	7594	broad.mit.edu	37	chr19	21991748	21991748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagaatttctctgcagtaTggattctcttatgtgtagta	8	5	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:21991748T>C	uc002nqj.2	-	4	1221	c.1091A>G	c.(1090-1092)CAT>CGT	p.H364R	ZNF43_uc010ecv.2_Missense_Mutation_p.H358R|ZNF43_uc002nql.2_Missense_Mutation_p.H358R|ZNF43_uc002nqm.2_Missense_Mutation_p.H358R|ZNF43_uc002nqk.2_Missense_Mutation_p.H294R	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	364	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTCTGCAGTATGGATTCTCTT	0.363													C	21991748	T	C	21991748	3	2	235	1	0	0	0	0	1	0	0	0	17900	1464	51	3	1342	3	ZNF43	19	21991748	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	859043	21991748	37137235	1396	118989											
TSHZ3	57616	broad.mit.edu	37	chr19	31767688	31767688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacagtttggataagtccCgtagccggaagcctaagtgt	13	8	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:31767688C>T	uc002nsy.3	-	2	3076	c.3011G>A	c.(3010-3012)CGG>CAG	p.R1004Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	1004					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GGATAAGTCCCGTAGCCGGAA	0.507													T	31767688	C	T	31767688	3	4	235	1	0	0	0	0	1	0	0	0	16622	652	23	1	238	1	TSHZ3	19	31767688	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	9775940	31767688	27361295	1397	118990											
PEPD	5184	broad.mit.edu	37	chr19	33984235	33984235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctgtgacgtcaggacGctggcaatctagaaggtcgg	15	9	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:33984235G>A	uc002nur.3	-	5	537	c.402C>T	c.(400-402)AGC>AGT	p.S134S	PEPD_uc010xrr.1_Silent_p.S134S|PEPD_uc010xrs.1_Silent_p.S70S	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	134					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					ACGTCAGGACGCTGGCAATCT	0.522													A	33984235	G	A	33984235	2	1	235	1	0	0	0	0	0	0	0	1	11728	1078	38	1		1	PEPD	19	33984235	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2216547	33984235	25144748	1398	118991											
KIAA0355	9710	broad.mit.edu	37	chr19	34833300	34833300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaataacacctggcccaacCgtgaccaaagtgatggagtc	10	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:34833300C>T	uc002nvd.3	+	10	3320	c.2461C>T	c.(2461-2463)CGT>TGT	p.R821C		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	821										ovary(1)	1	Esophageal squamous(110;0.162)					CTGGCCCAACCGTGACCAAAG	0.522													T	34833300	C	T	34833300	3	4	235	1	0	0	0	0	1	0	0	0	8170	652	23	1	2495	1	KIAA0355	19	34833300	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	849065	34833300	24295683	1399	118992											
UBA2	10054	broad.mit.edu	37	chr19	34942896	34942896	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttctttaggagaagaaacGaatgcatcagatcaacagaa	8	6	3	4	rs146405147	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:34942896G>A	uc002nvk.2	+	10	952	c.882G>A	c.(880-882)ACG>ACA	p.T294T	UBA2_uc010xrx.1_Silent_p.T167T|UBA2_uc002nvl.2_Silent_p.T198T	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	294					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGAAGAAACGAATGCATCAG	0.368													A	34942896	G	A	34942896	2	1	235	1	0	0	0	0	0	0	0	1	16825	1045	37	1		1	UBA2	19	34942896	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	109596	34942896	24186087	1400	118993											
FFAR2	2867	broad.mit.edu	37	chr19	35940790	35940790	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgctggccgacctcctcctGctgctgctgctgcccttcaa	9	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:35940790G>C	uc002nzg.2	+	2	254	c.174G>C	c.(172-174)CTG>CTC	p.L58L	FFAR2_uc010eea.2_Silent_p.L58L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	58	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	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)			ACCTCCTCCTGCTGCTGCTGC	0.647													C	35940790	G	C	35940790	2	2	235	1	0	0	0	0	0	0	0	1	5828	1306	46	5		5	FFAR2	19	35940790	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	997894	35940790	23188193	1401	118994											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	235	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	269974	36210764	22918219	1402	118995											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271872	36271872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctccgcaccttcatgCgctcccgcccttctcggcag	9	20	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:36271872C>T	uc002obr.1	+	11	965	c.880C>T	c.(880-882)CGC>TGC	p.R294C	ARHGAP33_uc002obs.1_Missense_Mutation_p.R294C|ARHGAP33_uc002obt.1_Missense_Mutation_p.R158C|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	294					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CACCTTCATGCGCTCCCGCCC	0.667													T	36271872	C	T	36271872	3	4	235	1	0	0	0	0	1	0	0	0	882	768	27	1	922	1	ARHGAP33	19	36271872	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	61108	36271872	22857111	1403	118996											
NPHS1	4868	broad.mit.edu	37	chr19	36340038	36340038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccccacgctgtggacacCggctggccattctggagaca	13	14	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:36340038C>T	uc002oby.2	-	8	852	c.852G>A	c.(850-852)CCG>CCA	p.P284P		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	284	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)			CTGTGGACACCGGCTGGCCAT	0.677													T	36340038	C	T	36340038	2	4	235	1	0	0	0	0	0	0	0	1	10582	639	23	1		1	NPHS1	19	36340038	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	68166	36340038	22788945	1404	118997											
ZFP30	22835	broad.mit.edu	37	chr19	38126847	38126847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtcgactgaggtgggCacactgtctaaaggcttttc	12	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:38126847C>T	uc002ogv.1	-	6	1111	c.595G>A	c.(595-597)GCC>ACC	p.A199T	ZFP30_uc002ogw.1_Missense_Mutation_p.A199T|ZFP30_uc002ogx.1_Missense_Mutation_p.A199T|ZFP30_uc010xtt.1_Missense_Mutation_p.A198T	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	199	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGAGGTGGGCACACTGTCTA	0.393													T	38126847	C	T	38126847	3	4	235	1	0	0	0	0	1	0	0	0	17641	710	25	2	968	2	ZFP30	19	38126847	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1786809	38126847	21002136	1405	118998											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610116	38610116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggccaccaggacccGccaggagtatctcaaggacc	10	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:38610116G>A	uc002ohk.2	+	9	2971	c.2462G>A	c.(2461-2463)CGC>CAC	p.R821H		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	821	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCAGGACCCGCCAGGAGTAT	0.552													A	38610116	G	A	38610116	3	1	235	1	0	0	0	0	1	0	0	0	14331	1087	38	1	2488	1	SIPA1L3	19	38610116	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	483269	38610116	20518867	1406	118999											
GGN	199720	broad.mit.edu	37	chr19	38877383	38877383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaggtaatggtggtggCggcttccaagtctccagggg	16	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:38877383C>T	uc002oij.1	-	3	654	c.519G>A	c.(517-519)CCG>CCA	p.P173P	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P90P	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	173	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGGTGGTGGCGGCTTCCAAG	0.687													T	38877383	C	T	38877383	2	4	235	1	0	0	0	0	0	0	0	1	6358	755	27	1		1	GGN	19	38877383	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	267267	38877383	20251600	1407	119000											
MAP4K1	11184	broad.mit.edu	37	chr19	39104547	39104547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcccaatgaaagagaggCgtctggccagtgtagcccca	13	11	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39104547C>T	uc002oix.1	-	8	614	c.506G>A	c.(505-507)CGC>CAC	p.R169H	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169H|MAP4K1_uc010xug.1_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAAAGAGAGGCGTCTGGCCAG	0.622													T	39104547	C	T	39104547	3	4	235	1	0	0	0	0	1	0	0	0	9259	768	27	1	2157	1	MAP4K1	19	39104547	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	227164	39104547	20024436	1408	119001											
NFKBIB	4793	broad.mit.edu	37	chr19	39398124	39398124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcctgagggcaggcgCgaaccctgctgcccgcatgt	13	15	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39398124C>T	uc002ojw.2	+	5	852	c.794C>T	c.(793-795)GCG>GTG	p.A265V	NFKBIB_uc002ojx.2_Missense_Mutation_p.A233V|NFKBIB_uc002ojy.2_Missense_Mutation_p.A265V	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	265	ANK 5.				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			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGGGCAGGCGCGAACCCTGCT	0.706													T	39398124	C	T	39398124	3	4	235	1	0	0	0	0	1	0	0	0	10378	768	27	1	812	1	NFKBIB	19	39398124	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	293577	39398124	19730859	1409	119002											
PAK4	10298	broad.mit.edu	37	chr19	39664319	39664319	+	Frame_Shift_Del	DEL	C	C	-													tcccacccgagcccgaggtgCccccagccctggagtgctgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39664319delC	uc002okj.1	+	6	1228	c.767delC	c.(766-768)GCCfs	p.A256fs	PAK4_uc002okl.1_Frame_Shift_Del_p.A256fs|PAK4_uc002okn.1_Frame_Shift_Del_p.A256fs|PAK4_uc002okm.1_Frame_Shift_Del_p.A103fs|PAK4_uc002oko.1_Frame_Shift_Del_p.A103fs|PAK4_uc002okp.1_Frame_Shift_Del_p.A166fs	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	256	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCCCGAGGTGCCCCCAGCCCT	0.756													-	39664319	C	-	39664319	7	5	235	1	0	1	0	1	0	0	0	0	11403	739	26	0	777	0	PAK4	19	39664319	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	266195	39664319	19464664	1410	119003											
PAK4	10298	broad.mit.edu	37	chr19	39667343	39667343	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctcatctcccgccttccCtacgggccagaggtgagccc	11	17	2	2	rs138564503		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:39667343C>A	uc002okj.1	+	9	1934	c.1473C>A	c.(1471-1473)CCC>CCA	p.P491P	PAK4_uc002okl.1_Silent_p.P491P|PAK4_uc002okn.1_Silent_p.P491P|PAK4_uc002okm.1_Silent_p.P338P|PAK4_uc002oko.1_Silent_p.P338P|PAK4_uc002okp.1_Silent_p.P401P	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	491	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCGCCTTCCCTACGGGCCAG	0.667													A	39667343	C	A	39667343	2	1	235	1	0	0	0	0	0	0	0	1	11403	668	24	5		5	PAK4	19	39667343	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3024	39667343	19461640	1411	119004											
FBL	2091	broad.mit.edu	37	chr19	40328360	40328360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacccctcaccgatgagcaTgcggtatttgtgtgggtgtc	13	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:40328360T>C	uc002omn.2	-	6	787	c.673A>G	c.(673-675)ATG>GTG	p.M225V	FBL_uc002omm.1_Missense_Mutation_p.M139V|FBL_uc002omo.2_Missense_Mutation_p.M224V	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	225					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCGATGAGCATGCGGTATTTG	0.582													C	40328360	T	C	40328360	3	2	235	1	0	0	0	0	1	0	0	0	5696	1464	51	3	308	3	FBL	19	40328360	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	661017	40328360	18800623	1412	119005											
PLD3	23646	broad.mit.edu	37	chr19	40882619	40882619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactcggagccatccatgCgggccttcctgctctctctg	10	16	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:40882619C>T	uc002onm.3	+	11	1521	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W	PLD3_uc002onj.3_Missense_Mutation_p.R375W|PLD3_uc002onk.3_Missense_Mutation_p.R375W|PLD3_uc002onl.3_Missense_Mutation_p.R375W|PLD3_uc002onn.2_Missense_Mutation_p.R375W	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	375	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCATCCATGCGGGCCTTCCT	0.647													T	40882619	C	T	40882619	3	4	235	1	0	0	0	0	1	0	0	0	12047	759	27	1	1157	1	PLD3	19	40882619	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	554259	40882619	18246364	1413	119006											
SERTAD3	29946	broad.mit.edu	37	chr19	40947898	40947898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcggagcagggcttgCtggtagctctgaaggcctgc	17	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:40947898C>A	uc002onu.3	-	2	368	c.90G>T	c.(88-90)CAG>CAT	p.Q30H	SERTAD3_uc002onv.3_Missense_Mutation_p.Q30H	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	RPA-binding trans-activator	30	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGGGCTTGCTGGTAGCTCT	0.597													A	40947898	C	A	40947898	3	1	235	1	0	0	0	0	1	0	0	0	14122	796	28	5	504	5	SERTAD3	19	40947898	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	65279	40947898	18181085	1414	119007											
SPTBN4	57731	broad.mit.edu	37	chr19	41008724	41008724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcatgagcgggaggctGccctacgggctgagctgatt	16	10	0	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41008724G>A	uc002ony.2	+	11	1332	c.1246G>A	c.(1246-1248)GCC>ACC	p.A416T	SPTBN4_uc002onx.2_Missense_Mutation_p.A416T|SPTBN4_uc002onz.2_Missense_Mutation_p.A416T	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	416	Spectrin 2.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGGAGGCTGCCCTACGGGC	0.577													A	41008724	G	A	41008724	3	1	235	1	0	0	0	0	1	0	0	0	15120	1319	46	2	1284	2	SPTBN4	19	41008724	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	60826	41008724	18120259	1415	119008											
SPTBN4	57731	broad.mit.edu	37	chr19	41066082	41066082	+	Frame_Shift_Del	DEL	G	G	-													caggtacggcagctgcaggaGggggcggcccagctgcggac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41066081_41066081AG>A	uc002ony.3	+	26	5773	c.5687_5687AG>A	c.(5686-5688)gagfs	p.E1896fs	SPTBN4_uc002onx.3_Frame_Shift_Del_p.E1896fs|SPTBN4_uc002onz.3_Frame_Shift_Del_p.E1896fs|SPTBN4_uc010egx.3_Frame_Shift_Del_p.E639fs|SPTBN4_uc002ooa.3_Frame_Shift_Del_p.E572fs	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1896					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|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)			CAGCTGCAGGAGGGGGCGGCC	0.687													-	41066082	G	-	41066082	7	5	235	1	0	1	0	1	0	0	0	0	15120	991	35	0	5790	0	SPTBN4	19	41066082	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	57358	41066082	18062901	1416	119009											
CYP2B6	1555	broad.mit.edu	37	chr19	41510273	41510273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccactatgagggacttcGggatgggaaagcggagtgtg	17	6	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41510273G>A	uc002opr.1	+	3	413	c.406G>A	c.(406-408)GGG>AGG	p.G136R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.G96R	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	136					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			ovary(1)|skin(1)	2			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)	GAGGGACTTCGGGATGGGAAA	0.562													A	41510273	G	A	41510273	3	1	235	1	0	0	0	0	1	0	0	0	4164	1116	39	1	416	1	CYP2B6	19	41510273	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	444191	41510273	17618710	1417	119010											
CYP2B6	1555	broad.mit.edu	37	chr19	41522636	41522636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaacttctccatggcCagccccgtggccccagaaga	9	17	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:41522636C>T	uc002opr.1	+	9	1387	c.1380C>T	c.(1378-1380)GCC>GCT	p.A460A	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.A260A	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	460					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			ovary(1)|skin(1)	2			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)	TCTCCATGGCCAGCCCCGTGG	0.577													T	41522636	C	T	41522636	2	4	235	1	0	0	0	0	0	0	0	1	4164	581	21	4		4	CYP2B6	19	41522636	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	12363	41522636	17606347	1418	119011											
CEACAM3	1084	broad.mit.edu	37	chr19	42301880	42301880	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacagttccatgtatacCgtgagtatttccacatgacc	8	11	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:42301880C>T	uc002orn.1	+	2	500	c.424C>T	c.(424-426)CAA>TAA	p.Q142*	CEACAM3_uc010eia.1_Nonsense_Mutation_p.Q142*|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	142	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						CCATGTATACCGTGAGTATTT	0.478													T	42301880	C	T	42301880	4	4	235	1	0	0	0	0	0	1	0	0	3193	666	23	1	430	1	CEACAM3	19	42301880	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	779244	42301880	16827103	1419	119012											
CIC	23152	broad.mit.edu	37	chr19	42794441	42794441	+	Frame_Shift_Del	DEL	C	C	-													tcctcctttacccactgccgCcccccactggaccctgagcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:42794441delC	uc002otf.1	+	10	1561	c.1521delC	c.(1519-1521)CGCfs	p.R507fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCACTGCCGCCCCCCACTGG	0.622			T	DUX4	soft tissue sarcoma								-	42794441	C	-	42794441	7	5	235	1	0	1	0	1	0	0	0	0	3424	726	26	0	1559	0	CIC	19	42794441	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	492561	42794441	16334542	1420	119013											
PRR19	284338	broad.mit.edu	37	chr19	42813800	42813800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaacctggtcgtgtccgtCgtcggaagactaggcgggaa	15	9	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:42813800C>T	uc002oti.2	+	2	442	c.64C>T	c.(64-66)CGT>TGT	p.R22C	PRR19_uc002oth.1_Missense_Mutation_p.R22C|PRR19_uc002otj.2_Missense_Mutation_p.R22C	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	22											0		Prostate(69;0.00682)				TCGTGTCCGTCGTCGGAAGAC	0.592													T	42813800	C	T	42813800	3	4	235	1	0	0	0	0	1	0	0	0	12591	884	31	1	66	1	PRR19	19	42813800	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	19359	42813800	16315183	1421	119014											
PSG7	5676	broad.mit.edu	37	chr19	43430100	43430100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccggtgggttagagtcCgcaaagcaggacaagtagag	16	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:43430100C>T	uc002ovl.3	-	6	1170	c.1068G>A	c.(1066-1068)GCG>GCA	p.A356A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Silent_p.A269A|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Silent_p.A82A|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.A269A|PSG7_uc010xwl.1_Silent_p.A234A	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	356	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GGTTAGAGTCCGCAAAGCAGG	0.448													T	43430100	C	T	43430100	2	4	235	1	0	0	0	0	0	0	0	1	12660	639	23	1		1	PSG7	19	43430100	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	616300	43430100	15698883	1422	119015											
PSG7	5676	broad.mit.edu	37	chr19	43441204	43441204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttatatgctgtgtgcAgggaggggctgagaggggcc	19	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:43441204A>G	uc002ovl.3	-	1	127	c.25T>C	c.(25-27)TGC>CGC	p.C9R	PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.C9R	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	9					female pregnancy	extracellular region					0		Prostate(69;0.00682)				TGCTGTGTGCAGGGAGGGGCT	0.577													G	43441204	A	G	43441204	3	3	235	1	0	0	0	0	1	0	0	0	12660	188	7	3	1258	3	PSG7	19	43441204	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	11104	43441204	15687779	1423	119016											
XRCC1	7515	broad.mit.edu	37	chr19	44056299	44056300	+	Frame_Shift_Ins	INS	-	-	C													accacaccctgaaggatcttINSccccagctcctctgggccag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:44056299_44056300insC	uc002owt.2	-	9	1071_1072	c.951_952insG	c.(949-954)GGGAAGfs	p.G317fs	XRCC1_uc010xwp.1_Frame_Shift_Ins_p.G286fs	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	317_318	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				TGAAGGATCTTCCCCAGCTCCT	0.569								Other_BER_factors					C	44056300	-	C	44056299	7	5	235	1	0	1	1	0	0	0	0	0	17449	1792	62	0	985	0	XRCC1	19	44056299	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	615095	44056299	15072684	1424	119017	602	2									
XRCC1	7515	broad.mit.edu	37	chr19	44056300	44056301	+	Frame_Shift_Ins	INS	-	-	C													ccacaccctgaaggatcttcINScccagctcctctgggccagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:44056299_44056300T>TC	uc002owt.2	-	8	1071_1072	c.951_952A>GA	c.(949-954)gggaagfs	p.G317fs	XRCC1_uc010xwp.1_Frame_Shift_Ins_p.G286fs	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	317	BRCT 1.				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)				TGAAGGATCTTCCCCAGCTCCT	0.653								Other BER factors					C	44056301	-	C	44056300	7	5	235	1	0	1	1	0	0	0	0	0	17449	842	30	0	986	0	XRCC1	19	44056300	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	44056300	15072683	1425	119018	602	2									
PVRL2	5819	broad.mit.edu	37	chr19	45385573	45385573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggcatccttatctgccGgcagcagcggaaggagcaga	14	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:45385573G>A	uc002ozw.1	+	6	1538	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	383	Cytoplasmic (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|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|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTTATCTGCCGGCAGCAGCGG	0.642													A	45385573	G	A	45385573	3	1	235	1	0	0	0	0	1	0	0	0	12840	1116	39	1	1572	1	PVRL2	19	45385573	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1329273	45385573	13743410	1426	119019											
RTN2	6253	broad.mit.edu	37	chr19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-													gaacccggaggacaggagtaGggggggtggggcccctttgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572													-	45996513	G	-	45996513	7	5	235	1	0	1	0	1	0	0	0	0	13726	1000	35	0	727	0	RTN2	19	45996513	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	610940	45996513	13132470	1427	119020											
VASP	7408	broad.mit.edu	37	chr19	46027364	46027364	+	Missense_Mutation	SNP	G	G	A													cctatccccagaatctgtgcGgagaccctgggagaagaaca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46027364G>A	uc002pcg.2	+	10	1262	c.920G>A	c.(919-921)CGG>CAG	p.R307Q	VASP_uc010eki.2_Missense_Mutation_p.R141Q|VASP_uc002pci.2_Missense_Mutation_p.R293Q	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	307	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GAATCTGTGCGGAGACCCTGG	0.413											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46027364	G	A	46027364	3	1	235	1	0	0	0	0	1	0	0	0	17125	1116	39	1	958	1	VASP	19	46027364	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	30851	46027364	13101619	1428	119021	603	2									
VASP	7408	broad.mit.edu	37	chr19	46027366	46027366	+	Silent	SNP	A	A	C													tatccccagaatctgtgcggAgaccctgggagaagaacagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46027366A>C	uc002pcg.2	+	10	1264	c.922A>C	c.(922-924)AGA>CGA	p.R308R	VASP_uc010eki.2_Silent_p.R142R|VASP_uc002pci.2_Silent_p.R294R	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	308	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		ATCTGTGCGGAGACCCTGGGA	0.413											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	46027366	A	C	46027366	2	2	235	1	0	0	0	0	0	0	0	1	17125	296	11	5		5	VASP	19	46027366	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2	46027366	13101617	1429	119022	603	2									
FBXO46	23403	broad.mit.edu	37	chr19	46216376	46216376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttggccttggagctatcGctgccccagtgccccttgac	11	16	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46216376G>A	uc002pcy.2	-	2	503	c.378C>T	c.(376-378)AGC>AGT	p.S126S	FBXO46_uc002pcz.2_Silent_p.S126S	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	126							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		TGGAGCTATCGCTGCCCCAGT	0.682													A	46216376	G	A	46216376	2	1	235	1	0	0	0	0	0	0	0	1	5755	1078	38	1		1	FBXO46	19	46216376	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	189010	46216376	12912607	1430	119023											
DMWD	1762	broad.mit.edu	37	chr19	46289337	46289337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacccctcgagctgctggCggccggtggcgtggtgccag	17	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46289337C>T	uc002pdj.1	-	3	1463	c.1417G>A	c.(1417-1419)GCC>ACC	p.A473T	DMWD_uc002pdk.1_Missense_Mutation_p.A473T|DMWD_uc010eko.1_Missense_Mutation_p.A158T	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	473					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GAGCTGCTGGCGGCCGGTGGC	0.741													T	46289337	C	T	46289337	3	4	235	1	0	0	0	0	1	0	0	0	4593	768	27	1	619	1	DMWD	19	46289337	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	72961	46289337	12839646	1431	119024											
PPP5C	5536	broad.mit.edu	37	chr19	46857176	46857176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagaagtacatcaaggGttattaccgccgggctgcca	12	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:46857176G>A	uc002pem.2	+	2	353	c.293G>A	c.(292-294)GGT>GAT	p.G98D	PPP5C_uc010xya.1_Intron|PPP5C_uc002pen.2_Missense_Mutation_p.G98D	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	98	TPR 3.				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			lung(1)|pancreas(1)	2		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)		TACATCAAGGGTTATTACCGC	0.642													A	46857176	G	A	46857176	3	1	235	1	0	0	0	0	1	0	0	0	12406	1261	44	4	299	4	PPP5C	19	46857176	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	567839	46857176	12271807	1432	119025											
SLC1A5	6510	broad.mit.edu	37	chr19	47282088	47282088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaatgtacttgccaaggCgggcaaagagtaaacccaca	10	10	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:47282088C>T	uc002pfs.2	-	5	1522	c.902G>A	c.(901-903)CGC>CAC	p.R301H	SLC1A5_uc010xyh.1_Missense_Mutation_p.R99H|SLC1A5_uc002pfq.2_Missense_Mutation_p.R125H|SLC1A5_uc002pfr.2_Missense_Mutation_p.R73H	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	301					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTTGCCAAGGCGGGCAAAGAG	0.562													T	47282088	C	T	47282088	3	4	235	1	0	0	0	0	1	0	0	0	14435	768	27	1	739	1	SLC1A5	19	47282088	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	424912	47282088	11846895	1433	119026											
SLC8A2	6543	broad.mit.edu	37	chr19	47935695	47935695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacccgtcctcctcctcctcCtcgtcccctgtgggcacacg	8	21	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:47935695C>G	uc002pgx.2	-	9	2396	c.2118G>C	c.(2116-2118)GAG>GAC	p.E706D	SLC8A2_uc010xyq.1_Missense_Mutation_p.E462D|SLC8A2_uc010xyr.1_Missense_Mutation_p.E169D|SLC8A2_uc010ele.2_Missense_Mutation_p.E706D	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	706	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		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)		CCTCCTCCTCCTCGTCCCCTG	0.602													G	47935695	C	G	47935695	3	3	235	1	0	0	0	0	1	0	0	0	14707	680	24	5	655	5	SLC8A2	19	47935695	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	653607	47935695	11193288	1434	119027											
DBP	1628	broad.mit.edu	37	chr19	49136701	49136703	+	In_Frame_Del	DEL	CTT	CTT	-													ccacatccagctctgctcacCttctgctcctccggcacctg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49136701_49136703delCTT	uc002pjx.3	-	3	1148_1150	c.760_762delAAG	c.(760-762)AAGdel	p.K254del	DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_In_Frame_Del_p.K254del	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	254					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				0		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)		CTCTGCTCACCTTCTGCTCCTCC	0.552													-	49136703	CTT	-	49136701	7	5	235	1	0	1	0	1	0	0	0	0	4256	695	24	0	223	0	DBP	19	49136701	In_Frame_Del	DEL	CTT	TCGA-F1-6177-01A-11D-1800-08	1201006	49136701	9992282	1435	119028											
CGB2	114336	broad.mit.edu	37	chr19	49535283	49535283	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgtctcactcccccaCggagactcaatttactttcc	4	18	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49535283C>T	uc002plw.2	+	1	154	c.-69C>T	c.(-71--67)CACGG>CATGG		CGB_uc010yad.1_Intron|SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.1_Translation_Start_Site|CGB2_uc010yag.1_5'Flank	NM_033378	NP_203696			chorionic gonadotropin, beta polypeptide 2												0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACTCCCCCACGGAGACTCAA	0.557													T	49535283	C	T	49535283	1	4	235	1	0	0	0	0	0	0	0	0	3298	551	19	1		1	CGB2	19	49535283	Translation_Start_Site	SNP	C	TCGA-F1-6177-01A-11D-1800-08	398582	49535283	9593700	1436	119029											
TEAD2	8463	broad.mit.edu	37	chr19	49850473	49850474	+	Frame_Shift_Ins	INS	-	-	G													ttgaccaggaagaaggcatgINSgggggggccacgatcatata							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49850472_49850473T>TG	uc002pnh.3	-	9	1001_1002	c.895_896A>CA	c.(895-897)catfs	p.H299fs	TEAD2_uc002png.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pni.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pnj.3_Frame_Shift_Ins_p.H295fs|TEAD2_uc010yao.2_Frame_Shift_Ins_p.H167fs|TEAD2_uc010emw.3_Frame_Shift_Ins_p.H298fs	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)|p.L299P(1)		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)		GAAGAAGGCATGGGGGGGGCCA	0.564													G	49850474	-	G	49850473	7	5	235	1	0	1	1	0	0	0	0	0	15736	1348	47	0	476	0	TEAD2	19	49850473	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	315190	49850473	9278510	1437	119030											
SLC17A7	57030	broad.mit.edu	37	chr19	49934362	49934362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccatgaggatgctggcGtagcgcggggctatgtccag	16	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:49934362G>A	uc002pnp.2	-	11	1471	c.1299C>T	c.(1297-1299)TAC>TAT	p.Y433Y	SLC17A7_uc002pno.2_Silent_p.Y95Y	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	433	Cytoplasmic (Potential).				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			ovary(1)|pancreas(1)|skin(1)	3		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)		GGATGCTGGCGTAGCGCGGGG	0.617													A	49934362	G	A	49934362	2	1	235	1	0	0	0	0	0	0	0	1	14422	1140	40	1		1	SLC17A7	19	49934362	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	83889	49934362	9194621	1438	119031											
PRR12	57479	broad.mit.edu	37	chr19	50098867	50098867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggtgggccagcagcCgcctatgccactgggaaggc	16	13	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50098867C>T	uc002poo.3	+	4	1275	c.1275C>T	c.(1273-1275)GCC>GCT	p.A425A		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCCAGCAGCCGCCTATGCCA	0.701													T	50098867	C	T	50098867	2	4	235	1	0	0	0	0	0	0	0	1	12584	639	23	1		1	PRR12	19	50098867	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	164505	50098867	9030116	1439	119032											
PRR12	57479	broad.mit.edu	37	chr19	50099458	50099458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcaagggggatggctcGgagctgctggcgggcccagg	21	9	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50099458G>A	uc002poo.3	+	4	1866	c.1866G>A	c.(1864-1866)TCG>TCA	p.S622S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGATGGCTCGGAGCTGCTGG	0.667													A	50099458	G	A	50099458	2	1	235	1	0	0	0	0	0	0	0	1	12584	1103	39	1		1	PRR12	19	50099458	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	591	50099458	9029525	1440	119033											
MYH14	79784	broad.mit.edu	37	chr19	50796825	50796825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgtctccctagggcaGccattctggaggagaagcgt	12	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50796825G>T	uc002prr.1	+	37	5274	c.5227G>T	c.(5227-5229)GCC>TCC	p.A1743S	MYH14_uc010enu.1_Missense_Mutation_p.A1784S|MYH14_uc002prq.1_Missense_Mutation_p.A1751S|MYH14_uc010ycb.1_Missense_Mutation_p.A94S|MYH14_uc002prs.1_Missense_Mutation_p.A94S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1743	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCTAGGGCAGCCATTCTGGA	0.612													T	50796825	G	T	50796825	3	4	235	1	0	0	0	0	1	0	0	0	10033	971	34	5	5500	5	MYH14	19	50796825	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	697367	50796825	8332158	1441	119034											
MYBPC2	4606	broad.mit.edu	37	chr19	50961966	50961966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaacatcgcggggcgcagcGagccggccaccctggcccag	14	17	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:50961966G>A	uc002psf.2	+	21	2512	c.2461G>A	c.(2461-2463)GAG>AAG	p.E821K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	821	Fibronectin type-III 2.				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)		GGGGCGCAGCGAGCCGGCCAC	0.677													A	50961966	G	A	50961966	3	1	235	1	0	0	0	0	1	0	0	0	10012	1059	37	1	2543	1	MYBPC2	19	50961966	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	165141	50961966	8167017	1442	119035											
SHANK1	50944	broad.mit.edu	37	chr19	51220126	51220126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccccctcgggacactcGctggcactgtggcgttcctc	12	17	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:51220126G>A	uc002psx.1	-	1	70	c.51C>T	c.(49-51)AGC>AGT	p.S17S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	17					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGGACACTCGCTGGCACTGT	0.736													A	51220126	G	A	51220126	2	1	235	1	0	0	0	0	0	0	0	1	14264	1078	38	1		1	SHANK1	19	51220126	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	258160	51220126	7908857	1443	119036											
KLK15	55554	broad.mit.edu	37	chr19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaacatgatgtcgttgCggtggctgcgcgcttcgtag	15	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:51330304C>T	uc002ptl.2	-	3	342	c.311G>A	c.(310-312)CGC>CAC	p.R104H	KLK15_uc002ptm.2_Missense_Mutation_p.R104H|KLK15_uc002ptn.2_Missense_Mutation_p.R104H|KLK15_uc002pto.2_Missense_Mutation_p.R103H|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.R103H|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GATGTCGTTGCGGTGGCTGCG	0.697													T	51330304	C	T	51330304	3	4	235	1	0	0	0	0	1	0	0	0	8403	768	27	1	471	1	KLK15	19	51330304	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	110178	51330304	7798679	1444	119037											
LENG1	79165	broad.mit.edu	37	chr19	54662136	54662136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggggctcccgcctctgCtgcttcaagctcaggcagtg	12	15	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:54662136C>T	uc002qdm.2	-	2	209	c.196G>A	c.(196-198)GCA>ACA	p.A66T		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	66										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGCCTCTGCTGCTTCAAGC	0.537													T	54662136	C	T	54662136	3	4	235	1	0	0	0	0	1	0	0	0	8723	797	28	2	610	2	LENG1	19	54662136	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3331832	54662136	4466847	1445	119038											
LILRA6	79168	broad.mit.edu	37	chr19	54742915	54742915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaccaggaccaagcctgCcatgcccatgcggatgagat	11	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:54742915C>T	uc002qeu.1	-	8	1484	c.1360G>A	c.(1360-1362)GCA>ACA	p.A454T	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.A298T	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	454	Helical; (Potential).					integral to membrane	receptor activity			skin(2)	2	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)		ACCAAGCCTGCCATGCCCATG	0.572													T	54742915	C	T	54742915	3	4	235	1	0	0	0	0	1	0	0	0	8789	739	26	2	89	2	LILRA6	19	54742915	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	80779	54742915	4386068	1446	119039											
NLRP7	199713	broad.mit.edu	37	chr19	55450647	55450647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtcctacttgaatcaggtCggggttcttgagtctttctt	11	8	4	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55450647C>T	uc002qih.3	-	4	1616	c.1540G>A	c.(1540-1542)GAC>AAC	p.D514N	NLRP7_uc002qig.3_Missense_Mutation_p.D514N|NLRP7_uc002qii.3_Missense_Mutation_p.D514N|NLRP7_uc010esk.2_Missense_Mutation_p.D514N|NLRP7_uc010esl.2_Missense_Mutation_p.D542N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	514							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TGAATCAGGTCGGGGTTCTTG	0.577													T	55450647	C	T	55450647	3	4	235	1	0	0	0	0	1	0	0	0	10482	884	31	1	1605	1	NLRP7	19	55450647	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	707732	55450647	3678336	1447	119040											
NLRP2	55655	broad.mit.edu	37	chr19	55494233	55494233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctaatgaggagcaacgcGgccctgttccagctgggctc	14	12	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55494233G>A	uc002qij.2	+	6	1253	c.1167G>A	c.(1165-1167)GCG>GCA	p.A389A	NLRP2_uc010yfp.1_Silent_p.A366A|NLRP2_uc010esn.2_Silent_p.A365A|NLRP2_uc010eso.2_Silent_p.A386A|NLRP2_uc010esp.2_Silent_p.A367A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	389	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGAGCAACGCGGCCCTGTTCC	0.632													A	55494233	G	A	55494233	2	1	235	1	0	0	0	0	0	0	0	1	10477	1103	39	1		1	NLRP2	19	55494233	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	43586	55494233	3634750	1448	119041											
BRSK1	84446	broad.mit.edu	37	chr19	55815036	55815037	+	Splice_Site	INS	-	-	C													gaaactgttgtccctcagacINScccccccggaagcgtgtgga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55815035_55815036A>AC	uc002qkf.3	+	14	1302	c.1175_splice	c.e14-1	p.D392_splice	BRSK1_uc002qkg.3_Splice_Site_p.D376_splice|BRSK1_uc002qkh.3_Splice_Site_p.D71_splice|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	376					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		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)		TGTCCCTCAGACCCCCCCCGGA	0.579													C	55815037	-	C	55815036	8	5	235	1	0	1	1	0	0	0	1	0	1523	521	18	0	1174	0	BRSK1	19	55815036	Splice_Site	INS	-	TCGA-F1-6177-01A-11D-1800-08	320803	55815036	3313947	1449	119042											
ZNF628	89887	broad.mit.edu	37	chr19	55994334	55994334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgtgcacacgggcgagCggcccttccgctgcccgctc	14	18	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:55994334C>T	uc002qld.2	+	3	2327	c.1762C>T	c.(1762-1764)CGG>TGG	p.R588W	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	588						nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CACGGGCGAGCGGCCCTTCCG	0.711													T	55994334	C	T	55994334	3	4	235	1	0	0	0	0	1	0	0	0	18049	759	27	1	1764	1	ZNF628	19	55994334	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	179298	55994334	3134649	1450	119043											
NLRP9	338321	broad.mit.edu	37	chr19	56226424	56226424	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatggccggtcctaccacAgctcccgtatgctgcagcct	9	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:56226424A>C	uc002qly.2	-	6	2526	c.2498T>G	c.(2497-2499)CTG>CGG	p.L833R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	833	LRR 4.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTCCTACCACAGCTCCCGTAT	0.483													C	56226424	A	C	56226424	3	2	235	1	0	0	0	0	1	0	0	0	10484	188	7	5	493	5	NLRP9	19	56226424	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	232090	56226424	2902559	1451	119044											
NLRP11	204801	broad.mit.edu	37	chr19	56307593	56307593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatttcttcacattcgctgGctcgcaaatcacatttcatc	5	13	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:56307593G>A	uc010ygf.1	-	8	2906	c.2195C>T	c.(2194-2196)GCC>GTC	p.A732V	NLRP11_uc002qlz.2_Missense_Mutation_p.A579V|NLRP11_uc002qmb.2_Missense_Mutation_p.A633V|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	732							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACATTCGCTGGCTCGCAAATC	0.433													A	56307593	G	A	56307593	3	1	235	1	0	0	0	0	1	0	0	0	10473	1203	42	2	926	2	NLRP11	19	56307593	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	81169	56307593	2821390	1452	119045											
ZNF71	58491	broad.mit.edu	37	chr19	57133494	57133494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgcgggcgagccttcaGccagaacatgcacctgaccg	13	14	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:57133494G>A	uc002qnm.3	+	3	1077	c.839G>A	c.(838-840)AGC>AAC	p.S280N		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	280	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGAGCCTTCAGCCAGAACATG	0.652													A	57133494	G	A	57133494	3	1	235	1	0	0	0	0	1	0	0	0	18111	971	34	2	841	2	ZNF71	19	57133494	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	825901	57133494	1995489	1453	119046											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850459	58850459	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtgtgacgcgtgtggcCgagccttcagcgactgctca	13	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58850459C>T	uc002qsc.2	+	3	1390	c.1243C>T	c.(1243-1245)CGA>TGA	p.R415*	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	415	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		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)		CGCGTGTGGCCGAGCCTTCAG	0.577													T	58850459	C	T	58850459	4	4	235	1	0	0	0	0	0	1	0	0	18231	644	23	1	1249	1	ZSCAN22	19	58850459	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1716965	58850459	278524	1454	119047											
ZNF324	25799	broad.mit.edu	37	chr19	58982534	58982534	+	Silent	SNP	T	T	C													cggggacatcaccgaatgggTgcagtttggcaggagcctca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58982534T>C	uc002qsw.1	+	4	769	c.675T>C	c.(673-675)GGT>GGC	p.G225G	ZNF324_uc002qsx.1_Silent_p.G2G	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		ACCGAATGGGTGCAGTTTGGC	0.642													C	58982534	T	C	58982534	2	2	235	1	0	0	0	0	0	0	0	1	17841	1683	59	3		3	ZNF324	19	58982534	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	132075	58982534	146449	1455	119048	604	2									
ZNF324	25799	broad.mit.edu	37	chr19	58982539	58982539	+	Missense_Mutation	SNP	T	T	C													acatcaccgaatgggtgcagTttggcaggagcctcatagac							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58982539T>C	uc002qsw.1	+	4	774	c.680T>C	c.(679-681)GTT>GCT	p.V227A	ZNF324_uc002qsx.1_Missense_Mutation_p.V4A	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		ATGGGTGCAGTTTGGCAGGAG	0.647													C	58982539	T	C	58982539	3	2	235	1	0	0	0	0	1	0	0	0	17841	1725	60	3	690	3	ZNF324	19	58982539	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	5	58982539	146444	1456	119049	604	2									
ZNF446	55663	broad.mit.edu	37	chr19	58988598	58988598	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcaagaatgccatcccctCtgggtcccccatgcctgccc	9	18	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:58988598C>T	uc002qsz.2	+	2	130	c.13C>T	c.(13-15)CTG>TTG	p.L5L	ZNF446_uc002qta.2_Silent_p.L5L|ZNF446_uc010eur.2_Silent_p.L5L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	5					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		GCCATCCCCTCTGGGTCCCCC	0.607													T	58988598	C	T	58988598	2	4	235	1	0	0	0	0	0	0	0	1	17916	912	32	4		4	ZNF446	19	58988598	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6059	58988598	140385	1457	119050											
MZF1	7593	broad.mit.edu	37	chr19	59073494	59073494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggtgctctggtggaagCggcggccacagtcctggcag	17	11	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr19:59073494C>T	uc002qto.2	-	6	2711	c.2150G>A	c.(2149-2151)CGC>CAC	p.R717H	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.R717H	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	717	C2H2-type 13.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		CTGGTGGAAGCGGCGGCCACA	0.622													T	59073494	C	T	59073494	3	4	235	1	0	0	0	0	1	0	0	0	10108	768	27	1	58	1	MZF1	19	59073494	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	84896	59073494	55489	1458	119051											
ZCCHC3	85364	broad.mit.edu	37	chr20	279025	279025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggaacgagacggtggaCgtggaggacattgtgacttg	16	7	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:279025C>T	uc002wdf.2	+	2	819	c.795C>T	c.(793-795)GAC>GAT	p.D265D	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	266							nucleic acid binding|zinc ion binding				0		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)			AGACGGTGGACGTGGAGGACA	0.597													T	279025	C	T	279025	2	4	235	1	0	0	0	0	0	0	0	1	17586	535	19	1		1	ZCCHC3	20	279025	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08		279025	62746495	1459	119052											
PSMF1	9491	broad.mit.edu	37	chr20	1145691	1145691	+	Frame_Shift_Del	DEL	C	C	-													agacctaacccagaccatctCcccccgccgggctacgatga							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:1145691delC	uc002wel.3	+	8	951	c.783delC	c.(781-783)CTCfs	p.L261fs	PSMF1_uc010zpo.1_Intron|PSMF1_uc002wem.3_Intron|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Frame_Shift_Del_p.L261fs|PSMF1_uc002wep.3_Frame_Shift_Del_p.L212fs	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	proteasome inhibitor subunit 1	261	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				0						CAGACCATCTCCCCCCGCCGG	0.577													-	1145691	C	-	1145691	7	5	235	1	0	1	0	1	0	0	0	0	12710	842	30	0	809	0	PSMF1	20	1145691	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	866666	1145691	61879829	1460	119053											
SNPH	9751	broad.mit.edu	37	chr20	1281343	1281343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggacacacaggaccGgctccaggaccggtgagcgg	16	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:1281343G>A	uc002wes.2	+	5	532	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	SNPH_uc002wet.2_Missense_Mutation_p.R143Q	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	99	Potential.				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						ACACAGGACCGGCTCCAGGAC	0.677													A	1281343	G	A	1281343	3	1	235	1	0	0	0	0	1	0	0	0	14850	1116	39	1	306	1	SNPH	20	1281343	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	135652	1281343	61744177	1461	119054											
SIRPB1	10326	broad.mit.edu	37	chr20	1559072	1559072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacacagtagtaggtgccGgcgtctgctggggtgatgtt	15	8	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:1559072G>A	uc010gai.2	-	2	444	c.345C>T	c.(343-345)GCC>GCT	p.A115A	SIRPB1_uc002wfk.3_Silent_p.A115A	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	115	Extracellular (Potential).|Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						AGTAGGTGCCGGCGTCTGCTG	0.532													A	1559072	G	A	1559072	2	1	235	1	0	0	0	0	0	0	0	1	14333	1103	39	1		1	SIRPB1	20	1559072	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	277729	1559072	61466448	1462	119055											
IDH3B	3420	broad.mit.edu	37	chr20	2640407	2640407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggattggctatattcctGcccactgcctgggcaaatgg	13	10	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:2640407G>A	uc002wgp.2	-	10	957	c.948C>T	c.(946-948)GGC>GGT	p.G316G	IDH3B_uc002wgq.2_Silent_p.G316G|IDH3B_uc002wgr.2_Silent_p.G164G	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	316					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CTATATTCCTGCCCACTGCCT	0.607													A	2640407	G	A	2640407	2	1	235	1	0	0	0	0	0	0	0	1	7497	1306	46	2		2	IDH3B	20	2640407	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1081335	2640407	60385113	1463	119056											
VPS16	64601	broad.mit.edu	37	chr20	2841159	2841159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtttggttccggagtggCcatcctcacaggggcccacc	13	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:2841159C>T	uc002whe.2	+	5	482	c.434C>T	c.(433-435)GCC>GTC	p.A145V	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.A145V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	145					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						TCCGGAGTGGCCATCCTCACA	0.607													T	2841159	C	T	2841159	3	4	235	1	0	0	0	0	1	0	0	0	17190	739	26	2	452	2	VPS16	20	2841159	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	200752	2841159	60184361	1464	119057											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146682	3146682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccccccaccgctgctgcCgccactaccactaccatagc	6	22	0	0	rs113680437		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:3146682C>T	uc002wia.1	-	2	2182	c.784G>A	c.(784-786)GGC>AGC	p.G262S	ProSAPiP1_uc002wib.1_Missense_Mutation_p.G262S	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	262						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CCGCTGCTGCCGCCACTACCA	0.647													T	3146682	C	T	3146682	3	4	235	1	0	0	0	0	1	0	0	0	12870	652	23	1	1245	1	ProSAPiP1	20	3146682	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	305523	3146682	59878838	1465	119058											
SIGLEC1	6614	broad.mit.edu	37	chr20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctctgcttacaaacaCgcctccttctgcaaggcccg	7	17	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:3669866C>T	uc002wja.2	-	20	5006	c.5006G>A	c.(5005-5007)CGT>CAT	p.R1669H	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Intron	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1669	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.1670_1673del(1)		pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CTTACAAACACGCCTCCTTCT	0.582													T	3669866	C	T	3669866	3	4	235	1	0	0	0	0	1	0	0	0	14305	536	19	1	131	1	SIGLEC1	20	3669866	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	523184	3669866	59355654	1466	119059											
CENPB	1059	broad.mit.edu	37	chr20	3766686	3766686	+	Frame_Shift_Del	DEL	G	G	-													ggcaggcgccgccggggtgcGgggggcagcgtttcgcgcgc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:3766686delG	uc002wjk.2	-	1	652	c.445delC	c.(445-447)CGCfs	p.R149fs	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	149					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						GCCGGGGTGCGGGGGGCAGCG	0.781													-	3766686	G	-	3766686	7	5	235	1	0	1	0	1	0	0	0	0	3227	1116	39	0	1358	0	CENPB	20	3766686	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	96820	3766686	59258834	1467	119060											
PRND	23627	broad.mit.edu	37	chr20	4705664	4705664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggggcgcaggacttcGggtcaccatgcaccagccag	16	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:4705664G>A	uc002wkz.2	+	2	538	c.467G>A	c.(466-468)CGG>CAG	p.R156Q		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	156					protein homooligomerization	anchored to membrane|plasma membrane					0						GCAGGACTTCGGGTCACCATG	0.597													A	4705664	G	A	4705664	3	1	235	1	0	0	0	0	1	0	0	0	12543	1116	39	1	469	1	PRND	20	4705664	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	938978	4705664	58319856	1468	119061											
MCM8	84515	broad.mit.edu	37	chr20	5952655	5952655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtgttctgtttttcagctCgctttgccctgtcatttttg	8	9	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:5952655C>T	uc002wmi.2	+	11	1603	c.1226C>T	c.(1225-1227)TCG>TTG	p.S409L	MCM8_uc002wmj.2_Missense_Mutation_p.S393L|MCM8_uc002wmk.2_Intron|MCM8_uc002wml.2_Missense_Mutation_p.S409L|MCM8_uc010gbp.2_Missense_Mutation_p.S409L|MCM8_uc002wmm.2_5'UTR	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	409	MCM.				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			skin(1)	1						TTTTTCAGCTCGCTTTGCCCT	0.289													T	5952655	C	T	5952655	3	4	235	1	0	0	0	0	1	0	0	0	9393	893	31	1	1264	1	MCM8	20	5952655	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1246991	5952655	57072865	1469	119062											
LRRN4	164312	broad.mit.edu	37	chr20	6021949	6021949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccagcacgcacacgcGgtaggtggtgcccggcgaca	16	15	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:6021949G>A	uc002wmo.2	-	5	2166	c.1942C>T	c.(1942-1944)CGC>TGC	p.R648C		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	648	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)	3						ACGCACACGCGGTAGGTGGTG	0.721													A	6021949	G	A	6021949	3	1	235	1	0	0	0	0	1	0	0	0	9037	1116	39	1	284	1	LRRN4	20	6021949	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	69294	6021949	57003571	1470	119063											
C20orf94	128710	broad.mit.edu	37	chr20	10582435	10582435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtcagcttgcattcagtCgtgatcttttagcaagtcag	9	9	5	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:10582435C>T	uc010zre.1	+	6	553	c.373C>T	c.(373-375)CGT>TGT	p.R125C		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	125							protein binding				0						TGCATTCAGTCGTGATCTTTT	0.318													T	10582435	C	T	10582435	3	4	235	1	0	0	0	0	1	0	0	0	2121	884	31	1	391	1	C20orf94	20	10582435	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4560486	10582435	52443085	1471	119064											
RRBP1	6238	broad.mit.edu	37	chr20	17601385	17601385	+	Missense_Mutation	SNP	C	C	T													ggagctcctcctctgcggcgCccaccttggccctccacacc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:17601385C>T	uc002wpv.1	-	18	2537	c.2183G>A	c.(2182-2184)GGC>GAC	p.G728D	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.G98D|RRBP1_uc002wpu.2_Missense_Mutation_p.G502D|RRBP1_uc002wpw.1_Missense_Mutation_p.G728D|RRBP1_uc010gcl.1_Missense_Mutation_p.G502D|RRBP1_uc010gcm.1_Missense_Mutation_p.G181D	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1161	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CTCTGCGGCGCCCACCTTGGC	0.647													T	17601385	C	T	17601385	3	4	235	1	0	0	0	0	1	0	0	0	13678	739	26	2	786	2	RRBP1	20	17601385	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7018950	17601385	45424135	1472	119065	605	2									
RRBP1	6238	broad.mit.edu	37	chr20	17601390	17601390	+	Missense_Mutation	SNP	C	C	A													tcctcctctgcggcgcccacCttggccctccacacctgctc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:17601390C>A	uc002wpv.1	-	18	2532	c.2178G>T	c.(2176-2178)AAG>AAT	p.K726N	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.K96N|RRBP1_uc002wpu.2_Missense_Mutation_p.K500N|RRBP1_uc002wpw.1_Missense_Mutation_p.K726N|RRBP1_uc010gcl.1_Missense_Mutation_p.K500N|RRBP1_uc010gcm.1_Missense_Mutation_p.K179N	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1159	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CGGCGCCCACCTTGGCCCTCC	0.657													A	17601390	C	A	17601390	3	1	235	1	0	0	0	0	1	0	0	0	13678	680	24	5	791	5	RRBP1	20	17601390	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5	17601390	45424130	1473	119066	605	2									
RRBP1	6238	broad.mit.edu	37	chr20	17617252	17617252	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgcacctccttcacGtgctcccggtagctggcctg	11	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:17617252G>A	uc010gcm.1	-	1	123	c.-235C>T	c.(-237--233)CACGT>CATGT		RRBP1_uc002wpu.2_Silent_p.H110H|RRBP1_uc002wpv.1_Silent_p.H336H|RRBP1_uc002wpw.1_Silent_p.H336H|RRBP1_uc010gcl.1_Silent_p.H110H			Q9P2E9	RRBP1_HUMAN	Homo sapiens mRNA for KIAA1398 protein, partial cds.						protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCTCCTTCACGTGCTCCCGGT	0.662													A	17617252	G	A	17617252	1	1	235	1	0	0	0	0	0	0	0	0	13678	1136	40	1		1	RRBP1	20	17617252	Translation_Start_Site	SNP	G	TCGA-F1-6177-01A-11D-1800-08	15862	17617252	45408268	1474	119067											
RALGAPA2	57186	broad.mit.edu	37	chr20	20527373	20527373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtctgtgctaaggaccCtggcagcggccgtgatgaag	14	9	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:20527373C>A	uc002wrz.2	-	24	3403	c.3260G>T	c.(3259-3261)AGG>ATG	p.R1087M	RALGAPA2_uc010gcx.2_Missense_Mutation_p.R791M|RALGAPA2_uc010zsg.1_Missense_Mutation_p.R535M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1087					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GCTAAGGACCCTGGCAGCGGC	0.507													A	20527373	C	A	20527373	3	1	235	1	0	0	0	0	1	0	0	0	13014	681	24	5	2425	5	RALGAPA2	20	20527373	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2910121	20527373	42498147	1475	119068											
XRN2	22803	broad.mit.edu	37	chr20	21312221	21312221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttatctgatgctagtgCtcctggtgaaggagaacata	10	6	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:21312221C>T	uc002wsf.1	+	7	694	c.599C>T	c.(598-600)GCT>GTT	p.A200V	XRN2_uc002wsg.1_Missense_Mutation_p.A124V|XRN2_uc010zsk.1_Missense_Mutation_p.A146V	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	200					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			skin(1)	1						GATGCTAGTGCTCCTGGTGAA	0.294													T	21312221	C	T	21312221	3	4	235	1	0	0	0	0	1	0	0	0	17457	797	28	2	625	2	XRN2	20	21312221	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	784848	21312221	41713299	1476	119069											
XRN2	22803	broad.mit.edu	37	chr20	21369921	21369921	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttattttcagggatatcccaGagaaggaaggaaataccctt	9	7	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:21369921G>A	uc002wsf.1	+	30	2893	c.2798G>A	c.(2797-2799)AGA>AAA	p.R933K	XRN2_uc002wsg.1_Missense_Mutation_p.R857K|XRN2_uc010zsk.1_Missense_Mutation_p.R879K|XRN2_uc002wsh.1_Missense_Mutation_p.R71K	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	933					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			skin(1)	1						GGATATCCCAGAGAAGGAAGG	0.363													A	21369921	G	A	21369921	3	1	235	1	0	0	0	0	1	0	0	0	17457	942	33	4	2916	4	XRN2	20	21369921	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	57700	21369921	41655599	1477	119070											
TMEM90B	79953	broad.mit.edu	37	chr20	24523741	24523741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagagagtaccatggatgGcatcattgaacagaagagca	14	6	1	4			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:24523741G>A	uc002wtw.1	+	2	641	c.8G>A	c.(7-9)GGC>GAC	p.G3D		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	3	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						ACCATGGATGGCATCATTGAA	0.507													A	24523741	G	A	24523741	3	1	235	1	0	0	0	0	1	0	0	0	16216	1203	42	2	10	2	TMEM90B	20	24523741	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3153820	24523741	38501779	1478	119071											
ASXL1	171023	broad.mit.edu	37	chr20	31021635	31021635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccccggcttgaagatcGtcagtcctttcgtaacacaa	9	12	1	2	rs149449801		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:31021635G>A	uc002wxs.2	+	11	2060	c.1634G>A	c.(1633-1635)CGT>CAT	p.R545H	ASXL1_uc010geb.2_Missense_Mutation_p.R436H	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CTTGAAGATCGTCAGTCCTTT	0.522			F|N|Mis		MDS|CMML								A	31021635	G	A	31021635	3	1	235	1	0	0	0	0	1	0	0	0	1066	1145	40	1	1686	1	ASXL1	20	31021635	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6497894	31021635	32003885	1479	119072											
C20orf112	140688	broad.mit.edu	37	chr20	31044122	31044122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggggaaggcagggtcGccctgcgtgctgctcgacgt	16	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:31044122G>A	uc002wxu.3	-	3	343	c.186C>T	c.(184-186)GGC>GGT	p.G62G	C20orf112_uc010gec.2_5'UTR	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	62											0						AGGCAGGGTCGCCCTGCGTGC	0.637													A	31044122	G	A	31044122	2	1	235	1	0	0	0	0	0	0	0	1	2081	1074	38	1		1	C20orf112	20	31044122	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	22487	31044122	31981398	1480	119073											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232182	32232182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtggccgcaaagccagCgagacatgcagtggctgcaa	13	11	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:32232182C>T	uc002wzg.1	+	12	2082	c.1545C>T	c.(1543-1545)AGC>AGT	p.S515S	CBFA2T2_uc010zug.1_Silent_p.S289S|CBFA2T2_uc002wze.1_Silent_p.S506S|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.S486S|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.S63S	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	515						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						GCAAAGCCAGCGAGACATGCA	0.567													T	32232182	C	T	32232182	2	4	235	1	0	0	0	0	0	0	0	1	2697	767	27	1		1	CBFA2T2	20	32232182	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1188060	32232182	30793338	1481	119074											
PXMP4	11264	broad.mit.edu	37	chr20	32298427	32298427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggccgccaggaatgcGtgtgctgggtaggtcttgcc	17	9	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:32298427G>A	uc002wzv.2	-	3	432	c.309C>T	c.(307-309)CAC>CAT	p.H103H	PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Missense_Mutation_p.T110M	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	103	Helical; (Potential).					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						CCAGGAATGCGTGTGCTGGGT	0.542													A	32298427	G	A	32298427	2	1	235	1	0	0	0	0	0	0	0	1	12851	1136	40	1		1	PXMP4	20	32298427	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	66245	32298427	30727093	1482	119075											
GDF5	8200	broad.mit.edu	37	chr20	34022216	34022216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcgtggacctgccgggCggcgcggtcgaagcccaggc	16	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:34022216C>T	uc002xck.1	-	2	1316	c.997G>A	c.(997-999)GCC>ACC	p.A333T	GDF5_uc010gfc.1_Missense_Mutation_p.A333T|uc002xcj.2_Silent_p.G209G|GDF5_uc010zvc.1_Missense_Mutation_p.A333T	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	333					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACCTGCCGGGCGGCGCGGTCG	0.637													T	34022216	C	T	34022216	3	4	235	1	0	0	0	0	1	0	0	0	6316	768	27	1	512	1	GDF5	20	34022216	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1723789	34022216	29003304	1483	119076											
PHF20	51230	broad.mit.edu	37	chr20	34526962	34526962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatgattccctttccccgCgcctgggctggcctctagac	11	16	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:34526962C>T	uc002xek.1	+	16	2755	c.2644C>T	c.(2644-2646)CGC>TGC	p.R882C		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					CCTTTCCCCGCGCCTGGGCTG	0.617													T	34526962	C	T	34526962	3	4	235	1	0	0	0	0	1	0	0	0	11831	768	27	1	2702	1	PHF20	20	34526962	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	504746	34526962	28498558	1484	119077											
NDRG3	57446	broad.mit.edu	37	chr20	35310930	35310930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatacttactgcaaatctGctgaggatgtaagctccagc	8	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:35310930G>A	uc002xfw.2	-	7	517	c.435C>T	c.(433-435)AGC>AGT	p.S145S	NDRG3_uc002xfx.2_Silent_p.S133S|NDRG3_uc010zvq.1_Silent_p.S50S|NDRG3_uc010zvr.1_Silent_p.S33S	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	145					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				CTGCAAATCTGCTGAGGATGT	0.458													A	35310930	G	A	35310930	2	1	235	1	0	0	0	0	0	0	0	1	10253	1310	46	2		2	NDRG3	20	35310930	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	783968	35310930	27714590	1485	119078											
TOP1	7150	broad.mit.edu	37	chr20	39728804	39728804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcctcctggacttttcCgtggccgcggcaaccacccc	10	17	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:39728804C>T	uc002xjl.2	+	12	1330	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	362					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(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TGGACTTTTCCGTGGCCGCGG	0.448			T	NUP98	AML*								T	39728804	C	T	39728804	3	4	235	1	0	0	0	0	1	0	0	0	16360	652	23	1	1130	1	TOP1	20	39728804	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4417874	39728804	23296716	1486	119079											
CHD6	84181	broad.mit.edu	37	chr20	40034022	40034022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgccacaatggaaggAgccttcaggagttcgctccg	13	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:40034022A>G	uc002xka.1	-	37	7537	c.7359T>C	c.(7357-7359)GCT>GCC	p.A2453A	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2453					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CAATGGAAGGAGCCTTCAGGA	0.542													G	40034022	A	G	40034022	2	3	235	1	0	0	0	0	0	0	0	1	3329	291	11	3		3	CHD6	20	40034022	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	305218	40034022	22991498	1487	119080											
CTSA	5476	broad.mit.edu	37	chr20	44527011	44527011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacattgctcctcagggcgcCggccacatggttcccaccga	10	16	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:44527011C>T	uc002xqj.3	+	15	1839	c.1365C>T	c.(1363-1365)GCC>GCT	p.A455A	CTSA_uc002xqh.2_Silent_p.A473A|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Silent_p.A456A|CTSA_uc002xqk.3_Silent_p.A455A	NM_001127695	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform b precursor	455					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTCAGGGCGCCGGCCACATGG	0.577													T	44527011	C	T	44527011	2	4	235	1	0	0	0	0	0	0	0	1	4029	639	23	1		1	CTSA	20	44527011	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4492989	44527011	18498509	1488	119081											
ARFGEF2	10564	broad.mit.edu	37	chr20	47630185	47630185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggttccccatcttattcGaactctcctgcatcattaat	5	13	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:47630185G>A	uc002xtx.3	+	29	4155	c.4003G>A	c.(4003-4005)GAA>AAA	p.E1335K	ARFGEF2_uc010zyf.1_Missense_Mutation_p.E628K	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1335					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATCTTATTCGAACTCTCCTG	0.458													A	47630185	G	A	47630185	3	1	235	1	0	0	0	0	1	0	0	0	853	1059	37	1	4117	1	ARFGEF2	20	47630185	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3103174	47630185	15395335	1489	119082											
PTGIS	5740	broad.mit.edu	37	chr20	48156225	48156225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatgggtgcgtggcagCgcctcaattccgtaaagagt	12	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:48156225C>T	uc002xut.2	-	5	609	c.555G>A	c.(553-555)GCG>GCA	p.A185A	PTGIS_uc010zyi.1_Silent_p.A46A	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	185					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			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TGCGTGGCAGCGCCTCAATTC	0.632													T	48156225	C	T	48156225	2	4	235	1	0	0	0	0	0	0	0	1	12752	755	27	1		1	PTGIS	20	48156225	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	526040	48156225	14869295	1490	119083											
ATP9A	10079	broad.mit.edu	37	chr20	50312634	50312634	+	Frame_Shift_Del	DEL	T	T	-													ttgatctcagatgtttaccgTttttttctgatgtcctcagg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:50312634delT	uc002xwg.1	-	6	545	c.545delA	c.(544-546)AACfs	p.N182fs	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	182	Cytoplasmic (Potential).				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			ovary(4)	4						ATGTTTACCGTTTTTTTCTGA	0.368													-	50312634	T	-	50312634	7	5	235	1	0	1	0	1	0	0	0	0	1198	1725	60	0	2690	0	ATP9A	20	50312634	Frame_Shift_Del	DEL	T	TCGA-F1-6177-01A-11D-1800-08	2156409	50312634	12712886	1491	119084											
MC3R	4159	broad.mit.edu	37	chr20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccggagcctggaattgCgcaacacctttagggagatt	11	10	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:54824818C>T	uc002xxb.2	+	1	1031	c.919C>T	c.(919-921)CGC>TGC	p.R307C		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	344	Cytoplasmic (Potential).				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	p.R344C(1)		ovary(2)|breast(2)	4			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517													T	54824818	C	T	54824818	3	4	235	1	0	0	0	0	1	0	0	0	9365	768	27	1	921	1	MC3R	20	54824818	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	4512184	54824818	8200702	1492	119085											
ZBP1	81030	broad.mit.edu	37	chr20	56190020	56190020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcatcctgtacaagtctCggttcacatcttttgctgtc	6	12	5	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:56190020C>T	uc002xyo.2	-	4	706	c.425G>A	c.(424-426)CGA>CAA	p.R142Q	ZBP1_uc010gjm.2_Missense_Mutation_p.R142Q|ZBP1_uc002xyp.2_Missense_Mutation_p.R67Q|ZBP1_uc010zzn.1_Missense_Mutation_p.R142Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	142	DRADA 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	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)			GTACAAGTCTCGGTTCACATC	0.552													T	56190020	C	T	56190020	3	4	235	1	0	0	0	0	1	0	0	0	17518	884	31	1	961	1	ZBP1	20	56190020	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1365202	56190020	6835500	1493	119086											
GNAS	2778	broad.mit.edu	37	chr20	57415732	57415732	+	Frame_Shift_Del	DEL	G	G	-													agccccagagccccagggaaGgggaggagctcaagcccgag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:57415732delG	uc002xzt.2	+	1	938	c.571delG	c.(571-573)GGGfs	p.G191fs	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCAGGGAAGGGGAGGAGCT	0.662			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			-	57415732	G	-	57415732	7	5	235	1	0	1	0	1	0	0	0	0	6510	1000	35	0	573	0	GNAS	20	57415732	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	1225712	57415732	5609788	1494	119087											
ZNF831	128611	broad.mit.edu	37	chr20	57767064	57767064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagccctgggatgccaaGgcccccgagggccggctgcg	17	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:57767064G>T	uc002yan.2	+	1	990	c.990G>T	c.(988-990)AAG>AAT	p.K330N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	330						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGGATGCCAAGGCCCCCGAGG	0.726													T	57767064	G	T	57767064	3	4	235	1	0	0	0	0	1	0	0	0	18182	991	35	5	992	5	ZNF831	20	57767064	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	351332	57767064	5258456	1495	119088											
LAMA5	3911	broad.mit.edu	37	chr20	60887969	60887969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccgaggtcaggggcGgtgggggctgcagtgggacg	23	8	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:60887969G>A	uc002ycq.2	-	66	9120	c.9053C>T	c.(9052-9054)CCG>CTG	p.P3018L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3018	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCAGGGGCGGTGGGGGCTG	0.672													A	60887969	G	A	60887969	3	1	235	1	0	0	0	0	1	0	0	0	8609	1116	39	1	2094	1	LAMA5	20	60887969	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3120905	60887969	2137551	1496	119089											
CABLES2	81928	broad.mit.edu	37	chr20	60966455	60966455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacgtaggccatggccacCgtcacgggctccaggctgca	12	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:60966455C>T	uc002ycv.2	-	9	1153	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	382					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCATGGCCACCGTCACGGGCT	0.632													T	60966455	C	T	60966455	2	4	235	1	0	0	0	0	0	0	0	1	2530	639	23	1		1	CABLES2	20	60966455	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	78486	60966455	2059065	1497	119090											
DIDO1	11083	broad.mit.edu	37	chr20	61511207	61511207	+	Frame_Shift_Del	DEL	G	G	-													agcggtccttccggtgctgcGgggggtggctgggaagctcc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:61511207delG	uc002ydr.1	-	16	6365	c.6101delC	c.(6100-6102)CCGfs	p.P2034fs	DIDO1_uc002yds.1_Frame_Shift_Del_p.P2034fs	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2034	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CCGGTGCTGCGGGGGGTGGCT	0.716													-	61511207	G	-	61511207	7	5	235	1	0	1	0	1	0	0	0	0	4522	1116	39	0	625	0	DIDO1	20	61511207	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	544752	61511207	1514313	1498	119091											
DIDO1	11083	broad.mit.edu	37	chr20	61513747	61513747	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actaacccaagaattatattCggacgtggtgactcaagacc	8	10	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:61513747C>T	uc002ydr.1	-	16	3825	c.3561G>A	c.(3559-3561)CCG>CCA	p.P1187P	DIDO1_uc002yds.1_Silent_p.P1187P	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1187					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GAATTATATTCGGACGTGGTG	0.398													T	61513747	C	T	61513747	2	4	235	1	0	0	0	0	0	0	0	1	4522	871	31	1		1	DIDO1	20	61513747	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2540	61513747	1511773	1499	119092											
SLC17A9	63910	broad.mit.edu	37	chr20	61595621	61595621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggttggtggcgattccGgccagtctattcagcgggtt	14	10	2	0	rs147672643	by1000genomes	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:61595621G>A	uc002yea.3	+	8	1048	c.864G>A	c.(862-864)CCG>CCA	p.P288P	SLC17A9_uc002ydz.3_Silent_p.P282P|SLC17A9_uc011aap.1_Silent_p.P308P	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	288	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						TGGCGATTCCGGCCAGTCTAT	0.612													A	61595621	G	A	61595621	2	1	235	1	0	0	0	0	0	0	0	1	14424	1103	39	1		1	SLC17A9	20	61595621	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	81874	61595621	1429899	1500	119093											
PRIC285	85441	broad.mit.edu	37	chr20	62203698	62203698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgtgagcaggtcccccCgctggaggccacccagctgc	16	15	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr20:62203698C>T	uc002yfm.2	-	2	933	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	PRIC285_uc002yfn.2_Missense_Mutation_p.R14Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	14					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGGTCCCCCCGCTGGAGGCC	0.736													T	62203698	C	T	62203698	3	4	235	1	0	0	0	0	1	0	0	0	12485	652	23	1	8007	1	PRIC285	20	62203698	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	608077	62203698	821822	1501	119094											
NCAM2	4685	broad.mit.edu	37	chr21	22656690	22656690	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagatgccaaaggacaaacaCaagaagctacagtagttttg	9	8	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:22656690C>G	uc002yld.1	+	3	556	c.307C>G	c.(307-309)CAA>GAA	p.Q103E	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.Q128E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	103	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		AGGACAAACACAAGAAGCTAC	0.323													G	22656690	C	G	22656690	3	3	235	1	0	0	0	0	1	0	0	0	10203	479	17	5	317	5	NCAM2	21	22656690	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		22656690	25473205	1502	119095											
ADAMTS1	9510	broad.mit.edu	37	chr21	28216622	28216622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctcgccctcagtcccttCgtcctcgtcttcggtctccg	8	19	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:28216622C>T	uc002ymf.2	-	1	1107	c.652G>A	c.(652-654)GAA>AAA	p.E218K		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	218					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TCAGTCCCTTCGTCCTCGTCT	0.677											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28216622	C	T	28216622	3	4	235	1	0	0	0	0	1	0	0	0	255	893	31	1	2287	1	ADAMTS1	21	28216622	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	5559932	28216622	19913273	1503	119096											
DNAJC28	54943	broad.mit.edu	37	chr21	34861110	34861110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaacgttctatagcttgCgttatcttttgctgtttgct	7	8	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:34861110C>T	uc002yrv.2	-	2	1040	c.591G>A	c.(589-591)ACG>ACA	p.T197T	DNAJC28_uc002yrw.2_Silent_p.T197T	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	197							heat shock protein binding				0						CTATAGCTTGCGTTATCTTTT	0.358													T	34861110	C	T	34861110	2	4	235	1	0	0	0	0	0	0	0	1	4646	755	27	1		1	DNAJC28	21	34861110	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	6644488	34861110	13268785	1504	119097											
MORC3	23515	broad.mit.edu	37	chr21	37741742	37741742	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataaatctgcagatgatgcAggctgccaattacaagaact	9	8	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:37741742A>G	uc002yvi.2	+	15	2152	c.2076A>G	c.(2074-2076)GCA>GCG	p.A692A		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	692	Potential.				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			ovary(2)	2						CAGATGATGCAGGCTGCCAAT	0.403													G	37741742	A	G	37741742	2	3	235	1	0	0	0	0	0	0	0	1	9703	175	7	3		3	MORC3	21	37741742	Silent	SNP	A	TCGA-F1-6177-01A-11D-1800-08	2880632	37741742	10388153	1505	119098											
CLDN14	23562	broad.mit.edu	37	chr21	37833534	37833534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctcaaacttcatgccgcTgggcagcagcgggttgtaga	12	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:37833534T>C	uc002yvk.1	-	2	602	c.460A>G	c.(460-462)AGC>GGC	p.S154G	CLDN14_uc002yvn.1_Missense_Mutation_p.S154G|CLDN14_uc002yvo.1_Missense_Mutation_p.S154G|CLDN14_uc002yvl.1_Missense_Mutation_p.S154G|CLDN14_uc002yvm.1_Missense_Mutation_p.S154G	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	154	Extracellular (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TTCATGCCGCTGGGCAGCAGC	0.627													C	37833534	T	C	37833534	3	2	235	1	0	0	0	0	1	0	0	0	3475	1580	55	3	263	3	CLDN14	21	37833534	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	91792	37833534	10296361	1506	119099											
CLDN14	23562	broad.mit.edu	37	chr21	37833611	37833611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccatgcacaggaggccgGccaggatgaagagggtgccg	16	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:37833611G>A	uc002yvk.1	-	2	525	c.383C>T	c.(382-384)GCC>GTC	p.A128V	CLDN14_uc002yvn.1_Missense_Mutation_p.A128V|CLDN14_uc002yvo.1_Missense_Mutation_p.A128V|CLDN14_uc002yvl.1_Missense_Mutation_p.A128V|CLDN14_uc002yvm.1_Missense_Mutation_p.A128V	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	128	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CAGGAGGCCGGCCAGGATGAA	0.642													A	37833611	G	A	37833611	3	1	235	1	0	0	0	0	1	0	0	0	3475	1203	42	2	340	2	CLDN14	21	37833611	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	77	37833611	10296284	1507	119100											
ERG	2078	broad.mit.edu	37	chr21	39772564	39772564	+	Frame_Shift_Del	DEL	C	C	-													ttgggaaaataaaagctgcaCcccctgcagacaaaaggaaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:39772564delC	uc010gnw.2	-	8	993	c.698delG	c.(697-699)GGTfs	p.G233fs	ERG_uc002yxa.2_Frame_Shift_Del_p.G226fs|ERG_uc011aek.1_Frame_Shift_Del_p.G134fs|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Intron|ERG_uc011ael.1_Frame_Shift_Del_p.G233fs|ERG_uc002yxb.2_Intron|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Frame_Shift_Del_p.G233fs|ERG_uc010gny.1_Intron	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	233					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AAAAGCTGCACCCCCTGCAGA	0.418													-	39772564	C	-	39772564	7	5	235	1	0	1	0	1	0	0	0	0	5222	507	18	0	782	0	ERG	21	39772564	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1938953	39772564	8357331	1508	119101											
ETS2	2114	broad.mit.edu	37	chr21	40186201	40186201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtttccttccagactcCgccaactgtgaattgccttt	10	12	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:40186201C>T	uc002yxg.2	+	4	385	c.189C>T	c.(187-189)TCC>TCT	p.S63S	ETS2_uc002yxf.2_Silent_p.S203S	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	63					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCAGACTCCGCCAACTGTG	0.473													T	40186201	C	T	40186201	2	4	235	1	0	0	0	0	0	0	0	1	5276	639	23	1		1	ETS2	21	40186201	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	413637	40186201	7943694	1509	119102											
BRWD1	54014	broad.mit.edu	37	chr21	40570895	40570896	+	Frame_Shift_Ins	INS	-	-	T													tgagtcactcagaatcttggINStttttttaaagaaactcgca							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:40570895_40570896insT	uc002yxk.1	-	40	5585_5586	c.5446_5447insA	c.(5446-5448)ACCfs	p.T1816fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.T459fs|BRWD1_uc002yxl.2_Frame_Shift_Ins_p.T1816fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAAG	0.386													T	40570896	-	T	40570895	7	5	235	1	0	1	1	0	0	0	0	0	1525	1261	44	0	1766	0	BRWD1	21	40570895	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	384694	40570895	7559000	1510	119103	606	2									
BRWD1	54014	broad.mit.edu	37	chr21	40570896	40570897	+	Frame_Shift_Ins	INS	-	-	T													gagtcactcagaatcttggtINSttttttaaagaaactcgcat							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:40570895_40570896G>GT	uc002yxk.2	-	39	5741_5742	c.5446_5447C>AC	c.(5446-5448)accfs	p.T1816fs	BRWD1_uc010goc.1_Frame_Shift_Ins_p.T459fs|BRWD1_uc021wjf.1_Frame_Shift_Ins_p.T1816fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T1816N(3)		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)				CAGAATCTTGGTTTTTTTAAAG	0.386													T	40570897	-	T	40570896	7	5	235	1	0	1	1	0	0	0	0	0	1525	1725	60	0	1767	0	BRWD1	21	40570896	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	40570896	7558999	1511	119104	606	2									
PRDM15	63977	broad.mit.edu	37	chr21	43231123	43231123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctgtgtggatgagcTtgtgggtctccatggtgttc	14	9	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:43231123T>C	uc002yzq.1	-	27	3671	c.3560A>G	c.(3559-3561)AAG>AGG	p.K1187R	PRDM15_uc002yzo.2_Missense_Mutation_p.K858R|PRDM15_uc002yzp.2_Missense_Mutation_p.K878R|PRDM15_uc002yzr.1_Missense_Mutation_p.K878R	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1187	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGGATGAGCTTGTGGGTCTC	0.577													C	43231123	T	C	43231123	3	2	235	1	0	0	0	0	1	0	0	0	12456	1609	56	3	983	3	PRDM15	21	43231123	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	2660227	43231123	4898772	1512	119105											
ZNF295	49854	broad.mit.edu	37	chr21	43411609	43411609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggaaagactaaggtcttCgggaagacaagaggaatctt	12	6	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:43411609C>T	uc002zab.3	-	3	2810	c.2596G>A	c.(2596-2598)GAA>AAA	p.E866K	ZNF295_uc002yzz.3_Missense_Mutation_p.E665K|ZNF295_uc002yzy.3_Missense_Mutation_p.E866K|ZNF295_uc002zaa.3_Missense_Mutation_p.E866K	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	866					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTAAGGTCTTCGGGAAGACAA	0.483													T	43411609	C	T	43411609	3	4	235	1	0	0	0	0	1	0	0	0	17824	893	31	1	608	1	ZNF295	21	43411609	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	180486	43411609	4718286	1513	119106											
LRRC3	81543	broad.mit.edu	37	chr21	45877042	45877042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtggacgagatcgcctGccacacctcagtgcaggagg	13	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:45877042G>A	uc002zfa.2	+	2	808	c.515G>A	c.(514-516)TGC>TAC	p.C172Y		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	172						integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GAGATCGCCTGCCACACCTCA	0.647													A	45877042	G	A	45877042	3	1	235	1	0	0	0	0	1	0	0	0	8984	1319	46	2	517	2	LRRC3	21	45877042	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2465433	45877042	2252853	1514	119107											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047173	46047173	+	Frame_Shift_Del	DEL	C	C	-													gcccagagagctgctgtgagCccccctgctgcgccaccagc							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:46047173delC	uc002zfp.3	+	1	134	c.85delC	c.(85-87)CCCfs	p.P29fs	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	29	1.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CTGCTGTGAGCCCCCCTGCTG	0.697													-	46047173	C	-	46047173	7	5	235	1	0	1	0	1	0	0	0	0	8516	739	26	0	87	0	KRTAP10-9	21	46047173	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	170131	46047173	2082722	1515	119108											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117692	46117692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctgctgcagaccctcCtcctccgtgtccctcctctg	6	21	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:46117692C>T	uc002zfw.1	+	1	606	c.576C>T	c.(574-576)TCC>TCT	p.S192S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	keratin associated protein 10-12	192	18.|19 X 5 AA repeats of C-C-X(3).					keratin filament					0						GCAGACCCTCCTCCTCCGTGT	0.687													T	46117692	C	T	46117692	2	4	235	1	0	0	0	0	0	0	0	1	8508	668	24	4		4	KRTAP10-12	21	46117692	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	70519	46117692	2012203	1516	119109											
SUMO3	6612	broad.mit.edu	37	chr21	46233931	46233931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagcttgctcagcggcGtgtgcctcttgatcttgaac	10	12	5	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:46233931G>A	uc002zfz.1	-	2	271	c.110C>T	c.(109-111)ACG>ATG	p.T37M	SUMO3_uc011afi.1_Missense_Mutation_p.T37M|SUMO3_uc002zga.1_Missense_Mutation_p.T37M	NM_006936	NP_008867	P55854	SUMO3_HUMAN	small ubiquitin-like modifier protein 3	37	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding				0				Colorectal(79;0.058)		GCTCAGCGGCGTGTGCCTCTT	0.617													A	46233931	G	A	46233931	3	1	235	1	0	0	0	0	1	0	0	0	15386	1145	40	1	213	1	SUMO3	21	46233931	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	116239	46233931	1895964	1517	119110											
COL6A2	1292	broad.mit.edu	37	chr21	47552299	47552299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgagtcggcgcactccatgCgcaagcagaacgtggtaccc	12	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47552299C>T	uc002zia.1	+	28	2975	c.2893C>T	c.(2893-2895)CGC>TGC	p.R965C	COL6A2_uc002zib.1_Missense_Mutation_p.R371C|COL6A2_uc002zic.1_Silent_p.C39C|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	965	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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCACTCCATGCGCAAGCAGAA	0.687													T	47552299	C	T	47552299	3	4	235	1	0	0	0	0	1	0	0	0	3700	768	27	1	3329	1	COL6A2	21	47552299	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1318368	47552299	577596	1518	119111											
MCM3AP	8888	broad.mit.edu	37	chr21	47663638	47663638	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacggggagccagggggcTggggagaaagtgcctcatta	17	9	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47663638T>C	uc002zir.1	-	24	5075	c.5039_splice	c.e24-1	p.A1680_splice	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Splice_Site_p.A175_splice|MCM3AP_uc002zip.1_Splice_Site_p.A421_splice|MCM3AP_uc002ziq.1_Splice_Site_p.A607_splice|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3						DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					GCCAGGGGGCTGGGGAGAAAG	0.532													C	47663638	T	C	47663638	5	2	235	1	0	0	0	0	0	0	1	0	9388	1594	55	3	925	3	MCM3AP	21	47663638	Splice_Site	SNP	T	TCGA-F1-6177-01A-11D-1800-08	111339	47663638	466257	1519	119112											
MCM3AP	8888	broad.mit.edu	37	chr21	47686064	47686064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttccaggaatgcagaccGgttcagctccacacagctac	10	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47686064G>A	uc002zir.1	-	11	2842	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	936					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AATGCAGACCGGTTCAGCTCC	0.562													A	47686064	G	A	47686064	3	1	235	1	0	0	0	0	1	0	0	0	9388	1115	39	1	3208	1	MCM3AP	21	47686064	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	22426	47686064	443831	1520	119113											
PCNT	5116	broad.mit.edu	37	chr21	47841990	47841990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctggaaggtttcagccGctgccggaagccatgaagga	13	10	2	1	rs142266651		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47841990G>A	uc002zji.3	+	32	7238	c.7131G>A	c.(7129-7131)CCG>CCA	p.P2377P	PCNT_uc002zjj.2_Silent_p.P2259P	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2377					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGTTTCAGCCGCTGCCGGAAG	0.622													A	47841990	G	A	47841990	2	1	235	1	0	0	0	0	0	0	0	1	11590	1074	38	1		1	PCNT	21	47841990	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	155926	47841990	287905	1521	119114											
DIP2A	23181	broad.mit.edu	37	chr21	47924285	47924286	+	Frame_Shift_Ins	INS	-	-	C													aaaagcagatctgcattctgINScccctcctgatgtcaccacg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47924285_47924286insC	uc002zjo.2	+	6	850_851	c.667_668insC	c.(667-669)GCCfs	p.A223fs	DIP2A_uc011afy.1_Frame_Shift_Ins_p.A159fs|DIP2A_uc011afz.1_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjl.2_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjm.2_Frame_Shift_Ins_p.A223fs|DIP2A_uc010gql.2_Intron|DIP2A_uc002zjn.2_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjp.1_5'UTR	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	223					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		TCTGCATTCTGCCCCTCCTGAT	0.505													C	47924286	-	C	47924285	7	5	235	1	0	1	1	0	0	0	0	0	4527	1319	46	0	689	0	DIP2A	21	47924285	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	82295	47924285	205610	1522	119115	607	2									
DIP2A	23181	broad.mit.edu	37	chr21	47924286	47924287	+	Frame_Shift_Ins	INS	-	-	C													aaagcagatctgcattctgcINSccctcctgatgtcaccacgg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:47924285_47924286G>GC	uc002zjo.2	+	5	850_851	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	DIP2A_uc011afy.1_Frame_Shift_Ins_p.A159fs|DIP2A_uc011afz.1_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjl.3_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjm.3_Frame_Shift_Ins_p.A223fs|DIP2A_uc010gql.3_Intron|DIP2A_uc002zjn.3_Frame_Shift_Ins_p.A223fs|DIP2A_uc002zjp.1_5'UTR	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	223					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)		TCTGCATTCTGCCCCTCCTGAT	0.505													C	47924287	-	C	47924286	7	5	235	1	0	1	1	0	0	0	0	0	4527	739	26	0	690	0	DIP2A	21	47924286	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	47924286	205609	1523	119116	607	2									
PRMT2	3275	broad.mit.edu	37	chr21	48083456	48083456	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacttccagacaagaccccaCatctcaaaaagtaagatacg	5	13	1	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr21:48083456C>G	uc002zjx.2	+	11	1573	c.1259C>G	c.(1258-1260)ACA>AGA	p.T420R	PRMT2_uc002zjy.2_Missense_Mutation_p.T420R|PRMT2_uc010gqm.2_Missense_Mutation_p.T318R|PRMT2_uc011aga.1_Missense_Mutation_p.H272Q|PRMT2_uc011agb.1_Intron|PRMT2_uc011agc.1_Intron	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	420					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			ovary(1)	1	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)		CAAGACCCCACATCTCAAAAA	0.547													G	48083456	C	G	48083456	3	3	235	1	0	0	0	0	1	0	0	0	12537	478	17	5	1293	5	PRMT2	21	48083456	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	159170	48083456	46439	1524	119117											
POTEH	23784	broad.mit.edu	37	chr22	16267071	16267071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcccatatgagtacttcCgtgcttcttcatttcttctt	5	11	4	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:16267071C>T	uc010gqp.2	-	9	1430	c.1378G>A	c.(1378-1380)GGA>AGA	p.G460R	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.G179R|POTEH_uc002zlj.1_Missense_Mutation_p.G295R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	460										skin(1)	1						TGAGTACTTCCGTGCTTCTTC	0.363													T	16267071	C	T	16267071	3	4	235	1	0	0	0	0	1	0	0	0	12267	661	23	1	267	1	POTEH	22	16267071	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08		16267071	35037495	1525	119118											
MICAL3	57553	broad.mit.edu	37	chr22	18379717	18379717	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggtccacgttttctcGggaaagcaggagctctgtgt	12	11	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:18379717G>A	uc002zng.3	-	8	1332	c.979C>T	c.(979-981)CGA>TGA	p.R327*	MICAL3_uc011agl.1_Nonsense_Mutation_p.R327*|MICAL3_uc002znh.2_Nonsense_Mutation_p.R327*|MICAL3_uc002znj.1_Nonsense_Mutation_p.R27*|MICAL3_uc002znk.1_Nonsense_Mutation_p.R327*|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Nonsense_Mutation_p.R327*	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	327						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		ACGTTTTCTCGGGAAAGCAGG	0.562											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18379717	G	A	18379717	4	1	235	1	0	0	0	0	0	1	0	0	9571	1124	39	1	5866	1	MICAL3	22	18379717	Nonsense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2112646	18379717	32924849	1526	119119											
MRPL40	64976	broad.mit.edu	37	chr22	19420868	19420868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgggaactcattcccaTgaggtaaaactcaatcgagg	9	9	3	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:19420868T>C	uc002zpg.2	+	2	176	c.134T>C	c.(133-135)ATG>ACG	p.M45T	HIRA_uc002zpf.1_5'Flank|HIRA_uc011agx.1_5'Flank|HIRA_uc010grn.1_5'Flank|HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.M1T	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40 precursor	45					anatomical structure morphogenesis	mitochondrial ribosome|nucleus					0	Colorectal(54;0.0993)					CTCATTCCCATGAGGTAAAAC	0.468													C	19420868	T	C	19420868	3	2	235	1	0	0	0	0	1	0	0	0	9804	1464	51	3	140	3	MRPL40	22	19420868	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	1041151	19420868	31883698	1527	119120											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130311	20130311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattccctgaccctgggggaCgacagcatccgtagcctgga	13	13	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:20130311C>T	uc002zrq.2	+	10	1264	c.1158C>T	c.(1156-1158)GAC>GAT	p.D386D	ZDHHC8_uc002zrr.1_Silent_p.D386D|ZDHHC8_uc010gsa.2_Silent_p.D192D	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	386	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CCCTGGGGGACGACAGCATCC	0.667													T	20130311	C	T	20130311	2	4	235	1	0	0	0	0	0	0	0	1	17618	535	19	1		1	ZDHHC8	22	20130311	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	709443	20130311	31174255	1528	119121											
MED15	51586	broad.mit.edu	37	chr22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-													ccccgcagtcgatgccccctCccccccagccgtccccgcag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:20936976delC	uc002zsp.2	+	10	1431	c.1351delC	c.(1351-1353)CCCfs	p.P451fs	MED15_uc002zsq.2_Frame_Shift_Del_p.P411fs|MED15_uc010gso.2_Frame_Shift_Del_p.P394fs|MED15_uc002zsr.2_Frame_Shift_Del_p.P385fs|MED15_uc011ahs.1_Frame_Shift_Del_p.P385fs|MED15_uc002zss.2_Frame_Shift_Del_p.P330fs|MED15_uc011ahu.1_Frame_Shift_Del_p.P161fs|MED15_uc002zst.2_Frame_Shift_Del_p.P67fs|MED15_uc002zsu.2_Frame_Shift_Del_p.P56fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	451	Pro-rich.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			GATGCCCCCTCCCCCCCAGCC	0.726													-	20936976	C	-	20936976	7	5	235	1	0	1	0	1	0	0	0	0	9433	855	30	0	1389	0	MED15	22	20936976	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	806665	20936976	30367590	1529	119122											
MED15	51586	broad.mit.edu	37	chr22	20940112	20940112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaccggcagtggcagtaCggtaggtagacccagaggag	16	8	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:20940112C>T	uc002zsp.2	+	17	2309	c.2229C>T	c.(2227-2229)TAC>TAT	p.Y743Y	MED15_uc002zsq.2_Silent_p.Y703Y|MED15_uc010gso.2_Silent_p.Y686Y|MED15_uc002zsr.2_Silent_p.Y677Y|MED15_uc011ahs.1_Silent_p.Y677Y|MED15_uc002zss.2_Silent_p.Y622Y|MED15_uc011ahu.1_Silent_p.Y453Y|MED15_uc002zst.2_Silent_p.Y359Y|MED15_uc002zsu.2_Silent_p.Y348Y	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	743					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			AGTGGCAGTACGGTAGGTAGA	0.607													T	20940112	C	T	20940112	2	4	235	1	0	0	0	0	0	0	0	1	9433	550	19	1		1	MED15	22	20940112	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3136	20940112	30364454	1530	119123											
SNAP29	9342	broad.mit.edu	37	chr22	21224675	21224675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacagagaagatggtggaCaagatggaccaagatttgaa	13	6	0	5			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:21224675C>T	uc011ahw.1	+	2	395	c.288C>T	c.(286-288)GAC>GAT	p.D96D		NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	96	Potential.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			AGATGGTGGACAAGATGGACC	0.512													T	21224675	C	T	21224675	2	4	235	1	0	0	0	0	0	0	0	1	14831	477	17	4		4	SNAP29	22	21224675	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	284563	21224675	30079891	1531	119124											
SLC7A4	6545	broad.mit.edu	37	chr22	21385285	21385285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatggcaagcgagatggCgatggccagaggcacagacc	15	10	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:21385285C>T	uc002zud.2	-	2	885	c.817G>A	c.(817-819)GCC>ACC	p.A273T	SLC7A4_uc002zue.2_Missense_Mutation_p.A273T	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	273	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCGAGATGGCGATGGCCAGA	0.632													T	21385285	C	T	21385285	3	4	235	1	0	0	0	0	1	0	0	0	14699	768	27	1	1106	1	SLC7A4	22	21385285	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	160610	21385285	29919281	1532	119125											
MAPK1	5594	broad.mit.edu	37	chr22	22160224	22160224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatggatatattttaacCctctgaggatctggtagaga	10	6	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:22160224C>T	uc002zvn.2	-	3	647	c.407G>A	c.(406-408)GGG>GAG	p.G136E	MAPK1_uc002zvo.2_Missense_Mutation_p.G136E|MAPK1_uc010gtk.1_Missense_Mutation_p.G136E	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	136	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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	ATATTTTAACCCTCTGAGGAT	0.448													T	22160224	C	T	22160224	3	4	235	1	0	0	0	0	1	0	0	0	9271	623	22	4	699	4	MAPK1	22	22160224	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	774939	22160224	29144342	1533	119126											
SMARCB1	6598	broad.mit.edu	37	chr22	24145518	24145518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgtgatccatgagaaCgcatctcagcccgaggtgct	11	13	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:24145518C>T	uc002zyb.2	+	5	744	c.537C>T	c.(535-537)AAC>AAT	p.N179N	SMARCB1_uc002zya.2_Silent_p.N179N|SMARCB1_uc002zyc.2_Silent_p.N170N|SMARCB1_uc002zyd.2_Silent_p.N188N|SMARCB1_uc002zye.1_Silent_p.N105N|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_RNA	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	179	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCCATGAGAACGCATCTCAGC	0.552			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				T	24145518	C	T	24145518	2	4	235	1	0	0	0	0	0	0	0	1	14774	535	19	1		1	SMARCB1	22	24145518	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1985294	24145518	27159048	1534	119127											
TFIP11	24144	broad.mit.edu	37	chr22	26892177	26892177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctggacagcttactacGgatgggggaatagagtggct	17	7	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:26892177G>A	uc003acr.2	-	11	2085	c.1711C>T	c.(1711-1713)CGT>TGT	p.R571C	TFIP11_uc003acq.2_5'Flank|TFIP11_uc003acs.2_Missense_Mutation_p.R571C|TFIP11_uc003act.2_Missense_Mutation_p.R571C	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	571					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCTTACTACGGATGGGGGAA	0.597													A	26892177	G	A	26892177	3	1	235	1	0	0	0	0	1	0	0	0	15804	1116	39	1	818	1	TFIP11	22	26892177	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2746659	26892177	24412389	1535	119128											
MN1	4330	broad.mit.edu	37	chr22	28193255	28193255	+	Frame_Shift_Del	DEL	C	C	-													gggcgccttcggtccgtgttCcccggcgcctaccccacggg							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:28193255delC	uc003adj.2	-	1	4232	c.3277delG	c.(3277-3279)GAAfs	p.E1093fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1093							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGTCCGTGTTCCCCGGCGCCT	0.697			T	ETV6	AML|meningioma								-	28193255	C	-	28193255	7	5	235	1	0	1	0	1	0	0	0	0	9673	864	30	0	693	0	MN1	22	28193255	Frame_Shift_Del	DEL	C	TCGA-F1-6177-01A-11D-1800-08	1301078	28193255	23111311	1536	119129											
EWSR1	2130	broad.mit.edu	37	chr22	29668385	29668385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctacagtgcttacaccGcccagcccactcaaggatat	8	15	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:29668385G>A	uc003aet.2	+	3	395	c.67G>A	c.(67-69)GCC>ACC	p.A23T	EWSR1_uc003aes.3_Missense_Mutation_p.A23T|EWSR1_uc003aev.2_Missense_Mutation_p.A23T|EWSR1_uc003aew.2_Missense_Mutation_p.A23T|EWSR1_uc003aex.2_Missense_Mutation_p.A23T	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	23	EAD (Gln/Pro/Thr-rich).|2.|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						TGCTTACACCGCCCAGCCCAC	0.368			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								A	29668385	G	A	29668385	3	1	235	1	0	0	0	0	1	0	0	0	5296	1087	38	1	77	1	EWSR1	22	29668385	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1475130	29668385	21636181	1537	119130											
PISD	23761	broad.mit.edu	37	chr22	32015765	32015765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctattggtgtgcgtcaCgaagctgaagtcattgtagg	12	8	3	1	rs61747365		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:32015765C>T	uc003alm.3	-	8	1070	c.1063G>A	c.(1063-1065)GTG>ATG	p.V355M	PISD_uc003alk.2_Missense_Mutation_p.V321M|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Missense_Mutation_p.V320M|PISD_uc003aln.3_Missense_Mutation_p.V317M	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	355					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	GTGTGCGTCACGAAGCTGAAG	0.612													T	32015765	C	T	32015765	3	4	235	1	0	0	0	0	1	0	0	0	11946	536	19	1	170	1	PISD	22	32015765	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2347380	32015765	19288801	1538	119131											
SLC5A1	6523	broad.mit.edu	37	chr22	32462978	32462978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccactttgtggggctggcCgggactggggcagcttcagg	19	10	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:32462978C>T	uc003amc.2	+	3	496	c.264C>T	c.(262-264)GCC>GCT	p.A88A	SLC5A1_uc011alz.1_5'UTR	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	88	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TGGGGCTGGCCGGGACTGGGG	0.557													T	32462978	C	T	32462978	2	4	235	1	0	0	0	0	0	0	0	1	14661	639	23	1		1	SLC5A1	22	32462978	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	447213	32462978	18841588	1539	119132											
RBM9	23543	broad.mit.edu	37	chr22	36205885	36205885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctccccgtgggcttgcGtacttccgtagagtgtcagg	13	12	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:36205885G>A	uc003aon.3	-	3	516	c.404C>T	c.(403-405)ACG>ATG	p.T135M	RBM9_uc003aog.3_Missense_Mutation_p.T45M|RBM9_uc003aol.3_Missense_Mutation_p.T65M|RBM9_uc003aoj.3_Missense_Mutation_p.T65M|RBM9_uc003aok.3_Missense_Mutation_p.T65M|RBM9_uc003aoh.3_Missense_Mutation_p.T65M|RBM9_uc003aom.3_Missense_Mutation_p.T65M|RBM9_uc010gwu.2_Missense_Mutation_p.T45M|RBM9_uc003aoo.3_Missense_Mutation_p.T135M|RBM9_uc003aop.3_Missense_Mutation_p.T65M	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	RNA binding motif protein 9 isoform 5	75					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding				0						GTGGGCTTGCGTACTTCCGTA	0.542													A	36205885	G	A	36205885	3	1	235	1	0	0	0	0	1	0	0	0	13147	1145	40	1	1009	1	RBM9	22	36205885	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	3742907	36205885	15098681	1540	119133											
IL2RB	3560	broad.mit.edu	37	chr22	37533717	37533717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagatttcccagcttatGttgcatctgtgggtctccac	11	10	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:37533717G>A	uc003aqv.1	-	6	578	c.447C>T	c.(445-447)AAC>AAT	p.N149N		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	149	Extracellular (Potential).|Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCCAGCTTATGTTGCATCTGT	0.532													A	37533717	G	A	37533717	2	1	235	1	0	0	0	0	0	0	0	1	7687	1368	48	4		4	IL2RB	22	37533717	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1327832	37533717	13770849	1541	119134											
CARD10	29775	broad.mit.edu	37	chr22	37912253	37912253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcgagcttcccgcagCcgtcgcacctctgtcatcaa	8	17	4	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:37912253C>T	uc003asx.1	-	3	429	c.426G>A	c.(424-426)CGG>CGA	p.R142R	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Silent_p.R142R	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	142	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CTTCCCGCAGCCGTCGCACCT	0.652													T	37912253	C	T	37912253	2	4	235	1	0	0	0	0	0	0	0	1	2644	726	26	2		2	CARD10	22	37912253	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	378536	37912253	13392313	1542	119135											
SH3BP1	23616	broad.mit.edu	37	chr22	38042889	38042890	+	Frame_Shift_Ins	INS	-	-	C													aagcagacaatggcctcggaINScccccacagcctggaggagt							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:38042889_38042890insC	uc003ati.2	+	11	1100_1101	c.989_990insC	c.(988-990)GACfs	p.D330fs	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Frame_Shift_Ins_p.D330fs|SH3BP1_uc003ath.1_Frame_Shift_Ins_p.D330fs|SH3BP1_uc003atj.1_Frame_Shift_Ins_p.D266fs|SH3BP1_uc003atk.1_Frame_Shift_Ins_p.D244fs|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	330	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ATGGCCTCGGACCCCCACAGCC	0.678													C	38042890	-	C	38042889	7	5	235	1	0	1	1	0	0	0	0	0	14244	275	10	0	1031	0	SH3BP1	22	38042889	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	130636	38042889	13261677	1543	119136											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38484757	38484757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaggctcccactcacgcGgacgagccctccagcttgcc	9	19	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:38484757G>A	uc003auw.2	-	10	1260	c.1116C>T	c.(1114-1116)TCC>TCT	p.S372S	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	372	SH3.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					CCACTCACGCGGACGAGCCCT	0.701													A	38484757	G	A	38484757	2	1	235	1	0	0	0	0	0	0	0	1	1303	1103	39	1		1	BAIAP2L2	22	38484757	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	441868	38484757	12819809	1544	119137											
SUN2	25777	broad.mit.edu	37	chr22	39135931	39135931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaactgactgatccaggcCgggaactgagattccaccta	11	11	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:39135931C>T	uc003awh.1	-	14	1658	c.1374G>A	c.(1372-1374)CCG>CCA	p.P458P	SUN2_uc011anz.1_Silent_p.P493P|SUN2_uc011aoa.1_Silent_p.P447P|SUN2_uc003awi.1_Silent_p.P458P|SUN2_uc010gxq.1_Silent_p.P479P|SUN2_uc010gxr.1_Silent_p.P458P|SUN2_uc010gxs.1_Silent_p.P458P	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	458	Perinuclear space.				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			large_intestine(1)|skin(1)	2						TGATCCAGGCCGGGAACTGAG	0.607													T	39135931	C	T	39135931	2	4	235	1	0	0	0	0	0	0	0	1	15389	639	23	1		1	SUN2	22	39135931	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	651174	39135931	12168635	1545	119138											
TAB1	10454	broad.mit.edu	37	chr22	39817833	39817833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccactctctccccatagcGctgccaagtccaaaccaatc	4	18	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:39817833G>A	uc003axt.2	+	8	827	c.778G>A	c.(778-780)GCT>ACT	p.A260T	TAB1_uc003axr.2_Missense_Mutation_p.A336T|TAB1_uc011aok.1_Missense_Mutation_p.A94T|TAB1_uc003axu.1_Missense_Mutation_p.A260T	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	260	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)	1						TCCCCATAGCGCTGCCAAGTC	0.547													A	39817833	G	A	39817833	3	1	235	1	0	0	0	0	1	0	0	0	15492	1101	38	1	808	1	TAB1	22	39817833	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	681902	39817833	11486733	1546	119139											
MCHR1	2847	broad.mit.edu	37	chr22	41077720	41077720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccagttgtccatcagcCgcccgaccctcacctttgtc	7	18	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:41077720C>T	uc003ayz.2	+	2	1325	c.1057C>T	c.(1057-1059)CGC>TGC	p.R353C	MCHR1_uc003aza.2_Missense_Mutation_p.R242C|uc003azb.1_RNA	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	353	Extracellular (Potential).				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				0						GTCCATCAGCCGCCCGACCCT	0.552													T	41077720	C	T	41077720	3	4	235	1	0	0	0	0	1	0	0	0	9382	652	23	1	1063	1	MCHR1	22	41077720	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1259887	41077720	10226846	1547	119140											
CYP2D6	1565	broad.mit.edu	37	chr22	42523877	42523877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtaggatcatgagcaggaGgccccaggccagcgtggtcg	16	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:42523877G>T	uc003bce.2	-	6	1042	c.952C>A	c.(952-954)CTC>ATC	p.L318I	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.L12I|CYP2D6_uc003bcf.2_Missense_Mutation_p.L267I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	318							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			breast(1)|skin(1)	2						ATGAGCAGGAGGCCCCAGGCC	0.607													T	42523877	G	T	42523877	3	4	235	1	0	0	0	0	1	0	0	0	4169	1000	35	5	557	5	CYP2D6	22	42523877	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1446157	42523877	8780689	1548	119141											
FAM118A	55007	broad.mit.edu	37	chr22	45719294	45719294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcgcccatgatctgatcCggaagatgtcacctgtaagt	10	10	2	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:45719294C>T	uc003bfz.3	+	4	902	c.286C>T	c.(286-288)CGG>TGG	p.R96W	FAM118A_uc003bga.3_Missense_Mutation_p.R96W	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	96						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGATCTGATCCGGAAGATGTC	0.547													T	45719294	C	T	45719294	3	4	235	1	0	0	0	0	1	0	0	0	5411	643	23	1	292	1	FAM118A	22	45719294	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3195417	45719294	5585272	1549	119142											
FBLN1	2192	broad.mit.edu	37	chr22	45996196	45996196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccgcaggtgtcgtgcGccaggtgcggcccatcgtgg	15	14	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:45996196G>A	uc003bgj.1	+	17	2129	c.1982G>A	c.(1981-1983)CGC>CAC	p.R661H	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	661					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGTCGTGCGCCAGGTGCGG	0.542													A	45996196	G	A	45996196	3	1	235	1	0	0	0	0	1	0	0	0	5698	1087	38	1	2528	1	FBLN1	22	45996196	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	276902	45996196	5308370	1550	119143											
CELSR1	9620	broad.mit.edu	37	chr22	46930415	46930415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtgcattgtcattggCatcgaggatgaggatctcta	14	7	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:46930415C>T	uc003bhw.1	-	1	2653	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	885	Extracellular (Potential).|Cadherin 6.				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		TTGTCATTGGCATCGAGGATG	0.562													T	46930415	C	T	46930415	3	4	235	1	0	0	0	0	1	0	0	0	3221	710	25	2	6531	2	CELSR1	22	46930415	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	934219	46930415	4374151	1551	119144											
CELSR1	9620	broad.mit.edu	37	chr22	46931760	46931760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggcactgagcgggccCggattgcgcccctggtcgtt	16	14	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:46931760C>T	uc003bhw.1	-	1	1308	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	436	Extracellular (Potential).|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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		TGAGCGGGCCCGGATTGCGCC	0.672													T	46931760	C	T	46931760	2	4	235	1	0	0	0	0	0	0	0	1	3221	639	23	1		1	CELSR1	22	46931760	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	1345	46931760	4372806	1552	119145											
BRD1	23774	broad.mit.edu	37	chr22	50169305	50169306	+	Frame_Shift_Ins	INS	-	-	C													agacttggtctgcatgtgctINSccccaatcttcagcacgtcc					rs145188239		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:50169305_50169306insC	uc003biv.2	-	11	3413_3414	c.2926_2927insG	c.(2926-2928)GAGfs	p.E976fs	BRD1_uc011arf.1_Frame_Shift_Ins_p.E702fs|BRD1_uc011arg.1_Frame_Shift_Ins_p.E1025fs|BRD1_uc011arh.1_Frame_Shift_Ins_p.E976fs|BRD1_uc003biu.3_Frame_Shift_Ins_p.E1107fs	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	976	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGCATGTGCTCCCCAATCTTC	0.569													C	50169306	-	C	50169305	7	5	235	1	0	1	1	0	0	0	0	0	1501	1551	54	0	257	0	BRD1	22	50169305	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	3237545	50169305	1135261	1553	119146	608	2									
BRD1	23774	broad.mit.edu	37	chr22	50169306	50169307	+	Frame_Shift_Ins	INS	-	-	C													gacttggtctgcatgtgctcINScccaatcttcagcacgtcca					rs145188239		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:50169305_50169306T>TC	uc011arg.2	-	11	3087_3088	c.3073_3074A>GA	c.(3073-3075)gagfs	p.E1025fs	BRD1_uc011arf.2_Frame_Shift_Ins_p.E702fs|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Frame_Shift_Ins_p.E976fs|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Frame_Shift_Ins_p.E1107fs	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	976					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGCATGTGCTCCCCAATCTTC	0.569													C	50169307	-	C	50169306	7	5	235	1	0	1	1	0	0	0	0	0	1501	864	30	0	258	0	BRD1	22	50169306	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	1	50169306	1135260	1554	119147	608	2									
TTLL8	164714	broad.mit.edu	37	chr22	50470410	50470410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccccacacggcgccaCggccctggcgctgcaggtac	13	19	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chr22:50470410C>T	uc011ark.1	-	11	1412	c.1412G>A	c.(1411-1413)CGT>CAT	p.R471H		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		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)		CACGGCGCCACGGCCCTGGCG	0.642													T	50470410	C	T	50470410	3	4	235	1	0	0	0	0	1	0	0	0	16730	536	19	1	1107	1	TTLL8	22	50470410	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	301104	50470410	834156	1555	119148											
PPP2R3B	28227	broad.mit.edu	37	chrX	306382	306382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcagctggttgatgtccGcctcctcctccagcagcgcc	11	17	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:306382G>A	uc004cpg.2	-	7	1106	c.905C>T	c.(904-906)GCG>GTG	p.A302V	PPP2R3B_uc011mha.1_Missense_Mutation_p.A141V	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	302					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				0		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)				GTTGATGTCCGCCTCCTCCTC	0.637													A	306382	G	A	306382	3	1	235	1	0	0	0	0	1	0	0	0	12389	1087	38	1	850	1	PPP2R3B	23	306382	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08		306382	154964178	1556	119149											
SFRS17A	8227	broad.mit.edu	37	chrX	1714399	1714399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcagagagaaggaagcGgaggagaggcagcgagcgga	20	6	0	3			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:1714399G>A	uc004cqa.2	+	3	1081	c.885G>A	c.(883-885)GCG>GCA	p.A295A	SFRS17A_uc010ncx.1_Silent_p.A295A|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'UTR	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	295					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		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)				AGAAGGAAGCGGAGGAGAGGC	0.572													A	1714399	G	A	1714399	2	1	235	1	0	0	0	0	0	0	0	1	14173	1103	39	1		1	SFRS17A	23	1714399	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1408017	1714399	153556161	1557	119150											
PIGA	5277	broad.mit.edu	37	chrX	15349630	15349630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccccattgtcttggcGtggaagagagcatcatgggc	14	9	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:15349630G>A	uc004cwr.2	-	2	523	c.423C>T	c.(421-423)CAC>CAT	p.H141H	PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	141	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					TTGTCTTGGCGTGGAAGAGAG	0.468													A	15349630	G	A	15349630	2	1	235	1	0	0	0	0	0	0	0	1	11884	1136	40	1		1	PIGA	23	15349630	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	13635231	15349630	139920930	1558	119151											
PHKA2	5256	broad.mit.edu	37	chrX	18912415	18912415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccgtgtccgagagcagCgtcagcaccatgatggcttc	11	13	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:18912415C>T	uc004cyv.3	-	32	3874	c.3444G>A	c.(3442-3444)ACG>ACA	p.T1148T	uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.T454T|PHKA2_uc010nfe.1_Silent_p.T180T|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1148					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					CCGAGAGCAGCGTCAGCACCA	0.612													T	18912415	C	T	18912415	2	4	235	1	0	0	0	0	0	0	0	1	11844	755	27	1		1	PHKA2	23	18912415	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	3562785	18912415	136358145	1559	119152											
MAGEB4	4115	broad.mit.edu	37	chrX	30260314	30260314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccagcggacccgtggtcAgacccaggatctcaaggttg	13	13	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:30260314A>G	uc004dcb.2	+	1	146	c.62A>G	c.(61-63)CAG>CGG	p.Q21R	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	21										ovary(1)	1						ACCCGTGGTCAGACCCAGGAT	0.567													G	30260314	A	G	30260314	3	3	235	1	0	0	0	0	1	0	0	0	9178	188	7	3	64	3	MAGEB4	23	30260314	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	11347899	30260314	125010246	1560	119153											
FTHL17	53940	broad.mit.edu	37	chrX	31090062	31090062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacctgcgacggctgggcGgtggccatggcgggcagcgc	19	14	0	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:31090062G>A	uc004dcl.1	-	1	112	c.9C>T	c.(7-9)ACC>ACT	p.T3T		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	3					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity				0						ACGGCTGGGCGGTGGCCATGG	0.632													A	31090062	G	A	31090062	2	1	235	1	0	0	0	0	0	0	0	1	6083	1103	39	1		1	FTHL17	23	31090062	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	829748	31090062	124180498	1561	119154											
PHF16	9767	broad.mit.edu	37	chrX	46884163	46884163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggacgttctgtttatcCgaccccggaagtatattcac	8	10	2	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:46884163C>T	uc004dgx.2	+	5	373	c.322C>T	c.(322-324)CGA>TGA	p.R108*	PHF16_uc004dgy.2_Nonsense_Mutation_p.R108*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	108					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						TCTGTTTATCCGACCCCGGAA	0.448													T	46884163	C	T	46884163	4	4	235	1	0	0	0	0	0	1	0	0	11827	644	23	1	336	1	PHF16	23	46884163	Nonsense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	15794101	46884163	108386397	1562	119155											
CFP	5199	broad.mit.edu	37	chrX	47486543	47486543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatcctggtgtacctgGgcagggtggcaggccggtgc	17	12	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:47486543G>T	uc004dig.3	-	5	889	c.763C>A	c.(763-765)CCA>ACA	p.P255T	CFP_uc004dih.2_Missense_Mutation_p.P255T|CFP_uc004dii.1_Missense_Mutation_p.P191T|CFP_uc010nhu.2_Missense_Mutation_p.P255T	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	255	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						GGTGTACCTGGGCAGGGTGGC	0.617													T	47486543	G	T	47486543	3	4	235	1	0	0	0	0	1	0	0	0	3293	1232	43	5	666	5	CFP	23	47486543	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	602380	47486543	107784017	1563	119156											
KCND1	3750	broad.mit.edu	37	chrX	48820066	48820066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcattgaggctggagcGgctgtggacaagggtggaga	19	6	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:48820066G>A	uc004dlx.1	-	6	3293	c.1720C>T	c.(1720-1722)CGC>TGC	p.R574C	KCND1_uc004dlw.1_Missense_Mutation_p.R197C	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	574	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						AGGCTGGAGCGGCTGTGGACA	0.408													A	48820066	G	A	48820066	3	1	235	1	0	0	0	0	1	0	0	0	8018	1130	39	1	227	1	KCND1	23	48820066	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	1333523	48820066	106450494	1564	119157											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142650	49142650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcacctgagccgcctaCgggctgctgtggctgcgggt	15	13	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:49142650C>T	uc004dnh.1	+	4	1514	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	PPP1R3F_uc011mnd.1_Missense_Mutation_p.R171W|PPP1R3F_uc004dni.2_Missense_Mutation_p.R154W|PPP1R3F_uc004dnj.1_Missense_Mutation_p.R154W	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	500	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GAGCCGCCTACGGGCTGCTGT	0.677													T	49142650	C	T	49142650	3	4	235	1	0	0	0	0	1	0	0	0	12375	527	19	1	1512	1	PPP1R3F	23	49142650	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	322584	49142650	106127910	1565	119158											
FOXO4	4303	broad.mit.edu	37	chrX	70321551	70321551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataacatcatcagtgacctcAtggatgagggcgagggactg	13	8	3	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:70321551A>G	uc004dys.1	+	2	1824	c.1471A>G	c.(1471-1473)ATG>GTG	p.M491V	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.M436V	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	491					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CAGTGACCTCATGGATGAGGG	0.493													G	70321551	A	G	70321551	3	3	235	1	0	0	0	0	1	0	0	0	6025	217	8	3	1477	3	FOXO4	23	70321551	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	21178901	70321551	84949009	1566	119159											
MED12	9968	broad.mit.edu	37	chrX	70341606	70341606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccctcgactccctttagTgacctgcttatgtgccctca	6	16	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:70341606T>C	uc004dyy.2	+	7	1240	c.1041T>C	c.(1039-1041)AGT>AGC	p.S347S	MED12_uc011mpq.1_Silent_p.S347S|MED12_uc004dyz.2_Silent_p.S347S|MED12_uc004dza.2_Silent_p.S194S	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	347					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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CTCCCTTTAGTGACCTGCTTA	0.557													C	70341606	T	C	70341606	2	2	235	1	0	0	0	0	0	0	0	1	9428	1693	59	3		3	MED12	23	70341606	Silent	SNP	T	TCGA-F1-6177-01A-11D-1800-08	20055	70341606	84928954	1567	119160											
NAP1L2	4674	broad.mit.edu	37	chrX	72434173	72434173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttccccaagcccagcGgcagcttcttcaccgcactt	6	19	3	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:72434173G>A	uc004ebi.2	-	1	512	c.156C>T	c.(154-156)GCC>GCT	p.A52A	NAP1L2_uc011mqj.1_Intron	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	52					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CAAGCCCAGCGGCAGCTTCTT	0.572													A	72434173	G	A	72434173	2	1	235	1	0	0	0	0	0	0	0	1	10157	1103	39	1		1	NAP1L2	23	72434173	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	2092567	72434173	82836387	1568	119161											
ATP7A	538	broad.mit.edu	37	chrX	77253979	77253979	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccctttctaccagacacGaatgagccgttggtagtaat	8	10	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:77253979G>A	uc004ecx.3	+	5	1501	c.1341G>A	c.(1339-1341)ACG>ACA	p.T447T	ATP7A_uc004ecw.2_Silent_p.T447T	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	447	Cytoplasmic (Potential).				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|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				0						TACCAGACACGAATGAGCCGT	0.408													A	77253979	G	A	77253979	2	1	235	1	0	0	0	0	0	0	0	1	1190	1045	37	1		1	ATP7A	23	77253979	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	4819806	77253979	78016581	1569	119162											
POU3F4	5456	broad.mit.edu	37	chrX	82764008	82764008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcacactgtatggtaacGtgttctcgcagaccaccatc	10	12	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:82764008G>A	uc004eeg.2	+	1	740	c.676G>A	c.(676-678)GTG>ATG	p.V226M		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	226	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTATGGTAACGTGTTCTCGCA	0.527													A	82764008	G	A	82764008	3	1	235	1	0	0	0	0	1	0	0	0	12277	1145	40	1	678	1	POU3F4	23	82764008	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5510029	82764008	72506552	1570	119163											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177144	89177144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtggaaaaagacagcccGgcgaagacccaaagcccagc	12	14	0	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:89177144G>A	uc004efe.2	+	2	109	c.60G>A	c.(58-60)CCG>CCA	p.P20P		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						AAGACAGCCCGGCGAAGACCC	0.532													A	89177144	G	A	89177144	2	1	235	1	0	0	0	0	0	0	0	1	15824	1103	39	1		1	TGIF2LX	23	89177144	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	6413136	89177144	66093416	1571	119164											
DRP2	1821	broad.mit.edu	37	chrX	100496692	100496692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggatccagaatctcagcCgctttgtatggaagcaggcg	13	10	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:100496692C>T	uc004egz.2	+	7	964	c.595C>T	c.(595-597)CGC>TGC	p.R199C	DRP2_uc011mrh.1_Missense_Mutation_p.R121C	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	199					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GAATCTCAGCCGCTTTGTATG	0.577													T	100496692	C	T	100496692	3	4	235	1	0	0	0	0	1	0	0	0	4764	652	23	1	613	1	DRP2	23	100496692	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	11319548	100496692	54773868	1572	119165											
CHRDL1	91851	broad.mit.edu	37	chrX	109937472	109937472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatccataagagctccccGgtgacttctggccccaggaa	11	13	1	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:109937472G>A	uc004eou.3	-	8	1046	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CHRDL1_uc004eov.2_Missense_Mutation_p.R227W|CHRDL1_uc004eow.2_Missense_Mutation_p.R232W|CHRDL1_uc010nps.2_Missense_Mutation_p.R232W|CHRDL1_uc004eot.2_Missense_Mutation_p.R153W|CHRDL1_uc011mss.1_Missense_Mutation_p.R147W	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	226					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						AGAGCTCCCCGGTGACTTCTG	0.493													A	109937472	G	A	109937472	3	1	235	1	0	0	0	0	1	0	0	0	3373	1115	39	1	699	1	CHRDL1	23	109937472	Missense_Mutation	SNP	G	TCGA-F1-6177-01A-11D-1800-08	9440780	109937472	45333088	1573	119166											
CD40LG	959	broad.mit.edu	37	chrX	135741286	135741286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaccgttaaaagacaAggactctattatatctatgc	7	9	2	2			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:135741286A>C	uc004faa.2	+	5	570	c.498A>C	c.(496-498)CAA>CAC	p.Q166H	CD40LG_uc010nsd.2_Missense_Mutation_p.Q145H	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	166	Extracellular (Potential).				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			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TTAAAAGACAAGGACTCTATT	0.453									Immune_Deficiency_with_Hyper-IgM				C	135741286	A	C	135741286	3	2	235	1	0	0	0	0	1	0	0	0	3016	69	3	5	516	5	CD40LG	23	135741286	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	25803814	135741286	19529274	1574	119167											
GPR101	83550	broad.mit.edu	37	chrX	136113077	136113077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcctggaactcctcctTcttctctgctccctcttcat	3	18	5	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:136113077T>C	uc011mwh.1	-	1	757	c.757A>G	c.(757-759)AAG>GAG	p.K253E		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	253	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					AACTCCTCCTTCTTCTCTGCT	0.557													C	136113077	T	C	136113077	3	2	235	1	0	0	0	0	1	0	0	0	6622	1792	62	3	772	3	GPR101	23	136113077	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	371791	136113077	19157483	1575	119168											
MAGEC3	139081	broad.mit.edu	37	chrX	140983317	140983317	+	Frame_Shift_Del	DEL	G	G	-													ggccgccgagggctgaccgaGgcgtccccacaacagaagaa							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:140983317delG	uc011mwp.1	+	6	1095	c.1095delG	c.(1093-1095)GAGfs	p.E365fs	MAGEC3_uc004fbs.2_Intron|MAGEC3_uc010nsj.2_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	365	MAGE 1.			GLTEASPQQKKGG -> SSPLPSTLILGVP (in Ref. 3).						skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGACCGAGGCGTCCCCAC	0.612													-	140983317	G	-	140983317	7	5	235	1	0	1	0	1	0	0	0	0	9182	991	35	0	1117	0	MAGEC3	23	140983317	Frame_Shift_Del	DEL	G	TCGA-F1-6177-01A-11D-1800-08	4870240	140983317	14287243	1576	119169											
AFF2	2334	broad.mit.edu	37	chrX	148037756	148037756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacacagatcaggaagagacCctgcaaatcaaagtcctgcc	8	12	2	2	rs143927826	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:148037756C>A	uc004fcp.2	+	11	2660	c.2181C>A	c.(2179-2181)ACC>ACA	p.T727T	AFF2_uc004fcq.2_Silent_p.T717T|AFF2_uc004fcr.2_Silent_p.T688T|AFF2_uc011mxb.1_Silent_p.T692T|AFF2_uc004fcs.2_Silent_p.T694T|AFF2_uc011mxc.1_Silent_p.T368T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	727					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAGACCCTGCAAATCA	0.468													A	148037756	C	A	148037756	2	1	235	1	0	0	0	0	0	0	0	1	357	610	22	5		5	AFF2	23	148037756	Silent	SNP	C	TCGA-F1-6177-01A-11D-1800-08	7054439	148037756	7232804	1577	119170											
PASD1	139135	broad.mit.edu	37	chrX	150817164	150817164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtatctcagacgtatgtacat	10	11	1	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:150817164C>T	uc004fev.3	+	9	1039	c.707C>T	c.(706-708)GCT>GTT	p.A236V		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					gctgctgctgctATCTCAGAC	0.343													T	150817164	C	T	150817164	3	4	235	1	0	0	0	0	1	0	0	0	11471	797	28	2	737	2	PASD1	23	150817164	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	2779408	150817164	4453396	1578	119171											
MAGEA12	4111	broad.mit.edu	37	chrX	151900304	151900304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcggaccacttccaccAcctcgatgccaaagaccagc	8	17	0	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:151900304A>G	uc010ntp.2	-	3	851	c.497T>C	c.(496-498)GTG>GCG	p.V166A	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.V166A|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	166	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CACTTCCACCACCTCGATGCC	0.547													G	151900304	A	G	151900304	3	3	235	1	0	0	0	0	1	0	0	0	9166	159	6	3	451	3	MAGEA12	23	151900304	Missense_Mutation	SNP	A	TCGA-F1-6177-01A-11D-1800-08	1083140	151900304	3370256	1579	119172											
ATP2B3	492	broad.mit.edu	37	chrX	152801812	152801812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctggcggagctgcgcaCcctcatggagctgcgagggg	17	13	1	0			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:152801812C>T	uc004fht.1	+	1	233	c.107C>T	c.(106-108)ACC>ATC	p.T36I	ATP2B3_uc004fhs.1_Missense_Mutation_p.T36I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	36	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTGCGCACCCTCATGGAG	0.662													T	152801812	C	T	152801812	3	4	235	1	0	0	0	0	1	0	0	0	1141	507	18	4	109	4	ATP2B3	23	152801812	Missense_Mutation	SNP	C	TCGA-F1-6177-01A-11D-1800-08	901508	152801812	2468748	1580	119173											
OPN1LW	5956	broad.mit.edu	37	chrX	153421852	153421852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggtgatgatctttgcGtactgcgtctgctggggacc	16	8	2	2	rs2315125		TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153421852G>A	uc004fjz.3	+	5	861	c.828G>A	c.(826-828)GCG>GCA	p.A276A		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	276	Helical; Name=6; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	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)					TGATCTTTGCGTACTGCGTCT	0.567													A	153421852	G	A	153421852	2	1	235	1	0	0	0	0	0	0	0	1	10877	1132	40	1		1	OPN1LW	23	153421852	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	620040	153421852	1848708	1581	119174											
PLXNA3	55558	broad.mit.edu	37	chrX	153688565	153688566	+	Frame_Shift_Ins	INS	-	-	G													tgctgctcttccttgccgtgINSgggggggccctgggcaacag							TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153688564_153688565T>TG	uc004flm.3	+	1	214_215	c.41_42T>TG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		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)					TTCCTTGCCGTGGGGGGGGCCC	0.683													G	153688566	-	G	153688565	7	5	235	1	0	1	1	0	0	0	0	0	12121	1335	47	0	44	0	PLXNA3	23	153688565	Frame_Shift_Ins	INS	-	TCGA-F1-6177-01A-11D-1800-08	266713	153688565	1581995	1582	119175											
PLXNA3	55558	broad.mit.edu	37	chrX	153694127	153694127	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggacccactgcccggccccGaagaccaactggatgcacct	10	18	0	1	rs145475407	byFrequency	TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153694127G>A	uc004flm.2	+	13	2642	c.2469G>A	c.(2467-2469)CCG>CCA	p.P823P		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	823	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					GCCCGGCCCCGAAGACCAACT	0.677													A	153694127	G	A	153694127	2	1	235	1	0	0	0	0	0	0	0	1	12121	1045	37	1		1	PLXNA3	23	153694127	Silent	SNP	G	TCGA-F1-6177-01A-11D-1800-08	5562	153694127	1576433	1583	119176											
G6PD	2539	broad.mit.edu	37	chrX	153762274	153762274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcccaaattcatcgaaaTagcccccgcgaccctcagtg	7	15	2	1			TCGA-F1-6177-01A-11D-1800-08	TCGA-F1-6177-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d0617e8-2725-4411-b50f-e46ea1d43242	d45b2ed4-f736-470e-92c0-b06718a57582	g.chrX:153762274T>C	uc004fly.1	-	7	859	c.746A>G	c.(745-747)TAT>TGT	p.Y249C	G6PD_uc004flx.1_Missense_Mutation_p.Y279C	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	249					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			ovary(4)	4	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)					TTCATCGAAATAGCCCCCGCG	0.587													C	153762274	T	C	153762274	3	2	235	1	0	0	0	0	1	0	0	0	6146	1406	49	3	829	3	G6PD	23	153762274	Missense_Mutation	SNP	T	TCGA-F1-6177-01A-11D-1800-08	68147	153762274	1508286	1584	119177											
SLC45A1	50651	broad.mit.edu	37	chr1	8390484	8390484	+	Frame_Shift_Del	DEL	C	C	-													agagccccagcctcccgctgCccccgtccccacccgtcctg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:8390483_8390483GC>G	uc001apb.3	+	3	930	c.930_930GC>G	c.(928-930)ctgfs	p.L310fs	SLC45A1_uc001apc.3_Frame_Shift_Del_p.L8fs	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	310					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)		GCCTCCCGCTGCCCCCGTCCC	0.716													-	8390484	C	-	8390484	7	5	236	1	0	1	0	1	0	0	0	0	14640	739	26	0	945	0	SLC45A1	1	8390484	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08		8390484	240860137	1	119178											
RERE	473	broad.mit.edu	37	chr1	8674748	8674748	+	Splice_Site	DEL	A	A	-													ggcctgggagttgtggacctAaaaaagaaaacagttttaag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:8674747_8674747TA>T	uc001ape.3	-	5	1207	c.397_splice	c.e5-1	p.V133_splice	RERE_uc001apf.3_Splice_Site_p.V133_splice|RERE_uc001aph.1_Splice_Site_p.V133_splice	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	133	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	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)		GTTGTGGACCTAAAAAAGAAA	0.512													-	8674748	A	-	8674748	8	5	236	1	0	1	0	1	0	0	1	0	13231	377	13	0		0	RERE	1	8674748	Splice_Site	DEL	A	TCGA-F1-6874-01A-11D-1882-08	284264	8674748	240575873	2	119179											
UBE4B	10277	broad.mit.edu	37	chr1	10166514	10166514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagtccccctgccctcGccagtagcccccaagcagtg	8	21	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:10166514G>A	uc001aqs.3	+	7	1782	c.1069G>A	c.(1069-1071)GCC>ACC	p.A357T	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	357					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		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)		CCCTGCCCTCGCCAGTAGCCC	0.672													A	10166514	G	A	10166514	3	1	236	1	0	0	0	0	1	0	0	0	16880	1087	38	1	1095	1	UBE4B	1	10166514	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1491766	10166514	239084107	3	119180											
KIF1B	23095	broad.mit.edu	37	chr1	10399850	10399850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgcatcgccatgatgaagCattctccacggagcccctca	8	14	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:10399850C>A	uc001aqx.3	+	32	3648	c.3446C>A	c.(3445-3447)GCA>GAA	p.A1149E	KIF1B_uc001aqw.3_Missense_Mutation_p.A1103E|KIF1B_uc001aqy.2_Missense_Mutation_p.A1123E|KIF1B_uc001aqz.2_Missense_Mutation_p.A1149E|KIF1B_uc001ara.2_Missense_Mutation_p.A1109E|KIF1B_uc001arb.2_Missense_Mutation_p.A1135E	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1149					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		CATGATGAAGCATTCTCCACG	0.403													A	10399850	C	A	10399850	3	1	236	1	0	0	0	0	1	0	0	0	8284	710	25	5	4911	5	KIF1B	1	10399850	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	233336	10399850	238850771	4	119181											
CASZ1	54897	broad.mit.edu	37	chr1	10715779	10715779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgctgcagtcgtccagcGggctgaaacgcatgaagccg	14	12	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:10715779G>A	uc001aro.2	-	9	1912	c.1592C>T	c.(1591-1593)CCG>CTG	p.P531L	CASZ1_uc001arp.1_Missense_Mutation_p.P531L|CASZ1_uc009vmx.2_Missense_Mutation_p.P555L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		GTCGTCCAGCGGGCTGAAACG	0.612													A	10715779	G	A	10715779	3	1	236	1	0	0	0	0	1	0	0	0	2685	1116	39	1	3743	1	CASZ1	1	10715779	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	315929	10715779	238534842	5	119182											
MASP2	10747	broad.mit.edu	37	chr1	11105485	11105485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaggtgcgcttgttaCggtgcaggacgtagcctgcg	16	10	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:11105485C>T	uc001aru.2	-	4	545	c.524G>A	c.(523-525)CGT>CAT	p.R175H	MASP2_uc001arv.2_Missense_Mutation_p.R175H|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.R175H	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	175	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	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)		GCGCTTGTTACGGTGCAGGAC	0.687													T	11105485	C	T	11105485	3	4	236	1	0	0	0	0	1	0	0	0	9323	536	19	1	1586	1	MASP2	1	11105485	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	389706	11105485	238145136	6	119183											
FBXO6	26270	broad.mit.edu	37	chr1	11728803	11728803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgttcacgcacgtgcccGcccgccagctgctgctgaac	11	17	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:11728803G>T	uc001aso.2	+	2	254	c.88G>T	c.(88-90)GCC>TCC	p.A30S		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	F-box only protein 6	30	F-box.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			lung(1)	1	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;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCACGTGCCCGCCCGCCAGCT	0.642													T	11728803	G	T	11728803	3	4	236	1	0	0	0	0	1	0	0	0	5759	1087	38	5	90	5	FBXO6	1	11728803	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	623318	11728803	237521818	7	119184											
PLOD1	5351	broad.mit.edu	37	chr1	12010421	12010421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggccacagctatgacGtgctgtttgcatcggggccc	13	13	1	1	rs141809154		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:12010421G>A	uc001atm.2	+	4	401	c.310G>A	c.(310-312)GTG>ATG	p.V104M	PLOD1_uc010obb.1_Missense_Mutation_p.V151M	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	104					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			ovary(2)|breast(1)	3	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)	CAGCTATGACGTGCTGTTTGC	0.637													A	12010421	G	A	12010421	3	1	236	1	0	0	0	0	1	0	0	0	12101	1145	40	1	324	1	PLOD1	1	12010421	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	281618	12010421	237240200	8	119185											
VPS13D	55187	broad.mit.edu	37	chr1	12335954	12335954	+	Frame_Shift_Del	DEL	C	C	-													tagtgatgatgaatataagaCccccctggccacacctccta							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:12335953_12335953AC>A	uc001atv.3	+	18	2449	c.2308_2308AC>A	c.(2308-2310)accfs	p.T770fs	VPS13D_uc001atw.3_Frame_Shift_Del_p.T770fs|VPS13D_uc001atx.3_5'UTR	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	770					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)		TGAATATAAGACCCCCCTGGC	0.458											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	12335954	C	-	12335954	7	5	236	1	0	1	0	1	0	0	0	0	17189	507	18	0	2379	0	VPS13D	1	12335954	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	325533	12335954	236914667	9	119186											
AADACL3	126767	broad.mit.edu	37	chr1	12785495	12785496	+	Frame_Shift_Ins	INS	-	-	T													ggagtttcatctgctactgtINSttttttcaaaacctggattt					rs7513079	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:12785494_12785495G>GT	uc009vnn.1	+	3	817_818	c.584_585G>GT	c.(583-585)tgtfs	p.C195fs	AADACL3_uc001aug.1_Frame_Shift_Ins_p.C125fs	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	195			C -> F (in dbSNP:rs7513079).				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)		ATCTGCTACTGTTTTTTTCAAA	0.46													T	12785496	-	T	12785495	7	5	236	1	0	1	1	0	0	0	0	0	12	1731	60	0	603	0	AADACL3	1	12785495	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	449541	12785495	236465126	10	119187											
TMEM51	55092	broad.mit.edu	37	chr1	15541698	15541698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtacccggcttcagcGcggccgagaagccaacagct	12	15	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:15541698G>A	uc001avw.3	+	3	634	c.115G>A	c.(115-117)GCG>ACG	p.A39T	TMEM51_uc010obk.1_Missense_Mutation_p.A39T|TMEM51_uc001avz.2_Missense_Mutation_p.A39T|TMEM51_uc001avy.2_Missense_Mutation_p.A39T|TMEM51_uc001avx.2_Missense_Mutation_p.A39T	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	39						integral to membrane					0		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)		CGGCTTCAGCGCGGCCGAGAA	0.637													A	15541698	G	A	15541698	3	1	236	1	0	0	0	0	1	0	0	0	16174	1087	38	1	117	1	TMEM51	1	15541698	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2756203	15541698	233708923	11	119188											
DNAJC16	23341	broad.mit.edu	37	chr1	15894398	15894398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataagcatttcatggagcGtgactacactggttatgtac	10	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:15894398G>A	uc001aws.2	+	15	2195	c.2075G>A	c.(2074-2076)CGT>CAT	p.R692H	DNAJC16_uc001awt.2_Missense_Mutation_p.R380H|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	692	Extracellular (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		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)		TTCATGGAGCGTGACTACACT	0.443													A	15894398	G	A	15894398	3	1	236	1	0	0	0	0	1	0	0	0	4635	1145	40	1	2129	1	DNAJC16	1	15894398	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	352700	15894398	233356223	12	119189											
CROCC	9696	broad.mit.edu	37	chr1	17295652	17295652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggaccctgcagctgacCgtggagcggctgaatggggc	18	11	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:17295652C>T	uc001azt.2	+	32	5187	c.5118C>T	c.(5116-5118)ACC>ACT	p.T1706T	CROCC_uc001azu.2_Silent_p.T1009T|CROCC_uc001azv.2_Silent_p.T42T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1706					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		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)		TGCAGCTGACCGTGGAGCGGC	0.667													T	17295652	C	T	17295652	2	4	236	1	0	0	0	0	0	0	0	1	3893	639	23	1		1	CROCC	1	17295652	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1401254	17295652	231954969	13	119190											
UBR4	23352	broad.mit.edu	37	chr1	19513722	19513722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggacagagtcaatcagcCgttgaatcctctgtatggag	13	8	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:19513722C>T	uc001bbi.2	-	13	1572	c.1568G>A	c.(1567-1569)CGG>CAG	p.R523Q		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	523					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		GTCAATCAGCCGTTGAATCCT	0.483													T	19513722	C	T	19513722	3	4	236	1	0	0	0	0	1	0	0	0	16901	652	23	1	14359	1	UBR4	1	19513722	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2218070	19513722	229736899	14	119191											
KDM1A	23028	broad.mit.edu	37	chr1	23405511	23405511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatagctgtgaatacccgCtccacgagtcaaacctttat	8	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:23405511C>T	uc001bgi.2	+	15	1973	c.1824C>T	c.(1822-1824)CGC>CGT	p.R608R	KDM1A_uc001bgj.2_Silent_p.R632R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	608	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|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 transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						TGAATACCCGCTCCACGAGTC	0.488													T	23405511	C	T	23405511	2	4	236	1	0	0	0	0	0	0	0	1	8122	784	28	2		2	KDM1A	1	23405511	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3891789	23405511	225845110	15	119192											
ARID1A	8289	broad.mit.edu	37	chr1	27088788	27088788	+	Frame_Shift_Del	DEL	G	G	-													atggggagctatggtccccaGgggggtcagtatggcccaca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27088787_27088787AG>A	uc001bmv.1	+	6	2769	c.2396_2396AG>A	c.(2395-2397)cagfs	p.Q799fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q799fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q799fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q416fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	799					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	SWI/SNF complex|nBAF complex|npBAF 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)		TATGGTCCCCAGGGGGGTCAG	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27088788	G	-	27088788	7	5	236	1	0	1	0	1	0	0	0	0	913	991	35	0	2423	0	ARID1A	1	27088788	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	3683277	27088788	222161833	16	119193											
ARID1A	8289	broad.mit.edu	37	chr1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-													tggacctgattctggccacaCcccccttcagccgcctggag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					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	SWI/SNF complex|nBAF complex|npBAF 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)		TTCTGGCCACACCCCCCTTCA	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106804	C	-	27106804	7	5	236	1	0	1	0	1	0	0	0	0	913	507	18	0	6493	0	ARID1A	1	27106804	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	18016	27106804	222143817	17	119194											
WDTC1	23038	broad.mit.edu	37	chr1	27618840	27618840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggcagttggggccaGcgggcccttcgtgaggctct	16	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27618840G>A	uc009vst.2	+	7	1149	c.614G>A	c.(613-615)AGC>AAC	p.S205N	WDTC1_uc001bno.2_Missense_Mutation_p.S205N|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	205	WD 4.						protein binding			ovary(1)|central_nervous_system(1)	2		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)		GTTGGGGCCAGCGGGCCCTTC	0.562													A	27618840	G	A	27618840	3	1	236	1	0	0	0	0	1	0	0	0	17339	971	34	2	636	2	WDTC1	1	27618840	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	512036	27618840	221631781	18	119195											
AHDC1	27245	broad.mit.edu	37	chr1	27875931	27875931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccgctgctacccactGccactgggctggccttggct	11	18	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27875931G>A	uc009vsy.2	-	6	3665	c.2696C>T	c.(2695-2697)GCA>GTA	p.A899V	AHDC1_uc009vsz.1_Missense_Mutation_p.A899V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	899							DNA binding			central_nervous_system(1)	1		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)		GCTACCCACTGCCACTGGGCT	0.692													A	27875931	G	A	27875931	3	1	236	1	0	0	0	0	1	0	0	0	412	1319	46	2	2119	2	AHDC1	1	27875931	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	257091	27875931	221374690	19	119196											
ATPIF1	93974	broad.mit.edu	37	chr1	28564412	28564414	+	In_Frame_Del	DEL	AAG	AAG	-													aagaagaaatcgttcatcatAagaaggagattgagcgtctg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:28564411_28564413TAAG>T	uc001bpq.3	+	2	336_338	c.243_245TAAG>T	c.(241-246)cataag>caTg	p.K83del	ATPIF1_uc001bpp.3_3'UTR|ATPIF1_uc001bpr.3_3'UTR	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN	Homo sapiens ATPase inhibitory factor 1 (ATPIF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83					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	ATPase binding|ATPase inhibitor activity|angiostatin binding|calmodulin binding|protein homodimerization activity	p.K82Q(4)|p.K82N(2)		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)		TCGTTCATCATAAGAAGGAGATT	0.414													-	28564414	AAG	-	28564412	7	5	236	1	0	1	0	1	0	0	0	0	1203	363	13	0	299	0	ATPIF1	1	28564412	In_Frame_Del	DEL	AAG	TCGA-F1-6874-01A-11D-1882-08	688481	28564412	220686209	20	119197											
TRIM62	55223	broad.mit.edu	37	chr1	33623903	33623903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggtgtactgcaggggGcctgtgtacttggaggtcgg	18	7	0	1	rs115222802	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:33623903G>A	uc001bxb.2	-	4	1466	c.828C>T	c.(826-828)GGC>GGT	p.G276G		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	276						intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				ACTGCAGGGGGCCTGTGTACT	0.562													A	33623903	G	A	33623903	2	1	236	1	0	0	0	0	0	0	0	1	16534	1190	42	2		2	TRIM62	1	33623903	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5059491	33623903	215626718	21	119198											
C1orf94	84970	broad.mit.edu	37	chr1	34677853	34677853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgggacagcagatcttcCgctcttcctacacccctctg	8	15	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:34677853C>T	uc001bxs.3	+	6	1396	c.997C>T	c.(997-999)CGC>TGC	p.R333C	C1orf94_uc001bxt.2_Missense_Mutation_p.R523C	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	333							protein binding				0		Myeloproliferative disorder(586;0.0393)				GCAGATCTTCCGCTCTTCCTA	0.488													T	34677853	C	T	34677853	3	4	236	1	0	0	0	0	1	0	0	0	2071	652	23	1	1589	1	C1orf94	1	34677853	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1053950	34677853	214572768	22	119199											
THRAP3	9967	broad.mit.edu	37	chr1	36752298	36752298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctgaccggtcaaggcGctcctcatcctcccgttctt	8	16	5	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:36752298G>A	uc001cae.3	+	4	691	c.467G>A	c.(466-468)CGC>CAC	p.R156H	THRAP3_uc001caf.3_Missense_Mutation_p.R156H|THRAP3_uc001cag.1_Missense_Mutation_p.R156H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	156	Arg-rich.|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			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGTCAAGGCGCTCCTCATCC	0.527			T	USP6	aneurysmal bone cysts								A	36752298	G	A	36752298	3	1	236	1	0	0	0	0	1	0	0	0	15871	1087	38	1	473	1	THRAP3	1	36752298	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2074445	36752298	212498323	23	119200											
CSF3R	1441	broad.mit.edu	37	chr1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-													ttgttgctattgctcgcgctGggggggcccaggccccactc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:36935322_36935322TG>T	uc001caw.2	-	10	1989	c.1405_1405CA>A	c.(1405-1407)agcfs	p.S469fs	CSF3R_uc001cav.2_Frame_Shift_Del_p.S469fs|CSF3R_uc001cax.2_Frame_Shift_Del_p.S469fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCC	0.637													-	36935323	G	-	36935323	7	5	236	1	0	1	0	1	0	0	0	0	3937	1335	47	0	1324	0	CSF3R	1	36935323	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	183025	36935323	212315298	24	119201											
GRIK3	2899	broad.mit.edu	37	chr1	37316021	37316021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggcaggactccacaccCcaacctggatggacacagac	10	16	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:37316021C>A	uc001caz.2	-	9	1352	c.1217G>T	c.(1216-1218)GGG>GTG	p.G406V	GRIK3_uc001cba.1_Missense_Mutation_p.G406V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	406	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ACTCCACACCCCAACCTGGAT	0.512													A	37316021	C	A	37316021	3	1	236	1	0	0	0	0	1	0	0	0	6775	623	22	5	1574	5	GRIK3	1	37316021	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	380698	37316021	211934600	25	119202											
EPHA10	284656	broad.mit.edu	37	chr1	38185238	38185238	+	Frame_Shift_Del	DEL	G	G	-													agaaggttaggacagttcctGgggggtggcagccggaagcc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:38185238delG	uc009vvi.2	-	15	2690	c.2604delC	c.(2602-2604)CCCfs	p.P868fs	EPHA10_uc001cbt.2_RNA|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	868	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACAGTTCCTGGGGGGTGGCA	0.617													-	38185238	G	-	38185238	7	5	236	1	0	1	0	1	0	0	0	0	5166	1335	47	0	434	0	EPHA10	1	38185238	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	869217	38185238	211065383	26	119203											
GUCA2A	2980	broad.mit.edu	37	chr1	42629124	42629124	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctccttgcagagaggcttgAgttcttctggaaagttcggg	14	8	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:42629124A>T	uc001chd.1	-	2	245	c.233T>A	c.(232-234)CTC>CAC	p.L78H		NM_033553	NP_291031	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A precursor	78					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			pancreas(1)	1	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGCTTGAGTTCTTCTGG	0.562													T	42629124	A	T	42629124	3	4	236	1	0	0	0	0	1	0	0	0	6891	304	11	5	122	5	GUCA2A	1	42629124	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	4443886	42629124	206621497	27	119204											
LEPRE1	64175	broad.mit.edu	37	chr1	43215937	43215937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtaggactccatgatgCgccgcaccttctccgtcacg	11	14	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43215937C>T	uc001chv.2	-	11	1753	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	LEPRE1_uc001chw.2_Missense_Mutation_p.R547H|LEPRE1_uc001chx.3_Missense_Mutation_p.R547H	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	547					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			ovary(3)|lung(1)	4	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)	CTCCATGATGCGCCGCACCTT	0.582													T	43215937	C	T	43215937	3	4	236	1	0	0	0	0	1	0	0	0	8729	768	27	1	609	1	LEPRE1	1	43215937	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	586813	43215937	206034684	28	119205											
ERMAP	114625	broad.mit.edu	37	chr1	43305712	43305712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattctttagagaaactcCggagtgaactgagtaagttt	9	6	2	3	rs141803620		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43305712C>T	uc001cic.1	+	9	916	c.646C>T	c.(646-648)CGG>TGG	p.R216W	ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.R216W|ERMAP_uc001cif.1_Missense_Mutation_p.R126W	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	216	Cytoplasmic (Potential).		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAAACTCCGGAGTGAACT	0.443													T	43305712	C	T	43305712	3	4	236	1	0	0	0	0	1	0	0	0	5234	643	23	1	672	1	ERMAP	1	43305712	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	89775	43305712	205944909	29	119206											
SLC2A1	6513	broad.mit.edu	37	chr1	43394615	43394615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcaccagcagtgctagCgcgatggtcatgagtatggc	12	11	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43394615C>T	uc001cik.2	-	8	1587	c.1062G>A	c.(1060-1062)GCG>GCA	p.A354A		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	354	Helical; Name=9; (Potential).				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			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GCAGTGCTAGCGCGATGGTCA	0.607													T	43394615	C	T	43394615	2	4	236	1	0	0	0	0	0	0	0	1	14538	755	27	1		1	SLC2A1	1	43394615	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	88903	43394615	205856006	30	119207											
TIE1	7075	broad.mit.edu	37	chr1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-													catgacggcgaatgtgtatgCccccctggcttcactggcac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43772909_43772909GC>G	uc001ciu.3	+	4	914	c.737_737GC>G	c.(736-738)tgcfs	p.C246fs	TIE1_uc010okd.2_Frame_Shift_Del_p.C246fs|TIE1_uc010oke.2_Frame_Shift_Del_p.C201fs|TIE1_uc009vwq.3_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Frame_Shift_Del_p.C246fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	246	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAATGTGTATGCCCCCCTGGC	0.632													-	43772910	C	-	43772910	7	5	236	1	0	1	0	1	0	0	0	0	15890	747	26	0	756	0	TIE1	1	43772910	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	378295	43772910	205477711	31	119208											
IPO13	9670	broad.mit.edu	37	chr1	44415613	44415613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtggggctgtcttcccGctgctggagcagctgctaca	14	11	1	0	rs150416503	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:44415613G>A	uc001ckx.2	+	2	1404	c.609G>A	c.(607-609)CCG>CCA	p.P203P		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	203	HEAT 2.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGTCTTCCCGCTGCTGGAGC	0.637													A	44415613	G	A	44415613	2	1	236	1	0	0	0	0	0	0	0	1	7794	1074	38	1		1	IPO13	1	44415613	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	642703	44415613	204835008	32	119209											
RNF220	55182	broad.mit.edu	37	chr1	45116433	45116433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcccggagacctgcggAggatctacttgtgagctatc	13	12	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:45116433A>G	uc001clv.1	+	15	2047	c.1687A>G	c.(1687-1689)AGG>GGG	p.R563G	RNF220_uc001clw.1_Missense_Mutation_p.R563G|RNF220_uc010oky.1_Missense_Mutation_p.R350G|RNF220_uc010okz.1_3'UTR|RNF220_uc001clx.1_Missense_Mutation_p.R279G|RNF220_uc001cly.1_Missense_Mutation_p.R243G|RNF220_uc001clz.1_Missense_Mutation_p.R242G|RNF220_uc001cma.1_3'UTR|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	563					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AGACCTGCGGAGGATCTACTT	0.602													G	45116433	A	G	45116433	3	3	236	1	0	0	0	0	1	0	0	0	13483	295	11	3	1741	3	RNF220	1	45116433	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	700820	45116433	204134188	33	119210											
PTCH2	8643	broad.mit.edu	37	chr1	45292921	45292921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcctcagagccattgCggtacgagtggcgggtgatg	14	12	1	2	rs112613379	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:45292921C>T	uc010olf.1	-	16	2444	c.2432G>A	c.(2431-2433)CGC>CAC	p.R811H	PTCH2_uc010olg.1_Missense_Mutation_p.R509H	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	811	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCCATTGCGGTACGAGTG	0.622									Basal_Cell_Nevus_syndrome				T	45292921	C	T	45292921	3	4	236	1	0	0	0	0	1	0	0	0	12731	768	27	1	1227	1	PTCH2	1	45292921	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	176488	45292921	203957700	34	119211											
STIL	6491	broad.mit.edu	37	chr1	47717280	47717280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcactattgtcactgCtttgtaggagtccatatctc	6	11	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:47717280C>T	uc001crc.1	-	17	3547	c.3392G>A	c.(3391-3393)AGC>AAC	p.S1131N	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1085N|STIL_uc010omo.1_Missense_Mutation_p.S1114N|STIL_uc001crd.1_Missense_Mutation_p.S1132N|STIL_uc001cre.1_Missense_Mutation_p.S1131N	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1131					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTGTCACTGCTTTGTAGGAG	0.378													T	47717280	C	T	47717280	3	4	236	1	0	0	0	0	1	0	0	0	15281	797	28	2	475	2	STIL	1	47717280	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2424359	47717280	201533341	35	119212											
LRP8	7804	broad.mit.edu	37	chr1	53720817	53720817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgatgatcccgataacagcGgcagtgactgttgagcccat	11	11	0	3	rs146836225		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:53720817G>A	uc001cvi.1	-	16	2617	c.2475C>T	c.(2473-2475)GCC>GCT	p.A825A	LRP8_uc001cvh.1_Silent_p.A378A|LRP8_uc001cvk.1_Silent_p.A655A|LRP8_uc001cvj.1_Silent_p.A825A|LRP8_uc001cvl.1_Silent_p.A621A|LRP8_uc001cvm.1_Silent_p.A410A	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	825	Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						CGATAACAGCGGCAGTGACTG	0.512													A	53720817	G	A	53720817	2	1	236	1	0	0	0	0	0	0	0	1	8963	1103	39	1		1	LRP8	1	53720817	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6003537	53720817	195529804	36	119213											
C1orf175	374977	broad.mit.edu	37	chr1	55119766	55119766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaaggtgggccagttcccGctgggattccccatctccaa	10	13	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:55119766G>A	uc010ooe.1	+	3	1491	c.1167G>A	c.(1165-1167)CCG>CCA	p.P389P	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.P389P|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.P389P|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	389						integral to membrane	binding				0						GCCAGTTCCCGCTGGGATTCC	0.602													A	55119766	G	A	55119766	2	1	236	1	0	0	0	0	0	0	0	1	2016	1074	38	1		1	C1orf175	1	55119766	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1398949	55119766	194130855	37	119214											
C1orf175	374977	broad.mit.edu	37	chr1	55139382	55139382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcccacaggccctgggGccttggatgaactctgggaa	13	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:55139382G>A	uc010ooe.1	+	9	2028	c.1704G>A	c.(1702-1704)GGG>GGA	p.G568G	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.G136G|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.G86G|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.G568G|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	568						integral to membrane	binding				0						AGGCCCTGGGGCCTTGGATGA	0.547													A	55139382	G	A	55139382	2	1	236	1	0	0	0	0	0	0	0	1	2016	1190	42	2		2	C1orf175	1	55139382	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	19616	55139382	194111239	38	119215											
DOCK7	85440	broad.mit.edu	37	chr1	63008278	63008278	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatgctcagtttttgctcaCcattaattcaaaaaagaacc	4	10	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:63008278C>G	uc001daq.2	-	25	3079	c.3045_splice	c.e25+1	p.M1015_splice	DOCK7_uc001dan.2_Splice_Site_p.M876_splice|DOCK7_uc001dao.2_Splice_Site_p.M876_splice|DOCK7_uc001dap.2_Splice_Site_p.M984_splice|DOCK7_uc001dam.2_Splice_Site_p.M195_splice	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						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			ovary(2)	2						TTTTTGCTCACCATTAATTCA	0.383													G	63008278	C	G	63008278	5	3	236	1	0	0	0	0	0	0	1	0	4692	521	18	5	3480	5	DOCK7	1	63008278	Splice_Site	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7868896	63008278	186242343	39	119216											
ROR1	4919	broad.mit.edu	37	chr1	64515507	64515507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtggtccaggagccccGgaggctctcctttcggtcca	12	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:64515507G>A	uc001dbj.2	+	3	707	c.308G>A	c.(307-309)CGG>CAG	p.R103Q	ROR1_uc001dbi.3_Missense_Mutation_p.R103Q	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	103	Ig-like C2-type.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CAGGAGCCCCGGAGGCTCTCC	0.572													A	64515507	G	A	64515507	3	1	236	1	0	0	0	0	1	0	0	0	13526	1116	39	1	318	1	ROR1	1	64515507	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1507229	64515507	184735114	40	119217											
DEPDC1	55635	broad.mit.edu	37	chr1	68944833	68944833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaatacttacatgtccCttttttaagtagtcaagatg	5	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:68944833C>T	uc001dem.3	-	10	2223	c.2106G>A	c.(2104-2106)AAG>AAA	p.K702K	DEPDC1_uc001dej.3_Silent_p.K70K|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.K418K	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	702					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTACATGTCCCTTTTTTAAGT	0.239													T	68944833	C	T	68944833	2	4	236	1	0	0	0	0	0	0	0	1	4439	680	24	4		4	DEPDC1	1	68944833	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4429326	68944833	180305788	41	119218											
LRRC7	57554	broad.mit.edu	37	chr1	70504369	70504369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaaatccactgccgcccGgaatcttctaaaggtgttat	7	12	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:70504369G>A	uc001dep.2	+	19	2778	c.2748G>A	c.(2746-2748)CCG>CCA	p.P916P	LRRC7_uc009wbg.2_Silent_p.P200P|LRRC7_uc001deq.2_Silent_p.P157P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	916						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						ACTGCCGCCCGGAATCTTCTA	0.398													A	70504369	G	A	70504369	2	1	236	1	0	0	0	0	0	0	0	1	9020	1103	39	1		1	LRRC7	1	70504369	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1559536	70504369	178746252	42	119219											
HHLA3	11147	broad.mit.edu	37	chr1	70820864	70820864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagaagaggaatgaaggCcaaacaattaaaagcggagg	13	5	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:70820864C>T	uc001dfa.2	+	1	372	c.230C>T	c.(229-231)GCC>GTC	p.A77V	ANKRD13C_uc001dex.3_5'Flank|ANKRD13C_uc009wbk.2_5'Flank|ANKRD13C_uc001dey.3_5'Flank|HHLA3_uc010oqp.1_Intron|HHLA3_uc001dfb.2_Intron|HHLA3_uc001dfc.2_Intron	NM_001036645	NP_001031722	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3 isoform 2	77							protein binding				0						ggaatgaaggccaaacaatta	0.214													T	70820864	C	T	70820864	3	4	236	1	0	0	0	0	1	0	0	0	7096	739	26	2	232	2	HHLA3	1	70820864	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	316495	70820864	178429757	43	119220											
PTGER3	5733	broad.mit.edu	37	chr1	71513128	71513128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaccgatccgcaatcctCgccagaccctggagggcgcg	13	16	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:71513128C>T	uc001dfg.1	-	1	364	c.133G>A	c.(133-135)GAG>AAG	p.E45K	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.E45K|PTGER3_uc001dfl.1_Missense_Mutation_p.E45K|PTGER3_uc009wbm.1_Missense_Mutation_p.E45K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.E45K|PTGER3_uc009wbn.1_Missense_Mutation_p.E45K|PTGER3_uc009wbo.2_Missense_Mutation_p.E45K|PTGER3_uc001dfo.2_Missense_Mutation_p.E45K|PTGER3_uc001dfp.1_Missense_Mutation_p.E45K|PTGER3_uc001dfq.2_Missense_Mutation_p.E45K|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	45	Extracellular (Potential).				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			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	CCGCAATCCTCGCCAGACCCT	0.677													T	71513128	C	T	71513128	3	4	236	1	0	0	0	0	1	0	0	0	12744	893	31	1	1358	1	PTGER3	1	71513128	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	692264	71513128	177737493	44	119221											
C1orf173	127254	broad.mit.edu	37	chr1	75038995	75038995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgaacagctcctgctTctccccacagtgctgcctcc	6	19	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:75038995T>C	uc001dgg.2	-	14	2618	c.2399A>G	c.(2398-2400)GAA>GGA	p.E800G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	800	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGCTCCTGCTTCTCCCCACAG	0.522													C	75038995	T	C	75038995	3	2	236	1	0	0	0	0	1	0	0	0	2014	1783	62	3	2197	3	C1orf173	1	75038995	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	3525867	75038995	174211626	45	119222											
RABGGTB	5876	broad.mit.edu	37	chr1	76259888	76259888	+	Frame_Shift_Del	DEL	G	G	-													gcatgtcaagatgaagaaacGgggggatttgcagacaggcc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:76259887_76259887CG>C	uc001dgy.1	+	7	895	c.824_824CG>C	c.(823-825)acgfs	p.T275fs	MSH4_uc001dhd.2_5'Flank|RABGGTB_uc009wbt.1_Non-coding_Transcript|RABGGTB_uc001dhc.1_Non-coding_Transcript	NM_004582	NP_004573	P53611	PGTB2_HUMAN	Homo sapiens Rab geranylgeranyltransferase, beta subunit (RABGGTB), mRNA.	275					protein modification process|visual perception		Rab geranylgeranyltransferase activity|metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GATGAAGAAACGGGGGGATTT	0.388													-	76259888	G	-	76259888	7	5	236	1	0	1	0	1	0	0	0	0	12968	1103	39	0	855	0	RABGGTB	1	76259888	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1220893	76259888	172990733	46	119223											
COL24A1	255631	broad.mit.edu	37	chr1	86554903	86554903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattaatccagaaaggcctTgatcaccctataaacaaaat	4	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:86554903T>C	uc001dlj.2	-	7	1703	c.1661A>G	c.(1660-1662)CAA>CGA	p.Q554R	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q554R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	554	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGAAAGGCCTTGATCACCCTA	0.289													C	86554903	T	C	86554903	3	2	236	1	0	0	0	0	1	0	0	0	3683	1812	63	3	3699	3	COL24A1	1	86554903	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	10295015	86554903	162695718	47	119224											
VCAM1	7412	broad.mit.edu	37	chr1	101203814	101203814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggtcatatagtcttgTagaagcacagaagtcaaaag	12	5	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:101203814T>C	uc001dti.2	+	9	2315	c.2195T>C	c.(2194-2196)GTA>GCA	p.V732A	VCAM1_uc001dtj.2_Missense_Mutation_p.V640A|VCAM1_uc010ouj.1_Missense_Mutation_p.V670A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	732	Cytoplasmic (Potential).				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(1)	1		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)	TATAGTCTTGTAGAAGCACAG	0.378													C	101203814	T	C	101203814	3	2	236	1	0	0	0	0	1	0	0	0	17134	1638	57	3	2229	3	VCAM1	1	101203814	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	14648911	101203814	148046807	48	119225											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	236	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-F1-6874-01A-11D-1882-08	8166113	109369927	139880694	49	119226											
CELSR2	1952	broad.mit.edu	37	chr1	109810548	109810548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccctgctcctgcgcaacGccacgcagcacacagctggc	10	18	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:109810548G>A	uc001dxa.3	+	17	6245	c.6184G>A	c.(6184-6186)GCC>ACC	p.A2062T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2062	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		CCTGCGCAACGCCACGCAGCA	0.672													A	109810548	G	A	109810548	3	1	236	1	0	0	0	0	1	0	0	0	3222	1087	38	1	6250	1	CELSR2	1	109810548	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	440621	109810548	139440073	50	119227											
AMPD2	271	broad.mit.edu	37	chr1	110171328	110171328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcggctctccatttacGggcgctcgagggatgagtgg	16	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:110171328G>A	uc009wfh.1	+	13	2175	c.1633G>A	c.(1633-1635)GGG>AGG	p.G545R	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.G464R|AMPD2_uc001dyc.1_Missense_Mutation_p.G545R|AMPD2_uc010ovr.1_Missense_Mutation_p.G470R|AMPD2_uc001dyd.1_Missense_Mutation_p.G426R|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	545					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		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)		CTCCATTTACGGGCGCTCGAG	0.617													A	110171328	G	A	110171328	3	1	236	1	0	0	0	0	1	0	0	0	586	1116	39	1	1720	1	AMPD2	1	110171328	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	360780	110171328	139079293	51	119228											
SLC6A17	388662	broad.mit.edu	37	chr1	110734624	110734624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggacccccaggtgtggCgggaggcagctacccaggtc	16	13	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:110734624C>T	uc009wfq.2	+	7	1356	c.895C>T	c.(895-897)CGG>TGG	p.R299W	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	299	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		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)		CCAGGTGTGGCGGGAGGCAGC	0.542													T	110734624	C	T	110734624	3	4	236	1	0	0	0	0	1	0	0	0	14680	759	27	1	917	1	SLC6A17	1	110734624	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	563296	110734624	138515997	52	119229											
SLC22A15	55356	broad.mit.edu	37	chr1	116563380	116563380	+	Frame_Shift_Del	DEL	T	T	-													tatttgcaattgcaaatggaTtttccccctcatatgagttc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:116563379_116563379AT>A	uc001egb.4	+	3	601	c.471_471AT>A	c.(469-471)ggafs	p.G157fs	SLC22A15_uc001ega.2_Frame_Shift_Del_p.G157fs	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	157					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)		TTGCAAATGGATTTTCCCCCT	0.388											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	116563380	T	-	116563380	7	5	236	1	0	1	0	1	0	0	0	0	14446	1493	52	0	486	0	SLC22A15	1	116563380	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	5828756	116563380	132687241	53	119230											
ATP1A1	476	broad.mit.edu	37	chr1	116932304	116932304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcatcgtagccaatgtgcCggaaggtttgctggccactg	12	10	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:116932304C>T	uc001ege.2	+	8	1337	c.998C>T	c.(997-999)CCG>CTG	p.P333L	ATP1A1_uc010owv.1_Missense_Mutation_p.P302L|ATP1A1_uc010oww.1_Missense_Mutation_p.P333L|ATP1A1_uc010owx.1_Missense_Mutation_p.P302L	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	333	Helical; (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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)	GCCAATGTGCCGGAAGGTTTG	0.502													T	116932304	C	T	116932304	3	4	236	1	0	0	0	0	1	0	0	0	1128	652	23	1	1044	1	ATP1A1	1	116932304	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	368924	116932304	132318317	54	119231											
CD101	9398	broad.mit.edu	37	chr1	117560078	117560078	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggactcagaagatttcagTtactgtaaagtctctgggta	10	7	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:117560078T>A	uc010oxb.1	+	5	1653	c.1595T>A	c.(1594-1596)GTT>GAT	p.V532D	CD101_uc009whd.2_Missense_Mutation_p.V532D|CD101_uc010oxc.1_Missense_Mutation_p.V532D|CD101_uc010oxd.1_Missense_Mutation_p.V470D	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	532	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AAGATTTCAGTTACTGTAAAG	0.458													A	117560078	T	A	117560078	3	1	236	1	0	0	0	0	1	0	0	0	2962	1725	60	5	1613	5	CD101	1	117560078	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	627774	117560078	131690543	55	119232											
TRIM45	80263	broad.mit.edu	37	chr1	117656107	117656107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcacagtgaatggcgagcCctgcagtgttcagaccaaaa	10	11	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:117656107C>A	uc001egz.2	-	5	2056	c.1468G>T	c.(1468-1470)GGC>TGC	p.G490C	TRIM45_uc009whe.2_Missense_Mutation_p.G472C|TRIM45_uc001eha.2_Missense_Mutation_p.G386C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	490	Filamin.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	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)		AATGGCGAGCCCTGCAGTGTT	0.552													A	117656107	C	A	117656107	3	1	236	1	0	0	0	0	1	0	0	0	16517	637	22	5	282	5	TRIM45	1	117656107	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	96029	117656107	131594514	56	119233											
ADAM30	11085	broad.mit.edu	37	chr1	120438116	120438116	+	Frame_Shift_Del	DEL	T	T	-													caggcgagcatttaatacacTttttttatatattacaaatc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:120438115_120438115CT>C	uc001eij.3	-	0	1033	c.845_845AG>G	c.(844-846)agtfs	p.S282fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	282	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)		ATTTAATACACTTTTTTTATA	0.343													-	120438116	T	-	120438116	7	5	236	1	0	1	0	1	0	0	0	0	248	1609	56	0	1532	0	ADAM30	1	120438116	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	2782009	120438116	128812505	57	119234											
NOTCH2	4853	broad.mit.edu	37	chr1	120484286	120484286	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacactcattcatgtcTgtctggcacttatccccagt	6	14	5	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:120484286T>G	uc001eik.2	-	18	3100	c.2844A>C	c.(2842-2844)ACA>ACC	p.T948T	NOTCH2_uc001eil.2_Silent_p.T948T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	948	Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		CATTCATGTCTGTCTGGCACT	0.498			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				G	120484286	T	G	120484286	2	3	236	1	0	0	0	0	0	0	0	1	10548	1567	55	5		5	NOTCH2	1	120484286	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	46170	120484286	128766335	58	119235											
ITGA10	8515	broad.mit.edu	37	chr1	145532147	145532147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcagtcccatgggggccGacccgaggctgccaggctac	14	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:145532147G>A	uc001eoa.2	+	8	867	c.791G>A	c.(790-792)CGA>CAA	p.R264Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R133Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R121Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R209Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	264	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGGGGGCCGACCCGAGGCT	0.488													A	145532147	G	A	145532147	3	1	236	1	0	0	0	0	1	0	0	0	7873	1058	37	1	821	1	ITGA10	1	145532147	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	25047861	145532147	103718474	59	119236											
MTMR11	10903	broad.mit.edu	37	chr1	149903217	149903217	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgccacccactctcGctgtactagtgattggaagc	9	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:149903217G>A	uc001etl.3	-	13	1476	c.1225C>T	c.(1225-1227)CGA>TGA	p.R409*	SF3B4_uc001etk.1_5'Flank|MTMR11_uc001etm.1_Nonsense_Mutation_p.R337*|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.A235V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	409	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	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)			ACCCACTCTCGCTGTACTAGT	0.577													A	149903217	G	A	149903217	4	1	236	1	0	0	0	0	0	1	0	0	9940	1095	38	1	963	1	MTMR11	1	149903217	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4371070	149903217	99347404	60	119237											
C1orf54	79630	broad.mit.edu	37	chr1	150246562	150246562	+	Frame_Shift_Del	DEL	C	C	-													ggtctattattatacagtcaCccccagttatggtgagtaca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:150246561_150246561AC>A	uc001euc.3	+	2	181	c.118_118AC>A	c.(118-120)accfs	p.T40fs	C1orf54_uc001eud.3_Frame_Shift_Del_p.T40fs|C1orf54_uc001eue.3_Frame_Shift_Del_p.T40fs	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	Homo sapiens chromosome 1 open reading frame 54 (C1orf54), mRNA.	40						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	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)			TTATACAGTCACCCCCAGTTA	0.443													-	150246562	C	-	150246562	7	5	236	1	0	1	0	1	0	0	0	0	2046	507	18	0	125	0	C1orf54	1	150246562	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	343345	150246562	99004059	61	119238											
HORMAD1	84072	broad.mit.edu	37	chr1	150687103	150687104	+	Frame_Shift_Del	DEL	TG	TG	-													ttacttgccatttcactaacTgtgtagatcctgggcaattt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:150687102_150687103CTG>C	uc001evk.2	-	3	348_349	c.230_231CAG>G	c.(229-231)cagfs	p.Q77fs	HORMAD1_uc001evl.2_Frame_Shift_Del_p.Q77fs|HORMAD1_uc001evm.2_Intron	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	77	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)			atttcactaactgtgtagatcc	0.282													-	150687104	TG	-	150687103	7	5	236	1	0	1	0	1	0	0	0	0	7286	1580	55	0	1002	0	HORMAD1	1	150687103	Frame_Shift_Del	DEL	TG	TCGA-F1-6874-01A-11D-1882-08	440541	150687103	98563518	62	119239											
ZNF687	57592	broad.mit.edu	37	chr1	151261079	151261079	+	Frame_Shift_Del	DEL	C	C	-													agcgcatgcataagaatcgaCccccccatgtctgtcctgag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:151261079delC	uc001exq.2	+	3	2289	c.2191delC	c.(2191-2193)CCCfs	p.P731fs	ZNF687_uc009wmo.2_Frame_Shift_Del_p.P731fs|ZNF687_uc009wmp.2_Frame_Shift_Del_p.P731fs	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			TAAGAATCGACCCCCCCATGT	0.577													-	151261079	C	-	151261079	7	5	236	1	0	1	0	1	0	0	0	0	18089	507	18	0	2197	0	ZNF687	1	151261079	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	573976	151261079	97989542	63	119240											
POGZ	23126	broad.mit.edu	37	chr1	151378237	151378237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctacatccttaggtagggTgtgggccacagctcgccggg	15	11	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:151378237T>C	uc001eyd.1	-	19	3580	c.3274A>G	c.(3274-3276)ACC>GCC	p.T1092A	POGZ_uc001eye.1_Missense_Mutation_p.T1039A|POGZ_uc010pdb.1_Missense_Mutation_p.T1083A|POGZ_uc001eyf.1_Missense_Mutation_p.T1048A|POGZ_uc010pdc.1_Missense_Mutation_p.T1030A|POGZ_uc009wmv.1_Missense_Mutation_p.T997A|POGZ_uc010pdd.1_Missense_Mutation_p.T583A	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1092				TLPKDVAENAGLFIDF -> PTLLFCLFVFSSPSTL (in Ref. 4; BAB87117/BAE45744).	cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	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)			TTAGGTAGGGTGTGGGCCACA	0.517													C	151378237	T	C	151378237	3	2	236	1	0	0	0	0	1	0	0	0	12186	1696	59	3	962	3	POGZ	1	151378237	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	117158	151378237	97872384	64	119241											
LCE1C	353133	broad.mit.edu	37	chr1	152777634	152777634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgctggccactccccccGccacagcagctggagccccc	11	20	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:152777634G>A	uc001fap.1	-	2	372	c.321C>T	c.(319-321)GGC>GGT	p.G107G		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662													A	152777634	G	A	152777634	2	1	236	1	0	0	0	0	0	0	0	1	8661	1074	38	1		1	LCE1C	1	152777634	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1399397	152777634	96472987	65	119242											
RUSC1	23623	broad.mit.edu	37	chr1	155291851	155291851	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaggaagagggggctgcctCtccctcagacccaggctgct	15	13	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:155291851C>T	uc001fkj.2	+	2	516	c.287C>T	c.(286-288)TCT>TTT	p.S96F	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S96F|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	96						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	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)			GGGGCTGCCTCTCCCTCAGAC	0.632													T	155291851	C	T	155291851	3	4	236	1	0	0	0	0	1	0	0	0	13750	913	32	4	289	4	RUSC1	1	155291851	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2514217	155291851	93958770	66	119243											
YY1AP1	55249	broad.mit.edu	37	chr1	155646486	155646486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctgttcaaatagttcCttcgctatctgatgttgttc	7	9	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:155646486C>A	uc001fln.2	-	5	399	c.375G>T	c.(373-375)AAG>AAT	p.K125N	YY1AP1_uc010pgg.1_Translation_Start_Site|YY1AP1_uc010pgh.1_Missense_Mutation_p.K48N|YY1AP1_uc010pgi.1_Missense_Mutation_p.K197N|YY1AP1_uc001flh.2_Missense_Mutation_p.K197N|YY1AP1_uc009wqt.2_Missense_Mutation_p.K48N|YY1AP1_uc001flk.2_Missense_Mutation_p.K48N|YY1AP1_uc001fll.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqv.2_Translation_Start_Site|YY1AP1_uc001flm.2_Missense_Mutation_p.K48N|YY1AP1_uc001fli.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqu.2_Translation_Start_Site|YY1AP1_uc001flj.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqw.2_Missense_Mutation_p.K48N|YY1AP1_uc001flo.2_Translation_Start_Site|YY1AP1_uc001flp.2_Missense_Mutation_p.K59N|YY1AP1_uc010pgj.1_Missense_Mutation_p.K125N|YY1AP1_uc009wqx.2_Missense_Mutation_p.K197N|YY1AP1_uc010pgk.1_Missense_Mutation_p.K197N	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	125					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CAAATAGTTCCTTCGCTATCT	0.438													A	155646486	C	A	155646486	3	1	236	1	0	0	0	0	1	0	0	0	17505	680	24	5	2103	5	YY1AP1	1	155646486	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	354635	155646486	93604135	67	119244											
RXFP4	339403	broad.mit.edu	37	chr1	155911816	155911816	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgagtcggcactggactttCactggcccttcggaggtgcc	13	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:155911816C>A	uc010pgs.1	+	1	337	c.316C>A	c.(316-318)CAC>AAC	p.H106N		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	106	Extracellular (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACTGGACTTTCACTGGCCCTT	0.602													A	155911816	C	A	155911816	3	1	236	1	0	0	0	0	1	0	0	0	13762	826	29	5	318	5	RXFP4	1	155911816	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	265330	155911816	93338805	68	119245											
FCRL5	83416	broad.mit.edu	37	chr1	157494244	157494244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaaccagtacaggatTggggaggagcctctcagggc	14	8	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:157494244T>C	uc001fqu.2	-	10	2222	c.2064A>G	c.(2062-2064)CCA>CCG	p.P688P	FCRL5_uc009wsm.2_Silent_p.P688P|FCRL5_uc010phv.1_Silent_p.P688P|FCRL5_uc010phw.1_Silent_p.P603P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	688	Extracellular (Potential).|Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTACAGGATTGGGGAGGAGC	0.577													C	157494244	T	C	157494244	2	2	236	1	0	0	0	0	0	0	0	1	5798	1799	63	3		3	FCRL5	1	157494244	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1582428	157494244	91756377	69	119246											
OR6Y1	391112	broad.mit.edu	37	chr1	158517497	158517497	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgactgggtagcgtagtggAttacaaatggctacatagcg	13	6	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:158517497A>T	uc010pil.1	-	1	399	c.399T>A	c.(397-399)AAT>AAA	p.N133K		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGCGTAGTGGATTACAAATGG	0.468													T	158517497	A	T	158517497	3	4	236	1	0	0	0	0	1	0	0	0	11213	330	12	5	580	5	OR6Y1	1	158517497	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1023253	158517497	90733124	70	119247											
ATP1A4	480	broad.mit.edu	37	chr1	160146025	160146025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctctgcattgatctcGgcactgacatggtaagggcc	10	13	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:160146025G>A	uc001fve.3	+	16	2934	c.2455G>A	c.(2455-2457)GGC>AGC	p.G819S	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.G322S|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	819	Helical; (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTGATCTCGGCACTGACAT	0.522													A	160146025	G	A	160146025	3	1	236	1	0	0	0	0	1	0	0	0	1131	1116	39	1	2517	1	ATP1A4	1	160146025	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1628528	160146025	89104596	71	119248											
COPA	1314	broad.mit.edu	37	chr1	160265548	160265548	+	Frame_Shift_Del	DEL	A	A	-													ttgctggcaatggtgccttcAaaaaatcctttggatacagt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:160265547_160265547CA>C	uc001fvv.4	-	22	2876	c.2482_2482TG>G	c.(2482-2484)gaafs	p.E828fs	COPA_uc009wti.3_Frame_Shift_Del_p.E819fs	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	819					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)			ATGGTGCCTTCAAAAAATCCT	0.428													-	160265548	A	-	160265548	7	5	236	1	0	1	0	1	0	0	0	0	3727	127	5	0	1264	0	COPA	1	160265548	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	119523	160265548	88985073	72	119249											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017809	161017809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcccgggctagggccAcagcagcatcaaaggaaaga	15	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161017809A>G	uc001fxl.2	-	12	3348	c.3002T>C	c.(3001-3003)GTG>GCG	p.V1001A	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.V790A|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V847A|ARHGAP30_uc009wtx.2_Missense_Mutation_p.V674A	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	1001					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTAGGGCCACAGCAGCATC	0.607													G	161017809	A	G	161017809	3	3	236	1	0	0	0	0	1	0	0	0	879	159	6	3	307	3	ARHGAP30	1	161017809	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	752261	161017809	88232812	73	119250											
USP21	27005	broad.mit.edu	37	chr1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-													ctgcctcccgaggctccatcAaaaaaagttcagtaggtgta							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|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)			GAGGCTCCATCAAAAAAAGTT	0.517													-	161134660	A	-	161134660	7	5	236	1	0	1	0	1	0	0	0	0	17050	131	5	0	1458	0	USP21	1	161134660	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	116851	161134660	88115961	74	119251											
C1orf192	257177	broad.mit.edu	37	chr1	161334773	161334773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggatttggctggtctTtggggacctggagtatgacc	14	7	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161334773T>C	uc001gal.2	-	5	522	c.516A>G	c.(514-516)CAA>CAG	p.Q172Q		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	hypothetical protein LOC257177	172											0	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGCTGGTCTTTGGGGACCTG	0.522													C	161334773	T	C	161334773	2	2	236	1	0	0	0	0	0	0	0	1	2024	1838	64	3		3	C1orf192	1	161334773	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	200113	161334773	87915848	75	119252											
FCRLA	84824	broad.mit.edu	37	chr1	161681834	161681834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagaggtcagctgccCgcctcctcttctccttctac	7	19	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161681834C>T	uc001gbe.2	+	5	921	c.679C>T	c.(679-681)CGC>TGC	p.R227C	FCRLA_uc001gbd.2_Missense_Mutation_p.R221C|FCRLA_uc001gbf.2_Missense_Mutation_p.R132C|FCRLA_uc001gbg.2_Missense_Mutation_p.R81C|FCRLA_uc009wuo.2_Missense_Mutation_p.R87C|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	204	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GTCAGCTGCCCGCCTCCTCTT	0.562													T	161681834	C	T	161681834	3	4	236	1	0	0	0	0	1	0	0	0	5800	652	23	1	697	1	FCRLA	1	161681834	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	347061	161681834	87568787	76	119253											
SELP	6403	broad.mit.edu	37	chr1	169581513	169581513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcattgcaccacttcCggtccaactaatgcaaatcc	7	14	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:169581513C>T	uc001ggi.3	-	6	968	c.903G>A	c.(901-903)CCG>CCA	p.P301P	SELP_uc001ggh.2_Silent_p.P136P|SELP_uc009wvr.2_Silent_p.P301P	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	301	Extracellular (Potential).|Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCACCACTTCCGGTCCAACTA	0.507													T	169581513	C	T	169581513	2	4	236	1	0	0	0	0	0	0	0	1	14019	639	23	1		1	SELP	1	169581513	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7899679	169581513	79669108	77	119254											
PRRX1	5396	broad.mit.edu	37	chr1	170688909	170688909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaaagaagagaaagcagcGaaggaataggacaaccttca	10	6	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:170688909G>A	uc001ghf.2	+	2	331	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	PRRX1_uc001ghe.2_Missense_Mutation_p.R95Q	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	95	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAAGCAGCGAAGGAATAGG	0.458													A	170688909	G	A	170688909	3	1	236	1	0	0	0	0	1	0	0	0	12612	1058	37	1	290	1	PRRX1	1	170688909	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1107396	170688909	78561712	78	119255											
C1orf9	51430	broad.mit.edu	37	chr1	172569271	172569271	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caacatgacacagcttgtttCaaatttatcagcaacagtag	6	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:172569271C>T	uc001giq.3	+	20	3297	c.2981C>T	c.(2980-2982)TCA>TTA	p.S994L	C1orf9_uc010pmm.1_Missense_Mutation_p.S994L|C1orf9_uc009wwd.2_Missense_Mutation_p.S950L|C1orf9_uc010pmn.1_Missense_Mutation_p.S623L|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	994	Potential.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		CAGCTTGTTTCAAATTTATCA	0.403													T	172569271	C	T	172569271	3	4	236	1	0	0	0	0	1	0	0	0	2067	838	29	4	3059	4	C1orf9	1	172569271	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1880362	172569271	76681350	79	119256											
CACNA1E	777	broad.mit.edu	37	chr1	181732633	181732633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcagggctataccatacGcattttgctgtggacctttg	11	10	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:181732633G>A	uc001gow.2	+	34	4946	c.4781G>A	c.(4780-4782)CGC>CAC	p.R1594H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1482H|CACNA1E_uc001gox.1_Missense_Mutation_p.R820H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R820H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1594	Cytoplasmic (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TATACCATACGCATTTTGCTG	0.512													A	181732633	G	A	181732633	3	1	236	1	0	0	0	0	1	0	0	0	2542	1087	38	1	4915	1	CACNA1E	1	181732633	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	9163362	181732633	67517988	80	119257											
NCF2	4688	broad.mit.edu	37	chr1	183534904	183534904	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgggatgtcggactgcggaGagctttcctcctgaaggcaa	14	10	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:183534904G>T	uc001gqj.3	-	10	1210	c.935C>A	c.(934-936)TCT>TAT	p.S312Y	NCF2_uc010pod.1_Missense_Mutation_p.S267Y|NCF2_uc010poe.1_Missense_Mutation_p.S231Y|NCF2_uc001gqk.3_Missense_Mutation_p.S312Y	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	312					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						GGACTGCGGAGAGCTTTCCTC	0.592													T	183534904	G	T	183534904	3	4	236	1	0	0	0	0	1	0	0	0	10217	942	33	5	669	5	NCF2	1	183534904	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1802271	183534904	65715717	81	119258											
HMCN1	83872	broad.mit.edu	37	chr1	185962382	185962383	+	Frame_Shift_Del	DEL	TT	TT	-													ttcagatagtgggatgtatcTttgtgttgccacaaatattg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:185962381_185962382CTT>C	uc001grq.1	+	22	3674_3675	c.3445_3446CTT>C	c.(3445-3447)cttfs	p.L1149fs	HMCN1_uc001grr.1_Frame_Shift_Del_p.L490fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1149	Ig-like C2-type 8.				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						TGGGATGTATCTTTGTGTTGCC	0.416													-	185962383	TT	-	185962382	7	5	236	1	0	1	0	1	0	0	0	0	7220	1609	56	0	3536	0	HMCN1	1	185962382	Frame_Shift_Del	DEL	TT	TCGA-F1-6874-01A-11D-1882-08	2427478	185962382	63288239	82	119259											
HMCN1	83872	broad.mit.edu	37	chr1	186092099	186092099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagttcctccagtcattagCcctcatctaaaggaatatgt	6	10	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:186092099C>T	uc001grq.1	+	81	12475	c.12246C>T	c.(12244-12246)AGC>AGT	p.S4082S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4082	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAGTCATTAGCCCTCATCTAA	0.398													T	186092099	C	T	186092099	2	4	236	1	0	0	0	0	0	0	0	1	7220	738	26	2		2	HMCN1	1	186092099	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	129717	186092099	63158522	83	119260											
HMCN1	83872	broad.mit.edu	37	chr1	186097347	186097347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattaaataaaggagaacaGctacgattaagctgtaaagc	8	6	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:186097347G>T	uc001grq.1	+	83	13057	c.12828G>T	c.(12826-12828)CAG>CAT	p.Q4276H	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4276	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAGGAGAACAGCTACGATTAA	0.403													T	186097347	G	T	186097347	3	4	236	1	0	0	0	0	1	0	0	0	7220	962	34	5	13158	5	HMCN1	1	186097347	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5248	186097347	63153274	84	119261											
C1orf27	54953	broad.mit.edu	37	chr1	186368120	186368120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatattgaacacagttgctgAtcgttgtgaaatgctatttg	9	5	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:186368120A>G	uc001grw.2	+	11	1180	c.944A>G	c.(943-945)GAT>GGT	p.D315G	C1orf27_uc010poq.1_Missense_Mutation_p.D292G|C1orf27_uc010por.1_Missense_Mutation_p.D283G|OCLM_uc001gry.2_5'Flank	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	315						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1						ACAGTTGCTGATCGTTGTGAA	0.294													G	186368120	A	G	186368120	3	3	236	1	0	0	0	0	1	0	0	0	2036	333	12	3	982	3	C1orf27	1	186368120	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	270773	186368120	62882501	85	119262											
NEK7	140609	broad.mit.edu	37	chr1	198231732	198231732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaatggatgccaaagcaCgtgctgattgcatcaaagaa	9	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:198231732C>T	uc001gun.3	+	4	553	c.226C>T	c.(226-228)CGT>TGT	p.R76C		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	76	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						TGCCAAAGCACGTGCTGATTG	0.279													T	198231732	C	T	198231732	3	4	236	1	0	0	0	0	1	0	0	0	10329	536	19	1	236	1	NEK7	1	198231732	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	11863612	198231732	51018889	86	119263											
CACNA1S	779	broad.mit.edu	37	chr1	201022361	201022363	+	In_Frame_Del	DEL	GAA	GAA	-													atgccgatgacagcgtagatGaagaagagcatgacgatgag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:201022360_201022362TGAA>T	uc001gvv.3	-	30	4063_4065	c.3836_3838TTCA>A	c.(3835-3840)ttcatc>tAtc	p.1279_1280FI>Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1279					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)	ACAGCGTAGATGAAGAAGAGCAT	0.626													-	201022363	GAA	-	201022361	7	5	236	1	0	1	0	1	0	0	0	0	2547	1281	45	0	1840	0	CACNA1S	1	201022361	In_Frame_Del	DEL	GAA	TCGA-F1-6874-01A-11D-1882-08	2790629	201022361	48228260	87	119264											
ELF3	1999	broad.mit.edu	37	chr1	201981273	201981273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctggtctttgggcctctgGgggaccaactccatgcccag	13	13	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:201981273G>T	uc001gxg.3	+	2	3544	c.352G>T	c.(352-354)GGG>TGG	p.G118W	ELF3_uc001gxi.3_Missense_Mutation_p.G118W|ELF3_uc001gxh.3_Missense_Mutation_p.G118W	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	118	PNT.				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				0						TGGGCCTCTGGGGGACCAACT	0.607													T	201981273	G	T	201981273	3	4	236	1	0	0	0	0	1	0	0	0	5055	1232	43	5	358	5	ELF3	1	201981273	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	958912	201981273	47269348	88	119265											
ATP2B4	493	broad.mit.edu	37	chr1	203682345	203682345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagcttcgggtcctggcgcGatcttctcccactgacaagc	10	14	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:203682345G>A	uc001gzw.2	+	14	3148	c.2264G>A	c.(2263-2265)CGA>CAA	p.R755Q	ATP2B4_uc001gzv.2_Missense_Mutation_p.R755Q|ATP2B4_uc009xaq.2_Missense_Mutation_p.R755Q	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	755	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCTGGCGCGATCTTCTCCC	0.537													A	203682345	G	A	203682345	3	1	236	1	0	0	0	0	1	0	0	0	1142	1058	37	1	2314	1	ATP2B4	1	203682345	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1701072	203682345	45568276	89	119266											
SRGAP2	23380	broad.mit.edu	37	chr1	206628370	206628370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttgcaaacatcaacaAgtaagctctgcttttcattt	4	9	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:206628370A>G	uc001hdy.2	+	18	2579	c.2246A>G	c.(2245-2247)AAG>AGG	p.K749R	SRGAP2_uc001hdx.2_Missense_Mutation_p.K749R|SRGAP2_uc010pru.1_Missense_Mutation_p.K672R	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	836					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					AACATCAACAAGTAAGCTCTG	0.527													G	206628370	A	G	206628370	3	3	236	1	0	0	0	0	1	0	0	0	15145	86	3	3	2317	3	SRGAP2	1	206628370	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2946025	206628370	42622251	90	119267											
PFKFB2	5208	broad.mit.edu	37	chr1	207238492	207238492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaccgacctcttgacccaGacaactatgacaagtaaggt	7	13	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:207238492G>A	uc001hfg.2	+	8	728	c.619G>A	c.(619-621)GAC>AAC	p.D207N	PFKFB2_uc010psc.1_Missense_Mutation_p.D109N|PFKFB2_uc001hfh.2_Missense_Mutation_p.D207N|PFKFB2_uc009xcc.2_Missense_Mutation_p.D165N|PFKFB2_uc010psd.1_Missense_Mutation_p.D21N	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	207	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					TCTTGACCCAGACAACTATGA	0.453													A	207238492	G	A	207238492	3	1	236	1	0	0	0	0	1	0	0	0	11761	942	33	4	645	4	PFKFB2	1	207238492	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	610122	207238492	42012129	91	119268											
C1orf115	79762	broad.mit.edu	37	chr1	220869960	220869960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctaacactagaatgtcGggaaggtcatcatcaaagga	9	8	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:220869960G>A	uc001hmp.1	+	2	433	c.316G>A	c.(316-318)GGG>AGG	p.G106R		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	hypothetical protein LOC79762	106						integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0273)		CTAGAATGTCGGGAAGGTCAT	0.488													A	220869960	G	A	220869960	3	1	236	1	0	0	0	0	1	0	0	0	1988	1116	39	1	322	1	C1orf115	1	220869960	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	13631468	220869960	28380661	92	119269											
NVL	4931	broad.mit.edu	37	chr1	224455820	224455820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagctgattcaccactcGgacacttgcccctgtctaaa	7	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:224455820G>A	uc001hok.2	-	18	2141	c.2098C>T	c.(2098-2100)CGA>TGA	p.R700*	NVL_uc001hol.2_Nonsense_Mutation_p.R594*|NVL_uc010pvd.1_Nonsense_Mutation_p.R609*|NVL_uc010pve.1_Nonsense_Mutation_p.R511*|NVL_uc010pvf.1_Intron	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	700						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		TTCACCACTCGGACACTTGCC	0.398													A	224455820	G	A	224455820	4	1	236	1	0	0	0	0	0	1	0	0	10780	1124	39	1	496	1	NVL	1	224455820	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3585860	224455820	24794801	93	119270											
EPHX1	2052	broad.mit.edu	37	chr1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-													tccacttcatccacgtgaagCccccccagctgcccgcaggc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:226026383_226026383GC>G	uc001hpk.3	+	3	473	c.393_393GC>G	c.(391-393)aagfs	p.K131fs	EPHX1_uc001hpl.3_Frame_Shift_Del_p.K131fs	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGC	0.622													-	226026384	C	-	226026384	7	5	236	1	0	1	0	1	0	0	0	0	5179	739	26	0	404	0	EPHX1	1	226026384	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	1570564	226026384	23224237	94	119271											
CDC42BPA	8476	broad.mit.edu	37	chr1	227348291	227348291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaccaaaatctgctaaccGaatatgtccattcatatcca	4	11	2	1	rs35643738		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:227348291G>A	uc001hqr.2	-	6	1589	c.646C>T	c.(646-648)CGG>TGG	p.R216W	CDC42BPA_uc001hqs.2_Missense_Mutation_p.R216W|CDC42BPA_uc009xes.2_Missense_Mutation_p.R216W|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R216W	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	216	Protein kinase.				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			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGCTAACCGAATATGTCCA	0.294													A	227348291	G	A	227348291	3	1	236	1	0	0	0	0	1	0	0	0	3072	1057	37	1	4637	1	CDC42BPA	1	227348291	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1321907	227348291	21902330	95	119272											
JMJD4	65094	broad.mit.edu	37	chr1	227922492	227922492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtattcctggaccccacaGtttgcaactggtacaaccac	7	13	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:227922492G>A	uc001hrb.2	-	2	426	c.426C>T	c.(424-426)AAC>AAT	p.N142N	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Silent_p.N142N	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	142											0		Prostate(94;0.0885)				GGACCCCACAGTTTGCAACTG	0.537													A	227922492	G	A	227922492	2	1	236	1	0	0	0	0	0	0	0	1	7951	1020	36	4		4	JMJD4	1	227922492	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	574201	227922492	21328129	96	119273											
WNT9A	7483	broad.mit.edu	37	chr1	228111954	228111954	+	Frame_Shift_Del	DEL	C	C	-													acttaaggttgtctccgcagCccccccactgccaggcctca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228111953_228111953GC>G	uc001hri.2	-	2	589	c.501_501GC>C	c.(499-501)ggcfs	p.G167fs		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	167					Wnt receptor signaling pathway, calcium modulating pathway|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	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.G167fs*38(1)|p.C168fs*6(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)				TGTCTCCGCAGCCCCCCCACT	0.632													-	228111954	C	-	228111954	7	5	236	1	0	1	0	1	0	0	0	0	17395	739	26	0	605	0	WNT9A	1	228111954	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	189462	228111954	21138667	97	119274											
GUK1	2987	broad.mit.edu	37	chr1	228335202	228335202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaggccaccgatctgcGgcccatctacatctctgtgc	8	16	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228335202G>A	uc001hsh.2	+	6	650	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	GUK1_uc001hsi.2_Missense_Mutation_p.R137Q|GUK1_uc001hsj.2_Missense_Mutation_p.R56Q|GUK1_uc010pvv.1_Missense_Mutation_p.R116Q|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	116	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				ACCGATCTGCGGCCCATCTAC	0.657													A	228335202	G	A	228335202	3	1	236	1	0	0	0	0	1	0	0	0	6900	1116	39	1	428	1	GUK1	1	228335202	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	223248	228335202	20915419	98	119275											
OBSCN	84033	broad.mit.edu	37	chr1	228468013	228468013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgggatgcccctgtacaaCgacagcttccatgagatctc	9	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228468013C>T	uc009xez.1	+	29	7841	c.7797C>T	c.(7795-7797)AAC>AAT	p.N2599N	OBSCN_uc001hsn.2_Silent_p.N2599N|OBSCN_uc001hsp.1_Silent_p.N298N|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2599	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCCTGTACAACGACAGCTTCC	0.627													T	228468013	C	T	228468013	2	4	236	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228468013	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	132811	228468013	20782608	99	119276											
OBSCN	84033	broad.mit.edu	37	chr1	228564810	228564810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgggcgggcgctggcCgccaagatcatcccctacca	13	17	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228564810C>T	uc009xez.1	+	101	23141	c.23097C>T	c.(23095-23097)GCC>GCT	p.A7699A	OBSCN_uc001hsr.1_Silent_p.A2328A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7699	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGCGCTGGCCGCCAAGATCA	0.697													T	228564810	C	T	228564810	2	4	236	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228564810	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	96797	228564810	20685811	100	119277											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581405	232581405	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctctagagaggggctGcagggcaggagtgggcaccc	19	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:232581405G>A	uc001hvg.2	-	9	3381	c.3223C>T	c.(3223-3225)CAG>TAG	p.Q1075*	SIPA1L2_uc001hvf.2_Nonsense_Mutation_p.Q149*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1075					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAGAGGGGCTGCAGGGCAGGA	0.642													A	232581405	G	A	232581405	4	1	236	1	0	0	0	0	0	1	0	0	14330	1328	46	2	1997	2	SIPA1L2	1	232581405	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4016595	232581405	16669216	101	119278											
SLC35F3	148641	broad.mit.edu	37	chr1	234367256	234367256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagtcgccgctgctggaCgtgctcccgggcgcaactca	14	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:234367256C>T	uc001hwa.1	+	2	398	c.170C>T	c.(169-171)ACG>ATG	p.T57M	SLC35F3_uc001hvy.1_Missense_Mutation_p.T126M	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	57					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGCTGCTGGACGTGCTCCCGG	0.751													T	234367256	C	T	234367256	3	4	236	1	0	0	0	0	1	0	0	0	14590	536	19	1	387	1	SLC35F3	1	234367256	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1785851	234367256	14883365	102	119279											
RYR2	6262	broad.mit.edu	37	chr1	237923126	237923126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgggcttctttcagagCctggccggcctgatgcagtc	14	11	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:237923126C>T	uc001hyl.1	+	83	11496	c.11376C>T	c.(11374-11376)AGC>AGT	p.S3792S	RYR2_uc010pya.1_Silent_p.S207S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3792					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TCTTTCAGAGCCTGGCCGGCC	0.428													T	237923126	C	T	237923126	2	4	236	1	0	0	0	0	0	0	0	1	13769	738	26	2		2	RYR2	1	237923126	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3555870	237923126	11327495	103	119280											
FH	2271	broad.mit.edu	37	chr1	241680522	241680522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatcttaaagttcatcGtagatctcacggtctgggcg	9	11	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:241680522G>A	uc001hyx.2	-	2	259	c.227C>T	c.(226-228)ACG>ATG	p.T76M		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	76					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	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)		AAAGTTCATCGTAGATCTCAC	0.423			Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				A	241680522	G	A	241680522	3	1	236	1	0	0	0	0	1	0	0	0	5875	1145	40	1	1341	1	FH	1	241680522	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3757396	241680522	7570099	104	119281											
OR2G6	391211	broad.mit.edu	37	chr1	248685355	248685355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgctacatagccattatGcaccccaggttctgtgcgtc	9	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:248685355G>A	uc001ien.1	+	1	408	c.408G>A	c.(406-408)ATG>ATA	p.M136I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			TAGCCATTATGCACCCCAGGT	0.597													A	248685355	G	A	248685355	3	1	236	1	0	0	0	0	1	0	0	0	11000	1319	46	2	410	2	OR2G6	1	248685355	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	7004833	248685355	565266	105	119282											
SH3BP5L	80851	broad.mit.edu	37	chr1	249108743	249108743	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccacaaacaccatttctcGagcagcgttgtgcatgctta	8	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:249108743G>A	uc001iew.1	-	5	994	c.442C>T	c.(442-444)CGA>TGA	p.R148*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.R41*|SH3BP5L_uc010pzq.1_Nonsense_Mutation_p.R116*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.R29*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	148											0	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)			ACCATTTCTCGAGCAGCGTTG	0.602													A	249108743	G	A	249108743	4	1	236	1	0	0	0	0	0	1	0	0	14248	1066	37	1	751	1	SH3BP5L	1	249108743	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	423388	249108743	141878	106	119283											
TTC15	51112	broad.mit.edu	37	chr2	3392162	3392162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgctgtgcccgggacCgaggggcgccccgaacccgt	14	19	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:3392162C>T	uc002qxm.1	+	2	974	c.768C>T	c.(766-768)ACC>ACT	p.T256T	TTC15_uc002qxn.1_Silent_p.T256T|TTC15_uc010ewm.1_Silent_p.T256T|TTC15_uc002qxl.1_Silent_p.T256T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	256							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		TGCCCGGGACCGAGGGGCGCC	0.552													T	3392162	C	T	3392162	2	4	236	1	0	0	0	0	0	0	0	1	16679	639	23	1		1	TTC15	2	3392162	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08		3392162	239807211	107	119284											
ASAP2	8853	broad.mit.edu	37	chr2	9531279	9531279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgatcttcgtcagatccGccagctgtccatccaccgct	8	17	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:9531279G>A	uc002qzh.2	+	23	2812	c.2472G>A	c.(2470-2472)CCG>CCA	p.P824P	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	824	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CGTCAGATCCGCCAGCTGTCC	0.517													A	9531279	G	A	9531279	2	1	236	1	0	0	0	0	0	0	0	1	1011	1074	38	1		1	ASAP2	2	9531279	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6139117	9531279	233668094	108	119285											
ODC1	4953	broad.mit.edu	37	chr2	10582054	10582054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcactcgactcatcttcGtctagaaaggcagatcaaca	7	12	5	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:10582054G>A	uc010exg.1	-	10	1349	c.915C>T	c.(913-915)GAC>GAT	p.D305D	ODC1_uc002ran.1_Translation_Start_Site|ODC1_uc002rao.1_Silent_p.D305D|ODC1_uc010yjd.1_Silent_p.D175D	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	305					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	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)	ACTCATCTTCGTCTAGAAAGG	0.403													A	10582054	G	A	10582054	2	1	236	1	0	0	0	0	0	0	0	1	10825	1159	40	1		1	ODC1	2	10582054	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1050775	10582054	232617319	109	119286											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917839	10917839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagagagagagtgagggCgagggtgaggtaagcaacgc	20	4	0	5			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:10917839C>T	uc002ras.2	+	11	1063	c.954C>T	c.(952-954)GGC>GGT	p.G318G	ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	318					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGTGAGGGCGAGGGTGAGG	0.597													T	10917839	C	T	10917839	2	4	236	1	0	0	0	0	0	0	0	1	1181	755	27	1		1	ATP6V1C2	2	10917839	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	335785	10917839	232281534	110	119287											
KCNF1	3754	broad.mit.edu	37	chr2	11053303	11053303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaacaagctgcacttcGcgctgtccttcatgaacatt	6	15	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:11053303G>A	uc002rax.2	+	1	1241	c.751G>A	c.(751-753)GCG>ACG	p.A251T		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	251	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A251A(1)		ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCTGCACTTCGCGCTGTCCTT	0.612													A	11053303	G	A	11053303	3	1	236	1	0	0	0	0	1	0	0	0	8026	1087	38	1	753	1	KCNF1	2	11053303	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	135464	11053303	232146070	111	119288											
MYCN	4613	broad.mit.edu	37	chr2	16082320	16082320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccccgactcgaccccccCgggggaggacatctggaaga	14	16	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:16082320C>T	uc002rci.2	+	2	434	c.134C>T	c.(133-135)CCG>CTG	p.P45L	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.P37L	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	45					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	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)			TCGACCCCCCCGGGGGAGGAC	0.647			A		neuroblastoma								T	16082320	C	T	16082320	3	4	236	1	0	0	0	0	1	0	0	0	10021	652	23	1	136	1	MYCN	2	16082320	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5029017	16082320	227117053	112	119289											
HS1BP3	64342	broad.mit.edu	37	chr2	20845146	20845146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcttggccgacttgaacGcagccagacgggtcaccacc	12	14	1	2	rs149646332	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:20845146G>A	uc002rdw.1	-	2	193	c.152C>T	c.(151-153)GCG>GTG	p.A51V	HS1BP3_uc002rdx.2_Missense_Mutation_p.A51V|HS1BP3_uc002rdy.2_Missense_Mutation_p.A51V	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	51	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACTTGAACGCAGCCAGACG	0.647													A	20845146	G	A	20845146	3	1	236	1	0	0	0	0	1	0	0	0	7361	1087	38	1	1050	1	HS1BP3	2	20845146	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4762826	20845146	222354227	113	119290											
APOB	338	broad.mit.edu	37	chr2	21241915	21241915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggctctgtcctctcTctggagctcataggttgcgc	10	14	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:21241915T>C	uc002red.2	-	20	3198	c.3070A>G	c.(3070-3072)AGA>GGA	p.R1024G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1024					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGTCCTCTCTCTGGAGCTCA	0.468													C	21241915	T	C	21241915	3	2	236	1	0	0	0	0	1	0	0	0	785	1559	54	3	10661	3	APOB	2	21241915	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	396769	21241915	221957458	114	119291											
C2orf18	54978	broad.mit.edu	37	chr2	26999343	26999343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccactgcgggcagttggCactgagggtgtgtgtgggca	17	10	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:26999343C>T	uc002rhp.1	+	5	715	c.639C>T	c.(637-639)GGC>GGT	p.G213G	C2orf18_uc002rhq.1_Silent_p.G130G|C2orf18_uc010eyo.1_Silent_p.G160G|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	213						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCAGTTGGCACTGAGGGTG	0.582													T	26999343	C	T	26999343	2	4	236	1	0	0	0	0	0	0	0	1	2158	697	25	2		2	C2orf18	2	26999343	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5757428	26999343	216200030	115	119292											
SLC5A6	8884	broad.mit.edu	37	chr2	27424654	27424654	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagcccatgctggtcacgAtgctcccgatgccaatccag	11	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:27424654A>G	uc002rjd.2	-	14	1815	c.1424T>C	c.(1423-1425)ATC>ACC	p.I475T	SLC5A6_uc010eyv.1_Missense_Mutation_p.I475T	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	475	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCTGGTCACGATGCTCCCGAT	0.607													G	27424654	A	G	27424654	3	3	236	1	0	0	0	0	1	0	0	0	14669	333	12	3	499	3	SLC5A6	2	27424654	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	425311	27424654	215774719	116	119293											
CLIP4	79745	broad.mit.edu	37	chr2	29404513	29404513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggagcgtgaagctgcaCgaggggtctcaggtcctgct	17	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:29404513C>T	uc002rmv.2	+	16	2111	c.1872C>T	c.(1870-1872)CAC>CAT	p.H624H	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	624										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGAAGCTGCACGAGGGGTCTC	0.567													T	29404513	C	T	29404513	2	4	236	1	0	0	0	0	0	0	0	1	3535	535	19	1		1	CLIP4	2	29404513	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1979859	29404513	213794860	117	119294											
GALNT14	79623	broad.mit.edu	37	chr2	31215869	31215869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcgtcccagtcagcgtccGaaggctgcgtgacacgaatg	14	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:31215869G>A	uc002rnr.2	-	2	753	c.134C>T	c.(133-135)TCG>TTG	p.S45L	GALNT14_uc002rnq.2_Missense_Mutation_p.S25L|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.S10L|GALNT14_uc010ezo.1_Missense_Mutation_p.S45L|GALNT14_uc010ezp.1_Missense_Mutation_p.S16L	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	45	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTCAGCGTCCGAAGGCTGCGT	0.572													A	31215869	G	A	31215869	3	1	236	1	0	0	0	0	1	0	0	0	6212	1059	37	1	1580	1	GALNT14	2	31215869	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1811356	31215869	211983504	118	119295											
SLC30A6	55676	broad.mit.edu	37	chr2	32422847	32422847	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccatttgttttgattgatcTtgctggagcatttgctcttt	8	7	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:32422847T>A	uc002roe.1	+	10	654	c.617T>A	c.(616-618)CTT>CAT	p.L206H	SLC30A6_uc002rof.1_Missense_Mutation_p.L246H|SLC30A6_uc010ymw.1_Missense_Mutation_p.L177H|SLC30A6_uc010ezr.1_Missense_Mutation_p.L206H|SLC30A6_uc002rog.1_Missense_Mutation_p.L9H|SLC30A6_uc010ezs.1_Missense_Mutation_p.L132H|SLC30A6_uc002roh.1_Missense_Mutation_p.L9H	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	206	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGATTGATCTTGCTGGAGCA	0.343													A	32422847	T	A	32422847	3	1	236	1	0	0	0	0	1	0	0	0	14559	1609	56	5	655	5	SLC30A6	2	32422847	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1206978	32422847	210776526	119	119296											
EIF2AK2	5610	broad.mit.edu	37	chr2	37349801	37349801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcttttacttcacgctcCgccttcctagttaaaaggaa	6	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:37349801C>T	uc010ynh.1	-	12	1472	c.915G>A	c.(913-915)GCG>GCA	p.A305A	EIF2AK2_uc010fab.1_Silent_p.A264A|EIF2AK2_uc010yng.1_Silent_p.A305A|EIF2AK2_uc010fac.2_Silent_p.A305A|EIF2AK2_uc010fad.2_Intron	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	305	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				CTTCACGCTCCGCCTTCCTAG	0.413													T	37349801	C	T	37349801	2	4	236	1	0	0	0	0	0	0	0	1	4997	639	23	1		1	EIF2AK2	2	37349801	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4926954	37349801	205849572	120	119297											
TMEM178	130733	broad.mit.edu	37	chr2	39944243	39944243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttatagcctgcctgctgAtgtggaacatggttacagct	10	8	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:39944243A>G	uc002rrt.2	+	4	771	c.746A>G	c.(745-747)GAT>GGT	p.D249G	TMEM178_uc010fam.1_Missense_Mutation_p.D203G	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	249	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)				CTGCCTGCTGATGTGGAACAT	0.463													G	39944243	A	G	39944243	3	3	236	1	0	0	0	0	1	0	0	0	16092	333	12	3	760	3	TMEM178	2	39944243	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2594442	39944243	203255130	121	119298											
OXER1	165140	broad.mit.edu	37	chr2	42990086	42990086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccttttccagagagacctCgccctgcactttcagcttcc	6	16	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:42990086C>T	uc002rss.2	-	1	1316	c.1234G>A	c.(1234-1236)GAG>AAG	p.E412K		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	412	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						AGAGAGACCTCGCCCTGCACT	0.667													T	42990086	C	T	42990086	3	4	236	1	0	0	0	0	1	0	0	0	11331	893	31	1	41	1	OXER1	2	42990086	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3045843	42990086	200209287	122	119299											
PLEKHH2	130271	broad.mit.edu	37	chr2	43956822	43956822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggaagcaacaatgTaaacgttggatctgaatttg	11	6	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:43956822T>C	uc010yny.1	+	18	2851	c.2768T>C	c.(2767-2769)GTA>GCA	p.V923A	PLEKHH2_uc002rtf.3_Missense_Mutation_p.V922A	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	923						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCAACAATGTAAACGTTGGA	0.323													C	43956822	T	C	43956822	3	2	236	1	0	0	0	0	1	0	0	0	12077	1638	57	3	2834	3	PLEKHH2	2	43956822	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	966736	43956822	199242551	123	119300											
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					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)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	236	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-F1-6874-01A-11D-1882-08	593731	44550553	198648820	124	119301											
NRXN1	9378	broad.mit.edu	37	chr2	50280726	50280726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaagattgtgagctgacGccctgtaaaaataatattac	8	6	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:50280726G>A	uc010fbp.2	-	4	1423	c.616C>T	c.(616-618)CGT>TGT	p.R206C	NRXN1_uc002rxb.3_Missense_Mutation_p.R943C|NRXN1_uc010fbq.2_Missense_Mutation_p.R1311C|NRXN1_uc002rxe.3_Missense_Mutation_p.R1241C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	206	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGAGCTGACGCCCTGTAAAA	0.413													A	50280726	G	A	50280726	3	1	236	1	0	0	0	0	1	0	0	0	10665	1087	38	1	724	1	NRXN1	2	50280726	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5730173	50280726	192918647	125	119302											
NRXN1	9378	broad.mit.edu	37	chr2	51254941	51254942	+	Frame_Shift_Ins	INS	-	-	C													cgcgcagttccgggggcagcINScccccgacgaaaaggccgct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:51254940_51254941G>GC	uc021vhh.1	-	0	1392_1393	c.471_472C>GC	c.(469-474)gggctgfs	p.G157fs	NRXN1_uc021vhg.1_Frame_Shift_Ins_p.G157fs|NRXN1_uc021vhi.1_Frame_Shift_Ins_p.G157fs|NRXN1_uc021vhj.1_Frame_Shift_Ins_p.G157fs|NRXN1_uc021vhk.1_Frame_Shift_Ins_p.G157fs	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	157	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.I465fs*15(1)|p.V158V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCGGGGGCAGCCCCCCGACGA	0.658													C	51254942	-	C	51254941	7	5	236	1	0	1	1	0	0	0	0	0	10665	726	26	0	4527	0	NRXN1	2	51254941	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	974215	51254941	191944432	126	119303											
SPTBN1	6711	broad.mit.edu	37	chr2	54839322	54839322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccaccaagggacgaatgCgcatccactgcttagagaat	9	12	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:54839322C>T	uc002rxu.2	+	4	574	c.325C>T	c.(325-327)CGC>TGC	p.R109C	SPTBN1_uc002rxv.1_Missense_Mutation_p.R109C|SPTBN1_uc002rxx.2_Missense_Mutation_p.R96C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	109	CH 1.|Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GGGACGAATGCGCATCCACTG	0.512													T	54839322	C	T	54839322	3	4	236	1	0	0	0	0	1	0	0	0	15118	768	27	1	448	1	SPTBN1	2	54839322	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3584381	54839322	188360051	127	119304											
CCDC88A	55704	broad.mit.edu	37	chr2	55562112	55562112	+	Frame_Shift_Del	DEL	T	T	-													tctttataatgttccaattcTtttttaatttgtcttttttc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:55562112delT	uc002ryv.2	-	15	2687	c.1845delA	c.(1843-1845)AAAfs	p.K615fs	CCDC88A_uc010yoz.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.K517fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	615	Potential.				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			ovary(2)|skin(2)	4						GTTCCAATTCTTTTTTAATTT	0.254													-	55562112	T	-	55562112	7	5	236	1	0	1	0	1	0	0	0	0	2863	1606	56	0	3842	0	CCDC88A	2	55562112	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	722790	55562112	187637261	128	119305											
BCL11A	53335	broad.mit.edu	37	chr2	60688221	60688221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgaggccgactcgcccGgggagcagccgcggccatta	14	18	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:60688221G>A	uc002sae.1	-	4	2054	c.1826C>T	c.(1825-1827)CCG>CTG	p.P609L	BCL11A_uc002sab.2_Missense_Mutation_p.P609L|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.P278L|BCL11A_uc010ypj.1_Missense_Mutation_p.P575L|BCL11A_uc002sad.1_Missense_Mutation_p.P457L|BCL11A_uc002saf.1_Missense_Mutation_p.P575L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	609					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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGACTCGCCCGGGGAGCAGCC	0.667			T	IGH@	B-CLL								A	60688221	G	A	60688221	3	1	236	1	0	0	0	0	1	0	0	0	1363	1116	39	1	791	1	BCL11A	2	60688221	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5126109	60688221	182511152	129	119306											
TMEM17	200728	broad.mit.edu	37	chr2	62729851	62729851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagcatcataatgctgCtcacccaccacagtgggaaa	9	11	2	1	rs143642405		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:62729851C>A	uc002sbt.2	-	2	519	c.179G>T	c.(178-180)AGC>ATC	p.S60I	TMEM17_uc002sbu.2_Missense_Mutation_p.S60I|TMEM17_uc002sbv.1_Missense_Mutation_p.S35I	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	transmembrane protein 17	60	Helical; (Potential).					integral to membrane					0	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			CATAATGCTGCTCACCCACCA	0.363													A	62729851	C	A	62729851	3	1	236	1	0	0	0	0	1	0	0	0	16082	797	28	5	429	5	TMEM17	2	62729851	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2041630	62729851	180469522	130	119307											
FBXO48	554251	broad.mit.edu	37	chr2	68692195	68692195	+	Frame_Shift_Del	DEL	T	T	-													aaaagttgttttgactctcaTttttttccttctcagcatcc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:68692194_68692194AT>A	uc002seo.3	-	2	492	c.84_84AT>T	c.(82-84)aatfs	p.N28fs	APLF_uc010fdf.2_5'Flank|APLF_uc002sep.3_5'Flank	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	28										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTTGACTCTCATTTTTTTCCT	0.368													-	68692195	T	-	68692195	7	5	236	1	0	1	0	1	0	0	0	0	5757	1493	52	0	392	0	FBXO48	2	68692195	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	5962344	68692195	174507178	131	119308											
VAX2	25806	broad.mit.edu	37	chr2	71160174	71160174	+	Frame_Shift_Del	DEL	C	C	-													gctgtcctcggcctcagcgtCccccccactgccgccccctc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:71160173_71160173TC>T	uc002shh.3	+	2	744	c.712_712TC>T	c.(712-714)tccfs	p.S238fs	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	238					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGCCTCAGCGTCCCCCCCACT	0.692													-	71160174	C	-	71160174	7	5	236	1	0	1	0	1	0	0	0	0	17132	855	30	0	723	0	VAX2	2	71160174	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	2467979	71160174	172039199	132	119309											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71360643	71360644	+	Frame_Shift_Ins	INS	-	-	T													aggaggaggaagatattgatINSttttttgaagatattgattc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:71360642_71360643A>AT	uc002sht.2	+	1	1056_1057	c.704_705A>AT	c.(703-705)gatfs	p.D235fs	MPHOSPH10_uc010feb.1_Frame_Shift_Ins_p.D235fs	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	235					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAGATATTGATTTTTTTGAAG	0.347													T	71360644	-	T	71360643	7	5	236	1	0	1	1	0	0	0	0	0	9725	1490	52	0	711	0	MPHOSPH10	2	71360643	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	200469	71360643	171838730	133	119310											
FBXO41	150726	broad.mit.edu	37	chr2	73490893	73490893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttggacagtgggagatgCgcaggatcagcaggttcccc	15	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:73490893C>T	uc002sjb.1	-	8	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	663						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GTGGGAGATGCGCAGGATCAG	0.642													T	73490893	C	T	73490893	3	4	236	1	0	0	0	0	1	0	0	0	5750	768	27	1	663	1	FBXO41	2	73490893	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2130250	73490893	169708480	134	119311											
ALMS1	7840	broad.mit.edu	37	chr2	73799651	73799651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaataaagagcctcagCatcaatgtgaatttgggaaa	9	7	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:73799651C>T	uc002sje.1	+	18	10761	c.10650C>T	c.(10648-10650)AGC>AGT	p.S3550S	ALMS1_uc002sjf.1_Silent_p.S3506S|ALMS1_uc002sjg.2_Silent_p.S2936S|ALMS1_uc002sjh.1_Silent_p.S2936S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3548					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGAGCCTCAGCATCAATGTGA	0.363													T	73799651	C	T	73799651	2	4	236	1	0	0	0	0	0	0	0	1	535	709	25	2		2	ALMS1	2	73799651	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	308758	73799651	169399722	135	119312											
DUSP11	8446	broad.mit.edu	37	chr2	74007024	74007026	+	In_Frame_Del	DEL	CTT	CTT	-													tcggggatgtggtttccgccCttcttcttggctgaggagcg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:74007023_74007025CCTT>C	uc002sjp.3	-	0	260_262	c.218_220AAGG>G	c.(217-222)aagggc>aGgc	p.73_74KG>R	DUSP11_uc002sjq.4_In_Frame_Del_p.73_74KG>R	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	26					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TGGTTTCCGCCCTTCTTCTTGGC	0.606											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	74007026	CTT	-	74007024	7	5	236	1	0	1	0	1	0	0	0	0	4811	680	24	0	950	0	DUSP11	2	74007024	In_Frame_Del	DEL	CTT	TCGA-F1-6874-01A-11D-1882-08	207373	74007024	169192349	136	119313											
PROM2	150696	broad.mit.edu	37	chr2	95952596	95952596	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctggagtcctctgccccGaatctccaggtggctgctgt	12	15	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:95952596G>A	uc002suh.1	+	18	2218	c.2085G>A	c.(2083-2085)CCG>CCA	p.P695P	PROM2_uc002sui.2_Silent_p.P695P|PROM2_uc002suj.2_Silent_p.P349P|PROM2_uc002suk.2_Silent_p.P695P|PROM2_uc002sul.2_Silent_p.P221P|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	695	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CCTCTGCCCCGAATCTCCAGG	0.527													A	95952596	G	A	95952596	2	1	236	1	0	0	0	0	0	0	0	1	12556	1045	37	1		1	PROM2	2	95952596	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	21945572	95952596	147246777	137	119314											
EIF5B	9669	broad.mit.edu	37	chr2	99980750	99980750	+	Frame_Shift_Del	DEL	A	A	-													ataggaacgattggaacaagAaaaaagagaaaggaaaaagc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:99980749_99980749GA>G	uc002tab.3	+	5	1337	c.1153_1153GA>G	c.(1153-1155)gaafs	p.E385fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	385					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						ATTGGAACaagaaaaaagaga	0.308													-	99980750	A	-	99980750	7	5	236	1	0	1	0	1	0	0	0	0	5044	246	9	0	1176	0	EIF5B	2	99980750	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	4028154	99980750	143218623	138	119315											
AFF3	3899	broad.mit.edu	37	chr2	100623462	100623462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatctccaagcaaggtccTgagagagccctgttgtgctg	11	12	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:100623462T>C	uc002tag.2	-	6	741	c.505A>G	c.(505-507)AGG>GGG	p.R169G	AFF3_uc002taf.2_Missense_Mutation_p.R194G|AFF3_uc010fiq.1_Missense_Mutation_p.R169G|AFF3_uc010yvr.1_Missense_Mutation_p.R323G|AFF3_uc002tah.1_Missense_Mutation_p.R194G|AFF3_uc010fir.1_Missense_Mutation_p.R246G|AFF3_uc002tai.2_Missense_Mutation_p.R91G	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AGCAAGGTCCTGAGAGAGCCC	0.517													C	100623462	T	C	100623462	3	2	236	1	0	0	0	0	1	0	0	0	358	1579	55	3	3251	3	AFF3	2	100623462	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	642712	100623462	142575911	139	119316											
TBC1D8	11138	broad.mit.edu	37	chr2	101706808	101706808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaatccaacactgcatccAgagcgccgaccaggcgacct	10	15	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:101706808A>C	uc010fiv.2	-	2	277	c.146T>G	c.(145-147)CTG>CGG	p.L49R	TBC1D8_uc010yvw.1_Missense_Mutation_p.L49R	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	49					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CACTGCATCCAGAGCGCCGAC	0.537													C	101706808	A	C	101706808	3	2	236	1	0	0	0	0	1	0	0	0	15622	188	7	5	3352	5	TBC1D8	2	101706808	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1083346	101706808	141492565	140	119317											
SULT1C3	442038	broad.mit.edu	37	chr2	108872147	108872147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttatgagaaattcatgtcCggaaaaggtgagttcaaact	9	5	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:108872147C>T	uc010ywo.1	+	4	519	c.519C>T	c.(517-519)TCC>TCT	p.S173S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	173						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AATTCATGTCCGGAAAAGGTG	0.423													T	108872147	C	T	108872147	2	4	236	1	0	0	0	0	0	0	0	1	15375	639	23	1		1	SULT1C3	2	108872147	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7165339	108872147	134327226	141	119318											
EDAR	10913	broad.mit.edu	37	chr2	109513512	109513512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcctgccgtgctgatgcGgtcaaagagttgcatgccgt	14	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:109513512G>A	uc002teq.3	-	12	1629	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	EDAR_uc010fjn.2_Missense_Mutation_p.R432C|EDAR_uc010yws.1_Missense_Mutation_p.R432C	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	400	Death.|Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						GTGCTGATGCGGTCAAAGAGT	0.562													A	109513512	G	A	109513512	3	1	236	1	0	0	0	0	1	0	0	0	4905	1116	39	1	152	1	EDAR	2	109513512	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	641365	109513512	133685861	142	119319											
PROC	5624	broad.mit.edu	37	chr2	128186242	128186242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaagattcccgtggtccCgcacaatgagtgcagcgagg	12	12	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:128186242C>T	uc002tok.2	+	9	1179	c.1106C>T	c.(1105-1107)CCG>CTG	p.P369L	PROC_uc002tol.2_Missense_Mutation_p.P390L|PROC_uc010yzi.1_Missense_Mutation_p.P425L|PROC_uc010yzj.1_Missense_Mutation_p.P264L|PROC_uc010yzk.1_Missense_Mutation_p.P424L|PROC_uc002tom.2_Missense_Mutation_p.P403L	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	369	Peptidase S1.		P -> L (in ADPROCD; Osaka-6).		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				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCCGTGGTCCCGCACAATGAG	0.607													T	128186242	C	T	128186242	3	4	236	1	0	0	0	0	1	0	0	0	12545	652	23	1	1136	1	PROC	2	128186242	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	18672730	128186242	115013131	143	119320											
UGGT1	56886	broad.mit.edu	37	chr2	128861559	128861559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaattttgtagaagccaGtcaaaatattggatcatcag	9	5	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:128861559G>A	uc002tps.2	+	3	426	c.248G>A	c.(247-249)AGT>AAT	p.S83N	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Missense_Mutation_p.S59N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	83					'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			ovary(1)	1						GTAGAAGCCAGTCAAAATATT	0.303													A	128861559	G	A	128861559	3	1	236	1	0	0	0	0	1	0	0	0	16938	1029	36	4	258	4	UGGT1	2	128861559	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	675317	128861559	114337814	144	119321											
FAM123C	205147	broad.mit.edu	37	chr2	131521308	131521308	+	Frame_Shift_Del	DEL	G	G	-													agggcctggcctcagatgcaGggggggcgacagtttgctca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:131521308delG	uc002trw.2	+	2	1853	c.1663delG	c.(1663-1665)GGGfs	p.G555fs	FAM123C_uc010fmv.2_Frame_Shift_Del_p.G555fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G555fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G555fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G555fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	555										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCAGATGCAGGGGGGGCGAC	0.711													-	131521308	G	-	131521308	7	5	236	1	0	1	0	1	0	0	0	0	5424	1000	35	0	1665	0	FAM123C	2	131521308	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	2659749	131521308	111678065	145	119322											
NCKAP5	344148	broad.mit.edu	37	chr2	133971293	133971293	+	Frame_Shift_Del	DEL	C	C	-													gcagtcaggacttaccatggCcccctcacttgttctttggg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:133971293delC	uc002ttp.2	-	5	576	c.202delG	c.(202-204)GCCfs	p.A68fs	NCKAP5_uc002ttq.2_Frame_Shift_Del_p.A68fs|NCKAP5_uc002ttt.1_Frame_Shift_Del_p.A68fs|NCKAP5_uc002tts.1_Frame_Shift_Del_p.A43fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	68							protein binding				0						CTTACCATGGCCCCCTCACTT	0.473													-	133971293	C	-	133971293	7	5	236	1	0	1	0	1	0	0	0	0	10223	739	26	0	5591	0	NCKAP5	2	133971293	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	2449985	133971293	109228080	146	119323											
NEB	4703	broad.mit.edu	37	chr2	152521935	152521935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttctcggggtgctggCgatacttcttctcactaaga	10	11	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:152521935C>T	uc010fnx.2	-	42	5341	c.5150G>A	c.(5149-5151)CGC>CAC	p.R1717H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1717	Nebulin 44.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGGTGCTGGCGATACTTCTT	0.488													T	152521935	C	T	152521935	3	4	236	1	0	0	0	0	1	0	0	0	10302	768	27	1	21100	1	NEB	2	152521935	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	18550642	152521935	90677438	147	119324											
ACVR1	90	broad.mit.edu	37	chr2	158655948	158655948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtcacttaccttccatacTaggggaggggagagcaatca	12	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:158655948T>C	uc002tzm.3	-	4	397	c.58A>G	c.(58-60)AGT>GGT	p.S20G	ACVR1_uc002tzn.3_Missense_Mutation_p.S20G|ACVR1_uc010fog.2_Missense_Mutation_p.S20G	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	20					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCTTCCATACTAGGGGAGGGG	0.328													C	158655948	T	C	158655948	3	2	236	1	0	0	0	0	1	0	0	0	220	1522	53	3	1507	3	ACVR1	2	158655948	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	6134013	158655948	84543425	148	119325											
PLA2R1	22925	broad.mit.edu	37	chr2	160813055	160813055	+	Frame_Shift_Del	DEL	C	C	-													ctttcaatggcgaccagggtCcccccttcttcagcacagaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:160813055delC	uc002ube.1	-	21	3195	c.2988delG	c.(2986-2988)GGGfs	p.G996fs	PLA2R1_uc010zcp.1_Frame_Shift_Del_p.G996fs|PLA2R1_uc002ubf.2_Frame_Shift_Del_p.G996fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	996	Extracellular (Potential).|C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						CGACCAGGGTCCCCCCTTCTT	0.433													-	160813055	C	-	160813055	7	5	236	1	0	1	0	1	0	0	0	0	12010	842	30	0	1451	0	PLA2R1	2	160813055	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	2157107	160813055	82386318	149	119326											
COBLL1	22837	broad.mit.edu	37	chr2	165551084	165551084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcagcaggagcctgacCgatgacatcatcatcagttt	10	11	4	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:165551084C>T	uc010zcw.1	-	15	3257	c.3133G>A	c.(3133-3135)GGT>AGT	p.G1045S	COBLL1_uc002ucp.2_Missense_Mutation_p.G978S|COBLL1_uc002ucq.2_Missense_Mutation_p.G940S|COBLL1_uc010zcx.1_Missense_Mutation_p.G986S|COBLL1_uc002ucn.2_Missense_Mutation_p.G406S|COBLL1_uc002uco.2_Missense_Mutation_p.G709S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	1016										ovary(2)|pancreas(1)	3						GGAGCCTGACCGATGACATCA	0.473													T	165551084	C	T	165551084	3	4	236	1	0	0	0	0	1	0	0	0	3654	652	23	1	580	1	COBLL1	2	165551084	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4738029	165551084	77648289	150	119327											
XIRP2	129446	broad.mit.edu	37	chr2	167760304	167760304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggattccctgagcagtcgGcgcaggattgaacgcttttc	13	10	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:167760304G>A	uc002udx.2	+	1	330	c.312G>A	c.(310-312)CGG>CGA	p.R104R	XIRP2_uc010fpn.2_Silent_p.R104R|XIRP2_uc010fpo.2_Silent_p.R104R|XIRP2_uc010fpp.2_Silent_p.R104R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGAGCAGTCGGCGCAGGATTG	0.512													A	167760304	G	A	167760304	2	1	236	1	0	0	0	0	0	0	0	1	17427	1190	42	2		2	XIRP2	2	167760304	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2209220	167760304	75439069	151	119328											
SLC25A12	8604	broad.mit.edu	37	chr2	172650198	172650198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgctgactctgggtcccGtggtgatctctccagctact	13	13	2	2	rs138477378	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:172650198G>A	uc002uhh.2	-	14	1474	c.1385C>T	c.(1384-1386)ACG>ATG	p.T462M	SLC25A12_uc010fqh.2_Missense_Mutation_p.T355M	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	462	Solcar 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCTGGGTCCCGTGGTGATCTC	0.473													A	172650198	G	A	172650198	3	1	236	1	0	0	0	0	1	0	0	0	14474	1145	40	1	671	1	SLC25A12	2	172650198	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4889894	172650198	70549175	152	119329											
EVX2	344191	broad.mit.edu	37	chr2	176948324	176948324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggggagttctcccagagCgctgtgcaggggggcagacg	20	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:176948324C>T	uc010zeu.1	-	1	367	c.181G>A	c.(181-183)GCT>ACT	p.A61T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	61						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTCCCAGAGCGCTGTGCAGG	0.607													T	176948324	C	T	176948324	3	4	236	1	0	0	0	0	1	0	0	0	5295	768	27	1	1259	1	EVX2	2	176948324	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4298126	176948324	66251049	153	119330											
PDE11A	50940	broad.mit.edu	37	chr2	178879182	178879182	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgatttcatcattgaatcgTcgatcctaaaaataagacaa	5	8	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:178879182T>G	uc002ulq.2	-	2	1236	c.918A>C	c.(916-918)CGA>CGC	p.R306R	PDE11A_uc002ulr.2_Silent_p.R56R|PDE11A_uc002ult.1_Silent_p.R56R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	306	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATTGAATCGTCGATCCTAAA	0.398									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				G	178879182	T	G	178879182	2	3	236	1	0	0	0	0	0	0	0	1	11631	1654	58	5		5	PDE11A	2	178879182	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1930858	178879182	64320191	154	119331											
TTN	7273	broad.mit.edu	37	chr2	179395856	179395856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcacttgtcctttacgcagCcaggtcacagttggtaccgg	11	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179395856C>A	uc010zfg.1	-	307	98006	c.97782G>T	c.(97780-97782)TGG>TGT	p.W32594C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W26289C|TTN_uc010zfi.1_Missense_Mutation_p.W26222C|TTN_uc010zfj.1_Missense_Mutation_p.W26097C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33521							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTACGCAGCCAGGTCACAG	0.512													A	179395856	C	A	179395856	3	1	236	1	0	0	0	0	1	0	0	0	16732	740	26	5	2513	5	TTN	2	179395856	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	516674	179395856	63803517	155	119332											
TTN	7273	broad.mit.edu	37	chr2	179446658	179446658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccgagcataagcggcCttggatgcgtcactgggttt	15	10	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179446658C>A	uc010zfg.1	-	264	58958	c.58734G>T	c.(58732-58734)AAG>AAT	p.K19578N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K13273N|TTN_uc010zfi.1_Missense_Mutation_p.K13206N|TTN_uc010zfj.1_Missense_Mutation_p.K13081N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20505							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATAAGCGGCCTTGGATGCGT	0.443													A	179446658	C	A	179446658	3	1	236	1	0	0	0	0	1	0	0	0	16732	680	24	5	41733	5	TTN	2	179446658	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	50802	179446658	63752715	156	119333											
TTN	7273	broad.mit.edu	37	chr2	179485026	179485026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggcaggagaagacagCgtcatcgaactcagtgactg	14	9	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179485026C>T	uc010zfg.1	-	197	38742	c.38518G>A	c.(38518-38520)GCT>ACT	p.A12840T	TTN_uc010zfh.1_Missense_Mutation_p.A6535T|TTN_uc010zfi.1_Missense_Mutation_p.A6468T|TTN_uc010zfj.1_Missense_Mutation_p.A6343T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13767							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGAAGACAGCGTCATCGAAC	0.428													T	179485026	C	T	179485026	3	4	236	1	0	0	0	0	1	0	0	0	16732	768	27	1	61931	1	TTN	2	179485026	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	38368	179485026	63714347	157	119334											
TTN	7273	broad.mit.edu	37	chr2	179596909	179596909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttagaactgcagtagacTccacaaaagacattctgtgt	8	9	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179596909T>C	uc010zfg.1	-	54	13279	c.13055A>G	c.(13054-13056)GAG>GGG	p.E4352G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1013G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5279							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGTAGACTCCACAAAAGA	0.438													C	179596909	T	C	179596909	3	2	236	1	0	0	0	0	1	0	0	0	16732	1551	54	3	87966	3	TTN	2	179596909	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	111883	179596909	63602464	158	119335											
TTN	7273	broad.mit.edu	37	chr2	179611344	179611344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagctctttgcttccccTatgatgtttacagcatgaca	7	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179611344T>C	uc002unb.2	-	46	16007	c.15783A>G	c.(15781-15783)ATA>ATG	p.I5261M	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTTCCCCTATGATGTTTA	0.428													C	179611344	T	C	179611344	3	2	236	1	0	0	0	0	1	0	0	0	16732	1512	53	3	94514	3	TTN	2	179611344	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	14435	179611344	63588029	159	119336											
SSFA2	6744	broad.mit.edu	37	chr2	182763754	182763754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtagcaataatatcttgGccaaagagagaagattacag	9	6	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:182763754G>A	uc002uoi.2	+	6	740	c.418G>A	c.(418-420)GCC>ACC	p.A140T	SSFA2_uc002uoh.2_Missense_Mutation_p.A140T|SSFA2_uc002uoj.2_Missense_Mutation_p.A140T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	140						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAATATCTTGGCCAAAGAGAG	0.308													A	182763754	G	A	182763754	3	1	236	1	0	0	0	0	1	0	0	0	15182	1203	42	2	440	2	SSFA2	2	182763754	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3152410	182763754	60435619	160	119337											
ANKAR	150709	broad.mit.edu	37	chr2	190541315	190541316	+	Frame_Shift_Ins	INS	-	-	T													tacaaagaaatgcatctgctINSttttttgaaaaatatgatcg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:190541314_190541315C>CT	uc002uqw.2	+	1	186_187	c.98_99C>CT	c.(97-99)gctfs	p.A33fs	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqv.1_Frame_Shift_Ins_p.A33fs	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	33						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)			AATGCATCTGCTTTTTTTGAAA	0.381													T	190541316	-	T	190541315	7	5	236	1	0	1	1	0	0	0	0	0	623	1596	56	0	101	0	ANKAR	2	190541315	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	7777561	190541315	52658058	161	119338											
GTF3C3	9330	broad.mit.edu	37	chr2	197645348	197645348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcactgtgatatctattgGcacgccatcaggtatagtgc	9	10	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:197645348G>A	uc002uts.2	-	9	1243	c.1153C>T	c.(1153-1155)CCA>TCA	p.P385S	GTF3C3_uc010zgu.1_Missense_Mutation_p.P385S|GTF3C3_uc002utu.2_Missense_Mutation_p.P385S|GTF3C3_uc002utt.3_Missense_Mutation_p.P60S	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	385						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						ATATCTATTGGCACGCCATCA	0.403													A	197645348	G	A	197645348	3	1	236	1	0	0	0	0	1	0	0	0	6874	1203	42	2	1547	2	GTF3C3	2	197645348	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	7104033	197645348	45554025	162	119339											
MARS2	92935	broad.mit.edu	37	chr2	198571290	198571290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgggactgtgactactaTgatgaaaaggtggttaagtt	12	4	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:198571290T>C	uc002uuq.2	+	1	1204	c.1161T>C	c.(1159-1161)TAT>TAC	p.Y387Y	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	387					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GTGACTACTATGATGAAAAGG	0.517													C	198571290	T	C	198571290	2	2	236	1	0	0	0	0	0	0	0	1	9317	1471	51	3		3	MARS2	2	198571290	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	925942	198571290	44628083	163	119340											
BMPR2	659	broad.mit.edu	37	chr2	203332384	203332384	+	Frame_Shift_Del	DEL	T	T	-													aatgtcaactttactgagaaTtttccacctcctgacacaac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:203332384delT	uc002uzf.3	+	3	1538	c.390delT	c.(388-390)AATfs	p.N130fs	BMPR2_uc010ftr.2_Frame_Shift_Del_p.N130fs|BMPR2_uc002uze.2_Frame_Shift_Del_p.N130fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	130	Extracellular (Potential).				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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TTACTGAGAATTTTCCACCTC	0.343													-	203332384	T	-	203332384	7	5	236	1	0	1	0	1	0	0	0	0	1471	1490	52	0	400	0	BMPR2	2	203332384	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	4761094	203332384	39866989	164	119341											
BMPR2	659	broad.mit.edu	37	chr2	203384918	203384918	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcacacagaattaccaCgaggaggtaagatagtcaat	8	8	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:203384918C>T	uc002uzf.3	+	7	2109	c.961C>T	c.(961-963)CGA>TGA	p.R321*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.R321*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	321	Protein kinase.|Cytoplasmic (Potential).				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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						AGAATTACCACGAGGAGGTAA	0.358													T	203384918	C	T	203384918	4	4	236	1	0	0	0	0	0	1	0	0	1471	528	19	1	987	1	BMPR2	2	203384918	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	52534	203384918	39814455	165	119342											
FAM117B	150864	broad.mit.edu	37	chr2	203622055	203622055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggaagcaacaacagcagCcgttcccagtccgtgtcccc	11	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:203622055C>T	uc010zhx.1	+	6	1234	c.1224C>T	c.(1222-1224)AGC>AGT	p.S408S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	408										ovary(1)	1						ACAACAGCAGCCGTTCCCAGT	0.582													T	203622055	C	T	203622055	2	4	236	1	0	0	0	0	0	0	0	1	5410	738	26	2		2	FAM117B	2	203622055	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	237137	203622055	39577318	166	119343											
PARD3B	117583	broad.mit.edu	37	chr2	206166298	206166299	+	Frame_Shift_Ins	INS	-	-	A													aaataaagccaggaaagtcaINSaaaaaacgaaagagaaggag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:206166297_206166298C>CA	uc002var.2	+	17	2709_2710	c.2502_2503C>CA	c.(2500-2505)gtcaaafs	p.V834fs	PARD3B_uc010fub.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vao.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vap.2_Frame_Shift_Ins_p.V772fs|PARD3B_uc002vaq.2_Frame_Shift_Ins_p.V765fs	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	834	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction		p.T776fs*13(1)		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)		CCAGGAAAGTCAAAAAAACgaa	0.426													A	206166299	-	A	206166298	7	5	236	1	0	1	1	0	0	0	0	0	11444	131	5	0	2573	0	PARD3B	2	206166298	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	2544243	206166298	37033075	167	119344											
ZDBF2	57683	broad.mit.edu	37	chr2	207171079	207171079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacctgaaaggtagacaAgtccacctaaaacataagaa	7	8	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:207171079A>C	uc002vbp.2	+	5	2077	c.1827A>C	c.(1825-1827)CAA>CAC	p.Q609H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	609							nucleic acid binding|zinc ion binding			ovary(3)	3						AAGGTAGACAAGTCCACCTAA	0.428													C	207171079	A	C	207171079	3	2	236	1	0	0	0	0	1	0	0	0	17596	69	3	5	1837	5	ZDBF2	2	207171079	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1004781	207171079	36028294	168	119345											
MDH1B	130752	broad.mit.edu	37	chr2	207619812	207619812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgccacagcaataatgttGtgtgcaatgcgtggggcata	13	8	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:207619812G>A	uc002vbs.2	-	5	886	c.831C>T	c.(829-831)CAC>CAT	p.H277H	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.H277H|MDH1B_uc010fuj.2_Silent_p.H179H|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	277					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAATAATGTTGTGTGCAATGC	0.468													A	207619812	G	A	207619812	2	1	236	1	0	0	0	0	0	0	0	1	9409	1368	48	4		4	MDH1B	2	207619812	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	448733	207619812	35579561	169	119346											
C2orf67	151050	broad.mit.edu	37	chr2	210887679	210887680	+	Frame_Shift_Ins	INS	-	-	T													aacctgttccctgtcacctaINSttttttttaacattagtaag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:210887679_210887680insT	uc002vds.2	-	15	3165_3166	c.2957_2958insA	c.(2956-2958)AATfs	p.N986fs	C2orf67_uc002vdt.2_Frame_Shift_Ins_p.N944fs	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	986										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		CCTGTCACCTATTTTTTTTAAC	0.416													T	210887680	-	T	210887679	7	5	236	1	0	1	1	0	0	0	0	0	2186	446	16	0	9	0	C2orf67	2	210887679	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	3267867	210887679	32311694	170	119347											
CPS1	1373	broad.mit.edu	37	chr2	211471488	211471488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctcctgcccagacacTctccaatgccgagtttcaga	9	14	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:211471488T>C	uc002vee.3	+	18	2147	c.2015T>C	c.(2014-2016)CTC>CCC	p.L672P	CPS1_uc010fur.2_Missense_Mutation_p.L678P|CPS1_uc010fus.2_Missense_Mutation_p.L221P	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	672	ATP-grasp 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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCCAGACACTCTCCAATGCC	0.448													C	211471488	T	C	211471488	3	2	236	1	0	0	0	0	1	0	0	0	3823	1551	54	3	2107	3	CPS1	2	211471488	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	583809	211471488	31727885	171	119348											
ERBB4	2066	broad.mit.edu	37	chr2	212286760	212286760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaggtatctttgagggtctCgagccatccttgaaaactca	9	10	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:212286760C>T	uc002veg.1	-	24	3034	c.2936G>A	c.(2935-2937)CGA>CAA	p.R979Q	ERBB4_uc002veh.1_Missense_Mutation_p.R979Q|ERBB4_uc010zji.1_Missense_Mutation_p.R969Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R969Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	979	Protein kinase.|Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		TTGAGGGTCTCGAGCCATCCT	0.403										TSP Lung(8;0.080)			T	212286760	C	T	212286760	3	4	236	1	0	0	0	0	1	0	0	0	5209	884	31	1	1010	1	ERBB4	2	212286760	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	815272	212286760	30912613	172	119349											
SPAG16	79582	broad.mit.edu	37	chr2	215274982	215274982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacggttgtgttttctcaCgacggggagattctcttttc	10	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:215274982C>T	uc002veq.2	+	16	1931	c.1839C>T	c.(1837-1839)CAC>CAT	p.H613H	SPAG16_uc002ver.2_Silent_p.H559H|SPAG16_uc010zjk.1_Silent_p.H519H|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	613	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		TGTTTTCTCACGACGGGGAGA	0.502													T	215274982	C	T	215274982	2	4	236	1	0	0	0	0	0	0	0	1	14978	535	19	1		1	SPAG16	2	215274982	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2988222	215274982	27924391	173	119350											
TNS1	7145	broad.mit.edu	37	chr2	218713077	218713077	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtggccaggctgggtgGggcccctccctctggtagcc	17	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:218713077G>T	uc002vgt.2	-	17	2186	c.1788C>A	c.(1786-1788)CCC>CCA	p.P596P	TNS1_uc002vgr.2_Silent_p.P596P|TNS1_uc002vgs.2_Silent_p.P596P|TNS1_uc010zjv.1_Silent_p.P596P|TNS1_uc010fvj.1_Silent_p.P664P|TNS1_uc010fvk.1_Silent_p.P721P|TNS1_uc010fvi.1_Silent_p.P283P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	596						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		AGGCTGGGTGGGGCCCCTCCC	0.667													T	218713077	G	T	218713077	2	4	236	1	0	0	0	0	0	0	0	1	16340	1219	43	5		5	TNS1	2	218713077	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3438095	218713077	24486296	174	119351											
CXCR2	3579	broad.mit.edu	37	chr2	218999632	218999632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccttttctactagatgcCgccccatgtgaaccagaatc	6	16	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:218999632C>T	uc002vgz.1	+	4	333	c.108C>T	c.(106-108)GCC>GCT	p.A36A	CXCR2_uc002vha.1_Silent_p.A36A|CXCR2_uc002vhb.1_Silent_p.A36A	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	36	Extracellular (Potential).				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			lung(1)|breast(1)	2						TACTAGATGCCGCCCCATGTG	0.448													T	218999632	C	T	218999632	2	4	236	1	0	0	0	0	0	0	0	1	4091	639	23	1		1	CXCR2	2	218999632	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	286555	218999632	24199741	175	119352											
C2orf62	375307	broad.mit.edu	37	chr2	219227555	219227555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggtgatggcctggcGgcggatggtgcccagcaatg	18	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:219227555G>A	uc002vhr.2	+	6	589	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	187											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCCTGGCGGCGGATGGTG	0.587													A	219227555	G	A	219227555	3	1	236	1	0	0	0	0	1	0	0	0	2181	1116	39	1	582	1	C2orf62	2	219227555	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	227923	219227555	23971818	176	119353											
RNF25	64320	broad.mit.edu	37	chr2	219529955	219529955	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgcacactggacactGcacaccgactgccttctaaa	6	16	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:219529955G>A	uc002vit.2	-	8	677	c.589C>T	c.(589-591)CAG>TAG	p.Q197*	RNF25_uc010fvw.2_Nonsense_Mutation_p.Q85*	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	197	RING-type.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGGACACTGCACACCGACT	0.522													A	219529955	G	A	219529955	4	1	236	1	0	0	0	0	0	1	0	0	13485	1328	46	2	802	2	RNF25	2	219529955	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	302400	219529955	23669418	177	119354											
CRYBA2	1412	broad.mit.edu	37	chr2	219857874	219857874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaggctggcgggcgccgGgcccggcgcgggggcgctgc	23	14	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:219857874G>A	uc002vjj.1	-	2	60	c.25C>T	c.(25-27)CCG>TCG	p.P9S	CRYBA2_uc002vjk.1_Missense_Mutation_p.P9S	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	9	N-terminal arm.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		gcgggcgccgggcccggcgcg	0.572													A	219857874	G	A	219857874	3	1	236	1	0	0	0	0	1	0	0	0	3908	1232	43	4	584	4	CRYBA2	2	219857874	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	327919	219857874	23341499	178	119355											
FAM134A	79137	broad.mit.edu	37	chr2	220046873	220046873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaaggcaagccctggactCggaggaagaggaagaggatg	17	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220046873C>T	uc002vjw.3	+	9	1290	c.1154C>T	c.(1153-1155)TCG>TTG	p.S385L	FAM134A_uc010fwc.2_Missense_Mutation_p.S178L|FAM134A_uc002vjx.2_Missense_Mutation_p.S178L	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	385						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGGACTCGGAGGAAGAG	0.612													T	220046873	C	T	220046873	3	4	236	1	0	0	0	0	1	0	0	0	5445	893	31	1	1188	1	FAM134A	2	220046873	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	188999	220046873	23152500	179	119356											
ABCB6	10058	broad.mit.edu	37	chr2	220081103	220081103	+	Frame_Shift_Del	DEL	C	C	-													tacctgtactgccagtgccaCccccctggaggaacttgagg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220081102_220081102AC>A	uc002vkc.2	-	3	2733	c.954_954GT>T	c.(952-954)ggtfs	p.G318fs	ABCB6_uc010fwe.2_Frame_Shift_Del_p.G272fs|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	318	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.G318fs*9(1)		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)		TGCCAGTGCCACCCCCCTGGA	0.567													-	220081103	C	-	220081103	7	5	236	1	0	1	0	1	0	0	0	0	45	507	18	0	1639	0	ABCB6	2	220081103	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	34230	220081103	23118270	180	119357											
ANKZF1	55139	broad.mit.edu	37	chr2	220100486	220100486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctacacggaaaagggaGcagaaggcagcccggcggca	16	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220100486G>A	uc002vkg.2	+	12	2034	c.1860G>A	c.(1858-1860)GAG>GAA	p.E620E	ANKZF1_uc002vkh.2_Silent_p.E410E|ANKZF1_uc002vki.2_Silent_p.E620E	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	620	Potential.					intracellular	zinc ion binding			ovary(2)	2		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)		GGAAAAGGGAGCAGAAGGCAG	0.562													A	220100486	G	A	220100486	2	1	236	1	0	0	0	0	0	0	0	1	693	962	34	2		2	ANKZF1	2	220100486	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	19383	220100486	23098887	181	119358											
DNAJB2	3300	broad.mit.edu	37	chr2	220149476	220149476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcatgccccttggacagcGacctctctgaggatgaggac	11	14	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220149476G>A	uc002vkx.1	+	9	979	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D248N|DNAJB2_uc002vky.2_Missense_Mutation_p.D64N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D64N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	248					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				0		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)		CTTGGACAGCGACCTCTCTGA	0.652													A	220149476	G	A	220149476	3	1	236	1	0	0	0	0	1	0	0	0	4620	1058	37	1	772	1	DNAJB2	2	220149476	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	48990	220149476	23049897	182	119359											
GMPPA	29926	broad.mit.edu	37	chr2	220364856	220364856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaggaactcgcttcagAcctttgtcttttgaggtgcc	9	13	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220364856A>G	uc002vlr.2	+	3	122	c.54A>G	c.(52-54)AGA>AGG	p.R18R	GMPPA_uc002vls.2_Silent_p.R18R|GMPPA_uc002vlt.2_Silent_p.R18R|GMPPA_uc002vlu.2_Silent_p.R18R|GMPPA_uc002vlv.2_Silent_p.R18R|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.R18R	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	18					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CTCGCTTCAGACCTTTGTCTT	0.582													G	220364856	A	G	220364856	2	3	236	1	0	0	0	0	0	0	0	1	6494	272	10	3		3	GMPPA	2	220364856	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	215380	220364856	22834517	183	119360											
GMPPA	29926	broad.mit.edu	37	chr2	220370238	220370238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggacactcacccagaaCggctggccaagcacacccca	8	18	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220370238C>T	uc002vlr.2	+	9	882	c.814C>T	c.(814-816)CGG>TGG	p.R272W	GMPPA_uc002vls.2_Missense_Mutation_p.R272W|GMPPA_uc002vlt.2_Missense_Mutation_p.R272W|GMPPA_uc002vlu.2_Missense_Mutation_p.R272W|GMPPA_uc002vlv.2_Missense_Mutation_p.R272W|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.R272W	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	272					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCACCCAGAACGGCTGGCCAA	0.647													T	220370238	C	T	220370238	3	4	236	1	0	0	0	0	1	0	0	0	6494	527	19	1	844	1	GMPPA	2	220370238	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5382	220370238	22829135	184	119361											
TMEM198	130612	broad.mit.edu	37	chr2	220413997	220413997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtccccgggctcctcCcaggcctgggccaccagacc	12	19	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220413997C>A	uc002vme.2	+	5	1451	c.866C>A	c.(865-867)CCC>CAC	p.P289H	TMEM198_uc002vmf.2_Missense_Mutation_p.P289H|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	289	Arg-rich.					integral to membrane				ovary(1)	1		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)		CGGGCTCCTCCCAGGCCTGGG	0.637													A	220413997	C	A	220413997	3	1	236	1	0	0	0	0	1	0	0	0	16116	623	22	5	876	5	TMEM198	2	220413997	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	43759	220413997	22785376	185	119362											
STK11IP	114790	broad.mit.edu	37	chr2	220478946	220478946	+	Frame_Shift_Del	DEL	C	C	-													tgccacagaggaggaggtcaCcccccagcaccggctctggt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220478945_220478945AC>A	uc002vml.3	+	21	2855	c.2812_2812AC>A	c.(2812-2814)accfs	p.T938fs		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	938					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)		GGAGGAGGTCACCCCCCAGCA	0.602													-	220478946	C	-	220478946	7	5	236	1	0	1	0	1	0	0	0	0	15287	507	18	0	2899	0	STK11IP	2	220478946	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	64949	220478946	22720427	186	119363											
CUL3	8452	broad.mit.edu	37	chr2	225400346	225400346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattcaatgaatttagtaCatcttctcgcacctagtaac	5	9	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:225400346C>T	uc002vny.2	-	3	661	c.277G>A	c.(277-279)GTA>ATA	p.V93I	CUL3_uc010zls.1_Missense_Mutation_p.V27I|CUL3_uc010fwy.1_Missense_Mutation_p.V99I	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	93					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			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		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)		GAATTTAGTACATCTTCTCGC	0.343													T	225400346	C	T	225400346	3	4	236	1	0	0	0	0	1	0	0	0	4056	478	17	4	2085	4	CUL3	2	225400346	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4921400	225400346	17799027	187	119364											
ALPI	248	broad.mit.edu	37	chr2	233321901	233321901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacacgggtgcagcacGcctcgccagccggcacctac	10	20	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:233321901G>A	uc002vst.3	+	5	594	c.517G>A	c.(517-519)GCC>ACC	p.A173T	ALPI_uc002vsu.3_Missense_Mutation_p.A84T	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	173					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTGCAGCACGCCTCGCCAGC	0.632													A	233321901	G	A	233321901	3	1	236	1	0	0	0	0	1	0	0	0	543	1087	38	1	535	1	ALPI	2	233321901	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	7921555	233321901	9877472	188	119365											
UGT1A1	54658	broad.mit.edu	37	chr2	234590735	234590736	+	Frame_Shift_Ins	INS	-	-	G													gtggagaaactcatcctcagINSggggcatgaggtggtcgtag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:234590734_234590735A>AG	uc002vut.3	+	0	151_152	c.151_152A>AG	c.(151-153)aggfs	p.R51fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Frame_Shift_Ins_p.R51fs	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	53					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)	ACTCATCCTCAGGGGGCATGAG	0.55													G	234590736	-	G	234590735	7	5	236	1	0	1	1	0	0	0	0	0	16941	1000	35	0		0	UGT1A1	2	234590735	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1268834	234590735	8608638	189	119366											
SH3BP4	23677	broad.mit.edu	37	chr2	235943690	235943690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaactccaatggcctccCtcgctgcaagtcagagggga	12	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:235943690C>A	uc002vvp.2	+	3	437	c.44C>A	c.(43-45)CCT>CAT	p.P15H	SH3BP4_uc010fym.2_Missense_Mutation_p.P15H|SH3BP4_uc002vvq.2_Missense_Mutation_p.P15H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	15					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		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)		AATGGCCTCCCTCGCTGCAAG	0.547													A	235943690	C	A	235943690	3	1	236	1	0	0	0	0	1	0	0	0	14246	681	24	5	46	5	SH3BP4	2	235943690	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1352955	235943690	7255683	190	119367											
HDAC4	9759	broad.mit.edu	37	chr2	240033244	240033244	+	Frame_Shift_Del	DEL	G	G	-													gtcgtgaacctcggcttggtGgggggctcctgcacagacac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:240033243_240033243TG>T	uc002vyk.4	-	13	2734	c.1942_1942CA>A	c.(1942-1944)accfs	p.T648fs	HDAC4_uc010fyz.1_Frame_Shift_Del_p.T643fs|HDAC4_uc010zoa.1_Frame_Shift_Del_p.T648fs|HDAC4_uc010fza.2_Frame_Shift_Del_p.T653fs|HDAC4_uc010fyy.3_Frame_Shift_Del_p.T605fs|HDAC4_uc010znz.1_Frame_Shift_Del_p.T531fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	648					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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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)		CTCGGCTTGGTGGGGGGCTCC	0.706													-	240033244	G	-	240033244	7	5	236	1	0	1	0	1	0	0	0	0	7009	1335	47	0	1369	0	HDAC4	2	240033244	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	4089554	240033244	3166129	191	119368											
GPC1	2817	broad.mit.edu	37	chr2	241398563	241398563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccgggacagcagccgcGtcctgcaggccatgcttgcc	13	17	0	0	rs146749086		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:241398563G>A	uc002vyw.3	+	2	504	c.283G>A	c.(283-285)GTC>ATC	p.V95I	PP14571_uc002vyy.1_5'Flank	NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	95					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		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)		CAGCAGCCGCGTCCTGCAGGC	0.711													A	241398563	G	A	241398563	3	1	236	1	0	0	0	0	1	0	0	0	6597	1145	40	1	289	1	GPC1	2	241398563	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1365319	241398563	1800810	192	119369											
PASK	23178	broad.mit.edu	37	chr2	242080060	242080060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaggacacactgcccCgcggttcggacgggtccgtg	15	14	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:242080060C>T	uc002wao.1	-	3	397	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.R102Q|PASK_uc010fzl.1_Missense_Mutation_p.R102Q|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.R102Q	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	102					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		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)		CACACTGCCCCGCGGTTCGGA	0.597													T	242080060	C	T	242080060	3	4	236	1	0	0	0	0	1	0	0	0	11472	652	23	1	3730	1	PASK	2	242080060	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	681497	242080060	1119313	193	119370											
CNTN4	152330	broad.mit.edu	37	chr3	2908528	2908528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaatctgtatattgccAaagtagaaaaatcagatgtt	9	5	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:2908528A>G	uc003bpc.2	+	7	768	c.547A>G	c.(547-549)AAA>GAA	p.K183E	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.K183E	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	183	Ig-like C2-type 2.				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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTATATTGCCAAAGTAGAAAA	0.428													G	2908528	A	G	2908528	3	3	236	1	0	0	0	0	1	0	0	0	3643	131	5	3	565	3	CNTN4	3	2908528	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08		2908528	195113902	194	119371											
SRGAP3	9901	broad.mit.edu	37	chr3	9034600	9034601	+	Frame_Shift_Ins	INS	-	-	C													atatcctaccggcccatcacINSccccccaaagccgtaatccg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:9034599_9034600A>AC	uc003brf.1	-	19	3224_3225	c.2548_2549T>GT	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_uc003brg.1_Frame_Shift_Ins_p.V826fs	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G849E(1)	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)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								C	9034601	-	C	9034600	7	5	236	1	0	1	1	0	0	0	0	0	15146	507	18	0	763	0	SRGAP3	3	9034600	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	6126072	9034600	188987830	195	119372											
TTLL3	26140	broad.mit.edu	37	chr3	9862377	9862377	+	Frame_Shift_Del	DEL	C	C	-													ggaggccccgctgtacctcaCccccgagggctggtccctct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:9862376_9862376AC>A	uc003btg.3	+	6	1152	c.676_676AC>A	c.(676-678)accfs	p.T226fs	TTLL3_uc003btd.4_Frame_Shift_Del_p.T287fs|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Frame_Shift_Del_p.T14fs|TTLL3_uc010hco.1_Frame_Shift_Del_p.T162fs|TTLL3_uc003bth.4_Frame_Shift_Del_p.T14fs|TTLL3_uc011atj.2_Frame_Shift_Del_p.T162fs|TTLL3_uc003btj.4_Frame_Shift_Del_p.T14fs|TTLL3_uc003bti.4_Frame_Shift_Del_p.T14fs	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	226	TTL.				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)					GCTGTACCTCACCCCCGAGGG	0.602													-	9862377	C	-	9862377	7	5	236	1	0	1	0	1	0	0	0	0	16725	507	18	0	699	0	TTLL3	3	9862377	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	827777	9862377	188160053	196	119373											
IL17RC	84818	broad.mit.edu	37	chr3	9974363	9974365	+	In_Frame_Del	DEL	CTT	CTT	-													ctgcgctttccctcatcctcCttctcaaaaaggatcacgcg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:9974362_9974364CCTT>C	uc003bua.3	+	16	1889_1891	c.1671_1673CCTT>C	c.(1669-1674)ctcctt>ctCt	p.557_558LL>L	CIDEC_uc003bto.3_Intron|IL17RC_uc003btz.3_In_Frame_Del_p.486_487LL>L|IL17RC_uc011atp.2_In_Frame_Del_p.325_326LL>L|IL17RC_uc003bud.3_In_Frame_Del_p.27_28LL>L|IL17RC_uc010hct.3_In_Frame_Del_p.486_487LL>L|IL17RC_uc010hcu.3_In_Frame_Del_p.469_470LL>L|IL17RC_uc003bub.3_In_Frame_Del_p.471_472LL>L|IL17RC_uc010hcv.3_In_Frame_Del_p.454_455LL>L|IL17RC_uc003buc.3_In_Frame_Del_p.27_28LL>L|IL17RC_uc011atq.2_In_Frame_Del_p.471_472LL>L|IL17RC_uc003bue.3_In_Frame_Del_p.122_123LL>L|CRELD1_uc003buh.3_5'Flank|CRELD1_uc003buf.3_5'Flank|CRELD1_uc003bug.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	557						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						CCCTCATCCTCCTTCTCAAAAAG	0.606											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	9974365	CTT	-	9974363	7	5	236	1	0	1	0	1	0	0	0	0	7641	681	24	0	1738	0	IL17RC	3	9974363	In_Frame_Del	DEL	CTT	TCGA-F1-6874-01A-11D-1882-08	111986	9974363	188048067	197	119374											
CAND2	23066	broad.mit.edu	37	chr3	12875432	12875434	+	In_Frame_Del	DEL	AGA	AGA	-													tgccctctttgaaagcatccAgaaggattccgcttcagccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:12875431_12875433CAGA>C	uc003bxk.2	+	14	3710_3712	c.3661_3663CAGA>C	c.(3661-3663)cag>C	p.Q1221del	CAND2_uc003bxj.2_In_Frame_Del_p.Q1104del	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	1221					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						TGAAAGCATCCAGAAGGATTCCG	0.571													-	12875434	AGA	-	12875432	7	5	236	1	0	1	0	1	0	0	0	0	2616	188	7	0	3720	0	CAND2	3	12875432	In_Frame_Del	DEL	AGA	TCGA-F1-6874-01A-11D-1882-08	2901069	12875432	185146998	198	119375											
GPD1L	23171	broad.mit.edu	37	chr3	32200523	32200523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccttcctagagagctgCggggtggccgacctgatcac	13	14	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:32200523C>T	uc003cew.2	+	6	834	c.774C>T	c.(772-774)TGC>TGT	p.C258C		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	258					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						TAGAGAGCTGCGGGGTGGCCG	0.612													T	32200523	C	T	32200523	2	4	236	1	0	0	0	0	0	0	0	1	6605	776	27	1		1	GPD1L	3	32200523	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	19325091	32200523	165821907	199	119376											
MLH1	4292	broad.mit.edu	37	chr3	37050312	37050331	+	Frame_Shift_Del	DEL	ACCTTTTTTACAACATAGCC	ACCTTTTTTACAACATAGCC	-													atcttctgttcaggtggaggAccttttttacaacatagcca					rs4647256	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:37050311_37050330GACCTTTTTTACAACATAGCC>G	uc003cgl.3	+	5	658_677	c.460_479GACCTTTTTTACAACATAGCC>G	c.(460-480)gaccttttttacaacatagccfs	p.D154fs	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Frame_Shift_Del_p.D154fs|MLH1_uc011ayc.2_Frame_Shift_Del_p.D56fs|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_Intron|MLH1_uc003cgn.4_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	154					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.N158H(2)|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						TCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGA	0.382		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				-	37050331	ACCTTTTTTACAACATAGCC	-	37050312	7	5	236	1	0	1	0	1	0	0	0	0	9617	275	10	0	483	0	MLH1	3	37050312	Frame_Shift_Del	DEL	ACCTTTTTTACAACATAGCC	TCGA-F1-6874-01A-11D-1882-08	4849789	37050312	160972118	200	119377											
ZDHHC3	51304	broad.mit.edu	37	chr3	44968294	44968295	+	Frame_Shift_Ins	INS	-	-	T													ttcatgttcatccattttgtINSttttttagcccatcttctct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:44968293_44968294G>GT	uc003cod.3	-	7	1145_1146	c.871_872C>AC	c.(871-873)acafs	p.T291fs	ZDHHC3_uc003cog.3_Frame_Shift_Ins_p.T263fs|ZDHHC3_uc021wws.1_Intron	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	291						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)		CATCCATTTTGTTTTTTTAGCC	0.47													T	44968295	-	T	44968294	7	5	236	1	0	1	1	0	0	0	0	0	17613	1725	60	0	369	0	ZDHHC3	3	44968294	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	7917982	44968294	153054136	201	119378											
NBEAL2	23218	broad.mit.edu	37	chr3	47036838	47036838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgcgtcacctgctgcGcccccggccaggattggact	14	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:47036838G>A	uc003cqp.2	+	13	1792	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	NBEAL2_uc003cqq.1_Missense_Mutation_p.R504H|NBEAL2_uc010hjm.1_Missense_Mutation_p.R99H	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	538							binding			ovary(1)	1		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)		CACCTGCTGCGCCCCCGGCCA	0.647													A	47036838	G	A	47036838	3	1	236	1	0	0	0	0	1	0	0	0	10189	1087	38	1	1663	1	NBEAL2	3	47036838	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2068544	47036838	150985592	202	119379											
CELSR3	1951	broad.mit.edu	37	chr3	48670411	48670411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcctccacttacccacGgagatgtgccgggaagtgcc	12	15	0	1	rs13084591		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:48670411G>A	uc003cuf.1	-	39	10611	c.10611C>T	c.(10609-10611)TCC>TCT	p.S3537S	SLC26A6_uc003cug.2_Silent_p.S122S|SLC26A6_uc003cuh.2_Silent_p.S143S|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Silent_p.S143S|SLC26A6_uc003cui.2_Silent_p.S143S|SLC26A6_uc003cuj.2_Silent_p.S143S|SLC26A6_uc011bbp.1_Silent_p.S143S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTACCCACGGAGATGTGCC	0.617													A	48670411	G	A	48670411	2	1	236	1	0	0	0	0	0	0	0	1	3223	1103	39	1		1	CELSR3	3	48670411	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1633573	48670411	149352019	203	119380											
QRICH1	54870	broad.mit.edu	37	chr3	49084635	49084635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagttctggggaaggctgTggctgtgactgtggttcaac	16	6	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:49084635T>C	uc010hkq.2	-	5	1679	c.1383A>G	c.(1381-1383)CCA>CCG	p.P461P	QRICH1_uc003cvu.2_Silent_p.P461P|QRICH1_uc003cvv.2_Silent_p.P461P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	461	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGAAGGCTGTGGCTGTGACT	0.433													C	49084635	T	C	49084635	2	2	236	1	0	0	0	0	0	0	0	1	12879	1683	59	3		3	QRICH1	3	49084635	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	414224	49084635	148937795	204	119381											
LAMB2	3913	broad.mit.edu	37	chr3	49168259	49168259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctcgcagttgaggccaCgtgtgttgtgtttgcagatg	14	8	0	2	rs144771072		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:49168259C>T	uc003cwe.2	-	8	1249	c.950G>A	c.(949-951)CGT>CAT	p.R317H	LAMB2_uc003cwf.1_Missense_Mutation_p.R317H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	317	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGAGGCCACGTGTGTTGTG	0.572													T	49168259	C	T	49168259	3	4	236	1	0	0	0	0	1	0	0	0	8611	536	19	1	4546	1	LAMB2	3	49168259	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	83624	49168259	148854171	205	119382											
NICN1	84276	broad.mit.edu	37	chr3	49463813	49463813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtgtactgacggacacGgatgctcaaaaaagctgtgt	13	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:49463813G>A	uc003cwz.1	-	2	266	c.181C>T	c.(181-183)CGT>TGT	p.R61C	NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.R61C	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	nicolin 1	61						microtubule|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGACGGACACGGATGCTCAAA	0.532													A	49463813	G	A	49463813	3	1	236	1	0	0	0	0	1	0	0	0	10413	1116	39	1	480	1	NICN1	3	49463813	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	295554	49463813	148558617	206	119383											
RBM6	10180	broad.mit.edu	37	chr3	50005613	50005613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactttagggacagggataCgccacattcagatttcagag	11	8	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:50005613C>T	uc003cyc.2	+	3	888	c.755C>T	c.(754-756)ACG>ATG	p.T252M	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	252					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GACAGGGATACGCCACATTCA	0.438													T	50005613	C	T	50005613	3	4	236	1	0	0	0	0	1	0	0	0	13144	536	19	1	761	1	RBM6	3	50005613	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	541800	50005613	148016817	207	119384											
DOCK3	1795	broad.mit.edu	37	chr3	51418838	51418838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccaagccctaccaccccCgcctgccggccctggagcac	9	23	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:51418838C>T	uc011bds.1	+	53	5964	c.5941C>T	c.(5941-5943)CGC>TGC	p.R1981C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1981						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTACCACCCCCGCCTGCCGGC	0.697													T	51418838	C	T	51418838	3	4	236	1	0	0	0	0	1	0	0	0	4688	652	23	1	6151	1	DOCK3	3	51418838	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1413225	51418838	146603592	208	119385											
RBM15B	29890	broad.mit.edu	37	chr3	51430611	51430611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagccctgggaagagaggcGgaaacggagaagcctttcca	14	10	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:51430611G>T	uc003dbd.2	+	1	1881	c.1781G>T	c.(1780-1782)CGG>CTG	p.R594L		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	594	Nuclear localization signal (Potential).				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				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAAGAGAGGCGGAAACGGAGA	0.617													T	51430611	G	T	51430611	3	4	236	1	0	0	0	0	1	0	0	0	13117	1116	39	5	1783	5	RBM15B	3	51430611	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	11773	51430611	146591819	209	119386											
STAB1	23166	broad.mit.edu	37	chr3	52551616	52551616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatggcatccggacctgCgagctcctggacccctgctc	14	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:52551616C>T	uc003dej.2	+	44	4688	c.4614C>T	c.(4612-4614)TGC>TGT	p.C1538C	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1538	EGF-like 12.|Extracellular (Potential).				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		TCCGGACCTGCGAGCTCCTGG	0.627													T	52551616	C	T	52551616	2	4	236	1	0	0	0	0	0	0	0	1	15236	776	27	1		1	STAB1	3	52551616	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1121005	52551616	145470814	210	119387											
ITIH4	3700	broad.mit.edu	37	chr3	52857988	52857988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacttacagcttcccgcaCgttattctggatgctcctgg	9	14	1	0	rs74971919	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:52857988C>T	uc003dfz.2	-	10	1240	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	ITIH4_uc011bel.1_Missense_Mutation_p.V132M|ITIH4_uc003dfy.2_Missense_Mutation_p.V266M|ITIH4_uc011bem.1_Missense_Mutation_p.V402M|ITIH4_uc011ben.1_Missense_Mutation_p.V402M	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	402	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				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)		GCTTCCCGCACGTTATTCTGG	0.542													T	52857988	C	T	52857988	3	4	236	1	0	0	0	0	1	0	0	0	7906	536	19	1	1648	1	ITIH4	3	52857988	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	306372	52857988	145164442	211	119388											
DCP1A	55802	broad.mit.edu	37	chr3	53326747	53326747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggaggcatctcctggCaacctctccatttcttctga	8	13	5	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:53326747C>T	uc003dgs.3	-	7	828	c.735G>A	c.(733-735)TTG>TTA	p.L245L	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	245					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				0				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)		CATCTCCTGGCAACCTCTCCA	0.498													T	53326747	C	T	53326747	2	4	236	1	0	0	0	0	0	0	0	1	4298	709	25	2		2	DCP1A	3	53326747	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	468759	53326747	144695683	212	119389											
WNT5A	7474	broad.mit.edu	37	chr3	55513421	55513421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtcggaattgatactgGcattctttgatgcctgtctt	10	8	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:55513421G>A	uc003dhn.2	-	3	630	c.312C>T	c.(310-312)TGC>TGT	p.C104C	WNT5A_uc003dhm.2_Silent_p.C89C|WNT5A_uc010hmw.2_Silent_p.C89C|WNT5A_uc010hmx.2_Silent_p.C15C	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	104					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				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ATTGATACTGGCATTCTTTGA	0.458													A	55513421	G	A	55513421	2	1	236	1	0	0	0	0	0	0	0	1	17388	1195	42	2		2	WNT5A	3	55513421	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2186674	55513421	142509009	213	119390											
ERC2	26059	broad.mit.edu	37	chr3	56468490	56468490	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggactccagaaagtcttAatactgttcatggaagatcc	8	9	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:56468490A>G	uc003dhr.1	-	2	802	c.546T>C	c.(544-546)ATT>ATC	p.I182I		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	182	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGAAAGTCTTAATACTGTTCA	0.488													G	56468490	A	G	56468490	2	3	236	1	0	0	0	0	0	0	0	1	5211	358	13	3		3	ERC2	3	56468490	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	955069	56468490	141553940	214	119391											
CADPS	8618	broad.mit.edu	37	chr3	62636706	62636706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgacttcagctcctcaAtgtacatgttttccatttct	5	11	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:62636706A>G	uc003dll.2	-	5	1379	c.1019T>C	c.(1018-1020)ATT>ACT	p.I340T	CADPS_uc003dlm.2_Missense_Mutation_p.I340T|CADPS_uc003dln.2_Missense_Mutation_p.I340T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	340					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		CAGCTCCTCAATGTACATGTT	0.443													G	62636706	A	G	62636706	3	3	236	1	0	0	0	0	1	0	0	0	2570	101	4	3	3219	3	CADPS	3	62636706	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	6168216	62636706	135385724	215	119392											
MAGI1	9223	broad.mit.edu	37	chr3	65342612	65342612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccaggtgtggtgttcaTtgggttgtctgctatactct	11	8	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:65342612T>C	uc003dmn.2	-	23	4356	c.3830A>G	c.(3829-3831)AAT>AGT	p.N1277S	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1306					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		GTGGTGTTCATTGGGTTGTCT	0.607													C	65342612	T	C	65342612	3	2	236	1	0	0	0	0	1	0	0	0	9190	1493	52	3	562	3	MAGI1	3	65342612	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2705906	65342612	132679818	216	119393											
MAGI1	9223	broad.mit.edu	37	chr3	65425596	65425596	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgttgctGctgctgttgctgctgctgct	13	12	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:65425596G>A	uc003dmn.2	-	9	1754	c.1228C>T	c.(1228-1230)CAG>TAG	p.Q410*	MAGI1_uc003dmm.2_Nonsense_Mutation_p.Q410*|MAGI1_uc003dmo.2_Nonsense_Mutation_p.Q410*|MAGI1_uc003dmp.2_Nonsense_Mutation_p.Q410*|MAGI1_uc010hny.2_Nonsense_Mutation_p.Q295*	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	410	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		tgctgttgctgctgctgttgc	0.343											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65425596	G	A	65425596	4	1	236	1	0	0	0	0	0	1	0	0	9190	1328	46	2	3454	2	MAGI1	3	65425596	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	82984	65425596	132596834	217	119394											
TMEM45A	55076	broad.mit.edu	37	chr3	100274058	100274059	+	Frame_Shift_Ins	INS	-	-	G													tcttatatttgtagatcatgINSgggaatttcagaggtcatgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:100274057_100274058T>TG	uc003dua.1	+	2	249_250	c.50_51T>TG	c.(49-51)atgfs	p.M17fs	TMEM45A_uc003dtz.1_Frame_Shift_Ins_p.M1fs	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	1						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TTGTAGATCATGGGGAATTTCA	0.361													G	100274059	-	G	100274058	7	5	236	1	0	1	1	0	0	0	0	0	16166	1348	47	0	5	0	TMEM45A	3	100274058	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	34848462	100274058	97748372	218	119395											
BBX	56987	broad.mit.edu	37	chr3	107491918	107491918	+	Frame_Shift_Del	DEL	A	A	-													ttaaacaagccagaaaagctAaaaaagaaaaagaagaaaag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:107491917_107491917TA>T	uc010hpr.3	+	10	1676	c.1349_1349TA>T	c.(1348-1350)ctafs	p.L450fs	BBX_uc003dwk.4_Frame_Shift_Del_p.L450fs|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Frame_Shift_Del_p.L471fs|BBX_uc003dwm.4_Frame_Shift_Del_p.L450fs|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	450	Lys-rich.				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)			CCAGAAAAGCTAAAAAAGAAA	0.373													-	107491918	A	-	107491918	7	5	236	1	0	1	0	1	0	0	0	0	1343	349	13	0	1380	0	BBX	3	107491918	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	7217860	107491918	90530512	219	119396											
TMPRSS7	344805	broad.mit.edu	37	chr3	111766641	111766641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctctccactacccgctGgagatttctgcagcctcagg	9	15	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:111766641G>A	uc010hqb.2	+	5	578	c.408G>A	c.(406-408)CTG>CTA	p.L136L	TMPRSS7_uc011bhr.1_5'UTR	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	262	Extracellular (Potential).|CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ACTACCCGCTGGAGATTTCTG	0.473													A	111766641	G	A	111766641	2	1	236	1	0	0	0	0	0	0	0	1	16249	1335	47	4		4	TMPRSS7	3	111766641	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4274723	111766641	86255789	220	119397											
CCDC52	152185	broad.mit.edu	37	chr3	113172563	113172563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actgttgagtgttggaatggGaattgcagaggggctgtgag	18	3	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:113172563G>T	uc003eag.3	-	14	2183	c.1892C>A	c.(1891-1893)TCC>TAC	p.S631Y	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.S527Y	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	631					cell division|mitosis	centriole|spindle	protein binding				0						GTTGGAATGGGAATTGCAGAG	0.473													T	113172563	G	T	113172563	3	4	236	1	0	0	0	0	1	0	0	0	2822	1174	41	5	695	5	CCDC52	3	113172563	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1405922	113172563	84849867	221	119398											
KIAA2018	205717	broad.mit.edu	37	chr3	113379675	113379677	+	In_Frame_Del	DEL	TTC	TTC	-													ctttggggttctcttgtccaTtcttattttcagaagaattt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:113379674_113379676ATTC>A	uc003eam.3	-	6	1264_1266	c.853_855GAAT>T	c.(853-855)aat>T	p.N285del	KIAA2018_uc003eal.3_In_Frame_Del_p.N229del	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	285					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion 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						TCTCTTGTCCATTCTTATTTTCA	0.419													-	113379677	TTC	-	113379675	7	5	236	1	0	1	0	1	0	0	0	0	8268	1493	52	0	5887	0	KIAA2018	3	113379675	In_Frame_Del	DEL	TTC	TCGA-F1-6874-01A-11D-1882-08	207112	113379675	84642755	222	119399											
QTRTD1	79691	broad.mit.edu	37	chr3	113784223	113784223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgtataccaagactgGctccgccccacacctcaccc	5	20	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:113784223G>A	uc003eay.2	+	3	349	c.119G>A	c.(118-120)GGC>GAC	p.G40D	QTRTD1_uc003eaz.2_Missense_Mutation_p.G52D|QTRTD1_uc011biq.1_Intron|QTRTD1_uc011bir.1_Intron|QTRTD1_uc003eba.2_5'Flank	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	40					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						ACCAAGACTGGCTCCGCCCCA	0.507													A	113784223	G	A	113784223	3	1	236	1	0	0	0	0	1	0	0	0	12886	1203	42	2	121	2	QTRTD1	3	113784223	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	404548	113784223	84238207	223	119400											
POLQ	10721	broad.mit.edu	37	chr3	121207550	121207550	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcgggctttctggagtcaGgatatcaaccccatgtgaat	10	9	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:121207550G>T	uc003eee.3	-	16	4357	c.4228C>A	c.(4228-4230)CTG>ATG	p.L1410M	POLQ_uc003eed.2_Missense_Mutation_p.L582M	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1410					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCTGGAGTCAGGATATCAACC	0.378								DNA_polymerases_(catalytic_subunits)					T	121207550	G	T	121207550	3	4	236	1	0	0	0	0	1	0	0	0	12208	991	35	5	3604	5	POLQ	3	121207550	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	7423327	121207550	76814880	224	119401											
PARP9	83666	broad.mit.edu	37	chr3	122247346	122247346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgaggtatagcctgcatGccactaaaaataacaaaggt	8	8	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:122247346G>A	uc010hri.2	-	11	2575	c.2430C>T	c.(2428-2430)GGC>GGT	p.G810G	PARP9_uc003eff.3_Silent_p.G775G|PARP9_uc011bjs.1_Silent_p.G775G|PARP9_uc003efg.2_Silent_p.G355G|PARP9_uc003efi.2_Silent_p.G775G|PARP9_uc003efh.2_Silent_p.G810G	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	810	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		TAGCCTGCATGCCACTAAAAA	0.448													A	122247346	G	A	122247346	2	1	236	1	0	0	0	0	0	0	0	1	11466	1306	46	2		2	PARP9	3	122247346	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1039796	122247346	75775084	225	119402											
ALDH1L1	10840	broad.mit.edu	37	chr3	125873468	125873468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttgtgaatggcctctgCcggctggtcccagttgatct	12	12	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:125873468C>T	uc003eim.1	-	6	839	c.649G>A	c.(649-651)GCA>ACA	p.A217T	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.A243T|ALDH1L1_uc003eip.1_Missense_Mutation_p.A124T|ALDH1L1_uc011bkj.1_Missense_Mutation_p.A42T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	217					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATGGCCTCTGCCGGCTGGTCC	0.557													T	125873468	C	T	125873468	3	4	236	1	0	0	0	0	1	0	0	0	494	739	26	2	2131	2	ALDH1L1	3	125873468	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3626122	125873468	72148962	226	119403											
IFT122	55764	broad.mit.edu	37	chr3	129198669	129198669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcagcggagtgaaggaGcgggagtggcagatggagtc	18	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:129198669G>A	uc003emm.2	+	13	1598	c.1392G>A	c.(1390-1392)GAG>GAA	p.E464E	IFT122_uc003eml.2_Silent_p.E515E|IFT122_uc003emn.2_Silent_p.E405E|IFT122_uc003emo.2_Silent_p.E353E|IFT122_uc003emp.2_Silent_p.E314E|IFT122_uc010htc.2_Silent_p.E456E|IFT122_uc011bky.1_Silent_p.E255E|IFT122_uc003emq.2_Silent_p.E304E|IFT122_uc003emr.2_Silent_p.E255E|IFT122_uc011bla.1_Silent_p.E255E|IFT122_uc011bkx.1_Silent_p.E304E|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_5'Flank	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	464					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GAGTGAAGGAGCGGGAGTGGC	0.547													A	129198669	G	A	129198669	2	1	236	1	0	0	0	0	0	0	0	1	7555	962	34	2		2	IFT122	3	129198669	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3325201	129198669	68823761	227	119404											
PLXND1	23129	broad.mit.edu	37	chr3	129304808	129304808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcactgggtactcctggCgcacatcgatctcggaaggc	12	13	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:129304808C>T	uc003emx.2	-	5	1938	c.1838G>A	c.(1837-1839)CGC>CAC	p.R613H		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	613	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GTACTCCTGGCGCACATCGAT	0.657													T	129304808	C	T	129304808	3	4	236	1	0	0	0	0	1	0	0	0	12127	768	27	1	4067	1	PLXND1	3	129304808	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	106139	129304808	68717622	228	119405											
COL6A6	131873	broad.mit.edu	37	chr3	130300576	130300576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagactcaggtcagtgtggCttttcaagtgaccaatgcca	11	9	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:130300576C>A	uc010htl.2	+	8	3750	c.3719C>A	c.(3718-3720)GCT>GAT	p.A1240D	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1240	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GTCAGTGTGGCTTTTCAAGTG	0.443													A	130300576	C	A	130300576	3	1	236	1	0	0	0	0	1	0	0	0	3703	797	28	5	3749	5	COL6A6	3	130300576	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	995768	130300576	67721854	229	119406											
DNAJC13	23317	broad.mit.edu	37	chr3	132175582	132175582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccaagaaggggatgtcGttgcttcaaatgcggaactt	12	8	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:132175582G>A	uc003eor.2	+	12	1320	c.1255G>A	c.(1255-1257)GTT>ATT	p.V419I	DNAJC13_uc010htq.1_Missense_Mutation_p.V419I|DNAJC13_uc003eos.1_Missense_Mutation_p.V86I	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	419							heat shock protein binding			ovary(1)|breast(1)	2						AGGGGATGTCGTTGCTTCAAA	0.438													A	132175582	G	A	132175582	3	1	236	1	0	0	0	0	1	0	0	0	4632	1145	40	1	1297	1	DNAJC13	3	132175582	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1875006	132175582	65846848	230	119407											
SRPRB	58477	broad.mit.edu	37	chr3	133534433	133534433	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgttttctccctccaGggctattgtgtttgttgtgg	10	8	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:133534433G>T	uc003epx.1	+	5	427	c.411_splice	c.e5-1	p.G137_splice		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta							endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1						TCTCCCTCCAGGGCTATTGTG	0.418													T	133534433	G	T	133534433	5	4	236	1	0	0	0	0	0	0	1	0	15162	1014	35	5	428	5	SRPRB	3	133534433	Splice_Site	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1358851	133534433	64487997	231	119408											
CEP63	80254	broad.mit.edu	37	chr3	134251733	134251733	+	Frame_Shift_Del	DEL	A	A	-													gaaattgagaggttaactgcAaaaatagaggtatgttcata							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:134251732_134251732CA>C	uc003eqo.1	+	5	880	c.431_431CA>C	c.(430-432)gcafs	p.A144fs	CEP63_uc003eql.1_Frame_Shift_Del_p.A144fs|CEP63_uc003eqm.3_Frame_Shift_Del_p.A144fs|CEP63_uc003eqn.1_Frame_Shift_Del_p.A144fs	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	144					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|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						AGGTTAACTGCAAAAATAGAG	0.363													-	134251733	A	-	134251733	7	5	236	1	0	1	0	1	0	0	0	0	3257	117	5	0	446	0	CEP63	3	134251733	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	717300	134251733	63770697	232	119409											
ZBTB38	253461	broad.mit.edu	37	chr3	141163525	141163525	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgagccagataaagtgggTaggtttgcaagcagacccaa	12	10	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:141163525T>C	uc003etw.2	+	8	3277	c.2295T>C	c.(2293-2295)GGT>GGC	p.G765G	ZBTB38_uc010hun.2_Silent_p.G762G|ZBTB38_uc010huo.2_Silent_p.G765G|ZBTB38_uc003ety.2_Silent_p.G765G|ZBTB38_uc010hup.2_Silent_p.G766G	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	765					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ATAAAGTGGGTAGGTTTGCAA	0.483													C	141163525	T	C	141163525	2	2	236	1	0	0	0	0	0	0	0	1	17536	1625	57	3		3	ZBTB38	3	141163525	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	6911792	141163525	56858905	233	119410											
TFDP2	7029	broad.mit.edu	37	chr3	141724321	141724321	+	Frame_Shift_Del	DEL	T	T	-													cacatttattggtcctaaggTttttggtaaaatctttgtag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:141724321delT	uc003eun.3	-	4	527	c.148delA	c.(148-150)ACCfs	p.T50fs	TFDP2_uc010hur.2_5'UTR|TFDP2_uc003eul.3_5'UTR|TFDP2_uc011bnf.1_5'UTR|TFDP2_uc011bng.1_Intron|TFDP2_uc003eum.3_5'UTR|TFDP2_uc003euo.2_RNA	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	50					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						GGTCCTAAGGTTTTTGGTAAA	0.303													-	141724321	T	-	141724321	7	5	236	1	0	1	0	1	0	0	0	0	15795	1725	60	0	1341	0	TFDP2	3	141724321	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	560796	141724321	56298109	234	119411											
GYG1	2992	broad.mit.edu	37	chr3	148714559	148714560	+	Frame_Shift_Del	DEL	AG	AG	-													atattgatgatctttttgacAgagaagaattgtcagcagca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:148714558_148714559CAG>C	uc003ewn.3	+	3	581_582	c.348_349CAG>C	c.(346-351)gacagafs	p.D116fs	GYG1_uc011bnp.2_Frame_Shift_Del_p.D116fs|GYG1_uc003ewo.3_Frame_Shift_Del_p.D116fs|GYG1_uc003ewp.3_Frame_Shift_Del_p.D116fs	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	116					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)			ATCTTTTTGACAGAGAAGAATT	0.426													-	148714560	AG	-	148714559	7	5	236	1	0	1	0	1	0	0	0	0	6905	180	7	0	363	0	GYG1	3	148714559	Frame_Shift_Del	DEL	AG	TCGA-F1-6874-01A-11D-1882-08	6990238	148714559	49307871	235	119412											
MLF1	4291	broad.mit.edu	37	chr3	158320655	158320655	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaagtacaaaccaggaCgacacaatctaggaaacact	7	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:158320655C>T	uc003fcb.2	+	6	765	c.628C>T	c.(628-630)CGA>TGA	p.R210*	MLF1_uc003fbz.2_Nonsense_Mutation_p.R185*|MLF1_uc003fca.2_Nonsense_Mutation_p.R185*|MLF1_uc003fbx.2_Nonsense_Mutation_p.R200*|MLF1_uc003fcc.2_Nonsense_Mutation_p.R241*|MLF1_uc003fby.2_Nonsense_Mutation_p.R136*|MLF1_uc010hvx.2_Nonsense_Mutation_p.R142*	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	210					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CAAACCAGGACGACACAATCT	0.383			T	NPM1	AML								T	158320655	C	T	158320655	4	4	236	1	0	0	0	0	0	1	0	0	9614	528	19	1	650	1	MLF1	3	158320655	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	9606096	158320655	39701775	236	119413											
SCHIP1	29970	broad.mit.edu	37	chr3	158980401	158980401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagaggagcccgtccCcaccctctgtctcctcagag	12	15	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:158980401C>A	uc003fcq.1	+	4	325	c.220C>A	c.(220-222)CCA>ACA	p.P74T	SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Missense_Mutation_p.P74T|IQCJ_uc010hvy.1_Missense_Mutation_p.P47T|IQCJ_uc003fcp.1_Missense_Mutation_p.P74T	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	Error:Variant_position_missing_in_Q9P0W5_after_alignment						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GAGCCCGTCCCCACCCTCTGT	0.532													A	158980401	C	A	158980401	3	1	236	1	0	0	0	0	1	0	0	0	13904	623	22	5		5	SCHIP1	3	158980401	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	659746	158980401	39042029	237	119414											
BCHE	590	broad.mit.edu	37	chr3	165491234	165491234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatttttccagtccatcAtgtaattgttccagcgatgg	8	8	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:165491234A>G	uc003fem.3	-	4	1905	c.1745T>C	c.(1744-1746)ATG>ACG	p.M582T	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	582					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			ovary(3)|pancreas(1)	4					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)	CCAGTCCATCATGTAATTGTT	0.313													G	165491234	A	G	165491234	3	3	236	1	0	0	0	0	1	0	0	0	1358	217	8	3	67	3	BCHE	3	165491234	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	6510833	165491234	32531196	238	119415											
BCHE	590	broad.mit.edu	37	chr3	165547795	165547795	+	Frame_Shift_Del	DEL	T	T	-													aacacccaccaaaatctgggTttttttaaattgtccaagtt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:165547794_165547794GT>G	uc003fem.4	-	1	1188	c.1028_1028AC>C	c.(1027-1029)accfs	p.T343fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	343					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)	CAAAATCTGGGTTTTTTTAAA	0.383													-	165547795	T	-	165547795	7	5	236	1	0	1	0	1	0	0	0	0	1358	1725	60	0	793	0	BCHE	3	165547795	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	56561	165547795	32474635	239	119416											
ZBBX	79740	broad.mit.edu	37	chr3	167023611	167023611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatcagacttttgattActttctaaacctatattttt	3	7	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:167023611A>G	uc003fep.2	-	17	1868	c.1545T>C	c.(1543-1545)AGT>AGC	p.S515S	ZBBX_uc011bpc.1_Silent_p.S515S|ZBBX_uc003feq.2_Silent_p.S486S	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	515						intracellular	zinc ion binding			ovary(2)	2						ACTTTTGATTACTTTCTAAAC	0.348													G	167023611	A	G	167023611	2	3	236	1	0	0	0	0	0	0	0	1	17513	388	14	3		3	ZBBX	3	167023611	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1475816	167023611	30998819	240	119417											
NAALADL2	254827	broad.mit.edu	37	chr3	174814794	174814794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagacctcaatcttgattcCattcaaccagcaacttcacc	3	14	4	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:174814794C>T	uc003fit.2	+	2	345	c.258C>T	c.(256-258)TCC>TCT	p.S86S	NAALADL2_uc003fiu.1_Silent_p.S79S	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	86	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		ATCTTGATTCCATTCAACCAG	0.443													T	174814794	C	T	174814794	2	4	236	1	0	0	0	0	0	0	0	1	10130	581	21	4		4	NAALADL2	3	174814794	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7791183	174814794	23207636	241	119418											
HTR3E	285242	broad.mit.edu	37	chr3	183823624	183823624	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggctttctggttgccatCgatgccctcagcttctacct	9	13	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:183823624C>T	uc010hxq.2	+	7	1258	c.792C>T	c.(790-792)ATC>ATT	p.I264I	HTR3E_uc003fml.3_Silent_p.I249I|HTR3E_uc003fmm.2_Silent_p.I279I|HTR3E_uc010hxr.2_Silent_p.I290I|HTR3E_uc003fmn.2_Silent_p.I264I	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	264	Helical; Name=1; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGGTTGCCATCGATGCCCTCA	0.547													T	183823624	C	T	183823624	2	4	236	1	0	0	0	0	0	0	0	1	7448	874	31	1		1	HTR3E	3	183823624	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	9008830	183823624	14198806	242	119419											
MAP3K13	9175	broad.mit.edu	37	chr3	185191163	185191163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagccctgcggagcCcactcagcaaccatgctcag	10	17	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:185191163C>A	uc010hyf.2	+	12	2310	c.2044C>A	c.(2044-2046)CCA>ACA	p.P682T	MAP3K13_uc011brt.1_Missense_Mutation_p.P475T|MAP3K13_uc011bru.1_Missense_Mutation_p.P538T|MAP3K13_uc003fpi.2_Missense_Mutation_p.P682T|MAP3K13_uc010hyg.2_Missense_Mutation_p.P372T	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	682					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			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCTGCGGAGCCCACTCAGCAA	0.592													A	185191163	C	A	185191163	3	1	236	1	0	0	0	0	1	0	0	0	9247	623	22	5	2082	5	MAP3K13	3	185191163	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1367539	185191163	12831267	243	119420											
LIPH	200879	broad.mit.edu	37	chr3	185237017	185237017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggagtcacagggatacgCagtgatggtgcagctctctc	14	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:185237017C>T	uc003fpm.2	-	6	909	c.799G>A	c.(799-801)GCG>ACG	p.A267T	LIPH_uc010hyh.2_Missense_Mutation_p.A233T	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	lipase, member H precursor	267					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(1)|pancreas(1)	2	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAGGGATACGCAGTGATGGTG	0.473													T	185237017	C	T	185237017	3	4	236	1	0	0	0	0	1	0	0	0	8824	710	25	2	576	2	LIPH	3	185237017	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	45854	185237017	12785413	244	119421											
FETUB	26998	broad.mit.edu	37	chr3	186370137	186370138	+	Frame_Shift_Ins	INS	-	-	C													gaatcccagcagaaaaacacINSccccccaacagactccccct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:186370136_186370137A>AC	uc010hyq.3	+	7	1126_1127	c.865_866A>AC	c.(865-867)accfs	p.T289fs	FETUB_uc011brz.2_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqn.3_Frame_Shift_Ins_p.T289fs|FETUB_uc010hyr.3_Frame_Shift_Ins_p.T252fs|FETUB_uc010hys.3_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqp.4_Frame_Shift_Ins_p.T224fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	289						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)		GCAGAAAAACACCCCCCCAACA	0.495													C	186370138	-	C	186370137	7	5	236	1	0	1	1	0	0	0	0	0	5821	507	18	0	892	0	FETUB	3	186370137	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1133120	186370137	11652293	245	119422											
ADIPOQ	9370	broad.mit.edu	37	chr3	186570969	186570969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcacaggttggatggCgggcatcccagggcatccgg	17	12	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:186570969C>T	uc003fra.2	+	2	206	c.122C>T	c.(121-123)GCG>GTG	p.A41V	ADIPOQ_uc010hyy.2_Missense_Mutation_p.A41V	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	41					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			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGTTGGATGGCGGGCATCCCA	0.617													T	186570969	C	T	186570969	3	4	236	1	0	0	0	0	1	0	0	0	317	768	27	1	124	1	ADIPOQ	3	186570969	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	200832	186570969	11451461	246	119423											
MFI2	4241	broad.mit.edu	37	chr3	196744090	196744090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcggtgacatcggcccGgctaccatcccggcacagca	10	18	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:196744090G>A	uc003fxk.3	-	7	897	c.784C>T	c.(784-786)CGG>TGG	p.R262W		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	262	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		ACATCGGCCCGGCTACCATCC	0.682													A	196744090	G	A	196744090	3	1	236	1	0	0	0	0	1	0	0	0	9522	1115	39	1	1472	1	MFI2	3	196744090	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	10173121	196744090	1278340	247	119424											
PIGG	54872	broad.mit.edu	37	chr4	515707	515707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttctgaccaacgtgctcGtgggtggaaacaccccaagg	12	12	1	1	rs143362968		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:515707G>A	uc003gak.3	+	8	1727	c.1591G>A	c.(1591-1593)GTG>ATG	p.V531M	PIGG_uc003gaj.3_Missense_Mutation_p.V523M|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V398M|PIGG_uc003gal.3_Missense_Mutation_p.V442M|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.V442M	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	531					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CAACGTGCTCGTGGGTGGAAA	0.577													A	515707	G	A	515707	3	1	236	1	0	0	0	0	1	0	0	0	11888	1145	40	1	1621	1	PIGG	4	515707	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08		515707	190638569	248	119425											
FGFRL1	53834	broad.mit.edu	37	chr4	1018752	1018752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccactagcctgccgtggCccgtggtcatcggcatccca	12	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:1018752C>T	uc003gce.2	+	7	1293	c.1132C>T	c.(1132-1134)CCC>TCC	p.P378S	FGFRL1_uc003gcf.2_Missense_Mutation_p.P378S|FGFRL1_uc003gcg.2_Missense_Mutation_p.P378S|FGFRL1_uc010ibo.2_Missense_Mutation_p.P378S	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	378	Extracellular (Potential).			Missing (in Ref. 3; AAK15273).	regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTGCCGTGGCCCGTGGTCAT	0.682													T	1018752	C	T	1018752	3	4	236	1	0	0	0	0	1	0	0	0	5869	739	26	2	1154	2	FGFRL1	4	1018752	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	503045	1018752	190135524	249	119426											
CRIPAK	285464	broad.mit.edu	37	chr4	1389203	1389203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtggagtgcccgcctGctcacacgtgccgacgtgga	13	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:1389203G>A	uc003gdf.2	+	1	3864	c.904G>A	c.(904-906)GCT>ACT	p.A302T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	302					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACACGTG	0.677													A	1389203	G	A	1389203	3	1	236	1	0	0	0	0	1	0	0	0	3877	1319	46	2	906	2	CRIPAK	4	1389203	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	370451	1389203	189765073	250	119427											
HTT	3064	broad.mit.edu	37	chr4	3227435	3227436	+	Frame_Shift_Ins	INS	-	-	G													gctacagatcaaccccgagcINSgggagctggggagcatgagc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:3227435_3227436insG	uc011bvq.1	+	58	7964_7965	c.7819_7820insG	c.(7819-7821)CGGfs	p.R2607fs		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2605					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAACCCCGAGCGGGAGCTGGGG	0.634													G	3227436	-	G	3227435	7	5	236	1	0	1	1	0	0	0	0	0	7457	759	27	0	8039	0	HTT	4	3227435	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1838232	3227435	187926841	251	119428	609	2									
HTT	3064	broad.mit.edu	37	chr4	3227436	3227437	+	Frame_Shift_Ins	INS	-	-	G													ctacagatcaaccccgagcgINSggagctggggagcatgagct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:3227435_3227436C>CG	uc021xkv.1	+	56	7958_7959	c.7813_7814C>CG	c.(7813-7815)cggfs	p.R2605fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2605					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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)		CAACCCCGAGCGGGAGCTGGGG	0.634													G	3227437	-	G	3227436	7	5	236	1	0	1	1	0	0	0	0	0	7457	1116	39	0	8040	0	HTT	4	3227436	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	3227436	187926840	252	119429	609	2									
HGFAC	3083	broad.mit.edu	37	chr4	3449908	3449908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggtccccctggtcgccGaccacaagtgcagcagccct	10	19	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:3449908G>A	uc003ghc.2	+	13	1693	c.1690G>A	c.(1690-1692)GAC>AAC	p.D564N	HGFAC_uc010icw.2_Missense_Mutation_p.D571N	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	564	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGGTCGCCGACCACAAGTG	0.662													A	3449908	G	A	3449908	3	1	236	1	0	0	0	0	1	0	0	0	7086	1058	37	1	1740	1	HGFAC	4	3449908	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	222472	3449908	187704368	253	119430											
ZBTB49	166793	broad.mit.edu	37	chr4	4303754	4303754	+	Frame_Shift_Del	DEL	T	T	-													ttcaagccagaagaatgatgTttttcacttggatgttaaaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:4303753_4303753GT>G	uc003ghu.3	+	2	365	c.190_190GT>G	c.(190-192)gttfs	p.V64fs	ZBTB49_uc003ghv.3_Intron|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	64	BTB.				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						GAAGAATGATGTTTTTCACTT	0.353													-	4303754	T	-	4303754	7	5	236	1	0	1	0	1	0	0	0	0	17547	1725	60	0	197	0	ZBTB49	4	4303754	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	853846	4303754	186850522	254	119431											
TADA2B	93624	broad.mit.edu	37	chr4	7056395	7056395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagatccgagaactgcagCggtaccggcgaaacgggatc	13	12	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:7056395C>T	uc003gjw.3	+	2	1028	c.877C>T	c.(877-879)CGG>TGG	p.R293W	TADA2B_uc010idi.2_Missense_Mutation_p.R218W	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						AGAACTGCAGCGGTACCGGCG	0.522													T	7056395	C	T	7056395	3	4	236	1	0	0	0	0	1	0	0	0	15508	759	27	1	883	1	TADA2B	4	7056395	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2752641	7056395	184097881	255	119432											
GPR78	27201	broad.mit.edu	37	chr4	8584304	8584304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcggcgccgccaccgcGccaccaggaagattggcatt	13	14	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:8584304G>A	uc003glk.2	+	2	1134	c.715G>A	c.(715-717)GCC>ACC	p.A239T	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	239	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						CCGCCACCGCGCCACCAGGAA	0.622													A	8584304	G	A	8584304	3	1	236	1	0	0	0	0	1	0	0	0	6710	1087	38	1	721	1	GPR78	4	8584304	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1527909	8584304	182569972	256	119433											
CC2D2A	57545	broad.mit.edu	37	chr4	15601172	15601172	+	Frame_Shift_Del	DEL	A	A	-													gattgaaaaaatactaaaagAaaaaatcatggactggaggc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:15601172delA	uc010idv.2	+	37	4762	c.4517delA	c.(4516-4518)GAAfs	p.E1506fs	CC2D2A_uc003gnx.2_Frame_Shift_Del_p.E1398fs|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1506					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ATACTAAAAGAAAAAATCATG	0.378													-	15601172	A	-	15601172	7	5	236	1	0	1	0	1	0	0	0	0	2728	246	9	0	4858	0	CC2D2A	4	15601172	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	7016868	15601172	175553104	257	119434											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815550	23815550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagggtagctcagtttaTcactttcatcttcgctgtca	7	12	5	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:23815550T>C	uc003gqs.2	-	8	1676	c.1556A>G	c.(1555-1557)GAT>GGT	p.D519G	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	519					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			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GCTCAGTTTATCACTTTCATC	0.398													C	23815550	T	C	23815550	3	2	236	1	0	0	0	0	1	0	0	0	12300	1435	50	3	864	3	PPARGC1A	4	23815550	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	8214378	23815550	167338726	258	119435											
LGI2	55203	broad.mit.edu	37	chr4	25005583	25005583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgatatcaacaaactcCgcatccgtgtccctgaacca	5	16	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:25005583C>T	uc003grf.2	-	8	1227	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	376	EAR 4.					extracellular region					0		Breast(46;0.173)				CAACAAACTCCGCATCCGTGT	0.483													T	25005583	C	T	25005583	2	4	236	1	0	0	0	0	0	0	0	1	8752	639	23	1		1	LGI2	4	25005583	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1190033	25005583	166148693	259	119436											
GUF1	60558	broad.mit.edu	37	chr4	44680700	44680700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgcgccacgagccactGgggccgcgcttctggtggcc	14	17	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:44680700G>T	uc003gww.3	+	1	268	c.61G>T	c.(61-63)GGG>TGG	p.G21W	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	21					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						ACGAGCCACTGGGGCCGCGCT	0.731													T	44680700	G	T	44680700	3	4	236	1	0	0	0	0	1	0	0	0	6899	1348	47	5	63	5	GUF1	4	44680700	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	19675117	44680700	146473576	260	119437											
NFXL1	152518	broad.mit.edu	37	chr4	47901438	47901438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggaggtttaaattcacGctcacatacttggccacatg	8	10	2	0	rs139473913	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:47901438G>A	uc010igh.2	-	6	952	c.775C>T	c.(775-777)CGT>TGT	p.R259C	NFXL1_uc003gxp.2_Missense_Mutation_p.R259C|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.R259C	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	259						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						TTAAATTCACGCTCACATACT	0.388													A	47901438	G	A	47901438	3	1	236	1	0	0	0	0	1	0	0	0	10388	1087	38	1	2032	1	NFXL1	4	47901438	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3220738	47901438	143252838	261	119438											
SPATA18	132671	broad.mit.edu	37	chr4	52944991	52944991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtggggtcgaatgacTttgagaatgctgtcttggat	13	5	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:52944991T>G	uc003gzl.2	+	8	1389	c.1111T>G	c.(1111-1113)TTT>GTT	p.F371V	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.F339V|SPATA18_uc003gzk.1_Missense_Mutation_p.F371V	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	371					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCGAATGACTTTGAGAATGC	0.383													G	52944991	T	G	52944991	3	3	236	1	0	0	0	0	1	0	0	0	15002	1609	56	5	1141	5	SPATA18	4	52944991	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	5043553	52944991	138209285	262	119439											
FIP1L1	81608	broad.mit.edu	37	chr4	54324899	54324899	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcgagaaaaagaagaaCgacatagagaaagacgacac	10	7	0	5			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:54324899C>T	uc003gzy.2	+	17	1765	c.1579C>T	c.(1579-1581)CGA>TGA	p.R527*	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Nonsense_Mutation_p.R521*|FIP1L1_uc003gzz.2_Nonsense_Mutation_p.R453*|FIP1L1_uc003hab.2_Nonsense_Mutation_p.R492*|FIP1L1_uc003hac.2_Nonsense_Mutation_p.R281*|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Silent_p.N111N|FIP1L1_uc003hae.2_Silent_p.N114N	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	527	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAAAGAAGAACGACATAGAGA	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome								T	54324899	C	T	54324899	4	4	236	1	0	0	0	0	0	1	0	0	5896	528	19	1	1676	1	FIP1L1	4	54324899	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1379908	54324899	136829377	263	119440											
AASDH	132949	broad.mit.edu	37	chr4	57211364	57211364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtggttggatccatggTtgccgagcttttgacagcat	12	9	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:57211364T>C	uc003hbn.2	-	12	2734	c.2581A>G	c.(2581-2583)ACC>GCC	p.T861A	AASDH_uc010ihb.2_Missense_Mutation_p.T376A|AASDH_uc011caa.1_Intron|AASDH_uc003hbo.2_Missense_Mutation_p.T761A|AASDH_uc011cab.1_Missense_Mutation_p.T376A|AASDH_uc010ihc.2_Intron	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	861					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGATCCATGGTTGCCGAGCTT	0.358													C	57211364	T	C	57211364	3	2	236	1	0	0	0	0	1	0	0	0	22	1725	60	3	731	3	AASDH	4	57211364	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2886465	57211364	133942912	264	119441											
GC	2638	broad.mit.edu	37	chr4	72618268	72618268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagaggaggtgagtttatGgaacagcagttggaggcaaa	15	3	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:72618268G>A	uc003hge.2	-	11	1515	c.1362C>T	c.(1360-1362)TCC>TCT	p.S454S	GC_uc003hgd.2_Silent_p.S332S|GC_uc010iie.2_Silent_p.S454S|GC_uc010iif.2_Silent_p.S473S	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	454	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTGAGTTTATGGAACAGCAGT	0.453													A	72618268	G	A	72618268	2	1	236	1	0	0	0	0	0	0	0	1	6282	1335	47	4		4	GC	4	72618268	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	15406904	72618268	118536008	265	119442											
CXCL9	4283	broad.mit.edu	37	chr4	76927393	76927393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccttggttggtgctgatGcaggaacagcgaccctttct	12	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:76927393G>A	uc003hjh.1	-	2	138	c.99C>T	c.(97-99)TGC>TGT	p.C33C		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	33					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGTGCTGATGCAGGAACAGC	0.428													A	76927393	G	A	76927393	2	1	236	1	0	0	0	0	0	0	0	1	4089	1311	46	2		2	CXCL9	4	76927393	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4309125	76927393	114226883	266	119443											
SPARCL1	8404	broad.mit.edu	37	chr4	88415530	88415530	+	Frame_Shift_Del	DEL	A	A	-													aggaactaacaccaggagccAaaaaatcagtgttctctgag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:88415529_88415529CA>C	uc010ikm.3	-	4	995	c.423_423TG>G	c.(421-423)ttgfs	p.L141fs	SPARCL1_uc011cdc.2_Frame_Shift_Del_p.L16fs|SPARCL1_uc003hqs.4_Frame_Shift_Del_p.L141fs|SPARCL1_uc011cdd.2_Frame_Shift_Del_p.L16fs	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	141					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)		CACCAGGAGCCAAAAAATCAG	0.383													-	88415530	A	-	88415530	7	5	236	1	0	1	0	1	0	0	0	0	14995	131	5	0	1604	0	SPARCL1	4	88415530	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	11488137	88415530	102738746	267	119444											
FAM13A	10144	broad.mit.edu	37	chr4	89670128	89670128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgtctccggaatttggcAaggtcatttgtccatttcag	10	8	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:89670128A>G	uc003hse.1	-	17	2344	c.2136T>C	c.(2134-2136)CTT>CTC	p.L712L	FAM13A_uc003hsa.1_Silent_p.L183L|FAM13A_uc003hsb.1_Silent_p.L386L|FAM13A_uc003hsd.1_Silent_p.L386L|FAM13A_uc003hsc.1_Silent_p.L372L|FAM13A_uc011cdq.1_Silent_p.L358L|FAM13A_uc003hsf.1_Silent_p.L298L|FAM13A_uc003hsg.1_Silent_p.L183L|FAM13A_uc010ikr.1_Silent_p.L208L	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	712	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						GGAATTTGGCAAGGTCATTTG	0.483													G	89670128	A	G	89670128	2	3	236	1	0	0	0	0	0	0	0	1	5452	117	5	3		3	FAM13A	4	89670128	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1254598	89670128	101484148	268	119445											
MTTP	4547	broad.mit.edu	37	chr4	100510863	100510863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatatcaagagaggtctgGctagcctatttcagacacag	9	8	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:100510863G>T	uc003hvc.3	+	5	713	c.457G>T	c.(457-459)GCT>TCT	p.A153S	MTTP_uc011cej.1_Missense_Mutation_p.A180S	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	153	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAGAGGTCTGGCTAGCCTATT	0.398													T	100510863	G	T	100510863	3	4	236	1	0	0	0	0	1	0	0	0	9964	1203	42	5	471	5	MTTP	4	100510863	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	10840735	100510863	90643413	269	119446											
ENPEP	2028	broad.mit.edu	37	chr4	111412242	111412243	+	Frame_Shift_Ins	INS	-	-	C													caacttttgagaagtctgtcINScccatgagcacgtacctggt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:111412241_111412242T>TC	uc003iab.4	+	2	1181_1182	c.839_840T>TC	c.(838-840)gtcfs	p.V280fs		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	280					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)	GAGAAGTCTGTCCCCATGAGCA	0.337													C	111412243	-	C	111412242	7	5	236	1	0	1	1	0	0	0	0	0	5128	842	30	0	850	0	ENPEP	4	111412242	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	10901379	111412242	79742034	270	119447											
USP53	54532	broad.mit.edu	37	chr4	120192809	120192809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgatagtatttttagTgaaagtgaaaaaagacagca	9	2	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:120192809T>C	uc003ics.3	+	15	2860	c.1794T>C	c.(1792-1794)AGT>AGC	p.S598S	USP53_uc003icr.3_Silent_p.S598S|USP53_uc003icu.3_Silent_p.S221S|USP53_uc003ict.2_Silent_p.S221S	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	598					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						GTATTTTTAGTGAAAGTGAAA	0.368													C	120192809	T	C	120192809	2	2	236	1	0	0	0	0	0	0	0	1	17081	1693	59	3		3	USP53	4	120192809	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	8780567	120192809	70961467	271	119448											
BBS7	55212	broad.mit.edu	37	chr4	122774171	122774171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatacacttccaccattccGtcatctctcccaacaagtaa	2	16	2	0	rs140478463		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:122774171G>A	uc003ied.2	-	8	963	c.789C>T	c.(787-789)GAC>GAT	p.D263D	BBS7_uc003iee.1_Silent_p.D263D	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	263					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			ovary(1)	1						CCACCATTCCGTCATCTCTCC	0.323									Bardet-Biedl_syndrome				A	122774171	G	A	122774171	2	1	236	1	0	0	0	0	0	0	0	1	1341	1136	40	1		1	BBS7	4	122774171	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2581362	122774171	68380105	272	119449											
PCDH10	57575	broad.mit.edu	37	chr4	134072659	134072659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccaggtacaagtgtcggAtgtgaacgacaacgcgccgc	13	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:134072659A>G	uc003iha.2	+	1	2190	c.1364A>G	c.(1363-1365)GAT>GGT	p.D455G	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D455G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	455	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CAAGTGTCGGATGTGAACGAC	0.622													G	134072659	A	G	134072659	3	3	236	1	0	0	0	0	1	0	0	0	11507	333	12	3	1366	3	PCDH10	4	134072659	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	11298488	134072659	57081617	273	119450											
PCDH18	54510	broad.mit.edu	37	chr4	138451760	138451760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacttgcccattttctcCaagatcaggatctgtggctg	9	11	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:138451760C>T	uc003ihe.3	-	1	1870	c.1483G>A	c.(1483-1485)GGA>AGA	p.G495R	PCDH18_uc003ihf.3_Missense_Mutation_p.G488R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.G275R|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	495	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCATTTTCTCCAAGATCAGGA	0.413													T	138451760	C	T	138451760	3	4	236	1	0	0	0	0	1	0	0	0	11513	603	21	4	1940	4	PCDH18	4	138451760	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4379101	138451760	52702516	274	119451											
DCLK2	166614	broad.mit.edu	37	chr4	151000401	151000401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagaaggccaagaaggcGcgcttctaccggaacgggga	16	9	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:151000401G>A	uc003ilm.3	+	1	322	c.222G>A	c.(220-222)GCG>GCA	p.A74A	DCLK2_uc003iln.3_Silent_p.A74A|DCLK2_uc003ilo.3_Silent_p.A74A|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	74	Doublecortin 1.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					CCAAGAAGGCGCGCTTCTACC	0.647													A	151000401	G	A	151000401	2	1	236	1	0	0	0	0	0	0	0	1	4292	1074	38	1		1	DCLK2	4	151000401	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	12548641	151000401	40153875	275	119452											
FHDC1	85462	broad.mit.edu	37	chr4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-													agaaaaagcggatgagaagcTttttttggaaaactattccg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	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)					GGATGAGAAGCTTTTTTTGGA	0.512													-	153864507	T	-	153864507	7	5	236	1	0	1	0	1	0	0	0	0	5876	1609	56	0	300	0	FHDC1	4	153864507	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	2864106	153864507	37289769	276	119453											
SFRP2	6423	broad.mit.edu	37	chr4	154709663	154709663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggcatggctggatggtctCgtctaggtcatcgaggcaga	16	8	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:154709663C>T	uc003inv.1	-	1	566	c.325G>A	c.(325-327)GAG>AAG	p.E109K		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	109	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TGGATGGTCTCGTCTAGGTCA	0.652													T	154709663	C	T	154709663	3	4	236	1	0	0	0	0	1	0	0	0	14162	893	31	1	574	1	SFRP2	4	154709663	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	845156	154709663	36444613	277	119454											
GRIA2	2891	broad.mit.edu	37	chr4	158224724	158224724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcccagttttcgagaGgagtctatgctatttttgga	10	8	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:158224724G>A	uc003ipm.3	+	3	709	c.250G>A	c.(250-252)GGA>AGA	p.G84R	GRIA2_uc011cit.1_Missense_Mutation_p.G37R|GRIA2_uc003ipl.3_Missense_Mutation_p.G84R|GRIA2_uc003ipk.3_Missense_Mutation_p.G37R|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	84	Extracellular (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTTTTCGAGAGGAGTCTATGC	0.378													A	158224724	G	A	158224724	3	1	236	1	0	0	0	0	1	0	0	0	6768	1001	35	4	260	4	GRIA2	4	158224724	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3515061	158224724	32929552	278	119455											
GRIA2	2891	broad.mit.edu	37	chr4	158233935	158233935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacaagaaagatgagatgTaccgatcactttttcaagat	8	6	2	5			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:158233935T>C	uc003ipm.3	+	4	1033	c.574T>C	c.(574-576)TAC>CAC	p.Y192H	GRIA2_uc011cit.1_Missense_Mutation_p.Y145H|GRIA2_uc003ipl.3_Missense_Mutation_p.Y192H|GRIA2_uc003ipk.3_Missense_Mutation_p.Y145H|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	192	Extracellular (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGATGAGATGTACCGATCACT	0.403													C	158233935	T	C	158233935	3	2	236	1	0	0	0	0	1	0	0	0	6768	1638	57	3	588	3	GRIA2	4	158233935	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	9211	158233935	32920341	279	119456											
TLL1	7092	broad.mit.edu	37	chr4	166913974	166913974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggacttggagaccatgCtatgtcaaagaagcgagggg	16	6	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:166913974C>A	uc003irh.1	+	3	946	c.299C>A	c.(298-300)GCT>GAT	p.A100D	TLL1_uc011cjn.1_Missense_Mutation_p.A100D|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	100					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGAGACCATGCTATGTCAAAG	0.358													A	166913974	C	A	166913974	3	1	236	1	0	0	0	0	1	0	0	0	15942	797	28	5	309	5	TLL1	4	166913974	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	8680039	166913974	24240302	280	119457											
TLL1	7092	broad.mit.edu	37	chr4	166986981	166986981	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatctgacaatactgtAtccaagaagggcttcaaagc	7	9	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:166986981A>G	uc003irh.1	+	16	2801	c.2154A>G	c.(2152-2154)GTA>GTG	p.V718V	TLL1_uc011cjn.1_Silent_p.V741V|TLL1_uc011cjo.1_Silent_p.V542V	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	718	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACAATACTGTATCCAAGAAGG	0.363													G	166986981	A	G	166986981	2	3	236	1	0	0	0	0	0	0	0	1	15942	436	16	3		3	TLL1	4	166986981	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	73007	166986981	24167295	281	119458											
SORBS2	8470	broad.mit.edu	37	chr4	186578702	186578702	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagggggatagagctgctgGtggtgccatccagagactgc	16	9	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:186578702G>C	uc003iyl.2	-	6	1001	c.143C>G	c.(142-144)ACC>AGC	p.T48S	SORBS2_uc003iyh.2_Missense_Mutation_p.T227S|SORBS2_uc011ckw.1_Missense_Mutation_p.T117S|SORBS2_uc003iyi.2_Missense_Mutation_p.T134S|SORBS2_uc011ckx.1_Missense_Mutation_p.T94S|SORBS2_uc003iyk.2_Missense_Mutation_p.T134S|SORBS2_uc003iym.2_Missense_Mutation_p.T148S|SORBS2_uc003iyn.1_Missense_Mutation_p.T94S|SORBS2_uc011cky.1_Missense_Mutation_p.T111S|SORBS2_uc003iyp.2_Missense_Mutation_p.T148S|SORBS2_uc011cku.1_5'Flank|SORBS2_uc011ckv.1_5'Flank|SORBS2_uc003iyd.2_Missense_Mutation_p.T227S|SORBS2_uc003iye.2_Missense_Mutation_p.T48S|SORBS2_uc003iya.2_Missense_Mutation_p.T48S|SORBS2_uc003iyb.2_Missense_Mutation_p.T48S|SORBS2_uc003iyc.2_Missense_Mutation_p.T48S|SORBS2_uc003iyg.2_Missense_Mutation_p.T134S|SORBS2_uc003iyf.2_Missense_Mutation_p.T111S|SORBS2_uc003iyo.1_5'Flank	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	48						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		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)		AGAGCTGCTGGTGGTGCCATC	0.522													C	186578702	G	C	186578702	3	2	236	1	0	0	0	0	1	0	0	0	14928	1261	44	5	3563	5	SORBS2	4	186578702	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	19591721	186578702	4575574	282	119459											
TERT	7015	broad.mit.edu	37	chr5	1294898	1294898	+	Frame_Shift_Del	DEL	G	G	-													aggcccacctggcggaaggaGggggcggcggggggcggccg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:1294898delG	uc003jcb.1	-	1	265	c.207delC	c.(205-207)CCCfs	p.P69fs	TERT_uc003jca.1_Frame_Shift_Del_p.P69fs|TERT_uc003jcc.1_Frame_Shift_Del_p.P69fs|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	69	RNA-interacting domain 1.|GQ motif.				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			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	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)			GGCGGAAGGAgggggcggcgg	0.682									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				-	1294898	G	-	1294898	7	5	236	1	0	1	0	1	0	0	0	0	15761	987	35	0	3255	0	TERT	5	1294898	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08		1294898	179620362	283	119460											
DNAH5	1767	broad.mit.edu	37	chr5	13714533	13714533	+	Frame_Shift_Del	DEL	G	G	-													cttcaaaggggacatagtctGggggcagcttctccagcata							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:13714532_13714532TG>T	uc003jfd.2	-	74	13149	c.13107_13107CA>A	c.(13105-13107)ccafs	p.P4369fs	DNAH5_uc003jfc.2_Frame_Shift_Del_p.P537fs	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4369					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)					GGACATAGTCTGGGGGCAGCT	0.557									Kartagener syndrome				-	13714533	G	-	13714533	7	5	236	1	0	1	0	1	0	0	0	0	4604	1348	47	0	788	0	DNAH5	5	13714533	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	12419635	13714533	167200727	284	119461											
DNAH5	1767	broad.mit.edu	37	chr5	13809168	13809168	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cataccttgccctgtttagcAatggtttgaattagaaagtc	8	8	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:13809168A>G	uc003jfd.2	-	46	7779	c.7737T>C	c.(7735-7737)ATT>ATC	p.I2579I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2579	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCTGTTTAGCAATGGTTTGAA	0.368									Kartagener_syndrome				G	13809168	A	G	13809168	2	3	236	1	0	0	0	0	0	0	0	1	4604	126	5	3		3	DNAH5	5	13809168	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	94635	13809168	167106092	285	119462											
DNAH5	1767	broad.mit.edu	37	chr5	13811783	13811783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcaggccttgaagcatGttaatgctctgtgtgatgac	12	7	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:13811783G>A	uc003jfd.2	-	44	7422	c.7380C>T	c.(7378-7380)AAC>AAT	p.N2460N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2460					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTTGAAGCATGTTAATGCTCT	0.418									Kartagener_syndrome				A	13811783	G	A	13811783	2	1	236	1	0	0	0	0	0	0	0	1	4604	1368	48	4		4	DNAH5	5	13811783	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2615	13811783	167103477	286	119463											
ZNF622	90441	broad.mit.edu	37	chr5	16453248	16453248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagtatctcatcaaggagcGatgacccactctggcacctg	10	12	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:16453248G>A	uc003jfq.2	-	5	1300	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	394						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						ATCAAGGAGCGATGACCCACT	0.463													A	16453248	G	A	16453248	3	1	236	1	0	0	0	0	1	0	0	0	18043	1058	37	1	261	1	ZNF622	5	16453248	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2641465	16453248	164462012	287	119464											
CDH18	1016	broad.mit.edu	37	chr5	19571934	19571934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacttctttttctcatagTtcagtggctgtggggaaaaa	10	6	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:19571934T>C	uc003jgc.2	-	7	1384	c.1007A>G	c.(1006-1008)AAC>AGC	p.N336S	CDH18_uc003jgd.2_Missense_Mutation_p.N336S|CDH18_uc011cnm.1_Missense_Mutation_p.N336S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	336	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTCTCATAGTTCAGTGGCTG	0.299													C	19571934	T	C	19571934	3	2	236	1	0	0	0	0	1	0	0	0	3103	1725	60	3	1389	3	CDH18	5	19571934	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	3118686	19571934	161343326	288	119465											
CDH12	1010	broad.mit.edu	37	chr5	21975261	21975261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaactttggctcattAtcattaatatcctgcacttt	3	10	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:21975261A>G	uc010iuc.2	-	3	923	c.465T>C	c.(463-465)GAT>GAC	p.D155D	CDH12_uc011cno.1_Silent_p.D155D|CDH12_uc003jgk.2_Silent_p.D155D	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	155	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TTGGCTCATTATCATTAATAT	0.418										HNSCC(59;0.17)			G	21975261	A	G	21975261	2	3	236	1	0	0	0	0	0	0	0	1	3098	446	16	3		3	CDH12	5	21975261	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2403327	21975261	158939999	289	119466											
CDH9	1007	broad.mit.edu	37	chr5	26890634	26890634	+	Frame_Shift_Del	DEL	A	A	-													ccattttctgagtgaataccAaaaatacggtccatatcagt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:26890633_26890633CA>C	uc003jgs.1	-	7	1463	c.1294_1294TG>G	c.(1294-1296)ggtfs	p.G432fs	CDH9_uc011cnv.1_Frame_Shift_Del_p.G25fs	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	432	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G432G(1)		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						GAGTGAATACCAAAAATACGG	0.393													-	26890634	A	-	26890634	7	5	236	1	0	1	0	1	0	0	0	0	3117	127	5	0	1096	0	CDH9	5	26890634	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	4915373	26890634	154024626	290	119467											
PDZD2	23037	broad.mit.edu	37	chr5	32074276	32074276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccaagaggaacgacccCggaaaacactggtgagcaag	11	11	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:32074276C>T	uc003jhl.2	+	18	3452	c.3064C>T	c.(3064-3066)CGG>TGG	p.R1022W	PDZD2_uc003jhm.2_Missense_Mutation_p.R1022W|PDZD2_uc011cnx.1_Missense_Mutation_p.R848W	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1022					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGAACGACCCCGGAAAACACT	0.577													T	32074276	C	T	32074276	3	4	236	1	0	0	0	0	1	0	0	0	11701	643	23	1	3130	1	PDZD2	5	32074276	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5183642	32074276	148840984	291	119468											
RXFP3	51289	broad.mit.edu	37	chr5	33937425	33937425	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaagagccaccggaccCgaggacacggccggggcgac	15	15	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:33937425C>T	uc003jic.1	+	1	937	c.580C>T	c.(580-582)CGA>TGA	p.R194*		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	194	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCACCGGACCCGAGGACACGG	0.657													T	33937425	C	T	33937425	4	4	236	1	0	0	0	0	0	1	0	0	13761	644	23	1	582	1	RXFP3	5	33937425	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1863149	33937425	146977835	292	119469											
RXFP3	51289	broad.mit.edu	37	chr5	33938066	33938066	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagcctgctgtggcgcatCgcgtctccttcgatcaccag	11	14	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:33938066C>T	uc003jic.1	+	1	1578	c.1221C>T	c.(1219-1221)ATC>ATT	p.I407I		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	407	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						TGTGGCGCATCGCGTCTCCTT	0.572													T	33938066	C	T	33938066	2	4	236	1	0	0	0	0	0	0	0	1	13761	874	31	1		1	RXFP3	5	33938066	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	641	33938066	146977194	293	119470											
NIPBL	25836	broad.mit.edu	37	chr5	36976448	36976448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attggctgaaattgagcgaaTagagagagaatcagctattg	12	4	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:36976448T>C	uc003jkl.3	+	9	1938	c.1439T>C	c.(1438-1440)ATA>ACA	p.I480T	NIPBL_uc003jkk.3_Missense_Mutation_p.I480T|NIPBL_uc003jkm.1_Missense_Mutation_p.I359T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	480					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			ATTGAGCGAATAGAGAGAGAA	0.383													C	36976448	T	C	36976448	3	2	236	1	0	0	0	0	1	0	0	0	10428	1406	49	3	1469	3	NIPBL	5	36976448	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	3038382	36976448	143938812	294	119471											
DAB2	1601	broad.mit.edu	37	chr5	39388902	39388902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcacatattaatacataccGatttcagtttgttagtttgg	7	6	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:39388902G>A	uc003jlx.2	-	8	1154	c.623C>T	c.(622-624)TCG>TTG	p.S208L	DAB2_uc003jlw.2_Missense_Mutation_p.S208L	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	208					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			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AATACATACCGATTTCAGTTT	0.338													A	39388902	G	A	39388902	3	1	236	1	0	0	0	0	1	0	0	0	4218	1072	37	1	1717	1	DAB2	5	39388902	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2412454	39388902	141526358	295	119472											
DHX29	54505	broad.mit.edu	37	chr5	54572100	54572100	+	Frame_Shift_Del	DEL	T	T	-													tattttctttttacctgataTttttttattccccctgcttt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:54572099_54572099AT>A	uc003jpx.3	-	13	2542	c.2422_2422AT>T	c.(2422-2424)tatfs	p.Y808fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	808							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)				TTTACCTGATATTTTTTTATT	0.333													-	54572100	T	-	54572100	7	5	236	1	0	1	0	1	0	0	0	0	4503	1490	52	0	1744	0	DHX29	5	54572100	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	15183198	54572100	126343160	296	119473											
IL31RA	133396	broad.mit.edu	37	chr5	55168250	55168251	+	Frame_Shift_Del	DEL	AT	AT	-													agatggtgtaattaaatctcAtatgacatactggagattag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:55168250_55168251delAT	uc003jql.2	+	4	490_491	c.425_426delAT	c.(424-426)CATfs	p.H142fs	IL31RA_uc003jqk.2_Frame_Shift_Del_p.H142fs|IL31RA_uc011cqj.1_5'UTR|IL31RA_uc003jqm.2_Frame_Shift_Del_p.H110fs|IL31RA_uc003jqn.2_Frame_Shift_Del_p.H142fs|IL31RA_uc010iwa.1_Frame_Shift_Del_p.H110fs|IL31RA_uc003jqo.2_5'UTR	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	110	Extracellular (Potential).|Fibronectin type-III 1.				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			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTAAATCTCATATGACATACT	0.347													-	55168251	AT	-	55168250	7	5	236	1	0	1	0	1	0	0	0	0	7691	217	8	0	439	0	IL31RA	5	55168250	Frame_Shift_Del	DEL	AT	TCGA-F1-6874-01A-11D-1882-08	596150	55168250	125747010	297	119474											
IPO11	51194	broad.mit.edu	37	chr5	61763069	61763069	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattttgagttcactagaaCgaacactgctatcattgaaa	6	8	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:61763069C>T	uc003jtc.2	+	6	818	c.628C>T	c.(628-630)CGA>TGA	p.R210*	IPO11_uc011cqr.1_Nonsense_Mutation_p.R250*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R210*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	210	HEAT 2.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTCACTAGAACGAACACTGCT	0.373													T	61763069	C	T	61763069	4	4	236	1	0	0	0	0	0	1	0	0	7793	528	19	1	770	1	IPO11	5	61763069	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6594819	61763069	119152191	298	119475											
MAP1B	4131	broad.mit.edu	37	chr5	71492991	71492992	+	Frame_Shift_Ins	INS	-	-	C													ccatcacccttagaaaagacINSccccctgggtgaacgtagtg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:71492990_71492991A>AC	uc003kbw.4	+	4	4049_4050	c.3808_3809A>AC	c.(3808-3810)accfs	p.T1270fs	MAP1B_uc010iyw.1_Frame_Shift_Ins_p.T1287fs|MAP1B_uc010iyx.1_Frame_Shift_Ins_p.T1144fs|MAP1B_uc010iyy.1_Frame_Shift_Ins_p.T1144fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1270						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)		CTTAGAAAAGACCCCCCTGGGT	0.515													C	71492992	-	C	71492991	7	5	236	1	0	1	1	0	0	0	0	0	9228	507	18	0	3827	0	MAP1B	5	71492991	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	9729922	71492991	109422269	299	119476											
RGNEF	64283	broad.mit.edu	37	chr5	73205327	73205327	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggccactctatcctcCgaggcggccccttgcaggac	10	18	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:73205327C>T	uc011csq.1	+	33	4263	c.4252C>T	c.(4252-4254)CGA>TGA	p.R1418*	RGNEF_uc003kcx.2_Nonsense_Mutation_p.R1418*|RGNEF_uc010izf.2_Nonsense_Mutation_p.R1418*|RGNEF_uc011csr.1_Nonsense_Mutation_p.R1105*|RGNEF_uc003kcz.3_Nonsense_Mutation_p.R382*|RGNEF_uc003kda.3_Nonsense_Mutation_p.R338*	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	1418					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CTCTATCCTCCGAGGCGGCCC	0.627													T	73205327	C	T	73205327	4	4	236	1	0	0	0	0	0	1	0	0	13283	644	23	1	4382	1	RGNEF	5	73205327	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1712336	73205327	107709933	300	119477											
CMYA5	202333	broad.mit.edu	37	chr5	79025081	79025081	+	Frame_Shift_Del	DEL	A	A	-													cccaagatgttccaacaaacAaaaaaggcagtcctttaact							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:79025080_79025080CA>C	uc003kgc.3	+	1	564	c.492_492CA>C	c.(490-492)aacfs	p.N164fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	164						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)		TTCCAACAAACAAAAAAGGCA	0.388													-	79025081	A	-	79025081	7	5	236	1	0	1	0	1	0	0	0	0	3590	131	5	0	499	0	CMYA5	5	79025081	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	5819754	79025081	101890179	301	119478											
HAPLN1	1404	broad.mit.edu	37	chr5	82948434	82948434	+	Frame_Shift_Del	DEL	T	T	-													accctggtagcctccataggTttttttgtggtatcccatgg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:82948433_82948433GT>G	uc003kim.3	-	1	382	c.311_311AC>C	c.(310-312)accfs	p.T104fs	HAPLN1_uc003kin.3_Frame_Shift_Del_p.T104fs	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	104	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.T104fs*8(4)		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)		GCCTCCATAGGTTTTTTTGTG	0.443													-	82948434	T	-	82948434	7	5	236	1	0	1	0	1	0	0	0	0	6954	1725	60	0	766	0	HAPLN1	5	82948434	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	3923353	82948434	97966826	302	119479											
SEMA6A	57556	broad.mit.edu	37	chr5	115783169	115783169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggtggtgctggtctgCtttaatgagcatcttggccg	14	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:115783169C>A	uc010jck.2	-	19	2942	c.2233G>T	c.(2233-2235)GCA>TCA	p.A745S	SEMA6A_uc003krx.3_Missense_Mutation_p.A762S|SEMA6A_uc011cwe.1_Missense_Mutation_p.A124S|SEMA6A_uc003krv.3_Missense_Mutation_p.A172S|SEMA6A_uc003krw.3_Missense_Mutation_p.A222S|SEMA6A_uc010jcj.2_Missense_Mutation_p.A289S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	745	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		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)		TGCTGGTCTGCTTTAATGAGC	0.637													A	115783169	C	A	115783169	3	1	236	1	0	0	0	0	1	0	0	0	14039	797	28	5	863	5	SEMA6A	5	115783169	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	32834735	115783169	65132091	303	119480											
CDC23	8697	broad.mit.edu	37	chr5	137533959	137533959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagccagataactcaactccGatttcatgctctgggataaa	8	10	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:137533959G>A	uc003lcl.2	-	9	972	c.941C>T	c.(940-942)TCG>TTG	p.S314L		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	314					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				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTCAACTCCGATTTCATGCT	0.328													A	137533959	G	A	137533959	3	1	236	1	0	0	0	0	1	0	0	0	3061	1059	37	1	884	1	CDC23	5	137533959	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	21750790	137533959	43381301	304	119481											
EGR1	1958	broad.mit.edu	37	chr5	137803660	137803660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttccccctgctttcccgGcccaggtcagcagcttccct	8	19	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:137803660G>A	uc003ldb.1	+	2	1792	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	EGR1_uc011cyu.1_Silent_p.R164R	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	508					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGCTTTCCCGGCCCAGGTCAG	0.502													A	137803660	G	A	137803660	3	1	236	1	0	0	0	0	1	0	0	0	4971	1203	42	2	1528	2	EGR1	5	137803660	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	269701	137803660	43111600	305	119482											
PCDHA3	56145	broad.mit.edu	37	chr5	140183010	140183010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgctggtgtgctccaGcgcggtggggagctggtcat	17	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140183010G>A	uc003lhf.2	+	1	2228	c.2228G>A	c.(2227-2229)AGC>AAC	p.S743N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S743N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	743	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCAGCGCGGTGGGG	0.637													A	140183010	G	A	140183010	3	1	236	1	0	0	0	0	1	0	0	0	11525	971	34	2	2230	2	PCDHA3	5	140183010	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2379350	140183010	40732250	306	119483											
PCDHA9	9752	broad.mit.edu	37	chr5	140229418	140229418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgtctgtggaggtggcCgacgtgaacgacaacgcacc	16	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140229418C>T	uc003lhu.2	+	1	2062	c.1338C>T	c.(1336-1338)GCC>GCT	p.A446A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A446A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	446	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCCGACGTGAACG	0.662													T	140229418	C	T	140229418	2	4	236	1	0	0	0	0	0	0	0	1	11531	639	23	1		1	PCDHA9	5	140229418	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	46408	140229418	40685842	307	119484											
PCDHA10	56139	broad.mit.edu	37	chr5	140237615	140237615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccgtcgctgacggccaCggccactgtgcttgtgtcgc	14	15	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140237615C>T	uc003lhx.2	+	1	1982	c.1982C>T	c.(1981-1983)ACG>ATG	p.T661M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.T661M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	661	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCCACTGTG	0.682													T	140237615	C	T	140237615	3	4	236	1	0	0	0	0	1	0	0	0	11520	536	19	1	1984	1	PCDHA10	5	140237615	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	8197	140237615	40677645	308	119485											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755201	140755201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggattctgtacgccctGcgctccttcgactatgagca	10	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140755201G>A	uc003ljy.1	+	1	1551	c.1551G>A	c.(1549-1551)CTG>CTA	p.L517L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.L517L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	517	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACGCCCTGCGCTCCTTCG	0.607													A	140755201	G	A	140755201	2	1	236	1	0	0	0	0	0	0	0	1	11558	1306	46	2		2	PCDHGA6	5	140755201	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	517586	140755201	40160059	309	119486											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810726	140810726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgacaatgcgccttactttCgtgaaagtgaattagaaata	8	7	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140810726C>T	uc003lkt.1	+	1	569	c.400C>T	c.(400-402)CGT>TGT	p.R134C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R134C	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	134	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTACTTTCGTGAAAGTGA	0.408													T	140810726	C	T	140810726	3	4	236	1	0	0	0	0	1	0	0	0	11553	884	31	1	402	1	PCDHGA12	5	140810726	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	55525	140810726	40104534	310	119487											
PCDH1	5097	broad.mit.edu	37	chr5	141242828	141242828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatttgggggggttggtgCggtagctgtagtcggagtac	20	4	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:141242828C>T	uc003llq.2	-	3	3185	c.3068G>A	c.(3067-3069)CGC>CAC	p.R1023H	PCDH1_uc003llp.2_Missense_Mutation_p.R1023H|PCDH1_uc011dbf.1_Missense_Mutation_p.R1001H	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	1023	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		GGGGTTGGTGCGGTAGCTGTA	0.632													T	141242828	C	T	141242828	3	4	236	1	0	0	0	0	1	0	0	0	11506	768	27	1	741	1	PCDH1	5	141242828	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	432102	141242828	39672432	311	119488											
SPRY4	81848	broad.mit.edu	37	chr5	141693947	141693947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggcagggcagcaccaCggagagagcacccatgaagg	16	11	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:141693947C>T	uc003lml.2	-	2	986	c.727G>A	c.(727-729)GTG>ATG	p.V243M	SPRY4_uc010jgi.1_Missense_Mutation_p.V266M	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	243	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGCACCACGGAGAGAGCA	0.682									Testicular_Cancer_Familial_Clustering_of				T	141693947	C	T	141693947	3	4	236	1	0	0	0	0	1	0	0	0	15107	536	19	1	176	1	SPRY4	5	141693947	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	451119	141693947	39221313	312	119489											
POU4F3	5459	broad.mit.edu	37	chr5	145719802	145719802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagccagagctcttcaacgGcagcgaacggaagcgcaaac	11	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145719802G>A	uc003loa.2	+	2	901	c.812G>A	c.(811-813)GGC>GAC	p.G271D		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	271					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTTCAACGGCAGCGAACGG	0.597													A	145719802	G	A	145719802	3	1	236	1	0	0	0	0	1	0	0	0	12280	1203	42	2	818	2	POU4F3	5	145719802	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4025855	145719802	35195458	313	119490											
GPR151	134391	broad.mit.edu	37	chr5	145895164	145895164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgctaaagaaccattcCggcaggggtaacaggctagc	13	9	0	1	rs111754680		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145895164C>T	uc003lod.1	-	1	513	c.513G>A	c.(511-513)CCG>CCA	p.P171P		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCATTCCGGCAGGGGTA	0.512													T	145895164	C	T	145895164	2	4	236	1	0	0	0	0	0	0	0	1	6657	639	23	1		1	GPR151	5	145895164	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	175362	145895164	35020096	314	119491											
PPP2R2B	5521	broad.mit.edu	37	chr5	145969561	145969561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatttgtagccgccactgcTataatattttctgaaggatg	8	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145969561T>C	uc003loe.2	-	9	1806	c.1281A>G	c.(1279-1281)ATA>ATG	p.I427M	PPP2R2B_uc010jgm.2_Missense_Mutation_p.I416M|PPP2R2B_uc003log.3_Missense_Mutation_p.I427M|PPP2R2B_uc003lof.3_Missense_Mutation_p.I427M|PPP2R2B_uc003loi.3_Missense_Mutation_p.I430M|PPP2R2B_uc003loh.3_Missense_Mutation_p.I427M|PPP2R2B_uc003loj.3_Missense_Mutation_p.I407M|PPP2R2B_uc003lok.3_Missense_Mutation_p.I416M|PPP2R2B_uc011dbu.1_Missense_Mutation_p.I433M|PPP2R2B_uc011dbv.1_Missense_Mutation_p.I485M	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	427	WD 7.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCCACTGCTATAATATTTT	0.403													C	145969561	T	C	145969561	3	2	236	1	0	0	0	0	1	0	0	0	12385	1512	53	3	54	3	PPP2R2B	5	145969561	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	74397	145969561	34945699	315	119492											
PPP2R2B	5521	broad.mit.edu	37	chr5	145969731	145969731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaagggtcacatcacGcttggtgtttctgtcgaaca	10	11	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145969731G>A	uc003loe.2	-	9	1636	c.1111C>T	c.(1111-1113)CGT>TGT	p.R371C	PPP2R2B_uc010jgm.2_Missense_Mutation_p.R360C|PPP2R2B_uc003log.3_Missense_Mutation_p.R371C|PPP2R2B_uc003lof.3_Missense_Mutation_p.R371C|PPP2R2B_uc003loi.3_Missense_Mutation_p.R374C|PPP2R2B_uc003loh.3_Missense_Mutation_p.R371C|PPP2R2B_uc003loj.3_Missense_Mutation_p.R351C|PPP2R2B_uc003lok.3_Missense_Mutation_p.R360C|PPP2R2B_uc011dbu.1_Missense_Mutation_p.R377C|PPP2R2B_uc011dbv.1_Missense_Mutation_p.R429C	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	371	WD 6.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACATCACGCTTGGTGTTT	0.512													A	145969731	G	A	145969731	3	1	236	1	0	0	0	0	1	0	0	0	12385	1087	38	1	224	1	PPP2R2B	5	145969731	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	170	145969731	34945529	316	119493											
SPINK5	11005	broad.mit.edu	37	chr5	147488329	147488329	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attacagcaaacttgaagaaGaagagaagaaaaatgataaa	8	3	0	6			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:147488329G>A	uc003lox.2	+	18	1694	c.1621G>A	c.(1621-1623)GAA>AAA	p.E541K	SPINK5_uc010jgs.1_Missense_Mutation_p.E513K|SPINK5_uc010jgr.2_Missense_Mutation_p.E522K|SPINK5_uc003low.2_Missense_Mutation_p.E541K|SPINK5_uc003loy.2_Missense_Mutation_p.E541K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	541	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTgaagaagaagagaagaa	0.214													A	147488329	G	A	147488329	3	1	236	1	0	0	0	0	1	0	0	0	15061	943	33	4	1691	4	SPINK5	5	147488329	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1518598	147488329	33426931	317	119494											
AFAP1L1	134265	broad.mit.edu	37	chr5	148680716	148680716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtgacctgagtgaccttCgggacatgccagaggatgat	13	9	0	5			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:148680716C>T	uc003lqh.2	+	4	381	c.250C>T	c.(250-252)CGG>TGG	p.R84W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R84W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R84W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	84				R -> Q (in Ref. 2; BAC04664).			protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGACCTTCGGGACATGCC	0.473													T	148680716	C	T	148680716	3	4	236	1	0	0	0	0	1	0	0	0	354	875	31	1	264	1	AFAP1L1	5	148680716	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1192387	148680716	32234544	318	119495											
CSF1R	1436	broad.mit.edu	37	chr5	149457719	149457719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaaagttaacatcaaCgctgctggctgagcacacga	9	11	2	1	rs149911279		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:149457719C>T	uc003lrl.2	-	4	880	c.685G>A	c.(685-687)GTT>ATT	p.V229I	CSF1R_uc011dcd.1_Missense_Mutation_p.V81I|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.V229I|CSF1R_uc011dce.1_Missense_Mutation_p.V229I|CSF1R_uc011dcf.1_Missense_Mutation_p.V229I	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	229	Extracellular (Potential).|Ig-like C2-type 3.				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			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTAACATCAACGCTGCTGGCT	0.577													T	149457719	C	T	149457719	3	4	236	1	0	0	0	0	1	0	0	0	3932	536	19	1	2305	1	CSF1R	5	149457719	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	777003	149457719	31457541	319	119496											
PDGFRB	5159	broad.mit.edu	37	chr5	149515386	149515386	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgggggtgtgacgaccagGccctgagagatctgtggttc	16	11	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:149515386G>T	uc003lro.2	-	3	565	c.96C>A	c.(94-96)GGC>GGA	p.G32G	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.G32G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	32					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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	TGACGACCAGGCCCTGAGAGA	0.582			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149515386	G	T	149515386	2	4	236	1	0	0	0	0	0	0	0	1	11662	1190	42	5		5	PDGFRB	5	149515386	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	57667	149515386	31399874	320	119497											
SYNPO	11346	broad.mit.edu	37	chr5	150028591	150028591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgccagggggcaccAgccagatggagaggagcccc	16	14	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:150028591A>C	uc003lsn.2	+	3	1860	c.1486A>C	c.(1486-1488)AGC>CGC	p.S496R	SYNPO_uc003lso.3_Missense_Mutation_p.S252R|SYNPO_uc003lsp.2_Missense_Mutation_p.S252R	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	496					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			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGGGCACCAGCCAGATGGA	0.642													C	150028591	A	C	150028591	3	2	236	1	0	0	0	0	1	0	0	0	15453	188	7	5	1492	5	SYNPO	5	150028591	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	513205	150028591	30886669	321	119498											
GRIA1	2890	broad.mit.edu	37	chr5	153078575	153078575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcagtgatggaaaatacgGagcccgagaccctgacacga	12	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:153078575G>A	uc003lva.3	+	10	1759	c.1394G>A	c.(1393-1395)GGA>GAA	p.G465E	GRIA1_uc003luy.3_Missense_Mutation_p.G465E|GRIA1_uc003luz.3_Missense_Mutation_p.G370E|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G385E|GRIA1_uc011dcx.1_Missense_Mutation_p.G396E|GRIA1_uc011dcy.1_Missense_Mutation_p.G475E|GRIA1_uc011dcz.1_Missense_Mutation_p.G475E|GRIA1_uc010jia.1_Missense_Mutation_p.G445E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	465	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	GGAAAATACGGAGCCCGAGAC	0.557													A	153078575	G	A	153078575	3	1	236	1	0	0	0	0	1	0	0	0	6767	1174	41	4	1432	4	GRIA1	5	153078575	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3049984	153078575	27836685	322	119499											
KIF4B	285643	broad.mit.edu	37	chr5	154394333	154394333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattctctaggaggtaacaGccacactcttatgatagcct	8	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:154394333G>A	uc010jih.1	+	1	1074	c.914G>A	c.(913-915)AGC>AAC	p.S305N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	305	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAGGTAACAGCCACACTCTT	0.438													A	154394333	G	A	154394333	3	1	236	1	0	0	0	0	1	0	0	0	8304	971	34	2	916	2	KIF4B	5	154394333	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1315758	154394333	26520927	323	119500											
ADRA1B	147	broad.mit.edu	37	chr5	159344355	159344355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcgctacatcggggtgcGctactctctgcagtatccca	10	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:159344355G>A	uc003lxt.1	+	1	616	c.443G>A	c.(442-444)CGC>CAC	p.R148H		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	148	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	ATCGGGGTGCGCTACTCTCTG	0.607													A	159344355	G	A	159344355	3	1	236	1	0	0	0	0	1	0	0	0	335	1087	38	1	445	1	ADRA1B	5	159344355	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4950022	159344355	21570905	324	119501											
C1QTNF2	114898	broad.mit.edu	37	chr5	159781820	159781820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcgtgtccatcttggcCgtctttgccaggaaagccca	11	14	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:159781820C>T	uc003lyd.2	-	2	338	c.334G>A	c.(334-336)GGC>AGC	p.G112S		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	67	Collagen-like.					collagen				skin(1)	1	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)			CCATCTTGGCCGTCTTTGCCA	0.662													T	159781820	C	T	159781820	3	4	236	1	0	0	0	0	1	0	0	0	1963	652	23	1	666	1	C1QTNF2	5	159781820	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	437465	159781820	21133440	325	119502											
NKX2-5	1482	broad.mit.edu	37	chr5	172660142	172660142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcttcctccgccgtcgCgcccggggccgctccgcgtt	14	20	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:172660142C>T	uc003mcm.1	-	2	581	c.405G>A	c.(403-405)GCG>GCA	p.A135A	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	135			A -> T (in ASD-AVCD; somatic mutation).		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			central_nervous_system(1)	1	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)			TCCGCCGTCGCGCCCGGGGCC	0.697													T	172660142	C	T	172660142	2	4	236	1	0	0	0	0	0	0	0	1	10453	755	27	1		1	NKX2-5	5	172660142	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	12878322	172660142	8255118	326	119503											
TBC1D9B	23061	broad.mit.edu	37	chr5	179291087	179291087	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctccatggggtcttcactGaacatgttgtaaagcgtctt	10	9	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:179291087G>A	uc003mlh.2	-	22	3151	c.3114C>T	c.(3112-3114)TTC>TTT	p.F1038F	TBC1D9B_uc003mli.2_Silent_p.F1021F|TBC1D9B_uc003mlj.2_Silent_p.F1020F|TBC1D9B_uc003mlf.2_Silent_p.F112F|TBC1D9B_uc003mlg.2_Silent_p.F197F|TBC1D9B_uc011dgv.1_Silent_p.F197F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1038						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)			GGTCTTCACTGAACATGTTGT	0.552													A	179291087	G	A	179291087	2	1	236	1	0	0	0	0	0	0	0	1	15625	1281	45	4		4	TBC1D9B	5	179291087	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6630945	179291087	1624173	327	119504											
IRF4	3662	broad.mit.edu	37	chr6	401689	401689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcaggatctactgggaCgggcccctggcgctgtgcaa	15	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:401689C>T	uc003msz.3	+	7	1124	c.1011C>T	c.(1009-1011)GAC>GAT	p.D337D	IRF4_uc010jne.1_Silent_p.D337D|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.D336D|IRF4_uc003mtc.1_Silent_p.D167D	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	337					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			ovary(1)	1		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)		TCTACTGGGACGGGCCCCTGG	0.602			T	IGH@	MM 								T	401689	C	T	401689	2	4	236	1	0	0	0	0	0	0	0	1	7832	535	19	1		1	IRF4	6	401689	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08		401689	170713378	328	119505											
HUS1B	135458	broad.mit.edu	37	chr6	656756	656756	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttccatgcgaaactgctgGaaggccccctgccgcacctc	9	18	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:656756G>A	uc003mtg.2	-	1	209	c.189C>T	c.(187-189)TTC>TTT	p.F63F	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	63											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GAAACTGCTGGAAGGCCCCCT	0.706													A	656756	G	A	656756	2	1	236	1	0	0	0	0	0	0	0	1	7460	1165	41	4		4	HUS1B	6	656756	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	255067	656756	170458311	329	119506											
JARID2	3720	broad.mit.edu	37	chr6	15452325	15452325	+	Frame_Shift_Del	DEL	C	C	-													agatagtggagccattgctaCcccctccagctactcagata							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:15452324_15452324AC>A	uc003nbj.3	+	3	655	c.411_411AC>A	c.(409-411)ctafs	p.L137fs	JARID2_uc011diu.1_Intron|JARID2_uc011div.2_5'UTR|JARID2_uc011diw.1_Frame_Shift_Del_p.L99fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	137					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)				AGCCATTGCTACCCCCTCCAG	0.473													-	15452325	C	-	15452325	7	5	236	1	0	1	0	1	0	0	0	0	7945	507	18	0	426	0	JARID2	6	15452325	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	14795569	15452325	155662742	330	119507											
TDP2	51567	broad.mit.edu	37	chr6	24667067	24667067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgccgcctccctcccgccCtccaggcaactccccaactc	5	25	0	0	rs140404711	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:24667067C>A	uc003nej.2	-	1	49	c.24G>T	c.(22-24)GAG>GAT	p.E8D	TDP2_uc003nei.2_5'Flank|TDP2_uc010jpu.1_Missense_Mutation_p.E8D|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	8					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						CCCTCCCGCCCTCCAGGCAAC	0.657								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	24667067	C	A	24667067	3	1	236	1	0	0	0	0	1	0	0	0	15726	680	24	5	1092	5	TDP2	6	24667067	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	9214742	24667067	146448000	331	119508											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225781	26225781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccgccgcattcgtggGgagagggcgtgaattgtttt	15	9	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:26225781G>A	uc003nhb.2	+	2	759	c.399G>A	c.(397-399)GGG>GGA	p.G133G	HIST1H3E_uc003nhc.3_Silent_p.G133G	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	133					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCATTCGTGGGGAGAGGGCGT	0.512											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	26225781	G	A	26225781	2	1	236	1	0	0	0	0	0	0	0	1	7159	1219	43	4		4	HIST1H3E	6	26225781	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1558714	26225781	144889286	332	119509											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835086	27835086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttattcttctccacgtcGtagccaccggccgctaaggc	9	15	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:27835086G>A	uc003njx.2	-	1	274	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	74	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTCCACGTCGTAGCCACCGG	0.582													A	27835086	G	A	27835086	2	1	236	1	0	0	0	0	0	0	0	1	7123	1140	40	1		1	HIST1H1B	6	27835086	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1609305	27835086	143279981	333	119510											
TRIM27	5987	broad.mit.edu	37	chr6	28872041	28872043	+	In_Frame_Del	DEL	AGA	AGA	-													acacctctctgtcacgttgtAgaaggagacctcaccagcat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:28872041_28872043delAGA	uc003nlr.2	-	8	1705_1707	c.1346_1348delTCT	c.(1345-1350)TTCTAC>TAC	p.F449del	TRIM27_uc003nls.2_In_Frame_Del_p.S356del|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	449	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			ovary(1)	1						GTCACGTTGTAGAAGGAGACCTC	0.547			T	RET	papillary thyroid								-	28872043	AGA	-	28872041	7	5	236	1	0	1	0	1	0	0	0	0	16498	420	15	0	197	0	TRIM27	6	28872041	In_Frame_Del	DEL	AGA	TCGA-F1-6874-01A-11D-1882-08	1036955	28872041	142243026	334	119511											
GABBR1	2550	broad.mit.edu	37	chr6	29581117	29581117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggcgcacaccagaaCggccgcctcctccagatgtc	9	19	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:29581117C>T	uc003nmt.3	-	12	1805	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H	GABBR1_uc003nmp.3_Missense_Mutation_p.R373H|GABBR1_uc003nms.3_Missense_Mutation_p.R373H|GABBR1_uc003nmu.3_Missense_Mutation_p.R428H|GABBR1_uc011dlr.1_Missense_Mutation_p.R313H|GABBR1_uc011dls.1_Missense_Mutation_p.R490H	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	490	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CACACCAGAACGGCCGCCTCC	0.577													T	29581117	C	T	29581117	3	4	236	1	0	0	0	0	1	0	0	0	6155	536	19	1	1464	1	GABBR1	6	29581117	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	709076	29581117	141533950	335	119512											
ZFP57	346171	broad.mit.edu	37	chr6	29641302	29641302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcttgggattgtgaaCaaactggtggctatagaggt	14	5	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:29641302C>A	uc011dlw.1	-	4	737	c.586G>T	c.(586-588)GTT>TTT	p.V196F	ZFP57_uc003nnl.3_Missense_Mutation_p.V176F	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	112	C2H2-type 1.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						GGATTGTGAACAAACTGGTGG	0.542													A	29641302	C	A	29641302	3	1	236	1	0	0	0	0	1	0	0	0	17648	478	17	5	1028	5	ZFP57	6	29641302	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	60185	29641302	141473765	336	119513											
HLA-A	3105	broad.mit.edu	37	chr6	29911091	29911092	+	Frame_Shift_Ins	INS	-	-	G													gctgcgacgtggggtcggacINSgggcgcttcctccgcgggta					rs1136702		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:29911091_29911092insG	uc003nol.2	+	3	390_391	c.390_391insG	c.(388-393)GACGGGfs	p.D130fs	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc003nok.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc003non.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc003noo.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc010jrr.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc003nom.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc010klp.2_Frame_Shift_Ins_p.D102fs|HLA-A_uc011dmc.1_Frame_Shift_Ins_p.D9fs|HLA-A_uc011dmd.1_Frame_Shift_Ins_p.D9fs	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	130_131	Extracellular (Potential).|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			upper_aerodigestive_tract(1)|ovary(1)	2						TGGGGTCGGACGGGCGCTTCCT	0.698									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			G	29911092	-	G	29911091	7	5	236	1	0	1	1	0	0	0	0	0	7195	535	19	0	400	0	HLA-A	6	29911091	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	269789	29911091	141203976	337	119514											
MDC1	9656	broad.mit.edu	37	chr6	30675439	30675439	+	Frame_Shift_Del	DEL	C	C	-													aggtcccggaaggtcccccgCccccaccccaggctctggtg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:30675439delC	uc003nrg.3	-	8	3357	c.2917delG	c.(2917-2919)GCGfs	p.A973fs	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	973				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)|ovary(1)|kidney(1)	4						AGGTCCCCCGCCCCCACCCCA	0.642								Other_conserved_DNA_damage_response_genes					-	30675439	C	-	30675439	7	5	236	1	0	1	0	1	0	0	0	0	9403	739	26	0	3384	0	MDC1	6	30675439	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	764348	30675439	140439628	338	119515											
HLA-B	3106	broad.mit.edu	37	chr6	31322883	31322883	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccctcaccccttccctaCctgaactcttcctcctacac	1	23	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:31322883C>T	uc003nth.2	-	5	1066	c.1012_splice	c.e5+1	p.G338_splice	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Splice_Site|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.G217_splice|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B						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				0						CCCTTCCCTACCTGAACTCTT	0.577									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	31322883	C	T	31322883	5	4	236	1	0	0	0	0	0	0	1	0	7196	521	18	4	87	4	HLA-B	6	31322883	Splice_Site	SNP	C	TCGA-F1-6874-01A-11D-1882-08	647444	31322883	139792184	339	119516											
TAP1	6890	broad.mit.edu	37	chr6	32815289	32815289	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatgagtggagagagtaCctgtgtcatagccctgaggg	16	6	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:32815289C>T	uc003ocg.2	-	9	2238	c.2083_splice	c.e9+1	p.E695_splice	PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Splice_Site_p.E434_splice	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family						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			skin(1)	1						GGAGAGAGTACCTGTGTCATA	0.507													T	32815289	C	T	32815289	5	4	236	1	0	0	0	0	0	0	1	0	15547	521	18	4	354	4	TAP1	6	32815289	Splice_Site	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1492406	32815289	138299778	340	119517											
TAPBP	6892	broad.mit.edu	37	chr6	33272171	33272171	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccccatgctgctcagtggtGactgggggcggctgcaagtg	17	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:33272171G>C	uc003odx.1	-	5	1284	c.1113C>G	c.(1111-1113)GTC>GTG	p.V371V	TAPBP_uc010jus.1_Silent_p.V389V|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Silent_p.V371V|TAPBP_uc010jut.1_Silent_p.V284V|TAPBP_uc011drc.1_Silent_p.V371V	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	371	Ig-like C1-type.|Lumenal (Potential).				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			ovary(1)	1						GCTCAGTGGTGACTGGGGGCG	0.667													C	33272171	G	C	33272171	2	2	236	1	0	0	0	0	0	0	0	1	15549	1277	45	5		5	TAPBP	6	33272171	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	456882	33272171	137842896	341	119518											
ITPR3	3710	broad.mit.edu	37	chr6	33636318	33636318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactacctctctgacctgtGtgtgtccaaccacatcgcca	8	15	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:33636318G>A	uc011drk.1	+	17	2132	c.1913G>A	c.(1912-1914)TGT>TAT	p.C638Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	638	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TCTGACCTGTGTGTGTCCAAC	0.597													A	33636318	G	A	33636318	3	1	236	1	0	0	0	0	1	0	0	0	7922	1377	48	4	1979	4	ITPR3	6	33636318	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	364147	33636318	137478749	342	119519											
ETV7	51513	broad.mit.edu	37	chr6	36336716	36336717	+	Frame_Shift_Ins	INS	-	-	C													gaggctcaccttgtgatttcINScccagagtctggcgagccca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:36336715_36336716T>TC	uc003omb.3	-	5	1056_1057	c.797_798A>GA	c.(796-798)ggafs	p.G266fs	ETV7_uc003olz.2_Frame_Shift_Ins_p.G266fs|ETV7_uc003oma.2_Frame_Shift_Ins_p.G211fs|ETV7_uc003omc.3_Frame_Shift_Ins_p.G211fs|ETV7_uc010jwj.3_Frame_Shift_Ins_p.G207fs|ETV7_uc010jwi.3_Frame_Shift_Ins_p.G189fs|ETV7_uc010jwh.3_Frame_Shift_Ins_p.G185fs|ETV7_uc011dtl.2_Frame_Shift_Ins_p.G115fs	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	266					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						CCTTGTGATTTCCCCAGAGTCT	0.54													C	36336717	-	C	36336716	7	5	236	1	0	1	1	0	0	0	0	0	5284	855	30	0	240	0	ETV7	6	36336716	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	2700398	36336716	134778351	343	119520											
TREML2	79865	broad.mit.edu	37	chr6	41168714	41168715	+	In_Frame_Ins	INS	-	-	CAG													agacgcaaccctgtggccacINSagcagcagcagcagcaggaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:41168713_41168714A>ACAG	uc010jxm.1	-	0	212_213	c.33_34T>CTGT	c.(31-36)ctgtgg>ctCTGTgg	p.W12C		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	12					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTGTGGCCACAGCAGCAGCA	0.624													CAG	41168715	-	CAG	41168714	7	5	236	1	0	1	1	0	0	0	0	0	16470	465	17	0	952	0	TREML2	6	41168714	In_Frame_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	4831998	41168714	129946353	344	119521											
PEX6	5190	broad.mit.edu	37	chr6	42936167	42936167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccggcaacggcgggcccGggagaagatggcctgcagtt	18	11	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:42936167G>A	uc003otf.2	-	7	1642	c.1549C>T	c.(1549-1551)CGG>TGG	p.R517W	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	517					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			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)			CGGCGGGCCCGGGAGAAGATG	0.642													A	42936167	G	A	42936167	3	1	236	1	0	0	0	0	1	0	0	0	11750	1115	39	1	1437	1	PEX6	6	42936167	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1767453	42936167	128178900	345	119522											
CUL9	23113	broad.mit.edu	37	chr6	43188260	43188260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttgaattgcacctgcCccattgccgactgccccgcc	8	16	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:43188260C>T	uc003ouk.2	+	32	6421	c.6346C>T	c.(6346-6348)CCC>TCC	p.P2116S	CUL9_uc003oul.2_Missense_Mutation_p.P2088S|CUL9_uc010jyk.2_Missense_Mutation_p.P1268S|CUL9_uc003oun.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2116	RING-type 1.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TTGCACCTGCCCCATTGCCGA	0.577													T	43188260	C	T	43188260	3	4	236	1	0	0	0	0	1	0	0	0	4061	623	22	4	6468	4	CUL9	6	43188260	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	252093	43188260	127926807	346	119523											
POLR1C	9533	broad.mit.edu	37	chr6	43488475	43488475	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggagttgagcaggtgCttctcacctggtgttattga	14	7	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:43488475C>A	uc003ovn.2	+	7	825	c.768C>A	c.(766-768)TGC>TGA	p.C256*	POLR1C_uc003ovo.1_Nonsense_Mutation_p.C256*	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	256					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				0	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)			TGAGCAGGTGCTTCTCACCTG	0.498													A	43488475	C	A	43488475	4	1	236	1	0	0	0	0	0	1	0	0	12211	805	28	5	794	5	POLR1C	6	43488475	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	300215	43488475	127626592	347	119524											
SLC25A27	9481	broad.mit.edu	37	chr6	46620981	46620981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgctgacccagagatggCcccgagcgagcaaattccta	11	14	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:46620981C>T	uc003oyh.2	+	1	303	c.52C>T	c.(52-54)CCC>TCC	p.P18S	CYP39A1_uc003oyf.1_5'Flank|CYP39A1_uc011dwa.1_5'Flank|CYP39A1_uc010jzd.1_5'Flank|SLC25A27_uc011dwb.1_Missense_Mutation_p.P18S|SLC25A27_uc003oyg.2_Missense_Mutation_p.P18S|SLC25A27_uc011dwc.1_5'UTR	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	18					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)			CCAGAGATGGCCCCGAGCGAG	0.677													T	46620981	C	T	46620981	3	4	236	1	0	0	0	0	1	0	0	0	14490	739	26	2	54	2	SLC25A27	6	46620981	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3132506	46620981	124494086	348	119525											
TINAG	27283	broad.mit.edu	37	chr6	54254616	54254617	+	Frame_Shift_Ins	INS	-	-	G													caattcctggggaaagtcatINSggggagagaatggctatttc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:54254616_54254617insG	uc003pcj.2	+	11	1470_1471	c.1324_1325insG	c.(1324-1326)TGGfs	p.W442fs	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	442					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGGAAAGTCATGGGGAGAGAAT	0.396													G	54254617	-	G	54254616	7	5	236	1	0	1	1	0	0	0	0	0	15918	1464	51	0	1366	0	TINAG	6	54254616	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	7633635	54254616	116860451	349	119526	610	2									
TINAG	27283	broad.mit.edu	37	chr6	54254617	54254618	+	Frame_Shift_Ins	INS	-	-	G													aattcctggggaaagtcatgINSgggagagaatggctatttca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:54254616_54254617T>TG	uc003pcj.2	+	10	1470_1471	c.1324_1325T>TG	c.(1324-1326)tggfs	p.W442fs	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	442					Malpighian tubule morphogenesis|cell adhesion|immune response|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)			GGGAAAGTCATGGGGAGAGAAT	0.396													G	54254618	-	G	54254617	7	5	236	1	0	1	1	0	0	0	0	0	15918	1357	47	0	1367	0	TINAG	6	54254617	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	54254617	116860450	350	119527	610	2									
DST	667	broad.mit.edu	37	chr6	56376133	56376133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggctcaattccagtaaCtgtggcccagttttgttcat	9	11	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:56376133C>A	uc003pdf.2	-	67	12313	c.12285G>T	c.(12283-12285)CAG>CAT	p.Q4095H	DST_uc003pcz.3_Missense_Mutation_p.Q3917H|DST_uc011dxj.1_Missense_Mutation_p.Q3946H|DST_uc011dxk.1_Missense_Mutation_p.Q3957H|DST_uc003pcy.3_Missense_Mutation_p.Q3591H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6003	Spectrin 11.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTCCAGTAACTGTGGCCCAG	0.428													A	56376133	C	A	56376133	3	1	236	1	0	0	0	0	1	0	0	0	4783	564	20	5	4866	5	DST	6	56376133	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2121516	56376133	114738934	351	119528											
OGFRL1	79627	broad.mit.edu	37	chr6	72006266	72006266	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactacatatgaaattgaggTaatgcaagctcatttcattt	6	6	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:72006266T>C	uc003pfx.1	+	5	709	c.546_splice	c.e5+2	p.E182_splice		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1							membrane	receptor activity				0						GAAATTGAGGTAATGCAAGCT	0.313													C	72006266	T	C	72006266	5	2	236	1	0	0	0	0	0	0	1	0	10844	1652	57	3	566	3	OGFRL1	6	72006266	Splice_Site	SNP	T	TCGA-F1-6874-01A-11D-1882-08	15630133	72006266	99108801	352	119529											
COL12A1	1303	broad.mit.edu	37	chr6	75847173	75847173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtttgctcattgccttcccCtgtggaaggctgataagtga	11	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:75847173C>A	uc003phs.2	-	31	5540	c.5374G>T	c.(5374-5376)GGG>TGG	p.G1792W	COL12A1_uc003pht.2_Missense_Mutation_p.G628W	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1792	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTGCCTTCCCCTGTGGAAGGC	0.393													A	75847173	C	A	75847173	3	1	236	1	0	0	0	0	1	0	0	0	3669	681	24	5	3961	5	COL12A1	6	75847173	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3840907	75847173	95267894	353	119530											
PHIP	55023	broad.mit.edu	37	chr6	79707231	79707231	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtgcgttgctgtgcaTttgccgtacaccttcaattt	9	10	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:79707231T>A	uc003pir.2	-	19	2327	c.2101A>T	c.(2101-2103)ATG>TTG	p.M701L	PHIP_uc011dyp.1_Missense_Mutation_p.M701L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	701					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			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		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)		TTGCTGTGCATTTGCCGTACA	0.488													A	79707231	T	A	79707231	3	1	236	1	0	0	0	0	1	0	0	0	11842	1493	52	5	3452	5	PHIP	6	79707231	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	3860058	79707231	91407836	354	119531											
TTK	7272	broad.mit.edu	37	chr6	80750419	80750422	+	Splice_Site	DEL	AAGT	AAGT	-													ctccattttgaaagctgctaAagtaagtatgtctattcttt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:80750418_80750421AAAGT>A	uc003pjc.3	+	21	2601	c.2490_splice	c.e21+1	p.K830_splice	TTK_uc003pjb.4_Splice_Site_p.K829_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	830					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)		GAAAGCTGCTAAAGTAAGTATGTC	0.348													-	80750422	AAGT	-	80750419	8	5	236	1	0	1	0	1	0	0	1	0	16717	28	1	0	2567	0	TTK	6	80750419	Splice_Site	DEL	AAGT	TCGA-F1-6874-01A-11D-1882-08	1043188	80750419	90364648	355	119532											
DOPEY1	23033	broad.mit.edu	37	chr6	83829481	83829481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggaggttttgataacaacGgtgctatcataggacccaga	11	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:83829481G>T	uc003pjs.1	+	9	1155	c.895G>T	c.(895-897)GGT>TGT	p.G299C	DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	299					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		TGATAACAACGGTGCTATCAT	0.343													T	83829481	G	T	83829481	3	4	236	1	0	0	0	0	1	0	0	0	4707	1116	39	5	921	5	DOPEY1	6	83829481	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3079062	83829481	87285586	356	119533											
NT5E	4907	broad.mit.edu	37	chr6	86200308	86200310	+	In_Frame_Del	DEL	GAA	GAA	-													cagttaaaaggttccaccctGaagaaggcctttgagcatag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:86200307_86200309TGAA>T	uc003pko.4	+	6	1848_1850	c.1292_1294TGAA>T	c.(1291-1296)ctgaag>cTag	p.K433del	NT5E_uc010kbr.3_Intron	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	433					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)	GGTTCCACCCTGAAGAAGGCCTT	0.557													-	86200310	GAA	-	86200308	7	5	236	1	0	1	0	1	0	0	0	0	10693	1277	45	0	1319	0	NT5E	6	86200308	In_Frame_Del	DEL	GAA	TCGA-F1-6874-01A-11D-1882-08	2370827	86200308	84914759	357	119534											
RARS2	57038	broad.mit.edu	37	chr6	88228428	88228428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgatcccagctgaacttGtagtcagataagagtaaacc	8	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:88228428G>A	uc003pme.2	-	16	1395	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	RARS2_uc003pmb.2_Silent_p.Y270Y|RARS2_uc003pmc.2_Silent_p.Y270Y|RARS2_uc003pmd.2_Silent_p.Y82Y|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	445					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		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)		AGCTGAACTTGTAGTCAGATA	0.507													A	88228428	G	A	88228428	2	1	236	1	0	0	0	0	0	0	0	1	13059	1372	48	4		4	RARS2	6	88228428	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2028120	88228428	82886639	358	119535											
BACH2	60468	broad.mit.edu	37	chr6	90661567	90661568	+	Frame_Shift_Ins	INS	-	-	C													actgtaacagcggcccaaagINScccctggctgtgacctgcaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:90661567_90661568insC	uc011eab.1	-	7	1066_1067	c.257_258insG	c.(256-258)GGCfs	p.G86fs	BACH2_uc003pnw.2_Frame_Shift_Ins_p.G86fs|BACH2_uc010kch.2_Frame_Shift_Ins_p.G86fs	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	86	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		GCGGCCCAAAGCCCCTGGCTGT	0.52													C	90661568	-	C	90661567	7	5	236	1	0	1	1	0	0	0	0	0	1284	958	34	0	2279	0	BACH2	6	90661567	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	2433139	90661567	80453500	359	119536	611	2									
BACH2	60468	broad.mit.edu	37	chr6	90661568	90661569	+	Frame_Shift_Ins	INS	-	-	C													ctgtaacagcggcccaaagcINSccctggctgtgacctgcaaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:90661567_90661568G>GC	uc011eab.2	-	6	1131_1132	c.257_258C>GC	c.(256-258)ggcfs	p.G86fs	BACH2_uc003pnw.3_Frame_Shift_Ins_p.G86fs|BACH2_uc010kch.3_Frame_Shift_Ins_p.G86fs	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	86	BTB.					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)		GCGGCCCAAAGCCCCTGGCTGT	0.52													C	90661569	-	C	90661568	7	5	236	1	0	1	1	0	0	0	0	0	1284	739	26	0	2280	0	BACH2	6	90661568	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	90661568	80453499	360	119537	611	2									
SLC22A16	85413	broad.mit.edu	37	chr6	110763701	110763701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttccacttggccatgAtgtcaactattttttgtgct	7	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:110763701A>G	uc003puf.2	-	4	996	c.929T>C	c.(928-930)ATC>ACC	p.I310T	SLC22A16_uc003pue.2_Missense_Mutation_p.I291T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	310					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		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)		CTTGGCCATGATGTCAACTAT	0.468													G	110763701	A	G	110763701	3	3	236	1	0	0	0	0	1	0	0	0	14447	333	12	3	824	3	SLC22A16	6	110763701	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	20102133	110763701	60351366	361	119538											
RFPL4B	442247	broad.mit.edu	37	chr6	112670995	112670995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctctcttgtacacacGtgttctgctttgattgcatc	6	11	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:112670995G>A	uc003pvx.1	+	3	397	c.85G>A	c.(85-87)GTG>ATG	p.V29M		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	29	RING-type.						zinc ion binding				0		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)		TTGTACACACGTGTTCTGCTT	0.463													A	112670995	G	A	112670995	3	1	236	1	0	0	0	0	1	0	0	0	13256	1145	40	1	87	1	RFPL4B	6	112670995	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1907294	112670995	58444072	362	119539											
HS3ST5	222537	broad.mit.edu	37	chr6	114378682	114378682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttctggcagaggttcCgtgatgaggcgatctccatc	13	9	2	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:114378682C>T	uc003pwg.3	-	2	812	c.780G>A	c.(778-780)ACG>ACA	p.T260T	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.T260T	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	260	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2		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)		GCAGAGGTTCCGTGATGAGGC	0.428													T	114378682	C	T	114378682	2	4	236	1	0	0	0	0	0	0	0	1	7368	639	23	1		1	HS3ST5	6	114378682	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1707687	114378682	56736385	363	119540											
HEY2	23493	broad.mit.edu	37	chr6	126080811	126080813	+	In_Frame_Del	DEL	GCA	GCA	-													tccccatgcttcccccaaacGcagcagcagcagtggccgcg					rs146693390		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:126080810_126080812CGCA>C	uc003qad.3	+	4	1067_1069	c.876_878CGCA>C	c.(874-879)aacgca>aaCa	p.A296del	HEY2_uc011ebr.2_In_Frame_Del_p.A250del	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	296	Ala-rich.				Notch signaling pathway|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|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase 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)		TTCCCCCAAACGCAGCAGCAGCA	0.645													-	126080813	GCA	-	126080811	7	5	236	1	0	1	0	1	0	0	0	0	7079	1087	38	0	895	0	HEY2	6	126080811	In_Frame_Del	DEL	GCA	TCGA-F1-6874-01A-11D-1882-08	11702129	126080811	45034256	364	119541											
C6orf174	387104	broad.mit.edu	37	chr6	127796510	127796510	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctcgaggcggtcgatgaaGgtctgcagctccttgcggaa	14	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:127796510G>T	uc003qbd.2	-	6	3526	c.2661C>A	c.(2659-2661)ACC>ACA	p.T887T	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	887						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GGTCGATGAAGGTCTGCAGCT	0.637													T	127796510	G	T	127796510	2	4	236	1	0	0	0	0	0	0	0	1	2345	987	35	5		5	C6orf174	6	127796510	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1715699	127796510	43318557	365	119542											
PTPRK	5796	broad.mit.edu	37	chr6	128294219	128294219	+	Frame_Shift_Del	DEL	A	A	-													tcagtgtctttactgcatggAaaacatcgacaacattttgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:128294218_128294218GA>G	uc003qbk.3	-	28	4582	c.4215_4215TC>C	c.(4213-4215)ttcfs	p.F1405fs	PTPRK_uc010kfc.3_Frame_Shift_Del_p.F1412fs|PTPRK_uc003qbj.3_Frame_Shift_Del_p.F1406fs|PTPRK_uc011ebu.2_Frame_Shift_Del_p.F1428fs	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1405	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|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	p.V1405L(1)	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)		TTACTGCATGGAAAACATCGA	0.448													-	128294219	A	-	128294219	7	5	236	1	0	1	0	1	0	0	0	0	12805	246	9	0	113	0	PTPRK	6	128294219	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	497709	128294219	42820848	366	119543											
PTPRK	5796	broad.mit.edu	37	chr6	128298173	128298173	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagagggtattgtgtgacGatgaaagcagctggttgcct	16	6	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:128298173G>A	uc003qbk.2	-	26	4102	c.3735C>T	c.(3733-3735)ATC>ATT	p.I1245I	PTPRK_uc003qbj.2_Silent_p.I1246I|PTPRK_uc010kfc.2_Silent_p.I1252I|PTPRK_uc011ebu.1_Silent_p.I1268I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1245	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTGTGTGACGATGAAAGCAG	0.383													A	128298173	G	A	128298173	2	1	236	1	0	0	0	0	0	0	0	1	12805	1048	37	1		1	PTPRK	6	128298173	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3954	128298173	42816894	367	119544											
SAMD3	154075	broad.mit.edu	37	chr6	130535624	130535624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttaccagttgctgaaCcatccgatcattaagtgcaa	6	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:130535624C>T	uc003qbv.2	-	5	453	c.127G>A	c.(127-129)GTT>ATT	p.V43I	SAMD3_uc003qbx.2_Missense_Mutation_p.V43I|SAMD3_uc003qbw.2_Missense_Mutation_p.V43I|SAMD3_uc010kfg.1_Missense_Mutation_p.V43I|SAMD3_uc003qby.2_Missense_Mutation_p.V43I|SAMD3_uc003qbz.1_Missense_Mutation_p.V2I	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	43	SAM.									ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AGTTGCTGAACCATCCGATCA	0.418													T	130535624	C	T	130535624	3	4	236	1	0	0	0	0	1	0	0	0	13820	507	18	4	1487	4	SAMD3	6	130535624	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2237451	130535624	40579443	368	119545											
MED23	9439	broad.mit.edu	37	chr6	131943072	131943072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagagctcactgtattaggAattgtcaaaatcttctccaa	7	9	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:131943072A>C	uc003qcs.1	-	6	618	c.444T>G	c.(442-444)ATT>ATG	p.I148M	MED23_uc003qcq.2_Missense_Mutation_p.I148M|MED23_uc003qct.1_Missense_Mutation_p.I148M|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	148					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGTATTAGGAATTGTCAAAA	0.363													C	131943072	A	C	131943072	3	2	236	1	0	0	0	0	1	0	0	0	9441	242	9	5	3787	5	MED23	6	131943072	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1407448	131943072	39171995	369	119546											
EYA4	2070	broad.mit.edu	37	chr6	133802626	133802626	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgataccatgcagagtccCtccacacccatcaaagatct	5	15	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:133802626C>A	uc003qec.3	+	12	1454	c.996C>A	c.(994-996)CCC>CCA	p.P332P	EYA4_uc011ecq.1_Silent_p.P278P|EYA4_uc011ecr.1_Silent_p.P284P|EYA4_uc003qed.3_Silent_p.P332P|EYA4_uc003qee.3_Silent_p.P309P|EYA4_uc011ecs.1_Silent_p.P338P|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	332					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGCAGAGTCCCTCCACACCCA	0.423													A	133802626	C	A	133802626	2	1	236	1	0	0	0	0	0	0	0	1	5331	668	24	5		5	EYA4	6	133802626	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1859554	133802626	37312441	370	119547											
TNFAIP3	7128	broad.mit.edu	37	chr6	138196151	138196151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggaatttgttgaaacGgggctttgctatgatactcg	11	7	1	2	rs140424499	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:138196151G>A	uc003qhr.2	+	3	531	c.465G>A	c.(463-465)ACG>ACA	p.T155T	TNFAIP3_uc003qhs.2_Silent_p.T155T	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	155	TRAF-binding.|OTU.				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?(22)|p.T155T(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTGTTGAAACGGGGCTTTGCT	0.507			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								A	138196151	G	A	138196151	2	1	236	1	0	0	0	0	0	0	0	1	16271	1103	39	1		1	TNFAIP3	6	138196151	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4393525	138196151	32918916	371	119548											
STXBP5	134957	broad.mit.edu	37	chr6	147684527	147684527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcatttctggataccacaGgctgcttaataccacctgcg	9	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:147684527G>T	uc003qlz.2	+	24	2763	c.2602G>T	c.(2602-2604)GGC>TGC	p.G868C	STXBP5_uc010khz.1_Missense_Mutation_p.G832C|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G523C	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	868	WD 12.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGATACCACAGGCTGCTTAAT	0.378													T	147684527	G	T	147684527	3	4	236	1	0	0	0	0	1	0	0	0	15355	1000	35	5	2696	5	STXBP5	6	147684527	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	9488376	147684527	23430540	372	119549											
SASH1	23328	broad.mit.edu	37	chr6	148852697	148852697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgcctggctcccctccGccttcacagcccgaccccga	9	20	1	0	rs150728102		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:148852697G>A	uc003qme.1	+	13	1939	c.1464G>A	c.(1462-1464)CCG>CCA	p.P488P	SASH1_uc011eeb.1_Silent_p.P249P|SASH1_uc003qmf.1_Intron	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	488							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTCCCCTCCGCCTTCACAGC	0.537													A	148852697	G	A	148852697	2	1	236	1	0	0	0	0	0	0	0	1	13848	1074	38	1		1	SASH1	6	148852697	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1168170	148852697	22262370	373	119550											
ZBTB2	57621	broad.mit.edu	37	chr6	151686764	151686764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaatggatcgcccttcGtctagggcaaaaacatccga	11	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:151686764G>A	uc003qoh.2	-	3	1572	c.1437C>T	c.(1435-1437)GAC>GAT	p.D479D		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATCGCCCTTCGTCTAGGGCAA	0.473													A	151686764	G	A	151686764	2	1	236	1	0	0	0	0	0	0	0	1	17525	1136	40	1		1	ZBTB2	6	151686764	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2834067	151686764	19428303	374	119551											
SYNE1	23345	broad.mit.edu	37	chr6	152683404	152683404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatccatccaaccggagaaCtgtcgaacgccatcctgata	7	14	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:152683404C>T	uc010kiw.2	-	64	10802	c.10200G>A	c.(10198-10200)CAG>CAA	p.Q3400Q	SYNE1_uc003qot.3_Silent_p.Q3407Q|SYNE1_uc003qou.3_Silent_p.Q3400Q|SYNE1_uc010kja.1_Silent_p.Q105Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3400	HAT 6.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACCGGAGAACTGTCGAACGC	0.473										HNSCC(10;0.0054)			T	152683404	C	T	152683404	2	4	236	1	0	0	0	0	0	0	0	1	15442	564	20	4		4	SYNE1	6	152683404	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	996640	152683404	18431663	375	119552											
CNKSR3	154043	broad.mit.edu	37	chr6	154481013	154481013	+	Frame_Shift_Del	DEL	G	G	-													aggtgatttcttgagttcctGgggggtgtcatcagtgtcat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:154481012_154481012TG>T	uc021zhc.1	-	21	3156	c.2651_2651CA>A	c.(2650-2652)cagfs	p.Q884fs	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Frame_Shift_Del_p.Q293fs|CNKSR3_uc003qpw.3_Frame_Shift_Del_p.Q423fs|CNKSR3_uc003qpx.3_Frame_Shift_Del_p.Q422fs|CNKSR3_uc010kjh.3_Frame_Shift_Del_p.Q423fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					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)		CTTGAGTTCCTGGGGGGTGTC	0.458													-	154481013	G	-	154481013	7	5	236	1	0	1	0	1	0	0	0	0	3608	1357	47	0		0	CNKSR3	6	154481013	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1797609	154481013	16634054	376	119553											
TULP4	56995	broad.mit.edu	37	chr6	158914604	158914604	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggccttgcctccccaGgatcagcattgaggcccgca	10	17	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:158914604G>T	uc003qrf.2	+	10	2989	c.1632_splice	c.e10-1	p.R544_splice	TULP4_uc003qrg.2_Splice_Site_p.R544_splice	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1						intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		TGCCTCCCCAGGATCAGCATT	0.662													T	158914604	G	T	158914604	5	4	236	1	0	0	0	0	0	0	1	0	16773	1014	35	5	1669	5	TULP4	6	158914604	Splice_Site	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4433591	158914604	12200463	377	119554											
TULP4	56995	broad.mit.edu	37	chr6	158923693	158923693	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctacgctcaagatggccCagctggccgacagcccgcgg	14	15	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:158923693C>T	uc003qrf.2	+	13	4355	c.2998C>T	c.(2998-3000)CAG>TAG	p.Q1000*	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1000					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		CAAGATGGCCCAGCTGGCCGA	0.731													T	158923693	C	T	158923693	4	4	236	1	0	0	0	0	0	1	0	0	16773	595	21	4	3048	4	TULP4	6	158923693	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	9089	158923693	12191374	378	119555											
IGF2R	3482	broad.mit.edu	37	chr6	160485488	160485489	+	Frame_Shift_Ins	INS	-	-	G													tgttaaaaatgaacttcacgINSgggggggacacttgccataa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:160485487_160485488C>CG	uc003qta.3	+	27	4089_4090	c.3941_3942C>CG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					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)		ATGAACTTCACGGGGGGGGACA	0.505													G	160485489	-	G	160485488	7	5	236	1	0	1	1	0	0	0	0	0	7576	1103	39	0	4052	0	IGF2R	6	160485488	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1561795	160485488	10629579	379	119556											
SLC22A1	6580	broad.mit.edu	37	chr6	160557266	160557267	+	Frame_Shift_Ins	INS	-	-	C													cgcaggtgtgtgccggagtcINSccctcggtggctgttatcac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:160557265_160557266T>TC	uc003qtc.3	+	4	958_959	c.853_854T>TC	c.(853-855)tccfs	p.S285fs	SLC22A1_uc003qtd.3_Frame_Shift_Ins_p.S285fs	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	285						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)		TGTGCCGGAGTCCCCTCGGTGG	0.5													C	160557267	-	C	160557266	7	5	236	1	0	1	1	0	0	0	0	0	14440	855	30	0	872	0	SLC22A1	6	160557266	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	71778	160557266	10557801	380	119557											
SLC22A2	6582	broad.mit.edu	37	chr6	160679619	160679619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcgcagactcagctcGgccactccggggctccggca	13	18	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:160679619G>A	uc003qtf.2	-	1	341	c.171C>T	c.(169-171)GCC>GCT	p.A57A	SLC22A2_uc003qte.1_Silent_p.A57A|SLC22A2_uc003qth.1_Silent_p.A57A	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	57	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GACTCAGCTCGGCCACTCCGG	0.667													A	160679619	G	A	160679619	2	1	236	1	0	0	0	0	0	0	0	1	14450	1103	39	1		1	SLC22A2	6	160679619	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	122353	160679619	10435448	381	119558											
GPR146	115330	broad.mit.edu	37	chr7	1097822	1097822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcccctggaccgggacaCgggccggctggagccctcgg	16	17	0	0	rs146511290		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:1097822C>T	uc003sjw.2	+	2	747	c.671C>T	c.(670-672)ACG>ATG	p.T224M	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.T224M|GPR146_uc003sjy.1_Missense_Mutation_p.T224M	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	224	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GACCGGGACACGGGCCGGCTG	0.682													T	1097822	C	T	1097822	3	4	236	1	0	0	0	0	1	0	0	0	6652	536	19	1	673	1	GPR146	7	1097822	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08		1097822	158040841	382	119559											
INTS1	26173	broad.mit.edu	37	chr7	1510498	1510498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttggcacaggagagcGtactcaggcaggttccggag	14	11	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:1510498G>A	uc003skn.2	-	47	6542	c.6441C>T	c.(6439-6441)TAC>TAT	p.Y2147Y	INTS1_uc003skm.1_Silent_p.Y284Y	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2147					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACAGGAGAGCGTACTCAGGCA	0.677													A	1510498	G	A	1510498	2	1	236	1	0	0	0	0	0	0	0	1	7775	1140	40	1		1	INTS1	7	1510498	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	412676	1510498	157628165	383	119560											
SDK1	221935	broad.mit.edu	37	chr7	4026921	4026921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgatggaaacagtcctAttctttattacatcgtggag	8	8	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:4026921A>G	uc003smx.2	+	14	2237	c.2098A>G	c.(2098-2100)ATT>GTT	p.I700V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	700	Fibronectin type-III 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		AAACAGTCCTATTCTTTATTA	0.468													G	4026921	A	G	4026921	3	3	236	1	0	0	0	0	1	0	0	0	13968	449	16	3	2152	3	SDK1	7	4026921	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2516423	4026921	155111742	384	119561											
GLCCI1	113263	broad.mit.edu	37	chr7	8043595	8043595	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacaataaggcgaacctcctCtttggatacaataacaggac	7	10	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:8043595C>A	uc003srk.2	+	2	1074	c.515C>A	c.(514-516)TCT>TAT	p.S172Y		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	172											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGAACCTCCTCTTTGGATACA	0.418													A	8043595	C	A	8043595	3	1	236	1	0	0	0	0	1	0	0	0	6431	913	32	5	521	5	GLCCI1	7	8043595	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4016674	8043595	151095068	385	119562											
ITGB8	3696	broad.mit.edu	37	chr7	20445782	20445782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaacaacagcattatgtcGaccaaacttcaggtaggcca	9	10	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:20445782G>A	uc003suu.2	+	12	2716	c.2011G>A	c.(2011-2013)GAC>AAC	p.D671N	ITGB8_uc011jyh.1_Missense_Mutation_p.D536N	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	671	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						GCATTATGTCGACCAAACTTC	0.423													A	20445782	G	A	20445782	3	1	236	1	0	0	0	0	1	0	0	0	7901	1058	37	1	2057	1	ITGB8	7	20445782	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	12402187	20445782	138692881	386	119563											
TRA2A	29896	broad.mit.edu	37	chr7	23556005	23556005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccagtatgtcttctccGgttagacattggagaatggc	12	9	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:23556005G>A	uc003swi.2	-	3	527	c.313C>T	c.(313-315)CGG>TGG	p.R105W	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R4W|TRA2A_uc011jzd.1_Missense_Mutation_p.R4W|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	105	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TGTCTTCTCCGGTTAGACATT	0.438													A	23556005	G	A	23556005	3	1	236	1	0	0	0	0	1	0	0	0	16430	1115	39	1	559	1	TRA2A	7	23556005	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3110223	23556005	135582658	387	119564											
HOXA1	3198	broad.mit.edu	37	chr7	27135410	27135410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaactgttggcgctgaccGcgcacgactggaaagttgta	13	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:27135410G>A	uc003sye.2	-	1	216	c.122C>T	c.(121-123)GCG>GTG	p.A41V	HOXA1_uc003syd.2_Missense_Mutation_p.A41V|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	41						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						GGCGCTGACCGCGCACGACTG	0.532											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	27135410	G	A	27135410	3	1	236	1	0	0	0	0	1	0	0	0	7288	1087	38	1	893	1	HOXA1	7	27135410	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3579405	27135410	132003253	388	119565											
CREB5	9586	broad.mit.edu	37	chr7	28858738	28858738	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttttctccctaggtccaGagagtagccctcctgctagt	8	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:28858738G>T	uc003szq.2	+	11	1759	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*	CREB5_uc003szo.2_Nonsense_Mutation_p.E424*|CREB5_uc003szr.2_Nonsense_Mutation_p.E450*|CREB5_uc003szs.2_Nonsense_Mutation_p.E318*	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	457					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			skin(2)	2						CCTAGGTCCAGAGAGTAGCCC	0.473													T	28858738	G	T	28858738	4	4	236	1	0	0	0	0	0	1	0	0	3860	943	33	5	1462	5	CREB5	7	28858738	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1723328	28858738	130279925	389	119566											
NPSR1	387129	broad.mit.edu	37	chr7	34851405	34851405	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctctacgcctctacCtacgtcctggtgtccctcag	9	16	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:34851405C>A	uc003teg.1	+	4	536	c.408C>A	c.(406-408)ACC>ACA	p.T136T	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.T136T|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.T136T|NPSR1_uc010kww.1_Silent_p.T125T|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	136	Helical; Name=3; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	ACGCCTCTACCTACGTCCTGG	0.488													A	34851405	C	A	34851405	2	1	236	1	0	0	0	0	0	0	0	1	10600	668	24	5		5	NPSR1	7	34851405	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5992667	34851405	124287258	390	119567											
AMPH	273	broad.mit.edu	37	chr7	38469442	38469442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctggatatttacctacCggctgtaccaaatcagtgct	8	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:38469442C>T	uc003tgu.2	-	14	1251	c.1182G>A	c.(1180-1182)CCG>CCA	p.P394P	AMPH_uc003tgv.2_Silent_p.P394P|AMPH_uc003tgt.2_Silent_p.P147P|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	394					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						ATTTACCTACCGGCTGTACCA	0.348													T	38469442	C	T	38469442	2	4	236	1	0	0	0	0	0	0	0	1	588	666	23	1		1	AMPH	7	38469442	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3618037	38469442	120669221	391	119568											
VPS41	27072	broad.mit.edu	37	chr7	38798010	38798010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatctttcttcaaatgatcCcgaactgcttgaactatgac	5	11	3	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:38798010C>T	uc003tgy.2	-	18	1520	c.1494G>A	c.(1492-1494)CGG>CGA	p.R498R	VPS41_uc003tgz.2_Silent_p.R473R|VPS41_uc010kxn.2_Silent_p.R409R	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	498					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						TCAAATGATCCCGAACTGCTT	0.368													T	38798010	C	T	38798010	2	4	236	1	0	0	0	0	0	0	0	1	17207	610	22	4		4	VPS41	7	38798010	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	328568	38798010	120340653	392	119569											
GLI3	2737	broad.mit.edu	37	chr7	42003945	42003945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctattgcataactgcaaGgaatttgctttcttccgcta	7	10	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:42003945G>T	uc011kbh.1	-	15	4817	c.4726C>A	c.(4726-4728)CTT>ATT	p.L1576I	GLI3_uc011kbg.1_Missense_Mutation_p.L1517I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1576					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ATAACTGCAAGGAATTTGCTT	0.453									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42003945	G	T	42003945	3	4	236	1	0	0	0	0	1	0	0	0	6439	1000	35	5	20	5	GLI3	7	42003945	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3205935	42003945	117134718	393	119570											
GLI3	2737	broad.mit.edu	37	chr7	42006185	42006185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagagaggtcgcttctgCccgggagaagcgtcatgggc	15	13	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:42006185C>T	uc011kbh.1	-	15	2577	c.2486G>A	c.(2485-2487)GGC>GAC	p.G829D	GLI3_uc011kbg.1_Missense_Mutation_p.G770D	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	829					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GTCGCTTCTGCCCGGGAGAAG	0.597									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42006185	C	T	42006185	3	4	236	1	0	0	0	0	1	0	0	0	6439	739	26	2	2260	2	GLI3	7	42006185	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2240	42006185	117132478	394	119571											
GLI3	2737	broad.mit.edu	37	chr7	42012081	42012081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggctgccggaatctctcGggggtggcggccgaggatgg	19	9	1	0	rs141220299		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:42012081G>A	uc011kbh.1	-	13	2049	c.1958C>T	c.(1957-1959)CCG>CTG	p.P653L	GLI3_uc011kbg.1_Missense_Mutation_p.P594L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	653					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGAATCTCTCGGGGGTGGCGG	0.622									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42012081	G	A	42012081	3	1	236	1	0	0	0	0	1	0	0	0	6439	1116	39	1	2796	1	GLI3	7	42012081	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5896	42012081	117126582	395	119572											
HECW1	23072	broad.mit.edu	37	chr7	43485109	43485109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcccctagcgggcacGtggaaagaagcccggaaggt	16	12	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:43485109G>A	uc003tid.1	+	11	2943	c.2338G>A	c.(2338-2340)GTG>ATG	p.V780M	HECW1_uc011kbi.1_Missense_Mutation_p.V780M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	780					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TAGCGGGCACGTGGAAAGAAG	0.622													A	43485109	G	A	43485109	3	1	236	1	0	0	0	0	1	0	0	0	7042	1145	40	1	2372	1	HECW1	7	43485109	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1473028	43485109	115653554	396	119573											
PGAM2	5224	broad.mit.edu	37	chr7	44104780	44104780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgggatgtcgaaggagcGcctccagatcttcacctgct	13	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:44104780G>A	uc003tjs.2	-	1	384	c.349C>T	c.(349-351)CGC>TGC	p.R117C		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	117					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						TCGAAGGAGCGCCTCCAGATC	0.627													A	44104780	G	A	44104780	3	1	236	1	0	0	0	0	1	0	0	0	11774	1087	38	1	424	1	PGAM2	7	44104780	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	619671	44104780	115033883	397	119574											
OGDH	4967	broad.mit.edu	37	chr7	44715660	44715660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttgtccttggtggccaAcccttcccaccttgaggccg	9	16	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:44715660A>G	uc003tln.2	+	9	1227	c.1118A>G	c.(1117-1119)AAC>AGC	p.N373S	OGDH_uc003tlm.2_Missense_Mutation_p.N373S|OGDH_uc011kbx.1_Missense_Mutation_p.N369S|OGDH_uc011kby.1_Missense_Mutation_p.N223S|OGDH_uc003tlp.2_Missense_Mutation_p.N384S|OGDH_uc011kbz.1_Missense_Mutation_p.N168S|OGDH_uc003tlo.1_Missense_Mutation_p.N206S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	373					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TTGGTGGCCAACCCTTCCCAC	0.562													G	44715660	A	G	44715660	3	3	236	1	0	0	0	0	1	0	0	0	10839	43	2	3	1243	3	OGDH	7	44715660	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	610880	44715660	114423003	398	119575											
CCM2	83605	broad.mit.edu	37	chr7	45109526	45109526	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcgatatttgatggggcCtctaccccgacccaccacct	9	15	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:45109526C>A	uc003tmo.2	+	6	857	c.711C>A	c.(709-711)GCC>GCA	p.A237A	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.A179A|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Silent_p.A200A|CCM2_uc011kcc.1_3'UTR|CCM2_uc003tms.2_Silent_p.A258A	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	237	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						TTGATGGGGCCTCTACCCCGA	0.607									Familial_Cerebral_Cavernous_Angioma				A	45109526	C	A	45109526	2	1	236	1	0	0	0	0	0	0	0	1	2908	668	24	5		5	CCM2	7	45109526	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	393866	45109526	114029137	399	119576											
CCM2	83605	broad.mit.edu	37	chr7	45115560	45115560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctctgatgaccggtcGgcaccctcagagggggatga	16	11	2	4	rs147293659		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:45115560G>A	uc003tmo.2	+	10	1385	c.1239G>A	c.(1237-1239)TCG>TCA	p.S413S	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.S355S|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.S322S|CCM2_uc003tms.2_Silent_p.S434S	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	413					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						ATGACCGGTCGGCACCCTCAG	0.622									Familial_Cerebral_Cavernous_Angioma				A	45115560	G	A	45115560	2	1	236	1	0	0	0	0	0	0	0	1	2908	1103	39	1		1	CCM2	7	45115560	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6034	45115560	114023103	400	119577											
PKD1L1	168507	broad.mit.edu	37	chr7	47851502	47851502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggggacgagactcccCgtagggaggatctccactct	14	11	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:47851502C>T	uc003tny.1	-	50	7494	c.7494G>A	c.(7492-7494)ACG>ACA	p.T2498T	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.T225T	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2498	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CGAGACTCCCCGTAGGGAGGA	0.587													T	47851502	C	T	47851502	2	4	236	1	0	0	0	0	0	0	0	1	11964	639	23	1		1	PKD1L1	7	47851502	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2735942	47851502	111287161	401	119578											
PKD1L1	168507	broad.mit.edu	37	chr7	47968829	47968829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggtggtaggcagtcacCgccattgcctcagacatgtt	11	11	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:47968829C>T	uc003tny.1	-	7	1032	c.1032G>A	c.(1030-1032)GCG>GCA	p.A344A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	344	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGGCAGTCACCGCCATTGCCT	0.527													T	47968829	C	T	47968829	2	4	236	1	0	0	0	0	0	0	0	1	11964	639	23	1		1	PKD1L1	7	47968829	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	117327	47968829	111169834	402	119579											
EGFR	1956	broad.mit.edu	37	chr7	55087030	55087030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggctgcgctctgcccGgcgagtcgggctctggagga	17	13	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:55087030G>A	uc003tqk.2	+	1	306	c.60G>A	c.(58-60)CCG>CCA	p.P20P	EGFR_uc003tqh.2_Silent_p.P20P|EGFR_uc003tqi.2_Silent_p.P20P|EGFR_uc003tqj.2_Silent_p.P20P|EGFR_uc010kzg.1_Silent_p.P20P	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	20					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			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	CGCTCTGCCCGGCGAGTCGGG	0.488		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55087030	G	A	55087030	2	1	236	1	0	0	0	0	0	0	0	1	4967	1103	39	1		1	EGFR	7	55087030	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	7118201	55087030	104051633	403	119580											
EGFR	1956	broad.mit.edu	37	chr7	55221748	55221748	+	Frame_Shift_Del	DEL	C	C	-													gccacgtgcaaggacacctgCcccccactcatgctctacaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:55221747_55221747GC>G	uc003tqk.3	+	6	1037	c.791_791GC>G	c.(790-792)tgcfs	p.C264fs	EGFR_uc003tqh.3_Frame_Shift_Del_p.C264fs|EGFR_uc003tqi.3_Frame_Shift_Del_p.C264fs|EGFR_uc003tqj.3_Frame_Shift_Del_p.C264fs|EGFR_uc022adm.1_Frame_Shift_Del_p.C264fs|EGFR_uc010kzg.2_Frame_Shift_Del_p.C219fs|EGFR_uc022adn.1_Frame_Shift_Del_p.C219fs|EGFR_uc011kco.2_Frame_Shift_Del_p.C211fs|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	264					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 MAP kinase activity|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 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 UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.T263P(4)		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)	AAGGACACCTGCCCCCCACTC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			-	55221748	C	-	55221748	7	5	236	1	0	1	0	1	0	0	0	0	4967	747	26	0	818	0	EGFR	7	55221748	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	134718	55221748	103916915	404	119581											
GBAS	2631	broad.mit.edu	37	chr7	56065092	56065092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaccagggaagacatacGgaatgcagcatggcacaaac	11	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:56065092G>A	uc003tre.1	+	9	754	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	GBAS_uc003trf.1_Missense_Mutation_p.R210Q	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	249						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAGACATACGGAATGCAGCA	0.403													A	56065092	G	A	56065092	3	1	236	1	0	0	0	0	1	0	0	0	6269	1116	39	1	780	1	GBAS	7	56065092	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	843344	56065092	103073571	405	119582											
PSPH	5723	broad.mit.edu	37	chr7	56087422	56087422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccgcccatggctcgcCgtgtcctaggagggagaccc	13	17	0	1	rs144281276	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:56087422C>A	uc003trg.2	-	4	509	c.146G>T	c.(145-147)CGG>CTG	p.R49L	PSPH_uc003trh.2_Missense_Mutation_p.R49L|PSPH_uc003tri.2_Missense_Mutation_p.R49L|PSPH_uc003trj.2_Missense_Mutation_p.R78L	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	49					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATGGCTCGCCGTGTCCTAGG	0.602													A	56087422	C	A	56087422	3	1	236	1	0	0	0	0	1	0	0	0	12717	652	23	5	547	5	PSPH	7	56087422	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	22330	56087422	103051241	406	119583											
SBDS	51119	broad.mit.edu	37	chr7	66453459	66453459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattagctcatcaatttctcGgaagcagcccgggtcaatca	8	11	5	0	rs113993998		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:66453459G>A	uc003tvm.1	-	5	836	c.652C>T	c.(652-654)CGA>TGA	p.R218*		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	218					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			ovary(1)	1						TCAATTTCTCGGAAGCAGCCC	0.383			Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				A	66453459	G	A	66453459	4	1	236	1	0	0	0	0	0	1	0	0	13857	1124	39	1	104	1	SBDS	7	66453459	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	10366037	66453459	92685204	407	119584											
WBSCR17	64409	broad.mit.edu	37	chr7	70885960	70885960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcccctccattgacaaCatcaaacaggacaactttga	4	14	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:70885960C>T	uc003tvy.2	+	5	831	c.831C>T	c.(829-831)AAC>AAT	p.N277N	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	277	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCATTGACAACATCAAACAGG	0.532													T	70885960	C	T	70885960	2	4	236	1	0	0	0	0	0	0	0	1	17261	477	17	4		4	WBSCR17	7	70885960	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4432501	70885960	88252703	408	119585											
POM121	9883	broad.mit.edu	37	chr7	72413459	72413459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcatttggggccgctgAggggcagccaccgggggccg	19	14	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:72413459A>G	uc003twk.2	+	11	2927	c.2927A>G	c.(2926-2928)GAG>GGG	p.E976G	POM121_uc003twj.2_Missense_Mutation_p.E711G|POM121_uc010lam.1_Missense_Mutation_p.E711G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	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					0		Lung NSC(55;0.163)				GGGGCCGCTGAGGGGCAGCCA	0.657													G	72413459	A	G	72413459	3	3	236	1	0	0	0	0	1	0	0	0	12239	304	11	3	2170	3	POM121	7	72413459	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1527499	72413459	86725204	409	119586											
NSUN5	55695	broad.mit.edu	37	chr7	72717909	72717909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacgtggagtagacgagCcgctgcagggaagggaaagt	18	7	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:72717909C>T	uc003txw.2	-	8	1095	c.1059G>A	c.(1057-1059)CGG>CGA	p.R353R	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.R353R|NSUN5_uc003txx.2_Silent_p.R315R|NSUN5_uc011kev.1_Silent_p.R353R	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 2	353							methyltransferase activity				0		Lung NSC(55;0.163)				AGTAGACGAGCCGCTGCAGGG	0.677													T	72717909	C	T	72717909	2	4	236	1	0	0	0	0	0	0	0	1	10681	726	26	2		2	NSUN5	7	72717909	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	304450	72717909	86420754	410	119587											
BAZ1B	9031	broad.mit.edu	37	chr7	72879862	72879863	+	Frame_Shift_Ins	INS	-	-	A													ctccttttgactatcacataINSaaaacctgtaggggcaaaag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:72879861_72879862T>TA	uc003tyc.3	-	10	3330_3331	c.2978_2979A>TA	c.(2977-2979)ttafs	p.L993fs		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	993					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|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)				GACTATCACATAAAAACCTGTA	0.391													A	72879863	-	A	72879862	7	5	236	1	0	1	1	0	0	0	0	0	1330	372	13	0	1509	0	BAZ1B	7	72879862	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	161953	72879862	86258801	411	119588											
LIMK1	3984	broad.mit.edu	37	chr7	73510958	73510958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctctcctgcaggtgttgTgactgcagtgcctccctgtc	10	16	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:73510958T>C	uc003uaa.1	+	3	324	c.159T>C	c.(157-159)TGT>TGC	p.C53C	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.C19C|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	53	LIM zinc-binding 1.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GCAGGTGTTGTGACTGCAGTG	0.612													C	73510958	T	C	73510958	2	2	236	1	0	0	0	0	0	0	0	1	8801	1702	59	3		3	LIMK1	7	73510958	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	631096	73510958	85627705	412	119589											
CLIP2	7461	broad.mit.edu	37	chr7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatgatggggcggtggCgggcaccaggtatggtgggc	21	6	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:73768325C>T	uc003uam.2	+	4	1121	c.794C>T	c.(793-795)GCG>GTG	p.A265V	CLIP2_uc003uan.2_Missense_Mutation_p.A265V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2.					microtubule associated complex				skin(3)	3						GGGGCGGTGGCGGGCACCAGG	0.652													T	73768325	C	T	73768325	3	4	236	1	0	0	0	0	1	0	0	0	3533	768	27	1	804	1	CLIP2	7	73768325	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	257367	73768325	85370338	413	119590											
GTF2I	2969	broad.mit.edu	37	chr7	74131266	74131268	+	In_Frame_Del	DEL	AGA	AGA	-													acagaaatggaagtaccagcAgaaggttaggagaaaaagag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:74131265_74131267CAGA>C	uc003uau.3	+	10	1245_1247	c.875_877CAGA>C	c.(874-879)gcagaa>gCaa	p.E293del	GTF2I_uc003uat.3_In_Frame_Del_p.E273del|GTF2I_uc003uav.3_In_Frame_Del_p.E293del|GTF2I_uc003uaw.3_In_Frame_Del_p.E273del|GTF2I_uc003uay.3_In_Frame_Del_p.E292del|GTF2I_uc003uax.3_In_Frame_Del_p.E273del|BC070376_uc003uaz.3_Intron	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	293					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						GAAGTACCAGCAGAAGGTTAGGA	0.305													-	74131268	AGA	-	74131266	7	5	236	1	0	1	0	1	0	0	0	0	6867	175	7	0	914	0	GTF2I	7	74131266	In_Frame_Del	DEL	AGA	TCGA-F1-6874-01A-11D-1882-08	362941	74131266	85007397	414	119591											
NCF1	653361	broad.mit.edu	37	chr7	74191648	74191648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatggcaggacctgtcGgagaaggtggtctaccggcg	17	8	1	2	rs146173318	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:74191648G>A	uc003ubb.2	+	2	178	c.108G>A	c.(106-108)TCG>TCA	p.S36S	NCF1_uc010lbs.1_Silent_p.S36S|NCF1_uc011kfh.1_Silent_p.S36S	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	36	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			skin(1)	1						AGGACCTGTCGGAGAAGGTGG	0.597													A	74191648	G	A	74191648	2	1	236	1	0	0	0	0	0	0	0	1	10216	1103	39	1		1	NCF1	7	74191648	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	60382	74191648	84947015	415	119592											
PION	54103	broad.mit.edu	37	chr7	77010626	77010626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatttcaaatctttaccactCtatttccatcttcttgggcg	4	11	5	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:77010626C>T	uc003ugf.2	-	8	651	c.572G>A	c.(571-573)AGA>AAA	p.R191K	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	191					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CTTTACCACTCTATTTCCATC	0.284													T	77010626	C	T	77010626	3	4	236	1	0	0	0	0	1	0	0	0	11934	913	32	4	2088	4	PION	7	77010626	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2818978	77010626	82128037	416	119593											
PHTF2	57157	broad.mit.edu	37	chr7	77549656	77549656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacaatggctatgtatcCcttgatgggaagaagactgt	11	7	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:77549656C>T	uc003ugs.3	+	9	963	c.837C>T	c.(835-837)TCC>TCT	p.S279S	PHTF2_uc003ugo.3_Silent_p.S241S|PHTF2_uc003ugp.2_Silent_p.S241S|PHTF2_uc003ugq.3_Silent_p.S241S|PHTF2_uc010ldv.2_Silent_p.S241S|PHTF2_uc003ugr.3_Silent_p.S245S|PHTF2_uc003ugt.3_Silent_p.S245S|PHTF2_uc003ugu.3_Silent_p.S241S|PHTF2_uc003ugv.2_Silent_p.S104S|PHTF2_uc010ldw.1_Silent_p.S104S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						GCTATGTATCCCTTGATGGGA	0.368													T	77549656	C	T	77549656	2	4	236	1	0	0	0	0	0	0	0	1	11863	610	22	4		4	PHTF2	7	77549656	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	539030	77549656	81589007	417	119594											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						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)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	236	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-F1-6874-01A-11D-1882-08	8992867	86542523	72596140	418	119595											
ABCB4	5244	broad.mit.edu	37	chr7	87049339	87049339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagcattgctttaaaagccAttgaccgcagtcttctggtg	9	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:87049339A>G	uc003uiv.1	-	19	2445	c.2369T>C	c.(2368-2370)ATG>ACG	p.M790T	ABCB4_uc003uiw.1_Missense_Mutation_p.M790T|ABCB4_uc003uix.1_Missense_Mutation_p.M790T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	790	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTTAAAAGCCATTGACCGCAG	0.413													G	87049339	A	G	87049339	3	3	236	1	0	0	0	0	1	0	0	0	43	217	8	3	1531	3	ABCB4	7	87049339	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	506816	87049339	72089324	419	119596											
ADAM22	53616	broad.mit.edu	37	chr7	87778316	87778316	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctatgggcactgtgtgcCgagaagcagtaaatgattgt	13	7	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:87778316C>T	uc003ujn.2	+	18	1589	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	ADAM22_uc003ujk.1_Nonsense_Mutation_p.R504*|ADAM22_uc003ujl.1_Nonsense_Mutation_p.R504*|ADAM22_uc003ujm.2_Nonsense_Mutation_p.R504*|ADAM22_uc003ujo.2_Nonsense_Mutation_p.R504*|ADAM22_uc003ujp.1_Nonsense_Mutation_p.R556*	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	504	Disintegrin.|Extracellular (Potential).				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			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACTGTGTGCCGAGAAGCAGT	0.343													T	87778316	C	T	87778316	4	4	236	1	0	0	0	0	0	1	0	0	244	644	23	1	1580	1	ADAM22	7	87778316	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	728977	87778316	71360347	420	119597											
AKAP9	10142	broad.mit.edu	37	chr7	91726403	91726403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggattctttgcaaacacGacagcaaatggaaaaagata	8	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:91726403G>A	uc003ulg.2	+	41	10355	c.10130G>A	c.(10129-10131)CGA>CAA	p.R3377Q	AKAP9_uc003ulf.2_Missense_Mutation_p.R3369Q|AKAP9_uc003uli.2_Missense_Mutation_p.R3000Q|AKAP9_uc003ulj.2_Missense_Mutation_p.R1147Q|AKAP9_uc003ull.2_Missense_Mutation_p.R273Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3381	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			TTGCAAACACGACAGCAAATG	0.418			T	BRAF	papillary thyroid								A	91726403	G	A	91726403	3	1	236	1	0	0	0	0	1	0	0	0	459	1058	37	1	10292	1	AKAP9	7	91726403	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3948087	91726403	67412260	421	119598											
ANKIB1	54467	broad.mit.edu	37	chr7	92027653	92027653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgaagcatccttaggtgCgataggcacttctttacctt	8	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:92027653C>T	uc003ulw.2	+	20	3036	c.2660C>T	c.(2659-2661)GCG>GTG	p.A887V	ANKIB1_uc010lew.1_Missense_Mutation_p.A156V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	887							protein binding|zinc ion binding			lung(1)	1	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)			TCCTTAGGTGCGATAGGCACT	0.488													T	92027653	C	T	92027653	3	4	236	1	0	0	0	0	1	0	0	0	630	768	27	1	2734	1	ANKIB1	7	92027653	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	301250	92027653	67111010	422	119599											
PPP1R9A	55607	broad.mit.edu	37	chr7	94740584	94740584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacaggttttcaacacatActccaatgaagactatgaca	5	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:94740584A>G	uc003unp.2	+	3	1691	c.1409A>G	c.(1408-1410)TAC>TGC	p.Y470C	PPP1R9A_uc010lfj.2_Missense_Mutation_p.Y470C|PPP1R9A_uc011kif.1_Missense_Mutation_p.Y470C|PPP1R9A_uc003unq.2_Missense_Mutation_p.Y470C|PPP1R9A_uc011kig.1_Missense_Mutation_p.Y470C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	470	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCAACACATACTCCAATGAA	0.373										HNSCC(28;0.073)			G	94740584	A	G	94740584	3	3	236	1	0	0	0	0	1	0	0	0	12378	391	14	3	1415	3	PPP1R9A	7	94740584	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2712931	94740584	64398079	423	119600											
DYNC1I1	1780	broad.mit.edu	37	chr7	95665061	95665061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctacacggcttgtcgtcatgGaaggtgatttttctgtttct	10	8	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:95665061G>T	uc003uoc.3	+	13	1689	c.1412G>T	c.(1411-1413)GGA>GTA	p.G471V	DYNC1I1_uc003uod.3_Missense_Mutation_p.G454V|DYNC1I1_uc003uob.2_Missense_Mutation_p.G434V|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G451V|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G460V	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	471	WD 4.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	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)			TGTCGTCATGGAAGGTGATTT	0.438													T	95665061	G	T	95665061	3	4	236	1	0	0	0	0	1	0	0	0	4842	1174	41	5	1458	5	DYNC1I1	7	95665061	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	924477	95665061	63473602	424	119601											
DLX5	1749	broad.mit.edu	37	chr7	96650072	96650072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtgtcccggaggccagCgccagcgggtgctgtaagga	17	10	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:96650072C>T	uc003uon.2	-	3	1054	c.846G>A	c.(844-846)GCG>GCA	p.A282A		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	282					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			ovary(1)	1	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)					CGGAGGCCAGCGCCAGCGGGT	0.522													T	96650072	C	T	96650072	2	4	236	1	0	0	0	0	0	0	0	1	4574	755	27	1		1	DLX5	7	96650072	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	985011	96650072	62488591	425	119602											
ASNS	440	broad.mit.edu	37	chr7	97483924	97483924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcgatctgcgcggagAacatcaaacaaatagagttc	10	8	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:97483924A>G	uc003uot.3	-	10	1712	c.1206T>C	c.(1204-1206)GTT>GTC	p.V402V	ASNS_uc011kin.1_Silent_p.V319V|ASNS_uc003uou.3_Silent_p.V402V|ASNS_uc003uov.3_Silent_p.V402V|ASNS_uc011kio.1_Silent_p.V381V|ASNS_uc003uow.3_Silent_p.V381V|ASNS_uc003uox.3_Silent_p.V319V	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	402	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)	CTGCGCGGAGAACATCAAACA	0.353													G	97483924	A	G	97483924	2	3	236	1	0	0	0	0	0	0	0	1	1048	233	9	3		3	ASNS	7	97483924	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	833852	97483924	61654739	426	119603											
LMTK2	22853	broad.mit.edu	37	chr7	97822375	97822375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacgctgtgactgtcccGgttgaaattctctcaactga	9	12	2	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:97822375G>A	uc003upd.1	+	11	2891	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	866					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					TGACTGTCCCGGTTGAAATTC	0.557													A	97822375	G	A	97822375	2	1	236	1	0	0	0	0	0	0	0	1	8859	1103	39	1		1	LMTK2	7	97822375	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	338451	97822375	61316288	427	119604											
CYP3A7	1551	broad.mit.edu	37	chr7	99315208	99315208	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatcgtattctcttccattCttcatcctcagctatagaga	5	11	4	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:99315208C>A	uc003uru.2	-	5	478	c.373G>T	c.(373-375)GAA>TAA	p.E125*	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	125					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTCTTCCATTCTTCATCCTCA	0.393													A	99315208	C	A	99315208	4	1	236	1	0	0	0	0	0	1	0	0	4181	922	32	5	1174	5	CYP3A7	7	99315208	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1492833	99315208	59823455	428	119605											
C7orf61	402573	broad.mit.edu	37	chr7	100054446	100054446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcagcatggcatcggaCgtggtgccgtctgtgcctct	17	11	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100054446C>T	uc003uuz.1	-	3	796	c.550G>A	c.(550-552)GTC>ATC	p.V184I		NM_001004323	NP_001004323	Q8IZ16	CG061_HUMAN	hypothetical protein LOC402573	184											0						TGGCATCGGACGTGGTGCCGT	0.647													T	100054446	C	T	100054446	3	4	236	1	0	0	0	0	1	0	0	0	2408	536	19	1	74	1	C7orf61	7	100054446	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	739238	100054446	59084217	429	119606											
EPHB4	2050	broad.mit.edu	37	chr7	100404108	100404108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcccacatcacaatcccGtaactccaggcatcactggc	5	18	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100404108G>A	uc003uwn.1	-	14	2909	c.2418C>T	c.(2416-2418)TAC>TAT	p.Y806Y	EPHB4_uc003uwm.1_Silent_p.Y713Y|EPHB4_uc010lhj.1_Silent_p.Y806Y	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	806	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCACAATCCCGTAACTCCAGG	0.552													A	100404108	G	A	100404108	2	1	236	1	0	0	0	0	0	0	0	1	5177	1140	40	1		1	EPHB4	7	100404108	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	349662	100404108	58734555	430	119607											
MUC17	140453	broad.mit.edu	37	chr7	100680308	100680308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagcactgcattaacaAgtatacctgtcagcaccaca	7	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100680308A>C	uc003uxp.1	+	3	5664	c.5611A>C	c.(5611-5613)AGT>CGT	p.S1871R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1871	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCATTAACAAGTATACCTGT	0.498													C	100680308	A	C	100680308	3	2	236	1	0	0	0	0	1	0	0	0	9974	72	3	5	5621	5	MUC17	7	100680308	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	276200	100680308	58458355	431	119608											
MUC17	140453	broad.mit.edu	37	chr7	100680331	100680331	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtcagcaccacaacAgtggccagttctgaaaccaa	7	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100680331A>G	uc003uxp.1	+	3	5687	c.5634A>G	c.(5632-5634)ACA>ACG	p.T1878T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1878	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACAACAGTGGCCAGTT	0.493													G	100680331	A	G	100680331	2	3	236	1	0	0	0	0	0	0	0	1	9974	175	7	3		3	MUC17	7	100680331	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	23	100680331	58458332	432	119609											
MUC17	140453	broad.mit.edu	37	chr7	100683647	100683647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccaatctcaactcctggcGaaagaagaactccattaaca	6	12	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100683647G>A	uc003uxp.1	+	3	9003	c.8950G>A	c.(8950-8952)GAA>AAA	p.E2984K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2984	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGGCGAAAGAAGAAC	0.512													A	100683647	G	A	100683647	3	1	236	1	0	0	0	0	1	0	0	0	9974	1059	37	1	8960	1	MUC17	7	100683647	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3316	100683647	58455016	433	119610											
MUC17	140453	broad.mit.edu	37	chr7	100686859	100686859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagaatccagcaggccGtcaacaattacttctcacac	5	14	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100686859G>A	uc003uxp.1	+	3	12215	c.12162G>A	c.(12160-12162)CCG>CCA	p.P4054P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4054	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCAGGCCGTCAACAATTA	0.532													A	100686859	G	A	100686859	2	1	236	1	0	0	0	0	0	0	0	1	9974	1132	40	1		1	MUC17	7	100686859	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3212	100686859	58451804	434	119611											
VGF	7425	broad.mit.edu	37	chr7	100806796	100806796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcggatccatctcctcgtcGtcctcctcctccccgccctc	6	22	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100806796G>C	uc003uxx.3	-	2	1547	c.1329C>G	c.(1327-1329)GAC>GAG	p.D443E		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	443	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tctcctcgtcgtcctcctcct	0.483													C	100806796	G	C	100806796	3	2	236	1	0	0	0	0	1	0	0	0	17154	1136	40	5	522	5	VGF	7	100806796	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	119937	100806796	58331867	435	119612											
PIK3CG	5294	broad.mit.edu	37	chr7	106520077	106520077	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaattatctttaaacatggTgatgatctgcgccaagacat	9	7	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:106520077T>C	uc003vdv.3	+	6	2590	c.2505T>C	c.(2503-2505)GGT>GGC	p.G835G	PIK3CG_uc003vdu.2_Silent_p.G835G|PIK3CG_uc003vdw.2_Silent_p.G835G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	835	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			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TTAAACATGGTGATGATCTGC	0.328													C	106520077	T	C	106520077	2	2	236	1	0	0	0	0	0	0	0	1	11916	1683	59	3		3	PIK3CG	7	106520077	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	5713281	106520077	52618586	436	119613											
LRRN3	54674	broad.mit.edu	37	chr7	110763232	110763232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgaactgcctgaaaaatGtctgtccgaactgagcaact	8	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:110763232G>T	uc003vft.3	+	4	1450	c.404G>T	c.(403-405)TGT>TTT	p.C135F	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.C135F|LRRN3_uc003vfs.3_Missense_Mutation_p.C135F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	135	LRR 3.|Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		CCTGAAAAATGTCTGTCCGAA	0.363													T	110763232	G	T	110763232	3	4	236	1	0	0	0	0	1	0	0	0	9036	1377	48	5	406	5	LRRN3	7	110763232	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4243155	110763232	48375431	437	119614											
LRRN3	54674	broad.mit.edu	37	chr7	110764173	110764173	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcactgtagagctactgcaGaaccacagcctgaaatctac	7	12	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:110764173G>A	uc003vft.3	+	4	2391	c.1345G>A	c.(1345-1347)GAA>AAA	p.E449K	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E449K|LRRN3_uc003vfs.3_Missense_Mutation_p.E449K	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	449	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		AGCTACTGCAGAACCACAGCC	0.428													A	110764173	G	A	110764173	3	1	236	1	0	0	0	0	1	0	0	0	9036	943	33	4	1347	4	LRRN3	7	110764173	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	941	110764173	48374490	438	119615											
IMMP2L	83943	broad.mit.edu	37	chr7	111127377	111127377	+	Frame_Shift_Del	DEL	C	C	-													accacatcagatgactggctCcccccaggattcaaagaagg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:111127376_111127376TC>T	uc003vfq.2	-	2	600	c.157_157GA>A	c.(157-159)agcfs	p.S53fs	IMMP2L_uc010ljr.2_Frame_Shift_Del_p.S53fs|IMMP2L_uc003vfr.3_Frame_Shift_Del_p.S53fs	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	53					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GATGACTGGCTCCCCCCAGGA	0.413													-	111127377	C	-	111127377	7	5	236	1	0	1	0	1	0	0	0	0	7717	842	30	0	387	0	IMMP2L	7	111127377	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	363204	111127377	48011286	439	119616											
IFRD1	3475	broad.mit.edu	37	chr7	112095822	112095822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttttacctaataggtggCcagcatcgaaatgttcagcc	8	11	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:112095822C>T	uc003vgh.2	+	3	542	c.99C>T	c.(97-99)GGC>GGT	p.G33G	IFRD1_uc011kmn.1_5'UTR|IFRD1_uc003vgi.2_Silent_p.G33G|IFRD1_uc003vgj.2_Silent_p.G33G|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_5'UTR	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						TAATAGGTGGCCAGCATCGAA	0.343													T	112095822	C	T	112095822	2	4	236	1	0	0	0	0	0	0	0	1	7553	726	26	2		2	IFRD1	7	112095822	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	968445	112095822	47042841	440	119617											
CTTNBP2	83992	broad.mit.edu	37	chr7	117513419	117513419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgcggcccccgccgcgtcCtccggggcccgggacaagtc	15	20	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:117513419C>A	uc003vjf.2	-	1	143	c.51G>T	c.(49-51)GAG>GAT	p.E17D		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	17										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ccgccgcgtcctccggggccc	0.453													A	117513419	C	A	117513419	3	1	236	1	0	0	0	0	1	0	0	0	4045	680	24	5	5032	5	CTTNBP2	7	117513419	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5417597	117513419	41625244	441	119618											
CADPS2	93664	broad.mit.edu	37	chr7	122261693	122261693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttccaaattggccattaGcaaattcactgaagaccgca	6	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:122261693G>T	uc010lkp.2	-	5	1109	c.946C>A	c.(946-948)CTA>ATA	p.L316I	CADPS2_uc003vkg.3_Missense_Mutation_p.L16I|CADPS2_uc010lkq.2_Missense_Mutation_p.L316I	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	316					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TTGGCCATTAGCAAATTCACT	0.318													T	122261693	G	T	122261693	3	4	236	1	0	0	0	0	1	0	0	0	2571	962	34	5	3092	5	CADPS2	7	122261693	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4748274	122261693	36876970	442	119619											
FSCN3	29999	broad.mit.edu	37	chr7	127235677	127235677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctacagccccatccaccGctgctatgcccgggctgacc	8	20	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:127235677G>A	uc003vmd.1	+	2	680	c.461G>A	c.(460-462)CGC>CAC	p.R154H	FSCN3_uc003vmc.1_Missense_Mutation_p.R109H|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R20H|FSCN3_uc010llc.1_Missense_Mutation_p.R154H	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	154						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						CCCATCCACCGCTGCTATGCC	0.607													A	127235677	G	A	127235677	3	1	236	1	0	0	0	0	1	0	0	0	6069	1087	38	1	467	1	FSCN3	7	127235677	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4973984	127235677	31902986	443	119620											
CCDC136	64753	broad.mit.edu	37	chr7	128451976	128451976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcggaagaggctgcaGgcagacttgcagctctgcct	16	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:128451976G>A	uc003vnv.1	+	13	2518	c.2151G>A	c.(2149-2151)CAG>CAA	p.Q717Q	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.Q533Q|CCDC136_uc010llq.1_Silent_p.Q86Q|CCDC136_uc003vny.1_Silent_p.Q327Q	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	717	Potential.					integral to membrane	protein binding			ovary(2)	2						AGAGGCTGCAGGCAGACTTGC	0.557													A	128451976	G	A	128451976	2	1	236	1	0	0	0	0	0	0	0	1	2770	991	35	4		4	CCDC136	7	128451976	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1216299	128451976	30686687	444	119621											
NRF1	4899	broad.mit.edu	37	chr7	129394886	129394886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatccctgtgagcatgtaCcagactgtggtgaccagcct	11	12	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:129394886C>T	uc003voz.2	+	11	1494	c.1377C>T	c.(1375-1377)TAC>TAT	p.Y459Y	NRF1_uc003vpa.2_Silent_p.Y478Y|NRF1_uc011kpa.1_Silent_p.Y298Y|NRF1_uc003vpb.2_Silent_p.Y459Y	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	459	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TGAGCATGTACCAGACTGTGG	0.622													T	129394886	C	T	129394886	2	4	236	1	0	0	0	0	0	0	0	1	10646	518	18	4		4	NRF1	7	129394886	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	942910	129394886	29743777	445	119622											
PLXNA4	91584	broad.mit.edu	37	chr7	131872350	131872350	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccccggctgggcttcagaTctgagagagtcagtgtctgt	14	11	4	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:131872350T>A	uc003vra.3	-	15	3102	c.2873A>T	c.(2872-2874)GAT>GTT	p.D958V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	958	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGGCTTCAGATCTGAGAGAGT	0.597													A	131872350	T	A	131872350	3	1	236	1	0	0	0	0	1	0	0	0	12122	1435	50	5	2883	5	PLXNA4	7	131872350	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2477464	131872350	27266313	446	119623											
BPGM	669	broad.mit.edu	37	chr7	134346262	134346262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagttcagccatcagtatGtccaagtacaaacttattat	7	8	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:134346262G>A	uc003vrv.2	+	3	544	c.3G>A	c.(1-3)ATG>ATA	p.M1I	BPGM_uc003vrw.2_Missense_Mutation_p.M1I|BPGM_uc003vrx.2_Missense_Mutation_p.M1I	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	1					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CCATCAGTATGTCCAAGTACA	0.398													A	134346262	G	A	134346262	3	1	236	1	0	0	0	0	1	0	0	0	1488	1377	48	4	5	4	BPGM	7	134346262	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2473912	134346262	24792401	447	119624											
KIAA1549	57670	broad.mit.edu	37	chr7	138603975	138603975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaagatgctgggatctgCtgtacttttggtctgttttc	10	8	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:138603975C>T	uc011kql.1	-	2	446	c.397G>A	c.(397-399)GCA>ACA	p.A133T	KIAA1549_uc003vuk.3_Missense_Mutation_p.A83T|KIAA1549_uc011kqj.1_Missense_Mutation_p.A133T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	133						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CTGGGATCTGCTGTACTTTTG	0.498			O	BRAF	pilocytic astrocytoma								T	138603975	C	T	138603975	3	4	236	1	0	0	0	0	1	0	0	0	8244	797	28	2	5531	2	KIAA1549	7	138603975	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4257713	138603975	20534688	448	119625											
JHDM1D	80853	broad.mit.edu	37	chr7	139791777	139791777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatatactttccattctgaAggcttgagccgctgctgtcc	9	12	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:139791777A>C	uc003vvm.2	-	19	2562	c.2558T>G	c.(2557-2559)CTT>CGT	p.L853R	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	853					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TCCATTCTGAAGGCTTGAGCC	0.453													C	139791777	A	C	139791777	3	2	236	1	0	0	0	0	1	0	0	0	7948	72	3	5	275	5	JHDM1D	7	139791777	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1187802	139791777	19346886	449	119626											
SLC37A3	84255	broad.mit.edu	37	chr7	140051148	140051148	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaacagaactatcatcttgGattgaataattcggctcata	7	8	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:140051148G>A	uc003vvo.2	-	9	973	c.807C>T	c.(805-807)ATC>ATT	p.I269I	SLC37A3_uc003vvp.2_Silent_p.I269I|SLC37A3_uc010lnh.2_Silent_p.I269I|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	269					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					TATCATCTTGGATTGAATAAT	0.438													A	140051148	G	A	140051148	2	1	236	1	0	0	0	0	0	0	0	1	14599	1164	41	4		4	SLC37A3	7	140051148	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	259371	140051148	19087515	450	119627											
DENND2A	27147	broad.mit.edu	37	chr7	140269471	140269471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttgctctccattgacTgggacagcctcttcacccgt	9	14	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:140269471T>G	uc010lnj.2	-	5	1659	c.1514A>C	c.(1513-1515)CAG>CCG	p.Q505P	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Q505P|DENND2A_uc003vvw.2_Missense_Mutation_p.Q505P|DENND2A_uc003vvx.2_Missense_Mutation_p.Q505P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	505										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CTCCATTGACTGGGACAGCCT	0.522													G	140269471	T	G	140269471	3	3	236	1	0	0	0	0	1	0	0	0	4429	1580	55	5	1571	5	DENND2A	7	140269471	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	218323	140269471	18869192	451	119628											
EPHB6	2051	broad.mit.edu	37	chr7	142566348	142566348	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggggcgccgaaagcctgCagatgaccttcctgggccgg	16	14	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:142566348C>T	uc011kst.1	+	15	2924	c.2137C>T	c.(2137-2139)CAG>TAG	p.Q713*	EPHB6_uc011ksu.1_Nonsense_Mutation_p.Q713*|EPHB6_uc003wbs.2_Nonsense_Mutation_p.Q421*|EPHB6_uc003wbt.2_Nonsense_Mutation_p.Q187*|EPHB6_uc003wbu.2_Nonsense_Mutation_p.Q421*|EPHB6_uc003wbv.2_Nonsense_Mutation_p.Q97*	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	713	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CGAAAGCCTGCAGATGACCTT	0.687													T	142566348	C	T	142566348	4	4	236	1	0	0	0	0	0	1	0	0	5178	711	25	2	2179	2	EPHB6	7	142566348	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2296877	142566348	16572315	452	119629											
EPHA1	2041	broad.mit.edu	37	chr7	143097071	143097071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggcccagagagcagcGctccacattcagcttcacgg	12	15	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:143097071G>A	uc003wcz.2	-	4	595	c.508C>T	c.(508-510)CGC>TGC	p.R170C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	170	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGAGAGCAGCGCTCCACATTC	0.622													A	143097071	G	A	143097071	3	1	236	1	0	0	0	0	1	0	0	0	5165	1087	38	1	2482	1	EPHA1	7	143097071	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	530723	143097071	16041592	453	119630											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600793	147600793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagtactactgtaactgCgacgcggactacaagcaatg	9	12	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:147600793C>T	uc003weu.1	+	14	2751	c.2235C>T	c.(2233-2235)TGC>TGT	p.C745C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	745	Extracellular (Potential).|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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			ACTGTAACTGCGACGCGGACT	0.542										HNSCC(39;0.1)			T	147600793	C	T	147600793	2	4	236	1	0	0	0	0	0	0	0	1	3647	776	27	1		1	CNTNAP2	7	147600793	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4503722	147600793	11537870	454	119631											
C7orf33	202865	broad.mit.edu	37	chr7	148311192	148311192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttattgctcctgtatcagCtcccaccaaatctggtgccc	6	14	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:148311192C>A	uc003wew.2	+	2	624	c.263C>A	c.(262-264)GCT>GAT	p.A88D		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	88										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCTGTATCAGCTCCCACCAAA	0.502													A	148311192	C	A	148311192	3	1	236	1	0	0	0	0	1	0	0	0	2388	797	28	5	269	5	C7orf33	7	148311192	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	710399	148311192	10827471	455	119632											
CUL1	8454	broad.mit.edu	37	chr7	148456394	148456394	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtacttttttttctccAgcttgcattggtgacttgga	8	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:148456394A>G	uc010lpg.2	+	5	1010	c.484_splice	c.e5-2	p.L162_splice	CUL1_uc003wey.2_Splice_Site_p.L162_splice|CUL1_uc003wez.2_Splice_Site_p.L52_splice	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1						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			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTTTTTCTCCAGCTTGCATTG	0.368													G	148456394	A	G	148456394	5	3	236	1	0	0	0	0	0	0	1	0	4054	202	7	3	496	3	CUL1	7	148456394	Splice_Site	SNP	A	TCGA-F1-6874-01A-11D-1882-08	145202	148456394	10682269	456	119633											
SSPO	23145	broad.mit.edu	37	chr7	149475959	149475959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggactggctccatctccAtctctgtggaccacgagctc	9	15	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149475959A>G	uc010lpk.2	+	7	925	c.925A>G	c.(925-927)ATC>GTC	p.I309V	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	309	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCATCTCCATCTCTGTGGA	0.627													G	149475959	A	G	149475959	3	3	236	1	0	0	0	0	1	0	0	0	15188	217	8	3	951	3	SSPO	7	149475959	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1019565	149475959	9662704	457	119634											
SSPO	23145	broad.mit.edu	37	chr7	149495203	149495203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcaggaatcccccacGtccccgacaggtgtgtgcac	12	16	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149495203G>A	uc010lpk.2	+	48	6951	c.6951G>A	c.(6949-6951)ACG>ACA	p.T2317T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2317					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AATCCCCCACGTCCCCGACAG	0.652													A	149495203	G	A	149495203	2	1	236	1	0	0	0	0	0	0	0	1	15188	1132	40	1		1	SSPO	7	149495203	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	19244	149495203	9643460	458	119635											
SSPO	23145	broad.mit.edu	37	chr7	149508800	149508800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctcctggccttgtgCggagggtaaggaagcgtccc	15	12	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149508800C>T	uc010lpk.2	+	68	9539	c.9539C>T	c.(9538-9540)GCG>GTG	p.A3180V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3180					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCTTGTGCGGAGGGTAAG	0.567													T	149508800	C	T	149508800	3	4	236	1	0	0	0	0	1	0	0	0	15188	768	27	1	9799	1	SSPO	7	149508800	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	13597	149508800	9629863	459	119636											
ZNF862	643641	broad.mit.edu	37	chr7	149557773	149557773	+	Frame_Shift_Del	DEL	G	G	-													cggttagtcagaggttacacGgggccttttaaagtggagac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149557772_149557772CG>C	uc010lpn.3	+	6	1715	c.1523_1523CG>C	c.(1522-1524)acgfs	p.T508fs		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	508					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						AGAGGTTACACGGGGCCTTTT	0.448													-	149557773	G	-	149557773	7	5	236	1	0	1	0	1	0	0	0	0	18192	1103	39	0	1550	0	ZNF862	7	149557773	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	48973	149557773	9580890	460	119637											
ABP1	26	broad.mit.edu	37	chr7	150555030	150555030	+	Frame_Shift_Del	DEL	C	C	-													cgtccacgccaccttctacaCccccgaggggctgcgccacg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150555029_150555029AC>A	uc003why.1	+	2	5689	c.1471_1471AC>A	c.(1471-1473)accfs	p.T491fs	ABP1_uc003whz.1_Frame_Shift_Del_p.T491fs|ABP1_uc003wia.1_Frame_Shift_Del_p.T491fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	491					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACCTTCTACACCCCCGAGGG	0.562													-	150555030	C	-	150555030	7	5	236	1	0	1	0	1	0	0	0	0	98	507	18	0	1474	0	ABP1	7	150555030	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	997257	150555030	8583633	461	119638											
NOS3	4846	broad.mit.edu	37	chr7	150711160	150711160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaggaggtgacaagccGcatacgcacccagagctttt	10	14	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150711160G>A	uc003wif.2	+	27	3811	c.3515G>A	c.(3514-3516)CGC>CAC	p.R1172H	NOS3_uc011kuy.1_Missense_Mutation_p.R966H|ATG9B_uc003wig.3_Intron|ATG9B_uc011kvc.1_Intron	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	1172					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			central_nervous_system(5)|large_intestine(2)|skin(1)	8	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)	GTGACAAGCCGCATACGCACC	0.612													A	150711160	G	A	150711160	3	1	236	1	0	0	0	0	1	0	0	0	10544	1087	38	1	3899	1	NOS3	7	150711160	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	156130	150711160	8427503	462	119639											
ATG9B	285973	broad.mit.edu	37	chr7	150714284	150714284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgcgccagggagaaccGcatcaaagaaagctcagtct	12	10	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150714284G>A	uc011kvc.1	-	9	2204	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	710	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGAGAACCGCATCAAAGAA	0.617													A	150714284	G	A	150714284	3	1	236	1	0	0	0	0	1	0	0	0	1103	1086	38	1	665	1	ATG9B	7	150714284	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3124	150714284	8424379	463	119640											
SLC4A2	6522	broad.mit.edu	37	chr7	150771824	150771825	+	Frame_Shift_Ins	INS	-	-	C													agaggggctgggtcatcaacINScccctgggagagaagagccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150771823_150771824A>AC	uc022apz.1	+	18	3982_3983	c.2942_2943A>AC	c.(2941-2943)aacfs	p.N981fs	SLC4A2_uc003wit.4_Frame_Shift_Ins_p.N981fs|SLC4A2_uc011kve.2_Frame_Shift_Ins_p.N972fs|SLC4A2_uc003wiu.4_Frame_Shift_Ins_p.N967fs	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	981	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)		TGGGTCATCAACCCCCTGGGAG	0.569													C	150771825	-	C	150771824	7	5	236	1	0	1	1	0	0	0	0	0	14654	506	18	0	3013	0	SLC4A2	7	150771824	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	57540	150771824	8366839	464	119641											
WDR86	349136	broad.mit.edu	37	chr7	151093060	151093060	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggccacctgccacacCttggctgtgccatctgtgct	10	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:151093060C>A	uc003wkb.2	-	3	977	c.528G>T	c.(526-528)AAG>AAT	p.K176N	WDR86_uc003wka.2_Missense_Mutation_p.K134N|WDR86_uc011kvk.1_Missense_Mutation_p.K176N|WDR86_uc003wkc.2_Missense_Mutation_p.K48N	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	176	WD 4.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCACACCTTGGCTGTGC	0.706													A	151093060	C	A	151093060	3	1	236	1	0	0	0	0	1	0	0	0	17331	680	24	5	618	5	WDR86	7	151093060	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	321236	151093060	8045603	465	119642											
MLL3	58508	broad.mit.edu	37	chr7	151874750	151874750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggcccggaaagtctggCcggggaatgaagtttccatg	15	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:151874750C>T	uc003wla.2	-	38	8007	c.7788G>A	c.(7786-7788)CGG>CGA	p.R2596R	MLL3_uc003wkz.2_Silent_p.R1657R|MLL3_uc003wky.2_Silent_p.R105R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2596	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAAAGTCTGGCCGGGGAATGA	0.562			N		medulloblastoma								T	151874750	C	T	151874750	2	4	236	1	0	0	0	0	0	0	0	1	9622	726	26	2		2	MLL3	7	151874750	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	781690	151874750	7263913	466	119643											
NCAPG2	54892	broad.mit.edu	37	chr7	158483354	158483354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcccaccaggtaacaCacaaatcctgaatagaactc	4	14	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:158483354C>T	uc003wnv.1	-	5	588	c.443G>A	c.(442-444)TGT>TAT	p.C148Y	NCAPG2_uc010lqu.1_5'Flank|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.C148Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.C148Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	148					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	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)		CCAGGTAACACACAAATCCTG	0.413													T	158483354	C	T	158483354	3	4	236	1	0	0	0	0	1	0	0	0	10208	478	17	4	3084	4	NCAPG2	7	158483354	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6608604	158483354	655309	467	119644											
ARHGEF10	9639	broad.mit.edu	37	chr8	1851547	1851548	+	Frame_Shift_Del	DEL	AG	AG	-													agagaagttaaatgaaagaaAgagagatgctgatcaacgct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:1851547_1851548delAG	uc003wpr.2	+	16	1929_1930	c.1751_1752delAG	c.(1750-1752)AAGfs	p.K584fs	ARHGEF10_uc003wpq.1_Frame_Shift_Del_p.K608fs|ARHGEF10_uc003wps.2_Frame_Shift_Del_p.K546fs|ARHGEF10_uc003wpt.2_Frame_Shift_Del_p.K460fs|ARHGEF10_uc003wpv.2_Frame_Shift_Del_p.K317fs|ARHGEF10_uc010lre.2_Frame_Shift_Del_p.K264fs	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	609					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			large_intestine(1)	1		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)		AATGAAAGAAAGAGAGATGCTG	0.46													-	1851548	AG	-	1851547	7	5	236	1	0	1	0	1	0	0	0	0	894	72	3	0	1809	0	ARHGEF10	8	1851547	Frame_Shift_Del	DEL	AG	TCGA-F1-6874-01A-11D-1882-08		1851547	144512475	468	119645											
SGK223	157285	broad.mit.edu	37	chr8	8176151	8176151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcatcgaacttgcggTactgggaagcagacacgatc	12	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:8176151T>C	uc003wsh.3	-	5	3734	c.3734A>G	c.(3733-3735)TAC>TGC	p.Y1245C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1245	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GAACTTGCGGTACTGGGAAGC	0.612													C	8176151	T	C	8176151	3	2	236	1	0	0	0	0	1	0	0	0	14210	1638	57	3	478	3	SGK223	8	8176151	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	6324604	8176151	138187871	469	119646											
SOX7	83595	broad.mit.edu	37	chr8	10583758	10583758	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctggcagggggaggagaaGaaggtctgctccggctccag	17	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:10583758G>T	uc003wtf.2	-	2	736	c.657C>A	c.(655-657)TTC>TTA	p.F219L	SOX7_uc011kwz.1_Missense_Mutation_p.F271L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	219					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)	1				COAD - Colon adenocarcinoma(149;0.0732)		GGGAGGAGAAGAAGGTCTGCT	0.687													T	10583758	G	T	10583758	3	4	236	1	0	0	0	0	1	0	0	0	14956	933	33	5	513	5	SOX7	8	10583758	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2407607	10583758	135780264	470	119647											
DLC1	10395	broad.mit.edu	37	chr8	12957554	12957554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgttgcacgcactgagGctccgggtcctcgtaacagg	13	13	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:12957554G>T	uc003wwm.2	-	9	2736	c.2292C>A	c.(2290-2292)AGC>AGA	p.S764R	DLC1_uc003wwk.1_Missense_Mutation_p.S327R|DLC1_uc003wwl.1_Missense_Mutation_p.S361R|DLC1_uc011kxx.1_Missense_Mutation_p.S253R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	764					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						ACGCACTGAGGCTCCGGGTCC	0.572													T	12957554	G	T	12957554	3	4	236	1	0	0	0	0	1	0	0	0	4550	1194	42	5	2334	5	DLC1	8	12957554	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2373796	12957554	133406468	471	119648											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864862	22864862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtgcttccaccagcgaCgggatcttacggggcaacgg	13	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:22864862C>T	uc003xcq.2	+	5	1641	c.1104C>T	c.(1102-1104)GAC>GAT	p.D368D	RHOBTB2_uc003xcp.2_Silent_p.D390D|RHOBTB2_uc011kzp.1_Silent_p.D375D|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	368	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCACCAGCGACGGGATCTTAC	0.637													T	22864862	C	T	22864862	2	4	236	1	0	0	0	0	0	0	0	1	13334	535	19	1		1	RHOBTB2	8	22864862	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	9907308	22864862	123499160	472	119649											
NEFM	4741	broad.mit.edu	37	chr8	24771698	24771698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaataaggagattgaggCggagatccaggcgctgcggc	17	8	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:24771698C>T	uc003xed.3	+	1	425	c.392C>T	c.(391-393)GCG>GTG	p.A131V	NEFM_uc011lac.1_Missense_Mutation_p.A131V|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	131	Rod.|Coil 1A.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		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)		GAGATTGAGGCGGAGATCCAG	0.642													T	24771698	C	T	24771698	3	4	236	1	0	0	0	0	1	0	0	0	10316	768	27	1	394	1	NEFM	8	24771698	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1906836	24771698	121592324	473	119650											
ELP3	55140	broad.mit.edu	37	chr8	27954825	27954825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagcaggggaaagacatcGatctaaataagtaagtggat	12	5	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:27954825G>A	uc003xgo.3	+	2	257	c.109G>A	c.(109-111)GAT>AAT	p.D37N	ELP3_uc003xgn.3_Missense_Mutation_p.D22N|ELP3_uc011laq.1_Intron|ELP3_uc011lar.1_5'UTR|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_5'UTR	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	37					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				0		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)		GAAAGACATCGATCTAAATAA	0.398													A	27954825	G	A	27954825	3	1	236	1	0	0	0	0	1	0	0	0	5081	1058	37	1	115	1	ELP3	8	27954825	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3183127	27954825	118409197	474	119651											
GSR	2936	broad.mit.edu	37	chr8	30550568	30550568	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcattgaatcaaaacttctaAgtacctgcatatcaacatag	4	9	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:30550568A>T	uc003xih.1	-	8	891	c.800T>A	c.(799-801)CTT>CAT	p.L267H		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	267					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	AAAACTTCTAAGTACCTGCAT	0.493													T	30550568	A	T	30550568	3	4	236	1	0	0	0	0	1	0	0	0	6828	72	3	5	792	5	GSR	8	30550568	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2595743	30550568	115813454	475	119652											
TEX15	56154	broad.mit.edu	37	chr8	30694424	30694424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgaaaaaattggctgccGaaaattagaagcaggtattt	10	4	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:30694424G>A	uc003xil.2	-	3	8227	c.8227C>T	c.(8227-8229)CGG>TGG	p.R2743W		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTGGCTGCCGAAAATTAGAA	0.413													A	30694424	G	A	30694424	3	1	236	1	0	0	0	0	1	0	0	0	15776	1057	37	1	150	1	TEX15	8	30694424	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	143856	30694424	115669598	476	119653											
GPR124	25960	broad.mit.edu	37	chr8	37691605	37691606	+	Frame_Shift_Ins	INS	-	-	G													gggtgccctggagcgcattgINSggggggccgccctcagcccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:37691604_37691605T>TG	uc003xkj.3	+	10	1952_1953	c.1566_1567T>TG	c.(1564-1569)attgggfs	p.I522fs	GPR124_uc010lvy.3_Frame_Shift_Ins_p.I522fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	522					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGAGCGCATTGGGGGGGCCGC	0.683													G	37691606	-	G	37691605	7	5	236	1	0	1	1	0	0	0	0	0	6638	1348	47	0	1588	0	GPR124	8	37691605	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	6997181	37691605	108672417	477	119654											
IDO2	169355	broad.mit.edu	37	chr8	39872905	39872905	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagcttataaccagtgTgtgcaggccctggcagagct	12	11	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:39872905T>C	uc010lwy.1	+	11	1289	c.1047T>C	c.(1045-1047)TGT>TGC	p.C349C	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Silent_p.C90C|IDO2_uc003xnp.1_Silent_p.C90C	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	336					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						ATAACCAGTGTGTGCAGGCCC	0.532													C	39872905	T	C	39872905	2	2	236	1	0	0	0	0	0	0	0	1	7502	1702	59	3		3	IDO2	8	39872905	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2181300	39872905	106491117	478	119655											
MYST3	7994	broad.mit.edu	37	chr8	41800346	41800346	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctttcctggcactgtggctCttcgttttctccttcctcag	7	14	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:41800346C>G	uc010lxb.2	-	15	2945	c.2401G>C	c.(2401-2403)GAG>CAG	p.E801Q	MYST3_uc010lxc.2_Missense_Mutation_p.E801Q|MYST3_uc003xon.3_Missense_Mutation_p.E801Q|MYST3_uc010lxd.2_Missense_Mutation_p.E801Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	801	Poly-Glu.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CACTGTGGCTCTTCGTTTTCT	0.418													G	41800346	C	G	41800346	3	3	236	1	0	0	0	0	1	0	0	0	10104	922	32	5	3629	5	MYST3	8	41800346	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1927441	41800346	104563676	479	119656											
SLC20A2	6575	broad.mit.edu	37	chr8	42287757	42287757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaggctaccaggggacCgatggcattactgggaaaaa	12	10	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:42287757C>A	uc010lxl.2	-	9	2228	c.1534G>T	c.(1534-1536)GGT>TGT	p.G512C	SLC20A2_uc010lxm.2_Missense_Mutation_p.G512C|SLC20A2_uc003xpe.2_Missense_Mutation_p.G512C|SLC20A2_uc011lcu.1_Missense_Mutation_p.G314C	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	512	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCAGGGGACCGATGGCATTA	0.398													A	42287757	C	A	42287757	3	1	236	1	0	0	0	0	1	0	0	0	14439	652	23	5	436	5	SLC20A2	8	42287757	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	487411	42287757	104076265	480	119657											
PRKDC	5591	broad.mit.edu	37	chr8	48766746	48766746	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttgtctttagaattaggaTctttaccggaaaacttttca	7	6	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:48766746T>A	uc003xqi.2	-	52	6848	c.6791A>T	c.(6790-6792)GAT>GTT	p.D2264V	PRKDC_uc003xqj.2_Missense_Mutation_p.D2264V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2264					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGAATTAGGATCTTTACCGGA	0.408								NHEJ					A	48766746	T	A	48766746	3	1	236	1	0	0	0	0	1	0	0	0	12521	1435	50	5	5739	5	PRKDC	8	48766746	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	6478989	48766746	97597276	481	119658											
PRKDC	5591	broad.mit.edu	37	chr8	48801690	48801690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgagccataacctggaCgtctccgatgttgaaaccta	9	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:48801690C>T	uc003xqi.2	-	34	4222	c.4165G>A	c.(4165-4167)GTC>ATC	p.V1389I	PRKDC_uc003xqj.2_Missense_Mutation_p.V1389I|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1389					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAACCTGGACGTCTCCGATG	0.468								NHEJ					T	48801690	C	T	48801690	3	4	236	1	0	0	0	0	1	0	0	0	12521	536	19	1	8437	1	PRKDC	8	48801690	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	34944	48801690	97562332	482	119659											
PRKDC	5591	broad.mit.edu	37	chr8	48849059	48849059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagtcaacatcttttgCgtttataaccttgcacggct	7	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:48849059C>T	uc003xqi.2	-	12	1189	c.1132G>A	c.(1132-1134)GCA>ACA	p.A378T	PRKDC_uc003xqj.2_Missense_Mutation_p.A378T|PRKDC_uc011ldh.1_Missense_Mutation_p.A378T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	378					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACATCTTTTGCGTTTATAACC	0.408								NHEJ					T	48849059	C	T	48849059	3	4	236	1	0	0	0	0	1	0	0	0	12521	768	27	1	11553	1	PRKDC	8	48849059	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	47369	48849059	97514963	483	119660											
PXDNL	137902	broad.mit.edu	37	chr8	52321691	52321691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgcagacggagctgcaCggccgcccatccgagaagcg	15	13	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:52321691C>T	uc003xqu.3	-	17	2594	c.2493G>A	c.(2491-2493)CCG>CCA	p.P831P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	831					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGGAGCTGCACGGCCGCCCAT	0.667													T	52321691	C	T	52321691	2	4	236	1	0	0	0	0	0	0	0	1	12848	523	19	1		1	PXDNL	8	52321691	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3472632	52321691	94042331	484	119661											
MRPL15	29088	broad.mit.edu	37	chr8	55049965	55049965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccatccagccacttaaaaGggattatggtgtccagctgg	11	10	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:55049965G>T	uc003xsa.2	+	3	464	c.401G>T	c.(400-402)AGG>ATG	p.R134M		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor	134					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CCACTTAAAAGGGATTATGGT	0.363													T	55049965	G	T	55049965	3	4	236	1	0	0	0	0	1	0	0	0	9780	1000	35	5	411	5	MRPL15	8	55049965	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2728274	55049965	91314057	485	119662											
TOX	9760	broad.mit.edu	37	chr8	59750826	59750827	+	Frame_Shift_Ins	INS	-	-	T													tctttttgggagtttttggtINStttttccccatatcagaggc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:59750825_59750826G>GT	uc003xtw.1	-	4	959_960	c.738_739C>AC	c.(736-741)aaaccafs	p.K246fs		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	246						nucleus	DNA binding	p.K245E(1)		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)				GGAGTTTTTGGTTTTTTCCCCA	0.45													T	59750827	-	T	59750826	7	5	236	1	0	1	1	0	0	0	0	0	16374	1722	60	0	862	0	TOX	8	59750826	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	4700861	59750826	86613196	486	119663											
BHLHE22	27319	broad.mit.edu	37	chr8	65493461	65493461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggctttccgctccacGcccccgggcatggacctgtc	12	17	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:65493461G>A	uc003xvi.2	+	1	648	c.114G>A	c.(112-114)ACG>ACA	p.T38T	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TCCGCTCCACGCCCCCGGGCA	0.731													A	65493461	G	A	65493461	2	1	236	1	0	0	0	0	0	0	0	1	1421	1074	38	1		1	BHLHE22	8	65493461	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5742635	65493461	80870561	487	119664											
ARFGEF1	10565	broad.mit.edu	37	chr8	68137212	68137212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgggaaccatcctctcacCcacaccctgtcttcaggtgc	7	16	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:68137212C>A	uc003xxo.1	-	29	4524	c.4134G>T	c.(4132-4134)TGG>TGT	p.W1378C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.W832C|ARFGEF1_uc003xxn.1_Missense_Mutation_p.W361C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1378					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			ATCCTCTCACCCACACCCTGT	0.368													A	68137212	C	A	68137212	3	1	236	1	0	0	0	0	1	0	0	0	852	624	22	5	1459	5	ARFGEF1	8	68137212	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2643751	68137212	78226810	488	119665											
SULF1	23213	broad.mit.edu	37	chr8	70488249	70488249	+	Frame_Shift_Del	DEL	G	G	-													cgagaaagattatggaacatGggggggccaccttcatcaat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:70488249delG	uc010lza.1	+	6	934	c.217delG	c.(217-219)GGGfs	p.G73fs	SULF1_uc003xyd.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xye.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.G73fs	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	73					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TATGGAACATGGGGGGGCCAC	0.493													-	70488249	G	-	70488249	7	5	236	1	0	1	0	1	0	0	0	0	15369	1348	47	0	223	0	SULF1	8	70488249	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	2351037	70488249	75875773	489	119666											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585289	70585289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatctagtccgggcattgtCggggtgtcccactctctcac	11	13	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:70585289C>T	uc003xyl.2	-	10	3069	c.2362G>A	c.(2362-2364)GAC>AAC	p.D788N	SLCO5A1_uc010lzb.2_Missense_Mutation_p.D733N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	788	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGGGCATTGTCGGGGTGTCCC	0.557													T	70585289	C	T	70585289	3	4	236	1	0	0	0	0	1	0	0	0	14731	884	31	1	188	1	SLCO5A1	8	70585289	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	97040	70585289	75778733	490	119667											
NCOA2	10499	broad.mit.edu	37	chr8	71041044	71041044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcatacggagtgtggCataactaggccgctgtccca	14	11	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:71041044C>T	uc003xyn.1	-	17	3658	c.3496G>A	c.(3496-3498)GCC>ACC	p.A1166T	NCOA2_uc011lfb.1_Missense_Mutation_p.A254T	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1166					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CGGAGTGTGGCATAACTAGGC	0.547			T	RUNXBP2	AML								T	71041044	C	T	71041044	3	4	236	1	0	0	0	0	1	0	0	0	10229	710	25	2	926	2	NCOA2	8	71041044	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	455755	71041044	75322978	491	119668											
CRISPLD1	83690	broad.mit.edu	37	chr8	75928931	75928931	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgaagtcataagcgcaCagcaaatgtgtaagacctcc	9	9	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:75928931C>T	uc003yan.2	+	7	1234	c.859C>T	c.(859-861)CAG>TAG	p.Q287*	CRISPLD1_uc011lfk.1_Nonsense_Mutation_p.Q99*|CRISPLD1_uc011lfl.1_Nonsense_Mutation_p.Q99*	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	287						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATAAGCGCACAGCAAATGTG	0.338													T	75928931	C	T	75928931	4	4	236	1	0	0	0	0	0	1	0	0	3882	479	17	4	881	4	CRISPLD1	8	75928931	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4887887	75928931	70435091	492	119669											
SLC10A5	347051	broad.mit.edu	37	chr8	82605999	82605999	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatccagaacacatggcTactgtaaaaggagccacaga	8	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:82605999T>C	uc011lfs.1	-	1	1209	c.1209A>G	c.(1207-1209)GTA>GTG	p.V403V		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	403	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0						AACACATGGCTACTGTAAAAG	0.363													C	82605999	T	C	82605999	2	2	236	1	0	0	0	0	0	0	0	1	14377	1509	53	3		3	SLC10A5	8	82605999	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	6677068	82605999	63758023	493	119670											
INTS8	55656	broad.mit.edu	37	chr8	95848830	95848830	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaatgccagggaaaaaTtttttagaaccaaagaacta	7	5	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:95848830T>A	uc003yhb.2	+	7	958	c.832T>A	c.(832-834)TTT>ATT	p.F278I	INTS8_uc003yha.1_Missense_Mutation_p.F278I|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.F105I	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	278	TPR 1.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					CAGGGAAAAATTTTTTAGAAC	0.348													A	95848830	T	A	95848830	3	1	236	1	0	0	0	0	1	0	0	0	7784	1493	52	5	858	5	INTS8	8	95848830	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	13242831	95848830	50515192	494	119671											
C8orf38	137682	broad.mit.edu	37	chr8	96047736	96047736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcgaatgcagttttggAaaaaaactgtggaagatata	11	3	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:96047736A>G	uc003yhj.2	+	3	368	c.352A>G	c.(352-354)AAA>GAA	p.K118E	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Missense_Mutation_p.K26E|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.K66E|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.K26E	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	118					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					GCAGTTTTGGAAAAAAACTGT	0.348													G	96047736	A	G	96047736	3	3	236	1	0	0	0	0	1	0	0	0	2424	247	9	3	362	3	C8orf38	8	96047736	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	198906	96047736	50316286	495	119672											
MTDH	92140	broad.mit.edu	37	chr8	98699693	98699693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattagtcacagagagaaacGacagcagcgtaaacgtgata	10	7	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:98699693G>A	uc003yhz.2	+	4	933	c.605G>A	c.(604-606)CGA>CAA	p.R202Q		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	202	Cytoplasmic (Potential).|Interaction with RELA.				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			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AGAGAGAAACGACAGCAGCGT	0.408													A	98699693	G	A	98699693	3	1	236	1	0	0	0	0	1	0	0	0	9917	1058	37	1	619	1	MTDH	8	98699693	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2651957	98699693	47664329	496	119673											
POP1	10940	broad.mit.edu	37	chr8	99168419	99168419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagcttcatctccaaatggTaaggagagtgacctaagaag	11	7	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:99168419T>C	uc003yij.3	+	15	2299	c.2199T>C	c.(2197-2199)GGT>GGC	p.G733G	POP1_uc011lgv.1_Silent_p.G733G|POP1_uc003yik.2_Silent_p.G733G	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	733					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCAAATGGTAAGGAGAGTG	0.498													C	99168419	T	C	99168419	2	2	236	1	0	0	0	0	0	0	0	1	12251	1625	57	3		3	POP1	8	99168419	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	468726	99168419	47195603	497	119674											
UBR5	51366	broad.mit.edu	37	chr8	103311747	103311747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaagagatcccacagcGggggccaggataaaatcaat	13	8	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:103311747G>A	uc003ykr.1	-	24	3168	c.3135C>T	c.(3133-3135)CCC>CCT	p.P1045P	UBR5_uc003yks.1_Silent_p.P1045P	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1045					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			ATCCCACAGCGGGGGCCAGGA	0.443													A	103311747	G	A	103311747	2	1	236	1	0	0	0	0	0	0	0	1	16902	1103	39	1		1	UBR5	8	103311747	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4143328	103311747	43052275	498	119675											
UBR5	51366	broad.mit.edu	37	chr8	103359305	103359305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacttccacccactccAgaactccagcggcttctaaa	4	19	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:103359305A>G	uc003ykr.1	-	6	435	c.402T>C	c.(400-402)TCT>TCC	p.S134S	UBR5_uc003yks.1_Silent_p.S134S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	134				S -> P (in Ref. 2; AAF88143).	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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			CACCCACTCCAGAACTCCAGC	0.438													G	103359305	A	G	103359305	2	3	236	1	0	0	0	0	0	0	0	1	16902	175	7	3		3	UBR5	8	103359305	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	47558	103359305	43004717	499	119676											
RIMS2	9699	broad.mit.edu	37	chr8	105261792	105261792	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgtggccttgttgtaAaaccaggttccaagacactg	12	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:105261792A>C	uc003yls.2	+	26	3962	c.3721A>C	c.(3721-3723)AAA>CAA	p.K1241Q	RIMS2_uc003ylp.2_Missense_Mutation_p.K1223Q|RIMS2_uc003ylw.2_Missense_Mutation_p.K1230Q|RIMS2_uc003ylq.2_Missense_Mutation_p.K1037Q|RIMS2_uc003ylr.2_Missense_Mutation_p.K1062Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1285	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTTGTTGTAAAACCAGGTTC	0.398										HNSCC(12;0.0054)			C	105261792	A	C	105261792	3	2	236	1	0	0	0	0	1	0	0	0	13368	15	1	5	3949	5	RIMS2	8	105261792	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1902487	105261792	41102230	500	119677											
TM7SF4	81501	broad.mit.edu	37	chr8	105361753	105361753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcggctcattttctcagtgAgcaagcagtttcaaagcttg	9	9	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:105361753A>G	uc003ylx.1	+	2	1022	c.973A>G	c.(973-975)AGC>GGC	p.S325G		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	325					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTCTCAGTGAGCAAGCAGTT	0.438													G	105361753	A	G	105361753	3	3	236	1	0	0	0	0	1	0	0	0	15973	304	11	3	975	3	TM7SF4	8	105361753	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	99961	105361753	41002269	501	119678											
LRP12	29967	broad.mit.edu	37	chr8	105503494	105503494	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagatgctcctgccatatCtcttctctcattttctgtgt	5	13	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:105503494C>A	uc003yma.2	-	7	2082	c.1987G>T	c.(1987-1989)GAT>TAT	p.D663Y	LRP12_uc003ymb.2_Missense_Mutation_p.D644Y|LRP12_uc003ylz.2_Missense_Mutation_p.D69Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	663	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGCCATATCTCTTCTCTCA	0.483													A	105503494	C	A	105503494	3	1	236	1	0	0	0	0	1	0	0	0	8954	913	32	5	596	5	LRP12	8	105503494	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	141741	105503494	40860528	502	119679											
ANGPT1	284	broad.mit.edu	37	chr8	108348381	108348381	+	Frame_Shift_Del	DEL	T	T	-													aataaagcaatcctcacctgTttttttcatggatcttcaag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:108348381delT	uc003ymn.2	-	3	1040	c.572delA	c.(571-573)AACfs	p.N191fs	ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Frame_Shift_Del_p.N191fs	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	191	Potential.				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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCCTCACCTGTTTTTTTCATG	0.368													-	108348381	T	-	108348381	7	5	236	1	0	1	0	1	0	0	0	0	610	1725	60	0	952	0	ANGPT1	8	108348381	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	2844887	108348381	38015641	503	119680											
SYBU	55638	broad.mit.edu	37	chr8	110590244	110590244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacatgtaccttccagaaCgcctgaaacaatccaagtaa	6	11	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:110590244C>T	uc003ynj.3	-	6	900	c.737G>A	c.(736-738)CGT>CAT	p.R246H	SYBU_uc003yni.3_Missense_Mutation_p.R243H|SYBU_uc003ynk.3_Missense_Mutation_p.R127H|SYBU_uc010mco.2_Missense_Mutation_p.R245H|SYBU_uc003ynl.3_Missense_Mutation_p.R245H|SYBU_uc010mcp.2_Missense_Mutation_p.R246H|SYBU_uc010mcq.2_Missense_Mutation_p.R246H|SYBU_uc003yno.3_Missense_Mutation_p.R127H|SYBU_uc010mcr.2_Missense_Mutation_p.R246H|SYBU_uc003ynm.3_Missense_Mutation_p.R245H|SYBU_uc003ynn.3_Missense_Mutation_p.R245H|SYBU_uc010mcs.2_Missense_Mutation_p.R127H|SYBU_uc010mct.2_Missense_Mutation_p.R246H|SYBU_uc010mcu.2_Missense_Mutation_p.R245H|SYBU_uc003ynp.3_Missense_Mutation_p.R178H|SYBU_uc010mcv.2_Missense_Mutation_p.R246H|SYBU_uc003ynh.3_Missense_Mutation_p.R40H|SYBU_uc011lhw.1_Missense_Mutation_p.R116H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	246	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCTTCCAGAACGCCTGAAACA	0.373													T	110590244	C	T	110590244	3	4	236	1	0	0	0	0	1	0	0	0	15424	536	19	1	1262	1	SYBU	8	110590244	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2241863	110590244	35773778	504	119681											
MAL2	114569	broad.mit.edu	37	chr8	120252427	120252428	+	Frame_Shift_Ins	INS	-	-	T													tttgcctaccattttacagtINSatttgtcttctattttggag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:120252426_120252427G>GT	uc003yop.3	+	3	427_428	c.325_326G>GT	c.(325-327)gtafs	p.V109fs		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	109	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCATTTTACAGTATTTGTCTTC	0.356													T	120252428	-	T	120252427	7	5	236	1	0	1	1	0	0	0	0	0	9200	1638	57	0	337	0	MAL2	8	120252427	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	9662183	120252427	26111595	505	119682											
WDR67	93594	broad.mit.edu	37	chr8	124121715	124121715	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatatttttatttcagaAtgttcatttggcgctctctg	6	6	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:124121715A>C	uc003ypp.1	+	10	1381	c.1291A>C	c.(1291-1293)ATG>CTG	p.M431L	WDR67_uc011lig.1_Missense_Mutation_p.M431L|WDR67_uc011lih.1_Missense_Mutation_p.M321L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.M144L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	431	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTATTTCAGAATGTTCATTTG	0.343													C	124121715	A	C	124121715	3	2	236	1	0	0	0	0	1	0	0	0	17315	115	4	5	1329	5	WDR67	8	124121715	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	3869288	124121715	22242307	506	119683											
COL22A1	169044	broad.mit.edu	37	chr8	139606333	139606333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctcccccatggggccGgcccggcctggaagcccatc	13	19	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:139606333G>A	uc003yvd.2	-	63	4989	c.4542C>T	c.(4540-4542)GCC>GCT	p.A1514A	COL22A1_uc011ljo.1_Silent_p.A794A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1514	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			CCATGGGGCCGGCCCGGCCTG	0.657										HNSCC(7;0.00092)			A	139606333	G	A	139606333	2	1	236	1	0	0	0	0	0	0	0	1	3681	1103	39	1		1	COL22A1	8	139606333	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	15484618	139606333	6757689	507	119684											
TRAPPC9	83696	broad.mit.edu	37	chr8	141262910	141262910	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagattctcctggcaGgagaaatccagcttcacttt	10	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:141262910G>T	uc003yvj.2	-	16	2531	c.2397C>A	c.(2395-2397)TCC>TCA	p.S799S	TRAPPC9_uc003yvh.2_Silent_p.S897S|TRAPPC9_uc010mel.1_Silent_p.S220S|TRAPPC9_uc003yvi.1_Silent_p.S790S	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	799					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						TCTCCTGGCAGGAGAAATCCA	0.502													T	141262910	G	T	141262910	2	4	236	1	0	0	0	0	0	0	0	1	16462	987	35	5		5	TRAPPC9	8	141262910	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1656577	141262910	5101112	508	119685											
DENND3	22898	broad.mit.edu	37	chr8	142178528	142178528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaagctgcccaagaagCacatgcagctgggcgacttc	11	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:142178528C>T	uc003yvy.2	+	13	2217	c.1939C>T	c.(1939-1941)CAC>TAC	p.H647Y	DENND3_uc010mep.2_Missense_Mutation_p.H608Y|DENND3_uc003yvz.1_Missense_Mutation_p.H331Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	647										ovary(1)	1	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)			GCCCAAGAAGCACATGCAGCT	0.592													T	142178528	C	T	142178528	3	4	236	1	0	0	0	0	1	0	0	0	4432	710	25	2	1985	2	DENND3	8	142178528	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	915618	142178528	4185494	509	119686											
GPIHBP1	338328	broad.mit.edu	37	chr8	144297001	144297001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgcccacgggaacaccGgtaagtgggcgtggggccgc	16	12	1	0	rs147455726		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:144297001G>A	uc003yxu.1	+	3	370	c.295G>A	c.(295-297)GAG>AAG	p.E99K		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	99	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGGGAACACCGGTAAGTGGGC	0.672													A	144297001	G	A	144297001	3	1	236	1	0	0	0	0	1	0	0	0	6612	1130	39	1	305	1	GPIHBP1	8	144297001	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2118473	144297001	2067021	510	119687											
ZFP41	286128	broad.mit.edu	37	chr8	144331928	144331928	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgggagtgtggagagGtgcgtgggaagcaagccatt	18	7	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:144331928G>A	uc003yxw.2	+	2	273	c.-85G>A	c.(-87--83)AGGTG>AGATG		ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			GTGTGGAGAGGTGCGTGGGAA	0.577													A	144331928	G	A	144331928	1	1	236	1	0	0	0	0	0	0	0	0	17646	1276	44	4		4	ZFP41	8	144331928	Translation_Start_Site	SNP	G	TCGA-F1-6874-01A-11D-1882-08	34927	144331928	2032094	511	119688											
TSTA3	7264	broad.mit.edu	37	chr8	144696548	144696548	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgtggccatcctcgatgttGaagttgtcgtggggcccgaa	14	10	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:144696548G>T	uc003yza.2	-	6	576	c.540C>A	c.(538-540)TTC>TTA	p.F180L	TSTA3_uc003yzb.2_Missense_Mutation_p.F180L	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	180					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCTCGATGTTGAAGTTGTCGT	0.652													T	144696548	G	T	144696548	3	4	236	1	0	0	0	0	1	0	0	0	16671	1281	45	5	449	5	TSTA3	8	144696548	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	364620	144696548	1667474	512	119689											
GPR172A	79581	broad.mit.edu	37	chr8	145584371	145584371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggcgggggtggtcctcGtggtgagcacagggggacat	19	10	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:145584371G>A	uc003zcc.1	+	4	1280	c.1123G>A	c.(1123-1125)GTG>ATG	p.V375M	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.V375M|GPR172A_uc003zce.1_Missense_Mutation_p.V375M|GPR172A_uc010mfy.1_Missense_Mutation_p.V375M|GPR172A_uc003zcf.1_Missense_Mutation_p.V375M|GPR172A_uc011llc.1_Missense_Mutation_p.V287M	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	375	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	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)			GGTGGTCCTCGTGGTGAGCAC	0.692													A	145584371	G	A	145584371	3	1	236	1	0	0	0	0	1	0	0	0	6669	1145	40	1	1133	1	GPR172A	8	145584371	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	887823	145584371	779651	513	119690											
RECQL4	9401	broad.mit.edu	37	chr8	145737698	145737698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagcacccctgtcccaCgccgcacacctgccggaaag	8	20	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:145737698C>T	uc003zdj.2	-	19	3097	c.3065G>A	c.(3064-3066)CGT>CAT	p.R1022H		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1022					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)|lung(1)|skin(1)	4	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)			CCCTGTCCCACGCCGCACACC	0.647			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				T	145737698	C	T	145737698	3	4	236	1	0	0	0	0	1	0	0	0	13202	536	19	1	577	1	RECQL4	8	145737698	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	153327	145737698	626324	514	119691											
PTPRD	5789	broad.mit.edu	37	chr9	8499822	8499822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctctacctcgactttgCgaggaggaccactaggaact	10	13	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:8499822C>T	uc003zkk.2	-	24	2858	c.2147G>A	c.(2146-2148)CGC>CAC	p.R716H	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R716H|PTPRD_uc003zkm.2_Missense_Mutation_p.R703H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	716	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		CTCGACTTTGCGAGGAGGACC	0.448										TSP Lung(15;0.13)			T	8499822	C	T	8499822	3	4	236	1	0	0	0	0	1	0	0	0	12799	768	27	1	3747	1	PTPRD	9	8499822	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08		8499822	132713609	515	119692											
PSIP1	11168	broad.mit.edu	37	chr9	15465556	15465557	+	Frame_Shift_Ins	INS	-	-	TC													tccttcagagatatttcagtINSctctctctcttcactggatg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:15465555_15465556G>GTC	uc003zlv.4	-	15	1885_1886	c.1555_1556C>GAC	c.(1555-1557)actfs	p.T519fs	PSIP1_uc003zlw.4_Frame_Shift_Ins_p.T519fs|SNAPC3_uc003zlu.3_Non-coding_Transcript	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	519					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	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AGATATTTCAGTCTCTCTCTCT	0.366													TC	15465557	-	TC	15465556	7	5	236	1	0	1	1	0	0	0	0	0	12663	1667	58	0	41	0	PSIP1	9	15465556	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	6965734	15465556	125747875	516	119693											
NOL6	65083	broad.mit.edu	37	chr9	33463912	33463912	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggaccacaagctgctGcaggatctgcggggtacaga	14	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:33463912G>A	uc003zsz.2	-	23	3012	c.2911C>T	c.(2911-2913)CAG>TAG	p.Q971*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Nonsense_Mutation_p.Q25*|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.Q968*|NOL6_uc011lob.1_Nonsense_Mutation_p.Q919*|NOL6_uc003ztb.1_Nonsense_Mutation_p.Q971*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	971					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACAAGCTGCTGCAGGATCTGC	0.567													A	33463912	G	A	33463912	4	1	236	1	0	0	0	0	0	1	0	0	10525	1328	46	2	545	2	NOL6	9	33463912	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	17998356	33463912	107749519	517	119694											
NOL6	65083	broad.mit.edu	37	chr9	33464952	33464952	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgataccaagaaaaggaatcGaaggaagccaacctgggggg	14	7	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:33464952G>A	uc003zsz.2	-	21	2805	c.2704C>T	c.(2704-2706)CGA>TGA	p.R902*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'UTR|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.R899*|NOL6_uc011lob.1_Nonsense_Mutation_p.R850*|NOL6_uc003ztb.1_Nonsense_Mutation_p.R902*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	902					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AAAAGGAATCGAAGGAAGCCA	0.502													A	33464952	G	A	33464952	4	1	236	1	0	0	0	0	0	1	0	0	10525	1066	37	1	760	1	NOL6	9	33464952	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1040	33464952	107748479	518	119695											
KIAA1161	57462	broad.mit.edu	37	chr9	34371859	34371859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcatcgaagtcgaagtcGccataagcaggtgtgtacat	10	10	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:34371859G>A	uc003zue.3	-	3	1250	c.1083C>T	c.(1081-1083)GGC>GGT	p.G361G		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	361	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGTCGAAGTCGCCATAAGCAG	0.592													A	34371859	G	A	34371859	2	1	236	1	0	0	0	0	0	0	0	1	8211	1074	38	1		1	KIAA1161	9	34371859	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	906907	34371859	106841572	519	119696											
TLN1	7094	broad.mit.edu	37	chr9	35713239	35713239	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctctcccagtagctgggcGatggctgagctcacggcttt	12	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:35713239G>A	uc003zxt.2	-	26	3660	c.3306C>T	c.(3304-3306)ATC>ATT	p.I1102I		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1102					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTAGCTGGGCGATGGCTGAGC	0.542													A	35713239	G	A	35713239	2	1	236	1	0	0	0	0	0	0	0	1	15944	1048	37	1		1	TLN1	9	35713239	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1341380	35713239	105500192	520	119697											
NPR2	4882	broad.mit.edu	37	chr9	35806228	35806228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcattcggcgctttaaCaagtgagagggcattatggg	14	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:35806228C>T	uc003zyd.2	+	15	2370	c.2370C>T	c.(2368-2370)AAC>AAT	p.N790N	NPR2_uc010mlb.2_Silent_p.N766N	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	790	Cytoplasmic (Potential).				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			ovary(2)|stomach(1)	3	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)	GGCGCTTTAACAAGTGAGAGG	0.537													T	35806228	C	T	35806228	2	4	236	1	0	0	0	0	0	0	0	1	10595	477	17	4		4	NPR2	9	35806228	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	92989	35806228	105407203	521	119698											
FRMPD1	22844	broad.mit.edu	37	chr9	37746497	37746497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagagatgcagggggccGtgcgtgacaccttccagcac	14	13	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:37746497G>A	uc004aag.1	+	16	4512	c.4468G>A	c.(4468-4470)GTG>ATG	p.V1490M	FRMPD1_uc004aah.1_Missense_Mutation_p.V1490M	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1490						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GCAGGGGGCCGTGCGTGACAC	0.652													A	37746497	G	A	37746497	3	1	236	1	0	0	0	0	1	0	0	0	6057	1145	40	1	4526	1	FRMPD1	9	37746497	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1940269	37746497	103466934	522	119699											
ZNF658	26149	broad.mit.edu	37	chr9	40775010	40775010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtttttcccggatccCtttgatgtgatcaactttaa	6	9	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:40775010C>A	uc004abs.2	-	5	417	c.265G>T	c.(265-267)GGG>TGG	p.G89W	ZNF658_uc010mmm.1_Missense_Mutation_p.G89W|ZNF658_uc010mmn.1_Missense_Mutation_p.G89W	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCCCGGATCCCTTTGATGTGA	0.308													A	40775010	C	A	40775010	3	1	236	1	0	0	0	0	1	0	0	0	18066	681	24	5	2918	5	ZNF658	9	40775010	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3028513	40775010	100438421	523	119700											
VPS13A	23230	broad.mit.edu	37	chr9	79897181	79897181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaaggagatgtcattAaaaaattaggtatgtttttt	8	2	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:79897181A>G	uc004akr.2	+	29	3369	c.3109A>G	c.(3109-3111)AAA>GAA	p.K1037E	VPS13A_uc004akp.3_Missense_Mutation_p.K1037E|VPS13A_uc004akq.3_Missense_Mutation_p.K1037E|VPS13A_uc004aks.2_Missense_Mutation_p.K1037E	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1037					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGATGTCATTAAAAAATTAGG	0.299													G	79897181	A	G	79897181	3	3	236	1	0	0	0	0	1	0	0	0	17186	363	13	3	3223	3	VPS13A	9	79897181	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	39122171	79897181	61316250	524	119701											
AUH	549	broad.mit.edu	37	chr9	93983209	93983209	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttgccatcgaggactcGcgcagagaatatgagctcct	10	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:93983209G>A	uc004arf.3	-	7	756	c.721C>T	c.(721-723)CGA>TGA	p.R241*	AUH_uc004arg.3_Nonsense_Mutation_p.R212*	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	241					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						TCGAGGACTCGCGCAGAGAAT	0.557													A	93983209	G	A	93983209	4	1	236	1	0	0	0	0	0	1	0	0	1219	1095	38	1	314	1	AUH	9	93983209	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	14086028	93983209	47230222	525	119702											
IPPK	64768	broad.mit.edu	37	chr9	95418758	95418759	+	Frame_Shift_Ins	INS	-	-	C													ccataatgaacatagttctcINSccccaaaaactccttcatga							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:95418757_95418758T>TC	uc004asl.1	-	2	482_483	c.205_206A>GA	c.(205-207)gagfs	p.E69fs		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	69					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AACATAGTTCTCCCCCAAAAAC	0.421													C	95418759	-	C	95418758	7	5	236	1	0	1	1	0	0	0	0	0	7801	864	30	0	1314	0	IPPK	9	95418758	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1435549	95418758	45794673	526	119703											
COL15A1	1306	broad.mit.edu	37	chr9	101829222	101829222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcgagctgattttcagtGcttcaagcaggccagagctg	11	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:101829222G>A	uc004azb.1	+	40	3916	c.3710G>A	c.(3709-3711)TGC>TAC	p.C1237Y		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1237	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GATTTTCAGTGCTTCAAGCAG	0.473													A	101829222	G	A	101829222	3	1	236	1	0	0	0	0	1	0	0	0	3672	1319	46	2	3868	2	COL15A1	9	101829222	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6410464	101829222	39384209	527	119704											
FKTN	2218	broad.mit.edu	37	chr9	108397407	108397407	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtaccctgtgaaaccctCgaatacattgaagccaacta	6	12	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:108397407C>T	uc004bcr.2	+	11	1464	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L	FKTN_uc011lvx.1_Silent_p.L416L|FKTN_uc004bcs.2_Silent_p.L416L|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Silent_p.L284L	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	416	Lumenal (Potential).				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(2)|ovary(1)	3						GTGAAACCCTCGAATACATTG	0.483													T	108397407	C	T	108397407	2	4	236	1	0	0	0	0	0	0	0	1	5919	871	31	1		1	FKTN	9	108397407	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6568185	108397407	32816024	528	119705											
ZNF483	158399	broad.mit.edu	37	chr9	114303976	114303976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataatagaaaggtgcctcaGggatgatgatcatggcttga	12	5	2	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:114303976G>T	uc004bff.2	+	6	985	c.761G>T	c.(760-762)AGG>ATG	p.R254M	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AGGTGCCTCAGGGATGATGAT	0.383													T	114303976	G	T	114303976	3	4	236	1	0	0	0	0	1	0	0	0	17933	1000	35	5	779	5	ZNF483	9	114303976	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5906569	114303976	26909455	529	119706											
KIAA1958	158405	broad.mit.edu	37	chr9	115421888	115421888	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtggtcaagtacaacAgccagtacctgaacatgcgg	10	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:115421888A>C	uc004bgf.1	+	4	1865	c.1690A>C	c.(1690-1692)AGC>CGC	p.S564R	KIAA1958_uc011lwx.1_Missense_Mutation_p.S592R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	564										skin(1)	1						CAAGTACAACAGCCAGTACCT	0.562													C	115421888	A	C	115421888	3	2	236	1	0	0	0	0	1	0	0	0	8264	188	7	5	1700	5	KIAA1958	9	115421888	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1117912	115421888	25791543	530	119707											
ZNF618	114991	broad.mit.edu	37	chr9	116811701	116811701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttgctggtgcatgagCgctatgagcagatctgcgag	14	9	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:116811701C>T	uc004bid.2	+	15	2218	c.2119C>T	c.(2119-2121)CGC>TGC	p.R707C	ZNF618_uc004bic.2_Missense_Mutation_p.R614C|ZNF618_uc011lxi.1_Missense_Mutation_p.R674C|ZNF618_uc011lxj.1_Missense_Mutation_p.R675C|ZNF618_uc010mvb.2_Missense_Mutation_p.R297C	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTGCATGAGCGCTATGAGCA	0.607													T	116811701	C	T	116811701	3	4	236	1	0	0	0	0	1	0	0	0	18039	768	27	1	1894	1	ZNF618	9	116811701	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1389813	116811701	24401730	531	119708											
C5	727	broad.mit.edu	37	chr9	123753470	123753470	+	Frame_Shift_Del	DEL	T	T	-													atggcatttgttaatttaccTtttacactcaaaatcctttt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:123753470delT	uc004bkv.2	-	23	2970	c.2940delA	c.(2938-2940)AAAfs	p.K980fs		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	980					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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTAATTTACCTTTTACACTCA	0.348													-	123753470	T	-	123753470	7	5	236	1	0	1	0	1	0	0	0	0	2280	1623	56	0	2166	0	C5	9	123753470	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	6941769	123753470	17459961	532	119709											
CRB2	286204	broad.mit.edu	37	chr9	126136078	126136078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggggtgggaaggcccgCgctgcgaagcccacgtcgac	17	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:126136078C>T	uc004bnx.1	+	10	3360	c.3268C>T	c.(3268-3270)CGC>TGC	p.R1090C	CRB2_uc004bnw.1_Missense_Mutation_p.R1090C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	1090	Extracellular (Potential).|EGF-like 12.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GGAAGGCCCGCGCTGCGAAGC	0.756													T	126136078	C	T	126136078	3	4	236	1	0	0	0	0	1	0	0	0	3849	768	27	1	3306	1	CRB2	9	126136078	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2382608	126136078	15077353	533	119710											
RABEPK	10244	broad.mit.edu	37	chr9	127995981	127995981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatagaagagcagcattggAccttgcttaaatttgatact	8	7	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:127995981A>G	uc004bpi.2	+	9	1014	c.841A>G	c.(841-843)ACC>GCC	p.T281A	RABEPK_uc004bpj.2_Missense_Mutation_p.T230A|RABEPK_uc004bpk.2_Missense_Mutation_p.T281A|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.T281A	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	281	Kelch 5.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						GCAGCATTGGACCTTGCTTAA	0.348													G	127995981	A	G	127995981	3	3	236	1	0	0	0	0	1	0	0	0	12963	275	10	3	867	3	RABEPK	9	127995981	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1859903	127995981	13217450	534	119711											
MAPKAP1	79109	broad.mit.edu	37	chr9	128322031	128322031	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatccagcggggggaaatcGgtgtccacctccccatcatc	11	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:128322031G>T	uc004bpv.2	-	6	1062	c.729C>A	c.(727-729)ACC>ACA	p.T243T	MAPKAP1_uc011lzt.1_Silent_p.T46T|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.T46T|MAPKAP1_uc011lzv.1_Intron|MAPKAP1_uc004bpw.2_Silent_p.T51T|MAPKAP1_uc004bpx.2_Silent_p.T51T|MAPKAP1_uc004bpy.2_Silent_p.T243T|MAPKAP1_uc004bpz.2_Silent_p.T243T|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.T46T|MAPKAP1_uc004bqa.2_Silent_p.T243T|MAPKAP1_uc010mxc.1_Silent_p.T115T	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	243					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			ovary(2)|lung(2)	4						GGGGGAAATCGGTGTCCACCT	0.488													T	128322031	G	T	128322031	2	4	236	1	0	0	0	0	0	0	0	1	9288	1103	39	5		5	MAPKAP1	9	128322031	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	326050	128322031	12891400	535	119712											
GOLGA2	2801	broad.mit.edu	37	chr9	131036199	131036199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttttattttcttcttcTttttcgctcctgtaggaaca	4	9	3	0	rs142168936		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:131036199T>C	uc011maw.1	-	2	150	c.137A>G	c.(136-138)AAG>AGG	p.K46R	GOLGA2_uc010mxw.2_Missense_Mutation_p.K34R|GOLGA2_uc004bul.1_5'UTR|C9orf119_uc010mxx.1_5'Flank|C9orf119_uc004bup.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	46	Poly-Lys.|Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						TTTCTTCTTCTTTTTCGCTCC	0.428													C	131036199	T	C	131036199	3	2	236	1	0	0	0	0	1	0	0	0	6552	1609	56	3	2971	3	GOLGA2	9	131036199	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2714168	131036199	10177232	536	119713											
CERCAM	51148	broad.mit.edu	37	chr9	131185155	131185155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtccccaggtgtgccaCggaccacaatgtggacaaca	10	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:131185155C>T	uc004buz.3	+	2	604	c.206C>T	c.(205-207)ACG>ATG	p.T69M	CERCAM_uc004buy.1_Translation_Start_Site|CERCAM_uc010mxz.2_Translation_Start_Site|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	69					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						AGGTGTGCCACGGACCACAAT	0.602													T	131185155	C	T	131185155	3	4	236	1	0	0	0	0	1	0	0	0	3266	536	19	1	212	1	CERCAM	9	131185155	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	148956	131185155	10028276	537	119714											
TBC1D13	54662	broad.mit.edu	37	chr9	131568256	131568256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcttcgccgatgacaAccgctttgacttcctcctcc	5	19	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:131568256A>G	uc010myj.2	+	10	1160	c.1037A>G	c.(1036-1038)AAC>AGC	p.N346S	TBC1D13_uc010myk.2_Missense_Mutation_p.N221S|TBC1D13_uc010myl.2_Missense_Mutation_p.N165S	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	346						intracellular	Rab GTPase activator activity				0						GCCGATGACAACCGCTTTGAC	0.592													G	131568256	A	G	131568256	3	3	236	1	0	0	0	0	1	0	0	0	15599	43	2	3	1075	3	TBC1D13	9	131568256	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	383101	131568256	9645175	538	119715											
BAT2L1	84726	broad.mit.edu	37	chr9	134360135	134360135	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatccagagggccatcggTctctccccaatgtccttccc	7	18	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:134360135T>C	uc004can.3	+	23	5578	c.5523T>C	c.(5521-5523)GGT>GGC	p.G1841G	BAT2L1_uc004cao.3_Silent_p.G1198G|BAT2L1_uc004cap.3_5'Flank|SNORD62A_uc004caq.2_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1841							protein binding				0						GGGCCATCGGTCTCTCCCCAA	0.572													C	134360135	T	C	134360135	2	2	236	1	0	0	0	0	0	0	0	1	1320	1654	58	3		3	BAT2L1	9	134360135	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2791879	134360135	6853296	539	119716											
GTF3C4	9329	broad.mit.edu	37	chr9	135553481	135553481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgaggggaaggctttaCcaccaatgagaggattcaag	12	9	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:135553481C>T	uc010mzv.2	+	2	733	c.475C>T	c.(475-477)CCA>TCA	p.P159S	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	159					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAAGGCTTTACCACCAATGAG	0.542													T	135553481	C	T	135553481	3	4	236	1	0	0	0	0	1	0	0	0	6875	507	18	4	481	4	GTF3C4	9	135553481	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1193346	135553481	5659950	540	119717											
RPL7A	6130	broad.mit.edu	37	chr9	136217870	136217870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttagggaagacaaaggcGctttggctaagctggtggaa	14	6	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:136217870G>A	uc004cde.1	+	7	670	c.640G>A	c.(640-642)GCT>ACT	p.A214T	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Missense_Mutation_p.A38T	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	214					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				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AGACAAAGGCGCTTTGGCTAA	0.413													A	136217870	G	A	136217870	3	1	236	1	0	0	0	0	1	0	0	0	13600	1087	38	1	666	1	RPL7A	9	136217870	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	664389	136217870	4995561	541	119718											
ADAMTS13	11093	broad.mit.edu	37	chr9	136324225	136324225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcaggccagcctgcggGgccagtactggaccctccaa	13	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:136324225G>A	uc004cdv.3	+	29	4651	c.4207G>A	c.(4207-4209)GGC>AGC	p.G1403S	ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.G1347S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.G1316S|ADAMTS13_uc004cdw.3_Missense_Mutation_p.G1347S|ADAMTS13_uc004cdx.3_Missense_Mutation_p.G1316S|ADAMTS13_uc004cdz.3_Missense_Mutation_p.G1073S|ADAMTS13_uc004ceb.3_Missense_Mutation_p.G199S|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1403	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)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAGCCTGCGGGGCCAGTACTG	0.587													A	136324225	G	A	136324225	3	1	236	1	0	0	0	0	1	0	0	0	258	1232	43	4	4321	4	ADAMTS13	9	136324225	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	106355	136324225	4889206	542	119719											
VAV2	7410	broad.mit.edu	37	chr9	136677299	136677299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcccctccatcctcacaCgggacgcagtcgtagatgtc	9	16	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:136677299C>T	uc004ces.2	-	5	535	c.489G>A	c.(487-489)CCG>CCA	p.P163P	VAV2_uc004cer.2_Silent_p.P163P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	163					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			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CATCCTCACACGGGACGCAGT	0.672													T	136677299	C	T	136677299	2	4	236	1	0	0	0	0	0	0	0	1	17129	523	19	1		1	VAV2	9	136677299	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	353074	136677299	4536132	543	119720											
C9orf86	55684	broad.mit.edu	37	chr9	139726193	139726193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttcaattacattctccGggagcttccaaaagtgccca	7	13	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:139726193G>A	uc004cji.1	+	6	747	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	C9orf86_uc004cjm.2_Missense_Mutation_p.R160Q|C9orf86_uc004cjh.2_Missense_Mutation_p.R160Q|C9orf86_uc004cjj.1_Missense_Mutation_p.R160Q|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R160Q|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R45Q	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	160	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		TACATTCTCCGGGAGCTTCCA	0.617													A	139726193	G	A	139726193	3	1	236	1	0	0	0	0	1	0	0	0	2502	1116	39	1	501	1	C9orf86	9	139726193	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3048894	139726193	1487238	544	119721											
NOXA1	10811	broad.mit.edu	37	chr9	140328769	140328769	+	Frame_Shift_Del	DEL	C	C	-													cggccctcggatgtcaggagCccccggccgcctgccccgat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:140328768_140328768GC>G	uc004cmu.3	+	13	1543	c.1408_1408GC>G	c.(1408-1410)gccfs	p.A470fs	NOXA1_uc004cmv.3_Frame_Shift_Del_p.A463fs|NOXA1_uc010nch.3_Frame_Shift_Del_p.A414fs	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	463			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GATGTCAGGAGCCCCCGGCCG	0.622													-	140328769	C	-	140328769	7	5	236	1	0	1	0	1	0	0	0	0	10560	739	26	0	1463	0	NOXA1	9	140328769	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	602576	140328769	884662	545	119722											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	236	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08		890939	134643808	546	119723											
GTPBP4	23560	broad.mit.edu	37	chr10	1058424	1058426	+	In_Frame_Del	DEL	AAG	AAG	-													gaaattggaagaattagaaaAagaagaagagctgagaacag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:1058424_1058426delAAG	uc001ift.2	+	14	1435_1437	c.1364_1366delAAG	c.(1363-1368)AAAGAA>AAA	p.E458del	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_In_Frame_Del_p.E342del|GTPBP4_uc010qae.1_In_Frame_Del_p.E411del	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	458					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			ovary(1)|skin(1)	2		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)		GAATTAGAAAAAGAAGAAGAGCT	0.414													-	1058426	AAG	-	1058424	7	5	236	1	0	1	0	1	0	0	0	0	6882	14	1	0	1418	0	GTPBP4	10	1058424	In_Frame_Del	DEL	AAG	TCGA-F1-6874-01A-11D-1882-08	167485	1058424	134476323	547	119724											
ADARB2	105	broad.mit.edu	37	chr10	1279636	1279636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaagcatggtctcttacGgtctgtggtgatctcgtagg	13	7	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:1279636G>A	uc009xhq.2	-	6	1887	c.1513C>T	c.(1513-1515)CTG>TTG	p.L505L		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	505	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGTCTCTTACGGTCTGTGGTG	0.592													A	1279636	G	A	1279636	2	1	236	1	0	0	0	0	0	0	0	1	283	1130	39	1		1	ADARB2	10	1279636	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	221212	1279636	134255111	548	119725											
KLF6	1316	broad.mit.edu	37	chr10	3823983	3823983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccccgaagtcccgctgcGcaccttccctggcgagggca	11	18	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:3823983G>A	uc001iha.2	-	2	793	c.526C>T	c.(526-528)CGC>TGC	p.R176C	KLF6_uc010qaj.1_Missense_Mutation_p.R176C|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Missense_Mutation_p.R176C|KLF6_uc001ihb.2_Missense_Mutation_p.R176C	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	176					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		GTCCCGCTGCGCACCTTCCCT	0.647											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3823983	G	A	3823983	3	1	236	1	0	0	0	0	1	0	0	0	8350	1087	38	1	337	1	KLF6	10	3823983	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2544347	3823983	131710764	549	119726											
NET1	10276	broad.mit.edu	37	chr10	5496975	5496975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaatccgagtgccagtAttacatcgacaagctggagt	12	8	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:5496975A>G	uc001iia.2	+	10	1229	c.1091A>G	c.(1090-1092)TAT>TGT	p.Y364C	NET1_uc010qar.1_Missense_Mutation_p.Y183C|NET1_uc001iib.2_Missense_Mutation_p.Y310C|NET1_uc010qas.1_Missense_Mutation_p.Y183C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	364					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(1)	1						GAGTGCCAGTATTACATCGAC	0.458													G	5496975	A	G	5496975	3	3	236	1	0	0	0	0	1	0	0	0	10338	449	16	3	1226	3	NET1	10	5496975	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1672992	5496975	130037772	550	119727											
ITIH5	80760	broad.mit.edu	37	chr10	7618918	7618918	+	Frame_Shift_Del	DEL	G	G	-													gtggcctgcaccactgagctGgggggataatcgatgcggat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:7618917_7618917TG>T	uc021pmv.1	-	9	1583	c.1477_1477CA>A	c.(1477-1479)agcfs	p.S493fs	ITIH5_uc021pmu.1_Frame_Shift_Del_p.S279fs|ITIH5_uc001ijr.2_Frame_Shift_Del_p.S493fs	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	493					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P492P(1)		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						ACCACTGAGCTGGGGGGATAA	0.587													-	7618918	G	-	7618918	7	5	236	1	0	1	0	1	0	0	0	0	7907	1335	47	0	1495	0	ITIH5	10	7618918	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	2121943	7618918	127915829	551	119728											
ITIH5	80760	broad.mit.edu	37	chr10	7708805	7708805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgcgcctcttcctgCgaccccacacacagggacag	9	18	2	0	rs149614899		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:7708805C>T	uc001ijq.2	-	1	130	c.51G>A	c.(49-51)TCG>TCA	p.S17S	ITIH5_uc001ijr.1_Silent_p.S17S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	17					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CCTCTTCCTGCGACCCCACAC	0.597													T	7708805	C	T	7708805	2	4	236	1	0	0	0	0	0	0	0	1	7907	755	27	1		1	ITIH5	10	7708805	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	89887	7708805	127825942	552	119729											
USP6NL	9712	broad.mit.edu	37	chr10	11504926	11504926	+	Frame_Shift_Del	DEL	G	G	-													gtagaaccatgaggtctcctGgaaggattcagttgagtccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:11504926delG	uc001ikt.3	-	15	2322	c.2001delC	c.(1999-2001)TCCfs	p.S667fs	USP6NL_uc001iks.1_Frame_Shift_Del_p.S684fs	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	667						intracellular	Rab GTPase activator activity				0						GAGGTCTCCTGGAAGGATTCA	0.527													-	11504926	G	-	11504926	7	5	236	1	0	1	0	1	0	0	0	0	17084	1335	47	0	489	0	USP6NL	10	11504926	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	3796121	11504926	124029821	553	119730											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	236	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	2191526	13696452	121838295	554	119731											
DCLRE1C	64421	broad.mit.edu	37	chr10	14961737	14961737	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaccatttttcttacCtgagtctcggtgaactgttc	8	12	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:14961737C>A	uc001inn.2	-	13	1241	c.1156G>T	c.(1156-1158)GAG>TAG	p.E386*	DCLRE1C_uc010qbx.1_Missense_Mutation_p.G386W|DCLRE1C_uc001ink.2_Nonsense_Mutation_p.E39*|DCLRE1C_uc001inl.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc009xji.2_Nonsense_Mutation_p.E271*|DCLRE1C_uc001inm.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001ino.2_Nonsense_Mutation_p.E271*|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001inq.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001inr.2_Nonsense_Mutation_p.E271*	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	386					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						TTTTTCTTACCTGAGTCTCGG	0.517								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					A	14961737	C	A	14961737	4	1	236	1	0	0	0	0	0	1	0	0	4296	695	24	5	930	5	DCLRE1C	10	14961737	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1265285	14961737	120573010	555	119732											
CUBN	8029	broad.mit.edu	37	chr10	16967768	16967768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcatgcaaatatccacCgcagccttcccacaaagaaa	6	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:16967768C>T	uc001ioo.2	-	42	6329	c.6277G>A	c.(6277-6279)GGT>AGT	p.G2093S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2093	CUB 15.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATATCCACCGCAGCCTTCC	0.458													T	16967768	C	T	16967768	3	4	236	1	0	0	0	0	1	0	0	0	4051	652	23	1	4698	1	CUBN	10	16967768	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2006031	16967768	118566979	556	119733											
DNAJC1	64215	broad.mit.edu	37	chr10	22208767	22208767	+	Frame_Shift_Del	DEL	T	T	-													ttatatgctctcacctttcaTttttttctgaagcaccgagt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:22208766_22208766AT>A	uc001irc.3	-	4	917	c.630_630AT>T	c.(628-630)aatfs	p.N210fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	210					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)				CTCACCTTTCATTTTTTTCTG	0.294													-	22208767	T	-	22208767	7	5	236	1	0	1	0	1	0	0	0	0	4628	1493	52	0	1067	0	DNAJC1	10	22208767	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	5240999	22208767	113325980	557	119734											
ARMC3	219681	broad.mit.edu	37	chr10	23287247	23287247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcatcagcccactgcGttctgcaaacacagtcgtgc	8	15	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:23287247G>A	uc001irm.3	+	11	1429	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H	ARMC3_uc010qcv.1_Missense_Mutation_p.R449H|ARMC3_uc010qcw.1_Missense_Mutation_p.R186H	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	449	ARM 11.						binding				0						AGCCCACTGCGTTCTGCAAAC	0.517													A	23287247	G	A	23287247	3	1	236	1	0	0	0	0	1	0	0	0	952	1145	40	1	1384	1	ARMC3	10	23287247	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1078480	23287247	112247500	558	119735											
YME1L1	10730	broad.mit.edu	37	chr10	27403517	27403517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttagtttccctgtatcaCtgtaggtcataactccaagc	7	11	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:27403517C>T	uc001iti.2	-	19	2293	c.2111G>A	c.(2110-2112)AGT>AAT	p.S704N	YME1L1_uc001itj.2_Missense_Mutation_p.S647N|YME1L1_uc010qdl.1_Missense_Mutation_p.S614N|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	704					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						CCCTGTATCACTGTAGGTCAT	0.333													T	27403517	C	T	27403517	3	4	236	1	0	0	0	0	1	0	0	0	17484	565	20	4	218	4	YME1L1	10	27403517	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4116270	27403517	108131230	559	119736											
ITGB1	3688	broad.mit.edu	37	chr10	33200585	33200585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcacacacacgacacttGcaaacaccatttcctgcaat	3	16	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:33200585G>A	uc001iws.3	-	13	1858	c.1722C>T	c.(1720-1722)TGC>TGT	p.C574C	ITGB1_uc001iwp.3_Silent_p.C574C|ITGB1_uc001iwq.3_Silent_p.C574C|ITGB1_uc001iwr.3_Silent_p.C574C|ITGB1_uc001iwt.3_Silent_p.C574C|ITGB1_uc001iwu.1_Silent_p.C574C	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	574	Extracellular (Potential).|III.|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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACGACACTTGCAAACACCAT	0.398													A	33200585	G	A	33200585	2	1	236	1	0	0	0	0	0	0	0	1	7890	1311	46	2		2	ITGB1	10	33200585	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5797068	33200585	102334162	560	119737											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43651044	43651044	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggggtcattccctttgaAagttttaccttaatgaaagt	8	6	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:43651044A>G	uc001jan.2	+	2	782	c.447A>G	c.(445-447)GAA>GAG	p.E149E	CSGALNACT2_uc001jam.1_Silent_p.E149E	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	149	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TTCCCTTTGAAAGTTTTACCT	0.403													G	43651044	A	G	43651044	2	3	236	1	0	0	0	0	0	0	0	1	3939	11	1	3		3	CSGALNACT2	10	43651044	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	10450459	43651044	91883703	561	119738											
ANUBL1	93550	broad.mit.edu	37	chr10	46121925	46121925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctactgattccccattcAgcactcctgcaacatgcttg	5	15	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:46121925A>G	uc001jcp.3	-	7	1588	c.1346T>C	c.(1345-1347)CTG>CCG	p.L449P	ANUBL1_uc001jcl.3_5'UTR|ANUBL1_uc001jcm.3_Missense_Mutation_p.L449P|ANUBL1_uc009xmu.2_Missense_Mutation_p.L375P|ANUBL1_uc001jcn.3_Missense_Mutation_p.L375P|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	449							zinc ion binding				0						TTCCCCATTCAGCACTCCTGC	0.463													G	46121925	A	G	46121925	3	3	236	1	0	0	0	0	1	0	0	0	713	188	7	3	853	3	ANUBL1	10	46121925	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2470881	46121925	89412822	562	119739											
ERCC6	2074	broad.mit.edu	37	chr10	50740632	50740632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactccttctccacgtcaaCgagctgggaggcacggctgg	12	13	2	0	rs116275562	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:50740632C>T	uc001jhs.3	-	2	533	c.379G>A	c.(379-381)GTT>ATT	p.V127I	PGBD3_uc009xoe.2_Missense_Mutation_p.V127I|PGBD3_uc001jhu.2_Missense_Mutation_p.V127I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	127					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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TCCACGTCAACGAGCTGGGAG	0.552								Direct_reversal_of_damage|NER					T	50740632	C	T	50740632	3	4	236	1	0	0	0	0	1	0	0	0	5217	536	19	1	4182	1	ERCC6	10	50740632	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4618707	50740632	84794115	563	119740											
PCDH15	65217	broad.mit.edu	37	chr10	55587205	55587205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacctggcggaggcggcgGcggcggcgggggcgctgcca	22	14	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:55587205G>A	uc001jju.1	-	32	4710	c.4315C>T	c.(4315-4317)CCG>TCG	p.P1439S	PCDH15_uc010qhq.1_Missense_Mutation_p.P1444S|PCDH15_uc010qhr.1_Missense_Mutation_p.P1439S|PCDH15_uc010qhs.1_Missense_Mutation_p.P1451S|PCDH15_uc010qht.1_Missense_Mutation_p.P1446S|PCDH15_uc010qhu.1_Missense_Mutation_p.P1439S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1436S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1399S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1368S|PCDH15_uc010qhy.1_Missense_Mutation_p.P1444S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1439S|PCDH15_uc010qia.1_Missense_Mutation_p.P1417S|PCDH15_uc010qib.1_Missense_Mutation_p.P1414S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1439	Poly-Pro.|Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggcggcggcggcggcggg	0.438										HNSCC(58;0.16)			A	55587205	G	A	55587205	3	1	236	1	0	0	0	0	1	0	0	0	11511	1203	42	2	3179	2	PCDH15	10	55587205	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4846573	55587205	79947542	564	119741											
ARID5B	84159	broad.mit.edu	37	chr10	63851103	63851103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattacattgccaactgcacCgtgaaggtggaccagctggg	13	10	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:63851103C>T	uc001jlt.1	+	10	1907	c.1881C>T	c.(1879-1881)ACC>ACT	p.T627T		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	627					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			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAACTGCACCGTGAAGGTGG	0.557													T	63851103	C	T	63851103	2	4	236	1	0	0	0	0	0	0	0	1	922	639	23	1		1	ARID5B	10	63851103	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	8263898	63851103	71683644	565	119742											
CTNNA3	29119	broad.mit.edu	37	chr10	67680208	67680209	+	Frame_Shift_Ins	INS	-	-	T													tctctcttttaatcaagggtINSttttttgcaggagccttcat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:67680207_67680208G>GT	uc009xpn.1	-	17	2691_2692	c.2568_2569C>AC	c.(2566-2571)aaacccfs	p.K856fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K856fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	856					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(3)|p.K855E(1)		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						TTAATCAAGGGTTTTTTTGCAG	0.465													T	67680209	-	T	67680208	7	5	236	1	0	1	1	0	0	0	0	0	4014	1722	60	0	123	0	CTNNA3	10	67680208	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	3829105	67680208	67854539	566	119743											
LRRTM3	347731	broad.mit.edu	37	chr10	68687773	68687773	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtggcaaaagtactacaGagaggtttgatctggccagg	13	7	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:68687773G>A	uc001jmz.1	+	2	1649	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.E367K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	367	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AAGTACTACAGAGAGGTTTGA	0.527													A	68687773	G	A	68687773	3	1	236	1	0	0	0	0	1	0	0	0	9041	943	33	4	1105	4	LRRTM3	10	68687773	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1007565	68687773	66846974	567	119744											
KIAA1274	27143	broad.mit.edu	37	chr10	72299505	72299506	+	Frame_Shift_Ins	INS	-	-	C													cccatgccggacttctgtgcINScccccgagaggaggtgaggg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:72299504_72299505G>GC	uc001jrd.4	+	14	2175_2176	c.1894_1895G>GC	c.(1894-1896)gccfs	p.A632fs	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	632										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GGACTTCTGTGCCCCCCGAGAG	0.649													C	72299506	-	C	72299505	7	5	236	1	0	1	1	0	0	0	0	0	8220	739	26	0	1949	0	KIAA1274	10	72299505	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	3611732	72299505	63235242	568	119745											
PLAU	5328	broad.mit.edu	37	chr10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G													gccatctacaggaggcaccgINSggggggctctgtcacctacg					rs145070893	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	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)	CAGGAGGCACCGGGGGGGCTCT	0.589													G	75673439	-	G	75673438	7	5	236	1	0	1	1	0	0	0	0	0	12022	1116	39	0	662	0	PLAU	10	75673438	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	3373933	75673438	59861309	569	119746											
GRID1	2894	broad.mit.edu	37	chr10	87487639	87487639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagctccccgatcatcccGttccaggaggtgttatggag	12	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:87487639G>A	uc001kdl.1	-	10	1607	c.1506C>T	c.(1504-1506)AAC>AAT	p.N502N	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.N73N	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	502	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CGATCATCCCGTTCCAGGAGG	0.537										Multiple Myeloma(13;0.14)			A	87487639	G	A	87487639	2	1	236	1	0	0	0	0	0	0	0	1	6771	1136	40	1		1	GRID1	10	87487639	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	11814201	87487639	48047108	570	119747											
AGAP11	119385	broad.mit.edu	37	chr10	88768309	88768309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctgagaaagggagtgaCccagacaaagggaggaaagc	14	7	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:88768309C>T	uc001kee.2	+	12	1504	c.300C>T	c.(298-300)GAC>GAT	p.D100D	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	100					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						AAGGGAGTGACCCAGACAAAG	0.542													T	88768309	C	T	88768309	2	4	236	1	0	0	0	0	0	0	0	1	367	506	18	4		4	AGAP11	10	88768309	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1280670	88768309	46766438	571	119748											
CYP26C1	340665	broad.mit.edu	37	chr10	94828412	94828412	+	Frame_Shift_Del	DEL	C	C	-													gggctgcggctctttttccaCcccctcacgccttcggttgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:94828412delC	uc010qns.1	+	6	1527	c.1527delC	c.(1525-1527)CACfs	p.H509fs	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	509					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)	1		Colorectal(252;0.122)				TCTTTTTCCACCCCCTCACGC	0.677													-	94828412	C	-	94828412	7	5	236	1	0	1	0	1	0	0	0	0	4157	506	18	0	1549	0	CYP26C1	10	94828412	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	6060103	94828412	40706335	572	119749											
GPR120	338557	broad.mit.edu	37	chr10	95347049	95347049	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccagatccgcgtgtccCagcaggacttccggctcttc	10	17	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:95347049C>T	uc010qnt.1	+	4	873	c.817C>T	c.(817-819)CAG>TAG	p.Q273*	GPR120_uc010qnu.1_Nonsense_Mutation_p.Q257*	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	273	Cytoplasmic (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				CCGCGTGTCCCAGCAGGACTT	0.557													T	95347049	C	T	95347049	4	4	236	1	0	0	0	0	0	1	0	0	6636	595	21	4	831	4	GPR120	10	95347049	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	518637	95347049	40187698	573	119750											
PDE6C	5146	broad.mit.edu	37	chr10	95422382	95422382	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggatttattgattttgtTtgtacttttgtatataaggt	9	1	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:95422382T>C	uc001kiu.3	+	20	2487	c.2349T>C	c.(2347-2349)GTT>GTC	p.V783V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	783					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				TTGATTTTGTTTGTACTTTTG	0.274													C	95422382	T	C	95422382	2	2	236	1	0	0	0	0	0	0	0	1	11647	1828	64	3		3	PDE6C	10	95422382	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	75333	95422382	40112365	574	119751											
PLCE1	51196	broad.mit.edu	37	chr10	95987095	95987095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacatggctgatcctcacGgcaggctccatggaggagaa	14	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:95987095G>A	uc001kjk.2	+	5	2476	c.1842G>A	c.(1840-1842)ACG>ACA	p.T614T	PLCE1_uc010qnx.1_Silent_p.T614T|PLCE1_uc001kjm.2_Silent_p.T306T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	614	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			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGATCCTCACGGCAGGCTCCA	0.478													A	95987095	G	A	95987095	2	1	236	1	0	0	0	0	0	0	0	1	12034	1103	39	1		1	PLCE1	10	95987095	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	564713	95987095	39547652	575	119752											
CYP2C19	1557	broad.mit.edu	37	chr10	96535263	96535263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtgttcaagaggaagccCgctgccttgtggaggagttg	15	9	1	1	rs142974781		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:96535263C>T	uc010qnz.1	+	3	448	c.448C>T	c.(448-450)CGC>TGC	p.R150C	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R128C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	150					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			ovary(4)|central_nervous_system(1)|skin(1)	6		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)	AGAGGAAGCCCGCTGCCTTGT	0.512													T	96535263	C	T	96535263	3	4	236	1	0	0	0	0	1	0	0	0	4166	652	23	1	458	1	CYP2C19	10	96535263	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	548168	96535263	38999484	576	119753											
ENTPD7	57089	broad.mit.edu	37	chr10	101439208	101439208	+	Frame_Shift_Del	DEL	A	A	-													gcaacagccaaccagtggttAaaaaaatcaagccaggtact							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:101439208delA	uc001kqa.3	+	4	560	c.382delA	c.(382-384)AAAfs	p.K128fs	ENTPD7_uc009xwl.2_Frame_Shift_Del_p.K130fs	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	128	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACCAGTGGTTAAAAAAATCAA	0.413													-	101439208	A	-	101439208	7	5	236	1	0	1	0	1	0	0	0	0	5144	363	13	0	392	0	ENTPD7	10	101439208	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	4903945	101439208	34095539	577	119754											
C10orf2	56652	broad.mit.edu	37	chr10	102748185	102748185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggatccccttccaggAtggtcacagttgcctgcggg	14	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:102748185A>G	uc001ksf.2	+	1	893	c.218A>G	c.(217-219)GAT>GGT	p.D73G	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.D73G|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	73					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			ovary(1)	1		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)		CCCTTCCAGGATGGTCACAGT	0.537													G	102748185	A	G	102748185	3	3	236	1	0	0	0	0	1	0	0	0	1597	333	12	3	220	3	C10orf2	10	102748185	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1308977	102748185	32786562	578	119755											
PDZD7	79955	broad.mit.edu	37	chr10	102777873	102777873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctttctctatgtccaggCgagggtaagttttggccagg	12	9	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:102777873C>T	uc001kso.1	-	9	1720	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PDZD7_uc001ksn.2_Missense_Mutation_p.R502H	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	502						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TATGTCCAGGCGAGGGTAAGT	0.438													T	102777873	C	T	102777873	3	4	236	1	0	0	0	0	1	0	0	0	11704	768	27	1	56	1	PDZD7	10	102777873	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	29688	102777873	32756874	579	119756											
TMEM180	79847	broad.mit.edu	37	chr10	104235578	104235578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacaggccccgacgctccGccagggctgcttctacctgc	11	18	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:104235578G>A	uc001kvt.2	+	10	1610	c.1391G>A	c.(1390-1392)CGC>CAC	p.R464H	TMEM180_uc010qql.1_Missense_Mutation_p.R193H|TMEM180_uc010qqm.1_Intron	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	464						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGACGCTCCGCCAGGGCTGC	0.657													A	104235578	G	A	104235578	3	1	236	1	0	0	0	0	1	0	0	0	16096	1087	38	1	1421	1	TMEM180	10	104235578	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1457705	104235578	31299169	580	119757											
ACTR1A	10121	broad.mit.edu	37	chr10	104248876	104248876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctgccatgacacgaaCgtgcttgggtcggcccacac	12	15	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:104248876C>T	uc001kvv.2	-	3	241	c.133G>A	c.(133-135)GTT>ATT	p.V45I	ACTR1A_uc010qqn.1_Intron|ACTR1A_uc010qqo.1_5'UTR	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	45					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ATGACACGAACGTGCTTGGGT	0.443													T	104248876	C	T	104248876	3	4	236	1	0	0	0	0	1	0	0	0	209	536	19	1	1033	1	ACTR1A	10	104248876	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	13298	104248876	31285871	581	119758											
C10orf118	55088	broad.mit.edu	37	chr10	115917403	115917403	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttctgaacaaatgtctacGaagagctcctgatgcttctt	7	9	3	3	rs146089301		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:115917403G>A	uc001lbb.1	-	3	1321	c.669C>T	c.(667-669)TTC>TTT	p.F223F	C10orf118_uc001lbc.1_Silent_p.F223F|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	223	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AAATGTCTACGAAGAGCTCCT	0.284													A	115917403	G	A	115917403	2	1	236	1	0	0	0	0	0	0	0	1	1587	1049	37	1		1	C10orf118	10	115917403	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	11668527	115917403	19617344	582	119759											
TRUB1	142940	broad.mit.edu	37	chr10	116698094	116698094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgaaactgcaggaacgGtcgcagcaatggctgcgacc	12	12	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:116698094G>A	uc001lcd.2	+	1	143	c.82G>A	c.(82-84)GTC>ATC	p.V28I	TRUB1_uc010qsl.1_Intron	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	28					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TGCAGGAACGGTCGCAGCAAT	0.627													A	116698094	G	A	116698094	3	1	236	1	0	0	0	0	1	0	0	0	16599	1261	44	4	84	4	TRUB1	10	116698094	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	780691	116698094	18836653	583	119760											
MKI67	4288	broad.mit.edu	37	chr10	129900871	129900871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggaccgagtcttgtaatTtgtgttcctctttgttggtt	11	7	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:129900871T>C	uc001lke.2	-	13	9428	c.9233A>G	c.(9232-9234)AAA>AGA	p.K3078R	MKI67_uc001lkf.2_Missense_Mutation_p.K2718R|MKI67_uc009yav.1_Missense_Mutation_p.K2653R|MKI67_uc009yaw.1_Missense_Mutation_p.K2228R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3078					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				GTCTTGTAATTTGTGTTCCTC	0.398													C	129900871	T	C	129900871	3	2	236	1	0	0	0	0	1	0	0	0	9598	1841	64	3	549	3	MKI67	10	129900871	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	13202777	129900871	5633876	584	119761											
MKI67	4288	broad.mit.edu	37	chr10	129904162	129904162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggttgtggagatttgCaggatacttctgtgattttg	14	4	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:129904162C>T	uc001lke.2	-	13	6137	c.5942G>A	c.(5941-5943)TGC>TAC	p.C1981Y	MKI67_uc001lkf.2_Missense_Mutation_p.C1621Y|MKI67_uc009yav.1_Missense_Mutation_p.C1556Y|MKI67_uc009yaw.1_Missense_Mutation_p.C1131Y	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1981	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TGGAGATTTGCAGGATACTTC	0.483													T	129904162	C	T	129904162	3	4	236	1	0	0	0	0	1	0	0	0	9598	710	25	2	3840	2	MKI67	10	129904162	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3291	129904162	5630585	585	119762											
MKI67	4288	broad.mit.edu	37	chr10	129907312	129907312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaatattttccttatatGtctcaaaaggtctttctatt	3	7	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:129907312G>A	uc001lke.2	-	13	2987	c.2792C>T	c.(2791-2793)ACA>ATA	p.T931I	MKI67_uc001lkf.2_Missense_Mutation_p.T571I|MKI67_uc009yav.1_Missense_Mutation_p.T506I|MKI67_uc009yaw.1_Missense_Mutation_p.T81I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	931					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TTCCTTATATGTCTCAAAAGG	0.373													A	129907312	G	A	129907312	3	1	236	1	0	0	0	0	1	0	0	0	9598	1377	48	4	6990	4	MKI67	10	129907312	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3150	129907312	5627435	586	119763											
DPYSL4	10570	broad.mit.edu	37	chr10	134018422	134018423	+	Frame_Shift_Del	DEL	CT	CT	-													ggcggccgctccaacatcacCtctctctcctagacgcccag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:134018421_134018422CCT>C	uc009ybb.3	+	13	1860_1861	c.1706_1707CCT>C	c.(1705-1707)accfs	p.T569fs		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	569					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)		TCCAACATCACCTCTCTCTCCT	0.658													-	134018423	CT	-	134018422	7	5	236	1	0	1	0	1	0	0	0	0	4749	668	24	0	1761	0	DPYSL4	10	134018422	Frame_Shift_Del	DEL	CT	TCGA-F1-6874-01A-11D-1882-08	4111110	134018422	1516325	587	119764											
MTG1	92170	broad.mit.edu	37	chr10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-													cacttagaaggagaaggcctAaaaaatgtcatttttaccaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408													-	135211971	A	-	135211971	7	5	236	1	0	1	0	1	0	0	0	0	9926	349	13	0	329	0	MTG1	10	135211971	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	1193549	135211971	322776	588	119765											
CYP2E1	1571	broad.mit.edu	37	chr10	135352460	135352460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaactctgtgtcattcccCgctcatgagtgtgtggagga	11	10	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:135352460C>T	uc001lnj.1	+	9	1507	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	CYP2E1_uc001lnk.1_Missense_Mutation_p.R355C|CYP2E1_uc009ybl.1_Missense_Mutation_p.R293C|CYP2E1_uc009ybm.1_Missense_Mutation_p.R146C|CYP2E1_uc001lnl.1_Intron	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	492					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			central_nervous_system(3)	3		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)	TGTCATTCCCCGCTCATGAGT	0.453									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	135352460	C	T	135352460	3	4	236	1	0	0	0	0	1	0	0	0	4170	652	23	1	1508	1	CYP2E1	10	135352460	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	140489	135352460	182287	589	119766											
IFITM5	387733	broad.mit.edu	37	chr11	299343	299343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggaagccgaggcaacAcagattcaggtagagggtgc	15	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:299343A>G	uc001low.1	-	1	184	c.148T>C	c.(148-150)TGT>CGT	p.C50R		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	50	Helical; (Potential).				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane					0		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGAGGCAACACAGATTCAGG	0.657													G	299343	A	G	299343	3	3	236	1	0	0	0	0	1	0	0	0	7529	159	6	3	258	3	IFITM5	11	299343	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08		299343	134707173	590	119767											
CTSD	1509	broad.mit.edu	37	chr11	1780837	1780837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgaagcactgggggggCgtcccgatgccaatctcccc	13	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:1780837C>T	uc001luc.1	-	3	394	c.261G>A	c.(259-261)ACG>ACA	p.T87T	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	87					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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)	ACTGGGGGGGCGTCCCGATGC	0.647													T	1780837	C	T	1780837	2	4	236	1	0	0	0	0	0	0	0	1	4032	755	27	1		1	CTSD	11	1780837	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1481494	1780837	133225679	591	119768											
OSBPL5	114879	broad.mit.edu	37	chr11	3122896	3122896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtccttccggttgctgaCgtggaaggcagacacgggcg	16	12	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3122896C>T	uc001lxk.2	-	13	1617	c.1459G>A	c.(1459-1461)GTC>ATC	p.V487I	OSBPL5_uc010qxq.1_Missense_Mutation_p.V398I|OSBPL5_uc009ydw.2_Missense_Mutation_p.V419I|OSBPL5_uc001lxl.2_Missense_Mutation_p.V419I|OSBPL5_uc009ydx.2_Missense_Mutation_p.V511I	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	487					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		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)		CGGTTGCTGACGTGGAAGGCA	0.637													T	3122896	C	T	3122896	3	4	236	1	0	0	0	0	1	0	0	0	11280	536	19	1	1220	1	OSBPL5	11	3122896	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1342059	3122896	131883620	592	119769											
MRGPRE	116534	broad.mit.edu	37	chr11	3249856	3249856	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtccaggaggtagatggcGaaggggtttctgtagacatt	15	6	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3249856G>A	uc001lxq.3	-	2	481	c.171C>T	c.(169-171)TTC>TTT	p.F57F		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	57	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGATGGCGAAGGGGTTTC	0.632													A	3249856	G	A	3249856	2	1	236	1	0	0	0	0	0	0	0	1	9764	1049	37	1		1	MRGPRE	11	3249856	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	126960	3249856	131756660	593	119770											
ART1	417	broad.mit.edu	37	chr11	3681308	3681308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcacggcctgcgcttcCggccagcagggccccgggcc	16	17	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3681308C>T	uc001lye.1	+	3	660	c.559C>T	c.(559-561)CGG>TGG	p.R187W	ART1_uc009yeb.1_Missense_Mutation_p.R187W	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	187					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTGCGCTTCCGGCCAGCAGG	0.672													T	3681308	C	T	3681308	3	4	236	1	0	0	0	0	1	0	0	0	997	643	23	1	565	1	ART1	11	3681308	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	431452	3681308	131325208	594	119771											
NUP98	4928	broad.mit.edu	37	chr11	3697574	3697574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgcagactcagcaccaCgcgcagcaggttggctacac	11	13	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3697574C>T	uc001lyh.2	-	33	5509	c.5218G>A	c.(5218-5220)GTG>ATG	p.V1740M	NUP98_uc001lyi.2_Missense_Mutation_p.V1666M|NUP98_uc001lyg.2_Missense_Mutation_p.V705M	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1757					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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		CTCAGCACCACGCGCAGCAGG	0.572			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								T	3697574	C	T	3697574	3	4	236	1	0	0	0	0	1	0	0	0	10773	536	19	1	188	1	NUP98	11	3697574	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	16266	3697574	131308942	595	119772											
NUP98	4928	broad.mit.edu	37	chr11	3797187	3797188	+	Frame_Shift_Ins	INS	-	-	A													gggagccagatgtgctgccaINSaaaggattagaggtggtatt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3797186_3797187C>CA	uc001lyh.3	-	4	841_842	c.420_421G>TG	c.(418-423)tttggcfs	p.F140fs	NUP98_uc001lyi.3_Frame_Shift_Ins_p.F140fs|NUP98_uc001lyj.2_Frame_Shift_Ins_p.F140fs|NUP98_uc001lyk.2_Frame_Shift_Ins_p.F140fs|NUP98_uc010qxv.2_Frame_Shift_Ins_p.F103fs	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	140	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	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)		GATGTGCTGCCAAAAGGATTAG	0.391			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								A	3797188	-	A	3797187	7	5	236	1	0	1	1	0	0	0	0	0	10773	127	5	0	5170	0	NUP98	11	3797187	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	99613	3797187	131209329	596	119773											
OR51F2	119694	broad.mit.edu	37	chr11	4842865	4842865	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctatgctttcagccacaGacctgagcttgtccctgtgt	8	13	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:4842865G>T	uc010qyn.1	+	1	250	c.250G>T	c.(250-252)GAC>TAC	p.D84Y		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		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)		TTCAGCCACAGACCTGAGCTT	0.473													T	4842865	G	T	4842865	3	4	236	1	0	0	0	0	1	0	0	0	11097	942	33	5	252	5	OR51F2	11	4842865	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1045678	4842865	130163651	597	119774											
APBB1	322	broad.mit.edu	37	chr11	6432180	6432180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatgatcaggccaggtcctCgtaggcctcggttggctgcg	15	11	1	2	rs139345068		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:6432180C>T	uc001mdb.1	-	2	498	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	APBB1_uc001mdc.1_Missense_Mutation_p.R133Q|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	133					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(2)	2		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)		GCCAGGTCCTCGTAGGCCTCG	0.433													T	6432180	C	T	6432180	3	4	236	1	0	0	0	0	1	0	0	0	759	884	31	1	1786	1	APBB1	11	6432180	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1589315	6432180	128574336	598	119775											
ILK	3611	broad.mit.edu	37	chr11	6629353	6629354	+	Frame_Shift_Ins	INS	-	-	G													gttgagatgttgatcatgcgINSgggggcacggatcaatgtaa					rs141701406		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:6629352_6629353C>CG	uc001mee.3	+	2	301_302	c.166_167C>CG	c.(166-168)cggfs	p.R56fs	ILK_uc001mef.3_Frame_Shift_Ins_p.R56fs|ILK_uc010rap.2_Intron|ILK_uc010raq.2_Frame_Shift_Ins_p.R56fs|ILK_uc001meh.3_Frame_Shift_Ins_p.R56fs	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	56	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564													G	6629354	-	G	6629353	7	5	236	1	0	1	1	0	0	0	0	0	7713	1116	39	0	173	0	ILK	11	6629353	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	197173	6629353	128377163	599	119776											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs143767864	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		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)		CTGGGCCCTCCGGGGGGGTGA	0.587													-	6662142	G	-	6662142	7	5	236	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	32789	6662142	128344374	600	119777											
NLRP14	338323	broad.mit.edu	37	chr11	7064936	7064936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaagataaaatcaaagtTacttcagtgtatggaagtat	8	4	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:7064936T>C	uc001mfb.1	+	4	2002	c.1679T>C	c.(1678-1680)TTA>TCA	p.L560S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	560					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAATCAAAGTTACTTCAGTGT	0.373													C	7064936	T	C	7064936	3	2	236	1	0	0	0	0	1	0	0	0	10476	1764	61	3	1689	3	NLRP14	11	7064936	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	402794	7064936	127941580	601	119778											
CYB5R2	51700	broad.mit.edu	37	chr11	7689748	7689748	+	Frame_Shift_Del	DEL	T	T	-													tcccaggtgatcggccagtgTttttttaggctcactcgtct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:7689747_7689747GT>G	uc001mfm.3	-	5	672	c.434_434AC>C	c.(433-435)acafs	p.T145fs	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Frame_Shift_Del_p.T145fs|CYB5R2_uc009yfl.1_3'UTR	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	145					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)		ATCGGCCAGTGTTTTTTTAGG	0.522													-	7689748	T	-	7689748	7	5	236	1	0	1	0	1	0	0	0	0	4127	1725	60	0	413	0	CYB5R2	11	7689748	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	624812	7689748	127316768	602	119779											
RIC3	79608	broad.mit.edu	37	chr11	8161631	8161631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccacctgatcctttggcCtttgcaaatgcctcggcaag	8	15	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:8161631C>A	uc001mgd.2	-	2	288	c.234G>T	c.(232-234)AAG>AAT	p.K78N	RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.K78N|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K28N|RIC3_uc010rbm.1_Missense_Mutation_p.K78N|RIC3_uc009yfm.2_Missense_Mutation_p.K78N|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.K78N	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	78	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATCCTTTGGCCTTTGCAAATG	0.512													A	8161631	C	A	8161631	3	1	236	1	0	0	0	0	1	0	0	0	13354	680	24	5	892	5	RIC3	11	8161631	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	471883	8161631	126844885	603	119780											
MICALCL	84953	broad.mit.edu	37	chr11	12315442	12315442	+	Frame_Shift_Del	DEL	A	A	-													cttggctggagaagaccgggAaaaagggagtactggagcca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:12315441_12315441GA>G	uc001mkg.1	+	2	754	c.463_463GA>G	c.(463-465)gaafs	p.E155fs		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	155					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)		AGAAGACCGGGAAAAAGGGAG	0.567													-	12315442	A	-	12315442	7	5	236	1	0	1	0	1	0	0	0	0	9572	246	9	0	470	0	MICALCL	11	12315442	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	4153811	12315442	122691074	604	119781											
HPS5	11234	broad.mit.edu	37	chr11	18313387	18313388	+	Frame_Shift_Ins	INS	-	-	T													atcttcatctaatattccctINStttttgattcattaactaat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:18313386_18313387C>CT	uc001mod.1	-	15	2320_2321	c.2042_2043G>AG	c.(2041-2043)aagfs	p.K681fs	HPS5_uc001moe.1_Frame_Shift_Ins_p.K567fs|HPS5_uc001mof.1_Frame_Shift_Ins_p.K567fs	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	681						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						CTAATATTCCCTTTTTTGATTC	0.347									Hermansky-Pudlak syndrome				T	18313388	-	T	18313387	7	5	236	1	0	1	1	0	0	0	0	0	7342	1609	56	0	1379	0	HPS5	11	18313387	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	5997945	18313387	116693129	605	119782											
IGSF22	283284	broad.mit.edu	37	chr11	18741263	18741263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccctgcagggtacttacCtccacctctactttcttctt	5	16	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:18741263C>A	uc009yht.2	-	7	886	c.696G>T	c.(694-696)GAG>GAT	p.E232D	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	232	Ig-like 2.									ovary(4)|large_intestine(2)|kidney(1)	7						GGGTACTTACCTCCACCTCTA	0.532													A	18741263	C	A	18741263	3	1	236	1	0	0	0	0	1	0	0	0	7600	695	24	5	3352	5	IGSF22	11	18741263	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	427876	18741263	116265253	606	119783											
PRMT3	10196	broad.mit.edu	37	chr11	20515777	20515777	+	Frame_Shift_Del	DEL	A	A	-													acaaacagtatttctactggAaaaaccattttcagttaaag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:20515776_20515776GA>G	uc001mqb.3	+	14	1679	c.1462_1462GA>G	c.(1462-1464)gaafs	p.E488fs	PRMT3_uc001mqc.3_Frame_Shift_Del_p.E411fs|PRMT3_uc010rdn.2_Frame_Shift_Del_p.E426fs	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	488							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ATTTCTACTGGAAAAACCATT	0.373													-	20515777	A	-	20515777	7	5	236	1	0	1	0	1	0	0	0	0	12538	246	9	0	1521	0	PRMT3	11	20515777	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	1774514	20515777	114490739	607	119784											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812318	+	Frame_Shift_Ins	INS	-	-	G													catgtgtgtctgcatatgtgINSggggggtgtaggtatcataa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:31812316_31812317T>TG	uc009yjr.3	-	11	1593_1594	c.1124_1125A>CA	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Ins_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Ins_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Ins_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Ins_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				G	31812318	-	G	31812317	7	5	236	1	0	1	1	0	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	11296540	31812317	103194199	608	119785											
QSER1	79832	broad.mit.edu	37	chr11	32955500	32955500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacatcccttccttcagaTggaaggtcatgttattcaaa	7	9	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:32955500T>C	uc001mty.2	+	4	2576	c.2309T>C	c.(2308-2310)ATG>ACG	p.M770T	QSER1_uc001mtz.1_Missense_Mutation_p.M531T|QSER1_uc001mua.2_Missense_Mutation_p.M275T	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	770	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TTCCTTCAGATGGAAGGTCAT	0.418													C	32955500	T	C	32955500	3	2	236	1	0	0	0	0	1	0	0	0	12882	1464	51	3	2315	3	QSER1	11	32955500	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1143183	32955500	102051016	609	119786											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					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						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	236	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	2558170	35513670	99492846	610	119787											
ACCSL	390110	broad.mit.edu	37	chr11	44073203	44073203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatgtgttgtcttcagGtggtggttctaaatggctgc	12	8	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:44073203G>A	uc001mxw.1	+	5	762	c.706G>A	c.(706-708)GTG>ATG	p.V236M	ACCSL_uc009ykr.2_Missense_Mutation_p.V55M	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	236							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTGTCTTCAGGTGGTGGTTCT	0.532													A	44073203	G	A	44073203	3	1	236	1	0	0	0	0	1	0	0	0	134	1275	44	4	724	4	ACCSL	11	44073203	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	8559533	44073203	90933313	611	119788											
CHST1	8534	broad.mit.edu	37	chr11	45671407	45671407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgccacttctcggccGtggccgccgagtttcgcacg	14	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:45671407G>A	uc001mys.1	-	4	1738	c.1067C>T	c.(1066-1068)ACG>ATG	p.T356M		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	356	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTTCTCGGCCGTGGCCGCCGA	0.677													A	45671407	G	A	45671407	3	1	236	1	0	0	0	0	1	0	0	0	3397	1145	40	1	172	1	CHST1	11	45671407	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1598204	45671407	89335109	612	119789											
AMBRA1	55626	broad.mit.edu	37	chr11	46439470	46439470	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagccacttactctggtcGgcagatcaccaggtctcctt	8	13	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:46439470G>A	uc010rgu.1	-	15	3469	c.3109C>T	c.(3109-3111)CGA>TGA	p.R1037*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.R603*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R1008*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R947*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.R1040*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R918*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R977*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1037					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TACTCTGGTCGGCAGATCACC	0.542													A	46439470	G	A	46439470	4	1	236	1	0	0	0	0	0	1	0	0	565	1124	39	1	803	1	AMBRA1	11	46439470	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	768063	46439470	88567046	613	119790											
AMBRA1	55626	broad.mit.edu	37	chr11	46564257	46564257	+	Frame_Shift_Del	DEL	G	G	-													aagaggcactggttctgggcGggggcatggattccgcctca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:46564256_46564256CG>C	uc001ncv.2	-	7	1355	c.1041_1041CG>G	c.(1039-1041)ccgfs	p.P347fs	AMBRA1_uc010rgt.1_Frame_Shift_Del_p.P3fs|AMBRA1_uc009ylc.1_Frame_Shift_Del_p.P437fs|AMBRA1_uc001ncu.1_Frame_Shift_Del_p.P347fs|AMBRA1_uc010rgu.1_Frame_Shift_Del_p.P437fs|AMBRA1_uc001ncw.2_Frame_Shift_Del_p.P347fs|AMBRA1_uc001ncx.2_Frame_Shift_Del_p.P437fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	413					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)		TGGTTCTGGGCGGGGGCATGG	0.572													-	46564257	G	-	46564257	7	5	236	1	0	1	0	1	0	0	0	0	565	1116	39	0	2634	0	AMBRA1	11	46564257	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	124787	46564257	88442259	614	119791											
ZNF408	79797	broad.mit.edu	37	chr11	46726189	46726189	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaagttacacagccccagTgatcagtgcccacccagagc	9	14	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:46726189T>A	uc001nde.1	+	5	1169	c.939T>A	c.(937-939)AGT>AGA	p.S313R	ZNF408_uc010rgw.1_Missense_Mutation_p.S305R	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						ACAGCCCCAGTGATCAGTGCC	0.632													A	46726189	T	A	46726189	3	1	236	1	0	0	0	0	1	0	0	0	17885	1693	59	5	989	5	ZNF408	11	46726189	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	161932	46726189	88280327	615	119792											
FOLH1	2346	broad.mit.edu	37	chr11	49179535	49179535	+	Frame_Shift_Del	DEL	T	T	-													actgaactctggggaaggacTttttttagtccaactttcat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:49179534_49179534CT>C	uc001ngy.3	-	13	1763	c.1502_1502AG>G	c.(1501-1503)agtfs	p.S501fs	FOLH1_uc009yly.3_Frame_Shift_Del_p.S486fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.S486fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.S501fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.S193fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	501	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.K500E(1)|p.S501fs*12(1)		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)	TGGGGAAGGACTTTTTTTAGT	0.348													-	49179535	T	-	49179535	7	5	236	1	0	1	0	1	0	0	0	0	5979	1609	56	0	775	0	FOLH1	11	49179535	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	2453346	49179535	85826981	616	119793											
OR8J3	81168	broad.mit.edu	37	chr11	55904812	55904812	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgtagagcagagggTtacaaatggccacatagcgg	12	10	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:55904812T>A	uc010riz.1	-	1	383	c.383A>T	c.(382-384)AAC>ATC	p.N128I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GAGCAGAGGGTTACAAATGGC	0.507													A	55904812	T	A	55904812	3	1	236	1	0	0	0	0	1	0	0	0	11242	1725	60	5	566	5	OR8J3	11	55904812	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	6725277	55904812	79101704	617	119794											
OR8H1	219469	broad.mit.edu	37	chr11	56057710	56057711	+	Frame_Shift_Ins	INS	-	-	A													atgggaatcacaatagtataINSaaaaacagaagccacttgat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:56057709_56057710T>TA	uc010rje.2	-	0	829_830	c.829_830A>TA	c.(829-831)tatfs	p.Y277fs		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	277					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)					CACAATAGTATAAAAAACAGAA	0.351													A	56057711	-	A	56057710	7	5	236	1	0	1	1	0	0	0	0	0	11237	362	13	0	108	0	OR8H1	11	56057710	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	152898	56057710	78948806	618	119795											
OR9I1	219954	broad.mit.edu	37	chr11	57885993	57885993	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacatgctcagggacacctgGagtctcctagcgacctttct	9	13	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:57885993G>T	uc001nml.1	-	1	924	c.924C>A	c.(922-924)CTC>CTA	p.L308L	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				GGGACACCTGGAGTCTCCTAG	0.418													T	57885993	G	T	57885993	2	4	236	1	0	0	0	0	0	0	0	1	11253	1161	41	5		5	OR9I1	11	57885993	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1828283	57885993	77120523	619	119796											
PGA5	5222	broad.mit.edu	37	chr11	61017238	61017238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccaaccagccccattGccaacatccagagcgacatc	7	19	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:61017238G>A	uc001nqz.2	+	7	901	c.871G>A	c.(871-873)GCC>ACC	p.A291T		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I precursor	291				A -> T (in Ref. 3; BAF84553).	digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			skin(1)	1						CAGCCCCATTGCCAACATCCA	0.612													A	61017238	G	A	61017238	3	1	236	1	0	0	0	0	1	0	0	0	11772	1319	46	2	897	2	PGA5	11	61017238	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3131245	61017238	73989278	620	119797											
MTA2	9219	broad.mit.edu	37	chr11	62361349	62361349	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccttccccacaggtgctcAgtcctccaggacaataggct	8	16	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:62361349A>T	uc001ntq.1	-	18	2386	c.2005T>A	c.(2005-2007)TGA>AGA	p.*669R	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Nonstop_Mutation_p.*496R	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	669					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ACAGGTGCTCAGTCCTCCAGG	0.607											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	62361349	A	T	62361349	4	4	236	1	0	0	0	0	0	0	0	0	9909	201	7	5	5	5	MTA2	11	62361349	Nonstop_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1344111	62361349	72645167	621	119798											
NXF1	10482	broad.mit.edu	37	chr11	62569485	62569485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtactggcgtcttcaaCgaagaactgggcccgtgtat	13	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:62569485C>T	uc001nvf.1	-	5	623	c.487G>A	c.(487-489)GTT>ATT	p.V163I	NXF1_uc001nvg.1_Missense_Mutation_p.V163I|NXF1_uc009yog.1_Missense_Mutation_p.V206I|NXF1_uc010rmh.1_Missense_Mutation_p.V26I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	163	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GCGTCTTCAACGAAGAACTGG	0.517													T	62569485	C	T	62569485	3	4	236	1	0	0	0	0	1	0	0	0	10782	536	19	1	1495	1	NXF1	11	62569485	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	208136	62569485	72437031	622	119799											
MARK2	2011	broad.mit.edu	37	chr11	63672464	63672464	+	Frame_Shift_Del	DEL	G	G	-													tggccacagccagggccggcGgggggcctctgggagcatct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:63672463_63672463CG>C	uc001nxw.3	+	15	2461	c.1882_1882CG>C	c.(1882-1884)cggfs	p.R628fs	MARK2_uc001nxv.4_Frame_Shift_Del_p.R573fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.R574fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.R573fs|MARK2_uc001nxz.4_Frame_Shift_Del_p.R594fs|MARK2_uc009yoy.3_Frame_Shift_Del_p.R548fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	628					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						CCAGGGCCGGCGGGGGGCCTC	0.627													-	63672464	G	-	63672464	7	5	236	1	0	1	0	1	0	0	0	0	9313	1116	39	0	1945	0	MARK2	11	63672464	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1102979	63672464	71334052	623	119800											
SF1	7536	broad.mit.edu	37	chr11	64534407	64534407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggtactggaagccataCtgctgctgggcggagggggt	20	7	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64534407C>T	uc001obb.1	-	12	1924	c.1547G>A	c.(1546-1548)AGT>AAT	p.S516N	SF1_uc010rnm.1_Missense_Mutation_p.S208N|SF1_uc010rnn.1_Missense_Mutation_p.S490N|SF1_uc001oaz.1_Missense_Mutation_p.S641N|SF1_uc001oba.1_Missense_Mutation_p.S516N|SF1_uc001obc.1_Missense_Mutation_p.S516N|SF1_uc001obd.1_Silent_p.Q517Q|SF1_uc001obe.1_Silent_p.Q402Q|SF1_uc010rno.1_Missense_Mutation_p.S401N	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	516	Pro-rich.				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			ovary(1)|breast(1)|skin(1)	3						GGAAGCCATACTGCTGCTGGG	0.642													T	64534407	C	T	64534407	3	4	236	1	0	0	0	0	1	0	0	0	14145	565	20	4	514	4	SF1	11	64534407	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	861943	64534407	70472109	624	119801											
CDC42BPG	55561	broad.mit.edu	37	chr11	64595039	64595039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtcaggcggaccttctcGgtgccgtagaggaacaggga	16	9	2	1	rs71539697		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64595039G>A	uc001obs.3	-	32	4110	c.4110C>T	c.(4108-4110)ACC>ACT	p.T1370T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1370					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			lung(3)|central_nervous_system(1)	4						GGACCTTCTCGGTGCCGTAGA	0.677													A	64595039	G	A	64595039	2	1	236	1	0	0	0	0	0	0	0	1	3074	1103	39	1		1	CDC42BPG	11	64595039	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	60632	64595039	70411477	625	119802											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597712	64597712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccctcctcggtgccaagCgcaagtcgatcctggtctgg	12	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64597712C>T	uc001obs.3	-	29	3321	c.3321G>A	c.(3319-3321)GCG>GCA	p.A1107A		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1107	CNH.				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			lung(3)|central_nervous_system(1)	4						CGGTGCCAAGCGCAAGTCGAT	0.363													T	64597712	C	T	64597712	2	4	236	1	0	0	0	0	0	0	0	1	3074	755	27	1		1	CDC42BPG	11	64597712	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2673	64597712	70408804	626	119803											
C11orf2	738	broad.mit.edu	37	chr11	64878804	64878804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccctgcctgcaggtgtcGgtgctgaccggcatcatcaa	12	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64878804G>A	uc001ocr.1	+	10	2134	c.2094G>A	c.(2092-2094)TCG>TCA	p.S698S	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Silent_p.S574S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	698					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGCAGGTGTCGGTGCTGACCG	0.627													A	64878804	G	A	64878804	2	1	236	1	0	0	0	0	0	0	0	1	1633	1103	39	1		1	C11orf2	11	64878804	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	281092	64878804	70127712	627	119804											
POLA2	23649	broad.mit.edu	37	chr11	65046287	65046287	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcacagggagtatcttggtCtgggagaggaggagctggaa	18	5	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:65046287C>T	uc001odj.2	+	6	890	c.548C>T	c.(547-549)TCT>TTT	p.S183F	POLA2_uc009yqf.1_Missense_Mutation_p.S183F|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	183					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	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	GTATCTTGGTCTGGGAGAGGA	0.498													T	65046287	C	T	65046287	3	4	236	1	0	0	0	0	1	0	0	0	12188	913	32	4	570	4	POLA2	11	65046287	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	167483	65046287	69960229	628	119805											
CATSPER1	117144	broad.mit.edu	37	chr11	65792903	65792903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgctctggacgtagtcGccatggaggtaactggaatg	15	7	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:65792903G>A	uc001ogt.2	-	1	1086	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	316	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GGACGTAGTCGCCATGGAGGT	0.378													A	65792903	G	A	65792903	2	1	236	1	0	0	0	0	0	0	0	1	2687	1074	38	1		1	CATSPER1	11	65792903	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	746616	65792903	69213613	629	119806											
CCS	9973	broad.mit.edu	37	chr11	66367082	66367082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccacgtccatcagtacGgggaccttacaaacaactgc	8	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:66367082G>A	uc001oir.2	+	4	446	c.403G>A	c.(403-405)GGG>AGG	p.G135R	CCS_uc001ois.2_5'Flank	NM_005125	NP_005116	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	135	Superoxide dismutase-like.				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				0						CCATCAGTACGGGGACCTTAC	0.468													A	66367082	G	A	66367082	3	1	236	1	0	0	0	0	1	0	0	0	2952	1116	39	1	417	1	CCS	11	66367082	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	574179	66367082	68639434	630	119807											
RBM4	5936	broad.mit.edu	37	chr11	66411375	66411375	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacagctgctgctgcAgcagcagccgctgctgctgt	13	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:66411375A>T	uc009yrj.2	+	3	1355	c.867A>T	c.(865-867)GCA>GCT	p.A289A	RBM4_uc009yrk.2_Silent_p.A264A|RBM4_uc001oiw.1_Silent_p.A289A|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.A289A|RBM4_uc001oiz.1_Silent_p.A289A	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	289	Interaction with TNPO3.|Poly-Ala.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		ctgctgctgcagcagcagccg	0.438													T	66411375	A	T	66411375	2	4	236	1	0	0	0	0	0	0	0	1	13134	175	7	5		5	RBM4	11	66411375	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	44293	66411375	68595141	631	119808											
LRFN4	78999	broad.mit.edu	37	chr11	66627389	66627389	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggttcggggccggggggCcggaaatggccgcctccccc	18	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:66627389C>G	uc001ojr.2	+	2	1971	c.1631C>G	c.(1630-1632)GCC>GGC	p.A544G	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	544	Cytoplasmic (Potential).					integral to membrane					0						GGCCGGGGGGCCGGAAATGGC	0.637													G	66627389	C	G	66627389	3	3	236	1	0	0	0	0	1	0	0	0	8940	739	26	5	1637	5	LRFN4	11	66627389	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	216014	66627389	68379127	632	119809											
TBX10	347853	broad.mit.edu	37	chr11	67402372	67402373	+	Frame_Shift_Ins	INS	-	-	G													cccaggatcttcacctggaaINSgggggggaacatcctcctgc					rs144542807		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:67402372_67402373insG	uc001omp.2	-	3	379_380	c.291_292insC	c.(289-294)CCCTTCfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	97_98	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCACCTGGAAGGGGGGGAACA	0.678													G	67402373	-	G	67402372	7	5	236	1	0	1	1	0	0	0	0	0	15648	72	3	0	889	0	TBX10	11	67402372	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	774983	67402372	67604144	633	119810	612	2									
TBX10	347853	broad.mit.edu	37	chr11	67402373	67402374	+	Frame_Shift_Ins	INS	-	-	G													ccaggatcttcacctggaagINSggggggaacatcctcctgcg					rs144542807		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:67402372_67402373A>AG	uc001omp.3	-	2	379_380	c.291_292T>CT	c.(289-294)cccttcfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	97					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						TTCACCTGGAAGGGGGGGAACA	0.678													G	67402374	-	G	67402373	7	5	236	1	0	1	1	0	0	0	0	0	15648	987	35	0	890	0	TBX10	11	67402373	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	67402373	67604143	634	119811	612	2									
SHANK2	22941	broad.mit.edu	37	chr11	70338504	70338504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgatggtcgccaccctcGgttccacagccatgttctca	9	15	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:70338504G>A	uc001oqc.2	-	18	2453	c.2375C>T	c.(2374-2376)CCG>CTG	p.P792L	SHANK2_uc010rqn.1_Missense_Mutation_p.P204L|SHANK2_uc001opz.2_Missense_Mutation_p.P197L|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.P194L|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.P5L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	413					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGCCACCCTCGGTTCCACAGC	0.637													A	70338504	G	A	70338504	3	1	236	1	0	0	0	0	1	0	0	0	14265	1116	39	1	3194	1	SHANK2	11	70338504	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2936131	70338504	64668012	635	119812											
NADSYN1	55191	broad.mit.edu	37	chr11	71208564	71208564	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acatatgcggagctctcggtCtatgggaaactcaggaaggt	13	8	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:71208564C>G	uc001oqn.2	+	19	1926	c.1800C>G	c.(1798-1800)GTC>GTG	p.V600V	NADSYN1_uc001oqo.2_Silent_p.V340V|NADSYN1_uc001oqp.2_Silent_p.V229V	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	600	Ligase (By similarity).				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			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCTCTCGGTCTATGGGAAAC	0.527													G	71208564	C	G	71208564	2	3	236	1	0	0	0	0	0	0	0	1	10138	900	32	5		5	NADSYN1	11	71208564	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	870060	71208564	63797952	636	119813											
B3GNT6	192134	broad.mit.edu	37	chr11	76750655	76750655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctgcctcctggtgggCgtgagtttcttagcactgca	13	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:76750655C>T	uc001oxw.2	+	2	148	c.60C>T	c.(58-60)GGC>GGT	p.G20G		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	20	Helical; Signal-anchor for type II membrane protein; (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						TCCTGGTGGGCGTGAGTTTCT	0.652											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	76750655	C	T	76750655	2	4	236	1	0	0	0	0	0	0	0	1	1261	755	27	1		1	B3GNT6	11	76750655	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5542091	76750655	58255861	637	119814											
RSF1	51773	broad.mit.edu	37	chr11	77388037	77388037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagatatcttttcctcgGccaactcctgaatttggggg	12	9	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:77388037G>A	uc001oyn.2	-	13	3261	c.3141C>T	c.(3139-3141)GGC>GGT	p.G1047G	RSF1_uc001oym.2_Silent_p.G795G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1047					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			ovary(2)|central_nervous_system(2)	4	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)			CTTTTCCTCGGCCAACTCCTG	0.413													A	77388037	G	A	77388037	2	1	236	1	0	0	0	0	0	0	0	1	13699	1190	42	2		2	RSF1	11	77388037	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	637382	77388037	57618479	638	119815											
PRCP	5547	broad.mit.edu	37	chr11	82549488	82549488	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatacatagtagtgatccaGgagggccttggtctcacacc	10	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:82549488G>T	uc001ozs.2	-	8	1328	c.1215C>A	c.(1213-1215)TCC>TCA	p.S405S	PRCP_uc001ozr.2_Silent_p.S426S	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	405					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TAGTGATCCAGGAGGGCCTTG	0.413													T	82549488	G	T	82549488	2	4	236	1	0	0	0	0	0	0	0	1	12449	987	35	5		5	PRCP	11	82549488	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5161451	82549488	52457028	639	119816											
C11orf82	220042	broad.mit.edu	37	chr11	82643360	82643360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgagtgcagttcacaGcagtcatcatgaaattggag	13	7	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:82643360G>A	uc001ozt.2	+	6	1224	c.980G>A	c.(979-981)AGC>AAC	p.S327N	C11orf82_uc010rsr.1_Missense_Mutation_p.S26N|C11orf82_uc010rss.1_Missense_Mutation_p.S26N|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	327					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						GCAGTTCACAGCAGTCATCAT	0.398													A	82643360	G	A	82643360	3	1	236	1	0	0	0	0	1	0	0	0	1665	971	34	2	994	2	C11orf82	11	82643360	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	93872	82643360	52363156	640	119817											
CHORDC1	26973	broad.mit.edu	37	chr11	89939416	89939416	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatatacacagacttcttCtagactctctagaccctggt	6	11	3	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:89939416C>A	uc001pdg.2	-	7	927	c.517G>T	c.(517-519)GAA>TAA	p.E173*	CHORDC1_uc009yvz.2_Nonsense_Mutation_p.E154*	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing	173	Interaction with HSP90AA1 and HSP90AB1 (By similarity).|CHORD 2.				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CAGACTTCTTCTAGACTCTCT	0.323													A	89939416	C	A	89939416	4	1	236	1	0	0	0	0	0	1	0	0	3365	922	32	5	501	5	CHORDC1	11	89939416	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7296056	89939416	45067100	641	119818											
AMOTL1	154810	broad.mit.edu	37	chr11	94533230	94533230	+	Frame_Shift_Del	DEL	G	G	-													gaaagggcttcaaagtaggaGgggggccctcccctgcccag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:94533229_94533229AG>A	uc001pfb.3	+	2	1043	c.873_873AG>A	c.(871-873)ggafs	p.G291fs	AMOTL1_uc001pfc.3_Frame_Shift_Del_p.G241fs	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	291						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)				TCAAAGTAGGAGGGGGGCCCT	0.607													-	94533230	G	-	94533230	7	5	236	1	0	1	0	1	0	0	0	0	583	1000	35	0	884	0	AMOTL1	11	94533230	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	4593814	94533230	40473286	642	119819											
CEP57	9702	broad.mit.edu	37	chr11	95552045	95552045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaacaggaaaggaaaCgcatgcaagctaaggcagct	12	7	0	2	rs144903440		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:95552045C>T	uc001pfp.1	+	6	897	c.676C>T	c.(676-678)CGC>TGC	p.R226C	CEP57_uc001pfo.1_Missense_Mutation_p.R226C|CEP57_uc010ruh.1_Missense_Mutation_p.R217C|CEP57_uc010rui.1_Missense_Mutation_p.R226C|CEP57_uc009ywn.1_Missense_Mutation_p.R74C|CEP57_uc001pfq.1_Missense_Mutation_p.R226C|CEP57_uc001pfr.1_Missense_Mutation_p.R74C	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	226	Potential.|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			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAAGGAAACGCATGCAAGC	0.353									Mosaic_Variegated_Aneuploidy_Syndrome				T	95552045	C	T	95552045	3	4	236	1	0	0	0	0	1	0	0	0	3256	536	19	1	698	1	CEP57	11	95552045	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1018815	95552045	39454471	643	119820											
NPAT	4863	broad.mit.edu	37	chr11	108031933	108031933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactgtcttcactgaaacGcctactagagggggccttga	10	11	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:108031933G>A	uc001pjz.3	-	17	3982	c.3880C>T	c.(3880-3882)CGT>TGT	p.R1294C	NPAT_uc010rvv.1_Missense_Mutation_p.R350C	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1294					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			ovary(2)	2		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)		TCACTGAAACGCCTACTAGAG	0.493													A	108031933	G	A	108031933	3	1	236	1	0	0	0	0	1	0	0	0	10566	1087	38	1	411	1	NPAT	11	108031933	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	12479888	108031933	26974583	644	119821											
NPAT	4863	broad.mit.edu	37	chr11	108042927	108042928	+	Splice_Site	INS	-	-	T													ttatgttattaaagttacctINStgtgaaaagtttggtgacac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:108042926_108042927C>CT	uc001pjz.4	-	13	2887	c.2785_splice	c.e13+1	p.G929_splice	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Frame_Shift_Ins_p.Q723fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	929					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)		TTAAAGTTACCTTGTGAAAAGT	0.376													T	108042928	-	T	108042927	8	5	236	1	0	1	1	0	0	0	1	0	10566	1623	56	0	1523	0	NPAT	11	108042927	Splice_Site	INS	-	TCGA-F1-6874-01A-11D-1882-08	10994	108042927	26963589	645	119822											
ATM	472	broad.mit.edu	37	chr11	108170454	108170454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtagaggctgttggaagCtgcttgggagaagtgggtcc	17	5	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:108170454C>T	uc001pkb.1	+	34	5404	c.5019C>T	c.(5017-5019)AGC>AGT	p.S1673S	ATM_uc009yxr.1_Silent_p.S1673S|ATM_uc001pke.1_Silent_p.S325S|ATM_uc001pkg.1_Silent_p.S30S	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1673					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		CTGTTGGAAGCTGCTTGGGAG	0.333			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)			T	108170454	C	T	108170454	2	4	236	1	0	0	0	0	0	0	0	1	1109	796	28	2		2	ATM	11	108170454	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	127527	108170454	26836062	646	119823											
DRD2	1813	broad.mit.edu	37	chr11	113281585	113281585	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggcgggatgttgcagtcaCagtgtatgttcaggatgtgt	15	6	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:113281585C>G	uc001pnz.2	-	7	1517	c.1196G>C	c.(1195-1197)TGT>TCT	p.C399S	DRD2_uc010rwv.1_Missense_Mutation_p.C398S|DRD2_uc001poa.3_Missense_Mutation_p.C399S|DRD2_uc001pob.3_Missense_Mutation_p.C370S	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	399	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		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)	GTTGCAGTCACAGTGTATGTT	0.577													G	113281585	C	G	113281585	3	3	236	1	0	0	0	0	1	0	0	0	4757	478	17	5	139	5	DRD2	11	113281585	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5111131	113281585	21724931	647	119824											
FAM55A	120400	broad.mit.edu	37	chr11	114401164	114401164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccctccagagagccgacGccccttcactggggtggatg	13	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:114401164G>A	uc001ppa.2	-	3	557	c.140C>T	c.(139-141)GCG>GTG	p.A47V	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.A189V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	189						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GAGAGCCGACGCCCCTTCACT	0.512													A	114401164	G	A	114401164	3	1	236	1	0	0	0	0	1	0	0	0	5584	1087	38	1	1093	1	FAM55A	11	114401164	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1119579	114401164	20605352	648	119825											
UBE4A	9354	broad.mit.edu	37	chr11	118253491	118253491	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggacatcgaatttacaGgtaaagcagtcatgaagctg	11	6	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:118253491G>C	uc001psw.2	+	13	2326	c.2197G>C	c.(2197-2199)GGA>CGA	p.G733R	UBE4A_uc001psv.2_Missense_Mutation_p.G740R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	733					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		CGAATTTACAGGTAAAGCAGT	0.423													C	118253491	G	C	118253491	3	2	236	1	0	0	0	0	1	0	0	0	16879	1014	35	5	2264	5	UBE4A	11	118253491	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3852327	118253491	16753025	649	119826											
MLL	4297	broad.mit.edu	37	chr11	118374689	118374689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagaacagtgatttcttcAggtggagaggaacgactggc	13	7	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:118374689A>G	uc001pta.2	+	27	8096	c.8073A>G	c.(8071-8073)TCA>TCG	p.S2691S	MLL_uc001ptb.2_Silent_p.S2694S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2691					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGATTTCTTCAGGTGGAGAGG	0.448			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								G	118374689	A	G	118374689	2	3	236	1	0	0	0	0	0	0	0	1	9620	175	7	3		3	MLL	11	118374689	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	121198	118374689	16631827	650	119827											
BCL9L	283149	broad.mit.edu	37	chr11	118773197	118773197	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgcggagcagcagtcGctcaatgtctcgcagcgtct	12	14	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:118773197G>A	uc001pug.2	-	6	2220	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	BCL9L_uc009zal.2_Nonsense_Mutation_p.R414*	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	419	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				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			ovary(1)|pancreas(1)	2	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)		AGCAGCAGTCGCTCAATGTCT	0.682													A	118773197	G	A	118773197	4	1	236	1	0	0	0	0	0	1	0	0	1382	1095	38	1	3256	1	BCL9L	11	118773197	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	398508	118773197	16233319	651	119828											
NLRX1	79671	broad.mit.edu	37	chr11	119053878	119053878	+	Frame_Shift_Del	DEL	G	G	-													cgccaggtcttgcgagacttGgggggtgctgctgaaggtgg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119053877_119053877TG>T	uc001pvu.3	+	9	2872	c.2657_2657TG>T	c.(2656-2658)ttgfs	p.L886fs	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Frame_Shift_Del_p.L886fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.L886fs|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	886	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)		TTGCGAGACTTGGGGGGTGCT	0.587													-	119053878	G	-	119053878	7	5	236	1	0	1	0	1	0	0	0	0	10485	1339	47	0	2692	0	NLRX1	11	119053878	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	280681	119053878	15952638	652	119829											
CCDC153	283152	broad.mit.edu	37	chr11	119063872	119063872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctacctagctgccccCgaaggcctttgacttcttcc	7	16	1	1	rs148526857	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119063872C>T	uc010rze.1	-	5	426	c.338G>A	c.(337-339)CGG>CAG	p.R113Q		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	coiled-coil domain containing 153	113	Potential.										0						TAGCTGCCCCCGAAGGCCTTT	0.597													T	119063872	C	T	119063872	3	4	236	1	0	0	0	0	1	0	0	0	2787	652	23	1	306	1	CCDC153	11	119063872	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	9994	119063872	15942644	653	119830											
C1QTNF5	114902	broad.mit.edu	37	chr11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C													ggctccagcctcaccatggcINScccccccgagagcgaggctg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													C	119210191	-	C	119210190	7	5	236	1	0	1	1	0	0	0	0	0	1966	739	26	0	152	0	C1QTNF5	11	119210190	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	146318	119210190	15796326	654	119831											
USP2	9099	broad.mit.edu	37	chr11	119243681	119243682	+	Frame_Shift_Ins	INS	-	-	G													tgcgcgtccgggccagcatgINSgggctgcggcccaggttcct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119243680_119243681T>TG	uc001pwm.4	-	1	805_806	c.510_511A>CA	c.(508-513)cccatgfs	p.P170fs	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	170	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CGGGCCAGCATGGGGCTGCGGC	0.634													G	119243682	-	G	119243681	7	5	236	1	0	1	1	0	0	0	0	0	17048	1335	47	0	1506	0	USP2	11	119243681	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	33491	119243681	15762835	655	119832											
TBCEL	219899	broad.mit.edu	37	chr11	120924331	120924331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaccctctgaatttgtcGgttttagaaagaacatgtgc	8	9	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:120924331G>A	uc009zay.2	+	4	423	c.345G>A	c.(343-345)TCG>TCA	p.S115S	TBCEL_uc001pxo.2_Silent_p.S115S|TBCEL_uc001pxp.2_Intron|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	115	LRR 2.					cytoplasm|cytoskeleton				skin(1)	1		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)		TGAATTTGTCGGTTTTAGAAA	0.423													A	120924331	G	A	120924331	2	1	236	1	0	0	0	0	0	0	0	1	15632	1103	39	1		1	TBCEL	11	120924331	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1680650	120924331	14082185	656	119833											
TECTA	7007	broad.mit.edu	37	chr11	120976630	120976630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctgagattaagttggCcatcccagttttcttctttg	7	10	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:120976630C>T	uc010rzo.1	+	2	155	c.155C>T	c.(154-156)GCC>GTC	p.A52V		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	52					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		ATTAAGTTGGCCATCCCAGTT	0.468													T	120976630	C	T	120976630	3	4	236	1	0	0	0	0	1	0	0	0	15744	739	26	2	161	2	TECTA	11	120976630	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	52299	120976630	14029886	657	119834											
OR8B2	26595	broad.mit.edu	37	chr11	124253126	124253126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccaaggttgcctaccatGgtgacaatgtagatcactag	10	9	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:124253126G>A	uc010sai.1	-	1	114	c.114C>T	c.(112-114)ACC>ACT	p.T38T	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		TGCCTACCATGGTGACAATGT	0.418													A	124253126	G	A	124253126	2	1	236	1	0	0	0	0	0	0	0	1	11227	1335	47	4		4	OR8B2	11	124253126	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3276496	124253126	10753390	658	119835											
CCDC15	80071	broad.mit.edu	37	chr11	124845056	124845056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaccgtgattaaaaaaaAgggatcagtgtttccagatg	9	5	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:124845056A>G	uc001qbm.3	+	5	840	c.581A>G	c.(580-582)AAG>AGG	p.K194R		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	194						centrosome				ovary(1)|central_nervous_system(1)	2	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)		ATTAAAAAAAAGGGATCAGTG	0.358													G	124845056	A	G	124845056	3	3	236	1	0	0	0	0	1	0	0	0	2784	72	3	3	595	3	CCDC15	11	124845056	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	591930	124845056	10161460	659	119836											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840436	128840436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggagtggtgtccagatgCgtttcttcctggggccacat	13	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:128840436C>T	uc009zcp.2	-	22	4630	c.4630G>A	c.(4630-4632)GCA>ACA	p.A1544T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.A503T|ARHGAP32_uc001qez.2_Missense_Mutation_p.A1195T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1544	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			lung(3)|ovary(2)	5						TGTCCAGATGCGTTTCTTCCT	0.517													T	128840436	C	T	128840436	3	4	236	1	0	0	0	0	1	0	0	0	881	768	27	1	1637	1	ARHGAP32	11	128840436	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3995380	128840436	6166080	660	119837											
ARHGAP32	9743	broad.mit.edu	37	chr11	128856447	128856447	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcatacagctggtaggtaAgcagagggtttgggagttcc	14	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:128856447A>T	uc009zcp.2	-	13	1373	c.1373T>A	c.(1372-1374)CTT>CAT	p.L458H	ARHGAP32_uc009zcq.1_Missense_Mutation_p.L418H|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.L109H|ARHGAP32_uc001qfb.2_Missense_Mutation_p.L243H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	458	Rho-GAP.				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			lung(3)|ovary(2)	5						CTGGTAGGTAAGCAGAGGGTT	0.448													T	128856447	A	T	128856447	3	4	236	1	0	0	0	0	1	0	0	0	881	72	3	5	4930	5	ARHGAP32	11	128856447	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	16011	128856447	6150069	661	119838											
PRDM10	56980	broad.mit.edu	37	chr11	129800918	129800918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccccacttactcggatgCgcttggctctgcgcatgtcg	10	14	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:129800918C>T	uc001qfm.2	-	11	1755	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	PRDM10_uc001qfj.2_Missense_Mutation_p.R422H|PRDM10_uc001qfk.2_Missense_Mutation_p.R422H|PRDM10_uc001qfl.2_Missense_Mutation_p.R422H|PRDM10_uc010sbx.1_Missense_Mutation_p.R422H|PRDM10_uc001qfn.2_Missense_Mutation_p.R508H|PRDM10_uc009zct.1_Missense_Mutation_p.R540H	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		TACTCGGATGCGCTTGGCTCT	0.607													T	129800918	C	T	129800918	3	4	236	1	0	0	0	0	1	0	0	0	12451	768	27	1	2007	1	PRDM10	11	129800918	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	944471	129800918	5205598	662	119839											
THYN1	29087	broad.mit.edu	37	chr11	134121096	134121099	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													cagtggctgcttagattcttCaaacagtttttagtggctga							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:134121095_134121098TCAAA>T	uc001qhf.3	-	2	250_253	c.148_151TTTGA>A	c.(148-153)ttgaagfs	p.L50fs	THYN1_uc001qhg.3_Frame_Shift_Del_p.L50fs|THYN1_uc001qhh.3_Frame_Shift_Del_p.L50fs|THYN1_uc001qhi.3_Frame_Shift_Del_p.L50fs|THYN1_uc001qhj.3_Frame_Shift_Del_p.L50fs|THYN1_uc009zdb.3_Frame_Shift_Del_p.L50fs|ACAD8_uc009zdc.3_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.2_5'Flank|ACAD8_uc001qhk.3_5'Flank|ACAD8_uc001qhl.3_5'Flank	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	50						nucleus		p.C49fs*1(2)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CTTAGATTCTTCAAACAGTTTTTA	0.495													-	134121099	CAAA	-	134121096	7	5	236	1	0	1	0	1	0	0	0	0	15883	825	29	0	551	0	THYN1	11	134121096	Frame_Shift_Del	DEL	CAAA	TCGA-F1-6874-01A-11D-1882-08	4320178	134121096	885420	663	119840											
B3GAT1	27087	broad.mit.edu	37	chr11	134257522	134257522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcagcacgatgaggAcgatcgctaggatgtcccgt	14	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:134257522A>G	uc001qhq.2	-	3	293	c.32T>C	c.(31-33)GTC>GCC	p.V11A	B3GAT1_uc001qhr.2_Missense_Mutation_p.V11A|B3GAT1_uc010scv.1_Missense_Mutation_p.V24A	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	11	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V11I(1)		ovary(1)	1	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)		CACGATGAGGACGATCGCTAG	0.627													G	134257522	A	G	134257522	3	3	236	1	0	0	0	0	1	0	0	0	1253	275	10	3	988	3	B3GAT1	11	134257522	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	136426	134257522	748994	664	119841											
CACNA2D4	93589	broad.mit.edu	37	chr12	2024025	2024025	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggggtgactgaccttctGcagcaagagagagcctgagt	15	8	1	5			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:2024025G>A	uc001qjp.2	-	2	535	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.Q102*	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	102	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	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)		CTGACCTTCTGCAGCAAGAGA	0.478													A	2024025	G	A	2024025	4	1	236	1	0	0	0	0	0	1	0	0	2551	1328	46	2	3257	2	CACNA2D4	12	2024025	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08		2024025	131827870	665	119842											
NRIP2	83714	broad.mit.edu	37	chr12	2943970	2943970	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcctggcttctccctcAtctctcctggcctcctgctt	6	19	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:2943970A>G	uc001qlc.2	-	1	252	c.180T>C	c.(178-180)GAT>GAC	p.D60D	NRIP2_uc010sed.1_Silent_p.D60D|uc009zdz.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	60					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTTCTCCCTCATCTCTCCTGG	0.667													G	2943970	A	G	2943970	2	3	236	1	0	0	0	0	0	0	0	1	10653	214	8	3		3	NRIP2	12	2943970	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	919945	2943970	130907925	666	119843											
DYRK4	8798	broad.mit.edu	37	chr12	4722772	4722772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggactgtctccagcaCggagctgacactgttcagct	11	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:4722772C>T	uc001qmx.2	+	13	1576	c.1416C>T	c.(1414-1416)CAC>CAT	p.H472H	DYRK4_uc001qmy.1_Silent_p.H471H|DYRK4_uc001qmz.1_Silent_p.H185H|DYRK4_uc001qna.1_Silent_p.H108H|DYRK4_uc010ser.1_Silent_p.H109H	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	472						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			GTCTCCAGCACGGAGCTGACA	0.537													T	4722772	C	T	4722772	2	4	236	1	0	0	0	0	0	0	0	1	4858	535	19	1		1	DYRK4	12	4722772	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1778802	4722772	129129123	667	119844											
CHD4	1108	broad.mit.edu	37	chr12	6686958	6686958	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaccgctcaccttaaacCttcgagctagaaatttattc	4	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:6686958C>A	uc001qpo.2	-	37	5518	c.5354G>T	c.(5353-5355)AGG>ATG	p.R1785M	CHD4_uc001qpn.2_Missense_Mutation_p.R1778M|CHD4_uc001qpp.2_Missense_Mutation_p.R1810M|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1785	Required for interaction with PCNT.				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						CACCTTAAACCTTCGAGCTAG	0.463													A	6686958	C	A	6686958	3	1	236	1	0	0	0	0	1	0	0	0	3327	681	24	5	400	5	CHD4	12	6686958	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1964186	6686958	127164937	668	119845											
CHD4	1108	broad.mit.edu	37	chr12	6708947	6708947	+	Frame_Shift_Del	DEL	G	G	-													tcagtcactcaccgtacaacGgggacagagccattcaccgt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:6708946_6708946CG>C	uc001qpo.3	-	9	1639	c.1475_1475CG>G	c.(1474-1476)cgtfs	p.R492fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.R485fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.R489fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACCGTACAACGGGGACAGAG	0.527													-	6708947	G	-	6708947	7	5	236	1	0	1	0	1	0	0	0	0	3327	1116	39	0	4388	0	CHD4	12	6708947	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	21989	6708947	127142948	669	119846											
USP5	8078	broad.mit.edu	37	chr12	6968673	6968673	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatcttccagaatgccccGacggaccctacccaggattt	8	14	1	2	rs143750403	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:6968673G>A	uc001qri.3	+	9	1157	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	USP5_uc001qrh.3_Silent_p.P366P	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	366					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						AGAATGCCCCGACGGACCCTA	0.537													A	6968673	G	A	6968673	2	1	236	1	0	0	0	0	0	0	0	1	17078	1045	37	1		1	USP5	12	6968673	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	259726	6968673	126883222	670	119847											
LPCAT3	10162	broad.mit.edu	37	chr12	7092599	7092600	+	Frame_Shift_Ins	INS	-	-	A													ttagtttactcaccaaagttINSaaaataagcaattgagaggc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:7092599_7092600insA	uc001qsi.2	-	2	366_367	c.252_253insT	c.(250-255)TTTAACfs	p.F84fs	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Intron|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	84_85	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1						TCACCAAAGTTAAAATAAGCAA	0.401													A	7092600	-	A	7092599	7	5	236	1	0	1	1	0	0	0	0	0	8912	1754	61	0	1254	0	LPCAT3	12	7092599	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	123926	7092599	126759296	671	119848	613	2									
LPCAT3	10162	broad.mit.edu	37	chr12	7092600	7092601	+	Frame_Shift_Ins	INS	-	-	A													tagtttactcaccaaagttaINSaaataagcaattgagaggcc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:7092599_7092600T>TA	uc001qsi.3	-	1	366_367	c.252_253A>TA	c.(250-255)tttaacfs	p.F84fs	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_Intron|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	84					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCACCAAAGTTAAAATAAGCAA	0.401													A	7092601	-	A	7092600	7	5	236	1	0	1	1	0	0	0	0	0	8912	359	13	0	1255	0	LPCAT3	12	7092600	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	7092600	126759295	672	119849	613	2									
A2M	2	broad.mit.edu	37	chr12	9251353	9251353	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctgaagctcaaatccacCtgtgaaattggaacaaaagg	11	8	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:9251353C>A	uc001qvk.1	-	15	1815	c.1702_splice	c.e15-1	p.V568_splice	A2M_uc009zgk.1_Splice_Site_p.V418_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor						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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TCAAATCCACCTGTGAAATTG	0.512													A	9251353	C	A	9251353	5	1	236	1	0	0	0	0	0	0	1	0	4	695	24	5	2811	5	A2M	12	9251353	Splice_Site	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2158753	9251353	124600542	673	119850											
TAS2R13	50838	broad.mit.edu	37	chr12	11061808	11061808	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgacccagtcaatgcagttGatcagtactataaatccatt	6	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:11061808G>A	uc001qzg.1	-	1	354	c.90C>T	c.(88-90)ATC>ATT	p.I30I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	30	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2						CAATGCAGTTGATCAGTACTA	0.403													A	11061808	G	A	11061808	2	1	236	1	0	0	0	0	0	0	0	1	15564	1280	45	4		4	TAS2R13	12	11061808	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1810455	11061808	122790087	674	119851											
BCL2L14	79370	broad.mit.edu	37	chr12	12247740	12247740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggctttaaggctgcccTtgtaatagacgtcacggcca	11	11	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:12247740T>C	uc001rac.2	+	5	1022	c.821T>C	c.(820-822)CTT>CCT	p.L274P	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.L274P|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	274					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AAGGCTGCCCTTGTAATAGAC	0.527													C	12247740	T	C	12247740	3	2	236	1	0	0	0	0	1	0	0	0	1372	1609	56	3	920	3	BCL2L14	12	12247740	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1185932	12247740	121604155	675	119852											
GRIN2B	2904	broad.mit.edu	37	chr12	13717350	13717350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgcagtcagaatgcgtgAagctgcggcggtgctctgag	15	8	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:13717350A>G	uc001rbt.2	-	13	3001	c.2822T>C	c.(2821-2823)TTC>TCC	p.F941S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	941	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAATGCGTGAAGCTGCGGCG	0.552													G	13717350	A	G	13717350	3	3	236	1	0	0	0	0	1	0	0	0	6780	246	9	3	1636	3	GRIN2B	12	13717350	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1469610	13717350	120134545	676	119853											
PLEKHA5	54477	broad.mit.edu	37	chr12	19522684	19522684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagttccatccactcagcCgcagctcacagaaggatcac	8	16	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:19522684C>T	uc001reb.2	+	25	3400	c.3314C>T	c.(3313-3315)CCG>CTG	p.P1105L	PLEKHA5_uc001rea.2_Missense_Mutation_p.P1163L|PLEKHA5_uc009zin.2_Missense_Mutation_p.P863L|PLEKHA5_uc010sif.1_Missense_Mutation_p.P1094L|PLEKHA5_uc010sig.1_Missense_Mutation_p.P1087L|PLEKHA5_uc009zio.2_Missense_Mutation_p.P371L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	1105							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCACTCAGCCGCAGCTCACA	0.403													T	19522684	C	T	19522684	3	4	236	1	0	0	0	0	1	0	0	0	12059	652	23	1	3730	1	PLEKHA5	12	19522684	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5805334	19522684	114329211	677	119854											
CMAS	55907	broad.mit.edu	37	chr12	22213859	22213859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagagcaaagagtattaAggtaaaaacaaataaacctt	7	5	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:22213859A>G	uc001rfm.2	+	5	866	c.787A>G	c.(787-789)AGA>GGA	p.R263G	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	263					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						AAGAGTATTAAGGTAAAAACA	0.323													G	22213859	A	G	22213859	3	3	236	1	0	0	0	0	1	0	0	0	3575	86	3	3	805	3	CMAS	12	22213859	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2691175	22213859	111638036	678	119855											
ITPR2	3709	broad.mit.edu	37	chr12	26568291	26568292	+	Frame_Shift_Ins	INS	-	-	A													ccatagtgaagtcatccttcINSaaaaaaaggaacccaataat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:26568291_26568292insA	uc001rhg.2	-	51	7667_7668	c.7250_7251insT	c.(7249-7251)TTGfs	p.L2417fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.L568fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2417	Extracellular (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AGTCATCCTTCAAAAAAAGGAA	0.411													A	26568292	-	A	26568291	7	5	236	1	0	1	1	0	0	0	0	0	7921	825	29	0	882	0	ITPR2	12	26568291	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	4354432	26568291	107283604	679	119856	614	2									
ITPR2	3709	broad.mit.edu	37	chr12	26568292	26568293	+	Frame_Shift_Ins	INS	-	-	A													catagtgaagtcatccttcaINSaaaaaaggaacccaataatg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:26568291_26568292C>CA	uc001rhg.3	-	50	7667_7668	c.7250_7251G>TG	c.(7249-7251)ttgfs	p.L2417fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.L568fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2417					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)					AGTCATCCTTCAAAAAAAGGAA	0.411													A	26568293	-	A	26568292	7	5	236	1	0	1	1	0	0	0	0	0	7921	131	5	0	883	0	ITPR2	12	26568292	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	26568292	107283603	680	119857	614	2									
REP15	387849	broad.mit.edu	37	chr12	27850003	27850003	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatcatctttggtatgccaGgaaagcctaaagacatcagg	9	8	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:27850003G>T	uc001rig.1	+	1	576	c.508G>T	c.(508-510)GGA>TGA	p.G170*		NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN	RAB15 effector protein	170						early endosome membrane				ovary(1)	1	Lung SC(9;0.0873)					TGGTATGCCAGGAAAGCCTAA	0.468													T	27850003	G	T	27850003	4	4	236	1	0	0	0	0	0	1	0	0	13226	1001	35	5	510	5	REP15	12	27850003	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1281711	27850003	106001892	681	119858											
FAR2	55711	broad.mit.edu	37	chr12	29462162	29462162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctaatggaatcattattgCggtatgtataatgatgaaga	9	4	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:29462162C>T	uc001ris.3	+	6	914	c.767C>T	c.(766-768)GCG>GTG	p.A256V	FAR2_uc001rit.2_Missense_Mutation_p.A256V|FAR2_uc009zjm.2_Missense_Mutation_p.A159V|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	256					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				0						ATCATTATTGCGGTATGTATA	0.303													T	29462162	C	T	29462162	3	4	236	1	0	0	0	0	1	0	0	0	5675	782	27	1	785	1	FAR2	12	29462162	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1612159	29462162	104389733	682	119859											
IPO8	10526	broad.mit.edu	37	chr12	30783861	30783861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttttcaaaggtgaagCctccctgttgttcaatcttc	7	10	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:30783861C>T	uc001rjd.2	-	25	3217	c.3047G>A	c.(3046-3048)GGC>GAC	p.G1016D	IPO8_uc001rje.1_3'UTR|IPO8_uc010sjt.1_Missense_Mutation_p.G811D	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	1016					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	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)					AAAGGTGAAGCCTCCCTGTTG	0.413													T	30783861	C	T	30783861	3	4	236	1	0	0	0	0	1	0	0	0	7798	739	26	2	70	2	IPO8	12	30783861	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1321699	30783861	103068034	683	119860											
PKP2	5318	broad.mit.edu	37	chr12	33031261	33031261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactaggagggcggcccGcctgctttcttggtggtgca	16	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:33031261G>A	uc001rlj.3	-	3	668	c.553C>T	c.(553-555)CGG>TGG	p.R185W	PKP2_uc001rlk.3_Missense_Mutation_p.R185W|PKP2_uc010skj.1_Missense_Mutation_p.R185W	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	185					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGGGCGGCCCGCCTGCTTTCT	0.622													A	33031261	G	A	33031261	3	1	236	1	0	0	0	0	1	0	0	0	11985	1086	38	1	2140	1	PKP2	12	33031261	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2247400	33031261	100820634	684	119861											
GXYLT1	283464	broad.mit.edu	37	chr12	42481629	42481629	+	Frame_Shift_Del	DEL	T	T	-													ggcataacgatctcttacacTttttgctagttgtttgataa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:42481628_42481628CT>C	uc001rms.4	-	7	1508	c.1283_1283AG>G	c.(1282-1284)agtfs	p.S428fs	GXYLT1_uc001rmt.4_Frame_Shift_Del_p.S397fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	428					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATCTCTTACACTTTTTGCTAG	0.328													-	42481629	T	-	42481629	7	5	236	1	0	1	0	1	0	0	0	0	6903	1609	56	0	44	0	GXYLT1	12	42481629	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	9450368	42481629	91370266	685	119862											
FAM113B	91523	broad.mit.edu	37	chr12	47629304	47629304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccagtgcctgggccaggTgctgcccgagtcttgcctcc	13	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:47629304T>C	uc001rpn.2	+	4	1189	c.458T>C	c.(457-459)GTG>GCG	p.V153A	FAM113B_uc010slj.1_Missense_Mutation_p.V33A|FAM113B_uc001rpq.2_Missense_Mutation_p.V153A	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	153							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					CTGGGCCAGGTGCTGCCCGAG	0.612													C	47629304	T	C	47629304	3	2	236	1	0	0	0	0	1	0	0	0	5402	1696	59	3	460	3	FAM113B	12	47629304	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	5147675	47629304	86222591	686	119863											
COL2A1	1280	broad.mit.edu	37	chr12	48380149	48380149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggaccgatgggcccaacGccaccaggctctccacgggc	15	16	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:48380149G>A	uc001rqu.2	-	23	1678	c.1497C>T	c.(1495-1497)GGC>GGT	p.G499G	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G430G	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	499	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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGCCCAACGCCACCAGGCT	0.622													A	48380149	G	A	48380149	2	1	236	1	0	0	0	0	0	0	0	1	3687	1074	38	1		1	COL2A1	12	48380149	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	750845	48380149	85471746	687	119864											
H1FNT	341567	broad.mit.edu	37	chr12	48723477	48723477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagaaagccgggacgcGcgaggcaagaggagggcacg	19	10	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:48723477G>A	uc001rrm.2	+	1	715	c.403G>A	c.(403-405)GCG>ACG	p.A135T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	135	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						GCCGGGACGCGCGAGGCAAGA	0.746													A	48723477	G	A	48723477	3	1	236	1	0	0	0	0	1	0	0	0	6921	1087	38	1	405	1	H1FNT	12	48723477	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	343328	48723477	85128418	688	119865											
TROAP	10024	broad.mit.edu	37	chr12	49723227	49723227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgctctgaagatcctgCcctgccctgggtaagtatca	10	13	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:49723227C>T	uc001rtx.3	+	11	1321	c.1154C>T	c.(1153-1155)GCC>GTC	p.A385V	TROAP_uc009zlh.2_Missense_Mutation_p.A385V|TROAP_uc001rty.2_Missense_Mutation_p.A93V	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	385					cell adhesion	cytoplasm				ovary(1)	1						GAAGATCCTGCCCTGCCCTGG	0.597													T	49723227	C	T	49723227	3	4	236	1	0	0	0	0	1	0	0	0	16572	739	26	2	1294	2	TROAP	12	49723227	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	999750	49723227	84128668	689	119866											
KCNH3	23416	broad.mit.edu	37	chr12	49938006	49938006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctgctgcgcctgctgCgcctgcttccgcggctggac	14	17	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:49938006C>T	uc001ruh.1	+	7	1290	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C	KCNH3_uc010smj.1_Missense_Mutation_p.R284C	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	344	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						gcgcctgctgcgcctgctTCC	0.498													T	49938006	C	T	49938006	3	4	236	1	0	0	0	0	1	0	0	0	8033	768	27	1	1056	1	KCNH3	12	49938006	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	214779	49938006	83913889	690	119867											
FAM186B	84070	broad.mit.edu	37	chr12	49993929	49993931	+	In_Frame_Del	DEL	CTC	CTC	-													ttctgccgctgctgccacatCtcctcctcctccagccacag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:49993928_49993930TCTC>T	uc001ruo.3	-	3	1666_1668	c.1493_1495GAGA>A	c.(1492-1497)gagatg>gAtg	p.498_499EM>D	FAM186B_uc010smk.2_In_Frame_Del_p.408_409EM>D	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	498						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						TGCTGCCACATCTCCTCCTCCTC	0.635													-	49993931	CTC	-	49993929	7	5	236	1	0	1	0	1	0	0	0	0	5512	912	32	0	1203	0	FAM186B	12	49993929	In_Frame_Del	DEL	CTC	TCGA-F1-6874-01A-11D-1882-08	55923	49993929	83857966	691	119868											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-													agtcagagaccaccagctatCccccccatgccacctggcat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	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						CCACCAGCTATCCCCCCCATG	0.607													-	50025258	C	-	50025258	7	5	236	1	0	1	0	1	0	0	0	0	12572	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	31329	50025258	83826637	692	119869											
KRT84	3890	broad.mit.edu	37	chr12	52774246	52774246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcgcacagctgccgcGccatgtcctgcttggcctgc	12	16	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:52774246G>A	uc001sah.1	-	7	1373	c.1325C>T	c.(1324-1326)GCG>GTG	p.A442V		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	442	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCTGCCGCGCCATGTCCTG	0.657											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	52774246	G	A	52774246	3	1	236	1	0	0	0	0	1	0	0	0	8498	1087	38	1	489	1	KRT84	12	52774246	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2748988	52774246	81077649	693	119870											
ITGB7	3695	broad.mit.edu	37	chr12	53585371	53585371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgtctgcctcttgaaagCgaggattgatggtggtcgtg	15	7	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:53585371C>T	uc009zmv.2	-	15	2437	c.2366G>A	c.(2365-2367)CGC>CAC	p.R789H	ITGB7_uc001scc.2_Missense_Mutation_p.R789H|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	789	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						CTCTTGAAAGCGAGGATTGAT	0.507													T	53585371	C	T	53585371	3	4	236	1	0	0	0	0	1	0	0	0	7900	768	27	1	34	1	ITGB7	12	53585371	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	811125	53585371	80266524	694	119871											
ITGB7	3695	broad.mit.edu	37	chr12	53589929	53589929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccccagctgtatggaatgTgtcgtctgaagtgaacacca	11	10	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:53589929T>C	uc009zmv.2	-	6	942	c.871A>G	c.(871-873)ACA>GCA	p.T291A	ITGB7_uc001scc.2_Missense_Mutation_p.T291A|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	291	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						GTATGGAATGTGTCGTCTGAA	0.572													C	53589929	T	C	53589929	3	2	236	1	0	0	0	0	1	0	0	0	7900	1696	59	3	1565	3	ITGB7	12	53589929	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	4558	53589929	80261966	695	119872											
OR10P1	121130	broad.mit.edu	37	chr12	56031570	56031570	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttcggaacaaggacgtgAggagggccctgcgacacttg	14	12	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56031570A>G	uc010spq.1	+	1	895	c.895A>G	c.(895-897)AGG>GGG	p.R299G		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						CAAGGACGTGAGGAGGGCCCT	0.577													G	56031570	A	G	56031570	3	3	236	1	0	0	0	0	1	0	0	0	10915	295	11	3	897	3	OR10P1	12	56031570	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	2441641	56031570	77820325	696	119873											
ITGA7	3679	broad.mit.edu	37	chr12	56088256	56088256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctctacctccagttcCgtggtctcaatgctgatccc	8	15	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56088256C>T	uc001shh.2	-	17	2560	c.2340G>A	c.(2338-2340)ACG>ACA	p.T780T	ITGA7_uc001shg.2_Silent_p.T776T|ITGA7_uc010sps.1_Silent_p.T683T|ITGA7_uc009znw.2_Silent_p.T23T|ITGA7_uc009znx.2_Silent_p.T657T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	820	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CCTCCAGTTCCGTGGTCTCAA	0.577													T	56088256	C	T	56088256	2	4	236	1	0	0	0	0	0	0	0	1	7881	639	23	1		1	ITGA7	12	56088256	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	56686	56088256	77763639	697	119874											
ANKRD52	283373	broad.mit.edu	37	chr12	56639211	56639211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgctgtaatccaccccgGcatccaggggatctgtggaa	11	13	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56639211G>A	uc001skm.3	-	21	2444	c.2354C>T	c.(2353-2355)GCC>GTC	p.A785V		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	785							protein binding			ovary(2)	2						ATCCACCCCGGCATCCAGGGG	0.617													A	56639211	G	A	56639211	3	1	236	1	0	0	0	0	1	0	0	0	678	1203	42	2	908	2	ANKRD52	12	56639211	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	550955	56639211	77212684	698	119875											
PAN2	9924	broad.mit.edu	37	chr12	56720627	56720627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcagaatccccaaaggCcagagcctgcttgctggctg	11	15	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56720627C>T	uc001skx.2	-	7	1409	c.1036G>A	c.(1036-1038)GCC>ACC	p.A346T	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.A346T|PAN2_uc001sky.2_Missense_Mutation_p.A346T	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	346					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			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						TCCCCAAAGGCCAGAGCCTGC	0.557													T	56720627	C	T	56720627	3	4	236	1	0	0	0	0	1	0	0	0	11414	739	26	2	2652	2	PAN2	12	56720627	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	81416	56720627	77131268	699	119876											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572243	+	Frame_Shift_Ins	INS	-	-	G													gtttgcagtgacgctgtacgINSggggggaggtctactggact					rs139915490		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:57572241_57572242C>CG	uc001snd.3	+	26	4927_4928	c.4461_4462C>CG	c.(4459-4464)tacgggfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	TGACGCTGTACGGGGGGGAGGT	0.589													G	57572243	-	G	57572242	7	5	236	1	0	1	1	0	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	851615	57572242	76279653	700	119877											
ARHGAP9	64333	broad.mit.edu	37	chr12	57872323	57872324	+	Splice_Site	DEL	TG	TG	-													tcagaagagctgtgactcacTgtgctggcactggcttctga							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:57872322_57872323CTG>C	uc001sod.3	-	6	940	c.747_splice	c.e6+1	p.T249_splice	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Splice_Site_p.T178_splice|ARHGAP9_uc001soc.3_Splice_Site_p.T178_splice|ARHGAP9_uc001soe.1_Splice_Site_p.T257_splice|ARHGAP9_uc010sro.1_Splice_Site_p.T178_splice	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	178					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)			CTGTGACTCACTGTGCTGGCAC	0.559													-	57872324	TG	-	57872323	8	5	236	1	0	1	0	1	0	0	1	0	889	1594	55	0	1725	0	ARHGAP9	12	57872323	Splice_Site	DEL	TG	TCGA-F1-6874-01A-11D-1882-08	300081	57872323	75979572	701	119878											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	236	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	49078	57921401	75930494	702	119879											
CTDSP2	10106	broad.mit.edu	37	chr12	58240195	58240195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcttccctccgcgcctgGgtgatgatggagccgtgttc	14	13	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:58240195G>A	uc001sqm.2	-	1	553	c.24C>T	c.(22-24)ACC>ACT	p.T8T	CTDSP2_uc009zqf.2_5'Flank|CTDSP2_uc009zqg.2_Silent_p.T8T	NM_005730	NP_005721	O14595	CTDS2_HUMAN	nuclear LIM interactor-interacting factor 2	8					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			central_nervous_system(1)	1	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCCGCGCCTGGGTGATGATGG	0.458													A	58240195	G	A	58240195	2	1	236	1	0	0	0	0	0	0	0	1	4004	1219	43	4		4	CTDSP2	12	58240195	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	318794	58240195	75611700	703	119880											
AVPR1A	552	broad.mit.edu	37	chr12	63543831	63543831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttttggaaggccacaccCgcttgctctgcacccttgct	8	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:63543831C>T	uc001sro.1	-	1	2760	c.786G>A	c.(784-786)GCG>GCA	p.A262A		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	262	Cytoplasmic (Potential).				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				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGGCCACACCCGCTTGCTCTG	0.587													T	63543831	C	T	63543831	2	4	236	1	0	0	0	0	0	0	0	1	1231	639	23	1		1	AVPR1A	12	63543831	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5303636	63543831	70308064	704	119881											
GNS	2799	broad.mit.edu	37	chr12	65130789	65130789	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaggcacctaccttgcTtgtctgatttggtttgatcc	9	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:65130789T>G	uc001ssg.3	-	9	1263	c.1093A>C	c.(1093-1095)AGC>CGC	p.S365R	GNS_uc001ssf.2_Missense_Mutation_p.S309R|GNS_uc010ssq.1_Missense_Mutation_p.S397R|GNS_uc010ssr.1_Missense_Mutation_p.S345R	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	365						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CCTACCTTGCTTGTCTGATTT	0.458													G	65130789	T	G	65130789	3	3	236	1	0	0	0	0	1	0	0	0	6550	1609	56	5	589	5	GNS	12	65130789	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1586958	65130789	68721106	705	119882											
LGR5	8549	broad.mit.edu	37	chr12	71977919	71977920	+	Frame_Shift_Del	DEL	CT	CT	-													cagcaagtatggcgcctcccCtctctgcctgcctttgcctt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:71977918_71977919CCT>C	uc001swl.3	+	17	2176_2177	c.2128_2129CCT>C	c.(2128-2130)cctfs	p.P710fs	LGR5_uc001swm.3_Frame_Shift_Del_p.P686fs|LGR5_uc021rar.1_Frame_Shift_Del_p.P638fs|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	710						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						TGGCGCCTCCCCTCTCTGCCTG	0.554													-	71977920	CT	-	71977919	7	5	236	1	0	1	0	1	0	0	0	0	8757	681	24	0	2199	0	LGR5	12	71977919	Frame_Shift_Del	DEL	CT	TCGA-F1-6874-01A-11D-1882-08	6847130	71977919	61873976	706	119883											
CCDC41	51134	broad.mit.edu	37	chr12	94725476	94725477	+	Frame_Shift_Ins	INS	-	-	T													tttaataagaaccacttgccINStttttctgggcaattgcagc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:94725476_94725477insT	uc001tdd.2	-	14	2292_2293	c.1706_1707insA	c.(1705-1707)AAGfs	p.K569fs	CCDC41_uc001tde.2_Frame_Shift_Ins_p.K569fs|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	561	Potential.										0						AACCACTTGCCTTTTTCTGGGC	0.262													T	94725477	-	T	94725476	7	5	236	1	0	1	1	0	0	0	0	0	2813	695	24	0	414	0	CCDC41	12	94725476	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	22747557	94725476	39126419	707	119884	615	2									
CCDC41	51134	broad.mit.edu	37	chr12	94725477	94725478	+	Splice_Site	INS	-	-	T													ttaataagaaccacttgcctINSttttctgggcaattgcagct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:94725476_94725477C>CT	uc001tdd.3	-	14	2293	c.1707_splice	c.e14+1	p.K569_splice	CCDC41_uc001tde.3_Splice_Site_p.K569_splice|CCDC41_uc009zsw.1_Splice_Site	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	561										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AACCACTTGCCTTTTTCTGGGC	0.485													T	94725478	-	T	94725477	8	5	236	1	0	1	1	0	0	0	1	0	2813	1623	56	0	415	0	CCDC41	12	94725477	Splice_Site	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	94725477	39126418	708	119885	615	2									
TMPO	7112	broad.mit.edu	37	chr12	98921672	98921673	+	Frame_Shift_Ins	INS	-	-	A													tttgtttacagaaagccacaINSaaaaaaactgataaacccag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:98921671_98921672C>CA	uc001tfh.2	+	1	582_583	c.287_288C>CA	c.(286-288)acafs	p.T96fs	TMPO_uc001tfi.2_Frame_Shift_Ins_p.T96fs|TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfj.3_Frame_Shift_Ins_p.T96fs|TMPO_uc001tfk.3_Frame_Shift_Ins_p.T96fs	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	96	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						CAGAAAGCCACAAAAAAAACTG	0.332													A	98921673	-	A	98921672	7	5	236	1	0	1	1	0	0	0	0	0	16234	117	5	0	294	0	TMPO	12	98921672	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	4196195	98921672	34930223	709	119886											
ACTR6	64431	broad.mit.edu	37	chr12	100613799	100613799	+	Frame_Shift_Del	DEL	T	T	-													tttaaagaaatgcagccgcaTttttttaagaacattgtctt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:100613798_100613798AT>A	uc001thb.1	+	9	991	c.935_935AT>A	c.(934-936)catfs	p.H312fs	ACTR6_uc001thc.1_Frame_Shift_Del_p.H204fs|ACTR6_uc009ztu.2_Frame_Shift_Del_p.H117fs|ACTR6_uc001the.1_Frame_Shift_Del_p.H230fs|AX746635_uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	Homo sapiens ARP6 actin-related protein 6 homolog (yeast) (ACTR6), mRNA.	312						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						ATGCAGCCGCATTTTTTTAAG	0.373													-	100613799	T	-	100613799	7	5	236	1	0	1	0	1	0	0	0	0	216	1490	52	0	974	0	ACTR6	12	100613799	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	1692127	100613799	33238096	710	119887											
SPIC	121599	broad.mit.edu	37	chr12	101876581	101876581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatatagaacagtgctgcGgacttctattttgaaggaaa	9	5	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:101876581G>A	uc001tid.2	+	5	381	c.222G>A	c.(220-222)GCG>GCA	p.A74A	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Silent_p.A73A	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	74						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						ACAGTGCTGCGGACTTCTATT	0.244													A	101876581	G	A	101876581	2	1	236	1	0	0	0	0	0	0	0	1	15050	1103	39	1		1	SPIC	12	101876581	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1262782	101876581	31975314	711	119888											
PAH	5053	broad.mit.edu	37	chr12	103271264	103271264	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcatccagttccgcTccatagctgagaatctgatt	9	11	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:103271264T>G	uc001tjq.1	-	5	889	c.417A>C	c.(415-417)GGA>GGC	p.G139G	PAH_uc010swc.1_Silent_p.G139G	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	139					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCAGTTCCGCTCCATAGCTGA	0.403													G	103271264	T	G	103271264	2	3	236	1	0	0	0	0	0	0	0	1	11394	1538	54	5		5	PAH	12	103271264	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1394683	103271264	30580631	712	119889											
FOXN4	121643	broad.mit.edu	37	chr12	109717585	109717585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgctgtgtagagacccGtcacctgcaagtctgggaag	13	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:109717585G>A	uc001toe.3	-	10	1550	c.1445C>T	c.(1444-1446)ACG>ATG	p.T482M	FOXN4_uc009zvg.2_Missense_Mutation_p.T279M|FOXN4_uc001tof.3_Missense_Mutation_p.T302M	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	482					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			ovary(1)|lung(1)	2						GTAGAGACCCGTCACCTGCAA	0.647													A	109717585	G	A	109717585	3	1	236	1	0	0	0	0	1	0	0	0	6022	1145	40	1	112	1	FOXN4	12	109717585	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6446321	109717585	24134310	713	119890											
MED13L	23389	broad.mit.edu	37	chr12	116404042	116404042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagaaagaagacgctcacCctggctctgaaaaacaaaaa	7	10	3	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:116404042C>T	uc001tvw.2	-	29	6287	c.6232G>A	c.(6232-6234)GGT>AGT	p.G2078S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2078					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGACGCTCACCCTGGCTCTGA	0.443													T	116404042	C	T	116404042	3	4	236	1	0	0	0	0	1	0	0	0	9431	623	22	4	412	4	MED13L	12	116404042	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6686457	116404042	17447853	714	119891											
KSR2	283455	broad.mit.edu	37	chr12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-													cggcgtggcactaggagggaGggggggtgctggcgaggagg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:117977604_117977604AG>A	uc001two.2	-	9	1575	c.1520_1520CT>T	c.(1519-1521)ctcfs	p.L507fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	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)					ACTAGGAGGGAGGGGGGGTGC	0.637													-	117977605	G	-	117977605	7	5	236	1	0	1	0	1	0	0	0	0	8582	1000	35	0	1290	0	KSR2	12	117977605	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1573563	117977605	15874290	715	119892											
VSIG10	54621	broad.mit.edu	37	chr12	118517177	118517177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccatgcagctggcgcccGactctggcccaactatgtgg	12	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:118517177G>A	uc001tws.2	-	4	1233	c.899C>T	c.(898-900)TCG>TTG	p.S300L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	300	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane					0						GCTGGCGCCCGACTCTGGCCC	0.532													A	118517177	G	A	118517177	3	1	236	1	0	0	0	0	1	0	0	0	17220	1059	37	1	747	1	VSIG10	12	118517177	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	539572	118517177	15334718	716	119893											
SRRM4	84530	broad.mit.edu	37	chr12	119563203	119563203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatctcgaagccggccccGaaagtctcaccgccaccgcc	9	18	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:119563203G>A	uc001txa.1	+	7	825	c.533G>A	c.(532-534)CGA>CAA	p.R178Q		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	178	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						AGCCGGCCCCGAAAGTCTCAC	0.463													A	119563203	G	A	119563203	3	1	236	1	0	0	0	0	1	0	0	0	15170	1058	37	1	559	1	SRRM4	12	119563203	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1046026	119563203	14288692	717	119894											
CCDC60	160777	broad.mit.edu	37	chr12	119968783	119968783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaaacctggacttgcGgattcgaccccatgtcctcc	10	13	0	1	rs148262586	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:119968783G>A	uc001txe.2	+	13	1931	c.1466G>A	c.(1465-1467)CGG>CAG	p.R489Q	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	489										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTGGACTTGCGGATTCGACCC	0.512													A	119968783	G	A	119968783	3	1	236	1	0	0	0	0	1	0	0	0	2831	1116	39	1	1516	1	CCDC60	12	119968783	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	405580	119968783	13883112	718	119895											
CIT	11113	broad.mit.edu	37	chr12	120135487	120135487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggtggacgggccccgGtggtgttcagtgccggactc	19	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:120135487G>A	uc001txi.1	-	45	5786	c.5733C>T	c.(5731-5733)CAC>CAT	p.H1911H	CIT_uc001txh.1_Silent_p.H1430H|CIT_uc001txj.1_Silent_p.H1953H	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1911					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACGGGCCCCGGTGGTGTTCAG	0.532													A	120135487	G	A	120135487	2	1	236	1	0	0	0	0	0	0	0	1	3438	1252	44	4		4	CIT	12	120135487	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	166704	120135487	13716408	719	119896											
CIT	11113	broad.mit.edu	37	chr12	120172001	120172001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgtccagcattctctgCagctctcgaacccgacactc	8	16	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:120172001C>T	uc001txi.1	-	25	3245	c.3192G>A	c.(3190-3192)CTG>CTA	p.L1064L	CIT_uc001txh.1_Silent_p.L598L|CIT_uc001txj.1_Silent_p.L1106L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1064	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCATTCTCTGCAGCTCTCGAA	0.557													T	120172001	C	T	120172001	2	4	236	1	0	0	0	0	0	0	0	1	3438	697	25	2		2	CIT	12	120172001	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	36514	120172001	13679894	720	119897											
CCDC64	92558	broad.mit.edu	37	chr12	120518704	120518704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttaggtgacactgctgaGtgtggagatgactgccctaa	13	8	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:120518704G>A	uc001txl.1	+	7	1347	c.1322G>A	c.(1321-1323)AGT>AAT	p.S441N	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.S112N|CCDC64_uc010szf.1_Missense_Mutation_p.S138N	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	441	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACTGCTGAGTGTGGAGATG	0.527													A	120518704	G	A	120518704	3	1	236	1	0	0	0	0	1	0	0	0	2835	1029	36	4	1348	4	CCDC64	12	120518704	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	346703	120518704	13333191	721	119898											
OASL	8638	broad.mit.edu	37	chr12	121476748	121476748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcctggaggctggtgtGctatacagttcctgcatcag	12	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:121476748G>A	uc001tzj.1	-	1	33	c.27C>T	c.(25-27)AGC>AGT	p.S9S	OASL_uc001tzk.1_Silent_p.S9S	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	9					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCTGGTGTGCTATACAGTT	0.612													A	121476748	G	A	121476748	2	1	236	1	0	0	0	0	0	0	0	1	10802	1310	46	2		2	OASL	12	121476748	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	958044	121476748	12375147	722	119899											
KDM2B	84678	broad.mit.edu	37	chr12	121891034	121891034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtccgcaggcaggcctcGcacttgcggcatcgcgtccg	14	16	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:121891034G>A	uc001uat.2	-	13	1952	c.1848C>T	c.(1846-1848)TGC>TGT	p.C616C	KDM2B_uc001uaq.2_Silent_p.C56C|KDM2B_uc010szy.1_Silent_p.C56C|KDM2B_uc001uar.2_Silent_p.C207C|KDM2B_uc001uas.2_Silent_p.C585C|KDM2B_uc001uau.2_Silent_p.C499C	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	616	CXXC-type.				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			ovary(1)|skin(1)	2						GGCAGGCCTCGCACTTGCGGC	0.697													A	121891034	G	A	121891034	2	1	236	1	0	0	0	0	0	0	0	1	8125	1079	38	1		1	KDM2B	12	121891034	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	414286	121891034	11960861	723	119900											
MORN3	283385	broad.mit.edu	37	chr12	122091114	122091114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatggaagaaacgccccGccccgttcttcatgcctctc	8	17	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:122091114G>A	uc001uax.2	-	4	686	c.515C>T	c.(514-516)GCG>GTG	p.A172V	MORN3_uc001uay.2_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	172	MORN 6.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GAAACGCCCCGCCCCGTTCTT	0.587													A	122091114	G	A	122091114	3	1	236	1	0	0	0	0	1	0	0	0	9709	1087	38	1	215	1	MORN3	12	122091114	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	200080	122091114	11760781	724	119901											
DDX55	57696	broad.mit.edu	37	chr12	124103353	124103353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtccaagcttatgcaaaGcatgaatgcaacctgatttt	7	8	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:124103353G>A	uc001ufi.2	+	12	1326	c.1302G>A	c.(1300-1302)AAG>AAA	p.K434K	DDX55_uc001ufh.2_Silent_p.K287K|DDX55_uc001ufk.2_Silent_p.K287K|DDX55_uc001ufl.2_Silent_p.K41K	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	434							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CTTATGCAAAGCATGAATGCA	0.418											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	124103353	G	A	124103353	2	1	236	1	0	0	0	0	0	0	0	1	4373	962	34	2		2	DDX55	12	124103353	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2012239	124103353	9748542	725	119902											
DNAH10	196385	broad.mit.edu	37	chr12	124298123	124298123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccaagtcctgggtgatttCgcttggaaaacttctcaatg	10	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:124298123C>T	uc001uft.3	+	19	3228	c.3203C>T	c.(3202-3204)TCG>TTG	p.S1068L	DNAH10_uc010tav.1_Missense_Mutation_p.S610L|DNAH10_uc010taw.1_Missense_Mutation_p.S553L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1068	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TGGGTGATTTCGCTTGGAAAA	0.443													T	124298123	C	T	124298123	3	4	236	1	0	0	0	0	1	0	0	0	4598	893	31	1	3277	1	DNAH10	12	124298123	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	194770	124298123	9553772	726	119903											
NCOR2	9612	broad.mit.edu	37	chr12	124885065	124885065	+	Frame_Shift_Del	DEL	G	G	-													acccagctcggcgctctgctGgggggtgatggcctcctcgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:124885064_124885064TG>T	uc021rga.1	-	14	1913	c.1796_1796CA>A	c.(1795-1797)cagfs	p.Q599fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.Q598fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.Q598fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.Q599fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.Q599fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	599					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|Notch binding|histone deacetylase 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)		GGCGCTCTGCTGGGGGGTGAT	0.622													-	124885065	G	-	124885065	7	5	236	1	0	1	0	1	0	0	0	0	10236	1357	47	0	5905	0	NCOR2	12	124885065	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	586942	124885065	8966830	727	119904											
TMEM132D	121256	broad.mit.edu	37	chr12	130184678	130184678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccctccggctggtccacGgacttcctcctcccggcaac	9	20	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:130184678G>A	uc009zyl.1	-	2	973	c.645C>T	c.(643-645)TCC>TCT	p.S215S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	215	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		GCTGGTCCACGGACTTCCTCC	0.692													A	130184678	G	A	130184678	2	1	236	1	0	0	0	0	0	0	0	1	16044	1103	39	1		1	TMEM132D	12	130184678	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	5299613	130184678	3667217	728	119905											
RIMBP2	23504	broad.mit.edu	37	chr12	130884240	130884240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccctttttgcctttgagCgcattggcgtatcttgagag	10	9	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:130884240C>T	uc001uil.2	-	18	3280	c.3116G>A	c.(3115-3117)CGC>CAC	p.R1039H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1039						cell junction|synapse		p.R1039H(1)		upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		TGCCTTTGAGCGCATTGGCGT	0.418													T	130884240	C	T	130884240	3	4	236	1	0	0	0	0	1	0	0	0	13363	768	27	1	50	1	RIMBP2	12	130884240	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	699562	130884240	2967655	729	119906											
PSPC1	55269	broad.mit.edu	37	chr13	20346577	20346577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactggagaaaggttcttgAcagtcaaggctgctccatgt	11	9	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:20346577A>G	uc001uml.2	-	2	665	c.479T>C	c.(478-480)GTC>GCC	p.V160A	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	160	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		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)		AAGGTTCTTGACAGTCAAGGC	0.493													G	20346577	A	G	20346577	3	3	236	1	0	0	0	0	1	0	0	0	12716	275	10	3	1124	3	PSPC1	13	20346577	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08		20346577	94823301	730	119907											
ATP12A	479	broad.mit.edu	37	chr13	25264573	25264573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaggaggagaccagatccCtgcagacatcagggtgctgt	13	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:25264573C>A	uc001upp.2	+	6	831	c.644C>A	c.(643-645)CCT>CAT	p.P215H	ATP12A_uc010aaa.2_Missense_Mutation_p.P215H	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	215	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACCAGATCCCTGCAGACATC	0.572													A	25264573	C	A	25264573	3	1	236	1	0	0	0	0	1	0	0	0	1122	681	24	5	666	5	ATP12A	13	25264573	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4917996	25264573	89905305	731	119908											
KATNAL1	84056	broad.mit.edu	37	chr13	30782714	30782714	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccatccatttttcatacTtctccaagtctgcagcagag	5	13	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:30782714T>G	uc001uss.2	-	11	1537	c.1436A>C	c.(1435-1437)AAG>ACG	p.K479T	KATNAL1_uc001ust.2_Missense_Mutation_p.K479T	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	479						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTTTTCATACTTCTCCAAGTC	0.368													G	30782714	T	G	30782714	3	3	236	1	0	0	0	0	1	0	0	0	7985	1609	56	5	40	5	KATNAL1	13	30782714	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	5518141	30782714	84387164	732	119909											
NUFIP1	26747	broad.mit.edu	37	chr13	45533698	45533698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgaatgtctggacatcCccttcatcttgctggagtaa	9	9	3	1	rs142430693		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:45533698C>A	uc001uzp.2	-	7	881	c.839G>T	c.(838-840)GGG>GTG	p.G280V		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	280					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				0		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)		TCTGGACATCCCCTTCATCTT	0.378													A	45533698	C	A	45533698	3	1	236	1	0	0	0	0	1	0	0	0	10748	623	22	5	664	5	NUFIP1	13	45533698	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	14750984	45533698	69636180	733	119910											
SPERT	220082	broad.mit.edu	37	chr13	46288456	46288456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctcatcgaggagctctaCgccttcatgccggccaggag	12	13	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:46288456C>T	uc001van.1	+	3	1376	c.1296C>T	c.(1294-1296)TAC>TAT	p.Y432Y	SPERT_uc001vao.2_Silent_p.Y396Y	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	432						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		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)		AGGAGCTCTACGCCTTCATGC	0.622													T	46288456	C	T	46288456	2	4	236	1	0	0	0	0	0	0	0	1	15038	547	19	1		1	SPERT	13	46288456	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	754758	46288456	68881422	734	119911											
ATP7B	540	broad.mit.edu	37	chr13	52515271	52515271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcgtggtctgtcatagCgtcactgacatcgctagaaa	9	11	4	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:52515271C>T	uc001vfw.2	-	16	3659	c.3502G>A	c.(3502-3504)GCT>ACT	p.A1168T	ATP7B_uc010adv.2_Missense_Mutation_p.A738T|ATP7B_uc001vfx.2_Missense_Mutation_p.A961T|ATP7B_uc001vfy.2_Missense_Mutation_p.A1057T|ATP7B_uc010tgt.1_Missense_Mutation_p.A1103T|ATP7B_uc010tgu.1_Missense_Mutation_p.A1120T|ATP7B_uc010tgv.1_Missense_Mutation_p.A1090T|ATP7B_uc001vfv.2_Missense_Mutation_p.A440T|ATP7B_uc010tgs.1_Missense_Mutation_p.A379T	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1168	Cytoplasmic (Potential).		A -> S (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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		TCTGTCATAGCGTCACTGACA	0.498									Wilson_disease				T	52515271	C	T	52515271	3	4	236	1	0	0	0	0	1	0	0	0	1191	768	27	1	919	1	ATP7B	13	52515271	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6226815	52515271	62654607	735	119912											
PCDH8	5100	broad.mit.edu	37	chr13	53418722	53418722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttcattggctcccttcttCggggacaggtacctgccagg	11	12	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:53418722C>T	uc001vhi.2	-	3	3389	c.3186G>A	c.(3184-3186)CCG>CCA	p.P1062P	PCDH8_uc001vhj.2_Silent_p.P965P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1062	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		CTCCCTTCTTCGGGGACAGGT	0.552													T	53418722	C	T	53418722	2	4	236	1	0	0	0	0	0	0	0	1	11517	871	31	1		1	PCDH8	13	53418722	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	903451	53418722	61751156	736	119913											
PCDH8	5100	broad.mit.edu	37	chr13	53419757	53419757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttccaaaacccggggagGcaccgtagggctgcagcagg	14	13	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:53419757G>A	uc001vhi.2	-	2	2845	c.2642C>T	c.(2641-2643)GCC>GTC	p.A881V	PCDH8_uc001vhj.2_Missense_Mutation_p.A784V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	881	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		ACCCGGGGAGGCACCGTAGGG	0.562													A	53419757	G	A	53419757	3	1	236	1	0	0	0	0	1	0	0	0	11517	1203	42	2	578	2	PCDH8	13	53419757	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1035	53419757	61750121	737	119914											
DIS3	22894	broad.mit.edu	37	chr13	73335641	73335641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcttcacttactattcCtttgcttttgaagaataact	5	9	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:73335641C>T	uc001vix.3	-	19	2904	c.2530G>A	c.(2530-2532)GGA>AGA	p.G844R	DIS3_uc001viy.3_Missense_Mutation_p.G814R|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	844					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)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTACTATTCCTTTGCTTTTG	0.224										Multiple Myeloma(4;0.011)			T	73335641	C	T	73335641	3	4	236	1	0	0	0	0	1	0	0	0	4535	690	24	4	358	4	DIS3	13	73335641	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	19915884	73335641	41834237	738	119915											
CLN5	1203	broad.mit.edu	37	chr13	77570161	77570161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgacctgaaatggatgCccctttctggtgtaatcaag	9	11	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:77570161C>T	uc001vkc.2	+	3	639	c.611C>T	c.(610-612)GCC>GTC	p.A204V		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	155					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GAAATGGATGCCCCTTTCTGG	0.418													T	77570161	C	T	77570161	3	4	236	1	0	0	0	0	1	0	0	0	3544	739	26	2	621	2	CLN5	13	77570161	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4234520	77570161	37599717	739	119916											
IPO5	3843	broad.mit.edu	37	chr13	98641394	98641394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaaaatgtgggactgcGggaagctgcccttcacattt	10	11	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:98641394G>T	uc001vnf.1	+	4	508	c.443G>T	c.(442-444)CGG>CTG	p.R148L	IPO5_uc001vne.2_Missense_Mutation_p.R166L|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.R88L	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	148					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			ovary(1)|lung(1)|skin(1)	3						GTGGGACTGCGGGAAGCTGCC	0.378													T	98641394	G	T	98641394	3	4	236	1	0	0	0	0	1	0	0	0	7796	1116	39	5	515	5	IPO5	13	98641394	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	21071233	98641394	16528484	740	119917											
ARGLU1	55082	broad.mit.edu	37	chr13	107211856	107211856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaactgcttttccatgatgCgtttggcttcctccaccctt	7	14	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:107211856C>T	uc001vqk.3	-	2	744	c.497G>A	c.(496-498)CGC>CAC	p.R166H	ARGLU1_uc010age.1_5'UTR	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	166	Glu-rich.										0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTCCATGATGCGTTTGGCTTC	0.478													T	107211856	C	T	107211856	3	4	236	1	0	0	0	0	1	0	0	0	860	768	27	1	336	1	ARGLU1	13	107211856	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	8570462	107211856	7958022	741	119918											
F7	2155	broad.mit.edu	37	chr13	113771897	113771897	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaagaactggaggaacctGatcgcggtgctgggtgggta	16	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:113771897G>A	uc001vsv.2	+	8	843	c.792G>A	c.(790-792)CTG>CTA	p.L264L	F7_uc001vsw.2_Silent_p.L242L|F7_uc010tjt.1_Silent_p.L195L	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	264	Peptidase S1.		L -> P (in FA7D).		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				0	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)	GGAGGAACCTGATCGCGGTGC	0.627													A	113771897	G	A	113771897	2	1	236	1	0	0	0	0	0	0	0	1	5349	1277	45	4		4	F7	13	113771897	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6560041	113771897	1397981	742	119919											
ADPRHL1	113622	broad.mit.edu	37	chr13	114107633	114107633	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgaggtggtccaggcccccGgaacgttgcagctcctcctg	13	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:114107633G>T	uc001vtq.1	-	1	207	c.120C>A	c.(118-120)TCC>TCA	p.S40S		NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCAGGCCCCCGGAACGTTGCA	0.597													T	114107633	G	T	114107633	2	4	236	1	0	0	0	0	0	0	0	1	332	1103	39	5		5	ADPRHL1	13	114107633	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	335736	114107633	1062245	743	119920											
OR4K5	79317	broad.mit.edu	37	chr14	20388906	20388906	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaatcttctcattatcctCacagtgacttctgataccag	6	11	4	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:20388906C>T	uc010tkw.1	+	1	141	c.141C>T	c.(139-141)CTC>CTT	p.L47L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATTATCCTCACAGTGACTT	0.408													T	20388906	C	T	20388906	2	4	236	1	0	0	0	0	0	0	0	1	11073	813	29	4		4	OR4K5	14	20388906	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08		20388906	86960634	744	119921											
OR4K5	79317	broad.mit.edu	37	chr14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-													gacctaatgtagtagacagcTttttttgtgatcttcctcga							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					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)		TAGTAGACAGCTTTTTTTGTG	0.418													-	20389294	T	-	20389294	7	5	236	1	0	1	0	1	0	0	0	0	11073	1609	56	0	531	0	OR4K5	14	20389294	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	388	20389294	86960246	745	119922											
FLJ10357	55701	broad.mit.edu	37	chr14	21549815	21549815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctggccctggacctgGgcagcccagcagccctgcga	15	17	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:21549815G>A	uc001vzp.2	+	14	2817	c.2788G>A	c.(2788-2790)GGC>AGC	p.G930S	FLJ10357_uc001vzo.1_Missense_Mutation_p.G9S|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.G216S	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	930					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CCTGGACCTGGGCAGCCCAGC	0.726													A	21549815	G	A	21549815	3	1	236	1	0	0	0	0	1	0	0	0	5926	1232	43	4	2842	4	FLJ10357	14	21549815	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1160521	21549815	85799725	746	119923											
SUPT16H	11198	broad.mit.edu	37	chr14	21826587	21826587	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcctcatttctcgttccatCtgtagaagaaaaaaatatca	5	9	4	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:21826587C>A	uc001wao.2	-	20	2641	c.2302_splice	c.e20-1	p.M768_splice	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation						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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCGTTCCATCTGTAGAAGAA	0.348													A	21826587	C	A	21826587	5	1	236	1	0	0	0	0	0	0	1	0	15393	927	32	5	870	5	SUPT16H	14	21826587	Splice_Site	SNP	C	TCGA-F1-6874-01A-11D-1882-08	276772	21826587	85522953	747	119924											
SUPT16H	11198	broad.mit.edu	37	chr14	21827659	21827659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgctcagcatagaggTcatctcggtcatgcatatgc	9	11	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:21827659T>C	uc001wao.2	-	19	2624	c.2285A>G	c.(2284-2286)GAC>GGC	p.D762G	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	762					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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGCATAGAGGTCATCTCGGTC	0.448													C	21827659	T	C	21827659	3	2	236	1	0	0	0	0	1	0	0	0	15393	1667	58	3	890	3	SUPT16H	14	21827659	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1072	21827659	85521881	748	119925											
OXA1L	5018	broad.mit.edu	37	chr14	23236581	23236581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcttccggcccccgcaGcctcagtacctctgctatct	9	18	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:23236581G>T	uc001wgn.2	+	2	368	c.368G>T	c.(367-369)AGC>ATC	p.S123I	OXA1L_uc010tnc.1_Missense_Mutation_p.S123I|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.S123I|OXA1L_uc001wgp.2_Missense_Mutation_p.S47I|OXA1L_uc001wgq.2_5'UTR	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	63	Mitochondrial intermembrane (Potential).				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)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GGCCCCCGCAGCCTCAGTACC	0.547													T	23236581	G	T	23236581	3	4	236	1	0	0	0	0	1	0	0	0	11328	971	34	5	374	5	OXA1L	14	23236581	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1408922	23236581	84112959	749	119926											
CDH24	64403	broad.mit.edu	37	chr14	23518350	23518350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccgtcaggctggcagcGgcacacactaacagtcactg	12	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:23518350G>A	uc001wil.2	-	12	2106	c.1846C>T	c.(1846-1848)CGC>TGC	p.R616C	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.R578C	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	616	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTGGCAGCGGCACACACTA	0.647													A	23518350	G	A	23518350	3	1	236	1	0	0	0	0	1	0	0	0	3109	1116	39	1	621	1	CDH24	14	23518350	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	281769	23518350	83831190	750	119927											
MYH7	4625	broad.mit.edu	37	chr14	23902765	23902765	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatactcggtctcggcagtGactttgccaccctctcgaga	9	15	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:23902765G>A	uc001wjx.2	-	3	283	c.177C>T	c.(175-177)GTC>GTT	p.V59V		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	59	Myosin head-like.		V -> I (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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCGGCAGTGACTTTGCCAC	0.567													A	23902765	G	A	23902765	2	1	236	1	0	0	0	0	0	0	0	1	10039	1277	45	4		4	MYH7	14	23902765	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	384415	23902765	83446775	751	119928											
DCAF11	80344	broad.mit.edu	37	chr14	24588791	24588791	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgatggctgcctgtatgTctttgaccgagaacagaacc	10	10	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:24588791T>G	uc001wlv.2	+	10	1152	c.872T>G	c.(871-873)GTC>GGC	p.V291G	DCAF11_uc001wlw.2_Missense_Mutation_p.V291G|DCAF11_uc001wlz.2_Missense_Mutation_p.V191G|DCAF11_uc001wly.2_Missense_Mutation_p.V247G|DCAF11_uc001wme.2_Missense_Mutation_p.V251G|DCAF11_uc010tny.1_Missense_Mutation_p.V158G|DCAF11_uc001wmd.2_Missense_Mutation_p.V291G|DCAF11_uc001wmc.2_Missense_Mutation_p.V191G|DCAF11_uc001wmb.3_Missense_Mutation_p.V265G|DCAF11_uc001wma.3_Missense_Mutation_p.V291G	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	291	WD 3.					CUL4 RING ubiquitin ligase complex	protein binding				0						TGCCTGTATGTCTTTGACCGA	0.512													G	24588791	T	G	24588791	3	3	236	1	0	0	0	0	1	0	0	0	4262	1667	58	5	906	5	DCAF11	14	24588791	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	686026	24588791	82760749	752	119929											
REC8	9985	broad.mit.edu	37	chr14	24646921	24646922	+	Frame_Shift_Ins	INS	-	-	C													ggtgttgttgcagaggtgacINSccccccggaggagctgcgtc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:24646920_24646921A>AC	uc001wmr.3	+	11	1244_1245	c.817_818A>AC	c.(817-819)accfs	p.T273fs	REC8_uc001wms.3_Frame_Shift_Ins_p.T273fs	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	274	Glu-rich.|Pro-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)		TGCAGAGGTGACCCCCCCGGAG	0.614													C	24646922	-	C	24646921	7	5	236	1	0	1	1	0	0	0	0	0	13199	507	18	0	860	0	REC8	14	24646921	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	58130	24646921	82702619	753	119930											
HECTD1	25831	broad.mit.edu	37	chr14	31598602	31598602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcaaattttccttctgcGcccatacggtaagagtttga	9	9	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:31598602G>A	uc001wrc.1	-	25	4464	c.3975C>T	c.(3973-3975)GGC>GGT	p.G1325G	HECTD1_uc001wrb.1_5'Flank|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1325	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		TTCCTTCTGCGCCCATACGGT	0.512													A	31598602	G	A	31598602	2	1	236	1	0	0	0	0	0	0	0	1	7039	1074	38	1		1	HECTD1	14	31598602	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6951681	31598602	75750938	754	119931											
RALGAPA1	253959	broad.mit.edu	37	chr14	36074915	36074915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatcttgtgtgtctctcgGctataaaacaaaagattaca	7	8	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:36074915G>A	uc001wti.2	-	35	5803	c.5412C>T	c.(5410-5412)TGC>TGT	p.C1804C	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.C1804C|RALGAPA1_uc010tpv.1_Silent_p.C1817C|RALGAPA1_uc010tpw.1_Silent_p.C1851C	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1804	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			ovary(3)|breast(1)	4						GTGTCTCTCGGCTATAAAACA	0.323													A	36074915	G	A	36074915	2	1	236	1	0	0	0	0	0	0	0	1	13013	1217	42	2		2	RALGAPA1	14	36074915	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4476313	36074915	71274625	755	119932											
PAX9	5083	broad.mit.edu	37	chr14	37145547	37145547	+	Frame_Shift_Del	DEL	G	G	-													gacatgggtggcaacatgctGggggcacctcattgtctccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:37145546_37145546TG>T	uc001wty.4	+	4	1641	c.915_915TG>T	c.(913-915)gctfs	p.A305fs	PAX9_uc010amq.3_Non-coding_Transcript	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	305					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)		GGCAACATGCTGGGGGCACCT	0.562													-	37145547	G	-	37145547	7	5	236	1	0	1	0	1	0	0	0	0	11486	1348	47	0	930	0	PAX9	14	37145547	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1070632	37145547	70203993	756	119933											
PRPF39	55015	broad.mit.edu	37	chr14	45578921	45578921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgggactcatgaacgaGttgtggttctctttgaaaga	11	5	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:45578921G>A	uc001wvz.3	+	8	1284	c.1114G>A	c.(1114-1116)GTT>ATT	p.V372I	PRPF39_uc001wvy.3_Missense_Mutation_p.V251I|PRPF39_uc010and.2_Missense_Mutation_p.V162I|PRPF39_uc001wwa.1_5'Flank|SNORD127_uc010ane.2_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	372	HAT 6.				mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2						TCATGAACGAGTTGTGGTTCT	0.328													A	45578921	G	A	45578921	3	1	236	1	0	0	0	0	1	0	0	0	12569	1029	36	4	1140	4	PRPF39	14	45578921	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	8433374	45578921	61770619	757	119934											
SOS2	6655	broad.mit.edu	37	chr14	50586993	50586993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaaagtcctgttgattacCttggaatttgaagcatcatg	9	6	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:50586993C>A	uc001wxs.3	-	22	3587	c.3489G>T	c.(3487-3489)AAG>AAT	p.K1163N	SOS2_uc010ans.2_Translation_Start_Site|SOS2_uc010tql.1_Missense_Mutation_p.K1130N	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1163					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			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGTTGATTACCTTGGAATTTG	0.358													A	50586993	C	A	50586993	3	1	236	1	0	0	0	0	1	0	0	0	14937	695	24	5	517	5	SOS2	14	50586993	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5008072	50586993	56762547	758	119935											
DDHD1	80821	broad.mit.edu	37	chr14	53558636	53558636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataacctctatgaagtctggTaccactacttgatgctgtag	8	9	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:53558636T>C	uc001xai.2	-	4	1386	c.1156A>G	c.(1156-1158)ACC>GCC	p.T386A	DDHD1_uc001xaj.2_Missense_Mutation_p.T393A|DDHD1_uc001xah.2_Missense_Mutation_p.T386A|DDHD1_uc001xag.2_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	386					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					TGAAGTCTGGTACCACTACTT	0.323													C	53558636	T	C	53558636	3	2	236	1	0	0	0	0	1	0	0	0	4326	1638	57	3	1586	3	DDHD1	14	53558636	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2971643	53558636	53790904	759	119936											
GPX2	2877	broad.mit.edu	37	chr14	65406501	65406501	+	Frame_Shift_Del	DEL	C	C	-													tgaaggtgggctggtatccaCccccaggacggacatacttg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:65406500_65406500AC>A	uc021ruq.1	-	1	366	c.279_279GT>T	c.(277-279)ggtfs	p.G93fs	CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	93					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTGGTATCCACCCCCAGGAC	0.537													-	65406501	C	-	65406501	7	5	236	1	0	1	0	1	0	0	0	0	6740	507	18	0	298	0	GPX2	14	65406501	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	11847865	65406501	41943039	760	119937											
FUT8	2530	broad.mit.edu	37	chr14	66200014	66200014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggactgcacaatcgatAcacagaaaattcacttcgtg	8	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:66200014A>G	uc001xin.2	+	10	2522	c.1325A>G	c.(1324-1326)TAC>TGC	p.Y442C	FUT8_uc001xio.2_Missense_Mutation_p.Y442C|FUT8_uc010tsp.1_Missense_Mutation_p.Y279C|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Y442C|FUT8_uc001xiq.2_Missense_Mutation_p.Y313C|FUT8_uc001xis.2_Missense_Mutation_p.Y36C	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	442	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CACAATCGATACACAGAAAAT	0.373													G	66200014	A	G	66200014	3	3	236	1	0	0	0	0	1	0	0	0	6110	391	14	3	1454	3	FUT8	14	66200014	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	793513	66200014	41149526	761	119938											
HEATR4	399671	broad.mit.edu	37	chr14	73973210	73973210	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccgggagaaagcctggcaGgccacaatccggttcttcca	11	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:73973210G>T	uc010tub.1	-	10	2269	c.1947C>A	c.(1945-1947)GCC>GCA	p.A649A	HEATR4_uc010tua.1_Silent_p.A602A	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AAGCCTGGCAGGCCACAATCC	0.498													T	73973210	G	T	73973210	2	4	236	1	0	0	0	0	0	0	0	1	7030	987	35	5		5	HEATR4	14	73973210	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	7773196	73973210	33376330	762	119939											
C14orf102	55051	broad.mit.edu	37	chr14	90782994	90782994	+	Frame_Shift_Del	DEL	G	G	-													ccttttcagaatcggtgtctGtctcagacctgctgctactc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:90782993_90782993TG>T	uc001xyi.2	-	2	569	c.336_336CA>A	c.(334-336)acafs	p.T112fs	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	112							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		AATCGGTGTCTGTCTCAGACC	0.438													-	90782994	G	-	90782994	7	5	236	1	0	1	0	1	0	0	0	0	1735	1377	48	0	3207	0	C14orf102	14	90782994	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	16809784	90782994	16566546	763	119940											
BTBD7	55727	broad.mit.edu	37	chr14	93760865	93760866	+	Frame_Shift_Ins	INS	-	-	A													aggaagaaagcagtgttttaINSaaaaatggacaccttgctgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:93760864_93760865T>TA	uc001ybo.3	-	2	827_828	c.501_502A>TA	c.(499-504)tttaaafs	p.F167fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Frame_Shift_Ins_p.F82fs|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_Frame_Shift_Ins_p.F82fs|BTBD7_uc001ybr.3_Frame_Shift_Ins_p.F167fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	167	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)		AGCAGTGTTTTAAAAAATGGAC	0.366													A	93760866	-	A	93760865	7	5	236	1	0	1	1	0	0	0	0	0	1546	359	13	0	3008	0	BTBD7	14	93760865	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	2977871	93760865	13588675	764	119941											
KIAA1409	57578	broad.mit.edu	37	chr14	94079256	94079256	+	Frame_Shift_Del	DEL	A	A	-													tgctcatgaagttcatggccAaggatgaaagcagcgctgag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:94079256delA	uc001ybv.1	+	25	3486	c.3403delA	c.(3403-3405)AAGfs	p.K1135fs	KIAA1409_uc001ybs.1_Frame_Shift_Del_p.K1113fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1290						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GTTCATGGCCAAGGATGAAAG	0.527													-	94079256	A	-	94079256	7	5	236	1	0	1	0	1	0	0	0	0	8230	131	5	0	3431	0	KIAA1409	14	94079256	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	318391	94079256	13270284	765	119942											
ATG2B	55102	broad.mit.edu	37	chr14	96752149	96752149	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccggacatctggcctaatTtggtttctcatgccacccag	9	13	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:96752149T>A	uc001yfi.2	-	42	6545	c.6180A>T	c.(6178-6180)CAA>CAT	p.Q2060H		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	2060										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTGGCCTAATTTGGTTTCTCA	0.547													A	96752149	T	A	96752149	3	1	236	1	0	0	0	0	1	0	0	0	1094	1838	64	5	60	5	ATG2B	14	96752149	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	2672893	96752149	10597391	766	119943											
DEGS2	123099	broad.mit.edu	37	chr14	100615695	100615695	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccagccctccagacgcgtGggcacgtccacgtccagccc	10	19	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:100615695G>T	uc001ygx.2	-	2	523	c.435C>A	c.(433-435)CCC>CCA	p.P145P		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	145					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)				CCAGACGCGTGGGCACGTCCA	0.672													T	100615695	G	T	100615695	2	4	236	1	0	0	0	0	0	0	0	1	4423	1335	47	5		5	DEGS2	14	100615695	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3863546	100615695	6733845	767	119944											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551160	102551160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgatgtacttttccttaAtcttcttcttcttcttcttg	4	10	6	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:102551160A>G	uc001yku.3	-	5	1029	c.839T>C	c.(838-840)ATT>ACT	p.I280T	HSP90AA1_uc001ykv.3_Missense_Mutation_p.I402T|HSP90AA1_uc001ykw.1_Missense_Mutation_p.I101T|HSP90AA1_uc001ykx.1_Missense_Mutation_p.I269T	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	280					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			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	cttttccttaatcttcttctt	0.259													G	102551160	A	G	102551160	3	3	236	1	0	0	0	0	1	0	0	0	7401	101	4	3	1387	3	HSP90AA1	14	102551160	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1935465	102551160	4798380	768	119945											
TNFAIP2	7127	broad.mit.edu	37	chr14	103598087	103598087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctgctccagaacctgcaTgaggacctgaaggtagcggg	13	12	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:103598087T>C	uc001ymm.1	+	7	1541	c.1410T>C	c.(1408-1410)CAT>CAC	p.H470H	TNFAIP2_uc010awo.1_Silent_p.H182H|TNFAIP2_uc010txz.1_Silent_p.H139H|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	470					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			AGAACCTGCATGAGGACCTGA	0.647													C	103598087	T	C	103598087	2	2	236	1	0	0	0	0	0	0	0	1	16270	1461	51	3		3	TNFAIP2	14	103598087	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1046927	103598087	3751453	769	119946											
AHNAK2	113146	broad.mit.edu	37	chr14	105418426	105418426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagagacacctccacaTcaggggctgtgacttccgcc	12	14	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:105418426T>C	uc010axc.1	-	7	3482	c.3362A>G	c.(3361-3363)GAT>GGT	p.D1121G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D1021G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1121						nucleus				ovary(1)	1		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)			CACCTCCACATCAGGGGCTGT	0.652													C	105418426	T	C	105418426	3	2	236	1	0	0	0	0	1	0	0	0	415	1435	50	3	14029	3	AHNAK2	14	105418426	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1820339	105418426	1931114	770	119947											
OCA2	4948	broad.mit.edu	37	chr15	28273032	28273032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctcagcttggaaagaCggagtcggatgtgcgggctg	15	10	1	1	rs151118268		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:28273032C>T	uc001zbh.3	-	4	610	c.500G>A	c.(499-501)CGT>CAT	p.R167H	OCA2_uc010ayv.2_Missense_Mutation_p.R167H	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	167	Cytoplasmic (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		CTTGGAAAGACGGAGTCGGAT	0.612									Oculocutaneous_Albinism				T	28273032	C	T	28273032	3	4	236	1	0	0	0	0	1	0	0	0	10815	536	19	1	2100	1	OCA2	15	28273032	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08		28273032	74258360	771	119948											
HERC2	8924	broad.mit.edu	37	chr15	28447385	28447385	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagccacccgaccaaGgcttccacacctaagagagg	9	16	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:28447385G>T	uc001zbj.2	-	47	7597	c.7491C>A	c.(7489-7491)GCC>GCA	p.A2497A	HERC2_uc001zbk.1_Silent_p.A32A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2497					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		ACCCGACCAAGGCTTCCACAC	0.582													T	28447385	G	T	28447385	2	4	236	1	0	0	0	0	0	0	0	1	7058	987	35	5		5	HERC2	15	28447385	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	174353	28447385	74084007	772	119949											
HERC2	8924	broad.mit.edu	37	chr15	28538093	28538093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccctatatataggtgcaGgagtttcttcttcatctttt	8	8	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:28538093G>T	uc001zbj.2	-	4	369	c.263C>A	c.(262-264)CCT>CAT	p.P88H	HERC2_uc001zbl.1_Translation_Start_Site	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	88					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		TATAGGTGCAGGAGTTTCTTC	0.383													T	28538093	G	T	28538093	3	4	236	1	0	0	0	0	1	0	0	0	7058	1000	35	5	14601	5	HERC2	15	28538093	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	90708	28538093	73993299	773	119950											
TJP1	7082	broad.mit.edu	37	chr15	29993817	29993817	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttaaaagtggtcaataagGacagaaacacagtttgctcc	9	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:29993817G>A	uc001zcr.2	-	28	5704	c.5229C>T	c.(5227-5229)GTC>GTT	p.V1743V	TJP1_uc010azl.2_Silent_p.V1751V|TJP1_uc001zcq.2_Silent_p.V1687V|TJP1_uc001zcs.2_Silent_p.V1663V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1743					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		GGTCAATAAGGACAGAAACAC	0.348													A	29993817	G	A	29993817	2	1	236	1	0	0	0	0	0	0	0	1	15926	1161	41	4		4	TJP1	15	29993817	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1455724	29993817	72537575	774	119951											
SLC12A6	9990	broad.mit.edu	37	chr15	34628841	34628841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcggtgtcaccatgaacCgaactgaagccatcttggtg	11	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:34628841C>T	uc001zhw.2	-	1	205	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	SLC12A6_uc001zhx.2_Missense_Mutation_p.R14Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Missense_Mutation_p.R5Q|SLC12A6_uc001zic.2_Missense_Mutation_p.R14Q|SLC12A6_uc010bau.2_Missense_Mutation_p.R14Q|SLC12A6_uc001zid.2_Intron	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	14	Cytoplasmic (Potential).				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)|ovary(1)|skin(1)	7		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)	CACCATGAACCGAACTGAAGC	0.468													T	34628841	C	T	34628841	3	4	236	1	0	0	0	0	1	0	0	0	14387	652	23	1	3633	1	SLC12A6	15	34628841	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4635024	34628841	67902551	775	119952											
AQR	9716	broad.mit.edu	37	chr15	35198753	35198753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtcaccataccatcttcAatgacacgtcctttatcatc	4	13	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:35198753A>G	uc001ziv.2	-	18	2005	c.1824T>C	c.(1822-1824)ATT>ATC	p.I608I		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	608						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		TACCATCTTCAATGACACGTC	0.378													G	35198753	A	G	35198753	2	3	236	1	0	0	0	0	0	0	0	1	835	126	5	3		3	AQR	15	35198753	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	569912	35198753	67332639	776	119953											
INO80	54617	broad.mit.edu	37	chr15	41340436	41340437	+	Frame_Shift_Del	DEL	AT	AT	-													tgtgaaagagagaccgttggAtatagtctggtgcaaatgga							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:41340435_41340436GAT>G	uc001zni.3	-	21	2828_2829	c.2615_2616ATC>C	c.(2614-2616)atcfs	p.I872fs	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	872	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			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						GAGACCGTTGGATATAGTCTGG	0.381													-	41340437	AT	-	41340436	7	5	236	1	0	1	0	1	0	0	0	0	7746	333	12	0	2115	0	INO80	15	41340436	Frame_Shift_Del	DEL	AT	TCGA-F1-6874-01A-11D-1882-08	6141683	41340436	61190956	777	119954											
RTF1	23168	broad.mit.edu	37	chr15	41750018	41750019	+	Frame_Shift_Del	DEL	AG	AG	-													ctggaacagatgacagagaaAgagagagagcaagaactgtt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:41750017_41750018AAG>A	uc001zny.3	+	3	617_618	c.605_606AAG>A	c.(604-606)aaafs	p.K202fs		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	202	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.K202R(1)		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)		ATGACAGAGAAAGAGAGAGAGC	0.51													-	41750019	AG	-	41750018	7	5	236	1	0	1	0	1	0	0	0	0	13721	69	3	0	620	0	RTF1	15	41750018	Frame_Shift_Del	DEL	AG	TCGA-F1-6874-01A-11D-1882-08	409582	41750018	60781374	778	119955											
TYRO3	7301	broad.mit.edu	37	chr15	41863254	41863254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagtttggttcagtgcGggaggcccagctgaagcaag	17	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:41863254G>A	uc001zof.1	+	13	1822	c.1598G>A	c.(1597-1599)CGG>CAG	p.R533Q		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	533	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		GGTTCAGTGCGGGAGGCCCAG	0.552													A	41863254	G	A	41863254	3	1	236	1	0	0	0	0	1	0	0	0	16811	1116	39	1	1648	1	TYRO3	15	41863254	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	113236	41863254	60668138	779	119956											
MGA	23269	broad.mit.edu	37	chr15	42057187	42057187	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctattctcaggaccagtGgtagctgtttctcctgatct	8	13	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:42057187G>T	uc010ucy.1	+	23	8029	c.7848G>T	c.(7846-7848)GTG>GTT	p.V2616V	MGA_uc010ucz.1_Silent_p.V2407V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2577						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		CAGGACCAGTGGTAGCTGTTT	0.493													T	42057187	G	T	42057187	2	4	236	1	0	0	0	0	0	0	0	1	9540	1335	47	5		5	MGA	15	42057187	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	193933	42057187	60474205	780	119957											
MGA	23269	broad.mit.edu	37	chr15	42059314	42059314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagagtctcaaggtgatgCcttgtttggcacctatagct	11	9	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:42059314C>T	uc010ucy.1	+	24	9215	c.9034C>T	c.(9034-9036)CCT>TCT	p.P3012S	MGA_uc010ucz.1_Missense_Mutation_p.P2803S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2973						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		CAAGGTGATGCCTTGTTTGGC	0.488													T	42059314	C	T	42059314	3	4	236	1	0	0	0	0	1	0	0	0	9540	739	26	2	9124	2	MGA	15	42059314	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2127	42059314	60472078	781	119958											
VPS39	23339	broad.mit.edu	37	chr15	42455911	42455911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgccccaacaggagagctCgttcttctaagaggcctagg	12	12	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:42455911C>T	uc001zpd.2	-	21	2226	c.2075G>A	c.(2074-2076)CGA>CAA	p.R692Q	VPS39_uc001zpc.2_Missense_Mutation_p.R681Q|VPS39_uc001zpb.2_Missense_Mutation_p.R27Q	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	692					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		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)		CAGGAGAGCTCGTTCTTCTAA	0.512													T	42455911	C	T	42455911	3	4	236	1	0	0	0	0	1	0	0	0	17206	884	31	1	609	1	VPS39	15	42455911	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	396597	42455911	60075481	782	119959											
LCMT2	9836	broad.mit.edu	37	chr15	43621731	43621731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatggaaacactagggtGtgggagagggtgtctcccct	17	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:43621731G>A	uc001zrg.2	-	1	1161	c.957C>T	c.(955-957)CAC>CAT	p.H319H	LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	319					tRNA processing		methyltransferase activity|protein binding				0		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)	ACACTAGGGTGTGGGAGAGGG	0.532													A	43621731	G	A	43621731	2	1	236	1	0	0	0	0	0	0	0	1	8679	1368	48	4		4	LCMT2	15	43621731	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1165820	43621731	58909661	783	119960											
ADAL	161823	broad.mit.edu	37	chr15	43628015	43628015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaagggaaagaaaagaaCtttggaagagtaagtgtggg	15	2	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:43628015C>T	uc010udo.1	+	5	759	c.185C>T	c.(184-186)ACT>ATT	p.T62I	ADAL_uc001zrh.2_Missense_Mutation_p.T62I	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	adenosine deaminase-like isoform 1	62					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding				0		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		AAGAAAAGAACTTTGGAAGAG	0.363													T	43628015	C	T	43628015	3	4	236	1	0	0	0	0	1	0	0	0	233	565	20	4	191	4	ADAL	15	43628015	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6284	43628015	58903377	784	119961											
ADAL	161823	broad.mit.edu	37	chr15	43641115	43641116	+	Frame_Shift_Ins	INS	-	-	A													tttctttagattccaaaccaINSaaaaaaagaaacacaaatac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:43641114_43641115C>CA	uc010udo.2	+	9	1136_1137	c.562_563C>CA	c.(562-564)caafs	p.Q188fs	ADAL_uc001zrh.3_Frame_Shift_Ins_p.Q215fs|ADAL_uc001zri.2_Frame_Shift_Ins_p.Q100fs	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455													A	43641116	-	A	43641115	7	5	236	1	0	1	1	0	0	0	0	0	233	130	5	0	674	0	ADAL	15	43641115	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	13100	43641115	58890277	785	119962											
CTDSPL2	51496	broad.mit.edu	37	chr15	44806839	44806839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagggaattcctggaacGaatgtctcagatgtatgagg	12	6	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:44806839G>A	uc001ztr.2	+	9	1429	c.1013G>A	c.(1012-1014)CGA>CAA	p.R338Q	CTDSPL2_uc001zts.2_Missense_Mutation_p.R338Q|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R338Q|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R266Q	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	338	FCP1 homology.						phosphoprotein phosphatase activity				0		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)		TTCCTGGAACGAATGTCTCAG	0.299													A	44806839	G	A	44806839	3	1	236	1	0	0	0	0	1	0	0	0	4006	1058	37	1	1043	1	CTDSPL2	15	44806839	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1165724	44806839	57724553	786	119963											
SLC12A1	6557	broad.mit.edu	37	chr15	48512844	48512844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcagaatgtggcagtcaCcccaagttcagctgacagag	11	10	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:48512844C>T	uc001zwn.3	+	3	650	c.434C>T	c.(433-435)ACC>ATC	p.T145I	SLC12A1_uc010uew.1_5'UTR|SLC12A1_uc010bem.2_Missense_Mutation_p.T145I|SLC12A1_uc010uex.1_Missense_Mutation_p.T145I|SLC12A1_uc001zwq.3_5'Flank	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	145	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		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)	GTGGCAGTCACCCCAAGTTCA	0.398													T	48512844	C	T	48512844	3	4	236	1	0	0	0	0	1	0	0	0	14382	507	18	4	440	4	SLC12A1	15	48512844	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3706005	48512844	54018548	787	119964											
FBN1	2200	broad.mit.edu	37	chr15	48704804	48704804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttcgtttgtgcttctccGtttcctgccccgtttggggt	11	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:48704804G>A	uc001zwx.1	-	65	8516	c.8188C>T	c.(8188-8190)CGG>TGG	p.R2730W	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2730					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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGCTTCTCCGTTTCCTGCCC	0.507													A	48704804	G	A	48704804	3	1	236	1	0	0	0	0	1	0	0	0	5702	1144	40	1	435	1	FBN1	15	48704804	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	191960	48704804	53826588	788	119965											
DMXL2	23312	broad.mit.edu	37	chr15	51773540	51773541	+	Frame_Shift_Ins	INS	-	-	T													aaatgaagtcaggctgatctINSttttttgcagataaggcaga							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:51773539_51773540C>CT	uc010ufy.2	-	23	5988_5989	c.5763_5764G>AG	c.(5761-5766)aaagatfs	p.K1921fs	DMXL2_uc002abd.3_5'UTR|DMXL2_uc002abf.3_Frame_Shift_Ins_p.K1921fs|DMXL2_uc010bfa.3_Frame_Shift_Ins_p.K1285fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1921						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)		TCAGGCTGATCTTTTTTTGCAG	0.401													T	51773541	-	T	51773540	7	5	236	1	0	1	1	0	0	0	0	0	4595	1606	56	0	3430	0	DMXL2	15	51773540	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	3068736	51773540	50757852	789	119966											
UNC13C	440279	broad.mit.edu	37	chr15	54914546	54914546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttcctccaaagatgccgTgggtcagatatctgttcatg	10	10	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:54914546T>C	uc002ack.2	+	29	6128	c.6128T>C	c.(6127-6129)GTG>GCG	p.V2043A	UNC13C_uc002acm.2_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2043					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGATGCCGTGGGTCAGATA	0.413													C	54914546	T	C	54914546	3	2	236	1	0	0	0	0	1	0	0	0	16983	1696	59	3	6242	3	UNC13C	15	54914546	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	3141006	54914546	47616846	790	119967											
TLN2	83660	broad.mit.edu	37	chr15	62966048	62966048	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaggaattcctgcccaaaGaatatatcaagcagagagga	10	7	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:62966048G>A	uc002alb.3	+	7	811	c.811G>A	c.(811-813)GAA>AAA	p.E271K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	271	FERM.				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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CCTGCCCAAAGAATATATCAA	0.358													A	62966048	G	A	62966048	3	1	236	1	0	0	0	0	1	0	0	0	15945	943	33	4	837	4	TLN2	15	62966048	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	8051502	62966048	39565344	791	119968											
KBTBD13	390594	broad.mit.edu	37	chr15	65369263	65369263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttccgaggcctcttccGctccggcatgcgggagaccc	11	17	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:65369263G>A	uc010uis.1	+	1	110	c.110G>A	c.(109-111)CGC>CAC	p.R37H	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	hypothetical protein LOC390594	37	BTB.					cytoplasm					0						GGCCTCTTCCGCTCCGGCATG	0.721													A	65369263	G	A	65369263	3	1	236	1	0	0	0	0	1	0	0	0	7992	1087	38	1	112	1	KBTBD13	15	65369263	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2403215	65369263	37162129	792	119969											
NOX5	79400	broad.mit.edu	37	chr15	69335087	69335087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcagacccactgggccGtggttctaagaggctgtcga	14	11	2	2	rs140448769	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:69335087G>A	uc002ars.1	+	10	1609	c.1589G>A	c.(1588-1590)CGT>CAT	p.R530H	NOX5_uc002arp.1_Missense_Mutation_p.R512H|NOX5_uc002arq.1_Missense_Mutation_p.R484H|NOX5_uc010bid.1_Missense_Mutation_p.R495H|NOX5_uc002arr.1_Missense_Mutation_p.R502H|NOX5_uc010bie.1_Missense_Mutation_p.R330H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	530	FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region.				angiogenesis|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|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(1)|pancreas(1)	2						CCACTGGGCCGTGGTTCTAAG	0.542													A	69335087	G	A	69335087	3	1	236	1	0	0	0	0	1	0	0	0	10559	1145	40	1	1660	1	NOX5	15	69335087	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3965824	69335087	33196305	793	119970											
PARP6	56965	broad.mit.edu	37	chr15	72549754	72549754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgtagaaggagaaaaCgcatagttcacgagtacaga	12	6	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:72549754C>T	uc002auc.2	-	12	1393	c.934G>A	c.(934-936)GTT>ATT	p.V312I	PARP6_uc002aua.2_Missense_Mutation_p.V157I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.V312I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	312							NAD+ ADP-ribosyltransferase activity				0						AAGGAGAAAACGCATAGTTCA	0.537													T	72549754	C	T	72549754	3	4	236	1	0	0	0	0	1	0	0	0	11464	536	19	1	1006	1	PARP6	15	72549754	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3214667	72549754	29981638	794	119971											
TMEM202	338949	broad.mit.edu	37	chr15	72691037	72691037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtgcctcgatgtcatGccaaaggcagcagcagctta	10	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:72691037G>A	uc002auq.2	+	2	125	c.125G>A	c.(124-126)TGC>TAC	p.C42Y	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	42						integral to membrane				central_nervous_system(1)|skin(1)	2						TCGATGTCATGCCAAAGGCAG	0.522													A	72691037	G	A	72691037	3	1	236	1	0	0	0	0	1	0	0	0	16124	1319	46	2	131	2	TMEM202	15	72691037	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	141283	72691037	29840355	795	119972											
GOLGA6B	55889	broad.mit.edu	37	chr15	72956844	72956844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaagcctcgtggctctccCgggagaaggtacaggagacc	14	12	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:72956844C>T	uc010uks.1	+	13	1534	c.1493C>T	c.(1492-1494)CCG>CTG	p.P498L	uc002aux.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	498	Potential.										0						GTGGCTCTCCCGGGAGAAGGT	0.577													T	72956844	C	T	72956844	3	4	236	1	0	0	0	0	1	0	0	0	6558	652	23	1	1543	1	GOLGA6B	15	72956844	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	265807	72956844	29574548	796	119973											
ETFA	2108	broad.mit.edu	37	chr15	76585005	76585005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagccaccagaacttTtgctatgcctgctactttac	7	12	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:76585005T>C	uc002bbt.2	-	3	304	c.223A>G	c.(223-225)AAA>GAA	p.K75E	ETFA_uc010bkq.1_Missense_Mutation_p.K26E|ETFA_uc002bbu.1_Missense_Mutation_p.K75E	NM_000126	NP_000117	P13804	ETFA_HUMAN	electron transfer flavoprotein, alpha	75					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity				0						ACCAGAACTTTTGCTATGCCT	0.368													C	76585005	T	C	76585005	3	2	236	1	0	0	0	0	1	0	0	0	5269	1850	64	3	818	3	ETFA	15	76585005	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	3628161	76585005	25946387	797	119974											
MEX3B	84206	broad.mit.edu	37	chr15	82335957	82335957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggttggcgttggagggCgcactggcgccacccccggg	17	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:82335957C>T	uc002bgq.1	-	2	1569	c.1254G>A	c.(1252-1254)GCG>GCA	p.A418A		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	418					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CGTTGGAGGGCGCACTGGCGC	0.562													T	82335957	C	T	82335957	2	4	236	1	0	0	0	0	0	0	0	1	9510	755	27	1		1	MEX3B	15	82335957	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5750952	82335957	20195435	798	119975											
KLHL25	64410	broad.mit.edu	37	chr15	86311599	86311599	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggctgtgtaccgccaAggctgggggcactcggcctt	16	13	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:86311599A>G	uc002bly.2	-	2	1646	c.1443T>C	c.(1441-1443)CCT>CCC	p.P481P		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	481	Kelch 4.					cytoplasm				ovary(2)	2						TGTACCGCCAAGGCTGGGGGC	0.607													G	86311599	A	G	86311599	2	3	236	1	0	0	0	0	0	0	0	1	8380	59	3	3		3	KLHL25	15	86311599	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	3975642	86311599	16219793	799	119976											
POLG	5428	broad.mit.edu	37	chr15	89872190	89872190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgctgggcctcttctgGctttcctctgggacttctgg	11	14	5	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:89872190G>A	uc002bns.3	-	4	1289	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	POLG_uc002bnr.3_Missense_Mutation_p.A336V	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	336					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCCTCTTCTGGCTTTCCTCTG	0.632								DNA_polymerases_(catalytic_subunits)					A	89872190	G	A	89872190	3	1	236	1	0	0	0	0	1	0	0	0	12200	1203	42	2	2792	2	POLG	15	89872190	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3560591	89872190	12659202	800	119977											
C15orf42	90381	broad.mit.edu	37	chr15	90164625	90164625	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtttttgacttgcagaCcaaagagaaaattctccagt	8	8	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:90164625C>G	uc002boe.2	+	19	3156	c.3156C>G	c.(3154-3156)GAC>GAG	p.D1052E	C15orf42_uc010upv.1_5'Flank	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1052					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GACTTGCAGACCAAAGAGAAA	0.348													G	90164625	C	G	90164625	3	3	236	1	0	0	0	0	1	0	0	0	1796	521	18	5	3230	5	C15orf42	15	90164625	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	292435	90164625	12366767	801	119978											
PRC1	9055	broad.mit.edu	37	chr15	91527282	91527282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtaactcgctgcacagaGtgttcagctctttctgacag	9	11	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:91527282G>A	uc002bqm.2	-	3	390	c.233C>T	c.(232-234)ACT>ATT	p.T78I	PRC1_uc002bqn.2_Missense_Mutation_p.T78I|PRC1_uc002bqo.2_Missense_Mutation_p.T78I|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.T26I	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	78	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTGCACAGAGTGTTCAGCTC	0.493													A	91527282	G	A	91527282	3	1	236	1	0	0	0	0	1	0	0	0	12446	1029	36	4	1681	4	PRC1	15	91527282	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1362657	91527282	11004110	802	119979											
CHD2	1106	broad.mit.edu	37	chr15	93552395	93552395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaggagaggatgaggccCgtgaaaaaggcactgaaaca	14	6	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:93552395C>T	uc002bsp.2	+	35	5009	c.4434C>T	c.(4432-4434)CCC>CCT	p.P1478P	CHD2_uc002bso.1_Silent_p.P1478P	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1478					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGATGAGGCCCGTGAAAAAGG	0.488													T	93552395	C	T	93552395	2	4	236	1	0	0	0	0	0	0	0	1	3325	639	23	1		1	CHD2	15	93552395	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2025113	93552395	8978997	803	119980											
RGMA	56963	broad.mit.edu	37	chr15	93588402	93588402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaacgcgtagtaggcGgccagtgtgaagttcacgtc	12	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:93588402G>A	uc002bss.1	-	4	1451	c.1179C>T	c.(1177-1179)GCC>GCT	p.A393A	RGMA_uc002bsq.1_Silent_p.A377A|RGMA_uc010boi.1_Silent_p.A284A|RGMA_uc002bsr.1_Silent_p.A284A|RGMA_uc010urc.1_Silent_p.A401A	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	393					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGTAGTAGGCGGCCAGTGTGA	0.607													A	93588402	G	A	93588402	2	1	236	1	0	0	0	0	0	0	0	1	13280	1103	39	1		1	RGMA	15	93588402	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	36007	93588402	8942990	804	119981											
RGMA	56963	broad.mit.edu	37	chr15	93588679	93588679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcctccacagcattgAccacttcctctggcatgcgg	8	17	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:93588679A>G	uc002bss.1	-	4	1174	c.902T>C	c.(901-903)GTC>GCC	p.V301A	RGMA_uc002bsq.1_Missense_Mutation_p.V285A|RGMA_uc010boi.1_Missense_Mutation_p.V192A|RGMA_uc002bsr.1_Missense_Mutation_p.V192A|RGMA_uc010urc.1_Missense_Mutation_p.V309A	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	301					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CACAGCATTGACCACTTCCTC	0.627													G	93588679	A	G	93588679	3	3	236	1	0	0	0	0	1	0	0	0	13280	275	10	3	454	3	RGMA	15	93588679	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	277	93588679	8942713	805	119982											
MCTP2	55784	broad.mit.edu	37	chr15	94841688	94841688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggccttggccccagaggGccggccttactccgggccac	14	16	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:94841688G>A	uc002btj.2	+	1	259	c.194G>A	c.(193-195)GGC>GAC	p.G65D	MCTP2_uc010urg.1_Missense_Mutation_p.G65D|MCTP2_uc002bti.2_Missense_Mutation_p.G65D|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.G65D|MCTP2_uc002btg.3_Missense_Mutation_p.G65D|MCTP2_uc002bth.3_Missense_Mutation_p.G65D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	65					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCCCCAGAGGGCCGGCCTTAC	0.612													A	94841688	G	A	94841688	3	1	236	1	0	0	0	0	1	0	0	0	9401	1203	42	2	196	2	MCTP2	15	94841688	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1253009	94841688	7689704	806	119983											
ARRDC4	91947	broad.mit.edu	37	chr15	98514379	98514379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttgacccacatcctagcGacgtagaagagagccagcct	11	12	0	3	rs140102944		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:98514379G>A	uc010bom.2	+	8	1378	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	ARRDC4_uc002bui.3_Missense_Mutation_p.D320N	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			ACATCCTAGCGACGTAGAAGA	0.383													A	98514379	G	A	98514379	3	1	236	1	0	0	0	0	1	0	0	0	985	1058	37	1	1249	1	ARRDC4	15	98514379	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3672691	98514379	4017013	807	119984											
SOLH	6650	broad.mit.edu	37	chr16	601555	601555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgtttctcctggaacGgcagctggtccgacgagtgg	17	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:601555G>A	uc002chi.2	+	9	2599	c.2236G>A	c.(2236-2238)GGC>AGC	p.G746S	SOLH_uc002chj.2_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	746	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				CTCCTGGAACGGCAGCTGGTC	0.667													A	601555	G	A	601555	3	1	236	1	0	0	0	0	1	0	0	0	14925	1116	39	1	2258	1	SOLH	16	601555	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08		601555	89753198	808	119985											
NHLRC4	283948	broad.mit.edu	37	chr16	618167	618167	+	Frame_Shift_Del	DEL	G	G	-													cgccaacccctgggctccctGgggggctggacggggcacac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:618166_618166TG>T	uc002chl.3	+	1	715	c.119_119TG>T	c.(118-120)ctgfs	p.L40fs	PIGQ_uc010bqw.3_Intron|NHLRC4_uc021szs.1_Frame_Shift_Del_p.L40fs|PIGQ_uc002chm.3_5'Flank|PIGQ_uc002chn.3_5'Flank|PIGQ_uc002cho.3_5'Flank	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN	Homo sapiens NHL repeat containing 4 (NHLRC4), mRNA.	40																	CTGGGCTCCCTGGGGGGCTGG	0.662													-	618167	G	-	618167	7	5	236	1	0	1	0	1	0	0	0	0	10408	1335	47	0	122	0	NHLRC4	16	618167	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	16612	618167	89736586	809	119986											
NARFL	64428	broad.mit.edu	37	chr16	786269	786269	+	Frame_Shift_Del	DEL	T	T	-													ccaggttcaaagcctacctaTttttttaaagaatgaggtta					rs146262496	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:786268_786268AT>A	uc002cjr.3	-	3	449	c.437_437AT>T	c.(436-438)atafs	p.I146fs	NARFL_uc002cjp.3_Frame_Shift_Del_p.I44fs|NARFL_uc002cjq.3_Frame_Shift_Del_p.I44fs|NARFL_uc021tab.1_Intron|NARFL_uc010brc.1_Intron|NARFL_uc010uur.1_Intron	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	146					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)				AAGCCTACCTATTTTTTTAAA	0.522													-	786269	T	-	786269	7	5	236	1	0	1	0	1	0	0	0	0	10168	1493	52	0	1026	0	NARFL	16	786269	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	168102	786269	89568484	810	119987											
CACNA1H	8912	broad.mit.edu	37	chr16	1270167	1270167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccttcggacagcgctgcGtctccagccggccggcggcc	13	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:1270167G>A	uc002cks.2	+	35	6483	c.6235G>A	c.(6235-6237)GTC>ATC	p.V2079I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V2073I|CACNA1H_uc002cku.2_Missense_Mutation_p.V774I|CACNA1H_uc010brj.2_Missense_Mutation_p.V790I|CACNA1H_uc002ckv.2_Missense_Mutation_p.V768I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2079	Cytoplasmic (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACAGCGCTGCGTCTCCAGCCG	0.736													A	1270167	G	A	1270167	3	1	236	1	0	0	0	0	1	0	0	0	2545	1145	40	1	6369	1	CACNA1H	16	1270167	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	483898	1270167	89084586	811	119988											
ZNF598	90850	broad.mit.edu	37	chr16	2050159	2050159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggcagcgccaaccccacaGggcccggggttgctgcagtg	15	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:2050159G>T	uc002cof.1	-	11	1406	c.1391C>A	c.(1390-1392)CCT>CAT	p.P464H	ZNF598_uc002coe.1_Translation_Start_Site	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	464						intracellular	zinc ion binding			lung(1)|breast(1)	2						CAACCCCACAGGGCCCGGGGT	0.682													T	2050159	G	T	2050159	3	4	236	1	0	0	0	0	1	0	0	0	18025	1000	35	5	1339	5	ZNF598	16	2050159	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	779992	2050159	88304594	812	119989											
TSC2	7249	broad.mit.edu	37	chr16	2106227	2106227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgcgtccggaccgcGtcctctgtggacatagaggt	14	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:2106227G>A	uc002con.2	+	7	736	c.630G>A	c.(628-630)GCG>GCA	p.A210A	TSC2_uc010bsd.2_Silent_p.A210A|TSC2_uc002coo.2_Silent_p.A210A|TSC2_uc010uvv.1_Silent_p.A173A|TSC2_uc010uvw.1_Silent_p.A161A|TSC2_uc002cop.2_Silent_p.A10A	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	210	Required for interaction with TSC1.			A -> V (in Ref. 9; AAI50301).	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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TCCGGACCGCGTCCTCTGTGG	0.532			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2106227	G	A	2106227	2	1	236	1	0	0	0	0	0	0	0	1	16603	1132	40	1		1	TSC2	16	2106227	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	56068	2106227	88248526	813	119990											
RAB26	25837	broad.mit.edu	37	chr16	2203418	2203418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggcctcctgctgccgccCttgaacctggctgagctcag	13	15	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:2203418C>A	uc002cou.2	+	9	901	c.767C>A	c.(766-768)CCT>CAT	p.P256H	RAB26_uc010bsf.2_Missense_Mutation_p.P190H|TRAF7_uc002cow.2_5'Flank	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	256					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding				0						TGCTGCCGCCCTTGAACCTGG	0.627													A	2203418	C	A	2203418	3	1	236	1	0	0	0	0	1	0	0	0	12913	681	24	5	801	5	RAB26	16	2203418	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	97191	2203418	88151335	814	119991											
PKMYT1	9088	broad.mit.edu	37	chr16	3023060	3023060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcacttaggtccaggGcatccctgggaggagagagt	15	8	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:3023060G>A	uc002csn.2	-	9	1837	c.1394C>T	c.(1393-1395)GCC>GTC	p.A465V	PAQR4_uc002csj.3_3'UTR|PAQR4_uc002csk.3_3'UTR|PAQR4_uc002csl.3_3'UTR|PAQR4_uc010uwm.1_3'UTR|PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P478S|PKMYT1_uc002cso.2_Missense_Mutation_p.A396V|PKMYT1_uc002csp.2_Missense_Mutation_p.A456V|PKMYT1_uc002csq.2_Missense_Mutation_p.A456V	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	465	Interaction with CDC2-CCNB1.|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			stomach(1)	1						TAGGTCCAGGGCATCCCTGGG	0.612													A	3023060	G	A	3023060	3	1	236	1	0	0	0	0	1	0	0	0	11978	1203	42	2	109	2	PKMYT1	16	3023060	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	819642	3023060	87331693	815	119992											
CLDN9	9080	broad.mit.edu	37	chr16	3063922	3063922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgctgcacgtgccccCcgccccaggtcgagcggccc	11	21	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:3063922C>A	uc010uwo.1	+	1	1466	c.559C>A	c.(559-561)CCG>ACG	p.P187T		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	187	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CACGTGCCCCCCGCCCCAGGT	0.721													A	3063922	C	A	3063922	3	1	236	1	0	0	0	0	1	0	0	0	3492	623	22	5	561	5	CLDN9	16	3063922	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	40862	3063922	87290831	816	119993											
CREBBP	1387	broad.mit.edu	37	chr16	3820836	3820836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatcccaggtggtgtcGtgtgctggagagatggcatg	17	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:3820836G>A	uc002cvv.2	-	14	2819	c.2615C>T	c.(2614-2616)ACG>ATG	p.T872M	CREBBP_uc002cvw.2_Missense_Mutation_p.T834M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	872					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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGTGGTGTCGTGTGCTGGAG	0.637			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3820836	G	A	3820836	3	1	236	1	0	0	0	0	1	0	0	0	3861	1145	40	1	4785	1	CREBBP	16	3820836	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	756914	3820836	86533917	817	119994											
ROGDI	79641	broad.mit.edu	37	chr16	4847715	4847715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctcggcccgggcccacCttgtccttgagctgctggca	14	16	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:4847715C>A	uc002cxv.2	-	10	924	c.822G>T	c.(820-822)AAG>AAT	p.K274N	ROGDI_uc002cxu.2_Missense_Mutation_p.K184N|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.K184N	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	274						intracellular				ovary(1)|skin(1)	2						CCGGGCCCACCTTGTCCTTGA	0.627													A	4847715	C	A	4847715	3	1	236	1	0	0	0	0	1	0	0	0	13520	695	24	5	49	5	ROGDI	16	4847715	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1026879	4847715	85507038	818	119995											
UBN1	29855	broad.mit.edu	37	chr16	4925334	4925334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctccaggcggtccaaacGgagattccagtggtgggacc	13	14	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:4925334G>A	uc002cyb.2	+	15	3262	c.2923G>A	c.(2923-2925)GGA>AGA	p.G975R	UBN1_uc010uxw.1_Missense_Mutation_p.G975R|UBN1_uc002cyc.2_Missense_Mutation_p.G975R	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	975	Ser-rich.				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			skin(2)	2						CGGTCCAAACGGAGATTCCAG	0.577													A	4925334	G	A	4925334	3	1	236	1	0	0	0	0	1	0	0	0	16889	1117	39	1	2977	1	UBN1	16	4925334	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	77619	4925334	85429419	819	119996											
USP7	7874	broad.mit.edu	37	chr16	8999108	8999108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtcgaacagacaggtcGtcatcgtgacccccataatt	9	12	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:8999108G>A	uc002czl.2	-	14	1708	c.1509C>T	c.(1507-1509)GAC>GAT	p.D503D	USP7_uc010uyk.1_Silent_p.D404D|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.D404D|USP7_uc002czk.2_Silent_p.D487D|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	503					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			ovary(3)	3						CAGACAGGTCGTCATCGTGAC	0.423											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	8999108	G	A	8999108	2	1	236	1	0	0	0	0	0	0	0	1	17085	1136	40	1		1	USP7	16	8999108	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4073774	8999108	81355645	820	119997											
CIITA	4261	broad.mit.edu	37	chr16	11000900	11000900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagcacgtgcggaccGgcaccggcggagccctgctc	14	17	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:11000900G>A	uc002dai.3	+	11	1684	c.1551G>A	c.(1549-1551)CCG>CCA	p.P517P	CIITA_uc002daj.3_Silent_p.P518P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.P517P|CIITA_uc002dah.2_Silent_p.P469P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	517	NACHT.				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)	1						CGTGCGGACCGGCACCGGCGG	0.662			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								A	11000900	G	A	11000900	2	1	236	1	0	0	0	0	0	0	0	1	3428	1103	39	1		1	CIITA	16	11000900	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2001792	11000900	79353853	821	119998											
KIAA0430	9665	broad.mit.edu	37	chr16	15718923	15718923	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccccgagtttttcggcgtCgacactgcagcacttgagtt	10	13	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:15718923C>T	uc002ddr.2	-	9	2254	c.2061G>A	c.(2059-2061)TCG>TCA	p.S687S	KIAA0430_uc002ddq.2_Silent_p.S543S|KIAA0430_uc010uzv.1_Silent_p.S683S|KIAA0430_uc010uzw.1_Silent_p.S685S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	686						peroxisome	nucleotide binding|RNA binding				0						TTTTCGGCGTCGACACTGCAG	0.498													T	15718923	C	T	15718923	2	4	236	1	0	0	0	0	0	0	0	1	8177	871	31	1		1	KIAA0430	16	15718923	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4718023	15718923	74635830	822	119999											
MYH11	4629	broad.mit.edu	37	chr16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-													tcctgcacctgcgcctccagCttcttcttcttatgttccac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:15820794_15820796GCTT>G	uc002ddx.3	-	28	3895_3897	c.3788_3790AAGC>C	c.(3787-3792)aagctg>aCtg	p.1263_1264KL>T	MYH11_uc002ddv.3_In_Frame_Del_p.1263_1264KL>T|MYH11_uc002ddw.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc002ddy.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc010bvg.3_In_Frame_Del_p.1088_1089KL>T|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1256			Missing (in AAT4).		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	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(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						TGCGCCTCCAGCTTCTTCTTCTT	0.616			T	CBFB	AML								-	15820797	CTT	-	15820795	7	5	236	1	0	1	0	1	0	0	0	0	10031	796	28	0	2241	0	MYH11	16	15820795	In_Frame_Del	DEL	CTT	TCGA-F1-6874-01A-11D-1882-08	101872	15820795	74533958	823	120000											
C16orf63	123811	broad.mit.edu	37	chr16	15967449	15967449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccatccttagttccaCgcaagaaatgggctaaaatc	9	10	0	1	rs149912065	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:15967449C>T	uc002dec.1	-	4	352	c.347G>A	c.(346-348)CGT>CAT	p.R116H	C16orf63_uc002ded.1_Intron	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	hypothetical protein LOC123811	116					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding				0						CTTAGTTCCACGCAAGAAATG	0.408													T	15967449	C	T	15967449	3	4	236	1	0	0	0	0	1	0	0	0	1826	536	19	1	185	1	C16orf63	16	15967449	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	146654	15967449	74387304	824	120001											
TMC7	79905	broad.mit.edu	37	chr16	19020719	19020719	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaattatgcactgaacatctCtgagaagcggagactaaggt	10	7	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:19020719C>A	uc002dfq.2	+	2	423	c.293C>A	c.(292-294)TCT>TAT	p.S98Y	TMC7_uc010vao.1_Missense_Mutation_p.S98Y|TMC7_uc002dfp.2_Missense_Mutation_p.S98Y|TMC7_uc010vap.1_Translation_Start_Site	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	98	Extracellular (Potential).					integral to membrane				skin(2)|ovary(1)	3						CTGAACATCTCTGAGAAGCGG	0.468													A	19020719	C	A	19020719	3	1	236	1	0	0	0	0	1	0	0	0	15987	913	32	5	299	5	TMC7	16	19020719	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3053270	19020719	71334034	825	120002											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126435	19126435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcaccaccctcaccaTcgggggcctcggggggccac	13	17	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:19126435T>C	uc002dfu.3	+	1	1182	c.652T>C	c.(652-654)TCG>CCG	p.S218P	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	218	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						ACCCTCACCATCGGGGGCCTC	0.692											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	19126435	T	C	19126435	3	2	236	1	0	0	0	0	1	0	0	0	7925	1435	50	3	654	3	ITPRIPL2	16	19126435	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	105716	19126435	71228318	826	120003											
DNAH3	55567	broad.mit.edu	37	chr16	20990740	20990740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttgctattcaggagcGtcttgaaggttagaatcaat	10	8	4	2	rs145375625	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:20990740G>A	uc010vbe.1	-	50	7988	c.7988C>T	c.(7987-7989)ACG>ATG	p.T2663M	DNAH3_uc010vbd.1_Missense_Mutation_p.T98M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2663	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATTCAGGAGCGTCTTGAAGGT	0.483													A	20990740	G	A	20990740	3	1	236	1	0	0	0	0	1	0	0	0	4603	1145	40	1	4413	1	DNAH3	16	20990740	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1864305	20990740	69364013	827	120004											
DNAH3	55567	broad.mit.edu	37	chr16	21136501	21136501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccctgacttactttgtGtatcatgaaaagggaaacga	10	7	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:21136501G>A	uc010vbe.1	-	9	1399	c.1399C>T	c.(1399-1401)CAC>TAC	p.H467Y	DNAH3_uc002die.2_Missense_Mutation_p.H438Y	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	467	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTACTTTGTGTATCATGAAA	0.468													A	21136501	G	A	21136501	3	1	236	1	0	0	0	0	1	0	0	0	4603	1377	48	4	11166	4	DNAH3	16	21136501	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	145761	21136501	69218252	828	120005											
VWA3A	146177	broad.mit.edu	37	chr16	22166968	22166968	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccagaagcttcctctgGcaggcccaatccttcaggta	10	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:22166968G>A	uc010vbq.1	+	32	3582	c.3486G>A	c.(3484-3486)TGG>TGA	p.W1162*	VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Nonsense_Mutation_p.W240*|VWA3A_uc010bxe.1_Nonsense_Mutation_p.W264*	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1162						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		GCTTCCTCTGGCAGGCCCAAT	0.572													A	22166968	G	A	22166968	4	1	236	1	0	0	0	0	0	1	0	0	17237	1212	42	2	3612	2	VWA3A	16	22166968	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1030467	22166968	68187785	829	120006											
TNRC6A	27327	broad.mit.edu	37	chr16	24802194	24802194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacatcacctagaggggaacGaaagactgacaatgggacag	12	8	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:24802194G>A	uc002dmm.2	+	6	2345	c.2231G>A	c.(2230-2232)CGA>CAA	p.R744Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.R491Q|TNRC6A_uc010vcc.1_Missense_Mutation_p.R491Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R491Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R491Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	744	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AGAGGGGAACGAAAGACTGAC	0.478													A	24802194	G	A	24802194	3	1	236	1	0	0	0	0	1	0	0	0	16337	1058	37	1	2253	1	TNRC6A	16	24802194	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2635226	24802194	65552559	830	120007											
ARHGAP17	55114	broad.mit.edu	37	chr16	24960784	24960785	+	Frame_Shift_Ins	INS	-	-	T													ttctccacaagtcttgaagtINStttttgtcttgatcctgcac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:24960783_24960784G>GT	uc002dnb.3	-	12	1161_1162	c.1068_1069C>AC	c.(1066-1071)aaacttfs	p.K356fs	ARHGAP17_uc002dna.3_Frame_Shift_Ins_p.K83fs|ARHGAP17_uc002dnc.3_Frame_Shift_Ins_p.K356fs|ARHGAP17_uc010vcf.2_Frame_Shift_Ins_p.K177fs	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	356	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)		AAGTCTTGAAGTTTTTTGTCTT	0.332													T	24960785	-	T	24960784	7	5	236	1	0	1	1	0	0	0	0	0	867	1722	60	0	1609	0	ARHGAP17	16	24960784	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	158590	24960784	65393969	831	120008											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258123	25258125	+	In_Frame_Del	DEL	TCC	TCC	-													catcagaatcttctgcagctTcctcctcctccaccaagctg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:25258122_25258124TTCC>T	uc002dod.4	-	4	1800_1802	c.1393_1395GGAA>A	c.(1393-1395)gaa>A	p.E465del	ZKSCAN2_uc010vcl.2_In_Frame_Del_p.E261del|ZKSCAN2_uc002doe.2_In_Frame_Del_p.E465del	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	465					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)		CTTCTGCAGCTTCCTCCTCCTCC	0.463													-	25258125	TCC	-	25258123	7	5	236	1	0	1	0	1	0	0	0	0	17684	1783	62	0	1521	0	ZKSCAN2	16	25258123	In_Frame_Del	DEL	TCC	TCGA-F1-6874-01A-11D-1882-08	297339	25258123	65096630	832	120009											
IL21R	50615	broad.mit.edu	37	chr16	27460530	27460530	+	Frame_Shift_Del	DEL	C	C	-													ccagccccggggacgaaggaCccccccggagctacctccgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:27460529_27460529AC>A	uc002dor.2	+	9	2156	c.1608_1608AC>A	c.(1606-1608)ggafs	p.G536fs	IL21R_uc002doq.2_Frame_Shift_Del_p.G514fs|IL21R_uc002dos.2_Frame_Shift_Del_p.G514fs|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	514					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGACGAAGGACCCCCCCGGA	0.637			T	BCL6	NHL								-	27460530	C	-	27460530	7	5	236	1	0	1	0	1	0	0	0	0	7671	507	18	0	1573	0	IL21R	16	27460530	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	2202407	27460530	62894223	833	120010											
GTF3C1	2975	broad.mit.edu	37	chr16	27540000	27540000	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttggctagcccggcgttcaGcatatactggtacagacgct	11	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:27540000G>C	uc002dov.1	-	6	932	c.892C>G	c.(892-894)CTG>GTG	p.L298V	GTF3C1_uc002dou.2_Missense_Mutation_p.L298V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	298						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCGGCGTTCAGCATATACTGG	0.468													C	27540000	G	C	27540000	3	2	236	1	0	0	0	0	1	0	0	0	6872	962	34	5	5565	5	GTF3C1	16	27540000	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	79470	27540000	62814753	834	120011											
CD19	930	broad.mit.edu	37	chr16	28948647	28948647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgacagtgaggaggactcCgagttctatgagaacgactc	12	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:28948647C>T	uc002drs.2	+	9	1316	c.1254C>T	c.(1252-1254)TCC>TCT	p.S418S	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.S418S	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	418	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						AGGAGGACTCCGAGTTCTATG	0.637													T	28948647	C	T	28948647	2	4	236	1	0	0	0	0	0	0	0	1	2973	639	23	1		1	CD19	16	28948647	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1408647	28948647	61406106	835	120012											
TAOK2	9344	broad.mit.edu	37	chr16	29990825	29990825	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggggataacctgcatcgaGctgggtaagaacatcctccc	11	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:29990825G>C	uc002dva.1	+	8	1434	c.651G>C	c.(649-651)GAG>GAC	p.E217D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E217D|TAOK2_uc002dvc.1_Missense_Mutation_p.E217D|TAOK2_uc010bzm.1_Missense_Mutation_p.E217D|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	217	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCTGCATCGAGCTGGGTAAGA	0.547													C	29990825	G	C	29990825	3	2	236	1	0	0	0	0	1	0	0	0	15545	962	34	5	677	5	TAOK2	16	29990825	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1042178	29990825	60363928	836	120013											
HIRIP3	8479	broad.mit.edu	37	chr16	30005879	30005879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgcctcgctctcctcaCtttcttccctggcctgcttc	6	18	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30005879C>T	uc002dve.2	-	4	1048	c.587G>A	c.(586-588)AGT>AAT	p.S196N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	196	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						GCTCTCCTCACTTTCTTCCCT	0.512													T	30005879	C	T	30005879	3	4	236	1	0	0	0	0	1	0	0	0	7121	565	20	4	1099	4	HIRIP3	16	30005879	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	15054	30005879	60348874	837	120014											
SRCAP	10847	broad.mit.edu	37	chr16	30740725	30740725	+	Frame_Shift_Del	DEL	C	C	-													tgcctcctgtggaggcacctCccccttccctgcatgcctgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30740724_30740724TC>T	uc002dze.1	+	26	6343	c.5958_5958TC>T	c.(5956-5958)cctfs	p.P1986fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P1781fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1986					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)			TGGAGGCACCTCCCCCTTCCC	0.587													-	30740725	C	-	30740725	7	5	236	1	0	1	0	1	0	0	0	0	15134	855	30	0	6057	0	SRCAP	16	30740725	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	734846	30740725	59614028	838	120015											
SRCAP	10847	broad.mit.edu	37	chr16	30748452	30748452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaggaggaggaggggcCgggggctggggatgagagtt	23	5	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30748452C>T	uc002dze.1	+	34	7476	c.7091C>T	c.(7090-7092)CCG>CTG	p.P2364L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2159L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2364					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GAGGAGGGGCCGGGGGCTGGG	0.632													T	30748452	C	T	30748452	3	4	236	1	0	0	0	0	1	0	0	0	15134	652	23	1	7217	1	SRCAP	16	30748452	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7727	30748452	59606301	839	120016											
PHKG2	5261	broad.mit.edu	37	chr16	30762482	30762482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctactggccacgagtttGcggtgaagattatggaagtg	15	6	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30762482G>A	uc002dzk.1	+	3	244	c.151G>A	c.(151-153)GCG>ACG	p.A51T	PHKG2_uc002dzi.1_Missense_Mutation_p.A51T|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.A51T	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	51	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CCACGAGTTTGCGGTGAAGAT	0.582													A	30762482	G	A	30762482	3	1	236	1	0	0	0	0	1	0	0	0	11847	1319	46	2	157	2	PHKG2	16	30762482	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	14030	30762482	59592271	840	120017											
SETD1A	9739	broad.mit.edu	37	chr16	30976142	30976142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcgtcctctcagtttcGtagttctgatgcaaactacc	6	14	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30976142G>A	uc002ead.1	+	7	1765	c.1079G>A	c.(1078-1080)CGT>CAT	p.R360H		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	360	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						tcTCAGTTTCGTAGTTCTGAT	0.383													A	30976142	G	A	30976142	3	1	236	1	0	0	0	0	1	0	0	0	14130	1145	40	1	1101	1	SETD1A	16	30976142	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	213660	30976142	59378611	841	120018											
HSD3B7	80270	broad.mit.edu	37	chr16	30998233	30998233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggtgaaggccaccagatcAtgagggacttctaccgccag	12	12	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30998233A>G	uc002eaf.2	+	6	710	c.604A>G	c.(604-606)ATG>GTG	p.M202V	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.M202V	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	202					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				0						CCACCAGATCATGAGGGACTT	0.657													G	30998233	A	G	30998233	3	3	236	1	0	0	0	0	1	0	0	0	7392	217	8	3	622	3	HSD3B7	16	30998233	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	22091	30998233	59356520	842	120019											
ABCC12	94160	broad.mit.edu	37	chr16	48180287	48180287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaaaggatctccgccGgcctcgctggtccagatctg	11	14	3	1	rs41280929		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:48180287G>A	uc002efc.1	-	1	395	c.49C>T	c.(49-51)CGG>TGG	p.R17W	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.R17W|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	17						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GATCTCCGCCGGCCTCGCTGG	0.572													A	48180287	G	A	48180287	3	1	236	1	0	0	0	0	1	0	0	0	52	1115	39	1	4146	1	ABCC12	16	48180287	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	17182054	48180287	42174466	843	120020											
ZNF423	23090	broad.mit.edu	37	chr16	49669949	49669949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatgtggaaggtgccAtggatcttgagctcaagcgt	13	8	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:49669949A>G	uc002efs.2	-	5	3412	c.3114T>C	c.(3112-3114)CAT>CAC	p.H1038H	ZNF423_uc010vgn.1_Silent_p.H921H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1038	C2H2-type 24.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GGAAGGTGCCATGGATCTTGA	0.617													G	49669949	A	G	49669949	2	3	236	1	0	0	0	0	0	0	0	1	17895	214	8	3		3	ZNF423	16	49669949	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1489662	49669949	40684804	844	120021											
CHD9	80205	broad.mit.edu	37	chr16	53358288	53358288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggattaccaaatctgttGggcatgggaggactcctgac	13	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:53358288G>T	uc002ehb.2	+	38	8339	c.8175G>T	c.(8173-8175)TTG>TTT	p.L2725F	CHD9_uc002egy.2_Missense_Mutation_p.L2709F|CHD9_uc002ehc.2_Missense_Mutation_p.L2710F|CHD9_uc002ehf.2_Missense_Mutation_p.L1823F|CHD9_uc010cbw.2_Missense_Mutation_p.L791F	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2725	LXXLL motif 4.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CAAATCTGTTGGGCATGGGAG	0.493													T	53358288	G	T	53358288	3	4	236	1	0	0	0	0	1	0	0	0	3332	1339	47	5	8277	5	CHD9	16	53358288	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3688339	53358288	36996465	845	120022											
SLC12A3	6559	broad.mit.edu	37	chr16	56924230	56924230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgtgtcatgaggatgcGggagggactcaacgtgtcca	16	8	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:56924230G>A	uc010ccm.2	+	19	2359	c.2330G>A	c.(2329-2331)CGG>CAG	p.R777Q	SLC12A3_uc002ekd.3_Missense_Mutation_p.R777Q|SLC12A3_uc010ccn.2_Missense_Mutation_p.R776Q	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	777	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATGAGGATGCGGGAGGGACTC	0.517													A	56924230	G	A	56924230	3	1	236	1	0	0	0	0	1	0	0	0	14384	1116	39	1	2404	1	SLC12A3	16	56924230	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3565942	56924230	33430523	846	120023											
GPR114	221188	broad.mit.edu	37	chr16	57604383	57604383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaagagctcggtatacGgaccctgcacaatccccgtc	9	15	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:57604383G>A	uc002elx.3	+	10	1229	c.1144G>A	c.(1144-1146)GGA>AGA	p.G382R	GPR114_uc010vhr.1_Intron|GPR114_uc002ely.2_Missense_Mutation_p.G382R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	382	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						CTCGGTATACGGACCCTGCAC	0.622													A	57604383	G	A	57604383	3	1	236	1	0	0	0	0	1	0	0	0	6631	1117	39	1	1178	1	GPR114	16	57604383	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	680153	57604383	32750370	847	120024											
GPR97	222487	broad.mit.edu	37	chr16	57718088	57718088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcttcaacacctacttcGggcactacttcctgaagctg	9	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:57718088G>A	uc002emh.2	+	9	1229	c.1126G>A	c.(1126-1128)GGG>AGG	p.G376R	GPR97_uc010vhv.1_Missense_Mutation_p.G256R|GPR97_uc010cdd.2_Intron|GPR97_uc010cde.2_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	376	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						CACCTACTTCGGGCACTACTT	0.582													A	57718088	G	A	57718088	3	1	236	1	0	0	0	0	1	0	0	0	6720	1116	39	1	1160	1	GPR97	16	57718088	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	113705	57718088	32636665	848	120025											
CES2	8824	broad.mit.edu	37	chr16	66974389	66974389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctacctggaccaagtgGctgcactacgctgggtccag	15	12	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:66974389G>A	uc002eqr.2	+	5	1799	c.799G>A	c.(799-801)GCT>ACT	p.A267T	CES2_uc002eqq.2_Missense_Mutation_p.A267T|CES2_uc002eqs.2_Missense_Mutation_p.A110T	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	203					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGACCAAGTGGCTGCACTACG	0.607													A	66974389	G	A	66974389	3	1	236	1	0	0	0	0	1	0	0	0	3270	1203	42	2	817	2	CES2	16	66974389	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	9256301	66974389	23380364	849	120026											
B3GNT9	84752	broad.mit.edu	37	chr16	67183798	67183798	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttaaaaaaggtgtcgtcGaaggcccagagcaggatgtc	14	7	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:67183798G>A	uc002erf.2	-	2	912	c.591C>T	c.(589-591)TTC>TTT	p.F197F	uc002erg.1_Silent_p.S67S	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	197	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						AGGTGTCGTCGAAGGCCCAGA	0.637													A	67183798	G	A	67183798	2	1	236	1	0	0	0	0	0	0	0	1	1264	1049	37	1		1	B3GNT9	16	67183798	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	209409	67183798	23170955	850	120027											
LRRC36	55282	broad.mit.edu	37	chr16	67381488	67381488	+	Frame_Shift_Del	DEL	A	A	-													aaattttcttttagaggtggAaaaaaggtaagaagattctt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:67381487_67381487GA>G	uc002esv.3	+	3	500	c.481_481GA>G	c.(481-483)gaafs	p.E161fs	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Frame_Shift_Del_p.E40fs|LRRC36_uc002esx.3_Frame_Shift_Del_p.E40fs|LRRC36_uc010vjk.2_Frame_Shift_Del_p.E40fs|LRRC36_uc010vjl.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	161										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)		TTTAGAGGTGGAAAAAAGGTA	0.373													-	67381488	A	-	67381488	7	5	236	1	0	1	0	1	0	0	0	0	8990	246	9	0	524	0	LRRC36	16	67381488	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	197690	67381488	22973265	851	120028											
PSKH1	5681	broad.mit.edu	37	chr16	67943339	67943339	+	Frame_Shift_Del	DEL	G	G	-													aatctgctctactaccatccGggcactgactccaagatcat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:67943338_67943338CG>C	uc002euv.3	+	1	856	c.686_686CG>C	c.(685-687)ccgfs	p.P229fs	PSKH1_uc010cet.2_Frame_Shift_Del_p.P229fs	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	229	Protein kinase.					Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TACTACCATCCGGGCACTGAC	0.577													-	67943339	G	-	67943339	7	5	236	1	0	1	0	1	0	0	0	0	12664	1103	39	0	689	0	PSKH1	16	67943339	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	561851	67943339	22411414	852	120029											
CDH3	1001	broad.mit.edu	37	chr16	68714935	68714935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggacggctccaccaccaCggcagtggcagtagtggaga	16	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:68714935C>T	uc002ewf.2	+	8	2064	c.932C>T	c.(931-933)ACG>ATG	p.T311M	CDH3_uc010vli.1_Missense_Mutation_p.T256M	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	311	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TCCACCACCACGGCAGTGGCA	0.547													T	68714935	C	T	68714935	3	4	236	1	0	0	0	0	1	0	0	0	3111	536	19	1	962	1	CDH3	16	68714935	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	771596	68714935	21639818	853	120030											
CDH1	999	broad.mit.edu	37	chr16	68847398	68847398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcattttgaaaacagcaaaGgtttgtatggtacctggcaa	11	6	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:68847398G>T	uc002ewg.1	+	9	1444	c.1320G>T	c.(1318-1320)AAG>AAT	p.K440N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	440	Cadherin 3.|Extracellular (Potential).				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	p.Y380_K440del(5)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		AAACAGCAAAGGTTTGTATGG	0.458			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68847398	G	T	68847398	3	4	236	1	0	0	0	0	1	0	0	0	3095	1014	35	5	1354	5	CDH1	16	68847398	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	132463	68847398	21507355	854	120031											
HYDIN	54768	broad.mit.edu	37	chr16	70867810	70867810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcacccacatcgcctgtGttcatcatgaggatgcgacg	10	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:70867810G>A	uc002ezr.2	-	79	13784	c.13656C>T	c.(13654-13656)AAC>AAT	p.N4552N	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4553										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CATCGCCTGTGTTCATCATGA	0.582													A	70867810	G	A	70867810	2	1	236	1	0	0	0	0	0	0	0	1	7467	1368	48	4		4	HYDIN	16	70867810	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2020412	70867810	19486943	855	120032											
ZFHX3	463	broad.mit.edu	37	chr16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-													agtgtggctgaagacctgctCcccccctccattctgcaggt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:72991757_72991757TC>T	uc002fck.3	-	1	2961	c.2288_2288GA>A	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					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)				GAAGACCTGCTCCCCCCCTCC	0.622													-	72991758	C	-	72991758	7	5	236	1	0	1	0	1	0	0	0	0	17631	864	30	0	8860	0	ZFHX3	16	72991758	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	2123948	72991758	17362995	856	120033											
FA2H	79152	broad.mit.edu	37	chr16	74752999	74752999	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactcgatgaggctccagaGgaatgtccccagcatgaaga	12	10	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:74752999G>T	uc002fde.1	-	5	741	c.673C>A	c.(673-675)CTC>ATC	p.L225I	FA2H_uc002fdd.1_5'Flank|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	225	Helical; (Potential).				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						AGGCTCCAGAGGAATGTCCCC	0.592													T	74752999	G	T	74752999	3	4	236	1	0	0	0	0	1	0	0	0	5352	1000	35	5	457	5	FA2H	16	74752999	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1761241	74752999	15601754	857	120034											
CHST5	23563	broad.mit.edu	37	chr16	75563882	75563882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacaggtttcggctctgtGgcatgtaggcatcaaacacg	13	10	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:75563882G>A	uc002fei.2	-	3	1796	c.401C>T	c.(400-402)CCA>CTA	p.P134L	CHST5_uc002fej.1_Missense_Mutation_p.P140L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	134	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TCGGCTCTGTGGCATGTAGGC	0.632													A	75563882	G	A	75563882	3	1	236	1	0	0	0	0	1	0	0	0	3407	1348	47	4	838	4	CHST5	16	75563882	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	810883	75563882	14790871	858	120035											
CHST5	23563	broad.mit.edu	37	chr16	75563934	75563934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaagatagagcgcatcaGgtcgcgcacggccatgtgca	12	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:75563934G>A	uc002fei.2	-	3	1744	c.349C>T	c.(349-351)CTG>TTG	p.L117L	CHST5_uc002fej.1_Silent_p.L123L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	117	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GAGCGCATCAGGTCGCGCACG	0.617													A	75563934	G	A	75563934	2	1	236	1	0	0	0	0	0	0	0	1	3407	991	35	4		4	CHST5	16	75563934	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	52	75563934	14790819	859	120036											
MON1B	22879	broad.mit.edu	37	chr16	77227571	77227571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcaagcccatctactcGcggtatggtagtgtggaggc	15	10	1	0	rs151075634		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:77227571G>A	uc002fez.2	+	3	702	c.372G>A	c.(370-372)TCG>TCA	p.S124S	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	124							protein binding				0						CCATCTACTCGCGGTATGGTA	0.617													A	77227571	G	A	77227571	2	1	236	1	0	0	0	0	0	0	0	1	9699	1074	38	1		1	MON1B	16	77227571	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1663637	77227571	13127182	860	120037											
NUDT7	283927	broad.mit.edu	37	chr16	77775613	77775613	+	Frame_Shift_Del	DEL	T	T	-													ccacaggtccatgaccagcaTtacgtcacacgtcttggtca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:77775612_77775612AT>A	uc010chd.3	+	3	573	c.482_482AT>A	c.(481-483)catfs	p.H161fs	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Frame_Shift_Del_p.H146fs|NUDT7_uc010vnj.2_Frame_Shift_Del_p.H108fs	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	161	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CATGACCAGCATTACGTCACA	0.478													-	77775613	T	-	77775613	7	5	236	1	0	1	0	1	0	0	0	0	10744	1490	52	0	497	0	NUDT7	16	77775613	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	548042	77775613	12579140	861	120038											
C16orf7	9605	broad.mit.edu	37	chr16	89783151	89783151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccaccaagcttggcggcCgtcgactgggccctctccag	12	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:89783151C>T	uc002fom.1	-	3	380	c.255G>A	c.(253-255)ACG>ACA	p.T85T	C16orf7_uc002fol.1_Silent_p.T15T|uc002fon.1_RNA|uc002foo.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	85					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTTGGCGGCCGTCGACTGGG	0.652													T	89783151	C	T	89783151	2	4	236	1	0	0	0	0	0	0	0	1	1828	639	23	1		1	C16orf7	16	89783151	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	12007538	89783151	571602	862	120039											
GEMIN4	50628	broad.mit.edu	37	chr17	650231	650231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggctgaaggaagtcagaCtgtcgcacagccggtagctg	14	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:650231C>T	uc002frs.1	-	2	1171	c.1052G>A	c.(1051-1053)AGT>AAT	p.S351N	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	351					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGAAGTCAGACTGTCGCACAG	0.637													T	650231	C	T	650231	3	4	236	1	0	0	0	0	1	0	0	0	6330	565	20	4	2128	4	GEMIN4	17	650231	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08		650231	80544979	863	120040											
SMYD4	114826	broad.mit.edu	37	chr17	1704002	1704002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgatggatgatgaggcattgGaaagttgttcattctcctcc	11	8	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:1704002G>T	uc002ftm.3	-	5	854	c.686C>A	c.(685-687)TCC>TAC	p.S229Y	SMYD4_uc002ftn.1_Missense_Mutation_p.S84Y	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	229							zinc ion binding			skin(3)|kidney(2)	5						TGAGGCATTGGAAAGTTGTTC	0.498													T	1704002	G	T	1704002	3	4	236	1	0	0	0	0	1	0	0	0	14824	1174	41	5	1756	5	SMYD4	17	1704002	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1053771	1704002	79491208	864	120041											
METT10D	79066	broad.mit.edu	37	chr17	2323543	2323543	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctccacccctcccttTtcctcactcctttcatcctc	0	21	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:2323543T>C	uc002fut.2	-	10	1558	c.1410A>G	c.(1408-1410)GAA>GAG	p.E470E	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.E252E	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	470							methyltransferase activity				0						CCCCTCCCTTTTCCTCACTCC	0.622													C	2323543	T	C	2323543	2	2	236	1	0	0	0	0	0	0	0	1	9490	1838	64	3		3	METT10D	17	2323543	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	619541	2323543	78871667	865	120042											
RABEP1	9135	broad.mit.edu	37	chr17	5284683	5284683	+	Splice_Site	DEL	G	G	-													ttcaaaacttgtattttttaGgctaccgttgaacaactaat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:5284683delG	uc002gbm.3	+	17	2595	c.2371_splice	c.e17-1	p.A791_splice	RABEP1_uc010vsw.1_Splice_Site_p.A748_splice|RABEP1_uc002gbl.3_Splice_Site_p.A758_splice|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						GTATTTTTTAGGCTACCGTTG	0.383													-	5284683	G	-	5284683	8	5	236	1	0	1	0	1	0	0	1	0	12961	1014	35	0	2436	0	RABEP1	17	5284683	Splice_Site	DEL	G	TCGA-F1-6874-01A-11D-1882-08	2961140	5284683	75910527	866	120043											
MED31	51003	broad.mit.edu	37	chr17	6547901	6547901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgttcatcaataaatttCgcacactgagcattcaccag	6	11	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:6547901C>T	uc002gdg.3	-	4	388	c.282G>A	c.(280-282)GCG>GCA	p.A94A	MED31_uc002gdh.3_RNA	NM_016060	NP_057144	Q9Y3C7	MED31_HUMAN	mediator of RNA polymerase II transcription,	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding				0						CAATAAATTTCGCACACTGAG	0.458													T	6547901	C	T	6547901	2	4	236	1	0	0	0	0	0	0	0	1	9449	871	31	1		1	MED31	17	6547901	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1263218	6547901	74647309	867	120044											
NLGN2	57555	broad.mit.edu	37	chr17	7319293	7319293	+	Frame_Shift_Del	DEL	G	G	-													agtgggcagatgcggcgcacGgggatgaactgccctatgtc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7319292_7319292CG>C	uc002ggt.1	+	5	1573	c.1500_1500CG>C	c.(1498-1500)cacfs	p.H500fs		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	500					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)				ATGCGGCGCACGGGGATGAAC	0.612													-	7319293	G	-	7319293	7	5	236	1	0	1	0	1	0	0	0	0	10462	1116	39	0	1523	0	NLGN2	17	7319293	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	771392	7319293	73875917	868	120045											
AMAC1L3	643664	broad.mit.edu	37	chr17	7385797	7385797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtggactgttgggcaGcatcctaggactaatcatca	12	9	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7385797G>T	uc010cmj.1	+	2	609	c.494G>T	c.(493-495)AGC>ATC	p.S165I	ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	165	DUF6 1.|Helical; (Potential).					integral to membrane					0		Prostate(122;0.173)				CTGTTGGGCAGCATCCTAGGA	0.587													T	7385797	G	T	7385797	3	4	236	1	0	0	0	0	1	0	0	0	561	971	34	5	500	5	AMAC1L3	17	7385797	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	66504	7385797	73809413	869	120046											
POLR2A	5430	broad.mit.edu	37	chr17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctacgacctttgcaaggGcaaaaacatatgcgagggtg	12	8	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7399844G>A	uc002ghf.3	+	4	683	c.449G>A	c.(448-450)GGC>GAC	p.G150D	POLR2A_uc002ghe.2_Missense_Mutation_p.G150D	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	150					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			pancreas(1)	1		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537													A	7399844	G	A	7399844	3	1	236	1	0	0	0	0	1	0	0	0	12214	1203	42	2	463	2	POLR2A	17	7399844	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	14047	7399844	73795366	870	120047											
CD68	968	broad.mit.edu	37	chr17	7483329	7483329	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactcacaaccccaccaccaCcagccatggaaacgtcacag	5	19	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7483329C>G	uc002ghv.2	+	2	442	c.251C>G	c.(250-252)ACC>AGC	p.T84S	CD68_uc002ghu.2_Missense_Mutation_p.T57S	NM_001251	NP_001242	P34810	CD68_HUMAN	CD68 antigen isoform A	84	Mucin-like.|Extracellular (Potential).|1.|2 X 30 AA tandem repeats.					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane					0						cccaccaccaccaGCCATGGA	0.328													G	7483329	C	G	7483329	3	3	236	1	0	0	0	0	1	0	0	0	3030	507	18	5	257	5	CD68	17	7483329	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	83485	7483329	73711881	871	120048											
TP53	7157	broad.mit.edu	37	chr17	7579348	7579348	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggctgtcccagaatgcaaGaagcccagacggaaaccgta	11	11	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7579348G>C	uc002gim.2	-	4	533	c.339C>G	c.(337-339)TTC>TTG	p.F113L	TP53_uc002gig.1_Missense_Mutation_p.F113L|TP53_uc002gih.2_Missense_Mutation_p.F113L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.F113L|TP53_uc010cni.1_Missense_Mutation_p.F113L|TP53_uc002gij.2_Missense_Mutation_p.F113L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.F74L|TP53_uc010cnk.1_Missense_Mutation_p.F128L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	113	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> S (in sporadic cancers; somatic mutation).|F -> I (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F113C(8)|p.0?(7)|p.F113S(4)|p.F113V(4)|p.F113L(3)|p.G59fs*23(3)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CAGAATGCAAGAAGCCCAGAC	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			C	7579348	G	C	7579348	3	2	236	1	0	0	0	0	1	0	0	0	16378	933	33	5	963	5	TP53	17	7579348	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	96019	7579348	73615862	872	120049											
AURKB	9212	broad.mit.edu	37	chr17	8108691	8108691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaggtagtccagggtgCcacacattgtcttcctcctg	13	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:8108691C>T	uc002gkm.2	-	8	765	c.704G>A	c.(703-705)GGC>GAC	p.G235D	AURKB_uc010cnu.2_Missense_Mutation_p.G55D|AURKB_uc002gkn.2_Missense_Mutation_p.G236D|AURKB_uc010vuu.1_Missense_Mutation_p.G194D|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	235	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			lung(2)|breast(1)|central_nervous_system(1)	4						GTCCAGGGTGCCACACATTGT	0.577													T	8108691	C	T	8108691	3	4	236	1	0	0	0	0	1	0	0	0	1223	739	26	2	338	2	AURKB	17	8108691	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	529343	8108691	73086519	873	120050											
WDR16	146845	broad.mit.edu	37	chr17	9546391	9546391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttataatgagggtgaagtgaCtcacgttggggtgggacaca	15	5	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:9546391C>G	uc002gly.2	+	14	1808	c.1739C>G	c.(1738-1740)ACT>AGT	p.T580S	USP43_uc002gma.3_5'Flank|USP43_uc010cod.2_5'Flank|USP43_uc010vva.1_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.T512S|WDR16_uc010coc.2_Missense_Mutation_p.T590S	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	580	WD 10.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GGTGAAGTGACTCACGTTGGG	0.443													G	9546391	C	G	9546391	3	3	236	1	0	0	0	0	1	0	0	0	17273	565	20	5	1793	5	WDR16	17	9546391	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1437700	9546391	71648819	874	120051											
GAS7	8522	broad.mit.edu	37	chr17	9828811	9828811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagcctgtgtggactttcTccgcgccttcttgatgtcct	9	14	2	1	rs145454710		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:9828811T>C	uc002gmg.1	-	11	1281	c.1120A>G	c.(1120-1122)AGA>GGA	p.R374G	GAS7_uc010vvc.1_Missense_Mutation_p.R188G|GAS7_uc002gmh.1_Missense_Mutation_p.R234G|GAS7_uc010vvd.1_Missense_Mutation_p.R326G|GAS7_uc002gmi.2_Missense_Mutation_p.R310G|GAS7_uc002gmj.1_Missense_Mutation_p.R314G|GAS7_uc010coh.1_Missense_Mutation_p.R314G	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	374	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTGGACTTTCTCCGCGCCTTC	0.597			T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	9828811	T	C	9828811	3	2	236	1	0	0	0	0	1	0	0	0	6250	1559	54	3	326	3	GAS7	17	9828811	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	282420	9828811	71366399	875	120052											
MYH2	4620	broad.mit.edu	37	chr17	10436629	10436629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcctctggtactccActcttgccaagaaccctctg	5	18	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:10436629A>G	uc010coi.2	-	21	2542	c.2414T>C	c.(2413-2415)GTG>GCG	p.V805A	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.V805A|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	805	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTGGTACTCCACTCTTGCCAA	0.458													G	10436629	A	G	10436629	3	3	236	1	0	0	0	0	1	0	0	0	10035	159	6	3	3491	3	MYH2	17	10436629	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	607818	10436629	70758581	876	120053											
MYOCD	93649	broad.mit.edu	37	chr17	12626278	12626278	+	Frame_Shift_Del	DEL	A	A	-													agggccactggagctggtggAaaaaaacattcttcctgtgg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:12626278delA	uc002gnn.2	+	5	667	c.368delA	c.(367-369)GAAfs	p.E123fs	MYOCD_uc002gno.2_Frame_Shift_Del_p.E123fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.E27fs	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	123	RPEL 3.				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			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GAGCTGGTGGAAAAAAACATT	0.468													-	12626278	A	-	12626278	7	5	236	1	0	1	0	1	0	0	0	0	10087	246	9	0	386	0	MYOCD	17	12626278	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	2189649	12626278	68568932	877	120054											
MYO15A	51168	broad.mit.edu	37	chr17	18034842	18034842	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatccaggatcgtgttTcaggtgggccaccccctccc	11	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:18034842T>C	uc010vxh.1	+	9	4541	c.4203T>C	c.(4201-4203)TTT>TTC	p.F1401F		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1401	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GGATCGTGTTTCAGGTGGGCC	0.612													C	18034842	T	C	18034842	2	2	236	1	0	0	0	0	0	0	0	1	10063	1780	62	3		3	MYO15A	17	18034842	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	5408564	18034842	63160368	878	120055											
LLGL1	3996	broad.mit.edu	37	chr17	18144927	18144927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacctgggtgacgtccacGtcttctcggtgcctggcctg	12	15	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:18144927G>A	uc002gsp.2	+	18	2726	c.2665G>A	c.(2665-2667)GTC>ATC	p.V889I		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	889	WD 13.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TGACGTCCACGTCTTCTCGGT	0.637													A	18144927	G	A	18144927	3	1	236	1	0	0	0	0	1	0	0	0	8833	1145	40	1	2735	1	LLGL1	17	18144927	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	110085	18144927	63050283	879	120056											
SLC13A2	9058	broad.mit.edu	37	chr17	26817589	26817589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgtgtcctcctcatcGttggggtgcggcctgccccg	12	18	1	0	rs11568463		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:26817589G>A	uc002hbh.2	+	3	416	c.349G>A	c.(349-351)GTT>ATT	p.V117I	SLC13A2_uc010wal.1_Missense_Mutation_p.V74I|SLC13A2_uc010wam.1_Missense_Mutation_p.V73I|SLC13A2_uc010wan.1_Missense_Mutation_p.V166I|SLC13A2_uc010wao.1_Missense_Mutation_p.V74I|SLC13A2_uc002hbi.2_Missense_Mutation_p.V46I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	117	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTCCTCATCGTTGGGGTGCG	0.607													A	26817589	G	A	26817589	3	1	236	1	0	0	0	0	1	0	0	0	14392	1145	40	1	506	1	SLC13A2	17	26817589	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	8672662	26817589	54377621	880	120057											
FOXN1	8456	broad.mit.edu	37	chr17	26861463	26861463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagggctgcctgtgggccCtcaatccggccaagatcgac	13	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:26861463C>A	uc010crm.2	+	7	1240	c.1042C>A	c.(1042-1044)CTC>ATC	p.L348I	FOXN1_uc002hbj.2_Missense_Mutation_p.L348I	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	348	Fork-head.				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			skin(1)	1	Lung NSC(42;0.00431)					CCTGTGGGCCCTCAATCCGGC	0.537													A	26861463	C	A	26861463	3	1	236	1	0	0	0	0	1	0	0	0	6019	681	24	5	1064	5	FOXN1	17	26861463	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	43874	26861463	54333747	881	120058											
RASL10B	91608	broad.mit.edu	37	chr17	34062267	34062267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaagagtgccatcgtgCgccagttcttgtacaacgag	13	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:34062267C>T	uc002hju.2	+	2	430	c.64C>T	c.(64-66)CGC>TGC	p.R22C		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	22	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCATCGTGCGCCAGTTCTT	0.672													T	34062267	C	T	34062267	3	4	236	1	0	0	0	0	1	0	0	0	13080	768	27	1	66	1	RASL10B	17	34062267	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7200804	34062267	47132943	882	120059											
ACACA	31	broad.mit.edu	37	chr17	35687288	35687288	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagaacctattatgaatcGagagtgctggttcagctcca	9	10	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:35687288G>A	uc002hnm.2	-	3	243	c.52C>T	c.(52-54)CGA>TGA	p.R18*	ACACA_uc002hnn.2_Nonsense_Mutation_p.R18*|ACACA_uc002hno.2_Nonsense_Mutation_p.R55*|ACACA_uc010cuz.2_Nonsense_Mutation_p.R18*|ACACA_uc002hnq.2_5'UTR|ACACA_uc002hnp.1_RNA|ACACA_uc002hnr.1_RNA	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	18					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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATTATGAATCGAGAGTGCTGG	0.473													A	35687288	G	A	35687288	4	1	236	1	0	0	0	0	0	1	0	0	106	1066	37	1	7261	1	ACACA	17	35687288	Nonsense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1625021	35687288	45507922	883	120060											
DUSP14	11072	broad.mit.edu	37	chr17	35872931	35872933	+	In_Frame_Del	DEL	AGA	AGA	-													catagttcccgacgtctatgAgaaggagtcccgacacctga							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:35872930_35872932GAGA>G	uc002hnx.2	+	2	850_852	c.556_558GAGA>G	c.(556-558)gag>G	p.E186del	DUSP14_uc002hnz.2_In_Frame_Del_p.E173del|DUSP14_uc021tvt.1_In_Frame_Del_p.E186del	NM_007026	NP_008957	O95147	DUS14_HUMAN	Homo sapiens dual specificity phosphatase 14 (DUSP14), mRNA.	186							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)				CGACGTCTATGAGAAGGAGTCCC	0.571													-	35872933	AGA	-	35872931	7	5	236	1	0	1	0	1	0	0	0	0	4814	304	11	0	559	0	DUSP14	17	35872931	In_Frame_Del	DEL	AGA	TCGA-F1-6874-01A-11D-1882-08	185643	35872931	45322279	884	120061											
PLXDC1	57125	broad.mit.edu	37	chr17	37243886	37243886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggggtgaactccacggccGacatgctggtgaccttgctg	14	11	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:37243886G>A	uc002hrg.2	-	8	1093	c.881C>T	c.(880-882)TCG>TTG	p.S294L	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.S2L|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	294	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						CTCCACGGCCGACATGCTGGT	0.433													A	37243886	G	A	37243886	3	1	236	1	0	0	0	0	1	0	0	0	12117	1059	37	1	649	1	PLXDC1	17	37243886	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1370955	37243886	43951324	885	120062											
C17orf37	84299	broad.mit.edu	37	chr17	37885823	37885823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgatcttttctagggtTtctccattactggctcttcg	9	9	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:37885823T>G	uc002hsq.2	-	4	340	c.300A>C	c.(298-300)GAA>GAC	p.E100D		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	100					cell redox homeostasis	cytosol|membrane	selenium binding				0	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)			TTTCTAGGGTTTCTCCATTAC	0.547													G	37885823	T	G	37885823	3	3	236	1	0	0	0	0	1	0	0	0	1854	1838	64	5	51	5	C17orf37	17	37885823	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	641937	37885823	43309387	886	120063											
PSMD3	5709	broad.mit.edu	37	chr17	38142881	38142881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcacgggaaaagctgcGtcgacacccctcctgcctga	10	18	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:38142881G>A	uc002htn.1	+	3	629	c.465G>A	c.(463-465)GCG>GCA	p.A155A	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.A56A	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	155					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 complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					GAAAAGCTGCGTCGACACCCC	0.522													A	38142881	G	A	38142881	2	1	236	1	0	0	0	0	0	0	0	1	12699	1132	40	1		1	PSMD3	17	38142881	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	257058	38142881	43052329	887	120064											
THRA	7067	broad.mit.edu	37	chr17	38233862	38233862	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttgtgagggctgcaagGtatggaagctacctcctgcc	12	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:38233862G>A	uc002htw.2	+	4	705	c.222_splice	c.e4+1	p.K74_splice	THRA_uc010cwp.1_Splice_Site_p.K74_splice|THRA_uc002htv.2_Splice_Site_p.K74_splice|THRA_uc002htx.2_Splice_Site_p.K74_splice	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2						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				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGGCTGCAAGGTATGGAAGCT	0.507													A	38233862	G	A	38233862	5	1	236	1	0	0	0	0	0	0	1	0	15870	1275	44	4	233	4	THRA	17	38233862	Splice_Site	SNP	G	TCGA-F1-6874-01A-11D-1882-08	90981	38233862	42961348	888	120065											
TNS4	84951	broad.mit.edu	37	chr17	38652589	38652595	+	Frame_Shift_Del	DEL	GGGTGCA	GGGTGCA	-													gcaggctggggctgggtgctGggtgcagggtcctcctgggc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:38652588_38652594TGGGTGCA>T	uc010cxb.3	-	1	248_254	c.84_90TGCACCCA>A	c.(82-90)ctgcacccafs	p.L28fs		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	28					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)			GGCTGGGTGCTGGGTGCAGGGTCCTCC	0.676													-	38652595	GGGTGCA	-	38652589	7	5	236	1	0	1	0	1	0	0	0	0	16342	1348	47	0	2106	0	TNS4	17	38652589	Frame_Shift_Del	DEL	GGGTGCA	TCGA-F1-6874-01A-11D-1882-08	418727	38652589	42542621	889	120066											
KRT12	3859	broad.mit.edu	37	chr17	39019563	39019563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgcagtaatcgccctcGgcttcggccaaggagtcctc	12	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39019563G>A	uc002hvk.2	-	6	1152	c.1128C>T	c.(1126-1128)GCC>GCT	p.A376A		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	376	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				AATCGCCCTCGGCTTCGGCCA	0.612													A	39019563	G	A	39019563	2	1	236	1	0	0	0	0	0	0	0	1	8449	1103	39	1		1	KRT12	17	39019563	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	366974	39019563	42175647	890	120067											
KRT33B	3884	broad.mit.edu	37	chr17	39525807	39525807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtagctggccaggcGgtcgttcaggaactgcatag	14	11	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39525807G>T	uc002hwl.2	-	1	241	c.196C>A	c.(196-198)CGC>AGC	p.R66S		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	66	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				CTGGCCAGGCGGTCGTTCAGG	0.617													T	39525807	G	T	39525807	3	4	236	1	0	0	0	0	1	0	0	0	8470	1116	39	5	1046	5	KRT33B	17	39525807	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	506244	39525807	41669403	891	120068											
JUP	3728	broad.mit.edu	37	chr17	39680055	39680055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtccctcgagcaggctGcggtaggtggcaatctcctg	13	13	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39680055G>A	uc010wfs.1	-	9	1640	c.1632C>T	c.(1630-1632)CGC>CGT	p.R544R	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Silent_p.R381R	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					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			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGAGCAGGCTGCGGTAGGTGG	0.587													A	39680055	G	A	39680055	2	1	236	1	0	0	0	0	0	0	0	1	7972	1306	46	2		2	JUP	17	39680055	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	154248	39680055	41515155	892	120069											
JUP	3728	broad.mit.edu	37	chr17	39680717	39680717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtcactcaggatcttggCgagatcggtgcccggagcgg	15	11	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39680717C>T	uc010wfs.1	-	7	1233	c.1225G>A	c.(1225-1227)GCC>ACC	p.A409T	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Missense_Mutation_p.A246T	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					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			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGGATCTTGGCGAGATCGGTG	0.577													T	39680717	C	T	39680717	3	4	236	1	0	0	0	0	1	0	0	0	7972	768	27	1		1	JUP	17	39680717	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	662	39680717	41514493	893	120070											
FKBP10	60681	broad.mit.edu	37	chr17	39969513	39969513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacggcacttttgaagatgGcaagaagtttgattcaaggt	11	6	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39969513G>A	uc002hxv.2	+	1	552	c.227G>A	c.(226-228)GGC>GAC	p.G76D	SC65_uc002hxt.2_5'Flank|SC65_uc002hxu.2_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	76	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TTTGAAGATGGCAAGAAGTTT	0.562													A	39969513	G	A	39969513	3	1	236	1	0	0	0	0	1	0	0	0	5902	1203	42	2	229	2	FKBP10	17	39969513	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	288796	39969513	41225697	894	120071											
HSD17B1	3292	broad.mit.edu	37	chr17	40706846	40706846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgacgttccggcaaaggccGaggctggggccgaggctggg	20	11	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:40706846G>A	uc002hzw.2	+	6	1845	c.877G>A	c.(877-879)GAG>AAG	p.E293K	HSD17B1_uc002hzx.2_Missense_Mutation_p.E294K|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'Flank|HSD17B1_uc010cyi.2_Missense_Mutation_p.E324K	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	293					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GGCAAAggccgaggctggggc	0.552													A	40706846	G	A	40706846	3	1	236	1	0	0	0	0	1	0	0	0	7378	1059	37	1	899	1	HSD17B1	17	40706846	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	737333	40706846	40488364	895	120072											
NBR1	4077	broad.mit.edu	37	chr17	41341640	41341640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaacgaaacggttgagaaGcttgaacagaaattacatga	10	5	0	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:41341640G>A	uc010czd.2	+	8	656	c.516G>A	c.(514-516)AAG>AAA	p.K172K	NBR1_uc010diz.2_Silent_p.K172K|NBR1_uc010whu.1_Silent_p.K172K|NBR1_uc010whv.1_Silent_p.K172K|NBR1_uc010whw.1_Silent_p.K151K|NBR1_uc010whx.1_5'Flank	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	172					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CGGTTGAGAAGCTTGAACAGA	0.388													A	41341640	G	A	41341640	2	1	236	1	0	0	0	0	0	0	0	1	10200	962	34	2		2	NBR1	17	41341640	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	634794	41341640	39853570	896	120073											
HEXIM2	124790	broad.mit.edu	37	chr17	43246699	43246699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggcctcccgggtccgCgaagagatgttcgccaaagg	15	12	0	2	rs150581722		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:43246699C>T	uc002iih.1	+	4	623	c.384C>T	c.(382-384)CGC>CGT	p.R128R	HEXIM2_uc010daf.1_Silent_p.R150R|HEXIM2_uc002iii.1_Silent_p.R128R|HEXIM2_uc002iij.1_Silent_p.R128R|uc002iik.1_RNA	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	128					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				0						CCCGGGTCCGCGAAGAGATGT	0.627													T	43246699	C	T	43246699	2	4	236	1	0	0	0	0	0	0	0	1	7077	755	27	1		1	HEXIM2	17	43246699	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1905059	43246699	37948511	897	120074											
WNT3	7473	broad.mit.edu	37	chr17	44845923	44845923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagttgggggagttctcGtagtagaccaggtccctctc	12	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:44845923G>A	uc002ikv.2	-	4	950	c.831C>T	c.(829-831)TAC>TAT	p.Y277Y		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	277					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGGAGTTCTCGTAGTAGACCA	0.602													A	44845923	G	A	44845923	2	1	236	1	0	0	0	0	0	0	0	1	17385	1140	40	1		1	WNT3	17	44845923	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1599224	44845923	36349287	898	120075											
ITGB3	3690	broad.mit.edu	37	chr17	45380143	45380143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaggatgactgtgtcGtcagattccagtactatgaa	11	6	1	5			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:45380143G>A	uc002ilj.2	+	13	2091	c.2071G>A	c.(2071-2073)GTC>ATC	p.V691I	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	691	Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	TGACTGTGTCGTCAGATTCCA	0.488													A	45380143	G	A	45380143	3	1	236	1	0	0	0	0	1	0	0	0	7895	1145	40	1	2121	1	ITGB3	17	45380143	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	534220	45380143	35815067	899	120076											
NFE2L1	4779	broad.mit.edu	37	chr17	46128959	46128959	+	Frame_Shift_Del	DEL	C	C	-													ggaggatttgggggctgtagCccccccagtcagtggagact							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:46128958_46128958GC>G	uc002imz.4	+	1	1129	c.478_478GC>G	c.(478-480)gccfs	p.A160fs	NFE2L1_uc002ina.4_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inb.4_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.A160fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	160	Asp/Glu-rich (acidic).				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	p.V163fs*14(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGGCTGTAGCCCCCCCAGT	0.592													-	46128959	C	-	46128959	7	5	236	1	0	1	0	1	0	0	0	0	10367	739	26	0	481	0	NFE2L1	17	46128959	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	748816	46128959	35066251	900	120077											
SGCA	6442	broad.mit.edu	37	chr17	48252649	48252649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaccactgcaccatccacGggaacacagaggagctgcgg	11	15	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:48252649G>T	uc002iqi.2	+	9	1051	c.1015G>T	c.(1015-1017)GGG>TGG	p.G339W	SGCA_uc002iqj.2_Missense_Mutation_p.G215W|SGCA_uc010wmi.1_RNA|HILS1_uc010wmj.1_5'Flank|HILS1_uc002iqk.2_Intron|HILS1_uc002iql.2_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	339	Cytoplasmic (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CACCATCCACGGGAACACAGA	0.647													T	48252649	G	T	48252649	3	4	236	1	0	0	0	0	1	0	0	0	14199	1116	39	5	1049	5	SGCA	17	48252649	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2123690	48252649	32942561	901	120078											
COL1A1	1277	broad.mit.edu	37	chr17	48272956	48272956	+	Frame_Shift_Del	DEL	G	G	-													cagcagcaccagcagggccaGgggggccaggctcaccacgc					rs72645369		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:48272956delG	uc002iqm.2	-	17	1253	c.1127delC	c.(1126-1128)CCTfs	p.P376fs		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	376	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(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	AGCAGGGCCAGGGGGGCCAGG	0.607			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	48272956	G	-	48272956	7	5	236	1	0	1	0	1	0	0	0	0	3677	1000	35	0	3407	0	COL1A1	17	48272956	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	20307	48272956	32922254	902	120079											
TEX14	56155	broad.mit.edu	37	chr17	56700344	56700344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgaaaatgctgctgcaTggacaggggtgctcccatca	12	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:56700344T>C	uc010dcz.1	-	4	399	c.281A>G	c.(280-282)CAT>CGT	p.H94R	TEX14_uc002iwr.1_Missense_Mutation_p.H94R|TEX14_uc002iws.1_Missense_Mutation_p.H94R|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	94	ANK 3.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTGCTGCATGGACAGGGGT	0.562													C	56700344	T	C	56700344	3	2	236	1	0	0	0	0	1	0	0	0	15775	1464	51	3	4314	3	TEX14	17	56700344	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	8427388	56700344	24494866	903	120080											
TBX4	9496	broad.mit.edu	37	chr17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-													ggaggatcactatttccgttCcccccctccctacgaccagc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:59560344_59560344TC>T	uc010ddo.3	+	8	1271	c.1108_1108TC>T	c.(1108-1110)tccfs	p.S370fs	TBX4_uc002izi.3_Frame_Shift_Del_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	369					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						CTATTTCCGTTCCCCCCCTCC	0.572													-	59560345	C	-	59560345	7	5	236	1	0	1	0	1	0	0	0	0	15657	855	30	0	1136	0	TBX4	17	59560345	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	2860001	59560345	21634865	904	120081											
MED13	9969	broad.mit.edu	37	chr17	60033826	60033826	+	Frame_Shift_Del	DEL	T	T	-													accaaattttctagcagaacTttttttccgacgagccctat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60033825_60033825CT>C	uc002izo.3	-	23	5575	c.5498_5498AG>G	c.(5497-5499)agtfs	p.S1833fs		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1833					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor 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						TCTAGCAGAACTTTTTTTCCG	0.358													-	60033826	T	-	60033826	7	5	236	1	0	1	0	1	0	0	0	0	9430	1609	56	0	1055	0	MED13	17	60033826	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	473481	60033826	21161384	905	120082											
MED13	9969	broad.mit.edu	37	chr17	60062071	60062071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctcaattttgaactgcgCtcctatactagaactatttc	4	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60062071C>T	uc002izo.2	-	14	2709	c.2632G>A	c.(2632-2634)GCG>ACG	p.A878T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	878					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			large_intestine(1)|ovary(1)	2						TTGAACTGCGCTCCTATACTA	0.338													T	60062071	C	T	60062071	3	4	236	1	0	0	0	0	1	0	0	0	9430	797	28	2	3960	2	MED13	17	60062071	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	28245	60062071	21133139	906	120083											
MED13	9969	broad.mit.edu	37	chr17	60072555	60072555	+	Frame_Shift_Del	DEL	T	T	-													ctctcactattttgtctatcTtttttatcaggaaaaaggaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60072554_60072554CT>C	uc002izo.3	-	9	2217	c.2140_2140AG>G	c.(2140-2142)gatfs	p.D714fs		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	714					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor 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						TTTTGTCTATCTTTTTTATCA	0.363													-	60072555	T	-	60072555	7	5	236	1	0	1	0	1	0	0	0	0	9430	1606	56	0	4469	0	MED13	17	60072555	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	10484	60072555	21122655	907	120084											
MRC2	9902	broad.mit.edu	37	chr17	60757243	60757243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggggtcagagttggCgctggagcgacggcgtaggg	21	8	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60757243C>T	uc002jad.2	+	14	2680	c.2278C>T	c.(2278-2280)CGC>TGC	p.R760C	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	760	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TCAGAGTTGGCGCTGGAGCGA	0.667													T	60757243	C	T	60757243	3	4	236	1	0	0	0	0	1	0	0	0	9758	768	27	1	2332	1	MRC2	17	60757243	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	684688	60757243	20437967	908	120085											
STRADA	92335	broad.mit.edu	37	chr17	61781857	61781857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagttggccactgagcgcGaagggctcatggtcagctcc	14	12	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:61781857G>A	uc002jbm.2	-	11	1103	c.944C>T	c.(943-945)TCG>TTG	p.S315L	STRADA_uc002jbn.2_Missense_Mutation_p.S257L|STRADA_uc002jbo.2_Missense_Mutation_p.S278L|STRADA_uc002jbp.2_Missense_Mutation_p.S278L|STRADA_uc002jbq.2_Missense_Mutation_p.S257L|STRADA_uc010wpq.1_Missense_Mutation_p.S271L|STRADA_uc010wpr.1_Missense_Mutation_p.S286L|STRADA_uc010ddw.2_Missense_Mutation_p.S286L|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	315	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			ovary(1)	1						CACTGAGCGCGAAGGGCTCAT	0.632													A	61781857	G	A	61781857	3	1	236	1	0	0	0	0	1	0	0	0	15323	1059	37	1	421	1	STRADA	17	61781857	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1024614	61781857	19413353	909	120086											
SMARCD2	6603	broad.mit.edu	37	chr17	61911863	61911863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgagcaggagggtgcActtgacgttgaggtctccag	15	9	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:61911863A>G	uc010deb.1	-	7	1209	c.892T>C	c.(892-894)TGC>CGC	p.C298R	SMARCD2_uc010wpt.1_Missense_Mutation_p.C250R|SMARCD2_uc010dea.1_Missense_Mutation_p.C223R|SMARCD2_uc010dec.1_Missense_Mutation_p.C277R	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	298					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						AGGAGGGTGCACTTGACGTTG	0.592											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	61911863	A	G	61911863	3	3	236	1	0	0	0	0	1	0	0	0	14778	159	6	3	731	3	SMARCD2	17	61911863	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	130006	61911863	19283347	910	120087											
SMARCD2	6603	broad.mit.edu	37	chr17	61912836	61912836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgtcccctgctggggttCccccaggggtccctgcagtt	12	16	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:61912836C>T	uc010deb.1	-	5	976	c.659G>A	c.(658-660)GGA>GAA	p.G220E	SMARCD2_uc010wpt.1_Missense_Mutation_p.G172E|SMARCD2_uc010dea.1_Missense_Mutation_p.G145E|SMARCD2_uc010dec.1_Missense_Mutation_p.G199E	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	220					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						TGCTGGGGTTCCCCCAGGGGT	0.562													T	61912836	C	T	61912836	3	4	236	1	0	0	0	0	1	0	0	0	14778	855	30	4	972	4	SMARCD2	17	61912836	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	973	61912836	19282374	911	120088											
SDK2	54549	broad.mit.edu	37	chr17	71398252	71398252	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cggtcaccatggtaacctccTcttcctgttccggctcccag	8	17	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:71398252T>A	uc010dfm.2	-	19	2513	c.2513A>T	c.(2512-2514)GAG>GTG	p.E838V	SDK2_uc002jjt.3_5'UTR|SDK2_uc010dfn.2_Missense_Mutation_p.E517V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	838	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GGTAACCTCCTCTTCCTGTTC	0.602													A	71398252	T	A	71398252	3	1	236	1	0	0	0	0	1	0	0	0	13969	1551	54	5	4113	5	SDK2	17	71398252	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	9485416	71398252	9796958	912	120089											
KIF19	124602	broad.mit.edu	37	chr17	72345394	72345394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcgctgacctgcggggCgagatccagcgactcaagcg	13	13	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:72345394C>T	uc002jkm.3	+	10	1257	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	KIF19_uc002jkj.2_Silent_p.G373G|KIF19_uc002jkk.2_Silent_p.G331G|KIF19_uc002jkl.2_Silent_p.G331G	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	373	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						ACCTGCGGGGCGAGATCCAGC	0.642													T	72345394	C	T	72345394	2	4	236	1	0	0	0	0	0	0	0	1	8282	755	27	1		1	KIF19	17	72345394	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	947142	72345394	8849816	913	120090											
RECQL5	9400	broad.mit.edu	37	chr17	73658666	73658666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatagaagaggttggcccGgaagcagggagtcttgaaga	15	6	2	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:73658666G>A	uc010dgl.2	-	4	820	c.664C>T	c.(664-666)CGG>TGG	p.R222W	RECQL5_uc010dgk.2_Missense_Mutation_p.R195W|RECQL5_uc002jpb.1_Missense_Mutation_p.R222W|RECQL5_uc002joz.3_Missense_Mutation_p.R222W|RECQL5_uc002jpa.3_Missense_Mutation_p.R222W	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	222					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			AGGTTGGCCCGGAAGCAGGGA	0.537								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	73658666	G	A	73658666	3	1	236	1	0	0	0	0	1	0	0	0	13203	1115	39	1	2466	1	RECQL5	17	73658666	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1313272	73658666	7536544	914	120091											
UNC13D	201294	broad.mit.edu	37	chr17	73832117	73832117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatcttgtcccatgtgCgctggcactggtgcaggtcg	15	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:73832117C>T	uc002jpp.2	-	17	1900	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	UNC13D_uc010wsk.1_Missense_Mutation_p.R507H|UNC13D_uc002jpq.1_Missense_Mutation_p.R157H|UNC13D_uc010dgq.1_Missense_Mutation_p.R303H	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	507	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			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)			GTCCCATGTGCGCTGGCACTG	0.622									Familial_Hemophagocytic_Lymphohistiocytosis				T	73832117	C	T	73832117	3	4	236	1	0	0	0	0	1	0	0	0	16984	768	27	1	1816	1	UNC13D	17	73832117	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	173451	73832117	7363093	915	120092											
EVPL	2125	broad.mit.edu	37	chr17	74003402	74003402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcttcactgatcatccCggagaggagggcctgctgga	13	12	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:74003402C>T	uc002jqi.2	-	22	6112	c.5884G>A	c.(5884-5886)GGG>AGG	p.G1962R	EVPL_uc010wss.1_Missense_Mutation_p.G1984R|EVPL_uc010wst.1_Missense_Mutation_p.G1432R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1962	Plectin 6.|Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTGATCATCCCGGAGAGGAGG	0.627													T	74003402	C	T	74003402	3	4	236	1	0	0	0	0	1	0	0	0	5292	652	23	1	221	1	EVPL	17	74003402	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	171285	74003402	7191808	916	120093											
FOXJ1	2302	broad.mit.edu	37	chr17	74136150	74136150	+	Frame_Shift_Del	DEL	G	G	-													gtggcgtagtccacgtcgtcGgggggtggggcctgcagccc					rs145296122	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:74136150delG	uc002jqw.2	-	1	417	c.327delC	c.(325-327)CCCfs	p.P109fs	FOXJ1_uc002jqx.2_Frame_Shift_Del_p.P109fs|uc002jqy.1_5'Flank	NM_001454	NP_001445	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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			CCACGTCGTCGGGGGGTGGGG	0.706													-	74136150	G	-	74136150	7	5	236	1	0	1	0	1	0	0	0	0	6011	1103	39	0	946	0	FOXJ1	17	74136150	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	132748	74136150	7059060	917	120094											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74623283	74623283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggagcagctgctgctgGggcactggagggaagcgtgt	19	9	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:74623283G>A	uc002jsh.2	-	4	1212	c.1038C>T	c.(1036-1038)CCC>CCT	p.P346P	ST6GALNAC1_uc002jsi.2_Silent_p.P214P|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	346	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						GCTGCTGCTGGGGCACTGGAG	0.647													A	74623283	G	A	74623283	2	1	236	1	0	0	0	0	0	0	0	1	15222	1219	43	4		4	ST6GALNAC1	17	74623283	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	487133	74623283	6571927	918	120095											
ENPP7	339221	broad.mit.edu	37	chr17	77709262	77709262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaccttccgggacatcGagtttgagctcctggactac	9	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:77709262G>A	uc002jxa.2	+	3	840	c.820G>A	c.(820-822)GAG>AAG	p.E274K		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	274					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGGGACATCGAGTTTGAGCT	0.577													A	77709262	G	A	77709262	3	1	236	1	0	0	0	0	1	0	0	0	5135	1059	37	1	830	1	ENPP7	17	77709262	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3085979	77709262	3485948	919	120096											
GPS1	2873	broad.mit.edu	37	chr17	80014355	80014355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttccccaggacaacctgCtcctggacatgtatctggcc	8	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:80014355C>T	uc002kdl.1	+	10	1102	c.1057C>T	c.(1057-1059)CTC>TTC	p.L353F	GPS1_uc002kdk.1_Missense_Mutation_p.L389F|GPS1_uc010dij.1_Missense_Mutation_p.L388F|GPS1_uc002kdm.1_Missense_Mutation_p.L333F|GPS1_uc002kdn.1_Missense_Mutation_p.L349F|GPS1_uc002kdo.1_Missense_Mutation_p.L352F|GPS1_uc010wvh.1_Missense_Mutation_p.L345F	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	353	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	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)			GGACAACCTGCTCCTGGACAT	0.662													T	80014355	C	T	80014355	3	4	236	1	0	0	0	0	1	0	0	0	6732	797	28	2	1252	2	GPS1	17	80014355	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2305093	80014355	1180855	920	120097											
GPS1	2873	broad.mit.edu	37	chr17	80014374	80014375	+	Frame_Shift_Ins	INS	-	-	C													ctcctggacatgtatctggcINScccccatgtcaggaccctgt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:80014373_80014374G>GC	uc002kdk.1	+	9	1603_1604	c.1183_1184G>GC	c.(1183-1185)gccfs	p.A395fs	GPS1_uc002kdl.1_Frame_Shift_Ins_p.A359fs|GPS1_uc010dij.1_Frame_Shift_Ins_p.A394fs|GPS1_uc002kdm.1_Frame_Shift_Ins_p.A339fs|GPS1_uc002kdn.1_Frame_Shift_Ins_p.A355fs|GPS1_uc010wvh.1_Frame_Shift_Ins_p.A351fs	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	359	PCI.				JNK cascade|cell cycle|cullin deneddylation|inactivation of MAPK activity	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)			CATGTATCTGGCCCCCCATGTC	0.678													C	80014375	-	C	80014374	7	5	236	1	0	1	1	0	0	0	0	0	6732	739	26	0	1271	0	GPS1	17	80014374	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	19	80014374	1180836	921	120098											
TEX19	400629	broad.mit.edu	37	chr17	80320038	80320038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggccatgtgccctccGgtcagcatgcggtatgagga	14	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:80320038G>A	uc002keq.2	+	2	321	c.12G>A	c.(10-12)CCG>CCA	p.P4P		NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	testis expressed 19	4						nucleus					0						TGTGCCCTCCGGTCAGCATGC	0.587													A	80320038	G	A	80320038	2	1	236	1	0	0	0	0	0	0	0	1	15777	1103	39	1		1	TEX19	17	80320038	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	305664	80320038	875172	922	120099											
COLEC12	81035	broad.mit.edu	37	chr18	334972	334972	+	Frame_Shift_Del	DEL	G	G	-													cctctttgcctggtgggcccGgggggcctgggtccccactg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:334972delG	uc002kkm.2	-	6	1801	c.1586delC	c.(1585-1587)CCGfs	p.P529fs		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	529	Collagen-like 2.|Extracellular (Potential).				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			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGGTGGGCCCGGGGGGCCTGG	0.716													-	334972	G	-	334972	7	5	236	1	0	1	0	1	0	0	0	0	3712	1116	39	0	662	0	COLEC12	18	334972	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08		334972	77742276	923	120100											
PTPRM	5797	broad.mit.edu	37	chr18	7955139	7955139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacccgttcctattgccCcacctcagctcgcctctgta	5	19	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:7955139C>T	uc002knn.3	+	7	1362	c.859C>T	c.(859-861)CCA>TCA	p.P287S	PTPRM_uc010dkv.2_Missense_Mutation_p.P287S|PTPRM_uc010wzl.1_Missense_Mutation_p.P74S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	287	Fibronectin type-III 1.|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TCCTATTGCCCCACCTCAGCT	0.488													T	7955139	C	T	7955139	3	4	236	1	0	0	0	0	1	0	0	0	12806	623	22	4	885	4	PTPRM	18	7955139	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7620167	7955139	70122109	924	120101											
PPP4R1	9989	broad.mit.edu	37	chr18	9570554	9570554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcacctagaggcttccCggatgcctcagcagcatggt	10	12	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:9570554C>T	uc002koe.1	-	11	1292	c.1174G>A	c.(1174-1176)GGG>AGG	p.G392R	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.G238R|PPP4R1_uc002kod.1_Missense_Mutation_p.G375R|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	392					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						AGAGGCTTCCCGGATGCCTCA	0.448													T	9570554	C	T	9570554	3	4	236	1	0	0	0	0	1	0	0	0	12403	652	23	1	1718	1	PPP4R1	18	9570554	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1615415	9570554	68506694	925	120102											
C18orf1	753	broad.mit.edu	37	chr18	13621130	13621130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcggagctggagttcGcccaaatcatcatcatcgtc	11	12	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:13621130G>A	uc002ksa.2	+	5	864	c.196G>A	c.(196-198)GCC>ACC	p.A66T	C18orf1_uc002ksb.2_Missense_Mutation_p.A66T|C18orf1_uc002kse.2_Missense_Mutation_p.A29T|C18orf1_uc002ksf.2_Missense_Mutation_p.A29T|C18orf1_uc002ksg.1_5'UTR|C18orf1_uc002ksh.1_Missense_Mutation_p.A8T|C18orf1_uc002ksi.1_Missense_Mutation_p.A8T	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	66	Helical; (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		GCTGGAGTTCGCCCAAATCAT	0.592													A	13621130	G	A	13621130	3	1	236	1	0	0	0	0	1	0	0	0	1894	1087	38	1	287	1	C18orf1	18	13621130	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	4050576	13621130	64456118	926	120103											
ROCK1	6093	broad.mit.edu	37	chr18	18629104	18629104	+	Frame_Shift_Del	DEL	G	G	-													atgatgtccctttcttcccaGaaaaaagcagaatcagatct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:18629103_18629103AG>A	uc002kte.3	-	3	1305	c.364_364CT>T	c.(364-366)tggfs	p.W122fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	122	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	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)					CTTTCTTCCCAGAAAAAAGCA	0.368													-	18629104	G	-	18629104	7	5	236	1	0	1	0	1	0	0	0	0	13517	933	33	0	3821	0	ROCK1	18	18629104	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	5007974	18629104	59448144	927	120104											
DSG1	1828	broad.mit.edu	37	chr18	28913557	28913557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatgtatttttagcaataCggccagtatgctcttgctgt	8	7	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:28913557C>T	uc002kwp.2	+	7	902	c.690C>T	c.(688-690)TAC>TAT	p.Y230Y		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	230	Extracellular (Potential).|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			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTAGCAATACGGCCAGTATG	0.428													T	28913557	C	T	28913557	2	4	236	1	0	0	0	0	0	0	0	1	4776	547	19	1		1	DSG1	18	28913557	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	10284453	28913557	49163691	928	120105											
SLC14A2	8170	broad.mit.edu	37	chr18	43216967	43216967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcagcccagttctttcTagtgccttgaattccatctt	5	12	5	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:43216967T>C	uc010dnj.2	+	7	984	c.663T>C	c.(661-663)TCT>TCC	p.S221S	SLC14A2_uc002lbb.2_Silent_p.S221S|SLC14A2_uc002lbe.2_Silent_p.S221S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	221	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CAGTTCTTTCTAGTGCCTTGA	0.512													C	43216967	T	C	43216967	2	2	236	1	0	0	0	0	0	0	0	1	14397	1509	53	3		3	SLC14A2	18	43216967	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	14303410	43216967	34860281	929	120106											
KIAA0427	9811	broad.mit.edu	37	chr18	46284491	46284491	+	Frame_Shift_Del	DEL	G	G	-													aagcacccaccaggcgacaaGggggaggcaggcgcacaccg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:46284491delG	uc002ldc.2	+	8	1071	c.786delG	c.(784-786)AAGfs	p.K262fs	KIAA0427_uc002ldd.2_Frame_Shift_Del_p.K262fs|KIAA0427_uc002lde.3_5'Flank	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	262	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CAGGCGACAAGGGGGAGGCAG	0.642													-	46284491	G	-	46284491	7	5	236	1	0	1	0	1	0	0	0	0	8176	991	35	0	812	0	KIAA0427	18	46284491	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	3067524	46284491	31792757	930	120107											
KIAA0427	9811	broad.mit.edu	37	chr18	46343630	46343630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagctgcagcagcaggaCgtggagcgctggctgggctt	19	9	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:46343630C>T	uc002ldc.2	+	10	1695	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	KIAA0427_uc002ldd.2_Silent_p.D472D|KIAA0427_uc002lde.3_Silent_p.D99D	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	470	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AGCAGCAGGACGTGGAGCGCT	0.677													T	46343630	C	T	46343630	2	4	236	1	0	0	0	0	0	0	0	1	8176	535	19	1		1	KIAA0427	18	46343630	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	59139	46343630	31733618	931	120108											
MBD1	4152	broad.mit.edu	37	chr18	47802019	47802019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcgcctgagaccagggCggggagggcgaaggcagatg	20	9	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:47802019C>T	uc010dow.1	-	8	1180	c.743G>A	c.(742-744)CGC>CAC	p.R248H	MBD1_uc002lef.2_Missense_Mutation_p.R30H|MBD1_uc002leg.2_Missense_Mutation_p.R199H|MBD1_uc010xdi.1_Missense_Mutation_p.R274H|MBD1_uc002leh.3_Missense_Mutation_p.R248H|MBD1_uc002len.2_Missense_Mutation_p.R248H|MBD1_uc002lei.3_Missense_Mutation_p.R248H|MBD1_uc002lej.3_Missense_Mutation_p.R248H|MBD1_uc002lek.3_Missense_Mutation_p.R199H|MBD1_uc002lel.3_Missense_Mutation_p.R248H|MBD1_uc002lem.3_Missense_Mutation_p.R248H|MBD1_uc010xdj.1_Missense_Mutation_p.R248H|MBD1_uc010xdk.1_Missense_Mutation_p.R248H|MBD1_uc010dox.1_Missense_Mutation_p.R248H|MBD1_uc002leo.2_Missense_Mutation_p.R248H	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	248	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGACCAGGGCGGGGAGGGCG	0.627													T	47802019	C	T	47802019	3	4	236	1	0	0	0	0	1	0	0	0	9342	768	27	1	1304	1	MBD1	18	47802019	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1458389	47802019	30275229	932	120109											
MAPK4	5596	broad.mit.edu	37	chr18	48190498	48190498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgccctgagcgatgcccGcagcatgaagcacgcgctcc	12	15	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:48190498G>A	uc002lev.2	+	2	1170	c.170G>A	c.(169-171)CGC>CAC	p.R57H	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.R57H	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	57	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCGATGCCCGCAGCATGAAG	0.612													A	48190498	G	A	48190498	3	1	236	1	0	0	0	0	1	0	0	0	9280	1087	38	1	172	1	MAPK4	18	48190498	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	388479	48190498	29886750	933	120110											
MAPK4	5596	broad.mit.edu	37	chr18	48190669	48190669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggagaccgacctggcacGcctgctggagcagggcacgc	15	14	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:48190669G>A	uc002lev.2	+	2	1341	c.341G>A	c.(340-342)CGC>CAC	p.R114H	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.R114H	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		GACCTGGCACGCCTGCTGGAG	0.612													A	48190669	G	A	48190669	3	1	236	1	0	0	0	0	1	0	0	0	9280	1087	38	1	343	1	MAPK4	18	48190669	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	171	48190669	29886579	934	120111											
ATP8B1	5205	broad.mit.edu	37	chr18	55315824	55315824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaggagatgaggtccgCgtagccccgctggtgcgaga	17	12	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:55315824C>T	uc002lgw.2	-	27	3652	c.3652G>A	c.(3652-3654)GCG>ACG	p.A1218T	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1218	Cytoplasmic (Potential).				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(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				ATGAGGTCCGCGTAGCCCCGC	0.701									Byler_disease				T	55315824	C	T	55315824	3	4	236	1	0	0	0	0	1	0	0	0	1194	768	27	1	107	1	ATP8B1	18	55315824	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7125155	55315824	22761424	935	120112											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	236	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-F1-6874-01A-11D-1882-08	1697461	57013285	21063963	936	120113											
VPS4B	9525	broad.mit.edu	37	chr18	61058235	61058235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaccaaaatcttctgtAaacttctttaatttcaacaa	2	9	5	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:61058235A>G	uc002lix.2	-	11	1568	c.1308T>C	c.(1306-1308)TTT>TTC	p.F436F		NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	436					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						AATCTTCTGTAAACTTCTTTA	0.363													G	61058235	A	G	61058235	2	3	236	1	0	0	0	0	0	0	0	1	17210	359	13	3		3	VPS4B	18	61058235	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	4044950	61058235	17019013	937	120114											
CD226	10666	broad.mit.edu	37	chr18	67563197	67563197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcacaggccacgtcAtctgaggctgacaagtgagt	12	12	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:67563197A>G	uc010dqo.2	-	3	914	c.467T>C	c.(466-468)ATG>ACG	p.M156T	CD226_uc002lkm.3_Missense_Mutation_p.M156T	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	156	Ig-like C2-type 2.|Extracellular (Potential).				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				0		Esophageal squamous(42;0.129)				AGGCCACGTCATCTGAGGCTG	0.488													G	67563197	A	G	67563197	3	3	236	1	0	0	0	0	1	0	0	0	2986	217	8	3	559	3	CD226	18	67563197	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	6504962	67563197	10514051	938	120115											
CDC34	997	broad.mit.edu	37	chr19	535840	535840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttctgcccctgcaggcgCgcctcaagttccccatcgac	9	19	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:535840C>T	uc002lov.2	+	2	380	c.181C>T	c.(181-183)CGC>TGC	p.R61C		NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	61					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		CCTGCAGGCGCGCCTCAAGTT	0.637													T	535840	C	T	535840	3	4	236	1	0	0	0	0	1	0	0	0	3067	768	27	1	187	1	CDC34	19	535840	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08		535840	58593143	939	120116											
ABCA7	10347	broad.mit.edu	37	chr19	1055119	1055119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcaccagaagttcctgCtgaagtggccaaggtcttgg	13	11	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:1055119C>T	uc002lqw.3	+	30	4205	c.3974C>T	c.(3973-3975)GCT>GTT	p.A1325V	ABCA7_uc010dsb.1_Missense_Mutation_p.A1187V|ABCA7_uc002lqy.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1325	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		GAAGTTCCTGCTGAAGTGGCC	0.652													T	1055119	C	T	1055119	3	4	236	1	0	0	0	0	1	0	0	0	37	797	28	2	4088	2	ABCA7	19	1055119	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	519279	1055119	58073864	940	120117											
PCSK4	54760	broad.mit.edu	37	chr19	1487263	1487263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcggctgcaggctcagCgactgggcctcgatgacatc	14	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:1487263C>T	uc002ltb.1	-	7	794	c.732G>A	c.(730-732)TCG>TCA	p.S244S	PCSK4_uc002lta.2_Silent_p.S56S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	244	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		GCAGGCTCAGCGACTGGGCCT	0.647													T	1487263	C	T	1487263	2	4	236	1	0	0	0	0	0	0	0	1	11602	755	27	1		1	PCSK4	19	1487263	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	432144	1487263	57641720	941	120118											
JSRP1	126306	broad.mit.edu	37	chr19	2252750	2252751	+	Frame_Shift_Ins	INS	-	-	G													ctgacctctgcctcggcccgINSgggcgcaggcggcgctgatg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:2252749_2252750C>CG	uc002lvj.2	-	6	645_646	c.574_575G>CG	c.(574-576)cggfs	p.R192fs		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	192	Pro-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTCGGCCCGGGGCGCAGGC	0.718													G	2252751	-	G	2252750	7	5	236	1	0	1	1	0	0	0	0	0	7966	1115	39	0	425	0	JSRP1	19	2252750	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	765487	2252750	56876233	942	120119											
SPPL2B	56928	broad.mit.edu	37	chr19	2340969	2340969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctggcgctcttctgcGtggccgtcagcgtggtgtgg	16	12	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:2340969G>A	uc002lvs.2	+	9	993	c.913G>A	c.(913-915)GTG>ATG	p.V305M	SPPL2B_uc010dsw.1_Silent_p.A276A|SPPL2B_uc010dsy.1_Silent_p.A276A|SPPL2B_uc010dsz.1_Silent_p.A304A|SPPL2B_uc002lvr.2_Missense_Mutation_p.V305M|SPPL2B_uc010dta.1_Silent_p.A156A|SPPL2B_uc002lvu.2_Silent_p.A98A	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	305	Helical; (Potential).					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		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)		GCTCTTCTGCGTGGCCGTCAG	0.697													A	2340969	G	A	2340969	3	1	236	1	0	0	0	0	1	0	0	0	15088	1145	40	1	942	1	SPPL2B	19	2340969	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	88219	2340969	56788014	943	120120											
ZNF556	80032	broad.mit.edu	37	chr19	2878023	2878023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcttccgcgaggcctcGcccctccacagatgtcaaat	8	15	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:2878023G>A	uc002lwp.1	+	4	1154	c.1067G>A	c.(1066-1068)CGC>CAC	p.R356H	ZNF556_uc002lwq.2_Missense_Mutation_p.R355H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		GCGAGGCCTCGCCCCTCCACA	0.488													A	2878023	G	A	2878023	3	1	236	1	0	0	0	0	1	0	0	0	17984	1087	38	1	1081	1	ZNF556	19	2878023	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	537054	2878023	56250960	944	120121											
TBXA2R	6915	broad.mit.edu	37	chr19	3600462	3600462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggaggagcgcgtgtgCgaacccccctgccgcgcgcc	16	15	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:3600462C>T	uc002lyg.1	-	2	385	c.171G>A	c.(169-171)TCG>TCA	p.S57S	TBXA2R_uc002lye.1_Silent_p.S57S	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	57	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	AGCGCGTGTGCGAACCCCCCT	0.706													T	3600462	C	T	3600462	2	4	236	1	0	0	0	0	0	0	0	1	15660	755	27	1		1	TBXA2R	19	3600462	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	722439	3600462	55528521	945	120122											
TJP3	27134	broad.mit.edu	37	chr19	3738930	3738933	+	Frame_Shift_Del	DEL	TCCT	TCCT	-													tgcagtcccgcgtgggtgacTccttctacatccgcactcac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:3738929_3738932CTCCT>C	uc010xhv.2	+	11	1527_1530	c.1527_1530CTCCT>C	c.(1525-1530)gactccfs	p.D509fs	TJP3_uc010xhs.2_Frame_Shift_Del_p.D476fs|TJP3_uc010xht.2_Frame_Shift_Del_p.D440fs|TJP3_uc010xhu.2_Frame_Shift_Del_p.D485fs|TJP3_uc010xhw.2_Frame_Shift_Del_p.D495fs	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	490	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGGTGACTCCTTCTACATCC	0.642													-	3738933	TCCT	-	3738930	7	5	236	1	0	1	0	1	0	0	0	0	15928	1551	54	0	1574	0	TJP3	19	3738930	Frame_Shift_Del	DEL	TCCT	TCGA-F1-6874-01A-11D-1882-08	138468	3738930	55390053	946	120123											
TMIGD2	126259	broad.mit.edu	37	chr19	4294602	4294602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgctggcagctgcggCggccccagaaccaggcaccc	12	18	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:4294602C>T	uc002lzx.1	-	4	570	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TMIGD2_uc010dtv.1_Missense_Mutation_p.R175H	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	175	Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGCGGCGGCCCCAGAA	0.627													T	4294602	C	T	4294602	3	4	236	1	0	0	0	0	1	0	0	0	16228	768	27	1	332	1	TMIGD2	19	4294602	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	555672	4294602	54834381	947	120124											
PTPRS	5802	broad.mit.edu	37	chr19	5231455	5231455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtggtggtcggggggAtgccgttcacctccttgggt	17	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:5231455A>G	uc002mbv.2	-	14	2255	c.2021T>C	c.(2020-2022)ATC>ACC	p.I674T	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.I661T|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	674	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGTCGGGGGGATGCCGTTCAC	0.677													G	5231455	A	G	5231455	3	3	236	1	0	0	0	0	1	0	0	0	12811	333	12	3	3925	3	PTPRS	19	5231455	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	936853	5231455	53897528	948	120125											
PTPRS	5802	broad.mit.edu	37	chr19	5239009	5239009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccgccaggcggaaggcGtactccgtgttgggcttcag	17	12	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:5239009G>A	uc002mbv.2	-	13	2004	c.1770C>T	c.(1768-1770)TAC>TAT	p.Y590Y	PTPRS_uc002mbu.1_Silent_p.Y577Y|PTPRS_uc010xin.1_Silent_p.Y577Y|PTPRS_uc002mbw.2_Silent_p.Y577Y|PTPRS_uc002mbx.2_Silent_p.Y581Y|PTPRS_uc002mby.2_Silent_p.Y577Y	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	590	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGGAAGGCGTACTCCGTGT	0.701													A	5239009	G	A	5239009	2	1	236	1	0	0	0	0	0	0	0	1	12811	1140	40	1		1	PTPRS	19	5239009	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	7554	5239009	53889974	949	120126											
C3	718	broad.mit.edu	37	chr19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-													ggaacggacaacgaggacttGggggggatggttacggtctg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:6697480_6697480TG>T	uc002mfm.3	-	20	2733	c.2671_2671CA>A	c.(2671-2673)aagfs	p.K891fs		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	891					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical 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)		AACGAGGACTTGGGGGGGATG	0.577													-	6697481	G	-	6697481	7	5	236	1	0	1	0	1	0	0	0	0	2204	1335	47	0	2405	0	C3	19	6697481	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1458472	6697481	52431502	950	120127											
TIMM44	10469	broad.mit.edu	37	chr19	8002975	8002975	+	Frame_Shift_Del	DEL	T	T	-													cttctggcctcgtcacggaaTttttttatactttctttcat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:8002974_8002974AT>A	uc002miz.3	-	2	422	c.250_250AT>T	c.(250-252)ttcfs	p.F84fs	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	84					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGTCACGGAATTTTTTTATA	0.413													-	8002975	T	-	8002975	7	5	236	1	0	1	0	1	0	0	0	0	15909	1490	52	0	1153	0	TIMM44	19	8002975	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	1305494	8002975	51126008	951	120128											
SMARCA4	6597	broad.mit.edu	37	chr19	11152043	11152043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcagaagaaatcatcaCggaagcgcaagcgagacagc	12	11	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:11152043C>T	uc002mqf.3	+	30	4515	c.4231C>T	c.(4231-4233)CGG>TGG	p.R1411W	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1411W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1443W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1378W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1378W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1381W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1381W|SMARCA4_uc002mqh.3_Missense_Mutation_p.R501W	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1411					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			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAATCATCACGGAAGCGCAA	0.612			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11152043	C	T	11152043	3	4	236	1	0	0	0	0	1	0	0	0	14770	527	19	1	4454	1	SMARCA4	19	11152043	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3149068	11152043	47976940	952	120129											
MAN2B1	4125	broad.mit.edu	37	chr19	12760206	12760206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtttcctgccacgggctcCgtctggttcagtttccaggt	11	12	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:12760206C>T	uc002mub.2	-	19	2380	c.2304G>A	c.(2302-2304)ACG>ACA	p.T768T	MAN2B1_uc010dyv.1_Silent_p.T767T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	768					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CCACGGGCTCCGTCTGGTTCA	0.527													T	12760206	C	T	12760206	2	4	236	1	0	0	0	0	0	0	0	1	9216	639	23	1		1	MAN2B1	19	12760206	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1608163	12760206	46368777	953	120130											
TNPO2	30000	broad.mit.edu	37	chr19	12814278	12814278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccaatggcccaggtggCgttgttgcagacggagatga	14	9	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:12814278C>T	uc002muo.2	-	19	2358	c.2173G>A	c.(2173-2175)GCC>ACC	p.A725T	TNPO2_uc002mup.2_Missense_Mutation_p.A817T|TNPO2_uc002muq.2_Missense_Mutation_p.A725T|TNPO2_uc002mur.2_Missense_Mutation_p.A725T	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	725	HEAT 12.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GCCCAGGTGGCGTTGTTGCAG	0.602													T	12814278	C	T	12814278	3	4	236	1	0	0	0	0	1	0	0	0	16333	768	27	1	544	1	TNPO2	19	12814278	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	54072	12814278	46314705	954	120131											
MAST1	22983	broad.mit.edu	37	chr19	12979633	12979633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcatcaaatcagcctcaGccactgccttatctgtcatg	6	13	6	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:12979633G>A	uc002mvm.2	+	21	2871	c.2743G>A	c.(2743-2745)GCC>ACC	p.A915T		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	915					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						ATCAGCCTCAGCCACTGCCTT	0.587													A	12979633	G	A	12979633	3	1	236	1	0	0	0	0	1	0	0	0	9324	971	34	2	2825	2	MAST1	19	12979633	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	165355	12979633	46149350	955	120132											
FARSA	2193	broad.mit.edu	37	chr19	13041545	13041545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcccagtgcttggtggaccGaagttcagcctcgatgacct	11	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:13041545G>A	uc002mvs.2	-	2	214	c.166C>T	c.(166-168)CGG>TGG	p.R56W	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.R56W|FARSA_uc010dyy.1_Intron	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	56					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)	TTGGTGGACCGAAGTTCAGCC	0.642													A	13041545	G	A	13041545	3	1	236	1	0	0	0	0	1	0	0	0	5679	1057	37	1	1408	1	FARSA	19	13041545	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	61912	13041545	46087438	956	120133											
NFIX	4784	broad.mit.edu	37	chr19	13201132	13201132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcgcaacgacaggcgcCtcctctgccaaccggtttgt	10	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:13201132C>T	uc010xmx.1	+	10	1499	c.1446C>T	c.(1444-1446)GCC>GCT	p.A482A	NFIX_uc002mwd.2_Missense_Mutation_p.P425L|NFIX_uc002mwe.2_Missense_Mutation_p.P417L|NFIX_uc002mwf.2_Missense_Mutation_p.P387L|NFIX_uc002mwg.1_Missense_Mutation_p.P424L			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	474					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			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CGACAGGCGCCTCCTCTGCCA	0.647													T	13201132	C	T	13201132	2	4	236	1	0	0	0	0	0	0	0	1	10374	681	24	4		4	NFIX	19	13201132	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	159587	13201132	45927851	957	120134											
PODNL1	79883	broad.mit.edu	37	chr19	14045127	14045127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtagctgagctggttGttggagaggctgagggtggc	21	5	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:14045127G>A	uc002mxr.2	-	6	886	c.612C>T	c.(610-612)AAC>AAT	p.N204N	PODNL1_uc010xni.1_Silent_p.N122N|PODNL1_uc010xnj.1_Silent_p.N202N|PODNL1_uc002mxs.2_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	204	Leu-rich.|LRR 6.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TGAGCTGGTTGTTGGAGAGGC	0.677													A	14045127	G	A	14045127	2	1	236	1	0	0	0	0	0	0	0	1	12179	1368	48	4		4	PODNL1	19	14045127	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	843995	14045127	45083856	958	120135											
RFX1	5989	broad.mit.edu	37	chr19	14080843	14080843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcgcaggcccatgaagaCggagcggatgagcttgccga	16	10	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:14080843C>T	uc002mxv.2	-	10	1731	c.1459G>A	c.(1459-1461)GTC>ATC	p.V487I	RFX1_uc010dzi.2_Missense_Mutation_p.V487I	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	487	RFX-type winged-helix.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCCATGAAGACGGAGCGGATG	0.647													T	14080843	C	T	14080843	3	4	236	1	0	0	0	0	1	0	0	0	13262	536	19	1	1528	1	RFX1	19	14080843	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	35716	14080843	45048140	959	120136											
ZNF333	84449	broad.mit.edu	37	chr19	14815865	14815865	+	Splice_Site	DEL	G	G	-													caccctcttgtcttttgccaGgggccggggctgttcctgag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:14815864_14815864AG>A	uc002mzn.3	+	6	441	c.307_splice	c.e6-2	p.G103_splice	ZNF333_uc010dzq.2_Splice_Site_p.G103_splice|ZNF333_uc002mzk.4_Splice_Site|ZNF333_uc002mzl.3_Splice_Site_p.G103_splice|ZNF333_uc010dzr.1_Splice_Site	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	103					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						GTCTTTTGCCAGGGGCCGGGG	0.602													-	14815865	G	-	14815865	8	5	236	1	0	1	0	1	0	0	1	0	17847	1014	35	0	324	0	ZNF333	19	14815865	Splice_Site	DEL	G	TCGA-F1-6874-01A-11D-1882-08	735022	14815865	44313118	960	120137											
CYP4F22	126410	broad.mit.edu	37	chr19	15648801	15648801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctacaacagcaactgccAagagtgagtgtgacccttct	9	12	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15648801A>G	uc002nbh.3	+	7	835	c.668A>G	c.(667-669)CAA>CGA	p.Q223R		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	223						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						AGCAACTGCCAAGAGTGAGTG	0.373													G	15648801	A	G	15648801	3	3	236	1	0	0	0	0	1	0	0	0	4189	130	5	3	686	3	CYP4F22	19	15648801	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	832936	15648801	43480182	961	120138											
OR10H5	284433	broad.mit.edu	37	chr19	15905282	15905282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagcctgcggggctgcAcctgccgggtgggctgctcc	16	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15905282A>G	uc010xos.1	+	1	424	c.424A>G	c.(424-426)ACC>GCC	p.T142A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GCGGGGCTGCACCTGCCGGGT	0.627													G	15905282	A	G	15905282	3	3	236	1	0	0	0	0	1	0	0	0	10909	159	6	3	426	3	OR10H5	19	15905282	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	256481	15905282	43223701	962	120139											
OR10H1	26539	broad.mit.edu	37	chr19	15918308	15918308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttcaacagaggtggcacAtggcaagcaaaatggtggat	12	7	1	1	rs143264407		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15918308A>G	uc002nbq.2	-	1	629	c.540T>C	c.(538-540)CAT>CAC	p.H180H		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGGTGGCACATGGCAAGCAA	0.587													G	15918308	A	G	15918308	2	3	236	1	0	0	0	0	0	0	0	1	10905	214	8	3		3	OR10H1	19	15918308	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	13026	15918308	43210675	963	120140											
OR10H1	26539	broad.mit.edu	37	chr19	15918435	15918435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcaggcgcagccccgcGggctcatgagcacgttgtag	15	14	1	1	rs143282709		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15918435G>A	uc002nbq.2	-	1	502	c.413C>T	c.(412-414)CCG>CTG	p.P138L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCAGCCCCGCGGGCTCATGAG	0.647													A	15918435	G	A	15918435	3	1	236	1	0	0	0	0	1	0	0	0	10905	1116	39	1	547	1	OR10H1	19	15918435	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	127	15918435	43210548	964	120141											
CHERP	10523	broad.mit.edu	37	chr19	16652696	16652696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgctgctgctgctccaGcgccagcttgcacttgtagt	10	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:16652696G>T	uc002nei.1	-	2	258	c.184C>A	c.(184-186)CTG>ATG	p.L62M	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Missense_Mutation_p.L30M	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	62					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						TGCTGCTCCAGCGCCAGCTTG	0.542													T	16652696	G	T	16652696	3	4	236	1	0	0	0	0	1	0	0	0	3336	962	34	5	2630	5	CHERP	19	16652696	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	734261	16652696	42476287	965	120142											
F2RL3	9002	broad.mit.edu	37	chr19	17001150	17001150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggtgctggcctccgcCgtggccttcttcgtgcccag	14	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:17001150C>T	uc002nfa.2	+	2	1051	c.876C>T	c.(874-876)GCC>GCT	p.A292A		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	292	Helical; Name=6; (Potential).				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				0						TGGCCTCCGCCGTGGCCTTCT	0.706													T	17001150	C	T	17001150	2	4	236	1	0	0	0	0	0	0	0	1	5346	639	23	1		1	F2RL3	19	17001150	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	348454	17001150	42127833	966	120143											
PLVAP	83483	broad.mit.edu	37	chr19	17487777	17487777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgatgcggtccaggtcGcggcgagcattcagccacat	13	12	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:17487777G>A	uc002ngk.1	-	1	371	c.321C>T	c.(319-321)CGC>CGT	p.R107R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	107	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GGTCCAGGTCGCGGCGAGCAT	0.522													A	17487777	G	A	17487777	2	1	236	1	0	0	0	0	0	0	0	1	12116	1074	38	1		1	PLVAP	19	17487777	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	486627	17487777	41641206	967	120144											
FKBP8	23770	broad.mit.edu	37	chr19	18650477	18650477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctggcccttgaccgggcGgctcgaacctggcggccctg	14	17	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:18650477G>A	uc002njk.1	-	3	459	c.346C>T	c.(346-348)CGC>TGC	p.R116C	FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Missense_Mutation_p.R145C|FKBP8_uc002njj.1_Missense_Mutation_p.R116C|FKBP8_uc002njl.1_Missense_Mutation_p.R116C|FKBP8_uc002njm.1_Missense_Mutation_p.R116C|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	116					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			ovary(1)	1						TTGACCGGGCGGCTCGAACCT	0.642													A	18650477	G	A	18650477	3	1	236	1	0	0	0	0	1	0	0	0	5914	1116	39	1	923	1	FKBP8	19	18650477	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1162700	18650477	40478506	968	120145											
UPF1	5976	broad.mit.edu	37	chr19	18964115	18964115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtacaaaggggaccttgCgcccctgtggaaagggatcg	16	10	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:18964115C>T	uc002nkg.2	+	8	1420	c.1145C>T	c.(1144-1146)GCG>GTG	p.A382V	UPF1_uc002nkf.2_Missense_Mutation_p.A371V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	382	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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGGGACCTTGCGCCCCTGTGG	0.562													T	18964115	C	T	18964115	3	4	236	1	0	0	0	0	1	0	0	0	17000	768	27	1	1142	1	UPF1	19	18964115	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	313638	18964115	40164868	969	120146											
ARMC6	93436	broad.mit.edu	37	chr19	19162542	19162542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggcctgccgcttcctcGcggcccagaagggggcctac	13	16	0	1	rs145390530	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:19162542G>A	uc002nld.2	+	5	739	c.391G>A	c.(391-393)GCG>ACG	p.A131T	ARMC6_uc002nlc.2_Missense_Mutation_p.A106T|ARMC6_uc010xql.1_Missense_Mutation_p.A38T|ARMC6_uc002nle.2_Missense_Mutation_p.A106T|ARMC6_uc010xqm.1_Missense_Mutation_p.A131T	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	131							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCGCTTCCTCGCGGCCCAGAA	0.642													A	19162542	G	A	19162542	3	1	236	1	0	0	0	0	1	0	0	0	955	1087	38	1	326	1	ARMC6	19	19162542	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	198427	19162542	39966441	970	120147											
GATAD2A	54815	broad.mit.edu	37	chr19	19613277	19613277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagacattctgagagaacCgtgagcgccggcaagggcag	16	10	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:19613277C>T	uc010xqt.1	+	11	2025	c.1713C>T	c.(1711-1713)ACC>ACT	p.T571T	GATAD2A_uc010xqu.1_Silent_p.T200T|GATAD2A_uc010xqv.1_Silent_p.T591T|GATAD2A_uc010xqw.1_Silent_p.T374T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	571					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGAGAGAACCGTGAGCGCCG	0.647													T	19613277	C	T	19613277	2	4	236	1	0	0	0	0	0	0	0	1	6260	639	23	1		1	GATAD2A	19	19613277	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	450735	19613277	39515706	971	120148											
ZNF708	7562	broad.mit.edu	37	chr19	21476609	21476609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagggtttctctccagTatgaattaccttatgattag	8	6	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:21476609T>C	uc002npq.1	-	4	1357	c.1159A>G	c.(1159-1161)ACT>GCT	p.T387A	ZNF708_uc002npr.1_Missense_Mutation_p.T323A|ZNF708_uc010ecs.1_Missense_Mutation_p.T323A	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						TTCTCTCCAGTATGAATTACC	0.363													C	21476609	T	C	21476609	3	2	236	1	0	0	0	0	1	0	0	0	18109	1638	57	3	536	3	ZNF708	19	21476609	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1863332	21476609	37652374	972	120149											
ZNF208	7757	broad.mit.edu	37	chr19	22155740	22155740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccagttgaaagctttgCcacattcttcacatttgtag	8	9	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:22155740C>T	uc002nqp.2	-	5	1945	c.1796G>A	c.(1795-1797)GGC>GAC	p.G599D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAAGCTTTGCCACATTCTTC	0.363													T	22155740	C	T	22155740	3	4	236	1	0	0	0	0	1	0	0	0	17763	739	26	2	1750	2	ZNF208	19	22155740	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	679131	22155740	36973243	973	120150											
ZNF91	7644	broad.mit.edu	37	chr19	23544326	23544326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagggcttctctccAgtgtgtatcctcttatgtct	8	10	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:23544326A>G	uc002nre.2	-	4	1568	c.1455T>C	c.(1453-1455)ACT>ACC	p.T485T	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.T453T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	485						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCTTCTCTCCAGTGTGTATCC	0.368													G	23544326	A	G	23544326	2	3	236	1	0	0	0	0	0	0	0	1	18197	175	7	3		3	ZNF91	19	23544326	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1388586	23544326	35584657	974	120151											
ZNF536	9745	broad.mit.edu	37	chr19	31039848	31039848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctgcattttgtaacttcCcatcagacttctacaagcag	5	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:31039848C>A	uc002nsu.1	+	4	3460	c.3322C>A	c.(3322-3324)CCA>ACA	p.P1108T	ZNF536_uc010edd.1_Missense_Mutation_p.P1108T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TTGTAACTTCCCATCAGACTT	0.562													A	31039848	C	A	31039848	3	1	236	1	0	0	0	0	1	0	0	0	17971	623	22	5	3332	5	ZNF536	19	31039848	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7495522	31039848	28089135	975	120152											
GAPDHS	26330	broad.mit.edu	37	chr19	36034314	36034314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggcctggcgagatgggCggggtgcccaccagaacatc	17	11	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36034314C>T	uc002oaf.1	+	8	930	c.814C>T	c.(814-816)CGG>TGG	p.R272W	uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	272					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	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)	GCGAGATGGGCGGGGTGCCCA	0.582													T	36034314	C	T	36034314	3	4	236	1	0	0	0	0	1	0	0	0	6237	759	27	1	844	1	GAPDHS	19	36034314	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4994466	36034314	23094669	976	120153											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-													cctagcagatgtggctcctaCccccccaaagacccctgccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36210764	C	-	36210764	7	5	236	1	0	1	0	1	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	176450	36210764	22918219	977	120154											
MLL4	9757	broad.mit.edu	37	chr19	36214078	36214078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatggctcgatgtggacaCtgtcggggctgcctacgtgt	15	11	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36214078C>T	uc010eei.2	+	6	2904	c.2904C>T	c.(2902-2904)CAC>CAT	p.H968H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	968	CXXC-type.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATGTGGACACTGTCGGGGCT	0.607													T	36214078	C	T	36214078	2	4	236	1	0	0	0	0	0	0	0	1	9623	564	20	4		4	MLL4	19	36214078	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3314	36214078	22914905	978	120155											
KIRREL2	84063	broad.mit.edu	37	chr19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-													aacccacacctgggcatggtCcccccctgcagactttacag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627													-	36357214	C	-	36357214	7	5	236	1	0	1	0	1	0	0	0	0	8325	842	30	0	2005	0	KIRREL2	19	36357214	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	143136	36357214	22771769	979	120156											
ZNF420	147923	broad.mit.edu	37	chr19	37619350	37619350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaatcttttattcGtggttcccagcttactcaac	8	9	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:37619350G>A	uc002ofl.2	+	5	1672	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	486	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTTTATTCGTGGTTCCCAG	0.403													A	37619350	G	A	37619350	3	1	236	1	0	0	0	0	1	0	0	0	17894	1145	40	1	1467	1	ZNF420	19	37619350	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1262136	37619350	21509633	980	120157											
HKR1	284459	broad.mit.edu	37	chr19	37854504	37854504	+	Frame_Shift_Del	DEL	G	G	-													aacaccagagagcacacgcaGgggggaagcctcatgtgtgc					rs143082320		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:37854503_37854503AG>A	uc002ogb.3	+	5	2075	c.1806_1806AG>A	c.(1804-1806)gcafs	p.A602fs	HKR1_uc002ofx.3_Frame_Shift_Del_p.A318fs|HKR1_uc002ofy.3_Frame_Shift_Del_p.A318fs|HKR1_uc002oga.3_Frame_Shift_Del_p.A584fs|HKR1_uc010xto.2_Frame_Shift_Del_p.A584fs|HKR1_uc002ogc.3_Frame_Shift_Del_p.A583fs|HKR1_uc010xtp.2_Frame_Shift_Del_p.A541fs|HKR1_uc002ogd.3_Frame_Shift_Del_p.A541fs	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	602					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)			GAGCACACGCAGGGGGGAAGC	0.527													-	37854504	G	-	37854504	7	5	236	1	0	1	0	1	0	0	0	0	7194	1000	35	0	1821	0	HKR1	19	37854504	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	235154	37854504	21274479	981	120158											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590669	38590669	+	Frame_Shift_Del	DEL	G	G	-													caccaagcatgggaccgggcGgggcctgcccttgaaggatg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:38590668_38590668CG>C	uc002ohk.3	+	4	2241	c.1732_1732CG>C	c.(1732-1734)cggfs	p.R578fs		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	578					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)			TGGGACCGGGCGGGGCCTGCC	0.627													-	38590669	G	-	38590669	7	5	236	1	0	1	0	1	0	0	0	0	14331	1116	39	0	1743	0	SIPA1L3	19	38590669	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	736165	38590669	20538314	982	120159											
FAM98C	147965	broad.mit.edu	37	chr19	38899502	38899503	+	In_Frame_Ins	INS	-	-	AAG													cccccagtgttggggtcgcaINSagaagaagaagaagaagtaa					rs59917662	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:38899501_38899502C>CAAG	uc002oin.1	+	7	1048_1049	c.1029_1030C>CAAG	c.(1027-1032)cgcaag>cgCAAGag	p.343_344RK>RK	FAM98C_uc002oio.1_In_Frame_Ins_p.261_262RK>RK|FAM98C_uc010xtz.1_3'UTR	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	343										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)			GTTGGGGTCGCAAGAAGAAGAA	0.609													AAG	38899503	-	AAG	38899502	7	5	236	1	0	1	1	0	0	0	0	0	5658	131	5	0	1060	0	FAM98C	19	38899502	In_Frame_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	308833	38899502	20229481	983	120160											
RYR1	6261	broad.mit.edu	37	chr19	38939141	38939141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacctccttctgcttccGcatctccaaggtcagtgggg	11	14	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:38939141G>A	uc002oit.2	+	10	1077	c.947G>A	c.(946-948)CGC>CAC	p.R316H	RYR1_uc002oiu.2_Missense_Mutation_p.R316H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	316	MIR 4.|Cytoplasmic.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCTGCTTCCGCATCTCCAAG	0.652													A	38939141	G	A	38939141	3	1	236	1	0	0	0	0	1	0	0	0	13768	1087	38	1	985	1	RYR1	19	38939141	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	39639	38939141	20189842	984	120161											
ZNF546	339327	broad.mit.edu	37	chr19	40520059	40520059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactgaacatcagagaatAcattctggtgtgaaacccta	7	9	2	3	rs17653956		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:40520059A>G	uc002oms.2	+	7	1138	c.882A>G	c.(880-882)ATA>ATG	p.I294M	ZNF546_uc002omt.2_Missense_Mutation_p.I268M	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	294	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATCAGAGAATACATTCTGGTG	0.433													G	40520059	A	G	40520059	3	3	236	1	0	0	0	0	1	0	0	0	17975	381	14	3	900	3	ZNF546	19	40520059	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	1580918	40520059	18608924	985	120162											
ZNF780A	284323	broad.mit.edu	37	chr19	40581329	40581329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcagaagagtaaacgcCtttccacattctttacattc	5	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:40581329C>A	uc002omy.2	-	6	1245	c.1020G>T	c.(1018-1020)AAG>AAT	p.K340N	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.K340N|ZNF780A_uc010xvh.1_Missense_Mutation_p.K341N	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	340	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGTAAACGCCTTTCCACATT	0.408													A	40581329	C	A	40581329	3	1	236	1	0	0	0	0	1	0	0	0	18149	680	24	5	1036	5	ZNF780A	19	40581329	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	61270	40581329	18547654	986	120163											
CYP2B6	1555	broad.mit.edu	37	chr19	41515233	41515233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccacagtgtggagaagcAccgtgaaaccctggacccca	12	13	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41515233A>G	uc002opr.1	+	5	762	c.755A>G	c.(754-756)CAC>CGC	p.H252R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	252					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			ovary(1)|skin(1)	2			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)	GTGGAGAAGCACCGTGAAACC	0.493													G	41515233	A	G	41515233	3	3	236	1	0	0	0	0	1	0	0	0	4164	159	6	3	773	3	CYP2B6	19	41515233	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	933904	41515233	17613750	987	120164											
CYP2B6	1555	broad.mit.edu	37	chr19	41515274	41515274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcccccaaggacctcatcGacacctacctgctccacatg	7	19	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41515274G>A	uc002opr.1	+	5	803	c.796G>A	c.(796-798)GAC>AAC	p.D266N	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	266					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			ovary(1)|skin(1)	2			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)	GGACCTCATCGACACCTACCT	0.393													A	41515274	G	A	41515274	3	1	236	1	0	0	0	0	1	0	0	0	4164	1058	37	1	814	1	CYP2B6	19	41515274	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	41	41515274	17613709	988	120165											
BCKDHA	593	broad.mit.edu	37	chr19	41916544	41916544	+	Splice_Site	DEL	C	C	-													ctctgctctcttccccagcaCccccccaggcagcagcagca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					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						CTTCCCCAGCACCCCCCCAGG	0.612													-	41916544	C	-	41916544	8	5	236	1	0	1	0	1	0	0	1	0	1359	506	18	0	117	0	BCKDHA	19	41916544	Splice_Site	DEL	C	TCGA-F1-6874-01A-11D-1882-08	401270	41916544	17212439	989	120166											
BCKDHA	593	broad.mit.edu	37	chr19	41928571	41928571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcatcatgtcaatccgCgtggatggtaatgatgtgtt	12	6	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41928571C>T	uc002oqq.2	+	7	920	c.891C>T	c.(889-891)CGC>CGT	p.R297R	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.R331R|BCKDHA_uc002oqp.1_Silent_p.R189R|BCKDHA_uc002oqr.2_Silent_p.R296R|BCKDHA_uc010xvz.1_Silent_p.R275R	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	297					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				0						TGTCAATCCGCGTGGATGGTA	0.592													T	41928571	C	T	41928571	2	4	236	1	0	0	0	0	0	0	0	1	1359	755	27	1		1	BCKDHA	19	41928571	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	12027	41928571	17200412	990	120167											
CEACAM5	1048	broad.mit.edu	37	chr19	42221555	42221555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaacaggaccctcactctActcagtgtcacaaggaatga	8	12	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:42221555A>G	uc002ork.2	+	5	1261	c.1140A>G	c.(1138-1140)CTA>CTG	p.L380L	CEACAM5_uc002orj.1_Silent_p.L379L|CEACAM5_uc002orl.2_Silent_p.L380L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	380	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCTCACTCTACTCAGTGTCA	0.498													G	42221555	A	G	42221555	2	3	236	1	0	0	0	0	0	0	0	1	3195	378	14	3		3	CEACAM5	19	42221555	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	292984	42221555	16907428	991	120168											
CIC	23152	broad.mit.edu	37	chr19	42791776	42791776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccctggtccaccagcGtcatcccaaccaggacaacc	9	19	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:42791776G>A	uc002otf.1	+	5	702	c.662G>A	c.(661-663)CGT>CAT	p.R221H		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	221	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTCCACCAGCGTCATCCCAAC	0.612			T	DUX4	soft tissue sarcoma								A	42791776	G	A	42791776	3	1	236	1	0	0	0	0	1	0	0	0	3424	1145	40	1	680	1	CIC	19	42791776	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	570221	42791776	16337207	992	120169											
PRR19	284338	broad.mit.edu	37	chr19	42814088	42814088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcccaggaaccagccCcacggtccagggacaaagag	14	14	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:42814088C>A	uc002oti.2	+	2	730	c.352C>A	c.(352-354)CCA>ACA	p.P118T	PRR19_uc002oth.1_Missense_Mutation_p.P118T|PRR19_uc002otj.2_Missense_Mutation_p.P118T	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	118											0		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672													A	42814088	C	A	42814088	3	1	236	1	0	0	0	0	1	0	0	0	12591	623	22	5	354	5	PRR19	19	42814088	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	22312	42814088	16314895	993	120170											
PSG7	5676	broad.mit.edu	37	chr19	43439735	43439735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaattatttgaccgtctActatatatgatgtaacataa	4	5	1	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:43439735A>G	uc002ovl.3	-	2	353	c.251T>C	c.(250-252)GTA>GCA	p.V84A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	84	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TTGACCGTCTACTATATATGA	0.418													G	43439735	A	G	43439735	3	3	236	1	0	0	0	0	1	0	0	0	12660	391	14	3	1028	3	PSG7	19	43439735	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	625647	43439735	15689248	994	120171											
XRCC1	7515	broad.mit.edu	37	chr19	44056177	44056177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaagcctacatgaggtgCgtgctgtcccgggtccagtc	14	13	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44056177C>T	uc002owt.2	-	9	1194	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T	XRCC1_uc010xwp.1_Silent_p.T327T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	358	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				ACATGAGGTGCGTGCTGTCCC	0.627								Other_BER_factors					T	44056177	C	T	44056177	2	4	236	1	0	0	0	0	0	0	0	1	17449	755	27	1		1	XRCC1	19	44056177	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	616442	44056177	15072806	995	120172											
ZNF234	10780	broad.mit.edu	37	chr19	44660800	44660800	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataagtgtgacgtgtgtggtAaggaatttagtcagagctca	13	4	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44660800A>T	uc002oym.2	+	6	938	c.631A>T	c.(631-633)AAG>TAG	p.K211*	ZNF234_uc002oyl.3_Nonsense_Mutation_p.K211*	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	211	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				CGTGTGTGGTAAGGAATTTAG	0.423													T	44660800	A	T	44660800	4	4	236	1	0	0	0	0	0	1	0	0	17784	363	13	5	645	5	ZNF234	19	44660800	Nonsense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	604623	44660800	14468183	996	120173											
ZNF226	7769	broad.mit.edu	37	chr19	44680402	44680402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacccatcagaaagtccaCgtgatagagaaaccatacaa	7	11	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44680402C>T	uc002oyp.2	+	6	1131	c.987C>T	c.(985-987)CAC>CAT	p.H329H	ZNF226_uc002oyq.2_Silent_p.H212H|ZNF226_uc002oyr.2_Silent_p.H212H|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.H329H|ZNF226_uc002oyt.2_Silent_p.H329H	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	329	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGAAAGTCCACGTGATAGAGA	0.433													T	44680402	C	T	44680402	2	4	236	1	0	0	0	0	0	0	0	1	17777	535	19	1		1	ZNF226	19	44680402	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	19602	44680402	14448581	997	120174											
ZNF235	9310	broad.mit.edu	37	chr19	44792700	44792700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctataactggtgtccttctcAtgtgtactacacgctggaga	9	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44792700A>G	uc002oza.3	-	5	991	c.888T>C	c.(886-888)CAT>CAC	p.H296H	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.H292H|ZNF235_uc010xwx.1_Silent_p.H210H	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				TGTCCTTCTCATGTGTACTAC	0.423													G	44792700	A	G	44792700	2	3	236	1	0	0	0	0	0	0	0	1	17785	214	8	3		3	ZNF235	19	44792700	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	112298	44792700	14336283	998	120175											
ZNF235	9310	broad.mit.edu	37	chr19	44807557	44807557	+	Frame_Shift_Del	DEL	T	T	-													acttacctggaacttggtcaTttttcccctcctccttctgg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44807556_44807556AT>A	uc002oza.4	-	1	105	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	ZNF235_uc002oyx.1_Non-coding_Transcript|ZNF235_uc010eji.3_Frame_Shift_Del_p.M1fs|ZNF235_uc002ozb.4_Frame_Shift_Del_p.M1fs	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	1					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)				GAACTTGGTCATTTTTCCCCT	0.438													-	44807557	T	-	44807557	7	5	236	1	0	1	0	1	0	0	0	0	17785	1493	52	0	2231	0	ZNF235	19	44807557	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	14857	44807557	14321426	999	120176											
CLPTM1	1209	broad.mit.edu	37	chr19	45490487	45490487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatcccatcatctacttcAatgactactggaacctgcag	5	13	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:45490487A>G	uc002pai.2	+	8	859	c.844A>G	c.(844-846)AAT>GAT	p.N282D	CLPTM1_uc010ejv.1_Missense_Mutation_p.N180D|CLPTM1_uc010xxf.1_Missense_Mutation_p.N180D|CLPTM1_uc010xxg.1_Missense_Mutation_p.N268D	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	282	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CATCTACTTCAATGACTACTG	0.612													G	45490487	A	G	45490487	3	3	236	1	0	0	0	0	1	0	0	0	3554	130	5	3	874	3	CLPTM1	19	45490487	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	682930	45490487	13638496	1000	120177											
CKM	1158	broad.mit.edu	37	chr19	45810056	45810058	+	In_Frame_Del	DEL	CTT	CTT	-													atggactggcctttctccaaCttcttctccatttccaccat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:45810055_45810057ACTT>A	uc002pbd.3	-	7	1270_1272	c.1097_1099AAGT>T	c.(1096-1101)aagttg>aTtg	p.366_367KL>I		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	366	Phosphagen kinase C-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)	CCTTTCTCCAACTTCTTCTCCAT	0.591													-	45810058	CTT	-	45810056	7	5	236	1	0	1	0	1	0	0	0	0	3448	564	20	0	51	0	CKM	19	45810056	In_Frame_Del	DEL	CTT	TCGA-F1-6874-01A-11D-1882-08	319569	45810056	13318927	1001	120178											
PPP1R13L	10848	broad.mit.edu	37	chr19	45899977	45899977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggggggagcctgcgcGgcccaggaagtcgaaaggcg	20	12	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:45899977G>A	uc002pbn.2	-	4	615	c.538C>T	c.(538-540)CGC>TGC	p.R180C	PPP1R13L_uc002pbo.2_Missense_Mutation_p.R180C|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R180C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	180	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GAGCCTGCGCGGCCCAGGAAG	0.796													A	45899977	G	A	45899977	3	1	236	1	0	0	0	0	1	0	0	0	12358	1116	39	1	1988	1	PPP1R13L	19	45899977	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	89921	45899977	13229006	1002	120179											
FKRP	79147	broad.mit.edu	37	chr19	47259842	47259842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaactgcgagcagctgCggggggcagaggccggctcg	20	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:47259842C>T	uc002pfn.2	+	4	1432	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	FKRP_uc002pfp.2_Missense_Mutation_p.R379W	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	379						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAGCAGCTGCGGGGGGCAGA	0.657													T	47259842	C	T	47259842	3	4	236	1	0	0	0	0	1	0	0	0	5917	759	27	1	1137	1	FKRP	19	47259842	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1359865	47259842	11869141	1003	120180											
NPAS1	4861	broad.mit.edu	37	chr19	47535965	47535965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctacatctcagagacagTctccatctatctgggtctct	6	14	6	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:47535965T>C	uc002pfw.2	+	5	693	c.497T>C	c.(496-498)GTC>GCC	p.V166A	NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Missense_Mutation_p.V166A|NPAS1_uc010xyj.1_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	166	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		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)		TCAGAGACAGTCTCCATCTAT	0.557											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	47535965	T	C	47535965	3	2	236	1	0	0	0	0	1	0	0	0	10562	1667	58	3	511	3	NPAS1	19	47535965	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	276123	47535965	11593018	1004	120181											
ZC3H4	23211	broad.mit.edu	37	chr19	47569698	47569698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccctcgcgggccGgactgttcccagcaaatggg	12	16	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:47569698G>A	uc002pga.3	-	15	3865	c.3827C>T	c.(3826-3828)CCG>CTG	p.P1276L	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1276							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		CTCGCGGGCCGGACTGTTCCC	0.637													A	47569698	G	A	47569698	3	1	236	1	0	0	0	0	1	0	0	0	17567	1116	39	1	88	1	ZC3H4	19	47569698	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	33733	47569698	11559285	1005	120182											
TPRX1	284355	broad.mit.edu	37	chr19	48305502	48305502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgagattgggcctgGgattgggcctgggatcaggc	19	8	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:48305502G>A	uc002php.1	-	2	837	c.766C>T	c.(766-768)CCA>TCA	p.P256S		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	256	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		attgggcctgggattgggcct	0.224													A	48305502	G	A	48305502	3	1	236	1	0	0	0	0	1	0	0	0	16419	1232	43	4	473	4	TPRX1	19	48305502	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	735804	48305502	10823481	1006	120183											
PPP1R15A	23645	broad.mit.edu	37	chr19	49379079	49379079	+	Frame_Shift_Del	DEL	C	C	-													cctcaggaacccacctttagCccccatccctgccctcaccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:49379078_49379078GC>G	uc002pky.4	+	2	2142	c.1873_1873GC>G	c.(1873-1875)gccfs	p.A625fs		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	625					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)		CCCACCTTTAGCCCCCATCCC	0.682													-	49379079	C	-	49379079	7	5	236	1	0	1	0	1	0	0	0	0	12363	739	26	0	1880	0	PPP1R15A	19	49379079	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	1073577	49379079	9749904	1007	120184											
IL4I1	259307	broad.mit.edu	37	chr19	50399160	50399160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctggggcttcagggtcCgattgagcccccaggtcacc	12	16	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:50399160C>A	uc002pqt.1	-	3	242	c.164G>T	c.(163-165)CGG>CTG	p.R55L	IL4I1_uc002pqv.1_Missense_Mutation_p.R64L|IL4I1_uc010eno.1_Missense_Mutation_p.R63L|IL4I1_uc002pqw.1_Missense_Mutation_p.R63L|IL4I1_uc002pqu.1_Missense_Mutation_p.R77L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	55						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		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)		CTTCAGGGTCCGATTGAGCCC	0.612													A	50399160	C	A	50399160	3	1	236	1	0	0	0	0	1	0	0	0	7697	652	23	5	1563	5	IL4I1	19	50399160	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1020081	50399160	8729823	1008	120185											
SIGLEC10	89790	broad.mit.edu	37	chr19	51914440	51914440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgcctgggaagttgagCgtggcataatggagctcctc	14	10	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:51914440C>T	uc002pwo.2	-	11	2623	c.2007G>A	c.(2005-2007)ACG>ACA	p.T669T	SIGLEC10_uc002pwp.2_Silent_p.T611T|SIGLEC10_uc002pwq.2_Silent_p.T516T|SIGLEC10_uc002pwr.2_Silent_p.T574T|SIGLEC10_uc010ycy.1_Silent_p.T484T|SIGLEC10_uc010ycz.1_Silent_p.T526T|SIGLEC10_uc010eow.2_Silent_p.T386T	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	669	ITIM motif 2.|Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAAGTTGAGCGTGGCATAAT	0.557													T	51914440	C	T	51914440	2	4	236	1	0	0	0	0	0	0	0	1	14306	755	27	1		1	SIGLEC10	19	51914440	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1515280	51914440	7214543	1009	120186											
MYADM	91663	broad.mit.edu	37	chr19	54377349	54377349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgcctgcatcatcttcgCgttcatcagcgaccccaacc	7	17	4	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:54377349C>T	uc002qcl.2	+	3	714	c.566C>T	c.(565-567)GCG>GTG	p.A189V	MYADM_uc002qcm.2_Missense_Mutation_p.A189V|MYADM_uc002qcn.2_Missense_Mutation_p.A189V|MYADM_uc002qco.2_Missense_Mutation_p.A189V|MYADM_uc002qcp.2_Missense_Mutation_p.A189V	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	189	MARVEL 2.|Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ATCATCTTCGCGTTCATCAGC	0.652													T	54377349	C	T	54377349	3	4	236	1	0	0	0	0	1	0	0	0	10006	768	27	1	568	1	MYADM	19	54377349	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2462909	54377349	4751634	1010	120187											
LENG8	114823	broad.mit.edu	37	chr19	54965667	54965667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccccctcagcagctgcCgtcggctcagccccctcagc	10	21	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:54965667C>T	uc002qfv.1	+	5	518	c.374C>T	c.(373-375)CCG>CTG	p.P125L	LENG8_uc002qfw.2_Missense_Mutation_p.P162L			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	125							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAGCAGCTGCCGTCGGCTCAG	0.657													T	54965667	C	T	54965667	3	4	236	1	0	0	0	0	1	0	0	0	8724	652	23	1	503	1	LENG8	19	54965667	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	588318	54965667	4163316	1011	120188											
LILRA2	11027	broad.mit.edu	37	chr19	55087381	55087381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggcagttccacactttcCttctgaccaaggagggggca	14	11	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:55087381C>A	uc002qgg.3	+	6	1149	c.1060C>A	c.(1060-1062)CTT>ATT	p.L354I	LILRA2_uc010ern.2_Missense_Mutation_p.L354I|LILRA2_uc002qgf.2_Missense_Mutation_p.L354I|LILRA2_uc010yfe.1_Missense_Mutation_p.L354I|LILRA2_uc010yff.1_Missense_Mutation_p.L342I|LILRA2_uc010ero.2_Missense_Mutation_p.L342I|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	354	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCACACTTTCCTTCTGACCAA	0.597													A	55087381	C	A	55087381	3	1	236	1	0	0	0	0	1	0	0	0	8785	681	24	5	1082	5	LILRA2	19	55087381	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	121714	55087381	4041602	1012	120189											
ZNF524	147807	broad.mit.edu	37	chr19	56113688	56113688	+	Frame_Shift_Del	DEL	G	G	-													cccccactggtgcaggtgcaGggggtgacagccccagtagg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:56113688delG	uc002qlk.1	+	2	293	c.210delG	c.(208-210)CAGfs	p.Q70fs	FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCAGGTGCAGGGGGTGACAG	0.672													-	56113688	G	-	56113688	7	5	236	1	0	1	0	1	0	0	0	0	17963	991	35	0	212	0	ZNF524	19	56113688	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1026307	56113688	3015295	1013	120190											
NLRP8	126205	broad.mit.edu	37	chr19	56477621	56477621	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttgaaccaggacttaatCggtgttttgacggggaacca	12	7	0	2	rs61740147	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:56477621C>T	uc002qmh.2	+	5	2327	c.2256C>T	c.(2254-2256)ATC>ATT	p.I752I	NLRP8_uc010etg.2_Silent_p.I752I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	752						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGACTTAATCGGTGTTTTGA	0.502													T	56477621	C	T	56477621	2	4	236	1	0	0	0	0	0	0	0	1	10483	874	31	1		1	NLRP8	19	56477621	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	363933	56477621	2651362	1014	120191											
ZNF667	63934	broad.mit.edu	37	chr19	56969550	56969550	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgtcttcttactggcTctaccatccagggtgctttc	9	15	3	0	rs139445582		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:56969550T>A	uc002qnd.2	-	4	389	c.227A>T	c.(226-228)GAG>GTG	p.E76V	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.E76V|ZNF667_uc010etm.2_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCTTACTGGCTCTACCATCCA	0.368													A	56969550	T	A	56969550	3	1	236	1	0	0	0	0	1	0	0	0	18071	1551	54	5	1613	5	ZNF667	19	56969550	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	491929	56969550	2159433	1015	120192											
ZNF460	10794	broad.mit.edu	37	chr19	57802483	57802483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatgagcagattctccctCgtgtgaagccctatgattgc	10	11	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:57802483C>T	uc002qog.2	+	3	896	c.574C>T	c.(574-576)CGT>TGT	p.R192C	ZNF460_uc010ygv.1_Missense_Mutation_p.R151C	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATTCTCCCTCGTGTGAAGCC	0.438													T	57802483	C	T	57802483	3	4	236	1	0	0	0	0	1	0	0	0	17921	884	31	1	584	1	ZNF460	19	57802483	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	832933	57802483	1326500	1016	120193											
TGM6	343641	broad.mit.edu	37	chr20	2378642	2378642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaacccagccaccgacGtgtcctgccgccacaacccc	6	20	0	0	rs61743614	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:2378642G>A	uc002wfy.1	+	5	683	c.622G>A	c.(622-624)GTG>ATG	p.V208M	TGM6_uc010gal.1_Missense_Mutation_p.V208M	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	208					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AGCCACCGACGTGTCCTGCCG	0.592													A	2378642	G	A	2378642	3	1	236	1	0	0	0	0	1	0	0	0	15831	1145	40	1	640	1	TGM6	20	2378642	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08		2378642	60646878	1017	120194											
NOP56	10528	broad.mit.edu	37	chr20	2635586	2635586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcaataccttctctatgCgtgtcaggtaaagtgcaggg	10	9	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:2635586C>T	uc002wgh.2	+	5	615	c.562C>T	c.(562-564)CGT>TGT	p.R188C	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.R22C|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	188					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						CTTCTCTATGCGTGTCAGGTA	0.463													T	2635586	C	T	2635586	3	4	236	1	0	0	0	0	1	0	0	0	10539	768	27	1	580	1	NOP56	20	2635586	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	256944	2635586	60389934	1018	120195											
PLCB4	5332	broad.mit.edu	37	chr20	9449312	9449312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcaagaataaagcagaaCgggaaaggtaagtctgagag	12	5	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:9449312C>T	uc002wnf.2	+	34	3443	c.3307C>T	c.(3307-3309)CGG>TGG	p.R1103W	PLCB4_uc010gbx.2_Missense_Mutation_p.R1115W|PLCB4_uc002wne.2_Missense_Mutation_p.R1103W|PLCB4_uc002wnh.2_Missense_Mutation_p.R950W	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1103					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						TAAAGCAGAACGGGAAAGGTA	0.418													T	9449312	C	T	9449312	3	4	236	1	0	0	0	0	1	0	0	0	12030	527	19	1	3473	1	PLCB4	20	9449312	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6813726	9449312	53576208	1019	120196											
BTBD3	22903	broad.mit.edu	37	chr20	11899095	11899096	+	Frame_Shift_Ins	INS	-	-	A													aataattaccttgaagactaINSaaaagaagaagatggctgct							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:11899094_11899095T>TA	uc002wnz.3	+	0	530_531	c.171_172T>TA	c.(169-174)actaaafs	p.T57fs	BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	57										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CCTTGAAGACTAAAAAGAAGAA	0.45													A	11899096	-	A	11899095	7	5	236	1	0	1	1	0	0	0	0	0	1544	363	13	0	174	0	BTBD3	20	11899095	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	2449783	11899095	51126425	1020	120197											
CSRP2BP	57325	broad.mit.edu	37	chr20	18163930	18163931	+	Frame_Shift_Ins	INS	-	-	T													caactccatgtgtcaggagtINSttttttggcctggtatgttc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:18163929_18163930G>GT	uc021wbb.1	+	7	2408_2409	c.1971_1972G>GT	c.(1969-1974)gagtttfs	p.E657fs	CSRP2BP_uc002wqk.3_Frame_Shift_Ins_p.E529fs|CSRP2BP_uc010zru.2_Frame_Shift_Ins_p.E528fs	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	657	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						TGTGTCAGGAGTTTTTTTGGCC	0.47													T	18163931	-	T	18163930	7	5	236	1	0	1	1	0	0	0	0	0	3968	1725	60	0	2002	0	CSRP2BP	20	18163930	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	6264835	18163930	44861590	1021	120198											
C20orf12	55184	broad.mit.edu	37	chr20	18365044	18365044	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtggaggcctcagggcTaacagtcatccaggctgagg	14	12	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:18365044T>C	uc010zsa.1	-	21	2524	c.2315A>G	c.(2314-2316)TAG>TGG	p.*772W	C20orf12_uc010zrz.1_Nonstop_Mutation_p.*291W|C20orf12_uc002wqp.3_Nonstop_Mutation_p.*463W|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Nonstop_Mutation_p.*639W|C20orf12_uc002wqq.3_Nonstop_Mutation_p.*753W	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	772						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				GCCTCAGGGCTAACAGTCATC	0.388													C	18365044	T	C	18365044	4	2	236	1	0	0	0	0	0	0	0	0	2085	1535	53	3	4	3	C20orf12	20	18365044	Nonstop_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	201114	18365044	44660476	1022	120199											
RALGAPA2	57186	broad.mit.edu	37	chr20	20453589	20453589	+	Frame_Shift_Del	DEL	A	A	-													gctccatcaaacagaggcccAaaaaatggaacctgttgatt							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:20453588_20453588CA>C	uc002wrz.3	-	36	5523	c.5380_5380TG>G	c.(5380-5382)gggfs	p.G1794fs	RALGAPA2_uc002wry.3_Frame_Shift_Del_p.G1409fs|RALGAPA2_uc010zsg.2_Frame_Shift_Del_p.G1242fs|RALGAPA2_uc002wsa.1_Frame_Shift_Del_p.G566fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1794	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization 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						AACAGAGGCCCAAAAAATGGA	0.448													-	20453589	A	-	20453589	7	5	236	1	0	1	0	1	0	0	0	0	13014	127	5	0	254	0	RALGAPA2	20	20453589	Frame_Shift_Del	DEL	A	TCGA-F1-6874-01A-11D-1882-08	2088545	20453589	42571931	1023	120200											
ACSS1	84532	broad.mit.edu	37	chr20	25038512	25038512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacgagagtgtcccgcgccAgaggcccccagaaggcggcc	14	16	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:25038512A>G	uc002wub.2	-	1	1105	c.227T>C	c.(226-228)CTG>CCG	p.L76P	ACSS1_uc002wuc.2_Missense_Mutation_p.L76P|ACSS1_uc010gdc.2_Missense_Mutation_p.L76P	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	76					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCCCGCGCCAGAGGCCCCCA	0.672													G	25038512	A	G	25038512	3	3	236	1	0	0	0	0	1	0	0	0	188	188	7	3	1898	3	ACSS1	20	25038512	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	4584923	25038512	37987008	1024	120201											
MYLK2	85366	broad.mit.edu	37	chr20	30419926	30419926	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttaagaaatacctcatgaAgaggcgctggaaggtaccgc	12	9	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30419926A>T	uc002wwq.2	+	12	1799	c.1697A>T	c.(1696-1698)AAG>ATG	p.K566M	MYLK2_uc002wws.2_Missense_Mutation_p.K183M|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	566					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TACCTCATGAAGAGGCGCTGG	0.582													T	30419926	A	T	30419926	3	4	236	1	0	0	0	0	1	0	0	0	10057	72	3	5	1739	5	MYLK2	20	30419926	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	5381414	30419926	32605594	1025	120202											
TTLL9	164395	broad.mit.edu	37	chr20	30497561	30497561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccggaagaactacatgGtgaagaacctgaagcggttc	12	9	0	5			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30497561G>A	uc010gdx.1	+	6	593	c.340G>A	c.(340-342)GTG>ATG	p.V114M	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	114	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAACTACATGGTGAAGAACCT	0.607													A	30497561	G	A	30497561	3	1	236	1	0	0	0	0	1	0	0	0	16731	1261	44	4	358	4	TTLL9	20	30497561	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	77635	30497561	32527959	1026	120203											
TM9SF4	9777	broad.mit.edu	37	chr20	30730868	30730868	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagcacacgtaccgtgtCgtccgcttcgaggtgattcc	12	13	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30730868C>T	uc002wxj.2	+	6	847	c.612C>T	c.(610-612)GTC>GTT	p.V204V	TM9SF4_uc010ztr.1_Silent_p.V130V|TM9SF4_uc010zts.1_Silent_p.V111V|TM9SF4_uc002wxk.2_Silent_p.V187V|TM9SF4_uc010gdz.2_Silent_p.V111V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	204						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTACCGTGTCGTCCGCTTCG	0.592													T	30730868	C	T	30730868	2	4	236	1	0	0	0	0	0	0	0	1	15977	871	31	1		1	TM9SF4	20	30730868	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	233307	30730868	32294652	1027	120204											
TM9SF4	9777	broad.mit.edu	37	chr20	30734633	30734633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctccggaaggacattgCcaactacaacaaggaggatg	11	11	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30734633C>T	uc002wxj.2	+	9	1164	c.929C>T	c.(928-930)GCC>GTC	p.A310V	TM9SF4_uc010ztr.1_Missense_Mutation_p.A236V|TM9SF4_uc010zts.1_Missense_Mutation_p.A217V|TM9SF4_uc002wxk.2_Missense_Mutation_p.A293V|TM9SF4_uc010gdz.2_Missense_Mutation_p.A217V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	310						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGGACATTGCCAACTACAAC	0.532													T	30734633	C	T	30734633	3	4	236	1	0	0	0	0	1	0	0	0	15977	739	26	2	963	2	TM9SF4	20	30734633	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3765	30734633	32290887	1028	120205											
ASXL1	171023	broad.mit.edu	37	chr20	31024830	31024830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaactcagcatcaagcagGcattttatgggaagctttct	8	11	3	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:31024830G>A	uc002wxs.2	+	12	4741	c.4315G>A	c.(4315-4317)GCA>ACA	p.A1439T	ASXL1_uc010geb.2_Missense_Mutation_p.A1330T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1439					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CATCAAGCAGGCATTTTATGG	0.517			F|N|Mis		MDS|CMML								A	31024830	G	A	31024830	3	1	236	1	0	0	0	0	1	0	0	0	1066	1203	42	2	4371	2	ASXL1	20	31024830	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	290197	31024830	32000690	1029	120206											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232401	32232401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacctcggcaaccacatcGcgttcctcaacacctgcttc	6	17	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:32232401G>A	uc002wzg.1	+	12	2301	c.1764G>A	c.(1762-1764)TCG>TCA	p.S588S	CBFA2T2_uc010zug.1_Silent_p.S362S|CBFA2T2_uc002wze.1_Silent_p.S579S|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.S559S|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.S136S	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	588						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CAACCACATCGCGTTCCTCAA	0.637													A	32232401	G	A	32232401	2	1	236	1	0	0	0	0	0	0	0	1	2697	1074	38	1		1	CBFA2T2	20	32232401	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1207571	32232401	30793119	1030	120207											
RALY	22913	broad.mit.edu	37	chr20	32660136	32660136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccgggcagaccctgGgtaagcctctcttcactata	11	13	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:32660136G>T	uc002xab.2	+	3	554	c.256G>T	c.(256-258)GAC>TAC	p.D86Y	RALY_uc010zui.1_Missense_Mutation_p.D86Y|RALY_uc002xac.2_Missense_Mutation_p.D86Y|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.D86Y	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	86	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						GCAGACCCTGGGTAAGCCTCT	0.537													T	32660136	G	T	32660136	3	4	236	1	0	0	0	0	1	0	0	0	13019	1246	43	5	258	5	RALY	20	32660136	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	427735	32660136	30365384	1031	120208											
NCOA6	23054	broad.mit.edu	37	chr20	33345220	33345220	+	Frame_Shift_Del	DEL	G	G	-													gctgagtttggttaaccgttGgggaggatgcaggggatccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:33345219_33345219TG>T	uc002xav.3	-	7	3903	c.1332_1332CA>A	c.(1330-1332)ccafs	p.P444fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P444fs|NCOA6_uc021wcd.1_Frame_Shift_Del_p.P444fs|NCOA6_uc021wce.1_Frame_Shift_Del_p.P444fs|NCOA6_uc021wcf.1_Frame_Shift_Del_p.P444fs|NCOA6_uc010gew.1_Frame_Shift_Del_p.P401fs	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	444	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|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						GGTTAACCGTTGGGGAGGATG	0.592													-	33345220	G	-	33345220	7	5	236	1	0	1	0	1	0	0	0	0	10233	1348	47	0	4896	0	NCOA6	20	33345220	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	685084	33345220	29680300	1032	120209											
PHF20	51230	broad.mit.edu	37	chr20	34526919	34526919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgccctcgacgatgcGgtcaaccccctccatgagaa	10	16	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:34526919G>A	uc002xek.1	+	16	2712	c.2601G>A	c.(2599-2601)GCG>GCA	p.A867A		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	867					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TCGACGATGCGGTCAACCCCC	0.622													A	34526919	G	A	34526919	2	1	236	1	0	0	0	0	0	0	0	1	11831	1103	39	1		1	PHF20	20	34526919	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1181699	34526919	28498601	1033	120210											
EPB41L1	2036	broad.mit.edu	37	chr20	34785928	34785928	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccctcctcccccgcctccCcctcccccaagggcacccct	5	27	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:34785928C>G	uc002xfb.2	+	14	1804	c.1633C>G	c.(1633-1635)CCC>GCC	p.P545A	EPB41L1_uc002xeu.2_Missense_Mutation_p.P471A|EPB41L1_uc010zvo.1_Missense_Mutation_p.P545A|EPB41L1_uc002xev.2_Missense_Mutation_p.P545A|EPB41L1_uc002xew.2_Missense_Mutation_p.P436A|EPB41L1_uc002xex.2_Missense_Mutation_p.P502A|EPB41L1_uc002xey.2_Missense_Mutation_p.P460A|EPB41L1_uc002xez.2_Missense_Mutation_p.P471A|EPB41L1_uc010gfq.2_5'UTR	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	545					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CCCCGCCTCCCCCTCCCCCAA	0.612													G	34785928	C	G	34785928	3	3	236	1	0	0	0	0	1	0	0	0	5152	623	22	5	1683	5	EPB41L1	20	34785928	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	259009	34785928	28239592	1034	120211											
DHX35	60625	broad.mit.edu	37	chr20	37634835	37634835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctctatcacaatcagcgGcattgtgtatgtgatcgact	8	10	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:37634835G>A	uc002xjh.2	+	12	1069	c.1058G>A	c.(1057-1059)GGC>GAC	p.G353D	DHX35_uc010zwa.1_Missense_Mutation_p.G198D|DHX35_uc010zwb.1_Missense_Mutation_p.G198D|DHX35_uc010zwc.1_Missense_Mutation_p.G322D	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	353	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				ACAATCAGCGGCATTGTGTAT	0.453													A	37634835	G	A	37634835	3	1	236	1	0	0	0	0	1	0	0	0	4508	1203	42	2	1104	2	DHX35	20	37634835	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2848907	37634835	25390685	1035	120212											
CHD6	84181	broad.mit.edu	37	chr20	40081514	40081514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaaactccatgagctcGtcttcctcaaacgagttgta	7	11	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:40081514G>A	uc002xka.1	-	21	3367	c.3189C>T	c.(3187-3189)GAC>GAT	p.D1063D		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1063					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CCATGAGCTCGTCTTCCTCAA	0.522													A	40081514	G	A	40081514	2	1	236	1	0	0	0	0	0	0	0	1	3329	1136	40	1		1	CHD6	20	40081514	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2446679	40081514	22944006	1036	120213											
PIGT	51604	broad.mit.edu	37	chr20	44049195	44049195	+	Frame_Shift_Del	DEL	C	C	-													agacattagaggtgcacccaCccccgaccactacatatcag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:44049194_44049194AC>A	uc002xoh.2	+	7	984	c.894_894AC>A	c.(892-894)ccafs	p.P298fs	PIGT_uc010ghb.2_Frame_Shift_Del_p.P288fs|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Frame_Shift_Del_p.P205fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.P261fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.P251fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.P36fs|PIGT_uc010zww.2_Frame_Shift_Del_p.P242fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.P196fs|PIGT_uc002xoj.2_Frame_Shift_Del_p.P298fs|PIGT_uc010zwu.2_Frame_Shift_Del_p.P36fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.P36fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.P133fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.P136fs|PIGT_uc002xol.1_Frame_Shift_Del_p.P154fs|PIGT_uc010zxb.1_5'UTR	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	298					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				AGGTGCACCCACCCCCGACCA	0.547													-	44049195	C	-	44049195	7	5	236	1	0	1	0	1	0	0	0	0	11899	507	18	0	925	0	PIGT	20	44049195	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	3967681	44049195	18976325	1037	120214											
SPINLW1	57119	broad.mit.edu	37	chr20	44171359	44171359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttattcttgcaggtgttcAggcagttggctttggattgg	14	5	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:44171359A>C	uc002xou.2	-	3	403	c.371T>G	c.(370-372)CTG>CGG	p.L124R	SPINLW1_uc010zxc.1_Missense_Mutation_p.L124R|SPINLW1_uc002xot.2_Missense_Mutation_p.L108R|SPINLW1_uc002xov.1_3'UTR	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	124	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GCAGGTGTTCAGGCAGTTGGC	0.498													C	44171359	A	C	44171359	3	2	236	1	0	0	0	0	1	0	0	0	15066	188	7	5	38	5	SPINLW1	20	44171359	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	122164	44171359	18854161	1038	120215											
MMP9	4318	broad.mit.edu	37	chr20	44641176	44641176	+	Frame_Shift_Del	DEL	C	C	-													tgtaccgcttcactgaggggCcccccttgcataaggacgac							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:44641175_44641175GC>G	uc002xqz.3	+	7	1303	c.1284_1284GC>G	c.(1282-1284)gggfs	p.G428fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	428					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCACTGAGGGGCCCCCCTTGC	0.627													-	44641176	C	-	44641176	7	5	236	1	0	1	0	1	0	0	0	0	9669	739	26	0	1315	0	MMP9	20	44641176	Frame_Shift_Del	DEL	C	TCGA-F1-6874-01A-11D-1882-08	469817	44641176	18384344	1039	120216											
SULF2	55959	broad.mit.edu	37	chr20	46300955	46300955	+	Frame_Shift_Del	DEL	T	T	-													cacttactcttcttgaagagTtttttccggcgtccggccag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:46300954_46300954GT>G	uc002xto.3	-	10	1894	c.1564_1564AC>C	c.(1564-1566)ctcfs	p.L522fs	SULF2_uc002xtr.3_Frame_Shift_Del_p.L522fs|SULF2_uc002xtq.3_Frame_Shift_Del_p.L522fs	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	522					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	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						TTCTTGAAGAGTTTTTTCCGG	0.597													-	46300955	T	-	46300955	7	5	236	1	0	1	0	1	0	0	0	0	15370	1722	60	0	1093	0	SULF2	20	46300955	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	1659779	46300955	16724565	1040	120217											
ARFGEF2	10564	broad.mit.edu	37	chr20	47592562	47592562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctccgcaggtcaggagaGgctcacggatcaggaaatag	13	9	4	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:47592562G>T	uc002xtx.3	+	14	1936	c.1784G>T	c.(1783-1785)AGG>ATG	p.R595M		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	595					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGTCAGGAGAGGCTCACGGAT	0.552													T	47592562	G	T	47592562	3	4	236	1	0	0	0	0	1	0	0	0	853	1000	35	5	1838	5	ARFGEF2	20	47592562	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1291607	47592562	15432958	1041	120218											
STAU1	6780	broad.mit.edu	37	chr20	47734557	47734557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacagcctgggcgacctcGggcaccatgggaagaattcc	12	14	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:47734557G>A	uc002xud.2	-	11	1677	c.1266C>T	c.(1264-1266)CCC>CCT	p.P422P	STAU1_uc002xua.2_Silent_p.P341P|STAU1_uc002xub.2_Silent_p.P347P|STAU1_uc002xuc.2_Silent_p.P341P|STAU1_uc002xue.2_Silent_p.P341P|STAU1_uc002xuf.2_Silent_p.P347P|STAU1_uc002xug.2_Silent_p.P422P	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	422						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGGCGACCTCGGGCACCATGG	0.517													A	47734557	G	A	47734557	2	1	236	1	0	0	0	0	0	0	0	1	15271	1103	39	1		1	STAU1	20	47734557	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	141995	47734557	15290963	1042	120219											
PARD6B	84612	broad.mit.edu	37	chr20	49354499	49354499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagatccccaatgttgacGttttggtaggctatgcagac	10	8	0	3	rs142377445		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:49354499G>A	uc002xvo.2	+	2	415	c.172G>A	c.(172-174)GTT>ATT	p.V58I		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 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			kidney(1)	1						CAATGTTGACGTTTTGGTAGG	0.383													A	49354499	G	A	49354499	3	1	236	1	0	0	0	0	1	0	0	0	11446	1145	40	1	178	1	PARD6B	20	49354499	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1619942	49354499	13671021	1043	120220											
ADNP	23394	broad.mit.edu	37	chr20	49510515	49510515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgacctgatagcctatacGttcatggtcttcgatgacat	9	9	2	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:49510515G>A	uc002xvt.1	-	5	1081	c.736C>T	c.(736-738)CGT>TGT	p.R246C	ADNP_uc002xvu.1_Missense_Mutation_p.R246C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	246						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TAGCCTATACGTTCATGGTCT	0.468													A	49510515	G	A	49510515	3	1	236	1	0	0	0	0	1	0	0	0	323	1145	40	1	2576	1	ADNP	20	49510515	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	156016	49510515	13515005	1044	120221											
ATP9A	10079	broad.mit.edu	37	chr20	50346505	50346505	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaccgcagcatctcagCcactcgcagcacctgtggga	9	18	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:50346505C>T	uc002xwg.1	-	2	81	c.81G>A	c.(79-81)TGG>TGA	p.W27*	ATP9A_uc010gih.1_Nonsense_Mutation_p.W12*	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	27	Cytoplasmic (Potential).				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			ovary(4)	4						AGCATCTCAGCCACTCGCAGC	0.602													T	50346505	C	T	50346505	4	4	236	1	0	0	0	0	0	1	0	0	1198	740	26	2	3170	2	ATP9A	20	50346505	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	835990	50346505	12679015	1045	120222											
CSTF1	1477	broad.mit.edu	37	chr20	54974190	54974190	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatgttccgttaattacaaTtctagtgccaatatgtacgt	6	7	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:54974190T>A	uc002xxl.1	+	5	1013	c.813T>A	c.(811-813)AAT>AAA	p.N271K	CSTF1_uc002xxm.1_Missense_Mutation_p.N271K|CSTF1_uc002xxn.1_Missense_Mutation_p.N271K|CSTF1_uc002xxo.1_Missense_Mutation_p.N214K	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	271	WD 4.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			TTAATTACAATTCTAGTGCCA	0.393													A	54974190	T	A	54974190	3	1	236	1	0	0	0	0	1	0	0	0	3983	1490	52	5	827	5	CSTF1	20	54974190	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	4627685	54974190	8051330	1046	120223											
PHACTR3	116154	broad.mit.edu	37	chr20	58420272	58420272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaaagaattaaatgagtAcaaaagtaatgaaatggagg	10	2	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:58420272A>G	uc002yau.2	+	12	2083	c.1616A>G	c.(1615-1617)TAC>TGC	p.Y539C	PHACTR3_uc002yat.2_Missense_Mutation_p.Y536C|PHACTR3_uc010zzw.1_Missense_Mutation_p.Y498C|PHACTR3_uc002yav.2_Missense_Mutation_p.Y498C|PHACTR3_uc002yaw.2_Missense_Mutation_p.Y498C|PHACTR3_uc002yax.2_Missense_Mutation_p.Y428C|PHACTR3_uc002yay.2_Missense_Mutation_p.Y108C	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	539						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTAAATGAGTACAAAAGTAAT	0.313													G	58420272	A	G	58420272	3	3	236	1	0	0	0	0	1	0	0	0	11811	391	14	3	1662	3	PHACTR3	20	58420272	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08	3446082	58420272	4605248	1047	120224											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514392	58514392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacctgcttctcgaaggCcacgttgcacacgcgcaccg	10	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:58514392C>T	uc002ybb.2	-	1	961	c.595G>A	c.(595-597)GCC>ACC	p.A199T	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	199	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TTCTCGAAGGCCACGTTGCAC	0.701													T	58514392	C	T	58514392	3	4	236	1	0	0	0	0	1	0	0	0	12374	739	26	2	308	2	PPP1R3D	20	58514392	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	94120	58514392	4511128	1048	120225											
CDH4	1002	broad.mit.edu	37	chr20	60509202	60509202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgcgtggatgagcggcCggtgggcgctgagccccagt	19	12	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:60509202C>T	uc002ybn.1	+	15	2482	c.2468C>T	c.(2467-2469)CCG>CTG	p.P823L	CDH4_uc002ybp.1_Missense_Mutation_p.P749L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	823	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GATGAGCGGCCGGTGGGCGCT	0.677													T	60509202	C	T	60509202	3	4	236	1	0	0	0	0	1	0	0	0	3112	652	23	1	2526	1	CDH4	20	60509202	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1994810	60509202	2516318	1049	120226											
TAF4	6874	broad.mit.edu	37	chr20	60551346	60551346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgtgaactgtctgggggTtccgacacccgagctgcctg	14	13	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:60551346T>G	uc002ybs.2	-	15	3136	c.3136A>C	c.(3136-3138)ACC>CCC	p.T1046P		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1046					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			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGTCTGGGGGTTCCGACACCC	0.557													G	60551346	T	G	60551346	3	3	236	1	0	0	0	0	1	0	0	0	15523	1725	60	5	125	5	TAF4	20	60551346	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	42144	60551346	2474174	1050	120227											
CABLES2	81928	broad.mit.edu	37	chr20	60967476	60967476	+	Frame_Shift_Del	DEL	G	G	-													gctcagcgtcagtttgacatGggggaacttctccctgaagg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:60967475_60967475TG>T	uc002ycv.2	-	7	1068	c.1061_1061CA>A	c.(1060-1062)catfs	p.H354fs		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	354					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGTTTGACATGGGGGAACTT	0.542													-	60967476	G	-	60967476	7	5	236	1	0	1	0	1	0	0	0	0	2530	1348	47	0	388	0	CABLES2	20	60967476	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	416130	60967476	2058044	1051	120228											
CHRNA4	1137	broad.mit.edu	37	chr20	61982302	61982302	+	Frame_Shift_Del	DEL	G	G	-													aggagctcttgtaaatggccGggggagtccactgcacccgc					rs121912245	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:61982301_61982301CG>C	uc002yes.2	-	4	640	c.462_462CG>G	c.(460-462)ccgfs	p.P154fs	CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc010gke.1_Frame_Shift_Del_p.P83fs|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	154					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|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)	TGTAAATGGCCGGGGGAGTCC	0.612													-	61982302	G	-	61982302	7	5	236	1	0	1	0	1	0	0	0	0	3385	1116	39	0	1430	0	CHRNA4	20	61982302	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1014826	61982302	1043218	1052	120229											
GMEB2	26205	broad.mit.edu	37	chr20	62223391	62223391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctgccaggtcccgggcGtactgctcccgcgagcggtc	13	16	0	0	rs145663342		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:62223391G>A	uc002yfp.1	-	8	1415	c.936C>T	c.(934-936)TAC>TAT	p.Y312Y	GMEB2_uc002yfo.1_Silent_p.Y234Y|GMEB2_uc002yfq.1_Silent_p.Y312Y	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	312	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	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)			GGTCCCGGGCGTACTGCTCCC	0.647													A	62223391	G	A	62223391	2	1	236	1	0	0	0	0	0	0	0	1	6488	1140	40	1		1	GMEB2	20	62223391	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	241089	62223391	802129	1053	120230											
ZBTB46	140685	broad.mit.edu	37	chr20	62421759	62421759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcgtggcaggcttgcaCgatgtccgtcatctgcagga	14	10	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:62421759C>T	uc002ygv.1	-	2	553	c.352G>A	c.(352-354)GTG>ATG	p.V118M	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGGCTTGCACGATGTCCGTC	0.602													T	62421759	C	T	62421759	3	4	236	1	0	0	0	0	1	0	0	0	17544	536	19	1	1433	1	ZBTB46	20	62421759	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	198368	62421759	603761	1054	120231											
NCAM2	4685	broad.mit.edu	37	chr21	22849643	22849643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccaatggctagagaaaaAagtgcaaggaaataaagacc	10	6	0	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:22849643A>G	uc002yld.1	+	15	2177	c.1928A>G	c.(1927-1929)AAA>AGA	p.K643R	NCAM2_uc011acb.1_Missense_Mutation_p.K501R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	643	Fibronectin type-III 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		CTAGAGAAAAAAGTGCAAGGA	0.353													G	22849643	A	G	22849643	3	3	236	1	0	0	0	0	1	0	0	0	10203	14	1	3	1986	3	NCAM2	21	22849643	Missense_Mutation	SNP	A	TCGA-F1-6874-01A-11D-1882-08		22849643	25280252	1055	120232											
NCAM2	4685	broad.mit.edu	37	chr21	22881367	22881367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactcgaagaaggaaaagCtgcatacctgtgagtatcag	11	7	1	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:22881367C>T	uc002yld.1	+	16	2522	c.2273C>T	c.(2272-2274)GCT>GTT	p.A758V	NCAM2_uc011acb.1_Missense_Mutation_p.A616V	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	758	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		GAAGGAAAAGCTGCATACCTG	0.453													T	22881367	C	T	22881367	3	4	236	1	0	0	0	0	1	0	0	0	10203	797	28	2	2335	2	NCAM2	21	22881367	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	31724	22881367	25248528	1056	120233											
RNF160	26046	broad.mit.edu	37	chr21	30339315	30339315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggctcactgattttcgCaacacagatctctgacagtc	7	12	3	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:30339315C>T	uc002ymr.2	-	10	1649	c.1636G>A	c.(1636-1638)GCG>ACG	p.A546T	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	500							ligase activity|zinc ion binding				0						CTGATTTTCGCAACACAGATC	0.438													T	30339315	C	T	30339315	3	4	236	1	0	0	0	0	1	0	0	0	13455	710	25	2	3886	2	RNF160	21	30339315	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7457948	30339315	17790580	1057	120234											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869351	31869351	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaagctgccacatccacaGccatagccatagcctaggcc	9	16	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:31869351G>T	uc011acz.1	-	1	78	c.78C>A	c.(76-78)GGC>GGA	p.G26G		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	26						intermediate filament				ovary(2)	2						CACATCCACAGCCATAGCCAT	0.547													T	31869351	G	T	31869351	2	4	236	1	0	0	0	0	0	0	0	1	8531	958	34	5		5	KRTAP19-4	21	31869351	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1530036	31869351	16260544	1058	120235											
TIAM1	7074	broad.mit.edu	37	chr21	32496898	32496898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcttttgcctccaaaAgggacatattgctgggatga	9	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:32496898A>G	uc002yow.1	-	28	4720	c.4248T>C	c.(4246-4248)CCT>CCC	p.P1416P	TIAM1_uc011adk.1_Silent_p.P1416P|TIAM1_uc011adl.1_Silent_p.P1356P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1416					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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCCTCCAAAAGGGACATATT	0.537													G	32496898	A	G	32496898	2	3	236	1	0	0	0	0	0	0	0	1	15887	59	3	3		3	TIAM1	21	32496898	Silent	SNP	A	TCGA-F1-6874-01A-11D-1882-08	627547	32496898	15632997	1059	120236											
GART	2618	broad.mit.edu	37	chr21	34889350	34889350	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgttctctagtaatcCtccaccagtaatatgggcaa	10	9	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:34889350C>A	uc002yrx.2	-	16	2188	c.2053G>T	c.(2053-2055)GGA>TGA	p.G685*	GART_uc002yrz.2_Nonsense_Mutation_p.G685*|GART_uc010gmd.2_Nonsense_Mutation_p.G347*|GART_uc002yry.2_Nonsense_Mutation_p.G685*	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	685	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			ovary(1)	1					Pemetrexed(DB00642)	TCTAGTAATCCTCCACCAGTA	0.448													A	34889350	C	A	34889350	4	1	236	1	0	0	0	0	0	1	0	0	6243	690	24	5	1007	5	GART	21	34889350	Nonsense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2392452	34889350	13240545	1060	120237											
RUNX1	861	broad.mit.edu	37	chr21	36164838	36164838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcctggatagtgcatgCgggggtcggagatggagggc	21	7	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:36164838C>T	uc002yuh.2	-	6	2534	c.956G>A	c.(955-957)CGC>CAC	p.R319H	RUNX1_uc002yui.2_Missense_Mutation_p.R255H|RUNX1_uc010gmu.2_Missense_Mutation_p.R346H|RUNX1_uc010gmv.2_Missense_Mutation_p.R346H|RUNX1_uc002yuj.3_Missense_Mutation_p.R214H|RUNX1_uc002yuk.3_Missense_Mutation_p.R346H	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	319	Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R346fs*137(2)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						ATAGTGCATGCGGGGGTCGGA	0.701			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				T	36164838	C	T	36164838	3	4	236	1	0	0	0	0	1	0	0	0	13746	768	27	1	409	1	RUNX1	21	36164838	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1275488	36164838	11965057	1061	120238											
LCA5L	150082	broad.mit.edu	37	chr21	40782015	40782015	+	Frame_Shift_Del	DEL	T	T	-													gatcgatgtttcctgttgccTttttaccctgtaatttagaa							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:40782015delT	uc002yxu.2	-	9	1485	c.1172delA	c.(1171-1173)AAGfs	p.K391fs	LCA5L_uc002yxv.2_Frame_Shift_Del_p.K391fs	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	391											0		Prostate(19;1.2e-06)				TCCTGTTGCCTTTTTACCCTG	0.313													-	40782015	T	-	40782015	7	5	236	1	0	1	0	1	0	0	0	0	8657	1609	56	0	848	0	LCA5L	21	40782015	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08	4617177	40782015	7347880	1062	120239											
B3GALT5	10317	broad.mit.edu	37	chr21	41032654	41032654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagactgcaggcagacaccTcccttcctcgtcctgctggt	9	16	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:41032654T>C	uc002yyb.1	+	5	760	c.168T>C	c.(166-168)CCT>CCC	p.P56P	B3GALT5_uc002yye.2_Silent_p.P56P|B3GALT5_uc002yyi.1_Silent_p.P56P|B3GALT5_uc002yyj.1_Silent_p.P56P|B3GALT5_uc002yyk.1_Silent_p.P56P|B3GALT5_uc002yyl.1_Silent_p.P56P|B3GALT5_uc002yym.1_Silent_p.P56P	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	56	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				GGCAGACACCTCCCTTCCTCG	0.512													C	41032654	T	C	41032654	2	2	236	1	0	0	0	0	0	0	0	1	1250	1538	54	3		3	B3GALT5	21	41032654	Silent	SNP	T	TCGA-F1-6874-01A-11D-1882-08	250639	41032654	7097241	1063	120240											
MX2	4600	broad.mit.edu	37	chr21	42762585	42762585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgccaccacggaggcgCtgagcatggcccatgaggtg	14	12	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:42762585C>T	uc002yzf.1	+	6	930	c.826C>T	c.(826-828)CTG>TTG	p.L276L	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	276					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CACGGAGGCGCTGAGCATGGC	0.458													T	42762585	C	T	42762585	2	4	236	1	0	0	0	0	0	0	0	1	9998	796	28	2		2	MX2	21	42762585	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	1729931	42762585	5367310	1064	120241											
MX1	4599	broad.mit.edu	37	chr21	42821193	42821193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaaggcactggaagagcCggctgtggatatgctacaca	12	9	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:42821193C>T	uc002yzh.2	+	16	2350	c.1403C>T	c.(1402-1404)CCG>CTG	p.P468L	MX1_uc002yzi.2_Missense_Mutation_p.P468L|MX1_uc010goq.2_Missense_Mutation_p.P468L	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	468					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTGGAAGAGCCGGCTGTGGAT	0.458													T	42821193	C	T	42821193	3	4	236	1	0	0	0	0	1	0	0	0	9997	652	23	1	1441	1	MX1	21	42821193	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	58608	42821193	5308702	1065	120242											
UMODL1	89766	broad.mit.edu	37	chr21	43519071	43519071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactacgtggtcctcaacGtcaccagtgacagttttcaa	9	11	3	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:43519071G>A	uc002zaf.1	+	7	967	c.967G>A	c.(967-969)GTC>ATC	p.V323I	UMODL1_uc002zad.1_Missense_Mutation_p.V251I|UMODL1_uc002zae.1_Missense_Mutation_p.V251I|UMODL1_uc002zag.1_Missense_Mutation_p.V323I|UMODL1_uc010gow.1_Missense_Mutation_p.V115I|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V68I	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	323	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						GGTCCTCAACGTCACCAGTGA	0.502													A	43519071	G	A	43519071	3	1	236	1	0	0	0	0	1	0	0	0	16977	1145	40	1	993	1	UMODL1	21	43519071	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	697878	43519071	4610824	1066	120243											
POFUT2	23275	broad.mit.edu	37	chr21	46697010	46697010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtctgctcctgaactcGtctcccacctcccgcaggtg	9	16	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:46697010G>A	uc002zhc.2	-	6	778	c.753C>T	c.(751-753)GAC>GAT	p.D251D	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.D251D	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	251					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		TCCTGAACTCGTCTCCCACCT	0.627													A	46697010	G	A	46697010	2	1	236	1	0	0	0	0	0	0	0	1	12184	1136	40	1		1	POFUT2	21	46697010	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3177939	46697010	1432885	1067	120244											
COL18A1	80781	broad.mit.edu	37	chr21	46925087	46925087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggggccagcccggcccaCctggacctcagggacccccc	12	21	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:46925087C>T	uc011afs.1	+	35	4165	c.4144C>T	c.(4144-4146)CCT>TCT	p.P1382S	COL18A1_uc002zhg.2_Missense_Mutation_p.P967S|COL18A1_uc002zhi.2_Missense_Mutation_p.P1147S|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1385	Triple-helical region 9 (COL9).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCCGGCCCACCTGGACCTCA	0.726													T	46925087	C	T	46925087	3	4	236	1	0	0	0	0	1	0	0	0	3675	507	18	4	4396	4	COL18A1	21	46925087	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	228077	46925087	1204808	1068	120245											
CECR1	51816	broad.mit.edu	37	chr22	17663531	17663531	+	Frame_Shift_Del	DEL	T	T	-													agacttctatggggatgtccTttttccaggagtaagtcctg							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:17663530_17663530CT>C	uc002zmk.1	-	6	1415	c.1203_1203AG>G	c.(1201-1203)aagfs	p.K401fs	CECR1_uc010gqu.1_Frame_Shift_Del_p.K401fs|CECR1_uc011agi.1_Frame_Shift_Del_p.K359fs|CECR1_uc002zmj.1_Frame_Shift_Del_p.K160fs	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	401					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.K401N(2)		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)				TGGGGATGTCCTTTTTCCAGG	0.483													-	17663531	T	-	17663531	7	5	236	1	0	1	0	1	0	0	0	0	3205	1609	56	0	345	0	CECR1	22	17663531	Frame_Shift_Del	DEL	T	TCGA-F1-6874-01A-11D-1882-08		17663531	33641035	1069	120246											
TUBA8	51807	broad.mit.edu	37	chr22	18604386	18604386	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatcaacgatgatgactcCttcaccacctttttcagcga	6	12	3	3			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:18604386C>A	uc002znv.1	+	2	217	c.144C>A	c.(142-144)TCC>TCA	p.S48S	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Silent_p.S72S|TUBA8_uc002znu.1_Silent_p.S48S	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	48					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						ATGATGACTCCTTCACCACCT	0.552													A	18604386	C	A	18604386	2	1	236	1	0	0	0	0	0	0	0	1	16747	668	24	5		5	TUBA8	22	18604386	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	940855	18604386	32700180	1070	120247											
DGCR2	9993	broad.mit.edu	37	chr22	19052470	19052470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgagagagccattcaggcGctggcaggtctgcgcggcat	17	11	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:19052470G>A	uc002zoq.1	-	4	687	c.439C>T	c.(439-441)CGC>TGC	p.R147C	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R103C	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	147	Extracellular (Potential).|C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					CCATTCAGGCGCTGGCAGGTC	0.642													A	19052470	G	A	19052470	3	1	236	1	0	0	0	0	1	0	0	0	4461	1087	38	1	1241	1	DGCR2	22	19052470	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	448084	19052470	32252096	1071	120248											
TBX1	6899	broad.mit.edu	37	chr22	19752515	19752515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcacagataccagccccGcttccacgtggtctatgtgg	10	14	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:19752515G>A	uc002zqb.2	+	6	848	c.719G>A	c.(718-720)CGC>CAC	p.R240H	TBX1_uc002zqa.1_Missense_Mutation_p.R240H|TBX1_uc002zqc.2_Missense_Mutation_p.R240H	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	240	T-box.				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			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TACCAGCCCCGCTTCCACGTG	0.547													A	19752515	G	A	19752515	3	1	236	1	0	0	0	0	1	0	0	0	15647	1087	38	1	737	1	TBX1	22	19752515	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	700045	19752515	31552051	1072	120249											
ARVCF	421	broad.mit.edu	37	chr22	19969123	19969123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgggccaccaccacgCagcaggaaatgccggtccag	12	16	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:19969123C>T	uc002zqz.2	-	5	778	c.507G>A	c.(505-507)CTG>CTA	p.L169L	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Silent_p.L169L	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	169					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CACCACCACGCAGCAGGAAAT	0.682													T	19969123	C	T	19969123	2	4	236	1	0	0	0	0	0	0	0	1	1003	697	25	2		2	ARVCF	22	19969123	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	216608	19969123	31335443	1073	120250											
KLHL22	84861	broad.mit.edu	37	chr22	20800825	20800825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgccgtgccaggcgcgccGcacaggcccatcagccagtg	13	17	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:20800825G>A	uc002zsl.1	-	6	1553	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	KLHL22_uc011ahr.1_Missense_Mutation_p.R339W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	482	Kelch 4.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			CAGGCGCGCCGCACAGGCCCA	0.602													A	20800825	G	A	20800825	3	1	236	1	0	0	0	0	1	0	0	0	8377	1086	38	1	468	1	KLHL22	22	20800825	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	831702	20800825	30503741	1074	120251											
HIC2	23119	broad.mit.edu	37	chr22	21799242	21799242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagggcgcggggacatgGggcccgacatggagctgccc	20	12	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:21799242G>T	uc002zur.3	+	3	288	c.58G>T	c.(58-60)GGG>TGG	p.G20W	HIC2_uc002zus.3_Missense_Mutation_p.G20W	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	20					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CGGGGACATGGGGCCCGACAT	0.647													T	21799242	G	T	21799242	3	4	236	1	0	0	0	0	1	0	0	0	7102	1232	43	5	64	5	HIC2	22	21799242	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	998417	21799242	29505324	1075	120252											
HIC2	23119	broad.mit.edu	37	chr22	21799520	21799520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagcgaccagccagcCgagcccaacttcagcaccct	8	20	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:21799520C>T	uc002zur.3	+	3	566	c.336C>T	c.(334-336)GCC>GCT	p.A112A	HIC2_uc002zus.3_Silent_p.A112A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACCAGCCAGCCGAGCCCAACT	0.617													T	21799520	C	T	21799520	2	4	236	1	0	0	0	0	0	0	0	1	7102	639	23	1		1	HIC2	22	21799520	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	278	21799520	29505046	1076	120253											
PPM1F	9647	broad.mit.edu	37	chr22	22280022	22280022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacccaatgcttcaatgCgcgccttctcatcctgcaga	7	16	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:22280022C>T	uc002zvp.1	-	7	1019	c.905G>A	c.(904-906)CGC>CAC	p.R302H	PPM1F_uc011aik.1_Missense_Mutation_p.R198H|PPM1F_uc002zvq.2_Missense_Mutation_p.R302H	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	302					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGCTTCAATGCGCGCCTTCTC	0.627													T	22280022	C	T	22280022	3	4	236	1	0	0	0	0	1	0	0	0	12339	768	27	1	467	1	PPM1F	22	22280022	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	480502	22280022	29024544	1077	120254											
BCR	613	broad.mit.edu	37	chr22	23523816	23523816	+	Frame_Shift_Del	DEL	G	G	-													cacggcgcgggctcgagcgtGggggatgcatccaggccccc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:23523816delG	uc002zww.2	+	1	1265	c.669delG	c.(667-669)GTGfs	p.V223fs	BCR_uc002zwx.2_Frame_Shift_Del_p.V223fs	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	223	Kinase.|Binding to ABL SH2-domain.				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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GCTCGAGCGTGGGGGATGCAT	0.667			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								-	23523816	G	-	23523816	7	5	236	1	0	1	0	1	0	0	0	0	1388	1335	47	0	671	0	BCR	22	23523816	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1243794	23523816	27780750	1078	120255											
PISD	23761	broad.mit.edu	37	chr22	32015604	32015604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaaagagactctagagCgagcccagggcttccccaaa	11	12	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:32015604C>T	uc003alm.3	-	8	1231	c.1224G>A	c.(1222-1224)TCG>TCA	p.S408S	PISD_uc003alk.2_Silent_p.S374S|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.S373S|PISD_uc003aln.3_Silent_p.S370S	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	408					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	GACTCTAGAGCGAGCCCAGGG	0.532													T	32015604	C	T	32015604	2	4	236	1	0	0	0	0	0	0	0	1	11946	755	27	1		1	PISD	22	32015604	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	8491788	32015604	19288962	1079	120256											
MYH9	4627	broad.mit.edu	37	chr22	36690176	36690176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggccagctctgtgcgcaCgcgctctccctcgttgaact	11	16	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:36690176C>T	uc003apg.2	-	28	4030	c.3799G>A	c.(3799-3801)GTG>ATG	p.V1267M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1267	Potential.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCTGTGCGCACGCGCTCTCCC	0.657			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36690176	C	T	36690176	3	4	236	1	0	0	0	0	1	0	0	0	10042	536	19	1	2139	1	MYH9	22	36690176	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	4674572	36690176	14614390	1080	120257											
TRIOBP	11078	broad.mit.edu	37	chr22	38119860	38119860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccccagaacatcctgcGcccagcgggacaatcccaga	8	17	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:38119860G>A	uc003atr.2	+	7	1568	c.1297G>A	c.(1297-1299)GCC>ACC	p.A433T	TRIOBP_uc003atu.2_Missense_Mutation_p.A261T|TRIOBP_uc003atq.1_Missense_Mutation_p.A433T|TRIOBP_uc003ats.1_Missense_Mutation_p.A261T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	433					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)	1	Melanoma(58;0.0574)					AACATCCTGCGCCCAGCGGGA	0.582													A	38119860	G	A	38119860	3	1	236	1	0	0	0	0	1	0	0	0	16550	1087	38	1	1315	1	TRIOBP	22	38119860	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1429684	38119860	13184706	1081	120258											
DDX17	10521	broad.mit.edu	37	chr22	38882439	38882439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggtccggtaacgagaaCgaccacctaatgggaagata	12	8	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:38882439C>T	uc003avy.3	-	13	1800	c.1697G>A	c.(1696-1698)CGT>CAT	p.R566H	DDX17_uc003avw.3_Missense_Mutation_p.R18H|DDX17_uc010gxp.2_Missense_Mutation_p.R16H|DDX17_uc003avx.3_Missense_Mutation_p.R564H	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	485					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					GTAACGAGAACGACCACCTAA	0.423													T	38882439	C	T	38882439	3	4	236	1	0	0	0	0	1	0	0	0	4344	536	19	1	502	1	DDX17	22	38882439	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	762579	38882439	12422127	1082	120259											
TAB1	10454	broad.mit.edu	37	chr22	39826100	39826100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgacggaggcctcttccGctcccggcccgcccactcgc	10	21	2	1	rs151213024	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:39826100G>A	uc003axt.2	+	11	1437	c.1388G>A	c.(1387-1389)CGC>CAC	p.R463H	TAB1_uc003axr.2_Missense_Mutation_p.R539H|TAB1_uc011aok.1_Missense_Mutation_p.R297H|TAB1_uc003axu.1_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	463					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)	1						GGCCTCTTCCGCTCCCGGCCC	0.647													A	39826100	G	A	39826100	3	1	236	1	0	0	0	0	1	0	0	0	15492	1087	38	1	1430	1	TAB1	22	39826100	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	943661	39826100	11478466	1083	120260											
PPPDE2	27351	broad.mit.edu	37	chr22	41999312	41999312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaagaaggaatcttccGcccagtcaggaactgtgcca	11	10	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:41999312G>A	uc003ban.1	-	5	437	c.364C>T	c.(364-366)CGG>TGG	p.R122W	PPPDE2_uc011apb.1_RNA	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN	PPPDE peptidase domain containing 2	122	PPPDE peptidase.										0						GGAATCTTCCGCCCAGTCAGG	0.502													A	41999312	G	A	41999312	3	1	236	1	0	0	0	0	1	0	0	0	12409	1086	38	1	150	1	PPPDE2	22	41999312	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	2173212	41999312	9305254	1084	120261											
CYP2D6	1565	broad.mit.edu	37	chr22	42523547	42523547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgcacctcatgaatcaCggcagtggtgtagggcatgt	14	10	2	1	rs79489631		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:42523547C>T	uc003bce.2	-	7	1165	c.1075G>A	c.(1075-1077)GTG>ATG	p.V359M	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.V53M|CYP2D6_uc003bcf.2_Missense_Mutation_p.V308M	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	359							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			breast(1)|skin(1)	2						TCATGAATCACGGCAGTGGTG	0.592													T	42523547	C	T	42523547	3	4	236	1	0	0	0	0	1	0	0	0	4169	536	19	1	430	1	CYP2D6	22	42523547	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	524235	42523547	8781019	1085	120262											
TCF20	6942	broad.mit.edu	37	chr22	42608372	42608372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgggtctgctgtcttgCgggccatagtctgaaaggga	17	8	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:42608372C>T	uc003bcj.1	-	1	3074	c.2940G>A	c.(2938-2940)CCG>CCA	p.P980P	TCF20_uc003bck.1_Silent_p.P980P|TCF20_uc003bnt.2_Silent_p.P980P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	980					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						TGCTGTCTTGCGGGCCATAGT	0.592													T	42608372	C	T	42608372	2	4	236	1	0	0	0	0	0	0	0	1	15687	755	27	1		1	TCF20	22	42608372	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	84825	42608372	8696194	1086	120263											
FBLN1	2192	broad.mit.edu	37	chr22	45939288	45939288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcactttcagatgtcaaCgagtgccagcgctaccccgg	9	16	3	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:45939288C>T	uc003bgj.1	+	11	1350	c.1203C>T	c.(1201-1203)AAC>AAT	p.N401N	FBLN1_uc003bgg.1_Silent_p.N401N|FBLN1_uc003bgh.2_Silent_p.N401N|FBLN1_uc010gzz.2_Silent_p.N439N|FBLN1_uc003bgi.1_Silent_p.N401N	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	401	EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGATGTCAACGAGTGCCAGC	0.612													T	45939288	C	T	45939288	2	4	236	1	0	0	0	0	0	0	0	1	5698	535	19	1		1	FBLN1	22	45939288	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	3330916	45939288	5365278	1087	120264											
PKDREJ	10343	broad.mit.edu	37	chr22	46653549	46653549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtgtggaattaaaccGctgctgttctggaaaaaaat	9	8	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:46653549G>A	uc003bhh.2	-	1	5671	c.5671C>T	c.(5671-5673)CGG>TGG	p.R1891W		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1891	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAATTAAACCGCTGCTGTTCT	0.403													A	46653549	G	A	46653549	3	1	236	1	0	0	0	0	1	0	0	0	11970	1086	38	1	1094	1	PKDREJ	22	46653549	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	714261	46653549	4651017	1088	120265											
CELSR1	9620	broad.mit.edu	37	chr22	46929555	46929555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccatgagcgcctccagCggccggttgttgtccaggtc	12	15	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:46929555C>T	uc003bhw.1	-	1	3513	c.3513G>A	c.(3511-3513)CCG>CCA	p.P1171P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1171	Extracellular (Potential).|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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		GCGCCTCCAGCGGCCGGTTGT	0.657													T	46929555	C	T	46929555	2	4	236	1	0	0	0	0	0	0	0	1	3221	755	27	1		1	CELSR1	22	46929555	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	276006	46929555	4375011	1089	120266											
GRAMD4	23151	broad.mit.edu	37	chr22	47054103	47054103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggagctccggaagctGcgagaagaaaccaacgcgga	16	9	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:47054103G>A	uc003bhx.2	+	3	342	c.303G>A	c.(301-303)CTG>CTA	p.L101L	GRAMD4_uc010had.2_Silent_p.L40L	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	101	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		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)		TCCGGAAGCTGCGAGAAGAAA	0.662													A	47054103	G	A	47054103	2	1	236	1	0	0	0	0	0	0	0	1	6752	1306	46	2		2	GRAMD4	22	47054103	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	124548	47054103	4250463	1090	120267											
ZBED4	9889	broad.mit.edu	37	chr22	50279692	50279692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtgctggtgggaagcGtgggtgacctccaccggcct	17	11	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:50279692G>A	uc003bix.2	+	2	2852	c.2382G>A	c.(2380-2382)GCG>GCA	p.A794A		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	794						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		GGTGGGAAGCGTGGGTGACCT	0.632													A	50279692	G	A	50279692	2	1	236	1	0	0	0	0	0	0	0	1	17517	1132	40	1		1	ZBED4	22	50279692	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3225589	50279692	1024874	1091	120268											
PANX2	56666	broad.mit.edu	37	chr22	50615930	50615930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctgcgcgctgggcgcGtccccggacggggcggcagg	18	15	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:50615930G>A	uc003bjn.3	+	2	789	c.789G>A	c.(787-789)GCG>GCA	p.A263A	PANX2_uc003bjp.3_Silent_p.A129A|PANX2_uc003bjo.3_Silent_p.A263A	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	263	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGCTGGGCGCGTCCCCGGACG	0.697													A	50615930	G	A	50615930	2	1	236	1	0	0	0	0	0	0	0	1	11421	1132	40	1		1	PANX2	22	50615930	Silent	SNP	G	TCGA-F1-6874-01A-11D-1882-08	336238	50615930	688636	1092	120269											
MIOX	55586	broad.mit.edu	37	chr22	50925873	50925873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggtggccaaagacaaGgccagcttccggaactacac	11	13	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:50925873G>T	uc003bll.1	+	2	189	c.75G>T	c.(73-75)AAG>AAT	p.K25N	MIOX_uc003blm.1_Missense_Mutation_p.K25N|MIOX_uc003bln.1_Missense_Mutation_p.K25N	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	25					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		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)		CCAAAGACAAGGCCAGCTTCC	0.592													T	50925873	G	T	50925873	3	4	236	1	0	0	0	0	1	0	0	0	9590	991	35	5	81	5	MIOX	22	50925873	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	309943	50925873	378693	1093	120270											
P2RY8	286530	broad.mit.edu	37	chrX	1584732	1584732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaggccagcaagaccacCgcggccaggcccaccgcgcg	12	18	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:1584732C>T	uc004cpz.2	-	2	968	c.720G>A	c.(718-720)GCG>GCA	p.A240A		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	240	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		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)				GCAAGACCACCGCGGCCAGGC	0.657			T	CRLF2	B-ALL|Downs associated ALL								T	1584732	C	T	1584732	2	4	236	1	0	0	0	0	0	0	0	1	11355	639	23	1		1	P2RY8	23	1584732	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08		1584732	153685828	1094	120271											
ZBED1	9189	broad.mit.edu	37	chrX	2408192	2408192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgccacaccaggtggccTcggccagctccttcaggatc	11	15	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:2408192T>C	uc004cqg.2	-	2	770	c.569A>G	c.(568-570)GAG>GGG	p.E190G	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E190G	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	190						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				CCAGGTGGCCTCGGCCAGCTC	0.657													C	2408192	T	C	2408192	3	2	236	1	0	0	0	0	1	0	0	0	17514	1551	54	3	1519	3	ZBED1	23	2408192	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	823460	2408192	152862368	1095	120272											
WWC3	55841	broad.mit.edu	37	chrX	10096130	10096130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgaaccatcaaggacgCgggaggctgggtgtgcagga	17	9	2	1	rs138880852		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:10096130C>T	uc004csx.3	+	16	2407	c.2209C>T	c.(2209-2211)CGG>TGG	p.R737W	WWC3_uc010nds.2_Missense_Mutation_p.R401W|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	737										ovary(4)	4						ATCAAGGACGCGGGAGGCTGG	0.582													T	10096130	C	T	10096130	3	4	236	1	0	0	0	0	1	0	0	0	17410	759	27	1	2267	1	WWC3	23	10096130	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	7687938	10096130	145174430	1096	120273											
CLCN4	1183	broad.mit.edu	37	chrX	10182015	10182015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgtcgaggacgtggagaCgctcatcaaggagaccgact	14	10	2	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:10182015C>T	uc004csy.3	+	11	2301	c.1871C>T	c.(1870-1872)ACG>ATG	p.T624M	CLCN4_uc011mid.1_Missense_Mutation_p.T530M	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	624	CBS 1.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACGTGGAGACGCTCATCAAG	0.632													T	10182015	C	T	10182015	3	4	236	1	0	0	0	0	1	0	0	0	3465	536	19	1	1905	1	CLCN4	23	10182015	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	85885	10182015	145088545	1097	120274											
MSL3	10943	broad.mit.edu	37	chrX	11790306	11790307	+	Frame_Shift_Ins	INS	-	-	C													aagcttgtgcctgacaattaINSccccccaggtgaccagccgc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:11790306_11790307insC	uc004cuw.2	+	11	1418_1419	c.1313_1314insC	c.(1312-1314)TACfs	p.Y438fs	MSL3_uc004cux.2_Frame_Shift_Ins_p.Y379fs|MSL3_uc011mig.1_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.1_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.2_Frame_Shift_Ins_p.Y272fs	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	438					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			ovary(1)	1						CCTGACAATTACCCCCCAGGTG	0.455													C	11790307	-	C	11790306	7	5	236	1	0	1	1	0	0	0	0	0	9879	391	14	0	1435	0	MSL3	23	11790306	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1608291	11790306	143480254	1098	120275	616	2									
MSL3	10943	broad.mit.edu	37	chrX	11790307	11790308	+	Frame_Shift_Ins	INS	-	-	C													agcttgtgcctgacaattacINScccccaggtgaccagccgcc							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:11790306_11790307A>AC	uc004cuw.3	+	10	1418_1419	c.1313_1314A>AC	c.(1312-1314)tacfs	p.Y438fs	MSL3_uc011mig.2_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.2_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.3_Frame_Shift_Ins_p.Y272fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	438					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						CCTGACAATTACCCCCCAGGTG	0.455													C	11790308	-	C	11790307	7	5	236	1	0	1	1	0	0	0	0	0	9879	518	18	0	1436	0	MSL3	23	11790307	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	11790307	143480253	1099	120276	616	2									
ACE2	59272	broad.mit.edu	37	chrX	15589815	15589815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagccaggtaaataagGgctcaaagtagttgagcagt	11	7	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:15589815G>A	uc004cxa.1	-	13	1937	c.1769C>T	c.(1768-1770)CCC>CTC	p.P590L	ACE2_uc004cxb.2_Missense_Mutation_p.P590L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	590	Extracellular (Potential).				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			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	GGTAAATAAGGGCTCAAAGTA	0.458													A	15589815	G	A	15589815	3	1	236	1	0	0	0	0	1	0	0	0	137	1232	43	4	672	4	ACE2	23	15589815	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	3799508	15589815	139680745	1100	120277											
YY2	404281	broad.mit.edu	37	chrX	21874825	21874825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacgggctatggcgaccacGaccaggaaatgcttatgttg	12	10	0	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:21874825G>A	uc011mjp.1	+	1	223	c.223G>A	c.(223-225)GAC>AAC	p.D75N	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.D293N|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	75	Mediates transcriptional activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TGGCGACCACGACCAGGAAAT	0.557													A	21874825	G	A	21874825	3	1	236	1	0	0	0	0	1	0	0	0	17506	1058	37	1	225	1	YY2	23	21874825	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	6285010	21874825	133395735	1101	120278											
SYTL5	94122	broad.mit.edu	37	chrX	37984696	37984696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctagaacttactatcTgggacaaggaggccttttcc	9	10	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:37984696T>C	uc004ddu.2	+	17	2521	c.1987T>C	c.(1987-1989)TGG>CGG	p.W663R	SYTL5_uc004ddv.2_Missense_Mutation_p.W663R|SYTL5_uc004ddx.2_Missense_Mutation_p.W685R	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	663	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						ACTTACTATCTGGGACAAGGA	0.453													C	37984696	T	C	37984696	3	2	236	1	0	0	0	0	1	0	0	0	15483	1580	55	3	2115	3	SYTL5	23	37984696	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	16109871	37984696	117285864	1102	120279											
FGD1	2245	broad.mit.edu	37	chrX	54472656	54472656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgggccccgggcagaaCgtgtcccctcggcccgcccg	15	17	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:54472656C>T	uc004dtg.2	-	18	3506	c.2772G>A	c.(2770-2772)ACG>ACA	p.T924T		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	924					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			ovary(3)|skin(2)|central_nervous_system(1)	6						CCGGGCAGAACGTGTCCCCTC	0.652													T	54472656	C	T	54472656	2	4	236	1	0	0	0	0	0	0	0	1	5832	523	19	1		1	FGD1	23	54472656	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	16487960	54472656	100797904	1103	120280											
FAM46D	169966	broad.mit.edu	37	chrX	79698294	79698295	+	Frame_Shift_Ins	INS	-	-	T													ctataaggatctggacgttaINStttttggtgttgagcttcca							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:79698294_79698295insT	uc004edl.1	+	5	590_591	c.256_257insT	c.(256-258)ATTfs	p.I86fs	FAM46D_uc004edm.1_Frame_Shift_Ins_p.I86fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	86										lung(2)	2						TCTGGACGTTATTTTTGGTGTT	0.381													T	79698295	-	T	79698294	7	5	236	1	0	1	1	0	0	0	0	0	5568	449	16	0	258	0	FAM46D	23	79698294	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	25225638	79698294	75572266	1104	120281	617	2									
FAM46D	169966	broad.mit.edu	37	chrX	79698295	79698296	+	Frame_Shift_Ins	INS	-	-	T													tataaggatctggacgttatINSttttggtgttgagcttccag							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:79698294_79698295A>AT	uc022bzm.1	+	0	256_257	c.256_257A>AT	c.(256-258)attfs	p.I86fs	FAM46D_uc004edl.1_Frame_Shift_Ins_p.I86fs|FAM46D_uc004edm.2_Frame_Shift_Ins_p.I86fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	86								p.I86I(1)|p.V85I(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCTGGACGTTATTTTTGGTGTT	0.381													T	79698296	-	T	79698295	7	5	236	1	0	1	1	0	0	0	0	0	5568	1493	52	0	259	0	FAM46D	23	79698295	Frame_Shift_Ins	INS	-	TCGA-F1-6874-01A-11D-1882-08	1	79698295	75572265	1105	120282	617	2									
PCDH19	57526	broad.mit.edu	37	chrX	99657662	99657662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtgctctcagagcggcGgcagcccaggggcagcgtct	16	12	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:99657662G>A	uc010nmz.2	-	3	4152	c.2476C>T	c.(2476-2478)CGC>TGC	p.R826C	PCDH19_uc004efw.3_Missense_Mutation_p.R779C|PCDH19_uc004efx.3_Missense_Mutation_p.R779C	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	826	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TCAGAGCGGCGGCAGCCCAGG	0.547													A	99657662	G	A	99657662	3	1	236	1	0	0	0	0	1	0	0	0	11514	1116	39	1	986	1	PCDH19	23	99657662	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	19959367	99657662	55612898	1106	120283											
MUM1L1	139221	broad.mit.edu	37	chrX	105450793	105450793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaacaaatgctagtggaCaaagccagggaggattatag	13	5	0	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:105450793C>T	uc004emf.1	+	4	2017	c.1368C>T	c.(1366-1368)GAC>GAT	p.D456D	MUM1L1_uc004emg.1_Silent_p.D456D	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	456										ovary(2)|pancreas(1)|skin(1)	4						TGCTAGTGGACAAAGCCAGGG	0.363													T	105450793	C	T	105450793	2	4	236	1	0	0	0	0	0	0	0	1	9986	477	17	4		4	MUM1L1	23	105450793	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	5793131	105450793	49819767	1107	120284											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698712	111698712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccacagatccaccaccCaagaaagggcctatacagct	7	16	0	2			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:111698712C>T	uc004epo.1	+	3	1197	c.756C>T	c.(754-756)CCC>CCT	p.P252P		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	252							nucleic acid binding|zinc ion binding			ovary(1)	1						ATCCACCACCCAAGAAAGGGC	0.562													T	111698712	C	T	111698712	2	4	236	1	0	0	0	0	0	0	0	1	17581	581	21	4		4	ZCCHC16	23	111698712	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	6247919	111698712	43571848	1108	120285											
HTR2C	3358	broad.mit.edu	37	chrX	113965833	113965833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacggggtacaaaactggCcagcactttcaatcgtcatc	9	12	2	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:113965833C>T	uc004epu.1	+	4	894	c.166C>T	c.(166-168)CCA>TCA	p.P56S	HTR2C_uc010nqc.1_Missense_Mutation_p.P56S|HTR2C_uc004epv.1_Missense_Mutation_p.P56S	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	56	Helical; Name=1; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACAAAACTGGCCAGCACTTTC	0.433													T	113965833	C	T	113965833	3	4	236	1	0	0	0	0	1	0	0	0	7443	739	26	2	172	2	HTR2C	23	113965833	Missense_Mutation	SNP	C	TCGA-F1-6874-01A-11D-1882-08	2267121	113965833	41304727	1109	120286											
BCORL1	63035	broad.mit.edu	37	chrX	129189948	129189948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaaggccgagttctacaGgcaggtggcctccagtcagc	13	14	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:129189948G>T	uc004evb.1	+	13	5087	c.4973G>T	c.(4972-4974)AGG>ATG	p.R1658M	BCORL1_uc004evc.1_Missense_Mutation_p.R494M	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GAGTTCTACAGGCAGGTGGCC	0.602													T	129189948	G	T	129189948	3	4	236	1	0	0	0	0	1	0	0	0	1387	1000	35	5	5245	5	BCORL1	23	129189948	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	15224115	129189948	26080612	1110	120287											
MAMLD1	10046	broad.mit.edu	37	chrX	149639606	149639606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcagccactgcctcCtccacggccactgccacctt	6	22	1	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:149639606C>A	uc004fee.1	+	3	1837	c.1761C>A	c.(1759-1761)TCC>TCA	p.S587S	MAMLD1_uc011mxt.1_Silent_p.S549S|MAMLD1_uc011mxu.1_Silent_p.S562S|MAMLD1_uc011mxv.1_Silent_p.S562S|MAMLD1_uc011mxw.1_Silent_p.S514S	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	587					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCCTCCTCCACGGCCA	0.488													A	149639606	C	A	149639606	2	1	236	1	0	0	0	0	0	0	0	1	9208	668	24	5		5	MAMLD1	23	149639606	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	20449658	149639606	5630954	1111	120288											
GABRE	2564	broad.mit.edu	37	chrX	151128320	151128320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgcttaccaactggggTtgtgattatttcagttttgt	11	7	1	1			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:151128320T>C	uc004ffi.2	-	6	829	c.775A>G	c.(775-777)ACC>GCC	p.T259A	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	259	Helical; (Potential).				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			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CCAACTGGGGTTGTGATTATT	0.463													C	151128320	T	C	151128320	3	2	236	1	0	0	0	0	1	0	0	0	6170	1725	60	3	761	3	GABRE	23	151128320	Missense_Mutation	SNP	T	TCGA-F1-6874-01A-11D-1882-08	1488714	151128320	4142240	1112	120289											
PNMA3	29944	broad.mit.edu	37	chrX	152225667	152225667	+	Frame_Shift_Del	DEL	G	G	-													ccaagggaaataccaggaaaGggggggccctgggaagtgat							TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:152225666_152225666AG>A	uc022cho.1	+	0	254	c.254_254AG>A	c.(253-255)aagfs	p.K85fs	PNMA3_uc004fhc.2_Frame_Shift_Del_p.K85fs|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	85					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)					ataccaggaaagggggggccc	0.527													-	152225667	G	-	152225667	7	5	236	1	0	1	0	1	0	0	0	0	12155	991	35	0	257	0	PNMA3	23	152225667	Frame_Shift_Del	DEL	G	TCGA-F1-6874-01A-11D-1882-08	1097347	152225667	3044893	1113	120290											
IRAK1	3654	broad.mit.edu	37	chrX	153278091	153278091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgataatctgcggtgGctctgacgacgatgatgcag	14	7	2	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:153278091G>A	uc004fjs.1	-	13	2048	c.1969C>T	c.(1969-1971)CCA>TCA	p.P657S	IRAK1_uc004fjr.1_Missense_Mutation_p.P627S|IRAK1_uc004fjt.1_Missense_Mutation_p.P578S|IRAK1_uc010nur.2_Intron	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	657					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 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			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	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)					ATCTGCGGTGGCTCTGACGAC	0.627													A	153278091	G	A	153278091	3	1	236	1	0	0	0	0	1	0	0	0	7821	1203	42	2	177	2	IRAK1	23	153278091	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	1052424	153278091	1992469	1114	120291											
ATP6AP1	537	broad.mit.edu	37	chrX	153663736	153663736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcttcccaggtcacagGgcccagcatctactccttcc	7	17	2	0			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:153663736G>A	uc004flf.1	+	9	1149	c.1088G>A	c.(1087-1089)GGG>GAG	p.G363E	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.G323E|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	363					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			ovary(3)|breast(1)	4	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)					CAGGTCACAGGGCCCAGCATC	0.607													A	153663736	G	A	153663736	3	1	236	1	0	0	0	0	1	0	0	0	1165	1232	43	4	1122	4	ATP6AP1	23	153663736	Missense_Mutation	SNP	G	TCGA-F1-6874-01A-11D-1882-08	385645	153663736	1606824	1115	120292											
DKC1	1736	broad.mit.edu	37	chrX	153995617	153995617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgagtgaggaccatctaCgagagcaaaatgattgaata	10	8	1	4			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:153995617C>T	uc004fmm.2	+	7	810	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y	DKC1_uc010nvf.2_Silent_p.Y200Y|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	200					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	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)					GGACCATCTACGAGAGCAAAA	0.453									Congenital_Dyskeratosis				T	153995617	C	T	153995617	2	4	236	1	0	0	0	0	0	0	0	1	4542	547	19	1		1	DKC1	23	153995617	Silent	SNP	C	TCGA-F1-6874-01A-11D-1882-08	331881	153995617	1274943	1116	120293											
ATAD3C	219293	broad.mit.edu	37	chr1	1403804	1403804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggggtcctgaccgaggCcatgatggacgcctgcgtgc	17	12	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:1403804C>T	uc001aft.2	+	12	2125	c.1130C>T	c.(1129-1131)GCC>GTC	p.A377V		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	377							ATP binding|nucleoside-triphosphatase activity				0	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)		CTGACCGAGGCCATGATGGAC	0.657													T	1403804	C	T	1403804	3	4	237	1	0	0	0	0	1	0	0	0	1075	739	26	2	1176	2	ATAD3C	1	1403804	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08		1403804	247846817	1	120294											
CHD5	26038	broad.mit.edu	37	chr1	6184073	6184073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcactggtgtgttggggtccGaggagatcacctcgcccgac	15	12	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:6184073G>A	uc001amb.1	-	31	4734	c.4634C>T	c.(4633-4635)TCG>TTG	p.S1545L	CHD5_uc001alz.1_Missense_Mutation_p.S402L|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		GTTGGGGTCCGAGGAGATCAC	0.667													A	6184073	G	A	6184073	3	1	237	1	0	0	0	0	1	0	0	0	3328	1059	37	1	1274	1	CHD5	1	6184073	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	4780269	6184073	243066548	2	120295											
CLCNKB	1188	broad.mit.edu	37	chr1	16374443	16374443	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accatgttggcgggtgtggtCttggaggactacctggatat	15	7	1	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:16374443C>T	uc001axw.3	+	5	482	c.402C>T	c.(400-402)GTC>GTT	p.V134V	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.V134V|CLCNKB_uc001axy.3_5'Flank	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	134					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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)		CGGGTGTGGTCTTGGAGGACT	0.577													T	16374443	C	T	16374443	2	4	237	1	0	0	0	0	0	0	0	1	3470	900	32	4		4	CLCNKB	1	16374443	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08	10190370	16374443	232876178	3	120296											
EPHA8	2046	broad.mit.edu	37	chr1	22913046	22913046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctccccacagccactcCgcagctccagccgcccaagc	7	23	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:22913046C>T	uc001bfx.1	+	4	1022	c.897C>T	c.(895-897)TCC>TCT	p.S299S	EPHA8_uc001bfw.2_Silent_p.S299S	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	299	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		ACAGCCACTCCGCAGCTCCAG	0.667													T	22913046	C	T	22913046	2	4	237	1	0	0	0	0	0	0	0	1	5173	639	23	1		1	EPHA8	1	22913046	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08	6538603	22913046	226337575	4	120297											
ZMYND12	84217	broad.mit.edu	37	chr1	42921644	42921644	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgcgccccttggggaCtgccagtgggtagatcacat	14	11	2	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:42921644C>G	uc001chj.2	-	1	295	c.25G>C	c.(25-27)GTC>CTC	p.V9L	ZMYND12_uc010ojt.1_5'UTR|PPCS_uc001chk.2_5'Flank|PPCS_uc001chl.2_5'Flank	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12 isoform 1	9						intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTTGGGGACTGCCAGTGGG	0.612													G	42921644	C	G	42921644	3	3	237	1	0	0	0	0	1	0	0	0	17704	565	20	5	1104	5	ZMYND12	1	42921644	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	20008598	42921644	206328977	5	120298											
GPATCH4	54865	broad.mit.edu	37	chr1	156566248	156566248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtctttgtttggcttctctCcacctgaagtcaatgtagcc	8	11	3	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:156566248C>T	uc001fpm.2	-	6	410	c.371G>A	c.(370-372)GGA>GAA	p.G124E	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.G119E	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	119						intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCTTCTCTCCACCTGAAGT	0.502													T	156566248	C	T	156566248	3	4	237	1	0	0	0	0	1	0	0	0	6593	855	30	4	768	4	GPATCH4	1	156566248	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	113644604	156566248	92684373	6	120299											
OR6K2	81448	broad.mit.edu	37	chr1	158670349	158670349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgaaagcatagatgaagaGcagtggaacaaagcagacaa	11	5	0	5			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:158670349G>T	uc001fsu.1	-	1	94	c.94C>A	c.(94-96)CTC>ATC	p.L32I		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TAGATGAAGAGCAGTGGAACA	0.453													T	158670349	G	T	158670349	3	4	237	1	0	0	0	0	1	0	0	0	11202	971	34	5	884	5	OR6K2	1	158670349	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	2104101	158670349	90580272	7	120300											
MNDA	4332	broad.mit.edu	37	chr1	158819008	158819008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggccaagaaaaacaaggaagGaccaatgaatgttaattgaa	10	5	0	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:158819008G>T	uc001fsz.1	+	7	1405	c.1205G>T	c.(1204-1206)GGA>GTA	p.G402V		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	402					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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AACAAGGAAGGACCAATGAAT	0.318													T	158819008	G	T	158819008	3	4	237	1	0	0	0	0	1	0	0	0	9676	1174	41	5	1227	5	MNDA	1	158819008	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	148659	158819008	90431613	8	120301											
DDR2	4921	broad.mit.edu	37	chr1	162724593	162724593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccatgtacaagatcaattAcagtcgggatggcactcgct	9	12	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr1:162724593A>G	uc001gcf.2	+	6	830	c.365A>G	c.(364-366)TAC>TGC	p.Y122C	DDR2_uc001gcg.2_Missense_Mutation_p.Y122C	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	122	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AAGATCAATTACAGTCGGGAT	0.522													G	162724593	A	G	162724593	3	3	237	1	0	0	0	0	1	0	0	0	4337	391	14	3	375	3	DDR2	1	162724593	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08	3905585	162724593	86526028	9	120302											
MXD1	4084	broad.mit.edu	37	chr2	70165237	70165237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctccctgcagaagaaatcGacgttgacgtggagagcacg	12	11	0	4			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:70165237G>A	uc002sfy.2	+	6	747	c.487G>A	c.(487-489)GAC>AAC	p.D163N	MXD1_uc010yqp.1_Missense_Mutation_p.D162N|MXD1_uc010yqq.1_Missense_Mutation_p.D100N|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Missense_Mutation_p.D153N	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	163					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						AGAAGAAATCGACGTTGACGT	0.453													A	70165237	G	A	70165237	3	1	237	1	0	0	0	0	1	0	0	0	9999	1058	37	1	509	1	MXD1	2	70165237	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08		70165237	173034136	10	120303											
ADD2	119	broad.mit.edu	37	chr2	70910804	70910804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggcccaaaggtgctcccGgcccactgcacggagcccac	11	17	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:70910804G>A	uc002sgz.2	-	10	1509	c.1044C>T	c.(1042-1044)GCC>GCT	p.A348A	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.A348A|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Silent_p.A348A|ADD2_uc010fdt.1_Silent_p.A348A|ADD2_uc002shc.1_Silent_p.A348A|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Silent_p.A364A	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	348					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			ovary(2)|pancreas(1)	3						AGGTGCTCCCGGCCCACTGCA	0.627													A	70910804	G	A	70910804	2	1	237	1	0	0	0	0	0	0	0	1	305	1103	39	1		1	ADD2	2	70910804	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08	745567	70910804	172288569	11	120304											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105890146	105890146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaacctgaactccgAcctgaaagaggagcgacaat	11	9	0	4			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:105890146A>G	uc002tcq.2	-	9	1751	c.1667T>C	c.(1666-1668)GTC>GCC	p.V556A	TGFBRAP1_uc010fjc.2_Intron|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.V556A	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	556					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)|skin(1)	2						CTGAACTCCGACCTGAAAGAG	0.398													G	105890146	A	G	105890146	3	3	237	1	0	0	0	0	1	0	0	0	15821	289	10	3	931	3	TGFBRAP1	2	105890146	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08	34979342	105890146	137309227	12	120305											
IL1F6	27179	broad.mit.edu	37	chr2	113763626	113763626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggttcttcaggaccagaCgctcatagcagtcccgagga	13	11	3	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:113763626C>T	uc010yxr.1	+	2	86	c.86C>T	c.(85-87)ACG>ATG	p.T29M		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	interleukin 1 family, member 6 (epsilon)	29					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding				0						CAGGACCAGACGCTCATAGCA	0.498													T	113763626	C	T	113763626	3	4	237	1	0	0	0	0	1	0	0	0	7654	536	19	1	92	1	IL1F6	2	113763626	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	7873480	113763626	129435747	13	120306											
LYPD1	116372	broad.mit.edu	37	chr2	133403681	133403681	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggtgcggagccctggcctGagggccgaggcagaacttcc	17	12	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:133403681G>A	uc002ttn.2	-	3	1339	c.363C>T	c.(361-363)CTC>CTT	p.L121L	GPR39_uc002ttl.2_3'UTR|LYPD1_uc002ttm.3_Silent_p.L137L|LYPD1_uc002tto.2_Silent_p.L69L	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1 isoform a	121						anchored to membrane|plasma membrane					0						GCCCTGGCCTGAGGGCCGAGG	0.572													A	133403681	G	A	133403681	2	1	237	1	0	0	0	0	0	0	0	1	9109	1277	45	4		4	LYPD1	2	133403681	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08	19640055	133403681	109795692	14	120307											
XRCC5	7520	broad.mit.edu	37	chr2	216997075	216997075	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagattcttcatgggaaatCaagttctaaaggtctttgca	9	6	5	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:216997075C>T	uc002vfy.2	+	10	1218	c.1078C>T	c.(1078-1080)CAA>TAA	p.Q360*	XRCC5_uc002vfz.2_Nonsense_Mutation_p.Q246*	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	360	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CATGGGAAATCAAGTTCTAAA	0.383								Direct_reversal_of_damage|NHEJ					T	216997075	C	T	216997075	4	4	237	1	0	0	0	0	0	1	0	0	17453	827	29	4	1116	4	XRCC5	2	216997075	Nonsense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	83593394	216997075	26202298	15	120308											
CXCR2	3579	broad.mit.edu	37	chr2	218999946	218999946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctactggcctgcatcaGtgtggaccgttacctggcca	11	14	1	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:218999946G>A	uc002vgz.1	+	4	647	c.422G>A	c.(421-423)AGT>AAT	p.S141N	CXCR2_uc002vha.1_Missense_Mutation_p.S141N|CXCR2_uc002vhb.1_Missense_Mutation_p.S141N	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	141	Helical; Name=3; (Potential).				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			lung(1)|breast(1)	2						GCCTGCATCAGTGTGGACCGT	0.512													A	218999946	G	A	218999946	3	1	237	1	0	0	0	0	1	0	0	0	4091	1029	36	4	424	4	CXCR2	2	218999946	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	2002871	218999946	24199427	16	120309											
SP140	11262	broad.mit.edu	37	chr2	231152636	231152636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaaacctggaacccgcTtcactcagagtgacagagct	11	12	2	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr2:231152636T>C	uc002vql.2	+	18	1790	c.1675T>C	c.(1675-1677)TTC>CTC	p.F559L	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.F445L|SP140_uc002vqm.2_Missense_Mutation_p.F499L|SP140_uc010fxl.2_Missense_Mutation_p.F532L	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	559					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		TGGAACCCGCTTCACTCAGAG	0.378													C	231152636	T	C	231152636	3	2	237	1	0	0	0	0	1	0	0	0	14962	1609	56	3	1862	3	SP140	2	231152636	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08	12152690	231152636	12046737	17	120310											
CAMK1	8536	broad.mit.edu	37	chr3	9804598	9804598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacccccttgagccccacCttgagatcccggtgtacaat	7	17	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:9804598C>T	uc003bst.2	-	5	607	c.429G>A	c.(427-429)AAG>AAA	p.K143K	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	143	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			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TGAGCCCCACCTTGAGATCCC	0.488													T	9804598	C	T	9804598	2	4	237	1	0	0	0	0	0	0	0	1	2596	695	24	4		4	CAMK1	3	9804598	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08		9804598	188217832	18	120311											
STT3B	201595	broad.mit.edu	37	chr3	31661247	31661247	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggtgtctttcttctttgatCtacatattcttgtatgtacc	7	8	5	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:31661247C>T	uc011axe.1	+	9	1252	c.1252C>T	c.(1252-1254)CTA>TTA	p.L418L	STT3B_uc010hft.1_Intron|STT3B_uc003cer.1_Silent_p.L418L|STT3B_uc003cet.2_Silent_p.L169L	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	418	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						CTTCTTTGATCTACATATTCT	0.348													T	31661247	C	T	31661247	2	4	237	1	0	0	0	0	0	0	0	1	15333	912	32	4		4	STT3B	3	31661247	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08	21856649	31661247	166361183	19	120312											
EXOG	9941	broad.mit.edu	37	chr3	38542927	38542927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcaatgaagattatgTtggaagtgggtggtcacgag	14	5	2	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:38542927T>C	uc003cih.2	+	3	491	c.395T>C	c.(394-396)GTT>GCT	p.V132A	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Missense_Mutation_p.V82A|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	132						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						GAAGATTATGTTGGAAGTGGG	0.443													C	38542927	T	C	38542927	3	2	237	1	0	0	0	0	1	0	0	0	5312	1725	60	3	405	3	EXOG	3	38542927	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08	6881680	38542927	159479503	20	120313											
LARS2	23395	broad.mit.edu	37	chr3	45559430	45559430	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctgagatggcaacaaCgactgtggaccttgacaact	13	9	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:45559430C>T	uc003cop.1	+	18	2265	c.2080C>T	c.(2080-2082)CGA>TGA	p.R694*	LARS2_uc010hit.1_Nonsense_Mutation_p.R651*	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	694					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	p.R694*(1)		upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATGGCAACAACGACTGTGGAC	0.507													T	45559430	C	T	45559430	4	4	237	1	0	0	0	0	0	1	0	0	8635	528	19	1	2142	1	LARS2	3	45559430	Nonsense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	7016503	45559430	152463000	21	120314											
EPHA3	2042	broad.mit.edu	37	chr3	89468434	89468434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggccattaagaccctgaaAgttggctacacagaaaagca	10	9	0	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:89468434A>C	uc003dqy.2	+	11	2193	c.1968A>C	c.(1966-1968)AAA>AAC	p.K656N	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	656	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		AGACCCTGAAAGTTGGCTACA	0.438										TSP Lung(6;0.00050)			C	89468434	A	C	89468434	3	2	237	1	0	0	0	0	1	0	0	0	5168	69	3	5	2036	5	EPHA3	3	89468434	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08	43909004	89468434	108553996	22	120315											
PAQR9	344838	broad.mit.edu	37	chr3	142681581	142681581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaggcgcgtgcagtccaCgtgccagcccaggcgctgct	14	14	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:142681581C>T	uc003evg.2	-	1	598	c.598G>A	c.(598-600)GTG>ATG	p.V200M	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	200	Extracellular (Potential).					integral to membrane	receptor activity				0						GTGCAGTCCACGTGCCAGCCC	0.647													T	142681581	C	T	142681581	3	4	237	1	0	0	0	0	1	0	0	0	11442	536	19	1	539	1	PAQR9	3	142681581	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	53213147	142681581	55340849	23	120316											
PLOD2	5352	broad.mit.edu	37	chr3	145789117	145789117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggtgcaatgaactcccGgataaaatgaagccatacat	8	9	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:145789117G>A	uc003evs.1	-	17	2385	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W	PLOD2_uc003evq.1_Missense_Mutation_p.R308W|PLOD2_uc011bnm.1_Missense_Mutation_p.R593W|PLOD2_uc003evr.1_Missense_Mutation_p.R648W	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	627					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	ATGAACTCCCGGATAAAATGA	0.413													A	145789117	G	A	145789117	3	1	237	1	0	0	0	0	1	0	0	0	12102	1115	39	1	346	1	PLOD2	3	145789117	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	3107536	145789117	52233313	24	120317											
DLG1	1739	broad.mit.edu	37	chr3	196778537	196778537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttagacgcttattcattTccctacgaaaataaatgtag	6	8	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr3:196778537T>C	uc003fxo.3	-	25	2709	c.2519A>G	c.(2518-2520)GAA>GGA	p.E840G	DLG1_uc011bub.1_Missense_Mutation_p.E736G|DLG1_uc011buc.1_Missense_Mutation_p.E724G|DLG1_uc011bud.1_Missense_Mutation_p.E523G|DLG1_uc003fxn.3_Missense_Mutation_p.E862G|DLG1_uc011bue.1_Missense_Mutation_p.E828G|DLG1_uc010ial.2_Missense_Mutation_p.E840G	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	840	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			ovary(3)	3	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)		CTTATTCATTTCCCTACGAAA	0.323													C	196778537	T	C	196778537	3	2	237	1	0	0	0	0	1	0	0	0	4554	1783	62	3	203	3	DLG1	3	196778537	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08	50989420	196778537	1243893	25	120318											
BOD1L	259282	broad.mit.edu	37	chr4	13603233	13603233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggtggtgcatcattaTctcccaggacaacacctgca	8	13	2	0	rs151182576		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr4:13603233T>C	uc003gmz.1	-	10	5408	c.5291A>G	c.(5290-5292)GAT>GGT	p.D1764G	BOD1L_uc010idr.1_Missense_Mutation_p.D1101G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1764							DNA binding			ovary(5)|breast(1)	6						TGCATCATTATCTCCCAGGAC	0.527													C	13603233	T	C	13603233	3	2	237	1	0	0	0	0	1	0	0	0	1483	1435	50	3	3932	3	BOD1L	4	13603233	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08		13603233	177551043	26	120319											
FAM13A	10144	broad.mit.edu	37	chr4	89772203	89772203	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcactaatagcaccctcTgctgaattcatgtcttccaa	6	12	3	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr4:89772203T>C	uc003hse.1	-	7	1183	c.975A>G	c.(973-975)GCA>GCG	p.A325A	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Silent_p.A139A	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	325					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TAGCACCCTCTGCTGAATTCA	0.453													C	89772203	T	C	89772203	2	2	237	1	0	0	0	0	0	0	0	1	5452	1567	55	3		3	FAM13A	4	89772203	Silent	SNP	T	TCGA-F1-6875-01A-11D-2053-08	76168970	89772203	101382073	27	120320											
TARS	6897	broad.mit.edu	37	chr5	33455057	33455057	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaattttcaggtgtattGgcactctagtgctcacataa	7	7	3	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr5:33455057G>A	uc003jhy.2	+	5	756	c.461G>A	c.(460-462)TGG>TAG	p.W154*	TARS_uc011cob.1_Nonsense_Mutation_p.W142*|TARS_uc010iup.1_Nonsense_Mutation_p.W95*|TARS_uc011coc.1_Nonsense_Mutation_p.W175*|TARS_uc003jhz.2_Nonsense_Mutation_p.W50*|TARS_uc011cod.1_Intron	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	154					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	CAGGTGTATTGGCACTCTAGT	0.383													A	33455057	G	A	33455057	4	1	237	1	0	0	0	0	0	1	0	0	15556	1357	47	4	479	4	TARS	5	33455057	Nonsense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08		33455057	147460203	28	120321											
APC	324	broad.mit.edu	37	chr5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacagtattacactaagaCgatatgctggaatggctttg	9	7	0	1	rs137854580		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr5:112162891C>T	uc010jby.2	+	12	1875	c.1495C>T	c.(1495-1497)CGA>TGA	p.R499*	APC_uc011cvt.1_Nonsense_Mutation_p.R481*|APC_uc003kpz.3_Nonsense_Mutation_p.R499*|APC_uc003kpy.3_Nonsense_Mutation_p.R499*|APC_uc010jbz.2_Nonsense_Mutation_p.R216*|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	499	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.R499*(2)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		TACACTAAGACGATATGCTGG	0.373		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112162891	C	T	112162891	4	4	237	1	0	0	0	0	0	1	0	0	763	528	19	1	1537	1	APC	5	112162891	Nonsense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	78707834	112162891	68752369	29	120322											
PCDHB10	56126	broad.mit.edu	37	chr5	140572514	140572514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggatataaatgatcacgCgccagtatttcaggacaaag	10	8	2	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr5:140572514C>T	uc003lix.2	+	1	563	c.389C>T	c.(388-390)GCG>GTG	p.A130V		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	130	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGATCACGCGCCAGTATTT	0.423													T	140572514	C	T	140572514	3	4	237	1	0	0	0	0	1	0	0	0	11535	768	27	1	391	1	PCDHB10	5	140572514	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	28409623	140572514	40342746	30	120323											
MDGA1	266727	broad.mit.edu	37	chr6	37626035	37626035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacactgcacgtccacgCggatggacttgatggccggc	12	14	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr6:37626035C>T	uc003onu.1	-	3	1547	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	123	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CACGTCCACGCGGATGGACTT	0.682													T	37626035	C	T	37626035	3	4	237	1	0	0	0	0	1	0	0	0	9406	768	27	1	2559	1	MDGA1	6	37626035	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08		37626035	133489032	31	120324											
LRFN2	57497	broad.mit.edu	37	chr6	40399786	40399786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcaatgcaggtgaagGcaccactgtcctgagatgtg	14	9	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr6:40399786G>A	uc003oph.1	-	2	1532	c.1067C>T	c.(1066-1068)GCC>GTC	p.A356V		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	356	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGTGAAGGCACCACTGTC	0.602													A	40399786	G	A	40399786	3	1	237	1	0	0	0	0	1	0	0	0	8938	1203	42	2	1310	2	LRFN2	6	40399786	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	2773751	40399786	130715281	32	120325											
MYB	4602	broad.mit.edu	37	chr6	135517008	135517008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccactccactccatctctGccagcggatcctggctccct	6	20	1	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr6:135517008G>A	uc003qfc.2	+	9	1270	c.1071G>A	c.(1069-1071)CTG>CTA	p.L357L	MYB_uc003qfh.2_Silent_p.L357L|MYB_uc003qfi.2_Silent_p.L357L|MYB_uc010kgi.2_Silent_p.L357L|MYB_uc003qfq.2_Silent_p.L354L|MYB_uc010kgj.2_Silent_p.L322L|MYB_uc003qfo.2_Intron|MYB_uc003qfu.2_Silent_p.L354L|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_Intron|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Silent_p.L169L|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Silent_p.L357L|MYB_uc003qge.1_RNA	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	357	Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTCCATCTCTGCCAGCGGATC	0.567			T	NFIB	adenoid cystic carcinoma								A	135517008	G	A	135517008	2	1	237	1	0	0	0	0	0	0	0	1	10007	1306	46	2		2	MYB	6	135517008	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08	95117222	135517008	35598059	33	120326											
GRM1	2911	broad.mit.edu	37	chr6	146480704	146480704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccatgcggcgccttggCgtcgtgggcgagttctcact	15	13	1	0	rs150520977		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr6:146480704C>T	uc010khw.1	+	3	1391	c.921C>T	c.(919-921)GGC>GGT	p.G307G	GRM1_uc010khu.1_Silent_p.G307G|GRM1_uc010khv.1_Silent_p.G307G|GRM1_uc003qll.2_Silent_p.G307G|GRM1_uc011edz.1_Silent_p.G307G|GRM1_uc011eea.1_Silent_p.G307G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	307	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCGCCTTGGCGTCGTGGGCG	0.398													T	146480704	C	T	146480704	2	4	237	1	0	0	0	0	0	0	0	1	6796	755	27	1		1	GRM1	6	146480704	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08	10963696	146480704	24634363	34	120327											
HEATR2	54919	broad.mit.edu	37	chr7	813704	813704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagtttcccagctacctcGagacggtgacaaaggacatc	11	12	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr7:813704G>A	uc010krz.1	+	10	1971	c.1951G>A	c.(1951-1953)GAG>AAG	p.E651K	HEATR2_uc003siz.2_Missense_Mutation_p.E519K|HEATR2_uc003sjb.2_Missense_Mutation_p.E31K|HEATR2_uc003sjc.2_Missense_Mutation_p.E76K	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	651							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGCTACCTCGAGACGGTGAC	0.632													A	813704	G	A	813704	3	1	237	1	0	0	0	0	1	0	0	0	7028	1059	37	1	1989	1	HEATR2	7	813704	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08		813704	158324959	35	120328											
HECW1	23072	broad.mit.edu	37	chr7	43540325	43540325	+	Frame_Shift_Del	DEL	G	G	-													atccattacattcggactgaGggtaatcacgggcttgagaa							TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr7:43540324_43540324AG>A	uc003tid.1	+	19	4069	c.3464_3464AG>A	c.(3463-3465)gagfs	p.E1155fs	HECW1_uc011kbi.1_Frame_Shift_Del_p.E1121fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1155					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTCGGACTGAGGGTAATCAC	0.443													-	43540325	G	-	43540325	7	5	237	1	0	1	0	1	0	0	0	0	7042	991	35	0	3535	0	HECW1	7	43540325	Frame_Shift_Del	DEL	G	TCGA-F1-6875-01A-11D-2053-08	42726621	43540325	115598338	36	120329											
POLM	27434	broad.mit.edu	37	chr7	44120346	44120346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacctccaggcggtgccGgcactccacaggtacaggct	12	16	1	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr7:44120346G>A	uc003tjt.2	-	2	450	c.358C>T	c.(358-360)CGG>TGG	p.R120W	POLM_uc003tju.2_Missense_Mutation_p.R120W|POLM_uc003tjx.2_Missense_Mutation_p.R120W|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_5'UTR|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.R120W|POLM_uc011kbu.1_Missense_Mutation_p.R120W|POLM_uc010kxy.2_Missense_Mutation_p.R120W	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	120	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						AGGCGGTGCCGGCACTCCACA	0.627								DNA_polymerases_(catalytic_subunits)					A	44120346	G	A	44120346	3	1	237	1	0	0	0	0	1	0	0	0	12206	1115	39	1	1166	1	POLM	7	44120346	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	580021	44120346	115018317	37	120330											
PKD1L1	168507	broad.mit.edu	37	chr7	47937792	47937792	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaggctgagacctccatatCtaagtatcaagaagagaaga	9	8	2	4			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr7:47937792C>T	uc003tny.1	-	14	2065	c.2065_splice	c.e14-1	p.I689_splice		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1						cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						ACCTCCATATCTAAGTATCAA	0.398													T	47937792	C	T	47937792	5	4	237	1	0	0	0	0	0	0	1	0	11964	927	32	4	6661	4	PKD1L1	7	47937792	Splice_Site	SNP	C	TCGA-F1-6875-01A-11D-2053-08	3817446	47937792	111200871	38	120331											
AKAP9	10142	broad.mit.edu	37	chr7	91731945	91731945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgagggcagaaagttttcGaaaggctctcatttaccaga	10	8	1	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr7:91731945G>A	uc003ulg.2	+	46	11360	c.11135G>A	c.(11134-11136)CGA>CAA	p.R3712Q	AKAP9_uc003ulf.2_Missense_Mutation_p.R3704Q|AKAP9_uc003uli.2_Missense_Mutation_p.R3335Q|AKAP9_uc003ulj.2_Missense_Mutation_p.R1482Q|AKAP9_uc003ull.2_Missense_Mutation_p.R608Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3716					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			GAAAGTTTTCGAAAGGCTCTC	0.458			T	BRAF	papillary thyroid								A	91731945	G	A	91731945	3	1	237	1	0	0	0	0	1	0	0	0	459	1058	37	1	11317	1	AKAP9	7	91731945	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	43794153	91731945	67406718	39	120332											
TAS2R5	54429	broad.mit.edu	37	chr7	141491041	141491041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggaagacagtgtgtgctCggagatgctggggcccatga	17	7	0	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr7:141491041C>T	uc003vwr.1	+	1	1025	c.880C>T	c.(880-882)CGG>TGG	p.R294W		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	taste receptor T2R5	294	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste		taste receptor activity				0	Melanoma(164;0.0171)					AGTGTGTGCTCGGAGATGCTG	0.493													T	141491041	C	T	141491041	3	4	237	1	0	0	0	0	1	0	0	0	15580	875	31	1	882	1	TAS2R5	7	141491041	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	49759096	141491041	17647622	40	120333											
ADAM28	10863	broad.mit.edu	37	chr8	24184071	24184071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcctttcttgcagagcaAcagaacttgctggaacgact	8	10	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr8:24184071A>C	uc003xdy.2	+	10	978	c.895A>C	c.(895-897)ACA>CCA	p.T299P	ADAM28_uc003xdx.2_Missense_Mutation_p.T299P|ADAM28_uc011kzz.1_Missense_Mutation_p.T66P|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_5'UTR	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	299	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTGCAGAGCAACAGAACTTGC	0.358													C	24184071	A	C	24184071	3	2	237	1	0	0	0	0	1	0	0	0	246	43	2	5	933	5	ADAM28	8	24184071	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08		24184071	122179951	41	120334											
DPYS	1807	broad.mit.edu	37	chr8	105463594	105463594	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacctttctgaggaatggcGaaatcaataatcatggtggt	10	8	3	1	rs141057778		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr8:105463594G>A	uc003yly.3	-	2	432	c.303C>T	c.(301-303)TTC>TTT	p.F101F		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	101					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGGAATGGCGAAATCAATAA	0.468													A	105463594	G	A	105463594	2	1	237	1	0	0	0	0	0	0	0	1	4746	1049	37	1		1	DPYS	8	105463594	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08	81279523	105463594	40900428	42	120335											
LRP12	29967	broad.mit.edu	37	chr8	105510027	105510027	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttggcacatcacagtctatCtcatctcctaggtcaaggca	8	12	5	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr8:105510027C>G	uc003yma.2	-	5	848	c.753G>C	c.(751-753)GAG>GAC	p.E251D	LRP12_uc003ymb.2_Missense_Mutation_p.E232D|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	251	Extracellular (Potential).|LDL-receptor class A 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACAGTCTATCTCATCTCCTA	0.398													G	105510027	C	G	105510027	3	3	237	1	0	0	0	0	1	0	0	0	8954	912	32	5	1838	5	LRP12	8	105510027	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	46433	105510027	40853995	43	120336											
CSMD3	114788	broad.mit.edu	37	chr8	113326718	113326718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaattctacaaacatggTgatattataacccttttcca	5	8	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr8:113326718T>C	uc003ynu.2	-	48	7648	c.7489A>G	c.(7489-7491)ACC>GCC	p.T2497A	CSMD3_uc003yns.2_Missense_Mutation_p.T1699A|CSMD3_uc003ynt.2_Missense_Mutation_p.T2457A|CSMD3_uc011lhx.1_Missense_Mutation_p.T2393A|CSMD3_uc003ynw.1_Missense_Mutation_p.T208A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2497	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ACAAACATGGTGATATTATAA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113326718	T	C	113326718	3	2	237	1	0	0	0	0	1	0	0	0	3946	1696	59	3	3730	3	CSMD3	8	113326718	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08	7816691	113326718	33037304	44	120337											
EPPK1	83481	broad.mit.edu	37	chr8	144940350	144940350	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggtaggccacgtccacggGcacgcggtggctgtgcacgg	17	14	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr8:144940350G>C	uc003zaa.1	-	2	15095	c.15082C>G	c.(15082-15084)CCC>GCC	p.P5028A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5028	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			ACGTCCACGGGCACGCGGTGG	0.687													C	144940350	G	C	144940350	3	2	237	1	0	0	0	0	1	0	0	0	5190	1203	42	5	194	5	EPPK1	8	144940350	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	31613632	144940350	1423672	45	120338											
RNF38	152006	broad.mit.edu	37	chr9	36339763	36339763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttggtcattctgaatcccGatgcacttctgaagcatcag	10	10	4	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr9:36339763G>A	uc003zzh.2	-	12	1725	c.1534C>T	c.(1534-1536)CGG>TGG	p.R512W	RNF38_uc003zzi.2_Missense_Mutation_p.R462W|RNF38_uc003zzj.2_Missense_Mutation_p.R429W|RNF38_uc003zzk.2_Missense_Mutation_p.R429W|RNF38_uc003zzl.2_Missense_Mutation_p.R436W|RNF38_uc003zzm.2_Missense_Mutation_p.R429W	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	512							zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			TCTGAATCCCGATGCACTTCT	0.388													A	36339763	G	A	36339763	3	1	237	1	0	0	0	0	1	0	0	0	13490	1057	37	1	17	1	RNF38	9	36339763	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08		36339763	104873668	46	120339											
ZNF462	58499	broad.mit.edu	37	chr9	109686821	109686821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccctgtggttccgcccGtatcactgcaggacccctgc	10	17	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr9:109686821G>A	uc004bcz.2	+	3	917	c.628G>A	c.(628-630)GTA>ATA	p.V210I	ZNF462_uc010mto.2_Missense_Mutation_p.V58I|ZNF462_uc004bda.2_Missense_Mutation_p.V58I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	210					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GGTTCCGCCCGTATCACTGCA	0.507													A	109686821	G	A	109686821	3	1	237	1	0	0	0	0	1	0	0	0	17923	1145	40	1	634	1	ZNF462	9	109686821	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	73347058	109686821	31526610	47	120340											
TLR4	7099	broad.mit.edu	37	chr9	120475034	120475034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactcaatctctctttagacCtgtccctgaaccctatgaac	4	14	3	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr9:120475034C>A	uc004bjz.2	+	3	919	c.628C>A	c.(628-630)CTG>ATG	p.L210M	TLR4_uc004bka.2_Missense_Mutation_p.L170M|TLR4_uc004bkb.2_Missense_Mutation_p.L10M	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	210	LRR 7.|Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						CTCTTTAGACCTGTCCCTGAA	0.368													A	120475034	C	A	120475034	3	1	237	1	0	0	0	0	1	0	0	0	15950	680	24	5	638	5	TLR4	9	120475034	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	10788213	120475034	20738397	48	120341											
ZNF438	220929	broad.mit.edu	37	chr10	31134426	31134426	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctgagcagtaatctgacaacGaccacatttgatttgtaatt	7	8	1	3	rs146555674	by1000genomes	TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr10:31134426G>C	uc010qdz.1	-	8	2386	c.1951C>G	c.(1951-1953)CGT>GGT	p.R651G	ZNF438_uc001ivn.2_Missense_Mutation_p.R602G|ZNF438_uc010qdy.1_Missense_Mutation_p.R641G|ZNF438_uc001ivo.3_Missense_Mutation_p.R215G|ZNF438_uc009xlg.2_Missense_Mutation_p.R651G|ZNF438_uc001ivp.3_Missense_Mutation_p.R641G|ZNF438_uc010qea.1_Missense_Mutation_p.R651G|ZNF438_uc010qeb.1_Missense_Mutation_p.R651G	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				ATCTGACAACGACCACATTTG	0.408													C	31134426	G	C	31134426	3	2	237	1	0	0	0	0	1	0	0	0	17907	1058	37	5	539	5	ZNF438	10	31134426	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08		31134426	104400321	49	120342											
ACTA2	59	broad.mit.edu	37	chr10	90699289	90699289	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggatggctggaacagggtCtctgggcagcggaaacgttc	16	8	1	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr10:90699289C>T	uc001kfp.2	-	7	899	c.783G>A	c.(781-783)GAG>GAA	p.E261E	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.E216E|ACTA2_uc001kfq.2_Silent_p.E261E|uc001kfo.1_RNA	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	261					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GGAACAGGGTCTCTGGGCAGC	0.532													T	90699289	C	T	90699289	2	4	237	1	0	0	0	0	0	0	0	1	192	912	32	4		4	ACTA2	10	90699289	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08	59564863	90699289	44835458	50	120343											
NLRP10	338322	broad.mit.edu	37	chr11	7981973	7981973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagcagcccccatcatcatCgggcggcagaaaggtggaga	15	11	2	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:7981973C>T	uc001mfv.1	-	2	1203	c.1186G>A	c.(1186-1188)GAT>AAT	p.D396N		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	396	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATCATCATCGGGCGGCAGA	0.557													T	7981973	C	T	7981973	3	4	237	1	0	0	0	0	1	0	0	0	10472	884	31	1	785	1	NLRP10	11	7981973	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08		7981973	127024543	51	120344											
KCNJ11	3767	broad.mit.edu	37	chr11	17409232	17409232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcctcagtcaccatgCgccccccaaagccaatagtc	7	18	2	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:17409232C>T	uc001mna.2	-	1	975	c.407G>A	c.(406-408)CGC>CAC	p.R136H	KCNJ11_uc001mnb.3_Missense_Mutation_p.R49H	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	136						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AGTCACCATGCGCCCCCCAAA	0.562													T	17409232	C	T	17409232	3	4	237	1	0	0	0	0	1	0	0	0	8045	768	27	1	769	1	KCNJ11	11	17409232	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	9427259	17409232	117597284	52	120345											
DGKZ	8525	broad.mit.edu	37	chr11	46400600	46400600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagacgagcagagtcgcacGctcctgcaccacgcagtcag	12	15	1	2	rs142962841		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:46400600G>A	uc001ncn.1	+	29	3167	c.3042G>A	c.(3040-3042)ACG>ACA	p.T1014T	DGKZ_uc001nch.1_Silent_p.T842T|DGKZ_uc010rgq.1_3'UTR|DGKZ_uc001ncj.1_Silent_p.T792T|DGKZ_uc010rgr.1_Silent_p.T791T|DGKZ_uc001nck.1_Silent_p.T604T|DGKZ_uc001ncl.2_Silent_p.T826T|DGKZ_uc001ncm.2_Silent_p.T825T|DGKZ_uc009yky.1_Silent_p.T826T|DGKZ_uc010rgs.1_Silent_p.T803T|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank|MDK_uc001ncp.2_5'Flank|MDK_uc009yla.2_5'Flank|MDK_uc009ylb.2_5'Flank|MDK_uc001ncq.2_5'Flank|MDK_uc001ncr.2_5'Flank|MDK_uc001ncs.2_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	1014	ANK 1.				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|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGAGTCGCACGCTCCTGCACC	0.692													A	46400600	G	A	46400600	2	1	237	1	0	0	0	0	0	0	0	1	4474	1074	38	1		1	DGKZ	11	46400600	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08	28991368	46400600	88605916	53	120346											
ARFGAP2	84364	broad.mit.edu	37	chr11	47188381	47188381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcgaatttctgacgcGcctcactagactcgaggcct	9	15	2	2	rs139591977		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:47188381G>A	uc001ndt.2	-	13	1277	c.1262C>T	c.(1261-1263)GCG>GTG	p.A421V	ARFGAP2_uc010rha.1_Missense_Mutation_p.A152V|ARFGAP2_uc010rhb.1_Missense_Mutation_p.A393V|ARFGAP2_uc001ndu.2_Missense_Mutation_p.A285V|ARFGAP2_uc010rhc.1_Missense_Mutation_p.A152V	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	421	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						TTTCTGACGCGCCTCACTAGA	0.567													A	47188381	G	A	47188381	3	1	237	1	0	0	0	0	1	0	0	0	850	1087	38	1	319	1	ARFGAP2	11	47188381	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	787781	47188381	87818135	54	120347											
MADD	8567	broad.mit.edu	37	chr11	47296188	47296188	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggaggatcacactgagtTtcccctgcccccagatgtag	10	13	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:47296188T>G	uc001ner.1	+	3	328	c.137T>G	c.(136-138)TTT>TGT	p.F46C	MADD_uc001neq.2_Missense_Mutation_p.F46C|MADD_uc001nev.1_Missense_Mutation_p.F46C|MADD_uc001nes.1_Missense_Mutation_p.F46C|MADD_uc001net.1_Missense_Mutation_p.F46C|MADD_uc009yln.1_Missense_Mutation_p.F46C|MADD_uc001neu.1_Missense_Mutation_p.F46C|MADD_uc001nex.2_Missense_Mutation_p.F46C|MADD_uc001nez.2_Missense_Mutation_p.F46C|MADD_uc001new.2_Missense_Mutation_p.F46C	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	46	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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CACACTGAGTTTCCCCTGCCC	0.567													G	47296188	T	G	47296188	3	3	237	1	0	0	0	0	1	0	0	0	9152	1841	64	5	143	5	MADD	11	47296188	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08	107807	47296188	87710328	55	120348											
FNBP4	23360	broad.mit.edu	37	chr11	47765704	47765704	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccttcctccaaggcTcgcaactctgcctacaaaga	5	17	2	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:47765704T>G	uc009ylv.2	-	8	1410	c.1257A>C	c.(1255-1257)CGA>CGC	p.R419R	FNBP4_uc001ngj.2_Silent_p.R326R|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	419										ovary(1)	1						CCTCCAAGGCTCGCAACTCTG	0.388													G	47765704	T	G	47765704	2	3	237	1	0	0	0	0	0	0	0	1	5967	1538	54	5		5	FNBP4	11	47765704	Silent	SNP	T	TCGA-F1-6875-01A-11D-2053-08	469516	47765704	87240812	56	120349											
SYVN1	84447	broad.mit.edu	37	chr11	64897313	64897313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtgctgccgctcatGgccctccagagctcgtagct	11	16	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:64897313G>T	uc001odb.2	-	14	1577	c.1483C>A	c.(1483-1485)CAT>AAT	p.H495N	SYVN1_uc001odc.2_Missense_Mutation_p.H494N|SYVN1_uc009yqc.2_Missense_Mutation_p.H443N	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	495	Cytoplasmic (Potential).				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			ovary(1)	1						TGCCGCTCATGGCCCTCCAGA	0.652													T	64897313	G	T	64897313	3	4	237	1	0	0	0	0	1	0	0	0	15484	1348	47	5	382	5	SYVN1	11	64897313	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	17131609	64897313	70109203	57	120350											
FAT3	120114	broad.mit.edu	37	chr11	92577863	92577863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcatcagctttgtgtgtcCgcgtttctacaggaacgtgc	11	11	2	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:92577863C>T	uc001pdj.3	+	18	11347	c.11330C>T	c.(11329-11331)CCG>CTG	p.P3777L	FAT3_uc001pdi.3_Missense_Mutation_p.P217L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3777	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGTGTGTCCGCGTTTCTAC	0.517										TCGA Ovarian(4;0.039)			T	92577863	C	T	92577863	3	4	237	1	0	0	0	0	1	0	0	0	5691	652	23	1	11400	1	FAT3	11	92577863	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	27680550	92577863	42428653	58	120351											
CCDC84	338657	broad.mit.edu	37	chr11	118886110	118886110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggctggctgccctcttTtggccgcgtctggaataatg	13	11	2	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:118886110T>C	uc001pul.2	+	10	955	c.899T>C	c.(898-900)TTT>TCT	p.F300S	CCDC84_uc010ryk.1_RNA|CCDC84_uc010ryl.1_RNA|CCDC84_uc010rym.1_RNA	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	300										ovary(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGCCCTCTTTTGGCCGCGTC	0.542													C	118886110	T	C	118886110	3	2	237	1	0	0	0	0	1	0	0	0	2858	1841	64	3	937	3	CCDC84	11	118886110	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08	26308247	118886110	16120406	59	120352											
NTM	50863	broad.mit.edu	37	chr11	131781508	131781508	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaagctatggacaacGtgacggtccggcagggggag	15	11	0	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:131781508G>C	uc001qgp.2	+	1	797	c.133G>C	c.(133-135)GTG>CTG	p.V45L	NTM_uc001qgm.2_Missense_Mutation_p.V45L|NTM_uc010sch.1_Missense_Mutation_p.V36L|NTM_uc010sci.1_Missense_Mutation_p.V45L|NTM_uc010scj.1_Missense_Mutation_p.V4L|NTM_uc001qgo.2_Missense_Mutation_p.V45L|NTM_uc001qgq.2_Missense_Mutation_p.V45L	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	45	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						TATGGACAACGTGACGGTCCG	0.617											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	131781508	G	C	131781508	3	2	237	1	0	0	0	0	1	0	0	0	10699	1145	40	5	221	5	NTM	11	131781508	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	12895398	131781508	3225008	60	120353											
GLB1L2	89944	broad.mit.edu	37	chr11	134238552	134238552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagaggttttgaaaaccGtgtctgccattgtggacgcc	13	10	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr11:134238552G>A	uc001qhp.2	+	10	1092	c.904G>A	c.(904-906)GTG>ATG	p.V302M	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	302					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	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)		TTTGAAAACCGTGTCTGCCAT	0.532													A	134238552	G	A	134238552	3	1	237	1	0	0	0	0	1	0	0	0	6429	1145	40	1	942	1	GLB1L2	11	134238552	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	2457044	134238552	767964	61	120354											
A2ML1	144568	broad.mit.edu	37	chr12	9001452	9001452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggcattcgagccagcGttccattatctggaggccct	11	13	1	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr12:9001452G>A	uc001quz.3	+	16	2068	c.1970G>A	c.(1969-1971)CGT>CAT	p.R657H	A2ML1_uc001qva.1_Missense_Mutation_p.R237H|A2ML1_uc010sgm.1_Missense_Mutation_p.R157H	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	501						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TCGAGCCAGCGTTCCATTATC	0.522													A	9001452	G	A	9001452	3	1	237	1	0	0	0	0	1	0	0	0	5	1145	40	1	2032	1	A2ML1	12	9001452	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08		9001452	124850443	62	120355											
HOXC12	3228	broad.mit.edu	37	chr12	54348852	54348852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgctgtcctacccacgcCgcgacaacgtgtgctccctg	9	18	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr12:54348852C>T	uc010soq.1	+	1	139	c.139C>T	c.(139-141)CGC>TGC	p.R47C		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	47					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						CTACCCACGCCGCGACAACGT	0.672													T	54348852	C	T	54348852	3	4	237	1	0	0	0	0	1	0	0	0	7311	652	23	1	141	1	HOXC12	12	54348852	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	45347400	54348852	79503043	63	120356											
CHST11	50515	broad.mit.edu	37	chr12	105150997	105150997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgaggcacacgtctccGccaacctgaagaccctgaac	8	17	1	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr12:105150997G>A	uc001tkx.1	+	4	766	c.475G>A	c.(475-477)GCC>ACC	p.A159T	CHST11_uc001tky.2_Missense_Mutation_p.A154T|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	159	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						ACACGTCTCCGCCAACCTGAA	0.592													A	105150997	G	A	105150997	3	1	237	1	0	0	0	0	1	0	0	0	3399	1087	38	1	485	1	CHST11	12	105150997	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	50802145	105150997	28700898	64	120357											
CLIP1	6249	broad.mit.edu	37	chr12	122757592	122757592	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcgtggagatcaaagcagtCacaaatgtcacagaagaggc	12	8	3	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr12:122757592C>T	uc001ucg.1	-	25	4253	c.4147G>A	c.(4147-4149)GAC>AAC	p.D1383N	CLIP1_uc001uch.1_Missense_Mutation_p.D1372N|CLIP1_uc001uci.1_Missense_Mutation_p.D1337N|CLIP1_uc001ucf.1_Missense_Mutation_p.D42N	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1383					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	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)		TCAAAGCAGTCACAAATGTCA	0.468													T	122757592	C	T	122757592	3	4	237	1	0	0	0	0	1	0	0	0	3532	826	29	4	173	4	CLIP1	12	122757592	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	17606595	122757592	11094303	65	120358											
MAB21L1	4081	broad.mit.edu	37	chr13	36049251	36049251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcttgccagtcgccacGtttgtttggcagcgttttcc	9	13	2	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr13:36049251G>A	uc001uvc.2	-	1	1582	c.1025C>T	c.(1024-1026)ACG>ATG	p.T342M	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	342					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		CAGTCGCCACGTTTGTTTGGC	0.473													A	36049251	G	A	36049251	3	1	237	1	0	0	0	0	1	0	0	0	9141	1145	40	1	58	1	MAB21L1	13	36049251	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08		36049251	79120627	66	120359											
ATP11A	23250	broad.mit.edu	37	chr13	113526064	113526064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagatatttggaaactggAcgtttggaacgctggtattc	11	6	0	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr13:113526064A>G	uc001vsi.3	+	26	3095	c.3007A>G	c.(3007-3009)ACG>GCG	p.T1003A	ATP11A_uc001vsj.3_Missense_Mutation_p.T1003A|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	1003	Helical; (Potential).				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			large_intestine(2)|ovary(2)	4	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)				TGGAAACTGGACGTTTGGAAC	0.428													G	113526064	A	G	113526064	3	3	237	1	0	0	0	0	1	0	0	0	1119	275	10	3	3109	3	ATP11A	13	113526064	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08	77476813	113526064	1643814	67	120360											
OR4N2	390429	broad.mit.edu	37	chr14	20296316	20296316	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcaaaaaacaaggccAtgtccacgtgcatcacccat	8	13	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr14:20296316A>T	uc010tkv.1	+	1	709	c.709A>T	c.(709-711)ATG>TTG	p.M237L		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	237	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAACAAGGCCATGTCCACGTG	0.502													T	20296316	A	T	20296316	3	4	237	1	0	0	0	0	1	0	0	0	11077	217	8	5	711	5	OR4N2	14	20296316	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08		20296316	87053224	68	120361											
OR4K13	390433	broad.mit.edu	37	chr14	20502652	20502652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccatgagatggtcttaCgttctcggaggaaatctaca	9	11	3	1	rs138902767		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr14:20502652C>A	uc010tkz.1	-	1	266	c.266G>T	c.(265-267)CGT>CTT	p.R89L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GATGGTCTTACGTTCTCGGAG	0.458													A	20502652	C	A	20502652	3	1	237	1	0	0	0	0	1	0	0	0	11068	536	19	5	650	5	OR4K13	14	20502652	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	206336	20502652	86846888	69	120362											
NIN	51199	broad.mit.edu	37	chr14	51243828	51243828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactctgtgaagcattcaAgtcatctgggttccaaaacc	7	12	4	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr14:51243828A>C	uc001wym.2	-	7	696	c.505T>G	c.(505-507)TTG>GTG	p.L169V	NIN_uc001wyi.2_Missense_Mutation_p.L169V|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.L169V|NIN_uc010tqp.1_Missense_Mutation_p.L175V|NIN_uc001wyo.2_Missense_Mutation_p.L169V|NIN_uc001wyp.1_Missense_Mutation_p.L131V	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	169					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GAAGCATTCAAGTCATCTGGG	0.448			T	PDGFRB	MPD								C	51243828	A	C	51243828	3	2	237	1	0	0	0	0	1	0	0	0	10417	69	3	5	6144	5	NIN	14	51243828	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08	30741176	51243828	56105712	70	120363											
C14orf37	145407	broad.mit.edu	37	chr14	58605379	58605379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccaggaaaagaagttGtcctgtggtctgtgtctgct	12	9	2	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr14:58605379G>A	uc001xdc.2	-	2	809	c.698C>T	c.(697-699)ACA>ATA	p.T233I	C14orf37_uc010tro.1_Missense_Mutation_p.T271I|C14orf37_uc001xdd.2_Missense_Mutation_p.T233I|C14orf37_uc001xde.2_Missense_Mutation_p.T233I	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	233	Extracellular (Potential).					integral to membrane	binding				0						AAAAGAAGTTGTCCTGTGGTC	0.483													A	58605379	G	A	58605379	3	1	237	1	0	0	0	0	1	0	0	0	1771	1377	48	4	1654	4	C14orf37	14	58605379	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	7361551	58605379	48744161	71	120364											
PLEKHG3	26030	broad.mit.edu	37	chr14	65207762	65207762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgtttcaggttgagccGgaccctgaggctgggagtga	16	8	1	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr14:65207762G>A	uc001xho.1	+	16	1796	c.1527G>A	c.(1525-1527)CCG>CCA	p.P509P	PLEKHG3_uc001xhn.1_Silent_p.P453P|PLEKHG3_uc001xhp.2_Silent_p.P630P|PLEKHG3_uc010aqh.1_Silent_p.P51P|PLEKHG3_uc001xhq.1_Silent_p.P14P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	509					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGTTGAGCCGGACCCTGAGG	0.552													A	65207762	G	A	65207762	2	1	237	1	0	0	0	0	0	0	0	1	12070	1103	39	1		1	PLEKHG3	14	65207762	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08	6602383	65207762	42141778	72	120365											
GALNTL1	57452	broad.mit.edu	37	chr14	69805397	69805397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgtggatgtgtggtGgcagtctggagatcgtcccc	17	8	2	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr14:69805397G>T	uc010aqu.1	+	10	1090	c.997G>T	c.(997-999)GGC>TGC	p.G333C	GALNTL1_uc001xla.1_Missense_Mutation_p.G333C|GALNTL1_uc001xlb.1_Missense_Mutation_p.G333C	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	333	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GATGTGTGGTGGCAGTCTGGA	0.587													T	69805397	G	T	69805397	3	4	237	1	0	0	0	0	1	0	0	0	6221	1348	47	5	1035	5	GALNTL1	14	69805397	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	4597635	69805397	37544143	73	120366											
APBA2	321	broad.mit.edu	37	chr15	29346255	29346255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcggccagagagcccCgcgccagaggaacaggagtg	16	14	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr15:29346255C>T	uc001zck.2	+	3	375	c.168C>T	c.(166-168)CCC>CCT	p.P56P	APBA2_uc010azj.2_Silent_p.P56P|APBA2_uc010uat.1_Silent_p.P56P|APBA2_uc001zcl.2_Silent_p.P56P|APBA2_uc010uas.1_Silent_p.P56P	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	56					nervous system development|protein transport		protein binding				0		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)		CAGAGAGCCCCGCGCCAGAGG	0.657													T	29346255	C	T	29346255	2	4	237	1	0	0	0	0	0	0	0	1	757	639	23	1		1	APBA2	15	29346255	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08		29346255	73185137	74	120367											
DMXL2	23312	broad.mit.edu	37	chr15	51749571	51749571	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagtgcccagccatggcagaGatgaaggtggatgcacctga	14	10	0	3			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr15:51749571G>C	uc002abf.2	-	36	8450	c.8225C>G	c.(8224-8226)TCT>TGT	p.S2742C	DMXL2_uc002abd.2_Missense_Mutation_p.S834C|DMXL2_uc010ufy.1_Missense_Mutation_p.S2743C|DMXL2_uc010bfa.2_Missense_Mutation_p.S2106C	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2742						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CCATGGCAGAGATGAAGGTGG	0.428													C	51749571	G	C	51749571	3	2	237	1	0	0	0	0	1	0	0	0	4595	942	33	5	917	5	DMXL2	15	51749571	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	22403316	51749571	50781821	75	120368											
BBS4	585	broad.mit.edu	37	chr15	73029293	73029293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcagctgcatacaggaCgctcccctcaggtaggacca	10	14	2	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr15:73029293C>T	uc002avb.2	+	15	1482	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	BBS4_uc010ukv.1_Missense_Mutation_p.T468M|BBS4_uc002avc.2_Missense_Mutation_p.T308M|BBS4_uc002avd.2_Missense_Mutation_p.T488M	NM_033028	NP_149017	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				0						GCATACAGGACGCTCCCCTCA	0.522									Bardet-Biedl_syndrome				T	73029293	C	T	73029293	3	4	237	1	0	0	0	0	1	0	0	0	1339	536	19	1	1497	1	BBS4	15	73029293	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	21279722	73029293	29502099	76	120369											
ACAN	176	broad.mit.edu	37	chr15	89391173	89391173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcccccggaccccatgcGtgggtgacaaggacagcagc	14	14	0	2	rs62640041		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr15:89391173G>A	uc010upo.1	+	9	2010	c.1636G>A	c.(1636-1638)GTG>ATG	p.V546M	ACAN_uc002bmx.2_Missense_Mutation_p.V546M|ACAN_uc010upp.1_Missense_Mutation_p.V546M|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	546					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCCCATGCGTGGGTGACAA	0.592													A	89391173	G	A	89391173	3	1	237	1	0	0	0	0	1	0	0	0	117	1145	40	1	1666	1	ACAN	15	89391173	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	16361880	89391173	13140219	77	120370											
IL21R	50615	broad.mit.edu	37	chr16	27460309	27460309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccctgggctaggagggcCcctgggaagcctcctggaca	15	14	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr16:27460309C>T	uc002doq.1	+	9	1555	c.1322C>T	c.(1321-1323)CCC>CTC	p.P441L	IL21R_uc002dor.1_Missense_Mutation_p.P441L|IL21R_uc002dos.1_Missense_Mutation_p.P441L|uc002dot.2_RNA	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	441	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						CTAGGAGGGCCCCTGGGAAGC	0.667			T	BCL6	NHL								T	27460309	C	T	27460309	3	4	237	1	0	0	0	0	1	0	0	0	7671	623	22	4	1352	4	IL21R	16	27460309	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08		27460309	62894444	78	120371											
CES7	221223	broad.mit.edu	37	chr16	55880585	55880585	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagagacaggtcgttcccAttaggattcctagaagggag	12	9	0	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr16:55880585A>G	uc002eip.2	-	13	1655	c.1506T>C	c.(1504-1506)AAT>AAC	p.N502N	CES7_uc002eio.2_Silent_p.N452N|CES7_uc002eiq.2_Silent_p.N263N|CES7_uc002eir.2_Silent_p.N396N	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	502						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GGTCGTTCCCATTAGGATTCC	0.547													G	55880585	A	G	55880585	2	3	237	1	0	0	0	0	0	0	0	1	3272	214	8	3		3	CES7	16	55880585	Silent	SNP	A	TCGA-F1-6875-01A-11D-2053-08	28420276	55880585	34474168	79	120372											
GOT2	2806	broad.mit.edu	37	chr16	58752443	58752443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacttactgaaatatcctcCacagcgcctgtgaagtcaaa	6	12	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr16:58752443C>T	uc002eof.1	-	5	699	c.585G>A	c.(583-585)GTG>GTA	p.V195V	GOT2_uc010vim.1_Silent_p.V152V	NM_002080	NP_002071	P00505	AATM_HUMAN	aspartate aminotransferase 2 precursor	195					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			central_nervous_system(1)|skin(1)	2					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAATATCCTCCACAGCGCCTG	0.488													T	58752443	C	T	58752443	2	4	237	1	0	0	0	0	0	0	0	1	6581	581	21	4		4	GOT2	16	58752443	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08	2871858	58752443	31602310	80	120373											
CDH8	1006	broad.mit.edu	37	chr16	61823293	61823293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtgccatacacttaaTtctctgtcaagtggtgttgc	9	8	2	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr16:61823293T>C	uc002eog.1	-	8	1623	c.1371A>G	c.(1369-1371)GAA>GAG	p.E457E	CDH8_uc002eoh.2_Silent_p.E226E	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	457	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		ATACACTTAATTCTCTGTCAA	0.413													C	61823293	T	C	61823293	2	2	237	1	0	0	0	0	0	0	0	1	3116	1490	52	3		3	CDH8	16	61823293	Silent	SNP	T	TCGA-F1-6875-01A-11D-2053-08	3070850	61823293	28531460	81	120374											
PITPNM3	83394	broad.mit.edu	37	chr17	6368010	6368010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaccatgtcgaggggccCgtacatgaaccgccccacca	10	17	0	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr17:6368010C>T	uc002gdd.3	-	15	2123	c.1972G>A	c.(1972-1974)GGG>AGG	p.G658R	PITPNM3_uc010cln.2_Missense_Mutation_p.G622R|PITPNM3_uc010clm.2_Missense_Mutation_p.G141R|PITPNM3_uc002gdc.3_Missense_Mutation_p.G249R	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	658					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCGAGGGGCCCGTACATGAAC	0.607													T	6368010	C	T	6368010	3	4	237	1	0	0	0	0	1	0	0	0	11952	652	23	1	976	1	PITPNM3	17	6368010	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08		6368010	74827200	82	120375											
TP53	7157	broad.mit.edu	37	chr17	7577497	7577497	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcaagtggctcctgAcctggagtcttccagtgtga	15	9	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr17:7577497A>C	uc002gim.2	-	7	976	c.782_splice	c.e7+1	p.S261_splice	TP53_uc002gig.1_Splice_Site_p.R261_splice|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.?(3)|p.E258fs*71(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GTGGCTCCTGACCTGGAGTCT	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			C	7577497	A	C	7577497	5	2	237	1	0	0	0	0	0	0	1	0	16378	289	10	5	506	5	TP53	17	7577497	Splice_Site	SNP	A	TCGA-F1-6875-01A-11D-2053-08	1209487	7577497	73617713	83	120376											
FOXN1	8456	broad.mit.edu	37	chr17	26851007	26851007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgtcgctacccccgcCgcagtctgacgtcacgctgc	12	16	2	1	rs148865374	byFrequency	TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr17:26851007C>T	uc010crm.2	+	2	218	c.20C>T	c.(19-21)CCG>CTG	p.P7L	FOXN1_uc002hbj.2_Missense_Mutation_p.P7L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	7					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			skin(1)	1	Lung NSC(42;0.00431)					CTACCCCCGCCGCAGTCTGAC	0.677													T	26851007	C	T	26851007	3	4	237	1	0	0	0	0	1	0	0	0	6019	652	23	1	22	1	FOXN1	17	26851007	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	19273510	26851007	54344203	84	120377											
AARSD1	80755	broad.mit.edu	37	chr17	41108328	41108328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatcatcaggcaaaccccGgccactcacctggactcaag	8	15	4	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr17:41108328G>A	uc002icc.2	-	6	559	c.556C>T	c.(556-558)CGG>TGG	p.R186W	AARSD1_uc002icd.2_Missense_Mutation_p.R299W|AARSD1_uc002ice.2_Missense_Mutation_p.R269W|AARSD1_uc002icf.2_Missense_Mutation_p.R360W|AARSD1_uc010whg.1_Missense_Mutation_p.R360W|AARSD1_uc010cyu.1_Missense_Mutation_p.R186W	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	186					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCAAACCCCGGCCACTCACC	0.542													A	41108328	G	A	41108328	3	1	237	1	0	0	0	0	1	0	0	0	21	1115	39	1	710	1	AARSD1	17	41108328	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	14257321	41108328	40086882	85	120378											
TMC6	11322	broad.mit.edu	37	chr17	76121030	76121030	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accccgccgctgcccggctgGcccctccacttccccctcgg	9	24	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr17:76121030G>C	uc002juj.1	-	6	699	c.573C>G	c.(571-573)GGC>GGG	p.G191G	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Silent_p.G24G|TMC6_uc002juk.2_Silent_p.G191G|TMC6_uc010dhg.1_Silent_p.G191G|TMC6_uc002jul.1_Silent_p.G191G|TMC6_uc002jum.3_Silent_p.G24G|TMC6_uc002jun.3_Silent_p.G191G|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_Silent_p.G24G	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	191	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCCGGCTGGCCCCTCCACT	0.692									Epidermodysplasia_Verruciformis_Familial_Clustering_of				C	76121030	G	C	76121030	2	2	237	1	0	0	0	0	0	0	0	1	15986	1190	42	5		5	TMC6	17	76121030	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08	35012702	76121030	5074180	86	120379											
ZNF536	9745	broad.mit.edu	37	chr19	31040279	31040279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgggcctgccaaagccGgagcgggggccccagagcct	17	14	0	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr19:31040279G>A	uc002nsu.1	+	4	3891	c.3753G>A	c.(3751-3753)CCG>CCA	p.P1251P	ZNF536_uc010edd.1_Silent_p.P1251P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TGCCAAAGCCGGAGCGGGGGC	0.607													A	31040279	G	A	31040279	2	1	237	1	0	0	0	0	0	0	0	1	17971	1103	39	1		1	ZNF536	19	31040279	Silent	SNP	G	TCGA-F1-6875-01A-11D-2053-08		31040279	28088704	87	120380											
PPFIA3	8541	broad.mit.edu	37	chr19	49646220	49646220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgccatccaggagatgGtctcgctcacctcgccctca	9	18	3	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr19:49646220G>T	uc002pmr.2	+	21	3036	c.2704G>T	c.(2704-2706)GTC>TTC	p.V902F	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.V770F|PPFIA3_uc002pmt.2_Missense_Mutation_p.V50F	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	902	SAM 1.					cell surface|cytoplasm	protein binding			lung(1)	1		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)		CCAGGAGATGGTCTCGCTCAC	0.652													T	49646220	G	T	49646220	3	4	237	1	0	0	0	0	1	0	0	0	12311	1261	44	5	2782	5	PPFIA3	19	49646220	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	18605941	49646220	9482763	88	120381											
ZNF530	348327	broad.mit.edu	37	chr19	58118470	58118470	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcgatgaatgtgggaAatcctatagccaaagctctg	12	7	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr19:58118470A>C	uc002qpk.2	+	3	1797	c.1577A>C	c.(1576-1578)AAA>ACA	p.K526T	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	526	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GAATGTGGGAAATCCTATAGC	0.453													C	58118470	A	C	58118470	3	2	237	1	0	0	0	0	1	0	0	0	17968	14	1	5	1587	5	ZNF530	19	58118470	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08	8472250	58118470	1010513	89	120382											
CCDC116	164592	broad.mit.edu	37	chr22	21991296	21991296	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaagccgagattgaagaTgaagatgaggatgagttcaa	13	3	1	7			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr22:21991296T>C	uc002zve.2	+	5	1872	c.1779T>C	c.(1777-1779)GAT>GAC	p.D593D		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	Error:Variant_position_missing_in_Q8IYX3_after_alignment										ovary(1)|skin(1)	2	Colorectal(54;0.105)					AGATTGAAGATGAAGATGagg	0.448													C	21991296	T	C	21991296	2	2	237	1	0	0	0	0	0	0	0	1	2753	1461	51	3		3	CCDC116	22	21991296	Silent	SNP	T	TCGA-F1-6875-01A-11D-2053-08		21991296	29313270	90	120383											
IGLL1	3543	broad.mit.edu	37	chr22	23917253	23917253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggccagtccaggagcCgcgctggagcaggaacctgc	16	14	0	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr22:23917253C>T	uc002zxd.2	-	2	341	c.223G>A	c.(223-225)GGC>AGC	p.G75S	IGLL1_uc002zxe.2_Intron	NM_020070	NP_064455	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1 isoform	75					immune response	extracellular region|membrane					0						GTCCAGGAGCCGCGCTGGAGC	0.632													T	23917253	C	T	23917253	3	4	237	1	0	0	0	0	1	0	0	0	7593	652	23	1	426	1	IGLL1	22	23917253	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	1925957	23917253	27387313	91	120384											
MYO18B	84700	broad.mit.edu	37	chr22	26173746	26173746	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtgtggatggcagggtctCaggtatggtggtctctaggt	17	6	2	0			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chr22:26173746C>A	uc003abz.1	+	8	2316	c.2066C>A	c.(2065-2067)TCA>TAA	p.S689*	MYO18B_uc003aca.1_Nonsense_Mutation_p.S570*|MYO18B_uc010guy.1_Nonsense_Mutation_p.S570*|MYO18B_uc010guz.1_Nonsense_Mutation_p.S570*|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Nonsense_Mutation_p.S202*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	689	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGCAGGGTCTCAGGTATGGTG	0.542													A	26173746	C	A	26173746	4	1	237	1	0	0	0	0	0	1	0	0	10066	838	29	5	2092	5	MYO18B	22	26173746	Nonsense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	2256493	26173746	25130820	92	120385											
ACOT9	23597	broad.mit.edu	37	chrX	23724827	23724827	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattttcagtaacgacgtggAgctgaaggcaattcttctcc	9	10	3	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chrX:23724827A>T	uc004dap.2	-	10	879	c.733T>A	c.(733-735)TCC>ACC	p.S245T	ACOT9_uc004dan.2_5'UTR|ACOT9_uc004dao.2_Missense_Mutation_p.S254T|ACOT9_uc004daq.2_Missense_Mutation_p.S203T|ACOT9_uc004dar.2_Missense_Mutation_p.S185T|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.S185T	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	245					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						AACGACGTGGAGCTGAAGGCA	0.507													T	23724827	A	T	23724827	3	4	237	1	0	0	0	0	1	0	0	0	157	304	11	5	610	5	ACOT9	23	23724827	Missense_Mutation	SNP	A	TCGA-F1-6875-01A-11D-2053-08		23724827	131545733	93	120386											
MAGEB6	158809	broad.mit.edu	37	chrX	26212897	26212897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtctgggagttcctgGgtctgttggggatatatgat	17	4	2	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chrX:26212897G>A	uc004dbr.2	+	2	1083	c.934G>A	c.(934-936)GGT>AGT	p.G312S	MAGEB6_uc010ngc.1_Missense_Mutation_p.G92S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	312	MAGE.									ovary(3)	3						GGAGTTCCTGGGTCTGTTGGG	0.498													A	26212897	G	A	26212897	3	1	237	1	0	0	0	0	1	0	0	0	9179	1232	43	4	936	4	MAGEB6	23	26212897	Missense_Mutation	SNP	G	TCGA-F1-6875-01A-11D-2053-08	2488070	26212897	129057663	94	120387											
FAM47A	158724	broad.mit.edu	37	chrX	34148843	34148843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcttgggaggctccgagCggagactggacgtccgacga	17	10	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chrX:34148843C>T	uc004ddg.2	-	1	1586	c.1553G>A	c.(1552-1554)CGC>CAC	p.R518H		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	518										ovary(4)|central_nervous_system(1)	5						AGGCTCCGAGCGGAGACTGGA	0.652													T	34148843	C	T	34148843	3	4	237	1	0	0	0	0	1	0	0	0	5569	768	27	1	826	1	FAM47A	23	34148843	Missense_Mutation	SNP	C	TCGA-F1-6875-01A-11D-2053-08	7935946	34148843	121121717	95	120388											
TMEM47	83604	broad.mit.edu	37	chrX	34648573	34648573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttcaatgaacttgaTtgggtaaaggaccaggctgc	11	8	1	2			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chrX:34648573T>C	uc004ddh.2	-	3	662	c.403A>G	c.(403-405)ATC>GTC	p.I135V	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	135	Helical; (Potential).					integral to membrane				lung(1)	1						ATGAACTTGATTGGGTAAAGG	0.368													C	34648573	T	C	34648573	3	2	237	1	0	0	0	0	1	0	0	0	16168	1493	52	3	146	3	TMEM47	23	34648573	Missense_Mutation	SNP	T	TCGA-F1-6875-01A-11D-2053-08	499730	34648573	120621987	96	120389											
PFKFB1	5207	broad.mit.edu	37	chrX	54959866	54959866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacagtatccagggcTtcctcaggttcccgggtgat	14	11	1	1			TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chrX:54959866T>C	uc004dty.1	-	14	1457	c.1386A>G	c.(1384-1386)GAA>GAG	p.E462E	PFKFB1_uc010nkd.1_Silent_p.E270E|PFKFB1_uc011mol.1_Silent_p.E397E	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	462	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TATCCAGGGCTTCCTCAGGTT	0.547													C	54959866	T	C	54959866	2	2	237	1	0	0	0	0	0	0	0	1	11760	1606	56	3		3	PFKFB1	23	54959866	Silent	SNP	T	TCGA-F1-6875-01A-11D-2053-08	20311293	54959866	100310694	97	120390											
SLC6A8	6535	broad.mit.edu	37	chrX	152960203	152960203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaacgttgtgtactaCgagccgctggtctacaacaa	8	11	3	0	rs140601882		TCGA-F1-6875-01A-11D-2053-08	TCGA-F1-6875-11A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea1cac20-88c1-4257-9cdb-d2890eb2e123	f3a4fd8d-1f1c-48ab-854f-6717fd62c46c	g.chrX:152960203C>T	uc004fib.3	+	12	1904	c.1626C>T	c.(1624-1626)TAC>TAT	p.Y542Y	SLC6A8_uc004fic.3_Silent_p.Y532Y|SLC6A8_uc011myx.1_Silent_p.Y427Y|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	542	Extracellular (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TTGTGTACTACGAGCCGCTGG	0.483													T	152960203	C	T	152960203	2	4	237	1	0	0	0	0	0	0	0	1	14690	547	19	1		1	SLC6A8	23	152960203	Silent	SNP	C	TCGA-F1-6875-01A-11D-2053-08	98000337	152960203	2310357	98	120391											
AGRN	375790	broad.mit.edu	37	chr1	979719	979719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccaccctccaggtgtgCggctcagatggggtcaccta	12	14	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:979719C>T	uc001ack.1	+	12	2204	c.2154C>T	c.(2152-2154)TGC>TGT	p.C718C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	718	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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;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)		TCCAGGTGTGCGGCTCAGATG	0.687													T	979719	C	T	979719	2	4	238	1	0	0	0	0	0	0	0	1	397	776	27	1		1	AGRN	1	979719	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		979719	248270902	1	120392											
CHD5	26038	broad.mit.edu	37	chr1	6214827	6214827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctctacagccgcagccAccgccgccgccgctgctgcc	10	22	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:6214827A>G	uc001amb.1	-	5	738	c.638T>C	c.(637-639)GTG>GCG	p.V213A		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	213					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		Agccgcagccaccgccgccgc	0.532													G	6214827	A	G	6214827	3	3	238	1	0	0	0	0	1	0	0	0	3328	159	6	3	5374	3	CHD5	1	6214827	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	5235108	6214827	243035794	2	120393											
ZBTB48	3104	broad.mit.edu	37	chr1	6641353	6641353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctgcagggcggcagTaatgaggtactgtgcccagg	16	11	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:6641353T>C	uc009vmc.1	+	2	807	c.684T>C	c.(682-684)AGT>AGC	p.S228S	ZBTB48_uc001anx.2_Silent_p.S228S|ZBTB48_uc009vmd.1_Silent_p.S228S	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	228						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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;1.35e-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(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGCGGCAGTAATGAGGTAC	0.502													C	6641353	T	C	6641353	2	2	238	1	0	0	0	0	0	0	0	1	17546	1635	57	3		3	ZBTB48	1	6641353	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	426526	6641353	242609268	3	120394											
MASP2	10747	broad.mit.edu	37	chr1	11097870	11097870	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataagggcaaggctgcgcTgcgcagaggaaaccaggctt	16	9	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:11097870T>C	uc001aru.2	-	7	911	c.890_splice	c.e7-1	p.A297_splice		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform						complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	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)		AAGGCTGCGCTGCGCAGAGGA	0.473											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	11097870	T	C	11097870	5	2	238	1	0	0	0	0	0	0	1	0	9323	1594	55	3	1192	3	MASP2	1	11097870	Splice_Site	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	4456517	11097870	238152751	4	120395											
MFN2	9927	broad.mit.edu	37	chr1	12066617	12066617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgtcccatccctctgaCgccagccaaccccagcatgc	7	21	1	1	rs150304304		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:12066617C>T	uc001atn.3	+	16	2192	c.1739C>T	c.(1738-1740)ACG>ATG	p.T580M	MFN2_uc009vni.2_Missense_Mutation_p.T580M	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	580	Cytoplasmic (Potential).				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			ovary(1)	1	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)		ATCCCTCTGACGCCAGCCAAC	0.597													T	12066617	C	T	12066617	3	4	238	1	0	0	0	0	1	0	0	0	9524	536	19	1	1793	1	MFN2	1	12066617	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	968747	12066617	237184004	5	120396											
EPHA2	1969	broad.mit.edu	37	chr1	16464570	16464570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcactgttcgcaggtgaCgctgtagacaatgtcctcgc	11	13	0	2	rs150248625		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:16464570C>T	uc001aya.1	-	5	1227	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	EPHA2_uc010oca.1_Missense_Mutation_p.V364I	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	364	Extracellular (Potential).|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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	TCGCAGGTGACGCTGTAGACA	0.677													T	16464570	C	T	16464570	3	4	238	1	0	0	0	0	1	0	0	0	5167	536	19	1	1892	1	EPHA2	1	16464570	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4397953	16464570	232786051	6	120397											
ACTL8	81569	broad.mit.edu	37	chr1	18149788	18149788	+	Frame_Shift_Del	DEL	C	C	-													cacagacgggagcaagaggtCccccctgtgatcatcacgga							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:18149787_18149787TC>T	uc001bat.3	+	1	500	c.284_284TC>T	c.(283-285)gtcfs	p.V95fs		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	95						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)		GAGCAAGAGGTCCCCCCTGTG	0.622													-	18149788	C	-	18149788	7	5	238	1	0	1	0	1	0	0	0	0	202	842	30	0	287	0	ACTL8	1	18149788	Frame_Shift_Del	DEL	C	TCGA-F1-A448-01A-11D-A24D-08	1685218	18149788	231100833	7	120398											
ACTL8	81569	broad.mit.edu	37	chr1	18149808	18149808	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccccctgtgatcatcacggAgacacccttgagggagcctg	11	15	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:18149808A>T	uc001bat.2	+	2	521	c.305A>T	c.(304-306)GAG>GTG	p.E102V		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	102						cytoplasm|cytoskeleton				ovary(4)	4		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)		ATCATCACGGAGACACCCTTG	0.612													T	18149808	A	T	18149808	3	4	238	1	0	0	0	0	1	0	0	0	202	304	11	5	307	5	ACTL8	1	18149808	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	20	18149808	231100813	8	120399											
TAS1R2	80834	broad.mit.edu	37	chr1	19180859	19180859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttgaaggacaaggtggCgttcaggcagttgtcgcact	16	7	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19180859C>T	uc001bba.1	-	3	1106	c.1105G>A	c.(1105-1107)GCC>ACC	p.A369T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	369	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	GACAAGGTGGCGTTCAGGCAG	0.622													T	19180859	C	T	19180859	3	4	238	1	0	0	0	0	1	0	0	0	15560	768	27	1	1430	1	TAS1R2	1	19180859	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1031051	19180859	230069762	9	120400											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209681	19209681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttaaagggcgagatggcCgccacgaagccctggggaag	16	9	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19209681C>T	uc001bbb.2	-	7	891	c.615G>A	c.(613-615)GCG>GCA	p.A205A	ALDH4A1_uc010ocu.1_Silent_p.A145A|ALDH4A1_uc001bbc.2_Silent_p.A205A	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	205					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GCGAGATGGCCGCCACGAAGC	0.672													T	19209681	C	T	19209681	2	4	238	1	0	0	0	0	0	0	0	1	501	639	23	1		1	ALDH4A1	1	19209681	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	28822	19209681	230040940	10	120401											
UBR4	23352	broad.mit.edu	37	chr1	19426949	19426949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttatatccctcatcagcGgcccgatgcctggctcattg	8	14	4	0	rs144615268		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19426949G>A	uc001bbi.2	-	89	13146	c.13142C>T	c.(13141-13143)CCG>CTG	p.P4381L	UBR4_uc010ocv.1_5'Flank|UBR4_uc009vph.2_Missense_Mutation_p.P15L|UBR4_uc010ocw.1_Missense_Mutation_p.P72L|UBR4_uc001bbg.2_Missense_Mutation_p.P92L|UBR4_uc001bbh.2_Missense_Mutation_p.P90L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4381					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		CCTCATCAGCGGCCCGATGCC	0.522													A	19426949	G	A	19426949	3	1	238	1	0	0	0	0	1	0	0	0	16901	1116	39	1	2481	1	UBR4	1	19426949	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	217268	19426949	229823672	11	120402											
UBR4	23352	broad.mit.edu	37	chr1	19441953	19441953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagactcctgggttggcagGgaccgaggcactacagcgag	15	11	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:19441953G>A	uc001bbi.2	-	74	11006	c.11002C>T	c.(11002-11004)CCT>TCT	p.P3668S	UBR4_uc001bbj.1_Missense_Mutation_p.P83S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3668					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		GGGTTGGCAGGGACCGAGGCA	0.537													A	19441953	G	A	19441953	3	1	238	1	0	0	0	0	1	0	0	0	16901	1232	43	4	4681	4	UBR4	1	19441953	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	15004	19441953	229808668	12	120403											
ZBTB40	9923	broad.mit.edu	37	chr1	22817981	22817982	+	Frame_Shift_Ins	INS	-	-	A													tggttacccaggatgttttaINSaaaaaactagaaatgtgttc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:22817980_22817981T>TA	uc001bft.2	+	3	1296_1297	c.785_786T>TA	c.(784-786)ttafs	p.L262fs	ZBTB40_uc001bfu.2_Frame_Shift_Ins_p.L262fs|ZBTB40_uc009vqi.1_Frame_Shift_Ins_p.L262fs	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	262					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)		CAGGATGTTTTAAAAAAACTAG	0.381													A	22817982	-	A	22817981	7	5	238	1	0	1	1	0	0	0	0	0	17539	359	13	0	792	0	ZBTB40	1	22817981	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	3376028	22817981	226432640	13	120404											
RHD	6007	broad.mit.edu	37	chr1	25633166	25633166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgggtctgcttggagAgatcatctacattgtgctgc	12	9	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:25633166A>G	uc001bjz.2	+	7	1077	c.1019A>G	c.(1018-1020)GAG>GGG	p.E340G	RHD_uc010oep.1_Missense_Mutation_p.E340G|RHD_uc001bkc.2_Intron|RHD_uc009vrm.2_Missense_Mutation_p.E172G|RHD_uc001bka.2_Missense_Mutation_p.E340G|RHD_uc001bkb.2_Missense_Mutation_p.E340G|RHD_uc009vrn.2_Intron|RHD_uc009vro.2_Missense_Mutation_p.E340G|RHD_uc009vrp.2_Missense_Mutation_p.E340G|uc001bkd.1_5'Flank	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	340	Helical; (Potential).					integral to plasma membrane				breast(1)	1		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)		CTGCTTGGAGAGATCATCTAC	0.542													G	25633166	A	G	25633166	3	3	238	1	0	0	0	0	1	0	0	0	13327	304	11	3	1045	3	RHD	1	25633166	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	2815185	25633166	223617455	14	120405											
EIF2C1	26523	broad.mit.edu	37	chr1	36379836	36379836	+	Frame_Shift_Del	DEL	C	C	-													ctgggagcagatgttacacaCcccccagcaggggatgggaa					rs35257283		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:36379835_36379835AC>A	uc001bzl.3	+	13	2006	c.1793_1793AC>A	c.(1792-1794)cacfs	p.H598fs	EIF2C1_uc001bzk.3_Frame_Shift_Del_p.H523fs|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	598	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGTTACACACCCCCCAGCA	0.493													-	36379836	C	-	36379836	7	5	238	1	0	1	0	1	0	0	0	0	5005	506	18	0	1848	0	EIF2C1	1	36379836	Frame_Shift_Del	DEL	C	TCGA-F1-A448-01A-11D-A24D-08	10746670	36379836	212870785	15	120406											
MAP7D1	55700	broad.mit.edu	37	chr1	36636626	36636627	+	Frame_Shift_Ins	INS	-	-	C													tctccagaaggtgacccttcINSccccccaccaccaccaatgt							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:36636625_36636626T>TC	uc001bzz.3	+	1	316_317	c.100_101T>TC	c.(100-102)tccfs	p.S34fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.S34fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.S34fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	34	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)				AGGTGACCCTTCCCCCCCACCA	0.594													C	36636627	-	C	36636626	7	5	238	1	0	1	1	0	0	0	0	0	9267	855	30	0	107	0	MAP7D1	1	36636626	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	256790	36636626	212613995	16	120407											
MACF1	23499	broad.mit.edu	37	chr1	39914433	39914433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtggcaagtctgtggaGcggtgagcatgaatgtcccc	15	8	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:39914433G>T	uc010oiu.1	+	49	15716	c.15585G>T	c.(15583-15585)GAG>GAT	p.E5195D	MACF1_uc010ois.1_Missense_Mutation_p.E4693D	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			AGTCTGTGGAGCGGTGAGCAT	0.433													T	39914433	G	T	39914433	3	4	238	1	0	0	0	0	1	0	0	0	9144	962	34	5	20548	5	MACF1	1	39914433	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3277807	39914433	209336188	17	120408											
MACF1	23499	broad.mit.edu	37	chr1	39926343	39926343	+	Frame_Shift_Del	DEL	A	A	-													ttgactttgatgtctggaggAaaaagtatatgcgttggatg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:39926342_39926342GA>G	uc021olw.1	+	56	16728	c.16728_16728GA>G	c.(16726-16728)aggfs	p.R5576fs	MACF1_uc021ols.1_Frame_Shift_Del_p.R5071fs|MACF1_uc021olt.1_Frame_Shift_Del_p.R5074fs|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7032					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.W5575R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGTCTGGAGGAAAAAGTATA	0.413													-	39926343	A	-	39926343	7	5	238	1	0	1	0	1	0	0	0	0	9144	247	9	0	21724	0	MACF1	1	39926343	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	11910	39926343	209324278	18	120409											
RIMKLA	284716	broad.mit.edu	37	chr1	42865221	42865221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttggtcaatcgcccacagAgcatcttaaattgcatcaac	8	11	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:42865221A>C	uc001chi.2	+	2	448	c.310A>C	c.(310-312)AGC>CGC	p.S104R		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	104					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TCGCCCACAGAGCATCTTAAA	0.537													C	42865221	A	C	42865221	3	2	238	1	0	0	0	0	1	0	0	0	13365	304	11	5	316	5	RIMKLA	1	42865221	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	2938878	42865221	206385400	19	120410											
HYI	81888	broad.mit.edu	37	chr1	43917616	43917616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcgtaccctgctggggCgtgtccaggaagtactgggg	19	9	0	0	rs139460802	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:43917616C>T	uc001cjo.2	-	4	665	c.495G>A	c.(493-495)ACG>ACA	p.T165T	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Silent_p.T92T|HYI_uc001cjn.2_Silent_p.T165T|HYI_uc001cjp.2_Silent_p.T92T	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	165							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGCTGGGGCGTGTCCAGGA	0.602													T	43917616	C	T	43917616	2	4	238	1	0	0	0	0	0	0	0	1	7468	755	27	1		1	HYI	1	43917616	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1052395	43917616	205333005	20	120411											
HECTD3	79654	broad.mit.edu	37	chr1	45473239	45473239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggcctggccgctggCgggacagcagtaggaactgc	15	14	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:45473239C>T	uc009vxk.2	-	10	1447	c.1349G>A	c.(1348-1350)CGC>CAC	p.R450H	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.R60H|HECTD3_uc010olh.1_Missense_Mutation_p.R166H	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	450					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					TGGCCGCTGGCGGGACAGCAG	0.612													T	45473239	C	T	45473239	3	4	238	1	0	0	0	0	1	0	0	0	7041	768	27	1	1284	1	HECTD3	1	45473239	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1555623	45473239	203777382	21	120412											
C1orf190	541468	broad.mit.edu	37	chr1	46685444	46685444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcatcgaggcagtgcGctggctgttggaggagcggg	21	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:46685444G>A	uc010oma.1	+	2	365	c.272G>A	c.(271-273)CGC>CAC	p.R91H	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	91					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					GAGGCAGTGCGCTGGCTGTTG	0.602													A	46685444	G	A	46685444	3	1	238	1	0	0	0	0	1	0	0	0	2023	1087	38	1	278	1	C1orf190	1	46685444	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1212205	46685444	202565177	22	120413											
ZYG11B	79699	broad.mit.edu	37	chr1	53250615	53250615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggctgcaagcgcctgtGtatttaacttaaccaagcag	9	10	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:53250615G>A	uc001cuj.2	+	5	1354	c.1159G>A	c.(1159-1161)GTA>ATA	p.V387I	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.V378I	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	387							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AAGCGCCTGTGTATTTAACTT	0.463													A	53250615	G	A	53250615	3	1	238	1	0	0	0	0	1	0	0	0	18250	1377	48	4	1177	4	ZYG11B	1	53250615	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	6565171	53250615	196000006	23	120414											
INSL5	10022	broad.mit.edu	37	chr1	67266795	67266795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctagcacagatatagatgActgtccgtatgtattctagc	9	8	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:67266795A>G	uc001dcw.2	-	1	145	c.110T>C	c.(109-111)GTC>GCC	p.V37A		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	insulin-like 5 precursor	37						extracellular region	hormone activity				0						GATATAGATGACTGTCCGTAT	0.463													G	67266795	A	G	67266795	3	3	238	1	0	0	0	0	1	0	0	0	7769	275	10	3	305	3	INSL5	1	67266795	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	14016180	67266795	181983826	24	120415											
GCLM	2730	broad.mit.edu	37	chr1	94354581	94354581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagcttgtaaaatgtagcCttttgatttgataattcctc	6	6	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:94354581C>A	uc001dqg.1	-	7	1083	c.790G>T	c.(790-792)GGC>TGC	p.G264C		NM_002061	NP_002052	P48507	GSH0_HUMAN	glutamate-cysteine ligase regulatory protein	264					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			ovary(1)	1		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AAAATGTAGCCTTTTGATTTG	0.398													A	94354581	C	A	94354581	3	1	238	1	0	0	0	0	1	0	0	0	6296	681	24	5	38	5	GCLM	1	94354581	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	27087786	94354581	154896040	25	120416											
FAM19A3	284467	broad.mit.edu	37	chr1	113266684	113266684	+	Frame_Shift_Del	DEL	G	G	-													cagatggagccctgcctgccGggggaggagtgtaaggtgct							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:113266683_113266683CG>C	uc001ecu.3	+	3	451	c.382_382CG>C	c.(382-384)cggfs	p.R128fs	FAM19A3_uc001ecv.3_Frame_Shift_Del_p.P105fs|FAM19A3_uc010owk.2_Non-coding_Transcript|FAM19A3_uc010owl.2_Non-coding_Transcript	NM_001004440	NP_001004440	Q7Z5A8	F19A3_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 (FAM19A3), transcript variant 2, mRNA.	0						extracellular region				lung(4)|ovary(1)	5	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)		CCCTGCCTGCCGGGGGAGGAG	0.622													-	113266684	G	-	113266684	7	5	238	1	0	1	0	1	0	0	0	0	5533	1116	39	0	393	0	FAM19A3	1	113266684	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	18912103	113266684	135983937	26	120417											
CHD1L	9557	broad.mit.edu	37	chr1	146756150	146756150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagctagtcaagagggccGatcactccgaaataaaggca	11	9	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:146756150G>A	uc001epm.3	+	16	1895	c.1832G>A	c.(1831-1833)CGA>CAA	p.R611Q	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R498Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R517Q|CHD1L_uc010ozp.1_Missense_Mutation_p.R330Q|CHD1L_uc001epo.3_Missense_Mutation_p.R407Q|CHD1L_uc010ozq.1_Missense_Mutation_p.R184Q|CHD1L_uc009wji.2_Missense_Mutation_p.R330Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	611					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					CAAGAGGGCCGATCACTCCGA	0.348													A	146756150	G	A	146756150	3	1	238	1	0	0	0	0	1	0	0	0	3324	1058	37	1	1894	1	CHD1L	1	146756150	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	33489466	146756150	102494471	27	120418											
OTUD7B	56957	broad.mit.edu	37	chr1	149931626	149931626	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagttggctccattggtAcctagatgcattcggggttc	11	11	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:149931626A>G	uc001etn.2	-	7	1178	c.822T>C	c.(820-822)GGT>GGC	p.G274G		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	274	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	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)			CTCCATTGGTACCTAGATGCA	0.512													G	149931626	A	G	149931626	2	3	238	1	0	0	0	0	0	0	0	1	11319	378	14	3		3	OTUD7B	1	149931626	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	3175476	149931626	99318995	28	120419											
SPRR4	163778	broad.mit.edu	37	chr1	152944416	152944416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagtgcccaccccagaGggcccagcagcagcaagtga	13	15	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:152944416G>A	uc001fav.1	+	2	113	c.50G>A	c.(49-51)AGG>AAG	p.R17K		NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	17	Gln-rich.				keratinization|peptide cross-linking	cell cortex					0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCCCAGAGGGCCCAGCAG	0.488													A	152944416	G	A	152944416	3	1	238	1	0	0	0	0	1	0	0	0	15103	1000	35	4	52	4	SPRR4	1	152944416	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3012790	152944416	96306205	29	120420											
S100A2	6273	broad.mit.edu	37	chr1	153536279	153536279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactcagcttgaacttgtcGccctcttggcaggagtactt	9	11	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:153536279G>A	uc001fcb.2	-	2	410	c.72C>T	c.(70-72)GGC>GGT	p.G24G		NM_005978	NP_005969	P29034	S10A2_HUMAN	S100 calcium binding protein A2	25	1; low affinity (Potential).|EF-hand 1.				endothelial cell migration		calcium ion binding			ovary(1)	1	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAACTTGTCGCCCTCTTGGC	0.582													A	153536279	G	A	153536279	2	1	238	1	0	0	0	0	0	0	0	1	13778	1074	38	1		1	S100A2	1	153536279	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	591863	153536279	95714342	30	120421											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988858	154988858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctgtgccacaaggctttCgccaaggaggaccacctgca	10	15	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:154988858C>T	uc001fgk.3	+	4	1475	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	ZBTB7B_uc009wpa.2_Silent_p.F439F|ZBTB7B_uc001fgj.3_Silent_p.F473F|ZBTB7B_uc010peq.1_Silent_p.F473F|ZBTB7B_uc001fgl.3_Silent_p.F439F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	439	C2H2-type 4; atypical.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			ACAAGGCTTTCGCCAAGGAGG	0.647													T	154988858	C	T	154988858	2	4	238	1	0	0	0	0	0	0	0	1	17551	883	31	1		1	ZBTB7B	1	154988858	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1452579	154988858	94261763	31	120422											
ASH1L	55870	broad.mit.edu	37	chr1	155491309	155491309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcagtatttctagggtccAtcacaagcgtatgttattgc	9	8	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:155491309A>G	uc009wqq.2	-	2	482	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ASH1L_uc001fkt.2_Missense_Mutation_p.M1T|ASH1L_uc009wqr.1_Missense_Mutation_p.M1T	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TCTAGGGTCCATCACAAGCGT	0.393													G	155491309	A	G	155491309	3	3	238	1	0	0	0	0	1	0	0	0	1041	217	8	3	9000	3	ASH1L	1	155491309	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	502451	155491309	93759312	32	120423											
NES	10763	broad.mit.edu	37	chr1	156642793	156642793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctacagcaggagagggtGcctgaggtgtgggggggatg	20	6	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:156642793G>A	uc001fpq.2	-	4	1320	c.1187C>T	c.(1186-1188)GCA>GTA	p.A396V		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	396	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			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGAGAGGGTGCCTGAGGTGT	0.607													A	156642793	G	A	156642793	3	1	238	1	0	0	0	0	1	0	0	0	10337	1319	46	2	3682	2	NES	1	156642793	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1151484	156642793	92607828	33	120424											
OR10K2	391107	broad.mit.edu	37	chr1	158390265	158390265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccattagcactgagtagCgcagtgggttacagatggct	13	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:158390265C>T	uc010pii.1	-	1	392	c.392G>A	c.(391-393)CGC>CAC	p.R131H		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CACTGAGTAGCGCAGTGGGTT	0.502													T	158390265	C	T	158390265	3	4	238	1	0	0	0	0	1	0	0	0	10914	768	27	1	548	1	OR10K2	1	158390265	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1747472	158390265	90860356	34	120425											
CADM3	57863	broad.mit.edu	37	chr1	159166166	159166166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagacacaccaactgCgatgattaggccagaccctc	7	16	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:159166166C>T	uc001ftl.2	+	6	846	c.704C>T	c.(703-705)GCG>GTG	p.A235V	CADM3_uc009wsy.1_Missense_Mutation_p.A189V|CADM3_uc001ftk.2_Missense_Mutation_p.A269V	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	235	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					ACACCAACTGCGATGATTAGG	0.517											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	159166166	C	T	159166166	3	4	238	1	0	0	0	0	1	0	0	0	2568	768	27	1	832	1	CADM3	1	159166166	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	775901	159166166	90084455	35	120426											
DUSP27	92235	broad.mit.edu	37	chr1	167096392	167096392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcgctgatggggacaCgacgtcagtactgagcaccc	13	12	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:167096392C>T	uc001geb.1	+	5	2024	c.2024C>T	c.(2023-2025)ACG>ATG	p.T675M		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	675					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GATGGGGACACGACGTCAGTA	0.632													T	167096392	C	T	167096392	3	4	238	1	0	0	0	0	1	0	0	0	4824	536	19	1	2042	1	DUSP27	1	167096392	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7930226	167096392	82154229	36	120427											
BAT2L2	23215	broad.mit.edu	37	chr1	171510344	171510344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagaagaaagtgaaacaCggagtgagagctctgatttt	13	5	1	5			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:171510344C>T	uc010pmg.1	+	16	3999	c.3733C>T	c.(3733-3735)CGG>TGG	p.R1245W	BAT2L2_uc010pmh.1_Missense_Mutation_p.R222W	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1245							protein C-terminus binding				0						AAGTGAAACACGGAGTGAGAG	0.468													T	171510344	C	T	171510344	3	4	238	1	0	0	0	0	1	0	0	0	1321	527	19	1	3791	1	BAT2L2	1	171510344	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4413952	171510344	77740277	37	120428											
DNM3	26052	broad.mit.edu	37	chr1	171810899	171810899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggagctgccgcagatcGccgtggtgggcggccagagc	18	12	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:171810899G>A	uc001gie.2	+	1	279	c.103G>A	c.(103-105)GCC>ACC	p.A35T	DNM3_uc001gid.3_Missense_Mutation_p.A35T|DNM3_uc009wwb.2_Missense_Mutation_p.A35T|DNM3_uc001gif.2_Missense_Mutation_p.A35T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	35					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						GCCGCAGATCGCCGTGGTGGG	0.687													A	171810899	G	A	171810899	3	1	238	1	0	0	0	0	1	0	0	0	4673	1087	38	1	105	1	DNM3	1	171810899	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	300555	171810899	77439722	38	120429											
TNFSF4	7292	broad.mit.edu	37	chr1	173155859	173155859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccttctggtaatgaagGctaatgttgacttcctggga	10	8	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:173155859G>A	uc001giw.2	-	3	504	c.348C>T	c.(346-348)AGC>AGT	p.S116S	TNFSF4_uc001giv.2_Silent_p.S66S	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	116	Extracellular (Potential).				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			central_nervous_system(1)	1						GGTAATGAAGGCTAATGTTGA	0.458													A	173155859	G	A	173155859	2	1	238	1	0	0	0	0	0	0	0	1	16307	1194	42	2		2	TNFSF4	1	173155859	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1344960	173155859	76094762	39	120430											
TNR	7143	broad.mit.edu	37	chr1	175306748	175306748	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggaagatggggtaaacCccactcaaagtgtctccatt	10	9	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:175306748C>A	uc001gkp.1	-	17	3531	c.3450G>T	c.(3448-3450)GGG>GGT	p.G1150G	TNR_uc009wwu.1_Silent_p.G1150G	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1150	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGGGTAAACCCCACTCAAAG	0.502													A	175306748	C	A	175306748	2	1	238	1	0	0	0	0	0	0	0	1	16335	610	22	5		5	TNR	1	175306748	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2150889	175306748	73943873	40	120431											
TPR	7175	broad.mit.edu	37	chr1	186326529	186326529	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtatgtgactacttacTtggatgaagttgtttcttgt	11	4	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:186326529T>G	uc001grv.2	-	14	2021	c.1724A>C	c.(1723-1725)AAA>ACA	p.K575T	TPR_uc010pop.1_Missense_Mutation_p.K651T	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	575	Potential.				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			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		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)		GACTACTTACTTGGATGAAGT	0.294			T	NTRK1	papillary thyroid								G	186326529	T	G	186326529	3	3	238	1	0	0	0	0	1	0	0	0	16413	1623	56	5	5519	5	TPR	1	186326529	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	11019781	186326529	62924092	41	120432											
CFH	3075	broad.mit.edu	37	chr1	196642190	196642190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatatccagaaggcacccaGgctatctataaatgccgccc	7	14	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:196642190G>T	uc001gtj.3	+	2	381	c.141G>T	c.(139-141)CAG>CAT	p.Q47H	CFH_uc001gti.3_Missense_Mutation_p.Q47H|CFH_uc009wyw.2_Missense_Mutation_p.Q47H|CFH_uc009wyx.2_Missense_Mutation_p.Q47H	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	47	Sushi 1.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AAGGCACCCAGGCTATCTATA	0.398													T	196642190	G	T	196642190	3	4	238	1	0	0	0	0	1	0	0	0	3283	991	35	5	147	5	CFH	1	196642190	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	10315661	196642190	52608431	42	120433											
NR5A2	2494	broad.mit.edu	37	chr1	200017345	200017345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggaataagtttgggcCaatgtacaagagagacaggg	15	4	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:200017345C>T	uc001gvb.2	+	5	715	c.509C>T	c.(508-510)CCA>CTA	p.P170L	NR5A2_uc001gvc.2_Missense_Mutation_p.P124L|NR5A2_uc009wzh.2_Missense_Mutation_p.P130L|NR5A2_uc010pph.1_Missense_Mutation_p.P98L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	170	FTZ-F1 box.			GP->VA: Reduced DNA binding. Loss of transactivation.	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			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					AAGTTTGGGCCAATGTACAAG	0.502													T	200017345	C	T	200017345	3	4	238	1	0	0	0	0	1	0	0	0	10636	594	21	4	527	4	NR5A2	1	200017345	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3375155	200017345	49233276	43	120434											
PKP1	5317	broad.mit.edu	37	chr1	201289462	201289462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcattgattccctcAtggcctatgtccagaactgt	9	12	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:201289462A>G	uc001gwd.2	+	8	1614	c.1363A>G	c.(1363-1365)ATG>GTG	p.M455V	PKP1_uc001gwe.2_Missense_Mutation_p.M434V|PKP1_uc009wzm.2_Missense_Mutation_p.M42V	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	455	ARM 5.				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			ovary(2)	2						TGATTCCCTCATGGCCTATGT	0.512													G	201289462	A	G	201289462	3	3	238	1	0	0	0	0	1	0	0	0	11984	217	8	3	1393	3	PKP1	1	201289462	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1272117	201289462	47961159	44	120435											
TNNT2	7139	broad.mit.edu	37	chr1	201334426	201334426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttctccatgcgcttccGgtggatgtcctgtgggtgga	14	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:201334426G>A	uc001gwf.2	-	10	373	c.304C>T	c.(304-306)CGG>TGG	p.R102W	TNNT2_uc001gwg.2_Missense_Mutation_p.R92W|TNNT2_uc001gwh.2_Missense_Mutation_p.R87W|TNNT2_uc001gwi.2_Intron|TNNT2_uc009wzr.2_Missense_Mutation_p.R33W|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.R67W|TNNT2_uc001gwk.1_Missense_Mutation_p.R33W|TNNT2_uc009wzt.1_Missense_Mutation_p.R92W	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	102			R -> Q (in CMH2).|R -> W (in CMH2).|R -> L (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|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0						ATGCGCTTCCGGTGGATGTCC	0.572													A	201334426	G	A	201334426	3	1	238	1	0	0	0	0	1	0	0	0	16328	1115	39	1	627	1	TNNT2	1	201334426	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	44964	201334426	47916195	45	120436											
IPO9	55705	broad.mit.edu	37	chr1	201821312	201821312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgtataagatcttcaccAtggctgaggtatgaaatctc	9	7	3	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:201821312A>G	uc001gwz.2	+	5	645	c.595A>G	c.(595-597)ATG>GTG	p.M199V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	199					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						GATCTTCACCATGGCTGAGGT	0.438													G	201821312	A	G	201821312	3	3	238	1	0	0	0	0	1	0	0	0	7799	217	8	3	613	3	IPO9	1	201821312	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	486886	201821312	47429309	46	120437											
KDM5B	10765	broad.mit.edu	37	chr1	202702680	202702680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggttctttcaatcatatatCgaagtgcatctccctcagga	7	11	5	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:202702680C>T	uc001gyf.2	-	23	3874	c.3758G>A	c.(3757-3759)CGA>CAA	p.R1253Q	KDM5B_uc009xag.2_Missense_Mutation_p.R1289Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R1095Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1253					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			ovary(2)|breast(2)|urinary_tract(1)	5						AATCATATATCGAAGTGCATC	0.507													T	202702680	C	T	202702680	3	4	238	1	0	0	0	0	1	0	0	0	8134	884	31	1	896	1	KDM5B	1	202702680	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	881368	202702680	46547941	47	120438											
ADORA1	134	broad.mit.edu	37	chr1	203098016	203098016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcctacatcggcatcgAggtgctcatcgccctggtct	12	15	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:203098016A>G	uc001gze.1	+	3	480	c.47A>G	c.(46-48)GAG>GGG	p.E16G	ADORA1_uc001gzf.1_Missense_Mutation_p.E16G|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.E49G	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	16	Helical; Name=1; (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATCGGCATCGAGGTGCTCATC	0.652													G	203098016	A	G	203098016	3	3	238	1	0	0	0	0	1	0	0	0	326	304	11	3	49	3	ADORA1	1	203098016	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	395336	203098016	46152605	48	120439											
OPTC	26254	broad.mit.edu	37	chr1	203468789	203468789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctcagcaaagttgaagaGgattgacctctccaacaacc	7	12	3	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:203468789G>T	uc001gzu.1	+	5	658	c.542G>T	c.(541-543)AGG>ATG	p.R181M		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	181	LRR 2.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGTTGAAGAGGATTGACCTC	0.502													T	203468789	G	T	203468789	3	4	238	1	0	0	0	0	1	0	0	0	10888	1000	35	5	556	5	OPTC	1	203468789	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	370773	203468789	45781832	49	120440											
RBBP5	5929	broad.mit.edu	37	chr1	205069381	205069381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgattattcgatctgcCgtgttaattaaaaagcaact	6	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:205069381C>T	uc001hbu.1	-	7	781	c.651G>A	c.(649-651)ACG>ACA	p.T217T	RBBP5_uc010prd.1_Silent_p.T252T|RBBP5_uc001hbv.1_Silent_p.T217T|RBBP5_uc010pre.1_Silent_p.T84T	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	217	WD 4.				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			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCGATCTGCCGTGTTAATTA	0.378													T	205069381	C	T	205069381	2	4	238	1	0	0	0	0	0	0	0	1	13102	639	23	1		1	RBBP5	1	205069381	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1600592	205069381	44181240	50	120441											
TMCC2	9911	broad.mit.edu	37	chr1	205238926	205238926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaggagggacagtctcaCctggaggactccatggaaga	13	9	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:205238926C>T	uc001hbz.1	+	4	2040	c.1596C>T	c.(1594-1596)CAC>CAT	p.H532H	TMCC2_uc010prf.1_Silent_p.H454H|TMCC2_uc001hca.2_Silent_p.H307H|TMCC2_uc001hcb.1_Silent_p.H292H|TMCC2_uc001hcc.1_Silent_p.H153H|TMCC2_uc001hcd.2_Silent_p.H299H	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	532	Potential.					integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GACAGTCTCACCTGGAGGACT	0.592													T	205238926	C	T	205238926	2	4	238	1	0	0	0	0	0	0	0	1	15990	506	18	4		4	TMCC2	1	205238926	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	169545	205238926	44011695	51	120442											
FCAMR	83953	broad.mit.edu	37	chr1	207131973	207131973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcttgggggttcactTccagaaaatgtgtcatctga	12	8	4	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:207131973T>C	uc001hfa.3	-	8	2122	c.1622A>G	c.(1621-1623)GAA>GGA	p.E541G	FCAMR_uc001hfb.2_3'UTR|FCAMR_uc009xca.1_3'UTR|FCAMR_uc001hfc.2_Missense_Mutation_p.E516G	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	496	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						GGGGTTCACTTCCAGAAAATG	0.537													C	207131973	T	C	207131973	3	2	238	1	0	0	0	0	1	0	0	0	5772	1783	62	3	115	3	FCAMR	1	207131973	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1893047	207131973	42118648	52	120443											
KCNH1	3756	broad.mit.edu	37	chr1	211192542	211192542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagatgatgtgagggggAgtctttggtgcctcttgctt	15	5	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:211192542A>G	uc001hib.2	-	6	785	c.615T>C	c.(613-615)ACT>ACC	p.T205T	KCNH1_uc001hic.2_Silent_p.T205T	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	205	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGTGAGGGGGAGTCTTTGGTG	0.433													G	211192542	A	G	211192542	2	3	238	1	0	0	0	0	0	0	0	1	8031	291	11	3		3	KCNH1	1	211192542	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	4060569	211192542	38058079	53	120444											
USH2A	7399	broad.mit.edu	37	chr1	215820962	215820962	+	Frame_Shift_Del	DEL	C	C	-													atgtggtgtagggctggagaCccccaaggctggctttctgc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:215820961_215820961AC>A	uc001hku.1	-	66	15081	c.14694_14694GT>T	c.(14692-14694)ggtfs	p.G4898fs		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4898	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)		AGGGCTGGAGACCCCCAAGGC	0.562										HNSCC(13;0.011)			-	215820962	C	-	215820962	7	5	238	1	0	1	0	1	0	0	0	0	17033	507	18	0	939	0	USH2A	1	215820962	Frame_Shift_Del	DEL	C	TCGA-F1-A448-01A-11D-A24D-08	4628420	215820962	33429659	54	120445											
CABC1	56997	broad.mit.edu	37	chr1	227169738	227169738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccacagggaagaaggcCgtgctgggttccagtccttt	13	13	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:227169738C>T	uc001hqm.1	+	11	4160	c.741C>T	c.(739-741)GCC>GCT	p.A247A	CABC1_uc001hqn.1_Silent_p.A247A|CABC1_uc009xeq.1_Silent_p.A195A|CABC1_uc010pvq.1_5'UTR|CABC1_uc010pvr.1_5'UTR|CABC1_uc001hqo.1_5'UTR|CABC1_uc009xer.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	247					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				GGAAGAAGGCCGTGCTGGGTT	0.657													T	227169738	C	T	227169738	2	4	238	1	0	0	0	0	0	0	0	1	2527	639	23	1		1	CABC1	1	227169738	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	11348776	227169738	22080883	55	120446											
LYST	1130	broad.mit.edu	37	chr1	235969041	235969041	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggactaaggacaaggtattAcctgattaggtaactccaat	9	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:235969041A>G	uc001hxj.2	-	6	3568	c.3393_splice	c.e6+1	p.Q1131_splice	LYST_uc009xgb.1_Splice_Site|LYST_uc010pxs.1_Splice_Site|LYST_uc001hxl.1_Splice_Site_p.Q1131_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator						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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			ACAAGGTATTACCTGATTAGG	0.269									Chediak-Higashi_syndrome				G	235969041	A	G	235969041	5	3	238	1	0	0	0	0	0	0	1	0	9128	405	14	3	8202	3	LYST	1	235969041	Splice_Site	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	8799303	235969041	13281580	56	120447											
ERO1LB	56605	broad.mit.edu	37	chr1	236406753	236406753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtgatcccgtgaatcAtcatatcttgcccagtcaat	6	11	4	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:236406753A>G	uc001hxt.2	-	6	730	c.474T>C	c.(472-474)GAT>GAC	p.D158D	ERO1LB_uc010pxt.1_Intron	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	158					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				0	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)			CCCGTGAATCATCATATCTTG	0.269													G	236406753	A	G	236406753	2	3	238	1	0	0	0	0	0	0	0	1	5240	214	8	3		3	ERO1LB	1	236406753	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	437712	236406753	12843868	57	120448											
ZNF496	84838	broad.mit.edu	37	chr1	247464167	247464167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaggtgggagttcaggCggaagctcttcccgcaggca	16	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:247464167C>T	uc001ico.2	-	9	1883	c.1418G>A	c.(1417-1419)CGC>CAC	p.R473H	ZNF496_uc009xgv.2_Missense_Mutation_p.R509H|ZNF496_uc001icp.2_Missense_Mutation_p.R473H	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	473	C2H2-type 3.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			GGAGTTCAGGCGGAAGCTCTT	0.662													T	247464167	C	T	247464167	3	4	238	1	0	0	0	0	1	0	0	0	17942	768	27	1	349	1	ZNF496	1	247464167	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	11057414	247464167	1786454	58	120449											
OR6F1	343169	broad.mit.edu	37	chr1	247875693	247875693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagcagatggcaagacagCggtcataagccatggctgcc	13	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr1:247875693C>T	uc001idj.1	-	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			GGCAAGACAGCGGTCATAAGC	0.517													T	247875693	C	T	247875693	3	4	238	1	0	0	0	0	1	0	0	0	11201	768	27	1	565	1	OR6F1	1	247875693	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	411526	247875693	1374928	59	120450											
TTC15	51112	broad.mit.edu	37	chr2	3392267	3392267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtttgcagggagtgaCgacccctttgccaccgccct	12	14	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:3392267C>T	uc002qxm.1	+	2	1079	c.873C>T	c.(871-873)GAC>GAT	p.D291D	TTC15_uc002qxn.1_Silent_p.D291D|TTC15_uc010ewm.1_Silent_p.D291D|TTC15_uc002qxl.1_Silent_p.D291D	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	291							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CAGGGAGTGACGACCCCTTTG	0.711													T	3392267	C	T	3392267	2	4	238	1	0	0	0	0	0	0	0	1	16679	535	19	1		1	TTC15	2	3392267	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		3392267	239807106	60	120451											
KIDINS220	57498	broad.mit.edu	37	chr2	8946399	8946399	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaatataagatacttAcagctccttcttgatccaca	3	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:8946399A>G	uc002qzc.2	-	7	785	c.603_splice	c.e7+1	p.A201_splice	KIDINS220_uc010yiv.1_Splice_Site_p.A10_splice|KIDINS220_uc002qzd.2_Splice_Site_p.A159_splice|KIDINS220_uc010yiw.1_Splice_Site_p.A202_splice	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAGATACTTACAGCTCCTTC	0.368													G	8946399	A	G	8946399	5	3	238	1	0	0	0	0	0	0	1	0	8271	405	14	3	4806	3	KIDINS220	2	8946399	Splice_Site	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	5554132	8946399	234252974	61	120452											
TAF1B	9014	broad.mit.edu	37	chr2	10059231	10059231	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaaaccagtagcatatAaaaaaagaggtaagtcaaat	7	6	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:10059231A>T	uc002qzz.2	+	13	1433	c.1333A>T	c.(1333-1335)AAA>TAA	p.K445*	TAF1B_uc002qzy.3_Nonsense_Mutation_p.K445*|TAF1B_uc010yja.1_Nonsense_Mutation_p.K190*|TAF1B_uc010exd.2_Nonsense_Mutation_p.K190*	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	445					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			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGTAGCATATAAAAAAAGAGG	0.353													T	10059231	A	T	10059231	4	4	238	1	0	0	0	0	0	1	0	0	15517	363	13	5	1383	5	TAF1B	2	10059231	Nonsense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1112832	10059231	233140142	62	120453											
WDR35	57539	broad.mit.edu	37	chr2	20173358	20173358	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaactgcacaatgttcAcatctttgtcctgcatggct	7	10	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:20173358A>G	uc002rdi.2	-	8	956	c.848T>C	c.(847-849)GTG>GCG	p.V283A	WDR35_uc002rdj.2_Missense_Mutation_p.V283A|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	283										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAATGTTCACATCTTTGTC	0.443													G	20173358	A	G	20173358	3	3	238	1	0	0	0	0	1	0	0	0	17286	159	6	3	2781	3	WDR35	2	20173358	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	10114127	20173358	223026015	63	120454											
ADCY3	109	broad.mit.edu	37	chr2	25057796	25057796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggttggggaatgaggGgttgtcggcctgtgagccag	21	6	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:25057796G>A	uc002rfs.3	-	9	1871	c.1672C>T	c.(1672-1674)CCC>TCC	p.P558S	ADCY3_uc002rfr.3_Missense_Mutation_p.P191S|ADCY3_uc010ykm.1_Missense_Mutation_p.P558S	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	558	Cytoplasmic (Potential).				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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGGAATGAGGGGTTGTCGGCC	0.622													A	25057796	G	A	25057796	3	1	238	1	0	0	0	0	1	0	0	0	295	1232	43	4	1814	4	ADCY3	2	25057796	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4884438	25057796	218141577	64	120455											
IFT172	26160	broad.mit.edu	37	chr2	27683910	27683910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcgttgcctttacggtaGcactccagggccttctgtgg	12	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:27683910G>A	uc002rku.2	-	23	2544	c.2493C>T	c.(2491-2493)TGC>TGT	p.C831C		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	831	TPR 3.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTTTACGGTAGCACTCCAGGG	0.453													A	27683910	G	A	27683910	2	1	238	1	0	0	0	0	0	0	0	1	7557	963	34	2		2	IFT172	2	27683910	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2626114	27683910	215515463	65	120456											
ALK	238	broad.mit.edu	37	chr2	29456558	29456558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactttctggattaactggTttgtctgtagaaacaaaaag	9	5	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:29456558T>C	uc002rmy.2	-	14	3267	c.2360A>G	c.(2359-2361)AAC>AGC	p.N787S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	787	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GATTAACTGGTTTGTCTGTAG	0.418			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				C	29456558	T	C	29456558	3	2	238	1	0	0	0	0	1	0	0	0	525	1725	60	3	2566	3	ALK	2	29456558	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1772648	29456558	213742815	66	120457											
ALK	238	broad.mit.edu	37	chr2	30143119	30143119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaactgcttggcacgcCggagcttgcgcacggagccg	14	15	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:30143119C>T	uc002rmy.2	-	1	1314	c.407G>A	c.(406-408)CGG>CAG	p.R136Q		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	136	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTTGGCACGCCGGAGCTTGCG	0.731			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	30143119	C	T	30143119	3	4	238	1	0	0	0	0	1	0	0	0	525	652	23	1	4571	1	ALK	2	30143119	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	686561	30143119	213056254	67	120458											
EHD3	30845	broad.mit.edu	37	chr2	31457553	31457553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggttttccagacggtgagTgaggggctcaagaaactcta	14	7	2	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:31457553T>C	uc002rnu.2	+	1	674	c.66T>C	c.(64-66)AGT>AGC	p.S22S	EHD3_uc010ymt.1_Silent_p.S22S	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	22					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			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					AGACGGTGAGTGAGGGGCTCA	0.652													C	31457553	T	C	31457553	2	2	238	1	0	0	0	0	0	0	0	1	4979	1693	59	3		3	EHD3	2	31457553	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1314434	31457553	211741820	68	120459											
SLC8A1	6546	broad.mit.edu	37	chr2	40655876	40655876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcaagcaagtgtagaAacatgattggcttccagtat	11	8	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:40655876A>G	uc002rrx.2	-	1	1569	c.1545T>C	c.(1543-1545)GTT>GTC	p.V515V	SLC8A1_uc002rry.2_Silent_p.V515V|SLC8A1_uc002rrz.2_Silent_p.V515V|SLC8A1_uc002rsa.2_Silent_p.V515V|SLC8A1_uc002rsd.3_Silent_p.V515V|SLC8A1_uc002rsb.1_Silent_p.V515V|SLC8A1_uc010fan.1_Silent_p.V515V|SLC8A1_uc002rsc.1_Silent_p.V515V	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	515	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAGTGTAGAAACATGATTGG	0.423													G	40655876	A	G	40655876	2	3	238	1	0	0	0	0	0	0	0	1	14706	1	1	3		3	SLC8A1	2	40655876	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	9198323	40655876	202543497	69	120460											
PRKCE	5581	broad.mit.edu	37	chr2	46237529	46237529	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagtatatgctgtgaAggtcttaaagaaggacgtca	12	4	2	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:46237529A>C	uc002rut.2	+	10	1507	c.1310A>C	c.(1309-1311)AAG>ACG	p.K437T		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	437	Protein kinase.	ATP (By similarity).		K->W: Abolishes activity and S-729 phosphorylation.	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			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TATGCTGTGAAGGTCTTAAAG	0.443													C	46237529	A	C	46237529	3	2	238	1	0	0	0	0	1	0	0	0	12511	72	3	5	1348	5	PRKCE	2	46237529	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	5581653	46237529	196961844	70	120461											
MSH6	2956	broad.mit.edu	37	chr2	48028150	48028150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacgatactggaccaaaActattgaaaagaagttggct	9	6	0	2	rs63750369		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:48028150A>G	uc002rwd.3	+	4	3180	c.3028A>G	c.(3028-3030)ACT>GCT	p.T1010A	MSH6_uc002rwc.2_Missense_Mutation_p.T1010A|MSH6_uc010fbj.2_Missense_Mutation_p.T708A|MSH6_uc010yoi.1_Missense_Mutation_p.T880A|MSH6_uc010yoj.1_Missense_Mutation_p.T708A	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	1010					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			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGACCAAAACTATTGAAAA	0.398			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				G	48028150	A	G	48028150	3	3	238	1	0	0	0	0	1	0	0	0	9874	43	2	3	3042	3	MSH6	2	48028150	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1790621	48028150	195171223	71	120462											
NRXN1	9378	broad.mit.edu	37	chr2	50850582	50850582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagacagctccatttttcAgggcaagattgacataatca	9	8	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:50850582A>G	uc010fbq.2	-	6	2580	c.1103T>C	c.(1102-1104)CTG>CCG	p.L368P	NRXN1_uc002rxb.3_Missense_Mutation_p.L15P|NRXN1_uc002rxe.3_Missense_Mutation_p.L335P|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCATTTTTCAGGGCAAGATT	0.433													G	50850582	A	G	50850582	3	3	238	1	0	0	0	0	1	0	0	0	10665	188	7	3	3875	3	NRXN1	2	50850582	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	2822432	50850582	192348791	72	120463											
CCDC85A	114800	broad.mit.edu	37	chr2	56420254	56420254	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccgaaacgctgcccAagcacgtgctgagtgggagc	14	14	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:56420254A>T	uc002rzn.2	+	2	1421	c.919A>T	c.(919-921)AAG>TAG	p.K307*		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	307	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACGCTGCCCAAGCACGTGCT	0.637													T	56420254	A	T	56420254	4	4	238	1	0	0	0	0	0	1	0	0	2859	131	5	5	925	5	CCDC85A	2	56420254	Nonsense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	5569672	56420254	186779119	73	120464											
USP34	9736	broad.mit.edu	37	chr2	61450271	61450271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttatattgatgccatcaCgaatatgttgaaacaagaag	8	6	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:61450271C>T	uc002sbe.2	-	64	7695	c.7673G>A	c.(7672-7674)CGT>CAT	p.R2558H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2558					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GATGCCATCACGAATATGTTG	0.328													T	61450271	C	T	61450271	3	4	238	1	0	0	0	0	1	0	0	0	17062	536	19	1	3035	1	USP34	2	61450271	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5030017	61450271	181749102	74	120465											
USP34	9736	broad.mit.edu	37	chr2	61575116	61575116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaaggaagtccccagttCgtgtgatacaagactcctga	9	13	0	3	rs142392366	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:61575116C>T	uc002sbe.2	-	15	2196	c.2174G>A	c.(2173-2175)CGA>CAA	p.R725Q		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	725					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GTCCCCAGTTCGTGTGATACA	0.363													T	61575116	C	T	61575116	3	4	238	1	0	0	0	0	1	0	0	0	17062	884	31	1	8730	1	USP34	2	61575116	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	124845	61575116	181624257	75	120466											
WDR92	116143	broad.mit.edu	37	chr2	68352450	68352450	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacagtgagcccttgggccGcatctccatcaagctgtttg	11	13	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:68352450G>A	uc002sed.1	-	9		c.1091C>T						Q96MX6	WDR92_HUMAN	Homo sapiens cDNA FLJ31741 fis, clone NT2RI2007148.						apoptosis|histone lysine methylation		methylated histone residue binding				0						CCCTTGGGCCGCATCTCCATC	0.512													A	68352450	G	A	68352450	1	1	238	0	1	0	0	0	0	0	0	0	17336	1102	38	1		1	WDR92	2	68352450	RNA	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	6777334	68352450	174846923	76	120467											
PROKR1	10887	broad.mit.edu	37	chr2	68882355	68882355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatccgcaagaggctgCgctgccgcaggaagacggtc	15	12	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:68882355C>T	uc010yqj.1	+	2	829	c.829C>T	c.(829-831)CGC>TGC	p.R277C	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	277	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CAAGAGGCTGCGCTGCCGCAG	0.622													T	68882355	C	T	68882355	3	4	238	1	0	0	0	0	1	0	0	0	12552	768	27	1	835	1	PROKR1	2	68882355	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	529905	68882355	174317018	77	120468											
ANTXR1	84168	broad.mit.edu	37	chr2	69351762	69351762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagttctgtcatcatcaCcaccacacactgtgtaagtc	5	15	4	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:69351762C>T	uc002sfg.2	+	12	1294	c.938C>T	c.(937-939)ACC>ATC	p.T313I	ANTXR1_uc002sfe.2_Missense_Mutation_p.T313I|ANTXR1_uc002sff.2_Missense_Mutation_p.T313I	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	313	Extracellular (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						GTCATCATCACCACCACACAC	0.433									Familial_Infantile_Hemangioma				T	69351762	C	T	69351762	3	4	238	1	0	0	0	0	1	0	0	0	711	507	18	4	984	4	ANTXR1	2	69351762	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	469407	69351762	173847611	78	120469											
PCYOX1	51449	broad.mit.edu	37	chr2	70504482	70504482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgggcacacagacatgatTgatcaggatggcttatatga	11	7	1	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:70504482T>C	uc002sgn.3	+	6	1542	c.1476T>C	c.(1474-1476)ATT>ATC	p.I492I	PCYOX1_uc010fdo.2_Silent_p.I415I|PCYOX1_uc010yqu.1_Silent_p.I474I	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	492					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						CAGACATGATTGATCAGGATG	0.468													C	70504482	T	C	70504482	2	2	238	1	0	0	0	0	0	0	0	1	11608	1800	63	3		3	PCYOX1	2	70504482	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1152720	70504482	172694891	79	120470											
FAM136A	84908	broad.mit.edu	37	chr2	70528015	70528015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaaagcctgggcttgaGccagaggcacatggcagcgc	14	12	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:70528015G>A	uc002sgq.3	-	2	262	c.185C>T	c.(184-186)GCT>GTT	p.A62V	FAM136A_uc010fdp.2_RNA	NM_032822	NP_116211	Q96C01	F136A_HUMAN	hypothetical protein LOC84908	62						mitochondrion	protein binding				0						CTGGGCTTGAGCCAGAGGCAC	0.557													A	70528015	G	A	70528015	3	1	238	1	0	0	0	0	1	0	0	0	5450	971	34	2	239	2	FAM136A	2	70528015	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	23533	70528015	172671358	80	120471											
DYSF	8291	broad.mit.edu	37	chr2	71740970	71740970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactaccttcacgtcctccGccccactaccccgggatcaa	5	19	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:71740970G>A	uc002sie.2	+	6	958	c.582G>A	c.(580-582)CCG>CCA	p.P194P	DYSF_uc010feg.2_Silent_p.P225P|DYSF_uc010feh.2_Silent_p.P194P|DYSF_uc002sig.3_Silent_p.P194P|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.P194P|DYSF_uc010fef.2_Silent_p.P225P|DYSF_uc010fei.2_Silent_p.P225P|DYSF_uc010fek.2_Silent_p.P226P|DYSF_uc010fej.2_Silent_p.P195P|DYSF_uc010fel.2_Silent_p.P195P|DYSF_uc010feo.2_Silent_p.P226P|DYSF_uc010fem.2_Silent_p.P195P|DYSF_uc010fen.2_Silent_p.P226P|DYSF_uc002sif.2_Silent_p.P195P	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	194	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CACGTCCTCCGCCCCACTACC	0.582													A	71740970	G	A	71740970	2	1	238	1	0	0	0	0	0	0	0	1	4859	1074	38	1		1	DYSF	2	71740970	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1212955	71740970	171458403	81	120472											
STAMBP	10617	broad.mit.edu	37	chr2	74086401	74086401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccccacacagaccgcGtttctctccagtgtcgacct	6	18	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:74086401G>A	uc002sjs.2	+	8	1076	c.1026G>A	c.(1024-1026)GCG>GCA	p.A342A	STAMBP_uc002sjt.2_Silent_p.A342A|STAMBP_uc002sju.2_Silent_p.A342A|STAMBP_uc002sjv.2_Silent_p.A342A	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	342	JAMM motif.|MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4						CACAGACCGCGTTTCTCTCCA	0.413													A	74086401	G	A	74086401	2	1	238	1	0	0	0	0	0	0	0	1	15249	1132	40	1		1	STAMBP	2	74086401	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2345431	74086401	169112972	82	120473											
TET3	200424	broad.mit.edu	37	chr2	74328942	74328942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagctgcacgccaccaCgccgcttaagaagcccaacc	11	17	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:74328942C>T	uc002skb.3	+	9	4622	c.4622C>T	c.(4621-4623)ACG>ATG	p.T1541M		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1541							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CACGCCACCACGCCGCTTAAG	0.662													T	74328942	C	T	74328942	3	4	238	1	0	0	0	0	1	0	0	0	15768	536	19	1	4656	1	TET3	2	74328942	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	242541	74328942	168870431	83	120474											
DQX1	165545	broad.mit.edu	37	chr2	74750267	74750267	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggaaccctcttgctcGcaatcgtcttgcctctgcct	10	14	3	0	rs150420269	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:74750267G>A	uc010yrw.1	-	6	1288	c.1123C>T	c.(1123-1125)CGA>TGA	p.R375*	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	375	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CCTCTTGCTCGCAATCGTCTT	0.502													A	74750267	G	A	74750267	4	1	238	1	0	0	0	0	0	1	0	0	4751	1095	38	1	1058	1	DQX1	2	74750267	Nonsense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	421325	74750267	168449106	84	120475											
RETSAT	54884	broad.mit.edu	37	chr2	85573156	85573156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgttgaacagtcctgcGttggagaccacgatggggca	15	8	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:85573156G>A	uc002spd.2	-	6	1250	c.1059C>T	c.(1057-1059)AAC>AAT	p.N353N	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Silent_p.N292N|RETSAT_uc010fgf.2_Silent_p.N144N	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	353				N -> S (in Ref. 2; BAC11505).	retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	ACAGTCCTGCGTTGGAGACCA	0.582													A	85573156	G	A	85573156	2	1	238	1	0	0	0	0	0	0	0	1	13238	1136	40	1		1	RETSAT	2	85573156	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	10822889	85573156	157626217	85	120476											
KDM3A	55818	broad.mit.edu	37	chr2	86693820	86693820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacctagaacatgcacctTccccatcggatgtttcaaat	6	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:86693820T>C	uc002sri.3	+	10	1660	c.1333T>C	c.(1333-1335)TCC>CCC	p.S445P	KDM3A_uc010ytj.1_Missense_Mutation_p.S445P|KDM3A_uc010ytk.1_Missense_Mutation_p.S393P	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	445					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			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						ACATGCACCTTCCCCATCGGA	0.448													C	86693820	T	C	86693820	3	2	238	1	0	0	0	0	1	0	0	0	8126	1783	62	3	1367	3	KDM3A	2	86693820	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1120664	86693820	156505553	86	120477											
KDM3A	55818	broad.mit.edu	37	chr2	86697397	86697397	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacagagtggcgaggccttCgtacaggatgattcttgtgt	13	8	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:86697397C>T	uc002sri.3	+	11	1917	c.1590C>T	c.(1588-1590)TTC>TTT	p.F530F	KDM3A_uc010ytj.1_Silent_p.F530F|KDM3A_uc010ytk.1_Silent_p.F478F	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	530					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			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GCGAGGCCTTCGTACAGGATG	0.493													T	86697397	C	T	86697397	2	4	238	1	0	0	0	0	0	0	0	1	8126	883	31	1		1	KDM3A	2	86697397	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3577	86697397	156501976	87	120478											
MRPS5	64969	broad.mit.edu	37	chr2	95756174	95756174	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgggtgaggctgagcAtattaatggacccagagacc	14	10	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:95756174A>C	uc002sub.2	-	11	1243	c.1025T>G	c.(1024-1026)ATG>AGG	p.M342R	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	342					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						GAGGCTGAGCATATTAATGGA	0.527													C	95756174	A	C	95756174	3	2	238	1	0	0	0	0	1	0	0	0	9846	217	8	5	275	5	MRPS5	2	95756174	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	9058777	95756174	147443199	88	120479											
BUB1	699	broad.mit.edu	37	chr2	111414651	111414651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgacagagcgttctcCaaaggtcctggctcctgtgg	12	12	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:111414651C>T	uc002tgc.2	-	15	1772	c.1660G>A	c.(1660-1662)GGA>AGA	p.G554R	BUB1_uc010yxh.1_Missense_Mutation_p.G534R|BUB1_uc010fkb.2_Missense_Mutation_p.G554R	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	554					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			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GAGCGTTCTCCAAAGGTCCTG	0.368													T	111414651	C	T	111414651	3	4	238	1	0	0	0	0	1	0	0	0	1570	603	21	4	1641	4	BUB1	2	111414651	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	15658477	111414651	131784722	89	120480											
STEAP3	55240	broad.mit.edu	37	chr2	120020675	120020675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgagcacactgcacAcgctcacctacggctggacc	10	16	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:120020675A>G	uc002tlp.2	+	6	1385	c.1228A>G	c.(1228-1230)ACG>GCG	p.T410A	STEAP3_uc002tlq.2_Missense_Mutation_p.T420A|STEAP3_uc002tlr.2_Missense_Mutation_p.T410A|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	410	Helical; (Potential).				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			central_nervous_system(2)|skin(1)	3						CACACTGCACACGCTCACCTA	0.612													G	120020675	A	G	120020675	3	3	238	1	0	0	0	0	1	0	0	0	15278	159	6	3	1276	3	STEAP3	2	120020675	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	8606024	120020675	123178698	90	120481											
CCDC74A	90557	broad.mit.edu	37	chr2	132290278	132290278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcctgccccttcccctgcGaaagcccaccacacttaggc	7	19	0	0	rs138310081	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:132290278G>A	uc002tta.2	+	5	852	c.800G>A	c.(799-801)CGA>CAA	p.R267Q	CCDC74A_uc002ttb.2_Missense_Mutation_p.R201Q	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										skin(1)	1						CTTCCCCTGCGAAAGCCCACC	0.642													A	132290278	G	A	132290278	3	1	238	1	0	0	0	0	1	0	0	0	2847	1058	37	1	818	1	CCDC74A	2	132290278	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	12269603	132290278	110909095	91	120482											
THSD7B	80731	broad.mit.edu	37	chr2	137814173	137814173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctttcagtgggaggTttctgactggcaccactgtg	12	10	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:137814173T>C	uc002tva.1	+	2	230	c.230T>C	c.(229-231)GTT>GCT	p.V77A	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGTGGGAGGTTTCTGACTGG	0.542													C	137814173	T	C	137814173	3	2	238	1	0	0	0	0	1	0	0	0	15877	1725	60	3	236	3	THSD7B	2	137814173	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	5523895	137814173	105385200	92	120483											
ZEB2	9839	broad.mit.edu	37	chr2	145154054	145154054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acataagtcacatgcatacaTgccactctctgtcttcttga	5	12	4	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:145154054T>C	uc002tvu.2	-	9	3472	c.2992A>G	c.(2992-2994)ATG>GTG	p.M998V	ZEB2_uc002tvv.2_Missense_Mutation_p.M992V|ZEB2_uc010zbm.1_Missense_Mutation_p.M969V|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	998						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATGCATACATGCCACTCTCT	0.443													C	145154054	T	C	145154054	3	2	238	1	0	0	0	0	1	0	0	0	17621	1464	51	3	660	3	ZEB2	2	145154054	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	7339881	145154054	98045319	93	120484											
ARL5A	26225	broad.mit.edu	37	chr2	152663420	152663420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaactgggagatttctgCtacagtcatgcattctttaa	7	8	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:152663420C>T	uc002txx.1	-	5	725	c.406G>A	c.(406-408)GCA>ACA	p.A136T	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Missense_Mutation_p.A99T|ARL5A_uc002txw.1_Missense_Mutation_p.A99T	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	136					small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)		GAGATTTCTGCTACAGTCATG	0.388													T	152663420	C	T	152663420	3	4	238	1	0	0	0	0	1	0	0	0	939	797	28	2	141	2	ARL5A	2	152663420	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7509366	152663420	90535953	94	120485											
PRPF40A	55660	broad.mit.edu	37	chr2	153526809	153526809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgctgggcttcagaccaAgtggtagagtatgttacatt	11	7	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:153526809A>G	uc002tyh.3	-	15	1588	c.1566T>C	c.(1564-1566)ACT>ACC	p.T522T	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Silent_p.T469T	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	549	FF 3.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CTTCAGACCAAGTGGTAGAGT	0.363													G	153526809	A	G	153526809	2	3	238	1	0	0	0	0	0	0	0	1	12571	59	3	3		3	PRPF40A	2	153526809	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	863389	153526809	89672564	95	120486											
IFIH1	64135	broad.mit.edu	37	chr2	163174504	163174504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagcgttctcaaacgatGgagagggcaagtccgtgagc	14	9	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:163174504G>A	uc002uce.2	-	1	536	c.314C>T	c.(313-315)CCA>CTA	p.P105L	IFIH1_uc002ucf.2_Missense_Mutation_p.P105L	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	105					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			ovary(1)	1						CTCAAACGATGGAGAGGGCAA	0.562													A	163174504	G	A	163174504	3	1	238	1	0	0	0	0	1	0	0	0	7520	1348	47	4	2827	4	IFIH1	2	163174504	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	9647695	163174504	80024869	96	120487											
SCN2A	6326	broad.mit.edu	37	chr2	166179909	166179909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgctccccatcctgCccatgaatgggaagatgcat	11	13	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:166179909C>T	uc002udc.2	+	12	2205	c.1915C>T	c.(1915-1917)CCC>TCC	p.P639S	SCN2A_uc002udd.2_Missense_Mutation_p.P639S|SCN2A_uc002ude.2_Missense_Mutation_p.P639S	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	639					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CCCCATCCTGCCCATGAATGG	0.617													T	166179909	C	T	166179909	3	4	238	1	0	0	0	0	1	0	0	0	13916	739	26	2	2053	2	SCN2A	2	166179909	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3005405	166179909	77019464	97	120488											
TTN	7273	broad.mit.edu	37	chr2	179428619	179428619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgggtccaagagagtcGgcttgtctccctcttttcaa	9	12	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:179428619G>A	uc010zfg.1	-	275	74760	c.74536C>T	c.(74536-74538)CGA>TGA	p.R24846*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R18541*|TTN_uc010zfi.1_Nonsense_Mutation_p.R18474*|TTN_uc010zfj.1_Nonsense_Mutation_p.R18349*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25773							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAGAGTCGGCTTGTCTCC	0.438													A	179428619	G	A	179428619	4	1	238	1	0	0	0	0	0	1	0	0	16732	1124	39	1	25887	1	TTN	2	179428619	Nonsense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	13248710	179428619	63770754	98	120489											
TTN	7273	broad.mit.edu	37	chr2	179480516	179480516	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcacaaagtccataacCtgggacaaagaaatacagtt	7	9	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:179480516C>A	uc010zfg.1	-	207	40833	c.40609_splice	c.e207-1	p.V13537_splice	TTN_uc010zfh.1_Splice_Site_p.V7232_splice|TTN_uc010zfi.1_Splice_Site_p.V7165_splice|TTN_uc010zfj.1_Splice_Site_p.V7040_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCCATAACCTGGGACAAAG	0.378													A	179480516	C	A	179480516	5	1	238	1	0	0	0	0	0	0	1	0	16732	695	24	5	59801	5	TTN	2	179480516	Splice_Site	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	51897	179480516	63718857	99	120490											
TTN	7273	broad.mit.edu	37	chr2	179611454	179611454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttgattctttcatctgGctctagtaaagatttatttc	5	7	4	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:179611454G>A	uc002unb.2	-	46	15897	c.15673C>T	c.(15673-15675)CCA>TCA	p.P5225S	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	8744							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCATCTGGCTCTAGTAAA	0.383													A	179611454	G	A	179611454	3	1	238	1	0	0	0	0	1	0	0	0	16732	1203	42	2	94624	2	TTN	2	179611454	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	130938	179611454	63587919	100	120491											
PIKFYVE	200576	broad.mit.edu	37	chr2	209209876	209209876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagaggaattgtctaaagCgactcagtggaacagtgccg	12	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:209209876C>T	uc002vcz.2	+	33	5227	c.5069C>T	c.(5068-5070)GCG>GTG	p.A1690V		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1690					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			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TTGTCTAAAGCGACTCAGTGG	0.328													T	209209876	C	T	209209876	3	4	238	1	0	0	0	0	1	0	0	0	11924	768	27	1	5206	1	PIKFYVE	2	209209876	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	29598422	209209876	33989497	101	120492											
PTH2R	5746	broad.mit.edu	37	chr2	209271775	209271775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgttccgggcatggccGggctgggggcgtcgctccac	17	15	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:209271775G>A	uc002vdb.2	+	1	220	c.7G>A	c.(7-9)GGG>AGG	p.G3R	PTH2R_uc010zjb.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	3						integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGGCATGGCCGGGCTGGGGGC	0.637													A	209271775	G	A	209271775	3	1	238	1	0	0	0	0	1	0	0	0	12760	1116	39	1	9	1	PTH2R	2	209271775	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	61899	209271775	33927598	102	120493											
ABCA12	26154	broad.mit.edu	37	chr2	215851418	215851418	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgagatctttaggttcAggctcgatgttagaggaaaa	12	5	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:215851418A>G	uc002vew.2	-	28	4231	c.4011T>C	c.(4009-4011)CCT>CCC	p.P1337P	ABCA12_uc002vev.2_Silent_p.P1019P|ABCA12_uc010zjn.1_Silent_p.P264P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1337					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		CTTTAGGTTCAGGCTCGATGT	0.423													G	215851418	A	G	215851418	2	3	238	1	0	0	0	0	0	0	0	1	30	175	7	3		3	ABCA12	2	215851418	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	6579643	215851418	27347955	103	120494											
USP37	57695	broad.mit.edu	37	chr2	219319721	219319721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttcttttctgtttccaGcagctcatcaaagatctccc	6	12	5	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:219319721G>A	uc002vie.2	-	26	3325	c.2872C>T	c.(2872-2874)CTG>TTG	p.L958L	USP37_uc010fvs.1_Silent_p.L958L|USP37_uc010zkf.1_Silent_p.L958L|USP37_uc002vif.2_Silent_p.L958L|USP37_uc002vig.2_Silent_p.L864L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	958					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		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)		TCTGTTTCCAGCAGCTCATCA	0.418													A	219319721	G	A	219319721	2	1	238	1	0	0	0	0	0	0	0	1	17065	962	34	2		2	USP37	2	219319721	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3468303	219319721	23879652	104	120495											
STK11IP	114790	broad.mit.edu	37	chr2	220480877	220480877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgttttccatcggactcCggacagtgatccaagaggcg	12	11	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:220480877C>T	uc002vml.2	+	25	3305	c.3262C>T	c.(3262-3264)CGG>TGG	p.R1088W		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	1088					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		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)		CATCGGACTCCGGACAGTGAT	0.617													T	220480877	C	T	220480877	3	4	238	1	0	0	0	0	1	0	0	0	15287	643	23	1	3360	1	STK11IP	2	220480877	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1161156	220480877	22718496	105	120496											
DIS3L2	129563	broad.mit.edu	37	chr2	233198664	233198664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccgccgctttgccgacGtcctggtgcaccgcctcctg	10	19	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:233198664G>A	uc010fxz.2	+	17	2401	c.2125G>A	c.(2125-2127)GTC>ATC	p.V709I	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	709							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		CTTTGCCGACGTCCTGGTGCA	0.687													A	233198664	G	A	233198664	3	1	238	1	0	0	0	0	1	0	0	0	4537	1145	40	1	2187	1	DIS3L2	2	233198664	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	12717787	233198664	10000709	106	120497											
NEU2	4759	broad.mit.edu	37	chr2	233899467	233899467	+	Frame_Shift_Del	DEL	C	C	-													agcgtcatcagcttccccagCccccgctcggggcctggctc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:233899466_233899466GC>G	uc010zmn.2	+	1	842	c.842_842GC>G	c.(841-843)agcfs	p.S281fs		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	281							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AGCTTCCCCAGCCCCCGCTCG	0.672													-	233899467	C	-	233899467	7	5	238	1	0	1	0	1	0	0	0	0	10342	738	26	0	849	0	NEU2	2	233899467	Frame_Shift_Del	DEL	C	TCGA-F1-A448-01A-11D-A24D-08	700803	233899467	9299906	107	120498											
AGAP1	116987	broad.mit.edu	37	chr2	236649623	236649624	+	Frame_Shift_Del	DEL	AG	AG	-													gcaggtggcaggttcaagaaAgagattgtcgttgatggaca							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:236649622_236649623AAG>A	uc002vvs.3	+	3	924_925	c.326_327AAG>A	c.(325-327)aaafs	p.K109fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.K109fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.K109fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	109	Small GTPase-like.				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						AGGTTCAAGAAAGAGATTGTCG	0.535													-	236649624	AG	-	236649623	7	5	238	1	0	1	0	1	0	0	0	0	366	69	3	0	341	0	AGAP1	2	236649623	Frame_Shift_Del	DEL	AG	TCGA-F1-A448-01A-11D-A24D-08	2750156	236649623	6549750	108	120499											
CXCR7	57007	broad.mit.edu	37	chr2	237489811	237489811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgtcttctacttcctgCtggccagagccatctcggcg	10	15	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:237489811C>T	uc010fyq.2	+	3	933	c.703C>T	c.(703-705)CTG>TTG	p.L235L	CXCR7_uc002vwd.2_Silent_p.L235L	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	235	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CTACTTCCTGCTGGCCAGAGC	0.572													T	237489811	C	T	237489811	2	4	238	1	0	0	0	0	0	0	0	1	4096	796	28	2		2	CXCR7	2	237489811	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	840188	237489811	5709562	109	120500											
FARP2	9855	broad.mit.edu	37	chr2	242401954	242401954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgcgtgcctgcagacgAggcctacttcatagtcaaag	11	12	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:242401954A>G	uc002wbi.1	+	15	1721	c.1604A>G	c.(1603-1605)GAG>GGG	p.E535G	FARP2_uc010zoq.1_Missense_Mutation_p.E535G|FARP2_uc010zor.1_Missense_Mutation_p.E535G	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	535	DH.				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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		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)		CCTGCAGACGAGGCCTACTTC	0.483													G	242401954	A	G	242401954	3	3	238	1	0	0	0	0	1	0	0	0	5677	304	11	3	1658	3	FARP2	2	242401954	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	4912143	242401954	797419	110	120501											
ATG4B	23192	broad.mit.edu	37	chr2	242598544	242598544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcttgctgtcttcgatacGtggagctccttggcggtcca	12	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:242598544G>A	uc002wbv.2	+	7	583	c.480G>A	c.(478-480)ACG>ACA	p.T160T	ATG4B_uc002wbu.2_Silent_p.T86T|ATG4B_uc002wbw.2_Silent_p.T160T|ATG4B_uc010zox.1_Silent_p.T146T|ATG4B_uc010zoy.1_Silent_p.T86T|ATG4B_uc010fzp.2_Silent_p.T160T|ATG4B_uc010zoz.1_Silent_p.T86T	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	160					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-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;0.0848)		TCTTCGATACGTGGAGCTCCT	0.453													A	242598544	G	A	242598544	2	1	238	1	0	0	0	0	0	0	0	1	1097	1132	40	1		1	ATG4B	2	242598544	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	196590	242598544	600829	111	120502											
DTYMK	1841	broad.mit.edu	37	chr2	242618032	242618032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggtttgggaaggcccacGtctggctgtttacaccaatc	12	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr2:242618032G>A	uc002wbz.1	-	4	392	c.363C>T	c.(361-363)GAC>GAT	p.D121D	DTYMK_uc010zpa.1_Intron|DTYMK_uc010zpb.1_RNA|DTYMK_uc002wca.1_RNA|DTYMK_uc002wcb.1_5'Flank	NM_012145	NP_036277	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	121					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity				0		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)		GAAGGCCCACGTCTGGCTGTT	0.502													A	242618032	G	A	242618032	2	1	238	1	0	0	0	0	0	0	0	1	4798	1136	40	1		1	DTYMK	2	242618032	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	19488	242618032	581341	112	120503											
CRELD1	78987	broad.mit.edu	37	chr3	9982596	9982596	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgaaggagaagggacaCgagggggcagcgggcactgt	20	6	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:9982596C>T	uc003bug.2	+	6	641	c.523C>T	c.(523-525)CGA>TGA	p.R175*	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Nonsense_Mutation_p.R175*|CRELD1_uc003buh.2_Nonsense_Mutation_p.R175*|CRELD1_uc003bui.2_Nonsense_Mutation_p.R175*|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	175	Extracellular (Potential).|EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						AGAAGGGACACGAGGGGGCAG	0.632													T	9982596	C	T	9982596	4	4	238	1	0	0	0	0	0	1	0	0	3866	528	19	1	541	1	CRELD1	3	9982596	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		9982596	188039834	113	120504											
FANCD2	2177	broad.mit.edu	37	chr3	10106458	10106458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacggactggaagaataCgacactcaggatgggattgc	13	8	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:10106458C>T	uc003buw.2	+	23	2145	c.2067C>T	c.(2065-2067)TAC>TAT	p.Y689Y	FANCD2_uc003bux.1_Silent_p.Y689Y|FANCD2_uc003buy.1_Silent_p.Y689Y|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	689					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAAGAATACGACACTCAGG	0.498			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	10106458	C	T	10106458	2	4	238	1	0	0	0	0	0	0	0	1	5665	547	19	1		1	FANCD2	3	10106458	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	123862	10106458	187915972	114	120505											
VHL	7428	broad.mit.edu	37	chr3	10191488	10191488	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtatactctgaaagagCgatgcctccaggttgtccgg	12	10	1	2	rs5030818		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:10191488C>T	uc003bvc.2	+	3	694	c.481C>T	c.(481-483)CGA>TGA	p.R161*	VHL_uc003bvd.2_Nonsense_Mutation_p.R120*	NM_000551	NP_000542	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor isoform 1	161	Interaction with Elongin BC complex.		R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.R161*(10)|p.R161P(3)|p.R161del(1)|p.R161fs*13(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161Q(1)		kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGAAAGAGCGATGCCTCCA	0.502		1	D|Mis|N|F|S		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma			von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial				T	10191488	C	T	10191488	4	4	238	1	0	0	0	0	0	1	0	0	17159	760	27	1	491	1	VHL	3	10191488	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	85030	10191488	187830942	115	120506											
VHL	7428	broad.mit.edu	37	chr3	10191562	10191562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcgtcaggtcgctctaCgaagatctggaagaccaccc	10	13	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:10191562C>T	uc003bvc.2	+	3	768	c.555C>T	c.(553-555)TAC>TAT	p.Y185Y	VHL_uc003bvd.2_Silent_p.Y144Y	NM_000551	NP_000542	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor isoform 1	185					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.Y185fs*17(4)|p.Y185*(2)|p.Y185fs*1(1)|p.S183*(1)|p.Y185fs*11(1)|p.Y185Y(1)|p.Y185fs*29(1)		kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGTCGCTCTACGAAGATCTGG	0.517		1	D|Mis|N|F|S		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma			von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial				T	10191562	C	T	10191562	2	4	238	1	0	0	0	0	0	0	0	1	17159	547	19	1		1	VHL	3	10191562	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	74	10191562	187830868	116	120507											
NUP210	23225	broad.mit.edu	37	chr3	13367374	13367374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggccacagccacacccGtcttggggtcgatgtggagg	15	14	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:13367374G>A	uc003bxv.1	-	33	4648	c.4565C>T	c.(4564-4566)ACG>ATG	p.T1522M		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1522	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AGCCACACCCGTCTTGGGGTC	0.627													A	13367374	G	A	13367374	3	1	238	1	0	0	0	0	1	0	0	0	10760	1145	40	1	1130	1	NUP210	3	13367374	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3175812	13367374	184655056	117	120508											
FGD5	152273	broad.mit.edu	37	chr3	14862458	14862458	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggcctgcatcaccaagaAgcccatcacaaagagctctc	7	16	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:14862458A>C	uc003bzc.2	+	1	1990	c.1880A>C	c.(1879-1881)AAG>ACG	p.K627T	FGD5_uc011avk.1_Missense_Mutation_p.K627T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	627					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			ovary(3)|kidney(1)|pancreas(1)	5						ATCACCAAGAAGCCCATCACA	0.557													C	14862458	A	C	14862458	3	2	238	1	0	0	0	0	1	0	0	0	5836	72	3	5	1882	5	FGD5	3	14862458	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1495084	14862458	183159972	118	120509											
FGD5	152273	broad.mit.edu	37	chr3	14862863	14862863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgccactgaccaagccacGgtccatctccttccccagcg	7	19	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:14862863G>T	uc003bzc.2	+	1	2395	c.2285G>T	c.(2284-2286)CGG>CTG	p.R762L	FGD5_uc011avk.1_Missense_Mutation_p.R762L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	762					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			ovary(3)|kidney(1)|pancreas(1)	5						ACCAAGCCACGGTCCATCTCC	0.577													T	14862863	G	T	14862863	3	4	238	1	0	0	0	0	1	0	0	0	5836	1116	39	5	2287	5	FGD5	3	14862863	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	405	14862863	183159567	119	120510											
GALNTL2	117248	broad.mit.edu	37	chr3	16260987	16260987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acattccactggtttctggcTaatgtctaccctgagctgta	8	11	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:16260987T>C	uc003car.3	+	7	1945	c.1470T>C	c.(1468-1470)GCT>GCC	p.A490A	GALNTL2_uc003caq.3_Silent_p.A223A|GALNTL2_uc003cas.3_Silent_p.A20A	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	490	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						GGTTTCTGGCTAATGTCTACC	0.562													C	16260987	T	C	16260987	2	2	238	1	0	0	0	0	0	0	0	1	6222	1509	53	3		3	GALNTL2	3	16260987	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1398124	16260987	181761443	120	120511											
THRB	7068	broad.mit.edu	37	chr3	24164475	24164475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcaggctcctatcatcCgcagatctgtcaccttcatc	7	15	4	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:24164475C>T	uc003ccx.3	-	11	1635	c.1286G>A	c.(1285-1287)CGG>CAG	p.R429Q	THRB_uc010hfe.2_Missense_Mutation_p.R429Q|THRB_uc003ccy.3_Missense_Mutation_p.R429Q|THRB_uc003ccz.3_Missense_Mutation_p.R424Q	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	429	Ligand-binding.|Interaction with NR2F6.		R -> Q (in PRTH).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCTATCATCCGCAGATCTGT	0.493													T	24164475	C	T	24164475	3	4	238	1	0	0	0	0	1	0	0	0	15872	652	23	1	103	1	THRB	3	24164475	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7903488	24164475	173857955	121	120512											
NEK10	152110	broad.mit.edu	37	chr3	27216147	27216147	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccactagcagtacctttctCagcattttccaggttgaagt	8	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:27216147C>T	uc010hfk.2	-	6	848	c.619G>A	c.(619-621)GAG>AAG	p.E207K	NEK10_uc003cds.1_Missense_Mutation_p.E292K|NEK10_uc010hfj.2_Missense_Mutation_p.E207K			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	895							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GTACCTTTCTCAGCATTTTCC	0.483													T	27216147	C	T	27216147	3	4	238	1	0	0	0	0	1	0	0	0	10322	841	29	4		4	NEK10	3	27216147	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3051672	27216147	170806283	122	120513											
GADL1	339896	broad.mit.edu	37	chr3	30769843	30769843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgacctttccccggTgcggctggtagcccagcatc	12	13	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:30769843T>C	uc003cep.2	-	15	1504	c.1457A>G	c.(1456-1458)CAC>CGC	p.H486R		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	486					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	CTTTCCCCGGTGCGGCTGGTA	0.562													C	30769843	T	C	30769843	3	2	238	1	0	0	0	0	1	0	0	0	6185	1696	59	3	112	3	GADL1	3	30769843	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3553696	30769843	167252587	123	120514											
CCR4	1233	broad.mit.edu	37	chr3	32995136	32995136	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcggctcaggtccatgacTgatgtgtacctgctcaacct	10	12	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:32995136T>C	uc003cfg.1	+	2	390	c.222T>C	c.(220-222)ACT>ACC	p.T74T		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	74	Cytoplasmic (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						GGTCCATGACTGATGTGTACC	0.498													C	32995136	T	C	32995136	2	2	238	1	0	0	0	0	0	0	0	1	2943	1567	55	3		3	CCR4	3	32995136	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2225293	32995136	165027294	124	120515											
TRAK1	22906	broad.mit.edu	37	chr3	42251455	42251455	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctagctacctccactccAgttcagcacccagagacctc	6	19	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:42251455A>C	uc003cky.2	+	14	2157	c.1941A>C	c.(1939-1941)CCA>CCC	p.P647P	TRAK1_uc011azh.1_Silent_p.P647P|TRAK1_uc011azi.1_Intron|TRAK1_uc011azj.1_Silent_p.P573P|TRAK1_uc003cla.2_Silent_p.P589P	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	647					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						CCTCCACTCCAGTTCAGCACC	0.562													C	42251455	A	C	42251455	2	2	238	1	0	0	0	0	0	0	0	1	16446	175	7	5		5	TRAK1	3	42251455	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	9256319	42251455	155770975	125	120516											
SCAP	22937	broad.mit.edu	37	chr3	47455441	47455441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagcaccaggatctggCgggcaggctgggcctcactg	15	13	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:47455441C>T	uc003crh.1	-	23	3998	c.3743G>A	c.(3742-3744)CGC>CAC	p.R1248H	SCAP_uc011baz.1_Missense_Mutation_p.R992H|SCAP_uc003crg.2_Missense_Mutation_p.R855H|uc003cri.2_5'Flank	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	1248	Interaction with SREBF2 (By similarity).|Cytoplasmic (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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAGGATCTGGCGGGCAGGCTG	0.592													T	47455441	C	T	47455441	3	4	238	1	0	0	0	0	1	0	0	0	13877	768	27	1	100	1	SCAP	3	47455441	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5203986	47455441	150566989	126	120517											
CELSR3	1951	broad.mit.edu	37	chr3	48697911	48697911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccaaagaagtaatgctcCacagactcacggtccagggg	10	12	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:48697911C>T	uc003cul.2	-	1	2438	c.2157G>A	c.(2155-2157)GTG>GTA	p.V719V	CELSR3_uc003cuf.1_Silent_p.V789V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	719	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTAATGCTCCACAGACTCAC	0.552													T	48697911	C	T	48697911	2	4	238	1	0	0	0	0	0	0	0	1	3223	581	21	4		4	CELSR3	3	48697911	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1242470	48697911	149324519	127	120518											
RHOA	387	broad.mit.edu	37	chr3	49412973	49412973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatgagcaagcatgtctttCcacaggctccatcaccaaca	6	14	2	1	rs11552761		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:49412973C>T	uc003cwu.2	-	2	326	c.50G>A	c.(49-51)GGA>GAA	p.G17E	RHOA_uc010hku.2_Intron	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	17	GTP.				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.G17V(1)		ovary(2)	2				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)	GCATGTCTTTCCACAGGCTCC	0.473													T	49412973	C	T	49412973	3	4	238	1	0	0	0	0	1	0	0	0	13331	855	30	4	547	4	RHOA	3	49412973	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	715062	49412973	148609457	128	120519											
BSN	8927	broad.mit.edu	37	chr3	49699948	49699948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcatataagcgtgaggAgggctacatcctggatgatt	12	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:49699948A>C	uc003cxe.3	+	6	10784	c.10670A>C	c.(10669-10671)GAG>GCG	p.E3557A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3557					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.E3557D(1)		ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCGTGAGGAGGGCTACATC	0.597													C	49699948	A	C	49699948	3	2	238	1	0	0	0	0	1	0	0	0	1530	304	11	5	10692	5	BSN	3	49699948	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	286975	49699948	148322482	129	120520											
RPL29	6159	broad.mit.edu	37	chr3	52027925	52027925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaatacgggcacgagcaCgcttcccaagcttggggtgg	15	11	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:52027925C>T	uc003dcs.2	-	4	414	c.320G>A	c.(319-321)CGT>CAT	p.R107H		NM_000992	NP_000983	P47914	RL29_HUMAN	ribosomal protein L29	107					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCACGAGCACGCTTCCCAAG	0.507													T	52027925	C	T	52027925	3	4	238	1	0	0	0	0	1	0	0	0	13578	536	19	1	163	1	RPL29	3	52027925	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2327977	52027925	145994505	130	120521											
ITIH1	3697	broad.mit.edu	37	chr3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgaggttgttttgcacCgagtgtggaaggggagctcg	16	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:52824844C>T	uc003dfs.2	+	20	2425	c.2401C>T	c.(2401-2403)CGA>TGA	p.R801*	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Nonsense_Mutation_p.R402*|ITIH1_uc010hmo.1_Nonsense_Mutation_p.R355*|ITIH1_uc003dfu.2_Nonsense_Mutation_p.R167*	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				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)		TGTTTTGCACCGAGTGTGGAA	0.612													T	52824844	C	T	52824844	4	4	238	1	0	0	0	0	0	1	0	0	7903	644	23	1	2479	1	ITIH1	3	52824844	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	796919	52824844	145197586	131	120522											
CACNA1D	776	broad.mit.edu	37	chr3	53694302	53694302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactagtgtcaggagtgcccAgtaagcacttattgtttcct	10	9	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:53694302A>G	uc003dgv.3	+	5	929	c.766A>G	c.(766-768)AGT>GGT	p.S256G	CACNA1D_uc003dgu.3_Missense_Mutation_p.S256G|CACNA1D_uc003dgy.3_Missense_Mutation_p.S256G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	256	Cytoplasmic (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	AGGAGTGCCCAGTAAGCACTT	0.517													G	53694302	A	G	53694302	3	3	238	1	0	0	0	0	1	0	0	0	2541	202	7	3	784	3	CACNA1D	3	53694302	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	869458	53694302	144328128	132	120523											
CACNA2D3	55799	broad.mit.edu	37	chr3	54925416	54925416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggaggttgccttcctcGgcactcgcacgggcctctcc	13	16	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:54925416G>A	uc003dhf.2	+	25	2233	c.2185G>A	c.(2185-2187)GGC>AGC	p.G729S	CACNA2D3_uc003dhg.1_Missense_Mutation_p.G635S|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	729	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCCTTCCTCGGCACTCGCAC	0.532													A	54925416	G	A	54925416	3	1	238	1	0	0	0	0	1	0	0	0	2550	1116	39	1	2283	1	CACNA2D3	3	54925416	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1231114	54925416	143097014	133	120524											
CADPS	8618	broad.mit.edu	37	chr3	62451042	62451042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagaagctctttacttacGgtaaatgacagaaaagaaga	8	5	1	5	rs62243467	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:62451042G>A	uc003dll.2	-	26	3996	c.3636C>T	c.(3634-3636)ACC>ACT	p.T1212T	CADPS_uc003dlj.1_Silent_p.T167T|CADPS_uc003dlk.1_Silent_p.T660T|CADPS_uc003dlm.2_Silent_p.T1173T|CADPS_uc003dln.2_Silent_p.T1133T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1212	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		CTTTACTTACGGTAAATGACA	0.373													A	62451042	G	A	62451042	2	1	238	1	0	0	0	0	0	0	0	1	2570	1130	39	1		1	CADPS	3	62451042	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	7525626	62451042	135571388	134	120525											
SHQ1	55164	broad.mit.edu	37	chr3	72881554	72881554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaacttggccagctcagCggccaggcgcttctgtcttc	10	14	4	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:72881554C>T	uc003dpf.2	-	5	672	c.565G>A	c.(565-567)GCT>ACT	p.A189T	SHQ1_uc010hod.2_Missense_Mutation_p.A100T	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	189					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		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)		GCCAGCTCAGCGGCCAGGCGC	0.388													T	72881554	C	T	72881554	3	4	238	1	0	0	0	0	1	0	0	0	14292	768	27	1	1196	1	SHQ1	3	72881554	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	10430512	72881554	125140876	135	120526											
CADM2	253559	broad.mit.edu	37	chr3	86114782	86114782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttggctggccagaatgGccctgaccatgctctcatag	11	12	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:86114782G>A	uc003dqj.2	+	9	1717	c.1091G>A	c.(1090-1092)GGC>GAC	p.G364D	CADM2_uc003dqk.2_Missense_Mutation_p.G333D|CADM2_uc003dql.2_Missense_Mutation_p.G366D	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	364	Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		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)		GGCCAGAATGGCCCTGACCAT	0.403													A	86114782	G	A	86114782	3	1	238	1	0	0	0	0	1	0	0	0	2567	1203	42	2	1196	2	CADM2	3	86114782	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	13233228	86114782	111907648	136	120527											
OR5H2	79310	broad.mit.edu	37	chr3	98001800	98001800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctcacaggacttacAtatcagccagagtggaaaat	8	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:98001800A>G	uc003dsj.1	+	1	69	c.69A>G	c.(67-69)ACA>ACG	p.T23T		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						CAGGACTTACATATCAGCCAG	0.413													G	98001800	A	G	98001800	2	3	238	1	0	0	0	0	0	0	0	1	11162	204	8	3		3	OR5H2	3	98001800	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	11887018	98001800	100020630	137	120528											
GPR15	2838	broad.mit.edu	37	chr3	98251069	98251069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatttcaaacccggcagCcgaagactgatcgacatctt	8	12	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:98251069C>T	uc011bgy.1	+	1	192	c.192C>T	c.(190-192)AGC>AGT	p.S64S		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	64	Cytoplasmic (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		AACCCGGCAGCCGAAGACTGA	0.483													T	98251069	C	T	98251069	2	4	238	1	0	0	0	0	0	0	0	1	6655	738	26	2		2	GPR15	3	98251069	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	249269	98251069	99771361	138	120529											
MORC1	27136	broad.mit.edu	37	chr3	108682287	108682287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttctgcaacaatagtgCcagttttatacgaagattct	8	7	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:108682287C>T	uc003dxl.2	-	27	2860	c.2773G>A	c.(2773-2775)GCA>ACA	p.A925T	MORC1_uc011bhn.1_Missense_Mutation_p.A904T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	925	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						AACAATAGTGCCAGTTTTATA	0.244													T	108682287	C	T	108682287	3	4	238	1	0	0	0	0	1	0	0	0	9701	739	26	2	189	2	MORC1	3	108682287	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	10431218	108682287	89340143	139	120530											
TMPRSS7	344805	broad.mit.edu	37	chr3	111795755	111795755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaccatggactgcacaccTcgggatgtatgttcagggga	12	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:111795755T>C	uc010hqb.2	+	14	1780	c.1610T>C	c.(1609-1611)CTC>CCC	p.L537P	TMPRSS7_uc011bhr.1_Missense_Mutation_p.L392P	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	663	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ACTGCACACCTCGGGATGTAT	0.433													C	111795755	T	C	111795755	3	2	238	1	0	0	0	0	1	0	0	0	16249	1551	54	3	1660	3	TMPRSS7	3	111795755	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3113468	111795755	86226675	140	120531											
QTRTD1	79691	broad.mit.edu	37	chr3	113786834	113786834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttttgtgtttatacagGcatgccagaatcactcttgt	7	8	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:113786834G>A	uc003eay.2	+	5	487	c.257G>A	c.(256-258)GGC>GAC	p.G86D	QTRTD1_uc003eaz.2_Missense_Mutation_p.G98D|QTRTD1_uc011biq.1_Intron|QTRTD1_uc011bir.1_Intron|QTRTD1_uc003eba.2_Intron	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	86					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						GTTTATACAGGCATGCCAGAA	0.458													A	113786834	G	A	113786834	3	1	238	1	0	0	0	0	1	0	0	0	12886	1217	42	2	267	2	QTRTD1	3	113786834	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1991079	113786834	84235596	141	120532											
TMEM39A	55254	broad.mit.edu	37	chr3	119165905	119165905	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgaggactgaatggcttcGaaagagattgacgagggtcc	14	6	0	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:119165905G>A	uc003eck.1	-	5	898	c.535C>T	c.(535-537)CGA>TGA	p.R179*	TMEM39A_uc003ecl.1_Nonsense_Mutation_p.R27*	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	179						integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GAATGGCTTCGAAAGAGATTG	0.418													A	119165905	G	A	119165905	4	1	238	1	0	0	0	0	0	1	0	0	16158	1066	37	1	951	1	TMEM39A	3	119165905	Nonsense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5379071	119165905	78856525	142	120533											
KPNA1	3836	broad.mit.edu	37	chr3	122152609	122152609	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaatactaatgagggcTgggaaaatgttggcatctat	11	4	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:122152609T>C	uc003efd.1	-	12	1185	c.1149A>G	c.(1147-1149)CCA>CCG	p.P383P	KPNA1_uc003efb.1_Silent_p.P182P|KPNA1_uc003efc.1_Silent_p.P182P|KPNA1_uc011bjr.1_Silent_p.P182P|KPNA1_uc010hrh.2_Silent_p.P182P|KPNA1_uc003efe.2_Silent_p.P383P	NM_002264	NP_002255	P52294	IMA1_HUMAN	karyopherin alpha 1	383	ARM 8.|Binding to RAG1.|NLS binding site (minor) (By similarity).				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				0				GBM - Glioblastoma multiforme(114;0.0898)		TAATGAGGGCTGGGAAAATGT	0.328													C	122152609	T	C	122152609	2	2	238	1	0	0	0	0	0	0	0	1	8429	1567	55	3		3	KPNA1	3	122152609	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2986704	122152609	75869821	143	120534											
MYLK	4638	broad.mit.edu	37	chr3	123452994	123452994	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctccagactgtccagcttCgactcctttgagattacatt	7	13	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:123452994C>T	uc003ego.2	-	10	1131	c.849G>A	c.(847-849)TCG>TCA	p.S283S	MYLK_uc011bjw.1_Silent_p.S283S|MYLK_uc003egp.2_Silent_p.S283S|MYLK_uc003egq.2_Silent_p.S283S|MYLK_uc003egr.2_Silent_p.S283S|MYLK_uc003egs.2_Silent_p.S107S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	283					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCCAGCTTCGACTCCTTTG	0.557													T	123452994	C	T	123452994	2	4	238	1	0	0	0	0	0	0	0	1	10056	871	31	1		1	MYLK	3	123452994	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1300385	123452994	74569436	144	120535											
CCDC14	64770	broad.mit.edu	37	chr3	123633848	123633848	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaacctgatgggccatgAcatgcagtttgttcctctgg	11	10	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:123633848A>G	uc011bjx.1	-	13	2731	c.2640T>C	c.(2638-2640)TGT>TGC	p.C880C	CCDC14_uc003egv.3_Silent_p.C521C|CCDC14_uc003egx.3_Silent_p.C680C|CCDC14_uc010hrt.2_Silent_p.C839C|CCDC14_uc003egy.3_Silent_p.C680C|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	880						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ATGGGCCATGACATGCAGTTT	0.463													G	123633848	A	G	123633848	2	3	238	1	0	0	0	0	0	0	0	1	2773	273	10	3		3	CCDC14	3	123633848	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	180854	123633848	74388582	145	120536											
KALRN	8997	broad.mit.edu	37	chr3	124376608	124376608	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggaactggaaaagtgTatccaggagcaagacagatt	13	7	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:124376608T>C	uc003ehg.2	+	41	6118	c.5991T>C	c.(5989-5991)TGT>TGC	p.C1997C	KALRN_uc003ehi.2_Silent_p.C338C|KALRN_uc003ehk.2_Silent_p.C300C|KALRN_uc011bjz.1_Silent_p.C89C	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1996	DH 2.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TGGAAAAGTGTATCCAGGAGC	0.408													C	124376608	T	C	124376608	2	2	238	1	0	0	0	0	0	0	0	1	7975	1644	57	3		3	KALRN	3	124376608	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	742760	124376608	73645822	146	120537											
SEC61A1	29927	broad.mit.edu	37	chr3	127783795	127783795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaaggtccgagcccttcGggaggcgttctaccgccaga	13	13	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:127783795G>A	uc003ekb.2	+	8	876	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Missense_Mutation_p.R178Q|SEC61A1_uc003ekd.2_Missense_Mutation_p.R111Q|SEC61A1_uc003ekg.2_Intron	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	231	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						CGAGCCCTTCGGGAGGCGTTC	0.507													A	127783795	G	A	127783795	3	1	238	1	0	0	0	0	1	0	0	0	14000	1116	39	1	722	1	SEC61A1	3	127783795	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3407187	127783795	70238635	147	120538											
COL6A6	131873	broad.mit.edu	37	chr3	130289969	130289969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgttcactgaagcccgGggcagccgcctgaacaaggg	13	13	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:130289969G>A	uc010htl.2	+	6	2740	c.2709G>A	c.(2707-2709)CGG>CGA	p.R903R		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	903	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CTGAAGCCCGGGGCAGCCGCC	0.547													A	130289969	G	A	130289969	2	1	238	1	0	0	0	0	0	0	0	1	3703	1219	43	4		4	COL6A6	3	130289969	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2506174	130289969	67732461	148	120539											
COL6A6	131873	broad.mit.edu	37	chr3	130293357	130293357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcaacatctgtaccacaGcgggtgaaagcagtaagtat	10	9	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:130293357G>A	uc010htl.2	+	7	3566	c.3535G>A	c.(3535-3537)GCG>ACG	p.A1179T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1179	Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CTGTACCACAGCGGGTGAAAG	0.458													A	130293357	G	A	130293357	3	1	238	1	0	0	0	0	1	0	0	0	3703	971	34	2	3561	2	COL6A6	3	130293357	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3388	130293357	67729073	149	120540											
SLCO2A1	6578	broad.mit.edu	37	chr3	133666179	133666179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggatcatggagatggTgatgatggtggtagctatgc	15	4	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:133666179T>C	uc003eqa.3	-	9	1490	c.1216A>G	c.(1216-1218)ACC>GCC	p.T406A	SLCO2A1_uc003eqb.3_Missense_Mutation_p.T330A|SLCO2A1_uc011blv.1_Missense_Mutation_p.T225A	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	406	Helical; Name=9; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						ATGGAGATGGTGATGATGGTG	0.517													C	133666179	T	C	133666179	3	2	238	1	0	0	0	0	1	0	0	0	14726	1696	59	3	739	3	SLCO2A1	3	133666179	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3372822	133666179	64356251	150	120541											
DBR1	51163	broad.mit.edu	37	chr3	137881108	137881108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattaatagaagacagagCagatgtgtctgtattatatt	10	3	1	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:137881108C>T	uc003erv.2	-	8	1394	c.1258G>A	c.(1258-1260)GCT>ACT	p.A420T	DBR1_uc003eru.2_Missense_Mutation_p.A369T|DBR1_uc003ert.2_Missense_Mutation_p.A188T	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	420						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						GAAGACAGAGCAGATGTGTCT	0.378													T	137881108	C	T	137881108	3	4	238	1	0	0	0	0	1	0	0	0	4257	710	25	2	380	2	DBR1	3	137881108	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4214929	137881108	60141322	151	120542											
ACPL2	92370	broad.mit.edu	37	chr3	141011689	141011689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccatcggccggatgcagcGtgccaccgagggcaggaaag	15	12	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:141011689G>A	uc003etu.2	+	8	1384	c.1085G>A	c.(1084-1086)CGT>CAT	p.R362H	ACPL2_uc003etv.2_Missense_Mutation_p.R362H|ACPL2_uc011bna.1_Missense_Mutation_p.R324H|ACPL2_uc011bnb.1_Missense_Mutation_p.R345H	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	362						extracellular region	acid phosphatase activity			skin(1)	1						CGGATGCAGCGTGCCACCGAG	0.547													A	141011689	G	A	141011689	3	1	238	1	0	0	0	0	1	0	0	0	166	1145	40	1	1103	1	ACPL2	3	141011689	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3130581	141011689	57010741	152	120543											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877787	+	Frame_Shift_Ins	INS	-	-	C													tcggggcccccagccctggcINSccccccggccctggcatgag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:150877785_150877786G>GC	uc003eyp.3	+	6	1133_1134	c.1004_1005G>GC	c.(1003-1005)ggcfs	p.G335fs	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Frame_Shift_Ins_p.G335fs|MED12L_uc003eyo.3_Frame_Shift_Ins_p.G335fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	335					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)			CCCAGCCCTGGCCCCCCCGGCC	0.584													C	150877787	-	C	150877786	7	5	238	1	0	1	1	0	0	0	0	0	9429	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	9866097	150877786	47144644	153	120544											
IGSF10	285313	broad.mit.edu	37	chr3	151162822	151162822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcagcttttcctccaactatCctgggcttttcaaatatata	5	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:151162822C>A	uc011bod.1	-	4	4947	c.4947G>T	c.(4945-4947)AGG>AGT	p.R1649S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1649	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCAACTATCCTGGGCTTTT	0.418													A	151162822	C	A	151162822	3	1	238	1	0	0	0	0	1	0	0	0	7597	854	30	5	2984	5	IGSF10	3	151162822	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	285036	151162822	46859608	154	120545											
MBNL1	4154	broad.mit.edu	37	chr3	152018157	152018157	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgctttgattcattgaaaGtgagtaactattatattctt	6	6	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:152018157G>C	uc003ezm.2	+	1	963	c.174_splice	c.e1+1	p.K58_splice	MBNL1_uc003ezh.2_Splice_Site_p.K58_splice|MBNL1_uc003ezi.2_Splice_Site_p.K58_splice|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Splice_Site_p.K58_splice|MBNL1_uc003ezp.2_Splice_Site_p.K58_splice|MBNL1_uc003ezn.2_Splice_Site_p.K58_splice|MBNL1_uc003ezo.2_Splice_Site_p.K58_splice|MBNL1_uc003ezg.1_Splice_Site	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c						embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCATTGAAAGTGAGTAACTA	0.383													C	152018157	G	C	152018157	5	2	238	1	0	0	0	0	0	0	1	0	9353	1043	36	5	177	5	MBNL1	3	152018157	Splice_Site	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	855335	152018157	46004273	155	120546											
SI	6476	broad.mit.edu	37	chr3	164764796	164764796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaggaaaaactttttgtaCagctctaaaaataaaaccaa	4	6	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:164764796C>T	uc003fei.2	-	16	1782	c.1720G>A	c.(1720-1722)GTA>ATA	p.V574I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	574	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTTTTGTACAGCTCTAAAA	0.299										HNSCC(35;0.089)			T	164764796	C	T	164764796	3	4	238	1	0	0	0	0	1	0	0	0	14297	478	17	4	3895	4	SI	3	164764796	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	12746639	164764796	33257634	156	120547											
SLC2A2	6514	broad.mit.edu	37	chr3	170716931	170716931	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattagaaagagagaacgtcGccctgccttctccacaagga	9	11	1	3	rs34066960		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:170716931G>A	uc003fhe.1	-	9	1402	c.1093C>T	c.(1093-1095)CGA>TGA	p.R365*	SLC2A2_uc003fhf.1_Nonsense_Mutation_p.R192*|SLC2A2_uc011bpu.1_Nonsense_Mutation_p.R238*	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	365	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2	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)			AGAGAACGTCGCCCTGCCTTC	0.398													A	170716931	G	A	170716931	4	1	238	1	0	0	0	0	0	1	0	0	14544	1095	38	1	493	1	SLC2A2	3	170716931	Nonsense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5952135	170716931	27305499	157	120548											
PLD1	5337	broad.mit.edu	37	chr3	171330147	171330147	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattactgaaggaacagtcTctgtatcttgcacaatgaca	7	10	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:171330147T>G	uc003fhs.2	-	25	2920	c.2804A>C	c.(2803-2805)GAG>GCG	p.E935A	PLD1_uc003fht.2_Missense_Mutation_p.E897A|PLD1_uc003fhu.3_Missense_Mutation_p.E229A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	935					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			ovary(2)|lung(1)	3	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)	AGGAACAGTCTCTGTATCTTG	0.502													G	171330147	T	G	171330147	3	3	238	1	0	0	0	0	1	0	0	0	12045	1551	54	5	432	5	PLD1	3	171330147	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	613216	171330147	26692283	158	120549											
NAALADL2	254827	broad.mit.edu	37	chr3	174814908	174814908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcgctgcaacttttgccaCgtcttaaaaatactttgcac	5	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:174814908C>T	uc003fit.2	+	2	459	c.372C>T	c.(370-372)CAC>CAT	p.H124H	NAALADL2_uc003fiu.1_Silent_p.H117H	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	124	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		ACTTTTGCCACGTCTTAAAAA	0.388													T	174814908	C	T	174814908	2	4	238	1	0	0	0	0	0	0	0	1	10130	535	19	1		1	NAALADL2	3	174814908	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3484761	174814908	23207522	159	120550											
TBL1XR1	79718	broad.mit.edu	37	chr3	176769374	176769374	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttggctggctgcagcTgcggcagctgcagcagctgc	15	13	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:176769374T>G	uc003fiw.3	-	5	605	c.345A>C	c.(343-345)GCA>GCC	p.A115A	TBL1XR1_uc003fix.3_Silent_p.A115A|TBL1XR1_uc011bpz.1_5'UTR|TBL1XR1_uc003fiy.2_Silent_p.A115A	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	115	Poly-Ala.				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			ovary(1)	1	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)			TGGCTGCAGCTGCGGCAGCTG	0.478													G	176769374	T	G	176769374	2	3	238	1	0	0	0	0	0	0	0	1	15637	1567	55	5		5	TBL1XR1	3	176769374	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1954466	176769374	21253056	160	120551											
SOX2	6657	broad.mit.edu	37	chr3	181430501	181430501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccggcggaaaaccaagaCgctcatgaagaaggataagt	12	10	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:181430501C>T	uc003fkx.2	+	1	780	c.353C>T	c.(352-354)ACG>ATG	p.T118M	SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	sex-determining region Y-box 2	118					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				0	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)			AAAACCAAGACGCTCATGAAG	0.667			A		NSCLC|oesophageal squamous carcinoma		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						T	181430501	C	T	181430501	3	4	238	1	0	0	0	0	1	0	0	0	14949	536	19	1	355	1	SOX2	3	181430501	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4661127	181430501	16591929	161	120552											
EIF4G1	1981	broad.mit.edu	37	chr3	184041274	184041274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgccacagtgttaatgaccGaagatataaaactgaacaaa	7	7	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr3:184041274G>A	uc003fnp.2	+	15	2365	c.2167G>A	c.(2167-2169)GAA>AAA	p.E723K	EIF4G1_uc003fno.1_Missense_Mutation_p.E664K|EIF4G1_uc010hxw.1_Missense_Mutation_p.E559K|EIF4G1_uc003fnt.2_Missense_Mutation_p.E434K|EIF4G1_uc003fnq.2_Missense_Mutation_p.E636K|EIF4G1_uc003fnr.2_Missense_Mutation_p.E559K|EIF4G1_uc010hxx.2_Missense_Mutation_p.E730K|EIF4G1_uc003fns.2_Missense_Mutation_p.E683K|EIF4G1_uc010hxy.2_Missense_Mutation_p.E730K|EIF4G1_uc003fnv.3_Missense_Mutation_p.E724K|EIF4G1_uc003fnu.3_Missense_Mutation_p.E723K|EIF4G1_uc003fnw.2_Missense_Mutation_p.E730K|EIF4G1_uc003fnx.2_Missense_Mutation_p.E528K|EIF4G1_uc003fny.3_Missense_Mutation_p.E527K|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	723	eIF3/EIF4A-binding.|MIF4G.				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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTAATGACCGAAGATATAAA	0.542													A	184041274	G	A	184041274	3	1	238	1	0	0	0	0	1	0	0	0	5036	1059	37	1	2217	1	EIF4G1	3	184041274	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2610773	184041274	13981156	162	120553											
GAK	2580	broad.mit.edu	37	chr4	906522	906522	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttccaggaaaaggataCcatgaagcaaacttcttgaa	9	8	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:906522C>T	uc003gbm.3	-	3	466	c.267_splice	c.e3+1	p.M89_splice	GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Splice_Site|GAK_uc003gbl.3_5'Flank	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GAAAAGGATACCATGAAGCAA	0.507													T	906522	C	T	906522	5	4	238	1	0	0	0	0	0	0	1	0	6195	521	18	4	3771	4	GAK	4	906522	Splice_Site	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		906522	190247754	163	120554											
KIAA1530	57654	broad.mit.edu	37	chr4	1348597	1348597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacacactcaagctcatcCggaacaagttcctgccggct	9	15	2	0	rs113866137	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:1348597C>T	uc003gde.3	+	6	1456	c.1009C>T	c.(1009-1011)CGG>TGG	p.R337W		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	337											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CAAGCTCATCCGGAACAAGTT	0.622													T	1348597	C	T	1348597	3	4	238	1	0	0	0	0	1	0	0	0	8241	643	23	1	1027	1	KIAA1530	4	1348597	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	442075	1348597	189805679	164	120555											
CPEB2	132864	broad.mit.edu	37	chr4	15054040	15054040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttgttctttattctaggtCgttcttccctctttccaata	4	10	4	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:15054040C>T	uc003gni.1	+	6	955	c.868C>T	c.(868-870)CGT>TGT	p.R290C	CPEB2_uc003gnj.1_Missense_Mutation_p.R260C|CPEB2_uc003gnk.1_Missense_Mutation_p.R298C|CPEB2_uc003gnl.1_Missense_Mutation_p.R271C|CPEB2_uc003gnm.1_Missense_Mutation_p.R268C|CPEB2_uc003gnn.1_Missense_Mutation_p.R263C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	290					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						TATTCTAGGTCGTTCTTCCCT	0.333													T	15054040	C	T	15054040	3	4	238	1	0	0	0	0	1	0	0	0	3801	884	31	1	2238	1	CPEB2	4	15054040	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	13705443	15054040	176100236	165	120556											
GABRA2	2555	broad.mit.edu	37	chr4	46388118	46388118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctggtctaagccgattatCgtaaccatccagaagtctgt	8	11	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:46388118C>T	uc003gxc.3	-	2	833	c.160G>A	c.(160-162)GAT>AAT	p.D54N	GABRA2_uc010igc.2_Missense_Mutation_p.D54N|GABRA2_uc011bzc.1_Silent_p.T21T|GABRA2_uc003gxe.2_Missense_Mutation_p.D54N|GABRA2_uc010igd.1_Missense_Mutation_p.D54N	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	54	Extracellular (Probable).				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			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCCGATTATCGTAACCATCC	0.353													T	46388118	C	T	46388118	3	4	238	1	0	0	0	0	1	0	0	0	6161	884	31	1	1227	1	GABRA2	4	46388118	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	31334078	46388118	144766158	166	120557											
SLAIN2	57606	broad.mit.edu	37	chr4	48422433	48422433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggcataccagtgcctcGcagcaaacttgcacagcctg	12	13	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:48422433G>A	uc003gya.3	+	7	1796	c.1652G>A	c.(1651-1653)CGC>CAC	p.R551H		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	551						centrosome					0						CCAGTGCCTCGCAGCAAACTT	0.517													A	48422433	G	A	48422433	3	1	238	1	0	0	0	0	1	0	0	0	14366	1087	38	1	1678	1	SLAIN2	4	48422433	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2034315	48422433	142731843	167	120558											
KIAA1211	57482	broad.mit.edu	37	chr4	57182333	57182333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcctgcagcggggagcGctcgtggagagaaagagatg	19	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:57182333G>A	uc003hbk.2	+	8	3056	c.2665G>A	c.(2665-2667)GCT>ACT	p.A889T	KIAA1211_uc010iha.2_Missense_Mutation_p.A882T|KIAA1211_uc011bzz.1_Missense_Mutation_p.A799T|KIAA1211_uc003hbm.1_Missense_Mutation_p.A775T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	889										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AGCGGGGAGCGCTCGTGGAGA	0.632													A	57182333	G	A	57182333	3	1	238	1	0	0	0	0	1	0	0	0	8215	1087	38	1	2683	1	KIAA1211	4	57182333	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	8759900	57182333	133971943	168	120559											
HTN1	3346	broad.mit.edu	37	chr4	70920041	70920041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttctttttttccaagagCgctgattcacatgaaaaggt	7	7	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:70920041C>T	uc003hex.2	+	3	121	c.54C>T	c.(52-54)AGC>AGT	p.S18S		NM_002159	NP_002150	P15515	HIS1_HUMAN	histatin 1 precursor	18					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			skin(1)	1						TTTCCAAGAGCGCTGATTCAC	0.229													T	70920041	C	T	70920041	2	4	238	1	0	0	0	0	0	0	0	1	7434	767	27	1		1	HTN1	4	70920041	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	13737708	70920041	120234235	169	120560											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414336	73414336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggttgttaatgggatcGgttatattcccaggcaccag	12	7	0	1	rs139575946	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:73414336G>A	uc003hgk.1	-	3	400	c.363C>T	c.(361-363)ACC>ACT	p.T121T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	121					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			TAATGGGATCGGTTATATTCC	0.473													A	73414336	G	A	73414336	2	1	238	1	0	0	0	0	0	0	0	1	267	1103	39	1		1	ADAMTS3	4	73414336	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2494295	73414336	117739940	170	120561											
ANKRD17	26057	broad.mit.edu	37	chr4	74124068	74124068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgccgccgccgccAcctccgcctccaccgccgcc	10	24	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:74124068A>G	uc003hgp.2	-	1	435	c.318T>C	c.(316-318)GGT>GGC	p.G106G	ANKRD17_uc003hgq.2_Silent_p.G106G|ANKRD17_uc003hgr.2_Silent_p.G106G	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	106	Gly-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			cgccgccgccacctccgcctc	0.383													G	74124068	A	G	74124068	2	3	238	1	0	0	0	0	0	0	0	1	646	146	6	3		3	ANKRD17	4	74124068	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	709732	74124068	117030208	171	120562											
AFF1	4299	broad.mit.edu	37	chr4	87968290	87968290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgacagattcggctccAgagagggagctttctccctt	12	11	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:87968290A>G	uc003hqj.3	+	3	989	c.582A>G	c.(580-582)CCA>CCG	p.P194P	AFF1_uc011ccx.1_Silent_p.P135P|AFF1_uc003hqh.1_Silent_p.P201P|AFF1_uc011ccy.1_Silent_p.P201P|AFF1_uc011ccz.1_Silent_p.P201P|AFF1_uc003hqk.3_Silent_p.P194P|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	194						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATTCGGCTCCAGAGAGGGAGC	0.542													G	87968290	A	G	87968290	2	3	238	1	0	0	0	0	0	0	0	1	356	175	7	3		3	AFF1	4	87968290	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	13844222	87968290	103185986	172	120563											
SMARCAD1	56916	broad.mit.edu	37	chr4	95129604	95129604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaataagattgaggaagCgcccgaagcaacccctcaac	10	11	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:95129604C>T	uc003htc.3	+	2	314	c.59C>T	c.(58-60)GCG>GTG	p.A20V	SMARCAD1_uc003htb.3_Missense_Mutation_p.A20V|SMARCAD1_uc003htd.3_Missense_Mutation_p.A20V|SMARCAD1_uc010ila.2_5'UTR	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	20					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			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATTGAGGAAGCGCCCGAAGCA	0.483													T	95129604	C	T	95129604	3	4	238	1	0	0	0	0	1	0	0	0	14772	768	27	1	61	1	SMARCAD1	4	95129604	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7161314	95129604	96024672	173	120564											
KIAA1109	84162	broad.mit.edu	37	chr4	123147974	123147974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatggaattgatcgtcGgttctgtgaatccaaggtat	11	7	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:123147974G>A	uc003ieh.2	+	22	2951	c.2906G>A	c.(2905-2907)CGG>CAG	p.R969Q	KIAA1109_uc003iei.1_Missense_Mutation_p.R722Q|KIAA1109_uc010ins.1_Missense_Mutation_p.R312Q|KIAA1109_uc003iej.1_3'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	969					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATTGATCGTCGGTTCTGTGAA	0.328													A	123147974	G	A	123147974	3	1	238	1	0	0	0	0	1	0	0	0	8208	1116	39	1	2992	1	KIAA1109	4	123147974	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	28018370	123147974	68006302	174	120565											
ADAD1	132612	broad.mit.edu	37	chr4	123329116	123329116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaatacaattacagccagGacattaagccagatggaaga	10	7	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:123329116G>A	uc003ieo.2	+	8	1010	c.778G>A	c.(778-780)GAC>AAC	p.D260N	ADAD1_uc003iep.2_Missense_Mutation_p.D260N|ADAD1_uc003ieq.2_Missense_Mutation_p.D242N	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	260	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TTACAGCCAGGACATTAAGCC	0.378													A	123329116	G	A	123329116	3	1	238	1	0	0	0	0	1	0	0	0	231	1174	41	4	800	4	ADAD1	4	123329116	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	181142	123329116	67825160	175	120566											
FAT4	79633	broad.mit.edu	37	chr4	126238488	126238488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgggacttatcacggtgCgggagcccctggacttcgaa	14	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:126238488C>T	uc003ifj.3	+	1	922	c.922C>T	c.(922-924)CGG>TGG	p.R308W		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	308	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TATCACGGTGCGGGAGCCCCT	0.667											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126238488	C	T	126238488	3	4	238	1	0	0	0	0	1	0	0	0	5692	759	27	1	924	1	FAT4	4	126238488	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2909372	126238488	64915788	176	120567											
FAT4	79633	broad.mit.edu	37	chr4	126239459	126239459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagactgaccggaggtcCttccgtctggatcctgtgtc	13	12	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:126239459C>T	uc003ifj.3	+	1	1893	c.1893C>T	c.(1891-1893)TCC>TCT	p.S631S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	631	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCGGAGGTCCTTCCGTCTGG	0.552													T	126239459	C	T	126239459	2	4	238	1	0	0	0	0	0	0	0	1	5692	668	24	4		4	FAT4	4	126239459	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	971	126239459	64914817	177	120568											
PCDH10	57575	broad.mit.edu	37	chr4	134084242	134084242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgccaggctgctgattatCgcagcaatctgcatgttcct	10	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:134084242C>T	uc003iha.2	+	4	3734	c.2908C>T	c.(2908-2910)CGC>TGC	p.R970C		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	970	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCTGATTATCGCAGCAATCT	0.532													T	134084242	C	T	134084242	3	4	238	1	0	0	0	0	1	0	0	0	11507	884	31	1	2982	1	PCDH10	4	134084242	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7844783	134084242	57070034	178	120569											
INPP4B	8821	broad.mit.edu	37	chr4	143094958	143094958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtaaataaactggtatcCggtactgcaacaacaaagat	7	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:143094958C>T	uc003iix.3	-	17	1781	c.1186G>A	c.(1186-1188)GGA>AGA	p.G396R	INPP4B_uc003iiw.3_Missense_Mutation_p.G396R|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.G211R|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.G267R	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	396					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					AACTGGTATCCGGTACTGCAA	0.363													T	143094958	C	T	143094958	3	4	238	1	0	0	0	0	1	0	0	0	7753	661	23	1	1632	1	INPP4B	4	143094958	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	9010716	143094958	48059318	179	120570											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia 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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	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								A	153249385	G	A	153249385	3	1	238	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	10154427	153249385	37904891	180	120571											
TRIM2	23321	broad.mit.edu	37	chr4	154237032	154237032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttttggcatacggggaCgctctccggggcagctgcag	16	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:154237032C>T	uc003ing.2	+	8	1783	c.1582C>T	c.(1582-1584)CGC>TGC	p.R528C	TRIM2_uc003inh.2_Missense_Mutation_p.R555C	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	528	NHL 2.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CATACGGGGACGCTCTCCGGG	0.458													T	154237032	C	T	154237032	3	4	238	1	0	0	0	0	1	0	0	0	16491	536	19	1	1693	1	TRIM2	4	154237032	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	987647	154237032	36917244	181	120572											
ADAM29	11086	broad.mit.edu	37	chr4	175898317	175898318	+	Frame_Shift_Ins	INS	-	-	A													atataaagtgtaatatctcaINSgatgtccagtgtggaagaat							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:175898316_175898317C>CA	uc003iuc.3	+	4	2310_2311	c.1640_1641C>CA	c.(1639-1641)tcafs	p.S547fs	ADAM29_uc003iud.3_Frame_Shift_Ins_p.S547fs|ADAM29_uc010irr.3_Frame_Shift_Ins_p.S547fs|ADAM29_uc011cki.2_Frame_Shift_Ins_p.S547fs|ADAM29_uc021xuo.1_Frame_Shift_Ins_p.S547fs	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	547	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)		TGTAATATCTCAGATGTCCAGT	0.386													A	175898318	-	A	175898317	7	5	238	1	0	1	1	0	0	0	0	0	247	175	7	0	1643	0	ADAM29	4	175898317	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	21661285	175898317	15255959	182	120573											
WWC2	80014	broad.mit.edu	37	chr4	184175073	184175073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacccaagatgaattagaaCgcctagaagctgaaaggcag	11	8	0	5			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr4:184175073C>T	uc010irx.2	+	9	1299	c.1117C>T	c.(1117-1119)CGC>TGC	p.R373C	WWC2_uc003ivk.3_Missense_Mutation_p.R168C|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.R55C	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	373	Potential.									ovary(2)|lung(1)	3		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)		TGAATTAGAACGCCTAGAAGC	0.448													T	184175073	C	T	184175073	3	4	238	1	0	0	0	0	1	0	0	0	17409	536	19	1	1151	1	WWC2	4	184175073	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	8276756	184175073	6979203	183	120574											
TERT	7015	broad.mit.edu	37	chr5	1268637	1268637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaggaggcctcacccGtcccgccgaatccccgcaaa	12	16	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:1268637G>A	uc003jcb.1	-	9	2638	c.2580C>T	c.(2578-2580)GAC>GAT	p.D860D	TERT_uc003jbz.1_Silent_p.D56D|TERT_uc003jca.1_Silent_p.D848D|TERT_uc003jcc.1_Silent_p.D860D|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	860	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			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	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)			GGCCTCACCCGTCCCGCCGAA	0.597									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				A	1268637	G	A	1268637	2	1	238	1	0	0	0	0	0	0	0	1	15761	1136	40	1		1	TERT	5	1268637	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		1268637	179646623	184	120575											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239334	5239334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgtgtaacgggaataActcagcctgcacgattcaca	12	9	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:5239334A>C	uc003jdl.2	+	15	2363	c.2225A>C	c.(2224-2226)AAC>ACC	p.N742T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.N742T|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	742	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						AACGGGAATAACTCAGCCTGC	0.512													C	5239334	A	C	5239334	3	2	238	1	0	0	0	0	1	0	0	0	261	43	2	5	2283	5	ADAMTS16	5	5239334	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	3970697	5239334	175675926	185	120576											
TRIO	7204	broad.mit.edu	37	chr5	14359556	14359556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggacgaggcgcagtcGcagatggaggagctcttcca	15	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:14359556G>A	uc003jff.2	+	13	2313	c.2307G>A	c.(2305-2307)TCG>TCA	p.S769S	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.S720S|TRIO_uc003jfh.1_Silent_p.S418S	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	769					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGGCGCAGTCGCAGATGGAGG	0.612													A	14359556	G	A	14359556	2	1	238	1	0	0	0	0	0	0	0	1	16549	1074	38	1		1	TRIO	5	14359556	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	9120222	14359556	166555704	186	120577											
ZFR	51663	broad.mit.edu	37	chr5	32395284	32395284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatttccattctccaacGctcctcttcttctcgtcttc	2	18	6	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:32395284G>A	uc003jhr.1	-	11	2040	c.1960C>T	c.(1960-1962)CGT>TGT	p.R654C	MIR579_hsa-mir-579|MI0003586_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	654					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		ATTCTCCAACGCTCCTCTTCT	0.408													A	32395284	G	A	32395284	3	1	238	1	0	0	0	0	1	0	0	0	17656	1087	38	1	1304	1	ZFR	5	32395284	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	18035728	32395284	148519976	187	120578											
C5orf42	65250	broad.mit.edu	37	chr5	37169215	37169215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtaattacagtttctGcccacgtcttctgctcaact	5	12	5	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:37169215G>A	uc011cpa.1	-	34	7142	c.6911C>T	c.(6910-6912)GCA>GTA	p.A2304V	C5orf42_uc011coy.1_Missense_Mutation_p.A804V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.A1379V|C5orf42_uc003jkr.1_Missense_Mutation_p.A337V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2304										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TACAGTTTCTGCCCACGTCTT	0.393													A	37169215	G	A	37169215	3	1	238	1	0	0	0	0	1	0	0	0	2301	1319	46	2	2758	2	C5orf42	5	37169215	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4773931	37169215	143746045	188	120579											
CMYA5	202333	broad.mit.edu	37	chr5	79025504	79025504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttccaccctggagaggcGcactctccaaaggatcagag	10	12	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:79025504G>A	uc003kgc.2	+	2	988	c.916G>A	c.(916-918)GCA>ACA	p.A306T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	306						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		CTGGAGAGGCGCACTCTCCAA	0.408													A	79025504	G	A	79025504	3	1	238	1	0	0	0	0	1	0	0	0	3590	1087	38	1	922	1	CMYA5	5	79025504	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	41856289	79025504	101889756	189	120580											
LNPEP	4012	broad.mit.edu	37	chr5	96314863	96314863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcttcagctccccaggaAtatgattgaaaacagcatgt	9	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:96314863A>C	uc003kmv.1	+	2	555	c.41A>C	c.(40-42)AAT>ACT	p.N14T	LNPEP_uc003kmw.1_5'UTR	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	14	Cytoplasmic (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		CTCCCCAGGAATATGATTGAA	0.383													C	96314863	A	C	96314863	3	2	238	1	0	0	0	0	1	0	0	0	8864	101	4	5	47	5	LNPEP	5	96314863	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	17289359	96314863	84600397	190	120581											
SLCO6A1	133482	broad.mit.edu	37	chr5	101816044	101816044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggccagatgaaatatcGtaactcttttccaatgccaa	6	11	1	2	rs143064096	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:101816044G>A	uc003knn.2	-	2	625	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y	SLCO6A1_uc003kno.2_Silent_p.Y151Y|SLCO6A1_uc003knp.2_Silent_p.Y151Y|SLCO6A1_uc003knq.2_Silent_p.Y151Y	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	151	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		ATGAAATATCGTAACTCTTTT	0.358													A	101816044	G	A	101816044	2	1	238	1	0	0	0	0	0	0	0	1	14732	1140	40	1		1	SLCO6A1	5	101816044	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5501181	101816044	79099216	191	120582											
EFNA5	1946	broad.mit.edu	37	chr5	106763050	106763050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattcccatctcttgaaccCtttggaagtgtggtcgcagg	10	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:106763050C>A	uc003kol.2	-	2	568	c.286G>T	c.(286-288)GGG>TGG	p.G96W	EFNA5_uc010jbr.1_Missense_Mutation_p.G96W	NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	96					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CTCTTGAACCCTTTGGAAGTG	0.488													A	106763050	C	A	106763050	3	1	238	1	0	0	0	0	1	0	0	0	4954	681	24	5	416	5	EFNA5	5	106763050	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4947006	106763050	74152210	192	120583											
TGFBI	7045	broad.mit.edu	37	chr5	135388731	135388731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcactatcaacgggaaggCgatcatctccaataaagaca	8	11	4	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:135388731C>T	uc003lbf.3	+	8	1210	c.1049C>T	c.(1048-1050)GCG>GTG	p.A350V	TGFBI_uc003lbg.3_Missense_Mutation_p.A83V|TGFBI_uc003lbh.3_Missense_Mutation_p.A176V|TGFBI_uc011cyb.1_Missense_Mutation_p.A176V|TGFBI_uc010jed.2_Missense_Mutation_p.A83V	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	350	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACGGGAAGGCGATCATCTCC	0.587													T	135388731	C	T	135388731	3	4	238	1	0	0	0	0	1	0	0	0	15817	768	27	1	1079	1	TGFBI	5	135388731	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	28625681	135388731	45526529	193	120584											
PCDHA2	56146	broad.mit.edu	37	chr5	140176376	140176376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacgcgtggctttcgtaCgagcttcagctgggtactgg	13	10	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140176376C>T	uc003lhd.2	+	1	1933	c.1827C>T	c.(1825-1827)TAC>TAT	p.Y609Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.Y609Y|PCDHA2_uc011czy.1_Silent_p.Y609Y	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	609	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTTCGTACGAGCTTCAGC	0.647													T	140176376	C	T	140176376	2	4	238	1	0	0	0	0	0	0	0	1	11524	547	19	1		1	PCDHA2	5	140176376	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4787645	140176376	40738884	194	120585											
PCDHA10	56139	broad.mit.edu	37	chr5	140237092	140237092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggacgcgcaggagaacGccctggtgtcctactctctg	13	14	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140237092G>A	uc003lhx.2	+	1	1459	c.1459G>A	c.(1459-1461)GCC>ACC	p.A487T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A487T|PCDHA10_uc011dad.1_Missense_Mutation_p.A487T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	487	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.657													A	140237092	G	A	140237092	3	1	238	1	0	0	0	0	1	0	0	0	11520	1087	38	1	1461	1	PCDHA10	5	140237092	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	60716	140237092	40678168	195	120586											
PCDHB1	29930	broad.mit.edu	37	chr5	140431352	140431352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcactttgtggcaaagcCgacccttgtgttctgcactt	10	11	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140431352C>T	uc003lik.1	+	1	374	c.297C>T	c.(295-297)GCC>GCT	p.A99A		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	99	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCAAAGCCGACCCTTGTG	0.522													T	140431352	C	T	140431352	2	4	238	1	0	0	0	0	0	0	0	1	11534	639	23	1		1	PCDHB1	5	140431352	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	194260	140431352	40483908	196	120587											
PCDHB5	26167	broad.mit.edu	37	chr5	140515665	140515665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacactcactgcactggacGgtggggctccgcccaggtcc	12	15	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140515665G>A	uc003liq.2	+	1	866	c.649G>A	c.(649-651)GGT>AGT	p.G217S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	217	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCACTGGACGGTGGGGCTCC	0.542													A	140515665	G	A	140515665	3	1	238	1	0	0	0	0	1	0	0	0	11545	1116	39	1	651	1	PCDHB5	5	140515665	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	84313	140515665	40399595	197	120588											
PCDHB11	56125	broad.mit.edu	37	chr5	140580109	140580109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaagattcgggagaaTagcatccttggctcgctgat	14	7	0	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140580109T>G	uc003liy.2	+	1	762	c.762T>G	c.(760-762)AAT>AAG	p.N254K	PCDHB11_uc011daj.1_5'UTR	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	254	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGGAGAATAGCATCCTTG	0.453													G	140580109	T	G	140580109	3	3	238	1	0	0	0	0	1	0	0	0	11536	1403	49	5	764	5	PCDHB11	5	140580109	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	64444	140580109	40335151	198	120589											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725805	140725805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggcttggcgagtacGcccggctcgcactttgtggg	18	11	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:140725805G>A	uc003ljm.1	+	1	2205	c.2205G>A	c.(2203-2205)ACG>ACA	p.T735T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T495T|PCDHGA3_uc011dap.1_Silent_p.T735T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	735	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGAGTACGCCCGGCTCGC	0.672													A	140725805	G	A	140725805	2	1	238	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDHGA3	5	140725805	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	145696	140725805	40189455	199	120590											
HDAC3	8841	broad.mit.edu	37	chr5	141005843	141005843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcttgacatattcaaCgcattccctgttaaaaggaa	7	9	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:141005843C>T	uc003llf.2	-	11	904	c.838G>A	c.(838-840)GTT>ATT	p.V280I	HDAC3_uc003lle.1_Missense_Mutation_p.V223I	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	280	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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	ACATATTCAACGCATTCCCTG	0.378													T	141005843	C	T	141005843	3	4	238	1	0	0	0	0	1	0	0	0	7008	536	19	1	468	1	HDAC3	5	141005843	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	280038	141005843	39909417	200	120591											
PPP2R2B	5521	broad.mit.edu	37	chr5	145969658	145969658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttctccgcttgccccccAcacacacttttcggggtttg	7	16	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:145969658A>C	uc003loe.2	-	9	1709	c.1184T>G	c.(1183-1185)GTG>GGG	p.V395G	PPP2R2B_uc010jgm.2_Missense_Mutation_p.V384G|PPP2R2B_uc003log.3_Missense_Mutation_p.V395G|PPP2R2B_uc003lof.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loi.3_Missense_Mutation_p.V398G|PPP2R2B_uc003loh.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loj.3_Missense_Mutation_p.V375G|PPP2R2B_uc003lok.3_Missense_Mutation_p.V384G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.V401G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.V453G	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	395					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V398G(1)		ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCCCCCCACACACACTTT	0.488													C	145969658	A	C	145969658	3	2	238	1	0	0	0	0	1	0	0	0	12385	159	6	5	151	5	PPP2R2B	5	145969658	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	4963815	145969658	34945602	201	120592											
FBXO38	81545	broad.mit.edu	37	chr5	147807089	147807089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctagccctacagaagtGgatgtgtccaggcagtgtgc	14	10	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:147807089G>A	uc003lpf.1	+	15	2352	c.2232G>A	c.(2230-2232)GTG>GTA	p.V744V	FBXO38_uc003lpg.1_Silent_p.V744V|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	744						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACAGAAGTGGATGTGTCCA	0.592													A	147807089	G	A	147807089	2	1	238	1	0	0	0	0	0	0	0	1	5746	1335	47	4		4	FBXO38	5	147807089	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1837431	147807089	33108171	202	120593											
PPARGC1B	133522	broad.mit.edu	37	chr5	149225326	149225326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctccctccccgcagaggCgagaagtacggcttcatcac	10	15	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:149225326C>T	uc003lrc.2	+	11	2862	c.2820C>T	c.(2818-2820)GGC>GGT	p.G940G	PPARGC1B_uc003lrb.1_Silent_p.G940G|PPARGC1B_uc003lrd.2_Silent_p.G901G|PPARGC1B_uc003lrf.2_Silent_p.G919G|PPARGC1B_uc003lre.1_Silent_p.G919G	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	940	RRM.				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				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCGCAGAGGCGAGAAGTACG	0.587													T	149225326	C	T	149225326	2	4	238	1	0	0	0	0	0	0	0	1	12301	755	27	1		1	PPARGC1B	5	149225326	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1418237	149225326	31689934	203	120594											
HAVCR1	26762	broad.mit.edu	37	chr5	156479516	156479516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcattgtcgtcagaacagTcgttgtcgttggaatgctca	11	8	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:156479516T>C	uc010jij.1	-	4	714	c.529A>G	c.(529-531)ACT>GCT	p.T177A	HAVCR1_uc011ddl.1_Missense_Mutation_p.T8A|HAVCR1_uc003lwi.2_Missense_Mutation_p.T177A|HAVCR1_uc011ddm.1_Missense_Mutation_p.T177A	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	172	Extracellular (Potential).|6.|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			GTCAGAACAGTCGTTGTCGTT	0.468													C	156479516	T	C	156479516	3	2	238	1	0	0	0	0	1	0	0	0	6973	1667	58	3	589	3	HAVCR1	5	156479516	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	7254190	156479516	24435744	204	120595											
CLINT1	9685	broad.mit.edu	37	chr5	157214842	157214842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagtatttccaagaggggCcattcccatggtgccagtca	12	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:157214842C>T	uc003lxj.1	-	12	1880	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	CLINT1_uc003lxg.1_Missense_Mutation_p.A101T|CLINT1_uc003lxh.1_Missense_Mutation_p.A138T|CLINT1_uc003lxi.1_Missense_Mutation_p.A564T|CLINT1_uc011ddv.1_Missense_Mutation_p.A582T	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	564	Met-rich.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	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)			CCAAGAGGGGCCATTCCCATG	0.532													T	157214842	C	T	157214842	3	4	238	1	0	0	0	0	1	0	0	0	3531	739	26	2	191	2	CLINT1	5	157214842	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	735326	157214842	23700418	205	120596											
CCNJL	79616	broad.mit.edu	37	chr5	159680556	159680556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcggttggtacggggtGtggagggatgagcctgtact	19	6	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:159680556G>A	uc003lyb.1	-	7	1389	c.1137C>T	c.(1135-1137)CAC>CAT	p.H379H	CCNJL_uc011dee.1_Silent_p.H331H|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	379						nucleus					0	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)			GGTACGGGGTGTGGAGGGATG	0.632													A	159680556	G	A	159680556	2	1	238	1	0	0	0	0	0	0	0	1	2929	1368	48	4		4	CCNJL	5	159680556	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2465714	159680556	21234704	206	120597											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070219	176070219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagagggaaggcccggaCggggggccccatggaagtca	18	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:176070219C>T	uc010jkf.1	+	4	736	c.152C>T	c.(151-153)ACG>ATG	p.T51M		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	51					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|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)			AAGGCCCGGACGGGGGGCCCC	0.353													T	176070219	C	T	176070219	3	4	238	1	0	0	0	0	1	0	0	0	5029	536	19	1	158	1	EIF4E1B	5	176070219	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	16389663	176070219	4845041	207	120598											
NHP2	55651	broad.mit.edu	37	chr5	177577890	177577890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccacgtgctccttaccGtcttagaggggatatagaca	13	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr5:177577890G>A	uc003mir.2	-	3	478	c.335C>T	c.(334-336)ACG>ATG	p.T112M	NHP2_uc003mis.2_Intron	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	112					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						GCTCCTTACCGTCTTAGAGGG	0.473													A	177577890	G	A	177577890	3	1	238	1	0	0	0	0	1	0	0	0	10409	1159	40	1	134	1	NHP2	5	177577890	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1507671	177577890	3337370	208	120599											
EXOC2	55770	broad.mit.edu	37	chr6	637794	637795	+	Frame_Shift_Ins	INS	-	-	G													ggagagatgccggtcacaagINSggggggttgtcgtgatcgag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:637793_637794A>AG	uc003mtd.3	-	1	159_160	c.25_26T>CT	c.(25-27)cttfs	p.L9fs	EXOC2_uc003mte.3_Frame_Shift_Ins_p.L9fs|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		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)		GCCGGTCACAAGGGGGGGTTGT	0.485													G	637795	-	G	637794	7	5	238	1	0	1	1	0	0	0	0	0	5302	1000	35	0	2857	0	EXOC2	6	637794	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08		637794	170477273	209	120600											
DTNBP1	84062	broad.mit.edu	37	chr6	15638038	15638038	+	Splice_Site	DEL	A	A	-													gcccatgtatcctcatacctAaaaaaaagcaaaaaataatt					rs140124163		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome				-	15638038	A	-	15638038	8	5	238	1	0	1	0	1	0	0	1	0	4790	377	13	0		0	DTNBP1	6	15638038	Splice_Site	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	15000244	15638038	155477029	210	120601											
RBM24	221662	broad.mit.edu	37	chr6	17292146	17292146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgccgccgcCgctgctgcctatgaccagta	12	16	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:17292146C>T	uc003nbz.3	+	4	511	c.507C>T	c.(505-507)GCC>GCT	p.A169A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A111A|RBM24_uc003nca.2_Silent_p.A124A|RBM24_uc011diy.1_Missense_Mutation_p.P83L|RBM24_uc011diz.1_Missense_Mutation_p.P68L	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	169	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ctgccgccgccgctgctgcCT	0.488													T	17292146	C	T	17292146	2	4	238	1	0	0	0	0	0	0	0	1	13124	639	23	1		1	RBM24	6	17292146	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1654108	17292146	153822921	211	120602											
BTN2A2	10385	broad.mit.edu	37	chr6	26390936	26390936	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttcaagaagaattgcGtaagtttagcctttcctgaa	8	8	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:26390936G>A	uc003nhq.2	+	6	1038	c.952_splice	c.e6+1	p.R318_splice	BTN2A2_uc011dkf.1_3'UTR|BTN2A2_uc011dkg.1_Splice_Site_p.R224_splice|BTN2A2_uc003nhr.2_Splice_Site_p.R202_splice|BTN2A2_uc011dkh.1_Splice_Site_p.R108_splice|BTN2A2_uc003nhs.2_Splice_Site_p.R318_splice|BTN2A2_uc003nht.2_Splice_Site_p.R318_splice|BTN2A2_uc011dki.1_Splice_Site_p.R67_splice	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a						negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						GAAGAATTGCGTAAGTTTAGC	0.388													A	26390936	G	A	26390936	5	1	238	1	0	0	0	0	0	0	1	0	1561	1159	40	1	971	1	BTN2A2	6	26390936	Splice_Site	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	9098790	26390936	144724131	212	120603											
ZNF323	64288	broad.mit.edu	37	chr6	28294178	28294178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgaggaggaaagccttcCcacacactttgcattcatat	8	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:28294178C>A	uc003nla.2	-	4	1386	c.986G>T	c.(985-987)GGG>GTG	p.G329V	ZNF323_uc003nld.2_Missense_Mutation_p.G329V|ZNF323_uc010jra.2_Missense_Mutation_p.G329V|ZNF323_uc003nlb.2_Missense_Mutation_p.G170V|ZNF323_uc010jrb.2_Missense_Mutation_p.G170V|ZNF323_uc003nlc.2_Missense_Mutation_p.G329V	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	329	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GAAAGCCTTCCCACACACTTT	0.498													A	28294178	C	A	28294178	3	1	238	1	0	0	0	0	1	0	0	0	17840	623	22	5	238	5	ZNF323	6	28294178	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1903242	28294178	142820889	213	120604											
GPX5	2880	broad.mit.edu	37	chr6	28497328	28497328	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagcagtatgtgggcaagcAcatcctcttcgtcaacgtgg	11	11	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:28497328A>T	uc003nll.2	+	2	190	c.188A>T	c.(187-189)CAC>CTC	p.H63L	GPX5_uc003nlm.2_Missense_Mutation_p.H63L|GPX5_uc003nln.2_RNA	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	63					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)	GTGGGCAAGCACATCCTCTTC	0.438													T	28497328	A	T	28497328	3	4	238	1	0	0	0	0	1	0	0	0	6743	159	6	5	194	5	GPX5	6	28497328	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	203150	28497328	142617739	214	120605											
SCAND3	114821	broad.mit.edu	37	chr6	28540408	28540408	+	Frame_Shift_Del	DEL	T	T	-													aaaagttgggaccacatgggTttcttgccttgcagaaacac							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:28540407_28540407GT>G	uc003nlo.3	-	3	3877	c.3259_3259AC>C	c.(3259-3261)cccfs	p.P1087fs		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1087					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						gaccacatgggtttcttgcct	0.378													-	28540408	T	-	28540408	7	5	238	1	0	1	0	1	0	0	0	0	13876	1722	60	0	723	0	SCAND3	6	28540408	Frame_Shift_Del	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	43080	28540408	142574659	215	120606											
FLOT1	10211	broad.mit.edu	37	chr6	30709013	30709013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctggtggccctctaacGtctccagggcaatgtgggca	12	14	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:30709013G>A	uc003nrm.2	-	5	472	c.308C>T	c.(307-309)ACG>ATG	p.T103M	FLOT1_uc011dmr.1_Intron	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	103						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						GCCCTCTAACGTCTCCAGGGC	0.587													A	30709013	G	A	30709013	3	1	238	1	0	0	0	0	1	0	0	0	5936	1145	40	1	1011	1	FLOT1	6	30709013	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2168605	30709013	140406054	216	120607											
BAT2	7916	broad.mit.edu	37	chr6	31604191	31604191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcctgacacatcgttgCttcaggtaagaggggggcag	14	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31604191C>T	uc003nvb.3	+	26	6079	c.5830C>T	c.(5830-5832)CTT>TTT	p.L1944F	BAT2_uc003nvc.3_Missense_Mutation_p.L1944F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1944	3-1.|3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding				0						CACATCGTTGCTTCAGGTAAG	0.532													T	31604191	C	T	31604191	3	4	238	1	0	0	0	0	1	0	0	0	1319	797	28	2	5928	2	BAT2	6	31604191	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	895178	31604191	139510876	217	120608											
BAT5	7920	broad.mit.edu	37	chr6	31656035	31656035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcactcacgtggtggtgAtgatctcatccttggttctc	10	12	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31656035A>G	uc003nvy.1	-	15	1328	c.1298T>C	c.(1297-1299)ATC>ACC	p.I433T	BAT5_uc003nvx.1_Missense_Mutation_p.I214T|BAT5_uc011dny.1_Missense_Mutation_p.I400T|BAT5_uc003nvz.1_Missense_Mutation_p.I214T|BAT5_uc011dnz.1_Missense_Mutation_p.I214T	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	433						integral to membrane	hydrolase activity|protein binding				0						CGTGGTGGTGATGATCTCATC	0.562													G	31656035	A	G	31656035	3	3	238	1	0	0	0	0	1	0	0	0	1324	333	12	3	402	3	BAT5	6	31656035	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	51844	31656035	139459032	218	120609											
CLIC1	1192	broad.mit.edu	37	chr6	31698703	31698703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgaattcttcccgggcGtaggcattgctcaagtaccg	12	11	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31698703G>A	uc003nwr.2	-	6	906	c.642C>T	c.(640-642)TAC>TAT	p.Y214Y	DDAH2_uc003nwp.2_5'Flank|DDAH2_uc003nwq.2_5'Flank|CLIC1_uc003rje.2_Silent_p.Y214Y	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	214	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			ovary(1)|central_nervous_system(1)	2						CTTCCCGGGCGTAGGCATTGC	0.582													A	31698703	G	A	31698703	2	1	238	1	0	0	0	0	0	0	0	1	3525	1140	40	1		1	CLIC1	6	31698703	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	42668	31698703	139416364	219	120610											
C6orf27	80737	broad.mit.edu	37	chr6	31733484	31733484	+	Frame_Shift_Del	DEL	A	A	-													agtcaccaatgtgaagggggAaaaggcaggggtggccgtgg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31733484delA	uc011dog.1	-	17	2801	c.2563delT	c.(2563-2565)TCCfs	p.S855fs		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	855						extracellular region				ovary(3)	3						GTGAAGGGGGAAAAGGCAGGG	0.642													-	31733484	A	-	31733484	7	5	238	1	0	1	0	1	0	0	0	0	2362	246	9	0	115	0	C6orf27	6	31733484	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	34781	31733484	139381583	220	120611											
HSPA1A	3303	broad.mit.edu	37	chr6	31785384	31785384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagggtgccggtggtccCgggcctgggggcttcggggc	20	12	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31785384C>T	uc003nxj.2	+	1	2094	c.1851C>T	c.(1849-1851)CCC>CCT	p.P617P	HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc003nxi.1_Silent_p.P452P|uc011dok.1_RNA	NM_005345	NP_005336	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	617					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			ovary(1)	1						CCGGTGGTCCCGGGCCTGGGG	0.602													T	31785384	C	T	31785384	2	4	238	1	0	0	0	0	0	0	0	1	7408	639	23	1		1	HSPA1A	6	31785384	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	51900	31785384	139329683	221	120612											
SKIV2L	6499	broad.mit.edu	37	chr6	31936192	31936192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagccggacctcccaccctCgaccctgtcaatgacctgca	7	20	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:31936192C>T	uc003nyn.1	+	24	3335	c.2946C>T	c.(2944-2946)CTC>CTT	p.L982L	SKIV2L_uc011dou.1_Silent_p.L824L|SKIV2L_uc011dov.1_Silent_p.L789L|STK19_uc003nyt.2_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	982						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CTCCCACCCTCGACCCTGTCA	0.627													T	31936192	C	T	31936192	2	4	238	1	0	0	0	0	0	0	0	1	14359	871	31	1		1	SKIV2L	6	31936192	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	150808	31936192	139178875	222	120613											
TAP2	6891	broad.mit.edu	37	chr6	32782846	32782846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccacagtgaagggtgcGcccagcctgtagttgtgtct	12	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:32782846G>A	uc011dqf.1	-	13	2279	c.2157C>T	c.(2155-2157)GGC>GGT	p.G719G	HLA-DOB_uc003oca.2_Silent_p.G112G|HLA-DOB_uc011dqg.1_Silent_p.G112G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					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				0						TGAAGGGTGCGCCCAGCCTGT	0.592													A	32782846	G	A	32782846	2	1	238	1	0	0	0	0	0	0	0	1	15548	1074	38	1		1	TAP2	6	32782846	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	846654	32782846	138332221	223	120614											
ITPR3	3710	broad.mit.edu	37	chr6	33657074	33657074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatctgcttctccatcGcggccctgttcaccaagcgc	7	18	4	0	rs139676554		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:33657074G>T	uc011drk.1	+	50	6973	c.6754G>T	c.(6754-6756)GCG>TCG	p.A2252S	ITPR3_uc003oey.2_Missense_Mutation_p.A339S	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2252	Helical; (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CTTCTCCATCGCGGCCCTGTT	0.627													T	33657074	G	T	33657074	3	4	238	1	0	0	0	0	1	0	0	0	7922	1087	38	5	6952	5	ITPR3	6	33657074	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	874228	33657074	137457993	224	120615											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826502	34826502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatcaggacttacagaagTcatggaaattctgaaagaag	9	6	3	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:34826502T>C	uc003oju.3	+	14	2603	c.2369T>C	c.(2368-2370)GTC>GCC	p.V790A	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	790										ovary(3)	3						CTTACAGAAGTCATGGAAATT	0.483													C	34826502	T	C	34826502	3	2	238	1	0	0	0	0	1	0	0	0	16965	1667	58	3	2423	3	UHRF1BP1	6	34826502	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1169428	34826502	136288565	225	120616											
MAPK13	5603	broad.mit.edu	37	chr6	36106833	36106833	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtggatgaatggaagcGtaagagctggggcctcgggc	17	8	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:36106833G>A	uc003ols.2	+	11	1116	c.1018_splice	c.e11+1	p.Q340_splice	MAPK13_uc003olt.2_Splice_Site	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13						cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						GAATGGAAGCGTAAGAGCTGG	0.582													A	36106833	G	A	36106833	5	1	238	1	0	0	0	0	0	0	1	0	9275	1159	40	1	1061	1	MAPK13	6	36106833	Splice_Site	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1280331	36106833	135008234	226	120617											
PRPH2	5961	broad.mit.edu	37	chr6	42666224	42666224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacgtctgtaggtagcGcagcccaattgtaatggtca	12	10	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:42666224G>A	uc003osk.2	-	3	1136	c.850C>T	c.(850-852)CGC>TGC	p.R284C		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	284	Helical; (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTAGGTAGCGCAGCCCAATT	0.587													A	42666224	G	A	42666224	3	1	238	1	0	0	0	0	1	0	0	0	12577	1087	38	1	194	1	PRPH2	6	42666224	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	6559391	42666224	128448843	227	120618											
MRPL2	51069	broad.mit.edu	37	chr6	43022174	43022174	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatgacccgtttgttAtgatcaacgttggatactcg	9	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:43022174A>G	uc003ots.1	-	7	879	c.756T>C	c.(754-756)CAT>CAC	p.H252H	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	252					translation	mitochondrion|ribosome	structural constituent of ribosome				0		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)		CCCGTTTGTTATGATCAACGT	0.567													G	43022174	A	G	43022174	2	3	238	1	0	0	0	0	0	0	0	1	9785	446	16	3		3	MRPL2	6	43022174	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	355950	43022174	128092893	228	120619											
SUPT3H	8464	broad.mit.edu	37	chr6	44922337	44922337	+	Frame_Shift_Del	DEL	T	T	-													cagtctcgaaatttggaagcTtttttggctggccatttaaa							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:44922336_44922336CT>C	uc003oxp.3	-	7	755	c.589_589AG>G	c.(589-591)gctfs	p.A197fs	SUPT3H_uc003oxn.1_Frame_Shift_Del_p.A197fs|SUPT3H_uc003oxo.3_Frame_Shift_Del_p.A208fs|SUPT3H_uc011dvv.2_Frame_Shift_Del_p.A45fs|SUPT3H_uc011dvw.2_Frame_Shift_Del_p.A111fs	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	279					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AATTTGGAAGCTTTTTTGGCT	0.333													-	44922337	T	-	44922337	7	5	238	1	0	1	0	1	0	0	0	0	15394	1606	56	0	381	0	SUPT3H	6	44922337	Frame_Shift_Del	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	1900163	44922337	126192730	229	120620											
RHAG	6005	broad.mit.edu	37	chr6	49578748	49578748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactcacgtgttggaggcGcccattgctactgccacaat	9	12	1	0	rs150024430		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:49578748G>A	uc003ozk.3	-	7	1118	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G	RHAG_uc010jzl.2_Silent_p.G352G|RHAG_uc010jzm.2_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	352	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)					TGTTGGAGGCGCCCATTGCTA	0.488													A	49578748	G	A	49578748	2	1	238	1	0	0	0	0	0	0	0	1	13315	1074	38	1		1	RHAG	6	49578748	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4656411	49578748	121536319	230	120621											
FAM83B	222584	broad.mit.edu	37	chr6	54735391	54735391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgatgcccggactctTagggggcacccatatagatc	11	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:54735391T>C	uc003pck.2	+	2	463	c.347T>C	c.(346-348)TTA>TCA	p.L116S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	116										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CCCGGACTCTTAGGGGGCACC	0.438													C	54735391	T	C	54735391	3	2	238	1	0	0	0	0	1	0	0	0	5634	1764	61	3	349	3	FAM83B	6	54735391	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	5156643	54735391	116379676	231	120622											
DDX43	55510	broad.mit.edu	37	chr6	74124393	74124393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacgtacaccgaatagggCgcacgggaagagcagggtaa	14	8	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:74124393C>T	uc003pgw.2	+	14	2073	c.1729C>T	c.(1729-1731)CGC>TGC	p.R577C		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	577	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						CCGAATAGGGCGCACGGGAAG	0.428													T	74124393	C	T	74124393	3	4	238	1	0	0	0	0	1	0	0	0	4363	768	27	1	1783	1	DDX43	6	74124393	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	19389002	74124393	96990674	232	120623											
COL12A1	1303	broad.mit.edu	37	chr6	75827179	75827179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcgtccacaatgaacaCgtgccgttcacttggtttgc	9	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:75827179C>T	uc003phs.2	-	47	7604	c.7438G>A	c.(7438-7440)GTG>ATG	p.V2480M	COL12A1_uc003pht.2_Missense_Mutation_p.V1316M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2480	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACAATGAACACGTGCCGTTCA	0.418													T	75827179	C	T	75827179	3	4	238	1	0	0	0	0	1	0	0	0	3669	536	19	1	1833	1	COL12A1	6	75827179	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1702786	75827179	95287888	233	120624											
FILIP1	27145	broad.mit.edu	37	chr6	76022525	76022525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtagacaccgtcattatcTgaataggggatgtgggcctg	13	7	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:76022525T>C	uc003pia.2	-	5	3396	c.3023A>G	c.(3022-3024)CAG>CGG	p.Q1008R	FILIP1_uc003phy.1_Missense_Mutation_p.Q1008R|FILIP1_uc003phz.2_Missense_Mutation_p.Q909R|FILIP1_uc010kbe.2_Missense_Mutation_p.Q1011R|FILIP1_uc003pib.1_Missense_Mutation_p.Q760R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1008										skin(3)|ovary(1)	4						CGTCATTATCTGAATAGGGGA	0.507													C	76022525	T	C	76022525	3	2	238	1	0	0	0	0	1	0	0	0	5894	1580	55	3	626	3	FILIP1	6	76022525	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	195346	76022525	95092542	234	120625											
TTK	7272	broad.mit.edu	37	chr6	80723018	80723018	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacctctagatcagaatgcCgagatttggttgtgcctgga	11	8	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:80723018C>T	uc003pjc.2	+	9	993	c.919C>T	c.(919-921)CGA>TGA	p.R307*	TTK_uc003pjb.3_Nonsense_Mutation_p.R307*	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	307					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			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		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)		ATCAGAATGCCGAGATTTGGT	0.269													T	80723018	C	T	80723018	4	4	238	1	0	0	0	0	0	1	0	0	16717	644	23	1	949	1	TTK	6	80723018	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4700493	80723018	90392049	235	120626											
KIAA1009	22832	broad.mit.edu	37	chr6	84865121	84865121	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttatccttttctccataaAttccactgtatttttatcca	1	10	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:84865121A>T	uc010kbp.2	-	22	2987	c.2890T>A	c.(2890-2892)TTT>ATT	p.F964I	KIAA1009_uc003pkj.3_Missense_Mutation_p.F888I|KIAA1009_uc003pki.3_Missense_Mutation_p.F350I	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	964	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		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)		TTCTCCATAAATTCCACTGTA	0.383													T	84865121	A	T	84865121	3	4	238	1	0	0	0	0	1	0	0	0	8203	101	4	5	1345	5	KIAA1009	6	84865121	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	4142103	84865121	86249946	236	120627											
TBX18	9096	broad.mit.edu	37	chr6	85466569	85466569	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacctgccaccatccatttCgaactgtggtaaacatacct	5	13	0	0	rs150088516		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:85466569C>T	uc003pkl.1	-	4	618	c.618G>A	c.(616-618)TCG>TCA	p.S206S	TBX18_uc010kbq.1_Silent_p.S48S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	206	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		CCATCCATTTCGAACTGTGGT	0.488													T	85466569	C	T	85466569	2	4	238	1	0	0	0	0	0	0	0	1	15650	871	31	1		1	TBX18	6	85466569	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	601448	85466569	85648498	237	120628											
C6orf165	154313	broad.mit.edu	37	chr6	88125515	88125515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattggaaagcctctaccGgaagattatcagctatgtgt	10	7	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:88125515G>A	uc003plv.2	+	5	487	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.R132Q	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	132										central_nervous_system(1)	1		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)		AGCCTCTACCGGAAGATTATC	0.438													A	88125515	G	A	88125515	3	1	238	1	0	0	0	0	1	0	0	0	2341	1116	39	1	409	1	C6orf165	6	88125515	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2658946	88125515	82989552	238	120629											
MDN1	23195	broad.mit.edu	37	chr6	90422427	90422427	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagaatctggccacagtcCcatgccaagaatggagtctc	9	13	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:90422427C>A	uc003pnn.1	-	48	7413	c.7297G>T	c.(7297-7299)GGA>TGA	p.G2433*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2433					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.G2433V(1)		ovary(8)|skin(2)	10		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)		GGCCACAGTCCCATGCCAAGA	0.458													A	90422427	C	A	90422427	4	1	238	1	0	0	0	0	0	1	0	0	9415	632	22	5	9713	5	MDN1	6	90422427	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2296912	90422427	80692640	239	120630											
CCNC	892	broad.mit.edu	37	chr6	99993014	99993014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggttttggttttggCatcttactaagaatggttgc	14	4	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:99993014C>T	uc003pqe.2	-	11	1058	c.771G>A	c.(769-771)ATG>ATA	p.M257I	uc003pqc.2_Intron|CCNC_uc003pqd.2_Missense_Mutation_p.M172I|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.M256I|CCNC_uc011eah.1_Missense_Mutation_p.M172I	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	257					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|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;0.064)		TTGGTTTTGGCATCTTACTAA	0.299													T	99993014	C	T	99993014	3	4	238	1	0	0	0	0	1	0	0	0	2915	710	25	2	88	2	CCNC	6	99993014	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	9570587	99993014	71122053	240	120631											
SIM1	6492	broad.mit.edu	37	chr6	100901670	100901670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccagttctcggccaaCgttgtccagggggctggtcc	15	13	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:100901670C>T	uc003pqj.3	-	2	433	c.226G>A	c.(226-228)GTT>ATT	p.V76I	SIM1_uc010kcu.2_Missense_Mutation_p.V76I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	76					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		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)		TCTCGGCCAACGTTGTCCAGG	0.617													T	100901670	C	T	100901670	3	4	238	1	0	0	0	0	1	0	0	0	14323	536	19	1	2114	1	SIM1	6	100901670	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	908656	100901670	70213397	241	120632											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111901440	111901440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggagcagtctctctgtgCgggcctctcttcgtggtccc	12	13	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:111901440C>T	uc011ebc.1	-	4	1597	c.982G>A	c.(982-984)GCA>ACA	p.A328T	TRAF3IP2_uc003pvg.2_Missense_Mutation_p.A328T|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.A328T|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.A328T|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.A328T	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	337					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		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)		TCTCTCTGTGCGGGCCTCTCT	0.567													T	111901440	C	T	111901440	3	4	238	1	0	0	0	0	1	0	0	0	16438	768	27	1	743	1	TRAF3IP2	6	111901440	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	10999770	111901440	59213627	242	120633											
LAMA4	3910	broad.mit.edu	37	chr6	112463468	112463468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacttccacagctgactgGccatcaaacatcatggagac	8	13	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:112463468G>A	uc003pvu.2	-	20	2829	c.2520C>T	c.(2518-2520)GGC>GGT	p.G840G	LAMA4_uc003pvv.2_Silent_p.G833G|LAMA4_uc003pvt.2_Silent_p.G833G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	840	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			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		CAGCTGACTGGCCATCAAACA	0.502													A	112463468	G	A	112463468	2	1	238	1	0	0	0	0	0	0	0	1	8608	1190	42	2		2	LAMA4	6	112463468	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	562028	112463468	58651599	243	120634											
TSPYL1	7259	broad.mit.edu	37	chr6	116600626	116600626	+	Frame_Shift_Del	DEL	T	T	-													tctctccaccctgaacgcccTttttcaggctgcggtcggct							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:116600625_116600625CT>C	uc003pwp.4	-	0	656	c.369_369AG>G	c.(367-369)aagfs	p.K123fs	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	123					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CCTGAACGCCCTTTTTCAGGC	0.657													-	116600626	T	-	116600626	7	5	238	1	0	1	0	1	0	0	0	0	16656	1609	56	0	949	0	TSPYL1	6	116600626	Frame_Shift_Del	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	4137158	116600626	54514441	244	120635											
GJA1	2697	broad.mit.edu	37	chr6	121768438	121768438	+	Frame_Shift_Del	DEL	G	G	-													atggtaaggtgaaaatgcgaGgggggttgctgcgaacctac							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:121768437_121768437AG>A	uc003pyr.3	+	1	694	c.444_444AG>A	c.(442-444)cgafs	p.R148fs	GJA1_uc011ebo.1_Frame_Shift_Del_p.R49fs|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Frame_Shift_Del_p.R148fs	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	148			R -> Q (in dbSNP:rs2228960).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.R148Q(1)|p.R148*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGAAAATGCGAGGGGGGTTGC	0.448													-	121768438	G	-	121768438	7	5	238	1	0	1	0	1	0	0	0	0	6400	1000	35	0	447	0	GJA1	6	121768438	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	5167812	121768438	49346629	245	120636											
HEY2	23493	broad.mit.edu	37	chr6	126080338	126080338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctaacagaagttgcgcGgtacctgagctccgtggaag	14	10	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:126080338G>A	uc003qad.2	+	5	595	c.404G>A	c.(403-405)CGG>CAG	p.R135Q	HEY2_uc011ebr.1_Missense_Mutation_p.R89Q	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	135	Orange.				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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAAGTTGCGCGGTACCTGAGC	0.592													A	126080338	G	A	126080338	3	1	238	1	0	0	0	0	1	0	0	0	7079	1116	39	1	422	1	HEY2	6	126080338	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4311900	126080338	45034729	246	120637											
HEY2	23493	broad.mit.edu	37	chr6	126080601	126080601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtgcctcctgcccacGgctctgctctcctcacggcc	9	19	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:126080601G>A	uc003qad.2	+	5	858	c.667G>A	c.(667-669)GGC>AGC	p.G223S	HEY2_uc011ebr.1_Missense_Mutation_p.G177S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	223					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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCCTGCCCACGGCTCTGCTCT	0.662													A	126080601	G	A	126080601	3	1	238	1	0	0	0	0	1	0	0	0	7079	1116	39	1	685	1	HEY2	6	126080601	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	263	126080601	45034466	247	120638											
AKAP7	9465	broad.mit.edu	37	chr6	131540894	131540894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatagatctttgctccatgCtgaagaaaaaacaaagtaat	7	7	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:131540894C>T	uc003qck.2	+	7	829	c.796C>T	c.(796-798)CTG>TTG	p.L266L	AKAP7_uc011ebz.1_Silent_p.L244L|AKAP7_uc003qcl.1_Silent_p.L147L	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TTGCTCCATGCTGAAGAAAAA	0.264													T	131540894	C	T	131540894	2	4	238	1	0	0	0	0	0	0	0	1	456	796	28	2		2	AKAP7	6	131540894	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5460293	131540894	39574173	248	120639											
MAP7	9053	broad.mit.edu	37	chr6	136698932	136698932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgcttttacttctggCcaggaacgaatgtgtgggcg	14	8	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:136698932C>T	uc003qgz.2	-	7	958	c.712G>A	c.(712-714)GCC>ACC	p.A238T	MAP7_uc011edf.1_Missense_Mutation_p.A223T|MAP7_uc011edg.1_Missense_Mutation_p.A260T|MAP7_uc010kgu.2_Missense_Mutation_p.A260T|MAP7_uc011edh.1_Missense_Mutation_p.A223T|MAP7_uc010kgv.2_Missense_Mutation_p.A260T|MAP7_uc010kgs.2_Missense_Mutation_p.A92T|MAP7_uc011edi.1_Missense_Mutation_p.A92T|MAP7_uc010kgq.1_Missense_Mutation_p.A144T|MAP7_uc003qha.1_Missense_Mutation_p.A201T|MAP7_uc010kgr.2_Missense_Mutation_p.A92T|MAP7_uc010kgt.2_Missense_Mutation_p.A260T	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	238					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTACTTCTGGCCAGGAACGAA	0.527													T	136698932	C	T	136698932	3	4	238	1	0	0	0	0	1	0	0	0	9266	739	26	2	1585	2	MAP7	6	136698932	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5158038	136698932	34416135	249	120640											
FUCA2	2519	broad.mit.edu	37	chr6	143823103	143823103	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtgtcattctgggatcGccaggtatgggtttcataaa	12	7	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:143823103G>A	uc003qjm.2	-	5	1212	c.1120C>T	c.(1120-1122)CGA>TGA	p.R374*	FUCA2_uc003qjn.2_Nonsense_Mutation_p.R128*	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma precursor	374					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTCTGGGATCGCCAGGTATGG	0.403													A	143823103	G	A	143823103	4	1	238	1	0	0	0	0	0	1	0	0	6095	1095	38	1	295	1	FUCA2	6	143823103	Nonsense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	7124171	143823103	27291964	250	120641											
UTRN	7402	broad.mit.edu	37	chr6	144757114	144757114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagagtccccgagctgaaaCtcccagcactgtcactgagg	11	13	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:144757114C>T	uc003qkt.2	+	9	991	c.899C>T	c.(898-900)ACT>ATT	p.T300I	UTRN_uc010khq.1_Missense_Mutation_p.T300I	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	300	Interaction with SYNM.|Spectrin 1.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGAGCTGAAACTCCCAGCACT	0.498													T	144757114	C	T	144757114	3	4	238	1	0	0	0	0	1	0	0	0	17100	565	20	4	933	4	UTRN	6	144757114	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	934011	144757114	26357953	251	120642											
STXBP5	134957	broad.mit.edu	37	chr6	147635458	147635458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttacccagaaataaTtattacagggtaagtaaaag	7	5	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:147635458T>G	uc003qlz.2	+	13	1513	c.1352T>G	c.(1351-1353)ATT>AGT	p.I451S	STXBP5_uc010khz.1_Missense_Mutation_p.I451S|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.I122S	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	451	WD 8.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCAGAAATAATTATTACAGGG	0.358													G	147635458	T	G	147635458	3	3	238	1	0	0	0	0	1	0	0	0	15355	1493	52	5	1402	5	STXBP5	6	147635458	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2878344	147635458	23479609	252	120643											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152245	151152245	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctatgataacatcagttaTgaggacttaaaactaatggt	8	5	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:151152245T>C	uc003qny.1	+	16	2310	c.1998T>C	c.(1996-1998)TAT>TAC	p.Y666Y	PLEKHG1_uc011eel.1_Silent_p.Y706Y|PLEKHG1_uc011eem.1_Silent_p.Y725Y|PLEKHG1_uc003qnz.2_Silent_p.Y666Y	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	666					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACATCAGTTATGAGGACTTAA	0.478													C	151152245	T	C	151152245	2	2	238	1	0	0	0	0	0	0	0	1	12068	1471	51	3		3	PLEKHG1	6	151152245	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3516787	151152245	19962822	253	120644											
C6orf97	80129	broad.mit.edu	37	chr6	151917593	151917593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggttgagagggacaacGcgcatcttaccatcaggaac	13	9	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:151917593G>A	uc003qol.2	+	9	1680	c.1591G>A	c.(1591-1593)GCG>ACG	p.A531T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	531	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GAGGGACAACGCGCATCTTAC	0.552													A	151917593	G	A	151917593	3	1	238	1	0	0	0	0	1	0	0	0	2374	1087	38	1	1625	1	C6orf97	6	151917593	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	765348	151917593	19197474	254	120645											
SYNE1	23345	broad.mit.edu	37	chr6	152443751	152443751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactctgaacaggaagccGcggccggaccgacctggccc	14	15	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:152443751G>A	uc010kiw.2	-	146	26816	c.26214C>T	c.(26212-26214)CGC>CGT	p.R8738R	SYNE1_uc010kiv.2_Silent_p.R3262R|SYNE1_uc003qos.3_Silent_p.R3262R|SYNE1_uc003qot.3_Silent_p.R8690R|SYNE1_uc003qou.3_Silent_p.R8738R|SYNE1_uc003qop.3_Silent_p.R923R|SYNE1_uc011eez.1_3'UTR|SYNE1_uc003qoq.3_3'UTR|SYNE1_uc003qor.3_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8738	Cytoplasmic (Potential).|KASH.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGGAAGCCGCGGCCGGACC	0.557										HNSCC(10;0.0054)			A	152443751	G	A	152443751	2	1	238	1	0	0	0	0	0	0	0	1	15442	1074	38	1		1	SYNE1	6	152443751	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	526158	152443751	18671316	255	120646											
SYNE1	23345	broad.mit.edu	37	chr6	152673328	152673328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgtcatgtgttctttcCggacagtgctggtcagttcc	11	12	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:152673328C>T	uc010kiw.2	-	70	12016	c.11414G>A	c.(11413-11415)CGG>CAG	p.R3805Q	SYNE1_uc003qot.3_Missense_Mutation_p.R3790Q|SYNE1_uc003qou.3_Missense_Mutation_p.R3805Q|SYNE1_uc010kja.1_Missense_Mutation_p.R510Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3805	Cytoplasmic (Potential).|Potential.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTTCTTTCCGGACAGTGCT	0.443										HNSCC(10;0.0054)			T	152673328	C	T	152673328	3	4	238	1	0	0	0	0	1	0	0	0	15442	652	23	1	15360	1	SYNE1	6	152673328	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	229577	152673328	18441739	256	120647											
SNX9	51429	broad.mit.edu	37	chr6	158296187	158296187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctcaggccagttcgtcGgctgccagcaacaatcacca	9	15	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:158296187G>A	uc003qqv.1	+	4	452	c.279G>A	c.(277-279)TCG>TCA	p.S93S		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	93					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				0		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)		CCAGTTCGTCGGCTGCCAGCA	0.488													A	158296187	G	A	158296187	2	1	238	1	0	0	0	0	0	0	0	1	14909	1103	39	1		1	SNX9	6	158296187	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5622859	158296187	12818880	257	120648											
SYNJ2	8871	broad.mit.edu	37	chr6	158516963	158516963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcctgcagagcaacaGccagcttctccagggcctca	11	15	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:158516963G>A	uc003qqx.1	+	27	4133	c.4058G>A	c.(4057-4059)AGC>AAC	p.S1353N	SYNJ2_uc003qqy.1_Missense_Mutation_p.S1066N|SYNJ2_uc003qqz.1_Missense_Mutation_p.S970N|SYNJ2_uc003qra.1_Missense_Mutation_p.S696N|SYNJ2_uc010kjp.1_Missense_Mutation_p.S236N	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1353	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGAGCAACAGCCAGCTTCTC	0.642													A	158516963	G	A	158516963	3	1	238	1	0	0	0	0	1	0	0	0	15450	971	34	2	4164	2	SYNJ2	6	158516963	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	220776	158516963	12598104	258	120649											
TULP4	56995	broad.mit.edu	37	chr6	158873233	158873233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccgtcagcttcacctcGggagacatcagcttaatgaa	8	13	4	2	rs139615407		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:158873233G>A	uc003qrf.2	+	5	2149	c.792G>A	c.(790-792)TCG>TCA	p.S264S	TULP4_uc011efo.1_Silent_p.S264S|TULP4_uc003qrg.2_Silent_p.S264S	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	264					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		GCTTCACCTCGGGAGACATCA	0.537													A	158873233	G	A	158873233	2	1	238	1	0	0	0	0	0	0	0	1	16773	1103	39	1		1	TULP4	6	158873233	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	356270	158873233	12241834	259	120650											
PNLDC1	154197	broad.mit.edu	37	chr6	160225038	160225038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctatctcttccctacaaCgtttgggattttggactcag	7	11	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr6:160225038C>T	uc003qsx.1	+	5	428	c.257C>T	c.(256-258)ACG>ATG	p.T86M	PNLDC1_uc003qsy.1_Missense_Mutation_p.T97M	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	86	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCCCTACAACGTTTGGGATT	0.393													T	160225038	C	T	160225038	3	4	238	1	0	0	0	0	1	0	0	0	12148	536	19	1	271	1	PNLDC1	6	160225038	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1351805	160225038	10890029	260	120651											
IQCE	23288	broad.mit.edu	37	chr7	2611882	2611882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcatgcgtggactggcGtccccggcggcactcctgac	16	14	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:2611882G>A	uc003smo.3	+	5	500	c.316G>A	c.(316-318)GTC>ATC	p.V106I	IQCE_uc010ksm.1_Missense_Mutation_p.V106I|IQCE_uc003sml.1_Missense_Mutation_p.V106I|IQCE_uc011jvy.1_Missense_Mutation_p.V90I|IQCE_uc011jvz.1_Missense_Mutation_p.V41I|IQCE_uc003smk.3_Missense_Mutation_p.V90I|IQCE_uc003smn.3_Missense_Mutation_p.V41I	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	106											0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GTGGACTGGCGTCCCCGGCGG	0.577													A	2611882	G	A	2611882	3	1	238	1	0	0	0	0	1	0	0	0	7806	1145	40	1	334	1	IQCE	7	2611882	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		2611882	156526781	261	120652											
C7orf31	136895	broad.mit.edu	37	chr7	25182374	25182374	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaaagaagtgttaggagcGaaggttttaggaggttttgg	15	1	0	1	rs139391560		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:25182374G>A	uc003sxn.1	-	8	1305	c.744C>T	c.(742-744)TTC>TTT	p.F248F	C7orf31_uc003sxm.1_Silent_p.F90F	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	248											0						TGTTAGGAGCGAAGGTTTTAG	0.393													A	25182374	G	A	25182374	2	1	238	1	0	0	0	0	0	0	0	1	2387	1049	37	1		1	C7orf31	7	25182374	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	22570492	25182374	133956289	262	120653											
HOXA7	3204	broad.mit.edu	37	chr7	27195899	27195900	+	Frame_Shift_Del	DEL	AT	AT	-													ggtcactgcagagcccggggAtgttttggtcgtaggaggcg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:27195898_27195899GAT>G	uc003sys.3	-	0	398_399	c.266_267ATC>C	c.(265-267)atcfs	p.I89fs		NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	89					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						AGAGCCCGGGGATGTTTTGGTC	0.653													-	27195900	AT	-	27195899	7	5	238	1	0	1	0	1	0	0	0	0	7297	333	12	0	434	0	HOXA7	7	27195899	Frame_Shift_Del	DEL	AT	TCGA-F1-A448-01A-11D-A24D-08	2013525	27195899	131942764	263	120654											
ELMO1	9844	broad.mit.edu	37	chr7	37382358	37382358	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcgtaaacggccacacGtgtctatacctaatgaggaa	9	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:37382358G>A	uc003tfk.1	-	2	244	c.-63C>T	c.(-65--61)CACGT>CATGT		ELMO1_uc010kxg.1_Translation_Start_Site	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1						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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						ACGGCCACACGTGTCTATACC	0.483													A	37382358	G	A	37382358	1	1	238	1	0	0	0	0	0	0	0	0	5065	1160	40	1		1	ELMO1	7	37382358	Translation_Start_Site	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	10186459	37382358	121756305	264	120655											
GPR141	353345	broad.mit.edu	37	chr7	37780555	37780555	+	Frame_Shift_Del	DEL	T	T	-													catcaactatatgatagtcaTttttgtcatagccgttgctg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:37780554_37780554AT>A	uc003tfm.1	+	0	559	c.559_559AT>A	c.(559-561)attfs	p.I187fs	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	187						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGATAGTCATTTTTGTCAT	0.403													-	37780555	T	-	37780555	7	5	238	1	0	1	0	1	0	0	0	0	6649	1493	52	0	562	0	GPR141	7	37780555	Frame_Shift_Del	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	398197	37780555	121358108	265	120656											
POU6F2	11281	broad.mit.edu	37	chr7	39504052	39504052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcggcgcacctccttcAcaccccaggcccttgagatc	9	18	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:39504052A>G	uc003thb.1	+	10	1885	c.1843A>G	c.(1843-1845)ACA>GCA	p.T615A		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	615	Homeobox (By similarity).				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			central_nervous_system(1)	1						CACCTCCTTCACACCCCAGGC	0.552													G	39504052	A	G	39504052	3	3	238	1	0	0	0	0	1	0	0	0	12285	159	6	3	1881	3	POU6F2	7	39504052	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1723497	39504052	119634611	266	120657											
IKZF1	10320	broad.mit.edu	37	chr7	50468286	50468286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggtacgagttctcgtcGcacataacgcgaggggagca	14	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:50468286G>A	uc003tow.3	+	9	1689	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S	IKZF1_uc003tox.3_Silent_p.S465S|IKZF1_uc003toy.3_Silent_p.S465S|IKZF1_uc011kck.1_Silent_p.S420S|IKZF1_uc003toz.3_Silent_p.S477S|IKZF1_uc010kyx.2_Silent_p.S247S|IKZF1_uc003tpa.3_Silent_p.S249S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	507	C2H2-type 6.				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.S507*(1)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGTTCTCGTCGCACATAACGC	0.617			D		ALL								A	50468286	G	A	50468286	2	1	238	1	0	0	0	0	0	0	0	1	7614	1074	38	1		1	IKZF1	7	50468286	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	10964234	50468286	108670377	267	120658											
POR	5447	broad.mit.edu	37	chr7	75614213	75614213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgagctggcgcagtaCgcctcggagccctcggagca	14	14	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:75614213C>T	uc003udy.2	+	11	1267	c.1185C>T	c.(1183-1185)TAC>TAT	p.Y395Y	POR_uc011kgc.1_Silent_p.Y203Y|POR_uc011kgd.1_Silent_p.Y294Y|POR_uc011kge.1_Silent_p.Y133Y|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	392	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TGGCGCAGTACGCCTCGGAGC	0.687													T	75614213	C	T	75614213	2	4	238	1	0	0	0	0	0	0	0	1	12257	547	19	1		1	POR	7	75614213	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	25145927	75614213	83524450	268	120659											
PCLO	27445	broad.mit.edu	37	chr7	82586142	82586142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaataagacttggaattTcaccaagtgagcttgatatt	9	5	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:82586142T>C	uc003uhx.2	-	5	4416	c.4127A>G	c.(4126-4128)GAA>GGA	p.E1376G	PCLO_uc003uhv.2_Missense_Mutation_p.E1376G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1307					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTTGGAATTTCACCAAGTGA	0.448													C	82586142	T	C	82586142	3	2	238	1	0	0	0	0	1	0	0	0	11583	1783	62	3	11402	3	PCLO	7	82586142	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	6971929	82586142	76552521	269	120660											
ABCB1	5243	broad.mit.edu	37	chr7	87160719	87160719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaattgctaagagtaacAgtgttagttgccaaccatag	9	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:87160719A>C	uc003uiz.1	-	22	2994	c.2576T>G	c.(2575-2577)CTG>CGG	p.L859R	ABCB1_uc011khc.1_Missense_Mutation_p.L795R	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	859	ABC transmembrane type-1 2.|Helical; (Potential).				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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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)	TAAGAGTAACAGTGTTAGTTG	0.383													C	87160719	A	C	87160719	3	2	238	1	0	0	0	0	1	0	0	0	40	188	7	5	1298	5	ABCB1	7	87160719	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	4574577	87160719	71977944	270	120661											
ZNF804B	219578	broad.mit.edu	37	chr7	88964976	88964976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatgaagtgtaactccGggaatatcagctgccttcta	10	11	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:88964976G>A	uc011khi.1	+	4	3218	c.2680G>A	c.(2680-2682)GGG>AGG	p.G894R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	894						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGTAACTCCGGGAATATCAG	0.438										HNSCC(36;0.09)			A	88964976	G	A	88964976	3	1	238	1	0	0	0	0	1	0	0	0	18168	1116	39	1	2694	1	ZNF804B	7	88964976	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1804257	88964976	70173687	271	120662											
TMEM130	222865	broad.mit.edu	37	chr7	98460917	98460917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtagaggtgggcgtcagcGggcagggccaggctgccgtt	20	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:98460917G>A	uc003upo.2	-	2	381	c.192C>T	c.(190-192)CCC>CCT	p.P64P	TMEM130_uc011kiq.1_Silent_p.P45P|TMEM130_uc011kir.1_Silent_p.P64P|TMEM130_uc003upn.2_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	64	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	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)			GGGCGTCAGCGGGCAGGGCCA	0.642													A	98460917	G	A	98460917	2	1	238	1	0	0	0	0	0	0	0	1	16040	1103	39	1		1	TMEM130	7	98460917	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	9495941	98460917	60677746	272	120663											
LRCH4	4034	broad.mit.edu	37	chr7	100179467	100179467	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaagagaggccacacagTtccgagggcagggattggag	18	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:100179467T>C	uc003uvj.2	-	4	584	c.531A>G	c.(529-531)GAA>GAG	p.E177E	LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	177	LRR 6.				nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCACACAGTTCCGAGGGCA	0.602													C	100179467	T	C	100179467	2	2	238	1	0	0	0	0	0	0	0	1	8935	1722	60	3		3	LRCH4	7	100179467	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1718550	100179467	58959196	273	120664											
MUC17	140453	broad.mit.edu	37	chr7	100678207	100678207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgcctgtcagcaccacGctggtggtcagttctgaggc	13	11	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:100678207G>A	uc003uxp.1	+	3	3563	c.3510G>A	c.(3508-3510)ACG>ACA	p.T1170T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1170	Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCTGGTGGTCA	0.522													A	100678207	G	A	100678207	2	1	238	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100678207	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	498740	100678207	58460456	274	120665											
CUX1	1523	broad.mit.edu	37	chr7	101559408	101559408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacagagagaactcgatgCcaccgcaacggtattggcga	11	12	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:101559408C>T	uc003uyx.3	+	2	82	c.44C>T	c.(43-45)GCC>GTC	p.A15V	CUX1_uc003uys.3_Missense_Mutation_p.A26V|CUX1_uc003uyt.2_Missense_Mutation_p.A26V|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Missense_Mutation_p.A26V|CUX1_uc003uyv.2_Missense_Mutation_p.A26V|CUX1_uc003uyu.2_Missense_Mutation_p.A26V	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	15	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GAACTCGATGCCACCGCAACG	0.498													T	101559408	C	T	101559408	3	4	238	1	0	0	0	0	1	0	0	0	4064	739	26	2	117	2	CUX1	7	101559408	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	881201	101559408	57579255	275	120666											
DOCK4	9732	broad.mit.edu	37	chr7	111386404	111386404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctgctcaagcatcaGctctcttaatcgtgcaattt	5	13	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:111386404G>A	uc003vfx.2	-	43	4905	c.4636C>T	c.(4636-4638)CTG>TTG	p.L1546L	DOCK4_uc011kml.1_Silent_p.L427L|DOCK4_uc011kmm.1_Silent_p.L453L|DOCK4_uc003vfw.2_Silent_p.L996L|DOCK4_uc003vfy.2_Silent_p.L1591L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1546	DHR-2.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCAAGCATCAGCTCTCTTAAT	0.448													A	111386404	G	A	111386404	2	1	238	1	0	0	0	0	0	0	0	1	4689	962	34	2		2	DOCK4	7	111386404	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	9826996	111386404	47752259	276	120667											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518466	113518466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagaatgcacaatggcatccGagtctgttttctttgataat	8	8	2	2	rs140543337		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:113518466G>A	uc010ljy.1	-	4	2712	c.2681C>T	c.(2680-2682)TCG>TTG	p.S894L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	894					glycogen metabolic process	integral to membrane		p.S894W(1)		lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AATGGCATCCGAGTCTGTTTT	0.368													A	113518466	G	A	113518466	3	1	238	1	0	0	0	0	1	0	0	0	12371	1059	37	1	691	1	PPP1R3A	7	113518466	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2132062	113518466	45620197	277	120668											
RNF133	168433	broad.mit.edu	37	chr7	122338188	122338188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtcattaggcttatagCgttcaaagcaaattacgcag	8	8	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:122338188C>T	uc003vkj.1	-	1	1021	c.785G>A	c.(784-786)CGC>CAC	p.R262H	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	262	RING-type; atypical.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						AGGCTTATAGCGTTCAAAGCA	0.403													T	122338188	C	T	122338188	3	4	238	1	0	0	0	0	1	0	0	0	13439	768	27	1	349	1	RNF133	7	122338188	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	8819722	122338188	36800475	278	120669											
SLC13A1	6561	broad.mit.edu	37	chr7	122763254	122763254	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcatgaatgactggaattCtttccaagtaatcagtggag	12	6	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:122763254C>T	uc003vkm.2	-	12	1301	c.1276G>A	c.(1276-1278)GAA>AAA	p.E426K	SLC13A1_uc010lks.2_Missense_Mutation_p.E302K	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	426						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	GACTGGAATTCTTTCCAAGTA	0.383													T	122763254	C	T	122763254	3	4	238	1	0	0	0	0	1	0	0	0	14391	922	32	4	527	4	SLC13A1	7	122763254	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	425066	122763254	36375409	279	120670											
SND1	27044	broad.mit.edu	37	chr7	127721553	127721553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgcaggatgtggagaccGgtgagtgctcaggccgctgg	18	9	1	2	rs148285818		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:127721553G>A	uc003vmi.2	+	18	2336	c.2110G>A	c.(2110-2112)GGC>AGC	p.G704S	SND1_uc010lle.2_Missense_Mutation_p.G357S|MIR593_hsa-mir-593|MI0003605_5'Flank	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	704					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			ovary(2)|central_nervous_system(1)	3						TGTGGAGACCGGTGAGTGCTC	0.617													A	127721553	G	A	127721553	3	1	238	1	0	0	0	0	1	0	0	0	14844	1130	39	1	2180	1	SND1	7	127721553	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4958299	127721553	31417110	280	120671											
NUP205	23165	broad.mit.edu	37	chr7	135263559	135263559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcaacaattcactctcGtcttcaggactcacagcttt	5	13	5	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:135263559G>A	uc003vsw.2	+	7	969	c.938G>A	c.(937-939)CGT>CAT	p.R313H	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	313					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						ATTCACTCTCGTCTTCAGGAC	0.458													A	135263559	G	A	135263559	3	1	238	1	0	0	0	0	1	0	0	0	10759	1145	40	1	964	1	NUP205	7	135263559	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	7542006	135263559	23875104	281	120672											
CHRM2	1129	broad.mit.edu	37	chr7	136699719	136699719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggatccctcagtttggTgaccattatcgggaacatcc	11	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:136699719T>C	uc003vtf.1	+	4	730	c.107T>C	c.(106-108)GTG>GCG	p.V36A	CHRM2_uc003vtg.1_Missense_Mutation_p.V36A|CHRM2_uc003vtj.1_Missense_Mutation_p.V36A|CHRM2_uc003vtk.1_Missense_Mutation_p.V36A|CHRM2_uc003vtl.1_Missense_Mutation_p.V36A|CHRM2_uc003vtm.1_Missense_Mutation_p.V36A|CHRM2_uc003vti.1_Missense_Mutation_p.V36A|CHRM2_uc003vto.1_Missense_Mutation_p.V36A|CHRM2_uc003vtn.1_Missense_Mutation_p.V36A|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	36	Helical; Name=1; (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	CTCAGTTTGGTGACCATTATC	0.443													C	136699719	T	C	136699719	3	2	238	1	0	0	0	0	1	0	0	0	3377	1696	59	3	109	3	CHRM2	7	136699719	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1436160	136699719	22438944	282	120673											
BRAF	673	broad.mit.edu	37	chr7	140454026	140454026	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgattgacttggcgtGtaagtaactgaaaaacaaaa	11	4	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:140454026G>C	uc003vwc.3	-	14	1763	c.1702C>G	c.(1702-1704)CAC>GAC	p.H568D		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	568	Protein kinase.				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		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACTTGGCGTGTAAGTAACTG	0.383		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				C	140454026	G	C	140454026	3	2	238	1	0	0	0	0	1	0	0	0	1496	1377	48	5	618	5	BRAF	7	140454026	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3754307	140454026	18684637	283	120674											
OR2A25	392138	broad.mit.edu	37	chr7	143771747	143771747	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgcatcactttggcattGacttcctggattttaggagt	10	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:143771747G>A	uc011ktx.1	+	1	435	c.435G>A	c.(433-435)TTG>TTA	p.L145L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					CTTTGGCATTGACTTCCTGGA	0.478													A	143771747	G	A	143771747	2	1	238	1	0	0	0	0	0	0	0	1	10978	1281	45	4		4	OR2A25	7	143771747	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3317721	143771747	15366916	284	120675											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092865	147092865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattgacatgtgtgcgatcAtagacaggtaaatgatcttt	10	6	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:147092865A>G	uc003weu.1	+	10	2179	c.1663A>G	c.(1663-1665)ATA>GTA	p.I555V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	555	EGF-like 1.|Extracellular (Potential).				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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			GTGTGCGATCATAGACAGGTA	0.418										HNSCC(39;0.1)			G	147092865	A	G	147092865	3	3	238	1	0	0	0	0	1	0	0	0	3647	217	8	3	1701	3	CNTNAP2	7	147092865	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	3321118	147092865	12045798	285	120676											
ZNF467	168544	broad.mit.edu	37	chr7	149462850	149462850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcgcttgccgcactcCgcgcacgggtagggccgctc	14	16	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:149462850C>T	uc003wgd.2	-	5	882	c.741G>A	c.(739-741)GCG>GCA	p.A247A	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	247	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGCACTCCGCGCACGGGT	0.677													T	149462850	C	T	149462850	2	4	238	1	0	0	0	0	0	0	0	1	17924	639	23	1		1	ZNF467	7	149462850	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2369985	149462850	9675813	286	120677											
ZNF862	643641	broad.mit.edu	37	chr7	149557637	149557637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaggacatacaggccccGttccattcagaggtcatggt	11	11	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:149557637G>A	uc010lpn.2	+	7	1580	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	463	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TACAGGCCCCGTTCCATTCAG	0.527													A	149557637	G	A	149557637	3	1	238	1	0	0	0	0	1	0	0	0	18192	1145	40	1	1414	1	ZNF862	7	149557637	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	94787	149557637	9581026	287	120678											
EN2	2020	broad.mit.edu	37	chr7	155251746	155251746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacgcgctactcggaccGgccttcttcaggtgagcccg	12	15	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:155251746G>A	uc003wmb.2	+	1	923	c.674G>A	c.(673-675)CGG>CAG	p.R225Q		NM_001427	NP_001418	P19622	HME2_HUMAN	engrailed homeobox 2	225						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	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)		TACTCGGACCGGCCTTCTTCA	0.741													A	155251746	G	A	155251746	3	1	238	1	0	0	0	0	1	0	0	0	5110	1116	39	1	676	1	EN2	7	155251746	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5694109	155251746	3886917	288	120679											
RBM33	155435	broad.mit.edu	37	chr7	155473489	155473489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggacagtatgaaggccacGaagctgagttgacagaagac	13	7	0	5			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr7:155473489G>A	uc010lqk.1	+	5	822	c.454G>A	c.(454-456)GAA>AAA	p.E152K	RBM33_uc003wme.2_Missense_Mutation_p.E152K	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	152	Glu-rich.						nucleotide binding|RNA binding			ovary(1)	1	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)		TGAAGGCCACGAAGCTGAGTT	0.418													A	155473489	G	A	155473489	3	1	238	1	0	0	0	0	1	0	0	0	13130	1059	37	1	472	1	RBM33	7	155473489	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	221743	155473489	3665174	289	120680											
DLGAP2	9228	broad.mit.edu	37	chr8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttaaacgttctaacagcGtcacggccgccgtccaagct	9	13	2	0	rs34274599		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:1626408G>A	uc003wpl.2	+	9	2174	c.2077G>A	c.(2077-2079)GTC>ATC	p.V693I	DLGAP2_uc003wpm.2_Missense_Mutation_p.V679I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	772					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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													A	1626408	G	A	1626408	3	1	238	1	0	0	0	0	1	0	0	0	4560	1145	40	1	2107	1	DLGAP2	8	1626408	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		1626408	144737614	290	120681											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871717	1871717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgaaatcagagctgcGgactgctgcagaattcagtt	12	7	2	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:1871717G>A	uc003wpr.2	+	20	2521	c.2343G>A	c.(2341-2343)GCG>GCA	p.A781A	ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.2_Silent_p.A743A|ARHGEF10_uc003wpv.2_Silent_p.A514A|ARHGEF10_uc010lre.2_Silent_p.A461A	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	806					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			large_intestine(1)	1		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)		TCAGAGCTGCGGACTGCTGCA	0.418													A	1871717	G	A	1871717	2	1	238	1	0	0	0	0	0	0	0	1	894	1103	39	1		1	ARHGEF10	8	1871717	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	245309	1871717	144492305	291	120682											
CSMD1	64478	broad.mit.edu	37	chr8	3263606	3263606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcttgcagtatgcaggTaatggactcggatccctggg	13	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:3263606T>C	uc011kwk.1	-	15	2602	c.2212A>G	c.(2212-2214)ACC>GCC	p.T738A	CSMD1_uc011kwj.1_Missense_Mutation_p.T130A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	738	Sushi 4.|Extracellular (Potential).					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)		AGTATGCAGGTAATGGACTCG	0.547													C	3263606	T	C	3263606	3	2	238	1	0	0	0	0	1	0	0	0	3944	1638	57	3	8709	3	CSMD1	8	3263606	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1391889	3263606	143100416	292	120683											
TUSC3	7991	broad.mit.edu	37	chr8	15480704	15480704	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggcaccacctcgaaactattCcatgattgttatgttcactg	7	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:15480704C>G	uc003wwt.2	+	2	464	c.254C>G	c.(253-255)TCC>TGC	p.S85C	TUSC3_uc003wwr.2_Missense_Mutation_p.S85C|TUSC3_uc003wws.2_Missense_Mutation_p.S85C|TUSC3_uc003wwu.2_Missense_Mutation_p.S85C|TUSC3_uc003wwv.2_Missense_Mutation_p.S85C|TUSC3_uc003www.2_Missense_Mutation_p.S85C|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.S85C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	85					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		CGAAACTATTCCATGATTGTT	0.358													G	15480704	C	G	15480704	3	3	238	1	0	0	0	0	1	0	0	0	16775	855	30	5	260	5	TUSC3	8	15480704	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	12217098	15480704	130883318	293	120684											
PSD3	23362	broad.mit.edu	37	chr8	18729842	18729842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgactctctgtgttttacGactggcagtgtccagctctt	10	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:18729842G>A	uc003wza.2	-	3	635	c.532C>T	c.(532-534)CGT>TGT	p.R178C		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	178					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGTGTTTTACGACTGGCAGTG	0.413													A	18729842	G	A	18729842	3	1	238	1	0	0	0	0	1	0	0	0	12648	1058	37	1	2703	1	PSD3	8	18729842	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3249138	18729842	127634180	294	120685											
KIAA1967	57805	broad.mit.edu	37	chr8	22476454	22476454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattaacgtggggagcctgcTgcagcgcgcggagcagcagg	18	10	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:22476454T>C	uc003xch.2	+	19	2584	c.2447T>C	c.(2446-2448)CTG>CCG	p.L816P	KIAA1967_uc003xci.2_Missense_Mutation_p.L816P|KIAA1967_uc003xcj.1_Missense_Mutation_p.L485P	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	816					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGAGCCTGCTGCAGCGCGCG	0.632													C	22476454	T	C	22476454	3	2	238	1	0	0	0	0	1	0	0	0	8265	1580	55	3	2517	3	KIAA1967	8	22476454	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3746612	22476454	123887568	295	120686											
ADAM28	10863	broad.mit.edu	37	chr8	24188772	24188772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccattgcctacagatatcAtatccactccaatttgtggg	6	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:24188772A>G	uc003xdy.2	+	12	1296	c.1213A>G	c.(1213-1215)ATA>GTA	p.I405V	ADAM28_uc003xdx.2_Missense_Mutation_p.I405V|ADAM28_uc011kzz.1_Missense_Mutation_p.I172V|ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.I92V	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	405	Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TACAGATATCATATCCACTCC	0.423													G	24188772	A	G	24188772	3	3	238	1	0	0	0	0	1	0	0	0	246	217	8	3	1259	3	ADAM28	8	24188772	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1712318	24188772	122175250	296	120687											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24249886	24249886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccagacagaaaagcatgGcaaagaggtaagcaaggtga	12	7	0	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:24249886G>A	uc003xdz.2	+	2	420	c.200G>A	c.(199-201)GGC>GAC	p.G67D	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_Intron	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	67					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)	2		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAAAGCATGGCAAAGAGGTA	0.363													A	24249886	G	A	24249886	3	1	238	1	0	0	0	0	1	0	0	0	254	1203	42	2	206	2	ADAMDEC1	8	24249886	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	61114	24249886	122114136	297	120688											
EPHX2	2053	broad.mit.edu	37	chr8	27373847	27373847	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctagatccctgctcTggcccaggcaggttaccggg	12	12	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:27373847T>A	uc003xfu.2	+	8	923	c.842T>A	c.(841-843)CTG>CAG	p.L281Q	EPHX2_uc010lut.1_Missense_Mutation_p.L281Q|EPHX2_uc010luu.2_Missense_Mutation_p.L249Q|EPHX2_uc010luv.2_Missense_Mutation_p.L215Q|EPHX2_uc003xfv.2_Missense_Mutation_p.L228Q|EPHX2_uc010luw.2_Missense_Mutation_p.L215Q|EPHX2_uc011lam.1_Missense_Mutation_p.L137Q	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	281	Epoxide hydrolase.				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			ovary(1)	1		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)	ATCCCTGCTCTGGCCCAGGCA	0.547											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27373847	T	A	27373847	3	1	238	1	0	0	0	0	1	0	0	0	5180	1580	55	5	872	5	EPHX2	8	27373847	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3123961	27373847	118990175	298	120689											
ELP3	55140	broad.mit.edu	37	chr8	27995410	27995410	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtaccgagtacagaggTagtgtgttatcttttattcc	11	6	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:27995410T>C	uc003xgo.3	+	10	1248	c.1100_splice	c.e10+2	p.R367_splice	ELP3_uc003xgn.3_Splice_Site_p.R352_splice|ELP3_uc011laq.1_Splice_Site_p.R295_splice|ELP3_uc011lar.1_Splice_Site_p.R275_splice|ELP3_uc011las.1_Splice_Site_p.R248_splice|ELP3_uc011lat.1_Splice_Site_p.R248_splice	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog						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				0		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)		AGTACAGAGGTAGTGTGTTAT	0.408													C	27995410	T	C	27995410	5	2	238	1	0	0	0	0	0	0	1	0	5081	1652	57	3	1140	3	ELP3	8	27995410	Splice_Site	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	621563	27995410	118368612	299	120690											
WRN	7486	broad.mit.edu	37	chr8	30924662	30924662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtaaatttcctctcacTgaggaccagaaactgtatgc	9	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:30924662T>C	uc003xio.3	+	6	1406	c.618T>C	c.(616-618)ACT>ACC	p.T206T		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	206	Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCCTCTCACTGAGGACCAGA	0.378			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				C	30924662	T	C	30924662	2	2	238	1	0	0	0	0	0	0	0	1	17399	1567	55	3		3	WRN	8	30924662	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2929252	30924662	115439360	300	120691											
KCNU1	157855	broad.mit.edu	37	chr8	36664916	36664916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggttcctaagagccttgCgcctgctagaactccctcaa	8	13	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:36664916C>T	uc010lvw.2	+	6	691	c.604C>T	c.(604-606)CGC>TGC	p.R202C	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	202	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAGAGCCTTGCGCCTGCTAGA	0.448													T	36664916	C	T	36664916	3	4	238	1	0	0	0	0	1	0	0	0	8093	768	27	1	626	1	KCNU1	8	36664916	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5740254	36664916	109699106	301	120692											
GPR124	25960	broad.mit.edu	37	chr8	37696570	37696570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctctgcctcttcGccaccatcatcacctacatc	5	18	4	0	rs139221615	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:37696570G>A	uc003xkj.2	+	15	2719	c.2356G>A	c.(2356-2358)GCC>ACC	p.A786T	GPR124_uc010lvy.2_Missense_Mutation_p.A569T	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	786	Helical; Name=1; (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGCCTCTTCGCCACCATCAT	0.677													A	37696570	G	A	37696570	3	1	238	1	0	0	0	0	1	0	0	0	6638	1087	38	1	2393	1	GPR124	8	37696570	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1031654	37696570	108667452	302	120693											
ANK1	286	broad.mit.edu	37	chr8	41550383	41550383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcagtccgaggacagtccGacagccaaaacctaaaaagt	9	12	0	0	rs34727075	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:41550383G>A	uc003xok.2	-	31	3725	c.3641C>T	c.(3640-3642)TCG>TTG	p.S1214L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S530L|ANK1_uc003xoi.2_Missense_Mutation_p.S1214L|ANK1_uc003xoj.2_Missense_Mutation_p.S1214L|ANK1_uc003xol.2_Missense_Mutation_p.S1214L|ANK1_uc003xom.2_Missense_Mutation_p.S1255L	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1214					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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			AGGACAGTCCGACAGCCAAAA	0.532													A	41550383	G	A	41550383	3	1	238	1	0	0	0	0	1	0	0	0	620	1059	37	1	2378	1	ANK1	8	41550383	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3853813	41550383	104813639	303	120694											
PLAT	5327	broad.mit.edu	37	chr8	42039487	42039487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacagtactcccacgtcAgcctgcggttcttcagcacg	8	16	4	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:42039487A>G	uc003xos.2	-	9	1066	c.857T>C	c.(856-858)CTG>CCG	p.L286P	PLAT_uc010lxf.1_Missense_Mutation_p.L203P|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.L240P|PLAT_uc011lcm.1_Missense_Mutation_p.L197P|PLAT_uc011lcn.1_Missense_Mutation_p.L160P	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	286	Kringle 2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCCCACGTCAGCCTGCGGTT	0.532													G	42039487	A	G	42039487	3	3	238	1	0	0	0	0	1	0	0	0	12021	188	7	3	855	3	PLAT	8	42039487	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	489104	42039487	104324535	304	120695											
HOOK3	84376	broad.mit.edu	37	chr8	42828542	42828542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttcaaaaagaaaaggaCgtgagtatatatattaggca	9	4	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:42828542C>T	uc003xpr.2	+	12	1475	c.1233C>T	c.(1231-1233)GAC>GAT	p.D411D	HOOK3_uc010lxq.1_Silent_p.D411D	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	411	Potential.				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			ovary(1)|breast(1)	2	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)			AAGAAAAGGACGTGAGTATAT	0.299			T	RET	papillary thyroid								T	42828542	C	T	42828542	2	4	238	1	0	0	0	0	0	0	0	1	7284	550	19	1		1	HOOK3	8	42828542	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	789055	42828542	103535480	305	120696											
KIAA0146	23514	broad.mit.edu	37	chr8	48625311	48625311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggaggagagagaccccAggctccccaaaaccctgctg	12	14	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:48625311A>G	uc003xqd.2	+	15	2074	c.2065A>G	c.(2065-2067)AGG>GGG	p.R689G	KIAA0146_uc011ldb.1_Missense_Mutation_p.R689G|KIAA0146_uc010lxs.2_Missense_Mutation_p.R164G|KIAA0146_uc011ldc.1_Missense_Mutation_p.R619G|KIAA0146_uc011ldd.1_Missense_Mutation_p.R629G|KIAA0146_uc003xqe.2_Missense_Mutation_p.R164G|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.R378G|KIAA0146_uc010lxt.2_Missense_Mutation_p.R378G|KIAA0146_uc011ldf.1_Missense_Mutation_p.R194G|KIAA0146_uc011ldg.1_Missense_Mutation_p.R179G|KIAA0146_uc003xqg.1_5'Flank	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	689											0		Lung NSC(58;0.175)				GAGAGACCCCAGGCTCCCCAA	0.572													G	48625311	A	G	48625311	3	3	238	1	0	0	0	0	1	0	0	0	8157	179	7	3	2123	3	KIAA0146	8	48625311	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	5796769	48625311	97738711	306	120697											
EFCAB1	79645	broad.mit.edu	37	chr8	49647703	49647703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttctgcagtttcttgCggttcatgtctggcgctcag	11	11	6	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:49647703C>T	uc003xqo.2	-	1	168	c.8G>A	c.(7-9)CGC>CAC	p.R3H	EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Missense_Mutation_p.R3H|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	3							calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGTTTCTTGCGGTTCATGTC	0.622													T	49647703	C	T	49647703	3	4	238	1	0	0	0	0	1	0	0	0	4933	768	27	1	651	1	EFCAB1	8	49647703	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1022392	49647703	96716319	307	120698											
CHD7	55636	broad.mit.edu	37	chr8	61655342	61655342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcggacagaggaatatgGgccccagaaacatgcagcag	13	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:61655342G>A	uc003xue.2	+	2	1828	c.1351G>A	c.(1351-1353)GGC>AGC	p.G451S		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	451	Pro-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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GAGGAATATGGGCCCCAGAAA	0.537													A	61655342	G	A	61655342	3	1	238	1	0	0	0	0	1	0	0	0	3330	1232	43	4	1353	4	CHD7	8	61655342	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	12007639	61655342	84708680	308	120699											
ADHFE1	137872	broad.mit.edu	37	chr8	67352398	67352398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttttattttccctaggTgccagtgcccaactcattct	6	12	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:67352398T>C	uc003xwb.3	+	2	95	c.61T>C	c.(61-63)TGC>CGC	p.C21R	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_5'UTR|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Intron|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	21					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		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)			TTTCCCTAGGTGCCAGTGCCC	0.353													C	67352398	T	C	67352398	3	2	238	1	0	0	0	0	1	0	0	0	314	1710	59	3	67	3	ADHFE1	8	67352398	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	5697056	67352398	79011624	309	120700											
ARFGEF1	10565	broad.mit.edu	37	chr8	68204129	68204129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgttcattttctgcaCtggaaatatcagatccattt	6	9	4	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:68204129C>G	uc003xxo.1	-	6	1259	c.869G>C	c.(868-870)AGT>ACT	p.S290T		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	290					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			ATTTTCTGCACTGGAAATATC	0.428													G	68204129	C	G	68204129	3	3	238	1	0	0	0	0	1	0	0	0	852	565	20	5	4816	5	ARFGEF1	8	68204129	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	851731	68204129	78159893	310	120701											
XKR9	389668	broad.mit.edu	37	chr8	71646526	71646526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactatagttcttactcttcTtcttggaattctttttctta	3	8	6	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:71646526T>C	uc003xyq.2	+	5	1523	c.989T>C	c.(988-990)CTT>CCT	p.L330P	XKR9_uc010lze.2_Missense_Mutation_p.L330P|XKR9_uc010lzd.2_Missense_Mutation_p.L198P	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	330	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2	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)			CTTACTCTTCTTCTTGGAATT	0.343													C	71646526	T	C	71646526	3	2	238	1	0	0	0	0	1	0	0	0	17435	1609	56	3	999	3	XKR9	8	71646526	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3442397	71646526	74717496	311	120702											
TERF1	7013	broad.mit.edu	37	chr8	73958323	73958323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgttaaaagacagatGgaggaccatgaagaaactaa	10	5	1	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:73958323G>T	uc003xzd.2	+	10	1296	c.1271G>T	c.(1270-1272)TGG>TTG	p.W424L	TERF1_uc003xze.2_Missense_Mutation_p.W404L	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	424	H-T-H motif.|HTH myb-type.				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 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			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			AAAGACAGATGGAGGACCATG	0.383													T	73958323	G	T	73958323	3	4	238	1	0	0	0	0	1	0	0	0	15758	1357	47	5	1309	5	TERF1	8	73958323	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2311797	73958323	72405699	312	120703											
RDH10	157506	broad.mit.edu	37	chr8	74209656	74209656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtcaattgccatgcaCacttctgggtaaatataaac	8	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:74209656C>T	uc003xzi.2	+	2	777	c.517C>T	c.(517-519)CAC>TAC	p.H173Y	RDH10_uc003xzj.2_Missense_Mutation_p.H8Y	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	173					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TTGCCATGCACACTTCTGGGT	0.483													T	74209656	C	T	74209656	3	4	238	1	0	0	0	0	1	0	0	0	13189	478	17	4	523	4	RDH10	8	74209656	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	251333	74209656	72154366	313	120704											
FAM164A	51101	broad.mit.edu	37	chr8	79629711	79629711	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgctgtgaatgtggcattCgaagaatgattctatgaata	10	4	1	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:79629711C>T	uc003ybd.2	+	9	1063	c.961C>T	c.(961-963)CGA>TGA	p.R321*		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	321										ovary(1)	1						ATGTGGCATTCGAAGAATGAT	0.378													T	79629711	C	T	79629711	4	4	238	1	0	0	0	0	0	1	0	0	5478	876	31	1	995	1	FAM164A	8	79629711	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5420055	79629711	66734311	314	120705											
SLC26A7	115111	broad.mit.edu	37	chr8	92346557	92346557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaacatcaagtctgTgcgactggaagcattgcttt	9	7	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:92346557T>C	uc003yex.2	+	7	955	c.677T>C	c.(676-678)GTG>GCG	p.V226A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V226A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V226A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	226	Cytoplasmic (Potential).					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			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATCAAGTCTGTGCGACTGGAA	0.318													C	92346557	T	C	92346557	3	2	238	1	0	0	0	0	1	0	0	0	14522	1696	59	3	695	3	SLC26A7	8	92346557	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	12716846	92346557	54017465	315	120706											
MTERFD1	51001	broad.mit.edu	37	chr8	97269296	97269296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatctgaatagcctcttcCtctgaaattggctgcattgg	8	9	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:97269296C>A	uc003yhs.1	-	3	459	c.381G>T	c.(379-381)GAG>GAT	p.E127D	MTERFD1_uc003yhr.1_Missense_Mutation_p.E6D|MTERFD1_uc010mbd.1_Missense_Mutation_p.E127D	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	127					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)					TAGCCTCTTCCTCTGAAATTG	0.413													A	97269296	C	A	97269296	3	1	238	1	0	0	0	0	1	0	0	0	9919	680	24	5	896	5	MTERFD1	8	97269296	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4922739	97269296	49094726	316	120707											
VPS13B	157680	broad.mit.edu	37	chr8	100883725	100883725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccacatggccctggacGtggttctggtgaggggctca	15	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:100883725G>A	uc003yiv.2	+	61	11731	c.11620G>A	c.(11620-11622)GTG>ATG	p.V3874M	VPS13B_uc003yiw.2_Missense_Mutation_p.V3849M	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3874					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGCCCTGGACGTGGTTCTGGT	0.547													A	100883725	G	A	100883725	3	1	238	1	0	0	0	0	1	0	0	0	17187	1145	40	1	12052	1	VPS13B	8	100883725	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3614429	100883725	45480297	317	120708											
VPS13B	157680	broad.mit.edu	37	chr8	100883773	100883773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgaagggtgcttgctgCtgacatcagaagtgctcttc	12	9	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:100883773C>T	uc003yiv.2	+	61	11779	c.11668C>T	c.(11668-11670)CTG>TTG	p.L3890L	VPS13B_uc003yiw.2_Silent_p.L3865L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3890					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCTTGCTGCTGACATCAGA	0.567													T	100883773	C	T	100883773	2	4	238	1	0	0	0	0	0	0	0	1	17187	796	28	2		2	VPS13B	8	100883773	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	48	100883773	45480249	318	120709											
CSMD3	114788	broad.mit.edu	37	chr8	113516058	113516058	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgtaactaacagatcCatcactccgaaaagccaaat	5	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:113516058C>A	uc003ynu.2	-	30	5203	c.5044G>T	c.(5044-5046)GGA>TGA	p.G1682*	CSMD3_uc003yns.2_Nonsense_Mutation_p.G954*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1642*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1578*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1682	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTAACAGATCCATCACTCCGA	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113516058	C	A	113516058	4	1	238	1	0	0	0	0	0	1	0	0	3946	603	21	5	6247	5	CSMD3	8	113516058	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	12632285	113516058	32847964	319	120710											
TRPS1	7227	broad.mit.edu	37	chr8	116427277	116427277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctaataatctgctcaccGttgttttgtttaatgatgtt	6	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:116427277G>A	uc003ynz.2	-	6	3279	c.2820C>T	c.(2818-2820)AAC>AAT	p.N940N	TRPS1_uc011lhy.1_Silent_p.N944N|TRPS1_uc003yny.2_Silent_p.N953N|TRPS1_uc010mcy.2_Silent_p.N940N	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	940					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TCTGCTCACCGTTGTTTTGTT	0.403									Langer-Giedion_syndrome				A	116427277	G	A	116427277	2	1	238	1	0	0	0	0	0	0	0	1	16590	1136	40	1		1	TRPS1	8	116427277	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2911219	116427277	29936745	320	120711											
NOV	4856	broad.mit.edu	37	chr8	120430438	120430438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagctggatgtgctactgCctgagcctaactgcccagct	11	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:120430438C>T	uc003yoq.2	+	3	672	c.451C>T	c.(451-453)CCT>TCT	p.P151S		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	151	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	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)	TGTGCTACTGCCTGAGCCTAA	0.557													T	120430438	C	T	120430438	3	4	238	1	0	0	0	0	1	0	0	0	10553	739	26	2	461	2	NOV	8	120430438	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4003161	120430438	25933584	321	120712											
MTBP	27085	broad.mit.edu	37	chr8	121535566	121535566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtattagaaaagacaaGcaagaaatgatacataatca	8	5	1	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:121535566G>A	uc003ypc.1	+	22	2750	c.2705G>A	c.(2704-2706)AGC>AAC	p.S902N		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	902	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	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)			GAAAAGACAAGCAAGAAATGA	0.264													A	121535566	G	A	121535566	3	1	238	1	0	0	0	0	1	0	0	0	9912	971	34	2	2791	2	MTBP	8	121535566	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1105128	121535566	24828456	322	120713											
ZHX1	11244	broad.mit.edu	37	chr8	124266068	124266071	+	Frame_Shift_Del	DEL	AACT	AACT	-													ataacgggtgtccccaaaccAactaactatgtctgttctag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:124266067_124266070CAACT>C	uc003yqe.3	-	2	2727_2730	c.2117_2120AGTTG>G	c.(2116-2121)agttggfs	p.S706fs	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Frame_Shift_Del_p.S706fs|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Frame_Shift_Del_p.S706fs|ZHX1_uc022bak.1_Frame_Shift_Del_p.S706fs	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	706					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)			GTCCCCAAACCAACTAACTATGTC	0.451													-	124266071	AACT	-	124266068	7	5	238	1	0	1	0	1	0	0	0	0	17672	130	5	0	506	0	ZHX1	8	124266068	Frame_Shift_Del	DEL	AACT	TCGA-F1-A448-01A-11D-A24D-08	2730502	124266068	22097954	323	120714											
FAM135B	51059	broad.mit.edu	37	chr8	139164494	139164494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagagaagcctggatgcCgcttggcaaacttgtgttac	14	8	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:139164494C>T	uc003yuy.2	-	13	2395	c.2224G>A	c.(2224-2226)GGC>AGC	p.G742S	FAM135B_uc003yux.2_Missense_Mutation_p.G643S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G304S|FAM135B_uc003yvb.2_Missense_Mutation_p.G304S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	742										ovary(7)|skin(2)	9	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)			GCCTGGATGCCGCTTGGCAAA	0.522										HNSCC(54;0.14)			T	139164494	C	T	139164494	3	4	238	1	0	0	0	0	1	0	0	0	5449	652	23	1	2028	1	FAM135B	8	139164494	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	14898426	139164494	7199528	324	120715											
SLC45A4	57210	broad.mit.edu	37	chr8	142228256	142228256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggagagccacagcaggcGcaccgtggtctcgccctccc	12	17	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:142228256G>A	uc003ywd.1	-	4	1638	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C	SLC45A4_uc003ywc.1_Missense_Mutation_p.R444C|SLC45A4_uc010meq.1_Missense_Mutation_p.R442C	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	495					transport	integral to membrane				ovary(2)	2	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)			CACAGCAGGCGCACCGTGGTC	0.682													A	142228256	G	A	142228256	3	1	238	1	0	0	0	0	1	0	0	0	14643	1087	38	1	1086	1	SLC45A4	8	142228256	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3063762	142228256	4135766	325	120716											
NAPRT1	93100	broad.mit.edu	37	chr8	144658644	144658644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcggatctcctgagccTgctgtagcaggtcaccactg	11	14	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:144658644T>C	uc003yym.3	-	7	1005	c.980A>G	c.(979-981)CAG>CGG	p.Q327R	NAPRT1_uc003yyn.3_Missense_Mutation_p.Q327R|NAPRT1_uc011lkh.1_Missense_Mutation_p.Q327R|NAPRT1_uc003yyo.3_Missense_Mutation_p.Q327R	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	327					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCCTGAGCCTGCTGTAGCAG	0.652													C	144658644	T	C	144658644	3	2	238	1	0	0	0	0	1	0	0	0	10165	1580	55	3	664	3	NAPRT1	8	144658644	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2430388	144658644	1705378	326	120717											
PLEC	5339	broad.mit.edu	37	chr8	144993671	144993671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggtgctgcccgagtAggggtctctgtagccggtga	18	8	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:144993671A>G	uc003zaf.1	-	32	10899	c.10729T>C	c.(10729-10731)TAC>CAC	p.Y3577H	PLEC_uc003zab.1_Missense_Mutation_p.Y3440H|PLEC_uc003zac.1_Missense_Mutation_p.Y3444H|PLEC_uc003zad.2_Missense_Mutation_p.Y3440H|PLEC_uc003zae.1_Missense_Mutation_p.Y3408H|PLEC_uc003zag.1_Missense_Mutation_p.Y3418H|PLEC_uc003zah.2_Missense_Mutation_p.Y3426H|PLEC_uc003zaj.2_Missense_Mutation_p.Y3467H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3577	Plectin 14.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTGCCCGAGTAGGGGTCTCTG	0.682													G	144993671	A	G	144993671	3	3	238	1	0	0	0	0	1	0	0	0	12052	420	15	3	3329	3	PLEC	8	144993671	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	335027	144993671	1370351	327	120718											
PLEC	5339	broad.mit.edu	37	chr8	144997429	144997429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcctccacctggctgCgctggcgtgcggcctccgtg	13	18	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:144997429C>T	uc003zaf.1	-	31	7249	c.7079G>A	c.(7078-7080)CGC>CAC	p.R2360H	PLEC_uc003zab.1_Missense_Mutation_p.R2223H|PLEC_uc003zac.1_Missense_Mutation_p.R2227H|PLEC_uc003zad.2_Missense_Mutation_p.R2223H|PLEC_uc003zae.1_Missense_Mutation_p.R2191H|PLEC_uc003zag.1_Missense_Mutation_p.R2201H|PLEC_uc003zah.2_Missense_Mutation_p.R2209H|PLEC_uc003zaj.2_Missense_Mutation_p.R2250H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2360	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CACCTGGCTGCGCTGGCGTGC	0.657													T	144997429	C	T	144997429	3	4	238	1	0	0	0	0	1	0	0	0	12052	768	27	1	6983	1	PLEC	8	144997429	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3758	144997429	1366593	328	120719											
HSF1	3297	broad.mit.edu	37	chr8	145535422	145535422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagctccagcctctacGcccctgatgctgtggccagc	10	17	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:145535422G>A	uc003zbt.3	+	8	930	c.760G>A	c.(760-762)GCC>ACC	p.A254T	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	254	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	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)			CAGCCTCTACGCCCCTGATGC	0.677													A	145535422	G	A	145535422	3	1	238	1	0	0	0	0	1	0	0	0	7395	1087	38	1	790	1	HSF1	8	145535422	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	537993	145535422	828600	329	120720											
NFKBIL2	4796	broad.mit.edu	37	chr8	145661198	145661198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcttggctcgggcaCggggcctgctctcctcactg	14	15	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:145661198C>T	uc011llg.1	-	17	2633	c.2618G>A	c.(2617-2619)CGT>CAT	p.R873H	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	873					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			GGCTCGGGCACGGGGCCTGCT	0.582													T	145661198	C	T	145661198	3	4	238	1	0	0	0	0	1	0	0	0	10382	536	19	1	1558	1	NFKBIL2	8	145661198	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	125776	145661198	702824	330	120721											
GPT	2875	broad.mit.edu	37	chr8	145730163	145730163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttcccaggtcttggccCtctgtgttaaccctgatctt	8	14	4	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr8:145730163C>A	uc011lli.1	+	4	419	c.262C>A	c.(262-264)CTC>ATC	p.L88I	GPT_uc011llj.1_Missense_Mutation_p.L88I|GPT_uc003zdh.3_Missense_Mutation_p.L88I	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	88					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	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)	GGTCTTGGCCCTCTGTGTTAA	0.652													A	145730163	C	A	145730163	3	1	238	1	0	0	0	0	1	0	0	0	6737	681	24	5	272	5	GPT	8	145730163	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	68965	145730163	633859	331	120722											
INSL4	3641	broad.mit.edu	37	chr9	5231550	5231550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgttccggtcctatctGccagcaatctggctgctgct	10	14	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:5231550G>A	uc003ziy.2	+	1	132	c.27G>A	c.(25-27)CTG>CTA	p.L9L		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	9					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GGTCCTATCTGCCAGCAATCT	0.527													A	5231550	G	A	5231550	2	1	238	1	0	0	0	0	0	0	0	1	7768	1306	46	2		2	INSL4	9	5231550	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		5231550	135981881	332	120723											
C9orf93	203238	broad.mit.edu	37	chr9	15971659	15971659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcaagagctcctcttcCtgctgacacaactggtattg	7	13	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:15971659C>T	uc003zmd.2	+	26	4121	c.3806C>T	c.(3805-3807)CCT>CTT	p.P1269L	C9orf93_uc003zme.2_Missense_Mutation_p.P1184L|C9orf93_uc011lmu.1_Missense_Mutation_p.P1277L	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1269											0				GBM - Glioblastoma multiforme(50;4.84e-07)		GCTCCTCTTCCTGCTGACACA	0.363													T	15971659	C	T	15971659	3	4	238	1	0	0	0	0	1	0	0	0	2506	681	24	4	3904	4	C9orf93	9	15971659	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	10740109	15971659	125241772	333	120724											
ELAVL2	1993	broad.mit.edu	37	chr9	23704955	23704955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatacgagaagtaataatgcGtccatattgtgaaaaaagct	8	5	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:23704955G>A	uc003zpu.2	-	4	723	c.448C>T	c.(448-450)CGC>TGC	p.R150C	ELAVL2_uc003zps.2_Missense_Mutation_p.R150C|ELAVL2_uc003zpt.2_Missense_Mutation_p.R150C|ELAVL2_uc003zpv.2_Missense_Mutation_p.R150C|ELAVL2_uc003zpw.2_Missense_Mutation_p.R150C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	150	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTAATAATGCGTCCATATTGT	0.428													A	23704955	G	A	23704955	3	1	238	1	0	0	0	0	1	0	0	0	5050	1145	40	1	647	1	ELAVL2	9	23704955	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	7733296	23704955	117508476	334	120725											
TESK1	7016	broad.mit.edu	37	chr9	35609103	35609103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccattcccatccactcaGctgcccttggtgaccactcc	5	19	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:35609103G>T	uc003zxa.2	+	10	1581	c.1245G>T	c.(1243-1245)CAG>CAT	p.Q415H	TESK1_uc003zwz.1_Splice_Site|TESK1_uc010mks.2_Missense_Mutation_p.Q255H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	415					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATCCACTCAGCTGCCCTTGG	0.637													T	35609103	G	T	35609103	3	4	238	1	0	0	0	0	1	0	0	0	15764	962	34	5	1283	5	TESK1	9	35609103	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	11904148	35609103	105604328	335	120726											
TESK1	7016	broad.mit.edu	37	chr9	35609490	35609490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatagcctgccccgggcGgcagccctggagcggacaga	15	15	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:35609490G>A	uc003zxa.2	+	10	1968	c.1632G>A	c.(1630-1632)GCG>GCA	p.A544A	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.A384A	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	544					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCCCGGGCGGCAGCCCTGG	0.697													A	35609490	G	A	35609490	2	1	238	1	0	0	0	0	0	0	0	1	15764	1103	39	1		1	TESK1	9	35609490	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	387	35609490	105603941	336	120727											
TMEM8B	51754	broad.mit.edu	37	chr9	35852919	35852919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgggctccttaatgtcCgtgtgggtcactgtcattgc	11	11	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:35852919C>T	uc003zym.2	+	12	1930	c.915C>T	c.(913-915)TCC>TCT	p.S305S	TMEM8B_uc003zyo.2_Silent_p.S305S	NM_001042589	NP_001036054	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B isoform a	305	Helical; (Potential).				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			ovary(1)	1						CCTTAATGTCCGTGTGGGTCA	0.537													T	35852919	C	T	35852919	2	4	238	1	0	0	0	0	0	0	0	1	16212	639	23	1		1	TMEM8B	9	35852919	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	243429	35852919	105360512	337	120728											
FRMPD1	22844	broad.mit.edu	37	chr9	37744455	37744455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaggccagcacttctagccCtgagaacagcctgccttgtg	10	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:37744455C>A	uc004aag.1	+	16	2470	c.2426C>A	c.(2425-2427)CCT>CAT	p.P809H	FRMPD1_uc004aah.1_Missense_Mutation_p.P809H	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	809						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		ACTTCTAGCCCTGAGAACAGC	0.502													A	37744455	C	A	37744455	3	1	238	1	0	0	0	0	1	0	0	0	6057	681	24	5	2484	5	FRMPD1	9	37744455	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1891536	37744455	103468976	338	120729											
FAM189A2	9413	broad.mit.edu	37	chr9	71990713	71990713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcaaccagccaagtgcaCagacaaagaaaatgccttga	7	10	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:71990713C>T	uc010mon.1	+	4	289	c.185C>T	c.(184-186)ACA>ATA	p.T62I	FAM189A2_uc004ahg.2_Missense_Mutation_p.T62I|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61 precursor	62						integral to membrane					0						GCCAAGTGCACAGACAAAGAA	0.413													T	71990713	C	T	71990713	3	4	238	1	0	0	0	0	1	0	0	0	5516	478	17	4	195	4	FAM189A2	9	71990713	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	34246258	71990713	69222718	339	120730											
TRPM3	80036	broad.mit.edu	37	chr9	73225553	73225553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaacttcacgatgggtGcattgtagaattcatagatt	9	7	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:73225553G>A	uc004aid.2	-	18	2847	c.2603C>T	c.(2602-2604)GCA>GTA	p.A868V	TRPM3_uc004ahu.2_Missense_Mutation_p.A698V|TRPM3_uc004ahv.2_Missense_Mutation_p.A670V|TRPM3_uc004ahw.2_Missense_Mutation_p.A740V|TRPM3_uc004ahx.2_Missense_Mutation_p.A727V|TRPM3_uc004ahy.2_Missense_Mutation_p.A730V|TRPM3_uc004ahz.2_Missense_Mutation_p.A717V|TRPM3_uc004aia.2_Missense_Mutation_p.A715V|TRPM3_uc004aib.2_Missense_Mutation_p.A705V|TRPM3_uc004aic.2_Missense_Mutation_p.A868V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	893	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CACGATGGGTGCATTGTAGAA	0.478													A	73225553	G	A	73225553	3	1	238	1	0	0	0	0	1	0	0	0	16584	1319	46	2	2552	2	TRPM3	9	73225553	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1234840	73225553	67987878	340	120731											
C9orf41	138199	broad.mit.edu	37	chr9	77599854	77599854	+	Frame_Shift_Del	DEL	T	T	-													atccatactgcagaacaacgTtttttatatcctcatagctc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:77599853_77599853GT>G	uc004ajq.3	-	6	1251	c.1098_1098AC>C	c.(1096-1098)aacfs	p.N366fs	BC043649_uc004ajp.3_Intron|C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	366										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GCAGAACAACGTTTTTTATAT	0.358													-	77599854	T	-	77599854	7	5	238	1	0	1	0	1	0	0	0	0	2482	1725	60	0	140	0	C9orf41	9	77599854	Frame_Shift_Del	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	4374301	77599854	63613577	341	120732											
PRUNE2	158471	broad.mit.edu	37	chr9	79469111	79469111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatggaccttctccaagCgtttgcttcgattctgaaac	7	13	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:79469111C>T	uc010mpk.2	-	2	174	c.50G>A	c.(49-51)CGC>CAC	p.R17H	PRUNE2_uc004akn.2_Missense_Mutation_p.R17H	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	17					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTTCTCCAAGCGTTTGCTTCG	0.338													T	79469111	C	T	79469111	3	4	238	1	0	0	0	0	1	0	0	0	12641	768	27	1	9288	1	PRUNE2	9	79469111	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1869257	79469111	61744320	342	120733											
S1PR3	1903	broad.mit.edu	37	chr9	91615967	91615967	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctttttatctgttggcAggagccctttttcaacgccc	7	14	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:91615967A>G	uc004aqe.2	+	2	250	c.-146_splice	c.e2-2			NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3						anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						ATCTGTTGGCAGGAGCCCTTT	0.542											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	91615967	A	G	91615967	5	3	238	1	0	0	0	0	0	0	1	0	13795	202	7	3		3	S1PR3	9	91615967	Splice_Site	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	12146856	91615967	49597464	343	120734											
FAM22F	54754	broad.mit.edu	37	chr9	97082562	97082562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtctgaggttatcccGtcctcttcctgcggctgctc	11	16	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:97082562G>A	uc004aup.1	-	5	1317	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	432											0		Acute lymphoblastic leukemia(62;0.136)				AGGTTATCCCGTCCTCTTCCT	0.597													A	97082562	G	A	97082562	2	1	238	1	0	0	0	0	0	0	0	1	5545	1136	40	1		1	FAM22F	9	97082562	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5466595	97082562	44130869	344	120735											
TEX10	54881	broad.mit.edu	37	chr9	103065973	103065973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaacatatgagtcctgaGgggtgcatgctgaagcagca	14	8	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:103065973G>T	uc004bas.2	-	14	2832	c.2617C>A	c.(2617-2619)CTC>ATC	p.L873I	TEX10_uc011lvf.1_Missense_Mutation_p.L712I|TEX10_uc011lvg.1_Missense_Mutation_p.L857I	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	873						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGAGTCCTGAGGGGTGCATGC	0.532													T	103065973	G	T	103065973	3	4	238	1	0	0	0	0	1	0	0	0	15769	1000	35	5	180	5	TEX10	9	103065973	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5983411	103065973	38147458	345	120736											
OR13C9	286362	broad.mit.edu	37	chr9	107380214	107380214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagccagaaaaggaaatgGtctttctttctgaaaggaag	10	7	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:107380214G>T	uc011lvr.1	-	1	272	c.272C>A	c.(271-273)ACC>AAC	p.T91N		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAAGGAAATGGTCTTTCTTTC	0.502													T	107380214	G	T	107380214	3	4	238	1	0	0	0	0	1	0	0	0	10939	1261	44	5	687	5	OR13C9	9	107380214	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4314241	107380214	33833217	346	120737											
PTPN3	5774	broad.mit.edu	37	chr9	112216842	112216842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactcgaaaatgcagggtaCaggggaaacctcctacaaca	9	10	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:112216842C>T	uc004bed.2	-	5	414	c.302G>A	c.(301-303)TGT>TAT	p.C101Y	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.C101Y|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.3_3'UTR	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	101	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			ovary(3)	3						ATGCAGGGTACAGGGGAAACC	0.338													T	112216842	C	T	112216842	3	4	238	1	0	0	0	0	1	0	0	0	12789	478	17	4	2527	4	PTPN3	9	112216842	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4836628	112216842	28996589	347	120738											
C9orf84	158401	broad.mit.edu	37	chr9	114508553	114508553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaatgtctgaagttctGtacgtaatgaattcactgaa	9	5	3	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:114508553G>A	uc004bfr.2	-	8	983	c.848C>T	c.(847-849)ACA>ATA	p.T283I	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.T347I|C9orf84_uc004bfq.2_Missense_Mutation_p.T244I|C9orf84_uc010mug.2_Missense_Mutation_p.T229I	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	283										ovary(2)	2						CTGAAGTTCTGTACGTAATGA	0.318													A	114508553	G	A	114508553	3	1	238	1	0	0	0	0	1	0	0	0	2500	1377	48	4	3562	4	C9orf84	9	114508553	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2291711	114508553	26704878	348	120739											
COL27A1	85301	broad.mit.edu	37	chr9	116973274	116973274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagggcctgcctggcGttcctggcaagaggggcaag	16	13	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:116973274G>A	uc011lxl.1	+	12	2335	c.2335G>A	c.(2335-2337)GTT>ATT	p.V779I	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.V578I	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	779	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCTGCCTGGCGTTCCTGGCAA	0.647													A	116973274	G	A	116973274	3	1	238	1	0	0	0	0	1	0	0	0	3685	1145	40	1	2381	1	COL27A1	9	116973274	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2464721	116973274	24240157	349	120740											
C9orf91	203197	broad.mit.edu	37	chr9	117389184	117389184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttccaagcaggtcccGgctgaccagtacaggagctt	13	12	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:117389184G>A	uc004bjd.3	+	4	439	c.222G>A	c.(220-222)CCG>CCA	p.P74P	C9orf91_uc004bje.3_Silent_p.P53P|C9orf91_uc004bjf.3_5'UTR	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	74						integral to membrane				pancreas(1)	1						AGCAGGTCCCGGCTGACCAGT	0.328													A	117389184	G	A	117389184	2	1	238	1	0	0	0	0	0	0	0	1	2505	1103	39	1		1	C9orf91	9	117389184	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	415910	117389184	23824247	350	120741											
TLR4	7099	broad.mit.edu	37	chr9	120476352	120476352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtatctgttgtagcagTtctggtctataagttctatt	9	5	4	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:120476352T>G	uc004bjz.2	+	3	2237	c.1946T>G	c.(1945-1947)GTT>GGT	p.V649G	TLR4_uc004bka.2_Missense_Mutation_p.V609G|TLR4_uc004bkb.2_Missense_Mutation_p.V449G	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	649	Helical; (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						GTTGTAGCAGTTCTGGTCTAT	0.428													G	120476352	T	G	120476352	3	3	238	1	0	0	0	0	1	0	0	0	15950	1725	60	5	1956	5	TLR4	9	120476352	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3087168	120476352	20737079	351	120742											
OR5C1	392391	broad.mit.edu	37	chr9	125551964	125551964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggttcccacctcacagcCgtggccatgatgtacgggac	13	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:125551964C>T	uc011lzd.1	+	1	753	c.753C>T	c.(751-753)GCC>GCT	p.A251A		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						ACCTCACAGCCGTGGCCATGA	0.597													T	125551964	C	T	125551964	2	4	238	1	0	0	0	0	0	0	0	1	11153	639	23	1		1	OR5C1	9	125551964	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5075612	125551964	15661467	352	120743											
RABGAP1	23637	broad.mit.edu	37	chr9	125863866	125863866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagtggatgactgtgagCggtgccgggaatttttcaac	13	6	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:125863866C>T	uc011lzh.1	+	25	3045	c.2911C>T	c.(2911-2913)CGG>TGG	p.R971W	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.R310W	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	971	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TGACTGTGAGCGGTGCCGGGA	0.463													T	125863866	C	T	125863866	3	4	238	1	0	0	0	0	1	0	0	0	12964	759	27	1	3005	1	RABGAP1	9	125863866	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	311902	125863866	15349565	353	120744											
GOLGA1	2800	broad.mit.edu	37	chr9	127651570	127651570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgtatctgcagcaggGcagagttgtgacctaggtcg	16	8	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:127651570G>A	uc004bpc.2	-	18	1955	c.1613C>T	c.(1612-1614)GCC>GTC	p.A538V	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	538	Potential.|Gln-rich.					Golgi cisterna membrane				ovary(1)	1						CTGCAGCAGGGCAGAGTTGTG	0.662													A	127651570	G	A	127651570	3	1	238	1	0	0	0	0	1	0	0	0	6551	1203	42	2	714	2	GOLGA1	9	127651570	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1787704	127651570	13561861	354	120745											
USP20	10868	broad.mit.edu	37	chr9	132640637	132640637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacaaggccttccaggcCgaggagtcgccgggcgtcat	14	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:132640637C>T	uc004bys.2	+	23	2641	c.2430C>T	c.(2428-2430)GCC>GCT	p.A810A	USP20_uc004byr.2_Silent_p.A810A|USP20_uc004byt.1_Silent_p.A810A|USP20_uc004byu.1_5'Flank	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	810	DUSP 2.				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	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CCTTCCAGGCCGAGGAGTCGC	0.612													T	132640637	C	T	132640637	2	4	238	1	0	0	0	0	0	0	0	1	17049	639	23	1		1	USP20	9	132640637	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4989067	132640637	8572794	355	120746											
LAMC3	10319	broad.mit.edu	37	chr9	133914413	133914413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggacccgcggatgccatGccagccctgtgactgccagt	13	15	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:133914413G>A	uc004caa.1	+	5	1237	c.1139G>A	c.(1138-1140)TGC>TAC	p.C380Y		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	380	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGGATGCCATGCCAGCCCTGT	0.642													A	133914413	G	A	133914413	3	1	238	1	0	0	0	0	1	0	0	0	8616	1319	46	2	1157	2	LAMC3	9	133914413	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1273776	133914413	7299018	356	120747											
FCN2	2220	broad.mit.edu	37	chr9	137778354	137778354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagatcattcaaggtggCcgacgaggcggagaagtaca	14	8	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:137778354C>T	uc004cfg.1	+	7	648	c.638C>T	c.(637-639)GCC>GTC	p.A213V	FCN2_uc004cfh.1_Missense_Mutation_p.A175V	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	213	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TTCAAGGTGGCCGACGAGGCG	0.577													T	137778354	C	T	137778354	3	4	238	1	0	0	0	0	1	0	0	0	5792	739	26	2	664	2	FCN2	9	137778354	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3863941	137778354	3435077	357	120748											
KCNT1	57582	broad.mit.edu	37	chr9	138594140	138594140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgcggaccccggggggCgtctgccgggaggcgcgcgg	24	13	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:138594140C>T	uc011mdq.1	+	1	110	c.36C>T	c.(34-36)GGC>GGT	p.G12G	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Silent_p.G12G|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	12						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ccccggggggcgtctgccggg	0.507													T	138594140	C	T	138594140	2	4	238	1	0	0	0	0	0	0	0	1	8091	755	27	1		1	KCNT1	9	138594140	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	815786	138594140	2619291	358	120749											
SEC16A	9919	broad.mit.edu	37	chr9	139371919	139371919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaaatggatccgtgaccGgctgcaacgggcaagttgtc	13	10	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139371919G>A	uc004chx.2	-	3	458	c.149C>T	c.(148-150)CCG>CTG	p.P50L	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.P50L|SEC16A_uc010nbn.2_Missense_Mutation_p.P50L|SEC16A_uc010nbo.1_Missense_Mutation_p.P50L	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCGTGACCGGCTGCAACGG	0.577													A	139371919	G	A	139371919	3	1	238	1	0	0	0	0	1	0	0	0	13986	1116	39	1	7044	1	SEC16A	9	139371919	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	777779	139371919	1841512	359	120750											
NOTCH1	4851	broad.mit.edu	37	chr9	139395053	139395053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcatgcagcggggtgCggcccatgttgtcctggatg	16	12	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139395053C>T	uc004chz.2	-	31	5885	c.5885G>A	c.(5884-5886)CGC>CAC	p.R1962H		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1962	ANK 2.|Cytoplasmic (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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGCGGGGTGCGGCCCATGTT	0.677			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139395053	C	T	139395053	3	4	238	1	0	0	0	0	1	0	0	0	10547	768	27	1	1798	1	NOTCH1	9	139395053	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	23134	139395053	1818378	360	120751											
FAM69B	138311	broad.mit.edu	37	chr9	139612106	139612106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcagctggctggtgtaCgtgcactactcgtcctactc	12	13	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139612106C>T	uc004cik.2	+	2	235	c.141C>T	c.(139-141)TAC>TAT	p.Y47Y		NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	47	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0	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)		GGCTGGTGTACGTGCACTACT	0.667													T	139612106	C	T	139612106	2	4	238	1	0	0	0	0	0	0	0	1	5603	547	19	1		1	FAM69B	9	139612106	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	217053	139612106	1601325	361	120752											
MAMDC4	158056	broad.mit.edu	37	chr9	139747775	139747775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctgggcgcccccttcGcctgtgacttcgagcaggac	11	18	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139747775G>A	uc004cjs.2	+	3	243	c.193G>A	c.(193-195)GCC>ACC	p.A65T	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	65	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		CGCCCCCTTCGCCTGTGACTT	0.692													A	139747775	G	A	139747775	3	1	238	1	0	0	0	0	1	0	0	0	9204	1087	38	1	203	1	MAMDC4	9	139747775	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	135669	139747775	1465656	362	120753											
C8G	733	broad.mit.edu	37	chr9	139840987	139840987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggaggcccacctgacTgaggaccagatcttctactt	10	13	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139840987T>C	uc004cka.2	+	5	600	c.525T>C	c.(523-525)ACT>ACC	p.T175T	FBXW5_uc004cjx.2_5'Flank|FBXW5_uc004cjy.2_5'Flank|FBXW5_uc004cjz.2_5'Flank	NM_000606	NP_000597	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	175					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity				0	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)		CCCACCTGACTGAGGACCAGA	0.647													C	139840987	T	C	139840987	2	2	238	1	0	0	0	0	0	0	0	1	2418	1567	55	3		3	C8G	9	139840987	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	93212	139840987	1372444	363	120754											
ABCA2	20	broad.mit.edu	37	chr9	139910181	139910181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgcgcgtaggggtccaCgcccgccgtgggctcgtcca	17	16	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:139910181C>T	uc011mem.1	-	22	3605	c.3457G>A	c.(3457-3459)GTG>ATG	p.V1153M	ABCA2_uc011mel.1_Missense_Mutation_p.V1154M|ABCA2_uc004ckl.1_Missense_Mutation_p.V1084M|ABCA2_uc004ckm.1_Missense_Mutation_p.V1184M|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1153	ABC transporter 1.				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				0	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)		TAGGGGTCCACGCCCGCCGTG	0.697													T	139910181	C	T	139910181	3	4	238	1	0	0	0	0	1	0	0	0	32	536	19	1	3958	1	ABCA2	9	139910181	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	69194	139910181	1303250	364	120755											
ANAPC2	29882	broad.mit.edu	37	chr9	140077586	140077586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccctcacctcaggtagCggcggataggctcacaggcc	13	15	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:140077586C>T	uc004clr.1	-	6	1350	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	ANAPC2_uc004clq.1_Missense_Mutation_p.R282H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	426					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			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCTCAGGTAGCGGCGGATAGG	0.642													T	140077586	C	T	140077586	3	4	238	1	0	0	0	0	1	0	0	0	603	768	27	1	1223	1	ANAPC2	9	140077586	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	167405	140077586	1135845	365	120756											
EHMT1	79813	broad.mit.edu	37	chr9	140685301	140685301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgttgtttcactaggCgggcgctaatattgacacct	10	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr9:140685301C>T	uc011mfc.1	+	16	2421	c.2384C>T	c.(2383-2385)GCG>GTG	p.A795V	EHMT1_uc004cob.1_Missense_Mutation_p.A764V	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	795	ANK 2.				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)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTTCACTAGGCGGGCGCTAAT	0.517													T	140685301	C	T	140685301	3	4	238	1	0	0	0	0	1	0	0	0	4983	782	27	1	2495	1	EHMT1	9	140685301	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	607715	140685301	528130	366	120757											
OPTN	10133	broad.mit.edu	37	chr10	13174160	13174160	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcattgcagctggcagttCtgctgaaagagaatgatgct	13	7	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:13174160C>T	uc001ilu.1	+	14	1933	c.1495C>T	c.(1495-1497)CTG>TTG	p.L499L	OPTN_uc001ilv.1_Silent_p.L499L|OPTN_uc001ilw.1_Silent_p.L499L|OPTN_uc001ilx.1_Silent_p.L499L|OPTN_uc001ily.1_Silent_p.L493L|OPTN_uc010qbr.1_Silent_p.L442L|OPTN_uc001ilz.1_Silent_p.L493L	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	499	Potential.|Interaction with MYO6.|Interaction with HD.				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			ovary(2)	2						GCTGGCAGTTCTGCTGAAAGA	0.478													T	13174160	C	T	13174160	2	4	238	1	0	0	0	0	0	0	0	1	10889	912	32	4		4	OPTN	10	13174160	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		13174160	122360587	367	120758											
RPP38	10557	broad.mit.edu	37	chr10	15145637	15145637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtggacgcctgcacaCgtcaggaagcagcttgccat	13	12	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:15145637C>T	uc001iny.3	+	3	1037	c.324C>T	c.(322-324)CAC>CAT	p.H108H	RPP38_uc009xjm.2_Silent_p.H108H|RPP38_uc001inx.3_Silent_p.H108H	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	108					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						CGCCTGCACACGTCAGGAAGC	0.483													T	15145637	C	T	15145637	2	4	238	1	0	0	0	0	0	0	0	1	13613	535	19	1		1	RPP38	10	15145637	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1971477	15145637	120389110	368	120759											
ITGA8	8516	broad.mit.edu	37	chr10	15590532	15590532	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgagtcgtcccactgcAcaggagatttgtaaacactc	8	13	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:15590532A>G	uc001ioc.1	-	27	2802	c.2802T>C	c.(2800-2802)TGT>TGC	p.C934C	ITGA8_uc010qcb.1_Silent_p.C919C	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	934	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GTCCCACTGCACAGGAGATTT	0.458													G	15590532	A	G	15590532	2	3	238	1	0	0	0	0	0	0	0	1	7882	157	6	3		3	ITGA8	10	15590532	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	444895	15590532	119944215	369	120760											
GPR158	57512	broad.mit.edu	37	chr10	25887710	25887710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaatctcaccacaagcCtaaggcagctgaggtttgtc	11	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:25887710C>A	uc001isj.2	+	11	3215	c.3155C>A	c.(3154-3156)CCT>CAT	p.P1052H	GPR158_uc001isk.2_Missense_Mutation_p.P427H	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1052	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CACCACAAGCCTAAGGCAGCT	0.443													A	25887710	C	A	25887710	3	1	238	1	0	0	0	0	1	0	0	0	6663	681	24	5	3197	5	GPR158	10	25887710	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	10297178	25887710	109647037	370	120761											
ZNF488	118738	broad.mit.edu	37	chr10	48370748	48370748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgggatgtgggcagtgcGgagctggcactgttggtagc	20	8	0	0	rs147280746		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:48370748G>A	uc001jex.2	+	2	378	c.216G>A	c.(214-216)GCG>GCA	p.A72A	ZNF488_uc001jey.2_Intron	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGGGCAGTGCGGAGCTGGCAC	0.701													A	48370748	G	A	48370748	2	1	238	1	0	0	0	0	0	0	0	1	17937	1103	39	1		1	ZNF488	10	48370748	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	22483038	48370748	87163999	371	120762											
OGDHL	55753	broad.mit.edu	37	chr10	50959982	50959982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactggcactgctccacatCgttgatgaacatgaactcca	7	14	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:50959982C>T	uc001jie.2	-	6	782	c.640G>A	c.(640-642)GAT>AAT	p.D214N	OGDHL_uc009xog.2_Missense_Mutation_p.D241N|OGDHL_uc010qgt.1_Missense_Mutation_p.D157N|OGDHL_uc010qgu.1_Missense_Mutation_p.D5N|OGDHL_uc009xoh.2_Missense_Mutation_p.D5N	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	214					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						TGCTCCACATCGTTGATGAAC	0.597													T	50959982	C	T	50959982	3	4	238	1	0	0	0	0	1	0	0	0	10840	884	31	1	2464	1	OGDHL	10	50959982	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2589234	50959982	84574765	372	120763											
TMEM26	219623	broad.mit.edu	37	chr10	63170171	63170171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgttctgccagtcccgcTgagagggcccactctcagag	11	15	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:63170171T>C	uc001jlo.2	-	6	1385	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	339						integral to membrane					0	Prostate(12;0.0112)					CCAGTCCCGCTGAGAGGGCCC	0.582													C	63170171	T	C	63170171	3	2	238	1	0	0	0	0	1	0	0	0	16148	1580	55	3	94	3	TMEM26	10	63170171	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	12210189	63170171	72364576	373	120764											
DNAJC12	56521	broad.mit.edu	37	chr10	69565413	69565413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgctccgttttctctgCggttgaagccagctcctctt	8	13	3	1	rs74142901	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:69565413C>T	uc001jnb.2	-	4	598	c.430G>A	c.(430-432)GCA>ACA	p.A144T		NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	144					protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1						GTTTTCTCTGCGGTTGAAGCC	0.443													T	69565413	C	T	69565413	3	4	238	1	0	0	0	0	1	0	0	0	4631	768	27	1	174	1	DNAJC12	10	69565413	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	6395242	69565413	65969334	374	120765											
HK1	3098	broad.mit.edu	37	chr10	71139659	71139659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaagaaatcctgacccGcctgggagtggagccgtccg	13	13	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:71139659G>A	uc001jpl.3	+	9	1174	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	HK1_uc001jpg.3_Missense_Mutation_p.R346H|HK1_uc001jph.3_Missense_Mutation_p.R362H|HK1_uc001jpi.3_Missense_Mutation_p.R362H|HK1_uc001jpj.3_Missense_Mutation_p.R393H|HK1_uc001jpk.3_Missense_Mutation_p.R357H|HK1_uc009xqd.2_Missense_Mutation_p.R236H	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	358	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATCCTGACCCGCCTGGGAGTG	0.537													A	71139659	G	A	71139659	3	1	238	1	0	0	0	0	1	0	0	0	7190	1087	38	1	1285	1	HK1	10	71139659	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1574246	71139659	64395088	375	120766											
TACR2	6865	broad.mit.edu	37	chr10	71175906	71175906	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcatcctccgatgggccagGatgatccagatgacgatggc	13	12	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:71175906G>A	uc001jpn.2	-	1	769	c.174C>T	c.(172-174)ATC>ATT	p.I58I		NM_001057	NP_001048	P21452	NK2R_HUMAN	tachykinin receptor 2	58	Cytoplasmic (Potential).				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			prostate(1)	1					Clonidine(DB00575)|Octreotide(DB00104)	GATGGGCCAGGATGATCCAGA	0.597													A	71175906	G	A	71175906	2	1	238	1	0	0	0	0	0	0	0	1	15503	1164	41	4		4	TACR2	10	71175906	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	36247	71175906	64358841	376	120767											
KIAA1274	27143	broad.mit.edu	37	chr10	72285775	72285775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatttgagggcctacaggGcagtggcacgatggacagtc	14	11	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:72285775G>A	uc001jrd.3	+	2	349	c.68G>A	c.(67-69)GGC>GAC	p.G23D		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	23										ovary(2)|central_nervous_system(1)	3						GGCCTACAGGGCAGTGGCACG	0.602													A	72285775	G	A	72285775	3	1	238	1	0	0	0	0	1	0	0	0	8220	1203	42	2	70	2	KIAA1274	10	72285775	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1109869	72285775	63248972	377	120768											
CDH23	64072	broad.mit.edu	37	chr10	73464803	73464803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgagctggaccgcgagCgcatcgcggagtaccagctg	14	15	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:73464803C>T	uc001jrx.3	+	24	3246	c.2869C>T	c.(2869-2871)CGC>TGC	p.R957C	CDH23_uc001jry.2_Missense_Mutation_p.R573C|CDH23_uc001jrz.2_Missense_Mutation_p.R573C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	957	Cadherin 9.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGACCGCGAGCGCATCGCGGA	0.677													T	73464803	C	T	73464803	3	4	238	1	0	0	0	0	1	0	0	0	3108	768	27	1	3190	1	CDH23	10	73464803	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1179028	73464803	62069944	378	120769											
DDIT4	54541	broad.mit.edu	37	chr10	74034058	74034058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaactcccaccccagatcgGccgccgcgctcagcctgggg	12	19	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:74034058G>A	uc001jsx.1	+	2	286	c.84G>A	c.(82-84)CGG>CGA	p.R28R		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	28					apoptosis					pancreas(1)	1						CCCCAGATCGGCCGCCGCGCT	0.677													A	74034058	G	A	74034058	2	1	238	1	0	0	0	0	0	0	0	1	4331	1190	42	2		2	DDIT4	10	74034058	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	569255	74034058	61500689	379	120770											
LIPA	3988	broad.mit.edu	37	chr10	90984920	90984920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaggcgacggaagccacagGacccagggcaaaaaacattt	12	10	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:90984920G>T	uc001kga.3	-	6	772	c.604C>A	c.(604-606)CCT>ACT	p.P202T	LIPA_uc001kgb.3_Missense_Mutation_p.P146T|LIPA_uc001kgc.3_Missense_Mutation_p.P204T|LIPA_uc010qnf.1_Missense_Mutation_p.P7T|LIPA_uc009xtq.2_Missense_Mutation_p.P202T|LIPA_uc009xtr.1_5'Flank	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	202					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GAAGCCACAGGACCCAGGGCA	0.458													T	90984920	G	T	90984920	3	4	238	1	0	0	0	0	1	0	0	0	8819	1174	41	5	615	5	LIPA	10	90984920	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	16950862	90984920	44549827	380	120771											
CEP55	55165	broad.mit.edu	37	chr10	95287825	95287825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcactcaatgaaagccTggtggaatgtcccaagtgca	11	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:95287825T>C	uc009xug.2	+	9	1492	c.1310T>C	c.(1309-1311)CTG>CCG	p.L437P	CEP55_uc001kiq.3_Missense_Mutation_p.L437P	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	437	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				AATGAAAGCCTGGTGGAATGT	0.453													C	95287825	T	C	95287825	3	2	238	1	0	0	0	0	1	0	0	0	3255	1580	55	3	1340	3	CEP55	10	95287825	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	4302905	95287825	40246922	381	120772											
CYP2C19	1557	broad.mit.edu	37	chr10	96602617	96602617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccaggaagagattgaaCgtgtcgttggcagaaaccgg	14	7	0	3	rs59734894		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:96602617C>T	uc010qnz.1	+	7	985	c.985C>T	c.(985-987)CGT>TGT	p.R329C	CYP2C19_uc010qny.1_Missense_Mutation_p.R307C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	329			R -> H (in allele CYP2C19*18).		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			ovary(4)|central_nervous_system(1)|skin(1)	6		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)	AGAGATTGAACGTGTCGTTGG	0.493													T	96602617	C	T	96602617	3	4	238	1	0	0	0	0	1	0	0	0	4166	536	19	1	1011	1	CYP2C19	10	96602617	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1314792	96602617	38932130	382	120773											
PDCD4	27250	broad.mit.edu	37	chr10	112641116	112641116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacgaagctagaattaatGccaaggcaaaaaggcgacta	9	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:112641116G>A	uc001kzh.2	+	3	412	c.169G>A	c.(169-171)GCC>ACC	p.A57T	PDCD4_uc001kzg.2_Missense_Mutation_p.A46T|PDCD4_uc010qre.1_Missense_Mutation_p.A43T	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	57					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAGAATTAATGCCAAGGCAAA	0.448													A	112641116	G	A	112641116	3	1	238	1	0	0	0	0	1	0	0	0	11621	1319	46	2	189	2	PDCD4	10	112641116	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	16038499	112641116	22893631	383	120774											
TCF7L2	6934	broad.mit.edu	37	chr10	114925398	114925398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaagcttactagattcGcctcccccctccccgaacct	7	17	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:114925398G>A	uc001lae.3	+	14	1983	c.1476G>A	c.(1474-1476)TCG>TCA	p.S492S	TCF7L2_uc001lac.3_Silent_p.S486S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.S469S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.S469S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.S424S|TCF7L2_uc010qrs.1_Silent_p.S380S|TCF7L2_uc010qrt.1_Silent_p.S380S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	509					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TACTAGATTCGCCTCCCCCCT	0.587													A	114925398	G	A	114925398	2	1	238	1	0	0	0	0	0	0	0	1	15695	1074	38	1		1	TCF7L2	10	114925398	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2284282	114925398	20609349	384	120775											
TACC2	10579	broad.mit.edu	37	chr10	123842651	123842651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagccaatgaaggcaccGctgtgtggagagggggacca	17	8	0	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:123842651G>A	uc001lfv.2	+	4	996	c.636G>A	c.(634-636)CCG>CCA	p.P212P	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P212P|TACC2_uc010qtv.1_Silent_p.P212P	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	212						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAAGGCACCGCTGTGTGGAG	0.592													A	123842651	G	A	123842651	2	1	238	1	0	0	0	0	0	0	0	1	15499	1074	38	1		1	TACC2	10	123842651	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	8917253	123842651	11692096	385	120776											
DMBT1	1755	broad.mit.edu	37	chr10	124348577	124348577	+	Missense_Mutation	SNP	A	A	G													tgatgacagctgggacaccaAtgatgccaatgtggtctgca							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:124348577A>G	uc001lgk.1	+	17	2007	c.1901A>G	c.(1900-1902)AAT>AGT	p.N634S	DMBT1_uc001lgl.1_Missense_Mutation_p.N624S|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.N634S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	634	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGACACCAATGATGCCAAT	0.617													G	124348577	A	G	124348577	3	3	238	1	0	0	0	0	1	0	0	0	4577	101	4	3	1967	3	DMBT1	10	124348577	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	505926	124348577	11186170	386	120777	618	2									
DMBT1	1755	broad.mit.edu	37	chr10	124348581	124348581	+	Silent	SNP	T	T	C													gacagctgggacaccaatgaTgccaatgtggtctgcaggca							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:124348581T>C	uc001lgk.1	+	17	2011	c.1905T>C	c.(1903-1905)GAT>GAC	p.D635D	DMBT1_uc001lgl.1_Silent_p.D625D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.D635D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	635	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACACCAATGATGCCAATGTGG	0.607													C	124348581	T	C	124348581	2	2	238	1	0	0	0	0	0	0	0	1	4577	1461	51	3		3	DMBT1	10	124348581	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	4	124348581	11186166	387	120778	618	2									
FAM196A	642938	broad.mit.edu	37	chr10	128974382	128974382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgttggggatggacctgCgtgcgggcactgtcatgtat	16	8	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:128974382C>T	uc001lju.1	-	1	319	c.278G>A	c.(277-279)CGC>CAC	p.R93H	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.R93H|FAM196A_uc001ljv.1_Missense_Mutation_p.R93H|FAM196A_uc009yap.1_Missense_Mutation_p.R93H	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	93								p.R93C(1)		ovary(2)	2						GATGGACCTGCGTGCGGGCAC	0.617													T	128974382	C	T	128974382	3	4	238	1	0	0	0	0	1	0	0	0	5528	768	27	1	1173	1	FAM196A	10	128974382	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4625801	128974382	6560365	388	120779											
KNDC1	85442	broad.mit.edu	37	chr10	135026342	135026342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacttctacggcccctgCgccaagaccagtgagaaggg	14	12	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr10:135026342C>T	uc001llz.1	+	24	4360	c.4359C>T	c.(4357-4359)TGC>TGT	p.C1453C		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1453					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		ACGGCCCCTGCGCCAAGACCA	0.647													T	135026342	C	T	135026342	2	4	238	1	0	0	0	0	0	0	0	1	8426	776	27	1		1	KNDC1	10	135026342	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	6051960	135026342	508405	389	120780											
CDHR5	53841	broad.mit.edu	37	chr11	618676	618676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgtgcccccaccgGgtgtggttggttggtgggag	18	9	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:618676G>T	uc001lqj.2	-	13	1988	c.1883C>A	c.(1882-1884)CCC>CAC	p.P628H	IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.P462H|CDHR5_uc009ycd.2_Missense_Mutation_p.P622H|CDHR5_uc001lql.2_Missense_Mutation_p.P628H	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	628	4 X 31 AA approximate tandem repeats.|3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GCCCCCACCGGGTGTGGTTGG	0.652													T	618676	G	T	618676	3	4	238	1	0	0	0	0	1	0	0	0	3122	1232	43	5	666	5	CDHR5	11	618676	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		618676	134387840	390	120781											
CEND1	51286	broad.mit.edu	37	chr11	788350	788350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggggctggcttcaggttgCtgtggttgttgagaagggca	19	5	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:788350C>A	uc001lrh.1	-	2	406	c.227G>T	c.(226-228)AGC>ATC	p.S76I		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	76	Cytoplasmic (Potential).					integral to membrane					0		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;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)		CTTCAGGTTGCTGTGGTTGTT	0.697													A	788350	C	A	788350	3	1	238	1	0	0	0	0	1	0	0	0	3225	797	28	5	226	5	CEND1	11	788350	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	169674	788350	134218166	391	120782											
LSP1	4046	broad.mit.edu	37	chr11	1908026	1908026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccagcatggctgtggCcagtaccaagagtcggtggg	16	11	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:1908026C>T	uc001lui.2	+	8	957	c.782C>T	c.(781-783)GCC>GTC	p.A261V	LSP1_uc001luj.2_Missense_Mutation_p.A389V|LSP1_uc001luk.2_Missense_Mutation_p.A199V|LSP1_uc001lul.2_Missense_Mutation_p.A199V|LSP1_uc001lum.2_Missense_Mutation_p.A199V	NM_002339	NP_002330	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 1	261					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		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;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATGGCTGTGGCCAGTACCAAG	0.632													T	1908026	C	T	1908026	3	4	238	1	0	0	0	0	1	0	0	0	9063	739	26	2	812	2	LSP1	11	1908026	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1119676	1908026	133098490	392	120783											
OR52D1	390066	broad.mit.edu	37	chr11	5510803	5510803	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgtgctggtgcctccTgtactcaatcctattctcta	6	13	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:5510803T>A	uc010qzg.1	+	1	867	c.867T>A	c.(865-867)CCT>CCA	p.P289P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		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)		TGGTGCCTCCTGTACTCAATC	0.493													A	5510803	T	A	5510803	2	1	238	1	0	0	0	0	0	0	0	1	11114	1567	55	5		5	OR52D1	11	5510803	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3602777	5510803	129495713	393	120784											
RBMXL2	27288	broad.mit.edu	37	chr11	7111134	7111134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctacagcgaccgagaCggctacggaggtcgcgaccg	16	12	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:7111134C>T	uc001mfc.2	+	1	970	c.783C>T	c.(781-783)GAC>GAT	p.D261D		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	261	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGACCGAGACGGCTACGGAG	0.667													T	7111134	C	T	7111134	2	4	238	1	0	0	0	0	0	0	0	1	13154	535	19	1		1	RBMXL2	11	7111134	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1600331	7111134	127895382	394	120785											
SCUBE2	57758	broad.mit.edu	37	chr11	9090969	9090969	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaccaggcctgcactcacaGgcgacgctgccccttggggc	12	16	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:9090969G>T	uc001mhh.1	-	5	671	c.591C>A	c.(589-591)GCC>GCA	p.A197A	SCUBE2_uc001mhi.1_Silent_p.A197A|SCUBE2_uc001mhj.1_Silent_p.A197A	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	197	EGF-like 4 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGCACTCACAGGCGACGCTGC	0.567													T	9090969	G	T	9090969	2	4	238	1	0	0	0	0	0	0	0	1	13945	987	35	5		5	SCUBE2	11	9090969	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1979835	9090969	125915547	395	120786											
SBF2	81846	broad.mit.edu	37	chr11	9838486	9838486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggaggccgagtgatcCttgcctgccagccgggcgcc	15	14	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:9838486C>A	uc001mib.2	-	29	4017	c.3879G>T	c.(3877-3879)AAG>AAT	p.K1293N	SBF2_uc001mid.2_Translation_Start_Site	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1293	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCGAGTGATCCTTGCCTGCCA	0.512													A	9838486	C	A	9838486	3	1	238	1	0	0	0	0	1	0	0	0	13859	680	24	5	1718	5	SBF2	11	9838486	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	747517	9838486	125168030	396	120787											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077802	19077802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggagccagagcacaaAcccgtttcctaccagcccga	9	17	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:19077802A>C	uc001mph.2	-	2	236	c.148T>G	c.(148-150)TTT>GTT	p.F50V		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	50	Helical; Name=1; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CAGAGCACAAACCCGTTTCCT	0.582													C	19077802	A	C	19077802	3	2	238	1	0	0	0	0	1	0	0	0	9767	43	2	5	848	5	MRGPRX2	11	19077802	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	9239316	19077802	115928714	397	120788											
SLC6A5	9152	broad.mit.edu	37	chr11	20648274	20648274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgtacttcacggccacGttcccgtatgtcgtactcgt	11	12	1	0	rs148416271		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:20648274G>A	uc001mqd.2	+	8	1554	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T	SLC6A5_uc009yic.2_Silent_p.T192T	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	427	Helical; Name=5; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	TCACGGCCACGTTCCCGTATG	0.577													A	20648274	G	A	20648274	2	1	238	1	0	0	0	0	0	0	0	1	14687	1132	40	1		1	SLC6A5	11	20648274	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1570472	20648274	114358242	398	120789											
ANO3	63982	broad.mit.edu	37	chr11	26681879	26681879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaaagggtctacatgaccGaatacgacgagagaagtact	10	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:26681879G>A	uc001mqt.3	+	27	2979	c.2834G>A	c.(2833-2835)CGA>CAA	p.R945Q	ANO3_uc010rdr.1_Missense_Mutation_p.R929Q|ANO3_uc010rds.1_Missense_Mutation_p.R784Q|ANO3_uc010rdt.1_Missense_Mutation_p.R799Q	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	945	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTACATGACCGAATACGACGA	0.408													A	26681879	G	A	26681879	3	1	238	1	0	0	0	0	1	0	0	0	698	1058	37	1	2940	1	ANO3	11	26681879	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	6033605	26681879	108324637	399	120790											
PAX6	5080	broad.mit.edu	37	chr11	31822286	31822286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggataccaaccagggCgggtgccccagcttccggtc	12	17	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:31822286C>T	uc001mtd.3	-	6	1366	c.476G>A	c.(475-477)CGC>CAC	p.R159H	PAX6_uc001mte.3_Missense_Mutation_p.R159H|PAX6_uc001mtg.3_Missense_Mutation_p.R173H|PAX6_uc001mtf.3_Missense_Mutation_p.R159H|PAX6_uc001mth.3_Missense_Mutation_p.R159H|PAX6_uc009yjr.2_Missense_Mutation_p.R159H	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	159	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CCAACCAGGGCGGGTGCCCCA	0.567									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	31822286	C	T	31822286	3	4	238	1	0	0	0	0	1	0	0	0	11483	768	27	1	820	1	PAX6	11	31822286	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5140407	31822286	103184230	400	120791											
CKAP5	9793	broad.mit.edu	37	chr11	46792495	46792495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggtctgtaggggtggaaCgaagagtaggtagtttctca	15	4	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:46792495C>T	uc001ndi.1	-	25	3139	c.3029G>A	c.(3028-3030)CGT>CAT	p.R1010H	CKAP5_uc009ylg.1_Missense_Mutation_p.R896H|CKAP5_uc001ndj.1_Missense_Mutation_p.R1010H|CKAP5_uc001ndh.1_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1010					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|protein binding			ovary(1)|skin(1)	2						AGGGGTGGAACGAAGAGTAGG	0.448													T	46792495	C	T	46792495	3	4	238	1	0	0	0	0	1	0	0	0	3445	536	19	1	3149	1	CKAP5	11	46792495	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	14970209	46792495	88214021	401	120792											
MYBPC3	4607	broad.mit.edu	37	chr11	47364468	47364468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtcctccaaggggcgcGtgatgagcacagggggctct	17	11	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:47364468G>A	uc001nfa.3	-	15	1425	c.1370C>T	c.(1369-1371)ACG>ATG	p.T457M	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	456	Ig-like C2-type 3.				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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CAAGGGGCGCGTGATGAGCAC	0.627													A	47364468	G	A	47364468	3	1	238	1	0	0	0	0	1	0	0	0	10013	1145	40	1	2530	1	MYBPC3	11	47364468	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	571973	47364468	87642048	402	120793											
SLC39A13	91252	broad.mit.edu	37	chr11	47431938	47431938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatggggaccatgctgcGctcagaaggtaggtgactct	15	8	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:47431938G>A	uc009ylq.2	+	2	464	c.293G>A	c.(292-294)CGC>CAC	p.R98H	SLC39A13_uc001nfd.2_Missense_Mutation_p.R98H|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Missense_Mutation_p.R98H|SLC39A13_uc001nfg.3_Missense_Mutation_p.R98H	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter),	98	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				Lung(87;0.0936)		ACCATGCTGCGCTCAGAAGGT	0.617													A	47431938	G	A	47431938	3	1	238	1	0	0	0	0	1	0	0	0	14616	1087	38	1	295	1	SLC39A13	11	47431938	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	67470	47431938	87574578	403	120794											
C1QTNF4	114900	broad.mit.edu	37	chr11	47611586	47611586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcgacgcgccgtcgtcGtaaatcatggcctgcacctc	11	17	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:47611586G>A	uc001ngc.2	-	2	1044	c.777C>T	c.(775-777)TAC>TAT	p.Y259Y		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	259	C1q 2.					extracellular region					0						CGCCGTCGTCGTAAATCATGG	0.667													A	47611586	G	A	47611586	2	1	238	1	0	0	0	0	0	0	0	1	1965	1140	40	1		1	C1QTNF4	11	47611586	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	179648	47611586	87394930	404	120795											
PTPRJ	5795	broad.mit.edu	37	chr11	48177365	48177365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcacagatgatatttcccGtgtcaaactttcggtccaga	8	10	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:48177365G>A	uc001ngp.3	+	20	3597	c.3242G>A	c.(3241-3243)CGT>CAT	p.R1081H		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1081	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				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)|kidney(3)|ovary(1)|skin(1)	8						GATATTTCCCGTGTCAAACTT	0.393													A	48177365	G	A	48177365	3	1	238	1	0	0	0	0	1	0	0	0	12804	1145	40	1	3329	1	PTPRJ	11	48177365	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	565779	48177365	86829151	405	120796											
OR4C16	219428	broad.mit.edu	37	chr11	55340006	55340006	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcactacatgaccatcataAgccagtgggtctgtggtgtt	11	9	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:55340006A>T	uc010rih.1	+	1	403	c.403A>T	c.(403-405)AGC>TGC	p.S135C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GACCATCATAAGCCAGTGGGT	0.507													T	55340006	A	T	55340006	3	4	238	1	0	0	0	0	1	0	0	0	11049	72	3	5	405	5	OR4C16	11	55340006	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	7162641	55340006	79666510	406	120797											
OR4C6	219432	broad.mit.edu	37	chr11	55433006	55433006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcctatgaccgctacGtggccatctgtaagcccctg	11	13	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:55433006G>A	uc001nht.3	+	3	629	c.364G>A	c.(364-366)GTG>ATG	p.V122M	OR4C6_uc010rik.1_Missense_Mutation_p.V122M	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGACCGCTACGTGGCCATCTG	0.547													A	55433006	G	A	55433006	3	1	238	1	0	0	0	0	1	0	0	0	11052	1145	40	1	366	1	OR4C6	11	55433006	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	93000	55433006	79573510	407	120798											
OR5D13	390142	broad.mit.edu	37	chr11	55541274	55541274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcatgttagcagcgatgGcttatgaccgttttgtggca	11	8	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:55541274G>A	uc010ril.1	+	1	361	c.361G>A	c.(361-363)GCT>ACT	p.A121T		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	121	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				AGCAGCGATGGCTTATGACCG	0.438													A	55541274	G	A	55541274	3	1	238	1	0	0	0	0	1	0	0	0	11154	1203	42	2	363	2	OR5D13	11	55541274	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	108268	55541274	79465242	408	120799											
FEN1	2237	broad.mit.edu	37	chr11	61563792	61563792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcagttctctgaggagcGaatccgcagtggggtcaaga	14	8	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:61563792G>A	uc001nsg.2	+	2	1331	c.959G>A	c.(958-960)CGA>CAA	p.R320Q		NM_004111	NP_004102	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	320					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			ovary(1)	1						TCTGAGGAGCGAATCCGCAGT	0.557								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	61563792	G	A	61563792	3	1	238	1	0	0	0	0	1	0	0	0	5812	1058	37	1	961	1	FEN1	11	61563792	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	6022518	61563792	73442724	409	120800											
GANAB	23193	broad.mit.edu	37	chr11	62397116	62397116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaaggggcgttccatgCccccagagcgctgtctcagc	13	14	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:62397116C>T	uc001nub.2	-	15	1811	c.1778G>A	c.(1777-1779)GGC>GAC	p.G593D	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.G615D|GANAB_uc001nuc.2_Missense_Mutation_p.G496D|GANAB_uc010rma.1_Missense_Mutation_p.G501D|GANAB_uc010rmb.1_Missense_Mutation_p.G479D	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	593					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			ovary(3)|central_nervous_system(1)|skin(1)	5						GCGTTCCATGCCCCCAGAGCG	0.592													T	62397116	C	T	62397116	3	4	238	1	0	0	0	0	1	0	0	0	6233	739	26	2	1096	2	GANAB	11	62397116	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	833324	62397116	72609400	410	120801											
INTS5	80789	broad.mit.edu	37	chr11	62416160	62416160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagcggggaggtgggggCgggcctagcaccccttcccc	16	15	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:62416160C>T	uc001nud.2	-	2	1445	c.1392G>A	c.(1390-1392)CCG>CCA	p.P464P	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	464					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						GAGGTGGGGGCGGGCCTAGCA	0.587													T	62416160	C	T	62416160	2	4	238	1	0	0	0	0	0	0	0	1	7781	755	27	1		1	INTS5	11	62416160	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	19044	62416160	72590356	411	120802											
NXF1	10482	broad.mit.edu	37	chr11	62569046	62569046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccatacctgggtctgaacGgaggcctttgaggtcaaggg	14	9	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:62569046G>A	uc001nvf.1	-	7	833	c.697C>T	c.(697-699)CGT>TGT	p.R233C	NXF1_uc001nvg.1_Missense_Mutation_p.R233C|NXF1_uc009yog.1_Missense_Mutation_p.R276C|NXF1_uc010rmh.1_Missense_Mutation_p.R96C	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	233	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GGGTCTGAACGGAGGCCTTTG	0.478													A	62569046	G	A	62569046	3	1	238	1	0	0	0	0	1	0	0	0	10782	1116	39	1	1277	1	NXF1	11	62569046	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	152886	62569046	72437470	412	120803											
EHBP1L1	254102	broad.mit.edu	37	chr11	65357965	65357965	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctgtccaatgcaggTgccaacaagctgcaggagga	12	12	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:65357965T>C	uc001oeo.3	+	16	4450	c.4185T>C	c.(4183-4185)GGT>GGC	p.G1395G		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	1395	Potential.									central_nervous_system(1)	1						CCAATGCAGGTGCCAACAAGC	0.627													C	65357965	T	C	65357965	2	2	238	1	0	0	0	0	0	0	0	1	4976	1710	59	3		3	EHBP1L1	11	65357965	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2788919	65357965	69648551	413	120804											
NDUFV1	4723	broad.mit.edu	37	chr11	67377028	67377028	+	Frame_Shift_Del	DEL	G	G	-													ctgctggaaggctgcctggtGgggggccgggccatgggcgc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:67377027_67377027TG>T	uc001omj.2	+	3	584	c.431_431TG>T	c.(430-432)gtgfs	p.V144fs	NDUFV1_uc010rpv.1_Frame_Shift_Del_p.V43fs|NDUFV1_uc001omk.4_Frame_Shift_Del_p.V135fs|NDUFV1_uc001oml.2_Frame_Shift_Del_p.V137fs|NDUFV1_uc009yrz.1_Frame_Shift_Del_p.V43fs|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGCTGCCTGGTGGGGGGCCGG	0.607													-	67377028	G	-	67377028	7	5	238	1	0	1	0	1	0	0	0	0	10299	1335	47	0	446	0	NDUFV1	11	67377028	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	2019063	67377028	67629488	414	120805											
FGF19	9965	broad.mit.edu	37	chr11	69514175	69514175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctctgggaccatgggcAgcatgggcaggaaatgagag	16	9	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:69514175A>G	uc001opf.2	-	3	969	c.506T>C	c.(505-507)CTG>CCG	p.L169P		NM_005117	NP_005108	O95750	FGF19_HUMAN	fibroblast growth factor 19 precursor	169					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			skin(1)	1	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)			GACCATGGGCAGCATGGGCAG	0.587													G	69514175	A	G	69514175	3	3	238	1	0	0	0	0	1	0	0	0	5847	188	7	3	148	3	FGF19	11	69514175	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	2137147	69514175	65492341	415	120806											
NUMA1	4926	broad.mit.edu	37	chr11	71726491	71726491	+	Frame_Shift_Del	DEL	T	T	-													accctttctttctcagttgcTttttgctgctcagaccgcag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:71726490_71726490CT>C	uc001orl.1	-	14	2231	c.2059_2059AG>G	c.(2059-2061)gcafs	p.A687fs	NUMA1_uc009ysw.1_Frame_Shift_Del_p.A250fs|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Frame_Shift_Del_p.A687fs|NUMA1_uc001orn.2_Frame_Shift_Del_p.A250fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.A687fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.A687fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	687					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						TTCTCAGTTGCTTTTTGCTGC	0.587			T	RARA	APL								-	71726491	T	-	71726491	7	5	238	1	0	1	0	1	0	0	0	0	10750	1606	56	0	4341	0	NUMA1	11	71726491	Frame_Shift_Del	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	2212316	71726491	63280025	416	120807											
INPPL1	3636	broad.mit.edu	37	chr11	71946233	71946233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcaagtccatggatgGctatgaatcctatggtgagg	12	8	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:71946233G>A	uc001osf.2	+	22	2636	c.2489G>A	c.(2488-2490)GGC>GAC	p.G830D	INPPL1_uc001osg.2_Missense_Mutation_p.G588D	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	830					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TCCATGGATGGCTATGAATCC	0.547													A	71946233	G	A	71946233	3	1	238	1	0	0	0	0	1	0	0	0	7761	1203	42	2	2575	2	INPPL1	11	71946233	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	219742	71946233	63060283	417	120808											
MOGAT2	80168	broad.mit.edu	37	chr11	75438523	75438523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctctcggaactacattgCgggcttccacccccatggag	9	17	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:75438523C>T	uc010rru.1	+	3	314	c.314C>T	c.(313-315)GCG>GTG	p.A105V	MOGAT2_uc001oww.1_Missense_Mutation_p.A105V|MOGAT2_uc010rrv.1_Missense_Mutation_p.A23V	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	105	Helical; (Potential).				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					AACTACATTGCGGGCTTCCAC	0.502													T	75438523	C	T	75438523	3	4	238	1	0	0	0	0	1	0	0	0	9695	768	27	1	324	1	MOGAT2	11	75438523	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3492290	75438523	59567993	418	120809											
CAPN5	726	broad.mit.edu	37	chr11	76826541	76826541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgcgcctgggccacgGcctactggccttcttcaagt	12	14	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:76826541G>A	uc001oxx.2	+	6	985	c.800G>A	c.(799-801)GGC>GAC	p.G267D	CAPN5_uc009yup.2_Missense_Mutation_p.G307D|CAPN5_uc009yuq.2_Missense_Mutation_p.G303D|CAPN5_uc001oxy.2_Missense_Mutation_p.G307D	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	267	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CTGGGCCACGGCCTACTGGCC	0.657													A	76826541	G	A	76826541	3	1	238	1	0	0	0	0	1	0	0	0	2629	1203	42	2	818	2	CAPN5	11	76826541	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1388018	76826541	58179975	419	120810											
TYR	7299	broad.mit.edu	37	chr11	88961040	88961040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcctctcaaagcagcatGcacaatgccttgcacatcta	7	13	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:88961040G>A	uc001pcs.2	+	3	1168	c.1086G>A	c.(1084-1086)ATG>ATA	p.M362I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	362	Lumenal, melanosome (Potential).				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			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAAGCAGCATGCACAATGCCT	0.393									Oculocutaneous_Albinism				A	88961040	G	A	88961040	3	1	238	1	0	0	0	0	1	0	0	0	16810	1319	46	2	1096	2	TYR	11	88961040	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	12134499	88961040	46045476	420	120811											
TRPC6	7225	broad.mit.edu	37	chr11	101375313	101375313	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattctggcccatgtaatcCacacagttaacgttgagtga	9	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:101375313C>A	uc001pgk.3	-	2	812	c.387G>T	c.(385-387)GTG>GTT	p.V129V	TRPC6_uc009ywy.2_Silent_p.V129V|TRPC6_uc009ywz.1_Silent_p.V129V	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	129	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCATGTAATCCACACAGTTAA	0.463													A	101375313	C	A	101375313	2	1	238	1	0	0	0	0	0	0	0	1	16580	581	21	5		5	TRPC6	11	101375313	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	12414273	101375313	33631203	421	120812											
PDGFD	80310	broad.mit.edu	37	chr11	104034581	104034581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgatggatgcgctctgCggggttgcagaagtgtcccg	16	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:104034581C>T	uc001phq.2	-	1	447	c.75G>A	c.(73-75)CCG>CCA	p.P25P	PDGFD_uc001php.2_Silent_p.P25P	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	25					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		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)		ATGCGCTCTGCGGGGTTGCAG	0.458											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	104034581	C	T	104034581	2	4	238	1	0	0	0	0	0	0	0	1	11660	755	27	1		1	PDGFD	11	104034581	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2659268	104034581	30971935	422	120813											
GRIA4	2893	broad.mit.edu	37	chr11	105732777	105732777	+	Frame_Shift_Del	DEL	A	A	-													gatactccaagctattatggAaaaagcaggacaaaatggtt							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:105732776_105732776GA>G	uc001pix.2	+	4	960	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	GRIA4_uc001piu.1_Frame_Shift_Del_p.E172fs|GRIA4_uc001piw.2_Frame_Shift_Del_p.E172fs|GRIA4_uc001piv.3_Frame_Shift_Del_p.E172fs|GRIA4_uc009yxk.1_Frame_Shift_Del_p.E172fs	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	172					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)	AGCTATTATGGAAAAAGCAGG	0.373													-	105732777	A	-	105732777	7	5	238	1	0	1	0	1	0	0	0	0	6770	246	9	0	529	0	GRIA4	11	105732777	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	1698196	105732777	29273739	423	120814											
EXPH5	23086	broad.mit.edu	37	chr11	108383972	108383972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcattaaaaccaaacccGttgctcttggctgagtcctg	9	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:108383972G>A	uc001pkk.2	-	6	2373	c.2262C>T	c.(2260-2262)AAC>AAT	p.N754N	EXPH5_uc010rvy.1_Silent_p.N566N|EXPH5_uc010rvz.1_Silent_p.N598N|EXPH5_uc010rwa.1_Silent_p.N678N	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	754					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		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)		AACCAAACCCGTTGCTCTTGG	0.413													A	108383972	G	A	108383972	2	1	238	1	0	0	0	0	0	0	0	1	5322	1136	40	1		1	EXPH5	11	108383972	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2651195	108383972	26622544	424	120815											
LAYN	143903	broad.mit.edu	37	chr11	111425294	111425294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctactacagagaaaccaGcagttccttctagagaagct	7	10	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:111425294G>A	uc001plr.1	+	5	910	c.574G>A	c.(574-576)GCA>ACA	p.A192T	LAYN_uc001plp.1_Missense_Mutation_p.A184T|LAYN_uc001plq.1_Missense_Mutation_p.A192T|LAYN_uc001pls.1_Missense_Mutation_p.A184T|LAYN_uc010rwg.1_Missense_Mutation_p.A39T|LAYN_uc010rwh.1_Missense_Mutation_p.A40T	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	192	Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		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)		AGAGAAACCAGCAGTTCCTTC	0.393													A	111425294	G	A	111425294	3	1	238	1	0	0	0	0	1	0	0	0	8649	971	34	2	564	2	LAYN	11	111425294	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3041322	111425294	23581222	425	120816											
PPP2R1B	5519	broad.mit.edu	37	chr11	111623020	111623020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatcacttcatttacacaatCcaaattggagatgatattca	4	8	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:111623020C>A	uc001plx.1	-	10	1285	c.1201G>T	c.(1201-1203)GAT>TAT	p.D401Y	PPP2R1B_uc001plw.1_Missense_Mutation_p.D401Y|PPP2R1B_uc010rwi.1_Missense_Mutation_p.D337Y|PPP2R1B_uc010rwj.1_Missense_Mutation_p.D240Y|PPP2R1B_uc010rwk.1_Missense_Mutation_p.D356Y|PPP2R1B_uc010rwl.1_Missense_Mutation_p.D274Y	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	401	HEAT 10.						protein binding				0		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)		TTTACACAATCCAAATTGGAG	0.473													A	111623020	C	A	111623020	3	1	238	1	0	0	0	0	1	0	0	0	12383	855	30	5	851	5	PPP2R1B	11	111623020	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	197726	111623020	23383496	426	120817											
USP28	57646	broad.mit.edu	37	chr11	113711447	113711447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcgttttctctttgagCgtttagtttctgcagaggtt	10	8	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:113711447C>T	uc001poh.2	-	5	440	c.407G>A	c.(406-408)CGC>CAC	p.R136H	USP28_uc010rwy.1_Missense_Mutation_p.R11H|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R136H|USP28_uc010rwz.1_Missense_Mutation_p.R136H	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	136					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			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		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)		TCTCTTTGAGCGTTTAGTTTC	0.428													T	113711447	C	T	113711447	3	4	238	1	0	0	0	0	1	0	0	0	17055	768	27	1	2910	1	USP28	11	113711447	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2088427	113711447	21295069	427	120818											
MPZL2	10205	broad.mit.edu	37	chr11	118133655	118133655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctacttacaaactgctcAggtcccccgtctagaggacg	8	13	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:118133655A>G	uc001psn.2	-	2	357	c.216T>C	c.(214-216)CCT>CCC	p.P72P	MPZL2_uc001pso.2_Silent_p.P72P|MPZL2_uc001psp.1_Silent_p.P72P	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	72	Extracellular (Potential).|Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	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;3.04e-05)		CAAACTGCTCAGGTCCCCCGT	0.438													G	118133655	A	G	118133655	2	3	238	1	0	0	0	0	0	0	0	1	9750	175	7	3		3	MPZL2	11	118133655	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	4422208	118133655	16872861	428	120819											
BCL9L	283149	broad.mit.edu	37	chr11	118773299	118773299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgcccatttccaggggCggctgcctcccccagcaggg	14	17	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:118773299C>T	uc001pug.2	-	6	2118	c.1153G>A	c.(1153-1155)GCC>ACC	p.A385T	BCL9L_uc009zal.2_Missense_Mutation_p.A380T	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	385	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				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			ovary(1)|pancreas(1)	2	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)		TTTCCAGGGGCGGCTGCCTCC	0.677													T	118773299	C	T	118773299	3	4	238	1	0	0	0	0	1	0	0	0	1382	768	27	1	3358	1	BCL9L	11	118773299	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	639644	118773299	16233217	429	120820											
KIRREL3	84623	broad.mit.edu	37	chr11	126318959	126318959	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggcgttggtcacctcAcaggagacgggctctgagaa	14	12	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr11:126318959A>G	uc001qea.2	-	8	1303	c.942T>C	c.(940-942)TGT>TGC	p.C314C	KIRREL3_uc001qeb.2_Silent_p.C314C|KIRREL3_uc001qec.1_Silent_p.C314C	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	314	Extracellular (Potential).|Ig-like C2-type 3.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	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)		TGGTCACCTCACAGGAGACGG	0.612													G	126318959	A	G	126318959	2	3	238	1	0	0	0	0	0	0	0	1	8326	157	6	3		3	KIRREL3	11	126318959	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	7545660	126318959	8687557	430	120821											
C12orf5	57103	broad.mit.edu	37	chr12	4446292	4446292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataatgtgaagtttactcAtgctttctccagtgatctca	7	8	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:4446292A>G	uc001qmp.2	+	3	237	c.158A>G	c.(157-159)CAT>CGT	p.H53R		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	53						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAGTTTACTCATGCTTTCTCC	0.269													G	4446292	A	G	4446292	3	3	238	1	0	0	0	0	1	0	0	0	1694	217	8	3	168	3	C12orf5	12	4446292	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08		4446292	129405603	431	120822											
KCNA5	3741	broad.mit.edu	37	chr12	5154130	5154130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgcttggagaccctgCctgagttcagggatgaacgt	12	11	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:5154130C>T	uc001qni.2	+	1	1046	c.817C>T	c.(817-819)CCT>TCT	p.P273S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	273						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GGAGACCCTGCCTGAGTTCAG	0.672													T	5154130	C	T	5154130	3	4	238	1	0	0	0	0	1	0	0	0	8006	739	26	2	819	2	KCNA5	12	5154130	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	707838	5154130	128697765	432	120823											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	238	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	1769913	6924043	126927852	433	120824											
GPR162	27239	broad.mit.edu	37	chr12	6933431	6933431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggatggtgcgctggcccGtcaactaccgcctcagcaac	12	14	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:6933431G>A	uc001qqw.1	+	2	902	c.367G>A	c.(367-369)GTC>ATC	p.V123I	GPR162_uc010sfn.1_Missense_Mutation_p.V123I|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	123	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCGCTGGCCCGTCAACTACCG	0.612													A	6933431	G	A	6933431	3	1	238	1	0	0	0	0	1	0	0	0	6666	1145	40	1	388	1	GPR162	12	6933431	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	9388	6933431	126918464	434	120825											
CLSTN3	9746	broad.mit.edu	37	chr12	7290621	7290621	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctactggcccctgctTgagagtgcccgcccagtcaa	9	16	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:7290621T>C	uc001qsr.2	+	8	1559	c.1281T>C	c.(1279-1281)CTT>CTC	p.L427L	CLSTN3_uc001qss.2_Silent_p.L439L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	427	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GGCCCCTGCTTGAGAGTGCCC	0.582													C	7290621	T	C	7290621	2	2	238	1	0	0	0	0	0	0	0	1	3563	1799	63	3		3	CLSTN3	12	7290621	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	357190	7290621	126561274	435	120826											
ABCC9	10060	broad.mit.edu	37	chr12	22065846	22065846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctgggtttcattcacaCgctgaactattccagaaata	6	10	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:22065846C>T	uc001rfi.1	-	6	991	c.971G>A	c.(970-972)CGT>CAT	p.R324H	ABCC9_uc001rfh.2_Missense_Mutation_p.R324H|ABCC9_uc001rfj.1_Missense_Mutation_p.R324H	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	324	Extracellular (Potential).|ABC transmembrane type-1 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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCATTCACACGCTGAACTAT	0.393													T	22065846	C	T	22065846	3	4	238	1	0	0	0	0	1	0	0	0	59	536	19	1	3952	1	ABCC9	12	22065846	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	14775225	22065846	111786049	436	120827											
TMTC1	83857	broad.mit.edu	37	chr12	29709910	29709910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccaaggttgttgagcGcacttgcatggcgtggatac	14	8	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:29709910G>A	uc001rjb.2	-	10	1706	c.1232C>T	c.(1231-1233)GCG>GTG	p.A411V	TMTC1_uc001riz.2_Missense_Mutation_p.A168V|TMTC1_uc001rja.2_Missense_Mutation_p.A255V|TMTC1_uc001rjc.1_Missense_Mutation_p.A473V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	519	TPR 2.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTGTTGAGCGCACTTGCATG	0.463													A	29709910	G	A	29709910	3	1	238	1	0	0	0	0	1	0	0	0	16257	1087	38	1	1128	1	TMTC1	12	29709910	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	7644064	29709910	104141985	437	120828											
SYT10	341359	broad.mit.edu	37	chr12	33532788	33532788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaatgggtgccagtgCgttattggttttcgatgata	12	7	0	1	rs138986207	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:33532788C>T	uc001rll.1	-	6	1776	c.1479G>A	c.(1477-1479)ACG>ACA	p.T493T	SYT10_uc009zju.1_Silent_p.T303T	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	493	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGTGCCAGTGCGTTATTGGTT	0.438													T	33532788	C	T	33532788	2	4	238	1	0	0	0	0	0	0	0	1	15463	755	27	1		1	SYT10	12	33532788	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3822878	33532788	100319107	438	120829											
TWF1	5756	broad.mit.edu	37	chr12	44193276	44193276	+	Frame_Shift_Del	DEL	T	T	-													gaagattgtgacagcaagtaTtttttatatccatgtaatga							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:44193276delT	uc001rob.2	-	5	538	c.510delA	c.(508-510)AAAfs	p.K170fs	TWF1_uc001rnz.2_Frame_Shift_Del_p.K38fs|TWF1_uc001roa.2_Frame_Shift_Del_p.K170fs|TWF1_uc001roc.2_Frame_Shift_Del_p.K38fs	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	136	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		ACAGCAAGTATTTTTTATATC	0.353													-	44193276	T	-	44193276	7	5	238	1	0	1	0	1	0	0	0	0	16778	1490	52	0	664	0	TWF1	12	44193276	Frame_Shift_Del	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	10660488	44193276	89658619	439	120830											
SFRS2IP	9169	broad.mit.edu	37	chr12	46316903	46316903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaaactggtgtactcAtgttattacttacatgagaa	8	7	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:46316903A>G	uc001rox.2	-	13	4228	c.3941T>C	c.(3940-3942)ATG>ACG	p.M1314T	SFRS2IP_uc001row.2_Missense_Mutation_p.M999T	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1314					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TGGTGTACTCATGTTATTACT	0.403													G	46316903	A	G	46316903	3	3	238	1	0	0	0	0	1	0	0	0	14177	217	8	3	462	3	SFRS2IP	12	46316903	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	2123627	46316903	87534992	440	120831											
MLL2	8085	broad.mit.edu	37	chr12	49445526	49445527	+	Frame_Shift_Ins	INS	-	-	G													taggcgcgatacctcaggtgINSggggggacataggtgattct							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:49445525_49445526T>TG	uc001rta.4	-	9	1940_1941	c.1940_1941A>CA	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACAT	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49445527	-	G	49445526	7	5	238	1	0	1	1	0	0	0	0	0	9621	1348	47	0	14853	0	MLL2	12	49445526	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	3128623	49445526	84406369	441	120832											
LMBR1L	55716	broad.mit.edu	37	chr12	49497522	49497522	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaatggctgatgccacCcacaccatacctagcaccag	6	17	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:49497522C>T	uc001rth.3	-	6	852	c.510G>A	c.(508-510)TGG>TGA	p.W170*	LMBR1L_uc001rtg.3_Nonsense_Mutation_p.W165*|LMBR1L_uc001rti.3_Nonsense_Mutation_p.W170*|LMBR1L_uc001rtj.1_Nonsense_Mutation_p.W14*|LMBR1L_uc009zld.1_Nonsense_Mutation_p.W43*|LMBR1L_uc010smf.1_RNA	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	170	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						CTGATGCCACCCACACCATAC	0.567													T	49497522	C	T	49497522	4	4	238	1	0	0	0	0	0	1	0	0	8841	624	22	4	1007	4	LMBR1L	12	49497522	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	51996	49497522	84354373	442	120833											
FMNL3	91010	broad.mit.edu	37	chr12	50048744	50048745	+	Frame_Shift_Ins	INS	-	-	A													aatactccatcagcttctcaINSaagcggtgcagctccttgca							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:50048743_50048744C>CA	uc001ruv.1	-	9	1143_1144	c.909_910G>TG	c.(907-912)tttgagfs	p.F303fs	FMNL3_uc001ruw.1_Frame_Shift_Ins_p.F252fs|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Frame_Shift_Ins_p.F153fs	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	303	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ATCAGCTTCTCAAAGCGGTGCA	0.53													A	50048745	-	A	50048744	7	5	238	1	0	1	1	0	0	0	0	0	5953	127	5	0	2242	0	FMNL3	12	50048744	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	551222	50048744	83803151	443	120834											
GPD1	2819	broad.mit.edu	37	chr12	50501571	50501571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggctgaggcctttgcGcgtacaggaaaggtgggccc	16	9	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:50501571G>A	uc001rvz.2	+	6	867	c.834G>A	c.(832-834)GCG>GCA	p.A278A	GPD1_uc001rwa.2_Silent_p.A255A	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	278					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	AGGCCTTTGCGCGTACAGGAA	0.607													A	50501571	G	A	50501571	2	1	238	1	0	0	0	0	0	0	0	1	6604	1074	38	1		1	GPD1	12	50501571	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	452827	50501571	83350324	444	120835											
KRT73	319101	broad.mit.edu	37	chr12	53012125	53012125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccacccactgccactggCcacattgaaagagatgctcc	8	16	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:53012125C>T	uc001sas.2	-	1	219	c.184G>A	c.(184-186)GCC>ACC	p.A62T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	62	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCCACTGGCCACATTGAAA	0.637													T	53012125	C	T	53012125	3	4	238	1	0	0	0	0	1	0	0	0	8486	739	26	2	1474	2	KRT73	12	53012125	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2510554	53012125	80839770	445	120836											
KRT4	3851	broad.mit.edu	37	chr12	53207645	53207645	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaccttgtcgtgacccAgccacactcatggagatgct	10	14	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:53207645A>G	uc001saz.2	-	1	691	c.420T>C	c.(418-420)GCT>GCC	p.A140A		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	66						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						GTCGTGACCCAGCCACACTCA	0.587													G	53207645	A	G	53207645	2	3	238	1	0	0	0	0	0	0	0	1	8477	175	7	3		3	KRT4	12	53207645	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	195520	53207645	80644250	446	120837											
KRT79	338785	broad.mit.edu	37	chr12	53216893	53216893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtagtcacgcagcAgccgtgtcaggtcctccttg	12	14	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:53216893A>G	uc001sbb.2	-	7	1307	c.1274T>C	c.(1273-1275)CTG>CCG	p.L425P	KRT79_uc001sba.2_Missense_Mutation_p.L196P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	425	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						GTCACGCAGCAGCCGTGTCAG	0.612													G	53216893	A	G	53216893	3	3	238	1	0	0	0	0	1	0	0	0	8492	188	7	3	345	3	KRT79	12	53216893	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	9248	53216893	80635002	447	120838											
DNAJC14	85406	broad.mit.edu	37	chr12	56216252	56216252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctacacgctggcatccAgcccactctataaacatgag	6	14	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:56216252A>G	uc001shx.1	-	6	2007	c.1803T>C	c.(1801-1803)GCT>GCC	p.A601A	DNAJC14_uc001shu.1_Silent_p.A601A|DNAJC14_uc009zob.1_Silent_p.A601A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	601					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						GCTGGCATCCAGCCCACTCTA	0.483											OREG0021910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	56216252	A	G	56216252	2	3	238	1	0	0	0	0	0	0	0	1	4633	175	7	3		3	DNAJC14	12	56216252	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	2999359	56216252	77635643	448	120839											
ESYT1	23344	broad.mit.edu	37	chr12	56526118	56526118	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcccctctgcccagggTatggcctttcccccactaga	9	17	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:56526118T>C	uc001sjq.2	+	8	1034	c.984_splice	c.e8+2	p.R328_splice	ESYT1_uc001sjr.2_Splice_Site_p.R328_splice	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1							integral to membrane				ovary(4)|skin(1)	5						CTGCCCAGGGTATGGCCTTTC	0.537													C	56526118	T	C	56526118	5	2	238	1	0	0	0	0	0	0	1	0	5264	1652	57	3	1016	3	ESYT1	12	56526118	Splice_Site	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	309866	56526118	77325777	449	120840											
SMARCC2	6601	broad.mit.edu	37	chr12	56559113	56559114	+	Frame_Shift_Ins	INS	-	-	G													acacttaccatggggtccagINSgggggggaacccctggtggg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:56559112_56559113A>AG	uc001skb.3	-	25	3234_3235	c.3128_3129T>CT	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_uc001skd.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_uc001ska.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_uc001skc.3_Frame_Shift_Ins_p.P1073fs|SMARCC2_uc010sqf.2_Frame_Shift_Ins_p.P963fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1043	Pro-rich.				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	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	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)			CATGGGGTCCAGGGGGGGGAAC	0.574													G	56559114	-	G	56559113	7	5	238	1	0	1	1	0	0	0	0	0	14776	1000	35	0	528	0	SMARCC2	12	56559113	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	32995	56559113	77292782	450	120841											
GRIP1	23426	broad.mit.edu	37	chr12	66814538	66814538	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttgatatctgaaatgacGagggggtctcctggttttct	11	7	4	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:66814538G>A	uc001stk.2	-	14	1885	c.1644C>T	c.(1642-1644)CTC>CTT	p.L548L	GRIP1_uc010sta.1_Silent_p.L492L|GRIP1_uc001stj.2_Silent_p.L330L|GRIP1_uc001stl.1_Silent_p.L440L|GRIP1_uc001stm.2_Silent_p.L548L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	600	PDZ 5.				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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTGAAATGACGAGGGGGTCTC	0.383													A	66814538	G	A	66814538	2	1	238	1	0	0	0	0	0	0	0	1	6787	1045	37	1		1	GRIP1	12	66814538	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	10255425	66814538	67037357	451	120842											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100453818	100453818	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctatagaggttgggagatGgaactgtggagacaagatgt	17	3	0	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:100453818G>T	uc001tgq.2	-	13	1782	c.1553C>A	c.(1552-1554)CCA>CAA	p.P518Q	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.P168Q	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	518										ovary(2)	2						GTTGGGAGATGGAACTGTGGA	0.328													T	100453818	G	T	100453818	3	4	238	1	0	0	0	0	1	0	0	0	16966	1348	47	5	2877	5	UHRF1BP1L	12	100453818	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	33639280	100453818	33398077	452	120843											
BTBD11	121551	broad.mit.edu	37	chr12	107712874	107712874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtatggcgggagctgctggCcgcctctagctgactccatg	14	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:107712874C>T	uc001tmk.1	+	1	678	c.157C>T	c.(157-159)CCG>TCG	p.P53S	BTBD11_uc009zut.1_Missense_Mutation_p.P53S|BTBD11_uc001tmj.2_Missense_Mutation_p.P53S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	53						integral to membrane	DNA binding			skin(2)|ovary(1)	3						GAGCTGCTGGCCGCCTCTAGC	0.652													T	107712874	C	T	107712874	3	4	238	1	0	0	0	0	1	0	0	0	1539	739	26	2	159	2	BTBD11	12	107712874	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7259056	107712874	26139021	453	120844											
DAO	1610	broad.mit.edu	37	chr12	109292531	109292531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatatccaggaccacaacAccatttgggaaggctgctgc	9	12	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:109292531A>G	uc001tnr.3	+	9	925	c.772A>G	c.(772-774)ACC>GCC	p.T258A	DAO_uc001tnq.3_Missense_Mutation_p.T192A|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	258					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GGACCACAACACCATTTGGGA	0.507													G	109292531	A	G	109292531	3	3	238	1	0	0	0	0	1	0	0	0	4231	159	6	3	802	3	DAO	12	109292531	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1579657	109292531	24559364	454	120845											
KDM2B	84678	broad.mit.edu	37	chr12	121868159	121868159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcacagacatctcggctaTgaactgctcacagccttcct	6	15	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:121868159T>C	uc001uat.2	-	23	4047	c.3943A>G	c.(3943-3945)ATA>GTA	p.I1315V	KDM2B_uc001uaq.2_Missense_Mutation_p.I755V|KDM2B_uc010szy.1_Missense_Mutation_p.I755V|KDM2B_uc001uar.2_Missense_Mutation_p.I906V|KDM2B_uc001uas.2_Missense_Mutation_p.I1246V|KDM2B_uc001uau.2_3'UTR|RNF34_uc001uam.1_Silent_p.Y462Y|KDM2B_uc001uao.2_Missense_Mutation_p.I563V|KDM2B_uc010szx.1_Missense_Mutation_p.I563V|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1315	LRR 7.				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			ovary(1)|skin(1)	2						ATCTCGGCTATGAACTGCTCA	0.473													C	121868159	T	C	121868159	3	2	238	1	0	0	0	0	1	0	0	0	8125	1464	51	3	123	3	KDM2B	12	121868159	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	12575628	121868159	11983736	455	120846											
NCOR2	9612	broad.mit.edu	37	chr12	124832801	124832802	+	Frame_Shift_Ins	INS	-	-	G													ttgggggcggccgtctcatgINSggggggtcctgagctgcttc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:124832800_124832801T>TG	uc021rga.1	-	28	4042_4043	c.3925_3926A>CA	c.(3925-3927)catfs	p.H1309fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.H1293fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.H1302fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.H1292fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.H1292fs|NCOR2_uc010tba.2_Frame_Shift_Ins_p.H1310fs|NCOR2_uc001ugj.1_Frame_Shift_Ins_p.H1310fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	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|Notch binding|histone deacetylase 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)		GGCCGTCTCATGGGGGGGTCCT	0.629											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	124832802	-	G	124832801	7	5	238	1	0	1	1	0	0	0	0	0	10236	1348	47	0	3716	0	NCOR2	12	124832801	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	2964642	124832801	9019094	456	120847											
ULK1	8408	broad.mit.edu	37	chr12	132401542	132401542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgctccttaaggcggCgtttgggacacaagccccgg	13	13	0	1	rs148705404		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:132401542C>T	uc001uje.2	+	21	2385	c.2117C>T	c.(2116-2118)GCG>GTG	p.A706V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	706					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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		CTTAAGGCGGCGTTTGGGACA	0.592													T	132401542	C	T	132401542	3	4	238	1	0	0	0	0	1	0	0	0	16972	768	27	1	2199	1	ULK1	12	132401542	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7568741	132401542	1450353	457	120848											
POLE	5426	broad.mit.edu	37	chr12	133220551	133220551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccatgttggagcgaggaaGgacccgatttacctggcgag	15	9	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr12:133220551G>T	uc001uks.1	-	33	4206	c.4162C>A	c.(4162-4164)CTT>ATT	p.L1388I	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.L192I|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.L1361I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1388					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		GAGCGAGGAAGGACCCGATTT	0.507								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	133220551	G	T	133220551	3	4	238	1	0	0	0	0	1	0	0	0	12196	1000	35	5	2766	5	POLE	12	133220551	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	819009	133220551	631344	458	120849											
PSPC1	55269	broad.mit.edu	37	chr13	20304416	20304416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttaaagccctcttgctgtCgcctcagttcctcctgttct	7	15	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:20304416C>T	uc001uml.2	-	6	1307	c.1121G>A	c.(1120-1122)CGA>CAA	p.R374Q	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	374	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		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)		CTCTTGCTGTCGCCTCAGTTC	0.368													T	20304416	C	T	20304416	3	4	238	1	0	0	0	0	1	0	0	0	12716	884	31	1	466	1	PSPC1	13	20304416	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		20304416	94865462	459	120850											
EFHA1	221154	broad.mit.edu	37	chr13	22077129	22077129	+	Frame_Shift_Del	DEL	A	A	-													ctttattttcagtgttagtgAaaaaaagtagccactctgca							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:22077128_22077128GA>G	uc001uof.3	-	8	938	c.870_870TC>C	c.(868-870)ttcfs	p.F290fs	EFHA1_uc010tct.2_Frame_Shift_Del_p.F80fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	290							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		CAGTGTTAGTGAAAAAAAGTA	0.323													-	22077129	A	-	22077129	7	5	238	1	0	1	0	1	0	0	0	0	4943	246	9	0	451	0	EFHA1	13	22077129	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	1772713	22077129	93092749	460	120851											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679009	37679009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgtagaaaattctttgTatgcacgtattcaattctgc	8	7	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:37679009T>C	uc001uwm.1	-	1	793	c.385A>G	c.(385-387)ACA>GCA	p.T129A		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	129	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		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)		AAATTCTTTGTATGCACGTAT	0.398													C	37679009	T	C	37679009	3	2	238	1	0	0	0	0	1	0	0	0	3951	1638	57	3	632	3	CSNK1A1L	13	37679009	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	15601880	37679009	77490869	461	120852											
SLITRK5	26050	broad.mit.edu	37	chr13	88328996	88328996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcgatgatccaggaccgCgctttcggggatctcaccaa	10	13	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:88328996C>T	uc001vln.2	+	2	1572	c.1353C>T	c.(1351-1353)CGC>CGT	p.R451R	SLITRK5_uc010tic.1_Silent_p.R210R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	451	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCAGGACCGCGCTTTCGGGG	0.597													T	88328996	C	T	88328996	2	4	238	1	0	0	0	0	0	0	0	1	14746	755	27	1		1	SLITRK5	13	88328996	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	50649987	88328996	26840882	462	120853											
TMTC4	84899	broad.mit.edu	37	chr13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccccgcgcttaccagacGcccgaggttgtagtaacagt	11	14	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:101277794G>A	uc001vou.2	-	14	1934	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMTC4_uc001vot.2_Missense_Mutation_p.R611C|TMTC4_uc010tja.1_Missense_Mutation_p.R481C|TMTC4_uc001vov.1_Missense_Mutation_p.R337C|TMTC4_uc001vow.1_Missense_Mutation_p.R375C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	592	TPR 5.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458													A	101277794	G	A	101277794	3	1	238	1	0	0	0	0	1	0	0	0	16260	1087	38	1	471	1	TMTC4	13	101277794	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	12948798	101277794	13892084	463	120854											
NALCN	259232	broad.mit.edu	37	chr13	101936304	101936304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggcaggctggggcgcGtccctggggcttgttgacat	18	10	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:101936304G>A	uc001vox.1	-	10	1303	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	NALCN_uc001voy.2_Missense_Mutation_p.R87C|NALCN_uc001voz.2_Missense_Mutation_p.R372C|NALCN_uc001vpa.2_Missense_Mutation_p.R372C	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	372	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGGGGCGCGTCCCTGGGGC	0.473													A	101936304	G	A	101936304	3	1	238	1	0	0	0	0	1	0	0	0	10148	1145	40	1	4242	1	NALCN	13	101936304	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	658510	101936304	13233574	464	120855											
NALCN	259232	broad.mit.edu	37	chr13	102047547	102047547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaccttgacaatgcccCggatgtgcatttttgctatc	8	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:102047547C>T	uc001vox.1	-	3	467	c.278G>A	c.(277-279)CGG>CAG	p.R93Q	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R93Q|NALCN_uc001vpa.2_Missense_Mutation_p.R93Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	93	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACAATGCCCCGGATGTGCAT	0.383													T	102047547	C	T	102047547	3	4	238	1	0	0	0	0	1	0	0	0	10148	652	23	1	5106	1	NALCN	13	102047547	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	111243	102047547	13122331	465	120856											
LIG4	3981	broad.mit.edu	37	chr13	108861173	108861173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaaataaacggtgtggCgtcgaaacatactgagagga	12	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:108861173C>T	uc001vqn.2	-	2	2717	c.2444G>A	c.(2443-2445)CGC>CAC	p.R815H	LIG4_uc001vqo.2_Missense_Mutation_p.R815H|LIG4_uc010agg.1_Missense_Mutation_p.R748H|LIG4_uc010agf.2_Missense_Mutation_p.R815H|LIG4_uc001vqp.2_Missense_Mutation_p.R815H	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	815	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				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AACGGTGTGGCGTCGAAACAT	0.418								NHEJ					T	108861173	C	T	108861173	3	4	238	1	0	0	0	0	1	0	0	0	8783	768	27	1	295	1	LIG4	13	108861173	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	6813626	108861173	6308705	466	120857											
FAM70B	348013	broad.mit.edu	37	chr13	114498133	114498133	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcagctggtggcagcgAtcgtgtttatcagttttggc	14	7	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr13:114498133A>T	uc001vuh.2	+	4	292	c.265A>T	c.(265-267)ATC>TTC	p.I89F		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	89	Helical; (Potential).					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GGTGGCAGCGATCGTGTTTAT	0.542													T	114498133	A	T	114498133	3	4	238	1	0	0	0	0	1	0	0	0	5606	333	12	5	279	5	FAM70B	13	114498133	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	5636960	114498133	671745	467	120858											
RABGGTA	5875	broad.mit.edu	37	chr14	24737770	24737770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgctgtccaaatgacgCgaaatgtatgttggggcaac	12	10	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:24737770C>T	uc001wof.2	-	9	1378	c.956G>A	c.(955-957)CGC>CAC	p.R319H	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.R319H|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	319					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		CCAAATGACGCGAAATGTATG	0.537													T	24737770	C	T	24737770	3	4	238	1	0	0	0	0	1	0	0	0	12967	768	27	1	779	1	RABGGTA	14	24737770	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		24737770	82611770	468	120859											
BAZ1A	11177	broad.mit.edu	37	chr14	35231352	35231352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttcttgttgttggccaCgacttgagaaagaagagcta	12	7	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:35231352C>T	uc001wsk.2	-	24	4422	c.3854G>A	c.(3853-3855)CGT>CAT	p.R1285H	BAZ1A_uc001wsl.2_Missense_Mutation_p.R1253H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1285					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		TTGTTGGCCACGACTTGAGAA	0.408													T	35231352	C	T	35231352	3	4	238	1	0	0	0	0	1	0	0	0	1329	536	19	1	832	1	BAZ1A	14	35231352	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	10493582	35231352	72118188	469	120860											
CLEC14A	161198	broad.mit.edu	37	chr14	38724284	38724284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattggccatgttctctgcGgcacggggctggttgcagtg	16	9	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:38724284G>A	uc001wum.1	-	1	1291	c.944C>T	c.(943-945)CCG>CTG	p.P315L		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	315	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617													A	38724284	G	A	38724284	3	1	238	1	0	0	0	0	1	0	0	0	3499	1116	39	1	532	1	CLEC14A	14	38724284	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3492932	38724284	68625256	470	120861											
KLHL28	54813	broad.mit.edu	37	chr14	45414684	45414684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccaaataaaggtcacGgcaaccatatgtttctgcaa	9	10	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:45414684G>A	uc001wvq.2	-	2	694	c.448C>T	c.(448-450)CGT>TGT	p.R150C	KLHL28_uc001wvr.2_Missense_Mutation_p.R150C|KLHL28_uc001wvt.3_Missense_Mutation_p.R150C	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	150										ovary(1)	1						TAAAGGTCACGGCAACCATAT	0.383													A	45414684	G	A	45414684	3	1	238	1	0	0	0	0	1	0	0	0	8382	1116	39	1	1283	1	KLHL28	14	45414684	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	6690400	45414684	61934856	471	120862											
MDGA2	161357	broad.mit.edu	37	chr14	47504254	47504254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcttcccttggtttcacGttaaatccattgtattggct	8	9	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:47504254G>A	uc001wwj.3	-	8	1768	c.1572C>T	c.(1570-1572)AAC>AAT	p.N524N	MDGA2_uc001wwi.3_Silent_p.N295N|MDGA2_uc010ani.2_Silent_p.N84N	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	524	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.G524C(1)		ovary(4)|large_intestine(1)|pancreas(1)	6						TTGGTTTCACGTTAAATCCAT	0.413													A	47504254	G	A	47504254	2	1	238	1	0	0	0	0	0	0	0	1	9407	1136	40	1		1	MDGA2	14	47504254	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2089570	47504254	59845286	472	120863											
ATL1	51062	broad.mit.edu	37	chr14	51087357	51087357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacttgaaaatactgatTccttggctacttagtcccga	6	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:51087357T>G	uc001wyf.3	+	9	1144	c.903T>G	c.(901-903)ATT>ATG	p.I301M	ATL1_uc001wyd.3_Missense_Mutation_p.I301M|ATL1_uc001wye.3_Missense_Mutation_p.I301M	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1 isoform a	301	Cytoplasmic.				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			skin(3)|central_nervous_system(1)	4						AAATACTGATTCCTTGGCTAC	0.388													G	51087357	T	G	51087357	3	3	238	1	0	0	0	0	1	0	0	0	1106	1771	62	5	937	5	ATL1	14	51087357	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3583103	51087357	56262183	473	120864											
SPTB	6710	broad.mit.edu	37	chr14	65262292	65262292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgtaggcagccgtgtcGgtctcgatggcctcatgctt	12	13	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:65262292G>A	uc001xht.2	-	11	1461	c.1407C>T	c.(1405-1407)ACC>ACT	p.T469T	SPTB_uc001xhr.2_Silent_p.T469T|SPTB_uc001xhs.2_Silent_p.T469T|SPTB_uc001xhu.2_Silent_p.T469T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	469	Spectrin 2.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		CAGCCGTGTCGGTCTCGATGG	0.602													A	65262292	G	A	65262292	2	1	238	1	0	0	0	0	0	0	0	1	15117	1103	39	1		1	SPTB	14	65262292	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	14174935	65262292	42087248	474	120865											
ACOT6	641372	broad.mit.edu	37	chr14	74086200	74086200	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacaatcaccaaagtcTtgttccattggaaaaggcgc	9	10	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:74086200T>G	uc001xop.2	+	2	612	c.281T>G	c.(280-282)CTT>CGT	p.L94R		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	94						cytosol	carboxylesterase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CACCAAAGTCTTGTTCCATTG	0.423													G	74086200	T	G	74086200	3	3	238	1	0	0	0	0	1	0	0	0	154	1609	56	5	287	5	ACOT6	14	74086200	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	8823908	74086200	33263340	475	120866											
NEK9	91754	broad.mit.edu	37	chr14	75562092	75562092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagttccaatggataagCcactgctattggaacggatg	10	9	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:75562092C>T	uc001xrl.2	-	18	2370	c.2216G>A	c.(2215-2217)GGC>GAC	p.G739D	NEK9_uc001xrk.2_Missense_Mutation_p.G239D	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	739	Interaction with NEK6.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AATGGATAAGCCACTGCTATT	0.383													T	75562092	C	T	75562092	3	4	238	1	0	0	0	0	1	0	0	0	10331	739	26	2	743	2	NEK9	14	75562092	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1475892	75562092	31787448	476	120867											
EML5	161436	broad.mit.edu	37	chr14	89088957	89088957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacatcttactttgcctctGcacacagaacgaacacaatc	5	13	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:89088957G>A	uc001xxg.2	-	37	5190	c.5004C>T	c.(5002-5004)TGC>TGT	p.C1668C	EML5_uc001xxf.2_Silent_p.C455C|EML5_uc001xxh.1_Silent_p.C799C|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_5'Flank	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1660						cytoplasm|microtubule				ovary(3)	3						CTTTGCCTCTGCACACAGAAC	0.483													A	89088957	G	A	89088957	2	1	238	1	0	0	0	0	0	0	0	1	5100	1311	46	2		2	EML5	14	89088957	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	13526865	89088957	18260583	477	120868											
C14orf159	80017	broad.mit.edu	37	chr14	91681783	91681783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggctatgccctggcctgCgcactctacatcctgtactc	10	15	1	0	rs146936755	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:91681783C>T	uc001xzb.2	+	15	2352	c.1584C>T	c.(1582-1584)TGC>TGT	p.C528C	C14orf159_uc001xyx.2_Silent_p.C476C|C14orf159_uc001xyw.2_Silent_p.C533C|C14orf159_uc001xzc.2_Silent_p.C528C|C14orf159_uc001xza.2_Silent_p.C533C|C14orf159_uc001xyv.2_Silent_p.C493C|C14orf159_uc001xyz.2_Silent_p.C404C|C14orf159_uc001xze.2_Silent_p.C528C	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	528						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CCCTGGCCTGCGCACTCTACA	0.542													T	91681783	C	T	91681783	2	4	238	1	0	0	0	0	0	0	0	1	1755	776	27	1		1	C14orf159	14	91681783	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2592826	91681783	15667757	478	120869											
LGMN	5641	broad.mit.edu	37	chr14	93176079	93176079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagatcattggtgttcaTcagtttccttttcatgatgg	8	9	4	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:93176079T>C	uc001yav.2	-	12	1284	c.958A>G	c.(958-960)ATG>GTG	p.M320V	LGMN_uc001yat.2_Missense_Mutation_p.M320V|LGMN_uc001yau.2_Missense_Mutation_p.M320V|LGMN_uc001yaw.2_Missense_Mutation_p.M320V|LGMN_uc010aul.2_Missense_Mutation_p.M201V|LGMN_uc001yax.2_Missense_Mutation_p.M320V|LGMN_uc001yay.2_Missense_Mutation_p.M320V	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	320					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TTGGTGTTCATCAGTTTCCTT	0.562													C	93176079	T	C	93176079	3	2	238	1	0	0	0	0	1	0	0	0	8755	1435	50	3	359	3	LGMN	14	93176079	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1494296	93176079	14173461	479	120870											
EML1	2009	broad.mit.edu	37	chr14	100375723	100375723	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggatttccaccccacGgacaccaacatcatagttac	7	15	1	0	rs78864584	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:100375723G>T	uc001ygs.2	+	11	1215	c.1146G>T	c.(1144-1146)ACG>ACT	p.T382T	EML1_uc010avt.1_Silent_p.T369T|EML1_uc010tww.1_Silent_p.T370T|EML1_uc001ygq.2_Silent_p.T401T|EML1_uc001ygr.2_Silent_p.T401T	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	382	WD 3.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCACCCCACGGACACCAACA	0.433													T	100375723	G	T	100375723	2	4	238	1	0	0	0	0	0	0	0	1	5096	1103	39	5		5	EML1	14	100375723	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	7199644	100375723	6973817	480	120871											
RCOR1	23186	broad.mit.edu	37	chr14	103180949	103180949	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaattggtttcagtcaaaCgacaggtactcataagcctg	10	8	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:103180949C>T	uc001ymb.2	+	8	1039	c.1039C>T	c.(1039-1041)CGA>TGA	p.R347*		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	347	Potential.|Interaction with KDM1A.				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			ovary(1)	1						TTCAGTCAAACGACAGGTACT	0.403													T	103180949	C	T	103180949	4	4	238	1	0	0	0	0	0	1	0	0	13182	528	19	1	1069	1	RCOR1	14	103180949	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2805226	103180949	4168591	481	120872											
TDRD9	122402	broad.mit.edu	37	chr14	104481129	104481129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgcatgttgattctcggcGacctgtcatggaccaagagt	11	10	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr14:104481129G>A	uc001yom.3	+	21	2204	c.2174G>A	c.(2173-2175)CGA>CAA	p.R725Q	TDRD9_uc001yon.3_Missense_Mutation_p.R463Q	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	725					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GATTCTCGGCGACCTGTCATG	0.368													A	104481129	G	A	104481129	3	1	238	1	0	0	0	0	1	0	0	0	15733	1058	37	1	2256	1	TDRD9	14	104481129	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1300180	104481129	2868411	482	120873											
TJP1	7082	broad.mit.edu	37	chr15	30024704	30024704	+	Frame_Shift_Del	DEL	A	A	-													gcaacatcagctattggtccAaaaatggttacaggcctcag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:30024703_30024703CA>C	uc001zcr.3	-	14	2426	c.1951_1951TG>G	c.(1951-1953)ggafs	p.G651fs	TJP1_uc010azl.3_Frame_Shift_Del_p.G639fs|TJP1_uc001zcq.3_Frame_Shift_Del_p.G655fs|TJP1_uc001zcs.3_Frame_Shift_Del_p.G651fs	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	651	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|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)		GCTATTGGTCCAAAAATGGTT	0.368													-	30024704	A	-	30024704	7	5	238	1	0	1	0	1	0	0	0	0	15926	127	5	0	3352	0	TJP1	15	30024704	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08		30024704	72506688	483	120874											
ZNF770	54989	broad.mit.edu	37	chr15	35273959	35273959	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccaggagcctgacattgTtgggaagcattatagttaac	10	8	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:35273959T>C	uc001ziw.2	-	3	1988	c.1677A>G	c.(1675-1677)CAA>CAG	p.Q559Q		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CCTGACATTGTTGGGAAGCAT	0.388													C	35273959	T	C	35273959	2	2	238	1	0	0	0	0	0	0	0	1	18140	1722	60	3		3	ZNF770	15	35273959	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	5249255	35273959	67257433	484	120875											
FSIP1	161835	broad.mit.edu	37	chr15	40005706	40005706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccgattatgcagatcgCgttgctctttggtgttccta	10	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:40005706C>T	uc001zki.2	-	10	1345	c.1127G>A	c.(1126-1128)CGC>CAC	p.R376H		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	376										ovary(2)|skin(1)	3		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)		ATGCAGATCGCGTTGCTCTTT	0.313													T	40005706	C	T	40005706	3	4	238	1	0	0	0	0	1	0	0	0	6074	768	27	1	630	1	FSIP1	15	40005706	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4731747	40005706	62525686	485	120876											
PAK6	56924	broad.mit.edu	37	chr15	40565133	40565133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagagctacctggtgggcGaggagctgtgggtgctcatg	17	8	1	1	rs34445577		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:40565133G>A	uc010bbl.2	+	7	1863	c.1423G>A	c.(1423-1425)GAG>AAG	p.E475K	PAK6_uc010bbm.2_Missense_Mutation_p.E475K|PAK6_uc001zky.3_Missense_Mutation_p.E475K|PAK6_uc010bbn.2_Missense_Mutation_p.E475K|PAK6_uc001zlb.2_Missense_Mutation_p.E475K	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	475	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		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)		CCTGGTGGGCGAGGAGCTGTG	0.632													A	40565133	G	A	40565133	3	1	238	1	0	0	0	0	1	0	0	0	11404	1059	37	1	1437	1	PAK6	15	40565133	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	559427	40565133	61966259	486	120877											
C15orf52	388115	broad.mit.edu	37	chr15	40630772	40630773	+	Frame_Shift_Ins	INS	-	-	G													agctgatggccacctgcgtgINSggggggcttcgggtcacacg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:40630771_40630772T>TG	uc001zlh.4	-	4	625_626	c.609_610A>CA	c.(607-612)cccacgfs	p.P203fs	C15orf52_uc001zli.1_Frame_Shift_Ins_p.P135fs|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	203										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	40630773	-	G	40630772	7	5	238	1	0	1	1	0	0	0	0	0	1800	1335	47	0	1023	0	C15orf52	15	40630772	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	65639	40630772	61900620	487	120878											
VPS18	57617	broad.mit.edu	37	chr15	41192775	41192775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggccctggccgtgctcGcccgccaccgtgacccccag	13	19	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:41192775G>A	uc001zne.2	+	4	2098	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	587					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		GGCCGTGCTCGCCCGCCACCG	0.597													A	41192775	G	A	41192775	3	1	238	1	0	0	0	0	1	0	0	0	17191	1087	38	1	1773	1	VPS18	15	41192775	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	562003	41192775	61338617	488	120879											
MGA	23269	broad.mit.edu	37	chr15	41961400	41961400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaccaagcaaggaagacGcatgtttccttactgtcgtt	9	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:41961400G>A	uc001zog.1	+	2	399	c.308G>A	c.(307-309)CGC>CAC	p.R103H	MGA_uc010ucy.1_Missense_Mutation_p.R103H|MGA_uc010ucz.1_Missense_Mutation_p.R103H	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	103	T-box.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		CAAGGAAGACGCATGTTTCCT	0.383													A	41961400	G	A	41961400	3	1	238	1	0	0	0	0	1	0	0	0	9540	1087	38	1	310	1	MGA	15	41961400	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	768625	41961400	60569992	489	120880											
MYO1E	4643	broad.mit.edu	37	chr15	59553620	59553620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgacacgtaacttaccGctccttggtacatttcaatt	6	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:59553620G>A	uc002aga.2	-	3	608	c.236C>T	c.(235-237)GCG>GTG	p.A79V		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	79	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		GTAACTTACCGCTCCTTGGTA	0.348													A	59553620	G	A	59553620	3	1	238	1	0	0	0	0	1	0	0	0	10072	1101	38	1	3194	1	MYO1E	15	59553620	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	17592220	59553620	42977772	490	120881											
VPS13C	54832	broad.mit.edu	37	chr15	62165561	62165561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgtaattgctgccaaacCtttcccaacagaaccggtga	7	12	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:62165561C>A	uc002agz.2	-	78	10536	c.10462G>T	c.(10462-10464)GGT>TGT	p.G3488C	VPS13C_uc002aha.2_Missense_Mutation_p.G3445C|VPS13C_uc002ahb.1_Missense_Mutation_p.G3488C|VPS13C_uc002ahc.1_Missense_Mutation_p.G3445C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3488					protein localization					ovary(2)	2						GCTGCCAAACCTTTCCCAACA	0.343													A	62165561	C	A	62165561	3	1	238	1	0	0	0	0	1	0	0	0	17188	681	24	5	859	5	VPS13C	15	62165561	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2611941	62165561	40365831	491	120882											
TLN2	83660	broad.mit.edu	37	chr15	63029196	63029196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttagattctgctcgagacGtgatggagggctccgccatg	14	9	1	3	rs140997624		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:63029196G>A	uc002alb.3	+	26	3478	c.3478G>A	c.(3478-3480)GTG>ATG	p.V1160M		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1160	Ala-rich.				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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TGCTCGAGACGTGATGGAGGG	0.617													A	63029196	G	A	63029196	3	1	238	1	0	0	0	0	1	0	0	0	15945	1145	40	1	3580	1	TLN2	15	63029196	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	863635	63029196	39502196	492	120883											
HCN4	10021	broad.mit.edu	37	chr15	73615926	73615926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcgaggcggagcccagCgcagaagggatcagggactg	20	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:73615926C>T	uc002avp.2	-	8	3502	c.2508G>A	c.(2506-2508)GCG>GCA	p.A836A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	836	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CGGAGCCCAGCGCAGAAGGGA	0.672													T	73615926	C	T	73615926	2	4	238	1	0	0	0	0	0	0	0	1	6999	755	27	1		1	HCN4	15	73615926	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	10586730	73615926	28915466	493	120884											
CYP1A1	1543	broad.mit.edu	37	chr15	75013992	75013992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgacagctggacattggCgttctcatccagctgcttct	9	12	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:75013992C>T	uc002ayp.3	-	3	1014	c.892G>A	c.(892-894)GCC>ACC	p.A298T	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.A34T|CYP1A1_uc010bjx.2_Missense_Mutation_p.A34T|CYP1A1_uc002ayq.3_Missense_Mutation_p.A298T|CYP1A1_uc010bjy.2_Missense_Mutation_p.A298T|CYP1A1_uc010bjz.1_Missense_Mutation_p.A34T	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	298					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			ovary(2)|breast(2)|pancreas(1)	5					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)	TGGACATTGGCGTTCTCATCC	0.517									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				T	75013992	C	T	75013992	3	4	238	1	0	0	0	0	1	0	0	0	4149	768	27	1	666	1	CYP1A1	15	75013992	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1398066	75013992	27517400	494	120885											
UBE2Q2	92912	broad.mit.edu	37	chr15	76161330	76161330	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttcagaagaagaggaAgaagaagaagagatggctga	15	3	1	9			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:76161330A>G	uc002bbg.2	+	4	812	c.426A>G	c.(424-426)GAA>GAG	p.E142E	UBE2Q2_uc002bbh.2_Silent_p.E107E|UBE2Q2_uc010umn.1_Silent_p.E126E|UBE2Q2_uc002bbi.2_Silent_p.E23E	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q 2 isoform 1	142	Glu-rich.				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2						aagaagaggaagaagaagaag	0.289													G	76161330	A	G	76161330	2	3	238	1	0	0	0	0	0	0	0	1	16867	69	3	3		3	UBE2Q2	15	76161330	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1147338	76161330	26370062	495	120886											
LINGO1	84894	broad.mit.edu	37	chr15	77906539	77906539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggcagaagaggacgacGcccaggaaagagatgaagcc	14	10	0	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:77906539G>A	uc002bct.1	-	2	1762	c.1710C>T	c.(1708-1710)GGC>GGT	p.G570G	LINGO1_uc002bcu.1_Silent_p.G564G	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	570	Helical; (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						AGAGGACGACGCCCAGGAAAG	0.597													A	77906539	G	A	77906539	2	1	238	1	0	0	0	0	0	0	0	1	8814	1074	38	1		1	LINGO1	15	77906539	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1745209	77906539	24624853	496	120887											
C15orf58	390637	broad.mit.edu	37	chr15	90784210	90784210	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgaggactggggcaggCaaaccattcctgactttgtt	11	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:90784210C>T	uc002bpc.2	+	4	249	c.70C>T	c.(70-72)CAA>TAA	p.Q24*		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	24					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CTGGGGCAGGCAAACCATTCC	0.478													T	90784210	C	T	90784210	4	4	238	1	0	0	0	0	0	1	0	0	1806	711	25	2	72	2	C15orf58	15	90784210	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	12877671	90784210	11747182	497	120888											
C15orf58	390637	broad.mit.edu	37	chr15	90784375	90784375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggggctgtttcgctacCgtctacgggagctacagacc	13	12	1	1	rs143661647		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:90784375C>T	uc002bpc.2	+	4	414	c.235C>T	c.(235-237)CGT>TGT	p.R79C		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	79					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						GTTTCGCTACCGTCTACGGGA	0.602													T	90784375	C	T	90784375	3	4	238	1	0	0	0	0	1	0	0	0	1806	652	23	1	237	1	C15orf58	15	90784375	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	165	90784375	11747017	498	120889											
CHD2	1106	broad.mit.edu	37	chr15	93563304	93563304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaacaacaatccaccaTggggaagcgacaggcaccat	11	12	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr15:93563304T>C	uc002bsp.2	+	38	5544	c.4969T>C	c.(4969-4971)TGG>CGG	p.W1657R	CHD2_uc002bso.1_Missense_Mutation_p.W1657R	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1657					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAATCCACCATGGGGAAGCGA	0.512													C	93563304	T	C	93563304	3	2	238	1	0	0	0	0	1	0	0	0	3325	1464	51	3	5119	3	CHD2	15	93563304	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2778929	93563304	8968088	499	120890											
EME2	197342	broad.mit.edu	37	chr16	1825647	1825647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagctgagtcggcacgtGtgcgccgttaccaaggctct	14	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:1825647G>A	uc002cmq.1	+	6	894	c.894G>A	c.(892-894)GTG>GTA	p.V298V	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.V247V	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	254					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						GTCGGCACGTGTGCGCCGTTA	0.642								Direct_reversal_of_damage|Homologous_recombination					A	1825647	G	A	1825647	2	1	238	1	0	0	0	0	0	0	0	1	5089	1364	48	4		4	EME2	16	1825647	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		1825647	88529106	500	120891											
TSC2	7249	broad.mit.edu	37	chr16	2138301	2138301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtggattgcccggctccGccacatcaagcggctccgcc	11	17	1	0	rs137854396		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:2138301G>A	uc002con.2	+	41	5340	c.5234G>A	c.(5233-5235)CGC>CAC	p.R1745H	TSC2_uc010bsd.2_Missense_Mutation_p.R1722H|TSC2_uc002coo.2_Missense_Mutation_p.R1678H|TSC2_uc010uvv.1_Missense_Mutation_p.R1642H|TSC2_uc010uvw.1_Missense_Mutation_p.R1630H|TSC2_uc002cop.2_Missense_Mutation_p.R1501H|TSC2_uc002coq.2_Missense_Mutation_p.R520H|TSC2_uc002cor.2_Missense_Mutation_p.R446H	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1745	Rap-GAP.			R->Q: Abolishes GAP activity.	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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GCCCGGCTCCGCCACATCAAG	0.662			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2138301	G	A	2138301	3	1	238	1	0	0	0	0	1	0	0	0	16603	1087	38	1	5392	1	TSC2	16	2138301	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	312654	2138301	88216452	501	120892											
TRAF7	84231	broad.mit.edu	37	chr16	2226331	2226331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagggcagtgtcaccgcGctggctgtgtcccggggccg	16	15	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:2226331G>A	uc002cow.2	+	20	2043	c.1944G>A	c.(1942-1944)GCG>GCA	p.A648A		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	648	WD 7.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTGTCACCGCGCTGGCTGTGT	0.647													A	2226331	G	A	2226331	2	1	238	1	0	0	0	0	0	0	0	1	16443	1074	38	1		1	TRAF7	16	2226331	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	88030	2226331	88128422	502	120893											
KREMEN2	79412	broad.mit.edu	37	chr16	3016424	3016424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggtccaggtgtgcctaCgcttctgccgcatgaagggg	14	12	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:3016424C>T	uc002csg.2	+	4	765	c.460C>T	c.(460-462)CGC>TGC	p.R154C	KREMEN2_uc010bsw.1_Missense_Mutation_p.R154C|KREMEN2_uc002csh.2_Missense_Mutation_p.R154C|KREMEN2_uc010uwl.1_Missense_Mutation_p.R154C|KREMEN2_uc010bsx.2_Missense_Mutation_p.R154C|KREMEN2_uc002csi.2_Missense_Mutation_p.R154C|PAQR4_uc002csj.3_5'Flank|PAQR4_uc002csk.3_5'Flank|PAQR4_uc002csl.3_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	kringle-containing transmembrane protein 2	154	Extracellular (Potential).|WSC.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)	2						GGTGTGCCTACGCTTCTGCCG	0.632													T	3016424	C	T	3016424	3	4	238	1	0	0	0	0	1	0	0	0	8443	536	19	1	474	1	KREMEN2	16	3016424	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	790093	3016424	87338329	503	120894											
ZNF205	7755	broad.mit.edu	37	chr16	3165484	3165484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacactccgagggggcatcGcaggaggatggggctcaagg	17	11	1	0	rs144841352		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:3165484G>A	uc002cub.2	+	3	321	c.186G>A	c.(184-186)TCG>TCA	p.S62S	MGC3771_uc010btd.2_5'Flank|MGC3771_uc010bte.2_RNA|MGC3771_uc002ctz.3_RNA|ZNF205_uc002cua.2_Silent_p.S62S	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AGGGGGCATCGCAGGAGGATG	0.612													A	3165484	G	A	3165484	2	1	238	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZNF205	16	3165484	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	149060	3165484	87189269	504	120895											
TNP2	7142	broad.mit.edu	37	chr16	11362892	11362892	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggcgctttggtggtggActagtgttgggactctggct	17	6	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:11362892A>G	uc002das.2	-	1	269	c.228T>C	c.(226-228)AGT>AGC	p.S76S	C16orf75_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	transition protein 2 (during histone to	76					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding				0						TTGGTGGTGGACTAGTGTTGG	0.622													G	11362892	A	G	11362892	2	3	238	1	0	0	0	0	0	0	0	1	16331	272	10	3		3	TNP2	16	11362892	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	8197408	11362892	78991861	505	120896											
ZC3H7A	29066	broad.mit.edu	37	chr16	11846617	11846619	+	In_Frame_Del	DEL	GGA	GGA	-													accttctctttgtgcttctcGgaggagatgtggccctgcca							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:11846616_11846618CGGA>C	uc002dbk.3	-	20	2831_2833	c.2633_2635TCCG>G	c.(2632-2637)tccgag>tGag	p.878_879SE>*	ZC3H7A_uc002dbh.3_In_Frame_Del_p.18_19SE>*|ZC3H7A_uc002dbi.3_In_Frame_Del_p.66_67SE>*|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_In_Frame_Del_p.878_879SE>*	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	878						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						TTGTGCTTCTCGGAGGAGATGTG	0.502													-	11846619	GGA	-	11846617	7	5	238	1	0	1	0	1	0	0	0	0	17569	1103	39	0	289	0	ZC3H7A	16	11846617	In_Frame_Del	DEL	GGA	TCGA-F1-A448-01A-11D-A24D-08	483725	11846617	78508136	506	120897											
SNX29	92017	broad.mit.edu	37	chr16	12662446	12662446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcccggggtcagccccGggagacccgcaacgtggagc	15	15	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:12662446G>A	uc002dby.3	+	14	1303	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	416					cell communication		phosphatidylinositol binding			ovary(1)	1						GGTCAGCCCCGGGAGACCCGC	0.677													A	12662446	G	A	12662446	3	1	238	1	0	0	0	0	1	0	0	0	14898	1116	39	1	1297	1	SNX29	16	12662446	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	815829	12662446	77692307	507	120898											
ACSM5	54988	broad.mit.edu	37	chr16	20439171	20439171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccatctttcggctgcttgTgcaggaggatctgaccaggt	12	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:20439171T>C	uc002dhe.2	+	7	1130	c.983T>C	c.(982-984)GTG>GCG	p.V328A		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	328					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						CGGCTGCTTGTGCAGGAGGAT	0.468													C	20439171	T	C	20439171	3	2	238	1	0	0	0	0	1	0	0	0	187	1696	59	3	1005	3	ACSM5	16	20439171	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	7776725	20439171	69915582	508	120899											
ERN2	10595	broad.mit.edu	37	chr16	23703318	23703320	+	In_Frame_Del	DEL	AAG	AAG	-													gttgcttggctctgctccaaAagaaggggtgggccagcacc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:23703317_23703319AAAG>A	uc002dma.4	-	18	2654_2656	c.2485_2487CTTT>T	c.(2485-2487)ttt>T	p.F829del	ERN2_uc010bxp.3_In_Frame_Del_p.F777del	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	781	KEN.				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)		CTCTGCTCCAAAAGAAGGGGTGG	0.591													-	23703320	AAG	-	23703318	7	5	238	1	0	1	0	1	0	0	0	0	5238	14	1	0	454	0	ERN2	16	23703318	In_Frame_Del	DEL	AAG	TCGA-F1-A448-01A-11D-A24D-08	3264147	23703318	66651435	509	120900											
RBBP6	5930	broad.mit.edu	37	chr16	24567183	24567183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccacctccatcttacaCgtgtttccgttgtggtaaac	6	14	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:24567183C>T	uc002dmh.2	+	6	1519	c.479C>T	c.(478-480)ACG>ATG	p.T160M	RBBP6_uc010vcb.1_Missense_Mutation_p.T27M|RBBP6_uc002dmi.2_Missense_Mutation_p.T160M|RBBP6_uc010bxr.2_Missense_Mutation_p.T160M|RBBP6_uc002dmk.2_Missense_Mutation_p.T27M	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	160	CCHC-type.				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			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CCATCTTACACGTGTTTCCGT	0.358													T	24567183	C	T	24567183	3	4	238	1	0	0	0	0	1	0	0	0	13103	536	19	1	555	1	RBBP6	16	24567183	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	863865	24567183	65787570	510	120901											
ATP2A1	487	broad.mit.edu	37	chr16	28914189	28914189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcccatgaccatggccCtgtccgtgctggtgaccatc	11	16	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:28914189C>A	uc002dro.1	+	19	2885	c.2701C>A	c.(2701-2703)CTG>ATG	p.L901M	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.L901M|ATP2A1_uc002drp.1_Missense_Mutation_p.L776M	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	901	Helical; Name=8; (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GACCATGGCCCTGTCCGTGCT	0.617													A	28914189	C	A	28914189	3	1	238	1	0	0	0	0	1	0	0	0	1136	680	24	5	2775	5	ATP2A1	16	28914189	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4347006	28914189	61440564	511	120902											
PRRT2	112476	broad.mit.edu	37	chr16	29825697	29825697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtggacggggcccagcGtctgggccgggtagccaagc	19	12	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:29825697G>A	uc002due.3	+	3	1224	c.923G>A	c.(922-924)CGT>CAT	p.R308H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.R308H|PRRT2_uc002duf.1_3'UTR|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	308	Cytoplasmic (Potential).				response to biotic stimulus	integral to membrane					0						GGGGCCCAGCGTCTGGGCCGG	0.667													A	29825697	G	A	29825697	3	1	238	1	0	0	0	0	1	0	0	0	12610	1145	40	1	929	1	PRRT2	16	29825697	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	911508	29825697	60529056	512	120903											
ZNF48	197407	broad.mit.edu	37	chr16	30410095	30410095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgaacgggcccggccAccaccaccatccactctgct	10	18	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:30410095A>G	uc002dya.1	+	2	1583	c.1524A>G	c.(1522-1524)CCA>CCG	p.P508P	ZNF48_uc002dxz.1_Silent_p.P385P	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	508	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGGCCCGGCCACCACCACCAT	0.657													G	30410095	A	G	30410095	2	3	238	1	0	0	0	0	0	0	0	1	17931	146	6	3		3	ZNF48	16	30410095	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	584398	30410095	59944658	513	120904											
C16orf93	90835	broad.mit.edu	37	chr16	30771925	30771925	+	Splice_Site	DEL	A	A	-													ccacgcccccctcagtccctActccctcatctcagcattgg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:30771925delA	uc002dzm.2	-	3	630	c.299_splice	c.e3+1	p.E100_splice	C16orf93_uc002dzn.2_Splice_Site_p.E100_splice|C16orf93_uc002dzo.2_Splice_Site_p.E63_splice|C16orf93_uc002dzp.2_Splice_Site_p.E100_splice|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835												0						CTCAGTCCCTACTCCCTCATC	0.522													-	30771925	A	-	30771925	8	5	238	1	0	1	0	1	0	0	1	0	1846	405	14	0	722	0	C16orf93	16	30771925	Splice_Site	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	361830	30771925	59582828	514	120905											
ZNF629	23361	broad.mit.edu	37	chr16	30793647	30793647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatccaggaagctctctcCgcagtgggagcagatgtagg	15	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:30793647C>T	uc002dzs.1	-	3	2210	c.2002G>A	c.(2002-2004)GGA>AGA	p.G668R		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	668	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AAGCTCTCTCCGCAGTGGGAG	0.612													T	30793647	C	T	30793647	3	4	238	1	0	0	0	0	1	0	0	0	18050	661	23	1	611	1	ZNF629	16	30793647	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	21722	30793647	59561106	515	120906											
ITGAX	3687	broad.mit.edu	37	chr16	31382513	31382513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacctggctgtgggggccCggggccaggtgctcctgctc	18	13	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:31382513C>T	uc002ebu.1	+	15	1886	c.1819C>T	c.(1819-1821)CGG>TGG	p.R607W	ITGAX_uc002ebt.2_Missense_Mutation_p.R607W|ITGAX_uc010vfk.1_Missense_Mutation_p.R257W	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	607	FG-GAP 7.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGTGGGGGCCCGGGGCCAGGT	0.662													T	31382513	C	T	31382513	3	4	238	1	0	0	0	0	1	0	0	0	7889	643	23	1	1877	1	ITGAX	16	31382513	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	588866	31382513	58972240	516	120907											
CETP	1071	broad.mit.edu	37	chr16	56995902	56995902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgataaccatgctggctgCcacagtcctgaccctggccc	9	17	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:56995902C>T	uc002eki.2	+	1	68	c.11C>T	c.(10-12)GCC>GTC	p.A4V	CETP_uc002ekj.2_Missense_Mutation_p.A4V	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	4					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			central_nervous_system(1)|skin(1)	2						ATGCTGGCTGCCACAGTCCTG	0.637													T	56995902	C	T	56995902	3	4	238	1	0	0	0	0	1	0	0	0	3277	739	26	2	13	2	CETP	16	56995902	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	25613389	56995902	33358851	517	120908											
NLRC5	84166	broad.mit.edu	37	chr16	57088736	57088736	+	Frame_Shift_Del	DEL	A	A	-													taagcctgtgtccacgggttAaaaaggtggatctcaggtgg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:57088735_57088735TA>T	uc021tiu.1	+	23	3706	c.3579_3579TA>T	c.(3577-3579)gttfs	p.V1193fs	NLRC5_uc021tiv.1_Frame_Shift_Del_p.V998fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.V968fs|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Frame_Shift_Del_p.V109fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1193					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 MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|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|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.R1192L(1)|p.R1192W(1)		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)				GTCCACGGGTTAAAAAGGTGG	0.582													-	57088736	A	-	57088736	7	5	238	1	0	1	0	1	0	0	0	0	10470	363	13	0	3670	0	NLRC5	16	57088736	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	92834	57088736	33266017	518	120909											
CES2	8824	broad.mit.edu	37	chr16	66975082	66975082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaggccctggtgggctGcctgcggggcaagagtaaag	17	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:66975082G>A	uc002eqr.2	+	6	2064	c.1064G>A	c.(1063-1065)TGC>TAC	p.C355Y	CES2_uc002eqq.2_Missense_Mutation_p.C355Y|CES2_uc002eqs.2_Missense_Mutation_p.C198Y	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	291					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CTGGTGGGCTGCCTGCGGGGC	0.562													A	66975082	G	A	66975082	3	1	238	1	0	0	0	0	1	0	0	0	3270	1319	46	2	1086	2	CES2	16	66975082	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	9886346	66975082	23379671	519	120910											
C16orf70	80262	broad.mit.edu	37	chr16	67165190	67165190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaaacttttttttaggTgatcgaagtatgtgatttga	8	4	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:67165190T>C	uc002erc.2	+	5	317	c.233T>C	c.(232-234)GTG>GCG	p.V78A	C16orf70_uc002erd.2_Missense_Mutation_p.V78A|C16orf70_uc002ere.1_Missense_Mutation_p.V56A	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	78										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTTTTTTAGGTGATCGAAGTA	0.284													C	67165190	T	C	67165190	3	2	238	1	0	0	0	0	1	0	0	0	1829	1710	59	3	247	3	C16orf70	16	67165190	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	190108	67165190	23189563	520	120911											
NFAT5	10725	broad.mit.edu	37	chr16	69727814	69727814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccaggtcctacccagtcGgaatcatcacagaccccctt	6	17	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:69727814G>A	uc002exm.1	+	12	5240	c.4032G>A	c.(4030-4032)TCG>TCA	p.S1344S	NFAT5_uc002exi.2_Silent_p.S1268S|NFAT5_uc002exj.1_Silent_p.S1268S|NFAT5_uc002exk.1_Silent_p.S1268S|NFAT5_uc002exl.1_Silent_p.S1362S|NFAT5_uc002exn.1_Silent_p.S1361S|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1344					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTACCCAGTCGGAATCATCAC	0.473													A	69727814	G	A	69727814	2	1	238	1	0	0	0	0	0	0	0	1	10360	1103	39	1		1	NFAT5	16	69727814	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2562624	69727814	20626939	521	120912											
FUK	197258	broad.mit.edu	37	chr16	70497629	70497629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaggagccaccctcaaCgccctgctggtggctgctga	14	14	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:70497629C>T	uc002eyy.2	+	3	244	c.186C>T	c.(184-186)AAC>AAT	p.N62N	FUK_uc010vmb.1_Silent_p.N62N|FUK_uc010cft.2_Silent_p.N62N|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	62						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CCACCCTCAACGCCCTGCTGG	0.657													T	70497629	C	T	70497629	2	4	238	1	0	0	0	0	0	0	0	1	6096	535	19	1		1	FUK	16	70497629	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	769815	70497629	19857124	522	120913											
ZNF19	7567	broad.mit.edu	37	chr16	71509154	71509154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctccagagtagacatgCtcaaggtgacctagctggga	11	10	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:71509154C>T	uc010cgc.1	-	6	1802	c.1296G>A	c.(1294-1296)GAG>GAA	p.E432E	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.E420E|ZNF19_uc002fal.1_Silent_p.E420E|ZNF19_uc002fam.1_Silent_p.E432E	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	432	C2H2-type 10; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		AGTAGACATGCTCAAGGTGAC	0.289													T	71509154	C	T	71509154	2	4	238	1	0	0	0	0	0	0	0	1	17752	796	28	2		2	ZNF19	16	71509154	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1011525	71509154	18845599	523	120914											
BCAR1	9564	broad.mit.edu	37	chr16	75263597	75263597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgggtcacctggctgcGcacgtcagcagccttggcct	14	13	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:75263597G>A	uc002fdv.2	-	7	2548	c.2425C>T	c.(2425-2427)CGC>TGC	p.R809C	BCAR1_uc002fdt.2_Missense_Mutation_p.R262C|BCAR1_uc002fdu.2_Missense_Mutation_p.R599C|BCAR1_uc010cgu.2_Missense_Mutation_p.R798C|BCAR1_uc010vna.1_Missense_Mutation_p.R807C|BCAR1_uc010vnb.1_Missense_Mutation_p.R855C|BCAR1_uc002fdw.2_Missense_Mutation_p.R809C|BCAR1_uc010vnc.1_Missense_Mutation_p.R661C|BCAR1_uc010vnd.1_Missense_Mutation_p.R827C|BCAR1_uc002fdx.2_Missense_Mutation_p.R827C	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	809					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			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACCTGGCTGCGCACGTCAGCA	0.632													A	75263597	G	A	75263597	3	1	238	1	0	0	0	0	1	0	0	0	1348	1087	38	1	191	1	BCAR1	16	75263597	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3754443	75263597	15091156	524	120915											
KARS	3735	broad.mit.edu	37	chr16	75665396	75665396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgttgattcgccggaaGggtggggtgaagtcaacatc	14	8	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:75665396G>A	uc002feq.2	-	9	1218	c.1170C>T	c.(1168-1170)CCC>CCT	p.P390P	KARS_uc002fer.2_Silent_p.P418P|KARS_uc002fes.2_Silent_p.P234P	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	390					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	TTCGCCGGAAGGGTGGGGTGA	0.517													A	75665396	G	A	75665396	2	1	238	1	0	0	0	0	0	0	0	1	7980	987	35	4		4	KARS	16	75665396	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	401799	75665396	14689357	525	120916											
PLCG2	5336	broad.mit.edu	37	chr16	81962215	81962215	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaatattggacctcaAtacctataacgtcggtacgt	9	9	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:81962215A>C	uc002fgt.2	+	24	2719	c.2567A>C	c.(2566-2568)AAT>ACT	p.N856T		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	856					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TTGGACCTCAATACCTATAAC	0.478													C	81962215	A	C	81962215	3	2	238	1	0	0	0	0	1	0	0	0	12036	101	4	5	2657	5	PLCG2	16	81962215	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	6296819	81962215	8392538	526	120917											
FOXC2	2303	broad.mit.edu	37	chr16	86601058	86601058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggccagccccatgggCgtctattccggccacccgga	13	16	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:86601058C>T	uc002fjq.2	+	1	202	c.117C>T	c.(115-117)GGC>GGT	p.G39G		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	39					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				0						GCCCCATGGGCGTCTATTCCG	0.697									Late-onset_Hereditary_Lymphedema				T	86601058	C	T	86601058	2	4	238	1	0	0	0	0	0	0	0	1	5995	755	27	1		1	FOXC2	16	86601058	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4638843	86601058	3753695	527	120918											
CDK10	8558	broad.mit.edu	37	chr16	89761420	89761420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcacaagttcccatggCtgtcggaggccgggctgcgc	15	12	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:89761420C>G	uc010cio.2	+	11	917	c.874C>G	c.(874-876)CTG>GTG	p.L292V	CDK10_uc002fod.2_Missense_Mutation_p.L221V|CDK10_uc002foe.2_Missense_Mutation_p.L221V|CDK10_uc002fof.2_Missense_Mutation_p.L221V|CDK10_uc002fog.3_Missense_Mutation_p.L221V|CDK10_uc002foh.3_Missense_Mutation_p.L221V|CDK10_uc002foi.2_RNA	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	292	Protein kinase.				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)		GTTCCCATGGCTGTCGGAGGC	0.562													G	89761420	C	G	89761420	3	3	238	1	0	0	0	0	1	0	0	0	3125	796	28	5	916	5	CDK10	16	89761420	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3160362	89761420	593333	528	120919											
TUBB3	10381	broad.mit.edu	37	chr16	89986083	89986083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctgggcgccatcgcCgtggaccgctacatctccat	10	16	1	0	rs150785165	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr16:89986083C>T	uc002fpf.2	+	1	825	c.417C>T	c.(415-417)GCC>GCT	p.A139A	MC1R_uc002fpe.3_Silent_p.A139A|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		GCGCCATCGCCGTGGACCGCT	0.657													T	89986083	C	T	89986083	2	4	238	1	0	0	0	0	0	0	0	1	16754	639	23	1		1	TUBB3	16	89986083	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	224663	89986083	368670	529	120920											
NXN	64359	broad.mit.edu	37	chr17	729235	729235	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggatcaccagcagcccgttCctgcacacaaccttcccagt	7	18	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:729235C>T	uc002fsa.2	-	2	536	c.444G>A	c.(442-444)AGG>AGA	p.R148R	NXN_uc002fsb.1_Silent_p.R35R|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Silent_p.R40R	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	148					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCAGCCCGTTCCTGCACACAA	0.502													T	729235	C	T	729235	2	4	238	1	0	0	0	0	0	0	0	1	10787	854	30	4		4	NXN	17	729235	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		729235	80465975	530	120921											
ZMYND15	84225	broad.mit.edu	37	chr17	4647738	4647738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgccccccgaaagcgaCgagcagcattttaccctgca	10	16	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:4647738C>T	uc002fyt.2	+	9	1581	c.1542C>T	c.(1540-1542)GAC>GAT	p.D514D	ZMYND15_uc002fyv.2_Silent_p.D553D|ZMYND15_uc002fyu.2_Silent_p.D553D	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	514							zinc ion binding				0						CCGAAAGCGACGAGCAGCATT	0.602													T	4647738	C	T	4647738	2	4	238	1	0	0	0	0	0	0	0	1	17705	535	19	1		1	ZMYND15	17	4647738	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3918503	4647738	76547472	531	120922											
BCL6B	255877	broad.mit.edu	37	chr17	6927858	6927859	+	Frame_Shift_Ins	INS	-	-	C													ctcgaagctgcagtcaaggcINSccccccagtccagccagccc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:6927857_6927858G>GC	uc010clt.1	+	3	601_602	c.539_540G>GC	c.(538-540)ggcfs	p.G180fs	BCL6B_uc002geg.2_Frame_Shift_Ins_p.G180fs	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619													C	6927859	-	C	6927858	7	5	238	1	0	1	1	0	0	0	0	0	1377	726	26	0	550	0	BCL6B	17	6927858	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	2280120	6927858	74267352	532	120923											
CHRNB1	1140	broad.mit.edu	37	chr17	7357799	7357799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctcaacctgcaccaccGctcaccccacacccaccaaa	4	21	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:7357799G>A	uc002ghb.2	+	8	1045	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	CHRNB1_uc010vty.1_Missense_Mutation_p.R263H|CHRNB1_uc010vtz.1_Missense_Mutation_p.R169H	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	335	Cytoplasmic (Potential).				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			ovary(2)	2		Prostate(122;0.157)				CTGCACCACCGCTCACCCCAC	0.483													A	7357799	G	A	7357799	3	1	238	1	0	0	0	0	1	0	0	0	3390	1087	38	1	1034	1	CHRNB1	17	7357799	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	429941	7357799	73837411	533	120924											
CNTROB	116840	broad.mit.edu	37	chr17	7847956	7847956	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgccgcccaaccctccAgtacgccttaccccttgagc	6	22	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:7847956A>C	uc002gjq.2	+	13	2653	c.1734A>C	c.(1732-1734)CCA>CCC	p.P578P	CNTROB_uc002gjp.2_Silent_p.P578P|CNTROB_uc002gjr.2_Silent_p.P480P	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	578	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CCAACCCTCCAGTACGCCTTA	0.433													C	7847956	A	C	7847956	2	2	238	1	0	0	0	0	0	0	0	1	3651	202	7	5		5	CNTROB	17	7847956	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	490157	7847956	73347254	534	120925											
MYH13	8735	broad.mit.edu	37	chr17	10247429	10247429	+	Splice_Site	DEL	G	G	-													ggagaagatgcccataggctGgaaagaggataacagagtct							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:10247428_10247428TG>T	uc002gmk.1	-	16	1675	c.1585_splice	c.e16-1	p.P529_splice	MYH13_uc010vvf.1_Intron	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	529	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GCCCATAGGCTGGAAAGAGGA	0.463													-	10247429	G	-	10247429	8	5	238	1	0	1	0	1	0	0	1	0	10032	1363	47	0		0	MYH13	17	10247429	Splice_Site	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	2399473	10247429	70947781	535	120926											
MYH4	4622	broad.mit.edu	37	chr17	10358320	10358320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcatatggcttgagtGcgcgtgatgagttgagctag	14	8	1	4	rs111234155		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:10358320G>A	uc002gmn.2	-	21	2484	c.2373C>T	c.(2371-2373)CGC>CGT	p.R791R	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	791	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TGGCTTGAGTGCGCGTGATGA	0.463													A	10358320	G	A	10358320	2	1	238	1	0	0	0	0	0	0	0	1	10037	1306	46	2		2	MYH4	17	10358320	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	110891	10358320	70836890	536	120927											
DNAH9	1770	broad.mit.edu	37	chr17	11540071	11540071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtgaggatgatctacAgtcagcacgtccaggaggaa	13	8	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:11540071A>G	uc002gne.2	+	9	1824	c.1756A>G	c.(1756-1758)AGT>GGT	p.S586G		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	586	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		GATGATCTACAGTCAGCACGT	0.458													G	11540071	A	G	11540071	3	3	238	1	0	0	0	0	1	0	0	0	4608	188	7	3	1790	3	DNAH9	17	11540071	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1181751	11540071	69655139	537	120928											
DNAH9	1770	broad.mit.edu	37	chr17	11757429	11757429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagggtgcccaaggaccGgagctggaaggctgctaagg	19	8	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:11757429G>A	uc002gne.2	+	50	9685	c.9617G>A	c.(9616-9618)CGG>CAG	p.R3206Q	DNAH9_uc010coo.2_Missense_Mutation_p.R2500Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3206	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		CCCAAGGACCGGAGCTGGAAG	0.547													A	11757429	G	A	11757429	3	1	238	1	0	0	0	0	1	0	0	0	4608	1116	39	1	9815	1	DNAH9	17	11757429	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	217358	11757429	69437781	538	120929											
ZNF287	57336	broad.mit.edu	37	chr17	16455518	16455518	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catatattgcatttaaagggTttttctccattatgaatcct	5	7	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:16455518T>C	uc002gqi.2	-	6	2391	c.1938A>G	c.(1936-1938)AAA>AAG	p.K646K		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	639					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTAAAGGGTTTTTCTCCAT	0.388													C	16455518	T	C	16455518	2	2	238	1	0	0	0	0	0	0	0	1	17822	1722	60	3		3	ZNF287	17	16455518	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	4698089	16455518	64739692	539	120930											
MYO15A	51168	broad.mit.edu	37	chr17	18022483	18022483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggccgcctgcggccgcgCgcccggtcactcagcaaagc	13	18	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:18022483C>T	uc010vxh.1	+	2	707	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	123	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGCGGCCGCGCGCCCGGTCAC	0.642													T	18022483	C	T	18022483	2	4	238	1	0	0	0	0	0	0	0	1	10063	755	27	1		1	MYO15A	17	18022483	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1566965	18022483	63172727	540	120931											
FAM83G	644815	broad.mit.edu	37	chr17	18881958	18881958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttgacgagcttcttggCcacagtgcccgcgggcacca	15	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:18881958C>T	uc002guw.2	-	5	1188	c.1021G>A	c.(1021-1023)GCC>ACC	p.A341T	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	341										ovary(1)|central_nervous_system(1)	2						AGCTTCTTGGCCACAGTGCCC	0.602													T	18881958	C	T	18881958	3	4	238	1	0	0	0	0	1	0	0	0	5639	739	26	2	1458	2	FAM83G	17	18881958	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	859475	18881958	62313252	541	120932											
ALDH3A1	218	broad.mit.edu	37	chr17	19646611	19646611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagttccaggtgccaatgaCgaggaccacgcccagtggct	13	12	0	1	rs140767140	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:19646611C>T	uc010cqu.2	-	2	658	c.328G>A	c.(328-330)GTC>ATC	p.V110I	ALDH3A1_uc010vzd.1_Missense_Mutation_p.V110I|ALDH3A1_uc002gwj.2_Missense_Mutation_p.V110I|ALDH3A1_uc010cqv.2_Missense_Mutation_p.V110I|ALDH3A1_uc002gwk.2_Silent_p.S26S|ALDH3A1_uc002gwl.1_Missense_Mutation_p.V37I	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	110					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTGCCAATGACGAGGACCACG	0.647													T	19646611	C	T	19646611	3	4	238	1	0	0	0	0	1	0	0	0	497	536	19	1	1069	1	ALDH3A1	17	19646611	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	764653	19646611	61548599	542	120933											
CYTSB	92521	broad.mit.edu	37	chr17	20108104	20108104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatctagaggaagaaaacCgggtcctgaaggagaaactg	13	8	1	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:20108104C>T	uc002gwq.2	+	4	887	c.742C>T	c.(742-744)CGG>TGG	p.R248W	CYTSB_uc010cqx.2_Missense_Mutation_p.R248W|CYTSB_uc002gwr.2_Missense_Mutation_p.R248W|CYTSB_uc002gws.2_Missense_Mutation_p.R248W|CYTSB_uc002gwv.2_Missense_Mutation_p.R167W|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.R24W|CYTSB_uc002gwt.2_Missense_Mutation_p.R167W|CYTSB_uc002gwu.2_Missense_Mutation_p.R167W	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	248						nucleus					0						GGAAGAAAACCGGGTCCTGAA	0.483													T	20108104	C	T	20108104	3	4	238	1	0	0	0	0	1	0	0	0	4210	643	23	1	796	1	CYTSB	17	20108104	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	461493	20108104	61087106	543	120934											
PROCA1	147011	broad.mit.edu	37	chr17	27031396	27031396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggggactcgatgacatgGgagcaggttgggcccgcgcc	17	11	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:27031396G>T	uc002hcb.3	-	4	494	c.291C>A	c.(289-291)TCC>TCA	p.S97S	PROCA1_uc010crv.2_Silent_p.S23S|PROCA1_uc002hca.1_Silent_p.S95S	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	123					lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					CGATGACATGGGAGCAGGTTG	0.637													T	27031396	G	T	27031396	2	4	238	1	0	0	0	0	0	0	0	1	12546	1219	43	5		5	PROCA1	17	27031396	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	6923292	27031396	54163814	544	120935											
SSH2	85464	broad.mit.edu	37	chr17	27994186	27994186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaatccttctgcatcaTgatctcccttaatttggttt	4	12	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:27994186T>C	uc002heo.1	-	9	784	c.784A>G	c.(784-786)ATG>GTG	p.M262V	SSH2_uc010wbh.1_Missense_Mutation_p.M289V|SSH2_uc002hep.1_Missense_Mutation_p.M262V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	262					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			skin(2)	2						TTCTGCATCATGATCTCCCTT	0.388													C	27994186	T	C	27994186	3	2	238	1	0	0	0	0	1	0	0	0	15184	1464	51	3	3515	3	SSH2	17	27994186	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	962790	27994186	53201024	545	120936											
AMAC1	146861	broad.mit.edu	37	chr17	33520940	33520940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcgaacagtggcagcGttgccagcgggcaccacctg	13	14	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:33520940G>A	uc002hjd.2	-	1	473	c.387C>T	c.(385-387)AAC>AAT	p.N129N		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	129	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		CAGTGGCAGCGTTGCCAGCGG	0.597													A	33520940	G	A	33520940	2	1	238	1	0	0	0	0	0	0	0	1	559	1136	40	1		1	AMAC1	17	33520940	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5526754	33520940	47674270	546	120937											
ACACA	31	broad.mit.edu	37	chr17	35538197	35538197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccctaaggattgtgccTggaacctctttgattgcagc	10	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:35538197T>C	uc002hnm.2	-	40	4957	c.4766A>G	c.(4765-4767)CAG>CGG	p.Q1589R	ACACA_uc002hnk.2_Missense_Mutation_p.Q1511R|ACACA_uc002hnl.2_Missense_Mutation_p.Q1531R|ACACA_uc002hnn.2_Missense_Mutation_p.Q1589R|ACACA_uc002hno.2_Missense_Mutation_p.Q1626R|ACACA_uc010cuy.2_Missense_Mutation_p.Q283R	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1589					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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGATTGTGCCTGGAACCTCTT	0.443													C	35538197	T	C	35538197	3	2	238	1	0	0	0	0	1	0	0	0	106	1580	55	3	2342	3	ACACA	17	35538197	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2017257	35538197	45657013	547	120938											
PIP4K2B	8396	broad.mit.edu	37	chr17	36927291	36927291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcttttcatggcatagaCgtcaacagaggggtcgaatt	12	7	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:36927291C>T	uc002hqs.2	-	8	1523	c.1042G>A	c.(1042-1044)GTC>ATC	p.V348I	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	348	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ATGGCATAGACGTCAACAGAG	0.552													T	36927291	C	T	36927291	3	4	238	1	0	0	0	0	1	0	0	0	11937	536	19	1	220	1	PIP4K2B	17	36927291	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1389094	36927291	44267919	548	120939											
FBXO47	494188	broad.mit.edu	37	chr17	37099038	37099038	+	Frame_Shift_Del	DEL	A	A	-													tatttttacttaccaaagccAaaaagactacgagccttgcc					rs34478092		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:37099037_37099037CA>C	uc002hrc.2	-	8	1277	c.1077_1077TG>G	c.(1075-1077)ttgfs	p.L359fs		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	359										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TTACCAAAGCCAAAAAGACTA	0.403													-	37099038	A	-	37099038	7	5	238	1	0	1	0	1	0	0	0	0	5756	131	5	0	294	0	FBXO47	17	37099038	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	171747	37099038	44096172	549	120940											
KRTAP3-2	83897	broad.mit.edu	37	chr17	39155890	39155890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccaggcccggagttggCtggcaggagttgagcaggaa	17	9	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:39155890C>T	uc002hvs.2	-	1	249	c.216G>A	c.(214-216)CAG>CAA	p.Q72Q		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	keratin associated protein 3.2	72						keratin filament	structural molecule activity				0		Breast(137;0.00043)				CCGGAGTTGGCTGGCAGGAGT	0.607													T	39155890	C	T	39155890	2	4	238	1	0	0	0	0	0	0	0	1	8546	796	28	2		2	KRTAP3-2	17	39155890	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2056852	39155890	42039320	550	120941											
KRT13	3860	broad.mit.edu	37	chr17	39659000	39659000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcgcctgagctccgtgAtctctgtcttgctggtctga	13	12	3	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:39659000A>G	uc002hwu.1	-	5	1025	c.962T>C	c.(961-963)ATC>ACC	p.I321T	KRT13_uc002hwv.1_Missense_Mutation_p.I321T|KRT13_uc002hww.2_Missense_Mutation_p.I214T|KRT13_uc010wfr.1_Missense_Mutation_p.I214T|KRT13_uc010cxo.2_Missense_Mutation_p.I321T|KRT13_uc002hwx.1_Missense_Mutation_p.I309T	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	321	Rod.|Coil 2.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				GAGCTCCGTGATCTCTGTCTT	0.577													G	39659000	A	G	39659000	3	3	238	1	0	0	0	0	1	0	0	0	8450	333	12	3	430	3	KRT13	17	39659000	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	503110	39659000	41536210	551	120942											
CNP	1267	broad.mit.edu	37	chr17	40120334	40120334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagatggtgtcggctgaCgcttacaagatcacccccgg	11	13	1	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:40120334C>T	uc002hyl.1	+	2	396	c.252C>T	c.(250-252)GAC>GAT	p.D84D	CNP_uc002hyk.1_Silent_p.D84D|CNP_uc010wfz.1_Silent_p.D84D|CNP_uc002hym.1_Silent_p.D64D|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	84					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGTCGGCTGACGCTTACAAGA	0.632													T	40120334	C	T	40120334	2	4	238	1	0	0	0	0	0	0	0	1	3626	535	19	1		1	CNP	17	40120334	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	461334	40120334	41074876	552	120943											
PLEKHH3	79990	broad.mit.edu	37	chr17	40822661	40822661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagaggtccgtgaagaCgcagacatagtctccacccg	13	12	1	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:40822661C>T	uc002iau.2	-	10	1951	c.1484G>A	c.(1483-1485)CGT>CAT	p.R495H	PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.R492H	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	495	FERM.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCGTGAAGACGCAGACATAG	0.632													T	40822661	C	T	40822661	3	4	238	1	0	0	0	0	1	0	0	0	12078	536	19	1	913	1	PLEKHH3	17	40822661	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	702327	40822661	40372549	553	120944											
BRCA1	672	broad.mit.edu	37	chr17	41245760	41245760	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaattgtggatatttaattcGagttccatattgcttatact	7	5	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:41245760G>A	uc002icq.2	-	10	2020	c.1788C>T	c.(1786-1788)CTC>CTT	p.L596L	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L525L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.L549L|BRCA1_uc002ict.2_Silent_p.L596L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.L596L|BRCA1_uc002ide.1_Silent_p.L427L|BRCA1_uc010cyy.1_Silent_p.L596L|BRCA1_uc010whs.1_Silent_p.L596L|BRCA1_uc010cyz.2_Silent_p.L549L|BRCA1_uc010cza.2_Silent_p.L570L|BRCA1_uc010wht.1_Silent_p.L300L	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	596					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATTTAATTCGAGTTCCATAT	0.368			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41245760	G	A	41245760	2	1	238	1	0	0	0	0	0	0	0	1	1498	1045	37	1		1	BRCA1	17	41245760	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	423099	41245760	39949450	554	120945											
GOSR2	9570	broad.mit.edu	37	chr17	45016106	45016106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtggtcatgttcctcGtggtgcagtacctgacatga	12	10	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:45016106G>A	uc002ila.2	+	6	692	c.619G>A	c.(619-621)GTG>ATG	p.V207M	GOSR2_uc010wkh.1_Intron|GOSR2_uc002ikz.2_Intron	NM_004287	NP_004278	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2 isoform A	207	Helical; Anchor for type IV membrane protein; (Potential).				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(9;0.102)			CATGTTCCTCGTGGTGCAGTA	0.552													A	45016106	G	A	45016106	3	1	238	1	0	0	0	0	1	0	0	0	6578	1145	40	1	752	1	GOSR2	17	45016106	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3770346	45016106	36179104	555	120946											
OSBPL7	114881	broad.mit.edu	37	chr17	45891131	45891131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaggctcacgtcagccCcaggcccgctggccgccggc	12	20	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:45891131C>T	uc002ilx.1	-	15	1624	c.1421G>A	c.(1420-1422)GGG>GAG	p.G474E	OSBPL7_uc002ilw.1_Missense_Mutation_p.G36E	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	474					lipid transport		lipid binding				0						CACGTCAGCCCCAGGCCCGCT	0.657													T	45891131	C	T	45891131	3	4	238	1	0	0	0	0	1	0	0	0	11282	623	22	4	1143	4	OSBPL7	17	45891131	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	875025	45891131	35304079	556	120947											
GIP	2695	broad.mit.edu	37	chr17	47041735	47041735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgttggtgaatcttgtccAtggcaatactgtagtcactg	10	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:47041735A>G	uc002iol.1	-	3	292	c.194T>C	c.(193-195)ATG>ACG	p.M65T		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	65					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			skin(1)	1						AATCTTGTCCATGGCAATACT	0.542													G	47041735	A	G	47041735	3	3	238	1	0	0	0	0	1	0	0	0	6391	217	8	3	283	3	GIP	17	47041735	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	1150604	47041735	34153475	557	120948											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115628	47115628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggacctgagaatgggcGccgagggggctttggctctc	17	10	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:47115628G>A	uc002iom.2	+	6	834	c.500G>A	c.(499-501)CGC>CAC	p.R167H	IGF2BP1_uc010dbj.2_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	167					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			kidney(1)	1						GAGAATGGGCGCCGAGGGGGC	0.637													A	47115628	G	A	47115628	3	1	238	1	0	0	0	0	1	0	0	0	7573	1087	38	1	522	1	IGF2BP1	17	47115628	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	73893	47115628	34079582	558	120949											
C17orf71	55181	broad.mit.edu	37	chr17	57287463	57287463	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaatgggagcatcagcctgGatgggctctgaaagtcccgg	14	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:57287463G>A	uc002ixi.2	+	1	93	c.51G>A	c.(49-51)TGG>TGA	p.W17*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	17					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CATCAGCCTGGATGGGCTCTG	0.622													A	57287463	G	A	57287463	4	1	238	1	0	0	0	0	0	1	0	0	1878	1183	41	4	53	4	C17orf71	17	57287463	Nonsense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	10171835	57287463	23907747	559	120950											
GDPD1	284161	broad.mit.edu	37	chr17	57334502	57334502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgccagtgtgaaggaaaAgataaccgaattccattact	9	8	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:57334502A>C	uc002ixk.1	+	5	524	c.387A>C	c.(385-387)AAA>AAC	p.K129N	GDPD1_uc002ixj.2_Missense_Mutation_p.K129N	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	129	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTGAAGGAAAAGATAACCGAA	0.279													C	57334502	A	C	57334502	3	2	238	1	0	0	0	0	1	0	0	0	6323	69	3	5	405	5	GDPD1	17	57334502	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	47039	57334502	23860708	560	120951											
INTS2	57508	broad.mit.edu	37	chr17	59989372	59989372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtaaggcatctgtcctgcGccttcctccaagactttctt	8	14	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:59989372G>A	uc002izn.2	-	6	809	c.733C>T	c.(733-735)CGC>TGC	p.R245C	INTS2_uc002izm.2_Missense_Mutation_p.R237C	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	245					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TCTGTCCTGCGCCTTCCTCCA	0.428													A	59989372	G	A	59989372	3	1	238	1	0	0	0	0	1	0	0	0	7778	1087	38	1	2961	1	INTS2	17	59989372	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2654870	59989372	21205838	561	120952											
TLK2	11011	broad.mit.edu	37	chr17	60689890	60689890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggagctgctattgcatcAacctctggggcgtccaataa	11	11	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:60689890A>G	uc010ddp.2	+	23	2551	c.2283A>G	c.(2281-2283)TCA>TCG	p.S761S	TLK2_uc002izx.3_Silent_p.S587S|TLK2_uc002izz.3_Silent_p.S739S|TLK2_uc002jaa.3_Silent_p.S707S|TLK2_uc010wpd.1_Silent_p.S707S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	761					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			stomach(1)|kidney(1)	2						CTATTGCATCAACCTCTGGGG	0.507													G	60689890	A	G	60689890	2	3	238	1	0	0	0	0	0	0	0	1	15941	117	5	3		3	TLK2	17	60689890	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	700518	60689890	20505320	562	120953											
CACNG1	786	broad.mit.edu	37	chr17	65041002	65041002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcccatcaccctgcccGggggtaacgtacccaccctc	11	19	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:65041002G>A	uc002jfu.2	+	1	297	c.226G>A	c.(226-228)GGG>AGG	p.G76R		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	76					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	CACCCTGCCCGGGGGTAACGT	0.642													A	65041002	G	A	65041002	3	1	238	1	0	0	0	0	1	0	0	0	2556	1116	39	1	228	1	CACNG1	17	65041002	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4351112	65041002	16154208	563	120954											
SLC39A11	201266	broad.mit.edu	37	chr17	70645064	70645064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaggcaccaaagaccccGgccaggggctccaccatgcc	11	17	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:70645064G>A	uc002jjb.2	-	9	943	c.828C>T	c.(826-828)GCC>GCT	p.A276A	SLC39A11_uc002jja.2_Silent_p.A269A	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	276	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						CAAAGACCCCGGCCAGGGGCT	0.627													A	70645064	G	A	70645064	2	1	238	1	0	0	0	0	0	0	0	1	14614	1103	39	1		1	SLC39A11	17	70645064	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5604062	70645064	10550146	564	120955											
C17orf80	55028	broad.mit.edu	37	chr17	71232288	71232288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagtaaaattactagatGtgcctactggtgattgtcat	8	6	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:71232288G>A	uc002jjm.3	+	3	861	c.667G>A	c.(667-669)GTG>ATG	p.V223M	C17orf80_uc010wqu.1_Missense_Mutation_p.V223M|C17orf80_uc010dfj.2_Missense_Mutation_p.V223M|C17orf80_uc002jjk.1_Missense_Mutation_p.V223M|C17orf80_uc002jjl.3_Missense_Mutation_p.V223M	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	223	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			ATTACTAGATGTGCCTACTGG	0.383													A	71232288	G	A	71232288	3	1	238	1	0	0	0	0	1	0	0	0	1885	1377	48	4	669	4	C17orf80	17	71232288	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	587224	71232288	9962922	565	120956											
CD300LB	124599	broad.mit.edu	37	chr17	72527553	72527553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaatgcagatcccagaTgcactctggaagttctgcct	10	11	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:72527553T>C	uc002jkx.2	-	1	61	c.48A>G	c.(46-48)GCA>GCG	p.A16A	CD300LB_uc010wqz.1_Silent_p.A16A	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	Error:Variant_position_missing_in_A8K4G0_after_alignment						integral to membrane|plasma membrane	receptor activity			ovary(1)	1						AGATCCCAGATGCACTCTGGA	0.547													C	72527553	T	C	72527553	2	2	238	1	0	0	0	0	0	0	0	1	2999	1451	51	3		3	CD300LB	17	72527553	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1295265	72527553	8667657	566	120957											
SRP68	6730	broad.mit.edu	37	chr17	74042188	74042188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgctgtcatcctctggCtgctgctgcagcagagccct	11	15	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:74042188C>T	uc002jqk.1	-	11	1265	c.1230G>A	c.(1228-1230)CAG>CAA	p.Q410Q	SRP68_uc010wsu.1_Silent_p.Q309Q|SRP68_uc002jql.1_Silent_p.Q372Q|SRP68_uc002jqj.1_Silent_p.Q71Q	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	410					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						CATCCTCTGGCTGCTGCTGCA	0.562													T	74042188	C	T	74042188	2	4	238	1	0	0	0	0	0	0	0	1	15155	796	28	2		2	SRP68	17	74042188	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1514635	74042188	7153022	567	120958											
LGALS3BP	3959	broad.mit.edu	37	chr17	76968444	76968444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctccaggtgtccacGgccttcagtagggccagctc	11	17	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:76968444G>A	uc002jwh.2	-	6	1151	c.972C>T	c.(970-972)GCC>GCT	p.A324A	LGALS3BP_uc002jwi.2_Silent_p.A130A|LGALS3BP_uc010dhr.2_Silent_p.A130A	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	324	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGTCCACGGCCTTCAGTA	0.672													A	76968444	G	A	76968444	2	1	238	1	0	0	0	0	0	0	0	1	8744	1103	39	1		1	LGALS3BP	17	76968444	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2926256	76968444	4226766	568	120959											
ENGASE	64772	broad.mit.edu	37	chr17	77081752	77081752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctagacctcctcgtttGcttctcacggccgccgggta	11	15	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:77081752G>A	uc002jwv.2	+	13	1759	c.1751G>A	c.(1750-1752)TGC>TAC	p.C584Y	ENGASE_uc002jww.2_Missense_Mutation_p.C289Y	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	584						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						CTCCTCGTTTGCTTCTCACGG	0.657													A	77081752	G	A	77081752	3	1	238	1	0	0	0	0	1	0	0	0	5118	1319	46	2	1801	2	ENGASE	17	77081752	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	113308	77081752	4113458	569	120960											
GAA	2548	broad.mit.edu	37	chr17	78078703	78078703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaacagtgcgaggcccgCggctgttgctacatccctgc	13	14	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:78078703C>T	uc002jxo.2	+	3	500	c.318C>T	c.(316-318)CGC>CGT	p.R106R	GAA_uc002jxp.2_Silent_p.R106R|GAA_uc002jxq.2_Silent_p.R106R	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	106	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCGAGGCCCGCGGCTGTTGCT	0.657													T	78078703	C	T	78078703	2	4	238	1	0	0	0	0	0	0	0	1	6147	755	27	1		1	GAA	17	78078703	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	996951	78078703	3116507	570	120961											
ACTG1	71	broad.mit.edu	37	chr17	79478090	79478090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccacgtcacacttcaTgatggagttgaaggtggtct	12	8	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:79478090T>C	uc002kaj.1	-	4	872	c.847A>G	c.(847-849)ATG>GTG	p.M283V	ACTG1_uc002kah.1_Missense_Mutation_p.M161V|ACTG1_uc002kai.1_Missense_Mutation_p.M240V|ACTG1_uc002kak.1_Missense_Mutation_p.M283V|ACTG1_uc010wun.1_Missense_Mutation_p.M283V|ACTG1_uc002kal.1_Missense_Mutation_p.M283V|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	283					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TCACACTTCATGATGGAGTTG	0.562													C	79478090	T	C	79478090	3	2	238	1	0	0	0	0	1	0	0	0	196	1464	51	3	288	3	ACTG1	17	79478090	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	1399387	79478090	1717120	571	120962											
DUS1L	64118	broad.mit.edu	37	chr17	80019844	80019844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgctccttggtgcgtcCgtgcaccgtcagcaactagg	11	14	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:80019844C>T	uc002kdq.2	-	5	945	c.526G>A	c.(526-528)GGA>AGA	p.G176R	DUS1L_uc002kdp.2_Missense_Mutation_p.G45R|DUS1L_uc002kdr.2_Missense_Mutation_p.G176R|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.G159R	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	176					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	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)			TTGGTGCGTCCGTGCACCGTC	0.443													T	80019844	C	T	80019844	3	4	238	1	0	0	0	0	1	0	0	0	4805	661	23	1	931	1	DUS1L	17	80019844	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	541754	80019844	1175366	572	120963											
FOXK2	3607	broad.mit.edu	37	chr17	80477947	80477947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcggccgcaactcgtcGcagggctcggtggacgtgag	15	13	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr17:80477947G>A	uc002kfn.2	+	1	354	c.183G>A	c.(181-183)TCG>TCA	p.S61S	FOXK2_uc002kfm.1_Silent_p.S61S|FOXK2_uc010diu.2_Silent_p.S61S	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	61	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				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCAACTCGTCGCAGGGCTCGG	0.557													A	80477947	G	A	80477947	2	1	238	1	0	0	0	0	0	0	0	1	6015	1074	38	1		1	FOXK2	17	80477947	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	458103	80477947	717263	573	120964											
PTPRM	5797	broad.mit.edu	37	chr18	7888203	7888203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacacccactgcatcgattTtcactattttgtgtccagca	6	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:7888203T>G	uc002knn.3	+	3	799	c.296T>G	c.(295-297)TTT>TGT	p.F99C	PTPRM_uc010dkv.2_Missense_Mutation_p.F99C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	99	MAM.|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TGCATCGATTTTCACTATTTT	0.483													G	7888203	T	G	7888203	3	3	238	1	0	0	0	0	1	0	0	0	12806	1841	64	5	306	5	PTPRM	18	7888203	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08		7888203	70189045	574	120965											
PTPRM	5797	broad.mit.edu	37	chr18	8113535	8113535	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgaagaactaaaaagacGacagaaatcttaaagtgcta	7	8	1	3	rs151258957		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:8113535G>A	uc002knn.3	+	12	2411	c.1908G>A	c.(1906-1908)ACG>ACA	p.T636T	PTPRM_uc010dkv.2_Silent_p.T636T|PTPRM_uc010wzl.1_Silent_p.T423T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	636	Fibronectin type-III 4.|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CTAAAAAGACGACAGAAATCT	0.393													A	8113535	G	A	8113535	2	1	238	1	0	0	0	0	0	0	0	1	12806	1045	37	1		1	PTPRM	18	8113535	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	225332	8113535	69963713	575	120966											
CDH2	1000	broad.mit.edu	37	chr18	25573538	25573538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtggctgtgtttgaaaGgccatatgtgggattgcctt	15	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:25573538G>T	uc002kwg.2	-	8	1543	c.1084C>A	c.(1084-1086)CTT>ATT	p.L362I	CDH2_uc010xbn.1_Missense_Mutation_p.L331I	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	362	Extracellular (Potential).|Cadherin 2.				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			ovary(3)|lung(1)	4						GTGTTTGAAAGGCCATATGTG	0.413													T	25573538	G	T	25573538	3	4	238	1	0	0	0	0	1	0	0	0	3105	1000	35	5	1672	5	CDH2	18	25573538	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	17460003	25573538	52503710	576	120967											
DSG1	1828	broad.mit.edu	37	chr18	28935124	28935124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatgggtgctgggagcGgtgccctgagtggagctggc	19	10	0	1	rs145472309		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:28935124G>A	uc002kwp.2	+	15	3177	c.2965G>A	c.(2965-2967)GGT>AGT	p.G989S	DSG1_uc010xbp.1_Missense_Mutation_p.G348S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	989	Cytoplasmic (Potential).|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			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGCTGGGAGCGGTGCCCTGAG	0.597													A	28935124	G	A	28935124	3	1	238	1	0	0	0	0	1	0	0	0	4776	1116	39	1	3023	1	DSG1	18	28935124	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3361586	28935124	49142124	577	120968											
KLHL14	57565	broad.mit.edu	37	chr18	30260195	30260195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagccaaagtgtgaattgCacgttttgtgttcatatctt	8	7	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:30260195C>T	uc002kxm.1	-	7	1913	c.1525G>A	c.(1525-1527)GCA>ACA	p.A509T	KLHL14_uc010dmd.1_Missense_Mutation_p.A58T	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	509	Kelch 4.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GTGTGAATTGCACGTTTTGTG	0.378													T	30260195	C	T	30260195	3	4	238	1	0	0	0	0	1	0	0	0	8370	710	25	2	373	2	KLHL14	18	30260195	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1325071	30260195	47817053	578	120969											
KLHL14	57565	broad.mit.edu	37	chr18	30349901	30349901	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcagggcgcgcatctcctcGaagttgagcagcagcacatc	12	13	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:30349901G>A	uc002kxm.1	-	2	1042	c.654C>T	c.(652-654)TTC>TTT	p.F218F		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	218	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GCATCTCCTCGAAGTTGAGCA	0.642													A	30349901	G	A	30349901	2	1	238	1	0	0	0	0	0	0	0	1	8370	1049	37	1		1	KLHL14	18	30349901	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	89706	30349901	47727347	579	120970											
FHOD3	80206	broad.mit.edu	37	chr18	34298165	34298165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggtcccagaaacagcGccggtgcagccgaagacaga	13	12	0	3	rs149550373		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:34298165G>A	uc002kzt.1	+	15	2425	c.2328G>A	c.(2326-2328)GCG>GCA	p.A776A	FHOD3_uc002kzs.1_Silent_p.A793A|FHOD3_uc010dmz.1_Silent_p.A508A|FHOD3_uc010dna.1_Silent_p.A96A	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	776					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAGAAACAGCGCCGGTGCAGC	0.537													A	34298165	G	A	34298165	2	1	238	1	0	0	0	0	0	0	0	1	5883	1074	38	1		1	FHOD3	18	34298165	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	3948264	34298165	43779083	580	120971											
SMAD2	4087	broad.mit.edu	37	chr18	45371785	45371785	+	Frame_Shift_Del	DEL	A	A	-													gttagctgatagacggcttcAaaaccctgattaacagactg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:45371784_45371784CA>C	uc002lcy.3	-	9	1455	c.1207_1207TG>G	c.(1207-1209)gaafs	p.E403fs	SMAD2_uc002lcz.3_Frame_Shift_Del_p.E403fs|SMAD2_uc010xdc.2_Frame_Shift_Del_p.E373fs|SMAD2_uc010xdd.1_Frame_Shift_Del_p.E373fs	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	403	MH2.				SMAD protein complex assembly|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|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA 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						TAGACGGCTTCAAAACCCTGA	0.378													-	45371785	A	-	45371785	7	5	238	1	0	1	0	1	0	0	0	0	14758	127	5	0	205	0	SMAD2	18	45371785	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	11073620	45371785	32705463	581	120972											
SMAD2	4087	broad.mit.edu	37	chr18	45374871	45374871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttcttgtcatttctacCgtggcatttcggttaacatt	7	10	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:45374871C>T	uc002lcy.2	-	8	1220	c.972G>A	c.(970-972)ACG>ACA	p.T324T	SMAD2_uc002lcz.2_Silent_p.T324T|SMAD2_uc010xdc.1_Silent_p.T294T|SMAD2_uc010xdd.1_Silent_p.T294T	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	324	MH2.				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			large_intestine(3)|lung(1)|central_nervous_system(1)	5						TCATTTCTACCGTGGCATTTC	0.398													T	45374871	C	T	45374871	2	4	238	1	0	0	0	0	0	0	0	1	14758	639	23	1		1	SMAD2	18	45374871	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3086	45374871	32702377	582	120973											
SMAD2	4087	broad.mit.edu	37	chr18	45423026	45423026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccacttttcttcctgcccAttctgctctcctccgcctgc	4	20	3	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:45423026A>G	uc002lcy.2	-	2	350	c.102T>C	c.(100-102)AAT>AAC	p.N34N	SMAD2_uc002lcz.2_Silent_p.N34N|SMAD2_uc010xdc.1_Silent_p.N34N|SMAD2_uc010xdd.1_Silent_p.N34N	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	34	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			large_intestine(3)|lung(1)|central_nervous_system(1)	5						CTTCCTGCCCATTCTGCTCTC	0.512													G	45423026	A	G	45423026	2	3	238	1	0	0	0	0	0	0	0	1	14758	214	8	3		3	SMAD2	18	45423026	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	48155	45423026	32654222	583	120974											
WDR7	23335	broad.mit.edu	37	chr18	54424291	54424291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatgaagtttgcctggatCgccttggaatgctgaaaccc	12	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:54424291C>T	uc002lgk.1	+	15	2678	c.2467C>T	c.(2467-2469)CGC>TGC	p.R823C	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.R823C	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	823										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TTGCCTGGATCGCCTTGGAAT	0.473													T	54424291	C	T	54424291	3	4	238	1	0	0	0	0	1	0	0	0	17317	884	31	1	2521	1	WDR7	18	54424291	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	9001265	54424291	23652957	584	120975											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	238	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-F1-A448-01A-11D-A24D-08	2588994	57013285	21063963	585	120976											
CTDP1	9150	broad.mit.edu	37	chr18	77477994	77477994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagctccctacccatcCgccaggagccctcttccttc	5	22	1	0	rs148053048		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:77477994C>T	uc002lnh.1	+	10	2542	c.2395C>T	c.(2395-2397)CGC>TGC	p.R799C	CTDP1_uc002lni.1_Missense_Mutation_p.R799C|CTDP1_uc010drd.1_Missense_Mutation_p.R799C	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	799					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCTACCCATCCGCCAGGAGCC	0.667													T	77477994	C	T	77477994	3	4	238	1	0	0	0	0	1	0	0	0	4002	652	23	1	2433	1	CTDP1	18	77477994	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	20464709	77477994	599254	586	120977											
ADNP2	22850	broad.mit.edu	37	chr18	77896267	77896267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaggggccgaagaccagCggcatggggaggagcagcct	17	10	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr18:77896267C>T	uc002lnw.2	+	4	3426	c.2971C>T	c.(2971-2973)CGG>TGG	p.R991W		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	991					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CGAAGACCAGCGGCATGGGGA	0.507													T	77896267	C	T	77896267	3	4	238	1	0	0	0	0	1	0	0	0	324	759	27	1	2981	1	ADNP2	18	77896267	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	418273	77896267	180981	587	120978											
ZNF556	80032	broad.mit.edu	37	chr19	2877696	2877696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgtcccaaatcctttcGcgcacatgtgatgatgcacg	9	12	0	2	rs146297141		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:2877696G>A	uc002lwp.1	+	4	827	c.740G>A	c.(739-741)CGC>CAC	p.R247H	ZNF556_uc002lwq.2_Missense_Mutation_p.R246H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	247	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		AAATCCTTTCGCGCACATGTG	0.512													A	2877696	G	A	2877696	3	1	238	1	0	0	0	0	1	0	0	0	17984	1087	38	1	754	1	ZNF556	19	2877696	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		2877696	56251287	588	120979											
TLE2	7089	broad.mit.edu	37	chr19	3005804	3005804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttggcgtcggggctgaCggccagggcgtagcaggctg	18	11	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:3005804C>T	uc002lww.2	-	16	1926	c.1663G>A	c.(1663-1665)GTC>ATC	p.V555I	TLE2_uc010xhb.1_Missense_Mutation_p.V222I|TLE2_uc010dth.2_Missense_Mutation_p.V556I|TLE2_uc010xhc.1_Missense_Mutation_p.V433I|TLE2_uc010dti.2_Missense_Mutation_p.V569I	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	555	WD 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		TCGGGGCTGACGGCCAGGGCG	0.642													T	3005804	C	T	3005804	3	4	238	1	0	0	0	0	1	0	0	0	15936	536	19	1	588	1	TLE2	19	3005804	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	128108	3005804	56123179	589	120980											
PIP5K1C	23396	broad.mit.edu	37	chr19	3644089	3644089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctctgcccctcaccttcGtcctccagcgtggggtagct	10	18	2	0	rs147371549		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:3644089G>A	uc002lyj.1	-	12	1563	c.1506C>T	c.(1504-1506)GAC>GAT	p.D502D	PIP5K1C_uc010xhq.1_Silent_p.D502D|PIP5K1C_uc010xhr.1_Silent_p.D502D	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	502					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		CCTCACCTTCGTCCTCCAGCG	0.716													A	3644089	G	A	3644089	2	1	238	1	0	0	0	0	0	0	0	1	11941	1136	40	1		1	PIP5K1C	19	3644089	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	638285	3644089	55484894	590	120981											
UBXN6	80700	broad.mit.edu	37	chr19	4445559	4445559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtccggctcggcccccGcggccttgatgtcctccagc	13	17	0	1	rs77077573	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:4445559G>A	uc002man.1	-	11	1358	c.1262C>T	c.(1261-1263)GCG>GTG	p.A421V	UBXN6_uc010dty.1_Missense_Mutation_p.A325V|UBXN6_uc002mam.1_Missense_Mutation_p.A368V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	421						microtubule organizing center|nucleus	protein binding				0						CTCGGCCCCCGCGGCCTTGAT	0.622													A	4445559	G	A	4445559	3	1	238	1	0	0	0	0	1	0	0	0	16914	1087	38	1	67	1	UBXN6	19	4445559	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	801470	4445559	54683424	591	120982											
DUS3L	56931	broad.mit.edu	37	chr19	5785223	5785223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcctgaggctacttgtaCgcgttggccttgtgcttcgg	13	10	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:5785223C>T	uc002mdc.2	-	13	2041	c.1944G>A	c.(1942-1944)GCG>GCA	p.A648A	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.A406A	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	648					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GCTACTTGTACGCGTTGGCCT	0.567													T	5785223	C	T	5785223	2	4	238	1	0	0	0	0	0	0	0	1	4807	523	19	1		1	DUS3L	19	5785223	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1339664	5785223	53343760	592	120983											
FUT6	2528	broad.mit.edu	37	chr19	5832172	5832172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggcttggggactccAtgctgaaccagatccatcgc	12	12	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:5832172A>G	uc002mdf.1	-	4	933	c.407T>C	c.(406-408)ATG>ACG	p.M136T	FUT6_uc002mdg.1_Missense_Mutation_p.M136T|FUT6_uc002mdh.1_Missense_Mutation_p.M136T|FUT6_uc010dul.1_Missense_Mutation_p.M136T	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	136	Lumenal (Potential).				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				0						TGGGGACTCCATGCTGAACCA	0.622													G	5832172	A	G	5832172	3	3	238	1	0	0	0	0	1	0	0	0	6108	217	8	3	676	3	FUT6	19	5832172	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	46949	5832172	53296811	593	120984											
VAV1	7409	broad.mit.edu	37	chr19	6833624	6833624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtccctccatgtggcCgacatgggcaaggtacgagt	16	10	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:6833624C>A	uc002mfu.1	+	17	1793	c.1696C>A	c.(1696-1698)CGA>AGA	p.R566R	VAV1_uc010xjh.1_Silent_p.R534R|VAV1_uc010dva.1_Silent_p.R566R|VAV1_uc002mfv.1_Silent_p.R511R	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	566					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			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						TCCATGTGGCCGACATGGGCA	0.577													A	6833624	C	A	6833624	2	1	238	1	0	0	0	0	0	0	0	1	17128	644	23	5		5	VAV1	19	6833624	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1001452	6833624	52295359	594	120985											
ADAMTS10	81794	broad.mit.edu	37	chr19	8656934	8656934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacggcccccaggctccGtccacaccctctgggcgcga	11	20	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:8656934G>A	uc002mkj.1	-	14	1915	c.1641C>T	c.(1639-1641)GAC>GAT	p.D547D	ADAMTS10_uc002mki.1_Missense_Mutation_p.T38M|ADAMTS10_uc002mkk.1_Silent_p.D179D	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	547	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CCCAGGCTCCGTCCACACCCT	0.682													A	8656934	G	A	8656934	2	1	238	1	0	0	0	0	0	0	0	1	256	1136	40	1		1	ADAMTS10	19	8656934	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1823310	8656934	50472049	595	120986											
OR7G2	390882	broad.mit.edu	37	chr19	9213528	9213528	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggttcatgatgactgtgtatCtaagggggtgacaaatggcc	14	6	2	3	rs150795037	byFrequency	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:9213528C>A	uc010xkk.1	-	1	455	c.455G>T	c.(454-456)AGA>ATA	p.R152I		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GACTGTGTATCTAAGGGGGTG	0.493													A	9213528	C	A	9213528	3	1	238	1	0	0	0	0	1	0	0	0	11223	913	32	5	584	5	OR7G2	19	9213528	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	556594	9213528	49915455	596	120987											
ATG4D	84971	broad.mit.edu	37	chr19	10662783	10662783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggatgtcagccaggccGacttccccctggaggtgagt	14	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:10662783G>A	uc002mov.2	+	8	1228	c.1108G>A	c.(1108-1110)GAC>AAC	p.D370N	ATG4D_uc010xlh.1_Missense_Mutation_p.D307N|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.D37N|MIR1238_hsa-mir-1238|MI0006328_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	370					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGCCAGGCCGACTTCCCCCT	0.542													A	10662783	G	A	10662783	3	1	238	1	0	0	0	0	1	0	0	0	1099	1058	37	1	1138	1	ATG4D	19	10662783	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1449255	10662783	48466200	597	120988											
KRI1	65095	broad.mit.edu	37	chr19	10664749	10664749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaactcgcatccaccaaGcatcacagtggggcccagca	10	15	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:10664749G>A	uc002moy.1	-	19	2017	c.2008C>T	c.(2008-2010)CTT>TTT	p.L670F	KRI1_uc002mow.1_Missense_Mutation_p.L289F|KRI1_uc002mox.1_Missense_Mutation_p.L666F	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	670										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CATCCACCAAGCATCACAGTG	0.637													A	10664749	G	A	10664749	3	1	238	1	0	0	0	0	1	0	0	0	8444	971	34	2	125	2	KRI1	19	10664749	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1966	10664749	48464234	598	120989											
CARM1	10498	broad.mit.edu	37	chr19	11032110	11032110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccataatgagcacggggAttgtccaaggtaacgagggt	14	8	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11032110A>G	uc002mpz.2	+	15	1801	c.1675A>G	c.(1675-1677)ATT>GTT	p.I559V	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Intron	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	559	Transactivation domain (By similarity).				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				0						GAGCACGGGGATTGTCCAAGG	0.657													G	11032110	A	G	11032110	3	3	238	1	0	0	0	0	1	0	0	0	2655	333	12	3	1733	3	CARM1	19	11032110	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	367361	11032110	48096873	599	120990											
SMARCA4	6597	broad.mit.edu	37	chr19	11129651	11129651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacgctgtccaactgggcGtacgagtttgacaagtgggc	14	9	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11129651G>A	uc002mqf.3	+	17	2741	c.2457G>A	c.(2455-2457)GCG>GCA	p.A819A	SMARCA4_uc010dxp.2_Silent_p.A819A|SMARCA4_uc010dxo.2_Silent_p.A819A|SMARCA4_uc002mqg.1_Silent_p.A819A|SMARCA4_uc010dxq.2_Silent_p.A819A|SMARCA4_uc010dxr.2_Silent_p.A819A|SMARCA4_uc002mqj.3_Silent_p.A819A|SMARCA4_uc010dxs.2_Silent_p.A819A|SMARCA4_uc010dxt.1_Silent_p.A39A|SMARCA4_uc002mqh.3_5'Flank|SMARCA4_uc002mqi.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	819	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.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCAACTGGGCGTACGAGTTTG	0.552			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11129651	G	A	11129651	2	1	238	1	0	0	0	0	0	0	0	1	14770	1132	40	1		1	SMARCA4	19	11129651	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	97541	11129651	47999332	600	120991											
KANK2	25959	broad.mit.edu	37	chr19	11287378	11287378	+	Frame_Shift_Del	DEL	G	G	-													cgtccctgcaggcctgagctGgggggcttcggccacactcg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11287377_11287377TG>T	uc002mqm.3	-	4	1740	c.1661_1661CA>A	c.(1660-1662)cagfs	p.Q554fs	KANK2_uc021upe.1_Frame_Shift_Del_p.Q546fs|KANK2_uc002mqo.4_Frame_Shift_Del_p.Q546fs|KANK2_uc002mqp.1_Frame_Shift_Del_p.Q355fs	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	546								p.A554V(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGCCTGAGCTGGGGGGCTTC	0.632													-	11287378	G	-	11287378	7	5	238	1	0	1	0	1	0	0	0	0	7977	1357	47	0	947	0	KANK2	19	11287378	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	157727	11287378	47841605	601	120992											
PRKCSH	5589	broad.mit.edu	37	chr19	11557919	11557919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggacacacagacagacGccacctctttctacgaccgc	10	15	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:11557919G>A	uc002mrt.2	+	10	1129	c.793G>A	c.(793-795)GCC>ACC	p.A265T	PRKCSH_uc002mru.2_Missense_Mutation_p.A265T|PRKCSH_uc010xlz.1_Missense_Mutation_p.A265T|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Missense_Mutation_p.A265T|PRKCSH_uc010dyb.2_Missense_Mutation_p.A265T	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	265	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						ACAGACAGACGCCACCTCTTT	0.642											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	11557919	G	A	11557919	3	1	238	1	0	0	0	0	1	0	0	0	12516	1087	38	1	827	1	PRKCSH	19	11557919	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	270541	11557919	47571064	602	120993											
ZSWIM4	65249	broad.mit.edu	37	chr19	13930229	13930229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcgtgcccatgcacacCtgtgcccgctacctgttcac	10	16	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:13930229C>T	uc002mxh.1	+	9	1821	c.1632C>T	c.(1630-1632)ACC>ACT	p.T544T	ZSWIM4_uc010xng.1_Silent_p.T467T	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	544							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCATGCACACCTGTGCCCGCT	0.647													T	13930229	C	T	13930229	2	4	238	1	0	0	0	0	0	0	0	1	18240	668	24	4		4	ZSWIM4	19	13930229	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2372310	13930229	45198754	603	120994											
RFX1	5989	broad.mit.edu	37	chr19	14088816	14088816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttacatggcactggccGtgtagctggcatcgccgccc	11	15	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:14088816G>A	uc002mxv.2	-	8	1189	c.917C>T	c.(916-918)ACG>ATG	p.T306M	RFX1_uc010dzi.2_Missense_Mutation_p.T306M	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	306					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGCACTGGCCGTGTAGCTGGC	0.657													A	14088816	G	A	14088816	3	1	238	1	0	0	0	0	1	0	0	0	13262	1145	40	1	2078	1	RFX1	19	14088816	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	158587	14088816	45040167	604	120995											
CYP4F2	8529	broad.mit.edu	37	chr19	15997110	15997110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagataacttcttcccGtcttcatcctggagagaagg	8	11	5	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:15997110G>A	uc002nbs.1	-	8	977	c.927C>T	c.(925-927)GAC>GAT	p.D309D	CYP4F2_uc010xot.1_Silent_p.D160D|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	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			ovary(1)|skin(1)	2						ACTTCTTCCCGTCTTCATCCT	0.532													A	15997110	G	A	15997110	2	1	238	1	0	0	0	0	0	0	0	1	4188	1136	40	1		1	CYP4F2	19	15997110	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1908294	15997110	43131873	605	120996											
AP1M1	8907	broad.mit.edu	37	chr19	16319980	16319980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacgtcatcgagtctgtcAacctcttggtaggcctcttt	10	11	5	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:16319980A>G	uc002ndu.2	+	5	711	c.538A>G	c.(538-540)AAC>GAC	p.N180D	AP1M1_uc002ndv.2_Missense_Mutation_p.N180D|AP1M1_uc010xpd.1_Missense_Mutation_p.N180D	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	180	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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			ovary(3)|breast(1)	4						CGAGTCTGTCAACCTCTTGGT	0.512													G	16319980	A	G	16319980	3	3	238	1	0	0	0	0	1	0	0	0	734	130	5	3	556	3	AP1M1	19	16319980	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	322870	16319980	42809003	606	120997											
ARMC6	93436	broad.mit.edu	37	chr19	19162758	19162758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgggatccgctgtgtgCgtcacgcttgcctgaaacat	12	12	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:19162758C>T	uc002nld.2	+	5	955	c.607C>T	c.(607-609)CGT>TGT	p.R203C	ARMC6_uc002nlc.2_Missense_Mutation_p.R178C|ARMC6_uc010xql.1_Missense_Mutation_p.R110C|ARMC6_uc002nle.2_Missense_Mutation_p.R178C|ARMC6_uc010xqm.1_Missense_Mutation_p.R203C	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	203							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCGCTGTGTGCGTCACGCTTG	0.607													T	19162758	C	T	19162758	3	4	238	1	0	0	0	0	1	0	0	0	955	768	27	1	542	1	ARMC6	19	19162758	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2842778	19162758	39966225	607	120998											
ZNF486	90649	broad.mit.edu	37	chr19	20308120	20308120	+	Frame_Shift_Del	DEL	A	A	-													cctcaacccatactacacatAaaaaaattgatactggagag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:20308119_20308119TA>T	uc002nou.2	+	3	657	c.600_600TA>T	c.(598-600)catfs	p.H200fs		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	200					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						ATACTACACATAAAAAAATTG	0.343													-	20308120	A	-	20308120	7	5	238	1	0	1	0	1	0	0	0	0	17936	363	13	0	615	0	ZNF486	19	20308120	Frame_Shift_Del	DEL	A	TCGA-F1-A448-01A-11D-A24D-08	1145362	20308120	38820863	608	120999											
CD22	933	broad.mit.edu	37	chr19	35823533	35823533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcctgggagggggcctgcGtctggatcccctgcacctac	14	15	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:35823533G>A	uc010edt.2	+	3	195	c.118G>A	c.(118-120)GTC>ATC	p.V40I	CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.V40I|CD22_uc010edv.2_Missense_Mutation_p.V40I|CD22_uc002nzb.3_Missense_Mutation_p.V40I	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	40	Extracellular (Potential).|Ig-like V-type.				cell adhesion		protein binding|sugar binding	p.V40V(1)		ovary(5)|lung(3)|breast(1)	9	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)	GGGGGCCTGCGTCTGGATCCC	0.502													A	35823533	G	A	35823533	3	1	238	1	0	0	0	0	1	0	0	0	2985	1145	40	1	124	1	CD22	19	35823533	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	15515413	35823533	23305450	609	121000											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-													cctagcagatgtggctcctaCccccccaaagacccctgccc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36210764	C	-	36210764	7	5	238	1	0	1	0	1	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Del	DEL	C	TCGA-F1-A448-01A-11D-A24D-08	387231	36210764	22918219	610	121001											
MLL4	9757	broad.mit.edu	37	chr19	36229428	36229428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgccctgcaactgtggCgccaagcgctgccgtcggtt	13	14	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:36229428C>T	uc010eei.2	+	38	8118	c.8118C>T	c.(8116-8118)GGC>GGT	p.G2706G		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2706	Post-SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAACTGTGGCGCCAAGCGCT	0.637													T	36229428	C	T	36229428	2	4	238	1	0	0	0	0	0	0	0	1	9623	755	27	1		1	MLL4	19	36229428	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	18664	36229428	22899555	611	121002											
PRODH2	58510	broad.mit.edu	37	chr19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtactggtcagcgccGtcaccttcagctgcatgagg	13	13	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:36303061G>A	uc002obx.1	-	4	731	c.713C>T	c.(712-714)ACG>ATG	p.T238M		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	238					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCAGCGCCGTCACCTTCAG	0.687													A	36303061	G	A	36303061	3	1	238	1	0	0	0	0	1	0	0	0	12549	1145	40	1	929	1	PRODH2	19	36303061	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	73633	36303061	22825922	612	121003											
RYR1	6261	broad.mit.edu	37	chr19	39052022	39052022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcatcgagatcatgggCgcgtcacgccgcatcgagcg	15	14	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:39052022C>T	uc002oit.2	+	90	12682	c.12552C>T	c.(12550-12552)GGC>GGT	p.G4184G	RYR1_uc002oiu.2_Silent_p.G4179G|RYR1_uc002oiv.1_Silent_p.G1093G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4184					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGATCATGGGCGCGTCACGCC	0.642													T	39052022	C	T	39052022	2	4	238	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	39052022	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	2748961	39052022	20076961	613	121004											
PAPL	390928	broad.mit.edu	37	chr19	39597685	39597685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggctgcacatcctcaaCgggacccacatccacatcca	7	18	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:39597685C>T	uc002oki.2	+	12	1486	c.1212C>T	c.(1210-1212)AAC>AAT	p.N404N	PAPL_uc010egl.2_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	404						extracellular region	acid phosphatase activity|metal ion binding				0						ACATCCTCAACGGGACCCACA	0.627													T	39597685	C	T	39597685	2	4	238	1	0	0	0	0	0	0	0	1	11427	535	19	1		1	PAPL	19	39597685	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	545663	39597685	19531298	614	121005											
SUPT5H	6829	broad.mit.edu	37	chr19	39962069	39962069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaaggacaaccgctttGctgtggccttggactcagag	14	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:39962069G>A	uc002olo.3	+	19	1929	c.1750G>A	c.(1750-1752)GCT>ACT	p.A584T	SUPT5H_uc002olp.3_Missense_Mutation_p.A584T|SUPT5H_uc002olq.3_Missense_Mutation_p.A580T|SUPT5H_uc002oln.3_Missense_Mutation_p.A584T|SUPT5H_uc002olr.3_Missense_Mutation_p.A584T|SUPT5H_uc002ols.1_Missense_Mutation_p.A207T|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	584					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACCGCTTTGCTGTGGCCTT	0.532													A	39962069	G	A	39962069	3	1	238	1	0	0	0	0	1	0	0	0	15396	1319	46	2	1820	2	SUPT5H	19	39962069	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	364384	39962069	19166914	615	121006											
PLD3	23646	broad.mit.edu	37	chr19	40883977	40883977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgggaggggcggcctgcGgagccagctggaggccattt	19	9	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:40883977G>A	uc002onm.3	+	13	1768	c.1370G>A	c.(1369-1371)CGG>CAG	p.R457Q	PLD3_uc002onj.3_Missense_Mutation_p.R457Q|PLD3_uc002onk.3_Missense_Mutation_p.R457Q|PLD3_uc002onl.3_Missense_Mutation_p.R457Q|PLD3_uc002onn.2_Missense_Mutation_p.R457Q	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	457	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGCGGCCTGCGGAGCCAGCTG	0.632													A	40883977	G	A	40883977	3	1	238	1	0	0	0	0	1	0	0	0	12047	1116	39	1	1412	1	PLD3	19	40883977	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	921908	40883977	18245006	616	121007											
PSG6	5675	broad.mit.edu	37	chr19	43411907	43411907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttagccaccaaatgtagGtgtagttccgactcttaggt	9	9	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:43411907G>A	uc002ovj.1	-	4	858	c.806C>T	c.(805-807)ACC>ATC	p.T269I	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.T276I|PSG6_uc002ovi.2_Missense_Mutation_p.T270I|PSG6_uc010xwk.1_Missense_Mutation_p.T109I|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.T59I|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.T269I	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	269	Ig-like C2-type 2.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				CCAAATGTAGGTGTAGTTCCG	0.493													A	43411907	G	A	43411907	3	1	238	1	0	0	0	0	1	0	0	0	12659	1261	44	4	552	4	PSG6	19	43411907	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2527930	43411907	15717076	617	121008											
ZNF235	9310	broad.mit.edu	37	chr19	44792273	44792273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgagctacaactaaagcGtttaccacaatccccacatt	4	12	0	1	rs142725667		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:44792273G>A	uc002oza.3	-	5	1418	c.1315C>T	c.(1315-1317)CGC>TGC	p.R439C	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.R435C|ZNF235_uc010xwx.1_Missense_Mutation_p.R353C	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	439	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R439C(1)		ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CAACTAAAGCGTTTACCACAA	0.423													A	44792273	G	A	44792273	3	1	238	1	0	0	0	0	1	0	0	0	17785	1145	40	1	905	1	ZNF235	19	44792273	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1380366	44792273	14336710	618	121009											
RELB	5971	broad.mit.edu	37	chr19	45540998	45540998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttccccaatcattaccgcGaggcggcctttgggggcggc	14	13	1	0	rs61735620		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:45540998G>A	uc002paj.1	+	13	1816	c.1690G>A	c.(1690-1692)GAG>AAG	p.E564K	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	564						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCATTACCGCGAGGCGGCCTT	0.692													A	45540998	G	A	45540998	3	1	238	1	0	0	0	0	1	0	0	0	13217	1059	37	1	1728	1	RELB	19	45540998	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	748725	45540998	13587985	619	121010											
NOVA2	4858	broad.mit.edu	37	chr19	46443203	46443203	+	Missense_Mutation	SNP	G	G	A													tgaggtattgagcggcttgcGtggccgcggggctgcccgtg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:46443203G>A	uc002pdv.2	-	4	1445	c.1397C>T	c.(1396-1398)ACG>ATG	p.T466M		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	466	KH 3.					nucleus	RNA binding				0		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)		AGCGGCTTGCGTGGCCGCGGG	0.652													A	46443203	G	A	46443203	3	1	238	1	0	0	0	0	1	0	0	0	10555	1145	40	1	85	1	NOVA2	19	46443203	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	902205	46443203	12685780	620	121011	619	2									
NOVA2	4858	broad.mit.edu	37	chr19	46443210	46443210	+	Missense_Mutation	SNP	C	C	T													ttgagcggcttgcgtggccgCggggctgcccgtgatggtga							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:46443210C>T	uc002pdv.2	-	4	1438	c.1390G>A	c.(1390-1392)GCG>ACG	p.A464T		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	464	KH 3.					nucleus	RNA binding				0		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)		TGCGTGGCCGCGGGGCTGCCC	0.652													T	46443210	C	T	46443210	3	4	238	1	0	0	0	0	1	0	0	0	10555	768	27	1	92	1	NOVA2	19	46443210	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	7	46443210	12685773	621	121012	619	2									
GPR77	27202	broad.mit.edu	37	chr19	47844864	47844864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcactcctggccagggccCtgcgggctgaacccctcatc	11	19	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:47844864C>A	uc010ela.1	+	2	1026	c.808C>A	c.(808-810)CTG>ATG	p.L270M	GPR77_uc002pgk.1_Missense_Mutation_p.L270M	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	270	Extracellular (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GGCCAGGGCCCTGCGGGCTGA	0.637													A	47844864	C	A	47844864	3	1	238	1	0	0	0	0	1	0	0	0	6709	680	24	5	810	5	GPR77	19	47844864	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1401654	47844864	11284119	622	121013											
CRX	1406	broad.mit.edu	37	chr19	48342889	48342889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccgtctctgacctccGccccctatgccatgacctac	8	19	1	2	rs142111462		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:48342889G>A	uc002phq.3	+	4	769	c.565G>A	c.(565-567)GCC>ACC	p.A189T		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	189					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-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;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTGACCTCCGCCCCCTATGC	0.667													A	48342889	G	A	48342889	3	1	238	1	0	0	0	0	1	0	0	0	3902	1087	38	1	575	1	CRX	19	48342889	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	498025	48342889	10786094	623	121014											
RASIP1	54922	broad.mit.edu	37	chr19	49224207	49224207	+	Frame_Shift_Del	DEL	G	G	-													gcgcaggcgcgagctccccaGggggaggatgaggggcgggt							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:49224206_49224206AG>A	uc002pki.3	-	11	2938	c.2741_2741CT>T	c.(2740-2742)ctgfs	p.L914fs	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.3_Frame_Shift_Del_p.L175fs	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	914					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)		CGAGCTCCCCAGGGGGAGGAT	0.642													-	49224207	G	-	49224207	7	5	238	1	0	1	0	1	0	0	0	0	13078	991	35	0	155	0	RASIP1	19	49224207	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	881318	49224207	9904776	624	121015											
TEAD2	8463	broad.mit.edu	37	chr19	49845794	49845794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtactcgcacatgggCgagcgcagcaggcggtacac	14	13	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:49845794C>T	uc002pnj.2	-	11	1222	c.1131G>A	c.(1129-1131)TCG>TCA	p.S377S	uc002pnb.1_5'Flank|TEAD2_uc002png.2_Silent_p.S380S|TEAD2_uc002pnh.2_Silent_p.S381S|TEAD2_uc002pni.2_Silent_p.S380S|TEAD2_uc010yao.1_Silent_p.S249S|TEAD2_uc010emw.2_Silent_p.S380S	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	377	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		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)		CGCACATGGGCGAGCGCAGCA	0.572													T	49845794	C	T	49845794	2	4	238	1	0	0	0	0	0	0	0	1	15736	755	27	1		1	TEAD2	19	49845794	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	621587	49845794	9283189	625	121016											
TEAD2	8463	broad.mit.edu	37	chr19	49846583	49846583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatactggctgctcactcCgtagaagccaccactgctga	8	15	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:49846583C>T	uc002pnj.2	-	10	1073	c.982G>A	c.(982-984)GGA>AGA	p.G328R	TEAD2_uc002png.2_Missense_Mutation_p.G331R|TEAD2_uc002pnh.2_Missense_Mutation_p.G332R|TEAD2_uc002pni.2_Missense_Mutation_p.G331R|TEAD2_uc010yao.1_Missense_Mutation_p.G200R|TEAD2_uc010emw.2_Missense_Mutation_p.G331R	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	328	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		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)		CTGCTCACTCCGTAGAAGCCA	0.602													T	49846583	C	T	49846583	3	4	238	1	0	0	0	0	1	0	0	0	15736	661	23	1	373	1	TEAD2	19	49846583	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	789	49846583	9282400	626	121017											
SIGLEC5	8778	broad.mit.edu	37	chr19	52131128	52131128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttgcaggaagcccagcGggtgctgagcgcggcaggtg	17	9	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:52131128G>A	uc002pxe.2	-	5	1095	c.956C>T	c.(955-957)CCG>CTG	p.P319L		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	319	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAAGCCCAGCGGGTGCTGAGC	0.562													A	52131128	G	A	52131128	3	1	238	1	0	0	0	0	1	0	0	0	14311	1116	39	1	719	1	SIGLEC5	19	52131128	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2284545	52131128	6997855	627	121018											
ZNF432	9668	broad.mit.edu	37	chr19	52537083	52537083	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcctgtatgagttcGttgatgaacaattagacggc	9	8	1	4	rs74347014	by1000genomes	TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:52537083G>A	uc002pyk.2	-	5	2167	c.1849C>T	c.(1849-1851)CGA>TGA	p.R617*		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	617	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GTATGAGTTCGTTGATGAACA	0.383													A	52537083	G	A	52537083	4	1	238	1	0	0	0	0	0	1	0	0	17903	1153	40	1	113	1	ZNF432	19	52537083	Nonsense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	405955	52537083	6591900	628	121019											
ZNF468	90333	broad.mit.edu	37	chr19	53344480	53344480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcattacatGtgtaaggtttctctccagtg	7	10	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:53344480G>A	uc002qaf.2	-	4	1218	c.1067C>T	c.(1066-1068)ACA>ATA	p.T356I	ZNF468_uc002qae.2_Missense_Mutation_p.T303I	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	356	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		TTCATTACATGTGTAAGGTTT	0.383													A	53344480	G	A	53344480	3	1	238	1	0	0	0	0	1	0	0	0	17925	1377	48	4	505	4	ZNF468	19	53344480	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	807397	53344480	5784503	629	121020											
NLRP12	91662	broad.mit.edu	37	chr19	54312973	54312973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagaacgaggagaccatgTgctccatcttggaggcaatg	13	9	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54312973T>C	uc002qch.3	-	3	2160	c.1940A>G	c.(1939-1941)CAC>CGC	p.H647R	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.H647R|NLRP12_uc002qcj.3_Missense_Mutation_p.H647R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.H647R	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	647					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			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGAGACCATGTGCTCCATCTT	0.602													C	54312973	T	C	54312973	3	2	238	1	0	0	0	0	1	0	0	0	10474	1696	59	3	1373	3	NLRP12	19	54312973	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	968493	54312973	4816010	630	121021											
VSTM1	284415	broad.mit.edu	37	chr19	54561663	54561663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccttaggcttcaggtcCgtgaaggggaattcagcttc	12	10	2	1	rs139186362		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54561663C>T	uc002qcw.3	-	3	428	c.252G>A	c.(250-252)ACG>ACA	p.T84T	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.T84T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	84	Ig-like V-type.					integral to membrane					0	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)		GCTTCAGGTCCGTGAAGGGGA	0.517													T	54561663	C	T	54561663	2	4	238	1	0	0	0	0	0	0	0	1	17225	639	23	1		1	VSTM1	19	54561663	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	248690	54561663	4567320	631	121022											
LENG1	79165	broad.mit.edu	37	chr19	54660730	54660730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcactctggcccaggtAtgtcaggatgcccagagctt	12	13	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54660730A>G	uc002qdm.2	-	3	359	c.346T>C	c.(346-348)TAC>CAC	p.Y116H		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	116										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGCCCAGGTATGTCAGGATG	0.602													G	54660730	A	G	54660730	3	3	238	1	0	0	0	0	1	0	0	0	8723	449	16	3	456	3	LENG1	19	54660730	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	99067	54660730	4468253	632	121023											
LENG8	114823	broad.mit.edu	37	chr19	54969327	54969327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagacgcagctcaagtcgCtgtacgccgagaacttgcct	11	14	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:54969327C>A	uc002qfv.1	+	13	1981	c.1837C>A	c.(1837-1839)CTG>ATG	p.L613M	LENG8_uc002qfw.2_Missense_Mutation_p.L650M			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	613							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCTCAAGTCGCTGTACGCCGA	0.577													A	54969327	C	A	54969327	3	1	238	1	0	0	0	0	1	0	0	0	8724	796	28	5	1998	5	LENG8	19	54969327	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	308597	54969327	4159656	633	121024											
KIR2DL3	3804	broad.mit.edu	37	chr19	55263160	55263160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcatcatcctcttcatcCtcctcctcttctttctcctt	2	17	7	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:55263160C>A	uc002qgv.2	+	6	793	c.775C>A	c.(775-777)CTC>ATC	p.L259I	KIR2DL3_uc002qgx.2_Missense_Mutation_p.L259I|KIR2DL3_uc002qgy.2_Missense_Mutation_p.L161I|KIR2DL3_uc010erw.1_Missense_Mutation_p.L259I|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	259	Helical; (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		cctcttcatcctcctcctctt	0.408													A	55263160	C	A	55263160	3	1	238	1	0	0	0	0	1	0	0	0	8317	681	24	5	797	5	KIR2DL3	19	55263160	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	293833	55263160	3865823	634	121025											
KIR3DL1	3811	broad.mit.edu	37	chr19	55329853	55329853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgactcttcggtgtcactatCgtcataggtttaacaatttc	7	9	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:55329853C>T	uc002qhk.3	+	3	217	c.154C>T	c.(154-156)CGT>TGT	p.R52C	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.R52C	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	52	Extracellular (Potential).|Ig-like C2-type 1.				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GTGTCACTATCGTCATAGGTT	0.517													T	55329853	C	T	55329853	3	4	238	1	0	0	0	0	1	0	0	0	8320	884	31	1	164	1	KIR3DL1	19	55329853	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	66693	55329853	3799130	635	121026											
TNNT1	7138	broad.mit.edu	37	chr19	55648520	55648520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccagaggcttcttacgctCggagaggatgcgcaccttca	12	12	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr19:55648520C>T	uc002qjb.3	-	11	651	c.562G>A	c.(562-564)GAG>AAG	p.E188K	TNNT1_uc002qiz.3_Missense_Mutation_p.E118K|TNNT1_uc002qja.3_Missense_Mutation_p.E118K|TNNT1_uc002qjc.3_Missense_Mutation_p.E188K|TNNT1_uc002qje.3_Missense_Mutation_p.E177K|TNNT1_uc002qjd.3_Missense_Mutation_p.E177K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	188					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TTCTTACGCTCGGAGAGGATG	0.637													T	55648520	C	T	55648520	3	4	238	1	0	0	0	0	1	0	0	0	16327	893	31	1	290	1	TNNT1	19	55648520	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	318667	55648520	3480463	636	121027											
FERMT1	55612	broad.mit.edu	37	chr20	6057881	6057881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgtttcattctggtccTtggagcgggtggacaagaaa	14	7	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:6057881T>C	uc002wmr.2	-	15	2762	c.1973A>G	c.(1972-1974)AAG>AGG	p.K658R	FERMT1_uc002wmq.2_Missense_Mutation_p.K211R|FERMT1_uc010gbt.2_Missense_Mutation_p.K401R	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	658					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						ATTCTGGTCCTTGGAGCGGGT	0.502											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	6057881	T	C	6057881	3	2	238	1	0	0	0	0	1	0	0	0	5817	1609	56	3	64	3	FERMT1	20	6057881	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08		6057881	56967639	637	121028											
RIN2	54453	broad.mit.edu	37	chr20	19956092	19956093	+	Frame_Shift_Ins	INS	-	-	C													tgaccaagagaccatggcgcINScccccatcaagtccaaaaag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:19956091_19956092G>GC	uc002wro.2	+	7	1718_1719	c.1569_1570G>GC	c.(1567-1572)gcgcccfs	p.A523fs	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Frame_Shift_Ins_p.A268fs	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	474					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGACCATGGCGCCCCCCATCAA	0.589													C	19956093	-	C	19956092	7	5	238	1	0	1	1	0	0	0	0	0	13372	739	26	0	1449	0	RIN2	20	19956092	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	13898211	19956092	43069428	638	121029											
THBD	7056	broad.mit.edu	37	chr20	23028939	23028939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaacatctggcacctgtgCggctcgtggggaatgggcgc	15	11	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:23028939C>T	uc002wss.2	-	1	1363	c.1203G>A	c.(1201-1203)CCG>CCA	p.P401P	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.P342P	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	401	EGF-like 4.|Extracellular (Potential).				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				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGCACCTGTGCGGCTCGTGGG	0.622													T	23028939	C	T	23028939	2	4	238	1	0	0	0	0	0	0	0	1	15849	755	27	1		1	THBD	20	23028939	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3072847	23028939	39996581	639	121030											
C20orf114	92747	broad.mit.edu	37	chr20	31876653	31876653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcatccctgtgctgggCagcctggtgaacaccgtcct	14	13	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:31876653C>T	uc002wyw.1	+	3	383	c.222C>T	c.(220-222)GGC>GGT	p.G74G	C20orf114_uc010gej.1_Silent_p.G74G	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	74						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						CTGTGCTGGGCAGCCTGGTGA	0.632													T	31876653	C	T	31876653	2	4	238	1	0	0	0	0	0	0	0	1	2082	697	25	2		2	C20orf114	20	31876653	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	8847714	31876653	31148867	640	121031											
CTNNBL1	56259	broad.mit.edu	37	chr20	36488339	36488339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcatcgacaatgacacCgaggaggagttctacctccg	11	11	2	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:36488339C>T	uc010zvw.1	+	15	1522	c.1431C>T	c.(1429-1431)ACC>ACT	p.T477T	CTNNBL1_uc002xhh.2_Silent_p.T290T|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Silent_p.T225T	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	477					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				ACAATGACACCGAGGAGGAGT	0.522													T	36488339	C	T	36488339	2	4	238	1	0	0	0	0	0	0	0	1	4018	639	23	1		1	CTNNBL1	20	36488339	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4611686	36488339	26537181	641	121032											
TGM2	7052	broad.mit.edu	37	chr20	36760860	36760860	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttggactccgtaaggcagTcacggtatttctcatagagg	13	8	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:36760860T>A	uc002xhr.2	-	11	1758	c.1658A>T	c.(1657-1659)GAC>GTC	p.D553V	TGM2_uc002xhq.2_Missense_Mutation_p.D154V|TGM2_uc010zvx.1_Missense_Mutation_p.D472V|TGM2_uc010zvy.1_Missense_Mutation_p.D493V|TGM2_uc002xhs.1_Missense_Mutation_p.D529V	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	553					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGTAAGGCAGTCACGGTATTT	0.542													A	36760860	T	A	36760860	3	1	238	1	0	0	0	0	1	0	0	0	15827	1667	58	5	417	5	TGM2	20	36760860	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	272521	36760860	26264660	642	121033											
SLC32A1	140679	broad.mit.edu	37	chr20	37357018	37357018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgacgctgcgctgcgcGctcgtcgtcttcacgctgct	14	15	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:37357018G>A	uc002xjc.2	+	2	1577	c.1314G>A	c.(1312-1314)GCG>GCA	p.A438A		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	438	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCGCTGCGCGCTCGTCGTCT	0.667													A	37357018	G	A	37357018	2	1	238	1	0	0	0	0	0	0	0	1	14565	1074	38	1		1	SLC32A1	20	37357018	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	596158	37357018	25668502	643	121034											
PTPRT	11122	broad.mit.edu	37	chr20	40735533	40735533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcatggtgtcaatggcaaTgaagcagccagtccgcccag	12	11	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:40735533T>C	uc002xkg.2	-	24	3467	c.3283A>G	c.(3283-3285)ATT>GTT	p.I1095V	PTPRT_uc010ggj.2_Missense_Mutation_p.I1114V|PTPRT_uc010ggi.2_Missense_Mutation_p.I298V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1095	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCAATGGCAATGAAGCAGCCA	0.582													C	40735533	T	C	40735533	3	2	238	1	0	0	0	0	1	0	0	0	12812	1464	51	3	1074	3	PTPRT	20	40735533	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3378515	40735533	22289987	644	121035											
WFDC9	259240	broad.mit.edu	37	chr20	44238793	44238793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaactccagagatgaacaTgacgagtagaagaatccagg	10	9	0	5			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:44238793T>C	uc002xoy.2	-	3	246	c.28A>G	c.(28-30)ATG>GTG	p.M10V		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	protease inhibitor WAP9 precursor	10						extracellular region					0		Myeloproliferative disorder(115;0.0122)				GAGATGAACATGACGAGTAGA	0.502													C	44238793	T	C	44238793	3	2	238	1	0	0	0	0	1	0	0	0	17354	1464	51	3	253	3	WFDC9	20	44238793	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3503260	44238793	18786727	645	121036											
ADNP	23394	broad.mit.edu	37	chr20	49509189	49509190	+	Frame_Shift_Ins	INS	-	-	A													tgggtctttccaacgcccctINSgcagtgaactagatgcagag							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:49509188_49509189C>CA	uc002xvt.1	-	4	2407_2408	c.2062_2063G>TG	c.(2062-2064)aggfs	p.R688fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.R688fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	688						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						TCCAACGCCCCTGCAGTGAACT	0.485													A	49509190	-	A	49509189	7	5	238	1	0	1	1	0	0	0	0	0	323	1579	55	0	1250	0	ADNP	20	49509189	Frame_Shift_Ins	INS	-	TCGA-F1-A448-01A-11D-A24D-08	5270396	49509189	13516331	646	121037											
KCNQ2	3785	broad.mit.edu	37	chr20	62070004	62070004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctgctgccgggttccGcctcttctcaaagtgcttct	10	15	3	0	rs118192215		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:62070004G>A	uc002yey.1	-	7	1174	c.997C>T	c.(997-999)CGG>TGG	p.R333W	KCNQ2_uc002yez.1_Missense_Mutation_p.R333W|KCNQ2_uc002yfa.1_Missense_Mutation_p.R333W|KCNQ2_uc002yfb.1_Missense_Mutation_p.R333W|KCNQ2_uc011aax.1_Missense_Mutation_p.R333W|KCNQ2_uc002yfc.1_Missense_Mutation_p.R333W	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	333	Cytoplasmic (Potential).		R -> Q (in EBN1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels).		axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCCGGGTTCCGCCTCTTCTCA	0.617													A	62070004	G	A	62070004	3	1	238	1	0	0	0	0	1	0	0	0	8083	1086	38	1	1729	1	KCNQ2	20	62070004	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	12560815	62070004	955516	647	121038											
KCNQ2	3785	broad.mit.edu	37	chr20	62073780	62073780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccccaccagagtgcatcCgcgtaggtgtcaaagtggtc	13	12	1	1	rs148654588		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:62073780C>T	uc002yey.1	-	5	972	c.795G>A	c.(793-795)GCG>GCA	p.A265A	KCNQ2_uc002yez.1_Silent_p.A265A|KCNQ2_uc002yfa.1_Silent_p.A265A|KCNQ2_uc002yfb.1_Silent_p.A265A|KCNQ2_uc011aax.1_Silent_p.A265A|KCNQ2_uc002yfc.1_Silent_p.A265A	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	265					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGAGTGCATCCGCGTAGGTGT	0.577													T	62073780	C	T	62073780	2	4	238	1	0	0	0	0	0	0	0	1	8083	639	23	1		1	KCNQ2	20	62073780	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3776	62073780	951740	648	121039											
C20orf195	79025	broad.mit.edu	37	chr20	62187821	62187821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtggctgcctgcaccttcGacgtccgaaacctgctgccc	10	18	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr20:62187821G>A	uc002yfj.2	+	2	897	c.805G>A	c.(805-807)GAC>AAC	p.D269N	C20orf195_uc002yfk.2_Missense_Mutation_p.D269N	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	269											0	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)			CTGCACCTTCGACGTCCGAAA	0.627													A	62187821	G	A	62187821	3	1	238	1	0	0	0	0	1	0	0	0	2100	1058	37	1	807	1	C20orf195	20	62187821	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	114041	62187821	837699	649	121040											
APP	351	broad.mit.edu	37	chr21	27347434	27347434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttctccagggccaggcgGcggcggtcattgagcatggc	16	11	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:27347434G>A	uc002ylz.2	-	11	1607	c.1407C>T	c.(1405-1407)CGC>CGT	p.R469R	APP_uc010glk.2_Silent_p.R445R|APP_uc002yma.2_Silent_p.R450R|APP_uc011ach.1_Silent_p.R413R|APP_uc002ymb.2_Silent_p.R394R|APP_uc010glj.2_Silent_p.R338R|APP_uc011aci.1_Silent_p.R359R	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	469	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				GGGCCAGGCGGCGGCGGTCAT	0.582													A	27347434	G	A	27347434	2	1	238	1	0	0	0	0	0	0	0	1	815	1190	42	2		2	APP	21	27347434	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08		27347434	20782461	650	121041											
APP	351	broad.mit.edu	37	chr21	27372467	27372467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagatcattgctcggcacGgccccgtctcggcttgttca	13	13	3	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:27372467G>A	uc002ylz.2	-	7	1096	c.896C>T	c.(895-897)CCG>CTG	p.P299L	APP_uc010glk.2_Missense_Mutation_p.P294L|APP_uc002yma.2_Missense_Mutation_p.P299L|APP_uc011ach.1_Missense_Mutation_p.P243L|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	299	Extracellular (Potential).|BPTI/Kunitz inhibitor.				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGCTCGGCACGGCCCCGTCTC	0.522													A	27372467	G	A	27372467	3	1	238	1	0	0	0	0	1	0	0	0	815	1116	39	1	1464	1	APP	21	27372467	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	25033	27372467	20757428	651	121042											
TIAM1	7074	broad.mit.edu	37	chr21	32493117	32493117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctgtttcgagccagccGccgcctcctcctcccaagag	8	18	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:32493117G>A	uc002yow.1	-	29	4817	c.4345C>T	c.(4345-4347)CGG>TGG	p.R1449W	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1389W	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1449	Poly-Arg.				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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CGAGCCAGCCGCCGCCTCCTC	0.542													A	32493117	G	A	32493117	3	1	238	1	0	0	0	0	1	0	0	0	15887	1086	38	1	434	1	TIAM1	21	32493117	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	5120650	32493117	15636778	652	121043											
GART	2618	broad.mit.edu	37	chr21	34892698	34892698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacatccagcttttccacAagctttagcaattccagcaa	5	13	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:34892698A>G	uc002yrx.2	-	14	1810	c.1675T>C	c.(1675-1677)TGT>CGT	p.C559R	GART_uc002yrz.2_Missense_Mutation_p.C559R|GART_uc010gmd.2_Missense_Mutation_p.C221R|GART_uc002yry.2_Missense_Mutation_p.C559R	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	559	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			ovary(1)	1					Pemetrexed(DB00642)	GCTTTTCCACAAGCTTTAGCA	0.408													G	34892698	A	G	34892698	3	3	238	1	0	0	0	0	1	0	0	0	6243	130	5	3	1393	3	GART	21	34892698	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	2399581	34892698	13237197	653	121044											
TTC3	7267	broad.mit.edu	37	chr21	38516874	38516874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcaagaaccttgatttatCgtcttcctggagtgttaact	8	8	1	2	rs139364689		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:38516874C>T	uc002yvz.2	+	21	1927	c.1822C>T	c.(1822-1824)CGT>TGT	p.R608C	TTC3_uc011aee.1_Missense_Mutation_p.R298C|TTC3_uc002ywa.2_Missense_Mutation_p.R608C|TTC3_uc002ywb.2_Missense_Mutation_p.R608C|TTC3_uc010gnf.2_Missense_Mutation_p.R373C|TTC3_uc002ywc.2_Missense_Mutation_p.R298C|TTC3_uc011aed.1_Missense_Mutation_p.R298C|TTC3_uc010gne.1_Missense_Mutation_p.R608C	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	608	TPR 4.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				CTTGATTTATCGTCTTCCTGG	0.333													T	38516874	C	T	38516874	3	4	238	1	0	0	0	0	1	0	0	0	16694	884	31	1	1900	1	TTC3	21	38516874	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3624176	38516874	9613021	654	121045											
BRWD1	54014	broad.mit.edu	37	chr21	40568453	40568453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttttgcttttcctttcGttttcctccttttggttttt	4	10	0	0	rs148068634		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:40568453G>A	uc002yxk.1	-	41	6681	c.6542C>T	c.(6541-6543)ACG>ATG	p.T2181M	BRWD1_uc010goc.1_Missense_Mutation_p.T824M|BRWD1_uc002yxl.2_Missense_Mutation_p.T2181M	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTTCCTTTCGTTTTCCTCCT	0.343													A	40568453	G	A	40568453	3	1	238	1	0	0	0	0	1	0	0	0	1525	1145	40	1	667	1	BRWD1	21	40568453	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2051579	40568453	7561442	655	121046											
DSCAM	1826	broad.mit.edu	37	chr21	41414356	41414356	+	Frame_Shift_Del	DEL	G	G	-													cttcctccatcctgaggtttGgggggagatgcagtgaacct							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:41414355_41414355TG>T	uc002yyq.1	-	31	6081	c.5629_5629CA>A	c.(5629-5631)aaafs	p.K1877fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1877					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)				TCCTGAGGTTTGGGGGGAGAT	0.567													-	41414356	G	-	41414356	7	5	238	1	0	1	0	1	0	0	0	0	4768	1335	47	0	418	0	DSCAM	21	41414356	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	845903	41414356	6715539	656	121047											
ITGB2	3689	broad.mit.edu	37	chr21	46320324	46320324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcttcccgtcgcccgCgaaatggaagccgtcatcag	11	16	2	0	rs148775158		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr21:46320324C>T	uc002zgd.2	-	6	852	c.808G>A	c.(808-810)GCG>ACG	p.A270T	ITGB2_uc002zge.2_Missense_Mutation_p.A270T|ITGB2_uc002zgf.3_Missense_Mutation_p.A270T|ITGB2_uc011afl.1_Missense_Mutation_p.A192T|ITGB2_uc010gpw.2_Missense_Mutation_p.A213T|ITGB2_uc002zgg.2_Missense_Mutation_p.A270T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	270	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCGTCGCCCGCGAAATGGAAG	0.617													T	46320324	C	T	46320324	3	4	238	1	0	0	0	0	1	0	0	0	7894	768	27	1	1541	1	ITGB2	21	46320324	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	4905968	46320324	1809571	657	121048											
ARVCF	421	broad.mit.edu	37	chr22	19966463	19966463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacagttgtccactcggCgtcccgtggcttggagtcct	13	12	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:19966463C>T	uc002zqz.2	-	7	1808	c.1537G>A	c.(1537-1539)GCC>ACC	p.A513T	ARVCF_uc002zqy.2_Missense_Mutation_p.A35T	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	513					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GTCCACTCGGCGTCCCGTGGC	0.622													T	19966463	C	T	19966463	3	4	238	1	0	0	0	0	1	0	0	0	1003	768	27	1	1403	1	ARVCF	22	19966463	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		19966463	31338103	658	121049											
CCDC116	164592	broad.mit.edu	37	chr22	21989426	21989426	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccagctaaacccaccaaTggcgggcagccctatgcttc	10	15	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:21989426T>C	uc002zve.2	+	4	1167	c.1074T>C	c.(1072-1074)AAT>AAC	p.N358N	CCDC116_uc011aih.1_Silent_p.N358N	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	358										ovary(1)|skin(1)	2	Colorectal(54;0.105)					AACCCACCAATGGCGGGCAGC	0.647													C	21989426	T	C	21989426	2	2	238	1	0	0	0	0	0	0	0	1	2753	1461	51	3		3	CCDC116	22	21989426	Silent	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	2022963	21989426	29315140	659	121050											
SDF2L1	23753	broad.mit.edu	37	chr22	21998265	21998265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggacagcactgggagcGtgaggctgctgtgcgcttcc	15	12	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:21998265G>A	uc002zvf.2	+	3	551	c.467G>A	c.(466-468)CGT>CAT	p.R156H		NM_022044	NP_071327	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1 precursor	156	MIR 3.					endoplasmic reticulum lumen|membrane					0	Colorectal(54;0.105)					CACTGGGAGCGTGAGGCTGCT	0.612											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21998265	G	A	21998265	3	1	238	1	0	0	0	0	1	0	0	0	13961	1145	40	1	477	1	SDF2L1	22	21998265	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	8839	21998265	29306301	660	121051											
C22orf15	150248	broad.mit.edu	37	chr22	24106850	24106850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggacatggcctccacccGctatgagtccctattggaga	11	12	0	3	rs140216229		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:24106850G>A	uc011aja.1	+	4	561	c.275G>A	c.(274-276)CGC>CAC	p.R92H	C22orf15_uc002zxv.1_3'UTR|C22orf15_uc002zxu.2_Missense_Mutation_p.R97H	NM_182520	NP_872326	Q8WYQ4	CV015_HUMAN	hypothetical protein LOC150248	92											0		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				GCCTCCACCCGCTATGAGTCC	0.577													A	24106850	G	A	24106850	3	1	238	1	0	0	0	0	1	0	0	0	2136	1087	38	1	289	1	C22orf15	22	24106850	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	2108585	24106850	27197716	661	121052											
SUSD2	56241	broad.mit.edu	37	chr22	24580150	24580150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagagcgagttggtgaaCgagacgcgttggcaatacta	15	6	0	4			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:24580150C>T	uc002zzn.1	+	4	530	c.486C>T	c.(484-486)AAC>AAT	p.N162N		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	162	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGTTGGTGAACGAGACGCGTT	0.607													T	24580150	C	T	24580150	2	4	238	1	0	0	0	0	0	0	0	1	15405	535	19	1		1	SUSD2	22	24580150	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	473300	24580150	26724416	662	121053											
GGT1	2678	broad.mit.edu	37	chr22	25019812	25019812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgacgtaccaccgcatcGtagaggctttccggtttgcc	11	14	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:25019812G>A	uc003aan.1	+	11	1436	c.949G>A	c.(949-951)GTA>ATA	p.V317I	GGT1_uc003aas.1_Missense_Mutation_p.V317I|GGT1_uc003aat.1_Missense_Mutation_p.V317I|GGT1_uc003aau.1_Missense_Mutation_p.V317I|GGT1_uc003aav.1_Missense_Mutation_p.V317I|GGT1_uc003aaw.1_Missense_Mutation_p.V317I|GGT1_uc003aax.1_Missense_Mutation_p.V317I	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	317	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CCACCGCATCGTAGAGGCTTT	0.617													A	25019812	G	A	25019812	3	1	238	1	0	0	0	0	1	0	0	0	6361	1145	40	1	975	1	GGT1	22	25019812	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	439662	25019812	26284754	663	121054											
TBC1D10A	83874	broad.mit.edu	37	chr22	30689776	30689776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagcaccagccccaccCggaagatgatcttgacccct	8	17	2	3			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:30689776C>T	uc011akt.1	-	8	938	c.914G>A	c.(913-915)CGG>CAG	p.R305Q	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.R163Q|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R217Q|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R312Q|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R305Q	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	305						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						CAGCCCCACCCGGAAGATGAT	0.617													T	30689776	C	T	30689776	3	4	238	1	0	0	0	0	1	0	0	0	15595	652	23	1	620	1	TBC1D10A	22	30689776	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	5669964	30689776	20614790	664	121055											
PLA2G3	50487	broad.mit.edu	37	chr22	31533772	31533772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagagaccatagggtcCtggagggctgtggtgttggc	19	7	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:31533772C>T	uc003aka.2	-	4	1119	c.990G>A	c.(988-990)CAG>CAA	p.Q330Q		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	330					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CCATAGGGTCCTGGAGGGCTG	0.627													T	31533772	C	T	31533772	2	4	238	1	0	0	0	0	0	0	0	1	12000	680	24	4		4	PLA2G3	22	31533772	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	843996	31533772	19770794	665	121056											
POLR2F	5435	broad.mit.edu	37	chr22	38355392	38355392	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcctcccctctggggagCgaccgcaggccaaccagaag	12	15	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:38355392C>T	uc003aul.2	+	3	251	c.130C>T	c.(130-132)CGA>TGA	p.R44*	POLR2F_uc010gxi.2_Missense_Mutation_p.A37V|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	44					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)	1	Melanoma(58;0.045)					CTCTGGGGAGCGACCGCAGGC	0.577													T	38355392	C	T	38355392	4	4	238	1	0	0	0	0	0	1	0	0	12219	760	27	1	140	1	POLR2F	22	38355392	Nonsense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	6821620	38355392	12949174	666	121057											
ARFGAP3	26286	broad.mit.edu	37	chr22	43195135	43195135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgcgccatgtcgggggcGttgggcagcacactggacag	16	11	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:43195135G>A	uc003bdd.2	-	15	1663	c.1443C>T	c.(1441-1443)AAC>AAT	p.N481N	ARFGAP3_uc010gzf.2_Silent_p.N437N	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	481					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(1)	1						TGTCGGGGGCGTTGGGCAGCA	0.562													A	43195135	G	A	43195135	2	1	238	1	0	0	0	0	0	0	0	1	851	1136	40	1		1	ARFGAP3	22	43195135	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	4839743	43195135	8109431	667	121058											
EFCAB6	64800	broad.mit.edu	37	chr22	43976413	43976413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctcctgtggattcagCgttgcaaaattgattggcat	10	9	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:43976413C>T	uc003bdy.1	-	25	3374	c.3159G>A	c.(3157-3159)ACG>ACA	p.T1053T	EFCAB6_uc003bdz.1_Silent_p.T901T|EFCAB6_uc010gzi.1_Silent_p.T901T|EFCAB6_uc010gzj.1_Silent_p.T279T	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1053					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGGATTCAGCGTTGCAAAAT	0.488													T	43976413	C	T	43976413	2	4	238	1	0	0	0	0	0	0	0	1	4939	755	27	1		1	EFCAB6	22	43976413	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	781278	43976413	7328153	668	121059											
NUP50	10762	broad.mit.edu	37	chr22	45571865	45571865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttggtagtggcgctggaGggaagcctttggaaggactg	18	5	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chr22:45571865G>T	uc003bfr.2	+	4	706	c.244G>T	c.(244-246)GGG>TGG	p.G82W	NUP50_uc003bfs.2_Missense_Mutation_p.G54W|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Missense_Mutation_p.G54W|NUP50_uc011aqo.1_5'Flank	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	82	5 X 2 AA repeats of F-G.|Gly-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				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGGCGCTGGAGGGAAGCCTTT	0.512													T	45571865	G	T	45571865	3	4	238	1	0	0	0	0	1	0	0	0	10766	1000	35	5	254	5	NUP50	22	45571865	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	1595452	45571865	5732701	669	121060											
PLCXD1	55344	broad.mit.edu	37	chrX	208208	208208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctggagcggcatccaCgcgaggtggtcatcctggcc	16	12	1	0	rs142663151		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:208208C>T	uc004cpc.2	+	5	748	c.436C>T	c.(436-438)CGC>TGC	p.R146C	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	146	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		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)				GCGGCATCCACGCGAGGTGGT	0.597													T	208208	C	T	208208	3	4	238	1	0	0	0	0	1	0	0	0	12041	536	19	1	450	1	PLCXD1	23	208208	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08		208208	155062352	670	121061											
CRLF2	64109	broad.mit.edu	37	chrX	1327751	1327751	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctggcattccatgtcaCctgcacggtttctaaattga	8	10	2	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:1327751C>T	uc004cpm.1	-	2		c.130G>A						Q9HC73	CRLF2_HUMAN	Homo sapiens mRNA for IL-XR, complete cds.							extracellular region|integral to membrane|plasma membrane	receptor activity			haematopoietic_and_lymphoid_tissue(7)	7		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)				TTCCATGTCACCTGCACGGTT	0.488			Mis|T	P2RY8|IGH@	B-ALL|Downs associated ALL								T	1327751	C	T	1327751	1	4	238	0	1	0	0	0	0	0	0	0	3887	507	18	4		4	CRLF2	23	1327751	RNA	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	1119543	1327751	153942809	671	121062											
ATXN3L	92552	broad.mit.edu	37	chrX	13337597	13337597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgttgttgtaatcgagCcaagaaatttgcaaggcatg	11	6	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:13337597C>T	uc010ned.2	-	1	922	c.457G>A	c.(457-459)GCT>ACT	p.A153T		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	153	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						TGTAATCGAGCCAAGAAATTT	0.398													T	13337597	C	T	13337597	3	4	238	1	0	0	0	0	1	0	0	0	1214	739	26	2	614	2	ATXN3L	23	13337597	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	12009846	13337597	141932963	672	121063											
BCOR	54880	broad.mit.edu	37	chrX	39931667	39931667	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagttcggtagtgacacattTgaatcggtcacccacgtaac	9	11	1	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:39931667T>A	uc004den.3	-	4	3224	c.2932A>T	c.(2932-2934)AAA>TAA	p.K978*	BCOR_uc004dep.3_Nonsense_Mutation_p.K978*|BCOR_uc004deo.3_Nonsense_Mutation_p.K978*|BCOR_uc004dem.3_Nonsense_Mutation_p.K978*|BCOR_uc004deq.3_Nonsense_Mutation_p.K978*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	978					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						GTGACACATTTGAATCGGTCA	0.507													A	39931667	T	A	39931667	4	1	238	1	0	0	0	0	0	1	0	0	1386	1821	63	5	2383	5	BCOR	23	39931667	Nonsense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	26594070	39931667	115338893	673	121064											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722706	64722707	+	Frame_Shift_Del	DEL	TA	TA	-													gcatttccgactcccgcctcTatgagagcaaccccgtgagg							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:64722706_64722707delTA	uc010nko.2	+	5	2104_2105	c.2095_2096delTA	c.(2095-2097)TATfs	p.Y699fs		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	699							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CTCCCGCCTCTATGAGAGCAAC	0.614													-	64722707	TA	-	64722706	7	5	238	1	0	1	0	1	0	0	0	0	17559	1522	53	0	2146	0	ZC3H12B	23	64722706	Frame_Shift_Del	DEL	TA	TCGA-F1-A448-01A-11D-A24D-08	24791039	64722706	90547854	674	121065											
ACRC	93953	broad.mit.edu	37	chrX	70823565	70823565	+	Silent	SNP	A	A	G													gacgacaacagtgatgattcAgaagctcccgacgacaacag					rs147899825		TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:70823565A>G	uc004eae.2	+	8	939	c.438A>G	c.(436-438)TCA>TCG	p.S146S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	146	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					GTGATGATTCAGAAGCTCCCG	0.488													G	70823565	A	G	70823565	2	3	238	1	0	0	0	0	0	0	0	1	171	175	7	3		3	ACRC	23	70823565	Silent	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	6100859	70823565	84446995	675	121066	620	2									
ACRC	93953	broad.mit.edu	37	chrX	70823574	70823574	+	Silent	SNP	C	C	T													agtgatgattcagaagctccCgacgacaacagtgatgattc							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:70823574C>T	uc004eae.2	+	8	948	c.447C>T	c.(445-447)CCC>CCT	p.P149P	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	149	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					CAGAAGCTCCCGACGACAACA	0.473													T	70823574	C	T	70823574	2	4	238	1	0	0	0	0	0	0	0	1	171	639	23	1		1	ACRC	23	70823574	Silent	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	9	70823574	84446986	676	121067	620	2									
ZDHHC15	158866	broad.mit.edu	37	chrX	74644604	74644604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatggaacttagagcgaaCactgggtaattccccctaga	10	10	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:74644604C>T	uc004ecg.2	-	8	1097	c.619G>A	c.(619-621)GTT>ATT	p.V207I	ZDHHC15_uc004ech.2_Missense_Mutation_p.V198I|ZDHHC15_uc011mqo.1_RNA	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	207						integral to membrane	zinc ion binding			ovary(2)	2						TTAGAGCGAACACTGGGTAAT	0.378													T	74644604	C	T	74644604	3	4	238	1	0	0	0	0	1	0	0	0	17602	478	17	4	410	4	ZDHHC15	23	74644604	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	3821030	74644604	80625956	677	121068											
PCDH11X	27328	broad.mit.edu	37	chrX	91132396	91132396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgctctcataactgtgaCggataaggatgcggaccata	10	8	1	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:91132396C>T	uc004efk.1	+	2	2002	c.1157C>T	c.(1156-1158)ACG>ATG	p.T386M	PCDH11X_uc004efl.1_Missense_Mutation_p.T386M|PCDH11X_uc004efo.1_Missense_Mutation_p.T386M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T386M|PCDH11X_uc004efm.1_Missense_Mutation_p.T386M|PCDH11X_uc004efn.1_Missense_Mutation_p.T386M|PCDH11X_uc004efh.1_Missense_Mutation_p.T386M|PCDH11X_uc004efj.1_Missense_Mutation_p.T386M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	386	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ATAACTGTGACGGATAAGGAT	0.418													T	91132396	C	T	91132396	3	4	238	1	0	0	0	0	1	0	0	0	11508	536	19	1	1163	1	PCDH11X	23	91132396	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	16487792	91132396	64138164	678	121069											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298659	125298659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaaagtagttcacccAgacgtcatcttggttgagcc	9	13	3	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:125298659A>G	uc004euk.1	-	1	1276	c.1249T>C	c.(1249-1251)TGG>CGG	p.W417R		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	417										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						TAGTTCACCCAGACGTCATCT	0.617													G	125298659	A	G	125298659	3	3	238	1	0	0	0	0	1	0	0	0	4265	188	7	3	146	3	DCAF12L2	23	125298659	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08	34166263	125298659	29971901	679	121070											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299569	125299569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtattacacttggtgccGcacaccacctgcctggcgtt	10	14	0	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:125299569G>A	uc004euk.1	-	1	366	c.339C>T	c.(337-339)TGC>TGT	p.C113C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	113										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						ACTTGGTGCCGCACACCACCT	0.657													A	125299569	G	A	125299569	2	1	238	1	0	0	0	0	0	0	0	1	4265	1079	38	1		1	DCAF12L2	23	125299569	Silent	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	910	125299569	29970991	680	121071											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686201	125686201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaagaggggaatgcgcgCgatgtggcctgactccacgt	15	12	0	2			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:125686201C>T	uc004eul.2	-	1	642	c.391G>A	c.(391-393)GCG>ACG	p.A131T		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	131										skin(3)|ovary(1)	4						GGAATGCGCGCGATGTGGCCT	0.612													T	125686201	C	T	125686201	3	4	238	1	0	0	0	0	1	0	0	0	4264	768	27	1	1004	1	DCAF12L1	23	125686201	Missense_Mutation	SNP	C	TCGA-F1-A448-01A-11D-A24D-08	386632	125686201	29584359	681	121072											
UTP14A	10813	broad.mit.edu	37	chrX	129054501	129054501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagcagctgcggaaggTtaatccagctgcagcactag	13	9	0	1			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:129054501T>C	uc004euz.2	+	9	849	c.821T>C	c.(820-822)GTT>GCT	p.V274A	UTP14A_uc011mup.1_Missense_Mutation_p.V222A|UTP14A_uc011muq.1_Missense_Mutation_p.V220A|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	274	Potential.				rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						CTGCGGAAGGTTAATCCAGCT	0.473													C	129054501	T	C	129054501	3	2	238	1	0	0	0	0	1	0	0	0	17092	1725	60	3	855	3	UTP14A	23	129054501	Missense_Mutation	SNP	T	TCGA-F1-A448-01A-11D-A24D-08	3368300	129054501	26216059	682	121073											
GPC4	2239	broad.mit.edu	37	chrX	132548849	132548849	+	Frame_Shift_Del	DEL	G	G	-													cctaccgttgatctcgtggaGgggggcatcgttcttgttga							TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:132548848_132548848AG>A	uc004exc.1	-	0	358	c.146_146CT>T	c.(145-147)ctcfs	p.L49fs	GPC4_uc011mvg.1_5'Flank	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	49					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GATCTCGTGGAGGGGGGCATC	0.647													-	132548849	G	-	132548849	7	5	238	1	0	1	0	1	0	0	0	0	6600	1000	35	0	1561	0	GPC4	23	132548849	Frame_Shift_Del	DEL	G	TCGA-F1-A448-01A-11D-A24D-08	3494348	132548849	22721711	683	121074											
G6PD	2539	broad.mit.edu	37	chrX	153762284	153762284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatcgaaatagcccccgcGaccctcagtgccaaagggct	9	15	2	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrX:153762284G>A	uc004fly.1	-	7	849	c.736C>T	c.(736-738)CGC>TGC	p.R246C	G6PD_uc004flx.1_Missense_Mutation_p.R276C	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	246					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			ovary(4)	4	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)					TAGCCCCCGCGACCCTCAGTG	0.592													A	153762284	G	A	153762284	3	1	238	1	0	0	0	0	1	0	0	0	6146	1058	37	1	839	1	G6PD	23	153762284	Missense_Mutation	SNP	G	TCGA-F1-A448-01A-11D-A24D-08	21213435	153762284	1508276	684	121075											
AMELY	266	broad.mit.edu	37	chrY	6736349	6736349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggccaggaacaggcatcAgtgcttgctggcggaccctg	15	12	1	0			TCGA-F1-A448-01A-11D-A24D-08	TCGA-F1-A448-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91adaff0-a6b9-4124-9234-cb79390607b1	8d50883c-c8e2-4fc0-a92c-86a4ceee4568	g.chrY:6736349A>G	uc004fra.1	-	5	356	c.344T>C	c.(343-345)CTG>CCG	p.L115P	AMELY_uc004fqz.2_Missense_Mutation_p.L101P	NM_001143	NP_001134	Q99218	AMELY_HUMAN	amelogenin, Y-linked precursor	115	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel				0						AACAGGCATCAGTGCTTGCTG	0.627													G	6736349	A	G	6736349	3	3	238	1	0	0	0	0	1	0	0	0	570	188	7	3	284	3	AMELY	24	6736349	Missense_Mutation	SNP	A	TCGA-F1-A448-01A-11D-A24D-08		6736349	52637217	685	121076											
DNAJC6	9829	broad.mit.edu	37	chr1	65871724	65871724	+	Frame_Shift_Del	DEL	A	A	-													gcctcagcccagcatgccccActcctctccccagaaccgac							TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr1:65871724delA	uc001dcd.1	+	16	2392	c.2228delA	c.(2227-2229)CACfs	p.H743fs	DNAJC6_uc010opc.1_Frame_Shift_Del_p.H730fs|DNAJC6_uc001dce.1_Frame_Shift_Del_p.H800fs	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	743	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AGCATGCCCCACTCCTCTCCC	0.602													-	65871724	A	-	65871724	7	5	239	1	0	1	0	1	0	0	0	0	4653	159	6	0	2290	0	DNAJC6	1	65871724	Frame_Shift_Del	DEL	A	TCGA-FP-7735-01A-11D-2053-08		65871724	183378897	1	121077											
ABCA4	24	broad.mit.edu	37	chr1	94546153	94546153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagagccacctccctcgGggtagccacacaggaggtca	12	16	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr1:94546153G>A	uc001dqh.2	-	8	1084	c.980C>T	c.(979-981)CCC>CTC	p.P327L	ABCA4_uc010otn.1_Missense_Mutation_p.P327L	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	327	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		ACCTCCCTCGGGGTAGCCACA	0.532													A	94546153	G	A	94546153	3	1	239	1	0	0	0	0	1	0	0	0	34	1232	43	4	6013	4	ABCA4	1	94546153	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	28674429	94546153	154704468	2	121078											
CSDE1	7812	broad.mit.edu	37	chr1	115266562	115266562	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgttggatcaacactcctCagggggcgaattactttgcc	11	10	2	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr1:115266562C>T	uc001efk.2	-	16	2281	c.1815G>A	c.(1813-1815)CTG>CTA	p.L605L	CSDE1_uc001efi.2_Silent_p.L651L|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Silent_p.L574L|CSDE1_uc001efm.2_Silent_p.L620L|CSDE1_uc009wgv.2_Silent_p.L605L|CSDE1_uc001efn.2_Silent_p.L574L	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	605					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CAACACTCCTCAGGGGGCGAA	0.423													T	115266562	C	T	115266562	2	4	239	1	0	0	0	0	0	0	0	1	3929	813	29	4		4	CSDE1	1	115266562	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08	20720409	115266562	133984059	3	121079											
FLG	2312	broad.mit.edu	37	chr1	152286012	152286012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccacgtgtggactcttgGtggctctgctgtctcagccc	13	14	3	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr1:152286012G>T	uc001ezu.1	-	3	1386	c.1350C>A	c.(1348-1350)CAC>CAA	p.H450Q	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	450	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGACTCTTGGTGGCTCTGCT	0.577									Ichthyosis				T	152286012	G	T	152286012	3	4	239	1	0	0	0	0	1	0	0	0	5922	1252	44	5	10839	5	FLG	1	152286012	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	37019450	152286012	96964609	4	121080											
SLAMF6	114836	broad.mit.edu	37	chr1	160465991	160465991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcagtcgctttccctgtTtcggattagtcacgtggatt	10	9	2	0	rs61761948		TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr1:160465991T>C	uc001fwe.1	-	2	302	c.242A>G	c.(241-243)AAA>AGA	p.K81R	SLAMF6_uc001fwd.1_Missense_Mutation_p.K81R|SLAMF6_uc010pjh.1_Missense_Mutation_p.K32R|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Missense_Mutation_p.K32R	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	81	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTTTCCCTGTTTCGGATTAGT	0.463													C	160465991	T	C	160465991	3	2	239	1	0	0	0	0	1	0	0	0	14368	1841	64	3	784	3	SLAMF6	1	160465991	Missense_Mutation	SNP	T	TCGA-FP-7735-01A-11D-2053-08	8179979	160465991	88784630	5	121081											
HMCN1	83872	broad.mit.edu	37	chr1	186158760	186158760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaatcaagatttaatccGgctggttgcatacacacagg	8	11	1	1	rs148530862		TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr1:186158760G>A	uc001grq.1	+	107	16887	c.16658G>A	c.(16657-16659)CGG>CAG	p.R5553Q	HMCN1_uc001grs.1_Missense_Mutation_p.R1005Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5553					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GATTTAATCCGGCTGGTTGCA	0.468													A	186158760	G	A	186158760	3	1	239	1	0	0	0	0	1	0	0	0	7220	1116	39	1	17084	1	HMCN1	1	186158760	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	25692769	186158760	63091861	6	121082											
KLHL12	59349	broad.mit.edu	37	chr1	202878254	202878254	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactacagcggatgaaaggcTgaaatatagcagacagcaga	11	7	0	4			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr1:202878254T>A	uc001gyo.1	-	6	918	c.718_splice	c.e6-1	p.P240_splice	KLHL12_uc001gym.1_5'UTR|KLHL12_uc001gyn.1_Splice_Site_p.P90_splice|KLHL12_uc010pqc.1_Splice_Site_p.P278_splice|KLHL12_uc009xah.1_Splice_Site_p.P240_splice	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12						Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GATGAAAGGCTGAAATATAGC	0.438													A	202878254	T	A	202878254	5	1	239	1	0	0	0	0	0	0	1	0	8368	1594	55	5	1018	5	KLHL12	1	202878254	Splice_Site	SNP	T	TCGA-FP-7735-01A-11D-2053-08	16719494	202878254	46372367	7	121083											
KIAA1310	55683	broad.mit.edu	37	chr2	97271204	97271204	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgcttcagctgaaccctaaGatcctctttctctccttcct	4	16	3	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr2:97271204G>T	uc002swn.3	-	15	1932	c.1786C>A	c.(1786-1788)CTT>ATT	p.L596I	KIAA1310_uc002swh.3_Missense_Mutation_p.L484I|KIAA1310_uc002swi.3_Missense_Mutation_p.L523I|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.L509I|KIAA1310_uc010fhz.2_Missense_Mutation_p.L416I|KIAA1310_uc002swl.3_Missense_Mutation_p.L497I|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.L390I|KIAA1310_uc002swo.2_5'UTR|KIAA1310_uc002swp.1_Missense_Mutation_p.L497I	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	622											0						TGAACCCTAAGATCCTCTTTC	0.502													T	97271204	G	T	97271204	3	4	239	1	0	0	0	0	1	0	0	0	8222	942	33	5	878	5	KIAA1310	2	97271204	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08		97271204	145928169	8	121084											
AFF3	3899	broad.mit.edu	37	chr2	100181979	100181979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactgtttctgaatacatcGtataaggagatttggattcc	8	7	1	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr2:100181979G>A	uc002tag.2	-	19	3325	c.3089C>T	c.(3088-3090)ACG>ATG	p.T1030M	AFF3_uc002taf.2_Missense_Mutation_p.T1055M	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1030				T -> YL (in Ref. 1; AAA98763).	multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TGAATACATCGTATAAGGAGA	0.448													A	100181979	G	A	100181979	3	1	239	1	0	0	0	0	1	0	0	0	358	1145	40	1	615	1	AFF3	2	100181979	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	2910775	100181979	143017394	9	121085											
SDPR	8436	broad.mit.edu	37	chr2	192700704	192700704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggggtccccatcggagCgctccgcctcctcggatgtt	13	16	0	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr2:192700704C>T	uc002utb.2	-	2	1553	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	408						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCCATCGGAGCGCTCCGCCTC	0.622													T	192700704	C	T	192700704	3	4	239	1	0	0	0	0	1	0	0	0	13970	768	27	1	58	1	SDPR	2	192700704	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	92518725	192700704	50498669	10	121086											
SLC39A10	57181	broad.mit.edu	37	chr2	196548511	196548511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttacatacctttgccctgCattgttatatcaaatcgaca	4	10	1	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr2:196548511C>T	uc002utg.3	+	3	1311	c.1097C>T	c.(1096-1098)GCA>GTA	p.A366V	SLC39A10_uc002uth.3_Missense_Mutation_p.A366V|SLC39A10_uc010zgp.1_5'UTR	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	366					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CTTTGCCCTGCATTGTTATAT	0.358													T	196548511	C	T	196548511	3	4	239	1	0	0	0	0	1	0	0	0	14613	710	25	2	1103	2	SLC39A10	2	196548511	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	3847807	196548511	46650862	11	121087											
SGEF	26084	broad.mit.edu	37	chr3	153973256	153973256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctaggactggagaccaaCgtgtagtctctcagatggtc	12	9	2	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr3:153973256C>T	uc011bog.1	+	15	2821	c.2610C>T	c.(2608-2610)AAC>AAT	p.N870N	SGEF_uc011boh.1_3'UTR|SGEF_uc011boi.1_Silent_p.N138N	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	870					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAGACCAACGTGTAGTCTC	0.453													T	153973256	C	T	153973256	2	4	239	1	0	0	0	0	0	0	0	1	14205	535	19	1		1	SGEF	3	153973256	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08		153973256	44049174	12	121088											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	239	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	24962835	178936091	19086339	13	121089											
ADD1	118	broad.mit.edu	37	chr4	2895781	2895781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacacttcctcattgtcccTtttgggcttctttacagtga	7	11	2	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr4:2895781T>C	uc003gfr.2	+	5	740	c.552T>C	c.(550-552)CCT>CCC	p.P184P	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.P184P|ADD1_uc003gfo.2_Silent_p.P184P|ADD1_uc003gfp.2_Silent_p.P184P|ADD1_uc003gfq.2_Silent_p.P184P|ADD1_uc003gfs.2_Silent_p.P184P|ADD1_uc003gft.3_Silent_p.P184P|ADD1_uc003gfu.2_5'UTR	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	184					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			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCATTGTCCCTTTTGGGCTTC	0.428													C	2895781	T	C	2895781	2	2	239	1	0	0	0	0	0	0	0	1	304	1596	56	3		3	ADD1	4	2895781	Silent	SNP	T	TCGA-FP-7735-01A-11D-2053-08		2895781	188258495	14	121090											
RPL9	6133	broad.mit.edu	37	chr4	39458038	39458038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcacatacctggtctcatccGaaccctgcggatatattttt	7	12	1	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr4:39458038G>C	uc003gub.2	-	4	527	c.379C>G	c.(379-381)CGG>GGG	p.R127G	RPL9_uc003guc.2_Missense_Mutation_p.R127G|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.R127G|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	ribosomal protein L9	127					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			skin(1)	1						GGTCTCATCCGAACCCTGCGG	0.408													C	39458038	G	C	39458038	3	2	239	1	0	0	0	0	1	0	0	0	13603	1057	37	5	211	5	RPL9	4	39458038	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	36562257	39458038	151696238	15	121091											
USP53	54532	broad.mit.edu	37	chr4	120177442	120177442	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cattttcacatagtgccaagCagagatgcagacatgtgtac	9	9	1	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr4:120177442C>G	uc003ics.3	+	7	1480	c.414C>G	c.(412-414)AGC>AGG	p.S138R	USP53_uc003icr.3_Missense_Mutation_p.S138R|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	138					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						TAGTGCCAAGCAGAGATGCAG	0.343													G	120177442	C	G	120177442	3	3	239	1	0	0	0	0	1	0	0	0	17081	709	25	5	428	5	USP53	4	120177442	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	80719404	120177442	70976834	16	121092											
MTNR1A	4543	broad.mit.edu	37	chr4	187455407	187455407	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactggagagtccctgcacgGaggttgggcaggacggccgc	17	11	0	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr4:187455407G>A	uc003izd.1	-	2	507	c.489C>T	c.(487-489)CTC>CTT	p.L163L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	163	Helical; Name=4; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		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)	TCCCTGCACGGAGGTTGGGCA	0.602													A	187455407	G	A	187455407	2	1	239	1	0	0	0	0	0	0	0	1	9951	1161	41	4		4	MTNR1A	4	187455407	Silent	SNP	G	TCGA-FP-7735-01A-11D-2053-08	67277965	187455407	3698869	17	121093											
APC	324	broad.mit.edu	37	chr5	112175944	112175945	+	Frame_Shift_Del	DEL	AG	AG	-													tcaaatgaaaaccaagagaaAgaggcagaaaaaactattga							TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr5:112175944_112175945delAG	uc010jby.2	+	16	5033_5034	c.4653_4654delAG	c.(4651-4656)AAAGAGfs	p.K1551fs	APC_uc011cvt.1_Frame_Shift_Del_p.K1533fs|APC_uc003kpz.3_Frame_Shift_Del_p.K1551fs|APC_uc003kpy.3_Frame_Shift_Del_p.K1551fs|APC_uc010jbz.2_Frame_Shift_Del_p.K1268fs|APC_uc010jca.2_Frame_Shift_Del_p.K851fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1551_1552	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.E1552*(8)|p.K1192fs*3(1)|p.?(1)|p.K1551*(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		ACCAAGAGAAAGAGGCAGAAAA	0.342		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			-	112175945	AG	-	112175944	7	5	239	1	0	1	0	1	0	0	0	0	763	69	3	0	4711	0	APC	5	112175944	Frame_Shift_Del	DEL	AG	TCGA-FP-7735-01A-11D-2053-08		112175944	68739316	18	121094											
HIST1H3H	8357	broad.mit.edu	37	chr6	27777970	27777970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcggtgtcaagaagccccAtcgctatcggcctggtacag	13	13	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr6:27777970A>C	uc003njm.2	+	1	129	c.119A>C	c.(118-120)CAT>CCT	p.H40P	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	40					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						AAGAAGCCCCATCGCTATCGG	0.647													C	27777970	A	C	27777970	3	2	239	1	0	0	0	0	1	0	0	0	7162	217	8	5	121	5	HIST1H3H	6	27777970	Missense_Mutation	SNP	A	TCGA-FP-7735-01A-11D-2053-08		27777970	143337097	19	121095											
PTK7	5754	broad.mit.edu	37	chr6	43098042	43098063	+	Frame_Shift_Del	DEL	AGCGGAACCTGACGCTCCGGCC	AGCGGAACCTGACGCTCCGGCC	-													ccacacagtcagcagcaaggAgcggaacctgacgctccggc					rs149112329	by1000genomes	TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr6:43098041_43098062GAGCGGAACCTGACGCTCCGGCC>G	uc011dve.1	+	3	610_631	c.568_589GAGCGGAACCTGACGCTCCGGCC>G	c.(568-591)gagcggaacctgacgctccggccafs	p.E190fs	PTK7_uc003oub.1_Frame_Shift_Del_p.E182fs|PTK7_uc003ouc.1_Frame_Shift_Del_p.E182fs|PTK7_uc003oud.1_Frame_Shift_Del_p.E182fs|PTK7_uc003oue.1_Frame_Shift_Del_p.E182fs|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Frame_Shift_Del_p.E182fs	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	182	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R188R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGCAGCAAGGAGCGGAACCTGACGCTCCGGCCAGCTGGTCC	0.595													-	43098063	AGCGGAACCTGACGCTCCGGCC	-	43098042	7	5	239	1	0	1	0	1	0	0	0	0	12765	304	11	0	559	0	PTK7	6	43098042	Frame_Shift_Del	DEL	AGCGGAACCTGACGCTCCGGCC	TCGA-FP-7735-01A-11D-2053-08	15320072	43098042	128017025	20	121096											
C6orf142	90523	broad.mit.edu	37	chr6	54034364	54034364	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcagctggtcgagaaacCaaatatgtaagtacctttat	9	7	0	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr6:54034364C>A	uc003pcg.3	+	8	1046	c.933C>A	c.(931-933)ACC>ACA	p.T311T	C6orf142_uc003pcf.2_Silent_p.T835T|C6orf142_uc003pch.3_Silent_p.T155T|C6orf142_uc011dxa.1_Silent_p.T846T	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	311						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)					GTCGAGAAACCAAATATGTAA	0.299													A	54034364	C	A	54034364	2	1	239	1	0	0	0	0	0	0	0	1	2333	581	21	5		5	C6orf142	6	54034364	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08	10936322	54034364	117080703	21	121097											
PHF3	23469	broad.mit.edu	37	chr6	64410303	64410303	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcttatcagaatgagtccaGaagaactagcttctaaagag	8	7	3	5			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr6:64410303G>A	uc003pep.1	+	8	3072	c.3046G>A	c.(3046-3048)GAA>AAA	p.E1016K	PHF3_uc010kah.1_Missense_Mutation_p.E830K|PHF3_uc003pen.2_Missense_Mutation_p.E928K|PHF3_uc011dxs.1_Missense_Mutation_p.E285K	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1016	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			AATGAGTCCAGAAGAACTAGC	0.323													A	64410303	G	A	64410303	3	1	239	1	0	0	0	0	1	0	0	0	11836	943	33	4	3076	4	PHF3	6	64410303	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	10375939	64410303	106704764	22	121098											
ARMC2	84071	broad.mit.edu	37	chr6	109274511	109274511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcgtgggcccggtgctGgccgccaacccggggatagt	18	14	0	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr6:109274511G>A	uc003pss.3	+	13	2046	c.1872G>A	c.(1870-1872)CTG>CTA	p.L624L	ARMC2_uc011eao.1_Silent_p.L459L	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	624	ARM 9.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GCCCGGTGCTGGCCGCCAACC	0.667													A	109274511	G	A	109274511	2	1	239	1	0	0	0	0	0	0	0	1	951	1335	47	4		4	ARMC2	6	109274511	Silent	SNP	G	TCGA-FP-7735-01A-11D-2053-08	44864208	109274511	61840556	23	121099											
AMD1	262	broad.mit.edu	37	chr6	111214017	111214017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgtgggtattcgatgaatgGaatgaaatcggatgtgagta	14	2	0	3			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr6:111214017G>T	uc003puk.1	+	7	1017	c.695G>T	c.(694-696)GGA>GTA	p.G232V	AMD1_uc011eay.1_Missense_Mutation_p.G163V|AMD1_uc011eaz.1_Missense_Mutation_p.G203V|AMD1_uc011eba.1_Missense_Mutation_p.G112V|AMD1_uc003pul.1_Missense_Mutation_p.G84V	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	232					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TCGATGAATGGAATGAAATCG	0.393													T	111214017	G	T	111214017	3	4	239	1	0	0	0	0	1	0	0	0	566	1174	41	5	721	5	AMD1	6	111214017	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	1939506	111214017	59901050	24	121100											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212378	74212378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagatacttcctgagcccTtttttcagctcgtgaagctt	8	10	1	3			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr7:74212378T>C	uc003ubd.1	-	16	1657	c.1473A>G	c.(1471-1473)AAA>AAG	p.K491K	GTF2IRD2_uc010lbt.1_Silent_p.K38K	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						tcctgagcccttttttcagct	0													C	74212378	T	C	74212378	2	2	239	1	0	0	0	0	0	0	0	1	6869	1606	56	3		3	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-FP-7735-01A-11D-2053-08		74212378	84926285	25	121101											
NCAPG2	54892	broad.mit.edu	37	chr7	158476040	158476040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaaggtgtatcccGtggaacatgaagtcctggat	12	10	0	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr7:158476040G>A	uc003wnv.1	-	9	1021	c.876C>T	c.(874-876)CAC>CAT	p.H292H	NCAPG2_uc010lqu.1_Silent_p.H84H|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.H292H|NCAPG2_uc011kwe.1_Silent_p.H292H	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	292					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	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)		GGTGTATCCCGTGGAACATGA	0.428													A	158476040	G	A	158476040	2	1	239	1	0	0	0	0	0	0	0	1	10208	1136	40	1		1	NCAPG2	7	158476040	Silent	SNP	G	TCGA-FP-7735-01A-11D-2053-08	84263662	158476040	662623	26	121102											
C8orf80	389643	broad.mit.edu	37	chr8	27884560	27884560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccttcaccttctccaCgattccagtctatgcaacaa	5	16	3	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr8:27884560C>T	uc003xgm.3	-	18	2307	c.2164G>A	c.(2164-2166)GTG>ATG	p.V722M		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	722						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ACCTTCTCCACGATTCCAGTC	0.532													T	27884560	C	T	27884560	3	4	239	1	0	0	0	0	1	0	0	0	2439	536	19	1	234	1	C8orf80	8	27884560	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08		27884560	118479462	27	121103											
PRKDC	5591	broad.mit.edu	37	chr8	48740855	48740855	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaatttatccatctctttCaaaattccagaaaacaagct	2	9	2	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr8:48740855C>T	uc003xqi.2	-	63	8508	c.8451G>A	c.(8449-8451)TTG>TTA	p.L2817L	PRKDC_uc003xqj.2_Silent_p.L2817L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2817	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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCATCTCTTTCAAAATTCCAG	0.323								NHEJ					T	48740855	C	T	48740855	2	4	239	1	0	0	0	0	0	0	0	1	12521	825	29	4		4	PRKDC	8	48740855	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08	20856295	48740855	97623167	28	121104											
COL14A1	7373	broad.mit.edu	37	chr8	121256220	121256220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacacggatggcgaaggcGtcagcgtctccgctcctgga	13	13	3	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr8:121256220G>A	uc003yox.2	+	20	2717	c.2452G>A	c.(2452-2454)GTC>ATC	p.V818I	COL14A1_uc003yoy.2_Missense_Mutation_p.V496I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	818	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TGGCGAAGGCGTCAGCGTCTC	0.493													A	121256220	G	A	121256220	3	1	239	1	0	0	0	0	1	0	0	0	3671	1145	40	1	2526	1	COL14A1	8	121256220	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	72515365	121256220	25107802	29	121105											
BAI1	575	broad.mit.edu	37	chr8	143623631	143623631	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggctctggacacgagctacGtgatcctgcccacggccacg	12	15	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr8:143623631G>C	uc003ywm.2	+	27	4219	c.4036G>C	c.(4036-4038)GTG>CTG	p.V1346L		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1346	Cytoplasmic (Potential).				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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					CACGAGCTACGTGATCCTGCC	0.642													C	143623631	G	C	143623631	3	2	239	1	0	0	0	0	1	0	0	0	1298	1145	40	5	4142	5	BAI1	8	143623631	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	22367411	143623631	2740391	30	121106											
ERMP1	79956	broad.mit.edu	37	chr9	5810125	5810125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatgagagagactgtccAataagagagatgaacactgc	10	8	0	5			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr9:5810125A>C	uc003zjm.1	-	8	1488	c.1434T>G	c.(1432-1434)ATT>ATG	p.I478M	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.I92M	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	478	Helical; (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GAGACTGTCCAATAAGAGAGA	0.403													C	5810125	A	C	5810125	3	2	239	1	0	0	0	0	1	0	0	0	5236	126	5	5	1312	5	ERMP1	9	5810125	Missense_Mutation	SNP	A	TCGA-FP-7735-01A-11D-2053-08		5810125	135403306	31	121107											
DENND1A	57706	broad.mit.edu	37	chr9	126202698	126202698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcttggggtccttggcctCcaccagtggggacggtgcag	17	11	0	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr9:126202698C>T	uc004bnz.1	-	19	1662	c.1429G>A	c.(1429-1431)GAG>AAG	p.E477K	DENND1A_uc011lzl.1_Missense_Mutation_p.E252K|DENND1A_uc004bny.1_Missense_Mutation_p.E216K|DENND1A_uc011lzm.1_Missense_Mutation_p.E445K|DENND1A_uc004boa.1_Missense_Mutation_p.E477K|DENND1A_uc004bob.1_Missense_Mutation_p.E447K|DENND1A_uc004boc.2_Missense_Mutation_p.E445K|DENND1A_uc010mwh.1_5'UTR	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	477						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						TCCTTGGCCTCCACCAGTGGG	0.577													T	126202698	C	T	126202698	3	4	239	1	0	0	0	0	1	0	0	0	4426	864	30	4	1723	4	DENND1A	9	126202698	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	120392573	126202698	15010733	32	121108											
DCLRE1C	64421	broad.mit.edu	37	chr10	14976747	14976747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcacagaacgtagtatcCaaatatacactttggatgtc	8	8	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:14976747C>T	uc001inn.2	-	7	577	c.492G>A	c.(490-492)TTG>TTA	p.L164L	DCLRE1C_uc010qbx.1_Silent_p.L164L|DCLRE1C_uc001inl.2_Silent_p.L44L|DCLRE1C_uc009xji.2_Silent_p.L49L|DCLRE1C_uc001inm.2_Silent_p.L44L|DCLRE1C_uc001ino.2_Silent_p.L49L|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Silent_p.L44L|DCLRE1C_uc001inq.2_Silent_p.L44L|DCLRE1C_uc001inr.2_Silent_p.L49L|DCLRE1C_uc009xjj.1_RNA	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	164					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						ACGTAGTATCCAAATATACAC	0.343								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					T	14976747	C	T	14976747	2	4	239	1	0	0	0	0	0	0	0	1	4296	593	21	4		4	DCLRE1C	10	14976747	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08		14976747	120558000	33	121109											
FAM21A	387680	broad.mit.edu	37	chr10	51827887	51827887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccggacgacccccgaccAggagctggcgccagcgtcgg	15	16	0	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:51827887A>G	uc001jjb.2	+	2	108	c.26A>G	c.(25-27)CAG>CGG	p.Q9R	uc001jiz.1_5'Flank|FAM21A_uc001jja.1_5'UTR|FAM21A_uc010qhi.1_Missense_Mutation_p.Q9R|FAM21A_uc010qhj.1_Missense_Mutation_p.Q9R	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN	hypothetical protein LOC387680	9					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				ovary(1)	1						ACCCCCGACCAGGAGCTGGCG	0.711													G	51827887	A	G	51827887	3	3	239	1	0	0	0	0	1	0	0	0	5540	188	7	3	32	3	FAM21A	10	51827887	Missense_Mutation	SNP	A	TCGA-FP-7735-01A-11D-2053-08	36851140	51827887	83706860	34	121110											
ASAH2	56624	broad.mit.edu	37	chr10	52003054	52003054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgccatgatgaaggcacGactgtatagcctggtgagga	13	8	1	3			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:52003054G>A	uc001jjd.2	-	3	418	c.418C>T	c.(418-420)CGT>TGT	p.R140C	ASAH2_uc009xos.2_Missense_Mutation_p.R140C	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase 2 isoform a	140	Lumenal (Potential).				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity				0						ATGAAGGCACGACTGTATAGC	0.512													A	52003054	G	A	52003054	3	1	239	1	0	0	0	0	1	0	0	0	1007	1058	37	1	1996	1	ASAH2	10	52003054	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	175167	52003054	83531693	35	121111											
ANK3	288	broad.mit.edu	37	chr10	61932869	61932869	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttttggcattaacttttgCagaatgctggagcaggaaat	11	5	0	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:61932869C>G	uc001jky.2	-	19	2452	c.2260G>C	c.(2260-2262)GCA>CCA	p.A754P	ANK3_uc001jkx.2_5'Flank|ANK3_uc010qih.1_Missense_Mutation_p.A737P|ANK3_uc001jkz.3_Missense_Mutation_p.A748P|ANK3_uc001jlb.1_Missense_Mutation_p.A283P|ANK3_uc001jlc.1_Missense_Mutation_p.A415P	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	754	ANK 21.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTAACTTTTGCAGAATGCTGG	0.343													G	61932869	C	G	61932869	3	3	239	1	0	0	0	0	1	0	0	0	622	710	25	5	11306	5	ANK3	10	61932869	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	9929815	61932869	73601878	36	121112											
PTEN	5728	broad.mit.edu	37	chr10	89653785	89653785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaactaaagtactcagataTttatccaaacattattgcta	3	7	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:89653785T>G	uc001kfb.2	+	3	1114	c.83T>G	c.(82-84)ATT>AGT	p.I28S		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	28	Phosphatase 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.?(4)|p.Y27fs*1(3)|p.Y27_N212>Y(2)|p.I28M(1)|p.I28fs*17(1)|p.Y29fs*25(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		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)		TACTCAGATATTTATCCAAAC	0.294		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89653785	T	G	89653785	3	3	239	1	0	0	0	0	1	0	0	0	12738	1493	52	5	89	5	PTEN	10	89653785	Missense_Mutation	SNP	T	TCGA-FP-7735-01A-11D-2053-08	27720916	89653785	45880962	37	121113											
IFIT1	3434	broad.mit.edu	37	chr10	91162119	91162119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagttatccattgatgaCgatgaaatgcctgatttaga	11	5	0	5			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:91162119C>T	uc001kgi.2	+	2	235	c.87C>T	c.(85-87)GAC>GAT	p.D29D	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|IFIT1_uc009xtt.2_Silent_p.D29D|IFIT1_uc001kgj.2_Translation_Start_Site	NM_001548	NP_001539	P09914	IFIT1_HUMAN	interferon-induced protein with	29					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding				0						CCATTGATGACGATGAAATGC	0.383													T	91162119	C	T	91162119	2	4	239	1	0	0	0	0	0	0	0	1	7521	535	19	1		1	IFIT1	10	91162119	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08	1508334	91162119	44372628	38	121114											
LBX1	10660	broad.mit.edu	37	chr10	102987212	102987212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgcagccgccgccacCgccggctgtggcctccgagt	13	20	0	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:102987212C>T	uc001ksx.2	-	2	806	c.661G>A	c.(661-663)GGT>AGT	p.G221S	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	221	Poly-Gly.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CCGCCGCCACCGCCGGCTGTG	0.741													T	102987212	C	T	102987212	3	4	239	1	0	0	0	0	1	0	0	0	8653	652	23	1	188	1	LBX1	10	102987212	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	11825093	102987212	32547535	39	121115											
C10orf82	143379	broad.mit.edu	37	chr10	118424407	118424407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctctcggcaggtagcctGcccagccagggatcgggggc	17	13	1	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:118424407G>T	uc001lcr.2	-	4	381	c.326C>A	c.(325-327)GCA>GAA	p.A109E	C10orf82_uc001lcs.1_3'UTR	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	hypothetical protein LOC143379	109											0				all cancers(201;0.0143)		CAGGTAGCCTGCCCAGCCAGG	0.493													T	118424407	G	T	118424407	3	4	239	1	0	0	0	0	1	0	0	0	1620	1319	46	5	146	5	C10orf82	10	118424407	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	15437195	118424407	17110340	40	121116											
C10orf120	399814	broad.mit.edu	37	chr10	124457429	124457429	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcggtttgttaggcctgcGatggaccgttccggtttctt	12	9	1	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr10:124457429G>A	uc001lgn.2	-	3	860	c.828C>T	c.(826-828)ATC>ATT	p.I276I		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	276										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				TTAGGCCTGCGATGGACCGTT	0.398													A	124457429	G	A	124457429	2	1	239	1	0	0	0	0	0	0	0	1	1590	1048	37	1		1	C10orf120	10	124457429	Silent	SNP	G	TCGA-FP-7735-01A-11D-2053-08	6033022	124457429	11077318	41	121117											
OR52A4	390053	broad.mit.edu	37	chr11	5142176	5142176	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaagtcaagcccaccAacaataaatgctccaaggat	6	10	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr11:5142176A>G	uc001lzz.1	-	1	633	c.633T>C	c.(631-633)GTT>GTC	p.V211V		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAGCCCACCAACAATAAATG	0.393													G	5142176	A	G	5142176	2	3	239	1	0	0	0	0	0	0	0	1	11109	117	5	3		3	OR52A4	11	5142176	Silent	SNP	A	TCGA-FP-7735-01A-11D-2053-08		5142176	129864340	42	121118											
SLC17A6	57084	broad.mit.edu	37	chr11	22363309	22363309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaccatccaccgcgggGgcaaggtcatcaaggaggtg	14	12	2	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr11:22363309G>A	uc001mqk.2	+	2	735	c.322G>A	c.(322-324)GGC>AGC	p.G108S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	108	Vesicular (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CCACCGCGGGGGCAAGGTCAT	0.627													A	22363309	G	A	22363309	3	1	239	1	0	0	0	0	1	0	0	0	14421	1232	43	4	328	4	SLC17A6	11	22363309	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	17221133	22363309	112643207	43	121119											
OR8H3	390152	broad.mit.edu	37	chr11	55890333	55890333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctttgtcaatgtggtttCcatgagcagattgcatttct	8	9	2	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr11:55890333C>T	uc001nii.1	+	1	485	c.485C>T	c.(484-486)TCC>TTC	p.S162F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					AATGTGGTTTCCATGAGCAGA	0.438													T	55890333	C	T	55890333	3	4	239	1	0	0	0	0	1	0	0	0	11239	855	30	4	487	4	OR8H3	11	55890333	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	33527024	55890333	79116183	44	121120											
FAM86C	55199	broad.mit.edu	37	chr11	71498623	71498624	+	Frame_Shift_Del	DEL	AG	AG	-													ggggagcgaactcttgctgcAgagtttcaagcgccgcttcc							TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr11:71498623_71498624delAG	uc001oqv.3	+	1	67_68	c.41_42delAG	c.(40-42)CAGfs	p.Q14fs	FAM86C_uc009ysr.2_Frame_Shift_Del_p.Q14fs|FAM86C_uc001oqw.3_Frame_Shift_Del_p.Q14fs|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN	hypothetical protein LOC55199 isoform 1	14											0						CTCTTGCTGCAGAGTTTCAAGC	0.644													-	71498624	AG	-	71498623	7	5	239	1	0	1	0	1	0	0	0	0	5646	188	7	0	43	0	FAM86C	11	71498623	Frame_Shift_Del	DEL	AG	TCGA-FP-7735-01A-11D-2053-08	15608290	71498623	63507893	45	121121											
HTR3A	3359	broad.mit.edu	37	chr11	113853876	113853876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccaaatatcccgtacGtgtatattcggcatcaaggc	8	11	2	0	rs139646314		TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr11:113853876G>A	uc010rxb.1	+	5	660	c.427G>A	c.(427-429)GTG>ATG	p.V143M	HTR3A_uc010rxa.1_Missense_Mutation_p.V143M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V122M	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	137	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		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)	TATCCCGTACGTGTATATTCG	0.532													A	113853876	G	A	113853876	3	1	239	1	0	0	0	0	1	0	0	0	7444	1145	40	1	471	1	HTR3A	11	113853876	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	42355253	113853876	21152640	46	121122											
CLEC9A	283420	broad.mit.edu	37	chr12	10215774	10215774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttaaaggaaggttccaCgctgctacaaatagagagca	10	7	0	1	rs149852205		TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr12:10215774C>T	uc001qxa.2	+	7	1053	c.440C>T	c.(439-441)ACG>ATG	p.T147M		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	147	Extracellular (Potential).|C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1						GAAGGTTCCACGCTGCTACAA	0.348													T	10215774	C	T	10215774	3	4	239	1	0	0	0	0	1	0	0	0	3522	536	19	1	454	1	CLEC9A	12	10215774	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08		10215774	123636121	47	121123											
ERBB3	2065	broad.mit.edu	37	chr12	56495354	56495354	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaccctttcttcagtgggtCtcagttctgtcctgggtact	10	12	4	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr12:56495354C>G	uc001sjh.2	+	28	3737	c.3544C>G	c.(3544-3546)CTC>GTC	p.L1182V	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.L539V|ERBB3_uc010sqc.1_Missense_Mutation_p.L1123V|ERBB3_uc009zok.2_Missense_Mutation_p.L447V|ERBB3_uc001sjk.2_Missense_Mutation_p.L423V|ERBB3_uc001sjl.2_Missense_Mutation_p.L302V|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1182	Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TTCAGTGGGTCTCAGTTCTGT	0.517													G	56495354	C	G	56495354	3	3	239	1	0	0	0	0	1	0	0	0	5208	913	32	5	3785	5	ERBB3	12	56495354	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	46279580	56495354	77356541	48	121124											
LATS2	26524	broad.mit.edu	37	chr13	21555776	21555776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctccatgctgtcctgtcTgacatggctcccttcaccca	9	16	2	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr13:21555776T>C	uc009zzs.2	-	6	2859	c.2494A>G	c.(2494-2496)AGA>GGA	p.R832G	LATS2_uc001unr.3_Missense_Mutation_p.R832G	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	832	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			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		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)		CTGTCCTGTCTGACATGGCTC	0.493													C	21555776	T	C	21555776	3	2	239	1	0	0	0	0	1	0	0	0	8647	1588	55	3	784	3	LATS2	13	21555776	Missense_Mutation	SNP	T	TCGA-FP-7735-01A-11D-2053-08		21555776	93614102	49	121125											
KIAA1704	55425	broad.mit.edu	37	chr13	45578502	45578502	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagattcatcagacagcgatGaagacagtagttctttgtac	9	8	3	4			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr13:45578502G>A	uc001uzq.2	+	2	254	c.151G>A	c.(151-153)GAA>AAA	p.E51K	KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.E51K|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'Flank	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	hypothetical protein LOC55425	51										pancreas(1)|skin(1)	2		Lung NSC(96;0.00143)|Prostate(109;0.0137)|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;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		AGACAGCGATGAAGACAGTAG	0.388													A	45578502	G	A	45578502	3	1	239	1	0	0	0	0	1	0	0	0	8252	1291	45	4	157	4	KIAA1704	13	45578502	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	24022726	45578502	69591376	50	121126											
KIF26A	26153	broad.mit.edu	37	chr14	104642071	104642071	+	Frame_Shift_Del	DEL	G	G	-													gtggcacggacccctcccgtGggcatgagtgggcaggtggc							TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr14:104642071delG	uc001yos.3	+	12	2946	c.2946delG	c.(2944-2946)GTGfs	p.V982fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	982					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCTCCCGTGGGCATGAGTG	0.716													-	104642071	G	-	104642071	7	5	239	1	0	1	0	1	0	0	0	0	8294	1335	47	0	2992	0	KIF26A	14	104642071	Frame_Shift_Del	DEL	G	TCGA-FP-7735-01A-11D-2053-08		104642071	2707469	51	121127											
CDAN1	146059	broad.mit.edu	37	chr15	43021535	43021535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactactgcctgacacccaCgaagcgagcagtttccggag	10	15	0	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr15:43021535C>T	uc001zql.2	-	18	2550	c.2433G>A	c.(2431-2433)TCG>TCA	p.S811S	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.S137S	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	811						integral to membrane	protein binding			ovary(2)	2		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)		CTGACACCCACGAAGCGAGCA	0.567													T	43021535	C	T	43021535	2	4	239	1	0	0	0	0	0	0	0	1	3054	523	19	1		1	CDAN1	15	43021535	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08		43021535	59509857	52	121128											
ANPEP	290	broad.mit.edu	37	chr15	90347484	90347484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccgagatgggggtctacCtggtgggccagctcatgagc	15	12	2	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr15:90347484C>A	uc002bop.3	-	6	1471	c.1179G>T	c.(1177-1179)CAG>CAT	p.Q393H		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	393	Extracellular.|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			ovary(3)|skin(1)	4	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)	GGGGGTCTACCTGGTGGGCCA	0.642													A	90347484	C	A	90347484	3	1	239	1	0	0	0	0	1	0	0	0	710	695	24	5	1788	5	ANPEP	15	90347484	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	47325949	90347484	12183908	53	121129											
EEF2K	29904	broad.mit.edu	37	chr16	22268610	22268610	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttttgagcgttccggccatCagctgatagtggtggacatc	12	10	1	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr16:22268610C>T	uc002dki.2	+	8	1290	c.805C>T	c.(805-807)CAG>TAG	p.Q269*	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	269	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			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		TTCCGGCCATCAGCTGATAGT	0.562													T	22268610	C	T	22268610	4	4	239	1	0	0	0	0	0	1	0	0	4930	827	29	4	831	4	EEF2K	16	22268610	Nonsense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08		22268610	68086143	54	121130											
WSCD1	23302	broad.mit.edu	37	chr17	6021341	6021341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggaccactggcggagccGacgcaccatctgtgtcaaaa	11	12	2	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr17:6021341G>A	uc010cli.2	+	8	1587	c.1208G>A	c.(1207-1209)CGA>CAA	p.R403Q	WSCD1_uc002gcn.2_Missense_Mutation_p.R403Q|WSCD1_uc002gco.2_Missense_Mutation_p.R403Q|WSCD1_uc010clj.2_Missense_Mutation_p.R94Q	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	403						integral to membrane	sulfotransferase activity				0						TGGCGGAGCCGACGCACCATC	0.557													A	6021341	G	A	6021341	3	1	239	1	0	0	0	0	1	0	0	0	17403	1058	37	1	1234	1	WSCD1	17	6021341	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08		6021341	75173869	55	121131											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	2	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr17:7578413C>T	uc002gim.2	-	5	711	c.517G>A	c.(517-519)GTG>ATG	p.V173M	TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.2_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.1_Missense_Mutation_p.V134M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	173	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CAGCGCCTCACAACCTCCGTC	0.662		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578413	C	T	7578413	3	4	239	1	0	0	0	0	1	0	0	0	16378	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	1557072	7578413	73616797	56	121132											
NDEL1	81565	broad.mit.edu	37	chr17	8349043	8349043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattagcttccaggaagctcGggatgagctagttgaattcc	12	8	0	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr17:8349043G>A	uc002glj.2	+	3	298	c.101G>A	c.(100-102)CGG>CAG	p.R34Q	NDEL1_uc002gli.2_Missense_Mutation_p.R34Q	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	nudE nuclear distribution gene E homolog (A.	34	Potential.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle					0						CAGGAAGCTCGGGATGAGCTA	0.423													A	8349043	G	A	8349043	3	1	239	1	0	0	0	0	1	0	0	0	10244	1116	39	1	107	1	NDEL1	17	8349043	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	770630	8349043	72846167	57	121133											
ALDH3A2	224	broad.mit.edu	37	chr17	19555900	19555900	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgaactgagtgaaaaTacagccaagatcttggcaaa	8	9	2	4			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr17:19555900T>A	uc002gwb.1	+	3	647	c.426T>A	c.(424-426)AAT>AAA	p.N142K	ALDH3A2_uc002gwa.1_Missense_Mutation_p.N142K|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Missense_Mutation_p.N142K	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	142	Cytoplasmic.				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 (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TGAGTGAAAATACAGCCAAGA	0.333													A	19555900	T	A	19555900	3	1	239	1	0	0	0	0	1	0	0	0	498	1403	49	5	436	5	ALDH3A2	17	19555900	Missense_Mutation	SNP	T	TCGA-FP-7735-01A-11D-2053-08	11206857	19555900	61639310	58	121134											
KPNB1	3837	broad.mit.edu	37	chr17	45757454	45757454	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaccacattgctggagatGaggatcacacagatggagta	12	7	1	4			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr17:45757454G>A	uc002ilt.1	+	20	2758	c.2422G>A	c.(2422-2424)GAG>AAG	p.E808K	KPNB1_uc010wkw.1_Missense_Mutation_p.E663K|KPNB1_uc010wkx.1_Missense_Mutation_p.E592K	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	808					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TGCTGGAGATGAGGATCACAC	0.393													A	45757454	G	A	45757454	3	1	239	1	0	0	0	0	1	0	0	0	8435	1291	45	4	2500	4	KPNB1	17	45757454	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	26201554	45757454	35437756	59	121135											
MUC16	94025	broad.mit.edu	37	chr19	9018164	9018164	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtctgcagccagagtacaGaaggccaacactggtgttct	11	11	2	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:9018164G>A	uc002mkp.2	-	25	37978	c.37774C>T	c.(37774-37776)CTG>TTG	p.L12592L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12594	SEA 4.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCAGAGTACAGAAGGCCAACA	0.537													A	9018164	G	A	9018164	2	1	239	1	0	0	0	0	0	0	0	1	9973	933	33	4		4	MUC16	19	9018164	Silent	SNP	G	TCGA-FP-7735-01A-11D-2053-08		9018164	50110819	60	121136											
PDE4A	5141	broad.mit.edu	37	chr19	10568647	10568647	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcccagccgcccccgCcccctgtaccacacttacag	6	23	0	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:10568647C>G	uc002moj.2	+	8	1078	c.970C>G	c.(970-972)CCC>GCC	p.P324A	PDE4A_uc002mok.2_Missense_Mutation_p.P298A|PDE4A_uc002mol.2_Missense_Mutation_p.P263A|PDE4A_uc002mom.2_Missense_Mutation_p.P85A|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	324					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			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)	GCCGCCCCCGCCCCCTGTACC	0.522													G	10568647	C	G	10568647	3	3	239	1	0	0	0	0	1	0	0	0	11639	739	26	5	1457	5	PDE4A	19	10568647	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	1550483	10568647	48560336	61	121137											
PRKCSH	5589	broad.mit.edu	37	chr19	11556203	11556203	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagaggtggcttctttacaGagcagctggctgctgccaag	13	10	1	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:11556203G>A	uc002mrt.2	+	8	935	c.599_splice	c.e8-1	p.E200_splice	PRKCSH_uc002mru.2_Splice_Site_p.E200_splice|PRKCSH_uc010xlz.1_Splice_Site_p.E200_splice|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Splice_Site_p.E200_splice|PRKCSH_uc010dyb.2_Splice_Site_p.E200_splice	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1						innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CTTCTTTACAGAGCAGCTGGC	0.572													A	11556203	G	A	11556203	5	1	239	1	0	0	0	0	0	0	1	0	12516	956	33	4	624	4	PRKCSH	19	11556203	Splice_Site	SNP	G	TCGA-FP-7735-01A-11D-2053-08	987556	11556203	47572780	62	121138											
CPAMD8	27151	broad.mit.edu	37	chr19	17122279	17122279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagctgatctcaccttctCgttgacaggcctcagatttg	9	11	3	4			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:17122279C>T	uc002nfb.2	-	5	654	c.622G>A	c.(622-624)GAG>AAG	p.E208K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	161						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CTCACCTTCTCGTTGACAGGC	0.572													T	17122279	C	T	17122279	3	4	239	1	0	0	0	0	1	0	0	0	3795	893	31	1	5328	1	CPAMD8	19	17122279	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	5566076	17122279	42006704	63	121139											
KIRREL2	84063	broad.mit.edu	37	chr19	36349318	36349318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgactccagggtggtccCggtactggatatcagggaat	13	11	1	1	rs143964977		TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:36349318C>T	uc002ocb.3	+	3	432	c.220C>T	c.(220-222)CGG>TGG	p.R74W	KIRREL2_uc002obz.3_Missense_Mutation_p.R74W|KIRREL2_uc002oca.3_Missense_Mutation_p.R24W|KIRREL2_uc002occ.3_Missense_Mutation_p.R21W|KIRREL2_uc002ocd.3_Missense_Mutation_p.R71W	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	74	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)			AGGGTGGTCCCGGTACTGGAT	0.552													T	36349318	C	T	36349318	3	4	239	1	0	0	0	0	1	0	0	0	8325	643	23	1	230	1	KIRREL2	19	36349318	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08	19227039	36349318	22779665	64	121140											
APLP1	333	broad.mit.edu	37	chr19	36370317	36370317	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggctatgagaaccccactTaccgcttcctggaggaacga	10	13	0	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:36370317T>C	uc002oce.2	+	17	2065	c.1927T>C	c.(1927-1929)TAC>CAC	p.Y643H	APLP1_uc010xsz.1_Missense_Mutation_p.Y604H|APLP1_uc002ocf.2_Missense_Mutation_p.Y644H|APLP1_uc002ocg.2_Missense_Mutation_p.Y547H|APLP1_uc010xta.1_Missense_Mutation_p.Y637H	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	643	Clathrin-binding (Potential).|NPXY motif; contains endocytosis signal.|Cytoplasmic (Potential).				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			ovary(2)	2	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)			GAACCCCACTTACCGCTTCCT	0.657													C	36370317	T	C	36370317	3	2	239	1	0	0	0	0	1	0	0	0	778	1754	61	3	1996	3	APLP1	19	36370317	Missense_Mutation	SNP	T	TCGA-FP-7735-01A-11D-2053-08	20999	36370317	22758666	65	121141											
SLC6A16	28968	broad.mit.edu	37	chr19	49797748	49797748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtaaagcaggttgacaGggggcttggcatcaggaggc	18	6	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:49797748G>A	uc002pmz.2	-	8	1526	c.1292C>T	c.(1291-1293)CCT>CTT	p.P431L	SLC6A16_uc002pna.2_Missense_Mutation_p.P431L	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	431	Extracellular (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAGGTTGACAGGGGGCTTGGC	0.502													A	49797748	G	A	49797748	3	1	239	1	0	0	0	0	1	0	0	0	14679	1000	35	4	938	4	SLC6A16	19	49797748	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	13427431	49797748	9331235	66	121142											
TEAD2	8463	broad.mit.edu	37	chr19	49850456	49850456	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgagaactcacccagaacttGaccaggaagaaggcatgggg	13	9	1	4			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr19:49850456G>C	uc002pnj.2	-	9	991	c.900C>G	c.(898-900)GTC>GTG	p.V300V	TEAD2_uc002png.2_Silent_p.V303V|TEAD2_uc002pnh.2_Silent_p.V304V|TEAD2_uc002pni.2_Silent_p.V303V|TEAD2_uc010yao.1_Silent_p.V172V|TEAD2_uc010emw.2_Silent_p.V303V	NM_003598	NP_003589	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)|ovary(1)	3		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													C	49850456	G	C	49850456	2	2	239	1	0	0	0	0	0	0	0	1	15736	1277	45	5		5	TEAD2	19	49850456	Silent	SNP	G	TCGA-FP-7735-01A-11D-2053-08	52708	49850456	9278527	67	121143											
UMODL1	89766	broad.mit.edu	37	chr21	43531059	43531059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggtcccaggtcttggcaCgggaacagcagccctcggcc	13	15	1	0			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr21:43531059C>T	uc002zaf.1	+	11	1727	c.1727C>T	c.(1726-1728)ACG>ATG	p.T576M	UMODL1_uc002zad.1_Missense_Mutation_p.T504M|UMODL1_uc002zae.1_Missense_Mutation_p.T504M|UMODL1_uc002zag.1_Missense_Mutation_p.T576M|C21orf128_uc002zak.2_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	576	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						GGTCTTGGCACGGGAACAGCA	0.657													T	43531059	C	T	43531059	3	4	239	1	0	0	0	0	1	0	0	0	16977	536	19	1	1769	1	UMODL1	21	43531059	Missense_Mutation	SNP	C	TCGA-FP-7735-01A-11D-2053-08		43531059	4598836	68	121144											
LGALS1	3956	broad.mit.edu	37	chr22	38074508	38074508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcgtgctgaacctgggCaaagacagcaacaacctgtg	11	11	0	2	rs111593545		TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chr22:38074508C>T	uc003atn.2	+	3	205	c.108C>T	c.(106-108)GGC>GGT	p.G36G		NM_002305	NP_002296	P09382	LEG1_HUMAN	galectin-1	36	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity				0	Melanoma(58;0.0574)					TGAACCTGGGCAAAGACAGCA	0.622													T	38074508	C	T	38074508	2	4	239	1	0	0	0	0	0	0	0	1	8738	697	25	2		2	LGALS1	22	38074508	Silent	SNP	C	TCGA-FP-7735-01A-11D-2053-08		38074508	13230058	69	121145											
SAGE1	55511	broad.mit.edu	37	chrX	134986673	134986673	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcatttgtgaagagaggatAaataacggccaaccagtagc	11	7	0	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chrX:134986673A>T	uc004ezh.2	+	4	425	c.258A>T	c.(256-258)ATA>ATT	p.I86I	SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.1_Silent_p.I86I	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	86										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAGGATAAATAACGGCC	0.448													T	134986673	A	T	134986673	2	4	239	1	0	0	0	0	0	0	0	1	13809	352	13	5		5	SAGE1	23	134986673	Silent	SNP	A	TCGA-FP-7735-01A-11D-2053-08		134986673	20283887	70	121146											
MAGEC1	9947	broad.mit.edu	37	chrX	140994453	140994453	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccttctcctctactttattGagtattttacagagttctcc	4	11	3	2			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chrX:140994453G>C	uc004fbt.2	+	4	1549	c.1263G>C	c.(1261-1263)TTG>TTC	p.L421F	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	421							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTTTATTGAGTATTTTAC	0.463										HNSCC(15;0.026)			C	140994453	G	C	140994453	3	2	239	1	0	0	0	0	1	0	0	0	9180	1281	45	5	1269	5	MAGEC1	23	140994453	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	6007780	140994453	14276107	71	121147											
L1CAM	3897	broad.mit.edu	37	chrX	153134082	153134082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccaggcagaagtagcGtccggtgtcattggcctgga	16	10	1	1			TCGA-FP-7735-01A-11D-2053-08	TCGA-FP-7735-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe717798-d698-49c2-bbc9-e0c5679505c1	2610c0da-b6d7-4109-9949-6a1023488172	g.chrX:153134082G>A	uc004fjb.2	-	12	1588	c.1480C>T	c.(1480-1482)CGC>TGC	p.R494C	L1CAM_uc004fjc.2_Missense_Mutation_p.R494C|L1CAM_uc010nuo.2_Missense_Mutation_p.R489C|L1CAM_uc004fjd.1_Missense_Mutation_p.R308C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	494	Extracellular (Potential).|Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					CAGAAGTAGCGTCCGGTGTCA	0.557													A	153134082	G	A	153134082	3	1	239	1	0	0	0	0	1	0	0	0	8588	1145	40	1	2361	1	L1CAM	23	153134082	Missense_Mutation	SNP	G	TCGA-FP-7735-01A-11D-2053-08	12139629	153134082	2136478	72	121148											
NPHP4	261734	broad.mit.edu	37	chr1	5925294	5925294	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgctgcagggagtggaggtaGacctgccacgtctgtgtggg	18	9	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:5925294G>T	uc001alq.1	-	27	3950	c.3684C>A	c.(3682-3684)GTC>GTA	p.V1228V	NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1228					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		AGTGGAGGTAGACCTGCCACG	0.647													T	5925294	G	T	5925294	2	4	240	1	0	0	0	0	0	0	0	1	10581	929	33	5		5	NPHP4	1	5925294	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08		5925294	243325327	1	121149											
PRDM2	7799	broad.mit.edu	37	chr1	14057566	14057566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgctgcgaggacttccGgaggaagtgaggcttttccc	14	10	0	1	rs146413934		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:14057566G>A	uc001avi.2	+	3	937	c.81G>A	c.(79-81)CCG>CCA	p.P27P	PRDM2_uc001avg.2_Silent_p.P27P|PRDM2_uc001avh.2_Silent_p.P27P|PRDM2_uc001avj.2_RNA	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	27	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		GAGGACTTCCGGAGGAAGTGA	0.562													A	14057566	G	A	14057566	2	1	240	1	0	0	0	0	0	0	0	1	12458	1103	39	1		1	PRDM2	1	14057566	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	8132272	14057566	235193055	2	121150											
CELA2B	51032	broad.mit.edu	37	chr1	15802967	15802967	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagccctcagttgtggggTctccacttacgcgcctgata	10	14	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:15802967T>A	uc001awl.2	+	2	81	c.56T>A	c.(55-57)GTC>GAC	p.V19D		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	19					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						AGTTGTGGGGTCTCCACTTAC	0.527													A	15802967	T	A	15802967	3	1	240	1	0	0	0	0	1	0	0	0	3212	1667	58	5	62	5	CELA2B	1	15802967	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	1745401	15802967	233447654	3	121151											
USP48	84196	broad.mit.edu	37	chr1	22007310	22007312	+	In_Frame_Del	DEL	CTT	CTT	-													atgtaacttacctttaaaccCttcttctggcatacaaactg							TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:22007309_22007311CCTT>C	uc010odq.2	-	25	3349_3351	c.3111_3113AAGG>G	c.(3109-3114)gaaggg>gaGg	p.G1038del	USP48_uc001bfa.3_In_Frame_Del_p.G512del|USP48_uc001bfb.3_In_Frame_Del_p.G1026del|USP48_uc009vqc.3_In_Frame_Del_p.G960del|USP48_uc001bfc.3_In_Frame_Del_p.G974del	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	1026					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)		ACCTTTAAACCCTTCTTCTGGCA	0.291													-	22007312	CTT	-	22007310	7	5	240	1	0	1	0	1	0	0	0	0	17076	681	24	0	39	0	USP48	1	22007310	In_Frame_Del	DEL	CTT	TCGA-FP-7829-01A-11D-2053-08	6204343	22007310	227243311	4	121152											
CLIC4	25932	broad.mit.edu	37	chr1	25167282	25167282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtggtggccaaaaaatatCgcaactttgatattccaaaa	8	7	0	1	rs145958058	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:25167282C>T	uc001bjo.2	+	6	901	c.616C>T	c.(616-618)CGC>TGC	p.R206C	CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Missense_Mutation_p.R186C	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	206	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CAAAAAATATCGCAACTTTGA	0.378													T	25167282	C	T	25167282	3	4	240	1	0	0	0	0	1	0	0	0	3528	884	31	1	638	1	CLIC4	1	25167282	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	3159972	25167282	224083339	5	121153											
PHACTR4	65979	broad.mit.edu	37	chr1	28800582	28800582	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctcattcgttgctttttgAaaacagtgacagcttttctg	8	8	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:28800582A>T	uc001bpw.2	+	7	1622	c.1340A>T	c.(1339-1341)GAA>GTA	p.E447V	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.E431V|PHACTR4_uc001bpy.2_Missense_Mutation_p.E457V	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	447							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTTTTTGAAAACAGTGAC	0.488													T	28800582	A	T	28800582	3	4	240	1	0	0	0	0	1	0	0	0	11812	246	9	5	1412	5	PHACTR4	1	28800582	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	3633300	28800582	220450039	6	121154											
SFRS4	6429	broad.mit.edu	37	chr1	29481422	29481422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctgcctgacgcatataatCctgaagaaaaaaaaaagtgt	7	8	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:29481422C>T	uc001bro.2	-	4	737	c.364G>A	c.(364-366)GAT>AAT	p.D122N	SFRS4_uc010ofy.1_Intron|SFRS4_uc009vtp.2_RNA	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	122	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		CGCATATAATCCTGAAGAAAA	0.348													T	29481422	C	T	29481422	3	4	240	1	0	0	0	0	1	0	0	0	14179	869	30	4	1132	4	SFRS4	1	29481422	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	680840	29481422	219769199	7	121155											
GRIK3	2899	broad.mit.edu	37	chr1	37291214	37291214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgccttacctggcgatgaCgaagaggacacagctgaccc	11	12	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:37291214C>A	uc001caz.2	-	11	1879	c.1744G>T	c.(1744-1746)GTC>TTC	p.V582F	GRIK3_uc001cba.1_Missense_Mutation_p.V582F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	582	Helical; (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTGGCGATGACGAAGAGGACA	0.577													A	37291214	C	A	37291214	3	1	240	1	0	0	0	0	1	0	0	0	6775	536	19	5	1039	5	GRIK3	1	37291214	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	7809792	37291214	211959407	8	121156											
MTF1	4520	broad.mit.edu	37	chr1	38289411	38289411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatcttcctgaattgccGtatcatctgaattctggaac	9	9	4	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:38289411G>A	uc001cce.1	-	8	1283	c.1142C>T	c.(1141-1143)ACG>ATG	p.T381M	MTF1_uc009vvj.1_Missense_Mutation_p.T72M	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	381						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGAATTGCCGTATCATCTGA	0.453													A	38289411	G	A	38289411	3	1	240	1	0	0	0	0	1	0	0	0	9922	1145	40	1	1135	1	MTF1	1	38289411	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	998197	38289411	210961210	9	121157											
TIE1	7075	broad.mit.edu	37	chr1	43770806	43770806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggggcgcggcgcacgCgcgtcatctacgtgcacaac	15	14	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:43770806C>T	uc001ciu.2	+	2	422	c.343C>T	c.(343-345)CGC>TGC	p.R115C	TIE1_uc010okd.1_Missense_Mutation_p.R115C|TIE1_uc010oke.1_Missense_Mutation_p.R70C|TIE1_uc009vwq.2_Missense_Mutation_p.R115C|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Missense_Mutation_p.R115C|TIE1_uc010okb.1_Missense_Mutation_p.R115C|TIE1_uc010okc.1_Missense_Mutation_p.R115C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	115	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGCGCACGCGCGTCATCTA	0.701													T	43770806	C	T	43770806	3	4	240	1	0	0	0	0	1	0	0	0	15890	768	27	1	349	1	TIE1	1	43770806	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	5481395	43770806	205479815	10	121158											
BEND5	79656	broad.mit.edu	37	chr1	49224580	49224580	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcactcaccgctgccaAgccgcaggagcagcacgtcc	13	16	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:49224580A>C	uc001crx.3	-	3	781	c.737T>G	c.(736-738)CTT>CGT	p.L246R	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.L77R	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	246										skin(1)	1						ACCGCTGCCAAGCCGCAGGAG	0.577													C	49224580	A	C	49224580	3	2	240	1	0	0	0	0	1	0	0	0	1401	72	3	5	544	5	BEND5	1	49224580	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	5453774	49224580	200026041	11	121159											
ELAVL4	1996	broad.mit.edu	37	chr1	50610646	50610646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagataattagcaccatggaGcctcaggtgtcaaatggtcc	10	9	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:50610646G>T	uc001csb.2	+	2	295	c.27G>T	c.(25-27)GAG>GAT	p.E9D	ELAVL4_uc001cry.3_Missense_Mutation_p.E12D|ELAVL4_uc001crz.3_Missense_Mutation_p.E9D|ELAVL4_uc001csa.3_Missense_Mutation_p.E26D|ELAVL4_uc001csc.3_Missense_Mutation_p.E9D|ELAVL4_uc009vyu.2_Missense_Mutation_p.E14D|ELAVL4_uc010omz.1_Missense_Mutation_p.E14D	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	9					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GCACCATGGAGCCTCAGGTGT	0.373													T	50610646	G	T	50610646	3	4	240	1	0	0	0	0	1	0	0	0	5052	962	34	5	132	5	ELAVL4	1	50610646	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1386066	50610646	198639975	12	121160											
ELAVL4	1996	broad.mit.edu	37	chr1	50642827	50642827	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagaaagccatcaacaCtttaaatggactcagactcc	7	11	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:50642827C>G	uc001csb.2	+	3	585	c.317C>G	c.(316-318)ACT>AGT	p.T106S	ELAVL4_uc001cry.3_Missense_Mutation_p.T109S|ELAVL4_uc001crz.3_Missense_Mutation_p.T106S|ELAVL4_uc001csa.3_Missense_Mutation_p.T123S|ELAVL4_uc001csc.3_Missense_Mutation_p.T106S|ELAVL4_uc009vyu.2_Missense_Mutation_p.T111S|ELAVL4_uc010omz.1_Missense_Mutation_p.T111S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	106	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GCCATCAACACTTTAAATGGA	0.358													G	50642827	C	G	50642827	3	3	240	1	0	0	0	0	1	0	0	0	5052	565	20	5	426	5	ELAVL4	1	50642827	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	32181	50642827	198607794	13	121161											
C1orf173	127254	broad.mit.edu	37	chr1	75097440	75097440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttggagcagtggttggaCgaaatcttctccttctccat	9	10	3	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:75097440C>T	uc001dgg.2	-	7	995	c.776G>A	c.(775-777)CGT>CAT	p.R259H	C1orf173_uc001dgi.3_Missense_Mutation_p.R53H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	259	Poly-Arg.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGTGGTTGGACGAAATCTTCT	0.363													T	75097440	C	T	75097440	3	4	240	1	0	0	0	0	1	0	0	0	2014	536	19	1	3848	1	C1orf173	1	75097440	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	24454613	75097440	174153181	14	121162											
DENND2C	163259	broad.mit.edu	37	chr1	115168270	115168270	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatacccagttggattcTgattcatttttaaagaagtg	8	6	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:115168270T>G	uc001efd.1	-	4	1038	c.336A>C	c.(334-336)TCA>TCC	p.S112S	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.S112S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	112										skin(3)	3	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)		AGTTGGATTCTGATTCATTTT	0.343													G	115168270	T	G	115168270	2	3	240	1	0	0	0	0	0	0	0	1	4430	1567	55	5		5	DENND2C	1	115168270	Silent	SNP	T	TCGA-FP-7829-01A-11D-2053-08	40070830	115168270	134082351	15	121163											
HFE2	148738	broad.mit.edu	37	chr1	145415460	145415460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctctgcactcggcgcacCgcccgcacctgccgcgggga	14	19	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:145415460C>T	uc001eni.2	+	3	604	c.279C>T	c.(277-279)ACC>ACT	p.T93T	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	93					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCGGCGCACCGCCCGCACCT	0.692													T	145415460	C	T	145415460	2	4	240	1	0	0	0	0	0	0	0	1	7082	639	23	1		1	HFE2	1	145415460	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	30247190	145415460	103835161	16	121164											
FLG	2312	broad.mit.edu	37	chr1	152282081	152282081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggaaagaccctgaacGtccagacctttcccctgact	9	13	0	5	rs149721675		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:152282081G>A	uc001ezu.1	-	3	5317	c.5281C>T	c.(5281-5283)CGT>TGT	p.R1761C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCCAGACCTT	0.597									Ichthyosis				A	152282081	G	A	152282081	3	1	240	1	0	0	0	0	1	0	0	0	5922	1145	40	1	6908	1	FLG	1	152282081	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	6866621	152282081	96968540	17	121165											
ASH1L	55870	broad.mit.edu	37	chr1	155307502	155307502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtacgccttcgcagtttCctgcctgatccttcctccag	7	15	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:155307502C>T	uc009wqq.2	-	28	9339	c.8859G>A	c.(8857-8859)AGG>AGA	p.R2953R	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.R2948R	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2953					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TTCGCAGTTTCCTGCCTGATC	0.453													T	155307502	C	T	155307502	2	4	240	1	0	0	0	0	0	0	0	1	1041	854	30	4		4	ASH1L	1	155307502	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	3025421	155307502	93943119	18	121166											
IQGAP3	128239	broad.mit.edu	37	chr1	156521536	156521536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccacaaggaggagatgGtaccgaggggcgacagggag	19	8	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:156521536G>A	uc001fpf.2	-	15	1770	c.1695C>T	c.(1693-1695)TAC>TAT	p.Y565Y	IQGAP3_uc009wsb.1_Silent_p.Y522Y	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	565					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGGAGATGGTACCGAGGGG	0.567													A	156521536	G	A	156521536	2	1	240	1	0	0	0	0	0	0	0	1	7816	1256	44	4		4	IQGAP3	1	156521536	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1214034	156521536	92729085	19	121167											
HAPLN2	60484	broad.mit.edu	37	chr1	156593630	156593630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccactacctcctgccCcccatccacgaggtcattca	6	21	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:156593630C>T	uc001fpn.1	+	4	524	c.117C>T	c.(115-117)CCC>CCT	p.P39P	HAPLN2_uc010phq.1_Silent_p.P39P	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	39	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTGCCCCCCATCCACG	0.682													T	156593630	C	T	156593630	2	4	240	1	0	0	0	0	0	0	0	1	6955	610	22	4		4	HAPLN2	1	156593630	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	72094	156593630	92656991	20	121168											
ETV3L	440695	broad.mit.edu	37	chr1	157069094	157069094	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttctgcagcagctccagGatgaagtgccacagctggat	11	12	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:157069094G>A	uc001fqq.1	-	2	420	c.135C>T	c.(133-135)ATC>ATT	p.I45I		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	45	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCAGCTCCAGGATGAAGTGCC	0.612													A	157069094	G	A	157069094	2	1	240	1	0	0	0	0	0	0	0	1	5280	1164	41	4		4	ETV3L	1	157069094	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	475464	157069094	92181527	21	121169											
OR6Y1	391112	broad.mit.edu	37	chr1	158517014	158517014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggttcctcagacagtaAatgatggggttgaggagtgg	15	5	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:158517014A>C	uc010pil.1	-	1	882	c.882T>G	c.(880-882)ATT>ATG	p.I294M		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	294	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCAGACAGTAAATGATGGGGT	0.453													C	158517014	A	C	158517014	3	2	240	1	0	0	0	0	1	0	0	0	11213	10	1	5	97	5	OR6Y1	1	158517014	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	1447920	158517014	90733607	22	121170											
OR6K3	391114	broad.mit.edu	37	chr1	158687639	158687639	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagtcattgagatggccttCttttcactgatgaggttgga	11	8	3	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:158687639C>A	uc010pip.1	-	1	315	c.315G>T	c.(313-315)AAG>AAT	p.K105N		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	105	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AGATGGCCTTCTTTTCACTGA	0.443													A	158687639	C	A	158687639	3	1	240	1	0	0	0	0	1	0	0	0	11203	912	32	5	682	5	OR6K3	1	158687639	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	170625	158687639	90562982	23	121171											
CD247	919	broad.mit.edu	37	chr1	167400933	167400933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgttagcgagggggcagGgcctgcatgtgaagggcgtc	20	8	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:167400933G>A	uc001gei.3	-	8	625	c.480C>T	c.(478-480)GCC>GCT	p.A160A	CD247_uc001gej.3_Silent_p.A159A	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	160	Cytoplasmic (Potential).				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				0			LUSC - Lung squamous cell carcinoma(543;0.236)			GAGGGGGCAGGGCCTGCATGT	0.547													A	167400933	G	A	167400933	2	1	240	1	0	0	0	0	0	0	0	1	2988	1219	43	4		4	CD247	1	167400933	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	8713294	167400933	81849688	24	121172											
TNN	63923	broad.mit.edu	37	chr1	175086196	175086196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctacacctctgccaaggaCggagagaccagggaggttcc	13	13	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:175086196C>T	uc001gkl.1	+	10	2354	c.2241C>T	c.(2239-2241)GAC>GAT	p.D747D		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	747	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGCCAAGGACGGAGAGACCA	0.637													T	175086196	C	T	175086196	2	4	240	1	0	0	0	0	0	0	0	1	16320	535	19	1		1	TNN	1	175086196	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	7685263	175086196	74164425	25	121173											
FAM20B	9917	broad.mit.edu	37	chr1	179019498	179019498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagcctttcacttggaCaggtgcgtatgatcacagca	11	10	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:179019498C>T	uc001gmc.2	+	3	755	c.462C>T	c.(460-462)GAC>GAT	p.D154D		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor	154	Lumenal (Potential).					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3						TTCACTTGGACAGGTGCGTAT	0.458													T	179019498	C	T	179019498	2	4	240	1	0	0	0	0	0	0	0	1	5538	477	17	4		4	FAM20B	1	179019498	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	3933302	179019498	70231123	26	121174											
ASPM	259266	broad.mit.edu	37	chr1	197093437	197093437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaatttcttcctttaattGatctaagttaagggaaatat	7	5	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:197093437G>A	uc001gtu.2	-	13	3450	c.3193C>T	c.(3193-3195)CAA>TAA	p.Q1065*	ASPM_uc001gtv.2_Nonsense_Mutation_p.Q1065*|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1065	Potential.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TCCTTTAATTGATCTAAGTTA	0.264													A	197093437	G	A	197093437	4	1	240	1	0	0	0	0	0	1	0	0	1056	1299	45	4	7304	4	ASPM	1	197093437	Nonsense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	18073939	197093437	52157184	27	121175											
KIF21B	23046	broad.mit.edu	37	chr1	200956132	200956132	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccatccttacaaagtgctGccccgggtaggcagactgac	10	14	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:200956132G>T	uc001gvs.1	-	25	3923	c.3606C>A	c.(3604-3606)GGC>GGA	p.G1202G	KIF21B_uc001gvr.1_Silent_p.G1202G|KIF21B_uc009wzl.1_Silent_p.G1202G|KIF21B_uc010ppn.1_Silent_p.G1202G	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1202					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						ACAAAGTGCTGCCCCGGGTAG	0.592													T	200956132	G	T	200956132	2	4	240	1	0	0	0	0	0	0	0	1	8289	1306	46	5		5	KIF21B	1	200956132	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3862695	200956132	48294489	28	121176											
PPP1R12B	4660	broad.mit.edu	37	chr1	202318221	202318221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagcttctggcaagagGtgctgatatcaacacggtca	12	8	3	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:202318221G>T	uc001gya.1	+	1	386	c.242G>T	c.(241-243)GGT>GTT	p.G81V	PPP1R12B_uc001gxy.2_Missense_Mutation_p.G81V|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.G81V|PPP1R12B_uc001gxz.1_Missense_Mutation_p.G81V	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	81	ANK 1.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGGCAAGAGGTGCTGATATC	0.597													T	202318221	G	T	202318221	3	4	240	1	0	0	0	0	1	0	0	0	12355	1261	44	5	244	5	PPP1R12B	1	202318221	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1362089	202318221	46932400	29	121177											
FAM71A	149647	broad.mit.edu	37	chr1	212799147	212799147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccctggacaggtgagcGcagccatagctggggcggcc	16	14	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:212799147G>A	uc001hjk.2	+	1	1332	c.928G>A	c.(928-930)GCA>ACA	p.A310T	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	310	Ala-rich.									skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACAGGTGAGCGCAGCCATAGC	0.468													A	212799147	G	A	212799147	3	1	240	1	0	0	0	0	1	0	0	0	5607	1087	38	1	930	1	FAM71A	1	212799147	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	10480926	212799147	36451474	30	121178											
SUSD4	55061	broad.mit.edu	37	chr1	223396725	223396725	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagactttggagcagctcaGaagagcctgagacgctgtca	12	10	2	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:223396725G>T	uc001hnx.2	-	7	1944	c.1310C>A	c.(1309-1311)TCT>TAT	p.S437Y	SUSD4_uc001hny.3_Missense_Mutation_p.S437Y|SUSD4_uc010puw.1_Missense_Mutation_p.S277Y	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	437	Cytoplasmic (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		GAGCAGCTCAGAAGAGCCTGA	0.607													T	223396725	G	T	223396725	3	4	240	1	0	0	0	0	1	0	0	0	15407	942	33	5	170	5	SUSD4	1	223396725	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	10597578	223396725	25853896	31	121179											
ZP4	57829	broad.mit.edu	37	chr1	238048755	238048755	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgttgcccaacactGttgtaggagcagccccaggt	14	11	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:238048755G>A	uc001hym.2	-	8	1096	c.1096C>T	c.(1096-1098)CAG>TAG	p.Q366*	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	366	ZP.|Extracellular (Potential).				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			ovary(2)|skin(1)	3	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)			GCCCAACACTGTTGTAGGAGC	0.537													A	238048755	G	A	238048755	4	1	240	1	0	0	0	0	0	1	0	0	18215	1386	48	4	546	4	ZP4	1	238048755	Nonsense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	14652030	238048755	11201866	32	121180											
FMN2	56776	broad.mit.edu	37	chr1	240256749	240256749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggatcaagaggcggcCggaaccctccctgagccgag	13	16	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:240256749C>T	uc010pyd.1	+	1	1565	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L	FMN2_uc010pye.1_Missense_Mutation_p.P447L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	447					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAGGCGGCCGGAACCCTCC	0.687													T	240256749	C	T	240256749	3	4	240	1	0	0	0	0	1	0	0	0	5950	652	23	1	1342	1	FMN2	1	240256749	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	2207994	240256749	8993872	33	121181											
CEP170	9859	broad.mit.edu	37	chr1	243385112	243385112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgttgcttatccacactacGagactgaaaggaatgttgtc	10	8	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:243385112G>A	uc001hzs.2	-	3	517	c.109C>T	c.(109-111)CGT>TGT	p.R37C	CEP170_uc001hzt.2_Missense_Mutation_p.R37C|CEP170_uc001hzu.2_Missense_Mutation_p.R37C	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	37	FHA.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			TCCACACTACGAGACTGAAAG	0.368													A	243385112	G	A	243385112	3	1	240	1	0	0	0	0	1	0	0	0	3250	1058	37	1	4747	1	CEP170	1	243385112	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3128363	243385112	5865509	34	121182											
OR2C3	81472	broad.mit.edu	37	chr1	247695102	247695102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaacaggtgttgaatgCctttctccgcccttctgctg	11	11	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:247695102C>A	uc009xgy.2	-	2	1074	c.712G>T	c.(712-714)GCA>TCA	p.A238S	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			GTGTTGAATGCCTTTCTCCGC	0.547													A	247695102	C	A	247695102	3	1	240	1	0	0	0	0	1	0	0	0	10993	739	26	5	254	5	OR2C3	1	247695102	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4309990	247695102	1555519	35	121183											
OR2T6	254879	broad.mit.edu	37	chr1	248551279	248551279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggcctatgaccgctacGtggccatctgcaacccactg	9	15	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:248551279G>A	uc001iei.1	+	1	370	c.370G>A	c.(370-372)GTG>ATG	p.V124M		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			TGACCGCTACGTGGCCATCTG	0.567													A	248551279	G	A	248551279	3	1	240	1	0	0	0	0	1	0	0	0	11029	1145	40	1	372	1	OR2T6	1	248551279	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	856177	248551279	699342	36	121184											
OR2G6	391211	broad.mit.edu	37	chr1	248685675	248685675	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcctttgggacctgttcgtCtcacctggttgtggtcatca	12	11	3	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:248685675C>A	uc001ien.1	+	1	728	c.728C>A	c.(727-729)TCT>TAT	p.S243Y		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			ACCTGTTCGTCTCACCTGGTT	0.458													A	248685675	C	A	248685675	3	1	240	1	0	0	0	0	1	0	0	0	11000	913	32	5	730	5	OR2G6	1	248685675	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	134396	248685675	564946	37	121185											
SNTG2	54221	broad.mit.edu	37	chr2	1241788	1241788	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggagctgacacttcagaAcgtgagcacacggtgtttct	12	10	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:1241788A>G	uc002qwq.2	+	10	976	c.848A>G	c.(847-849)AAC>AGC	p.N283S	SNTG2_uc010ewi.2_Missense_Mutation_p.N156S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	283					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	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)		ACACTTCAGAACGTGAGCACA	0.507													G	1241788	A	G	1241788	3	3	240	1	0	0	0	0	1	0	0	0	14875	57	2	3	886	3	SNTG2	2	1241788	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08		1241788	241957585	38	121186											
PQLC3	130814	broad.mit.edu	37	chr2	11300802	11300802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgggaacgtgaagcaggCcactccttacatcgctgtgt	11	11	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:11300802C>T	uc002rbc.2	+	3	411	c.278C>T	c.(277-279)GCC>GTC	p.A93V	PQLC3_uc010yjk.1_Missense_Mutation_p.A93V	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	93						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTGAAGCAGGCCACTCCTTAC	0.507													T	11300802	C	T	11300802	3	4	240	1	0	0	0	0	1	0	0	0	12420	739	26	2	288	2	PQLC3	2	11300802	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	10059014	11300802	231898571	39	121187											
PEX13	5194	broad.mit.edu	37	chr2	61275819	61275819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttggatgaacaggaagctGcctttgaatctgtttttgtt	10	6	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:61275819G>T	uc002sau.3	+	4	1209	c.1126G>T	c.(1126-1128)GCC>TCC	p.A376S		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	376	Cytoplasmic (Potential).				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			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ACAGGAAGCTGCCTTTGAATC	0.393													T	61275819	G	T	61275819	3	4	240	1	0	0	0	0	1	0	0	0	11741	1319	46	5	1140	5	PEX13	2	61275819	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	49975017	61275819	181923554	40	121188											
STEAP3	55240	broad.mit.edu	37	chr2	120005614	120005614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccctgcagctgcggcgCggcaccaagtaccagcgctt	13	16	0	0	rs150323456	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:120005614C>T	uc002tlp.2	+	4	1009	c.852C>T	c.(850-852)CGC>CGT	p.R284R	STEAP3_uc002tlq.2_Silent_p.R294R|STEAP3_uc002tlr.2_Silent_p.R284R|STEAP3_uc010fle.2_Silent_p.R284R	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	284	Ferric oxidoreductase.|Cytoplasmic (Potential).				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			central_nervous_system(2)|skin(1)	3						AGCTGCGGCGCGGCACCAAGT	0.682													T	120005614	C	T	120005614	2	4	240	1	0	0	0	0	0	0	0	1	15278	755	27	1		1	STEAP3	2	120005614	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	58729795	120005614	123193759	41	121189											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521594	125521594	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcattttatacagaagcctcTtacctccactttcctacctt	2	14	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:125521594T>A	uc002tno.2	+	16	2764	c.2400T>A	c.(2398-2400)TCT>TCA	p.S800S	CNTNAP5_uc010flu.2_Silent_p.S801S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	800	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGAAGCCTCTTACCTCCACT	0.428													A	125521594	T	A	125521594	2	1	240	1	0	0	0	0	0	0	0	1	3650	1596	56	5		5	CNTNAP5	2	125521594	Silent	SNP	T	TCGA-FP-7829-01A-11D-2053-08	5515980	125521594	117677779	42	121190											
LRP1B	53353	broad.mit.edu	37	chr2	141072523	141072523	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagaactgatggtacgcaAgttcctccattctggcagta	9	11	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:141072523A>G	uc002tvj.1	-	83	13758	c.12786T>C	c.(12784-12786)ACT>ACC	p.T4262T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4262	Extracellular (Potential).|EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ATGGTACGCAAGTTCCTCCAT	0.358										TSP Lung(27;0.18)			G	141072523	A	G	141072523	2	3	240	1	0	0	0	0	0	0	0	1	8955	59	3	3		3	LRP1B	2	141072523	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	15550929	141072523	102126850	43	121191											
LRP1B	53353	broad.mit.edu	37	chr2	142888247	142888247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacggtcagcaccctggCaatcggcaataatcccgaga	9	15	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:142888247C>A	uc002tvj.1	-	1	1024	c.52G>T	c.(52-54)GCC>TCC	p.A18S	LRP1B_uc010fnl.1_Missense_Mutation_p.A55S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	18					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		AGCACCCTGGCAATCGGCAAT	0.617										TSP Lung(27;0.18)			A	142888247	C	A	142888247	3	1	240	1	0	0	0	0	1	0	0	0	8955	710	25	5	14111	5	LRP1B	2	142888247	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1815724	142888247	100311126	44	121192											
LYPD6B	130576	broad.mit.edu	37	chr2	150064896	150064896	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggataattataactgcaatCgatgggcagaagacaaatgg	12	5	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:150064896C>T	uc002twv.1	+	5	699	c.298C>T	c.(298-300)CGA>TGA	p.R100*	LYPD6B_uc002tww.1_Nonsense_Mutation_p.R62*|LYPD6B_uc002twx.1_Nonsense_Mutation_p.R62*	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	76	UPAR/Ly6.					anchored to membrane|plasma membrane					0						TAACTGCAATCGATGGGCAGA	0.378													T	150064896	C	T	150064896	4	4	240	1	0	0	0	0	0	1	0	0	9115	876	31	1	312	1	LYPD6B	2	150064896	Nonsense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	7176649	150064896	93134477	45	121193											
KCNH7	90134	broad.mit.edu	37	chr2	163374466	163374466	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaagggagaacatttgctGggctgtatcaaagcttttgt	11	7	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:163374466G>T	uc002uch.1	-	4	878	c.666C>A	c.(664-666)CCC>CCA	p.P222P	KCNH7_uc002uci.2_Silent_p.P222P	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	222	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AACATTTGCTGGGCTGTATCA	0.463													T	163374466	G	T	163374466	2	4	240	1	0	0	0	0	0	0	0	1	8037	1335	47	5		5	KCNH7	2	163374466	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	13309570	163374466	79824907	46	121194											
TTN	7273	broad.mit.edu	37	chr2	179438077	179438077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggccagctttatcacgcCgttccacaatataattgatg	8	10	1	1	rs142874389	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:179438077C>T	uc010zfg.1	-	275	65302	c.65078G>A	c.(65077-65079)CGG>CAG	p.R21693Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15388Q|TTN_uc010zfi.1_Missense_Mutation_p.R15321Q|TTN_uc010zfj.1_Missense_Mutation_p.R15196Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22620							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATCACGCCGTTCCACAAT	0.393													T	179438077	C	T	179438077	3	4	240	1	0	0	0	0	1	0	0	0	16732	652	23	1	35345	1	TTN	2	179438077	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	16063611	179438077	63761296	47	121195											
COL5A2	1290	broad.mit.edu	37	chr2	189899659	189899659	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacagagcaagtgtcttgaaGaacgatataccggaatctaa	9	7	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:189899659G>T	uc002uqk.2	-	53	4611	c.4336C>A	c.(4336-4338)CTT>ATT	p.L1446I	COL5A2_uc010frx.2_Missense_Mutation_p.L1022I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1446	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTGTCTTGAAGAACGATATAC	0.353													T	189899659	G	T	189899659	3	4	240	1	0	0	0	0	1	0	0	0	3697	942	33	5	171	5	COL5A2	2	189899659	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	10461582	189899659	53299714	48	121196											
PLCL1	5334	broad.mit.edu	37	chr2	198953756	198953756	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgcaattccagatgtgCagaaaaagatgctgactgct	12	7	0	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:198953756C>T	uc010fsp.2	+	3	3181	c.2890C>T	c.(2890-2892)CAG>TAG	p.Q964*	PLCL1_uc002uuv.3_Nonsense_Mutation_p.Q885*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	964					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TCCAGATGTGCAGAAAAAGAT	0.448													T	198953756	C	T	198953756	4	4	240	1	0	0	0	0	0	1	0	0	12039	711	25	2	2900	2	PLCL1	2	198953756	Nonsense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	9054097	198953756	44245617	49	121197											
MPP4	58538	broad.mit.edu	37	chr2	202519634	202519634	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctcatttactccaacaccaGagggtcctaaacacaaaaag	6	12	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:202519634G>A	uc002uyk.3	-	18	1515	c.1307C>T	c.(1306-1308)TCT>TTT	p.S436F	MPP4_uc002uyi.3_Missense_Mutation_p.S54F|MPP4_uc010ftj.2_Missense_Mutation_p.S429F|MPP4_uc010zhq.1_Missense_Mutation_p.S405F|MPP4_uc010zhr.1_Missense_Mutation_p.S412F|MPP4_uc010zhs.1_Missense_Mutation_p.S361F|MPP4_uc002uyj.3_Missense_Mutation_p.S401F|MPP4_uc010zht.1_Missense_Mutation_p.S378F|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.S392F	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	436	Guanylate kinase-like.					cytoplasm	protein binding				0						TCCAACACCAGAGGGTCCTAA	0.353													A	202519634	G	A	202519634	3	1	240	1	0	0	0	0	1	0	0	0	9736	942	33	4	626	4	MPP4	2	202519634	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3565878	202519634	40679739	50	121198											
ADAM23	8745	broad.mit.edu	37	chr2	207459514	207459514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtgggctatgtagaagatgGaacgccatgtggcccgtcta	14	8	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:207459514G>T	uc002vbq.2	+	23	2355	c.2132G>T	c.(2131-2133)GGA>GTA	p.G711V	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	711	Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTAGAAGATGGAACGCCATGT	0.428													T	207459514	G	T	207459514	3	4	240	1	0	0	0	0	1	0	0	0	245	1174	41	5	2222	5	ADAM23	2	207459514	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	4939880	207459514	35739859	51	121199											
MAP2	4133	broad.mit.edu	37	chr2	210560529	210560529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaccccagatatatccaTcacgccttctgatgttgcag	8	12	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:210560529T>C	uc002vde.1	+	7	3883	c.3635T>C	c.(3634-3636)ATC>ACC	p.I1212T	MAP2_uc002vdc.1_Missense_Mutation_p.I1212T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.I1208T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1212					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	GATATATCCATCACGCCTTCT	0.453													C	210560529	T	C	210560529	3	2	240	1	0	0	0	0	1	0	0	0	9235	1435	50	3	3649	3	MAP2	2	210560529	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	3101015	210560529	32638844	52	121200											
COL6A3	1293	broad.mit.edu	37	chr2	238234360	238234360	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgtctttcggcaacttGcatatatctttaataaaaac	4	10	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:238234360G>T	uc002vwl.2	-	43	9621	c.9336C>A	c.(9334-9336)TGC>TGA	p.C3112*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.C2906*|COL6A3_uc010znj.1_Nonsense_Mutation_p.C2505*|COL6A3_uc002vwj.2_Nonsense_Mutation_p.C493*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	3112	Nonhelical region.|BPTI/Kunitz inhibitor.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		TCGGCAACTTGCATATATCTT	0.418													T	238234360	G	T	238234360	4	4	240	1	0	0	0	0	0	1	0	0	3701	1311	46	5	205	5	COL6A3	2	238234360	Nonsense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	27673831	238234360	4965013	53	121201											
CNTN6	27255	broad.mit.edu	37	chr3	1427425	1427425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccgtaagagcttacaAcactgctgggacagggccct	11	12	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:1427425A>C	uc003boz.2	+	20	2915	c.2648A>C	c.(2647-2649)AAC>ACC	p.N883T	CNTN6_uc011asj.1_Missense_Mutation_p.N811T|CNTN6_uc003bpa.2_Missense_Mutation_p.N883T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	883	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		AGAGCTTACAACACTGCTGGG	0.443													C	1427425	A	C	1427425	3	2	240	1	0	0	0	0	1	0	0	0	3645	43	2	5	2722	5	CNTN6	3	1427425	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08		1427425	196595005	54	121202											
CAV3	859	broad.mit.edu	37	chr3	8787374	8787374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctggggcttcctgttcGcctgcatctccttctgccac	9	16	3	0	rs28936686		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:8787374G>A	uc003bra.2	+	2	344	c.277G>A	c.(277-279)GCC>ACC	p.A93T	C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.A93T	NM_001234	NP_001225	P56539	CAV3_HUMAN	caveolin 3	93	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			lung(1)|breast(1)	2						CTTCCTGTTCGCCTGCATCTC	0.582													A	8787374	G	A	8787374	3	1	240	1	0	0	0	0	1	0	0	0	2695	1087	38	1	283	1	CAV3	3	8787374	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	7359949	8787374	189235056	55	121203											
IRAK2	3656	broad.mit.edu	37	chr3	10276201	10276201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctctgctccaggaagaCgggcgtggagaacgtgatgg	16	10	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:10276201C>T	uc003bve.1	+	11	1407	c.1331C>T	c.(1330-1332)ACG>ATG	p.T444M		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	444	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						TCCAGGAAGACGGGCGTGGAG	0.607													T	10276201	C	T	10276201	3	4	240	1	0	0	0	0	1	0	0	0	7823	536	19	1	1373	1	IRAK2	3	10276201	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1488827	10276201	187746229	56	121204											
TMEM43	79188	broad.mit.edu	37	chr3	14176343	14176343	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcatgtggacatcatTcgccgtggagactttttcta	9	11	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:14176343T>A	uc003byk.2	+	8	911	c.657T>A	c.(655-657)ATT>ATA	p.I219I	TMEM43_uc003byl.1_Silent_p.I99I	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	219	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						TGGACATCATTCGCCGTGGAG	0.547													A	14176343	T	A	14176343	2	1	240	1	0	0	0	0	0	0	0	1	16164	1771	62	5		5	TMEM43	3	14176343	Silent	SNP	T	TCGA-FP-7829-01A-11D-2053-08	3900142	14176343	183846087	57	121205											
SLC25A20	788	broad.mit.edu	37	chr3	48916844	48916844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgattcctgtggtgaataCgccagataacatcccagctg	9	11	0	3	rs150419695		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:48916844C>T	uc003cva.3	-	4	539	c.364G>A	c.(364-366)GTA>ATA	p.V122I	SLC25A20_uc011bbw.1_Missense_Mutation_p.V72I|SLC25A20_uc010hkj.2_Intron	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	122	Helical; Name=3; (Potential).|Solcar 2.				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GTGGTGAATACGCCAGATAAC	0.448													T	48916844	C	T	48916844	3	4	240	1	0	0	0	0	1	0	0	0	14483	536	19	1	565	1	SLC25A20	3	48916844	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	34740501	48916844	149105586	58	121206											
PRKCD	5580	broad.mit.edu	37	chr3	53218979	53218979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttggctgaggccttgaacCaagtcacccaggtgggcagg	14	10	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:53218979C>A	uc003dgl.2	+	10	1230	c.877C>A	c.(877-879)CAA>AAA	p.Q293K	PRKCD_uc003dgm.2_Missense_Mutation_p.Q293K|PRKCD_uc010hmt.1_Missense_Mutation_p.Q65K	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	293					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			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		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)		GGCCTTGAACCAAGTCACCCA	0.607													A	53218979	C	A	53218979	3	1	240	1	0	0	0	0	1	0	0	0	12509	595	21	5	907	5	PRKCD	3	53218979	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4302135	53218979	144803451	59	121207											
IMPG2	50939	broad.mit.edu	37	chr3	100976610	100976610	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtaactgcatagtaaacatCtacgccactatggatggaaa	9	8	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:100976610C>T	uc003duq.1	-	10	1119	c.916G>A	c.(916-918)GAT>AAT	p.D306N	IMPG2_uc011bhe.1_Missense_Mutation_p.D169N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	306	Extracellular (Potential).|SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TAGTAAACATCTACGCCACTA	0.458													T	100976610	C	T	100976610	3	4	240	1	0	0	0	0	1	0	0	0	7729	913	32	4	2849	4	IMPG2	3	100976610	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	47757631	100976610	97045820	60	121208											
C3orf30	152405	broad.mit.edu	37	chr3	118865646	118865646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtctggcgaggctgagCgaagaacttctgagcagatt	14	7	2	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:118865646C>T	uc003ecb.1	+	1	650	c.610C>T	c.(610-612)CGA>TGA	p.R204*	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Nonsense_Mutation_p.R204*	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	204										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		CGAGGCTGAGCGAAGAACTTC	0.517													T	118865646	C	T	118865646	4	4	240	1	0	0	0	0	0	1	0	0	2220	760	27	1	612	1	C3orf30	3	118865646	Nonsense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	17889036	118865646	79156784	61	121209											
POLQ	10721	broad.mit.edu	37	chr3	121178916	121178916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttttgcctgctgcctcAgatcatccccaacagactct	6	16	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:121178916A>G	uc003eee.3	-	25	7262	c.7133T>C	c.(7132-7134)CTG>CCG	p.L2378P	POLQ_uc003eed.2_Missense_Mutation_p.L1550P	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2378					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTGCTGCCTCAGATCATCCCC	0.393								DNA_polymerases_(catalytic_subunits)					G	121178916	A	G	121178916	3	3	240	1	0	0	0	0	1	0	0	0	12208	188	7	3	663	3	POLQ	3	121178916	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	2313270	121178916	76843514	62	121210											
AMOTL2	51421	broad.mit.edu	37	chr3	134090185	134090185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctggatggctagcaGcgtgcgcgtctcagtcaggt	15	11	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:134090185G>A	uc003eqf.2	-	2	382	c.265C>T	c.(265-267)CTG>TTG	p.L89L	AMOTL2_uc003eqg.1_Silent_p.L31L|AMOTL2_uc003eqh.1_Silent_p.L31L	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	31										large_intestine(1)	1						ATGGCTAGCAGCGTGCGCGTC	0.652													A	134090185	G	A	134090185	2	1	240	1	0	0	0	0	0	0	0	1	584	962	34	2		2	AMOTL2	3	134090185	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	12911269	134090185	63932245	63	121211											
PLOD2	5352	broad.mit.edu	37	chr3	145790418	145790418	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attcatcacaggctttttcaGaaaatatggggaaccaaaag	8	7	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:145790418G>C	uc003evs.1	-	16	2221	c.1715C>G	c.(1714-1716)TCT>TGT	p.S572C	PLOD2_uc003evq.1_Missense_Mutation_p.S253C|PLOD2_uc011bnm.1_Missense_Mutation_p.S538C|PLOD2_uc003evr.1_Missense_Mutation_p.S593C	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	572					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	GGCTTTTTCAGAAAATATGGG	0.308													C	145790418	G	C	145790418	3	2	240	1	0	0	0	0	1	0	0	0	12102	942	33	5	514	5	PLOD2	3	145790418	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	11700233	145790418	52232012	64	121212											
GPR171	29909	broad.mit.edu	37	chr3	150916462	150916462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gattcggacaatgtggtaagGaacaaagcatatgatgtagc	12	5	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:150916462G>T	uc003eyq.3	-	3	952	c.712C>A	c.(712-714)CCT>ACT	p.P238T	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_013308	NP_037440	O14626	GP171_HUMAN	G protein-coupled receptor 171	238	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTGGTAAGGAACAAAGCAT	0.413													T	150916462	G	T	150916462	3	4	240	1	0	0	0	0	1	0	0	0	6668	1174	41	5	251	5	GPR171	3	150916462	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	5126044	150916462	47105968	65	121213											
ZBBX	79740	broad.mit.edu	37	chr3	167023731	167023731	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaaatctgtgtttgaAgtttctgctgttaaaaacac	7	6	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:167023731A>C	uc003fep.2	-	17	1748	c.1425T>G	c.(1423-1425)ACT>ACG	p.T475T	ZBBX_uc011bpc.1_Silent_p.T475T|ZBBX_uc003feq.2_Silent_p.T446T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	475						intracellular	zinc ion binding			ovary(2)	2						CTGTGTTTGAAGTTTCTGCTG	0.294													C	167023731	A	C	167023731	2	2	240	1	0	0	0	0	0	0	0	1	17513	59	3	5		5	ZBBX	3	167023731	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	16107269	167023731	30998699	66	121214											
ZBBX	79740	broad.mit.edu	37	chr3	167039914	167039914	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaatacctcctgtgtTttttaagccataatttttcc	4	9	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:167039914T>G	uc003fep.2	-	12	1297	c.974A>C	c.(973-975)AAA>ACA	p.K325T	ZBBX_uc011bpc.1_Missense_Mutation_p.K325T|ZBBX_uc003feq.2_Missense_Mutation_p.K296T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	325						intracellular	zinc ion binding			ovary(2)	2						CCTCCTGTGTTTTTTAAGCCA	0.279													G	167039914	T	G	167039914	3	3	240	1	0	0	0	0	1	0	0	0	17513	1841	64	5	1468	5	ZBBX	3	167039914	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	16183	167039914	30982516	67	121215											
DVL3	1857	broad.mit.edu	37	chr3	183882634	183882634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggcggcgagaaccagggGgttatgatagctcatccacc	13	11	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:183882634G>A	uc003fms.2	+	5	654	c.514G>A	c.(514-516)GGT>AGT	p.G172S	DVL3_uc011bqw.1_Missense_Mutation_p.G172S|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'UTR	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	172					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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGAACCAGGGGGTTATGATAG	0.567													A	183882634	G	A	183882634	3	1	240	1	0	0	0	0	1	0	0	0	4837	1232	43	4	532	4	DVL3	3	183882634	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	16842720	183882634	14139796	68	121216											
C3orf21	152002	broad.mit.edu	37	chr3	194790800	194790800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggcgggcccccaacccGggtctgggggttctcatggc	19	13	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:194790800G>A	uc003fum.3	-	4	934	c.826C>T	c.(826-828)CGG>TGG	p.R276W	C3orf21_uc003ful.2_Missense_Mutation_p.R73W|C3orf21_uc003fuk.2_Missense_Mutation_p.R70W	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	276						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		CCCCCAACCCGGGTCTGGGGG	0.672													A	194790800	G	A	194790800	3	1	240	1	0	0	0	0	1	0	0	0	2214	1115	39	1	359	1	C3orf21	3	194790800	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	10908166	194790800	3231630	69	121217											
JAKMIP1	152789	broad.mit.edu	37	chr4	6064098	6064098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagcagggcgtaggCgcgttgcagggcctggtact	17	11	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:6064098C>T	uc003giu.3	-	10	1777	c.1501G>A	c.(1501-1503)GCC>ACC	p.A501T	JAKMIP1_uc010idb.1_Missense_Mutation_p.A501T|JAKMIP1_uc010idc.1_Missense_Mutation_p.A316T|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.A336T|JAKMIP1_uc003giv.3_Missense_Mutation_p.A501T|JAKMIP1_uc010ide.2_Missense_Mutation_p.A501T	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	501	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AGGGCGTAGGCGCGTTGCAGG	0.647													T	6064098	C	T	6064098	3	4	240	1	0	0	0	0	1	0	0	0	7940	768	27	1	1117	1	JAKMIP1	4	6064098	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08		6064098	185090178	70	121218											
KLB	152831	broad.mit.edu	37	chr4	39448186	39448186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccactggcaacctgtccGcggtgaaccgacaggccctg	11	16	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:39448186G>A	uc003gua.2	+	4	1937	c.1840G>A	c.(1840-1842)GCG>ACG	p.A614T	KLB_uc011byj.1_Missense_Mutation_p.A605T	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	614	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						CAACCTGTCCGCGGTGAACCG	0.552													A	39448186	G	A	39448186	3	1	240	1	0	0	0	0	1	0	0	0	8332	1087	38	1	1854	1	KLB	4	39448186	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	33384088	39448186	151706090	71	121219											
EXOC1	55763	broad.mit.edu	37	chr4	56736993	56736993	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaaaagaacaaatggatcaGatctctgaaagcaaccacct	7	9	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:56736993G>A	uc003hbe.1	+	6	911	c.753G>A	c.(751-753)CAG>CAA	p.Q251Q	EXOC1_uc003hbf.1_Silent_p.Q251Q|EXOC1_uc003hbg.1_Silent_p.Q251Q	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	251	Potential.				exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					AAATGGATCAGATCTCTGAAA	0.353													A	56736993	G	A	56736993	2	1	240	1	0	0	0	0	0	0	0	1	5301	933	33	4		4	EXOC1	4	56736993	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	17288807	56736993	134417283	72	121220											
HELQ	113510	broad.mit.edu	37	chr4	84350749	84350749	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagacttataaatagTgtctttttgtaggagtcctt	7	6	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:84350749T>A	uc003hom.2	-	12	2625	c.2446A>T	c.(2446-2448)ACT>TCT	p.T816S	HELQ_uc010ikb.2_Missense_Mutation_p.T749S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	816							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						TTATAAATAGTGTCTTTTTGT	0.328								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	84350749	T	A	84350749	3	1	240	1	0	0	0	0	1	0	0	0	7047	1696	59	5	887	5	HELQ	4	84350749	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	27613756	84350749	106803527	73	121221											
SEC24D	9871	broad.mit.edu	37	chr4	119652578	119652578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgtagaccattagccaGtaagaatattccttcttctg	7	9	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:119652578G>A	uc003ici.3	-	21	3033	c.2761C>T	c.(2761-2763)CTG>TTG	p.L921L	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.L922L|SEC24D_uc003ick.2_Silent_p.L83L	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	921					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				0						CCATTAGCCAGTAAGAATATT	0.463													A	119652578	G	A	119652578	2	1	240	1	0	0	0	0	0	0	0	1	13997	1020	36	4		4	SEC24D	4	119652578	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	35301829	119652578	71501698	74	121222											
FAT1	2195	broad.mit.edu	37	chr4	187628514	187628514	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaatagctctcctgtAaaaactcgggtggattatca	7	10	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:187628514A>T	uc003izf.2	-	2	2656	c.2468T>A	c.(2467-2469)TTA>TAA	p.L823*	FAT1_uc010iso.1_Nonsense_Mutation_p.L823*	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	823	Extracellular (Potential).|Cadherin 7.				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GCTCTCCTGTAAAAACTCGGG	0.483										HNSCC(5;0.00058)			T	187628514	A	T	187628514	4	4	240	1	0	0	0	0	0	1	0	0	5689	372	13	5	11402	5	FAT1	4	187628514	Nonsense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	67975936	187628514	3525762	75	121223											
PLEKHG4B	153478	broad.mit.edu	37	chr5	161981	161981	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggatttcagaaggggcctGagcgccgtggtcagccaggc	16	11	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:161981G>A	uc003jak.2	+	10	1553	c.1503G>A	c.(1501-1503)CTG>CTA	p.L501L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGGGGCCTGAGCGCCGTGG	0.607													A	161981	G	A	161981	2	1	240	1	0	0	0	0	0	0	0	1	12072	1277	45	4		4	PLEKHG4B	5	161981	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08		161981	180753279	76	121224											
IRX1	79192	broad.mit.edu	37	chr5	3599588	3599588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctcacgcaggtctccAcctggttcgccaacgcgcgc	10	18	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:3599588A>G	uc003jde.2	+	2	578	c.526A>G	c.(526-528)ACC>GCC	p.T176A		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	176	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GCAGGTCTCCACCTGGTTCGC	0.617													G	3599588	A	G	3599588	3	3	240	1	0	0	0	0	1	0	0	0	7843	159	6	3	532	3	IRX1	5	3599588	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	3437607	3599588	177315672	77	121225											
FBXL7	23194	broad.mit.edu	37	chr5	15936756	15936756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgctgcgtccgcctgaccGacgaaggcctgcgctacctg	13	17	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:15936756G>A	uc003jfn.1	+	4	1418	c.937G>A	c.(937-939)GAC>AAC	p.D313N		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	313	LRR 6.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CCGCCTGACCGACGAAGGCCT	0.667													A	15936756	G	A	15936756	3	1	240	1	0	0	0	0	1	0	0	0	5724	1058	37	1	951	1	FBXL7	5	15936756	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	12337168	15936756	164978504	78	121226											
PDZD2	23037	broad.mit.edu	37	chr5	32090272	32090272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggacgggagggtcaccccCcacacagcctgggtcgctct	13	15	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:32090272C>A	uc003jhl.2	+	20	7106	c.6718C>A	c.(6718-6720)CCA>ACA	p.P2240T	PDZD2_uc003jhm.2_Missense_Mutation_p.P2240T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2240					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGGTCACCCCCCACACAGCCT	0.622													A	32090272	C	A	32090272	3	1	240	1	0	0	0	0	1	0	0	0	11701	623	22	5	6792	5	PDZD2	5	32090272	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	16153516	32090272	148824988	79	121227											
EGFLAM	133584	broad.mit.edu	37	chr5	38427162	38427162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgagatcttacgctgCaactccctggccactggagc	10	14	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:38427162C>A	uc003jlc.1	+	14	2186	c.1862C>A	c.(1861-1863)GCA>GAA	p.A621E	EGFLAM_uc003jlb.1_Missense_Mutation_p.A621E|EGFLAM_uc003jle.1_Missense_Mutation_p.A387E|EGFLAM_uc003jlf.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	621	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TCTTACGCTGCAACTCCCTGG	0.443													A	38427162	C	A	38427162	3	1	240	1	0	0	0	0	1	0	0	0	4966	710	25	5	1930	5	EGFLAM	5	38427162	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	6336890	38427162	142488098	80	121228											
PAIP1	10605	broad.mit.edu	37	chr5	43536983	43536983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attagaaaacagggcattcaGcaattctcgaagaccaacct	7	10	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:43536983G>A	uc003job.2	-	6	1157	c.910C>T	c.(910-912)CTG>TTG	p.L304L	PAIP1_uc003joa.2_Silent_p.L225L|PAIP1_uc010ivp.2_Silent_p.L225L|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Silent_p.L192L	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	304	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					AGGGCATTCAGCAATTCTCGA	0.328													A	43536983	G	A	43536983	2	1	240	1	0	0	0	0	0	0	0	1	11396	962	34	2		2	PAIP1	5	43536983	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	5109821	43536983	137378277	81	121229											
CMYA5	202333	broad.mit.edu	37	chr5	79057703	79057703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagatctggaacctgaccGatgctatcaagtgtgggtga	13	7	2	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:79057703G>A	uc003kgc.2	+	8	11402	c.11330G>A	c.(11329-11331)CGA>CAA	p.R3777Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3777	Fibronectin type-III 1.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		GAACCTGACCGATGCTATCAA	0.443													A	79057703	G	A	79057703	3	1	240	1	0	0	0	0	1	0	0	0	3590	1058	37	1	11360	1	CMYA5	5	79057703	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	35520720	79057703	101857557	82	121230											
RASA1	5921	broad.mit.edu	37	chr5	86659260	86659260	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacgagctaccaaaccaAaaggattaatagatctcagt	6	8	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:86659260A>T	uc003kiw.2	+	11	1667	c.1549A>T	c.(1549-1551)AAA>TAA	p.K517*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.K340*|RASA1_uc011ctv.1_Nonsense_Mutation_p.K350*|RASA1_uc011ctw.1_Nonsense_Mutation_p.K351*|RASA1_uc010jaw.2_Nonsense_Mutation_p.K339*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	517	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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		TACCAAACCAAAAGGATTAAT	0.353													T	86659260	A	T	86659260	4	4	240	1	0	0	0	0	0	1	0	0	13060	15	1	5	1603	5	RASA1	5	86659260	Nonsense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	7601557	86659260	94256000	83	121231											
SLC27A6	28965	broad.mit.edu	37	chr5	128302292	128302292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccgcgcctgtgggcccagAgccctagtggtgggcgcagg	17	13	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:128302292A>G	uc003kuy.2	+	2	858	c.462A>G	c.(460-462)AGA>AGG	p.R154R	SLC27A6_uc003kuz.2_Silent_p.R154R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	154					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				0		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)		GTGGGCCCAGAGCCCTAGTGG	0.547													G	128302292	A	G	128302292	2	3	240	1	0	0	0	0	0	0	0	1	14530	301	11	3		3	SLC27A6	5	128302292	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	41643032	128302292	52612968	84	121232											
PCDHA3	56145	broad.mit.edu	37	chr5	140182706	140182706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccctggacgaggtggacGccccgcgccatcgcctactg	14	16	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140182706G>A	uc003lhf.2	+	1	1924	c.1924G>A	c.(1924-1926)GCC>ACC	p.A642T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A642T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	642	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTGGACGCCCCGCGCCA	0.677													A	140182706	G	A	140182706	3	1	240	1	0	0	0	0	1	0	0	0	11525	1087	38	1	1926	1	PCDHA3	5	140182706	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	11880414	140182706	40732554	85	121233											
PCDHB12	56124	broad.mit.edu	37	chr5	140588663	140588663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagtgagctgtcttcgCggggggctcgggtggtttct	19	7	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140588663C>T	uc003liz.2	+	1	373	c.184C>T	c.(184-186)CGG>TGG	p.R62W	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCG	0.507													T	140588663	C	T	140588663	3	4	240	1	0	0	0	0	1	0	0	0	11537	759	27	1	186	1	PCDHB12	5	140588663	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	405957	140588663	40326597	86	121234											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755048	140755048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtccttgaaaacaacccCaggggtgcctccatcttctc	7	14	2	1	rs140643836	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140755048C>T	uc003ljy.1	+	1	1398	c.1398C>T	c.(1396-1398)CCC>CCT	p.P466P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.P466P	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	466	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAACCCCAGGGGTGCCT	0.547													T	140755048	C	T	140755048	2	4	240	1	0	0	0	0	0	0	0	1	11558	581	21	4		4	PCDHGA6	5	140755048	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	166385	140755048	40160212	87	121235											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773250	140773250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaatgaaaaacaaactccGttattccagcttaatgaaaa	4	7	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140773250G>A	uc003lkd.1	+	1	1768	c.870G>A	c.(868-870)CCG>CCA	p.P290P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.P290P	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	290	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAACTCCGTTATTCCAGC	0.393													A	140773250	G	A	140773250	2	1	240	1	0	0	0	0	0	0	0	1	11560	1132	40	1		1	PCDHGA8	5	140773250	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	18202	140773250	40142010	88	121236											
FAT2	2196	broad.mit.edu	37	chr5	150905452	150905453	+	Frame_Shift_Ins	INS	-	-	G													tggtgattcgaaacgagtagINSggggggccattctctggaga							TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:150905451_150905452A>AG	uc003lue.4	-	16	10396_10397	c.10383_10384T>CT	c.(10381-10386)ccctacfs	p.P3461fs	FAT2_uc003lud.4_Frame_Shift_Ins_p.P154fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3461	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P3461T(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)			CGAAACGAGTAGGGGGGGCCAT	0.584													G	150905453	-	G	150905452	7	5	240	1	0	1	1	0	0	0	0	0	5690	987	35	0	2694	0	FAT2	5	150905452	Frame_Shift_Ins	INS	-	TCGA-FP-7829-01A-11D-2053-08	10132202	150905452	30009808	89	121237											
GABRA1	2554	broad.mit.edu	37	chr5	161324205	161324205	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctaatttggccaggggcgAcccgggcttagccaccattg	12	14	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:161324205A>C	uc010jiw.2	+	11	1616	c.1148A>C	c.(1147-1149)GAC>GCC	p.D383A	GABRA1_uc010jix.2_Missense_Mutation_p.D383A|GABRA1_uc010jiy.2_Missense_Mutation_p.D383A|GABRA1_uc003lyx.3_Missense_Mutation_p.D383A|GABRA1_uc010jiz.2_Missense_Mutation_p.D383A|GABRA1_uc010jja.2_Missense_Mutation_p.D383A|GABRA1_uc010jjb.2_Missense_Mutation_p.D383A	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	383	Cytoplasmic (Probable).				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			ovary(2)|pancreas(1)	3	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)	GCCAGGGGCGACCCGGGCTTA	0.453													C	161324205	A	C	161324205	3	2	240	1	0	0	0	0	1	0	0	0	6160	275	10	5	1182	5	GABRA1	5	161324205	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	10418753	161324205	19591055	90	121238											
NSD1	64324	broad.mit.edu	37	chr5	176638327	176638327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggcactcagaactccgCcaatcctagccctagtgggg	11	13	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:176638327C>A	uc003mfr.3	+	5	3065	c.2927C>A	c.(2926-2928)GCC>GAC	p.A976D	NSD1_uc003mft.3_Missense_Mutation_p.A707D|NSD1_uc003mfs.1_Missense_Mutation_p.A873D|NSD1_uc011dfx.1_Missense_Mutation_p.A624D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	976					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			ovary(2)|kidney(1)	3	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)		CAGAACTCCGCCAATCCTAGC	0.507			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			A	176638327	C	A	176638327	3	1	240	1	0	0	0	0	1	0	0	0	10669	739	26	5	2941	5	NSD1	5	176638327	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	15314122	176638327	4276933	91	121239											
RIPK1	8737	broad.mit.edu	37	chr6	3078166	3078166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgcacgtgctgaaagcCgaggtagagagggcccctcc	14	12	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:3078166C>T	uc010jni.2	+	3	550	c.318C>T	c.(316-318)GCC>GCT	p.A106A	RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Silent_p.A41A|RIPK1_uc011dhs.1_Silent_p.A106A|RIPK1_uc003mux.2_Silent_p.A106A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	106	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			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGCTGAAAGCCGAGGTAGAGA	0.602													T	3078166	C	T	3078166	2	4	240	1	0	0	0	0	0	0	0	1	13380	639	23	1		1	RIPK1	6	3078166	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08		3078166	168036901	92	121240											
SLC17A1	6568	broad.mit.edu	37	chr6	25819768	25819768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatagaagtaagtcggcctCgttccaggggaggagcccat	13	10	1	1	rs146175657	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:25819768C>T	uc003nfh.3	-	5	616	c.500G>A	c.(499-501)CGA>CAA	p.R167Q	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.R165Q|SLC17A1_uc010jqc.1_Missense_Mutation_p.R165Q	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	167					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						AAGTCGGCCTCGTTCCAGGGG	0.393													T	25819768	C	T	25819768	3	4	240	1	0	0	0	0	1	0	0	0	14416	884	31	1	935	1	SLC17A1	6	25819768	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	22741602	25819768	145295299	93	121241											
ZNF76	7629	broad.mit.edu	37	chr6	35262953	35262953	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaccttagaggaggccatCaatgtggccactgcggccat	12	12	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:35262953C>A	uc003oki.1	+	14	1846	c.1641C>A	c.(1639-1641)ATC>ATA	p.I547I	ZNF76_uc003okj.1_Silent_p.I492I|DEF6_uc003okk.2_5'Flank|DEF6_uc010jvs.2_5'Flank|DEF6_uc010jvt.2_5'Flank	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	547					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				0						AGGAGGCCATCAATGTGGCCA	0.587													A	35262953	C	A	35262953	2	1	240	1	0	0	0	0	0	0	0	1	18132	816	29	5		5	ZNF76	6	35262953	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	9443185	35262953	135852114	94	121242											
XPO5	57510	broad.mit.edu	37	chr6	43543539	43543539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggtggagttggggtcCatcatgaccgtcaccgcttt	14	11	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:43543539C>T	uc003ovp.2	-	1	274	c.63G>A	c.(61-63)ATG>ATA	p.M21I	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.3_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	21	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	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)			AGTTGGGGTCCATCATGACCG	0.662													T	43543539	C	T	43543539	3	4	240	1	0	0	0	0	1	0	0	0	17444	594	21	4	3679	4	XPO5	6	43543539	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	8280586	43543539	127571528	95	121243											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:45390466A>G	uc011dvx.1	+	3	405	c.195A>G	c.(193-195)CAA>CAG	p.Q65Q	RUNX2_uc011dvy.1_Silent_p.Q65Q|RUNX2_uc003oxt.2_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	65	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			ovary(2)|skin(1)	3						agcagcagcaacagcagcagc	0.274													G	45390466	A	G	45390466	2	3	240	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	1846927	45390466	125724601	96	121244											
LGSN	51557	broad.mit.edu	37	chr6	63990178	63990178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgaagtccatctaagccGgcagcaacagttgcagccag	10	12	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:63990178G>A	uc003peh.2	-	4	1312	c.1278C>T	c.(1276-1278)GCC>GCT	p.A426A	LGSN_uc003pei.2_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	426					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	CATCTAAGCCGGCAGCAACAG	0.453													A	63990178	G	A	63990178	2	1	240	1	0	0	0	0	0	0	0	1	8759	1103	39	1		1	LGSN	6	63990178	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	18599712	63990178	107124889	97	121245											
EYS	346007	broad.mit.edu	37	chr6	66063353	66063353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attacataaatttgttacctGcaaatcccaattgccacaca	3	11	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:66063353G>T	uc011dxu.1	-	9	1995	c.1457C>A	c.(1456-1458)GCA>GAA	p.A486E	EYS_uc003peq.2_Missense_Mutation_p.A486E|EYS_uc003per.1_Missense_Mutation_p.A486E	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	486					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						TTTGTTACCTGCAAATCCCAA	0.338													T	66063353	G	T	66063353	3	4	240	1	0	0	0	0	1	0	0	0	5332	1319	46	5	8079	5	EYS	6	66063353	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2073175	66063353	105051714	98	121246											
SLC17A5	26503	broad.mit.edu	37	chr6	74346391	74346391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcatatagtagcaaattattCcagaaagaggaagagaaatt	8	4	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:74346391C>A	uc003phn.3	-	5	781	c.653G>T	c.(652-654)GGA>GTA	p.G218V	SLC17A5_uc010kax.2_5'Flank|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.G87V	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	218	Helical; (Potential).				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						GCAAATTATTCCAGAAAGAGG	0.294													A	74346391	C	A	74346391	3	1	240	1	0	0	0	0	1	0	0	0	14420	855	30	5	862	5	SLC17A5	6	74346391	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	8283038	74346391	96768676	99	121247											
QRSL1	55278	broad.mit.edu	37	chr6	107111010	107111010	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcatcaaagaggacaacaGaacccgaagtgcccaggatg	11	10	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:107111010G>T	uc003prm.2	+	10	1432	c.1316G>T	c.(1315-1317)AGA>ATA	p.R439I		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	439					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	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)		GAGGACAACAGAACCCGAAGT	0.423													T	107111010	G	T	107111010	3	4	240	1	0	0	0	0	1	0	0	0	12881	942	33	5	1354	5	QRSL1	6	107111010	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	32764619	107111010	64004057	100	121248											
TCF21	6943	broad.mit.edu	37	chr6	134210769	134210769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccaggaggggaagcaGgtccagcgcaacgccgccaa	15	13	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:134210769G>T	uc003qei.3	+	1	510	c.234G>T	c.(232-234)CAG>CAT	p.Q78H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Q78H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	78					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				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGGGGAAGCAGGTCCAGCGCA	0.701													T	134210769	G	T	134210769	3	4	240	1	0	0	0	0	1	0	0	0	15688	991	35	5	236	5	TCF21	6	134210769	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	27099759	134210769	36904298	101	121249											
SLC2A12	154091	broad.mit.edu	37	chr6	134350098	134350099	+	Frame_Shift_Ins	INS	-	-	A													ggttggccagtgatttgtacINSaaaaaatactagtgttagtc					rs148451864	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:134350098_134350099insA	uc003qem.1	-	2	1035_1036	c.864_865insT	c.(862-867)TTTGTAfs	p.F288fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	288_289	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTGATTTGTACAAAAAATACTA	0.411													A	134350099	-	A	134350098	7	5	240	1	0	1	1	0	0	0	0	0	14541	478	17	0	1004	0	SLC2A12	6	134350098	Frame_Shift_Ins	INS	-	TCGA-FP-7829-01A-11D-2053-08	139329	134350098	36764969	102	121250	621	2									
SLC2A12	154091	broad.mit.edu	37	chr6	134350099	134350100	+	Frame_Shift_Ins	INS	-	-	A													gttggccagtgatttgtacaINSaaaaatactagtgttagtcc					rs148451864	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:134350098_134350099C>CA	uc003qem.1	-	1	1035_1036	c.864_865G>TG	c.(862-867)tttgtafs	p.F288fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	288						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)		GTGATTTGTACAAAAAATACTA	0.411													A	134350100	-	A	134350099	7	5	240	1	0	1	1	0	0	0	0	0	14541	127	5	0	1005	0	SLC2A12	6	134350099	Frame_Shift_Ins	INS	-	TCGA-FP-7829-01A-11D-2053-08	1	134350099	36764968	103	121251	621	2									
GRM1	2911	broad.mit.edu	37	chr6	146351157	146351157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctccagctctgtagcCattcaagtgcagaacctgct	9	15	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:146351157C>T	uc010khw.1	+	2	974	c.504C>T	c.(502-504)GCC>GCT	p.A168A	GRM1_uc010khu.1_Silent_p.A168A|GRM1_uc010khv.1_Silent_p.A168A|GRM1_uc003qll.2_Silent_p.A168A|GRM1_uc011edz.1_Silent_p.A168A|GRM1_uc011eea.1_Silent_p.A168A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	168	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A168V(1)		lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCTCTGTAGCCATTCAAGTGC	0.557													T	146351157	C	T	146351157	2	4	240	1	0	0	0	0	0	0	0	1	6796	581	21	4		4	GRM1	6	146351157	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	12001058	146351157	24763910	104	121252											
LATS1	9113	broad.mit.edu	37	chr6	150005125	150005125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggctgccgattcacaGtgccagcagggacaacattt	13	10	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:150005125G>A	uc003qmu.1	-	4	1648	c.1100C>T	c.(1099-1101)ACT>ATT	p.T367I	LATS1_uc010kif.1_Missense_Mutation_p.T262I|LATS1_uc003qmv.1_Missense_Mutation_p.T367I|LATS1_uc003qmw.2_Missense_Mutation_p.T367I|LATS1_uc010kig.1_Missense_Mutation_p.T262I	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	367					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCGATTCACAGTGCCAGCAGG	0.468													A	150005125	G	A	150005125	3	1	240	1	0	0	0	0	1	0	0	0	8646	1029	36	4	2312	4	LATS1	6	150005125	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3653968	150005125	21109942	105	121253											
PAPOLB	56903	broad.mit.edu	37	chr7	4900521	4900521	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataagatggtacctatcactGggatttactcttgggtccca	9	9	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:4900521G>T	uc003snk.2	-	1	1105	c.921C>A	c.(919-921)CCC>CCA	p.P307P	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	306					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACCTATCACTGGGATTTACTC	0.448													T	4900521	G	T	4900521	2	4	240	1	0	0	0	0	0	0	0	1	11430	1335	47	5		5	PAPOLB	7	4900521	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08		4900521	154238142	106	121254											
DNAH11	8701	broad.mit.edu	37	chr7	21598515	21598515	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacatagaagtcatgaaaaaGaagatgtatatttttagggg	10	3	1	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:21598515G>A	uc003svc.2	+	3	622	c.591G>A	c.(589-591)AAG>AAA	p.K197K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	197	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TCATGAAAAAGAAGATGTATA	0.358									Kartagener_syndrome				A	21598515	G	A	21598515	2	1	240	1	0	0	0	0	0	0	0	1	4599	933	33	4		4	DNAH11	7	21598515	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	16697994	21598515	137540148	107	121255											
PKD1L1	168507	broad.mit.edu	37	chr7	47869075	47869075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttgaagagaaggggAggcgagtccaggaacgttct	16	7	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:47869075A>G	uc003tny.1	-	44	6683	c.6683T>C	c.(6682-6684)CTC>CCC	p.L2228P	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2228	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGAGAAGGGGAGGCGAGTCCA	0.428													G	47869075	A	G	47869075	3	3	240	1	0	0	0	0	1	0	0	0	11964	304	11	3	1922	3	PKD1L1	7	47869075	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	26270560	47869075	111269588	108	121256											
EGFR	1956	broad.mit.edu	37	chr7	55223604	55223604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaggaagacggcgtccGcaagtgtaagaagtgcgaag	17	6	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:55223604G>A	uc003tqk.2	+	8	1217	c.971G>A	c.(970-972)CGC>CAC	p.R324H	EGFR_uc003tqh.2_Missense_Mutation_p.R324H|EGFR_uc003tqi.2_Missense_Mutation_p.R324H|EGFR_uc003tqj.2_Missense_Mutation_p.R324H|EGFR_uc010kzg.1_Missense_Mutation_p.R279H|EGFR_uc011kco.1_Missense_Mutation_p.R271H|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	324	Extracellular (Potential).				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.R324L(2)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	GACGGCGTCCGCAAGTGTAAG	0.602		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55223604	G	A	55223604	3	1	240	1	0	0	0	0	1	0	0	0	4967	1087	38	1	1001	1	EGFR	7	55223604	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	7354529	55223604	103915059	109	121257											
RABGEF1	27342	broad.mit.edu	37	chr7	66103848	66103848	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatccttatagaccacTtggagcggattgtggagatc	11	8	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:66103848T>A	uc003tvf.2	+	3	491	c.-703T>A	c.(-705--701)ACTTG>ACATG		KCTD7_uc003tvd.3_Missense_Mutation_p.L167M|KCTD7_uc003tve.2_Missense_Mutation_p.L167M	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TATAGACCACTTGGAGCGGAT	0.562													A	66103848	T	A	66103848	1	1	240	1	0	0	0	0	0	0	0	0	12966	1606	56	5		5	RABGEF1	7	66103848	Translation_Start_Site	SNP	T	TCGA-FP-7829-01A-11D-2053-08	10880244	66103848	93034815	110	121258											
WBSCR17	64409	broad.mit.edu	37	chr7	71036345	71036345	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attggtcttctggatcctggCatggatgtatacggaggaga	14	6	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:71036345C>A	uc003tvy.2	+	6	1038	c.1038C>A	c.(1036-1038)GGC>GGA	p.G346G	WBSCR17_uc003tvz.2_Silent_p.G45G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	346	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGATCCTGGCATGGATGTAT	0.502													A	71036345	C	A	71036345	2	1	240	1	0	0	0	0	0	0	0	1	17261	697	25	5		5	WBSCR17	7	71036345	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4932497	71036345	88102318	111	121259											
STEAP2	261729	broad.mit.edu	37	chr7	89861667	89861667	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtctacacttggatatgTcgctctgctcataagtactt	7	10	3	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:89861667T>G	uc003ujz.2	+	5	1595	c.1202T>G	c.(1201-1203)GTC>GGC	p.V401G	STEAP2_uc010len.2_Missense_Mutation_p.V401G|STEAP2_uc003uka.2_Missense_Mutation_p.V401G|STEAP2_uc003ukb.2_Missense_Mutation_p.V401G|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Missense_Mutation_p.V401G	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	401	Ferric oxidoreductase.|Helical; (Potential).				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			ovary(2)	2	all_hematologic(106;0.112)					CTTGGATATGTCGCTCTGCTC	0.353													G	89861667	T	G	89861667	3	3	240	1	0	0	0	0	1	0	0	0	15277	1667	58	5	1216	5	STEAP2	7	89861667	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	18825322	89861667	69276996	112	121260											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757923	99757923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagagagcccagtccaggttGttccaggctcgggcccgtgc	14	13	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:99757923G>T	uc003utt.2	-	3	2106	c.1089C>A	c.(1087-1089)AAC>AAA	p.N363K	C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.N363K|GAL3ST4_uc010lgq.2_Missense_Mutation_p.N301K	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	363	Lumenal (Potential).				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			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCCAGGTTGTTCCAGGCTC	0.622													T	99757923	G	T	99757923	3	4	240	1	0	0	0	0	1	0	0	0	6200	1368	48	5	375	5	GAL3ST4	7	99757923	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	9896256	99757923	59380740	113	121261											
FEZF1	389549	broad.mit.edu	37	chr7	121944205	121944205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccagactggccttcCgcggctcggagcccgtcact	13	17	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:121944205C>T	uc003vkd.2	-	1	361	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	FEZF1_uc003vkc.2_Missense_Mutation_p.R96Q|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						ACTGGCCTTCCGCGGCTCGGA	0.567													T	121944205	C	T	121944205	3	4	240	1	0	0	0	0	1	0	0	0	5825	652	23	1	1156	1	FEZF1	7	121944205	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	22186282	121944205	37194458	114	121262											
GRM8	2918	broad.mit.edu	37	chr7	126882944	126882944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcataggtgtccctagagcaCgtgtcgaggatgcggacacc	14	11	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:126882944C>T	uc003vlr.2	-	1	626	c.315G>A	c.(313-315)ACG>ACA	p.T105T	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T105T|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	105	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTAGAGCACGTGTCGAGGA	0.483										HNSCC(24;0.065)			T	126882944	C	T	126882944	2	4	240	1	0	0	0	0	0	0	0	1	6803	523	19	1		1	GRM8	7	126882944	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4938739	126882944	32255719	115	121263											
MRPS33	51650	broad.mit.edu	37	chr7	140706300	140706300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccacgaagcttctttagtCgtttttgctcatccataaaa	5	10	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:140706300C>T	uc003vwd.3	-	3	407	c.251G>A	c.(250-252)CGA>CAA	p.R84Q	MRPS33_uc003vwe.3_Missense_Mutation_p.R84Q	NM_016071	NP_057155	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	84					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Melanoma(164;0.00956)					CTTCTTTAGTCGTTTTTGCTC	0.373													T	140706300	C	T	140706300	3	4	240	1	0	0	0	0	1	0	0	0	9842	884	31	1	73	1	MRPS33	7	140706300	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	13823356	140706300	18432363	116	121264											
NOS3	4846	broad.mit.edu	37	chr7	150703991	150703991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggagttataagatccGcttcaacagcatctcctgct	8	12	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:150703991G>A	uc003wif.2	+	16	2131	c.1835G>A	c.(1834-1836)CGC>CAC	p.R612H	NOS3_uc011kuy.1_Missense_Mutation_p.R406H	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	612	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	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)	TATAAGATCCGCTTCAACAGC	0.607													A	150703991	G	A	150703991	3	1	240	1	0	0	0	0	1	0	0	0	10544	1087	38	1	2175	1	NOS3	7	150703991	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	9997691	150703991	8434672	117	121265											
RBM33	155435	broad.mit.edu	37	chr7	155530820	155530820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccccctccaccaccacCgcctcctacccttcttaaca	2	22	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:155530820C>T	uc010lqk.1	+	11	1828	c.1460C>T	c.(1459-1461)CCG>CTG	p.P487L	RBM33_uc011kvv.1_Missense_Mutation_p.P296L	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	487	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	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)		CCACCACCACCGCCTCCTACC	0.493													T	155530820	C	T	155530820	3	4	240	1	0	0	0	0	1	0	0	0	13130	652	23	1	1502	1	RBM33	7	155530820	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4826829	155530820	3607843	118	121266											
MYOM2	9172	broad.mit.edu	37	chr8	2054185	2054185	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcgaaaccgtgggggAtcagtaagtcaggcctggaa	13	7	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:2054185A>T	uc003wpx.3	+	22	3026	c.2888A>T	c.(2887-2889)GAT>GTT	p.D963V	MYOM2_uc011kwi.1_Missense_Mutation_p.D388V	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	963	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		ACCGTGGGGGATCAGTAAGTC	0.443													T	2054185	A	T	2054185	3	4	240	1	0	0	0	0	1	0	0	0	10092	333	12	5	2970	5	MYOM2	8	2054185	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08		2054185	144309837	119	121267											
RP1L1	94137	broad.mit.edu	37	chr8	10469956	10469956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggacagccctggggcCgcccaccccattcgctggat	12	17	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:10469956C>T	uc003wtc.2	-	4	1881	c.1652G>A	c.(1651-1653)CGG>CAG	p.R551Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	551					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCCCTGGGGCCGCCCACCCCA	0.677													T	10469956	C	T	10469956	3	4	240	1	0	0	0	0	1	0	0	0	13533	652	23	1	5554	1	RP1L1	8	10469956	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	8415771	10469956	135894066	120	121268											
C8orf79	57604	broad.mit.edu	37	chr8	12878856	12878856	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctatgaacctgctatggcaaGaacctgttttgcaaatattt	7	8	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:12878856G>T	uc010lsq.2	+	5	1160	c.668G>T	c.(667-669)AGA>ATA	p.R223I	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.R136I|C8orf79_uc010lsr.2_Missense_Mutation_p.R97I	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	223							methyltransferase activity				0						GCTATGGCAAGAACCTGTTTT	0.428													T	12878856	G	T	12878856	3	4	240	1	0	0	0	0	1	0	0	0	2438	942	33	5	678	5	C8orf79	8	12878856	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2408900	12878856	133485166	121	121269											
LGI3	203190	broad.mit.edu	37	chr8	22005847	22005847	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctcatcccactggtagatCtgggtgaaggagaaatcact	10	11	3	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:22005847C>A	uc003xav.2	-	8	1762	c.1473G>T	c.(1471-1473)CAG>CAT	p.Q491H	LGI3_uc010ltu.2_Missense_Mutation_p.Q467H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	491	EAR 6.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACTGGTAGATCTGGGTGAAGG	0.652													A	22005847	C	A	22005847	3	1	240	1	0	0	0	0	1	0	0	0	8753	912	32	5	177	5	LGI3	8	22005847	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	9126991	22005847	124358175	122	121270											
SORBS3	10174	broad.mit.edu	37	chr8	22414348	22414348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaaggacagcaagcgtcGggacaagcgctgggtcaagt	15	10	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:22414348G>A	uc003xbv.2	+	4	681	c.341G>A	c.(340-342)CGG>CAG	p.R114Q	SORBS3_uc011kzk.1_RNA	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	114					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		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)		AGCAAGCGTCGGGACAAGCGC	0.662													A	22414348	G	A	22414348	3	1	240	1	0	0	0	0	1	0	0	0	14929	1116	39	1	351	1	SORBS3	8	22414348	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	408501	22414348	123949674	123	121271											
SCARA3	51435	broad.mit.edu	37	chr8	27516465	27516465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgactggcagaactacacaCggctcttcagcggcctgcgc	11	16	2	1	rs147727919		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:27516465C>T	uc003xga.1	+	5	919	c.778C>T	c.(778-780)CGG>TGG	p.R260W	SCARA3_uc003xgb.1_Missense_Mutation_p.R260W	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	260	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GAACTACACACGGCTCTTCAG	0.622													T	27516465	C	T	27516465	3	4	240	1	0	0	0	0	1	0	0	0	13879	527	19	1	796	1	SCARA3	8	27516465	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	5102117	27516465	118847557	124	121272											
SNAI2	6591	broad.mit.edu	37	chr8	49832925	49832925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacagtgatggggctgtatGctcctgagctgaggatctct	13	9	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:49832925G>T	uc003xqp.2	-	2	319	c.155C>A	c.(154-156)GCA>GAA	p.A52E		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	52					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGGGCTGTATGCTCCTGAGCT	0.527													T	49832925	G	T	49832925	3	4	240	1	0	0	0	0	1	0	0	0	14827	1319	46	5	659	5	SNAI2	8	49832925	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	22316460	49832925	96531097	125	121273											
MYBL1	4603	broad.mit.edu	37	chr8	67492545	67492545	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggctatttagagtattAgacatgttatcatccatgag	8	6	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:67492545A>C	uc003xwj.2	-	9	1331	c.924T>G	c.(922-924)TCT>TCG	p.S308S	MYBL1_uc003xwl.2_Silent_p.S308S|MYBL1_uc003xwk.2_Silent_p.S307S	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	308	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTAGAGTATTAGACATGTTAT	0.388													C	67492545	A	C	67492545	2	2	240	1	0	0	0	0	0	0	0	1	10009	407	15	5		5	MYBL1	8	67492545	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	17659620	67492545	78871477	126	121274											
SULF1	23213	broad.mit.edu	37	chr8	70540421	70540421	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcagctattacaataaagaGaaaggtgtaaaaaagcaaga	9	4	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:70540421G>A	uc010lza.1	+	18	2775	c.2058G>A	c.(2056-2058)GAG>GAA	p.E686E	SULF1_uc003xyd.2_Silent_p.E686E|SULF1_uc003xye.2_Silent_p.E686E|SULF1_uc003xyf.2_Silent_p.E686E|SULF1_uc003xyg.2_Silent_p.E686E|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	686					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACAATAAAGAGAAAGGTGTAA	0.353													A	70540421	G	A	70540421	2	1	240	1	0	0	0	0	0	0	0	1	15369	933	33	4		4	SULF1	8	70540421	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3047876	70540421	75823601	127	121275											
ZFPM2	23414	broad.mit.edu	37	chr8	106813641	106813641	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggacaagtgtgagaaaaAgactcagctctttctcacga	10	9	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:106813641A>C	uc003ymd.2	+	8	1354	c.1331A>C	c.(1330-1332)AAG>ACG	p.K444T	ZFPM2_uc011lhs.1_Missense_Mutation_p.K175T|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	444					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGTGAGAAAAAGACTCAGCTC	0.458													C	106813641	A	C	106813641	3	2	240	1	0	0	0	0	1	0	0	0	17655	72	3	5	1361	5	ZFPM2	8	106813641	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	36273220	106813641	39550381	128	121276											
ANGPT1	284	broad.mit.edu	37	chr8	108359227	108359227	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtctgagagaggaggctGgttcctatctccagcatggt	14	9	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:108359227G>T	uc003ymn.2	-	2	864	c.396C>A	c.(394-396)ACC>ACA	p.T132T	ANGPT1_uc003ymo.2_Silent_p.T132T	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	132					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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGAGGAGGCTGGTTCCTATCT	0.502													T	108359227	G	T	108359227	2	4	240	1	0	0	0	0	0	0	0	1	610	1335	47	5		5	ANGPT1	8	108359227	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1545586	108359227	38004795	129	121277											
TRPS1	7227	broad.mit.edu	37	chr8	116427108	116427108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttacttaggctggggagtgGaatttctctctggtgacttt	12	6	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:116427108G>A	uc003ynz.2	-	6	3448	c.2989C>T	c.(2989-2991)CCA>TCA	p.P997S	TRPS1_uc011lhy.1_Missense_Mutation_p.P1001S|TRPS1_uc003yny.2_Missense_Mutation_p.P1010S|TRPS1_uc010mcy.2_Missense_Mutation_p.P997S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	997	Mediates interaction with RNF4 (By similarity).				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			CTGGGGAGTGGAATTTCTCTC	0.483									Langer-Giedion_syndrome				A	116427108	G	A	116427108	3	1	240	1	0	0	0	0	1	0	0	0	16590	1174	41	4	860	4	TRPS1	8	116427108	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	8067881	116427108	29936914	130	121278											
MTSS1	9788	broad.mit.edu	37	chr8	125565369	125565369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcactctctggaatcTggcctggggagacagtggca	15	10	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:125565369T>C	uc003yrk.2	-	14	2666	c.2132A>G	c.(2131-2133)CAG>CGG	p.Q711R	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.Q360R|MTSS1_uc011lin.1_Missense_Mutation_p.Q485R|MTSS1_uc011lio.1_Missense_Mutation_p.Q601R|MTSS1_uc003yri.2_Missense_Mutation_p.Q429R|MTSS1_uc003yrj.2_Missense_Mutation_p.Q686R|MTSS1_uc003yrl.2_Missense_Mutation_p.Q715R	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	711	Pro-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			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTGGAATCTGGCCTGGGGA	0.567													C	125565369	T	C	125565369	3	2	240	1	0	0	0	0	1	0	0	0	9962	1580	55	3	139	3	MTSS1	8	125565369	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	9138261	125565369	20798653	131	121279											
TRAPPC9	83696	broad.mit.edu	37	chr8	141294065	141294065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccactggtttttattccCggcaggttatccagcaaaca	9	11	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:141294065C>T	uc003yvj.2	-	14	2171	c.2037G>A	c.(2035-2037)CCG>CCA	p.P679P	TRAPPC9_uc003yvh.2_Silent_p.P777P|TRAPPC9_uc010mel.1_Silent_p.P100P|TRAPPC9_uc003yvi.1_Silent_p.P670P	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	679					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						TTTTTATTCCCGGCAGGTTAT	0.522													T	141294065	C	T	141294065	2	4	240	1	0	0	0	0	0	0	0	1	16462	639	23	1		1	TRAPPC9	8	141294065	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	15728696	141294065	5069957	132	121280											
GPAA1	8733	broad.mit.edu	37	chr8	145139196	145139196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatctcttccagaccttctGccagaaagggggcctgttgt	10	12	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:145139196G>T	uc003zax.2	+	6	886	c.776G>T	c.(775-777)TGC>TTC	p.C259F	GPAA1_uc003zav.1_Missense_Mutation_p.C137F|GPAA1_uc003zaw.1_Missense_Mutation_p.C199F	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	259	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	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)			CAGACCTTCTGCCAGAAAGGG	0.627													T	145139196	G	T	145139196	3	4	240	1	0	0	0	0	1	0	0	0	6587	1319	46	5	798	5	GPAA1	8	145139196	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3845131	145139196	1224826	133	121281											
ELAVL2	1993	broad.mit.edu	37	chr9	23692860	23692860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccaaactggtcattcCgtcaatggtcattggagaaa	9	10	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:23692860C>T	uc003zpu.2	-	7	1050	c.775G>A	c.(775-777)GGA>AGA	p.G259R	ELAVL2_uc003zps.2_Missense_Mutation_p.G246R|ELAVL2_uc003zpt.2_Missense_Mutation_p.G246R|ELAVL2_uc003zpv.2_Missense_Mutation_p.G259R|ELAVL2_uc003zpw.2_Missense_Mutation_p.G246R	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	259					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGGTCATTCCGTCAATGGTC	0.423													T	23692860	C	T	23692860	3	4	240	1	0	0	0	0	1	0	0	0	5050	661	23	1	308	1	ELAVL2	9	23692860	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08		23692860	117520571	134	121282											
LINGO2	158038	broad.mit.edu	37	chr9	27949498	27949498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggaaatccttgaaagacCtctcacggatggtgtctggg	12	8	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:27949498C>T	uc003zqu.1	-	2	1366	c.1172G>A	c.(1171-1173)AGG>AAG	p.R391K	LINGO2_uc010mjf.1_Missense_Mutation_p.R391K|LINGO2_uc003zqv.1_Missense_Mutation_p.R391K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	391	LRRCT.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		CTTGAAAGACCTCTCACGGAT	0.502													T	27949498	C	T	27949498	3	4	240	1	0	0	0	0	1	0	0	0	8815	681	24	4	652	4	LINGO2	9	27949498	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4256638	27949498	113263933	135	121283											
ZNF658	26149	broad.mit.edu	37	chr9	40773269	40773269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctcagggctgaattgTaggtgaaagatctcccacat	11	9	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:40773269T>C	uc004abs.2	-	5	2158	c.2006A>G	c.(2005-2007)TAC>TGC	p.Y669C	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y669C	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	669	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGCTGAATTGTAGGTGAAAGA	0.418													C	40773269	T	C	40773269	3	2	240	1	0	0	0	0	1	0	0	0	18066	1638	57	3	1177	3	ZNF658	9	40773269	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	12823771	40773269	100440162	136	121284											
DAPK1	1612	broad.mit.edu	37	chr9	90266561	90266561	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacggcaatactcccctccaTgtggcatgtaaagatggcaa	9	12	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:90266561T>A	uc004apc.2	+	17	1884	c.1746T>A	c.(1744-1746)CAT>CAA	p.H582Q	DAPK1_uc004apd.2_Missense_Mutation_p.H582Q|DAPK1_uc011ltg.1_Missense_Mutation_p.H582Q|DAPK1_uc011lth.1_Missense_Mutation_p.H319Q|DAPK1_uc004apf.1_Missense_Mutation_p.H136Q	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	582	ANK 7.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						CTCCCCTCCATGTGGCATGTA	0.498									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90266561	T	A	90266561	3	1	240	1	0	0	0	0	1	0	0	0	4235	1461	51	5	1808	5	DAPK1	9	90266561	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	49493292	90266561	50946870	137	121285											
FBP2	8789	broad.mit.edu	37	chr9	97333768	97333768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcatgaagaggtccacGccttgccctgtggagagagc	13	11	1	3	rs144416702		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:97333768G>A	uc004auv.2	-	4	610	c.543C>T	c.(541-543)GGC>GGT	p.G181G	uc004auu.2_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	181					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				AGAGGTCCACGCCTTGCCCTG	0.562													A	97333768	G	A	97333768	2	1	240	1	0	0	0	0	0	0	0	1	5706	1074	38	1		1	FBP2	9	97333768	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	7067207	97333768	43879663	138	121286											
OR1L3	26735	broad.mit.edu	37	chr9	125437502	125437502	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccactctttgccctctttCttatcatatacctggtcact	5	14	5	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:125437502C>A	uc011lzb.1	+	1	94	c.94C>A	c.(94-96)CTT>ATT	p.L32I		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGCCCTCTTTCTTATCATATA	0.443													A	125437502	C	A	125437502	3	1	240	1	0	0	0	0	1	0	0	0	10964	913	32	5	96	5	OR1L3	9	125437502	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	28103734	125437502	15775929	139	121287											
CIZ1	25792	broad.mit.edu	37	chr9	130940034	130940034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcagggagcccccggcGccccatacctgcatggggag	13	16	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:130940034G>A	uc004btt.2	-	10	1792	c.1629C>T	c.(1627-1629)GGC>GGT	p.G543G	CIZ1_uc004btr.2_Silent_p.G515G|CIZ1_uc004bts.2_Silent_p.G514G|CIZ1_uc011maq.1_Silent_p.G482G|CIZ1_uc004btu.2_Silent_p.G463G|CIZ1_uc011mar.1_Silent_p.G442G|CIZ1_uc011mas.1_Silent_p.G573G|CIZ1_uc004btw.2_Silent_p.G487G|CIZ1_uc004btv.2_Silent_p.G543G	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	543						nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						AGCCCCCGGCGCCCCATACCT	0.577													A	130940034	G	A	130940034	2	1	240	1	0	0	0	0	0	0	0	1	3441	1074	38	1		1	CIZ1	9	130940034	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	5502532	130940034	10273397	140	121288											
NEBL	10529	broad.mit.edu	37	chr10	21104554	21104554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaagaaaaccacttgcCgagctaatattttcttgatt	6	7	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:21104554C>T	uc001iqi.2	-	22	2638	c.2241G>A	c.(2239-2241)TCG>TCA	p.S747S	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	747	Nebulin 21.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AACCACTTGCCGAGCTAATAT	0.348													T	21104554	C	T	21104554	2	4	240	1	0	0	0	0	0	0	0	1	10303	666	23	1		1	NEBL	10	21104554	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08		21104554	114430193	141	121289											
ABI1	10006	broad.mit.edu	37	chr10	27057879	27057879	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatagtcattaggaactgtTgggggtttaacaggttccag	12	5	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:27057879T>C	uc001isx.2	-	6	788	c.621A>G	c.(619-621)CCA>CCG	p.P207P	ABI1_uc001ite.2_Silent_p.P202P|ABI1_uc010qdh.1_Silent_p.P202P|ABI1_uc010qdi.1_Silent_p.P143P|ABI1_uc001isy.2_Silent_p.P207P|ABI1_uc001ita.2_Silent_p.P207P|ABI1_uc001isz.2_Silent_p.P202P|ABI1_uc001itb.2_Silent_p.P224P|ABI1_uc001itc.2_Silent_p.P207P|ABI1_uc010qdj.1_Silent_p.P207P|ABI1_uc001itd.2_Silent_p.P207P|ABI1_uc010qdk.1_Silent_p.P207P|ABI1_uc010qdg.1_Silent_p.P73P	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	207					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						TAGGAACTGTTGGGGGTTTAA	0.403													C	27057879	T	C	27057879	2	2	240	1	0	0	0	0	0	0	0	1	88	1799	63	3		3	ABI1	10	27057879	Silent	SNP	T	TCGA-FP-7829-01A-11D-2053-08	5953325	27057879	108476868	142	121290											
ANKRD30A	91074	broad.mit.edu	37	chr10	37506754	37506754	+	Frame_Shift_Del	DEL	C	C	-													gaaacaacaacttgaacaggCtctcagaatacaagatatag							TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:37506754delC	uc001iza.1	+	33	3146	c.3047delC	c.(3046-3048)GCTfs	p.A1016fs		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1072	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CTTGAACAGGCTCTCAGAATA	0.294													-	37506754	C	-	37506754	7	5	240	1	0	1	0	1	0	0	0	0	658	797	28	0	3177	0	ANKRD30A	10	37506754	Frame_Shift_Del	DEL	C	TCGA-FP-7829-01A-11D-2053-08	10448875	37506754	98027993	143	121291											
TMEM72	643236	broad.mit.edu	37	chr10	45427458	45427458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcaggtttacaggagcCgctgtctccatatgtgaagg	12	10	1	1	rs80056477	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:45427458C>T	uc001jbn.2	+	3	347	c.150C>T	c.(148-150)GCC>GCT	p.A50A	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_5'UTR	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	50	Helical; (Potential).					integral to membrane					0						TTACAGGAGCCGCTGTCTCCA	0.572													T	45427458	C	T	45427458	2	4	240	1	0	0	0	0	0	0	0	1	16198	639	23	1		1	TMEM72	10	45427458	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	7920704	45427458	90107289	144	121292											
CHAT	1103	broad.mit.edu	37	chr10	50854647	50854647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcagcgacacccacaGggcactccagctccttcacg	10	17	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:50854647G>T	uc001jhz.2	+	8	1361	c.1208G>T	c.(1207-1209)AGG>ATG	p.R403M	CHAT_uc001jhv.1_Missense_Mutation_p.R285M|CHAT_uc001jhx.1_Missense_Mutation_p.R285M|CHAT_uc001jhy.1_Missense_Mutation_p.R285M|CHAT_uc001jia.2_Missense_Mutation_p.R285M|CHAT_uc010qgs.1_Missense_Mutation_p.R285M	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	403					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GACACCCACAGGGCACTCCAG	0.632													T	50854647	G	T	50854647	3	4	240	1	0	0	0	0	1	0	0	0	3313	1000	35	5	1282	5	CHAT	10	50854647	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	5427189	50854647	84680100	145	121293											
ZNF365	22891	broad.mit.edu	37	chr10	64415217	64415217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcctgcagagaggaaaAcccaagtttggcgttggcag	12	10	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:64415217A>C	uc001jmd.1	+	4	551	c.217A>C	c.(217-219)ACC>CCC	p.T73P	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	73										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGAGAGGAAAACCCAAGTTTG	0.502													C	64415217	A	C	64415217	3	2	240	1	0	0	0	0	1	0	0	0	17866	43	2	5	1705	5	ZNF365	10	64415217	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	13560570	64415217	71119530	146	121294											
LRRTM3	347731	broad.mit.edu	37	chr10	68687350	68687350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctcaacctggccctttttCcaaggttggtcagccttcag	9	13	3	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:68687350C>A	uc001jmz.1	+	2	1226	c.676C>A	c.(676-678)CCA>ACA	p.P226T	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.P226T	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	226	Extracellular (Potential).|LRR 7.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GGCCCTTTTTCCAAGGTTGGT	0.463													A	68687350	C	A	68687350	3	1	240	1	0	0	0	0	1	0	0	0	9041	855	30	5	682	5	LRRTM3	10	68687350	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4272133	68687350	66847397	147	121295											
CPN1	1369	broad.mit.edu	37	chr10	101825124	101825124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccgcccgggtctcgggttCcacctgggaggaggcgagag	17	13	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:101825124C>T	uc001kql.2	-	4	840	c.580G>A	c.(580-582)GAA>AAA	p.E194K		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	194	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCTCGGGTTCCACCTGGGAG	0.582													T	101825124	C	T	101825124	3	4	240	1	0	0	0	0	1	0	0	0	3809	864	30	4	820	4	CPN1	10	101825124	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	33137774	101825124	33709623	148	121296											
FAM178A	55719	broad.mit.edu	37	chr10	102684668	102684668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttcaatcagactcctgCagctacaggaaagcctcctg	8	13	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:102684668C>T	uc001krt.3	+	5	2452	c.1910C>T	c.(1909-1911)GCA>GTA	p.A637V	FAM178A_uc001krr.1_Missense_Mutation_p.A637V|FAM178A_uc001krs.2_Missense_Mutation_p.A637V|FAM178A_uc001kru.1_Missense_Mutation_p.A572V	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	637											0						CAGACTCCTGCAGCTACAGGA	0.413													T	102684668	C	T	102684668	3	4	240	1	0	0	0	0	1	0	0	0	5503	710	25	2	1928	2	FAM178A	10	102684668	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	859544	102684668	32850079	149	121297											
SORCS1	114815	broad.mit.edu	37	chr10	108389086	108389086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatggagctgagattgaCgtaagacaccgcgataccat	10	10	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:108389086C>T	uc001kym.2	-	19	2544	c.2536G>A	c.(2536-2538)GTC>ATC	p.V846I	SORCS1_uc001kyl.2_Missense_Mutation_p.V846I|SORCS1_uc009xxs.2_Missense_Mutation_p.V846I|SORCS1_uc001kyn.1_Missense_Mutation_p.V846I|SORCS1_uc001kyo.2_Missense_Mutation_p.V846I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	846	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGAGATTGACGTAAGACACC	0.488													T	108389086	C	T	108389086	3	4	240	1	0	0	0	0	1	0	0	0	14930	536	19	1	1236	1	SORCS1	10	108389086	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	5704418	108389086	27145661	150	121298											
HSPA12A	259217	broad.mit.edu	37	chr10	118434850	118434850	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcctgcaccgcctgctgCagcaggggcgcctcggcaaa	14	16	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:118434850C>A	uc001lct.2	-	12	1575	c.1470G>T	c.(1468-1470)CTG>CTT	p.L490L	HSPA12A_uc001lcu.2_Silent_p.L407L	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	490							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CCGCCTGCTGCAGCAGGGGCG	0.642													A	118434850	C	A	118434850	2	1	240	1	0	0	0	0	0	0	0	1	7404	697	25	5		5	HSPA12A	10	118434850	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	10045764	118434850	17099897	151	121299											
TACC2	10579	broad.mit.edu	37	chr10	123844926	123844926	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagcagatgtcttaaaaGacttttctcttgcagggaac	9	9	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:123844926G>T	uc001lfv.2	+	4	3271	c.2911G>T	c.(2911-2913)GAC>TAC	p.D971Y	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.D971Y|TACC2_uc010qtv.1_Missense_Mutation_p.D971Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	971						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGTCTTAAAAGACTTTTCTCT	0.547													T	123844926	G	T	123844926	3	4	240	1	0	0	0	0	1	0	0	0	15499	942	33	5	2921	5	TACC2	10	123844926	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	5410076	123844926	11689821	152	121300											
DMBT1	1755	broad.mit.edu	37	chr10	124339248	124339248	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggcagctgggctgtggCtgggccatgtcagccccagg	17	12	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:124339248C>A	uc001lgk.1	+	10	940	c.834C>A	c.(832-834)GGC>GGA	p.G278G	DMBT1_uc001lgl.1_Silent_p.G278G|DMBT1_uc001lgm.1_Silent_p.G278G|DMBT1_uc009xzz.1_Silent_p.G278G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.G130G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	278	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCTGTGGCTGGGCCATGT	0.602													A	124339248	C	A	124339248	2	1	240	1	0	0	0	0	0	0	0	1	4577	784	28	5		5	DMBT1	10	124339248	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	494322	124339248	11195499	153	121301											
EBF3	253738	broad.mit.edu	37	chr10	131671794	131671794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgtttggaattgttgtGcacaaacatgttgtctgaca	10	8	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:131671794G>A	uc001lki.1	-	8	762	c.703C>T	c.(703-705)CAC>TAC	p.H235Y		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	235					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		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)		GAATTGTTGTGCACAAACATG	0.507													A	131671794	G	A	131671794	3	1	240	1	0	0	0	0	1	0	0	0	4882	1319	46	2	988	2	EBF3	10	131671794	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	7332546	131671794	3862953	154	121302											
C10orf93	255352	broad.mit.edu	37	chr10	134755211	134755211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgcagtcctcgctcaCctctggctgcctcatctgca	9	15	4	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:134755211C>T	uc001llt.1	-	3	266	c.190G>A	c.(190-192)GTG>ATG	p.V64M	C10orf93_uc001llu.2_Missense_Mutation_p.V64M	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	64							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		TCCTCGCTCACCTCTGGCTGC	0.612													T	134755211	C	T	134755211	3	4	240	1	0	0	0	0	1	0	0	0	1625	507	18	4	1055	4	C10orf93	10	134755211	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	3083417	134755211	779536	155	121303											
EPS8L2	64787	broad.mit.edu	37	chr11	709560	709560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccctgcagtggcagcCtgggccggtccgacggtgtg	15	16	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:709560C>T	uc001lqt.2	+	3	299	c.52C>T	c.(52-54)CTG>TTG	p.L18L	EPS8L2_uc010qwj.1_Silent_p.L18L|EPS8L2_uc001lqu.2_Silent_p.L18L|EPS8L2_uc010qwk.1_Silent_p.L18L|EPS8L2_uc001lqv.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	18						cytoplasm				pancreas(1)	1		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;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGTGGCAGCCTGGGCCGGTC	0.642													T	709560	C	T	709560	2	4	240	1	0	0	0	0	0	0	0	1	5196	680	24	4		4	EPS8L2	11	709560	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08		709560	134296956	156	121304											
MUC5B	727897	broad.mit.edu	37	chr11	1272662	1272662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggatcctcacagagcCgagcactatagccaccgtga	9	15	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:1272662C>T	uc009ycr.1	+	52	15644	c.15518C>T	c.(15517-15519)CCG>CTG	p.P5173L	MUC5B_uc001ltb.2_Missense_Mutation_p.P4854L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4851	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CTCACAGAGCCGAGCACTATA	0.627													T	1272662	C	T	1272662	3	4	240	1	0	0	0	0	1	0	0	0	9979	652	23	1	14683	1	MUC5B	11	1272662	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	563102	1272662	133733854	157	121305											
OR52H1	390067	broad.mit.edu	37	chr11	5566174	5566174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatcagcacaggcgagctGggcaacacctatatgctcac	10	12	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:5566174G>T	uc010qzh.1	-	1	580	c.580C>A	c.(580-582)CAG>AAG	p.Q194K	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGCGAGCTGGGCAACACCT	0.488													T	5566174	G	T	5566174	3	4	240	1	0	0	0	0	1	0	0	0	11119	1357	47	5	385	5	OR52H1	11	5566174	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	4293512	5566174	129440342	158	121306											
OR56A1	120796	broad.mit.edu	37	chr11	6048513	6048513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaattgattagtgatgatgGatgggtaccgcagtgggtgg	16	4	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:6048513G>A	uc010qzw.1	-	1	422	c.422C>T	c.(421-423)TCC>TTC	p.S141F		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		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)		AGTGATGATGGATGGGTACCG	0.498													A	6048513	G	A	6048513	3	1	240	1	0	0	0	0	1	0	0	0	11133	1174	41	4	538	4	OR56A1	11	6048513	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	482339	6048513	128958003	159	121307											
LMO1	4004	broad.mit.edu	37	chr11	8284922	8284922	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcatctcgggcgctccGtgtccagccgcagctaggct	11	16	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:8284922G>A	uc001mgg.1	-	1	485	c.-12C>T	c.(-14--10)CACGG>CATGG		LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Intron	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1						cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		CGGGCGCTCCGTGTCCAGCCG	0.736			T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma							A	8284922	G	A	8284922	1	1	240	1	0	0	0	0	0	0	0	0	8851	1160	40	1		1	LMO1	11	8284922	Translation_Start_Site	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2236409	8284922	126721594	160	121308											
OR4C13	283092	broad.mit.edu	37	chr11	49974600	49974600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcatatgcctgttaaactGtctcttgctcctggtctcct	7	12	3	0	rs138466175	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:49974600G>T	uc010rhz.1	+	1	626	c.626G>T	c.(625-627)TGT>TTT	p.C209F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CTGTTAAACTGTCTCTTGCTC	0.488													T	49974600	G	T	49974600	3	4	240	1	0	0	0	0	1	0	0	0	11047	1377	48	5	628	5	OR4C13	11	49974600	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	41689678	49974600	85031916	161	121309											
DDB1	1642	broad.mit.edu	37	chr11	61081144	61081144	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatacggtgggctgggtGcccaaagtcaccttcttacg	11	12	3	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:61081144G>T	uc001nrc.3	-	16	2122	c.1896C>A	c.(1894-1896)GGC>GGA	p.G632G	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.G632G	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	632	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			ovary(2)|lung(1)|central_nervous_system(1)	4						TGGGCTGGGTGCCCAAAGTCA	0.478								NER					T	61081144	G	T	61081144	2	4	240	1	0	0	0	0	0	0	0	1	4323	1306	46	5		5	DDB1	11	61081144	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	11106544	61081144	73925372	162	121310											
BEST1	7439	broad.mit.edu	37	chr11	61729788	61729788	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgaggaggatgctcacgctGgcatcattggccgcttccta	12	12	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:61729788G>C	uc001nss.2	+	10	1742	c.1162G>C	c.(1162-1164)GGC>CGC	p.G388R	BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_Missense_Mutation_p.W259S|BEST1_uc010rls.1_Missense_Mutation_p.G16R|BEST1_uc001nsr.2_Missense_Mutation_p.G328R|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.G328R|BEST1_uc001nst.2_Missense_Mutation_p.G301R|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Missense_Mutation_p.G282R	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	388	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1						TGCTCACGCTGGCATCATTGG	0.562													C	61729788	G	C	61729788	3	2	240	1	0	0	0	0	1	0	0	0	1404	1348	47	5	1196	5	BEST1	11	61729788	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	648644	61729788	73276728	163	121311											
AHNAK	79026	broad.mit.edu	37	chr11	62290003	62290003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccttgggtcctgagacGtcaaggtcagccttgggcag	13	12	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:62290003G>A	uc001ntl.2	-	5	12186	c.11886C>T	c.(11884-11886)GAC>GAT	p.D3962D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3962					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GTCCTGAGACGTCAAGGTCAG	0.483													A	62290003	G	A	62290003	2	1	240	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62290003	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	560215	62290003	72716513	164	121312											
PCNXL3	399909	broad.mit.edu	37	chr11	65402868	65402868	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggatgatgcctccgacgaGtacaagatcatcatgctcaa	9	11	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:65402868G>C	uc001oey.2	+	31	5133	c.5133G>C	c.(5131-5133)GAG>GAC	p.E1711D	PCNXL3_uc001oez.2_Missense_Mutation_p.E598D	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1711						integral to membrane					0						CCTCCGACGAGTACAAGATCA	0.637													C	65402868	G	C	65402868	3	2	240	1	0	0	0	0	1	0	0	0	11593	1020	36	5	5255	5	PCNXL3	11	65402868	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3112865	65402868	69603648	165	121313											
FAM181B	220382	broad.mit.edu	37	chr11	82444664	82444664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcatcgtcctcgaaacaGcagcccttgtccagggctcc	9	16	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:82444664G>A	uc001ozp.2	-	1	243	c.108C>T	c.(106-108)TGC>TGT	p.C36C		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	hypothetical protein LOC220382	36										large_intestine(1)	1						CCTCGAAACAGCAGCCCTTGT	0.706													A	82444664	G	A	82444664	2	1	240	1	0	0	0	0	0	0	0	1	5509	963	34	2		2	FAM181B	11	82444664	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	17041796	82444664	52561852	166	121314											
CNTN5	53942	broad.mit.edu	37	chr11	100221534	100221534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggagtctatattattgaAgttcgagcatatagtgaagg	12	4	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:100221534A>C	uc001pga.2	+	24	3471	c.3132A>C	c.(3130-3132)GAA>GAC	p.E1044D	CNTN5_uc001pgb.2_Missense_Mutation_p.E970D|CNTN5_uc010ruk.1_Missense_Mutation_p.E315D	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	1044	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		ATATTATTGAAGTTCGAGCAT	0.388													C	100221534	A	C	100221534	3	2	240	1	0	0	0	0	1	0	0	0	3644	69	3	5	3218	5	CNTN5	11	100221534	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	17776870	100221534	34784982	167	121315											
UBE4A	9354	broad.mit.edu	37	chr11	118253350	118253350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactagcagaggtgttggaaGcagtgatgccccacctggat	13	9	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:118253350G>A	uc001psw.2	+	13	2185	c.2056G>A	c.(2056-2058)GCA>ACA	p.A686T	UBE4A_uc001psv.2_Missense_Mutation_p.A693T	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	686					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		GGTGTTGGAAGCAGTGATGCC	0.483													A	118253350	G	A	118253350	3	1	240	1	0	0	0	0	1	0	0	0	16879	971	34	2	2123	2	UBE4A	11	118253350	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	18031816	118253350	16753166	168	121316											
ARCN1	372	broad.mit.edu	37	chr11	118454629	118454629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagcaccaggatttggcGgatttggcagctctgcagta	12	8	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:118454629G>A	uc001ptq.2	+	4	714	c.553G>A	c.(553-555)GGA>AGA	p.G185R	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.G97R|ARCN1_uc009zag.2_Missense_Mutation_p.G226R	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	185					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	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)		AGGATTTGGCGGATTTGGCAG	0.502													A	118454629	G	A	118454629	3	1	240	1	0	0	0	0	1	0	0	0	842	1117	39	1	567	1	ARCN1	11	118454629	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	201279	118454629	16551887	169	121317											
OR8B3	390271	broad.mit.edu	37	chr11	124267190	124267190	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggttgctggaactctggatGatctgttaatccagcaagaa	12	7	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:124267190G>T	uc010saj.1	-	1	58	c.58C>A	c.(58-60)CAT>AAT	p.H20N	OR8B2_uc001qab.3_RNA	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		AACTCTGGATGATCTGTTAAT	0.383													T	124267190	G	T	124267190	3	4	240	1	0	0	0	0	1	0	0	0	11228	1290	45	5	885	5	OR8B3	11	124267190	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	5812561	124267190	10739326	170	121318											
APLP2	334	broad.mit.edu	37	chr11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgtttcaggtcattgacGagactctggatgttaaggaa	12	6	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:130011402G>A	uc010sby.1	+	16	2126	c.1969G>A	c.(1969-1971)GAG>AAG	p.E657K	APLP2_uc001qfp.2_Missense_Mutation_p.E645K|APLP2_uc001qfq.2_Missense_Mutation_p.E589K|APLP2_uc010sbz.1_Missense_Mutation_p.E445K|APLP2_uc001qfr.2_Missense_Mutation_p.E411K|APLP2_uc001qfs.2_Missense_Mutation_p.E416K|APLP2_uc001qfv.2_Missense_Mutation_p.E548K|APLP2_uc009zcv.2_Missense_Mutation_p.E5K	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	657	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		GGTCATTGACGAGACTCTGGA	0.502													A	130011402	G	A	130011402	3	1	240	1	0	0	0	0	1	0	0	0	779	1059	37	1	2031	1	APLP2	11	130011402	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	5744212	130011402	4995114	171	121319											
CLEC4E	26253	broad.mit.edu	37	chr12	8687405	8687405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccctacatcccagaaGctgaaaaagaatgacatagg	9	11	0	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr12:8687405G>A	uc001quo.1	-	6	654	c.489C>T	c.(487-489)AGC>AGT	p.S163S		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	163	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					CATCCCAGAAGCTGAAAAAGA	0.348													A	8687405	G	A	8687405	2	1	240	1	0	0	0	0	0	0	0	1	3515	985	34	2		2	CLEC4E	12	8687405	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08		8687405	125164490	172	121320											
KIF21A	55605	broad.mit.edu	37	chr12	39735371	39735371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaatgtcatcttcctcCtcctcctcctcctcttcttc	1	20	5	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr12:39735371C>T	uc001rly.2	-	14	2003	c.1857G>A	c.(1855-1857)GAG>GAA	p.E619E	KIF21A_uc001rlw.2_5'Flank|KIF21A_uc001rlx.2_Silent_p.E606E|KIF21A_uc001rlz.2_Silent_p.E606E|KIF21A_uc010skl.1_Silent_p.E606E	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	619					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CAtcttcctcctcctcctcct	0.274													T	39735371	C	T	39735371	2	4	240	1	0	0	0	0	0	0	0	1	8288	680	24	4		4	KIF21A	12	39735371	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	31047966	39735371	94116524	173	121321											
EPYC	1833	broad.mit.edu	37	chr12	91371944	91371944	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcagcctgggagtagaTtcctcctcctcttcctcttc	6	15	4	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr12:91371944T>A	uc001tbk.2	-	3	354	c.261A>T	c.(259-261)GAA>GAT	p.E87D		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	87	Poly-Glu.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TGGGAGTAGATTCCTCCTCCT	0.537											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	91371944	T	A	91371944	3	1	240	1	0	0	0	0	1	0	0	0	5201	1490	52	5	727	5	EPYC	12	91371944	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	51636573	91371944	42479951	174	121322											
SLC7A1	6541	broad.mit.edu	37	chr13	30110029	30110029	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaacggtgacatagctgtaGaggtaagctgagcccgtctt	12	10	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:30110029G>A	uc001uso.2	-	3	684	c.297C>T	c.(295-297)CTC>CTT	p.L99L		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	99	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CATAGCTGTAGAGGTAAGCTG	0.592													A	30110029	G	A	30110029	2	1	240	1	0	0	0	0	0	0	0	1	14692	929	33	4		4	SLC7A1	13	30110029	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08		30110029	85059849	175	121323											
DCLK1	9201	broad.mit.edu	37	chr13	36699928	36699928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggtccaggctggaaatcTtcttgagcccatcaatggtg	12	9	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:36699928T>C	uc001uvf.2	-	2	580	c.347A>G	c.(346-348)AAG>AGG	p.K116R		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	116	Doublecortin 1.				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			stomach(6)|ovary(2)|skin(1)	9		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)		GCTGGAAATCTTCTTGAGCCC	0.522													C	36699928	T	C	36699928	3	2	240	1	0	0	0	0	1	0	0	0	4291	1609	56	3	1910	3	DCLK1	13	36699928	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	6589899	36699928	78469950	176	121324											
DCT	1638	broad.mit.edu	37	chr13	95131262	95131262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttcttggccacagctcaCggtcatcctggtttcgtagg	10	11	3	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:95131262C>T	uc001vlv.3	-	1	675	c.248G>A	c.(247-249)CGT>CAT	p.R83H	DCT_uc010afh.2_Missense_Mutation_p.R83H	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	83	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.R83H(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	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)		CCACAGCTCACGGTCATCCTG	0.602													T	95131262	C	T	95131262	3	4	240	1	0	0	0	0	1	0	0	0	4304	536	19	1	1450	1	DCT	13	95131262	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	58431334	95131262	20038616	177	121325											
ERCC5	2073	broad.mit.edu	37	chr13	103492133	103492133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctagtttccatcaggactCggcatggaaaaagatgtcta	10	8	2	1	rs139012037	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:103492133C>T	uc001vpu.1	+	9	1552	c.1430C>T	c.(1429-1431)TCG>TTG	p.S477L	BIVM_uc001vps.2_Missense_Mutation_p.S477L|BIVM_uc010agc.2_Missense_Mutation_p.S255L|BIVM_uc001vpv.2_Missense_Mutation_p.S248L	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATCAGGACTCGGCATGGAAA	0.468			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	103492133	C	T	103492133	3	4	240	1	0	0	0	0	1	0	0	0	5216	893	31	1		1	ERCC5	13	103492133	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	8360871	103492133	11677745	178	121326											
COL4A2	1284	broad.mit.edu	37	chr13	111155584	111155584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgggccggggactccGggccccagggcaggcctggt	19	12	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:111155584G>A	uc001vqx.2	+	42	4283	c.3994G>A	c.(3994-3996)GGG>AGG	p.G1332R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1332	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			CGGGGACTCCGGGCCCCAGGG	0.642													A	111155584	G	A	111155584	3	1	240	1	0	0	0	0	1	0	0	0	3690	1116	39	1	4156	1	COL4A2	13	111155584	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	7663451	111155584	4014294	179	121327											
SOX1	6656	broad.mit.edu	37	chr13	112722276	112722276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagaagcggccgttcatcGacgaggccaagcggctgcgc	15	14	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:112722276G>A	uc001vsb.1	+	1	364	c.304G>A	c.(304-306)GAC>AAC	p.D102N		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	102	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	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)		GCCGTTCATCGACGAGGCCAA	0.627													A	112722276	G	A	112722276	3	1	240	1	0	0	0	0	1	0	0	0	14940	1058	37	1	306	1	SOX1	13	112722276	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1566692	112722276	2447602	180	121328											
RASA3	22821	broad.mit.edu	37	chr13	114781717	114781717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctttcaacttcacagggtCgatttcacagggtttgtggc	11	9	4	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:114781717C>T	uc001vui.2	-	13	1368	c.1237G>A	c.(1237-1239)GAC>AAC	p.D413N	RASA3_uc010tkk.1_Missense_Mutation_p.D381N|RASA3_uc001vuj.2_Missense_Mutation_p.D30N	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	413	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			lung(3)|skin(1)	4	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)			TTCACAGGGTCGATTTCACAG	0.517													T	114781717	C	T	114781717	3	4	240	1	0	0	0	0	1	0	0	0	13062	884	31	1	1315	1	RASA3	13	114781717	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	2059441	114781717	388161	181	121329											
NPAS3	64067	broad.mit.edu	37	chr14	34269090	34269090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtaacccggacagccGcgacagcgacgacagcttcg	11	16	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:34269090G>A	uc001wru.2	+	12	1641	c.1577G>A	c.(1576-1578)CGC>CAC	p.R526H	NPAS3_uc001wrs.2_Missense_Mutation_p.R513H|NPAS3_uc001wrt.2_Missense_Mutation_p.R494H|NPAS3_uc001wrv.2_Missense_Mutation_p.R496H	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		CCGGACAGCCGCGACAGCGAC	0.642													A	34269090	G	A	34269090	3	1	240	1	0	0	0	0	1	0	0	0	10564	1087	38	1	1678	1	NPAS3	14	34269090	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08		34269090	73080450	182	121330											
CFL2	1073	broad.mit.edu	37	chr14	35182762	35182762	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcattcactgtaactccAgaagcctgaaaataaacaca	4	11	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:35182762A>C	uc001wsg.3	-	2	150	c.9T>G	c.(7-9)TCT>TCG	p.S3S	CFL2_uc010tpn.1_5'UTR|CFL2_uc001wsh.3_Silent_p.S3S|CFL2_uc001wsi.3_RNA|CFL2_uc001wsj.3_RNA	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	cofilin 2	3						cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(2)	2	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CTGTAACTCCAGAAGCCTGAA	0.338													C	35182762	A	C	35182762	2	2	240	1	0	0	0	0	0	0	0	1	3291	175	7	5		5	CFL2	14	35182762	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	913672	35182762	72166778	183	121331											
POLE2	5427	broad.mit.edu	37	chr14	50154897	50154897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaggcggagagcgcccGgctccgcagccgctccggcg	16	16	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:50154897G>A	uc001wwu.2	-	1	39	c.25C>T	c.(25-27)CGG>TGG	p.R9W	SDCCAG1_uc010anj.1_Intron|POLE2_uc001wwv.2_RNA	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	9					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	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAGAGCGCCCGGCTCCGCAGC	0.731													A	50154897	G	A	50154897	3	1	240	1	0	0	0	0	1	0	0	0	12197	1115	39	1	1634	1	POLE2	14	50154897	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	14972135	50154897	57194643	184	121332											
PYGL	5836	broad.mit.edu	37	chr14	51401876	51401876	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagcatcttcttcaatttCttctaactcttctatatcca	1	13	7	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:51401876C>A	uc001wyu.2	-	3	500	c.373G>T	c.(373-375)GAA>TAA	p.E125*	PYGL_uc010tqq.1_Nonsense_Mutation_p.E91*|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Nonsense_Mutation_p.E125*	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	125					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			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCTTCAATTTCTTCTAACTCT	0.408													A	51401876	C	A	51401876	4	1	240	1	0	0	0	0	0	1	0	0	12861	922	32	5	2242	5	PYGL	14	51401876	Nonsense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1246979	51401876	55947664	185	121333											
SLC38A6	145389	broad.mit.edu	37	chr14	61512843	61512843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattgctttaagttttctcAtttattttatatctgcactc	3	8	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:61512843A>G	uc001xfg.1	+	12	999	c.883A>G	c.(883-885)ATT>GTT	p.I295V	SLC38A6_uc001xfh.1_Missense_Mutation_p.I295V|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.I272V	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	295	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AAGTTTTCTCATTTATTTTAT	0.303													G	61512843	A	G	61512843	3	3	240	1	0	0	0	0	1	0	0	0	14608	217	8	3	929	3	SLC38A6	14	61512843	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	10110967	61512843	45836697	186	121334											
NRXN3	9369	broad.mit.edu	37	chr14	79433625	79433625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaccgccccctgaatgAcaaccagtggcacaatgtcg	10	14	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:79433625A>G	uc001xun.2	+	10	2224	c.1733A>G	c.(1732-1734)GAC>GGC	p.D578G	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.D703G	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	951	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCCTGAATGACAACCAGTGG	0.438													G	79433625	A	G	79433625	3	3	240	1	0	0	0	0	1	0	0	0	10667	275	10	3	1763	3	NRXN3	14	79433625	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	17920782	79433625	27915915	187	121335											
RIN3	79890	broad.mit.edu	37	chr14	93118805	93118805	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacggatctctcgacaactgGcctcgaccctcccagctccc	7	19	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:93118805G>C	uc001yap.2	+	6	1563	c.1411G>C	c.(1411-1413)GCC>CCC	p.A471P	RIN3_uc010auk.2_Missense_Mutation_p.A133P|RIN3_uc001yaq.2_Missense_Mutation_p.A396P|RIN3_uc001yar.1_Missense_Mutation_p.A133P|RIN3_uc001yas.1_Missense_Mutation_p.A133P	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	471	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TCGACAACTGGCCTCGACCCT	0.632													C	93118805	G	C	93118805	3	2	240	1	0	0	0	0	1	0	0	0	13373	1203	42	5	1433	5	RIN3	14	93118805	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	13685180	93118805	14230735	188	121336											
C15orf2	23742	broad.mit.edu	37	chr15	24921694	24921694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagtgagaaggcccaggCgtctccagcgagctcctgct	13	13	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:24921694C>T	uc001ywo.2	+	1	1154	c.680C>T	c.(679-681)GCG>GTG	p.A227V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	227					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAGGCCCAGGCGTCTCCAGCG	0.602													T	24921694	C	T	24921694	3	4	240	1	0	0	0	0	1	0	0	0	1784	768	27	1	682	1	C15orf2	15	24921694	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08		24921694	77609698	189	121337											
ATP10A	57194	broad.mit.edu	37	chr15	25925073	25925073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcaactgacgtgccagCtgaagttgtgtggggaaaac	14	8	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:25925073C>A	uc010ayu.2	-	21	4021	c.3915G>T	c.(3913-3915)CAG>CAT	p.Q1305H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1305	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		GACGTGCCAGCTGAAGTTGTG	0.507													A	25925073	C	A	25925073	3	1	240	1	0	0	0	0	1	0	0	0	1116	796	28	5	588	5	ATP10A	15	25925073	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1003379	25925073	76606319	190	121338											
TMEM87A	25963	broad.mit.edu	37	chr15	42564289	42564291	+	In_Frame_Del	DEL	GAG	GAG	-													aagatagtggtatttctgaaGaggatctttccaaaactaaa							TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:42564288_42564290AGAG>A	uc021sjr.1	-	1	335_337	c.176_178CTCT>T	c.(175-180)ctcttc>cTtc	p.F60del	GANC_uc001zph.3_5'Flank|GANC_uc001zpi.3_5'Flank|TMEM87A_uc001zpf.4_Intron|TMEM87A_uc010bcu.1_Intron|TMEM87A_uc001zpg.2_In_Frame_Del_p.F60del|GANC_uc010ude.1_5'Flank	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	Homo sapiens transmembrane protein 87A (TMEM87A), transcript variant 1, mRNA.	60						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-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;1.03e-06)		GTATTTCTGAAGAGGATCTTTCC	0.276													-	42564291	GAG	-	42564289	7	5	240	1	0	1	0	1	0	0	0	0	16207	929	33	0	1612	0	TMEM87A	15	42564289	In_Frame_Del	DEL	GAG	TCGA-FP-7829-01A-11D-2053-08	16639216	42564289	59967103	191	121339											
ZFP106	64397	broad.mit.edu	37	chr15	42742247	42742247	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagccaagcttacttagTtcaggcaggagagggcccga	14	9	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:42742247T>G	uc001zpw.2	-	2	2489	c.2154A>C	c.(2152-2154)GAA>GAC	p.E718D	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.E501D|ZFP106_uc001zpy.1_Missense_Mutation_p.E741D	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	718						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCTTACTTAGTTCAGGCAGGA	0.483													G	42742247	T	G	42742247	3	3	240	1	0	0	0	0	1	0	0	0	17634	1722	60	5	3569	5	ZFP106	15	42742247	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	177958	42742247	59789145	192	121340											
PPIP5K1	9677	broad.mit.edu	37	chr15	43826988	43826988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagattgatcgcagaagtctCctgggccagcctgccaacct	10	14	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:43826988C>T	uc001zrw.2	-	31	4369	c.4186G>A	c.(4186-4188)GAG>AAG	p.E1396K	PPIP5K1_uc001zrx.1_Missense_Mutation_p.E1369K|PPIP5K1_uc001zru.2_Missense_Mutation_p.E1371K|PPIP5K1_uc001zry.3_Missense_Mutation_p.E1371K|PPIP5K1_uc001zrv.2_Missense_Mutation_p.E1157K	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1396					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				0						GCAGAAGTCTCCTGGGCCAGC	0.547													T	43826988	C	T	43826988	3	4	240	1	0	0	0	0	1	0	0	0	12332	864	30	4	119	4	PPIP5K1	15	43826988	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1084741	43826988	58704404	193	121341											
DUOX2	50506	broad.mit.edu	37	chr15	45386852	45386852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcccgtgaacagactcCggttcagcactttctggaag	12	12	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:45386852C>T	uc010bea.2	-	33	4636	c.4433G>A	c.(4432-4434)CGG>CAG	p.R1478Q	DUOX2_uc001zun.2_Missense_Mutation_p.R1478Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1478	Cytoplasmic (Potential).				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			ovary(2)|skin(2)|pancreas(1)	5		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)		GAACAGACTCCGGTTCAGCAC	0.637													T	45386852	C	T	45386852	3	4	240	1	0	0	0	0	1	0	0	0	4801	652	23	1	221	1	DUOX2	15	45386852	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1559864	45386852	57144540	194	121342											
UNC13C	440279	broad.mit.edu	37	chr15	54306946	54306946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagggtatccaagggCagactgaaactgaaaacaca	11	8	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:54306946C>A	uc002ack.2	+	1	1846	c.1846C>A	c.(1846-1848)CAG>AAG	p.Q616K		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	616					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATCCAAGGGCAGACTGAAAC	0.502													A	54306946	C	A	54306946	3	1	240	1	0	0	0	0	1	0	0	0	16983	711	25	5	1848	5	UNC13C	15	54306946	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	8920094	54306946	48224446	195	121343											
UNC13C	440279	broad.mit.edu	37	chr15	54307612	54307612	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagatttcggacattatctCaatcaactgcaaatgagtca	8	8	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:54307612C>G	uc002ack.2	+	1	2512	c.2512C>G	c.(2512-2514)CAA>GAA	p.Q838E		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACATTATCTCAATCAACTGC	0.423													G	54307612	C	G	54307612	3	3	240	1	0	0	0	0	1	0	0	0	16983	827	29	5	2514	5	UNC13C	15	54307612	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	666	54307612	48223780	196	121344											
USP3	9960	broad.mit.edu	37	chr15	63866244	63866244	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtgtggtgattttgtttaGaaatggagcatctactgttg	12	4	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:63866244G>A	uc002amf.2	+	10	1038	c.909_splice	c.e10-1	p.I303_splice	USP3_uc010uii.1_Splice_Site|USP3_uc002amg.2_Splice_Site_p.I218_splice|USP3_uc002amh.2_Splice_Site_p.I281_splice|USP3_uc010uij.1_Splice_Site_p.I259_splice|USP3_uc010uik.1_Splice_Site_p.I54_splice|USP3_uc010bgs.2_Splice_Site_p.I286_splice|USP3_uc002ami.2_Splice_Site_p.I134_splice	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3						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			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		ATTTTGTTTAGAAATGGAGCA	0.383													A	63866244	G	A	63866244	5	1	240	1	0	0	0	0	0	0	1	0	17057	956	33	4	946	4	USP3	15	63866244	Splice_Site	SNP	G	TCGA-FP-7829-01A-11D-2053-08	9558632	63866244	38665148	197	121345											
LBXCOR1	390598	broad.mit.edu	37	chr15	68120229	68120229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcacccagcgcagggggcgGcccagacggtgaacagccca	15	16	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:68120229G>T	uc002aqy.1	+	3	1931	c.1931G>T	c.(1930-1932)GGC>GTC	p.G644V		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	688					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GCAGGGGGCGGCCCAGACGGT	0.622													T	68120229	G	T	68120229	3	4	240	1	0	0	0	0	1	0	0	0	8655	1203	42	5	1941	5	LBXCOR1	15	68120229	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	4253985	68120229	34411163	198	121346											
TBC1D21	161514	broad.mit.edu	37	chr15	74174028	74174028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcctggaaattcctcaCgggctacttctcatggcaga	10	11	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:74174028C>T	uc002avz.2	+	3	295	c.212C>T	c.(211-213)ACG>ATG	p.T71M	TBC1D21_uc010ulc.1_Missense_Mutation_p.T35M	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	71	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(2)	2						AAATTCCTCACGGGCTACTTC	0.612													T	74174028	C	T	74174028	3	4	240	1	0	0	0	0	1	0	0	0	15607	536	19	1	222	1	TBC1D21	15	74174028	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	6053799	74174028	28357364	199	121347											
ISLR	3671	broad.mit.edu	37	chr15	74467329	74467329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccgcgacctagaatccGtgccgcctggcttcccggcc	10	19	0	1	rs148769100		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:74467329G>A	uc002axg.1	+	2	412	c.130G>A	c.(130-132)GTG>ATG	p.V44M	ISLR_uc002axh.1_Missense_Mutation_p.V44M	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	44	LRRNT.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CCTAGAATCCGTGCCGCCTGG	0.652													A	74467329	G	A	74467329	3	1	240	1	0	0	0	0	1	0	0	0	7858	1145	40	1	132	1	ISLR	15	74467329	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	293301	74467329	28064063	200	121348											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84582130	84582130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcaacatgcgtgggaGgtatttgaacctttgcttaa	11	8	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:84582130G>A	uc002bjz.3	+	16	2211	c.1987G>A	c.(1987-1989)GGC>AGC	p.G663S	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G663S|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G663S	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	663						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGCGTGGGAGGTATTTGAAC	0.483													A	84582130	G	A	84582130	3	1	240	1	0	0	0	0	1	0	0	0	276	1014	35	4	2045	4	ADAMTSL3	15	84582130	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	10114801	84582130	17949262	201	121349											
ACAN	176	broad.mit.edu	37	chr15	89392905	89392905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaacggtctacctctacCctaaccagacgggcctccca	8	16	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:89392905C>T	uc010upo.1	+	10	2343	c.1969C>T	c.(1969-1971)CCT>TCT	p.P657S	ACAN_uc002bmx.2_Missense_Mutation_p.P657S|ACAN_uc010upp.1_Missense_Mutation_p.P657S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	657					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTACCTCTACCCTAACCAGAC	0.652													T	89392905	C	T	89392905	3	4	240	1	0	0	0	0	1	0	0	0	117	623	22	4	2003	4	ACAN	15	89392905	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4810775	89392905	13138487	202	121350											
CACNA1H	8912	broad.mit.edu	37	chr16	1259359	1259359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagcgacttcttcctgCgcatcgacagccaccgtgag	10	16	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:1259359C>T	uc002cks.2	+	17	3939	c.3691C>T	c.(3691-3693)CGC>TGC	p.R1231C	CACNA1H_uc002ckt.2_Missense_Mutation_p.R1231C|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1231	Cytoplasmic (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTTCTTCCTGCGCATCGACAG	0.711													T	1259359	C	T	1259359	3	4	240	1	0	0	0	0	1	0	0	0	2545	768	27	1	3753	1	CACNA1H	16	1259359	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08		1259359	89095394	203	121351											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983164	2983164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgagttcctgaggacgtGctacgggggcagcttcctgg	15	12	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:2983164G>A	uc002csd.2	+	5	1193	c.830G>A	c.(829-831)TGC>TAC	p.C277Y	FLYWCH1_uc002csb.2_Missense_Mutation_p.C276Y|FLYWCH1_uc002csc.2_Missense_Mutation_p.C276Y|FLYWCH1_uc010bsv.2_5'UTR	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	277	FLYWCH-type 2.					nucleus	DNA binding|metal ion binding				0						CTGAGGACGTGCTACGGGGGC	0.647													A	2983164	G	A	2983164	3	1	240	1	0	0	0	0	1	0	0	0	5947	1319	46	2	837	2	FLYWCH1	16	2983164	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1723805	2983164	87371589	204	121352											
ITGAL	3683	broad.mit.edu	37	chr16	30505559	30505559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgacctggctgccctccCggcaaaagacttcgttgctg	11	15	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:30505559C>T	uc002dyi.3	+	12	1416	c.1240C>T	c.(1240-1242)CGG>TGG	p.R414W	ITGAL_uc002dyj.3_Missense_Mutation_p.R331W|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	414	FG-GAP 4.|Extracellular (Potential).				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			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GCTGCCCTCCCGGCAAAAGAC	0.617													T	30505559	C	T	30505559	3	4	240	1	0	0	0	0	1	0	0	0	7886	643	23	1	1286	1	ITGAL	16	30505559	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	27522395	30505559	59849194	205	121353											
TRIM72	493829	broad.mit.edu	37	chr16	31230619	31230619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccctgcaggagacagtgCgtcagttccggggggccgtg	16	12	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:31230619C>T	uc002ebn.1	+	4	725	c.496C>T	c.(496-498)CGT>TGT	p.R166C	PYDC1_uc002ebo.2_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	166	Potential.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						GGAGACAGTGCGTCAGTTCCG	0.652													T	31230619	C	T	31230619	3	4	240	1	0	0	0	0	1	0	0	0	16542	768	27	1	506	1	TRIM72	16	31230619	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	725060	31230619	59124134	206	121354											
ZFHX3	463	broad.mit.edu	37	chr16	72828910	72828910	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggggtggatgaactggttCtgcgcgctcaggaagtggag	19	6	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:72828910C>A	uc002fck.2	-	9	8344	c.7671G>T	c.(7669-7671)CAG>CAT	p.Q2557H	ZFHX3_uc002fcl.2_Missense_Mutation_p.Q1643H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2557					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGAACTGGTTCTGCGCGCTCA	0.547													A	72828910	C	A	72828910	3	1	240	1	0	0	0	0	1	0	0	0	17631	912	32	5	3448	5	ZFHX3	16	72828910	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	41598291	72828910	17525843	207	121355											
ADAMTS18	170692	broad.mit.edu	37	chr16	77331238	77331238	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctcagttactggcttggTttttgcactgcagaatgagg	14	7	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:77331238T>G	uc002ffc.3	-	18	3168	c.2749A>C	c.(2749-2751)ACC>CCC	p.T917P	ADAMTS18_uc010chc.1_Missense_Mutation_p.T505P|ADAMTS18_uc002ffe.1_Missense_Mutation_p.T613P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	917					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ACTGGCTTGGTTTTTGCACTG	0.408													G	77331238	T	G	77331238	3	3	240	1	0	0	0	0	1	0	0	0	263	1725	60	5	940	5	ADAMTS18	16	77331238	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	4502328	77331238	13023515	208	121356											
VPS53	55275	broad.mit.edu	37	chr17	559155	559155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcaggtggcgtttggcGtgatctaattgcttaatatc	13	6	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:559155G>A	uc002frn.2	-	6	558	c.411C>T	c.(409-411)CAC>CAT	p.H137H	VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Silent_p.H137H|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.H108H|VPS53_uc002fro.2_Translation_Start_Site|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	137	Potential.				protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCGTTTGGCGTGATCTAATT	0.448													A	559155	G	A	559155	2	1	240	1	0	0	0	0	0	0	0	1	17212	1136	40	1		1	VPS53	17	559155	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08		559155	80636055	209	121357											
ZZEF1	23140	broad.mit.edu	37	chr17	3937348	3937348	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctaaagagcaggtggGtggttttccagccatctggc	14	10	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:3937348G>C	uc002fxe.2	-	40	6609	c.6545C>G	c.(6544-6546)ACC>AGC	p.T2182S	ZZEF1_uc002fxh.2_Missense_Mutation_p.T496S|ZZEF1_uc002fxi.2_Missense_Mutation_p.T417S|ZZEF1_uc002fxj.1_Missense_Mutation_p.T795S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2182							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAGCAGGTGGGTGGTTTTCCA	0.547													C	3937348	G	C	3937348	3	2	240	1	0	0	0	0	1	0	0	0	18252	1261	44	5	2404	5	ZZEF1	17	3937348	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	3378193	3937348	77257862	210	121358											
ZZEF1	23140	broad.mit.edu	37	chr17	3954207	3954207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcactggccaggtgggCgctatagagagccagggcag	16	11	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:3954207C>T	uc002fxe.2	-	36	5795	c.5731G>A	c.(5731-5733)GCC>ACC	p.A1911T	ZZEF1_uc002fxh.2_Missense_Mutation_p.A225T|ZZEF1_uc002fxi.2_Missense_Mutation_p.A146T|ZZEF1_uc002fxj.1_Missense_Mutation_p.A524T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1911							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCAGGTGGGCGCTATAGAGA	0.607													T	3954207	C	T	3954207	3	4	240	1	0	0	0	0	1	0	0	0	18252	768	27	1	3234	1	ZZEF1	17	3954207	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	16859	3954207	77241003	211	121359											
RABEP1	9135	broad.mit.edu	37	chr17	5253802	5253802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagttaaaacatacgtggCagaaggccaatgaccagttt	9	9	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:5253802C>A	uc002gbm.3	+	7	1065	c.841C>A	c.(841-843)CAG>AAG	p.Q281K	RABEP1_uc010clc.1_Missense_Mutation_p.Q274K|RABEP1_uc010cld.1_Missense_Mutation_p.Q238K|RABEP1_uc010vsw.1_Missense_Mutation_p.Q238K|RABEP1_uc002gbl.3_Missense_Mutation_p.Q281K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	281	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						ACATACGTGGCAGAAGGCCAA	0.448													A	5253802	C	A	5253802	3	1	240	1	0	0	0	0	1	0	0	0	12961	711	25	5	867	5	RABEP1	17	5253802	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1299595	5253802	75941408	212	121360											
ATP1B2	482	broad.mit.edu	37	chr17	7554931	7554931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcaccagtttatgggccGcaccgggaccagctggggta	15	12	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:7554931G>A	uc002gif.1	+	1	678	c.95G>A	c.(94-96)CGC>CAC	p.R32H		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	32	Cytoplasmic (Potential).				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)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TTTATGGGCCGCACCGGGACC	0.687													A	7554931	G	A	7554931	3	1	240	1	0	0	0	0	1	0	0	0	1133	1087	38	1	97	1	ATP1B2	17	7554931	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2301129	7554931	73640279	213	121361											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	13	15	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:7578403C>A	uc002gim.2	-	5	721	c.527G>T	c.(526-528)TGC>TTC	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578403	C	A	7578403	3	1	240	1	0	0	0	0	1	0	0	0	16378	710	25	5	771	5	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	23472	7578403	73616807	214	121362											
MYH10	4628	broad.mit.edu	37	chr17	8383470	8383470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagctgcccaatcttgGcctccagggctgagatggtg	12	14	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:8383470G>A	uc002gll.2	-	38	5558	c.5462C>T	c.(5461-5463)GCC>GTC	p.A1821V	MYH10_uc002glm.2_Missense_Mutation_p.A1852V|MYH10_uc010cnx.2_Missense_Mutation_p.A1830V	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1821	Potential.				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			ovary(2)	2						CCCAATCTTGGCCTCCAGGGC	0.532													A	8383470	G	A	8383470	3	1	240	1	0	0	0	0	1	0	0	0	10030	1203	42	2	484	2	MYH10	17	8383470	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	805067	8383470	72811740	215	121363											
PIK3R5	23533	broad.mit.edu	37	chr17	8814786	8814786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctggatgcggtcctccGtgcatgtcgtggcccctggc	14	14	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:8814786G>A	uc002glt.2	-	2	93	c.26C>T	c.(25-27)ACG>ATG	p.T9M	PIK3R5_uc010vuz.1_Missense_Mutation_p.T9M|PIK3R5_uc002glu.3_Translation_Start_Site|PIK3R5_uc010coa.1_Missense_Mutation_p.T9M|PIK3R5_uc010cob.1_Intron	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	9					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GCGGTCCTCCGTGCATGTCGT	0.667													A	8814786	G	A	8814786	3	1	240	1	0	0	0	0	1	0	0	0	11922	1145	40	1	2688	1	PIK3R5	17	8814786	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	431316	8814786	72380424	216	121364											
GLP2R	9340	broad.mit.edu	37	chr17	9764495	9764495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccctggggtttcgcccGtgcacacctggagaacacag	12	13	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:9764495G>A	uc002gmd.1	+	8	965	c.965G>A	c.(964-966)CGT>CAT	p.R322H		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	322	Helical; Name=4; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GGTTTCGCCCGTGCACACCTG	0.493													A	9764495	G	A	9764495	3	1	240	1	0	0	0	0	1	0	0	0	6453	1145	40	1	995	1	GLP2R	17	9764495	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	949709	9764495	71430715	217	121365											
MYH13	8735	broad.mit.edu	37	chr17	10265478	10265478	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagagatggagaagatGtggggcggggcctcctggcg	19	7	1	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:10265478G>T	uc002gmk.1	-	5	552	c.462C>A	c.(460-462)CAC>CAA	p.H154Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	154	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGGAGAAGATGTGGGGCGGGG	0.493													T	10265478	G	T	10265478	3	4	240	1	0	0	0	0	1	0	0	0	10032	1368	48	5	5502	5	MYH13	17	10265478	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	500983	10265478	70929732	218	121366											
MYH4	4622	broad.mit.edu	37	chr17	10366655	10366655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actaatatttattaacttacAtgtttcaatatctgcagaag	4	6	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:10366655A>G	uc002gmn.2	-	9	916	c.805T>C	c.(805-807)TAT>CAT	p.Y269H	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	269	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			ovary(10)|skin(2)|central_nervous_system(1)	13						ATTAACTTACATGTTTCAATA	0.303													G	10366655	A	G	10366655	3	3	240	1	0	0	0	0	1	0	0	0	10037	231	8	3	5142	3	MYH4	17	10366655	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	101177	10366655	70828555	219	121367											
MYH2	4620	broad.mit.edu	37	chr17	10426631	10426631	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actactggctgtacctggtaAgtgagttccttcactcgcct	9	12	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:10426631A>C	uc010coi.2	-	38	5699	c.5571T>G	c.(5569-5571)ACT>ACG	p.T1857T	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T1857T|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1857	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GTACCTGGTAAGTGAGTTCCT	0.453													C	10426631	A	C	10426631	2	2	240	1	0	0	0	0	0	0	0	1	10035	59	3	5		5	MYH2	17	10426631	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	59976	10426631	70768579	220	121368											
RNF112	7732	broad.mit.edu	37	chr17	19318132	19318132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagctgctgcaagggaagcGagcccgttgctgcctcttgc	15	12	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:19318132G>A	uc010vyw.1	+	10	1257	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	RNF112_uc010vyv.1_Missense_Mutation_p.R353Q|RNF112_uc010vyx.1_Missense_Mutation_p.R236Q	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	353							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CAAGGGAAGCGAGCCCGTTGC	0.617													A	19318132	G	A	19318132	3	1	240	1	0	0	0	0	1	0	0	0	13426	1058	37	1	806	1	RNF112	17	19318132	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	8891501	19318132	61877078	221	121369											
KIF2B	84643	broad.mit.edu	37	chr17	51901904	51901904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactcacactggtgctcCgggactcctttataggccag	10	13	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:51901904C>T	uc002iua.2	+	1	1666	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	504					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			ovary(5)|skin(3)	8						ACTGGTGCTCCGGGACTCCTT	0.478													T	51901904	C	T	51901904	3	4	240	1	0	0	0	0	1	0	0	0	8298	643	23	1	1512	1	KIF2B	17	51901904	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	32583772	51901904	29293306	222	121370											
INTS2	57508	broad.mit.edu	37	chr17	59949691	59949691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagcatcagtttgtccaaCtaaaccaattgtattattct	6	9	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:59949691C>T	uc002izn.2	-	20	2813	c.2737G>A	c.(2737-2739)GTT>ATT	p.V913I	INTS2_uc002izm.2_Missense_Mutation_p.V905I	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	913					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						GTTTGTCCAACTAAACCAATT	0.383													T	59949691	C	T	59949691	3	4	240	1	0	0	0	0	1	0	0	0	7778	565	20	4	901	4	INTS2	17	59949691	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	8047787	59949691	21245519	223	121371											
METTL2A	339175	broad.mit.edu	37	chr17	60518011	60518011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatccttctcggtgttttGcctttgttcacgacctgtgt	9	10	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:60518011G>T	uc002izv.2	+	6	721	c.703G>T	c.(703-705)GCC>TCC	p.A235S	METTL2A_uc002izw.2_Missense_Mutation_p.A99S	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	235							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TCGGTGTTTTGCCTTTGTTCA	0.378													T	60518011	G	T	60518011	3	4	240	1	0	0	0	0	1	0	0	0	9499	1319	46	5	725	5	METTL2A	17	60518011	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	568320	60518011	20677199	224	121372											
HELZ	9931	broad.mit.edu	37	chr17	65082948	65082948	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaactctgtcttacctaTcaactctctgggctgagctg	7	14	4	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:65082948T>A	uc010wqk.1	-	32	5681	c.5494A>T	c.(5494-5496)ATA>TTA	p.I1832L	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.I1831L	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTCTTACCTATCAACTCTCTG	0.478													A	65082948	T	A	65082948	3	1	240	1	0	0	0	0	1	0	0	0	7049	1435	50	5	345	5	HELZ	17	65082948	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	4564937	65082948	16112262	225	121373											
WIPI1	55062	broad.mit.edu	37	chr17	66423299	66423299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggaggctgaagatGcacttggtctggctacggtc	15	10	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:66423299G>T	uc010dey.2	-	11	1260	c.1169C>A	c.(1168-1170)GCA>GAA	p.A390E	WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.A308E|WIPI1_uc002jhe.3_RNA|MIR635_hsa-mir-635|MI0003650_5'Flank	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	390					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				0						GGCTGAAGATGCACTTGGTCT	0.567													T	66423299	G	T	66423299	3	4	240	1	0	0	0	0	1	0	0	0	17367	1319	46	5	183	5	WIPI1	17	66423299	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1340351	66423299	14771911	226	121374											
SLC39A11	201266	broad.mit.edu	37	chr17	70732815	70732815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcaaaggtagcagatgcCgtcttttctatagccccaaa	7	12	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:70732815C>T	uc002jjb.2	-	7	781	c.666G>A	c.(664-666)ACG>ACA	p.T222T	SLC39A11_uc002jja.2_Silent_p.T215T	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	222					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						TAGCAGATGCCGTCTTTTCTA	0.512													T	70732815	C	T	70732815	2	4	240	1	0	0	0	0	0	0	0	1	14614	639	23	1		1	SLC39A11	17	70732815	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4309516	70732815	10462395	227	121375											
DNAI2	64446	broad.mit.edu	37	chr17	72308221	72308221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaggagaagggtaaggCggagggcagggatgaggagc	22	4	0	3	rs145602856	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:72308221C>T	uc002jkf.2	+	12	1673	c.1574C>T	c.(1573-1575)GCG>GTG	p.A525V	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	525					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AAGGGTAAGGCGGAGGGCAGG	0.622									Kartagener_syndrome				T	72308221	C	T	72308221	3	4	240	1	0	0	0	0	1	0	0	0	4610	768	27	1	1616	1	DNAI2	17	72308221	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1575406	72308221	8886989	228	121376											
L3MBTL4	91133	broad.mit.edu	37	chr18	6046755	6046755	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgcagcacaagcacTgtgaagagaaaagtttatga	12	6	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:6046755T>C	uc002kmz.3	-	17	1605	c.1445_splice	c.e17-1	p.V482_splice	L3MBTL4_uc010dkt.2_Splice_Site_p.V482_splice|L3MBTL4_uc002kmy.3_Intron	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4						chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				gcacaagcactgtgaagagaa	0													C	6046755	T	C	6046755	5	2	240	1	0	0	0	0	0	0	1	0	8594	1594	55	3	444	3	L3MBTL4	18	6046755	Splice_Site	SNP	T	TCGA-FP-7829-01A-11D-2053-08		6046755	72030493	229	121377											
DSG3	1830	broad.mit.edu	37	chr18	29037082	29037082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaaaaagaaacccaattGccaaggtaagttatatcaac	5	9	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:29037082G>T	uc002kws.2	+	3	320	c.211G>T	c.(211-213)GCC>TCC	p.A71S		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	71	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAACCCAATTGCCAAGGTAAG	0.343													T	29037082	G	T	29037082	3	4	240	1	0	0	0	0	1	0	0	0	4778	1319	46	5	221	5	DSG3	18	29037082	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	22990327	29037082	49040166	230	121378											
NOL4	8715	broad.mit.edu	37	chr18	31709844	31709844	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaacttactgctttgtaAgttctcttttgtccagcgtg	7	8	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:31709844A>G	uc010dmi.2	-	2	634	c.405T>C	c.(403-405)ACT>ACC	p.T135T	NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Silent_p.T61T|NOL4_uc010dmh.2_Silent_p.T61T|NOL4_uc010xbu.1_Silent_p.T135T|NOL4_uc002kxt.3_Silent_p.T135T|NOL4_uc010xbw.1_Silent_p.T21T	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	135						nucleolus	RNA binding			ovary(3)	3						CTGCTTTGTAAGTTCTCTTTT	0.333													G	31709844	A	G	31709844	2	3	240	1	0	0	0	0	0	0	0	1	10524	59	3	3		3	NOL4	18	31709844	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	2672762	31709844	46367404	231	121379											
FHOD3	80206	broad.mit.edu	37	chr18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggcggaggcgagcacCggggcctggaccgcagaagg	19	12	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:34205579C>T	uc002kzt.1	+	10	1160	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	FHOD3_uc002kzr.1_Missense_Mutation_p.R355W|FHOD3_uc002kzs.1_Missense_Mutation_p.R355W|FHOD3_uc002kzu.1_Missense_Mutation_p.R180W|FHOD3_uc010dmz.1_Missense_Mutation_p.R108W	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	355	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGCGAGCACCGGGGCCTGGA	0.697													T	34205579	C	T	34205579	3	4	240	1	0	0	0	0	1	0	0	0	5883	643	23	1	1101	1	FHOD3	18	34205579	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	2495735	34205579	43871669	232	121380											
SMAD4	4089	broad.mit.edu	37	chr18	48591904	48591904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgatggatacgtggaccCttctggaggagatcgctttt	13	7	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:48591904C>T	uc010xdp.1	+	9	1605	c.1067C>T	c.(1066-1068)CCT>CTT	p.P356L	SMAD4_uc002lfb.3_Missense_Mutation_p.P201L	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	356	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?(35)|p.?(2)|p.P356L(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		TACGTGGACCCTTCTGGAGGA	0.433									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	48591904	C	T	48591904	3	4	240	1	0	0	0	0	1	0	0	0	14760	681	24	4	1097	4	SMAD4	18	48591904	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	14386325	48591904	29485344	233	121381											
RAX	30062	broad.mit.edu	37	chr18	56939701	56939701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctcatgcagctggtaCgtggtgaaagtcgtgcggtt	14	9	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:56939701C>T	uc002lhx.2	-	2	622	c.435G>A	c.(433-435)ACG>ACA	p.T145T	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	145	Homeobox.				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCAGCTGGTACGTGGTGAAAG	0.642													T	56939701	C	T	56939701	2	4	240	1	0	0	0	0	0	0	0	1	13096	523	19	1		1	RAX	18	56939701	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	8347797	56939701	21137547	234	121382											
C18orf22	79863	broad.mit.edu	37	chr18	77805864	77805864	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgaggcgctcaacaagcaGattatggagtacaaaaggag	12	7	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:77805864G>T	uc002lns.2	+	7	879	c.741G>T	c.(739-741)CAG>CAT	p.Q247H	C18orf22_uc010drh.2_Missense_Mutation_p.R219I|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.Q80H|uc002lnu.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	247					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		TCAACAAGCAGATTATGGAGT	0.572													T	77805864	G	T	77805864	3	4	240	1	0	0	0	0	1	0	0	0	1898	942	33	5	767	5	C18orf22	18	77805864	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	20866163	77805864	271384	235	121383											
ATP8B3	148229	broad.mit.edu	37	chr19	1802601	1802601	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccattccaggcaccccacGaagtggtgcatccgactgtt	9	14	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:1802601G>A	uc002ltw.2	-	11	1182	c.948C>T	c.(946-948)TTC>TTT	p.F316F	ATP8B3_uc002ltv.2_Silent_p.F263F|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Silent_p.F64F|ATP8B3_uc002ltz.1_Silent_p.F263F	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	316	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		GGCACCCCACGAAGTGGTGCA	0.597													A	1802601	G	A	1802601	2	1	240	1	0	0	0	0	0	0	0	1	1196	1049	37	1		1	ATP8B3	19	1802601	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08		1802601	57326382	236	121384											
GNG7	2788	broad.mit.edu	37	chr19	2515067	2515067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaaggggttctccgaggCagggactccgaccagcaggg	15	11	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:2515067C>T	uc002lwd.2	-	5	397	c.160G>A	c.(160-162)GCC>ACC	p.A54T	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	54					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		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)		TTCTCCGAGGCAGGGACTCCG	0.408													T	2515067	C	T	2515067	3	4	240	1	0	0	0	0	1	0	0	0	6531	710	25	2	50	2	GNG7	19	2515067	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	712466	2515067	56613916	237	121385											
KDM4B	23030	broad.mit.edu	37	chr19	5131234	5131234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatccccactggagccccCggtgctgggcccaggccctg	13	19	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:5131234C>T	uc002mbq.3	+	12	1689	c.1463C>T	c.(1462-1464)CCG>CTG	p.P488L	KDM4B_uc010xim.1_Missense_Mutation_p.P522L|KDM4B_uc002mbr.3_Missense_Mutation_p.P246L	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	488	Pro-rich.				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			lung(1)	1						CTGGAGCCCCCGGTGCTGGGC	0.692													T	5131234	C	T	5131234	3	4	240	1	0	0	0	0	1	0	0	0	8129	652	23	1	1501	1	KDM4B	19	5131234	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	2616167	5131234	53997749	238	121386											
DENND1C	79958	broad.mit.edu	37	chr19	6476976	6476976	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaccagctccgttaggttCctctgaggatcagagagtcg	11	12	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:6476976C>T	uc002mfe.2	-	10	662	c.570G>A	c.(568-570)AGG>AGA	p.R190R	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Silent_p.R146R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	190	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CCGTTAGGTTCCTCTGAGGAT	0.647													T	6476976	C	T	6476976	2	4	240	1	0	0	0	0	0	0	0	1	4428	854	30	4		4	DENND1C	19	6476976	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1345742	6476976	52652007	239	121387											
MUC16	94025	broad.mit.edu	37	chr19	9015369	9015369	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagggccaacactggtgttcTtgaacatgggaccaagctgt	13	9	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:9015369T>A	uc002mkp.2	-	30	38423	c.38219A>T	c.(38218-38220)AAG>ATG	p.K12740M	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12742	SEA 5.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTGGTGTTCTTGAACATGGG	0.537													A	9015369	T	A	9015369	3	1	240	1	0	0	0	0	1	0	0	0	9973	1609	56	5	5524	5	MUC16	19	9015369	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	2538393	9015369	50113614	240	121388											
OR7G1	125962	broad.mit.edu	37	chr19	9225581	9225581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggctgtagatgaaggGgttcatcatttgagggacca	13	7	3	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:9225581G>A	uc002mks.1	-	1	859	c.859C>T	c.(859-861)CCC>TCC	p.P287S		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TAGATGAAGGGGTTCATCATT	0.438													A	9225581	G	A	9225581	3	1	240	1	0	0	0	0	1	0	0	0	11222	1232	43	4	150	4	OR7G1	19	9225581	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	210212	9225581	49903402	241	121389											
ZNF699	374879	broad.mit.edu	37	chr19	9407101	9407101	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatctccactgtgaattcTtttgtgtttggagagtgagg	11	6	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:9407101T>G	uc002mlc.1	-	5	979	c.979A>C	c.(979-981)AGA>CGA	p.R327R		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	327	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGTGAATTCTTTTGTGTTTG	0.408													G	9407101	T	G	9407101	2	3	240	1	0	0	0	0	0	0	0	1	18098	1617	56	5		5	ZNF699	19	9407101	Silent	SNP	T	TCGA-FP-7829-01A-11D-2053-08	181520	9407101	49721882	242	121390											
RDH8	50700	broad.mit.edu	37	chr19	10132297	10132297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaccacgctcaaaaccGtggattcctctggcagcctg	10	15	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:10132297G>A	uc002mmr.2	+	6	1057	c.808G>A	c.(808-810)GTG>ATG	p.V270M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	270					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			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTCAAAACCGTGGATTCCTC	0.607													A	10132297	G	A	10132297	3	1	240	1	0	0	0	0	1	0	0	0	13196	1145	40	1	830	1	RDH8	19	10132297	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	725196	10132297	48996686	243	121391											
CC2D1A	54862	broad.mit.edu	37	chr19	14037367	14037368	+	Frame_Shift_Ins	INS	-	-	TCATC													cagcaacgacatgctcctctINStcatcgtgaagggcatcaac							TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:14037367_14037368insTCATC	uc002mxo.2	+	18	2277_2278	c.1978_1979insTCATC	c.(1978-1980)TTCfs	p.F660fs	CC2D1A_uc002mxp.2_Frame_Shift_Ins_p.F660fs|CC2D1A_uc010dzh.2_Frame_Shift_Ins_p.F229fs|CC2D1A_uc002mxq.1_Frame_Shift_Ins_p.F305fs	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	660	C2.				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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CATGCTCCTCTTCATCGTGAAG	0.535													TCATC	14037368	-	TCATC	14037367	7	5	240	1	0	1	1	0	0	0	0	0	2726	1609	56	0	2048	0	CC2D1A	19	14037367	Frame_Shift_Ins	INS	-	TCGA-FP-7829-01A-11D-2053-08	3905070	14037367	45091616	244	121392	622	2									
CC2D1A	54862	broad.mit.edu	37	chr19	14037368	14037369	+	Frame_Shift_Ins	INS	-	-	TCATC													agcaacgacatgctcctcttINScatcgtgaagggcatcaact							TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:14037367_14037368T>TTCATC	uc002mxo.2	+	17	2277_2278	c.1978_1979T>TTCATC	c.(1978-1980)ttcfs	p.F660fs	CC2D1A_uc002mxp.2_Frame_Shift_Ins_p.F660fs|CC2D1A_uc010dzh.2_Frame_Shift_Ins_p.F229fs|CC2D1A_uc002mxq.1_Frame_Shift_Ins_p.F305fs	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	660	C2.				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)			CATGCTCCTCTTCATCGTGAAG	0.634													TCATC	14037369	-	TCATC	14037368	7	5	240	1	0	1	1	0	0	0	0	0	2726	1783	62	0	2049	0	CC2D1A	19	14037368	Frame_Shift_Ins	INS	-	TCGA-FP-7829-01A-11D-2053-08	1	14037368	45091615	245	121393	622	2									
NWD1	284434	broad.mit.edu	37	chr19	16860348	16860348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggctctaccaagagatcCgccaccacctttggcagagc	10	15	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:16860348C>T	uc002neu.3	+	6	1317	c.895C>T	c.(895-897)CGC>TGC	p.R299C	NWD1_uc002net.3_Missense_Mutation_p.R164C|NWD1_uc002nev.3_Missense_Mutation_p.R93C			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	299	WD 1.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CCAAGAGATCCGCCACCACCT	0.622													T	16860348	C	T	16860348	3	4	240	1	0	0	0	0	1	0	0	0	10781	652	23	1	496	1	NWD1	19	16860348	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	2822980	16860348	42268635	246	121394											
MEF2B	100271849	broad.mit.edu	37	chr19	19261546	19261546	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttttttcctccccatcGtcccaggctgagtggaatga	10	11	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:19261546G>A	uc002nlm.2	-	2	113	c.-1C>T	c.(-3-1)GACGA>GATGA		MEF2B_uc002nln.2_Missense_Mutation_p.T47M|MEF2B_uc002nll.2_Translation_Start_Site|LOC729991-MEF2B_uc010xqo.1_Translation_Start_Site|LOC729991-MEF2B_uc010xqp.1_Translation_Start_Site|LOC729991-MEF2B_uc002nlo.2_Translation_Start_Site|LOC729991-MEF2B_uc002nlp.2_Translation_Start_Site|MEF2B_uc002nlk.2_Translation_Start_Site	NM_001145785	NP_001139257			myocyte enhancer factor 2B isoform a											skin(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CCTCCCCATCGTCCCAGGCTG	0.557													A	19261546	G	A	19261546	1	1	240	1	0	0	0	0	0	0	0	0	9456	1160	40	1		1	MEF2B	19	19261546	Translation_Start_Site	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2401198	19261546	39867437	247	121395											
CILP2	148113	broad.mit.edu	37	chr19	19654586	19654586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtggccctgcctacctggAtgtgggcctctgtcccgaca	12	14	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:19654586A>G	uc002nmv.3	+	8	1317	c.1232A>G	c.(1231-1233)GAT>GGT	p.D411G	CILP2_uc002nmw.3_Missense_Mutation_p.D417G	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	411						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCTACCTGGATGTGGGCCTC	0.716													G	19654586	A	G	19654586	3	3	240	1	0	0	0	0	1	0	0	0	3430	333	12	3	1262	3	CILP2	19	19654586	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	393040	19654586	39474397	248	121396											
ZNF429	353088	broad.mit.edu	37	chr19	21719370	21719370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacatactggaaagaaacCtttccagtgtaaaaaatgtg	8	6	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:21719370C>A	uc002nqd.1	+	4	652	c.515C>A	c.(514-516)CCT>CAT	p.P172H	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGAAAGAAACCTTTCCAGTGT	0.313													A	21719370	C	A	21719370	3	1	240	1	0	0	0	0	1	0	0	0	17899	681	24	5	529	5	ZNF429	19	21719370	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	2064784	21719370	37409613	249	121397											
ZNF536	9745	broad.mit.edu	37	chr19	31039309	31039309	+	Frame_Shift_Del	DEL	G	G	-													catggacagttttgtcctcaGttccttgaagaaggagaagg							TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:31039308_31039308AG>A	uc002nsu.1	+	3	2920	c.2782_2782AG>A	c.(2782-2784)agtfs	p.S928fs	ZNF536_uc010edd.1_Frame_Shift_Del_p.S928fs	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	928					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)					TTTTGTCCTCAGTTCCTTGAA	0.507													-	31039309	G	-	31039309	7	5	240	1	0	1	0	1	0	0	0	0	17971	1029	36	0	2793	0	ZNF536	19	31039309	Frame_Shift_Del	DEL	G	TCGA-FP-7829-01A-11D-2053-08	9319939	31039309	28089674	250	121398											
TSHZ3	57616	broad.mit.edu	37	chr19	31769276	31769276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgaccgctttctccttgtCgacttccttcttgacctcca	6	15	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:31769276C>T	uc002nsy.3	-	2	1488	c.1423G>A	c.(1423-1425)GAC>AAC	p.D475N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	475					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TTCTCCTTGTCGACTTCCTTC	0.522													T	31769276	C	T	31769276	3	4	240	1	0	0	0	0	1	0	0	0	16622	884	31	1	1826	1	TSHZ3	19	31769276	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	729967	31769276	27359707	251	121399											
ZNF781	163115	broad.mit.edu	37	chr19	38160615	38160615	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcccacattctgtacattCgtaaagtctctcatcagtgt	5	12	4	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:38160615C>T	uc002ogy.2	-	4	1177	c.435G>A	c.(433-435)ACG>ACA	p.T145T	ZNF781_uc002ogz.2_Silent_p.T140T	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTGTACATTCGTAAAGTCTC	0.388													T	38160615	C	T	38160615	2	4	240	1	0	0	0	0	0	0	0	1	18151	871	31	1		1	ZNF781	19	38160615	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	6391339	38160615	20968368	252	121400											
C19orf61	56006	broad.mit.edu	37	chr19	44244320	44244320	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcgatgccactggtctggTtgccccctcgttccttcatt	9	14	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:44244320T>A	uc002oxj.2	-	7	1095	c.752A>T	c.(751-753)AAC>ATC	p.N251I	C19orf61_uc002oxk.2_Missense_Mutation_p.N251I|C19orf61_uc010eiy.1_Missense_Mutation_p.N251I	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	251					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				ACTGGTCTGGTTGCCCCCTCG	0.572													A	44244320	T	A	44244320	3	1	240	1	0	0	0	0	1	0	0	0	1943	1725	60	5	842	5	C19orf61	19	44244320	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	6083705	44244320	14884663	253	121401											
FBXO46	23403	broad.mit.edu	37	chr19	46215975	46215975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgcggaaggcgatgCgcacctccccagggcctggc	16	13	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:46215975C>T	uc002pcy.2	-	2	904	c.779G>A	c.(778-780)CGC>CAC	p.R260H	FBXO46_uc002pcz.2_Missense_Mutation_p.R260H	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	260							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		GAAGGCGATGCGCACCTCCCC	0.726													T	46215975	C	T	46215975	3	4	240	1	0	0	0	0	1	0	0	0	5755	768	27	1	1036	1	FBXO46	19	46215975	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1971655	46215975	12913008	254	121402											
LIG1	3978	broad.mit.edu	37	chr19	48636295	48636295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctgcctcctcaaagcGtttcaggacctcgctgatgc	10	13	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:48636295G>A	uc002pia.1	-	18	1789	c.1669C>T	c.(1669-1671)CGC>TGC	p.R557C	LIG1_uc010xze.1_Missense_Mutation_p.R250C|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R489C|LIG1_uc010xzg.1_Missense_Mutation_p.R526C	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	557					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			large_intestine(2)|lung(1)	3		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)	TCCTCAAAGCGTTTCAGGACC	0.557								NER					A	48636295	G	A	48636295	3	1	240	1	0	0	0	0	1	0	0	0	8781	1145	40	1	1134	1	LIG1	19	48636295	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2420320	48636295	10492688	255	121403											
LMTK3	114783	broad.mit.edu	37	chr19	48994447	48994447	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcgggagaagcacagCggggggcctggaggggggag	24	6	0	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:48994447C>A	uc002pjk.2	-	15	4371	c.4371G>T	c.(4369-4371)CCG>CCT	p.P1457P		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGAAGCACAGCGGGGGGCCTG	0.537													A	48994447	C	A	48994447	2	1	240	1	0	0	0	0	0	0	0	1	8860	755	27	5		5	LMTK3	19	48994447	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	358152	48994447	10134536	256	121404											
SLC17A7	57030	broad.mit.edu	37	chr19	49936185	49936185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcatagactggcatagaCgtgaagaagcgccgccaggg	15	9	0	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:49936185C>T	uc002pnp.2	-	8	1072	c.900G>A	c.(898-900)ACG>ACA	p.T300T	SLC17A7_uc002pno.2_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	300	Cytoplasmic (Potential).				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			ovary(1)|pancreas(1)|skin(1)	3		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)		CTGGCATAGACGTGAAGAAGC	0.622													T	49936185	C	T	49936185	2	4	240	1	0	0	0	0	0	0	0	1	14422	523	19	1		1	SLC17A7	19	49936185	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	941738	49936185	9192798	257	121405											
NUP62	23636	broad.mit.edu	37	chr19	50411805	50411806	+	Frame_Shift_Del	DEL	GG	GG	-													tccgcgtgctgcaggtagatGgtcccgctctgctccttgac					rs143078249		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:50411804_50411805TGG>T	uc002prb.3	-	1	1504_1505	c.1260_1261CCA>A	c.(1258-1263)accatcfs	p.T420fs	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Frame_Shift_Del_p.T420fs|NUP62_uc002pqy.3_Frame_Shift_Del_p.T420fs|NUP62_uc002pra.3_Frame_Shift_Del_p.T420fs|NUP62_uc002pqz.3_Frame_Shift_Del_p.T420fs|NUP62_uc002prc.3_Frame_Shift_Del_p.T344fs|NUP62_uc021uya.1_Frame_Shift_Del_p.T420fs	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	420					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.G419W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGCAGGTAGATGGTCCCGCTCT	0.579													-	50411806	GG	-	50411805	7	5	240	1	0	1	0	1	0	0	0	0	10768	1335	47	0	312	0	NUP62	19	50411805	Frame_Shift_Del	DEL	GG	TCGA-FP-7829-01A-11D-2053-08	475620	50411805	8717178	258	121406											
ACPT	93650	broad.mit.edu	37	chr19	51293690	51293690	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggccggcctggggtttTggggccaccctgctggacct	15	12	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:51293690T>G	uc002pta.1	+	1	19	c.19T>G	c.(19-21)TGG>GGG	p.W7G		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	7						integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGGGGTTTTGGGGCCACCC	0.617													G	51293690	T	G	51293690	3	3	240	1	0	0	0	0	1	0	0	0	168	1812	63	5	21	5	ACPT	19	51293690	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	881885	51293690	7835293	259	121407											
ZNF880	400713	broad.mit.edu	37	chr19	52887920	52887920	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgtggcaaggtcttcaatCgaaatgcacaccttaccaga	8	10	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:52887920C>T	uc002pzc.2	+	4	1136	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*		NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	zinc finger protein LOC400713	363	C2H2-type 7.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						GGTCTTCAATCGAAATGCACA	0.403													T	52887920	C	T	52887920	4	4	240	1	0	0	0	0	0	1	0	0	18194	876	31	1	1101	1	ZNF880	19	52887920	Nonsense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	1594230	52887920	6241063	260	121408											
KIR2DL4	3805	broad.mit.edu	37	chr19	55316320	55316320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggacacgtgactcttcGgtgtcactatcgtcgtgggt	14	9	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:55316320G>A	uc010yfm.1	+	3	189	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.R45Q|KIR2DL4_uc002qhg.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhi.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.R50Q|KIR2DL4_uc010ese.2_5'Flank	NM_002255	NP_002246	Q99706	KI2L4_HUMAN	killer cell immunoglobulin-like receptor, two	50	Ig-like C2-type 1.|Extracellular (Potential).				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0192)		GTGACTCTTCGGTGTCACTAT	0.547													A	55316320	G	A	55316320	3	1	240	1	0	0	0	0	1	0	0	0	8318	1116	39	1	159	1	KIR2DL4	19	55316320	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2428400	55316320	3812663	261	121409											
KIR2DS4	3809	broad.mit.edu	37	chr19	55349296	55349296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactccccctatcagttgtcAgctcccagtgaccctctgga	7	17	3	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:55349296A>G	uc002qhm.1	+	3	382	c.336A>G	c.(334-336)TCA>TCG	p.S112S	KIR2DS4_uc010yfj.1_Silent_p.S105S|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.S112S|KIR2DS4_uc002qhn.1_Silent_p.S59S	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	112	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		ATCAGTTGTCAGCTCCCAGTG	0.512													G	55349296	A	G	55349296	2	3	240	1	0	0	0	0	0	0	0	1	8319	175	7	3		3	KIR2DS4	19	55349296	Silent	SNP	A	TCGA-FP-7829-01A-11D-2053-08	32976	55349296	3779687	262	121410											
SAPS1	22870	broad.mit.edu	37	chr19	55750801	55750801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctcctgctccccaaactCctcatcattgaagccgaagt	5	17	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:55750801C>T	uc002qjw.3	-	15	1965	c.1723G>A	c.(1723-1725)GAG>AAG	p.E575K	SAPS1_uc002qjv.2_Missense_Mutation_p.E637K	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	575					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCCCAAACTCCTCATCATTG	0.592													T	55750801	C	T	55750801	3	4	240	1	0	0	0	0	1	0	0	0	13836	864	30	4	962	4	SAPS1	19	55750801	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	401505	55750801	3378182	263	121411											
ZFP28	140612	broad.mit.edu	37	chr19	57066450	57066450	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtgtgtggcaaagccTttagtcatcgtcaatccctt	10	10	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:57066450T>A	uc002qnj.2	+	8	2367	c.2296T>A	c.(2296-2298)TTT>ATT	p.F766I	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	766	C2H2-type 13.			Missing (in Ref. 4).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGGCAAAGCCTTTAGTCATCG	0.398													A	57066450	T	A	57066450	3	1	240	1	0	0	0	0	1	0	0	0	17639	1609	56	5	2326	5	ZFP28	19	57066450	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	1315649	57066450	2062533	264	121412											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596724	58596724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgcaggcgcacccagcGctctcctgccgcctcccgcc	9	23	1	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:58596724G>A	uc002qri.2	-	7	1170	c.861C>T	c.(859-861)AGC>AGT	p.S287S	ZSCAN18_uc002qrj.3_Silent_p.S286S|ZSCAN18_uc010yhs.1_Silent_p.S151S|ZSCAN18_uc002qrh.2_Silent_p.S287S|ZSCAN18_uc010yht.1_Silent_p.S343S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	287					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		CGCACCCAGCGCTCTCCTGCC	0.751													A	58596724	G	A	58596724	2	1	240	1	0	0	0	0	0	0	0	1	18227	1078	38	1		1	ZSCAN18	19	58596724	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1530274	58596724	532259	265	121413											
SIRPB2	284759	broad.mit.edu	37	chr20	1456815	1456815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctggggctgacccctcaCtcttgacccttgctccatgc	8	17	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:1456815C>T	uc002wfg.2	-	5	1254	c.1026G>A	c.(1024-1026)GAG>GAA	p.E342E	SIRPB2_uc002wfh.3_Silent_p.E244E	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	342	Cytoplasmic (Potential).					integral to membrane					0						TGACCCCTCACTCTTGACCCT	0.612													T	1456815	C	T	1456815	2	4	240	1	0	0	0	0	0	0	0	1	14334	564	20	4		4	SIRPB2	20	1456815	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08		1456815	61568705	266	121414											
ZNF341	84905	broad.mit.edu	37	chr20	32336741	32336741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagatctccacatacAtcacagtgcccccgtcccca	5	19	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:32336741A>G	uc002wzy.2	+	4	372	c.352A>G	c.(352-354)ATC>GTC	p.I118V	ZNF341_uc002wzx.2_Missense_Mutation_p.I118V|ZNF341_uc010geq.2_Missense_Mutation_p.I28V|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTCCACATACATCACAGTGCC	0.448													G	32336741	A	G	32336741	3	3	240	1	0	0	0	0	1	0	0	0	17854	217	8	3	366	3	ZNF341	20	32336741	Missense_Mutation	SNP	A	TCGA-FP-7829-01A-11D-2053-08	30879926	32336741	30688779	267	121415											
GDF5	8200	broad.mit.edu	37	chr20	34022548	34022548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcactaatgtcaaacacgTacctctgcttcctgaccacg	8	14	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:34022548T>C	uc002xck.1	-	2	984	c.665A>G	c.(664-666)TAC>TGC	p.Y222C	GDF5_uc010gfc.1_Missense_Mutation_p.Y222C|uc002xcj.2_Missense_Mutation_p.V320A|GDF5_uc010zvc.1_Missense_Mutation_p.Y222C	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	222					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GTCAAACACGTACCTCTGCTT	0.617													C	34022548	T	C	34022548	3	2	240	1	0	0	0	0	1	0	0	0	6316	1638	57	3	844	3	GDF5	20	34022548	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	1685807	34022548	29002972	268	121416											
NEURL2	140825	broad.mit.edu	37	chr20	44519401	44519401	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagacgcagatgtccgcacCagcccagctctttctcctcg	9	17	2	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:44519401C>T	uc002xqg.1	-	1	501	c.230G>A	c.(229-231)TGG>TAG	p.W77*	CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	77	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				ATGTCCGCACCAGCCCAGCTC	0.677													T	44519401	C	T	44519401	4	4	240	1	0	0	0	0	0	1	0	0	10346	595	21	4	635	4	NEURL2	20	44519401	Nonsense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	10496853	44519401	18506119	269	121417											
MMP9	4318	broad.mit.edu	37	chr20	44642407	44642407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcggtctttgaggagcgGctctccaagaagcttttctt	11	10	3	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:44642407G>A	uc002xqz.2	+	10	1741	c.1722G>A	c.(1720-1722)CGG>CGA	p.R574R		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	574	Hemopexin-like 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTGAGGAGCGGCTCTCCAAGA	0.577											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44642407	G	A	44642407	2	1	240	1	0	0	0	0	0	0	0	1	9669	1190	42	2		2	MMP9	20	44642407	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	123006	44642407	18383113	270	121418											
ARFGEF2	10564	broad.mit.edu	37	chr20	47602105	47602105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagcccaaaagattgaccGattaatggagaagtttgccg	11	7	0	4			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:47602105G>A	uc002xtx.3	+	16	2383	c.2231G>A	c.(2230-2232)CGA>CAA	p.R744Q	ARFGEF2_uc010zyf.1_Missense_Mutation_p.R37Q	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	744	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGATTGACCGATTAATGGAG	0.483													A	47602105	G	A	47602105	3	1	240	1	0	0	0	0	1	0	0	0	853	1058	37	1	2293	1	ARFGEF2	20	47602105	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	2959698	47602105	15423415	271	121419											
CASS4	57091	broad.mit.edu	37	chr20	55033513	55033513	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaagccatcagcgcatttCacggcagcctcagcagcagc	9	15	4	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:55033513C>T	uc002xxp.2	+	7	2296	c.2071C>T	c.(2071-2073)CAC>TAC	p.H691Y	CASS4_uc002xxr.2_Missense_Mutation_p.H691Y|CASS4_uc010zze.1_Missense_Mutation_p.H637Y|CASS4_uc010gio.2_Missense_Mutation_p.H254Y	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	691					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						CAGCGCATTTCACGGCAGCCT	0.577													T	55033513	C	T	55033513	3	4	240	1	0	0	0	0	1	0	0	0	2683	826	29	4	2093	4	CASS4	20	55033513	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	7431408	55033513	7992007	272	121420											
GMEB2	26205	broad.mit.edu	37	chr20	62234354	62234354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgccgggacacacaaaCttcctccagatgaggttggc	11	11	0	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:62234354C>T	uc002yfp.1	-	3	800	c.321G>A	c.(319-321)AAG>AAA	p.K107K	GMEB2_uc002yfo.1_Silent_p.K29K|GMEB2_uc002yfq.1_Silent_p.K107K	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	107	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	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)			GACACACAAACTTCCTCCAGA	0.542													T	62234354	C	T	62234354	2	4	240	1	0	0	0	0	0	0	0	1	6488	564	20	4		4	GMEB2	20	62234354	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	7200841	62234354	791166	273	121421											
CLDN17	26285	broad.mit.edu	37	chr21	31538438	31538438	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagcgcttgcccagccaagGaaaagtgctgctcccagctc	11	15	0	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr21:31538438G>T	uc011acv.1	-	1	498	c.498C>A	c.(496-498)TTC>TTA	p.F166L		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	166	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						CCCAGCCAAGGAAAAGTGCTG	0.502													T	31538438	G	T	31538438	3	4	240	1	0	0	0	0	1	0	0	0	3478	1165	41	5	180	5	CLDN17	21	31538438	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08		31538438	16591457	274	121422											
MICAL3	57553	broad.mit.edu	37	chr22	18389633	18389633	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggatggctgtgggtccaCctgacactgtcacgttaatc	13	10	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr22:18389633C>T	uc002zng.3	-	2	299	c.-54G>A	c.(-56--52)AGGTG>AGATG		MICAL3_uc011agl.1_Translation_Start_Site|MICAL3_uc002znh.2_Translation_Start_Site|MICAL3_uc002znk.1_Translation_Start_Site|MICAL3_uc002znl.1_Translation_Start_Site|MICAL3_uc010grf.2_Translation_Start_Site|MICAL3_uc011agm.1_Translation_Start_Site	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TGTGGGTCCACCTGACACTGT	0.498													T	18389633	C	T	18389633	1	4	240	1	0	0	0	0	0	0	0	0	9571	522	18	4		4	MICAL3	22	18389633	Translation_Start_Site	SNP	C	TCGA-FP-7829-01A-11D-2053-08		18389633	32914933	275	121423											
MKL1	57591	broad.mit.edu	37	chr22	40814951	40814951	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgggggccctcctccttcacGaggatctgcagtggcgaggc	15	14	2	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr22:40814951G>C	uc003ayv.1	-	9	1698	c.1491C>G	c.(1489-1491)CTC>CTG	p.L497L	MKL1_uc003ayw.1_Silent_p.L497L|MKL1_uc010gye.1_Silent_p.L497L|MKL1_uc010gyf.1_Silent_p.L447L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	497					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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CCTCCTTCACGAGGATCTGCA	0.667			T	RBM15	acute megakaryocytic leukemia								C	40814951	G	C	40814951	2	2	240	1	0	0	0	0	0	0	0	1	9601	1045	37	5		5	MKL1	22	40814951	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	22425318	40814951	10489615	276	121424											
MEI1	150365	broad.mit.edu	37	chr22	42189872	42189872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcctgtgttggctgcctgGaggccttgcttgactacctg	14	11	0	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr22:42189872G>A	uc003baz.1	+	27	3410	c.3385G>A	c.(3385-3387)GAG>AAG	p.E1129K	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.E515K|MEI1_uc003bbc.1_Missense_Mutation_p.E497K|MEI1_uc010gym.1_Missense_Mutation_p.E462K|MEI1_uc003bbd.1_Missense_Mutation_p.E372K|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Missense_Mutation_p.E143K|MEI1_uc010gyo.1_Missense_Mutation_p.G84E|MEI1_uc003bbf.2_Missense_Mutation_p.E143K|MEI1_uc003bbg.2_Missense_Mutation_p.E143K	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1129							binding			central_nervous_system(1)|skin(1)	2						TGGCTGCCTGGAGGCCTTGCT	0.393													A	42189872	G	A	42189872	3	1	240	1	0	0	0	0	1	0	0	0	9465	1175	41	4	3491	4	MEI1	22	42189872	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1374921	42189872	9114694	277	121425											
MXRA5	25878	broad.mit.edu	37	chrX	3229022	3229022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgtcagaacgctgggCtttctgaataaggagagtgc	14	9	2	3			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:3229022C>A	uc004crg.3	-	7	7379	c.7222G>T	c.(7222-7224)GCC>TCC	p.A2408S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2408	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAACGCTGGGCTTTCTGAATA	0.537													A	3229022	C	A	3229022	3	1	240	1	0	0	0	0	1	0	0	0	10003	797	28	5	1268	5	MXRA5	23	3229022	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08		3229022	152041538	278	121426											
KLF8	11279	broad.mit.edu	37	chrX	56295828	56295828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaaagttgaccccaccTccatgtctccactggaaatt	7	12	1	2			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:56295828T>C	uc004dur.2	+	4	1610	c.664T>C	c.(664-666)TCC>CCC	p.S222P	KLF8_uc010nkg.2_3'UTR|KLF8_uc011mop.1_Missense_Mutation_p.S222P|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGACCCCACCTCCATGTCTCC	0.473													C	56295828	T	C	56295828	3	2	240	1	0	0	0	0	1	0	0	0	8352	1551	54	3	678	3	KLF8	23	56295828	Missense_Mutation	SNP	T	TCGA-FP-7829-01A-11D-2053-08	53066806	56295828	98974732	279	121427											
TCEAL6	158931	broad.mit.edu	37	chrX	101396191	101396191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcattctgtcttcccctccGcgtctggcttttcttcctcg	7	17	4	0			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:101396191G>A	uc004eiq.2	-	3	274	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A38T(1)		ovary(1)	1						cttcccctccgcgtctggctt	0.144													A	101396191	G	A	101396191	3	1	240	1	0	0	0	0	1	0	0	0	15672	1087	38	1	442	1	TCEAL6	23	101396191	Missense_Mutation	SNP	G	TCGA-FP-7829-01A-11D-2053-08	45100363	101396191	53874369	280	121428											
TBC1D8B	54885	broad.mit.edu	37	chrX	106069425	106069425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattatatctgctttgctagCcaagatggcaatcagtgtag	9	7	2	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:106069425C>T	uc004emo.2	+	6	1158	c.993C>T	c.(991-993)AGC>AGT	p.S331S	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Silent_p.S331S|TBC1D8B_uc004emn.2_Silent_p.S331S	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	331	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCTTTGCTAGCCAAGATGGCA	0.353													T	106069425	C	T	106069425	2	4	240	1	0	0	0	0	0	0	0	1	15623	738	26	2		2	TBC1D8B	23	106069425	Silent	SNP	C	TCGA-FP-7829-01A-11D-2053-08	4673234	106069425	49201135	281	121429											
COL4A6	1288	broad.mit.edu	37	chrX	107400416	107400416	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcattcgatgaaaggagtGgcccgaaagtcctctaggca	12	10	1	1			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:107400416G>T	uc004enw.3	-	45	4993	c.4890C>A	c.(4888-4890)GCC>GCA	p.A1630A	COL4A6_uc004env.3_Silent_p.A1629A|COL4A6_uc011msn.1_Silent_p.A1605A|COL4A6_uc010npk.2_Silent_p.A1572A|COL4A6_uc011msm.1_Silent_p.A164A|COL4A6_uc010npj.2_Silent_p.A109A	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1630	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						TGAAAGGAGTGGCCCGAAAGT	0.567									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107400416	G	T	107400416	2	4	240	1	0	0	0	0	0	0	0	1	3695	1335	47	5		5	COL4A6	23	107400416	Silent	SNP	G	TCGA-FP-7829-01A-11D-2053-08	1330991	107400416	47870144	282	121430											
TKTL1	8277	broad.mit.edu	37	chrX	153524217	153524217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggggttggactaatggCggatgctgaggcgagggctg	19	6	0	1	rs141543964		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:153524217C>T	uc004fkg.2	+	1	191	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.A2V|TKTL1_uc011mzm.1_Missense_Mutation_p.A2V	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	2					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	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													T	153524217	C	T	153524217	3	4	240	1	0	0	0	0	1	0	0	0	15932	768	27	1	7	1	TKTL1	23	153524217	Missense_Mutation	SNP	C	TCGA-FP-7829-01A-11D-2053-08	46123801	153524217	1746343	283	121431											
HP1BP3	50809	broad.mit.edu	37	chr1	21071490	21071490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggcctagctttcccccGctgggcagctgagactttag	12	13	0	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:21071490G>A	uc001bdw.1	-	13	1602	c.1462C>T	c.(1462-1464)CGG>TGG	p.R488W	HP1BP3_uc001bdv.1_Missense_Mutation_p.R450W|HP1BP3_uc010odh.1_Missense_Mutation_p.R450W|HP1BP3_uc001bdy.1_Missense_Mutation_p.R488W|HP1BP3_uc010odf.1_Missense_Mutation_p.R147W|HP1BP3_uc010odg.1_Missense_Mutation_p.R336W	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	488	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		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)		GCTTTCCCCCGCTGGGCAGCT	0.557													A	21071490	G	A	21071490	3	1	241	1	0	0	0	0	1	0	0	0	7328	1086	38	1	203	1	HP1BP3	1	21071490	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08		21071490	228179131	1	121432											
ARID1A	8289	broad.mit.edu	37	chr1	27102187	27102200	+	Splice_Site	DEL	AACCTCAGTCAGGT	AACCTCAGTCAGGT	-													acaacagcatcatgaccttcAacctcagtcaggtgagtatc					rs61756316	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:27102186_27102199CAACCTCAGTCAGGT>C	uc001bmv.1	+	19	5497	c.5124_splice	c.e19+1	p.Q1708_splice	ARID1A_uc001bmt.1_3'UTR|ARID1A_uc001bmu.1_Splice_Site_p.Q1491_splice|ARID1A_uc001bmx.1_Splice_Site_p.Q554_splice|ARID1A_uc009vsm.1_Splice_Site_p.Q36_splice|ARID1A_uc009vsn.1_Splice_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1708					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q1708*(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)		TCATGACCTTCAACCTCAGTCAGGTGAGTATCAG	0.472			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27102200	AACCTCAGTCAGGT	-	27102187	8	5	241	1	0	1	0	1	0	0	1	0	913	130	5	0	5187	0	ARID1A	1	27102187	Splice_Site	DEL	AACCTCAGTCAGGT	TCGA-FP-7916-01A-11D-2201-08	6030697	27102187	222148434	2	121433											
RAVER2	55225	broad.mit.edu	37	chr1	65255185	65255185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccagttatgtggacgaGctgttaaaccaggtatggac	12	9	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:65255185G>A	uc001dbs.1	+	5	1171	c.1093G>A	c.(1093-1095)GCT>ACT	p.A365T	RAVER2_uc001dbt.1_Missense_Mutation_p.A244T|RAVER2_uc010opb.1_Missense_Mutation_p.A244T	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	365						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						ATGTGGACGAGCTGTTAAACC	0.358													A	65255185	G	A	65255185	3	1	241	1	0	0	0	0	1	0	0	0	13095	971	34	2	1111	2	RAVER2	1	65255185	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	38152998	65255185	183995436	3	121434											
ADORA3	140	broad.mit.edu	37	chr1	112031538	112031538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtagtcacggaaatagcctCggcaccagtatttggggtga	13	8	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:112031538C>T	uc001ebf.2	-	3	1333	c.566G>A	c.(565-567)CGA>CAA	p.R189Q	ADORA3_uc001ebg.3_Missense_Mutation_p.R108Q	NM_020683	NP_065734	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 1	Error:Variant_position_missing_in_P33765_after_alignment					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.P189P(1)		ovary(2)|large_intestine(1)|skin(1)	4		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)	GAAATAGCCTCGGCACCAGTA	0.507													T	112031538	C	T	112031538	3	4	241	1	0	0	0	0	1	0	0	0	329	884	31	1	493	1	ADORA3	1	112031538	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	46776353	112031538	137219083	4	121435											
NOTCH2	4853	broad.mit.edu	37	chr1	120493400	120493400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttatgtcatcaaagcagGttccttggttcaggcatgga	10	9	3	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:120493400G>T	uc001eik.2	-	15	2682	c.2426C>A	c.(2425-2427)ACC>AAC	p.T809N	NOTCH2_uc001eil.2_Missense_Mutation_p.T809N|NOTCH2_uc001eim.3_Missense_Mutation_p.T726N	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	809	EGF-like 21; calcium-binding (Potential).|Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		ATCAAAGCAGGTTCCTTGGTT	0.463			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120493400	G	T	120493400	3	4	241	1	0	0	0	0	1	0	0	0	10548	1261	44	5	5069	5	NOTCH2	1	120493400	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	8461862	120493400	128757221	5	121436											
NBPF16	728936	broad.mit.edu	37	chr1	148753300	148753300	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtcttgcaggactcActggatagatgttattcgac	10	9	2	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:148753300A>C	uc010pba.1	+	12	1508	c.1317A>C	c.(1315-1317)TCA>TCC	p.S439S	NBPF16_uc009wkt.1_Silent_p.S219S	NM_001102663	NP_001096133			hypothetical protein LOC728936												0	all_hematologic(923;0.032)					TGCAGGACTCACTGGATAGAT	0.468													C	148753300	A	C	148753300	2	2	241	1	0	0	0	0	0	0	0	1	10196	146	6	5		5	NBPF16	1	148753300	Silent	SNP	A	TCGA-FP-7916-01A-11D-2201-08	28259900	148753300	100497321	6	121437											
HRNR	388697	broad.mit.edu	37	chr1	152188175	152188175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagactcatatgggccaCggctggaagaccaccctgag	12	13	1	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:152188175C>T	uc001ezt.1	-	3	6006	c.5930G>A	c.(5929-5931)CGT>CAT	p.R1977H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1977	22.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTGGAAGA	0.602													T	152188175	C	T	152188175	3	4	241	1	0	0	0	0	1	0	0	0	7359	536	19	1	2626	1	HRNR	1	152188175	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	3434875	152188175	97062446	7	121438											
IGSF9	57549	broad.mit.edu	37	chr1	159897636	159897636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attccatgtccccagggaatTctgagtcccactcatagttc	7	13	2	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:159897636T>G	uc001fur.2	-	20	3470	c.3272A>C	c.(3271-3273)GAA>GCA	p.E1091A	IGSF9_uc001fuq.2_Missense_Mutation_p.E1075A|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.E237A	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	1091	Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGGGAATTCTGAGTCCCA	0.512													G	159897636	T	G	159897636	3	3	241	1	0	0	0	0	1	0	0	0	7605	1783	62	5	275	5	IGSF9	1	159897636	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	7709461	159897636	89352985	8	121439											
FMO4	2329	broad.mit.edu	37	chr1	171310946	171310946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaactacaggacagaatgTccccttacctagtaagtctt	6	10	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:171310946T>C	uc001gho.2	+	10	1862	c.1645T>C	c.(1645-1647)TCC>CCC	p.S549P		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	549					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGACAGAATGTCCCCTTACCT	0.338													C	171310946	T	C	171310946	3	2	241	1	0	0	0	0	1	0	0	0	5957	1667	58	3	1675	3	FMO4	1	171310946	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	11413310	171310946	77939675	9	121440											
TNFSF4	7292	broad.mit.edu	37	chr1	173176198	173176198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcagatgtaggtgaAgcacaggagcagccccagtc	15	10	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:173176198A>G	uc001giw.2	-	1	274	c.118T>C	c.(118-120)TTC>CTC	p.F40L	TNFSF4_uc001giv.2_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	40	Helical; Signal-anchor for type II membrane protein; (Potential).				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			central_nervous_system(1)	1						ATGTAGGTGAAGCACAGGAGC	0.547													G	173176198	A	G	173176198	3	3	241	1	0	0	0	0	1	0	0	0	16307	72	3	3	445	3	TNFSF4	1	173176198	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	1865252	173176198	76074423	10	121441											
FAM5C	339479	broad.mit.edu	37	chr1	190068073	190068073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgttgcaggtgccgcagCgggtgcggttgtctggtgcg	20	9	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:190068073C>T	uc001gse.1	-	8	1608	c.1376G>A	c.(1375-1377)CGC>CAC	p.R459H	FAM5C_uc010pot.1_Missense_Mutation_p.R357H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	459						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GGTGCCGCAGCGGGTGCGGTT	0.617													T	190068073	C	T	190068073	3	4	241	1	0	0	0	0	1	0	0	0	5594	768	27	1	928	1	FAM5C	1	190068073	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	16891875	190068073	59182548	11	121442											
OR2M2	391194	broad.mit.edu	37	chr1	248344198	248344198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gactagagcattcatgaagaTcttaggaaagggcaagtctg	12	6	3	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:248344198T>A	uc010pzf.1	+	1	911	c.911T>A	c.(910-912)ATC>AAC	p.I304N		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	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)			TTCATGAAGATCTTAGGAAAG	0.413													A	248344198	T	A	248344198	3	1	241	1	0	0	0	0	1	0	0	0	11010	1435	50	5	913	5	OR2M2	1	248344198	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	58276125	248344198	906423	12	121443											
SNRNP200	23020	broad.mit.edu	37	chr2	96944340	96944340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgcctaggttcagaggCgccacgtccatctcgtcctc	9	15	3	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:96944340C>T	uc002svu.2	-	38	5519	c.5433G>A	c.(5431-5433)GCG>GCA	p.A1811A	SNRNP200_uc002svt.2_Silent_p.A421A|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1811						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GGTTCAGAGGCGCCACGTCCA	0.567													T	96944340	C	T	96944340	2	4	241	1	0	0	0	0	0	0	0	1	14852	755	27	1		1	SNRNP200	2	96944340	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08		96944340	146255033	13	121444											
VWA3B	200403	broad.mit.edu	37	chr2	98853145	98853145	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcccgcacagctccacCtatgttcccgtcctggacaa	8	17	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:98853145C>A	uc002syo.2	+	19	2889	c.2625C>A	c.(2623-2625)ACC>ACA	p.T875T	VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Silent_p.T394T|VWA3B_uc002sym.2_Silent_p.T875T|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.T532T|VWA3B_uc002syp.1_Silent_p.T267T|VWA3B_uc002syq.1_Silent_p.T151T|VWA3B_uc002syr.1_Silent_p.T192T|VWA3B_uc010fih.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	875										ovary(3)|large_intestine(2)|skin(1)	6						ACAGCTCCACCTATGTTCCCG	0.493													A	98853145	C	A	98853145	2	1	241	1	0	0	0	0	0	0	0	1	17238	668	24	5		5	VWA3B	2	98853145	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	1908805	98853145	144346228	14	121445											
SLC9A4	389015	broad.mit.edu	37	chr2	103130659	103130659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgaagcaagccatcgAgatggtggagactgggatac	15	6	0	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:103130659A>G	uc002tbz.3	+	8	2127	c.1670A>G	c.(1669-1671)GAG>GGG	p.E557G		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	557	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CAAGCCATCGAGATGGTGGAG	0.224													G	103130659	A	G	103130659	3	3	241	1	0	0	0	0	1	0	0	0	14716	304	11	3	1700	3	SLC9A4	2	103130659	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	4277514	103130659	140068714	15	121446											
TTN	7273	broad.mit.edu	37	chr2	179417608	179417608	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatttcattttctgcaagaaCtctgaagaagaatggagtct	8	6	4	4			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:179417608C>G	uc010zfg.1	-	284	82539	c.82315G>C	c.(82315-82317)GTT>CTT	p.V27439L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V21134L|TTN_uc010zfi.1_Missense_Mutation_p.V21067L|TTN_uc010zfj.1_Missense_Mutation_p.V20942L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28366							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCAAGAACTCTGAAGAAG	0.438													G	179417608	C	G	179417608	3	3	241	1	0	0	0	0	1	0	0	0	16732	565	20	5	18072	5	TTN	2	179417608	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	76286949	179417608	63781765	16	121447											
TTN	7273	broad.mit.edu	37	chr2	179454471	179454471	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcaatagggttaatagccaGaatgggagtttttgtttcga	12	4	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:179454471G>T	uc010zfg.1	-	253	54501	c.54277C>A	c.(54277-54279)CTG>ATG	p.L18093M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L11788M|TTN_uc010zfi.1_Missense_Mutation_p.L11721M|TTN_uc010zfj.1_Missense_Mutation_p.L11596M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19020							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATAGCCAGAATGGGAGTT	0.423													T	179454471	G	T	179454471	3	4	241	1	0	0	0	0	1	0	0	0	16732	933	33	5	46234	5	TTN	2	179454471	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	36863	179454471	63744902	17	121448											
IGFBP5	3488	broad.mit.edu	37	chr2	217559462	217559462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccggccccgcataggCggccagcagcaggaggaccg	17	15	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:217559462C>T	uc002vgj.3	-	1	811	c.37G>A	c.(37-39)GCC>ACC	p.A13T		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	13					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				0		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)		CCCGCATAGGCGGCCAGCAGC	0.677													T	217559462	C	T	217559462	3	4	241	1	0	0	0	0	1	0	0	0	7582	768	27	1	797	1	IGFBP5	2	217559462	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	38104991	217559462	25639911	18	121449											
SLC4A3	6508	broad.mit.edu	37	chr2	220500552	220500552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactcccagtgtgtggcCgctgtgctcttcatctactt	9	14	3	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:220500552C>T	uc002vmp.3	+	14	2399	c.2130C>T	c.(2128-2130)GCC>GCT	p.A710A	SLC4A3_uc002vmo.3_Silent_p.A737A|SLC4A3_uc010fwm.2_Silent_p.A260A|SLC4A3_uc010fwn.1_Silent_p.A219A	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	710	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		AGTGTGTGGCCGCTGTGCTCT	0.652													T	220500552	C	T	220500552	2	4	241	1	0	0	0	0	0	0	0	1	14655	639	23	1		1	SLC4A3	2	220500552	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	2941090	220500552	22698821	19	121450											
COL4A4	1286	broad.mit.edu	37	chr2	227953444	227953444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccagccagggagccccaaGtctcccttactcccctgcct	8	19	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:227953444G>T	uc010zlt.1	-	22	2202	c.1548C>A	c.(1546-1548)GAC>GAA	p.D516E		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	516	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		GGAGCCCCAAGTCTCCCTTAC	0.597													T	227953444	G	T	227953444	3	4	241	1	0	0	0	0	1	0	0	0	3693	1020	36	5	3632	5	COL4A4	2	227953444	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	7452892	227953444	15245929	20	121451											
CNTN6	27255	broad.mit.edu	37	chr3	1371510	1371510	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccagttaaaaaaaagTcttttgttcaagttggtggg	10	4	2	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:1371510T>G	uc003boz.2	+	11	1522	c.1255T>G	c.(1255-1257)TCT>GCT	p.S419A	CNTN6_uc011asj.1_Missense_Mutation_p.S347A|CNTN6_uc003bpa.2_Missense_Mutation_p.S419A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	419	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		TAAAAAAAAGTCTTTTGTTCA	0.383													G	1371510	T	G	1371510	3	3	241	1	0	0	0	0	1	0	0	0	3645	1667	58	5	1293	5	CNTN6	3	1371510	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08		1371510	196650920	21	121452											
LMCD1	29995	broad.mit.edu	37	chr3	8590452	8590452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagagcgaggccctcggcGtgggagaagtggccctcccg	16	12	0	2	rs150819156		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:8590452G>A	uc003bqq.2	+	4	700	c.586G>A	c.(586-588)GTG>ATG	p.V196M	LMCD1_uc011atd.1_Missense_Mutation_p.V123M|LMCD1_uc011ate.1_Missense_Mutation_p.V84M|LMCD1_uc011atf.1_Missense_Mutation_p.V123M	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	196	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGCCCTCGGCGTGGGAGAAGT	0.577													A	8590452	G	A	8590452	3	1	241	1	0	0	0	0	1	0	0	0	8844	1145	40	1	600	1	LMCD1	3	8590452	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	7218942	8590452	189431978	22	121453											
TGFBR2	7048	broad.mit.edu	37	chr3	30686363	30686363	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatgagcaactgcagcatCacctccatctgtgagaagcc	9	13	2	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:30686363C>T	uc003ceo.2	+	2	601	c.219C>T	c.(217-219)ATC>ATT	p.I73I	TGFBR2_uc003cen.2_Silent_p.I98I	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	73	Extracellular (Potential).		I -> V (in a colorectal cancer sample; somatic mutation).		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|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 I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.I73V(1)		pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						ACTGCAGCATCACCTCCATCT	0.413													T	30686363	C	T	30686363	2	4	241	1	0	0	0	0	0	0	0	1	15819	816	29	4		4	TGFBR2	3	30686363	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	22095911	30686363	167336067	23	121454											
USP4	7375	broad.mit.edu	37	chr3	49336032	49336032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagagagcctcgcacaggtCggacacagcccccatcagcg	13	15	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:49336032C>T	uc003cwq.2	-	12	1628	c.1549G>A	c.(1549-1551)GAC>AAC	p.D517N	USP4_uc003cwo.2_Missense_Mutation_p.D229N|USP4_uc003cwp.2_Missense_Mutation_p.D247N|USP4_uc003cwr.2_Missense_Mutation_p.D470N	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	517					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			ovary(2)|urinary_tract(1)|lung(1)	4		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)		TCGCACAGGTCGGACACAGCC	0.552													T	49336032	C	T	49336032	3	4	241	1	0	0	0	0	1	0	0	0	17068	884	31	1	1386	1	USP4	3	49336032	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	18649669	49336032	148686398	24	121455											
SMC4	10051	broad.mit.edu	37	chr3	160143863	160143863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttaaaacttttttgtagcGtttaatagagcaagaagaat	8	3	0	3	rs143540491		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:160143863G>A	uc003fdh.2	+	17	2593	c.2480G>A	c.(2479-2481)CGT>CAT	p.R827H	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.R802H|SMC4_uc003fdj.2_Missense_Mutation_p.R827H|SMC4_uc010hwd.2_Missense_Mutation_p.R827H|SMC4_uc003fdl.2_Missense_Mutation_p.R530H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	827	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTTGTAGCGTTTAATAGAG	0.244													A	160143863	G	A	160143863	3	1	241	1	0	0	0	0	1	0	0	0	14785	1159	40	1	2542	1	SMC4	3	160143863	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	110807831	160143863	37878567	25	121456											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	241	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	18808222	178952085	19070345	26	121457											
SDAD1	55153	broad.mit.edu	37	chr4	76882453	76882453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgttatctcctttataGcattgattctagaaaaagaa	7	6	2	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr4:76882453G>A	uc003hje.3	-	15	1309	c.1190C>T	c.(1189-1191)GCT>GTT	p.A397V	SDAD1_uc003hjf.3_Missense_Mutation_p.A300V|SDAD1_uc011cbr.1_Missense_Mutation_p.A360V	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	397					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCCTTTATAGCATTGATTCT	0.363													A	76882453	G	A	76882453	3	1	241	1	0	0	0	0	1	0	0	0	13950	971	34	2	905	2	SDAD1	4	76882453	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08		76882453	114271823	27	121458											
FAT4	79633	broad.mit.edu	37	chr4	126398337	126398337	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcagccaaatagagtTacagttggaggtatcagatc	11	6	2	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr4:126398337T>A	uc003ifj.3	+	13	12321	c.12321T>A	c.(12319-12321)GTT>GTA	p.V4107V	FAT4_uc011cgp.1_Silent_p.V2370V|FAT4_uc003ifi.1_Silent_p.V1585V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4107	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAAATAGAGTTACAGTTGGAG	0.338													A	126398337	T	A	126398337	2	1	241	1	0	0	0	0	0	0	0	1	5692	1741	61	5		5	FAT4	4	126398337	Silent	SNP	T	TCGA-FP-7916-01A-11D-2201-08	49515884	126398337	64755939	28	121459											
CDH9	1007	broad.mit.edu	37	chr5	26915959	26915959	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattttcatctataacaAatagactgccagccccatct	4	12	3	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:26915959A>T	uc003jgs.1	-	3	471	c.302T>A	c.(301-303)TTT>TAT	p.F101Y	CDH9_uc010iug.2_Missense_Mutation_p.F101Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	101	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						ATCTATAACAAATAGACTGCC	0.373													T	26915959	A	T	26915959	3	4	241	1	0	0	0	0	1	0	0	0	3117	14	1	5	2107	5	CDH9	5	26915959	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08		26915959	153999301	29	121460											
PCDHB1	29930	broad.mit.edu	37	chr5	140431196	140431196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctcgtttgtggccaaCgtagctaaggacctaggact	13	10	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:140431196C>T	uc003lik.1	+	1	218	c.141C>T	c.(139-141)AAC>AAT	p.N47N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	47	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGGCCAACGTAGCTAAGG	0.562													T	140431196	C	T	140431196	2	4	241	1	0	0	0	0	0	0	0	1	11534	535	19	1		1	PCDHB1	5	140431196	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	113515237	140431196	40484064	30	121461											
PCDHGB2	56103	broad.mit.edu	37	chr5	140739917	140739917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggttagcgcggagaAggaatatttcacagtaaacc	13	8	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:140739917A>C	uc003ljs.1	+	1	215	c.215A>C	c.(214-216)AAG>ACG	p.K72T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.K72T	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	72	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGGAGAAGGAATATTTC	0.547													C	140739917	A	C	140739917	3	2	241	1	0	0	0	0	1	0	0	0	11563	72	3	5	217	5	PCDHGB2	5	140739917	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	308721	140739917	40175343	31	121462											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741308	140741308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcacactgcaggcccgcGaccagggctcgcccgcgctc	12	19	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:140741308G>A	uc003ljs.1	+	1	1606	c.1606G>A	c.(1606-1608)GAC>AAC	p.D536N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.D536N|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	536	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCAGGGCTC	0.692													A	140741308	G	A	140741308	3	1	241	1	0	0	0	0	1	0	0	0	11563	1058	37	1	1608	1	PCDHGB2	5	140741308	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	1391	140741308	40173952	32	121463											
CYFIP2	26999	broad.mit.edu	37	chr5	156734811	156734811	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taatggatggaaatgtcagtAacatttacaaactggatgcc	9	6	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:156734811A>T	uc003lwq.2	+	11	976	c.838A>T	c.(838-840)AAC>TAC	p.N280Y	CYFIP2_uc011ddn.1_Missense_Mutation_p.N254Y|CYFIP2_uc011ddo.1_Missense_Mutation_p.N84Y|CYFIP2_uc003lwr.2_Missense_Mutation_p.N280Y|CYFIP2_uc003lws.2_Missense_Mutation_p.N280Y|CYFIP2_uc003lwt.2_Missense_Mutation_p.N158Y|CYFIP2_uc011ddp.1_Missense_Mutation_p.N14Y	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	280					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			AAATGTCAGTAACATTTACAA	0.428													T	156734811	A	T	156734811	3	4	241	1	0	0	0	0	1	0	0	0	4138	362	13	5	868	5	CYFIP2	5	156734811	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	15993503	156734811	24180449	33	121464											
EBF1	1879	broad.mit.edu	37	chr5	158267086	158267086	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcattctttaggcaatttTggttacatttgaggaaaaat	8	6	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:158267086T>G	uc010jip.2	-	7	889	c.587A>C	c.(586-588)CAA>CCA	p.Q196P	EBF1_uc011ddw.1_Missense_Mutation_p.Q63P|EBF1_uc011ddx.1_Missense_Mutation_p.Q196P|EBF1_uc003lxl.3_Missense_Mutation_p.Q173P	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	196					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	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)			TAGGCAATTTTGGTTACATTT	0.403			T	HMGA2	lipoma								G	158267086	T	G	158267086	3	3	241	1	0	0	0	0	1	0	0	0	4880	1812	63	5	1228	5	EBF1	5	158267086	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	1532275	158267086	22648174	34	121465											
DSP	1832	broad.mit.edu	37	chr6	7581033	7581033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagcaagaactgacacGcctgaggatcgactatgaaa	11	9	1	4			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:7581033G>A	uc003mxp.1	+	23	4889	c.4610G>A	c.(4609-4611)CGC>CAC	p.R1537H	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1537	Central fibrous rod domain.|Potential.		R -> C.		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAACTGACACGCCTGAGGATC	0.498													A	7581033	G	A	7581033	3	1	241	1	0	0	0	0	1	0	0	0	4781	1087	38	1	4700	1	DSP	6	7581033	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08		7581033	163534034	35	121466											
DNAH8	1769	broad.mit.edu	37	chr6	38890879	38890879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggaaaaagatgcaggccGcctccactctcatcgatggg	12	13	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:38890879G>A	uc003ooe.1	+	70	10657	c.10057G>A	c.(10057-10059)GCC>ACC	p.A3353T	uc003oof.1_RNA	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GATGCAGGCCGCCTCCACTCT	0.448													A	38890879	G	A	38890879	3	1	241	1	0	0	0	0	1	0	0	0	4607	1087	38	1	10327	1	DNAH8	6	38890879	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	31309846	38890879	132224188	36	121467											
DAAM2	23500	broad.mit.edu	37	chr6	39841029	39841029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtccacatcgacaccAagagtgcttcccagatgttt	8	14	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:39841029A>C	uc003oow.2	+	10	1216	c.1060A>C	c.(1060-1062)AAG>CAG	p.K354Q	DAAM2_uc010jxc.2_Missense_Mutation_p.K354Q|DAAM2_uc003oox.2_Missense_Mutation_p.K354Q	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	354	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CATCGACACCAAGAGTGCTTC	0.557													C	39841029	A	C	39841029	3	2	241	1	0	0	0	0	1	0	0	0	4216	131	5	5	1094	5	DAAM2	6	39841029	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	950150	39841029	131274038	37	121468											
FUT9	10690	broad.mit.edu	37	chr6	96651497	96651497	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcacttgtttaacctgactCtgacttaccgccgtgattca	7	12	2	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:96651497C>G	uc003pop.3	+	3	807	c.466C>G	c.(466-468)CTG>GTG	p.L156V		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	156	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		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)		TAACCTGACTCTGACTTACCG	0.458													G	96651497	C	G	96651497	3	3	241	1	0	0	0	0	1	0	0	0	6111	912	32	5	468	5	FUT9	6	96651497	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	56810468	96651497	74463570	38	121469											
GRM1	2911	broad.mit.edu	37	chr6	146755497	146755497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatcccggattttcacgcGgtgctggcaggccccggtgg	16	13	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:146755497G>A	uc010khw.1	+	9	3620	c.3150G>A	c.(3148-3150)GCG>GCA	p.A1050A	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1050	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATTTTCACGCGGTGCTGGCAG	0.667													A	146755497	G	A	146755497	2	1	241	1	0	0	0	0	0	0	0	1	6796	1103	39	1		1	GRM1	6	146755497	Silent	SNP	G	TCGA-FP-7916-01A-11D-2201-08	50104000	146755497	24359570	39	121470											
SOD2	6648	broad.mit.edu	37	chr6	160109172	160109172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacctttgggttctccaCcaccgttagggctgaggttt	10	12	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:160109172C>T	uc003qsg.2	-	3	483	c.329G>A	c.(328-330)GGT>GAT	p.G110D	SOD2_uc003qsh.2_Intron|SOD2_uc003qsi.1_Missense_Mutation_p.G110D|SOD2_uc011efu.1_Missense_Mutation_p.G110D|SOD2_uc011efv.1_Intron	NM_001024465	NP_001019636	P04179	SODM_HUMAN	manganese superoxide dismutase isoform A	110					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GGGTTCTCCACCACCGTTAGG	0.423													T	160109172	C	T	160109172	3	4	241	1	0	0	0	0	1	0	0	0	14921	507	18	4	351	4	SOD2	6	160109172	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	13353675	160109172	11005895	40	121471											
PACRG	135138	broad.mit.edu	37	chr6	163735873	163735873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagtgaactccggagacGgcattgactacagccagcag	11	13	0	3	rs143276239	by1000genomes	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:163735873G>A	uc003qua.2	+	7	969	c.745G>A	c.(745-747)GGC>AGC	p.G249S	PACRG_uc003qub.2_Missense_Mutation_p.G210S|PACRG_uc003quc.2_Missense_Mutation_p.G210S|LOC285796_uc011egh.1_Intron	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	249											0		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)		CTCCGGAGACGGCATTGACTA	0.493													A	163735873	G	A	163735873	3	1	241	1	0	0	0	0	1	0	0	0	11370	1116	39	1	767	1	PACRG	6	163735873	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	3626701	163735873	7379194	41	121472											
STK31	56164	broad.mit.edu	37	chr7	23749937	23749937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcactcttctagagcttcCgcaacggaaagtgtgaggtc	12	10	3	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:23749937C>T	uc003sws.3	+	1	100	c.33C>T	c.(31-33)TCC>TCT	p.S11S	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Silent_p.S11S|STK31_uc010kuq.2_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	11							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						CTAGAGCTTCCGCAACGGAAA	0.557													T	23749937	C	T	23749937	2	4	241	1	0	0	0	0	0	0	0	1	15295	639	23	1		1	STK31	7	23749937	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08		23749937	135388726	42	121473											
ZNF804B	219578	broad.mit.edu	37	chr7	88964364	88964364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgaccagcaaggtttccGgatgtggaaaccaaagatac	11	9	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:88964364G>A	uc011khi.1	+	4	2606	c.2068G>A	c.(2068-2070)GGA>AGA	p.G690R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	690						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAGGTTTCCGGATGTGGAAA	0.453										HNSCC(36;0.09)			A	88964364	G	A	88964364	3	1	241	1	0	0	0	0	1	0	0	0	18168	1117	39	1	2082	1	ZNF804B	7	88964364	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	65214427	88964364	70174299	43	121474											
REPIN1	29803	broad.mit.edu	37	chr7	150068855	150068855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccgccccggaggcccgGcccttcatatgcggcaactg	11	19	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:150068855G>A	uc010lpq.1	+	4	1014	c.525G>A	c.(523-525)CGG>CGA	p.R175R	REPIN1_uc003whd.2_Silent_p.R164R|REPIN1_uc010lpr.1_Silent_p.R232R|REPIN1_uc003whc.2_Silent_p.R175R|REPIN1_uc003whe.2_Silent_p.R175R	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	175					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGAGGCCCGGCCCTTCATAT	0.667													A	150068855	G	A	150068855	2	1	241	1	0	0	0	0	0	0	0	1	13227	1190	42	2		2	REPIN1	7	150068855	Silent	SNP	G	TCGA-FP-7916-01A-11D-2201-08	61104491	150068855	9069808	44	121475											
MLL3	58508	broad.mit.edu	37	chr7	151875049	151875049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaggcacaaggaagcGctcttgactcggcatggtac	14	10	1	2	rs150994342	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:151875049G>A	uc003wla.2	-	38	7708	c.7489C>T	c.(7489-7491)CGC>TGC	p.R2497C	MLL3_uc003wkz.2_Missense_Mutation_p.R1558C|MLL3_uc003wky.2_Missense_Mutation_p.R6C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2497	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACAAGGAAGCGCTCTTGACTC	0.363			N		medulloblastoma								A	151875049	G	A	151875049	3	1	241	1	0	0	0	0	1	0	0	0	9622	1087	38	1	7334	1	MLL3	7	151875049	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	1806194	151875049	7263614	45	121476											
CSMD1	64478	broad.mit.edu	37	chr8	4851918	4851918	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agaagcaggagcagcgactgGaatctcctccacgcagtcat	11	12	2	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:4851918G>C	uc011kwk.1	-	1	411	c.21C>G	c.(19-21)TTC>TTG	p.F7L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	7						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGCGACTGGAATCTCCTCC	0.622													C	4851918	G	C	4851918	3	2	241	1	0	0	0	0	1	0	0	0	3944	1165	41	5	10766	5	CSMD1	8	4851918	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08		4851918	141512104	46	121477											
DLC1	10395	broad.mit.edu	37	chr8	13357579	13357579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttctgatagctacagacAtgtcatcgtagtttaacaac	6	9	3	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:13357579A>G	uc003wwm.2	-	2	446	c.2T>C	c.(1-3)ATG>ACG	p.M1T	DLC1_uc003wwn.2_Missense_Mutation_p.M1T|DLC1_uc011kxy.1_Missense_Mutation_p.M1T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGCTACAGACATGTCATCGTA	0.388													G	13357579	A	G	13357579	3	3	241	1	0	0	0	0	1	0	0	0	4550	217	8	3	4737	3	DLC1	8	13357579	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	8505661	13357579	133006443	47	121478											
EPB49	2039	broad.mit.edu	37	chr8	21938951	21938953	+	In_Frame_Del	DEL	AAG	AAG	-													tgtggaagcggaatgagctcAagaagaaggcctctctcttc							TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:21938950_21938952CAAG>C	uc022asw.1	+	14	1232_1234	c.1194_1196CAAG>C	c.(1192-1197)ctcaag>ctCg	p.K401del	EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_In_Frame_Del_p.K379del|EPB49_uc022asy.1_In_Frame_Del_p.K354del	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	401	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GGAATGAGCTCAAGAAGAAGGCC	0.606													-	21938953	AAG	-	21938951	7	5	241	1	0	1	0	1	0	0	0	0	5159	131	5	0	1256	0	EPB49	8	21938951	In_Frame_Del	DEL	AAG	TCGA-FP-7916-01A-11D-2201-08	8581372	21938951	124425071	48	121479											
KCNU1	157855	broad.mit.edu	37	chr8	36698093	36698093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctttcctgaagttgcccGgtaagtgaagtgaaatactt	11	7	0	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:36698093G>A	uc010lvw.2	+	15	1718	c.1631G>A	c.(1630-1632)CGG>CAG	p.R544Q	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	544	Segment S8.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAAGTTGCCCGGTAAGTGAAG	0.299													A	36698093	G	A	36698093	3	1	241	1	0	0	0	0	1	0	0	0	8093	1130	39	1	1689	1	KCNU1	8	36698093	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	14759142	36698093	109665929	49	121480											
SNTG1	54212	broad.mit.edu	37	chr8	51617262	51617262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagtgacctcgcccagTgggaaagagccttccagaca	12	11	0	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:51617262T>G	uc010lxy.1	+	17	1512	c.1141T>G	c.(1141-1143)TGG>GGG	p.W381G	SNTG1_uc003xqs.1_Missense_Mutation_p.W381G|SNTG1_uc010lxz.1_Missense_Mutation_p.W381G|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	381	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		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)				CCTCGCCCAGTGGGAAAGAGC	0.557													G	51617262	T	G	51617262	3	3	241	1	0	0	0	0	1	0	0	0	14874	1696	59	5	1195	5	SNTG1	8	51617262	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	14919169	51617262	94746760	50	121481											
OSR2	116039	broad.mit.edu	37	chr8	99961494	99961494	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagggggccattgcccacgTcctcccagccctgcacaagg	12	17	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:99961494T>A	uc003yir.2	+	2	849	c.314T>A	c.(313-315)GTC>GAC	p.V105D	OSR2_uc010mbn.2_Missense_Mutation_p.V105D|OSR2_uc003yiq.2_Missense_Mutation_p.V105D|OSR2_uc011lgx.1_Missense_Mutation_p.V226D	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	105					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ATTGCCCACGTCCTCCCAGCC	0.652													A	99961494	T	A	99961494	3	1	241	1	0	0	0	0	1	0	0	0	11294	1667	58	5	316	5	OSR2	8	99961494	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	48344232	99961494	46402528	51	121482											
KCNQ3	3786	broad.mit.edu	37	chr8	133150173	133150173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaagcatgtcgagatgCccggcagaatactgctcaat	11	10	1	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:133150173C>T	uc003ytj.2	-	12	1884	c.1659G>A	c.(1657-1659)GGG>GGA	p.G553G	KCNQ3_uc010mdt.2_Silent_p.G553G	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	553					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCGAGATGCCCGGCAGAAT	0.463													T	133150173	C	T	133150173	2	4	241	1	0	0	0	0	0	0	0	1	8084	726	26	2		2	KCNQ3	8	133150173	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	33188679	133150173	13213849	52	121483											
CNTLN	54875	broad.mit.edu	37	chr9	17135365	17135365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaggcgatggtgacccGgacgcagctgctggaggaag	19	8	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:17135365G>A	uc003zmz.2	+	1	328	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	CNTLN_uc003zmx.3_Missense_Mutation_p.R101Q|CNTLN_uc003zmy.2_Missense_Mutation_p.R101Q|CNTLN_uc003zmw.1_Missense_Mutation_p.R101Q	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	101	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGGTGACCCGGACGCAGCTG	0.667													A	17135365	G	A	17135365	3	1	241	1	0	0	0	0	1	0	0	0	3639	1116	39	1	304	1	CNTLN	9	17135365	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08		17135365	124078066	53	121484											
CNTFR	1271	broad.mit.edu	37	chr9	34552722	34552722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggttcctcagtccagggcGtagcgtgggcggctacgctc	16	13	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:34552722G>A	uc003zup.1	-	8	1180	c.899C>T	c.(898-900)ACG>ATG	p.T300M	CNTFR_uc003zuq.1_Missense_Mutation_p.T300M	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	300	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGTCCAGGGCGTAGCGTGGGC	0.627													A	34552722	G	A	34552722	3	1	241	1	0	0	0	0	1	0	0	0	3638	1145	40	1	231	1	CNTFR	9	34552722	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	17417357	34552722	106660709	54	121485											
C9orf79	286234	broad.mit.edu	37	chr9	90501251	90501251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagcccccatccttcccGgggttgtcaccagccctgag	10	17	2	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:90501251G>A	uc004app.3	+	4	1884	c.1849G>A	c.(1849-1851)GGG>AGG	p.G617R	C9orf79_uc004apo.1_Missense_Mutation_p.G429R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	617						integral to membrane				ovary(3)	3						CATCCTTCCCGGGGTTGTCAC	0.627													A	90501251	G	A	90501251	3	1	241	1	0	0	0	0	1	0	0	0	2497	1116	39	1	1863	1	C9orf79	9	90501251	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	55948529	90501251	50712180	55	121486											
C9orf3	84909	broad.mit.edu	37	chr9	97563249	97563249	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcggctggatgttctcatCgtccctgccaactttccaag	8	14	2	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:97563249C>T	uc004ava.2	+	4	1464	c.1329C>T	c.(1327-1329)ATC>ATT	p.I443I	C9orf3_uc004aux.1_Silent_p.I443I|C9orf3_uc004auy.2_Silent_p.I443I|C9orf3_uc004auz.1_Silent_p.I443I	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	443					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATGTTCTCATCGTCCCTGCCA	0.522													T	97563249	C	T	97563249	2	4	241	1	0	0	0	0	0	0	0	1	2477	874	31	1		1	C9orf3	9	97563249	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	7061998	97563249	43650182	56	121487											
MUSK	4593	broad.mit.edu	37	chr9	113538210	113538210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttcccagcatgcattggGaccccacggcctgtgccaga	11	15	0	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:113538210G>A	uc004bey.2	+	9	1425	c.1327G>A	c.(1327-1329)GAC>AAC	p.D443N	MUSK_uc004bez.1_Missense_Mutation_p.D31N	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	443	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						CATGCATTGGGACCCCACGGC	0.488													A	113538210	G	A	113538210	3	1	241	1	0	0	0	0	1	0	0	0	9989	1174	41	4	1397	4	MUSK	9	113538210	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	15974961	113538210	27675221	57	121488											
RNF183	138065	broad.mit.edu	37	chr9	116060314	116060314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcacagcaggcggcgccGggctggagtcacaaggctga	18	11	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:116060314G>A	uc004bgz.2	-	2	269	c.151C>T	c.(151-153)CGG>TGG	p.R51W	RNF183_uc004bha.2_Missense_Mutation_p.R51W	NM_145051	NP_659488	Q96D59	RN183_HUMAN	ring finger protein 183	51	RING-type.					integral to membrane	zinc ion binding				0						AGGCGGCGCCGGGCTGGAGTC	0.627													A	116060314	G	A	116060314	3	1	241	1	0	0	0	0	1	0	0	0	13467	1115	39	1	431	1	RNF183	9	116060314	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	2522104	116060314	25153117	58	121489											
TTC16	158248	broad.mit.edu	37	chr9	130479638	130479638	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccagaggccagcagtgcttgGagcaggcagactgggagaca	16	10	0	3	rs139753825	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:130479638G>C	uc004brq.1	+	3	284	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'Flank|PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.E73Q|TTC16_uc004brr.1_Missense_Mutation_p.E66Q|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	73	TPR 1.						binding				0						GCAGTGCTTGGAGCAGGCAGA	0.662													C	130479638	G	C	130479638	3	2	241	1	0	0	0	0	1	0	0	0	16680	1175	41	5	227	5	TTC16	9	130479638	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	14419324	130479638	10733793	59	121490											
NRP1	8829	broad.mit.edu	37	chr10	33469182	33469182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaggacccccagggcaCtcatggctatgatggtgatg	14	11	1	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr10:33469182C>T	uc001iwx.3	-	17	3117	c.2594G>A	c.(2593-2595)AGT>AAT	p.S865N	NRP1_uc001iwv.3_Missense_Mutation_p.S848N|NRP1_uc009xlz.2_Missense_Mutation_p.S859N|NRP1_uc001iww.3_Missense_Mutation_p.S677N|NRP1_uc001iwy.3_Missense_Mutation_p.S858N	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	865	Helical; (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	CCCCAGGGCACTCATGGCTAT	0.537													T	33469182	C	T	33469182	3	4	241	1	0	0	0	0	1	0	0	0	10660	565	20	4	181	4	NRP1	10	33469182	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08		33469182	102065565	60	121491											
JMJD1C	221037	broad.mit.edu	37	chr10	64974716	64974717	+	Frame_Shift_Ins	INS	-	-	A													atttatttttgaagtattttINStatttttcaattcattctct							TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr10:64974716_64974717insA	uc001jmn.2	-	8	1510_1511	c.1210_1211insT	c.(1210-1212)AAAfs	p.K404fs	JMJD1C_uc001jml.2_Frame_Shift_Ins_p.K185fs|JMJD1C_uc001jmm.2_Frame_Shift_Ins_p.K116fs|JMJD1C_uc010qiq.1_Frame_Shift_Ins_p.K222fs|JMJD1C_uc009xpi.2_Frame_Shift_Ins_p.K222fs|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Frame_Shift_Ins_p.K116fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	404					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAAGTATTTTTATTTTTCAAT	0.347													A	64974717	-	A	64974716	7	5	241	1	0	1	1	0	0	0	0	0	7950	1841	64	0	6487	0	JMJD1C	10	64974716	Frame_Shift_Ins	INS	-	TCGA-FP-7916-01A-11D-2201-08	31505534	64974716	70560031	61	121492											
EBF3	253738	broad.mit.edu	37	chr10	131760472	131760472	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaggcgaacatacagaTcttgctctgttctgactcct	8	11	3	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr10:131760472T>A	uc001lki.1	-	4	433	c.374A>T	c.(373-375)GAT>GTT	p.D125V	EBF3_uc010qur.1_3'UTR	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	125					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		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)		AACATACAGATCTTGCTCTGT	0.493													A	131760472	T	A	131760472	3	1	241	1	0	0	0	0	1	0	0	0	4882	1435	50	5	1333	5	EBF3	10	131760472	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	66785756	131760472	3774275	62	121493											
RBMXL2	27288	broad.mit.edu	37	chr11	7110411	7110411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcaacctcgaaaccgaCgagaaagccctcgaagccga	10	15	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:7110411C>T	uc001mfc.2	+	1	247	c.60C>T	c.(58-60)GAC>GAT	p.D20D		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	20	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGAAACCGACGAGAAAGCCC	0.607													T	7110411	C	T	7110411	2	4	241	1	0	0	0	0	0	0	0	1	13154	535	19	1		1	RBMXL2	11	7110411	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08		7110411	127896105	63	121494											
SYT9	143425	broad.mit.edu	37	chr11	7334764	7334764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcattggataatgatgaCgggagacggagtaacagcaa	14	5	1	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:7334764C>T	uc001mfe.2	+	3	873	c.636C>T	c.(634-636)GAC>GAT	p.D212D	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	212	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATAATGATGACGGGAGACGGA	0.403													T	7334764	C	T	7334764	2	4	241	1	0	0	0	0	0	0	0	1	15478	535	19	1		1	SYT9	11	7334764	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	224353	7334764	127671752	64	121495											
PAX6	5080	broad.mit.edu	37	chr11	31822268	31822268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgccctggcaccgaagtcCccggataccaaccagggcgg	13	15	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:31822268C>A	uc001mtd.3	-	6	1384	c.494G>T	c.(493-495)GGG>GTG	p.G165V	PAX6_uc001mte.3_Missense_Mutation_p.G165V|PAX6_uc001mtg.3_Missense_Mutation_p.G179V|PAX6_uc001mtf.3_Missense_Mutation_p.G165V|PAX6_uc001mth.3_Missense_Mutation_p.G165V|PAX6_uc009yjr.2_Missense_Mutation_p.G165V	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	165	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CACCGAAGTCCCCGGATACCA	0.572									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				A	31822268	C	A	31822268	3	1	241	1	0	0	0	0	1	0	0	0	11483	623	22	5	802	5	PAX6	11	31822268	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	24487504	31822268	103184248	65	121496											
F2	2147	broad.mit.edu	37	chr11	46750282	46750282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccaggtacaactggcGggagaacctggaccgggaca	13	14	0	1	rs143498218		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:46750282G>A	uc001ndf.3	+	11	1410	c.1367G>A	c.(1366-1368)CGG>CAG	p.R456Q	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	456	Peptidase S1.				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			ovary(3)	3		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)	TACAACTGGCGGGAGAACCTG	0.517													A	46750282	G	A	46750282	3	1	241	1	0	0	0	0	1	0	0	0	5342	1116	39	1	1409	1	F2	11	46750282	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	14928014	46750282	88256234	66	121497											
C11orf66	220004	broad.mit.edu	37	chr11	61254513	61254513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacgttgccctgcttggcCgggagactgtggggaaaaag	15	9	0	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:61254513C>T	uc001nru.1	+	10	1053	c.928C>T	c.(928-930)CGG>TGG	p.R310W	C11orf66_uc009ynq.1_Missense_Mutation_p.R290W	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	310										ovary(1)	1						CCTGCTTGGCCGGGAGACTGT	0.582													T	61254513	C	T	61254513	3	4	241	1	0	0	0	0	1	0	0	0	1656	643	23	1	962	1	C11orf66	11	61254513	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	14504231	61254513	73752003	67	121498											
MARK2	2011	broad.mit.edu	37	chr11	63671514	63671514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgccgcagtctctgCggcccggccccgccagcacc	11	20	2	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:63671514C>T	uc001nxw.2	+	15	2150	c.1571C>T	c.(1570-1572)GCG>GTG	p.A524V	MARK2_uc001nxx.2_Intron|MARK2_uc001nxy.2_Intron|MARK2_uc001nxv.3_Intron|MARK2_uc001nxz.3_Missense_Mutation_p.A490V|MARK2_uc009yoy.2_Intron	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	524					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			stomach(1)|ovary(1)|lung(1)	3						GCAGTCTCTGCGGCCCGGCCC	0.662													T	63671514	C	T	63671514	3	4	241	1	0	0	0	0	1	0	0	0	9313	768	27	1	1629	1	MARK2	11	63671514	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	2417001	63671514	71335002	68	121499											
KCNK7	10089	broad.mit.edu	37	chr11	65361001	65361001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgcaggctgcggccgcGgccgggcagcaagtcctcca	18	14	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:65361001G>A	uc001oes.2	-	2	888	c.664C>T	c.(664-666)CGC>TGC	p.R222C	KCNK7_uc001oeq.2_Missense_Mutation_p.R222C|KCNK7_uc001oer.2_Missense_Mutation_p.R222C|KCNK7_uc001oeu.2_Missense_Mutation_p.R222C	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	222						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CTGCGGCCGCGGCCGGGCAGC	0.657													A	65361001	G	A	65361001	3	1	241	1	0	0	0	0	1	0	0	0	8071	1116	39	1	368	1	KCNK7	11	65361001	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	1689487	65361001	69645515	69	121500											
RSF1	51773	broad.mit.edu	37	chr11	77378083	77378083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccattggaggctaggcttGcactggctgtgctgttgtcc	13	11	0	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:77378083G>T	uc001oyn.2	-	16	4325	c.4205C>A	c.(4204-4206)GCA>GAA	p.A1402E	RSF1_uc001oym.2_Missense_Mutation_p.A1150E	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1402					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			ovary(2)|central_nervous_system(2)	4	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)			GGCTAGGCTTGCACTGGCTGT	0.527													T	77378083	G	T	77378083	3	4	241	1	0	0	0	0	1	0	0	0	13699	1319	46	5	124	5	RSF1	11	77378083	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	12017082	77378083	57628433	70	121501											
OR10G8	219869	broad.mit.edu	37	chr11	123901046	123901046	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcacagagcctttcagacCtgtgcctcccactgtatcgt	8	14	1	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:123901046C>A	uc001pzp.1	+	1	717	c.717C>A	c.(715-717)ACC>ACA	p.T239T		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		CCTTTCAGACCTGTGCCTCCC	0.562													A	123901046	C	A	123901046	2	1	241	1	0	0	0	0	0	0	0	1	10903	668	24	5		5	OR10G8	11	123901046	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	46522963	123901046	11105470	71	121502											
SLC2A13	114134	broad.mit.edu	37	chr12	40265616	40265616	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgctaaactaccaaaGgtaagctttctgcggcccac	7	14	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:40265616G>T	uc010skm.1	-	5	1233	c.1182C>A	c.(1180-1182)ACC>ACA	p.T394T	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.T41T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	394	Helical; Name=9; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				AACTACCAAAGGTAAGCTTTC	0.383										HNSCC(50;0.14)			T	40265616	G	T	40265616	2	4	241	1	0	0	0	0	0	0	0	1	14542	987	35	5		5	SLC2A13	12	40265616	Silent	SNP	G	TCGA-FP-7916-01A-11D-2201-08		40265616	93586279	72	121503											
RDH16	8608	broad.mit.edu	37	chr12	57351150	57351150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtcacagcccgtgatgaAcacatacttatctctcaggt	8	11	3	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:57351150A>G	uc001smi.3	-	1	269	c.97T>C	c.(97-99)TTC>CTC	p.F33L	RDH16_uc009zpa.2_5'UTR|RDH16_uc010sqx.1_RNA	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	33	NAD (By similarity).|Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						CCCGTGATGAACACATACTTA	0.587													G	57351150	A	G	57351150	3	3	241	1	0	0	0	0	1	0	0	0	13194	43	2	3	872	3	RDH16	12	57351150	Missense_Mutation	SNP	A	TCGA-FP-7916-01A-11D-2201-08	17085534	57351150	76500745	73	121504											
NAV3	89795	broad.mit.edu	37	chr12	78400619	78400619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtctgaatagtggtgGctcaacaaatagcagtccca	11	9	2	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:78400619G>T	uc001syp.2	+	8	1474	c.1301G>T	c.(1300-1302)GGC>GTC	p.G434V	NAV3_uc001syo.2_Missense_Mutation_p.G434V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	434						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AATAGTGGTGGCTCAACAAAT	0.453										HNSCC(70;0.22)			T	78400619	G	T	78400619	3	4	241	1	0	0	0	0	1	0	0	0	10185	1203	42	5	1331	5	NAV3	12	78400619	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	21049469	78400619	55451276	74	121505											
DCN	1634	broad.mit.edu	37	chr12	91558423	91558423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtctccatctttgatttCggttattttgttgttttgca	7	6	2	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:91558423C>T	uc001tbs.2	-	2	377	c.283G>A	c.(283-285)GAA>AAA	p.E95K	DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Missense_Mutation_p.E95K|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.E95K|DCN_uc001tbu.2_Missense_Mutation_p.E95K	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	95	LRR 2.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TCTTTGATTTCGGTTATTTTG	0.373													T	91558423	C	T	91558423	3	4	241	1	0	0	0	0	1	0	0	0	4297	893	31	1	820	1	DCN	12	91558423	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	13157804	91558423	42293472	75	121506											
SACS	26278	broad.mit.edu	37	chr13	23914670	23914670	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgatcaggacaagcaccGacctgtaaggcttcaatttt	8	10	3	1	rs143287019	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr13:23914670G>A	uc001uon.2	-	10	3934	c.3345C>T	c.(3343-3345)GTC>GTT	p.V1115V	SACS_uc001uoo.2_Silent_p.V968V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1115					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GACAAGCACCGACCTGTAAGG	0.378													A	23914670	G	A	23914670	2	1	241	1	0	0	0	0	0	0	0	1	13804	1045	37	1		1	SACS	13	23914670	Silent	SNP	G	TCGA-FP-7916-01A-11D-2201-08		23914670	91255208	76	121507											
LNX2	222484	broad.mit.edu	37	chr13	28143217	28143217	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgtcaaggccaggctcctCactccatgtggaaagagacg	12	11	2	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr13:28143217C>T	uc001url.3	-	3	913	c.604G>A	c.(604-606)GAG>AAG	p.E202K	LNX2_uc001urm.1_Missense_Mutation_p.E202K	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	202							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		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)		CCAGGCTCCTCACTCCATGTG	0.527													T	28143217	C	T	28143217	3	4	241	1	0	0	0	0	1	0	0	0	8866	835	29	4	1500	4	LNX2	13	28143217	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	4228547	28143217	87026661	77	121508											
SIX6	4990	broad.mit.edu	37	chr14	60976612	60976612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctcgcccaggcaaccGgactgacccctacgcaggtg	13	15	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr14:60976612G>A	uc001xfa.3	+	1	675	c.496G>A	c.(496-498)GGA>AGA	p.G166R		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	166	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CCAGGCAACCGGACTGACCCC	0.617													A	60976612	G	A	60976612	3	1	241	1	0	0	0	0	1	0	0	0	14351	1117	39	1	498	1	SIX6	14	60976612	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08		60976612	46372928	78	121509											
FLRT2	23768	broad.mit.edu	37	chr14	86089507	86089507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcttgatcgggggcgCggtgatatttgtgctggtgg	21	6	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr14:86089507C>T	uc001xvr.2	+	2	2416	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	FLRT2_uc010atd.2_Missense_Mutation_p.A550V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550	Helical; (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCGGGGGCGCGGTGATATTT	0.587													T	86089507	C	T	86089507	3	4	241	1	0	0	0	0	1	0	0	0	5939	768	27	1	1651	1	FLRT2	14	86089507	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	25112895	86089507	21260033	79	121510											
RHOT2	89941	broad.mit.edu	37	chr16	722946	722946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaccattacatggacgggCagaccccctgcctctttgtc	9	15	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:722946C>A	uc002cip.2	+	18	1613	c.1546C>A	c.(1546-1548)CAG>AAG	p.Q516K	RHOT2_uc002ciq.2_Missense_Mutation_p.Q409K|RHOT2_uc010bqy.2_Missense_Mutation_p.Q295K|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	516	Miro 2.|Mitochondrial intermembrane (Potential).				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			pancreas(1)	1		Hepatocellular(780;0.0218)				CATGGACGGGCAGACCCCCTG	0.652													A	722946	C	A	722946	3	1	241	1	0	0	0	0	1	0	0	0	13344	711	25	5	1616	5	RHOT2	16	722946	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08		722946	89631807	80	121511											
SYT17	51760	broad.mit.edu	37	chr16	19191722	19191722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcctataggatggccagCcggagcagtgacaaggatgg	14	10	0	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:19191722C>A	uc002dfw.2	+	4	523	c.192C>A	c.(190-192)AGC>AGA	p.S64R	SYT17_uc002dfx.2_Missense_Mutation_p.S3R|SYT17_uc002dfy.2_Missense_Mutation_p.S60R|SYT17_uc002dfv.1_Missense_Mutation_p.S3R	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	64						membrane|synaptic vesicle	transporter activity			ovary(1)	1						GGATGGCCAGCCGGAGCAGTG	0.597											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	19191722	C	A	19191722	3	1	241	1	0	0	0	0	1	0	0	0	15470	738	26	5	206	5	SYT17	16	19191722	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	18468776	19191722	71163031	81	121512											
GPR139	124274	broad.mit.edu	37	chr16	20043149	20043149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccggcgagatccaggggcTacttgttatggaaaagttat	13	7	0	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:20043149T>C	uc002dgu.1	-	2	1132	c.970A>G	c.(970-972)AGC>GGC	p.S324G	GPR139_uc010vaw.1_Missense_Mutation_p.S231G	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	324	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						ATCCAGGGGCTACTTGTTATG	0.483													C	20043149	T	C	20043149	3	2	241	1	0	0	0	0	1	0	0	0	6648	1522	53	3	95	3	GPR139	16	20043149	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08	851427	20043149	70311604	82	121513											
GPR114	221188	broad.mit.edu	37	chr16	57608778	57608778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggtcatgggctacggCggcctcacgtccctcttcaa	11	15	4	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:57608778C>T	uc002elx.3	+	11	1345	c.1260C>T	c.(1258-1260)GGC>GGT	p.G420G	GPR114_uc010vhr.1_Missense_Mutation_p.A381V|GPR114_uc002ely.2_Silent_p.G420G	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	420	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						TGGGCTACGGCGGCCTCACGT	0.701													T	57608778	C	T	57608778	2	4	241	1	0	0	0	0	0	0	0	1	6631	755	27	1		1	GPR114	16	57608778	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	37565629	57608778	32745975	83	121514											
CNOT1	23019	broad.mit.edu	37	chr16	58554928	58554928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcagcactgtgcgacCgactggaataacctgaagga	11	12	0	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:58554928C>T	uc002env.2	-	49	7358	c.7065G>A	c.(7063-7065)TCG>TCA	p.S2355S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.S2350S|CNOT1_uc002ent.2_Silent_p.S293S|CNOT1_uc010vik.1_Silent_p.S1312S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2355					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTGTGCGACCGACTGGAATA	0.478													T	58554928	C	T	58554928	2	4	241	1	0	0	0	0	0	0	0	1	3617	639	23	1		1	CNOT1	16	58554928	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	946150	58554928	31799825	84	121515											
NECAB2	54550	broad.mit.edu	37	chr16	84005763	84005763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttctgcagattttccGccgtgcggacaaaaatggtg	10	10	2	1	rs150219439		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:84005763G>A	uc002fhd.2	+	2	226	c.209G>A	c.(208-210)CGC>CAC	p.R70H	NECAB2_uc002fhe.2_5'UTR	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	70	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						CAGATTTTCCGCCGTGCGGAC	0.592													A	84005763	G	A	84005763	3	1	241	1	0	0	0	0	1	0	0	0	10305	1087	38	1	215	1	NECAB2	16	84005763	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	25450835	84005763	6348990	85	121516											
CTNS	1497	broad.mit.edu	37	chr17	3552213	3552213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatattactatccttgaGctccccgatgaagtaagtaa	6	8	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:3552213G>A	uc002fwb.2	+	5	806	c.213G>A	c.(211-213)GAG>GAA	p.E71E	CTNS_uc002fwa.2_Silent_p.E71E|CTNS_uc010ckj.2_Silent_p.E71E|CTNS_uc010vrv.1_Intron|CTNS_uc010vrw.1_Intron	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	71	Lumenal (Potential).		Missing (in CTNSJAN).		ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CTATCCTTGAGCTCCCCGATG	0.418													A	3552213	G	A	3552213	2	1	241	1	0	0	0	0	0	0	0	1	4021	962	34	2		2	CTNS	17	3552213	Silent	SNP	G	TCGA-FP-7916-01A-11D-2201-08		3552213	77642997	86	121517											
DNAH2	146754	broad.mit.edu	37	chr17	7735984	7735984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgggccagccgggccCggcctcctgtgatcttctgg	15	14	2	1	rs145079158		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:7735984C>T	uc002giu.1	+	82	12828	c.12814C>T	c.(12814-12816)CGG>TGG	p.R4272W		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4272					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGCCGGGCCCGGCCTCCTGT	0.587													T	7735984	C	T	7735984	3	4	241	1	0	0	0	0	1	0	0	0	4602	643	23	1	13140	1	DNAH2	17	7735984	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	4183771	7735984	73459226	87	121518											
CYTSB	92521	broad.mit.edu	37	chr17	20108520	20108520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaagaaaaccaccatagCactgcagaagaactacaggc	9	10	0	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:20108520C>T	uc002gwq.2	+	4	1303	c.1158C>T	c.(1156-1158)AGC>AGT	p.S386S	CYTSB_uc010cqx.2_Silent_p.S386S|CYTSB_uc002gwr.2_Silent_p.S386S|CYTSB_uc002gws.2_Silent_p.S386S|CYTSB_uc002gwv.2_Silent_p.S305S|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Silent_p.S162S|CYTSB_uc002gwt.2_Silent_p.S305S|CYTSB_uc002gwu.2_Silent_p.S305S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	386						nucleus					0						ACCACCATAGCACTGCAGAAG	0.438													T	20108520	C	T	20108520	2	4	241	1	0	0	0	0	0	0	0	1	4210	709	25	2		2	CYTSB	17	20108520	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	12372536	20108520	61086690	88	121519											
MPP2	4355	broad.mit.edu	37	chr17	41955298	41955298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtcaaagtagtgcccGtagccccgctggatgcggct	14	12	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:41955298G>A	uc010wip.1	-	13	1728	c.1671C>T	c.(1669-1671)TAC>TAT	p.Y557Y	MPP2_uc002ien.1_Silent_p.Y529Y|MPP2_uc010wim.1_Silent_p.Y501Y|MPP2_uc002ieo.1_Silent_p.Y512Y|MPP2_uc010win.1_Silent_p.Y373Y|MPP2_uc010wio.1_Silent_p.Y501Y	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	536	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGTAGTGCCCGTAGCCCCGCT	0.627													A	41955298	G	A	41955298	2	1	241	1	0	0	0	0	0	0	0	1	9734	1140	40	1		1	MPP2	17	41955298	Silent	SNP	G	TCGA-FP-7916-01A-11D-2201-08	21846778	41955298	39239912	89	121520											
TMEM100	55273	broad.mit.edu	37	chr17	53798136	53798136	+	Frame_Shift_Del	DEL	A	A	-													acaaggcactggaggctagtAaaaaaagtccagatgacaga							TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:53798136delA	uc002iuj.3	-	2	607	c.296delT	c.(295-297)TTAfs	p.L99fs	TMEM100_uc002iuk.3_Frame_Shift_Del_p.L99fs	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	99	Helical; (Potential).					integral to membrane					0						GGAGGCTAGTAAAAAAAGTCC	0.502													-	53798136	A	-	53798136	7	5	241	1	0	1	0	1	0	0	0	0	16012	372	13	0	112	0	TMEM100	17	53798136	Frame_Shift_Del	DEL	A	TCGA-FP-7916-01A-11D-2201-08	11842838	53798136	27397074	90	121521											
ZNF626	199777	broad.mit.edu	37	chr19	20807836	20807836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcacatttgtagggttTcttttccgtatgaattatct	6	7	4	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:20807836T>C	uc002npb.1	-	4	997	c.847A>G	c.(847-849)AAA>GAA	p.K283E	ZNF626_uc002npc.1_Missense_Mutation_p.K207E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTGTAGGGTTTCTTTTCCGTA	0.383													C	20807836	T	C	20807836	3	2	241	1	0	0	0	0	1	0	0	0	18047	1792	62	3	743	3	ZNF626	19	20807836	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08		20807836	38321147	91	121522											
TBCB	1155	broad.mit.edu	37	chr19	36616392	36616392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctactggattggtgtccGctatgatgagccactgggga	15	8	0	2			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:36616392G>A	uc002odg.1	+	5	1162	c.587G>A	c.(586-588)CGC>CAC	p.R196H	TBCB_uc002odh.1_Missense_Mutation_p.R177H	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	196	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATTGGTGTCCGCTATGATGAG	0.473													A	36616392	G	A	36616392	3	1	241	1	0	0	0	0	1	0	0	0	15627	1087	38	1	605	1	TBCB	19	36616392	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	15808556	36616392	22512591	92	121523											
CAPN12	147968	broad.mit.edu	37	chr19	39228953	39228953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaccagcagggcatcgcGgcactcggtggggagtgtgt	16	10	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:39228953G>A	uc002ojd.1	-	8	1234	c.925C>T	c.(925-927)CGC>TGC	p.R309C	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	309	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGGGCATCGCGGCACTCGGTG	0.657													A	39228953	G	A	39228953	3	1	241	1	0	0	0	0	1	0	0	0	2625	1116	39	1	1290	1	CAPN12	19	39228953	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	2612561	39228953	19900030	93	121524											
LRRC4B	94030	broad.mit.edu	37	chr19	51021480	51021480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcctctccgggctgcGtctccagggtctccacggtc	13	17	3	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:51021480G>A	uc002pss.2	-	3	1627	c.1490C>T	c.(1489-1491)ACG>ATG	p.T497M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	497	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCCGGGCTGCGTCTCCAGGGT	0.502													A	51021480	G	A	51021480	3	1	241	1	0	0	0	0	1	0	0	0	9007	1145	40	1	655	1	LRRC4B	19	51021480	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	11792527	51021480	8107503	94	121525											
NLRP12	91662	broad.mit.edu	37	chr19	54301528	54301528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtctgcaggcgggatgttGcagcccctcagccagcaacc	13	14	2	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:54301528G>T	uc002qch.3	-	8	3116	c.2896C>A	c.(2896-2898)CAA>AAA	p.Q966K	NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Missense_Mutation_p.Q967K|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	966					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			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGGGATGTTGCAGCCCCTCA	0.597													T	54301528	G	T	54301528	3	4	241	1	0	0	0	0	1	0	0	0	10474	1328	46	5	301	5	NLRP12	19	54301528	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	3280048	54301528	4827455	95	121526											
ZNF446	55663	broad.mit.edu	37	chr19	58991757	58991757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcgagcagtgtggccgCggcttcgactggaagtcagt	16	10	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:58991757C>T	uc002qsz.2	+	7	1134	c.1017C>T	c.(1015-1017)CGC>CGT	p.R339R	ZNF446_uc002qta.2_Missense_Mutation_p.A311V|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	339	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		AGTGTGGCCGCGGCTTCGACT	0.662													T	58991757	C	T	58991757	2	4	241	1	0	0	0	0	0	0	0	1	17916	755	27	1		1	ZNF446	19	58991757	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	4690229	58991757	137226	96	121527											
SLC9A8	23315	broad.mit.edu	37	chr20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactctcactggcttaattTctgcattaatatccttttaa	4	10	2	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr20:48479596T>G	uc002xuv.1	+	9	1054	c.844T>G	c.(844-846)TCT>GCT	p.S282A	SLC9A8_uc010zym.1_Intron|SLC9A8_uc010gic.2_5'Flank|SLC9A8_uc010gid.2_5'Flank|SLC9A8_uc010zyj.1_Missense_Mutation_p.S298A|SLC9A8_uc010zyk.1_3'UTR|SLC9A8_uc010zyl.1_3'UTR|SLC9A8_uc010gib.1_3'UTR	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	282	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418													G	48479596	T	G	48479596	3	3	241	1	0	0	0	0	1	0	0	0	14720	1783	62	5	878	5	SLC9A8	20	48479596	Missense_Mutation	SNP	T	TCGA-FP-7916-01A-11D-2201-08		48479596	14545924	97	121528											
KCNG1	3755	broad.mit.edu	37	chr20	49620778	49620778	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggccatgagcaggatgccgCtcaggatgctgctcagggcc	15	12	2	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr20:49620778C>G	uc002xwa.3	-	3	1635	c.1340G>C	c.(1339-1341)AGC>ACC	p.S447T		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	447	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CAGGATGCCGCTCAGGATGCT	0.622													G	49620778	C	G	49620778	3	3	241	1	0	0	0	0	1	0	0	0	8027	797	28	5	205	5	KCNG1	20	49620778	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	1141182	49620778	13404742	98	121529											
ZNF831	128611	broad.mit.edu	37	chr20	57766245	57766245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactgtgttcctgaaggcCctgcccatcccactgtacca	7	18	0	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr20:57766245C>T	uc002yan.2	+	1	171	c.171C>T	c.(169-171)GCC>GCT	p.A57A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	57	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TCCTGAAGGCCCTGCCCATCC	0.711													T	57766245	C	T	57766245	2	4	241	1	0	0	0	0	0	0	0	1	18182	610	22	4		4	ZNF831	20	57766245	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	8145467	57766245	5259275	99	121530											
KCNJ15	3772	broad.mit.edu	37	chr21	39671579	39671579	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acaaccattggctatggagtCcgttccatcacagaggaatg	10	10	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr21:39671579C>A	uc002ywv.2	+	4	698	c.396C>A	c.(394-396)GTC>GTA	p.V132V	KCNJ15_uc002yww.2_Silent_p.V132V|KCNJ15_uc002ywx.2_Silent_p.V132V	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	132	Selectivity filter (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						GCTATGGAGTCCGTTCCATCA	0.498													A	39671579	C	A	39671579	2	1	241	1	0	0	0	0	0	0	0	1	8049	842	30	5		5	KCNJ15	21	39671579	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08		39671579	8458316	100	121531											
UBASH3A	53347	broad.mit.edu	37	chr21	43857605	43857605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactattttccaggggacgcGctactggacagtggtatcag	12	10	1	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr21:43857605G>A	uc002zbe.2	+	11	1437	c.1401G>A	c.(1399-1401)GCG>GCA	p.A467A	UBASH3A_uc002zbf.2_Silent_p.A429A|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Silent_p.A429A	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	467	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						CAGGGGACGCGCTACTGGACA	0.488													A	43857605	G	A	43857605	2	1	241	1	0	0	0	0	0	0	0	1	16836	1074	38	1		1	UBASH3A	21	43857605	Silent	SNP	G	TCGA-FP-7916-01A-11D-2201-08	4186026	43857605	4272290	101	121532											
TRIOBP	11078	broad.mit.edu	37	chr22	38121801	38121801	+	Frame_Shift_Del	DEL	A	A	-													cgtcctcgcccccccgccacAcccaatttgaccccttcccc							TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr22:38121800_38121800CA>C	uc003atr.3	+	6	3508	c.3237_3237CA>C	c.(3235-3237)cacfs	p.H1079fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.H907fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.H1079fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.H907fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1079					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin 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)					CCCCCCGCCACACCCAATTTG	0.637													-	38121801	A	-	38121801	7	5	241	1	0	1	0	1	0	0	0	0	16550	159	6	0	3256	0	TRIOBP	22	38121801	Frame_Shift_Del	DEL	A	TCGA-FP-7916-01A-11D-2201-08		38121801	13182765	102	121533											
CACNA1I	8911	broad.mit.edu	37	chr22	40057308	40057308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgagctatgaccagcGctccctggtgagtccttgtg	14	10	0	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr22:40057308G>A	uc003ayc.2	+	16	2894	c.2894G>A	c.(2893-2895)CGC>CAC	p.R965H	CACNA1I_uc003ayd.2_Missense_Mutation_p.R930H|CACNA1I_uc003aye.2_Missense_Mutation_p.R880H|CACNA1I_uc003ayf.2_Missense_Mutation_p.R845H	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	965	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TATGACCAGCGCTCCCTGGTG	0.642													A	40057308	G	A	40057308	3	1	241	1	0	0	0	0	1	0	0	0	2546	1087	38	1	2956	1	CACNA1I	22	40057308	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	1935507	40057308	11247258	103	121534											
DMD	1756	broad.mit.edu	37	chrX	32360399	32360399	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcaattcccgatcaatttCctattgagcaaaaccaatac	4	12	1	1			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:32360399C>A	uc004dda.1	-	41	5984	c.5740G>T	c.(5740-5742)GAA>TAA	p.E1914*	DMD_uc004dcw.2_Nonsense_Mutation_p.E570*|DMD_uc004dcx.2_Nonsense_Mutation_p.E573*|DMD_uc004dcz.2_Nonsense_Mutation_p.E1791*|DMD_uc004dcy.1_Nonsense_Mutation_p.E1910*|DMD_uc004ddb.1_Nonsense_Mutation_p.E1906*|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1914	Spectrin 13.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				CGATCAATTTCCTATTGAGCA	0.493													A	32360399	C	A	32360399	4	1	241	1	0	0	0	0	0	1	0	0	4580	869	30	5	5621	5	DMD	23	32360399	Nonsense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08		32360399	122910161	104	121535											
BMP15	9210	broad.mit.edu	37	chrX	50659159	50659159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatactcataaaagcattcGgaaggctaaatttcttccca	6	9	2	1	rs145017754	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:50659159G>A	uc011mnw.1	+	2	731	c.731G>A	c.(730-732)CGG>CAG	p.R244Q		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	244					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)					AAAAGCATTCGGAAGGCTAAA	0.458													A	50659159	G	A	50659159	3	1	241	1	0	0	0	0	1	0	0	0	1458	1116	39	1	737	1	BMP15	23	50659159	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	18298760	50659159	104611401	105	121536											
RPS6KA6	27330	broad.mit.edu	37	chrX	83411138	83411138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaaactgtgcaggatctGctttctcatagccttcctta	6	12	3	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:83411138G>T	uc004eej.1	-	3	280	c.203C>A	c.(202-204)GCA>GAA	p.A68E	RPS6KA6_uc011mqt.1_Missense_Mutation_p.A68E|RPS6KA6_uc011mqu.1_5'UTR|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	68					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TGCAGGATCTGCTTTCTCATA	0.358													T	83411138	G	T	83411138	3	4	241	1	0	0	0	0	1	0	0	0	13655	1319	46	5	2114	5	RPS6KA6	23	83411138	Missense_Mutation	SNP	G	TCGA-FP-7916-01A-11D-2201-08	32751979	83411138	71859422	106	121537											
PNMA5	114824	broad.mit.edu	37	chrX	152159384	152159384	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagactttctctccaatcttCggagaggtctgcagaaacct	9	11	3	3			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:152159384C>T	uc010ntw.2	-	3	1098	c.759G>A	c.(757-759)CCG>CCA	p.P253P	PNMA5_uc004fha.3_Silent_p.P253P|PNMA5_uc010ntx.2_Silent_p.P253P|PNMA5_uc004fgy.3_Silent_p.P253P	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	253					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAATCTTCGGAGAGGTCT	0.522													T	152159384	C	T	152159384	2	4	241	1	0	0	0	0	0	0	0	1	12156	871	31	1		1	PNMA5	23	152159384	Silent	SNP	C	TCGA-FP-7916-01A-11D-2201-08	68748246	152159384	3111176	107	121538											
TREX2	11219	broad.mit.edu	37	chrX	152713230	152713230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaacgtggggctgcaaCggcttctgctgccacaatca	11	13	2	0			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:152713230C>T	uc010nue.1	-	1	138	c.22G>A	c.(22-24)GTT>ATT	p.V8I	TREX2_uc010nud.1_5'Flank|TREX2_uc011myp.1_5'Flank|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_3'UTR|HAUS7_uc004fho.1_3'UTR|HAUS7_uc004fhp.1_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	Error:Variant_position_missing_in_Q9BQ50_after_alignment					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCTGCAACGGCTTCTGCT	0.587								Editing_and_processing_nucleases					T	152713230	C	T	152713230	3	4	241	1	0	0	0	0	1	0	0	0	16474	551	19	1		1	TREX2	23	152713230	Missense_Mutation	SNP	C	TCGA-FP-7916-01A-11D-2201-08	553846	152713230	2557330	108	121539											
UBR4	23352	broad.mit.edu	37	chr1	19454159	19454159	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagatttggtgcgggacatGaagacactcaggagtctcat	12	9	2	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:19454159G>A	uc001bbi.2	-	63	9190	c.9186C>T	c.(9184-9186)TTC>TTT	p.F3062F	UBR4_uc001bbk.1_Silent_p.F709F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3062					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		TGCGGGACATGAAGACACTCA	0.488													A	19454159	G	A	19454159	2	1	242	1	0	0	0	0	0	0	0	1	16901	1281	45	4		4	UBR4	1	19454159	Silent	SNP	G	TCGA-FP-7998-01A-11D-2201-08		19454159	229796462	1	121540											
ARID1A	8289	broad.mit.edu	37	chr1	27101252	27101252	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctataattatgccaacaggCagagcacgggctctgccccc	9	15	1	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:27101252C>T	uc001bmv.1	+	18	4907	c.4534C>T	c.(4534-4536)CAG>TAG	p.Q1512*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1511*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q1129*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q358*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1512					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		TGCCAACAGGCAGAGCACGGG	0.577			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27101252	C	T	27101252	4	4	242	1	0	0	0	0	0	1	0	0	913	711	25	2	4604	2	ARID1A	1	27101252	Nonsense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	7647093	27101252	222149369	2	121541											
SFRS4	6429	broad.mit.edu	37	chr1	29475721	29475721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggctccggctcttgctcCgggagcgggagcccgacctg	15	16	1	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:29475721C>T	uc001bro.2	-	6	1059	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	SFRS4_uc010ofy.1_Silent_p.P127P	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	229	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		gctcTTGCTCCGGGAGCGGGA	0.438													T	29475721	C	T	29475721	3	4	242	1	0	0	0	0	1	0	0	0	14179	652	23	1	802	1	SFRS4	1	29475721	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	2374469	29475721	219774900	3	121542											
NCDN	23154	broad.mit.edu	37	chr1	36023804	36023804	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcatcaatgtcgtgttgtGacctggctgcggcgggacag	14	10	2	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:36023804G>A	uc001bza.2	+	2	140	c.13G>A	c.(13-15)GAC>AAC	p.D5N	KIAA0319L_uc001byx.2_5'Flank|KIAA0319L_uc010ohw.1_5'Flank|KIAA0319L_uc001byz.2_5'Flank|KIAA0319L_uc010ohx.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.D5N|NCDN_uc001bzc.2_Intron	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	5					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCGTGTTGTGACCTGGCTGC	0.567													A	36023804	G	A	36023804	3	1	242	1	0	0	0	0	1	0	0	0	10214	1290	45	4	15	4	NCDN	1	36023804	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	6548083	36023804	213226817	4	121543											
NT5C1A	84618	broad.mit.edu	37	chr1	40131295	40131295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatcagggtacagctcccGcagccgcctgttcacggcct	10	16	2	0	rs144180251		TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:40131295G>A	uc001cdq.1	-	3	331	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	111					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			ovary(1)	1	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)			TACAGCTCCCGCAGCCGCCTG	0.557													A	40131295	G	A	40131295	3	1	242	1	0	0	0	0	1	0	0	0	10685	1086	38	1	791	1	NT5C1A	1	40131295	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	4107491	40131295	209119326	5	121544											
SLC6A17	388662	broad.mit.edu	37	chr1	110737326	110737326	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggcctgggcagcatgatCgggaccatggcaggcatcac	15	12	1	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:110737326C>T	uc009wfq.2	+	9	1886	c.1425C>T	c.(1423-1425)ATC>ATT	p.I475I	SLC6A17_uc001dze.1_Silent_p.I73I	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	475	Helical; Name=8; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		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)		GCAGCATGATCGGGACCATGG	0.592													T	110737326	C	T	110737326	2	4	242	1	0	0	0	0	0	0	0	1	14680	874	31	1		1	SLC6A17	1	110737326	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	70606031	110737326	138513295	6	121545											
IGSF3	3321	broad.mit.edu	37	chr1	117150568	117150568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctctctacttactgagGgggaggactatgatggggat	13	7	2	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:117150568G>A	uc001egr.1	-	5	1923	c.1218C>T	c.(1216-1218)CCC>CCT	p.P406P	IGSF3_uc001egq.1_Silent_p.P406P|IGSF3_uc001egs.1_Silent_p.P79P	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	406	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		ACTTACTGAGGGGGAGGACTA	0.517													A	117150568	G	A	117150568	2	1	242	1	0	0	0	0	0	0	0	1	7601	1219	43	4		4	IGSF3	1	117150568	Silent	SNP	G	TCGA-FP-7998-01A-11D-2201-08	6413242	117150568	132100053	7	121546											
ATP8B2	57198	broad.mit.edu	37	chr1	154316667	154316667	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacttcagcaaggggttccaGagaccattgccctcctgaca	9	13	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:154316667G>C	uc001fex.2	+	19	2071	c.2071G>C	c.(2071-2073)GAG>CAG	p.E691Q		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	677	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGGGTTCCAGAGACCATTGC	0.547													C	154316667	G	C	154316667	3	2	242	1	0	0	0	0	1	0	0	0	1195	943	33	5	2275	5	ATP8B2	1	154316667	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	37166099	154316667	94933954	8	121547											
PEX19	5824	broad.mit.edu	37	chr1	160252825	160252825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattgccttctcgaactcCgcagtggcttgggaagccag	11	12	2	0	rs150928521	byFrequency	TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:160252825C>T	uc001fvs.2	-	3	282	c.255G>A	c.(253-255)GCG>GCA	p.A85A	DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	85	Necessary for PEX19 function on peroxisome biogenesis.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCGAACTCCGCAGTGGCTT	0.552													T	160252825	C	T	160252825	2	4	242	1	0	0	0	0	0	0	0	1	11744	639	23	1		1	PEX19	1	160252825	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	5936158	160252825	88997796	9	121548											
HMCN1	83872	broad.mit.edu	37	chr1	186157143	186157143	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgggatcctgtttcagggTatgtcttgccttctcatccc	9	12	3	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:186157143T>C	uc001grq.1	+	106	16770	c.16541_splice	c.e106+2	p.G5514_splice	HMCN1_uc001grs.1_Splice_Site_p.G966_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTTTCAGGGTATGTCTTGCC	0.478													C	186157143	T	C	186157143	5	2	242	1	0	0	0	0	0	0	1	0	7220	1652	57	3	16965	3	HMCN1	1	186157143	Splice_Site	SNP	T	TCGA-FP-7998-01A-11D-2201-08	25904318	186157143	63093478	10	121549											
ACTN2	88	broad.mit.edu	37	chr1	236914816	236914816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggccacgctgcccgaggCggacggagagcggcagtcca	16	14	0	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:236914816C>T	uc001hyf.2	+	15	1907	c.1703C>T	c.(1702-1704)GCG>GTG	p.A568V	ACTN2_uc001hyg.2_Missense_Mutation_p.A360V|ACTN2_uc009xgi.1_Missense_Mutation_p.A568V|ACTN2_uc010pxu.1_Missense_Mutation_p.A257V|ACTN2_uc001hyh.2_Missense_Mutation_p.A256V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	568	Spectrin 3.				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			ovary(4)|skin(1)	5	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)			CTGCCCGAGGCGGACGGAGAG	0.522													T	236914816	C	T	236914816	3	4	242	1	0	0	0	0	1	0	0	0	205	768	27	1	1761	1	ACTN2	1	236914816	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	50757673	236914816	12335805	11	121550											
LRRN1	57633	broad.mit.edu	37	chr3	3887403	3887403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaaagacagtcgaatccCtccccaatctgcgtgagatc	7	14	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:3887403C>T	uc003bpt.3	+	2	1839	c.1078C>T	c.(1078-1080)CTC>TTC	p.L360F	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	360	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGTCGAATCCCTCCCCAATCT	0.478													T	3887403	C	T	3887403	3	4	242	1	0	0	0	0	1	0	0	0	9034	681	24	4	1080	4	LRRN1	3	3887403	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08		3887403	194135027	12	121551											
CSPG5	10675	broad.mit.edu	37	chr3	47610613	47610613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggcatggggggaggagGtacggggagtgttgcaaagt	21	5	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:47610613G>A	uc003crp.3	-	4	1663	c.1487C>T	c.(1486-1488)ACC>ATC	p.T496I	CSPG5_uc003crn.2_Intron|CSPG5_uc003cro.3_Intron|CSPG5_uc011bbb.1_Missense_Mutation_p.T358I	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	496	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGGGAGGAGGTACGGGGAGT	0.512													A	47610613	G	A	47610613	3	1	242	1	0	0	0	0	1	0	0	0	3961	1276	44	4		4	CSPG5	3	47610613	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	43723210	47610613	150411817	13	121552											
KALRN	8997	broad.mit.edu	37	chr3	124174132	124174132	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaccacggtggacaagCactacagagatttctccctg	12	11	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:124174132C>G	uc003ehg.2	+	22	3782	c.3655C>G	c.(3655-3657)CAC>GAC	p.H1219D	KALRN_uc010hrv.1_Missense_Mutation_p.H1210D|KALRN_uc003ehf.1_Missense_Mutation_p.H1219D|KALRN_uc011bjy.1_Missense_Mutation_p.H1210D|KALRN_uc003ehh.1_Missense_Mutation_p.H565D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1219	Spectrin 5.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGTGGACAAGCACTACAGAGA	0.512													G	124174132	C	G	124174132	3	3	242	1	0	0	0	0	1	0	0	0	7975	710	25	5	3741	5	KALRN	3	124174132	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	76563519	124174132	73848298	14	121553											
ALDH1L1	10840	broad.mit.edu	37	chr3	125826018	125826018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatgatcatgacaggccCgaaggactcctccttggcta	11	11	1	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:125826018C>T	uc003eim.1	-	21	2609	c.2419G>A	c.(2419-2421)GGG>AGG	p.G807R	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G706R|ALDH1L1_uc003ein.1_Missense_Mutation_p.G342R	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	807	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATGACAGGCCCGAAGGACTCC	0.512													T	125826018	C	T	125826018	3	4	242	1	0	0	0	0	1	0	0	0	494	652	23	1	301	1	ALDH1L1	3	125826018	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	1651886	125826018	72196412	15	121554											
BCHE	590	broad.mit.edu	37	chr3	165548173	165548173	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaagagagttacacttttagGatttccaccaaaggctgcta	8	8	0	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:165548173G>C	uc003fem.3	-	2	809	c.649C>G	c.(649-651)CCT>GCT	p.P217A	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	217					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			ovary(3)|pancreas(1)	4					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)	ACACTTTTAGGATTTCCACCA	0.443													C	165548173	G	C	165548173	3	2	242	1	0	0	0	0	1	0	0	0	1358	1174	41	5	1171	5	BCHE	3	165548173	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	39722155	165548173	32474257	16	121555											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	8	11	3	4	rs121913273		TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|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).		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(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	242	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1658	4	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	13387909	178936082	19086348	17	121556											
PPP3CA	5530	broad.mit.edu	37	chr4	102117123	102117123	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttttcctgtcgaagaattGatgcaccctctgttattatt	6	8	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr4:102117123G>C	uc011cen.1	-	2	884	c.209C>G	c.(208-210)TCA>TGA	p.S70*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.S70*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.S70*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.S57*|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.S70*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	70	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCGAAGAATTGATGCACCCTC	0.428													C	102117123	G	C	102117123	4	2	242	1	0	0	0	0	0	1	0	0	12397	1294	45	5	1408	5	PPP3CA	4	102117123	Nonsense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08		102117123	89037153	18	121557											
PCDH18	54510	broad.mit.edu	37	chr4	138451632	138451632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagtgatctgactcacTtcttcatgatcaaagattct	5	9	6	4			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr4:138451632T>G	uc003ihe.3	-	1	1998	c.1611A>C	c.(1609-1611)GAA>GAC	p.E537D	PCDH18_uc003ihf.3_Missense_Mutation_p.E530D|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E317D|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	537	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TCTGACTCACTTCTTCATGAT	0.418													G	138451632	T	G	138451632	3	3	242	1	0	0	0	0	1	0	0	0	11513	1606	56	5	1812	5	PCDH18	4	138451632	Missense_Mutation	SNP	T	TCGA-FP-7998-01A-11D-2201-08	36334509	138451632	52702644	19	121558											
FSTL5	56884	broad.mit.edu	37	chr4	162307248	162307248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagatttgtgtaaataTcaaaagcctcctgtatttct	7	7	2	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr4:162307248T>C	uc003iqh.2	-	16	2631	c.2195A>G	c.(2194-2196)GAT>GGT	p.D732G	FSTL5_uc003iqi.2_Missense_Mutation_p.D731G|FSTL5_uc010iqv.2_Missense_Mutation_p.D722G|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	732						extracellular region	calcium ion binding	p.D732N(1)		ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTGTAAATATCAAAAGCCTC	0.408													C	162307248	T	C	162307248	3	2	242	1	0	0	0	0	1	0	0	0	6080	1435	50	3	352	3	FSTL5	4	162307248	Missense_Mutation	SNP	T	TCGA-FP-7998-01A-11D-2201-08	23855616	162307248	28847028	20	121559											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232555	5232555	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catggccactggtcggactgGtcttcttggtccccatgctc	11	14	2	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:5232555G>C	uc003jdl.2	+	12	1914	c.1776G>C	c.(1774-1776)TGG>TGC	p.W592C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.W592C|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	592	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GGTCGGACTGGTCTTCTTGGT	0.537													C	5232555	G	C	5232555	3	2	242	1	0	0	0	0	1	0	0	0	261	1270	44	5	1822	5	ADAMTS16	5	5232555	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08		5232555	175682705	21	121560											
VCAN	1462	broad.mit.edu	37	chr5	82836373	82836373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatatgagaggtccacagaCggtagtttccaagaccgttt	10	9	1	3	rs77870162	byFrequency	TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:82836373C>T	uc003kii.3	+	8	7907	c.7551C>T	c.(7549-7551)GAC>GAT	p.D2517D	VCAN_uc003kij.3_Silent_p.D1530D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.D1181D	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2517	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GGTCCACAGACGGTAGTTTCC	0.433													T	82836373	C	T	82836373	2	4	242	1	0	0	0	0	0	0	0	1	17135	535	19	1		1	VCAN	5	82836373	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	77603818	82836373	98078887	22	121561											
MEF2C	4208	broad.mit.edu	37	chr5	88047821	88047821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgttgtggctggacactgGgatggagactggcatctcga	15	8	1	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:88047821G>T	uc003kjj.2	-	5	1115	c.442C>A	c.(442-444)CCA>ACA	p.P148T	MEF2C_uc003kji.2_Missense_Mutation_p.P148T|MEF2C_uc003kjk.2_Missense_Mutation_p.P148T|MEF2C_uc003kjm.2_Missense_Mutation_p.P146T|MEF2C_uc003kjl.2_Missense_Mutation_p.P166T	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	148	Ser-rich.				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			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		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)		CTGGACACTGGGATGGAGACT	0.478										HNSCC(66;0.2)			T	88047821	G	T	88047821	3	4	242	1	0	0	0	0	1	0	0	0	9457	1232	43	5	1007	5	MEF2C	5	88047821	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	5211448	88047821	92867439	23	121562											
AFF4	27125	broad.mit.edu	37	chr5	132227941	132227941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttgctgctgccactcGtctccttgttgctgttactg	9	11	1	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:132227941G>A	uc003kyd.2	-	13	2960	c.2552C>T	c.(2551-2553)ACG>ATG	p.T851M	AFF4_uc011cxk.1_Missense_Mutation_p.T529M|AFF4_uc003kye.1_Missense_Mutation_p.T851M	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	851	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGCCACTCGTCTCCTTGTT	0.468													A	132227941	G	A	132227941	3	1	242	1	0	0	0	0	1	0	0	0	359	1145	40	1	975	1	AFF4	5	132227941	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	44180120	132227941	48687319	24	121563											
KIAA1191	57179	broad.mit.edu	37	chr5	175774949	175774949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtacttctgaagggatctCggtccaaagaggctccactt	10	11	2	2	rs138167765	byFrequency	TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:175774949C>T	uc003mdw.2	-	8	1056	c.684G>A	c.(682-684)CCG>CCA	p.P228P	KIAA1191_uc003mdx.2_Silent_p.P209P|KIAA1191_uc003mdy.2_Silent_p.P228P|KIAA1191_uc003mea.2_Silent_p.P21P|KIAA1191_uc003mdz.2_RNA	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	228							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GAAGGGATCTCGGTCCAAAGA	0.483													T	175774949	C	T	175774949	2	4	242	1	0	0	0	0	0	0	0	1	8212	871	31	1		1	KIAA1191	5	175774949	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	43547008	175774949	5140311	25	121564											
PRL	5617	broad.mit.edu	37	chr6	22294695	22294695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgggacaggacgacggcGcggtcaaacaggtctcgaag	16	9	2	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:22294695G>A	uc003ndp.2	-	2	666	c.147C>T	c.(145-147)CGC>CGT	p.R49R	PRL_uc003ndo.2_Silent_p.R50R|PRL_uc003ndq.2_Silent_p.R49R|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	49					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				0	Ovarian(93;0.163)					GGACGACGGCGCGGTCAAACA	0.592													A	22294695	G	A	22294695	2	1	242	1	0	0	0	0	0	0	0	1	12528	1074	38	1		1	PRL	6	22294695	Silent	SNP	G	TCGA-FP-7998-01A-11D-2201-08		22294695	148820372	26	121565											
TFAP2D	83741	broad.mit.edu	37	chr6	50682949	50682949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttactccaccaccggcaccGagtttgcgtccccctacttc	6	19	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:50682949G>A	uc003paf.2	+	2	672	c.160G>A	c.(160-162)GAG>AAG	p.E54K	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	54							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CACCGGCACCGAGTTTGCGTC	0.572													A	50682949	G	A	50682949	3	1	242	1	0	0	0	0	1	0	0	0	15787	1059	37	1	166	1	TFAP2D	6	50682949	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	28388254	50682949	120432118	27	121566											
COL19A1	1310	broad.mit.edu	37	chr6	70637880	70637880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaacgccaaaaaggaaCggtggtttctgtggcaggtt	14	6	1	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:70637880C>T	uc003pfc.1	+	5	463	c.346C>T	c.(346-348)CGG>TGG	p.R116W	COL19A1_uc010kam.1_Missense_Mutation_p.R12W	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	116	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			ovary(2)|breast(2)	4						CAAAAAGGAACGGTGGTTTCT	0.428													T	70637880	C	T	70637880	3	4	242	1	0	0	0	0	1	0	0	0	3676	527	19	1	360	1	COL19A1	6	70637880	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	19954931	70637880	100477187	28	121567											
QKI	9444	broad.mit.edu	37	chr6	163836228	163836228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcggagcctggaatatGgtcggggaaatggaaacgaa	16	6	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:163836228G>A	uc003qui.2	+	1	554	c.3G>A	c.(1-3)ATG>ATA	p.M1I	QKI_uc003que.2_Missense_Mutation_p.M1I|QKI_uc003quf.2_Missense_Mutation_p.M1I|QKI_uc003qug.2_Missense_Mutation_p.M1I|QKI_uc003quh.2_Missense_Mutation_p.M1I|QKI_uc003quj.2_Missense_Mutation_p.M1I	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	1					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		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)		CCTGGAATATGGTCGGGGAAA	0.393													A	163836228	G	A	163836228	3	1	242	1	0	0	0	0	1	0	0	0	12873	1348	47	4	5	4	QKI	6	163836228	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	93198348	163836228	7278839	29	121568											
PDE10A	10846	broad.mit.edu	37	chr6	165808679	165808679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcataccaggatgtcCcacaggaccgatgaaccatg	9	12	2	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:165808679C>T	uc003qun.2	-	16	1707	c.1466G>A	c.(1465-1467)GGG>GAG	p.G489E	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G419E|PDE10A_uc003quo.2_Missense_Mutation_p.G499E	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	489					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		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)	CCAGGATGTCCCACAGGACCG	0.373													T	165808679	C	T	165808679	3	4	242	1	0	0	0	0	1	0	0	0	11630	623	22	4	905	4	PDE10A	6	165808679	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	1972451	165808679	5306388	30	121569											
ZNF804B	219578	broad.mit.edu	37	chr7	88963200	88963200	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccataaactctaaaAttttgcaagacaaacacgac	3	12	2	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr7:88963200A>C	uc011khi.1	+	4	1442	c.904A>C	c.(904-906)ATT>CTT	p.I302L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	302						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAACTCTAAAATTTTGCAAGA	0.343										HNSCC(36;0.09)			C	88963200	A	C	88963200	3	2	242	1	0	0	0	0	1	0	0	0	18168	101	4	5	918	5	ZNF804B	7	88963200	Missense_Mutation	SNP	A	TCGA-FP-7998-01A-11D-2201-08		88963200	70175463	31	121570											
LMTK2	22853	broad.mit.edu	37	chr7	97821450	97821450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatatccagttagaagaaaAaagtggtagtaacttggagc	10	4	0	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr7:97821450A>G	uc003upd.1	+	11	1966	c.1673A>G	c.(1672-1674)AAA>AGA	p.K558R		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	558					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					TTAGAAGAAAAAAGTGGTAGT	0.517													G	97821450	A	G	97821450	3	3	242	1	0	0	0	0	1	0	0	0	8859	14	1	3	1715	3	LMTK2	7	97821450	Missense_Mutation	SNP	A	TCGA-FP-7998-01A-11D-2201-08	8858250	97821450	61317213	32	121571											
ANK1	286	broad.mit.edu	37	chr8	41550270	41550270	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcaggcgcccctctcGggggtcattcatcttggcaa	13	14	4	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr8:41550270G>A	uc003xok.2	-	31	3838	c.3754C>T	c.(3754-3756)CGA>TGA	p.R1252*	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Nonsense_Mutation_p.R568*|ANK1_uc003xoi.2_Nonsense_Mutation_p.R1252*|ANK1_uc003xoj.2_Nonsense_Mutation_p.R1252*|ANK1_uc003xol.2_Nonsense_Mutation_p.R1252*|ANK1_uc003xom.2_Nonsense_Mutation_p.R1293*	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			CGCCCCTCTCGGGGGTCATTC	0.557													A	41550270	G	A	41550270	4	1	242	1	0	0	0	0	0	1	0	0	620	1124	39	1	2265	1	ANK1	8	41550270	Nonsense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08		41550270	104813752	33	121572											
ZNF251	90987	broad.mit.edu	37	chr8	145947781	145947781	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtgtgaatccttacgtgttCagtaagatgagagttaaaac	10	5	1	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr8:145947781C>G	uc003zdv.3	-	5	1520	c.1264G>C	c.(1264-1266)GAA>CAA	p.E422Q		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	422	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTTACGTGTTCAGTAAGATGA	0.448													G	145947781	C	G	145947781	3	3	242	1	0	0	0	0	1	0	0	0	17793	835	29	5	755	5	ZNF251	8	145947781	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	104397511	145947781	416241	34	121573											
PTPRD	5789	broad.mit.edu	37	chr9	8485824	8485824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcccgggccctttgctcGtatgagcacgtacttttaca	10	12	0	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr9:8485824G>A	uc003zkk.2	-	27	3704	c.2993C>T	c.(2992-2994)ACG>ATG	p.T998M	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T989M|PTPRD_uc003zkm.2_Missense_Mutation_p.T985M|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		CCCTTTGCTCGTATGAGCACG	0.498										TSP Lung(15;0.13)			A	8485824	G	A	8485824	3	1	242	1	0	0	0	0	1	0	0	0	12799	1145	40	1	2889	1	PTPRD	9	8485824	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08		8485824	132727607	35	121574											
GAPVD1	26130	broad.mit.edu	37	chr9	128092357	128092357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccactggttatacagGtgctgcagcagagaacatgt	11	10	0	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr9:128092357G>A	uc010mwx.2	+	13	2359	c.2033G>A	c.(2032-2034)GGT>GAT	p.G678D	GAPVD1_uc011lzs.1_Missense_Mutation_p.G678D|GAPVD1_uc004bpp.2_Missense_Mutation_p.G678D|GAPVD1_uc004bpq.2_Missense_Mutation_p.G678D|GAPVD1_uc004bpr.2_Missense_Mutation_p.G657D|GAPVD1_uc004bps.2_Missense_Mutation_p.G678D|GAPVD1_uc010mwy.1_Missense_Mutation_p.G537D	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	678					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GGTTATACAGGTGCTGCAGCA	0.468													A	128092357	G	A	128092357	3	1	242	1	0	0	0	0	1	0	0	0	6239	1275	44	4	2071	4	GAPVD1	9	128092357	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	119606533	128092357	13121074	36	121575											
QSOX2	169714	broad.mit.edu	37	chr9	139113777	139113777	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctttcatacgggatcaggTctaagatcacctgggggatg	13	8	4	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr9:139113777T>A	uc010nbi.2	-	6	724	c.686A>T	c.(685-687)GAC>GTC	p.D229V		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	229					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CGGGATCAGGTCTAAGATCAC	0.522													A	139113777	T	A	139113777	3	1	242	1	0	0	0	0	1	0	0	0	12884	1667	58	5	1438	5	QSOX2	9	139113777	Missense_Mutation	SNP	T	TCGA-FP-7998-01A-11D-2201-08	11021420	139113777	2099654	37	121576											
MUC5B	727897	broad.mit.edu	37	chr11	1267649	1267649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggtgcccaccggatccaCggccaccgcctcctccaccc	9	22	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:1267649C>T	uc009ycr.1	+	49	11414	c.11288C>T	c.(11287-11289)ACG>ATG	p.T3763M	MUC5B_uc001ltb.2_Missense_Mutation_p.T3183M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3180	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		ACCGGATCCACGGCCACCGCC	0.687													T	1267649	C	T	1267649	3	4	242	1	0	0	0	0	1	0	0	0	9979	536	19	1	9670	1	MUC5B	11	1267649	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08		1267649	133738867	38	121577											
CTR9	9646	broad.mit.edu	37	chr11	10777233	10777233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacttcatagaaccatttGttgggaagagcctgcttctg	9	8	2	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:10777233G>A	uc001mja.2	+	4	542	c.393G>A	c.(391-393)TTG>TTA	p.L131L		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	131	TPR 2.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGAACCATTTGTTGGGAAGAG	0.383													A	10777233	G	A	10777233	2	1	242	1	0	0	0	0	0	0	0	1	4024	1368	48	4		4	CTR9	11	10777233	Silent	SNP	G	TCGA-FP-7998-01A-11D-2201-08	9509584	10777233	124229283	39	121578											
ABCC8	6833	broad.mit.edu	37	chr11	17415246	17415246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaatgggccccttaccgCgatggtgaccacagtgcggt	12	13	1	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:17415246C>T	uc001mnc.2	-	38	4732	c.4606G>A	c.(4606-4608)GCG>ACG	p.A1536T		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1536	Cytoplasmic (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCCTTACCGCGATGGTGACC	0.622													T	17415246	C	T	17415246	3	4	242	1	0	0	0	0	1	0	0	0	58	768	27	1	147	1	ABCC8	11	17415246	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	6638013	17415246	117591270	40	121579											
PHOX2A	401	broad.mit.edu	37	chr11	71952253	71952253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctccttgagctgcgCgctggtgaacgtggtgcgga	15	12	0	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:71952253C>T	uc001osh.3	-	2	470	c.298G>A	c.(298-300)GCG>ACG	p.A100T		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	100	Homeobox.				noradrenergic neuron differentiation|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				0						TTGAGCTGCGCGCTGGTGAAC	0.637													T	71952253	C	T	71952253	3	4	242	1	0	0	0	0	1	0	0	0	11858	768	27	1	564	1	PHOX2A	11	71952253	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	54537007	71952253	63054263	41	121580											
NINJ2	4815	broad.mit.edu	37	chr12	675332	675332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgggctggctcctggggtCggagcttccaggctgtaggg	19	9	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:675332C>T	uc001qil.2	-	2	275	c.184G>A	c.(184-186)GAC>AAC	p.D62N	NINJ2_uc010sdr.1_5'UTR|NINJ2_uc010sds.1_Missense_Mutation_p.D62N	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	16	Extracellular (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	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)			CTCCTGGGGTCGGAGCTTCCA	0.512													T	675332	C	T	675332	3	4	242	1	0	0	0	0	1	0	0	0	10419	884	31	1	390	1	NINJ2	12	675332	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08		675332	133176563	42	121581											
PRB3	5544	broad.mit.edu	37	chr12	11420936	11420936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggtttcctccttgtgGgggtggtccttctggctttc	14	10	1	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:11420936G>A	uc001qzs.2	-	3	285	c.247C>T	c.(247-249)CCA>TCA	p.P83S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	83	2.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTCCTTGTGGGGGTGGTCCT	0.627													A	11420936	G	A	11420936	3	1	242	1	0	0	0	0	1	0	0	0	12444	1232	43	4	690	4	PRB3	12	11420936	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	10745604	11420936	122430959	43	121582											
SP7	121340	broad.mit.edu	37	chr12	53722327	53722327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatacaccttgccgcagCcagggatgtggcagctgtgg	14	12	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:53722327C>T	uc001sct.2	-	2	1006	c.899G>A	c.(898-900)GGC>GAC	p.G300D	SP7_uc001scu.2_Missense_Mutation_p.G282D|SP7_uc001scv.2_Missense_Mutation_p.G300D	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	300	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTGCCGCAGCCAGGGATGTG	0.647													T	53722327	C	T	53722327	3	4	242	1	0	0	0	0	1	0	0	0	14969	739	26	2	400	2	SP7	12	53722327	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	42301391	53722327	80129568	44	121583											
MMP19	4327	broad.mit.edu	37	chr12	56231058	56231058	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttgccaactcatagcagccGagggctggtttggcactccc	11	14	1	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:56231058G>T	uc001sib.2	-	9	1410	c.1289C>A	c.(1288-1290)TCG>TAG	p.S430*	MMP19_uc001sia.2_Nonsense_Mutation_p.S144*|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	430	Hemopexin-like 4.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1						CATAGCAGCCGAGGGCTGGTT	0.557													T	56231058	G	T	56231058	4	4	242	1	0	0	0	0	0	1	0	0	9657	1059	37	5	241	5	MMP19	12	56231058	Nonsense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	2508731	56231058	77620837	45	121584											
SUOX	6821	broad.mit.edu	37	chr12	56397880	56397880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctatcgcttacacgtagtagGagcacctgggggtcagtcac	12	11	2	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:56397880G>T	uc001six.2	+	6	1033	c.707G>T	c.(706-708)GGA>GTA	p.G236V	SUOX_uc001siy.2_Missense_Mutation_p.G236V|SUOX_uc001siz.2_Missense_Mutation_p.G236V|SUOX_uc001sja.2_Missense_Mutation_p.G236V	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	236	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACGTAGTAGGAGCACCTGGG	0.532													T	56397880	G	T	56397880	3	4	242	1	0	0	0	0	1	0	0	0	15392	1174	41	5	717	5	SUOX	12	56397880	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	166822	56397880	77454015	46	121585											
MYF5	4617	broad.mit.edu	37	chr12	81111120	81111120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccactatgcgcgagcGgaggcgcctgaagaaggtca	16	11	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:81111120G>A	uc001szg.2	+	1	413	c.278G>A	c.(277-279)CGG>CAG	p.R93Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	93	Basic motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ATGCGCGAGCGGAGGCGCCTG	0.607													A	81111120	G	A	81111120	3	1	242	1	0	0	0	0	1	0	0	0	10027	1116	39	1	280	1	MYF5	12	81111120	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	24713240	81111120	52740775	47	121586											
CIT	11113	broad.mit.edu	37	chr12	120190007	120190007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagagctgtagctctgtgaGctggcgcttgagctccagtt	15	9	1	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:120190007G>C	uc001txi.1	-	22	2679	c.2626C>G	c.(2626-2628)CTC>GTC	p.L876V	CIT_uc001txh.1_Missense_Mutation_p.L410V|CIT_uc001txj.1_Missense_Mutation_p.L918V	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	876	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGCTCTGTGAGCTGGCGCTTG	0.517													C	120190007	G	C	120190007	3	2	242	1	0	0	0	0	1	0	0	0	3438	971	34	5	3561	5	CIT	12	120190007	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	39078887	120190007	13661888	48	121587											
FLT1	2321	broad.mit.edu	37	chr13	28903858	28903858	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtactcgctggccgtGgccccctctgtgtgagaagc	13	13	1	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr13:28903858G>T	uc001usb.3	-	19	2886	c.2601C>A	c.(2599-2601)GCC>GCA	p.A867A	FLT1_uc010aaq.2_5'UTR|FLT1_uc001usa.3_Silent_p.A85A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	867	Cytoplasmic (Potential).|Protein kinase.				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	CGCTGGCCGTGGCCCCCTCTG	0.567													T	28903858	G	T	28903858	2	4	242	1	0	0	0	0	0	0	0	1	5941	1335	47	5		5	FLT1	13	28903858	Silent	SNP	G	TCGA-FP-7998-01A-11D-2201-08		28903858	86266020	49	121588											
FREM2	341640	broad.mit.edu	37	chr13	39262281	39262281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaactaggcgtgcgctatcGccacacagccgccagtcgct	12	15	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr13:39262281G>A	uc001uwv.2	+	1	1109	c.800G>A	c.(799-801)CGC>CAC	p.R267H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	267	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		GTGCGCTATCGCCACACAGCC	0.632													A	39262281	G	A	39262281	3	1	242	1	0	0	0	0	1	0	0	0	6045	1087	38	1	802	1	FREM2	13	39262281	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	10358423	39262281	75907597	50	121589											
NUFIP1	26747	broad.mit.edu	37	chr13	45517811	45517811	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcttgatgggagtttcTaagtgtgatgaaaaacaaac	10	5	3	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr13:45517811T>A	uc001uzp.2	-	9	1181	c.1139_splice	c.e9-1	p.E380_splice		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein						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				0		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)		TGGGAGTTTCTAAGTGTGATG	0.333													A	45517811	T	A	45517811	5	1	242	1	0	0	0	0	0	0	1	0	10748	1536	53	5	358	5	NUFIP1	13	45517811	Splice_Site	SNP	T	TCGA-FP-7998-01A-11D-2201-08	6255530	45517811	69652067	51	121590											
OR4K1	79544	broad.mit.edu	37	chr14	20404085	20404085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcttgtagacttttttaTtgagcgcaagactatctcct	8	8	1	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:20404085T>C	uc001vwj.1	+	1	260	c.260T>C	c.(259-261)ATT>ACT	p.I87T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GACTTTTTTATTGAGCGCAAG	0.408													C	20404085	T	C	20404085	3	2	242	1	0	0	0	0	1	0	0	0	11067	1493	52	3	262	3	OR4K1	14	20404085	Missense_Mutation	SNP	T	TCGA-FP-7998-01A-11D-2201-08		20404085	86945455	52	121591											
MYH6	4624	broad.mit.edu	37	chr14	23851751	23851751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttgcggaacttggacagGttggtgttggcttgctcctc	13	10	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:23851751G>T	uc001wjv.2	-	38	5749	c.5682C>A	c.(5680-5682)AAC>AAA	p.N1894K		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1894	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTTGGACAGGTTGGTGTTGG	0.592													T	23851751	G	T	23851751	3	4	242	1	0	0	0	0	1	0	0	0	10038	1252	44	5	145	5	MYH6	14	23851751	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	3447666	23851751	83497789	53	121592											
RPL10L	140801	broad.mit.edu	37	chr14	47120763	47120763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagggcttcagaagacagCtgctcatattcatcagacac	8	12	4	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:47120763C>A	uc001wwg.2	-	1	266	c.177G>T	c.(175-177)CAG>CAT	p.Q59H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	59					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CAGAAGACAGCTGCTCATATT	0.512													A	47120763	C	A	47120763	3	1	242	1	0	0	0	0	1	0	0	0	13556	796	28	5	471	5	RPL10L	14	47120763	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	23269012	47120763	60228777	54	121593											
BCL11B	64919	broad.mit.edu	37	chr14	99723808	99723808	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcgcagcatcccatacCtgcaatgttctcctgcttgg	9	14	1	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:99723808C>A	uc001yga.2	-	2	694	c.427G>T	c.(427-429)GGG>TGG	p.G143W	BCL11B_uc001ygb.2_Missense_Mutation_p.G143C	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	143						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATCCCATACCTGCAATGTTC	0.622			T	TLX3	T-ALL								A	99723808	C	A	99723808	3	1	242	1	0	0	0	0	1	0	0	0	1364	695	24	5	2269	5	BCL11B	14	99723808	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	52603045	99723808	7625732	55	121594											
AHNAK2	113146	broad.mit.edu	37	chr14	105413048	105413048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttgacgtctatctgggGgcccttgagatccactttgg	12	12	2	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:105413048G>A	uc010axc.1	-	7	8860	c.8740C>T	c.(8740-8742)CCC>TCC	p.P2914S	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2814S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2914						nucleus				ovary(1)	1		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)			TCTATCTGGGGGCCCTTGAGA	0.647													A	105413048	G	A	105413048	3	1	242	1	0	0	0	0	1	0	0	0	415	1232	43	4	8651	4	AHNAK2	14	105413048	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	5689240	105413048	1936492	56	121595											
PLK1	5347	broad.mit.edu	37	chr16	23691501	23691501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgccagtacctgcacCgaaaccgagttattcatcga	9	12	1	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:23691501C>T	uc002dlz.1	+	2	558	c.505C>T	c.(505-507)CGA>TGA	p.R169*		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	169	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			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		GTACCTGCACCGAAACCGAGT	0.532													T	23691501	C	T	23691501	4	4	242	1	0	0	0	0	0	1	0	0	12094	644	23	1	511	1	PLK1	16	23691501	Nonsense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08		23691501	66663252	57	121596											
ZNF785	146540	broad.mit.edu	37	chr16	30594148	30594148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataggtgaagcggcggccGcagtcaggacaggggtaggg	20	7	1	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:30594148G>A	uc002dyw.1	-	3	1029	c.951C>T	c.(949-951)TGC>TGT	p.C317C	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.C302C|ZNF785_uc010vez.1_Silent_p.C282C	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	317	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGCGGCGGCCGCAGTCAGGAC	0.642													A	30594148	G	A	30594148	2	1	242	1	0	0	0	0	0	0	0	1	18154	1079	38	1		1	ZNF785	16	30594148	Silent	SNP	G	TCGA-FP-7998-01A-11D-2201-08	6902647	30594148	59760605	58	121597											
ZNF423	23090	broad.mit.edu	37	chr16	49669967	49669967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggatcttgagctcaagCgtggaagtgactgtctgcat	12	9	3	2	rs145829157		TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:49669967C>T	uc002efs.2	-	5	3394	c.3096G>A	c.(3094-3096)ACG>ACA	p.T1032T	ZNF423_uc010vgn.1_Silent_p.T915T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1032	C2H2-type 24.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGAGCTCAAGCGTGGAAGTGA	0.597													T	49669967	C	T	49669967	2	4	242	1	0	0	0	0	0	0	0	1	17895	755	27	1		1	ZNF423	16	49669967	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	19075819	49669967	40684786	59	121598											
POLR2C	5432	broad.mit.edu	37	chr16	57503165	57503165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccagacgcgacatgtcaCgtctcgagacctcatctcca	8	15	4	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:57503165C>T	uc002elt.1	+	5	433	c.347C>T	c.(346-348)ACG>ATG	p.T116M	POLR2C_uc010vhq.1_Missense_Mutation_p.T116M	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	116					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				0						CGACATGTCACGTCTCGAGAC	0.577													T	57503165	C	T	57503165	3	4	242	1	0	0	0	0	1	0	0	0	12216	536	19	1	365	1	POLR2C	16	57503165	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	7833198	57503165	32851588	60	121599											
SETD6	79918	broad.mit.edu	37	chr16	58550528	58550528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttcagcctcagggttcGctccctagaactctaccacc	6	17	4	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:58550528G>A	uc002ens.2	+	4	682	c.623G>A	c.(622-624)CGC>CAC	p.R208H	SETD6_uc010cdl.2_Missense_Mutation_p.R208H|SETD6_uc002enr.2_Missense_Mutation_p.R184H|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.R132H	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	208	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						CTCAGGGTTCGCTCCCTAGAA	0.572													A	58550528	G	A	58550528	3	1	242	1	0	0	0	0	1	0	0	0	14135	1087	38	1	637	1	SETD6	16	58550528	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08	1047363	58550528	31804225	61	121600											
CDH16	1014	broad.mit.edu	37	chr16	66948198	66948198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggacacccaggtgctctctAtgatggagacttccacggtg	13	11	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:66948198A>G	uc002eql.2	-	7	774	c.701T>C	c.(700-702)ATA>ACA	p.I234T	CDH16_uc010cdy.2_Missense_Mutation_p.I234T|CDH16_uc002eqm.2_Missense_Mutation_p.I137T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	234	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTGCTCTCTATGATGGAGAC	0.587													G	66948198	A	G	66948198	3	3	242	1	0	0	0	0	1	0	0	0	3101	449	16	3	1836	3	CDH16	16	66948198	Missense_Mutation	SNP	A	TCGA-FP-7998-01A-11D-2201-08	8397670	66948198	23406555	62	121601											
WDR81	124997	broad.mit.edu	37	chr17	1635975	1635975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggatctgaagctggacCctgcgggccgtggtgagggc	17	10	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:1635975C>T	uc002fti.2	+	6	919	c.658C>T	c.(658-660)CCT>TCT	p.P220S	WDR81_uc002fth.2_Missense_Mutation_p.P396S|WDR81_uc010vqp.1_Missense_Mutation_p.P244S|WDR81_uc002ftj.2_Missense_Mutation_p.P1447S|WDR81_uc010vqq.1_Missense_Mutation_p.P78S	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	220										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGCTGGACCCTGCGGGCCG	0.692													T	1635975	C	T	1635975	3	4	242	1	0	0	0	0	1	0	0	0	17327	623	22	4	4423	4	WDR81	17	1635975	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08		1635975	79559235	63	121602											
CHRNE	1145	broad.mit.edu	37	chr17	4805383	4805383	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaactggccatcaataCtgtgggctcggggaaaccga	12	12	1	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:4805383C>G	uc002fzk.1	-	5	356	c.345_splice	c.e5-1	p.N115_splice	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon						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				0						GCCATCAATACTGTGGGCTCG	0.647													G	4805383	C	G	4805383	5	3	242	1	0	0	0	0	0	0	1	0	3395	579	20	5	1169	5	CHRNE	17	4805383	Splice_Site	SNP	C	TCGA-FP-7998-01A-11D-2201-08	3169408	4805383	76389827	64	121603											
NLRP1	22861	broad.mit.edu	37	chr17	5442796	5442796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagcagtcgcacgccaaCgtcatccaggttgttctgct	10	13	2	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:5442796C>T	uc002gci.2	-	7	3364	c.2809G>A	c.(2809-2811)GTT>ATT	p.V937I	NLRP1_uc002gcg.1_Missense_Mutation_p.V937I|NLRP1_uc002gck.2_Missense_Mutation_p.V937I|NLRP1_uc002gcj.2_Missense_Mutation_p.V937I|NLRP1_uc002gcl.2_Missense_Mutation_p.V937I|NLRP1_uc002gch.3_Missense_Mutation_p.V937I|NLRP1_uc010clh.2_Missense_Mutation_p.V937I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	937	LRR 5.				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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				CGCACGCCAACGTCATCCAGG	0.622													T	5442796	C	T	5442796	3	4	242	1	0	0	0	0	1	0	0	0	10471	536	19	1	1731	1	NLRP1	17	5442796	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	637413	5442796	75752414	65	121604											
MRM1	79922	broad.mit.edu	37	chr17	34958746	34958746	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcgttccgcacacttcctCggagtggataaggtcatcac	10	13	2	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:34958746C>T	uc002hne.2	+	1	722	c.507C>T	c.(505-507)CTC>CTT	p.L169L	MRM1_uc002hnf.2_Intron	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	169					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CACACTTCCTCGGAGTGGATA	0.602													T	34958746	C	T	34958746	2	4	242	1	0	0	0	0	0	0	0	1	9771	871	31	1		1	MRM1	17	34958746	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	29515950	34958746	46236464	66	121605											
DNAJC7	7266	broad.mit.edu	37	chr17	40140786	40140786	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccgattacagtagagtttAgcatttgtttttatattgtt	7	6	0	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:40140786A>G	uc002hyo.2	-	8	1119	c.882T>C	c.(880-882)GCT>GCC	p.A294A	DNAJC7_uc010cxu.2_Silent_p.A238A|DNAJC7_uc010cxv.2_Silent_p.A238A|DNAJC7_uc010wgb.1_Silent_p.A238A|DNAJC7_uc010wgc.1_Silent_p.A152A|DNAJC7_uc002hyp.2_Silent_p.A238A|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	294	TPR 8.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AGTAGAGTTTAGCATTTGTTT	0.383													G	40140786	A	G	40140786	2	3	242	1	0	0	0	0	0	0	0	1	4654	407	15	3		3	DNAJC7	17	40140786	Silent	SNP	A	TCGA-FP-7998-01A-11D-2201-08	5182040	40140786	41054424	67	121606											
STAT3	6774	broad.mit.edu	37	chr17	40475070	40475070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgacgcctccttctttgcTgctttcactgaatcttagca	7	12	3	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:40475070T>G	uc002hzl.1	-	20	2080	c.1840A>C	c.(1840-1842)AGC>CGC	p.S614R	STAT3_uc002hzk.1_Missense_Mutation_p.S614R|STAT3_uc002hzm.1_Missense_Mutation_p.S614R|STAT3_uc010wgh.1_Missense_Mutation_p.S516R|STAT3_uc002hzn.1_Missense_Mutation_p.S614R	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	614	SH2.				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			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCTTCTTTGCTGCTTTCACTG	0.572									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	40475070	T	G	40475070	3	3	242	1	0	0	0	0	1	0	0	0	15265	1580	55	5	492	5	STAT3	17	40475070	Missense_Mutation	SNP	T	TCGA-FP-7998-01A-11D-2201-08	334284	40475070	40720140	68	121607											
CDH7	1005	broad.mit.edu	37	chr18	63477064	63477064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccaagagactggatcGtgaggagcaggcctactaca	12	11	0	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr18:63477064G>A	uc002ljz.2	+	3	660	c.335G>A	c.(334-336)CGT>CAT	p.R112H	CDH7_uc002lka.2_Missense_Mutation_p.R112H|CDH7_uc002lkb.2_Missense_Mutation_p.R112H	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	112	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AGACTGGATCGTGAGGAGCAG	0.498													A	63477064	G	A	63477064	3	1	242	1	0	0	0	0	1	0	0	0	3115	1145	40	1	341	1	CDH7	18	63477064	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08		63477064	14600184	69	121608											
MCOLN1	57192	broad.mit.edu	37	chr19	7593841	7593841	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgggcaccatcatgaagatCggcatcgaggccaaggtgcg	14	11	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr19:7593841C>T	uc002mgo.2	+	9	1244	c.1119C>T	c.(1117-1119)ATC>ATT	p.I373I	MCOLN1_uc002mgp.2_Silent_p.I338I	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	373					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(1)	1						TCATGAAGATCGGCATCGAGG	0.627													T	7593841	C	T	7593841	2	4	242	1	0	0	0	0	0	0	0	1	9395	874	31	1		1	MCOLN1	19	7593841	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08		7593841	51535142	70	121609											
GRIN2D	2906	broad.mit.edu	37	chr19	48908092	48908092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggacgtcctttgtagcCgtgaccactcgtgcccctgg	12	14	0	1			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr19:48908092C>T	uc002pjc.3	+	3	655	c.567C>T	c.(565-567)GCC>GCT	p.A189A		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	189	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		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)	CCTTTGTAGCCGTGACCACTC	0.617													T	48908092	C	T	48908092	2	4	242	1	0	0	0	0	0	0	0	1	6782	639	23	1		1	GRIN2D	19	48908092	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	41314251	48908092	10220891	71	121610											
NLRP4	147945	broad.mit.edu	37	chr19	56369488	56369488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcggcttgaacgaaccCgattcggatctgtgtggtga	15	9	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr19:56369488C>T	uc002qmd.3	+	3	1151	c.729C>T	c.(727-729)CCC>CCT	p.P243P	NLRP4_uc002qmf.2_Silent_p.P168P|NLRP4_uc010etf.2_Silent_p.P74P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	243	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAACGAACCCGATTCGGATC	0.567													T	56369488	C	T	56369488	2	4	242	1	0	0	0	0	0	0	0	1	10479	639	23	1		1	NLRP4	19	56369488	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	7461396	56369488	2759495	72	121611											
BFSP1	631	broad.mit.edu	37	chr20	17475310	17475310	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgtgaccagcacgtgCcgctctttggtgtagagctc	11	14	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr20:17475310C>A	uc002wpo.2	-	8	1446	c.1407G>T	c.(1405-1407)CGG>CGT	p.R469R	BFSP1_uc002wpp.2_Silent_p.R344R|BFSP1_uc010zrn.1_Silent_p.R330R|BFSP1_uc010zro.1_Silent_p.R330R	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	469	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						CCAGCACGTGCCGCTCTTTGG	0.517													A	17475310	C	A	17475310	2	1	242	1	0	0	0	0	0	0	0	1	1415	726	26	5		5	BFSP1	20	17475310	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08		17475310	45550210	73	121612											
YWHAB	7529	broad.mit.edu	37	chr20	43530312	43530312	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgaagagagaaatctgctCtctgttgcctacaagaatgt	9	8	2	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr20:43530312C>T	uc002xmt.2	+	3	420	c.138C>T	c.(136-138)CTC>CTT	p.L46L	YWHAB_uc002xmu.2_Silent_p.L46L	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	46					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			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				GAAATCTGCTCTCTGTTGCCT	0.522													T	43530312	C	T	43530312	2	4	242	1	0	0	0	0	0	0	0	1	17498	900	32	4		4	YWHAB	20	43530312	Silent	SNP	C	TCGA-FP-7998-01A-11D-2201-08	26055002	43530312	19495208	74	121613											
CLTCL1	8218	broad.mit.edu	37	chr22	19222200	19222200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggttgcataattcacaatGttatcttcctcaacacaaac	4	10	3	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr22:19222200G>T	uc002zpb.2	-	7	1074	c.999C>A	c.(997-999)AAC>AAA	p.N333K	CLTCL1_uc011agv.1_Missense_Mutation_p.N333K|CLTCL1_uc011agw.1_Missense_Mutation_p.N333K	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	333	Globular terminal domain.				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			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					AATTCACAATGTTATCTTCCT	0.498			T	?	ALCL								T	19222200	G	T	19222200	3	4	242	1	0	0	0	0	1	0	0	0	3567	1368	48	5	4027	5	CLTCL1	22	19222200	Missense_Mutation	SNP	G	TCGA-FP-7998-01A-11D-2201-08		19222200	32082366	75	121614											
MYO18B	84700	broad.mit.edu	37	chr22	26222459	26222459	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggctgtggtctcactcAtcaacaggtaacggggcctt	12	11	3	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr22:26222459A>T	uc003abz.1	+	14	3029	c.2779A>T	c.(2779-2781)ATC>TTC	p.I927F	MYO18B_uc003aca.1_Missense_Mutation_p.I808F|MYO18B_uc010guy.1_Missense_Mutation_p.I808F|MYO18B_uc010guz.1_Missense_Mutation_p.I808F|MYO18B_uc011aka.1_Missense_Mutation_p.I81F|MYO18B_uc011akb.1_Missense_Mutation_p.I440F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	927	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGTCTCACTCATCAACAGGTA	0.507													T	26222459	A	T	26222459	3	4	242	1	0	0	0	0	1	0	0	0	10066	217	8	5	2829	5	MYO18B	22	26222459	Missense_Mutation	SNP	A	TCGA-FP-7998-01A-11D-2201-08	7000259	26222459	25082107	76	121615											
FAM123B	139285	broad.mit.edu	37	chrX	63412939	63412939	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaacctttgctccgTccccctccaaagaaactagg	6	16	0	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:63412939T>C	uc004dvo.2	-	2	501	c.228A>G	c.(226-228)GGA>GGG	p.G76G		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	76					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTTTGCTCCGTCCCCCTCCAA	0.537													C	63412939	T	C	63412939	2	2	242	1	0	0	0	0	0	0	0	1	5423	1654	58	3		3	FAM123B	23	63412939	Silent	SNP	T	TCGA-FP-7998-01A-11D-2201-08		63412939	91857621	77	121616											
IRS4	8471	broad.mit.edu	37	chrX	107977194	107977194	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagagccaccctgaggatttCtggggttttttggaattgca	12	7	1	2			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:107977194C>A	uc004eoc.2	-	1	2414	c.2381G>T	c.(2380-2382)AGA>ATA	p.R794I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	794	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTGAGGATTTCTGGGGTTTTT	0.473													A	107977194	C	A	107977194	3	1	242	1	0	0	0	0	1	0	0	0	7842	913	32	5	1396	5	IRS4	23	107977194	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	44564255	107977194	47293366	78	121617											
SAGE1	55511	broad.mit.edu	37	chrX	134992203	134992203	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccagatgctaccgtcactCacaatgtccatgaagagaag	8	11	2	3			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:134992203C>A	uc004ezh.2	+	15	1905	c.1738C>A	c.(1738-1740)CAC>AAC	p.H580N	SAGE1_uc010nry.1_Missense_Mutation_p.H549N|SAGE1_uc011mvv.1_Missense_Mutation_p.H204N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	580										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TACCGTCACTCACAATGTCCA	0.413													A	134992203	C	A	134992203	3	1	242	1	0	0	0	0	1	0	0	0	13809	826	29	5	1792	5	SAGE1	23	134992203	Missense_Mutation	SNP	C	TCGA-FP-7998-01A-11D-2201-08	27015009	134992203	20278357	79	121618											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:149639635A>T	uc004fee.1	+	3	1866	c.1790A>T	c.(1789-1791)CAG>CTG	p.Q597L	MAMLD1_uc011mxt.1_Missense_Mutation_p.Q559L|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q524L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.483													T	149639635	A	T	149639635	3	4	242	1	0	0	0	0	1	0	0	0	9208	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-FP-7998-01A-11D-2201-08	14647432	149639635	5630925	80	121619											
ARID1A	8289	broad.mit.edu	37	chr1	27099124	27099124	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccattgccaggcatgagGtaaggccaagagcaggggca	14	12	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:27099124G>A	uc001bmv.1	+	13	3912	c.3539_splice	c.e13+1	p.S1180_splice	ARID1A_uc001bmt.1_Splice_Site_p.R1180_splice|ARID1A_uc001bmu.1_Splice_Site_p.S1180_splice|ARID1A_uc001bmw.1_Splice_Site_p.S797_splice|ARID1A_uc001bmx.1_Splice_Site_p.R27_splice|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a						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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CAGGCATGAGGTAAGGCCAAG	0.572			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27099124	G	A	27099124	5	1	243	1	0	0	0	0	0	0	1	0	913	1275	44	4	3590	4	ARID1A	1	27099124	Splice_Site	SNP	G	TCGA-FP-8099-01A-11D-2340-08		27099124	222151497	1	121620											
C1orf87	127795	broad.mit.edu	37	chr1	60499178	60499178	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcagccagagaacgaGcgatcttcttttcgaaaact	12	9	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:60499178G>T	uc001czs.1	-	7	1091	c.999C>A	c.(997-999)CGC>CGA	p.R333R		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	333							calcium ion binding			ovary(1)|breast(1)	2						CAGAGAACGAGCGATCTTCTT	0.428													T	60499178	G	T	60499178	2	4	243	1	0	0	0	0	0	0	0	1	2064	958	34	5		5	C1orf87	1	60499178	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	33400054	60499178	188751443	2	121621											
LRRC39	127495	broad.mit.edu	37	chr1	100614640	100614640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtaaagtagttgaaccGttgacttggtgatctgaaac	11	5	1	4			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:100614640G>A	uc001dsw.1	-	10	1165	c.966C>T	c.(964-966)AAC>AAT	p.N322N	CCDC76_uc001dsv.2_3'UTR|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_3'UTR|LRRC39_uc001dsx.1_Silent_p.N322N|LRRC39_uc001dsy.1_3'UTR|LRRC39_uc001dsz.1_Silent_p.N322N	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	322										ovary(2)|skin(1)	3		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)		TAGTTGAACCGTTGACTTGGT	0.303													A	100614640	G	A	100614640	2	1	243	1	0	0	0	0	0	0	0	1	8995	1136	40	1		1	LRRC39	1	100614640	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	40115462	100614640	148635981	3	121622											
NTNG1	22854	broad.mit.edu	37	chr1	107867370	107867370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctggacctcgcctacGcaatatggcttccctctacg	8	14	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:107867370G>A	uc001dvh.3	+	3	1431	c.713G>A	c.(712-714)CGC>CAC	p.R238H	NTNG1_uc001dvf.3_Missense_Mutation_p.R238H|NTNG1_uc010out.1_Missense_Mutation_p.R238H|NTNG1_uc001dvc.3_Missense_Mutation_p.R238H|NTNG1_uc001dvd.1_Missense_Mutation_p.R238H	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	238	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CCTCGCCTACGCAATATGGCT	0.433													A	107867370	G	A	107867370	3	1	243	1	0	0	0	0	1	0	0	0	10704	1087	38	1	719	1	NTNG1	1	107867370	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	7252730	107867370	141383251	4	121623											
SPAG17	200162	broad.mit.edu	37	chr1	118624180	118624180	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcccagaaggtttcagtttCcctttttcatcaacctcaga	5	12	4	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:118624180C>T	uc001ehk.2	-	14	1916	c.1848G>A	c.(1846-1848)GGG>GGA	p.G616G		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	616						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		GTTTCAGTTTCCCTTTTTCAT	0.438													T	118624180	C	T	118624180	2	4	243	1	0	0	0	0	0	0	0	1	14979	842	30	4		4	SPAG17	1	118624180	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	10756810	118624180	130626441	5	121624											
BCL9	607	broad.mit.edu	37	chr1	147095750	147095750	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agccactttctcactccaatCagatgccctctccaaatgcc	4	17	3	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:147095750C>G	uc001epq.2	+	10	4011	c.3271C>G	c.(3271-3273)CAG>GAG	p.Q1091E	BCL9_uc010ozr.1_Missense_Mutation_p.Q1005E	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1091	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TCACTCCAATCAGATGCCCTC	0.537			T	IGH@|IGL@	B-ALL								G	147095750	C	G	147095750	3	3	243	1	0	0	0	0	1	0	0	0	1381	827	29	5	3297	5	BCL9	1	147095750	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	28471570	147095750	102154871	6	121625											
OR6Y1	391112	broad.mit.edu	37	chr1	158517100	158517100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatacatgagtttgggacGggcataggtgaaaagtgtca	15	5	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:158517100G>A	uc010pil.1	-	1	796	c.796C>T	c.(796-798)CGT>TGT	p.R266C		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGTTTGGGACGGGCATAGGTG	0.483													A	158517100	G	A	158517100	3	1	243	1	0	0	0	0	1	0	0	0	11213	1116	39	1	183	1	OR6Y1	1	158517100	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	11421350	158517100	90733521	7	121626											
CACNA1E	777	broad.mit.edu	37	chr1	181706750	181706750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcagcatcgccctggCggcagaggaccccgtcctga	13	16	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:181706750C>T	uc001gow.2	+	23	3677	c.3512C>T	c.(3511-3513)GCG>GTG	p.A1171V	CACNA1E_uc009wxs.2_Missense_Mutation_p.A1059V|CACNA1E_uc001gox.1_Missense_Mutation_p.A397V|CACNA1E_uc009wxt.2_Missense_Mutation_p.A397V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1171	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ATCGCCCTGGCGGCAGAGGAC	0.622													T	181706750	C	T	181706750	3	4	243	1	0	0	0	0	1	0	0	0	2542	768	27	1	3602	1	CACNA1E	1	181706750	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	23189650	181706750	67543871	8	121627											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185270181	185270181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcataggagacatgggctttTcgattagctcatcttgttgc	11	8	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:185270181T>C	uc001grl.2	-	10	1666	c.1043A>G	c.(1042-1044)GAA>GGA	p.E348G	IVNS1ABP_uc001gri.2_Missense_Mutation_p.E8G|IVNS1ABP_uc001grj.2_Missense_Mutation_p.E8G|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.E130G|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.E8G	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	348	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						CATGGGCTTTTCGATTAGCTC	0.438													C	185270181	T	C	185270181	3	2	243	1	0	0	0	0	1	0	0	0	7930	1783	62	3	909	3	IVNS1ABP	1	185270181	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	3563431	185270181	63980440	9	121628											
SIPA1L2	57568	broad.mit.edu	37	chr1	232615460	232615460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtggtatagagagagtgCgtgcccgtggaatcagctga	15	6	1	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:232615460C>T	uc001hvg.2	-	5	2156	c.1998G>A	c.(1996-1998)ACG>ACA	p.T666T		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	666	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGAGAGTGCGTGCCCGTGG	0.433													T	232615460	C	T	232615460	2	4	243	1	0	0	0	0	0	0	0	1	14330	755	27	1		1	SIPA1L2	1	232615460	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	47345279	232615460	16635161	10	121629											
OR2G6	391211	broad.mit.edu	37	chr1	248685576	248685576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagtctttctaattgtccCggtgttactcatcttagtct	7	9	5	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr1:248685576C>T	uc001ien.1	+	1	629	c.629C>T	c.(628-630)CCG>CTG	p.P210L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			CTAATTGTCCCGGTGTTACTC	0.478													T	248685576	C	T	248685576	3	4	243	1	0	0	0	0	1	0	0	0	11000	652	23	1	631	1	OR2G6	1	248685576	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	16070116	248685576	565045	11	121630											
GREB1	9687	broad.mit.edu	37	chr2	11750887	11750887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggccgccctgatggccGtaagcggcctcccgcagatg	14	16	0	2	rs139446036	by1000genomes	TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:11750887G>A	uc002rbk.1	+	18	3040	c.2740G>A	c.(2740-2742)GTA>ATA	p.V914I	GREB1_uc002rbo.1_Missense_Mutation_p.V548I|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	914						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGATGGCCGTAAGCGGCCT	0.632													A	11750887	G	A	11750887	3	1	243	1	0	0	0	0	1	0	0	0	6760	1145	40	1	2914	1	GREB1	2	11750887	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		11750887	231448486	12	121631											
OTOF	9381	broad.mit.edu	37	chr2	26684574	26684574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgcacccaggaagtcGtcagcggagaagtggtccgc	14	12	2	1	rs145894536	byFrequency	TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:26684574G>A	uc002rhk.2	-	43	5650	c.5523C>T	c.(5521-5523)GAC>GAT	p.D1841D	OTOF_uc010yla.1_Silent_p.D571D|OTOF_uc002rhh.2_Silent_p.D1074D|OTOF_uc002rhi.2_Silent_p.D1151D|OTOF_uc002rhj.2_Silent_p.D1074D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1841	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGAAGTCGTCAGCGGAGA	0.632													A	26684574	G	A	26684574	2	1	243	1	0	0	0	0	0	0	0	1	11303	1136	40	1		1	OTOF	2	26684574	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	14933687	26684574	216514799	13	121632											
OTOF	9381	broad.mit.edu	37	chr2	26702140	26702140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggccctgaccagcttgtCggcaatgtggtccatgatgt	12	12	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:26702140C>T	uc002rhk.2	-	18	2333	c.2206G>A	c.(2206-2208)GAC>AAC	p.D736N	OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	736	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGCTTGTCGGCAATGTGG	0.642													T	26702140	C	T	26702140	3	4	243	1	0	0	0	0	1	0	0	0	11303	884	31	1	4232	1	OTOF	2	26702140	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	17566	26702140	216497233	14	121633											
OTOF	9381	broad.mit.edu	37	chr2	26712138	26712138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaccagggtgccactgCgcagcaggttcttggagtga	14	12	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:26712138C>T	uc002rhk.2	-	11	1113	c.986G>A	c.(985-987)CGC>CAC	p.R329H		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	329	Cytoplasmic (Potential).|C2 1.				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCACTGCGCAGCAGGTT	0.617													T	26712138	C	T	26712138	3	4	243	1	0	0	0	0	1	0	0	0	11303	768	27	1	5480	1	OTOF	2	26712138	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	9998	26712138	216487235	15	121634											
XDH	7498	broad.mit.edu	37	chr2	31595105	31595105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactcacttgatcttggcGtgggcccgggtgctggtgac	15	11	3	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:31595105G>A	uc002rnv.1	-	17	1924	c.1845C>T	c.(1843-1845)CAC>CAT	p.H615H		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	615					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	TGATCTTGGCGTGGGCCCGGG	0.617													A	31595105	G	A	31595105	2	1	243	1	0	0	0	0	0	0	0	1	17423	1136	40	1		1	XDH	2	31595105	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	4882967	31595105	211604268	16	121635											
MSH2	4436	broad.mit.edu	37	chr2	47639634	47639634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttatcaggacctcaacCggttgttgaaaggcaaaaag	9	8	2	1	rs138857091		TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:47639634C>T	uc002rvy.1	+	4	795	c.727C>T	c.(727-729)CGG>TGG	p.R243W	MSH2_uc010yoh.1_Missense_Mutation_p.R177W|MSH2_uc002rvz.2_Missense_Mutation_p.R243W|MSH2_uc010fbg.2_Missense_Mutation_p.R103W|MSH2_uc010fbf.1_Missense_Mutation_p.R150W	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	243					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			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCTCAACCGGTTGTTGAA	0.338			D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				T	47639634	C	T	47639634	3	4	243	1	0	0	0	0	1	0	0	0	9870	643	23	1	741	1	MSH2	2	47639634	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	16044529	47639634	195559739	17	121636											
LRRTM1	347730	broad.mit.edu	37	chr2	80530432	80530432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcacaaactggatggcGttggcccgcatatgcagcgt	14	11	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:80530432G>A	uc002sok.1	-	2	783	c.513C>T	c.(511-513)AAC>AAT	p.N171N	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	171	LRR 4.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						ACTGGATGGCGTTGGCCCGCA	0.612										HNSCC(69;0.2)			A	80530432	G	A	80530432	2	1	243	1	0	0	0	0	0	0	0	1	9039	1136	40	1		1	LRRTM1	2	80530432	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	32890798	80530432	162668941	18	121637											
GPR45	11250	broad.mit.edu	37	chr2	105859311	105859311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaatcaaaaaattccgCgaggcctgcatagagttgct	11	8	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:105859311C>T	uc002tco.1	+	1	1112	c.996C>T	c.(994-996)CGC>CGT	p.R332R		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	332	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						AAAAATTCCGCGAGGCCTGCA	0.552													T	105859311	C	T	105859311	2	4	243	1	0	0	0	0	0	0	0	1	6696	755	27	1		1	GPR45	2	105859311	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	25328879	105859311	137340062	19	121638											
NEB	4703	broad.mit.edu	37	chr2	152521048	152521048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctagaggctcttgcagcCtttattgcaatggcatcagg	10	10	3	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:152521048C>T	uc010fnx.2	-	44	5609	c.5418G>A	c.(5416-5418)AAG>AAA	p.K1806K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1806	Nebulin 47.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTGCAGCCTTTATTGCAA	0.428													T	152521048	C	T	152521048	2	4	243	1	0	0	0	0	0	0	0	1	10302	680	24	4		4	NEB	2	152521048	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	46661737	152521048	90678325	20	121639											
TTN	7273	broad.mit.edu	37	chr2	179472320	179472320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttttgtaggtacagggcGaccagtcaccacagctggaa	11	10	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:179472320G>A	uc010zfg.1	-	226	45615	c.45391C>T	c.(45391-45393)CGC>TGC	p.R15131C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8826C|TTN_uc010zfi.1_Missense_Mutation_p.R8759C|TTN_uc010zfj.1_Missense_Mutation_p.R8634C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16058							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8634C(1)|p.R15131C(1)		ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACAGGGCGACCAGTCACC	0.443													A	179472320	G	A	179472320	3	1	243	1	0	0	0	0	1	0	0	0	16732	1058	37	1	54942	1	TTN	2	179472320	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	26951272	179472320	63727053	21	121640											
TTN	7273	broad.mit.edu	37	chr2	179483531	179483531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccattgtcagaggcttGccaacatcaaccacaaggtc	7	14	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:179483531G>A	uc010zfg.1	-	200	39266	c.39042C>T	c.(39040-39042)GGC>GGT	p.G13014G	TTN_uc010zfh.1_Silent_p.G6709G|TTN_uc010zfi.1_Silent_p.G6642G|TTN_uc010zfj.1_Silent_p.G6517G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13941							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGAGGCTTGCCAACATCAA	0.413													A	179483531	G	A	179483531	2	1	243	1	0	0	0	0	0	0	0	1	16732	1306	46	2		2	TTN	2	179483531	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	11211	179483531	63715842	22	121641											
TTN	7273	broad.mit.edu	37	chr2	179501304	179501304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccgtctttcatccaggttGtaattgcagtggaaggggag	13	7	2	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:179501304G>T	uc010zfg.1	-	174	33670	c.33446C>A	c.(33445-33447)ACA>AAA	p.T11149K	TTN_uc010zfh.1_Missense_Mutation_p.T4844K|TTN_uc010zfi.1_Missense_Mutation_p.T4777K|TTN_uc010zfj.1_Missense_Mutation_p.T4652K|TTN_uc010fre.1_Missense_Mutation_p.T1010K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12076							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCAGGTTGTAATTGCAGT	0.413													T	179501304	G	T	179501304	3	4	243	1	0	0	0	0	1	0	0	0	16732	1377	48	5	67095	5	TTN	2	179501304	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	17773	179501304	63698069	23	121642											
TNS1	7145	broad.mit.edu	37	chr2	218700881	218700881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccatcactggccgcccGcctccgcagaggggctgggg	15	16	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:218700881G>A	uc002vgt.2	-	18	3084	c.2686C>T	c.(2686-2688)CGG>TGG	p.R896W	TNS1_uc002vgr.2_Missense_Mutation_p.R896W|TNS1_uc002vgs.2_Missense_Mutation_p.R896W|TNS1_uc010zjv.1_Missense_Mutation_p.R896W	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	896						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		CTGGCCGCCCGCCTCCGCAGA	0.617													A	218700881	G	A	218700881	3	1	243	1	0	0	0	0	1	0	0	0	16340	1086	38	1	2585	1	TNS1	2	218700881	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	39199577	218700881	24498492	24	121643											
STK36	27148	broad.mit.edu	37	chr2	219558685	219558685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcccttcttgtctttcGgctccaaaacctgccttgtg	6	16	3	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:219558685G>A	uc002viu.2	+	19	2581	c.2315G>A	c.(2314-2316)CGG>CAG	p.R772Q	STK36_uc002viv.2_Missense_Mutation_p.R772Q|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	772					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			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		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)		CTTGTCTTTCGGCTCCAAAAC	0.438													A	219558685	G	A	219558685	3	1	243	1	0	0	0	0	1	0	0	0	15301	1116	39	1	2385	1	STK36	2	219558685	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	857804	219558685	23640688	25	121644											
DOCK10	55619	broad.mit.edu	37	chr2	225669928	225669928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaattctctttaccgtacGaaatcgttttcataatgtga	6	7	2	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:225669928G>A	uc010fwz.1	-	36	4285	c.4046C>T	c.(4045-4047)TCG>TTG	p.S1349L	DOCK10_uc002vob.2_Missense_Mutation_p.S1343L|DOCK10_uc002voa.2_Missense_Mutation_p.S5L|DOCK10_uc002voc.2_Missense_Mutation_p.S203L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1349							GTP binding			ovary(2)	2		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													A	225669928	G	A	225669928	3	1	243	1	0	0	0	0	1	0	0	0	4685	1059	37	1	2598	1	DOCK10	2	225669928	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	6111243	225669928	17529445	26	121645											
COL6A3	1293	broad.mit.edu	37	chr2	238259791	238259791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcttcccagtggaccGgttctgcctcgttctccagg	9	15	3	0	rs116541926	by1000genomes	TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr2:238259791G>A	uc002vwl.2	-	27	7083	c.6798C>T	c.(6796-6798)ACC>ACT	p.T2266T	COL6A3_uc002vwo.2_Silent_p.T2060T|COL6A3_uc010znj.1_Silent_p.T1659T|COL6A3_uc002vwp.1_Silent_p.T87T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2266	Triple-helical region.|Collagen-like 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CCAGTGGACCGGTTCTGCCTC	0.577													A	238259791	G	A	238259791	2	1	243	1	0	0	0	0	0	0	0	1	3701	1103	39	1		1	COL6A3	2	238259791	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	12589863	238259791	4939582	27	121646											
SEMA3F	6405	broad.mit.edu	37	chr3	50224175	50224175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcctggtgaccggcgccGagaggtgagttcctgcgccc	15	13	0	4			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr3:50224175G>A	uc003cyj.2	+	18	2141	c.1943G>A	c.(1942-1944)CGA>CAA	p.R648Q	SEMA3F_uc003cyk.2_Missense_Mutation_p.R617Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	648	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GACCGGCGCCGAGAGGTGAGT	0.612													A	50224175	G	A	50224175	3	1	243	1	0	0	0	0	1	0	0	0	14029	1058	37	1	2009	1	SEMA3F	3	50224175	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		50224175	147798255	28	121647											
FLNB	2317	broad.mit.edu	37	chr3	58064475	58064475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgggaatcctgggacccGcagaagcctgtggataatgc	14	10	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr3:58064475G>A	uc003djj.2	+	3	738	c.573G>A	c.(571-573)CCG>CCA	p.P191P	FLNB_uc010hne.2_Silent_p.P191P|FLNB_uc003djk.2_Silent_p.P191P|FLNB_uc010hnf.2_Silent_p.P191P|FLNB_uc003djl.2_Silent_p.P22P|FLNB_uc003djm.2_Silent_p.P22P	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	191	CH 2.|Actin-binding.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGACCCGCAGAAGCCTG	0.517													A	58064475	G	A	58064475	2	1	243	1	0	0	0	0	0	0	0	1	5934	1074	38	1		1	FLNB	3	58064475	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	7840300	58064475	139957955	29	121648											
PLCXD2	257068	broad.mit.edu	37	chr3	111432935	111432935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgaagaccattgccCggggcttggttgggggcctc	16	11	0	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr3:111432935C>T	uc003dya.2	+	3	1412	c.826C>T	c.(826-828)CGG>TGG	p.R276W	PLCXD2_uc003dyb.2_Missense_Mutation_p.R276W|PLCXD2_uc003dxz.2_Missense_Mutation_p.R276W	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	276					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(1)	1						GACCATTGCCCGGGGCTTGGT	0.502													T	111432935	C	T	111432935	3	4	243	1	0	0	0	0	1	0	0	0	12042	643	23	1	836	1	PLCXD2	3	111432935	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	53368460	111432935	86589495	30	121649											
CHST13	166012	broad.mit.edu	37	chr3	126261238	126261238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcgtgctgggcctggcGggcgcatccgacctgagctt	15	14	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr3:126261238G>A	uc003eja.2	+	3	843	c.843G>A	c.(841-843)GCG>GCA	p.A281A		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	281	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		TGGGCCTGGCGGGCGCATCCG	0.607													A	126261238	G	A	126261238	2	1	243	1	0	0	0	0	0	0	0	1	3401	1103	39	1		1	CHST13	3	126261238	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	14828303	126261238	71761192	31	121650											
CLSTN2	64084	broad.mit.edu	37	chr3	140281655	140281655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtctcttggcacaggtGtgggctccatgagccgctat	14	10	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr3:140281655G>A	uc003etn.2	+	14	2405	c.2215G>A	c.(2215-2217)GTG>ATG	p.V739M		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	739	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TGGCACAGGTGTGGGCTCCAT	0.572										HNSCC(16;0.037)			A	140281655	G	A	140281655	3	1	243	1	0	0	0	0	1	0	0	0	3562	1377	48	4	2269	4	CLSTN2	3	140281655	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	14020417	140281655	57740775	32	121651											
ACOX3	8310	broad.mit.edu	37	chr4	8401309	8401309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctgacataggtgccctCgggggtgacgtctcccatcc	15	13	1	2	rs142830697		TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr4:8401309C>T	uc010idk.2	-	8	992	c.847G>A	c.(847-849)GAG>AAG	p.E283K	ACOX3_uc003glc.3_Missense_Mutation_p.E283K|ACOX3_uc003gld.3_Missense_Mutation_p.E283K|ACOX3_uc003gle.1_Missense_Mutation_p.E188K	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	283					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			central_nervous_system(1)	1						TAGGTGCCCTCGGGGGTGACG	0.607													T	8401309	C	T	8401309	3	4	243	1	0	0	0	0	1	0	0	0	160	893	31	1	1299	1	ACOX3	4	8401309	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08		8401309	182752967	33	121652											
DRD5	1816	broad.mit.edu	37	chr4	9783986	9783986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttactggccctttggagcGttctgcgacgtctgggtggc	16	10	2	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr4:9783986G>A	uc003gmb.3	+	1	729	c.333G>A	c.(331-333)GCG>GCA	p.A111A		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	111	Extracellular (Potential).				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				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTTGGAGCGTTCTGCGACG	0.617													A	9783986	G	A	9783986	2	1	243	1	0	0	0	0	0	0	0	1	4760	1132	40	1		1	DRD5	4	9783986	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	1382677	9783986	181370290	34	121653											
GRID2	2895	broad.mit.edu	37	chr4	93225854	93225854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtccgtctggtggtctcGaacctgggactcggcgaatg	14	10	2	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr4:93225854G>A	uc011cdt.1	+	1	305	c.47G>A	c.(46-48)CGA>CAA	p.R16Q	GRID2_uc010ikx.2_Missense_Mutation_p.R16Q|GRID2_uc011cdu.1_Missense_Mutation_p.R16Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	16					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			ovary(3)|skin(2)|large_intestine(1)	6		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)	TGGTGGTCTCGAACCTGGGAC	0.443													A	93225854	G	A	93225854	3	1	243	1	0	0	0	0	1	0	0	0	6772	1058	37	1	49	1	GRID2	4	93225854	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	83441868	93225854	97928422	35	121654											
ANK2	287	broad.mit.edu	37	chr4	114254239	114254239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggagatccctcactttgCggcccttcgaggaaaggaaa	12	11	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr4:114254239C>T	uc003ibe.3	+	29	3354	c.3254C>T	c.(3253-3255)GCG>GTG	p.A1085V	ANK2_uc003ibd.3_Missense_Mutation_p.A1076V|ANK2_uc003ibf.3_Missense_Mutation_p.A1085V|ANK2_uc011cgc.1_Missense_Mutation_p.A261V|ANK2_uc003ibg.3_Missense_Mutation_p.A80V|ANK2_uc003ibc.2_Missense_Mutation_p.A1061V|ANK2_uc011cgb.1_Missense_Mutation_p.A1100V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1052	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTCACTTTGCGGCCCTTCGA	0.502													T	114254239	C	T	114254239	3	4	243	1	0	0	0	0	1	0	0	0	621	768	27	1	3433	1	ANK2	4	114254239	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	21028385	114254239	76900037	36	121655											
KIAA1109	84162	broad.mit.edu	37	chr4	123252601	123252601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacagagagaaatattgaCtttgaacttgatatacgggt	10	5	0	5			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr4:123252601C>T	uc003ieh.2	+	65	11415	c.11370C>T	c.(11368-11370)GAC>GAT	p.D3790D	KIAA1109_uc003iem.2_Silent_p.D181D	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3790					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GAAATATTGACTTTGAACTTG	0.408													T	123252601	C	T	123252601	2	4	243	1	0	0	0	0	0	0	0	1	8208	564	20	4		4	KIAA1109	4	123252601	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	8998362	123252601	67901675	37	121656											
IRX1	79192	broad.mit.edu	37	chr5	3600242	3600242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcgctccttcctgggcGttggcgctccccacgccgcg	12	18	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:3600242G>A	uc003jde.2	+	2	1232	c.1180G>A	c.(1180-1182)GTT>ATT	p.V394I		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	394						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CTTCCTGGGCGTTGGCGCTCC	0.657													A	3600242	G	A	3600242	3	1	243	1	0	0	0	0	1	0	0	0	7843	1145	40	1	1186	1	IRX1	5	3600242	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		3600242	177315018	38	121657											
IL6ST	3572	broad.mit.edu	37	chr5	55237554	55237554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatgatttcagatcttctgGaaaaggctttttgtcatttg	8	6	4	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:55237554G>A	uc003jqq.2	-	17	2368	c.2113C>T	c.(2113-2115)CCA>TCA	p.P705S	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Missense_Mutation_p.P644S|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Missense_Mutation_p.P24S|IL6ST_uc011cqk.1_Missense_Mutation_p.P416S|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	705	Cytoplasmic (Potential).				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGATCTTCTGGAAAAGGCTTT	0.358			O		hepatocellular ca								A	55237554	G	A	55237554	3	1	243	1	0	0	0	0	1	0	0	0	7703	1174	41	4	647	4	IL6ST	5	55237554	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	51637312	55237554	125677706	39	121658											
VCAN	1462	broad.mit.edu	37	chr5	82836187	82836187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcaaccagacaagaaagCagcaccacatttgtttctga	8	11	1	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:82836187C>A	uc003kii.3	+	8	7721	c.7365C>A	c.(7363-7365)AGC>AGA	p.S2455R	VCAN_uc003kij.3_Missense_Mutation_p.S1468R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1119R	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2455	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GACAAGAAAGCAGCACCACAT	0.448													A	82836187	C	A	82836187	3	1	243	1	0	0	0	0	1	0	0	0	17135	709	25	5	7391	5	VCAN	5	82836187	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	27598633	82836187	98079073	40	121659											
VCAN	1462	broad.mit.edu	37	chr5	82836404	82836404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaccgtttcagggaattcGaggattccaccttaaaacct	8	10	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:82836404G>A	uc003kii.3	+	8	7938	c.7582G>A	c.(7582-7584)GAG>AAG	p.E2528K	VCAN_uc003kij.3_Missense_Mutation_p.E1541K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1192K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2528	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		CAGGGAATTCGAGGATTCCAC	0.408													A	82836404	G	A	82836404	3	1	243	1	0	0	0	0	1	0	0	0	17135	1059	37	1	7608	1	VCAN	5	82836404	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	217	82836404	98078856	41	121660											
DMXL1	1657	broad.mit.edu	37	chr5	118533640	118533640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttactggaacctacaaaCactcctttcaagtaggtttt	6	10	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:118533640C>T	uc003ksd.2	+	32	7915	c.7734C>T	c.(7732-7734)AAC>AAT	p.N2578N	DMXL1_uc010jcl.1_Silent_p.N2578N	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2578										ovary(2)	2		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)		AACCTACAAACACTCCTTTCA	0.308													T	118533640	C	T	118533640	2	4	243	1	0	0	0	0	0	0	0	1	4594	477	17	4		4	DMXL1	5	118533640	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	35697236	118533640	62381620	42	121661											
ZNF474	133923	broad.mit.edu	37	chr5	121488536	121488536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaccaaatcaagctcagcTtgtgttctgcccacattgta	9	11	3	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:121488536T>C	uc003ksv.2	+	2	1227	c.851T>C	c.(850-852)CTT>CCT	p.L284P		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	284						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CAAGCTCAGCTTGTGTTCTGC	0.527													C	121488536	T	C	121488536	3	2	243	1	0	0	0	0	1	0	0	0	17929	1609	56	3	853	3	ZNF474	5	121488536	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	2954896	121488536	59426724	43	121662											
NEUROG1	4762	broad.mit.edu	37	chr5	134871035	134871035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagggcagcacgctgcGcagtgcgtccagggccgcgt	17	13	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:134871035G>A	uc003lax.2	-	1	605	c.346C>T	c.(346-348)CGC>TGC	p.R116C		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	116	Helix-loop-helix motif.				positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCACGCTGCGCAGTGCGTCC	0.657													A	134871035	G	A	134871035	3	1	243	1	0	0	0	0	1	0	0	0	10352	1087	38	1	371	1	NEUROG1	5	134871035	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	13382499	134871035	46044225	44	121663											
PCDHB3	56132	broad.mit.edu	37	chr5	140482078	140482078	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacggagcccgggctgttCggcgtgtgggcgcacaatgg	18	12	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:140482078C>T	uc003lio.2	+	1	1845	c.1845C>T	c.(1843-1845)TTC>TTT	p.F615F	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	615	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCTGTTCGGCGTGTGGG	0.692													T	140482078	C	T	140482078	2	4	243	1	0	0	0	0	0	0	0	1	11543	883	31	1		1	PCDHB3	5	140482078	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	5611043	140482078	40433182	45	121664											
C1QTNF2	114898	broad.mit.edu	37	chr5	159776631	159776631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggggcctgggaggcctggCtcccccttcttgcccttggg	15	15	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr5:159776631C>A	uc003lyd.2	-	3	541	c.537G>T	c.(535-537)GAG>GAT	p.E179D		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	134	Collagen-like.					collagen				skin(1)	1	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)			GGAGGCCTGGCTCCCCCTTCT	0.677													A	159776631	C	A	159776631	3	1	243	1	0	0	0	0	1	0	0	0	1963	796	28	5	459	5	C1QTNF2	5	159776631	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	19294553	159776631	21138629	46	121665											
RNF182	221687	broad.mit.edu	37	chr6	13977379	13977379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctcctgaagacactgCggagtctcaggcctctgatg	10	13	3	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr6:13977379C>T	uc003nbe.2	+	3	447	c.29C>T	c.(28-30)GCG>GTG	p.A10V	RNF182_uc003nbf.2_Missense_Mutation_p.A10V|RNF182_uc003nbg.2_Missense_Mutation_p.A10V	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	10						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GAAGACACTGCGGAGTCTCAG	0.468													T	13977379	C	T	13977379	3	4	243	1	0	0	0	0	1	0	0	0	13466	768	27	1	31	1	RNF182	6	13977379	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08		13977379	157137688	47	121666											
BTN1A1	696	broad.mit.edu	37	chr6	26501921	26501921	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgcgagcgccgagcacttGgagctacgctggttccgaaa	13	12	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr6:26501921G>T	uc003nif.3	+	2	203	c.183G>T	c.(181-183)TTG>TTT	p.L61F		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	61	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						CCGAGCACTTGGAGCTACGCT	0.677													T	26501921	G	T	26501921	3	4	243	1	0	0	0	0	1	0	0	0	1559	1339	47	5	189	5	BTN1A1	6	26501921	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	12524542	26501921	144613146	48	121667											
SCAND3	114821	broad.mit.edu	37	chr6	28543893	28543893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccatgctttgagacatcaTggaaaaccacaaaaatgacc	6	11	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr6:28543893T>C	uc003nlo.2	-	3	1207	c.589A>G	c.(589-591)ATG>GTG	p.M197V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	197					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGAGACATCATGGAAAACCAC	0.333													C	28543893	T	C	28543893	3	2	243	1	0	0	0	0	1	0	0	0	13876	1464	51	3	3396	3	SCAND3	6	28543893	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	2041972	28543893	142571174	49	121668											
GRM4	2914	broad.mit.edu	37	chr6	34004261	34004261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaccctgtgcaaggctcGcagtgccagcagcaaggcat	13	12	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr6:34004261G>A	uc003oir.3	-	8	1796	c.1626C>T	c.(1624-1626)TGC>TGT	p.C542C	GRM4_uc011dsn.1_Silent_p.C495C|GRM4_uc010jvh.2_Silent_p.C542C|GRM4_uc010jvi.2_Silent_p.C234C|GRM4_uc003oio.2_Silent_p.C234C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.C402C|GRM4_uc003oiq.2_Silent_p.C409C|GRM4_uc011dsm.1_Silent_p.C373C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	542	Extracellular (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TGCAAGGCTCGCAGTGCCAGC	0.657													A	34004261	G	A	34004261	2	1	243	1	0	0	0	0	0	0	0	1	6799	1079	38	1		1	GRM4	6	34004261	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	5460368	34004261	137110806	50	121669											
SYNE1	23345	broad.mit.edu	37	chr6	152563500	152563500	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtagggccctctcatactGactcttgagtgtaaggttct	10	9	3	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr6:152563500G>A	uc010kiw.2	-	107	20370	c.19768C>T	c.(19768-19770)CAG>TAG	p.Q6590*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q1114*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q1114*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q6519*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q6590*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6590	Potential.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCATACTGACTCTTGAGT	0.478										HNSCC(10;0.0054)			A	152563500	G	A	152563500	4	1	243	1	0	0	0	0	0	1	0	0	15442	1299	45	4	6858	4	SYNE1	6	152563500	Nonsense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	118559239	152563500	18551567	51	121670											
MYCT1	80177	broad.mit.edu	37	chr6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcccacagtctgagccGtcctgactactggtccagta	8	15	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr6:153043291G>A	uc003qpd.3	+	2	619	c.611G>A	c.(610-612)CGT>CAT	p.R204H	MYCT1_uc010kjc.1_Missense_Mutation_p.R156H|MYCT1_uc003qpc.3_Missense_Mutation_p.R204H	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532													A	153043291	G	A	153043291	3	1	243	1	0	0	0	0	1	0	0	0	10022	1145	40	1	617	1	MYCT1	6	153043291	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	479791	153043291	18071776	52	121671											
FNDC1	84624	broad.mit.edu	37	chr6	159677562	159677562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccattttcaggttacttGgtttacagtgcatcctatga	7	8	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr6:159677562G>T	uc010kjv.2	+	18	5273	c.5073G>T	c.(5071-5073)TTG>TTT	p.L1691F		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1691	Fibronectin type-III 5.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		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)		CAGGTTACTTGGTTTACAGTG	0.458													T	159677562	G	T	159677562	3	4	243	1	0	0	0	0	1	0	0	0	5968	1339	47	5	5143	5	FNDC1	6	159677562	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	6634271	159677562	11437505	53	121672											
POM121	9883	broad.mit.edu	37	chr7	72418975	72418975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagggtcttccacggagagGacaggcatcttcctttccca	10	14	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr7:72418975G>A	uc010lam.1	+	16	4007	c.2966G>A	c.(2965-2967)GGA>GAA	p.G989E	NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_Missense_Mutation_p.S275F|NSUN5P2_uc003twn.2_Missense_Mutation_p.S299F|NSUN5P2_uc003two.2_Missense_Mutation_p.S299F|NSUN5P2_uc003twq.2_3'UTR|NSUN5P2_uc010lan.1_3'UTR|NSUN5P2_uc003twp.2_3'UTR	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	Error:Variant_position_missing_in_Q96HA1_after_alignment					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CCACGGAGAGGACAGGCATCT	0.572													A	72418975	G	A	72418975	3	1	243	1	0	0	0	0	1	0	0	0	12239	1189	41	4		4	POM121	7	72418975	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		72418975	86719688	54	121673											
MAGI2	9863	broad.mit.edu	37	chr7	77789454	77789454	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgcaggctgtgggaggcGaagccttcagggggagaggc	20	8	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr7:77789454G>A	uc003ugx.2	-	16	2987	c.2733C>T	c.(2731-2733)TTC>TTT	p.F911F	MAGI2_uc003ugy.2_Silent_p.F897F|MAGI2_uc010ldx.1_Silent_p.F504F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	911						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGTGGGAGGCGAAGCCTTCAG	0.577													A	77789454	G	A	77789454	2	1	243	1	0	0	0	0	0	0	0	1	9191	1049	37	1		1	MAGI2	7	77789454	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	5370479	77789454	81349209	55	121674											
SEMA3C	10512	broad.mit.edu	37	chr7	80432050	80432050	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagcctcgcctttaagaAagtggtccacttgttgacaa	8	12	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr7:80432050A>C	uc003uhj.2	-	9	1409	c.847T>G	c.(847-849)TTC>GTC	p.F283V	SEMA3C_uc011kgw.1_Missense_Mutation_p.F301V|SEMA3C_uc011kgx.1_Missense_Mutation_p.F135V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	283	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						GCCTTTAAGAAAGTGGTCCAC	0.393													C	80432050	A	C	80432050	3	2	243	1	0	0	0	0	1	0	0	0	14026	14	1	5	1448	5	SEMA3C	7	80432050	Missense_Mutation	SNP	A	TCGA-FP-8099-01A-11D-2340-08	2642596	80432050	78706613	56	121675											
RELN	5649	broad.mit.edu	37	chr7	103234184	103234184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatctcgagttactgcaaatCgatctccatctgattttcca	5	11	3	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr7:103234184C>A	uc003vca.2	-	27	4017	c.3857G>T	c.(3856-3858)CGA>CTA	p.R1286L	RELN_uc010liz.2_Missense_Mutation_p.R1286L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1286					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACTGCAAATCGATCTCCATC	0.403													A	103234184	C	A	103234184	3	1	243	1	0	0	0	0	1	0	0	0	13220	884	31	5	6681	5	RELN	7	103234184	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	22802134	103234184	55904479	57	121676											
SLC26A4	5172	broad.mit.edu	37	chr7	107334909	107334909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccctggggaagcttcTggaacccttgcagaaggtat	12	10	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr7:107334909T>C	uc003vep.2	+	11	1549	c.1325T>C	c.(1324-1326)CTG>CCG	p.L442P	SLC26A4_uc011kmb.1_Missense_Mutation_p.L29P|SLC26A4_uc011kmc.1_Intron|SLC26A4_uc011kmd.1_Missense_Mutation_p.L11P	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	442	Helical; (Potential).				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			ovary(3)|central_nervous_system(2)|skin(2)	7						GGGAAGCTTCTGGAACCCTTG	0.458									Pendred_syndrome				C	107334909	T	C	107334909	3	2	243	1	0	0	0	0	1	0	0	0	14519	1580	55	3	1363	3	SLC26A4	7	107334909	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	4100725	107334909	51803754	58	121677											
FLNC	2318	broad.mit.edu	37	chr7	128494556	128494556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagggcgaggacagcGcctacagcgtgcgctttgtg	16	11	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr7:128494556G>A	uc003vnz.3	+	41	7026	c.6817G>A	c.(6817-6819)GCC>ACC	p.A2273T	FLNC_uc003voa.3_Missense_Mutation_p.A2240T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2273	Filamin 20.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CGAGGACAGCGCCTACAGCGT	0.632													A	128494556	G	A	128494556	3	1	243	1	0	0	0	0	1	0	0	0	5935	1087	38	1	6979	1	FLNC	7	128494556	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	21159647	128494556	30644107	59	121678											
MAK16	84549	broad.mit.edu	37	chr8	33353133	33353133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagactgaaacaagataCggtgagaaagccattagctt	12	6	0	4	rs150362163		TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr8:33353133C>T	uc003xjj.2	+	7	561	c.521C>T	c.(520-522)ACG>ATG	p.T174M	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	174						nucleolus				ovary(1)	1						AAACAAGATACGGTGAGAAAG	0.343													T	33353133	C	T	33353133	3	4	243	1	0	0	0	0	1	0	0	0	9198	550	19	1	547	1	MAK16	8	33353133	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08		33353133	113010889	60	121679											
GRHL2	79977	broad.mit.edu	37	chr8	102570941	102570941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaacagactcagtatgaCgtgccctcgctggccaccca	9	14	1	3	rs144668624		TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr8:102570941C>T	uc010mbu.2	+	4	909	c.579C>T	c.(577-579)GAC>GAT	p.D193D	GRHL2_uc011lhi.1_Silent_p.D193D	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	193						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	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)			CTCAGTATGACGTGCCCTCGC	0.567													T	102570941	C	T	102570941	2	4	243	1	0	0	0	0	0	0	0	1	6764	535	19	1		1	GRHL2	8	102570941	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	69217808	102570941	43793081	61	121680											
SYBU	55638	broad.mit.edu	37	chr8	110588230	110588230	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctgggacttaagctccacGatttcactttccctagagtg	9	11	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr8:110588230G>T	uc003ynj.3	-	7	1060	c.897C>A	c.(895-897)ATC>ATA	p.I299I	SYBU_uc003yni.3_Silent_p.I296I|SYBU_uc003ynk.3_Silent_p.I180I|SYBU_uc010mco.2_Silent_p.I298I|SYBU_uc003ynl.3_Silent_p.I298I|SYBU_uc010mcp.2_Silent_p.I299I|SYBU_uc010mcq.2_Silent_p.I299I|SYBU_uc003yno.3_Silent_p.I180I|SYBU_uc010mcr.2_Silent_p.I299I|SYBU_uc003ynm.3_Silent_p.I298I|SYBU_uc003ynn.3_Silent_p.I298I|SYBU_uc010mcs.2_Silent_p.I180I|SYBU_uc010mct.2_Silent_p.I299I|SYBU_uc010mcu.2_Silent_p.I298I|SYBU_uc003ynp.3_Silent_p.I231I|SYBU_uc010mcv.2_Silent_p.I299I|SYBU_uc003ynh.3_Silent_p.I93I|SYBU_uc011lhw.1_Silent_p.I169I	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	299	Potential.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TAAGCTCCACGATTTCACTTT	0.463													T	110588230	G	T	110588230	2	4	243	1	0	0	0	0	0	0	0	1	15424	1048	37	5		5	SYBU	8	110588230	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	8017289	110588230	35775792	62	121681											
ADCY8	114	broad.mit.edu	37	chr8	131793086	131793086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatactgtggtttcttagcGccgataacgccagctaccac	8	13	2	0	rs145809062		TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr8:131793086G>A	uc003ytd.3	-	18	3562	c.3306C>T	c.(3304-3306)GGC>GGT	p.G1102G	ADCY8_uc010mds.2_Silent_p.G971G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1102	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567										HNSCC(32;0.087)			A	131793086	G	A	131793086	2	1	243	1	0	0	0	0	0	0	0	1	300	1074	38	1		1	ADCY8	8	131793086	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	21204856	131793086	14570936	63	121682											
TG	7038	broad.mit.edu	37	chr8	133882060	133882060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcaggcagccaggacGgcctgtggcttgtaagtggg	19	9	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr8:133882060G>A	uc003ytw.2	+	3	304	c.263G>A	c.(262-264)CGG>CAG	p.R88Q		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	88	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		CAGCCAGGACGGCCTGTGGCT	0.622													A	133882060	G	A	133882060	3	1	243	1	0	0	0	0	1	0	0	0	15810	1116	39	1	273	1	TG	8	133882060	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	2088974	133882060	12481962	64	121683											
DMRT1	1761	broad.mit.edu	37	chr9	841979	841979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccagcggctcgagcgcCgggggcagcagcagaggagg	21	12	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:841979C>T	uc003zgv.2	+	1	290	c.141C>T	c.(139-141)GCC>GCT	p.A47A	DMRT1_uc003zgu.1_Silent_p.A47A	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	47					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCTCGAGCGCCGGGGGCAGCA	0.761													T	841979	C	T	841979	2	4	243	1	0	0	0	0	0	0	0	1	4585	639	23	1		1	DMRT1	9	841979	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08		841979	140371452	65	121684											
RANBP6	26953	broad.mit.edu	37	chr9	6015438	6015438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctgctcttctatttctgAcggcatctaagaggaaggta	9	9	4	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:6015438A>G	uc003zjr.2	-	1	181	c.170T>C	c.(169-171)GTC>GCC	p.V57A	RANBP6_uc011lmf.1_Missense_Mutation_p.V57A|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	57					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTATTTCTGACGGCATCTAA	0.473													G	6015438	A	G	6015438	3	3	243	1	0	0	0	0	1	0	0	0	13031	275	10	3	3151	3	RANBP6	9	6015438	Missense_Mutation	SNP	A	TCGA-FP-8099-01A-11D-2340-08	5173459	6015438	135197993	66	121685											
IFNA16	3449	broad.mit.edu	37	chr9	21216967	21216968	+	Frame_Shift_Ins	INS	-	-	A													taggtcattcagttgctggaINSaaagttcaatgtagaatttg							TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:21216966_21216967G>GA	uc003zor.1	-	0	344_345	c.338_339C>TC	c.(337-339)ttcfs	p.F113fs	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	113					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	p.L112R(1)		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)		TCAGTTGCTGGAAAAGTTCAAT	0.47													A	21216968	-	A	21216967	7	5	243	1	0	1	1	0	0	0	0	0	7535	246	9	0	235	0	IFNA16	9	21216967	Frame_Shift_Ins	INS	-	TCGA-FP-8099-01A-11D-2340-08	15201529	21216967	119996464	67	121686											
CDKN2A	1029	broad.mit.edu	37	chr9	21974697	21974697	+	Frame_Shift_Del	DEL	A	A	-													ctggatcggcctccgaccgtAactattcggtgcgttgggca							TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:21974697delA	uc003zpk.2	-	1	342	c.130delT	c.(130-132)TACfs	p.Y44fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.Y44fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	44	ANK 2.				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 binding|protein kinase binding	p.0?(1112)|p.?(23)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.Y44S(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		CTCCGACCGTAACTATTCGGT	0.692		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			-	21974697	A	-	21974697	7	5	243	1	0	1	0	1	0	0	0	0	3161	362	13	0	553	0	CDKN2A	9	21974697	Frame_Shift_Del	DEL	A	TCGA-FP-8099-01A-11D-2340-08	757730	21974697	119238734	68	121687											
SVEP1	79987	broad.mit.edu	37	chr9	113171166	113171166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagacaaatacaggacttccGactgacttatagcccgggtt	9	11	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:113171166G>A	uc010mtz.2	-	38	7051	c.6714C>T	c.(6712-6714)GTC>GTT	p.V2238V	SVEP1_uc010mty.2_Silent_p.V164V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2238	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CAGGACTTCCGACTGACTTAT	0.502													A	113171166	G	A	113171166	2	1	243	1	0	0	0	0	0	0	0	1	15417	1045	37	1		1	SVEP1	9	113171166	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	91196469	113171166	28042265	69	121688											
MUSK	4593	broad.mit.edu	37	chr9	113562732	113562732	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagggctcaggtctccagcCctgggcccccacccctctcc	10	20	3	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:113562732C>G	uc004bey.2	+	14	2172	c.2074C>G	c.(2074-2076)CCT>GCT	p.P692A	MUSK_uc004bez.1_Missense_Mutation_p.P272A	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	692	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GGTCTCCAGCCCTGGGCCCCC	0.587													G	113562732	C	G	113562732	3	3	243	1	0	0	0	0	1	0	0	0	9989	623	22	5	2164	5	MUSK	9	113562732	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	391566	113562732	27650699	70	121689											
COL27A1	85301	broad.mit.edu	37	chr9	117051000	117051000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccctgtgggtgatcgaGgagaccgcggggaaccggga	20	9	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:117051000G>A	uc011lxl.1	+	43	4063	c.4063G>A	c.(4063-4065)GGA>AGA	p.G1355R	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1355	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGGTGATCGAGGAGACCGCGG	0.612													A	117051000	G	A	117051000	3	1	243	1	0	0	0	0	1	0	0	0	3685	1001	35	4	4233	4	COL27A1	9	117051000	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	3488268	117051000	24162431	71	121690											
PTGS1	5742	broad.mit.edu	37	chr9	125154794	125154794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcaggatgatgggcctGctgtggagcgaccatccaca	13	12	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:125154794G>A	uc004bmg.1	+	11	1906	c.1771G>A	c.(1771-1773)GCT>ACT	p.A591T	PTGS1_uc011lys.1_Missense_Mutation_p.A529T|PTGS1_uc010mwb.1_Missense_Mutation_p.A445T|PTGS1_uc004bmf.1_Missense_Mutation_p.A554T|PTGS1_uc004bmh.1_Missense_Mutation_p.A482T|PTGS1_uc011lyt.1_Missense_Mutation_p.A482T	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	591					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			ovary(1)|skin(1)	2					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)	TGATGGGCCTGCTGTGGAGCG	0.582													A	125154794	G	A	125154794	3	1	243	1	0	0	0	0	1	0	0	0	12755	1319	46	2	1813	2	PTGS1	9	125154794	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	8103794	125154794	16058637	72	121691											
FCN1	2219	broad.mit.edu	37	chr9	137806261	137806261	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcatccccttctctcctcGgtctcctggaggaagaggca	10	15	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr9:137806261G>A	uc004cfi.2	-	4	369	c.277C>T	c.(277-279)CGA>TGA	p.R93*		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	93	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTCTCTCCTCGGTCTCCTGGA	0.617													A	137806261	G	A	137806261	4	1	243	1	0	0	0	0	0	1	0	0	5791	1124	39	1	727	1	FCN1	9	137806261	Nonsense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	12651467	137806261	3407170	73	121692											
ITGA8	8516	broad.mit.edu	37	chr10	15628600	15628600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccctcttatttccacctgCgctacagcagtgatgttgat	7	12	1	2	rs145199076	by1000genomes	TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:15628600C>T	uc001ioc.1	-	23	2355	c.2355G>A	c.(2353-2355)GCG>GCA	p.A785A	ITGA8_uc010qcb.1_Silent_p.A770A	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	785	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						TTTCCACCTGCGCTACAGCAG	0.363													T	15628600	C	T	15628600	2	4	243	1	0	0	0	0	0	0	0	1	7882	755	27	1		1	ITGA8	10	15628600	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08		15628600	119906147	74	121693											
PTCHD3	374308	broad.mit.edu	37	chr10	27702628	27702628	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtgaaatggccctgcacGaagcgccgctccgccttggc	14	14	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:27702628G>A	uc001itu.2	-	1	670	c.552C>T	c.(550-552)TTC>TTT	p.F184F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	184					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GGCCCTGCACGAAGCGCCGCT	0.627													A	27702628	G	A	27702628	2	1	243	1	0	0	0	0	0	0	0	1	12734	1049	37	1		1	PTCHD3	10	27702628	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	12074028	27702628	107832119	75	121694											
ZNF438	220929	broad.mit.edu	37	chr10	31139181	31139181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatggtgaatgacatggCagcattctggacgttaggac	14	7	1	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:31139181C>T	uc010qdz.1	-	7	588	c.153G>A	c.(151-153)CTG>CTA	p.L51L	ZNF438_uc001ivn.2_Silent_p.L2L|ZNF438_uc010qdy.1_Silent_p.L41L|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Silent_p.L51L|ZNF438_uc001ivp.3_Silent_p.L41L|ZNF438_uc010qea.1_Silent_p.L51L|ZNF438_uc010qeb.1_Silent_p.L51L|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				AATGACATGGCAGCATTCTGG	0.488													T	31139181	C	T	31139181	2	4	243	1	0	0	0	0	0	0	0	1	17907	697	25	2		2	ZNF438	10	31139181	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	3436553	31139181	104395566	76	121695											
ARHGAP12	94134	broad.mit.edu	37	chr10	32150542	32150542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttcttgaaggttagcAtagacaggagaatctggcct	11	7	3	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:32150542A>G	uc001ivz.1	-	4	999	c.729T>C	c.(727-729)TAT>TAC	p.Y243Y	ARHGAP12_uc001ivy.1_Silent_p.Y241Y|ARHGAP12_uc009xls.2_Silent_p.Y241Y|ARHGAP12_uc001iwb.1_Silent_p.Y241Y|ARHGAP12_uc001iwc.1_Silent_p.Y241Y|ARHGAP12_uc009xlq.1_Silent_p.Y241Y|ARHGAP12_uc001iwd.1_Silent_p.Y241Y|ARHGAP12_uc009xlr.1_Silent_p.Y241Y	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	243					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				GAAGGTTAGCATAGACAGGAG	0.398													G	32150542	A	G	32150542	2	3	243	1	0	0	0	0	0	0	0	1	865	224	8	3		3	ARHGAP12	10	32150542	Silent	SNP	A	TCGA-FP-8099-01A-11D-2340-08	1011361	32150542	103384205	77	121696											
BMS1	9790	broad.mit.edu	37	chr10	43287160	43287160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggccgttttattacagTtatgaagtttaggcctctca	9	8	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:43287160T>G	uc001jaj.2	+	6	1080	c.722T>G	c.(721-723)GTT>GGT	p.V241G		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	241					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TTTATTACAGTTATGAAGTTT	0.398													G	43287160	T	G	43287160	3	3	243	1	0	0	0	0	1	0	0	0	1472	1725	60	5	740	5	BMS1	10	43287160	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	11136618	43287160	92247587	78	121697											
RET	5979	broad.mit.edu	37	chr10	43596039	43596039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccagcttccgcctggGccagcatctctacggcacgt	12	16	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:43596039G>A	uc001jal.2	+	2	396	c.206G>A	c.(205-207)GGC>GAC	p.G69D	RET_uc001jak.1_Missense_Mutation_p.G69D	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	69	Extracellular (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTCCGCCTGGGCCAGCATCTC	0.637		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				A	43596039	G	A	43596039	3	1	243	1	0	0	0	0	1	0	0	0	13235	1203	42	2	212	2	RET	10	43596039	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	308879	43596039	91938708	79	121698											
SIRT1	23411	broad.mit.edu	37	chr10	69672419	69672419	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattactgaaaaacctccaCgaacacaaaaagaattggct	5	9	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:69672419C>T	uc001jnd.2	+	8	1599	c.1546C>T	c.(1546-1548)CGA>TGA	p.R516*	SIRT1_uc010qis.1_Nonsense_Mutation_p.R221*|SIRT1_uc009xpp.2_Nonsense_Mutation_p.R324*|SIRT1_uc001jne.2_Nonsense_Mutation_p.R213*	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	516					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						AAAACCTCCACGAACACAAAA	0.388													T	69672419	C	T	69672419	4	4	243	1	0	0	0	0	0	1	0	0	14337	528	19	1	1576	1	SIRT1	10	69672419	Nonsense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	26076380	69672419	65862328	80	121699											
IFIT1B	439996	broad.mit.edu	37	chr10	91143907	91143907	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttaaaaatggccttggaGacaacacccacttctgcctt	6	13	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:91143907G>A	uc001kgh.2	+	2	917	c.837G>A	c.(835-837)GAG>GAA	p.E279E	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	279	TPR 5.						binding				0						TGGCCTTGGAGACAACACCCA	0.458													A	91143907	G	A	91143907	2	1	243	1	0	0	0	0	0	0	0	1	7522	933	33	4		4	IFIT1B	10	91143907	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	21471488	91143907	44390840	81	121700											
MGEA5	10724	broad.mit.edu	37	chr10	103550838	103550838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagggaaagcagccctcCtactaacctgctcagaagga	11	12	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:103550838C>T	uc001ktv.2	-	14	2712	c.2269G>A	c.(2269-2271)GGA>AGA	p.G757R	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.G704R|MGEA5_uc009xws.2_Missense_Mutation_p.G690R	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	757	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AGCAGCCCTCCTACTAACCTG	0.448													T	103550838	C	T	103550838	3	4	243	1	0	0	0	0	1	0	0	0	9555	690	24	4	493	4	MGEA5	10	103550838	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	12406931	103550838	31983909	82	121701											
SORCS1	114815	broad.mit.edu	37	chr10	108923946	108923946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctgccttctcctgatcCgctccgctccgtctcctccg	7	20	3	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:108923946C>T	uc001kym.2	-	1	347	c.339G>A	c.(337-339)GCG>GCA	p.A113A	SORCS1_uc001kyl.2_Silent_p.A113A|SORCS1_uc009xxs.2_Silent_p.A113A|SORCS1_uc001kyn.1_Silent_p.A113A|SORCS1_uc001kyo.2_Silent_p.A113A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	113	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCTCCTGATCCGCTCCGCTCC	0.721													T	108923946	C	T	108923946	2	4	243	1	0	0	0	0	0	0	0	1	14930	639	23	1		1	SORCS1	10	108923946	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	5373108	108923946	26610801	83	121702											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609996	115609996	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagtcactgaagtcattttCtggcaatggcaaatttatgt	8	7	3	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:115609996C>T	uc001law.2	-	2	1786	c.868G>A	c.(868-870)GAA>AAA	p.E290K		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	290					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAGTCATTTTCTGGCAATGGC	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	115609996	C	T	115609996	3	4	243	1	0	0	0	0	1	0	0	0	4294	922	32	4	2286	4	DCLRE1A	10	115609996	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	6686050	115609996	19924751	84	121703											
PNLIP	5406	broad.mit.edu	37	chr10	118320019	118320019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaataaaggaaactctaaGcagtatgaaattttcaagtg	9	4	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:118320019G>A	uc001lcm.2	+	11	1195	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	384	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GAAACTCTAAGCAGTATGAAA	0.264													A	118320019	G	A	118320019	2	1	243	1	0	0	0	0	0	0	0	1	12149	962	34	2		2	PNLIP	10	118320019	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	2710023	118320019	17214728	85	121704											
MGMT	4255	broad.mit.edu	37	chr10	131334524	131334524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtacttggaaaaatggacaAggattgtgaaatgaaacgca	12	4	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:131334524A>G	uc001lkh.2	+	2	127	c.101A>G	c.(100-102)AAG>AGG	p.K34R		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	3										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		AAAATGGACAAGGATTGTGAA	0.433								Direct_reversal_of_damage					G	131334524	A	G	131334524	3	3	243	1	0	0	0	0	1	0	0	0	9557	72	3	3	107	3	MGMT	10	131334524	Missense_Mutation	SNP	A	TCGA-FP-8099-01A-11D-2340-08	13014505	131334524	4200223	86	121705											
C10orf93	255352	broad.mit.edu	37	chr10	134742984	134742984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgtggtgctgtggaccCgtggccacaagaaaggtaaa	13	9	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr10:134742984C>T	uc001llt.1	-	9	1267	c.1191G>A	c.(1189-1191)ACG>ACA	p.T397T		NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	Error:Variant_position_missing_in_Q5SR76_after_alignment							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		gctgtggacccgtggccacaa	0.06													T	134742984	C	T	134742984	2	4	243	1	0	0	0	0	0	0	0	1	1625	639	23	1		1	C10orf93	10	134742984	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	3408460	134742984	791763	87	121706											
MICAL2	9645	broad.mit.edu	37	chr11	12229626	12229626	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatgctgggagttgaaAtccatgtgaatgtggagttc	13	7	0	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr11:12229626A>T	uc001mjz.2	+	5	817	c.529A>T	c.(529-531)ATC>TTC	p.I177F	MICAL2_uc010rch.1_Missense_Mutation_p.I177F|MICAL2_uc001mjy.2_Missense_Mutation_p.I177F|MICAL2_uc001mka.2_Missense_Mutation_p.I177F|MICAL2_uc010rci.1_Missense_Mutation_p.I177F|MICAL2_uc001mkb.2_Missense_Mutation_p.I177F|MICAL2_uc001mkc.2_Missense_Mutation_p.I177F|MICAL2_uc001mkd.2_Missense_Mutation_p.I6F	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	177						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GGGAGTTGAAATCCATGTGAA	0.443													T	12229626	A	T	12229626	3	4	243	1	0	0	0	0	1	0	0	0	9570	101	4	5	539	5	MICAL2	11	12229626	Missense_Mutation	SNP	A	TCGA-FP-8099-01A-11D-2340-08		12229626	122776890	88	121707											
KCNA4	3739	broad.mit.edu	37	chr11	30032457	30032457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcttgagcaaattagagGggaggtatggacaactgact	12	5	1	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr11:30032457G>A	uc001msk.2	-	2	2921	c.1769C>T	c.(1768-1770)CCC>CTC	p.P590L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	590						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAAATTAGAGGGGAGGTATGG	0.433													A	30032457	G	A	30032457	3	1	243	1	0	0	0	0	1	0	0	0	8005	1232	43	4	196	4	KCNA4	11	30032457	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	17802831	30032457	104974059	89	121708											
OR4C46	119749	broad.mit.edu	37	chr11	51515370	51515370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatatttgttgtgttttTtgtcatctatatcatcactg	5	6	5	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr11:51515370T>G	uc010ric.1	+	1	89	c.89T>G	c.(88-90)TTT>TGT	p.F30C		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTTGTGTTTTTTGTCATCTAT	0.433													G	51515370	T	G	51515370	3	3	243	1	0	0	0	0	1	0	0	0	11051	1841	64	5	91	5	OR4C46	11	51515370	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	21482913	51515370	83491146	90	121709											
OR4C11	219429	broad.mit.edu	37	chr11	55371644	55371644	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtggaagttgaaaagcaaGaatctgcaaaggacaaataa	10	5	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr11:55371644G>A	uc010rii.1	-	1	206	c.206C>T	c.(205-207)TCT>TTT	p.S69F		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGAAAAGCAAGAATCTGCAAA	0.408													A	55371644	G	A	55371644	3	1	243	1	0	0	0	0	1	0	0	0	11045	942	33	4	728	4	OR4C11	11	55371644	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	3856274	55371644	79634872	91	121710											
EML3	256364	broad.mit.edu	37	chr11	62376557	62376557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagaccacctccccagagCgcaacacaaacagattagag	8	13	0	4	rs35971607	byFrequency	TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr11:62376557C>T	uc001ntu.1	-	7	1114	c.806G>A	c.(805-807)CGC>CAC	p.R269H	EML3_uc001ntr.1_Missense_Mutation_p.R241H|EML3_uc001nts.1_Missense_Mutation_p.R241H|EML3_uc001ntt.1_Missense_Mutation_p.R153H|EML3_uc010rly.1_Missense_Mutation_p.R269H|EML3_uc009yny.1_Missense_Mutation_p.R52H	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	269						cytoplasm|microtubule	protein binding			ovary(1)	1						CTCCCCAGAGCGCAACACAAA	0.597													T	62376557	C	T	62376557	3	4	243	1	0	0	0	0	1	0	0	0	5098	768	27	1	1948	1	EML3	11	62376557	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	7004913	62376557	72629959	92	121711											
DSCAML1	57453	broad.mit.edu	37	chr11	117299086	117299086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaggccccggccccctgCttctgagacctccctacccc	9	20	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr11:117299086C>T	uc001prh.1	-	33	6302	c.6300G>A	c.(6298-6300)AAG>AAA	p.K2100K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2040	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		CGGCCCCCTGCTTCTGAGACC	0.692													T	117299086	C	T	117299086	2	4	243	1	0	0	0	0	0	0	0	1	4769	796	28	2		2	DSCAML1	11	117299086	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	54922529	117299086	17707430	93	121712											
CHEK1	1111	broad.mit.edu	37	chr11	125514068	125514068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataccagcccctcatacattGataaattggtacaagggatc	7	10	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr11:125514068G>A	uc009zbo.2	+	10	1898	c.1006G>A	c.(1006-1008)GAT>AAT	p.D336N	CHEK1_uc010sbh.1_Missense_Mutation_p.D352N|CHEK1_uc010sbi.1_Missense_Mutation_p.D336N|CHEK1_uc001qcf.3_Missense_Mutation_p.D336N|CHEK1_uc009zbp.2_Missense_Mutation_p.D336N|CHEK1_uc001qcg.3_Missense_Mutation_p.D336N|CHEK1_uc009zbq.2_Missense_Mutation_p.D336N|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'UTR	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	336					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)|lung(2)|skin(1)	6	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)		CTCATACATTGATAAATTGGT	0.468								Other_conserved_DNA_damage_response_genes					A	125514068	G	A	125514068	3	1	243	1	0	0	0	0	1	0	0	0	3334	1290	45	4	1040	4	CHEK1	11	125514068	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	8214982	125514068	9492448	94	121713											
A2M	2	broad.mit.edu	37	chr12	9254201	9254201	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaacacaagataagcagtgtGatgtgcctcttcgtgttctt	10	8	2	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:9254201G>T	uc001qvk.1	-	12	1449	c.1336C>A	c.(1336-1338)CAC>AAC	p.H446N	A2M_uc009zgk.1_Missense_Mutation_p.H296N	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	446					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TAAGCAGTGTGATGTGCCTCT	0.443													T	9254201	G	T	9254201	3	4	243	1	0	0	0	0	1	0	0	0	4	1290	45	5	3188	5	A2M	12	9254201	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		9254201	124597694	95	121714											
KLRC1	3821	broad.mit.edu	37	chr12	10603730	10603730	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgggggcagattcaggtctGagtagattactccttggtta	13	6	2	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:10603730G>A	uc001qyl.2	-	2	190	c.26C>T	c.(25-27)TCA>TTA	p.S9L	KLRC1_uc009zhm.1_Missense_Mutation_p.S9L|KLRC1_uc001qym.2_Missense_Mutation_p.S9L|KLRC1_uc001qyn.2_Missense_Mutation_p.S9L|KLRC1_uc001qyo.2_Missense_Mutation_p.S9L	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	9	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						ATTCAGGTCTGAGTAGATTAC	0.388													A	10603730	G	A	10603730	3	1	243	1	0	0	0	0	1	0	0	0	8415	1294	45	4	699	4	KLRC1	12	10603730	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	1349529	10603730	123248165	96	121715											
SLC4A8	9498	broad.mit.edu	37	chr12	51882580	51882580	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcttctctgtactaTcttgatattcatggatcagc	6	12	5	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:51882580T>G	uc001rys.1	+	18	2562	c.2384T>G	c.(2383-2385)ATC>AGC	p.I795S	SLC4A8_uc001rym.2_Missense_Mutation_p.I742S|SLC4A8_uc001ryn.2_Missense_Mutation_p.I742S|SLC4A8_uc001ryo.2_Missense_Mutation_p.I742S|SLC4A8_uc010snj.1_Missense_Mutation_p.I822S|SLC4A8_uc001ryr.2_Missense_Mutation_p.I795S	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	795	Helical; (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTCTGTACTATCTTGATATTC	0.458													G	51882580	T	G	51882580	3	3	243	1	0	0	0	0	1	0	0	0	14659	1435	50	5	2454	5	SLC4A8	12	51882580	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	41278850	51882580	81969315	97	121716											
SP1	6667	broad.mit.edu	37	chr12	53776035	53776035	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagccacacaactttcaCagggtgccaatggctggcag	10	13	2	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:53776035C>T	uc001scw.2	+	3	401	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	SP1_uc010sog.1_Nonsense_Mutation_p.Q95*	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	102	Ser/Thr-rich.				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			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACAACTTTCACAGGGTGCCAA	0.552													T	53776035	C	T	53776035	4	4	243	1	0	0	0	0	0	1	0	0	14959	479	17	4	314	4	SP1	12	53776035	Nonsense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	1893455	53776035	80075860	98	121717											
CALCOCO1	57658	broad.mit.edu	37	chr12	54109688	54109688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcagccacttccaggcgGctgcggtgtagttcggctat	12	12	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:54109688G>A	uc001sef.2	-	9	1293	c.1149C>T	c.(1147-1149)AGC>AGT	p.S383S	CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Silent_p.S298S|CALCOCO1_uc010son.1_Silent_p.S260S|CALCOCO1_uc001seh.2_Silent_p.S383S|CALCOCO1_uc009znd.2_Silent_p.S383S|CALCOCO1_uc001seg.2_Silent_p.S208S|CALCOCO1_uc010soo.1_Silent_p.S376S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	383					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						CTTCCAGGCGGCTGCGGTGTA	0.602													A	54109688	G	A	54109688	2	1	243	1	0	0	0	0	0	0	0	1	2577	1194	42	2		2	CALCOCO1	12	54109688	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	333653	54109688	79742207	99	121718											
NEUROD4	58158	broad.mit.edu	37	chr12	55420273	55420273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggagagctagtcaacaCaccatcctggatggataaag	12	8	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:55420273C>T	uc001sgp.3	+	2	428	c.50C>T	c.(49-51)ACA>ATA	p.T17I		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	17					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						CTAGTCAACACACCATCCTGG	0.443													T	55420273	C	T	55420273	3	4	243	1	0	0	0	0	1	0	0	0	10350	478	17	4	52	4	NEUROD4	12	55420273	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	1310585	55420273	78431622	100	121719											
MMP19	4327	broad.mit.edu	37	chr12	56234970	56234970	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatgcgggcccttgtgGcatcatccagctgacctgag	12	14	2	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:56234970G>C	uc001sib.2	-	3	345	c.224C>G	c.(223-225)GCC>GGC	p.A75G	MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.A75G	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	75					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1						GGCCCTTGTGGCATCATCCAG	0.522													C	56234970	G	C	56234970	3	2	243	1	0	0	0	0	1	0	0	0	9657	1203	42	5	1330	5	MMP19	12	56234970	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	814697	56234970	77616925	101	121720											
USP44	84101	broad.mit.edu	37	chr12	95926835	95926835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcatagcaaatggtgagaCcaacgcccactttccagacc	8	13	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:95926835C>A	uc001teg.2	-	2	1342	c.1198G>T	c.(1198-1200)GTC>TTC	p.V400F	USP44_uc001teh.2_Missense_Mutation_p.V400F|USP44_uc009zte.2_Missense_Mutation_p.V397F	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	400					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			lung(1)|breast(1)|central_nervous_system(1)	3						AATGGTGAGACCAACGCCCAC	0.443													A	95926835	C	A	95926835	3	1	243	1	0	0	0	0	1	0	0	0	17072	507	18	5	960	5	USP44	12	95926835	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	39691865	95926835	37925060	102	121721											
MMP17	4326	broad.mit.edu	37	chr12	132329865	132329865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacttctggcggctgacgCgggaccggcacctggtgtcc	15	13	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr12:132329865C>T	uc001ujc.1	+	8	1174	c.1075C>T	c.(1075-1077)CGG>TGG	p.R359W	MMP17_uc001ujd.1_Missense_Mutation_p.R275W	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	359	Hemopexin-like 1.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCGGCTGACGCGGGACCGGCA	0.711													T	132329865	C	T	132329865	3	4	243	1	0	0	0	0	1	0	0	0	9656	759	27	1	1105	1	MMP17	12	132329865	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	36403030	132329865	1522030	103	121722											
MIPEP	4285	broad.mit.edu	37	chr13	24380153	24380153	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttgagaatgtctgtggttGaattcctcaggggatgcttc	12	8	2	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr13:24380153G>A	uc001uox.3	-	16	1884	c.1784C>T	c.(1783-1785)TCA>TTA	p.S595L		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	595					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		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)		GTCTGTGGTTGAATTCCTCAG	0.403													A	24380153	G	A	24380153	3	1	243	1	0	0	0	0	1	0	0	0	9592	1294	45	4	373	4	MIPEP	13	24380153	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		24380153	90789725	104	121723											
LECT1	11061	broad.mit.edu	37	chr13	53298181	53298181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcccacctcaggaataCgagccttcacttgcgcttta	9	15	2	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr13:53298181C>T	uc001vhf.2	-	4	530	c.419G>A	c.(418-420)CGT>CAT	p.R140H	LECT1_uc001vhg.2_Missense_Mutation_p.R140H|LECT1_uc001vhh.2_Intron	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	140	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(2)	2		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCAGGAATACGAGCCTTCAC	0.473													T	53298181	C	T	53298181	3	4	243	1	0	0	0	0	1	0	0	0	8712	536	19	1	601	1	LECT1	13	53298181	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	28918028	53298181	61871697	105	121724											
MYCBP2	23077	broad.mit.edu	37	chr13	77754282	77754282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagatcccagggctgacgCtgtcagttcactgacaatgc	10	13	3	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr13:77754282C>T	uc001vkf.2	-	35	5090	c.4999G>A	c.(4999-5001)GCG>ACG	p.A1667T	MYCBP2_uc010aev.2_Missense_Mutation_p.A1071T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGGCTGACGCTGTCAGTTCA	0.428													T	77754282	C	T	77754282	3	4	243	1	0	0	0	0	1	0	0	0	10018	797	28	2	9123	2	MYCBP2	13	77754282	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	24456101	77754282	37415596	106	121725											
NKX2-1	7080	broad.mit.edu	37	chr14	36987207	36987207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttcatgccgctcgccGggcccatgaagcgggagact	13	13	2	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr14:36987207G>A	uc001wtt.2	-	2	733	c.392C>T	c.(391-393)CCG>CTG	p.P131L	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.P161L|NKX2-1_uc001wtv.2_Missense_Mutation_p.P131L|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	131					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GCCGCTCGCCGGGCCCATGAA	0.716			A		NSCLC								A	36987207	G	A	36987207	3	1	243	1	0	0	0	0	1	0	0	0	10449	1116	39	1	727	1	NKX2-1	14	36987207	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		36987207	70362333	107	121726											
KCNH5	27133	broad.mit.edu	37	chr14	63417125	63417125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgatgctataccatatGcaggccagccagtgggccac	10	14	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr14:63417125G>A	uc001xfx.2	-	7	1146	c.1095C>T	c.(1093-1095)TGC>TGT	p.C365C	KCNH5_uc001xfy.2_Silent_p.C365C|KCNH5_uc001xfz.1_Silent_p.C307C|KCNH5_uc001xga.2_Silent_p.C307C	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	365	Helical; Name=Segment S5; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TATACCATATGCAGGCCAGCC	0.522													A	63417125	G	A	63417125	2	1	243	1	0	0	0	0	0	0	0	1	8035	1311	46	2		2	KCNH5	14	63417125	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	26429918	63417125	43932415	108	121727											
C14orf156	81892	broad.mit.edu	37	chr14	78174460	78174460	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctttagtctgaagatggcGgcctcagcagcgagaggtgc	15	9	2	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr14:78174460G>T	uc001xue.3	+	1	36	c.6G>T	c.(4-6)GCG>GCT	p.A2A	ALKBH1_uc001xuc.1_5'Flank|ALKBH1_uc001xud.1_5'Flank	NM_031210	NP_112487	Q9GZT3	SLIRP_HUMAN	SRA stem-loop-interacting RNA-binding protein	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	nucleotide binding|RNA binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0276)		TGAAGATGGCGGCCTCAGCAG	0.562													T	78174460	G	T	78174460	2	4	243	1	0	0	0	0	0	0	0	1	1754	1103	39	5		5	C14orf156	14	78174460	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	14757335	78174460	29175080	109	121728											
INF2	64423	broad.mit.edu	37	chr14	105174317	105174317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagctgaactggcagaaGctgccatccaacgtggcacg	12	11	0	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr14:105174317G>A	uc001ypb.2	+	8	1856	c.1713G>A	c.(1711-1713)AAG>AAA	p.K571K	INF2_uc010tyi.1_Silent_p.K571K|INF2_uc001ypc.2_Silent_p.K571K|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	571	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		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)		ACTGGCAGAAGCTGCCATCCA	0.657													A	105174317	G	A	105174317	2	1	243	1	0	0	0	0	0	0	0	1	7734	962	34	2		2	INF2	14	105174317	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	26999857	105174317	2175223	110	121729											
DISP2	85455	broad.mit.edu	37	chr15	40656717	40656717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctggactgttgggggcccGgctgcccgacttctccaagc	15	14	1	0	rs146996300		TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr15:40656717G>T	uc001zlk.1	+	4	664	c.575G>T	c.(574-576)CGG>CTG	p.R192L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	192					smoothened signaling pathway	integral to membrane				ovary(2)	2		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)		TTGGGGGCCCGGCTGCCCGAC	0.637													T	40656717	G	T	40656717	3	4	243	1	0	0	0	0	1	0	0	0	4540	1116	39	5	589	5	DISP2	15	40656717	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		40656717	61874675	111	121730											
DISP2	85455	broad.mit.edu	37	chr15	40661395	40661395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctgcctcagtgggcCtctcagtagacttcactgtc	8	14	5	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr15:40661395C>A	uc001zlk.1	+	8	3171	c.3082C>A	c.(3082-3084)CTC>ATC	p.L1028I		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	1028	Helical; (Potential).				smoothened signaling pathway	integral to membrane				ovary(2)	2		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)		CTCAGTGGGCCTCTCAGTAGA	0.602													A	40661395	C	A	40661395	3	1	243	1	0	0	0	0	1	0	0	0	4540	681	24	5	3112	5	DISP2	15	40661395	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	4678	40661395	61869997	112	121731											
PLA2G4F	255189	broad.mit.edu	37	chr15	42438358	42438358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactcaagttggtgcggaCgttgacactggtgtaaatgg	13	9	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr15:42438358C>T	uc001zoz.2	-	14	1564	c.1501G>A	c.(1501-1503)GTC>ATC	p.V501I	PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.V133I|PLA2G4F_uc010bcr.2_Missense_Mutation_p.V252I|PLA2G4F_uc001zpa.2_Missense_Mutation_p.V252I|PLA2G4F_uc010bcs.2_Missense_Mutation_p.V288I	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	501	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		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)		TTGGTGCGGACGTTGACACTG	0.592													T	42438358	C	T	42438358	3	4	243	1	0	0	0	0	1	0	0	0	12006	536	19	1	1076	1	PLA2G4F	15	42438358	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	1776963	42438358	60093034	113	121732											
CAPN3	825	broad.mit.edu	37	chr15	42652295	42652295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagttccccatccagttcGtctggaagagacctccggtg	11	12	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr15:42652295G>A	uc001zpn.1	+	1	598	c.292G>A	c.(292-294)GTC>ATC	p.V98I	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.V98I|CAPN3_uc001zpp.1_Missense_Mutation_p.V98I	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	98	Calpain catalytic.		Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATCCAGTTCGTCTGGAAGAG	0.532													A	42652295	G	A	42652295	3	1	243	1	0	0	0	0	1	0	0	0	2628	1145	40	1	346	1	CAPN3	15	42652295	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	213937	42652295	59879097	114	121733											
UNC13C	440279	broad.mit.edu	37	chr15	54306827	54306827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcactagaactaatggaaGctctctcctgtcatcttcgg	7	11	4	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr15:54306827G>T	uc002ack.2	+	1	1727	c.1727G>T	c.(1726-1728)AGC>ATC	p.S576I		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	576					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTAATGGAAGCTCTCTCCTG	0.433													T	54306827	G	T	54306827	3	4	243	1	0	0	0	0	1	0	0	0	16983	971	34	5	1729	5	UNC13C	15	54306827	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	11654532	54306827	48224565	115	121734											
BNC1	646	broad.mit.edu	37	chr15	83932806	83932806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcgattccggctcctTagggagctgaacaccatgtt	11	11	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr15:83932806T>C	uc002bjt.1	-	4	1285	c.1197A>G	c.(1195-1197)CTA>CTG	p.L399L	BNC1_uc010uos.1_Silent_p.L387L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	399	C2H2-type 2.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TCCGGCTCCTTAGGGAGCTGA	0.517													C	83932806	T	C	83932806	2	2	243	1	0	0	0	0	0	0	0	1	1474	1741	61	3		3	BNC1	15	83932806	Silent	SNP	T	TCGA-FP-8099-01A-11D-2340-08	29625979	83932806	18598586	116	121735											
NTRK3	4916	broad.mit.edu	37	chr15	88420326	88420326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggccgctccaaaacaCgaccttgggtaatgcactca	10	14	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr15:88420326C>T	uc002bme.1	-	19	2522	c.2360G>A	c.(2359-2361)CGT>CAT	p.R787H	NTRK3_uc002bmh.2_Missense_Mutation_p.R765H|NTRK3_uc002bmf.1_Missense_Mutation_p.R773H	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	787	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCCAAAACACGACCTTGGGT	0.537			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			T	88420326	C	T	88420326	3	4	243	1	0	0	0	0	1	0	0	0	10708	536	19	1	163	1	NTRK3	15	88420326	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	4487520	88420326	14111066	117	121736											
DCI	1632	broad.mit.edu	37	chr16	2290000	2290000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcctttttcttctttgaGcctctctaagtacatctgca	5	11	4	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr16:2290000G>A	uc002cpr.2	-	7	925	c.889C>T	c.(889-891)CTC>TTC	p.L297F	DCI_uc002cps.2_Missense_Mutation_p.L280F	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	297					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						TCTTCTTTGAGCCTCTCTAAG	0.537													A	2290000	G	A	2290000	3	1	243	1	0	0	0	0	1	0	0	0	4289	971	34	2	23	2	DCI	16	2290000	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		2290000	88064753	118	121737											
OR1F1	4992	broad.mit.edu	37	chr16	3254578	3254578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgttcgtggacatggAcaatttcctcctagctgtga	9	9	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr16:3254578A>G	uc010uwu.1	+	1	332	c.332A>G	c.(331-333)GAC>GGC	p.D111G		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTGGACATGGACAATTTCCTC	0.507													G	3254578	A	G	3254578	3	3	243	1	0	0	0	0	1	0	0	0	10956	275	10	3	334	3	OR1F1	16	3254578	Missense_Mutation	SNP	A	TCGA-FP-8099-01A-11D-2340-08	964578	3254578	87100175	119	121738											
PLCG2	5336	broad.mit.edu	37	chr16	81925130	81925130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgggatgagaagtatgaCgcggtggacatgcaggacat	15	6	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr16:81925130C>T	uc002fgt.2	+	11	1073	c.921C>T	c.(919-921)GAC>GAT	p.D307D	PLCG2_uc010chg.1_Silent_p.D307D	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	307					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AGAAGTATGACGCGGTGGACA	0.498													T	81925130	C	T	81925130	2	4	243	1	0	0	0	0	0	0	0	1	12036	535	19	1		1	PLCG2	16	81925130	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	78670552	81925130	8429623	120	121739											
LRRC50	123872	broad.mit.edu	37	chr16	84203642	84203642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggagccgcctgtggaggCtaaaagagaggatggaggtc	18	6	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr16:84203642C>A	uc002fhl.3	+	8	1389	c.1208C>A	c.(1207-1209)GCT>GAT	p.A403D	LRRC50_uc010vnw.1_Missense_Mutation_p.A167D	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	403	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						CCTGTGGAGGCTAAAAGAGAG	0.557									Kartagener_syndrome				A	84203642	C	A	84203642	3	1	243	1	0	0	0	0	1	0	0	0	9009	797	28	5	1238	5	LRRC50	16	84203642	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	2278512	84203642	6151111	121	121740											
SGSM2	9905	broad.mit.edu	37	chr17	2279113	2279113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaggagaagcctcagGccggagaactggaggccgga	16	12	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr17:2279113G>C	uc002fun.3	+	17	2468	c.2293G>C	c.(2293-2295)GCC>CCC	p.A765P	SGSM2_uc002fum.3_Missense_Mutation_p.A810P|SGSM2_uc010vqw.1_Missense_Mutation_p.A765P|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	765	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GAAGCCTCAGGCCGGAGAACT	0.682													C	2279113	G	C	2279113	3	2	243	1	0	0	0	0	1	0	0	0	14223	1203	42	5	2498	5	SGSM2	17	2279113	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		2279113	78916097	122	121741											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(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*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578406	C	T	7578406	3	4	243	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	5299293	7578406	73616804	123	121742											
SPAG5	10615	broad.mit.edu	37	chr17	26919760	26919760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctcctctctcaccagatCgtctgttctcaaaggtccat	5	16	4	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr17:26919760C>T	uc002hbq.2	-	3	594	c.502G>A	c.(502-504)GAT>AAT	p.D168N	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	168					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					CTCACCAGATCGTCTGTTCTC	0.473													T	26919760	C	T	26919760	3	4	243	1	0	0	0	0	1	0	0	0	14981	884	31	1	3167	1	SPAG5	17	26919760	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	19341354	26919760	54275450	124	121743											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	243	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-FP-8099-01A-11D-2340-08	29466624	56386384	24808826	125	121744											
SCN4A	6329	broad.mit.edu	37	chr17	62019209	62019209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgaagagggcaggcagcGacatcatgagggcgaacagc	16	8	1	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr17:62019209G>A	uc002jds.1	-	24	4510	c.4433C>T	c.(4432-4434)TCG>TTG	p.S1478L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1478	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GGCAGGCAGCGACATCATGAG	0.607													A	62019209	G	A	62019209	3	1	243	1	0	0	0	0	1	0	0	0	13920	1059	37	1	1081	1	SCN4A	17	62019209	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	5632825	62019209	19176001	126	121745											
TTYH2	94015	broad.mit.edu	37	chr17	72233438	72233438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcctccctaggtttcCggaactacccagaagatgaa	8	14	0	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr17:72233438C>T	uc002jkc.2	+	4	451	c.420C>T	c.(418-420)TCC>TCT	p.S140S	TTYH2_uc010wqw.1_Silent_p.S119S	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	140	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						CCTAGGTTTCCGGAACTACCC	0.557													T	72233438	C	T	72233438	2	4	243	1	0	0	0	0	0	0	0	1	16737	639	23	1		1	TTYH2	17	72233438	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	10214229	72233438	8961772	127	121746											
MYOM1	8736	broad.mit.edu	37	chr18	3188832	3188832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcttcctgttgaagagCggatgtggcctgtttggaaa	13	6	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr18:3188832C>T	uc002klp.2	-	4	1019	c.685G>A	c.(685-687)GCT>ACT	p.A229T	MYOM1_uc002klq.2_Missense_Mutation_p.A229T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	229						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TGTTGAAGAGCGGATGTGGCC	0.512													T	3188832	C	T	3188832	3	4	243	1	0	0	0	0	1	0	0	0	10091	768	27	1	4512	1	MYOM1	18	3188832	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08		3188832	74888416	128	121747											
SETBP1	26040	broad.mit.edu	37	chr18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctccctaaaggaaatcaCgctgtcccctgtgagcgagt	11	12	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr18:42531860C>T	uc010dni.2	+	4	2851	c.2555C>T	c.(2554-2556)ACG>ATG	p.T852M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	852						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGAAATCACGCTGTCCCCT	0.562									Schinzel-Giedion_syndrome				T	42531860	C	T	42531860	3	4	243	1	0	0	0	0	1	0	0	0	14129	536	19	1	2758	1	SETBP1	18	42531860	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	39343028	42531860	35545388	129	121748											
PLIN4	729359	broad.mit.edu	37	chr19	4510934	4510934	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgtccaggccccccTggacggcccctttggccatg	14	15	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:4510934T>G	uc002mar.1	-	3	2996	c.2996A>C	c.(2995-2997)CAG>CCG	p.Q999P	PLIN4_uc010dub.1_Missense_Mutation_p.Q23P	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	999						lipid particle|plasma membrane					0						CAGGCCCCCCTGGACGGCCCC	0.642													G	4510934	T	G	4510934	3	3	243	1	0	0	0	0	1	0	0	0	12092	1580	55	5	1093	5	PLIN4	19	4510934	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08		4510934	54618049	130	121749											
SMARCA4	6597	broad.mit.edu	37	chr19	11134252	11134252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccacaaagtgctgcGgcccttcttgctccgacgac	10	16	2	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:11134252G>A	uc002mqf.3	+	20	3202	c.2918G>A	c.(2917-2919)CGG>CAG	p.R973Q	SMARCA4_uc010dxp.2_Missense_Mutation_p.R973Q|SMARCA4_uc010dxo.2_Missense_Mutation_p.R973Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.R973Q|SMARCA4_uc010dxq.2_Missense_Mutation_p.R973Q|SMARCA4_uc010dxr.2_Missense_Mutation_p.R973Q|SMARCA4_uc002mqj.3_Missense_Mutation_p.R973Q|SMARCA4_uc010dxs.2_Missense_Mutation_p.R973Q|SMARCA4_uc010dxt.1_Missense_Mutation_p.R193Q|SMARCA4_uc002mqh.3_Missense_Mutation_p.R96Q|SMARCA4_uc002mqi.1_Missense_Mutation_p.R176Q	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	973					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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAAGTGCTGCGGCCCTTCTTG	0.562			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				A	11134252	G	A	11134252	3	1	243	1	0	0	0	0	1	0	0	0	14770	1116	39	1	2992	1	SMARCA4	19	11134252	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	6623318	11134252	47994731	131	121750											
EMR2	30817	broad.mit.edu	37	chr19	14862365	14862365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgttgatgcttgagTagttgaccaccgtcaggttc	11	8	2	4			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:14862365T>C	uc002mzp.1	-	16	2363	c.1907A>G	c.(1906-1908)TAC>TGC	p.Y636C	EMR2_uc010dzs.1_Missense_Mutation_p.Y95C|EMR2_uc010xnw.1_Missense_Mutation_p.Y578C|EMR2_uc002mzo.1_Missense_Mutation_p.Y625C|EMR2_uc002mzq.1_Missense_Mutation_p.Y576C|EMR2_uc002mzr.1_Missense_Mutation_p.Y587C|EMR2_uc002mzs.1_Missense_Mutation_p.Y494C|EMR2_uc002mzt.1_Missense_Mutation_p.Y532C|EMR2_uc002mzu.1_Missense_Mutation_p.Y543C|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	636	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GATGCTTGAGTAGTTGACCAC	0.562													C	14862365	T	C	14862365	3	2	243	1	0	0	0	0	1	0	0	0	5105	1638	57	3	588	3	EMR2	19	14862365	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	3728113	14862365	44266618	132	121751											
IL12RB1	3594	broad.mit.edu	37	chr19	18179266	18179266	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcttctcggggtgcgcagaGgcaaagatggtaatgtagta	15	6	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:18179266G>C	uc002nhw.1	-	11	1324	c.1260C>G	c.(1258-1260)GCC>GCG	p.A420A	IL12RB1_uc010xqb.1_Silent_p.A420A|IL12RB1_uc002nhx.1_Silent_p.A460A	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	420	Extracellular (Potential).|Fibronectin type-III 4.				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			pancreas(1)	1						GGTGCGCAGAGGCAAAGATGG	0.522													C	18179266	G	C	18179266	2	2	243	1	0	0	0	0	0	0	0	1	7626	987	35	5		5	IL12RB1	19	18179266	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	3316901	18179266	40949717	133	121752											
ZNF492	57615	broad.mit.edu	37	chr19	22847938	22847938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcctttaacaactcCtctattcttaacagacataa	4	11	2	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:22847938C>T	uc002nqw.3	+	4	1711	c.1467C>T	c.(1465-1467)TCC>TCT	p.S489S		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	489	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTAACAACTCCTCTATTCTTA	0.368													T	22847938	C	T	22847938	2	4	243	1	0	0	0	0	0	0	0	1	17940	668	24	4		4	ZNF492	19	22847938	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	4668672	22847938	36281045	134	121753											
ZNF569	148266	broad.mit.edu	37	chr19	37903672	37903672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtcgaagggtttctcacCtgtatgtcctcgtatatgta	9	9	1	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:37903672C>T	uc002ogi.2	-	6	2446	c.1888G>A	c.(1888-1890)GGT>AGT	p.G630S	ZNF569_uc002ogh.2_Missense_Mutation_p.G471S|ZNF569_uc002ogj.2_Missense_Mutation_p.G654S	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTTTCTCACCTGTATGTCCT	0.408													T	37903672	C	T	37903672	3	4	243	1	0	0	0	0	1	0	0	0	17997	681	24	4	176	4	ZNF569	19	37903672	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	15055734	37903672	21225311	135	121754											
NUMBL	9253	broad.mit.edu	37	chr19	41188680	41188680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcggctgacacccacaGgacagacttcacggactttc	8	16	1	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:41188680G>A	uc002oon.2	-	5	520	c.352C>T	c.(352-354)CTG>TTG	p.L118L	NUMBL_uc010xvq.1_Silent_p.L77L|NUMBL_uc002ooo.2_Silent_p.L118L|NUMBL_uc010xvr.1_Silent_p.L77L	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	118	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GACACCCACAGGACAGACTTC	0.647													A	41188680	G	A	41188680	2	1	243	1	0	0	0	0	0	0	0	1	10752	991	35	4		4	NUMBL	19	41188680	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	3285008	41188680	17940303	136	121755											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388028	46388028	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaagctgcggacgccgtcGgtaagcagctcgcccagctg	15	14	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:46388028G>T	uc002pds.1	-	1	1349	c.1005C>A	c.(1003-1005)ACC>ACA	p.T335T		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		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)		GGACGCCGTCGGTAAGCAGCT	0.692													T	46388028	G	T	46388028	2	4	243	1	0	0	0	0	0	0	0	1	7829	1103	39	5		5	IRF2BP1	19	46388028	Silent	SNP	G	TCGA-FP-8099-01A-11D-2340-08	5199348	46388028	12740955	137	121756											
LILRA3	11026	broad.mit.edu	37	chr19	54803070	54803070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccacacatagggagcgcGcgagtcataaccatagcacc	10	13	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:54803070G>A	uc002qfd.2	-	4	672	c.607C>T	c.(607-609)CGC>TGC	p.R203C	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	203	Ig-like C2-type 2.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGGGAGCGCGCGAGTCATAA	0.612													A	54803070	G	A	54803070	3	1	243	1	0	0	0	0	1	0	0	0	8786	1087	38	1	728	1	LILRA3	19	54803070	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	8415042	54803070	4325913	138	121757											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600101	58600102	+	Frame_Shift_Ins	INS	-	-	G													cagctccaagggcctggctgINSgggctcgcgagctcgcctgg							TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr19:58600100_58600101T>TG	uc010yht.1	-	2	705_706	c.675_676A>CA	c.(673-678)cccagcfs	p.P225fs	ZSCAN18_uc002qrj.3_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc010yhs.1_Frame_Shift_Ins_p.P34fs|ZSCAN18_uc002qrh.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qri.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrk.1_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrl.2_Frame_Shift_Ins_p.P169fs	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	169					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)		AGGGCCTGGCTGGGGCTCGCGA	0.649													G	58600102	-	G	58600101	7	5	243	1	0	1	1	0	0	0	0	0	18227	1335	47	0	1045	0	ZSCAN18	19	58600101	Frame_Shift_Ins	INS	-	TCGA-FP-8099-01A-11D-2340-08	3797031	58600101	528882	139	121758											
NAPB	63908	broad.mit.edu	37	chr20	23370595	23370596	+	Frame_Shift_Ins	INS	-	-	T													tcctcacctgctcatagatcINStcaatggctttctggtactg							TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:23370595_23370596insT	uc002wta.2	-	7	665_666	c.548_549insA	c.(547-549)GAGfs	p.E183fs	NAPB_uc002wtc.2_Frame_Shift_Ins_p.E89fs|NAPB_uc002wtb.2_Frame_Shift_Ins_p.E187fs|NAPB_uc002wtd.3_RNA|NAPB_uc010zss.1_Frame_Shift_Ins_p.E70fs|NAPB_uc010zst.1_Frame_Shift_Ins_p.E144fs	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment	183					intracellular protein transport|vesicle-mediated transport	membrane				ovary(1)	1	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					GCTCATAGATCTCAATGGCTTT	0.376													T	23370596	-	T	23370595	7	5	243	1	0	1	1	0	0	0	0	0	10162	912	32	0	367	0	NAPB	20	23370595	Frame_Shift_Ins	INS	-	TCGA-FP-8099-01A-11D-2340-08		23370595	39654925	140	121759	623	2									
NAPB	63908	broad.mit.edu	37	chr20	23370596	23370597	+	Frame_Shift_Ins	INS	-	-	T													cctcacctgctcatagatctINScaatggctttctggtactgc							TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:23370595_23370596C>CT	uc002wtb.3	-	6	677_678	c.560_561G>AG	c.(559-561)gagfs	p.E187fs	NAPB_uc002wta.3_Frame_Shift_Ins_p.E183fs|NAPB_uc002wtc.3_Frame_Shift_Ins_p.E89fs|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zss.1_Frame_Shift_Ins_p.E70fs|NAPB_uc010zst.1_Frame_Shift_Ins_p.E144fs	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA.	183					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)					GCTCATAGATCTCAATGGCTTT	0.386													T	23370597	-	T	23370596	7	5	243	1	0	1	1	0	0	0	0	0	10162	1551	54	0	368	0	NAPB	20	23370596	Frame_Shift_Ins	INS	-	TCGA-FP-8099-01A-11D-2340-08	1	23370596	39654924	141	121760	623	2									
TPX2	22974	broad.mit.edu	37	chr20	30371652	30371652	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccaggagcgagaatcaaaGaagaaaacagaggatgaaca	11	6	1	5			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:30371652G>T	uc002wwp.1	+	12	2039	c.1341G>T	c.(1339-1341)AAG>AAT	p.K447N	TPX2_uc010gdv.1_Missense_Mutation_p.K483N	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	447					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAGAATCAAAGAAGAAAACAG	0.453													T	30371652	G	T	30371652	3	4	243	1	0	0	0	0	1	0	0	0	16429	933	33	5	1379	5	TPX2	20	30371652	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	7001056	30371652	32653868	142	121761											
SLC32A1	140679	broad.mit.edu	37	chr20	37356300	37356300	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgccccgcgcttccCaacgctgggcggccgagtgg	15	17	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:37356300C>G	uc002xjc.2	+	2	859	c.596C>G	c.(595-597)CCA>CGA	p.P199R		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	199	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCGCGCTTCCCAACGCTGGGC	0.627													G	37356300	C	G	37356300	3	3	243	1	0	0	0	0	1	0	0	0	14565	594	21	5	602	5	SLC32A1	20	37356300	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	6984648	37356300	25669220	143	121762											
SEMG1	6406	broad.mit.edu	37	chr20	43837007	43837007	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagtacggaagaaagaCgactccactatggagaaaat	9	8	1	3			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:43837007C>T	uc002xni.2	+	2	1126	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*	SEMG1_uc002xnj.2_Nonsense_Mutation_p.R297*|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	357	58 AA repeat 2.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				GGAAGAAAGACGACTCCACTA	0.413													T	43837007	C	T	43837007	4	4	243	1	0	0	0	0	0	1	0	0	14044	528	19	1	1075	1	SEMG1	20	43837007	Nonsense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	6480707	43837007	19188513	144	121763											
CSTF1	1477	broad.mit.edu	37	chr20	54972832	54972832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggcttctggttcaaggGattatactcttaaattattt	7	7	3	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:54972832G>A	uc002xxl.1	+	4	780	c.580G>A	c.(580-582)GAT>AAT	p.D194N	CSTF1_uc002xxm.1_Missense_Mutation_p.D194N|CSTF1_uc002xxn.1_Missense_Mutation_p.D194N|CSTF1_uc002xxo.1_Missense_Mutation_p.D137N	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	194	WD 2.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			TGGTTCAAGGGATTATACTCT	0.393													A	54972832	G	A	54972832	3	1	243	1	0	0	0	0	1	0	0	0	3983	1174	41	4	590	4	CSTF1	20	54972832	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	11135825	54972832	8052688	145	121764											
CTSZ	1522	broad.mit.edu	37	chr20	57571768	57571768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccacccagccacagaaaCgacatggtttatatatgtgg	9	12	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:57571768C>T	uc002yai.2	-	5	853	c.727G>A	c.(727-729)GTT>ATT	p.V243I	CTSZ_uc002yaj.3_Missense_Mutation_p.V243I	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	cathepsin Z preproprotein	243					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			kidney(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			GCCACAGAAACGACATGGTTT	0.473													T	57571768	C	T	57571768	3	4	243	1	0	0	0	0	1	0	0	0	4043	536	19	1	192	1	CTSZ	20	57571768	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	2598936	57571768	5453752	146	121765											
ZNF831	128611	broad.mit.edu	37	chr20	57767395	57767395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccaaacagggcagcatcGacctgcccacgccctacacc	8	18	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:57767395G>A	uc002yan.2	+	1	1321	c.1321G>A	c.(1321-1323)GAC>AAC	p.D441N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	441						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGGCAGCATCGACCTGCCCAC	0.677													A	57767395	G	A	57767395	3	1	243	1	0	0	0	0	1	0	0	0	18182	1058	37	1	1323	1	ZNF831	20	57767395	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	195627	57767395	5258125	147	121766											
CDH4	1002	broad.mit.edu	37	chr20	60485495	60485495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttgcaggggaggtcccCgaaaaccgcgtggagaccgt	15	11	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:60485495C>T	uc002ybn.1	+	9	1220	c.1206C>T	c.(1204-1206)CCC>CCT	p.P402P	CDH4_uc002ybp.1_Silent_p.P328P	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	402	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGAGGTCCCCGAAAACCGCG	0.428													T	60485495	C	T	60485495	2	4	243	1	0	0	0	0	0	0	0	1	3112	639	23	1		1	CDH4	20	60485495	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	2718100	60485495	2540025	148	121767											
PSMA7	5688	broad.mit.edu	37	chr20	60714221	60714221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgatgagggcagagatgccAaacggcctgcgcccattgct	13	12	0	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:60714221A>G	uc002ybx.1	-	4	496	c.381T>C	c.(379-381)TTT>TTC	p.F127F	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	127					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|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	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CAGAGATGCCAAACGGCCTGC	0.512													G	60714221	A	G	60714221	2	3	243	1	0	0	0	0	0	0	0	1	12672	127	5	3		3	PSMA7	20	60714221	Silent	SNP	A	TCGA-FP-8099-01A-11D-2340-08	228726	60714221	2311299	149	121768											
C20orf135	140701	broad.mit.edu	37	chr20	62493709	62493709	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtgctggacgccaccttCgacgaccttgtgccgctggc	13	15	0	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr20:62493709C>T	uc002ygx.1	+	1	1144	c.816C>T	c.(814-816)TTC>TTT	p.F272F	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	272							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACGCCACCTTCGACGACCTTG	0.667													T	62493709	C	T	62493709	2	4	243	1	0	0	0	0	0	0	0	1	2088	883	31	1		1	C20orf135	20	62493709	Silent	SNP	C	TCGA-FP-8099-01A-11D-2340-08	1779488	62493709	531811	150	121769											
SMTN	6525	broad.mit.edu	37	chr22	31495818	31495818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcttccctgaggccttcGactatgggcagcttagccct	9	14	1	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chr22:31495818G>A	uc003ajl.1	+	19	2757	c.2539G>A	c.(2539-2541)GAC>AAC	p.D847N	SMTN_uc003ajk.1_Missense_Mutation_p.D847N|SMTN_uc003ajm.1_Missense_Mutation_p.D847N|SMTN_uc011ale.1_Missense_Mutation_p.D932N|SMTN_uc011alf.1_Missense_Mutation_p.D903N|SMTN_uc003ajn.1_Missense_Mutation_p.D870N|SMTN_uc011alg.1_Missense_Mutation_p.D303N|SMTN_uc003ajo.1_Missense_Mutation_p.D370N|SMTN_uc010gwe.1_Missense_Mutation_p.D227N|SMTN_uc003ajp.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	847	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						TGAGGCCTTCGACTATGGGCA	0.572													A	31495818	G	A	31495818	3	1	243	1	0	0	0	0	1	0	0	0	14814	1058	37	1	2609	1	SMTN	22	31495818	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		31495818	19808748	151	121770											
MAGEB18	286514	broad.mit.edu	37	chrX	26158023	26158023	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcctgctatgaagaggctttGagggatgaggaacagagaac	14	6	0	5			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chrX:26158023G>C	uc004dbq.1	+	2	1108	c.921G>C	c.(919-921)TTG>TTC	p.L307F		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	307							protein binding			central_nervous_system(1)	1						AAGAGGCTTTGAGGGATGAGG	0.527													C	26158023	G	C	26158023	3	2	243	1	0	0	0	0	1	0	0	0	9175	1281	45	5	923	5	MAGEB18	23	26158023	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08		26158023	129112537	152	121771											
TRO	7216	broad.mit.edu	37	chrX	54950962	54950962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggaggcctgcaccaccgCgagatgtggccattttacaa	12	13	0	1			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chrX:54950962C>T	uc004dtq.2	+	4	1422	c.1315C>T	c.(1315-1317)CGA>TGA	p.R439*	TRO_uc004dts.2_Nonsense_Mutation_p.R439*|TRO_uc004dtr.2_Nonsense_Mutation_p.R439*|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Nonsense_Mutation_p.R42*|TRO_uc011mok.1_5'UTR|TRO_uc004dtw.2_Nonsense_Mutation_p.R42*|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	439					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						TGCACCACCGCGAGATGTGGC	0.502													T	54950962	C	T	54950962	4	4	243	1	0	0	0	0	0	1	0	0	16571	760	27	1	1325	1	TRO	23	54950962	Nonsense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	28792939	54950962	100319598	153	121772											
NAP1L2	4674	broad.mit.edu	37	chrX	72433043	72433043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcataaataattttgtcaTaaattgcatcattaacttct	2	6	4	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chrX:72433043T>C	uc004ebi.2	-	1	1642	c.1286A>G	c.(1285-1287)TAT>TGT	p.Y429C	NAP1L2_uc011mqj.1_Missense_Mutation_p.Y287C	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	429					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					AATTTTGTCATAAATTGCATC	0.358													C	72433043	T	C	72433043	3	2	243	1	0	0	0	0	1	0	0	0	10157	1406	49	3	100	3	NAP1L2	23	72433043	Missense_Mutation	SNP	T	TCGA-FP-8099-01A-11D-2340-08	17482081	72433043	82837517	154	121773											
CXorf48	54967	broad.mit.edu	37	chrX	134294425	134294425	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taacacatccaattaaaactCtggttcctgagtctgagggt	8	9	2	2			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chrX:134294425C>A	uc004eyk.1	-	3	991	c.335G>T	c.(334-336)AGA>ATA	p.R112I	CXorf48_uc004eyl.1_Missense_Mutation_p.R112I	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	112											0	Acute lymphoblastic leukemia(192;0.000127)					AATTAAAACTCTGGTTCCTGA	0.328													A	134294425	C	A	134294425	3	1	243	1	0	0	0	0	1	0	0	0	4111	913	32	5	479	5	CXorf48	23	134294425	Missense_Mutation	SNP	C	TCGA-FP-8099-01A-11D-2340-08	61861382	134294425	20976135	155	121774											
PDZD4	57595	broad.mit.edu	37	chrX	153072792	153072792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccctccataaactccGccgggtcataatactcatgg	9	15	2	0			TCGA-FP-8099-01A-11D-2340-08	TCGA-FP-8099-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3586481-ed72-4767-9679-09051e29f925	7cf5b9a5-a93c-4956-bb53-40d2cfea4994	g.chrX:153072792G>A	uc004fiz.1	-	3	579	c.329C>T	c.(328-330)GCG>GTG	p.A110V	PDZD4_uc004fiy.1_Missense_Mutation_p.A35V|PDZD4_uc004fix.2_Missense_Mutation_p.A14V|PDZD4_uc004fja.1_Missense_Mutation_p.A116V|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	110						cell cortex				breast(1)	1	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)					CATAAACTCCGCCGGGTCATA	0.672													A	153072792	G	A	153072792	3	1	243	1	0	0	0	0	1	0	0	0	11703	1087	38	1	2004	1	PDZD4	23	153072792	Missense_Mutation	SNP	G	TCGA-FP-8099-01A-11D-2340-08	18778367	153072792	2197768	156	121775											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-FP-8209-01A-11D-2340-08	TCGA-FP-8209-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b379db23-0a52-4758-8511-6ab09c95f18c	1b97b4d8-4c58-4014-8c82-7e933a3357ff	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	244	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-FP-8209-01A-11D-2340-08		56386384	24808826	1	121776											
JUND	3727	broad.mit.edu	37	chr19	18391902	18391902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgaactcctgctcctcGctggccgccaccttggggta	12	16	0	0			TCGA-FP-8209-01A-11D-2340-08	TCGA-FP-8209-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b379db23-0a52-4758-8511-6ab09c95f18c	1b97b4d8-4c58-4014-8c82-7e933a3357ff	g.chr19:18391902G>A	uc002nip.2	-	1	531	c.393C>T	c.(391-393)AGC>AGT	p.S131S	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	131					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CCTGCTCCTCGCTGGCCGCCA	0.572													A	18391902	G	A	18391902	2	1	244	1	0	0	0	0	0	0	0	1	7971	1078	38	1		1	JUND	19	18391902	Silent	SNP	G	TCGA-FP-8209-01A-11D-2340-08		18391902	40737081	2	121777											
CAPN2	824	broad.mit.edu	37	chr1	223943324	223943324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagatgggcgaggacatGcacaccatcggctttggcat	14	9	0	1			TCGA-FP-8210-01A-11D-2340-08	TCGA-FP-8210-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684ff3b4-a44b-46c5-8739-8dfcf614e534	5e6337c8-d4d5-48d8-9311-f286f2126e4e	g.chr1:223943324G>A	uc001hob.3	+	10	1502	c.1278G>A	c.(1276-1278)ATG>ATA	p.M426I	CAPN2_uc010puy.1_Missense_Mutation_p.M348I|CAPN2_uc001hoc.2_5'Flank	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	426	Domain III.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		GCGAGGACATGCACACCATCG	0.532													A	223943324	G	A	223943324	3	1	245	1	0	0	0	0	1	0	0	0	2627	1319	46	2	1323	2	CAPN2	1	223943324	Missense_Mutation	SNP	G	TCGA-FP-8210-01A-11D-2340-08		223943324	25307297	1	121778											
NTSR2	23620	broad.mit.edu	37	chr2	11802136	11802136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcggatccggcgcacGtctttatgtctcaccaggct	12	13	2	0	rs148062399	byFrequency	TCGA-FP-8210-01A-11D-2340-08	TCGA-FP-8210-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684ff3b4-a44b-46c5-8739-8dfcf614e534	5e6337c8-d4d5-48d8-9311-f286f2126e4e	g.chr2:11802136G>A	uc002rbq.3	-	2	929	c.855C>T	c.(853-855)GAC>GAT	p.D285D		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	285	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TCCGGCGCACGTCTTTATGTC	0.512													A	11802136	G	A	11802136	2	1	245	1	0	0	0	0	0	0	0	1	10711	1136	40	1		1	NTSR2	2	11802136	Silent	SNP	G	TCGA-FP-8210-01A-11D-2340-08		11802136	231397237	2	121779											
SLU7	10569	broad.mit.edu	37	chr5	159830390	159830390	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggttctcgagtttcatacaTgctattgtaaggccgcttcc	9	10	2	0			TCGA-FP-8210-01A-11D-2340-08	TCGA-FP-8210-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684ff3b4-a44b-46c5-8739-8dfcf614e534	5e6337c8-d4d5-48d8-9311-f286f2126e4e	g.chr5:159830390T>A	uc003lyg.2	-	16	1818	c.1663A>T	c.(1663-1665)ATG>TTG	p.M555L		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	555					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			ovary(1)	1	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)			GTTTCATACATGCTATTGTAA	0.483													A	159830390	T	A	159830390	3	1	245	1	0	0	0	0	1	0	0	0	14755	1464	51	5	101	5	SLU7	5	159830390	Missense_Mutation	SNP	T	TCGA-FP-8210-01A-11D-2340-08		159830390	21084870	3	121780											
SLC28A2	9153	broad.mit.edu	37	chr15	45564491	45564491	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattttattttattgtctgcAgcatcaatagtacctcaccg	5	9	3	0			TCGA-FP-8210-01A-11D-2340-08	TCGA-FP-8210-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684ff3b4-a44b-46c5-8739-8dfcf614e534	5e6337c8-d4d5-48d8-9311-f286f2126e4e	g.chr15:45564491A>G	uc001zva.2	+	16	1714	c.1649_splice	c.e16-2	p.T550_splice		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		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)		TATTGTCTGCAGCATCAATAG	0.483													G	45564491	A	G	45564491	5	3	245	1	0	0	0	0	0	0	1	0	14532	202	7	3	1705	3	SLC28A2	15	45564491	Splice_Site	SNP	A	TCGA-FP-8210-01A-11D-2340-08		45564491	56966901	4	121781											
TNRC6A	27327	broad.mit.edu	37	chr16	24834270	24834270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctgaacctccctcacGgaaatgctctggtccgctac	7	17	2	1			TCGA-FP-8210-01A-11D-2340-08	TCGA-FP-8210-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684ff3b4-a44b-46c5-8739-8dfcf614e534	5e6337c8-d4d5-48d8-9311-f286f2126e4e	g.chr16:24834270G>A	uc002dmm.2	+	24	5563	c.5449G>A	c.(5449-5451)GGA>AGA	p.G1817R	TNRC6A_uc010bxs.2_Missense_Mutation_p.G1564R|TNRC6A_uc002dmn.2_Missense_Mutation_p.G1515R|TNRC6A_uc002dmo.2_Missense_Mutation_p.G1456R|TNRC6A_uc002dmr.2_Missense_Mutation_p.G16R	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1817	Sufficient for interaction with EIF2C2.|RRM.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCTCCCTCACGGAAATGCTCT	0.522													A	24834270	G	A	24834270	3	1	245	1	0	0	0	0	1	0	0	0	16337	1117	39	1	5543	1	TNRC6A	16	24834270	Missense_Mutation	SNP	G	TCGA-FP-8210-01A-11D-2340-08		24834270	65520483	5	121782											
CDH1	999	broad.mit.edu	37	chr16	68844182	68844182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggtaaccgatcagaatgAcaacaagcccgaattcaccc	7	14	2	2			TCGA-FP-8210-01A-11D-2340-08	TCGA-FP-8210-11A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	684ff3b4-a44b-46c5-8739-8dfcf614e534	5e6337c8-d4d5-48d8-9311-f286f2126e4e	g.chr16:68844182A>G	uc002ewg.1	+	6	894	c.770A>G	c.(769-771)GAC>GGC	p.D257G	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D257G	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	257	Cadherin 1.|Extracellular (Potential).				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	p.?(2)|p.D257G(1)|p.D254fs*9(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		GATCAGAATGACAACAAGCCC	0.463			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				G	68844182	A	G	68844182	3	3	245	1	0	0	0	0	1	0	0	0	3095	275	10	3	792	3	CDH1	16	68844182	Missense_Mutation	SNP	A	TCGA-FP-8210-01A-11D-2340-08	44009912	68844182	21510571	6	121783											
PADI6	353238	broad.mit.edu	37	chr1	17721556	17721556	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taatgactggccacgtggatGagttcatgtgcttcatcccc	10	11	2	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:17721556G>C	uc001bak.1	+	13	1447	c.1447G>C	c.(1447-1449)GAG>CAG	p.E483Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	475					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCACGTGGATGAGTTCATGTG	0.552													C	17721556	G	C	17721556	3	2	246	1	0	0	0	0	1	0	0	0	11381	1291	45	5	1494	5	PADI6	1	17721556	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		17721556	231529065	1	121784											
MYCL1	4610	broad.mit.edu	37	chr1	40366943	40366943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggggaccaatcccggggGccgggtcccctgcgccggga	18	16	0	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:40366943G>A	uc001cer.1	-	2	381	c.164C>T	c.(163-165)GCC>GTC	p.A55V	MYCL1_uc001ces.1_Missense_Mutation_p.A55V|MYCL1_uc001cet.1_Missense_Mutation_p.A55V	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	55						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATCCCGGGGGCCGGGTCCCC	0.721			A		small cell lung 								A	40366943	G	A	40366943	3	1	246	1	0	0	0	0	1	0	0	0	10020	1203	42	2	1063	2	MYCL1	1	40366943	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	22645387	40366943	208883678	2	121785											
LPPR5	163404	broad.mit.edu	37	chr1	99470042	99470042	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagaggagcacggggggcacGgcgctgctgtcctccgggcc	18	13	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:99470042G>C	uc001dsb.2	-	1	408	c.186C>G	c.(184-186)GCC>GCG	p.A62A	uc001dsd.1_RNA|LPPR5_uc001dsc.2_Silent_p.A62A	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	62	Helical; (Potential).					integral to membrane	hydrolase activity				0						CGGGGGGCACGGCGCTGCTGT	0.697													C	99470042	G	C	99470042	2	2	246	1	0	0	0	0	0	0	0	1	8928	1103	39	5		5	LPPR5	1	99470042	Silent	SNP	G	TCGA-FP-8211-01A-11D-2340-08	59103099	99470042	149780579	3	121786											
RORC	6097	broad.mit.edu	37	chr1	151787828	151787828	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgttgctgctgttgccgCtgctgcagctgtttctgcac	11	13	1	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:151787828C>G	uc001ezh.2	-	5	480	c.372G>C	c.(370-372)CAG>CAC	p.Q124H	RORC_uc001ezg.2_Missense_Mutation_p.Q103H|RORC_uc010pdo.1_Missense_Mutation_p.Q178H|RORC_uc010pdp.1_Missense_Mutation_p.Q124H	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	124	Hinge (Potential).|Poly-Gln.				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			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			gctgttgccgctgctgcagct	0.498													G	151787828	C	G	151787828	3	3	246	1	0	0	0	0	1	0	0	0	13530	796	28	5	1212	5	RORC	1	151787828	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	52317786	151787828	97462793	4	121787											
RHBG	57127	broad.mit.edu	37	chr1	156351872	156351872	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctccagcccatccttgaatCaaaattcaaagtccaagaca	4	14	2	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:156351872C>A	uc010pho.1	+	7	1030	c.992C>A	c.(991-993)TCA>TAA	p.S331*	RHBG_uc010phm.1_Missense_Mutation_p.Q164K|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Nonsense_Mutation_p.S262*|RHBG_uc009wrz.2_Nonsense_Mutation_p.S299*|RHBG_uc001for.2_Nonsense_Mutation_p.S301*	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	331	Cytoplasmic (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					ATCCTTGAATCAAAATTCAAA	0.582													A	156351872	C	A	156351872	4	1	246	1	0	0	0	0	0	1	0	0	13324	838	29	5	1018	5	RHBG	1	156351872	Nonsense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	4564044	156351872	92898749	5	121788											
SLAMF8	56833	broad.mit.edu	37	chr1	159805026	159805026	+	Frame_Shift_Del	DEL	C	C	-													gtgggtccagagacagagaaCccccttgtgcaggatctgcc							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:159805025_159805025AC>A	uc001fue.4	+	4	1043	c.833_833AC>A	c.(832-834)aacfs	p.N278fs	VSIG8_uc001fug.1_3'UTR	NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	278						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GAGACAGAGAACCCCCTTGTG	0.488													-	159805026	C	-	159805026	7	5	246	1	0	1	0	1	0	0	0	0	14370	506	18	0	852	0	SLAMF8	1	159805026	Frame_Shift_Del	DEL	C	TCGA-FP-8211-01A-11D-2340-08	3453154	159805026	89445595	6	121789											
ADCY10	55811	broad.mit.edu	37	chr1	167839517	167839540	+	In_Frame_Del	DEL	GGTACTCAATTTTCATAAGTATCT	GGTACTCAATTTTCATAAGTATCT	-													gtgattcttaccttgggccaGgtactcaattttcataagta							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:167839516_167839539AGGTACTCAATTTTCATAAGTATCT>A	uc001ger.3	-	13	1870_1893	c.1572_1595AGATACTTATGAAAATTGAGTACCT>T	c.(1570-1596)cagatacttatgaaaattgagtacctg>caTg	p.524_532QILMKIEYL>H	ADCY10_uc010plj.2_In_Frame_Del_p.371_379QILMKIEYL>H|ADCY10_uc009wvk.3_In_Frame_Del_p.432_440QILMKIEYL>H|ADCY10_uc009wvl.3_In_Frame_Del_p.523_531QILMKIEYL>H	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	524					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|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						ACCTTGGGCCAGGTACTCAATTTTCATAAGTATCTGGCTTTTTC	0.371													-	167839540	GGTACTCAATTTTCATAAGTATCT	-	167839517	7	5	246	1	0	1	0	1	0	0	0	0	293	991	35	0	3318	0	ADCY10	1	167839517	In_Frame_Del	DEL	GGTACTCAATTTTCATAAGTATCT	TCGA-FP-8211-01A-11D-2340-08	8034491	167839517	81411104	7	121790											
GPR161	23432	broad.mit.edu	37	chr1	168066053	168066053	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgagggctttgcactgGttggccgagtagaccacacc	14	10	0	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:168066053G>C	uc001gfc.2	-	5	1106	c.792C>G	c.(790-792)AAC>AAG	p.N264K	GPR161_uc001gfb.2_Missense_Mutation_p.N132K|GPR161_uc010pll.1_Missense_Mutation_p.N174K|GPR161_uc010plm.1_Missense_Mutation_p.N150K|GPR161_uc009wvo.2_Missense_Mutation_p.N281K|GPR161_uc001gfd.2_Missense_Mutation_p.N264K|GPR161_uc010pln.1_Missense_Mutation_p.N284K|GPR161_uc001gfe.1_Missense_Mutation_p.N264K	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	264	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					CTTTGCACTGGTTGGCCGAGT	0.607													C	168066053	G	C	168066053	3	2	246	1	0	0	0	0	1	0	0	0	6665	1252	44	5	813	5	GPR161	1	168066053	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	226536	168066053	81184568	8	121791											
IGFN1	91156	broad.mit.edu	37	chr1	201193974	201193974	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgcaggggaaggaggtTgcccacagcttccgtatcag	13	12	1	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:201193974T>G	uc001gwc.2	+	10	2710	c.1938T>G	c.(1936-1938)GTT>GTG	p.V646V	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GGAAGGAGGTTGCCCACAGCT	0.607													G	201193974	T	G	201193974	2	3	246	1	0	0	0	0	0	0	0	1	7590	1799	63	5		5	IGFN1	1	201193974	Silent	SNP	T	TCGA-FP-8211-01A-11D-2340-08	33127921	201193974	48056647	9	121792											
CD46	4179	broad.mit.edu	37	chr1	207933057	207933057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttggagcggtaagcccCcaatatgtgaaagtaagtaa	10	7	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr1:207933057C>T	uc001hgc.2	+	4	619	c.463C>T	c.(463-465)CCA>TCA	p.P155S	CD46_uc001hgd.2_Missense_Mutation_p.P155S|CD46_uc001hge.2_Missense_Mutation_p.P155S|CD46_uc001hgf.2_Missense_Mutation_p.P155S|CD46_uc001hgg.2_Missense_Mutation_p.P155S|CD46_uc001hgh.2_Missense_Mutation_p.P155S|CD46_uc001hgi.2_Missense_Mutation_p.P155S|CD46_uc001hgj.2_Missense_Mutation_p.P155S|CD46_uc001hgk.2_Missense_Mutation_p.P155S|CD46_uc001hgl.2_Missense_Mutation_p.P155S|CD46_uc001hgm.2_Missense_Mutation_p.P155S|CD46_uc001hgn.2_Missense_Mutation_p.P155S|CD46_uc001hgo.2_Missense_Mutation_p.P155S|CD46_uc001hgp.2_Missense_Mutation_p.P155S	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	155	Extracellular (Potential).|Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						CGGTAAGCCCCCAATATGTGA	0.214													T	207933057	C	T	207933057	3	4	246	1	0	0	0	0	1	0	0	0	3018	623	22	4	477	4	CD46	1	207933057	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	6739083	207933057	41317564	10	121793											
KIAA1841	84542	broad.mit.edu	37	chr2	61324903	61324913	+	Frame_Shift_Del	DEL	AAGTTCATTGA	AAGTTCATTGA	-													gtggtttatcctactgcagcAagttcattgaatactgttgg							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:61324903_61324913delAAGTTCATTGA	uc002saw.3	+	12	1584_1594	c.1281_1291delAAGTTCATTGA	c.(1279-1293)GCAAGTTCATTGAATfs	p.A427fs	KIAA1841_uc002sax.3_Frame_Shift_Del_p.A281fs|KIAA1841_uc002say.2_Frame_Shift_Del_p.A427fs	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	427_431											0			Epithelial(17;0.193)			CTACTGCAGCAAGTTCATTGAATACTGTTGG	0.365													-	61324913	AAGTTCATTGA	-	61324903	7	5	246	1	0	1	0	1	0	0	0	0	8261	117	5	0	1319	0	KIAA1841	2	61324903	Frame_Shift_Del	DEL	AAGTTCATTGA	TCGA-FP-8211-01A-11D-2340-08		61324903	181874470	11	121794											
NR4A2	4929	broad.mit.edu	37	chr2	157186462	157186462	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccggacaggggcatttgGtacaagcaaggtggcttgac	15	8	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:157186462G>T	uc002tyz.3	-	3	659	c.237C>A	c.(235-237)TAC>TAA	p.Y79*	NR4A2_uc002tyx.3_Nonsense_Mutation_p.Y16*|NR4A2_uc010zcf.1_Nonsense_Mutation_p.Y79*|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	79					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			ovary(3)	3						GGGGCATTTGGTACAAGCAAG	0.527													T	157186462	G	T	157186462	4	4	246	1	0	0	0	0	0	1	0	0	10633	1256	44	5	1583	5	NR4A2	2	157186462	Nonsense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	95861559	157186462	86012911	12	121795											
DLX1	1745	broad.mit.edu	37	chr2	172950706	172950706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctcgcccagagccgcCtggaggacccaggtacgtgc	13	17	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:172950706C>G	uc002uhl.2	+	1	499	c.301C>G	c.(301-303)CTG>GTG	p.L101V	DLX1_uc010fqj.1_Missense_Mutation_p.L101V|DLX1_uc002uhm.2_Missense_Mutation_p.L101V	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCAGAGCCGCCTGGAGGACCC	0.433													G	172950706	C	G	172950706	3	3	246	1	0	0	0	0	1	0	0	0	4570	680	24	5	303	5	DLX1	2	172950706	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	15764244	172950706	70248667	13	121796											
TTLL4	9654	broad.mit.edu	37	chr2	219617528	219617528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctgacaccagatgatGttcggattctggttgagatg	12	7	1	4			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr2:219617528G>T	uc002viy.2	+	17	3389	c.3019G>T	c.(3019-3021)GTT>TTT	p.V1007F	TTLL4_uc010zkl.1_Missense_Mutation_p.V842F|TTLL4_uc010fvx.2_Missense_Mutation_p.V943F|TTLL4_uc010zkm.1_Missense_Mutation_p.V210F	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1007					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		ACCAGATGATGTTCGGATTCT	0.478													T	219617528	G	T	219617528	3	4	246	1	0	0	0	0	1	0	0	0	16726	1377	48	5	3077	5	TTLL4	2	219617528	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	46666822	219617528	23581845	14	121797											
SETD5	55209	broad.mit.edu	37	chr3	9512248	9512248	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaactcaggtcattctgacCtggctcctcatccctccctc	5	18	5	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:9512248C>G	uc003brt.2	+	19	3265	c.2830C>G	c.(2830-2832)CTG>GTG	p.L944V	SETD5_uc003bru.2_Missense_Mutation_p.L846V|SETD5_uc003brv.2_Missense_Mutation_p.L833V|SETD5_uc010hck.2_Missense_Mutation_p.L426V|SETD5_uc003brx.2_Missense_Mutation_p.L613V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	944										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCATTCTGACCTGGCTCCTCA	0.507													G	9512248	C	G	9512248	3	3	246	1	0	0	0	0	1	0	0	0	14134	680	24	5	2896	5	SETD5	3	9512248	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08		9512248	188510182	15	121798											
MTMR14	64419	broad.mit.edu	37	chr3	9712789	9712789	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgacatcaagctgcttcgAtacctgtcagtcaaatacat	6	10	3	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:9712789A>C	uc003brz.2	+	6	736	c.612A>C	c.(610-612)CGA>CGC	p.R204R	MTMR14_uc003bsa.2_Silent_p.R204R|MTMR14_uc003bsb.2_Silent_p.R204R|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	204						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					AGCTGCTTCGATACCTGTCAG	0.453													C	9712789	A	C	9712789	2	2	246	1	0	0	0	0	0	0	0	1	9942	320	12	5		5	MTMR14	3	9712789	Silent	SNP	A	TCGA-FP-8211-01A-11D-2340-08	200541	9712789	188309641	16	121799											
TSEN2	80746	broad.mit.edu	37	chr3	12538034	12538034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatatgaagacaaacatgCctatcatcacatcaaagagg	7	9	3	4			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:12538034C>T	uc003bxc.2	+	4	676	c.289C>T	c.(289-291)CCT>TCT	p.P97S	TSEN2_uc003bwy.2_Missense_Mutation_p.P97S|TSEN2_uc003bwz.2_Missense_Mutation_p.P97S|TSEN2_uc003bxa.2_Missense_Mutation_p.P97S|TSEN2_uc011auq.1_Missense_Mutation_p.P97S|TSEN2_uc003bxb.2_Missense_Mutation_p.P97S|TSEN2_uc011aur.1_Missense_Mutation_p.P6S	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	97					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						GACAAACATGCCTATCATCAC	0.358													T	12538034	C	T	12538034	3	4	246	1	0	0	0	0	1	0	0	0	16609	739	26	2	299	2	TSEN2	3	12538034	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	2825245	12538034	185484396	17	121800											
TSEN2	80746	broad.mit.edu	37	chr3	12560614	12560614	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgtagttcagcccacgttCagaaccacctacatggccta	7	14	2	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:12560614C>G	uc003bxc.2	+	8	1404	c.1017C>G	c.(1015-1017)TTC>TTG	p.F339L	TSEN2_uc003bwy.2_Missense_Mutation_p.F339L|TSEN2_uc003bwz.2_Missense_Mutation_p.F280L|TSEN2_uc003bxa.2_Missense_Mutation_p.F313L|TSEN2_uc011auq.1_Missense_Mutation_p.F313L|TSEN2_uc003bxb.2_Missense_Mutation_p.F339L|TSEN2_uc011aur.1_Missense_Mutation_p.F248L	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	339					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						AGCCCACGTTCAGAACCACCT	0.428													G	12560614	C	G	12560614	3	3	246	1	0	0	0	0	1	0	0	0	16609	825	29	5	1043	5	TSEN2	3	12560614	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	22580	12560614	185461816	18	121801											
ITIH4	3700	broad.mit.edu	37	chr3	52863229	52863229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaccactcggctggtgaCgaccgtgtgggcaaatcggg	15	10	0	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:52863229C>T	uc003dfz.2	-	2	193	c.157G>A	c.(157-159)GTC>ATC	p.V53I	ITIH4_uc003dfy.2_5'Flank|ITIH4_uc011bem.1_Missense_Mutation_p.V53I|ITIH4_uc011ben.1_Missense_Mutation_p.V53I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	53	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				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)		CGGCTGGTGACGACCGTGTGG	0.557													T	52863229	C	T	52863229	3	4	246	1	0	0	0	0	1	0	0	0	7906	536	19	1	2727	1	ITIH4	3	52863229	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	40302615	52863229	145159201	19	121802											
EPHA6	285220	broad.mit.edu	37	chr3	97356865	97356865	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaacttagtatgcaaagTttctgattttggtctctcca	7	8	2	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:97356865T>G	uc010how.1	+	14	2766	c.2723T>G	c.(2722-2724)GTT>GGT	p.V908G	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.V300G|EPHA6_uc003drr.3_Missense_Mutation_p.V300G|EPHA6_uc003drt.2_Missense_Mutation_p.V300G|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	813	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GTATGCAAAGTTTCTGATTTT	0.403													G	97356865	T	G	97356865	3	3	246	1	0	0	0	0	1	0	0	0	5171	1725	60	5	2845	5	EPHA6	3	97356865	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	44493636	97356865	100665565	20	121803											
ZBTB11	27107	broad.mit.edu	37	chr3	101383530	101383530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttggctgtttcatctttTttcctctttgaactaacttc	4	9	3	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:101383530T>C	uc003dve.3	-	5	1882	c.1652A>G	c.(1651-1653)AAA>AGA	p.K551R		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTTCATCTTTTTTCCTCTTTG	0.343													C	101383530	T	C	101383530	3	2	246	1	0	0	0	0	1	0	0	0	17521	1841	64	3	1537	3	ZBTB11	3	101383530	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	4026665	101383530	96638900	21	121804											
MYH15	22989	broad.mit.edu	37	chr3	108147527	108147527	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaaagtgcagagtggcctCttccatgtctcggtgcagct	11	12	3	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:108147527C>A	uc003dxa.1	-	28	3631	c.3574G>T	c.(3574-3576)GAG>TAG	p.E1192*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1192	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AGAGTGGCCTCTTCCATGTCT	0.498													A	108147527	C	A	108147527	4	1	246	1	0	0	0	0	0	1	0	0	10034	922	32	5	2326	5	MYH15	3	108147527	Nonsense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	6763997	108147527	89874903	22	121805											
ILDR1	286676	broad.mit.edu	37	chr3	121712708	121712711	+	Frame_Shift_Del	DEL	GAGG	GAGG	-													ggcagaggctgggccaggttGaggttccgcagttctttctc							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:121712707_121712710TGAGG>T	uc003ees.3	-	6	1089_1092	c.886_889CCTCA>A	c.(886-891)ctcaacfs	p.L296fs	ILDR1_uc003eeq.3_Frame_Shift_Del_p.L264fs|ILDR1_uc003eer.3_Frame_Shift_Del_p.L252fs|ILDR1_uc010hrg.3_Frame_Shift_Del_p.L207fs	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	296						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)		TGGGCCAGGTTGAGGTTCCGCAGT	0.593													-	121712711	GAGG	-	121712708	7	5	246	1	0	1	0	1	0	0	0	0	7709	1277	45	0	760	0	ILDR1	3	121712708	Frame_Shift_Del	DEL	GAGG	TCGA-FP-8211-01A-11D-2340-08	13565181	121712708	76309722	23	121806											
CP	1356	broad.mit.edu	37	chr3	148904424	148904424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtatattccatgtacatCggcctcatttccggcgctga	8	11	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:148904424C>T	uc003ewy.3	-	11	2213	c.1960G>A	c.(1960-1962)GAT>AAT	p.D654N	CP_uc011bnr.1_Intron|CP_uc003ewx.3_Missense_Mutation_p.D435N|CP_uc003ewz.2_Missense_Mutation_p.D654N|CP_uc010hvf.1_Missense_Mutation_p.D380N	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	654	Plastocyanin-like 4.|F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		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)	CCATGTACATCGGCCTCATTT	0.468													T	148904424	C	T	148904424	3	4	246	1	0	0	0	0	1	0	0	0	3787	884	31	1	1273	1	CP	3	148904424	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	27191716	148904424	49118006	24	121807											
PLD1	5337	broad.mit.edu	37	chr3	171451290	171451291	+	Nonsense_Mutation	DNP	CC	CC	AA													tatctttgtcaagtaatcttCcagttgtttctgtaatgcaa							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:171451290_171451291CC>AA	uc003fhs.2	-	6	665_666	c.549_550GG>TT	c.(547-552)CTGGAA>CTTTAA	p.E184*	PLD1_uc003fht.2_Nonsense_Mutation_p.E184*	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	184	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			ovary(2)|lung(1)	3	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)	AAGTAATCTTCCAGTTGTTTCT	0.282													AA	171451291	CC	AA	171451290	4	1	246	1	0	0	0	0	0	1	0	0	12045	864	30	5	2762	5	PLD1	3	171451290	Nonsense_Mutation	DNP	CC	TCGA-FP-8211-01A-11D-2340-08	22546866	171451290	26571140	25	121808											
ATP13A5	344905	broad.mit.edu	37	chr3	193002749	193002749	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctttcccttagaaaagatGaatgctactgtgatatagtt	9	6	0	4			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr3:193002749G>A	uc011bsq.1	-	27	3180	c.3180C>T	c.(3178-3180)TTC>TTT	p.F1060F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1060	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		TAGAAAAGATGAATGCTACTG	0.368													A	193002749	G	A	193002749	2	1	246	1	0	0	0	0	0	0	0	1	1127	1281	45	4		4	ATP13A5	3	193002749	Silent	SNP	G	TCGA-FP-8211-01A-11D-2340-08	21551459	193002749	5019681	26	121809											
HTT	3064	broad.mit.edu	37	chr4	3190679	3190703	+	Frame_Shift_Del	DEL	TTTCTATTACAACTGGTTGGTATTC	TTTCTATTACAACTGGTTGGTATTC	-													cttttttgtttcttggaaggTttctattacaactggttggt					rs61731805		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:3190678_3190702GTTTCTATTACAACTGGTTGGTATTC>G	uc021xkv.1	+	39	5371_5395	c.5226_5250GTTTCTATTACAACTGGTTGGTATTC>G	c.(5224-5250)aggtttctattacaactggttggtattfs	p.R1742fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1742					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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)		TTCTTGGAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAAG	0.347													-	3190703	TTTCTATTACAACTGGTTGGTATTC	-	3190679	7	5	246	1	0	1	0	1	0	0	0	0	7457	1739	60	0	5385	0	HTT	4	3190679	Frame_Shift_Del	DEL	TTTCTATTACAACTGGTTGGTATTC	TCGA-FP-8211-01A-11D-2340-08		3190679	187963597	27	121810											
DOK7	285489	broad.mit.edu	37	chr4	3478203	3478203	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggggcagtggaagctgtctGacctccggcgctacggggcc	17	13	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:3478203G>T	uc003ghd.2	+	4	536	c.466G>T	c.(466-468)GAC>TAC	p.D156Y	DOK7_uc003ghe.2_Silent_p.L21L	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	156	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GAAGCTGTCTGACCTCCGGCG	0.632													T	3478203	G	T	3478203	3	4	246	1	0	0	0	0	1	0	0	0	4702	1290	45	5	480	5	DOK7	4	3478203	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	287524	3478203	187676073	28	121811											
SEL1L3	23231	broad.mit.edu	37	chr4	25780794	25780794	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttccatgtgtccaccttgcGcagccttatggaaatattca	7	12	1	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:25780794G>C	uc003gru.3	-	16	2641	c.2489C>G	c.(2488-2490)GCG>GGG	p.A830G	SEL1L3_uc003grv.2_Missense_Mutation_p.A237G	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	830	Sel1-like 6.					integral to membrane	binding				0						TCCACCTTGCGCAGCCTTATG	0.468													C	25780794	G	C	25780794	3	2	246	1	0	0	0	0	1	0	0	0	14012	1087	38	5	945	5	SEL1L3	4	25780794	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	22302591	25780794	165373482	29	121812											
PPAT	5471	broad.mit.edu	37	chr4	57272680	57272680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctttttccttaatcgagcaGcatttaccaattcgccatta	4	12	0	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:57272680G>C	uc003hbr.2	-	3	585	c.383C>G	c.(382-384)GCT>GGT	p.A128G		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	128	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TAATCGAGCAGCATTTACCAA	0.378													C	57272680	G	C	57272680	3	2	246	1	0	0	0	0	1	0	0	0	12302	971	34	5	1206	5	PPAT	4	57272680	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	31491886	57272680	133881596	30	121813											
C4orf35	85438	broad.mit.edu	37	chr4	71200843	71200843	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaaccattttctttggGgctgacaatgctattcccaa	8	11	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:71200843G>T	uc003hff.2	+	1	173	c.87G>T	c.(85-87)GGG>GGT	p.G29G		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	29						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				TTTTCTTTGGGGCTGACAATG	0.408													T	71200843	G	T	71200843	2	4	246	1	0	0	0	0	0	0	0	1	2265	1219	43	5		5	C4orf35	4	71200843	Silent	SNP	G	TCGA-FP-8211-01A-11D-2340-08	13928163	71200843	119953433	31	121814											
PCDH10	57575	broad.mit.edu	37	chr4	134076151	134076151	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacagggagatagtgatcatGatgccaccaaccgtgcccag	11	11	1	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:134076151G>A	uc003iha.2	+	3	3596	c.2770G>A	c.(2770-2772)GAT>AAT	p.D924N		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	924	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TAGTGATCATGATGCCACCAA	0.408													A	134076151	G	A	134076151	3	1	246	1	0	0	0	0	1	0	0	0	11507	1290	45	4	2840	4	PCDH10	4	134076151	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	62875308	134076151	57078125	32	121815											
CTSO	1519	broad.mit.edu	37	chr4	156860571	156860571	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagagcctccattgcagccAtaattattatacgaacagtc	7	10	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:156860571A>G	uc003ipg.2	-	4	553	c.504T>C	c.(502-504)TAT>TAC	p.Y168Y		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	168					proteolysis	lysosome	cysteine-type endopeptidase activity				0	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)		CATTGCAGCCATAATTATTAT	0.433													G	156860571	A	G	156860571	2	3	246	1	0	0	0	0	0	0	0	1	4040	224	8	3		3	CTSO	4	156860571	Silent	SNP	A	TCGA-FP-8211-01A-11D-2340-08	22784420	156860571	34293705	33	121816											
FAT1	2195	broad.mit.edu	37	chr4	187527258	187527258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtttcccctggagaagAcgggcgcgttgtcattgaca	13	9	1	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr4:187527258A>G	uc003izf.2	-	17	10504	c.10316T>C	c.(10315-10317)GTC>GCC	p.V3439A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3439	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCTGGAGAAGACGGGCGCGTT	0.522										HNSCC(5;0.00058)			G	187527258	A	G	187527258	3	3	246	1	0	0	0	0	1	0	0	0	5689	275	10	3	3494	3	FAT1	4	187527258	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	30666687	187527258	3627018	34	121817											
PRLR	5618	broad.mit.edu	37	chr5	35065837	35065837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacatttggatccaccaGcatgaaaataggggattttg	10	6	0	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:35065837G>A	uc003jjm.2	-	10	1753	c.1223C>T	c.(1222-1224)GCT>GTT	p.A408V	PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A307V	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	408	Cytoplasmic (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGATCCACCAGCATGAAAATA	0.498													A	35065837	G	A	35065837	3	1	246	1	0	0	0	0	1	0	0	0	12531	971	34	2	649	2	PRLR	5	35065837	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		35065837	145849423	35	121818											
APC	324	broad.mit.edu	37	chr5	112175647	112175648	+	Frame_Shift_Ins	INS	-	-	GG													ctcaaaccaagcgagaagtaINScctaaaaataaagcacctac							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:112175646_112175647T>TGG	uc003kpz.4	+	16	4548_4549	c.4355_4356T>TGG	c.(4354-4356)gtafs	p.V1452fs	APC_uc011cvt.2_Frame_Shift_Ins_p.V1434fs|APC_uc003kpy.4_Frame_Shift_Ins_p.V1452fs|APC_uc010jbz.3_Frame_Shift_Ins_p.V1169fs|APC_uc010jca.3_Frame_Shift_Ins_p.V752fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1452	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.E1451*(4)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.E1451fs*23(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)		AAGCGAGAAGTACCTAAAAATA	0.49		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)			GG	112175648	-	GG	112175647	7	5	246	1	0	1	1	0	0	0	0	0	763	378	14	0	4414	0	APC	5	112175647	Frame_Shift_Ins	INS	-	TCGA-FP-8211-01A-11D-2340-08	77109810	112175647	68739613	36	121819											
APC	324	broad.mit.edu	37	chr5	112175683	112175683	+	Frame_Shift_Del	DEL	G	G	-													cctactgctgaaaagagagaGagtggacctaagcaagctgc					rs112961968		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:112175682_112175682AG>A	uc003kpz.4	+	16	4584	c.4391_4391AG>A	c.(4390-4392)gagfs	p.E1464fs	APC_uc011cvt.2_Frame_Shift_Del_p.E1446fs|APC_uc003kpy.4_Frame_Shift_Del_p.E1464fs|APC_uc010jbz.3_Frame_Shift_Del_p.E1181fs|APC_uc010jca.3_Frame_Shift_Del_p.E764fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1464	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.E1464fs*8(66)|p.E1464*(5)|p.R1463fs*6(1)|p.?(1)|p.K1454fs*3(1)|p.E1464K(1)|p.K1192fs*3(1)|p.S1465fs*4(1)|p.S1465fs*3(1)|p.R1463fs*10(1)|p.R1463S(1)|p.E1464D(1)|p.R1463*(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)		GAAAAGAGAGAGAGTGGACCT	0.453		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)			-	112175683	G	-	112175683	7	5	246	1	0	1	0	1	0	0	0	0	763	933	33	0	4450	0	APC	5	112175683	Frame_Shift_Del	DEL	G	TCGA-FP-8211-01A-11D-2340-08	36	112175683	68739577	37	121820											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731513	140731513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggtgctgtaccccgcGctggggcctgatggctccgc	15	16	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:140731513G>A	uc003ljo.1	+	1	1686	c.1686G>A	c.(1684-1686)GCG>GCA	p.A562A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.A562A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	562	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCCCGCGCTGGGGCCTG	0.692													A	140731513	G	A	140731513	2	1	246	1	0	0	0	0	0	0	0	1	11562	1074	38	1		1	PCDHGB1	5	140731513	Silent	SNP	G	TCGA-FP-8211-01A-11D-2340-08	28555830	140731513	40183747	38	121821											
CSF1R	1436	broad.mit.edu	37	chr5	149459897	149459897	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgttccagggccgggcagGgtctagagtagaggagggca	18	9	1	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:149459897G>T	uc003lrl.2	-	3	505	c.310C>A	c.(310-312)CCT>ACT	p.P104T	CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.P104T|CSF1R_uc011dce.1_Missense_Mutation_p.P104T|CSF1R_uc011dcf.1_Missense_Mutation_p.P104T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	104	Ig-like C2-type 1.|Extracellular (Potential).				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			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCCGGGCAGGGTCTAGAGTA	0.607													T	149459897	G	T	149459897	3	4	246	1	0	0	0	0	1	0	0	0	3932	1232	43	5	2684	5	CSF1R	5	149459897	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	8728384	149459897	31455363	39	121822											
CDHR2	54825	broad.mit.edu	37	chr5	176016062	176016062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgattcagggaacaatggcGtcatcctgttctccatcctc	8	12	3	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:176016062G>A	uc003mem.1	+	22	2953	c.2887G>A	c.(2887-2889)GTC>ATC	p.V963I	CDHR2_uc003men.1_Missense_Mutation_p.V963I	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	963	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GAACAATGGCGTCATCCTGTT	0.587													A	176016062	G	A	176016062	3	1	246	1	0	0	0	0	1	0	0	0	3119	1145	40	1	2969	1	CDHR2	5	176016062	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	26556165	176016062	4899198	40	121823											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545650	179545650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagggagcggtgggccgCcccgcgcagggctgtcctgt	18	14	1	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr5:179545650C>T	uc003mlq.2	-	9	1339	c.1042G>A	c.(1042-1044)GCG>ACG	p.A348T	RASGEF1C_uc003mlr.2_Missense_Mutation_p.A348T|RASGEF1C_uc003mlp.3_Missense_Mutation_p.A197T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	348	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	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)			CGGTGGGCCGCCCCGCGCAGG	0.667													T	179545650	C	T	179545650	3	4	246	1	0	0	0	0	1	0	0	0	13071	739	26	2	378	2	RASGEF1C	5	179545650	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	3529588	179545650	1369610	41	121824											
LPA	4018	broad.mit.edu	37	chr6	160963737	160963737	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccttgttctgagactgacTtgccagggccaggaatgtgg	13	9	1	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr6:160963737T>A	uc003qtl.2	-	35	5622	c.5502A>T	c.(5500-5502)CAA>CAT	p.Q1834H		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4342	Peptidase S1.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	TGAGACTGACTTGCCAGGGCC	0.507													A	160963737	T	A	160963737	3	1	246	1	0	0	0	0	1	0	0	0	8903	1606	56	5	644	5	LPA	6	160963737	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08		160963737	10151330	42	121825											
SP4	6671	broad.mit.edu	37	chr7	21550647	21550647	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttttctatgtaggtgaaaaGagatttgaatgcccggaatg	11	4	1	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:21550647G>C	uc003sva.2	+	6	2296	c.2115G>C	c.(2113-2115)AAG>AAC	p.K705N	SP4_uc003svb.2_Missense_Mutation_p.K392N	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	705					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TAGGTGAAAAGAGATTTGAAT	0.358													C	21550647	G	C	21550647	3	2	246	1	0	0	0	0	1	0	0	0	14966	933	33	5	2137	5	SP4	7	21550647	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		21550647	137588016	43	121826											
NUPL2	11097	broad.mit.edu	37	chr7	23226692	23226692	+	Frame_Shift_Del	DEL	G	G	-													gaaggaattgtaaaagatatGgaggtttgggaatcatcagg							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:23226691_23226691TG>T	uc003svu.3	+	2	630	c.371_371TG>T	c.(370-372)atgfs	p.M124fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	124	Interaction with HIV-1 Vpr.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTAAAAGATATGGAGGTTTGG	0.313													-	23226692	G	-	23226692	7	5	246	1	0	1	0	1	0	0	0	0	10775	1348	47	0	382	0	NUPL2	7	23226692	Frame_Shift_Del	DEL	G	TCGA-FP-8211-01A-11D-2340-08	1676045	23226692	135911971	44	121827											
CCDC129	223075	broad.mit.edu	37	chr7	31682578	31682578	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaagaccaccacgaggggaGaatgcccaaggaaagacagc	12	12	0	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:31682578G>T	uc003tcj.1	+	11	2587	c.1594G>T	c.(1594-1596)GAA>TAA	p.E532*	CCDC129_uc011kad.1_Nonsense_Mutation_p.E542*|CCDC129_uc003tci.1_Nonsense_Mutation_p.E383*|CCDC129_uc011kae.1_Nonsense_Mutation_p.E558*|CCDC129_uc003tck.1_Nonsense_Mutation_p.E440*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	532											0						CACGAGGGGAGAATGCCCAAG	0.542													T	31682578	G	T	31682578	4	4	246	1	0	0	0	0	0	1	0	0	2764	943	33	5	1632	5	CCDC129	7	31682578	Nonsense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	8455886	31682578	127456085	45	121828											
SEPT14	346288	broad.mit.edu	37	chr7	55910721	55910721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtaaagacacacgtggaCgcgagaatcatggtactcaa	11	8	2	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:55910721C>T	uc003tqz.2	-	5	589	c.472G>A	c.(472-474)GTC>ATC	p.V158I		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	158					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACACGTGGACGCGAGAATCA	0.393													T	55910721	C	T	55910721	3	4	246	1	0	0	0	0	1	0	0	0	14063	536	19	1	850	1	SEPT14	7	55910721	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	24228143	55910721	103227942	46	121829											
GRM3	2913	broad.mit.edu	37	chr7	86416131	86416131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctacttccagagcctcaaCccctacaacaaccaccgcaa	4	19	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:86416131C>A	uc003uid.2	+	3	2122	c.1023C>A	c.(1021-1023)AAC>AAA	p.N341K	GRM3_uc010lef.2_Missense_Mutation_p.N339K|GRM3_uc010leg.2_Missense_Mutation_p.N213K|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	341	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGAGCCTCAACCCCTACAACA	0.612													A	86416131	C	A	86416131	3	1	246	1	0	0	0	0	1	0	0	0	6798	506	18	5	1029	5	GRM3	7	86416131	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	30505410	86416131	72722532	47	121830											
CUL1	8454	broad.mit.edu	37	chr7	148497615	148497615	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatgcattgacattctaattGagaaagaatatttggagcga	9	4	1	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:148497615G>C	uc010lpg.2	+	22	2798	c.2272G>C	c.(2272-2274)GAG>CAG	p.E758Q	CUL1_uc003wey.2_Missense_Mutation_p.E758Q|CUL1_uc003wez.2_Missense_Mutation_p.E648Q|CUL1_uc003wfa.2_Missense_Mutation_p.E419Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	758					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATTCTAATTGAGAAAGAATA	0.408													C	148497615	G	C	148497615	3	2	246	1	0	0	0	0	1	0	0	0	4054	1291	45	5	2354	5	CUL1	7	148497615	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	62081484	148497615	10641048	48	121831											
GIMAP6	474344	broad.mit.edu	37	chr7	150325594	150325594	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtcttctgttctttctccCttagacctagaaatatccaa	6	11	4	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr7:150325594C>G	uc003whn.2	-	3	516	c.92G>C	c.(91-93)AGG>ACG	p.R31T	GIMAP6_uc003whm.2_Intron	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	31							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTTTCTCCCTTAGACCTAG	0.532													G	150325594	C	G	150325594	3	3	246	1	0	0	0	0	1	0	0	0	6383	681	24	5	790	5	GIMAP6	7	150325594	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	1827979	150325594	8813069	49	121832											
TMEM71	137835	broad.mit.edu	37	chr8	133764031	133764031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatatgctctgcttacCtaactaagttctccttatac	4	11	2	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:133764031C>A	uc003ytp.2	-	4	543	c.314G>T	c.(313-315)AGG>ATG	p.R105M	TMEM71_uc003ytn.2_Missense_Mutation_p.S105I|TMEM71_uc003yto.2_Missense_Mutation_p.R105M	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	105						integral to membrane				ovary(2)	2	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)			CTCTGCTTACCTAACTAAGTT	0.318													A	133764031	C	A	133764031	3	1	246	1	0	0	0	0	1	0	0	0	16197	695	24	5	601	5	TMEM71	8	133764031	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08		133764031	12599991	50	121833											
PHF20L1	51105	broad.mit.edu	37	chr8	133844573	133844573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttctctggcttcacgaaGcatgtttacggagaaaacta	10	8	2	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:133844573G>A	uc003ytt.2	+	15	2163	c.1838G>A	c.(1837-1839)AGC>AAC	p.S613N	PHF20L1_uc011lja.1_Missense_Mutation_p.S587N	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	613							nucleic acid binding|zinc ion binding			ovary(2)	2	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)			GCTTCACGAAGCATGTTTACG	0.423													A	133844573	G	A	133844573	3	1	246	1	0	0	0	0	1	0	0	0	11832	971	34	2	1988	2	PHF20L1	8	133844573	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	80542	133844573	12519449	51	121834											
ZNF696	79943	broad.mit.edu	37	chr8	144378436	144378436	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagagcttcaacctcctCcggcaccagcgcgtgcacac	10	18	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:144378436C>T	uc003yxy.3	+	3	1000	c.591C>T	c.(589-591)CTC>CTT	p.L197L		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	197	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			TCAACCTCCTCCGGCACCAGC	0.731													T	144378436	C	T	144378436	2	4	246	1	0	0	0	0	0	0	0	1	18096	842	30	4		4	ZNF696	8	144378436	Silent	SNP	C	TCGA-FP-8211-01A-11D-2340-08	10533863	144378436	1985586	52	121835											
LRRC14	9684	broad.mit.edu	37	chr8	145746159	145746159	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcacctgtctgcgtgagctCagcatgggctcctctctcct	9	15	4	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr8:145746159C>G	uc003zdk.1	+	3	1013	c.867C>G	c.(865-867)CTC>CTG	p.L289L	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Silent_p.L289L|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	289	LRR 1.										0	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)			TGCGTGAGCTCAGCATGGGCT	0.632													G	145746159	C	G	145746159	2	3	246	1	0	0	0	0	0	0	0	1	8968	813	29	5		5	LRRC14	8	145746159	Silent	SNP	C	TCGA-FP-8211-01A-11D-2340-08	1367723	145746159	617863	53	121836											
KANK1	23189	broad.mit.edu	37	chr9	711323	711323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggcccaggctggccaGttttggaggcatgggcacca	15	11	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:711323G>A	uc003zgl.1	+	7	1206	c.557G>A	c.(556-558)AGT>AAT	p.S186N	KANK1_uc003zgm.2_Missense_Mutation_p.S186N|KANK1_uc003zgn.1_Missense_Mutation_p.S186N|KANK1_uc003zgo.1_Missense_Mutation_p.S186N|KANK1_uc003zgp.1_Missense_Mutation_p.S186N|KANK1_uc003zgq.2_Missense_Mutation_p.S28N|KANK1_uc003zgr.1_Missense_Mutation_p.S28N|KANK1_uc003zgs.1_Missense_Mutation_p.S28N	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	186					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		AGGCTGGCCAGTTTTGGAGGC	0.542													A	711323	G	A	711323	3	1	246	1	0	0	0	0	1	0	0	0	7976	1029	36	4	563	4	KANK1	9	711323	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		711323	140502108	54	121837											
ELAVL2	1993	broad.mit.edu	37	chr9	23701496	23701496	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttattagcaaactttacagtGattggctccgtggcaccggg	11	9	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:23701496G>C	uc003zpu.2	-	5	869	c.594C>G	c.(592-594)ATC>ATG	p.I198M	ELAVL2_uc003zps.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpt.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpv.2_Missense_Mutation_p.I198M|ELAVL2_uc003zpw.2_Missense_Mutation_p.I198M	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	198	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACTTTACAGTGATTGGCTCCG	0.488													C	23701496	G	C	23701496	3	2	246	1	0	0	0	0	1	0	0	0	5050	1280	45	5	497	5	ELAVL2	9	23701496	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	22990173	23701496	117511935	55	121838											
PRUNE2	158471	broad.mit.edu	37	chr9	79323163	79323163	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacaccagaggcgatcacctCctcttcatcaaggtgccccc	7	18	4	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:79323163C>A	uc010mpk.2	-	8	4151	c.4027G>T	c.(4027-4029)GAG>TAG	p.E1343*		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1343					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GCGATCACCTCCTCTTCATCA	0.512													A	79323163	C	A	79323163	4	1	246	1	0	0	0	0	0	1	0	0	12641	864	30	5	5287	5	PRUNE2	9	79323163	Nonsense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	55621667	79323163	61890268	56	121839											
OR1L3	26735	broad.mit.edu	37	chr9	125438067	125438067	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatcatcatctcttatctaaGaattctcatcgctgttctca	3	11	6	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:125438067G>A	uc011lzb.1	+	1	659	c.659G>A	c.(658-660)AGA>AAA	p.R220K		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCTTATCTAAGAATTCTCATC	0.478													A	125438067	G	A	125438067	3	1	246	1	0	0	0	0	1	0	0	0	10964	942	33	4	661	4	OR1L3	9	125438067	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	46114904	125438067	15775364	57	121840											
LHX3	8022	broad.mit.edu	37	chr9	139092519	139092519	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgcacttgagacactTgctgtgccagtggcggtcca	13	12	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr9:139092519T>A	uc004cha.2	-	2	257	c.160A>T	c.(160-162)AAG>TAG	p.K54*	LHX3_uc004cgz.2_Nonsense_Mutation_p.K59*	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	54	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			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TTGAGACACTTGCTGTGCCAG	0.612													A	139092519	T	A	139092519	4	1	246	1	0	0	0	0	0	1	0	0	8772	1821	63	5	1053	5	LHX3	9	139092519	Nonsense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	13654452	139092519	2120912	58	121841											
C10orf53	282966	broad.mit.edu	37	chr10	50916559	50916559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgtattggcccagattGgatcatgtatccatttccaa	8	9	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:50916559G>A	uc001jid.1	+	3	430	c.370G>A	c.(370-372)GGA>AGA	p.G124R		NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	Error:Variant_position_missing_in_Q8N6V4_after_alignment											0		all_neural(218;0.107)				ggcccagattggatcatgtat	0													A	50916559	G	A	50916559	3	1	246	1	0	0	0	0	1	0	0	0	1606	1349	47	4	449	4	C10orf53	10	50916559	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		50916559	84618188	59	121842											
CDH23	64072	broad.mit.edu	37	chr10	73494045	73494045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgtgagaagggcgacttcTataccttgacagtggtggca	13	9	1	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:73494045T>C	uc001jrx.3	+	32	4530	c.4153T>C	c.(4153-4155)TAT>CAT	p.Y1385H	C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.Y193H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1385	Cadherin 13.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGGCGACTTCTATACCTTGAC	0.622													C	73494045	T	C	73494045	3	2	246	1	0	0	0	0	1	0	0	0	3108	1522	53	3	4628	3	CDH23	10	73494045	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	22577486	73494045	62040702	60	121843											
PTEN	5728	broad.mit.edu	37	chr10	89717665	89717666	+	Frame_Shift_Ins	INS	-	-	C													tatattcctccaattcaggaINScccacacgacgggaagacaa							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:89717665_89717666insC	uc001kfb.2	+	8	1721_1722	c.690_691insC	c.(688-693)GGACCCfs	p.G230fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	230_231	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.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		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)		CCAATTCAGGACCCACACGACG	0.426		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89717666	-	C	89717665	7	5	246	1	0	1	1	0	0	0	0	0	12738	262	10	0	716	0	PTEN	10	89717665	Frame_Shift_Ins	INS	-	TCGA-FP-8211-01A-11D-2340-08	16223620	89717665	45817082	61	121844	624	2									
PTEN	5728	broad.mit.edu	37	chr10	89717666	89717667	+	Frame_Shift_Ins	INS	-	-	C													atattcctccaattcaggacINSccacacgacgggaagacaag							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr10:89717665_89717666A>AC	uc001kfb.3	+	6	1722_1723	c.690_691A>AC	c.(688-693)ggacccfs	p.G230fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	230	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.P231fs*12(2)|p.G230fs*26(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(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)		CCAATTCAGGACCCACACGACG	0.426		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)			C	89717667	-	C	89717666	7	5	246	1	0	1	1	0	0	0	0	0	12738	507	18	0	717	0	PTEN	10	89717666	Frame_Shift_Ins	INS	-	TCGA-FP-8211-01A-11D-2340-08	1	89717666	45817081	62	121845	624	2									
MUC6	4588	broad.mit.edu	37	chr11	1016973	1016974	+	Frame_Shift_Del	DEL	GT	GT	-													gggttctggtgcctgtactgGtgtgtttgggggtgatgttg					rs71472140		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:1016972_1016973GGT>G	uc001lsw.2	-	30	5879_5880	c.5828_5829ACC>C	c.(5827-5829)accfs	p.T1943fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1943	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (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)		TGCCTGTACTGGTGTGTTTGGG	0.574													-	1016974	GT	-	1016973	7	5	246	1	0	1	0	1	0	0	0	0	9980	1261	44	0	1503	0	MUC6	11	1016973	Frame_Shift_Del	DEL	GT	TCGA-FP-8211-01A-11D-2340-08		1016973	133989543	63	121846											
CD81	975	broad.mit.edu	37	chr11	2415369	2415369	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgtcatgatgttcgttGgcttcctgggctgctacggg	15	10	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:2415369G>C	uc001lwf.1	+	3	459	c.226G>C	c.(226-228)GGC>CGC	p.G76R	CD81_uc001lwg.1_Missense_Mutation_p.G69R|CD81_uc001lwh.1_5'Flank	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	76	Helical; (Potential).				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				0		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)		GATGTTCGTTGGCTTCCTGGG	0.662													C	2415369	G	C	2415369	3	2	246	1	0	0	0	0	1	0	0	0	3039	1348	47	5	236	5	CD81	11	2415369	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	1398396	2415369	132591147	64	121847											
TRPM5	29850	broad.mit.edu	37	chr11	2436698	2436698	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacctcctccaggtcacAggacttggcggccatgggca	11	15	2	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:2436698A>C	uc001lwm.3	-	9	1141	c.1132T>G	c.(1132-1134)TGT>GGT	p.C378G	TRPM5_uc010qxl.1_Missense_Mutation_p.C378G|TRPM5_uc009ydn.2_Missense_Mutation_p.C380G	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	378	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		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)		TCCAGGTCACAGGACTTGGCG	0.632													C	2436698	A	C	2436698	3	2	246	1	0	0	0	0	1	0	0	0	16586	188	7	5	2429	5	TRPM5	11	2436698	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	21329	2436698	132569818	65	121848											
OR4A15	81328	broad.mit.edu	37	chr11	55136271	55136271	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgactgtagttctaacTtttataactcccatgctgaa	5	10	1	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:55136271T>G	uc010rif.1	+	1	912	c.912T>G	c.(910-912)ACT>ACG	p.T304T		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	304	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TAGTTCTAACTTTTATAACTC	0.383													G	55136271	T	G	55136271	2	3	246	1	0	0	0	0	0	0	0	1	11040	1596	56	5		5	OR4A15	11	55136271	Silent	SNP	T	TCGA-FP-8211-01A-11D-2340-08	52699573	55136271	79870245	66	121849											
INTS5	80789	broad.mit.edu	37	chr11	62416240	62416240	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagctggattaGccggtcacaagcctcacgca	11	14	2	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:62416240G>C	uc001nud.2	-	2	1365	c.1312C>G	c.(1312-1314)CTA>GTA	p.L438V	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	438					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AGCTGGATTAGCCGGTCACAA	0.637													C	62416240	G	C	62416240	3	2	246	1	0	0	0	0	1	0	0	0	7781	962	34	5	1751	5	INTS5	11	62416240	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	7279969	62416240	72590276	67	121850											
C11orf2	738	broad.mit.edu	37	chr11	64875938	64875938	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcggcccagggcccagCaggtgccgagaagctggcgg	18	12	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:64875938C>G	uc001ocr.1	+	5	1035	c.995C>G	c.(994-996)GCA>GGA	p.A332G	C11orf2_uc001ocs.1_Missense_Mutation_p.A208G	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	332					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CAGGGCCCAGCAGGTGCCGAG	0.692													G	64875938	C	G	64875938	3	3	246	1	0	0	0	0	1	0	0	0	1633	710	25	5	1013	5	C11orf2	11	64875938	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	2459698	64875938	70130578	68	121851											
KLC2	64837	broad.mit.edu	37	chr11	66026228	66026228	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagccgagcctggctcgCaggagcgctgcatcctcctg	14	15	0	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:66026228C>G	uc010rov.1	+	2	406	c.163C>G	c.(163-165)CAG>GAG	p.Q55E	KLC2_uc010row.1_Missense_Mutation_p.Q55E|KLC2_uc009yra.2_Missense_Mutation_p.Q55E|KLC2_uc001ohb.2_Missense_Mutation_p.Q55E|KLC2_uc010rox.1_Missense_Mutation_p.Q55E|KLC2_uc001ohc.2_Missense_Mutation_p.Q55E|KLC2_uc001ohd.2_Missense_Mutation_p.Q55E|KLC2_uc001ohe.1_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	55					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						GCCTGGCTCGCAGGAGCGCTG	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	66026228	C	G	66026228	3	3	246	1	0	0	0	0	1	0	0	0	8334	711	25	5	165	5	KLC2	11	66026228	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	1150290	66026228	68980288	69	121852											
PHOX2A	401	broad.mit.edu	37	chr11	71950893	71950893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccgccggctgccaagccTtaagtagttcggccgctccc	10	17	0	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:71950893T>C	uc001osh.3	-	3	927	c.755A>G	c.(754-756)AAG>AGG	p.K252R		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	252					noradrenergic neuron differentiation|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				0						CTGCCAAGCCTTAAGTAGTTC	0.731													C	71950893	T	C	71950893	3	2	246	1	0	0	0	0	1	0	0	0	11858	1609	56	3	103	3	PHOX2A	11	71950893	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	5924665	71950893	63055623	70	121853											
GPR83	10888	broad.mit.edu	37	chr11	94129639	94129639	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtactgggcaaagcggcTgacatggcacatgcccttcc	12	13	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:94129639T>G	uc001pet.2	-	2	611	c.439A>C	c.(439-441)AGC>CGC	p.S147R		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	147	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAAAGCGGCTGACATGGCAC	0.542													G	94129639	T	G	94129639	3	3	246	1	0	0	0	0	1	0	0	0	6713	1580	55	5	844	5	GPR83	11	94129639	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	22178746	94129639	40876877	71	121854											
HMBS	3145	broad.mit.edu	37	chr11	118963856	118963856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgacccacagttggtaGgcatcactgctcgtaacatt	10	10	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr11:118963856G>A	uc001puz.1	+	14	1106	c.949G>A	c.(949-951)GGC>AGC	p.G317S	HMBS_uc001pvc.1_Missense_Mutation_p.G262S|HMBS_uc009zap.1_Missense_Mutation_p.G300S|HMBS_uc001pva.1_Missense_Mutation_p.G277S|HMBS_uc001pvb.1_Missense_Mutation_p.G286S|HMBS_uc001pvd.1_Missense_Mutation_p.G300S|HMBS_uc001pve.1_Missense_Mutation_p.G260S|HMBS_uc001pvf.1_Missense_Mutation_p.G300S	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	317					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		ACAGTTGGTAGGCATCACTGC	0.502									Porphyria_Acute_Intermittent				A	118963856	G	A	118963856	3	1	246	1	0	0	0	0	1	0	0	0	7219	1000	35	4	1003	4	HMBS	11	118963856	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	24834217	118963856	16042660	72	121855											
TEAD4	7004	broad.mit.edu	37	chr12	3126584	3126584	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggcagctaaggacaaGgccctgcagagcatggctgc	14	12	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:3126584G>C	uc010sej.1	+	6	649	c.372G>C	c.(370-372)AAG>AAC	p.K124N	TEAD4_uc010sek.1_Intron|TEAD4_uc001qln.2_5'UTR	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	125					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTAAGGACAAGGCCCTGCAGA	0.567													C	3126584	G	C	3126584	3	2	246	1	0	0	0	0	1	0	0	0	15738	991	35	5	389	5	TEAD4	12	3126584	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		3126584	130725311	73	121856											
CD163	9332	broad.mit.edu	37	chr12	7649454	7649454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtgattgcaataatgctTtccccattcatggtgtttac	7	8	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:7649454T>C	uc001qsz.3	-	5	1182	c.1054A>G	c.(1054-1056)AAG>GAG	p.K352E	CD163_uc001qta.3_Missense_Mutation_p.K352E|CD163_uc009zfw.2_Missense_Mutation_p.K352E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	352	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CAATAATGCTTTCCCCATTCA	0.353													C	7649454	T	C	7649454	3	2	246	1	0	0	0	0	1	0	0	0	2967	1850	64	3	2464	3	CD163	12	7649454	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	4522870	7649454	126202441	74	121857											
SLC2A3	6515	broad.mit.edu	37	chr12	8082432	8082432	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcatctcctggatgtcttGggatacatcctgggtgcccc	10	12	3	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:8082432G>C	uc001qtr.2	-	6	971	c.709C>G	c.(709-711)CAA>GAA	p.Q237E	SLC2A3_uc001qts.2_3'UTR	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	237	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TGGATGTCTTGGGATACATCC	0.483													C	8082432	G	C	8082432	3	2	246	1	0	0	0	0	1	0	0	0	14545	1357	47	5	801	5	SLC2A3	12	8082432	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	432978	8082432	125769463	75	121858											
BIN2	51411	broad.mit.edu	37	chr12	51685395	51685396	+	Missense_Mutation	DNP	GG	GG	TT													ctgagatgtcattaaggtggGggaagtacaaagttcttcag							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:51685395_51685396GG>TT	uc001ryg.2	-	10	1546_1547	c.1494_1495CC>AA	c.(1492-1497)TCCCCC>TCAACC	p.P499T	BIN2_uc009zlz.2_Missense_Mutation_p.P467T|BIN2_uc001ryh.2_Missense_Mutation_p.P375T|BIN2_uc010sng.1_Missense_Mutation_p.P473T	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	499						cytoplasm	protein binding			ovary(1)	1						ATTAAGGTGGGGGAAGTACAAA	0.317													TT	51685396	GG	TT	51685395	3	4	246	1	0	0	0	0	1	0	0	0	1433	1232	43	5	218	5	BIN2	12	51685395	Missense_Mutation	DNP	GG	TCGA-FP-8211-01A-11D-2340-08	43602963	51685395	82166500	76	121859											
KRT84	3890	broad.mit.edu	37	chr12	52779341	52779341	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agttgcccacccggtgaccaGagctgactcggtaggagcgg	15	12	0	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:52779341G>T	uc001sah.1	-	1	77	c.29C>A	c.(28-30)TCT>TAT	p.S10Y		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	10	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGGTGACCAGAGCTGACTCG	0.572													T	52779341	G	T	52779341	3	4	246	1	0	0	0	0	1	0	0	0	8498	942	33	5	1809	5	KRT84	12	52779341	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	1093946	52779341	81072554	77	121860											
C12orf50	160419	broad.mit.edu	37	chr12	88379779	88379779	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattctccgcatttcgatttTtattattgcggtgataactc	6	9	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr12:88379779T>A	uc001tam.1	-	11	1142	c.974A>T	c.(973-975)AAA>ATA	p.K325I	C12orf50_uc001tan.2_Missense_Mutation_p.K340I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	325										skin(2)|ovary(1)	3						ATTTCGATTTTTATTATTGCG	0.483													A	88379779	T	A	88379779	3	1	246	1	0	0	0	0	1	0	0	0	1695	1841	64	5	282	5	C12orf50	12	88379779	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	35600438	88379779	45472116	78	121861											
NBEA	26960	broad.mit.edu	37	chr13	35926334	35926334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatagaagagaggaagAaaagatgtgtgaccatctta	12	4	1	6			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:35926334A>G	uc001uvb.2	+	38	6259	c.6053A>G	c.(6052-6054)GAA>GGA	p.E2018G	NBEA_uc010abi.2_Missense_Mutation_p.E674G	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2018						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AGAGAGGAAGAAAAGATGTGT	0.338													G	35926334	A	G	35926334	3	3	246	1	0	0	0	0	1	0	0	0	10187	246	9	3	6203	3	NBEA	13	35926334	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08		35926334	79243544	79	121862											
NBEA	26960	broad.mit.edu	37	chr13	36229748	36229748	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agattgtatttggccattggGatgtggtcacttgcttggcc	13	7	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:36229748G>C	uc001uvb.2	+	54	8367	c.8161G>C	c.(8161-8163)GAT>CAT	p.D2721H	NBEA_uc010abi.2_Missense_Mutation_p.D1377H|NBEA_uc010tef.1_Missense_Mutation_p.D514H|NBEA_uc001uvd.2_Missense_Mutation_p.D299H	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2721	WD 2.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TGGCCATTGGGATGTGGTCAC	0.463													C	36229748	G	C	36229748	3	2	246	1	0	0	0	0	1	0	0	0	10187	1174	41	5	8375	5	NBEA	13	36229748	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	303414	36229748	78940130	80	121863											
TBC1D4	9882	broad.mit.edu	37	chr13	76055892	76055892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatcctgaatgcagctGggcggctccataactctcgc	11	14	2	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:76055892G>A	uc001vjl.1	-	1	359	c.12C>T	c.(10-12)CCC>CCT	p.P4P	TBC1D4_uc010aer.2_Silent_p.P4P|TBC1D4_uc010aes.2_Silent_p.P4P	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	4						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAATGCAGCTGGGCGGCTCCA	0.731													A	76055892	G	A	76055892	2	1	246	1	0	0	0	0	0	0	0	1	15619	1335	47	4		4	TBC1D4	13	76055892	Silent	SNP	G	TCGA-FP-8211-01A-11D-2340-08	39826144	76055892	39113986	81	121864											
CUL4A	8451	broad.mit.edu	37	chr13	113887618	113887618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtggaccggagcctgTtgcggagcctcctgggcatg	17	12	0	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr13:113887618T>C	uc010tjy.1	+	7	651	c.640T>C	c.(640-642)TTG>CTG	p.L214L	CUL4A_uc010tjx.1_Silent_p.L114L|CUL4A_uc010agu.2_Silent_p.L75L|CUL4A_uc001vtl.1_5'Flank	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	214					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			central_nervous_system(2)|skin(1)	3	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)			CCGGAGCCTGTTGCGGAGCCT	0.542													C	113887618	T	C	113887618	2	2	246	1	0	0	0	0	0	0	0	1	4057	1722	60	3		3	CUL4A	13	113887618	Silent	SNP	T	TCGA-FP-8211-01A-11D-2340-08	37831726	113887618	1282260	82	121865											
FSCB	84075	broad.mit.edu	37	chr14	44974327	44974327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctggtggaggctgaaCttcagcgggggcctcctcag	15	12	3	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr14:44974327C>A	uc001wvn.2	-	1	2173	c.1864G>T	c.(1864-1866)GTT>TTT	p.V622F		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	622	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GGAGGCTGAACTTCAGCGGGG	0.632													A	44974327	C	A	44974327	3	1	246	1	0	0	0	0	1	0	0	0	6066	565	20	5	617	5	FSCB	14	44974327	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08		44974327	62375213	83	121866											
NRXN3	9369	broad.mit.edu	37	chr14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaggcaacagtgaccGccccctgaatgacaaccagt	9	13	1	3	rs140528152		TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr14:79433613G>A	uc001xun.2	+	10	2212	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R699H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	947	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423													A	79433613	G	A	79433613	3	1	246	1	0	0	0	0	1	0	0	0	10667	1087	38	1	1751	1	NRXN3	14	79433613	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	34459286	79433613	27915927	84	121867											
DLL4	54567	broad.mit.edu	37	chr15	41222285	41222285	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcggcggggggcgcaaccctCtccaactgcccttcaatttc	11	16	2	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:41222285C>A	uc001zng.1	+	2	627	c.307C>A	c.(307-309)CTC>ATC	p.L103I		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	103	Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		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)		GCGCAACCCTCTCCAACTGCC	0.682											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	41222285	C	A	41222285	3	1	246	1	0	0	0	0	1	0	0	0	4568	913	32	5	313	5	DLL4	15	41222285	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08		41222285	61309107	85	121868											
SPTBN5	51332	broad.mit.edu	37	chr15	42159828	42159828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagctccccaaggcactggTtttcagggagacctggatcc	12	13	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:42159828T>G	uc001zos.2	-	35	6448	c.6115A>C	c.(6115-6117)ACC>CCC	p.T2039P	hsa-mir-4310|MI0015840_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2074	Spectrin 17.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		AAGGCACTGGTTTTCAGGGAG	0.572													G	42159828	T	G	42159828	3	3	246	1	0	0	0	0	1	0	0	0	15121	1725	60	5	4940	5	SPTBN5	15	42159828	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08	937543	42159828	60371564	86	121869											
ANKDD1A	348094	broad.mit.edu	37	chr15	65209596	65209596	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgggcaggtgggcagggtGgccctgcactgggctgcagg	20	11	0	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:65209596G>T	uc002aoa.2	+	3	179	c.150G>T	c.(148-150)GTG>GTT	p.V50V	ANKDD1A_uc002anx.1_Silent_p.V50V|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_Silent_p.V20V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	50	ANK 2.				signal transduction					ovary(1)	1						TGGGCAGGGTGGCCCTGCACT	0.677													T	65209596	G	T	65209596	2	4	246	1	0	0	0	0	0	0	0	1	624	1335	47	5		5	ANKDD1A	15	65209596	Silent	SNP	G	TCGA-FP-8211-01A-11D-2340-08	23049768	65209596	37321796	87	121870											
IGDCC3	9543	broad.mit.edu	37	chr15	65623827	65623827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcactccaggacacacgcAcctcagtggaagacacagag	10	14	2	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:65623827A>G	uc002aos.2	-	8	1571	c.1319T>C	c.(1318-1320)GTG>GCG	p.V440A	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	440	Extracellular (Potential).|Fibronectin type-III 1.									ovary(3)	3						GGACACACGCACCTCAGTGGA	0.647													G	65623827	A	G	65623827	3	3	246	1	0	0	0	0	1	0	0	0	7568	159	6	3	1153	3	IGDCC3	15	65623827	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	414231	65623827	36907565	88	121871											
CHRNB4	1143	broad.mit.edu	37	chr15	78927920	78927920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctccgcattggccacgCggcagttccctgagaaaaca	9	14	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:78927920C>T	uc002bed.1	-	2	177	c.65G>A	c.(64-66)CGC>CAC	p.R22H	CHRNB4_uc002bee.1_Missense_Mutation_p.R22H|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	22	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						ATTGGCCACGCGGCAGTTCCC	0.587													T	78927920	C	T	78927920	3	4	246	1	0	0	0	0	1	0	0	0	3393	768	27	1	1451	1	CHRNB4	15	78927920	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	13304093	78927920	23603472	89	121872											
AGBL1	123624	broad.mit.edu	37	chr15	86838542	86838542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggtctacttccggcaAgatgttctctgccagacgct	10	11	2	3			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr15:86838542A>G	uc002blz.1	+	16	2219	c.2139A>G	c.(2137-2139)CAA>CAG	p.Q713Q	AGBL1_uc002bma.1_Silent_p.Q444Q|AGBL1_uc002bmb.1_Silent_p.Q407Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	713					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ACTTCCGGCAAGATGTTCTCT	0.483													G	86838542	A	G	86838542	2	3	246	1	0	0	0	0	0	0	0	1	375	69	3	3		3	AGBL1	15	86838542	Silent	SNP	A	TCGA-FP-8211-01A-11D-2340-08	7910622	86838542	15692850	90	121873											
WDR90	197335	broad.mit.edu	37	chr16	708999	708999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctgggatgtcctggCccctactgagaggcaagtgc	12	13	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr16:708999C>A	uc002cii.1	+	24	3053	c.2999C>A	c.(2998-3000)GCC>GAC	p.A1000D	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.A527D|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.A174D|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1000	WD 11.									ovary(1)	1		Hepatocellular(780;0.0218)				GATGTCCTGGCCCCTACTGAG	0.637													A	708999	C	A	708999	3	1	246	1	0	0	0	0	1	0	0	0	17334	739	26	5	3093	5	WDR90	16	708999	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08		708999	89645754	91	121874											
ZNF423	23090	broad.mit.edu	37	chr16	49670809	49670809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagttgcaggccgtgcAgcggtacatcttcttctcat	10	13	3	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr16:49670809A>G	uc002efs.2	-	5	2552	c.2254T>C	c.(2254-2256)TGC>CGC	p.C752R	ZNF423_uc010vgn.1_Missense_Mutation_p.C635R	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	752	C2H2-type 18.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CAGGCCGTGCAGCGGTACATC	0.587													G	49670809	A	G	49670809	3	3	246	1	0	0	0	0	1	0	0	0	17895	188	7	3	1620	3	ZNF423	16	49670809	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	48961810	49670809	40683944	92	121875											
NFAT5	10725	broad.mit.edu	37	chr16	69727070	69727070	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctctctttcatagtccAaatcctattgtccacagtca	5	12	4	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr16:69727070A>C	uc002exm.1	+	12	4496	c.3288A>C	c.(3286-3288)CCA>CCC	p.P1096P	NFAT5_uc002exi.2_Silent_p.P1020P|NFAT5_uc002exj.1_Silent_p.P1020P|NFAT5_uc002exk.1_Silent_p.P1020P|NFAT5_uc002exl.1_Silent_p.P1114P|NFAT5_uc002exn.1_Silent_p.P1113P|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1096					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCATAGTCCAAATCCTATTG	0.438													C	69727070	A	C	69727070	2	2	246	1	0	0	0	0	0	0	0	1	10360	117	5	5		5	NFAT5	16	69727070	Silent	SNP	A	TCGA-FP-8211-01A-11D-2340-08	20056261	69727070	20627683	93	121876											
ITGAE	3682	broad.mit.edu	37	chr17	3657208	3657208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcttgtgcagcacggCcacagcgtaacctggggcaa	14	12	1	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:3657208C>T	uc002fwo.3	-	13	1495	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	466	FG-GAP 4.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCAGCACGGCCACAGCGTAA	0.632													T	3657208	C	T	3657208	3	4	246	1	0	0	0	0	1	0	0	0	7885	739	26	2	2219	2	ITGAE	17	3657208	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08		3657208	77538002	94	121877											
MYO15A	51168	broad.mit.edu	37	chr17	18022229	18022229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtcgcggctgttcatgGgcttccgcgaccgtacaccc	13	15	1	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:18022229G>A	uc010vxh.1	+	2	453	c.115G>A	c.(115-117)GGC>AGC	p.G39S		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	39	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCTGTTCATGGGCTTCCGCGA	0.458													A	18022229	G	A	18022229	3	1	246	1	0	0	0	0	1	0	0	0	10063	1232	43	4	117	4	MYO15A	17	18022229	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	14365021	18022229	63172981	95	121878											
NF1	4763	broad.mit.edu	37	chr17	29509580	29509580	+	Frame_Shift_Del	DEL	G	G	-													ttttgctgaaagcaccaaacGtaaagcagcagtttggccac							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:29509579_29509579CG>C	uc002hgg.3	+	7	1167	c.784_784CG>C	c.(784-786)cgtfs	p.R262fs	NF1_uc002hge.2_Frame_Shift_Del_p.R262fs|NF1_uc002hgf.2_Frame_Shift_Del_p.R262fs|NF1_uc002hgh.3_Frame_Shift_Del_p.R262fs|NF1_uc010csn.2_Frame_Shift_Del_p.R122fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	262					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	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)		AAGCACCAAACGTAAAGCAGC	0.353			"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)			-	29509580	G	-	29509580	7	5	246	1	0	1	0	1	0	0	0	0	10356	1145	40	0	815	0	NF1	17	29509580	Frame_Shift_Del	DEL	G	TCGA-FP-8211-01A-11D-2340-08	11487351	29509580	51685630	96	121879											
DHX8	1659	broad.mit.edu	37	chr17	41598738	41598738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccactgcttggcaggAtaaacaagcccttgcagatc	9	13	0	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:41598738A>G	uc002idu.1	+	21	3141	c.3068A>G	c.(3067-3069)GAT>GGT	p.D1023G	DHX8_uc010wig.1_Missense_Mutation_p.D1023G	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1023						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCTTGGCAGGATAAACAAGCC	0.493													G	41598738	A	G	41598738	3	3	246	1	0	0	0	0	1	0	0	0	4515	347	12	3	3150	3	DHX8	17	41598738	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	12089158	41598738	39596472	97	121880											
TMUB2	79089	broad.mit.edu	37	chr17	42268059	42268059	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcggccactgagccacccAgccttggtgtcaatgtgggc	12	15	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:42268059A>T	uc002ifo.2	+	4	950	c.793A>T	c.(793-795)AGC>TGC	p.S265C	TMUB2_uc002ifp.2_Missense_Mutation_p.S245C|TMUB2_uc010wiu.1_Missense_Mutation_p.S208C|TMUB2_uc002ifq.2_Missense_Mutation_p.S265C|TMUB2_uc002ifr.2_3'UTR|TMUB2_uc002ifs.2_Missense_Mutation_p.S96C|TMUB2_uc002ift.2_Missense_Mutation_p.S245C|TMUB2_uc002ifu.2_3'UTR|TMUB2_uc002ifv.2_Missense_Mutation_p.S245C|TMUB2_uc002ifx.2_3'UTR|TMUB2_uc002ify.2_RNA	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	265				S -> R (in Ref. 5; CAD38755).		integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGAGCCACCCAGCCTTGGTGT	0.587													T	42268059	A	T	42268059	3	4	246	1	0	0	0	0	1	0	0	0	16262	188	7	5	803	5	TMUB2	17	42268059	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	669321	42268059	38927151	98	121881											
PPP1R9B	84687	broad.mit.edu	37	chr17	48212917	48212918	+	Splice_Site	DEL	CC	CC	-													cacagggcgccccaggcccaCcttgtccaggagcttgtcca							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:48212917_48212918delCC	uc002iqh.3	-	11	2403	c.2400_splice	c.e11+1	p.K800_splice		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B						cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity				0						CCCAGGCCCACCTTGTCCAGGA	0.639													-	48212918	CC	-	48212917	8	5	246	1	0	1	0	1	0	0	1	0	12379	521	18	0	60	0	PPP1R9B	17	48212917	Splice_Site	DEL	CC	TCGA-FP-8211-01A-11D-2340-08	5944858	48212917	32982293	99	121882											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	246	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-FP-8211-01A-11D-2340-08	8173467	56386384	24808826	100	121883											
MFSD11	79157	broad.mit.edu	37	chr17	74740462	74740462	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attagccttgtggggacagtTctattctttctcattcggaa	9	8	3	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr17:74740462T>A	uc002jta.2	+	8	1528	c.555T>A	c.(553-555)GTT>GTA	p.V185V	MFSD11_uc002jtb.2_Silent_p.V185V|MFSD11_uc010dha.2_Silent_p.V133V|MFSD11_uc002jtc.2_Silent_p.V185V|MFSD11_uc002jtd.3_Silent_p.V185V|MFSD11_uc010dhb.2_Silent_p.V133V|MFSD11_uc002jte.2_Silent_p.V185V	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	185	Helical; (Potential).					integral to membrane				ovary(1)	1						TGGGGACAGTTCTATTCTTTC	0.418													A	74740462	T	A	74740462	2	1	246	1	0	0	0	0	0	0	0	1	9529	1770	62	5		5	MFSD11	17	74740462	Silent	SNP	T	TCGA-FP-8211-01A-11D-2340-08	18354078	74740462	6454748	101	121884											
CDH2	1000	broad.mit.edu	37	chr18	25582961	25582961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtttttggttggcttacTtctcgatcaagtccagctgc	10	9	2	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr18:25582961T>C	uc002kwg.2	-	7	1479	c.1020A>G	c.(1018-1020)GAA>GAG	p.E340E	CDH2_uc010xbn.1_Silent_p.E309E	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	340	Extracellular (Potential).|Cadherin 2.				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			ovary(3)|lung(1)	4						GTTGGCTTACTTCTCGATCAA	0.398													C	25582961	T	C	25582961	2	2	246	1	0	0	0	0	0	0	0	1	3105	1623	56	3		3	CDH2	18	25582961	Silent	SNP	T	TCGA-FP-8211-01A-11D-2340-08		25582961	52494287	102	121885											
PTBP1	5725	broad.mit.edu	37	chr19	799436	799436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccagatatagccgttgGtacaaaggtaggcacttctc	10	10	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:799436G>C	uc002lpr.2	+	2	138	c.32G>C	c.(31-33)GGT>GCT	p.G11A	PTBP1_uc002lpp.2_Missense_Mutation_p.G11A|PTBP1_uc002lpq.2_Missense_Mutation_p.G11A|PTBP1_uc002lps.2_Missense_Mutation_p.G11A|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_5'UTR	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	11					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			kidney(1)|skin(1)	2		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)		ATAGCCGTTGGTACAAAGGTA	0.597											OREG0025110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	799436	G	C	799436	3	2	246	1	0	0	0	0	1	0	0	0	12725	1261	44	5	38	5	PTBP1	19	799436	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		799436	58329547	103	121886											
DNAJB1	3337	broad.mit.edu	37	chr19	14629110	14629110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaggcccgcttgatctcctCgtccgacgcgccgcgggcca	13	17	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:14629110C>T	uc002myz.1	-	1	92	c.52G>A	c.(52-54)GAG>AAG	p.E18K	DNAJB1_uc010xnr.1_Intron	NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	18	J.				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(1328;0.0476)		TTGATCTCCTCGTCCGACGCG	0.701													T	14629110	C	T	14629110	3	4	246	1	0	0	0	0	1	0	0	0	4615	893	31	1	982	1	DNAJB1	19	14629110	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	13829674	14629110	44499873	104	121887											
COPE	11316	broad.mit.edu	37	chr19	19030124	19030124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctacctccccggagcCgccggaggccgggccggggg	17	17	1	0			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:19030124C>T	uc002nkk.2	-	1	76	c.34G>A	c.(34-36)GGC>AGC	p.G12S	COPE_uc002nkl.2_Missense_Mutation_p.G12S|COPE_uc002nkm.2_Missense_Mutation_p.G12S|COPE_uc002nkn.2_Missense_Mutation_p.G12S|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkq.1_5'Flank|DDX49_uc002nkr.1_5'Flank|DDX49_uc002nks.1_5'Flank|DDX49_uc002nkt.1_5'Flank	NM_007263	NP_009194	O14579	COPE_HUMAN	epsilon subunit of coatomer protein complex	12					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				0						TCCCCGGAGCCGCCGGAGGCC	0.647													T	19030124	C	T	19030124	3	4	246	1	0	0	0	0	1	0	0	0	3730	652	23	1	932	1	COPE	19	19030124	Missense_Mutation	SNP	C	TCGA-FP-8211-01A-11D-2340-08	4401014	19030124	40098859	105	121888											
ZNF682	91120	broad.mit.edu	37	chr19	20117898	20117898	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaattttgctaggtagagttGacaaacattggttaagtcca	9	5	0	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:20117898G>C	uc002noq.2	-	4	536	c.413C>G	c.(412-414)TCA>TGA	p.S138*	ZNF682_uc002noo.2_Nonsense_Mutation_p.S106*|ZNF682_uc002nop.2_Nonsense_Mutation_p.S106*|ZNF682_uc010eck.2_Nonsense_Mutation_p.S62*	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						AGGTAGAGTTGACAAACATTG	0.323													C	20117898	G	C	20117898	4	2	246	1	0	0	0	0	0	1	0	0	18086	1294	45	5	1087	5	ZNF682	19	20117898	Nonsense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	1087774	20117898	39011085	106	121889											
ZNF536	9745	broad.mit.edu	37	chr19	30935410	30935410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcttcgcaggaggaggAgctcatcagccacgtggaga	16	11	2	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:30935410A>G	uc002nsu.1	+	2	1079	c.941A>G	c.(940-942)GAG>GGG	p.E314G	ZNF536_uc010edd.1_Missense_Mutation_p.E314G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	314	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CAGGAGGAGGAGCTCATCAGC	0.652													G	30935410	A	G	30935410	3	3	246	1	0	0	0	0	1	0	0	0	17971	304	11	3	943	3	ZNF536	19	30935410	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	10817512	30935410	28193573	107	121890											
RYR1	6261	broad.mit.edu	37	chr19	39063921	39063921	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgatgacgtgaaggggcaGtgggaccgactggtgctcaa	17	8	1	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr19:39063921G>C	uc002oit.2	+	96	14233	c.14103G>C	c.(14101-14103)CAG>CAC	p.Q4701H	RYR1_uc002oiu.2_Missense_Mutation_p.Q4696H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4701					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAAGGGGCAGTGGGACCGAC	0.632													C	39063921	G	C	39063921	3	2	246	1	0	0	0	0	1	0	0	0	13768	1020	36	5	14485	5	RYR1	19	39063921	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	8128511	39063921	20065062	108	121891											
RSPO4	343637	broad.mit.edu	37	chr20	947920	947920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgcaccggatgcagaaGtcctggctgaagcagctctc	11	13	2	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr20:947920G>T	uc002wej.2	-	3	403	c.306C>A	c.(304-306)GAC>GAA	p.D102E	RSPO4_uc002wek.2_Missense_Mutation_p.D102E	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	102	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						GGATGCAGAAGTCCTGGCTGA	0.602													T	947920	G	T	947920	3	4	246	1	0	0	0	0	1	0	0	0	13712	1020	36	5	410	5	RSPO4	20	947920	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		947920	62077600	109	121892											
NCAM2	4685	broad.mit.edu	37	chr21	22664463	22664463	+	Frame_Shift_Del	DEL	T	T	-													aaacaataacctgcagattcTcaacatcaataaaagtgatg							TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr21:22664463delT	uc002yld.1	+	5	770	c.521delT	c.(520-522)CTCfs	p.L174fs	NCAM2_uc011acb.1_Frame_Shift_Del_p.L32fs|NCAM2_uc011acc.1_Frame_Shift_Del_p.L199fs	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	174	Ig-like C2-type 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		CTGCAGATTCTCAACATCAAT	0.398													-	22664463	T	-	22664463	7	5	246	1	0	1	0	1	0	0	0	0	10203	1551	54	0	539	0	NCAM2	21	22664463	Frame_Shift_Del	DEL	T	TCGA-FP-8211-01A-11D-2340-08		22664463	25465432	110	121893											
SFRS15	57466	broad.mit.edu	37	chr21	33064675	33064675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcacattaattgattcaAttggaccaaactcttccaag	4	11	3	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr21:33064675A>G	uc002ypd.2	-	13	2027	c.1601T>C	c.(1600-1602)ATT>ACT	p.I534T	SFRS15_uc002ype.2_Missense_Mutation_p.I534T|SFRS15_uc010glu.2_Missense_Mutation_p.I519T|SFRS15_uc002ypf.1_Missense_Mutation_p.I208T	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	534	RRM.					nucleus	nucleotide binding|RNA binding				0						AATTGATTCAATTGGACCAAA	0.264													G	33064675	A	G	33064675	3	3	246	1	0	0	0	0	1	0	0	0	14171	101	4	3	1874	3	SFRS15	21	33064675	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08	10400212	33064675	15065220	111	121894											
VPREB1	7441	broad.mit.edu	37	chr22	22599522	22599522	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaggttcctgctgagaTatttctcacaatcagacaag	7	12	2	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr22:22599522T>A	uc002zvx.1	+	2	237	c.211T>A	c.(211-213)TAT>AAT	p.Y71N	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	71	Complementarity-determining-2.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding				0	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)		CCTGCTGAGATATTTCTCACA	0.587													A	22599522	T	A	22599522	3	1	246	1	0	0	0	0	1	0	0	0	17183	1406	49	5	217	5	VPREB1	22	22599522	Missense_Mutation	SNP	T	TCGA-FP-8211-01A-11D-2340-08		22599522	28705044	112	121895											
C22orf23	84645	broad.mit.edu	37	chr22	38343297	38343297	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccctcacttactggtggcttGaggcttgaactgctcccggc	11	14	1	2			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chr22:38343297G>C	uc003auj.1	-	4	431	c.340C>G	c.(340-342)CAA>GAA	p.Q114E	C22orf23_uc003auk.1_Missense_Mutation_p.Q114E	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	hypothetical protein LOC84645	114											0	Melanoma(58;0.045)					CTGGTGGCTTGAGGCTTGAAC	0.637													C	38343297	G	C	38343297	3	2	246	1	0	0	0	0	1	0	0	0	2137	1299	45	5	329	5	C22orf23	22	38343297	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08	15743775	38343297	12961269	113	121896											
RGAG4	340526	broad.mit.edu	37	chrX	71349892	71349892	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctgctaggctgtattAtgggaggtgatgcacccagg	14	9	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chrX:71349892A>T	uc010nlh.1	-	1	1860	c.1499T>A	c.(1498-1500)ATA>AAA	p.I500K	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	500										ovary(2)|skin(1)	3	Renal(35;0.156)					AGGCTGTATTATGGGAGGTGA	0.552													T	71349892	A	T	71349892	3	4	246	1	0	0	0	0	1	0	0	0	13275	449	16	5	214	5	RGAG4	23	71349892	Missense_Mutation	SNP	A	TCGA-FP-8211-01A-11D-2340-08		71349892	83920668	114	121897											
BTK	695	broad.mit.edu	37	chrX	100629566	100629566	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatttttttcaggaaccacTgtttcaacacaagtgatctt	7	8	3	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chrX:100629566T>A	uc004ehg.2	-	3	391	c.198A>T	c.(196-198)ACA>ACT	p.T66T	BTK_uc010nnn.2_Silent_p.T66T|BTK_uc010nno.2_Silent_p.T100T|BTK_uc004ehi.2_Silent_p.T66T	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	66	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			lung(3)|central_nervous_system(2)|ovary(1)	6						CAGGAACCACTGTTTCAACAC	0.403									Agammaglobulinemia_X-linked				A	100629566	T	A	100629566	2	1	246	1	0	0	0	0	0	0	0	1	1557	1567	55	5		5	BTK	23	100629566	Silent	SNP	T	TCGA-FP-8211-01A-11D-2340-08	29279674	100629566	54640994	115	121898											
DDX3Y	8653	broad.mit.edu	37	chrY	15029365	15029365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactatcgacaaagtagtgGttccagcagttctggctttg	11	8	1	1			TCGA-FP-8211-01A-11D-2340-08	TCGA-FP-8211-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479cf699-65e0-4a01-8183-314eb85c1b45	14408e43-3d4b-4db1-9d2f-22924b798223	g.chrY:15029365G>T	uc004fsu.1	+	17	2123	c.1814G>T	c.(1813-1815)GGT>GTT	p.G605V	DDX3Y_uc004fsv.2_Missense_Mutation_p.G605V|DDX3Y_uc010nww.1_Missense_Mutation_p.G421V|DDX3Y_uc011nar.1_Missense_Mutation_p.G602V	NM_001122665	NP_001116137	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,	605						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding				0						CAAAGTAGTGGTTCCAGCAGT	0.458													T	15029365	G	T	15029365	3	4	246	1	0	0	0	0	1	0	0	0	4359	1261	44	5	1876	5	DDX3Y	24	15029365	Missense_Mutation	SNP	G	TCGA-FP-8211-01A-11D-2340-08		15029365	44344201	116	121899											
FBLIM1	54751	broad.mit.edu	37	chr1	16097029	16097029	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccagctggctgggcagagcTtctaccagaaggatgggcga	16	10	1	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:16097029T>A	uc001axd.1	+	7	1110	c.667T>A	c.(667-669)TTC>ATC	p.F223I	FBLIM1_uc001axe.1_Missense_Mutation_p.F223I|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.F223I|FBLIM1_uc001axh.1_Missense_Mutation_p.F126I|FBLIM1_uc001axi.1_Missense_Mutation_p.F126I	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	223	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TGGGCAGAGCTTCTACCAGAA	0.537													A	16097029	T	A	16097029	3	1	247	1	0	0	0	0	1	0	0	0	5697	1609	56	5	681	5	FBLIM1	1	16097029	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08		16097029	233153592	1	121900											
ARID1A	8289	broad.mit.edu	37	chr1	27057803	27057804	+	Frame_Shift_Del	DEL	CA	CA	-													accttcgtatcagcagcagcCacagtctcaaccaccacagc							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:27057802_27057803CCA>C	uc001bmv.1	+	2	1883_1884	c.1510_1511CCA>C	c.(1510-1512)ccafs	p.P504fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P504fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P504fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P121fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	504					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.P504fs*125(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)		TCAGCAGCAGCCACAGTCTCAA	0.609			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27057804	CA	-	27057803	7	5	247	1	0	1	0	1	0	0	0	0	913	594	21	0	1521	0	ARID1A	1	27057803	Frame_Shift_Del	DEL	CA	TCGA-FP-8631-01A-11D-2394-08	10960774	27057803	222192818	2	121901											
MACF1	23499	broad.mit.edu	37	chr1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G													gatgaggaagatagtggcagINSggaaatttttctgtcatgca							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			AGATAGTGGCAGGGAAATTTTT	0.391													G	39799061	-	G	39799060	7	5	247	1	0	1	1	0	0	0	0	0	9144	1000	35	0	6891	0	MACF1	1	39799060	Frame_Shift_Ins	INS	-	TCGA-FP-8631-01A-11D-2394-08	12741257	39799060	209451561	3	121902											
SLC6A9	6536	broad.mit.edu	37	chr1	44476517	44476517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgccccgtttgaggttcTggtccctcttggtggcctcg	13	12	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:44476517T>C	uc001cll.2	-	3	479	c.287A>G	c.(286-288)CAG>CGG	p.Q96R	SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Missense_Mutation_p.Q23R|SLC6A9_uc001clm.2_Missense_Mutation_p.Q42R|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.Q42R|SLC6A9_uc001cln.2_Missense_Mutation_p.Q23R|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	96	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TTTGAGGTTCTGGTCCCTCTT	0.597													C	44476517	T	C	44476517	3	2	247	1	0	0	0	0	1	0	0	0	14691	1580	55	3	1881	3	SLC6A9	1	44476517	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08	4677457	44476517	204774104	4	121903											
CD101	9398	broad.mit.edu	37	chr1	117564313	117564313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccttcagttagccattatTtggtatttttctcctgtttc	5	9	2	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:117564313T>G	uc010oxb.1	+	7	2194	c.2136T>G	c.(2134-2136)ATT>ATG	p.I712M	CD101_uc009whd.2_Missense_Mutation_p.I712M|CD101_uc010oxc.1_Missense_Mutation_p.I712M|CD101_uc010oxd.1_Missense_Mutation_p.I650M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	712	Ig-like C2-type 6.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TAGCCATTATTTGGTATTTTT	0.428													G	117564313	T	G	117564313	3	3	247	1	0	0	0	0	1	0	0	0	2962	1829	64	5	2162	5	CD101	1	117564313	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08	73087796	117564313	131686308	5	121904											
TTF2	8458	broad.mit.edu	37	chr1	117641498	117641498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgaccgaatttaccgaGtagggcagcagaaagatgtt	12	7	0	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:117641498G>A	uc001egy.2	+	22	3333	c.3313G>A	c.(3313-3315)GTA>ATA	p.V1105I		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	1105	Helicase C-terminal.				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			ovary(1)	1	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)		AATTTACCGAGTAGGGCAGCA	0.403													A	117641498	G	A	117641498	3	1	247	1	0	0	0	0	1	0	0	0	16716	1029	36	4	3399	4	TTF2	1	117641498	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	77185	117641498	131609123	6	121905											
ADAR	103	broad.mit.edu	37	chr1	154574725	154574725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggtagatactcagttcCtggaaatgtgaggaaaggca	12	6	2	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:154574725C>T	uc001ffh.2	-	2	593	c.393G>A	c.(391-393)CAG>CAA	p.Q131Q	ADAR_uc001ffj.2_Silent_p.Q131Q|ADAR_uc001ffi.2_Silent_p.Q131Q|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	131					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			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)		TACTCAGTTCCTGGAAATGTG	0.512													T	154574725	C	T	154574725	2	4	247	1	0	0	0	0	0	0	0	1	281	680	24	4		4	ADAR	1	154574725	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	36933227	154574725	94675896	7	121906											
NES	10763	broad.mit.edu	37	chr1	156640925	156640925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctctctgctctttggGctcagggctctctgggtgcc	13	14	4	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:156640925G>A	uc001fpq.2	-	4	3188	c.3055C>T	c.(3055-3057)CCC>TCC	p.P1019S		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1019	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			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTCTTTGGGCTCAGGGCTC	0.642													A	156640925	G	A	156640925	3	1	247	1	0	0	0	0	1	0	0	0	10337	1203	42	2	1814	2	NES	1	156640925	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	2066200	156640925	92609696	8	121907											
FCRLA	84824	broad.mit.edu	37	chr1	161681106	161681106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcaggtgaccttctaccGagatggctcagctctgggtc	12	12	4	2	rs145034072		TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:161681106G>A	uc001gbe.2	+	4	652	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	FCRLA_uc001gbd.2_Missense_Mutation_p.R131Q|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	114	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCTTCTACCGAGATGGCTCA	0.592													A	161681106	G	A	161681106	3	1	247	1	0	0	0	0	1	0	0	0	5800	1058	37	1	424	1	FCRLA	1	161681106	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	5040181	161681106	87569515	9	121908											
CACNA1E	777	broad.mit.edu	37	chr1	181724521	181724521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagttccaaggacacagAgaaggagtgcatgtaagtgc	14	7	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:181724521A>G	uc001gow.2	+	28	4142	c.3977A>G	c.(3976-3978)GAG>GGG	p.E1326G	CACNA1E_uc009wxs.2_Missense_Mutation_p.E1214G|CACNA1E_uc001gox.1_Missense_Mutation_p.E552G|CACNA1E_uc009wxt.2_Missense_Mutation_p.E552G	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1326	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AAGGACACAGAGAAGGAGTGC	0.488													G	181724521	A	G	181724521	3	3	247	1	0	0	0	0	1	0	0	0	2542	304	11	3	4087	3	CACNA1E	1	181724521	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	20043415	181724521	67526100	10	121909											
HMCN1	83872	broad.mit.edu	37	chr1	186057323	186057323	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaagtgattgtggagacGatcagcaatcctgtgacatt	12	6	1	4			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:186057323G>A	uc001grq.1	+	62	9721	c.9492G>A	c.(9490-9492)ACG>ACA	p.T3164T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3164	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTGTGGAGACGATCAGCAATC	0.398													A	186057323	G	A	186057323	2	1	247	1	0	0	0	0	0	0	0	1	7220	1045	37	1		1	HMCN1	1	186057323	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	4332802	186057323	63193298	11	121910											
EPRS	2058	broad.mit.edu	37	chr1	220206907	220206907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttccaactaagtatgttcTcagagacaggcaatgattga	9	7	1	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:220206907T>C	uc001hly.1	-	4	595	c.325A>G	c.(325-327)AGA>GGA	p.R109G	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.R109G|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	109					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			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AAGTATGTTCTCAGAGACAGG	0.348													C	220206907	T	C	220206907	3	2	247	1	0	0	0	0	1	0	0	0	5191	1559	54	3	4329	3	EPRS	1	220206907	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08	34149584	220206907	29043714	12	121911											
TARBP1	6894	broad.mit.edu	37	chr1	234564922	234564922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcccttgattttggcaGcaatggtaagaactttgtta	10	8	0	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:234564922G>A	uc001hwd.2	-	17	3020	c.3020C>T	c.(3019-3021)GCT>GTT	p.A1007V		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1007					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	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)			GATTTTGGCAGCAATGGTAAG	0.333													A	234564922	G	A	234564922	3	1	247	1	0	0	0	0	1	0	0	0	15552	971	34	2	1901	2	TARBP1	1	234564922	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	14358015	234564922	14685699	13	121912											
OR2AK2	391191	broad.mit.edu	37	chr1	248128933	248128933	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaagatggcagtcagcttCctctcacagagtaagaccat	8	13	2	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:248128933C>T	uc010pzd.1	+	1	300	c.300C>T	c.(298-300)TTC>TTT	p.F100F	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)			CAGTCAGCTTCCTCTCACAGA	0.478													T	248128933	C	T	248128933	2	4	247	1	0	0	0	0	0	0	0	1	10986	854	30	4		4	OR2AK2	1	248128933	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	13564011	248128933	1121688	14	121913											
EIF2AK3	9451	broad.mit.edu	37	chr2	88883033	88883033	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcatatttattttcagtttGacactgagtttcagactcct	5	8	3	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:88883033G>A	uc002stc.3	-	10	1880	c.1678C>T	c.(1678-1680)CAA>TAA	p.Q560*		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	560	Cytoplasmic (Potential).				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						TTTTCAGTTTGACACTGAGTT	0.338													A	88883033	G	A	88883033	4	1	247	1	0	0	0	0	0	1	0	0	4998	1299	45	4	1704	4	EIF2AK3	2	88883033	Nonsense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08		88883033	154316340	15	121914											
RANBP2	5903	broad.mit.edu	37	chr2	109382496	109382496	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagttgcatgactcttctgGaagtcaggtgggaacaggat	14	6	3	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:109382496G>C	uc002tem.3	+	20	5627	c.5501G>C	c.(5500-5502)GGA>GCA	p.G1834A		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1834					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GACTCTTCTGGAAGTCAGGTG	0.413													C	109382496	G	C	109382496	3	2	247	1	0	0	0	0	1	0	0	0	13028	1174	41	5	5579	5	RANBP2	2	109382496	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	20499463	109382496	133816877	16	121915											
SLC4A10	57282	broad.mit.edu	37	chr2	162719476	162719476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatgaaacagcatcatcatCagaatcagaaaaaactcacc	5	10	5	4			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:162719476C>A	uc002ubx.3	+	6	854	c.670C>A	c.(670-672)CAG>AAG	p.Q224K	SLC4A10_uc010fpa.1_Missense_Mutation_p.Q236K|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.Q224K|SLC4A10_uc010zcs.1_Missense_Mutation_p.Q235K	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	224	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						GCATCATCATCAGAATCAGAA	0.418													A	162719476	C	A	162719476	3	1	247	1	0	0	0	0	1	0	0	0	14651	827	29	5	777	5	SLC4A10	2	162719476	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	53336980	162719476	80479897	17	121916											
TTN	7273	broad.mit.edu	37	chr2	179424095	179424095	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accaacaccaaactcattttCtccagagactctgaagtaat	4	12	3	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:179424095C>A	uc010zfg.1	-	275	79284	c.79060G>T	c.(79060-79062)GAA>TAA	p.E26354*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E20049*|TTN_uc010zfi.1_Nonsense_Mutation_p.E19982*|TTN_uc010zfj.1_Nonsense_Mutation_p.E19857*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27281							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCATTTTCTCCAGAGACT	0.373													A	179424095	C	A	179424095	4	1	247	1	0	0	0	0	0	1	0	0	16732	922	32	5	21363	5	TTN	2	179424095	Nonsense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	16704619	179424095	63775278	18	121917											
COL4A4	1286	broad.mit.edu	37	chr2	227917059	227917059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatctccaggaggtccaGgttccccaggtgttcccttt	9	14	2	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:227917059G>A	uc010zlt.1	-	32	3584	c.2930C>T	c.(2929-2931)CCT>CTT	p.P977L		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	977	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		AGGAGGTCCAGGTTCCCCAGG	0.398													A	227917059	G	A	227917059	3	1	247	1	0	0	0	0	1	0	0	0	3693	1000	35	4	2210	4	COL4A4	2	227917059	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	48492964	227917059	15282314	19	121918											
SCN10A	6336	broad.mit.edu	37	chr3	38781019	38781019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattaccaagcggaagctcCgcagcacagacaggcttccc	9	15	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:38781019C>T	uc003ciq.2	-	14	2267	c.2267G>A	c.(2266-2268)CGG>CAG	p.R756Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	756	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	GCGGAAGCTCCGCAGCACAGA	0.522													T	38781019	C	T	38781019	3	4	247	1	0	0	0	0	1	0	0	0	13912	652	23	1	3659	1	SCN10A	3	38781019	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08		38781019	159241411	20	121919											
SCN11A	11280	broad.mit.edu	37	chr3	38913761	38913761	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacttcaattccattaAgttaatgagggtggtcacag	11	6	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:38913761A>C	uc011ays.1	-	20	3617	c.3418T>G	c.(3418-3420)TTA>GTA	p.L1140V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1140	Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATTCCATTAAGTTAATGAGG	0.478													C	38913761	A	C	38913761	3	2	247	1	0	0	0	0	1	0	0	0	13913	69	3	5	1985	5	SCN11A	3	38913761	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	132742	38913761	159108669	21	121920											
COL7A1	1294	broad.mit.edu	37	chr3	48623397	48623397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaatacactgggcagggCtctggccggggctgcggaca	17	11	1	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:48623397C>T	uc003ctz.2	-	28	3736	c.3735G>A	c.(3733-3735)GAG>GAA	p.E1245E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1245	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGGCAGGGCTCTGGCCGGG	0.557													T	48623397	C	T	48623397	2	4	247	1	0	0	0	0	0	0	0	1	3704	796	28	2		2	COL7A1	3	48623397	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	9709636	48623397	149399033	22	121921											
SI	6476	broad.mit.edu	37	chr3	164750331	164750331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggttagaagcatcataagtGaaattggaatgagcgttcat	11	4	2	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:164750331G>T	uc003fei.2	-	24	2777	c.2715C>A	c.(2713-2715)TTC>TTA	p.F905L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	905	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATCATAAGTGAAATTGGAAT	0.323										HNSCC(35;0.089)			T	164750331	G	T	164750331	3	4	247	1	0	0	0	0	1	0	0	0	14297	1281	45	5	2868	5	SI	3	164750331	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	116126934	164750331	33272099	23	121922											
SLC7A14	57709	broad.mit.edu	37	chr3	170198405	170198405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtcgctgctgtgggccGgtccattttgcctggaaggc	14	14	0	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:170198405G>A	uc003fgz.2	-	7	1982	c.1666C>T	c.(1666-1668)CGG>TGG	p.R556W	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	556						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			GCTGTGGGCCGGTCCATTTTG	0.488													A	170198405	G	A	170198405	3	1	247	1	0	0	0	0	1	0	0	0	14696	1115	39	1	657	1	SLC7A14	3	170198405	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	5448074	170198405	27824025	24	121923											
MRPL47	57129	broad.mit.edu	37	chr3	179311619	179311619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcttgaccagtctgaAgaagccttagggcatcttct	8	11	5	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:179311619A>C	uc003fjz.2	-	5	489	c.467T>G	c.(466-468)CTT>CGT	p.L156R	MRPL47_uc003fka.2_Missense_Mutation_p.L46R|MRPL47_uc003fkb.2_Missense_Mutation_p.L136R	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	156					translation	mitochondrial ribosome	structural constituent of ribosome				0	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)			ACCAGTCTGAAGAAGCCTTAG	0.398													C	179311619	A	C	179311619	3	2	247	1	0	0	0	0	1	0	0	0	9811	72	3	5	297	5	MRPL47	3	179311619	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	9113214	179311619	18710811	25	121924											
TP63	8626	broad.mit.edu	37	chr3	189607201	189607201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacccaggcactccctcCcccactctccatgccatcca	3	25	1	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:189607201C>T	uc003fry.2	+	12	1669	c.1580C>T	c.(1579-1581)CCC>CTC	p.P527L	TP63_uc003frz.2_Missense_Mutation_p.P527L|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.P433L|TP63_uc003fsd.2_Missense_Mutation_p.P433L|TP63_uc010hzd.1_Missense_Mutation_p.P348L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	527					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			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCACTCCCTCCCCCACTCTCC	0.592									Hay-Wells_syndrome	HNSCC(45;0.13)			T	189607201	C	T	189607201	3	4	247	1	0	0	0	0	1	0	0	0	16389	623	22	4	1791	4	TP63	3	189607201	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	10295582	189607201	8415229	26	121925											
FYTTD1	84248	broad.mit.edu	37	chr3	197501044	197501044	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggcccagttgaatacagaaCaactgctagacgatgtagta	10	8	0	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:197501044C>G	uc003fyi.2	+	6	838	c.619C>G	c.(619-621)CAA>GAA	p.Q207E	FYTTD1_uc011bui.1_Missense_Mutation_p.Q181E|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.Q140E	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1 isoform 1	207					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	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)		GAATACAGAACAACTGCTAGA	0.403													G	197501044	C	G	197501044	3	3	247	1	0	0	0	0	1	0	0	0	6127	479	17	5	670	5	FYTTD1	3	197501044	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	7893843	197501044	521386	27	121926											
NIPAL1	152519	broad.mit.edu	37	chr4	48037691	48037691	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatatttcaatctgttccttGattggagcgttttcagtttc	7	7	3	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:48037691G>A	uc003gxw.2	+	6	801	c.735G>A	c.(733-735)TTG>TTA	p.L245L		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	245	Helical; (Potential).					integral to membrane					0						TCTGTTCCTTGATTGGAGCGT	0.408													A	48037691	G	A	48037691	2	1	247	1	0	0	0	0	0	0	0	1	10424	1281	45	4		4	NIPAL1	4	48037691	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08		48037691	143116585	28	121927											
CENPE	1062	broad.mit.edu	37	chr4	104067005	104067005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctacaatttcttttAtgttttctttgagctggtca	6	7	3	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:104067005A>G	uc003hxb.1	-	30	4484	c.4394T>C	c.(4393-4395)ATA>ACA	p.I1465T	CENPE_uc003hxc.1_Missense_Mutation_p.I1440T	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1465	Potential.				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			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATTTCTTTTATGTTTTCTTT	0.318													G	104067005	A	G	104067005	3	3	247	1	0	0	0	0	1	0	0	0	3230	449	16	3	3791	3	CENPE	4	104067005	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	56029314	104067005	87087271	29	121928											
MYOZ2	51778	broad.mit.edu	37	chr4	120072095	120072095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttggaagaattatccCatctcagtaaccgtggtgcc	9	10	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:120072095C>T	uc003icp.3	+	3	358	c.145C>T	c.(145-147)CAT>TAT	p.H49Y		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	49							protein phosphatase 2B binding				0						AGAATTATCCCATCTCAGTAA	0.383													T	120072095	C	T	120072095	3	4	247	1	0	0	0	0	1	0	0	0	10096	594	21	4	151	4	MYOZ2	4	120072095	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	16005090	120072095	71082181	30	121929											
MARCH1	55016	broad.mit.edu	37	chr4	164466760	164466760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttaccattgtcattgcCttgcttgatttcctccgctg	7	13	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:164466760C>T	uc003iqs.1	-	7	1536	c.559G>A	c.(559-561)GGC>AGC	p.G187S	MARCH1_uc003iqr.1_Missense_Mutation_p.G170S	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	187					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			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGTCATTGCCTTGCTTGATT	0.443													T	164466760	C	T	164466760	3	4	247	1	0	0	0	0	1	0	0	0	9298	681	24	4	318	4	MARCH1	4	164466760	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	44394665	164466760	26687516	31	121930											
RICTOR	253260	broad.mit.edu	37	chr5	39002671	39002671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccactttcaattttagcaCcttctggagaatactggagt	8	9	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:39002671C>A	uc003jlp.2	-	5	382	c.358G>T	c.(358-360)GTG>TTG	p.V120L	RICTOR_uc003jlo.2_Missense_Mutation_p.V120L|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.V104L|RICTOR_uc011cpk.1_Missense_Mutation_p.V120L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	120					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			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AATTTTAGCACCTTCTGGAGA	0.378													A	39002671	C	A	39002671	3	1	247	1	0	0	0	0	1	0	0	0	13358	507	18	5	4904	5	RICTOR	5	39002671	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08		39002671	141912589	32	121931											
PITX1	5307	broad.mit.edu	37	chr5	134364978	134364979	+	Frame_Shift_Ins	INS	-	-	A													tgctggttacgctcgcgcttINSacgccacttggctcgccggt							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:134364978_134364979insA	uc010jea.2	-	3	828_829	c.435_436insT	c.(433-438)CGTAAGfs	p.R145fs	PITX1_uc011cxy.1_Frame_Shift_Ins_p.R145fs	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	145_146	Homeobox.					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGCTCGCGCTTACGCCACTTGG	0.688													A	134364979	-	A	134364978	7	5	247	1	0	1	1	0	0	0	0	0	11954	1763	61	0	512	0	PITX1	5	134364978	Frame_Shift_Ins	INS	-	TCGA-FP-8631-01A-11D-2394-08	95362307	134364978	46550282	33	121932	625	2									
PITX1	5307	broad.mit.edu	37	chr5	134364979	134364980	+	Frame_Shift_Ins	INS	-	-	A													gctggttacgctcgcgcttaINScgccacttggctcgccggtt							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:134364978_134364979T>TA	uc010jea.3	-	2	828_829	c.435_436A>TA	c.(433-438)cgtaagfs	p.R145fs		NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	145						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)		CGCTCGCGCTTACGCCACTTGG	0.688													A	134364980	-	A	134364979	7	5	247	1	0	1	1	0	0	0	0	0	11954	378	14	0	513	0	PITX1	5	134364979	Frame_Shift_Ins	INS	-	TCGA-FP-8631-01A-11D-2394-08	1	134364979	46550281	34	121933	625	2									
PCDHA13	56136	broad.mit.edu	37	chr5	140263750	140263750	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtacactggcgagatcagcAcgacgcgccctctggacgag	13	13	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:140263750A>T	uc003lif.2	+	1	1897	c.1897A>T	c.(1897-1899)ACG>TCG	p.T633S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T633S|PCDHA13_uc003lid.2_Missense_Mutation_p.T633S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGATCAGCACGACGCGCCC	0.677													T	140263750	A	T	140263750	3	4	247	1	0	0	0	0	1	0	0	0	11523	159	6	5	1899	5	PCDHA13	5	140263750	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	5898771	140263750	40651510	35	121934											
FAT2	2196	broad.mit.edu	37	chr5	150947107	150947107	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatccaaggtaccatcataGgaagacctgttgaagagggg	12	8	2	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:150947107G>T	uc003lue.3	-	1	1399	c.1386C>A	c.(1384-1386)TCC>TCA	p.S462S	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S462S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	462	Cadherin 4.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCATCATAGGAAGACCTGT	0.527													T	150947107	G	T	150947107	2	4	247	1	0	0	0	0	0	0	0	1	5690	987	35	5		5	FAT2	5	150947107	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	10683357	150947107	29968153	36	121935											
HLA-G	3135	broad.mit.edu	37	chr6	29795915	29795915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggctacgtggacgacacGcagttcgtgcggttcgacag	15	10	0	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:29795915G>A	uc003nnw.2	+	3	343	c.165G>A	c.(163-165)ACG>ACA	p.T55T	HLA-G_uc011dmb.1_Silent_p.T27T|HLA-G_uc003raj.3_Silent_p.T60T|HLA-G_uc003nnz.3_Silent_p.T55T|HLA-G_uc010jrn.2_Silent_p.T55T|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	55	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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			ovary(3)|central_nervous_system(1)	4						TGGACGACACGCAGTTCGTGC	0.701													A	29795915	G	A	29795915	2	1	247	1	0	0	0	0	0	0	0	1	7212	1074	38	1		1	HLA-G	6	29795915	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08		29795915	141319152	37	121936											
FGD2	221472	broad.mit.edu	37	chr6	36978786	36978786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggagctgctggagaCagagcaggcctatgtggcgc	16	11	0	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:36978786C>T	uc010jwp.1	+	3	509	c.338C>T	c.(337-339)ACA>ATA	p.T113I	FGD2_uc011dtu.1_Missense_Mutation_p.T113I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	113	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			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						CTGCTGGAGACAGAGCAGGCC	0.612													T	36978786	C	T	36978786	3	4	247	1	0	0	0	0	1	0	0	0	5833	478	17	4	348	4	FGD2	6	36978786	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	7182871	36978786	134136281	38	121937											
BYSL	705	broad.mit.edu	37	chr6	41889330	41889331	+	Frame_Shift_Ins	INS	-	-	G													tcaaggcggcccgtggggtgINSgggggtcaggaaaaacatgc							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:41889329_41889330T>TG	uc003orl.3	+	0	365_366	c.29_30T>TG	c.(28-30)gtgfs	p.V10fs	MED20_uc003orj.3_5'Flank|MED20_uc003ork.3_5'Flank|MED20_uc011duh.2_5'Flank|MED20_uc011dui.2_5'Flank|MED20_uc011duj.2_5'Flank	NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	10					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				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)			GCCCGTGGGGTGGGGGGTCAGG	0.649											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	41889331	-	G	41889330	7	5	247	1	0	1	1	0	0	0	0	0	1576	1335	47	0	32	0	BYSL	6	41889330	Frame_Shift_Ins	INS	-	TCGA-FP-8631-01A-11D-2394-08	4910544	41889330	129225737	39	121938											
SOBP	55084	broad.mit.edu	37	chr6	107955296	107955296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatccgcgggcctccGcaccatgcctccaaccccaa	6	22	1	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:107955296G>A	uc003prx.2	+	6	1752	c.1248G>A	c.(1246-1248)CCG>CCA	p.P416P		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	416	Pro-rich.						metal ion binding			ovary(1)	1		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)		GCGGGCCTCCGCACCATGCCT	0.692													A	107955296	G	A	107955296	2	1	247	1	0	0	0	0	0	0	0	1	14912	1074	38	1		1	SOBP	6	107955296	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	66065966	107955296	63159771	40	121939											
SOBP	55084	broad.mit.edu	37	chr6	107956313	107956313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgccgcccgcgccccccaaGaagctgctgtcgcctgagga	12	19	0	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:107956313G>A	uc003prx.2	+	6	2769	c.2265G>A	c.(2263-2265)AAG>AAA	p.K755K		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	755	Pro-rich.						metal ion binding			ovary(1)	1		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)		CGCCCCCCAAGAAGCTGCTGT	0.607													A	107956313	G	A	107956313	2	1	247	1	0	0	0	0	0	0	0	1	14912	933	33	4		4	SOBP	6	107956313	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	1017	107956313	63158754	41	121940											
HEY2	23493	broad.mit.edu	37	chr6	126080831	126080831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcagcagtggccgcGgccacagccatcagcccgcc	13	18	1	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:126080831G>A	uc003qad.2	+	5	1088	c.897G>A	c.(895-897)GCG>GCA	p.A299A	HEY2_uc011ebr.1_Silent_p.A253A	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	299	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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGTGGCCGCGGCCACAGCCA	0.642													A	126080831	G	A	126080831	2	1	247	1	0	0	0	0	0	0	0	1	7079	1103	39	1		1	HEY2	6	126080831	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	18124518	126080831	45034236	42	121941											
MOXD1	26002	broad.mit.edu	37	chr6	132636888	132636888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataaagaaggtatgagagaCacatttcactcctggtgctt	9	7	1	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:132636888C>T	uc003qdf.2	-	10	1493	c.1394G>A	c.(1393-1395)TGT>TAT	p.C465Y	MOXD1_uc003qde.2_Missense_Mutation_p.C397Y	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	465	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTATGAGAGACACATTTCACT	0.368													T	132636888	C	T	132636888	3	4	247	1	0	0	0	0	1	0	0	0	9720	478	17	4	459	4	MOXD1	6	132636888	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	6556057	132636888	38478179	43	121942											
THSD7A	221981	broad.mit.edu	37	chr7	11630118	11630118	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtgggtacttaattgtgaGaggaggttttcgttggcctg	15	4	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:11630118G>A	uc003ssf.3	-	4	1674	c.1422C>T	c.(1420-1422)CTC>CTT	p.L474L		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	474	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTAATTGTGAGAGGAGGTTTT	0.517										HNSCC(18;0.044)			A	11630118	G	A	11630118	2	1	247	1	0	0	0	0	0	0	0	1	15876	929	33	4		4	THSD7A	7	11630118	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08		11630118	147508545	44	121943											
DNAH11	8701	broad.mit.edu	37	chr7	21598510	21598510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatcacatagaagtcatgAaaaagaagatgtatattttt	6	3	2	4			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:21598510A>G	uc003svc.2	+	3	617	c.586A>G	c.(586-588)AAA>GAA	p.K196E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	196	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGAAGTCATGAAAAAGAAGAT	0.358									Kartagener_syndrome				G	21598510	A	G	21598510	3	3	247	1	0	0	0	0	1	0	0	0	4599	247	9	3	596	3	DNAH11	7	21598510	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	9968392	21598510	137540153	45	121944											
GLI3	2737	broad.mit.edu	37	chr7	42116407	42116408	+	Missense_Mutation	DNP	GG	GG	CT													taacggccctcatgatgtctGgcatcaattggtacaggagg							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:42116407_42116408GG>CT	uc011kbh.1	-	4	507_508	c.416_417CC>AG	c.(415-417)GCC>GAG	p.A139E	GLI3_uc011kbg.1_Missense_Mutation_p.A80E	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	139					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CATGATGTCTGGCATCAATTGG	0.421									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				CT	42116408	GG	CT	42116407	3	2	247	1	0	0	0	0	1	0	0	0	6439	1335	47	5	4373	5	GLI3	7	42116407	Missense_Mutation	DNP	GG	TCGA-FP-8631-01A-11D-2394-08	20517897	42116407	117022256	46	121945											
ZNF498	221785	broad.mit.edu	37	chr7	99227574	99227574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgcctgcgggcgaagCttcaaccagaggtccatcct	11	14	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:99227574C>T	uc003url.1	+	8	1893	c.1566C>T	c.(1564-1566)AGC>AGT	p.S522S	ZNF498_uc003urm.1_Silent_p.S358S|ZNF498_uc010lge.1_Silent_p.S358S|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Silent_p.S450S|ZNF498_uc003uro.1_Silent_p.S306S	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	522	C2H2-type 7; degenerate.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GCGGGCGAAGCTTCAACCAGA	0.622													T	99227574	C	T	99227574	2	4	247	1	0	0	0	0	0	0	0	1	17944	796	28	2		2	ZNF498	7	99227574	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	57111167	99227574	59911089	47	121946											
CUX1	1523	broad.mit.edu	37	chr7	101839960	101839960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgaaagtcggcgcccGggatctttgccggccccccc	12	18	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:101839960G>A	uc003uyx.3	+	15	1307	c.1269G>A	c.(1267-1269)CCG>CCA	p.P423P	CUX1_uc003uys.3_Silent_p.P434P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	423					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GTCGGCGCCCGGGATCTTTGC	0.567													A	101839960	G	A	101839960	2	1	247	1	0	0	0	0	0	0	0	1	4064	1103	39	1		1	CUX1	7	101839960	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	2612386	101839960	57298703	48	121947											
TUSC3	7991	broad.mit.edu	37	chr8	15519792	15519792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctataacaagactggttgggCcatggtgtctctggtatgtt	12	7	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:15519792C>A	uc003wwt.2	+	5	905	c.695C>A	c.(694-696)GCC>GAC	p.A232D	TUSC3_uc003wwr.2_Missense_Mutation_p.A232D|TUSC3_uc003wws.2_Missense_Mutation_p.A232D|TUSC3_uc003wwu.2_Missense_Mutation_p.A232D|TUSC3_uc003wwv.2_Missense_Mutation_p.A232D|TUSC3_uc003www.2_Missense_Mutation_p.A232D|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.A232D	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	232	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		ACTGGTTGGGCCATGGTGTCT	0.358													A	15519792	C	A	15519792	3	1	247	1	0	0	0	0	1	0	0	0	16775	739	26	5	713	5	TUSC3	8	15519792	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08		15519792	130844230	49	121948											
SCARA5	286133	broad.mit.edu	37	chr8	27729526	27729526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatttggagaagctgcaGcggaagatggtttcctctgt	12	10	1	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:27729526G>A	uc003xgj.2	-	9	1853	c.1413C>T	c.(1411-1413)CGC>CGT	p.R471R	SCARA5_uc010luz.2_Silent_p.R246R	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	471	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGAAGCTGCAGCGGAAGATGG	0.552													A	27729526	G	A	27729526	2	1	247	1	0	0	0	0	0	0	0	1	13880	958	34	2		2	SCARA5	8	27729526	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	12209734	27729526	118634496	50	121949											
FABP12	646486	broad.mit.edu	37	chr8	82441753	82441753	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcattatttttaaagatgcTtttggtttttattgtgatga	7	3	1	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:82441753T>A	uc011lfp.1	-	2	166	c.166A>T	c.(166-168)AGC>TGC	p.S56C	FABP12_uc003ycg.3_RNA	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	56							lipid binding|transporter activity				0						TTAAAGATGCTTTTGGTTTTT	0.448													A	82441753	T	A	82441753	3	1	247	1	0	0	0	0	1	0	0	0	5356	1609	56	5	266	5	FABP12	8	82441753	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08	54712227	82441753	63922269	51	121950											
WDR67	93594	broad.mit.edu	37	chr8	124138363	124138363	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattcttagcatgatagaAaatgttttggcatttcatga	7	4	2	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:124138363A>C	uc003ypp.1	+	12	1728	c.1638A>C	c.(1636-1638)GAA>GAC	p.E546D	WDR67_uc011lig.1_Missense_Mutation_p.E546D|WDR67_uc011lih.1_Missense_Mutation_p.E436D|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.E259D|WDR67_uc003ypt.1_Missense_Mutation_p.E3D|WDR67_uc003ypu.1_Missense_Mutation_p.E3D	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	546	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCATGATAGAAAATGTTTTGG	0.328													C	124138363	A	C	124138363	3	2	247	1	0	0	0	0	1	0	0	0	17315	11	1	5	1684	5	WDR67	8	124138363	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	41696610	124138363	22225659	52	121951											
WISP1	8840	broad.mit.edu	37	chr8	134239806	134239806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtctaagactatcgaCgtgtccttccagtgtcctga	8	11	1	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:134239806C>T	uc003yub.2	+	5	1033	c.957C>T	c.(955-957)GAC>GAT	p.D319D	WISP1_uc003yuc.2_Silent_p.D232D|WISP1_uc010meb.2_Silent_p.D147D|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Silent_p.D74D|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	319	CTCK.				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)|kidney(1)	2	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)			AGACTATCGACGTGTCCTTCC	0.517													T	134239806	C	T	134239806	2	4	247	1	0	0	0	0	0	0	0	1	17369	535	19	1		1	WISP1	8	134239806	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	10101443	134239806	12124216	53	121952											
PLEC	5339	broad.mit.edu	37	chr8	144998480	144998480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccgccgctggaaggcctCgtcctccgccagccgccgca	12	21	0	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:144998480C>T	uc003zaf.1	-	31	6198	c.6028G>A	c.(6028-6030)GAG>AAG	p.E2010K	PLEC_uc003zab.1_Missense_Mutation_p.E1873K|PLEC_uc003zac.1_Missense_Mutation_p.E1877K|PLEC_uc003zad.2_Missense_Mutation_p.E1873K|PLEC_uc003zae.1_Missense_Mutation_p.E1841K|PLEC_uc003zag.1_Missense_Mutation_p.E1851K|PLEC_uc003zah.2_Missense_Mutation_p.E1859K|PLEC_uc003zaj.2_Missense_Mutation_p.E1900K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2010	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGGAAGGCCTCGTCCTCCGCC	0.716													T	144998480	C	T	144998480	3	4	247	1	0	0	0	0	1	0	0	0	12052	893	31	1	8034	1	PLEC	8	144998480	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	10758674	144998480	1365542	54	121953											
IKBKAP	8518	broad.mit.edu	37	chr9	111640313	111640313	+	Frame_Shift_Del	DEL	T	T	-													ctggtaagtaagagtccaaaTttctggaagtgacctttcca							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr9:111640312_111640312AT>A	uc004bdm.4	-	34	4338	c.3818_3818AT>T	c.(3817-3819)attfs	p.I1273fs	IKBKAP_uc004bdl.3_Frame_Shift_Del_p.I924fs|IKBKAP_uc011lwc.2_Frame_Shift_Del_p.I1159fs|IKBKAP_uc010mtq.3_Frame_Shift_Del_p.I924fs|IKBKAP_uc004bdk.3_Frame_Shift_Del_p.I277fs|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1273					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|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						AAGAGTCCAAATTTCTGGAAG	0.398													-	111640313	T	-	111640313	7	5	247	1	0	1	0	1	0	0	0	0	7610	1493	52	0	193	0	IKBKAP	9	111640313	Frame_Shift_Del	DEL	T	TCGA-FP-8631-01A-11D-2394-08		111640313	29573118	55	121954											
SUSD1	64420	broad.mit.edu	37	chr9	114875119	114875119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggtatcattaaacaGtgatacatcattaatctttg	5	8	3	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr9:114875119G>A	uc004bfu.2	-	7	957	c.916C>T	c.(916-918)CTG>TTG	p.L306L	SUSD1_uc010mui.2_Silent_p.L306L|SUSD1_uc010muj.2_Silent_p.L306L	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	306	Extracellular (Potential).					integral to membrane	calcium ion binding				0						TCATTAAACAGTGATACATCA	0.348													A	114875119	G	A	114875119	2	1	247	1	0	0	0	0	0	0	0	1	15404	1020	36	4		4	SUSD1	9	114875119	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	3234806	114875119	26338312	56	121955											
OBP2A	29991	broad.mit.edu	37	chr9	138440642	138440642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggaggacattttcatGcccctgcagacgggtgagga	15	9	1	2	rs141373494	byFrequency	TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr9:138440642G>A	uc004cgb.2	+	5	519	c.477G>A	c.(475-477)ATG>ATA	p.M159I	OBP2A_uc004cgc.2_Missense_Mutation_p.C181Y|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.M136I	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	159					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		ACATTTTCATGCCCCTGCAGA	0.562													A	138440642	G	A	138440642	3	1	247	1	0	0	0	0	1	0	0	0	10810	1319	46	2	495	2	OBP2A	9	138440642	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	23565523	138440642	2772789	57	121956											
RET	5979	broad.mit.edu	37	chr10	43622117	43622117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgctggtggactgtaataAtgcccccctccctcgagccc	9	17	0	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr10:43622117A>G	uc001jal.2	+	19	3324	c.3134A>G	c.(3133-3135)AAT>AGT	p.N1045S	RET_uc001jak.1_Missense_Mutation_p.N1045S|RET_uc010qez.1_Missense_Mutation_p.N791S	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1045	Cytoplasmic (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GACTGTAATAATGCCCCCCTC	0.522		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				G	43622117	A	G	43622117	3	3	247	1	0	0	0	0	1	0	0	0	13235	101	4	3	3208	3	RET	10	43622117	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08		43622117	91912630	58	121957											
UNC5B	219699	broad.mit.edu	37	chr10	73053609	73053609	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagcggctccagctggcCgtcttcgcccccgccctctg	11	19	3	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr10:73053609C>G	uc001jro.2	+	13	2539	c.2094C>G	c.(2092-2094)GCC>GCG	p.A698A	UNC5B_uc001jrp.2_Silent_p.A687A	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	698	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TCCAGCTGGCCGTCTTCGCCC	0.657													G	73053609	C	G	73053609	2	3	247	1	0	0	0	0	0	0	0	1	16989	639	23	5		5	UNC5B	10	73053609	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	29431492	73053609	62481138	59	121958											
MUC6	4588	broad.mit.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-													cagaaggactgggagaaaatGaggaggacagctgattagtt							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:1016411_1016413TGAG>T	uc001lsw.2	-	30	6439_6441	c.6388_6390CTCA>A	c.(6388-6390)tca>A	p.S2130del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2130	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		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)		TGGGAGAAAATGAGGAGGACAGC	0.522													-	1016414	GAG	-	1016412	7	5	247	1	0	1	0	1	0	0	0	0	9980	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-FP-8631-01A-11D-2394-08		1016412	133990104	60	121959											
ZNF195	7748	broad.mit.edu	37	chr11	3381526	3381526	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtttctctccagtatTacttatattacgtctatgta	6	7	2	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:3381526T>A	uc001lxt.2	-	6	890	c.712A>T	c.(712-714)AAT>TAT	p.N238Y	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.N215Y|ZNF195_uc001lxs.2_Missense_Mutation_p.N166Y|ZNF195_uc010qxr.1_Missense_Mutation_p.N219Y|ZNF195_uc009ydz.2_Missense_Mutation_p.N193Y|ZNF195_uc001lxu.2_Missense_Mutation_p.N170Y	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	238	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TCTCCAGTATTACTTATATTA	0.284													A	3381526	T	A	3381526	3	1	247	1	0	0	0	0	1	0	0	0	17755	1754	61	5	1181	5	ZNF195	11	3381526	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08	2365114	3381526	131624990	61	121960											
CNGA4	1262	broad.mit.edu	37	chr11	6265554	6265554	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccgaggacctggctgaggCtgatgacgagggtgagcctg	18	10	0	4			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:6265554C>G	uc001mco.2	+	6	1750	c.1643C>G	c.(1642-1644)GCT>GGT	p.A548G	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	548	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		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)		CTGGCTGAGGCTGATGACGAG	0.617													G	6265554	C	G	6265554	3	3	247	1	0	0	0	0	1	0	0	0	3599	797	28	5	1665	5	CNGA4	11	6265554	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	2884028	6265554	128740962	62	121961											
PLEKHA7	144100	broad.mit.edu	37	chr11	16812631	16812631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgccgcttgaggcccCgcacagatgtgtgccggatg	14	13	0	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:16812631C>T	uc001mmo.2	-	20	2876	c.2861G>A	c.(2860-2862)CGG>CAG	p.R954Q	PLEKHA7_uc010rcu.1_Missense_Mutation_p.R955Q|PLEKHA7_uc001mmm.2_Missense_Mutation_p.R57Q|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R529Q|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R663Q	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	954					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CTTGAGGCCCCGCACAGATGT	0.682													T	16812631	C	T	16812631	3	4	247	1	0	0	0	0	1	0	0	0	12061	652	23	1	520	1	PLEKHA7	11	16812631	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	10547077	16812631	118193885	63	121962											
ANO3	63982	broad.mit.edu	37	chr11	26677708	26677708	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaacaatagcctatccttCtttgacctgagtgagcttgg	9	10	2	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:26677708C>A	uc001mqt.3	+	25	2758	c.2613C>A	c.(2611-2613)TTC>TTA	p.F871L	ANO3_uc010rdr.1_Missense_Mutation_p.F855L|ANO3_uc010rds.1_Missense_Mutation_p.F710L|ANO3_uc010rdt.1_Missense_Mutation_p.F725L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	871	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCTATCCTTCTTTGACCTGA	0.373													A	26677708	C	A	26677708	3	1	247	1	0	0	0	0	1	0	0	0	698	912	32	5	2711	5	ANO3	11	26677708	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	9865077	26677708	108328808	64	121963											
OR4B1	119765	broad.mit.edu	37	chr11	48238439	48238439	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagagtgtatgcttTgtggtgtttctccccgtgta	13	8	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:48238439T>C	uc010rhs.1	+	1	78	c.78T>C	c.(76-78)TTT>TTC	p.F26F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						GTGTATGCTTTGTGGTGTTTC	0.498													C	48238439	T	C	48238439	2	2	247	1	0	0	0	0	0	0	0	1	11044	1809	63	3		3	OR4B1	11	48238439	Silent	SNP	T	TCGA-FP-8631-01A-11D-2394-08	21560731	48238439	86768077	65	121964											
OR4A16	81327	broad.mit.edu	37	chr11	55110764	55110764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacattatttgtcatgtttTtactcatatacattgtgaca	4	6	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:55110764T>G	uc010rie.1	+	1	88	c.88T>G	c.(88-90)TTA>GTA	p.L30V		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TGTCATGTTTTTACTCATATA	0.423													G	55110764	T	G	55110764	3	3	247	1	0	0	0	0	1	0	0	0	11041	1838	64	5	90	5	OR4A16	11	55110764	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08	6872325	55110764	79895752	66	121965											
OR10AG1	282770	broad.mit.edu	37	chr11	55735801	55735801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatacatgggagtctGgagagcggggtgaattttta	13	3	1	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:55735801G>T	uc010rit.1	-	1	139	c.139C>A	c.(139-141)CAG>AAG	p.Q47K		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	47	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					ATGGGAGTCTGGAGAGCGGGG	0.343													T	55735801	G	T	55735801	3	4	247	1	0	0	0	0	1	0	0	0	10897	1357	47	5	769	5	OR10AG1	11	55735801	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	625037	55735801	79270715	67	121966											
MED19	219541	broad.mit.edu	37	chr11	57472643	57472643	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacagaatttattataGgcttgttccaagttgtagtg	8	7	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:57472643G>C	uc001nla.1	-	2	298	c.276C>G	c.(274-276)GCC>GCG	p.A92A	MED19_uc001nlb.2_Silent_p.A92A	NM_153450	NP_703151	A0JLT2	MED19_HUMAN	mediator complex subunit 19	92					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(2)	2						ATTTATTATAGGCTTGTTCCA	0.433													C	57472643	G	C	57472643	2	2	247	1	0	0	0	0	0	0	0	1	9437	987	35	5		5	MED19	11	57472643	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	1736842	57472643	77533873	68	121967											
SIK2	23235	broad.mit.edu	37	chr11	111572256	111572256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaattttgaggcagagGgttctggaaggaagattccg	13	7	1	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:111572256G>A	uc001plt.2	+	6	802	c.684G>A	c.(682-684)AGG>AGA	p.R228R		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	228	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TGAGGCAGAGGGTTCTGGAAG	0.418													A	111572256	G	A	111572256	2	1	247	1	0	0	0	0	0	0	0	1	14318	1223	43	4		4	SIK2	11	111572256	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	54099613	111572256	23434260	69	121968											
CMAS	55907	broad.mit.edu	37	chr12	22208520	22208520	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtgagacgccatcagtttCgatggagtgaaattcagaaa	11	6	2	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:22208520C>T	uc001rfm.2	+	3	614	c.535C>T	c.(535-537)CGA>TGA	p.R179*	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	179					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						CCATCAGTTTCGATGGAGTGA	0.328													T	22208520	C	T	22208520	4	4	247	1	0	0	0	0	0	1	0	0	3575	876	31	1	545	1	CMAS	12	22208520	Nonsense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08		22208520	111643375	70	121969											
ITPR2	3709	broad.mit.edu	37	chr12	26868707	26868707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttaatacatcctctcgaTaggaactatatttcatgaat	4	8	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:26868707T>C	uc001rhg.2	-	7	1103	c.686A>G	c.(685-687)TAT>TGT	p.Y229C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	229	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ATCCTCTCGATAGGAACTATA	0.353													C	26868707	T	C	26868707	3	2	247	1	0	0	0	0	1	0	0	0	7921	1406	49	3	7623	3	ITPR2	12	26868707	Missense_Mutation	SNP	T	TCGA-FP-8631-01A-11D-2394-08	4660187	26868707	106983188	71	121970											
KRT76	51350	broad.mit.edu	37	chr12	53170704	53170704	+	Silent	SNP	T	T	C													ggaccaccaaagccaccagcTccaccaaagccaccagcccc							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:53170704T>C	uc001sax.2	-	1	426	c.372A>G	c.(370-372)GGA>GGG	p.G124G		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	124	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						agccaccagctccaccaaagc	0.114													C	53170704	T	C	53170704	2	2	247	1	0	0	0	0	0	0	0	1	8489	1538	54	3		3	KRT76	12	53170704	Silent	SNP	T	TCGA-FP-8631-01A-11D-2394-08	26301997	53170704	80681191	72	121971	626	2									
KRT76	51350	broad.mit.edu	37	chr12	53170707	53170707	+	Silent	SNP	A	A	T													ccaccaaagccaccagctccAccaaagccaccagcccctcc							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:53170707A>T	uc001sax.2	-	1	423	c.369T>A	c.(367-369)GGT>GGA	p.G123G		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	123	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						caccagctccaccaaagccac	0.109													T	53170707	A	T	53170707	2	4	247	1	0	0	0	0	0	0	0	1	8489	146	6	5		5	KRT76	12	53170707	Silent	SNP	A	TCGA-FP-8631-01A-11D-2394-08	3	53170707	80681188	73	121972	626	2									
ORMDL2	29095	broad.mit.edu	37	chr12	56214131	56214131	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctaagtgtactgctgccgaaGttgccccagttccatggggt	12	11	0	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:56214131G>C	uc001shw.1	+	4	506	c.414G>C	c.(412-414)AAG>AAC	p.K138N	SARNP_uc009zoa.2_5'Flank|SARNP_uc001shs.3_5'Flank|SARNP_uc001sht.2_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	ORMDL2	138					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0						TGCTGCCGAAGTTGCCCCAGT	0.517													C	56214131	G	C	56214131	3	2	247	1	0	0	0	0	1	0	0	0	11270	1020	36	5	424	5	ORMDL2	12	56214131	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	3043424	56214131	77637764	74	121973											
SYCP3	50511	broad.mit.edu	37	chr12	102122964	102122964	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcaccagtaagtagattatCatgattcttctccaactctt	5	10	4	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:102122964C>T	uc001tiq.2	-	8	712	c.580G>A	c.(580-582)GAT>AAT	p.D194N	CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.D194N|SYCP3_uc001tis.2_Missense_Mutation_p.D194N	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	194	Potential.|Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0						AGTAGATTATCATGATTCTTC	0.294													T	102122964	C	T	102122964	3	4	247	1	0	0	0	0	1	0	0	0	15431	826	29	4	138	4	SYCP3	12	102122964	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	45908833	102122964	31728931	75	121974											
OAS3	4940	broad.mit.edu	37	chr12	113388664	113388664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaggaccaggtgcccaGcctgagccttcagtttcctg	13	13	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:113388664G>A	uc001tug.2	+	7	1628	c.1541G>A	c.(1540-1542)AGC>AAC	p.S514N		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	514	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						CAGGTGCCCAGCCTGAGCCTT	0.602													A	113388664	G	A	113388664	3	1	247	1	0	0	0	0	1	0	0	0	10801	971	34	2	1567	2	OAS3	12	113388664	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	11265700	113388664	20463231	76	121975											
KNTC1	9735	broad.mit.edu	37	chr12	123068996	123068996	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaccatttgcagtccAggtgacaatatttataatat	7	9	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:123068996A>C	uc001ucv.2	+	35	3598	c.3435A>C	c.(3433-3435)CCA>CCC	p.P1145P	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1145					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		TTTGCAGTCCAGGTGACAATA	0.413													C	123068996	A	C	123068996	2	2	247	1	0	0	0	0	0	0	0	1	8428	202	7	5		5	KNTC1	12	123068996	Silent	SNP	A	TCGA-FP-8631-01A-11D-2394-08	9680332	123068996	10782899	77	121976											
GPC6	10082	broad.mit.edu	37	chr13	95050872	95050872	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacgcctacaatggcaAtgatgtcaatttccaggaca	7	9	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr13:95050872A>T	uc001vlt.2	+	8	2074	c.1442A>T	c.(1441-1443)AAT>ATT	p.N481I		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	481						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	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)				TACAATGGCAATGATGTCAAT	0.418													T	95050872	A	T	95050872	3	4	247	1	0	0	0	0	1	0	0	0	6602	101	4	5	1472	5	GPC6	13	95050872	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08		95050872	20119006	78	121977											
TC2N	123036	broad.mit.edu	37	chr14	92264149	92264149	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaccttccttggctgAagatttgaaatgcactggtt	11	7	0	3			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr14:92264149A>C	uc001xzu.3	-	8	1026	c.835T>G	c.(835-837)TCA>GCA	p.S279A	TC2N_uc001xzt.3_Missense_Mutation_p.S279A|TC2N_uc010auc.2_Missense_Mutation_p.S279A|TC2N_uc001xzv.3_Missense_Mutation_p.S279A	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	279						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		TCCTTGGCTGAAGATTTGAAA	0.348													C	92264149	A	C	92264149	3	2	247	1	0	0	0	0	1	0	0	0	15662	246	9	5	657	5	TC2N	14	92264149	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08		92264149	15085391	79	121978											
KIAA0284	283638	broad.mit.edu	37	chr14	105353627	105353627	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcatcacccacttggcccGacggacatgggccgtggaga	13	14	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr14:105353627G>A	uc010axb.2	+	12	3275	c.3051G>A	c.(3049-3051)CCG>CCA	p.P1017P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.P947P|KIAA0284_uc001yps.2_Silent_p.P923P|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1017						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CACTTGGCCCGACGGACATGG	0.692													A	105353627	G	A	105353627	2	1	247	1	0	0	0	0	0	0	0	1	8166	1045	37	1		1	KIAA0284	14	105353627	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	13089478	105353627	1995913	80	121979											
FBN1	2200	broad.mit.edu	37	chr15	48779557	48779557	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatggccaggcgggcattCacagcggtaacttccctctg	12	13	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:48779557C>T	uc001zwx.1	-	28	3743	c.3415G>A	c.(3415-3417)GAA>AAA	p.E1139K		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1139	EGF-like 17; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCGGGCATTCACAGCGGTAA	0.483													T	48779557	C	T	48779557	3	4	247	1	0	0	0	0	1	0	0	0	5702	835	29	4	5356	4	FBN1	15	48779557	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08		48779557	53751835	81	121980											
MYO5A	4644	broad.mit.edu	37	chr15	52664321	52664321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctttgtgaaacacacCtgctcatcaactttgcgctg	8	14	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:52664321C>T	uc002aby.2	-	21	3061	c.2817G>A	c.(2815-2817)CAG>CAA	p.Q939Q	MYO5A_uc002abx.3_Silent_p.Q939Q|MYO5A_uc010uge.1_Silent_p.Q808Q	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	939	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAAACACACCTGCTCATCAA	0.463													T	52664321	C	T	52664321	2	4	247	1	0	0	0	0	0	0	0	1	10078	695	24	4		4	MYO5A	15	52664321	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	3884764	52664321	49867071	82	121981											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	13	13	2	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:90775542C>A	uc002bpb.3	-	3	266	c.104G>T	c.(103-105)TGT>TTT	p.C35F	C15orf58_uc002bpc.2_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	calcium and integrin binding 1	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													A	90775542	C	A	90775542	3	1	247	1	0	0	0	0	1	0	0	0	3420	478	17	5	491	5	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	38111221	90775542	11755850	83	121982											
LRRK1	79705	broad.mit.edu	37	chr15	101566255	101566255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtggaaaggattgcaaCgctgcgtgcctatgtgctgg	15	9	0	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:101566255C>T	uc002bwr.2	+	17	2637	c.2318C>T	c.(2317-2319)ACG>ATG	p.T773M	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	773	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			AGGATTGCAACGCTGCGTGCC	0.597													T	101566255	C	T	101566255	3	4	247	1	0	0	0	0	1	0	0	0	9032	536	19	1	2380	1	LRRK1	15	101566255	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	10790713	101566255	965137	84	121983											
USP7	7874	broad.mit.edu	37	chr16	8998312	8998312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacttgcatatagagatGggcttcctgccgctccttcc	9	14	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:8998312G>A	uc002czl.2	-	15	1883	c.1684C>T	c.(1684-1686)CAT>TAT	p.H562Y	USP7_uc010uyk.1_Missense_Mutation_p.H463Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.H463Y|USP7_uc002czk.2_Missense_Mutation_p.H546Y|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	562					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			ovary(3)	3						ATATAGAGATGGGCTTCCTGC	0.582													A	8998312	G	A	8998312	3	1	247	1	0	0	0	0	1	0	0	0	17085	1348	47	4	1692	4	USP7	16	8998312	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08		8998312	81356441	85	121984											
MYLPF	29895	broad.mit.edu	37	chr16	30387532	30387532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccttcgggacaccttcGcagccatgggtgagccccct	12	15	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:30387532G>A	uc002dxv.1	+	3	219	c.163G>A	c.(163-165)GCA>ACA	p.A55T		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	55	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)			GGACACCTTCGCAGCCATGGG	0.478													A	30387532	G	A	30387532	3	1	247	1	0	0	0	0	1	0	0	0	10060	1087	38	1	173	1	MYLPF	16	30387532	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	21389220	30387532	59967221	86	121985											
CDH8	1006	broad.mit.edu	37	chr16	61851482	61851483	+	Missense_Mutation	DNP	GA	GA	AG													cttcaagtaggtaagtcggtGaagagaagaccggaggctca							TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:61851482_61851483GA>AG	uc002eog.1	-	7	1429_1430	c.1177_1178TC>CT	c.(1177-1179)TCA>CTA	p.S393L	CDH8_uc002eoh.2_Missense_Mutation_p.S162L	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	393	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		GTAAGTCGGTGAAGAGAAGACC	0.495													AG	61851483	GA	AG	61851482	3	1	247	1	0	0	0	0	1	0	0	0	3116	1294	45	4	1245	4	CDH8	16	61851482	Missense_Mutation	DNP	GA	TCGA-FP-8631-01A-11D-2394-08	31463950	61851482	28503271	87	121986											
NUDT7	283927	broad.mit.edu	37	chr16	77775522	77775522	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtttaatagaccacaActtccaggcccagccgaatc	9	12	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:77775522A>T	uc010chd.2	+	4	461	c.392A>T	c.(391-393)AAC>ATC	p.N131I	NUDT7_uc010vnj.1_Missense_Mutation_p.N78I	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	131	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2						ATAGACCACAACTTCCAGGCC	0.428													T	77775522	A	T	77775522	3	4	247	1	0	0	0	0	1	0	0	0	10744	43	2	5	406	5	NUDT7	16	77775522	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	15924040	77775522	12579231	88	121987											
PRPF8	10594	broad.mit.edu	37	chr17	1579329	1579329	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcctccctctgagactGgttcaaccgagacttcacac	7	15	3	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:1579329G>A	uc002fte.2	-	18	2686	c.2572C>T	c.(2572-2574)CAG>TAG	p.Q858*		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	858						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTCTGAGACTGGTTCAACCGA	0.532													A	1579329	G	A	1579329	4	1	247	1	0	0	0	0	0	1	0	0	12575	1357	47	4	4539	4	PRPF8	17	1579329	Nonsense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08		1579329	79615881	89	121988											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575		TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:7577548C>T	uc002gim.2	-	7	927	c.733G>A	c.(733-735)GGC>AGC	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	245	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577548	C	T	7577548	3	4	247	1	0	0	0	0	1	0	0	0	16378	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	5998219	7577548	73617662	90	121989											
EVI2B	2124	broad.mit.edu	37	chr17	29631855	29631855	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtggatatttcattttctCtgatgttatccatacaaatg	6	6	2	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:29631855C>G	uc002hgk.2	-	2	928	c.773G>C	c.(772-774)AGA>ACA	p.R258T	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.R273T	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	258	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCATTTTCTCTGATGTTATC	0.363													G	29631855	C	G	29631855	3	3	247	1	0	0	0	0	1	0	0	0	5288	913	32	5	577	5	EVI2B	17	29631855	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	22054307	29631855	51563355	91	121990											
MED24	9862	broad.mit.edu	37	chr17	38185183	38185183	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcccaggactcccagCagtccctccggtgacttaga	11	14	0	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:38185183C>A	uc002htt.2	-	14	1618	c.1305G>T	c.(1303-1305)CTG>CTT	p.L435L	MED24_uc010wes.1_Silent_p.L295L|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.L460L|MED24_uc002htu.2_Silent_p.L422L|MED24_uc010cwn.2_Silent_p.L422L|MED24_uc010weu.1_Silent_p.L345L|MED24_uc010wev.1_Silent_p.L385L|MED24_uc010wew.1_Silent_p.L376L|MED24_uc010wex.1_Silent_p.L140L	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	435					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			ovary(1)	1	Colorectal(19;0.000442)					GGACTCCCAGCAGTCCCTCCG	0.582													A	38185183	C	A	38185183	2	1	247	1	0	0	0	0	0	0	0	1	9442	697	25	5		5	MED24	17	38185183	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	8553328	38185183	43010027	92	121991											
METTL2A	339175	broad.mit.edu	37	chr17	60525117	60525117	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatggaaccagagtttacttCttcacacaaggtatgaaaca	8	8	2	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:60525117C>G	uc002izv.2	+	8	990	c.972C>G	c.(970-972)TTC>TTG	p.F324L	METTL2A_uc002izw.2_Missense_Mutation_p.F188L	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	324							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GAGTTTACTTCTTCACACAAG	0.418													G	60525117	C	G	60525117	3	3	247	1	0	0	0	0	1	0	0	0	9499	912	32	5	1002	5	METTL2A	17	60525117	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	22339934	60525117	20670093	93	121992											
NPLOC4	55666	broad.mit.edu	37	chr17	79573783	79573783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattcggccacgggaggtgCccctcgcaccctgacttaat	10	16	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:79573783C>T	uc002kat.3	-	7	770	c.588G>A	c.(586-588)GGG>GGA	p.G196G	NPLOC4_uc002kau.3_Silent_p.G196G|NPLOC4_uc010wur.1_Silent_p.G35G	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	196					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			ACGGGAGGTGCCCCTCGCACC	0.502													T	79573783	C	T	79573783	2	4	247	1	0	0	0	0	0	0	0	1	10586	726	26	2		2	NPLOC4	17	79573783	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	19048666	79573783	1621427	94	121993											
MUC16	94025	broad.mit.edu	37	chr19	9066002	9066002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttggaggtgaactggtTacaagttctgggcttgtgtg	15	5	1	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:9066002T>C	uc002mkp.2	-	3	21648	c.21444A>G	c.(21442-21444)GTA>GTG	p.V7148V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7150	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGAACTGGTTACAAGTTCTG	0.498													C	9066002	T	C	9066002	2	2	247	1	0	0	0	0	0	0	0	1	9973	1741	61	3		3	MUC16	19	9066002	Silent	SNP	T	TCGA-FP-8631-01A-11D-2394-08		9066002	50062981	95	121994											
TSHZ3	57616	broad.mit.edu	37	chr19	31767537	31767537	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctaaggtgaagtttaacagcGtgcttgctggcaaaggtccg	13	8	0	1	rs145440380	byFrequency	TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:31767537G>C	uc002nsy.3	-	2	3227	c.3162C>G	c.(3160-3162)CAC>CAG	p.H1054Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	1054	C2H2-type 5.				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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GTTTAACAGCGTGCTTGCTGG	0.483													C	31767537	G	C	31767537	3	2	247	1	0	0	0	0	1	0	0	0	16622	1136	40	5	87	5	TSHZ3	19	31767537	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	22701535	31767537	27361446	96	121995											
PPP1R12C	54776	broad.mit.edu	37	chr19	55603602	55603602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttacctgcgtggcccgCtccagctccaccttgagctg	10	18	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:55603602C>T	uc002qix.2	-	19	2164	c.2148G>A	c.(2146-2148)GAG>GAA	p.E716E	PPP1R12C_uc010yfs.1_Silent_p.E641E|PPP1R12C_uc002qiy.2_Silent_p.E714E	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	716	Potential.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGTGGCCCGCTCCAGCTCCA	0.706													T	55603602	C	T	55603602	2	4	247	1	0	0	0	0	0	0	0	1	12356	796	28	2		2	PPP1R12C	19	55603602	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	23836065	55603602	3525381	97	121996											
NLRP13	126204	broad.mit.edu	37	chr19	56423693	56423693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtcttctttgttaaacGtgaagttcatagaccacagc	8	9	3	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:56423693G>A	uc010ygg.1	-	5	1515	c.1490C>T	c.(1489-1491)ACG>ATG	p.T497M		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	497	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTGTTAAACGTGAAGTTCAT	0.483													A	56423693	G	A	56423693	3	1	247	1	0	0	0	0	1	0	0	0	10475	1145	40	1	1667	1	NLRP13	19	56423693	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	820091	56423693	2705290	98	121997											
TMC2	117532	broad.mit.edu	37	chr20	2582792	2582792	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaacaagagagtaacaaaGaagaaaatatccatctgaca	7	6	1	5			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr20:2582792G>T	uc002wgf.1	+	11	1273	c.1258G>T	c.(1258-1260)GAA>TAA	p.E420*	TMC2_uc002wgg.1_Nonsense_Mutation_p.E404*|TMC2_uc010zpw.1_Nonsense_Mutation_p.E252*|TMC2_uc010zpx.1_Nonsense_Mutation_p.E251*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	420	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						GAGTAACAAAGAAGAAAATAT	0.403													T	2582792	G	T	2582792	4	4	247	1	0	0	0	0	0	1	0	0	15982	943	33	5	1300	5	TMC2	20	2582792	Nonsense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08		2582792	60442728	99	121998											
CHD6	84181	broad.mit.edu	37	chr20	40044276	40044276	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatactggagctaagaagctCtcctgtgaacacacaaacag	8	10	1	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr20:40044276C>G	uc002xka.1	-	34	6667	c.6489G>C	c.(6487-6489)GAG>GAC	p.E2163D	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2163					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTAAGAAGCTCTCCTGTGAAC	0.498													G	40044276	C	G	40044276	3	3	247	1	0	0	0	0	1	0	0	0	3329	912	32	5	1674	5	CHD6	20	40044276	Missense_Mutation	SNP	C	TCGA-FP-8631-01A-11D-2394-08	37461484	40044276	22981244	100	121999											
EDN3	1908	broad.mit.edu	37	chr20	57899407	57899407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtcaaggaccaacaaAgcaagcaggctttagacctc	9	10	1	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr20:57899407A>G	uc002yap.2	+	5	979	c.610A>G	c.(610-612)AGC>GGC	p.S204G	EDN3_uc002yao.1_Silent_p.K188K|EDN3_uc002yaq.2_Missense_Mutation_p.S204G|EDN3_uc002yar.2_Silent_p.K215K|EDN3_uc002yas.2_Missense_Mutation_p.S190G	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	204					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			skin(1)	1	all_lung(29;0.0115)					GGACCAACAAAGCAAGCAGGC	0.512													G	57899407	A	G	57899407	3	3	247	1	0	0	0	0	1	0	0	0	4918	72	3	3	667	3	EDN3	20	57899407	Missense_Mutation	SNP	A	TCGA-FP-8631-01A-11D-2394-08	17855131	57899407	5126113	101	122000											
AGPAT3	56894	broad.mit.edu	37	chr21	45391318	45391318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggaaacaagaacccGtccctgctggggatcctcta	10	12	2	2			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr21:45391318G>A	uc002zdv.2	+	7	936	c.714G>A	c.(712-714)CCG>CCA	p.P238P	AGPAT3_uc002zdw.2_Silent_p.P238P|AGPAT3_uc002zdx.2_Silent_p.P325P|AGPAT3_uc002zdy.2_Silent_p.P176P	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	238	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		ACAAGAACCCGTCCCTGCTGG	0.607													A	45391318	G	A	45391318	2	1	247	1	0	0	0	0	0	0	0	1	388	1132	40	1		1	AGPAT3	21	45391318	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08		45391318	2738577	102	122001											
KCTD17	79734	broad.mit.edu	37	chr22	37455391	37455391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacaactacggcagcgaGgaccaggcagagttcctgtg	12	12	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr22:37455391G>A	uc010gxb.2	+	5	547	c.525G>A	c.(523-525)GAG>GAA	p.E175E	KCTD17_uc010gxa.1_Silent_p.E175E|KCTD17_uc011amv.1_Silent_p.E182E|KCTD17_uc010gxc.2_Silent_p.E175E	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerisation domain	182						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0						ACGGCAGCGAGGACCAGGCAG	0.612													A	37455391	G	A	37455391	2	1	247	1	0	0	0	0	0	0	0	1	8104	991	35	4		4	KCTD17	22	37455391	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08		37455391	13849175	103	122002											
TRIOBP	11078	broad.mit.edu	37	chr22	38130970	38130970	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggctggggggcagagGgagcgtgtccatacccgcgt	19	10	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr22:38130970G>C	uc003atr.2	+	9	4898	c.4627G>C	c.(4627-4629)GGA>CGA	p.G1543R	TRIOBP_uc003atu.2_Missense_Mutation_p.G1371R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1543					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)	1	Melanoma(58;0.0574)					GGGGGCAGAGGGAGCGTGTCC	0.677													C	38130970	G	C	38130970	3	2	247	1	0	0	0	0	1	0	0	0	16550	1233	43	5	4653	5	TRIOBP	22	38130970	Missense_Mutation	SNP	G	TCGA-FP-8631-01A-11D-2394-08	675579	38130970	13173596	104	122003											
SCUBE1	80274	broad.mit.edu	37	chr22	43600117	43600117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtagttctggggatgCgccagcacgtcgaagagggc	16	8	1	2	rs142852064		TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr22:43600117C>T	uc003bdt.1	-	22	2941	c.2853G>A	c.(2851-2853)GCG>GCA	p.A951A		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	951					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			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTGGGGATGCGCCAGCACGT	0.567													T	43600117	C	T	43600117	2	4	247	1	0	0	0	0	0	0	0	1	13944	755	27	1		1	SCUBE1	22	43600117	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08	5469147	43600117	7704449	105	122004											
ARSF	416	broad.mit.edu	37	chrX	3002363	3002363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattatgggtttgactactaCtatggcatgccgttcactct	8	9	2	1	rs138766548	byFrequency	TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chrX:3002363C>T	uc004cre.1	+	6	707	c.486C>T	c.(484-486)TAC>TAT	p.Y162Y	ARSF_uc004crf.1_Silent_p.Y162Y	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	162						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		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)				TTGACTACTACTATGGCATGC	0.507													T	3002363	C	T	3002363	2	4	247	1	0	0	0	0	0	0	0	1	991	576	20	4		4	ARSF	23	3002363	Silent	SNP	C	TCGA-FP-8631-01A-11D-2394-08		3002363	152268197	106	122005											
MAGEB3	4114	broad.mit.edu	37	chrX	30254929	30254929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttttgggccaaggtcaaTaaaactgtccccagtgcgtt	11	9	1	0			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chrX:30254929T>C	uc004dca.1	+	5	1625	c.888T>C	c.(886-888)AAT>AAC	p.N296N		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	296	MAGE.										0						CCAAGGTCAATAAAACTGTCC	0.498													C	30254929	T	C	30254929	2	2	247	1	0	0	0	0	0	0	0	1	9177	1403	49	3		3	MAGEB3	23	30254929	Silent	SNP	T	TCGA-FP-8631-01A-11D-2394-08	27252566	30254929	125015631	107	122006											
HUWE1	10075	broad.mit.edu	37	chrX	53579769	53579769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtacaggaagccaggctGcttgtatccataggagagcc	13	9	0	1			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chrX:53579769G>A	uc004dsp.2	-	62	8982	c.8580C>T	c.(8578-8580)AGC>AGT	p.S2860S	HUWE1_uc004dsn.2_Silent_p.S1684S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2860					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AAGCCAGGCTGCTTGTATCCA	0.572													A	53579769	G	A	53579769	2	1	247	1	0	0	0	0	0	0	0	1	7461	1310	46	2		2	HUWE1	23	53579769	Silent	SNP	G	TCGA-FP-8631-01A-11D-2394-08	23324840	53579769	101690791	108	122007											
ACAP3	116983	broad.mit.edu	37	chr1	1237376	1237377	+	Frame_Shift_Ins	INS	-	-	A													gggccactcactctttgacaINSaagctctggagctgctgccg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1237375_1237376C>CA	uc001aeb.2	-	4	404_405	c.330_331G>TG	c.(328-333)tttgtcfs	p.F110fs	ACAP3_uc001aea.2_Frame_Shift_Ins_p.F68fs|ACAP3_uc001aec.1_Frame_Shift_Ins_p.F68fs	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	110					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CACTCTTTGACAAAGCTCTGGA	0.653													A	1237377	-	A	1237376	7	5	248	1	0	1	1	0	0	0	0	0	120	127	5	0	2254	0	ACAP3	1	1237376	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08		1237376	248013245	1	122008											
DVL1	1855	broad.mit.edu	37	chr1	1273751	1273751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagctgctggcgtactTccgggcctcccgccgctcct	11	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1273751T>C	uc001aer.3	-	13	1377	c.1330A>G	c.(1330-1332)AAG>GAG	p.K444E	DVL1_uc002quu.2_Missense_Mutation_p.K186E|DVL1_uc009vka.2_Missense_Mutation_p.K127E|DVL1_uc001aeu.1_Missense_Mutation_p.K203E	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	469	DEP.				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				0	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)		CTGGCGTACTTCCGGGCCTCC	0.652													C	1273751	T	C	1273751	3	2	248	1	0	0	0	0	1	0	0	0	4835	1792	62	3	694	3	DVL1	1	1273751	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	36375	1273751	247976870	2	122009											
MXRA8	54587	broad.mit.edu	37	chr1	1290093	1290093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgctgtggctggagccGttgcccggagagccccgggg	19	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1290093G>A	uc001aew.2	-	5	949	c.918C>T	c.(916-918)AAC>AAT	p.N306N	MXRA8_uc001aex.3_Silent_p.N306N|MXRA8_uc001aey.3_Silent_p.N306N|MXRA8_uc010nyl.1_Silent_p.N306N|MXRA8_uc001aez.2_Silent_p.N205N|MXRA8_uc001afa.2_Silent_p.N297N	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	306	Extracellular (Potential).					integral to membrane					0	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)		GGCTGGAGCCGTTGCCCGGAG	0.741													A	1290093	G	A	1290093	2	1	248	1	0	0	0	0	0	0	0	1	10005	1136	40	1		1	MXRA8	1	1290093	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	16342	1290093	247960528	3	122010											
ATAD3A	55210	broad.mit.edu	37	chr1	1455603	1455603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggcgcgcgccaaggcCgagcgggagaatgcagacat	17	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1455603C>T	uc001afz.1	+	6	835	c.741C>T	c.(739-741)GCC>GCT	p.A247A	ATAD3A_uc001aga.1_Silent_p.A199A|ATAD3A_uc001agb.1_Silent_p.A120A	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	247	Potential.						ATP binding|nucleoside-triphosphatase activity|protein binding			skin(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;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)		GCGCCAAGGCCGAGCGGGAGA	0.677													T	1455603	C	T	1455603	2	4	248	1	0	0	0	0	0	0	0	1	1073	639	23	1		1	ATAD3A	1	1455603	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	165510	1455603	247795018	4	122011											
CDK11B	984	broad.mit.edu	37	chr1	1575703	1575703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcgacagggcaggggagtCgggcacatagtcgccctctg	18	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1575703C>T	uc001agv.1	-	15	1297	c.1186G>A	c.(1186-1188)GAC>AAC	p.D396N	CDK11B_uc009vkj.2_Missense_Mutation_p.D53N|CDK11B_uc001ags.1_Missense_Mutation_p.D254N|CDK11B_uc001agt.1_Missense_Mutation_p.D179N|CDK11B_uc001aha.1_Missense_Mutation_p.D362N|CDK11B_uc001agw.1_Missense_Mutation_p.D351N|CDK11B_uc001agy.1_Missense_Mutation_p.D394N|CDK11B_uc001agx.1_Missense_Mutation_p.D385N|CDK11B_uc001agz.1_Missense_Mutation_p.D140N	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	409					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			skin(1)	1						GCAGGGGAGTCGGGCACATAG	0.667													T	1575703	C	T	1575703	3	4	248	1	0	0	0	0	1	0	0	0	3127	884	31	1	1202	1	CDK11B	1	1575703	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	120100	1575703	247674918	5	122012											
PANK4	55229	broad.mit.edu	37	chr1	2451312	2451312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgagagtctggtgggCgccgccgtagacgtcccgca	15	15	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:2451312C>T	uc001ajm.1	-	6	790	c.781G>A	c.(781-783)GCC>ACC	p.A261T	PANK4_uc010nza.1_Missense_Mutation_p.A222T	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	261					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	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;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTCTGGTGGGCGCCGCCGTAG	0.682													T	2451312	C	T	2451312	3	4	248	1	0	0	0	0	1	0	0	0	11419	768	27	1	1596	1	PANK4	1	2451312	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	875609	2451312	246799309	6	122013											
PANK4	55229	broad.mit.edu	37	chr1	2453179	2453179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggagtggtcgaaagacCgcaccttggcgactttgtgc	13	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:2453179C>T	uc001ajm.1	-	2	194	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	PANK4_uc010nza.1_Missense_Mutation_p.R62Q	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	62					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	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;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTCGAAAGACCGCACCTTGGC	0.607													T	2453179	C	T	2453179	3	4	248	1	0	0	0	0	1	0	0	0	11419	652	23	1	2208	1	PANK4	1	2453179	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1867	2453179	246797442	7	122014											
PRDM16	63976	broad.mit.edu	37	chr1	3342201	3342201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacctccagcggcacgtccGgaacatccacaacaaggaga	10	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:3342201G>A	uc001akf.2	+	13	3076	c.2996G>A	c.(2995-2997)CGG>CAG	p.R999Q	PRDM16_uc001akc.2_Missense_Mutation_p.R998Q|PRDM16_uc001akd.2_Missense_Mutation_p.R998Q|PRDM16_uc001ake.2_Missense_Mutation_p.R999Q|PRDM16_uc009vlh.2_Missense_Mutation_p.R699Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	999	C2H2-type 9.|Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		CGGCACGTCCGGAACATCCAC	0.617			T	EVI1	MDS|AML								A	3342201	G	A	3342201	3	1	248	1	0	0	0	0	1	0	0	0	12457	1116	39	1	3046	1	PRDM16	1	3342201	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	889022	3342201	245908420	8	122015											
TP73	7161	broad.mit.edu	37	chr1	3644706	3644706	+	Frame_Shift_Del	DEL	C	C	-													cttccagccttcaagcagagCccccctgccgtccccgccct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:3644706delC	uc001akp.2	+	9	1109	c.999delC	c.(997-999)AGCfs	p.S333fs	TP73_uc001akq.2_Frame_Shift_Del_p.S333fs|TP73_uc010nzj.1_Frame_Shift_Del_p.S284fs|TP73_uc001akr.2_Frame_Shift_Del_p.S284fs|TP73_uc009vlk.1_Frame_Shift_Del_p.S284fs|TP73_uc001aks.2_Frame_Shift_Del_p.S284fs|TP73_uc010nzk.1_Frame_Shift_Del_p.S262fs|TP73_uc010nzl.1_5'UTR	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	333					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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TCAAGCAGAGCCCCCCTGCCG	0.682													-	3644706	C	-	3644706	7	5	248	1	0	1	0	1	0	0	0	0	16390	738	26	0	1072	0	TP73	1	3644706	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	302505	3644706	245605915	9	122016											
TP73	7161	broad.mit.edu	37	chr1	3646621	3646621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccatgaacaaggtgcaCgggggcatgaacaagctgcc	13	12	0	2	rs139554277	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:3646621C>T	uc001akp.2	+	11	1364	c.1254C>T	c.(1252-1254)CAC>CAT	p.H418H	TP73_uc001akq.2_Intron|TP73_uc001akr.2_Silent_p.H369H|TP73_uc009vlk.1_Intron|TP73_uc001aks.2_Silent_p.H369H|TP73_uc010nzk.1_Silent_p.H347H|TP73_uc010nzl.1_Intron	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	418					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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACAAGGTGCACGGGGGCATGA	0.667													T	3646621	C	T	3646621	2	4	248	1	0	0	0	0	0	0	0	1	16390	535	19	1		1	TP73	1	3646621	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1915	3646621	245604000	10	122017											
NPHP4	261734	broad.mit.edu	37	chr1	5964781	5964781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccagctgcagtcgtggcGtcgttgcgggtgggaagcgg	20	9	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:5964781G>A	uc001alq.1	-	16	2305	c.2039C>T	c.(2038-2040)ACG>ATG	p.T680M	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	680					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		CAGTCGTGGCGTCGTTGCGGG	0.597													A	5964781	G	A	5964781	3	1	248	1	0	0	0	0	1	0	0	0	10581	1145	40	1	2301	1	NPHP4	1	5964781	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2318160	5964781	243285840	11	122018											
CHD5	26038	broad.mit.edu	37	chr1	6186673	6186673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtagttgacctgcttgCggatgcgcttgcccttgccc	12	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:6186673C>T	uc001amb.1	-	26	4137	c.4037G>A	c.(4036-4038)CGC>CAC	p.R1346H	CHD5_uc001alz.1_Missense_Mutation_p.R203H|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1346					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		GACCTGCTTGCGGATGCGCTT	0.667													T	6186673	C	T	6186673	3	4	248	1	0	0	0	0	1	0	0	0	3328	768	27	1	1891	1	CHD5	1	6186673	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	221892	6186673	243063948	12	122019											
DNAJC11	55735	broad.mit.edu	37	chr1	6706012	6706012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattccacgggatgaaaacTgcagagcacagtttgttgtc	12	8	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:6706012T>C	uc001aof.2	-	8	837	c.731A>G	c.(730-732)CAG>CGG	p.Q244R	DNAJC11_uc010nzt.1_Missense_Mutation_p.Q206R|DNAJC11_uc001aog.2_Missense_Mutation_p.Q244R|DNAJC11_uc010nzu.1_Missense_Mutation_p.Q154R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	244					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGAAAACTGCAGAGCACA	0.542													C	6706012	T	C	6706012	3	2	248	1	0	0	0	0	1	0	0	0	4630	1580	55	3	984	3	DNAJC11	1	6706012	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	519339	6706012	242544609	13	122020											
PER3	8863	broad.mit.edu	37	chr1	7887444	7887444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagccgcgacctcacccGgaagagaatacgcagccccc	9	19	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:7887444G>A	uc001aoo.2	+	17	2606	c.2431G>A	c.(2431-2433)GGA>AGA	p.G811R	PER3_uc009vmg.1_Missense_Mutation_p.G819R|PER3_uc009vmh.1_Missense_Mutation_p.G812R|PER3_uc001aop.2_Missense_Mutation_p.G819R|PER3_uc010nzw.1_Missense_Mutation_p.G500R	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	811	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	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)		GACCTCACCCGGAAGAGAATA	0.647													A	7887444	G	A	7887444	3	1	248	1	0	0	0	0	1	0	0	0	11731	1117	39	1	2497	1	PER3	1	7887444	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1181432	7887444	241363177	14	122021											
PARK7	11315	broad.mit.edu	37	chr1	8025395	8025395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgtagattaaggtcacCgttgcaggcctggctggaaa	12	9	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:8025395C>T	uc001aou.3	+	3	207	c.102C>T	c.(100-102)ACC>ACT	p.T34T	PARK7_uc001aow.3_Silent_p.T34T|PARK7_uc001aox.3_Silent_p.T34T|PARK7_uc001aov.3_Silent_p.T34T	NM_001123377	NP_001116849	Q99497	PARK7_HUMAN	Parkinson disease protein 7	34					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity				0	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;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAGGTCACCGTTGCAGGCC	0.368													T	8025395	C	T	8025395	2	4	248	1	0	0	0	0	0	0	0	1	11450	639	23	1		1	PARK7	1	8025395	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	137951	8025395	241225226	15	122022											
CLSTN1	22883	broad.mit.edu	37	chr1	9795564	9795564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctgcgaattccgggcGtggggaactgccgggagttc	17	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:9795564G>A	uc001aqh.2	-	13	2603	c.1844C>T	c.(1843-1845)ACG>ATG	p.T615M	CLSTN1_uc001aqi.2_Missense_Mutation_p.T605M|CLSTN1_uc010oag.1_Missense_Mutation_p.T596M|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	615	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATTCCGGGCGTGGGGAACTG	0.507													A	9795564	G	A	9795564	3	1	248	1	0	0	0	0	1	0	0	0	3561	1145	40	1	1129	1	CLSTN1	1	9795564	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1770169	9795564	239455057	16	122023											
CLSTN1	22883	broad.mit.edu	37	chr1	9811556	9811556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaacagtaaagggcacGtctggagtgatgatttcgta	12	6	2	2	rs140241620		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:9811556G>A	uc001aqh.2	-	5	1383	c.624C>T	c.(622-624)GAC>GAT	p.D208D	CLSTN1_uc001aqi.2_Silent_p.D198D|CLSTN1_uc010oag.1_Silent_p.D208D	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	208	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TAAAGGGCACGTCTGGAGTGA	0.532													A	9811556	G	A	9811556	2	1	248	1	0	0	0	0	0	0	0	1	3561	1136	40	1		1	CLSTN1	1	9811556	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	15992	9811556	239439065	17	122024											
TARDBP	23435	broad.mit.edu	37	chr1	11082644	11082644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagcatccaatgcagggtCgggcagtggttttaatggag	14	7	1	0	rs80356743		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11082644C>T	uc001art.2	+	6	1312	c.1178C>T	c.(1177-1179)TCG>TTG	p.S393L	TARDBP_uc010oap.1_Missense_Mutation_p.S277L	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	393	Gly-rich.		S -> L (in ALS10).		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			ovary(2)	2	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)		AATGCAGGGTCGGGCAGTGGT	0.498													T	11082644	C	T	11082644	3	4	248	1	0	0	0	0	1	0	0	0	15554	893	31	1	1196	1	TARDBP	1	11082644	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1271088	11082644	238167977	18	122025											
EXOSC10	5394	broad.mit.edu	37	chr1	11141137	11141137	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactgcggctgaggtgtAccttgaggcagatgtccctg	15	9	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11141137A>G	uc001asa.2	-	11	1487	c.1437_splice	c.e11+1	p.K479_splice	EXOSC10_uc001asb.2_Splice_Site_p.K479_splice|EXOSC10_uc009vmy.1_Splice_Site_p.K479_splice	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1						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			upper_aerodigestive_tract(1)	1	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)		GCTGAGGTGTACCTTGAGGCA	0.557													G	11141137	A	G	11141137	5	3	248	1	0	0	0	0	0	0	1	0	5314	405	14	3	1278	3	EXOSC10	1	11141137	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	58493	11141137	238109484	19	122026											
MTOR	2475	broad.mit.edu	37	chr1	11181345	11181345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagcttggccaggtcGtccccagctgtattattgac	10	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11181345G>A	uc001asd.2	-	49	7012	c.6891C>T	c.(6889-6891)GAC>GAT	p.D2297D	MTOR_uc001asc.2_Silent_p.D502D	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2297	PI3K/PI4K.				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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TGGCCAGGTCGTCCCCAGCTG	0.577													A	11181345	G	A	11181345	2	1	248	1	0	0	0	0	0	0	0	1	9954	1136	40	1		1	MTOR	1	11181345	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	40208	11181345	238069276	20	122027											
FBXO44	93611	broad.mit.edu	37	chr1	11716013	11716013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctctggcgggacctcAtcgacctcgtgaccctctgg	12	16	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11716013A>G	uc001asm.2	+	2	247	c.121A>G	c.(121-123)ATC>GTC	p.I41V	FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Missense_Mutation_p.I41V|FBXO44_uc010oaq.1_Missense_Mutation_p.I41V|FBXO44_uc001asl.2_Missense_Mutation_p.I41V|FBXO44_uc001asn.2_Missense_Mutation_p.I41V|FBXO44_uc010oar.1_Missense_Mutation_p.I41V|FBXO44_uc010oas.1_5'UTR	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	41	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	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)		GCGGGACCTCATCGACCTCGT	0.632													G	11716013	A	G	11716013	3	3	248	1	0	0	0	0	1	0	0	0	5753	217	8	3	123	3	FBXO44	1	11716013	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	534668	11716013	237534608	21	122028											
MTHFR	4524	broad.mit.edu	37	chr1	11854864	11854864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcccagaagatgggaCgtacatcttcctctcggcgc	13	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11854864C>T	uc001atc.1	-	7	1272	c.1088G>A	c.(1087-1089)CGT>CAT	p.R363H	MTHFR_uc001atb.1_Missense_Mutation_p.R386H	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	363					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	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)	GAAGATGGGACGTACATCTTC	0.602													T	11854864	C	T	11854864	3	4	248	1	0	0	0	0	1	0	0	0	9931	536	19	1	906	1	MTHFR	1	11854864	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	138851	11854864	237395757	22	122029											
MFN2	9927	broad.mit.edu	37	chr1	12059112	12059112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttcatcctgaacaaccGctgggatgcatctgcctcag	8	14	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:12059112G>A	uc001atn.3	+	8	1229	c.776G>A	c.(775-777)CGC>CAC	p.R259H	MFN2_uc009vni.2_Missense_Mutation_p.R259H	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	259	Cytoplasmic (Potential).|GTP (Probable).			R->L: Does not affect its ability to cluster mitochondria; when overexpressed.	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			ovary(1)	1	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)		CTGAACAACCGCTGGGATGCA	0.552													A	12059112	G	A	12059112	3	1	248	1	0	0	0	0	1	0	0	0	9524	1087	38	1	798	1	MFN2	1	12059112	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	204248	12059112	237191509	23	122030											
MFN2	9927	broad.mit.edu	37	chr1	12065913	12065913	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgagttccatttctctctCggatggaccatgctggtgaa	10	9	2	2	rs140924661	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:12065913C>T	uc001atn.3	+	15	2094	c.1641C>T	c.(1639-1641)CTC>CTT	p.L547L	MFN2_uc009vni.2_Silent_p.L547L	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	547	Cytoplasmic (Potential).				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			ovary(1)	1	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)		ATTTCTCTCTCGGATGGACCA	0.532													T	12065913	C	T	12065913	2	4	248	1	0	0	0	0	0	0	0	1	9524	871	31	1		1	MFN2	1	12065913	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6801	12065913	237184708	24	122031											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954550	12954550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctcacgtacaactcacGctcataaccgaaggctaaaa	7	13	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:12954550G>A	uc001auo.2	-	3	806	c.733C>T	c.(733-735)CGT>TGT	p.R245C		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	PRAME family member 10	245											0	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)		TACAACTCACGCTCATAACCG	0.468													A	12954550	G	A	12954550	3	1	248	1	0	0	0	0	1	0	0	0	12426	1087	38	1	699	1	PRAMEF10	1	12954550	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	888637	12954550	236296071	25	122032											
PRDM2	7799	broad.mit.edu	37	chr1	14108525	14108525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttgagctcagcaaaaTgtcgtcgaataagctcaaat	9	7	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:14108525T>C	uc001avi.2	+	8	5091	c.4235T>C	c.(4234-4236)ATG>ACG	p.M1412T	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.M1412T|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.M1211T|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1412	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		CTCAGCAAAATGTCGTCGAAT	0.403													C	14108525	T	C	14108525	3	2	248	1	0	0	0	0	1	0	0	0	12458	1464	51	3	4261	3	PRDM2	1	14108525	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1153975	14108525	235142096	26	122033											
CTRC	11330	broad.mit.edu	37	chr1	15769935	15769935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgatattgccctcatcaaGcttgcagagcatgtggagct	10	9	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:15769935G>T	uc001awi.1	+	5	401	c.378G>T	c.(376-378)AAG>AAT	p.K126N	CTRC_uc001awj.1_Missense_Mutation_p.K126N	NM_007272	NP_009203	Q99895	CTRC_HUMAN	chymotrypsin C preproprotein	126	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCATCAAGCTTGCAGAGC	0.602													T	15769935	G	T	15769935	3	4	248	1	0	0	0	0	1	0	0	0	4027	962	34	5	396	5	CTRC	1	15769935	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1661410	15769935	233480686	27	122034											
SPEN	23013	broad.mit.edu	37	chr1	16256120	16256120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaccagagagagaagacGttaggaaaaactattgcagt	12	5	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:16256120G>A	uc001axk.1	+	11	3589	c.3385G>A	c.(3385-3387)GTT>ATT	p.V1129I	SPEN_uc010obp.1_Missense_Mutation_p.V1088I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1129					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GAGAGAAGACGTTAGGAAAAA	0.393													A	16256120	G	A	16256120	3	1	248	1	0	0	0	0	1	0	0	0	15037	1145	40	1	3427	1	SPEN	1	16256120	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	486185	16256120	232994501	28	122035											
CLCNKB	1188	broad.mit.edu	37	chr1	16377094	16377094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcttcctagcttctcGggtaaggggccttgagtggg	16	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:16377094G>A	uc001axw.3	+	11	1132	c.1052G>A	c.(1051-1053)CGG>CAG	p.R351Q	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R351Q|CLCNKB_uc001axy.3_Missense_Mutation_p.R182Q	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	351					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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)		CTAGCTTCTCGGGTAAGGGGC	0.493													A	16377094	G	A	16377094	3	1	248	1	0	0	0	0	1	0	0	0	3470	1130	39	1	1238	1	CLCNKB	1	16377094	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	120974	16377094	232873527	29	122036											
EPHA2	1969	broad.mit.edu	37	chr1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-													acactcggctctgctgcggcGgggggatgctccaggagacg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	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)	TCTGCTGCGGCGGGGGGATGC	0.662													-	16462199	G	-	16462199	7	5	248	1	0	1	0	1	0	0	0	0	5167	1116	39	0	1599	0	EPHA2	1	16462199	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	85105	16462199	232788422	30	122037											
PADI2	11240	broad.mit.edu	37	chr1	17402299	17402299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcacgcaccaccttggTcatcctccgaccaccagacc	7	18	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:17402299T>C	uc001baf.2	-	12	1412	c.1330A>G	c.(1330-1332)ACC>GCC	p.T444A	PADI2_uc010ocm.1_Missense_Mutation_p.T328A	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	444					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACCACCTTGGTCATCCTCCGA	0.597											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	17402299	T	C	17402299	3	2	248	1	0	0	0	0	1	0	0	0	11378	1667	58	3	687	3	PADI2	1	17402299	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	940100	17402299	231848322	31	122038											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809344	18809344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctccccagtgacacgttCgccctggcgcacacggccac	10	20	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:18809344C>T	uc001bax.2	+	1	1921	c.1869C>T	c.(1867-1869)TTC>TTT	p.F623F	KLHDC7A_uc009vpg.2_Silent_p.F405F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	623	Kelch 4.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		GTGACACGTTCGCCCTGGCGC	0.667													T	18809344	C	T	18809344	2	4	248	1	0	0	0	0	0	0	0	1	8360	883	31	1		1	KLHDC7A	1	18809344	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1407045	18809344	230441277	32	122039											
PAX7	5081	broad.mit.edu	37	chr1	19029646	19029646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccaccatgcaccagggCgggctggctgcagcggctgc	15	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:19029646C>T	uc001bay.2	+	7	1609	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	PAX7_uc001baz.2_Silent_p.G335G|PAX7_uc010oct.1_Silent_p.G337G	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	337					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		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)		TGCACCAGGGCGGGCTGGCTG	0.657			T	FOXO1A	alveolar rhabdomyosarcoma								T	19029646	C	T	19029646	2	4	248	1	0	0	0	0	0	0	0	1	11484	755	27	1		1	PAX7	1	19029646	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	220302	19029646	230220975	33	122040											
UBR4	23352	broad.mit.edu	37	chr1	19499498	19499498	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagacctggacctttgagatCgcggcatcaagggtgtagat	14	8	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:19499498C>T	uc001bbi.2	-	25	3385	c.3381G>A	c.(3379-3381)GCG>GCA	p.A1127A	UBR4_uc001bbm.1_Silent_p.A338A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1127					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		CCTTTGAGATCGCGGCATCAA	0.448													T	19499498	C	T	19499498	2	4	248	1	0	0	0	0	0	0	0	1	16901	871	31	1		1	UBR4	1	19499498	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	469852	19499498	229751123	34	122041											
AKR7A2	8574	broad.mit.edu	37	chr1	19635035	19635035	+	Frame_Shift_Del	DEL	G	G	-													taggtagaagaggtccacttGgggacactgcagcctcttca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:19635034_19635034TG>T	uc001bbw.3	-	1	423	c.401_401CA>A	c.(400-402)caafs	p.Q134fs	AKR7A2_uc009vpi.1_Frame_Shift_Del_p.Q134fs	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	134					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		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;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGTCCACTTGGGGACACTG	0.602													-	19635035	G	-	19635035	7	5	248	1	0	1	0	1	0	0	0	0	475	1357	47	0	703	0	AKR7A2	1	19635035	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	135537	19635035	229615586	35	122042											
HTR6	3362	broad.mit.edu	37	chr1	20005415	20005415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcccctccccccaggccGtgtgcgactgcatctcccca	8	21	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:20005415G>A	uc001bcl.2	+	3	1344	c.877G>A	c.(877-879)GTG>ATG	p.V293M		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	293	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		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)	CCCCCAGGCCGTGTGCGACTG	0.607													A	20005415	G	A	20005415	3	1	248	1	0	0	0	0	1	0	0	0	7451	1145	40	1	887	1	HTR6	1	20005415	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	370380	20005415	229245206	36	122043											
TMCO4	255104	broad.mit.edu	37	chr1	20009614	20009614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggtccatgccatggctGcagatggggggcctttcagg	17	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:20009614G>A	uc001bcn.2	-	16	2066	c.1824C>T	c.(1822-1824)TGC>TGT	p.C608C	TMCO4_uc001bcm.2_Silent_p.C439C|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	608						integral to membrane					0		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)		TGCCATGGCTGCAGATGGGGG	0.672													A	20009614	G	A	20009614	2	1	248	1	0	0	0	0	0	0	0	1	15995	1311	46	2		2	TMCO4	1	20009614	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4199	20009614	229241007	37	122044											
KIF17	57576	broad.mit.edu	37	chr1	21016737	21016737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgacgtcatatgagttgCgcatggcagtgatgtcttcc	12	10	2	3	rs140125368		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:21016737C>T	uc001bdr.3	-	7	1443	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	KIF17_uc009vpx.2_5'UTR|KIF17_uc001bds.3_Missense_Mutation_p.R442H	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	442	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		ATATGAGTTGCGCATGGCAGT	0.642													T	21016737	C	T	21016737	3	4	248	1	0	0	0	0	1	0	0	0	8279	768	27	1	1800	1	KIF17	1	21016737	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1007123	21016737	228233884	38	122045											
EIF4G3	8672	broad.mit.edu	37	chr1	21137375	21137375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactctgaaggtagaagagtCggctaaaggtgatagaagaa	13	5	1	6			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:21137375C>T	uc001bec.2	-	31	4688	c.4432G>A	c.(4432-4434)GAC>AAC	p.D1478N	EIF4G3_uc010odi.1_Missense_Mutation_p.D1082N|EIF4G3_uc010odj.1_Missense_Mutation_p.D1477N|EIF4G3_uc009vpz.2_Missense_Mutation_p.D1198N|EIF4G3_uc001bed.2_Missense_Mutation_p.D1478N|EIF4G3_uc001bef.2_Missense_Mutation_p.D1514N|EIF4G3_uc001bee.2_Missense_Mutation_p.D1484N	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1478	EIF4A-binding (By similarity).|W2.				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			skin(1)	1		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)		GTAGAAGAGTCGGCTAAAGGT	0.323													T	21137375	C	T	21137375	3	4	248	1	0	0	0	0	1	0	0	0	5038	884	31	1	333	1	EIF4G3	1	21137375	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	120638	21137375	228113246	39	122046											
HSPG2	3339	broad.mit.edu	37	chr1	22217111	22217112	+	Frame_Shift_Del	DEL	CT	CT	-													gcctcggacacctctcggaaCtctctggagcctgcatcctc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:22217111_22217112delCT	uc001bfj.2	-	4	360_361	c.320_321delAG	c.(319-321)GAGfs	p.E107fs	HSPG2_uc009vqd.2_Frame_Shift_Del_p.E107fs|HSPG2_uc009vqe.1_Intron	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	107	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CCTCTCGGAACTCTCTGGAGCC	0.584													-	22217112	CT	-	22217111	7	5	248	1	0	1	0	1	0	0	0	0	7430	564	20	0	13230	0	HSPG2	1	22217111	Frame_Shift_Del	DEL	CT	TCGA-FP-A4BE-01A-12D-A24D-08	1079736	22217111	227033510	40	122047											
HNRNPR	10236	broad.mit.edu	37	chr1	23637727	23637727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgtctagcagcttggCgctctttccttttcttgtct	9	12	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:23637727C>T	uc001bgr.3	-	10	1415	c.1256G>A	c.(1255-1257)CGC>CAC	p.R419H	HNRNPR_uc001bgo.2_Missense_Mutation_p.R29H|HNRNPR_uc001bgp.3_Missense_Mutation_p.R422H|HNRNPR_uc009vqk.2_Missense_Mutation_p.R321H|HNRNPR_uc001bgs.3_Missense_Mutation_p.R318H|HNRNPR_uc010odw.1_Missense_Mutation_p.R381H|HNRNPR_uc010odx.1_Missense_Mutation_p.R259H|HNRNPR_uc009vql.2_Missense_Mutation_p.R280H	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	419						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		AGCAGCTTGGCGCTCTTTCCT	0.388													T	23637727	C	T	23637727	3	4	248	1	0	0	0	0	1	0	0	0	7272	768	27	1	653	1	HNRNPR	1	23637727	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1420616	23637727	225612894	41	122048											
TCEB3	6924	broad.mit.edu	37	chr1	24080742	24080742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtacttaaaaacaacatcGattgtaagtcacacgcttct	6	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:24080742G>A	uc001bho.2	+	6	1828	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	590	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			ovary(1)	1		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)		AAACAACATCGATTGTAAGTC	0.458													A	24080742	G	A	24080742	3	1	248	1	0	0	0	0	1	0	0	0	15678	1058	37	1	1790	1	TCEB3	1	24080742	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	443015	24080742	225169879	42	122049											
TCEB3	6924	broad.mit.edu	37	chr1	24086058	24086058	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaacagattctcccgaCgataaactgaggacttgcct	8	11	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:24086058C>T	uc001bho.2	+	11	2452	c.2392C>T	c.(2392-2394)CGA>TGA	p.R798*		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	798					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			ovary(1)	1		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)		ATTCTCCCGACGATAAACTGA	0.483													T	24086058	C	T	24086058	4	4	248	1	0	0	0	0	0	1	0	0	15678	528	19	1	2434	1	TCEB3	1	24086058	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5316	24086058	225164563	43	122050											
MAN1C1	57134	broad.mit.edu	37	chr1	26104629	26104630	+	Frame_Shift_Ins	INS	-	-	G													cttgctgaatgtctctcccgINSgggggctgacctacattgcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:26104628_26104629C>CG	uc001bkm.2	+	8	1620_1621	c.1290_1291C>CG	c.(1288-1293)cccgggfs	p.P430fs	MAN1C1_uc009vry.1_Frame_Shift_Ins_p.P250fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	430					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G431G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGTCTCTCCCGGGGGGCTGAC	0.639													G	26104630	-	G	26104629	7	5	248	1	0	1	1	0	0	0	0	0	9213	1116	39	0	1325	0	MAN1C1	1	26104629	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	2018571	26104629	223145992	44	122051											
SLC30A2	7780	broad.mit.edu	37	chr1	26365783	26365783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcagcacagcctgggcGtctgtattctgagctggggg	15	10	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:26365783G>A	uc001blh.1	-	7	1057	c.840C>T	c.(838-840)GAC>GAT	p.D280D	SLC30A2_uc001blg.1_Silent_p.D329D	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN	solute carrier family 30, member 2 isoform 2	280	Vacuolar (Potential).				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity				0		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)		CAGCCTGGGCGTCTGTATTCT	0.587													A	26365783	G	A	26365783	2	1	248	1	0	0	0	0	0	0	0	1	14555	1136	40	1		1	SLC30A2	1	26365783	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	261154	26365783	222884838	45	122052											
RPS6KA1	6195	broad.mit.edu	37	chr1	26881658	26881658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtttgagatgctgacggGctccctgcccttccagggga	14	12	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:26881658G>A	uc001bmr.1	+	10	936	c.773G>A	c.(772-774)GGC>GAC	p.G258D	RPS6KA1_uc010ofe.1_Missense_Mutation_p.G166D|RPS6KA1_uc010off.1_Missense_Mutation_p.G242D|RPS6KA1_uc001bms.1_Missense_Mutation_p.G267D|RPS6KA1_uc009vsl.1_Missense_Mutation_p.G101D	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	258	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)		ATGCTGACGGGCTCCCTGCCC	0.597													A	26881658	G	A	26881658	3	1	248	1	0	0	0	0	1	0	0	0	13650	1203	42	2	950	2	RPS6KA1	1	26881658	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	515875	26881658	222368963	46	122053											
ARID1A	8289	broad.mit.edu	37	chr1	27023716	27023716	+	Frame_Shift_Del	DEL	G	G	-													cagcagcgcttcggggccatGgggggaggcggcccctccgc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27023716delG	uc001bmv.1	+	1	1195	c.822delG	c.(820-822)ATGfs	p.M274fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.M274fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.M274fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	274					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		TCGGGGCCATGGGGGGAGGCG	0.771			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27023716	G	-	27023716	7	5	248	1	0	1	0	1	0	0	0	0	913	1348	47	0	824	0	ARID1A	1	27023716	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	142058	27023716	222226905	47	122054											
ARID1A	8289	broad.mit.edu	37	chr1	27101350	27101350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccaaccacgaaggctcGtggccttcccatggcacacg	12	15	0	0	rs146171057		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27101350G>A	uc001bmv.1	+	18	5005	c.4632G>A	c.(4630-4632)TCG>TCA	p.S1544S	ARID1A_uc001bmt.1_Silent_p.S1543S|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.S1161S|ARID1A_uc001bmx.1_Silent_p.S390S|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_Translation_Start_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1544					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		ACGAAGGCTCGTGGCCTTCCC	0.642			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27101350	G	A	27101350	2	1	248	1	0	0	0	0	0	0	0	1	913	1132	40	1		1	ARID1A	1	27101350	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	77634	27101350	222149271	48	122055											
PIGV	55650	broad.mit.edu	37	chr1	27120642	27120642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccagatcaccatgcagaAgccttctctcctcctcgcct	5	18	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27120642A>C	uc001bmz.2	+	3	448	c.117A>C	c.(115-117)GAA>GAC	p.E39D	PIGV_uc001bmy.2_Missense_Mutation_p.K3T|PIGV_uc009vso.2_Missense_Mutation_p.E39D|PIGV_uc010ofg.1_Missense_Mutation_p.K3T|PIGV_uc001bna.2_Missense_Mutation_p.E39D	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	39	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		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)		ACCATGCAGAAGCCTTCTCTC	0.408													C	27120642	A	C	27120642	3	2	248	1	0	0	0	0	1	0	0	0	11901	69	3	5	123	5	PIGV	1	27120642	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	19292	27120642	222129979	49	122056											
FAM46B	115572	broad.mit.edu	37	chr1	27332928	27332928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcgatgacacggtgcCgcaggtgctccagggcctcg	17	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27332928C>T	uc010ofj.1	-	2	957	c.785G>A	c.(784-786)CGG>CAG	p.R262Q		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	262										central_nervous_system(1)	1		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)		GACACGGTGCCGCAGGTGCTC	0.672													T	27332928	C	T	27332928	3	4	248	1	0	0	0	0	1	0	0	0	5566	652	23	1	496	1	FAM46B	1	27332928	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	212286	27332928	221917693	50	122057											
SLC9A1	6548	broad.mit.edu	37	chr1	27426906	27426906	+	Frame_Shift_Del	DEL	G	G	-													ctggggctgtcactgggcgcGggggtgaagacatcgtcggt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27426905_27426905CG>C	uc001bnm.3	-	11	2967	c.2341_2341CG>G	c.(2341-2343)gcgfs	p.A781fs	SLC9A1_uc001bnl.3_Frame_Shift_Del_p.A285fs|SLC9A1_uc010ofk.2_Frame_Shift_Del_p.A442fs	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	781					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.A781V(1)		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)	TCACTGGGCGCGGGGGTGAAG	0.642													-	27426906	G	-	27426906	7	5	248	1	0	1	0	1	0	0	0	0	14709	1103	39	0	111	0	SLC9A1	1	27426906	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	93978	27426906	221823715	51	122058											
RCC1	1104	broad.mit.edu	37	chr1	28856410	28856411	+	Frame_Shift_Ins	INS	-	-	C													cgcatagctaaaagaaggtcINSccccccagcagatgccatcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:28856409_28856410T>TC	uc001bqb.2	+	4	430_431	c.31_32T>TC	c.(31-33)tccfs	p.S11fs	RCC1_uc001bqa.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqc.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqe.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqf.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqg.2_Frame_Shift_Ins_p.S11fs	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	11					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			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)		TAAAAGAAGGTCCCCCCCAGCA	0.5													C	28856411	-	C	28856410	7	5	248	1	0	1	1	0	0	0	0	0	13173	855	30	0	34	0	RCC1	1	28856410	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1429504	28856410	220394211	52	122059											
YTHDF2	51441	broad.mit.edu	37	chr1	29070322	29070322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagccaactgcgacacattCgcctagagaacaacgagaat	8	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:29070322C>T	uc001brc.2	+	4	2037	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C	YTHDF2_uc001brd.2_Missense_Mutation_p.R511C|YTHDF2_uc010ofx.1_Missense_Mutation_p.R464C|YTHDF2_uc001bre.2_Missense_Mutation_p.R464C	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	514	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-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)		GCGACACATTCGCCTAGAGAA	0.478													T	29070322	C	T	29070322	3	4	248	1	0	0	0	0	1	0	0	0	17496	884	31	1	1554	1	YTHDF2	1	29070322	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	213912	29070322	220180299	53	122060											
BAI2	576	broad.mit.edu	37	chr1	32198645	32198645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagacagcaaagagggcCtggaagaggacggaacggcg	17	7	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:32198645C>A	uc001btn.2	-	26	3906	c.3552G>T	c.(3550-3552)CAG>CAT	p.Q1184H	BAI2_uc001btm.2_Missense_Mutation_p.Q178H|BAI2_uc001btp.1_Missense_Mutation_p.Q178H|BAI2_uc010ogn.1_Missense_Mutation_p.Q154H|BAI2_uc010ogo.1_Missense_Mutation_p.Q793H|BAI2_uc010ogp.1_Missense_Mutation_p.Q1117H|BAI2_uc010ogq.1_Missense_Mutation_p.Q1151H|BAI2_uc001bto.2_Missense_Mutation_p.Q1184H	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1184	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAAAGAGGGCCTGGAAGAGGA	0.652													A	32198645	C	A	32198645	3	1	248	1	0	0	0	0	1	0	0	0	1299	680	24	5	1237	5	BAI2	1	32198645	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3128323	32198645	217051976	54	122061											
SPOCD1	90853	broad.mit.edu	37	chr1	32262281	32262281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaggctggaagtctgcaCggctccttctgttgctgctc	13	11	2	0	rs146160927		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:32262281C>T	uc001bts.1	-	10	2239	c.2181G>A	c.(2179-2181)CCG>CCA	p.P727P	SPOCD1_uc001btt.2_Silent_p.P33P|SPOCD1_uc001btu.2_Silent_p.P727P|SPOCD1_uc001btv.2_Silent_p.P220P|SPOCD1_uc001btw.1_Silent_p.P71P	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	727	TFIIS central.				transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAAGTCTGCACGGCTCCTTCT	0.527													T	32262281	C	T	32262281	2	4	248	1	0	0	0	0	0	0	0	1	15077	523	19	1		1	SPOCD1	1	32262281	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	63636	32262281	216988340	55	122062											
PTP4A2	8073	broad.mit.edu	37	chr1	32377335	32377335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgcactgcaacacagcaAcctggctcttcacgaaattt	6	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:32377335A>G	uc001bty.1	-	4	1276	c.282T>C	c.(280-282)GGT>GGC	p.G94G	PTP4A2_uc010ogs.1_Silent_p.G63G|PTP4A2_uc001btz.1_Intron	NM_080391	NP_536316	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	94	Tyrosine-protein phosphatase.					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity				0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				CAACACAGCAACCTGGCTCTT	0.403													G	32377335	A	G	32377335	2	3	248	1	0	0	0	0	0	0	0	1	12771	30	2	3		3	PTP4A2	1	32377335	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	115054	32377335	216873286	56	122063											
ZBTB8A	653121	broad.mit.edu	37	chr1	33059218	33059218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcattataagtcaagcaaacGagaagtacgaacatctgatt	7	7	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:33059218G>A	uc001bvn.2	+	3	1171	c.686G>A	c.(685-687)CGA>CAA	p.R229Q	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.R229Q	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCAAGCAAACGAGAAGTACGA	0.423													A	33059218	G	A	33059218	3	1	248	1	0	0	0	0	1	0	0	0	17553	1058	37	1	688	1	ZBTB8A	1	33059218	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	681883	33059218	216191403	57	122064											
HPCA	3208	broad.mit.edu	37	chr1	33359401	33359401	+	Frame_Shift_Del	DEL	A	A	-													aggagttcatccgcggggccAaaagcgacccgtccatcgtg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:33359401delA	uc001bwh.2	+	4	560	c.520delA	c.(520-522)AAAfs	p.K174fs		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	174	EF-hand 4.						actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCGGGGCCAAAAGCGACCC	0.692													-	33359401	A	-	33359401	7	5	248	1	0	1	0	1	0	0	0	0	7329	131	5	0	530	0	HPCA	1	33359401	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	300183	33359401	215891220	58	122065											
PHC2	1912	broad.mit.edu	37	chr1	33820015	33820015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcataccgtgagctggggaCggctggatgttagggctcgt	16	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:33820015C>T	uc001bxg.1	-	8	1596	c.1542G>A	c.(1540-1542)CCG>CCA	p.P514P	PHC2_uc001bxh.1_Silent_p.P486P|PHC2_uc009vuh.1_Silent_p.P515P	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	514					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGCTGGGGACGGCTGGATGT	0.607													T	33820015	C	T	33820015	2	4	248	1	0	0	0	0	0	0	0	1	11817	523	19	1		1	PHC2	1	33820015	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	460614	33820015	215430606	59	122066											
GRIK3	2899	broad.mit.edu	37	chr1	37346337	37346337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcggggtagaggttcaCgtagaaggtgtccttgttgt	16	5	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:37346337C>T	uc001caz.2	-	3	583	c.448G>A	c.(448-450)GTG>ATG	p.V150M	GRIK3_uc001cba.1_Missense_Mutation_p.V150M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	150	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TAGAGGTTCACGTAGAAGGTG	0.602													T	37346337	C	T	37346337	3	4	248	1	0	0	0	0	1	0	0	0	6775	536	19	1	2367	1	GRIK3	1	37346337	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3526322	37346337	211904284	60	122067											
INPP5B	3633	broad.mit.edu	37	chr1	38409479	38409479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcaccttcttccagcGtaaaatcccgcgagactggc	10	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:38409479G>A	uc001ccg.1	-	4	333	c.239C>T	c.(238-240)ACG>ATG	p.T80M	INPP5B_uc009vvk.1_Missense_Mutation_p.T21M|INPP5B_uc001cch.2_Missense_Mutation_p.T21M	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	80					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			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCTTCCAGCGTAAAATCCCG	0.582													A	38409479	G	A	38409479	3	1	248	1	0	0	0	0	1	0	0	0	7755	1145	40	1	2586	1	INPP5B	1	38409479	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1063142	38409479	210841142	61	122068											
POU3F1	5453	broad.mit.edu	37	chr1	38512161	38512161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctaggtgcgggccgccGgcccaatcgccgccgccgcc	14	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:38512161G>A	uc001ccp.1	-	1	290	c.255C>T	c.(253-255)GCC>GCT	p.A85A		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	85	Gly-rich.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCGGGCCGCCGGCCCAATCGC	0.582													A	38512161	G	A	38512161	2	1	248	1	0	0	0	0	0	0	0	1	12274	1103	39	1		1	POU3F1	1	38512161	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	102682	38512161	210738460	62	122069											
MACF1	23499	broad.mit.edu	37	chr1	39827081	39827081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcttggaggccacccGtgagatggtgacccgattca	14	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:39827081G>A	uc010oiu.1	+	13	7954	c.7823G>A	c.(7822-7824)CGT>CAT	p.R2608H	MACF1_uc010ois.1_Missense_Mutation_p.R2106H|MACF1_uc001cda.1_Missense_Mutation_p.R2014H|MACF1_uc001cdc.1_Missense_Mutation_p.R1193H|MACF1_uc001cdb.1_Missense_Mutation_p.R1193H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4173					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GAGGCCACCCGTGAGATGGTG	0.532													A	39827081	G	A	39827081	3	1	248	1	0	0	0	0	1	0	0	0	9144	1145	40	1	12642	1	MACF1	1	39827081	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1314920	39827081	209423540	63	122070											
MACF1	23499	broad.mit.edu	37	chr1	39888117	39888117	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggacttggccagggattAattcagagtgcaggaaaaga	13	5	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:39888117A>G	uc010oiu.1	+	23	11339	c.11208A>G	c.(11206-11208)TTA>TTG	p.L3736L	MACF1_uc010ois.1_Silent_p.L3234L|MACF1_uc001cda.1_Silent_p.L3121L|MACF1_uc001cdc.1_Silent_p.L2300L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5301	Spectrin 6.|LRR 21.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GCCAGGGATTAATTCAGAGTG	0.388													G	39888117	A	G	39888117	2	3	248	1	0	0	0	0	0	0	0	1	9144	359	13	3		3	MACF1	1	39888117	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	61036	39888117	209362504	64	122071											
MACF1	23499	broad.mit.edu	37	chr1	39914383	39914383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagaaacttgacaatttcCtaggagaagtcagagacaaa	9	7	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:39914383C>T	uc010oiu.1	+	49	15666	c.15535C>T	c.(15535-15537)CTA>TTA	p.L5179L	MACF1_uc010ois.1_Silent_p.L4677L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	6743	Spectrin 16.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			TGACAATTTCCTAGGAGAAGT	0.473													T	39914383	C	T	39914383	2	4	248	1	0	0	0	0	0	0	0	1	9144	680	24	4		4	MACF1	1	39914383	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	26266	39914383	209336238	65	122072											
NT5C1A	84618	broad.mit.edu	37	chr1	40129013	40129013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctcgcactttttccGcatcggctgacaagtagagg	11	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:40129013G>A	uc001cdq.1	-	4	527	c.527C>T	c.(526-528)GCG>GTG	p.A176V		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	176					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			ovary(1)	1	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)			CACTTTTTCCGCATCGGCTGA	0.537													A	40129013	G	A	40129013	3	1	248	1	0	0	0	0	1	0	0	0	10685	1087	38	1	591	1	NT5C1A	1	40129013	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	214630	40129013	209121608	66	122073											
RLF	6018	broad.mit.edu	37	chr1	40704193	40704193	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatctgacatttcatcAccaataggcagccatagaga	6	10	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:40704193A>C	uc001cfc.3	+	8	3850	c.3819A>C	c.(3817-3819)TCA>TCC	p.S1273S	RLF_uc001cfd.3_Silent_p.S964S	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1273					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			ovary(2)|pancreas(1)	3	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)			ACATTTCATCACCAATAGGCA	0.378													C	40704193	A	C	40704193	2	2	248	1	0	0	0	0	0	0	0	1	13389	146	6	5		5	RLF	1	40704193	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	575180	40704193	208546428	67	122074											
COL9A2	1298	broad.mit.edu	37	chr1	40769618	40769618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctcgcctttctctccGgggaggccggccacccctgg	11	18	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:40769618G>A	uc001cfh.1	-	26	1420	c.1350C>T	c.(1348-1350)CCC>CCT	p.P450P	COL9A2_uc001cfi.1_Silent_p.P269P	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	450	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	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)			CTTTCTCTCCGGGGAGGCCGG	0.736													A	40769618	G	A	40769618	2	1	248	1	0	0	0	0	0	0	0	1	3708	1103	39	1		1	COL9A2	1	40769618	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	65425	40769618	208481003	68	122075											
CCDC30	728621	broad.mit.edu	37	chr1	43110402	43110402	+	Frame_Shift_Del	DEL	A	A	-													agaaaataagcaattacaggAaaatagtcttcgtctcacac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43110401_43110401GA>G	uc009vwk.1	+	12	1923	c.1813_1813GA>G	c.(1813-1815)gaafs	p.E605fs	CCDC30_uc001chm.2_Frame_Shift_Del_p.E303fs|CCDC30_uc001chn.2_Frame_Shift_Del_p.E394fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	605										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCAATTACAGGAAAATAGTCT	0.373													-	43110402	A	-	43110402	7	5	248	1	0	1	0	1	0	0	0	0	2805	246	9	0	1860	0	CCDC30	1	43110402	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	2340784	43110402	206140219	69	122076											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43634636	43634636	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtatttcctaagtgctcGcagttgcttagctttttcag	8	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43634636G>A	uc001cin.2	-	5	708	c.511C>T	c.(511-513)CGA>TGA	p.R171*	EBNA1BP2_uc001cio.2_Nonsense_Mutation_p.R226*|EBNA1BP2_uc001cim.2_Nonsense_Mutation_p.R66*|EBNA1BP2_uc010ojx.1_Nonsense_Mutation_p.R226*	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	171					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTAAGTGCTCGCAGTTGCTTA	0.468													A	43634636	G	A	43634636	4	1	248	1	0	0	0	0	0	1	0	0	4885	1095	38	1	429	1	EBNA1BP2	1	43634636	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	524234	43634636	205615985	70	122077											
WDR65	149465	broad.mit.edu	37	chr1	43652399	43652399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtggacccgcagagcAatgatccaagtcagtctgac	10	12	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43652399A>G	uc001cip.1	+	6	1112	c.991A>G	c.(991-993)AAT>GAT	p.N331D	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.N320D|WDR65_uc001ciq.1_Missense_Mutation_p.N331D	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	331										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCGCAGAGCAATGATCCAAG	0.478													G	43652399	A	G	43652399	3	3	248	1	0	0	0	0	1	0	0	0	17313	130	5	3	1009	3	WDR65	1	43652399	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	17763	43652399	205598222	71	122078											
HYI	81888	broad.mit.edu	37	chr1	43917505	43917505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcttcctaccttctgTaagatggctgccgctgtaag	11	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43917505T>C	uc001cjo.2	-	5	689	c.519A>G	c.(517-519)TTA>TTG	p.L173L	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Silent_p.L100L|HYI_uc001cjn.2_Silent_p.L173L|HYI_uc001cjp.2_Silent_p.L100L	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	173							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTACCTTCTGTAAGATGGCTG	0.567													C	43917505	T	C	43917505	2	2	248	1	0	0	0	0	0	0	0	1	7468	1635	57	3		3	HYI	1	43917505	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	265106	43917505	205333116	72	122079											
PTPRF	5792	broad.mit.edu	37	chr1	44083122	44083122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccattctctgcagtccatcGaccctggacagcagttcacg	8	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44083122G>A	uc001cjr.2	+	24	4418	c.4078G>A	c.(4078-4080)GAC>AAC	p.D1360N	PTPRF_uc001cjs.2_Missense_Mutation_p.D1351N|PTPRF_uc001cju.2_Missense_Mutation_p.D749N|PTPRF_uc009vwt.2_Missense_Mutation_p.D920N|PTPRF_uc001cjv.2_Missense_Mutation_p.D831N|PTPRF_uc001cjw.2_Missense_Mutation_p.D586N	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1360	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGTCCATCGACCCTGGACA	0.567													A	44083122	G	A	44083122	3	1	248	1	0	0	0	0	1	0	0	0	12801	1058	37	1	4164	1	PTPRF	1	44083122	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	165617	44083122	205167499	73	122080											
ST3GAL3	6487	broad.mit.edu	37	chr1	44386553	44386553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacatgagcacacccaacGcacccctgcactactatgag	7	15	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44386553G>A	uc001ckc.2	+	11	1168	c.991G>A	c.(991-993)GCA>ACA	p.A331T	ST3GAL3_uc001cjz.2_Missense_Mutation_p.A346T|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.A400T|ST3GAL3_uc001ckd.2_Missense_Mutation_p.A385T|ST3GAL3_uc001cke.2_Missense_Mutation_p.A315T|ST3GAL3_uc001ckf.2_Missense_Mutation_p.A369T|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.A301T|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.A300T|ST3GAL3_uc009vwy.2_Missense_Mutation_p.A237T|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.A105T|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.A118T|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	331	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CACACCCAACGCACCCCTGCA	0.597													A	44386553	G	A	44386553	3	1	248	1	0	0	0	0	1	0	0	0	15215	1087	38	1	1240	1	ST3GAL3	1	44386553	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	303431	44386553	204864068	74	122081											
IPO13	9670	broad.mit.edu	37	chr1	44432283	44432283	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatttgttcctgtgtgaaCgattggatgtcaaagctgtg	12	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44432283C>T	uc001ckx.2	+	16	3229	c.2434C>T	c.(2434-2436)CGA>TGA	p.R812*	IPO13_uc001cky.2_Nonsense_Mutation_p.R30*	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	812	HEAT 14.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTGTGTGAACGATTGGATGT	0.582													T	44432283	C	T	44432283	4	4	248	1	0	0	0	0	0	1	0	0	7794	528	19	1	2496	1	IPO13	1	44432283	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	45730	44432283	204818338	75	122082											
ATP6V0B	533	broad.mit.edu	37	chr1	44442832	44442832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgtaaagattctcatcGtggagatctttggcagcgcc	10	9	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44442832G>A	uc001cld.2	+	7	646	c.535G>A	c.(535-537)GTG>ATG	p.V179M	ATP6V0B_uc001clc.2_Missense_Mutation_p.V179M|ATP6V0B_uc001cle.2_Missense_Mutation_p.V132M|ATP6V0B_uc001clf.2_Missense_Mutation_p.V132M|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	179	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GATTCTCATCGTGGAGATCTT	0.567													A	44442832	G	A	44442832	3	1	248	1	0	0	0	0	1	0	0	0	1171	1145	40	1	561	1	ATP6V0B	1	44442832	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	10549	44442832	204807789	76	122083											
SLC6A9	6536	broad.mit.edu	37	chr1	44466866	44466866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggatgcccagcaggaaGccagccacagccacgcccaa	13	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44466866G>A	uc001cll.2	-	10	1716	c.1524C>T	c.(1522-1524)GGC>GGT	p.G508G	SLC6A9_uc009vxe.2_Silent_p.G364G|SLC6A9_uc010okm.1_Silent_p.G435G|SLC6A9_uc001clm.2_Silent_p.G454G|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.G439G|SLC6A9_uc001cln.2_Silent_p.G435G|SLC6A9_uc010oko.1_Silent_p.G324G|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	508	Helical; Name=9; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGCAGGAAGCCAGCCACAG	0.622													A	44466866	G	A	44466866	2	1	248	1	0	0	0	0	0	0	0	1	14691	958	34	2		2	SLC6A9	1	44466866	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	24034	44466866	204783755	77	122084											
HPDL	84842	broad.mit.edu	37	chr1	45793666	45793666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggccagttcctggcTccccctggggcatactacca	12	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:45793666T>C	uc001cne.2	+	1	1122	c.846T>C	c.(844-846)GCT>GCC	p.A282A		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	282					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AGTTCCTGGCTCCCCCTGGGG	0.637													C	45793666	T	C	45793666	2	2	248	1	0	0	0	0	0	0	0	1	7333	1538	54	3		3	HPDL	1	45793666	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1326800	45793666	203456955	78	122085											
TMEM69	51249	broad.mit.edu	37	chr1	46159219	46159219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccatattagcttttactcAgatggcttatggagccagtt	8	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:46159219A>G	uc001cor.1	+	3	582	c.386A>G	c.(385-387)CAG>CGG	p.Q129R		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	129	Helical; (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCTTTTACTCAGATGGCTTAT	0.443													G	46159219	A	G	46159219	3	3	248	1	0	0	0	0	1	0	0	0	16195	188	7	3	392	3	TMEM69	1	46159219	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	365553	46159219	203091402	79	122086											
ELAVL4	1996	broad.mit.edu	37	chr1	50659494	50659494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctaacctctatgttagcGgccttcccaaaaccatgacc	6	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:50659494G>A	uc001csb.2	+	4	680	c.412G>A	c.(412-414)GGC>AGC	p.G138S	ELAVL4_uc001cry.3_Missense_Mutation_p.G141S|ELAVL4_uc001crz.3_Missense_Mutation_p.G138S|ELAVL4_uc001csa.3_Missense_Mutation_p.G155S|ELAVL4_uc001csc.3_Missense_Mutation_p.G138S|ELAVL4_uc009vyu.2_Missense_Mutation_p.G143S|ELAVL4_uc010omz.1_Missense_Mutation_p.G143S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	138	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						CTATGTTAGCGGCCTTCCCAA	0.488													A	50659494	G	A	50659494	3	1	248	1	0	0	0	0	1	0	0	0	5052	1116	39	1	525	1	ELAVL4	1	50659494	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4500275	50659494	198591127	80	122087											
NRD1	4898	broad.mit.edu	37	chr1	52275032	52275032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaagatctggatttaattCgaaattactattccacagtt	6	6	1	2	rs149040151	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:52275032C>T	uc001ctc.3	-	19	2471	c.2149G>A	c.(2149-2151)GAA>AAA	p.E717K	NRD1_uc009vzb.2_Missense_Mutation_p.E412K|NRD1_uc001ctd.3_Missense_Mutation_p.E649K|NRD1_uc001cte.2_Missense_Mutation_p.E585K|NRD1_uc001ctf.2_Missense_Mutation_p.E649K|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	648					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				0						GGATTTAATTCGAAATTACTA	0.313													T	52275032	C	T	52275032	3	4	248	1	0	0	0	0	1	0	0	0	10645	893	31	1	1570	1	NRD1	1	52275032	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1615538	52275032	196975589	81	122088											
PODN	127435	broad.mit.edu	37	chr1	53544191	53544191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccatccgcagcctggagTacctgctgctgcacagcaac	9	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:53544191T>C	uc001cuv.2	+	8	1160	c.1153T>C	c.(1153-1155)TAC>CAC	p.Y385H	PODN_uc001cuw.2_Missense_Mutation_p.Y366H|PODN_uc010onr.1_Missense_Mutation_p.Y366H|PODN_uc010ons.1_Missense_Mutation_p.Y243H	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	337	LRR 11.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						CAGCCTGGAGTACCTGCTGCT	0.657													C	53544191	T	C	53544191	3	2	248	1	0	0	0	0	1	0	0	0	12178	1638	57	3	1183	3	PODN	1	53544191	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1269159	53544191	195706430	82	122089											
CDCP2	200008	broad.mit.edu	37	chr1	54605384	54605384	+	Frame_Shift_Del	DEL	C	C	-													agactgaggctgcaaagcctCcccttcgccctcagtggacc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:54605384delC	uc001cwv.1	-	4	2007	c.1159delG	c.(1159-1161)GAGfs	p.E387fs		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2 precursor	387						extracellular region				ovary(1)	1						TGCAAAGCCTCCCCTTCGCCC	0.612													-	54605384	C	-	54605384	7	5	248	1	0	1	0	1	0	0	0	0	3094	864	30	0	194	0	CDCP2	1	54605384	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	1061193	54605384	194645237	83	122090											
PCSK9	255738	broad.mit.edu	37	chr1	55529119	55529119	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcccacgtcctgggggcCtacgccgtagacaacacgtg	11	16	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:55529119C>A	uc001cyf.1	+	12	2232	c.1941C>A	c.(1939-1941)GCC>GCA	p.A647A	PCSK9_uc010oom.1_RNA	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	647					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			ovary(2)|central_nervous_system(1)|skin(1)	4						TCCTGGGGGCCTACGCCGTAG	0.662													A	55529119	C	A	55529119	2	1	248	1	0	0	0	0	0	0	0	1	11606	668	24	5		5	PCSK9	1	55529119	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	923735	55529119	193721502	84	122091											
USP24	23358	broad.mit.edu	37	chr1	55604663	55604663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagcagcaatctctcaAttattacaagtttagtagat	6	8	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:55604663A>C	uc001cyg.3	-	22	2291	c.2291T>G	c.(2290-2292)ATT>AGT	p.I764S		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	924					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						CAATCTCTCAATTATTACAAG	0.219													C	55604663	A	C	55604663	3	2	248	1	0	0	0	0	1	0	0	0	17052	101	4	5	5267	5	USP24	1	55604663	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	75544	55604663	193645958	85	122092											
C8B	732	broad.mit.edu	37	chr1	57420486	57420486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattgcaaagaagtctgcGgtttacacaccttcctagaa	7	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:57420486G>A	uc001cyp.2	-	4	473	c.406C>T	c.(406-408)CGC>TGC	p.R136C	C8B_uc010oon.1_Missense_Mutation_p.R74C|C8B_uc010ooo.1_Missense_Mutation_p.R84C	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	136	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						AGAAGTCTGCGGTTTACACAC	0.423													A	57420486	G	A	57420486	3	1	248	1	0	0	0	0	1	0	0	0	2417	1116	39	1	1405	1	C8B	1	57420486	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1815823	57420486	191830135	86	122093											
DOCK7	85440	broad.mit.edu	37	chr1	63119694	63119694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaagagttctgcagtccCgaggactataaacaacttca	7	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:63119694C>T	uc001daq.2	-	3	315	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	DOCK7_uc001dan.2_5'Flank|DOCK7_uc001dao.2_5'Flank|DOCK7_uc001dap.2_Missense_Mutation_p.R94Q|DOCK7_uc009wah.1_Missense_Mutation_p.R94Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	94					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			ovary(2)	2						TCTGCAGTCCCGAGGACTATA	0.403													T	63119694	C	T	63119694	3	4	248	1	0	0	0	0	1	0	0	0	4692	652	23	1	6236	1	DOCK7	1	63119694	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5699208	63119694	186130927	87	122094											
JAK1	3716	broad.mit.edu	37	chr1	65303751	65303751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcttgctgccaagtcccGgtgaacgtattgccgagaac	10	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:65303751G>A	uc001dbu.1	-	22	3253	c.3004C>T	c.(3004-3006)CGG>TGG	p.R1002W	JAK1_uc009wam.1_Missense_Mutation_p.R990W|JAK1_uc009wal.1_Missense_Mutation_p.R179W	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	1002	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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GCCAAGTCCCGGTGAACGTAT	0.408			Mis		ALL								A	65303751	G	A	65303751	3	1	248	1	0	0	0	0	1	0	0	0	7937	1115	39	1	476	1	JAK1	1	65303751	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2184057	65303751	183946870	88	122095											
LRRC7	57554	broad.mit.edu	37	chr1	70505179	70505179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagtgaaagctcaggcGggaagttttccggttaaaaa	12	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:70505179G>A	uc001dep.2	+	19	3588	c.3558G>A	c.(3556-3558)GCG>GCA	p.A1186A	LRRC7_uc009wbg.2_Silent_p.A470A|LRRC7_uc001deq.2_Silent_p.A427A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1186						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AAGCTCAGGCGGGAAGTTTTC	0.488													A	70505179	G	A	70505179	2	1	248	1	0	0	0	0	0	0	0	1	9020	1103	39	1		1	LRRC7	1	70505179	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5201428	70505179	178745442	89	122096											
FAM73A	374986	broad.mit.edu	37	chr1	78340642	78340643	+	Frame_Shift_Ins	INS	-	-	T													actcattcgccgcactgagcINSttttaatggcctatcttgaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:78340642_78340643insT	uc001dhx.2	+	16	1824_1825	c.1792_1793insT	c.(1792-1794)CTTfs	p.L598fs	FAM73A_uc010ork.1_Frame_Shift_Ins_p.L599fs|FAM73A_uc010orl.1_Frame_Shift_Ins_p.L561fs	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	598						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		CCGCACTGAGCTTTTAATGGCC	0.431													T	78340643	-	T	78340642	7	5	248	1	0	1	1	0	0	0	0	0	5617	797	28	0	1854	0	FAM73A	1	78340642	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	7835463	78340642	170909979	90	122097	627	2									
FAM73A	374986	broad.mit.edu	37	chr1	78340643	78340644	+	Frame_Shift_Ins	INS	-	-	T													ctcattcgccgcactgagctINStttaatggcctatcttgaag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:78340642_78340643C>CT	uc010ork.2	+	15	1827_1828	c.1795_1796C>CT	c.(1795-1797)cttfs	p.L599fs	FAM73A_uc001dhx.3_Frame_Shift_Ins_p.L598fs|FAM73A_uc010orl.2_Frame_Shift_Ins_p.L561fs	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	598						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCGCACTGAGCTTTTAATGGCC	0.431													T	78340644	-	T	78340643	7	5	248	1	0	1	1	0	0	0	0	0	5617	1609	56	0	1855	0	FAM73A	1	78340643	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	78340643	170909978	91	122098	627	2									
TTLL7	79739	broad.mit.edu	37	chr1	84408246	84408246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcacacgatgtaaccagaAtataaattcgtaagtcaaac	6	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:84408246A>G	uc001djc.2	-	7	1019	c.623T>C	c.(622-624)ATT>ACT	p.I208T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	208	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGTAACCAGAATATAAATTCG	0.368													G	84408246	A	G	84408246	3	3	248	1	0	0	0	0	1	0	0	0	16729	101	4	3	2100	3	TTLL7	1	84408246	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	6067603	84408246	164842375	92	122099											
CLCA4	22802	broad.mit.edu	37	chr1	87045205	87045205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacagaccttgatgccaCagttcatgaggataagatta	8	8	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:87045205C>T	uc009wcs.2	+	13	2335	c.2291C>T	c.(2290-2292)ACA>ATA	p.T764I	CLCA4_uc009wct.2_Missense_Mutation_p.T527I|CLCA4_uc009wcu.2_Missense_Mutation_p.T584I	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	764						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTGATGCCACAGTTCATGAG	0.438													T	87045205	C	T	87045205	3	4	248	1	0	0	0	0	1	0	0	0	3459	478	17	4	2341	4	CLCA4	1	87045205	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2636959	87045205	162205416	93	122100											
GBP1	2633	broad.mit.edu	37	chr1	89525080	89525080	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaggaggacggccagggcGaagatccaggagtcattctg	15	10	3	1	rs150201512	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:89525080G>A	uc001dmx.2	-	4	568	c.348C>T	c.(346-348)TTC>TTT	p.F116F		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	116					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CGGCCAGGGCGAAGATCCAGG	0.498													A	89525080	G	A	89525080	2	1	248	1	0	0	0	0	0	0	0	1	6273	1049	37	1		1	GBP1	1	89525080	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2479875	89525080	159725541	94	122101											
HFM1	164045	broad.mit.edu	37	chr1	91739282	91739282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttacctttgtcttgataTtcagatggttcttgtctaac	6	7	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:91739282T>G	uc001doa.3	-	34	3859	c.3759A>C	c.(3757-3759)GAA>GAC	p.E1253D	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.E932D|HFM1_uc001dob.3_Missense_Mutation_p.E441D|HFM1_uc010osv.1_Missense_Mutation_p.E937D	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1253							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		TGTCTTGATATTCAGATGGTT	0.338													G	91739282	T	G	91739282	3	3	248	1	0	0	0	0	1	0	0	0	7083	1490	52	5	572	5	HFM1	1	91739282	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	2214202	91739282	157511339	95	122102											
GFI1	2672	broad.mit.edu	37	chr1	92941611	92941611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcccatgctgcgtctccCggtgccttcggaggtccacc	12	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:92941611C>T	uc001dou.3	-	7	1408	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q	GFI1_uc001dov.3_Missense_Mutation_p.R415Q|GFI1_uc001dow.3_Missense_Mutation_p.R415Q	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	415	C2H2-type 6.				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			large_intestine(1)	1		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)		CTGCGTCTCCCGGTGCCTTCG	0.607													T	92941611	C	T	92941611	3	4	248	1	0	0	0	0	1	0	0	0	6339	652	23	1	28	1	GFI1	1	92941611	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1202329	92941611	156309010	96	122103											
ABCA4	24	broad.mit.edu	37	chr1	94586671	94586671	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaaggacataaacgccGttaagagcgcctctggctcc	10	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:94586671G>A	uc001dqh.2	-	1	35	c.-69C>T	c.(-71--67)AACGG>AATGG		ABCA4_uc010otn.1_Translation_Start_Site	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		CATAAACGCCGTTAAGAGCGC	0.498													A	94586671	G	A	94586671	1	1	248	1	0	0	0	0	0	0	0	0	34	1160	40	1		1	ABCA4	1	94586671	Translation_Start_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1645060	94586671	154663950	97	122104											
ABCD3	5825	broad.mit.edu	37	chr1	94964360	94964360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcctctttttggaggaCgtctaactaaacctgaaaga	9	8	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:94964360C>T	uc001dqn.3	+	18	1588	c.1486C>T	c.(1486-1488)CGT>TGT	p.R496C	ABCD3_uc010oto.1_Missense_Mutation_p.R520C|ABCD3_uc010otp.1_Missense_Mutation_p.R423C|ABCD3_uc009wdr.2_Missense_Mutation_p.R386C|ABCD3_uc001dqo.3_Missense_Mutation_p.R184C	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	496	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			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTGGAGGACGTCTAACTAA	0.318													T	94964360	C	T	94964360	3	4	248	1	0	0	0	0	1	0	0	0	62	536	19	1	1587	1	ABCD3	1	94964360	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	377689	94964360	154286261	98	122105											
DPYD	1806	broad.mit.edu	37	chr1	97981499	97981499	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaagctccatattgtgacTgcaaaatacaaaccaatact	6	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:97981499T>C	uc001drv.2	-	13	1662	c.1525_splice	c.e13-1	p.S509_splice		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1						'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			ovary(3)|skin(3)|breast(2)	8		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)	ATATTGTGACTGCAAAATACA	0.363													C	97981499	T	C	97981499	5	2	248	1	0	0	0	0	0	0	1	0	4745	1594	55	3	1598	3	DPYD	1	97981499	Splice_Site	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3017139	97981499	151269122	99	122106											
S1PR1	1901	broad.mit.edu	37	chr1	101705311	101705311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctggcgctgctcaagacCgtaattatcgtcctgagcgt	11	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:101705311C>T	uc001dud.2	+	2	1285	c.771C>T	c.(769-771)ACC>ACT	p.T257T	S1PR1_uc009weg.2_Silent_p.T257T	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	257	Helical; Name=6; (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						TGCTCAAGACCGTAATTATCG	0.587													T	101705311	C	T	101705311	2	4	248	1	0	0	0	0	0	0	0	1	13793	639	23	1		1	S1PR1	1	101705311	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3723812	101705311	147545310	100	122107											
COL11A1	1301	broad.mit.edu	37	chr1	103428218	103428218	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttgtacctttgcaccTtcttttcctgcagcaccagg	8	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:103428218T>A	uc001dul.2	-	39	3333	c.3015A>T	c.(3013-3015)GAA>GAT	p.E1005D	COL11A1_uc001duk.2_Missense_Mutation_p.E201D|COL11A1_uc001dum.2_Missense_Mutation_p.E1017D|COL11A1_uc001dun.2_Missense_Mutation_p.E966D|COL11A1_uc009weh.2_Missense_Mutation_p.E889D	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CCTTTGCACCTTCTTTTCCTG	0.473													A	103428218	T	A	103428218	3	1	248	1	0	0	0	0	1	0	0	0	3667	1606	56	5	2521	5	COL11A1	1	103428218	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1722907	103428218	145822403	101	122108											
NTNG1	22854	broad.mit.edu	37	chr1	107937908	107937908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggccgaccttggagtccAggctcctatctccccatccc	9	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:107937908A>G	uc001dvh.3	+	4	1738	c.1020A>G	c.(1018-1020)CCA>CCG	p.P340P	NTNG1_uc001dvf.3_Silent_p.P340P|NTNG1_uc010out.1_Silent_p.P340P|NTNG1_uc001dvc.3_Silent_p.P340P|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R13G|NTNG1_uc001dvd.1_Silent_p.P340P	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	340	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CTTGGAGTCCAGGCTCCTATC	0.473													G	107937908	A	G	107937908	2	3	248	1	0	0	0	0	0	0	0	1	10704	175	7	3		3	NTNG1	1	107937908	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	4509690	107937908	141312713	102	122109											
AKNAD1	254268	broad.mit.edu	37	chr1	109377642	109377642	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcactcccacctgagcctcGaggcccagaagggtggccgg	13	16	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:109377642G>A	uc001dwa.2	-	8	1842	c.1573C>T	c.(1573-1575)CGA>TGA	p.R525*	AKNAD1_uc010ovb.1_Nonsense_Mutation_p.R232*|AKNAD1_uc001dwb.2_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	525										ovary(3)	3						CCTGAGCCTCGAGGCCCAGAA	0.622													A	109377642	G	A	109377642	4	1	248	1	0	0	0	0	0	1	0	0	464	1066	37	1	973	1	AKNAD1	1	109377642	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1439734	109377642	139872979	103	122110											
CELSR2	1952	broad.mit.edu	37	chr1	109801082	109801082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcgtgaccgcccagtgCgcgctgcgtgtgaccatcat	12	15	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:109801082C>T	uc001dxa.3	+	2	3400	c.3339C>T	c.(3337-3339)TGC>TGT	p.C1113C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1113	Cadherin 9.|Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		CCGCCCAGTGCGCGCTGCGTG	0.622													T	109801082	C	T	109801082	2	4	248	1	0	0	0	0	0	0	0	1	3222	776	27	1		1	CELSR2	1	109801082	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	423440	109801082	139449539	104	122111											
CELSR2	1952	broad.mit.edu	37	chr1	109810236	109810236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacctcttcaactgcacgtCcatcaccttctcagaactga	4	15	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:109810236C>T	uc001dxa.3	+	16	6141	c.6080C>T	c.(6079-6081)TCC>TTC	p.S2027F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2027	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		AACTGCACGTCCATCACCTTC	0.587													T	109810236	C	T	109810236	3	4	248	1	0	0	0	0	1	0	0	0	3222	855	30	4	6142	4	CELSR2	1	109810236	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	9154	109810236	139440385	105	122112											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031653	110031653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtccaggttgtagcagCggtggctgctcccagcagca	13	13	1	0	rs145282300	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110031653C>T	uc001dxr.2	+	7	983	c.968C>T	c.(967-969)GCG>GTG	p.A323V	ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	323										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTTGTAGCAGCGGTGGCTGCT	0.612													T	110031653	C	T	110031653	3	4	248	1	0	0	0	0	1	0	0	0	1217	768	27	1	994	1	ATXN7L2	1	110031653	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	221417	110031653	139218968	106	122113											
AMIGO1	57463	broad.mit.edu	37	chr1	110050334	110050334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggcttctctacaccccGgcaccagcagcggcaagggg	14	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110050334G>A	uc001dxx.3	-	2	1583	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	401	Cytoplasmic (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		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)		TCTACACCCCGGCACCAGCAG	0.547													A	110050334	G	A	110050334	3	1	248	1	0	0	0	0	1	0	0	0	575	1115	39	1	284	1	AMIGO1	1	110050334	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	18681	110050334	139200287	107	122114											
GNAI3	2773	broad.mit.edu	37	chr1	110116577	110116577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatataaagtagttgtctAcagcaatactatacagtcca	5	8	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110116577A>G	uc001dxz.2	+	3	378	c.221A>G	c.(220-222)TAC>TGC	p.Y74C		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	74					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GTAGTTGTCTACAGCAATACT	0.388													G	110116577	A	G	110116577	3	3	248	1	0	0	0	0	1	0	0	0	6506	391	14	3	231	3	GNAI3	1	110116577	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	66243	110116577	139134044	108	122115											
AMPD2	271	broad.mit.edu	37	chr1	110170832	110170832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtgaacagacgctgcGggaggtctttgagagcatga	17	8	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110170832G>A	uc009wfh.1	+	11	1912	c.1370G>A	c.(1369-1371)CGG>CAG	p.R457Q	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R376Q|AMPD2_uc001dyc.1_Missense_Mutation_p.R457Q|AMPD2_uc010ovr.1_Missense_Mutation_p.R382Q|AMPD2_uc010ovs.1_Missense_Mutation_p.R339Q|AMPD2_uc001dyd.1_Missense_Mutation_p.R338Q|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	457					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		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)		CAGACGCTGCGGGAGGTCTTT	0.602													A	110170832	G	A	110170832	3	1	248	1	0	0	0	0	1	0	0	0	586	1116	39	1	1449	1	AMPD2	1	110170832	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	54255	110170832	139079789	109	122116											
GSTM4	2948	broad.mit.edu	37	chr1	110200445	110200445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacattttggagaaccaggCtatggacgtctccaatcagc	11	10	2	1	rs142265412	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110200445C>A	uc001dyf.2	+	5	625	c.311C>A	c.(310-312)GCT>GAT	p.A104D	GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Intron|GSTM4_uc001dyh.2_Missense_Mutation_p.A104D|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	104	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		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)	GAGAACCAGGCTATGGACGTC	0.537													A	110200445	C	A	110200445	3	1	248	1	0	0	0	0	1	0	0	0	6840	797	28	5	329	5	GSTM4	1	110200445	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	29613	110200445	139050176	110	122117											
GSTM5	2949	broad.mit.edu	37	chr1	110259968	110259968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgccctcagggtttgaagAagatctctgcctacatgaag	10	12	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110259968A>G	uc001dyn.2	+	8	648	c.577A>G	c.(577-579)AAG>GAG	p.K193E	GSTM5_uc010ovu.1_3'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	193	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		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)	GGGTTTGAAGAAGATCTCTGC	0.547													G	110259968	A	G	110259968	3	3	248	1	0	0	0	0	1	0	0	0	6841	247	9	3	607	3	GSTM5	1	110259968	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	59523	110259968	138990653	111	122118											
KCNA3	3738	broad.mit.edu	37	chr1	111216190	111216190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggcaaagtagaccgcGctggagaaaaggatgacccc	13	12	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:111216190G>A	uc001dzv.1	-	1	1466	c.1242C>T	c.(1240-1242)AGC>AGT	p.S414S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	414	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		AGTAGACCGCGCTGGAGAAAA	0.572													A	111216190	G	A	111216190	2	1	248	1	0	0	0	0	0	0	0	1	8004	1078	38	1		1	KCNA3	1	111216190	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	956222	111216190	138034431	112	122119											
SLC16A1	6566	broad.mit.edu	37	chr1	113456694	113456694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcgataattgatgcccAtgccaatgaagagatagata	9	6	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:113456694A>G	uc001ecx.2	-	5	2154	c.1322T>C	c.(1321-1323)ATG>ACG	p.M441T	SLC16A1_uc001ecy.2_Missense_Mutation_p.M441T	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	441	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATTGATGCCCATGCCAATGAA	0.413													G	113456694	A	G	113456694	3	3	248	1	0	0	0	0	1	0	0	0	14402	217	8	3	184	3	SLC16A1	1	113456694	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2240504	113456694	135793927	113	122120											
DENND2C	163259	broad.mit.edu	37	chr1	115130548	115130548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacctgacaaatgcttcGgacaccagagagttgagtgt	10	8	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:115130548G>A	uc001efd.1	-	19	3159	c.2457C>T	c.(2455-2457)TCC>TCT	p.S819S	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.S762S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	819	dDENN.									skin(3)	3	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)		CAAATGCTTCGGACACCAGAG	0.423													A	115130548	G	A	115130548	2	1	248	1	0	0	0	0	0	0	0	1	4430	1103	39	1		1	DENND2C	1	115130548	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1673854	115130548	134120073	114	122121											
CD101	9398	broad.mit.edu	37	chr1	117554380	117554380	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttatattggtccctgggccCttgtatacagagcggtttgc	11	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:117554380C>A	uc010oxb.1	+	3	691	c.633C>A	c.(631-633)CCC>CCA	p.P211P	CD101_uc009whd.2_Silent_p.P211P|CD101_uc010oxc.1_Silent_p.P211P|CD101_uc010oxd.1_Silent_p.P149P	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	211	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TCCCTGGGCCCTTGTATACAG	0.507													A	117554380	C	A	117554380	2	1	248	1	0	0	0	0	0	0	0	1	2962	668	24	5		5	CD101	1	117554380	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2423832	117554380	131696241	115	122122											
MAN1A2	10905	broad.mit.edu	37	chr1	118039461	118039461	+	Frame_Shift_Del	DEL	A	A	-													atggaagaatgggcacttggAaaaaaagatggggcatttgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:118039460_118039460GA>G	uc001ehd.1	+	9	2081	c.1360_1360GA>G	c.(1360-1362)gaafs	p.E454fs	MAN1A2_uc009whg.1_Frame_Shift_Del_p.E244fs	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	454					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			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)		TGGGCACTTGGAAAAAAAGAT	0.413													-	118039461	A	-	118039461	7	5	248	1	0	1	0	1	0	0	0	0	9211	246	9	0	1399	0	MAN1A2	1	118039461	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	485081	118039461	131211160	116	122123											
SPAG17	200162	broad.mit.edu	37	chr1	118567980	118567980	+	Frame_Shift_Del	DEL	G	G	-													ctcatagtgcttcaccctctGggggtagctctgacggacca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:118567980delG	uc001ehk.2	-	27	3858	c.3790delC	c.(3790-3792)CAGfs	p.Q1264fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1264						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TTCACCCTCTGGGGGTAGCTC	0.458													-	118567980	G	-	118567980	7	5	248	1	0	1	0	1	0	0	0	0	14979	1357	47	0	2969	0	SPAG17	1	118567980	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	528519	118567980	130682641	117	122124											
HAO2	51179	broad.mit.edu	37	chr1	119934795	119934795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgaagtctacctggatggCggggtccgaactggcaatga	14	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:119934795C>T	uc001ehq.1	+	7	1186	c.834C>T	c.(832-834)GGC>GGT	p.G278G	HAO2_uc001ehr.1_Silent_p.G278G	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	278	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	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)		ACCTGGATGGCGGGGTCCGAA	0.507													T	119934795	C	T	119934795	2	4	248	1	0	0	0	0	0	0	0	1	6952	755	27	1		1	HAO2	1	119934795	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1366815	119934795	129315826	118	122125											
NBPF7	343505	broad.mit.edu	37	chr1	120386967	120386967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagccggccatttgagtTacaagaaatttctgcttcat	9	8	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:120386967T>C	uc010oxk.1	-	1	813	c.192A>G	c.(190-192)GTA>GTG	p.V64V		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	64						cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CCATTTGAGTTACAAGAAATT	0.423											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	120386967	T	C	120386967	2	2	248	1	0	0	0	0	0	0	0	1	10198	1741	61	3		3	NBPF7	1	120386967	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	452172	120386967	128863654	119	122126											
GJA5	2702	broad.mit.edu	37	chr1	147231086	147231086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgtacaccagagagggCgtggagacgaagatgatctg	14	9	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:147231086C>T	uc001eps.1	-	2	402	c.261G>A	c.(259-261)ACG>ACA	p.T87T	GJA5_uc001ept.1_Silent_p.T87T	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	87	Helical; (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGAGAGGGCGTGGAGACGA	0.602													T	147231086	C	T	147231086	2	4	248	1	0	0	0	0	0	0	0	1	6404	755	27	1		1	GJA5	1	147231086	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	26844119	147231086	102019535	120	122127											
GJA8	2703	broad.mit.edu	37	chr1	147380398	147380398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtccgcatggaggagaagCgcaaaagccgcgaggcggag	17	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:147380398C>T	uc001epu.1	+	2	379	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	106	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GGAGGAGAAGCGCAAAAGCCG	0.652													T	147380398	C	T	147380398	3	4	248	1	0	0	0	0	1	0	0	0	6405	768	27	1	318	1	GJA8	1	147380398	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	149312	147380398	101870223	121	122128											
GJA8	2703	broad.mit.edu	37	chr1	147380608	147380608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacttcctgtacgggttcCggatcctgcctctgtaccgc	9	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:147380608C>T	uc001epu.1	+	2	589	c.526C>T	c.(526-528)CGG>TGG	p.R176W		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	176	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GTACGGGTTCCGGATCCTGCC	0.587													T	147380608	C	T	147380608	3	4	248	1	0	0	0	0	1	0	0	0	6405	643	23	1	528	1	GJA8	1	147380608	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	210	147380608	101870013	122	122129											
TMOD4	29765	broad.mit.edu	37	chr1	151144226	151144226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggcttatacttgtcAggctgtaccacacctggtga	11	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:151144226A>G	uc001exc.3	-	6	691	c.501T>C	c.(499-501)CCT>CCC	p.P167P	TMOD4_uc001exb.2_Silent_p.P31P|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Silent_p.P98P	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	167					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	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)			TATACTTGTCAGGCTGTACCA	0.453													G	151144226	A	G	151144226	2	3	248	1	0	0	0	0	0	0	0	1	16233	175	7	3		3	TMOD4	1	151144226	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3763618	151144226	98106395	123	122130											
LINGO4	339398	broad.mit.edu	37	chr1	151774250	151774250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaatggaggtgaggcAtgcccctgacaggcgtagct	16	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:151774250A>G	uc001ezf.1	-	2	1121	c.931T>C	c.(931-933)TGC>CGC	p.C311R		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	311	Extracellular (Potential).|LRR 10.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGTGAGGCATGCCCCTGAC	0.602													G	151774250	A	G	151774250	3	3	248	1	0	0	0	0	1	0	0	0	8817	217	8	3	854	3	LINGO4	1	151774250	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	630024	151774250	97476371	124	122131											
TCHHL1	126637	broad.mit.edu	37	chr1	152060619	152060619	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctcaggagctgaggcaTctttacaaactcaggagagg	11	8	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152060619T>G	uc001ezo.1	-	2	66	c.1A>C	c.(1-3)ATG>CTG	p.M1L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	1							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTGAGGCATCTTTACAAAC	0.453													G	152060619	T	G	152060619	3	3	248	1	0	0	0	0	1	0	0	0	15698	1435	50	5	2721	5	TCHHL1	1	152060619	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	286369	152060619	97190002	125	122132											
HRNR	388697	broad.mit.edu	37	chr1	152191657	152191657	+	Silent	SNP	A	A	G													ccagactcgtgttgcccaaaAccagaagcctggcctgagcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191657A>G	uc001ezt.1	-	3	2524	c.2448T>C	c.(2446-2448)GGT>GGC	p.G816G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	816	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGCCCAAAACCAGAAGCCT	0.577													G	152191657	A	G	152191657	2	3	248	1	0	0	0	0	0	0	0	1	7359	30	2	3		3	HRNR	1	152191657	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	131038	152191657	97058964	126	122133	628	2									
HRNR	388697	broad.mit.edu	37	chr1	152191665	152191665	+	Missense_Mutation	SNP	C	C	T													gtgttgcccaaaaccagaagCctggcctgagccagactcat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191665C>T	uc001ezt.1	-	3	2516	c.2440G>A	c.(2440-2442)GCT>ACT	p.A814T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	814	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACCAGAAGCCTGGCCTGAG	0.567													T	152191665	C	T	152191665	3	4	248	1	0	0	0	0	1	0	0	0	7359	739	26	2	6116	2	HRNR	1	152191665	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	8	152191665	97058956	127	122134	628	2									
HRNR	388697	broad.mit.edu	37	chr1	152191750	152191750	+	Silent	SNP	T	T	C													ccgtggctggaggagtgcccTgaactggacccatgtcggac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191750T>C	uc001ezt.1	-	3	2431	c.2355A>G	c.(2353-2355)TCA>TCG	p.S785S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	785	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAGTGCCCTGAACTGGACC	0.607													C	152191750	T	C	152191750	2	2	248	1	0	0	0	0	0	0	0	1	7359	1567	55	3		3	HRNR	1	152191750	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	85	152191750	97058871	128	122135	629	2									
HRNR	388697	broad.mit.edu	37	chr1	152191755	152191755	+	Missense_Mutation	SNP	T	T	C													gctggaggagtgccctgaacTggacccatgtcggacacggc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191755T>C	uc001ezt.1	-	3	2426	c.2350A>G	c.(2350-2352)AGT>GGT	p.S784G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	784	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCTGAACTGGACCCATGT	0.602													C	152191755	T	C	152191755	3	2	248	1	0	0	0	0	1	0	0	0	7359	1580	55	3	6206	3	HRNR	1	152191755	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	5	152191755	97058866	129	122136	629	2									
IVL	3713	broad.mit.edu	37	chr1	152882759	152882759	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcagcaggaggggcaCctgaagcacctagagcagca	14	12	0	3	rs12045716		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152882759C>G	uc001fau.2	+	2	532	c.486C>G	c.(484-486)CAC>CAG	p.H162Q		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	162	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|1.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	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)			aggaggggcacctgaagcacc	0.199													G	152882759	C	G	152882759	3	3	248	1	0	0	0	0	1	0	0	0	7929	506	18	5	488	5	IVL	1	152882759	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	691004	152882759	96367862	130	122137											
SLC27A3	11000	broad.mit.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-													tggcagccctagttctgcgtCccccccacgctttggacctt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622													-	153751860	C	-	153751860	7	5	248	1	0	1	0	1	0	0	0	0	14527	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	869101	153751860	95498761	131	122138											
GATAD2B	57459	broad.mit.edu	37	chr1	153800617	153800617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagcccttgacaccactGccatcctgtttggtgggtaa	9	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:153800617G>A	uc001fdb.3	-	2	451	c.207C>T	c.(205-207)GGC>GGT	p.G69G		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	69						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGACACCACTGCCATCCTGTT	0.478													A	153800617	G	A	153800617	2	1	248	1	0	0	0	0	0	0	0	1	6261	1306	46	2		2	GATAD2B	1	153800617	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	48757	153800617	95450004	132	122139											
CHRNB2	1141	broad.mit.edu	37	chr1	154544436	154544436	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggagccctcttcttccgCgaagccccaggggccgactc	12	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:154544436C>A	uc001ffg.2	+	5	1401	c.1137C>A	c.(1135-1137)CGC>CGA	p.R379R		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	379	Cytoplasmic (Potential).				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				0	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)	TCTTCTTCCGCGAAGCCCCAG	0.721													A	154544436	C	A	154544436	2	1	248	1	0	0	0	0	0	0	0	1	3391	755	27	5		5	CHRNB2	1	154544436	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	743819	154544436	94706185	133	122140											
PBXIP1	57326	broad.mit.edu	37	chr1	154917508	154917509	+	In_Frame_Ins	INS	-	-	GGT													ggggcagggtgtcagccccgINSgtggtggtggtggtggctat					rs143592003		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:154917507_154917508C>CGGT	uc001ffr.3	-	10	2247_2248	c.2188_2189G>ACCG	c.(2188-2190)cgg>ACCGg	p.R730T	PBXIP1_uc001ffs.3_In_Frame_Ins_p.R701T|PBXIP1_uc010pep.2_In_Frame_Ins_p.R575T	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	730					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)			GTGTCAGCCCCGGTGGTGGTGG	0.634													GGT	154917509	-	GGT	154917508	7	5	248	1	0	1	1	0	0	0	0	0	11496	1115	39	0	11	0	PBXIP1	1	154917508	In_Frame_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	373072	154917508	94333113	134	122141											
HCN3	57657	broad.mit.edu	37	chr1	155257872	155257872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctcgctctgcttggcGctcagcaggctctccagctt	10	16	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:155257872G>A	uc001fjz.1	+	8	1951	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R343H	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	648	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	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)			TCTGCTTGGCGCTCAGCAGGC	0.697													A	155257872	G	A	155257872	3	1	248	1	0	0	0	0	1	0	0	0	6998	1087	38	1	1973	1	HCN3	1	155257872	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	340364	155257872	93992749	135	122142											
FDPS	2224	broad.mit.edu	37	chr1	155290332	155290332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatggctctcattgaacagTacgcagcacccctgccccca	7	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:155290332T>C	uc001fkc.2	+	11	1411	c.1192T>C	c.(1192-1194)TAC>CAC	p.Y398H	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y332H|FDPS_uc001fke.2_Missense_Mutation_p.Y398H|FDPS_uc001fkf.2_Missense_Mutation_p.Y332H|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	398					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CATTGAACAGTACGCAGCACC	0.557													C	155290332	T	C	155290332	3	2	248	1	0	0	0	0	1	0	0	0	5803	1638	57	3	1230	3	FDPS	1	155290332	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	32460	155290332	93960289	136	122143											
MEX3A	92312	broad.mit.edu	37	chr1	156046378	156046378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acggggcttaggagaatattCggatggcttgcgtggctgtg	17	6	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:156046378C>T	uc001fnd.3	-	2	1550	c.1550G>A	c.(1549-1551)CGA>CAA	p.R517Q		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	517						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGAGAATATTCGGATGGCTTG	0.587													T	156046378	C	T	156046378	3	4	248	1	0	0	0	0	1	0	0	0	9509	884	31	1	16	1	MEX3A	1	156046378	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	756046	156046378	93204243	137	122144											
BCAN	63827	broad.mit.edu	37	chr1	156618653	156618653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgtctactgcttccgaGgtgagcccacctccctgcag	9	16	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:156618653G>T	uc001fpp.2	+	6	1399	c.1063G>T	c.(1063-1065)GAC>TAC	p.D355Y	BCAN_uc001fpo.2_Missense_Mutation_p.D355Y	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	355					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCGAGGTGAGCCCAC	0.547													T	156618653	G	T	156618653	3	4	248	1	0	0	0	0	1	0	0	0	1345	1014	35	5	1081	5	BCAN	1	156618653	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	572275	156618653	92631968	138	122145											
C1orf92	149499	broad.mit.edu	37	chr1	156899080	156899080	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagcacagccctcctcCtctcgacacggggactccaa	9	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:156899080C>A	uc001fqm.2	+	10	1177	c.1005C>A	c.(1003-1005)TCC>TCA	p.S335S	C1orf92_uc001fql.2_Silent_p.S120S	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	335											0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCTCCTCCTCTCGACACG	0.547													A	156899080	C	A	156899080	2	1	248	1	0	0	0	0	0	0	0	1	2069	668	24	5		5	C1orf92	1	156899080	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	280427	156899080	92351541	139	122146											
PFDN2	5202	broad.mit.edu	37	chr1	161071865	161071865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgttctccaaagcgggCagcacctctttgacagttcg	10	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161071865C>T	uc001fxu.2	-	3	311	c.261G>A	c.(259-261)CTG>CTA	p.L87L		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	87					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAAAGCGGGCAGCACCTCTT	0.383													T	161071865	C	T	161071865	2	4	248	1	0	0	0	0	0	0	0	1	11756	697	25	2		2	PFDN2	1	161071865	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4172785	161071865	88178756	140	122147											
PFDN2	5202	broad.mit.edu	37	chr1	161072148	161072148	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgttcctgccgaaggcgGttgaagccagcaatcaccta	11	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161072148G>A	uc001fxu.2	-	2	143	c.93C>T	c.(91-93)AAC>AAT	p.N31N		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	31				GFNRLR -> SFNAF (in Ref. 3; AAF36151).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCGAAGGCGGTTGAAGCCAG	0.522													A	161072148	G	A	161072148	2	1	248	1	0	0	0	0	0	0	0	1	11756	1252	44	4		4	PFDN2	1	161072148	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	283	161072148	88178473	141	122148											
USP21	27005	broad.mit.edu	37	chr1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-													ctgcctcccgaggctccatcAaaaaaagttcagtaggtgta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|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)			GAGGCTCCATCAAAAAAAGTT	0.517													-	161134660	A	-	161134660	7	5	248	1	0	1	0	1	0	0	0	0	17050	131	5	0	1458	0	USP21	1	161134660	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	62512	161134660	88115961	142	122149											
FCGR3A	2214	broad.mit.edu	37	chr1	161514529	161514529	+	Frame_Shift_Del	DEL	T	T	-													tcacagtctctgaagacacaTttttactcccaaaaagcccc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161514528_161514528AT>A	uc001gar.3	-	3	832	c.648_648AT>T	c.(646-648)aatfs	p.N216fs	FCGR3A_uc001gas.3_Frame_Shift_Del_p.N215fs|FCGR3A_uc001gat.4_Frame_Shift_Del_p.N180fs|FCGR3A_uc009wuh.3_Frame_Shift_Del_p.N179fs|FCGR3A_uc009wui.3_Frame_Shift_Del_p.N180fs	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	180					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)	CTGAAGACACATTTTTACTCC	0.483													-	161514529	T	-	161514529	7	5	248	1	0	1	0	1	0	0	0	0	5784	1493	52	0	233	0	FCGR3A	1	161514529	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	379869	161514529	87736092	143	122150											
C1orf226	400793	broad.mit.edu	37	chr1	162353090	162353090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcacagcctgtcctcAgcagtctggagtatgggaca	10	11	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:162353090A>G	uc001gby.2	+	2	608	c.436A>G	c.(436-438)AGC>GGC	p.S146G	C1orf226_uc010pkt.1_Missense_Mutation_p.S189G	NM_001085375	NP_001078844	A1L170	CA226_HUMAN	hypothetical protein LOC400793 isoform 2	146										ovary(1)	1						GCCTGTCCTCAGCAGTCTGGA	0.612													G	162353090	A	G	162353090	3	3	248	1	0	0	0	0	1	0	0	0	2032	188	7	3	575	3	C1orf226	1	162353090	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	838561	162353090	86897531	144	122151											
LRRC52	440699	broad.mit.edu	37	chr1	165514118	165514118	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgctctttcctggacttCgccatcttcttaatagtgtt	6	11	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:165514118C>T	uc001gde.2	+	1	641	c.585C>T	c.(583-585)TTC>TTT	p.F195F	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	195	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCCTGGACTTCGCCATCTTCT	0.512													T	165514118	C	T	165514118	2	4	248	1	0	0	0	0	0	0	0	1	9010	883	31	1		1	LRRC52	1	165514118	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3161028	165514118	83736503	145	122152											
GPA33	10223	broad.mit.edu	37	chr1	167038311	167038311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgttggatatgctgacgCgattcttataaagctcacca	8	9	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:167038311C>T	uc001gea.1	-	3	607	c.263G>A	c.(262-264)CGC>CAC	p.R88H		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	88	Ig-like V-type.|Extracellular (Potential).					integral to plasma membrane	receptor activity				0						TATGCTGACGCGATTCTTATA	0.498													T	167038311	C	T	167038311	3	4	248	1	0	0	0	0	1	0	0	0	6586	768	27	1	716	1	GPA33	1	167038311	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1524193	167038311	82212310	146	122153											
DUSP27	92235	broad.mit.edu	37	chr1	167095203	167095203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcaatgagaagttgAtggaggagagagaagaggac	18	3	1	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:167095203A>G	uc001geb.1	+	5	835	c.835A>G	c.(835-837)ATG>GTG	p.M279V		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	279					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TGAGAAGTTGATGGAGGAGAG	0.617													G	167095203	A	G	167095203	3	3	248	1	0	0	0	0	1	0	0	0	4824	333	12	3	853	3	DUSP27	1	167095203	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	56892	167095203	82155418	147	122154											
DUSP27	92235	broad.mit.edu	37	chr1	167095706	167095706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagagcgtgagcagccaCgacatctgggtcctgaagca	15	10	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:167095706C>T	uc001geb.1	+	5	1338	c.1338C>T	c.(1336-1338)CAC>CAT	p.H446H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	446					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TGAGCAGCCACGACATCTGGG	0.622													T	167095706	C	T	167095706	2	4	248	1	0	0	0	0	0	0	0	1	4824	535	19	1		1	DUSP27	1	167095706	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	503	167095706	82154915	148	122155											
FMO4	2329	broad.mit.edu	37	chr1	171303826	171303826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcgacattagccatcatCggccttatcggccttaaagg	10	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:171303826C>T	uc001gho.2	+	8	1321	c.1104C>T	c.(1102-1104)ATC>ATT	p.I368I		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	368					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TAGCCATCATCGGCCTTATCG	0.423													T	171303826	C	T	171303826	2	4	248	1	0	0	0	0	0	0	0	1	5957	874	31	1		1	FMO4	1	171303826	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4208120	171303826	77946795	149	122156											
MYOC	4653	broad.mit.edu	37	chr1	171621376	171621376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagctggtcccgctcccGcctcagggtgcccagctccc	10	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:171621376G>A	uc001ghu.2	-	1	398	c.376C>T	c.(376-378)CGG>TGG	p.R126W	MYOC_uc010pmk.1_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	126	Potential.		R -> W (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCCCGCTCCCGCCTCAGGGTG	0.622													A	171621376	G	A	171621376	3	1	248	1	0	0	0	0	1	0	0	0	10086	1086	38	1	1150	1	MYOC	1	171621376	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	317550	171621376	77629245	150	122157											
TNR	7143	broad.mit.edu	37	chr1	175355239	175355239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgactgacacctcgtatCgggagccaggccgcagggcc	13	15	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:175355239C>T	uc001gkp.1	-	6	1787	c.1706G>A	c.(1705-1707)CGA>CAA	p.R569Q	TNR_uc009wwu.1_Missense_Mutation_p.R569Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	569	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACCTCGTATCGGGAGCCAGG	0.627													T	175355239	C	T	175355239	3	4	248	1	0	0	0	0	1	0	0	0	16335	884	31	1	2434	1	TNR	1	175355239	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3733863	175355239	73895382	151	122158											
RASAL2	9462	broad.mit.edu	37	chr1	178427092	178427092	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtggccagcatcaaaCagctgcgggaaacccagagc	12	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:178427092C>T	uc001glr.2	+	12	2367	c.2242C>T	c.(2242-2244)CAG>TAG	p.Q748*	RASAL2_uc001glq.2_Nonsense_Mutation_p.Q889*|RASAL2_uc009wxc.2_Nonsense_Mutation_p.Q262*	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	748					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAGCATCAAACAGCTGCGGGA	0.572													T	178427092	C	T	178427092	4	4	248	1	0	0	0	0	0	1	0	0	13064	479	17	4	2757	4	RASAL2	1	178427092	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3071853	178427092	70823529	152	122159											
CEP350	9857	broad.mit.edu	37	chr1	180063631	180063631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccaaaagaaagtaacAccccaagacctatcccaaaa	5	12	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:180063631A>G	uc001gnt.2	+	34	8774	c.8391A>G	c.(8389-8391)ACA>ACG	p.T2797T	CEP350_uc009wxl.2_Silent_p.T2796T|CEP350_uc001gnv.2_Silent_p.T932T|CEP350_uc001gnw.1_Silent_p.T554T|CEP350_uc001gnx.1_Silent_p.T554T	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2797						centrosome|nucleus|spindle				ovary(4)	4						AGAAAGTAACACCCCAAGACC	0.398													G	180063631	A	G	180063631	2	3	248	1	0	0	0	0	0	0	0	1	3254	146	6	3		3	CEP350	1	180063631	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1636539	180063631	69186990	153	122160											
ZNF648	127665	broad.mit.edu	37	chr1	182026138	182026138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcccgcagtctggacaCgggtagggtttctcgcctgt	13	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:182026138C>T	uc001goz.2	-	2	1216	c.1008G>A	c.(1006-1008)CCG>CCA	p.P336P		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	336	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTCTGGACACGGGTAGGGTT	0.632													T	182026138	C	T	182026138	2	4	248	1	0	0	0	0	0	0	0	1	18060	523	19	1		1	ZNF648	1	182026138	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1962507	182026138	67224483	154	122161											
LAMC1	3915	broad.mit.edu	37	chr1	183079647	183079647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtaatggacacgcaagCgagtgtatgaagaacgaatt	11	5	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:183079647C>T	uc001gpy.3	+	4	1136	c.879C>T	c.(877-879)AGC>AGT	p.S293S		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	293	Laminin EGF-like 1.				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			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACACGCAAGCGAGTGTATGA	0.403													T	183079647	C	T	183079647	2	4	248	1	0	0	0	0	0	0	0	1	8614	767	27	1		1	LAMC1	1	183079647	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1053509	183079647	66170974	155	122162											
RGL1	23179	broad.mit.edu	37	chr1	183881272	183881272	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccaccaaagagcagcccaAgtccactgccagcgggagct	10	16	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:183881272A>T	uc001gqo.2	+	15	1776	c.1619A>T	c.(1618-1620)AAG>ATG	p.K540M	RGL1_uc010pof.1_Missense_Mutation_p.K345M|RGL1_uc001gqm.2_Missense_Mutation_p.K575M|RGL1_uc010pog.1_Missense_Mutation_p.K538M|RGL1_uc010poh.1_Missense_Mutation_p.K538M|RGL1_uc010poi.1_Missense_Mutation_p.K511M	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	540					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)|ovary(4)|lung(2)	11						GAGCAGCCCAAGTCCACTGCC	0.532													T	183881272	A	T	183881272	3	4	248	1	0	0	0	0	1	0	0	0	13276	72	3	5	1782	5	RGL1	1	183881272	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	801625	183881272	65369349	156	122163											
HMCN1	83872	broad.mit.edu	37	chr1	186024782	186024783	+	Frame_Shift_Ins	INS	-	-	A													tgtagcaggaatgactgacaINSaaaaatatgacttaagtgtc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:186024781_186024782C>CA	uc001grq.1	+	44	7348_7349	c.7119_7120C>CA	c.(7117-7122)gacaaafs	p.D2373fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2373	Ig-like C2-type 21.				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						GAATGACTGACAAAAAATATGA	0.421													A	186024783	-	A	186024782	7	5	248	1	0	1	1	0	0	0	0	0	7220	131	5	0	7298	0	HMCN1	1	186024782	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	2143510	186024782	63225839	157	122164											
HMCN1	83872	broad.mit.edu	37	chr1	186113349	186113349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccttggggaacatgcagcGaaagttgtgggaaaggtact	15	6	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:186113349G>A	uc001grq.1	+	90	14198	c.13969G>A	c.(13969-13971)GAA>AAA	p.E4657K	HMCN1_uc001grs.1_Missense_Mutation_p.E226K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4657	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AACATGCAGCGAAAGTTGTGG	0.488													A	186113349	G	A	186113349	3	1	248	1	0	0	0	0	1	0	0	0	7220	1059	37	1	14327	1	HMCN1	1	186113349	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	88567	186113349	63137272	158	122165											
ASPM	259266	broad.mit.edu	37	chr1	197071243	197071243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctttgtctgagataatGctgcctctgcagttttgcag	11	8	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:197071243G>A	uc001gtu.2	-	18	7395	c.7138C>T	c.(7138-7140)CAT>TAT	p.H2380Y	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H228Y	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2380					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTGAGATAATGCTGCCTCTGC	0.438													A	197071243	G	A	197071243	3	1	248	1	0	0	0	0	1	0	0	0	1056	1319	46	2	3339	2	ASPM	1	197071243	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	10957894	197071243	52179378	159	122166											
ASPM	259266	broad.mit.edu	37	chr1	197071489	197071489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctttgtacaaagatgtgCccgatattttctctgaatca	7	8	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:197071489C>T	uc001gtu.2	-	18	7149	c.6892G>A	c.(6892-6894)GCA>ACA	p.A2298T	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.A146T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2298					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CAAAGATGTGCCCGATATTTT	0.368													T	197071489	C	T	197071489	3	4	248	1	0	0	0	0	1	0	0	0	1056	739	26	2	3585	2	ASPM	1	197071489	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	246	197071489	52179132	160	122167											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200708978	200708978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggatgctgcagaccccaGggagatgagaaagacgttca	16	8	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:200708978G>T	uc001gvl.2	+	1	293	c.23G>T	c.(22-24)AGG>ATG	p.R8M	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R8M|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R8M	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	8						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCAGACCCCAGGGAGATGAGA	0.607													T	200708978	G	T	200708978	3	4	248	1	0	0	0	0	1	0	0	0	2612	1000	35	5	25	5	CAMSAP1L1	1	200708978	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3637489	200708978	48541643	161	122168											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200817781	200817781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatggacgaagattcttcGttgagagattatactgtaag	10	5	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:200817781G>A	uc001gvl.2	+	12	2187	c.1917G>A	c.(1915-1917)TCG>TCA	p.S639S	CAMSAP1L1_uc001gvk.2_Silent_p.S628S|CAMSAP1L1_uc001gvm.2_Silent_p.S612S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	639						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AAGATTCTTCGTTGAGAGATT	0.408													A	200817781	G	A	200817781	2	1	248	1	0	0	0	0	0	0	0	1	2612	1132	40	1		1	CAMSAP1L1	1	200817781	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	108803	200817781	48432840	162	122169											
KIF21B	23046	broad.mit.edu	37	chr1	200969558	200969558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccttcttctttagccgctCcaggtcctgcttggccctgc	8	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:200969558C>T	uc001gvs.1	-	11	1962	c.1645G>A	c.(1645-1647)GAG>AAG	p.E549K	KIF21B_uc001gvr.1_Missense_Mutation_p.E549K|KIF21B_uc009wzl.1_Missense_Mutation_p.E549K|KIF21B_uc010ppn.1_Missense_Mutation_p.E549K	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	549	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TTTAGCCGCTCCAGGTCCTGC	0.687													T	200969558	C	T	200969558	3	4	248	1	0	0	0	0	1	0	0	0	8289	864	30	4	3325	4	KIF21B	1	200969558	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	151777	200969558	48281063	163	122170											
CACNA1S	779	broad.mit.edu	37	chr1	201009086	201009086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctcgtcctttcagtAgctctgttgccatgatctcc	9	14	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:201009086A>G	uc001gvv.2	-	44	5722	c.5495T>C	c.(5494-5496)CTA>CCA	p.L1832P		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1832	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCTTTCAGTAGCTCTGTTGC	0.607													G	201009086	A	G	201009086	3	3	248	1	0	0	0	0	1	0	0	0	2547	420	15	3	130	3	CACNA1S	1	201009086	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	39528	201009086	48241535	164	122171											
CACNA1S	779	broad.mit.edu	37	chr1	201043696	201043696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagaagtcaggctctcCgcctcggccaggttgtccac	13	14	2	1	rs61734612		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:201043696C>T	uc001gvv.2	-	14	2228	c.2001G>A	c.(1999-2001)GCG>GCA	p.A667A		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	667	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGGCTCTCCGCCTCGGCCA	0.567													T	201043696	C	T	201043696	2	4	248	1	0	0	0	0	0	0	0	1	2547	639	23	1		1	CACNA1S	1	201043696	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	34610	201043696	48206925	165	122172											
LGR6	59352	broad.mit.edu	37	chr1	202276473	202276473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggatcttagctggaaCgccatccggtccatccaccc	10	15	1	0	rs146190126	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:202276473C>T	uc001gxu.2	+	14	1224	c.1224C>T	c.(1222-1224)AAC>AAT	p.N408N	LGR6_uc001gxv.2_Silent_p.N356N|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.N269N	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	408	LRR 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TTAGCTGGAACGCCATCCGGT	0.607													T	202276473	C	T	202276473	2	4	248	1	0	0	0	0	0	0	0	1	8758	535	19	1		1	LGR6	1	202276473	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1232777	202276473	46974148	166	122173											
SYT2	127833	broad.mit.edu	37	chr1	202568417	202568417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagggtcttcttcttcaCggttgtcttcttcttcttga	8	10	9	1	rs142292654	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:202568417C>T	uc001gye.2	-	8	1175	c.982G>A	c.(982-984)GTG>ATG	p.V328M	SYT2_uc010pqb.1_Missense_Mutation_p.V328M|SYT2_uc009xaf.2_Missense_Mutation_p.V158M	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	328	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTCTTCTTCACGGTTGTCTTC	0.542													T	202568417	C	T	202568417	3	4	248	1	0	0	0	0	1	0	0	0	15471	536	19	1	285	1	SYT2	1	202568417	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	291944	202568417	46682204	167	122174											
PPFIA4	8497	broad.mit.edu	37	chr1	203014629	203014629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacctgggcacggcccGccgggacctcatcaagtcgg	16	14	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:203014629G>A	uc009xaj.2	+	11	1241	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	PPFIA4_uc010pqf.1_5'UTR			O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	178					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						GGCACGGCCCGCCGGGACCTC	0.632													A	203014629	G	A	203014629	3	1	248	1	0	0	0	0	1	0	0	0	12312	1102	38	1		1	PPFIA4	1	203014629	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	446212	203014629	46235992	168	122175											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228471	204228472	+	Frame_Shift_Ins	INS	-	-	T													gagctcttgcgctgggcaatINStttgtcagggttggtgcgtg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:204228470_204228471A>AT	uc001hau.3	-	7	1239_1240	c.922_923T>AT	c.(922-924)attfs	p.I308fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	308	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCGCTGGGCAATTTTGTCAGGG	0.644													T	204228472	-	T	204228471	7	5	248	1	0	1	1	0	0	0	0	0	12060	1493	52	0	2284	0	PLEKHA6	1	204228471	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1213842	204228471	45022150	169	122176											
LEMD1	93273	broad.mit.edu	37	chr1	205388453	205388453	+	Frame_Shift_Del	DEL	T	T	-													agaccaacaactgtactaacTttttttcatacaactttctg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:205388452_205388452CT>C	uc001hcj.2	-	2	246	c.111_111AG>G	c.(109-111)aagfs	p.K37fs	LEMD1_uc001hcl.2_Intron|LEMD1_uc001hci.2_Frame_Shift_Del_p.K37fs|LEMD1_uc001hcm.2_Intron|LEMD1_uc001hcn.2_Intron|LEMD1_uc001hck.2_Non-coding_Transcript	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	37	LEM.					integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			ACTGTACTAACTTTTTTTCAT	0.438													-	205388453	T	-	205388453	7	5	248	1	0	1	0	1	0	0	0	0	8719	1609	56	0	224	0	LEMD1	1	205388453	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1159982	205388453	43862168	170	122177											
SLC41A1	254428	broad.mit.edu	37	chr1	205764134	205764134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaggacccgggctgagCgagaattcacatctggaatt	14	8	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:205764134C>T	uc001hdh.1	-	10	2092	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	SLC41A1_uc001hdg.1_Missense_Mutation_p.R28H	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	407						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCGGGCTGAGCGAGAATTCAC	0.582													T	205764134	C	T	205764134	3	4	248	1	0	0	0	0	1	0	0	0	14629	768	27	1	329	1	SLC41A1	1	205764134	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	375681	205764134	43486487	171	122178											
PLXNA2	5362	broad.mit.edu	37	chr1	208255757	208255757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccggaagtagccgcttacCtttcaggtcctgagggttgt	12	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:208255757C>A	uc001hgz.2	-	11	3153	c.2395G>T	c.(2395-2397)GTC>TTC	p.V799F		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	799	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCCGCTTACCTTTCAGGTCC	0.517													A	208255757	C	A	208255757	3	1	248	1	0	0	0	0	1	0	0	0	12120	695	24	5	3377	5	PLXNA2	1	208255757	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2491623	208255757	40994864	172	122179											
PLXNA2	5362	broad.mit.edu	37	chr1	208315787	208315788	+	Frame_Shift_Ins	INS	-	-	GG													tcgtactggaccccaccatgINSggggggaccgtcggcccgaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:208315786_208315787T>TGG	uc001hgz.3	-	3	2151_2152	c.1393_1394A>CCA	c.(1393-1395)catfs	p.H465fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(2)		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)		GACCCCACCATGGGGGGGACCG	0.594													GG	208315788	-	GG	208315787	7	5	248	1	0	1	1	0	0	0	0	0	12120	1348	47	0	4407	0	PLXNA2	1	208315787	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	60030	208315787	40934834	173	122180											
LOC642587	642587	broad.mit.edu	37	chr1	209605620	209605620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagccaccgccaccaccGccgccgccaccaccgtagca	9	23	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:209605620G>A	uc009xcn.2	+	4	618	c.235G>A	c.(235-237)GCC>ACC	p.A79T		NM_001104548	NP_001098018			hypothetical protein LOC642587												0				OV - Ovarian serous cystadenocarcinoma(81;0.0422)		cgccaccaccgccgccgccac	0.289													A	209605620	G	A	209605620	3	1	248	1	0	0	0	0	1	0	0	0	8882	1087	38	1	245	1	LOC642587	1	209605620	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1289833	209605620	39645001	174	122181											
LAMB3	3914	broad.mit.edu	37	chr1	209807874	209807874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctgaggccgaccctggCggacccgagggaaggtggag	18	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:209807874C>T	uc001hhg.2	-	5	872	c.482G>A	c.(481-483)CGC>CAC	p.R161H	LAMB3_uc009xco.2_Missense_Mutation_p.R161H|LAMB3_uc001hhh.2_Missense_Mutation_p.R161H|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	161	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGACCCTGGCGGACCCGAGG	0.627													T	209807874	C	T	209807874	3	4	248	1	0	0	0	0	1	0	0	0	8612	768	27	1	3108	1	LAMB3	1	209807874	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	202254	209807874	39442747	175	122182											
RCOR3	55758	broad.mit.edu	37	chr1	211444619	211444619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatggagggatgcttgtatGgtctccatatcacagtatcc	10	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:211444619G>T	uc001hig.2	+	2	264	c.95G>T	c.(94-96)TGG>TTG	p.W32L	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.W90L|RCOR3_uc010psw.1_Missense_Mutation_p.W90L|RCOR3_uc001hif.2_Missense_Mutation_p.W90L	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	32	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATGCTTGTATGGTCTCCATAT	0.353													T	211444619	G	T	211444619	3	4	248	1	0	0	0	0	1	0	0	0	13184	1357	47	5	279	5	RCOR3	1	211444619	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1636745	211444619	37806002	176	122183											
TRAF5	7188	broad.mit.edu	37	chr1	211526725	211526725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctacaaatgtgccttctgCcactcggtgcttcacaaccc	7	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:211526725C>T	uc001hih.2	+	2	204	c.144C>T	c.(142-144)TGC>TGT	p.C48C	TRAF5_uc001hii.2_Silent_p.C48C|TRAF5_uc010psx.1_Silent_p.C48C|TRAF5_uc010psy.1_Silent_p.C48C|TRAF5_uc001hij.2_Silent_p.C48C	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	48	RING-type.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GTGCCTTCTGCCACTCGGTGC	0.572													T	211526725	C	T	211526725	2	4	248	1	0	0	0	0	0	0	0	1	16441	747	26	2		2	TRAF5	1	211526725	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	82106	211526725	37723896	177	122184											
TRAF5	7188	broad.mit.edu	37	chr1	211545647	211545647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggatgggcacacagTgtccatcttcagccagtcct	13	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:211545647T>C	uc001hih.2	+	11	1337	c.1277T>C	c.(1276-1278)GTG>GCG	p.V426A	TRAF5_uc001hii.2_Missense_Mutation_p.V426A|TRAF5_uc010psx.1_Missense_Mutation_p.V437A|TRAF5_uc010psy.1_Missense_Mutation_p.V320A|TRAF5_uc001hij.2_Missense_Mutation_p.V426A	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	426	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGGCACACAGTGTCCATCTTC	0.527													C	211545647	T	C	211545647	3	2	248	1	0	0	0	0	1	0	0	0	16441	1696	59	3	1315	3	TRAF5	1	211545647	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	18922	211545647	37704974	178	122185											
EPRS	2058	broad.mit.edu	37	chr1	220191833	220191833	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtcccactccatgttcacGactgaacgtgaggagcccta	9	13	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:220191833G>A	uc001hly.1	-	12	1722	c.1452C>T	c.(1450-1452)GTC>GTT	p.V484V	EPRS_uc010puf.1_Silent_p.V235V|EPRS_uc001hlz.1_Silent_p.V484V|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	484	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCATGTTCACGACTGAACGTG	0.363													A	220191833	G	A	220191833	2	1	248	1	0	0	0	0	0	0	0	1	5191	1045	37	1		1	EPRS	1	220191833	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8646186	220191833	29058788	179	122186											
IARS2	55699	broad.mit.edu	37	chr1	220300109	220300109	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggttggtggccctgatgcCttggaatatgtgccaggtca	14	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:220300109C>A	uc001hmc.2	+	14	1865	c.1761C>A	c.(1759-1761)GCC>GCA	p.A587A		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	587					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCCCTGATGCCTTGGAATATG	0.383													A	220300109	C	A	220300109	2	1	248	1	0	0	0	0	0	0	0	1	7474	668	24	5		5	IARS2	1	220300109	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	108276	220300109	28950512	180	122187											
TP53BP2	7159	broad.mit.edu	37	chr1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-													tggcctttaagtgctctcacTttttttagcttagcttcctg					rs146703239		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378													-	223991931	T	-	223991931	7	5	248	1	0	1	0	1	0	0	0	0	16381	1606	56	0	2862	0	TP53BP2	1	223991931	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	3691822	223991931	25258690	181	122188											
LEFTY1	10637	broad.mit.edu	37	chr1	226109287	226109287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagttggattgccaggcGccgtggcaaacccatcttca	11	14	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:226109287G>A	uc010pvj.1	-	4	531	c.376C>T	c.(376-378)CGC>TGC	p.R126C	PYCR2_uc001hpp.2_Intron|PYCR2_uc001hpq.2_Missense_Mutation_p.R200C|PYCR2_uc001hpr.2_Missense_Mutation_p.R153C			O75610	LFTY1_HUMAN	SubName: Full=cDNA FLJ54750, moderately similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2);	Error:Variant_position_missing_in_O75610_after_alignment					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				0	Breast(184;0.197)					ATTGCCAGGCGCCGTGGCAAA	0.577													A	226109287	G	A	226109287	3	1	248	1	0	0	0	0	1	0	0	0	8715	1087	38	1		1	LEFTY1	1	226109287	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2117356	226109287	23141334	182	122189											
OBSCN	84033	broad.mit.edu	37	chr1	228444455	228444455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggctcaggcccagacGgaggtgatgtggtacaagga	18	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:228444455G>A	uc009xez.1	+	15	4457	c.4413G>A	c.(4411-4413)ACG>ACA	p.T1471T	OBSCN_uc001hsn.2_Silent_p.T1471T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1471	Ig-like 15.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCCCAGACGGAGGTGATGT	0.652													A	228444455	G	A	228444455	2	1	248	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228444455	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2335168	228444455	20806166	183	122190											
OBSCN	84033	broad.mit.edu	37	chr1	228503650	228503650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgaggtggccgcccacaCctggctgctggacgacgaac	14	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:228503650C>T	uc009xez.1	+	50	13159	c.13115C>T	c.(13114-13116)ACC>ATC	p.T4372I	OBSCN_uc001hsn.2_Missense_Mutation_p.T4372I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4372	Ig-like 45.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCGCCCACACCTGGCTGCTG	0.667													T	228503650	C	T	228503650	3	4	248	1	0	0	0	0	1	0	0	0	10812	507	18	4	13309	4	OBSCN	1	228503650	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	59195	228503650	20746971	184	122191											
OBSCN	84033	broad.mit.edu	37	chr1	228550295	228550295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaccaccctggagcgagCggaccaggaggtcacatctg	13	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:228550295C>T	uc009xez.1	+	80	18724	c.18680C>T	c.(18679-18681)GCG>GTG	p.A6227V	OBSCN_uc001hsr.1_Missense_Mutation_p.A856V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6227					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGGAGCGAGCGGACCAGGAG	0.677													T	228550295	C	T	228550295	3	4	248	1	0	0	0	0	1	0	0	0	10812	768	27	1	20204	1	OBSCN	1	228550295	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	46645	228550295	20700326	185	122192											
ABCB10	23456	broad.mit.edu	37	chr1	229661733	229661733	+	Frame_Shift_Del	DEL	A	A	-													cagtgttgaacccttgggggAaattccggatgaaggccact							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:229661732_229661732GA>G	uc001htp.4	-	9	1900	c.1857_1857TC>C	c.(1855-1857)ttcfs	p.F619fs		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	619	ABC transporter.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438).		integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ACCCTTGGGGGAAATTCCGGA	0.473													-	229661733	A	-	229661733	7	5	248	1	0	1	0	1	0	0	0	0	41	246	9	0	376	0	ABCB10	1	229661733	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	1111438	229661733	19588888	186	122193											
COG2	22796	broad.mit.edu	37	chr1	230827305	230827305	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagatgttgagtacttgggaGagcaggtaacccatcagccg	13	8	1	3	rs140155560		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:230827305G>A	uc001htw.2	+	17	2261	c.2110G>A	c.(2110-2112)GAG>AAG	p.E704K	COG2_uc001htx.2_Missense_Mutation_p.E703K|COG2_uc010pwc.1_Missense_Mutation_p.E577K	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	704					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTACTTGGGAGAGCAGGTAAC	0.587													A	230827305	G	A	230827305	3	1	248	1	0	0	0	0	1	0	0	0	3658	943	33	4	2176	4	COG2	1	230827305	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1165572	230827305	18423316	187	122194											
C1orf198	84886	broad.mit.edu	37	chr1	230975636	230975636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaatcccgtcttcaagaCgacattacttgagctgacct	6	12	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:230975636C>T	uc001hub.2	-	4	990	c.946G>A	c.(946-948)GTC>ATC	p.V316I	C1orf198_uc009xfh.1_Missense_Mutation_p.V186I|C1orf198_uc001huc.1_Missense_Mutation_p.V99I|C1orf198_uc001hud.1_Missense_Mutation_p.V278I	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	316											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCTTCAAGACGACATTACTT	0.358													T	230975636	C	T	230975636	3	4	248	1	0	0	0	0	1	0	0	0	2026	536	19	1	41	1	C1orf198	1	230975636	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	148331	230975636	18274985	188	122195											
TTC13	79573	broad.mit.edu	37	chr1	231060635	231060635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctccactgcatcaacCgtgtcttcccattcattcga	5	15	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:231060635C>A	uc001huf.3	-	14	1704	c.1673G>T	c.(1672-1674)CGG>CTG	p.R558L	TTC13_uc009xfi.2_Missense_Mutation_p.R505L|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R505L|TTC13_uc009xfk.1_Missense_Mutation_p.R448L	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	558							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTGCATCAACCGTGTCTTCCC	0.418													A	231060635	C	A	231060635	3	1	248	1	0	0	0	0	1	0	0	0	16677	652	23	5	949	5	TTC13	1	231060635	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	84999	231060635	18189986	189	122196											
PCNXL2	80003	broad.mit.edu	37	chr1	233152878	233152878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaggagtttgggagacGttaccatatagtatattata	12	3	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:233152878G>A	uc001hvl.2	-	27	4863	c.4628C>T	c.(4627-4629)ACG>ATG	p.T1543M	PCNXL2_uc001hvk.1_Missense_Mutation_p.T195M|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1543						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TTTGGGAGACGTTACCATATA	0.388													A	233152878	G	A	233152878	3	1	248	1	0	0	0	0	1	0	0	0	11592	1145	40	1	1817	1	PCNXL2	1	233152878	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2092243	233152878	16097743	190	122197											
ZP4	57829	broad.mit.edu	37	chr1	238050695	238050695	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgtggtgccacaggaAgtaaatggaaactggaacag	13	6	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:238050695A>C	uc001hym.2	-	5	720	c.720T>G	c.(718-720)ACT>ACG	p.T240T	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	240	ZP.|Extracellular (Potential).				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			ovary(2)|skin(1)	3	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)			TGCCACAGGAAGTAAATGGAA	0.502													C	238050695	A	C	238050695	2	2	248	1	0	0	0	0	0	0	0	1	18215	59	3	5		5	ZP4	1	238050695	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	4897817	238050695	11199926	191	122198											
GREM2	64388	broad.mit.edu	37	chr1	240656370	240656370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtccaggccggggcactCgagctccacgaggacggagg	18	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:240656370C>T	uc001hys.2	-	2	686	c.406G>A	c.(406-408)GAG>AAG	p.E136K		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	136	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGGGGCACTCGAGCTCCACG	0.622													T	240656370	C	T	240656370	3	4	248	1	0	0	0	0	1	0	0	0	6762	893	31	1	104	1	GREM2	1	240656370	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2605675	240656370	8594251	192	122199											
SDCCAG8	10806	broad.mit.edu	37	chr1	243433519	243433519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtgtgggaaatgaggaCgccaggacagcctggcccga	15	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:243433519C>T	uc001hzw.2	+	2	336	c.180C>T	c.(178-180)GAC>GAT	p.D60D	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	60					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	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)		GAAATGAGGACGCCAGGACAG	0.458													T	243433519	C	T	243433519	2	4	248	1	0	0	0	0	0	0	0	1	13959	535	19	1		1	SDCCAG8	1	243433519	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2777149	243433519	5817102	193	122200											
KIF26B	55083	broad.mit.edu	37	chr1	245847561	245847561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagctcgccatgttgctgcGggagtctctggggaacatga	14	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:245847561G>T	uc001ibf.1	+	11	2725	c.2285G>T	c.(2284-2286)CGG>CTG	p.R762L	KIF26B_uc001ibg.1_Missense_Mutation_p.R380L|KIF26B_uc001ibh.1_Missense_Mutation_p.R4L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	762					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			ATGTTGCTGCGGGAGTCTCTG	0.602													T	245847561	G	T	245847561	3	4	248	1	0	0	0	0	1	0	0	0	8295	1116	39	5	2327	5	KIF26B	1	245847561	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2414042	245847561	3403060	194	122201											
OR2W3	343171	broad.mit.edu	37	chr1	248059406	248059406	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accccgctgtgggcaccacgAggtggaccacttcctgcgtg	13	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:248059406A>T	uc001idp.1	+	3	787	c.518A>T	c.(517-519)GAG>GTG	p.E173V	OR2W3_uc010pzb.1_Missense_Mutation_p.E173V	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	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)			GGGCACCACGAGGTGGACCAC	0.652													T	248059406	A	T	248059406	3	4	248	1	0	0	0	0	1	0	0	0	11033	304	11	5	520	5	OR2W3	1	248059406	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2211845	248059406	1191215	195	122202											
OR2T4	127074	broad.mit.edu	37	chr1	248525177	248525177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttttcatcagtcaattgTctctcatggacatggcgtac	7	10	5	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:248525177T>C	uc001ieh.1	+	1	295	c.295T>C	c.(295-297)TCT>CCT	p.S99P		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	99	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)			CAGTCAATTGTCTCTCATGGA	0.507													C	248525177	T	C	248525177	3	2	248	1	0	0	0	0	1	0	0	0	11027	1667	58	3	297	3	OR2T4	1	248525177	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	465771	248525177	725444	196	122203											
TPO	7173	broad.mit.edu	37	chr2	1437209	1437209	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatcttctttatgtgccataGaaacctcaagaaaagaggaa	7	7	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:1437209G>T	uc002qww.2	+	4	271	c.180_splice	c.e4-1	p.R60_splice	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Splice_Site_p.R60_splice|TPO_uc002qwu.2_Splice_Site_p.R60_splice|TPO_uc002qwr.2_Splice_Site_p.R60_splice|TPO_uc002qwx.2_Splice_Site_p.R60_splice|TPO_uc010yio.1_Splice_Site_p.R60_splice|TPO_uc010yip.1_Splice_Site_p.R60_splice	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a						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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	ATGTGCCATAGAAACCTCAAG	0.318													T	1437209	G	T	1437209	5	4	248	1	0	0	0	0	0	0	1	0	16407	956	33	5	189	5	TPO	2	1437209	Splice_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		1437209	241762164	197	122204											
RNASEH1	246243	broad.mit.edu	37	chr2	3599769	3599769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctgctaactggaggcGccggctccacgctcggcttc	12	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:3599769G>A	uc002qxt.2	-	3	464	c.374C>T	c.(373-375)GCG>GTG	p.A125V	RNASEH1_uc002qxs.2_Missense_Mutation_p.A8V	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	125					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AACTGGAGGCGCCGGCTCCAC	0.507													A	3599769	G	A	3599769	3	1	248	1	0	0	0	0	1	0	0	0	13411	1087	38	1	510	1	RNASEH1	2	3599769	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2162560	3599769	239599604	198	122205											
SOX11	6664	broad.mit.edu	37	chr2	5833214	5833214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgactacaagtaccggcccCggaaaaagcccaaaatggac	9	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:5833214C>T	uc002qyj.2	+	1	416	c.361C>T	c.(361-363)CGG>TGG	p.R121W		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	121					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(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTACCGGCCCCGGAAAAAGCC	0.493													T	5833214	C	T	5833214	3	4	248	1	0	0	0	0	1	0	0	0	14942	643	23	1	363	1	SOX11	2	5833214	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2233445	5833214	237366159	199	122206											
ASAP2	8853	broad.mit.edu	37	chr2	9543426	9543426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgcaaaggcgcattcccGgtgtcatttgtgcactttat	11	10	1	0	rs146689258	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:9543426G>A	uc002qzh.2	+	28	3331	c.2991G>A	c.(2989-2991)CCG>CCA	p.P997P	ASAP2_uc002qzi.2_Silent_p.P952P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	997	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GCGCATTCCCGGTGTCATTTG	0.403													A	9543426	G	A	9543426	2	1	248	1	0	0	0	0	0	0	0	1	1011	1103	39	1		1	ASAP2	2	9543426	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3710212	9543426	233655947	200	122207											
HPCAL1	3241	broad.mit.edu	37	chr2	10559958	10559958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacggagttcaccgaccaCgagctgcaggagtggtacaa	12	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:10559958C>T	uc002raj.2	+	3	449	c.75C>T	c.(73-75)CAC>CAT	p.H25H	HPCAL1_uc002rak.2_Silent_p.H25H|HPCAL1_uc002ral.2_Silent_p.H25H|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.H25H	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	25	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TCACCGACCACGAGCTGCAGG	0.627													T	10559958	C	T	10559958	2	4	248	1	0	0	0	0	0	0	0	1	7330	535	19	1		1	HPCAL1	2	10559958	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1016532	10559958	232639415	201	122208											
HPCAL1	3241	broad.mit.edu	37	chr2	10560154	10560154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatcattgcgctgagcGtgacctcgcggggcaagctg	14	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:10560154G>A	uc002raj.2	+	3	645	c.271G>A	c.(271-273)GTG>ATG	p.V91M	HPCAL1_uc002rak.2_Missense_Mutation_p.V91M|HPCAL1_uc002ral.2_Missense_Mutation_p.V91M|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.V91M	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	91	EF-hand 2.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TGCGCTGAGCGTGACCTCGCG	0.617													A	10560154	G	A	10560154	3	1	248	1	0	0	0	0	1	0	0	0	7330	1145	40	1	273	1	HPCAL1	2	10560154	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	196	10560154	232639219	202	122209											
KCNF1	3754	broad.mit.edu	37	chr2	11052983	11052983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggagatcgcgcgccGcgtgcagctcatcctggacg	16	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:11052983G>A	uc002rax.2	+	1	921	c.431G>A	c.(430-432)CGC>CAC	p.R144H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	144	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ATCGCGCGCCGCGTGCAGCTC	0.647													A	11052983	G	A	11052983	3	1	248	1	0	0	0	0	1	0	0	0	8026	1087	38	1	433	1	KCNF1	2	11052983	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	492829	11052983	232146390	203	122210											
PQLC3	130814	broad.mit.edu	37	chr2	11300785	11300785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtatctttcattttaaCgggaacgtgaagcaggccac	9	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:11300785C>T	uc002rbc.2	+	3	394	c.261C>T	c.(259-261)AAC>AAT	p.N87N	PQLC3_uc010yjk.1_Silent_p.N87N	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	87						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTCATTTTAACGGGAACGTGA	0.517													T	11300785	C	T	11300785	2	4	248	1	0	0	0	0	0	0	0	1	12420	535	19	1		1	PQLC3	2	11300785	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	247802	11300785	231898588	204	122211											
LPIN1	23175	broad.mit.edu	37	chr2	11959685	11959685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacctgtttttccccaaCacagaacccttttatgctgc	4	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:11959685C>A	uc010yjn.1	+	19	2644	c.2370C>A	c.(2368-2370)AAC>AAA	p.N790K	LPIN1_uc010yjm.1_Missense_Mutation_p.N875K|LPIN1_uc002rbt.2_Missense_Mutation_p.N790K|LPIN1_uc010yjo.1_Missense_Mutation_p.N291K	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	790	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTTTCCCCAACACAGAACCCT	0.378													A	11959685	C	A	11959685	3	1	248	1	0	0	0	0	1	0	0	0	8918	477	17	5	2436	5	LPIN1	2	11959685	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	658900	11959685	231239688	205	122212											
NBAS	51594	broad.mit.edu	37	chr2	15618355	15618356	+	Frame_Shift_Ins	INS	-	-	T													ttcgtagaactcacctttgaINSttttttttctcttctcagta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:15618355_15618356insT	uc002rcc.1	-	13	1167_1168	c.1141_1142insA	c.(1141-1143)ATCfs	p.I381fs	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	381										ovary(2)|liver(1)|skin(1)	4						CTCACCTTTGATTTTTTTTCTC	0.317													T	15618356	-	T	15618355	7	5	248	1	0	1	1	0	0	0	0	0	10186	333	12	0	6133	0	NBAS	2	15618355	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	3658670	15618355	227581018	206	122213	630	2									
NBAS	51594	broad.mit.edu	37	chr2	15618356	15618357	+	Frame_Shift_Ins	INS	-	-	T													tcgtagaactcacctttgatINStttttttctcttctcagtag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:15618355_15618356A>AT	uc002rcc.1	-	12	1167_1168	c.1141_1142T>AT	c.(1141-1143)atcfs	p.I381fs	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	381								p.I381fs*4(2)		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						CTCACCTTTGATTTTTTTTCTC	0.317													T	15618357	-	T	15618356	7	5	248	1	0	1	1	0	0	0	0	0	10186	1493	52	0	6134	0	NBAS	2	15618356	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	15618356	227581017	207	122214	630	2									
SMC6	79677	broad.mit.edu	37	chr2	17860182	17860182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttccacaataggcccGctgagatagtaagttgtcaa	8	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:17860182G>A	uc002rco.2	-	25	3150	c.2854C>T	c.(2854-2856)CGG>TGG	p.R952W	SMC6_uc010exo.2_Missense_Mutation_p.R952W|SMC6_uc002rcn.2_Missense_Mutation_p.R952W	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	952					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAATAGGCCCGCTGAGATAGT	0.303													A	17860182	G	A	17860182	3	1	248	1	0	0	0	0	1	0	0	0	14787	1086	38	1	437	1	SMC6	2	17860182	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2241826	17860182	225339191	208	122215											
APOB	338	broad.mit.edu	37	chr2	21255320	21255320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctgctgtgctgagggctCggggatcagggccaccaggt	17	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:21255320C>T	uc002red.2	-	10	1386	c.1258G>A	c.(1258-1260)GAG>AAG	p.E420K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	420	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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTGAGGGCTCGGGGATCAGG	0.592													T	21255320	C	T	21255320	3	4	248	1	0	0	0	0	1	0	0	0	785	893	31	1	12513	1	APOB	2	21255320	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3395138	21255320	221944053	209	122216											
C2orf44	80304	broad.mit.edu	37	chr2	24262143	24262143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacagcgagtagaacAggtgtatcatctgcaacagg	13	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:24262143A>G	uc002rep.2	-	2	353	c.222T>C	c.(220-222)CCT>CCC	p.P74P	C2orf44_uc010eya.2_Silent_p.P74P	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	74	WD 1.						protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGTAGAACAGGTGTATCAT	0.517													G	24262143	A	G	24262143	2	3	248	1	0	0	0	0	0	0	0	1	2168	175	7	3		3	C2orf44	2	24262143	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3006823	24262143	218937230	210	122217											
NCOA1	8648	broad.mit.edu	37	chr2	24980874	24980874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtccagaaccagcccaCgcctgcacagccaggagtat	10	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:24980874C>T	uc002rfk.2	+	19	4172	c.3914C>T	c.(3913-3915)ACG>ATG	p.T1305M	NCOA1_uc010eye.2_Missense_Mutation_p.T1305M|NCOA1_uc002rfi.2_Missense_Mutation_p.T1154M|NCOA1_uc002rfj.2_Missense_Mutation_p.T1305M|NCOA1_uc002rfl.2_Missense_Mutation_p.T1305M|NCOA1_uc010eyf.2_Missense_Mutation_p.T198M	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1305									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGCCCACGCCTGCACAG	0.453			T	PAX3	alveolar rhadomyosarcoma								T	24980874	C	T	24980874	3	4	248	1	0	0	0	0	1	0	0	0	10228	536	19	1	3980	1	NCOA1	2	24980874	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	718731	24980874	218218499	211	122218											
DNMT3A	1788	broad.mit.edu	37	chr2	25462049	25462049	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcgggccctgtgtgcagcTgacacttctttggcatcaat	11	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:25462049T>C	uc002rgc.2	-	20	2615	c.2358A>G	c.(2356-2358)TCA>TCG	p.S786S	DNMT3A_uc002rgd.2_Silent_p.S786S|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.S597S	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	786					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTGCAGCTGACACTTCTT	0.572			Mis|F|N|S		AML								C	25462049	T	C	25462049	2	2	248	1	0	0	0	0	0	0	0	1	4676	1567	55	3		3	DNMT3A	2	25462049	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	481175	25462049	217737324	212	122219											
DNMT3A	1788	broad.mit.edu	37	chr2	25497874	25497874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtagtaggggtcccccGcctggaaggtgagcctcggc	16	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:25497874G>A	uc002rgc.2	-	6	832	c.575C>T	c.(574-576)GCG>GTG	p.A192V	DNMT3A_uc002rgd.2_Missense_Mutation_p.A192V|DNMT3A_uc010eyi.2_RNA	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	192					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCCCCGCCTGGAAGGT	0.697			Mis|F|N|S		AML								A	25497874	G	A	25497874	3	1	248	1	0	0	0	0	1	0	0	0	4676	1087	38	1	2315	1	DNMT3A	2	25497874	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	35825	25497874	217701499	213	122220											
EMILIN1	11117	broad.mit.edu	37	chr2	27302084	27302084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcccagattgcccccCggccagccagccgccacagg	11	21	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27302084C>T	uc002rii.3	+	1	579	c.151C>T	c.(151-153)CGG>TGG	p.R51W	EMILIN1_uc010eyq.1_Missense_Mutation_p.R51W	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	51					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTGCCCCCCGGCCAGCCAG	0.677													T	27302084	C	T	27302084	3	4	248	1	0	0	0	0	1	0	0	0	5093	643	23	1	153	1	EMILIN1	2	27302084	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1804210	27302084	215897289	214	122221											
CAD	790	broad.mit.edu	37	chr2	27445143	27445143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagaatggaacagaacCttcatccctgccattcttgg	9	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27445143C>A	uc002rji.2	+	4	596	c.434C>A	c.(433-435)CCT>CAT	p.P145H	CAD_uc010eyw.2_Missense_Mutation_p.P145H	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	145	GATase (Glutamine amidotransferase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGAACAGAACCTTCATCCCTG	0.547													A	27445143	C	A	27445143	3	1	248	1	0	0	0	0	1	0	0	0	2565	681	24	5	448	5	CAD	2	27445143	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	143059	27445143	215754230	215	122222											
GTF3C2	2976	broad.mit.edu	37	chr2	27558815	27558815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctggaagttcccatgctCcactggggcagaacttgagg	13	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27558815C>T	uc002rjv.1	-	10	1799	c.1436G>A	c.(1435-1437)GGA>GAA	p.G479E	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.G490E|GTF3C2_uc002rjw.1_Missense_Mutation_p.G479E|GTF3C2_uc010eyz.1_Missense_Mutation_p.G479E|uc002rjy.1_Intron	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	479	WD 1.					transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCATGCTCCACTGGGGCA	0.562													T	27558815	C	T	27558815	3	4	248	1	0	0	0	0	1	0	0	0	6873	855	30	4	1343	4	GTF3C2	2	27558815	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	113672	27558815	215640558	216	122223											
GTF3C2	2976	broad.mit.edu	37	chr2	27565828	27565828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagctctgccttggactttCgacctcgtttcttaggcatg	10	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27565828C>T	uc002rjv.1	-	4	797	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	GTF3C2_uc002rju.1_Missense_Mutation_p.R156Q|GTF3C2_uc002rjw.1_Missense_Mutation_p.R145Q|GTF3C2_uc010eyz.1_Missense_Mutation_p.R145Q	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	145						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGACTTTCGACCTCGTTT	0.532													T	27565828	C	T	27565828	3	4	248	1	0	0	0	0	1	0	0	0	6873	884	31	1	2369	1	GTF3C2	2	27565828	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7013	27565828	215633545	217	122224											
WDR43	23160	broad.mit.edu	37	chr2	29117732	29117732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtacgtgccttccgcGcacctcagtggtacctgcac	11	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:29117732G>A	uc002rmo.2	+	1	200	c.168G>A	c.(166-168)GCG>GCA	p.A56A		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	56						nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGCCTTCCGCGCACCTCAGTG	0.677													A	29117732	G	A	29117732	2	1	248	1	0	0	0	0	0	0	0	1	17292	1074	38	1		1	WDR43	2	29117732	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1551904	29117732	214081641	218	122225											
BIRC6	57448	broad.mit.edu	37	chr2	32641161	32641161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaaaaaggagggcacTgaggaacaggacacatttgt	11	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:32641161T>C	uc010ezu.2	+	10	2936	c.2802T>C	c.(2800-2802)ACT>ACC	p.T934T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	934					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGGAGGGCACTGAGGAACAGG	0.413													C	32641161	T	C	32641161	2	2	248	1	0	0	0	0	0	0	0	1	1438	1567	55	3		3	BIRC6	2	32641161	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3523429	32641161	210558212	219	122226											
STRN	6801	broad.mit.edu	37	chr2	37096869	37096872	+	Splice_Site	DEL	CTAT	CTAT	-													caatgcatctttattgtttgCtatctattaaagaaacaaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:37096868_37096871GCTAT>G	uc002rpn.3	-	11	1333	c.1324_splice	c.e11-1	p.I442_splice	STRN_uc010ezx.3_Splice_Site_p.I405_splice	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	442					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTTATTGTTTGCTATCTATTAAAG	0.368													-	37096872	CTAT	-	37096869	8	5	248	1	0	1	0	1	0	0	1	0	15328	797	28	0	1047	0	STRN	2	37096869	Splice_Site	DEL	CTAT	TCGA-FP-A4BE-01A-12D-A24D-08	4455708	37096869	206102504	220	122227											
CEBPZ	10153	broad.mit.edu	37	chr2	37439103	37439103	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttcatcgtcatccaggtTaccaagttcatcatcactac	4	13	5	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:37439103T>C	uc002rpz.2	-	12	2713	c.2683A>G	c.(2683-2685)AAC>GAC	p.N895D		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	895					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TCATCCAGGTTACCAAGTTCA	0.363													C	37439103	T	C	37439103	3	2	248	1	0	0	0	0	1	0	0	0	3204	1754	61	3	501	3	CEBPZ	2	37439103	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	342234	37439103	205760270	221	122228											
SOS1	6654	broad.mit.edu	37	chr2	39222340	39222340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaagcaccagaagcaggCggaggtgttaacggtgttct	15	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:39222340C>T	uc002rrk.3	-	20	3311	c.3270G>A	c.(3268-3270)CCG>CCA	p.P1090P	SOS1_uc002rrj.3_Silent_p.P704P	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1090					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				CAGAAGCAGGCGGAGGTGTTA	0.438									Noonan_syndrome				T	39222340	C	T	39222340	2	4	248	1	0	0	0	0	0	0	0	1	14936	755	27	1		1	SOS1	2	39222340	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1783237	39222340	203977033	222	122229											
PRKCE	5581	broad.mit.edu	37	chr2	46228617	46228617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggatgccagaggaatcGccaaagtactggccgacctg	14	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:46228617G>A	uc002rut.2	+	7	1095	c.898G>A	c.(898-900)GCC>ACC	p.A300T		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	300					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	p.A300T(1)		lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGAGGAATCGCCAAAGTACT	0.522													A	46228617	G	A	46228617	3	1	248	1	0	0	0	0	1	0	0	0	12511	1087	38	1	924	1	PRKCE	2	46228617	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7006277	46228617	196970756	223	122230											
NRXN1	9378	broad.mit.edu	37	chr2	50149258	50149258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacttgtacatggcatAgaggaggataaggatgcaca	12	6	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:50149258A>G	uc010fbp.2	-	6	1960	c.1153T>C	c.(1153-1155)TAT>CAT	p.Y385H	NRXN1_uc002rxb.3_Missense_Mutation_p.Y1119H|NRXN1_uc010fbq.2_Missense_Mutation_p.Y1490H|NRXN1_uc002rxe.3_Missense_Mutation_p.Y1420H|NRXN1_uc010yon.1_Missense_Mutation_p.Y85H|NRXN1_uc002rxa.3_Missense_Mutation_p.Y82H	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	385	Helical; (Potential).			Y -> C (in Ref. 1; AF064842).	angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACATGGCATAGAGGAGGATA	0.537													G	50149258	A	G	50149258	3	3	248	1	0	0	0	0	1	0	0	0	10665	420	15	3	179	3	NRXN1	2	50149258	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3920641	50149258	193050115	224	122231											
PSME4	23198	broad.mit.edu	37	chr2	54122748	54122748	+	Frame_Shift_Del	DEL	T	T	-													ggtgtagtatccccagtgagTtttttccacaaagcaacttg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:54122747_54122747GT>G	uc002rxp.2	-	32	3871	c.3815_3815AC>C	c.(3814-3816)actfs	p.T1272fs	PSME4_uc010yop.1_Frame_Shift_Del_p.T1158fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Frame_Shift_Del_p.T647fs|PSME4_uc010fbv.1_Frame_Shift_Del_p.T416fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1272					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCCCCAGTGAGTTTTTTCCAC	0.373													-	54122748	T	-	54122748	7	5	248	1	0	1	0	1	0	0	0	0	12709	1725	60	0	1773	0	PSME4	2	54122748	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	3973490	54122748	189076625	225	122232											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167141	+	Splice_Site	INS	-	-	G													gaatattttctacagaactgINSgggggggaaagccatttgat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:54167139_54167140T>TG	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		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)			TCTACAGAACTGGGGGGGGAAA	0.347													G	54167141	-	G	54167140	8	5	248	1	0	1	1	0	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	44392	54167140	189032233	226	122233											
CCDC88A	55704	broad.mit.edu	37	chr2	55561248	55561248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcacgtagtgtaaccaaCgtttttatatcaatagttgc	6	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55561248C>T	uc002ryv.2	-	15	3551	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	CCDC88A_uc010yoz.1_Silent_p.T903T|CCDC88A_uc010ypa.1_Silent_p.T903T|CCDC88A_uc010ypb.1_Silent_p.T805T|CCDC88A_uc002ryu.2_Silent_p.T186T|CCDC88A_uc002ryw.2_Silent_p.T186T	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	903	Potential.				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			ovary(2)|skin(2)	4						GTGTAACCAACGTTTTTATAT	0.279													T	55561248	C	T	55561248	2	4	248	1	0	0	0	0	0	0	0	1	2863	523	19	1		1	CCDC88A	2	55561248	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1394108	55561248	187638125	227	122234											
CCDC88A	55704	broad.mit.edu	37	chr2	55561544	55561544	+	Frame_Shift_Del	DEL	T	T	-													ttctagtcttttgctagataTttttagttcttctaggtttt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55561544delT	uc002ryv.2	-	15	3255	c.2413delA	c.(2413-2415)ATAfs	p.I805fs	CCDC88A_uc010yoz.1_Frame_Shift_Del_p.I805fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.I805fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.I707fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.I88fs|CCDC88A_uc002ryw.2_Frame_Shift_Del_p.I88fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	805	Potential.				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			ovary(2)|skin(2)	4						TTGCTAGATATTTTTAGTTCT	0.318													-	55561544	T	-	55561544	7	5	248	1	0	1	0	1	0	0	0	0	2863	1493	52	0	3274	0	CCDC88A	2	55561544	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	296	55561544	187637829	228	122235											
CCDC104	112942	broad.mit.edu	37	chr2	55771155	55771155	+	Frame_Shift_Del	DEL	A	A	-													tgaaacttcctccctcccacAaaaagacctgaagattcctg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55771154_55771154CA>C	uc002ryx.2	+	8	994	c.796_796CA>C	c.(796-798)caafs	p.Q266fs	CCDC104_uc002ryy.2_Frame_Shift_Del_p.Q241fs	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	241										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCCTCCCACAAAAAGACCT	0.388													-	55771155	A	-	55771155	7	5	248	1	0	1	0	1	0	0	0	0	2739	130	5	0	752	0	CCDC104	2	55771155	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	209611	55771155	187428218	229	122236											
SMEK2	57223	broad.mit.edu	37	chr2	55813848	55813848	+	Frame_Shift_Del	DEL	C	C	-													gtaatgtctgagaaaatgcaCaaaactccttgaaaaaatta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55813847_55813847AC>A	uc002rzc.3	-	5	1715	c.1023_1023GT>T	c.(1021-1023)tgtfs	p.C341fs	SMEK2_uc002rzb.3_Frame_Shift_Del_p.C341fs|SMEK2_uc002rzd.3_Frame_Shift_Del_p.C341fs|SMEK2_uc002rza.3_Frame_Shift_Del_p.C217fs	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	341						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGAAAATGCACAAAACTCCT	0.333													-	55813848	C	-	55813848	7	5	248	1	0	1	0	1	0	0	0	0	14794	478	17	0	1575	0	SMEK2	2	55813848	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	42693	55813848	187385525	230	122237											
PAPOLG	64895	broad.mit.edu	37	chr2	61014116	61014116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctaaaatccgtgtacttGttggaaacttggaacggaat	9	6	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:61014116G>A	uc002sai.2	+	14	1432	c.1201G>A	c.(1201-1203)GTT>ATT	p.V401I	PAPOLG_uc002saj.2_Missense_Mutation_p.V90I|PAPOLG_uc002sak.2_5'UTR|PAPOLG_uc010fch.2_Missense_Mutation_p.V90I	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	401					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CCGTGTACTTGTTGGAAACTT	0.333													A	61014116	G	A	61014116	3	1	248	1	0	0	0	0	1	0	0	0	11431	1377	48	4	1255	4	PAPOLG	2	61014116	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5200268	61014116	182185257	231	122238											
SPRED2	200734	broad.mit.edu	37	chr2	65541259	65541259	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgcgcacgatctcctcGtcgtcgtccgggaagctcac	11	14	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:65541259G>C	uc002sdr.3	-	6	1168	c.633C>G	c.(631-633)GAC>GAG	p.D211E	SPRED2_uc010fcw.2_Missense_Mutation_p.D208E	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	211	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						CGATCTCCTCGTCGTCGTCCG	0.602													C	65541259	G	C	65541259	3	2	248	1	0	0	0	0	1	0	0	0	15092	1136	40	5	627	5	SPRED2	2	65541259	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4527143	65541259	177658114	232	122239											
FBXO48	554251	broad.mit.edu	37	chr2	68691370	68691370	+	Frame_Shift_Del	DEL	C	C	-													cagttctgcttctagaatttCcccccatgtatctgcatcca					rs36078393		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:68691369_68691369TC>T	uc002seo.3	-	3	848	c.440_440GA>A	c.(439-441)gaafs	p.E147fs		NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGT	0.388													-	68691370	C	-	68691370	7	5	248	1	0	1	0	1	0	0	0	0	5757	864	30	0	32	0	FBXO48	2	68691370	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	3150111	68691370	174508003	233	122240											
C2orf42	54980	broad.mit.edu	37	chr2	70408715	70408715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaccgccagcttgatgtGctggcactggttttccacaa	10	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:70408715G>A	uc002sgh.2	-	3	731	c.403C>T	c.(403-405)CAC>TAC	p.H135Y		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	135											0						AGCTTGATGTGCTGGCACTGG	0.577													A	70408715	G	A	70408715	3	1	248	1	0	0	0	0	1	0	0	0	2166	1319	46	2	1353	2	C2orf42	2	70408715	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1717345	70408715	172790658	234	122241											
C2orf42	54980	broad.mit.edu	37	chr2	70408874	70408874	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcggtaatcagggccccGgtctctttgccgcactgagt	12	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:70408874G>T	uc002sgh.2	-	3	572	c.244C>A	c.(244-246)CGG>AGG	p.R82R		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	82											0						TCAGGGCCCCGGTCTCTTTGC	0.527													T	70408874	G	T	70408874	2	4	248	1	0	0	0	0	0	0	0	1	2166	1115	39	5		5	C2orf42	2	70408874	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	159	70408874	172790499	235	122242											
ZNF638	27332	broad.mit.edu	37	chr2	71576484	71576484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcccaaagtacagagcCgctatacaaaagagagtgcc	10	10	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:71576484C>T	uc002shx.2	+	2	719	c.400C>T	c.(400-402)CGC>TGC	p.R134C	ZNF638_uc010fec.2_Missense_Mutation_p.R240C|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R134C|ZNF638_uc002shy.2_Missense_Mutation_p.R134C|ZNF638_uc002shz.2_Missense_Mutation_p.R134C|ZNF638_uc002sia.2_Missense_Mutation_p.R134C|ZNF638_uc002sib.1_Missense_Mutation_p.R134C	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	134					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AGTACAGAGCCGCTATACAAA	0.438													T	71576484	C	T	71576484	3	4	248	1	0	0	0	0	1	0	0	0	18052	652	23	1	402	1	ZNF638	2	71576484	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1167610	71576484	171622889	236	122243											
DYSF	8291	broad.mit.edu	37	chr2	71892324	71892324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggcgggaccagctccGcccctcccagctcctccacc	9	22	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:71892324G>A	uc002sie.2	+	46	5466	c.5090G>A	c.(5089-5091)CGC>CAC	p.R1697H	DYSF_uc010feg.2_Missense_Mutation_p.R1728H|DYSF_uc010feh.2_Missense_Mutation_p.R1704H|DYSF_uc002sig.3_Missense_Mutation_p.R1683H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1718H|DYSF_uc010fef.2_Missense_Mutation_p.R1735H|DYSF_uc010fei.2_Missense_Mutation_p.R1714H|DYSF_uc010fek.2_Missense_Mutation_p.R1715H|DYSF_uc010fej.2_Missense_Mutation_p.R1705H|DYSF_uc010fel.2_Missense_Mutation_p.R1684H|DYSF_uc010feo.2_Missense_Mutation_p.R1729H|DYSF_uc010fem.2_Missense_Mutation_p.R1719H|DYSF_uc010fen.2_Missense_Mutation_p.R1736H|DYSF_uc002sif.2_Missense_Mutation_p.R1698H|DYSF_uc010yqy.1_Missense_Mutation_p.R578H|DYSF_uc010yqz.1_Missense_Mutation_p.R458H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1697	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GACCAGCTCCGCCCCTCCCAG	0.542													A	71892324	G	A	71892324	3	1	248	1	0	0	0	0	1	0	0	0	4859	1087	38	1	5531	1	DYSF	2	71892324	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	315840	71892324	171307049	237	122244											
DYSF	8291	broad.mit.edu	37	chr2	71909728	71909728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagttcatcctgtggcggcGtttccggtgggccatcatcc	13	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:71909728G>A	uc002sie.2	+	54	6501	c.6125G>A	c.(6124-6126)CGT>CAT	p.R2042H	DYSF_uc010feg.2_Missense_Mutation_p.R2073H|DYSF_uc010feh.2_Missense_Mutation_p.R2049H|DYSF_uc002sig.3_Missense_Mutation_p.R2028H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R2063H|DYSF_uc010fef.2_Missense_Mutation_p.R2080H|DYSF_uc010fei.2_Missense_Mutation_p.R2059H|DYSF_uc010fek.2_Missense_Mutation_p.R2060H|DYSF_uc010fej.2_Missense_Mutation_p.R2050H|DYSF_uc010fel.2_Missense_Mutation_p.R2029H|DYSF_uc010feo.2_Missense_Mutation_p.R2074H|DYSF_uc010fem.2_Missense_Mutation_p.R2064H|DYSF_uc010fen.2_Missense_Mutation_p.R2081H|DYSF_uc002sif.2_Missense_Mutation_p.R2043H|DYSF_uc010yqy.1_Missense_Mutation_p.R923H|DYSF_uc010yqz.1_Missense_Mutation_p.R803H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	2042	Cytoplasmic (Potential).		R -> C (in MMD1, LGMD2B and proximodistal myopathy).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CTGTGGCGGCGTTTCCGGTGG	0.522													A	71909728	G	A	71909728	3	1	248	1	0	0	0	0	1	0	0	0	4859	1145	40	1	6598	1	DYSF	2	71909728	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	17404	71909728	171289645	238	122245											
SMYD5	10322	broad.mit.edu	37	chr2	73446046	73446046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaccatcttcgtagaaCggcccctggtggctgcacag	14	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:73446046C>T	uc002siw.2	+	2	183	c.154C>T	c.(154-156)CGG>TGG	p.R52W	SMYD5_uc010yre.1_Translation_Start_Site	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	52							metal ion binding				0						CTTCGTAGAACGGCCCCTGGT	0.542													T	73446046	C	T	73446046	3	4	248	1	0	0	0	0	1	0	0	0	14825	527	19	1	160	1	SMYD5	2	73446046	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1536318	73446046	169753327	239	122246											
SMYD5	10322	broad.mit.edu	37	chr2	73449013	73449013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtaacaaaacagccaaTgaagaggaggaaattgtcca	9	6	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:73449013T>C	uc002siw.2	+	6	626	c.597T>C	c.(595-597)AAT>AAC	p.N199N	SMYD5_uc010yre.1_Silent_p.N83N|SMYD5_uc002six.1_5'Flank	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	199							metal ion binding				0						AAACAGCCAATGAAGAGGAGG	0.453													C	73449013	T	C	73449013	2	2	248	1	0	0	0	0	0	0	0	1	14825	1461	51	3		3	SMYD5	2	73449013	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	2967	73449013	169750360	240	122247											
DCTN1	1639	broad.mit.edu	37	chr2	74593976	74593976	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctggcattcgccttcggatCttcttgcagaactggcggat	11	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:74593976C>A	uc002skx.2	-	21	2711	c.2400G>T	c.(2398-2400)AAG>AAT	p.K800N	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.K666N|DCTN1_uc002sku.2_Missense_Mutation_p.K666N|DCTN1_uc002skw.1_Missense_Mutation_p.K776N|DCTN1_uc010ffd.2_Missense_Mutation_p.K780N|DCTN1_uc002sky.2_Missense_Mutation_p.K763N	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	800					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCCTTCGGATCTTCTTGCAGA	0.547													A	74593976	C	A	74593976	3	1	248	1	0	0	0	0	1	0	0	0	4306	912	32	5	1484	5	DCTN1	2	74593976	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1144963	74593976	168605397	241	122248											
PCGF1	84759	broad.mit.edu	37	chr2	74733085	74733085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccttctcctcacctcagcCgctccaggcacaggttcaac	7	18	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:74733085C>T	uc002slz.2	-	5	550	c.524G>A	c.(523-525)CGG>CAG	p.R175Q	LBX2_uc002slw.2_5'Flank|PCGF1_uc002sly.2_Missense_Mutation_p.R92Q	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	175					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			ovary(1)	1						TCACCTCAGCCGCTCCAGGCA	0.592													T	74733085	C	T	74733085	3	4	248	1	0	0	0	0	1	0	0	0	11574	652	23	1	275	1	PCGF1	2	74733085	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	139109	74733085	168466288	242	122249											
CAPG	822	broad.mit.edu	37	chr2	85628410	85628410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgatggcagctggggCtcctgtggaggtcttgtgaa	15	7	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:85628410C>T	uc002spl.1	-	5	644	c.394G>A	c.(394-396)GCC>ACC	p.A132T	CAPG_uc002spm.1_Missense_Mutation_p.A132T|CAPG_uc010ysq.1_Missense_Mutation_p.A132T|CAPG_uc010fgi.1_Missense_Mutation_p.A132T|CAPG_uc010fgj.1_Missense_Mutation_p.A26T	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	132					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						GCAGCTGGGGCTCCTGTGGAG	0.592													T	85628410	C	T	85628410	3	4	248	1	0	0	0	0	1	0	0	0	2621	797	28	2	676	2	CAPG	2	85628410	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10895325	85628410	157570963	243	122250											
MRPS5	64969	broad.mit.edu	37	chr2	95753233	95753233	+	Frame_Shift_Del	DEL	G	G	-													atccttcctcaagggcccccGgggggacgcaaccacaatgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:95753233delG	uc002sub.2	-	12	1380	c.1162delC	c.(1162-1164)CGGfs	p.R388fs	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	388					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						AAGGGCCCCCGGGGGGACGCA	0.557													-	95753233	G	-	95753233	7	5	248	1	0	1	0	1	0	0	0	0	9846	1115	39	0	134	0	MRPS5	2	95753233	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	10124823	95753233	147446140	244	122251											
NCAPH	23397	broad.mit.edu	37	chr2	97025921	97025921	+	Frame_Shift_Del	DEL	A	A	-													gaaaacaaaaagaagagtacAaaaaaagattttgaaattga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:97025920_97025920CA>C	uc002svz.1	+	10	1481	c.1397_1397CA>C	c.(1396-1398)acafs	p.T466fs	NCAPH_uc010fhv.1_Frame_Shift_Del_p.T455fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.T442fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.T330fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	466					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAGAAGAGTACAAAAAAAGAT	0.328													-	97025921	A	-	97025921	7	5	248	1	0	1	0	1	0	0	0	0	10209	117	5	0	1440	0	NCAPH	2	97025921	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	1272688	97025921	146173452	245	122252											
ZAP70	7535	broad.mit.edu	37	chr2	98341694	98341694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaaactttactctggggCgcagaccgacggcaagttcc	12	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:98341694C>T	uc002syd.1	+	4	749	c.542C>T	c.(541-543)GCG>GTG	p.A181V	ZAP70_uc010yvf.1_Missense_Mutation_p.A181V|ZAP70_uc002sye.1_Missense_Mutation_p.A71V	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	181	SH2 2.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TACTCTGGGGCGCAGACCGAC	0.642													T	98341694	C	T	98341694	3	4	248	1	0	0	0	0	1	0	0	0	17511	768	27	1	548	1	ZAP70	2	98341694	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1315773	98341694	144857679	246	122253											
ZAP70	7535	broad.mit.edu	37	chr2	98355903	98355903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgttactacagcctggCcagcaaggtggaagggcccc	13	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:98355903C>T	uc002syd.1	+	14	2009	c.1802C>T	c.(1801-1803)GCC>GTC	p.A601V	ZAP70_uc002sye.1_Missense_Mutation_p.A491V|ZAP70_uc002syf.1_Missense_Mutation_p.A294V	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	601					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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TACAGCCTGGCCAGCAAGGTG	0.682													T	98355903	C	T	98355903	3	4	248	1	0	0	0	0	1	0	0	0	17511	739	26	2	1848	2	ZAP70	2	98355903	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	14209	98355903	144843470	247	122254											
UNC50	25972	broad.mit.edu	37	chr2	99226437	99226438	+	Frame_Shift_Del	DEL	AG	AG	-													aaattttcattatcgaaaacAgacgaaggaccagtgggcca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:99226436_99226437CAG>C	uc010yvl.2	+	1	499_500	c.265_266CAG>C	c.(265-267)cagfs	p.Q89fs	COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Frame_Shift_Del_p.Q72fs|UNC50_uc002szb.3_Frame_Shift_Del_p.Q72fs	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	72					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						TTATCGAAAACAGACGAAGGAC	0.45													-	99226438	AG	-	99226437	7	5	248	1	0	1	0	1	0	0	0	0	16987	188	7	0	217	0	UNC50	2	99226437	Frame_Shift_Del	DEL	AG	TCGA-FP-A4BE-01A-12D-A24D-08	870534	99226437	143972936	248	122255											
REV1	51455	broad.mit.edu	37	chr2	100022487	100022487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttagtatcaggactggtcGgcagatgtgcaggaaaaggt	15	5	1	1	rs149229135		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:100022487G>A	uc002tad.2	-	17	2908	c.2696C>T	c.(2695-2697)CCG>CTG	p.P899L	REV1_uc002tac.2_Missense_Mutation_p.P898L	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	899					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						AGGACTGGTCGGCAGATGTGC	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	100022487	G	A	100022487	3	1	248	1	0	0	0	0	1	0	0	0	13239	1116	39	1	1087	1	REV1	2	100022487	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	796050	100022487	143176886	249	122256											
NCK2	8440	broad.mit.edu	37	chr2	106497812	106497812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgcgcaggaagaccagCgcgcgggatgcgtcccccac	14	15	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:106497812C>T	uc002tdg.2	+	4	697	c.255C>T	c.(253-255)AGC>AGT	p.S85S	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.S85S	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	85					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			ovary(1)|lung(1)	2						GGAAGACCAGCGCGCGGGATG	0.677													T	106497812	C	T	106497812	2	4	248	1	0	0	0	0	0	0	0	1	10220	767	27	1		1	NCK2	2	106497812	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6475325	106497812	136701561	250	122257											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459882	107459882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgccctcctccaacacGtggctccttctctgcctccg	7	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:107459882G>A	uc002tdq.2	-	2	671	c.552C>T	c.(550-552)CAC>CAT	p.H184H	ST6GAL2_uc002tdr.2_Silent_p.H184H|ST6GAL2_uc002tds.3_Silent_p.H184H	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	184	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CCTCCAACACGTGGCTCCTTC	0.647													A	107459882	G	A	107459882	2	1	248	1	0	0	0	0	0	0	0	1	15221	1136	40	1		1	ST6GAL2	2	107459882	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	962070	107459882	135739491	251	122258											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459971	107459971	+	Frame_Shift_Del	DEL	C	C	-													cccctcccgtgggcctggctCcccgggggaagggaatccca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:107459970_107459970TC>T	uc002tdq.3	-	1	583	c.464_464GA>A	c.(463-465)gagfs	p.E155fs	ST6GAL2_uc002tdr.3_Frame_Shift_Del_p.E155fs|ST6GAL2_uc002tds.3_Frame_Shift_Del_p.E155fs	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	155					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.E155E(1)|p.E155fs*19(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						TGGGCCTGGCTCCCCGGGGGA	0.627													-	107459971	C	-	107459971	7	5	248	1	0	1	0	1	0	0	0	0	15221	864	30	0	1233	0	ST6GAL2	2	107459971	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	89	107459971	135739402	252	122259											
EDAR	10913	broad.mit.edu	37	chr2	109513650	109513650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcattcggctagtcttctCgaggcaatcaaatggcagct	11	10	3	0	rs121908456		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:109513650C>T	uc002teq.3	-	12	1491	c.1060G>A	c.(1060-1062)GAG>AAG	p.E354K	EDAR_uc010fjn.2_Missense_Mutation_p.E386K|EDAR_uc010yws.1_Missense_Mutation_p.E386K	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	354	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CTAGTCTTCTCGAGGCAATCA	0.522													T	109513650	C	T	109513650	3	4	248	1	0	0	0	0	1	0	0	0	4905	893	31	1	290	1	EDAR	2	109513650	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2053679	109513650	133685723	253	122260											
SEPT10	151011	broad.mit.edu	37	chr2	110310708	110310708	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctttctcctttactcGctgcacaaacatctgtttca	5	13	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:110310708G>A	uc002tew.2	-	9	1496	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*	SEPT10_uc010ywu.1_Nonsense_Mutation_p.R206*|SEPT10_uc002tex.2_Nonsense_Mutation_p.R350*|SEPT10_uc002tey.2_Nonsense_Mutation_p.R373*|SEPT10_uc010ywv.1_Nonsense_Mutation_p.R239*|SEPT10_uc002tev.1_Nonsense_Mutation_p.R180*|SEPT10_uc010fjo.2_Intron	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	373					cell cycle|cell division	septin complex	GTP binding				0						TCCTTTACTCGCTGCACAAAC	0.368													A	110310708	G	A	110310708	4	1	248	1	0	0	0	0	0	1	0	0	14060	1095	38	1	259	1	SEPT10	2	110310708	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	797058	110310708	132888665	254	122261											
ANAPC1	64682	broad.mit.edu	37	chr2	112539946	112539946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaatcaataatactacCttgaaagcccgggcttcaga	6	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:112539946C>T	uc002thi.2	-	43	5449	c.5202G>A	c.(5200-5202)AAG>AAA	p.K1734K		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1734					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				skin(2)	2						ATAATACTACCTTGAAAGCCC	0.448													T	112539946	C	T	112539946	2	4	248	1	0	0	0	0	0	0	0	1	598	695	24	4		4	ANAPC1	2	112539946	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2229238	112539946	130659427	255	122262											
PAX8	7849	broad.mit.edu	37	chr2	114002179	114002179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctatcactccaggccGgatgctgccagtctcgtagt	10	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:114002179G>A	uc010yxt.1	-	4	380	c.214C>T	c.(214-216)CGG>TGG	p.R72W	PAX8_uc010yxu.1_Missense_Mutation_p.R72W|PAX8_uc010yxv.1_Missense_Mutation_p.R72W|PAX8_uc002tjm.2_Missense_Mutation_p.R72W|PAX8_uc002tjn.2_Missense_Mutation_p.R72W|PAX8_uc010fku.1_Missense_Mutation_p.R72W|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	72	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			ovary(1)|lung(1)	2						ACTCCAGGCCGGATGCTGCCA	0.547			T	PPARG	follicular thyroid		Thyroid dysgenesis 						A	114002179	G	A	114002179	3	1	248	1	0	0	0	0	1	0	0	0	11485	1115	39	1	1049	1	PAX8	2	114002179	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1462233	114002179	129197194	256	122263											
DDX18	8886	broad.mit.edu	37	chr2	118579781	118579781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttattgatgaagctgatcGtatcttggatgtggggtttg	15	3	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:118579781G>A	uc002tlh.1	+	7	1109	c.1010G>A	c.(1009-1011)CGT>CAT	p.R337H		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	337	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						GAAGCTGATCGTATCTTGGAT	0.363													A	118579781	G	A	118579781	3	1	248	1	0	0	0	0	1	0	0	0	4345	1145	40	1	1036	1	DDX18	2	118579781	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4577602	118579781	124619592	257	122264											
EN1	2019	broad.mit.edu	37	chr2	119604427	119604427	+	Frame_Shift_Del	DEL	A	A	-													gcctcaggatgttgtcgatgAaaaagttggtggtgcggtgc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:119604426_119604426GA>G	uc002tlm.3	-	0	1334	c.318_318TC>C	c.(316-318)ttcfs	p.F106fs		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	106					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						TGTTGTCGATGAAAAAGTTGG	0.697													-	119604427	A	-	119604427	7	5	248	1	0	1	0	1	0	0	0	0	5109	246	9	0	869	0	EN1	2	119604427	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	1024646	119604427	123594946	258	122265											
PTPN4	5775	broad.mit.edu	37	chr2	120712837	120712837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggatgaccattccctgCgggagtcaatgatccagcta	10	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:120712837C>T	uc002tmf.1	+	20	2689	c.1918C>T	c.(1918-1920)CGG>TGG	p.R640W	PTPN4_uc010flj.1_Missense_Mutation_p.R353W|PTPN4_uc010yyr.1_Missense_Mutation_p.R273W	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	640						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CCATTCCCTGCGGGAGTCAAT	0.408													T	120712837	C	T	120712837	3	4	248	1	0	0	0	0	1	0	0	0	12790	759	27	1	1992	1	PTPN4	2	120712837	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1108410	120712837	122486536	259	122266											
MKI67IP	84365	broad.mit.edu	37	chr2	122488496	122488496	+	Frame_Shift_Del	DEL	T	T	-													ggaaaatcatagtcaattccTtttttagctaatttcttcct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:122488495_122488495CT>C	uc002tnk.3	-	3	615	c.538_538AG>G	c.(538-540)ggafs	p.G180fs	MKI67IP_uc010fls.3_Frame_Shift_Del_p.G180fs	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA.	180					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TAGTCAATTCCTTTTTTAGCT	0.383													-	122488496	T	-	122488496	7	5	248	1	0	1	0	1	0	0	0	0	9599	1606	56	0	360	0	MKI67IP	2	122488496	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1775659	122488496	120710877	260	122267											
ARHGEF4	50649	broad.mit.edu	37	chr2	131688720	131688720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccctcaccgctcgcccGtcagtgtggatgacctgtgg	12	15	2	1	rs141778984	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:131688720G>A	uc002tsa.1	+	3	710	c.190G>A	c.(190-192)GTC>ATC	p.V64I	ARHGEF4_uc010fmw.1_Missense_Mutation_p.V710I|ARHGEF4_uc002tsb.1_Missense_Mutation_p.V64I|ARHGEF4_uc010fmx.1_Missense_Mutation_p.V64I|ARHGEF4_uc002trz.1_Missense_Mutation_p.V710I	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	64					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			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCGCTCGCCCGTCAGTGTGGA	0.592													A	131688720	G	A	131688720	3	1	248	1	0	0	0	0	1	0	0	0	908	1145	40	1	192	1	ARHGEF4	2	131688720	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9200224	131688720	111510653	261	122268											
ARHGEF4	50649	broad.mit.edu	37	chr2	131785563	131785563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtctgcgctgacgaagTggggagcgaggaggacctgt	18	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:131785563T>C	uc002tsa.1	+	5	993	c.473T>C	c.(472-474)GTG>GCG	p.V158A	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.V158A|ARHGEF4_uc010fmx.1_Missense_Mutation_p.V158A	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	158					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			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCTGACGAAGTGGGGAGCGAG	0.632													C	131785563	T	C	131785563	3	2	248	1	0	0	0	0	1	0	0	0	908	1696	59	3	483	3	ARHGEF4	2	131785563	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	96843	131785563	111413810	262	122269											
YSK4	80122	broad.mit.edu	37	chr2	135743471	135743471	+	Frame_Shift_Del	DEL	T	T	-													aggatctgtttcatttgccaTtttttggcaagagttgttat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:135743470_135743470AT>A	uc002tue.1	-	6	3003	c.2972_2972AT>T	c.(2971-2973)atgfs	p.M991fs	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Frame_Shift_Del_p.M878fs|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Frame_Shift_Del_p.M719fs|YSK4_uc002tui.4_Frame_Shift_Del_p.M1008fs	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	991							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCATTTGCCATTTTTTGGCA	0.368													-	135743471	T	-	135743471	7	5	248	1	0	1	0	1	0	0	0	0	17492	1493	52	0	1031	0	YSK4	2	135743471	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	3957908	135743471	107455902	263	122270											
SPOPL	339745	broad.mit.edu	37	chr2	139318420	139318420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgaagtttttaaagaaAtgatgagattcatttacaca	6	6	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:139318420A>G	uc002tvh.2	+	8	1160	c.760A>G	c.(760-762)ATG>GTG	p.M254V		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	254	BTB.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTTTAAAGAAATGATGAGATT	0.333													G	139318420	A	G	139318420	3	3	248	1	0	0	0	0	1	0	0	0	15084	101	4	3	786	3	SPOPL	2	139318420	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3574949	139318420	103880953	264	122271											
LRP1B	53353	broad.mit.edu	37	chr2	141806629	141806629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactggtggtgtcagcaAagtagatgtaattggtttct	13	4	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:141806629A>G	uc002tvj.1	-	11	2687	c.1715T>C	c.(1714-1716)TTT>TCT	p.F572S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	572	Extracellular (Potential).|LDL-receptor class B 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GGTGTCAGCAAAGTAGATGTA	0.423										TSP Lung(27;0.18)			G	141806629	A	G	141806629	3	3	248	1	0	0	0	0	1	0	0	0	8955	14	1	3	12408	3	LRP1B	2	141806629	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2488209	141806629	101392744	265	122272											
NEB	4703	broad.mit.edu	37	chr2	152404183	152404183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcttcttgacttggcGgatctcaggggtatcgggag	15	7	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:152404183G>A	uc010fnx.2	-	104	15315	c.15124C>T	c.(15124-15126)CGC>TGC	p.R5042C	NEB_uc002txr.2_Missense_Mutation_p.R1465C	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5042	Nebulin 138.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGACTTGGCGGATCTCAGGG	0.443													A	152404183	G	A	152404183	3	1	248	1	0	0	0	0	1	0	0	0	10302	1116	39	1	5663	1	NEB	2	152404183	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	10597554	152404183	90795190	266	122273											
NEB	4703	broad.mit.edu	37	chr2	152468797	152468797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggctggcgatacttcCtgtcactcaggatttctcca	9	13	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:152468797C>A	uc010fnx.2	-	74	11170	c.10979G>T	c.(10978-10980)AGG>ATG	p.R3660M		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3660	Nebulin 100.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCGATACTTCCTGTCACTCAG	0.483													A	152468797	C	A	152468797	3	1	248	1	0	0	0	0	1	0	0	0	10302	681	24	5	14398	5	NEB	2	152468797	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	64614	152468797	90730576	267	122274											
GPD2	2820	broad.mit.edu	37	chr2	157407127	157407127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacagggcaggaatttgaCgtgagagccaaatgtgttat	12	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:157407127C>T	uc002tzf.3	+	8	1200	c.840C>T	c.(838-840)GAC>GAT	p.D280D	GPD2_uc010zch.1_Silent_p.D53D|GPD2_uc002tzd.3_Silent_p.D280D|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	280					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						AGGAATTTGACGTGAGAGCCA	0.438													T	157407127	C	T	157407127	2	4	248	1	0	0	0	0	0	0	0	1	6606	535	19	1		1	GPD2	2	157407127	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4938330	157407127	85792246	268	122275											
PLA2R1	22925	broad.mit.edu	37	chr2	160803953	160803953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttttgcaaaattcatgaGcagcctcaaaactcatactg	5	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:160803953G>A	uc002ube.1	-	26	4034	c.3827C>T	c.(3826-3828)GCT>GTT	p.A1276V	PLA2R1_uc010zcp.1_Missense_Mutation_p.A1276V|PLA2R1_uc002ubf.2_Missense_Mutation_p.A1276V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	1276	Extracellular (Potential).|C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						AAATTCATGAGCAGCCTCAAA	0.353													A	160803953	G	A	160803953	3	1	248	1	0	0	0	0	1	0	0	0	12010	971	34	2	592	2	PLA2R1	2	160803953	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3396826	160803953	82395420	269	122276											
SCN2A	6326	broad.mit.edu	37	chr2	166170516	166170516	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgtggtggccatggcCtatgaggaacagaatcaggc	15	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:166170516C>A	uc002udc.2	+	10	1571	c.1281C>A	c.(1279-1281)GCC>GCA	p.A427A	SCN2A_uc002udd.2_Silent_p.A427A|SCN2A_uc002ude.2_Silent_p.A427A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	427	Helical; Name=S6 of repeat I; (Potential).|I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TGGCCATGGCCTATGAGGAAC	0.433													A	166170516	C	A	166170516	2	1	248	1	0	0	0	0	0	0	0	1	13916	668	24	5		5	SCN2A	2	166170516	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5366563	166170516	77028857	270	122277											
SCN9A	6335	broad.mit.edu	37	chr2	167055471	167055471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacgctgaatgacagtaGcagacacatcctcttgtttc	8	11	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:167055471G>A	uc010fpl.2	-	27	5986	c.5645C>T	c.(5644-5646)GCT>GTT	p.A1882V	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1893	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AATGACAGTAGCAGACACATC	0.388													A	167055471	G	A	167055471	3	1	248	1	0	0	0	0	1	0	0	0	13925	971	34	2	292	2	SCN9A	2	167055471	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	884955	167055471	76143902	271	122278											
SCN9A	6335	broad.mit.edu	37	chr2	167141099	167141099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcattttcccgttcaccGgcagcattggtggggaccta	12	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:167141099G>A	uc010fpl.2	-	12	2179	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.P484L|SCN9A_uc002uds.1_Missense_Mutation_p.P484L|SCN9A_uc002udt.1_Missense_Mutation_p.P484L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCCGTTCACCGGCAGCATTGG	0.587													A	167141099	G	A	167141099	3	1	248	1	0	0	0	0	1	0	0	0	13925	1116	39	1	4159	1	SCN9A	2	167141099	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	85628	167141099	76058274	272	122279											
XIRP2	129446	broad.mit.edu	37	chr2	168102819	168102819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaatttgactaaaactcaAttattaaacagatcaactga	4	6	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:168102819A>G	uc002udx.2	+	8	4935	c.4917A>G	c.(4915-4917)CAA>CAG	p.Q1639Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q1464Q|XIRP2_uc010fpq.2_Silent_p.Q1417Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1464					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTAAAACTCAATTATTAAACA	0.328													G	168102819	A	G	168102819	2	3	248	1	0	0	0	0	0	0	0	1	17427	98	4	3		3	XIRP2	2	168102819	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	961720	168102819	75096554	273	122280											
LRP2	4036	broad.mit.edu	37	chr2	170135890	170135890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatcacttacccaacagtTgggtccacggcaattcctct	6	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:170135890T>C	uc002ues.2	-	12	1770	c.1557A>G	c.(1555-1557)CCA>CCG	p.P519P	LRP2_uc010zdf.1_Silent_p.P519P	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	519	LDL-receptor class B 2.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	ACCCAACAGTTGGGTCCACGG	0.408													C	170135890	T	C	170135890	2	2	248	1	0	0	0	0	0	0	0	1	8956	1799	63	3		3	LRP2	2	170135890	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	2033071	170135890	73063483	274	122281											
MYO3B	140469	broad.mit.edu	37	chr2	171258106	171258106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagacagggctgcggaCgttcgagacgccatgtccaa	13	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:171258106C>T	uc002ufy.2	+	18	2177	c.2034C>T	c.(2032-2034)GAC>GAT	p.D678D	MYO3B_uc002ufv.2_Silent_p.D665D|MYO3B_uc010fqb.1_Silent_p.D665D|MYO3B_uc002ufz.2_Silent_p.D678D|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	678	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GGGCTGCGGACGTTCGAGACG	0.567													T	171258106	C	T	171258106	2	4	248	1	0	0	0	0	0	0	0	1	10077	535	19	1		1	MYO3B	2	171258106	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1122216	171258106	71941267	275	122282											
TTN	7273	broad.mit.edu	37	chr2	179401955	179401955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcacaattggtcctgtaGgtttgtctggtttatctgtt	10	7	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179401955G>A	uc010zfg.1	-	305	92401	c.92177C>T	c.(92176-92178)CCT>CTT	p.P30726L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P24421L|TTN_uc010zfi.1_Missense_Mutation_p.P24354L|TTN_uc010zfj.1_Missense_Mutation_p.P24229L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31653							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCCTGTAGGTTTGTCTGG	0.403													A	179401955	G	A	179401955	3	1	248	1	0	0	0	0	1	0	0	0	16732	1000	35	4	8126	4	TTN	2	179401955	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8143849	179401955	63797418	276	122283											
TTN	7273	broad.mit.edu	37	chr2	179427287	179427287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggttcagacactttaaCgggttctgttgtttcagctg	13	7	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179427287C>T	uc010zfg.1	-	275	76092	c.75868G>A	c.(75868-75870)GTT>ATT	p.V25290I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18985I|TTN_uc010zfi.1_Missense_Mutation_p.V18918I|TTN_uc010zfj.1_Missense_Mutation_p.V18793I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26217							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACACTTTAACGGGTTCTGTT	0.428													T	179427287	C	T	179427287	3	4	248	1	0	0	0	0	1	0	0	0	16732	536	19	1	24555	1	TTN	2	179427287	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	25332	179427287	63772086	277	122284											
TTN	7273	broad.mit.edu	37	chr2	179453422	179453422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcactcttgttgacagggacCcatcgtgttgaatgcttttc	10	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179453422C>A	uc010zfg.1	-	253	55550	c.55326G>T	c.(55324-55326)TGG>TGT	p.W18442C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W12137C|TTN_uc010zfi.1_Missense_Mutation_p.W12070C|TTN_uc010zfj.1_Missense_Mutation_p.W11945C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19369							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGGGACCCATCGTGTTG	0.418													A	179453422	C	A	179453422	3	1	248	1	0	0	0	0	1	0	0	0	16732	624	22	5	45185	5	TTN	2	179453422	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	26135	179453422	63745951	278	122285											
TTN	7273	broad.mit.edu	37	chr2	179501176	179501176	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtttcccaaacgtaAaacacaggtgtattcaccag	6	10	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179501176A>G	uc010zfg.1	-	174	33798	c.33574T>C	c.(33574-33576)TTA>CTA	p.L11192L	TTN_uc010zfh.1_Silent_p.L4887L|TTN_uc010zfi.1_Silent_p.L4820L|TTN_uc010zfj.1_Silent_p.L4695L|TTN_uc010fre.1_Silent_p.L1053L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12119							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAAACGTAAAACACAGGTG	0.383													G	179501176	A	G	179501176	2	3	248	1	0	0	0	0	0	0	0	1	16732	11	1	3		3	TTN	2	179501176	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	47754	179501176	63698197	279	122286											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698689	187698689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctcacgaaatgtaaacGtgtgggaaagatggcagcag	13	7	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:187698689G>A	uc002upu.1	-	6	852	c.812C>T	c.(811-813)ACG>ATG	p.T271M		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	271	ZZ-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAATGTAAACGTGTGGGAAAG	0.363													A	187698689	G	A	187698689	3	1	248	1	0	0	0	0	1	0	0	0	18238	1145	40	1	1105	1	ZSWIM2	2	187698689	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8197513	187698689	55500684	280	122287											
COL5A2	1290	broad.mit.edu	37	chr2	189899729	189899729	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccctttgagaaccacAgcttttttgaggttcttagc	8	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:189899729A>C	uc002uqk.2	-	53	4541	c.4266T>G	c.(4264-4266)GCT>GCG	p.A1422A	COL5A2_uc010frx.2_Silent_p.A998A	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1422	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGAGAACCACAGCTTTTTTGA	0.383													C	189899729	A	C	189899729	2	2	248	1	0	0	0	0	0	0	0	1	3697	175	7	5		5	COL5A2	2	189899729	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2201040	189899729	53299644	281	122288											
STK17B	9262	broad.mit.edu	37	chr2	197021327	197021328	+	Frame_Shift_Ins	INS	-	-	T													gaaattttgcagcatattctINStggccagtagattttgatat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:197021326_197021327C>CT	uc002utk.3	-	2	495_496	c.171_172G>AG	c.(169-174)caagaafs	p.Q57fs	STK17B_uc010fsh.3_Frame_Shift_Ins_p.Q57fs	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	57	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)			GCAGCATATTCTTGGCCAGTAG	0.371													T	197021328	-	T	197021327	7	5	248	1	0	1	1	0	0	0	0	0	15290	1606	56	0	971	0	STK17B	2	197021327	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	7121598	197021327	46178046	282	122289											
SATB2	23314	broad.mit.edu	37	chr2	200213631	200213631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccaggagccggctaacGgcaatctgttggtttatcag	13	9	2	1	rs139350909	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:200213631G>A	uc002uuy.1	-	7	1783	c.966C>T	c.(964-966)GCC>GCT	p.A322A	SATB2_uc010fsq.1_Silent_p.A204A|SATB2_uc002uuz.1_Silent_p.A322A|SATB2_uc002uva.1_Silent_p.A322A|SATB2_uc002uvb.1_Silent_p.A65A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	322						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCGGCTAACGGCAATCTGTT	0.527													A	200213631	G	A	200213631	2	1	248	1	0	0	0	0	0	0	0	1	13854	1103	39	1		1	SATB2	2	200213631	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3192304	200213631	42985742	283	122290											
C2orf60	129450	broad.mit.edu	37	chr2	200801175	200801175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactgaagagtacaacaCgcttttttcctgtcacttgt	9	9	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:200801175C>T	uc002uvi.3	-	6	793	c.527G>A	c.(526-528)CGT>CAT	p.R176H	C2orf60_uc002uvj.3_Missense_Mutation_p.R13H|C2orf60_uc002uvk.3_Intron|C2orf60_uc010fss.2_Missense_Mutation_p.R13H	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	176	JmjC.				wybutosine biosynthetic process		iron ion 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|protein homodimerization activity|tRNA binding				0						GAGTACAACACGCTTTTTTCC	0.289													T	200801175	C	T	200801175	3	4	248	1	0	0	0	0	1	0	0	0	2179	536	19	1	432	1	C2orf60	2	200801175	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	587544	200801175	42398198	284	122291											
ALS2CR11	151254	broad.mit.edu	37	chr2	202438988	202438988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacataaattccacctccaGcctgcagacaaactaaacat	4	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:202438988G>A	uc002uye.2	-	7	745	c.697C>T	c.(697-699)CTG>TTG	p.L233L	ALS2CR11_uc002uyf.2_Silent_p.L233L|ALS2CR11_uc010fti.2_Silent_p.L233L	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	233										large_intestine(1)|ovary(1)|skin(1)	3						TCCACCTCCAGCCTGCAGACA	0.328													A	202438988	G	A	202438988	2	1	248	1	0	0	0	0	0	0	0	1	552	962	34	2		2	ALS2CR11	2	202438988	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1637813	202438988	40760385	285	122292											
ABI2	10152	broad.mit.edu	37	chr2	204281776	204281776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgctgaagaggacccaccGtgggctccacgttcttactt	10	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:204281776G>A	uc002vaa.2	+	10	1573	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P	ABI2_uc002uzz.2_Silent_p.P408P|ABI2_uc010zih.1_Silent_p.P94P|ABI2_uc010zii.1_Silent_p.P440P|ABI2_uc010zij.1_Silent_p.P323P|ABI2_uc002vab.2_Silent_p.P334P|ABI2_uc010zik.1_Silent_p.P171P|ABI2_uc010zil.1_Silent_p.P310P|ABI2_uc010zim.1_Silent_p.P259P|ABI2_uc002vac.2_Silent_p.P232P|ABI2_uc010zin.1_Silent_p.P123P	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	446					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				0						AGGACCCACCGTGGGCTCCAC	0.468													A	204281776	G	A	204281776	2	1	248	1	0	0	0	0	0	0	0	1	89	1132	40	1		1	ABI2	2	204281776	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1842788	204281776	38917597	286	122293											
ABI2	10152	broad.mit.edu	37	chr2	204281787	204281787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccaccgtgggctccacGttcttacttggaaaagggta	12	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:204281787G>A	uc002vaa.2	+	10	1584	c.1349G>A	c.(1348-1350)CGT>CAT	p.R450H	ABI2_uc002uzz.2_Missense_Mutation_p.R412H|ABI2_uc010zih.1_Missense_Mutation_p.R98H|ABI2_uc010zii.1_Missense_Mutation_p.R444H|ABI2_uc010zij.1_Missense_Mutation_p.R327H|ABI2_uc002vab.2_Missense_Mutation_p.R338H|ABI2_uc010zik.1_Missense_Mutation_p.R175H|ABI2_uc010zil.1_Missense_Mutation_p.R314H|ABI2_uc010zim.1_Missense_Mutation_p.R263H|ABI2_uc002vac.2_Missense_Mutation_p.R236H|ABI2_uc010zin.1_Missense_Mutation_p.R127H	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	450					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				0						TGGGCTCCACGTTCTTACTTG	0.458													A	204281787	G	A	204281787	3	1	248	1	0	0	0	0	1	0	0	0	89	1145	40	1	1269	1	ABI2	2	204281787	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	11	204281787	38917586	287	122294											
CPO	130749	broad.mit.edu	37	chr2	207827304	207827304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctcacaccttacggctAcaccaaaaataaatcaagta	3	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:207827304A>G	uc002vby.2	+	7	789	c.743A>G	c.(742-744)TAC>TGC	p.Y248C		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	248					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCTTACGGCTACACCAAAAAT	0.438													G	207827304	A	G	207827304	3	3	248	1	0	0	0	0	1	0	0	0	3820	391	14	3	769	3	CPO	2	207827304	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3545517	207827304	35372069	288	122295											
MAP2	4133	broad.mit.edu	37	chr2	210561275	210561275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccacagatgatgataGgagcatcatgacagaacagt	10	7	1	6			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:210561275G>T	uc002vde.1	+	8	4438	c.4190G>T	c.(4189-4191)AGG>ATG	p.R1397M	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1393M	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1397					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	GATGATGATAGGAGCATCATG	0.343													T	210561275	G	T	210561275	3	4	248	1	0	0	0	0	1	0	0	0	9235	1000	35	5	4208	5	MAP2	2	210561275	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2733971	210561275	32638098	289	122296											
BARD1	580	broad.mit.edu	37	chr2	215646008	215646008	+	Frame_Shift_Del	DEL	T	T	-													ttccagatcttgcagaagccTttttagccctctcagaaaca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:215646007_215646007CT>C	uc002veu.2	-	3	726	c.591_591AG>G	c.(589-591)aagfs	p.K197fs	BARD1_uc021vwe.1_Frame_Shift_Del_p.K178fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.K100fs|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Frame_Shift_Del_p.K53fs|BARD1_uc021vwj.1_Frame_Shift_Del_p.K197fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	197					DNA repair|cell cycle arrest|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	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|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)		TTGCAGAAGCCTTTTTAGCCC	0.378									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				-	215646008	T	-	215646008	7	5	248	1	0	1	0	1	0	0	0	0	1312	1609	56	0	1775	0	BARD1	2	215646008	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	5084733	215646008	27553365	290	122297											
MREG	55686	broad.mit.edu	37	chr2	216809715	216809715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatcaagtgcaatgagAcggtcctgcaaaaacaaaca	9	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:216809715A>G	uc002vfo.2	-	5	812	c.516T>C	c.(514-516)CGT>CGC	p.R172R	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	172						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GTGCAATGAGACGGTCCTGCA	0.463													G	216809715	A	G	216809715	2	3	248	1	0	0	0	0	0	0	0	1	9760	262	10	3		3	MREG	2	216809715	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1163707	216809715	26389658	291	122298											
TNS1	7145	broad.mit.edu	37	chr2	218751288	218751288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagttggggatgccgtgCatgatcacgtggtgcagaaa	14	7	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:218751288C>T	uc002vgt.2	-	11	971	c.573G>A	c.(571-573)ATG>ATA	p.M191I	TNS1_uc002vgr.2_Missense_Mutation_p.M191I|TNS1_uc002vgs.2_Missense_Mutation_p.M191I|TNS1_uc010zjv.1_Missense_Mutation_p.M191I|TNS1_uc010fvj.1_Missense_Mutation_p.M259I|TNS1_uc010fvk.1_Missense_Mutation_p.M316I|TNS1_uc002vgu.3_Missense_Mutation_p.M222I|TNS1_uc010fvi.1_5'Flank	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	191	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		GGATGCCGTGCATGATCACGT	0.522											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	218751288	C	T	218751288	3	4	248	1	0	0	0	0	1	0	0	0	16340	710	25	2	4726	2	TNS1	2	218751288	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1941573	218751288	24448085	292	122299											
RNF25	64320	broad.mit.edu	37	chr2	219529514	219529515	+	Frame_Shift_Ins	INS	-	-	C													agcctcaaggtcaatgattcINSccccccgctcctgctgcctc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:219529513_219529514T>TC	uc002vit.3	-	8	837_838	c.749_750A>GA	c.(748-750)ggafs	p.G250fs	RNF25_uc010fvw.3_Frame_Shift_Ins_p.G138fs	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564													C	219529515	-	C	219529514	7	5	248	1	0	1	1	0	0	0	0	0	13485	855	30	0	638	0	RNF25	2	219529514	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	778226	219529514	23669859	293	122300											
TTLL4	9654	broad.mit.edu	37	chr2	219612393	219612393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtttatgtcacttcctacGatcctctgcggatttacctc	6	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:219612393G>A	uc002viy.2	+	11	2693	c.2323G>A	c.(2323-2325)GAT>AAT	p.D775N	TTLL4_uc010zkl.1_Missense_Mutation_p.D610N|TTLL4_uc010fvx.2_Missense_Mutation_p.D711N|TTLL4_uc010zkm.1_5'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	775	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		CACTTCCTACGATCCTCTGCG	0.468													A	219612393	G	A	219612393	3	1	248	1	0	0	0	0	1	0	0	0	16726	1058	37	1	2357	1	TTLL4	2	219612393	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	82879	219612393	23586980	294	122301											
CCDC108	255101	broad.mit.edu	37	chr2	219883864	219883864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccccgaaattgaagtcaaGccttaaaggggtgaggacgg	15	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:219883864G>T	uc002vjl.1	-	21	3595	c.3511C>A	c.(3511-3513)CTT>ATT	p.L1171I	CCDC108_uc002vjm.3_Missense_Mutation_p.L56I	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1171						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		TTGAAGTCAAGCCTTAAAGGG	0.607													T	219883864	G	T	219883864	3	4	248	1	0	0	0	0	1	0	0	0	2743	971	34	5	2326	5	CCDC108	2	219883864	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	271471	219883864	23315509	295	122302											
PTPRN	5798	broad.mit.edu	37	chr2	220164709	220164709	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggatgcagcccttacttCtgatcagtgacgatgtagcc	10	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:220164709C>A	uc002vkz.2	-	9	1523	c.1434G>T	c.(1432-1434)CAG>CAT	p.Q478H	PTPRN_uc010zlc.1_Missense_Mutation_p.Q388H|PTPRN_uc002vla.2_Missense_Mutation_p.Q478H	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	478	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCCTTACTTCTGATCAGTGA	0.592													A	220164709	C	A	220164709	3	1	248	1	0	0	0	0	1	0	0	0	12807	912	32	5	1565	5	PTPRN	2	220164709	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	280845	220164709	23034664	296	122303											
STK11IP	114790	broad.mit.edu	37	chr2	220471821	220471821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctctgaacccagtgataCggacccggagccccgaactc	9	16	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:220471821C>T	uc002vml.2	+	13	1257	c.1214C>T	c.(1213-1215)ACG>ATG	p.T405M	STK11IP_uc010zll.1_Missense_Mutation_p.T362M|STK11IP_uc002vmm.1_Missense_Mutation_p.T394M	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	405					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		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)		CCCAGTGATACGGACCCGGAG	0.572													T	220471821	C	T	220471821	3	4	248	1	0	0	0	0	1	0	0	0	15287	536	19	1	1264	1	STK11IP	2	220471821	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	307112	220471821	22727552	297	122304											
MOGAT1	116255	broad.mit.edu	37	chr2	223559161	223559161	+	Frame_Shift_Del	DEL	G	G	-													acatctctgtcattgtccttGggggtgcaaaagaatcactg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:223559161delG	uc010fws.1	+	4	607	c.559delG	c.(559-561)GGGfs	p.G187fs	MOGAT1_uc010fwt.1_Frame_Shift_Del_p.G147fs	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	187					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		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)		CATTGTCCTTGGGGGTGCAAA	0.438													-	223559161	G	-	223559161	7	5	248	1	0	1	0	1	0	0	0	0	9694	1348	47	0	573	0	MOGAT1	2	223559161	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	3087340	223559161	19640212	298	122305											
SERPINE2	5270	broad.mit.edu	37	chr2	224866409	224866409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttcttggtcctgccgTccgcccccagctgaagcatc	10	17	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:224866409T>C	uc002vnu.2	-	2	452	c.209A>G	c.(208-210)GAC>GGC	p.D70G	SERPINE2_uc002vnt.2_Missense_Mutation_p.D70G|SERPINE2_uc010zlr.1_Missense_Mutation_p.D82G|SERPINE2_uc002vnv.2_Missense_Mutation_p.D70G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	70					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)|ovary(1)|central_nervous_system(1)	4		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)		GGTCCTGCCGTCCGCCCCCAG	0.557													C	224866409	T	C	224866409	3	2	248	1	0	0	0	0	1	0	0	0	14112	1667	58	3	1019	3	SERPINE2	2	224866409	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1307248	224866409	18332964	299	122306											
COL4A4	1286	broad.mit.edu	37	chr2	227922236	227922236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggaatggccaggtggacCtgggacacctggaaacccag	14	11	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:227922236C>A	uc010zlt.1	-	29	3118	c.2464G>T	c.(2464-2466)GGT>TGT	p.G822C		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	822	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		CCAGGTGGACCTGGGACACCT	0.552													A	227922236	C	A	227922236	3	1	248	1	0	0	0	0	1	0	0	0	3693	681	24	5	2688	5	COL4A4	2	227922236	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3055827	227922236	15277137	300	122307											
COL4A3	1285	broad.mit.edu	37	chr2	228162445	228162445	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccgggcagaaaaggGgccatgggagatgctggacc	17	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:228162445G>T	uc002vom.1	+	42	3783	c.3621G>T	c.(3619-3621)GGG>GGT	p.G1207G	COL4A3_uc002von.1_Silent_p.G1207G|COL4A3_uc002voo.1_Silent_p.G1207G|COL4A3_uc002vop.1_Silent_p.G1207G|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1207	Triple-helical region.		G -> E (in APSAR; in isolated microhematuria at heterozygosity).		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			skin(2)|ovary(1)	3		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)		GCAGAAAAGGGGCCATGGGAG	0.557													T	228162445	G	T	228162445	2	4	248	1	0	0	0	0	0	0	0	1	3691	1219	43	5		5	COL4A3	2	228162445	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	240209	228162445	15036928	301	122308											
TRIP12	9320	broad.mit.edu	37	chr2	230664071	230664071	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctcgttttggcagtcGttttctctttagaacatcac	8	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:230664071G>A	uc002vpw.1	-	21	3119	c.3010C>T	c.(3010-3012)CGA>TGA	p.R1004*	TRIP12_uc002vpx.1_Nonsense_Mutation_p.R1052*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.R734*|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1004					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		TTTGGCAGTCGTTTTCTCTTT	0.398													A	230664071	G	A	230664071	4	1	248	1	0	0	0	0	0	1	0	0	16553	1153	40	1	3052	1	TRIP12	2	230664071	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2501626	230664071	12535302	302	122309											
CAB39	51719	broad.mit.edu	37	chr2	231657993	231657993	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaattggtacgagaactccTactgttgaatacatctgcac	7	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:231657993T>C	uc002vqx.2	+	4	777	c.345T>C	c.(343-345)CCT>CCC	p.P115P	CAB39_uc010fxr.2_Silent_p.P115P|CAB39_uc010fxq.2_Silent_p.P115P	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	115					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CGAGAACTCCTACTGTTGAAT	0.323													C	231657993	T	C	231657993	2	2	248	1	0	0	0	0	0	0	0	1	2525	1509	53	3		3	CAB39	2	231657993	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	993922	231657993	11541380	303	122310											
ITM2C	81618	broad.mit.edu	37	chr2	231742260	231742260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccggcgccgggcaacgcGgaggcgtgagtggctggctt	19	12	0	1	rs150758684		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:231742260G>A	uc002vqz.2	+	5	827	c.707G>A	c.(706-708)CGG>CAG	p.R236Q	ITM2C_uc002vra.2_Missense_Mutation_p.R189Q|ITM2C_uc002vrb.2_Missense_Mutation_p.R199Q|ITM2C_uc002vrc.2_Missense_Mutation_p.R125Q|ITM2C_uc002vrd.2_Missense_Mutation_p.R88Q	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	236					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGGCAACGCGGAGGCGTGAG	0.627													A	231742260	G	A	231742260	3	1	248	1	0	0	0	0	1	0	0	0	7914	1116	39	1	725	1	ITM2C	2	231742260	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	84267	231742260	11457113	304	122311											
DIS3L2	129563	broad.mit.edu	37	chr2	232952237	232952237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaagaaacagaagctgCgtatgaatcagatatccccg	9	9	1	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:232952237C>T	uc010fxz.2	+	6	683	c.407C>T	c.(406-408)GCG>GTG	p.A136V	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.A136V|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	136							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		ACAGAAGCTGCGTATGAATCA	0.418													T	232952237	C	T	232952237	3	4	248	1	0	0	0	0	1	0	0	0	4537	768	27	1	425	1	DIS3L2	2	232952237	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1209977	232952237	10247136	305	122312											
USP40	55230	broad.mit.edu	37	chr2	234463061	234463061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtcacaagttccacAgtggtacaagttgtcacaat	8	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:234463061A>G	uc010zmu.1	-	6	776	c.658T>C	c.(658-660)TGT>CGT	p.C220R	USP40_uc010zmr.1_Missense_Mutation_p.C232R			Q9NVE5	UBP40_HUMAN	SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);	220					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		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)		CAAGTTCCACAGTGGTACAAG	0.408													G	234463061	A	G	234463061	3	3	248	1	0	0	0	0	1	0	0	0	17069	188	7	3	3157	3	USP40	2	234463061	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1510824	234463061	8736312	306	122313											
DNAJB3	414061	broad.mit.edu	37	chr2	234652188	234652189	+	Frame_Shift_Ins	INS	-	-	C													tccccagcagttcctctgacINSccccccaaaatattctccag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:234652187_234652188A>AC	uc002vuz.3	-	0	474_475	c.375_376T>GT	c.(373-378)gggtcafs	p.G125fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	125					protein folding		heat shock protein binding|unfolded protein binding										AGTTCCTCTGACCCCCCCAAAA	0.54													C	234652189	-	C	234652188	7	5	248	1	0	1	1	0	0	0	0	0	4621	494	18	0	66	0	DNAJB3	2	234652188	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	189127	234652188	8547185	307	122314											
SH3BP4	23677	broad.mit.edu	37	chr2	235951624	235951624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggccccgagctgagcacCtcggtgctgctggagcagat	15	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:235951624C>A	uc002vvp.2	+	4	2604	c.2211C>A	c.(2209-2211)ACC>ACA	p.T737T	SH3BP4_uc010fym.2_Silent_p.T737T|SH3BP4_uc002vvq.2_Silent_p.T737T	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	737					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		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)		AGCTGAGCACCTCGGTGCTGC	0.652													A	235951624	C	A	235951624	2	1	248	1	0	0	0	0	0	0	0	1	14246	668	24	5		5	SH3BP4	2	235951624	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1299436	235951624	7247749	308	122315											
COL6A3	1293	broad.mit.edu	37	chr2	238303252	238303252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgtctttaagggtttcCgtgtccccagccctttctgg	11	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:238303252C>T	uc002vwl.2	-	3	972	c.687G>A	c.(685-687)ACG>ACA	p.T229T	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.T229T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	229	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAAGGGTTTCCGTGTCCCCAG	0.488													T	238303252	C	T	238303252	2	4	248	1	0	0	0	0	0	0	0	1	3701	639	23	1		1	COL6A3	2	238303252	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2351628	238303252	4896121	309	122316											
LRRFIP1	9208	broad.mit.edu	37	chr2	238672661	238672661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctttagacagcaatagcCtagagaacgatgacttgtcg	10	8	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:238672661C>A	uc002vxe.2	+	11	2597	c.2305C>A	c.(2305-2307)CTA>ATA	p.L769I	LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.L745I|LRRFIP1_uc002vxf.2_Missense_Mutation_p.L713I	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	769					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CAGCAATAGCCTAGAGAACGA	0.483													A	238672661	C	A	238672661	3	1	248	1	0	0	0	0	1	0	0	0	9027	680	24	5	3023	5	LRRFIP1	2	238672661	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	369409	238672661	4526712	310	122317											
RBM44	375316	broad.mit.edu	37	chr2	238727159	238727159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaagattgtatagatAcacagatggctataacaaaa	8	5	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:238727159A>G	uc002vxi.3	+	3	1732	c.1600A>G	c.(1600-1602)ACA>GCA	p.T534A		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	533							nucleotide binding|RNA binding			ovary(4)	4		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)		TTGTATAGATACACAGATGGC	0.318													G	238727159	A	G	238727159	3	3	248	1	0	0	0	0	1	0	0	0	13138	391	14	3	1606	3	RBM44	2	238727159	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	54498	238727159	4472214	311	122318											
ESPNL	339768	broad.mit.edu	37	chr2	239010707	239010707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgggagggagcccggccGctgcaccacgctgccgtcag	15	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:239010707G>A	uc002vxq.3	+	2	530	c.420G>A	c.(418-420)CCG>CCA	p.P140P		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	140	ANK 5.									pancreas(1)	1		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)		GAGCCCGGCCGCTGCACCACG	0.706													A	239010707	G	A	239010707	2	1	248	1	0	0	0	0	0	0	0	1	5255	1074	38	1		1	ESPNL	2	239010707	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	283548	239010707	4188666	312	122319											
ESPNL	339768	broad.mit.edu	37	chr2	239013340	239013340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgcctccccactctacCtggcctgccaggagggccac	12	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:239013340C>A	uc002vxq.3	+	3	639	c.529C>A	c.(529-531)CTG>ATG	p.L177M		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	177	ANK 6.									pancreas(1)	1		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)		CCCACTCTACCTGGCCTGCCA	0.667													A	239013340	C	A	239013340	3	1	248	1	0	0	0	0	1	0	0	0	5255	680	24	5	539	5	ESPNL	2	239013340	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2633	239013340	4186033	313	122320											
ANKMY1	51281	broad.mit.edu	37	chr2	241452261	241452261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgtcggatgccttggcGtccacatcggtgatggcatg	13	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:241452261G>A	uc002vyz.1	-	9	2065	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	ANKMY1_uc002vza.1_Silent_p.D471D|ANKMY1_uc010fzd.1_Silent_p.D701D|ANKMY1_uc002vzb.1_Silent_p.D373D|ANKMY1_uc002vzc.1_Silent_p.D471D|ANKMY1_uc002vzd.1_Silent_p.D471D	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	612	ANK 4.						zinc ion binding			central_nervous_system(1)	1		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)		ATGCCTTGGCGTCCACATCGG	0.622													A	241452261	G	A	241452261	2	1	248	1	0	0	0	0	0	0	0	1	634	1136	40	1		1	ANKMY1	2	241452261	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2438921	241452261	1747112	314	122321											
ANKMY1	51281	broad.mit.edu	37	chr2	241463559	241463559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggctgcccttcaccaaCggggagtcccccttcagaga	10	16	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:241463559C>T	uc002vyz.1	-	7	1537	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P	ANKMY1_uc002vza.1_Silent_p.P295P|ANKMY1_uc010fzd.1_Silent_p.P525P|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.P295P|ANKMY1_uc002vzd.1_Silent_p.P295P|ANKMY1_uc010fze.1_Silent_p.P105P|ANKMY1_uc002vze.2_Silent_p.P197P	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	436							zinc ion binding			central_nervous_system(1)	1		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)		CCTTCACCAACGGGGAGTCCC	0.622													T	241463559	C	T	241463559	2	4	248	1	0	0	0	0	0	0	0	1	634	523	19	1		1	ANKMY1	2	241463559	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	11298	241463559	1735814	315	122322											
PASK	23178	broad.mit.edu	37	chr2	242066640	242066640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgacacaggccacacaTgccagcatcactgcccccat	6	18	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:242066640T>G	uc002wao.1	-	10	1782	c.1690A>C	c.(1690-1692)ATG>CTG	p.M564L	PASK_uc010zol.1_Missense_Mutation_p.M378L|PASK_uc010zom.1_Missense_Mutation_p.M529L|PASK_uc010fzl.1_Missense_Mutation_p.M564L|PASK_uc010zon.1_Missense_Mutation_p.M345L|PASK_uc002wap.2_Missense_Mutation_p.M107L|PASK_uc002waq.2_Missense_Mutation_p.M564L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	564					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		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)		AGGCCACACATGCCAGCATCA	0.607													G	242066640	T	G	242066640	3	3	248	1	0	0	0	0	1	0	0	0	11472	1464	51	5	2317	5	PASK	2	242066640	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	603081	242066640	1132733	316	122323											
HDLBP	3069	broad.mit.edu	37	chr2	242179467	242179467	+	Frame_Shift_Del	DEL	C	C	-													gcaccttgcgaattttgccgCcccccttgccgatgaggaat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:242179466_242179466GC>G	uc002waz.3	-	17	2414	c.2241_2241GC>C	c.(2239-2241)ggcfs	p.G747fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.G747fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.G714fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein 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)		GAATTTTGCCGCCCCCCTTGC	0.547													-	242179467	C	-	242179467	7	5	248	1	0	1	0	1	0	0	0	0	7025	739	26	0	1610	0	HDLBP	2	242179467	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	112827	242179467	1019906	317	122324											
CNTN4	152330	broad.mit.edu	37	chr3	2942504	2942504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgaacctctgctaactcGggtaagcaagttaatggtaa	11	8	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:2942504G>T	uc003bpc.2	+	10	1297	c.1076G>T	c.(1075-1077)CGG>CTG	p.R359L	CNTN4_uc003bpb.1_Missense_Mutation_p.R31L|CNTN4_uc003bpd.1_Missense_Mutation_p.R359L|CNTN4_uc003bpe.2_Missense_Mutation_p.R31L|CNTN4_uc003bpf.2_Missense_Mutation_p.R31L	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	359	Ig-like C2-type 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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTGCTAACTCGGGTAAGCAAG	0.408													T	2942504	G	T	2942504	3	4	248	1	0	0	0	0	1	0	0	0	3643	1130	39	5	1106	5	CNTN4	3	2942504	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		2942504	195079926	318	122325											
IL5RA	3568	broad.mit.edu	37	chr3	3137115	3137115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgacattcagtggAggatttatttgatctaagtt	10	5	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:3137115A>G	uc011ask.1	-	9	1367	c.723T>C	c.(721-723)CCT>CCC	p.P241P	IL5RA_uc010hbq.2_Intron|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Silent_p.P241P|IL5RA_uc011asl.1_Silent_p.P241P|IL5RA_uc011asm.1_Silent_p.P241P|IL5RA_uc010hbt.2_Silent_p.P241P|IL5RA_uc011asn.1_Silent_p.P241P|IL5RA_uc010hbu.2_Silent_p.P241P	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	241	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CATTCAGTGGAGGATTTATTT	0.383													G	3137115	A	G	3137115	2	3	248	1	0	0	0	0	0	0	0	1	7700	291	11	3		3	IL5RA	3	3137115	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	194611	3137115	194885315	319	122326											
GRM7	2917	broad.mit.edu	37	chr3	7340499	7340499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcgtgatttttgccaacGatgaggatataaagtaagaa	10	6	0	3	rs74549759		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:7340499G>A	uc003bqm.2	+	3	1139	c.865G>A	c.(865-867)GAT>AAT	p.D289N	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.D289N|GRM7_uc003bql.2_Missense_Mutation_p.D289N|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	289	Extracellular (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TTTTGCCAACGATGAGGATAT	0.433													A	7340499	G	A	7340499	3	1	248	1	0	0	0	0	1	0	0	0	6802	1058	37	1	875	1	GRM7	3	7340499	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4203384	7340499	190681931	320	122327											
C3orf32	51066	broad.mit.edu	37	chr3	8667942	8667942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagctggatgaagtgcAacagcttcttctcccccttg	9	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:8667942A>G	uc003bqu.2	-	9	920	c.674T>C	c.(673-675)TTG>TCG	p.L225S	C3orf32_uc003bqz.2_Missense_Mutation_p.L225S|C3orf32_uc003bqt.2_Missense_Mutation_p.L174S|C3orf32_uc011atg.1_Missense_Mutation_p.L247S|C3orf32_uc003bqv.2_Missense_Mutation_p.L174S|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.L225S	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	225										skin(1)	1						GATGAAGTGCAACAGCTTCTT	0.572													G	8667942	A	G	8667942	3	3	248	1	0	0	0	0	1	0	0	0	2222	131	5	3	403	3	C3orf32	3	8667942	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1327443	8667942	189354488	321	122328											
OGG1	4968	broad.mit.edu	37	chr3	9798261	9798261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacagctggcaccctaccaCgtcccaggcgaagggaccga	11	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:9798261C>T	uc003bsi.2	+	5	1197	c.854C>T	c.(853-855)ACG>ATG	p.T285M	OGG1_uc003bsh.2_Missense_Mutation_p.T285M|OGG1_uc003bsj.2_Missense_Mutation_p.T285M|OGG1_uc003bsk.2_Missense_Mutation_p.T285M|OGG1_uc003bsl.2_Missense_Mutation_p.T285M|OGG1_uc003bsm.2_Missense_Mutation_p.T285M|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.T50M|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Missense_Mutation_p.T50M	NM_002542	NP_002533	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 1a	285					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					CACCCTACCACGTCCCAGGCG	0.607								BER_DNA_glycosylases					T	9798261	C	T	9798261	3	4	248	1	0	0	0	0	1	0	0	0	10845	536	19	1	872	1	OGG1	3	9798261	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1130319	9798261	188224169	322	122329											
CRELD1	78987	broad.mit.edu	37	chr3	9979762	9979762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgaagctctgctgcccCgcaggcaccttcgggccctc	10	19	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:9979762C>T	uc003bug.2	+	5	550	c.432C>T	c.(430-432)CCC>CCT	p.P144P	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.P144P|CRELD1_uc003buh.2_Silent_p.P144P|CRELD1_uc003bui.2_Silent_p.P144P|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	144	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						TCTGCTGCCCCGCAGGCACCT	0.552													T	9979762	C	T	9979762	2	4	248	1	0	0	0	0	0	0	0	1	3866	639	23	1		1	CRELD1	3	9979762	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	181501	9979762	188042668	323	122330											
ATP2B2	491	broad.mit.edu	37	chr3	10382299	10382299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaagagctgcatcatgaCgaaggtgttgaagatgatgg	15	4	1	6			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:10382299C>T	uc003bvt.2	-	20	3446	c.3007G>A	c.(3007-3009)GTC>ATC	p.V1003I	ATP2B2_uc003bvv.2_Missense_Mutation_p.V958I|ATP2B2_uc003bvw.2_Missense_Mutation_p.V958I|ATP2B2_uc010hdo.2_Missense_Mutation_p.V708I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1003	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TGCATCATGACGAAGGTGTTG	0.552													T	10382299	C	T	10382299	3	4	248	1	0	0	0	0	1	0	0	0	1140	536	19	1	740	1	ATP2B2	3	10382299	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	402537	10382299	187640131	324	122331											
SLC6A1	6529	broad.mit.edu	37	chr3	11060285	11060285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgttccgctcccaggCgtgggccttgcggctgctgt	15	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:11060285C>T	uc010hdq.2	+	5	783	c.372C>T	c.(370-372)GGC>GGT	p.G124G		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	124	Helical; Name=3; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CGCTCCCAGGCGTGGGCCTTG	0.498													T	11060285	C	T	11060285	2	4	248	1	0	0	0	0	0	0	0	1	14673	782	27	1		1	SLC6A1	3	11060285	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	677986	11060285	186962145	325	122332											
TSEN2	80746	broad.mit.edu	37	chr3	12560653	12560653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccattactttcgaagcaaGggctgggtgcccaaagtggg	13	9	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:12560653G>T	uc003bxc.2	+	8	1443	c.1056G>T	c.(1054-1056)AAG>AAT	p.K352N	TSEN2_uc003bwy.2_Missense_Mutation_p.K352N|TSEN2_uc003bwz.2_Missense_Mutation_p.K293N|TSEN2_uc003bxa.2_Missense_Mutation_p.K326N|TSEN2_uc011auq.1_Missense_Mutation_p.K326N|TSEN2_uc003bxb.2_Missense_Mutation_p.K352N|TSEN2_uc011aur.1_Missense_Mutation_p.K261N	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	352					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						TTCGAAGCAAGGGCTGGGTGC	0.458													T	12560653	G	T	12560653	3	4	248	1	0	0	0	0	1	0	0	0	16609	991	35	5	1082	5	TSEN2	3	12560653	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1500368	12560653	185461777	326	122333											
RAF1	5894	broad.mit.edu	37	chr3	12626080	12626080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctcagtgtgggctgccCgatgcaaggatggctcggaa	14	10	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:12626080C>T	uc003bxf.3	-	17	2295	c.1880G>A	c.(1879-1881)CGG>CAG	p.R627Q	RAF1_uc011aut.1_Missense_Mutation_p.R412Q|RAF1_uc011auu.1_Missense_Mutation_p.R545Q	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	627					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)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GTGGGCTGCCCGATGCAAGGA	0.557			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				T	12626080	C	T	12626080	3	4	248	1	0	0	0	0	1	0	0	0	13002	652	23	1	70	1	RAF1	3	12626080	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	65427	12626080	185396350	327	122334											
TMEM40	55287	broad.mit.edu	37	chr3	12777078	12777078	+	Frame_Shift_Del	DEL	G	G	-													cagcctaaacttctggaagaGggggatgaagccttggagga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:12777077_12777077AG>A	uc011auv.1	-	10	874	c.707_707CT>T	c.(706-708)ctcfs	p.L236fs	TMEM40_uc003bxg.1_Frame_Shift_Del_p.L220fs|TMEM40_uc003bxh.1_Frame_Shift_Del_p.L190fs	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	220						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CTTCTGGAAGAGGGGGATGAA	0.458													-	12777078	G	-	12777078	7	5	248	1	0	1	0	1	0	0	0	0	16160	1000	35	0	51	0	TMEM40	3	12777078	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	150998	12777078	185245352	328	122335											
GRIP2	80852	broad.mit.edu	37	chr3	14535243	14535243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgccgtgtgcggcttgCggctgatgatcagctccaag	15	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:14535243C>T	uc011avi.1	-	25	3356	c.3356G>A	c.(3355-3357)CGC>CAC	p.R1119H	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.R650H	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	1021	PDZ 7.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						GTGCGGCTTGCGGCTGATGAT	0.667													T	14535243	C	T	14535243	3	4	248	1	0	0	0	0	1	0	0	0	6788	768	27	1	72	1	GRIP2	3	14535243	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1758165	14535243	183487187	329	122336											
SATB1	6304	broad.mit.edu	37	chr3	18390697	18390697	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtattaatgtctgtgtttcCttccactgacagctcttctt	6	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:18390697C>A	uc003cbh.2	-	11	3992	c.2257G>T	c.(2257-2259)GGA>TGA	p.G753*	SATB1_uc003cbi.2_Nonsense_Mutation_p.G785*|SATB1_uc003cbj.2_Nonsense_Mutation_p.G753*	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	753					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TCTGTGTTTCCTTCCACTGAC	0.363													A	18390697	C	A	18390697	4	1	248	1	0	0	0	0	0	1	0	0	13853	690	24	5	38	5	SATB1	3	18390697	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3855454	18390697	179631733	330	122337											
SATB1	6304	broad.mit.edu	37	chr3	18391077	18391077	+	Frame_Shift_Del	DEL	G	G	-													aggccaccgtgggttgccgtGgggggagccgagggcctgtc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:18391076_18391076TG>T	uc003cbh.3	-	10	3613	c.1878_1878CA>A	c.(1876-1878)ccafs	p.P626fs	SATB1_uc003cbi.3_Frame_Shift_Del_p.P658fs|SATB1_uc003cbj.3_Frame_Shift_Del_p.P626fs	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	626					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGGTTGCCGTGGGGGGAGCC	0.617													-	18391077	G	-	18391077	7	5	248	1	0	1	0	1	0	0	0	0	13853	1348	47	0	418	0	SATB1	3	18391077	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	380	18391077	179631353	331	122338											
EFHB	151651	broad.mit.edu	37	chr3	19974992	19974992	+	Frame_Shift_Del	DEL	T	T	-													attaaaacacaggtagactcTttttccatttcctgtcttgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:19974991_19974991CT>C	uc003cbl.4	-	0	716	c.520_520AG>G	c.(520-522)gagfs	p.E174fs	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	174					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAGGTAGACTCTTTTTCCATT	0.488													-	19974992	T	-	19974992	7	5	248	1	0	1	0	1	0	0	0	0	4945	1606	56	0	2034	0	EFHB	3	19974992	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1583915	19974992	178047438	332	122339											
NR1D2	9975	broad.mit.edu	37	chr3	23996119	23996119	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaatagtttccagtcctcCtcctcttctgttccatcttc	5	14	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:23996119C>A	uc003ccs.2	+	2	427	c.108C>A	c.(106-108)TCC>TCA	p.S36S	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	36	Poly-Ser.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						TCCAGTCCTCCTCCTCTTCTG	0.443													A	23996119	C	A	23996119	2	1	248	1	0	0	0	0	0	0	0	1	10616	668	24	5		5	NR1D2	3	23996119	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4021127	23996119	174026311	333	122340											
LRRC3B	116135	broad.mit.edu	37	chr3	26751758	26751758	+	Frame_Shift_Del	DEL	A	A	-													ctgacctttgtaacctccctAaaaaaactaccgattatgcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:26751757_26751757TA>T	uc003cdp.3	+	1	1183	c.594_594TA>T	c.(592-594)cctfs	p.P198fs	LRRC3B_uc003cdq.3_Frame_Shift_Del_p.P198fs|LRRC3B_uc021wuj.1_Frame_Shift_Del_p.P198fs	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	198						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTAACCTCCCTAAAAAAACTA	0.463													-	26751758	A	-	26751758	7	5	248	1	0	1	0	1	0	0	0	0	8996	363	13	0	597	0	LRRC3B	3	26751758	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	2755639	26751758	171270672	334	122341											
MLH1	4292	broad.mit.edu	37	chr3	37090086	37090086	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgcctatcttcattcttCgactagccactgaggtcagt	8	12	4	1	rs63750131		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:37090086C>T	uc003cgl.2	+	17	2035	c.1975C>T	c.(1975-1977)CGA>TGA	p.R659*	MLH1_uc011aye.1_Nonsense_Mutation_p.R418*|MLH1_uc011ayb.1_Nonsense_Mutation_p.R418*|MLH1_uc010hge.2_Intron|MLH1_uc003cgn.3_Nonsense_Mutation_p.R418*|MLH1_uc011ayc.1_Nonsense_Mutation_p.R561*|MLH1_uc011ayd.1_Nonsense_Mutation_p.R418*|MLH1_uc003cgo.2_Nonsense_Mutation_p.R418*|MLH1_uc010hgk.2_Nonsense_Mutation_p.R246*|MLH1_uc010hgn.2_Intron|MLH1_uc010hgm.2_Intron|MLH1_uc010hgo.2_Intron|MLH1_uc010hgp.2_Intron|MLH1_uc010hgq.2_Intron	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	659			R -> Q.|R -> L (in HNPCC2).|R -> P (in HNPCC2; interacts only very weakly with PMS2; equivalent substitution in yeast causes almost complete loss of function in a mismatch repair assay; abrogates 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)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						CTTCATTCTTCGACTAGCCAC	0.478		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				T	37090086	C	T	37090086	4	4	248	1	0	0	0	0	0	1	0	0	9617	876	31	1	2041	1	MLH1	3	37090086	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10338328	37090086	160932344	335	122342											
ACAA1	30	broad.mit.edu	37	chr3	38167356	38167356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctcgaagatgtccacGtcactcactgtcagccctgc	8	14	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:38167356G>A	uc003cht.2	-	10	1221	c.1014C>T	c.(1012-1014)GAC>GAT	p.D338D	ACAA1_uc003chu.2_Silent_p.D245D|ACAA1_uc010hgy.2_Silent_p.D297D|ACAA1_uc010hgz.2_Silent_p.D338D|ACAA1_uc003chv.2_Silent_p.D186D	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	338					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGATGTCCACGTCACTCACTG	0.597													A	38167356	G	A	38167356	2	1	248	1	0	0	0	0	0	0	0	1	104	1136	40	1		1	ACAA1	3	38167356	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1077270	38167356	159855074	336	122343											
TTC21A	199223	broad.mit.edu	37	chr3	39174731	39174731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacttgccaactgacaataaGgtgagtggccctcaaagcaa	9	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:39174731G>T	uc003cjc.2	+	20	2949	c.2772G>T	c.(2770-2772)AAG>AAT	p.K924N	TTC21A_uc003cje.2_Missense_Mutation_p.K925N|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.K876N|TTC21A_uc011ayy.1_Missense_Mutation_p.K45N|TTC21A_uc003cjf.2_Missense_Mutation_p.K45N	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	924	TPR 14.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGACAATAAGGTGAGTGGCC	0.502													T	39174731	G	T	39174731	3	4	248	1	0	0	0	0	1	0	0	0	16684	1014	35	5	2853	5	TTC21A	3	39174731	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1007375	39174731	158847699	337	122344											
XIRP1	165904	broad.mit.edu	37	chr3	39227260	39227260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctagaggggcagtcttcAgggtggtctctgcagcttgg	17	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:39227260A>G	uc003cjk.1	-	2	3898	c.3677T>C	c.(3676-3678)CTG>CCG	p.L1226P	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1226							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCAGTCTTCAGGGTGGTCTC	0.662													G	39227260	A	G	39227260	3	3	248	1	0	0	0	0	1	0	0	0	17426	188	7	3	1858	3	XIRP1	3	39227260	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	52529	39227260	158795170	338	122345											
CCR8	1237	broad.mit.edu	37	chr3	39374653	39374653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtagcataagccaacaGctgacttatgccacccatgt	9	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:39374653G>A	uc010hhr.2	+	2	969	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	CCR8_uc003cjm.2_Silent_p.Q194Q	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	277	Extracellular (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TAAGCCAACAGCTGACTTATG	0.433													A	39374653	G	A	39374653	2	1	248	1	0	0	0	0	0	0	0	1	2947	962	34	2		2	CCR8	3	39374653	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	147393	39374653	158647777	339	122346											
ZBTB47	92999	broad.mit.edu	37	chr3	42703070	42703070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagaagaagttctcatgcGagatctgtgagaagaagttc	12	6	2	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42703070G>A	uc003clu.1	+	2	541	c.439G>A	c.(439-441)GAG>AAG	p.E147K		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	147	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GTTCTCATGCGAGATCTGTGA	0.512													A	42703070	G	A	42703070	3	1	248	1	0	0	0	0	1	0	0	0	17545	1059	37	1	1573	1	ZBTB47	3	42703070	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3328417	42703070	155319360	340	122347											
KBTBD5	131377	broad.mit.edu	37	chr3	42727516	42727516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctccaactgcttggccGtcttccgtctcggcctcctg	9	18	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42727516G>A	uc003clv.1	+	1	506	c.406G>A	c.(406-408)GTC>ATC	p.V136I		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	136	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGCTTGGCCGTCTTCCGTCT	0.642													A	42727516	G	A	42727516	3	1	248	1	0	0	0	0	1	0	0	0	7996	1145	40	1	408	1	KBTBD5	3	42727516	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	24446	42727516	155294914	341	122348											
HIGD1A	25994	broad.mit.edu	37	chr3	42827616	42827616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgctcttcagtttatAtaatccatatgcaacaattg	4	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42827616A>G	uc003cma.3	-	3	282	c.136T>C	c.(136-138)TAT>CAT	p.Y46H	HIGD1A_uc010hid.2_Missense_Mutation_p.Y60H|HIGD1A_uc003cmb.3_Missense_Mutation_p.Y46H	NM_001099669	NP_001093139	Q9Y241	HIG1A_HUMAN	HIG1 domain family, member 1A isoform b	46	Helical; (Potential).|HIG1.				response to stress	integral to membrane|protein complex	protein binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCAGTTTATATAATCCATAT	0.418													G	42827616	A	G	42827616	3	3	248	1	0	0	0	0	1	0	0	0	7106	449	16	3	153	3	HIGD1A	3	42827616	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	100100	42827616	155194814	342	122349											
CYP8B1	1582	broad.mit.edu	37	chr3	42915829	42915829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggatgcaggcggtagcGgaagcgcacatcgtggctgg	18	8	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42915829G>A	uc003cmh.2	-	1	1805	c.1480C>T	c.(1480-1482)CGC>TGC	p.R494C	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	494					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			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGGCGGTAGCGGAAGCGCACA	0.582													A	42915829	G	A	42915829	3	1	248	1	0	0	0	0	1	0	0	0	4198	1116	39	1	29	1	CYP8B1	3	42915829	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	88213	42915829	155106601	343	122350											
CYP8B1	1582	broad.mit.edu	37	chr3	42916499	42916499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaacttgtcctgcatAgctgagggtaccccctgctc	10	12	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42916499A>G	uc003cmh.2	-	1	1135	c.810T>C	c.(808-810)GCT>GCC	p.A270A	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.A270A	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	270					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			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGTCCTGCATAGCTGAGGGTA	0.577													G	42916499	A	G	42916499	2	3	248	1	0	0	0	0	0	0	0	1	4198	407	15	3		3	CYP8B1	3	42916499	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	670	42916499	155105931	344	122351											
ANO10	55129	broad.mit.edu	37	chr3	43641899	43641899	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaacctttgaagttctgtCtggttctgtatgtgaaggct	10	7	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:43641899C>T	uc003cmv.2	-	3	485	c.314G>A	c.(313-315)AGA>AAA	p.R105K	ANO10_uc011azs.1_Missense_Mutation_p.R105K|ANO10_uc003cmw.2_Intron|ANO10_uc010hil.2_Missense_Mutation_p.R105K|ANO10_uc011azt.1_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	105	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						GAAGTTCTGTCTGGTTCTGTA	0.368													T	43641899	C	T	43641899	3	4	248	1	0	0	0	0	1	0	0	0	696	913	32	4	1712	4	ANO10	3	43641899	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	725400	43641899	154380531	345	122352											
KIF15	56992	broad.mit.edu	37	chr3	44828026	44828026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagtctttgttgttggtgCggtggagcaggtggtaacct	18	5	1	0	rs145837852		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:44828026C>T	uc003cnx.3	+	7	748	c.599C>T	c.(598-600)GCG>GTG	p.A200V	KIF15_uc010hiq.2_Missense_Mutation_p.A103V	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	200	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTTGTTGGTGCGGTGGAGCAG	0.483													T	44828026	C	T	44828026	3	4	248	1	0	0	0	0	1	0	0	0	8277	768	27	1	625	1	KIF15	3	44828026	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1186127	44828026	153194404	346	122353											
LARS2	23395	broad.mit.edu	37	chr3	45527188	45527188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctctcattttcagattgCctcacgcctgtaatggctgt	8	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:45527188C>T	uc003cop.1	+	11	1208	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	LARS2_uc010hit.1_Silent_p.C298C	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	341					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TTTCAGATTGCCTCACGCCTG	0.453													T	45527188	C	T	45527188	2	4	248	1	0	0	0	0	0	0	0	1	8635	747	26	2		2	LARS2	3	45527188	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	699162	45527188	152495242	347	122354											
LIMD1	8994	broad.mit.edu	37	chr3	45637325	45637325	+	Frame_Shift_Del	DEL	G	G	-													ccaagatcaaactcggggctGgggggtgaggtttcaggtgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:45637324_45637324TG>T	uc003coq.3	+	0	1002	c.953_953TG>T	c.(952-954)ctgfs	p.L318fs		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	318					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding	p.G317G(1)		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)		AACTCGGGGCTGGGGGGTGAG	0.602													-	45637325	G	-	45637325	7	5	248	1	0	1	0	1	0	0	0	0	8798	1335	47	0	956	0	LIMD1	3	45637325	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	110137	45637325	152385105	348	122355											
FYCO1	79443	broad.mit.edu	37	chr3	46009038	46009038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgtctaactgtgcctcCtgcaggcccctctgctcctc	8	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:46009038C>A	uc003cpb.3	-	8	1994	c.1788G>T	c.(1786-1788)CAG>CAT	p.Q596H	FYCO1_uc011bal.1_Missense_Mutation_p.Q596H	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	596	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACTGTGCCTCCTGCAGGCCCC	0.607													A	46009038	C	A	46009038	3	1	248	1	0	0	0	0	1	0	0	0	6125	680	24	5	2692	5	FYCO1	3	46009038	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	371713	46009038	152013392	349	122356											
NBEAL2	23218	broad.mit.edu	37	chr3	47043895	47043895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagttcgaaatggacaCgtatgctaagagccacgacc	10	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:47043895C>T	uc003cqp.2	+	32	5365	c.5186C>T	c.(5185-5187)ACG>ATG	p.T1729M	NBEAL2_uc010hjm.1_Missense_Mutation_p.T1106M|NBEAL2_uc010hjn.1_Missense_Mutation_p.T125M|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1729							binding			ovary(1)	1		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)		GAAATGGACACGTATGCTAAG	0.587													T	47043895	C	T	47043895	3	4	248	1	0	0	0	0	1	0	0	0	10189	536	19	1	5312	1	NBEAL2	3	47043895	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1034857	47043895	150978535	350	122357											
PTPN23	25930	broad.mit.edu	37	chr3	47447275	47447275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggggccatggacaagcGggtgtctgaggaggtgagga	21	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:47447275G>A	uc003crf.1	+	5	497	c.401G>A	c.(400-402)CGG>CAG	p.R134Q	PTPN23_uc011baw.1_Missense_Mutation_p.R109Q|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R4Q	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	134	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGGACAAGCGGGTGTCTGAG	0.617													A	47447275	G	A	47447275	3	1	248	1	0	0	0	0	1	0	0	0	12788	1116	39	1	419	1	PTPN23	3	47447275	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	403380	47447275	150575155	351	122358											
DHX30	22907	broad.mit.edu	37	chr3	47891389	47891389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccaccatctcactgagcGacagtgacctgctgcggctg	13	14	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:47891389G>A	uc003cru.2	+	22	3790	c.3364G>A	c.(3364-3366)GAC>AAC	p.D1122N	DHX30_uc003crt.2_Missense_Mutation_p.D1083N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1122						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTCACTGAGCGACAGTGACCT	0.687											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	47891389	G	A	47891389	3	1	248	1	0	0	0	0	1	0	0	0	4504	1058	37	1	3453	1	DHX30	3	47891389	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	444114	47891389	150131041	352	122359											
COL7A1	1294	broad.mit.edu	37	chr3	48605533	48605533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcctaccttgaggcccCggggacccatgaagccaaca	9	15	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:48605533C>T	uc003ctz.2	-	105	7866	c.7865G>A	c.(7864-7866)CGG>CAG	p.R2622Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2622	Triple-helical region.		R -> W (in RDEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGAGGCCCCGGGGACCCAT	0.542													T	48605533	C	T	48605533	3	4	248	1	0	0	0	0	1	0	0	0	3704	652	23	1	1025	1	COL7A1	3	48605533	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	714144	48605533	149416897	353	122360											
CELSR3	1951	broad.mit.edu	37	chr3	48690485	48690485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacatggtggccccgccGgccacctggttcctcctgca	12	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:48690485G>A	uc003cul.2	-	10	5865	c.5584C>T	c.(5584-5586)CGG>TGG	p.R1862W	CELSR3_uc003cuf.1_Missense_Mutation_p.R1932W|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1862	Extracellular (Potential).|Laminin G-like 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			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGCCCCGCCGGCCACCTGGT	0.622													A	48690485	G	A	48690485	3	1	248	1	0	0	0	0	1	0	0	0	3223	1115	39	1	4458	1	CELSR3	3	48690485	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	84952	48690485	149331945	354	122361											
DALRD3	55152	broad.mit.edu	37	chr3	49055245	49055245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtccacccgcagttgCtgcaggaaggtcagcatgtg	14	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49055245C>A	uc003cvk.1	-	3	539	c.519G>T	c.(517-519)CAG>CAT	p.Q173H	DALRD3_uc003cvl.1_Missense_Mutation_p.Q173H|DALRD3_uc003cvm.1_Missense_Mutation_p.Q6H|DALRD3_uc010hko.1_Missense_Mutation_p.Q6H|DALRD3_uc011bca.1_Missense_Mutation_p.Q173H|NDUFAF3_uc003cvn.2_5'Flank	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	173					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCGCAGTTGCTGCAGGAAGG	0.647													A	49055245	C	A	49055245	3	1	248	1	0	0	0	0	1	0	0	0	4229	796	28	5	1152	5	DALRD3	3	49055245	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	364760	49055245	148967185	355	122362											
USP19	10869	broad.mit.edu	37	chr3	49146401	49146401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgagctcatctccagCgactctgggataccagagga	13	12	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49146401C>T	uc003cwd.1	-	26	4108	c.3947G>A	c.(3946-3948)CGC>CAC	p.R1316H	USP19_uc003cwa.2_Intron|USP19_uc003cvz.3_Intron|USP19_uc011bcg.1_Intron|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R1074H|USP19_uc011bch.1_Missense_Mutation_p.R1417H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1316	Lumenal (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATCTCCAGCGACTCTGGGA	0.622													T	49146401	C	T	49146401	3	4	248	1	0	0	0	0	1	0	0	0	17047	768	27	1	13	1	USP19	3	49146401	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	91156	49146401	148876029	356	122363											
LAMB2	3913	broad.mit.edu	37	chr3	49168416	49168416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctggtgcccctggggcGggtgcacactctgaggcgtg	19	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49168416G>A	uc003cwe.2	-	7	1181	c.882C>T	c.(880-882)CCC>CCT	p.P294P	LAMB2_uc003cwf.1_Silent_p.P294P	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	294	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCTGGGGCGGGTGCACACT	0.612													A	49168416	G	A	49168416	2	1	248	1	0	0	0	0	0	0	0	1	8611	1103	39	1		1	LAMB2	3	49168416	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	22015	49168416	148854014	357	122364											
RNF123	63891	broad.mit.edu	37	chr3	49751243	49751243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccctgcgggctgtggagcGaatccccgaggagcagtgag	16	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49751243G>A	uc003cxh.2	+	29	2908	c.2822G>A	c.(2821-2823)CGA>CAA	p.R941Q	RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	941						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCTGTGGAGCGAATCCCCGAG	0.672													A	49751243	G	A	49751243	3	1	248	1	0	0	0	0	1	0	0	0	13433	1058	37	1	2932	1	RNF123	3	49751243	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	582827	49751243	148271187	358	122365											
IP6K1	9807	broad.mit.edu	37	chr3	49764826	49764826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacgcatctcagaccggCggtccaggcaggactcagcc	13	14	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49764826C>T	uc003cxm.1	-	6	1370	c.1055G>A	c.(1054-1056)CGC>CAC	p.R352H	IP6K1_uc003cxn.1_Missense_Mutation_p.R187H|IP6K1_uc011bcv.1_Missense_Mutation_p.R187H|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	352					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						CTCAGACCGGCGGTCCAGGCA	0.632													T	49764826	C	T	49764826	3	4	248	1	0	0	0	0	1	0	0	0	7788	768	27	1	274	1	IP6K1	3	49764826	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	13583	49764826	148257604	359	122366											
HEMK1	51409	broad.mit.edu	37	chr3	50615293	50615293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatttggatcatccacctCgacatgacctcaggtaccct	8	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:50615293C>T	uc003dau.2	+	7	947	c.651C>T	c.(649-651)CTC>CTT	p.L217L	HEMK1_uc003dav.2_Silent_p.L217L|HEMK1_uc003daw.2_Silent_p.L217L	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	217					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TCATCCACCTCGACATGACCT	0.572													T	50615293	C	T	50615293	2	4	248	1	0	0	0	0	0	0	0	1	7051	871	31	1		1	HEMK1	3	50615293	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	850467	50615293	147407137	360	122367											
DOCK3	1795	broad.mit.edu	37	chr3	51418508	51418508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccctatcccagcctccCccacaagcccccagtcaggt	5	22	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:51418508C>A	uc011bds.1	+	53	5634	c.5611C>A	c.(5611-5613)CCC>ACC	p.P1871T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1871						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGCCTCCCCCACAAGCCC	0.602													A	51418508	C	A	51418508	3	1	248	1	0	0	0	0	1	0	0	0	4688	623	22	5	5821	5	DOCK3	3	51418508	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	803215	51418508	146603922	361	122368											
RAD54L2	23132	broad.mit.edu	37	chr3	51697262	51697262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgcccagcaacctttcGcggggcatgtctatctatcc	9	14	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:51697262G>A	uc011bdt.1	+	22	4355	c.4230G>A	c.(4228-4230)TCG>TCA	p.S1410S	RAD54L2_uc003dbh.2_Silent_p.S999S|RAD54L2_uc011bdu.1_Silent_p.S1104S|RAD54L2_uc003dbj.2_Silent_p.S736S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1410						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCAACCTTTCGCGGGGCATGT	0.572													A	51697262	G	A	51697262	2	1	248	1	0	0	0	0	0	0	0	1	12994	1074	38	1		1	RAD54L2	3	51697262	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	278754	51697262	146325168	362	122369											
ALAS1	211	broad.mit.edu	37	chr3	52233281	52233281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgttgttcgccgctgCccattcttatcccgagtccc	10	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52233281C>T	uc003dcy.1	+	3	361	c.24C>T	c.(22-24)TGC>TGT	p.C8C	ALAS1_uc003dcx.1_Silent_p.C8C|ALAS1_uc003dcz.1_Silent_p.C8C|ALAS1_uc011bec.1_Silent_p.C25C	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	8					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				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)	TTCGCCGCTGCCCATTCTTAT	0.483													T	52233281	C	T	52233281	2	4	248	1	0	0	0	0	0	0	0	1	484	747	26	2		2	ALAS1	3	52233281	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	536019	52233281	145789149	363	122370											
BAP1	8314	broad.mit.edu	37	chr3	52436395	52436395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgctgaccccttggcgcCgccgcacggagatgttctgc	13	15	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52436395C>T	uc003ddx.2	-	17	2214	c.2099G>A	c.(2098-2100)CGG>CAG	p.R700Q	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	700	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.Q694fs*14(1)		pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				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)		CCCTTGGCGCCGCCGCACGGA	0.657			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52436395	C	T	52436395	3	4	248	1	0	0	0	0	1	0	0	0	1311	652	23	1	94	1	BAP1	3	52436395	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	203114	52436395	145586035	364	122371											
BAP1	8314	broad.mit.edu	37	chr3	52437509	52437509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacaggacccagatcaCggacagcacggttgtagcgt	13	10	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52437509C>T	uc003ddx.2	-	13	1767	c.1652G>A	c.(1651-1653)CGT>CAT	p.R551H	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	551					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			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				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)		ACCCAGATCACGGACAGCACG	0.617			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52437509	C	T	52437509	3	4	248	1	0	0	0	0	1	0	0	0	1311	536	19	1	557	1	BAP1	3	52437509	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1114	52437509	145584921	365	122372											
STAB1	23166	broad.mit.edu	37	chr3	52554481	52554481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgccctttgagggtggCctggcctatggcatcgacca	12	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52554481C>T	uc003dej.2	+	53	5639	c.5565C>T	c.(5563-5565)GGC>GGT	p.G1855G	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1855	Extracellular (Potential).|FAS1 6.				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		TTGAGGGTGGCCTGGCCTATG	0.617													T	52554481	C	T	52554481	2	4	248	1	0	0	0	0	0	0	0	1	15236	726	26	2		2	STAB1	3	52554481	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	116972	52554481	145467949	366	122373											
STAB1	23166	broad.mit.edu	37	chr3	52555418	52555418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttgtagtgaccgtggcGtgtgcatggacggcatgagt	16	9	0	2	rs142954501		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52555418G>A	uc003dej.2	+	56	6024	c.5950G>A	c.(5950-5952)GTG>ATG	p.V1984M	STAB1_uc003dek.1_Translation_Start_Site|STAB1_uc003del.2_Translation_Start_Site	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1984	Extracellular (Potential).|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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		TGACCGTGGCGTGTGCATGGA	0.637													A	52555418	G	A	52555418	3	1	248	1	0	0	0	0	1	0	0	0	15236	1145	40	1	6172	1	STAB1	3	52555418	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	937	52555418	145467012	367	122374											
GLT8D1	55830	broad.mit.edu	37	chr3	52729496	52729496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattctgtcgtttccattcCgtcaggtttgcaacaaaaac	6	10	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52729496C>T	uc003dfi.3	-	8	892	c.753G>A	c.(751-753)ACG>ACA	p.T251T	GLT8D1_uc003dfj.2_Silent_p.T251T|GLT8D1_uc003dfk.2_Silent_p.T251T|GLT8D1_uc003dfl.2_Silent_p.T251T|GLT8D1_uc003dfm.2_Silent_p.T251T|GLT8D1_uc003dfn.2_Silent_p.T251T|GLT8D1_uc003dfo.1_Silent_p.T251T	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	251	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTTTCCATTCCGTCAGGTTTG	0.368													T	52729496	C	T	52729496	2	4	248	1	0	0	0	0	0	0	0	1	6469	639	23	1		1	GLT8D1	3	52729496	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	174078	52729496	145292934	368	122375											
ITIH3	3699	broad.mit.edu	37	chr3	52831901	52831901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctctttcatcaccaaCgacctcctgggaagcgccct	9	16	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52831901C>T	uc003dfv.2	+	6	654	c.618C>T	c.(616-618)AAC>AAT	p.N206N	ITIH3_uc011bek.1_Silent_p.N206N	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	206					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				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)		TCATCACCAACGACCTCCTGG	0.527													T	52831901	C	T	52831901	2	4	248	1	0	0	0	0	0	0	0	1	7905	535	19	1		1	ITIH3	3	52831901	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	102405	52831901	145190529	369	122376											
CACNA1D	776	broad.mit.edu	37	chr3	53531458	53531458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcactcaataaccccatccGaagagcctgcattagtatag	6	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:53531458G>A	uc003dgv.3	+	2	510	c.347G>A	c.(346-348)CGA>CAA	p.R116Q	CACNA1D_uc003dgu.3_Missense_Mutation_p.R116Q|CACNA1D_uc003dgy.3_Missense_Mutation_p.R116Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	116	Cytoplasmic (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R116*(1)		ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	AACCCCATCCGAAGAGCCTGC	0.423													A	53531458	G	A	53531458	3	1	248	1	0	0	0	0	1	0	0	0	2541	1058	37	1	353	1	CACNA1D	3	53531458	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	699557	53531458	144490972	370	122377											
CHDH	55349	broad.mit.edu	37	chr3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgtcggcttttgcccGcacaaaggcatctatctctt	10	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:53852082G>A	uc003dgz.2	-	9	1947	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	503					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTTTTGCCCGCACAAAGGCA	0.582													A	53852082	G	A	53852082	3	1	248	1	0	0	0	0	1	0	0	0	3333	1086	38	1	281	1	CHDH	3	53852082	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	320624	53852082	144170348	371	122378											
ACTR8	93973	broad.mit.edu	37	chr3	53911774	53911774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctgcttattgtaggagCgtgcctgaaaagaaaaacca	10	8	1	2	rs149202945		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:53911774C>T	uc003dhd.2	-	4	469	c.410G>A	c.(409-411)CGC>CAC	p.R137H	ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_Missense_Mutation_p.R26H	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	137					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				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)		ATTGTAGGAGCGTGCCTGAAA	0.408													T	53911774	C	T	53911774	3	4	248	1	0	0	0	0	1	0	0	0	217	768	27	1	1504	1	ACTR8	3	53911774	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	59692	53911774	144110656	372	122379											
PDHB	5162	broad.mit.edu	37	chr3	58416460	58416460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggactgaccacctttaaGcctgggcagtgcccatacca	10	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:58416460G>A	uc003dkf.3	-	6	542	c.513C>T	c.(511-513)GGC>GGT	p.G171G	PDHB_uc003dke.3_Silent_p.G129G|PDHB_uc003dkg.3_Silent_p.G153G|PDHB_uc010hnl.2_Silent_p.G153G|PDHB_uc011bff.1_Silent_p.G153G	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	171					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				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)	CCACCTTTAAGCCTGGGCAGT	0.527													A	58416460	G	A	58416460	2	1	248	1	0	0	0	0	0	0	0	1	11666	958	34	2		2	PDHB	3	58416460	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4504686	58416460	139605970	373	122380											
PTPRG	5793	broad.mit.edu	37	chr3	62189130	62189130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctaggccagtcctagCcaccacagaggccttggctt	13	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:62189130C>T	uc003dlb.2	+	12	2380	c.1661C>T	c.(1660-1662)GCC>GTC	p.A554V	PTPRG_uc003dlc.2_Missense_Mutation_p.A554V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	554	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAGTCCTAGCCACCACAGAG	0.572													T	62189130	C	T	62189130	3	4	248	1	0	0	0	0	1	0	0	0	12802	739	26	2	1707	2	PTPRG	3	62189130	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3772670	62189130	135833300	374	122381											
ADAMTS9	56999	broad.mit.edu	37	chr3	64579967	64579967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtactccatgcagcgtcGtgtggacaagcatgtgtgtt	12	10	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:64579967G>A	uc003dmg.2	-	28	4355	c.4323C>T	c.(4321-4323)CAC>CAT	p.H1441H	ADAMTS9_uc011bfo.1_Silent_p.H1413H|ADAMTS9_uc003dmh.1_Silent_p.H1270H|ADAMTS9_uc011bfp.1_Silent_p.H352H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1441	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		ATGCAGCGTCGTGTGGACAAG	0.488													A	64579967	G	A	64579967	2	1	248	1	0	0	0	0	0	0	0	1	273	1136	40	1		1	ADAMTS9	3	64579967	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2390837	64579967	133442463	375	122382											
LRIG1	26018	broad.mit.edu	37	chr3	66436701	66436701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtttctggctgggtgAtgatctgtggcttcaggaag	17	5	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:66436701A>G	uc003dmx.2	-	13	1507	c.1493T>C	c.(1492-1494)ATC>ACC	p.I498T	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.I118T|LRIG1_uc003dmw.2_Missense_Mutation_p.I164T|LRIG1_uc010hnz.2_Missense_Mutation_p.I214T|LRIG1_uc010hoa.2_Missense_Mutation_p.I522T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	498	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGGCTGGGTGATGATCTGTGG	0.547													G	66436701	A	G	66436701	3	3	248	1	0	0	0	0	1	0	0	0	8944	333	12	3	1816	3	LRIG1	3	66436701	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1856734	66436701	131585729	376	122383											
ROBO2	6092	broad.mit.edu	37	chr3	77666779	77666779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacacctcctgttcgaggcGtggcttcttctcctgctatc	8	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:77666779G>A	uc003dpy.3	+	22	4052	c.3409G>A	c.(3409-3411)GTG>ATG	p.V1137M	ROBO2_uc003dpz.2_Missense_Mutation_p.V1141M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V1141M|ROBO2_uc003dqa.2_Missense_Mutation_p.V264M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1137	Cytoplasmic (Potential).				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	p.V1137M(1)		lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		TGTTCGAGGCGTGGCTTCTTC	0.527													A	77666779	G	A	77666779	3	1	248	1	0	0	0	0	1	0	0	0	13514	1145	40	1	3497	1	ROBO2	3	77666779	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	11230078	77666779	120355651	377	122384											
GBE1	2632	broad.mit.edu	37	chr3	81586171	81586171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagttaaatgaaactgcCgcctggcataatggtaactc	9	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:81586171C>T	uc003dqg.2	-	14	1977	c.1694G>A	c.(1693-1695)CGG>CAG	p.R565Q	GBE1_uc011bgm.1_Missense_Mutation_p.R524Q	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ATGAAACTGCCGCCTGGCATA	0.383									Glycogen_Storage_Disease_type_IV				T	81586171	C	T	81586171	3	4	248	1	0	0	0	0	1	0	0	0	6270	652	23	1	430	1	GBE1	3	81586171	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3919392	81586171	116436259	378	122385											
HTR1F	3355	broad.mit.edu	37	chr3	88040619	88040619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaaaagcactaaatcAgtttccacatcctatgtact	7	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:88040619A>G	uc003dqr.2	+	2	878	c.720A>G	c.(718-720)TCA>TCG	p.S240S		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	240	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GCACTAAATCAGTTTCCACAT	0.408													G	88040619	A	G	88040619	2	3	248	1	0	0	0	0	0	0	0	1	7440	175	7	3		3	HTR1F	3	88040619	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	6454448	88040619	109981811	379	122386											
COL8A1	1295	broad.mit.edu	37	chr3	99513939	99513939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcctgcctggaatcccAggtcctatgggccctccagg	12	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:99513939A>G	uc003dtg.1	+	5	1439	c.1194A>G	c.(1192-1194)CCA>CCG	p.P398P	COL8A1_uc003dth.1_Silent_p.P398P|COL8A1_uc003dti.1_Silent_p.P399P	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	398	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						CTGGAATCCCAGGTCCTATGG	0.612													G	99513939	A	G	99513939	2	3	248	1	0	0	0	0	0	0	0	1	3705	175	7	3		3	COL8A1	3	99513939	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	11473320	99513939	98508491	380	122387											
LNP1	348801	broad.mit.edu	37	chr3	100148586	100148587	+	In_Frame_Ins	INS	-	-	GAT													cctttacatggagcacaaagINSatgatgatgatgatgatgtg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:100148585_100148586A>AGAT	uc003dtx.4	+	1	1292_1293	c.12_13A>AGAT	c.(10-15)aaagat>aaAGATat	p.4_5KD>KD		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	4										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						TGGAGCACAAAGATGATGATGA	0.51													GAT	100148587	-	GAT	100148586	7	5	248	1	0	1	1	0	0	0	0	0	8863	942	33	0	15	0	LNP1	3	100148586	In_Frame_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	634647	100148586	97873844	381	122388											
ABI3BP	25890	broad.mit.edu	37	chr3	100569516	100569516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacattacccagtgttgcccTtggctgttcaagagttctag	9	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:100569516T>C	uc003dun.2	-	14	1373	c.1288A>G	c.(1288-1290)AGG>GGG	p.R430G	ABI3BP_uc003duo.2_Missense_Mutation_p.R472G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	430	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						AGTGTTGCCCTTGGCTGTTCA	0.333													C	100569516	T	C	100569516	3	2	248	1	0	0	0	0	1	0	0	0	91	1608	56	3	2027	3	ABI3BP	3	100569516	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	420930	100569516	97452914	382	122389											
IMPG2	50939	broad.mit.edu	37	chr3	100992453	100992453	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaattcttcttcaaggtgcTggtggtgaaagctggaggaa	13	5	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:100992453T>C	uc003duq.1	-	7	1003	c.800A>G	c.(799-801)CAG>CGG	p.Q267R	IMPG2_uc011bhe.1_Missense_Mutation_p.Q130R	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	267	Extracellular (Potential).|Hyaluronan-binding motif involved in chondroitin sulfate A-binding (By similarity).|SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TTCAAGGTGCTGGTGGTGAAA	0.418													C	100992453	T	C	100992453	3	2	248	1	0	0	0	0	1	0	0	0	7729	1580	55	3	2977	3	IMPG2	3	100992453	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	422937	100992453	97029977	383	122390											
DZIP3	9666	broad.mit.edu	37	chr3	108405333	108405333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagcgcctgtgggagaCgctgtgcctcccagtgcagg	15	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:108405333C>T	uc003dxd.2	+	28	3473	c.3051C>T	c.(3049-3051)GAC>GAT	p.D1017D	DZIP3_uc003dxf.1_Silent_p.D1017D|DZIP3_uc011bhm.1_Silent_p.D468D	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1017					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CTGTGGGAGACGCTGTGCCTC	0.517													T	108405333	C	T	108405333	2	4	248	1	0	0	0	0	0	0	0	1	4865	535	19	1		1	DZIP3	3	108405333	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7412880	108405333	89617097	384	122391											
GUCA1C	9626	broad.mit.edu	37	chr3	108672544	108672544	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcataaatgttctgtaCcacacatgggtctcttgtgt	7	10	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:108672544C>T	uc003dxj.2	-	1	134	c.66G>A	c.(64-66)TGG>TGA	p.W22*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.W22*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	22	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						ATGTTCTGTACCACACATGGG	0.433													T	108672544	C	T	108672544	4	4	248	1	0	0	0	0	0	1	0	0	6890	508	18	4	579	4	GUCA1C	3	108672544	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	267211	108672544	89349886	385	122392											
CCDC80	151887	broad.mit.edu	37	chr3	112326068	112326068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccaacttcctctccaaCgcctaaaagcttcagaatgg	5	16	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:112326068C>T	uc003dzf.2	-	7	2679	c.2461G>A	c.(2461-2463)GTT>ATT	p.V821I	CCDC80_uc011bhv.1_Intron|CCDC80_uc003dzg.2_Missense_Mutation_p.V821I|CCDC80_uc003dzh.1_Missense_Mutation_p.V821I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	821										ovary(2)	2						TCCTCTCCAACGCCTAAAAGC	0.368													T	112326068	C	T	112326068	3	4	248	1	0	0	0	0	1	0	0	0	2854	536	19	1	399	1	CCDC80	3	112326068	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3653524	112326068	85696362	386	122393											
KIAA1407	57577	broad.mit.edu	37	chr3	113755558	113755558	+	Frame_Shift_Del	DEL	T	T	-													tcattgcagaatctaccacaTttttatggagcagatggtct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:113755558delT	uc003eax.2	-	5	638	c.491delA	c.(490-492)AATfs	p.N164fs	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Frame_Shift_Del_p.N142fs|KIAA1407_uc011bip.1_Frame_Shift_Del_p.N151fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	164										ovary(2)	2						ATCTACCACATTTTTATGGAG	0.403													-	113755558	T	-	113755558	7	5	248	1	0	1	0	1	0	0	0	0	8229	1493	52	0	2371	0	KIAA1407	3	113755558	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1429490	113755558	84266872	387	122394											
TMEM39A	55254	broad.mit.edu	37	chr3	119176971	119176971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggtagatgaaaaaaaggAattcaaagagtaggctccca	10	6	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:119176971A>G	uc003eck.1	-	3	593	c.230T>C	c.(229-231)TTC>TCC	p.F77S	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	77	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GAAAAAAAGGAATTCAAAGAG	0.438													G	119176971	A	G	119176971	3	3	248	1	0	0	0	0	1	0	0	0	16158	246	9	3	1264	3	TMEM39A	3	119176971	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	5421413	119176971	78845459	388	122395											
GTF2E1	2960	broad.mit.edu	37	chr3	120499907	120499907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggcatagatatggacGcatttcaggagcgtgaggaa	16	6	1	2	rs140000454		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:120499907G>A	uc003edz.3	+	5	1024	c.910G>A	c.(910-912)GCA>ACA	p.A304T		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	304					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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		AGATATGGACGCATTTCAGGA	0.428													A	120499907	G	A	120499907	3	1	248	1	0	0	0	0	1	0	0	0	6856	1087	38	1	924	1	GTF2E1	3	120499907	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1322936	120499907	77522523	389	122396											
PARP14	54625	broad.mit.edu	37	chr3	122437344	122437344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctcctggctacaagaccTgattgaaaaagaacagtgtc	8	9	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:122437344T>C	uc003efq.3	+	14	4405	c.4346T>C	c.(4345-4347)CTG>CCG	p.L1449P	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.L1166P|PARP14_uc003efs.1_Missense_Mutation_p.L1166P	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		CTACAAGACCTGATTGAAAAA	0.398													C	122437344	T	C	122437344	3	2	248	1	0	0	0	0	1	0	0	0	11458	1580	55	3	4400	3	PARP14	3	122437344	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1937437	122437344	75585086	390	122397											
PDIA5	10954	broad.mit.edu	37	chr3	122829827	122829827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaaggaagagaagccgCtcctgatcatgttttatgcc	11	8	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:122829827C>T	uc003egc.1	+	7	573	c.517C>T	c.(517-519)CTC>TTC	p.L173F	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	173	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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		AGAGAAGCCGCTCCTGATCAT	0.537													T	122829827	C	T	122829827	3	4	248	1	0	0	0	0	1	0	0	0	11671	797	28	2	543	2	PDIA5	3	122829827	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	392483	122829827	75192603	391	122398											
MYLK	4638	broad.mit.edu	37	chr3	123333119	123333119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcagttcccgtcctcatCgtagtctatctggaagtggc	11	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:123333119C>T	uc003ego.2	-	34	5860	c.5578G>A	c.(5578-5580)GAT>AAT	p.D1860N	uc003egk.2_Intron|MYLK_uc003egl.2_Missense_Mutation_p.D100N|MYLK_uc003egm.2_Missense_Mutation_p.D99N|MYLK_uc010hrr.2_Missense_Mutation_p.D295N|MYLK_uc011bjv.1_Missense_Mutation_p.D660N|MYLK_uc011bjw.1_Missense_Mutation_p.D1859N|MYLK_uc003egp.2_Missense_Mutation_p.D1791N|MYLK_uc003egq.2_Missense_Mutation_p.D1809N|MYLK_uc003egr.2_Missense_Mutation_p.D1740N|MYLK_uc003egs.2_Missense_Mutation_p.D1684N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1860	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCGTCCTCATCGTAGTCTATC	0.512													T	123333119	C	T	123333119	3	4	248	1	0	0	0	0	1	0	0	0	10056	884	31	1	170	1	MYLK	3	123333119	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	503292	123333119	74689311	392	122399											
CCDC37	348807	broad.mit.edu	37	chr3	126138498	126138499	+	Frame_Shift_Del	DEL	AG	AG	-													agtgagatctccagatttgaAgacactctgaagcattacaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:126138498_126138499delAG	uc003eiu.1	+	9	849_850	c.750_751delAG	c.(748-753)GAAGACfs	p.E250fs	CCDC37_uc010hsg.1_Frame_Shift_Del_p.E251fs	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	250_251	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		CCAGATTTGAAGACACTCTGAA	0.53													-	126138499	AG	-	126138498	7	5	248	1	0	1	0	1	0	0	0	0	2809	69	3	0	780	0	CCDC37	3	126138498	Frame_Shift_Del	DEL	AG	TCGA-FP-A4BE-01A-12D-A24D-08	2805379	126138498	71883932	393	122400											
PLXNA1	5361	broad.mit.edu	37	chr3	126708374	126708374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagtaccgcctggtgcAggatgcctacctgagccggc	15	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:126708374A>G	uc003ejg.2	+	1	873	c.869A>G	c.(868-870)CAG>CGG	p.Q290R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	313	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CGCCTGGTGCAGGATGCCTAC	0.647													G	126708374	A	G	126708374	3	3	248	1	0	0	0	0	1	0	0	0	12119	188	7	3	940	3	PLXNA1	3	126708374	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	569876	126708374	71314056	394	122401											
SEC61A1	29927	broad.mit.edu	37	chr3	127774574	127774574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctttctattggatgagagTgattctagcctctaacagag	9	9	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:127774574T>A	uc003ekb.2	+	4	384	c.200T>A	c.(199-201)GTG>GAG	p.V67E	SEC61A1_uc003ekc.2_Missense_Mutation_p.V14E|SEC61A1_uc003ekd.2_Intron	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	67	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TGGATGAGAGTGATTCTAGCC	0.443													A	127774574	T	A	127774574	3	1	248	1	0	0	0	0	1	0	0	0	14000	1696	59	5	214	5	SEC61A1	3	127774574	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1066200	127774574	70247856	395	122402											
IFT122	55764	broad.mit.edu	37	chr3	129183577	129183578	+	Frame_Shift_Ins	INS	-	-	G													aagtaaagatcgagcggccgINSgggggctccctctcgccaat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:129183576_129183577C>CG	uc003eml.3	+	7	874_875	c.668_669C>CG	c.(667-669)ccgfs	p.P223fs	IFT122_uc003emm.3_Frame_Shift_Ins_p.P172fs|IFT122_uc003emn.3_Frame_Shift_Ins_p.P172fs|IFT122_uc003emo.3_Frame_Shift_Ins_p.P120fs|IFT122_uc003emp.3_Frame_Shift_Ins_p.P22fs|IFT122_uc010htc.3_Frame_Shift_Ins_p.P223fs|IFT122_uc011bky.2_Frame_Shift_Ins_p.P22fs|IFT122_uc011bla.2_Frame_Shift_Ins_p.P22fs|IFT122_uc003emr.3_Frame_Shift_Ins_p.P22fs|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	172					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.P223P(2)		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						ATCGAGCGGCCGGGGGGCTCCC	0.505													G	129183578	-	G	129183577	7	5	248	1	0	1	1	0	0	0	0	0	7555	1103	39	0	699	0	IFT122	3	129183577	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1409003	129183577	68838853	396	122403											
COL6A6	131873	broad.mit.edu	37	chr3	130285959	130285959	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgagagaagagcacatcCgagtttatgctatcgggatc	12	8	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:130285959C>T	uc010htl.2	+	4	1727	c.1696C>T	c.(1696-1698)CGA>TGA	p.R566*		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	566	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGAGCACATCCGAGTTTATGC	0.468													T	130285959	C	T	130285959	4	4	248	1	0	0	0	0	0	1	0	0	3703	644	23	1	1710	1	COL6A6	3	130285959	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1102382	130285959	67736471	397	122404											
ASTE1	28990	broad.mit.edu	37	chr3	130737545	130737545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaacagaagcatctgccGcctcctcaaggagagctgaa	9	12	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:130737545G>A	uc003env.1	-	4	1760	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	ASTE1_uc010htm.1_Missense_Mutation_p.R440W|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	440					DNA repair		nuclease activity				0						AGCATCTGCCGCCTCCTCAAG	0.433													A	130737545	G	A	130737545	3	1	248	1	0	0	0	0	1	0	0	0	1062	1086	38	1	733	1	ASTE1	3	130737545	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	451586	130737545	67284885	398	122405											
SLCO2A1	6578	broad.mit.edu	37	chr3	133673823	133673823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcacagatgtacaggggCgagttgctgggctctgagaa	15	8	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:133673823C>T	uc003eqa.3	-	4	886	c.612G>A	c.(610-612)TCG>TCA	p.S204S	SLCO2A1_uc003eqb.3_Intron|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Silent_p.S36S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	204	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TGTACAGGGGCGAGTTGCTGG	0.577													T	133673823	C	T	133673823	2	4	248	1	0	0	0	0	0	0	0	1	14726	755	27	1		1	SLCO2A1	3	133673823	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2936278	133673823	64348607	399	122406											
AMOTL2	51421	broad.mit.edu	37	chr3	134080614	134080614	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcagtgccatctctcGctccagcttctcttgctcct	8	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:134080614G>A	uc003eqf.2	-	6	1606	c.1489C>T	c.(1489-1491)CGA>TGA	p.R497*	AMOTL2_uc003eqg.1_Nonsense_Mutation_p.R439*|AMOTL2_uc003eqh.1_Nonsense_Mutation_p.R439*|AMOTL2_uc003eqe.1_Nonsense_Mutation_p.R64*	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	439	Potential.									large_intestine(1)	1						GCCATCTCTCGCTCCAGCTTC	0.617													A	134080614	G	A	134080614	4	1	248	1	0	0	0	0	0	1	0	0	584	1095	38	1	1047	1	AMOTL2	3	134080614	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	406791	134080614	63941816	400	122407											
DZIP1L	199221	broad.mit.edu	37	chr3	137790505	137790505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggctgcccgtctggcTgggacaccacagcgccattc	12	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:137790505T>C	uc003erq.2	-	12	1958	c.1595A>G	c.(1594-1596)CAG>CGG	p.Q532R	DZIP1L_uc003err.1_Missense_Mutation_p.Q532R	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	532						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CCCGTCTGGCTGGGACACCAC	0.552													C	137790505	T	C	137790505	3	2	248	1	0	0	0	0	1	0	0	0	4864	1580	55	3	737	3	DZIP1L	3	137790505	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3709891	137790505	60231925	401	122408											
DBR1	51163	broad.mit.edu	37	chr3	137880857	137880857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggcaccttggttaagtcCtctccattccctgactccac	6	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:137880857C>A	uc003erv.2	-	8	1645	c.1509G>T	c.(1507-1509)GAG>GAT	p.E503D	DBR1_uc003eru.2_Missense_Mutation_p.E452D|DBR1_uc003ert.2_Missense_Mutation_p.E271D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	503						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TGGTTAAGTCCTCTCCATTCC	0.458													A	137880857	C	A	137880857	3	1	248	1	0	0	0	0	1	0	0	0	4257	680	24	5	129	5	DBR1	3	137880857	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	90352	137880857	60141573	402	122409											
PIK3CB	5291	broad.mit.edu	37	chr3	138474615	138474615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcctataaggactccAatttttgagtctaatttttc	4	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:138474615A>G	uc011bmq.1	-	2	378	c.378T>C	c.(376-378)ATT>ATC	p.I126I		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	126					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			breast(2)|ovary(1)|lung(1)|skin(1)	5						TAAGGACTCCAATTTTTGAGT	0.254													G	138474615	A	G	138474615	2	3	248	1	0	0	0	0	0	0	0	1	11914	126	5	3		3	PIK3CB	3	138474615	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	593758	138474615	59547815	403	122410											
CLSTN2	64084	broad.mit.edu	37	chr3	140178590	140178590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccgagaaggaaaccatcCtctgcaactcagacaaaacc	8	13	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:140178590C>A	uc003etn.2	+	7	1391	c.1201C>A	c.(1201-1203)CTC>ATC	p.L401I	CLSTN2_uc003etm.2_Missense_Mutation_p.L401I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	401	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						GGAAACCATCCTCTGCAACTC	0.572										HNSCC(16;0.037)			A	140178590	C	A	140178590	3	1	248	1	0	0	0	0	1	0	0	0	3562	681	24	5	1227	5	CLSTN2	3	140178590	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1703975	140178590	57843840	404	122411											
TFDP2	7029	broad.mit.edu	37	chr3	141682772	141682772	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttgctgctcattttgtcGatttctctgtaccaggtttt	8	8	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:141682772G>A	uc003eun.3	-	10	1145	c.766C>T	c.(766-768)CGA>TGA	p.R256*	TFDP2_uc003euk.3_Nonsense_Mutation_p.R169*|TFDP2_uc010hur.2_Nonsense_Mutation_p.R196*|TFDP2_uc003eul.3_Nonsense_Mutation_p.R196*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.R159*|TFDP2_uc011bng.1_Nonsense_Mutation_p.R120*|TFDP2_uc003eum.3_Nonsense_Mutation_p.R196*	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	256	Dimerization (Potential).|DCB1.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						TCATTTTGTCGATTTCTCTGT	0.378													A	141682772	G	A	141682772	4	1	248	1	0	0	0	0	0	1	0	0	15795	1066	37	1	590	1	TFDP2	3	141682772	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1504182	141682772	56339658	405	122412											
TRPC1	7220	broad.mit.edu	37	chr3	142443437	142443437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgagcacggacctctcGggcgcctcctcctcctccct	8	21	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:142443437G>A	uc003evc.2	+	1	172	c.36G>A	c.(34-36)TCG>TCA	p.S12S	TRPC1_uc003evb.2_Silent_p.S12S	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	12	Cytoplasmic (Potential).				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			ovary(2)	2						CGGACCTCTCGGGCGcctcct	0.577													A	142443437	G	A	142443437	2	1	248	1	0	0	0	0	0	0	0	1	16575	1103	39	1		1	TRPC1	3	142443437	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	760665	142443437	55578993	406	122413											
PLOD2	5352	broad.mit.edu	37	chr3	145799625	145799625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaccacagctttccatgacGagttacaagaggagcaatga	11	9	0	3	rs142041189		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:145799625G>A	uc003evs.1	-	12	1764	c.1258C>T	c.(1258-1260)CGT>TGT	p.R420C	PLOD2_uc003evq.1_Missense_Mutation_p.R80C|PLOD2_uc011bnm.1_Missense_Mutation_p.R365C|PLOD2_uc003evr.1_Missense_Mutation_p.R420C	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	420					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TTTCCATGACGAGTTACAAGA	0.373													A	145799625	G	A	145799625	3	1	248	1	0	0	0	0	1	0	0	0	12102	1058	37	1	1054	1	PLOD2	3	145799625	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3356188	145799625	52222805	407	122414											
SIAH2	6478	broad.mit.edu	37	chr3	150460455	150460455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggtttctccgtatggtGcagggtcagggaacagcccg	14	10	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:150460455G>A	uc003eyi.2	-	2	1075	c.448C>T	c.(448-450)CAC>TAC	p.H150Y		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	150	SIAH-type.|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			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCCGTATGGTGCAGGGTCAGG	0.512													A	150460455	G	A	150460455	3	1	248	1	0	0	0	0	1	0	0	0	14300	1319	46	2	530	2	SIAH2	3	150460455	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4660830	150460455	47561975	408	122415											
GPR149	344758	broad.mit.edu	37	chr3	154145430	154145430	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggccagcagggtaAgtagaaagctgaatgtctcc	14	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:154145430A>C	uc003faa.2	-	2	1149	c.1049T>G	c.(1048-1050)CTT>CGT	p.L350R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	350	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAGCAGGGTAAGTAGAAAGCT	0.527													C	154145430	A	C	154145430	3	2	248	1	0	0	0	0	1	0	0	0	6654	72	3	5	1158	5	GPR149	3	154145430	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3684975	154145430	43877000	409	122416											
SSR3	6747	broad.mit.edu	37	chr3	156261014	156261014	+	Frame_Shift_Del	DEL	A	A	-													atttggagccagtagacaggAgggcgatgagtcctgatgaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:156261013_156261013GA>G	uc011bop.2	-	4	671	c.576_576TC>C	c.(574-576)ctcfs	p.L192fs	SSR3_uc003fau.3_Frame_Shift_Del_p.L179fs	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA.	179					cotranslational protein targeting to membrane	Sec61 translocon complex|integral to endoplasmic reticulum membrane|microsome	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGTAGACAGGAGGGCGATGA	0.443													-	156261014	A	-	156261014	7	5	248	1	0	1	0	1	0	0	0	0	15191	304	11	0	25	0	SSR3	3	156261014	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	2115584	156261014	41761416	410	122417											
RARRES1	5918	broad.mit.edu	37	chr3	158415580	158415580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttaagaggtttgccagGgtaccagaccaagtgaatgc	11	9	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:158415580G>A	uc003fci.2	-	6	843	c.772C>T	c.(772-774)CCT>TCT	p.P258S		NM_206963	NP_996846	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene	258	Extracellular (Potential).				negative regulation of cell proliferation	integral to membrane					0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	GGTTTGCCAGGGTACCAGACC	0.393													A	158415580	G	A	158415580	3	1	248	1	0	0	0	0	1	0	0	0	13055	1232	43	4	116	4	RARRES1	3	158415580	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2154566	158415580	39606850	411	122418											
IFT80	57560	broad.mit.edu	37	chr3	160021774	160021774	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggtgtgttccagttcttCgtgctaaaagacaagtaaaa	9	6	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:160021774C>T	uc011boy.1	-	11	1513	c.1080G>A	c.(1078-1080)ACG>ACA	p.T360T	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.T223T|IFT80_uc003fdd.1_Silent_p.T43T|IFT80_uc003fde.1_Silent_p.T223T	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	360						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCAGTTCTTCGTGCTAAAAG	0.274													T	160021774	C	T	160021774	2	4	248	1	0	0	0	0	0	0	0	1	7564	871	31	1		1	IFT80	3	160021774	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1606194	160021774	38000656	412	122419											
NMD3	51068	broad.mit.edu	37	chr3	160958887	160958887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcctgggaaatatgaaCcagatttgtgtgtgtattcg	11	6	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:160958887C>T	uc003feb.1	+	10	926	c.807C>T	c.(805-807)AAC>AAT	p.N269N	NMD3_uc003fec.2_Silent_p.N269N|NMD3_uc003fed.1_Silent_p.N269N|NMD3_uc010hwh.2_Silent_p.N89N	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	269					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GAAATATGAACCAGATTTGTG	0.383													T	160958887	C	T	160958887	2	4	248	1	0	0	0	0	0	0	0	1	10488	506	18	4		4	NMD3	3	160958887	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	937113	160958887	37063543	413	122420											
BCHE	590	broad.mit.edu	37	chr3	165548207	165548207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctatatttttttgaacCcactgaagagccaactgttg	8	9	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:165548207C>A	uc003fem.3	-	2	775	c.615G>T	c.(613-615)TGG>TGT	p.W205C	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	205					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			ovary(3)|pancreas(1)	4					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)	TTTTTTGAACCCACTGAAGAG	0.448													A	165548207	C	A	165548207	3	1	248	1	0	0	0	0	1	0	0	0	1358	624	22	5	1205	5	BCHE	3	165548207	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4589320	165548207	32474223	414	122421											
NCEH1	57552	broad.mit.edu	37	chr3	172365825	172365826	+	Frame_Shift_Ins	INS	-	-	T													ttgggcagaagaccacgcgcINStttttttgccaaaagaaaca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:172365825_172365826insT	uc011bpx.1	-	2	451_452	c.313_314insA	c.(313-315)AGCfs	p.S105fs	NCEH1_uc003fig.2_Frame_Shift_Ins_p.S105fs|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	73	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						AGACCACGCGCTTTTTTTGCCA	0.505													T	172365826	-	T	172365825	7	5	248	1	0	1	1	0	0	0	0	0	10215	797	28	0	1048	0	NCEH1	3	172365825	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	6817618	172365825	25656605	415	122422	631	2									
NCEH1	57552	broad.mit.edu	37	chr3	172365826	172365827	+	Frame_Shift_Ins	INS	-	-	T													tgggcagaagaccacgcgctINSttttttgccaaaagaaacaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:172365825_172365826C>CT	uc011bpx.2	-	1	451_452	c.313_314G>AG	c.(313-315)agcfs	p.S105fs	NCEH1_uc003fig.3_Frame_Shift_Ins_p.S105fs|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_Intron	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	73					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						AGACCACGCGCTTTTTTTGCCA	0.505													T	172365827	-	T	172365826	7	5	248	1	0	1	1	0	0	0	0	0	10215	1609	56	0	1049	0	NCEH1	3	172365826	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	172365826	25656604	416	122423	631	2									
NLGN1	22871	broad.mit.edu	37	chr3	173322630	173322630	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctgttattcaatttcTtggggttccatatgcagccc	11	10	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:173322630T>A	uc003fio.1	+	3	665	c.242T>A	c.(241-243)CTT>CAT	p.L81H	NLGN1_uc010hww.1_Missense_Mutation_p.L81H|NLGN1_uc003fip.1_Missense_Mutation_p.L81H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	81	Extracellular (Potential).				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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTCAATTTCTTGGGGTTCCA	0.458													A	173322630	T	A	173322630	3	1	248	1	0	0	0	0	1	0	0	0	10461	1609	56	5	244	5	NLGN1	3	173322630	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	956804	173322630	24699800	417	122424											
TBL1XR1	79718	broad.mit.edu	37	chr3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-													catttgctgtgttttctccaTtttttgcagatccttgttgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:176769342delT	uc003fiw.3	-	5	637	c.377delA	c.(376-378)AATfs	p.N126fs	TBL1XR1_uc003fix.3_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	126					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			ovary(1)	1	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)			GTTTTCTCCATTTTTTGCAGA	0.418													-	176769342	T	-	176769342	7	5	248	1	0	1	0	1	0	0	0	0	15637	1493	52	0	1215	0	TBL1XR1	3	176769342	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	3446712	176769342	21253088	418	122425											
ABCC5	10057	broad.mit.edu	37	chr3	183665245	183665245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagccagccaccgcatcGcacacgtaaacaaaaaaaaa	6	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:183665245G>A	uc003fmg.2	-	23	3446	c.3281C>T	c.(3280-3282)GCG>GTG	p.A1094V	ABCC5_uc011bqt.1_Missense_Mutation_p.A622V|ABCC5_uc010hxl.2_Missense_Mutation_p.A1051V	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1094	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACCGCATCGCACACGTAAA	0.527													A	183665245	G	A	183665245	3	1	248	1	0	0	0	0	1	0	0	0	56	1087	38	1	1064	1	ABCC5	3	183665245	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6895903	183665245	14357185	419	122426											
DVL3	1857	broad.mit.edu	37	chr3	183888136	183888136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggctccaaccgtagcGgcagcgatcggaggaaggag	17	10	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:183888136G>A	uc003fms.2	+	15	1884	c.1744G>A	c.(1744-1746)GGC>AGC	p.G582S	DVL3_uc011bqw.1_Missense_Mutation_p.G565S|DVL3_uc003fmt.2_Missense_Mutation_p.G253S|DVL3_uc003fmu.2_Missense_Mutation_p.G414S	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	582					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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAACCGTAGCGGCAGCGATCG	0.701													A	183888136	G	A	183888136	3	1	248	1	0	0	0	0	1	0	0	0	4837	1116	39	1	1802	1	DVL3	3	183888136	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	222891	183888136	14134294	420	122427											
ABCF3	55324	broad.mit.edu	37	chr3	183906045	183906045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccacccggagtctgcGggttccagcccacatttccc	11	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:183906045G>A	uc003fmz.2	+	7	819	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	ABCF3_uc003fna.2_Missense_Mutation_p.R223Q|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	229	ABC transporter 1.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGAGTCTGCGGGTTCCAGCC	0.612													A	183906045	G	A	183906045	3	1	248	1	0	0	0	0	1	0	0	0	67	1116	39	1	712	1	ABCF3	3	183906045	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	17909	183906045	14116385	421	122428											
ECE2	9718	broad.mit.edu	37	chr3	184009927	184009927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccctgcccgcttccgCgtgctgggcactctctccaa	9	19	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184009927C>T	uc003fni.3	+	19	2591	c.2553C>T	c.(2551-2553)CGC>CGT	p.R851R	ECE2_uc003fnl.3_Silent_p.R779R|ECE2_uc003fnm.3_Silent_p.R733R|ECE2_uc003fnk.3_Silent_p.R704R	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	851	Lumenal (Potential).|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			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTTCCGCGTGCTGGGCA	0.672													T	184009927	C	T	184009927	2	4	248	1	0	0	0	0	0	0	0	1	4890	755	27	1		1	ECE2	3	184009927	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	103882	184009927	14012503	422	122429											
EIF4G1	1981	broad.mit.edu	37	chr3	184042726	184042726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggacatagcccggcggCgctctttagggaatatcaag	13	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184042726C>T	uc003fnp.2	+	18	2878	c.2680C>T	c.(2680-2682)CGC>TGC	p.R894C	EIF4G1_uc003fno.1_Missense_Mutation_p.R835C|EIF4G1_uc010hxw.1_Missense_Mutation_p.R730C|EIF4G1_uc003fnt.2_Missense_Mutation_p.R605C|EIF4G1_uc003fnq.2_Missense_Mutation_p.R807C|EIF4G1_uc003fnr.2_Missense_Mutation_p.R730C|EIF4G1_uc010hxx.2_Missense_Mutation_p.R901C|EIF4G1_uc003fns.2_Missense_Mutation_p.R854C|EIF4G1_uc010hxy.2_Missense_Mutation_p.R901C|EIF4G1_uc003fnv.3_Missense_Mutation_p.R895C|EIF4G1_uc003fnu.3_Missense_Mutation_p.R894C|EIF4G1_uc003fnw.2_Missense_Mutation_p.R901C|EIF4G1_uc003fnx.2_Missense_Mutation_p.R699C|EIF4G1_uc003fny.3_Missense_Mutation_p.R698C|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	894	eIF3/EIF4A-binding.			R -> C (in Ref. 1; BAA02185).	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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCCGGCGGCGCTCTTTAGG	0.478													T	184042726	C	T	184042726	3	4	248	1	0	0	0	0	1	0	0	0	5036	768	27	1	2742	1	EIF4G1	3	184042726	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	32799	184042726	13979704	423	122430											
EIF4G1	1981	broad.mit.edu	37	chr3	184049322	184049322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagggcactcccctccgaGgagctgaacaggcagctgga	14	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184049322G>T	uc003fnp.2	+	30	4521	c.4323G>T	c.(4321-4323)GAG>GAT	p.E1441D	EIF4G1_uc003fnt.2_Missense_Mutation_p.E1152D|EIF4G1_uc003fnq.2_Missense_Mutation_p.E1354D|EIF4G1_uc003fnr.2_Missense_Mutation_p.E1277D|EIF4G1_uc010hxx.2_Missense_Mutation_p.E1448D|EIF4G1_uc003fns.2_Missense_Mutation_p.E1401D|EIF4G1_uc010hxy.2_Missense_Mutation_p.E1448D|EIF4G1_uc003fnv.3_Missense_Mutation_p.E1442D|EIF4G1_uc003fnu.3_Missense_Mutation_p.E1441D|EIF4G1_uc003fnw.2_Missense_Mutation_p.E1448D|EIF4G1_uc003fnx.2_Missense_Mutation_p.E1246D|EIF4G1_uc003fny.3_Missense_Mutation_p.E1245D|EIF4G1_uc003foa.2_Missense_Mutation_p.E113D	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1441	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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCCTCCGAGGAGCTGAACA	0.567													T	184049322	G	T	184049322	3	4	248	1	0	0	0	0	1	0	0	0	5036	991	35	5	4433	5	EIF4G1	3	184049322	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6596	184049322	13973108	424	122431											
FAM131A	131408	broad.mit.edu	37	chr3	184060628	184060628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctatgatgaggactTtgctgggggaatggacacag	14	7	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184060628T>C	uc003fog.2	+	2	1876	c.512T>C	c.(511-513)TTT>TCT	p.F171S	FAM131A_uc003fob.1_Missense_Mutation_p.F79S|FAM131A_uc003foc.2_Missense_Mutation_p.F117S|FAM131A_uc003foe.2_Missense_Mutation_p.F117S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	171						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGAGGACTTTGCTGGGGGA	0.567													C	184060628	T	C	184060628	3	2	248	1	0	0	0	0	1	0	0	0	5439	1841	64	3	623	3	FAM131A	3	184060628	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	11306	184060628	13961802	425	122432											
IGF2BP2	10644	broad.mit.edu	37	chr3	185390367	185390367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggggggagctccgcGgggccctgctggtggagata	21	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:185390367G>A	uc003fpo.2	-	10	1241	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C	IGF2BP2_uc010hyi.2_Missense_Mutation_p.R331C|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R325C|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R252C|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R393C	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	388					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGAGCTCCGCGGGGCCCTGCT	0.597													A	185390367	G	A	185390367	3	1	248	1	0	0	0	0	1	0	0	0	7574	1116	39	1	665	1	IGF2BP2	3	185390367	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1329739	185390367	12632063	426	122433											
LPP	4026	broad.mit.edu	37	chr3	188327501	188327501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccaaatacctggaaaCgggaaccagggtacactcct	9	13	1	0	rs140900775	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:188327501C>T	uc003frs.1	+	6	1228	c.982C>T	c.(982-984)CGG>TGG	p.R328W	LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.R328W|LPP_uc003frt.2_Missense_Mutation_p.R328W|LPP_uc011bsj.1_Missense_Mutation_p.R165W	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	328	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	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)		TACCTGGAAACGGGAACCAGG	0.522			T	HMGA2|MLL|C12orf9	lipoma|leukemia								T	188327501	C	T	188327501	3	4	248	1	0	0	0	0	1	0	0	0	8923	527	19	1	996	1	LPP	3	188327501	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2937134	188327501	9694929	427	122434											
LEPREL1	55214	broad.mit.edu	37	chr3	189681886	189681886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattttggttttatagagGcctgagaaagaaagcaaaaa	9	5	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:189681886G>A	uc011bsk.1	-	14	2283	c.1895C>T	c.(1894-1896)GCC>GTC	p.A632V	LEPREL1_uc003fsg.2_Missense_Mutation_p.A451V	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	632	Fe2OG dioxygenase.				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			breast(3)|ovary(1)	4	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)	TTTTATAGAGGCCTGAGAAAG	0.438													A	189681886	G	A	189681886	3	1	248	1	0	0	0	0	1	0	0	0	8730	1217	42	2	239	2	LEPREL1	3	189681886	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1354385	189681886	8340544	428	122435											
MUC4	4585	broad.mit.edu	37	chr3	195474185	195474185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagatgccgaagaacgcGtcgagtttcatgctcaggtg	13	8	2	3	rs138397680	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:195474185G>A	uc011bto.1	-	26	16177	c.15717C>T	c.(15715-15717)GAC>GAT	p.D5239D	MUC4_uc010hzq.2_Silent_p.D224D|MUC4_uc003fuz.2_Silent_p.D965D|MUC4_uc003fva.2_Silent_p.D847D|MUC4_uc003fvb.2_Silent_p.D883D|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.D883D|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.D847D|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.D931D|MUC4_uc011bti.1_Silent_p.D931D|MUC4_uc011btj.1_Silent_p.D1108D|MUC4_uc011btk.1_Silent_p.D847D|MUC4_uc011btl.1_Silent_p.D876D|MUC4_uc011btm.1_Silent_p.D1056D|MUC4_uc011btn.1_Silent_p.D847D|MUC4_uc003fvo.2_Silent_p.D1131D|MUC4_uc003fvp.2_Silent_p.D1080D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2124					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		CGAAGAACGCGTCGAGTTTCA	0.632													A	195474185	G	A	195474185	2	1	248	1	0	0	0	0	0	0	0	1	9978	1136	40	1		1	MUC4	3	195474185	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5792299	195474185	2548245	429	122436											
LRRC33	375387	broad.mit.edu	37	chr3	196387312	196387312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagctgctgttcttcccGctgctgccccagtacagcaa	8	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:196387312G>A	uc003fwv.2	+	3	902	c.798G>A	c.(796-798)CCG>CCA	p.P266P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	266	Extracellular (Potential).|LRR 9.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-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;0.00326)		TGTTCTTCCCGCTGCTGCCCC	0.622													A	196387312	G	A	196387312	2	1	248	1	0	0	0	0	0	0	0	1	8988	1074	38	1		1	LRRC33	3	196387312	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	913127	196387312	1635118	430	122437											
NCBP2	22916	broad.mit.edu	37	chr3	196664509	196664509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttttccgcatctgcgcGtgagtaatatcttaagtatt	10	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:196664509G>A	uc003fxd.1	-	3	361	c.271C>T	c.(271-273)CGC>TGC	p.R91C	NCBP2_uc003fxb.1_Missense_Mutation_p.R21C|NCBP2_uc011btz.1_Missense_Mutation_p.R73C|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Intron|NCBP2_uc003fxf.2_3'UTR	NM_007362	NP_031388	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	91	RRM.				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				0	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)		GCATCTGCGCGTGAGTAATAT	0.443													A	196664509	G	A	196664509	3	1	248	1	0	0	0	0	1	0	0	0	10212	1145	40	1	207	1	NCBP2	3	196664509	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	277197	196664509	1357921	431	122438											
NCBP2	22916	broad.mit.edu	37	chr3	196666260	196666260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagatttccaacatataacGtacagcttttcttcagtaat	4	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:196666260G>A	uc003fxd.1	-	2	212	c.122C>T	c.(121-123)ACG>ATG	p.T41M	NCBP2_uc003fxb.1_Translation_Start_Site|NCBP2_uc011btz.1_Missense_Mutation_p.T23M|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Intron|NCBP2_uc003fxf.2_Missense_Mutation_p.T41M	NM_007362	NP_031388	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	41	RRM.				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				0	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)		AACATATAACGTACAGCTTTT	0.323													A	196666260	G	A	196666260	3	1	248	1	0	0	0	0	1	0	0	0	10212	1145	40	1	360	1	NCBP2	3	196666260	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1751	196666260	1356170	432	122439											
KIAA0226	9711	broad.mit.edu	37	chr3	197408196	197408196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcagcactggcagaagTacttgcccaggtactcacag	12	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:197408196T>C	uc003fyc.2	-	16	2417	c.2234A>G	c.(2233-2235)TAC>TGC	p.Y745C	KIAA0226_uc003fyd.3_Missense_Mutation_p.Y700C|KIAA0226_uc003fye.1_Missense_Mutation_p.Y477C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	745					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	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)		CTGGCAGAAGTACTTGCCCAG	0.527													C	197408196	T	C	197408196	3	2	248	1	0	0	0	0	1	0	0	0	8162	1638	57	3	704	3	KIAA0226	3	197408196	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	741936	197408196	614234	433	122440											
ZNF718	255403	broad.mit.edu	37	chr4	155539	155539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataggtccacaactcttaCgacacataagagaatccata	5	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:155539C>T	uc003fzt.3	+	8	1197	c.1064C>T	c.(1063-1065)ACG>ATG	p.T355M	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Nonsense_Mutation_p.R135*	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	355	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		ACAACTCTTACGACACATAAG	0.378													T	155539	C	T	155539	3	4	248	1	0	0	0	0	1	0	0	0	18117	536	19	1	1078	1	ZNF718	4	155539	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08		155539	190998737	434	122441											
GAK	2580	broad.mit.edu	37	chr4	860756	860756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtaccagcggcaggggGccctcctcttggggtgctct	14	14	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:860756G>A	uc003gbm.3	-	21	3059	c.2860C>T	c.(2860-2862)CCC>TCC	p.P954S	GAK_uc003gbn.3_Missense_Mutation_p.P875S|GAK_uc010ibk.1_Missense_Mutation_p.P848S|GAK_uc010ibi.2_Missense_Mutation_p.P135S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.P818S	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	954					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GCGGCAGGGGGCCCTCCTCTT	0.642													A	860756	G	A	860756	3	1	248	1	0	0	0	0	1	0	0	0	6195	1203	42	2	1107	2	GAK	4	860756	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	705217	860756	190293520	435	122442											
SLC26A1	10861	broad.mit.edu	37	chr4	983845	983845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacgatgaccagcagctcCgtgggcagcggcaccctcag	12	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:983845C>T	uc003gcb.2	-	4	1260	c.882G>A	c.(880-882)ACG>ACA	p.T294T	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Silent_p.T294T	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	294	Helical; (Potential).					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAGCAGCTCCGTGGGCAGCG	0.667													T	983845	C	T	983845	2	4	248	1	0	0	0	0	0	0	0	1	14514	639	23	1		1	SLC26A1	4	983845	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	123089	983845	190170431	436	122443											
FGFRL1	53834	broad.mit.edu	37	chr4	1018877	1018877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcctgggcaccgcccGccggggacggcccgcgaccg	15	21	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1018877G>A	uc003gce.2	+	7	1418	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P	FGFRL1_uc003gcf.2_Silent_p.P419P|FGFRL1_uc003gcg.2_Silent_p.P419P|FGFRL1_uc010ibo.2_Silent_p.P419P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	419	Cytoplasmic (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCACCGCCCGCCGGGGACGG	0.721													A	1018877	G	A	1018877	2	1	248	1	0	0	0	0	0	0	0	1	5869	1074	38	1		1	FGFRL1	4	1018877	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	35032	1018877	190135399	437	122444											
FAM53A	152877	broad.mit.edu	37	chr4	1643124	1643124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccccgctgctcctgcGggagccatcactggtcaccg	14	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1643124G>A	uc011bve.1	-	5	1291	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C	FAM53A_uc010ibw.2_3'UTR	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	365						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTGCTCCTGCGGGAGCCATCA	0.682													A	1643124	G	A	1643124	3	1	248	1	0	0	0	0	1	0	0	0	5579	1116	39	1	107	1	FAM53A	4	1643124	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	624247	1643124	189511152	438	122445											
FAM53A	152877	broad.mit.edu	37	chr4	1656811	1656811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacgcaaggctgtgagCggcaccggagcagcccacgg	16	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1656811C>T	uc011bve.1	-	4	974	c.776G>A	c.(775-777)CGC>CAC	p.R259H	FAM53A_uc010ibw.2_Missense_Mutation_p.R259H	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	259						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			AGGCTGTGAGCGGCACCGGAG	0.706													T	1656811	C	T	1656811	3	4	248	1	0	0	0	0	1	0	0	0	5579	768	27	1	428	1	FAM53A	4	1656811	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	13687	1656811	189497465	439	122446											
FGFR3	2261	broad.mit.edu	37	chr4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaggcatcctcagctacGgggtgggcttcttcctgttc	12	12	2	0	rs28931614		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1806119G>A	uc003gdr.3	+	9	1394	c.1138G>A	c.(1138-1140)GGG>AGG	p.G380R	FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	380	Helical; (Potential).				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(15)|p.G380E(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		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		Muenke_syndrome|Saethre-Chotzen_syndrome				A	1806119	G	A	1806119	3	1	248	1	0	0	0	0	1	0	0	0	5867	1116	39	1	1323	1	FGFR3	4	1806119	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	149308	1806119	189348157	440	122447											
ZFYVE28	57732	broad.mit.edu	37	chr4	2307175	2307175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggtccctgcacgtctgCgcggatggggaactccacgt	15	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:2307175C>T	uc003gex.1	-	8	1211	c.892G>A	c.(892-894)GCA>ACA	p.A298T	ZFYVE28_uc011bvk.1_Missense_Mutation_p.A228T|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A268T|ZFYVE28_uc003gew.1_Missense_Mutation_p.A184T	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	298					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						TGCACGTCTGCGCGGATGGGG	0.637													T	2307175	C	T	2307175	3	4	248	1	0	0	0	0	1	0	0	0	17667	768	27	1	1795	1	ZFYVE28	4	2307175	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	501056	2307175	188847101	441	122448											
TNIP2	79155	broad.mit.edu	37	chr4	2749545	2749545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcactggcggcccgggcgCgctccccttctgccatgctc	12	19	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:2749545C>T	uc003gfg.2	-	2	491	c.404G>A	c.(403-405)CGC>CAC	p.R135H	TNIP2_uc003gff.2_Missense_Mutation_p.R28H|TNIP2_uc003gfh.2_Missense_Mutation_p.R135H	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	135						cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCCCGGGCGCGCTCCCCTTC	0.642													T	2749545	C	T	2749545	3	4	248	1	0	0	0	0	1	0	0	0	16312	768	27	1	905	1	TNIP2	4	2749545	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	442370	2749545	188404731	442	122449											
GRK4	2868	broad.mit.edu	37	chr4	2986251	2986252	+	Frame_Shift_Ins	INS	-	-	A													aaattcaggaggatatggcaINSaaaaaagtggtcgtagtaaa					rs141511339		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:2986250_2986251C>CA	uc003ggn.1	+	1	518_519	c.63_64C>CA	c.(61-66)ggcaaafs	p.G21fs	GRK4_uc003ggo.1_Frame_Shift_Ins_p.G21fs|GRK4_uc003ggp.1_Intron|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	21	N-terminal.					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)		GAGGATATGGCAAAAAAAGTGG	0.381													A	2986252	-	A	2986251	7	5	248	1	0	1	1	0	0	0	0	0	6791	131	5	0	70	0	GRK4	4	2986251	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	236706	2986251	188168025	443	122450											
ADRA2C	152	broad.mit.edu	37	chr4	3768788	3768788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcctggaccgctactggtCggtgacgcaggccgtcgagt	15	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:3768788C>T	uc003ghm.2	+	1	493	c.455C>T	c.(454-456)TCG>TTG	p.S152L	ADRA2C_uc010icx.2_Missense_Mutation_p.S152L	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	152	Cytoplasmic (By similarity).				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				0				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)	CGCTACTGGTCGGTGACGCAG	0.637													T	3768788	C	T	3768788	3	4	248	1	0	0	0	0	1	0	0	0	339	893	31	1	457	1	ADRA2C	4	3768788	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	782537	3768788	187385488	444	122451											
STK32B	55351	broad.mit.edu	37	chr4	5170044	5170044	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtatgcatcgtgcagaagCgagacactaagaaaatgtat	11	6	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:5170044C>T	uc003gih.1	+	3	191	c.127C>T	c.(127-129)CGA>TGA	p.R43*	STK32B_uc010ida.1_5'UTR	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	43	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CGTGCAGAAGCGAGACACTAA	0.483													T	5170044	C	T	5170044	4	4	248	1	0	0	0	0	0	1	0	0	15297	760	27	1	137	1	STK32B	4	5170044	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1401256	5170044	185984232	445	122452											
MAN2B2	23324	broad.mit.edu	37	chr4	6578431	6578431	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgggatggcgtcgccTcggaccagcagaaataccag	15	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:6578431T>A	uc003gjf.1	+	2	301	c.265T>A	c.(265-267)TCG>ACG	p.S89T	MAN2B2_uc003gje.1_Missense_Mutation_p.S89T|MAN2B2_uc011bwf.1_Missense_Mutation_p.S89T	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	89					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TGGCGTCGCCTCGGACCAGCA	0.587													A	6578431	T	A	6578431	3	1	248	1	0	0	0	0	1	0	0	0	9217	1551	54	5	271	5	MAN2B2	4	6578431	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1408387	6578431	184575845	446	122453											
MAN2B2	23324	broad.mit.edu	37	chr4	6598853	6598853	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagaaccattccaggcCtggacgggcttctacacgtc	9	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:6598853C>A	uc003gjf.1	+	8	1107	c.1071C>A	c.(1069-1071)GCC>GCA	p.A357A	MAN2B2_uc003gje.1_Silent_p.A357A|MAN2B2_uc011bwf.1_Silent_p.A306A	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	357					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CATTCCAGGCCTGGACGGGCT	0.607													A	6598853	C	A	6598853	2	1	248	1	0	0	0	0	0	0	0	1	9217	668	24	5		5	MAN2B2	4	6598853	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	20422	6598853	184555423	447	122454											
CCDC96	257236	broad.mit.edu	37	chr4	7043563	7043563	+	Frame_Shift_Del	DEL	T	T	-													cggcgctcatctccttctccTttttatcctccaacgcctgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:7043562_7043562CT>C	uc003gjv.2	-	0	1167	c.1104_1104AG>G	c.(1102-1104)aagfs	p.K368fs	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	368										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCTCCTTCTCCTTTTTATCCT	0.607													-	7043563	T	-	7043563	7	5	248	1	0	1	0	1	0	0	0	0	2874	1609	56	0	568	0	CCDC96	4	7043563	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	444710	7043563	184110713	448	122455											
ABLIM2	84448	broad.mit.edu	37	chr4	8098833	8098833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacttactcaccggcagaCggcacacacgaagcagtcgg	10	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:8098833C>T	uc003gko.2	-	3	474	c.331G>A	c.(331-333)GTC>ATC	p.V111I	ABLIM2_uc003gkj.3_Missense_Mutation_p.V111I|ABLIM2_uc003gkm.3_Missense_Mutation_p.V111I|ABLIM2_uc003gkp.2_Missense_Mutation_p.V111I|ABLIM2_uc003gkq.2_Missense_Mutation_p.V111I|ABLIM2_uc003gkr.2_Missense_Mutation_p.V111I|ABLIM2_uc003gks.3_Missense_Mutation_p.V111I|ABLIM2_uc011bwl.1_Missense_Mutation_p.V116I	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	111	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CACCGGCAGACGGCACACACG	0.502													T	8098833	C	T	8098833	3	4	248	1	0	0	0	0	1	0	0	0	95	536	19	1	1736	1	ABLIM2	4	8098833	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1055270	8098833	183055443	449	122456											
BOD1L	259282	broad.mit.edu	37	chr4	13610189	13610189	+	Frame_Shift_Del	DEL	T	T	-													ctctttttgcttaaggctacTtttttttctaaaactttccg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:13610189delT	uc003gmz.1	-	8	1824	c.1707delA	c.(1705-1707)AAAfs	p.K569fs	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	569	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						TTAAGGCTACTTTTTTTTCTA	0.368													-	13610189	T	-	13610189	7	5	248	1	0	1	0	1	0	0	0	0	1483	1606	56	0	7524	0	BOD1L	4	13610189	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	5511356	13610189	177544087	450	122457											
PROM1	8842	broad.mit.edu	37	chr4	16000022	16000022	+	Frame_Shift_Del	DEL	A	A	-													tgatacctgtaaacttgttcAaaagtgagcttcatttttga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:16000022delA	uc003goo.2	-	14	1880	c.1668delT	c.(1666-1668)TTTfs	p.F556fs	PROM1_uc003gor.2_Frame_Shift_Del_p.F556fs|PROM1_uc003gos.2_Frame_Shift_Del_p.F547fs|PROM1_uc003got.2_Frame_Shift_Del_p.F556fs|PROM1_uc003gou.2_Frame_Shift_Del_p.F547fs|PROM1_uc003gop.2_Frame_Shift_Del_p.F547fs|PROM1_uc003goq.3_Frame_Shift_Del_p.F547fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	556	Extracellular (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						AAACTTGTTCAAAAGTGAGCT	0.303													-	16000022	A	-	16000022	7	5	248	1	0	1	0	1	0	0	0	0	12555	127	5	0	981	0	PROM1	4	16000022	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	2389833	16000022	175154254	451	122458											
PCDH7	5099	broad.mit.edu	37	chr4	30724271	30724271	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaacatcaaagacgagaaCgacaacgtgccgtccattga	8	11	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:30724271C>T	uc003gsk.1	+	1	2235	c.1227C>T	c.(1225-1227)AAC>AAT	p.N409N	PCDH7_uc011bxw.1_Silent_p.N362N|PCDH7_uc011bxx.1_Silent_p.N409N	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	409	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AAGACGAGAACGACAACGTGC	0.632													T	30724271	C	T	30724271	2	4	248	1	0	0	0	0	0	0	0	1	11516	535	19	1		1	PCDH7	4	30724271	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	14724249	30724271	160430005	452	122459											
PCDH7	5099	broad.mit.edu	37	chr4	30724750	30724750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacagcggtaagaacgccgAgatcgcctactcgctggact	12	12	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:30724750A>G	uc003gsk.1	+	1	2714	c.1706A>G	c.(1705-1707)GAG>GGG	p.E569G	PCDH7_uc011bxw.1_Missense_Mutation_p.E522G|PCDH7_uc011bxx.1_Missense_Mutation_p.E569G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	569	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AAGAACGCCGAGATCGCCTAC	0.607													G	30724750	A	G	30724750	3	3	248	1	0	0	0	0	1	0	0	0	11516	304	11	3	1708	3	PCDH7	4	30724750	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	479	30724750	160429526	453	122460											
FAM114A1	92689	broad.mit.edu	37	chr4	38916595	38916595	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agactggcacagcagctcacGatggagagaaccgcgcacta	12	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:38916595G>A	uc003gtn.2	+	8	1022	c.846G>A	c.(844-846)ACG>ACA	p.T282T	FAM114A1_uc011byh.1_Silent_p.T75T	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	282						cytoplasm				ovary(1)	1						AGCAGCTCACGATGGAGAGAA	0.463													A	38916595	G	A	38916595	2	1	248	1	0	0	0	0	0	0	0	1	5403	1045	37	1		1	FAM114A1	4	38916595	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8191845	38916595	152237681	454	122461											
RBM47	54502	broad.mit.edu	37	chr4	40428019	40428019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccatacatggcggccgCggctgccgcgttcttctgta	11	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:40428019C>T	uc003gvc.2	-	7	2394	c.1684G>A	c.(1684-1686)GCG>ACG	p.A562T	RBM47_uc003gvd.2_Missense_Mutation_p.A493T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A524T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	562	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(3)	3						ATGGCGGCCGCGGCTGCCGCG	0.592													T	40428019	C	T	40428019	3	4	248	1	0	0	0	0	1	0	0	0	13141	768	27	1	101	1	RBM47	4	40428019	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1511424	40428019	150726257	455	122462											
GRXCR1	389207	broad.mit.edu	37	chr4	43032508	43032508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaagccctgaagtgtaCggcttgcaatgaaaatggtc	10	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:43032508C>T	uc003gwt.2	+	4	824	c.824C>T	c.(823-825)ACG>ATG	p.T275M		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	275					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			ovary(1)	1						CTGAAGTGTACGGCTTGCAAT	0.443													T	43032508	C	T	43032508	3	4	248	1	0	0	0	0	1	0	0	0	6812	536	19	1	838	1	GRXCR1	4	43032508	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2604489	43032508	148121768	456	122463											
GABRA2	2555	broad.mit.edu	37	chr4	46334689	46334689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatgttagtgaagacttcAgtaatactgtctaatatgag	9	4	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:46334689A>G	uc003gxc.3	-	3	871	c.198T>C	c.(196-198)ACT>ACC	p.T66T	GABRA2_uc010igc.2_Silent_p.T66T|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Silent_p.T66T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	66	Extracellular (Probable).				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			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAGACTTCAGTAATACTGT	0.353													G	46334689	A	G	46334689	2	3	248	1	0	0	0	0	0	0	0	1	6161	175	7	3		3	GABRA2	4	46334689	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3302181	46334689	144819587	457	122464											
SGCB	6443	broad.mit.edu	37	chr4	52895079	52895080	+	Frame_Shift_Ins	INS	-	-	A													gctttgttgtcccttgctgaINSaaaacaatcttcaaaaaaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:52895078_52895079G>GA	uc003gzj.2	-	3	498_499	c.438_439C>TC	c.(436-441)tttcagfs	p.F146fs	SGCB_uc011bzp.1_Frame_Shift_Ins_p.F76fs	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	146	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCCCTTGCTGAAAAACAATCT	0.292													A	52895080	-	A	52895079	7	5	248	1	0	1	1	0	0	0	0	0	14200	243	9	0	530	0	SGCB	4	52895079	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	6560390	52895079	138259197	458	122465											
KDR	3791	broad.mit.edu	37	chr4	55964865	55964865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaattatttttttaccCgcttaacggtccgtaggatg	10	7	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:55964865C>T	uc003has.2	-	16	2674	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q	KDR_uc003hat.1_Missense_Mutation_p.R791Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	791	Cytoplasmic (Potential).				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			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	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)	TTTTTTTACCCGCTTAACGGT	0.418			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55964865	C	T	55964865	3	4	248	1	0	0	0	0	1	0	0	0	8139	666	23	1	1758	1	KDR	4	55964865	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3069786	55964865	135189411	459	122466											
IGFBP7	3490	broad.mit.edu	37	chr4	57907077	57907077	+	Frame_Shift_Del	DEL	G	G	-													gtgacattccagatgtccttGgggggcgtcactatggaagg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:57907076_57907076TG>T	uc003hcn.3	-	1	533	c.499_499CA>A	c.(499-501)aagfs	p.K167fs	IGFBP7_uc011cag.2_Frame_Shift_Del_p.K167fs	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	167	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGATGTCCTTGGGGGGCGTC	0.507													-	57907077	G	-	57907077	7	5	248	1	0	1	0	1	0	0	0	0	7584	1335	47	0	366	0	IGFBP7	4	57907077	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	1942212	57907077	133247199	460	122467											
EPHA5	2044	broad.mit.edu	37	chr4	66286254	66286255	+	Frame_Shift_Ins	INS	-	-	T													ctgttttttgcaattttcccINSttttttcacattggtgactg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:66286254_66286255insT	uc003hcy.2	-	6	1624_1625	c.1431_1432insA	c.(1429-1434)AAAGGGfs	p.K477fs	EPHA5_uc003hcx.2_Frame_Shift_Ins_p.K408fs|EPHA5_uc003hcz.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cah.1_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cai.1_Frame_Shift_Ins_p.K477fs|EPHA5_uc003hda.2_Frame_Shift_Ins_p.K477fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	477_478	Extracellular (Potential).|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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GCAATTTTCCCTTTTTTCACAT	0.356										TSP Lung(17;0.13)			T	66286255	-	T	66286254	7	5	248	1	0	1	1	0	0	0	0	0	5170	681	24	0	1733	0	EPHA5	4	66286254	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	8379177	66286254	124868022	461	122468	632	2									
EPHA5	2044	broad.mit.edu	37	chr4	66286255	66286256	+	Frame_Shift_Ins	INS	-	-	T													tgttttttgcaattttccctINStttttcacattggtgactgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:66286254_66286255C>CT	uc003hcy.3	-	5	1624_1625	c.1431_1432G>AG	c.(1429-1434)aaagggfs	p.K477fs	EPHA5_uc003hcx.3_Frame_Shift_Ins_p.K408fs|EPHA5_uc003hcz.3_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cah.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cai.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc003hda.2_Frame_Shift_Ins_p.K477fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	477	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	p.K476N(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						GCAATTTTCCCTTTTTTCACAT	0.356										TSP Lung(17;0.13)			T	66286256	-	T	66286255	7	5	248	1	0	1	1	0	0	0	0	0	5170	1606	56	0	1734	0	EPHA5	4	66286255	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	66286255	124868021	462	122469	632	2									
EPHA5	2044	broad.mit.edu	37	chr4	66467465	66467465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattttgggaggttcatcGgtcacagaatggttgacaca	12	7	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:66467465G>A	uc003hcy.2	-	3	997	c.804C>T	c.(802-804)ACC>ACT	p.T268T	EPHA5_uc003hcx.2_Silent_p.T199T|EPHA5_uc003hcz.2_Silent_p.T268T|EPHA5_uc011cah.1_Silent_p.T268T|EPHA5_uc011cai.1_Silent_p.T268T|EPHA5_uc003hda.2_Silent_p.T268T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	268	Extracellular (Potential).|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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GAGGTTCATCGGTCACAGAAT	0.532										TSP Lung(17;0.13)			A	66467465	G	A	66467465	2	1	248	1	0	0	0	0	0	0	0	1	5170	1103	39	1		1	EPHA5	4	66467465	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	181210	66467465	124686811	463	122470											
ADAMTS3	9508	broad.mit.edu	37	chr4	73176817	73176817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctttgtaagaacagtgcGttccatcatgcaccagttgt	9	9	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:73176817G>A	uc003hgk.1	-	14	2040	c.2003C>T	c.(2002-2004)ACG>ATG	p.T668M	ADAMTS3_uc003hgl.2_Missense_Mutation_p.T9M	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	668	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			AGAACAGTGCGTTCCATCATG	0.428													A	73176817	G	A	73176817	3	1	248	1	0	0	0	0	1	0	0	0	267	1145	40	1	1650	1	ADAMTS3	4	73176817	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6709352	73176817	117977459	464	122471											
AFM	173	broad.mit.edu	37	chr4	74357673	74357673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaagaaaataccagagCgcggccagtgcataattaac	10	8	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:74357673C>T	uc003hhb.2	+	8	959	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	310	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	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)			AATACCAGAGCGCGGCCAGTG	0.358													T	74357673	C	T	74357673	3	4	248	1	0	0	0	0	1	0	0	0	361	768	27	1	958	1	AFM	4	74357673	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1180856	74357673	116796603	465	122472											
MTHFD2L	441024	broad.mit.edu	37	chr4	75040303	75040303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggtgtggaatcatgggTttcccttggaaacagaagac	14	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:75040303T>G	uc003hhn.1	+	5	568	c.50T>G	c.(49-51)GTT>GGT	p.V17G	MTHFD2L_uc011cbj.1_Missense_Mutation_p.V17G|MTHFD2L_uc011cbk.1_Missense_Mutation_p.V75G|MTHFD2L_uc003hho.2_RNA|MTHFD2L_uc003hhs.2_RNA	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	17					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			GAATCATGGGTTTCCCTTGGA	0.418													G	75040303	T	G	75040303	3	3	248	1	0	0	0	0	1	0	0	0	9930	1725	60	5	230	5	MTHFD2L	4	75040303	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	682630	75040303	116113973	466	122473											
CXCL9	4283	broad.mit.edu	37	chr4	76924826	76924826	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttgatgttttttcccAttcttttgctttttcttttg	4	6	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:76924826A>G	uc003hjh.1	-	4	342	c.303T>C	c.(301-303)AAT>AAC	p.N101N		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	101					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTTTTTTCCCATTCTTTTGCT	0.353													G	76924826	A	G	76924826	2	3	248	1	0	0	0	0	0	0	0	1	4089	214	8	3		3	CXCL9	4	76924826	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1884523	76924826	114229450	467	122474											
NAA11	84779	broad.mit.edu	37	chr4	80246788	80246788	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaggccgaggcgccGgtgtgaacgcttcacggcca	16	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:80246788G>T	uc003hlt.3	-	1	384	c.244C>A	c.(244-246)CGG>AGG	p.R82R		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	82	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						CCGAGGCGCCGGTGTGAACGC	0.562													T	80246788	G	T	80246788	2	4	248	1	0	0	0	0	0	0	0	1	10117	1115	39	5		5	NAA11	4	80246788	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3321962	80246788	110907488	468	122475											
GK2	2712	broad.mit.edu	37	chr4	80328865	80328865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaacagccttttggaCgtttctcacattgtcaagca	6	11	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:80328865C>T	uc003hlu.2	-	1	508	c.490G>A	c.(490-492)GTC>ATC	p.V164I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	164					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						GCCTTTTGGACGTTTCTCACA	0.438													T	80328865	C	T	80328865	3	4	248	1	0	0	0	0	1	0	0	0	6421	536	19	1	1175	1	GK2	4	80328865	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	82077	80328865	110825411	469	122476											
PRDM8	56978	broad.mit.edu	37	chr4	81121307	81121308	+	Frame_Shift_Ins	INS	-	-	T													ccaacaatgtctgacagataINStttttaccagcgtttacacc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:81121307_81121308insT	uc010ijo.2	+	6	912_913	c.73_74insT	c.(73-75)ATTfs	p.I25fs	PRDM8_uc003hmb.3_Frame_Shift_Ins_p.I25fs|PRDM8_uc003hmc.3_Frame_Shift_Ins_p.I25fs	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	25	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCTGACAGATATTTTTACCAGC	0.475													T	81121308	-	T	81121307	7	5	248	1	0	1	1	0	0	0	0	0	12462	449	16	0	75	0	PRDM8	4	81121307	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	792442	81121307	110032969	470	122477	633	2									
PRDM8	56978	broad.mit.edu	37	chr4	81121308	81121309	+	Frame_Shift_Ins	INS	-	-	T													caacaatgtctgacagatatINSttttaccagcgtttacacca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:81121307_81121308A>AT	uc010ijo.3	+	5	912_913	c.73_74A>AT	c.(73-75)attfs	p.I25fs	PRDM8_uc003hmb.4_Frame_Shift_Ins_p.I25fs|PRDM8_uc003hmc.4_Frame_Shift_Ins_p.I25fs	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	25	SET.				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						TCTGACAGATATTTTTACCAGC	0.475													T	81121309	-	T	81121308	7	5	248	1	0	1	1	0	0	0	0	0	12462	1493	52	0	76	0	PRDM8	4	81121308	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	81121308	110032968	471	122478	633	2									
SEC31A	22872	broad.mit.edu	37	chr4	83793118	83793118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatggttttccaggacaCgaagtggagaggaagcaaat	14	6	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:83793118C>T	uc003hnf.2	-	7	925	c.761G>A	c.(760-762)CGT>CAT	p.R254H	SEC31A_uc003hne.2_5'Flank|SEC31A_uc011ccl.1_Missense_Mutation_p.R254H|SEC31A_uc003hnl.2_Missense_Mutation_p.R254H|SEC31A_uc003hng.2_Missense_Mutation_p.R254H|SEC31A_uc003hnh.2_Missense_Mutation_p.R254H|SEC31A_uc003hni.2_Missense_Mutation_p.R254H|SEC31A_uc003hnj.2_Missense_Mutation_p.R254H|SEC31A_uc011ccm.1_Missense_Mutation_p.R249H|SEC31A_uc011ccn.1_Missense_Mutation_p.R254H|SEC31A_uc003hnk.2_Missense_Mutation_p.R254H|SEC31A_uc003hnm.2_Missense_Mutation_p.R254H|SEC31A_uc003hnn.1_Missense_Mutation_p.R254H|SEC31A_uc003hno.2_Missense_Mutation_p.R254H	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	254	WD 4.|Interaction with SEC13.				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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TTCCAGGACACGAAGTGGAGA	0.408													T	83793118	C	T	83793118	3	4	248	1	0	0	0	0	1	0	0	0	13998	536	19	1	2985	1	SEC31A	4	83793118	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2671810	83793118	107361158	472	122479											
HELQ	113510	broad.mit.edu	37	chr4	84374799	84374799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattttcaaagtatatagcCtgtgaggaaggtacatcata	8	5	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:84374799C>A	uc003hom.2	-	2	776	c.597G>T	c.(595-597)CAG>CAT	p.Q199H	HELQ_uc010ikb.2_Missense_Mutation_p.Q199H|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.Q93H|HELQ_uc003hoo.1_Missense_Mutation_p.Q162H|HELQ_uc003hop.1_Missense_Mutation_p.Q93H|HELQ_uc003hoq.1_Missense_Mutation_p.Q199H|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	199							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AGTATATAGCCTGTGAGGAAG	0.388								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	84374799	C	A	84374799	3	1	248	1	0	0	0	0	1	0	0	0	7047	680	24	5	2776	5	HELQ	4	84374799	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	581681	84374799	106779477	473	122480											
WDFY3	23001	broad.mit.edu	37	chr4	85762336	85762336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctaacaaattaattgTcgttagaagcatccagcctc	8	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:85762336T>C	uc003hpd.2	-	6	793	c.385A>G	c.(385-387)ACA>GCA	p.T129A	WDFY3_uc003hpf.2_Missense_Mutation_p.T129A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	129						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAATTAATTGTCGTTAGAAGC	0.383													C	85762336	T	C	85762336	3	2	248	1	0	0	0	0	1	0	0	0	17267	1667	58	3	10490	3	WDFY3	4	85762336	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1387537	85762336	105391940	474	122481											
SLC10A6	345274	broad.mit.edu	37	chr4	87769943	87769943	+	Frame_Shift_Del	DEL	C	C	-													tgaaaatgttagagatggtgCcccccgggcagcagcccatg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:87769942_87769942GC>G	uc003hqd.2	-	0	475	c.327_327GC>C	c.(325-327)ggcfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGC	0.507													-	87769943	C	-	87769943	7	5	248	1	0	1	0	1	0	0	0	0	14378	739	26	0	831	0	SLC10A6	4	87769943	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	2007607	87769943	103384333	475	122482											
AFF1	4299	broad.mit.edu	37	chr4	87967391	87967392	+	Frame_Shift_Del	DEL	AA	AA	-													accaggaagcccaccaagagAaagaggcatttcctgaaaag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:87967390_87967391GAA>G	uc011ccz.2	+	2	386_387	c.111_112GAA>G	c.(109-114)gagaaafs	p.E37fs	AFF1_uc011ccx.2_Intron|AFF1_uc003hqh.2_Frame_Shift_Del_p.E37fs|AFF1_uc011ccy.2_Frame_Shift_Del_p.E37fs|AFF1_uc003hqj.4_Frame_Shift_Del_p.E30fs|AFF1_uc003hqk.4_Frame_Shift_Del_p.E30fs|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	30						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)		CCCACCAAGAGAAAGAGGCATT	0.416													-	87967392	AA	-	87967391	7	5	248	1	0	1	0	1	0	0	0	0	356	247	9	0	139	0	AFF1	4	87967391	Frame_Shift_Del	DEL	AA	TCGA-FP-A4BE-01A-12D-A24D-08	197448	87967391	103186885	476	122483											
GPRIN3	285513	broad.mit.edu	37	chr4	90170221	90170221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaatgctcaggagcacgGctttccttcagaaatgcagt	9	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:90170221G>A	uc003hsm.1	-	2	1560	c.1041C>T	c.(1039-1041)AGC>AGT	p.S347S		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	347										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGAGCACGGCTTTCCTTCA	0.592													A	90170221	G	A	90170221	2	1	248	1	0	0	0	0	0	0	0	1	6731	1194	42	2		2	GPRIN3	4	90170221	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2202830	90170221	100984055	477	122484											
UNC5C	8633	broad.mit.edu	37	chr4	96222780	96222780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcgcacatacgccttcCggctctttgtggtacccgcg	10	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:96222780C>T	uc003htp.1	-	3	621	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	UNC5C_uc010ilc.1_Missense_Mutation_p.R156Q|UNC5C_uc003htq.2_Missense_Mutation_p.R156Q	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	156	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATACGCCTTCCGGCTCTTTGT	0.498													T	96222780	C	T	96222780	3	4	248	1	0	0	0	0	1	0	0	0	16990	652	23	1	2384	1	UNC5C	4	96222780	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6052559	96222780	94931496	478	122485											
ADH6	130	broad.mit.edu	37	chr4	100125396	100125396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaagtaacaggatacagcGgatactgaaaaaaagaagaa	9	4	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:100125396G>A	uc003huo.2	-	9	1202	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C	uc003hum.1_Intron|ADH6_uc011cef.1_Missense_Mutation_p.R161C	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 1	9					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AGGATACAGCGGATACTGAAA	0.323													A	100125396	G	A	100125396	3	1	248	1	0	0	0	0	1	0	0	0	312	1116	39	1	23	1	ADH6	4	100125396	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3902616	100125396	91028880	479	122486											
ADH1C	126	broad.mit.edu	37	chr4	100264115	100264115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgttgatgtccacaGcaatgattctggctgctcca	9	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:100264115G>T	uc003huu.2	-	8	750	c.665C>A	c.(664-666)GCT>GAT	p.A222D		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	222					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GATGTCCACAGCAATGATTCT	0.502									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	100264115	G	T	100264115	3	4	248	1	0	0	0	0	1	0	0	0	309	971	34	5	478	5	ADH1C	4	100264115	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	138719	100264115	90890161	480	122487											
MTTP	4547	broad.mit.edu	37	chr4	100522853	100522853	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaagttgtgtcagaaTgaaggctgcaaactcaaagt	11	6	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:100522853T>C	uc003hvc.3	+	11	1582	c.1326T>C	c.(1324-1326)AAT>AAC	p.N442N	MTTP_uc011cej.1_Silent_p.N469N	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	442	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGTGTCAGAATGAAGGCTGCA	0.383													C	100522853	T	C	100522853	2	2	248	1	0	0	0	0	0	0	0	1	9964	1461	51	3		3	MTTP	4	100522853	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	258738	100522853	90631423	481	122488											
ANK2	287	broad.mit.edu	37	chr4	114274458	114274458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaagaggacttagagaaaGtgaatgaaatcctgagaagt	11	3	0	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:114274458G>T	uc003ibe.3	+	38	4784	c.4684G>T	c.(4684-4686)GTG>TTG	p.V1562L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.V1577L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1529					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTAGAGAAAGTGAATGAAAT	0.453													T	114274458	G	T	114274458	3	4	248	1	0	0	0	0	1	0	0	0	621	1029	36	5	4899	5	ANK2	4	114274458	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	13751605	114274458	76879818	482	122489											
CAMK2D	817	broad.mit.edu	37	chr4	114436244	114436244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagatccatgggtgcttcAgtgcctctgaggctgtgatg	13	10	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:114436244A>G	uc003ibi.2	-	10	1659	c.800T>C	c.(799-801)CTG>CCG	p.L267P	CAMK2D_uc003ibj.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibk.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibo.3_Missense_Mutation_p.L267P|CAMK2D_uc003ibm.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibn.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibl.2_Missense_Mutation_p.L267P	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	267	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			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGGGTGCTTCAGTGCCTCTGA	0.393													G	114436244	A	G	114436244	3	3	248	1	0	0	0	0	1	0	0	0	2601	188	7	3	830	3	CAMK2D	4	114436244	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	161786	114436244	76718032	483	122490											
SEC24D	9871	broad.mit.edu	37	chr4	119662116	119662116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctggtacgaaccctcAtaatagcatcaaagcctatt	7	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:119662116A>G	uc003ici.3	-	16	2344	c.2072T>C	c.(2071-2073)ATG>ACG	p.M691T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.M692T|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	691					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				0						ACGAACCCTCATAATAGCATC	0.308													G	119662116	A	G	119662116	3	3	248	1	0	0	0	0	1	0	0	0	13997	217	8	3	1058	3	SEC24D	4	119662116	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	5225872	119662116	71492160	484	122491											
ANXA5	308	broad.mit.edu	37	chr4	122599047	122599047	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatatcctggtgtcactcAcctgagcatcttgttcaact	6	12	5	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:122599047A>G	uc003idu.3	-	7	601	c.531_splice	c.e7+1	p.Q177_splice	ANXA5_uc003idv.3_Splice_Site_p.Q177_splice|ANXA5_uc003idw.3_Splice_Site|ANXA5_uc010inm.2_Splice_Site_p.Q177_splice|ANXA5_uc010inn.2_Splice_Site_p.Q117_splice|ANXA5_uc010ino.2_Splice_Site_p.Q77_splice	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5						anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						GGTGTCACTCACCTGAGCATC	0.358													G	122599047	A	G	122599047	5	3	248	1	0	0	0	0	0	0	1	0	721	173	6	3	453	3	ANXA5	4	122599047	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2936931	122599047	68555229	485	122492											
SPATA5	166378	broad.mit.edu	37	chr4	123855262	123855262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctagatggcaagatTgttttaccaggcaactttct	8	7	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:123855262T>C	uc003iez.3	+	5	589	c.516T>C	c.(514-516)ATT>ATC	p.I172I	SPATA5_uc003iey.2_Silent_p.I171I	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	172					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						ATGGCAAGATTGTTTTACCAG	0.343													C	123855262	T	C	123855262	2	2	248	1	0	0	0	0	0	0	0	1	15010	1800	63	3		3	SPATA5	4	123855262	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1256215	123855262	67299014	486	122493											
FAT4	79633	broad.mit.edu	37	chr4	126372220	126372220	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggtttccagatcaataAgaagactggacagatttatg	11	5	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:126372220A>C	uc003ifj.3	+	9	10049	c.10049A>C	c.(10048-10050)AAG>ACG	p.K3350T	FAT4_uc011cgp.1_Missense_Mutation_p.K1648T|FAT4_uc003ifi.1_Missense_Mutation_p.K828T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3350	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGATCAATAAGAAGACTGGA	0.413													C	126372220	A	C	126372220	3	2	248	1	0	0	0	0	1	0	0	0	5692	72	3	5	10083	5	FAT4	4	126372220	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2516958	126372220	64782056	487	122494											
FAT4	79633	broad.mit.edu	37	chr4	126408578	126408578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatattcctgaagtatatGttgcagacggccactggcac	10	9	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:126408578G>A	uc003ifj.3	+	16	12895	c.12895G>A	c.(12895-12897)GTT>ATT	p.V4299I	FAT4_uc011cgp.1_Missense_Mutation_p.V2540I|FAT4_uc003ifi.1_Missense_Mutation_p.V1777I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4299	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAAGTATATGTTGCAGACGG	0.358													A	126408578	G	A	126408578	3	1	248	1	0	0	0	0	1	0	0	0	5692	1377	48	4	12957	4	FAT4	4	126408578	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	36358	126408578	64745698	488	122495											
PLK4	10733	broad.mit.edu	37	chr4	128816110	128816110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttattctttgtagatGgttacaaatgaaggacttgg	10	5	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:128816110G>T	uc003ifo.2	+	14	2810	c.2565G>T	c.(2563-2565)ATG>ATT	p.M855I	PLK4_uc011cgs.1_Missense_Mutation_p.M823I|PLK4_uc011cgt.1_Missense_Mutation_p.M814I	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	855					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				0						CTTTGTAGATGGTTACAAATG	0.333													T	128816110	G	T	128816110	3	4	248	1	0	0	0	0	1	0	0	0	12098	1348	47	5	2619	5	PLK4	4	128816110	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2407532	128816110	62338166	489	122496											
PCDH10	57575	broad.mit.edu	37	chr4	134072289	134072289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtgtacgtgcaagccaagGacctgggccccaacgccgtg	13	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:134072289G>T	uc003iha.2	+	1	1820	c.994G>T	c.(994-996)GAC>TAC	p.D332Y	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D332Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	332	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAAGCCAAGGACCTGGGCCC	0.592													T	134072289	G	T	134072289	3	4	248	1	0	0	0	0	1	0	0	0	11507	1174	41	5	996	5	PCDH10	4	134072289	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5256179	134072289	57081987	490	122497											
SETD7	80854	broad.mit.edu	37	chr4	140432892	140432892	+	Frame_Shift_Del	DEL	G	G	-													gcttcaggcccactcttcccGggggggctgtggtcatagcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:140432891_140432891CG>C	uc003ihw.3	-	7	1313	c.1027_1027CG>G	c.(1027-1029)gggfs	p.G343fs		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	343					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	p.G343V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTG	0.612													-	140432892	G	-	140432892	7	5	248	1	0	1	0	1	0	0	0	0	14136	1103	39	0	78	0	SETD7	4	140432892	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	6360603	140432892	50721384	491	122498											
KIAA0922	23240	broad.mit.edu	37	chr4	154544213	154544213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagaagcccatggtggaCgcccagcacttcctgccggc	12	14	0	1	rs140734056	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:154544213C>T	uc003inm.3	+	29	4072	c.4020C>T	c.(4018-4020)GAC>GAT	p.D1340D	KIAA0922_uc010ipp.2_Silent_p.D1341D|KIAA0922_uc010ipq.2_Silent_p.D1109D	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1340	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CCATGGTGGACGCCCAGCACT	0.682													T	154544213	C	T	154544213	2	4	248	1	0	0	0	0	0	0	0	1	8201	535	19	1		1	KIAA0922	4	154544213	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	14111321	154544213	36610063	492	122499											
RBM46	166863	broad.mit.edu	37	chr4	155749137	155749137	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttattcttatccaggctatcCtttgtcaccaacaatatcac	3	12	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:155749137C>A	uc003ioo.2	+	5	1693	c.1520C>A	c.(1519-1521)CCT>CAT	p.P507H	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	507							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGGCTATCCTTTGTCACCA	0.443													A	155749137	C	A	155749137	3	1	248	1	0	0	0	0	1	0	0	0	13140	681	24	5	1534	5	RBM46	4	155749137	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1204924	155749137	35405139	493	122500											
MAP9	79884	broad.mit.edu	37	chr4	156274383	156274384	+	Frame_Shift_Ins	INS	-	-	T													ttcttcagttttcttcttgtINSttttttcttcaagcctcttt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:156274382_156274383G>GT	uc003ios.3	-	10	1754_1755	c.1490_1491C>AC	c.(1489-1491)aacfs	p.N497fs	MAP9_uc011cin.2_Frame_Shift_Ins_p.N472fs|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Frame_Shift_Ins_p.N496fs	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	497					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)		TTTTCTTCTTGTTTTTTTCTTC	0.342													T	156274384	-	T	156274383	7	5	248	1	0	1	1	0	0	0	0	0	9270	1725	60	0	469	0	MAP9	4	156274383	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	525246	156274383	34879893	494	122501											
GRIA2	2891	broad.mit.edu	37	chr4	158254507	158254507	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactaatgggccccggaaggTaaatccttagtgatttaaag	10	7	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:158254507T>C	uc003ipm.3	+	8	1614	c.1155_splice	c.e8+2	p.K385_splice	GRIA2_uc011cit.1_Splice_Site_p.K338_splice|GRIA2_uc003ipl.3_Splice_Site_p.K385_splice|GRIA2_uc003ipk.3_Splice_Site_p.K338_splice|GRIA2_uc010iqh.1_Splice_Site	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2						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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCCCGGAAGGTAAATCCTTAG	0.393													C	158254507	T	C	158254507	5	2	248	1	0	0	0	0	0	0	1	0	6768	1652	57	3	1187	3	GRIA2	4	158254507	Splice_Site	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1980124	158254507	32899769	495	122502											
ETFDH	2110	broad.mit.edu	37	chr4	159601673	159601673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattatctacctctatgtgCtacaagatggtcttcaactt	5	9	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:159601673C>T	uc003iqb.2	+	2	421	c.89C>T	c.(88-90)GCT>GTT	p.A30V	ETFDH_uc011cjg.1_Intron|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_5'Flank|ETFDH_uc010iqs.2_5'Flank	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	30					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CCTCTATGTGCTACAAGATGG	0.323													T	159601673	C	T	159601673	3	4	248	1	0	0	0	0	1	0	0	0	5271	797	28	2	95	2	ETFDH	4	159601673	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1347166	159601673	31552603	496	122503											
TLL1	7092	broad.mit.edu	37	chr4	166964429	166964429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttggctttcttcagcgaTctgtggaggtgagatacgta	12	6	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:166964429T>C	uc003irh.1	+	12	2029	c.1382T>C	c.(1381-1383)ATC>ACC	p.I461T	TLL1_uc011cjn.1_Missense_Mutation_p.I461T|TLL1_uc011cjo.1_Missense_Mutation_p.I285T	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	461	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTTCAGCGATCTGTGGAGGT	0.388													C	166964429	T	C	166964429	3	2	248	1	0	0	0	0	1	0	0	0	15942	1435	50	3	1428	3	TLL1	4	166964429	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	7362756	166964429	24189847	497	122504											
GPM6A	2823	broad.mit.edu	37	chr4	176573102	176573102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagccgtgactcccaGccaggccaacatgaaaagat	11	11	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:176573102G>A	uc003iuf.2	-	4	1228	c.424C>T	c.(424-426)CTG>TTG	p.L142L	GPM6A_uc011ckj.1_Silent_p.L135L|GPM6A_uc003iug.2_Silent_p.L142L|GPM6A_uc003iuh.2_Silent_p.L131L	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	142	Helical; (Potential).					cell surface|integral to membrane					0		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)		GTGACTCCCAGCCAGGCCAAC	0.418													A	176573102	G	A	176573102	2	1	248	1	0	0	0	0	0	0	0	1	6615	962	34	2		2	GPM6A	4	176573102	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9608673	176573102	14581174	498	122505											
ODZ3	55714	broad.mit.edu	37	chr4	183721333	183721333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcgcgtgcgcgacggCgaggagggcgcgcgcctctg	19	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:183721333C>T	uc003ivd.1	+	27	7966	c.7929C>T	c.(7927-7929)GGC>GGT	p.G2643G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2643	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGCGCGACGGCGAGGAGGGCG	0.741													T	183721333	C	T	183721333	2	4	248	1	0	0	0	0	0	0	0	1	10836	755	27	1		1	ODZ3	4	183721333	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7148231	183721333	7432943	499	122506											
RWDD4A	201965	broad.mit.edu	37	chr4	184570625	184570625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttgtctgccagcttacGcttctgggcttttgaaagtt	10	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:184570625G>A	uc003ivt.1	-	5	686	c.460C>T	c.(460-462)CGT>TGT	p.R154C	RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Missense_Mutation_p.R91C|RWDD4A_uc011ckl.1_RNA	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	RWD domain containing 4A	154											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166)		GCCAGCTTACGCTTCTGGGCT	0.249													A	184570625	G	A	184570625	3	1	248	1	0	0	0	0	1	0	0	0	13758	1087	38	1	118	1	RWDD4A	4	184570625	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	849292	184570625	6583651	500	122507											
CCDC111	201973	broad.mit.edu	37	chr4	185606594	185606594	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaggttttcagtgttctccCtatcctgaagttgatcattt	8	8	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:185606594C>A	uc003iwk.2	+	10	1561	c.1128C>A	c.(1126-1128)CCC>CCA	p.P376P	CCDC111_uc003iwj.2_Silent_p.P375P|CCDC111_uc003iwl.2_Silent_p.P376P|CCDC111_uc003iwm.2_Silent_p.P247P|CCDC111_uc003iwn.2_Silent_p.P116P	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	376					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		AGTGTTCTCCCTATCCTGAAG	0.313													A	185606594	C	A	185606594	2	1	248	1	0	0	0	0	0	0	0	1	2748	668	24	5		5	CCDC111	4	185606594	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1035969	185606594	5547682	501	122508											
UFSP2	55325	broad.mit.edu	37	chr4	186336496	186336496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatcaaccaggagtttaCgaactctgtggggggaaata	12	7	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:186336496C>T	uc003ixo.2	-	6	614	c.497G>A	c.(496-498)CGT>CAT	p.R166H	UFSP2_uc003ixn.2_Missense_Mutation_p.R56H|UFSP2_uc003ixq.2_Missense_Mutation_p.R56H|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	166						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		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)		CAGGAGTTTACGAACTCTGTG	0.318													T	186336496	C	T	186336496	3	4	248	1	0	0	0	0	1	0	0	0	16935	536	19	1	940	1	UFSP2	4	186336496	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	729902	186336496	4817780	502	122509											
FAM149A	25854	broad.mit.edu	37	chr4	187086561	187086561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggagcaggttccccccGctagtcacggagaccagggg	14	14	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:187086561G>A	uc003iyt.3	+	11	1686	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	FAM149A_uc011cla.1_Silent_p.P369P|FAM149A_uc003iyu.3_Silent_p.P369P|FAM149A_uc010isl.2_Silent_p.P369P|FAM149A_uc011clb.1_Silent_p.P369P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	660										breast(1)	1		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)		GGTTCCCCCCGCTAGTCACGG	0.537													A	187086561	G	A	187086561	2	1	248	1	0	0	0	0	0	0	0	1	5455	1074	38	1		1	FAM149A	4	187086561	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	750065	187086561	4067715	503	122510											
TUBB4Q	56604	broad.mit.edu	37	chr4	190903937	190903937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacagacggctgtttttAcgttgttggggaaccagtca	12	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:190903937A>G	uc011clg.1	-	4	1046	c.1043T>C	c.(1042-1044)GTA>GCA	p.V348A		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		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;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		GGCTGTTTTTACGTTGTTGGG	0.507													G	190903937	A	G	190903937	3	3	248	1	0	0	0	0	1	0	0	0	16756	391	14	3	261	3	TUBB4Q	4	190903937	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3817376	190903937	250339	504	122511											
EXOC3	11336	broad.mit.edu	37	chr5	453621	453621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatggacagtgggaacacGcgtgacatgaccctcatcca	11	13	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:453621G>A	uc003jba.2	+	4	629	c.501G>A	c.(499-501)ACG>ACA	p.T167T		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	178					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGGAACACGCGTGACATGA	0.602													A	453621	G	A	453621	2	1	248	1	0	0	0	0	0	0	0	1	5303	1074	38	1		1	EXOC3	5	453621	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		453621	180461639	505	122512											
SLC12A7	10723	broad.mit.edu	37	chr5	1065523	1065523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgggacatgccatccCgcaggctggacgagaccacc	13	14	1	1	rs139369204		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1065523C>T	uc003jbu.2	-	18	2378	c.2312G>A	c.(2311-2313)CGG>CAG	p.R771Q		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	771					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	CATGCCATCCCGCAGGCTGGA	0.622													T	1065523	C	T	1065523	3	4	248	1	0	0	0	0	1	0	0	0	14388	652	23	1	967	1	SLC12A7	5	1065523	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	611902	1065523	179849737	506	122513											
SLC12A7	10723	broad.mit.edu	37	chr5	1074698	1074699	+	Frame_Shift_Ins	INS	-	-	G													cacctccagttcttggtgtgINSggggggaccgtgctccacgc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1074697_1074698T>TG	uc003jbu.3	-	15	2122_2123	c.2056_2057A>CA	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					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)	GTTCTTGGTGTGGGGGGGACCG	0.649													G	1074699	-	G	1074698	7	5	248	1	0	1	1	0	0	0	0	0	14388	1348	47	0	1231	0	SLC12A7	5	1074698	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	9175	1074698	179840562	507	122514											
TERT	7015	broad.mit.edu	37	chr5	1253879	1253879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtctgagggcagtgcCgggttggctgcggcctccag	17	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1253879C>T	uc003jcb.1	-	16	3421	c.3363G>A	c.(3361-3363)CCG>CCA	p.P1121P	TERT_uc003jbz.1_Silent_p.P317P|TERT_uc003jca.1_Silent_p.P1109P|TERT_uc003jcc.1_Silent_p.P1058P|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	1121	CTE.				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			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	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)			AGGGCAGTGCCGGGTTGGCTG	0.667									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				T	1253879	C	T	1253879	2	4	248	1	0	0	0	0	0	0	0	1	15761	639	23	1		1	TERT	5	1253879	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	179181	1253879	179661381	508	122515											
LPCAT1	79888	broad.mit.edu	37	chr5	1467000	1467000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtcctcttgcgctccGtacatctgcaaggcaaactg	9	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1467000G>A	uc003jcm.2	-	13	1401	c.1284C>T	c.(1282-1284)TAC>TAT	p.Y428Y	LPCAT1_uc003jcl.2_Silent_p.Y2Y	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	428	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTTGCGCTCCGTACATCTGCA	0.667													A	1467000	G	A	1467000	2	1	248	1	0	0	0	0	0	0	0	1	8910	1140	40	1		1	LPCAT1	5	1467000	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	213121	1467000	179448260	509	122516											
ADAMTS16	170690	broad.mit.edu	37	chr5	5186298	5186298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccttggtggtggtcgaCaaaaagatgatgcaaaacca	12	7	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:5186298C>T	uc003jdl.2	+	5	1035	c.897C>T	c.(895-897)GAC>GAT	p.D299D	ADAMTS16_uc003jdk.1_Silent_p.D299D|ADAMTS16_uc003jdj.1_Silent_p.D299D	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	299	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGGTGGTCGACAAAAAGATGA	0.468													T	5186298	C	T	5186298	2	4	248	1	0	0	0	0	0	0	0	1	261	477	17	4		4	ADAMTS16	5	5186298	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3719298	5186298	175728962	510	122517											
PAPD7	11044	broad.mit.edu	37	chr5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggaggaggaaaaaaCacacacacacacgggacagt	12	11	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:6755014C>A	uc003jdx.1	+	13	1714	c.1585C>A	c.(1585-1587)CAC>AAC	p.H529N	PAPD7_uc011cmn.1_Missense_Mutation_p.H519N|PAPD7_uc010itl.1_Missense_Mutation_p.H349N	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	529					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			ovary(1)	1						GAGGAAAAAACACACACACAC	0.657													A	6755014	C	A	6755014	3	1	248	1	0	0	0	0	1	0	0	0	11426	478	17	5	1631	5	PAPD7	5	6755014	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1568716	6755014	174160246	511	122518											
DAP	1611	broad.mit.edu	37	chr5	10748323	10748325	+	In_Frame_Del	DEL	TCT	TCT	-													cctggtcatccttgtctttcTcttctttggtgtctcctgta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:10748323_10748325delTCT	uc003jez.3	-	2	321_323	c.114_116delAGA	c.(112-117)GAAGAG>GAG	p.38_39EE>E	DAP_uc011cmw.1_In_Frame_Del_p.38_39EE>E	NM_004394	NP_004385	P51397	DAP1_HUMAN	death-associated protein	38_39					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding				0		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTTGTCTTTCTCTTCTTTGGTGT	0.448													-	10748325	TCT	-	10748323	7	5	248	1	0	1	0	1	0	0	0	0	4233	1551	54	0	204	0	DAP	5	10748323	In_Frame_Del	DEL	TCT	TCGA-FP-A4BE-01A-12D-A24D-08	3993309	10748323	170166937	512	122519											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-													gtagttaaacttggagagtcTttttttccagtgctccagct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:13919382_13919382CT>C	uc003jfd.2	-	6	920	c.878_878AG>G	c.(877-879)agafs	p.R293fs	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	293	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)					CTTGGAGAGTCTTTTTTTCCA	0.517									Kartagener syndrome				-	13919383	T	-	13919383	7	5	248	1	0	1	0	1	0	0	0	0	4604	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	3171060	13919383	166995877	513	122520											
TRIO	7204	broad.mit.edu	37	chr5	14387858	14387858	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagagtaaaagtctccagctAgatatcattccagccagtat	7	10	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:14387858A>T	uc003jff.2	+	23	3789	c.3783A>T	c.(3781-3783)CTA>CTT	p.L1261L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L1212L|TRIO_uc003jfh.1_Silent_p.L910L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1261					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GTCTCCAGCTAGATATCATTC	0.428													T	14387858	A	T	14387858	2	4	248	1	0	0	0	0	0	0	0	1	16549	407	15	5		5	TRIO	5	14387858	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	468475	14387858	166527402	514	122521											
TRIO	7204	broad.mit.edu	37	chr5	14485245	14485245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgctctgacatcgaggaCgggtgacgtggtagagacct	14	8	1	3	rs55916212		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:14485245C>T	uc003jff.2	+	47	6731	c.6725C>T	c.(6724-6726)ACG>ATG	p.T2242M	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.T1891M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2242	PH 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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACATCGAGGACGGGTGACGTG	0.373													T	14485245	C	T	14485245	3	4	248	1	0	0	0	0	1	0	0	0	16549	536	19	1	6911	1	TRIO	5	14485245	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	97387	14485245	166430015	515	122522											
CDH12	1010	broad.mit.edu	37	chr5	21752216	21752216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagccccgatgtcgaaaGcctgggtatcttcctcccca	9	15	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:21752216G>A	uc010iuc.2	-	12	2473	c.2015C>T	c.(2014-2016)GCT>GTT	p.A672V	CDH12_uc011cno.1_Missense_Mutation_p.A632V|CDH12_uc003jgk.2_Missense_Mutation_p.A672V|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	672	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GATGTCGAAAGCCTGGGTATC	0.463										HNSCC(59;0.17)			A	21752216	G	A	21752216	3	1	248	1	0	0	0	0	1	0	0	0	3098	971	34	2	373	2	CDH12	5	21752216	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7266971	21752216	159163044	516	122523											
CDH10	1008	broad.mit.edu	37	chr5	24505263	24505263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagattatgccactgagataGttcacggtcaagaggttttg	11	6	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:24505263G>A	uc003jgr.1	-	8	1683	c.1351C>T	c.(1351-1353)CTA>TTA	p.L451L	CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	451	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CACTGAGATAGTTCACGGTCA	0.318										HNSCC(23;0.051)			A	24505263	G	A	24505263	2	1	248	1	0	0	0	0	0	0	0	1	3096	1020	36	4		4	CDH10	5	24505263	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2753047	24505263	156409997	517	122524											
CAPSL	133690	broad.mit.edu	37	chr5	35910535	35910535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatcaaacctccggaaaAgttcttccacctcttctttt	3	13	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:35910535A>C	uc003jjt.1	-	3	343	c.248T>G	c.(247-249)CTT>CGT	p.L83R	CAPSL_uc003jju.1_Missense_Mutation_p.L83R	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	83	EF-hand 2.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCTCCGGAAAAGTTCTTCCAC	0.348													C	35910535	A	C	35910535	3	2	248	1	0	0	0	0	1	0	0	0	2639	72	3	5	390	5	CAPSL	5	35910535	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	11405272	35910535	145004725	518	122525											
UGT3A1	133688	broad.mit.edu	37	chr5	35954404	35954404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtgagccccagcagaAacacaaagacatcaatgagg	10	11	1	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:35954404A>G	uc003jjv.1	-	7	1629	c.1472T>C	c.(1471-1473)TTT>TCT	p.F491S	UGT3A1_uc003jjw.1_RNA	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	491	Helical; (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCCAGCAGAAACACAAAGAC	0.582													G	35954404	A	G	35954404	3	3	248	1	0	0	0	0	1	0	0	0	16960	14	1	3	103	3	UGT3A1	5	35954404	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	43869	35954404	144960856	519	122526											
NIPBL	25836	broad.mit.edu	37	chr5	37020714	37020714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattatgcatcgagctgaaAaccgaaaaaagtttcttaga	7	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:37020714A>G	uc003jkl.3	+	26	5663	c.5164A>G	c.(5164-5166)AAC>GAC	p.N1722D	NIPBL_uc003jkk.3_Missense_Mutation_p.N1722D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1722					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			TCGAGCTGAAAACCGAAAAAA	0.343													G	37020714	A	G	37020714	3	3	248	1	0	0	0	0	1	0	0	0	10428	14	1	3	5262	3	NIPBL	5	37020714	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1066310	37020714	143894546	520	122527											
C5orf42	65250	broad.mit.edu	37	chr5	37183479	37183479	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagttttgctctgatgtcGttttaatgttgtatgtacat	8	4	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:37183479G>A	uc011cpa.1	-	26	5035	c.4804C>T	c.(4804-4806)CGA>TGA	p.R1602*	C5orf42_uc011coy.1_Nonsense_Mutation_p.R103*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.R677*|C5orf42_uc011cpb.1_Nonsense_Mutation_p.R483*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1602										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCTGATGTCGTTTTAATGTT	0.348													A	37183479	G	A	37183479	4	1	248	1	0	0	0	0	0	1	0	0	2301	1153	40	1	4897	1	C5orf42	5	37183479	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	162765	37183479	143731781	521	122528											
C5orf42	65250	broad.mit.edu	37	chr5	37196015	37196015	+	Frame_Shift_Del	DEL	A	A	-													tctccagctgctccaggtctAaaaaatgcgatacctccttt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:37196014_37196014TA>T	uc011cpa.1	-	20	3988	c.3757_3757TA>A	c.(3757-3759)agafs	p.R1253fs	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.R328fs|C5orf42_uc011cpb.1_Frame_Shift_Del_p.R134fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1253								p.P1253S(1)		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)			GCTCCAGGTCTAAAAAATGCG	0.378													-	37196015	A	-	37196015	7	5	248	1	0	1	0	1	0	0	0	0	2301	359	13	0	5965	0	C5orf42	5	37196015	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	12536	37196015	143719245	522	122529											
PTGER4	5734	broad.mit.edu	37	chr5	40681634	40681634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccaccaacgtgacggCgcacgccgcctactcctaca	9	18	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:40681634C>T	uc003jlz.2	+	2	1131	c.539C>T	c.(538-540)GCG>GTG	p.A180V		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	180	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						AACGTGACGGCGCACGCCGCC	0.627													T	40681634	C	T	40681634	3	4	248	1	0	0	0	0	1	0	0	0	12745	768	27	1	541	1	PTGER4	5	40681634	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3485619	40681634	140233626	523	122530											
PELO	53918	broad.mit.edu	37	chr5	52096478	52096478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgccagctgcgggttAaggggaccaacatccaagag	13	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:52096478A>G	uc003jos.2	+	2	1235	c.250A>G	c.(250-252)AAG>GAG	p.K84E	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	84					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GCTGCGGGTTAAGGGGACCAA	0.607													G	52096478	A	G	52096478	3	3	248	1	0	0	0	0	1	0	0	0	11724	363	13	3	252	3	PELO	5	52096478	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	11414844	52096478	128818782	524	122531											
SNX18	112574	broad.mit.edu	37	chr5	53814488	53814488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcgcttctccaccttcGtcaagtccggcggggaggcc	11	15	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:53814488G>A	uc003jpj.3	+	1	896	c.706G>A	c.(706-708)GTC>ATC	p.V236I	SNX18_uc011cqg.1_Missense_Mutation_p.V236I|SNX18_uc003jpi.3_Missense_Mutation_p.V236I	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	236					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				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTCCACCTTCGTCAAGTCCGG	0.706													A	53814488	G	A	53814488	3	1	248	1	0	0	0	0	1	0	0	0	14889	1145	40	1	708	1	SNX18	5	53814488	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1718010	53814488	127100772	525	122532											
ESM1	11082	broad.mit.edu	37	chr5	54281199	54281199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggcagcagccacagtcGtcgagcactgtcctcttgca	10	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:54281199G>A	uc003jpk.2	-	1	216	c.147C>T	c.(145-147)GAC>GAT	p.D49D	ESM1_uc010ivt.2_Silent_p.D49D	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1 isoform a	49	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGCCACAGTCGTCGAGCACTG	0.612													A	54281199	G	A	54281199	2	1	248	1	0	0	0	0	0	0	0	1	5252	1136	40	1		1	ESM1	5	54281199	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	466711	54281199	126634061	526	122533											
SLC38A9	153129	broad.mit.edu	37	chr5	54945092	54945092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccaaatgaaatcccaagcGaacagccttaaaggtgacaa	7	10	0	2	rs145728023		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:54945092G>A	uc003jqf.2	-	11	1204	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C	SLC38A9_uc003jqd.2_Missense_Mutation_p.R272C|SLC38A9_uc010ivx.2_Intron|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Missense_Mutation_p.R206C	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	335					amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AATCCCAAGCGAACAGCCTTA	0.323													A	54945092	G	A	54945092	3	1	248	1	0	0	0	0	1	0	0	0	14611	1058	37	1	706	1	SLC38A9	5	54945092	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	663893	54945092	125970168	527	122534											
RAB3C	115827	broad.mit.edu	37	chr5	58120944	58120944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgacatggaagacgagCgggtcatctcaactgagcga	14	8	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:58120944C>T	uc003jrp.2	+	4	548	c.451C>T	c.(451-453)CGG>TGG	p.R151W		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	151					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GGAAGACGAGCGGGTCATCTC	0.363													T	58120944	C	T	58120944	3	4	248	1	0	0	0	0	1	0	0	0	12933	759	27	1	465	1	RAB3C	5	58120944	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3175852	58120944	122794316	528	122535											
DEPDC1B	55789	broad.mit.edu	37	chr5	59983002	59983002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagctcttgaaacgacagCgatgtttccgtaacggcatc	9	11	1	1	rs143548430		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:59983002C>T	uc003jsh.2	-	2	174	c.101G>A	c.(100-102)CGC>CAC	p.R34H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R34H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R7H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	34	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GAAACGACAGCGATGTTTCCG	0.468													T	59983002	C	T	59983002	3	4	248	1	0	0	0	0	1	0	0	0	4440	768	27	1	1528	1	DEPDC1B	5	59983002	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1862058	59983002	120932258	529	122536											
ELOVL7	79993	broad.mit.edu	37	chr5	60063707	60063707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatcgaaatgaataaccTataccccagccagacatcac	4	14	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:60063707T>C	uc003jsi.3	-	5	479	c.279A>G	c.(277-279)ATA>ATG	p.I93M	ELOVL7_uc011cqo.1_Missense_Mutation_p.I6M|ELOVL7_uc010iwk.2_Missense_Mutation_p.I93M|ELOVL7_uc003jsj.3_Missense_Mutation_p.I80M	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	93	Helical; (Potential).				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				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATGAATAACCTATACCCCAGC	0.388													C	60063707	T	C	60063707	3	2	248	1	0	0	0	0	1	0	0	0	5079	1512	53	3	586	3	ELOVL7	5	60063707	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	80705	60063707	120851553	530	122537											
IPO11	51194	broad.mit.edu	37	chr5	61847115	61847115	+	Frame_Shift_Del	DEL	T	T	-													gttctactacaaaacactagTtttttttcttcactacttaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:61847114_61847114GT>G	uc011cqr.2	+	25	2661	c.2531_2531GT>G	c.(2530-2532)agtfs	p.S844fs	IPO11_uc003jtc.3_Frame_Shift_Del_p.S804fs|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	804						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)		CAAAACACTAGTTTTTTTTCT	0.303													-	61847115	T	-	61847115	7	5	248	1	0	1	0	1	0	0	0	0	7793	1722	60	0	2634	0	IPO11	5	61847115	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1783408	61847115	119068145	531	122538											
SFRS12IP1	285672	broad.mit.edu	37	chr5	64036933	64036933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcttcattctcttcatcGctatcttcactacttgtact	3	12	6	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:64036933G>A	uc003jtk.2	-	3	308	c.156C>T	c.(154-156)AGC>AGT	p.S52S		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	P18SRP protein	52					mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding				0		Lung NSC(167;1.66e-05)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.119)		TCTCTTCATCGCTATCTTCAC	0.363													A	64036933	G	A	64036933	2	1	248	1	0	0	0	0	0	0	0	1	14168	1078	38	1		1	SFRS12IP1	5	64036933	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2189818	64036933	116878327	532	122539											
RAD17	5884	broad.mit.edu	37	chr5	68689214	68689218	+	Frame_Shift_Del	DEL	TTATT	TTATT	-													tgtcacacatgcctggagacTtatttaatttatatcttcac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:68689214_68689218delTTATT	uc003jwo.2	+	12	1404_1408	c.1342_1346delTTATT	c.(1342-1347)TTATTTfs	p.L448fs	RAD17_uc003jwg.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwh.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwi.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwj.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwk.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwl.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwm.2_Frame_Shift_Del_p.L272fs|RAD17_uc003jwn.2_Frame_Shift_Del_p.L351fs|RAD17_uc003jwp.2_Frame_Shift_Del_p.L8fs	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	448_449	Interaction with MCM7.				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				0		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)		GCCTGGAGACTTATTTAATTTATAT	0.322								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					-	68689218	TTATT	-	68689214	7	5	248	1	0	1	0	1	0	0	0	0	12979	1606	56	0	1401	0	RAD17	5	68689214	Frame_Shift_Del	DEL	TTATT	TCGA-FP-A4BE-01A-12D-A24D-08	4652281	68689214	112226046	533	122540											
MAP1B	4131	broad.mit.edu	37	chr5	71499573	71499573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgaggagcccagccGggctgtcctggacgctttgt	15	12	0	1	rs144647263		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:71499573G>A	uc003kbw.3	+	6	7437	c.7196G>A	c.(7195-7197)CGG>CAG	p.R2399Q		NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2399						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		GAGCCCAGCCGGGCTGTCCTG	0.537													A	71499573	G	A	71499573	3	1	248	1	0	0	0	0	1	0	0	0	9228	1116	39	1	7218	1	MAP1B	5	71499573	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2810359	71499573	109415687	534	122541											
ENC1	8507	broad.mit.edu	37	chr5	73932117	73932117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtagcgactgcatgcaGccagcactgcccggtggcaa	12	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:73932117G>A	uc003kdc.3	-	2	1325	c.194C>T	c.(193-195)GCT>GTT	p.A65V	ENC1_uc011css.1_5'UTR	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	65	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACTGCATGCAGCCAGCACTGC	0.542													A	73932117	G	A	73932117	3	1	248	1	0	0	0	0	1	0	0	0	5113	971	34	2	1579	2	ENC1	5	73932117	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2432544	73932117	106983143	535	122542											
CMYA5	202333	broad.mit.edu	37	chr5	79029657	79029657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatagagagctttgtgCatcttctacgatgcctgcaa	9	8	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79029657C>T	uc003kgc.2	+	2	5141	c.5069C>T	c.(5068-5070)GCA>GTA	p.A1690V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1690						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		GAGCTTTGTGCATCTTCTACG	0.413													T	79029657	C	T	79029657	3	4	248	1	0	0	0	0	1	0	0	0	3590	710	25	2	5075	2	CMYA5	5	79029657	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5097540	79029657	101885603	536	122543											
CMYA5	202333	broad.mit.edu	37	chr5	79034572	79034572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctcccatcacagaggaCgtcagagtggctacccagaa	10	12	2	3	rs140841478	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79034572C>T	uc003kgc.2	+	2	10056	c.9984C>T	c.(9982-9984)GAC>GAT	p.D3328D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3328						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		TCACAGAGGACGTCAGAGTGG	0.483													T	79034572	C	T	79034572	2	4	248	1	0	0	0	0	0	0	0	1	3590	535	19	1		1	CMYA5	5	79034572	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4915	79034572	101880688	537	122544											
FAM151B	167555	broad.mit.edu	37	chr5	79809532	79809532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagtgataatactctacaGgagtggctgactgaagttat	10	6	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79809532G>T	uc003kgv.1	+	3	404	c.261G>T	c.(259-261)CAG>CAT	p.Q87H	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	87											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ATACTCTACAGGAGTGGCTGA	0.398													T	79809532	G	T	79809532	3	4	248	1	0	0	0	0	1	0	0	0	5459	991	35	5	271	5	FAM151B	5	79809532	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	774960	79809532	101105728	538	122545											
MSH3	4437	broad.mit.edu	37	chr5	79966025	79966025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtccaaaagcatctataCgccgctagaattacaataca	6	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79966025C>T	uc003kgz.2	+	4	942	c.689C>T	c.(688-690)ACG>ATG	p.T230M		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	230	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			lung(2)|ovary(1)|breast(1)	4		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)		AGCATCTATACGCCGCTAGAA	0.368								MMR					T	79966025	C	T	79966025	3	4	248	1	0	0	0	0	1	0	0	0	9871	536	19	1	703	1	MSH3	5	79966025	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	156493	79966025	100949235	539	122546											
TTC37	9652	broad.mit.edu	37	chr5	94878927	94878927	+	Frame_Shift_Del	DEL	T	T	-													tctggctctaattcagcagcTtttttataggcactctgggc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:94878926_94878926CT>C	uc003klb.3	-	4	493	c.196_196AG>G	c.(196-198)gctfs	p.A66fs	TTC37_uc010jbf.2_Intron	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	66							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AATTCAGCAGCTTTTTTATAG	0.353													-	94878927	T	-	94878927	7	5	248	1	0	1	0	1	0	0	0	0	16702	1606	56	0	4655	0	TTC37	5	94878927	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	14912902	94878927	86036333	540	122547											
RIOK2	55781	broad.mit.edu	37	chr5	96503200	96503200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattctctatttaatgaCgacaaggcaattagatgagg	9	6	1	4	rs148140829		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:96503200C>T	uc003kmz.2	-	8	1478	c.1368G>A	c.(1366-1368)TCG>TCA	p.S456S	RIOK2_uc003kna.3_Silent_p.S456S	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	456	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		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)		TATTTAATGACGACAAGGCAA	0.398													T	96503200	C	T	96503200	2	4	248	1	0	0	0	0	0	0	0	1	13378	523	19	1		1	RIOK2	5	96503200	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1624273	96503200	84412060	541	122548											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						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)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	248	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	5252528	101755728	79159532	542	122549											
MCC	4163	broad.mit.edu	37	chr5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-													ttggtgtgtggcctggagttCtcctcctctagcagagctat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:112363035_112363037delCTC	uc003kqj.3	-	17	2982_2984	c.2452_2454delGAG	c.(2452-2454)GAGdel	p.E818del	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_In_Frame_Del_p.E1008del	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	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			ovary(1)	1		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)		GCCTGGAGTTCTCCTCCTCTAGC	0.507													-	112363037	CTC	-	112363035	7	5	248	1	0	1	0	1	0	0	0	0	9373	912	32	0	39	0	MCC	5	112363035	In_Frame_Del	DEL	CTC	TCGA-FP-A4BE-01A-12D-A24D-08	10607307	112363035	68552225	543	122550											
TMED7-TICAM2	100302736	broad.mit.edu	37	chr5	114916738	114916738	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaacacctcttcttcagcTtcttcttcaaacatctcttc	3	14	7	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:114916738T>G	uc003krd.2	-	4	1222	c.216A>C	c.(214-216)GAA>GAC	p.E72D	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.E241D|TICAM2_uc003krc.2_Missense_Mutation_p.E72D	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	72					I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						CTTCTTCAGCTTCTTCTTCAA	0.453													G	114916738	T	G	114916738	3	3	248	1	0	0	0	0	1	0	0	0	16007	1606	56	5		5	TMED7-TICAM2	5	114916738	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	2553703	114916738	65998522	544	122551											
HSD17B4	3295	broad.mit.edu	37	chr5	118824919	118824919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaagccagagtatgtgGcacctcttgtcctttggctt	10	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:118824919G>A	uc003ksj.2	+	9	778	c.655G>A	c.(655-657)GCA>ACA	p.A219T	HSD17B4_uc011cwg.1_Missense_Mutation_p.A195T|HSD17B4_uc011cwh.1_Missense_Mutation_p.A201T|HSD17B4_uc011cwi.1_Missense_Mutation_p.A244T|HSD17B4_uc003ksk.3_Missense_Mutation_p.A72T|HSD17B4_uc011cwj.1_Missense_Mutation_p.A72T|HSD17B4_uc010jcn.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	219	(3R)-hydroxyacyl-CoA dehydrogenase.				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			ovary(1)|pancreas(1)	2		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)	AGAGTATGTGGCACCTCTTGT	0.368													A	118824919	G	A	118824919	3	1	248	1	0	0	0	0	1	0	0	0	7386	1203	42	2	689	2	HSD17B4	5	118824919	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3908181	118824919	62090341	545	122552											
FTMT	94033	broad.mit.edu	37	chr5	121187858	121187858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgccgccggcccctctcGggtgcgccagaacttccacc	11	21	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:121187858G>A	uc003kss.2	+	1	209	c.200G>A	c.(199-201)CGG>CAG	p.R67Q		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	67					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCCTCTCGGGTGCGCCAG	0.711													A	121187858	G	A	121187858	3	1	248	1	0	0	0	0	1	0	0	0	6085	1116	39	1	202	1	FTMT	5	121187858	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2362939	121187858	59727402	546	122553											
SNX2	6643	broad.mit.edu	37	chr5	122151619	122151619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacagtaaaacatccaActttactacaggatcctgat	5	9	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:122151619A>G	uc003kte.2	+	8	800	c.751A>G	c.(751-753)ACT>GCT	p.T251A	SNX2_uc011cwn.1_Missense_Mutation_p.T134A	NM_003100	NP_003091	O60749	SNX2_HUMAN	sorting nexin 2	251	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		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)		AAAACATCCAACTTTACTACA	0.289													G	122151619	A	G	122151619	3	3	248	1	0	0	0	0	1	0	0	0	14891	43	2	3	781	3	SNX2	5	122151619	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	963761	122151619	58763641	547	122554											
ZNF608	57507	broad.mit.edu	37	chr5	124079984	124079985	+	Frame_Shift_Ins	INS	-	-	C													ccccaaagccatagaggtgcINScccccggaaggggcctggct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:124079983_124079984G>GC	uc003ktq.1	-	0	882_883	c.699_700C>GC	c.(697-702)gggcacfs	p.G233fs	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Frame_Shift_Ins_p.G233fs|ZNF608_uc003ktt.1_Frame_Shift_Ins_p.G233fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	233						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)		CCATAGAGGTGCCCCCCGGAAG	0.658													C	124079985	-	C	124079984	7	5	248	1	0	1	1	0	0	0	0	0	18031	726	26	0	3875	0	ZNF608	5	124079984	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1928365	124079984	56835276	548	122555											
MEGF10	84466	broad.mit.edu	37	chr5	126784839	126784839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaatgtgaaccctgggAagagaggccctgtgggggac	15	7	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:126784839A>G	uc003kuh.3	+	23	3267	c.2905A>G	c.(2905-2907)AAG>GAG	p.K969E	MEGF10_uc003kui.3_Missense_Mutation_p.K969E	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	969	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		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)		GAACCCTGGGAAGAGAGGCCC	0.463													G	126784839	A	G	126784839	3	3	248	1	0	0	0	0	1	0	0	0	9460	247	9	3	2987	3	MEGF10	5	126784839	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2704855	126784839	54130421	549	122556											
FBN2	2201	broad.mit.edu	37	chr5	127664437	127664437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagcccatctcacactcGcagcgatatgcacccgggac	10	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:127664437G>A	uc003kuu.2	-	34	4861	c.4422C>T	c.(4420-4422)TGC>TGT	p.C1474C	FBN2_uc003kuv.2_Silent_p.C1441C	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1474	EGF-like 24; 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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		TCTCACACTCGCAGCGATATG	0.473													A	127664437	G	A	127664437	2	1	248	1	0	0	0	0	0	0	0	1	5703	1079	38	1		1	FBN2	5	127664437	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	879598	127664437	53250823	550	122557											
CHSY3	337876	broad.mit.edu	37	chr5	129241081	129241081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaagtacctgggcagcCgcgcgctggccgcgcagcgg	17	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:129241081C>T	uc003kvd.2	+	1	559	c.559C>T	c.(559-561)CGC>TGC	p.R187C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	187	Lumenal (Potential).					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			ovary(2)|pancreas(1)	3		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)		CCTGGGCAGCCGCGCGCTGGC	0.751													T	129241081	C	T	129241081	3	4	248	1	0	0	0	0	1	0	0	0	3413	652	23	1	561	1	CHSY3	5	129241081	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1576644	129241081	51674179	551	122558											
AFF4	27125	broad.mit.edu	37	chr5	132232692	132232692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatttctgcctcccacGcccactttctgatccctttt	6	15	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:132232692G>A	uc003kyd.2	-	11	2038	c.1630C>T	c.(1630-1632)CGT>TGT	p.R544C	AFF4_uc011cxk.1_Missense_Mutation_p.R222C|AFF4_uc003kye.1_Missense_Mutation_p.R544C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	544					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCTCCCACGCCCACTTTCT	0.493													A	132232692	G	A	132232692	3	1	248	1	0	0	0	0	1	0	0	0	359	1087	38	1	1905	1	AFF4	5	132232692	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2991611	132232692	48682568	552	122559											
TRPC7	57113	broad.mit.edu	37	chr5	135651372	135651372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggaagttcacatcaccGtttaaaattgcttccacctc	5	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:135651372G>A	uc003lbn.1	-	2	876	c.873C>T	c.(871-873)AAC>AAT	p.N291N	TRPC7_uc010jef.1_Silent_p.N283N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	292	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACATCACCGTTTAAAATTG	0.478													A	135651372	G	A	135651372	2	1	248	1	0	0	0	0	0	0	0	1	16581	1136	40	1		1	TRPC7	5	135651372	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3418680	135651372	45263888	553	122560											
FAM13B	51306	broad.mit.edu	37	chr5	137295364	137295364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtggaatactgacacacGctgcttccccttgaacacca	7	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:137295364G>A	uc003lbz.2	-	13	1916	c.1382C>T	c.(1381-1383)GCG>GTG	p.A461V	FAM13B_uc003lcb.2_Missense_Mutation_p.A343V|FAM13B_uc003lca.2_Missense_Mutation_p.A461V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	461					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ACTGACACACGCTGCTTCCCC	0.383													A	137295364	G	A	137295364	3	1	248	1	0	0	0	0	1	0	0	0	5453	1087	38	1	1479	1	FAM13B	5	137295364	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1643992	137295364	43619896	554	122561											
FAM13B	51306	broad.mit.edu	37	chr5	137346815	137346815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactatttcttgctctttcAtgtcttccacatctgtgtaa	4	11	6	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:137346815A>G	uc003lbz.2	-	6	1106	c.572T>C	c.(571-573)ATG>ACG	p.M191T	FAM13B_uc003lcb.2_Missense_Mutation_p.M73T|FAM13B_uc003lca.2_Missense_Mutation_p.M191T	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	191	Rho-GAP.|Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TTGCTCTTTCATGTCTTCCAC	0.343													G	137346815	A	G	137346815	3	3	248	1	0	0	0	0	1	0	0	0	5453	217	8	3	2317	3	FAM13B	5	137346815	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	51451	137346815	43568445	555	122562											
DND1	373863	broad.mit.edu	37	chr5	140052406	140052406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccacgcgctggaacagCgggataagctggtgctcgta	15	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140052406C>T	uc003lgt.2	-	3	272	c.228G>A	c.(226-228)CCG>CCA	p.P76P		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	76	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGAACAGCGGGATAAGCT	0.672													T	140052406	C	T	140052406	2	4	248	1	0	0	0	0	0	0	0	1	4666	755	27	1		1	DND1	5	140052406	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2705591	140052406	40862854	556	122563											
PCDHA1	56147	broad.mit.edu	37	chr5	140166568	140166568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagttgagctgctgatcacCgtcctcgacgttaatgataa	9	10	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140166568C>T	uc003lhb.2	+	1	693	c.693C>T	c.(691-693)ACC>ACT	p.T231T	PCDHA1_uc003lha.2_Silent_p.T231T|PCDHA1_uc003lgz.2_Silent_p.T231T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	231	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGATCACCGTCCTCGACG	0.458													T	140166568	C	T	140166568	2	4	248	1	0	0	0	0	0	0	0	1	11519	639	23	1		1	PCDHA1	5	140166568	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	114162	140166568	40748692	557	122564											
PCDHA1	56147	broad.mit.edu	37	chr5	140167730	140167730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccggcagcaggcggcgcgCgcatcccgttccgcgtgggg	18	15	0	0	rs140874802		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140167730C>T	uc003lhb.2	+	1	1855	c.1855C>T	c.(1855-1857)CGC>TGC	p.R619C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R619C	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGGCGCGCGCATCCCGTT	0.667													T	140167730	C	T	140167730	3	4	248	1	0	0	0	0	1	0	0	0	11519	768	27	1	1857	1	PCDHA1	5	140167730	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1162	140167730	40747530	558	122565											
PCDHA4	56144	broad.mit.edu	37	chr5	140186810	140186810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggccaggaatcccggcGtctgctgctcttacttcttc	10	14	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140186810G>A	uc003lhi.2	+	1	139	c.38G>A	c.(37-39)CGT>CAT	p.R13H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R13H|PCDHA4_uc011daa.1_Missense_Mutation_p.R13H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	13					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCCCGGCGTCTGCTGCTC	0.522													A	140186810	G	A	140186810	3	1	248	1	0	0	0	0	1	0	0	0	11526	1145	40	1	40	1	PCDHA4	5	140186810	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	19080	140186810	40728450	559	122566											
PCDHA13	56136	broad.mit.edu	37	chr5	140263148	140263148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccgcgcgggacgggggctCgccttcgctgtgggccacgg	19	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140263148C>T	uc003lif.2	+	1	1295	c.1295C>T	c.(1294-1296)TCG>TTG	p.S432L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.S432L|PCDHA13_uc003lid.2_Missense_Mutation_p.S432L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	432	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.652													T	140263148	C	T	140263148	3	4	248	1	0	0	0	0	1	0	0	0	11523	893	31	1	1297	1	PCDHA13	5	140263148	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	76338	140263148	40652112	560	122567											
PCDHB3	56132	broad.mit.edu	37	chr5	140482390	140482390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggaggagcagggcGgcctcggtgggtcgctgctc	19	11	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140482390G>A	uc003lio.2	+	1	2157	c.2157G>A	c.(2155-2157)GCG>GCA	p.A719A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	719	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.667													A	140482390	G	A	140482390	2	1	248	1	0	0	0	0	0	0	0	1	11543	1103	39	1		1	PCDHB3	5	140482390	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	219242	140482390	40432870	561	122568											
PCDHB6	56130	broad.mit.edu	37	chr5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgacaactcgcccttcGtgttgtacccgctgcagaac	8	16	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140531513G>A	uc003lir.2	+	1	1675	c.1675G>A	c.(1675-1677)GTG>ATG	p.V559M	PCDHB6_uc011dah.1_Missense_Mutation_p.V423M	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	559	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721													A	140531513	G	A	140531513	3	1	248	1	0	0	0	0	1	0	0	0	11546	1145	40	1	1677	1	PCDHB6	5	140531513	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	49123	140531513	40383747	562	122569											
PCDHB11	56125	broad.mit.edu	37	chr5	140580945	140580945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgacttccgcgtgggcgCcacagaccgcggctccccgg	13	17	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140580945C>T	uc003liy.2	+	1	1598	c.1598C>T	c.(1597-1599)GCC>GTC	p.A533V	PCDHB11_uc011daj.1_Missense_Mutation_p.A168V	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	533	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGTGGGCGCCACAGACCGC	0.672													T	140580945	C	T	140580945	3	4	248	1	0	0	0	0	1	0	0	0	11536	739	26	2	1600	2	PCDHB11	5	140580945	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	49432	140580945	40334315	563	122570											
PCDHB11	56125	broad.mit.edu	37	chr5	140581300	140581300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacaatggcgagcctccGcgctcggccaccgccacgct	12	17	0	0	rs149838996		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140581300G>A	uc003liy.2	+	1	1953	c.1953G>A	c.(1951-1953)CCG>CCA	p.P651P	PCDHB11_uc011daj.1_Silent_p.P286P	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	651	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCCTCCGCGCTCGGCCA	0.721													A	140581300	G	A	140581300	2	1	248	1	0	0	0	0	0	0	0	1	11536	1074	38	1		1	PCDHB11	5	140581300	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	355	140581300	40333960	564	122571											
PCDHB11	56125	broad.mit.edu	37	chr5	140581426	140581426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtctacttggtggtggcGttggcctcggtgtcttcgct	14	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140581426G>A	uc003liy.2	+	1	2079	c.2079G>A	c.(2077-2079)GCG>GCA	p.A693A	PCDHB11_uc011daj.1_Silent_p.A328A	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	693	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGGCGTTGGCCTCGG	0.692													A	140581426	G	A	140581426	2	1	248	1	0	0	0	0	0	0	0	1	11536	1132	40	1		1	PCDHB11	5	140581426	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	126	140581426	40333834	565	122572											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744367	140744367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggttagtgcttcccttcgCgcgggatgcggatgtgggtg	17	9	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140744367C>T	uc003lju.1	+	1	470	c.470C>T	c.(469-471)GCG>GTG	p.A157V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.A157V	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCTTCGCGCGGGATGCG	0.488													T	140744367	C	T	140744367	3	4	248	1	0	0	0	0	1	0	0	0	11557	768	27	1	472	1	PCDHGA5	5	140744367	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	162941	140744367	40170893	566	122573											
PCDHGC5	56097	broad.mit.edu	37	chr5	140784953	140784953	+	Frame_Shift_Del	DEL	T	T	-													ctttggttccggtgagttcaTtttttttctttctttctttt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140784952_140784952AT>A	uc011dax.2	+	0	2433	c.2433_2433AT>A	c.(2431-2433)tcafs	p.S811fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_032089	NP_114478	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 2, mRNA.	0					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)			CGGTGAGTTCATTTTTTTTCT	0.398													-	140784953	T	-	140784953	7	5	248	1	0	1	0	1	0	0	0	0	11571	1493	52	0		0	PCDHGC5	5	140784953	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	40586	140784953	40130307	567	122574											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856562	140856562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcgccggcgtgcggcaActattcgccttagaccttgt	11	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140856562A>G	uc003lkv.1	+	1	994	c.879A>G	c.(877-879)CAA>CAG	p.Q293Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.Q293Q|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	293	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCGGCAACTATTCGCCT	0.547													G	140856562	A	G	140856562	2	3	248	1	0	0	0	0	0	0	0	1	11569	40	2	3		3	PCDHGC3	5	140856562	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	71609	140856562	40058698	568	122575											
KIAA0141	9812	broad.mit.edu	37	chr5	141305061	141305062	+	Frame_Shift_Ins	INS	-	-	C													tggatgtcttcccgtgtctcINScccgaacaccctatgggatg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:141305060_141305061T>TC	uc003lls.3	+	2	354_355	c.232_233T>TC	c.(232-234)tccfs	p.S78fs	KIAA0141_uc003llt.3_Frame_Shift_Ins_p.S78fs	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	78					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCGTGTCTCCCCGAACACC	0.545													C	141305062	-	C	141305061	7	5	248	1	0	1	1	0	0	0	0	0	8156	855	30	0	243	0	KIAA0141	5	141305061	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	448499	141305061	39610199	569	122576											
KIAA0141	9812	broad.mit.edu	37	chr5	141305077	141305077	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctccccgaacaccctatgGgatgccatatcttgggtaag	10	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:141305077G>A	uc003lls.2	+	3	371	c.249G>A	c.(247-249)TGG>TGA	p.W83*	KIAA0141_uc003llt.2_Nonsense_Mutation_p.W83*	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	83					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCCTATGGGATGCCATAT	0.567													A	141305077	G	A	141305077	4	1	248	1	0	0	0	0	0	1	0	0	8156	1241	43	4	259	4	KIAA0141	5	141305077	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	16	141305077	39610183	570	122577											
ARHGAP26	23092	broad.mit.edu	37	chr5	142264882	142264882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccaaaaagaagtatgAcaaagagacagaaaagtatt	10	4	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:142264882A>G	uc011dbj.1	+	5	439	c.404A>G	c.(403-405)GAC>GGC	p.D135G	ARHGAP26_uc003lmt.2_Missense_Mutation_p.D135G|ARHGAP26_uc003lmw.2_Missense_Mutation_p.D135G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	135					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			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTATGACAAAGAGACA	0.363													G	142264882	A	G	142264882	3	3	248	1	0	0	0	0	1	0	0	0	875	275	10	3	422	3	ARHGAP26	5	142264882	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	959805	142264882	38650378	571	122578											
NIPAL4	348938	broad.mit.edu	37	chr5	156890283	156890283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcctcatcggcagcagCgtcatcctcaagaagaaagg	10	12	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:156890283C>T	uc003lwx.3	+	2	521	c.405C>T	c.(403-405)AGC>AGT	p.S135S	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.S135S|NIPAL4_uc010jin.1_Missense_Mutation_p.A70V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	135	Helical; (Potential).					integral to membrane	receptor activity				0						TCGGCAGCAGCGTCATCCTCA	0.592													T	156890283	C	T	156890283	2	4	248	1	0	0	0	0	0	0	0	1	10427	767	27	1		1	NIPAL4	5	156890283	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	14625401	156890283	24024977	572	122579											
THG1L	54974	broad.mit.edu	37	chr5	157158484	157158484	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagttaaggttcacgattcCttggccaccatttccatcac	6	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:157158484C>A	uc003lxd.2	+	1	162	c.36C>A	c.(34-36)TCC>TCA	p.S12S	THG1L_uc011ddu.1_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	12					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACGATTCCTTGGCCACCA	0.552													A	157158484	C	A	157158484	2	1	248	1	0	0	0	0	0	0	0	1	15858	668	24	5		5	THG1L	5	157158484	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	268201	157158484	23756776	573	122580											
PWWP2A	114825	broad.mit.edu	37	chr5	159545831	159545831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttttggacagatccatgaGgaccccggagaagagcttct	11	11	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:159545831G>T	uc011ded.1	-	1	622	c.565C>A	c.(565-567)CTC>ATC	p.L189I	PWWP2A_uc003lxv.3_Missense_Mutation_p.L189I|PWWP2A_uc011dec.1_Missense_Mutation_p.L189I	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	189											0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATCCATGAGGACCCCGGAG	0.687													T	159545831	G	T	159545831	3	4	248	1	0	0	0	0	1	0	0	0	12845	1000	35	5	1852	5	PWWP2A	5	159545831	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2387347	159545831	21369429	574	122581											
ATP10B	23120	broad.mit.edu	37	chr5	160076224	160076224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgggtttctcacacaCgatggtattgtggaaaagct	12	6	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:160076224C>T	uc003lym.1	-	8	1562	c.715G>A	c.(715-717)GTG>ATG	p.V239M	ATP10B_uc003lyp.2_Missense_Mutation_p.V239M|ATP10B_uc011deg.1_Missense_Mutation_p.V283M|ATP10B_uc003lyo.2_Missense_Mutation_p.V211M	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			TTCTCACACACGATGGTATTG	0.408													T	160076224	C	T	160076224	3	4	248	1	0	0	0	0	1	0	0	0	1117	536	19	1	3746	1	ATP10B	5	160076224	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	530393	160076224	20839036	575	122582											
GABRG2	2566	broad.mit.edu	37	chr5	161576318	161576318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agataaaaagaagaaaaaccCtgtatgtatcattttccatt	5	6	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:161576318C>A	uc003lyz.3	+	8	1485	c.1127C>A	c.(1126-1128)CCT>CAT	p.P376H	GABRG2_uc010jjc.2_Missense_Mutation_p.P416H|GABRG2_uc003lyy.3_Missense_Mutation_p.P376H|GABRG2_uc011dej.1_Missense_Mutation_p.P281H	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	376	Cytoplasmic (Probable).				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			ovary(4)|skin(1)	5	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)		AAGAAAAACCCTGTATGTATC	0.398													A	161576318	C	A	161576318	3	1	248	1	0	0	0	0	1	0	0	0	6172	695	24	5	1281	5	GABRG2	5	161576318	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1500094	161576318	19338942	576	122583											
ODZ2	57451	broad.mit.edu	37	chr5	167589703	167589703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagaccggctggagagGgcccggatgcaacgttgcca	15	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:167589703G>T	uc010jjd.2	+	13	2483	c.2483G>T	c.(2482-2484)GGG>GTG	p.G828V	ODZ2_uc003lzr.3_Missense_Mutation_p.G605V|ODZ2_uc003lzt.3_Missense_Mutation_p.G201V|ODZ2_uc010jje.2_Missense_Mutation_p.G99V|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGCTGGAGAGGGCCCGGATGC	0.562													T	167589703	G	T	167589703	3	4	248	1	0	0	0	0	1	0	0	0	10835	1232	43	5	2533	5	ODZ2	5	167589703	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6013385	167589703	13325557	577	122584											
HK3	3101	broad.mit.edu	37	chr5	176311091	176311091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgacatcttggccctcGcagtctgatgccttgaaacc	8	15	3	2	rs114856191	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:176311091G>A	uc003mfa.2	-	14	1994	c.1902C>T	c.(1900-1902)TGC>TGT	p.C634C	HK3_uc003mez.2_Silent_p.C190C	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	634	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	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)			CTTGGCCCTCGCAGTCTGATG	0.607													A	176311091	G	A	176311091	2	1	248	1	0	0	0	0	0	0	0	1	7192	1079	38	1		1	HK3	5	176311091	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8721388	176311091	4604169	578	122585											
FGFR4	2264	broad.mit.edu	37	chr5	176520545	176520545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccactatgggagttccccCgggacaggtgcgctgagctg	14	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:176520545C>T	uc003mfl.2	+	10	1557	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W	FGFR4_uc003mfm.2_Missense_Mutation_p.R464W|FGFR4_uc011dfu.1_Intron|FGFR4_uc003mfo.2_Missense_Mutation_p.R424W	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	464	Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	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)	GGAGTTCCCCCGGGACAGGTG	0.682										TSP Lung(9;0.080)			T	176520545	C	T	176520545	3	4	248	1	0	0	0	0	1	0	0	0	5868	643	23	1	1494	1	FGFR4	5	176520545	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	209454	176520545	4394715	579	122586											
DDX41	51428	broad.mit.edu	37	chr5	176942772	176942772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtatttcttccgcacgCgctcatgtcgctcttcagac	9	13	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:176942772C>T	uc003mho.2	-	6	506	c.485G>A	c.(484-486)CGC>CAC	p.R162H	DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Missense_Mutation_p.R31H|DDX41_uc003mhp.2_Missense_Mutation_p.R31H|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	162					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			cttccgcacgcgctcatgtcg	0.124													T	176942772	C	T	176942772	3	4	248	1	0	0	0	0	1	0	0	0	4361	768	27	1	1431	1	DDX41	5	176942772	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	422227	176942772	3972488	580	122587											
AGXT2L2	85007	broad.mit.edu	37	chr5	177658438	177658438	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgcaatcgatgtatTctgccccctgttcatcgtac	8	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:177658438T>G	uc003miz.2	-	2	398	c.146A>C	c.(145-147)GAA>GCA	p.E49A	AGXT2L2_uc003mjc.2_Missense_Mutation_p.E8A|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	49						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|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)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATCGATGTATTCTGCCCCCTG	0.562													G	177658438	T	G	177658438	3	3	248	1	0	0	0	0	1	0	0	0	407	1783	62	5	1250	5	AGXT2L2	5	177658438	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	715666	177658438	3256822	581	122588											
AGXT2L2	85007	broad.mit.edu	37	chr5	177658483	177658483	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcccttgggcccggacaAtcttaacaggatcctcggga	11	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:177658483A>C	uc003miz.2	-	2	353	c.101T>G	c.(100-102)ATT>AGT	p.I34S	AGXT2L2_uc003mjc.2_5'UTR|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	34						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|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)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGCCCGGACAATCTTAACAGG	0.537													C	177658483	A	C	177658483	3	2	248	1	0	0	0	0	1	0	0	0	407	101	4	5	1295	5	AGXT2L2	5	177658483	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	45	177658483	3256777	582	122589											
ZFP2	80108	broad.mit.edu	37	chr5	178359347	178359347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcatctctaactcaacatCggagaattcacactggagag	7	10	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:178359347C>T	uc003mjn.1	+	5	1542	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	ZFP2_uc010jky.2_Missense_Mutation_p.R345W|ZFP2_uc010jkx.1_Missense_Mutation_p.R345W	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	345	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	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)		AACTCAACATCGGAGAATTCA	0.398													T	178359347	C	T	178359347	3	4	248	1	0	0	0	0	1	0	0	0	17638	875	31	1	1035	1	ZFP2	5	178359347	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	700864	178359347	2555913	583	122590											
ZNF454	285676	broad.mit.edu	37	chr5	178392167	178392167	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtggcaaggccttctcAgtgagctcctcacttacgta	10	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:178392167A>G	uc003mjo.1	+	5	1033	c.762A>G	c.(760-762)TCA>TCG	p.S254S	ZNF454_uc010jkz.1_Silent_p.S254S	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	254	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGGCCTTCTCAGTGAGCTCCT	0.433													G	178392167	A	G	178392167	2	3	248	1	0	0	0	0	0	0	0	1	17920	175	7	3		3	ZNF454	5	178392167	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	32820	178392167	2523093	584	122591											
ZNF354C	30832	broad.mit.edu	37	chr5	178503473	178503473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacattcagggatgtggccGtgttcttcagccaggacgag	14	9	3	1	rs138654012		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:178503473G>A	uc003mju.2	+	3	170	c.55G>A	c.(55-57)GTG>ATG	p.V19M		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		GGATGTGGCCGTGTTCTTCAG	0.557													A	178503473	G	A	178503473	3	1	248	1	0	0	0	0	1	0	0	0	17863	1145	40	1	61	1	ZNF354C	5	178503473	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	111306	178503473	2411787	585	122592											
RUFY1	80230	broad.mit.edu	37	chr5	179007984	179007984	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccttgatcaaaaaaaTtatgtggaagaacttaaccg	8	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:179007984T>A	uc003mka.1	+	7	927	c.927T>A	c.(925-927)AAT>AAA	p.N309K	RUFY1_uc003mkb.1_Missense_Mutation_p.N201K|RUFY1_uc003mkc.1_Missense_Mutation_p.N201K	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	309					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	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)			ATCAAAAAAATTATGTGGAAG	0.333										HNSCC(44;0.11)			A	179007984	T	A	179007984	3	1	248	1	0	0	0	0	1	0	0	0	13738	1490	52	5	953	5	RUFY1	5	179007984	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	504511	179007984	1907276	586	122593											
FLT4	2324	broad.mit.edu	37	chr5	180053023	180053024	+	Frame_Shift_Ins	INS	-	-	G													gcctccttctcatgtatctgINSggggggcactgtgggcacac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:180053022_180053023T>TG	uc003mlz.4	-	9	1346_1347	c.1267_1268A>CA	c.(1267-1269)cagfs	p.Q423fs	FLT4_uc003mma.4_Frame_Shift_Ins_p.Q423fs|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Frame_Shift_Ins_p.Q423fs	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	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(3)|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)	CTCATGTATCTGGGGGGGCACT	0.673													G	180053024	-	G	180053023	7	5	248	1	0	1	1	0	0	0	0	0	5944	1357	47	0	2916	0	FLT4	5	180053023	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1045039	180053023	862237	587	122594											
F13A1	2162	broad.mit.edu	37	chr6	6167823	6167823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgacccatgtactcgccGgcttggatcagcaccgcctc	10	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:6167823G>A	uc003mwv.2	-	13	1899	c.1776C>T	c.(1774-1776)GCC>GCT	p.A592A	F13A1_uc011dib.1_Silent_p.A529A	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	592					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGTACTCGCCGGCTTGGATCA	0.512													A	6167823	G	A	6167823	2	1	248	1	0	0	0	0	0	0	0	1	5340	1103	39	1		1	F13A1	6	6167823	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		6167823	164947244	588	122595											
SLC35B3	51000	broad.mit.edu	37	chr6	8428193	8428193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttttgtcctgaataagCtgaagttctattaggccaaa	7	9	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:8428193C>T	uc010joe.2	-	4	562	c.396G>A	c.(394-396)CAG>CAA	p.Q132Q	SLC35B3_uc003mya.2_Silent_p.Q100Q|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Silent_p.Q132Q|SLC35B3_uc011did.1_Silent_p.Q132Q|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	132	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					CCTGAATAAGCTGAAGTTCTA	0.333													T	8428193	C	T	8428193	2	4	248	1	0	0	0	0	0	0	0	1	14577	796	28	2		2	SLC35B3	6	8428193	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2260370	8428193	162686874	589	122596											
GCM2	9247	broad.mit.edu	37	chr6	10881950	10881950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttacctgaggcatctgcGgatcgttgatgtcccagctg	11	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:10881950G>A	uc003mzn.3	-	1	149	c.77C>T	c.(76-78)CCG>CTG	p.P26L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	26	GCM.				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGCATCTGCGGATCGTTGAT	0.642													A	10881950	G	A	10881950	3	1	248	1	0	0	0	0	1	0	0	0	6298	1116	39	1	1463	1	GCM2	6	10881950	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2453757	10881950	160233117	590	122597											
HIVEP1	3096	broad.mit.edu	37	chr6	12121957	12121957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcacgtaggaacggtacaCgcccagctacaaaggcagca	10	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:12121957C>T	uc003nac.2	+	4	2108	c.1929C>T	c.(1927-1929)CAC>CAT	p.H643H	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	643					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAACGGTACACGCCCAGCTAC	0.502													T	12121957	C	T	12121957	2	4	248	1	0	0	0	0	0	0	0	1	7186	535	19	1		1	HIVEP1	6	12121957	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1240007	12121957	158993110	591	122598											
KIF13A	63971	broad.mit.edu	37	chr6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-													atacctgttttattgctgacTttttttatctgttcatccag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:17788023delT	uc003ncg.3	-	27	3450	c.3345delA	c.(3343-3345)AAAfs	p.K1115fs	KIF13A_uc003ncf.2_Frame_Shift_Del_p.K1102fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.K1115fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.K1102fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1115	Potential.				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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATTGCTGACTTTTTTTATCT	0.413													-	17788023	T	-	17788023	7	5	248	1	0	1	0	1	0	0	0	0	8274	1606	56	0	2149	0	KIF13A	6	17788023	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	5666066	17788023	153327044	592	122599											
OR2B6	26212	broad.mit.edu	37	chr6	27925401	27925401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtttgtagctatttgtcGgcctctccattactcagtta	8	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:27925401G>A	uc011dkx.1	+	1	383	c.383G>A	c.(382-384)CGG>CAG	p.R128Q		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCTATTTGTCGGCCTCTCCAT	0.493													A	27925401	G	A	27925401	3	1	248	1	0	0	0	0	1	0	0	0	10991	1116	39	1	385	1	OR2B6	6	27925401	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	10137378	27925401	143189666	593	122600											
ZNF311	282890	broad.mit.edu	37	chr6	28964128	28964129	+	Frame_Shift_Ins	INS	-	-	T													gcactttctggttctttcctINStttttgcaggtcacttcctc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:28964127_28964128C>CT	uc003nlu.2	-	6	1162_1163	c.651_652G>AG	c.(649-654)aaaggafs	p.K217fs	ZNF311_uc011dlk.1_Frame_Shift_Ins_p.K125fs|ZNF311_uc003nlv.2_Frame_Shift_Ins_p.K125fs	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGGTTCTTTCCTTTTTTGCAGG	0.366													T	28964129	-	T	28964128	7	5	248	1	0	1	1	0	0	0	0	0	17831	1606	56	0	1353	0	ZNF311	6	28964128	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1038727	28964128	142150939	594	122601											
MDC1	9656	broad.mit.edu	37	chr6	30670572	30670572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctcagtgcgtcttgaAggctaaagccaaagttcttc	9	12	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30670572A>G	uc003nrg.3	-	13	6388	c.5948T>C	c.(5947-5949)CTT>CCT	p.L1983P	MDC1_uc003nrf.3_Missense_Mutation_p.L614P	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1983	Required for nuclear localization (NLS2).				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)|ovary(1)|kidney(1)	4						TGCGTCTTGAAGGCTAAAGCC	0.547								Other_conserved_DNA_damage_response_genes					G	30670572	A	G	30670572	3	3	248	1	0	0	0	0	1	0	0	0	9403	72	3	3	333	3	MDC1	6	30670572	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1706444	30670572	140444495	595	122602											
DDR1	780	broad.mit.edu	37	chr6	30859887	30859887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctatgactatgtgggatgGagcaaccacagcttctccag	12	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30859887G>T	uc003nrr.2	+	8	1033	c.774G>T	c.(772-774)TGG>TGT	p.W258C	DDR1_uc010jse.2_Missense_Mutation_p.W258C|DDR1_uc003nrq.2_Missense_Mutation_p.W258C|DDR1_uc003nrs.2_Missense_Mutation_p.W258C|DDR1_uc003nrt.2_Missense_Mutation_p.W258C|DDR1_uc011dms.1_Missense_Mutation_p.W276C|DDR1_uc003nru.2_Missense_Mutation_p.W258C|DDR1_uc011dmu.1_Missense_Mutation_p.G225V|DDR1_uc003nrv.2_Missense_Mutation_p.W258C|DDR1_uc003nrw.1_Missense_Mutation_p.W57C|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	258	Extracellular (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	ATGTGGGATGGAGCAACCACA	0.587													T	30859887	G	T	30859887	3	4	248	1	0	0	0	0	1	0	0	0	4336	1183	41	5	796	5	DDR1	6	30859887	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	189315	30859887	140255180	596	122603											
GTF2H4	2968	broad.mit.edu	37	chr6	30876949	30876949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgtctggctgtcttcAggtgagaagccccttcatgg	11	12	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30876949A>G	uc003nsa.1	+	2	343	c.136A>G	c.(136-138)AGG>GGG	p.R46G	GTF2H4_uc010jsf.2_Missense_Mutation_p.R46G|GTF2H4_uc011dmv.1_Intron|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.R52G	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	46					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						GGCTGTCTTCAGGTGAGAAGC	0.532								NER					G	30876949	A	G	30876949	3	3	248	1	0	0	0	0	1	0	0	0	6865	202	7	3	138	3	GTF2H4	6	30876949	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	17062	30876949	140238118	597	122604											
GTF2H4	2968	broad.mit.edu	37	chr6	30879212	30879212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctttctccctagagccGgggcatggacctggtagaga	13	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30879212G>A	uc003nsa.1	+	8	884	c.677G>A	c.(676-678)CGG>CAG	p.R226Q	GTF2H4_uc010jsf.2_Missense_Mutation_p.R226Q|GTF2H4_uc011dmv.1_Missense_Mutation_p.R170Q|GTF2H4_uc003nsb.1_Missense_Mutation_p.R64Q|GTF2H4_uc011dmw.1_Missense_Mutation_p.R232Q|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	226					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						CCCTAGAGCCGGGGCATGGAC	0.532								NER					A	30879212	G	A	30879212	3	1	248	1	0	0	0	0	1	0	0	0	6865	1116	39	1	703	1	GTF2H4	6	30879212	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2263	30879212	140235855	598	122605											
MUC21	394263	broad.mit.edu	37	chr6	30955877	30955877	+	Frame_Shift_Del	DEL	C	C	-													ccctggagggaatcatggagCcccccacaggcccaggtgga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30955877delC	uc003nsh.2	+	3	1858	c.1607delC	c.(1606-1608)GCCfs	p.A536fs	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	536	Cytoplasmic (Potential).|Cytoplasmic tail.					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AATCATGGAGCCCCCCACAGG	0.592													-	30955877	C	-	30955877	7	5	248	1	0	1	0	1	0	0	0	0	9977	739	26	0	1617	0	MUC21	6	30955877	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	76665	30955877	140159190	599	122606											
BAT3	7917	broad.mit.edu	37	chr6	31612889	31612889	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccacggatgaggcctgcccAggaccagggggaggtgcctc	17	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31612889A>T	uc003nvg.3	-	10	1535	c.1221T>A	c.(1219-1221)CCT>CCA	p.P407P	BAT3_uc003nvf.3_Silent_p.P401P|BAT3_uc003nvh.3_Silent_p.P401P|BAT3_uc003nvi.3_Silent_p.P401P|BAT3_uc011dnw.1_Silent_p.P401P|BAT3_uc011dnx.1_Silent_p.P401P|BAT3_uc003nvj.1_Silent_p.P401P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	407	Pro-rich.|4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						AGGCCTGCCCAGGACCAGGGG	0.632													T	31612889	A	T	31612889	2	4	248	1	0	0	0	0	0	0	0	1	1322	175	7	5		5	BAT3	6	31612889	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	657012	31612889	139502178	600	122607											
LY6G5B	58496	broad.mit.edu	37	chr6	31638784	31638784	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcttcacagtaggaaaGggtaagtggggcccaggggc	19	7	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31638784G>T	uc003nvt.1	+	1	57	c.57G>T	c.(55-57)AAG>AAT	p.K19N	CSNK2B_uc003nvs.1_Intron	NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex G5B precursor	19						extracellular region					0						CAGTAGGAAAGGGTAAGTGGG	0.587													T	31638784	G	T	31638784	3	4	248	1	0	0	0	0	1	0	0	0	9092	1014	35	5	59	5	LY6G5B	6	31638784	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	25895	31638784	139476283	601	122608											
C6orf27	80737	broad.mit.edu	37	chr6	31740831	31740833	+	In_Frame_Del	DEL	CTC	CTC	-													tggattttggcagcgttgatCtcctcacccatgctgcccgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31740831_31740833delCTC	uc011dog.1	-	7	1223_1225	c.985_987delGAG	c.(985-987)GAGdel	p.E329del	C6orf27_uc003nxd.2_In_Frame_Del_p.E4del|C6orf27_uc011doh.1_RNA	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	329						extracellular region				ovary(3)	3						CAGCGTTGATCTCCTCACCCATG	0.616													-	31740833	CTC	-	31740831	7	5	248	1	0	1	0	1	0	0	0	0	2362	912	32	0	1731	0	C6orf27	6	31740831	In_Frame_Del	DEL	CTC	TCGA-FP-A4BE-01A-12D-A24D-08	102047	31740831	139374236	602	122609											
VARS	7407	broad.mit.edu	37	chr6	31747487	31747487	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgtcacgaagggcatgaaGggtgagagcagccgcaggcc	16	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31747487G>T	uc003nxe.2	-	27	3609	c.3186C>A	c.(3184-3186)CCC>CCA	p.P1062P	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1062					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	AGGGCATGAAGGGTGAGAGCA	0.642													T	31747487	G	T	31747487	2	4	248	1	0	0	0	0	0	0	0	1	17120	987	35	5		5	VARS	6	31747487	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6656	31747487	139367580	603	122610											
VARS	7407	broad.mit.edu	37	chr6	31750092	31750092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccaggcatgccatgtgCgctgatgggcctcaggcagg	14	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31750092C>T	uc003nxe.2	-	17	2543	c.2120G>A	c.(2119-2121)CGC>CAC	p.R707H	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	707					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	ATGCCATGTGCGCTGATGGGC	0.677													T	31750092	C	T	31750092	3	4	248	1	0	0	0	0	1	0	0	0	17120	768	27	1	1730	1	VARS	6	31750092	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2605	31750092	139364975	604	122611											
ATF6B	1388	broad.mit.edu	37	chr6	32087711	32087711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctggactcgaatagcacCctggatgaggacaactgggg	15	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:32087711C>A	uc003nzn.2	-	9	889	c.856G>T	c.(856-858)GGT>TGT	p.G286C	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.G283C|ATF6B_uc003nzp.1_5'UTR	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	286	Cytoplasmic (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGAATAGCACCCTGGATGAGG	0.627													A	32087711	C	A	32087711	3	1	248	1	0	0	0	0	1	0	0	0	1085	623	22	5	1295	5	ATF6B	6	32087711	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	337619	32087711	139027356	605	122612											
HLA-DRA	3122	broad.mit.edu	37	chr6	32411068	32411068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagtggtcaatgtcacGtggcttcgaaatggaaaacc	10	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:32411068G>A	uc003obh.2	+	3	516	c.435G>A	c.(433-435)ACG>ACA	p.T145T	HLA-DRA_uc003obi.2_Silent_p.T120T	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	145	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						TCAATGTCACGTGGCTTCGAA	0.522									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				A	32411068	G	A	32411068	2	1	248	1	0	0	0	0	0	0	0	1	7207	1132	40	1		1	HLA-DRA	6	32411068	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	323357	32411068	138703999	606	122613											
BRD2	6046	broad.mit.edu	37	chr6	32946024	32946024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagcatcgaggccgagCtggggccgatgaagatgaca	16	8	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:32946024C>T	uc003ocn.3	+	10	3401	c.1700C>T	c.(1699-1701)GCT>GTT	p.A567V	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.A567V|BRD2_uc003ocp.3_Missense_Mutation_p.A447V|BRD2_uc010juh.2_Missense_Mutation_p.A567V	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	567					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CGAGGCCGAGCTGGGGCCGAT	0.547													T	32946024	C	T	32946024	3	4	248	1	0	0	0	0	1	0	0	0	1502	797	28	2	1734	2	BRD2	6	32946024	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	534956	32946024	138169043	607	122614											
HLA-DPA1	3113	broad.mit.edu	37	chr6	33037042	33037042	+	Frame_Shift_Del	DEL	C	C	-													gttgggctggcccagctccaCaggctccttgggaaacacgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:33037042delC	uc003ocs.1	-	3	413	c.382delG	c.(382-384)GTGfs	p.V128fs	HLA-DPA1_uc010juk.2_Frame_Shift_Del_p.V128fs|HLA-DPA1_uc003oct.1_Frame_Shift_Del_p.V128fs	NM_033554	NP_291032	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP	128	Alpha-2.|Ig-like C1-type.|Extracellular (Potential).				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			skin(1)	1						CCCAGCTCCACAGGCTCCTTG	0.577													-	33037042	C	-	33037042	7	5	248	1	0	1	0	1	0	0	0	0	7202	478	17	0	408	0	HLA-DPA1	6	33037042	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	91018	33037042	138078025	608	122615											
RXRB	6257	broad.mit.edu	37	chr6	33162723	33162723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagccccatctcaccGtccctgctgctcagggtact	7	21	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:33162723G>A	uc003odb.2	-	9	1632	c.1453C>T	c.(1453-1455)CGG>TGG	p.R485W	RXRB_uc003odc.2_Missense_Mutation_p.R489W|RXRB_uc003odd.2_Missense_Mutation_p.R389W|RXRB_uc011dqr.1_Missense_Mutation_p.R299W	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	485	Ligand-binding (By similarity).				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			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCATCTCACCGTCCCTGCTGC	0.597													A	33162723	G	A	33162723	3	1	248	1	0	0	0	0	1	0	0	0	13764	1159	40	1	156	1	RXRB	6	33162723	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	125681	33162723	137952344	609	122616											
RPS18	6222	broad.mit.edu	37	chr6	33240412	33240412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcaactagtctctagTgatccctgaaaagttccagc	6	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:33240412T>C	uc003odp.1	+	2	56	c.11T>C	c.(10-12)GTG>GCG	p.V4A	VPS52_uc003odm.1_5'Flank|VPS52_uc003odn.1_5'Flank|VPS52_uc003odo.1_5'Flank|VPS52_uc011dqy.1_5'Flank|VPS52_uc011dqz.1_5'Flank|RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	4					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						TAGTCTCTAGTGATCCCTGAA	0.418													C	33240412	T	C	33240412	3	2	248	1	0	0	0	0	1	0	0	0	13628	1696	59	3	17	3	RPS18	6	33240412	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	77689	33240412	137874655	610	122617											
SCUBE3	222663	broad.mit.edu	37	chr6	35200696	35200696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagacacccaaggggggtaTtgcctgtgaatgccgtcctg	15	10	0	2	rs147288110		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:35200696T>C	uc003okf.1	+	5	545	c.539T>C	c.(538-540)ATT>ACT	p.I180T	SCUBE3_uc003okg.1_Missense_Mutation_p.I179T|SCUBE3_uc003okh.1_Missense_Mutation_p.I51T	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	180	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AAGGGGGGTATTGCCTGTGAA	0.527													C	35200696	T	C	35200696	3	2	248	1	0	0	0	0	1	0	0	0	13946	1493	52	3	557	3	SCUBE3	6	35200696	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1960284	35200696	135914371	611	122618											
FANCE	2178	broad.mit.edu	37	chr6	35427229	35427229	+	Frame_Shift_Del	DEL	C	C	-													tgtgctccaggccccaggcaCaggtaattctggaaccagcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:35427229delC	uc003oko.1	+	6	1420	c.1235delC	c.(1234-1236)ACAfs	p.T412fs	FANCE_uc010jvw.1_Frame_Shift_Del_p.T405fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	412					DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						GCCCCAGGCACAGGTAATTCT	0.597			N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				-	35427229	C	-	35427229	7	5	248	1	0	1	0	1	0	0	0	0	5666	478	17	0	1257	0	FANCE	6	35427229	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	226533	35427229	135687838	612	122619											
LHFPL5	222662	broad.mit.edu	37	chr6	35773660	35773660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctactgcgtgggtaaCgtgctgtcctccgagctcat	10	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:35773660C>T	uc003olg.1	+	1	590	c.213C>T	c.(211-213)AAC>AAT	p.N71N		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	71	Helical; (Potential).					integral to membrane				skin(1)	1						GCGTGGGTAACGTGCTGTCCT	0.587													T	35773660	C	T	35773660	2	4	248	1	0	0	0	0	0	0	0	1	8768	535	19	1		1	LHFPL5	6	35773660	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	346431	35773660	135341407	613	122620											
C6orf89	221477	broad.mit.edu	37	chr6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C													aaagaatgaacctcagagacINScccccccgcagtatcctctc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													C	36867372	-	C	36867371	7	5	248	1	0	1	1	0	0	0	0	0	2373	507	18	0	178	0	C6orf89	6	36867371	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1093711	36867371	134247696	614	122621											
MDGA1	266727	broad.mit.edu	37	chr6	37617966	37617966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctggcagcggtaggtccCgctcatgtctcggctcactc	12	15	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:37617966C>T	uc003onu.1	-	8	2707	c.1528G>A	c.(1528-1530)GGG>AGG	p.G510R		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	510	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CGGTAGGTCCCGCTCATGTCT	0.682													T	37617966	C	T	37617966	3	4	248	1	0	0	0	0	1	0	0	0	9406	652	23	1	1379	1	MDGA1	6	37617966	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	750595	37617966	133497101	615	122622											
BTBD9	114781	broad.mit.edu	37	chr6	38160312	38160312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctcatttgctgtgttgtGtgtcccaacgatacggatga	10	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:38160312G>A	uc003ooa.3	-	11	2200	c.1624C>T	c.(1624-1626)CAC>TAC	p.H542Y	BTBD9_uc003ony.3_Missense_Mutation_p.H474Y|BTBD9_uc010jwv.2_Missense_Mutation_p.H503Y|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.H542Y	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	542					cell adhesion						0						GCTGTGTTGTGTGTCCCAACG	0.453													A	38160312	G	A	38160312	3	1	248	1	0	0	0	0	1	0	0	0	1548	1377	48	4	222	4	BTBD9	6	38160312	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	542346	38160312	132954755	616	122623											
DNAH8	1769	broad.mit.edu	37	chr6	38771012	38771012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtaagcatgtggaagaaGctgtcagagaacttatatca	10	5	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:38771012G>A	uc003ooe.1	+	20	2908	c.2308G>A	c.(2308-2310)GCT>ACT	p.A770T		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGTGGAAGAAGCTGTCAGAGA	0.328													A	38771012	G	A	38771012	3	1	248	1	0	0	0	0	1	0	0	0	4607	971	34	2	2378	2	DNAH8	6	38771012	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	610700	38771012	132344055	617	122624											
DNAH8	1769	broad.mit.edu	37	chr6	38885824	38885825	+	Frame_Shift_Ins	INS	-	-	A													ttatacttttgaaagtgccaINSaaaaagtctgtgggaatgtg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:38885823_38885824C>CA	uc021yzh.1	+	69	10540_10541	c.10431_10432C>CA	c.(10429-10434)gccaaafs	p.A3477fs	DNAH8_uc003ooe.2_Frame_Shift_Ins_p.A3260fs|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						TTGAAAGTGCCAAAAAAGTCTG	0.396													A	38885825	-	A	38885824	7	5	248	1	0	1	1	0	0	0	0	0	4607	131	5	0	10043	0	DNAH8	6	38885824	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	114812	38885824	132229243	618	122625											
KIF6	221458	broad.mit.edu	37	chr6	39580993	39580993	+	Frame_Shift_Del	DEL	A	A	-													tcattcggttggtgtctcctAaaaaaagcaaattcagagct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:39580992_39580992TA>T	uc003oot.2	-	5	707	c.612_612TA>A	c.(610-612)ttafs	p.L204fs	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Frame_Shift_Del_p.L204fs|KIF6_uc010jxb.1_Frame_Shift_Del_p.L204fs	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	204	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						TGGTGTCTCCTAAAAAAAGCA	0.398													-	39580993	A	-	39580993	7	5	248	1	0	1	0	1	0	0	0	0	8308	372	13	0	1905	0	KIF6	6	39580993	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	695169	39580993	131534074	619	122626											
FRS3	10817	broad.mit.edu	37	chr6	41738509	41738516	+	Frame_Shift_Del	DEL	TGGGGGCT	TGGGGGCT	-													ggcagggtgggtggtgggcaTgggggcttgggggctcgagg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:41738508_41738515ATGGGGGCT>A	uc003orc.1	-	6	1565_1572	c.1321_1328AGCCCCCAT>T	c.(1321-1329)gcccccatgfs	p.A441fs		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	441					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.Q440H(1)		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)			GGTGGTGGGCATGGGGGCTTGGGGGCTC	0.649													-	41738516	TGGGGGCT	-	41738509	7	5	248	1	0	1	0	1	0	0	0	0	6062	1464	51	0	155	0	FRS3	6	41738509	Frame_Shift_Del	DEL	TGGGGGCT	TCGA-FP-A4BE-01A-12D-A24D-08	2157516	41738509	129376558	620	122627											
FRS3	10817	broad.mit.edu	37	chr6	41739036	41739036	+	Frame_Shift_Del	DEL	G	G	-													cattgttattattgtggtgtGgggggtcatgcaggctggga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:41739035_41739035TG>T	uc003orc.1	-	6	1045	c.801_801CA>A	c.(799-801)ccafs	p.P267fs		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	267					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)			TATTGTGGTGTGGGGGGTCAT	0.632													-	41739036	G	-	41739036	7	5	248	1	0	1	0	1	0	0	0	0	6062	1348	47	0	682	0	FRS3	6	41739036	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	527	41739036	129376031	621	122628											
TRERF1	55809	broad.mit.edu	37	chr6	42236161	42236161	+	Frame_Shift_Del	DEL	G	G	-													caggtggctctgctggtagaGggggtggctgtagggctgct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:42236161delG	uc003osd.2	-	5	1731	c.1168delC	c.(1168-1170)CTCfs	p.L390fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.L390fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.L390fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	390	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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGTAGAGGGGGTGGCTG	0.612													-	42236161	G	-	42236161	7	5	248	1	0	1	0	1	0	0	0	0	16472	1000	35	0	2490	0	TRERF1	6	42236161	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	497125	42236161	128878906	622	122629											
PEX6	5190	broad.mit.edu	37	chr6	42937691	42937691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctggagcttccccaaCtgttttcttcactttaaaaa	4	12	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:42937691C>T	uc003otf.2	-	4	1258	c.1165G>A	c.(1165-1167)GTT>ATT	p.V389I	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	389					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			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)			GCTTCCCCAACTGTTTTCTTC	0.542													T	42937691	C	T	42937691	3	4	248	1	0	0	0	0	1	0	0	0	11750	565	20	4	1833	4	PEX6	6	42937691	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	701530	42937691	128177376	623	122630											
PPP2R5D	5528	broad.mit.edu	37	chr6	42978440	42978440	+	Frame_Shift_Del	DEL	A	A	-													ggaaagggaagagatgtggcAaaaaatcgaggagctggccc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:42978439_42978439CA>C	uc003oth.3	+	13	1605	c.1519_1519CA>C	c.(1519-1521)caafs	p.Q507fs	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Frame_Shift_Del_p.Q401fs|PPP2R5D_uc011dva.2_Frame_Shift_Del_p.Q356fs|PPP2R5D_uc003oti.3_Frame_Shift_Del_p.Q356fs|PPP2R5D_uc021yzq.1_Frame_Shift_Del_p.Q475fs|PPP2R5D_uc003otj.3_Frame_Shift_Del_p.Q338fs	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	507					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)			AGAGATGTGGCAAAAAATCGA	0.547													-	42978440	A	-	42978440	7	5	248	1	0	1	0	1	0	0	0	0	12395	130	5	0	1574	0	PPP2R5D	6	42978440	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	40749	42978440	128136627	624	122631											
MRPL2	51069	broad.mit.edu	37	chr6	43022057	43022057	+	Frame_Shift_Del	DEL	G	G	-													agcttcacgtaactcttcatGgggggtagtggccgaatctt					rs71547829		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43022056_43022056TG>T	uc003ots.1	-	6	997	c.874_874CA>A	c.(874-876)atgfs	p.M292fs	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	292					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)		TAACTCTTCATGGGGGGTAGT	0.582													-	43022057	G	-	43022057	7	5	248	1	0	1	0	1	0	0	0	0	9785	1335	47	0	48	0	MRPL2	6	43022057	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	43617	43022057	128093010	625	122632											
KLC4	89953	broad.mit.edu	37	chr6	43038170	43038170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagagcctctgtgccagCgggcactggagattcgagaa	15	10	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43038170C>T	uc003otv.1	+	7	1035	c.958C>T	c.(958-960)CGG>TGG	p.R320W	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.R243W|KLC4_uc003otw.1_Missense_Mutation_p.R338W|KLC4_uc003otx.1_Missense_Mutation_p.R320W|KLC4_uc003oty.1_Missense_Mutation_p.R320W|KLC4_uc003otz.1_Missense_Mutation_p.R320W	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	320	TPR 4.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			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)			TCTGTGCCAGCGGGCACTGGA	0.557											OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43038170	C	T	43038170	3	4	248	1	0	0	0	0	1	0	0	0	8336	759	27	1	1107	1	KLC4	6	43038170	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	16113	43038170	128076897	626	122633											
CUL9	23113	broad.mit.edu	37	chr6	43191082	43191082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagcacgggcatggagCtgctccggcggatccaggag	16	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43191082C>T	uc003ouk.2	+	39	7306	c.7231C>T	c.(7231-7233)CTG>TTG	p.L2411L	CUL9_uc003oul.2_Silent_p.L2383L|CUL9_uc010jyk.2_Silent_p.L1563L|CUL9_uc003oun.2_Silent_p.L206L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2411					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGGCATGGAGCTGCTCCGGCG	0.672													T	43191082	C	T	43191082	2	4	248	1	0	0	0	0	0	0	0	1	4061	796	28	2		2	CUL9	6	43191082	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	152912	43191082	127923985	627	122634											
GTPBP2	54676	broad.mit.edu	37	chr6	43589374	43589376	+	In_Frame_Del	DEL	CTT	CTT	-													gaagcccatgttggcctgggCttctcctgctgtaatggctt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43589373_43589375GCTT>G	uc003ovs.3	-	11	1822_1824	c.1785_1787AAGC>C	c.(1783-1788)gaagcc>gaCc	p.595_596EA>D	GTPBP2_uc010jyv.3_In_Frame_Del_p.507_508EA>D	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	595							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTTGGCCTGGGCTTCTCCTGCTG	0.552													-	43589376	CTT	-	43589374	7	5	248	1	0	1	0	1	0	0	0	0	6880	797	28	0	26	0	GTPBP2	6	43589374	In_Frame_Del	DEL	CTT	TCGA-FP-A4BE-01A-12D-A24D-08	398292	43589374	127525693	628	122635											
CDC5L	988	broad.mit.edu	37	chr6	44376337	44376337	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttgctcttagaacaccaCgaacaccagcttcccaggac	8	15	1	1	rs148664123		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:44376337C>T	uc003oxl.2	+	8	1319	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	354	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			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAGAACACCACGAACACCAGC	0.438													T	44376337	C	T	44376337	4	4	248	1	0	0	0	0	0	1	0	0	3082	528	19	1	1090	1	CDC5L	6	44376337	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	786963	44376337	126738730	629	122636											
TDRD6	221400	broad.mit.edu	37	chr6	46657015	46657015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtatggactctgggacGgtgggagaggctggtctcgg	18	7	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:46657015G>A	uc003oyj.2	+	1	1150	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	TDRD6_uc010jze.2_Missense_Mutation_p.G378S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	384					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACTCTGGGACGGTGGGAGAGG	0.502													A	46657015	G	A	46657015	3	1	248	1	0	0	0	0	1	0	0	0	15731	1116	39	1	1152	1	TDRD6	6	46657015	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2280678	46657015	124458052	630	122637											
PKHD1	5314	broad.mit.edu	37	chr6	51524127	51524127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatggccaggcatctcGtgaataaacctgatttggtt	9	9	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:51524127G>A	uc003pah.1	-	61	11073	c.10797C>T	c.(10795-10797)CAC>CAT	p.H3599H		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3599	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAGGCATCTCGTGAATAAACC	0.408													A	51524127	G	A	51524127	2	1	248	1	0	0	0	0	0	0	0	1	11971	1136	40	1		1	PKHD1	6	51524127	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4867112	51524127	119590940	631	122638											
TRAM2	9697	broad.mit.edu	37	chr6	52372384	52372384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctatatgcaccaggTacaggcaaatatactggagc	9	11	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:52372384T>C	uc003paq.2	-	7	742	c.593A>G	c.(592-594)TAC>TGC	p.Y198C	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_5'Flank	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	198	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)					ATGCACCAGGTACAGGCAAAT	0.468													C	52372384	T	C	52372384	3	2	248	1	0	0	0	0	1	0	0	0	16450	1638	57	3	539	3	TRAM2	6	52372384	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	848257	52372384	118742683	632	122639											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039412	+	Frame_Shift_Ins	INS	-	-	C													ggcaccaaattggaggactcINSccccccttgtcgcaactggt					rs76774128		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:55039410_55039411T>TC	uc003pcl.3	+	0	340_341	c.25_26T>TC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		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)			ATTGGAGGACTCCCCCCCTTGT	0.564													C	55039412	-	C	55039411	7	5	248	1	0	1	1	0	0	0	0	0	7002	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	2667027	55039411	116075656	633	122640											
FAM135A	57579	broad.mit.edu	37	chr6	71186928	71186928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcactttagcccccaTagaggccttcatcatcatgt	7	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:71186928T>C	uc003pfj.2	+	6	568	c.435T>C	c.(433-435)CAT>CAC	p.H145H	FAM135A_uc003pfi.2_Silent_p.H145H|FAM135A_uc003pfh.2_Silent_p.H102H|FAM135A_uc003pfk.2_Silent_p.H145H|FAM135A_uc003pfl.2_Intron	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	145										central_nervous_system(1)	1						TTAGCCCCCATAGAGGCCTTC	0.413													C	71186928	T	C	71186928	2	2	248	1	0	0	0	0	0	0	0	1	5448	1403	49	3		3	FAM135A	6	71186928	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	16147517	71186928	99928139	634	122641											
B3GAT2	135152	broad.mit.edu	37	chr6	71665631	71665631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggtgcctctggcGcagccaggcgaggcccgcgt	17	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:71665631G>A	uc003pfv.2	-	1	1158	c.502C>T	c.(502-504)CGC>TGC	p.R168C	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R168C	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	168	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TGCCTCTGGCGCAGCCAGGCG	0.701													A	71665631	G	A	71665631	3	1	248	1	0	0	0	0	1	0	0	0	1254	1087	38	1	485	1	B3GAT2	6	71665631	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	478703	71665631	99449436	635	122642											
RIMS1	22999	broad.mit.edu	37	chr6	73107977	73107977	+	Frame_Shift_Del	DEL	A	A	-													tacaaataggaatggaggacAaaaagggccaattagaagtg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:73107977delA	uc003pga.2	+	32	4722	c.4645delA	c.(4645-4647)AAAfs	p.K1549fs	RIMS1_uc011dyb.1_Frame_Shift_Del_p.K946fs|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Frame_Shift_Del_p.K869fs|RIMS1_uc011dyc.1_Frame_Shift_Del_p.K674fs|RIMS1_uc010kar.2_Frame_Shift_Del_p.K617fs|RIMS1_uc011dyd.1_Frame_Shift_Del_p.K683fs|RIMS1_uc003pgf.2_Frame_Shift_Del_p.K549fs|RIMS1_uc003pgg.2_Frame_Shift_Del_p.K445fs|RIMS1_uc003pgi.2_Frame_Shift_Del_p.K365fs|RIMS1_uc003pgh.2_Frame_Shift_Del_p.K416fs|RIMS1_uc003pgd.2_Frame_Shift_Del_p.K615fs|RIMS1_uc003pge.2_Frame_Shift_Del_p.K589fs|RIMS1_uc011dye.1_Frame_Shift_Del_p.K355fs|RIMS1_uc011dyf.1_Frame_Shift_Del_p.K173fs|RIMS1_uc011dyg.1_Frame_Shift_Del_p.K76fs	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1549	C2 2.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATGGAGGACAAAAAGGGCCA	0.418													-	73107977	A	-	73107977	7	5	248	1	0	1	0	1	0	0	0	0	13367	131	5	0	4934	0	RIMS1	6	73107977	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	1442346	73107977	98007090	636	122643											
COL12A1	1303	broad.mit.edu	37	chr6	75798830	75798830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaacctacctggggggCcaggcagcccccgaggtcct	13	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:75798830C>T	uc003phs.2	-	64	9168	c.9002G>A	c.(9001-9003)GGC>GAC	p.G3001D	COL12A1_uc003pht.2_Missense_Mutation_p.G1837D	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3001	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACCTGGGGGGCCAGGCAGCCC	0.473													T	75798830	C	T	75798830	3	4	248	1	0	0	0	0	1	0	0	0	3669	739	26	2	201	2	COL12A1	6	75798830	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2690853	75798830	95316237	637	122644											
IBTK	25998	broad.mit.edu	37	chr6	82941506	82941506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtttgctattctggcttcCatgacccagggtaaaatttg	9	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:82941506C>T	uc003pjl.1	-	4	999	c.472G>A	c.(472-474)GGA>AGA	p.G158R	IBTK_uc011dyv.1_Missense_Mutation_p.G158R|IBTK_uc011dyw.1_Missense_Mutation_p.G158R|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.G158R	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	158	RCC1 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		TTCTGGCTTCCATGACCCAGG	0.308													T	82941506	C	T	82941506	3	4	248	1	0	0	0	0	1	0	0	0	7476	603	21	4	3693	4	IBTK	6	82941506	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7142676	82941506	88173561	638	122645											
DOPEY1	23033	broad.mit.edu	37	chr6	83868323	83868323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggagcaggaactcactgCtgatgaagatatttcacggt	12	7	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:83868323C>T	uc003pjs.1	+	36	7039	c.6779C>T	c.(6778-6780)GCT>GTT	p.A2260V	DOPEY1_uc011dyy.1_Missense_Mutation_p.A2251V|DOPEY1_uc010kbl.1_Missense_Mutation_p.A2251V|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2260					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		GAACTCACTGCTGATGAAGAT	0.284													T	83868323	C	T	83868323	3	4	248	1	0	0	0	0	1	0	0	0	4707	797	28	2	6913	2	DOPEY1	6	83868323	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	926817	83868323	87246744	639	122646											
ME1	4199	broad.mit.edu	37	chr6	83921764	83921764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgcttctttgttttgcGgttcaggataaactgtggct	10	7	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:83921764G>A	uc003pjy.2	-	14	1704	c.1598C>T	c.(1597-1599)CCG>CTG	p.P533L	ME1_uc011dzb.1_Missense_Mutation_p.P458L|ME1_uc011dzc.1_Missense_Mutation_p.P367L	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	533					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTTGTTTTGCGGTTCAGGATA	0.343													A	83921764	G	A	83921764	3	1	248	1	0	0	0	0	1	0	0	0	9417	1116	39	1	124	1	ME1	6	83921764	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	53441	83921764	87193303	640	122647											
ZNF292	23036	broad.mit.edu	37	chr6	87970973	87970974	+	Frame_Shift_Ins	INS	-	-	A													aaaaaaatgtctcacaaaatINSaaaaaaaggaaagttgaaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:87970973_87970974insA	uc003plm.3	+	8	7667_7668	c.7626_7627insA	c.(7624-7629)AATAAAfs	p.N2542fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2542_2543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		TCTCACAAAATAAAAAAAGGAA	0.356													A	87970974	-	A	87970973	7	5	248	1	0	1	1	0	0	0	0	0	17823	1403	49	0	7656	0	ZNF292	6	87970973	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	4049209	87970973	83144094	641	122648	634	2									
ZNF292	23036	broad.mit.edu	37	chr6	87970974	87970975	+	Frame_Shift_Ins	INS	-	-	A													aaaaaatgtctcacaaaataINSaaaaaaggaaagttgaaaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:87970973_87970974T>TA	uc003plm.4	+	7	7667_7668	c.7626_7627T>TA	c.(7624-7629)aataaafs	p.N2542fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2542					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)		TCTCACAAAATAAAAAAAGGAA	0.356													A	87970975	-	A	87970974	7	5	248	1	0	1	1	0	0	0	0	0	17823	363	13	0	7657	0	ZNF292	6	87970974	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	87970974	83144093	642	122649	634	2									
GABRR2	2570	broad.mit.edu	37	chr6	89967490	89967490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggtattctggaagatacGaaaacccgtctggcccttca	10	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:89967490G>A	uc003pnb.2	-	9	1380	c.1372C>T	c.(1372-1374)CGT>TGT	p.R458C	GABRR2_uc011dzx.1_Missense_Mutation_p.R334C	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	458	Cytoplasmic (Probable).				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				0		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)		TGGAAGATACGAAAACCCGTC	0.448													A	89967490	G	A	89967490	3	1	248	1	0	0	0	0	1	0	0	0	6177	1058	37	1	104	1	GABRR2	6	89967490	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1996516	89967490	81147577	643	122650											
MDN1	23195	broad.mit.edu	37	chr6	90428333	90428333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagcagcctcctccaaggtCgtataagatcaacctgtaat	7	12	1	1	rs143104857		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:90428333C>T	uc003pnn.1	-	43	6451	c.6335G>A	c.(6334-6336)CGA>CAA	p.R2112Q		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2112					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		CCTCCAAGGTCGTATAAGATC	0.463													T	90428333	C	T	90428333	3	4	248	1	0	0	0	0	1	0	0	0	9415	884	31	1	10695	1	MDN1	6	90428333	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	460843	90428333	80686734	644	122651											
MDN1	23195	broad.mit.edu	37	chr6	90428941	90428941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatccttgaatacagcaaTgacctaaaggaagaagataa	7	8	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:90428941T>C	uc003pnn.1	-	41	6087	c.5971A>G	c.(5971-5973)ATT>GTT	p.I1991V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1991					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		AATACAGCAATGACCTAAAGG	0.383													C	90428941	T	C	90428941	3	2	248	1	0	0	0	0	1	0	0	0	9415	1464	51	3	11067	3	MDN1	6	90428941	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	608	90428941	80686126	645	122652											
SIM1	6492	broad.mit.edu	37	chr6	100838916	100838916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcacctgattcactggccGacccagggtctggagaactg	13	12	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:100838916G>A	uc003pqj.3	-	11	1829	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	SIM1_uc010kcu.2_Missense_Mutation_p.S541L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	541	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		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)		TTCACTGGCCGACCCAGGGTC	0.443													A	100838916	G	A	100838916	3	1	248	1	0	0	0	0	1	0	0	0	14323	1059	37	1	682	1	SIM1	6	100838916	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	10409975	100838916	70276151	646	122653											
ASCC3	10973	broad.mit.edu	37	chr6	101246645	101246645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagctgagtggcattggttCgctgtagggaatccttactt	12	7	0	1	rs144432672		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:101246645C>T	uc003pqk.2	-	8	1668	c.1339G>A	c.(1339-1341)GAA>AAA	p.E447K	ASCC3_uc011eai.1_Missense_Mutation_p.E349K|ASCC3_uc003pql.2_Missense_Mutation_p.E447K	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		GGCATTGGTTCGCTGTAGGGA	0.363													T	101246645	C	T	101246645	3	4	248	1	0	0	0	0	1	0	0	0	1033	893	31	1	5409	1	ASCC3	6	101246645	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	407729	101246645	69868422	647	122654											
GPR6	2830	broad.mit.edu	37	chr6	110301081	110301081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtggtctggcgccacGcgcaccagatcgcgctgcag	15	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:110301081G>A	uc011eaw.1	+	2	946	c.766G>A	c.(766-768)GCG>ACG	p.A256T	GPR6_uc011eav.1_Missense_Mutation_p.A271T|GPR6_uc003ptu.2_Missense_Mutation_p.A256T	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	256	Cytoplasmic (Potential).					integral to plasma membrane					0		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)		CTGGCGCCACGCGCACCAGAT	0.662													A	110301081	G	A	110301081	3	1	248	1	0	0	0	0	1	0	0	0	6701	1087	38	1	768	1	GPR6	6	110301081	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9054436	110301081	60813986	648	122655											
GOPC	57120	broad.mit.edu	37	chr6	117890792	117890792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccttaggttaactccGttgactgccaaaatagcatc	8	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:117890792G>A	uc003pxu.2	-	7	1250	c.1020C>T	c.(1018-1020)AAC>AAT	p.N340N	GOPC_uc003pxq.1_Silent_p.N113N|DCBLD1_uc003pxs.2_3'UTR|GOPC_uc003pxv.2_Silent_p.N332N	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	340	PDZ.				apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		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)		GGTTAACTCCGTTGACTGCCA	0.448			O	ROS1	glioblastoma								A	117890792	G	A	117890792	2	1	248	1	0	0	0	0	0	0	0	1	6573	1136	40	1		1	GOPC	6	117890792	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7589711	117890792	53224275	649	122656											
C6orf170	221322	broad.mit.edu	37	chr6	121577347	121577347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctcctttaaccacaggCaacatttctgatccagaaaa	5	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:121577347C>T	uc003pyo.1	-	16	1886	c.1818G>A	c.(1816-1818)TTG>TTA	p.L606L	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.L125L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	606					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TAACCACAGGCAACATTTCTG	0.343													T	121577347	C	T	121577347	2	4	248	1	0	0	0	0	0	0	0	1	2344	709	25	2		2	C6orf170	6	121577347	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3686555	121577347	49537720	650	122657											
TMEM200A	114801	broad.mit.edu	37	chr6	130761695	130761695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagcccatcaggcgccGgccccgggcagatgttgtgg	16	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:130761695G>A	uc003qca.2	+	3	999	c.128G>A	c.(127-129)CGG>CAG	p.R43Q	TMEM200A_uc010kfh.2_Missense_Mutation_p.R43Q|TMEM200A_uc010kfi.2_Missense_Mutation_p.R43Q|TMEM200A_uc003qcb.2_Missense_Mutation_p.R43Q	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	43	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATCAGGCGCCGGCCCCGGGCA	0.522													A	130761695	G	A	130761695	3	1	248	1	0	0	0	0	1	0	0	0	16120	1116	39	1	130	1	TMEM200A	6	130761695	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9184348	130761695	40353372	651	122658											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919847	+	Frame_Shift_Ins	INS	-	-	T													cctatactcctcctccacatINStttttttcagattaaaacgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:131919845_131919846A>AT	uc003qcs.1	-	18	2450_2451	c.2276_2277T>AT	c.(2275-2277)aatfs	p.N759fs	MED23_uc003qcq.3_Frame_Shift_Ins_p.N765fs|MED23_uc011eca.1_Frame_Shift_Ins_p.N400fs|MED23_uc003qct.1_Frame_Shift_Ins_p.N765fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	759					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.N759fs*7(2)|p.N765fs*7(1)		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)		CCTCCTCCACATTTTTTTTCAG	0.381													T	131919847	-	T	131919846	7	5	248	1	0	1	1	0	0	0	0	0	9441	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1158151	131919846	39195221	652	122659											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239565	135239565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagatcagtgtttaacGgtgatggttttgatctcagt	11	5	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:135239565G>A	uc003qew.2	-	7	1505	c.1452C>T	c.(1450-1452)ACC>ACT	p.T484T	ALDH8A1_uc003qex.2_Silent_p.T430T|ALDH8A1_uc010kgh.2_Silent_p.T262T|ALDH8A1_uc011ecx.1_Silent_p.T434T	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	484					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGTGTTTAACGGTGATGGTTT	0.473													A	135239565	G	A	135239565	2	1	248	1	0	0	0	0	0	0	0	1	505	1103	39	1		1	ALDH8A1	6	135239565	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3319719	135239565	35875502	653	122660											
TNFAIP3	7128	broad.mit.edu	37	chr6	138192545	138192545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagttttgtcctcagtttCgggagatcatccacaaagcc	9	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:138192545C>T	uc003qhr.2	+	2	247	c.181C>T	c.(181-183)CGG>TGG	p.R61W	TNFAIP3_uc003qhs.2_Missense_Mutation_p.R61W	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	61	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?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCCTCAGTTTCGGGAGATCAT	0.453			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								T	138192545	C	T	138192545	3	4	248	1	0	0	0	0	1	0	0	0	16271	875	31	1	183	1	TNFAIP3	6	138192545	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2952980	138192545	32922522	654	122661											
KIAA1244	57221	broad.mit.edu	37	chr6	138531123	138531123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcaatcagatactgaAtgccgtgaaagtgacgcctt	10	10	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:138531123A>G	uc003qhu.2	+	4	296	c.296A>G	c.(295-297)AAT>AGT	p.N99S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	99					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGATACTGAATGCCGTGAAA	0.502													G	138531123	A	G	138531123	3	3	248	1	0	0	0	0	1	0	0	0	8217	101	4	3	310	3	KIAA1244	6	138531123	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	338578	138531123	32583944	655	122662											
UTRN	7402	broad.mit.edu	37	chr6	144783875	144783875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggagaaaaatgttcatcCtgatgtagaaaaattatata	7	4	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:144783875C>A	uc003qkt.2	+	22	3031	c.2939C>A	c.(2938-2940)CCT>CAT	p.P980H	UTRN_uc010khq.1_Missense_Mutation_p.P980H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	980					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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATGTTCATCCTGATGTAGAA	0.353													A	144783875	C	A	144783875	3	1	248	1	0	0	0	0	1	0	0	0	17100	681	24	5	3025	5	UTRN	6	144783875	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6252752	144783875	26331192	656	122663											
EPM2A	7957	broad.mit.edu	37	chr6	145948786	145948786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtcccttctccagcagCgcatgcagcaggcacaccgc	10	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:145948786C>T	uc003qkw.2	-	4	1119	c.762G>A	c.(760-762)GCG>GCA	p.A254A	EPM2A_uc003qkv.2_Silent_p.A254A|EPM2A_uc010khr.2_Missense_Mutation_p.A174T|EPM2A_uc003qkx.2_Silent_p.A116A|EPM2A_uc003qku.2_Silent_p.A100A	NM_005670	NP_005661	O95278	EPM2A_HUMAN	laforin isoform a	254	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TCTCCAGCAGCGCATGCAGCA	0.627													T	145948786	C	T	145948786	2	4	248	1	0	0	0	0	0	0	0	1	5183	755	27	1		1	EPM2A	6	145948786	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1164911	145948786	25166281	657	122664											
SASH1	23328	broad.mit.edu	37	chr6	148840851	148840852	+	Frame_Shift_Ins	INS	-	-	G													tccagcagcctggacacctgINSgggggctggccggaagttgg					rs140465347		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:148840850_148840851T>TG	uc003qme.1	+	9	1505_1506	c.1030_1031T>TG	c.(1030-1032)tggfs	p.W344fs	SASH1_uc011eeb.1_Frame_Shift_Ins_p.W105fs	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	344							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)		CCTGGACACCTGGGGGGCTGGC	0.559													G	148840852	-	G	148840851	7	5	248	1	0	1	1	0	0	0	0	0	13848	1357	47	0	1069	0	SASH1	6	148840851	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	2892065	148840851	22274216	658	122665											
ZC3H12D	340152	broad.mit.edu	37	chr6	149795589	149795589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgtcgttgaccagggCgccctcgcccagcttgccca	11	18	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:149795589C>T	uc003qmn.1	-	1	161	c.91G>A	c.(91-93)GCC>ACC	p.A31T	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Missense_Mutation_p.A31T|ZC3H12D_uc010kid.2_Missense_Mutation_p.A31T	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	31						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TTGACCAGGGCGCCCTCGCCC	0.672													T	149795589	C	T	149795589	3	4	248	1	0	0	0	0	1	0	0	0	17561	768	27	1	1512	1	ZC3H12D	6	149795589	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	954738	149795589	21319478	659	122666											
LATS1	9113	broad.mit.edu	37	chr6	150005721	150005721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcggttaactgattgctgCacattccctatggttataag	9	8	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:150005721C>T	uc003qmu.1	-	4	1052	c.504G>A	c.(502-504)GTG>GTA	p.V168V	LATS1_uc010kif.1_Silent_p.V63V|LATS1_uc003qmv.1_Silent_p.V168V|LATS1_uc003qmw.2_Silent_p.V168V|LATS1_uc010kig.1_Silent_p.V63V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	168					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTGATTGCTGCACATTCCCTA	0.383													T	150005721	C	T	150005721	2	4	248	1	0	0	0	0	0	0	0	1	8646	697	25	2		2	LATS1	6	150005721	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	210132	150005721	21109346	660	122667											
ESR1	2099	broad.mit.edu	37	chr6	152419910	152419910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcatgaagtgcaagaacGtggtgcccctctatgacctg	11	11	1	3	rs138961142		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:152419910G>A	uc003qom.3	+	10	1967	c.1597G>A	c.(1597-1599)GTG>ATG	p.V533M	ESR1_uc010kin.2_Missense_Mutation_p.V533M|ESR1_uc010kio.2_Missense_Mutation_p.V535M|ESR1_uc010kip.2_Missense_Mutation_p.V532M|ESR1_uc003qon.3_Missense_Mutation_p.V533M|ESR1_uc003qoo.3_Missense_Mutation_p.V533M|ESR1_uc010kiq.2_Missense_Mutation_p.V131M|ESR1_uc010kir.2_Missense_Mutation_p.V272M|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.V118M|ESR1_uc011eew.1_3'UTR|ESR1_uc011eex.1_Missense_Mutation_p.V208M|ESR1_uc011eey.1_3'UTR	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	533	Steroid-binding.|Interaction with AKAP13.				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			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		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)	GTGCAAGAACGTGGTGCCCCT	0.577													A	152419910	G	A	152419910	3	1	248	1	0	0	0	0	1	0	0	0	5256	1145	40	1	1627	1	ESR1	6	152419910	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2414189	152419910	18695157	661	122668											
RGS17	26575	broad.mit.edu	37	chr6	153347643	153347643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtgtgtgggtcttcccGcattttcccctctttcttca	8	12	4	0	rs34438717		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:153347643G>A	uc003qpm.2	-	3	311	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	52					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GGGTCTTCCCGCATTTTCCCC	0.388									Lung_Cancer_Familial_Clustering_of				A	153347643	G	A	153347643	3	1	248	1	0	0	0	0	1	0	0	0	13299	1087	38	1	489	1	RGS17	6	153347643	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	927733	153347643	17767424	662	122669											
OPRM1	4988	broad.mit.edu	37	chr6	154411221	154411221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttagatttccgtactccccGaaatgccaaaattatcaatg	5	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:154411221G>A	uc003qpr.2	+	2	788	c.551G>A	c.(550-552)CGA>CAA	p.R184Q	OPRM1_uc011efb.1_Missense_Mutation_p.R232Q|OPRM1_uc011efc.1_Missense_Mutation_p.R103Q|OPRM1_uc011efd.1_Missense_Mutation_p.R84Q|OPRM1_uc011efe.1_Missense_Mutation_p.R277Q|OPRM1_uc003qpn.2_Missense_Mutation_p.R184Q|OPRM1_uc003qpo.1_Missense_Mutation_p.R184Q|OPRM1_uc011eff.1_Missense_Mutation_p.R184Q|OPRM1_uc011efg.1_Missense_Mutation_p.R184Q|OPRM1_uc011efh.1_Missense_Mutation_p.R184Q|OPRM1_uc003qpq.1_Missense_Mutation_p.R184Q|OPRM1_uc003qpt.1_Missense_Mutation_p.R184Q|OPRM1_uc011efi.1_Missense_Mutation_p.R184Q|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R84Q|OPRM1_uc003qpu.2_Missense_Mutation_p.R84Q	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	184	Cytoplasmic (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		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)	CGTACTCCCCGAAATGCCAAA	0.448													A	154411221	G	A	154411221	3	1	248	1	0	0	0	0	1	0	0	0	10887	1058	37	1	891	1	OPRM1	6	154411221	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1063578	154411221	16703846	663	122670											
ARID1B	57492	broad.mit.edu	37	chr6	157528937	157528937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttttgcacgagggccGgttgctggatatctcgatat	11	9	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:157528937G>A	uc003qqn.2	+	20	6760	c.6608G>A	c.(6607-6609)CGG>CAG	p.R2203Q	ARID1B_uc003qqo.2_Missense_Mutation_p.R2163Q|ARID1B_uc003qqp.2_Missense_Mutation_p.R2150Q	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2208					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CACGAGGGCCGGTTGCTGGAT	0.507													A	157528937	G	A	157528937	3	1	248	1	0	0	0	0	1	0	0	0	914	1116	39	1	6740	1	ARID1B	6	157528937	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3117716	157528937	13586130	664	122671											
EZR	7430	broad.mit.edu	37	chr6	159188494	159188494	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggggtgctgtcatcacCaggtgcagctcctccttggt	15	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:159188494C>A	uc003qrt.3	-	12	1610	c.1395G>T	c.(1393-1395)CTG>CTT	p.L465L	EZR_uc011efr.1_Silent_p.L72L|EZR_uc011efs.1_Silent_p.L433L|EZR_uc003qru.3_Silent_p.L465L	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	465	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			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTGTCATCACCAGGTGCAGCT	0.587													A	159188494	C	A	159188494	2	1	248	1	0	0	0	0	0	0	0	1	5335	581	21	5		5	EZR	6	159188494	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1659557	159188494	11926573	665	122672											
IGF2R	3482	broad.mit.edu	37	chr6	160490923	160490923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccctccagaagcagccGcgtgtctgctgggtggctcc	14	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:160490923G>A	uc003qta.2	+	31	4424	c.4276G>A	c.(4276-4278)GCG>ACG	p.A1426T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1426	10.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGAAGCAGCCGCGTGTCTGCT	0.547													A	160490923	G	A	160490923	3	1	248	1	0	0	0	0	1	0	0	0	7576	1087	38	1	4398	1	IGF2R	6	160490923	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1302429	160490923	10624144	666	122673											
PACRG	135138	broad.mit.edu	37	chr6	163735880	163735880	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaactccggagacggcattgActacagccagcagaagaggg	14	10	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:163735880A>T	uc003qua.2	+	7	976	c.752A>T	c.(751-753)GAC>GTC	p.D251V	PACRG_uc003qub.2_Missense_Mutation_p.D212V|PACRG_uc003quc.2_Missense_Mutation_p.D212V|LOC285796_uc011egh.1_Intron	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	251											0		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)		GACGGCATTGACTACAGCCAG	0.493													T	163735880	A	T	163735880	3	4	248	1	0	0	0	0	1	0	0	0	11370	275	10	5	774	5	PACRG	6	163735880	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3244957	163735880	7379187	667	122674											
T	6862	broad.mit.edu	37	chr6	166580169	166580169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccccgaagttgggcgagtCggggtggatgtagacgcagc	19	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:166580169C>T	uc003quu.1	-	3	875	c.382G>A	c.(382-384)GAC>AAC	p.D128N	T_uc003qut.1_Missense_Mutation_p.D128N|T_uc003quv.1_Missense_Mutation_p.D128N	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	128	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		TTGGGCGAGTCGGGGTGGATG	0.657									Chordoma_Familial_Clustering_of				T	166580169	C	T	166580169	3	4	248	1	0	0	0	0	1	0	0	0	15485	884	31	1	953	1	T	6	166580169	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2844289	166580169	4534898	668	122675											
FRMD1	79981	broad.mit.edu	37	chr6	168462556	168462556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggagctggtggctggCgcgcagcaggtgcagcaggt	21	8	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:168462556C>T	uc003qwo.3	-	8	1041	c.976G>A	c.(976-978)GCC>ACC	p.A326T	FRMD1_uc003qwm.3_Missense_Mutation_p.A120T|FRMD1_uc011egs.1_Missense_Mutation_p.A97T|FRMD1_uc011egt.1_Missense_Mutation_p.A261T|FRMD1_uc003qwn.3_Missense_Mutation_p.A258T	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	326	FERM.					cytoskeleton	binding			ovary(1)	1		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)		TGGTGGCTGGCGCGCAGCAGG	0.687													T	168462556	C	T	168462556	3	4	248	1	0	0	0	0	1	0	0	0	6049	768	27	1	689	1	FRMD1	6	168462556	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1882387	168462556	2652511	669	122676											
FAM120B	84498	broad.mit.edu	37	chr6	170627989	170627989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatgtgtacaggccatgaatCcaaacaggaagttcccatat	8	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:170627989C>A	uc003qxp.2	+	2	1619	c.1511C>A	c.(1510-1512)TCC>TAC	p.S504Y	FAM120B_uc003qxo.1_Missense_Mutation_p.S504Y|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	504					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GGCCATGAATCCAAACAGGAA	0.413													A	170627989	C	A	170627989	3	1	248	1	0	0	0	0	1	0	0	0	5417	855	30	5	1513	5	FAM120B	6	170627989	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2165433	170627989	487078	670	122677											
TBP	6908	broad.mit.edu	37	chr6	170870995	170870996	+	In_Frame_Ins	INS	-	-	GCA													ttttggaagagcaacaaaggINScagcagcagcaacaacaaca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:170870994_170870995G>GGCA	uc003qxu.3	+	2	449_450	c.170_171G>GGCA	c.(169-171)agg>aGGCA	p.R57R	TBP_uc011ehf.2_In_Frame_Ins_p.R37R|TBP_uc003qxt.3_In_Frame_Ins_p.R57R|TBP_uc011ehg.1_In_Frame_Ins_p.R57R	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	57	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)		GAGCAACAAAGgcagcagcagc	0.535													GCA	170870996	-	GCA	170870995	7	5	248	1	0	1	1	0	0	0	0	0	15641	1194	42	0	177	0	TBP	6	170870995	In_Frame_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	243006	170870995	244072	671	122678											
TBP	6908	broad.mit.edu	37	chr6	170871007	170871007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaaaggcagcagcagcaAcaacaacagcagcagcagca	9	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:170871007A>G	uc003qxt.2	+	3	415	c.183A>G	c.(181-183)CAA>CAG	p.Q61Q	TBP_uc003qxu.2_Silent_p.Q61Q|TBP_uc011ehf.1_Silent_p.Q41Q|TBP_uc011ehg.1_Silent_p.Q61Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	61	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			ovary(1)	1		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)		agcagcagcaacaacaacagc	0.194													G	170871007	A	G	170871007	2	3	248	1	0	0	0	0	0	0	0	1	15641	40	2	3		3	TBP	6	170871007	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	12	170871007	244060	672	122679											
GET4	51608	broad.mit.edu	37	chr7	933385	933385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtcccagtgggaagcTgacggtgttcactgtgctgt	13	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:933385T>C	uc003sjl.1	+	7	847	c.755T>C	c.(754-756)CTG>CCG	p.L252P	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	252					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						AGTGGGAAGCTGACGGTGTTC	0.622													C	933385	T	C	933385	3	2	248	1	0	0	0	0	1	0	0	0	6336	1580	55	3	781	3	GET4	7	933385	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08		933385	158205278	673	122680											
MAD1L1	8379	broad.mit.edu	37	chr7	1976414	1976414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatggcgcgcaggagcccGcgcagtcgctcgcactccgc	13	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:1976414G>A	uc003slh.1	-	17	1982	c.1716C>T	c.(1714-1716)CGC>CGT	p.R572R	MAD1L1_uc003sle.1_Silent_p.R301R|MAD1L1_uc003slf.1_Silent_p.R572R|MAD1L1_uc003slg.1_Silent_p.R572R|MAD1L1_uc010ksh.1_Silent_p.R572R|MAD1L1_uc003sli.1_Silent_p.R480R|MAD1L1_uc010ksi.1_Silent_p.R525R|MAD1L1_uc010ksj.2_Silent_p.R572R|MAD1L1_uc003sld.1_Silent_p.R28R	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	572	Potential.				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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGAGCCCGCGCAGTCGCT	0.692													A	1976414	G	A	1976414	2	1	248	1	0	0	0	0	0	0	0	1	9147	1074	38	1		1	MAD1L1	7	1976414	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1043029	1976414	157162249	674	122681											
SDK1	221935	broad.mit.edu	37	chr7	4152942	4152942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgaatgaagcaagtgaaCattgttgggccgagccccta	11	9	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:4152942C>T	uc003smx.2	+	24	3595	c.3456C>T	c.(3454-3456)AAC>AAT	p.N1152N	SDK1_uc010kso.2_Silent_p.N428N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1152	Fibronectin type-III 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		AGCAAGTGAACATTGTTGGGC	0.542													T	4152942	C	T	4152942	2	4	248	1	0	0	0	0	0	0	0	1	13968	477	17	4		4	SDK1	7	4152942	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2176528	4152942	154985721	675	122682											
RBAK	57786	broad.mit.edu	37	chr7	5103477	5103477	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaagccttgttccttcAagcataatagctcataattg	6	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:5103477A>G	uc010kss.1	+	6	714	c.390A>G	c.(388-390)TCA>TCG	p.S130S	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.S130S	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	130					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TTGTTCCTTCAAGCATAATAG	0.353													G	5103477	A	G	5103477	2	3	248	1	0	0	0	0	0	0	0	1	13100	117	5	3		3	RBAK	7	5103477	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	950535	5103477	154035186	676	122683											
ZNF12	7559	broad.mit.edu	37	chr7	6730955	6730955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcctttgtgtattctccGatgtctacaaagggctgagt	9	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:6730955G>A	uc003sqt.1	-	5	2172	c.1618C>T	c.(1618-1620)CGG>TGG	p.R540W	ZNF12_uc011jxa.1_Missense_Mutation_p.R378W|ZNF12_uc003sqs.1_Missense_Mutation_p.R502W	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	540	C2H2-type 10.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTATTCTCCGATGTCTACAA	0.388													A	6730955	G	A	6730955	3	1	248	1	0	0	0	0	1	0	0	0	17715	1057	37	1	479	1	ZNF12	7	6730955	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1627478	6730955	152407708	677	122684											
PHF14	9678	broad.mit.edu	37	chr7	11030400	11030400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatattctgatttgctgtgTttgtctgggagataatagtg	11	5	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:11030400T>C	uc003sry.1	+	4	1406	c.971T>C	c.(970-972)GTT>GCT	p.V324A	PHF14_uc011jxi.1_Missense_Mutation_p.V39A|PHF14_uc003srz.2_Missense_Mutation_p.V324A|PHF14_uc011jxj.1_Missense_Mutation_p.V39A	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	324	PHD-type 1.						zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ATTTGCTGTGTTTGTCTGGGA	0.353													C	11030400	T	C	11030400	3	2	248	1	0	0	0	0	1	0	0	0	11825	1725	60	3	985	3	PHF14	7	11030400	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	4299445	11030400	148108263	678	122685											
DGKB	1607	broad.mit.edu	37	chr7	14880850	14880850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaagttgggaaaattcCgaagggctgaggtgggccca	15	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:14880850C>T	uc003ssz.2	-	1	226	c.39G>A	c.(37-39)TCG>TCA	p.S13S	DGKB_uc011jxt.1_Silent_p.S13S|DGKB_uc003sta.2_Silent_p.S13S|DGKB_uc011jxu.1_Silent_p.S13S|DGKB_uc011jxv.1_Silent_p.S13S	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	13					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			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	GGGAAAATTCCGAAGGGCTGA	0.378													T	14880850	C	T	14880850	2	4	248	1	0	0	0	0	0	0	0	1	4466	639	23	1		1	DGKB	7	14880850	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3850450	14880850	144257813	679	122686											
DNAH11	8701	broad.mit.edu	37	chr7	21631141	21631141	+	Frame_Shift_Del	DEL	A	A	-													gacaagggtgatttgtttacAaaaaaatacaagttaatcca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:21631140_21631140CA>C	uc003svc.3	+	13	2643	c.2612_2612CA>C	c.(2611-2613)acafs	p.T871fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	871	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						GATTTGTTTACAAAAAAATAC	0.473									Kartagener syndrome				-	21631141	A	-	21631141	7	5	248	1	0	1	0	1	0	0	0	0	4599	117	5	0	2667	0	DNAH11	7	21631141	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	6750291	21631141	137507522	680	122687											
DNAH11	8701	broad.mit.edu	37	chr7	21805143	21805143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctattgactggtttcatgCgtggccgcaggaggctctgg	16	9	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:21805143C>T	uc003svc.2	+	56	9090	c.9059C>T	c.(9058-9060)GCG>GTG	p.A3020V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3020	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGGTTTCATGCGTGGCCGCAG	0.493									Kartagener_syndrome				T	21805143	C	T	21805143	3	4	248	1	0	0	0	0	1	0	0	0	4599	768	27	1	9278	1	DNAH11	7	21805143	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	174002	21805143	137333520	681	122688											
CDCA7L	55536	broad.mit.edu	37	chr7	21947920	21947920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcattctgtaagcgtGcgctagaaaacaactgctcg	8	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:21947920G>A	uc010kuk.2	-	4	629	c.509C>T	c.(508-510)GCA>GTA	p.A170V	CDCA7L_uc003sve.3_Missense_Mutation_p.A136V|CDCA7L_uc010kul.2_Missense_Mutation_p.A124V|CDCA7L_uc003svf.3_Missense_Mutation_p.A169V|CDCA7L_uc011jyk.1_Missense_Mutation_p.A170V	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	170					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CTGTAAGCGTGCGCTAGAAAA	0.418													A	21947920	G	A	21947920	3	1	248	1	0	0	0	0	1	0	0	0	3091	1319	46	2	883	2	CDCA7L	7	21947920	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	142777	21947920	137190743	682	122689											
IGF2BP3	10643	broad.mit.edu	37	chr7	23385596	23385596	+	Frame_Shift_Del	DEL	T	T	-													agtgtctgtgtcttgctcaaTttttttaagatttcttcctt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:23385596delT	uc003swg.2	-	8	1170	c.904delA	c.(904-906)ATTfs	p.I302fs	IGF2BP3_uc003swf.2_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	302	KH 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			ovary(2)	2						TCTTGCTCAATTTTTTTAAGA	0.353													-	23385596	T	-	23385596	7	5	248	1	0	1	0	1	0	0	0	0	7575	1493	52	0	867	0	IGF2BP3	7	23385596	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1437676	23385596	135753067	683	122690											
MPP6	51678	broad.mit.edu	37	chr7	24705666	24705667	+	Frame_Shift_Ins	INS	-	-	A													ttgtggaactataagtagcaINSaaaaaaagaaaaagatgatg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:24705665_24705666C>CA	uc003swx.3	+	8	1208_1209	c.909_910C>CA	c.(907-912)agcaaafs	p.S303fs	MPP6_uc003swy.3_Frame_Shift_Ins_p.S303fs	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	303					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302													A	24705667	-	A	24705666	7	5	248	1	0	1	1	0	0	0	0	0	9738	131	5	0	936	0	MPP6	7	24705666	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1320070	24705666	134432997	684	122691											
DFNA5	1687	broad.mit.edu	37	chr7	24784283	24784283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgccccccaggttcAgcttgaccttccccagtgca	10	17	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:24784283A>G	uc010kus.1	-	3	390	c.302T>C	c.(301-303)CTG>CCG	p.L101P	DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.L101P|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.L101P|DFNA5_uc003sxc.2_Missense_Mutation_p.L101P	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	101					sensory perception of sound					ovary(1)	1						CCCCAGGTTCAGCTTGACCTT	0.562													G	24784283	A	G	24784283	3	3	248	1	0	0	0	0	1	0	0	0	4454	188	7	3	1220	3	DFNA5	7	24784283	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	78617	24784283	134354380	685	122692											
HOXA3	3200	broad.mit.edu	37	chr7	27149901	27149901	+	Frame_Shift_Del	DEL	G	G	-													gggaggcagaagagggaggcGggggcgcggcaggggtaggt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27149901delG	uc011jzl.1	-	2	559	c.359delC	c.(358-360)CCGfs	p.P120fs	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Frame_Shift_Del_p.P120fs	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						AGAGggaggcgggggcgcggc	0.299													-	27149901	G	-	27149901	7	5	248	1	0	1	0	1	0	0	0	0	7293	1116	39	0	980	0	HOXA3	7	27149901	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	2365618	27149901	131988762	686	122693											
HOXA6	3203	broad.mit.edu	37	chr7	27185490	27185490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccagtgtctggtagcgCgtgtaggtctggcggcctcg	16	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27185490C>T	uc003syo.1	-	2	489	c.489G>A	c.(487-489)ACG>ACA	p.T163T	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	163	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TCTGGTAGCGCGTGTAGGTCT	0.662													T	27185490	C	T	27185490	2	4	248	1	0	0	0	0	0	0	0	1	7296	755	27	1		1	HOXA6	7	27185490	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	35589	27185490	131953173	687	122694											
HOXA7	3204	broad.mit.edu	37	chr7	27196039	27196039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgaaggcgccggcgccCgccccgtagccgcttctctg	15	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27196039C>T	uc003sys.2	-	1	258	c.126G>A	c.(124-126)GCG>GCA	p.A42A		NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	42					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				0						CGCCGGCGCCCGCCCCGTAGC	0.612													T	27196039	C	T	27196039	2	4	248	1	0	0	0	0	0	0	0	1	7297	639	23	1		1	HOXA7	7	27196039	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10549	27196039	131942624	688	122695											
TAX1BP1	8887	broad.mit.edu	37	chr7	27805503	27805503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatcagttctgttacgttAcccataagggtgaaattcgt	8	7	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27805503A>G	uc003szl.2	+	4	474	c.316A>G	c.(316-318)ACC>GCC	p.T106A	TAX1BP1_uc011jzo.1_Missense_Mutation_p.T106A|TAX1BP1_uc003szk.2_Missense_Mutation_p.T106A|TAX1BP1_uc011jzp.1_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	106					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)	1			GBM - Glioblastoma multiforme(3;0.0823)			CTGTTACGTTACCCATAAGGG	0.353													G	27805503	A	G	27805503	3	3	248	1	0	0	0	0	1	0	0	0	15591	391	14	3	326	3	TAX1BP1	7	27805503	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	609464	27805503	131333160	689	122696											
SFRP4	6424	broad.mit.edu	37	chr7	37955852	37955852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttggcacaccgacttgcaCggcttgatagggtcgtgcag	14	11	0	1	rs143563677		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:37955852C>T	uc003tfo.3	-	1	674	c.288G>A	c.(286-288)CCG>CCA	p.P96P		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	96	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			lung(1)	1						CCGACTTGCACGGCTTGATAG	0.632													T	37955852	C	T	37955852	2	4	248	1	0	0	0	0	0	0	0	1	14163	523	19	1		1	SFRP4	7	37955852	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10150349	37955852	121182811	690	122697											
GLI3	2737	broad.mit.edu	37	chr7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-													ccgcggacgtggccatcgccGgggggttgcagctgctgagg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:42005572_42005572CG>C	uc011kbh.2	-	14	3190	c.3099_3099CG>G	c.(3097-3099)ccgfs	p.P1033fs	GLI3_uc011kbg.2_Frame_Shift_Del_p.P974fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1033					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						TGGCCATCGCCGGGGGGTTGC	0.701									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				-	42005573	G	-	42005573	7	5	248	1	0	1	0	1	0	0	0	0	6439	1116	39	0	1648	0	GLI3	7	42005573	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	4049721	42005573	117133090	691	122698											
GLI3	2737	broad.mit.edu	37	chr7	42005961	42005961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcttcgctggagcggcGcgaggcgtcggtggagatgg	21	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:42005961G>A	uc011kbh.1	-	15	2801	c.2710C>T	c.(2710-2712)CGC>TGC	p.R904C	GLI3_uc011kbg.1_Missense_Mutation_p.R845C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	904					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGGAGCGGCGCGAGGCGTCG	0.721									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005961	G	A	42005961	3	1	248	1	0	0	0	0	1	0	0	0	6439	1087	38	1	2036	1	GLI3	7	42005961	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	388	42005961	117132702	692	122699											
HECW1	23072	broad.mit.edu	37	chr7	43508671	43508671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcggctggaactgccccgGggctgggagatcaaaacgga	15	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:43508671G>A	uc003tid.1	+	16	3671	c.3066G>A	c.(3064-3066)CGG>CGA	p.R1022R	HECW1_uc011kbi.1_Silent_p.R988R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1022	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						AACTGCCCCGGGGCTGGGAGA	0.567													A	43508671	G	A	43508671	2	1	248	1	0	0	0	0	0	0	0	1	7042	1219	43	4		4	HECW1	7	43508671	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1502710	43508671	115629992	693	122700											
URGCP	55665	broad.mit.edu	37	chr7	43917152	43917152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaacgcctctggcctgccGgcagcctccctgcctccaca	8	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:43917152G>T	uc003tiw.2	-	6	1967	c.1910C>A	c.(1909-1911)CCG>CAG	p.P637Q	URGCP_uc003tiu.2_Missense_Mutation_p.P594Q|URGCP_uc003tiv.2_Missense_Mutation_p.P562Q|URGCP_uc003tix.2_Missense_Mutation_p.P628Q|URGCP_uc003tiy.2_Missense_Mutation_p.P594Q|URGCP_uc003tiz.2_Missense_Mutation_p.P594Q|URGCP_uc011kbj.1_Missense_Mutation_p.P594Q	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	637					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CTGGCCTGCCGGCAGCCTCCC	0.627													T	43917152	G	T	43917152	3	4	248	1	0	0	0	0	1	0	0	0	17023	1116	39	5	889	5	URGCP	7	43917152	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	408481	43917152	115221511	694	122701											
ADCY1	107	broad.mit.edu	37	chr7	45650044	45650044	+	Frame_Shift_Del	DEL	C	C	-													tgaaggaggacttcctgaagCcccctgagaggattttccac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:45650044delC	uc003tne.3	+	3	874	c.856delC	c.(856-858)CCCfs	p.P286fs	ADCY1_uc003tnd.2_Frame_Shift_Del_p.P61fs	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	286	Cytoplasmic (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTCCTGAAGCCCCCTGAGAG	0.597													-	45650044	C	-	45650044	7	5	248	1	0	1	0	1	0	0	0	0	292	739	26	0	866	0	ADCY1	7	45650044	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	1732892	45650044	113488619	695	122702											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	8	15	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:55221711G>A	uc003tqk.2	+	7	1001	c.755G>A	c.(754-756)CGC>CAC	p.R252H	EGFR_uc003tqh.2_Missense_Mutation_p.R252H|EGFR_uc003tqi.2_Missense_Mutation_p.R252H|EGFR_uc003tqj.2_Missense_Mutation_p.R252H|EGFR_uc010kzg.1_Missense_Mutation_p.R207H|EGFR_uc011kco.1_Missense_Mutation_p.R199H|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	252	Approximate.|Extracellular (Potential).				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.V30_R297>G(5)|p.R252C(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	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)	TAGGTCTGCCGCAAATTCCGA	0.587		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221711	G	A	55221711	3	1	248	1	0	0	0	0	1	0	0	0	4967	1087	38	1	781	1	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9571667	55221711	103916952	696	122703											
PHKG1	5260	broad.mit.edu	37	chr7	56150999	56150999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcccggctccagctgGcaggaaaagccaaagtctgt	10	14	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:56150999G>A	uc003trz.1	-	6	714	c.519C>T	c.(517-519)TGC>TGT	p.C173C	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Silent_p.C67C|PHKG1_uc011kdb.1_Silent_p.C205C|PHKG1_uc011kdc.1_Silent_p.C164C|PHKG1_uc011kdd.1_Silent_p.C119C	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	173	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTCCAGCTGGCAGGAAAAGC	0.547													A	56150999	G	A	56150999	2	1	248	1	0	0	0	0	0	0	0	1	11846	1195	42	2		2	PHKG1	7	56150999	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	929288	56150999	102987664	697	122704											
ZNF680	340252	broad.mit.edu	37	chr7	63982037	63982037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttcttatgtctagtAaggtttgcaaactggttaaa	8	4	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:63982037A>G	uc003tta.2	-	4	1268	c.1095T>C	c.(1093-1095)CTT>CTC	p.L365L	ZNF680_uc010kzr.2_Silent_p.L292L	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	365	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				TATGTCTAGTAAGGTTTGCAA	0.348													G	63982037	A	G	63982037	2	3	248	1	0	0	0	0	0	0	0	1	18084	349	13	3		3	ZNF680	7	63982037	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	7831038	63982037	95156626	698	122705											
AUTS2	26053	broad.mit.edu	37	chr7	69599557	69599557	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttgggaacaggctacttCgtaagtctatctcaacttcc	8	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:69599557C>T	uc003tvw.3	+	4	1403	c.660C>T	c.(658-660)TTC>TTT	p.F220F	AUTS2_uc003tvv.3_Silent_p.F220F|AUTS2_uc003tvx.3_Silent_p.F220F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	220										ovary(2)|central_nervous_system(1)	3		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)		CAGGCTACTTCGTAAGTCTAT	0.378													T	69599557	C	T	69599557	2	4	248	1	0	0	0	0	0	0	0	1	1225	898	31	1		1	AUTS2	7	69599557	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5617520	69599557	89539106	699	122706											
STAG3L3	442578	broad.mit.edu	37	chr7	72470008	72470008	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actcacttaaggataagtatCagtaatctgacggcctccac	7	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:72470008C>A	uc003txd.3	-	6	849	c.333G>T	c.(331-333)CTG>CTT	p.L111L	FKBP6_uc003twz.2_Intron|STAG3L3_uc011kem.1_RNA|STAG3L3_uc003txa.2_RNA|STAG3L3_uc010laq.1_RNA	NM_001013739	NP_001013761	P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3	111						nucleus	binding				0		Lung NSC(55;0.197)				GGATAAGTATCAGTAATCTGA	0.502													A	72470008	C	A	72470008	2	1	248	1	0	0	0	0	0	0	0	1	15245	813	29	5		5	STAG3L3	7	72470008	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2870451	72470008	86668655	700	122707											
CLIP2	7461	broad.mit.edu	37	chr7	73790714	73790714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcaagatggagcaccaGctggagctgggtaacttgca	14	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:73790714G>A	uc003uam.2	+	10	2310	c.1983G>A	c.(1981-1983)CAG>CAA	p.Q661Q	CLIP2_uc003uan.2_Silent_p.Q626Q|CLIP2_uc003uao.2_Silent_p.Q55Q	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	661						microtubule associated complex				skin(3)	3						TGGAGCACCAGCTGGAGCTGG	0.627													A	73790714	G	A	73790714	2	1	248	1	0	0	0	0	0	0	0	1	3533	962	34	2		2	CLIP2	7	73790714	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1320706	73790714	85347949	701	122708											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73973307	73973307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccgttccgaaagccctgtAccttcggctcccagaacctg	8	17	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:73973307A>G	uc003uaq.2	+	21	2662	c.2269A>G	c.(2269-2271)ACC>GCC	p.T757A	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.T774A|GTF2IRD1_uc003uap.2_Missense_Mutation_p.T742A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.T742A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	757	GTF2I-like 4.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						AAAGCCCTGTACCTTCGGCTC	0.582													G	73973307	A	G	73973307	3	3	248	1	0	0	0	0	1	0	0	0	6868	391	14	3	2347	3	GTF2IRD1	7	73973307	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	182593	73973307	85165356	702	122709											
RSBN1L	222194	broad.mit.edu	37	chr7	77408030	77408032	+	In_Frame_Del	DEL	GAG	GAG	-													ggctcaaattatatcactcaGaggaggacacttctcagaat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:77408029_77408031AGAG>A	uc010ldt.1	+	7	2129_2131	c.2085_2087AGAG>A	c.(2083-2088)tcagag>tcAg	p.E697del		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	697						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						TATATCACTCAGAGGAGGACACT	0.394													-	77408032	GAG	-	77408030	7	5	248	1	0	1	0	1	0	0	0	0	13697	943	33	0	2116	0	RSBN1L	7	77408030	In_Frame_Del	DEL	GAG	TCGA-FP-A4BE-01A-12D-A24D-08	3434723	77408030	81730633	703	122710											
RSBN1L	222194	broad.mit.edu	37	chr7	77408157	77408158	+	Frame_Shift_Ins	INS	-	-	T													aaagcctccttggattctgtINStttttcagataaacttcatt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:77408156_77408157G>GT	uc010ldt.1	+	7	2256_2257	c.2212_2213G>GT	c.(2212-2214)gttfs	p.V738fs		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	738						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						CTTGGATTCTGTTTTTTCAGAT	0.356													T	77408158	-	T	77408157	7	5	248	1	0	1	1	0	0	0	0	0	13697	1725	60	0	2243	0	RSBN1L	7	77408157	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	127	77408157	81730506	704	122711											
SEMA3C	10512	broad.mit.edu	37	chr7	80374453	80374453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccatggggaccatttgtcCgtcacaacagccaccatttc	8	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:80374453C>T	uc003uhj.2	-	18	2575	c.2013G>A	c.(2011-2013)ACG>ACA	p.T671T	SEMA3C_uc011kgw.1_Silent_p.T689T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	671					immune response|response to drug	membrane	receptor activity			ovary(1)	1						ACCATTTGTCCGTCACAACAG	0.473													T	80374453	C	T	80374453	2	4	248	1	0	0	0	0	0	0	0	1	14026	639	23	1		1	SEMA3C	7	80374453	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2966296	80374453	78764210	705	122712											
PCLO	27445	broad.mit.edu	37	chr7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctacctttggtactgtaCgcaaatcaattacatcacca	4	12	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:82582077C>T	uc003uhx.2	-	5	8481	c.8192G>A	c.(8191-8193)CGT>CAT	p.R2731H	PCLO_uc003uhv.2_Missense_Mutation_p.R2731H|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2662					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGGTACTGTACGCAAATCAAT	0.353													T	82582077	C	T	82582077	3	4	248	1	0	0	0	0	1	0	0	0	11583	536	19	1	7337	1	PCLO	7	82582077	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2207624	82582077	76556586	706	122713											
ABCB4	5244	broad.mit.edu	37	chr7	87069126	87069127	+	Frame_Shift_Del	DEL	CT	CT	-													cccaccactcagctgggcccCtctctctccaaccagggtgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:87069125_87069126CCT>C	uc003uiv.1	-	13	1664_1665	c.1588_1589AGG>G	c.(1588-1590)gggfs	p.G530fs	ABCB4_uc003uiw.1_Frame_Shift_Del_p.G530fs|ABCB4_uc003uix.1_Frame_Shift_Del_p.G530fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	530	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma 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)					CAGCTGGGCCCCTCTCTCTCCA	0.485													-	87069127	CT	-	87069126	7	5	248	1	0	1	0	1	0	0	0	0	43	681	24	0	2332	0	ABCB4	7	87069126	Frame_Shift_Del	DEL	CT	TCGA-FP-A4BE-01A-12D-A24D-08	4487049	87069126	72069537	707	122714											
CCDC132	55610	broad.mit.edu	37	chr7	92926489	92926489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaagaattttgtggtaGcaagtctgaagttttacagg	13	3	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:92926489G>A	uc003umo.2	+	16	1423	c.1295G>A	c.(1294-1296)AGC>AAC	p.S432N	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.S402N|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.S152N	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	432											0	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)			TTTTGTGGTAGCAAGTCTGAA	0.323													A	92926489	G	A	92926489	3	1	248	1	0	0	0	0	1	0	0	0	2767	971	34	2	1399	2	CCDC132	7	92926489	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5857363	92926489	66212174	708	122715											
TRRAP	8295	broad.mit.edu	37	chr7	98608720	98608720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagagtaacatggtgccgCgcagcatgctcaaggagtgg	14	9	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:98608720C>T	uc003upp.2	+	70	11151	c.10942C>T	c.(10942-10944)CGC>TGC	p.R3648C	TRRAP_uc011kis.1_Missense_Mutation_p.R3619C|TRRAP_uc003upr.2_Missense_Mutation_p.R3354C|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3648	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			CATGGTGCCGCGCAGCATGCT	0.547													T	98608720	C	T	98608720	3	4	248	1	0	0	0	0	1	0	0	0	16598	768	27	1	11125	1	TRRAP	7	98608720	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5682231	98608720	60529943	709	122716											
SMURF1	57154	broad.mit.edu	37	chr7	98647228	98647228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtctgtaaactgggttgttCggttattatgatctacaaaa	10	5	2	1	rs139427854		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:98647228C>T	uc003upu.1	-	10	1309	c.989G>A	c.(988-990)CGA>CAA	p.R330Q	SMURF1_uc003upv.1_Missense_Mutation_p.R304Q|SMURF1_uc003upt.2_Missense_Mutation_p.R304Q	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	330	WW 2.				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			skin(2)|ovary(1)|lung(1)	4	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)			CTGGGTTGTTCGGTTATTATG	0.398													T	98647228	C	T	98647228	3	4	248	1	0	0	0	0	1	0	0	0	14819	884	31	1	1324	1	SMURF1	7	98647228	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	38508	98647228	60491435	710	122717											
PDAP1	11333	broad.mit.edu	37	chr7	99002491	99002493	+	In_Frame_Del	DEL	CTT	CTT	-													aggcacgtactcaccctggcCttctgcttctcagcctgcag					rs141998655		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:99002491_99002493delCTT	uc003uqe.2	-	2	218_220	c.97_99delAAG	c.(97-99)AAGdel	p.K33del		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	33					cell proliferation|signal transduction						0	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)	TCACCCTGGCCTTCTGCTTCTCA	0.616													-	99002493	CTT	-	99002491	7	5	248	1	0	1	0	1	0	0	0	0	11613	680	24	0	466	0	PDAP1	7	99002491	In_Frame_Del	DEL	CTT	TCGA-FP-A4BE-01A-12D-A24D-08	355263	99002491	60136172	711	122718											
PTCD1	26024	broad.mit.edu	37	chr7	99030941	99030941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcaggtagccaaccCgcccgcagcccccaatcagc	7	20	3	0	rs150185353		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:99030941C>T	uc003uqh.2	-	3	685	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	PTCD1_uc011kiw.1_Missense_Mutation_p.R234Q	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	185	PPR 2.									ovary(1)	1	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)			GTAGCCAACCCGCCCGCAGCC	0.403													T	99030941	C	T	99030941	3	4	248	1	0	0	0	0	1	0	0	0	12727	652	23	1	1572	1	PTCD1	7	99030941	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	28450	99030941	60107722	712	122719											
STAG3	10734	broad.mit.edu	37	chr7	99809071	99809071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagcagtcagcccgtcGcaggcaccgagaggtcaagg	13	14	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:99809071G>A	uc003utx.1	+	31	3579	c.3424G>A	c.(3424-3426)GCA>ACA	p.A1142T	STAG3_uc011kjk.1_Missense_Mutation_p.A1084T|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.A367T|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1142					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGCCCGTCGCAGGCACCGA	0.517													A	99809071	G	A	99809071	3	1	248	1	0	0	0	0	1	0	0	0	15243	1087	38	1	3542	1	STAG3	7	99809071	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	778130	99809071	59329592	713	122720											
C7orf51	222950	broad.mit.edu	37	chr7	100086272	100086272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcagccctcccgagcCggagggacgggacgcccacc	13	18	1	0	rs138038785		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100086272C>T	uc003uvd.1	+	4	1087	c.928C>T	c.(928-930)CGG>TGG	p.R310W	C7orf51_uc003uve.1_Missense_Mutation_p.R92W	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	310	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCCGAGCCGGAGGGACGG	0.687													T	100086272	C	T	100086272	3	4	248	1	0	0	0	0	1	0	0	0	2400	643	23	1	938	1	C7orf51	7	100086272	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	277201	100086272	59052391	714	122721											
GIGYF1	64599	broad.mit.edu	37	chr7	100284638	100284638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcgtacctccatcccGccttgctgacttctcaaacc	5	19	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100284638G>A	uc003uwg.1	-	6	1523	c.514C>T	c.(514-516)CGG>TGG	p.R172W		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	172										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTCCATCCCGCCTTGCTGAC	0.652													A	100284638	G	A	100284638	3	1	248	1	0	0	0	0	1	0	0	0	6377	1086	38	1	2669	1	GIGYF1	7	100284638	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	198366	100284638	58854025	715	122722											
GIGYF1	64599	broad.mit.edu	37	chr7	100285170	100285171	+	Frame_Shift_Ins	INS	-	-	G													cctcgggaggtgccagccagINSgggggggccagcccctttcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100285169_100285170A>AG	uc003uwg.1	-	3	1340_1341	c.331_332T>CT	c.(331-333)ctgfs	p.L111fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	111								p.L111fs*234(2)		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)					GGTGCCAGCCAGGGGGGGGCCA	0.673													G	100285171	-	G	100285170	7	5	248	1	0	1	1	0	0	0	0	0	6377	991	35	0	2860	0	GIGYF1	7	100285170	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	532	100285170	58853493	716	122723											
TRIM56	81844	broad.mit.edu	37	chr7	100732110	100732110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatgcctggagacaagcGgtccccccggatcaccgggc	15	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100732110G>A	uc003uxq.2	+	3	1748	c.1517G>A	c.(1516-1518)CGG>CAG	p.R506Q	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	506					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGACAAGCGGTCCCCCCGG	0.662													A	100732110	G	A	100732110	3	1	248	1	0	0	0	0	1	0	0	0	16527	1116	39	1	1519	1	TRIM56	7	100732110	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	446940	100732110	58406553	717	122724											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855928	+	Frame_Shift_Ins	INS	-	-	G													aacacggccagaaacacccgINSggggggaggctggaagatgc					rs138002558	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100855926_100855927C>CG	uc003uyd.3	-	8	1345_1346	c.889_890G>CG	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(4)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGGC	0.639													G	100855928	-	G	100855927	7	5	248	1	0	1	1	0	0	0	0	0	12103	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	123817	100855927	58282736	718	122725											
RELN	5649	broad.mit.edu	37	chr7	103230147	103230147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctctggagtttccttcGcatcctttgcctgcagaagc	9	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:103230147G>A	uc003vca.2	-	28	4201	c.4041C>T	c.(4039-4041)TGC>TGT	p.C1347C	RELN_uc010liz.2_Silent_p.C1347C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1347					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTTTCCTTCGCATCCTTTGC	0.473													A	103230147	G	A	103230147	2	1	248	1	0	0	0	0	0	0	0	1	13220	1079	38	1		1	RELN	7	103230147	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2374220	103230147	55908516	719	122726											
LHFPL3	375612	broad.mit.edu	37	chr7	103969403	103969403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcttcatccagccctActggataggcgacggcgtgg	15	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:103969403A>G	uc003vce.2	+	1	300	c.176A>G	c.(175-177)TAC>TGC	p.Y59C	LHFPL3_uc003vcf.2_Missense_Mutation_p.Y59C	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	45						integral to membrane					0						ATCCAGCCCTACTGGATAGGC	0.622													G	103969403	A	G	103969403	3	3	248	1	0	0	0	0	1	0	0	0	8766	391	14	3	178	3	LHFPL3	7	103969403	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	739256	103969403	55169260	720	122727											
CDHR3	222256	broad.mit.edu	37	chr7	105655642	105655642	+	Frame_Shift_Del	DEL	C	C	-													aatccaggtgcaggatgtggCccccccttactataaaagca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:105655642delC	uc003vdl.3	+	10	1418	c.1310delC	c.(1309-1311)GCCfs	p.A437fs	CDHR3_uc003vdk.2_Frame_Shift_Del_p.A85fs|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Frame_Shift_Del_p.A424fs|CDHR3_uc011klt.1_Frame_Shift_Del_p.A349fs|CDHR3_uc003vdn.2_Frame_Shift_Del_p.A154fs	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	437	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CAGGATGTGGCCCCCCCTTAC	0.393													-	105655642	C	-	105655642	7	5	248	1	0	1	0	1	0	0	0	0	3120	739	26	0	1348	0	CDHR3	7	105655642	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	1686239	105655642	53483021	721	122728											
COG5	10466	broad.mit.edu	37	chr7	107188756	107188756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaaagccccaattctcGtctgcatcatctgaagaaca	6	13	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:107188756G>A	uc003ved.2	-	4	932	c.407C>T	c.(406-408)ACG>ATG	p.T136M	COG5_uc003vec.2_Missense_Mutation_p.T136M|COG5_uc003vee.2_Missense_Mutation_p.T136M	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	136					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CCCAATTCTCGTCTGCATCAT	0.323													A	107188756	G	A	107188756	3	1	248	1	0	0	0	0	1	0	0	0	3661	1145	40	1	2255	1	COG5	7	107188756	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1533114	107188756	51949907	722	122729											
BCAP29	55973	broad.mit.edu	37	chr7	107240915	107240915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaactagtagaagaccaggAgaaactgaaaactgaattaa	8	5	0	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:107240915A>G	uc003vej.2	+	6	893	c.554A>G	c.(553-555)GAG>GGG	p.E185G	BCAP29_uc011kly.1_Missense_Mutation_p.E91G|BCAP29_uc011klz.1_Missense_Mutation_p.E185G|BCAP29_uc011kma.1_Missense_Mutation_p.E185G	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	185	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						GAAGACCAGGAGAAACTGAAA	0.328													G	107240915	A	G	107240915	3	3	248	1	0	0	0	0	1	0	0	0	1346	304	11	3	572	3	BCAP29	7	107240915	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	52159	107240915	51897748	723	122730											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518179	113518179	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatctggcctatgcatctttCttttctactacctgatgtca	5	11	5	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:113518179C>A	uc010ljy.1	-	4	2999	c.2968G>T	c.(2968-2970)GAA>TAA	p.E990*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	990					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATGCATCTTTCTTTTCTACTA	0.383													A	113518179	C	A	113518179	4	1	248	1	0	0	0	0	0	1	0	0	12371	922	32	5	404	5	PPP1R3A	7	113518179	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6277264	113518179	45620484	724	122731											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519890	113519890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcactactagtatctccCaatgatggcttgatttctcc	5	12	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:113519890C>A	uc010ljy.1	-	4	1288	c.1257G>T	c.(1255-1257)TTG>TTT	p.L419F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	419					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TAGTATCTCCCAATGATGGCT	0.403													A	113519890	C	A	113519890	3	1	248	1	0	0	0	0	1	0	0	0	12371	593	21	5	2115	5	PPP1R3A	7	113519890	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1711	113519890	45618773	725	122732											
C7orf58	79974	broad.mit.edu	37	chr7	120740093	120740094	+	Frame_Shift_Ins	INS	-	-	T													acccctttgcgtgcattcatINStcattcgacgggcacagttt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:120740092_120740093A>AT	uc003vjq.4	+	6	1309_1310	c.862_863A>AT	c.(862-864)attfs	p.I288fs	C7orf58_uc003vjr.1_Frame_Shift_Ins_p.I288fs|C7orf58_uc003vjs.4_Frame_Shift_Ins_p.I288fs|C7orf58_uc003vjt.4_Frame_Shift_Ins_p.I68fs|C7orf58_uc010lkk.2_Frame_Shift_Ins_p.I68fs	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	288						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GCGTGCATTCATTCATTCGACG	0.436													T	120740094	-	T	120740093	7	5	248	1	0	1	1	0	0	0	0	0	2405	1493	52	0	885	0	C7orf58	7	120740093	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	7220203	120740093	38398570	726	122733											
CADPS2	93664	broad.mit.edu	37	chr7	122130140	122130140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaaaacttacaaagcTgagcatctgcatggagagtt	8	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:122130140T>C	uc010lkp.2	-	11	2010	c.1847A>G	c.(1846-1848)CAG>CGG	p.Q616R	CADPS2_uc003vkg.3_Missense_Mutation_p.Q316R|CADPS2_uc010lkq.2_Missense_Mutation_p.Q616R	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	616					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						CTTACAAAGCTGAGCATCTGC	0.328													C	122130140	T	C	122130140	3	2	248	1	0	0	0	0	1	0	0	0	2571	1580	55	3	2167	3	CADPS2	7	122130140	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1390047	122130140	37008523	727	122734											
IQUB	154865	broad.mit.edu	37	chr7	123104914	123104915	+	Frame_Shift_Ins	INS	-	-	A													attttgcaacttcaggattaINSaacagaggtgttttgatata							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:123104913_123104914T>TA	uc003vkn.3	-	9	2308_2309	c.1731_1732A>TA	c.(1729-1734)tttaatfs	p.F577fs	IQUB_uc003vko.3_Frame_Shift_Ins_p.F577fs|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Frame_Shift_Ins_p.F577fs	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	577										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACTTCAGGATTAAACAGAGGTG	0.317													A	123104915	-	A	123104914	7	5	248	1	0	1	1	0	0	0	0	0	7820	359	13	0	660	0	IQUB	7	123104914	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	974774	123104914	36033749	728	122735											
RBM28	55131	broad.mit.edu	37	chr7	127978327	127978327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctctttcatgttcatgCctttgagagctttacctgct	6	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:127978327C>T	uc003vmp.2	-	5	633	c.518G>A	c.(517-519)GGC>GAC	p.G173D	RBM28_uc003vmo.2_5'Flank|RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.G120D	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	173	RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						CATGTTCATGCCTTTGAGAGC	0.398													T	127978327	C	T	127978327	3	4	248	1	0	0	0	0	1	0	0	0	13128	739	26	2	1821	2	RBM28	7	127978327	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4873413	127978327	31160336	729	122736											
FAM71F2	346653	broad.mit.edu	37	chr7	128320141	128320141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccctcgtgctgctggcGgctgagcagaccagtggcag	16	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:128320141G>A	uc003vnk.3	+	4	778	c.672G>A	c.(670-672)GCG>GCA	p.A224A	FAM71F2_uc010llm.1_Silent_p.A215A|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	224											0						TGCTGCTGGCGGCTGAGCAGA	0.602													A	128320141	G	A	128320141	2	1	248	1	0	0	0	0	0	0	0	1	5613	1103	39	1		1	FAM71F2	7	128320141	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	341814	128320141	30818522	730	122737											
MEST	4232	broad.mit.edu	37	chr7	130143794	130143795	+	Frame_Shift_Ins	INS	-	-	T													tcattttatctatgggccatINStggatcctgtaaatccctat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:130143793_130143794A>AT	uc003vqg.3	+	10	1102_1103	c.846_847A>AT	c.(844-849)ccattgfs	p.P282fs	MEST_uc003vqc.3_Frame_Shift_Ins_p.P273fs|MEST_uc003vqd.3_Frame_Shift_Ins_p.P239fs|MEST_uc022alp.1_Frame_Shift_Ins_p.P239fs|MEST_uc003vqf.3_Frame_Shift_Ins_p.P273fs|MEST_uc011kph.2_Frame_Shift_Ins_p.P268fs	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	282					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)					TCTATGGGCCATTGGATCCTGT	0.406													T	130143795	-	T	130143794	7	5	248	1	0	1	1	0	0	0	0	0	9484	1490	52	0	889	0	MEST	7	130143794	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1823653	130143794	28994869	731	122738											
PLXNA4	91584	broad.mit.edu	37	chr7	131825418	131825418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagcagcttgttggagggcGagtccttgcccagccggtgc	15	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:131825418G>A	uc003vra.3	-	30	5607	c.5378C>T	c.(5377-5379)TCG>TTG	p.S1793L	PLXNA4_uc003vqz.3_Missense_Mutation_p.S78L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1793	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTTGGAGGGCGAGTCCTTGCC	0.587													A	131825418	G	A	131825418	3	1	248	1	0	0	0	0	1	0	0	0	12122	1059	37	1	318	1	PLXNA4	7	131825418	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1681624	131825418	27313245	732	122739											
PLXNA4	91584	broad.mit.edu	37	chr7	131865446	131865446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccagcacagtgtagtTcagcttcacgttgcccccag	8	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:131865446T>C	uc003vra.3	-	19	3767	c.3538A>G	c.(3538-3540)AAC>GAC	p.N1180D		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1180	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ACAGTGTAGTTCAGCTTCACG	0.587													C	131865446	T	C	131865446	3	2	248	1	0	0	0	0	1	0	0	0	12122	1783	62	3	2202	3	PLXNA4	7	131865446	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	40028	131865446	27273217	733	122740											
WDR91	29062	broad.mit.edu	37	chr7	134878103	134878103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggctcggagctgctgcCgaacagacgaaagaggcccc	15	12	0	3	rs148472782	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:134878103C>T	uc003vsp.2	-	11	1601	c.1539G>A	c.(1537-1539)TCG>TCA	p.S513S	WDR91_uc010lmq.2_Silent_p.S102S|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	513										breast(2)|ovary(1)|skin(1)	4						GAGCTGCTGCCGAACAGACGA	0.622													T	134878103	C	T	134878103	2	4	248	1	0	0	0	0	0	0	0	1	17335	639	23	1		1	WDR91	7	134878103	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3012657	134878103	24260560	734	122741											
KLRG2	346689	broad.mit.edu	37	chr7	139168256	139168256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccggacttgggctgctttCgggaccttcaggttgtcgca	15	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:139168256C>T	uc003vvb.2	-	1	202	c.133G>A	c.(133-135)GAA>AAA	p.E45K	KLRG2_uc010lnc.2_Missense_Mutation_p.E45K	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	45	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GGGCTGCTTTCGGGACCTTCA	0.716													T	139168256	C	T	139168256	3	4	248	1	0	0	0	0	1	0	0	0	8422	893	31	1	1116	1	KLRG2	7	139168256	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4290153	139168256	19970407	735	122742											
HIPK2	28996	broad.mit.edu	37	chr7	139416323	139416323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgtttttggaggtggCagtagacgtggtggcagtgg	19	6	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:139416323C>T	uc003vvf.3	-	2	685	c.511G>A	c.(511-513)GCC>ACC	p.A171T	HIPK2_uc003vvd.3_Missense_Mutation_p.A171T	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	171	Transcriptional corepression (By similarity).				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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					TTGGAGGTGGCAGTAGACGTG	0.557													T	139416323	C	T	139416323	3	4	248	1	0	0	0	0	1	0	0	0	7117	710	25	2	3141	2	HIPK2	7	139416323	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	248067	139416323	19722340	736	122743											
HIPK2	28996	broad.mit.edu	37	chr7	139416429	139416429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgttctcgatctcctcGctcttacgcttgagtccaca	7	14	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:139416429G>A	uc003vvf.3	-	2	579	c.405C>T	c.(403-405)AGC>AGT	p.S135S	HIPK2_uc003vvd.3_Silent_p.S135S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	135	Transcriptional corepression (By similarity).				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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					CGATCTCCTCGCTCTTACGCT	0.552													A	139416429	G	A	139416429	2	1	248	1	0	0	0	0	0	0	0	1	7117	1078	38	1		1	HIPK2	7	139416429	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	106	139416429	19722234	737	122744											
MGAM	8972	broad.mit.edu	37	chr7	141803097	141803097	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagccatataattttcaAcaattacatcactggtacaa	4	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:141803097A>T	uc003vwy.2	+	47	5408	c.5354A>T	c.(5353-5355)AAC>ATC	p.N1785I		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1785	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATAATTTTCAACAATTACATC	0.378													T	141803097	A	T	141803097	3	4	248	1	0	0	0	0	1	0	0	0	9541	43	2	5	5536	5	MGAM	7	141803097	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2386668	141803097	17335566	738	122745											
EZH2	2146	broad.mit.edu	37	chr7	148506210	148506210	+	Frame_Shift_Del	DEL	A	A	-													gtctggatggctctcttggcAaaaatacctatcctgtgatc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:148506209_148506209CA>C	uc003wfd.2	-	18	2327	c.2134_2134TG>G	c.(2134-2136)gccfs	p.A712fs	EZH2_uc022aov.1_Frame_Shift_Del_p.A631fs|EZH2_uc011kug.2_Frame_Shift_Del_p.A661fs|EZH2_uc003wfb.2_Frame_Shift_Del_p.A717fs|EZH2_uc003wfc.2_Frame_Shift_Del_p.A673fs|EZH2_uc011kuh.2_Frame_Shift_Del_p.A703fs	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	712	SET.				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	p.R712R(1)		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)			GCTCTCTTGGCAAAAATACCT	0.448			Mis		DLBCL								-	148506210	A	-	148506210	7	5	248	1	0	1	0	1	0	0	0	0	5334	127	5	0	115	0	EZH2	7	148506210	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	6703113	148506210	10632453	739	122746											
SSPO	23145	broad.mit.edu	37	chr7	149489805	149489805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgccgtggcatccaccGcaaggcacgcaggtgctctg	13	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:149489805G>A	uc010lpk.2	+	39	5861	c.5861G>A	c.(5860-5862)CGC>CAC	p.R1954H		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1954	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATCCACCGCAAGGCACGC	0.687													A	149489805	G	A	149489805	3	1	248	1	0	0	0	0	1	0	0	0	15188	1087	38	1	6007	1	SSPO	7	149489805	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	983595	149489805	9648858	740	122747											
ATP6V0E2	155066	broad.mit.edu	37	chr7	149576655	149576655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcctgctccaatacccGcactgctctggagtttgccc	9	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:149576655G>A	uc003wgr.2	+	4	1551	c.600G>A	c.(598-600)CCG>CCA	p.P200P	ATP6V0E2_uc003wgs.2_Silent_p.P177P|ATP6V0E2_uc003wgp.2_3'UTR|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting, V0 subunit isoform 1	Error:Variant_position_missing_in_Q8NHE4_after_alignment					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				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			TCCAATACCCGCACTGCTCTG	0.632													A	149576655	G	A	149576655	2	1	248	1	0	0	0	0	0	0	0	1	1176	1074	38	1		1	ATP6V0E2	7	149576655	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	86850	149576655	9562008	741	122748											
GIMAP8	155038	broad.mit.edu	37	chr7	150174633	150174633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagataacaaagcccttcGgcgcatttttaaaaagtgtg	8	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:150174633G>A	uc003whj.2	+	5	2093	c.1763G>A	c.(1762-1764)CGG>CAG	p.R588Q		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	588						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGCCCTTCGGCGCATTTTT	0.468													A	150174633	G	A	150174633	3	1	248	1	0	0	0	0	1	0	0	0	6385	1116	39	1	1777	1	GIMAP8	7	150174633	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	597978	150174633	8964030	742	122749											
FASTK	10922	broad.mit.edu	37	chr7	150774416	150774417	+	Frame_Shift_Del	DEL	CA	CA	-													cctgtgcagtagcctggaggCacagtcaggtcctggcggta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:150774415_150774416GCA>G	uc003wix.1	-	6	1370_1371	c.1272_1273TGC>C	c.(1270-1275)gtgcctfs	p.V424fs	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Frame_Shift_Del_p.V185fs|FASTK_uc003wiy.1_Frame_Shift_Del_p.V283fs|FASTK_uc003wiz.1_Frame_Shift_Del_p.V397fs|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	424			V -> L (in a lung adenocarcinoma sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	p.V424L(2)		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)		TAGCCTGGAGGCACAGTCAGGT	0.649													-	150774417	CA	-	150774416	7	5	248	1	0	1	0	1	0	0	0	0	5684	697	25	0	393	0	FASTK	7	150774416	Frame_Shift_Del	DEL	CA	TCGA-FP-A4BE-01A-12D-A24D-08	599783	150774416	8364247	743	122750											
ABCF2	10061	broad.mit.edu	37	chr7	150920903	150920903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatccagctcctccaggcGctcgtagagctccatgagct	11	15	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:150920903G>A	uc003wjp.2	-	5	694	c.583C>T	c.(583-585)CGC>TGC	p.R195C	ABCF2_uc003wjo.1_Missense_Mutation_p.R195C	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	195	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCCAGGCGCTCGTAGAGC	0.602													A	150920903	G	A	150920903	3	1	248	1	0	0	0	0	1	0	0	0	66	1087	38	1	1373	1	ABCF2	7	150920903	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	146487	150920903	8217760	744	122751											
ZNF596	169270	broad.mit.edu	37	chr8	195440	195441	+	Frame_Shift_Ins	INS	-	-	GT													gagataacattggaatgtcgINStgtgtgtgggaaaaccttta					rs141776606		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:195439_195440C>CGT	uc003wot.3	+	5	880_881	c.592_593C>CGT	c.(592-594)cgtfs	p.R198fs	ZNF596_uc003wou.3_Frame_Shift_Ins_p.R97fs|ZNF596_uc003wov.3_Frame_Shift_Ins_p.R198fs|ZNF596_uc003wow.3_Frame_Shift_Ins_p.R198fs	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATTGGAATGTCGTGTGTGTGGG	0.406													GT	195441	-	GT	195440	7	5	248	1	0	1	1	0	0	0	0	0	18023	1145	40	0	611	0	ZNF596	8	195440	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08		195440	146168582	745	122752											
CSMD1	64478	broad.mit.edu	37	chr8	2949052	2949052	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacctgcatagcgaatcTtgaatcctttcttactggtg	7	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:2949052T>G	uc011kwk.1	-	48	7664	c.7274A>C	c.(7273-7275)AAG>ACG	p.K2425T	CSMD1_uc011kwj.1_Missense_Mutation_p.K1754T|CSMD1_uc010lrg.2_Missense_Mutation_p.K493T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2425	CUB 14.|Extracellular (Potential).					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)		ATAGCGAATCTTGAATCCTTT	0.313													G	2949052	T	G	2949052	3	3	248	1	0	0	0	0	1	0	0	0	3944	1609	56	5	3515	5	CSMD1	8	2949052	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	2753612	2949052	143414970	746	122753											
CSMD1	64478	broad.mit.edu	37	chr8	3265576	3265576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgccatcatccttgaccGcgagaaagtcaaactgaggc	9	11	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:3265576G>A	uc011kwk.1	-	14	2309	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	CSMD1_uc011kwj.1_Missense_Mutation_p.A32V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	640	Extracellular (Potential).|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)		ATCCTTGACCGCGAGAAAGTC	0.453													A	3265576	G	A	3265576	3	1	248	1	0	0	0	0	1	0	0	0	3944	1087	38	1	9006	1	CSMD1	8	3265576	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	316524	3265576	143098446	747	122754											
XKR5	389610	broad.mit.edu	37	chr8	6681079	6681079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagtggtaggctttgtAgaacagaaccagactcagca	10	9	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:6681079A>G	uc003wqp.2	-	4	623	c.601T>C	c.(601-603)TAC>CAC	p.Y201H	XKR5_uc003wqq.2_Missense_Mutation_p.Y38H|XKR5_uc003wqr.1_RNA	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	XK-related protein 5a	201						integral to membrane					0			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TAGGCTTTGTAGAACAGAACC	0.448													G	6681079	A	G	6681079	3	3	248	1	0	0	0	0	1	0	0	0	17431	420	15	3	1476	3	XKR5	8	6681079	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3415503	6681079	139682943	748	122755											
SGK223	157285	broad.mit.edu	37	chr8	8234140	8234140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtccggcaggaaggagcGgggtcagcaggaccttggga	19	8	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:8234140G>A	uc003wsh.3	-	2	1779	c.1779C>T	c.(1777-1779)CCC>CCT	p.P593P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	593			P -> A.				ATP binding|non-membrane spanning protein tyrosine kinase activity				0						AGGAAGGAGCGGGGTCAGCAG	0.672													A	8234140	G	A	8234140	2	1	248	1	0	0	0	0	0	0	0	1	14210	1103	39	1		1	SGK223	8	8234140	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1553061	8234140	138129882	749	122756											
CTSB	1508	broad.mit.edu	37	chr8	11710861	11710861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtattccgtttgtTgacatagttgaccagctcat	9	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:11710861T>C	uc003wum.2	-	4	427	c.103A>G	c.(103-105)AAC>GAC	p.N35D	CTSB_uc011kxl.1_Intron|CTSB_uc003wun.2_Missense_Mutation_p.N35D|CTSB_uc003wuo.2_Missense_Mutation_p.N35D|CTSB_uc003wup.2_Missense_Mutation_p.N35D|CTSB_uc003wuq.2_Missense_Mutation_p.N35D|CTSB_uc010lsc.2_5'UTR|CTSB_uc003wur.2_Missense_Mutation_p.N35D|CTSB_uc003wus.1_Missense_Mutation_p.N35D|CTSB_uc003wut.1_Missense_Mutation_p.N35D	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	35					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TTCCGTTTGTTGACATAGTTG	0.607													C	11710861	T	C	11710861	3	2	248	1	0	0	0	0	1	0	0	0	4030	1812	63	3	952	3	CTSB	8	11710861	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3476721	11710861	134653161	750	122757											
LONRF1	91694	broad.mit.edu	37	chr8	12589277	12589277	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttcttcatcatatatTttttttctctcagacagttc	4	9	5	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:12589277T>A	uc003wwd.1	-	8	1719	c.1656A>T	c.(1654-1656)AAA>AAT	p.K552N	LONRF1_uc011kxv.1_Missense_Mutation_p.K141N|LONRF1_uc010lsp.1_Missense_Mutation_p.K152N	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	552					proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		CATCATATATTTTTTTTCTCT	0.348													A	12589277	T	A	12589277	3	1	248	1	0	0	0	0	1	0	0	0	8894	1838	64	5	685	5	LONRF1	8	12589277	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	878416	12589277	133774745	751	122758											
DLC1	10395	broad.mit.edu	37	chr8	13357501	13357501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgatgacatgctgtgttaCgatcatcagaattaaaaggc	9	7	2	3	rs11990333	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:13357501C>T	uc003wwm.2	-	2	524	c.80G>A	c.(79-81)CGT>CAT	p.R27H	DLC1_uc003wwn.2_Missense_Mutation_p.R27H|DLC1_uc011kxy.1_Missense_Mutation_p.R27H	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	27					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGCTGTGTTACGATCATCAGA	0.433													T	13357501	C	T	13357501	3	4	248	1	0	0	0	0	1	0	0	0	4550	536	19	1	4659	1	DLC1	8	13357501	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	768224	13357501	133006521	752	122759											
MTUS1	57509	broad.mit.edu	37	chr8	17510955	17510955	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagcgattcctgcttctcAgaaagtaaatcttcaagcga	7	10	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:17510955A>G	uc003wxv.2	-	11	3741	c.3267T>C	c.(3265-3267)TCT>TCC	p.S1089S	MTUS1_uc003wxt.2_Silent_p.S336S|MTUS1_uc011kyg.1_Silent_p.S234S|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.S1035S|MTUS1_uc003wxs.2_Silent_p.S255S	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	1089	Potential.					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CCTGCTTCTCAGAAAGTAAAT	0.333													G	17510955	A	G	17510955	2	3	248	1	0	0	0	0	0	0	0	1	9965	175	7	3		3	MTUS1	8	17510955	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	4153454	17510955	128853067	753	122760											
ATP6V1B2	526	broad.mit.edu	37	chr8	20077858	20077858	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccaaagaaatgctgaagaGaatccctcagagcaccctca	7	14	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:20077858G>A	uc003wzp.2	+	14	1695	c.1481G>A	c.(1480-1482)AGA>AAA	p.R494K	ATP6V1B2_uc003wzq.1_RNA	NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	494					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				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		ATGCTGAAGAGAATCCCTCAG	0.463													A	20077858	G	A	20077858	3	1	248	1	0	0	0	0	1	0	0	0	1179	942	33	4	1535	4	ATP6V1B2	8	20077858	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2566903	20077858	126286164	754	122761											
LZTS1	11178	broad.mit.edu	37	chr8	20107358	20107358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccaggcgctggttccGctggtacatggccacgtagc	12	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:20107358G>A	uc003wzr.2	-	3	1777	c.1666C>T	c.(1666-1668)CGG>TGG	p.R556W	LZTS1_uc010ltg.1_Missense_Mutation_p.R497W	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	556					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGCTGGTTCCGCTGGTACATG	0.627													A	20107358	G	A	20107358	3	1	248	1	0	0	0	0	1	0	0	0	9138	1086	38	1	128	1	LZTS1	8	20107358	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	29500	20107358	126256664	755	122762											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22969281	22969281	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggaggaagttccccagCagacagtggccccacagcaa	13	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:22969281C>T	uc003xcy.2	+	2	310	c.109C>T	c.(109-111)CAG>TAG	p.Q37*	TNFRSF10C_uc011kzr.1_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	37	TNFR-Cys 1.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AGTTCCCCAGCAGACAGTGGC	0.512													T	22969281	C	T	22969281	4	4	248	1	0	0	0	0	0	1	0	0	16279	711	25	2	115	2	TNFRSF10C	8	22969281	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2861923	22969281	123394741	756	122763											
LOXL2	4017	broad.mit.edu	37	chr8	23198563	23198563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaacatgccgcagaccaCgcgggaattcttggccgtcc	11	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:23198563C>T	uc003xdh.1	-	4	1024	c.685G>A	c.(685-687)GTG>ATG	p.V229M	uc003xdj.2_RNA|uc003xdi.2_RNA	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	229	SRCR 2.				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)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCGCAGACCACGCGGGAATTC	0.572													T	23198563	C	T	23198563	3	4	248	1	0	0	0	0	1	0	0	0	8900	536	19	1	1683	1	LOXL2	8	23198563	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	229282	23198563	123165459	757	122764											
ADAM7	8756	broad.mit.edu	37	chr8	24358377	24358377	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatactattagttcgttacCgaaaatgtatcaagttgaag	7	5	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:24358377C>T	uc003xeb.2	+	19	2190	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	ADAM7_uc003xec.2_Nonsense_Mutation_p.R465*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	693	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGTTCGTTACCGAAAATGTAT	0.368													T	24358377	C	T	24358377	4	4	248	1	0	0	0	0	0	1	0	0	251	644	23	1	2151	1	ADAM7	8	24358377	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1159814	24358377	122005645	758	122765											
NEFL	4747	broad.mit.edu	37	chr8	24813797	24813797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttgaggtcgttgctgatgGcggctacctggctcaggtcg	15	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:24813797G>T	uc003xee.2	-	1	335	c.233C>A	c.(232-234)GCC>GAC	p.A78D		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	78	Head.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTTGCTGATGGCGGCTACCTG	0.637													T	24813797	G	T	24813797	3	4	248	1	0	0	0	0	1	0	0	0	10315	1203	42	5	1415	5	NEFL	8	24813797	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	455420	24813797	121550225	759	122766											
CDCA2	157313	broad.mit.edu	37	chr8	25365147	25365147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcaaatactaaagccActtcccagttcaaaggctac	5	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:25365147A>G	uc003xep.1	+	15	3444	c.2965A>G	c.(2965-2967)ACT>GCT	p.T989A	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.T974A|CDCA2_uc003xer.1_Missense_Mutation_p.T652A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	989					cell division|mitosis	cytoplasm|nucleus					0		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)		TACTAAAGCCACTTCCCAGTT	0.463													G	25365147	A	G	25365147	3	3	248	1	0	0	0	0	1	0	0	0	3086	159	6	3	3019	3	CDCA2	8	25365147	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	551350	25365147	120998875	760	122767											
DPYSL2	1808	broad.mit.edu	37	chr8	26441410	26441410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaattgacgtccacactcGtttccagatgcctgatcagg	10	11	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:26441410G>A	uc003xfb.1	+	3	574	c.224G>A	c.(223-225)CGT>CAT	p.R75H	DPYSL2_uc003xfa.2_Missense_Mutation_p.R180H|DPYSL2_uc011lag.1_Missense_Mutation_p.R75H|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.R39H	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	75					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		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)		GTCCACACTCGTTTCCAGATG	0.522													A	26441410	G	A	26441410	3	1	248	1	0	0	0	0	1	0	0	0	4747	1145	40	1	234	1	DPYSL2	8	26441410	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1076263	26441410	119922612	761	122768											
SCARA5	286133	broad.mit.edu	37	chr8	27779142	27779142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcccagtccttgaggcGcaggtcctcggtgaccgcgt	14	14	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:27779142G>A	uc003xgj.2	-	4	1302	c.862C>T	c.(862-864)CGC>TGC	p.R288C	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Missense_Mutation_p.R245C|SCARA5_uc003xgl.2_Missense_Mutation_p.R288C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	288	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCCTTGAGGCGCAGGTCCTCG	0.677													A	27779142	G	A	27779142	3	1	248	1	0	0	0	0	1	0	0	0	13880	1087	38	1	649	1	SCARA5	8	27779142	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1337732	27779142	118584880	762	122769											
HMBOX1	79618	broad.mit.edu	37	chr8	28827640	28827640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttcagcgacttcggcGtactggaatgactaaacatg	10	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:28827640G>A	uc003xhd.3	+	3	446	c.104G>A	c.(103-105)CGT>CAT	p.R35H	HMBOX1_uc010lvd.2_Missense_Mutation_p.R35H|HMBOX1_uc003xhc.3_Missense_Mutation_p.R35H|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.R35H|HMBOX1_uc011lay.1_Missense_Mutation_p.R35H|HMBOX1_uc003xhf.2_Missense_Mutation_p.R23H|HMBOX1_uc003xhg.2_Missense_Mutation_p.R23H	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	35					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CGACTTCGGCGTACTGGAATG	0.403													A	28827640	G	A	28827640	3	1	248	1	0	0	0	0	1	0	0	0	7218	1145	40	1	110	1	HMBOX1	8	28827640	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1048498	28827640	117536382	763	122770											
KCNU1	157855	broad.mit.edu	37	chr8	36766906	36766906	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagatgcccactcagccccGatggggcttcggaactttgt	13	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:36766906G>A	uc010lvw.2	+	21	2271	c.2184G>A	c.(2182-2184)CCG>CCA	p.P728P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468													A	36766906	G	A	36766906	2	1	248	1	0	0	0	0	0	0	0	1	8093	1045	37	1		1	KCNU1	8	36766906	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7939266	36766906	109597116	764	122771											
PROSC	11212	broad.mit.edu	37	chr8	37623853	37623853	+	Frame_Shift_Del	DEL	A	A	-													cattggccacctacagaaacAaaatgtcaacaaattgatgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:37623852_37623852CA>C	uc003xkh.3	+	3	375	c.298_298CA>C	c.(298-300)caafs	p.Q100fs		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	100							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)	CCTACAGAAACAAAATGTCAA	0.358													-	37623853	A	-	37623853	7	5	248	1	0	1	0	1	0	0	0	0	12559	130	5	0	313	0	PROSC	8	37623853	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	856947	37623853	108740169	765	122772											
ADRB3	155	broad.mit.edu	37	chr8	37823528	37823528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaccacagctgtccgggCgcagcgcttggtgaccagtg	15	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:37823528C>T	uc003xkr.1	-	1	657	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	154	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	GCTGTCCGGGCGCAGCGCTTG	0.692													T	37823528	C	T	37823528	3	4	248	1	0	0	0	0	1	0	0	0	342	768	27	1	774	1	ADRB3	8	37823528	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	199675	37823528	108540494	766	122773											
HTRA4	203100	broad.mit.edu	37	chr8	38834063	38834063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagacaggttacttcaCggcagcaggcttgttcctgt	13	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:38834063C>T	uc003xmj.2	+	3	691	c.576C>T	c.(574-576)CAC>CAT	p.H192H		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	192					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GGTTACTTCACGGCAGCAGGC	0.473													T	38834063	C	T	38834063	2	4	248	1	0	0	0	0	0	0	0	1	7456	535	19	1		1	HTRA4	8	38834063	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1010535	38834063	107529959	767	122774											
ANK1	286	broad.mit.edu	37	chr8	41581120	41581120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatcacgttgcccctgCgggaggcgatgtgcagtggc	15	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:41581120C>T	uc003xok.2	-	8	827	c.743G>A	c.(742-744)CGC>CAC	p.R248H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R248H|ANK1_uc003xoj.2_Missense_Mutation_p.R248H|ANK1_uc003xol.2_Missense_Mutation_p.R248H|ANK1_uc003xom.2_Missense_Mutation_p.R281H	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	248	ANK 7.|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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			GTTGCCCCTGCGGGAGGCGAT	0.637													T	41581120	C	T	41581120	3	4	248	1	0	0	0	0	1	0	0	0	620	768	27	1	5396	1	ANK1	8	41581120	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2747057	41581120	104782902	768	122775											
PLAT	5327	broad.mit.edu	37	chr8	42038027	42038027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcctggaagcagtgggCggcagagagaatccagcagg	15	11	1	2	rs140012141		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:42038027C>T	uc003xos.2	-	10	1275	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T	PLAT_uc010lxf.1_Missense_Mutation_p.A273T|PLAT_uc010lxg.1_Missense_Mutation_p.A181T|PLAT_uc003xot.2_Missense_Mutation_p.A310T|PLAT_uc011lcm.1_Missense_Mutation_p.A267T|PLAT_uc011lcn.1_Missense_Mutation_p.A230T	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	356	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGCAGTGGGCGGCAGAGAGA	0.592													T	42038027	C	T	42038027	3	4	248	1	0	0	0	0	1	0	0	0	12021	768	27	1	642	1	PLAT	8	42038027	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	456907	42038027	104325995	769	122776											
SLC20A2	6575	broad.mit.edu	37	chr8	42294680	42294680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttcatctccacgccGccctcctccgcctcgatctc	6	22	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:42294680G>A	uc010lxl.2	-	8	2044	c.1350C>T	c.(1348-1350)GGC>GGT	p.G450G	SLC20A2_uc010lxm.2_Silent_p.G450G|SLC20A2_uc003xpe.2_Silent_p.G450G|SLC20A2_uc011lcu.1_Silent_p.G252G	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	450	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCTCCACGCCGCCCTCCTCCG	0.652													A	42294680	G	A	42294680	2	1	248	1	0	0	0	0	0	0	0	1	14439	1074	38	1		1	SLC20A2	8	42294680	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	256653	42294680	104069342	770	122777											
SLC20A2	6575	broad.mit.edu	37	chr8	42295010	42295010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgtggtacacatgaccGtcgctcctggtgtggccgtc	14	12	0	1	rs141611151		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:42295010G>A	uc010lxl.2	-	8	1714	c.1020C>T	c.(1018-1020)GAC>GAT	p.D340D	SLC20A2_uc010lxm.2_Silent_p.D340D|SLC20A2_uc003xpe.2_Silent_p.D340D|SLC20A2_uc011lcu.1_Silent_p.D142D	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	340	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACACATGACCGTCGCTCCTGG	0.577													A	42295010	G	A	42295010	2	1	248	1	0	0	0	0	0	0	0	1	14439	1136	40	1		1	SLC20A2	8	42295010	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	330	42295010	104069012	771	122778											
HGSNAT	138050	broad.mit.edu	37	chr8	43054586	43054587	+	Frame_Shift_Ins	INS	-	-	A													tgtttgagaactacttccccINStttcagtggaagctgaagga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:43054586_43054587insA	uc003xpx.3	+	18	1830_1831	c.1782_1783insA	c.(1780-1785)CCCTTTfs	p.P594fs		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	622_623	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	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)			ACTACTTCCCCTTTCAGTGGAA	0.485													A	43054587	-	A	43054586	7	5	248	1	0	1	1	0	0	0	0	0	7088	668	24	0	1852	0	HGSNAT	8	43054586	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	759576	43054586	103309436	772	122779	635	2									
HGSNAT	138050	broad.mit.edu	37	chr8	43054587	43054588	+	Frame_Shift_Ins	INS	-	-	A													gtttgagaactacttcccctINSttcagtggaagctgaaggac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:43054586_43054587C>CA	uc003xpx.4	+	17	1830_1831	c.1782_1783C>CA	c.(1780-1785)ccctttfs	p.P594fs		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	622					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)			ACTACTTCCCCTTTCAGTGGAA	0.485													A	43054588	-	A	43054587	7	5	248	1	0	1	1	0	0	0	0	0	7088	1609	56	0	1853	0	HGSNAT	8	43054587	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	43054587	103309435	773	122780	635	2									
KIAA0146	23514	broad.mit.edu	37	chr8	48309123	48309123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaccattttgcatacacCtcagaaacccacagctaagt	6	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:48309123C>A	uc003xqd.2	+	6	722	c.713C>A	c.(712-714)CCT>CAT	p.P238H	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.P238H|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.P168H|KIAA0146_uc011ldd.1_Missense_Mutation_p.P178H|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	238											0		Lung NSC(58;0.175)				TTGCATACACCTCAGAAACCC	0.378													A	48309123	C	A	48309123	3	1	248	1	0	0	0	0	1	0	0	0	8157	681	24	5	735	5	KIAA0146	8	48309123	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5254536	48309123	98054899	774	122781											
PRKDC	5591	broad.mit.edu	37	chr8	48772185	48772185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcacccgtctccgaaaaCgaccagtggcaggtctaggg	12	12	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:48772185C>T	uc003xqi.2	-	47	6251	c.6194G>A	c.(6193-6195)CGT>CAT	p.R2065H	PRKDC_uc003xqj.2_Missense_Mutation_p.R2065H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2065					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTCCGAAAACGACCAGTGGC	0.458								NHEJ					T	48772185	C	T	48772185	3	4	248	1	0	0	0	0	1	0	0	0	12521	536	19	1	6356	1	PRKDC	8	48772185	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	463062	48772185	97591837	775	122782											
SNTG1	54212	broad.mit.edu	37	chr8	51449331	51449331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatccctctacttcattcgCgcttctctcagtatgtgccc	6	15	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:51449331C>T	uc010lxy.1	+	12	1014	c.643C>T	c.(643-645)CGC>TGC	p.R215C	SNTG1_uc003xqs.1_Missense_Mutation_p.R215C|SNTG1_uc010lxz.1_Missense_Mutation_p.R215C|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	215					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		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)				ACTTCATTCGCGCTTCTCTCA	0.488													T	51449331	C	T	51449331	3	4	248	1	0	0	0	0	1	0	0	0	14874	768	27	1	677	1	SNTG1	8	51449331	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2677146	51449331	94914691	776	122783											
PXDNL	137902	broad.mit.edu	37	chr8	52320920	52320920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccttgattattctggaCggtgaaaagagcgctttatg	10	8	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:52320920C>T	uc003xqu.3	-	17	3365	c.3264G>A	c.(3262-3264)CCG>CCA	p.P1088P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1088					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P287P(1)		ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTATTCTGGACGGTGAAAAGA	0.517													T	52320920	C	T	52320920	2	4	248	1	0	0	0	0	0	0	0	1	12848	523	19	1		1	PXDNL	8	52320920	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	871589	52320920	94043102	777	122784											
PXDNL	137902	broad.mit.edu	37	chr8	52321557	52321557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagactgaatccaccgtcGcagagggacggccgctggca	13	13	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:52321557G>A	uc003xqu.3	-	17	2728	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	876					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCCACCGTCGCAGAGGGACG	0.657													A	52321557	G	A	52321557	3	1	248	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1792	1	PXDNL	8	52321557	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	637	52321557	94042465	778	122785											
SDR16C5	195814	broad.mit.edu	37	chr8	57224836	57224836	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatggaaacatcgccgacTtcttttttaacctgaattga	8	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:57224836T>C	uc003xsy.1	-	3	983	c.345A>G	c.(343-345)GAA>GAG	p.E115E	SDR16C5_uc010lyk.1_Silent_p.E115E|SDR16C5_uc010lyl.1_Intron	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	115					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CATCGCCGACTTCTTTTTTAA	0.373													C	57224836	T	C	57224836	2	2	248	1	0	0	0	0	0	0	0	1	13971	1606	56	3		3	SDR16C5	8	57224836	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	4903279	57224836	89139186	779	122786											
CHD7	55636	broad.mit.edu	37	chr8	61654248	61654248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcatctgatggatcagcCgaacagaatgatgagcaaca	11	8	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:61654248C>T	uc003xue.2	+	2	734	c.257C>T	c.(256-258)CCG>CTG	p.P86L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	86					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			ATGGATCAGCCGAACAGAATG	0.483													T	61654248	C	T	61654248	3	4	248	1	0	0	0	0	1	0	0	0	3330	652	23	1	259	1	CHD7	8	61654248	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4429412	61654248	84709774	780	122787											
CHD7	55636	broad.mit.edu	37	chr8	61777711	61777711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgctgctgtggcctccaCgtcagggatcaaccctttgc	11	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:61777711C>T	uc003xue.2	+	38	8690	c.8213C>T	c.(8212-8214)ACG>ATG	p.T2738M		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2738					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GTGGCCTCCACGTCAGGGATC	0.612													T	61777711	C	T	61777711	3	4	248	1	0	0	0	0	1	0	0	0	3330	536	19	1	8359	1	CHD7	8	61777711	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	123463	61777711	84586311	781	122788											
PREX2	80243	broad.mit.edu	37	chr8	69009291	69009291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactatggccatcattgatgGgaagaaggagcatgtgagtc	13	7	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:69009291G>A	uc003xxv.1	+	22	2435	c.2408G>A	c.(2407-2409)GGG>GAG	p.G803E	PREX2_uc003xxu.1_Missense_Mutation_p.G803E|PREX2_uc011lez.1_Missense_Mutation_p.G738E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	803					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATCATTGATGGGAAGAAGGAG	0.423													A	69009291	G	A	69009291	3	1	248	1	0	0	0	0	1	0	0	0	12477	1232	43	4	2494	4	PREX2	8	69009291	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7231580	69009291	77354731	782	122789											
TRAM1	23471	broad.mit.edu	37	chr8	71512313	71512313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgatagaagcttttgccGttatctacaaagaaggaaaa	8	5	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:71512313G>A	uc003xyo.1	-	2	298	c.128C>T	c.(127-129)ACG>ATG	p.T43M	TRAM1_uc011lfc.1_Missense_Mutation_p.T12M	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	43	Helical; (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGCTTTTGCCGTTATCTACAA	0.363													A	71512313	G	A	71512313	3	1	248	1	0	0	0	0	1	0	0	0	16448	1145	40	1	1036	1	TRAM1	8	71512313	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2503022	71512313	74851709	783	122790											
EYA1	2138	broad.mit.edu	37	chr8	72127733	72127733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgttactaaaatattcaCacagtttgtcctatgagaac	6	7	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:72127733C>T	uc003xys.3	-	15	1773	c.1486G>A	c.(1486-1488)GTG>ATG	p.V496M	EYA1_uc003xyr.3_Missense_Mutation_p.V461M|EYA1_uc003xyt.3_Missense_Mutation_p.V463M|EYA1_uc010lzf.2_Missense_Mutation_p.V423M|EYA1_uc003xyu.2_Missense_Mutation_p.V496M|EYA1_uc011lfe.1_Missense_Mutation_p.V490M|EYA1_uc003xyv.2_Missense_Mutation_p.V374M	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	496					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			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAAATATTCACACAGTTTGTC	0.378													T	72127733	C	T	72127733	3	4	248	1	0	0	0	0	1	0	0	0	5328	478	17	4	304	4	EYA1	8	72127733	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	615420	72127733	74236289	784	122791											
ZFHX4	79776	broad.mit.edu	37	chr8	77617547	77617547	+	Frame_Shift_Del	DEL	G	G	-													ccaaaggctgaagtgaatctGggggggctgtctagtttagt					rs13250763		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:77617547delG	uc003yav.2	+	2	1611	c.1224delG	c.(1222-1224)CTGfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.L408fs|ZFHX4_uc003yau.1_Frame_Shift_Del_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTGAATCTGGGGGGGCTGT	0.537										HNSCC(33;0.089)			-	77617547	G	-	77617547	7	5	248	1	0	1	0	1	0	0	0	0	17632	1335	47	0	1226	0	ZFHX4	8	77617547	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	5489814	77617547	68746475	785	122792											
FAM164A	51101	broad.mit.edu	37	chr8	79601500	79601500	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagattcaatgaaaaTgcagctgatagacatataaa	9	5	1	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:79601500T>C	uc003ybd.2	+	5	498	c.396T>C	c.(394-396)AAT>AAC	p.N132N		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	132										ovary(1)	1						TCAATGAAAATGCAGCTGATA	0.323													C	79601500	T	C	79601500	2	2	248	1	0	0	0	0	0	0	0	1	5478	1461	51	3		3	FAM164A	8	79601500	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1983953	79601500	66762522	786	122793											
SNX16	64089	broad.mit.edu	37	chr8	82751883	82751883	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttccatcacttcataaccCagtatagtaggtgtagatgg	8	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:82751883C>A	uc011lft.1	-	3	846	c.339G>T	c.(337-339)CTG>CTT	p.L113L	SNX16_uc003ycn.2_Silent_p.L113L|SNX16_uc003yco.2_Silent_p.L113L	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a	113	PX.				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			ovary(1)|pancreas(1)	2						CTTCATAACCCAGTATAGTAG	0.373													A	82751883	C	A	82751883	2	1	248	1	0	0	0	0	0	0	0	1	14887	581	21	5		5	SNX16	8	82751883	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3150383	82751883	63612139	787	122794											
RALYL	138046	broad.mit.edu	37	chr8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatagttggatgttccGttcacaaaggttatgcattt	9	5	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:85441713G>A	uc003ycq.3	+	3	573	c.157G>A	c.(157-159)GTT>ATT	p.V53I	RALYL_uc003ycr.3_Missense_Mutation_p.V53I|RALYL_uc003ycs.3_Missense_Mutation_p.V53I|RALYL_uc010lzy.2_Missense_Mutation_p.V53I|RALYL_uc003yct.3_Missense_Mutation_p.V66I	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	53	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						TGGATGTTCCGTTCACAAAGG	0.438													A	85441713	G	A	85441713	3	1	248	1	0	0	0	0	1	0	0	0	13020	1145	40	1	202	1	RALYL	8	85441713	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2689830	85441713	60922309	788	122795											
SLC26A7	115111	broad.mit.edu	37	chr8	92378867	92378868	+	Frame_Shift_Ins	INS	-	-	A													cgcttgttttcctgaatgcaINSaaaaaattttatactgattt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:92378866_92378867C>CA	uc003yez.3	+	13	1786_1787	c.1547_1548C>CA	c.(1546-1548)gcafs	p.A516fs	SLC26A7_uc003yex.3_Frame_Shift_Ins_p.A516fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Ins_p.A516fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	516	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCTGAATGCAAAAAAATTTT	0.347													A	92378868	-	A	92378867	7	5	248	1	0	1	1	0	0	0	0	0	14522	117	5	0	1598	0	SLC26A7	8	92378867	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	6937154	92378867	53985155	789	122796											
CDH17	1015	broad.mit.edu	37	chr8	95182766	95182766	+	Frame_Shift_Del	DEL	A	A	-													ctcatcctttgcaactgcatAaaaaacatactacaacagga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:95182766delA	uc003ygh.2	-	9	1050	c.925delT	c.(925-927)TATfs	p.Y309fs	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Frame_Shift_Del_p.Y309fs	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	309	Extracellular (Potential).|Cadherin 3.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAACTGCATAAAAAACATAC	0.373													-	95182766	A	-	95182766	7	5	248	1	0	1	0	1	0	0	0	0	3102	362	13	0	1613	0	CDH17	8	95182766	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	2803899	95182766	51181256	790	122797											
POP1	10940	broad.mit.edu	37	chr8	99142350	99142350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacatctggcacgccaagCggtttcatatggtcaagaag	10	11	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:99142350C>T	uc003yij.3	+	5	731	c.631C>T	c.(631-633)CGG>TGG	p.R211W	POP1_uc011lgv.1_Missense_Mutation_p.R211W|POP1_uc003yik.2_Missense_Mutation_p.R211W	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	211					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCACGCCAAGCGGTTTCATAT	0.502													T	99142350	C	T	99142350	3	4	248	1	0	0	0	0	1	0	0	0	12251	759	27	1	645	1	POP1	8	99142350	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3959584	99142350	47221672	791	122798											
SPAG1	6674	broad.mit.edu	37	chr8	101232550	101232550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaaacctcttctgaggCgggcgatggcctatgaaact	11	10	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:101232550C>T	uc003yjh.1	+	13	1665	c.1579C>T	c.(1579-1581)CGG>TGG	p.R527W	SPAG1_uc003yji.1_Missense_Mutation_p.R527W	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	527	TPR 6.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	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)		TCTTCTGAGGCGGGCGATGGC	0.398													T	101232550	C	T	101232550	3	4	248	1	0	0	0	0	1	0	0	0	14975	759	27	1	1625	1	SPAG1	8	101232550	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2090200	101232550	45131472	792	122799											
RIMS2	9699	broad.mit.edu	37	chr8	104948865	104948865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catttattctccagtccaccGaagagaatttcgggaacgaa	8	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:104948865G>A	uc003yls.2	+	11	2037	c.1796G>A	c.(1795-1797)CGA>CAA	p.R599Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R821Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R660Q|RIMS2_uc003ylt.2_Missense_Mutation_p.R206Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	883	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCCACCGAAGAGAATTT	0.388										HNSCC(12;0.0054)			A	104948865	G	A	104948865	3	1	248	1	0	0	0	0	1	0	0	0	13368	1058	37	1	2638	1	RIMS2	8	104948865	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3716315	104948865	41415157	793	122800											
RIMS2	9699	broad.mit.edu	37	chr8	105261777	105261777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaaatcatccgggccCgtggccttgttgtaaaacca	11	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:105261777C>T	uc003yls.2	+	26	3947	c.3706C>T	c.(3706-3708)CGT>TGT	p.R1236C	RIMS2_uc003ylp.2_Missense_Mutation_p.R1218C|RIMS2_uc003ylw.2_Missense_Mutation_p.R1225C|RIMS2_uc003ylq.2_Missense_Mutation_p.R1032C|RIMS2_uc003ylr.2_Missense_Mutation_p.R1057C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1280	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATCCGGGCCCGTGGCCTTGT	0.393										HNSCC(12;0.0054)			T	105261777	C	T	105261777	3	4	248	1	0	0	0	0	1	0	0	0	13368	652	23	1	3934	1	RIMS2	8	105261777	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	312912	105261777	41102245	794	122801											
SYBU	55638	broad.mit.edu	37	chr8	110655088	110655088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgttgttggggcataTggggccgaagaatcaaccgg	16	7	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:110655088T>C	uc003ynj.3	-	2	261	c.98A>G	c.(97-99)CAT>CGT	p.H33R	SYBU_uc003yni.3_Missense_Mutation_p.H30R|SYBU_uc003ynk.3_Intron|SYBU_uc010mco.2_Missense_Mutation_p.H32R|SYBU_uc003ynl.3_Missense_Mutation_p.H32R|SYBU_uc010mcp.2_Missense_Mutation_p.H33R|SYBU_uc010mcq.2_Missense_Mutation_p.H33R|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Missense_Mutation_p.H33R|SYBU_uc003ynm.3_Missense_Mutation_p.H32R|SYBU_uc003ynn.3_Missense_Mutation_p.H32R|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Missense_Mutation_p.H33R|SYBU_uc010mcu.2_Missense_Mutation_p.H32R|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Missense_Mutation_p.H33R|uc003ynq.1_5'Flank	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	33	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TTGGGGCATATGGGGCCGAAG	0.512													C	110655088	T	C	110655088	3	2	248	1	0	0	0	0	1	0	0	0	15424	1464	51	3	1917	3	SYBU	8	110655088	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	5393311	110655088	35708934	795	122802											
TRPS1	7227	broad.mit.edu	37	chr8	116631681	116631682	+	Frame_Shift_Ins	INS	-	-	T													gtcattcaccagtaagtcagINSttttggatttattcagtctt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:116631681_116631682insT	uc003ynz.2	-	2	1063_1064	c.604_605insA	c.(604-606)ACTfs	p.T202fs	TRPS1_uc011lhy.1_Frame_Shift_Ins_p.T206fs|TRPS1_uc003yny.2_Frame_Shift_Ins_p.T215fs|TRPS1_uc010mcy.2_Frame_Shift_Ins_p.T202fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	202					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			CAGTAAGTCAGTTTTGGATTTA	0.47									Langer-Giedion_syndrome				T	116631682	-	T	116631681	7	5	248	1	0	1	1	0	0	0	0	0	16590	1029	36	0	3260	0	TRPS1	8	116631681	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	5976593	116631681	29732341	796	122803	636	2									
TRPS1	7227	broad.mit.edu	37	chr8	116631682	116631683	+	Frame_Shift_Ins	INS	-	-	T													tcattcaccagtaagtcagtINStttggatttattcagtctta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:116631681_116631682G>GT	uc003yny.3	-	2	1221_1222	c.643_644C>AC	c.(643-645)actfs	p.T215fs	TRPS1_uc011lhy.2_Frame_Shift_Ins_p.T206fs|TRPS1_uc003ynz.3_Frame_Shift_Ins_p.T202fs|TRPS1_uc010mcy.3_Frame_Shift_Ins_p.T202fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	202					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|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)			CAGTAAGTCAGTTTTGGATTTA	0.47									Langer-Giedion syndrome				T	116631683	-	T	116631682	7	5	248	1	0	1	1	0	0	0	0	0	16590	1725	60	0	3261	0	TRPS1	8	116631682	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	116631682	29732340	797	122804	636	2									
TNFRSF11B	4982	broad.mit.edu	37	chr8	119938902	119938902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacactaagccagttaggCgtaaactttgtaggaacagc	10	8	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:119938902C>T	uc003yon.3	-	4	971	c.648G>A	c.(646-648)ACG>ACA	p.T216T	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	216	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	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)			GCCAGTTAGGCGTAAACTTTG	0.428													T	119938902	C	T	119938902	2	4	248	1	0	0	0	0	0	0	0	1	16282	755	27	1		1	TNFRSF11B	8	119938902	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3307220	119938902	26425120	798	122805											
FAM91A1	157769	broad.mit.edu	37	chr8	124810453	124810453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcaccaatgaaatccGgcctgtcagcagctgcaccc	7	18	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:124810453G>A	uc003yqv.2	+	16	1596	c.1535G>A	c.(1534-1536)CGG>CAG	p.R512Q	FAM91A1_uc011lik.1_Missense_Mutation_p.R512Q|FAM91A1_uc011lil.1_Missense_Mutation_p.R270Q	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	512										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AATGAAATCCGGCCTGTCAGC	0.473													A	124810453	G	A	124810453	3	1	248	1	0	0	0	0	1	0	0	0	5651	1116	39	1	1597	1	FAM91A1	8	124810453	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4871551	124810453	21553569	799	122806											
TG	7038	broad.mit.edu	37	chr8	133900416	133900416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagttgtaccaacgatgGgaggctcagaacaagggcca	13	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:133900416G>T	uc003ytw.2	+	10	2405	c.2364G>T	c.(2362-2364)TGG>TGT	p.W788C		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	788	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		ACCAACGATGGGAGGCTCAGA	0.532													T	133900416	G	T	133900416	3	4	248	1	0	0	0	0	1	0	0	0	15810	1241	43	5	2402	5	TG	8	133900416	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9089963	133900416	12463606	800	122807											
COL22A1	169044	broad.mit.edu	37	chr8	139626111	139626111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcaaagcaaaactcaccGgtgggccccttggtccttgg	12	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:139626111G>A	uc003yvd.2	-	56	4424	c.3977C>T	c.(3976-3978)CCG>CTG	p.P1326L	COL22A1_uc011ljo.1_Missense_Mutation_p.P606L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1326	Pro-rich.|Gly-rich.|Collagen-like 13.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			AAAACTCACCGGTGGGCCCCT	0.403										HNSCC(7;0.00092)			A	139626111	G	A	139626111	3	1	248	1	0	0	0	0	1	0	0	0	3681	1130	39	1	943	1	COL22A1	8	139626111	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5725695	139626111	6737911	801	122808											
SLC45A4	57210	broad.mit.edu	37	chr8	142228274	142228274	+	Frame_Shift_Del	DEL	C	C	-													gcgcaccgtggtctcgccctCcccctcctcactctcggtgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:142228274delC	uc003ywd.1	-	4	1620	c.1312delG	c.(1312-1314)GAGfs	p.E438fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.E438fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.E436fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	489					transport	integral to membrane				ovary(2)	2	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)			GTCTCGCCCTCCCCCTCCTCA	0.672													-	142228274	C	-	142228274	7	5	248	1	0	1	0	1	0	0	0	0	14643	864	30	0	1104	0	SLC45A4	8	142228274	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	2602163	142228274	4135748	802	122809											
ARC	23237	broad.mit.edu	37	chr8	143694777	143694777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcaggtccagctcgcGctggatggcctctcgggaca	15	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:143694777G>A	uc003ywn.1	-	1	1057	c.856C>T	c.(856-858)CGC>TGC	p.R286C		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	286					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCCAGCTCGCGCTGGATGGCC	0.642													A	143694777	G	A	143694777	3	1	248	1	0	0	0	0	1	0	0	0	841	1087	38	1	338	1	ARC	8	143694777	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1466503	143694777	2669245	803	122810											
ZNF696	79943	broad.mit.edu	37	chr8	144378685	144378685	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagccagagctccaacctCctccagcaccagcgcgtgca	8	18	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144378685C>T	uc003yxy.3	+	3	1249	c.840C>T	c.(838-840)CTC>CTT	p.L280L		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	280	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			GCTCCAACCTCCTCCAGCACC	0.721													T	144378685	C	T	144378685	2	4	248	1	0	0	0	0	0	0	0	1	18096	842	30	4		4	ZNF696	8	144378685	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	683908	144378685	1985337	804	122811											
TOP1MT	116447	broad.mit.edu	37	chr8	144392346	144392346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcagctgcgccagctgcTcctgcagcttctccaggagc	10	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144392346T>G	uc003yxz.2	-	13	1614	c.1595A>C	c.(1594-1596)GAG>GCG	p.E532A	TOP1MT_uc011lkd.1_Missense_Mutation_p.E434A|TOP1MT_uc011lke.1_Missense_Mutation_p.E434A|TOP1MT_uc010mfb.2_Missense_Mutation_p.E434A|TOP1MT_uc011lkf.1_Missense_Mutation_p.E327A	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	532					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	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)	CGCCAGCTGCTCCTGCAGCTT	0.647													G	144392346	T	G	144392346	3	3	248	1	0	0	0	0	1	0	0	0	16361	1551	54	5	218	5	TOP1MT	8	144392346	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	13661	144392346	1971676	805	122812											
ZNF623	9831	broad.mit.edu	37	chr8	144732637	144732637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtctcattgagcatcagCgcgttcattcaggagaaaag	11	9	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144732637C>T	uc003yzd.2	+	1	684	c.595C>T	c.(595-597)CGC>TGC	p.R199C	ZNF623_uc011lkp.1_Missense_Mutation_p.R159C|ZNF623_uc003yzc.2_Missense_Mutation_p.R159C	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	199	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			TGAGCATCAGCGCGTTCATTC	0.473													T	144732637	C	T	144732637	3	4	248	1	0	0	0	0	1	0	0	0	18044	768	27	1	597	1	ZNF623	8	144732637	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	340291	144732637	1631385	806	122813											
NRBP2	340371	broad.mit.edu	37	chr8	144919335	144919335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagttcatcagtgggTagattccattcctggggaca	11	9	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144919335T>C	uc011lkt.1	-	14	1279	c.1139A>G	c.(1138-1140)TAC>TGC	p.Y380C	NRBP2_uc003yzv.2_Missense_Mutation_p.Y137C|NRBP2_uc003yzz.1_5'UTR|NRBP2_uc003yzw.2_Missense_Mutation_p.Y172C|NRBP2_uc010mfl.2_Missense_Mutation_p.Y172C|NRBP2_uc010mfm.2_Missense_Mutation_p.Y137C|NRBP2_uc011lks.1_Missense_Mutation_p.Y137C|NRBP2_uc003yzy.2_Missense_Mutation_p.Y137C	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	380					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	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)			CATCAGTGGGTAGATTCCATT	0.632													C	144919335	T	C	144919335	3	2	248	1	0	0	0	0	1	0	0	0	10643	1638	57	3	386	3	NRBP2	8	144919335	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	186698	144919335	1444687	807	122814											
PLEC	5339	broad.mit.edu	37	chr8	144996253	144996253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcctgctgccgccgcTgctgctccagctgctgcagc	11	19	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144996253T>C	uc003zaf.1	-	32	8317	c.8147A>G	c.(8146-8148)CAG>CGG	p.Q2716R	PLEC_uc003zab.1_Missense_Mutation_p.Q2579R|PLEC_uc003zac.1_Missense_Mutation_p.Q2583R|PLEC_uc003zad.2_Missense_Mutation_p.Q2579R|PLEC_uc003zae.1_Missense_Mutation_p.Q2547R|PLEC_uc003zag.1_Missense_Mutation_p.Q2557R|PLEC_uc003zah.2_Missense_Mutation_p.Q2565R|PLEC_uc003zaj.2_Missense_Mutation_p.Q2606R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2716	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ctgccgccgctgctgctccag	0.537													C	144996253	T	C	144996253	3	2	248	1	0	0	0	0	1	0	0	0	12052	1580	55	3	5911	3	PLEC	8	144996253	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	76918	144996253	1367769	808	122815											
PLEC	5339	broad.mit.edu	37	chr8	144998339	144998339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcctccacctgccgccGctgcctcagcgtgtcctcca	7	22	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144998339G>A	uc003zaf.1	-	31	6339	c.6169C>T	c.(6169-6171)CGG>TGG	p.R2057W	PLEC_uc003zab.1_Missense_Mutation_p.R1920W|PLEC_uc003zac.1_Missense_Mutation_p.R1924W|PLEC_uc003zad.2_Missense_Mutation_p.R1920W|PLEC_uc003zae.1_Missense_Mutation_p.R1888W|PLEC_uc003zag.1_Missense_Mutation_p.R1898W|PLEC_uc003zah.2_Missense_Mutation_p.R1906W|PLEC_uc003zaj.2_Missense_Mutation_p.R1947W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2057	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACCTGCCGCCGCTGCCTCAGC	0.687													A	144998339	G	A	144998339	3	1	248	1	0	0	0	0	1	0	0	0	12052	1086	38	1	7893	1	PLEC	8	144998339	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2086	144998339	1365683	809	122816											
SPATC1	375686	broad.mit.edu	37	chr8	145101632	145101632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagagtctgggctacaaCgggcgggtgcaccctgcgct	15	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:145101632C>T	uc011lkw.1	+	5	1653	c.1551C>T	c.(1549-1551)AAC>AAT	p.N517N	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	517										ovary(1)|central_nervous_system(1)	2	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)			TGGGCTACAACGGGCGGGTGC	0.647													T	145101632	C	T	145101632	2	4	248	1	0	0	0	0	0	0	0	1	15016	535	19	1		1	SPATC1	8	145101632	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	103293	145101632	1262390	810	122817											
FOXH1	8928	broad.mit.edu	37	chr8	145700011	145700012	+	Frame_Shift_Ins	INS	-	-	C													gggttgagggcccgatggctINScccccctgcacagtctcccc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:145700011_145700012insC	uc003zdc.2	-	3	1286_1287	c.707_708insG	c.(706-708)GGAfs	p.G236fs		NM_003923	NP_003914	O75593	FOXH1_HUMAN	forkhead box H1	236					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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				0	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;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCCGATGGCTCCCCCCTGCAC	0.698													C	145700012	-	C	145700011	7	5	248	1	0	1	1	0	0	0	0	0	6008	1538	54	0	393	0	FOXH1	8	145700011	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	598379	145700011	664011	811	122818											
LRRC14	9684	broad.mit.edu	37	chr8	145746112	145746112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggcgaggacaacttcCgctacttccttgcccagatg	11	12	0	1	rs140061110		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:145746112C>T	uc003zdk.1	+	3	966	c.820C>T	c.(820-822)CGC>TGC	p.R274C	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R274C|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	274											0	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)			GGACAACTTCCGCTACTTCCT	0.632													T	145746112	C	T	145746112	3	4	248	1	0	0	0	0	1	0	0	0	8968	652	23	1	826	1	LRRC14	8	145746112	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	46101	145746112	617910	812	122819											
ZNF7	7553	broad.mit.edu	37	chr8	146067178	146067179	+	Frame_Shift_Ins	INS	-	-	A													agcagatgtcaagaatgccaINSaaaaaagttatctgactgct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:146067177_146067178C>CA	uc010mge.3	+	4	855_856	c.718_719C>CA	c.(718-720)caafs	p.Q240fs	ZNF7_uc003zeg.4_Frame_Shift_Ins_p.Q229fs|ZNF7_uc011lln.2_Frame_Shift_Ins_p.Q133fs|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Frame_Shift_Ins_p.Q133fs|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	229					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	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)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	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)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCAAGAATGCCAAAAAAAGTTA	0.455													A	146067179	-	A	146067178	7	5	248	1	0	1	1	0	0	0	0	0	18099	130	5	0	700	0	ZNF7	8	146067178	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	321066	146067178	296844	813	122820											
JAK2	3717	broad.mit.edu	37	chr9	5054662	5054662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatttcgcagatttattcaGcaattcagccaatgcaaagc	7	9	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:5054662G>A	uc010mhm.2	+	6	827	c.714G>A	c.(712-714)CAG>CAA	p.Q238Q	JAK2_uc003ziw.2_Silent_p.Q238Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	238	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				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		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	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)		GATTTATTCAGCAATTCAGCC	0.373		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				A	5054662	G	A	5054662	2	1	248	1	0	0	0	0	0	0	0	1	7938	962	34	2		2	JAK2	9	5054662	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		5054662	136158769	814	122821											
BNC2	54796	broad.mit.edu	37	chr9	16437180	16437180	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtagcccatttggaggcaAccctagcagtggtgctgaga	13	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:16437180A>C	uc003zml.2	-	6	1152	c.1012T>G	c.(1012-1014)TTG>GTG	p.L338V	BNC2_uc011lmw.1_Missense_Mutation_p.L243V|BNC2_uc003zmm.2_Missense_Mutation_p.L296V|BNC2_uc003zmq.1_Missense_Mutation_p.L352V|BNC2_uc003zmr.1_Missense_Mutation_p.L375V|BNC2_uc003zmp.1_Missense_Mutation_p.L366V|BNC2_uc010mij.1_Missense_Mutation_p.L260V|BNC2_uc011lmv.1_Missense_Mutation_p.L164V|BNC2_uc003zmo.1_Missense_Mutation_p.L260V|BNC2_uc003zmj.2_Missense_Mutation_p.L103V|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.L103V|BNC2_uc003zmn.1_Missense_Mutation_p.L103V	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TTTGGAGGCAACCCTAGCAGT	0.483													C	16437180	A	C	16437180	3	2	248	1	0	0	0	0	1	0	0	0	1475	40	2	5	2295	5	BNC2	9	16437180	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	11382518	16437180	124776251	815	122822											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18657700	18657700	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatcaacccatcatccacCgatggagggagacggatttc	9	12	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:18657700C>T	uc003zne.3	+	8	1025	c.898C>T	c.(898-900)CGA>TGA	p.R300*	ADAMTSL1_uc003znb.2_Nonsense_Mutation_p.R300*|ADAMTSL1_uc003znc.3_Nonsense_Mutation_p.R300*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	300						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CATCATCCACCGATGGAGGGA	0.463													T	18657700	C	T	18657700	4	4	248	1	0	0	0	0	0	1	0	0	274	644	23	1	928	1	ADAMTSL1	9	18657700	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2220520	18657700	122555731	816	122823											
TEK	7010	broad.mit.edu	37	chr9	27197501	27197501	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcggtgctacttaacaacTtacatcccagggagcagtac	8	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:27197501T>A	uc003zqi.3	+	12	2255	c.1813T>A	c.(1813-1815)TTA>ATA	p.L605I	TEK_uc011lno.1_Missense_Mutation_p.L562I|TEK_uc011lnp.1_Missense_Mutation_p.L458I|TEK_uc003zqj.1_Missense_Mutation_p.L539I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	605	Extracellular (Potential).|Fibronectin type-III 2.				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			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACTTAACAACTTACATCCCAG	0.463													A	27197501	T	A	27197501	3	1	248	1	0	0	0	0	1	0	0	0	15748	1606	56	5	1859	5	TEK	9	27197501	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	8539801	27197501	114015930	817	122824											
LINGO2	158038	broad.mit.edu	37	chr9	27949356	27949356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaggaaatcacaggctgCgggtctccatctgcactgca	10	14	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:27949356C>T	uc003zqu.1	-	2	1508	c.1314G>A	c.(1312-1314)CCG>CCA	p.P438P	LINGO2_uc010mjf.1_Silent_p.P438P|LINGO2_uc003zqv.1_Silent_p.P438P	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		TCACAGGCTGCGGGTCTCCAT	0.517													T	27949356	C	T	27949356	2	4	248	1	0	0	0	0	0	0	0	1	8815	755	27	1		1	LINGO2	9	27949356	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	751855	27949356	113264075	818	122825											
NOL6	65083	broad.mit.edu	37	chr9	33467203	33467203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcttcccgaatggctcCgtcctggaaacgccgaagct	10	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:33467203C>T	uc003zsz.2	-	14	1884	c.1783G>A	c.(1783-1785)GGA>AGA	p.G595R	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.G595R|NOL6_uc010mjv.2_Missense_Mutation_p.G592R|NOL6_uc011lob.1_Missense_Mutation_p.G543R|NOL6_uc003ztb.1_Missense_Mutation_p.G595R	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	595					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CGAATGGCTCCGTCCTGGAAA	0.602											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33467203	C	T	33467203	3	4	248	1	0	0	0	0	1	0	0	0	10525	661	23	1	1709	1	NOL6	9	33467203	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5517847	33467203	107746228	819	122826											
UBAP2	55833	broad.mit.edu	37	chr9	33988989	33988989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattctctgccacgattgcCgcctcttcctttccggttgt	7	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:33988989C>T	uc003ztq.1	-	5	537	c.424G>A	c.(424-426)GGC>AGC	p.G142S	UBAP2_uc011loc.1_Missense_Mutation_p.G104S|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.G67S|UBAP2_uc011log.1_Missense_Mutation_p.G141S|UBAP2_uc003ztr.2_Missense_Mutation_p.G67S	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	142										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCACGATTGCCGCCTCTTCCT	0.318													T	33988989	C	T	33988989	3	4	248	1	0	0	0	0	1	0	0	0	16834	652	23	1	3035	1	UBAP2	9	33988989	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	521786	33988989	107224442	820	122827											
TESK1	7016	broad.mit.edu	37	chr9	35609004	35609004	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgagtcaaccccttctcActacgggaagacctcagggg	10	14	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35609004A>G	uc003zxa.2	+	10	1482	c.1146A>G	c.(1144-1146)TCA>TCG	p.S382S	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Silent_p.S222S	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	382					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCCTTCTCACTACGGGAAG	0.587													G	35609004	A	G	35609004	2	3	248	1	0	0	0	0	0	0	0	1	15764	146	6	3		3	TESK1	9	35609004	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1620015	35609004	105604427	821	122828											
TLN1	7094	broad.mit.edu	37	chr9	35714857	35714857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtggctgaggctgcaGcctgcttggctgcatgctgt	15	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35714857G>A	uc003zxt.2	-	22	3125	c.2771C>T	c.(2770-2772)GCT>GTT	p.A924V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	924					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGGCTGCAGCCTGCTTGGC	0.632													A	35714857	G	A	35714857	3	1	248	1	0	0	0	0	1	0	0	0	15944	971	34	2	4998	2	TLN1	9	35714857	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	105853	35714857	105498574	822	122829											
TLN1	7094	broad.mit.edu	37	chr9	35720500	35720500	+	Frame_Shift_Del	DEL	T	T	-													cagcccaaagtgatccttgcTttttttctgtaggaaggaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35720499_35720499CT>C	uc003zxt.2	-	11	1568	c.1214_1214AG>G	c.(1213-1215)agcfs	p.S405fs		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	405	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	LIM domain binding|actin binding|insulin receptor 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)			GTGATCCTTGCTTTTTTTCTG	0.463													-	35720500	T	-	35720500	7	5	248	1	0	1	0	1	0	0	0	0	15944	1609	56	0	6596	0	TLN1	9	35720500	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	5643	35720500	105492931	823	122830											
CREB3	10488	broad.mit.edu	37	chr9	35736412	35736412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccgccagcttcgtgccCtccccagtgaggacccttac	9	18	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35736412C>A	uc003zxv.2	+	9	1258	c.805C>A	c.(805-807)CTC>ATC	p.L269I	CREB3_uc010mla.2_Missense_Mutation_p.L188I	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	293	Lumenal (Potential).				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|integral to membrane|nucleus|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|sequence-specific DNA binding transcription factor activity				0	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)		GCTTCGTGCCCTCCCCAGTGA	0.577											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35736412	C	A	35736412	3	1	248	1	0	0	0	0	1	0	0	0	3855	681	24	5	839	5	CREB3	9	35736412	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	15912	35736412	105477019	824	122831											
GBA2	57704	broad.mit.edu	37	chr9	35737837	35737837	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagggacaccatggggctGcatcccattcacagccccca	9	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35737837G>A	uc003zxw.2	-	16	2937	c.2413C>T	c.(2413-2415)CAG>TAG	p.Q805*	GBA2_uc003zxx.1_Nonsense_Mutation_p.Q100*|GBA2_uc011lpb.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpc.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpd.1_Nonsense_Mutation_p.Q811*	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	805	Cytoplasmic (Potential).				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			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCATGGGGCTGCATCCCATTC	0.552													A	35737837	G	A	35737837	4	1	248	1	0	0	0	0	0	1	0	0	6267	1328	46	2	378	2	GBA2	9	35737837	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1425	35737837	105475594	825	122832											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	12	3	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					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			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443													T	70993121	C	T	70993121	4	4	248	1	0	0	0	0	0	1	0	0	11801	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	35255284	70993121	70220310	826	122833											
APBA1	320	broad.mit.edu	37	chr9	72071229	72071229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcctgggatgggtgggaCgcttccacgttctcctggga	14	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:72071229C>T	uc004ahh.2	-	8	1998	c.1722G>A	c.(1720-1722)GCG>GCA	p.A574A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	574	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						ATGGGTGGGACGCTTCCACGT	0.547													T	72071229	C	T	72071229	2	4	248	1	0	0	0	0	0	0	0	1	756	523	19	1		1	APBA1	9	72071229	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1078108	72071229	69142202	827	122834											
C9orf79	286234	broad.mit.edu	37	chr9	90501353	90501353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagattgcaggcatctGgggacctgctacagcctgat	12	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:90501353G>A	uc004app.3	+	4	1986	c.1951G>A	c.(1951-1953)GGG>AGG	p.G651R	C9orf79_uc004apo.1_Missense_Mutation_p.G463R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	651						integral to membrane				ovary(3)	3						GCAGGCATCTGGGGACCTGCT	0.622													A	90501353	G	A	90501353	3	1	248	1	0	0	0	0	1	0	0	0	2497	1348	47	4	1965	4	C9orf79	9	90501353	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	18430124	90501353	50712078	828	122835											
SHC3	53358	broad.mit.edu	37	chr9	91657077	91657077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcagtttcccttctggCgtgctgtagatgtccgagga	13	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:91657077C>T	uc004aqg.2	-	10	1531	c.1224G>A	c.(1222-1224)ACG>ACA	p.T408T		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	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			lung(3)|skin(1)	4						TCCCTTCTGGCGTGCTGTAGA	0.572													T	91657077	C	T	91657077	2	4	248	1	0	0	0	0	0	0	0	1	14272	755	27	1		1	SHC3	9	91657077	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1155724	91657077	49556354	829	122836											
SPTLC1	10558	broad.mit.edu	37	chr9	94809485	94809485	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgatgttgagggcctcAattgctgcagcagctaacag	11	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:94809485A>G	uc004arl.1	-	11	1088	c.1050T>C	c.(1048-1050)ATT>ATC	p.I350I	SPTLC1_uc011ltv.1_Silent_p.I350I	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	350	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGAGGGCCTCAATTGCTGCAG	0.423													G	94809485	A	G	94809485	2	3	248	1	0	0	0	0	0	0	0	1	15122	126	5	3		3	SPTLC1	9	94809485	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3152408	94809485	46403946	830	122837											
SPTLC1	10558	broad.mit.edu	37	chr9	94843197	94843197	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagaaaattaaatgaggcGaagtttatacattcttttcc	6	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:94843197G>A	uc004arl.1	-	4	347	c.309C>T	c.(307-309)TTC>TTT	p.F103F	SPTLC1_uc011ltv.1_Silent_p.F103F|SPTLC1_uc004arm.1_Silent_p.F103F|SPTLC1_uc004arn.1_Silent_p.F103F	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	103	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAAATGAGGCGAAGTTTATAC	0.378													A	94843197	G	A	94843197	2	1	248	1	0	0	0	0	0	0	0	1	15122	1049	37	1		1	SPTLC1	9	94843197	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	33712	94843197	46370234	831	122838											
NOL8	55035	broad.mit.edu	37	chr9	95076596	95076597	+	Frame_Shift_Ins	INS	-	-	T													ttcttctgcacttcttttgcINStttttgcctcgcttccaagg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:95076596_95076597insT	uc004arv.2	-	7	2647_2648	c.2310_2311insA	c.(2308-2313)AAAGCAfs	p.K770fs	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Frame_Shift_Ins_p.K702fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	770_771	Potential.				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						ACTTCTTTTGCTTTTTGCCTCG	0.386													T	95076597	-	T	95076596	7	5	248	1	0	1	1	0	0	0	0	0	10527	797	28	0	1236	0	NOL8	9	95076596	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	233399	95076596	46136835	832	122839	637	2									
NOL8	55035	broad.mit.edu	37	chr9	95076597	95076598	+	Frame_Shift_Ins	INS	-	-	T													tcttctgcacttcttttgctINSttttgcctcgcttccaaggc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:95076596_95076597C>CT	uc022bjx.1	-	6	2647_2648	c.2310_2311G>AG	c.(2308-2313)aaagcafs	p.K770fs	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Frame_Shift_Ins_p.K702fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	770					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTTCTTTTGCTTTTTGCCTCG	0.386													T	95076598	-	T	95076597	7	5	248	1	0	1	1	0	0	0	0	0	10527	1606	56	0	1237	0	NOL8	9	95076597	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	95076597	46136834	833	122840	637	2									
ECM2	1842	broad.mit.edu	37	chr9	95263142	95263142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccatagaaggagacacGgtccatgccatcatcagcaa	9	13	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:95263142G>A	uc004ash.2	-	9	1863	c.1798C>T	c.(1798-1800)CGT>TGT	p.R600C	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.R578C|ECM2_uc011lty.1_Missense_Mutation_p.R600C|ECM2_uc004asg.2_Missense_Mutation_p.R578C|ECM2_uc010mqz.1_Missense_Mutation_p.R22C	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	600	LRR 10.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						AAGGAGACACGGTCCATGCCA	0.433													A	95263142	G	A	95263142	3	1	248	1	0	0	0	0	1	0	0	0	4898	1116	39	1	309	1	ECM2	9	95263142	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	186545	95263142	45950289	834	122841											
PTCH1	5727	broad.mit.edu	37	chr9	98241299	98241299	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctccacatatgtcctctGccaggcctccaggatggctg	9	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:98241299G>A	uc004avk.3	-	8	1386	c.1198C>T	c.(1198-1200)CAG>TAG	p.Q400*	PTCH1_uc010mro.2_Nonsense_Mutation_p.Q249*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.Q249*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.Q249*|PTCH1_uc004avl.3_Nonsense_Mutation_p.Q249*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.Q334*|PTCH1_uc004avm.3_Nonsense_Mutation_p.Q399*|PTCH1_uc010mrs.1_Nonsense_Mutation_p.Q120*	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	400	Extracellular (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TATGTCCTCTGCCAGGCCTCC	0.473									Basal_Cell_Nevus_syndrome				A	98241299	G	A	98241299	4	1	248	1	0	0	0	0	0	1	0	0	12730	1328	46	2	3209	2	PTCH1	9	98241299	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2978157	98241299	42972132	835	122842											
GALNT12	79695	broad.mit.edu	37	chr9	101585627	101585627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggtcaactctccttcGgacagtttacagtgtccttg	9	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:101585627G>A	uc004ayz.2	+	2	461	c.461G>A	c.(460-462)CGG>CAG	p.R154Q		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	154	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ACTCTCCTTCGGACAGTTTAC	0.438													A	101585627	G	A	101585627	3	1	248	1	0	0	0	0	1	0	0	0	6210	1116	39	1	467	1	GALNT12	9	101585627	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3344328	101585627	39627804	836	122843											
RNF20	56254	broad.mit.edu	37	chr9	104302547	104302547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagaaatgttggatcaGcggcaggccattgaagatga	14	7	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:104302547G>A	uc004bbn.2	+	3	282	c.192G>A	c.(190-192)CAG>CAA	p.Q64Q		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	64	Potential.				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			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		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)		TGTTGGATCAGCGGCAGGCCA	0.453													A	104302547	G	A	104302547	2	1	248	1	0	0	0	0	0	0	0	1	13473	962	34	2		2	RNF20	9	104302547	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2716920	104302547	36910884	837	122844											
GRIN3A	116443	broad.mit.edu	37	chr9	104433084	104433084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagagttggccagcagggCacaagccttcatcatctacc	10	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:104433084C>A	uc004bbp.1	-	3	2211	c.1610G>T	c.(1609-1611)TGC>TTC	p.C537F	GRIN3A_uc004bbq.1_Missense_Mutation_p.C537F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	537	Extracellular (Potential).				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			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		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)	GCCAGCAGGGCACAAGCCTTC	0.468													A	104433084	C	A	104433084	3	1	248	1	0	0	0	0	1	0	0	0	6783	710	25	5	1765	5	GRIN3A	9	104433084	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	130537	104433084	36780347	838	122845											
ZNF462	58499	broad.mit.edu	37	chr9	109686948	109686948	+	Frame_Shift_Del	DEL	C	C	-													tgagtggtgcagctaccagaCcccccgccgagaacgctggt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:109686947_109686947AC>A	uc004bcz.3	+	2	1043	c.754_754AC>A	c.(754-756)accfs	p.T252fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Del_p.T100fs|ZNF462_uc004bda.3_Frame_Shift_Del_p.T100fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	252					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						CAGCTACCAGACCCCCCGCCG	0.507													-	109686948	C	-	109686948	7	5	248	1	0	1	0	1	0	0	0	0	17923	507	18	0	761	0	ZNF462	9	109686948	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	5253864	109686948	31526483	839	122846											
C9orf5	23731	broad.mit.edu	37	chr9	111826802	111826802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgatacacgttgttagcCgcagaattcagggctctttg	10	9	2	2	rs138324371	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:111826802C>T	uc004bdt.3	-	10	1610	c.1578G>A	c.(1576-1578)GCG>GCA	p.A526A	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.A518A	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	526						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		CGTTGTTAGCCGCAGAATTCA	0.408													T	111826802	C	T	111826802	2	4	248	1	0	0	0	0	0	0	0	1	2486	639	23	1		1	C9orf5	9	111826802	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2139854	111826802	29386629	840	122847											
EPB41L4B	54566	broad.mit.edu	37	chr9	111965955	111965955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagaccttacactagcgTcctgaagactggatttctta	7	11	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:111965955T>C	uc004bdz.1	-	19	2229	c.1934A>G	c.(1933-1935)GAC>GGC	p.D645G		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	645						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TACACTAGCGTCCTGAAGACT	0.403													C	111965955	T	C	111965955	3	2	248	1	0	0	0	0	1	0	0	0	5156	1667	58	3	800	3	EPB41L4B	9	111965955	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	139153	111965955	29247476	841	122848											
PTPN3	5774	broad.mit.edu	37	chr9	112207523	112207523	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctttgtgacttacattGtacggcataggacgctagaa	9	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:112207523G>A	uc004bed.2	-	7	575	c.463C>T	c.(463-465)CAA>TAA	p.Q155*	PTPN3_uc004beb.2_Nonsense_Mutation_p.Q24*|PTPN3_uc004bec.2_Nonsense_Mutation_p.Q24*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.Q155*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.Q46*	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	155	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			ovary(3)	3						GACTTACATTGTACGGCATAG	0.468													A	112207523	G	A	112207523	4	1	248	1	0	0	0	0	0	1	0	0	12789	1386	48	4	2358	4	PTPN3	9	112207523	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	241568	112207523	29005908	842	122849											
SVEP1	79987	broad.mit.edu	37	chr9	113208197	113208197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttccatagttcatgtcGtcagaggatttcatccagaa	10	8	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:113208197G>A	uc010mtz.2	-	26	4720	c.4383C>T	c.(4381-4383)GAC>GAT	p.D1461D	SVEP1_uc010mua.1_Silent_p.D1461D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1461	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AGTTCATGTCGTCAGAGGATT	0.453													A	113208197	G	A	113208197	2	1	248	1	0	0	0	0	0	0	0	1	15417	1136	40	1		1	SVEP1	9	113208197	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1000674	113208197	28005234	843	122850											
SVEP1	79987	broad.mit.edu	37	chr9	113312289	113312289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctgaatctcgcagtgaCgctgcaattggtctagggtc	11	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:113312289C>T	uc010mtz.2	-	2	964	c.627G>A	c.(625-627)GCG>GCA	p.A209A	SVEP1_uc010mua.1_Silent_p.A209A|SVEP1_uc004beu.2_Silent_p.A209A|SVEP1_uc004bev.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	209	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CTCGCAGTGACGCTGCAATTG	0.453													T	113312289	C	T	113312289	2	4	248	1	0	0	0	0	0	0	0	1	15417	523	19	1		1	SVEP1	9	113312289	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	104092	113312289	27901142	844	122851											
MUSK	4593	broad.mit.edu	37	chr9	113562661	113562661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcaatgagttcctccGcagcatgtcccctcacaccg	7	17	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:113562661G>A	uc004bey.2	+	14	2101	c.2003G>A	c.(2002-2004)CGC>CAC	p.R668H	MUSK_uc004bez.1_Missense_Mutation_p.R248H	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	668	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GAGTTCCTCCGCAGCATGTCC	0.572													A	113562661	G	A	113562661	3	1	248	1	0	0	0	0	1	0	0	0	9989	1087	38	1	2093	1	MUSK	9	113562661	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	250372	113562661	27650770	845	122852											
FKBP15	23307	broad.mit.edu	37	chr9	115932872	115932872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagctcaaactctctcCgtaaggactggaacacctgg	8	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:115932872C>T	uc004bgs.2	-	25	2814	c.2696G>A	c.(2695-2697)CGG>CAG	p.R899Q	FKBP15_uc004bgr.2_Missense_Mutation_p.R336Q|FKBP15_uc011lxc.1_Missense_Mutation_p.R480Q|FKBP15_uc011lxd.1_Missense_Mutation_p.R831Q	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	899					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						AAACTCTCTCCGTAAGGACTG	0.433													T	115932872	C	T	115932872	3	4	248	1	0	0	0	0	1	0	0	0	5905	652	23	1	979	1	FKBP15	9	115932872	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2370211	115932872	25280559	846	122853											
ZNF618	114991	broad.mit.edu	37	chr9	116810996	116810996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcagaacatcgcagagCggctgttgagggtcatgtgt	16	8	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:116810996C>T	uc004bid.2	+	15	1513	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W	ZNF618_uc004bic.2_Missense_Mutation_p.R379W|ZNF618_uc011lxi.1_Missense_Mutation_p.R439W|ZNF618_uc011lxj.1_Missense_Mutation_p.R440W|ZNF618_uc010mvb.2_Missense_Mutation_p.R62W	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATCGCAGAGCGGCTGTTGAG	0.562													T	116810996	C	T	116810996	3	4	248	1	0	0	0	0	1	0	0	0	18039	759	27	1	1189	1	ZNF618	9	116810996	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	878124	116810996	24402435	847	122854											
COL27A1	85301	broad.mit.edu	37	chr9	116930723	116930723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactgtggcacccgccacGcccaccaagccccaaaggac	11	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:116930723G>A	uc011lxl.1	+	3	888	c.888G>A	c.(886-888)ACG>ACA	p.T296T	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.T146T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	296	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CACCCGCCACGCCCACCAAGC	0.667													A	116930723	G	A	116930723	2	1	248	1	0	0	0	0	0	0	0	1	3685	1074	38	1		1	COL27A1	9	116930723	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	119727	116930723	24282708	848	122855											
COL27A1	85301	broad.mit.edu	37	chr9	117031572	117031572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggcctcattgggcaaCgggtaagttgaagcaattta	13	7	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:117031572C>T	uc011lxl.1	+	35	3553	c.3553C>T	c.(3553-3555)CGG>TGG	p.R1185W	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1185	Pro-rich.|Collagen-like 9.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CATTGGGCAACGGGTAAGTTG	0.527													T	117031572	C	T	117031572	3	4	248	1	0	0	0	0	1	0	0	0	3685	527	19	1	3691	1	COL27A1	9	117031572	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	100849	117031572	24181859	849	122856											
DFNB31	25861	broad.mit.edu	37	chr9	117266581	117266581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggttccaccagagacacGtagatgcccacgccgtgctc	10	16	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:117266581G>A	uc004biz.3	-	1	1150	c.501C>T	c.(499-501)TAC>TAT	p.Y167Y	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.Y167Y|DFNB31_uc004bjb.2_Silent_p.Y167Y	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	167	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCAGAGACACGTAGATGCCCA	0.662													A	117266581	G	A	117266581	2	1	248	1	0	0	0	0	0	0	0	1	4455	1140	40	1		1	DFNB31	9	117266581	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	235009	117266581	23946850	850	122857											
DAB2IP	153090	broad.mit.edu	37	chr9	124441045	124441045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagccctcggccgccacGccgttccgggtcacggtaac	13	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:124441045G>A	uc004bln.2	+	2	198	c.129G>A	c.(127-129)ACG>ACA	p.T43T		NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	71					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			ovary(1)|central_nervous_system(1)	2						CGGCCGCCACGCCGTTCCGGG	0.567													A	124441045	G	A	124441045	2	1	248	1	0	0	0	0	0	0	0	1	4219	1074	38	1		1	DAB2IP	9	124441045	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7174464	124441045	16772386	851	122858											
RABGAP1	23637	broad.mit.edu	37	chr9	125827654	125827654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacagtgctatcaccCgggatattaaccgaacattc	8	13	1	0	rs144231846		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:125827654C>T	uc011lzh.1	+	14	1956	c.1822C>T	c.(1822-1824)CGG>TGG	p.R608W	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_5'UTR	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	608	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TGCTATCACCCGGGATATTAA	0.413													T	125827654	C	T	125827654	3	4	248	1	0	0	0	0	1	0	0	0	12964	643	23	1	1872	1	RABGAP1	9	125827654	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1386609	125827654	15385777	852	122859											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					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						AATCTGAGATTAAAAAAAACA	0.398													-	125861042	A	-	125861042	7	5	248	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	33388	125861042	15352389	853	122860											
GARNL3	84253	broad.mit.edu	37	chr9	130027239	130027239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttgttccagctctgtctCggaagacctaggctgtagac	10	10	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:130027239C>T	uc011mae.1	+	1	484	c.83C>T	c.(82-84)TCG>TTG	p.S28L	GARNL3_uc011mad.1_Missense_Mutation_p.S6L	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCTCTGTCTCGGAAGACCTA	0.423													T	130027239	C	T	130027239	3	4	248	1	0	0	0	0	1	0	0	0	6241	893	31	1	85	1	GARNL3	9	130027239	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4166197	130027239	11186192	854	122861											
ZNF79	7633	broad.mit.edu	37	chr9	130207216	130207216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaaaagacccacaccGgggagaagccatataaatgt	8	12	0	2	rs148709335		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:130207216G>A	uc004bqw.3	+	5	1651	c.1237G>A	c.(1237-1239)GGG>AGG	p.G413R	ZNF79_uc011maf.1_Missense_Mutation_p.G389R|ZNF79_uc011mag.1_Missense_Mutation_p.G389R	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						GACCCACACCGGGGAGAAGCC	0.478													A	130207216	G	A	130207216	3	1	248	1	0	0	0	0	1	0	0	0	18158	1116	39	1	1255	1	ZNF79	9	130207216	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	179977	130207216	11006215	855	122862											
LRRC8A	56262	broad.mit.edu	37	chr9	131670817	131670817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggagctgatccccgaCgtgaccatcccgcccagcat	10	16	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:131670817C>T	uc004bwl.3	+	3	1628	c.1374C>T	c.(1372-1374)GAC>GAT	p.D458D	LRRC8A_uc010myp.2_Silent_p.D458D|LRRC8A_uc010myq.2_Silent_p.D458D	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	458	LRR 4.				pre-B cell differentiation	integral to membrane					0						TGATCCCCGACGTGACCATCC	0.622													T	131670817	C	T	131670817	2	4	248	1	0	0	0	0	0	0	0	1	9021	535	19	1		1	LRRC8A	9	131670817	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1463601	131670817	9542614	856	122863											
SH3GLB2	56904	broad.mit.edu	37	chr9	131771452	131771452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagagcacccgagctttgCgggtcccactggcagggggg	16	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:131771452C>T	uc004bwv.2	-	10	1159	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H	SH3GLB2_uc004bww.2_Missense_Mutation_p.R347H|SH3GLB2_uc004bwx.1_Missense_Mutation_p.R338H|SH3GLB2_uc011mbm.1_Missense_Mutation_p.R347H	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	338	SH3.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						CCGAGCTTTGCGGGTCCCACT	0.697													T	131771452	C	T	131771452	3	4	248	1	0	0	0	0	1	0	0	0	14254	768	27	1	182	1	SH3GLB2	9	131771452	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	100635	131771452	9441979	857	122864											
ABL1	25	broad.mit.edu	37	chr9	133759855	133759855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgttccccatggggcCaaggacacggagtggaggtc	15	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:133759855C>T	uc004bzw.2	+	11	2181	c.2178C>T	c.(2176-2178)GCC>GCT	p.A726A	ABL1_uc004bzv.2_Silent_p.A745A	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	726					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			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		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)	CCCATGGGGCCAAGGACACGG	0.637			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								T	133759855	C	T	133759855	2	4	248	1	0	0	0	0	0	0	0	1	92	581	21	4		4	ABL1	9	133759855	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1988403	133759855	7453576	858	122865											
FIBCD1	84929	broad.mit.edu	37	chr9	133805164	133805164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcagcgcctgcagcacCgaggcctgggcgctctccag	13	16	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:133805164C>T	uc004bzz.2	-	2	587	c.342G>A	c.(340-342)TCG>TCA	p.S114S	FIBCD1_uc011mcc.1_Silent_p.S114S|FIBCD1_uc011mcd.1_Silent_p.S122S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	114	Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCTGCAGCACCGAGGCCTGGG	0.706													T	133805164	C	T	133805164	2	4	248	1	0	0	0	0	0	0	0	1	5884	639	23	1		1	FIBCD1	9	133805164	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	45309	133805164	7408267	859	122866											
FIBCD1	84929	broad.mit.edu	37	chr9	133805407	133805407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggccagcagcacggtGcacagcacgtagccgcagct	14	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:133805407G>A	uc004bzz.2	-	2	344	c.99C>T	c.(97-99)TGC>TGT	p.C33C	FIBCD1_uc011mcc.1_Silent_p.C33C|FIBCD1_uc011mcd.1_Silent_p.C41C	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	33	Cytoplasmic (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCAGCACGGTGCACAGCACGT	0.692													A	133805407	G	A	133805407	2	1	248	1	0	0	0	0	0	0	0	1	5884	1311	46	2		2	FIBCD1	9	133805407	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	243	133805407	7408024	860	122867											
C9orf171	389799	broad.mit.edu	37	chr9	135374827	135374827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgacccggaattatatcGcaatgaaccgcggggcggtg	14	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135374827G>A	uc004cbn.2	+	4	520	c.472G>A	c.(472-474)GCA>ACA	p.A158T	C9orf171_uc004cbo.2_Missense_Mutation_p.A122T	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	158										ovary(4)|large_intestine(1)	5						GAATTATATCGCAATGAACCG	0.627													A	135374827	G	A	135374827	3	1	248	1	0	0	0	0	1	0	0	0	2470	1087	38	1	486	1	C9orf171	9	135374827	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1569420	135374827	5838604	861	122868											
DDX31	64794	broad.mit.edu	37	chr9	135505770	135505770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccggtggatgtattctgcAggtgaagatggagcgttgta	15	5	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135505770A>G	uc004cbq.1	-	16	1979	c.1827T>C	c.(1825-1827)CCT>CCC	p.P609P	DDX31_uc010mzu.1_Intron	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	609	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TGTATTCTGCAGGTGAAGATG	0.488													G	135505770	A	G	135505770	2	3	248	1	0	0	0	0	0	0	0	1	4356	175	7	3		3	DDX31	9	135505770	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	130943	135505770	5707661	862	122869											
GFI1B	8328	broad.mit.edu	37	chr9	135862799	135862799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttggccaggatggccccGgcaccaggtaccccgctgtg	13	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135862799G>A	uc004ccg.2	+	3	382	c.231G>A	c.(229-231)CCG>CCA	p.P77P	GFI1B_uc010mzy.2_Silent_p.P77P	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	77					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			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGATGGCCCCGGCACCAGGTA	0.622													A	135862799	G	A	135862799	2	1	248	1	0	0	0	0	0	0	0	1	6340	1103	39	1		1	GFI1B	9	135862799	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	357029	135862799	5350632	863	122870											
RALGDS	5900	broad.mit.edu	37	chr9	135974124	135974124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcatggcatagaagacGttggcgttttcagggatctt	13	6	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135974124G>A	uc004cco.2	-	18	2615	c.2595C>T	c.(2593-2595)AAC>AAT	p.N865N	RALGDS_uc004cct.1_RNA|RALGDS_uc004ccn.2_Silent_p.N53N|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.N853N|RALGDS_uc004ccr.2_Silent_p.N864N|RALGDS_uc011mcv.1_Silent_p.N836N|RALGDS_uc004ccs.2_Silent_p.N810N|RALGDS_uc011mcw.1_Silent_p.N936N	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	865	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CATAGAAGACGTTGGCGTTTT	0.587			T	CIITA	PMBL|Hodgkin Lymphona|								A	135974124	G	A	135974124	2	1	248	1	0	0	0	0	0	0	0	1	13016	1136	40	1		1	RALGDS	9	135974124	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	111325	135974124	5239307	864	122871											
ADAMTS13	11093	broad.mit.edu	37	chr9	136323181	136323181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccaccaacatgggcGctgggaccgagggagccaat	14	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:136323181G>A	uc004cdv.3	+	28	4486	c.4042G>A	c.(4042-4044)GCT>ACT	p.A1348T	ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A1292T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A1261T|ADAMTS13_uc004cdw.3_Missense_Mutation_p.A1292T|ADAMTS13_uc004cdx.3_Missense_Mutation_p.A1261T|ADAMTS13_uc004cdz.3_Missense_Mutation_p.A1018T|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.3_Missense_Mutation_p.A144T|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1348	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)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAACATGGGCGCTGGGACCGA	0.612													A	136323181	G	A	136323181	3	1	248	1	0	0	0	0	1	0	0	0	258	1087	38	1	4152	1	ADAMTS13	9	136323181	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	349057	136323181	4890250	865	122872											
BRD3	8019	broad.mit.edu	37	chr9	136913403	136913403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgtgctggggcacctcGccgtcctccaggtccttctt	11	17	1	0	rs141698176	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:136913403G>A	uc004cew.2	-	6	1076	c.888C>T	c.(886-888)GGC>GGT	p.G296G	BRD3_uc004cex.2_Silent_p.G296G	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	296						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGCACCTCGCCGTCCTCCA	0.662			T	NUT|C15orf55	lethal midline carcinoma of young people								A	136913403	G	A	136913403	2	1	248	1	0	0	0	0	0	0	0	1	1503	1074	38	1		1	BRD3	9	136913403	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	590222	136913403	4300028	866	122873											
SNAPC4	6621	broad.mit.edu	37	chr9	139273538	139273538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggacgggagcaccaccGggccccgggtggcctccctg	17	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139273538G>A	uc004chh.2	-	21	2750	c.2741C>T	c.(2740-2742)CCG>CTG	p.P914L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	914					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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GAGCACCACCGGGCCCCGGGT	0.711													A	139273538	G	A	139273538	3	1	248	1	0	0	0	0	1	0	0	0	14837	1116	39	1	1676	1	SNAPC4	9	139273538	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2360135	139273538	1939893	867	122874											
SNAPC4	6621	broad.mit.edu	37	chr9	139276754	139276754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagcaccctcagcacgGtctccacaggcactgtcagc	9	18	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139276754G>A	uc004chh.2	-	16	2027	c.2018C>T	c.(2017-2019)ACC>ATC	p.T673I		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	673					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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTCAGCACGGTCTCCACAGG	0.692													A	139276754	G	A	139276754	3	1	248	1	0	0	0	0	1	0	0	0	14837	1261	44	4	2419	4	SNAPC4	9	139276754	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3216	139276754	1936677	868	122875											
PMPCA	23203	broad.mit.edu	37	chr9	139310805	139310805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggacctgaacctgcggCctgacccagagccacttctc	11	15	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139310805C>T	uc004chl.2	+	6	600	c.595C>T	c.(595-597)CCT>TCT	p.P199S	PMPCA_uc011mdy.1_Missense_Mutation_p.P199S|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.P99S|PMPCA_uc011mdz.1_Missense_Mutation_p.P68S|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	199					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GAACCTGCGGCCTGACCCAGA	0.562													T	139310805	C	T	139310805	3	4	248	1	0	0	0	0	1	0	0	0	12140	739	26	2	617	2	PMPCA	9	139310805	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	34051	139310805	1902626	869	122876											
SEC16A	9919	broad.mit.edu	37	chr9	139345823	139345823	+	Frame_Shift_Del	DEL	G	G	-													agtcggcacgatcccaccctGggggggcctccgagtctggc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139345823delG	uc004chx.2	-	23	6506	c.6197delC	c.(6196-6198)CCAfs	p.P2066fs	SEC16A_uc004chr.2_5'Flank|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Frame_Shift_Del_p.P97fs|SEC16A_uc004chu.2_Frame_Shift_Del_p.P251fs|SEC16A_uc004chv.3_Frame_Shift_Del_p.P1456fs|SEC16A_uc004chw.2_Frame_Shift_Del_p.P2066fs|SEC16A_uc010nbn.2_Frame_Shift_Del_p.P2066fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1888	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCCACCCTGGGGGGGCCTC	0.632													-	139345823	G	-	139345823	7	5	248	1	0	1	0	1	0	0	0	0	13986	1348	47	0	916	0	SEC16A	9	139345823	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	35018	139345823	1867608	870	122877											
C9orf172	389813	broad.mit.edu	37	chr9	139739521	139739521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcactgggcccgccccGccccgcagttccacggcctc	11	23	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139739521G>A	uc011meh.1	+	1	655	c.655G>A	c.(655-657)GCC>ACC	p.A219T	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	219	Pro-rich.										0						GGCCCGCCCCGCCCCGCAGTT	0.756													A	139739521	G	A	139739521	3	1	248	1	0	0	0	0	1	0	0	0	2471	1087	38	1	657	1	C9orf172	9	139739521	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	393698	139739521	1473910	871	122878											
MAMDC4	158056	broad.mit.edu	37	chr9	139749937	139749937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccccagccccccagcCcctgccgcccagctcgcggc	11	25	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139749937C>A	uc004cjs.2	+	12	1387	c.1337C>A	c.(1336-1338)CCC>CAC	p.P446H	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	446	Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		GCCCCCCAGCCCCTGCCGCCC	0.697													A	139749937	C	A	139749937	3	1	248	1	0	0	0	0	1	0	0	0	9204	623	22	5	1383	5	MAMDC4	9	139749937	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10416	139749937	1463494	872	122879											
MAMDC4	158056	broad.mit.edu	37	chr9	139752533	139752534	+	Frame_Shift_Ins	INS	-	-	CGAG													ggcagcatggacgtgcaggcINScgagcgagcctggagggtga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139752533_139752534insCGAG	uc004cjs.2	+	20	2617_2618	c.2567_2568insCGAG	c.(2566-2568)GCCfs	p.A856fs	MAMDC4_uc011mej.1_Frame_Shift_Ins_p.A193fs	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	935	MAM 5.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	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)		GACGTGCAGGCCGAGCGAGCCT	0.653													CGAG	139752534	-	CGAG	139752533	7	5	248	1	0	1	1	0	0	0	0	0	9204	739	26	0	2645	0	MAMDC4	9	139752533	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	2596	139752533	1460898	873	122880											
RNF208	727800	broad.mit.edu	37	chr9	140115251	140115251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcactccaggggctcGcctgccgccgccgaagaagc	16	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140115251G>A	uc004clz.1	-	1	525	c.414C>T	c.(412-414)GGC>GGT	p.G138G		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	138							zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGGGGCTCGCCTGCCGCCG	0.672													A	140115251	G	A	140115251	2	1	248	1	0	0	0	0	0	0	0	1	13475	1074	38	1		1	RNF208	9	140115251	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	362718	140115251	1098180	874	122881											
SLC34A3	142680	broad.mit.edu	37	chr9	140128330	140128330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagacccaggagaacagcAgctgtggcgccttcggcccg	13	16	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140128330A>G	uc004cmf.1	+	9	1048	c.862A>G	c.(862-864)AGC>GGC	p.S288G	SLC34A3_uc004cmc.1_Missense_Mutation_p.S145G|SLC34A3_uc004cmd.1_Missense_Mutation_p.S288G|SLC34A3_uc011met.1_Missense_Mutation_p.S288G	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	288	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGAGAACAGCAGCTGTGGCGC	0.697													G	140128330	A	G	140128330	3	3	248	1	0	0	0	0	1	0	0	0	14569	188	7	3	892	3	SLC34A3	9	140128330	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	13079	140128330	1085101	875	122882											
SLC34A3	142680	broad.mit.edu	37	chr9	140129157	140129157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgccctggccagccccGcagacaggatgctcagcgcc	13	17	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140129157G>A	uc004cmf.1	+	12	1495	c.1309G>A	c.(1309-1311)GCA>ACA	p.A437T	SLC34A3_uc011met.1_Missense_Mutation_p.A437T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	437	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCCAGCCCCGCAGACAGGAT	0.662													A	140129157	G	A	140129157	3	1	248	1	0	0	0	0	1	0	0	0	14569	1087	38	1	1351	1	SLC34A3	9	140129157	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	827	140129157	1084274	876	122883											
EXD3	54932	broad.mit.edu	37	chr9	140243850	140243850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctgctcctcgcagagcGgcctccggtcccagttggac	12	16	0	2	rs138566172	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140243850G>A	uc004cmp.2	-	15	1824	c.1628C>T	c.(1627-1629)CCG>CTG	p.P543L	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.P223L|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	543	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CTCGCAGAGCGGCCTCCGGTC	0.706													A	140243850	G	A	140243850	3	1	248	1	0	0	0	0	1	0	0	0	5299	1116	39	1	1034	1	EXD3	9	140243850	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	114693	140243850	969581	877	122884											
PNPLA7	375775	broad.mit.edu	37	chr9	140358900	140358900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcggccttcatcaaggaCgtcatgccctggggccacat	12	14	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140358900C>T	uc004cnf.2	-	26	3310	c.2973G>A	c.(2971-2973)ACG>ACA	p.T991T	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Silent_p.T257T|PNPLA7_uc004cne.1_Silent_p.T257T|PNPLA7_uc011mfa.1_Silent_p.T399T|PNPLA7_uc010ncj.1_Silent_p.T1016T	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	991	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCATCAAGGACGTCATGCCCT	0.602													T	140358900	C	T	140358900	2	4	248	1	0	0	0	0	0	0	0	1	12170	523	19	1		1	PNPLA7	9	140358900	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	115050	140358900	854531	878	122885											
GDI2	2665	broad.mit.edu	37	chr10	5827990	5827990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaatttcctgaagcgacGtttttcaaacaatcccatta	6	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:5827990G>A	uc001iil.3	-	5	703	c.412C>T	c.(412-414)CGT>TGT	p.R138C	GDI2_uc001iim.3_Missense_Mutation_p.R93C|GDI2_uc009xid.2_Missense_Mutation_p.R142C	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	138					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						CTGAAGCGACGTTTTTCAAAC	0.368													A	5827990	G	A	5827990	3	1	248	1	0	0	0	0	1	0	0	0	6321	1145	40	1	953	1	GDI2	10	5827990	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		5827990	129706757	879	122886											
UPF2	26019	broad.mit.edu	37	chr10	11994153	11994153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgatctttggtcttagCagttctagtgtatcactgat	9	6	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:11994153C>T	uc001ila.2	-	14	3420	c.2946G>A	c.(2944-2946)CTG>CTA	p.L982L	UPF2_uc001ilb.2_Silent_p.L982L|UPF2_uc001ilc.2_Silent_p.L982L|UPF2_uc009xiz.1_Silent_p.L982L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	982	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				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			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TTGGTCTTAGCAGTTCTAGTG	0.368													T	11994153	C	T	11994153	2	4	248	1	0	0	0	0	0	0	0	1	17001	697	25	2		2	UPF2	10	11994153	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6166163	11994153	123540594	880	122887											
SEC61A2	55176	broad.mit.edu	37	chr10	12206310	12206310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcggtttgtgcattggcGccctgtcagtgctggctgac	15	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:12206310G>A	uc001ile.2	+	12	1435	c.1288G>A	c.(1288-1290)GCC>ACC	p.A430T	SEC61A2_uc010qbq.1_Missense_Mutation_p.A408T|SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	430	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				GTGCATTGGCGCCCTGTCAGT	0.522													A	12206310	G	A	12206310	3	1	248	1	0	0	0	0	1	0	0	0	14001	1087	38	1	1334	1	SEC61A2	10	12206310	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	212157	12206310	123328437	881	122888											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	248	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	1490142	13696452	121838295	882	122889											
CUBN	8029	broad.mit.edu	37	chr10	16911647	16911647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttacccaatgtctgccGgaaagacatcttccagcctt	6	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:16911647G>A	uc001ioo.2	-	59	9494	c.9442C>T	c.(9442-9444)CGG>TGG	p.R3148W	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.R504W	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3148	CUB 23.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTGCCGGAAAGACATC	0.463													A	16911647	G	A	16911647	3	1	248	1	0	0	0	0	1	0	0	0	4051	1115	39	1	1465	1	CUBN	10	16911647	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3215195	16911647	118623100	883	122890											
PTPLA	9200	broad.mit.edu	37	chr10	17645563	17645563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgtcacttactggtTttatactgtgagtaatgagc	10	5	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:17645563T>C	uc001ipg.2	-	4	514	c.479A>G	c.(478-480)AAA>AGA	p.K160R	PTPLA_uc001iph.1_3'UTR	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	160	Lumenal (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						ACTTACTGGTTTTATACTGTG	0.368													C	17645563	T	C	17645563	3	2	248	1	0	0	0	0	1	0	0	0	12774	1841	64	3	403	3	PTPLA	10	17645563	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	733916	17645563	117889184	884	122891											
ARMC3	219681	broad.mit.edu	37	chr10	23295876	23295876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagaaccaagtgacctaCgggctgtactcttaatcaac	7	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:23295876C>T	uc001irm.3	+	14	1878	c.1795C>T	c.(1795-1797)CGG>TGG	p.R599W	ARMC3_uc010qcv.1_Missense_Mutation_p.R599W|ARMC3_uc010qcw.1_Missense_Mutation_p.R336W	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	599							binding				0						AAGTGACCTACGGGCTGTACT	0.448													T	23295876	C	T	23295876	3	4	248	1	0	0	0	0	1	0	0	0	952	527	19	1	1845	1	ARMC3	10	23295876	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5650313	23295876	112238871	885	122892											
KIAA1217	56243	broad.mit.edu	37	chr10	24762280	24762281	+	Frame_Shift_Ins	INS	-	-	C													tccagtgccccattccatgcINSccccctccccgtccagaatt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:24762279_24762280G>GC	uc001iru.4	+	5	1372_1373	c.969_970G>GC	c.(967-972)atgcccfs	p.M323fs	KIAA1217_uc001irs.3_Frame_Shift_Ins_p.M243fs|KIAA1217_uc001irt.4_Frame_Shift_Ins_p.M323fs|KIAA1217_uc010qcy.2_Frame_Shift_Ins_p.M323fs|KIAA1217_uc010qcz.2_Frame_Shift_Ins_p.M323fs|KIAA1217_uc001irv.1_Frame_Shift_Ins_p.M173fs|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Frame_Shift_Ins_p.M41fs|KIAA1217_uc001irz.3_Frame_Shift_Ins_p.M41fs|KIAA1217_uc001irx.3_Frame_Shift_Ins_p.M41fs|KIAA1217_uc001iry.3_Frame_Shift_Ins_p.M41fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	323	Pro-rich.				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						CCCATTCCATGCCCCCCTCCCC	0.619													C	24762281	-	C	24762280	7	5	248	1	0	1	1	0	0	0	0	0	8216	739	26	0	992	0	KIAA1217	10	24762280	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1466404	24762280	110772467	886	122893											
KIAA1217	56243	broad.mit.edu	37	chr10	24832428	24832428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttagccaaaagggagaagAcatacagacggttaatatcg	11	6	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:24832428A>G	uc001iru.3	+	19	4632	c.4229A>G	c.(4228-4230)GAC>GGC	p.D1410G	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.D1093G|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.D246G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1410					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AAGGGAGAAGACATACAGACG	0.478													G	24832428	A	G	24832428	3	3	248	1	0	0	0	0	1	0	0	0	8216	275	10	3	4303	3	KIAA1217	10	24832428	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	70148	24832428	110702319	887	122894											
MYO3A	53904	broad.mit.edu	37	chr10	26463099	26463103	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-													caaaatgcaaacagcatggaAaaagaaaagaagacatctgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:26463098_26463102AAAAAG>A	uc001isn.2	+	29	4265_4269	c.3905_3909AAAAAG>A	c.(3904-3909)gaaaaafs	p.E1302fs	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1302					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|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						AACAGCATGGAAAAAGAAAAGAAGA	0.444													-	26463103	AAAAG	-	26463099	7	5	248	1	0	1	0	1	0	0	0	0	10076	11	1	0	4016	0	MYO3A	10	26463099	Frame_Shift_Del	DEL	AAAAG	TCGA-FP-A4BE-01A-12D-A24D-08	1630671	26463099	109071648	888	122895											
ANKRD26	22852	broad.mit.edu	37	chr10	27324397	27324397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttgctttgcttttcAttctccagtttagaatttag	5	9	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:27324397A>G	uc001ith.2	-	24	3151	c.2979T>C	c.(2977-2979)AAT>AAC	p.N993N	ANKRD26_uc001itg.2_Silent_p.N680N|ANKRD26_uc009xku.1_Silent_p.N994N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	993	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TTTGCTTTTCATTCTCCAGTT	0.378													G	27324397	A	G	27324397	2	3	248	1	0	0	0	0	0	0	0	1	654	214	8	3		3	ANKRD26	10	27324397	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	861298	27324397	108210350	889	122896											
NRP1	8829	broad.mit.edu	37	chr10	33510760	33510760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggaatactgcaaccacaAcatctgtggggttggtgttt	13	7	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:33510760A>G	uc001iwx.3	-	8	1692	c.1169T>C	c.(1168-1170)GTT>GCT	p.V390A	NRP1_uc001iwv.3_Missense_Mutation_p.V390A|NRP1_uc009xlz.2_Missense_Mutation_p.V390A|NRP1_uc001iww.3_Missense_Mutation_p.V209A|NRP1_uc001iwy.3_Missense_Mutation_p.V390A|NRP1_uc001iwz.2_Missense_Mutation_p.V390A|NRP1_uc001ixa.2_Missense_Mutation_p.V390A|NRP1_uc001ixb.1_Missense_Mutation_p.V390A|NRP1_uc001ixc.1_Missense_Mutation_p.V390A	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	390	F5/8 type C 1.|Extracellular (Potential).				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			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TGCAACCACAACATCTGTGGG	0.413													G	33510760	A	G	33510760	3	3	248	1	0	0	0	0	1	0	0	0	10660	43	2	3	1653	3	NRP1	10	33510760	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	6186363	33510760	102023987	890	122897											
BMS1	9790	broad.mit.edu	37	chr10	43285923	43285923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactgaagaagacaaagaaGcgattaaaacacaggttctg	9	7	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:43285923G>T	uc001jaj.2	+	5	958	c.600G>T	c.(598-600)AAG>AAT	p.K200N		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGACAAAGAAGCGATTAAAAC	0.368													T	43285923	G	T	43285923	3	4	248	1	0	0	0	0	1	0	0	0	1472	962	34	5	614	5	BMS1	10	43285923	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9775163	43285923	92248824	891	122898											
BMS1	9790	broad.mit.edu	37	chr10	43318580	43318580	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagggaatgtttaattcTgccttggaagtggccaaatt	11	6	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:43318580T>A	uc001jaj.2	+	20	3505	c.3147T>A	c.(3145-3147)TCT>TCA	p.S1049S		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1049					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGTTTAATTCTGCCTTGGAAG	0.403													A	43318580	T	A	43318580	2	1	248	1	0	0	0	0	0	0	0	1	1472	1567	55	5		5	BMS1	10	43318580	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	32657	43318580	92216167	892	122899											
FAM21C	253725	broad.mit.edu	37	chr10	46254807	46254808	+	Frame_Shift_Del	DEL	AA	AA	-													ctcaagccctcatcagaaacAaagactcaaaaaggcttatt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:46254806_46254807CAA>C	uc001jcu.3	+	16	1710_1711	c.1592_1593CAA>C	c.(1591-1593)acafs	p.T531fs	FAM21C_uc001jcs.2_Frame_Shift_Del_p.T476fs|FAM21C_uc010qfk.2_Frame_Shift_Del_p.T531fs|FAM21C_uc010qfi.2_Frame_Shift_Del_p.T507fs|FAM21C_uc010qfj.2_Intron	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	531										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						TCATCAGAAACAAAGACTCAAA	0.396													-	46254808	AA	-	46254807	7	5	248	1	0	1	0	1	0	0	0	0	5542	117	5	0	1659	0	FAM21C	10	46254807	Frame_Shift_Del	DEL	AA	TCGA-FP-A4BE-01A-12D-A24D-08	2936227	46254807	89279940	893	122900											
RBP3	5949	broad.mit.edu	37	chr10	48390035	48390035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccagggacctggacacGggcaccgtgaagaagaagtc	15	12	0	3	rs35186791	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:48390035G>A	uc001jez.2	-	1	957	c.843C>T	c.(841-843)CCC>CCT	p.P281P		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	281	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ACCTGGACACGGGCACCGTGA	0.697													A	48390035	G	A	48390035	2	1	248	1	0	0	0	0	0	0	0	1	13157	1103	39	1		1	RBP3	10	48390035	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2135228	48390035	87144712	894	122901											
SLC18A3	6572	broad.mit.edu	37	chr10	50820281	50820281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtacgatgcggtgcgcCtgcgtgagcgtcctgtgtct	15	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:50820281C>A	uc001jhw.2	+	1	1935	c.1495C>A	c.(1495-1497)CTG>ATG	p.L499M	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	499	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						TGCGGTGCGCCTGCGTGAGCG	0.652													A	50820281	C	A	50820281	3	1	248	1	0	0	0	0	1	0	0	0	14427	680	24	5	1497	5	SLC18A3	10	50820281	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2430246	50820281	84714466	895	122902											
PCDH15	65217	broad.mit.edu	37	chr10	55698590	55698590	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttactttttgaaggaactcGgagattggcaaggaccactt	10	8	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:55698590G>A	uc001jju.1	-	25	3753	c.3358C>T	c.(3358-3360)CGA>TGA	p.R1120*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.R1125*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R1120*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R1132*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R1127*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R1120*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R1120*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R1083*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R1049*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R1125*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R1120*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R1098*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R1098*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1120	Cadherin 10.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGGAACTCGGAGATTGGCA	0.378										HNSCC(58;0.16)			A	55698590	G	A	55698590	4	1	248	1	0	0	0	0	0	1	0	0	11511	1124	39	1	4164	1	PCDH15	10	55698590	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4878309	55698590	79836157	896	122903											
BICC1	80114	broad.mit.edu	37	chr10	60558307	60558307	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacccccacttgctaatacTtcaagtgccacaggtcagta	7	14	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:60558307T>G	uc001jki.1	+	11	1515	c.1515T>G	c.(1513-1515)ACT>ACG	p.T505T	BICC1_uc001jkj.1_Silent_p.T146T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	505					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TTGCTAATACTTCAAGTGCCA	0.403													G	60558307	T	G	60558307	2	3	248	1	0	0	0	0	0	0	0	1	1427	1596	56	5		5	BICC1	10	60558307	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	4859717	60558307	74976440	897	122904											
BICC1	80114	broad.mit.edu	37	chr10	60588648	60588648	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagtgtcagtggccgctgGtagcagcaccctcttggcac	13	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:60588648G>A	uc001jki.1	+	21	2922	c.2922G>A	c.(2920-2922)TGG>TGA	p.W974*		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	974					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GTGGCCGCTGGTAGCAGCACC	0.537													A	60588648	G	A	60588648	4	1	248	1	0	0	0	0	0	1	0	0	1427	1270	44	4	3004	4	BICC1	10	60588648	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	30341	60588648	74946099	898	122905											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648131	62648131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcgatctgagccaggCccaccaaatccttttccttt	6	16	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:62648131C>T	uc001jli.2	-	7	1733	c.1295G>A	c.(1294-1296)GGC>GAC	p.G432D	RHOBTB1_uc001jlh.2_Missense_Mutation_p.G432D|RHOBTB1_uc001jlj.2_Missense_Mutation_p.G432D|RHOBTB1_uc001jlk.2_Missense_Mutation_p.G432D|RHOBTB1_uc009xpe.1_Missense_Mutation_p.G370D|RHOBTB1_uc001jll.2_Missense_Mutation_p.G182D	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	432					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					CTGAGCCAGGCCCACCAAATC	0.498													T	62648131	C	T	62648131	3	4	248	1	0	0	0	0	1	0	0	0	13333	739	26	2	819	2	RHOBTB1	10	62648131	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2059483	62648131	72886616	899	122906											
HK1	3098	broad.mit.edu	37	chr10	71142514	71142514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgtggttaagatgctgCcctccttcgtccggagaact	11	12	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71142514C>T	uc001jpl.3	+	10	1638	c.1537C>T	c.(1537-1539)CCC>TCC	p.P513S	HK1_uc001jpg.3_Missense_Mutation_p.P501S|HK1_uc001jph.3_Missense_Mutation_p.P517S|HK1_uc001jpi.3_Missense_Mutation_p.P517S|HK1_uc001jpj.3_Missense_Mutation_p.P548S|HK1_uc001jpk.3_Missense_Mutation_p.P512S|HK1_uc009xqd.2_Missense_Mutation_p.P391S	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	513	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TAAGATGCTGCCCTCCTTCGT	0.637													T	71142514	C	T	71142514	3	4	248	1	0	0	0	0	1	0	0	0	7190	739	26	2	1753	2	HK1	10	71142514	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	8494383	71142514	64392233	900	122907											
HK1	3098	broad.mit.edu	37	chr10	71154810	71154810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagggcagatctctgagaCgctgaagacccggggcatct	14	12	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71154810C>T	uc001jpl.3	+	16	2425	c.2324C>T	c.(2323-2325)ACG>ATG	p.T775M	HK1_uc001jpg.3_Missense_Mutation_p.T763M|HK1_uc001jph.3_Missense_Mutation_p.T779M|HK1_uc001jpi.3_Missense_Mutation_p.T779M|HK1_uc001jpj.3_Missense_Mutation_p.T810M|HK1_uc001jpk.3_Missense_Mutation_p.T774M	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	775	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATCTCTGAGACGCTGAAGACC	0.542													T	71154810	C	T	71154810	3	4	248	1	0	0	0	0	1	0	0	0	7190	536	19	1	2564	1	HK1	10	71154810	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	12296	71154810	64379937	901	122908											
TSPAN15	23555	broad.mit.edu	37	chr10	71244904	71244904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttttccagttcatgtAcatccttgggatctgcctca	7	11	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71244904A>T	uc001jpo.1	+	3	415	c.290A>T	c.(289-291)TAC>TTC	p.Y97F		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	97	Helical; (Potential).					integral to plasma membrane|membrane fraction					0						CAGTTCATGTACATCCTTGGG	0.507													T	71244904	A	T	71244904	3	4	248	1	0	0	0	0	1	0	0	0	16636	391	14	5	300	5	TSPAN15	10	71244904	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	90094	71244904	64289843	902	122909											
C10orf35	219738	broad.mit.edu	37	chr10	71392612	71392612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccagcagcaggcaggtGccaggctgggtgctgctcag	16	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71392612G>A	uc001jpq.3	+	4	333	c.163G>A	c.(163-165)GCC>ACC	p.A55T		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	hypothetical protein LOC219738	55						integral to membrane				ovary(1)|skin(1)	2						GCAGGCAGGTGCCAGGCTGGG	0.607													A	71392612	G	A	71392612	3	1	248	1	0	0	0	0	1	0	0	0	1603	1319	46	2	169	2	C10orf35	10	71392612	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	147708	71392612	64142135	903	122910											
TYSND1	219743	broad.mit.edu	37	chr10	71902581	71902581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaagactggccaaagacGccaaagcccaccacactcac	7	18	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71902581G>A	uc001jqr.2	-	3	1480	c.1326C>T	c.(1324-1326)GGC>GGT	p.G442G	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	442	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						GGCCAAAGACGCCAAAGCCCA	0.592													A	71902581	G	A	71902581	2	1	248	1	0	0	0	0	0	0	0	1	16814	1074	38	1		1	TYSND1	10	71902581	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	509969	71902581	63632166	904	122911											
TYSND1	219743	broad.mit.edu	37	chr10	71903616	71903616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcatggaagtgctcagCgggcacagggatggggacat	15	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71903616C>T	uc001jqr.2	-	2	1433	c.1279G>A	c.(1279-1281)GCT>ACT	p.A427T	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	427	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						AAGTGCTCAGCGGGCACAGGG	0.587													T	71903616	C	T	71903616	3	4	248	1	0	0	0	0	1	0	0	0	16814	768	27	1	433	1	TYSND1	10	71903616	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1035	71903616	63631131	905	122912											
PRF1	5551	broad.mit.edu	37	chr10	72360283	72360283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaccttccagtcgttgcGgatgctacgagccgcatccc	10	17	0	0	rs34279237		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:72360283G>A	uc009xqg.2	-	2	537	c.376C>T	c.(376-378)CGC>TGC	p.R126C	PRF1_uc001jrf.3_Missense_Mutation_p.R126C	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	126	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						CAGTCGTTGCGGATGCTACGA	0.632			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				A	72360283	G	A	72360283	3	1	248	1	0	0	0	0	1	0	0	0	12478	1116	39	1	1299	1	PRF1	10	72360283	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	456667	72360283	63174464	906	122913											
ADAMTS14	140766	broad.mit.edu	37	chr10	72493785	72493785	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcagccgctacctcccGtaggtcattcctgccctcag	9	17	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:72493785G>A	uc001jrh.2	+	8	1352	c.1352_splice	c.e8+1	p.P451_splice	ADAMTS14_uc001jrg.2_Splice_Site_p.P454_splice|ADAMTS14_uc001jri.1_5'UTR	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1						collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCTACCTCCCGTAGGTCATTC	0.652													A	72493785	G	A	72493785	5	1	248	1	0	0	0	0	0	0	1	0	259	1159	40	1	1392	1	ADAMTS14	10	72493785	Splice_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	133502	72493785	63040962	907	122914											
PSAP	5660	broad.mit.edu	37	chr10	73578796	73578796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggctcaccaagcacaCgaaggaaggatccatcacct	10	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:73578796C>T	uc001jsm.2	-	12	1527	c.1423G>A	c.(1423-1425)GTG>ATG	p.V475M	PSAP_uc001jsl.2_Missense_Mutation_p.V199M	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	475	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						ACCAAGCACACGAAGGAAGGA	0.587													T	73578796	C	T	73578796	3	4	248	1	0	0	0	0	1	0	0	0	12643	536	19	1	163	1	PSAP	10	73578796	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1085011	73578796	61955951	908	122915											
SEC24C	9632	broad.mit.edu	37	chr10	75525560	75525560	+	Splice_Site	DEL	C	C	-													ctgccatgcttcccacagttCccccccagtattttcagcac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:75525559_75525559TC>T	uc001juw.3	+	11	1547	c.1367_splice	c.e11-1	p.V456_splice	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Splice_Site_p.V314_splice|SEC24C_uc001jux.3_Splice_Site_p.V456_splice|SEC24C_uc010qko.2_Splice_Site_p.V337_splice|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum 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)					TTCCCACAGTTCCCCCCCAGT	0.512													-	75525560	C	-	75525560	8	5	248	1	0	1	0	1	0	0	1	0	13996	855	30	0	1403	0	SEC24C	10	75525560	Splice_Site	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	1946764	75525560	60009187	909	122916											
DLG5	9231	broad.mit.edu	37	chr10	79576827	79576827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggattttaatgcgttccGccttgaactgcaagttactc	9	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:79576827G>A	uc001jzk.2	-	19	3882	c.3812C>T	c.(3811-3813)GCG>GTG	p.A1271V	DLG5_uc001jzi.2_Missense_Mutation_p.A26V|DLG5_uc001jzj.2_Missense_Mutation_p.A686V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A875V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1271					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			ovary(5)|breast(3)	8	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)			AATGCGTTCCGCCTTGAACTG	0.498													A	79576827	G	A	79576827	3	1	248	1	0	0	0	0	1	0	0	0	4558	1087	38	1	2003	1	DLG5	10	79576827	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4051267	79576827	55957920	910	122917											
CDHR1	92211	broad.mit.edu	37	chr10	85961676	85961676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatcaccgtggtcgccaaGgtaacacagcaggacagggg	13	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:85961676G>T	uc001kcv.2	+	7	639	c.639G>T	c.(637-639)AAG>AAT	p.K213N	CDHR1_uc001kcw.2_Missense_Mutation_p.K213N|CDHR1_uc009xst.2_Translation_Start_Site	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	213	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TGGTCGCCAAGGTAACACAGC	0.612													T	85961676	G	T	85961676	3	4	248	1	0	0	0	0	1	0	0	0	3118	1014	35	5	665	5	CDHR1	10	85961676	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6384849	85961676	49573071	911	122918											
BMPR1A	657	broad.mit.edu	37	chr10	88679226	88679226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctgttaaattcaacaGgtgagtggttctttgcccca	9	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:88679226G>T	uc001kdy.2	+	10	1714	c.1166G>T	c.(1165-1167)AGT>ATT	p.S389I		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	389	Cytoplasmic (Potential).|Protein kinase.				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			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						AAATTCAACAGGTGAGTGGTT	0.373			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				T	88679226	G	T	88679226	3	4	248	1	0	0	0	0	1	0	0	0	1469	1014	35	5	1196	5	BMPR1A	10	88679226	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2717550	88679226	46855521	912	122919											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	9	13	2	1	rs121909219		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:89717672C>T	uc001kfb.2	+	8	1728	c.697C>T	c.(697-699)CGA>TGA	p.R233*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	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.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		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)		AGGACCCACACGACGGGAAGA	0.423	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	248	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1038446	89717672	45817075	913	122920											
CPEB3	22849	broad.mit.edu	37	chr10	93841161	93841161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgattggagaatgccacGcggccagcacctttggggta	14	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:93841161G>A	uc001khw.1	-	9	1958	c.1785C>T	c.(1783-1785)CGC>CGT	p.R595R	CPEB3_uc001khu.1_Silent_p.R604R|CPEB3_uc001khv.1_Silent_p.R581R|CPEB3_uc010qnn.1_Silent_p.R581R	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	595	RRM 2.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				AGAATGCCACGCGGCCAGCAC	0.507													A	93841161	G	A	93841161	2	1	248	1	0	0	0	0	0	0	0	1	3802	1074	38	1		1	CPEB3	10	93841161	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4123489	93841161	41693586	914	122921											
ZNF518A	9849	broad.mit.edu	37	chr10	97919833	97919833	+	Frame_Shift_Del	DEL	A	A	-													tcaatagaaaaaagacttccAaaaaaattttttcaaaaaca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:97919832_97919832CA>C	uc001klp.3	+	5	4610	c.3753_3753CA>C	c.(3751-3753)tccfs	p.S1251fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.S721fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.S1251fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.S1251fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I1254fs*11(2)|p.T1250A(1)		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)		AAAAGACTTCCAAAAAAATTT	0.338													-	97919833	A	-	97919833	7	5	248	1	0	1	0	1	0	0	0	0	17959	131	5	0	3756	0	ZNF518A	10	97919833	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	4078672	97919833	37614914	915	122922											
DNTT	1791	broad.mit.edu	37	chr10	98078230	98078230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgatgtctcctggctgatcGaatgcataagagcagggaaa	12	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:98078230G>A	uc001kmf.2	+	2	495	c.325G>A	c.(325-327)GAA>AAA	p.E109K	DNTT_uc001kmg.2_Missense_Mutation_p.E109K	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	109	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CTGGCTGATCGAATGCATAAG	0.473													A	98078230	G	A	98078230	3	1	248	1	0	0	0	0	1	0	0	0	4680	1059	37	1	331	1	DNTT	10	98078230	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	158397	98078230	37456517	916	122923											
C10orf12	26148	broad.mit.edu	37	chr10	98742762	98742762	+	Frame_Shift_Del	DEL	A	A	-													gtcttgaaatcaaagttcctAaaaatcctagtgcaaaacgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:98742762delA	uc001kmv.2	+	1	1722	c.1615delA	c.(1615-1617)AAAfs	p.K539fs		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	539										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAAAGTTCCTAAAAATCCTAG	0.448													-	98742762	A	-	98742762	7	5	248	1	0	1	0	1	0	0	0	0	1589	363	13	0	1617	0	C10orf12	10	98742762	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	664532	98742762	36791985	917	122924											
SLIT1	6585	broad.mit.edu	37	chr10	98761090	98761090	+	Frame_Shift_Del	DEL	C	C	-													gtgaaagtcccggacagggtCcccccggcactcggactctg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:98761089_98761089TC>T	uc001kmw.2	-	36	4637	c.4385_4385GA>A	c.(4384-4386)gacfs	p.D1462fs		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1462	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion 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)		CCGGACAGGGTCCCCCCGGCA	0.667													-	98761090	C	-	98761090	7	5	248	1	0	1	0	1	0	0	0	0	14739	855	30	0	224	0	SLIT1	10	98761090	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	18328	98761090	36773657	918	122925											
GOLGA7B	401647	broad.mit.edu	37	chr10	99619319	99619319	+	Frame_Shift_Del	DEL	C	C	-													tgtcagttccagaccaaattCcccccagagctggacagccg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:99619319delC	uc001kos.2	+	2	182	c.117delC	c.(115-117)TTCfs	p.F39fs		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	39						Golgi membrane					0						AGACCAAATTCCCCCCAGAGC	0.522													-	99619319	C	-	99619319	7	5	248	1	0	1	0	1	0	0	0	0	6562	854	30	0	123	0	GOLGA7B	10	99619319	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	858229	99619319	35915428	919	122926											
CPN1	1369	broad.mit.edu	37	chr10	101841226	101841226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctcccctccacgctgcGcccaatgctgtagacccgcg	10	18	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:101841226G>A	uc001kql.2	-	1	417	c.157C>T	c.(157-159)CGC>TGC	p.R53C		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	53	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TCCACGCTGCGCCCAATGCTG	0.597													A	101841226	G	A	101841226	3	1	248	1	0	0	0	0	1	0	0	0	3809	1087	38	1	1255	1	CPN1	10	101841226	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2221907	101841226	33693521	920	122927											
POLL	27343	broad.mit.edu	37	chr10	103339479	103339479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgatgtccaggcgccGgtgccgccgccctggccctg	14	17	0	1	rs113383598		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:103339479G>A	uc001ktg.1	-	8	2225	c.1459C>T	c.(1459-1461)CGG>TGG	p.R487W	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R160W|POLL_uc001kte.1_Missense_Mutation_p.R179W|POLL_uc001kth.1_Missense_Mutation_p.R212W|POLL_uc001kti.1_Missense_Mutation_p.R487W|POLL_uc001ktj.1_Missense_Mutation_p.R487W|POLL_uc001ktf.2_Missense_Mutation_p.R395W|POLL_uc001ktk.1_Missense_Mutation_p.R226W|POLL_uc010qqa.1_Missense_Mutation_p.R226W|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.R487W|POLL_uc001ktl.2_Missense_Mutation_p.R399W|POLL_uc010qqc.1_Missense_Mutation_p.R179W	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	487	DNA binding.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGGCGCCGGTGCCGCCGC	0.627								DNA_polymerases_(catalytic_subunits)					A	103339479	G	A	103339479	3	1	248	1	0	0	0	0	1	0	0	0	12205	1115	39	1	272	1	POLL	10	103339479	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1498253	103339479	32195268	921	122928											
TMEM180	79847	broad.mit.edu	37	chr10	104233581	104233581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctctactgcagcaaccGcgtcttcactgagggcacct	8	17	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:104233581G>A	uc001kvt.2	+	9	1322	c.1103G>A	c.(1102-1104)CGC>CAC	p.R368H	TMEM180_uc010qql.1_Missense_Mutation_p.R97H|TMEM180_uc010qqm.1_Missense_Mutation_p.R217H	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	368						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCAGCAACCGCGTCTTCACT	0.612													A	104233581	G	A	104233581	3	1	248	1	0	0	0	0	1	0	0	0	16096	1087	38	1	1129	1	TMEM180	10	104233581	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	894102	104233581	31301166	922	122929											
CALHM1	255022	broad.mit.edu	37	chr10	105218347	105218347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcgccagcaggatgccCgcgctgtaggctgcattgta	16	11	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:105218347C>T	uc001kxe.2	-	1	302	c.162G>A	c.(160-162)GCG>GCA	p.A54A		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	54	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1						GCAGGATGCCCGCGCTGTAGG	0.632													T	105218347	C	T	105218347	2	4	248	1	0	0	0	0	0	0	0	1	2582	639	23	1		1	CALHM1	10	105218347	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	984766	105218347	30316400	923	122930											
SORCS3	22986	broad.mit.edu	37	chr10	107022147	107022147	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgacaaggagcaggagatgAttgggtcagtgagccaaagt	15	6	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:107022147A>T	uc001kyi.1	+	26	3729	c.3502A>T	c.(3502-3504)ATT>TTT	p.I1168F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1168	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		GCAGGAGATGATTGGGTCAGT	0.498													T	107022147	A	T	107022147	3	4	248	1	0	0	0	0	1	0	0	0	14932	333	12	5	3604	5	SORCS3	10	107022147	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1803800	107022147	28512600	924	122931											
ADD3	120	broad.mit.edu	37	chr10	111877137	111877137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaccacattataataaTtcccagaggcctatcttttt	5	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:111877137T>C	uc001kyt.3	+	6	838	c.524T>C	c.(523-525)ATT>ACT	p.I175T	ADD3_uc001kys.3_Missense_Mutation_p.I175T|ADD3_uc001kyu.2_Missense_Mutation_p.I175T|ADD3_uc001kyv.2_Missense_Mutation_p.I175T|ADD3_uc001kyw.2_Missense_Mutation_p.I175T	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	175						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		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)		ATTATAATAATTCCCAGAGGC	0.368													C	111877137	T	C	111877137	3	2	248	1	0	0	0	0	1	0	0	0	306	1493	52	3	538	3	ADD3	10	111877137	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	4854990	111877137	23657610	925	122932											
PDCD4	27250	broad.mit.edu	37	chr10	112641119	112641119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaagctagaattaatgccAaggcaaaaaggcgactaagg	11	7	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:112641119A>G	uc001kzh.2	+	3	415	c.172A>G	c.(172-174)AAG>GAG	p.K58E	PDCD4_uc001kzg.2_Missense_Mutation_p.K47E|PDCD4_uc010qre.1_Missense_Mutation_p.K44E	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	58	Nuclear localization signal (Potential).				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AATTAATGCCAAGGCAAAAAG	0.448													G	112641119	A	G	112641119	3	3	248	1	0	0	0	0	1	0	0	0	11621	131	5	3	192	3	PDCD4	10	112641119	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	763982	112641119	22893628	926	122933											
C10orf118	55088	broad.mit.edu	37	chr10	115885658	115885658	+	Frame_Shift_Del	DEL	T	T	-													caaataccttcaaagtaataTtttttagtaacgtatcctcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:115885658delT	uc001lbb.1	-	15	3252	c.2600delA	c.(2599-2601)AATfs	p.N867fs	C10orf118_uc009xyd.1_Intron|C10orf118_uc001lbc.1_Frame_Shift_Del_p.N867fs|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	867	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CAAAGTAATATTTTTTAGTAA	0.383													-	115885658	T	-	115885658	7	5	248	1	0	1	0	1	0	0	0	0	1587	1493	52	0	104	0	C10orf118	10	115885658	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	3244539	115885658	19649089	927	122934											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060074	116060074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccgtctggattttgacGgtggtgattctcagggaagg	15	6	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:116060074G>A	uc001lbn.2	-	15	2137	c.1836C>T	c.(1834-1836)ACC>ACT	p.T612T	AFAP1L2_uc001lbo.2_Silent_p.T612T|AFAP1L2_uc010qse.1_Silent_p.T665T|AFAP1L2_uc001lbp.2_Silent_p.T640T|AFAP1L2_uc001lbr.1_Silent_p.T611T|AFAP1L2_uc001lbm.2_Silent_p.T51T|AFAP1L2_uc010qsd.1_Silent_p.T178T|AFAP1L2_uc001lbq.1_Silent_p.T134T	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	612					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			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGATTTTGACGGTGGTGATTC	0.607													A	116060074	G	A	116060074	2	1	248	1	0	0	0	0	0	0	0	1	355	1103	39	1		1	AFAP1L2	10	116060074	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	174416	116060074	19474673	928	122935											
HSPA12A	259217	broad.mit.edu	37	chr10	118435931	118435931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatgctcaatgatgctatCgatggtcggcttaaaaaggg	13	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:118435931C>T	uc001lct.2	-	11	1474	c.1369G>A	c.(1369-1371)GAT>AAT	p.D457N	HSPA12A_uc001lcu.2_Missense_Mutation_p.D374N	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	457							ATP binding			ovary(1)	1				all cancers(201;0.0158)		ATGATGCTATCGATGGTCGGC	0.557													T	118435931	C	T	118435931	3	4	248	1	0	0	0	0	1	0	0	0	7404	884	31	1	666	1	HSPA12A	10	118435931	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2375857	118435931	17098816	929	122936											
EIF3A	8661	broad.mit.edu	37	chr10	120802226	120802226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccccagacgccggggccGctcttcatctcttctatgag	9	16	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:120802226G>A	uc001ldu.2	-	19	2952	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W	EIF3A_uc010qsu.1_Missense_Mutation_p.R902W|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	936	Asp-rich.|2; truncated.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CGCCGGGGCCGCTCTTCATCT	0.502													A	120802226	G	A	120802226	3	1	248	1	0	0	0	0	1	0	0	0	5012	1086	38	1	1358	1	EIF3A	10	120802226	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2366295	120802226	14732521	930	122937											
EIF3A	8661	broad.mit.edu	37	chr10	120825026	120825026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagtcgagcaatatccGtacgctcaggagtaataggg	12	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:120825026G>A	uc001ldu.2	-	7	1153	c.1007C>T	c.(1006-1008)ACG>ATG	p.T336M	EIF3A_uc010qsu.1_Missense_Mutation_p.T302M	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	336					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGCAATATCCGTACGCTCAGG	0.423													A	120825026	G	A	120825026	3	1	248	1	0	0	0	0	1	0	0	0	5012	1145	40	1	3205	1	EIF3A	10	120825026	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	22800	120825026	14709721	931	122938											
FGFR2	2263	broad.mit.edu	37	chr10	123325146	123325146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatctttcaacaggcagCgcacctctagcgactcccct	8	17	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:123325146C>T	uc010qtk.1	-	3	829	c.182G>A	c.(181-183)CGC>CAC	p.R61H	FGFR2_uc010qtg.1_Missense_Mutation_p.R61H|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.R61H|FGFR2_uc010qtl.1_Missense_Mutation_p.R61H|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.R61H|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.R80H|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.R80H|FGFR2_uc010qtp.1_Missense_Mutation_p.R80H|FGFR2_uc010qtq.1_Missense_Mutation_p.R80H	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	61	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CAACAGGCAGCGCACCTCTAG	0.542		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				T	123325146	C	T	123325146	3	4	248	1	0	0	0	0	1	0	0	0	5866	768	27	1	2603	1	FGFR2	10	123325146	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2500120	123325146	12209601	932	122939											
TACC2	10579	broad.mit.edu	37	chr10	123842358	123842358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcctccatgccctttgccGagtgtcccccggaaggttgc	11	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:123842358G>A	uc001lfv.2	+	4	703	c.343G>A	c.(343-345)GAG>AAG	p.E115K	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E115K|TACC2_uc010qtv.1_Missense_Mutation_p.E115K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	115						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCTTTGCCGAGTGTCCCCC	0.647													A	123842358	G	A	123842358	3	1	248	1	0	0	0	0	1	0	0	0	15499	1059	37	1	353	1	TACC2	10	123842358	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	517212	123842358	11692389	933	122940											
HTRA1	5654	broad.mit.edu	37	chr10	124266284	124266284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcgccatcggaagcccGttttcccttcaaaacacagt	9	13	1	0	rs138702840	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:124266284G>A	uc001lgj.2	+	4	983	c.855G>A	c.(853-855)CCG>CCA	p.P285P		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	285	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCGGAAGCCCGTTTTCCCTTC	0.612													A	124266284	G	A	124266284	2	1	248	1	0	0	0	0	0	0	0	1	7453	1132	40	1		1	HTRA1	10	124266284	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	423926	124266284	11268463	934	122941											
DMBT1	1755	broad.mit.edu	37	chr10	124399763	124399763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtatggcaattttgacGtgaacatttccttttatact	6	8	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:124399763G>A	uc001lgk.1	+	52	6869	c.6763G>A	c.(6763-6765)GTG>ATG	p.V2255M	DMBT1_uc001lgl.1_Missense_Mutation_p.V2245M|DMBT1_uc001lgm.1_Missense_Mutation_p.V1627M|DMBT1_uc009xzz.1_Missense_Mutation_p.V2254M|DMBT1_uc010qtx.1_Missense_Mutation_p.V975M|DMBT1_uc009yab.1_Missense_Mutation_p.V958M|DMBT1_uc009yac.1_Missense_Mutation_p.V549M	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2255	ZP.		V -> M.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAATTTTGACGTGAACATTTC	0.463													A	124399763	G	A	124399763	3	1	248	1	0	0	0	0	1	0	0	0	4577	1145	40	1	6969	1	DMBT1	10	124399763	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	133479	124399763	11134984	935	122942											
STK32C	282974	broad.mit.edu	37	chr10	134039074	134039074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccgtcgcccgctccccGtccttgatgatggtggcaat	11	14	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:134039074G>A	uc001lle.1	-	6	869	c.729C>T	c.(727-729)GAC>GAT	p.D243D	STK32C_uc001lld.1_Silent_p.D126D|STK32C_uc010quu.1_Silent_p.D256D|STK32C_uc009ybc.1_Silent_p.D126D|STK32C_uc009ybd.1_Silent_p.D126D|STK32C_uc001llb.2_Translation_Start_Site|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	243	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		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)		CCCGCTCCCCGTCCTTGATGA	0.607													A	134039074	G	A	134039074	2	1	248	1	0	0	0	0	0	0	0	1	15298	1136	40	1		1	STK32C	10	134039074	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9639311	134039074	1495673	936	122943											
INPP5A	3632	broad.mit.edu	37	chr10	134563060	134563060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcagacggtccgggccGccgacaccaatgaagtggtg	14	13	0	2	rs150116834		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:134563060G>A	uc001llp.2	+	10	1020	c.772G>A	c.(772-774)GCC>ACC	p.A258T	INPP5A_uc001llo.1_Missense_Mutation_p.A258T|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	258					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			skin(1)	1		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)		GGTCCGGGCCGCCGACACCAA	0.627													A	134563060	G	A	134563060	3	1	248	1	0	0	0	0	1	0	0	0	7754	1087	38	1	810	1	INPP5A	10	134563060	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	523986	134563060	971687	937	122944											
VENTX	27287	broad.mit.edu	37	chr10	135053733	135053733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacccccctaccccaggcCggccttcgctgggaccagcc	9	23	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:135053733C>T	uc010quy.1	+	3	711	c.700C>T	c.(700-702)CGG>TGG	p.R234W		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	234					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TACCCCAGGCCGGCCTTCGCT	0.682													T	135053733	C	T	135053733	3	4	248	1	0	0	0	0	1	0	0	0	17150	643	23	1	710	1	VENTX	10	135053733	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	490673	135053733	481014	938	122945											
MTG1	92170	broad.mit.edu	37	chr10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-													ctcgacgtcctgcggggccaCcccccggctgagactttgcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:135233644_135233644AC>A	uc001lnd.3	+	10	1084	c.980_980AC>A	c.(979-981)cacfs	p.H327fs	MTG1_uc010qve.2_Frame_Shift_Del_p.H192fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	327						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTGCGGGGCCACCCCCCGGCT	0.642													-	135233645	C	-	135233645	7	5	248	1	0	1	0	1	0	0	0	0	9926	506	18	0	1023	0	MTG1	10	135233645	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	179912	135233645	301102	939	122946											
CYP2E1	1571	broad.mit.edu	37	chr10	135346255	135346255	+	Frame_Shift_Del	DEL	A	A	-													ggaagccacagaaaagtcatAaaaaatgtggctgaagtaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:135346254_135346254TA>T	uc001lnj.1	+	4	740	c.707_707TA>T	c.(706-708)atafs	p.I236fs	CYP2E1_uc001lnk.1_Frame_Shift_Del_p.I99fs|CYP2E1_uc009ybl.1_Frame_Shift_Del_p.I37fs|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Frame_Shift_Del_p.I37fs	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	236					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)	AGAAAAGTCATAAAAAATGTG	0.433									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				-	135346255	A	-	135346255	7	5	248	1	0	1	0	1	0	0	0	0	4170	352	13	0	726	0	CYP2E1	10	135346255	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	112610	135346255	188492	940	122947											
B4GALNT4	338707	broad.mit.edu	37	chr11	377226	377226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgctcggactggaaCgacctgcgatgcaacgtttc	12	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:377226C>T	uc001lpb.2	+	14	2112	c.2103C>T	c.(2101-2103)AAC>AAT	p.N701N		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	701	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		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)		CGGACTGGAACGACCTGCGAT	0.706													T	377226	C	T	377226	2	4	248	1	0	0	0	0	0	0	0	1	1269	535	19	1		1	B4GALNT4	11	377226	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08		377226	134629290	941	122948											
RPLP2	6181	broad.mit.edu	37	chr11	812614	812614	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgcagcccctgctgcTggttctgcccctgctgcagg	13	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:812614T>G	uc001lrq.1	+	4	357	c.252T>G	c.(250-252)GCT>GCG	p.A84A	RPLP2_uc001lrr.1_Silent_p.A84A	NM_001004	NP_000995	P05387	RLA2_HUMAN	ribosomal protein P2	84					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		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)		CCCCTGCTGCTGGTTCTGCCC	0.632													G	812614	T	G	812614	2	3	248	1	0	0	0	0	0	0	0	1	13606	1567	55	5		5	RPLP2	11	812614	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	435388	812614	134193902	942	122949											
MUC6	4588	broad.mit.edu	37	chr11	1017284	1017284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggagaaagatggaacGtgagtgggaagtgtggtgtg	21	1	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:1017284G>A	uc001lsw.2	-	31	5568	c.5517C>T	c.(5515-5517)CAC>CAT	p.H1839H		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1839	Thr-rich.|2.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		AAGATGGAACGTGAGTGGGAA	0.542													A	1017284	G	A	1017284	2	1	248	1	0	0	0	0	0	0	0	1	9980	1136	40	1		1	MUC6	11	1017284	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	204670	1017284	133989232	943	122950											
SYT8	90019	broad.mit.edu	37	chr11	1857168	1857168	+	Frame_Shift_Del	DEL	G	G	-													cccgggggatgctcagcaatGggggtgcctgcagctctccc					rs149898219		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:1857168delG	uc001lue.1	+	4	481	c.353delG	c.(352-354)TGGfs	p.W118fs	SYT8_uc010qxb.1_Frame_Shift_Del_p.W104fs|SYT8_uc001lud.2_Frame_Shift_Del_p.W118fs|SYT8_uc001luf.1_Frame_Shift_Del_p.W104fs	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	118	Cytoplasmic (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		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)		GCTCAGCAATGGGGGTGCCTG	0.627													-	1857168	G	-	1857168	7	5	248	1	0	1	0	1	0	0	0	0	15477	1357	47	0	367	0	SYT8	11	1857168	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	839884	1857168	133149348	944	122951											
TH	7054	broad.mit.edu	37	chr11	2193005	2193005	+	Frame_Shift_Del	DEL	G	G	-													gcctgtggcgtggtggcgtcGggggtgggcatggctcagtg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:2193004_2193004CG>C	uc001lvq.3	-	0	32	c.13_13CG>G	c.(13-15)gacfs	p.D5fs	TH_uc001lvp.3_Frame_Shift_Del_p.D5fs|TH_uc001lvr.3_Frame_Shift_Del_p.D5fs|TH_uc010qxj.2_Frame_Shift_Del_p.D5fs|TH_uc001lvs.3_Frame_Shift_Del_p.D5fs|TH_uc001lvt.3_Frame_Shift_Del_p.D5fs|MIR4686_uc021qce.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	5					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	p.D5D(1)		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)	GTGGTGGCGTCGGGGGTGGGC	0.667													-	2193005	G	-	2193005	7	5	248	1	0	1	0	1	0	0	0	0	15835	1103	39	0	1630	0	TH	11	2193005	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	335837	2193005	132813511	945	122952											
OR51T1	401665	broad.mit.edu	37	chr11	4903803	4903803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctatgtcctgatcctccGtactgttctgggcattgtgg	10	12	1	1	rs144368286		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:4903803G>A	uc010qyp.1	+	1	755	c.755G>A	c.(754-756)CGT>CAT	p.R252H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		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)		CTGATCCTCCGTACTGTTCTG	0.453													A	4903803	G	A	4903803	3	1	248	1	0	0	0	0	1	0	0	0	11106	1145	40	1	757	1	OR51T1	11	4903803	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2710798	4903803	130102713	946	122953											
OR52A5	390054	broad.mit.edu	37	chr11	5153372	5153372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgatagtgtttcagacaGcatttgatgagccctaagga	11	7	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:5153372G>A	uc010qyx.1	-	1	501	c.501C>T	c.(499-501)TGC>TGT	p.C167C		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		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)		GTTTCAGACAGCATTTGATGA	0.448													A	5153372	G	A	5153372	2	1	248	1	0	0	0	0	0	0	0	1	11110	963	34	2		2	OR52A5	11	5153372	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	249569	5153372	129853144	947	122954											
OR51B2	79345	broad.mit.edu	37	chr11	5344773	5344773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtcaaacccatcactGtaacatagaagataagaaca	6	8	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:5344773G>A	uc001mao.1	-	1	810	c.755C>T	c.(754-756)ACA>ATA	p.T252I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		ACCCATCACTGTAACATAGAA	0.393													A	5344773	G	A	5344773	3	1	248	1	0	0	0	0	1	0	0	0	11089	1377	48	4	187	4	OR51B2	11	5344773	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	191401	5344773	129661743	948	122955											
CCKBR	887	broad.mit.edu	37	chr11	6292370	6292370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgacggctcctgggcCgggatccggctcccggccca	16	17	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6292370C>T	uc001mcp.2	+	5	1134	c.941C>T	c.(940-942)CCG>CTG	p.P314L	CCKBR_uc001mcq.2_Missense_Mutation_p.P242L|CCKBR_uc001mcr.2_Missense_Mutation_p.P314L|CCKBR_uc001mcs.2_Missense_Mutation_p.P383L|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	314	Cytoplasmic (Potential).				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			lung(5)|ovary(2)|breast(1)	8		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)	GCTCCTGGGCCGGGATCCGGC	0.632													T	6292370	C	T	6292370	3	4	248	1	0	0	0	0	1	0	0	0	2881	652	23	1	959	1	CCKBR	11	6292370	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	947597	6292370	128714146	949	122956											
SMPD1	6609	broad.mit.edu	37	chr11	6415560	6415560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactggcagcttctctacaGggctcgagaaacctatgggc	12	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6415560G>T	uc001mcw.2	+	6	1793	c.1619G>T	c.(1618-1620)AGG>ATG	p.R540M	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.R496M|SMPD1_uc009yew.2_Missense_Mutation_p.R539M	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	538					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				0		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)	CTTCTCTACAGGGCTCGAGAA	0.577													T	6415560	G	T	6415560	3	4	248	1	0	0	0	0	1	0	0	0	14804	1000	35	5	1681	5	SMPD1	11	6415560	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	123190	6415560	128590956	950	122957											
APBB1	322	broad.mit.edu	37	chr11	6431940	6431940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcactggctgcactgttcCgcatgccaaacaggaggctg	11	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6431940C>T	uc001mdb.1	-	2	738	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	APBB1_uc001mdc.1_Missense_Mutation_p.R213Q|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	213					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(2)	2		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)		TGCACTGTTCCGCATGCCAAA	0.627													T	6431940	C	T	6431940	3	4	248	1	0	0	0	0	1	0	0	0	759	652	23	1	1546	1	APBB1	11	6431940	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	16380	6431940	128574576	951	122958											
TPP1	1200	broad.mit.edu	37	chr11	6638921	6638921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcacttctgggctccggCtgccaagagccatttttgca	11	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6638921C>T	uc001mel.1	-	4	377	c.316G>A	c.(316-318)GCC>ACC	p.A106T	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.A106T	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	106					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				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TGGGCTCCGGCTGCCAAGAGC	0.547													T	6638921	C	T	6638921	3	4	248	1	0	0	0	0	1	0	0	0	16408	797	28	2	1415	2	TPP1	11	6638921	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	206981	6638921	128367595	952	122959											
SYT9	143425	broad.mit.edu	37	chr11	7334640	7334640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaaggcataattcaatccGaagacaactcaacttgtcaa	5	10	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:7334640G>A	uc001mfe.2	+	3	749	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	171	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AATTCAATCCGAAGACAACTC	0.388													A	7334640	G	A	7334640	3	1	248	1	0	0	0	0	1	0	0	0	15478	1058	37	1	522	1	SYT9	11	7334640	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	695719	7334640	127671876	953	122960											
CTR9	9646	broad.mit.edu	37	chr11	10785262	10785263	+	Frame_Shift_Ins	INS	-	-	T													atcctcttttgtgctcccatINStttttggtttgggacaaatg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:10785261_10785262A>AT	uc001mja.3	+	8	1178_1179	c.1029_1030A>AT	c.(1027-1032)ccatttfs	p.P343fs		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	343					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTGTGCTCCCATTTTTTGGTTT	0.342													T	10785263	-	T	10785262	7	5	248	1	0	1	1	0	0	0	0	0	4024	1493	52	0	1064	0	CTR9	11	10785262	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	3450622	10785262	124221254	954	122961											
MICAL2	9645	broad.mit.edu	37	chr11	12234823	12234823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagaagaaaagaattccGtgggaagctggcgattgcca	13	7	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:12234823G>A	uc001mjz.2	+	7	1001	c.713G>A	c.(712-714)CGT>CAT	p.R238H	MICAL2_uc010rch.1_Missense_Mutation_p.R238H|MICAL2_uc001mka.2_Missense_Mutation_p.R238H|MICAL2_uc010rci.1_Missense_Mutation_p.R238H|MICAL2_uc001mkb.2_Missense_Mutation_p.R238H|MICAL2_uc001mkc.2_Missense_Mutation_p.R238H|MICAL2_uc001mkd.2_Missense_Mutation_p.R67H	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	238						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AAAGAATTCCGTGGGAAGCTG	0.443													A	12234823	G	A	12234823	3	1	248	1	0	0	0	0	1	0	0	0	9570	1145	40	1	731	1	MICAL2	11	12234823	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1449561	12234823	122771693	955	122962											
ARNTL	406	broad.mit.edu	37	chr11	13380010	13380010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagattgaaaagcggcGtcgggataaaatgaacagtt	12	6	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:13380010G>A	uc001mkr.2	+	8	659	c.251G>A	c.(250-252)CGT>CAT	p.R84H	ARNTL_uc001mko.2_Missense_Mutation_p.R41H|ARNTL_uc001mkp.2_Missense_Mutation_p.R84H|ARNTL_uc001mkq.2_Missense_Mutation_p.R84H|ARNTL_uc001mks.2_Missense_Mutation_p.R41H|ARNTL_uc001mkt.2_Missense_Mutation_p.R84H|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.R41H|ARNTL_uc001mkv.1_Missense_Mutation_p.R41H|ARNTL_uc001mkw.2_Missense_Mutation_p.R41H|ARNTL_uc001mkx.2_Missense_Mutation_p.R82H	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	84	Basic motif.				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				0				Epithelial(150;0.0243)		GAAAAGCGGCGTCGGGATAAA	0.353													A	13380010	G	A	13380010	3	1	248	1	0	0	0	0	1	0	0	0	967	1145	40	1	280	1	ARNTL	11	13380010	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1145187	13380010	121626506	956	122963											
ARNTL	406	broad.mit.edu	37	chr11	13393940	13393941	+	Frame_Shift_Ins	INS	-	-	T													cgcgatagatggaaagtttgINStttttgtagaccagaggtaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:13393940_13393941insT	uc001mkr.2	+	13	1459_1460	c.1051_1052insT	c.(1051-1053)GTTfs	p.V351fs	ARNTL_uc001mko.2_Frame_Shift_Ins_p.V307fs|ARNTL_uc001mkp.2_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mkq.2_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mks.2_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkt.2_Frame_Shift_Ins_p.V351fs|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkw.2_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkx.2_Frame_Shift_Ins_p.V349fs	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	351	PAS 2.				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				0				Epithelial(150;0.0243)		TGGAAAGTTTGTTTTTGTAGAC	0.441													T	13393941	-	T	13393940	7	5	248	1	0	1	1	0	0	0	0	0	967	1377	48	0	1097	0	ARNTL	11	13393940	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	13930	13393940	121612576	957	122964	638	2									
ARNTL	406	broad.mit.edu	37	chr11	13393941	13393942	+	Frame_Shift_Ins	INS	-	-	T													gcgatagatggaaagtttgtINSttttgtagaccagaggtaag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:13393940_13393941G>GT	uc001mkr.3	+	12	1459_1460	c.1051_1052G>GT	c.(1051-1053)gttfs	p.V351fs	ARNTL_uc001mko.3_Frame_Shift_Ins_p.V307fs|ARNTL_uc001mkp.3_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mkq.3_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mks.3_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkt.3_Frame_Shift_Ins_p.V351fs|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkw.3_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkx.3_Frame_Shift_Ins_p.V349fs	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	351	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor 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)		TGGAAAGTTTGTTTTTGTAGAC	0.441													T	13393942	-	T	13393941	7	5	248	1	0	1	1	0	0	0	0	0	967	1725	60	0	1098	0	ARNTL	11	13393941	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	13393941	121612575	958	122965	638	2									
PIK3C2A	5286	broad.mit.edu	37	chr11	17139208	17139208	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtacatcatgcagggcatCtttgagaagcctaatacagc	9	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:17139208C>A	uc001mmq.3	-	18	3112	c.3046G>T	c.(3046-3048)GAT>TAT	p.D1016Y	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D636Y|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1016					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			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TGCAGGGCATCTTTGAGAAGC	0.299													A	17139208	C	A	17139208	3	1	248	1	0	0	0	0	1	0	0	0	11909	913	32	5	2074	5	PIK3C2A	11	17139208	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3745267	17139208	117867308	959	122966											
KCNC1	3746	broad.mit.edu	37	chr11	17793306	17793306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccccatcgtgaacaagaCggagatcgagaacgttcgca	10	12	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:17793306C>T	uc001mnk.3	+	2	720	c.665C>T	c.(664-666)ACG>ATG	p.T222M	KCNC1_uc009yhc.1_Missense_Mutation_p.T222M	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	222						voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						GTGAACAAGACGGAGATCGAG	0.587													T	17793306	C	T	17793306	3	4	248	1	0	0	0	0	1	0	0	0	8014	536	19	1	671	1	KCNC1	11	17793306	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	654098	17793306	117213210	960	122967											
PTPN5	84867	broad.mit.edu	37	chr11	18750529	18750529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcgtagaggctcatgacGtggtgcacaaactggtactg	12	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:18750529G>A	uc001mpd.2	-	15	2081	c.1650C>T	c.(1648-1650)CAC>CAT	p.H550H	IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.2_Silent_p.H518H|PTPN5_uc001mpc.2_Silent_p.H550H|PTPN5_uc001mpe.2_Silent_p.H518H|PTPN5_uc010rdj.1_Silent_p.H494H|PTPN5_uc001mpf.2_Silent_p.H526H|PTPN5_uc010rdk.1_Silent_p.H495H	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	550	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGCTCATGACGTGGTGCACAA	0.617													A	18750529	G	A	18750529	2	1	248	1	0	0	0	0	0	0	0	1	12791	1136	40	1		1	PTPN5	11	18750529	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	957223	18750529	116255987	961	122968											
PTPN5	84867	broad.mit.edu	37	chr11	18750571	18750571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcatgtctggatcatgccGcccctgcccggcagagatgc	12	15	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:18750571G>A	uc001mpd.2	-	15	2039	c.1608C>T	c.(1606-1608)GGC>GGT	p.G536G	IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.2_Silent_p.G504G|PTPN5_uc001mpc.2_Silent_p.G536G|PTPN5_uc001mpe.2_Silent_p.G504G|PTPN5_uc010rdj.1_Silent_p.G480G|PTPN5_uc001mpf.2_Silent_p.G512G|PTPN5_uc010rdk.1_Silent_p.G481G	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	536	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGATCATGCCGCCCCTGCCCG	0.602													A	18750571	G	A	18750571	2	1	248	1	0	0	0	0	0	0	0	1	12791	1074	38	1		1	PTPN5	11	18750571	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	42	18750571	116255945	962	122969											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955962	18955962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccagatgggccacaggaCggacaggcagcgctcggtgc	16	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:18955962C>T	uc001mpg.2	-	1	588	c.370G>A	c.(370-372)GTC>ATC	p.V124I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	124	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GGCCACAGGACGGACAGGCAG	0.602													T	18955962	C	T	18955962	3	4	248	1	0	0	0	0	1	0	0	0	9766	536	19	1	602	1	MRGPRX1	11	18955962	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	205391	18955962	116050554	963	122970											
NAV2	89797	broad.mit.edu	37	chr11	19955426	19955426	+	Frame_Shift_Del	DEL	G	G	-													ttgccagcttcatccccaaaGgggggaagctcaacagtgcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:19955425_19955425AG>A	uc010rdm.2	+	7	2065	c.1704_1704AG>A	c.(1702-1704)aaafs	p.K568fs	NAV2_uc001mpp.3_Frame_Shift_Del_p.K481fs|NAV2_uc001mpr.4_Frame_Shift_Del_p.K545fs|NAV2_uc021qew.1_Frame_Shift_Del_p.K545fs	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	568						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						TCATCCCCAAAGGGGGGAAGC	0.552													-	19955426	G	-	19955426	7	5	248	1	0	1	0	1	0	0	0	0	10184	1000	35	0	1741	0	NAV2	11	19955426	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	999464	19955426	115051090	964	122971											
NAV2	89797	broad.mit.edu	37	chr11	20005785	20005785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccctgggcctcggagaCgctgacaggtaagcttgctg	13	13	0	2	rs143699420		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:20005785C>T	uc010rdm.1	+	12	3190	c.2829C>T	c.(2827-2829)GAC>GAT	p.D943D	NAV2_uc001mpp.2_Silent_p.D856D|NAV2_uc001mpr.3_Silent_p.D920D	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	943						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GCCTCGGAGACGCTGACAGGT	0.587													T	20005785	C	T	20005785	2	4	248	1	0	0	0	0	0	0	0	1	10184	535	19	1		1	NAV2	11	20005785	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	50359	20005785	115000731	965	122972											
LIN7C	55327	broad.mit.edu	37	chr11	27523054	27523054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttacctttgcagtagcGttcgctctcacttcaggact	7	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:27523054G>A	uc001mrl.2	-	3	243	c.216C>T	c.(214-216)AAC>AAT	p.N72N	LIN7C_uc009yii.2_Intron	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	72					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TTGCAGTAGCGTTCGCTCTCA	0.313													A	27523054	G	A	27523054	2	1	248	1	0	0	0	0	0	0	0	1	8812	1136	40	1		1	LIN7C	11	27523054	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7517269	27523054	107483462	966	122973											
KCNA4	3739	broad.mit.edu	37	chr11	30033253	30033253	+	Frame_Shift_Del	DEL	A	A	-													ctcaggcaaggtttccaggcAaaagatgacaatggagatta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:30033252_30033252CA>C	uc021qfi.1	-	0	974	c.974_974TG>G	c.(973-975)tgcfs	p.C325fs	KCNA4_uc001msk.3_Frame_Shift_Del_p.C325fs	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	325						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						GGTTTCCAGGCAAAAGATGAC	0.512													-	30033253	A	-	30033253	7	5	248	1	0	1	0	1	0	0	0	0	8005	130	5	0	992	0	KCNA4	11	30033253	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	2510199	30033253	104973263	967	122974											
FJX1	24147	broad.mit.edu	37	chr11	35641478	35641478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgtaaggccaagtacGgccgccggtctgggacttag	14	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:35641478G>A	uc001mwh.2	+	1	1744	c.1294G>A	c.(1294-1296)GGC>AGC	p.G432S		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	432						extracellular space					0	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)				GGCCAAGTACGGCCGCCGGTC	0.632											OREG0020887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35641478	G	A	35641478	3	1	248	1	0	0	0	0	1	0	0	0	5901	1116	39	1	1296	1	FJX1	11	35641478	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5608225	35641478	99365038	968	122975											
RAG2	5897	broad.mit.edu	37	chr11	36614878	36614878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcattcttttttgatTttcaagctgatagccaccaa	6	9	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:36614878T>G	uc001mwv.3	-	2	1029	c.841A>C	c.(841-843)AAT>CAT	p.N281H	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	281					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			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTTTTTTGATTTTCAAGCTGA	0.413									Familial_Hemophagocytic_Lymphohistiocytosis				G	36614878	T	G	36614878	3	3	248	1	0	0	0	0	1	0	0	0	13005	1841	64	5	746	5	RAG2	11	36614878	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	973400	36614878	98391638	969	122976											
ACCSL	390110	broad.mit.edu	37	chr11	44080011	44080011	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcaacttgaaaaaggTgtgttctgggaatgaggaca	13	5	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:44080011T>C	uc001mxw.1	+	12	1526	c.1470_splice	c.e12+2	p.K490_splice	ACCSL_uc009ykr.2_Splice_Site_p.K309_splice	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTGAAAAAGGTGTGTTCTGGG	0.532													C	44080011	T	C	44080011	5	2	248	1	0	0	0	0	0	0	1	0	134	1710	59	3	1518	3	ACCSL	11	44080011	Splice_Site	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	7465133	44080011	90926505	970	122977											
TP53I11	9537	broad.mit.edu	37	chr11	44958448	44958448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtcagggaaggcaagCgcctgcgggcagcgagaggg	20	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:44958448C>T	uc001myi.2	-	8	845	c.240G>A	c.(238-240)GCG>GCA	p.A80A	TP53I11_uc001myf.1_RNA|TP53I11_uc001myj.2_Silent_p.A80A|TP53I11_uc001myk.2_Silent_p.A80A|TP53I11_uc001myl.2_Silent_p.A80A|TP53I11_uc001mym.2_Silent_p.A27A	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	80	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						GGAAGGCAAGCGCCTGCGGGC	0.647											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44958448	C	T	44958448	2	4	248	1	0	0	0	0	0	0	0	1	16382	755	27	1		1	TP53I11	11	44958448	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	878437	44958448	90048068	971	122978											
PEX16	9409	broad.mit.edu	37	chr11	45935996	45935996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgctggggagctccccAgtgcctggagtgcagggacg	17	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:45935996A>G	uc001nbu.2	-	7	877	c.565T>C	c.(565-567)TGG>CGG	p.W189R	PEX16_uc001nbt.2_Missense_Mutation_p.W189R	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	189	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		GGAGCTCCCCAGTGCCTGGAG	0.682													G	45935996	A	G	45935996	3	3	248	1	0	0	0	0	1	0	0	0	11743	188	7	3	558	3	PEX16	11	45935996	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	977548	45935996	89070520	972	122979											
CKAP5	9793	broad.mit.edu	37	chr11	46818454	46818454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacccaatgcttcaaatgCggcatctctgacttcaggag	9	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:46818454C>T	uc001ndi.1	-	12	1485	c.1375G>A	c.(1375-1377)GCA>ACA	p.A459T	CKAP5_uc009ylg.1_Missense_Mutation_p.A345T|CKAP5_uc001ndj.1_Missense_Mutation_p.A459T	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	459	HEAT 3.				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|protein binding			ovary(1)|skin(1)	2						GCTTCAAATGCGGCATCTCTG	0.398													T	46818454	C	T	46818454	3	4	248	1	0	0	0	0	1	0	0	0	3445	768	27	1	4855	1	CKAP5	11	46818454	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	882458	46818454	88188062	973	122980											
OR4S1	256148	broad.mit.edu	37	chr11	48327887	48327888	+	Frame_Shift_Ins	INS	-	-	G													tttcatgtgctcactgtcctINSggggaaccttctggtcatca					rs141535342		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:48327887_48327888insG	uc010rhu.1	+	1	113_114	c.113_114insG	c.(112-114)CTGfs	p.L38fs		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCACTGTCCTGGGGAACCTTC	0.426													G	48327888	-	G	48327887	7	5	248	1	0	1	1	0	0	0	0	0	11082	1580	55	0	115	0	OR4S1	11	48327887	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1509433	48327887	86678629	974	122981	639	2									
OR4S1	256148	broad.mit.edu	37	chr11	48327888	48327889	+	Frame_Shift_Ins	INS	-	-	G													ttcatgtgctcactgtcctgINSgggaaccttctggtcatcat					rs141535342		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:48327887_48327888T>TG	uc010rhu.2	+	0	113_114	c.113_114T>TG	c.(112-114)ctgfs	p.L38fs		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTCACTGTCCTGGGGAACCTTC	0.426													G	48327889	-	G	48327888	7	5	248	1	0	1	1	0	0	0	0	0	11082	1335	47	0	116	0	OR4S1	11	48327888	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	48327888	86678628	975	122982	639	2									
OR4A16	81327	broad.mit.edu	37	chr11	55110922	55110922	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacccaaattgatgatagaCttactctgtgataaaatcgc	6	9	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:55110922C>G	uc010rie.1	+	1	246	c.246C>G	c.(244-246)GAC>GAG	p.D82E		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TGATGATAGACTTACTCTGTG	0.458													G	55110922	C	G	55110922	3	3	248	1	0	0	0	0	1	0	0	0	11041	564	20	5	248	5	OR4A16	11	55110922	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6783034	55110922	79895594	976	122983											
OR4C15	81309	broad.mit.edu	37	chr11	55321970	55321970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaagctttgtaactgAgtttgtcctcctgggacttt	8	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:55321970A>C	uc010rig.1	+	1	188	c.188A>C	c.(187-189)GAG>GCG	p.E63A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTTGTAACTGAGTTTGTCCTC	0.383										HNSCC(20;0.049)			C	55321970	A	C	55321970	3	2	248	1	0	0	0	0	1	0	0	0	11048	304	11	5	190	5	OR4C15	11	55321970	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	211048	55321970	79684546	977	122984											
OR5AR1	219493	broad.mit.edu	37	chr11	56431942	56431942	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatgtttatgtacctgAggccaacatccagctactcc	7	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:56431942A>C	uc010rjm.1	+	1	781	c.781A>C	c.(781-783)AGG>CGG	p.R261R		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATGTACCTGAGGCCAACATC	0.507													C	56431942	A	C	56431942	2	2	248	1	0	0	0	0	0	0	0	1	11145	295	11	5		5	OR5AR1	11	56431942	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1109972	56431942	78574574	978	122985											
OR5AK2	390181	broad.mit.edu	37	chr11	56756801	56756801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatactgtaatcatgtcccGaacagtctgcatccgtttgg	8	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:56756801G>A	uc010rjp.1	+	1	413	c.413G>A	c.(412-414)CGA>CAA	p.R138Q		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						ATCATGTCCCGAACAGTCTGC	0.453													A	56756801	G	A	56756801	3	1	248	1	0	0	0	0	1	0	0	0	11142	1058	37	1	415	1	OR5AK2	11	56756801	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	324859	56756801	78249715	979	122986											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076566	57076566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccactttccaaacagcCggtcaggttcatgtctctca	6	16	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:57076566C>T	uc001njr.2	-	5	3931	c.3619G>A	c.(3619-3621)GGC>AGC	p.G1207S	TNKS1BP1_uc001njs.2_Missense_Mutation_p.G1207S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G658S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1207	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				TCCAAACAGCCGGTCAGGTTC	0.577													T	57076566	C	T	57076566	3	4	248	1	0	0	0	0	1	0	0	0	16317	652	23	1	1594	1	TNKS1BP1	11	57076566	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	319765	57076566	77929950	980	122987											
P2RX3	5024	broad.mit.edu	37	chr11	57117242	57117242	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccccaggggaaacctccTtcccaacctgacagccaggg	9	18	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:57117242T>G	uc001nju.2	+	7	651	c.575T>G	c.(574-576)CTT>CGT	p.L192R		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	192	Extracellular (Potential).				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				0						GGAAACCTCCTTCCCAACCTG	0.612											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	57117242	T	G	57117242	3	3	248	1	0	0	0	0	1	0	0	0	11341	1609	56	5	601	5	P2RX3	11	57117242	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	40676	57117242	77889274	981	122988											
FAM111B	374393	broad.mit.edu	37	chr11	58877138	58877138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaacaagtcatttagcGctatggaagatgaccagagg	11	6	1	4	rs144133192		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:58877138G>A	uc001nnl.2	+	3	283	c.40G>A	c.(40-42)GCT>ACT	p.A14T	FAM111B_uc001nnm.2_Intron|FAM111B_uc010rko.1_Intron	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	14							catalytic activity			ovary(2)	2						GTCATTTAGCGCTATGGAAGA	0.303													A	58877138	G	A	58877138	3	1	248	1	0	0	0	0	1	0	0	0	5400	1087	38	1	42	1	FAM111B	11	58877138	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1759896	58877138	76129378	982	122989											
OR4D11	219986	broad.mit.edu	37	chr11	59271719	59271719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacacagtcatcctaatgaCgctgaggtctcaggcaggag	11	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:59271719C>T	uc001noa.1	+	1	671	c.671C>T	c.(670-672)ACG>ATG	p.T224M		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATCCTAATGACGCTGAGGTCT	0.512													T	59271719	C	T	59271719	3	4	248	1	0	0	0	0	1	0	0	0	11055	536	19	1	673	1	OR4D11	11	59271719	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	394581	59271719	75734797	983	122990											
VPS37C	55048	broad.mit.edu	37	chr11	60901619	60901619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctggaactccaagttccGctctgccaggctccggttgg	11	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:60901619G>A	uc001nqv.1	-	3	214	c.154C>T	c.(154-156)CGG>TGG	p.R52W	VPS37C_uc001nqw.1_Missense_Mutation_p.R52W	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37C	52					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0						TCCAAGTTCCGCTCTGCCAGG	0.587													A	60901619	G	A	60901619	3	1	248	1	0	0	0	0	1	0	0	0	17204	1086	38	1	925	1	VPS37C	11	60901619	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1629900	60901619	74104897	984	122991											
FEN1	2237	broad.mit.edu	37	chr11	61563897	61563897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactctcttcagctaagcGcaaggagccagaacccaagg	9	14	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:61563897G>A	uc001nsg.2	+	2	1436	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H		NM_004111	NP_004102	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	355					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			ovary(1)	1						TCAGCTAAGCGCAAGGAGCCA	0.532								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	61563897	G	A	61563897	3	1	248	1	0	0	0	0	1	0	0	0	5812	1087	38	1	1066	1	FEN1	11	61563897	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	662278	61563897	73442619	985	122992											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62488859	62488859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactaaaaggtctcggcTtttggggtccatctctggct	11	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:62488859T>C	uc001nuw.2	-	9	1712	c.1519A>G	c.(1519-1521)AGC>GGC	p.S507G	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	507					cell killing	nucleus	ATP binding|nucleic acid binding				0						AGGTCTCGGCTTTTGGGGTCC	0.423													C	62488859	T	C	62488859	3	2	248	1	0	0	0	0	1	0	0	0	7275	1609	56	3	748	3	HNRNPUL2	11	62488859	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	924962	62488859	72517657	986	122993											
NXF1	10482	broad.mit.edu	37	chr11	62563573	62563573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaccacgaaggaattgaCgtcgtgctgggttttgggca	14	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:62563573C>T	uc001nvf.1	-	16	1562	c.1426G>A	c.(1426-1428)GTC>ATC	p.V476I	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.V519I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	476	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						AAGGAATTGACGTCGTGCTGG	0.547													T	62563573	C	T	62563573	3	4	248	1	0	0	0	0	1	0	0	0	10782	536	19	1	457	1	NXF1	11	62563573	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	74714	62563573	72442943	987	122994											
SLC3A2	6520	broad.mit.edu	37	chr11	62648709	62648709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagctgctgaaggtgGcaggcagccccggctgggta	19	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:62648709G>A	uc001nwd.2	+	4	741	c.517G>A	c.(517-519)GCA>ACA	p.A173T	SLC3A2_uc001nwb.2_Missense_Mutation_p.A204T|SLC3A2_uc001nwc.2_Missense_Mutation_p.A174T|SLC3A2_uc001nwe.2_Missense_Mutation_p.A142T|SLC3A2_uc001nwf.2_Missense_Mutation_p.A111T|SLC3A2_uc001nwg.2_Missense_Mutation_p.A72T|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	173	Cytoplasmic (Potential).				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				0						GCTGAAGGTGGCAGGCAGCCC	0.652											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	62648709	G	A	62648709	3	1	248	1	0	0	0	0	1	0	0	0	14627	1203	42	2	631	2	SLC3A2	11	62648709	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	85136	62648709	72357807	988	122995											
C11orf84	144097	broad.mit.edu	37	chr11	63594444	63594444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggatctccaggttatcCgcgtgcggatggaggagccc	14	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63594444C>T	uc001nxt.2	+	6	1215	c.979C>T	c.(979-981)CGC>TGC	p.R327C	C11orf84_uc001nxu.1_RNA	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	327											0						CCAGGTTATCCGCGTGCGGAT	0.677													T	63594444	C	T	63594444	3	4	248	1	0	0	0	0	1	0	0	0	1667	652	23	1	1001	1	C11orf84	11	63594444	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	945735	63594444	71412072	989	122996											
MARK2	2011	broad.mit.edu	37	chr11	63672362	63672362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccggggtgtgtccagccGaagcaccttccatgctgggc	13	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63672362G>A	uc001nxw.2	+	16	2360	c.1781G>A	c.(1780-1782)CGA>CAA	p.R594Q	MARK2_uc001nxx.2_Missense_Mutation_p.R540Q|MARK2_uc001nxy.2_Missense_Mutation_p.R539Q|MARK2_uc001nxv.3_Missense_Mutation_p.R539Q|MARK2_uc001nxz.3_Missense_Mutation_p.R560Q|MARK2_uc009yoy.2_Missense_Mutation_p.R514Q	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	594					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			stomach(1)|ovary(1)|lung(1)	3						GTGTCCAGCCGAAGCACCTTC	0.667													A	63672362	G	A	63672362	3	1	248	1	0	0	0	0	1	0	0	0	9313	1058	37	1	1843	1	MARK2	11	63672362	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	77918	63672362	71334154	990	122997											
NAA40	79829	broad.mit.edu	37	chr11	63719965	63719965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtacctcatcgcgtgggAaaacagctccgtccctgttg	11	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63719965A>G	uc009yoz.2	+	5	465	c.338A>G	c.(337-339)GAA>GGA	p.E113G	NAA40_uc010rmw.1_Missense_Mutation_p.E73G|NAA40_uc010rmx.1_Missense_Mutation_p.E92G|NAA40_uc010rmy.1_5'Flank	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	N-acetyltransferase 11	113	N-acetyltransferase.						N-acetyltransferase activity				0						ATCGCGTGGGAAAACAGCTCC	0.572													G	63719965	A	G	63719965	3	3	248	1	0	0	0	0	1	0	0	0	10125	246	9	3	356	3	NAA40	11	63719965	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	47603	63719965	71286551	991	122998											
OTUB1	55611	broad.mit.edu	37	chr11	63764867	63764867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccacatccacatcattgCgctggcccaggccctcagcg	9	18	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63764867C>T	uc001nyf.1	+	7	1269	c.665C>T	c.(664-666)GCG>GTG	p.A222V	OTUB1_uc001nyg.1_Missense_Mutation_p.A265V|OTUB1_uc010rmz.1_Missense_Mutation_p.A259V|OTUB1_uc010rna.1_Missense_Mutation_p.A231V|OTUB1_uc009ypa.2_Missense_Mutation_p.A121V|OTUB1_uc009ypb.1_Missense_Mutation_p.A192V	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	222	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						CACATCATTGCGCTGGCCCAG	0.682													T	63764867	C	T	63764867	3	4	248	1	0	0	0	0	1	0	0	0	11311	768	27	1	691	1	OTUB1	11	63764867	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	44902	63764867	71241649	992	122999											
PPP1R14B	26472	broad.mit.edu	37	chr11	64014017	64014017	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgggccctcatcgtccgcCccgcccgggccctctcctgc	10	22	2	0	rs1063811		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64014017C>G	uc001nza.2	-	1	397	c.129G>C	c.(127-129)GGG>GGC	p.G43G		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B	43					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						CATCGTCCGCCCCGCCCGGGC	0.572													G	64014017	C	G	64014017	2	3	248	1	0	0	0	0	0	0	0	1	12360	610	22	5		5	PPP1R14B	11	64014017	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	249150	64014017	70992499	993	123000											
PPP1R14B	26472	broad.mit.edu	37	chr11	64014040	64014040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggccctctcctgcggCcccgggggggctctgaaagt	16	16	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64014040C>T	uc001nza.2	-	1	374	c.106G>A	c.(106-108)GCC>ACC	p.A36T		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B	36					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						TCTCCTGCGGCCCCGGGGGGG	0.547													T	64014040	C	T	64014040	3	4	248	1	0	0	0	0	1	0	0	0	12360	739	26	2	353	2	PPP1R14B	11	64014040	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	23	64014040	70992476	994	123001											
PLCB3	5331	broad.mit.edu	37	chr11	64030200	64030200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcctccctgttgatacgCggcgcaagtaccgcacccgg	12	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64030200C>T	uc001nzb.2	+	19	2275	c.2275C>T	c.(2275-2277)CGG>TGG	p.R759W	PLCB3_uc009ypg.1_Missense_Mutation_p.R759W|PLCB3_uc009yph.1_Missense_Mutation_p.R692W|PLCB3_uc009ypi.2_Missense_Mutation_p.R759W	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	759	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						TGTTGATACGCGGCGCAAGTA	0.632													T	64030200	C	T	64030200	3	4	248	1	0	0	0	0	1	0	0	0	12029	759	27	1	2349	1	PLCB3	11	64030200	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	16160	64030200	70976316	995	123002											
C11orf2	738	broad.mit.edu	37	chr11	64877351	64877351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccggaatgtgcgggccGtcatgaagcgggtggtggag	19	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64877351G>A	uc001ocr.1	+	7	1874	c.1834G>A	c.(1834-1836)GTC>ATC	p.V612I	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.V488I	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	612					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGTGCGGGCCGTCATGAAGCG	0.652													A	64877351	G	A	64877351	3	1	248	1	0	0	0	0	1	0	0	0	1633	1145	40	1	1860	1	C11orf2	11	64877351	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	847151	64877351	70129165	996	123003											
CAPN1	823	broad.mit.edu	37	chr11	64974022	64974022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcagttcatcaacctgcGagaggtcagcacccgcttcc	10	14	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64974022G>A	uc009yqd.1	+	13	1553	c.1442G>A	c.(1441-1443)CGA>CAA	p.R481Q	CAPN1_uc001odf.1_Missense_Mutation_p.R481Q|CAPN1_uc001odg.1_Missense_Mutation_p.R481Q|CAPN1_uc010roa.1_Missense_Mutation_p.R222Q	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	481	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ATCAACCTGCGAGAGGTCAGC	0.647													A	64974022	G	A	64974022	3	1	248	1	0	0	0	0	1	0	0	0	2622	1058	37	1	1488	1	CAPN1	11	64974022	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	96671	64974022	70032494	997	123004											
POLA2	23649	broad.mit.edu	37	chr11	65055240	65055240	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatacaccacatctgacAgcatcacgtatgaccccctg	6	16	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65055240A>C	uc001odj.2	+	11	1402	c.1060A>C	c.(1060-1062)AGC>CGC	p.S354R	POLA2_uc010rod.1_Missense_Mutation_p.S146R|POLA2_uc001odk.2_Missense_Mutation_p.S51R	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	354					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	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	CACATCTGACAGCATCACGTA	0.493													C	65055240	A	C	65055240	3	2	248	1	0	0	0	0	1	0	0	0	12188	188	7	5	1102	5	POLA2	11	65055240	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	81218	65055240	69951276	998	123005											
FRMD8	83786	broad.mit.edu	37	chr11	65161866	65161866	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagcttgggccctaccAgcccggccggccggcagcct	14	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65161866A>C	uc001odu.3	+	6	743	c.551A>C	c.(550-552)CAG>CCG	p.Q184P	FRMD8_uc009yqj.2_Missense_Mutation_p.Q128P|FRMD8_uc010rof.1_Missense_Mutation_p.Q150P	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	184	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						GGGCCCTACCAGCCCGGCCGG	0.687													C	65161866	A	C	65161866	3	2	248	1	0	0	0	0	1	0	0	0	6056	188	7	5	569	5	FRMD8	11	65161866	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	106626	65161866	69844650	999	123006											
EHBP1L1	254102	broad.mit.edu	37	chr11	65347646	65347646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtcccagtgaggctgcGgctgaagccaaagtcagtga	13	11	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65347646G>A	uc001oeo.3	+	5	672	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	136										central_nervous_system(1)	1						GTGAGGCTGCGGCTGAAGCCA	0.672													A	65347646	G	A	65347646	3	1	248	1	0	0	0	0	1	0	0	0	4976	1116	39	1	425	1	EHBP1L1	11	65347646	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	185780	65347646	69658870	1000	123007											
KCNK7	10089	broad.mit.edu	37	chr11	65360996	65360996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacggggtgcaggctgcgGccgcggccgggcagcaagtc	18	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65360996G>A	uc001oes.2	-	2	893	c.669C>T	c.(667-669)GGC>GGT	p.G223G	KCNK7_uc001oeq.2_Silent_p.G223G|KCNK7_uc001oer.2_Silent_p.G223G|KCNK7_uc001oeu.2_Silent_p.G223G	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	223						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						GCAGGCTGCGGCCGCGGCCGG	0.657													A	65360996	G	A	65360996	2	1	248	1	0	0	0	0	0	0	0	1	8071	1190	42	2		2	KCNK7	11	65360996	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	13350	65360996	69645520	1001	123008											
RELA	5970	broad.mit.edu	37	chr11	65422382	65422382	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggccaaggccgaggcctGgctgatctgcccagaaggaa	16	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65422382G>A	uc001ofg.2	-	11	1263	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*	RELA_uc001ofh.2_Nonsense_Mutation_p.Q372*|RELA_uc010ron.1_Nonsense_Mutation_p.Q386*|RELA_uc009yqr.2_Nonsense_Mutation_p.Q322*|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Nonsense_Mutation_p.Q375*	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	375				QISQASALA -> RSARPRLG (in Ref. 2; CAA80524).	anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						gccgaggcCTGGCTGATCTGC	0.279													A	65422382	G	A	65422382	4	1	248	1	0	0	0	0	0	1	0	0	13216	1357	47	4	536	4	RELA	11	65422382	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	61386	65422382	69584134	1002	123009											
SART1	9092	broad.mit.edu	37	chr11	65733549	65733549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtgctgcccccaggcGtgctgcaggaggaggaggac	17	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65733549G>A	uc001ogl.2	+	8	933	c.841G>A	c.(841-843)GTG>ATG	p.V281M	SART1_uc010rot.1_Missense_Mutation_p.V123M	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	281					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				ovary(1)	1						GCCCCCAGGCGTGCTGCAGGA	0.597													A	65733549	G	A	65733549	3	1	248	1	0	0	0	0	1	0	0	0	13846	1145	40	1	871	1	SART1	11	65733549	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	311167	65733549	69272967	1003	123010											
DPP3	10072	broad.mit.edu	37	chr11	66260284	66260284	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctgccctggcccccaacCtttgagaaggacaagttcct	10	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66260284C>A	uc001oig.1	+	10	1148	c.1086C>A	c.(1084-1086)ACC>ACA	p.T362T	DPP3_uc001oif.1_Silent_p.T362T|DPP3_uc010rpe.1_Silent_p.T351T	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	362					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GGCCCCCAACCTTTGAGAAGG	0.597													A	66260284	C	A	66260284	2	1	248	1	0	0	0	0	0	0	0	1	4728	668	24	5		5	DPP3	11	66260284	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	526735	66260284	68746232	1004	123011											
DPP3	10072	broad.mit.edu	37	chr11	66263135	66263135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggctgatgcggaggacGtgatctacgtgaactggctc	17	8	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66263135G>A	uc001oig.1	+	15	1674	c.1612G>A	c.(1612-1614)GTG>ATG	p.V538M	DPP3_uc001oif.1_Missense_Mutation_p.V538M|DPP3_uc010rpe.1_Missense_Mutation_p.V527M|DPP3_uc001oih.1_5'Flank	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	538					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TGCGGAGGACGTGATCTACGT	0.617													A	66263135	G	A	66263135	3	1	248	1	0	0	0	0	1	0	0	0	4728	1145	40	1	1666	1	DPP3	11	66263135	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2851	66263135	68743381	1005	123012											
CCDC87	55231	broad.mit.edu	37	chr11	66359045	66359046	+	Frame_Shift_Ins	INS	-	-	T													aacaaagttatcaatatccaINSttttttcaatggctttggga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66359045_66359046insT	uc001oiq.3	-	1	1509_1510	c.1441_1442insA	c.(1441-1443)ATGfs	p.M481fs	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	481										ovary(1)|skin(1)	2						ATCAATATCCATTTTTTCAATG	0.46													T	66359046	-	T	66359045	7	5	248	1	0	1	1	0	0	0	0	0	2862	217	8	0	1111	0	CCDC87	11	66359045	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	95910	66359045	68647471	1006	123013	640	2									
CCDC87	55231	broad.mit.edu	37	chr11	66359046	66359047	+	Frame_Shift_Ins	INS	-	-	T													acaaagttatcaatatccatINStttttcaatggctttgggat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66359045_66359046A>AT	uc001oiq.4	-	0	1509_1510	c.1441_1442T>AT	c.(1441-1443)atgfs	p.M481fs	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	481										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCAATATCCATTTTTTCAATG	0.46													T	66359047	-	T	66359046	7	5	248	1	0	1	1	0	0	0	0	0	2862	1493	52	0	1112	0	CCDC87	11	66359046	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	66359046	68647470	1007	123014	640	2									
TCIRG1	10312	broad.mit.edu	37	chr11	67815010	67815010	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtccttgcggagaacCgaccggctgtgaaggccgcg	15	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:67815010C>T	uc001one.2	+	11	1384	c.1276C>T	c.(1276-1278)CGA>TGA	p.R426*	TCIRG1_uc001ong.2_Nonsense_Mutation_p.R210*|TCIRG1_uc001onh.2_Nonsense_Mutation_p.R128*|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	426	Lumenal (Potential).				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			ovary(1)	1						TGCGGAGAACCGACCGGCTGT	0.657													T	67815010	C	T	67815010	4	4	248	1	0	0	0	0	0	1	0	0	15700	644	23	1	1314	1	TCIRG1	11	67815010	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1455964	67815010	67191506	1008	123015											
CHKA	1119	broad.mit.edu	37	chr11	67833931	67833931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtattcgaaatcaatgagCatcagtttctgtttttcaga	7	7	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:67833931C>T	uc001onj.2	-	8	1195	c.981G>A	c.(979-981)ATG>ATA	p.M327I	CHKA_uc001onk.2_Missense_Mutation_p.M309I	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	327					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)	AATCAATGAGCATCAGTTTCT	0.348													T	67833931	C	T	67833931	3	4	248	1	0	0	0	0	1	0	0	0	3347	710	25	2	412	2	CHKA	11	67833931	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	18921	67833931	67172585	1009	123016											
CLPB	81570	broad.mit.edu	37	chr11	72040798	72040798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacttccccttctcgggCataatccaagggtgtgtgtc	9	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:72040798C>T	uc001osj.2	-	7	966	c.916G>A	c.(916-918)GCC>ACC	p.A306T	CLPB_uc010rqx.1_Missense_Mutation_p.A261T|CLPB_uc010rqy.1_Missense_Mutation_p.A247T|CLPB_uc001osk.2_Missense_Mutation_p.A276T|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A105T	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	306	ANK 4.				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						CCTTCTCGGGCATAATCCAAG	0.512													T	72040798	C	T	72040798	3	4	248	1	0	0	0	0	1	0	0	0	3551	710	25	2	1251	2	CLPB	11	72040798	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4206867	72040798	62965718	1010	123017											
P2RY2	5029	broad.mit.edu	37	chr11	72945324	72945324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctgcctgtgtcctaCggcgtggtgtgcgtgcctgg	17	11	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:72945324C>T	uc001otj.2	+	3	453	c.120C>T	c.(118-120)TAC>TAT	p.Y40Y	P2RY2_uc001otk.2_Silent_p.Y40Y|P2RY2_uc001otl.2_Silent_p.Y40Y	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	40	Helical; Name=1; (Potential).				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			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CTGTGTCCTACGGCGTGGTGT	0.582													T	72945324	C	T	72945324	2	4	248	1	0	0	0	0	0	0	0	1	11352	547	19	1		1	P2RY2	11	72945324	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	904526	72945324	62061192	1011	123018											
ARHGEF17	9828	broad.mit.edu	37	chr11	73076806	73076806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggagctgctgtgggtgGgcaccagtgctggtgtcgtc	19	8	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:73076806G>A	uc001otu.2	+	20	5830	c.5809G>A	c.(5809-5811)GGC>AGC	p.G1937S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1937					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				0						GCTGTGGGTGGGCACCAGTGC	0.652													A	73076806	G	A	73076806	3	1	248	1	0	0	0	0	1	0	0	0	900	1232	43	4	5887	4	ARHGEF17	11	73076806	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	131482	73076806	61929710	1012	123019											
UCP3	7352	broad.mit.edu	37	chr11	73712551	73712551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgttccaggatcccaaaCgcaaaaaggagggtgtaaat	10	10	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:73712551C>T	uc001our.2	-	7	1200	c.845G>A	c.(844-846)CGT>CAT	p.R282H		NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	282	Purine nucleotide binding (By similarity).|Helical; Name=6; (Potential).|Solcar 3.				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)					GGATCCCAAACGCAAAAAGGA	0.493													T	73712551	C	T	73712551	3	4	248	1	0	0	0	0	1	0	0	0	16929	536	19	1	97	1	UCP3	11	73712551	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	635745	73712551	61293965	1013	123020											
P4HA3	283208	broad.mit.edu	37	chr11	74013510	74013510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgactctctgaaagacAcctcgggccaggcctttcac	9	15	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:74013510A>G	uc001ouz.2	-	3	514	c.471T>C	c.(469-471)GGT>GGC	p.G157G	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.G157G	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	157						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TCTGAAAGACACCTCGGGCCA	0.557													G	74013510	A	G	74013510	2	3	248	1	0	0	0	0	0	0	0	1	11358	146	6	3		3	P4HA3	11	74013510	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	300959	74013510	60993006	1014	123021											
MAP6	4135	broad.mit.edu	37	chr11	75316960	75316960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggcagcctggcctgaCaccgcctgcttgtctttggc	11	14	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:75316960C>T	uc001owu.2	-	3	1274	c.1209G>A	c.(1207-1209)GTG>GTA	p.V403V	MAP6_uc001owv.2_Silent_p.V403V	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	403						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					CCTGGCCTGACACCGCCTGCT	0.532													T	75316960	C	T	75316960	2	4	248	1	0	0	0	0	0	0	0	1	9264	465	17	4		4	MAP6	11	75316960	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1303450	75316960	59689556	1015	123022											
LRRC32	2615	broad.mit.edu	37	chr11	76371225	76371225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggattggaagaaaggtccAgctcagtcagtggggtgtgg	17	6	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76371225A>G	uc001oxq.3	-	3	1655	c.1412T>C	c.(1411-1413)CTG>CCG	p.L471P	LRRC32_uc001oxr.3_Missense_Mutation_p.L471P|LRRC32_uc010rsf.1_Missense_Mutation_p.L471P	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	471	LRR 17.|Extracellular (Potential).					integral to plasma membrane					0						AGAAAGGTCCAGCTCAGTCAG	0.647													G	76371225	A	G	76371225	3	3	248	1	0	0	0	0	1	0	0	0	8987	188	7	3	580	3	LRRC32	11	76371225	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1054265	76371225	58635291	1016	123023											
B3GNT6	192134	broad.mit.edu	37	chr11	76750724	76750724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgggaggagaggtccccGcaggaggagacgccagaggg	20	11	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76750724G>A	uc001oxw.2	+	2	217	c.129G>A	c.(127-129)CCG>CCA	p.P43P		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	43	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						AGAGGTCCCCGCAGGAGGAGA	0.716											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	76750724	G	A	76750724	2	1	248	1	0	0	0	0	0	0	0	1	1261	1074	38	1		1	B3GNT6	11	76750724	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	379499	76750724	58255792	1017	123024											
MYO7A	4647	broad.mit.edu	37	chr11	76873961	76873962	+	Frame_Shift_Ins	INS	-	-	C													agctcaacgccaactacatcINSccccccaagaacaaccatga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76873960_76873961T>TC	uc001oyb.2	+	13	1888_1889	c.1616_1617T>TC	c.(1615-1617)atcfs	p.I539fs	MYO7A_uc010rsl.2_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	539	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	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													C	76873962	-	C	76873961	7	5	248	1	0	1	1	0	0	0	0	0	10082	845	30	0	1667	0	MYO7A	11	76873961	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	123237	76873961	58132555	1018	123025											
MYO7A	4647	broad.mit.edu	37	chr11	76916549	76916549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctctggctgtgcacGggccttttcccacccagcaa	11	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76916549G>A	uc001oyb.2	+	40	5795	c.5523G>A	c.(5521-5523)ACG>ACA	p.T1841T	MYO7A_uc001oyc.2_Silent_p.T1803T|MYO7A_uc001oye.2_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1841	MyTH4 2.				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			ovary(3)|breast(1)	4						GGCTGTGCACGGGCCTTTTCC	0.667													A	76916549	G	A	76916549	2	1	248	1	0	0	0	0	0	0	0	1	10082	1103	39	1		1	MYO7A	11	76916549	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	42588	76916549	58089967	1019	123026											
ODZ4	26011	broad.mit.edu	37	chr11	78369243	78369244	+	Frame_Shift_Ins	INS	-	-	C													ctcagcacctgctgcttctcINScccctctgtccaggcccgca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:78369242_78369243T>TC	uc001ozl.4	-	33	8633_8634	c.8170_8171A>GA	c.(8170-8172)gagfs	p.E2724fs	ODZ4_uc001ozk.4_Frame_Shift_Ins_p.E949fs	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2724					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTGCTGCTTCTCCCCCTCTGTC	0.658													C	78369244	-	C	78369243	7	5	248	1	0	1	1	0	0	0	0	0	10837	864	30	0	143	0	ODZ4	11	78369243	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1452694	78369243	56637273	1020	123027											
ODZ4	26011	broad.mit.edu	37	chr11	78423591	78423591	+	Frame_Shift_Del	DEL	G	G	-													ccgcagcgagtgtcatcaaaGgggaggcactggtcacctgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:78423590_78423590AG>A	uc001ozl.4	-	25	4454	c.3991_3991CT>T	c.(3991-3993)tttfs	p.F1331fs		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1331					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGTCATCAAAGGGGAGGCAC	0.542													-	78423591	G	-	78423591	7	5	248	1	0	1	0	1	0	0	0	0	10837	987	35	0	4355	0	ODZ4	11	78423591	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	54348	78423591	56582925	1021	123028											
PIWIL4	143689	broad.mit.edu	37	chr11	94326704	94326704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatgatattactgtatcGgacctgaatcagcccatgct	8	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:94326704G>A	uc001pfa.2	+	9	1258	c.1047G>A	c.(1045-1047)TCG>TCA	p.S349S	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	349	PAZ.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTACTGTATCGGACCTGAATC	0.413													A	94326704	G	A	94326704	2	1	248	1	0	0	0	0	0	0	0	1	11960	1103	39	1		1	PIWIL4	11	94326704	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	15903113	94326704	40679812	1022	123029											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027444	103027444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttggaacccattttcggcCgtggagcattgccaaaagaa	10	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:103027444C>T	uc001pho.2	+	26	4216	c.4072C>T	c.(4072-4074)CGT>TGT	p.R1358C	DYNC2H1_uc001phn.1_Missense_Mutation_p.R1358C|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1358	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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTTTCGGCCGTGGAGCATT	0.363													T	103027444	C	T	103027444	3	4	248	1	0	0	0	0	1	0	0	0	4846	652	23	1	4174	1	DYNC2H1	11	103027444	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	8700740	103027444	31979072	1023	123030											
PDGFD	80310	broad.mit.edu	37	chr11	103866791	103866791	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cataaagtggttaagtactcAccagcaaagaataataaatc	6	7	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:103866791A>G	uc001phq.2	-	3	882	c.510_splice	c.e3+1	p.L170_splice	PDGFD_uc001php.2_Splice_Site_p.L164_splice	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1						positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		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)		TTAAGTACTCACCAGCAAAGA	0.343													G	103866791	A	G	103866791	5	3	248	1	0	0	0	0	0	0	1	0	11660	173	6	3	620	3	PDGFD	11	103866791	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	839347	103866791	31139725	1024	123031											
CASP5	838	broad.mit.edu	37	chr11	104871161	104871161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacatgagtaccaagaacGtgctgtcagaggacttgtgc	13	8	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:104871161G>A	uc010rva.1	-	6	811	c.779C>T	c.(778-780)ACG>ATG	p.T260M	CASP5_uc010ruz.1_Missense_Mutation_p.T273M|CASP5_uc010rvb.1_Missense_Mutation_p.T202M|CASP5_uc010rvc.1_Missense_Mutation_p.T118M|CASP5_uc009yxh.2_Missense_Mutation_p.T42M|CASP5_uc010rvd.1_Missense_Mutation_p.T42M	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	260					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		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)		TACCAAGAACGTGCTGTCAGA	0.468													A	104871161	G	A	104871161	3	1	248	1	0	0	0	0	1	0	0	0	2674	1145	40	1	541	1	CASP5	11	104871161	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1004370	104871161	30135355	1025	123032											
RAB39	54734	broad.mit.edu	37	chr11	107799374	107799374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcctgcctcctgcaccGcttcacccagggccgcttcc	8	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:107799374G>A	uc001pjt.2	+	1	98	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_017516	NP_059986	Q14964	RB39A_HUMAN	RAB39, member RAS oncogene family	27					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0				BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)		CTCCTGCACCGCTTCACCCAG	0.687													A	107799374	G	A	107799374	3	1	248	1	0	0	0	0	1	0	0	0	12929	1087	38	1	82	1	RAB39	11	107799374	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2928213	107799374	27207142	1026	123033											
CUL5	8065	broad.mit.edu	37	chr11	107975052	107975052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaaatagagtggctaataGagcacaaatacatcagaaga	9	6	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:107975052G>A	uc001pjv.2	+	19	2951	c.2284G>A	c.(2284-2286)GAG>AAG	p.E762K	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	762					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			ovary(1)	1		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)		GTGGCTAATAGAGCACAAATA	0.303													A	107975052	G	A	107975052	3	1	248	1	0	0	0	0	1	0	0	0	4059	943	33	4	2358	4	CUL5	11	107975052	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	175678	107975052	27031464	1027	123034											
ATM	472	broad.mit.edu	37	chr11	108202191	108202191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagacggaatgaagattccAacatataaatttttgcctct	7	7	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:108202191A>G	uc001pkb.1	+	51	7921	c.7536A>G	c.(7534-7536)CCA>CCG	p.P2512P	ATM_uc009yxr.1_Silent_p.P2512P|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA|ATM_uc001pke.1_Silent_p.P1164P|ATM_uc001pkg.1_Silent_p.P869P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2512	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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		TGAAGATTCCAACATATAAAT	0.333			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)			G	108202191	A	G	108202191	2	3	248	1	0	0	0	0	0	0	0	1	1109	117	5	3		3	ATM	11	108202191	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	227139	108202191	26804325	1028	123035											
UBE4A	9354	broad.mit.edu	37	chr11	118245730	118245730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgcatgcaaatgcaggCcgcaccaagatttgggccaa	11	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118245730C>T	uc001psw.2	+	9	1365	c.1236C>T	c.(1234-1236)GGC>GGT	p.G412G	UBE4A_uc001psv.2_Silent_p.G419G	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	412					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		CAAATGCAGGCCGCACCAAGA	0.448													T	118245730	C	T	118245730	2	4	248	1	0	0	0	0	0	0	0	1	16879	726	26	2		2	UBE4A	11	118245730	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10043539	118245730	16760786	1029	123036											
MLL	4297	broad.mit.edu	37	chr11	118343854	118343854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccactaactcccgaggaCgttggctttgcatctggttt	9	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118343854C>T	uc001pta.2	+	3	2003	c.1980C>T	c.(1978-1980)GAC>GAT	p.D660D	MLL_uc001ptb.2_Silent_p.D660D|MLL_uc001psz.1_Silent_p.D693D|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	660					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCCCGAGGACGTTGGCTTTG	0.458			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118343854	C	T	118343854	2	4	248	1	0	0	0	0	0	0	0	1	9620	535	19	1		1	MLL	11	118343854	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	98124	118343854	16662662	1030	123037											
MLL	4297	broad.mit.edu	37	chr11	118379895	118379895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgacccaaaatccagCaaatgaacaagaaagtgcag	9	9	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118379895C>T	uc001pta.2	+	29	10894	c.10871C>T	c.(10870-10872)GCA>GTA	p.A3624V	MLL_uc001ptb.2_Missense_Mutation_p.A3627V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3624					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAAATCCAGCAAATGAACAA	0.269			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118379895	C	T	118379895	3	4	248	1	0	0	0	0	1	0	0	0	9620	710	25	2	10985	2	MLL	11	118379895	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	36041	118379895	16626621	1031	123038											
ARCN1	372	broad.mit.edu	37	chr11	118451978	118451978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgctgttggcagcagcGgtctgcacaaaagcaggaaa	14	9	1	0	rs142869705	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118451978G>A	uc001ptq.2	+	2	182	c.21G>A	c.(19-21)GCG>GCA	p.A7A	ARCN1_uc009zah.2_Silent_p.A7A|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Silent_p.A48A	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	7					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	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)		TGGCAGCAGCGGTCTGCACAA	0.428													A	118451978	G	A	118451978	2	1	248	1	0	0	0	0	0	0	0	1	842	1103	39	1		1	ARCN1	11	118451978	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	72083	118451978	16554538	1032	123039											
BCL9L	283149	broad.mit.edu	37	chr11	118770652	118770653	+	Frame_Shift_Ins	INS	-	-	G													ggagccctgcggtggtggtgINSgggggggcagcaggggccgg					rs139987150		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118770651_118770652T>TG	uc001pug.3	-	6	4345_4346	c.3380_3381A>CA	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	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)		GCGGTGGTGGTGGGGGGGGCAG	0.703													G	118770653	-	G	118770652	7	5	248	1	0	1	1	0	0	0	0	0	1382	1348	47	0	1127	0	BCL9L	11	118770652	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	318674	118770652	16235864	1033	123040											
HYOU1	10525	broad.mit.edu	37	chr11	118922809	118922809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccacactcacttgcccaCggccttcagcagcacctcct	5	22	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118922809C>T	uc001puu.2	-	11	1391	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	HYOU1_uc001put.2_Missense_Mutation_p.V365M|HYOU1_uc010ryu.1_Missense_Mutation_p.V420M|HYOU1_uc010ryv.1_Missense_Mutation_p.V289M|HYOU1_uc001pux.3_Missense_Mutation_p.V400M|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.V400M	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	400						endoplasmic reticulum lumen	ATP binding|protein binding				0	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)		CACTTGCCCACGGCCTTCAGC	0.632													T	118922809	C	T	118922809	3	4	248	1	0	0	0	0	1	0	0	0	7470	536	19	1	1865	1	HYOU1	11	118922809	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	152157	118922809	16083707	1034	123041											
HINFP	25988	broad.mit.edu	37	chr11	119003254	119003254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagatttgccacagagcGgctattgcgggaccacatgc	12	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:119003254G>A	uc001pvp.2	+	7	914	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	HINFP_uc001pvq.2_Missense_Mutation_p.R242Q|HINFP_uc001pvr.2_5'UTR	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	242	C2H2-type 5.				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			pancreas(2)|ovary(1)|skin(1)	4						GCCACAGAGCGGCTATTGCGG	0.592													A	119003254	G	A	119003254	3	1	248	1	0	0	0	0	1	0	0	0	7110	1116	39	1	743	1	HINFP	11	119003254	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	80445	119003254	16003262	1035	123042											
MCAM	4162	broad.mit.edu	37	chr11	119183610	119183610	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagaatactctgcaaGgtgtacaaaccactcgactc	7	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:119183610G>T	uc001pwf.2	-	6	638	c.609C>A	c.(607-609)ACC>ACA	p.T203T	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	203	Ig-like V-type 2.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TACTCTGCAAGGTGTACAAAC	0.557													T	119183610	G	T	119183610	2	4	248	1	0	0	0	0	0	0	0	1	9368	987	35	5		5	MCAM	11	119183610	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	180356	119183610	15822906	1036	123043											
USP2	9099	broad.mit.edu	37	chr11	119243475	119243475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggcctgaccctttcccGtctcccacagcgtgtagcgg	12	16	1	1	rs144635804	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:119243475G>A	uc001pwm.3	-	2	1011	c.716C>T	c.(715-717)ACG>ATG	p.T239M	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	239					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ACCCTTTCCCGTCTCCCACAG	0.662													A	119243475	G	A	119243475	3	1	248	1	0	0	0	0	1	0	0	0	17048	1145	40	1	1300	1	USP2	11	119243475	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	59865	119243475	15763041	1037	123044											
ARHGEF12	23365	broad.mit.edu	37	chr11	120322250	120322250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaactacagaaggcgCgccaccctaagcacttatcc	8	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:120322250C>T	uc001pxl.1	+	22	1880	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	ARHGEF12_uc009zat.2_Missense_Mutation_p.R606C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R522C|ARHGEF12_uc009zau.1_Missense_Mutation_p.R522C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	625					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			lung(2)|breast(2)|skin(2)|ovary(1)	7		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)		ACAGAAGGCGCGCCACCCTAA	0.408			T	MLL	AML								T	120322250	C	T	120322250	3	4	248	1	0	0	0	0	1	0	0	0	897	768	27	1	1959	1	ARHGEF12	11	120322250	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1078775	120322250	14684266	1038	123045											
UBASH3B	84959	broad.mit.edu	37	chr11	122678880	122678880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacttcgtacaaatggtccGaaaggtaattcattctcgta	9	8	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:122678880G>A	uc001pyi.3	+	13	2168	c.1808G>A	c.(1807-1809)CGA>CAA	p.R603Q		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	603	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CAAATGGTCCGAAAGGTAATT	0.473													A	122678880	G	A	122678880	3	1	248	1	0	0	0	0	1	0	0	0	16837	1058	37	1	1858	1	UBASH3B	11	122678880	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2356630	122678880	12327636	1039	123046											
C11orf63	79864	broad.mit.edu	37	chr11	122795636	122795636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagagtaacagacaagaCgtctattcagaatgccaagg	10	9	3	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:122795636C>T	uc001pym.2	+	4	1193	c.896C>T	c.(895-897)ACG>ATG	p.T299M		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	299										ovary(3)	3		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)		ACAGACAAGACGTCTATTCAG	0.313													T	122795636	C	T	122795636	3	4	248	1	0	0	0	0	1	0	0	0	1654	536	19	1	970	1	C11orf63	11	122795636	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	116756	122795636	12210880	1040	123047											
OR8D4	338662	broad.mit.edu	37	chr11	123777975	123777975	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatcctcagtattttatacCactgtgattctcatgttgaa	6	8	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:123777975C>A	uc010saa.1	+	1	837	c.837C>A	c.(835-837)ACC>ACA	p.T279T		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		TATTTTATACCACTGTGATTC	0.363													A	123777975	C	A	123777975	2	1	248	1	0	0	0	0	0	0	0	1	11233	581	21	5		5	OR8D4	11	123777975	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	982339	123777975	11228541	1041	123048											
OR6T1	219874	broad.mit.edu	37	chr11	123814164	123814164	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcatagcggagtggtcGgcagattgccaggtaacgat	15	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:123814164G>A	uc010sab.1	-	1	382	c.382C>T	c.(382-384)CGA>TGA	p.R128*		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		CGGAGTGGTCGGCAGATTGCC	0.542													A	123814164	G	A	123814164	4	1	248	1	0	0	0	0	0	1	0	0	11210	1124	39	1	592	1	OR6T1	11	123814164	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	36189	123814164	11192352	1042	123049											
VWA5A	4013	broad.mit.edu	37	chr11	124006953	124006953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagactgtcatctttAggggtcagagattaatcagc	10	8	4	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:124006953A>G	uc001pzu.2	+	13	1686	c.1477A>G	c.(1477-1479)AGG>GGG	p.R493G	VWA5A_uc001pzt.2_Missense_Mutation_p.R493G	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	493										upper_aerodigestive_tract(1)|ovary(1)	2						TGTCATCTTTAGGGGTCAGAG	0.498													G	124006953	A	G	124006953	3	3	248	1	0	0	0	0	1	0	0	0	17239	411	15	3	1523	3	VWA5A	11	124006953	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	192789	124006953	10999563	1043	123050											
SLC37A2	219855	broad.mit.edu	37	chr11	124951749	124951749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggccaaatgctccaagGggccatgcgaagagcctgct	13	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:124951749G>A	uc001qbn.2	+	9	1083	c.832G>A	c.(832-834)GGG>AGG	p.G278R	SLC37A2_uc010sau.1_Missense_Mutation_p.G278R|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	278					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ATGCTCCAAGGGGCCATGCGA	0.572													A	124951749	G	A	124951749	3	1	248	1	0	0	0	0	1	0	0	0	14598	1232	43	4	866	4	SLC37A2	11	124951749	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	944796	124951749	10054767	1044	123051											
HYLS1	219844	broad.mit.edu	37	chr11	125769531	125769531	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggcctcccaaagactcCgaaagccagtgatgaagaga	11	11	0	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:125769531C>T	uc009zbv.2	+	4	802	c.268C>T	c.(268-270)CGA>TGA	p.R90*	HYLS1_uc001qcx.3_Nonsense_Mutation_p.R90*|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	90						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAAAGACTCCGAAAGCCAGT	0.483													T	125769531	C	T	125769531	4	4	248	1	0	0	0	0	0	1	0	0	7469	644	23	1	270	1	HYLS1	11	125769531	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	817782	125769531	9236985	1045	123052											
C11orf45	219833	broad.mit.edu	37	chr11	128774454	128774454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcactgaggaccagccgcGtcaacatcactgcggcttct	11	14	3	1	rs143711749		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:128774454G>A	uc001qeu.2	-	2	202	c.8C>T	c.(7-9)ACG>ATG	p.T3M	KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.T3M|C11orf45_uc001qev.2_Missense_Mutation_p.T3M	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	hypothetical protein LOC219833 precursor	3						extracellular region					0	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gaccagccgcgtcaacatcac	0.04													A	128774454	G	A	128774454	3	1	248	1	0	0	0	0	1	0	0	0	1642	1145	40	1	441	1	C11orf45	11	128774454	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3004923	128774454	6232062	1046	123053											
ADAMTS15	170689	broad.mit.edu	37	chr11	130318984	130318984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggacattaacggccgccGctactactggcggggtcccg	13	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:130318984G>A	uc010scd.1	+	1	116	c.116G>A	c.(115-117)CGC>CAC	p.R39H		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	39					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	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)		AACGGCCGCCGCTACTACTGG	0.602													A	130318984	G	A	130318984	3	1	248	1	0	0	0	0	1	0	0	0	260	1087	38	1	118	1	ADAMTS15	11	130318984	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1544530	130318984	4687532	1047	123054											
NCAPD3	23310	broad.mit.edu	37	chr11	134073581	134073581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaggatactctccgacGcactggtaacagtcaactcc	8	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:134073581G>A	uc001qhd.1	-	11	2042	c.1436C>T	c.(1435-1437)GCG>GTG	p.A479V	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	479					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		ACTCTCCGACGCACTGGTAAC	0.488													A	134073581	G	A	134073581	3	1	248	1	0	0	0	0	1	0	0	0	10206	1087	38	1	3160	1	NCAPD3	11	134073581	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3754597	134073581	932935	1048	123055											
CACNA1C	775	broad.mit.edu	37	chr12	2778099	2778099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttctcttcgcctgcagCgcctggtctccatgaacatg	9	14	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:2778099C>T	uc009zdu.1	+	40	5081	c.4768C>T	c.(4768-4770)CGC>TGC	p.R1590C	CACNA1C_uc009zdv.1_Missense_Mutation_p.R1539C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1531C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1531C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1529C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1564C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1531C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1590C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1562C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1559C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1570C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qki.1_Missense_Mutation_p.R1278C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1278C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1278C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1267C|CACNA1C_uc010sea.1_Missense_Mutation_p.R233C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1590	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	TCGCCTGCAGCGCCTGGTCTC	0.507													T	2778099	C	T	2778099	3	4	248	1	0	0	0	0	1	0	0	0	2540	782	27	1	5100	1	CACNA1C	12	2778099	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08		2778099	131073796	1049	123056											
TSPAN9	10867	broad.mit.edu	37	chr12	3392232	3392232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcatggccttctccAtgaccctcttccagcacatc	7	17	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:3392232A>G	uc001qlp.2	+	9	817	c.670A>G	c.(670-672)ATG>GTG	p.M224V		NM_006675	NP_006666	O75954	TSN9_HUMAN	tetraspanin 9	224	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGCCTTCTCCATGACCCTCTT	0.652													G	3392232	A	G	3392232	3	3	248	1	0	0	0	0	1	0	0	0	16651	217	8	3	696	3	TSPAN9	12	3392232	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	614133	3392232	130459663	1050	123057											
FGF6	2251	broad.mit.edu	37	chr12	4554481	4554481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgttgcagtagagcctccGctgccgcttgatccccacca	9	17	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:4554481G>A	uc001qmr.1	-	1	300	c.256C>T	c.(256-258)CGG>TGG	p.R86W		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	86					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TAGAGCCTCCGCTGCCGCTTG	0.652													A	4554481	G	A	4554481	3	1	248	1	0	0	0	0	1	0	0	0	5856	1086	38	1	382	1	FGF6	12	4554481	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1162249	4554481	129297414	1051	123058											
KCNA6	3742	broad.mit.edu	37	chr12	4920011	4920011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctttctggtggagacGctgtgcattgtctggttcac	11	11	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:4920011G>A	uc001qng.2	+	1	1670	c.804G>A	c.(802-804)ACG>ACA	p.T268T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	268	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						TGGTGGAGACGCTGTGCATTG	0.562										HNSCC(72;0.22)			A	4920011	G	A	4920011	2	1	248	1	0	0	0	0	0	0	0	1	8007	1074	38	1		1	KCNA6	12	4920011	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	365530	4920011	128931884	1052	123059											
ANO2	57101	broad.mit.edu	37	chr12	5687562	5687562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttacagcatccggccGtctcagctctgtaacaaact	8	13	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:5687562G>A	uc001qnm.2	-	22	2428	c.2356C>T	c.(2356-2358)CGG>TGG	p.R786W		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	791	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GCATCCGGCCGTCTCAGCTCT	0.562													A	5687562	G	A	5687562	3	1	248	1	0	0	0	0	1	0	0	0	697	1144	40	1	660	1	ANO2	12	5687562	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	767551	5687562	128164333	1053	123060											
NCAPD2	9918	broad.mit.edu	37	chr12	6637360	6637360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccactttctgcgactcccaGcttcgtcttctgttcaccat	6	16	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6637360G>T	uc001qoo.2	+	25	3211	c.3165G>T	c.(3163-3165)CAG>CAT	p.Q1055H	NCAPD2_uc009zen.1_Missense_Mutation_p.Q927H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q1010H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1055					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GCGACTCCCAGCTTCGTCTTC	0.532													T	6637360	G	T	6637360	3	4	248	1	0	0	0	0	1	0	0	0	10205	962	34	5	3259	5	NCAPD2	12	6637360	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	949798	6637360	127214535	1054	123061											
IFFO1	25900	broad.mit.edu	37	chr12	6657677	6657677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtctcctcccaagtcaGgctgtcacagtcgtcctcaa	7	16	5	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6657677G>T	uc001qpd.1	-	6	1298	c.1264C>A	c.(1264-1266)CTG>ATG	p.L422M	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.L62M|IFFO1_uc001qpb.1_Missense_Mutation_p.L99M|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.L433M|IFFO1_uc001qpf.1_Missense_Mutation_p.L425M|IFFO1_uc001qoz.1_Missense_Mutation_p.L62M|IFFO1_uc001qpc.1_Missense_Mutation_p.L425M|IFFO1_uc001qpg.2_Missense_Mutation_p.L62M	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	422						intermediate filament					0						TCCCAAGTCAGGCTGTCACAG	0.627													T	6657677	G	T	6657677	3	4	248	1	0	0	0	0	1	0	0	0	7510	991	35	5	434	5	IFFO1	12	6657677	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	20317	6657677	127194218	1055	123062											
C12orf53	196500	broad.mit.edu	37	chr12	6806943	6806943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagagggaggaggtgggaCagcagcagcgcaggcctgca	19	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6806943C>T	uc001qqf.1	-	3	109	c.33G>A	c.(31-33)CTG>CTA	p.L11L	C12orf53_uc001qqg.1_Silent_p.L11L	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	11						integral to membrane					0						GGAGGTGGGACAGCAGCAGCG	0.657													T	6806943	C	T	6806943	2	4	248	1	0	0	0	0	0	0	0	1	1698	465	17	4		4	C12orf53	12	6806943	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	149266	6806943	127044952	1056	123063											
COPS7A	50813	broad.mit.edu	37	chr12	6838466	6838466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcgtaatgtgcggcaGctggaagaccttgtgattga	14	9	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6838466G>A	uc001qqj.2	+	5	620	c.381G>A	c.(379-381)CAG>CAA	p.Q127Q	COPS7A_uc009zex.2_Intron|COPS7A_uc001qqk.2_Silent_p.Q127Q|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Silent_p.Q127Q|COPS7A_uc001qqi.2_Silent_p.Q127Q|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Silent_p.Q127Q|COPS7A_uc001qqo.2_Silent_p.Q127Q	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN	COP9 complex subunit 7a	127	PCI.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1						ATGTGCGGCAGCTGGAAGACC	0.597													A	6838466	G	A	6838466	2	1	248	1	0	0	0	0	0	0	0	1	3738	962	34	2		2	COPS7A	12	6838466	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	31523	6838466	127013429	1057	123064											
A2ML1	144568	broad.mit.edu	37	chr12	8995814	8995814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgcacctgcgacccTtctacagcacaacccgcagc	6	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:8995814T>C	uc001quz.3	+	12	1431	c.1333T>C	c.(1333-1335)TTC>CTC	p.F445L	A2ML1_uc001qva.1_Missense_Mutation_p.F25L|A2ML1_uc010sgm.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	289						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CCTGCGACCCTTCTACAGCAC	0.498													C	8995814	T	C	8995814	3	2	248	1	0	0	0	0	1	0	0	0	5	1609	56	3	1379	3	A2ML1	12	8995814	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	2157348	8995814	124856081	1058	123065											
CLEC7A	64581	broad.mit.edu	37	chr12	10271122	10271122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagttggtcataaatgaCtgacacgtgaatccatacac	7	10	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:10271122C>T	uc001qxg.2	-	6	866	c.679G>A	c.(679-681)GTC>ATC	p.V227I	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.V181I|CLEC7A_uc001qxh.2_Missense_Mutation_p.S141N|CLEC7A_uc001qxi.2_Missense_Mutation_p.S187N|CLEC7A_uc001qxj.2_Missense_Mutation_p.V148I|CLEC7A_uc009zhg.1_RNA|CLEC7A_uc001qxk.1_RNA	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	227	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						TCATAAATGACTGACACGTGA	0.383													T	10271122	C	T	10271122	3	4	248	1	0	0	0	0	1	0	0	0	3521	565	20	4	68	4	CLEC7A	12	10271122	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1275308	10271122	123580773	1059	123066											
GABARAPL1	23710	broad.mit.edu	37	chr12	10370690	10370690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaaggctccaaaagccaGggtgcctgatctggacaaga	13	9	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:10370690G>T	uc001qxs.2	+	2	359	c.119G>T	c.(118-120)AGG>ATG	p.R40M	GABARAPL1_uc010shb.1_Missense_Mutation_p.R40M|GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	40	Interaction with GABRG2 (By similarity).					autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						CCAAAAGCCAGGGTGCCTGAT	0.473													T	10370690	G	T	10370690	3	4	248	1	0	0	0	0	1	0	0	0	6153	1000	35	5	125	5	GABARAPL1	12	10370690	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	99568	10370690	123481205	1060	123067											
CSDA	8531	broad.mit.edu	37	chr12	10862590	10862590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgggaaccgccgctgccGgtactgagggcgatactggg	18	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:10862590G>A	uc001qyt.2	-	6	940	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CSDA_uc001qyu.2_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	233					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					CGCCGCTGCCGGTACTGAGGG	0.607													A	10862590	G	A	10862590	3	1	248	1	0	0	0	0	1	0	0	0	3927	1115	39	1	437	1	CSDA	12	10862590	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	491900	10862590	122989305	1061	123068											
TAS2R19	259294	broad.mit.edu	37	chr12	11174837	11174837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaataaggttggagaaatTggcaatcttgagcaaacaaa	10	4	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:11174837T>C	uc010shj.1	-	1	334	c.334A>G	c.(334-336)AAT>GAT	p.N112D	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	112	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1						TTGGAGAAATTGGCAATCTTG	0.413													C	11174837	T	C	11174837	3	2	248	1	0	0	0	0	1	0	0	0	15567	1812	63	3	568	3	TAS2R19	12	11174837	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	312247	11174837	122677058	1062	123069											
ETV6	2120	broad.mit.edu	37	chr12	12022526	12022526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaacatgatccgccGcctctccccggctgagagag	11	16	1	3	rs111871763		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:12022526G>A	uc001qzz.2	+	5	906	c.632G>A	c.(631-633)CGC>CAC	p.R211H	ETV6_uc001raa.1_Missense_Mutation_p.R4H	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	211						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ATGATCCGCCGCCTCTCCCCG	0.627			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								A	12022526	G	A	12022526	3	1	248	1	0	0	0	0	1	0	0	0	5283	1087	38	1	650	1	ETV6	12	12022526	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	847689	12022526	121829369	1063	123070											
KIAA1467	57613	broad.mit.edu	37	chr12	13211445	13211445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggcctgcgtgatgtgcTtctctcctttgtgatgtcaa	11	9	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:13211445T>C	uc001rbi.2	+	3	517	c.494T>C	c.(493-495)CTT>CCT	p.L165P	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	165						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGTGATGTGCTTCTCTCCTTT	0.473													C	13211445	T	C	13211445	3	2	248	1	0	0	0	0	1	0	0	0	8235	1609	56	3	504	3	KIAA1467	12	13211445	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1188919	13211445	120640450	1064	123071											
ATF7IP	55729	broad.mit.edu	37	chr12	14591099	14591099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagaaaaattgtgtgcGctgcagtgtgctgtatttga	13	5	0	2	rs61754406		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:14591099G>A	uc001rbw.2	+	5	1985	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	ATF7IP_uc010shs.1_Silent_p.A608A|ATF7IP_uc001rbu.2_Silent_p.A609A|ATF7IP_uc001rbv.1_Silent_p.A608A|ATF7IP_uc001rbx.2_Silent_p.A608A|ATF7IP_uc010sht.1_Silent_p.A609A|ATF7IP_uc001rby.3_Silent_p.A609A|ATF7IP_uc001rca.2_Silent_p.A609A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	609	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			lung(3)|ovary(1)|skin(1)	5						AATTGTGTGCGCTGCAGTGTG	0.368													A	14591099	G	A	14591099	2	1	248	1	0	0	0	0	0	0	0	1	1087	1074	38	1		1	ATF7IP	12	14591099	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1379654	14591099	119260796	1065	123072											
ATF7IP	55729	broad.mit.edu	37	chr12	14613453	14613453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaccaatcttgtcactcCtccagcagttgtcagtagtc	6	13	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:14613453C>A	uc001rbw.2	+	9	2341	c.2183C>A	c.(2182-2184)CCT>CAT	p.P728H	ATF7IP_uc010shs.1_Silent_p.S697S|ATF7IP_uc001rbu.2_Missense_Mutation_p.P728H|ATF7IP_uc001rbv.1_Missense_Mutation_p.P727H|ATF7IP_uc001rbx.2_Missense_Mutation_p.P727H|ATF7IP_uc010sht.1_Silent_p.S698S|ATF7IP_uc001rby.3_Missense_Mutation_p.P728H|ATF7IP_uc001rca.2_Missense_Mutation_p.P728H	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	728	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			lung(3)|ovary(1)|skin(1)	5						CTTGTCACTCCTCCAGCAGTT	0.393													A	14613453	C	A	14613453	3	1	248	1	0	0	0	0	1	0	0	0	1087	681	24	5	2213	5	ATF7IP	12	14613453	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	22354	14613453	119238442	1066	123073											
EPS8	2059	broad.mit.edu	37	chr12	15777192	15777192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctttgactgtaaccacgTcttcacatcctctggtgtgg	8	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:15777192T>C	uc009zif.2	-	19	2288	c.2194A>G	c.(2194-2196)ACG>GCG	p.T732A	EPS8_uc001rdb.2_Missense_Mutation_p.T732A|EPS8_uc009zig.2_Missense_Mutation_p.T472A|EPS8_uc010shv.1_Missense_Mutation_p.T472A	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	732					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		TGTAACCACGTCTTCACATCC	0.448													C	15777192	T	C	15777192	3	2	248	1	0	0	0	0	1	0	0	0	5194	1667	58	3	286	3	EPS8	12	15777192	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1163739	15777192	118074703	1067	123074											
LST-3TM12	338821	broad.mit.edu	37	chr12	21172239	21172239	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctaaactacacagaccgaAgttaattggaattggttgtt	8	6	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:21172239A>C	uc010sin.1	+	2	143	c.143A>C	c.(142-144)AAG>ACG	p.K48T	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	48						membrane	transporter activity				0						CACAGACCGAAGTTAATTGGA	0.333													C	21172239	A	C	21172239	3	2	248	1	0	0	0	0	1	0	0	0	9066	72	3	5	149	5	LST-3TM12	12	21172239	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	5395047	21172239	112679656	1068	123075											
SSPN	8082	broad.mit.edu	37	chr12	26348818	26348818	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgccgtgaccgtggtgggCttcctcatggcgagcatcag	14	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:26348818C>A	uc001rhe.2	+	1	313	c.213C>A	c.(211-213)GGC>GGA	p.G71G	SSPN_uc001rhd.2_Intron|SSPN_uc009zjf.2_Silent_p.G71G|SSPN_uc001rhf.3_Silent_p.G71G	NM_005086	NP_005077	Q14714	SSPN_HUMAN	sarcospan isoform 1	71	Helical; (Potential).				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)					CCGTGGTGGGCTTCCTCATGG	0.632													A	26348818	C	A	26348818	2	1	248	1	0	0	0	0	0	0	0	1	15187	784	28	5		5	SSPN	12	26348818	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5176579	26348818	107503077	1069	123076											
ARNTL2	56938	broad.mit.edu	37	chr12	27533274	27533274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcagtgcaaccccatgGcgcgtaaactggacaaactt	8	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:27533274G>A	uc001rht.1	+	5	439	c.421G>A	c.(421-423)GCG>ACG	p.A141T	ARNTL2_uc001rhw.2_Missense_Mutation_p.A104T|ARNTL2_uc010sjp.1_Missense_Mutation_p.A104T|ARNTL2_uc001rhu.1_Missense_Mutation_p.A127T|ARNTL2_uc009zji.1_Missense_Mutation_p.A107T|ARNTL2_uc001rhv.1_Missense_Mutation_p.A93T	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	141	Helix-loop-helix motif.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACCCCATGGCGCGTAAACT	0.418													A	27533274	G	A	27533274	3	1	248	1	0	0	0	0	1	0	0	0	968	1203	42	2	439	2	ARNTL2	12	27533274	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1184456	27533274	106318621	1070	123077											
BICD1	636	broad.mit.edu	37	chr12	32458629	32458629	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatcctgtctgattcAggttgaatacgaaggcttaa	8	7	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:32458629A>G	uc001rku.2	+	4	661	c.580_splice	c.e4-2	p.V194_splice	BICD1_uc001rkv.2_Splice_Site_p.V194_splice|BICD1_uc010skd.1_Splice_Site	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1						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			large_intestine(1)|central_nervous_system(1)	2	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)			TGTCTGATTCAGGTTGAATAC	0.388													G	32458629	A	G	32458629	5	3	248	1	0	0	0	0	0	0	1	0	1428	202	7	3	592	3	BICD1	12	32458629	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	4925355	32458629	101393266	1071	123078											
LRRK2	120892	broad.mit.edu	37	chr12	40758785	40758785	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttactcctggatctttcaacTcgtcgacttatacgtgtaat	6	10	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:40758785T>A	uc001rmg.3	+	49	7444	c.7323T>A	c.(7321-7323)ACT>ACA	p.T2441T	LRRK2_uc009zjw.2_Silent_p.T1279T|LRRK2_uc001rmi.2_Silent_p.T1274T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2441					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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCTTTCAACTCGTCGACTTA	0.398											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	40758785	T	A	40758785	2	1	248	1	0	0	0	0	0	0	0	1	9033	1538	54	5		5	LRRK2	12	40758785	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	8300156	40758785	93093110	1072	123079											
ANO6	196527	broad.mit.edu	37	chr12	45814889	45814889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgtcggacatgatcccCcgcctagtgtactactggtc	9	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:45814889C>T	uc001roo.2	+	18	2588	c.2253C>T	c.(2251-2253)CCC>CCT	p.P751P	ANO6_uc010sld.1_Silent_p.P751P|ANO6_uc010sle.1_Silent_p.P751P|ANO6_uc010slf.1_Silent_p.P772P|ANO6_uc010slg.1_Silent_p.P733P	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	751	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						ACATGATCCCCCGCCTAGTGT	0.418													T	45814889	C	T	45814889	2	4	248	1	0	0	0	0	0	0	0	1	701	610	22	4		4	ANO6	12	45814889	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5056104	45814889	88037006	1073	123080											
FAM113B	91523	broad.mit.edu	37	chr12	47630017	47630017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccacaccccgttatcagCggcctgccccagtggtacat	8	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:47630017C>T	uc001rpn.2	+	4	1902	c.1171C>T	c.(1171-1173)CGG>TGG	p.R391W	FAM113B_uc001rpq.2_Missense_Mutation_p.R391W	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	391	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					CCGTTATCAGCGGCCTGCCCC	0.587													T	47630017	C	T	47630017	3	4	248	1	0	0	0	0	1	0	0	0	5402	759	27	1	1173	1	FAM113B	12	47630017	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1815128	47630017	86221878	1074	123081											
COL2A1	1280	broad.mit.edu	37	chr12	48376705	48376705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaccgggagagccacGttcacctgggaaacctcgtt	13	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:48376705G>A	uc001rqu.2	-	33	2300	c.2119C>T	c.(2119-2121)CGT>TGT	p.R707C	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.R638C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	707	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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGAGAGCCACGTTCACCTGGG	0.637													A	48376705	G	A	48376705	3	1	248	1	0	0	0	0	1	0	0	0	3687	1145	40	1	2432	1	COL2A1	12	48376705	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	746688	48376705	85475190	1075	123082											
SENP1	29843	broad.mit.edu	37	chr12	48441828	48441828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcccacccatggagtcGtaataggtaatattcttctt	6	9	2	0	rs35097848	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:48441828G>A	uc001rqx.2	-	15	2093	c.1647C>T	c.(1645-1647)TAC>TAT	p.Y549Y	SENP1_uc001rqw.2_Silent_p.Y549Y|SENP1_uc001rqy.2_Silent_p.Y350Y|SENP1_uc001rqz.2_Silent_p.Y350Y|SENP1_uc009zkx.2_Silent_p.Y549Y	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	549	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CCATGGAGTCGTAATAGGTAA	0.378													A	48441828	G	A	48441828	2	1	248	1	0	0	0	0	0	0	0	1	14046	1140	40	1		1	SENP1	12	48441828	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	65123	48441828	85410067	1076	123083											
WNT1	7471	broad.mit.edu	37	chr12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-													cgggggccccgactggcactGggggggctgcagcgacaaca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:49374347_49374347TG>T	uc001rsu.3	+	2	697	c.499_499TG>T	c.(499-501)tggfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	167					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|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 DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|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	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)		cgACTGGCACTGGGGGGGCTG	0.687													-	49374348	G	-	49374348	7	5	248	1	0	1	0	1	0	0	0	0	17378	1357	47	0	510	0	WNT1	12	49374348	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	932520	49374348	84477547	1077	123084											
DNAJC22	79962	broad.mit.edu	37	chr12	49743098	49743098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctatcttctatggccGccccatagccatactgccca	5	17	3	0	rs140061344	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:49743098G>A	uc001rua.2	+	2	844	c.443G>A	c.(442-444)CGC>CAC	p.R148H	DNAJC22_uc001rub.2_Missense_Mutation_p.R148H	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	148	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						TTCTATGGCCGCCCCATAGCC	0.562													A	49743098	G	A	49743098	3	1	248	1	0	0	0	0	1	0	0	0	4641	1087	38	1	445	1	DNAJC22	12	49743098	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	368750	49743098	84108797	1078	123085											
FMNL3	91010	broad.mit.edu	37	chr12	50039660	50039660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcactcctggcttggtggcGaacaaccataggctggcagt	13	11	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:50039660G>A	uc001ruv.1	-	26	3256	c.3022C>T	c.(3022-3024)CGC>TGC	p.R1008C	FMNL3_uc001ruw.1_Missense_Mutation_p.R957C|FMNL3_uc001rut.1_Missense_Mutation_p.R574C|FMNL3_uc001ruu.1_3'UTR	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	1008					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GCTTGGTGGCGAACAACCATA	0.647													A	50039660	G	A	50039660	3	1	248	1	0	0	0	0	1	0	0	0	5953	1058	37	1	65	1	FMNL3	12	50039660	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	296562	50039660	83812235	1079	123086											
NCKAP5L	57701	broad.mit.edu	37	chr12	50185747	50185747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgtccgaagtgctggGggtgcggctacccccgaaag	16	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:50185747G>A	uc009zlk.2	-	13	4082	c.3880C>T	c.(3880-3882)CCC>TCC	p.P1294S	NCKAP5L_uc001rvc.3_Missense_Mutation_p.P498S|NCKAP5L_uc001rvb.2_3'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1290										central_nervous_system(1)	1						GAAGTGCTGGGGGTGCGGCTA	0.701													A	50185747	G	A	50185747	3	1	248	1	0	0	0	0	1	0	0	0	10224	1232	43	4	128	4	NCKAP5L	12	50185747	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	146087	50185747	83666148	1080	123087											
RACGAP1	29127	broad.mit.edu	37	chr12	50410414	50410414	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctcagaatgacttacGgacttcatttccttcactga	7	12	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:50410414G>A	uc001rvt.2	-	4	395	c.85C>T	c.(85-87)CAA>TAA	p.Q29*	RACGAP1_uc009zlm.1_Nonsense_Mutation_p.Q29*|RACGAP1_uc001rvs.2_Nonsense_Mutation_p.Q29*|RACGAP1_uc001rvu.2_Nonsense_Mutation_p.Q29*	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	29					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			kidney(1)	1						AATGACTTACGGACTTCATTT	0.403													A	50410414	G	A	50410414	4	1	248	1	0	0	0	0	0	1	0	0	12977	1130	39	1	1877	1	RACGAP1	12	50410414	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	224667	50410414	83441481	1081	123088											
DIP2B	57609	broad.mit.edu	37	chr12	51068343	51068343	+	Frame_Shift_Del	DEL	C	C	-													gcccagcaaacattgacctgCccccctcggggatagttaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:51068342_51068342GC>G	uc001rwv.3	+	5	882	c.726_726GC>G	c.(724-726)ctgfs	p.L242fs	DIP2B_uc001rwu.3_Frame_Shift_Del_p.L242fs|DIP2B_uc009zls.2_Frame_Shift_Del_p.L124fs	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	242						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						ACATTGACCTGCCCCCCTCGG	0.473													-	51068343	C	-	51068343	7	5	248	1	0	1	0	1	0	0	0	0	4528	739	26	0	749	0	DIP2B	12	51068343	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	657929	51068343	82783552	1082	123089											
KRT77	374454	broad.mit.edu	37	chr12	53091567	53091567	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgcctccgcaggtcaccGatgtagttctccaagagggg	12	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:53091567G>A	uc001saw.2	-	2	686	c.657C>T	c.(655-657)ATC>ATT	p.I219I	KRT77_uc009zmi.2_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	219	Linker 1.|Rod.					keratin filament	structural molecule activity			ovary(1)	1						GCAGGTCACCGATGTAGTTCT	0.562													A	53091567	G	A	53091567	2	1	248	1	0	0	0	0	0	0	0	1	8490	1048	37	1		1	KRT77	12	53091567	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2023224	53091567	80760328	1083	123090											
MAP3K12	7786	broad.mit.edu	37	chr12	53874991	53874991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggagggaagctgggggcCgcaaggcatcaacgctgttg	19	8	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:53874991C>T	uc001sdm.1	-	15	2653	c.2555G>A	c.(2554-2556)CGG>CAG	p.R852Q	MAP3K12_uc001sdn.1_Missense_Mutation_p.R885Q	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	852					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			lung(2)|ovary(1)|breast(1)|skin(1)	5						AGCTGGGGGCCGCAAGGCATC	0.408													T	53874991	C	T	53874991	3	4	248	1	0	0	0	0	1	0	0	0	9246	652	23	1	28	1	MAP3K12	12	53874991	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	783424	53874991	79976904	1084	123091											
NFE2	4778	broad.mit.edu	37	chr12	54686187	54686187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccatcttggtcccccGgggcacaaggaagatggtcc	13	14	1	1	rs150756699	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:54686187G>A	uc009znk.2	-	2	1603	c.1093C>T	c.(1093-1095)CGG>TGG	p.R365W	NFE2_uc001sfq.2_Missense_Mutation_p.R365W|NFE2_uc001sfr.3_Missense_Mutation_p.R365W|NFE2_uc009znl.2_Missense_Mutation_p.R365W	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	365					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				0						TTGGTCCCCCGGGGCACAAGG	0.562													A	54686187	G	A	54686187	3	1	248	1	0	0	0	0	1	0	0	0	10366	1115	39	1	32	1	NFE2	12	54686187	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	811196	54686187	79165708	1085	123092											
NFE2	4778	broad.mit.edu	37	chr12	54686507	54686507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagctggctctctgtcagcGggtaccttgccaatagctca	10	13	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:54686507G>A	uc009znk.2	-	2	1283	c.773C>T	c.(772-774)CCG>CTG	p.P258L	NFE2_uc001sfq.2_Missense_Mutation_p.P258L|NFE2_uc001sfr.3_Missense_Mutation_p.P258L|NFE2_uc009znl.2_Missense_Mutation_p.P258L	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	258					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				0						CTCTGTCAGCGGGTACCTTGC	0.542													A	54686507	G	A	54686507	3	1	248	1	0	0	0	0	1	0	0	0	10366	1116	39	1	352	1	NFE2	12	54686507	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	320	54686507	79165388	1086	123093											
OR6C74	254783	broad.mit.edu	37	chr12	55641724	55641724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgattctctcctacacaaAtattatcaggactattctga	5	9	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:55641724A>G	uc010spg.1	+	1	653	c.653A>G	c.(652-654)AAT>AGT	p.N218S		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	218	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TCCTACACAAATATTATCAGG	0.388													G	55641724	A	G	55641724	3	3	248	1	0	0	0	0	1	0	0	0	11198	101	4	3	655	3	OR6C74	12	55641724	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	955217	55641724	78210171	1087	123094											
SMARCC2	6601	broad.mit.edu	37	chr12	56579991	56579991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagaatgtggcacaaggAgcctcccgctttgaaatcta	10	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56579991A>G	uc001skb.2	-	3	371	c.265T>C	c.(265-267)TCC>CCC	p.S89P	SMARCC2_uc001skd.2_Missense_Mutation_p.S89P|SMARCC2_uc001ska.2_Missense_Mutation_p.S89P|SMARCC2_uc001skc.2_Missense_Mutation_p.S89P|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	89					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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGCACAAGGAGCCTCCCGCT	0.383													G	56579991	A	G	56579991	3	3	248	1	0	0	0	0	1	0	0	0	14776	304	11	3	3580	3	SMARCC2	12	56579991	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	938267	56579991	77271904	1088	123095											
SLC39A5	283375	broad.mit.edu	37	chr12	56630975	56630975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagggctgtcctttcggCggctgctgctgctgagcctc	14	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56630975C>T	uc010sqj.1	+	12	1587	c.1330C>T	c.(1330-1332)CGG>TGG	p.R444W	SLC39A5_uc010sqk.1_Missense_Mutation_p.R444W	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	444	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						GTCCTTTCGGCGGCTGCTGCT	0.652													T	56630975	C	T	56630975	3	4	248	1	0	0	0	0	1	0	0	0	14621	759	27	1	1364	1	SLC39A5	12	56630975	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	50984	56630975	77220920	1089	123096											
ANKRD52	283373	broad.mit.edu	37	chr12	56638205	56638205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaaggtctgccttccctcGatacagcagaaattctacga	8	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56638205G>A	uc001skm.3	-	25	2827	c.2737C>T	c.(2737-2739)CGA>TGA	p.R913*		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	913	ANK 26.						protein binding			ovary(2)	2						GCCTTCCCTCGATACAGCAGA	0.517													A	56638205	G	A	56638205	4	1	248	1	0	0	0	0	0	1	0	0	678	1066	37	1	509	1	ANKRD52	12	56638205	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7230	56638205	77213690	1090	123097											
PAN2	9924	broad.mit.edu	37	chr12	56716461	56716461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggctgccccctgtgcGtgagtccaggatgtgtacca	12	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56716461G>A	uc001skx.2	-	18	2960	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	PAN2_uc001skw.2_Missense_Mutation_p.R11C|PAN2_uc001skz.2_Missense_Mutation_p.R862C|PAN2_uc001sky.2_Missense_Mutation_p.R859C	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	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			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CCCCCTGTGCGTGAGTCCAGG	0.592													A	56716461	G	A	56716461	3	1	248	1	0	0	0	0	1	0	0	0	11414	1145	40	1	1057	1	PAN2	12	56716461	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	78256	56716461	77135434	1091	123098											
MIP	4284	broad.mit.edu	37	chr12	56847416	56847416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggagaagccaacggccaGggccacggagcccagttggc	16	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56847416G>T	uc001slh.2	-	2	516	c.484C>A	c.(484-486)CTG>ATG	p.L162M		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	162	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						CCAACGGCCAGGGCCACGGAG	0.592													T	56847416	G	T	56847416	3	4	248	1	0	0	0	0	1	0	0	0	9591	991	35	5	319	5	MIP	12	56847416	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	130955	56847416	77004479	1092	123099											
INHBC	3626	broad.mit.edu	37	chr12	57843559	57843559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatccagcctgagggctaCgccatgaacttctgcatagg	10	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57843559C>T	uc001snv.1	+	2	940	c.813C>T	c.(811-813)TAC>TAT	p.Y271Y		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	271					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						CTGAGGGCTACGCCATGAACT	0.542													T	57843559	C	T	57843559	2	4	248	1	0	0	0	0	0	0	0	1	7743	547	19	1		1	INHBC	12	57843559	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	996143	57843559	76008336	1093	123100											
INHBC	3626	broad.mit.edu	37	chr12	57843581	57843581	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaacttctgcatagggCagtgcccactacacatagca	8	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57843581C>T	uc001snv.1	+	2	962	c.835C>T	c.(835-837)CAG>TAG	p.Q279*		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	279					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						CTGCATAGGGCAGTGCCCACT	0.542													T	57843581	C	T	57843581	4	4	248	1	0	0	0	0	0	1	0	0	7743	711	25	2	841	2	INHBC	12	57843581	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	22	57843581	76008314	1094	123101											
ARHGAP9	64333	broad.mit.edu	37	chr12	57871381	57871381	+	Frame_Shift_Del	DEL	G	G	-													gcagggggcatgcagggcctGggggtggggaccgaggacag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57871381delG	uc001sod.2	-	7	1023	c.830delC	c.(829-831)CCAfs	p.P277fs	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Frame_Shift_Del_p.P22fs|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Frame_Shift_Del_p.P206fs|ARHGAP9_uc001soc.2_Frame_Shift_Del_p.P206fs|ARHGAP9_uc001soe.1_Frame_Shift_Del_p.P285fs|ARHGAP9_uc010sro.1_Frame_Shift_Del_p.P206fs	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	206					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCAGGGCCTGGGGGTGGGGA	0.637													-	57871381	G	-	57871381	7	5	248	1	0	1	0	1	0	0	0	0	889	1348	47	0	1638	0	ARHGAP9	12	57871381	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	27800	57871381	75980514	1095	123102											
DDIT3	1649	broad.mit.edu	37	chr12	57910662	57910662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctacttccctggtcaggCgctcgatttcctgcttgagc	9	15	2	1	rs139206730		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57910662C>T	uc001soi.2	-	4	620	c.440G>A	c.(439-441)CGC>CAC	p.R147H	MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.R170H|DDIT3_uc009zpt.2_Missense_Mutation_p.R170H	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	147	Leucine-zipper.				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		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						CCTGGTCAGGCGCTCGATTTC	0.537			T	FUS	liposarcoma								T	57910662	C	T	57910662	3	4	248	1	0	0	0	0	1	0	0	0	4330	768	27	1	73	1	DDIT3	12	57910662	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	39281	57910662	75941233	1096	123103											
MBD6	114785	broad.mit.edu	37	chr12	57919188	57919188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggcccccctctgcccGccctccctgtcgagttcctc	8	23	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57919188G>A	uc001soj.1	+	6	661	c.437G>A	c.(436-438)CGC>CAC	p.R146H	MBD6_uc001sok.1_Missense_Mutation_p.R13H|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	146	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCCTCTGCCCGCCCTCCCTGT	0.592													A	57919188	G	A	57919188	3	1	248	1	0	0	0	0	1	0	0	0	9348	1087	38	1	451	1	MBD6	12	57919188	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8526	57919188	75932707	1097	123104											
AGAP2	116986	broad.mit.edu	37	chr12	58125741	58125741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtcgctagtgtggccccCgttactagcctgggcacata	12	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:58125741C>T	uc001spq.2	-	8	1804	c.1804G>A	c.(1804-1806)GGG>AGG	p.G602R	AGAP2_uc001spp.2_Missense_Mutation_p.G602R|AGAP2_uc001spr.2_Missense_Mutation_p.G266R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	602					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			central_nervous_system(3)|breast(2)	5						GTGTGGCCCCCGTTACTAGCC	0.562													T	58125741	C	T	58125741	3	4	248	1	0	0	0	0	1	0	0	0	368	652	23	1	1822	1	AGAP2	12	58125741	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	206553	58125741	75726154	1098	123105											
AGAP2	116986	broad.mit.edu	37	chr12	58126199	58126199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcacctggccagctaccGgagtggatgcagctgagtgg	14	11	1	1	rs138992134		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:58126199G>A	uc001spq.2	-	7	1781	c.1781C>T	c.(1780-1782)CCG>CTG	p.P594L	AGAP2_uc001spp.2_Missense_Mutation_p.P594L|AGAP2_uc001spr.2_Missense_Mutation_p.P258L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	594					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			central_nervous_system(3)|breast(2)	5						GCCAGCTACCGGAGTGGATGC	0.612													A	58126199	G	A	58126199	3	1	248	1	0	0	0	0	1	0	0	0	368	1116	39	1	1849	1	AGAP2	12	58126199	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	458	58126199	75725696	1099	123106											
LRIG3	121227	broad.mit.edu	37	chr12	59279645	59279645	+	Frame_Shift_Del	DEL	T	T	-													gcatccaaaccagtgaaggcTtttttagtaatagaacggat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:59279644_59279644CT>C	uc001sqr.3	-	9	1459	c.1213_1213AG>G	c.(1213-1215)gccfs	p.A405fs	LRIG3_uc009zqh.3_Frame_Shift_Del_p.A345fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	405						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)			CCAGTGAAGGCTTTTTTAGTA	0.368			T	ROS1	NSCLC								-	59279645	T	-	59279645	7	5	248	1	0	1	0	1	0	0	0	0	8946	1606	56	0	2187	0	LRIG3	12	59279645	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1153446	59279645	74572250	1100	123107											
SRGAP1	57522	broad.mit.edu	37	chr12	64491076	64491076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatattaactcagttgctggCgttctgaagctctatttccg	9	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:64491076C>T	uc010ssp.1	+	15	1790	c.1734C>T	c.(1732-1734)GGC>GGT	p.G578G	SRGAP1_uc001srv.2_Silent_p.G515G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	578	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGTTGCTGGCGTTCTGAAGC	0.358													T	64491076	C	T	64491076	2	4	248	1	0	0	0	0	0	0	0	1	15144	755	27	1		1	SRGAP1	12	64491076	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5211431	64491076	69360819	1101	123108											
RAB3IP	117177	broad.mit.edu	37	chr12	70195435	70195435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacaatactctaagcaTtgaaccagtgggattacaac	8	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:70195435T>C	uc001svp.2	+	8	1559	c.1112T>C	c.(1111-1113)ATT>ACT	p.I371T	RAB3IP_uc001svm.2_Missense_Mutation_p.I355T|RAB3IP_uc001svn.2_Missense_Mutation_p.I355T|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.I371T|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.I149T	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	371					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			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTCTAAGCATTGAACCAGTG	0.393													C	70195435	T	C	70195435	3	2	248	1	0	0	0	0	1	0	0	0	12938	1493	52	3	1142	3	RAB3IP	12	70195435	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	5704359	70195435	63656460	1102	123109											
PTPRR	5801	broad.mit.edu	37	chr12	71050530	71050532	+	In_Frame_Del	DEL	CTT	CTT	-													gcttagtgcatccacaactcCttcttctttcagctgttgac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:71050529_71050531CCTT>C	uc001swi.2	-	12	2247_2249	c.1833_1835AAGG>G	c.(1831-1836)gaagga>gaGa	p.G612del	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_In_Frame_Del_p.G367del|PTPRR_uc009zrs.3_In_Frame_Del_p.G406del|PTPRR_uc010stq.2_In_Frame_Del_p.G500del	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	612	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|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)		ATCCACAACTCCTTCTTCTTTCA	0.429													-	71050532	CTT	-	71050530	7	5	248	1	0	1	0	1	0	0	0	0	12810	690	24	0	147	0	PTPRR	12	71050530	In_Frame_Del	DEL	CTT	TCGA-FP-A4BE-01A-12D-A24D-08	855095	71050530	62801365	1103	123110											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804255	75804256	+	Frame_Shift_Del	DEL	AA	AA	-													cggactgctagagcatggggAaaaaaatgtttgtttacgca					rs144818804	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:75804254_75804255GAA>G	uc001sxr.1	+	1	283_284	c.275_276GAA>G	c.(274-276)ggafs	p.G92fs	GLIPR1L2_uc001sxp.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	92						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGCATGGGGAAAAAAATGTT	0.317													-	75804256	AA	-	75804255	7	5	248	1	0	1	0	1	0	0	0	0	6443	233	9	0	282	0	GLIPR1L2	12	75804255	Frame_Shift_Del	DEL	AA	TCGA-FP-A4BE-01A-12D-A24D-08	4753725	75804255	58047640	1104	123111											
NAV3	89795	broad.mit.edu	37	chr12	78513274	78513274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtaaaattccaaaatctGctgccattggcgggaagtca	11	8	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:78513274G>A	uc001syp.2	+	15	3471	c.3298G>A	c.(3298-3300)GCT>ACT	p.A1100T	NAV3_uc001syo.2_Missense_Mutation_p.A1100T|NAV3_uc010sub.1_Missense_Mutation_p.A600T|NAV3_uc009zsf.2_Missense_Mutation_p.A108T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1100	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCCAAAATCTGCTGCCATTGG	0.468										HNSCC(70;0.22)			A	78513274	G	A	78513274	3	1	248	1	0	0	0	0	1	0	0	0	10185	1319	46	2	3356	2	NAV3	12	78513274	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2709019	78513274	55338621	1105	123112											
SLC6A15	55117	broad.mit.edu	37	chr12	85255760	85255760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaccagtccccatgttGgatagctcagaaattcttca	6	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:85255760G>A	uc001szv.2	-	12	2337	c.1844C>T	c.(1843-1845)CCA>CTA	p.P615L	SLC6A15_uc010sul.1_Missense_Mutation_p.P508L|SLC6A15_uc001szw.1_Intron	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	615					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						TCCCCATGTTGGATAGCTCAG	0.353													A	85255760	G	A	85255760	3	1	248	1	0	0	0	0	1	0	0	0	14678	1348	47	4	352	4	SLC6A15	12	85255760	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6742486	85255760	48596135	1106	123113											
ELK3	2004	broad.mit.edu	37	chr12	96641029	96641030	+	Frame_Shift_Ins	INS	-	-	C													aggagccgcccgaagacagcINSccccccgtggaagaagtcag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:96641028_96641029G>GC	uc001teo.1	+	2	797_798	c.518_519G>GC	c.(517-519)agcfs	p.S173fs		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	173					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	p.V176fs*14(1)		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)					CCCGAAGACAGCCCCCCCGTGG	0.579													C	96641030	-	C	96641029	7	5	248	1	0	1	1	0	0	0	0	0	5060	738	26	0	525	0	ELK3	12	96641029	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	11385269	96641029	37210866	1107	123114											
NEDD1	121441	broad.mit.edu	37	chr12	97334215	97334216	+	Frame_Shift_Del	DEL	TT	TT	-													cgaagcataaacacagacacTttatctaaggaaacagacag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:97334215_97334216delTT	uc001teu.3	+	10	1485_1486	c.1146_1147delTT	c.(1144-1149)ACTTTAfs	p.T382fs	NEDD1_uc001tev.3_Frame_Shift_Del_p.T382fs|NEDD1_uc010svc.1_Frame_Shift_Del_p.T293fs|NEDD1_uc001tew.2_Frame_Shift_Del_p.T389fs|NEDD1_uc001tex.2_Frame_Shift_Del_p.T293fs	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	382_383					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						ACACAGACACTTTATCTAAGGA	0.327													-	97334216	TT	-	97334215	7	5	248	1	0	1	0	1	0	0	0	0	10309	1596	56	0	1201	0	NEDD1	12	97334215	Frame_Shift_Del	DEL	TT	TCGA-FP-A4BE-01A-12D-A24D-08	693186	97334215	36517680	1108	123115											
CKAP4	10970	broad.mit.edu	37	chr12	106633724	106633724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacttggctgaggtctgtAtctccttcacagcttccttt	9	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:106633724A>G	uc001tlk.2	-	2	971	c.887T>C	c.(886-888)ATA>ACA	p.I296T		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	296	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						TGAGGTCTGTATCTCCTTCAC	0.517													G	106633724	A	G	106633724	3	3	248	1	0	0	0	0	1	0	0	0	3444	449	16	3	925	3	CKAP4	12	106633724	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	9299509	106633724	27218171	1109	123116											
CMKLR1	1240	broad.mit.edu	37	chr12	108686697	108686697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatcagggtattcatcacCgtaactgatggaagtgttgt	10	6	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:108686697C>T	uc009zuw.2	-	3	234	c.43G>A	c.(43-45)GGT>AGT	p.G15S	CMKLR1_uc001tmw.2_Missense_Mutation_p.G15S|CMKLR1_uc001tmv.2_Missense_Mutation_p.G13S|CMKLR1_uc009zuv.2_Missense_Mutation_p.G15S	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	15	Extracellular (Potential).				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			lung(3)|ovary(1)|pancreas(1)	5						TATTCATCACCGTAACTGATG	0.468													T	108686697	C	T	108686697	3	4	248	1	0	0	0	0	1	0	0	0	3579	652	23	1	1082	1	CMKLR1	12	108686697	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2052973	108686697	25165198	1110	123117											
USP30	84749	broad.mit.edu	37	chr12	109523509	109523509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggctgatggcagttgtcGtccaccatggagacatgcac	12	12	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:109523509G>A	uc010sxi.1	+	13	1431	c.1327G>A	c.(1327-1329)GTC>ATC	p.V443I	USP30_uc001tnu.3_Missense_Mutation_p.V412I|USP30_uc001tnw.3_Missense_Mutation_p.V160I	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	443	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						GGCAGTTGTCGTCCACCATGG	0.483													A	109523509	G	A	109523509	3	1	248	1	0	0	0	0	1	0	0	0	17058	1145	40	1	1377	1	USP30	12	109523509	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	836812	109523509	24328386	1111	123118											
KCTD10	83892	broad.mit.edu	37	chr12	109889523	109889523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgccgccccgcctgtggcCtccaggagcgcattgtcagg	13	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:109889523C>A	uc001toi.1	-	7	907	c.819G>T	c.(817-819)GAG>GAT	p.E273D	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E247D|KCTD10_uc001toj.1_Missense_Mutation_p.E282D|KCTD10_uc001tok.1_Missense_Mutation_p.E92D	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	273					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CGCCTGTGGCCTCCAGGAGCG	0.652													A	109889523	C	A	109889523	3	1	248	1	0	0	0	0	1	0	0	0	8097	680	24	5	126	5	KCTD10	12	109889523	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	366014	109889523	23962372	1112	123119											
C12orf24	29902	broad.mit.edu	37	chr12	110924487	110924487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgaaatgctcatacaGcattccctttggcggccagt	9	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:110924487G>A	uc001tqu.3	+	5	1034	c.585G>A	c.(583-585)CAG>CAA	p.Q195Q	C12orf24_uc010sxz.1_Silent_p.Q100Q|C12orf24_uc009zvo.2_Silent_p.Q195Q|C12orf24_uc001tqt.2_RNA|C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_5'Flank	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	hypothetical protein LOC29902	195											0						TGCTCATACAGCATTCCCTTT	0.428													A	110924487	G	A	110924487	2	1	248	1	0	0	0	0	0	0	0	1	1678	962	34	2		2	C12orf24	12	110924487	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1034964	110924487	22927408	1113	123120											
ATXN2	6311	broad.mit.edu	37	chr12	111990087	111990087	+	Frame_Shift_Del	DEL	T	T	-													aggaaatcaaaacccacctcTttttgcataactggagtcca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:111990086_111990086CT>C	uc001tsj.3	-	4	1211	c.1049_1049AG>G	c.(1048-1050)agafs	p.R350fs	ATXN2_uc001tsh.3_Frame_Shift_Del_p.R85fs|ATXN2_uc001tsi.3_Frame_Shift_Del_p.R61fs|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Frame_Shift_Del_p.R85fs	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	350					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus 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						AAACCCACCTCTTTTTGCATA	0.328													-	111990087	T	-	111990087	7	5	248	1	0	1	0	1	0	0	0	0	1211	1617	56	0	2977	0	ATXN2	12	111990087	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1065600	111990087	21861808	1114	123121											
RPL6	6128	broad.mit.edu	37	chr12	112846122	112846124	+	In_Frame_Del	DEL	CTC	CTC	-													gtaacagttgcgagaaccttCtccttctttttcttttcaac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:112846121_112846123TCTC>T	uc001ttu.3	-	2	486_488	c.257_259GAGA>A	c.(256-261)gagaag>gAag	p.K87del	RPL6_uc001ttv.3_In_Frame_Del_p.K87del|RPL6_uc009zwd.1_3'UTR	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	87					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						GCGAGAACCTTCTCCTTCTTTTT	0.433													-	112846124	CTC	-	112846122	7	5	248	1	0	1	0	1	0	0	0	0	13598	912	32	0	628	0	RPL6	12	112846122	In_Frame_Del	DEL	CTC	TCGA-FP-A4BE-01A-12D-A24D-08	856035	112846122	21005773	1115	123122											
OAS2	4939	broad.mit.edu	37	chr12	113433246	113433246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctggaaaactaaaggaTttgatcctcttgataaagca	8	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:113433246T>C	uc001tuj.2	+	3	734	c.594T>C	c.(592-594)GAT>GAC	p.D198D	OAS2_uc001tui.1_Silent_p.D198D	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	198	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						AACTAAAGGATTTGATCCTCT	0.353													C	113433246	T	C	113433246	2	2	248	1	0	0	0	0	0	0	0	1	10800	1490	52	3		3	OAS2	12	113433246	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	587124	113433246	20418649	1116	123123											
DDX54	79039	broad.mit.edu	37	chr12	113599728	113599728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggagctgctgatgtagCggccgctctctgtcttaatc	12	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:113599728C>T	uc001tup.2	-	18	2298	c.2270G>A	c.(2269-2271)CGC>CAC	p.R757H	DDX54_uc001tuq.3_Missense_Mutation_p.R757H	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	757					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			skin(2)|central_nervous_system(1)	3						GCTGATGTAGCGGCCGCTCTC	0.582													T	113599728	C	T	113599728	3	4	248	1	0	0	0	0	1	0	0	0	4372	768	27	1	390	1	DDX54	12	113599728	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	166482	113599728	20252167	1117	123124											
SLC24A6	80024	broad.mit.edu	37	chr12	113745599	113745599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcaccacctctgtggcGgccgcgttgatccacagggc	12	14	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:113745599G>A	uc001tvc.2	-	13	1518	c.1308C>T	c.(1306-1308)GCC>GCT	p.A436A	SLC24A6_uc001tuz.2_Silent_p.A141A|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.A174A	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	436	Helical; Name=9; (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						CCTCTGTGGCGGCCGCGTTGA	0.622													A	113745599	G	A	113745599	2	1	248	1	0	0	0	0	0	0	0	1	14470	1103	39	1		1	SLC24A6	12	113745599	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	145871	113745599	20106296	1118	123125											
TBX5	6910	broad.mit.edu	37	chr12	114793454	114793454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcagggggctgaagggtGccaggggactgcaggccagt	18	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:114793454G>A	uc001tvo.2	-	9	1935	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G	TBX5_uc001tvp.2_Silent_p.G480G|TBX5_uc001tvq.2_Silent_p.G430G	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	480					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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCTGAAGGGTGCCAGGGGACT	0.622													A	114793454	G	A	114793454	2	1	248	1	0	0	0	0	0	0	0	1	15658	1306	46	2		2	TBX5	12	114793454	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1047855	114793454	19058441	1119	123126											
TBX3	6926	broad.mit.edu	37	chr12	115112565	115112565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtggagatcttggccGcgtcgcaggcctcggggcca	18	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:115112565G>A	uc001tvt.1	-	7	2139	c.1175C>T	c.(1174-1176)GCG>GTG	p.A392V	TBX3_uc001tvu.1_Missense_Mutation_p.A372V	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	392					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			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GATCTTGGCCGCGTCGCAGGC	0.652													A	115112565	G	A	115112565	3	1	248	1	0	0	0	0	1	0	0	0	15656	1087	38	1	1064	1	TBX3	12	115112565	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	319111	115112565	18739330	1120	123127											
VSIG10	54621	broad.mit.edu	37	chr12	118520178	118520178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggctgcgtagagggTgccgttggggagtgtgccgg	20	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:118520178T>C	uc001tws.2	-	3	752	c.418A>G	c.(418-420)ACC>GCC	p.T140A		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	140	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane					0						GCGTAGAGGGTGCCGTTGGGG	0.597													C	118520178	T	C	118520178	3	2	248	1	0	0	0	0	1	0	0	0	17220	1696	59	3	1232	3	VSIG10	12	118520178	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3407613	118520178	15331717	1121	123128											
GCN1L1	10985	broad.mit.edu	37	chr12	120592843	120592843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagcactgggggcggcCgctgcaacagacaagttggt	14	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:120592843C>T	uc001txo.2	-	31	3645	c.3632G>A	c.(3631-3633)CGG>CAG	p.R1211Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1211					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGCGGCCGCTGCAACAG	0.532													T	120592843	C	T	120592843	3	4	248	1	0	0	0	0	1	0	0	0	6299	666	23	1	4495	1	GCN1L1	12	120592843	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2072665	120592843	13259052	1122	123129											
C12orf43	64897	broad.mit.edu	37	chr12	121448671	121448671	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttggctacgtgggctcGgaattcaggggtggtctgaa	15	8	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:121448671G>A	uc001tzh.1	-	3	270	c.247C>T	c.(247-249)CGA>TGA	p.R83*	C12orf43_uc009zxa.1_Nonsense_Mutation_p.R114*|C12orf43_uc010szo.1_Nonsense_Mutation_p.R41*|C12orf43_uc010szp.1_Nonsense_Mutation_p.R83*|C12orf43_uc001tzi.1_Nonsense_Mutation_p.R83*	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	83											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGTGGGCTCGGAATTCAGGG	0.438													A	121448671	G	A	121448671	4	1	248	1	0	0	0	0	0	1	0	0	1689	1124	39	1	557	1	C12orf43	12	121448671	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	855828	121448671	12403224	1123	123130											
MORN3	283385	broad.mit.edu	37	chr12	122107285	122107285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgcccacatagtagtcGccattcacagcgtatacctg	7	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:122107285G>A	uc001uax.2	-	1	276	c.105C>T	c.(103-105)GGC>GGT	p.G35G	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	35											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CATAGTAGTCGCCATTCACAG	0.622											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	122107285	G	A	122107285	2	1	248	1	0	0	0	0	0	0	0	1	9709	1074	38	1		1	MORN3	12	122107285	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	658614	122107285	11744610	1124	123131											
LRRC43	254050	broad.mit.edu	37	chr12	122669300	122669300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttctactcctacttcCggtccctgcgggtaatagac	7	15	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:122669300C>T	uc009zxm.2	+	2	410	c.385C>T	c.(385-387)CGG>TGG	p.R129W	LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	129											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCTACTTCCGGTCCCTGCG	0.562													T	122669300	C	T	122669300	3	4	248	1	0	0	0	0	1	0	0	0	9001	643	23	1	391	1	LRRC43	12	122669300	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	562015	122669300	11182595	1125	123132											
CLIP1	6249	broad.mit.edu	37	chr12	122839720	122839720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatctcccccacgtggctcGtggccttggccacctccgcc	9	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:122839720G>A	uc001ucg.1	-	5	1251	c.1145C>T	c.(1144-1146)ACG>ATG	p.T382M	CLIP1_uc001uch.1_Missense_Mutation_p.T382M|CLIP1_uc001uci.1_Missense_Mutation_p.T382M|CLIP1_uc001ucj.1_Missense_Mutation_p.T83M|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.1_Intron	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	382	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	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)		CACGTGGCTCGTGGCCTTGGC	0.617													A	122839720	G	A	122839720	3	1	248	1	0	0	0	0	1	0	0	0	3532	1145	40	1	3218	1	CLIP1	12	122839720	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	170420	122839720	11012175	1126	123133											
GPR109A	338442	broad.mit.edu	37	chr12	123187048	123187048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcacaattctgcgtgccCgaagtgtgcaggagccagaa	11	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:123187048C>T	uc001ucx.1	-	1	857	c.783G>A	c.(781-783)TCG>TCA	p.S261S	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	261	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	TCTGCGTGCCCGAAGTGTGCA	0.552													T	123187048	C	T	123187048	2	4	248	1	0	0	0	0	0	0	0	1	6625	639	23	1		1	GPR109A	12	123187048	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	347328	123187048	10664847	1127	123134											
ARL6IP4	51329	broad.mit.edu	37	chr12	123466320	123466322	+	In_Frame_Del	DEL	GAA	GAA	-													aagaagaagaggaagaagctGaagaagaagggcaaggagaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:123466320_123466322delGAA	uc001ued.2	+	3	787_789	c.732_734delGAA	c.(730-735)CTGAAG>CTG	p.K247del	ARL6IP4_uc001uec.2_In_Frame_Del_p.K239del|ARL6IP4_uc001uee.2_In_Frame_Del_p.K228del|ARL6IP4_uc001uef.2_In_Frame_Del_p.K228del|ARL6IP4_uc001ueg.2_RNA|ARL6IP4_uc009zxt.2_In_Frame_Del_p.K113del|ARL6IP4_uc001ueh.2_In_Frame_Del_p.K105del|ARL6IP4_uc001uei.2_In_Frame_Del_p.K116del	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	247	Lys-rich.				RNA splicing	nucleus					0	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)		ggaagaagctgaagaagaagggc	0.31													-	123466322	GAA	-	123466320	7	5	248	1	0	1	0	1	0	0	0	0	943	1277	45	0	742	0	ARL6IP4	12	123466320	In_Frame_Del	DEL	GAA	TCGA-FP-A4BE-01A-12D-A24D-08	279272	123466320	10385575	1128	123135											
DNAH10	196385	broad.mit.edu	37	chr12	124303577	124303577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgattcagtgaatgtggaGcatgctcttggggacataaa	12	5	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:124303577G>A	uc001uft.3	+	21	3532	c.3507G>A	c.(3505-3507)GAG>GAA	p.E1169E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1169	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TGAATGTGGAGCATGCTCTTG	0.363													A	124303577	G	A	124303577	2	1	248	1	0	0	0	0	0	0	0	1	4598	962	34	2		2	DNAH10	12	124303577	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	837257	124303577	9548318	1129	123136											
CCDC92	80212	broad.mit.edu	37	chr12	124421949	124421949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgtagacctcttcaaAttccgggtgcaagggggctg	13	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:124421949A>G	uc001ufw.1	-	5	799	c.652T>C	c.(652-654)TTT>CTT	p.F218L	CCDC92_uc001ufv.1_Missense_Mutation_p.F201L|CCDC92_uc001ufx.1_Missense_Mutation_p.F218L|CCDC92_uc001ufy.1_Missense_Mutation_p.F201L	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	218											0	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)		ACCTCTTCAAATTCCGGGTGC	0.597													G	124421949	A	G	124421949	3	3	248	1	0	0	0	0	1	0	0	0	2871	101	4	3	347	3	CCDC92	12	124421949	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	118372	124421949	9429946	1130	123137											
NCOR2	9612	broad.mit.edu	37	chr12	124915184	124915184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcgctcctgcagctcGcgctgcttgcggatctcagg	13	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:124915184G>A	uc010tba.1	-	9	1149	c.1032C>T	c.(1030-1032)CGC>CGT	p.R344R	NCOR2_uc010tay.1_Silent_p.R344R|NCOR2_uc010taz.1_Silent_p.R344R|NCOR2_uc010tbb.1_Silent_p.R344R|NCOR2_uc010tbc.1_Silent_p.R344R|NCOR2_uc001ugj.1_Silent_p.R344R|NCOR2_uc001ugk.1_Silent_p.R344R	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	344					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			skin(3)|ovary(1)	4	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)		CCTGCAGCTCGCGCTGCTTGC	0.667													A	124915184	G	A	124915184	2	1	248	1	0	0	0	0	0	0	0	1	10236	1074	38	1		1	NCOR2	12	124915184	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	493235	124915184	8936711	1131	123138											
TMEM132D	121256	broad.mit.edu	37	chr12	130184622	130184623	+	Frame_Shift_Ins	INS	-	-	C													gacgcagtcccctctctcacINScccctgggtgcacggtgtag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:130184621_130184622A>AC	uc009zyl.1	-	1	1029_1030	c.701_702T>GT	c.(700-702)ggtfs	p.G234fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	234						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)		CCCCTCTCTCACCCCCTGGGTG	0.663													C	130184623	-	C	130184622	7	5	248	1	0	1	1	0	0	0	0	0	16044	507	18	0	2630	0	TMEM132D	12	130184622	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	5269438	130184622	3667273	1132	123139											
TMEM132D	121256	broad.mit.edu	37	chr12	130184715	130184715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccaccgtgggggggctgAaccagctggacaggagctcc	15	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:130184715A>G	uc009zyl.1	-	2	936	c.608T>C	c.(607-609)TTC>TCC	p.F203S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	203	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		GGGGGGGCTGAACCAGCTGGA	0.692													G	130184715	A	G	130184715	3	3	248	1	0	0	0	0	1	0	0	0	16044	246	9	3	2723	3	TMEM132D	12	130184715	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	93	130184715	3667180	1133	123140											
EP400	57634	broad.mit.edu	37	chr12	132479502	132479502	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaatttagccaaggaagGtaggctgttgctaccttatt	9	7	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132479502G>A	uc001ujn.2	+	11	2862	c.2827_splice	c.e11+1	p.A943_splice	EP400_uc001ujl.2_Splice_Site_p.A942_splice|EP400_uc001ujm.2_Splice_Site_p.A943_splice|EP400_uc001ujk.2_Missense_Mutation_p.G979D	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400						histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		GCCAAGGAAGGTAGGCTGTTG	0.363													A	132479502	G	A	132479502	5	1	248	1	0	0	0	0	0	0	1	0	5149	1275	44	4	2867	4	EP400	12	132479502	Splice_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2294787	132479502	1372393	1134	123141											
EP400	57634	broad.mit.edu	37	chr12	132497672	132497672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcattgatgagatgcagcGcgtgaagggcatgaccgaga	16	7	1	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132497672G>A	uc001ujn.2	+	16	3595	c.3560G>A	c.(3559-3561)CGC>CAC	p.R1187H	EP400_uc001ujl.2_Missense_Mutation_p.R1186H|EP400_uc001ujm.2_Missense_Mutation_p.R1187H	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1223	Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		GAGATGCAGCGCGTGAAGGGC	0.557													A	132497672	G	A	132497672	3	1	248	1	0	0	0	0	1	0	0	0	5149	1087	38	1	3619	1	EP400	12	132497672	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	18170	132497672	1354223	1135	123142											
EP400	57634	broad.mit.edu	37	chr12	132504716	132504716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctccacagggcccgcttcGaggacggccgcccatcgcca	12	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132504716G>A	uc001ujn.2	+	21	4435	c.4400G>A	c.(4399-4401)CGA>CAA	p.R1467Q	EP400_uc001ujl.2_Missense_Mutation_p.R1466Q|EP400_uc001ujm.2_Missense_Mutation_p.R1467Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1503					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		GGCCCGCTTCGAGGACGGCCG	0.652													A	132504716	G	A	132504716	3	1	248	1	0	0	0	0	1	0	0	0	5149	1058	37	1	4479	1	EP400	12	132504716	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7044	132504716	1347179	1136	123143											
DDX51	317781	broad.mit.edu	37	chr12	132628350	132628350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcggcgctggcgctggTgctgcgctcccccggcgcct	15	19	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132628350T>C	uc001ujy.3	-	2	448	c.409A>G	c.(409-411)ACC>GCC	p.T137A	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	137					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	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)		CTGGCGCTGGTGCTGCGCTCC	0.771													C	132628350	T	C	132628350	3	2	248	1	0	0	0	0	1	0	0	0	4369	1696	59	3	1647	3	DDX51	12	132628350	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	123634	132628350	1223545	1137	123144											
POLE	5426	broad.mit.edu	37	chr12	133236047	133236047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttccgagacatggaacGgttctcagagatgagctcga	12	10	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:133236047G>A	uc001uks.1	-	26	3153	c.3109C>T	c.(3109-3111)CGT>TGT	p.R1037C	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1010C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1037					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		GACATGGAACGGTTCTCAGAG	0.522								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133236047	G	A	133236047	3	1	248	1	0	0	0	0	1	0	0	0	12196	1116	39	1	3847	1	POLE	12	133236047	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	607697	133236047	615848	1138	123145											
ZNF268	10795	broad.mit.edu	37	chr12	133764591	133764591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagaagcagaagagtcGcagaatagagaaagtcctag	13	7	0	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:133764591G>A	uc010tcf.1	+	3	497	c.167G>A	c.(166-168)CGC>CAC	p.R56H	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_Intron|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.R56H	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	56						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		CAGAAGAGTCGCAGAATAGAG	0.483													A	133764591	G	A	133764591	3	1	248	1	0	0	0	0	1	0	0	0	17804	1087	38	1	173	1	ZNF268	12	133764591	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	528544	133764591	87304	1139	123146											
IFT88	8100	broad.mit.edu	37	chr13	21173662	21173662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagccattaaattctaccGaatggcattagaccaagttc	6	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:21173662G>A	uc001unh.2	+	13	1193	c.797G>A	c.(796-798)CGA>CAA	p.R266Q	IFT88_uc001uni.2_Missense_Mutation_p.R257Q|IFT88_uc001unj.2_Missense_Mutation_p.R256Q|IFT88_uc010tcq.1_Missense_Mutation_p.R237Q|IFT88_uc001unk.2_Missense_Mutation_p.R46Q	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	266	TPR 2.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		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)		AAATTCTACCGAATGGCATTA	0.244													A	21173662	G	A	21173662	3	1	248	1	0	0	0	0	1	0	0	0	7566	1058	37	1	839	1	IFT88	13	21173662	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		21173662	93996216	1140	123147											
LATS2	26524	broad.mit.edu	37	chr13	21549231	21549231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccttggtgctaccttcGctggcatcgttccaagggct	12	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:21549231G>A	uc009zzs.2	-	8	3410	c.3045C>T	c.(3043-3045)AGC>AGT	p.S1015S	LATS2_uc001unr.3_Silent_p.S1015S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	1015	AGC-kinase C-terminal.				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			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		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)		TGCTACCTTCGCTGGCATCGT	0.547													A	21549231	G	A	21549231	2	1	248	1	0	0	0	0	0	0	0	1	8647	1078	38	1		1	LATS2	13	21549231	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	375569	21549231	93620647	1141	123148											
ATP12A	479	broad.mit.edu	37	chr13	25284629	25284629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggaatacctagaatggaCgggctacacggctttctttg	13	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:25284629C>T	uc001upp.2	+	20	2982	c.2795C>T	c.(2794-2796)ACG>ATG	p.T932M	ATP12A_uc010aaa.2_Missense_Mutation_p.T938M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	932	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTAGAATGGACGGGCTACACG	0.368													T	25284629	C	T	25284629	3	4	248	1	0	0	0	0	1	0	0	0	1122	536	19	1	2891	1	ATP12A	13	25284629	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3735398	25284629	89885249	1142	123149											
CENPJ	55835	broad.mit.edu	37	chr13	25486095	25486095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcatacctggaagtgtgCactgcccagacaccatggtg	11	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:25486095C>T	uc001upt.3	-	3	810	c.557G>A	c.(556-558)TGC>TAC	p.C186Y	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	186					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			ovary(2)	2		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)		TGGAAGTGTGCACTGCCCAGA	0.453													T	25486095	C	T	25486095	3	4	248	1	0	0	0	0	1	0	0	0	3234	710	25	2	3519	2	CENPJ	13	25486095	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	201466	25486095	89683783	1143	123150											
FLT1	2321	broad.mit.edu	37	chr13	28883002	28883002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacatggaggtggcattcGgtaaaagttcttcaaaggtt	11	6	2	0	rs115595062	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:28883002G>A	uc001usb.3	-	28	3983	c.3698C>T	c.(3697-3699)CCG>CTG	p.P1233L	FLT1_uc010aap.2_Missense_Mutation_p.P238L|FLT1_uc010aaq.2_Missense_Mutation_p.P358L|FLT1_uc001usa.3_Missense_Mutation_p.P451L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1233	Cytoplasmic (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	GGTGGCATTCGGTAAAAGTTC	0.408													A	28883002	G	A	28883002	3	1	248	1	0	0	0	0	1	0	0	0	5941	1116	39	1	330	1	FLT1	13	28883002	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3396907	28883002	86286876	1144	123151											
MTUS2	23281	broad.mit.edu	37	chr13	29855976	29855976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggagtttacttccagCgccaaaatccacttccacac	6	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:29855976C>T	uc001usl.3	+	4	2868	c.2810C>T	c.(2809-2811)GCG>GTG	p.A937V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	927	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTACTTCCAGCGCCAAAATCC	0.557													T	29855976	C	T	29855976	3	4	248	1	0	0	0	0	1	0	0	0	9966	768	27	1	2824	1	MTUS2	13	29855976	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	972974	29855976	85313902	1145	123152											
HSPH1	10808	broad.mit.edu	37	chr13	31718004	31718004	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgaggtttgttgagcAtcagtttgtacctggggctg	15	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:31718004A>G	uc001utj.2	-	12	2039	c.1641T>C	c.(1639-1641)GAT>GAC	p.D547D	HSPH1_uc001utk.2_Intron|HSPH1_uc010aaw.2_Silent_p.D506D|HSPH1_uc001utl.2_Silent_p.D549D|HSPH1_uc010tds.1_Silent_p.D471D	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	547					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		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)		TTTGTTGAGCATCAGTTTGTA	0.453													G	31718004	A	G	31718004	2	3	248	1	0	0	0	0	0	0	0	1	7431	214	8	3		3	HSPH1	13	31718004	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1862028	31718004	83451874	1146	123153											
B3GALTL	145173	broad.mit.edu	37	chr13	31860901	31860901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttggaaagatttctgaatCgtagccaggacaaaacagca	9	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:31860901C>T	uc010aaz.2	+	12	1119	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	B3GALTL_uc001utn.3_RNA	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	337	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		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)		ATTTCTGAATCGTAGCCAGGA	0.308													T	31860901	C	T	31860901	3	4	248	1	0	0	0	0	1	0	0	0	1252	884	31	1	1055	1	B3GALTL	13	31860901	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	142897	31860901	83308977	1147	123154											
FRY	10129	broad.mit.edu	37	chr13	32811593	32811593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaactaaacatgaaccCgggaaccaccagcggcaaca	9	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:32811593C>T	uc001utx.2	+	44	6384	c.5888C>T	c.(5887-5889)CCG>CTG	p.P1963L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		AACATGAACCCGGGAACCACC	0.493													T	32811593	C	T	32811593	3	4	248	1	0	0	0	0	1	0	0	0	6063	652	23	1	6062	1	FRY	13	32811593	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	950692	32811593	82358285	1148	123155											
SMAD9	4093	broad.mit.edu	37	chr13	37427646	37427646	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgggccaggagctgagcGaagagctggttgttgaagac	17	7	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:37427646G>A	uc001uvw.2	-	6	1513	c.1170C>T	c.(1168-1170)TTC>TTT	p.F390F	SMAD9_uc001uvx.2_Silent_p.F353F|SMAD9_uc010tep.1_Silent_p.F183F	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	390	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				0		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)		GGAGCTGAGCGAAGAGCTGGT	0.532													A	37427646	G	A	37427646	2	1	248	1	0	0	0	0	0	0	0	1	14764	1049	37	1		1	SMAD9	13	37427646	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4616053	37427646	77742232	1149	123156											
FOXO1	2308	broad.mit.edu	37	chr13	41134135	41134135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgaccgaattagggcccAtcatgacgttctggcccaga	10	12	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:41134135A>G	uc001uxl.3	-	2	1878	c.1493T>C	c.(1492-1494)ATG>ACG	p.M498T	FOXO1_uc010acc.1_Missense_Mutation_p.M313T	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	498					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		ATTAGGGCCCATCATGACGTT	0.527													G	41134135	A	G	41134135	3	3	248	1	0	0	0	0	1	0	0	0	6023	217	8	3	478	3	FOXO1	13	41134135	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3706489	41134135	74035743	1150	123157											
KIAA0564	23078	broad.mit.edu	37	chr13	42142385	42142385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgtaaaatctgagggAtatccttggtatccatggca	10	7	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:42142385A>G	uc001uyj.2	-	45	5736	c.5666T>C	c.(5665-5667)ATC>ACC	p.I1889T		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1889	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AATCTGAGGGATATCCTTGGT	0.468													G	42142385	A	G	42142385	3	3	248	1	0	0	0	0	1	0	0	0	8185	333	12	3	55	3	KIAA0564	13	42142385	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1008250	42142385	73027493	1151	123158											
ZC3H13	23091	broad.mit.edu	37	chr13	46559623	46559623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagtatctcgaccttcaCggtccctgtagtcatgggca	11	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:46559623C>T	uc010tfw.1	-	9	1535	c.1529G>A	c.(1528-1530)CGT>CAT	p.R510H	ZC3H13_uc001vas.1_Missense_Mutation_p.R510H|ZC3H13_uc001vat.1_Missense_Mutation_p.R510H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	510	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TCGACCTTCACGGTCCCTGTA	0.483													T	46559623	C	T	46559623	3	4	248	1	0	0	0	0	1	0	0	0	17562	536	19	1	3197	1	ZC3H13	13	46559623	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4417238	46559623	68610255	1152	123159											
ZC3H13	23091	broad.mit.edu	37	chr13	46616331	46616331	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgactcctctgtatttcGtttctggggctcagtgtcca	11	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:46616331G>A	uc010tfw.1	-	3	313	c.307C>T	c.(307-309)CGA>TGA	p.R103*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R103*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R103*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	103							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TCTGTATTTCGTTTCTGGGGC	0.383													A	46616331	G	A	46616331	4	1	248	1	0	0	0	0	0	1	0	0	17562	1153	40	1	4443	1	ZC3H13	13	46616331	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	56708	46616331	68553547	1153	123160											
FNDC3A	22862	broad.mit.edu	37	chr13	49772303	49772303	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtgatcatggttcggaaatCcttgcctacagcatagactt	9	9	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:49772303C>A	uc001vcm.2	+	22	2981	c.2676C>A	c.(2674-2676)ATC>ATA	p.I892I	FNDC3A_uc001vcn.2_Silent_p.I892I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Silent_p.I836I	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	892	Fibronectin type-III 7.					Golgi membrane|integral to membrane				lung(2)	2		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)		GTTCGGAAATCCTTGCCTACA	0.388													A	49772303	C	A	49772303	2	1	248	1	0	0	0	0	0	0	0	1	5969	845	30	5		5	FNDC3A	13	49772303	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3155972	49772303	65397575	1154	123161											
ARL11	115761	broad.mit.edu	37	chr13	50204867	50204867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagcacagatgaagcccGcttacccgagtcggcggctg	14	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:50204867G>A	uc001vdf.1	+	2	430	c.284G>A	c.(283-285)CGC>CAC	p.R95H		NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	95					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|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;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GATGAAGCCCGCTTACCCGAG	0.612													A	50204867	G	A	50204867	3	1	248	1	0	0	0	0	1	0	0	0	927	1087	38	1	286	1	ARL11	13	50204867	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	432564	50204867	64965011	1155	123162											
DHRS12	79758	broad.mit.edu	37	chr13	52345977	52345977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtgtcggcccagccaGgatgcatggaagaaaaatgg	16	8	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:52345977G>T	uc001vfq.2	-	8	734	c.686C>A	c.(685-687)CCT>CAT	p.P229H	DHRS12_uc001vfr.1_Missense_Mutation_p.P180H|DHRS12_uc001vfs.1_Missense_Mutation_p.P180H			A0PJE2	DHR12_HUMAN	RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;	229							binding|oxidoreductase activity				0		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GGCCCAGCCAGGATGCATGGA	0.562													T	52345977	G	T	52345977	3	4	248	1	0	0	0	0	1	0	0	0	4488	1000	35	5	458	5	DHRS12	13	52345977	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2141110	52345977	62823901	1156	123163											
THSD1	55901	broad.mit.edu	37	chr13	52951934	52951934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtaggatttagggagaGggtttaatggaccacgggtt	16	3	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:52951934G>T	uc001vgo.2	-	5	2716	c.2171C>A	c.(2170-2172)CCT>CAT	p.P724H	THSD1_uc001vgp.2_Missense_Mutation_p.P671H|THSD1_uc010tgz.1_Missense_Mutation_p.P345H|THSD1_uc010aea.2_Missense_Mutation_p.P185H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	724	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		TTTAGGGAGAGGGTTTAATGG	0.537													T	52951934	G	T	52951934	3	4	248	1	0	0	0	0	1	0	0	0	15874	1000	35	5	391	5	THSD1	13	52951934	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	605957	52951934	62217944	1157	123164											
PCDH17	27253	broad.mit.edu	37	chr13	58299228	58299228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctcccttcatggcttccGatcagatggcaagggtcttt	9	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:58299228G>A	uc001vhq.1	+	4	4172	c.3280G>A	c.(3280-3282)GAT>AAT	p.D1094N	PCDH17_uc010aec.1_Missense_Mutation_p.D1093N|PCDH17_uc001vhr.1_Missense_Mutation_p.D183N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1094	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CATGGCTTCCGATCAGATGGC	0.542													A	58299228	G	A	58299228	3	1	248	1	0	0	0	0	1	0	0	0	11512	1058	37	1	3294	1	PCDH17	13	58299228	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5347294	58299228	56870650	1158	123165											
DIS3	22894	broad.mit.edu	37	chr13	73346884	73346884	+	Frame_Shift_Del	DEL	A	A	-													aaaactaagaacagcctgtgAaaaaggctgatggggaacat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:73346883_73346883GA>G	uc001vix.4	-	8	1708	c.1334_1334TC>C	c.(1333-1335)tcafs	p.S445fs	DIS3_uc001viy.4_Frame_Shift_Del_p.S415fs|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	445					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|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein 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)		AACAGCCTGTGAAAAAGGCTG	0.373										Multiple Myeloma(4;0.011)			-	73346884	A	-	73346884	7	5	248	1	0	1	0	1	0	0	0	0	4535	246	9	0	1595	0	DIS3	13	73346884	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	15047656	73346884	41822994	1159	123166											
SLITRK5	26050	broad.mit.edu	37	chr13	88330268	88330268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccggcaatagcctcccGgaatatcccaaattcccgtg	8	17	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:88330268G>A	uc001vln.2	+	2	2844	c.2625G>A	c.(2623-2625)CCG>CCA	p.P875P	SLITRK5_uc010tic.1_Silent_p.P634P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	875	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATAGCCTCCCGGAATATCCCA	0.602													A	88330268	G	A	88330268	2	1	248	1	0	0	0	0	0	0	0	1	14746	1103	39	1		1	SLITRK5	13	88330268	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	14983384	88330268	26839610	1160	123167											
DZIP1	22873	broad.mit.edu	37	chr13	96293904	96293904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcacgtccacagcccccGccaccttgtccacgtcgatg	8	19	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:96293904G>A	uc001vmk.2	-	5	1094	c.242C>T	c.(241-243)GCG>GTG	p.A81V	DZIP1_uc001vml.2_Missense_Mutation_p.A81V|DZIP1_uc001vmn.2_Missense_Mutation_p.A70V	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	81					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CACAGCCCCCGCCACCTTGTC	0.657													A	96293904	G	A	96293904	3	1	248	1	0	0	0	0	1	0	0	0	4863	1087	38	1	2437	1	DZIP1	13	96293904	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7963636	96293904	18875974	1161	123168											
DZIP1	22873	broad.mit.edu	37	chr13	96294002	96294002	+	Frame_Shift_Del	DEL	G	G	-													aggggccccgaagccgcgctGgggggcgcacaggccatgga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:96294001_96294001TG>T	uc001vmk.3	-	4	997	c.145_145CA>A	c.(145-147)agcfs	p.S49fs	DZIP1_uc001vml.3_Frame_Shift_Del_p.S49fs	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	49					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)			GAAGCCGCGCTGGGGGGCGCA	0.741													-	96294002	G	-	96294002	7	5	248	1	0	1	0	1	0	0	0	0	4863	1335	47	0	2535	0	DZIP1	13	96294002	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	98	96294002	18875876	1162	123169											
RNF113B	140432	broad.mit.edu	37	chr13	98828846	98828846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgtaatcggaacggtcGtggaggaatttgcagctgtc	14	7	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:98828846G>A	uc001vnk.2	-	1	676	c.645C>T	c.(643-645)CAC>CAT	p.H215H	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	215	C3H1-type.						nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGGAACGGTCGTGGAGGAATT	0.562													A	98828846	G	A	98828846	2	1	248	1	0	0	0	0	0	0	0	1	13428	1136	40	1		1	RNF113B	13	98828846	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2534844	98828846	16341032	1163	123170											
SLC15A1	6564	broad.mit.edu	37	chr13	99376273	99376273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtagacaatggagagCgacacaatggtcctgtgttt	12	6	0	2	rs8187823	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:99376273C>T	uc001vno.2	-	5	335	c.258G>A	c.(256-258)TCG>TCA	p.S86S	SLC15A1_uc001vnp.1_Silent_p.S54S	NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	86	Helical; (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CAATGGAGAGCGACACAATGG	0.473													T	99376273	C	T	99376273	2	4	248	1	0	0	0	0	0	0	0	1	14398	755	27	1		1	SLC15A1	13	99376273	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	547427	99376273	15793605	1164	123171											
LIG4	3981	broad.mit.edu	37	chr13	108863308	108863308	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtttgagggcatctttTccatctctaggtaaattaag	8	6	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:108863308T>C	uc001vqn.2	-	2	582	c.309A>G	c.(307-309)GGA>GGG	p.G103G	LIG4_uc001vqo.2_Silent_p.G103G|LIG4_uc010agg.1_Silent_p.G36G|LIG4_uc010agf.2_Silent_p.G103G|LIG4_uc001vqp.2_Silent_p.G103G	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	103					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				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGGCATCTTTTCCATCTCTAG	0.373								NHEJ					C	108863308	T	C	108863308	2	2	248	1	0	0	0	0	0	0	0	1	8783	1770	62	3		3	LIG4	13	108863308	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	9487035	108863308	6306570	1165	123172											
MYO16	23026	broad.mit.edu	37	chr13	109779669	109779669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcatttccaccccagCtccatgtcagtctgcgcggc	9	18	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:109779669C>A	uc001vqt.1	+	31	3882	c.3756C>A	c.(3754-3756)AGC>AGA	p.S1252R	MYO16_uc010agk.1_Missense_Mutation_p.S1274R|MYO16_uc010tjh.1_Missense_Mutation_p.S764R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1252					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			TCCACCCCAGCTCCATGTCAG	0.587													A	109779669	C	A	109779669	3	1	248	1	0	0	0	0	1	0	0	0	10064	796	28	5	3874	5	MYO16	13	109779669	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	916361	109779669	5390209	1166	123173											
COL4A2	1284	broad.mit.edu	37	chr13	111132605	111132605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccctggggacacaggcGctcctggccctgtgggcatg	17	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:111132605G>A	uc001vqx.2	+	31	2915	c.2626G>A	c.(2626-2628)GCT>ACT	p.A876T		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	876	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			GGACACAGGCGCTCCTGGCCC	0.552													A	111132605	G	A	111132605	3	1	248	1	0	0	0	0	1	0	0	0	3690	1087	38	1	2744	1	COL4A2	13	111132605	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1352936	111132605	4037273	1167	123174											
OR4K5	79317	broad.mit.edu	37	chr14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-													gacctaatgtagtagacagcTttttttgtgatcttcctcga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					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)		TAGTAGACAGCTTTTTTTGTG	0.418													-	20389294	T	-	20389294	7	5	248	1	0	1	0	1	0	0	0	0	11073	1609	56	0	531	0	OR4K5	14	20389294	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08		20389294	86960246	1168	123175											
OR4K5	79317	broad.mit.edu	37	chr14	20389595	20389595	+	Frame_Shift_Del	DEL	T	T	-													tcttgccatattttacactgTtttcacccccgtcctaaacc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:20389594_20389594GT>G	uc010tkw.2	+	0	829	c.829_829GT>G	c.(829-831)gttfs	p.V277fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	277					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)		ATTTTACACTGTTTTCACCCC	0.398													-	20389595	T	-	20389595	7	5	248	1	0	1	0	1	0	0	0	0	11073	1725	60	0	832	0	OR4K5	14	20389595	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	301	20389595	86959945	1169	123176											
PARP2	10038	broad.mit.edu	37	chr14	20822242	20822242	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttgttttttgctatAggatgaagaggaaacaaaga	10	2	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:20822242A>G	uc001vxc.2	+	8	668	c.640_splice	c.e8-2	p.D214_splice	PARP2_uc001vxd.2_Splice_Site_p.D201_splice|PARP2_uc001vxb.1_Splice_Site_p.D214_splice|PARP2_uc010tle.1_5'Flank	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2						protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	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)		TTTTTGCTATAGGATGAAGAG	0.254								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					G	20822242	A	G	20822242	5	3	248	1	0	0	0	0	0	0	1	0	11461	434	15	3	668	3	PARP2	14	20822242	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	432647	20822242	86527298	1170	123177											
TEP1	7011	broad.mit.edu	37	chr14	20854777	20854777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaaaagccggatgctgCgccatctggggataagcaga	13	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:20854777C>T	uc001vxe.2	-	19	2730	c.2690G>A	c.(2689-2691)CGC>CAC	p.R897H	TEP1_uc010ahk.2_Missense_Mutation_p.R247H|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R789H	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	897					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		CCGGATGCTGCGCCATCTGGG	0.587													T	20854777	C	T	20854777	3	4	248	1	0	0	0	0	1	0	0	0	15756	768	27	1	5341	1	TEP1	14	20854777	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	32535	20854777	86494763	1171	123178											
ZNF219	51222	broad.mit.edu	37	chr14	21558939	21558940	+	Frame_Shift_Ins	INS	-	-	A													gcagcggtggagggcaccccINScaggcccggcctcgcctccc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:21558939_21558940insA	uc001vzr.2	-	5	2345_2346	c.1924_1925insT	c.(1924-1926)GGGfs	p.G642fs	ZNF219_uc001vzs.2_Frame_Shift_Ins_p.G642fs|ZNF219_uc010aik.1_Frame_Shift_Ins_p.G642fs	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	642					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			central_nervous_system(1)	1	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)		GAGGGCACCCCCAGGCCCGGCC	0.738													A	21558940	-	A	21558939	7	5	248	1	0	1	1	0	0	0	0	0	17770	623	22	0	247	0	ZNF219	14	21558939	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	704162	21558939	85790601	1172	123179											
MMP14	4323	broad.mit.edu	37	chr14	23313707	23313709	+	In_Frame_Del	DEL	TCT	TCT	-													gaggaaggatggcaaattcgTcttcttcaaaggtaaccagg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:23313707_23313709delTCT	uc001whc.2	+	7	1373_1375	c.1139_1141delTCT	c.(1138-1143)GTCTTC>GTC	p.F382del		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	382	Hemopexin-like 2.|Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GGCAAATTCGTCTTCTTCAAAGG	0.522													-	23313709	TCT	-	23313707	7	5	248	1	0	1	0	1	0	0	0	0	9653	1667	58	0	1165	0	MMP14	14	23313707	In_Frame_Del	DEL	TCT	TCGA-FP-A4BE-01A-12D-A24D-08	1754768	23313707	84035833	1173	123180											
JPH4	84502	broad.mit.edu	37	chr14	24044957	24044957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgacgggcgccctcgacaGccctgtccaccttctcctta	8	19	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24044957G>A	uc001wkq.2	-	4	2006	c.1088C>T	c.(1087-1089)GCT>GTT	p.A363V	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.A363V|JPH4_uc001wks.2_Missense_Mutation_p.A363V	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	363	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCCCTCGACAGCCCTGTCCAC	0.682													A	24044957	G	A	24044957	3	1	248	1	0	0	0	0	1	0	0	0	7963	971	34	2	814	2	JPH4	14	24044957	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	731250	24044957	83304583	1174	123181											
LRRC16B	90668	broad.mit.edu	37	chr14	24538438	24538438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggaacctgatagaagaCggcctcctgaccccacaggt	11	13	0	4	rs139310553	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24538438C>T	uc001wlj.2	+	39	4232	c.4075C>T	c.(4075-4077)CGG>TGG	p.R1359W	LRRC16B_uc001wlk.2_Missense_Mutation_p.R412W|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1359										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TGATAGAAGACGGCCTCCTGA	0.642													T	24538438	C	T	24538438	3	4	248	1	0	0	0	0	1	0	0	0	8972	527	19	1	4229	1	LRRC16B	14	24538438	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	493481	24538438	82811102	1175	123182											
PCK2	5106	broad.mit.edu	37	chr14	24567463	24567463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgagtagagagcaagacGgtgattgtaactccttctca	11	9	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24567463G>A	uc001wlt.2	+	3	459	c.327G>A	c.(325-327)ACG>ACA	p.T109T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.T121T|PCK2_uc001wls.2_Silent_p.T109T|PCK2_uc010tnw.1_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	109					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		AGAGCAAGACGGTGATTGTAA	0.617													A	24567463	G	A	24567463	2	1	248	1	0	0	0	0	0	0	0	1	11582	1103	39	1		1	PCK2	14	24567463	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	29025	24567463	82782077	1176	123183											
CIDEB	27141	broad.mit.edu	37	chr14	24776700	24776700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccctccgtccaaactcCgagcttatattagatactga	6	13	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24776700C>T	uc001won.2	-	2	187	c.63G>A	c.(61-63)TCG>TCA	p.S21S	CIDEB_uc001woo.2_Silent_p.S21S|CIDEB_uc001wop.2_Silent_p.S21S|LTB4R2_uc001woq.1_5'Flank|LTB4R2_uc010alo.2_5'Flank|LTB4R2_uc001wor.2_5'Flank	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	21					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)		GTCCAAACTCCGAGCTTATAT	0.552													T	24776700	C	T	24776700	2	4	248	1	0	0	0	0	0	0	0	1	3426	639	23	1		1	CIDEB	14	24776700	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	209237	24776700	82572840	1177	123184											
KHNYN	23351	broad.mit.edu	37	chr14	24901776	24901776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcctggccagccagacCtccgccatattgtcattgac	9	14	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24901776C>A	uc001wph.3	+	3	1511	c.1309C>A	c.(1309-1311)CTC>ATC	p.L437I	KHNYN_uc010tpc.1_Missense_Mutation_p.L478I|KHNYN_uc010alw.2_Missense_Mutation_p.L437I	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	437										ovary(2)|liver(1)	3						CCAGCCAGACCTCCGCCATAT	0.612											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24901776	C	A	24901776	3	1	248	1	0	0	0	0	1	0	0	0	8150	681	24	5	1315	5	KHNYN	14	24901776	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	125076	24901776	82447764	1178	123185											
C14orf183	196913	broad.mit.edu	37	chr14	50559327	50559327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgacgtttggctctgacaTccatcttactattcgagaac	8	10	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:50559327T>C	uc010tqk.1	-	1	35	c.35A>G	c.(34-36)GAT>GGT	p.D12G		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	12											0						GGCTCTGACATCCATCTTACT	0.353													C	50559327	T	C	50559327	3	2	248	1	0	0	0	0	1	0	0	0	1766	1435	50	3	958	3	C14orf183	14	50559327	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	25657551	50559327	56790213	1179	123186											
TRIM9	114088	broad.mit.edu	37	chr14	51561366	51561366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggaaacacgcggacgcCgttgggggacttctggcacg	18	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:51561366C>T	uc001wyx.3	-	1	1057	c.292G>A	c.(292-294)GGC>AGC	p.G98S	TRIM9_uc001wyy.2_Missense_Mutation_p.G98S|TRIM9_uc001wyz.3_Missense_Mutation_p.G98S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	98					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					ACGCGGACGCCGTTGGGGGAC	0.692													T	51561366	C	T	51561366	3	4	248	1	0	0	0	0	1	0	0	0	16546	652	23	1	1930	1	TRIM9	14	51561366	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1002039	51561366	55788174	1180	123187											
SOCS4	122809	broad.mit.edu	37	chr14	55510745	55510745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttttagacgctatagtcGttctcttcatgctagaattg	8	7	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:55510745G>A	uc001xbo.2	+	3	1551	c.986G>A	c.(985-987)CGT>CAT	p.R329H	SOCS4_uc001xbp.2_Missense_Mutation_p.R329H	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	329	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						CGCTATAGTCGTTCTCTTCAT	0.433													A	55510745	G	A	55510745	3	1	248	1	0	0	0	0	1	0	0	0	14916	1145	40	1	988	1	SOCS4	14	55510745	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3949379	55510745	51838795	1181	123188											
C14orf105	55195	broad.mit.edu	37	chr14	57938106	57938106	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaactcatcgaaaagtggGattctctctgtcctggtcct	8	10	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:57938106G>A	uc001xcy.2	-	6	1001	c.858C>T	c.(856-858)ATC>ATT	p.I286I	C14orf105_uc010trl.1_Silent_p.I326I|C14orf105_uc010trm.1_Silent_p.I197I|C14orf105_uc010trn.1_Silent_p.I197I|C14orf105_uc001xcz.2_Silent_p.I285I	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	286											0						CGAAAAGTGGGATTCTCTCTG	0.428													A	57938106	G	A	57938106	2	1	248	1	0	0	0	0	0	0	0	1	1737	1164	41	4		4	C14orf105	14	57938106	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2427361	57938106	49411434	1182	123189											
DHRS7	51635	broad.mit.edu	37	chr14	60622863	60622863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccaccatatcagtcagCtcccattctatggaaggaat	6	13	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:60622863C>T	uc001xes.2	-	2	325	c.141G>A	c.(139-141)GAG>GAA	p.E47E	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_5'UTR|DHRS7_uc001xeu.2_Silent_p.E47E	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	47							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TATCAGTCAGCTCCCATTCTA	0.408													T	60622863	C	T	60622863	2	4	248	1	0	0	0	0	0	0	0	1	4495	796	28	2		2	DHRS7	14	60622863	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2684757	60622863	46726677	1183	123190											
C14orf39	317761	broad.mit.edu	37	chr14	60938374	60938374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttctcataatattcaCgtgaaaagggtgtttctgag	8	6	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:60938374C>T	uc001xez.3	-	6	517	c.407G>A	c.(406-408)CGT>CAT	p.R136H	C14orf39_uc010apo.2_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	136										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATAATATTCACGTGAAAAGGG	0.274													T	60938374	C	T	60938374	3	4	248	1	0	0	0	0	1	0	0	0	1772	536	19	1	1408	1	C14orf39	14	60938374	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	315511	60938374	46411166	1184	123191											
HIF1A	3091	broad.mit.edu	37	chr14	62200988	62200988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacagtgcattgtatgtgTgaattacgttgtgaggtaag	12	5	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:62200988T>C	uc001xfq.2	+	8	1417	c.1013T>C	c.(1012-1014)GTG>GCG	p.V338A	HIF1A_uc001xfr.2_Missense_Mutation_p.V338A|HIF1A_uc001xfs.2_Missense_Mutation_p.V339A	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	338	Interaction with TSGA10 (By similarity).|PAC.				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			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ATTGTATGTGTGAATTACGTT	0.348													C	62200988	T	C	62200988	3	2	248	1	0	0	0	0	1	0	0	0	7103	1696	59	3	1043	3	HIF1A	14	62200988	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1262614	62200988	45148552	1185	123192											
SYNE2	23224	broad.mit.edu	37	chr14	64443342	64443342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccctccatcaaactgaagCttggctccaggaggtagaag	10	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:64443342C>A	uc001xgm.2	+	12	1420	c.1190C>A	c.(1189-1191)GCT>GAT	p.A397D	SYNE2_uc001xgl.2_Missense_Mutation_p.A397D	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	397	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAACTGAAGCTTGGCTCCAG	0.388													A	64443342	C	A	64443342	3	1	248	1	0	0	0	0	1	0	0	0	15443	797	28	5	1232	5	SYNE2	14	64443342	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2242354	64443342	42906198	1186	123193											
MTHFD1	4522	broad.mit.edu	37	chr14	64921543	64921543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcattctgcccattcgcGacatccgcgccagcgttggg	11	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:64921543G>A	uc001xhb.2	+	26	3055	c.2668G>A	c.(2668-2670)GAC>AAC	p.D890N	MTHFD1_uc010aqf.2_Missense_Mutation_p.D946N|ZBTB25_uc001xhc.2_Intron	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	890	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 (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				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)	GCCCATTCGCGACATCCGCGC	0.532													A	64921543	G	A	64921543	3	1	248	1	0	0	0	0	1	0	0	0	9927	1058	37	1	2770	1	MTHFD1	14	64921543	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	478201	64921543	42427997	1187	123194											
FAM71D	161142	broad.mit.edu	37	chr14	67669864	67669864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgagccaactgggtgacCgtaggcatctgtttttccag	11	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:67669864C>T	uc001xja.1	+	4	467	c.213C>T	c.(211-213)ACC>ACT	p.T71T	FAM71D_uc010aqn.1_RNA	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	71										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ACTGGGTGACCGTAGGCATCT	0.473													T	67669864	C	T	67669864	2	4	248	1	0	0	0	0	0	0	0	1	5610	639	23	1		1	FAM71D	14	67669864	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2748321	67669864	39679676	1188	123195											
ARG2	384	broad.mit.edu	37	chr14	68112428	68112428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgttgtctgggttgatgCccatgctgacatcaacacac	10	10	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:68112428C>T	uc001xjs.2	+	4	547	c.431C>T	c.(430-432)GCC>GTC	p.A144V		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	144					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				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)	TGGGTTGATGCCCATGCTGAC	0.498													T	68112428	C	T	68112428	3	4	248	1	0	0	0	0	1	0	0	0	858	739	26	2	445	2	ARG2	14	68112428	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	442564	68112428	39237112	1189	123196											
ADAM20	8748	broad.mit.edu	37	chr14	70991036	70991036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcagaaacactaattgGcttgatttcataaacaaggt	9	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:70991036G>A	uc001xme.2	-	2	834	c.589C>T	c.(589-591)CCA>TCA	p.P197S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	147					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			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)		ACACTAATTGGCTTGATTTCA	0.413													A	70991036	G	A	70991036	3	1	248	1	0	0	0	0	1	0	0	0	242	1203	42	2	1745	2	ADAM20	14	70991036	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2878608	70991036	36358504	1190	123197											
HEATR4	399671	broad.mit.edu	37	chr14	73989192	73989192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccccaggccttcgaggaCgcttgctctggatccatcgg	12	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:73989192C>T	uc010tub.1	-	3	987	c.665G>A	c.(664-666)CGT>CAT	p.R222H	HEATR4_uc010tua.1_Missense_Mutation_p.R175H	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCTTCGAGGACGCTTGCTCTG	0.612													T	73989192	C	T	73989192	3	4	248	1	0	0	0	0	1	0	0	0	7030	536	19	1	2479	1	HEATR4	14	73989192	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2998156	73989192	33360348	1191	123198											
ACOT1	641371	broad.mit.edu	37	chr14	74008260	74008260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcctgctggagtatcGggctagtctgctggctggga	18	8	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:74008260G>A	uc001xol.1	+	2	719	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Missense_Mutation_p.R174Q	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	174					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CTGGAGTATCGGGCTAGTCTG	0.483													A	74008260	G	A	74008260	3	1	248	1	0	0	0	0	1	0	0	0	148	1116	39	1	527	1	ACOT1	14	74008260	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	19068	74008260	33341280	1192	123199											
PROX2	283571	broad.mit.edu	37	chr14	75329378	75329378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaggaccaatggttgcGgcttagtagttctccaaggt	13	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:75329378G>A	uc001xqr.1	-	1	1160	c.1160C>T	c.(1159-1161)CCG>CTG	p.P387L	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	387					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAATGGTTGCGGCTTAGTAGT	0.557													A	75329378	G	A	75329378	3	1	248	1	0	0	0	0	1	0	0	0	12561	1116	39	1	634	1	PROX2	14	75329378	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1321118	75329378	32020162	1193	123200											
SNW1	22938	broad.mit.edu	37	chr14	78217748	78217748	+	Frame_Shift_Del	DEL	T	T	-													aatggccagcgcattcgacaTttttttctttcgtcccatat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:78217748delT	uc001xuf.2	-	3	271	c.244delA	c.(244-246)ATGfs	p.M82fs	SNW1_uc010tvm.1_Frame_Shift_Del_p.M7fs|SNW1_uc010asu.2_Intron|SNW1_uc010tvn.1_Frame_Shift_Del_p.M82fs	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	82					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			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCATTCGACATTTTTTTCTTT	0.408													-	78217748	T	-	78217748	7	5	248	1	0	1	0	1	0	0	0	0	14879	1493	52	0	1414	0	SNW1	14	78217748	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	2888370	78217748	29131792	1194	123201											
GTF2A1	2957	broad.mit.edu	37	chr14	81658960	81658960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcttcttcagatgatGtatccccagttccatcaact	4	13	5	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:81658960G>A	uc001xvf.1	-	7	1268	c.836C>T	c.(835-837)ACA>ATA	p.T279I	GTF2A1_uc010atb.1_Missense_Mutation_p.T229I|GTF2A1_uc001xvg.1_Missense_Mutation_p.T240I	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	279					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ttcAGATGATGTATCCCCAGT	0.284													A	81658960	G	A	81658960	3	1	248	1	0	0	0	0	1	0	0	0	6852	1377	48	4	306	4	GTF2A1	14	81658960	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3441212	81658960	25690580	1195	123202											
KCNK10	54207	broad.mit.edu	37	chr14	88729604	88729604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatcccgcaggaattccGccttctccaaggcgatggta	10	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:88729604G>A	uc001xwo.2	-	2	786	c.329C>T	c.(328-330)GCG>GTG	p.A110V	KCNK10_uc001xwm.2_Missense_Mutation_p.A115V|KCNK10_uc001xwn.2_Missense_Mutation_p.A115V	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	110					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CAGGAATTCCGCCTTCTCCAA	0.582													A	88729604	G	A	88729604	3	1	248	1	0	0	0	0	1	0	0	0	8059	1087	38	1	1311	1	KCNK10	14	88729604	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7070644	88729604	18619936	1196	123203											
PTPN21	11099	broad.mit.edu	37	chr14	88935293	88935293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggcgatcatgatctcCgacaaaatcaccacgccagt	9	13	3	1	rs142289734		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:88935293C>T	uc001xwv.3	-	18	3694	c.3363G>A	c.(3361-3363)TCG>TCA	p.S1121S	PTPN21_uc010twc.1_Silent_p.S917S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	1121	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TCATGATCTCCGACAAAATCA	0.537													T	88935293	C	T	88935293	2	4	248	1	0	0	0	0	0	0	0	1	12786	639	23	1		1	PTPN21	14	88935293	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	205689	88935293	18414247	1197	123204											
KCNK13	56659	broad.mit.edu	37	chr14	90651285	90651285	+	Frame_Shift_Del	DEL	G	G	-													cccgggacaatgaattctcaGggggggtgggagcctttgca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:90651284_90651284AG>A	uc001xye.1	+	1	1606	c.1164_1164AG>A	c.(1162-1164)tcafs	p.S388fs		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	388						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGAATTCTCAGGGGGGGTGG	0.592													-	90651285	G	-	90651285	7	5	248	1	0	1	0	1	0	0	0	0	8061	1000	35	0	1171	0	KCNK13	14	90651285	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	1715992	90651285	16698255	1198	123205											
CATSPERB	79820	broad.mit.edu	37	chr14	92126207	92126207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcgagtaaacctttccaCgttgagaaacaaaagtaata	7	7	0	1	rs145060222		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:92126207C>T	uc001xzs.1	-	15	1546	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	469					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACCTTTCCACGTTGAGAAAC	0.363													T	92126207	C	T	92126207	3	4	248	1	0	0	0	0	1	0	0	0	2691	536	19	1	1996	1	CATSPERB	14	92126207	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1474922	92126207	15223333	1199	123206											
SLC24A4	123041	broad.mit.edu	37	chr14	92958534	92958534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtgaagatcaacagcCgggggctggtctattccgtg	14	10	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:92958534C>T	uc001yak.2	+	16	1639	c.1615C>T	c.(1615-1617)CGG>TGG	p.R539W	SLC24A4_uc001yai.2_Missense_Mutation_p.R492W|SLC24A4_uc010twm.1_Missense_Mutation_p.R537W|SLC24A4_uc001yaj.2_Missense_Mutation_p.R520W|SLC24A4_uc010auj.2_Missense_Mutation_p.R428W|SLC24A4_uc010twn.1_Missense_Mutation_p.R312W|SLC24A4_uc001yan.2_Missense_Mutation_p.R250W	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	556	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		GATCAACAGCCGGGGGCTGGT	0.512													T	92958534	C	T	92958534	3	4	248	1	0	0	0	0	1	0	0	0	14468	643	23	1	1677	1	SLC24A4	14	92958534	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	832327	92958534	14391006	1200	123207											
PPP4R4	57718	broad.mit.edu	37	chr14	94696964	94696964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaatgcagttaacggCtgcgatgtcatttctgacca	11	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:94696964C>T	uc001ycs.1	+	4	489	c.335C>T	c.(334-336)GCT>GTT	p.A112V		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	112						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						CAGTTAACGGCTGCGATGTCA	0.418													T	94696964	C	T	94696964	3	4	248	1	0	0	0	0	1	0	0	0	12405	797	28	2	422	2	PPP4R4	14	94696964	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1738430	94696964	12652576	1201	123208											
C14orf49	161176	broad.mit.edu	37	chr14	95884238	95884238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggccagggtgcagctGcggtcctcttccctgattgg	14	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:95884238G>A	uc001yei.3	-	17	2868	c.2853C>T	c.(2851-2853)CGC>CGT	p.R951R	C14orf49_uc010avi.2_Silent_p.R946R	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	951	KASH.|Perinuclear space (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGGTGCAGCTGCGGTCCTCTT	0.473													A	95884238	G	A	95884238	2	1	248	1	0	0	0	0	0	0	0	1	1776	1306	46	2		2	C14orf49	14	95884238	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1187274	95884238	11465302	1202	123209											
AK7	122481	broad.mit.edu	37	chr14	96924479	96924479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagtcgaagaggaagaGgaggaggagaatgtggaaga	19	1	0	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:96924479G>A	uc001yfn.2	+	12	1331	c.1287G>A	c.(1285-1287)GAG>GAA	p.E429E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	429	Adenylate kinase.|Potential.|Poly-Glu.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		aagaggaagaggaggaggaga	0.413													A	96924479	G	A	96924479	2	1	248	1	0	0	0	0	0	0	0	1	444	991	35	4		4	AK7	14	96924479	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1040241	96924479	10425061	1203	123210											
BCL11B	64919	broad.mit.edu	37	chr14	99640505	99640505	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttagctcctctcggcctGctcgattttgacgtcgttag	10	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99640505G>A	uc001yga.2	-	4	2935	c.2668C>T	c.(2668-2670)CAG>TAG	p.Q890*	BCL11B_uc001ygb.2_Nonsense_Mutation_p.Q819*	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	890						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTCTCGGCCTGCTCGATTTTG	0.483			T	TLX3	T-ALL								A	99640505	G	A	99640505	4	1	248	1	0	0	0	0	0	1	0	0	1364	1328	46	2	20	2	BCL11B	14	99640505	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2716026	99640505	7709035	1204	123211											
BCL11B	64919	broad.mit.edu	37	chr14	99641398	99641398	+	Missense_Mutation	SNP	G	G	A													tgaccttgcccagcaccagcGccttctcgtcagccagcgcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99641398G>A	uc001yga.2	-	4	2042	c.1775C>T	c.(1774-1776)GCG>GTG	p.A592V	BCL11B_uc001ygb.2_Missense_Mutation_p.A521V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	592	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGCACCAGCGCCTTCTCGTC	0.562			T	TLX3	T-ALL								A	99641398	G	A	99641398	3	1	248	1	0	0	0	0	1	0	0	0	1364	1087	38	1	913	1	BCL11B	14	99641398	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	893	99641398	7708142	1205	123212	641	2									
BCL11B	64919	broad.mit.edu	37	chr14	99641405	99641405	+	Missense_Mutation	SNP	C	C	T													gcccagcaccagcgccttctCgtcagccagcgccttggccg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99641405C>T	uc001yga.2	-	4	2035	c.1768G>A	c.(1768-1770)GAG>AAG	p.E590K	BCL11B_uc001ygb.2_Missense_Mutation_p.E519K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	590	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGCGCCTTCTCGTCAGCCAGC	0.562			T	TLX3	T-ALL								T	99641405	C	T	99641405	3	4	248	1	0	0	0	0	1	0	0	0	1364	893	31	1	920	1	BCL11B	14	99641405	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7	99641405	7708135	1206	123213	641	2									
BCL11B	64919	broad.mit.edu	37	chr14	99641702	99641702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctggcggccgagagccCgtcgtcggagcggccggcca	19	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99641702C>T	uc001yga.2	-	4	1738	c.1471G>A	c.(1471-1473)GGG>AGG	p.G491R	BCL11B_uc001ygb.2_Missense_Mutation_p.G420R	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	491						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCGAGAGCCCGTCGTCGGAG	0.731			T	TLX3	T-ALL								T	99641702	C	T	99641702	3	4	248	1	0	0	0	0	1	0	0	0	1364	652	23	1	1217	1	BCL11B	14	99641702	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	297	99641702	7707838	1207	123214											
HHIPL1	84439	broad.mit.edu	37	chr14	100126626	100126626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgcagatgacttgcTgccgattttcgcctacccgc	8	18	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:100126626T>C	uc010avs.2	+	5	1450	c.1385T>C	c.(1384-1386)CTG>CCG	p.L462P	HHIPL1_uc001ygl.1_Missense_Mutation_p.L462P	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	462					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				GATGACTTGCTGCCGATTTTC	0.622													C	100126626	T	C	100126626	3	2	248	1	0	0	0	0	1	0	0	0	7093	1580	55	3	1403	3	HHIPL1	14	100126626	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	484924	100126626	7222914	1208	123215											
EML1	2009	broad.mit.edu	37	chr14	100364621	100364621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaggacaagttgcgggCacatcgaaggatggaaaagt	14	7	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:100364621C>T	uc001ygs.2	+	8	948	c.879C>T	c.(877-879)GGC>GGT	p.G293G	EML1_uc010avt.1_Silent_p.G280G|EML1_uc010tww.1_Silent_p.G281G|EML1_uc001ygq.2_Silent_p.G312G|EML1_uc001ygr.2_Silent_p.G312G	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	293	WD 1.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAGTTGCGGGCACATCGAAGG	0.373													T	100364621	C	T	100364621	2	4	248	1	0	0	0	0	0	0	0	1	5096	697	25	2		2	EML1	14	100364621	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	237995	100364621	6984919	1209	123216											
C14orf68	283600	broad.mit.edu	37	chr14	100795708	100795708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctctctgcagatgtccCgggcgtgctggtggccgggg	18	11	2	1	rs149037459		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:100795708C>T	uc001yhc.2	+	6	726	c.653C>T	c.(652-654)CCG>CTG	p.P218L	C14orf68_uc001yhd.2_Missense_Mutation_p.P72L	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	218	Helical; Name=5; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GCAGATGTCCCGGGCGTGCTG	0.687													T	100795708	C	T	100795708	3	4	248	1	0	0	0	0	1	0	0	0	1778	652	23	1	675	1	C14orf68	14	100795708	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	431087	100795708	6553832	1210	123217											
PPP2R5C	5527	broad.mit.edu	37	chr14	102376002	102376002	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctatttgatgactgtacaCaacagttcaaagcagagaaa	8	7	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:102376002C>T	uc001yko.2	+	11	1368	c.1228C>T	c.(1228-1230)CAA>TAA	p.Q410*	PPP2R5C_uc010txr.1_Nonsense_Mutation_p.Q441*|PPP2R5C_uc001ykk.2_Nonsense_Mutation_p.Q465*|PPP2R5C_uc001ykn.2_Nonsense_Mutation_p.Q410*|PPP2R5C_uc001ykp.2_Nonsense_Mutation_p.Q410*|PPP2R5C_uc001ykq.2_3'UTR	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	410					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 binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						TGACTGTACACAACAGTTCAA	0.383													T	102376002	C	T	102376002	4	4	248	1	0	0	0	0	0	1	0	0	12394	479	17	4	1639	4	PPP2R5C	14	102376002	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1580294	102376002	4973538	1211	123218											
DYNC1H1	1778	broad.mit.edu	37	chr14	102442054	102442054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattatgatttgtagaggacGtcggtgatgaaggagaagaa	14	2	0	6			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:102442054G>A	uc001yks.2	+	2	426	c.262G>A	c.(262-264)GTC>ATC	p.V88I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	88	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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGTAGAGGACGTCGGTGATGA	0.303													A	102442054	G	A	102442054	3	1	248	1	0	0	0	0	1	0	0	0	4841	1145	40	1	268	1	DYNC1H1	14	102442054	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	66052	102442054	4907486	1212	123219											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505980	102505980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcttgtcccaggtggcGtttaaccgagtggctcgagg	14	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:102505980G>A	uc001yks.2	+	62	11765	c.11601G>A	c.(11599-11601)GCG>GCA	p.A3867A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3867					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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CCCAGGTGGCGTTTAACCGAG	0.577													A	102505980	G	A	102505980	2	1	248	1	0	0	0	0	0	0	0	1	4841	1132	40	1		1	DYNC1H1	14	102505980	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	63926	102505980	4843560	1213	123220											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410594	103410594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaggatcagccgtttcaCggccacaaacaggcaggtgc	12	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103410594C>T	uc001ymi.1	-	30	4274	c.4042G>A	c.(4042-4044)GTG>ATG	p.V1348M	CDC42BPB_uc001ymj.1_Missense_Mutation_p.V450M	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1348	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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCCGTTTCACGGCCACAAAC	0.557													T	103410594	C	T	103410594	3	4	248	1	0	0	0	0	1	0	0	0	3073	536	19	1	1125	1	CDC42BPB	14	103410594	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	904614	103410594	3938946	1214	123221											
CDC42BPB	9578	broad.mit.edu	37	chr14	103478524	103478524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagctgtgtaaatggtttAgctacaagtaaaacagtaaa	8	6	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103478524A>G	uc001ymi.1	-	2	409	c.177T>C	c.(175-177)GCT>GCC	p.A59A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	59					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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TAAATGGTTTAGCTACAAGTA	0.308													G	103478524	A	G	103478524	2	3	248	1	0	0	0	0	0	0	0	1	3073	434	15	3		3	CDC42BPB	14	103478524	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	67930	103478524	3871016	1215	123222											
TNFAIP2	7127	broad.mit.edu	37	chr14	103596141	103596141	+	Frame_Shift_Del	DEL	C	C	-													tggggctcgggagcctcctgCcccccaggcagatccgactg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103596140_103596140GC>G	uc001ymm.1	+	2	1055	c.924_924GC>G	c.(922-924)ctgfs	p.L308fs	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Intron|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	308					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GGAGCCTCCTGCCCCCCAGGC	0.647													-	103596141	C	-	103596141	7	5	248	1	0	1	0	1	0	0	0	0	16270	739	26	0	935	0	TNFAIP2	14	103596141	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	117617	103596141	3753399	1216	123223											
CKB	1152	broad.mit.edu	37	chr14	103986238	103986238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtcgtcgatggcctggCcctgctccagccgctgctcc	13	16	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103986238C>T	uc001ynf.1	-	8	1189	c.1109G>A	c.(1108-1110)GGC>GAC	p.G370D	CKB_uc001yne.1_Missense_Mutation_p.G192D|CKB_uc010awr.1_Missense_Mutation_p.G301D	NM_001823	NP_001814	P12277	KCRB_HUMAN	brain creatine kinase	370					creatine metabolic process	cytosol	ATP binding|creatine kinase activity				0		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GATGGCCTGGCCCTGCTCCAG	0.632													T	103986238	C	T	103986238	3	4	248	1	0	0	0	0	1	0	0	0	3446	739	26	2	40	2	CKB	14	103986238	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	390097	103986238	3363302	1217	123224											
ASPG	374569	broad.mit.edu	37	chr14	104575600	104575600	+	Frame_Shift_Del	DEL	G	G	-													ttgggttgctgcgggaagccGgggcctccctgtccacccag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:104575600delG	uc001yoq.1	+	13	1528	c.1468delG	c.(1468-1470)GGGfs	p.G490fs	ASPG_uc001yop.1_Frame_Shift_Del_p.G490fs|ASPG_uc001yor.1_Frame_Shift_Del_p.G490fs	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	490	ANK 4.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						GCGGGAAGCCGGGGCCTCCCT	0.647													-	104575600	G	-	104575600	7	5	248	1	0	1	0	1	0	0	0	0	1052	1116	39	0	1518	0	ASPG	14	104575600	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	589362	104575600	2773940	1218	123225											
KIF26A	26153	broad.mit.edu	37	chr14	104641909	104641909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagagagaggacagcagCgcttggcctgagctgctggt	16	10	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:104641909C>T	uc001yos.3	+	12	2784	c.2784C>T	c.(2782-2784)AGC>AGT	p.S928S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	928					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGACAGCAGCGCTTGGCCTG	0.657													T	104641909	C	T	104641909	2	4	248	1	0	0	0	0	0	0	0	1	8294	767	27	1		1	KIF26A	14	104641909	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	66309	104641909	2707631	1219	123226											
KIAA0284	283638	broad.mit.edu	37	chr14	105353507	105353507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccccacaaccccccaGcctctgcgggcacagaagga	9	20	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105353507G>A	uc010axb.2	+	12	3155	c.2931G>A	c.(2929-2931)CAG>CAA	p.Q977Q	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.Q907Q|KIAA0284_uc001yps.2_Silent_p.Q883Q|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	977						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CAACCCCCCAGCCTCTGCGGG	0.706													A	105353507	G	A	105353507	2	1	248	1	0	0	0	0	0	0	0	1	8166	962	34	2		2	KIAA0284	14	105353507	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	711598	105353507	1996033	1220	123227											
KIAA0284	283638	broad.mit.edu	37	chr14	105353894	105353894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctcccagaaggggccGcaggccttgacccgctccaa	12	17	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105353894G>A	uc010axb.2	+	12	3542	c.3318G>A	c.(3316-3318)CCG>CCA	p.P1106P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.P1036P|KIAA0284_uc001yps.2_Silent_p.P1012P|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1106						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGAAGGGGCCGCAGGCCTTGA	0.721													A	105353894	G	A	105353894	2	1	248	1	0	0	0	0	0	0	0	1	8166	1074	38	1		1	KIAA0284	14	105353894	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	387	105353894	1995646	1221	123228											
PLD4	122618	broad.mit.edu	37	chr14	105397224	105397224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcatctcacttcaaccGtttccagcccttccacggcc	4	19	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105397224G>A	uc001ypu.1	+	7	1004	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PLD4_uc010tyl.1_Missense_Mutation_p.R295H	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	288					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CACTTCAACCGTTTCCAGCCC	0.577													A	105397224	G	A	105397224	3	1	248	1	0	0	0	0	1	0	0	0	12048	1145	40	1	885	1	PLD4	14	105397224	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	43330	105397224	1952316	1222	123229											
GPR132	29933	broad.mit.edu	37	chr14	105518036	105518036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccccgactctccagcgcGtacaccacggccacgaagcg	11	19	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105518036G>A	uc001yqd.2	-	4	1337	c.438C>T	c.(436-438)TAC>TAT	p.Y146Y	GPR132_uc001yqc.2_Translation_Start_Site|GPR132_uc001yqe.2_Silent_p.Y137Y	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	146	Cytoplasmic (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		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)		TCTCCAGCGCGTACACCACGG	0.622													A	105518036	G	A	105518036	2	1	248	1	0	0	0	0	0	0	0	1	6642	1140	40	1		1	GPR132	14	105518036	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	120812	105518036	1831504	1223	123230											
JAG2	3714	broad.mit.edu	37	chr14	105609430	105609430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctctttcctgcgcttgcGtgtccaccacacgcacagga	9	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105609430G>A	uc001yqg.2	-	26	3723	c.3319C>T	c.(3319-3321)CGC>TGC	p.R1107C	JAG2_uc010axf.2_Translation_Start_Site|JAG2_uc001yqf.2_Missense_Mutation_p.R511C|JAG2_uc001yqh.2_Missense_Mutation_p.R1069C	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	1107	Cytoplasmic (Potential).				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			lung(3)|breast(2)	5		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)		CTGCGCTTGCGTGTCCACCAC	0.682													A	105609430	G	A	105609430	3	1	248	1	0	0	0	0	1	0	0	0	7935	1145	40	1	401	1	JAG2	14	105609430	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	91394	105609430	1740110	1224	123231											
JAG2	3714	broad.mit.edu	37	chr14	105615281	105615281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggccactcactctcatgGcagtaggtgccagtaaagcc	11	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105615281G>A	uc001yqg.2	-	14	2303	c.1899C>T	c.(1897-1899)TGC>TGT	p.C633C	JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_Silent_p.C37C|JAG2_uc001yqh.2_Silent_p.C595C	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	633	Extracellular (Potential).|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			lung(3)|breast(2)	5		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)		CACTCTCATGGCAGTAGGTGC	0.662													A	105615281	G	A	105615281	2	1	248	1	0	0	0	0	0	0	0	1	7935	1195	42	2		2	JAG2	14	105615281	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5851	105615281	1734259	1225	123232											
MTA1	9112	broad.mit.edu	37	chr14	105930455	105930455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgggccagagccctgGggctggccgggcctgcgaga	20	14	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105930455G>A	uc001yqx.2	+	13	1350	c.1163G>A	c.(1162-1164)GGG>GAG	p.G388E	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.G149E	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	388					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		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)		CAGAGCCCTGGGGCTGGCCGG	0.652													A	105930455	G	A	105930455	3	1	248	1	0	0	0	0	1	0	0	0	9908	1232	43	4	1213	4	MTA1	14	105930455	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	315174	105930455	1419085	1226	123233											
TUBGCP5	114791	broad.mit.edu	37	chr15	22848297	22848297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagatgggaaggtaactgTgagaaacaatattatagtaa	11	2	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:22848297T>C	uc001yur.3	+	9	1017	c.887T>C	c.(886-888)GTG>GCG	p.V296A	TUBGCP5_uc001yuq.2_Missense_Mutation_p.V296A|TUBGCP5_uc010axz.1_5'Flank	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	296					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		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)		AAGGTAACTGTGAGAAACAAT	0.264													C	22848297	T	C	22848297	3	2	248	1	0	0	0	0	1	0	0	0	16766	1696	59	3	921	3	TUBGCP5	15	22848297	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08		22848297	79683095	1227	123234											
NIPA1	123606	broad.mit.edu	37	chr15	23049054	23049054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccgaacaccgaggagtcGaagcactccagcgccttgtt	11	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:23049054G>A	uc001yvc.2	-	5	790	c.765C>T	c.(763-765)TTC>TTT	p.F255F	NIPA1_uc001yvd.2_Silent_p.F85F|NIPA1_uc001yve.2_Silent_p.F180F	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	255	Cytoplasmic (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCGAGGAGTCGAAGCACTCCA	0.617													A	23049054	G	A	23049054	2	1	248	1	0	0	0	0	0	0	0	1	10422	1049	37	1		1	NIPA1	15	23049054	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	200757	23049054	79482338	1228	123235											
MAGEL2	54551	broad.mit.edu	37	chr15	23890686	23890686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccttcgaggaggtcctgCgctctttagaggagcccctg	13	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:23890686C>T	uc001ywj.3	-	1	490	c.395G>A	c.(394-396)CGC>CAC	p.R132H		NM_019066	NP_061939			MAGE-like protein 2												0		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)		GGAGGTCCTGCGCTCTTTAGA	0.577													T	23890686	C	T	23890686	3	4	248	1	0	0	0	0	1	0	0	0	9189	768	27	1	1549	1	MAGEL2	15	23890686	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	841632	23890686	78640706	1229	123236											
ATP10A	57194	broad.mit.edu	37	chr15	25928619	25928619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaactggaaccaaaacagGaggcccacgaacatctgaaa	8	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:25928619G>A	uc010ayu.2	-	17	3412	c.3306C>T	c.(3304-3306)CTC>CTT	p.L1102L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1102	Helical; (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		ACCAAAACAGGAGGCCCACGA	0.493													A	25928619	G	A	25928619	2	1	248	1	0	0	0	0	0	0	0	1	1116	1161	41	4		4	ATP10A	15	25928619	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2037933	25928619	76602773	1230	123237											
GABRB3	2562	broad.mit.edu	37	chr15	26866506	26866506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgaagacggatcatgCggtttttcactgtcactcca	11	10	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:26866506C>T	uc001zaz.2	-	4	558	c.416G>A	c.(415-417)CGC>CAC	p.R139H	GABRB3_uc010uae.1_Missense_Mutation_p.R54H|GABRB3_uc001zba.2_Missense_Mutation_p.R139H|GABRB3_uc001zbb.2_Missense_Mutation_p.R195H|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	139	Extracellular (Probable).				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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	ACGGATCATGCGGTTTTTCAC	0.488													T	26866506	C	T	26866506	3	4	248	1	0	0	0	0	1	0	0	0	6168	768	27	1	1029	1	GABRB3	15	26866506	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	937887	26866506	75664886	1231	123238											
GABRB3	2562	broad.mit.edu	37	chr15	26866602	26866602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccactcgattgtcaagcGtgaggttgagagggatccca	13	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:26866602G>A	uc001zaz.2	-	4	462	c.320C>T	c.(319-321)ACG>ATG	p.T107M	GABRB3_uc010uae.1_Missense_Mutation_p.T22M|GABRB3_uc001zba.2_Missense_Mutation_p.T107M|GABRB3_uc001zbb.2_Missense_Mutation_p.T163M|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	107	Extracellular (Probable).				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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	ATTGTCAAGCGTGAGGTTGAG	0.428													A	26866602	G	A	26866602	3	1	248	1	0	0	0	0	1	0	0	0	6168	1145	40	1	1125	1	GABRB3	15	26866602	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	96	26866602	75664790	1232	123239											
HERC2	8924	broad.mit.edu	37	chr15	28359775	28359775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctatagtttatcgccagCcgcacgtactccgcgcggtt	9	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:28359775C>T	uc001zbj.2	-	90	14002	c.13896G>A	c.(13894-13896)CGG>CGA	p.R4632R	HERC2_uc001zbi.2_Silent_p.R321R	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4632	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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		TTATCGCCAGCCGCACGTACT	0.517													T	28359775	C	T	28359775	2	4	248	1	0	0	0	0	0	0	0	1	7058	726	26	2		2	HERC2	15	28359775	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1493173	28359775	74171617	1233	123240											
HERC2	8924	broad.mit.edu	37	chr15	28386775	28386775	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtccagtcatctggtcGcctacaatacacatcaagtg	9	11	3	1	rs149707599	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:28386775G>A	uc001zbj.2	-	78	11924	c.11818C>T	c.(11818-11820)CGA>TGA	p.R3940*		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3940	WD 5.				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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		TCATCTGGTCGCCTACAATAC	0.478													A	28386775	G	A	28386775	4	1	248	1	0	0	0	0	0	1	0	0	7058	1101	38	1	2750	1	HERC2	15	28386775	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	27000	28386775	74144617	1234	123241											
TRPM1	4308	broad.mit.edu	37	chr15	31320618	31320618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctggagtgagccaggcGccggggatacagggaggaag	20	7	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:31320618G>A	uc001zfm.2	-	24	3272	c.3144C>T	c.(3142-3144)GGC>GGT	p.G1048G	TRPM1_uc010azy.2_Silent_p.G955G|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1048	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		TGAGCCAGGCGCCGGGGATAC	0.502													A	31320618	G	A	31320618	2	1	248	1	0	0	0	0	0	0	0	1	16582	1074	38	1		1	TRPM1	15	31320618	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2933843	31320618	71210774	1235	123242											
TRPM1	4308	broad.mit.edu	37	chr15	31341635	31341635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgttgcatgttcactccGttttcaatcaggagcttcac	8	10	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:31341635G>A	uc001zfm.2	-	12	1577	c.1449C>T	c.(1447-1449)AAC>AAT	p.N483N	TRPM1_uc010azy.2_Silent_p.N390N|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	483	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		TGTTCACTCCGTTTTCAATCA	0.512													A	31341635	G	A	31341635	2	1	248	1	0	0	0	0	0	0	0	1	16582	1136	40	1		1	TRPM1	15	31341635	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	21017	31341635	71189757	1236	123243											
RYR3	6263	broad.mit.edu	37	chr15	33954431	33954431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgaggctctacagcgCggtgtgcgccctgggaaaca	14	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:33954431C>T	uc001zhi.2	+	35	4770	c.4700C>T	c.(4699-4701)GCG>GTG	p.A1567V	RYR3_uc010bar.2_Missense_Mutation_p.A1567V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1567	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CTCTACAGCGCGGTGTGCGCC	0.607													T	33954431	C	T	33954431	3	4	248	1	0	0	0	0	1	0	0	0	13770	768	27	1	4838	1	RYR3	15	33954431	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2612796	33954431	68576961	1237	123244											
AQR	9716	broad.mit.edu	37	chr15	35185902	35185902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattagagtcctctgttctgGgaagttgtggtagatgttgg	14	4	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:35185902G>A	uc001ziv.2	-	23	2714	c.2533C>T	c.(2533-2535)CCA>TCA	p.P845S		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	845						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		CTCTGTTCTGGGAAGTTGTGG	0.333													A	35185902	G	A	35185902	3	1	248	1	0	0	0	0	1	0	0	0	835	1232	43	4	1976	4	AQR	15	35185902	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1231471	35185902	67345490	1238	123245											
AQR	9716	broad.mit.edu	37	chr15	35202356	35202356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccattcatctttgatgTgatctctgacattgagattt	6	9	3	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:35202356T>C	uc001ziv.2	-	17	1824	c.1643A>G	c.(1642-1644)CAC>CGC	p.H548R		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	548						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		ATCTTTGATGTGATCTCTGAC	0.388													C	35202356	T	C	35202356	3	2	248	1	0	0	0	0	1	0	0	0	835	1696	59	3	2890	3	AQR	15	35202356	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	16454	35202356	67329036	1239	123246											
DISP2	85455	broad.mit.edu	37	chr15	40659625	40659625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctcaagtacagcctgCtcttcctgcccaccccaaag	5	19	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:40659625C>T	uc001zlk.1	+	8	1401	c.1312C>T	c.(1312-1314)CTC>TTC	p.L438F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	438					smoothened signaling pathway	integral to membrane				ovary(2)	2		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)		GTACAGCCTGCTCTTCCTGCC	0.582													T	40659625	C	T	40659625	3	4	248	1	0	0	0	0	1	0	0	0	4540	797	28	2	1342	2	DISP2	15	40659625	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5457269	40659625	61871767	1240	123247											
C15orf23	90417	broad.mit.edu	37	chr15	40675100	40675100	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacatggctgtctacagagTgcgattcccacccacttccg	8	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:40675100T>A	uc001zll.2	+	1	179	c.64T>A	c.(64-66)TGC>AGC	p.C22S	C15orf23_uc010ucp.1_Missense_Mutation_p.C22S|C15orf23_uc001zlo.2_Missense_Mutation_p.C22S|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	22						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GTCTACAGAGTGCGATTCCCA	0.577													A	40675100	T	A	40675100	3	1	248	1	0	0	0	0	1	0	0	0	1785	1696	59	5	66	5	C15orf23	15	40675100	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	15475	40675100	61856292	1241	123248											
BAHD1	22893	broad.mit.edu	37	chr15	40756212	40756212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccctctgggagaacccCgagtcaggtacctctccctc	9	17	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:40756212C>T	uc001zlu.2	+	4	2039	c.1968C>T	c.(1966-1968)CCC>CCT	p.P656P	BAHD1_uc001zlt.2_Silent_p.P655P|BAHD1_uc010bbp.1_Silent_p.P655P|BAHD1_uc001zlv.2_Silent_p.P656P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	656	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGGAGAACCCCGAGTCAGGTA	0.607													T	40756212	C	T	40756212	2	4	248	1	0	0	0	0	0	0	0	1	1297	639	23	1		1	BAHD1	15	40756212	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	81112	40756212	61775180	1242	123249											
DNAJC17	55192	broad.mit.edu	37	chr15	41068766	41068766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctagtgtcctggtgctccGgctctcctcttcctcctcac	7	18	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:41068766G>A	uc001zms.1	-	5	366	c.355C>T	c.(355-357)CGG>TGG	p.R119W	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	119					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		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)		CTGGTGCTCCGGCTCTCCTCT	0.632													A	41068766	G	A	41068766	3	1	248	1	0	0	0	0	1	0	0	0	4636	1115	39	1	587	1	DNAJC17	15	41068766	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	312554	41068766	61462626	1243	123250											
CHAC1	79094	broad.mit.edu	37	chr15	41247907	41247907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagcacctggcagccatcGtggacgctgtgggcaccatg	14	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:41247907G>A	uc001znh.2	+	3	750	c.730G>A	c.(730-732)GTG>ATG	p.V244M	CHAC1_uc010uct.1_Missense_Mutation_p.V199M	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	244					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		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)		GGCAGCCATCGTGGACGCTGT	0.657													A	41247907	G	A	41247907	3	1	248	1	0	0	0	0	1	0	0	0	3308	1145	40	1	740	1	CHAC1	15	41247907	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	179141	41247907	61283485	1244	123251											
INO80	54617	broad.mit.edu	37	chr15	41388423	41388423	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaatggtccaaccggAgggccctctccaagtactga	11	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:41388423A>C	uc001zni.2	-	2	299	c.86T>G	c.(85-87)CTC>CGC	p.L29R	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	29	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				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			ovary(2)|pancreas(1)|skin(1)	4						GTCCAACCGGAGGGCCCTCTC	0.458													C	41388423	A	C	41388423	3	2	248	1	0	0	0	0	1	0	0	0	7746	304	11	5	4724	5	INO80	15	41388423	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	140516	41388423	61142969	1245	123252											
MGA	23269	broad.mit.edu	37	chr15	42005475	42005475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagcgccaacctgctcacTgccgccgaccagactgcatg	10	16	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:42005475T>C	uc001zog.1	+	9	3302	c.3211T>C	c.(3211-3213)TGC>CGC	p.C1071R	MGA_uc010ucy.1_Missense_Mutation_p.C1071R|MGA_uc010ucz.1_Missense_Mutation_p.C1071R	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	1071						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		ACCTGCTCACTGCCGCCGACC	0.468													C	42005475	T	C	42005475	3	2	248	1	0	0	0	0	1	0	0	0	9540	1580	55	3	3241	3	MGA	15	42005475	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	617052	42005475	60525917	1246	123253											
MAPKBP1	23005	broad.mit.edu	37	chr15	42067510	42067510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccattaccagccggatcAagaatctgttgagatctcca	7	12	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:42067510A>G	uc001zok.3	+	2	323	c.37A>G	c.(37-39)AAG>GAG	p.K13E	MAPKBP1_uc001zoj.3_Missense_Mutation_p.K13E|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.K13E|MAPKBP1_uc010udb.1_5'UTR|MAPKBP1_uc010bck.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	13										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		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)		CAGCCGGATCAAGAATCTGTT	0.552													G	42067510	A	G	42067510	3	3	248	1	0	0	0	0	1	0	0	0	9292	131	5	3	39	3	MAPKBP1	15	42067510	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	62035	42067510	60463882	1247	123254											
SPTBN5	51332	broad.mit.edu	37	chr15	42178461	42178461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagtctggaaaatcccgcGcctccagctgcatctgcttc	10	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:42178461G>A	uc001zos.2	-	7	1220	c.887C>T	c.(886-888)GCG>GTG	p.A296V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	331	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		AAAATCCCGCGCCTCCAGCTG	0.622													A	42178461	G	A	42178461	3	1	248	1	0	0	0	0	1	0	0	0	15121	1087	38	1	10280	1	SPTBN5	15	42178461	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	110951	42178461	60352931	1248	123255											
B2M	567	broad.mit.edu	37	chr15	45007871	45007872	+	Frame_Shift_Del	DEL	TT	TT	-													tgccgtgtgaaccatgtgacTttgtcacagcccaagatagt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:45007871_45007872delTT	uc001zuc.2	+	2	378_379	c.318_319delTT	c.(316-321)ACTTTGfs	p.T106fs	B2M_uc010uek.1_Frame_Shift_Del_p.T106fs|B2M_uc010bdx.1_3'UTR	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	106_107	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			ovary(2)|skin(1)	3		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)		ACCATGTGACTTTGTCACAGCC	0.406													-	45007872	TT	-	45007871	7	5	248	1	0	1	0	1	0	0	0	0	1244	1596	56	0	324	0	B2M	15	45007871	Frame_Shift_Del	DEL	TT	TCGA-FP-A4BE-01A-12D-A24D-08	2829410	45007871	57523521	1249	123256											
MYO5C	55930	broad.mit.edu	37	chr15	52497137	52497139	+	In_Frame_Del	DEL	AAG	AAG	-													tcagcgtgaccgccccgatcAagaagaagagctgcttcacc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:52497137_52497139delAAG	uc010bff.2	-	38	4880_4882	c.4743_4745delCTT	c.(4741-4746)TTCTTG>TTG	p.F1581del	MYO5C_uc010uga.1_RNA|uc002abv.2_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1581	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		CGCCCCGATCAAGAAGAAGAGCT	0.571													-	52497139	AAG	-	52497137	7	5	248	1	0	1	0	1	0	0	0	0	10080	131	5	0	499	0	MYO5C	15	52497137	In_Frame_Del	DEL	AAG	TCGA-FP-A4BE-01A-12D-A24D-08	7489266	52497137	50034255	1250	123257											
SLTM	79811	broad.mit.edu	37	chr15	59181732	59181732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctttctcgagcaatccGttcagcttccttacgacgtt	6	14	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:59181732G>A	uc002afp.2	-	16	2189	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	SLTM_uc002afn.2_Missense_Mutation_p.R243W|SLTM_uc002afo.2_Missense_Mutation_p.R683W|SLTM_uc002afq.2_Missense_Mutation_p.R270W|SLTM_uc010bgd.2_Missense_Mutation_p.R270W	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	701	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CGAGCAATCCGTTCAGCTTCC	0.403													A	59181732	G	A	59181732	3	1	248	1	0	0	0	0	1	0	0	0	14754	1144	40	1	1027	1	SLTM	15	59181732	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6684595	59181732	43349660	1251	123258											
TLN2	83660	broad.mit.edu	37	chr15	63097974	63097974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgtgtcagatatgttgaCggcttgcaaggtaaagagct	13	7	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:63097974C>T	uc002alb.3	+	48	6653	c.6653C>T	c.(6652-6654)ACG>ATG	p.T2218M	TLN2_uc002alc.3_Missense_Mutation_p.T611M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	2218					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GATATGTTGACGGCTTGCAAG	0.527													T	63097974	C	T	63097974	3	4	248	1	0	0	0	0	1	0	0	0	15945	536	19	1	6843	1	TLN2	15	63097974	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3916242	63097974	39433418	1252	123259											
SNX22	79856	broad.mit.edu	37	chr15	64446653	64446653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagcatcagcccagaTaaagcccagccaaaggcggc	10	14	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:64446653T>C	uc002anc.1	+	7	587	c.528T>C	c.(526-528)GAT>GAC	p.D176D	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	176					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						TCAGCCCAGATAAAGCCCAGC	0.577											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	64446653	T	C	64446653	2	2	248	1	0	0	0	0	0	0	0	1	14894	1403	49	3		3	SNX22	15	64446653	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1348679	64446653	38084739	1253	123260											
CSNK1G1	53944	broad.mit.edu	37	chr15	64508804	64508804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgtcttcaaagtaaatgttCggtcacagaggtcaaacaag	9	9	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:64508804C>T	uc002anf.2	-	5	881	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R134Q|CSNK1G1_uc002anh.1_Missense_Mutation_p.R134Q|CSNK1G1_uc002anj.2_Missense_Mutation_p.R107Q	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	134	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						AGTAAATGTTCGGTCACAGAG	0.468													T	64508804	C	T	64508804	3	4	248	1	0	0	0	0	1	0	0	0	3954	884	31	1	899	1	CSNK1G1	15	64508804	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	62151	64508804	38022588	1254	123261											
RASL12	51285	broad.mit.edu	37	chr15	65347485	65347485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctcttctccagctcccGccgtgcctctcgcactgcct	10	19	3	0	rs148588039	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65347485G>A	uc002aoi.1	-	5	768	c.553C>T	c.(553-555)CGG>TGG	p.R185W	RASL12_uc002aoj.1_Missense_Mutation_p.R166W|RASL12_uc010uir.1_Missense_Mutation_p.R174W	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	185					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						TCCAGCTCCCGCCGTGCCTCT	0.662													A	65347485	G	A	65347485	3	1	248	1	0	0	0	0	1	0	0	0	13083	1086	38	1	251	1	RASL12	15	65347485	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	838681	65347485	37183907	1255	123262											
CLPX	10845	broad.mit.edu	37	chr15	65445919	65445919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcgtgcacctgtttttCgttctagtgccaatctggct	10	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65445919C>T	uc002aom.2	-	12	1742	c.1670G>A	c.(1669-1671)CGA>CAA	p.R557Q	CLPX_uc010uiu.1_RNA	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	557					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				0						ACCTGTTTTTCGTTCTAGTGC	0.333													T	65445919	C	T	65445919	3	4	248	1	0	0	0	0	1	0	0	0	3556	884	31	1	243	1	CLPX	15	65445919	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	98434	65445919	37085473	1256	123263											
PARP16	54956	broad.mit.edu	37	chr15	65559077	65559077	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaacaggcgtgtgaggAgccccagtcagcttttggat	15	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65559077A>G	uc002aoo.2	-	3	596	c.342T>C	c.(340-342)GCT>GCC	p.A114A	PARP16_uc002aop.2_Intron|PARP16_uc002aoq.2_Silent_p.A114A	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	114	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						GCGTGTGAGGAGCCCCAGTCA	0.438													G	65559077	A	G	65559077	2	3	248	1	0	0	0	0	0	0	0	1	11460	291	11	3		3	PARP16	15	65559077	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	113158	65559077	36972315	1257	123264											
SLC24A1	9187	broad.mit.edu	37	chr15	65917564	65917564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctcaacaacccctacGgtcagggcaaagctgaccat	8	15	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65917564G>A	uc010ujf.1	+	2	1433	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T	SLC24A1_uc010ujd.1_Silent_p.T382T|SLC24A1_uc010uje.1_Silent_p.T382T|SLC24A1_uc010ujg.1_Silent_p.T382T|SLC24A1_uc010ujh.1_Silent_p.T382T	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	382	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						CAACCCCTACGGTCAGGGCAA	0.582													A	65917564	G	A	65917564	2	1	248	1	0	0	0	0	0	0	0	1	14465	1103	39	1		1	SLC24A1	15	65917564	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	358487	65917564	36613828	1258	123265											
TBC1D21	161514	broad.mit.edu	37	chr15	74177418	74177419	+	Frame_Shift_Ins	INS	-	-	T													cgaccacgagaccttctggcINSttttccagttcttcctgcag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:74177418_74177419insT	uc002avz.2	+	6	636_637	c.553_554insT	c.(553-555)CTTfs	p.L185fs	TBC1D21_uc010ulc.1_Frame_Shift_Ins_p.L149fs	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	185	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(2)	2						GACCTTCTGGCTTTTCCAGTTC	0.584													T	74177419	-	T	74177418	7	5	248	1	0	1	1	0	0	0	0	0	15607	797	28	0	575	0	TBC1D21	15	74177418	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	8259854	74177418	28353974	1259	123266	642	2									
TBC1D21	161514	broad.mit.edu	37	chr15	74177419	74177420	+	Frame_Shift_Ins	INS	-	-	T													gaccacgagaccttctggctINStttccagttcttcctgcaga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:74177418_74177419C>CT	uc002avz.3	+	5	636_637	c.553_554C>CT	c.(553-555)cttfs	p.L185fs	TBC1D21_uc010ulc.2_Frame_Shift_Ins_p.L149fs	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	185	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.L185F(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						GACCTTCTGGCTTTTCCAGTTC	0.584													T	74177420	-	T	74177419	7	5	248	1	0	1	1	0	0	0	0	0	15607	1609	56	0	576	0	TBC1D21	15	74177419	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	74177419	28353973	1260	123267	642	2									
C15orf39	56905	broad.mit.edu	37	chr15	75499165	75499165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggcccagcccctggggcCaccctgtcaggacaccgggc	14	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:75499165C>A	uc002azp.3	+	2	1096	c.776C>A	c.(775-777)CCA>CAA	p.P259Q	C15orf39_uc002azq.3_Missense_Mutation_p.P259Q|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	259											0						CCCCTGGGGCCACCCTGTCAG	0.532													A	75499165	C	A	75499165	3	1	248	1	0	0	0	0	1	0	0	0	1793	594	21	5	778	5	C15orf39	15	75499165	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1321746	75499165	27032227	1261	123268											
NEIL1	79661	broad.mit.edu	37	chr15	75646105	75646105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggctacgggtcagagagCggggaggaggactttgctgc	18	7	1	1	rs111431272		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:75646105C>T	uc002bad.2	+	6	1250	c.744C>T	c.(742-744)AGC>AGT	p.S248S	NEIL1_uc002bae.2_Silent_p.S334S|MIR631_hsa-mir-631|MI0003645_5'Flank	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	248					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			ovary(1)	1						GGTCAGAGAGCGGGGAGGAGG	0.632								BER_DNA_glycosylases					T	75646105	C	T	75646105	2	4	248	1	0	0	0	0	0	0	0	1	10318	767	27	1		1	NEIL1	15	75646105	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	146940	75646105	26885287	1262	123269											
UBE2Q2	92912	broad.mit.edu	37	chr15	76170361	76170364	+	Splice_Site	DEL	AAGT	AAGT	-													actggcatgttaaactgcagAagtaagtggctttttaatgc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:76170361_76170364delAAGT	uc002bbg.2	+	7	1120	c.734_splice	c.e7+1	p.K245_splice	UBE2Q2_uc002bbh.2_Splice_Site_p.K210_splice|UBE2Q2_uc010umn.1_Splice_Site_p.K229_splice|UBE2Q2_uc002bbi.2_Splice_Site_p.K126_splice	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q 2 isoform 1						protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2						TAAACTGCAGAAGTAAGTGGCTTT	0.358													-	76170364	AAGT	-	76170361	8	5	248	1	0	1	0	1	0	0	1	0	16867	260	9	0	895	0	UBE2Q2	15	76170361	Splice_Site	DEL	AAGT	TCGA-FP-A4BE-01A-12D-A24D-08	524256	76170361	26361031	1263	123270											
RASGRF1	5923	broad.mit.edu	37	chr15	79320163	79320163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgatggccaggtttttcCggatgttctccgtctcactt	10	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:79320163C>T	uc002beq.2	-	9	1676	c.1301G>A	c.(1300-1302)CGG>CAG	p.R434Q	RASGRF1_uc002bep.2_Missense_Mutation_p.R434Q|RASGRF1_uc010blm.1_Missense_Mutation_p.R356Q|RASGRF1_uc002ber.3_Missense_Mutation_p.R434Q	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	434					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			skin(4)|ovary(1)|central_nervous_system(1)	6						CAGGTTTTTCCGGATGTTCTC	0.547													T	79320163	C	T	79320163	3	4	248	1	0	0	0	0	1	0	0	0	13072	652	23	1	2600	1	RASGRF1	15	79320163	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3149802	79320163	23211229	1264	123271											
BNC1	646	broad.mit.edu	37	chr15	83932512	83932512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgctacctcggcaggCgtggctggactgcggtagaa	16	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:83932512C>T	uc002bjt.1	-	4	1579	c.1491G>A	c.(1489-1491)ACG>ACA	p.T497T	BNC1_uc010uos.1_Silent_p.T485T	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	497					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCTCGGCAGGCGTGGCTGGAC	0.522													T	83932512	C	T	83932512	2	4	248	1	0	0	0	0	0	0	0	1	1474	755	27	1		1	BNC1	15	83932512	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4612349	83932512	18598880	1265	123272											
ZNF710	374655	broad.mit.edu	37	chr15	90611773	90611773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcgtgtgcactgaatgCggcatggagttcagccagat	12	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:90611773C>T	uc002bov.1	+	2	1527	c.1404C>T	c.(1402-1404)TGC>TGT	p.C468C		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	468	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			GCACTGAATGCGGCATGGAGT	0.597													T	90611773	C	T	90611773	2	4	248	1	0	0	0	0	0	0	0	1	18112	776	27	1		1	ZNF710	15	90611773	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6679261	90611773	11919619	1266	123273											
ZNF774	342132	broad.mit.edu	37	chr15	90903589	90903589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctaagaacccacactggcGagaggccctatacgtgcatt	9	13	0	2	rs141233852	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:90903589G>A	uc002bpk.3	+	4	712	c.526G>A	c.(526-528)GAG>AAG	p.E176K		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCACACTGGCGAGAGGCCCTA	0.498													A	90903589	G	A	90903589	3	1	248	1	0	0	0	0	1	0	0	0	18144	1059	37	1	536	1	ZNF774	15	90903589	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	291816	90903589	11627803	1267	123274											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459421	92459421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgctgtcggcgctgcccGagttcctgacccaccagtac	11	17	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:92459421G>A	uc002bqx.2	+	2	580	c.379G>A	c.(379-381)GAG>AAG	p.E127K	SLCO3A1_uc002bqy.2_Missense_Mutation_p.E127K|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.E69K	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	127	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCGCTGCCCGAGTTCCTGAC	0.736													A	92459421	G	A	92459421	3	1	248	1	0	0	0	0	1	0	0	0	14728	1059	37	1	385	1	SLCO3A1	15	92459421	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1555832	92459421	10071971	1268	123275											
ASB7	140460	broad.mit.edu	37	chr15	101170038	101170038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatgttccttcagagagGggcagacacaaacttgggtc	12	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:101170038G>T	uc002bwk.2	+	5	1377	c.608G>T	c.(607-609)GGG>GTG	p.G203V	ASB7_uc002bwj.2_Missense_Mutation_p.G203V	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	203	ANK 6.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			CTTCAGAGAGGGGCAGACACA	0.463													T	101170038	G	T	101170038	3	4	248	1	0	0	0	0	1	0	0	0	1028	1232	43	5	614	5	ASB7	15	101170038	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8710617	101170038	1361354	1269	123276											
PDIA2	64714	broad.mit.edu	37	chr16	332296	332296	+	Splice_Site	DEL	G	G	-													tagctgaggtttccccaataGgggacctggctgttctgaag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:332296delG	uc002cgn.1	+	4	413	c.-695_splice	c.e4-1		ARHGDIG_uc002cgm.1_Splice_Site_p.G113_splice|PDIA2_uc010bqt.1_5'Flank|PDIA2_uc002cgo.1_5'Flank	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor						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			central_nervous_system(1)|skin(1)	2		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)				TTCCCCAATAGGGGACCTGGC	0.577													-	332296	G	-	332296	8	5	248	1	0	1	0	1	0	0	1	0	11668	1014	35	0		0	PDIA2	16	332296	Splice_Site	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08		332296	90022457	1270	123277											
SOLH	6650	broad.mit.edu	37	chr16	597592	597593	+	Frame_Shift_Ins	INS	-	-	C													gcgcagccgacgcgaggttcINSccccccagctgcagccaccg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:597591_597592T>TC	uc002chi.3	+	3	1116_1117	c.753_754T>TC	c.(751-756)gttcccfs	p.V251fs	SOLH_uc002chh.1_Frame_Shift_Ins_p.V251fs	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	251					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GACGCGAGGTTCCCCCCCAGCT	0.752													C	597593	-	C	597592	7	5	248	1	0	1	1	0	0	0	0	0	14925	855	30	0	756	0	SOLH	16	597592	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	265296	597592	89757161	1271	123278											
PIGQ	9091	broad.mit.edu	37	chr16	624377	624377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgtgccgggagagaggCggcacgttctggagctgcga	19	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:624377C>T	uc002cho.2	+	2	405	c.303C>T	c.(301-303)GGC>GGT	p.G101G	PIGQ_uc010bqw.2_Silent_p.G101G|PIGQ_uc002chm.2_Silent_p.G101G|PIGQ_uc002chn.2_Silent_p.G101G|PIGQ_uc010uui.1_Silent_p.G115G	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	101					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)	1		Hepatocellular(780;0.00335)				GGGAGAGAGGCGGCACGTTCT	0.697													T	624377	C	T	624377	2	4	248	1	0	0	0	0	0	0	0	1	11896	755	27	1		1	PIGQ	16	624377	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	26785	624377	89730376	1272	123279											
PIGQ	9091	broad.mit.edu	37	chr16	628448	628448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgggctcaagatgaacCgtgcactggaccaggtgctg	14	13	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:628448C>T	uc002cho.2	+	5	1114	c.1012C>T	c.(1012-1014)CGT>TGT	p.R338C	PIGQ_uc010bqw.2_Missense_Mutation_p.R338C|PIGQ_uc002chn.2_Missense_Mutation_p.R338C|PIGQ_uc010uui.1_Missense_Mutation_p.R352C	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	338	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)	1		Hepatocellular(780;0.00335)				CAAGATGAACCGTGCACTGGA	0.677													T	628448	C	T	628448	3	4	248	1	0	0	0	0	1	0	0	0	11896	652	23	1	1026	1	PIGQ	16	628448	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4071	628448	89726305	1273	123280											
WFIKKN1	117166	broad.mit.edu	37	chr16	682937	682937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccggagaccactgcccGccccacacctggggccgcgc	13	21	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:682937G>A	uc002cht.1	+	2	769	c.527G>A	c.(526-528)CGC>CAC	p.R176H	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	176						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				ACCACTGCCCGCCCCACACCT	0.751													A	682937	G	A	682937	3	1	248	1	0	0	0	0	1	0	0	0	17355	1087	38	1	533	1	WFIKKN1	16	682937	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	54489	682937	89671816	1274	123281											
PRR25	388199	broad.mit.edu	37	chr16	857486	857486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagggcccctcgccgccGcctcctgccgcctcccgata	10	23	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:857486G>A	uc010uut.1	+	2	483	c.483G>A	c.(481-483)CCG>CCA	p.P161P		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	161	Pro-rich.									large_intestine(1)	1						CCTCGCCGCCGCCTCCTGCCG	0.791													A	857486	G	A	857486	2	1	248	1	0	0	0	0	0	0	0	1	12597	1074	38	1		1	PRR25	16	857486	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	174549	857486	89497267	1275	123282											
CACNA1H	8912	broad.mit.edu	37	chr16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgcgccatcaaccgcGtgcctagtaagtgaccggcc	10	18	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1246017G>A	uc002cks.2	+	5	885	c.637G>A	c.(637-639)GTG>ATG	p.V213M	CACNA1H_uc002ckt.2_Missense_Mutation_p.V213M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	213	Cytoplasmic (Potential).|I.				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCAACCGCGTGCCTAGTAA	0.652													A	1246017	G	A	1246017	3	1	248	1	0	0	0	0	1	0	0	0	2545	1145	40	1	651	1	CACNA1H	16	1246017	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	388531	1246017	89108736	1276	123283											
CACNA1H	8912	broad.mit.edu	37	chr16	1270477	1270477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcccgctctgggtgcgcGcagaaagaagaagatgagcc	15	11	1	5			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1270477G>A	uc002cks.2	+	35	6793	c.6545G>A	c.(6544-6546)CGC>CAC	p.R2182H	CACNA1H_uc002ckt.2_Missense_Mutation_p.R2176H|CACNA1H_uc002cku.2_Missense_Mutation_p.R877H|CACNA1H_uc010brj.2_Missense_Mutation_p.R893H|CACNA1H_uc002ckv.2_Missense_Mutation_p.R871H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2182	Cytoplasmic (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGGGTGCGCGCAGAAAGAAG	0.741													A	1270477	G	A	1270477	3	1	248	1	0	0	0	0	1	0	0	0	2545	1087	38	1	6679	1	CACNA1H	16	1270477	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	24460	1270477	89084276	1277	123284											
PTX4	390667	broad.mit.edu	37	chr16	1537733	1537733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctctcgcccagggtgAggtccaaggcccgcagccgc	14	17	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1537733A>C	uc010uvf.1	-	2	365	c.365T>G	c.(364-366)CTC>CGC	p.L122R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	127						extracellular region	metal ion binding				0						GCCCAGGGTGAGGTCCAAGGC	0.706													C	1537733	A	C	1537733	3	2	248	1	0	0	0	0	1	0	0	0	12823	304	11	5	1063	5	PTX4	16	1537733	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	267256	1537733	88817020	1278	123285											
CRAMP1L	57585	broad.mit.edu	37	chr16	1719026	1719026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtccctctttctccagCaaaactgaatggcagtgaca	9	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1719026C>T	uc010uvh.1	+	18	3359	c.3359C>T	c.(3358-3360)GCA>GTA	p.A1120V	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	1120	Ser-rich.					nucleus	DNA binding				0						CTTTCTCCAGCAAAACTGAAT	0.592													T	1719026	C	T	1719026	3	4	248	1	0	0	0	0	1	0	0	0	3846	710	25	2	3429	2	CRAMP1L	16	1719026	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	181293	1719026	88635727	1279	123286											
HS3ST6	64711	broad.mit.edu	37	chr16	1962127	1962127	+	Frame_Shift_Del	DEL	G	G	-													ggacatggcgtggatgcggcGgggggcctctcgcgtcacga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1962126_1962126CG>C	uc002cnf.3	-	1	401	c.401_401CG>G	c.(400-402)cgcfs	p.R134fs	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	134								p.R134S(1)		endometrium(2)|lung(2)	4						GTGGATGCGGCGGGGGGCCTC	0.662													-	1962127	G	-	1962127	7	5	248	1	0	1	0	1	0	0	0	0	7369	1116	39	0	539	0	HS3ST6	16	1962127	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	243101	1962127	88392626	1280	123287											
ZNF598	90850	broad.mit.edu	37	chr16	2048830	2048830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggggactaggtacgccCgtggggcaggcagcagcctg	17	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2048830C>T	uc002cof.1	-	13	2249	c.2234G>A	c.(2233-2235)CGG>CAG	p.R745Q	ZNF598_uc002coe.1_Missense_Mutation_p.R109Q	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	745						intracellular	zinc ion binding			lung(1)|breast(1)	2						TAGGTACGCCCGTGGGGCAGG	0.627													T	2048830	C	T	2048830	3	4	248	1	0	0	0	0	1	0	0	0	18025	652	23	1	488	1	ZNF598	16	2048830	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	86703	2048830	88305923	1281	123288											
TRAF7	84231	broad.mit.edu	37	chr16	2226308	2226308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacgcagaccctgctgCgtcaccagggcagtgtcacc	11	16	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2226308C>T	uc002cow.2	+	20	2020	c.1921C>T	c.(1921-1923)CGT>TGT	p.R641C		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	641	WD 7.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GACCCTGCTGCGTCACCAGGG	0.657													T	2226308	C	T	2226308	3	4	248	1	0	0	0	0	1	0	0	0	16443	768	27	1	1995	1	TRAF7	16	2226308	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	177478	2226308	88128445	1282	123289											
DCI	1632	broad.mit.edu	37	chr16	2290126	2290126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttcgcatcatggcctTggtcagctgtcgagcatggt	13	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2290126T>C	uc002cpr.2	-	7	799	c.763A>G	c.(763-765)AAG>GAG	p.K255E	DCI_uc002cps.2_Missense_Mutation_p.K238E	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	255					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						ATCATGGCCTTGGTCAGCTGT	0.522													C	2290126	T	C	2290126	3	2	248	1	0	0	0	0	1	0	0	0	4289	1821	63	3	149	3	DCI	16	2290126	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	63818	2290126	88064627	1283	123290											
C16orf59	80178	broad.mit.edu	37	chr16	2514178	2514178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagctgcagaccctggCggccctcaagctgcgagtgg	15	14	1	1	rs11639943		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2514178C>T	uc002cqh.2	+	9	1134	c.1103C>T	c.(1102-1104)GCG>GTG	p.A368V	C16orf59_uc002cqf.1_Missense_Mutation_p.A368V|C16orf59_uc002cqg.1_Missense_Mutation_p.A201V|C16orf59_uc002cqi.2_Missense_Mutation_p.A201V|C16orf59_uc010uwb.1_Missense_Mutation_p.R163W	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	hypothetical protein LOC80178	368											0		Ovarian(90;0.17)				CAGACCCTGGCGGCCCTCAAG	0.657													T	2514178	C	T	2514178	3	4	248	1	0	0	0	0	1	0	0	0	1823	768	27	1	1137	1	C16orf59	16	2514178	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	224052	2514178	87840575	1284	123291											
AMDHD2	51005	broad.mit.edu	37	chr16	2580384	2580384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccttggccctggcacaCacccatgtggcaaacacggg	11	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2580384C>T	uc010uwc.1	+	11	1506	c.1409C>T	c.(1408-1410)ACA>ATA	p.T470I	AMDHD2_uc010uwd.1_Missense_Mutation_p.T234I|CEMP1_uc002cqr.2_Missense_Mutation_p.V231M	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 2	Error:Variant_position_missing_in_Q9Y303_after_alignment					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						CCCTGGCACACACCCATGTGG	0.632													T	2580384	C	T	2580384	3	4	248	1	0	0	0	0	1	0	0	0	568	478	17	4	1489	4	AMDHD2	16	2580384	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	66206	2580384	87774369	1285	123292											
SRRM2	23524	broad.mit.edu	37	chr16	2811955	2811955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggataaatcacattctcatAccccctcccgtaggatgggg	10	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2811955A>G	uc002crk.2	+	11	1975	c.1426A>G	c.(1426-1428)ACC>GCC	p.T476A	SRRM2_uc002crj.1_Missense_Mutation_p.T380A|SRRM2_uc002crl.1_Missense_Mutation_p.T476A|SRRM2_uc010bsu.1_Missense_Mutation_p.T380A	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	476	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ACATTCTCATACCCCCTCCCG	0.567													G	2811955	A	G	2811955	3	3	248	1	0	0	0	0	1	0	0	0	15168	391	14	3	1464	3	SRRM2	16	2811955	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	231571	2811955	87542798	1286	123293											
PRSS22	64063	broad.mit.edu	37	chr16	2905667	2905667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcagatgggcaggaccCgctctgagaactgtatggag	16	8	1	2	rs146443197		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2905667C>T	uc002cry.1	-	4	533	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	PRSS22_uc002crz.1_Intron	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	156	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						GGGCAGGACCCGCTCTGAGAA	0.607													T	2905667	C	T	2905667	3	4	248	1	0	0	0	0	1	0	0	0	12619	652	23	1	498	1	PRSS22	16	2905667	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	93712	2905667	87449086	1287	123294											
KREMEN2	79412	broad.mit.edu	37	chr16	3016647	3016647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgtgctcccagctggCgggcgtggaggccggttacg	17	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3016647C>T	uc002csg.2	+	5	796	c.491C>T	c.(490-492)GCG>GTG	p.A164V	KREMEN2_uc010bsw.1_Missense_Mutation_p.A164V|KREMEN2_uc002csh.2_Missense_Mutation_p.A164V|KREMEN2_uc010uwl.1_Intron|KREMEN2_uc010bsx.2_Intron|KREMEN2_uc002csi.2_Missense_Mutation_p.A164V|PAQR4_uc002csj.3_5'Flank|PAQR4_uc002csk.3_5'Flank|PAQR4_uc002csl.3_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	kringle-containing transmembrane protein 2	164	Extracellular (Potential).|WSC.			Missing (in Ref. 2; BAC11365).	Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)	2						TCCCAGCTGGCGGGCGTGGAG	0.453													T	3016647	C	T	3016647	3	4	248	1	0	0	0	0	1	0	0	0	8443	768	27	1	509	1	KREMEN2	16	3016647	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	110980	3016647	87338106	1288	123295											
CCDC64B	146439	broad.mit.edu	37	chr16	3079314	3079316	+	In_Frame_Del	DEL	CTC	CTC	-													ttggccacttccacctccttCtcctccagtatctccgctgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3079314_3079316delCTC	uc002ctf.3	-	6	1117_1119	c.1072_1074delGAG	c.(1072-1074)GAGdel	p.E358del	CCDC64B_uc002cte.3_In_Frame_Del_p.E151del	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	358	Potential.										0						CCACCTCCTTCTCCTCCAGTATC	0.596													-	3079316	CTC	-	3079314	7	5	248	1	0	1	0	1	0	0	0	0	2836	912	32	0	468	0	CCDC64B	16	3079314	In_Frame_Del	DEL	CTC	TCGA-FP-A4BE-01A-12D-A24D-08	62667	3079314	87275439	1289	123296											
CLUAP1	23059	broad.mit.edu	37	chr16	3576427	3576427	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaggaagctaaaaacactCtctgcctgatacagaacaag	7	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3576427C>A	uc002cvk.1	+	9	976	c.871C>A	c.(871-873)CTC>ATC	p.L291I	CLUAP1_uc002cvj.1_Missense_Mutation_p.L291I|CLUAP1_uc002cvl.1_Missense_Mutation_p.L291I|CLUAP1_uc002cvm.1_Missense_Mutation_p.L125I	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	291	Potential.					nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TAAAAACACTCTCTGCCTGAT	0.478													A	3576427	C	A	3576427	3	1	248	1	0	0	0	0	1	0	0	0	3569	913	32	5	905	5	CLUAP1	16	3576427	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	497113	3576427	86778326	1290	123297											
NLRC3	197358	broad.mit.edu	37	chr16	3614281	3614281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcactcatccaagccGtccaggatcaggagggccct	11	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3614281G>A	uc010btn.2	-	5	1068	c.657C>T	c.(655-657)GAC>GAT	p.D219D		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	219	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CATCCAAGCCGTCCAGGATCA	0.637													A	3614281	G	A	3614281	2	1	248	1	0	0	0	0	0	0	0	1	10468	1136	40	1		1	NLRC3	16	3614281	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	37854	3614281	86740472	1291	123298											
BTBD12	84464	broad.mit.edu	37	chr16	3639090	3639090	+	Frame_Shift_Del	DEL	C	C	-													ctctggaggcctctgctcttCcccgtcccaaacgtcccaca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3639090delC	uc002cvp.2	-	12	5176	c.4549delG	c.(4549-4551)GAAfs	p.E1517fs		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1517	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTCTGCTCTTCCCCGTCCCAA	0.617								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				-	3639090	C	-	3639090	7	5	248	1	0	1	0	1	0	0	0	0	1540	864	30	0	971	0	BTBD12	16	3639090	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	24809	3639090	86715663	1292	123299											
DNASE1	1773	broad.mit.edu	37	chr16	3706754	3706754	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttctcccggttcacaGgtgggtgctgcctgggccag	15	12	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3706754G>T	uc002cvr.2	+	5	2543	c.436G>T	c.(436-438)GAG>TAG	p.E146*		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	146					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CCGGTTCACAGGTGGGTGCTG	0.627								Direct_reversal_of_damage					T	3706754	G	T	3706754	4	4	248	1	0	0	0	0	0	1	0	0	4660	1014	35	5	450	5	DNASE1	16	3706754	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	67664	3706754	86647999	1293	123300											
CREBBP	1387	broad.mit.edu	37	chr16	3778018	3778018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaggggctggagaccGcacctggttactaagggacg	16	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3778018G>A	uc002cvv.2	-	31	7234	c.7030C>T	c.(7030-7032)CGG>TGG	p.R2344W	CREBBP_uc002cvw.2_Missense_Mutation_p.R2306W	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2344					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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGAGACCGCACCTGGTTA	0.652			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3778018	G	A	3778018	3	1	248	1	0	0	0	0	1	0	0	0	3861	1086	38	1	302	1	CREBBP	16	3778018	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	71264	3778018	86576735	1294	123301											
ADCY9	115	broad.mit.edu	37	chr16	4165251	4165251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccgccgcccactcgccGggggacgcccccggagtccc	13	22	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4165251G>A	uc002cvx.2	-	2	732	c.193C>T	c.(193-195)CGG>TGG	p.R65W		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	65	Cytoplasmic (Potential).				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			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CCCACTCGCCGGGGGACGCCC	0.667													A	4165251	G	A	4165251	3	1	248	1	0	0	0	0	1	0	0	0	301	1115	39	1	3908	1	ADCY9	16	4165251	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	387233	4165251	86189502	1295	123302											
UBN1	29855	broad.mit.edu	37	chr16	4902935	4902935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccatgtcggagccccacaGggtccagttcacctctctcc	9	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4902935G>T	uc002cyb.2	+	2	356	c.17G>T	c.(16-18)AGG>ATG	p.R6M	UBN1_uc010uxw.1_Missense_Mutation_p.R6M|UBN1_uc002cyc.2_Missense_Mutation_p.R6M	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	6	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			skin(2)	2						GAGCCCCACAGGGTCCAGTTC	0.527													T	4902935	G	T	4902935	3	4	248	1	0	0	0	0	1	0	0	0	16889	1000	35	5	19	5	UBN1	16	4902935	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	737684	4902935	85451818	1296	123303											
UBN1	29855	broad.mit.edu	37	chr16	4920893	4920893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggaccggatttgttcGgatgaggaagaagatgaaga	16	4	0	6			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4920893G>A	uc002cyb.2	+	11	1818	c.1479G>A	c.(1477-1479)TCG>TCA	p.S493S	UBN1_uc010uxw.1_Silent_p.S493S|UBN1_uc002cyc.2_Silent_p.S493S	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	493	Potential.				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			skin(2)	2						GGATTTGTTCGGATGAGGAAG	0.532													A	4920893	G	A	4920893	2	1	248	1	0	0	0	0	0	0	0	1	16889	1103	39	1		1	UBN1	16	4920893	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	17958	4920893	85433860	1297	123304											
PPL	5493	broad.mit.edu	37	chr16	4944618	4944618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagccccgcgagatcaggCcctggcgggggcaggctgga	18	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4944618C>T	uc002cyd.1	-	12	1334	c.1244G>A	c.(1243-1245)GGC>GAC	p.G415D		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	415	Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CGAGATCAGGCCCTGGCGGGG	0.677													T	4944618	C	T	4944618	3	4	248	1	0	0	0	0	1	0	0	0	12334	753	26	2	4070	2	PPL	16	4944618	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	23725	4944618	85410135	1298	123305											
USP7	7874	broad.mit.edu	37	chr16	8988640	8988640	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggccccagctgcacaCcttctcaaactccttctcct	6	18	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:8988640C>T	uc002czl.2	-	29	3310	c.3111_splice	c.e29+1	p.K1037_splice	USP7_uc002czj.2_Splice_Site|USP7_uc010uyj.1_Splice_Site_p.K938_splice|USP7_uc002czk.2_Splice_Site_p.K1021_splice	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7						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			ovary(3)	3						CAGCTGCACACCTTCTCAAAC	0.552													T	8988640	C	T	8988640	5	4	248	1	0	0	0	0	0	0	1	0	17085	521	18	4	208	4	USP7	16	8988640	Splice_Site	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4044022	8988640	81366113	1299	123306											
CIITA	4261	broad.mit.edu	37	chr16	11001726	11001726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaggtgcttgcgaggtacCtgaagcggctgcagccgggg	18	9	0	2	rs34082539		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:11001726C>A	uc002dai.3	+	11	2510	c.2377C>A	c.(2377-2379)CTG>ATG	p.L793M	CIITA_uc002daj.3_Missense_Mutation_p.L794M|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L793M|CIITA_uc002dah.2_Missense_Mutation_p.L745M|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	793					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)	1						TGCGAGGTACCTGAAGCGGCT	0.692			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								A	11001726	C	A	11001726	3	1	248	1	0	0	0	0	1	0	0	0	3428	680	24	5	2419	5	CIITA	16	11001726	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2013086	11001726	79353027	1300	123307											
TXNDC11	51061	broad.mit.edu	37	chr16	11773134	11773134	+	Frame_Shift_Del	DEL	G	G	-													aggggagctgccagggagctGgggggtggctgagggctcag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:11773133_11773133TG>T	uc010buu.1	-	12	2938	c.2876_2876CA>A	c.(2875-2877)cagfs	p.Q959fs	TXNDC11_uc002dbg.1_Frame_Shift_Del_p.Q932fs	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	959					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						GCCAGGGAGCTGGGGGGTGGC	0.577													-	11773134	G	-	11773134	7	5	248	1	0	1	0	1	0	0	0	0	16789	1357	47	0	86	0	TXNDC11	16	11773134	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	771408	11773134	78581619	1301	123308											
RUNDC2A	84127	broad.mit.edu	37	chr16	12121270	12121270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcggcagcgatcaagcaGgcagcgggctttgccagcaa	14	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:12121270G>A	uc002dbw.1	+	4	278	c.216G>A	c.(214-216)CAG>CAA	p.Q72Q		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	72	RUN.									ovary(1)	1						CGATCAAGCAGGCAGCGGGCT	0.527			T	CIITA	PMBL|Hodgkin Lymphona|								A	12121270	G	A	12121270	2	1	248	1	0	0	0	0	0	0	0	1	13743	991	35	4		4	RUNDC2A	16	12121270	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	348136	12121270	78233483	1302	123309											
PDXDC1	23042	broad.mit.edu	37	chr16	15129899	15129899	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttttaaaaggtccctgCgaggttcagatgctttgagt	11	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:15129899C>T	uc002dda.3	+	23	2358	c.2134C>T	c.(2134-2136)CGA>TGA	p.R712*	PDXDC1_uc010uzl.1_Nonsense_Mutation_p.R697*|PDXDC1_uc010uzm.1_Nonsense_Mutation_p.R621*|PDXDC1_uc002ddb.3_Nonsense_Mutation_p.R685*|PDXDC1_uc010uzn.1_Nonsense_Mutation_p.R684*|PDXDC1_uc002ddc.2_Intron	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	712					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AAGGTCCCTGCGAGGTTCAGA	0.522													T	15129899	C	T	15129899	4	4	248	1	0	0	0	0	0	1	0	0	11696	760	27	1	2224	1	PDXDC1	16	15129899	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3008629	15129899	75224854	1303	123310											
MYH11	4629	broad.mit.edu	37	chr16	15812206	15812206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggacccggtcgctcatgGcctccatgttgccctgctcc	11	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:15812206G>A	uc002ddy.2	-	37	5368	c.5261C>T	c.(5260-5262)GCC>GTC	p.A1754V	MYH11_uc002ddv.2_Missense_Mutation_p.A1761V|MYH11_uc002ddw.2_Missense_Mutation_p.A1754V|MYH11_uc002ddx.2_Missense_Mutation_p.A1761V|MYH11_uc010bvg.2_Missense_Mutation_p.A1586V|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.A460V	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1754	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTCGCTCATGGCCTCCATGTT	0.577			T	CBFB	AML								A	15812206	G	A	15812206	3	1	248	1	0	0	0	0	1	0	0	0	10031	1203	42	2	712	2	MYH11	16	15812206	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	682307	15812206	74542547	1304	123311											
CP110	9738	broad.mit.edu	37	chr16	19548310	19548310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagtttgttcaagcaaggTttatgtgggcaaaaatacat	12	4	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:19548310T>C	uc002dgl.3	+	4	1566	c.1319T>C	c.(1318-1320)GTT>GCT	p.V440A	CP110_uc002dgk.3_Missense_Mutation_p.V440A			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	440	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						TCAAGCAAGGTTTATGTGGGC	0.338													C	19548310	T	C	19548310	3	2	248	1	0	0	0	0	1	0	0	0	3788	1725	60	3	1329	3	CP110	16	19548310	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3736104	19548310	70806443	1305	123312											
ACSM5	54988	broad.mit.edu	37	chr16	20448594	20448594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttcccttccagctacCggatcgggcctgttgaagtg	11	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:20448594C>T	uc002dhe.2	+	12	1588	c.1441C>T	c.(1441-1443)CGG>TGG	p.R481W		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	481					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						TTCCAGCTACCGGATCGGGCC	0.547													T	20448594	C	T	20448594	3	4	248	1	0	0	0	0	1	0	0	0	187	643	23	1	1483	1	ACSM5	16	20448594	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	900284	20448594	69906159	1306	123313											
ERI2	112479	broad.mit.edu	37	chr16	20811677	20811679	+	In_Frame_Del	DEL	GCT	GCT	-													taaaaacacaggttttaacaGctgctttcttttacactcat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:20811676_20811678AGCT>A	uc010vbb.1	-	5	550_552	c.507_509AGCT>T	c.(505-510)cagctg>caTg	p.169_170QL>H	ERI2_uc002dht.3_In_Frame_Del_p.76_77QL>H|ERI2_uc002dhs.3_In_Frame_Del_p.169_170QL>H|ERI2_uc010bwh.2_In_Frame_Del_p.76_77QL>H|ERI2_uc010vbc.1_Intron|ERI2_uc002dhu.1_In_Frame_Del_p.169_170QL>H	NM_001142725	NP_001136197	A8K979	ERI2_HUMAN	Homo sapiens ERI1 exoribonuclease family member 2 (ERI2), transcript variant 1, mRNA.	169	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	p.K168R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						AGGTTTTAACAGCTGCTTTCTTT	0.36													-	20811679	GCT	-	20811677	7	5	248	1	0	1	0	1	0	0	0	0	5228	962	34	0	1850	0	ERI2	16	20811677	In_Frame_Del	DEL	GCT	TCGA-FP-A4BE-01A-12D-A24D-08	363083	20811677	69543076	1307	123314											
EEF2K	29904	broad.mit.edu	37	chr16	22262606	22262606	+	Frame_Shift_Del	DEL	G	G	-													acagatggaggccaagctctGgggggaggagtataatcggc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:22262605_22262605TG>T	uc002dki.3	+	5	1065	c.580_580TG>T	c.(580-582)tggfs	p.W194fs	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	194	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)		GGCCAAGCTCTGGGGGGAGGA	0.622													-	22262606	G	-	22262606	7	5	248	1	0	1	0	1	0	0	0	0	4930	1357	47	0	599	0	EEF2K	16	22262606	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	1450929	22262606	68092147	1308	123315											
TNRC6A	27327	broad.mit.edu	37	chr16	24835045	24835045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggtcccccaagcagcagcGacccccgaggaattagcagc	13	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:24835045G>A	uc002dmm.2	+	25	5920	c.5806G>A	c.(5806-5808)GAC>AAC	p.D1936N	TNRC6A_uc010bxs.2_Missense_Mutation_p.D1683N|TNRC6A_uc002dmn.2_Missense_Mutation_p.D1634N|TNRC6A_uc002dmo.2_Missense_Mutation_p.D1575N|TNRC6A_uc002dmr.2_Missense_Mutation_p.D135N	NM_014494	NP_055309	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			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AAGCAGCAGCGACCCCCGAGG	0.567													A	24835045	G	A	24835045	3	1	248	1	0	0	0	0	1	0	0	0	16337	1058	37	1	5904	1	TNRC6A	16	24835045	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2572439	24835045	65519708	1309	123316											
XPO6	23214	broad.mit.edu	37	chr16	28145181	28145181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtggagaaggcgtgcGtgggcaggagctccatcact	16	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:28145181G>A	uc002dpa.1	-	11	2018	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	XPO6_uc002dpb.1_Missense_Mutation_p.T492M|XPO6_uc010vcp.1_Missense_Mutation_p.T506M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	506					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GAAGGCGTGCGTGGGCAGGAG	0.582													A	28145181	G	A	28145181	3	1	248	1	0	0	0	0	1	0	0	0	17445	1145	40	1	1916	1	XPO6	16	28145181	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3310136	28145181	62209572	1310	123317											
SH2B1	25970	broad.mit.edu	37	chr16	28877882	28877882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagcgcttttccctgcGttcagtgggtcgctctgtcc	11	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:28877882G>A	uc002dri.2	+	4	906	c.467G>A	c.(466-468)CGT>CAT	p.R156H	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.R156H|SH2B1_uc002drk.2_Missense_Mutation_p.R156H|SH2B1_uc002drl.2_Missense_Mutation_p.R156H|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.R156H|SH2B1_uc002drm.2_Missense_Mutation_p.R156H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	156	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						TTTTCCCTGCGTTCAGTGGGT	0.637													A	28877882	G	A	28877882	3	1	248	1	0	0	0	0	1	0	0	0	14227	1145	40	1	469	1	SH2B1	16	28877882	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	732701	28877882	61476871	1311	123318											
ATP2A1	487	broad.mit.edu	37	chr16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C													acctggacatcatggaccgcINScccccccggagccccaagga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|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	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|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						ATCATGGACCGCCCCCCCCGGA	0.658													C	28913641	-	C	28913640	7	5	248	1	0	1	1	0	0	0	0	0	1136	726	26	0	2523	0	ATP2A1	16	28913640	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	35758	28913640	61441113	1312	123319											
C16orf53	79447	broad.mit.edu	37	chr16	29828529	29828529	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactatgttcacctgtcccAgaccacacatgcccacggaa	6	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:29828529A>G	uc002dug.3	+	2	802	c.483_splice	c.e2-2	p.K161_splice	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein												0						CACCTGTCCCAGACCACACAT	0.587											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	29828529	A	G	29828529	5	3	248	1	0	0	0	0	0	0	1	0	1818	202	7	3	487	3	C16orf53	16	29828529	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	914889	29828529	60526224	1313	123320											
KCTD13	253980	broad.mit.edu	37	chr16	29922431	29922431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggaagagtagccgcccGtggaagcgcagggccagctt	16	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:29922431G>A	uc002duv.2	-	5	812	c.621C>T	c.(619-621)CAC>CAT	p.H207H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	207					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				0						GTAGCCGCCCGTGGAAGCGCA	0.602													A	29922431	G	A	29922431	2	1	248	1	0	0	0	0	0	0	0	1	8100	1136	40	1		1	KCTD13	16	29922431	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	93902	29922431	60432322	1314	123321											
ZNF768	79724	broad.mit.edu	37	chr16	30536461	30536461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtgagtgcgctggtggcGaagcaggtaagagctgtcgg	19	6	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30536461G>A	uc002dyk.3	-	2	1176	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	ZNF768_uc010vex.1_Missense_Mutation_p.R303C|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R303C	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	334	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CGCTGGTGGCGAAGCAGGTAA	0.627													A	30536461	G	A	30536461	3	1	248	1	0	0	0	0	1	0	0	0	18138	1058	37	1	626	1	ZNF768	16	30536461	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	614030	30536461	59818292	1315	123322											
SRCAP	10847	broad.mit.edu	37	chr16	30750563	30750563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccctcacccgcctggccCgccttcggcttgaagcagaa	10	19	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30750563C>T	uc002dze.1	+	34	9587	c.9202C>T	c.(9202-9204)CGC>TGC	p.R3068C	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2863C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3068					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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCGCCTGGCCCGCCTTCGGCT	0.622													T	30750563	C	T	30750563	3	4	248	1	0	0	0	0	1	0	0	0	15134	652	23	1	9328	1	SRCAP	16	30750563	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	214102	30750563	59604190	1316	123323											
ZNF629	23361	broad.mit.edu	37	chr16	30794300	30794300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcaccggtgtggatgCgctggtggcggataagggtg	18	8	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30794300C>T	uc002dzs.1	-	3	1557	c.1349G>A	c.(1348-1350)CGC>CAC	p.R450H		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	450	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GGTGTGGATGCGCTGGTGGCG	0.637													T	30794300	C	T	30794300	3	4	248	1	0	0	0	0	1	0	0	0	18050	768	27	1	1264	1	ZNF629	16	30794300	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	43737	30794300	59560453	1317	123324											
SETD1A	9739	broad.mit.edu	37	chr16	30976237	30976237	+	Frame_Shift_Del	DEL	C	C	-													gccgggccacacgggaggaaCcccctggagccccttttgct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30976237delC	uc002ead.1	+	7	1860	c.1174delC	c.(1174-1176)CCCfs	p.P392fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	392	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			ovary(2)|skin(1)	3						ACGGGAGGAACCCCCTGGAGC	0.587													-	30976237	C	-	30976237	7	5	248	1	0	1	0	1	0	0	0	0	14130	507	18	0	1196	0	SETD1A	16	30976237	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	181937	30976237	59378516	1318	123325											
SETD1A	9739	broad.mit.edu	37	chr16	30977324	30977324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcagctggcccccccGgtggggcctttggggaggcc	16	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30977324G>A	uc002ead.1	+	8	2808	c.2122G>A	c.(2122-2124)GGT>AGT	p.G708S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	708					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			ovary(2)|skin(1)	3						TGGCCCCCCCGGTGGGGCCTT	0.642													A	30977324	G	A	30977324	3	1	248	1	0	0	0	0	1	0	0	0	14130	1116	39	1	2148	1	SETD1A	16	30977324	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1087	30977324	59377429	1319	123326											
ZNF668	79759	broad.mit.edu	37	chr16	31073511	31073511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtagggcttctgtgccgcGtggatgcgctggtggcacgt	18	10	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:31073511G>A	uc010caf.2	-	3	1095	c.738C>T	c.(736-738)CAC>CAT	p.H246H	ZNF668_uc002eao.2_Silent_p.H246H	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	246	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						TCTGTGCCGCGTGGATGCGCT	0.692													A	31073511	G	A	31073511	2	1	248	1	0	0	0	0	0	0	0	1	18072	1136	40	1		1	ZNF668	16	31073511	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	96187	31073511	59281242	1320	123327											
BCKDK	10295	broad.mit.edu	37	chr16	31120841	31120841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctctagccctcagtcCgcctaacgcccaccatgatg	6	19	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:31120841C>T	uc002eaw.3	+	3	521	c.205C>T	c.(205-207)CGC>TGC	p.R69C	BCKDK_uc002eav.3_Missense_Mutation_p.R69C|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.R69C	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	69					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			stomach(1)|breast(1)	2						GCCCTCAGTCCGCCTAACGCC	0.627													T	31120841	C	T	31120841	3	4	248	1	0	0	0	0	1	0	0	0	1361	652	23	1	211	1	BCKDK	16	31120841	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	47330	31120841	59233912	1321	123328											
ITGAM	3684	broad.mit.edu	37	chr16	31336583	31336583	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcttcttcttcccacaGcctggactgcctcgtggtgg	10	15	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:31336583G>A	uc002ebq.2	+	20	2462	c.2364_splice	c.e20-1	p.S788_splice	ITGAM_uc002ebr.2_Splice_Site_p.S789_splice|ITGAM_uc010can.2_Splice_Site_p.S194_splice|ITGAM_uc002ebs.1_Splice_Site_p.S194_splice|ITGAM_uc010vfj.1_RNA	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						TCTTCCCACAGCCTGGACTGC	0.587													A	31336583	G	A	31336583	5	1	248	1	0	0	0	0	0	0	1	0	7887	985	34	2	2444	2	ITGAM	16	31336583	Splice_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	215742	31336583	59018170	1322	123329											
SALL1	6299	broad.mit.edu	37	chr16	51171062	51171062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtcctccacgaagcgGgtgaagcggaagttggttcc	14	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:51171062G>A	uc010vgs.1	-	3	3967	c.3936C>T	c.(3934-3936)ACC>ACT	p.T1312T	SALL1_uc010vgr.1_Silent_p.T1215T|SALL1_uc010cbv.2_Silent_p.T164T	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1312					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACGAAGCGGGTGAAGCGGA	0.567													A	51171062	G	A	51171062	2	1	248	1	0	0	0	0	0	0	0	1	13810	1219	43	4		4	SALL1	16	51171062	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	19834479	51171062	39183691	1323	123330											
MMP2	4313	broad.mit.edu	37	chr16	55517983	55517983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtggatgatgcctttgctCgtgccttccaagtctggagc	12	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:55517983C>T	uc002ehz.3	+	3	747	c.436C>T	c.(436-438)CGT>TGT	p.R146C	MMP2_uc010vhd.1_Missense_Mutation_p.R70C|MMP2_uc010ccc.2_Missense_Mutation_p.R96C	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	146	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		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)	TGCCTTTGCTCGTGCCTTCCA	0.473													T	55517983	C	T	55517983	3	4	248	1	0	0	0	0	1	0	0	0	9658	884	31	1	453	1	MMP2	16	55517983	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4346921	55517983	34836770	1324	123331											
SLC6A2	6530	broad.mit.edu	37	chr16	55690841	55690841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagtggacctggccaacGtgtggcgcttcccctacctc	11	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:55690841G>A	uc002eif.2	+	2	346	c.235G>A	c.(235-237)GTG>ATG	p.V79M	SLC6A2_uc010ccd.2_Missense_Mutation_p.V79M|SLC6A2_uc002eig.2_Missense_Mutation_p.V79M|SLC6A2_uc002eih.2_Missense_Mutation_p.V79M	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	79	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				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)	CCTGGCCAACGTGTGGCGCTT	0.667													A	55690841	G	A	55690841	3	1	248	1	0	0	0	0	1	0	0	0	14683	1145	40	1	237	1	SLC6A2	16	55690841	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	172858	55690841	34663912	1325	123332											
CES7	221223	broad.mit.edu	37	chr16	55903559	55903559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctagccggtactggacgAccacaaccagcacgtcctca	8	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:55903559A>G	uc002eip.2	-	4	664	c.515T>C	c.(514-516)GTC>GCC	p.V172A	CES7_uc002eio.2_Missense_Mutation_p.V172A|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.V66A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	172						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GTACTGGACGACCACAACCAG	0.552													G	55903559	A	G	55903559	3	3	248	1	0	0	0	0	1	0	0	0	3272	275	10	3	1252	3	CES7	16	55903559	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	212718	55903559	34451194	1326	123333											
SLC12A3	6559	broad.mit.edu	37	chr16	56920301	56920301	+	Frame_Shift_Del	DEL	C	C	-													agtgcctggtgctcacggggCcccccaacttccgcccggcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:56920301delC	uc010ccm.2	+	16	1980	c.1951delC	c.(1951-1953)CCCfs	p.P651fs	SLC12A3_uc002ekd.3_Frame_Shift_Del_p.P651fs|SLC12A3_uc010ccn.2_Frame_Shift_Del_p.P650fs	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	651					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCTCACGGGGCCCCCCAACTT	0.667													-	56920301	C	-	56920301	7	5	248	1	0	1	0	1	0	0	0	0	14384	739	26	0	2013	0	SLC12A3	16	56920301	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	1016742	56920301	33434452	1327	123334											
KATNB1	10300	broad.mit.edu	37	chr16	57789829	57789829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatcgtcaaccagaaagCgtaagtggctgcagaggggg	15	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:57789829C>T	uc002eml.1	+	17	2017	c.1643C>T	c.(1642-1644)GCC>GTC	p.A548V		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	548	Interaction with KATNA1 and NDEL1 (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				0		all_neural(199;0.223)				AACCAGAAAGCGTAAGTGGCT	0.617													T	57789829	C	T	57789829	3	4	248	1	0	0	0	0	1	0	0	0	7987	782	27	1	1705	1	KATNB1	16	57789829	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	869528	57789829	32564924	1328	123335											
PRSS54	221191	broad.mit.edu	37	chr16	58327706	58327706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatccccagagagaccCgccgcggacaccatgggcag	12	16	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:58327706C>T	uc002enf.2	-	3	410	c.15G>A	c.(13-15)GCG>GCA	p.A5A	PRSS54_uc002eng.2_Silent_p.A5A|PRSS54_uc010vie.1_5'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	5					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGAGAGACCCGCCGCGGACA	0.547													T	58327706	C	T	58327706	2	4	248	1	0	0	0	0	0	0	0	1	12633	639	23	1		1	PRSS54	16	58327706	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	537877	58327706	32027047	1329	123336											
CDH8	1006	broad.mit.edu	37	chr16	61747860	61747860	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggcgctaacagtttgaatGacctgaaacataaaacttga	8	7	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:61747860G>T	uc002eog.1	-	10	1791	c.1539C>A	c.(1537-1539)GTC>GTA	p.V513V		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	513	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		CAGTTTGAATGACCTGAAACA	0.398													T	61747860	G	T	61747860	2	4	248	1	0	0	0	0	0	0	0	1	3116	1277	45	5		5	CDH8	16	61747860	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3420154	61747860	28606893	1330	123337											
CDH11	1009	broad.mit.edu	37	chr16	65005505	65005505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtctctgactgtgaaaTttggattgtgaatgatttca	11	4	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:65005505T>A	uc002eoi.2	-	11	2053	c.1619A>T	c.(1618-1620)AAT>ATT	p.N540I	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.N540I|CDH11_uc010vin.1_Missense_Mutation_p.N414I	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	540	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GACTGTGAAATTTGGATTGTG	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	65005505	T	A	65005505	3	1	248	1	0	0	0	0	1	0	0	0	3097	1493	52	5	783	5	CDH11	16	65005505	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3257645	65005505	25349248	1331	123338											
C16orf70	80262	broad.mit.edu	37	chr16	67180989	67180990	+	Frame_Shift_Ins	INS	-	-	C													cctcggtgaccctgtatggcINSccccccaggcctggtagcca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:67180988_67180989G>GC	uc002erd.3	+	15	1387_1388	c.1223_1224G>GC	c.(1222-1224)ggcfs	p.G408fs	C16orf70_uc002erc.3_Frame_Shift_Ins_p.G408fs|BC007896_uc002erg.1_5'Flank	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													C	67180990	-	C	67180989	7	5	248	1	0	1	1	0	0	0	0	0	1829	726	26	0	1286	0	C16orf70	16	67180989	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	2175484	67180989	23173764	1332	123339											
LRRC36	55282	broad.mit.edu	37	chr16	67410687	67410687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccttctcagccgaggtGttgctcacatcctgaagaca	10	13	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:67410687G>A	uc002esv.2	+	11	1737	c.1718G>A	c.(1717-1719)TGT>TAT	p.C573Y	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.C452Y|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Missense_Mutation_p.C83Y	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	573											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAGCCGAGGTGTTGCTCACAT	0.532													A	67410687	G	A	67410687	3	1	248	1	0	0	0	0	1	0	0	0	8990	1377	48	4	1788	4	LRRC36	16	67410687	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	229698	67410687	22944066	1333	123340											
HSD11B2	3291	broad.mit.edu	37	chr16	67469997	67469997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaagggcctcctgcccCtgctgcgcagctcaaggggc	13	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:67469997C>T	uc002etd.2	+	3	732	c.616C>T	c.(616-618)CTG>TTG	p.L206L		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	206					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	CCTCCTGCCCCTGCTGCGCAG	0.652													T	67469997	C	T	67469997	2	4	248	1	0	0	0	0	0	0	0	1	7377	680	24	4		4	HSD11B2	16	67469997	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	59310	67469997	22884756	1334	123341											
VPS4A	27183	broad.mit.edu	37	chr16	69352776	69352776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaacgacgtggccgggCtggagggggccaaggaggcc	22	9	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:69352776C>T	uc002eww.2	+	5	522	c.394C>T	c.(394-396)CTG>TTG	p.L132L		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	132					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				0		Ovarian(137;0.101)				CGTGGCCGGGCTGGAGGGGGC	0.488													T	69352776	C	T	69352776	2	4	248	1	0	0	0	0	0	0	0	1	17209	796	28	2		2	VPS4A	16	69352776	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1882779	69352776	21001977	1335	123342											
DDX19A	55308	broad.mit.edu	37	chr16	70404246	70404246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgattgagcgcttccgagagGgcaaagagaaggttttggtg	16	5	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:70404246G>T	uc002eyv.2	+	10	1212	c.1141G>T	c.(1141-1143)GGC>TGC	p.G381C	DDX19B_uc010vly.1_Missense_Mutation_p.G382C|DDX19A_uc002eys.2_Missense_Mutation_p.G382C|DDX19A_uc010cfq.1_Missense_Mutation_p.G136C|DDX19A_uc010cfr.2_Missense_Mutation_p.G231C|DDX19A_uc010cfs.2_Missense_Mutation_p.G204C|DDX19A_uc010vlz.1_Missense_Mutation_p.G350C|DDX19A_uc010vma.1_Missense_Mutation_p.G291C	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	381	Helicase C-terminal.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				CTTCCGAGAGGGCAAAGAGAA	0.617													T	70404246	G	T	70404246	3	4	248	1	0	0	0	0	1	0	0	0	4346	1232	43	5	1179	5	DDX19A	16	70404246	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1051470	70404246	19950507	1336	123343											
FUK	197258	broad.mit.edu	37	chr16	70497629	70497629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaggagccaccctcaaCgccctgctggtggctgctga	14	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:70497629C>T	uc002eyy.2	+	3	244	c.186C>T	c.(184-186)AAC>AAT	p.N62N	FUK_uc010vmb.1_Silent_p.N62N|FUK_uc010cft.2_Silent_p.N62N|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	62						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CCACCCTCAACGCCCTGCTGG	0.657													T	70497629	C	T	70497629	2	4	248	1	0	0	0	0	0	0	0	1	6096	535	19	1		1	FUK	16	70497629	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	93383	70497629	19857124	1337	123344											
ZNF23	7571	broad.mit.edu	37	chr16	71483562	71483562	+	Frame_Shift_Del	DEL	A	A	-													tatgagtttgaactttgactAaaaaaacactcctccacggg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:71483561_71483561TA>T	uc002faf.3	-	5	1181	c.367_367TA>A	c.(367-369)agtfs	p.S123fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.S123fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.S65fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.S65fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.S65fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.S162fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	123					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)		GAACTTTGACTAAAAAAACAC	0.443													-	71483562	A	-	71483562	7	5	248	1	0	1	0	1	0	0	0	0	17780	359	13	0	1569	0	ZNF23	16	71483562	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	985933	71483562	18871191	1338	123345											
MARVELD3	91862	broad.mit.edu	37	chr16	71668305	71668305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaccagctaaagctgcccAtggtcactgtggcaatggcc	10	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:71668305A>G	uc002fat.2	+	3	868	c.805A>G	c.(805-807)ATG>GTG	p.M269V	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	269	MARVEL.|Extracellular (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				AAAGCTGCCCATGGTCACTGT	0.572													G	71668305	A	G	71668305	3	3	248	1	0	0	0	0	1	0	0	0	9319	217	8	3	815	3	MARVELD3	16	71668305	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	184743	71668305	18686448	1339	123346											
RFWD3	55159	broad.mit.edu	37	chr16	74671848	74671848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcggcctgtttccttagcAtctgttccttcagtagggaa	9	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74671848A>G	uc002fda.2	-	7	1198	c.1100T>C	c.(1099-1101)ATG>ACG	p.M367T	RFWD3_uc010cgq.2_Missense_Mutation_p.M367T	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	367	Potential.				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			lung(2)|breast(1)	3						TTTCCTTAGCATCTGTTCCTT	0.507													G	74671848	A	G	74671848	3	3	248	1	0	0	0	0	1	0	0	0	13261	217	8	3	1252	3	RFWD3	16	74671848	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3003543	74671848	15682905	1340	123347											
WDR59	79726	broad.mit.edu	37	chr16	74950079	74950079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgtatcttcagtgtgcaGggtcttctcaggttccggca	11	10	5	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74950079G>T	uc002fdh.1	-	12	1147	c.1045C>A	c.(1045-1047)CTG>ATG	p.L349M	WDR59_uc002fdi.2_Missense_Mutation_p.L349M|WDR59_uc002fdj.2_Missense_Mutation_p.L349M|WDR59_uc002fdg.1_5'Flank	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	349	WD 7.									ovary(1)|breast(1)	2						TCAGTGTGCAGGGTCTTCTCA	0.458													T	74950079	G	T	74950079	3	4	248	1	0	0	0	0	1	0	0	0	17305	991	35	5	1939	5	WDR59	16	74950079	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	278231	74950079	15404674	1341	123348											
WDR59	79726	broad.mit.edu	37	chr16	74976652	74976652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctcttatcccatatcCgcacatcgccgtcatggctg	6	17	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74976652C>A	uc002fdh.1	-	7	620	c.518G>T	c.(517-519)CGG>CTG	p.R173L	WDR59_uc002fdi.2_Missense_Mutation_p.R173L|WDR59_uc002fdj.2_Missense_Mutation_p.R173L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	173	WD 3.									ovary(1)|breast(1)	2						ATCCCATATCCGCACATCGCC	0.473													A	74976652	C	A	74976652	3	1	248	1	0	0	0	0	1	0	0	0	17305	652	23	5	2486	5	WDR59	16	74976652	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	26573	74976652	15378101	1342	123349											
WDR59	79726	broad.mit.edu	37	chr16	74990459	74990459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggcgagagatctttcGgtgaccttcgaaaggggcat	14	9	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74990459G>A	uc002fdh.1	-	3	256	c.154C>T	c.(154-156)CGA>TGA	p.R52*	WDR59_uc002fdi.2_Nonsense_Mutation_p.R52*|WDR59_uc002fdj.2_Nonsense_Mutation_p.R52*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	52										ovary(1)|breast(1)	2						GAGATCTTTCGGTGACCTTCG	0.428													A	74990459	G	A	74990459	4	1	248	1	0	0	0	0	0	1	0	0	17305	1124	39	1	2866	1	WDR59	16	74990459	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	13807	74990459	15364294	1343	123350											
CHST6	4166	broad.mit.edu	37	chr16	75512692	75512692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagcgcacagttcctgCacgcggcggatcttggcaaa	12	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:75512692C>T	uc002fef.2	-	3	1215	c.1035G>A	c.(1033-1035)GTG>GTA	p.V345V	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.V345V	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	345	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						ACAGTTCCTGCACGCGGCGGA	0.657													T	75512692	C	T	75512692	2	4	248	1	0	0	0	0	0	0	0	1	3408	697	25	2		2	CHST6	16	75512692	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	522233	75512692	14842061	1344	123351											
CHST6	4166	broad.mit.edu	37	chr16	75512840	75512840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcctcgagctgtggcGtgagactgagcccagtgaag	15	11	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:75512840G>A	uc002fef.2	-	3	1067	c.887C>T	c.(886-888)ACG>ATG	p.T296M	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.T296M	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	296	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GAGCTGTGGCGTGAGACTGAG	0.642													A	75512840	G	A	75512840	3	1	248	1	0	0	0	0	1	0	0	0	3408	1145	40	1	304	1	CHST6	16	75512840	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	148	75512840	14841913	1345	123352											
ADAT1	23536	broad.mit.edu	37	chr16	75634173	75634173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccaaacacctgcttccGgagtgtgctccaggcttcct	10	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:75634173G>A	uc002feo.1	-	11	1552	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W	ADAT1_uc002fep.1_Missense_Mutation_p.R335W	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	484	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						ACCTGCTTCCGGAGTGTGCTC	0.522													A	75634173	G	A	75634173	3	1	248	1	0	0	0	0	1	0	0	0	284	1115	39	1	62	1	ADAT1	16	75634173	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	121333	75634173	14720580	1346	123353											
VAT1L	57687	broad.mit.edu	37	chr16	77859247	77859247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggatgacatgagcttctcCgaggctgctgcattccccat	10	14	1	2	rs73574882	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:77859247C>T	uc002ffg.1	+	3	565	c.468C>T	c.(466-468)TCC>TCT	p.S156S		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	156							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						TGAGCTTCTCCGAGGCTGCTG	0.532													T	77859247	C	T	77859247	2	4	248	1	0	0	0	0	0	0	0	1	17127	639	23	1		1	VAT1L	16	77859247	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2225074	77859247	12495506	1347	123354											
GAN	8139	broad.mit.edu	37	chr16	81399002	81399002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatggagctgtatgtgtttgGgggagtccgaagtcgtgagg	18	4	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:81399002G>T	uc002fgo.2	+	9	1569	c.1421G>T	c.(1420-1422)GGG>GTG	p.G474V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	474	Kelch 5.		G -> R (in GAN).		cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				TATGTGTTTGGGGGAGTCCGA	0.502													T	81399002	G	T	81399002	3	4	248	1	0	0	0	0	1	0	0	0	6232	1232	43	5	1455	5	GAN	16	81399002	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3539755	81399002	8955751	1348	123355											
CMIP	80790	broad.mit.edu	37	chr16	81730263	81730263	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgatgacggggagctgttCgccagcatggtacgcagtgg	17	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:81730263C>T	uc002fgp.2	+	14	1701	c.1629C>T	c.(1627-1629)TTC>TTT	p.F543F	CMIP_uc002fgq.1_Silent_p.F449F|CMIP_uc010vnq.1_Silent_p.F356F|CMIP_uc002fgr.1_Silent_p.F390F|CMIP_uc010vnr.1_Silent_p.F109F	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	509						cytoplasm|nucleus					0						GGGAGCTGTTCGCCAGCATGG	0.657													T	81730263	C	T	81730263	2	4	248	1	0	0	0	0	0	0	0	1	3578	883	31	1		1	CMIP	16	81730263	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	331261	81730263	8624490	1349	123356											
CDH13	1012	broad.mit.edu	37	chr16	83378554	83378554	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgatcagaatgacaacCgaccgatctttcgggaaggc	11	9	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:83378554C>T	uc002fgx.2	+	6	844	c.724C>T	c.(724-726)CGA>TGA	p.R242*	CDH13_uc010vns.1_Nonsense_Mutation_p.R289*|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Nonsense_Mutation_p.R203*	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	242	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAATGACAACCGACCGATCTT	0.498													T	83378554	C	T	83378554	4	4	248	1	0	0	0	0	0	1	0	0	3099	644	23	1	746	1	CDH13	16	83378554	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1648291	83378554	6976199	1350	123357											
TAF1C	9013	broad.mit.edu	37	chr16	84214972	84214972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccggtgcggtcacccaCggtcagcacccgagggtgcg	14	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:84214972C>T	uc002fhn.2	-	10	1432	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	TAF1C_uc002fhm.2_Missense_Mutation_p.V309M|TAF1C_uc010vnx.1_Missense_Mutation_p.V376M|TAF1C_uc010vny.1_Translation_Start_Site|TAF1C_uc010vnz.1_Missense_Mutation_p.V70M|TAF1C_uc002fho.2_Translation_Start_Site|TAF1C_uc010voa.1_Missense_Mutation_p.V70M|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	402					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			ovary(1)	1						CGGTCACCCACGGTCAGCACC	0.667													T	84214972	C	T	84214972	3	4	248	1	0	0	0	0	1	0	0	0	15518	536	19	1	1425	1	TAF1C	16	84214972	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	836418	84214972	6139781	1351	123358											
COX4I1	1327	broad.mit.edu	37	chr16	85839440	85839440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttcatcggtttcaccGcgctcgttatcatgtggcag	10	11	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:85839440G>A	uc002fje.2	+	4	507	c.343G>A	c.(343-345)GCG>ACG	p.A115T	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.A115T|COX4I1_uc010vom.1_Missense_Mutation_p.A82T	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	115					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CGGTTTCACCGCGCTCGTTAT	0.567													A	85839440	G	A	85839440	3	1	248	1	0	0	0	0	1	0	0	0	3769	1087	38	1	353	1	COX4I1	16	85839440	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1624468	85839440	4515313	1352	123359											
ZC3H18	124245	broad.mit.edu	37	chr16	88643735	88643735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagataatcactccgaCgaggaggaccgggcaagtga	15	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:88643735C>T	uc002fky.2	+	2	404	c.204C>T	c.(202-204)GAC>GAT	p.D68D	ZC3H18_uc010voy.1_Silent_p.D68D|ZC3H18_uc010voz.1_Silent_p.D68D|ZC3H18_uc010vpa.1_Silent_p.D68D	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	68						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATCACTCCGACGAGGAGGACC	0.632													T	88643735	C	T	88643735	2	4	248	1	0	0	0	0	0	0	0	1	17565	535	19	1		1	ZC3H18	16	88643735	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2804295	88643735	1711018	1353	123360											
ZC3H18	124245	broad.mit.edu	37	chr16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-													cctcgacaccccagcaggcaCcccccgggcagccccagcag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						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)		CCCAGCAGGCACCCCCCGGGC	0.607													-	88694459	C	-	88694459	7	5	248	1	0	1	0	1	0	0	0	0	17565	507	18	0	2455	0	ZC3H18	16	88694459	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	50724	88694459	1660294	1354	123361											
CDT1	81620	broad.mit.edu	37	chr16	88874603	88874603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgcatccgcaccgacaccTacgtcaagctggacaaggcc	9	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:88874603T>C	uc002flu.2	+	10	1612	c.1558T>C	c.(1558-1560)TAC>CAC	p.Y520H		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	520					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CACCGACACCTACGTCAAGCT	0.672													C	88874603	T	C	88874603	3	2	248	1	0	0	0	0	1	0	0	0	3180	1522	53	3	1596	3	CDT1	16	88874603	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	180144	88874603	1480150	1355	123362											
ANKRD11	29123	broad.mit.edu	37	chr16	89348966	89348966	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcttgtcgtctccaggTggctccgtgaaagagacctc	12	13	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:89348966T>C	uc002fmx.1	-	9	4445	c.3984A>G	c.(3982-3984)CCA>CCG	p.P1328P	ANKRD11_uc002fmy.1_Silent_p.P1328P|ANKRD11_uc002fnc.1_Silent_p.P1328P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1285P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1328	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		CGTCTCCAGGTGGCTCCGTGA	0.587													C	89348966	T	C	89348966	2	2	248	1	0	0	0	0	0	0	0	1	639	1683	59	3		3	ANKRD11	16	89348966	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	474363	89348966	1005787	1356	123363											
DEF8	54849	broad.mit.edu	37	chr16	90023996	90023996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgattctggagctgccCgagcagtcggagaagcagaa	15	9	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:90023996C>T	uc002fpn.1	+	5	572	c.483C>T	c.(481-483)CCC>CCT	p.P161P	DEF8_uc002fpl.2_Silent_p.P100P|DEF8_uc002fpm.2_Silent_p.P100P|DEF8_uc002fpo.1_Silent_p.P100P|DEF8_uc002fpp.1_Silent_p.P90P|DEF8_uc010vpq.1_Silent_p.P40P|DEF8_uc010vpr.1_Silent_p.P100P	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	161					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		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)		TGGAGCTGCCCGAGCAGTCGG	0.682													T	90023996	C	T	90023996	2	4	248	1	0	0	0	0	0	0	0	1	4387	639	23	1		1	DEF8	16	90023996	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	675030	90023996	330757	1357	123364											
SCARF1	8578	broad.mit.edu	37	chr17	1538254	1538254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccataggccctgtggccCcaggaagcccagcttttggg	13	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:1538254C>A	uc002fsz.1	-	11	2341	c.2291G>T	c.(2290-2292)GGG>GTG	p.G764V	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.G678V	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	764	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGTGGCCCCAGGAAGCCC	0.667													A	1538254	C	A	1538254	3	1	248	1	0	0	0	0	1	0	0	0	13883	623	22	5	205	5	SCARF1	17	1538254	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08		1538254	79656956	1358	123365											
SCARF1	8578	broad.mit.edu	37	chr17	1538678	1538678	+	Frame_Shift_Del	DEL	C	C	-													gccctcaggacccgactgcgCcccccgggagagcctcttgg					rs34681910		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:1538677_1538677GC>G	uc002fsz.1	-	10	1918	c.1868_1868GC>C	c.(1867-1869)gcgfs	p.A623fs	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Frame_Shift_Del_p.A537fs	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	623	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)		ACCCGACTGCGCCCCCCGGGA	0.667													-	1538678	C	-	1538678	7	5	248	1	0	1	0	1	0	0	0	0	13883	739	26	0	629	0	SCARF1	17	1538678	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	424	1538678	79656532	1359	123366											
SCARF1	8578	broad.mit.edu	37	chr17	1538786	1538786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaaggagaccgatggccGcttggcccgagctaggctgg	17	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:1538786G>A	uc002fsz.1	-	11	1809	c.1759C>T	c.(1759-1761)CGG>TGG	p.R587W	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R501W	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	587	Pro/Ser-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCGATGGCCGCTTGGCCCGA	0.667													A	1538786	G	A	1538786	3	1	248	1	0	0	0	0	1	0	0	0	13883	1086	38	1	737	1	SCARF1	17	1538786	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	108	1538786	79656424	1360	123367											
SMG6	23293	broad.mit.edu	37	chr17	2203202	2203202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccttggtcctatcctgtCggcggcggcgacatccatta	10	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:2203202C>T	uc002fub.1	-	2	900	c.845G>A	c.(844-846)CGA>CAA	p.R282Q	SMG6_uc002fud.1_Missense_Mutation_p.R251Q	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	282	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			central_nervous_system(2)|lung(1)|kidney(1)	4						CCTATCCTGTCGGCGGCGGCG	0.562													T	2203202	C	T	2203202	3	4	248	1	0	0	0	0	1	0	0	0	14797	884	31	1	3486	1	SMG6	17	2203202	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	664416	2203202	78992008	1361	123368											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-													tattatgttttctgtagactAaaaaaagtggtaaacctggg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:2579802delA	uc002fuw.3	+	9	1472	c.904delA	c.(904-906)AAAfs	p.K302fs	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	302	WD 5.|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			skin(1)	1						TCTGTAGACTAAAAAAAGTGG	0.358													-	2579802	A	-	2579802	7	5	248	1	0	1	0	1	0	0	0	0	11384	363	13	0	934	0	PAFAH1B1	17	2579802	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	376600	2579802	78615408	1362	123369											
OR1E2	8388	broad.mit.edu	37	chr17	3336411	3336411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagaaggccttgcagataCccttagaagaagggaccttg	12	8	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:3336411C>T	uc010vre.1	-	1	725	c.725G>A	c.(724-726)GGT>GAT	p.G242D		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	242	Cytoplasmic (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						CTTGCAGATACCCTTAGAAGA	0.478													T	3336411	C	T	3336411	3	4	248	1	0	0	0	0	1	0	0	0	10955	507	18	4	249	4	OR1E2	17	3336411	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	756609	3336411	77858799	1363	123370											
P2RX5	5026	broad.mit.edu	37	chr17	3593950	3593950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcgctgtccttggagcAcgcgccatcaggaatgcctt	12	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:3593950A>G	uc002fwi.2	-	4	669	c.385T>C	c.(385-387)TGC>CGC	p.C129R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.C129R|P2RX5_uc010vrx.1_Missense_Mutation_p.C69R|P2RX5_uc002fwj.2_Missense_Mutation_p.C105R|P2RX5_uc002fwk.2_Missense_Mutation_p.C129R|P2RX5_uc002fwl.2_Missense_Mutation_p.C105R|P2RX5_uc002fwm.1_Missense_Mutation_p.C129R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	129	Extracellular (Potential).				nervous system development|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				0						TCCTTGGAGCACGCGCCATCA	0.642													G	3593950	A	G	3593950	3	3	248	1	0	0	0	0	1	0	0	0	11343	159	6	3	923	3	P2RX5	17	3593950	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	257539	3593950	77601260	1364	123371											
C17orf85	55421	broad.mit.edu	37	chr17	3725318	3725318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtaatactgacttctTctggctgctccaagttcctt	6	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:3725318T>G	uc010ckl.1	-	8	848	c.825A>C	c.(823-825)AGA>AGC	p.R275S	C17orf85_uc002fwr.2_5'UTR|C17orf85_uc002fwq.2_5'UTR	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	275							nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ACTGACTTCTTCTGGCTGCTC	0.328													G	3725318	T	G	3725318	3	3	248	1	0	0	0	0	1	0	0	0	1888	1780	62	5	1061	5	C17orf85	17	3725318	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	131368	3725318	77469892	1365	123372											
SPNS3	201305	broad.mit.edu	37	chr17	4391154	4391154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagagacaaggcctaCtttcgggcgctggcgcctct	13	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:4391154C>T	uc002fxt.2	+	12	1548	c.1504C>T	c.(1504-1506)CTT>TTT	p.L502F	SPNS3_uc002fxu.2_Missense_Mutation_p.L375F|SPNS3_uc002fxv.2_Missense_Mutation_p.L153F|uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	502					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						ACAAGGCCTACTTTCGGGCGC	0.627													T	4391154	C	T	4391154	3	4	248	1	0	0	0	0	1	0	0	0	15075	565	20	4	1550	4	SPNS3	17	4391154	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	665836	4391154	76804056	1366	123373											
PELP1	27043	broad.mit.edu	37	chr17	4575196	4575196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctccctgggaggggagCgcttcaggggccagggtggg	19	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:4575196C>T	uc002fyi.3	-	16	3316	c.3090G>A	c.(3088-3090)GCG>GCA	p.A1030A	PELP1_uc010vsf.1_Intron	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1030	Glu-rich.|Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GGGAGGGGAGCGCTTCAGGGG	0.672													T	4575196	C	T	4575196	2	4	248	1	0	0	0	0	0	0	0	1	11725	755	27	1		1	PELP1	17	4575196	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	184042	4575196	76620014	1367	123374											
ARRB2	409	broad.mit.edu	37	chr17	4621918	4621918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccacagtgagacagtacGccgacatctgcctcttcagc	8	16	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:4621918G>A	uc002fyj.2	+	10	946	c.718G>A	c.(718-720)GCC>ACC	p.A240T	ARRB2_uc002fyk.2_Missense_Mutation_p.A225T|ARRB2_uc002fyl.2_Missense_Mutation_p.A240T|ARRB2_uc010vsg.1_Missense_Mutation_p.A261T|ARRB2_uc002fym.2_Missense_Mutation_p.A225T|ARRB2_uc002fyn.2_Missense_Mutation_p.A48T|ARRB2_uc010ckq.2_Missense_Mutation_p.A48T|ARRB2_uc002fyo.2_Missense_Mutation_p.A48T	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	240	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				0						GAGACAGTACGCCGACATCTG	0.607													A	4621918	G	A	4621918	3	1	248	1	0	0	0	0	1	0	0	0	981	1087	38	1	756	1	ARRB2	17	4621918	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	46722	4621918	76573292	1368	123375											
WSCD1	23302	broad.mit.edu	37	chr17	6013000	6013000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccggttcaacctgcgggAtgccatggacagctcagtat	11	14	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:6013000A>G	uc010cli.2	+	6	1302	c.923A>G	c.(922-924)GAT>GGT	p.D308G	WSCD1_uc002gcn.2_Missense_Mutation_p.D308G|WSCD1_uc002gco.2_Missense_Mutation_p.D308G|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	308	WSC 2.					integral to membrane	sulfotransferase activity				0						AACCTGCGGGATGCCATGGAC	0.577													G	6013000	A	G	6013000	3	3	248	1	0	0	0	0	1	0	0	0	17403	333	12	3	941	3	WSCD1	17	6013000	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1391082	6013000	75182210	1369	123376											
DVL2	1856	broad.mit.edu	37	chr17	7129221	7129221	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactcgctgggattgcccAtggccatgtggaagctttgg	14	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7129221A>G	uc002gez.1	-	15	2456	c.2174T>C	c.(2173-2175)ATG>ACG	p.M725T	uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank|DVL2_uc010vtr.1_Missense_Mutation_p.M719T	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	725					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						GGGATTGCCCATGGCCATGTG	0.647													G	7129221	A	G	7129221	3	3	248	1	0	0	0	0	1	0	0	0	4836	217	8	3	40	3	DVL2	17	7129221	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1116221	7129221	74065989	1370	123377											
C17orf74	201243	broad.mit.edu	37	chr17	7329675	7329675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagtagcagtcttcttcGctgtgttcgtcgccgccgcc	10	15	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7329675G>A	uc002ggw.2	+	3	438	c.365G>A	c.(364-366)CGC>CAC	p.R122H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	122	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				AGTCTTCTTCGCTGTGTTcgt	0.428													A	7329675	G	A	7329675	3	1	248	1	0	0	0	0	1	0	0	0	1879	1087	38	1	375	1	C17orf74	17	7329675	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	200454	7329675	73865535	1371	123378											
POLR2A	5430	broad.mit.edu	37	chr17	7399840	7399840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtctacgacctttgcAagggcaaaaacatatgcgag	9	10	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7399840A>G	uc002ghf.3	+	4	679	c.445A>G	c.(445-447)AAG>GAG	p.K149E	POLR2A_uc002ghe.2_Missense_Mutation_p.K149E	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	149					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			pancreas(1)	1		Prostate(122;0.173)				CGACCTTTGCAAGGGCAAAAA	0.532													G	7399840	A	G	7399840	3	3	248	1	0	0	0	0	1	0	0	0	12214	131	5	3	459	3	POLR2A	17	7399840	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	70165	7399840	73795370	1372	123379											
POLR2A	5430	broad.mit.edu	37	chr17	7416809	7416809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacttccccaagttactcAcccaccagcccgaactattc	3	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7416809A>G	uc002ghf.3	+	29	5460	c.5226A>G	c.(5224-5226)TCA>TCG	p.S1742S		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1742	22.|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			pancreas(1)	1		Prostate(122;0.173)				caagttactcacccaccagcc	0.224													G	7416809	A	G	7416809	2	3	248	1	0	0	0	0	0	0	0	1	12214	146	6	3		3	POLR2A	17	7416809	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	16969	7416809	73778401	1373	123380											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577121	G	A	7577121	3	1	248	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	160312	7577121	73618089	1374	123381											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	21	10	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7578457C>T	uc002gim.2	-	5	667	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(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.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578457	C	T	7578457	3	4	248	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1336	7578457	73616753	1375	123382											
GUCY2D	3000	broad.mit.edu	37	chr17	7907207	7907207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcggtgctgctgggtggCgaggagcagcgctacctcct	15	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7907207C>T	uc002gjt.2	+	3	833	c.759C>T	c.(757-759)GGC>GGT	p.G253G		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	253	Extracellular (Potential).				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			skin(1)	1		Prostate(122;0.157)				TGCTGGGTGGCGAGGAGCAGC	0.682													T	7907207	C	T	7907207	2	4	248	1	0	0	0	0	0	0	0	1	6897	755	27	1		1	GUCY2D	17	7907207	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	328750	7907207	73288003	1376	123383											
C17orf59	54785	broad.mit.edu	37	chr17	8092761	8092761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggggcagaaggcgggGgtggaggcgcgccgctcaga	22	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:8092761G>A	uc010vut.1	-	1	804	c.698C>T	c.(697-699)CCC>CTC	p.P233L		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	233	Pro-rich.										0						AGAAGGCGGGGGTGGAGGCGC	0.692													A	8092761	G	A	8092761	3	1	248	1	0	0	0	0	1	0	0	0	1867	1232	43	4	379	4	C17orf59	17	8092761	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	185554	8092761	73102449	1377	123384											
PFAS	5198	broad.mit.edu	37	chr17	8168254	8168254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggcccagcagcagtgCgtggggcccctgcaaactcc	14	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:8168254C>T	uc002gkr.2	+	18	2232	c.2091C>T	c.(2089-2091)TGC>TGT	p.C697C	PFAS_uc010vuv.1_Silent_p.C273C|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	697					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCAGCAGTGCGTGGGGCCCC	0.637													T	8168254	C	T	8168254	2	4	248	1	0	0	0	0	0	0	0	1	11754	776	27	1		1	PFAS	17	8168254	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	75493	8168254	73026956	1378	123385											
MYH4	4622	broad.mit.edu	37	chr17	10354694	10354694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaactcatttattaagcGttgttgctcttcttcctttg	6	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10354694G>A	uc002gmn.2	-	28	3925	c.3814C>T	c.(3814-3816)CGC>TGC	p.R1272C	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1272	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TTTATTAAGCGTTGTTGCTCT	0.433													A	10354694	G	A	10354694	3	1	248	1	0	0	0	0	1	0	0	0	10037	1145	40	1	2057	1	MYH4	17	10354694	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2186440	10354694	70840516	1379	123386											
MYH2	4620	broad.mit.edu	37	chr17	10429051	10429051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcaagggcggcacaggCggcatttgtcctctccacat	11	12	2	0	rs142908651	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10429051C>T	uc010coi.2	-	31	4458	c.4330G>A	c.(4330-4332)GCC>ACC	p.A1444T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1444T|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1444	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCGGCACAGGCGGCATTTGTC	0.493													T	10429051	C	T	10429051	3	4	248	1	0	0	0	0	1	0	0	0	10035	768	27	1	1535	1	MYH2	17	10429051	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	74357	10429051	70766159	1380	123387											
MYH2	4620	broad.mit.edu	37	chr17	10430071	10430071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagcaggtcacagtcGtggcgggaagactgcagggc	16	12	1	1	rs1042074		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10430071G>A	uc010coi.2	-	30	4160	c.4032C>T	c.(4030-4032)CAC>CAT	p.H1344H	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.H1344H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1344	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GGTCACAGTCGTGGCGGGAAG	0.522													A	10430071	G	A	10430071	2	1	248	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10430071	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1020	10430071	70765139	1381	123388											
C17orf48	56985	broad.mit.edu	37	chr17	10608783	10608783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagtcttctccaaaataCgagcagtgtatgaagatatt	8	7	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10608783C>T	uc002gmt.2	+	2	615	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.Y180Y	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	180							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						CTCCAAAATACGAGCAGTGTA	0.383													T	10608783	C	T	10608783	2	4	248	1	0	0	0	0	0	0	0	1	1859	547	19	1		1	C17orf48	17	10608783	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	178712	10608783	70586427	1382	123389											
DNAH9	1770	broad.mit.edu	37	chr17	11757608	11757608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctatgcggctgcaggcctcTgctcctgggtcatcaatatt	10	13	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:11757608T>C	uc002gne.2	+	50	9864	c.9796T>C	c.(9796-9798)TGC>CGC	p.C3266R	DNAH9_uc010coo.2_Missense_Mutation_p.C2560R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3266	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TGCAGGCCTCTGCTCCTGGGT	0.537													C	11757608	T	C	11757608	3	2	248	1	0	0	0	0	1	0	0	0	4608	1580	55	3	9994	3	DNAH9	17	11757608	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1148825	11757608	69437602	1383	123390											
FAM18B2	201158	broad.mit.edu	37	chr17	15406410	15406410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaaagaattaatgtctAcctgatgaaacttcctcgag	8	8	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:15406410A>G	uc002goq.2	-	6	782	c.599T>C	c.(598-600)GTA>GCA	p.V200A	CDRT4_uc010vvw.1_Splice_Site_p.Q156_splice|FAM18B2_uc010vvx.1_Intron	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	hypothetical protein LOC201158 isoform 1	200						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		ATTAATGTCTACCTGATGAAA	0.328													G	15406410	A	G	15406410	3	3	248	1	0	0	0	0	1	0	0	0	5520	391	14	3	235	3	FAM18B2	17	15406410	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3648802	15406410	65788800	1384	123391											
PIGL	9487	broad.mit.edu	37	chr17	16221134	16221134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatgtgctgcgcaagtAcatctcccttctggatctgc	10	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:16221134A>G	uc002gpv.2	+	6	604	c.572A>G	c.(571-573)TAC>TGC	p.Y191C		NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	191	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		CTGCGCAAGTACATCTCCCTT	0.532													G	16221134	A	G	16221134	3	3	248	1	0	0	0	0	1	0	0	0	11891	391	14	3	594	3	PIGL	17	16221134	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	814724	16221134	64974076	1385	123392											
ULK2	9706	broad.mit.edu	37	chr17	19746443	19746443	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcagcctacctgaaaaggTggttttccaactaggcattg	10	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:19746443T>C	uc002gwm.3	-	8	1145	c.636A>G	c.(634-636)CCA>CCG	p.P212P	ULK2_uc002gwn.2_Silent_p.P212P	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	212	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCTGAAAAGGTGGTTTTCCAA	0.388													C	19746443	T	C	19746443	2	2	248	1	0	0	0	0	0	0	0	1	16973	1683	59	3		3	ULK2	17	19746443	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3525309	19746443	61448767	1386	123393											
VTN	7448	broad.mit.edu	37	chr17	26696773	26696773	+	Frame_Shift_Del	DEL	C	C	-													ggtcagaggtcagggaggggCcccccacctgttcatggaca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:26696773delC	uc002hbc.2	-	3	433	c.284delG	c.(283-285)GGCfs	p.G95fs	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	95					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CAGGGAGGGGCCCCCCACCTG	0.592													-	26696773	C	-	26696773	7	5	248	1	0	1	0	1	0	0	0	0	17234	739	26	0	1176	0	VTN	17	26696773	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	6950330	26696773	54498437	1387	123394											
SUPT6H	6830	broad.mit.edu	37	chr17	27028130	27028130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttccagctcccggcaaCggcagcagcagccaaagtaa	9	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27028130C>T	uc002hby.2	+	36	5068	c.4978C>T	c.(4978-4980)CGG>TGG	p.R1660W	SUPT6H_uc010crt.2_Missense_Mutation_p.R1660W	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1660					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CTCCCGGCAACGGCAGCAGCA	0.632													T	27028130	C	T	27028130	3	4	248	1	0	0	0	0	1	0	0	0	15397	527	19	1	5116	1	SUPT6H	17	27028130	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	331357	27028130	54167080	1388	123395											
RAB34	83871	broad.mit.edu	37	chr17	27043058	27043058	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacaggtcccccaccacaatGaccttggagatcttaaatct	7	13	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27043058G>T	uc002hce.2	-	3	789	c.165C>A	c.(163-165)GTC>GTA	p.V55V	RAB34_uc002hcg.2_Silent_p.V55V|RAB34_uc002hcf.2_Silent_p.V56V|RAB34_uc010was.1_Silent_p.V112V|RAB34_uc010wat.1_Silent_p.V112V|RAB34_uc002hch.2_Silent_p.V55V|RAB34_uc010wau.1_Intron|RAB34_uc010wav.1_Silent_p.V113V	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	55				V -> I (in Ref. 3; BAC11141).	protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CCACCACAATGACCTTGGAGA	0.582													T	27043058	G	T	27043058	2	4	248	1	0	0	0	0	0	0	0	1	12924	1277	45	5		5	RAB34	17	27043058	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	14928	27043058	54152152	1389	123396											
TRAF4	9618	broad.mit.edu	37	chr17	27071213	27071213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggaagcccatgcgcgagcCtgtgcaggtttccacctgcg	14	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27071213C>A	uc002hcs.2	+	1	191	c.83C>A	c.(82-84)CCT>CAT	p.P28H	TRAF4_uc002hcq.1_Missense_Mutation_p.P28H	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	28	RING-type.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ATGCGCGAGCCTGTGCAGGTT	0.617													A	27071213	C	A	27071213	3	1	248	1	0	0	0	0	1	0	0	0	16440	681	24	5	85	5	TRAF4	17	27071213	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	28155	27071213	54123997	1390	123397											
ANKRD13B	124930	broad.mit.edu	37	chr17	27935104	27935104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcggctggcgggcatcccCgtgctcctggagaagctgcg	16	13	0	1	rs141666210		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27935104C>T	uc002hei.2	+	3	464	c.351C>T	c.(349-351)CCC>CCT	p.P117P	ANKRD13B_uc002heh.2_Intron|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	117											0						CGGGCATCCCCGTGCTCCTGG	0.662													T	27935104	C	T	27935104	2	4	248	1	0	0	0	0	0	0	0	1	642	639	23	1		1	ANKRD13B	17	27935104	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	863891	27935104	53260106	1391	123398											
SLC6A4	6532	broad.mit.edu	37	chr17	28537665	28537665	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccctccaagcctgcaaaCtgagaggtacaggcaagcag	10	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:28537665C>T	uc002hey.3	-	11	1862	c.1318_splice	c.e11-1	p.F440_splice	SLC6A4_uc010csg.2_Splice_Site	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4						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			skin(3)|ovary(1)	4					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)	AGCCTGCAAACTGAGAGGTAC	0.607													T	28537665	C	T	28537665	5	4	248	1	0	0	0	0	0	0	1	0	14686	579	20	4	595	4	SLC6A4	17	28537665	Splice_Site	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	602561	28537665	52657545	1392	123399											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29855737	29855737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcctcctctggcctaggcGagttcaatgccagggcccgc	13	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:29855737G>A	uc002hgn.1	+	13	1823	c.1594G>A	c.(1594-1596)GAG>AAG	p.E532K	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.E430K	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	532	Potential.|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			skin(1)	1		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)				TGGCCTAGGCGAGTTCAATGC	0.657													A	29855737	G	A	29855737	3	1	248	1	0	0	0	0	1	0	0	0	12896	1059	37	1	1644	1	RAB11FIP4	17	29855737	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1318072	29855737	51339473	1393	123400											
C17orf75	64149	broad.mit.edu	37	chr17	30660531	30660531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaatcctcacaaaaccGgttacttcctataaaacatt	2	13	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:30660531G>A	uc002hhg.2	-	9	911	c.880C>T	c.(880-882)CGG>TGG	p.R294W		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	294					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCACAAAACCGGTTACTTCCT	0.264													A	30660531	G	A	30660531	3	1	248	1	0	0	0	0	1	0	0	0	1880	1115	39	1	318	1	C17orf75	17	30660531	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	804794	30660531	50534679	1394	123401											
PSMD11	5717	broad.mit.edu	37	chr17	30781528	30781528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagagcttggaggactccTgaagtatgtacgacccttct	10	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:30781528T>C	uc010cta.1	+	3	249	c.209T>C	c.(208-210)CTG>CCG	p.L70P	PSMD11_uc010wbz.1_Missense_Mutation_p.L70P|PSMD11_uc002hhm.2_Missense_Mutation_p.L70P	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	70					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			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGACTCCTGAAGTATGTA	0.428													C	30781528	T	C	30781528	3	2	248	1	0	0	0	0	1	0	0	0	12694	1580	55	3	219	3	PSMD11	17	30781528	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	120997	30781528	50413682	1395	123402											
AP2B1	163	broad.mit.edu	37	chr17	33954503	33954503	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacatcatgattcgtttggcAtctcaagccaacattgctca	7	11	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:33954503A>C	uc002hjr.2	+	8	1227	c.1038A>C	c.(1036-1038)GCA>GCC	p.A346A	AP2B1_uc002hjq.2_Silent_p.A346A|AP2B1_uc010wci.1_Silent_p.A308A|AP2B1_uc002hjs.2_Silent_p.A289A|AP2B1_uc002hjt.2_Silent_p.A346A|AP2B1_uc010ctv.2_Silent_p.A346A|AP2B1_uc010wcj.1_Silent_p.A83A	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	346					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			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCGTTTGGCATCTCAAGCCA	0.403													C	33954503	A	C	33954503	2	2	248	1	0	0	0	0	0	0	0	1	741	204	8	5		5	AP2B1	17	33954503	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3172975	33954503	47240707	1396	123403											
MLLT6	4302	broad.mit.edu	37	chr17	36872835	36872835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacctccagctcaggcCgggcccgggcgccctcccct	10	23	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:36872835C>T	uc002hqi.3	+	10	1265	c.1252C>T	c.(1252-1254)CGG>TGG	p.R418W	MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	418					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CAGCTCAGGCCGGGCCCGGGC	0.662			T	MLL	AL								T	36872835	C	T	36872835	3	4	248	1	0	0	0	0	1	0	0	0	9630	643	23	1	1290	1	MLLT6	17	36872835	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2918332	36872835	44322375	1397	123404											
MLLT6	4302	broad.mit.edu	37	chr17	36876066	36876066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaccctgtgggggcggCcagttagacccggcggcccc	15	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:36876066C>T	uc002hqi.3	+	14	2086	c.2073C>T	c.(2071-2073)GGC>GGT	p.G691G	MLLT6_uc002hqj.2_Silent_p.G126G|MLLT6_uc002hqk.3_Silent_p.G22G	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	691					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GTGGGGGCGGCCAGTTAGACC	0.687			T	MLL	AL								T	36876066	C	T	36876066	2	4	248	1	0	0	0	0	0	0	0	1	9630	726	26	2		2	MLLT6	17	36876066	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3231	36876066	44319144	1398	123405											
CDK12	51755	broad.mit.edu	37	chr17	37665993	37665993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagattttggacttgctcGgctctataactctgaagaga	10	8	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:37665993G>A	uc010cvv.2	+	7	3231	c.2645G>A	c.(2644-2646)CGG>CAG	p.R882Q	CDK12_uc010wef.1_Missense_Mutation_p.R881Q|CDK12_uc002hrw.3_Missense_Mutation_p.R882Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	882	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	p.R882L(1)		ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GGACTTGCTCGGCTCTATAAC	0.289										TCGA Ovarian(9;0.13)			A	37665993	G	A	37665993	3	1	248	1	0	0	0	0	1	0	0	0	3128	1116	39	1	2671	1	CDK12	17	37665993	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	789927	37665993	43529217	1399	123406											
THRA	7067	broad.mit.edu	37	chr17	38244504	38244504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctccacagctgccttgcGaagaccagatcatcctcctg	8	17	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:38244504G>A	uc002htw.2	+	8	1216	c.733G>A	c.(733-735)GAA>AAA	p.E245K	THRA_uc010cwp.1_Missense_Mutation_p.E245K|THRA_uc002htv.2_Missense_Mutation_p.E245K|THRA_uc002htx.2_Missense_Mutation_p.E245K	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	245	Ligand-binding.				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				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTGCCTTGCGAAGACCAGAT	0.647													A	38244504	G	A	38244504	3	1	248	1	0	0	0	0	1	0	0	0	15870	1059	37	1	759	1	THRA	17	38244504	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	578511	38244504	42950706	1400	123407											
THRA	7067	broad.mit.edu	37	chr17	38244663	38244663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggcgtagtctccgacGccatctttgaactgggcaag	13	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:38244663G>A	uc002htw.2	+	8	1375	c.892G>A	c.(892-894)GCC>ACC	p.A298T	THRA_uc010cwp.1_Missense_Mutation_p.A298T|THRA_uc002htv.2_Missense_Mutation_p.A298T|THRA_uc002htx.2_Missense_Mutation_p.A298T	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	298	Ligand-binding.				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				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTCTCCGACGCCATCTTTGA	0.587													A	38244663	G	A	38244663	3	1	248	1	0	0	0	0	1	0	0	0	15870	1087	38	1	918	1	THRA	17	38244663	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	159	38244663	42950547	1401	123408											
KRT23	25984	broad.mit.edu	37	chr17	39084602	39084602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactggctgcctcctgggacAtggctgcagactgtgggacc	15	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:39084602A>G	uc002hvm.1	-	6	1398	c.809T>C	c.(808-810)ATG>ACG	p.M270T	KRT23_uc010wfl.1_Missense_Mutation_p.M133T|KRT23_uc010cxf.1_Missense_Mutation_p.M57T|KRT23_uc010cxg.2_Missense_Mutation_p.M270T	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	270	Rod.|Coil 2.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CTCCTGGGACATGGCTGCAGA	0.537													G	39084602	A	G	39084602	3	3	248	1	0	0	0	0	1	0	0	0	8460	217	8	3	475	3	KRT23	17	39084602	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	839939	39084602	42110608	1402	123409											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383272	39383272	+	Frame_Shift_Del	DEL	C	C	-													tgcagaagaacctgctactaCcccacgactgtctgcctgcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:39383271_39383271AC>A	uc002hwf.3	+	0	372	c.365_365AC>A	c.(364-366)tacfs	p.Y122fs		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	Homo sapiens keratin associated protein 9-2 (KRTAP9-2), mRNA.	122	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCTGCTACTACCCCACGACT	0.627													-	39383272	C	-	39383272	7	5	248	1	0	1	0	1	0	0	0	0	8573	518	18	0	368	0	KRTAP9-2	17	39383272	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	298670	39383272	41811938	1403	123410											
KRTAP17-1	83902	broad.mit.edu	37	chr17	39471892	39471892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaagcagtcccccgggCagcaccccatggtccgggcc	14	16	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:39471892C>T	uc002hwj.2	-	1	56	c.11G>A	c.(10-12)TGC>TAC	p.C4Y		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	4						intermediate filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCCCCCGGGCAGCACCCCAT	0.537													T	39471892	C	T	39471892	3	4	248	1	0	0	0	0	1	0	0	0	8527	710	25	2	310	2	KRTAP17-1	17	39471892	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	88620	39471892	41723318	1404	123411											
STAT3	6774	broad.mit.edu	37	chr17	40474440	40474440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatcttatagcccatgAtgatttcagcaaatgacatg	7	9	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:40474440A>G	uc002hzl.1	-	21	2201	c.1961T>C	c.(1960-1962)ATC>ACC	p.I654T	STAT3_uc002hzk.1_Missense_Mutation_p.I654T|STAT3_uc002hzm.1_Missense_Mutation_p.I654T|STAT3_uc010wgh.1_Missense_Mutation_p.I556T|STAT3_uc002hzn.1_Missense_Mutation_p.I654T	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	654	SH2.				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			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATAGCCCATGATGATTTCAGC	0.463									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				G	40474440	A	G	40474440	3	3	248	1	0	0	0	0	1	0	0	0	15265	333	12	3	367	3	STAT3	17	40474440	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1002548	40474440	40720770	1405	123412											
ATP6V0A1	535	broad.mit.edu	37	chr17	40642658	40642658	+	Splice_Site	DEL	A	A	-													accgagagataaatccaggtAaaaaaaagcttgttatcttt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:40642657_40642657TA>T	uc002hzs.3	+	11	1362	c.1195_splice	c.e11+2	p.A399_splice	ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	392					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|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)		TAAATCCAGGTAAAAAAAAGC	0.388													-	40642658	A	-	40642658	8	5	248	1	0	1	0	1	0	0	1	0	1168	377	13	0		0	ATP6V0A1	17	40642658	Splice_Site	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	168218	40642658	40552552	1406	123413											
PSMC3IP	29893	broad.mit.edu	37	chr17	40725023	40725023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgttgtaatcttcatccGtctctatcccaacttcctcc	4	15	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:40725023G>A	uc002iai.2	-	8	660	c.617C>T	c.(616-618)ACG>ATG	p.T206M	MLX_uc002iaf.2_3'UTR|MLX_uc002iag.2_3'UTR|MLX_uc002iah.2_3'UTR|PSMC3IP_uc002iaj.2_Missense_Mutation_p.T143M|PSMC3IP_uc002iak.2_Missense_Mutation_p.T194M|PSMC3IP_uc010wgn.1_Missense_Mutation_p.T127M|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	206					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATCTTCATCCGTCTCTATCCC	0.527													A	40725023	G	A	40725023	3	1	248	1	0	0	0	0	1	0	0	0	12688	1145	40	1	40	1	PSMC3IP	17	40725023	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	82365	40725023	40470187	1407	123414											
ATXN7L3	56970	broad.mit.edu	37	chr17	42274612	42274612	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccggcggttggcgattcGgctgctgttccgacccattc	12	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:42274612G>A	uc002iga.2	-	3	431	c.340C>T	c.(340-342)CGA>TGA	p.R114*	ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Nonsense_Mutation_p.R114*	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	114					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				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGGCGATTCGGCTGCTGTTC	0.627													A	42274612	G	A	42274612	4	1	248	1	0	0	0	0	0	1	0	0	1218	1124	39	1	764	1	ATXN7L3	17	42274612	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1549589	42274612	38920598	1408	123415											
EFTUD2	9343	broad.mit.edu	37	chr17	42961083	42961083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagttatccatcagatcCgccaagaaactgaaaggaca	8	10	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:42961083C>T	uc002ihn.2	-	5	621	c.360G>A	c.(358-360)GCG>GCA	p.A120A	EFTUD2_uc010wje.1_Silent_p.A85A|EFTUD2_uc010wjf.1_Silent_p.A120A	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	120						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				CCATCAGATCCGCCAAGAAAC	0.438													T	42961083	C	T	42961083	2	4	248	1	0	0	0	0	0	0	0	1	4961	639	23	1		1	EFTUD2	17	42961083	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	686471	42961083	38234127	1409	123416											
KIF18B	146909	broad.mit.edu	37	chr17	43003848	43003848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgggcgatgcggctgcGgccatgggagactgaggaac	20	9	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:43003848G>A	uc010wji.1	-	15	2496	c.2395C>T	c.(2395-2397)CGC>TGC	p.R799C	KIF18B_uc002iht.2_Missense_Mutation_p.R808C|KIF18B_uc010wjh.1_Missense_Mutation_p.R796C	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				ATGCGGCTGCGGCCATGGGAG	0.612													A	43003848	G	A	43003848	3	1	248	1	0	0	0	0	1	0	0	0	8281	1116	39	1	179	1	KIF18B	17	43003848	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	42765	43003848	38191362	1410	123417											
IMP5	162540	broad.mit.edu	37	chr17	43922639	43922639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggctgctcatcgtgagcCgggtcagtgaccaacagtgc	14	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:43922639C>T	uc010wka.1	+	1	367	c.367C>T	c.(367-369)CGG>TGG	p.R123W	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	123	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		CATCGTGAGCCGGGTCAGTGA	0.642													T	43922639	C	T	43922639	3	4	248	1	0	0	0	0	1	0	0	0	7721	643	23	1	369	1	IMP5	17	43922639	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	918791	43922639	37272571	1411	123418											
MAPT	4137	broad.mit.edu	37	chr17	44061000	44061000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctctccaaagtttccaCagagatcccagcctcagagc	6	15	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:44061000C>T	uc002ijr.3	+	6	1150	c.830C>T	c.(829-831)ACA>ATA	p.T277I	MAPT_uc010dau.2_Missense_Mutation_p.T277I|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	277					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			pancreas(1)	1		Melanoma(429;0.216)				AAAGTTTCCACAGAGATCCCA	0.637													T	44061000	C	T	44061000	3	4	248	1	0	0	0	0	1	0	0	0	9297	478	17	4	848	4	MAPT	17	44061000	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	138361	44061000	37134210	1412	123419											
NPEPPS	9520	broad.mit.edu	37	chr17	45663060	45663060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcaaggaaaatttgcGttagaggtaaatgtacttga	12	4	0	3	rs3968301	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:45663060G>A	uc002ilr.3	+	6	1066	c.843G>A	c.(841-843)GCG>GCA	p.A281A	NPEPPS_uc010wkt.1_Silent_p.A277A|NPEPPS_uc010wku.1_Silent_p.A245A|NPEPPS_uc010dba.1_Silent_p.A126A|NPEPPS_uc010wkv.1_5'Flank	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	281					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0						GAAAATTTGCGTTAGAGGTAA	0.378													A	45663060	G	A	45663060	2	1	248	1	0	0	0	0	0	0	0	1	10575	1132	40	1		1	NPEPPS	17	45663060	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1602060	45663060	35532150	1413	123420											
ATP5G1	516	broad.mit.edu	37	chr17	46973104	46973104	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcttttctgtttgatggtCgccttcctcatcctcttcgc	9	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:46973104C>T	uc002iog.2	+	5	518	c.384C>T	c.(382-384)GTC>GTT	p.V128V	ATP5G1_uc002ioh.2_Silent_p.V128V	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	128	Helical; (Potential).				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	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				0						GTTTGATGGTCGCCTTCCTCA	0.572													T	46973104	C	T	46973104	2	4	248	1	0	0	0	0	0	0	0	1	1153	871	31	1		1	ATP5G1	17	46973104	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1310044	46973104	34222106	1414	123421											
NXPH3	11248	broad.mit.edu	37	chr17	47656007	47656007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctcagaggaccctgagcGtgatgaccacgagggccagc	15	13	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:47656007G>A	uc002ipa.2	+	2	388	c.104G>A	c.(103-105)CGT>CAT	p.R35H	NXPH3_uc010wlw.1_Missense_Mutation_p.R35H	NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3 precursor	35	II.				neuropeptide signaling pathway	extracellular region				pancreas(1)|skin(1)	2	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GACCCTGAGCGTGATGACCAC	0.647													A	47656007	G	A	47656007	3	1	248	1	0	0	0	0	1	0	0	0	10792	1145	40	1	110	1	NXPH3	17	47656007	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	682903	47656007	33539203	1415	123422											
FAM117A	81558	broad.mit.edu	37	chr17	47788784	47788784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtttgaggggcagttacGgaagatgaagcccatgccgg	17	8	0	3	rs144428416		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:47788784G>A	uc002ipk.2	-	8	1264	c.1195C>T	c.(1195-1197)CGT>TGT	p.R399C	FAM117A_uc010wlz.1_Missense_Mutation_p.R127C	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	399										ovary(1)	1						GGGCAGTTACGGAAGATGAAG	0.617													A	47788784	G	A	47788784	3	1	248	1	0	0	0	0	1	0	0	0	5409	1116	39	1	170	1	FAM117A	17	47788784	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	132777	47788784	33406426	1416	123423											
COL1A1	1277	broad.mit.edu	37	chr17	48265471	48265471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacggcggggccacgggCgccaacagggccgacaggac	16	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:48265471C>T	uc002iqm.2	-	44	3373	c.3247G>A	c.(3247-3249)GCC>ACC	p.A1083T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1083	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(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GGGCCACGGGCGCCAACAGGG	0.637			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						T	48265471	C	T	48265471	3	4	248	1	0	0	0	0	1	0	0	0	3677	768	27	1	1179	1	COL1A1	17	48265471	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	476687	48265471	32929739	1417	123424											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	248	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	168496	48433967	32761243	1418	123425											
CACNA1G	8913	broad.mit.edu	37	chr17	48653059	48653059	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgagcccggcagctgCtatgaggagctgctcaagta	12	11	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:48653059C>A	uc002irk.1	+	8	1668	c.1296C>A	c.(1294-1296)TGC>TGA	p.C432*	CACNA1G_uc002iri.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irj.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irl.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irm.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irn.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002iro.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irp.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irq.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irr.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irs.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irt.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irv.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irw.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002iru.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irx.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002iry.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002irz.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isa.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isb.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isc.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isd.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002ise.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isf.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isg.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002ish.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isi.1_Nonsense_Mutation_p.C345*	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	432	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	CCGGCAGCTGCTATGAGGAGC	0.632													A	48653059	C	A	48653059	4	1	248	1	0	0	0	0	0	1	0	0	2544	805	28	5	1326	5	CACNA1G	17	48653059	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	219092	48653059	32542151	1419	123426											
CUEDC1	404093	broad.mit.edu	37	chr17	55962594	55962594	+	Frame_Shift_Del	DEL	G	G	-													cgggctgcgcccctacctccGgggggatgctgtcctccgag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:55962593_55962593CG>C	uc002ivd.1	-	1	1052	c.333_333CG>G	c.(331-333)ccgfs	p.P111fs	CUEDC1_uc002ive.1_Frame_Shift_Del_p.P111fs	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	111	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCCCTACCTCCGGGGGGATGC	0.662													-	55962594	G	-	55962594	7	5	248	1	0	1	0	1	0	0	0	0	4052	1116	39	0	864	0	CUEDC1	17	55962594	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	7309535	55962594	25232616	1420	123427											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	248	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	472567	56435161	24760049	1421	123428											
USP32	84669	broad.mit.edu	37	chr17	58260552	58260552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgatgatgttagcgCtgagtgaggatgggcttttg	17	5	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:58260552C>A	uc002iyo.1	-	31	4383	c.4097G>T	c.(4096-4098)AGC>ATC	p.S1366I	USP32_uc002iyn.1_Missense_Mutation_p.S1036I	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1366					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GATGTTAGCGCTGAGTGAGGA	0.547													A	58260552	C	A	58260552	3	1	248	1	0	0	0	0	1	0	0	0	17060	797	28	5	733	5	USP32	17	58260552	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1825391	58260552	22934658	1422	123429											
USP32	84669	broad.mit.edu	37	chr17	58260568	58260568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgagtgaggatgggcTtttgctcaggagcacgtcct	15	9	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:58260568T>G	uc002iyo.1	-	31	4367	c.4081A>C	c.(4081-4083)AGC>CGC	p.S1361R	USP32_uc002iyn.1_Missense_Mutation_p.S1031R	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1361					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GAGGATGGGCTTTTGCTCAGG	0.572													G	58260568	T	G	58260568	3	3	248	1	0	0	0	0	1	0	0	0	17060	1609	56	5	749	5	USP32	17	58260568	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	16	58260568	22934642	1423	123430											
MRC2	9902	broad.mit.edu	37	chr17	60759668	60759668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacgtcaccaaagaaaCgcagcccccagacctgccaa	7	17	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:60759668C>T	uc002jad.2	+	20	3278	c.2876C>T	c.(2875-2877)ACG>ATG	p.T959M	MRC2_uc002jae.2_Missense_Mutation_p.T30M|MRC2_uc002jaf.2_Translation_Start_Site	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	959	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACCAAAGAAACGCAGCCCCCA	0.627													T	60759668	C	T	60759668	3	4	248	1	0	0	0	0	1	0	0	0	9758	536	19	1	2954	1	MRC2	17	60759668	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2499100	60759668	20435542	1424	123431											
MRC2	9902	broad.mit.edu	37	chr17	60765721	60765721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagttctcctgtgaacaGcaagaggcccagctggtcac	11	13	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:60765721G>A	uc002jad.2	+	21	3420	c.3018G>A	c.(3016-3018)CAG>CAA	p.Q1006Q	MRC2_uc002jae.2_Silent_p.Q77Q|MRC2_uc002jaf.2_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1006	Extracellular (Potential).|C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCTGTGAACAGCAAGAGGCCC	0.592													A	60765721	G	A	60765721	2	1	248	1	0	0	0	0	0	0	0	1	9758	962	34	2		2	MRC2	17	60765721	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6053	60765721	20429489	1425	123432											
TANC2	26115	broad.mit.edu	37	chr17	61498413	61498413	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccatctgtcagcatggAggattgaccaaagaggatct	13	9	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61498413A>T	uc002jal.3	+	25	5093	c.5070A>T	c.(5068-5070)GGA>GGT	p.G1690G	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.G801G	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1690							binding			ovary(2)	2						GTCAGCATGGAGGATTGACCA	0.567													T	61498413	A	T	61498413	2	4	248	1	0	0	0	0	0	0	0	1	15542	291	11	5		5	TANC2	17	61498413	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	732692	61498413	19696797	1426	123433											
ACE	1636	broad.mit.edu	37	chr17	61568704	61568704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgggaggtggtctgccaCgcctcggcctgggacttcta	17	12	2	0	rs148024347	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61568704C>T	uc002jau.1	+	19	2896	c.2874C>T	c.(2872-2874)CAC>CAT	p.H958H	ACE_uc002jav.1_Silent_p.H384H|ACE_uc010ddv.1_Silent_p.H185H|ACE_uc010wpj.1_Silent_p.H384H|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Silent_p.H204H	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	958	Extracellular (Potential).|Peptidase M2 2.				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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	TGGTCTGCCACGCCTCGGCCT	0.607													T	61568704	C	T	61568704	2	4	248	1	0	0	0	0	0	0	0	1	136	535	19	1		1	ACE	17	61568704	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	70291	61568704	19626506	1427	123434											
STRADA	92335	broad.mit.edu	37	chr17	61788155	61788155	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtggctcgatatggcacGatattgggatggttgaagag	15	4	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61788155G>A	uc002jbm.2	-	7	549	c.390C>T	c.(388-390)ATC>ATT	p.I130I	STRADA_uc002jbn.2_Silent_p.I72I|STRADA_uc002jbo.2_Silent_p.I93I|STRADA_uc002jbp.2_Silent_p.I93I|STRADA_uc002jbq.2_Silent_p.I72I|STRADA_uc010wpq.1_Silent_p.I86I|STRADA_uc010wpr.1_Silent_p.I101I|STRADA_uc010ddw.2_Silent_p.I101I|STRADA_uc002jbr.2_Silent_p.I72I	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	130	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			ovary(1)	1						GATATGGCACGATATTGGGAT	0.488													A	61788155	G	A	61788155	2	1	248	1	0	0	0	0	0	0	0	1	15323	1048	37	1		1	STRADA	17	61788155	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	219451	61788155	19407055	1428	123435											
CSHL1	1444	broad.mit.edu	37	chr17	61988187	61988187	+	Frame_Shift_Del	DEL	A	A	-													gcttggagcatagcctctttAaaaagcctggataagggaac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61988187delA	uc002jda.1	-	2	170	c.108delT	c.(106-108)TTTfs	p.F36fs	CSHL1_uc002jcz.1_Frame_Shift_Del_p.F36fs|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc002jde.2_Frame_Shift_Del_p.F64fs|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Frame_Shift_Del_p.F36fs|CSHL1_uc002jdh.2_Intron	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	36						extracellular region	hormone activity|metal ion binding				0						TAGCCTCTTTAAAAAGCCTGG	0.597													-	61988187	A	-	61988187	7	5	248	1	0	1	0	1	0	0	0	0	3942	359	13	0	576	0	CSHL1	17	61988187	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	200032	61988187	19207023	1429	123436											
GH1	2688	broad.mit.edu	37	chr17	61995389	61995389	+	Silent	SNP	T	T	C													ccactcacggatttctgttgTgtttcctccctgttggaggg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61995389T>C	uc002jdj.2	-	3	341	c.279A>G	c.(277-279)ACA>ACG	p.T93T	GH1_uc002jdi.2_Silent_p.T78T|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.T93T	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	93					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				0						ATTTCTGTTGTGTTTCCTCCC	0.567													C	61995389	T	C	61995389	2	2	248	1	0	0	0	0	0	0	0	1	6367	1683	59	3		3	GH1	17	61995389	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	7202	61995389	19199821	1430	123437	643	2									
GH1	2688	broad.mit.edu	37	chr17	61995399	61995399	+	Missense_Mutation	SNP	C	C	A													atttctgttgtgtttcctccCtgttggagggtgtcggaata							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61995399C>A	uc002jdj.2	-	3	331	c.269G>T	c.(268-270)AGG>ATG	p.R90M	GH1_uc002jdi.2_Missense_Mutation_p.R75M|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.R90M	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	90					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				0						TGTTTCCTCCCTGTTGGAGGG	0.557													A	61995399	C	A	61995399	3	1	248	1	0	0	0	0	1	0	0	0	6367	681	24	5	396	5	GH1	17	61995399	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10	61995399	19199811	1431	123438	643	2									
SCN4A	6329	broad.mit.edu	37	chr17	62022785	62022785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttgacattgagccagcGgacctggcctgtgtgcatga	13	11	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:62022785G>A	uc002jds.1	-	19	3732	c.3655C>T	c.(3655-3657)CGC>TGC	p.R1219C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1219	III.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TTGAGCCAGCGGACCTGGCCT	0.582													A	62022785	G	A	62022785	3	1	248	1	0	0	0	0	1	0	0	0	13920	1116	39	1	1879	1	SCN4A	17	62022785	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	27386	62022785	19172425	1432	123439											
SCN4A	6329	broad.mit.edu	37	chr17	62049185	62049185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcttgatgagggactcaaAggtgtagatccctgtgaagg	13	6	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:62049185A>C	uc002jds.1	-	4	585	c.508T>G	c.(508-510)TTT>GTT	p.F170V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	170	Helical; Name=S2 of repeat I; (Potential).|I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AGGGACTCAAAGGTGTAGATC	0.592													C	62049185	A	C	62049185	3	2	248	1	0	0	0	0	1	0	0	0	13920	72	3	5	5086	5	SCN4A	17	62049185	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	26400	62049185	19146025	1433	123440											
CCDC46	201134	broad.mit.edu	37	chr17	64171304	64171304	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttgaaccttttgctcGtgctggatttggttcatcaa	11	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:64171304G>A	uc002jfl.2	-	4	547	c.328C>T	c.(328-330)CGA>TGA	p.R110*	CCDC46_uc002jfm.2_Nonsense_Mutation_p.R110*|CCDC46_uc010dep.2_Nonsense_Mutation_p.R110*	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	110						centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CCTTTTGCTCGTGCTGGATTT	0.358													A	64171304	G	A	64171304	4	1	248	1	0	0	0	0	0	1	0	0	2817	1153	40	1	2801	1	CCDC46	17	64171304	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2122119	64171304	17023906	1434	123441											
AMZ2	51321	broad.mit.edu	37	chr17	66250543	66250543	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtttgtcctttttttgtAggtgtggggatattcagctt	11	5	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:66250543A>G	uc002jgs.1	+	6	704	c.587_splice	c.e6-2	p.G196_splice	AMZ2_uc002jgr.1_Splice_Site_p.G196_splice|AMZ2_uc002jgt.1_Splice_Site_p.G196_splice|AMZ2_uc002jgu.1_Splice_Site_p.G196_splice|AMZ2_uc002jgv.1_Splice_Site_p.G196_splice|AMZ2_uc002jgw.1_Splice_Site_p.G138_splice|AMZ2_uc002jgy.1_Splice_Site_p.G196_splice	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1								metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTTTTTTGTAGGTGTGGGGA	0.433													G	66250543	A	G	66250543	5	3	248	1	0	0	0	0	0	0	1	0	597	434	15	3	599	3	AMZ2	17	66250543	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2079239	66250543	14944667	1435	123442											
ABCA6	23460	broad.mit.edu	37	chr17	67081325	67081326	+	Splice_Site	INS	-	-	A													gcagcctttcagttccacctINSaaaaaaataaaagagcttta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:67081325_67081326insA	uc002jhw.1	-	32	4205	c.4030_splice	c.e32-1	p.V1344_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					CAGTTCCACCTAAAAAAATAAA	0.446													A	67081326	-	A	67081325	8	5	248	1	0	1	1	0	0	0	1	0	36	1536	53	0	857	0	ABCA6	17	67081325	Splice_Site	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	830782	67081325	14113885	1436	123443											
GPR142	350383	broad.mit.edu	37	chr17	72366673	72366673	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctagctggccagccacgAgtgaccctgctgcccacgcc	10	18	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:72366673A>G	uc010wqy.1	+	3	372	c.372A>G	c.(370-372)CGA>CGG	p.R124R	GPR142_uc010wqx.1_Silent_p.R36R	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	124	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCCAGCCACGAGTGACCCTGC	0.642													G	72366673	A	G	72366673	2	3	248	1	0	0	0	0	0	0	0	1	6650	291	11	3		3	GPR142	17	72366673	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	5285348	72366673	8828537	1437	123444											
GPRC5C	55890	broad.mit.edu	37	chr17	72436770	72436770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctggccatcgccctcgcCgccaatgcctgggccttcgt	11	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:72436770C>T	uc002jks.2	+	1	894	c.855C>T	c.(853-855)GCC>GCT	p.A285A	GPRC5C_uc002jkp.2_Silent_p.A330A|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Silent_p.A297A|GPRC5C_uc002jkt.2_Silent_p.A285A|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	285	Helical; Name=7; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						TCGCCCTCGCCGCCAATGCCT	0.602													T	72436770	C	T	72436770	2	4	248	1	0	0	0	0	0	0	0	1	6726	639	23	1		1	GPRC5C	17	72436770	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	70097	72436770	8758440	1438	123445											
KIAA0195	9772	broad.mit.edu	37	chr17	73488759	73488759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgccagcgtcaccgagCgcctgtgccgattctccgac	12	15	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73488759C>T	uc002jnz.3	+	15	2076	c.1801C>T	c.(1801-1803)CGC>TGC	p.R601C	KIAA0195_uc010wsa.1_Missense_Mutation_p.R611C|KIAA0195_uc010wsb.1_Missense_Mutation_p.R241C|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	601					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			CGTCACCGAGCGCCTGTGCCG	0.627													T	73488759	C	T	73488759	3	4	248	1	0	0	0	0	1	0	0	0	8160	768	27	1	1855	1	KIAA0195	17	73488759	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1051989	73488759	7706451	1439	123446											
ITGB4	3691	broad.mit.edu	37	chr17	73736900	73736900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtctacaggcagatctcCggtgtacacaagctccagca	11	12	2	1	rs148787870		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73736900C>T	uc002jpg.2	+	22	2764	c.2577C>T	c.(2575-2577)TCC>TCT	p.S859S	ITGB4_uc002jph.2_Silent_p.S859S|ITGB4_uc010dgo.2_Silent_p.S859S|ITGB4_uc002jpi.3_Silent_p.S859S|ITGB4_uc010dgp.1_Missense_Mutation_p.R872W|ITGB4_uc002jpj.2_Silent_p.S859S	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	859	Cytoplasmic (Potential).				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			lung(4)	4	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)			GGCAGATCTCCGGTGTACACA	0.692													T	73736900	C	T	73736900	2	4	248	1	0	0	0	0	0	0	0	1	7897	639	23	1		1	ITGB4	17	73736900	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	248141	73736900	7458310	1440	123447											
GALK1	2584	broad.mit.edu	37	chr17	73759466	73759466	+	Frame_Shift_Del	DEL	C	C	-													atgctgagctggacaggccaCcccccaggggcactgagctg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73759466delC	uc010wsi.1	-	3	473	c.410delG	c.(409-411)GGTfs	p.G137fs	GALK1_uc002jpk.2_Frame_Shift_Del_p.G137fs|GALK1_uc010wsj.1_Frame_Shift_Del_p.G137fs	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	137	ATP (Potential).				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	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)			GGACAGGCCACCCCCCAGGGG	0.652													-	73759466	C	-	73759466	7	5	248	1	0	1	0	1	0	0	0	0	6203	507	18	0	792	0	GALK1	17	73759466	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	22566	73759466	7435744	1441	123448											
UNK	85451	broad.mit.edu	37	chr17	73814802	73814802	+	Frame_Shift_Del	DEL	C	C	-													cacctccagcctggcagctaCcccccctagcccagtgggca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73814801_73814801AC>A	uc002jpm.3	+	11	1678	c.1678_1678AC>A	c.(1678-1680)accfs	p.T560fs	UNK_uc021udd.1_Frame_Shift_Del_p.T484fs	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	484							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)			CCTGGCAGCTACCCCCCCTAG	0.612													-	73814802	C	-	73814802	7	5	248	1	0	1	0	1	0	0	0	0	16997	507	18	0	1725	0	UNK	17	73814802	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	55336	73814802	7380408	1442	123449											
UNK	85451	broad.mit.edu	37	chr17	73819405	73819405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggccagtgcggcgggCgccgagtgcgagctggcccg	21	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73819405C>T	uc002jpm.2	+	16	2307	c.2307C>T	c.(2305-2307)GGC>GGT	p.G769G		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	693	Potential.						nucleic acid binding|zinc ion binding				0			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)			GTGCGGCGGGCGCCGAGTGCG	0.682													T	73819405	C	T	73819405	2	4	248	1	0	0	0	0	0	0	0	1	16997	755	27	1		1	UNK	17	73819405	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4603	73819405	7375805	1443	123450											
UNK	85451	broad.mit.edu	37	chr17	73820394	73820394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagtgtcaggaacagaagCgggcagtgctgccgtgccaa	14	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73820394C>T	uc002jpm.2	+	17	2557	c.2557C>T	c.(2557-2559)CGG>TGG	p.R853W		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	777	RING-type; degenerate.						nucleic acid binding|zinc ion binding				0			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)			GGAACAGAAGCGGGCAGTGCT	0.642													T	73820394	C	T	73820394	3	4	248	1	0	0	0	0	1	0	0	0	16997	759	27	1	2623	1	UNK	17	73820394	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	989	73820394	7374816	1444	123451											
EVPL	2125	broad.mit.edu	37	chr17	74005777	74005777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcgctcagctccctgGccagcgtcgcgttcttggtc	13	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:74005777G>A	uc002jqi.2	-	22	3737	c.3509C>T	c.(3508-3510)GCC>GTC	p.A1170V	EVPL_uc010wss.1_Missense_Mutation_p.A1192V|EVPL_uc010wst.1_Missense_Mutation_p.A640V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1170	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CAGCTCCCTGGCCAGCGTCGC	0.627													A	74005777	G	A	74005777	3	1	248	1	0	0	0	0	1	0	0	0	5292	1203	42	2	2596	2	EVPL	17	74005777	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	185383	74005777	7189433	1445	123452											
TNRC6C	57690	broad.mit.edu	37	chr17	76071268	76071268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcgtgggctgggagtgaCcgaccataatggaatggccg	16	9	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:76071268C>T	uc002jud.2	+	9	3569	c.2969C>T	c.(2968-2970)ACC>ATC	p.T990I	TNRC6C_uc002juf.2_Missense_Mutation_p.T987I|TNRC6C_uc002jue.2_Missense_Mutation_p.T987I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	990	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGGAGTGACCGACCATAAT	0.547													T	76071268	C	T	76071268	3	4	248	1	0	0	0	0	1	0	0	0	16339	507	18	4	2991	4	TNRC6C	17	76071268	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2065491	76071268	5123942	1446	123453											
TMC6	11322	broad.mit.edu	37	chr17	76122698	76122698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggaaggagtcgtgcaCttcgctttcatcataggggc	13	10	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:76122698C>T	uc002juj.1	-	2	214	c.88G>A	c.(88-90)GTG>ATG	p.V30M	TMC6_uc010dhf.1_Translation_Start_Site|TMC6_uc002juk.2_Missense_Mutation_p.V30M|TMC6_uc010dhg.1_Missense_Mutation_p.V30M|TMC6_uc002jul.1_Missense_Mutation_p.V30M|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Missense_Mutation_p.V30M|TMC6_uc002juo.2_Translation_Start_Site|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Missense_Mutation_p.V30M	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	30	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTCGTGCACTTCGCTTTCA	0.662									Epidermodysplasia_Verruciformis_Familial_Clustering_of				T	76122698	C	T	76122698	3	4	248	1	0	0	0	0	1	0	0	0	15986	565	20	4	2401	4	TMC6	17	76122698	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	51430	76122698	5072512	1447	123454											
CBX2	84733	broad.mit.edu	37	chr17	77758364	77758364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtctccttgcccgccaCgccaccgccaccaagggtgt	12	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:77758364C>T	uc002jxc.2	+	5	1164	c.1122C>T	c.(1120-1122)CAC>CAT	p.H374H		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	374					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				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTGCCCGCCACGCCACCGCCA	0.692													T	77758364	C	T	77758364	2	4	248	1	0	0	0	0	0	0	0	1	2718	535	19	1		1	CBX2	17	77758364	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1635666	77758364	3436846	1448	123455											
GAA	2548	broad.mit.edu	37	chr17	78086452	78086452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccacggccgatacgcCggccactggacgggggacgt	17	14	0	0	rs61736896	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:78086452C>T	uc002jxo.2	+	14	2012	c.1830C>T	c.(1828-1830)GCC>GCT	p.A610A	GAA_uc002jxp.2_Silent_p.A610A|GAA_uc002jxq.2_Silent_p.A610A	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	610			Missing (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGATACGCCGGCCACTGGA	0.687													T	78086452	C	T	78086452	2	4	248	1	0	0	0	0	0	0	0	1	6147	639	23	1		1	GAA	17	78086452	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	328088	78086452	3108758	1449	123456											
CARD14	79092	broad.mit.edu	37	chr17	78172264	78172264	+	Frame_Shift_Del	DEL	G	G	-													gtcaccatgctggcgttccaGggggatgcattgctggagca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:78172263_78172263AG>A	uc002jxw.1	+	12	1918	c.1724_1724AG>A	c.(1723-1725)cagfs	p.Q575fs	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Frame_Shift_Del_p.Q575fs|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Frame_Shift_Del_p.Q338fs	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	575	PDZ.				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)			CTGGCGTTCCAGGGGGATGCA	0.692													-	78172264	G	-	78172264	7	5	248	1	0	1	0	1	0	0	0	0	2646	991	35	0	1771	0	CARD14	17	78172264	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	85812	78172264	3022946	1450	123457											
SGSH	6448	broad.mit.edu	37	chr17	78185909	78185909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctgacttggccccagcGttttgggtgctccggggatg	15	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:78185909G>A	uc002jxz.3	-	7	997	c.910C>T	c.(910-912)CGC>TGC	p.R304C	SGSH_uc002jya.3_Missense_Mutation_p.R101C|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase precursor	304			R -> L.		proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGCCCCAGCGTTTTGGGTGC	0.622													A	78185909	G	A	78185909	3	1	248	1	0	0	0	0	1	0	0	0	14221	1145	40	1	606	1	SGSH	17	78185909	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	13645	78185909	3009301	1451	123458											
AATK	9625	broad.mit.edu	37	chr17	79093370	79093370	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaagtcgtcgtcccacgcGaacccaccacctgcagccca	10	18	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79093370G>A	uc010dia.2	-	13	3974	c.3894C>T	c.(3892-3894)TTC>TTT	p.F1298F	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1298						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGTCCCACGCGAACCCACCAC	0.766													A	79093370	G	A	79093370	2	1	248	1	0	0	0	0	0	0	0	1	26	1049	37	1		1	AATK	17	79093370	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	907461	79093370	2101840	1452	123459											
C17orf56	146705	broad.mit.edu	37	chr17	79203128	79203128	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccggggttgaactcagaGgctgcaggaagacctggctc	15	10	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79203128G>T	uc002jzu.1	-	12	1200	c.1178C>A	c.(1177-1179)CCT>CAT	p.P393H	C17orf56_uc002jzr.1_Missense_Mutation_p.P63H|C17orf56_uc002jzs.1_Missense_Mutation_p.P309H|C17orf56_uc002jzt.1_Missense_Mutation_p.P309H|C17orf56_uc002jzv.1_Missense_Mutation_p.P241H|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	393	Pro-rich.					integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGAACTCAGAGGCTGCAGGAA	0.687													T	79203128	G	T	79203128	3	4	248	1	0	0	0	0	1	0	0	0	1864	1000	35	5	403	5	C17orf56	17	79203128	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	109758	79203128	1992082	1453	123460											
C17orf70	80233	broad.mit.edu	37	chr17	79514613	79514613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtctggggcccgtgccgcTtgacagcagtgcacagctca	15	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79514613T>C	uc002kaq.2	-	5	1550	c.1495A>G	c.(1495-1497)AGC>GGC	p.S499G	C17orf70_uc002kao.1_Missense_Mutation_p.S148G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.S348G	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	499					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCCGTGCCGCTTGACAGCAGT	0.597													C	79514613	T	C	79514613	3	2	248	1	0	0	0	0	1	0	0	0	1877	1609	56	3	1170	3	C17orf70	17	79514613	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	311485	79514613	1680597	1454	123461											
HGS	9146	broad.mit.edu	37	chr17	79668136	79668136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccagcagccctacatcgCggggcagcagcccatgtacc	10	18	0	0	rs147280688		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79668136C>T	uc002kbg.2	+	21	2275	c.2198C>T	c.(2197-2199)GCG>GTG	p.A733V	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	733	Interaction with NF2.|Gln-rich.				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			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCCTACATCGCGGGGCAGCAG	0.622													T	79668136	C	T	79668136	3	4	248	1	0	0	0	0	1	0	0	0	7087	768	27	1	2280	1	HGS	17	79668136	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	153523	79668136	1527074	1455	123462											
SLC25A10	1468	broad.mit.edu	37	chr17	79683871	79683871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctggatggcctgtaccGcgtagctcgtgaaggtgagg	17	9	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79683871G>A	uc002kbi.2	+	6	535	c.449G>A	c.(448-450)CGC>CAC	p.R150H	SLC25A10_uc010wut.1_Missense_Mutation_p.R305H|SLC25A10_uc010dif.2_Missense_Mutation_p.R150H|SLC25A10_uc010wuu.1_Missense_Mutation_p.R104H	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	150	Solcar 2.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GGCCTGTACCGCGTAGCTCGT	0.657													A	79683871	G	A	79683871	3	1	248	1	0	0	0	0	1	0	0	0	14472	1087	38	1	471	1	SLC25A10	17	79683871	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	15735	79683871	1511339	1456	123463											
FN3KRP	79672	broad.mit.edu	37	chr17	80684412	80684412	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcagcgcattcagccCcagatggacatggtggagaa	14	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:80684412C>A	uc002kfu.2	+	5	575	c.525C>A	c.(523-525)CCC>CCA	p.P175P	FN3KRP_uc010wvr.1_Silent_p.P125P	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	175							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCATTCAGCCCCAGATGGACA	0.592													A	80684412	C	A	80684412	2	1	248	1	0	0	0	0	0	0	0	1	5964	610	22	5		5	FN3KRP	17	80684412	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1000541	80684412	510798	1457	123464											
METTL4	64863	broad.mit.edu	37	chr18	2547407	2547407	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaccaagagggataaagttCttcctttataaaacgtaggt	9	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:2547407C>A	uc002klh.3	-	6	1801	c.1021G>T	c.(1021-1023)GAA>TAA	p.E341*	METTL4_uc010dkj.2_Nonsense_Mutation_p.E138*	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	341					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2						GGATAAAGTTCTTCCTTTATA	0.403													A	2547407	C	A	2547407	4	1	248	1	0	0	0	0	0	1	0	0	9502	922	32	5	413	5	METTL4	18	2547407	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08		2547407	75529841	1458	123465											
MYOM1	8736	broad.mit.edu	37	chr18	3155028	3155028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatataatctttgttggcCtccaagcacttcacatccaa	5	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:3155028C>A	uc002klp.2	-	11	1894	c.1560G>T	c.(1558-1560)GAG>GAT	p.E520D	MYOM1_uc002klq.2_Missense_Mutation_p.E520D	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	520	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CTTTGTTGGCCTCCAAGCACT	0.468													A	3155028	C	A	3155028	3	1	248	1	0	0	0	0	1	0	0	0	10091	680	24	5	3609	5	MYOM1	18	3155028	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	607621	3155028	74922220	1459	123466											
TGIF1	7050	broad.mit.edu	37	chr18	3452101	3452101	+	Frame_Shift_Del	DEL	T	T	-													ccgggaatccccagtgctccTtttccacggcttttctggcg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:3452101delT	uc002klz.2	+	1	511	c.124delT	c.(124-126)TTTfs	p.F42fs	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	42					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CCAGTGCTCCTTTTCCACGGC	0.701													-	3452101	T	-	3452101	7	5	248	1	0	1	0	1	0	0	0	0	15822	1609	56	0	208	0	TGIF1	18	3452101	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	297073	3452101	74625147	1460	123467											
DLGAP1	9229	broad.mit.edu	37	chr18	3742432	3742432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaggctgtccaggctcCggttgatggagacttcactc	13	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:3742432C>T	uc002kmf.2	-	3	1320	c.1253G>A	c.(1252-1254)CGG>CAG	p.R418Q	DLGAP1_uc010wyz.1_Missense_Mutation_p.R418Q|DLGAP1_uc002kme.1_Missense_Mutation_p.R116Q|DLGAP1_uc010dkn.2_Missense_Mutation_p.R116Q|DLGAP1_uc010wyw.1_Missense_Mutation_p.R124Q|DLGAP1_uc010wyx.1_Missense_Mutation_p.R130Q|DLGAP1_uc010wyy.1_Missense_Mutation_p.R130Q|DLGAP1_uc002kmg.2_Missense_Mutation_p.R116Q|DLGAP1_uc002kmk.2_Missense_Mutation_p.R418Q	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	418					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GTCCAGGCTCCGGTTGATGGA	0.542													T	3742432	C	T	3742432	3	4	248	1	0	0	0	0	1	0	0	0	4559	652	23	1	1712	1	DLGAP1	18	3742432	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	290331	3742432	74334816	1461	123468											
ARHGAP28	79822	broad.mit.edu	37	chr18	6868234	6868234	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcagaatgcgataagtgGtgagcggcatgcctcctgtt	13	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:6868234G>A	uc010wzi.1	+	5	518	c.280_splice	c.e5+1	p.D94_splice	ARHGAP28_uc002knc.2_Splice_Site_p.D219_splice|ARHGAP28_uc002knd.2_Splice_Site_p.D112_splice|ARHGAP28_uc002kne.2_Splice_Site_p.D112_splice|ARHGAP28_uc002knf.2_Splice_Site_p.D103_splice			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;						signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				GCGATAAGTGGTGAGCGGCAT	0.468													A	6868234	G	A	6868234	5	1	248	1	0	0	0	0	0	0	1	0	877	1275	44	4	349	4	ARHGAP28	18	6868234	Splice_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	3125802	6868234	71209014	1462	123469											
KIAA0802	23255	broad.mit.edu	37	chr18	8825125	8825125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagggtcgacagcatcaCggcggcaggtggtgagggtc	19	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:8825125C>T	uc002knr.2	+	15	3759	c.3617C>T	c.(3616-3618)ACG>ATG	p.T1206M	KIAA0802_uc002knq.2_Missense_Mutation_p.T1165M|KIAA0802_uc002kns.2_Missense_Mutation_p.T546M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1516											0						GACAGCATCACGGCGGCAGGT	0.672													T	8825125	C	T	8825125	3	4	248	1	0	0	0	0	1	0	0	0	8194	536	19	1	3667	1	KIAA0802	18	8825125	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1956891	8825125	69252123	1463	123470											
GNAL	2774	broad.mit.edu	37	chr18	11881066	11881066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggacacagagaacatcCgcagggtgttcaacgactgc	12	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:11881066C>T	uc010dkz.2	+	13	1324	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	GNAL_uc002kqc.2_Missense_Mutation_p.R437C|GNAL_uc002kqd.2_Missense_Mutation_p.R360C|GNAL_uc010wzt.1_Missense_Mutation_p.R153C	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	360					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						AGAGAACATCCGCAGGGTGTT	0.612													T	11881066	C	T	11881066	3	4	248	1	0	0	0	0	1	0	0	0	6507	652	23	1	1504	1	GNAL	18	11881066	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3055941	11881066	66196182	1464	123471											
SPIRE1	56907	broad.mit.edu	37	chr18	12506498	12506498	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacttttcgcaaggtgtatCttttgcagcgaatgtcatcc	8	10	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:12506498C>A	uc002kre.2	-	6	997	c.950G>T	c.(949-951)AGA>ATA	p.R317I	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.R197I|SPIRE1_uc010wzx.1_Missense_Mutation_p.R120I|SPIRE1_uc010wzy.1_Missense_Mutation_p.R317I	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	317	WH2 1.					cytoskeleton|perinuclear region of cytoplasm	actin binding				0						CAAGGTGTATCTTTTGCAGCG	0.303													A	12506498	C	A	12506498	3	1	248	1	0	0	0	0	1	0	0	0	15070	913	32	5	1368	5	SPIRE1	18	12506498	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	625432	12506498	65570750	1465	123472											
C18orf19	125228	broad.mit.edu	37	chr18	13666626	13666626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactccttgacgggtggcggCgtggacatgtagccatgact	14	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:13666626C>T	uc010dlh.2	-	5	1104	c.672G>A	c.(670-672)ACG>ACA	p.T224T	C18orf19_uc010dlg.2_3'UTR|C18orf19_uc010dli.2_Silent_p.T224T|C18orf19_uc002ksj.3_Silent_p.T224T|C18orf19_uc010dlj.2_RNA	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	224	DUF1279.					integral to membrane				breast(2)	2						CGGGTGGCGGCGTGGACATGT	0.468													T	13666626	C	T	13666626	2	4	248	1	0	0	0	0	0	0	0	1	1896	755	27	1		1	C18orf19	18	13666626	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1160128	13666626	64410622	1466	123473											
ROCK1	6093	broad.mit.edu	37	chr18	18619431	18619431	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagaaaaaaaaaaacttActgtctcggagcgtttccca	7	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:18619431A>G	uc002kte.2	-	9	1992	c.1051_splice	c.e9+1	p.T351_splice		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein						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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					AAAAAAACTTACTGTCTCGGA	0.348													G	18619431	A	G	18619431	5	3	248	1	0	0	0	0	0	0	1	0	13517	405	14	3	3111	3	ROCK1	18	18619431	Splice_Site	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	4952805	18619431	59457817	1467	123474											
LAMA3	3909	broad.mit.edu	37	chr18	21402305	21402305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaaccctggaactgaagcAgtatctggccatataactat	8	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:21402305A>G	uc002kuq.2	+	20	2480	c.2394A>G	c.(2392-2394)GCA>GCG	p.A798A	LAMA3_uc002kur.2_Silent_p.A798A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	798	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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	GAACTGAAGCAGTATCTGGCC	0.368													G	21402305	A	G	21402305	2	3	248	1	0	0	0	0	0	0	0	1	8607	175	7	3		3	LAMA3	18	21402305	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2782874	21402305	56674943	1468	123475											
ZNF521	25925	broad.mit.edu	37	chr18	22805769	22805769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaaggtcatccactgAtgtgaattgcttgtcacaac	8	9	3	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:22805769A>G	uc002kvk.2	-	4	2360	c.2113T>C	c.(2113-2115)TCA>CCA	p.S705P	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S705P|ZNF521_uc002kvl.2_Missense_Mutation_p.S485P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	705	C2H2-type 16.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCATCCACTGATGTGAATTGC	0.438			T	PAX5	ALL								G	22805769	A	G	22805769	3	3	248	1	0	0	0	0	1	0	0	0	17962	333	12	3	1842	3	ZNF521	18	22805769	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1403464	22805769	55271479	1469	123476											
FAM59A	64762	broad.mit.edu	37	chr18	29848392	29848392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttgggacaaccagagacGctgctactgaattctgcagt	11	10	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:29848392G>A	uc002kxl.2	-	6	2129	c.2073C>T	c.(2071-2073)AGC>AGT	p.S691S	FAM59A_uc002kxk.1_Silent_p.S690S	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	691										ovary(1)|skin(1)	2						AACCAGAGACGCTGCTACTGA	0.537													A	29848392	G	A	29848392	2	1	248	1	0	0	0	0	0	0	0	1	5592	1078	38	1		1	FAM59A	18	29848392	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7042623	29848392	48228856	1470	123477											
SIGLEC15	284266	broad.mit.edu	37	chr18	43418992	43418992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggtcgccctcctgctcgGcgctctcggcttcaaggcgc	13	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:43418992G>A	uc002lbl.1	+	4	955	c.806G>A	c.(805-807)GGC>GAC	p.G269D	SIGLEC15_uc010xcp.1_RNA	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15 precursor	269	Helical; (Potential).					integral to membrane					0						CTCCTGCTCGGCGCTCTCGGC	0.756													A	43418992	G	A	43418992	3	1	248	1	0	0	0	0	1	0	0	0	14310	1203	42	2	820	2	SIGLEC15	18	43418992	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	13570600	43418992	34658256	1471	123478											
PSTPIP2	9050	broad.mit.edu	37	chr18	43595906	43595906	+	Splice_Site	DEL	A	A	-													agggcccgcttcagggtgctAaaaaaaacaagcacatatat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383													-	43595906	A	-	43595906	8	5	248	1	0	1	0	1	0	0	1	0	12722	377	13	0		0	PSTPIP2	18	43595906	Splice_Site	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	176914	43595906	34481342	1472	123479											
KATNAL2	83473	broad.mit.edu	37	chr18	44601709	44601709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcctggacgagctggagtCggtgatgagtcagagaggca	16	8	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:44601709C>T	uc002lco.2	+	11	1048	c.854C>T	c.(853-855)TCG>TTG	p.S285L	KATNAL2_uc010dnq.1_Missense_Mutation_p.S64L|KATNAL2_uc002lcp.3_Missense_Mutation_p.S212L	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	357						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GAGCTGGAGTCGGTGATGAGT	0.507													T	44601709	C	T	44601709	3	4	248	1	0	0	0	0	1	0	0	0	7986	893	31	1	892	1	KATNAL2	18	44601709	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1005803	44601709	33475539	1473	123480											
SMAD7	4092	broad.mit.edu	37	chr18	46474795	46474796	+	Frame_Shift_Ins	INS	-	-	G													cgggtatctggagtaaggagINSgggggggagactctgaaatt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:46474794_46474795A>AG	uc002ldg.3	-	1	913_914	c.626_627T>CT	c.(625-627)cctfs	p.P209fs	SMAD7_uc010xde.2_5'UTR|SMAD7_uc021ujr.1_Frame_Shift_Ins_p.P209fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	209	Important for interaction with SMURF2.|Poly-Pro.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGGAGTAAGGAGGGGGGGGAGA	0.386													G	46474796	-	G	46474795	7	5	248	1	0	1	1	0	0	0	0	0	14763	1000	35	0	666	0	SMAD7	18	46474795	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1873086	46474795	31602453	1474	123481											
WDR7	23335	broad.mit.edu	37	chr18	54424333	54424333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgcaccgtatcgtttggcCtcttgtcaagaggaggccat	11	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:54424333C>A	uc002lgk.1	+	15	2720	c.2509C>A	c.(2509-2511)CTC>ATC	p.L837I	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.L837I	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	837										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		ATCGTTTGGCCTCTTGTCAAG	0.502													A	54424333	C	A	54424333	3	1	248	1	0	0	0	0	1	0	0	0	17317	681	24	5	2563	5	WDR7	18	54424333	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7949538	54424333	23652915	1475	123482											
ZNF532	55205	broad.mit.edu	37	chr18	56586416	56586416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcgagggaatcctccccGttaccaaaagaagtaaatga	8	9	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:56586416G>A	uc002lho.2	+	4	1444	c.897G>A	c.(895-897)CCG>CCA	p.P299P	ZNF532_uc002lhp.2_Silent_p.P297P|ZNF532_uc010xeg.1_Silent_p.P297P|ZNF532_uc002lhr.2_Silent_p.P297P|ZNF532_uc002lhs.2_Silent_p.P297P	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AATCCTCCCCGTTACCAAAAG	0.542													A	56586416	G	A	56586416	2	1	248	1	0	0	0	0	0	0	0	1	17969	1132	40	1		1	ZNF532	18	56586416	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2162083	56586416	21490832	1476	123483											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60036290	60036290	+	Frame_Shift_Del	DEL	G	G	-													ttctctgaacccctggaggtGggggagaatgacagtttaag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:60036289_60036289TG>T	uc002lin.3	+	8	1177	c.1139_1139TG>T	c.(1138-1140)gtgfs	p.V380fs	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	380					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|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)				CCCCTGGAGGTGGGGGAGAAT	0.552													-	60036290	G	-	60036290	7	5	248	1	0	1	0	1	0	0	0	0	16281	1335	47	0	1174	0	TNFRSF11A	18	60036290	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	3449874	60036290	18040958	1477	123484											
DOK6	220164	broad.mit.edu	37	chr18	67068491	67068491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctggccatggcctccaActttaacgacatagtcaagc	9	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:67068491A>G	uc002lkl.2	+	1	201	c.11A>G	c.(10-12)AAC>AGC	p.N4S		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	4							insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATGGCCTCCAACTTTAACGAC	0.677													G	67068491	A	G	67068491	3	3	248	1	0	0	0	0	1	0	0	0	4701	43	2	3	13	3	DOK6	18	67068491	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	7032201	67068491	11008757	1478	123485											
ZNF516	9658	broad.mit.edu	37	chr18	74153359	74153359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgcagcgggcccgcgccGccctgtccccgtcactgtcc	11	21	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:74153359G>A	uc010dqx.1	-	2	1887	c.1652C>T	c.(1651-1653)GCG>GTG	p.A551V	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCGCGCCGCCCTGTCCCC	0.701													A	74153359	G	A	74153359	3	1	248	1	0	0	0	0	1	0	0	0	17957	1087	38	1	1860	1	ZNF516	18	74153359	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7084868	74153359	3923889	1479	123486											
ZNF516	9658	broad.mit.edu	37	chr18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgccgggcccctgcgCggtgatgtggtccctctcga	15	16	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:74154335C>T	uc010dqx.1	-	2	911	c.676G>A	c.(676-678)GCG>ACG	p.A226T	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCCTGCGCGGTGATGTGG	0.697													T	74154335	C	T	74154335	3	4	248	1	0	0	0	0	1	0	0	0	17957	768	27	1	2836	1	ZNF516	18	74154335	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	976	74154335	3922913	1480	123487											
ZNF236	7776	broad.mit.edu	37	chr18	74583714	74583714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtggattcacgtattcGtgtccgcactgtggaaagac	12	8	1	2	rs144913116	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:74583714G>A	uc002lmi.2	+	5	792	c.594G>A	c.(592-594)TCG>TCA	p.S198S	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.S198S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	198	C2H2-type 6.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		TCACGTATTCGTGTCCGCACT	0.423													A	74583714	G	A	74583714	2	1	248	1	0	0	0	0	0	0	0	1	17786	1132	40	1		1	ZNF236	18	74583714	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	429379	74583714	3493534	1481	123488											
NFATC1	4772	broad.mit.edu	37	chr18	77171366	77171366	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccccccgcccccggCcgacttcgcgcccgaagact	12	21	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:77171366C>G	uc010xfg.1	+	2	1544	c.1091C>G	c.(1090-1092)GCC>GGC	p.A364G	NFATC1_uc002lnc.1_Missense_Mutation_p.A364G|NFATC1_uc010xff.1_Missense_Mutation_p.A364G|NFATC1_uc002lnd.2_Missense_Mutation_p.A364G|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A364G|NFATC1_uc010xfi.1_Missense_Mutation_p.A351G|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A351G|NFATC1_uc002lng.2_Missense_Mutation_p.A351G|NFATC1_uc010xfk.1_Missense_Mutation_p.A351G	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	364					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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCCCCCGGCCGACTTCGCG	0.697													G	77171366	C	G	77171366	3	3	248	1	0	0	0	0	1	0	0	0	10361	739	26	5	1189	5	NFATC1	18	77171366	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2587652	77171366	905882	1482	123489											
ODF3L2	284451	broad.mit.edu	37	chr19	474717	474717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggggctgtggccagccGtggggtggagtcgcagctga	21	8	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:474717G>A	uc002lor.2	-	1	267	c.31C>T	c.(31-33)CGG>TGG	p.R11W	ODF3L2_uc010drp.2_Missense_Mutation_p.R11W	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	11											0						GTGGCCAGCCGTGGGGTGGAG	0.706													A	474717	G	A	474717	3	1	248	1	0	0	0	0	1	0	0	0	10832	1144	40	1	854	1	ODF3L2	19	474717	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08		474717	58654266	1483	123490											
GZMM	3004	broad.mit.edu	37	chr19	549629	549629	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtgtgtcgtccctgcaGggtgactcgggcgggcccct	17	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:549629G>T	uc002low.1	+	5	658	c.613_splice	c.e5-1	p.G205_splice		NM_005317	NP_005308	P51124	GRAM_HUMAN	granzyme M precursor						apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		CGTCCCTGCAGGGTGACTCGG	0.682													T	549629	G	T	549629	5	4	248	1	0	0	0	0	0	0	1	0	6919	1014	35	5	630	5	GZMM	19	549629	Splice_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	74912	549629	58579354	1484	123491											
ELANE	1991	broad.mit.edu	37	chr19	853270	853270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccggcagaaacgtccGcgcggtgcgggtggtcctgg	16	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:853270G>A	uc002lqb.2	+	3	271	c.233G>A	c.(232-234)CGC>CAC	p.R78H		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	78	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGAAACGTCCGCGCGGTGCGG	0.741									Kostmann_syndrome				A	853270	G	A	853270	3	1	248	1	0	0	0	0	1	0	0	0	5048	1087	38	1	243	1	ELANE	19	853270	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	303641	853270	58275713	1485	123492											
C19orf22	91300	broad.mit.edu	37	chr19	899652	899652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggacacggagaagaacCgaagcagccgctcctcccag	15	13	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:899652C>T	uc002lqg.2	-	6	664	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	C19orf22_uc002lqh.2_Missense_Mutation_p.R178Q|C19orf22_uc002lqi.2_Silent_p.S198S|C19orf22_uc002lqj.2_Missense_Mutation_p.R77Q	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	199	R3H.					nucleus	nucleic acid binding			pancreas(1)	1		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)		GGAGAAGAACCGAAGCAGCCG	0.692													T	899652	C	T	899652	3	4	248	1	0	0	0	0	1	0	0	0	1914	652	23	1	222	1	C19orf22	19	899652	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	46382	899652	58229331	1486	123493											
HMHA1	23526	broad.mit.edu	37	chr19	1080948	1080948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcccagtggaccgttccGccacgaggggctgtccaagg	15	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1080948G>A	uc002lqz.1	+	17	2306	c.2075G>A	c.(2074-2076)CGC>CAC	p.R692H	HMHA1_uc010xgd.1_Missense_Mutation_p.R708H|HMHA1_uc010xge.1_Missense_Mutation_p.R560H|HMHA1_uc002lra.1_Missense_Mutation_p.R532H|HMHA1_uc002lrb.1_Missense_Mutation_p.R575H|HMHA1_uc002lrc.1_Missense_Mutation_p.R327H|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	692					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		GGACCGTTCCGCCACGAGGGG	0.692													A	1080948	G	A	1080948	3	1	248	1	0	0	0	0	1	0	0	0	7240	1087	38	1	2141	1	HMHA1	19	1080948	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	181296	1080948	58048035	1487	123494											
APC2	10297	broad.mit.edu	37	chr19	1466078	1466078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcctctccaacgacagCctcaacagcggcagtgccag	10	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1466078C>T	uc002lsr.1	+	15	2986	c.2778C>T	c.(2776-2778)AGC>AGT	p.S926S	APC2_uc002lss.1_Silent_p.S508S|APC2_uc002lst.1_Silent_p.S926S|APC2_uc002lsu.1_Silent_p.S925S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	926					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)|pancreas(1)	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)		CCAACGACAGCCTCAACAGCG	0.741													T	1466078	C	T	1466078	2	4	248	1	0	0	0	0	0	0	0	1	764	738	26	2		2	APC2	19	1466078	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	385130	1466078	57662905	1488	123495											
PCSK4	54760	broad.mit.edu	37	chr19	1482151	1482152	+	Frame_Shift_Ins	INS	-	-	G													ttgtgtggttgaagaaccgcINSggggggcagtaggccaggca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1482151_1482152insG	uc002ltb.1	-	15	1936_1937	c.1874_1875insC	c.(1873-1875)CCGfs	p.P625fs	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|PCSK4_uc002lsz.2_Frame_Shift_Ins_p.P112fs|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	625					proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		TGAAGAACCGCGGGGGGCAGTA	0.693													G	1482152	-	G	1482151	7	5	248	1	0	1	1	0	0	0	0	0	11602	755	27	0	396	0	PCSK4	19	1482151	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	16073	1482151	57646832	1489	123496											
MBD3	53615	broad.mit.edu	37	chr19	1592612	1592612	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcgggagcgccgggcactCccacctcttccgctccattg	11	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1592612C>A	uc002ltl.1	-	1	41	c.19G>T	c.(19-21)GAG>TAG	p.E7*	MBD3_uc002ltj.2_Nonsense_Mutation_p.E7*|MBD3_uc002ltk.2_Intron	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	7	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)		GCCGGGCACTCCCACCTCTTC	0.448													A	1592612	C	A	1592612	4	1	248	1	0	0	0	0	0	1	0	0	9344	864	30	5	880	5	MBD3	19	1592612	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	110461	1592612	57536371	1490	123497											
REXO1	57455	broad.mit.edu	37	chr19	1819035	1819035	+	Frame_Shift_Del	DEL	G	G	-													acctttcaggtcctccacccGggggctgcttggacggctga					rs142515155	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1819034_1819034CG>C	uc002lua.4	-	7	2842	c.2747_2747CG>G	c.(2746-2748)cggfs	p.R916fs	REXO1_uc010dsq.3_Frame_Shift_Del_p.R225fs|REXO1_uc010xgs.1_5'UTR|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	916						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GTCCTCCACCCGGGGGCTGCT	0.677													-	1819035	G	-	1819035	7	5	248	1	0	1	0	1	0	0	0	0	13241	1115	39	0	955	0	REXO1	19	1819035	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	226423	1819035	57309948	1491	123498											
FAM108A1	81926	broad.mit.edu	37	chr19	1877672	1877672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacaggatgatgctgtccGggctgatgccgtacctggcg	15	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1877672G>A	uc002lug.2	-	4	948	c.542C>T	c.(541-543)CCG>CTG	p.P181L	FAM108A1_uc002lud.2_Intron|FAM108A1_uc002lue.2_Missense_Mutation_p.P181L|FAM108A1_uc002luf.2_Missense_Mutation_p.P232L	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	181						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		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)		GATGCTGTCCGGGCTGATGCC	0.741													A	1877672	G	A	1877672	3	1	248	1	0	0	0	0	1	0	0	0	5391	1116	39	1	398	1	FAM108A1	19	1877672	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	58637	1877672	57251311	1492	123499											
MKNK2	2872	broad.mit.edu	37	chr19	2039737	2039737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtagctcggaccaggaCgggctggccctgccccgcgg	17	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:2039737C>T	uc002lus.2	-	14	1518	c.1273G>A	c.(1273-1275)GTC>ATC	p.V425I	MKNK2_uc002luq.1_Intron|MKNK2_uc010xgu.1_Missense_Mutation_p.V264I|MKNK2_uc010xgv.1_Missense_Mutation_p.V294I|MKNK2_uc002lur.2_Intron|MKNK2_uc002lut.1_3'UTR	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	425					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		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)		CGGACCAGGACGGGCTGGCCC	0.701													T	2039737	C	T	2039737	3	4	248	1	0	0	0	0	1	0	0	0	9605	536	19	1	223	1	MKNK2	19	2039737	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	162065	2039737	57089246	1493	123500											
SLC39A3	29985	broad.mit.edu	37	chr19	2733465	2733465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtgctgatgtggccgaGgctcaggaccttctggagct	16	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:2733465G>T	uc002lwg.2	-	3	483	c.229C>A	c.(229-231)CTC>ATC	p.L77I	SLC39A3_uc010xgy.1_Missense_Mutation_p.L77I	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	77	Extracellular (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		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)		ATGTGGCCGAGGCTCAGGACC	0.637													T	2733465	G	T	2733465	3	4	248	1	0	0	0	0	1	0	0	0	14619	1000	35	5	719	5	SLC39A3	19	2733465	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	693728	2733465	56395518	1494	123501											
TLE6	79816	broad.mit.edu	37	chr19	2989160	2989160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaactggaaaagatgcGgatcttggcacacggggagc	15	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:2989160G>A	uc002lwu.2	+	11	873	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	TLE6_uc002lwt.2_Missense_Mutation_p.R281Q|TLE6_uc010dtg.2_Missense_Mutation_p.R281Q|TLE6_uc002lwv.2_Missense_Mutation_p.R62Q	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	158					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		GAAAAGATGCGGATCTTGGCA	0.602													A	2989160	G	A	2989160	3	1	248	1	0	0	0	0	1	0	0	0	15939	1116	39	1	884	1	TLE6	19	2989160	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	255695	2989160	56139823	1495	123502											
TLE2	7089	broad.mit.edu	37	chr19	3009542	3009542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacccaaggactcaccaCgggggagcgtccgtacacca	10	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3009542C>T	uc002lww.2	-	13	1434	c.1171G>A	c.(1171-1173)GTG>ATG	p.V391M	TLE2_uc010xhb.1_Missense_Mutation_p.V58M|TLE2_uc010dth.2_Missense_Mutation_p.V392M|TLE2_uc010xhc.1_Missense_Mutation_p.V269M|TLE2_uc010dti.2_Missense_Mutation_p.V405M|TLE2_uc010xhd.1_Missense_Mutation_p.V299M	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	391	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		GGACTCACCACGGGGGAGCGT	0.642													T	3009542	C	T	3009542	3	4	248	1	0	0	0	0	1	0	0	0	15936	536	19	1	1092	1	TLE2	19	3009542	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	20382	3009542	56119441	1496	123503											
S1PR4	8698	broad.mit.edu	37	chr19	3179113	3179113	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacgtgctgctgtcgggggCccgcaccttccgtctggcgc	14	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3179113C>G	uc002lxg.2	+	1	348	c.323C>G	c.(322-324)GCC>GGC	p.A108G		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	108	Extracellular (By similarity).				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			lung(1)|skin(1)	2						CTGTCGGGGGCCCGCACCTTC	0.677													G	3179113	C	G	3179113	3	3	248	1	0	0	0	0	1	0	0	0	13796	739	26	5	325	5	S1PR4	19	3179113	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	169571	3179113	55949870	1497	123504											
S1PR4	8698	broad.mit.edu	37	chr19	3179520	3179520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacgcccagcggcccgcCgcaaggcccgccgcctgctg	12	23	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3179520C>T	uc002lxg.2	+	1	755	c.730C>T	c.(730-732)CGC>TGC	p.R244C		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	244	Cytoplasmic (By similarity).				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			lung(1)|skin(1)	2						AGCGGCCCGCCGCAAGGCCCG	0.697													T	3179520	C	T	3179520	3	4	248	1	0	0	0	0	1	0	0	0	13796	652	23	1	732	1	S1PR4	19	3179520	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	407	3179520	55949463	1498	123505											
NCLN	56926	broad.mit.edu	37	chr19	3204661	3204661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcctgggagcacgagCgcttcgccatccgccgactg	14	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3204661C>T	uc002lxi.2	+	9	1274	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Missense_Mutation_p.R19C	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	374	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		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)		GGAGCACGAGCGCTTCGCCAT	0.687													T	3204661	C	T	3204661	3	4	248	1	0	0	0	0	1	0	0	0	10227	768	27	1	1154	1	NCLN	19	3204661	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	25141	3204661	55924322	1499	123506											
NFIC	4782	broad.mit.edu	37	chr19	3452527	3452527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctctgcatttccctacgAcgtccatcctaccccagacg	6	19	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3452527A>G	uc010xhi.1	+	8	1194	c.1132A>G	c.(1132-1134)ACG>GCG	p.T378A	NFIC_uc002lxo.2_Missense_Mutation_p.T369A|NFIC_uc010xhh.1_Missense_Mutation_p.T369A|NFIC_uc002lxp.2_Missense_Mutation_p.T378A|NFIC_uc010xhj.1_Missense_Mutation_p.T378A	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	378					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				0		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)		TTTCCCTACGACGTCCATCCT	0.647													G	3452527	A	G	3452527	3	3	248	1	0	0	0	0	1	0	0	0	10372	275	10	3	1169	3	NFIC	19	3452527	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	247866	3452527	55676456	1500	123507											
DOHH	83475	broad.mit.edu	37	chr19	3491749	3491749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaccgccgcctcgtgcTgcagctgtcccaggacgtag	15	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3491749T>C	uc002lxs.2	-	5	813	c.650A>G	c.(649-651)CAG>CGG	p.Q217R	DOHH_uc010xhl.1_Missense_Mutation_p.Q217R	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	217	HEAT-like PBS-type 4.				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTCGTGCTGCAGCTGTCC	0.731													C	3491749	T	C	3491749	3	2	248	1	0	0	0	0	1	0	0	0	4695	1580	55	3	262	3	DOHH	19	3491749	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	39222	3491749	55637234	1501	123508											
FZR1	51343	broad.mit.edu	37	chr19	3523010	3523010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggactatgagcggcGcctgcttcgccagatcgtca	13	13	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3523010G>A	uc010dtk.2	+	1	57	c.23G>A	c.(22-24)CGC>CAC	p.R8H	FZR1_uc002lxt.2_Missense_Mutation_p.R8H|FZR1_uc002lxv.2_Missense_Mutation_p.R8H	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	8					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			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGAGCGGCGCCTGCTTCGC	0.687													A	3523010	G	A	3523010	3	1	248	1	0	0	0	0	1	0	0	0	6138	1087	38	1	25	1	FZR1	19	3523010	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	31261	3523010	55605973	1502	123509											
GIPC3	126326	broad.mit.edu	37	chr19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-													agaccctgcggcttcgttctGggggggctgccacagtggag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3589526_3589526TG>T	uc002lyd.4	+	3	705	c.678_678TG>T	c.(676-678)tctfs	p.S226fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	226								p.S226F(1)		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)		GGCTTCGTTCTGGGGGGGCTG	0.612													-	3589527	G	-	3589527	7	5	248	1	0	1	0	1	0	0	0	0	6394	1348	47	0	693	0	GIPC3	19	3589527	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	66517	3589527	55539456	1503	123510											
TBXA2R	6915	broad.mit.edu	37	chr19	3595833	3595833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggttccaggtggccacGcgcaagtagatgagcagctc	13	11	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3595833G>A	uc002lyg.1	-	3	1099	c.885C>T	c.(883-885)CGC>CGT	p.R295R	TBXA2R_uc002lye.1_Missense_Mutation_p.R166C	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	295	Helical; Name=7; (Potential).			R->Q: Reduces antagonist binding.	platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	AGGTGGCCACGCGCAAGTAGA	0.672													A	3595833	G	A	3595833	2	1	248	1	0	0	0	0	0	0	0	1	15660	1074	38	1		1	TBXA2R	19	3595833	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	6306	3595833	55533150	1504	123511											
MATK	4145	broad.mit.edu	37	chr19	3784121	3784121	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctgtcctgcccactcaCggcatgaggctgagcttggg	13	15	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3784121C>T	uc002lyt.2	-	5	762	c.362_splice	c.e5+1	p.P121_splice	MATK_uc002lyv.2_Splice_Site_p.P122_splice|MATK_uc002lyu.2_Splice_Site_p.P80_splice|MATK_uc010dtq.2_Splice_Site_p.P121_splice	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform						cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		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)		TGCCCACTCACGGCATGAGGC	0.701													T	3784121	C	T	3784121	5	4	248	1	0	0	0	0	0	0	1	0	9332	550	19	1	1200	1	MATK	19	3784121	Splice_Site	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	188288	3784121	55344862	1505	123512											
KDM4B	23030	broad.mit.edu	37	chr19	5133979	5133979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtggaagaacagggcGgccagcttccaggccgagag	16	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5133979G>A	uc002mbq.3	+	14	2218	c.1992G>A	c.(1990-1992)GCG>GCA	p.A664A	KDM4B_uc010xim.1_Silent_p.A698A|KDM4B_uc002mbr.3_Silent_p.A422A	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	664					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			lung(1)	1						AGAACAGGGCGGCCAGCTTCC	0.632													A	5133979	G	A	5133979	2	1	248	1	0	0	0	0	0	0	0	1	8129	1103	39	1		1	KDM4B	19	5133979	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1349858	5133979	53995004	1506	123513											
PTPRS	5802	broad.mit.edu	37	chr19	5207965	5207965	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggccggccgctgggttcGtagcatcttcaccgtctgaa	12	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5207965G>A	uc002mbv.2	-	37	5980	c.5746C>T	c.(5746-5748)CGA>TGA	p.R1916*	PTPRS_uc002mbu.1_Nonsense_Mutation_p.R1485*|PTPRS_uc010xin.1_Nonsense_Mutation_p.R1458*|PTPRS_uc002mbw.2_Nonsense_Mutation_p.R1878*|PTPRS_uc002mbx.2_Nonsense_Mutation_p.R1473*|PTPRS_uc002mby.2_Nonsense_Mutation_p.R1469*	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1916	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGCTGGGTTCGTAGCATCTTC	0.577													A	5207965	G	A	5207965	4	1	248	1	0	0	0	0	0	1	0	0	12811	1153	40	1	108	1	PTPRS	19	5207965	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	73986	5207965	53921018	1507	123514											
DUS3L	56931	broad.mit.edu	37	chr19	5788376	5788376	+	Frame_Shift_Del	DEL	G	G	-													cccaggtcctaccgtggtgaGgggggccaggtaaagtttgc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5788375_5788375AG>A	uc002mdc.3	-	3	1032	c.935_935CT>T	c.(934-936)ctcfs	p.L312fs	DUS3L_uc002mdd.3_Frame_Shift_Del_p.L70fs|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	312					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						TACCGTGGTGAGGGGGGCCAG	0.602													-	5788376	G	-	5788376	7	5	248	1	0	1	0	1	0	0	0	0	4807	1000	35	0	1058	0	DUS3L	19	5788376	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	580411	5788376	53340607	1508	123515											
FUT5	2527	broad.mit.edu	37	chr19	5867620	5867620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggggatccagtggcatcGtctcgggacacacgcaggta	14	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5867620G>A	uc002mdo.3	-	2	205	c.117C>T	c.(115-117)GAC>GAT	p.D39D	FUT5_uc010duo.2_Silent_p.D39D	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	39	Lumenal (Potential).				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				0						CAGTGGCATCGTCTCGGGACA	0.652													A	5867620	G	A	5867620	2	1	248	1	0	0	0	0	0	0	0	1	6107	1136	40	1		1	FUT5	19	5867620	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	79244	5867620	53261363	1509	123516											
RANBP3	8498	broad.mit.edu	37	chr19	5923223	5923223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtaacacattgctctcCgcctcctccccggtgatgac	7	17	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5923223C>T	uc002mdw.2	-	13	1418	c.1191G>A	c.(1189-1191)GCG>GCA	p.A397A	RANBP3_uc002mdv.2_Silent_p.A116A|RANBP3_uc002mdx.2_Silent_p.A392A|RANBP3_uc002mdy.2_Silent_p.A329A|RANBP3_uc002mdz.2_Silent_p.A324A|RANBP3_uc010duq.2_Silent_p.A302A|RANBP3_uc002mea.2_Silent_p.A264A|RANBP3_uc010xix.1_Silent_p.A269A	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	397	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CATTGCTCTCCGCCTCCTCCC	0.622													T	5923223	C	T	5923223	2	4	248	1	0	0	0	0	0	0	0	1	13029	639	23	1		1	RANBP3	19	5923223	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	55603	5923223	53205760	1510	123517											
RANBP3	8498	broad.mit.edu	37	chr19	5923269	5923269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttccaacaaacacttcCgcgctgttgccttggtgtag	8	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5923269C>T	uc002mdw.2	-	13	1372	c.1145G>A	c.(1144-1146)CGG>CAG	p.R382Q	RANBP3_uc002mdv.2_Missense_Mutation_p.R101Q|RANBP3_uc002mdx.2_Missense_Mutation_p.R377Q|RANBP3_uc002mdy.2_Missense_Mutation_p.R314Q|RANBP3_uc002mdz.2_Missense_Mutation_p.R309Q|RANBP3_uc010duq.2_Missense_Mutation_p.R287Q|RANBP3_uc002mea.2_Missense_Mutation_p.R249Q|RANBP3_uc010xix.1_Missense_Mutation_p.R254Q	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	382	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CAAACACTTCCGCGCTGTTGC	0.567													T	5923269	C	T	5923269	3	4	248	1	0	0	0	0	1	0	0	0	13029	652	23	1	578	1	RANBP3	19	5923269	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	46	5923269	53205714	1511	123518											
DENND1C	79958	broad.mit.edu	37	chr19	6468936	6468936	+	Frame_Shift_Del	DEL	C	C	-													gggctggggccctcagagagCcccccctctgcaggacagag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:6468936delC	uc002mfe.2	-	20	1528	c.1436delG	c.(1435-1437)GGCfs	p.G479fs	DENND1C_uc002mfb.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfc.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfd.2_Frame_Shift_Del_p.G29fs|DENND1C_uc010xje.1_Frame_Shift_Del_p.G435fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CCTCAGAGAGCCCCCCCTCTG	0.627													-	6468936	C	-	6468936	7	5	248	1	0	1	0	1	0	0	0	0	4428	739	26	0	985	0	DENND1C	19	6468936	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	545667	6468936	52660047	1512	123519											
C3	718	broad.mit.edu	37	chr19	6697783	6697783	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgcattactgtgacctcGaaggggtctgccacacagat	10	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:6697783G>A	uc002mfm.2	-	20	2525	c.2463C>T	c.(2461-2463)TTC>TTT	p.F821F		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	821					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGTGACCTCGAAGGGGTCTG	0.562													A	6697783	G	A	6697783	2	1	248	1	0	0	0	0	0	0	0	1	2204	1049	37	1		1	C3	19	6697783	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	228847	6697783	52431200	1513	123520											
TRIP10	9322	broad.mit.edu	37	chr19	6741246	6741246	+	Frame_Shift_Del	DEL	A	A	-													ctccccttaggagcctggtgAaaaaatatctgcccaagaga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:6741245_6741245GA>G	uc002mfs.3	+	2	216	c.150_150GA>G	c.(148-150)gtgfs	p.V50fs	TRIP10_uc010dux.2_Frame_Shift_Del_p.V50fs|TRIP10_uc002mfr.3_Frame_Shift_Del_p.V50fs|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	50	FCH.|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	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGAGCCTGGTGAAAAAATATC	0.622													-	6741246	A	-	6741246	7	5	248	1	0	1	0	1	0	0	0	0	16551	247	9	0	161	0	TRIP10	19	6741246	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	43463	6741246	52387737	1514	123521											
PNPLA6	10908	broad.mit.edu	37	chr19	7615275	7615275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccagatggacttcgccAtcgactggactgcagtggag	14	11	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7615275A>G	uc010xjq.1	+	17	2128	c.1933A>G	c.(1933-1935)ATC>GTC	p.I645V	PNPLA6_uc002mgq.1_Missense_Mutation_p.I597V|PNPLA6_uc010xjp.1_Missense_Mutation_p.I571V|PNPLA6_uc002mgr.1_Missense_Mutation_p.I597V|PNPLA6_uc002mgs.2_Missense_Mutation_p.I636V	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	636	Cytoplasmic (Potential).|cNMP 3.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GGACTTCGCCATCGACTGGAC	0.687													G	7615275	A	G	7615275	3	3	248	1	0	0	0	0	1	0	0	0	12169	217	8	3	1995	3	PNPLA6	19	7615275	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	874029	7615275	51513708	1515	123522											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747332	7747332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccaggtgggcgcgcgcGtgctggatgcgctggtggcg	21	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7747332G>A	uc002mhi.1	+	2	263	c.193G>A	c.(193-195)GTG>ATG	p.V65M	TRAPPC5_uc002mhj.1_Missense_Mutation_p.V65M|TRAPPC5_uc002mhk.1_Missense_Mutation_p.V65M	NM_001042462	NP_001035927	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	65					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding				0						GGGCGCGCGCGTGCTGGATGC	0.701													A	7747332	G	A	7747332	3	1	248	1	0	0	0	0	1	0	0	0	16459	1145	40	1	195	1	TRAPPC5	19	7747332	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	132057	7747332	51381651	1516	123523											
EVI5L	115704	broad.mit.edu	37	chr19	7925501	7925501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagaccgagctggagCagtcgaggctgcgggagacg	18	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7925501C>T	uc002min.2	+	13	1550	c.1396C>T	c.(1396-1398)CAG>TAG	p.Q466*	EVI5L_uc010xjz.1_Nonsense_Mutation_p.Q477*	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	466						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CGAGCTGGAGCAGTCGAGGCT	0.662													T	7925501	C	T	7925501	4	4	248	1	0	0	0	0	0	1	0	0	5290	711	25	2	1479	2	EVI5L	19	7925501	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	178169	7925501	51203482	1517	123524											
LRRC8E	80131	broad.mit.edu	37	chr19	7965091	7965091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgttgctggccacctgcagAggctcagcctgcacaacgat	11	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7965091A>G	uc002mir.2	+	3	1785	c.1684A>G	c.(1684-1686)AGG>GGG	p.R562G		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	562	LRR 3.					integral to membrane				lung(1)|pancreas(1)	2						CCACCTGCAGAGGCTCAGCCT	0.662													G	7965091	A	G	7965091	3	3	248	1	0	0	0	0	1	0	0	0	9025	295	11	3	1690	3	LRRC8E	19	7965091	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	39590	7965091	51163892	1518	123525											
MAP2K7	5609	broad.mit.edu	37	chr19	7976013	7976013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggactccaaagccaagaCgcggagcgccggctgtgccg	16	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7976013C>T	uc002mit.2	+	7	889	c.824C>T	c.(823-825)ACG>ATG	p.T275M	MAP2K7_uc002miv.2_Missense_Mutation_p.T275M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.T275M|MAP2K7_uc010dvv.2_Missense_Mutation_p.T150M	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	275	Protein kinase.				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	AAAGCCAAGACGCGGAGCGCC	0.701													T	7976013	C	T	7976013	3	4	248	1	0	0	0	0	1	0	0	0	9242	536	19	1	850	1	MAP2K7	19	7976013	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10922	7976013	51152970	1519	123526											
MAP2K7	5609	broad.mit.edu	37	chr19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctacaagaactgcaagaCggactttgaggtcctcacca	8	13	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7976364C>T	uc002mit.2	+	9	1045	c.980C>T	c.(979-981)ACG>ATG	p.T327M	MAP2K7_uc002miv.2_Missense_Mutation_p.T334M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.T334M|MAP2K7_uc010dvv.2_Missense_Mutation_p.T202M	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	327	Protein kinase.				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	AACTGCAAGACGGACTTTGAG	0.592													T	7976364	C	T	7976364	3	4	248	1	0	0	0	0	1	0	0	0	9242	536	19	1	1014	1	MAP2K7	19	7976364	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	351	7976364	51152619	1520	123527											
ELAVL1	1994	broad.mit.edu	37	chr19	8032648	8032648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaccgtttgtcaaaccGgataaacgcaacccctctgg	8	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:8032648G>A	uc002mjb.2	-	5	624	c.457C>T	c.(457-459)CGG>TGG	p.R153W		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	153	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TTGTCAAACCGGATAAACGCA	0.453													A	8032648	G	A	8032648	3	1	248	1	0	0	0	0	1	0	0	0	5049	1115	39	1	531	1	ELAVL1	19	8032648	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	56284	8032648	51096335	1521	123528											
MYO1F	4542	broad.mit.edu	37	chr19	8595190	8595190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccccaggtagtccccgaCgaagttccgattgatgctgt	11	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:8595190C>T	uc002mkg.2	-	21	2332	c.2218G>A	c.(2218-2220)GTC>ATC	p.V740I		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	740						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TAGTCCCCGACGAAGTTCCGA	0.627													T	8595190	C	T	8595190	3	4	248	1	0	0	0	0	1	0	0	0	10073	536	19	1	1110	1	MYO1F	19	8595190	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	562542	8595190	50533793	1522	123529											
MBD3L1	85509	broad.mit.edu	37	chr19	8953587	8953587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggactccaggcttacaGcagtgcaggagaactttcaa	12	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:8953587G>T	uc002mko.2	+	1	319	c.233G>T	c.(232-234)AGC>ATC	p.S78I		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	78	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CAGGCTTACAGCAGTGCAGGA	0.517													T	8953587	G	T	8953587	3	4	248	1	0	0	0	0	1	0	0	0	9345	971	34	5	235	5	MBD3L1	19	8953587	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	358397	8953587	50175396	1523	123530											
MUC16	94025	broad.mit.edu	37	chr19	9064269	9064269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatatctgtggttgtcGccgggccagaggtgagaagt	15	8	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9064269G>A	uc002mkp.2	-	3	23381	c.23177C>T	c.(23176-23178)GCG>GTG	p.A7726V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7728	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTGGTTGTCGCCGGGCCAGA	0.522													A	9064269	G	A	9064269	3	1	248	1	0	0	0	0	1	0	0	0	9973	1087	38	1	20674	1	MUC16	19	9064269	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	110682	9064269	50064714	1524	123531											
MUC16	94025	broad.mit.edu	37	chr19	9090001	9090001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattgaaatcccagtgggaAcagcaaactgatgggtggtt	12	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9090001A>G	uc002mkp.2	-	1	2018	c.1814T>C	c.(1813-1815)GTT>GCT	p.V605A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	605	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCCAGTGGGAACAGCAAACTG	0.542													G	9090001	A	G	9090001	3	3	248	1	0	0	0	0	1	0	0	0	9973	43	2	3	42045	3	MUC16	19	9090001	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	25732	9090001	50038982	1525	123532											
OR1M1	125963	broad.mit.edu	37	chr19	9204336	9204336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaagatcatgagcctacGcctctgtcgcctgctggtcg	11	15	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9204336G>A	uc010xkj.1	+	1	416	c.416G>A	c.(415-417)CGC>CAC	p.R139H		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						ATGAGCCTACGCCTCTGTCGC	0.572													A	9204336	G	A	9204336	3	1	248	1	0	0	0	0	1	0	0	0	10968	1087	38	1	418	1	OR1M1	19	9204336	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	114335	9204336	49924647	1526	123533											
OR7G3	390883	broad.mit.edu	37	chr19	9237177	9237177	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcatccaggacactaacGatgaaggacagcagaagcag	12	9	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9237177G>A	uc010xkl.1	-	1	450	c.450C>T	c.(448-450)ATC>ATT	p.I150I		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGACACTAACGATGAAGGACA	0.493													A	9237177	G	A	9237177	2	1	248	1	0	0	0	0	0	0	0	1	11224	1048	37	1		1	OR7G3	19	9237177	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	32841	9237177	49891806	1527	123534											
OR7D4	125958	broad.mit.edu	37	chr19	9325369	9325369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgggagtcagagctgaCggccagaatgatgagcaggt	18	6	1	5	rs112089905		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9325369C>T	uc002mla.1	-	1	145	c.145G>A	c.(145-147)GTC>ATC	p.V49I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TCAGAGCTGACGGCCAGAATG	0.552													T	9325369	C	T	9325369	3	4	248	1	0	0	0	0	1	0	0	0	11220	536	19	1	797	1	OR7D4	19	9325369	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	88192	9325369	49803614	1528	123535											
ZNF426	79088	broad.mit.edu	37	chr19	9639964	9639964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcccataattcctccattCgtagagtttttctccattgt	6	11	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9639964C>T	uc002mlq.2	-	8	1021	c.757G>A	c.(757-759)GAA>AAA	p.E253K	ZNF426_uc010dws.2_Missense_Mutation_p.E215K	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCCTCCATTCGTAGAGTTTT	0.383													T	9639964	C	T	9639964	3	4	248	1	0	0	0	0	1	0	0	0	17897	893	31	1	911	1	ZNF426	19	9639964	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	314595	9639964	49489019	1529	123536											
ZNF846	162993	broad.mit.edu	37	chr19	9868260	9868260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttgctccagtgtgagttCgtgtgtgaacgttaaggtat	13	5	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9868260C>T	uc002mmb.1	-	6	2024	c.1493G>A	c.(1492-1494)CGA>CAA	p.R498Q	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.R369Q	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	498	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTGTGAGTTCGTGTGTGAAC	0.403													T	9868260	C	T	9868260	3	4	248	1	0	0	0	0	1	0	0	0	18189	884	31	1	112	1	ZNF846	19	9868260	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	228296	9868260	49260723	1530	123537											
EIF3G	8666	broad.mit.edu	37	chr19	10226676	10226676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatggactccccgcggcGgctggccccgtcgcgcaggc	15	18	0	0	rs150270880		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:10226676G>A	uc002mnd.2	-	8	734	c.670C>T	c.(670-672)CGC>TGC	p.R224C		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	224						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TCCCCGCGGCGGCTGGCCCCG	0.667													A	10226676	G	A	10226676	3	1	248	1	0	0	0	0	1	0	0	0	5017	1116	39	1	308	1	EIF3G	19	10226676	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	358416	10226676	48902307	1531	123538											
ZGLP1	100125288	broad.mit.edu	37	chr19	10419343	10419343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggctacacaccccacCtgaggttcagtcatttctaa	8	13	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:10419343C>A	uc002mnw.3	-	1	891	c.15G>T	c.(13-15)CAG>CAT	p.Q5H	FDX1L_uc002mnx.1_Intron	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	GATA like protein-1	5					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CACACCCCACCTGAGGTTCAG	0.577													A	10419343	C	A	10419343	3	1	248	1	0	0	0	0	1	0	0	0	17670	680	24	5	816	5	ZGLP1	19	10419343	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	192667	10419343	48709640	1532	123539											
TYK2	7297	broad.mit.edu	37	chr19	10463754	10463754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggtggatgtagtgctgCgcgtgcagataggccatgcc	15	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:10463754C>T	uc002moc.3	-	22	3426	c.3048G>A	c.(3046-3048)GCG>GCA	p.A1016A	TYK2_uc010dxe.2_Silent_p.A831A	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1016	Protein kinase 2.			A -> S (in Ref. 3; AAH14243).	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			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGTAGTGCTGCGCGTGCAGAT	0.687													T	10463754	C	T	10463754	2	4	248	1	0	0	0	0	0	0	0	1	16807	755	27	1		1	TYK2	19	10463754	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	44411	10463754	48665229	1533	123540											
DOCK6	57572	broad.mit.edu	37	chr19	11312710	11312710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcagaacaggaatgtgCgaagcccatagttgcggtca	14	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:11312710C>T	uc002mqs.3	-	44	5584	c.5543G>A	c.(5542-5544)CGC>CAC	p.R1848H	DOCK6_uc002mqr.3_Missense_Mutation_p.R248H|DOCK6_uc010xlq.1_Missense_Mutation_p.R1187H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1848	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CAGGAATGTGCGAAGCCCATA	0.602													T	11312710	C	T	11312710	3	4	248	1	0	0	0	0	1	0	0	0	4691	768	27	1	620	1	DOCK6	19	11312710	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	848956	11312710	47816273	1534	123541											
LPPR2	64748	broad.mit.edu	37	chr19	11471968	11471968	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaccggcaatcccacgcCacacttcctgtccgtgtgcc	10	17	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:11471968C>A	uc002mre.1	+	6	804	c.467C>A	c.(466-468)CCA>CAA	p.P156Q	LPPR2_uc002mrf.1_Missense_Mutation_p.P131Q|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	156						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						AATCCCACGCCACACTTCCTG	0.652													A	11471968	C	A	11471968	3	1	248	1	0	0	0	0	1	0	0	0	8925	594	21	5	481	5	LPPR2	19	11471968	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	159258	11471968	47657015	1535	123542											
ZNF799	90576	broad.mit.edu	37	chr19	12501372	12501372	+	Frame_Shift_Del	DEL	T	T	-													cgggttctctccagtgtgagTttttttccagtgagtctttt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:12501371_12501371GT>G	uc010dyt.3	-	3	2045	c.1841_1841AC>C	c.(1840-1842)actfs	p.T614fs	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	614					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						TCCAGTGTGAGTTTTTTTCCA	0.413													-	12501372	T	-	12501372	7	5	248	1	0	1	0	1	0	0	0	0	18163	1725	60	0	95	0	ZNF799	19	12501372	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1029404	12501372	46627611	1536	123543											
HOOK2	29911	broad.mit.edu	37	chr19	12878234	12878234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcaggcaggatctctgCggctaagttatccacgggtg	13	12	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:12878234C>T	uc002muy.2	-	14	1519	c.1348G>A	c.(1348-1350)GCA>ACA	p.A450T	HOOK2_uc010xmq.1_5'Flank|HOOK2_uc002muz.2_Missense_Mutation_p.A450T	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	450	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			ovary(1)|breast(1)|skin(1)	3						AGGATCTCTGCGGCTAAGTTA	0.622													T	12878234	C	T	12878234	3	4	248	1	0	0	0	0	1	0	0	0	7283	768	27	1	851	1	HOOK2	19	12878234	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	376862	12878234	46250749	1537	123544											
NFIX	4784	broad.mit.edu	37	chr19	13192571	13192571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcgagcccgtatttcacgCacccgaccatccgctaccac	7	18	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:13192571C>T	uc010xmx.1	+	8	1233	c.1180C>T	c.(1180-1182)CAC>TAC	p.H394Y	NFIX_uc002mwd.2_Missense_Mutation_p.H386Y|NFIX_uc002mwe.2_Missense_Mutation_p.H378Y|NFIX_uc002mwf.2_Missense_Mutation_p.H348Y|NFIX_uc002mwg.1_Missense_Mutation_p.H385Y			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	386					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			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GTATTTCACGCACCCGACCAT	0.637													T	13192571	C	T	13192571	3	4	248	1	0	0	0	0	1	0	0	0	10374	710	25	2	1186	2	NFIX	19	13192571	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	314337	13192571	45936412	1538	123545											
NACC1	112939	broad.mit.edu	37	chr19	13249192	13249192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagccacgagggcgaggCgggtccctcggctgaagccc	16	16	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:13249192C>T	uc002mwm.2	+	6	1724	c.1556C>T	c.(1555-1557)GCG>GTG	p.A519V		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	519					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						GAGGGCGAGGCGGGTCCCTCG	0.632													T	13249192	C	T	13249192	3	4	248	1	0	0	0	0	1	0	0	0	10135	768	27	1	1574	1	NACC1	19	13249192	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	56621	13249192	45879791	1539	123546											
CC2D1A	54862	broad.mit.edu	37	chr19	14029985	14029985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaaggctggccgagccGtggatgtcgctgaattgccc	13	14	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:14029985G>A	uc002mxo.2	+	11	1491	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M	CC2D1A_uc002mxn.2_Missense_Mutation_p.V297M|CC2D1A_uc002mxp.2_Missense_Mutation_p.V398M|CC2D1A_uc010dzh.2_Silent_p.P11P|CC2D1A_uc002mxq.1_Missense_Mutation_p.V43M	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	398					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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGCCGAGCCGTGGATGTCGC	0.711													A	14029985	G	A	14029985	3	1	248	1	0	0	0	0	1	0	0	0	2726	1145	40	1	1234	1	CC2D1A	19	14029985	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	780793	14029985	45098998	1540	123547											
IL27RA	9466	broad.mit.edu	37	chr19	14161599	14161599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacacagagtgtcaccctgCctgaccttccttggggtccc	9	16	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:14161599C>T	uc002mxx.2	+	11	1855	c.1432C>T	c.(1432-1434)CCT>TCT	p.P478S		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	478	Extracellular (Potential).|Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						TGTCACCCTGCCTGACCTTCC	0.488													T	14161599	C	T	14161599	3	4	248	1	0	0	0	0	1	0	0	0	7681	739	26	2	1474	2	IL27RA	19	14161599	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	131614	14161599	44967384	1541	123548											
OR7C1	26664	broad.mit.edu	37	chr19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-													caggacttcaagtagatcacAaaaaaagtgtggaatttcca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:14910413_14910413CA>C	uc010xnz.2	-	0	536	c.536_536TG>G	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTG	0.478													-	14910414	A	-	14910414	7	5	248	1	0	1	0	1	0	0	0	0	11217	130	5	0	429	0	OR7C1	19	14910414	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	748815	14910414	44218569	1542	123549											
CCDC105	126402	broad.mit.edu	37	chr19	15121966	15121966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctggtacgcccgcctgcCgctacccttgcaccgcaaag	10	19	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:15121966C>T	uc002nae.2	+	1	428	c.329C>T	c.(328-330)CCG>CTG	p.P110L	SLC1A6_uc010xod.1_5'Flank	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	110					microtubule cytoskeleton organization	microtubule				ovary(1)	1						GCCCGCCTGCCGCTACCCTTG	0.736													T	15121966	C	T	15121966	3	4	248	1	0	0	0	0	1	0	0	0	2740	652	23	1	331	1	CCDC105	19	15121966	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	211552	15121966	44007017	1543	123550											
CIB3	117286	broad.mit.edu	37	chr19	16280466	16280466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggcatgctgccaatgAgctcgtagggcaccttcaca	12	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:16280466A>C	uc002nds.2	-	3	173	c.173T>G	c.(172-174)CTC>CGC	p.L58R	CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	58							calcium ion binding			ovary(1)	1						GCTGCCAATGAGCTCGTAGGG	0.498													C	16280466	A	C	16280466	3	2	248	1	0	0	0	0	1	0	0	0	3422	304	11	5	406	5	CIB3	19	16280466	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1158500	16280466	42848517	1544	123551											
NWD1	284434	broad.mit.edu	37	chr19	16918919	16918919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgggacctgcaggcacGcaagtggaaattcgagatga	13	9	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:16918919G>A	uc002neu.3	+	18	4681	c.4259G>A	c.(4258-4260)CGC>CAC	p.R1420H	NWD1_uc002net.3_Missense_Mutation_p.R1285H|NWD1_uc002nev.3_Missense_Mutation_p.R1214H			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1420	WD 12.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CTGCAGGCACGCAAGTGGAAA	0.572													A	16918919	G	A	16918919	3	1	248	1	0	0	0	0	1	0	0	0	10781	1087	38	1	3908	1	NWD1	19	16918919	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	638453	16918919	42210064	1545	123552											
CPAMD8	27151	broad.mit.edu	37	chr19	17085950	17085950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatgccccaaggccacGggaagacagaggagcgccgg	17	11	0	3	rs145011766	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17085950G>A	uc002nfb.2	-	17	2200	c.2168C>T	c.(2167-2169)CCG>CTG	p.P723L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	676						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CCAAGGCCACGGGAAGACAGA	0.567													A	17085950	G	A	17085950	3	1	248	1	0	0	0	0	1	0	0	0	3795	1116	39	1	3734	1	CPAMD8	19	17085950	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	167031	17085950	42043033	1546	123553											
CPAMD8	27151	broad.mit.edu	37	chr19	17132959	17132959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcctccacgcccgcgCgaaaaacagagggagctgca	11	14	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17132959C>T	uc002nfb.2	-	2	298	c.266G>A	c.(265-267)CGC>CAC	p.R89H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	42						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CACGCCCGCGCGAAAAACAGA	0.597													T	17132959	C	T	17132959	3	4	248	1	0	0	0	0	1	0	0	0	3795	768	27	1	5696	1	CPAMD8	19	17132959	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	47009	17132959	41996024	1547	123554											
C19orf62	29086	broad.mit.edu	37	chr19	17387324	17387324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagaaaactgagcttcCggtcacagagaacgtgcaga	11	11	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17387324C>T	uc002nfu.2	+	7	708	c.590C>T	c.(589-591)CCG>CTG	p.P197L	C19orf62_uc010xpl.1_Missense_Mutation_p.P122L|C19orf62_uc002nfv.2_Missense_Mutation_p.P197L|C19orf62_uc010ean.2_RNA|C19orf62_uc002nfw.2_Missense_Mutation_p.P197L	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	mediator of Rap80 interactions and targeting 40	197	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						ACTGAGCTTCCGGTCACAGAG	0.602													T	17387324	C	T	17387324	3	4	248	1	0	0	0	0	1	0	0	0	1944	652	23	1	612	1	C19orf62	19	17387324	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	254365	17387324	41741659	1548	123555											
JAK3	3718	broad.mit.edu	37	chr19	17950336	17950336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcactgccaccccatctAcgtgcagccccccatcccag	8	20	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17950336A>G	uc002nhn.3	-	10	1491	c.1391T>C	c.(1390-1392)GTA>GCA	p.V464A	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.V464A|JAK3_uc010xpx.1_Missense_Mutation_p.V464A	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	464	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			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CACCCCATCTACGTGCAGCCC	0.632		2	Mis		acute megakaryocytic leukemia|								G	17950336	A	G	17950336	3	3	248	1	0	0	0	0	1	0	0	0	7939	391	14	3	2043	3	JAK3	19	17950336	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	563012	17950336	41178647	1549	123556											
SLC5A5	6528	broad.mit.edu	37	chr19	17994765	17994765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgagggtcctgccatcgtCggctgcccgctgcgtggctc	14	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17994765C>T	uc002nhr.3	+	12	1783	c.1436C>T	c.(1435-1437)TCG>TTG	p.S479L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	479	Extracellular (Potential).				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			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGCCATCGTCGGCTGCCCGC	0.697													T	17994765	C	T	17994765	3	4	248	1	0	0	0	0	1	0	0	0	14668	893	31	1	1482	1	SLC5A5	19	17994765	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	44429	17994765	41134218	1550	123557											
KIAA1683	80726	broad.mit.edu	37	chr19	18375782	18375782	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcattgatggctgggcAcgtgtggctccgttgtctcc	15	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18375782A>G	uc002nin.2	-	3	2784	c.2568T>C	c.(2566-2568)CGT>CGC	p.R856R	KIAA1683_uc010ebn.2_Silent_p.R856R|KIAA1683_uc010xqe.1_Silent_p.R810R	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	856						mitochondrion				ovary(2)	2						ATGGCTGGGCACGTGTGGCTC	0.652													G	18375782	A	G	18375782	2	3	248	1	0	0	0	0	0	0	0	1	8251	146	6	3		3	KIAA1683	19	18375782	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	381017	18375782	40753201	1551	123558											
PGPEP1	54858	broad.mit.edu	37	chr19	18474214	18474215	+	Frame_Shift_Del	DEL	TT	TT	-													ggcttagatatctctgcgacTttacctactacacctctttg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18474214_18474215delTT	uc002nis.1	+	5	535_536	c.451_452delTT	c.(451-453)TTTfs	p.F151fs	PGPEP1_uc002nir.1_Intron|PGPEP1_uc002nit.1_Frame_Shift_Del_p.F74fs|PGPEP1_uc010xqg.1_Frame_Shift_Del_p.F74fs	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	151							cysteine-type peptidase activity				0						TCTCTGCGACTTTACCTACTAC	0.589													-	18474215	TT	-	18474214	7	5	248	1	0	1	0	1	0	0	0	0	11803	1609	56	0	469	0	PGPEP1	19	18474214	Frame_Shift_Del	DEL	TT	TCGA-FP-A4BE-01A-12D-A24D-08	98432	18474214	40654769	1552	123559											
ELL	8178	broad.mit.edu	37	chr19	18561309	18561309	+	Frame_Shift_Del	DEL	G	G	-													ggggtgtctgctggggctccGggggtggcatgggtggcagg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18561308_18561308CG>C	uc002njh.3	-	7	1516	c.1444_1444CG>G	c.(1444-1446)ggafs	p.G482fs	ELL_uc010ebq.3_Frame_Shift_Del_p.G425fs|ELL_uc002njg.3_Frame_Shift_Del_p.G349fs	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	482					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCTGGGGCTCCGGGGGTGGCA	0.657			T	MLL	AL								-	18561309	G	-	18561309	7	5	248	1	0	1	0	1	0	0	0	0	5062	1103	39	0	442	0	ELL	19	18561309	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	87095	18561309	40567674	1553	123560											
UPF1	5976	broad.mit.edu	37	chr19	18967091	18967092	+	Frame_Shift_Del	DEL	AG	AG	-													cgggccttgaagcgcaccgcAgagagagagctgctgatggt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18967090_18967091CAG>C	uc002nkg.3	+	12	2113_2114	c.1838_1839CAG>C	c.(1837-1839)gcafs	p.A613fs	UPF1_uc002nkf.3_Frame_Shift_Del_p.A602fs	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	613					DNA repair|DNA replication|cell cycle|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|DNA binding|RNA binding|chromatin binding|protein 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						AAGCGCACCGCAGAGAGAGAGC	0.594													-	18967092	AG	-	18967091	7	5	248	1	0	1	0	1	0	0	0	0	17000	175	7	0	1856	0	UPF1	19	18967091	Frame_Shift_Del	DEL	AG	TCGA-FP-A4BE-01A-12D-A24D-08	405782	18967091	40161892	1554	123561											
UPF1	5976	broad.mit.edu	37	chr19	18968240	18968240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtggtgctgggcatcCggcccatccgcctgcaggtc	15	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18968240C>T	uc002nkg.2	+	15	2388	c.2113C>T	c.(2113-2115)CGG>TGG	p.R705W	UPF1_uc002nkf.2_Missense_Mutation_p.R694W|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	705					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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCTGGGCATCCGGCCCATCCG	0.647													T	18968240	C	T	18968240	3	4	248	1	0	0	0	0	1	0	0	0	17000	643	23	1	2138	1	UPF1	19	18968240	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1149	18968240	40160743	1555	123562											
UPF1	5976	broad.mit.edu	37	chr19	18975059	18975059	+	Frame_Shift_Del	DEL	G	G	-													gtctatgatcggagcagccaGggtgagtcgctcagcagggg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18975059delG	uc002nkg.2	+	20	3164	c.2889delG	c.(2887-2889)CAGfs	p.Q963fs	UPF1_uc002nkf.2_Frame_Shift_Del_p.Q952fs|UPF1_uc002nkh.2_Frame_Shift_Del_p.Q207fs	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	963					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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGAGCAGCCAGGGTGAGTCGC	0.612													-	18975059	G	-	18975059	7	5	248	1	0	1	0	1	0	0	0	0	17000	1014	35	0	2934	0	UPF1	19	18975059	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	6819	18975059	40153924	1556	123563											
TMEM161A	54929	broad.mit.edu	37	chr19	19245617	19245617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttacagagcagccagcgcGcgaaggagcagtgtggcgcc	16	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19245617G>A	uc002nlg.2	-	2	113	c.83C>T	c.(82-84)GCG>GTG	p.A28V	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.A28V|TMEM161A_uc002nli.2_Missense_Mutation_p.A28V|TMEM161A_uc002nlj.2_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	28					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)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CAGCCAGCGCGCGAAGGAGCA	0.706													A	19245617	G	A	19245617	3	1	248	1	0	0	0	0	1	0	0	0	16073	1087	38	1	1400	1	TMEM161A	19	19245617	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	270558	19245617	39883366	1557	123564											
NCAN	1463	broad.mit.edu	37	chr19	19359520	19359520	+	Frame_Shift_Del	DEL	C	C	-													ctgtcccagtgctctgtggtCcccctccggcagtggagaat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19359520delC	uc002nlz.2	+	14	3748	c.3649delC	c.(3649-3651)CCCfs	p.P1217fs	NCAN_uc002nma.2_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1217	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GCTCTGTGGTCCCCCTCCGGC	0.448													-	19359520	C	-	19359520	7	5	248	1	0	1	0	1	0	0	0	0	10204	855	30	0	3699	0	NCAN	19	19359520	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	113903	19359520	39769463	1558	123565											
TM6SF2	53345	broad.mit.edu	37	chr19	19379464	19379464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtgcagcgggttagcGcccggggctggctgaagacc	19	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19379464G>A	uc002nmd.1	-	6	634	c.584C>T	c.(583-585)GCG>GTG	p.A195V	HAPLN4_uc002nmc.2_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	195						integral to membrane					0			Epithelial(12;0.0151)			GCGGGTTAGCGCCCGGGGCTG	0.587													A	19379464	G	A	19379464	3	1	248	1	0	0	0	0	1	0	0	0	15970	1087	38	1	569	1	TM6SF2	19	19379464	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	19944	19379464	39749519	1559	123566											
GMIP	51291	broad.mit.edu	37	chr19	19745506	19745506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaaggggatcacgggctCggtgagctgggggtggaacg	22	6	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19745506C>T	uc002nnd.2	-	18	2011	c.1894G>A	c.(1894-1896)GAG>AAG	p.E632K	GMIP_uc010xrb.1_Missense_Mutation_p.E606K|GMIP_uc010xrc.1_Missense_Mutation_p.E603K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	632	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						ATCACGGGCTCGGTGAGCTGG	0.672													T	19745506	C	T	19745506	3	4	248	1	0	0	0	0	1	0	0	0	6491	893	31	1	1034	1	GMIP	19	19745506	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	366042	19745506	39383477	1560	123567											
ZNF99	7652	broad.mit.edu	37	chr19	22940118	22940118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttccagtatgaattAtctcatgttttctaagggct	7	7	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:22940118A>G	uc010xrh.1	-	6	2213	c.2213T>C	c.(2212-2214)ATA>ACA	p.I738T		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTATGAATTATCTCATGTTT	0.343													G	22940118	A	G	22940118	3	3	248	1	0	0	0	0	1	0	0	0	18201	449	16	3	907	3	ZNF99	19	22940118	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	3194612	22940118	36188865	1561	123568											
PLEKHF1	79156	broad.mit.edu	37	chr19	30165261	30165261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctgccctcacgaggcGccaccactgccgcaagtgcg	10	18	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:30165261G>A	uc002nsh.3	+	2	617	c.515G>A	c.(514-516)CGC>CAC	p.R172H	PLEKHF1_uc002nsi.3_Missense_Mutation_p.R257H	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	172	FYVE-type.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	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)			CTCACGAGGCGCCACCACTGC	0.716													A	30165261	G	A	30165261	3	1	248	1	0	0	0	0	1	0	0	0	12066	1087	38	1	517	1	PLEKHF1	19	30165261	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7225143	30165261	28963722	1562	123569											
CCNE1	898	broad.mit.edu	37	chr19	30313457	30313457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcacttcaggggcgtcGctgatgaagatgcacacaac	12	10	1	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:30313457G>A	uc002nsn.2	+	11	1240	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T	CCNE1_uc002nso.2_Missense_Mutation_p.A338T|CCNE1_uc002nsp.2_Missense_Mutation_p.A100T	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	353					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			lung(2)	2	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)			CAGGGGCGTCGCTGATGAAGA	0.483													A	30313457	G	A	30313457	3	1	248	1	0	0	0	0	1	0	0	0	2920	1087	38	1	1095	1	CCNE1	19	30313457	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	148196	30313457	28815526	1563	123570											
ZNF536	9745	broad.mit.edu	37	chr19	30934952	30934952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcccttcaagtgcccGtactgcgaccacagggcggc	13	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:30934952G>A	uc002nsu.1	+	2	621	c.483G>A	c.(481-483)CCG>CCA	p.P161P	ZNF536_uc010edd.1_Silent_p.P161P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	161	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TCAAGTGCCCGTACTGCGACC	0.657													A	30934952	G	A	30934952	2	1	248	1	0	0	0	0	0	0	0	1	17971	1132	40	1		1	ZNF536	19	30934952	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	621495	30934952	28194031	1564	123571											
SLC7A10	56301	broad.mit.edu	37	chr19	33703794	33703794	+	Frame_Shift_Del	DEL	G	G	-													agcacccgggaggctgtggtGggggggatgcagttggggaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:33703793_33703793TG>T	uc002num.2	-	2	619	c.472_472CA>A	c.(472-474)accfs	p.T158fs	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Frame_Shift_Del_p.T131fs	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	158					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)					GAGGCTGTGGTGGGGGGGATG	0.637													-	33703794	G	-	33703794	7	5	248	1	0	1	0	1	0	0	0	0	14693	1335	47	0	1136	0	SLC7A10	19	33703794	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	2768842	33703794	25425189	1565	123572											
ATP4A	495	broad.mit.edu	37	chr19	36053482	36053482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtgccccgtggtggcCgcagtgcgttgggcccatcc	17	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36053482C>T	uc002oal.1	-	4	304	c.275G>A	c.(274-276)CGG>CAG	p.R92Q		NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	92	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	CCGTGGTGGCCGCAGTGCGTT	0.711													T	36053482	C	T	36053482	3	4	248	1	0	0	0	0	1	0	0	0	1145	652	23	1	2908	1	ATP4A	19	36053482	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	2349688	36053482	23075501	1566	123573											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C													ctagcagatgtggctcctacINSccccccaaagacccctgccc					rs60207923	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			C	36210765	-	C	36210764	7	5	248	1	0	1	1	0	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	157282	36210764	22918219	1567	123574											
MLL4	9757	broad.mit.edu	37	chr19	36210893	36210893	+	Frame_Shift_Del	DEL	C	C	-													ccgggcatgtgagccctccaCcccccggcggtctcggggac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36210893delC	uc010eei.2	+	3	644	c.644delC	c.(643-645)ACCfs	p.T215fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	215					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCCTCCACCCCCCGGCGG	0.687													-	36210893	C	-	36210893	7	5	248	1	0	1	0	1	0	0	0	0	9623	507	18	0	654	0	MLL4	19	36210893	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	129	36210893	22918090	1568	123575											
MLL4	9757	broad.mit.edu	37	chr19	36218396	36218396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgtacacctgcggacCgtgtgctggggcagcgcagc	17	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36218396C>A	uc010eei.2	+	17	4175	c.4175C>A	c.(4174-4176)CCG>CAG	p.P1392Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1392	PHD-type 3.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCTGCGGACCGTGTGCTGGG	0.637													A	36218396	C	A	36218396	3	1	248	1	0	0	0	0	1	0	0	0	9623	652	23	5	4237	5	MLL4	19	36218396	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7503	36218396	22910587	1569	123576											
CLIP3	25999	broad.mit.edu	37	chr19	36515405	36515405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgtgaccttggggagggCgcaagatagtggcactgcct	16	9	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36515405C>T	uc010eeq.1	-	6	1093	c.811G>A	c.(811-813)GCC>ACC	p.A271T	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A271T	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	271					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			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGGGGAGGGCGCAAGATAGT	0.617													T	36515405	C	T	36515405	3	4	248	1	0	0	0	0	1	0	0	0	3534	768	27	1	864	1	CLIP3	19	36515405	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	297009	36515405	22613578	1570	123577											
HKR1	284459	broad.mit.edu	37	chr19	37853630	37853630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtgggcgaggctttacGtggaagtcaaacctgatcac	13	8	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:37853630G>A	uc002ogb.2	+	6	1202	c.933G>A	c.(931-933)ACG>ACA	p.T311T	HKR1_uc002ofx.2_Silent_p.T27T|HKR1_uc002ofy.2_Silent_p.T27T|HKR1_uc002oga.2_Silent_p.T293T|HKR1_uc010xto.1_Silent_p.T293T|HKR1_uc002ogc.2_Silent_p.T292T|HKR1_uc010xtp.1_Silent_p.T250T|HKR1_uc002ogd.2_Silent_p.T250T	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	311	C2H2-type 1.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGCTTTACGTGGAAGTCAA	0.507													A	37853630	G	A	37853630	2	1	248	1	0	0	0	0	0	0	0	1	7194	1132	40	1		1	HKR1	19	37853630	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1338225	37853630	21275353	1571	123578											
YIF1B	90522	broad.mit.edu	37	chr19	38800114	38800114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatggccatgttggacacCgggtcagccaggaaggctgc	15	12	1	0	rs149031198		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:38800114C>T	uc002ohz.2	-	2	277	c.228G>A	c.(226-228)CCG>CCA	p.P76P	YIF1B_uc002ohw.2_Silent_p.P45P|YIF1B_uc002ohx.2_Silent_p.P61P|YIF1B_uc010xtx.1_Silent_p.P59P|YIF1B_uc010xty.1_Silent_p.P45P|YIF1B_uc002oia.2_Silent_p.P73P|YIF1B_uc002ohy.2_Silent_p.P73P|YIF1B_uc002oib.2_Silent_p.P73P	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	76	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTTGGACACCGGGTCAGCCA	0.682													T	38800114	C	T	38800114	2	4	248	1	0	0	0	0	0	0	0	1	17473	639	23	1		1	YIF1B	19	38800114	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	946484	38800114	20328869	1572	123579											
MAP4K1	11184	broad.mit.edu	37	chr19	39101768	39101768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagttgtggaaggcagCcgaccttgggaagaagaagc	16	6	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39101768C>T	uc002oix.1	-	11	841	c.733G>A	c.(733-735)GCT>ACT	p.A245T	MAP4K1_uc002oiy.1_Missense_Mutation_p.A245T|MAP4K1_uc010xug.1_Intron	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	245	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAAGGCAGCCGACCTTGGG	0.582													T	39101768	C	T	39101768	3	4	248	1	0	0	0	0	1	0	0	0	9259	739	26	2	1918	2	MAP4K1	19	39101768	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	301654	39101768	20027215	1573	123580											
CAPN12	147968	broad.mit.edu	37	chr19	39232520	39232520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcctgtcatccaccaCgacgtccatccagcggccaa	10	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39232520C>T	uc002ojd.1	-	4	766	c.457G>A	c.(457-459)GTG>ATG	p.V153M		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	153	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCATCCACCACGACGTCCATC	0.647													T	39232520	C	T	39232520	3	4	248	1	0	0	0	0	1	0	0	0	2625	536	19	1	1774	1	CAPN12	19	39232520	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	130752	39232520	19896463	1574	123581											
HNRNPL	3191	broad.mit.edu	37	chr19	39331172	39331172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagggggctgcctctggCgtttgttggggttgctgcca	19	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39331172C>T	uc010xul.1	-	7	919	c.908G>A	c.(907-909)CGC>CAC	p.R303H	HNRNPL_uc010ege.1_5'Flank|HNRNPL_uc002ojj.1_5'Flank|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_5'UTR|HNRNPL_uc002ojl.2_5'UTR|HNRNPL_uc010xum.1_Missense_Mutation_p.R170H|HNRNPL_uc002ojp.1_5'Flank|HNRNPL_uc010xun.1_Missense_Mutation_p.A11T	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	303					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTGCCTCTGGCGTTTGTTGGG	0.622													T	39331172	C	T	39331172	3	4	248	1	0	0	0	0	1	0	0	0	7270	768	27	1	889	1	HNRNPL	19	39331172	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	98652	39331172	19797811	1575	123582											
PAK4	10298	broad.mit.edu	37	chr19	39669209	39669209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcatgcgccagaaccGcaccagatgaggcccagcgc	11	18	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39669209G>A	uc002okj.1	+	11	2227	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	PAK4_uc002okl.1_Missense_Mutation_p.R589H|PAK4_uc002okn.1_Missense_Mutation_p.R589H|PAK4_uc002okm.1_Missense_Mutation_p.R436H|PAK4_uc002oko.1_Missense_Mutation_p.R436H|PAK4_uc002okp.1_Missense_Mutation_p.R499H	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	589					cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCAGAACCGCACCAGATGA	0.716													A	39669209	G	A	39669209	3	1	248	1	0	0	0	0	1	0	0	0	11403	1087	38	1	1796	1	PAK4	19	39669209	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	338037	39669209	19459774	1576	123583											
SUPT5H	6829	broad.mit.edu	37	chr19	39964942	39964942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaccagcccagccccaGcccccagagctaccaccagg	7	21	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39964942G>A	uc002olo.3	+	27	2899	c.2720G>A	c.(2719-2721)AGC>AAC	p.S907N	SUPT5H_uc002olp.3_Missense_Mutation_p.S907N|SUPT5H_uc002olq.3_Missense_Mutation_p.S903N|SUPT5H_uc002oln.3_Missense_Mutation_p.S907N|SUPT5H_uc002olr.3_Missense_Mutation_p.S907N|SUPT5H_uc002ols.1_Missense_Mutation_p.S530N	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	907	CTR2-6.|10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCAGCCCCAGCCCCCAGAGC	0.617											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39964942	G	A	39964942	3	1	248	1	0	0	0	0	1	0	0	0	15396	971	34	2	2822	2	SUPT5H	19	39964942	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	295733	39964942	19164041	1577	123584											
DLL3	10683	broad.mit.edu	37	chr19	39997971	39997971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccggctacatgggagcGcggtgtgagttcccagtgca	15	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39997971G>A	uc002olx.2	+	7	1444	c.1386G>A	c.(1384-1386)GCG>GCA	p.A462A	DLL3_uc002olw.2_Silent_p.A462A	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	462	EGF-like 6.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			ACATGGGAGCGCGGTGTGAGT	0.756													A	39997971	G	A	39997971	2	1	248	1	0	0	0	0	0	0	0	1	4567	1074	38	1		1	DLL3	19	39997971	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	33029	39997971	19131012	1578	123585											
DYRK1B	9149	broad.mit.edu	37	chr19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-													acgaccaaggtatcggggctGggggggtaactgggccccgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:40316611_40316611TG>T	uc002omj.3	-	10	1914	c.1634_1634CA>A	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.Q517fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.Q505fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	545					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)			GTATCGGGGCTGGGGGGGTAA	0.687													-	40316612	G	-	40316612	7	5	248	1	0	1	0	1	0	0	0	0	4855	1357	47	0	260	0	DYRK1B	19	40316612	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	318641	40316612	18812371	1579	123586											
FCGBP	8857	broad.mit.edu	37	chr19	40392595	40392595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatacagccctcgctccccgGcgggcaggtgggcggcggca	17	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:40392595G>A	uc002omp.3	-	16	7917	c.7909C>T	c.(7909-7911)CCG>TCG	p.P2637S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2637	VWFD 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			TCGCTCCCCGGCGGGCAGGTG	0.662													A	40392595	G	A	40392595	3	1	248	1	0	0	0	0	1	0	0	0	5778	1203	42	2	8392	2	FCGBP	19	40392595	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	75983	40392595	18736388	1580	123587											
AKT2	208	broad.mit.edu	37	chr19	40762855	40762855	+	Frame_Shift_Del	DEL	G	G	-													gctacggagaagttgtttaaGgggggtagagtctgatcagg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:40762854_40762854AG>A	uc002onf.3	-	2	453	c.154_154CT>T	c.(154-156)ttafs	p.L52fs	AKT2_uc010egs.3_Frame_Shift_Del_p.L52fs|AKT2_uc010xvj.2_5'UTR|AKT2_uc010egt.3_5'UTR|AKT2_uc010egu.2_5'UTR|AKT2_uc010xvk.1_Frame_Shift_Del_p.L52fs	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	52	PH.				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)			AAGTTGTTTAAGGGGGGTAGA	0.572			A		"ovarian, pancreatic "								-	40762855	G	-	40762855	7	5	248	1	0	1	0	1	0	0	0	0	480	987	35	0	1340	0	AKT2	19	40762855	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	370260	40762855	18366128	1581	123588											
SPTBN4	57731	broad.mit.edu	37	chr19	41071343	41071343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggacgtgtcatcagTggaggtgctcatgaactacc	13	10	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41071343T>C	uc002ony.2	+	28	6016	c.5930T>C	c.(5929-5931)GTG>GCG	p.V1977A	SPTBN4_uc002onz.2_Missense_Mutation_p.V1977A|SPTBN4_uc010egx.2_Missense_Mutation_p.V720A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1977	Spectrin 17.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTCATCAGTGGAGGTGCTC	0.637													C	41071343	T	C	41071343	3	2	248	1	0	0	0	0	1	0	0	0	15120	1696	59	3	6130	3	SPTBN4	19	41071343	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	308488	41071343	18057640	1582	123589											
SHKBP1	92799	broad.mit.edu	37	chr19	41089528	41089528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagaagttccccttgcGcatgaaagacaacgacctcc	9	13	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41089528G>A	uc002oob.2	+	12	1119	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	SHKBP1_uc002ooc.2_Missense_Mutation_p.R332H|SHKBP1_uc002ood.2_Missense_Mutation_p.R357H|SHKBP1_uc010xvl.1_Missense_Mutation_p.R280H|SHKBP1_uc002ooe.2_Missense_Mutation_p.R194H|SHKBP1_uc002oof.2_Missense_Mutation_p.R194H|SHKBP1_uc010xvm.1_Missense_Mutation_p.R194H|SHKBP1_uc010xvn.1_Missense_Mutation_p.R235H	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	357	WD 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCTTGCGCATGAAAGAC	0.622													A	41089528	G	A	41089528	3	1	248	1	0	0	0	0	1	0	0	0	14284	1087	38	1	1116	1	SHKBP1	19	41089528	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	18185	41089528	18039455	1583	123590											
AXL	558	broad.mit.edu	37	chr19	41727914	41727914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggatgctgtcccccTggccacggctccaggtcacg	12	17	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41727914T>C	uc010ehj.2	+	4	729	c.539T>C	c.(538-540)CTG>CCG	p.L180P	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.L180P|AXL_uc010ehk.2_Missense_Mutation_p.L180P	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	180	Ig-like C2-type 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GCTGTCCCCCTGGCCACGGCT	0.677													C	41727914	T	C	41727914	3	2	248	1	0	0	0	0	1	0	0	0	1238	1580	55	3	553	3	AXL	19	41727914	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	638386	41727914	17401069	1584	123591											
BCKDHA	593	broad.mit.edu	37	chr19	41916544	41916544	+	Frame_Shift_Del	DEL	C	C	-													ctctgctctcttccccagcaCccccccaggcagcagcagca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41916544delC	uc002oqq.2	+	2	140	c.111delC	c.(109-111)CACfs	p.H37fs	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Frame_Shift_Del_p.H71fs|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Frame_Shift_Del_p.H37fs|BCKDHA_uc010xvz.1_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	37					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				0						TTCCCCAGCACCCCCCCAGGC	0.567													-	41916544	C	-	41916544	7	5	248	1	0	1	0	1	0	0	0	0	1359	506	18	0	117	0	BCKDHA	19	41916544	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	188630	41916544	17212439	1585	123592											
BCKDHA	593	broad.mit.edu	37	chr19	41928266	41928266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctgagcagtatcgcggcGatggcattggtatgggctct	14	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41928266G>A	uc002oqq.2	+	6	873	c.844G>A	c.(844-846)GAT>AAT	p.D282N	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.D316N|BCKDHA_uc002oqp.1_Missense_Mutation_p.D174N|BCKDHA_uc002oqr.2_Missense_Mutation_p.D282N|BCKDHA_uc010xvz.1_Missense_Mutation_p.D260N	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	282					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				0						GTATCGCGGCGATGGCATTGG	0.612													A	41928266	G	A	41928266	3	1	248	1	0	0	0	0	1	0	0	0	1359	1058	37	1	866	1	BCKDHA	19	41928266	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	11722	41928266	17200717	1586	123593											
CEACAM3	1084	broad.mit.edu	37	chr19	42300612	42300612	+	Frame_Shift_Del	DEL	G	G	-													gagcaggcagcagagaccatGgggcccccctcagcctctcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42300612delG	uc002orn.1	+	1	79	c.3delG	c.(1-3)ATGfs	p.M1fs	CEACAM3_uc010eia.1_Frame_Shift_Del_p.M1fs|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	1						integral to membrane				skin(1)	1						CAGAGACCATGGGGCCCCCCT	0.597													-	42300612	G	-	42300612	7	5	248	1	0	1	0	1	0	0	0	0	3193	1348	47	0	5	0	CEACAM3	19	42300612	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	372346	42300612	16828371	1587	123594											
ATP1A3	478	broad.mit.edu	37	chr19	42489287	42489287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgccagggtggcgataCggcccatgacagtgcggtcg	16	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42489287C>T	uc002osg.2	-	8	930	c.776G>A	c.(775-777)CGT>CAT	p.R259H	ATP1A3_uc010xwf.1_Missense_Mutation_p.R270H|ATP1A3_uc010xwg.1_Missense_Mutation_p.R229H|ATP1A3_uc010xwh.1_Missense_Mutation_p.R272H|ATP1A3_uc002osh.2_Missense_Mutation_p.R259H	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	259	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGTGGCGATACGGCCCATGAC	0.662													T	42489287	C	T	42489287	3	4	248	1	0	0	0	0	1	0	0	0	1130	536	19	1	2329	1	ATP1A3	19	42489287	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	188675	42489287	16639696	1588	123595											
TMEM145	284339	broad.mit.edu	37	chr19	42827923	42827923	+	Frame_Shift_Del	DEL	C	C	-													ttcacggagctcttctccatCcccccgcccgccacctccgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42827922_42827922TC>T	uc002otk.1	+	13	1434	c.1382_1382TC>T	c.(1381-1383)atcfs	p.I461fs	MEGF8_uc002otl.4_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	461						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)				CTCTTCTCCATCCCCCCGCCC	0.706													-	42827923	C	-	42827923	7	5	248	1	0	1	0	1	0	0	0	0	16056	845	30	0	1437	0	TMEM145	19	42827923	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	338636	42827923	16301060	1589	123596											
MEGF8	1954	broad.mit.edu	37	chr19	42838217	42838217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctttaacgcctcatTccgcttctccctgtgcccgg	10	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42838217T>C	uc002otl.3	+	3	1045	c.410T>C	c.(409-411)TTC>TCC	p.F137S	MEGF8_uc002otm.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	137	Extracellular (Potential).|CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				AACGCCTCATTCCGCTTCTCC	0.662													C	42838217	T	C	42838217	3	2	248	1	0	0	0	0	1	0	0	0	9463	1783	62	3	420	3	MEGF8	19	42838217	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	10294	42838217	16290766	1590	123597											
PSG3	5671	broad.mit.edu	37	chr19	43243066	43243066	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatctactacgtatgaTgtaatgtaatggtagaggtc	10	6	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:43243066T>C	uc002oue.2	-	2	372	c.240A>G	c.(238-240)ACA>ACG	p.T80T	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.T102T	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	80	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CTACGTATGATGTAATGTAAT	0.438													C	43243066	T	C	43243066	2	2	248	1	0	0	0	0	0	0	0	1	12656	1451	51	3		3	PSG3	19	43243066	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	404849	43243066	15885917	1591	123598											
ZNF428	126299	broad.mit.edu	37	chr19	44112181	44112183	+	In_Frame_Del	DEL	TCC	TCC	-													gatcgtcagtggtctcctctTcctcctcctcctcatcttct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44112180_44112182TTCC>T	uc002oxa.3	-	2	589_591	c.154_156GGAA>A	c.(154-156)gaa>A	p.E54del	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	54	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				TGGTctcctcttcctcctcctcc	0.616													-	44112183	TCC	-	44112181	7	5	248	1	0	1	0	1	0	0	0	0	17898	1783	62	0	415	0	ZNF428	19	44112181	In_Frame_Del	DEL	TCC	TCGA-FP-A4BE-01A-12D-A24D-08	869115	44112181	15016802	1592	123599											
ZNF223	7766	broad.mit.edu	37	chr19	44570671	44570671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtccatactggagagaaAcctttcaaatgtgaacaatg	9	7	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44570671A>G	uc002oyf.1	+	5	943	c.690A>G	c.(688-690)AAA>AAG	p.K230K	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				CTGGAGAGAAACCTTTCAAAT	0.413													G	44570671	A	G	44570671	2	3	248	1	0	0	0	0	0	0	0	1	17774	40	2	3		3	ZNF223	19	44570671	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	458490	44570671	14558312	1593	123600											
ZNF223	7766	broad.mit.edu	37	chr19	44571426	44571426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcattatttttaaatgacaCgtaagtgttgtacatattta	5	4	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44571426C>T	uc002oyf.1	+	5	1698	c.1445C>T	c.(1444-1446)ACG>ATG	p.T482M	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				ttaaatgacacgtaagtgttg	0.169													T	44571426	C	T	44571426	3	4	248	1	0	0	0	0	1	0	0	0	17774	536	19	1	1459	1	ZNF223	19	44571426	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	755	44571426	14557557	1594	123601											
ZNF284	342909	broad.mit.edu	37	chr19	44590277	44590277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggcatttagtcagaacTcacaactgcaaactcatcag	7	10	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44590277T>C	uc002oyg.1	+	5	862	c.646T>C	c.(646-648)TCA>CCA	p.S216P	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	216	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TAGTCAGAACTCACAACTGCA	0.413													C	44590277	T	C	44590277	3	2	248	1	0	0	0	0	1	0	0	0	17818	1551	54	3	660	3	ZNF284	19	44590277	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	18851	44590277	14538706	1595	123602											
ZNF229	7772	broad.mit.edu	37	chr19	44933612	44933612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtgctggtgtttgtgCagtgcagacttggcacagaa	14	6	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44933612C>T	uc002oze.1	-	6	1778	c.1344G>A	c.(1342-1344)CTG>CTA	p.L448L	ZNF229_uc010ejk.1_Silent_p.L102L|ZNF229_uc010ejl.1_Silent_p.L442L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	448	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				GGTGTTTGTGCAGTGCAGACT	0.552													T	44933612	C	T	44933612	2	4	248	1	0	0	0	0	0	0	0	1	17779	697	25	2		2	ZNF229	19	44933612	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	343335	44933612	14195371	1596	123603											
CLPTM1	1209	broad.mit.edu	37	chr19	45477833	45477833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggctgctacgagcacttTgctgagctcgatatcccaca	10	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:45477833T>C	uc002pai.2	+	4	462	c.447T>C	c.(445-447)TTT>TTC	p.F149F	CLPTM1_uc010ejv.1_Silent_p.F47F|CLPTM1_uc010xxf.1_Silent_p.F47F|CLPTM1_uc010xxg.1_Silent_p.F135F	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	149	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACGAGCACTTTGCTGAGCTCG	0.582													C	45477833	T	C	45477833	2	2	248	1	0	0	0	0	0	0	0	1	3554	1809	63	3		3	CLPTM1	19	45477833	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	544221	45477833	13651150	1597	123604											
GPR4	2828	broad.mit.edu	37	chr19	46094297	46094297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccgccacacagttgagGctggtgaaagccagtgagct	15	10	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46094297G>A	uc002pcm.2	-	2	1773	c.828C>T	c.(826-828)AGC>AGT	p.S276S	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	276	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CACAGTTGAGGCTGGTGAAAG	0.642													A	46094297	G	A	46094297	2	1	248	1	0	0	0	0	0	0	0	1	6694	1194	42	2		2	GPR4	19	46094297	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	616464	46094297	13034686	1598	123605											
GPR4	2828	broad.mit.edu	37	chr19	46095110	46095110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgtggcagccctcccaCgtgtggttgcccatggtggg	14	14	0	0	rs138937906	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46095110C>T	uc002pcm.2	-	2	960	c.15G>A	c.(13-15)ACG>ACA	p.T5T	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	5	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGCCCTCCCACGTGTGGTTGC	0.692													T	46095110	C	T	46095110	2	4	248	1	0	0	0	0	0	0	0	1	6694	523	19	1		1	GPR4	19	46095110	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	813	46095110	13033873	1599	123606											
DMWD	1762	broad.mit.edu	37	chr19	46288999	46288999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcacctcgtggatgcgCgggcacagcgcagtgcccag	17	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46288999C>T	uc002pdj.1	-	3	1801	c.1755G>A	c.(1753-1755)CCG>CCA	p.P585P	DMWD_uc002pdk.1_Silent_p.P585P|DMWD_uc010eko.1_Silent_p.P270P	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	585					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGTGGATGCGCGGGCACAGCG	0.682													T	46288999	C	T	46288999	2	4	248	1	0	0	0	0	0	0	0	1	4593	755	27	1		1	DMWD	19	46288999	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	193889	46288999	12839984	1600	123607											
PPP5C	5536	broad.mit.edu	37	chr19	46857124	46857124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgagtgctatggctacGcgctgggagacgccacgcgg	16	12	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46857124G>A	uc002pem.2	+	2	301	c.241G>A	c.(241-243)GCG>ACG	p.A81T	PPP5C_uc010xya.1_5'UTR|PPP5C_uc002pen.2_Missense_Mutation_p.A81T	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	81	TPR 2.				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			lung(1)|pancreas(1)	2		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)		CTATGGCTACGCGCTGGGAGA	0.597													A	46857124	G	A	46857124	3	1	248	1	0	0	0	0	1	0	0	0	12406	1087	38	1	247	1	PPP5C	19	46857124	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	568125	46857124	12271859	1601	123608											
CALM3	808	broad.mit.edu	37	chr19	47111800	47111800	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaagatgaaggacacAgacagtgaggaggagatccg	15	7	0	6			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:47111800A>C	uc002pew.2	+	4	420	c.240A>C	c.(238-240)ACA>ACC	p.T80T	CALM3_uc010ekp.2_Silent_p.T44T|CALM3_uc010xyc.1_Silent_p.T80T	NM_005184	NP_005175	P62158	CALM_HUMAN	calmodulin 3	80					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			ovary(1)	1		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)	TGAAGGACACAGACAGTGAGG	0.577													C	47111800	A	C	47111800	2	2	248	1	0	0	0	0	0	0	0	1	2586	175	7	5		5	CALM3	19	47111800	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	254676	47111800	12017183	1602	123609											
FKRP	79147	broad.mit.edu	37	chr19	47259843	47259844	+	Frame_Shift_Ins	INS	-	-	GG													ggcaactgcgagcagctgcgINSgggggcagaggccggctcgg					rs140217866		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:47259842_47259843C>CGG	uc002pfn.2	+	3	1432_1433	c.1135_1136C>CGG	c.(1135-1137)cggfs	p.R379fs	FKRP_uc002pfp.2_Frame_Shift_Ins_p.R379fs|FKRP_uc021uwj.1_Frame_Shift_Ins_p.R379fs	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	379						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAGCAGCTGCGGGGGGCAGAG	0.658													GG	47259844	-	GG	47259843	7	5	248	1	0	1	1	0	0	0	0	0	5917	1116	39	0	1138	0	FKRP	19	47259843	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	148043	47259843	11869140	1603	123610											
MEIS3	56917	broad.mit.edu	37	chr19	47918126	47918127	+	Splice_Site	INS	-	-	G													tcgcacaggtcgtggacctgINSggggggcaccggggtactgg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:47918125_47918126T>TG	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		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)		GTCGTGGACCTGGGGGGGCACC	0.683													G	47918127	-	G	47918126	8	5	248	1	0	1	1	0	0	0	1	0	9469	1363	47	0		0	MEIS3	19	47918126	Splice_Site	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	658283	47918126	11210857	1604	123611											
EHD2	30846	broad.mit.edu	37	chr19	48244520	48244520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaactcagtgctggggcGcatctggaagctcagcgatg	13	13	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:48244520G>A	uc002phj.3	+	6	1713	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	EHD2_uc010xyu.1_Missense_Mutation_p.R352H|EHD2_uc010xyv.1_Missense_Mutation_p.R171H	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	488	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		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)		GTGCTGGGGCGCATCTGGAAG	0.642													A	48244520	G	A	48244520	3	1	248	1	0	0	0	0	1	0	0	0	4978	1087	38	1	1481	1	EHD2	19	48244520	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	326394	48244520	10884463	1605	123612											
CABP5	56344	broad.mit.edu	37	chr19	48537535	48537535	+	Frame_Shift_Del	DEL	G	G	-													gacaacctcagagatctcccGgggggtgagccgctccccca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:48537534_48537534CG>C	uc002phu.2	-	4	566	c.434_434CG>G	c.(433-435)cggfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	145	EF-hand 4.				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)		AGAGATCTCCCGGGGGGTGAG	0.597													-	48537535	G	-	48537535	7	5	248	1	0	1	0	1	0	0	0	0	2534	1115	39	0	96	0	CABP5	19	48537535	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	293015	48537535	10591448	1606	123613											
CCDC114	93233	broad.mit.edu	37	chr19	48801561	48801561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcatcgatcatgctgCtgtcgcaatgggccttggtg	15	9	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:48801561C>T	uc002pir.2	-	11	1849	c.1166G>A	c.(1165-1167)AGC>AAC	p.S389N	CCDC114_uc002piq.2_Missense_Mutation_p.S198N|CCDC114_uc002pio.2_Missense_Mutation_p.S426N|CCDC114_uc002pis.1_Missense_Mutation_p.S69N|CCDC114_uc002pit.1_Missense_Mutation_p.S426N	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	389										ovary(1)	1		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)		GATCATGCTGCTGTCGCAATG	0.622													T	48801561	C	T	48801561	3	4	248	1	0	0	0	0	1	0	0	0	2751	797	28	2	862	2	CCDC114	19	48801561	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	264026	48801561	10327422	1607	123614											
LMTK3	114783	broad.mit.edu	37	chr19	49005800	49005800	+	Frame_Shift_Del	DEL	G	G	-													agctcaggggacaggccctcGgggggccgctgggctcggag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49005799_49005799CG>C	uc002pjk.3	-	7	772	c.772_772CG>G	c.(772-774)gagfs	p.E258fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACAGGCCCTCGGGGGGCCGC	0.687													-	49005800	G	-	49005800	7	5	248	1	0	1	0	1	0	0	0	0	8860	1103	39	0	3734	0	LMTK3	19	49005800	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	204239	49005800	10123183	1608	123615											
FAM83E	54854	broad.mit.edu	37	chr19	49106977	49106977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgggggccacggagcggCggcgggacacgcggtgcggg	23	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49106977C>T	uc002pjn.2	-	4	1015	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	317										ovary(1)	1		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)		CACGGAGCGGCGGCGGGACAC	0.796													T	49106977	C	T	49106977	3	4	248	1	0	0	0	0	1	0	0	0	5637	768	27	1	494	1	FAM83E	19	49106977	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	101177	49106977	10022006	1609	123616											
TULP2	7288	broad.mit.edu	37	chr19	49391244	49391245	+	Frame_Shift_Ins	INS	-	-	G													ctccaggtagaggtagtagaINSgggggaacaagcccttgtcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49391244_49391245insG	uc002pkz.2	-	8	1061_1062	c.910_911insC	c.(910-912)CTCfs	p.L304fs		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	304					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GAGGTAGTAGAGGGGGAACAAG	0.614													G	49391245	-	G	49391244	7	5	248	1	0	1	1	0	0	0	0	0	16771	304	11	0	675	0	TULP2	19	49391244	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	284267	49391244	9737739	1610	123617	644	2									
TULP2	7288	broad.mit.edu	37	chr19	49391245	49391246	+	Frame_Shift_Ins	INS	-	-	G													tccaggtagaggtagtagagINSggggaacaagcccttgtcca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49391244_49391245A>AG	uc002pkz.2	-	7	1061_1062	c.910_911T>CT	c.(910-912)ctcfs	p.L304fs		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	304					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GAGGTAGTAGAGGGGGAACAAG	0.614													G	49391246	-	G	49391245	7	5	248	1	0	1	1	0	0	0	0	0	16771	1000	35	0	676	0	TULP2	19	49391245	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	49391245	9737738	1611	123618	644	2									
NUCB1	4924	broad.mit.edu	37	chr19	49404147	49404148	+	Frame_Shift_Ins	INS	-	-	G													ggctgtccccctggagcgagINSgggcgcccaacaaggaggag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49404146_49404147A>AG	uc002plb.4	+	1	427_428	c.93_94A>AG	c.(91-96)cgagggfs	p.R31fs	NUCB1_uc002pla.3_Frame_Shift_Ins_p.R31fs|TULP2_uc002pkz.2_5'Flank|Mir_324_uc021uxa.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	31						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion 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)		CCCTGGAGCGAGGGGCGCCCAA	0.658													G	49404148	-	G	49404147	7	5	248	1	0	1	1	0	0	0	0	0	10718	1000	35	0	96	0	NUCB1	19	49404147	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	12902	49404147	9724836	1612	123619											
GYS1	2997	broad.mit.edu	37	chr19	49472863	49472863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtgggtagcggtacccCtgggcctgcatacggcgatg	17	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49472863C>A	uc002plp.2	-	16	2137	c.1896G>T	c.(1894-1896)CAG>CAT	p.Q632H	GYS1_uc010xzy.1_Missense_Mutation_p.Q265H|GYS1_uc010emm.2_Missense_Mutation_p.Q568H|GYS1_uc010xzz.1_Missense_Mutation_p.Q552H	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	632					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		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)		AGCGGTACCCCTGGGCCTGCA	0.667													A	49472863	C	A	49472863	3	1	248	1	0	0	0	0	1	0	0	0	6912	680	24	5	321	5	GYS1	19	49472863	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	68716	49472863	9656120	1613	123620											
LIN7B	64130	broad.mit.edu	37	chr19	49619616	49619616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctaggcttcaacatcatgGgtggcaaagagcaaaactcg	11	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49619616G>T	uc002pmp.2	+	4	369	c.325G>T	c.(325-327)GGT>TGT	p.G109C		NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B	109	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding				0		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		CAACATCATGGGTGGCAAAGA	0.612													T	49619616	G	T	49619616	3	4	248	1	0	0	0	0	1	0	0	0	8811	1232	43	5	339	5	LIN7B	19	49619616	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	146753	49619616	9509367	1614	123621											
HRC	3270	broad.mit.edu	37	chr19	49658222	49658222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttggagacatcttcatcCtccttttcacggtctgggtg	9	12	4	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49658222C>A	uc002pmv.2	-	1	460	c.273G>T	c.(271-273)GAG>GAT	p.E91D	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	91					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		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)		CATCTTCATCCTCCTTTTCAC	0.537													A	49658222	C	A	49658222	3	1	248	1	0	0	0	0	1	0	0	0	7352	680	24	5	1850	5	HRC	19	49658222	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	38606	49658222	9470761	1615	123622											
PIH1D1	55011	broad.mit.edu	37	chr19	49949871	49949871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgcagcgggatataagcGtctagatgatacagctgctg	12	8	2	2	rs138938752	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49949871G>A	uc002pns.2	-	8	1052	c.768C>T	c.(766-768)GAC>GAT	p.D256D	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	256					box C/D snoRNP assembly	pre-snoRNP complex					0		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)		GGATATAAGCGTCTAGATGAT	0.612													A	49949871	G	A	49949871	2	1	248	1	0	0	0	0	0	0	0	1	11906	1136	40	1		1	PIH1D1	19	49949871	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	291649	49949871	9179112	1616	123623											
ALDH16A1	126133	broad.mit.edu	37	chr19	49967402	49967402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccgtggcctgtggtcGtggcctcccccttccgcaca	13	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49967402G>A	uc002pnt.2	+	10	1329	c.1213G>A	c.(1213-1215)GTG>ATG	p.V405M	ALDH16A1_uc010yar.1_Missense_Mutation_p.V354M|ALDH16A1_uc010yas.1_Missense_Mutation_p.V240M|ALDH16A1_uc010yat.1_Missense_Mutation_p.V242M	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	405							oxidoreductase activity|protein binding			skin(1)	1		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)		GCCTGTGGTCGTGGCCTCCCC	0.726													A	49967402	G	A	49967402	3	1	248	1	0	0	0	0	1	0	0	0	488	1145	40	1	1251	1	ALDH16A1	19	49967402	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	17531	49967402	9161581	1617	123624											
FCGRT	2217	broad.mit.edu	37	chr19	50017380	50017380	+	Frame_Shift_Del	DEL	G	G	-													ctggaagctttcaaagctttGgggggaaaaggtgagattcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50017379_50017379TG>T	uc002pog.2	+	1	536	c.314_314TG>T	c.(313-315)ttgfs	p.L105fs	FCGRT_uc002poe.2_Frame_Shift_Del_p.L105fs|FCGRT_uc002pof.2_5'UTR|FCGRT_uc010yax.2_Frame_Shift_Del_p.L105fs|FCGRT_uc002poh.2_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	105	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCAAAGCTTTGGGGGGAAAA	0.582													-	50017380	G	-	50017380	7	5	248	1	0	1	0	1	0	0	0	0	5786	1339	47	0	321	0	FCGRT	19	50017380	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	49978	50017380	9111603	1618	123625											
SCAF1	58506	broad.mit.edu	37	chr19	50155690	50155690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgaccgcgacagccgcCgccggggggccgtgccaccc	17	17	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50155690C>T	uc002poq.2	+	7	2168	c.2044C>T	c.(2044-2046)CGC>TGC	p.R682C		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	682	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		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)		CGACAGCCGCCGCCGGGGGGC	0.602													T	50155690	C	T	50155690	3	4	248	1	0	0	0	0	1	0	0	0	13868	652	23	1	2066	1	SCAF1	19	50155690	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	138310	50155690	8973293	1619	123626											
TSKS	60385	broad.mit.edu	37	chr19	50248607	50248607	+	Frame_Shift_Del	DEL	C	C	-													ccgcagggcttcctgcaccgCcccctcctcctgatgccacc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50248607delC	uc002ppm.2	-	7	1050	c.1039delG	c.(1039-1041)GCGfs	p.A347fs		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	347							protein binding			large_intestine(1)|skin(1)	2		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)		TCCTGCACCGCCCCCTCCTCC	0.701													-	50248607	C	-	50248607	7	5	248	1	0	1	0	1	0	0	0	0	16623	739	26	0	759	0	TSKS	19	50248607	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	92917	50248607	8880376	1620	123627											
TSKS	60385	broad.mit.edu	37	chr19	50249978	50249978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccggctcctgcttctcCtccggctcctgcagctcggc	9	20	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50249978C>A	uc002ppm.2	-	6	752	c.741G>T	c.(739-741)GAG>GAT	p.E247D		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	247							protein binding			large_intestine(1)|skin(1)	2		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)		cctgcttctcctccggctcct	0.303													A	50249978	C	A	50249978	3	1	248	1	0	0	0	0	1	0	0	0	16623	680	24	5	1061	5	TSKS	19	50249978	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1371	50249978	8879005	1621	123628											
TSKS	60385	broad.mit.edu	37	chr19	50265282	50265282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatttccgtgatgtctgcGtcatccggatcccagggtag	13	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50265282G>A	uc002ppm.2	-	2	389	c.378C>T	c.(376-378)GAC>GAT	p.D126D		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	126							protein binding			large_intestine(1)|skin(1)	2		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)		TGATGTCTGCGTCATCCGGAT	0.637													A	50265282	G	A	50265282	2	1	248	1	0	0	0	0	0	0	0	1	16623	1136	40	1		1	TSKS	19	50265282	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	15304	50265282	8863701	1622	123629											
PTOV1	53635	broad.mit.edu	37	chr19	50357701	50357701	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcactgggtcccatcggTccctcctcacctgggctcac	12	17	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50357701T>C	uc002pqf.1	+	2	380	c.210T>C	c.(208-210)GGT>GGC	p.G70G	uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Silent_p.G38G|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.G38G|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		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;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTCCCATCGGTCCCTCCTCAC	0.672													C	50357701	T	C	50357701	2	2	248	1	0	0	0	0	0	0	0	1	12769	1654	58	3		3	PTOV1	19	50357701	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	92419	50357701	8771282	1623	123630											
IL4I1	259307	broad.mit.edu	37	chr19	50397670	50397670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccacgtgttcttgtcgTactgggtgaacttggtcagg	13	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50397670T>C	uc002pqt.1	-	5	500	c.422A>G	c.(421-423)TAC>TGC	p.Y141C	IL4I1_uc002pqv.1_Missense_Mutation_p.Y150C|IL4I1_uc010eno.1_Missense_Mutation_p.Y149C|IL4I1_uc002pqw.1_Missense_Mutation_p.Y149C|IL4I1_uc002pqu.1_Missense_Mutation_p.Y163C	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	141						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		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)		GTTCTTGTCGTACTGGGTGAA	0.622													C	50397670	T	C	50397670	3	2	248	1	0	0	0	0	1	0	0	0	7697	1638	57	3	1297	3	IL4I1	19	50397670	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	39969	50397670	8731313	1624	123631											
MYH14	79784	broad.mit.edu	37	chr19	50713782	50713782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggagtggacggcccggCgtctcgtgtgggtgccttcg	19	10	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50713782C>T	uc002prr.1	+	2	207	c.160C>T	c.(160-162)CGT>TGT	p.R54C	MYH14_uc010enu.1_Missense_Mutation_p.R54C|MYH14_uc002prq.1_Missense_Mutation_p.R54C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	54	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGGCCCGGCGTCTCGTGTG	0.766													T	50713782	C	T	50713782	3	4	248	1	0	0	0	0	1	0	0	0	10033	768	27	1	162	1	MYH14	19	50713782	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	316112	50713782	8415201	1625	123632											
MYH14	79784	broad.mit.edu	37	chr19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagctgtcagctgagcGcagtttctcagccaaggcag	12	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50804952G>A	uc002prr.1	+	38	5428	c.5381G>A	c.(5380-5382)CGC>CAC	p.R1794H	MYH14_uc010enu.1_Missense_Mutation_p.R1835H|MYH14_uc002prq.1_Missense_Mutation_p.R1802H|MYH14_uc010ycb.1_Missense_Mutation_p.R145H|MYH14_uc002prs.1_Missense_Mutation_p.R145H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1794	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCAGCTGAGCGCAGTTTCTCA	0.612													A	50804952	G	A	50804952	3	1	248	1	0	0	0	0	1	0	0	0	10033	1087	38	1	5658	1	MYH14	19	50804952	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	91170	50804952	8324031	1626	123633											
KLK15	55554	broad.mit.edu	37	chr19	51330383	51330383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggccatcgcgcttgcGcaggttgtgctctcccaggc	13	15	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:51330383G>A	uc002ptl.2	-	3	263	c.232C>T	c.(232-234)CGC>TGC	p.R78C	KLK15_uc002ptm.2_Missense_Mutation_p.R78C|KLK15_uc002ptn.2_Missense_Mutation_p.R78C|KLK15_uc002pto.2_Missense_Mutation_p.R77C|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.R77C|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCGCGCTTGCGCAGGTTGTGC	0.632													A	51330383	G	A	51330383	3	1	248	1	0	0	0	0	1	0	0	0	8403	1087	38	1	550	1	KLK15	19	51330383	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	525431	51330383	7798600	1627	123634											
KLK5	25818	broad.mit.edu	37	chr19	51451957	51451957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatctatctgtctcGggtaagcatcctcgcacctt	9	12	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:51451957G>A	uc002pue.2	-	6	883	c.665C>T	c.(664-666)CCG>CTG	p.P222L	KLK5_uc002puf.2_Missense_Mutation_p.P222L|KLK5_uc002pug.2_Missense_Mutation_p.P222L	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	222	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TATCTGTCTCGGGTAAGCATC	0.453													A	51451957	G	A	51451957	3	1	248	1	0	0	0	0	1	0	0	0	8407	1116	39	1	224	1	KLK5	19	51451957	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	121574	51451957	7677026	1628	123635											
KLK5	25818	broad.mit.edu	37	chr19	51452298	51452298	+	Frame_Shift_Del	DEL	C	C	-													agggtgggggatggatttgaCcccctggaacatctgctgcc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:51452297_51452297AC>A	uc002pue.3	-	4	628	c.410_410GT>T	c.(409-411)gtcfs	p.V137fs	KLK5_uc002puf.3_Frame_Shift_Del_p.V137fs|KLK5_uc002pug.3_Frame_Shift_Del_p.V137fs	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	137	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)		GATGGATTTGACCCCCTGGAA	0.527													-	51452298	C	-	51452298	7	5	248	1	0	1	0	1	0	0	0	0	8407	507	18	0	484	0	KLK5	19	51452298	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	341	51452298	7676685	1629	123636											
ZNF616	90317	broad.mit.edu	37	chr19	52619872	52619872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattacatacatacgtttttTccctaatgtgtggagaaact	6	8	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:52619872T>C	uc002pym.2	-	4	828	c.545A>G	c.(544-546)GAA>GGA	p.E182G	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATACGTTTTTTCCCTAATGTG	0.373													C	52619872	T	C	52619872	3	2	248	1	0	0	0	0	1	0	0	0	18038	1783	62	3	1804	3	ZNF616	19	52619872	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1167574	52619872	6509111	1630	123637											
NLRP12	91662	broad.mit.edu	37	chr19	54313858	54313858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggggtgctccagcagaCggtggagcttctccaaagcc	14	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54313858C>T	uc002qch.3	-	3	1275	c.1055G>A	c.(1054-1056)CGT>CAT	p.R352H	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R352H|NLRP12_uc002qcj.3_Missense_Mutation_p.R352H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R352H	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	352	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			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCAGCAGACGGTGGAGCTT	0.547													T	54313858	C	T	54313858	3	4	248	1	0	0	0	0	1	0	0	0	10474	536	19	1	2258	1	NLRP12	19	54313858	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1693986	54313858	4815125	1631	123638											
MYADM	91663	broad.mit.edu	37	chr19	54377265	54377265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcctggacccgggcccGgcccggcgagatcactggct	16	15	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54377265G>A	uc002qcl.2	+	3	630	c.482G>A	c.(481-483)CGG>CAG	p.R161Q	MYADM_uc002qcm.2_Missense_Mutation_p.R161Q|MYADM_uc002qcn.2_Missense_Mutation_p.R161Q|MYADM_uc002qco.2_Missense_Mutation_p.R161Q|MYADM_uc002qcp.2_Missense_Mutation_p.R161Q	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	161	MARVEL 1.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACCCGGGCCCGGCCCGGCGAG	0.662													A	54377265	G	A	54377265	3	1	248	1	0	0	0	0	1	0	0	0	10006	1116	39	1	484	1	MYADM	19	54377265	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	63407	54377265	4751718	1632	123639											
PRPF31	26121	broad.mit.edu	37	chr19	54632444	54632444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctagatcgaggaggacGcctaccaggaggacctggga	14	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54632444G>A	uc002qdh.2	+	12	1555	c.1159G>A	c.(1159-1161)GCC>ACC	p.A387T	PRPF31_uc010yek.1_Missense_Mutation_p.A387T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	387					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGAGGAGGACGCCTACCAGGA	0.677													A	54632444	G	A	54632444	3	1	248	1	0	0	0	0	1	0	0	0	12566	1087	38	1	1201	1	PRPF31	19	54632444	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	255179	54632444	4496539	1633	123640											
LILRB5	10990	broad.mit.edu	37	chr19	54756410	54756410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggacggtagaaatGggctggacagagatggacag	16	8	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54756410G>T	uc002qex.2	-	10	1585	c.1474C>A	c.(1474-1476)CAT>AAT	p.H492N	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.H484N|LILRB5_uc002qey.2_Missense_Mutation_p.H493N|LILRB5_uc002qez.2_Missense_Mutation_p.H393N|LILRB5_uc002qfa.1_3'UTR	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	492	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	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)		CGGTAGAAATGGGCTGGACAG	0.602													T	54756410	G	T	54756410	3	4	248	1	0	0	0	0	1	0	0	0	8794	1348	47	5	314	5	LILRB5	19	54756410	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	123966	54756410	4372573	1634	123641											
LILRA1	11024	broad.mit.edu	37	chr19	55086027	55086027	+	Frame_Shift_Del	DEL	C	C	-													cactcatcagagtacagtgaCcccctggagctggtggtgac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55086026_55086026AC>A	uc010ern.3	+	3	798	c.329_329AC>A	c.(328-330)gacfs	p.D110fs	LILRA1_uc002qgg.4_Frame_Shift_Del_p.D110fs|LILRA1_uc002qgf.3_Frame_Shift_Del_p.D110fs|LILRA1_uc010yfe.1_Frame_Shift_Del_p.D110fs|LILRA1_uc010yff.1_Frame_Shift_Del_p.D98fs|LILRA1_uc010ero.3_Frame_Shift_Del_p.D98fs|LILRA1_uc010yfg.1_Frame_Shift_Del_p.D110fs			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	112	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGTACAGTGACCCCCTGGAG	0.607													-	55086027	C	-	55086027	7	5	248	1	0	1	0	1	0	0	0	0	8784	506	18	0		0	LILRA1	19	55086027	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	329617	55086027	4042956	1635	123642											
RDH13	112724	broad.mit.edu	37	chr19	55558836	55558836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgccggggtgcagggCgttgacagtcacaccagagc	16	13	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55558836C>T	uc002qio.3	-	6	864	c.679G>A	c.(679-681)GCC>ACC	p.A227T	RDH13_uc002qip.2_Missense_Mutation_p.A156T|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	227							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGGTGCAGGGCGTTGACAGTC	0.647													T	55558836	C	T	55558836	3	4	248	1	0	0	0	0	1	0	0	0	13192	768	27	1	324	1	RDH13	19	55558836	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	472809	55558836	3570147	1636	123643											
RDH13	112724	broad.mit.edu	37	chr19	55560066	55560066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcatctcgaagccgtcctCggtggtccagtgggggcacc	14	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55560066C>T	uc002qio.3	-	4	591	c.406G>A	c.(406-408)GAG>AAG	p.E136K	RDH13_uc002qip.2_Missense_Mutation_p.E65K|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	136							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	AAGCCGTCCTCGGTGGTCCAG	0.512													T	55560066	C	T	55560066	3	4	248	1	0	0	0	0	1	0	0	0	13192	893	31	1	605	1	RDH13	19	55560066	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1230	55560066	3568917	1637	123644											
C19orf51	352909	broad.mit.edu	37	chr19	55672679	55672679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtagctcaggaggcgaccGgacgccagggtccggttggg	18	11	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55672679G>A	uc002qji.1	-	7	805	c.771C>T	c.(769-771)TCC>TCT	p.S257S	C19orf51_uc002qjh.1_Silent_p.S72S|C19orf51_uc002qjj.1_Silent_p.S304S|C19orf51_uc002qjk.1_Silent_p.S203S|C19orf51_uc002qjl.1_Silent_p.S325S			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	257											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGAGGCGACCGGACGCCAGGG	0.652													A	55672679	G	A	55672679	2	1	248	1	0	0	0	0	0	0	0	1	1933	1103	39	1		1	C19orf51	19	55672679	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	112613	55672679	3456304	1638	123645											
SBK2	646643	broad.mit.edu	37	chr19	56047629	56047629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccgaagcccctgcctcCgccggcccttcctcagactg	8	21	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:56047629C>T	uc010ygc.1	-	1	33	c.33G>A	c.(31-33)GCG>GCA	p.A11A		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	11							ATP binding|protein serine/threonine kinase activity				0						CCCCTGCCTCCGCCGGCCCTT	0.572													T	56047629	C	T	56047629	2	4	248	1	0	0	0	0	0	0	0	1	13861	639	23	1		1	SBK2	19	56047629	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	374950	56047629	3081354	1639	123646											
U2AF2	11338	broad.mit.edu	37	chr19	56170618	56170618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaagcgcagccacagccGctctcggagccgggaccgca	14	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:56170618G>A	uc002qlu.2	+	2	1147	c.92G>A	c.(91-93)CGC>CAC	p.R31H	U2AF2_uc002qlt.2_Missense_Mutation_p.R31H	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	31	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCACAGCCGCTCTCGGAGC	0.711													A	56170618	G	A	56170618	3	1	248	1	0	0	0	0	1	0	0	0	16820	1087	38	1	98	1	U2AF2	19	56170618	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	122989	56170618	2958365	1640	123647											
U2AF2	11338	broad.mit.edu	37	chr19	56181034	56181034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccccggcctgtggacggCgtcgaggtgcccggctgcgg	17	15	0	0	rs142476432	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:56181034C>T	uc002qlu.2	+	11	2324	c.1269C>T	c.(1267-1269)GGC>GGT	p.G423G	U2AF2_uc002qlt.2_Silent_p.G419G	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	423	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			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGTGGACGGCGTCGAGGTGC	0.478													T	56181034	C	T	56181034	2	4	248	1	0	0	0	0	0	0	0	1	16820	755	27	1		1	U2AF2	19	56181034	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10416	56181034	2947949	1641	123648											
ZNF835	90485	broad.mit.edu	37	chr19	57175913	57175913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacgcgtagggccgctcGcccgtgtgcacgcgccggtg	17	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:57175913G>A	uc010ygo.1	-	2	720	c.720C>T	c.(718-720)GGC>GGT	p.G240G	ZNF835_uc010ygn.1_Silent_p.G218G	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AGGGCCGCTCGCCCGTGTGCA	0.711													A	57175913	G	A	57175913	2	1	248	1	0	0	0	0	0	0	0	1	18183	1074	38	1		1	ZNF835	19	57175913	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	994879	57175913	1953070	1642	123649											
ZNF835	90485	broad.mit.edu	37	chr19	57175984	57175984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccgcagtcggcgcagcGgtgcggcttctcgcccgtgt	15	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:57175984G>A	uc010ygo.1	-	2	649	c.649C>T	c.(649-651)CGC>TGC	p.R217C	ZNF835_uc010ygn.1_Missense_Mutation_p.R195C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TCGGCGCAGCGGTGCGGCTTC	0.736													A	57175984	G	A	57175984	3	1	248	1	0	0	0	0	1	0	0	0	18183	1116	39	1	1032	1	ZNF835	19	57175984	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	71	57175984	1952999	1643	123650											
ZNF264	9422	broad.mit.edu	37	chr19	57723721	57723721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcaagaggcaccagcGgattcacactggggagaagc	12	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:57723721G>A	uc002qob.2	+	4	1669	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	419	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		AGGCACCAGCGGATTCACACT	0.522													A	57723721	G	A	57723721	3	1	248	1	0	0	0	0	1	0	0	0	17801	1116	39	1	1270	1	ZNF264	19	57723721	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	547737	57723721	1405262	1644	123651											
ZNF530	348327	broad.mit.edu	37	chr19	58117806	58117806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaatgtggcaaatcctttCgccaggtatctgtcctcatt	9	10	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:58117806C>T	uc002qpk.2	+	3	1133	c.913C>T	c.(913-915)CGC>TGC	p.R305C	ZNF547_uc002qpm.3_Silent_p.F287F|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	305	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CAAATCCTTTCGCCAGGTATC	0.443													T	58117806	C	T	58117806	3	4	248	1	0	0	0	0	1	0	0	0	17968	884	31	1	923	1	ZNF530	19	58117806	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	394085	58117806	1011177	1645	123652											
ZNF8	7554	broad.mit.edu	37	chr19	58806624	58806624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagagctctcacctcatcCggcaccagataactcacacc	5	17	4	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:58806624C>T	uc002qry.1	+	4	1580	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	484	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TCACCTCATCCGGCACCAGAT	0.537													T	58806624	C	T	58806624	3	4	248	1	0	0	0	0	1	0	0	0	18164	643	23	1	1464	1	ZNF8	19	58806624	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	688818	58806624	322359	1646	123653											
TRIB3	57761	broad.mit.edu	37	chr20	368830	368830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactgctccagatcgtgCaactgctgtggccactgcct	9	15	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:368830C>T	uc002wdm.2	+	2	682	c.176C>T	c.(175-177)GCA>GTA	p.A59V	TRIB3_uc002wdn.2_Missense_Mutation_p.A86V	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	59					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			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCAGATCGTGCAACTGCTGTG	0.677													T	368830	C	T	368830	3	4	248	1	0	0	0	0	1	0	0	0	16481	710	25	2	178	2	TRIB3	20	368830	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08		368830	62656690	1647	123654											
TRIB3	57761	broad.mit.edu	37	chr20	376933	376933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgcgtgcccagcctacGtgggacctgagatactcagc	12	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:376933G>A	uc002wdm.2	+	4	1182	c.676G>A	c.(676-678)GTG>ATG	p.V226M	TRIB3_uc002wdn.2_Missense_Mutation_p.V253M	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	226	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			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCCAGCCTACGTGGGACCTGA	0.627													A	376933	G	A	376933	3	1	248	1	0	0	0	0	1	0	0	0	16481	1145	40	1	686	1	TRIB3	20	376933	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	8103	376933	62648587	1648	123655											
NSFL1C	55968	broad.mit.edu	37	chr20	1426359	1426359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccgccgtctgcaagcCgaatttggatgtttgtggta	12	11	1	0	rs6105156		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:1426359C>T	uc002wfc.2	-	8	1850	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	NSFL1C_uc002wfd.2_Missense_Mutation_p.R190Q|NSFL1C_uc002wfe.2_Missense_Mutation_p.R270Q|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.R67Q	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	301	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						GTCTGCAAGCCGAATTTGGAT	0.512													T	1426359	C	T	1426359	3	4	248	1	0	0	0	0	1	0	0	0	10672	652	23	1	218	1	NSFL1C	20	1426359	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1049426	1426359	61599161	1649	123656											
TGM3	7053	broad.mit.edu	37	chr20	2290323	2290323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggagtccagagtatcAactggcagacggccttcaac	10	12	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:2290323A>G	uc002wfx.3	+	2	125	c.28A>G	c.(28-30)AAC>GAC	p.N10D		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	10					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			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CCAGAGTATCAACTGGCAGAC	0.527													G	2290323	A	G	2290323	3	3	248	1	0	0	0	0	1	0	0	0	15828	130	5	3	34	3	TGM3	20	2290323	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	863964	2290323	60735197	1650	123657											
ITPA	3704	broad.mit.edu	37	chr20	3193862	3193863	+	Frame_Shift_Ins	INS	-	-	A													catgcactttggtggcacagINSaaaattgaccgtatgtctct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:3193862_3193863insA	uc002wid.2	+	2	256_257	c.114_115insA	c.(112-117)CAGAAAfs	p.Q38fs	ITPA_uc002wie.2_Frame_Shift_Ins_p.Q21fs|ITPA_uc002wif.2_Intron	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	inosine triphosphatase isoform a	38_39					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			ovary(1)	1						TGGTGGCACAGAAAATTGACCG	0.391													A	3193863	-	A	3193862	7	5	248	1	0	1	1	0	0	0	0	0	7915	933	33	0	120	0	ITPA	20	3193862	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	903539	3193862	59831658	1651	123658	645	2									
ITPA	3704	broad.mit.edu	37	chr20	3193863	3193864	+	Frame_Shift_Ins	INS	-	-	A													atgcactttggtggcacagaINSaaattgaccgtatgtctctg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:3193862_3193863G>GA	uc002wid.3	+	1	256_257	c.114_115G>GA	c.(112-117)cagaaafs	p.Q38fs	ITPA_uc002wie.3_Frame_Shift_Ins_p.Q21fs|ITPA_uc002wif.3_Intron	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	38					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						TGGTGGCACAGAAAATTGACCG	0.391													A	3193864	-	A	3193863	7	5	248	1	0	1	1	0	0	0	0	0	7915	247	9	0	121	0	ITPA	20	3193863	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	3193863	59831657	1652	123659	645	2									
SIGLEC1	6614	broad.mit.edu	37	chr20	3678732	3678732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgtccagccccggccccaGcggcatcaaggtccagcctg	12	19	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:3678732G>T	uc002wja.2	-	8	1835	c.1835C>A	c.(1834-1836)GCT>GAT	p.A612D	SIGLEC1_uc002wiz.3_Missense_Mutation_p.A612D	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	612	Ig-like C2-type 6.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CCCGGCCCCAGCGGCATCAAG	0.662													T	3678732	G	T	3678732	3	4	248	1	0	0	0	0	1	0	0	0	14305	971	34	5	3350	5	SIGLEC1	20	3678732	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	484869	3678732	59346788	1653	123660											
TMX4	56255	broad.mit.edu	37	chr20	7964446	7964446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatcgtacttaccagaaCgctcagataaatgccttgga	8	10	1	2	rs113450175		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:7964446C>T	uc002wmx.1	-	7	807	c.674G>A	c.(673-675)CGT>CAT	p.R225H		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	225	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						CTTACCAGAACGCTCAGATAA	0.383													T	7964446	C	T	7964446	3	4	248	1	0	0	0	0	1	0	0	0	16266	536	19	1	383	1	TMX4	20	7964446	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4285714	7964446	55061074	1654	123661											
MKKS	8195	broad.mit.edu	37	chr20	10394116	10394116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactctctcagttgtcagtGgttcactcttacacaatgat	7	10	5	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:10394116G>T	uc002wnt.1	-	3	934	c.47C>A	c.(46-48)CCA>CAA	p.P16Q	MKKS_uc002wnu.1_Missense_Mutation_p.P16Q|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	16					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				0						AGTTGTCAGTGGTTCACTCTT	0.428									Bardet-Biedl_syndrome				T	10394116	G	T	10394116	3	4	248	1	0	0	0	0	1	0	0	0	9600	1348	47	5	1681	5	MKKS	20	10394116	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2429670	10394116	52631404	1655	123662											
BTBD3	22903	broad.mit.edu	37	chr20	11903503	11903503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattgatgcccaggctgAgttagctctcaagtctgagg	14	8	2	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:11903503A>G	uc002wnz.2	+	4	1117	c.758A>G	c.(757-759)GAG>GGG	p.E253G	BTBD3_uc002wny.2_Missense_Mutation_p.E192G|BTBD3_uc002woa.2_Missense_Mutation_p.E192G|BTBD3_uc010zrf.1_Missense_Mutation_p.E102G|BTBD3_uc010zrg.1_Missense_Mutation_p.E102G|BTBD3_uc010zrh.1_Missense_Mutation_p.E102G	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	253										ovary(2)|central_nervous_system(1)	3						GCCCAGGCTGAGTTAGCTCTC	0.507													G	11903503	A	G	11903503	3	3	248	1	0	0	0	0	1	0	0	0	1544	304	11	3	772	3	BTBD3	20	11903503	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1509387	11903503	51122017	1656	123663											
BTBD3	22903	broad.mit.edu	37	chr20	11903867	11903867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggccttgtcccccagcgCtgtcaccgtttccagtcgtg	11	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:11903867C>T	uc002wnz.2	+	4	1481	c.1122C>T	c.(1120-1122)CGC>CGT	p.R374R	BTBD3_uc002wny.2_Silent_p.R313R|BTBD3_uc002woa.2_Silent_p.R313R|BTBD3_uc010zrf.1_Silent_p.R223R|BTBD3_uc010zrg.1_Silent_p.R223R|BTBD3_uc010zrh.1_Silent_p.R223R	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	374										ovary(2)|central_nervous_system(1)	3						TCCCCCAGCGCTGTCACCGTT	0.507													T	11903867	C	T	11903867	2	4	248	1	0	0	0	0	0	0	0	1	1544	784	28	2		2	BTBD3	20	11903867	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	364	11903867	51121653	1657	123664											
KIF16B	55614	broad.mit.edu	37	chr20	16316624	16316624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgaaaacgactgtaacGcctgaatacagtccatgtct	7	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:16316624G>A	uc002wpg.1	-	24	3816	c.3658C>T	c.(3658-3660)CGT>TGT	p.R1220C	KIF16B_uc002wpe.1_Intron|KIF16B_uc002wpf.1_Missense_Mutation_p.R561C|KIF16B_uc010gch.1_Missense_Mutation_p.R1169C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1220	PX.			R->A: Abolishes PtdIns(3)P-binding.	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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						CGACTGTAACGCCTGAATACA	0.303													A	16316624	G	A	16316624	3	1	248	1	0	0	0	0	1	0	0	0	8278	1087	38	1	307	1	KIF16B	20	16316624	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4412757	16316624	46708896	1658	123665											
KIF16B	55614	broad.mit.edu	37	chr20	16488710	16488710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatccataagttcttctaCgtcaccataattctgtacta	4	12	4	0	rs144734414	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:16488710C>T	uc002wpg.1	-	7	750	c.592G>A	c.(592-594)GTA>ATA	p.V198I	KIF16B_uc010gch.1_Missense_Mutation_p.V198I|KIF16B_uc010gci.1_Missense_Mutation_p.V198I|KIF16B_uc010gcj.1_Missense_Mutation_p.V198I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	198	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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						AGTTCTTCTACGTCACCATAA	0.413													T	16488710	C	T	16488710	3	4	248	1	0	0	0	0	1	0	0	0	8278	536	19	1	3441	1	KIF16B	20	16488710	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	172086	16488710	46536810	1659	123666											
DSTN	11034	broad.mit.edu	37	chr20	17581680	17581681	+	Frame_Shift_Ins	INS	-	-	T													cagaaaagaagagttgatgtINStttttttgtggtaagcatgt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:17581679_17581680G>GT	uc002wpr.3	+	1	555_556	c.300_301G>GT	c.(298-303)atgtttfs	p.M100fs	DSTN_uc002wpq.3_Frame_Shift_Ins_p.M83fs|DSTN_uc010gck.3_Frame_Shift_Ins_p.M83fs	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356													T	17581681	-	T	17581680	7	5	248	1	0	1	1	0	0	0	0	0	4784	1725	60	0	307	0	DSTN	20	17581680	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1092970	17581680	45443840	1660	123667											
ZNF133	7692	broad.mit.edu	37	chr20	18286334	18286334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgttacaggcacacatgGcattcagggatgtggctgtg	14	7	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:18286334G>A	uc010gcq.2	+	3	309	c.4G>A	c.(4-6)GCA>ACA	p.A2T	ZNF133_uc010zrv.1_Missense_Mutation_p.A5T|ZNF133_uc010zrw.1_5'UTR|ZNF133_uc010gcr.2_Missense_Mutation_p.A2T|ZNF133_uc010zrx.1_Intron|ZNF133_uc002wql.3_Missense_Mutation_p.A2T|ZNF133_uc010gcs.2_Missense_Mutation_p.A2T|ZNF133_uc010zry.1_Intron|ZNF133_uc002wqm.2_Missense_Mutation_p.A2T	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	2	KRAB.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						GGCACACATGGCATTCAGGGA	0.577													A	18286334	G	A	18286334	3	1	248	1	0	0	0	0	1	0	0	0	17720	1203	42	2	6	2	ZNF133	20	18286334	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	704654	18286334	44739186	1661	123668											
ZNF133	7692	broad.mit.edu	37	chr20	18297297	18297297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacatcaaatgacacataCgggggagaagccatatgtgt	10	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:18297297C>T	uc010gcq.2	+	5	2107	c.1802C>T	c.(1801-1803)ACG>ATG	p.T601M	ZNF133_uc010zrv.1_Missense_Mutation_p.T604M|ZNF133_uc010zrw.1_Missense_Mutation_p.T538M|ZNF133_uc010gcr.2_Missense_Mutation_p.T601M|ZNF133_uc010zrx.1_Missense_Mutation_p.T506M|ZNF133_uc002wql.3_Missense_Mutation_p.T600M|ZNF133_uc010gcs.2_Missense_Mutation_p.T600M|ZNF133_uc010zry.1_Missense_Mutation_p.T506M|ZNF133_uc002wqm.2_Missense_Mutation_p.T601M	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	601						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ATGACACATACGGGGGAGAAG	0.547													T	18297297	C	T	18297297	3	4	248	1	0	0	0	0	1	0	0	0	17720	536	19	1	1809	1	ZNF133	20	18297297	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	10963	18297297	44728223	1662	123669											
NINL	22981	broad.mit.edu	37	chr20	25493544	25493544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgctgctccggcacgcGtctggcttctgtggcagcgt	15	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:25493544G>A	uc002wux.1	-	4	450	c.376C>T	c.(376-378)CGC>TGC	p.R126C	NINL_uc010gdn.1_Missense_Mutation_p.R126C|NINL_uc010gdo.1_Translation_Start_Site|NINL_uc010ztf.1_Missense_Mutation_p.R142C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	126					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCCGGCACGCGTCTGGCTTCT	0.622													A	25493544	G	A	25493544	3	1	248	1	0	0	0	0	1	0	0	0	10420	1145	40	1	3856	1	NINL	20	25493544	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	7196247	25493544	37531976	1663	123670											
REM1	28954	broad.mit.edu	37	chr20	30065686	30065686	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagacaccacactggtggtCgtggacacctgggaggccga	15	11	0	1	rs147559982		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:30065686C>T	uc002wwa.2	+	3	680	c.396C>T	c.(394-396)GTC>GTT	p.V132V		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	132					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACTGGTGGTCGTGGACACCT	0.572													T	30065686	C	T	30065686	2	4	248	1	0	0	0	0	0	0	0	1	13222	871	31	1		1	REM1	20	30065686	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	4572142	30065686	32959834	1664	123671											
PLAGL2	5326	broad.mit.edu	37	chr20	30784844	30784844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcatggtagggatgTgggcaccatacatgcccatg	15	9	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:30784844T>C	uc002wxn.2	-	3	1119	c.902A>G	c.(901-903)CAC>CGC	p.H301R		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTAGGGATGTGGGCACCATA	0.602													C	30784844	T	C	30784844	3	2	248	1	0	0	0	0	1	0	0	0	12020	1696	59	3	592	3	PLAGL2	20	30784844	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	719158	30784844	32240676	1665	123672											
PLAGL2	5326	broad.mit.edu	37	chr20	30785099	30785099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcacaggaagtccttaCggcctgtgtgcaccactagg	12	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:30785099C>T	uc002wxn.2	-	3	864	c.647G>A	c.(646-648)CGT>CAT	p.R216H		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAAGTCCTTACGGCCTGTGTG	0.597													T	30785099	C	T	30785099	3	4	248	1	0	0	0	0	1	0	0	0	12020	536	19	1	847	1	PLAGL2	20	30785099	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	255	30785099	32240421	1666	123673											
PLAGL2	5326	broad.mit.edu	37	chr20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-													tgctttgcatcttgaatccaGggggggacgctggtgaaaaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						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)			TCTTGAATCCAGGGGGGGACG	0.557													-	30789952	G	-	30789952	7	5	248	1	0	1	0	1	0	0	0	0	12020	987	35	0	1468	0	PLAGL2	20	30789952	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	4853	30789952	32235568	1667	123674											
DNMT3B	1789	broad.mit.edu	37	chr20	31384651	31384651	+	Frame_Shift_Del	DEL	G	G	-													tccttccaccctctctttgaGggggggctctgtcagacatg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:31384650_31384650AG>A	uc002wyc.3	+	12	1673	c.1352_1352AG>A	c.(1351-1353)gagfs	p.E451fs	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Frame_Shift_Del_p.E431fs|DNMT3B_uc002wye.3_Frame_Shift_Del_p.E431fs|DNMT3B_uc010ztz.2_Frame_Shift_Del_p.E389fs|DNMT3B_uc010zua.2_Frame_Shift_Del_p.E355fs|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Frame_Shift_Del_p.E443fs|DNMT3B_uc002wyg.3_Frame_Shift_Del_p.E150fs	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	451	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						CCTCTCTTTGAGGGGGGGCTC	0.562													-	31384651	G	-	31384651	7	5	248	1	0	1	0	1	0	0	0	0	4677	991	35	0	1439	0	DNMT3B	20	31384651	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	594699	31384651	31640869	1668	123675											
CBFA2T2	9139	broad.mit.edu	37	chr20	32224505	32224505	+	Frame_Shift_Del	DEL	A	A	-													acgtacctgtggagttttggAaaaaaacaggtatgtgtctg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:32224504_32224504GA>G	uc002wzg.1	+	9	1851	c.1314_1314GA>G	c.(1312-1314)tggfs	p.W438fs	CBFA2T2_uc010zug.1_Frame_Shift_Del_p.W212fs|CBFA2T2_uc002wze.1_Frame_Shift_Del_p.W429fs|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Frame_Shift_Del_p.W409fs|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_5'Flank	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	438						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						TGGAGTTTTGGAAAAAAACAG	0.443													-	32224505	A	-	32224505	7	5	248	1	0	1	0	1	0	0	0	0	2697	247	9	0	1387	0	CBFA2T2	20	32224505	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	839854	32224505	30801015	1669	123676											
PXMP4	11264	broad.mit.edu	37	chr20	32302516	32302516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtcatgaccagcgcgTgaggggcccggattttggct	16	9	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:32302516T>C	uc002wzv.2	-	2	263	c.140A>G	c.(139-141)CAC>CGC	p.H47R	PXMP4_uc002wzw.2_Missense_Mutation_p.H47R|PXMP4_uc010zuh.1_Missense_Mutation_p.H47R	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	47						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						GACCAGCGCGTGAGGGGCCCG	0.502													C	32302516	T	C	32302516	3	2	248	1	0	0	0	0	1	0	0	0	12851	1696	59	3	510	3	PXMP4	20	32302516	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	78011	32302516	30723004	1670	123677											
AHCY	191	broad.mit.edu	37	chr20	32880296	32880296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtactcctcgtccgtttCgcccttccaggcatacactg	8	16	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:32880296C>T	uc002xai.2	-	4	452	c.313G>A	c.(313-315)GAA>AAA	p.E105K	AHCY_uc002xaj.2_Missense_Mutation_p.E77K	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	105					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						TCGTCCGTTTCGCCCTTCCAG	0.582													T	32880296	C	T	32880296	3	4	248	1	0	0	0	0	1	0	0	0	409	893	31	1	1013	1	AHCY	20	32880296	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	577780	32880296	30145224	1671	123678											
NCOA6	23054	broad.mit.edu	37	chr20	33330707	33330707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagctggaaggattctgcGggctctcctgatagaccatt	13	10	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:33330707G>A	uc002xav.2	-	12	5924	c.3353C>T	c.(3352-3354)CCG>CTG	p.P1118L	NCOA6_uc002xaw.2_Missense_Mutation_p.P1118L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1118	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						AGGATTCTGCGGGCTCTCCTG	0.542													A	33330707	G	A	33330707	3	1	248	1	0	0	0	0	1	0	0	0	10233	1116	39	1	2858	1	NCOA6	20	33330707	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	450411	33330707	29694813	1672	123679											
NCOA6	23054	broad.mit.edu	37	chr20	33345538	33345538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacccttggtttgcagtcAttgtgcccagagaaccctgg	10	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:33345538A>G	uc002xav.2	-	8	3584	c.1013T>C	c.(1012-1014)ATG>ACG	p.M338T	NCOA6_uc002xaw.2_Missense_Mutation_p.M338T|NCOA6_uc010gew.1_Missense_Mutation_p.M295T	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	338	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						GTTTGCAGTCATTGTGCCCAG	0.592													G	33345538	A	G	33345538	3	3	248	1	0	0	0	0	1	0	0	0	10233	217	8	3	5214	3	NCOA6	20	33345538	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	14831	33345538	29679982	1673	123680											
MYH7B	57644	broad.mit.edu	37	chr20	33576026	33576026	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgggtcttcatcgacttCggccttgacctgcagccttg	11	13	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:33576026C>T	uc002xbi.1	+	17	1766	c.1674C>T	c.(1672-1674)TTC>TTT	p.F558F	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	516	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCATCGACTTCGGCCTTGACC	0.562													T	33576026	C	T	33576026	2	4	248	1	0	0	0	0	0	0	0	1	10040	883	31	1		1	MYH7B	20	33576026	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	230488	33576026	29449494	1674	123681											
SRC	6714	broad.mit.edu	37	chr20	36012784	36012784	+	Frame_Shift_Del	DEL	G	G	-													tcggacaccgtcacctccccGcagagggcgggcccgctggc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:36012784delG	uc002xgx.2	+	4	677	c.228delG	c.(226-228)CCGfs	p.P76fs	SRC_uc002xgy.2_Frame_Shift_Del_p.P76fs	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	76					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TCACCTCCCCGCAGAGGGCGG	0.806													-	36012784	G	-	36012784	7	5	248	1	0	1	0	1	0	0	0	0	15133	1074	38	0	230	0	SRC	20	36012784	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	2436758	36012784	27012736	1675	123682											
TGM2	7052	broad.mit.edu	37	chr20	36770586	36770586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgacgcgggtagggatgCccaggcacctcagcactgtt	13	13	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:36770586C>T	uc002xhr.2	-	7	975	c.875G>A	c.(874-876)GGC>GAC	p.G292D	TGM2_uc010zvx.1_Missense_Mutation_p.G211D|TGM2_uc010zvy.1_Missense_Mutation_p.G232D|TGM2_uc002xhs.1_Missense_Mutation_p.G268D|TGM2_uc002xht.2_Missense_Mutation_p.G292D	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	292					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGTAGGGATGCCCAGGCACCT	0.597													T	36770586	C	T	36770586	3	4	248	1	0	0	0	0	1	0	0	0	15827	739	26	2	1248	2	TGM2	20	36770586	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	757802	36770586	26254934	1676	123683											
SLC32A1	140679	broad.mit.edu	37	chr20	37353383	37353383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccatggccaccttgctcCgcagcaagctgtccaacgtg	10	17	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:37353383C>T	uc002xjc.2	+	1	279	c.16C>T	c.(16-18)CGC>TGC	p.R6C		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	6	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CACCTTGCTCCGCAGCAAGCT	0.647													T	37353383	C	T	37353383	3	4	248	1	0	0	0	0	1	0	0	0	14565	652	23	1	18	1	SLC32A1	20	37353383	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	582797	37353383	25672137	1677	123684											
PLCG1	5335	broad.mit.edu	37	chr20	39788754	39788754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctctccaggtggctccGgaagcagttttactcagtgg	11	11	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:39788754G>A	uc002xjp.1	+	4	594	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	PLCG1_uc002xjo.1_Missense_Mutation_p.R158Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	158	EF-hand.				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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				AGGTGGCTCCGGAAGCAGTTT	0.577													A	39788754	G	A	39788754	3	1	248	1	0	0	0	0	1	0	0	0	12035	1116	39	1	487	1	PLCG1	20	39788754	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2435371	39788754	23236766	1678	123685											
SFRS6	6431	broad.mit.edu	37	chr20	42088688	42088688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggattttatgcgacaaGcaggtgaagtaacctatgcg	11	7	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:42088688G>T	uc010zwg.1	+	4	567	c.397G>T	c.(397-399)GCA>TCA	p.A133S	SFRS6_uc002xki.2_Missense_Mutation_p.A4S|SFRS6_uc002xkk.2_Missense_Mutation_p.A133S	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	133	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TATGCGACAAGCAGGTGAAGT	0.393													T	42088688	G	T	42088688	3	4	248	1	0	0	0	0	1	0	0	0	14181	971	34	5	411	5	SFRS6	20	42088688	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2299934	42088688	20936832	1679	123686											
PABPC1L	80336	broad.mit.edu	37	chr20	43552846	43552846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacgactccattgatgaCgacaaactgaggaaagagtt	11	8	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:43552846C>T	uc010ggv.1	+	7	1003	c.921C>T	c.(919-921)GAC>GAT	p.D307D	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	307	RRM 4.						nucleotide binding|RNA binding			ovary(1)	1						CCATTGATGACGACAAACTGA	0.547													T	43552846	C	T	43552846	2	4	248	1	0	0	0	0	0	0	0	1	11364	535	19	1		1	PABPC1L	20	43552846	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1464158	43552846	19472674	1680	123687											
MATN4	8785	broad.mit.edu	37	chr20	43927168	43927168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgaagttttgtggacgCacgctcttggagccatcaac	11	11	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:43927168C>T	uc002xnn.2	-	7	1255	c.1068G>A	c.(1066-1068)GTG>GTA	p.V356V	MATN4_uc002xno.2_Silent_p.V315V|MATN4_uc002xnp.2_Silent_p.V274V|MATN4_uc010zwr.1_Silent_p.V304V|MATN4_uc002xnr.1_Silent_p.V356V	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	397	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TTTGTGGACGCACGCTCTTGG	0.572													T	43927168	C	T	43927168	2	4	248	1	0	0	0	0	0	0	0	1	9336	697	25	2		2	MATN4	20	43927168	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	374322	43927168	19098352	1681	123688											
SPINLW1	57119	broad.mit.edu	37	chr20	44171452	44171452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctttcttgtcataccacCaatgaagaaaataagccagg	6	9	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44171452C>A	uc002xou.2	-	3	310	c.278G>T	c.(277-279)TGG>TTG	p.W93L	SPINLW1_uc010zxc.1_Missense_Mutation_p.W93L|SPINLW1_uc002xot.2_Missense_Mutation_p.W77L|SPINLW1_uc002xov.1_3'UTR	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	93	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GTCATACCACCAATGAAGAAA	0.458													A	44171452	C	A	44171452	3	1	248	1	0	0	0	0	1	0	0	0	15066	595	21	5	131	5	SPINLW1	20	44171452	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	244284	44171452	18854068	1682	123689											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506623	44506623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagagaccaagccagacGcacagcaggtacaggtacag	12	11	0	3	rs139419541	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44506623G>A	uc002xqd.2	+	2	1629	c.1426G>A	c.(1426-1428)GCA>ACA	p.A476T	ZSWIM3_uc010zxg.1_Missense_Mutation_p.A470T	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	476							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				CAAGCCAGACGCACAGCAGGT	0.577													A	44506623	G	A	44506623	3	1	248	1	0	0	0	0	1	0	0	0	18239	1087	38	1	1432	1	ZSWIM3	20	44506623	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	335171	44506623	18518897	1683	123690											
CTSA	5476	broad.mit.edu	37	chr20	44523668	44523669	+	Frame_Shift_Ins	INS	-	-	C													gggataaagtgcgcatggacINScccccctgcaccaacacaac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44523667_44523668A>AC	uc002xqh.3	+	10	1411_1412	c.1037_1038A>AC	c.(1036-1038)gacfs	p.D346fs	CTSA_uc002xqj.4_Frame_Shift_Ins_p.D328fs|CTSA_uc010zxi.2_Frame_Shift_Ins_p.D329fs|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	328					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	p.C349fs*36(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GTGCGCATGGACCCCCCCTGCA	0.634													C	44523669	-	C	44523668	7	5	248	1	0	1	1	0	0	0	0	0	4029	506	18	0	1080	0	CTSA	20	44523668	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	17045	44523668	18501852	1684	123691											
ZNF335	63925	broad.mit.edu	37	chr20	44589289	44589289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttctcagtgctgtgcGtcttcatgtgctgcgtgagt	15	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44589289G>A	uc002xqw.2	-	12	1871	c.1748C>T	c.(1747-1749)ACG>ATG	p.T583M	ZNF335_uc010zxk.1_Missense_Mutation_p.T428M	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	583	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				AGTGCTGTGCGTCTTCATGTG	0.592													A	44589289	G	A	44589289	3	1	248	1	0	0	0	0	1	0	0	0	17849	1145	40	1	2348	1	ZNF335	20	44589289	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	65621	44589289	18436231	1685	123692											
SLC13A3	64849	broad.mit.edu	37	chr20	45192166	45192166	+	Frame_Shift_Del	DEL	G	G	-													gcccggaatcatcagatacaGggggtgcactctcaggcgga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:45192166delG	uc002xsf.1	-	12	1557	c.1519delC	c.(1519-1521)CTGfs	p.L507fs	SLC13A3_uc010ghn.1_Frame_Shift_Del_p.L476fs|SLC13A3_uc010zxw.1_Frame_Shift_Del_p.L457fs|SLC13A3_uc002xsg.1_Frame_Shift_Del_p.L460fs|SLC13A3_uc010gho.1_Frame_Shift_Del_p.L425fs|SLC13A3_uc010zxx.1_Frame_Shift_Del_p.L409fs|SLC13A3_uc002xse.1_5'UTR|SLC13A3_uc010ghm.1_Frame_Shift_Del_p.L94fs|SLC13A3_uc010zxv.1_Frame_Shift_Del_p.L92fs	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	507	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATCAGATACAGGGGGTGCACT	0.567													-	45192166	G	-	45192166	7	5	248	1	0	1	0	1	0	0	0	0	14393	991	35	0	297	0	SLC13A3	20	45192166	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	602877	45192166	17833354	1686	123693											
SULF2	55959	broad.mit.edu	37	chr20	46318966	46318966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaccatgaggactggcCtgtgcgggtacatcttcttg	13	9	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:46318966C>A	uc002xto.2	-	5	971	c.641G>T	c.(640-642)AGG>ATG	p.R214M	SULF2_uc002xtr.2_Missense_Mutation_p.R214M|SULF2_uc002xtq.2_Missense_Mutation_p.R214M|SULF2_uc010ghv.1_Missense_Mutation_p.R214M	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	214					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			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GAGGACTGGCCTGTGCGGGTA	0.567													A	46318966	C	A	46318966	3	1	248	1	0	0	0	0	1	0	0	0	15370	681	24	5	2039	5	SULF2	20	46318966	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1126800	46318966	16706554	1687	123694											
DDX27	55661	broad.mit.edu	37	chr20	47858673	47858673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagatgtttgctgaacgGctagcgaagaggaatcgcag	15	8	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:47858673G>A	uc002xuh.2	+	18	2200	c.2139G>A	c.(2137-2139)CGG>CGA	p.R713R		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	713						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGCTGAACGGCTAGCGAAGA	0.587													A	47858673	G	A	47858673	2	1	248	1	0	0	0	0	0	0	0	1	4354	1190	42	2		2	DDX27	20	47858673	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1539707	47858673	15166847	1688	123695											
MOCS3	27304	broad.mit.edu	37	chr20	49576279	49576279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcgactgtgcagcttgCggggaacggcccactgtgac	15	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:49576279C>T	uc002xvy.1	+	1	917	c.900C>T	c.(898-900)TGC>TGT	p.C300C	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	300		Zinc (By similarity).			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			skin(2)|ovary(1)	3						GTGCAGCTTGCGGGGAACGGC	0.592													T	49576279	C	T	49576279	2	4	248	1	0	0	0	0	0	0	0	1	9692	776	27	1		1	MOCS3	20	49576279	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1717606	49576279	13449241	1689	123696											
NFATC2	4773	broad.mit.edu	37	chr20	50048652	50048652	+	Frame_Shift_Del	DEL	C	C	-													ctgctcctgtttaatggtcaCccccgcaggtaatacttcct							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:50048652delC	uc002xwd.2	-	9	2894	c.2674delG	c.(2674-2676)GTGfs	p.V892fs	NFATC2_uc002xwc.2_Frame_Shift_Del_p.V892fs|NFATC2_uc010zyv.1_Frame_Shift_Del_p.V673fs|NFATC2_uc010zyw.1_Frame_Shift_Del_p.V673fs|NFATC2_uc010zyx.1_Frame_Shift_Del_p.V872fs|NFATC2_uc010zyy.1_Frame_Shift_Del_p.V673fs|NFATC2_uc010zyz.1_Frame_Shift_Del_p.V673fs|NFATC2_uc002xwe.2_Frame_Shift_Del_p.V872fs	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	892					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			ovary(2)	2	Hepatocellular(150;0.248)					TTAATGGTCACCCCCGCAGGT	0.512													-	50048652	C	-	50048652	7	5	248	1	0	1	0	1	0	0	0	0	10362	507	18	0	159	0	NFATC2	20	50048652	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	472373	50048652	12976868	1690	123697											
ATP9A	10079	broad.mit.edu	37	chr20	50287727	50287727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcgaaccacggtcccGgggattttcgagtcccttcg	13	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:50287727G>A	uc002xwg.1	-	12	1107	c.1107C>T	c.(1105-1107)CCC>CCT	p.P369P	ATP9A_uc010gih.1_Silent_p.P233P|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	369	Cytoplasmic (Potential).				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			ovary(4)	4						CCACGGTCCCGGGGATTTTCG	0.547													A	50287727	G	A	50287727	2	1	248	1	0	0	0	0	0	0	0	1	1198	1103	39	1		1	ATP9A	20	50287727	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	239075	50287727	12737793	1691	123698											
MC3R	4159	broad.mit.edu	37	chr20	54824419	54824419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctgggtctgctgcggcGtctgtggcgtggtgttcatc	15	11	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:54824419G>A	uc002xxb.2	+	1	632	c.520G>A	c.(520-522)GTC>ATC	p.V174I		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	211	Helical; Name=4; (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CTGCTGCGGCGTCTGTGGCGT	0.562													A	54824419	G	A	54824419	3	1	248	1	0	0	0	0	1	0	0	0	9365	1145	40	1	522	1	MC3R	20	54824419	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4536692	54824419	8201101	1692	123699											
CTCFL	140690	broad.mit.edu	37	chr20	56099011	56099011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaagtgaagtgcaccGtctgcagggtcaggatgtac	13	9	3	2	rs144712440		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:56099011G>A	uc010gix.1	-	1	913	c.251C>T	c.(250-252)ACG>ATG	p.T84M	CTCFL_uc010giw.1_Missense_Mutation_p.T84M|CTCFL_uc002xym.2_Missense_Mutation_p.T84M|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.T84M|CTCFL_uc010gjb.1_Missense_Mutation_p.T84M|CTCFL_uc010gjc.1_Missense_Mutation_p.T84M|CTCFL_uc010gjd.1_Missense_Mutation_p.T84M|CTCFL_uc010gje.2_Missense_Mutation_p.T84M|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.T84M|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.T84M|CTCFL_uc010gjk.1_Missense_Mutation_p.T84M|CTCFL_uc010gjl.1_Missense_Mutation_p.T84M	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	84					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			ovary(2)|large_intestine(1)|skin(1)	4	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)			GAAGTGCACCGTCTGCAGGGT	0.597													A	56099011	G	A	56099011	3	1	248	1	0	0	0	0	1	0	0	0	4001	1145	40	1	1780	1	CTCFL	20	56099011	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1274592	56099011	6926509	1693	123700											
STX16	8675	broad.mit.edu	37	chr20	57244419	57244419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccgagcaggaggggCggctgcttgggaacgtggtg	19	10	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:57244419C>T	uc002xzi.2	+	5	1201	c.466C>T	c.(466-468)CGG>TGG	p.R156W	STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Missense_Mutation_p.R139W|STX16_uc002xzm.2_Missense_Mutation_p.R152W|STX16_uc002xzj.2_Missense_Mutation_p.R135W|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	156	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GCAGGAGGGGCGGCTGCTTGG	0.687													T	57244419	C	T	57244419	3	4	248	1	0	0	0	0	1	0	0	0	15338	759	27	1	484	1	STX16	20	57244419	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1145408	57244419	5781101	1694	123701											
GNAS	2778	broad.mit.edu	37	chr20	57429071	57429071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttatcgcacaagtcgacGgcagcagccagttcgcggca	13	12	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:57429071G>A	uc002xzw.2	+	1	1036	c.751G>A	c.(751-753)GGC>AGC	p.G251S	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAAGTCGACGGCAGCAGCCA	0.677			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57429071	G	A	57429071	3	1	248	1	0	0	0	0	1	0	0	0	6510	1116	39	1	1495	1	GNAS	20	57429071	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	184652	57429071	5596449	1695	123702											
ZNF831	128611	broad.mit.edu	37	chr20	57768358	57768358	+	Frame_Shift_Del	DEL	C	C	-													tggaactggggtggcagatgCccccagcacctggccccctc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:57768358delC	uc002yan.2	+	1	2284	c.2284delC	c.(2284-2286)CCCfs	p.P762fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	762						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GTGGCAGATGCCCCCAGCACC	0.642													-	57768358	C	-	57768358	7	5	248	1	0	1	0	1	0	0	0	0	18182	739	26	0	2286	0	ZNF831	20	57768358	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	339287	57768358	5257162	1696	123703											
LAMA5	3911	broad.mit.edu	37	chr20	60892478	60892478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagacgcagcttgctgccCgccggggagaaggtctgcat	14	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:60892478C>T	uc002ycq.2	-	55	7501	c.7434G>A	c.(7432-7434)GCG>GCA	p.A2478A		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2478	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTGCTGCCCGCCGGGGAGA	0.677													T	60892478	C	T	60892478	2	4	248	1	0	0	0	0	0	0	0	1	8609	639	23	1		1	LAMA5	20	60892478	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3124120	60892478	2133042	1697	123704											
NTSR1	4923	broad.mit.edu	37	chr20	61386229	61386229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctgcggcacggcgtgCgcgtcctacgtacgtaacct	13	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:61386229C>T	uc002ydf.2	+	2	1278	c.907C>T	c.(907-909)CGC>TGC	p.R303C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	303	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGGCGTGCGCGTCCTACG	0.697													T	61386229	C	T	61386229	3	4	248	1	0	0	0	0	1	0	0	0	10710	768	27	1	913	1	NTSR1	20	61386229	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	493751	61386229	1639291	1698	123705											
COL9A3	1299	broad.mit.edu	37	chr20	61467614	61467614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgttcagggtgtccccGggccccccggtcctctgggc	16	16	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:61467614G>A	uc002ydm.2	+	28	1480	c.1477G>A	c.(1477-1479)GGG>AGG	p.G493R	COL9A3_uc002ydn.2_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	493	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					GGGTGTCCCCGGGCCCCCCGG	0.677													A	61467614	G	A	61467614	3	1	248	1	0	0	0	0	1	0	0	0	3709	1116	39	1	1587	1	COL9A3	20	61467614	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	81385	61467614	1557906	1699	123706											
DIDO1	11083	broad.mit.edu	37	chr20	61511147	61511147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggggccctgtccgggcGcactggaggagagcgcggag	19	13	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:61511147G>A	uc002ydr.1	-	16	6425	c.6161C>T	c.(6160-6162)GCG>GTG	p.A2054V	DIDO1_uc002yds.1_Missense_Mutation_p.A2054V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2054					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTGTCCGGGCGCACTGGAGGA	0.716													A	61511147	G	A	61511147	3	1	248	1	0	0	0	0	1	0	0	0	4522	1087	38	1	565	1	DIDO1	20	61511147	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	43533	61511147	1514373	1700	123707											
GMEB2	26205	broad.mit.edu	37	chr20	62226976	62226976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctaccgtcggctgcggcGggcgtgaggggaatgtactc	16	12	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62226976G>A	uc002yfp.1	-	5	1085	c.606C>T	c.(604-606)CCC>CCT	p.P202P	GMEB2_uc002yfo.1_Silent_p.P124P|GMEB2_uc002yfq.1_Silent_p.P202P	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	202					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	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)			CGGCTGCGGCGGGCGTGAGGG	0.672													A	62226976	G	A	62226976	2	1	248	1	0	0	0	0	0	0	0	1	6488	1103	39	1		1	GMEB2	20	62226976	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	715829	62226976	798544	1701	123708											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62373773	62373773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggacacgctgaccgaCgggctgtccagcctgactcc	14	14	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62373773C>T	uc002ygq.2	+	6	820	c.765C>T	c.(763-765)GAC>GAT	p.D255D	SLC2A4RG_uc002ygr.2_Silent_p.D150D|SLC2A4RG_uc011abj.1_Silent_p.D150D|SLC2A4RG_uc002ygs.2_Silent_p.D57D|SLC2A4RG_uc002ygt.2_Intron	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	255	Nuclear export signal.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CGCTGACCGACGGGCTGTCCA	0.592													T	62373773	C	T	62373773	2	4	248	1	0	0	0	0	0	0	0	1	14547	535	19	1		1	SLC2A4RG	20	62373773	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	146797	62373773	651747	1702	123709											
TPD52L2	7165	broad.mit.edu	37	chr20	62500675	62500675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgaattctcctaacaaaGgtctgctgtctgactccatg	7	12	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62500675G>T	uc002yhc.2	+	2	175	c.46G>T	c.(46-48)GGT>TGT	p.G16C	TPD52L2_uc002ygy.2_Missense_Mutation_p.G16C|TPD52L2_uc002ygz.2_Missense_Mutation_p.G16C|TPD52L2_uc002yha.2_Missense_Mutation_p.G16C|TPD52L2_uc002yhb.2_Missense_Mutation_p.G16C|TPD52L2_uc002yhd.2_Missense_Mutation_p.G16C|TPD52L2_uc011abk.1_Translation_Start_Site|TPD52L2_uc011abl.1_Intron	NM_003288	NP_003279	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform e	16					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)|skin(1)	2	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCCTAACAAAGGTCTGCTGTC	0.498													T	62500675	G	T	62500675	3	4	248	1	0	0	0	0	1	0	0	0	16396	1000	35	5	52	5	TPD52L2	20	62500675	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	126902	62500675	524845	1703	123710											
RGS19	10287	broad.mit.edu	37	chr20	62705236	62705237	+	Frame_Shift_Ins	INS	-	-	A													aggaggactgtgatggccccINStgcagcagcagggcacggta							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62705236_62705237insA	uc002yhy.2	-	6	890_891	c.623_624insT	c.(622-624)CAGfs	p.Q208fs	RGS19_uc002yhz.2_Frame_Shift_Ins_p.Q186fs|RGS19_uc002yia.2_Frame_Shift_Ins_p.Q208fs|RGS19_uc002yib.2_Frame_Shift_Ins_p.Q208fs	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	208	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTGATGGCCCCTGCAGCAGCAG	0.663													A	62705237	-	A	62705236	7	5	248	1	0	1	1	0	0	0	0	0	13301	680	24	0	33	0	RGS19	20	62705236	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	204561	62705236	320284	1704	123711	646	2									
RGS19	10287	broad.mit.edu	37	chr20	62705237	62705238	+	Frame_Shift_Ins	INS	-	-	A													ggaggactgtgatggcccctINSgcagcagcagggcacggtag							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62705236_62705237C>CA	uc002yhy.3	-	5	890_891	c.623_624G>TG	c.(622-624)cagfs	p.Q208fs	RGS19_uc002yhz.3_Frame_Shift_Ins_p.Q186fs|RGS19_uc002yib.3_Frame_Shift_Ins_p.Q208fs	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	208	Interaction with GIPC.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTGATGGCCCCTGCAGCAGCAG	0.663													A	62705238	-	A	62705237	7	5	248	1	0	1	1	0	0	0	0	0	13301	1580	55	0	34	0	RGS19	20	62705237	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	62705237	320283	1705	123712	646	2									
NRIP1	8204	broad.mit.edu	37	chr21	16338717	16338717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttttgtaaggtccatTgagtggttagatgcagtatt	11	4	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:16338717T>C	uc002yjx.2	-	4	2395	c.1797A>G	c.(1795-1797)TCA>TCG	p.S599S		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	599	Repression domain 2.|CTBP-binding (Potential).			SMDLT->PIAAS: Does not further disrupt transcriptional repression; when associated with 442-AA-443 and 567-AA- 568.	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				0				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)		TAAGGTCCATTGAGTGGTTAG	0.433													C	16338717	T	C	16338717	2	2	248	1	0	0	0	0	0	0	0	1	10652	1799	63	3		3	NRIP1	21	16338717	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08		16338717	31791178	1706	123713											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666606	19666606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatacacgcagtgtgcggCggacaccagccagtcactgc	11	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:19666606C>T	uc002ykw.2	-	21	2498	c.2467G>A	c.(2467-2469)GCC>ACC	p.A823T		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	823	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CAGTGTGCGGCGGACACCAGC	0.577													T	19666606	C	T	19666606	3	4	248	1	0	0	0	0	1	0	0	0	16243	768	27	1	612	1	TMPRSS15	21	19666606	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3327889	19666606	28463289	1707	123714											
APP	351	broad.mit.edu	37	chr21	27423345	27423346	+	Frame_Shift_Ins	INS	-	-	C													catagtctgtgtctgctccgINSccccaccagacatccgagtc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:27423345_27423346insC	uc002ylz.2	-	5	832_833	c.632_633insG	c.(631-633)GGCfs	p.G211fs	APP_uc010glk.2_Frame_Shift_Ins_p.G206fs|APP_uc002yma.2_Frame_Shift_Ins_p.G211fs|APP_uc011ach.1_Frame_Shift_Ins_p.G155fs|APP_uc002ymb.2_Frame_Shift_Ins_p.G211fs|APP_uc010glj.2_Frame_Shift_Ins_p.G155fs|APP_uc011aci.1_Frame_Shift_Ins_p.G176fs|APP_uc011acj.1_Frame_Shift_Ins_p.G211fs	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	211	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGTCTGCTCCGCCCCACCAGAC	0.495													C	27423346	-	C	27423345	7	5	248	1	0	1	1	0	0	0	0	0	815	1074	38	0	1735	0	APP	21	27423345	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	7756739	27423345	20706550	1708	123715	647	2									
APP	351	broad.mit.edu	37	chr21	27423346	27423347	+	Frame_Shift_Ins	INS	-	-	C													atagtctgtgtctgctccgcINScccaccagacatccgagtca							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:27423345_27423346G>GC	uc002ylz.3	-	4	832_833	c.632_633C>GC	c.(631-633)ggcfs	p.G211fs	APP_uc010glk.3_Frame_Shift_Ins_p.G206fs|APP_uc002yma.3_Frame_Shift_Ins_p.G211fs|APP_uc011ach.2_Frame_Shift_Ins_p.G155fs|APP_uc021whz.1_Frame_Shift_Ins_p.G211fs|APP_uc021wia.1_Frame_Shift_Ins_p.G211fs|APP_uc002ymb.3_Frame_Shift_Ins_p.G211fs|APP_uc010glj.3_Frame_Shift_Ins_p.G155fs|APP_uc021wib.1_Frame_Shift_Ins_p.G211fs|APP_uc011aci.2_Frame_Shift_Ins_p.G176fs|APP_uc011acj.2_Frame_Shift_Ins_p.G211fs	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	211					G2 phase of mitotic cell cycle|Notch signaling pathway|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|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|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	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein 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)				TGTCTGCTCCGCCCCACCAGAC	0.495													C	27423347	-	C	27423346	7	5	248	1	0	1	1	0	0	0	0	0	815	739	26	0	1736	0	APP	21	27423346	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	1	27423346	20706549	1709	123716	647	2									
CYYR1	116159	broad.mit.edu	37	chr21	27938592	27938592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgaatactcacgagaggaTattcccaatataagcgtagt	9	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:27938592T>C	uc002ymd.2	-	2	491	c.169A>G	c.(169-171)ATC>GTC	p.I57V	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.I57V	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	57	Extracellular (Potential).					integral to membrane					0						CACGAGAGGATATTCCCAATA	0.428													C	27938592	T	C	27938592	3	2	248	1	0	0	0	0	1	0	0	0	4211	1406	49	3	307	3	CYYR1	21	27938592	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	515246	27938592	20191303	1710	123717											
GCFC1	94104	broad.mit.edu	37	chr21	34131455	34131455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgcaaaaatttatacCgttcaccaatacccccagaa	3	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:34131455C>T	uc002yqn.2	-	7	1509	c.1319G>A	c.(1318-1320)CGG>CAG	p.R440Q	GCFC1_uc002yqm.2_5'Flank|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.R440Q	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	440						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AAATTTATACCGTTCACCAAT	0.403													T	34131455	C	T	34131455	3	4	248	1	0	0	0	0	1	0	0	0	6289	652	23	1	1600	1	GCFC1	21	34131455	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	6192863	34131455	13998440	1711	123718											
DOPEY2	9980	broad.mit.edu	37	chr21	37665661	37665661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatgaagagtgaattccCgcttctgcgccaacattctg	8	13	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:37665661C>T	uc002yvg.2	+	37	6768	c.6689C>T	c.(6688-6690)CCG>CTG	p.P2230L	DOPEY2_uc011aeb.1_Missense_Mutation_p.P2179L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2230					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGTGAATTCCCGCTTCTGCGC	0.453													T	37665661	C	T	37665661	3	4	248	1	0	0	0	0	1	0	0	0	4708	652	23	1	6831	1	DOPEY2	21	37665661	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3534206	37665661	10464234	1712	123719											
DYRK1A	1859	broad.mit.edu	37	chr21	38853059	38853059	+	Frame_Shift_Del	DEL	A	A	-													gataactatgattatattgtAaaaaacggagaaaagtggat							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:38853058_38853058TA>T	uc002ywk.3	+	3	522	c.446_446TA>T	c.(445-447)gtafs	p.V149fs	DYRK1A_uc002ywh.1_Frame_Shift_Del_p.V111fs|DYRK1A_uc002ywi.3_Frame_Shift_Del_p.V149fs|DYRK1A_uc002ywj.3_Frame_Shift_Del_p.V140fs|DYRK1A_uc002ywm.3_Frame_Shift_Del_p.V149fs	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	149					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						GATTATATTGTAAAAAACGGA	0.378													-	38853059	A	-	38853059	7	5	248	1	0	1	0	1	0	0	0	0	4854	349	13	0	461	0	DYRK1A	21	38853059	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	1187398	38853059	9276836	1713	123720											
BRWD1	54014	broad.mit.edu	37	chr21	40578077	40578077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctttacaattttgccGttgcttgaacctctggcttc	7	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:40578077G>A	uc002yxk.1	-	37	4460	c.4321C>T	c.(4321-4323)CGG>TGG	p.R1441W	BRWD1_uc010goc.1_Missense_Mutation_p.R84W|BRWD1_uc002yxl.2_Missense_Mutation_p.R1441W|BRWD1_uc010god.1_Missense_Mutation_p.R359W	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATTTTGCCGTTGCTTGAAC	0.294													A	40578077	G	A	40578077	3	1	248	1	0	0	0	0	1	0	0	0	1525	1144	40	1	2904	1	BRWD1	21	40578077	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1725018	40578077	7551818	1714	123721											
BRWD1	54014	broad.mit.edu	37	chr21	40685223	40685223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcgataaggaagtacaGctctgcgggaagacaaggag	16	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:40685223G>T	uc002yxk.1	-	2	191	c.52C>A	c.(52-54)CTG>ATG	p.L18M	BRWD1_uc002yxl.2_Missense_Mutation_p.L18M|BRWD1_uc002yxm.2_Missense_Mutation_p.L18M	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGAAGTACAGCTCTGCGGGA	0.582													T	40685223	G	T	40685223	3	4	248	1	0	0	0	0	1	0	0	0	1525	962	34	5	7327	5	BRWD1	21	40685223	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	107146	40685223	7444672	1715	123722											
IGSF5	150084	broad.mit.edu	37	chr21	41151084	41151084	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttaggtttttcattgccTacttggggcaaagttggact	11	6	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:41151084T>C	uc002yyo.2	+	5	889	c.786T>C	c.(784-786)CCT>CCC	p.P262P		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	262	Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				TTTCATTGCCTACTTGGGGCA	0.333													C	41151084	T	C	41151084	2	2	248	1	0	0	0	0	0	0	0	1	7602	1509	53	3		3	IGSF5	21	41151084	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	465861	41151084	6978811	1716	123723											
MX1	4599	broad.mit.edu	37	chr21	42817381	42817381	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccattttcctcagaaatctCtgcccctgttagaaaatcaa	4	12	3	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:42817381C>T	uc002yzh.2	+	14	1962	c.1015C>T	c.(1015-1017)CTG>TTG	p.L339L	MX1_uc002yzi.2_Silent_p.L339L|MX1_uc010goq.2_Silent_p.L339L	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	339					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCAGAAATCTCTGCCCCTGTT	0.423													T	42817381	C	T	42817381	2	4	248	1	0	0	0	0	0	0	0	1	9997	912	32	4		4	MX1	21	42817381	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1666297	42817381	5312514	1717	123724											
ZNF295	49854	broad.mit.edu	37	chr21	43411985	43411985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttccggcacagccgctcGtggcttccttgctctaggag	13	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:43411985G>A	uc002zab.3	-	3	2434	c.2220C>T	c.(2218-2220)CAC>CAT	p.H740H	ZNF295_uc002yzz.3_Silent_p.H539H|ZNF295_uc002yzy.3_Silent_p.H740H|ZNF295_uc002zaa.3_Silent_p.H740H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	740					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACAGCCGCTCGTGGCTTCCTT	0.537													A	43411985	G	A	43411985	2	1	248	1	0	0	0	0	0	0	0	1	17824	1136	40	1		1	ZNF295	21	43411985	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	594604	43411985	4717910	1718	123725											
UMODL1	89766	broad.mit.edu	37	chr21	43531622	43531622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccctggacagctacagGgaaactccatcatggagcca	9	15	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:43531622G>A	uc002zaf.1	+	12	1906	c.1906G>A	c.(1906-1908)GGA>AGA	p.G636R	UMODL1_uc002zad.1_Missense_Mutation_p.G564R|UMODL1_uc002zae.1_Missense_Mutation_p.G692R|UMODL1_uc002zag.1_Missense_Mutation_p.G764R|C21orf128_uc002zak.2_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	636	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						ACAGCTACAGGGAAACTCCAT	0.637													A	43531622	G	A	43531622	3	1	248	1	0	0	0	0	1	0	0	0	16977	1233	43	4	2332	4	UMODL1	21	43531622	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	119637	43531622	4598273	1719	123726											
UBASH3A	53347	broad.mit.edu	37	chr21	43863426	43863426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcatccttccaggcccGcgtttcccctgtccgccctc	6	21	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:43863426G>A	uc002zbe.2	+	13	1672	c.1636G>A	c.(1636-1638)GCG>ACG	p.A546T	UBASH3A_uc002zbf.2_Missense_Mutation_p.A508T|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	546	Phosphatase-like.					cytosol|nucleus		p.A546V(1)		ovary(3)	3						TTCCAGGCCCGCGTTTCCCCT	0.592													A	43863426	G	A	43863426	3	1	248	1	0	0	0	0	1	0	0	0	16836	1087	38	1	1686	1	UBASH3A	21	43863426	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	331804	43863426	4266469	1720	123727											
AIRE	326	broad.mit.edu	37	chr21	45708227	45708227	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgggtgttccctttcccaGggattcagaccatgtcagct	10	11	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:45708227G>T	uc002zei.2	+	5	666	c.539_splice	c.e5-1	p.G180_splice	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		CCCTTTCCCAGGGATTCAGAC	0.617									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				T	45708227	G	T	45708227	5	4	248	1	0	0	0	0	0	0	1	0	437	1014	35	5	556	5	AIRE	21	45708227	Splice_Site	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1844801	45708227	2421668	1721	123728											
AIRE	326	broad.mit.edu	37	chr21	45713760	45713760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctgccttccactggcGctgccacttcccagccggca	10	20	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:45713760G>A	uc002zei.2	+	11	1494	c.1367G>A	c.(1366-1368)CGC>CAC	p.R456H	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.R259H|AIRE_uc010gpr.2_Missense_Mutation_p.R259H	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	456	PHD-type 2.			CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		TTCCACTGGCGCTGCCACTTC	0.577									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				A	45713760	G	A	45713760	3	1	248	1	0	0	0	0	1	0	0	0	437	1087	38	1	1697	1	AIRE	21	45713760	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	5533	45713760	2416135	1722	123729											
COL6A2	1292	broad.mit.edu	37	chr21	47552078	47552078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcgagcagcaggtggCcttcccgctgagccacaacc	12	18	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:47552078C>T	uc002zia.1	+	28	2754	c.2672C>T	c.(2671-2673)GCC>GTC	p.A891V	COL6A2_uc002zib.1_Missense_Mutation_p.A297V|COL6A2_uc002zic.1_5'UTR|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	891	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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGCAGGTGGCCTTCCCGCTG	0.697													T	47552078	C	T	47552078	3	4	248	1	0	0	0	0	1	0	0	0	3700	739	26	2	3108	2	COL6A2	21	47552078	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1838318	47552078	577817	1723	123730											
PRMT2	3275	broad.mit.edu	37	chr21	48068520	48068520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgtgcacactatgcgCggcctagagcggtgagtggg	15	10	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:48068520C>T	uc002zjx.2	+	6	792	c.478C>T	c.(478-480)CGG>TGG	p.R160W	PRMT2_uc002zjw.2_Missense_Mutation_p.R160W|PRMT2_uc002zjy.2_Missense_Mutation_p.R160W|PRMT2_uc010gqm.2_Missense_Mutation_p.R160W|PRMT2_uc011aga.1_Missense_Mutation_p.R160W|PRMT2_uc011agb.1_Missense_Mutation_p.R160W|PRMT2_uc011agc.1_Missense_Mutation_p.R160W|PRMT2_uc002zjz.1_Missense_Mutation_p.R46W	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	160	Interaction with RB1 (By similarity).|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			ovary(1)	1	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)		ACACTATGCGCGGCCTAGAGC	0.582													T	48068520	C	T	48068520	3	4	248	1	0	0	0	0	1	0	0	0	12537	759	27	1	492	1	PRMT2	21	48068520	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	516442	48068520	61375	1724	123731											
CCT8L2	150160	broad.mit.edu	37	chr22	17072177	17072177	+	Frame_Shift_Del	DEL	T	T	-													gcttcctttatcagaaagcaTttttgccaaagccatttctg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:17072177delT	uc002zlp.1	-	1	1524	c.1264delA	c.(1264-1266)ATGfs	p.M422fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	422					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	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)				TCAGAAAGCATTTTTGCCAAA	0.502													-	17072177	T	-	17072177	7	5	248	1	0	1	0	1	0	0	0	0	2961	1493	52	0	413	0	CCT8L2	22	17072177	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08		17072177	34232389	1725	123732											
ATP6V1E1	529	broad.mit.edu	37	chr22	18081008	18081008	+	Frame_Shift_Del	DEL	T	T	-													caatttggacatcaacatcgTttttggtggcaattttgtac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:18081007_18081007GT>G	uc002zmr.1	-	6	670	c.483_483AC>C	c.(481-483)aacfs	p.N161fs	ATP6V1E1_uc002zms.1_Frame_Shift_Del_p.N131fs|ATP6V1E1_uc002zmt.1_Frame_Shift_Del_p.N139fs	NM_001696	NP_001687	P36543	VATE1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 (ATP6V1E1), transcript variant 1, mRNA.	161					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)		CATCAACATCGTTTTTGGTGG	0.463													-	18081008	T	-	18081008	7	5	248	1	0	1	0	1	0	0	0	0	1183	1725	60	0	210	0	ATP6V1E1	22	18081008	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	1008831	18081008	33223558	1726	123733											
CLDN5	7122	broad.mit.edu	37	chr22	19511720	19511720	+	Frame_Shift_Del	DEL	C	C	-													gcccgcacgccaggatcagaCccccccagcccaccaggcac							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:19511720delC	uc002zpu.2	-	2	529	c.314delG	c.(313-315)GGTfs	p.G105fs	CLDN5_uc010grr.2_Frame_Shift_Del_p.G105fs	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	20	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CAGGATCAGACCCCCCCAGCC	0.687													-	19511720	C	-	19511720	7	5	248	1	0	1	0	1	0	0	0	0	3488	507	18	0	601	0	CLDN5	22	19511720	Frame_Shift_Del	DEL	C	TCGA-FP-A4BE-01A-12D-A24D-08	1430712	19511720	31792846	1727	123734											
ARVCF	421	broad.mit.edu	37	chr22	19969137	19969137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacgcagcaggaaatgccGgtccagggcaccatctgcaa	11	14	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:19969137G>A	uc002zqz.2	-	5	764	c.493C>T	c.(493-495)CGG>TGG	p.R165W	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.R165W	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	165					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					AGGAAATGCCGGTCCAGGGCA	0.682													A	19969137	G	A	19969137	3	1	248	1	0	0	0	0	1	0	0	0	1003	1115	39	1	2455	1	ARVCF	22	19969137	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	457417	19969137	31335429	1728	123735											
SLC7A4	6545	broad.mit.edu	37	chr22	21385312	21385312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcacagaccgccgtgGgttctgggcctcctcactgg	14	14	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:21385312G>T	uc002zud.2	-	2	858	c.790C>A	c.(790-792)CCA>ACA	p.P264T	SLC7A4_uc002zue.2_Missense_Mutation_p.P264T	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	264					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCGCCGTGGGTTCTGGGCC	0.627													T	21385312	G	T	21385312	3	4	248	1	0	0	0	0	1	0	0	0	14699	1232	43	5	1133	5	SLC7A4	22	21385312	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1416175	21385312	29919254	1729	123736											
PPM1F	9647	broad.mit.edu	37	chr22	22277609	22277609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggaagaccaccatgacCgtgatgttgtcgtgggagcc	14	10	0	4			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:22277609C>T	uc002zvp.1	-	8	1335	c.1221G>A	c.(1219-1221)ACG>ACA	p.T407T	PPM1F_uc011aik.1_Silent_p.T303T	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	407					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCACCATGACCGTGATGTTGT	0.692													T	22277609	C	T	22277609	2	4	248	1	0	0	0	0	0	0	0	1	12339	639	23	1		1	PPM1F	22	22277609	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	892297	22277609	29026957	1730	123737											
GNAZ	2781	broad.mit.edu	37	chr22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggggcagaggtcagagcGcaaaaagtggatccactgct	17	8	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:23438508G>A	uc002zwu.1	+	2	1163	c.626G>A	c.(625-627)CGC>CAC	p.R209H	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	209						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			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562													A	23438508	G	A	23438508	3	1	248	1	0	0	0	0	1	0	0	0	6514	1087	38	1	628	1	GNAZ	22	23438508	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1160899	23438508	27866058	1731	123738											
CABIN1	23523	broad.mit.edu	37	chr22	24472130	24472130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctagggatgtcagagaCgcccatgctcccatcctccc	8	17	1	1	rs41310246	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:24472130C>T	uc002zzi.1	+	19	2772	c.2645C>T	c.(2644-2646)ACG>ATG	p.T882M	CABIN1_uc002zzj.1_Missense_Mutation_p.T832M|CABIN1_uc002zzl.1_Missense_Mutation_p.T882M	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	882					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ATGTCAGAGACGCCCATGCTC	0.592													T	24472130	C	T	24472130	3	4	248	1	0	0	0	0	1	0	0	0	2528	536	19	1	2715	1	CABIN1	22	24472130	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1033622	24472130	26832436	1732	123739											
TPST2	8459	broad.mit.edu	37	chr22	26932299	26932299	+	Frame_Shift_Del	DEL	G	G	-													gggtcagggttgccatagttGggggggtttgcataagggtc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:26932298_26932298TG>T	uc003acw.3	-	3	1338	c.997_997CA>A	c.(997-999)aacfs	p.N333fs	TPST2_uc003acx.3_Frame_Shift_Del_p.N333fs	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	333					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTT	0.582													-	26932299	G	-	26932299	7	5	248	1	0	1	0	1	0	0	0	0	16425	1335	47	0	149	0	TPST2	22	26932299	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	2460169	26932299	24372267	1733	123740											
RFPL1	5988	broad.mit.edu	37	chr22	29834824	29834824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactaacaggctttcacctcAcggaaattttcttcccttgt	5	12	3	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:29834824A>G	uc003afn.2	+	1	253	c.44A>G	c.(43-45)CAC>CGC	p.H15R	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	15							zinc ion binding				0						CTTTCACCTCACGGAAATTTT	0.463													G	29834824	A	G	29834824	3	3	248	1	0	0	0	0	1	0	0	0	13253	159	6	3	46	3	RFPL1	22	29834824	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2902525	29834824	21469742	1734	123741											
MTMR3	8897	broad.mit.edu	37	chr22	30416738	30416738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacacgatccaacagcgCctgcgtcagattgagtcagg	11	12	2	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:30416738C>T	uc003agv.3	+	17	3418	c.3090C>T	c.(3088-3090)CGC>CGT	p.R1030R	MTMR3_uc003agu.3_Silent_p.R1030R|MTMR3_uc003agw.3_Silent_p.R1030R	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1030	Potential.				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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCAACAGCGCCTGCGTCAGA	0.567													T	30416738	C	T	30416738	2	4	248	1	0	0	0	0	0	0	0	1	9945	726	26	2		2	MTMR3	22	30416738	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	581914	30416738	20887828	1735	123742											
TCN2	6948	broad.mit.edu	37	chr22	31011360	31011360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccctggtcggagacaacGgatcaccatggccatcagaa	10	13	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:31011360G>A	uc003aip.1	+	5	811	c.653G>A	c.(652-654)CGG>CAG	p.R218Q	TCN2_uc003aiq.1_Missense_Mutation_p.R214Q|TCN2_uc003air.1_Missense_Mutation_p.R191Q	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	218					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGAGACAACGGATCACCATG	0.552													A	31011360	G	A	31011360	3	1	248	1	0	0	0	0	1	0	0	0	15704	1116	39	1	671	1	TCN2	22	31011360	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	594622	31011360	20293206	1736	123743											
APOL5	80831	broad.mit.edu	37	chr22	36123049	36123049	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacatgagcagcttcctgCagagctggaagcacctggag	13	10	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:36123049C>T	uc003aof.2	+	3	934	c.934C>T	c.(934-936)CAG>TAG	p.Q312*		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	312					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						CAGCTTCCTGCAGAGCTGGAA	0.577													T	36123049	C	T	36123049	4	4	248	1	0	0	0	0	0	1	0	0	809	711	25	2	944	2	APOL5	22	36123049	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5111689	36123049	15181517	1737	123744											
TRIOBP	11078	broad.mit.edu	37	chr22	38120833	38120833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcgggacaatcccagagcctCctctcctaacagaaccatcc	7	17	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38120833C>A	uc003atr.2	+	7	2541	c.2270C>A	c.(2269-2271)TCC>TAC	p.S757Y	TRIOBP_uc003atu.2_Missense_Mutation_p.S585Y|TRIOBP_uc003atq.1_Missense_Mutation_p.S757Y|TRIOBP_uc003ats.1_Missense_Mutation_p.S585Y	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	757					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)	1	Melanoma(58;0.0574)					CCCAGAGCCTCCTCTCCTAAC	0.567													A	38120833	C	A	38120833	3	1	248	1	0	0	0	0	1	0	0	0	16550	855	30	5	2288	5	TRIOBP	22	38120833	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1997784	38120833	13183733	1738	123745											
TRIOBP	11078	broad.mit.edu	37	chr22	38130633	38130633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggtgtggcagagtcaGgaggaaccgccagggtccca	18	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38130633G>T	uc003atr.2	+	9	4561	c.4290G>T	c.(4288-4290)CAG>CAT	p.Q1430H	TRIOBP_uc003atu.2_Missense_Mutation_p.Q1258H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1430					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)	1	Melanoma(58;0.0574)					GGCAGAGTCAGGAGGAACCGC	0.662													T	38130633	G	T	38130633	3	4	248	1	0	0	0	0	1	0	0	0	16550	991	35	5	4316	5	TRIOBP	22	38130633	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	9800	38130633	13173933	1739	123746											
MICALL1	85377	broad.mit.edu	37	chr22	38322040	38322040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgcgcgcacccagcgcGtccccactgggtgagtgcct	13	19	0	1	rs149812469	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38322040G>A	uc003aui.2	+	8	1539	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	485	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CACCCAGCGCGTCCCCACTGG	0.667													A	38322040	G	A	38322040	2	1	248	1	0	0	0	0	0	0	0	1	9573	1132	40	1		1	MICALL1	22	38322040	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	191407	38322040	12982526	1740	123747											
SLC16A8	23539	broad.mit.edu	37	chr22	38478747	38478747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgaagtcgcgcatgagcGcgcggaagaagacgctcacg	15	12	1	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38478747G>A	uc003auu.2	-	2	264	c.134C>T	c.(133-135)GCG>GTG	p.A45V		NM_013356	NP_037488	O95907	MOT3_HUMAN	solute carrier family 16, member 8	45	Extracellular (Potential).				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity				0	Melanoma(58;0.045)				Pyruvic acid(DB00119)	GCGCATGAGCGCGCGGAAGAA	0.667													A	38478747	G	A	38478747	3	1	248	1	0	0	0	0	1	0	0	0	14414	1087	38	1	1396	1	SLC16A8	22	38478747	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	156707	38478747	12825819	1741	123748											
KCNJ4	3761	broad.mit.edu	37	chr22	38823979	38823979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcatgtagcgccagcgCgtgtccacgcaggtggtgaa	15	10	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38823979C>T	uc003avs.1	-	2	256	c.159G>A	c.(157-159)ACG>ACA	p.T53T	KCNJ4_uc003avt.1_Silent_p.T53T	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	53	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					AGCGCCAGCGCGTGTCCACGC	0.572													T	38823979	C	T	38823979	2	4	248	1	0	0	0	0	0	0	0	1	8053	755	27	1		1	KCNJ4	22	38823979	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	345232	38823979	12480587	1742	123749											
DMC1	11144	broad.mit.edu	37	chr22	38934340	38934340	+	Frame_Shift_Del	DEL	T	T	-													cgtgacaacatctgggccaaTttttgctgccgttcggccaa							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38934339_38934339AT>A	uc003avz.1	-	10	911	c.736_736AT>T	c.(736-738)ttgfs	p.L246fs	DMC1_uc011anv.1_Frame_Shift_Del_p.L191fs	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	246					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)					ATCTGGGCCAATTTTTGCTGC	0.383								Homologous recombination					-	38934340	T	-	38934340	7	5	248	1	0	1	0	1	0	0	0	0	4579	1490	52	0	303	0	DMC1	22	38934340	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	110361	38934340	12370226	1743	123750											
CBX7	23492	broad.mit.edu	37	chr22	39534654	39534654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttacctgcagcagaagcCgcttgggtttcggacctctc	12	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:39534654C>T	uc003axb.2	-	4	322	c.233G>A	c.(232-234)CGG>CAG	p.R78Q	CBX7_uc003axc.2_Missense_Mutation_p.R78Q	NM_175709	NP_783640	O95931	CBX7_HUMAN	chromobox homolog 7	78					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				ovary(1)	1	Melanoma(58;0.04)					CAGCAGAAGCCGCTTGGGTTT	0.577													T	39534654	C	T	39534654	3	4	248	1	0	0	0	0	1	0	0	0	2723	652	23	1	534	1	CBX7	22	39534654	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	600314	39534654	11769912	1744	123751											
PDGFB	5155	broad.mit.edu	37	chr22	39627738	39627738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacaccaggaagttggcGttggtgcggtctatgaggcg	17	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:39627738G>A	uc003axf.2	-	4	1334	c.345C>T	c.(343-345)AAC>AAT	p.N115N	PDGFB_uc003axe.2_Silent_p.N100N	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	115					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|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 activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	GGAAGTTGGCGTTGGTGCGGT	0.662			T	COL1A1	DFSP								A	39627738	G	A	39627738	2	1	248	1	0	0	0	0	0	0	0	1	11658	1136	40	1		1	PDGFB	22	39627738	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	93084	39627738	11676828	1745	123752											
GRAP2	9402	broad.mit.edu	37	chr22	40351855	40351855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaggagtggtttaaggcGgagcttgggagccaggaagg	19	5	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:40351855G>A	uc003ayh.1	+	3	374	c.111G>A	c.(109-111)GCG>GCA	p.A37A	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Silent_p.A37A|GRAP2_uc011aoo.1_Intron|GRAP2_uc011aop.1_Silent_p.A37A|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Silent_p.A37A	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	37	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GGTTTAAGGCGGAGCTTGGGA	0.463													A	40351855	G	A	40351855	2	1	248	1	0	0	0	0	0	0	0	1	6754	1103	39	1		1	GRAP2	22	40351855	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	724117	40351855	10952711	1746	123753											
XPNPEP3	63929	broad.mit.edu	37	chr22	41305152	41305152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaatgccgggctcgtggCgcagacattttagcctatcc	11	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:41305152C>T	uc003azh.2	+	6	974	c.882C>T	c.(880-882)GGC>GGT	p.G294G	XPNPEP3_uc011aox.1_3'UTR|XPNPEP3_uc003azi.2_Silent_p.G215G|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	294					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						GGGCTCGTGGCGCAGACATTT	0.478													T	41305152	C	T	41305152	2	4	248	1	0	0	0	0	0	0	0	1	17441	755	27	1		1	XPNPEP3	22	41305152	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	953297	41305152	9999414	1747	123754											
CYP2D6	1565	broad.mit.edu	37	chr22	42522927	42522927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgttcggggtggaagCggaagggcttctcccagacg	18	8	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:42522927C>T	uc003bce.2	-	8	1331	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R108H|CYP2D6_uc003bcf.2_Missense_Mutation_p.R363H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	414							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			breast(1)|skin(1)	2						GGGGTGGAAGCGGAAGGGCTT	0.622													T	42522927	C	T	42522927	3	4	248	1	0	0	0	0	1	0	0	0	4169	768	27	1	260	1	CYP2D6	22	42522927	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1217775	42522927	8781639	1748	123755											
ARFGAP3	26286	broad.mit.edu	37	chr22	43213780	43213781	+	Frame_Shift_Ins	INS	-	-	T													gagtctgtctgagtcaacatINStttttttgccactaatgttc							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:43213779_43213780A>AT	uc003bdd.2	-	9	1116_1117	c.896_897T>AT	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Ins_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Ins_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGAGTCAACATTTTTTTTGCC	0.361													T	43213781	-	T	43213780	7	5	248	1	0	1	1	0	0	0	0	0	851	1493	52	0	682	0	ARFGAP3	22	43213780	Frame_Shift_Ins	INS	-	TCGA-FP-A4BE-01A-12D-A24D-08	690853	43213780	8090786	1749	123756											
PKDREJ	10343	broad.mit.edu	37	chr22	46652619	46652619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagctgaacatggttcTcagcttacggcacaaatagg	10	9	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:46652619T>C	uc003bhh.2	-	1	6601	c.6601A>G	c.(6601-6603)AGA>GGA	p.R2201G		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	2201	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACATGGTTCTCAGCTTACGG	0.483													C	46652619	T	C	46652619	3	2	248	1	0	0	0	0	1	0	0	0	11970	1559	54	3	164	3	PKDREJ	22	46652619	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	3438839	46652619	4651947	1750	123757											
ZBED4	9889	broad.mit.edu	37	chr22	50277971	50277971	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaagatcccgtcccccgatCgaataacagaggagtctgtg	10	12	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50277971C>T	uc003bix.2	+	2	1131	c.661C>T	c.(661-663)CGA>TGA	p.R221*		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	221						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		GTCCCCCGATCGAATAACAGA	0.552													T	50277971	C	T	50277971	4	4	248	1	0	0	0	0	0	1	0	0	17517	876	31	1	663	1	ZBED4	22	50277971	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3625352	50277971	1026595	1751	123758											
ZBED4	9889	broad.mit.edu	37	chr22	50280140	50280140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagcccttcgaggctgcgAgccgggagatgagcacgcag	15	11	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50280140A>G	uc003bix.2	+	2	3300	c.2830A>G	c.(2830-2832)AGC>GGC	p.S944G		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	944						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		CGAGGCTGCGAGCCGGGAGAT	0.597													G	50280140	A	G	50280140	3	3	248	1	0	0	0	0	1	0	0	0	17517	304	11	3	2832	3	ZBED4	22	50280140	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	2169	50280140	1024426	1752	123759											
PANX2	56666	broad.mit.edu	37	chr22	50616542	50616542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccgcgcgcaggaagacGgccacggacacgctgatcgc	14	15	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50616542G>A	uc003bjn.3	+	2	1401	c.1401G>A	c.(1399-1401)ACG>ACA	p.T467T	PANX2_uc003bjp.3_Silent_p.T333T|PANX2_uc003bjo.3_Silent_p.T467T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	467	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCAGGAAGACGGCCACGGACA	0.617													A	50616542	G	A	50616542	2	1	248	1	0	0	0	0	0	0	0	1	11421	1103	39	1		1	PANX2	22	50616542	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	336402	50616542	688024	1753	123760											
TRABD	80305	broad.mit.edu	37	chr22	50633392	50633392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatatcgtgtgtccatgCtgaagatggacgagagcacg	13	9	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50633392C>T	uc003bjq.1	+	5	429	c.343C>T	c.(343-345)CTG>TTG	p.L115L	TRABD_uc003bjr.1_5'UTR|TRABD_uc003bjs.1_Silent_p.L115L|TRABD_uc003bjt.1_Silent_p.L115L|TRABD_uc003bju.1_Silent_p.L115L|TRABD_uc003bjv.2_Silent_p.L115L|TRABD_uc003bjw.1_Silent_p.L115L	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	115											0		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)		TGTGTCCATGCTGAAGATGGA	0.647													T	50633392	C	T	50633392	2	4	248	1	0	0	0	0	0	0	0	1	16432	796	28	2		2	TRABD	22	50633392	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	16850	50633392	671174	1754	123761											
PLXNB2	23654	broad.mit.edu	37	chr22	50722294	50722294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcgggcactcggaggTggtgttgcacagggcctcat	19	10	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50722294T>C	uc003bkv.3	-	14	2495	c.2389A>G	c.(2389-2391)ACC>GCC	p.T797A	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	797	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		CACTCGGAGGTGGTGTTGCAC	0.697													C	50722294	T	C	50722294	3	2	248	1	0	0	0	0	1	0	0	0	12124	1696	59	3	3223	3	PLXNB2	22	50722294	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	88902	50722294	582272	1755	123762											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51043431	51043431	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacctcgccggacagcccTgacctcactttctccaagaa	7	17	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:51043431T>C	uc003bmx.2	+	6	1821	c.1704T>C	c.(1702-1704)CCT>CCC	p.P568P	MAPK8IP2_uc003bmy.2_Silent_p.P541P|MAPK8IP2_uc011asc.1_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	568					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			large_intestine(2)|central_nervous_system(1)	3		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)		CGGACAGCCCTGACCTCACTT	0.652													C	51043431	T	C	51043431	2	2	248	1	0	0	0	0	0	0	0	1	9285	1580	55	3		3	MAPK8IP2	22	51043431	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	321137	51043431	261135	1756	123763											
PPP2R3B	28227	broad.mit.edu	37	chrX	295108	295108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgcgggcggcgtcacagCggctccaggtcctcgtcccc	13	18	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:295108C>T	uc004cpg.2	-	13	1923	c.1722G>A	c.(1720-1722)CCG>CCA	p.P574P	PPP2R3B_uc004cpf.2_Silent_p.P175P	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	574					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				0		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)				GGCGTCACAGCGGCTCCAGGT	0.706													T	295108	C	T	295108	2	4	248	1	0	0	0	0	0	0	0	1	12389	755	27	1		1	PPP2R3B	23	295108	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08		295108	154975452	1757	123764											
ASMTL	8623	broad.mit.edu	37	chrX	1531640	1531640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacctggcttgcagctctCggcgaccctgctgagtaact	10	15	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:1531640C>T	uc004cpx.1	-	12	1741	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	NCRNA00105_uc004cpv.2_RNA|NCRNA00105_uc004cpw.2_RNA|ASMTL_uc011mhe.1_Missense_Mutation_p.E468K|ASMTL_uc004cpy.1_Missense_Mutation_p.E528K|ASMTL_uc011mhf.1_Missense_Mutation_p.E486K	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	544	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		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)				TTGCAGCTCTCGGCGACCCTG	0.493													T	1531640	C	T	1531640	3	4	248	1	0	0	0	0	1	0	0	0	1046	893	31	1	243	1	ASMTL	23	1531640	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1236532	1531640	153738920	1758	123765											
XG	7499	broad.mit.edu	37	chrX	2712609	2712609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaccgtgatgacggacGctacccgcccaggcccaggc	14	15	0	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:2712609G>A	uc011mhg.1	+	6	510	c.287G>A	c.(286-288)CGC>CAC	p.R96H	XG_uc004cqp.2_Missense_Mutation_p.R96H	NM_175569	NP_780778	P55808	XG_HUMAN	XG glycoprotein isoform 1 precursor	96	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)				GATGACGGACGCTACCCGCCC	0.617													A	2712609	G	A	2712609	3	1	248	1	0	0	0	0	1	0	0	0	17424	1087	38	1	312	1	XG	23	2712609	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1180969	2712609	152557951	1759	123766											
PRKX	5613	broad.mit.edu	37	chrX	3592695	3592695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagacttctcattgtgtacGtgttgctcctgctttaggcg	10	10	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:3592695G>A	uc010nde.2	-	2	646	c.279C>T	c.(277-279)CAC>CAT	p.H93H		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	93	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CATTGTGTACGTGTTGCTCCT	0.572													A	3592695	G	A	3592695	2	1	248	1	0	0	0	0	0	0	0	1	12527	1136	40	1		1	PRKX	23	3592695	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	880086	3592695	151677865	1760	123767											
TBL1X	6907	broad.mit.edu	37	chrX	9656197	9656197	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcggcggcggcggcggcTgcggccacggcagcagcgac	20	14	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:9656197T>G	uc010ndq.2	+	7	866	c.498T>G	c.(496-498)GCT>GCG	p.A166A	TBL1X_uc004csq.3_Silent_p.A115A|TBL1X_uc010ndr.2_Silent_p.A115A|TBL1X_uc004csr.2_Silent_p.A166A|TBL1X_uc004css.2_Silent_p.A117A	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	166	Poly-Ala.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				cggcggcggctgcggccacgg	0.468													G	9656197	T	G	9656197	2	3	248	1	0	0	0	0	0	0	0	1	15636	1567	55	5		5	TBL1X	23	9656197	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	6063502	9656197	145614363	1761	123768											
ARHGAP6	395	broad.mit.edu	37	chrX	11157458	11157458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggggcgtgctgcaggcgCgcgacaccgcagggtgggcc	20	13	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:11157458C>T	uc004cup.1	-	13	3323	c.2450G>A	c.(2449-2451)CGC>CAC	p.R817H	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.R614H|ARHGAP6_uc004cun.1_Missense_Mutation_p.R637H	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	817					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			urinary_tract(1)|lung(1)	2						GCTGCAGGCGCGCGACACCGC	0.746													T	11157458	C	T	11157458	3	4	248	1	0	0	0	0	1	0	0	0	887	768	27	1	478	1	ARHGAP6	23	11157458	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1501261	11157458	144113102	1762	123769											
ARHGAP6	395	broad.mit.edu	37	chrX	11206974	11206974	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcttttatttccaaaTgggaggagggaagccacaaa	10	6	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:11206974T>C	uc004cup.1	-	4	1824	c.951A>G	c.(949-951)CCA>CCG	p.P317P	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.P317P|ARHGAP6_uc004cum.1_Silent_p.P114P|ARHGAP6_uc004cun.1_Silent_p.P137P|ARHGAP6_uc010neb.1_Silent_p.P139P|ARHGAP6_uc011mif.1_Silent_p.P114P	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	317					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			urinary_tract(1)|lung(1)	2						TATTTCCAAATGGGAGGAGGG	0.473													C	11206974	T	C	11206974	2	2	248	1	0	0	0	0	0	0	0	1	887	1451	51	3		3	ARHGAP6	23	11206974	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	49516	11206974	144063586	1763	123770											
ARHGAP6	395	broad.mit.edu	37	chrX	11272825	11272825	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgttccaggtgaaatcAccctgtaggccaaaaaaaaa	8	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:11272825A>C	uc004cup.1	-	2	1464	c.591T>G	c.(589-591)GGT>GGG	p.G197G	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.G197G|ARHGAP6_uc004cum.1_5'UTR|ARHGAP6_uc004cun.1_Silent_p.G17G|ARHGAP6_uc010neb.1_Silent_p.G19G|ARHGAP6_uc011mif.1_5'UTR	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	197					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			urinary_tract(1)|lung(1)	2						AGGTGAAATCACCCTGTAGGC	0.463													C	11272825	A	C	11272825	2	2	248	1	0	0	0	0	0	0	0	1	887	146	6	5		5	ARHGAP6	23	11272825	Silent	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	65851	11272825	143997735	1764	123771											
BMX	660	broad.mit.edu	37	chrX	15526524	15526524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctcaaaagatcacaGcaaaagaagaaaatgtcacc	5	10	4	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:15526524G>A	uc004cww.2	+	2	236	c.48G>A	c.(46-48)CAG>CAA	p.Q16Q	BMX_uc004cwx.3_Silent_p.Q16Q|BMX_uc004cwy.3_Silent_p.Q16Q	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	16	PH.				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			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					AAAGATCACAGCAAAAGAAGA	0.299													A	15526524	G	A	15526524	2	1	248	1	0	0	0	0	0	0	0	1	1473	962	34	2		2	BMX	23	15526524	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	4253699	15526524	139744036	1765	123772											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998685	27998685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatggccacacatggccAgagtggaatcaccacagtta	9	12	2	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:27998685A>G	uc004dbx.1	-	1	882	c.767T>C	c.(766-768)CTG>CCG	p.L256P		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	256	WD 2.									ovary(3)|skin(1)	4						ACACATGGCCAGAGTGGAATC	0.498													G	27998685	A	G	27998685	3	3	248	1	0	0	0	0	1	0	0	0	4277	188	7	3	1039	3	DCAF8L1	23	27998685	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	12472161	27998685	127271875	1766	123773											
MED14	9282	broad.mit.edu	37	chrX	40562801	40562801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgggaacaacaagagctgGgagtgcagtctctatggaag	15	6	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:40562801G>T	uc004dex.3	-	11	1446	c.1306C>A	c.(1306-1308)CCA>ACA	p.P436T		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	436	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			breast(2)|kidney(1)|skin(1)	4						ACAAGAGCTGGGAGTGCAGTC	0.343													T	40562801	G	T	40562801	3	4	248	1	0	0	0	0	1	0	0	0	9432	1232	43	5	3142	5	MED14	23	40562801	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	12564116	40562801	114707759	1767	123774											
DDX3X	1654	broad.mit.edu	37	chrX	41203552	41203552	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgccgatattggtcagCagattcgagacttggaacgt	14	7	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:41203552C>T	uc004dfe.2	+	10	1780	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	DDX3X_uc010nhf.1_Nonsense_Mutation_p.Q293*|DDX3X_uc004dff.2_Nonsense_Mutation_p.Q309*|DDX3X_uc011mkq.1_Nonsense_Mutation_p.Q293*|DDX3X_uc011mkr.1_Nonsense_Mutation_p.Q309*|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	309	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TATTGGTCAGCAGATTCGAGA	0.408										HNSCC(61;0.18)			T	41203552	C	T	41203552	4	4	248	1	0	0	0	0	0	1	0	0	4358	711	25	2	963	2	DDX3X	23	41203552	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	640751	41203552	114067008	1768	123775											
PHF16	9767	broad.mit.edu	37	chrX	46913962	46913962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaaaatgggctggtgCagccaaaagaggaaagcatt	13	5	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:46913962C>T	uc004dgx.2	+	9	1426	c.1375C>T	c.(1375-1377)CAG>TAG	p.Q459*	PHF16_uc004dgy.2_Nonsense_Mutation_p.Q459*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	459					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						TGGGCTGGTGCAGCCAAAAGA	0.438													T	46913962	C	T	46913962	4	4	248	1	0	0	0	0	0	1	0	0	11827	711	25	2	1405	2	PHF16	23	46913962	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	5710410	46913962	108356598	1769	123776											
ERAS	3266	broad.mit.edu	37	chrX	48687743	48687743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcttcgtggaggaccaCgaccccaccatccaggattc	10	15	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:48687743C>T	uc004dky.1	+	1	461	c.210C>T	c.(208-210)CAC>CAT	p.H70H		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	70	Effector region (By similarity).				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			lung(4)|urinary_tract(1)	5						TGGAGGACCACGACCCCACCA	0.612													T	48687743	C	T	48687743	2	4	248	1	0	0	0	0	0	0	0	1	5205	535	19	1		1	ERAS	23	48687743	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1773781	48687743	106582817	1770	123777											
SSX7	280658	broad.mit.edu	37	chrX	52681369	52681369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggcccctgtattatgCatgaaaggtgggagggtggc	16	7	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:52681369C>T	uc004dqx.1	-	4	372	c.213G>A	c.(211-213)ATG>ATA	p.M71I		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	71	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					CTGTATTATGCATGAAAGGTG	0.428													T	52681369	C	T	52681369	3	4	248	1	0	0	0	0	1	0	0	0	15208	710	25	2	369	2	SSX7	23	52681369	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3993626	52681369	102589191	1771	123778											
SMC1A	8243	broad.mit.edu	37	chrX	53432885	53432885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcataggtcaatgaggcggcCgtactgagtaaagtaggaag	15	6	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:53432885C>T	uc004dsg.2	-	10	1618	c.1549G>A	c.(1549-1551)GGC>AGC	p.G517S	SMC1A_uc011moe.1_Missense_Mutation_p.G495S|SMC1A_uc011mof.1_Missense_Mutation_p.G283S	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	517	Flexible hinge.				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			ovary(5)|central_nervous_system(1)	6						ATGAGGCGGCCGTACTGAGTA	0.463													T	53432885	C	T	53432885	3	4	248	1	0	0	0	0	1	0	0	0	14781	652	23	1	2216	1	SMC1A	23	53432885	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	751516	53432885	101837675	1772	123779											
PHF8	23133	broad.mit.edu	37	chrX	54048751	54048751	+	Frame_Shift_Del	DEL	T	T	-													gggctcccggtcttcactggTttccccttgtgtgtatcatg							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:54048751delT	uc004dsu.2	-	4	415	c.342delA	c.(340-342)AAAfs	p.K114fs	PHF8_uc004dst.2_Frame_Shift_Del_p.K78fs|PHF8_uc004dsw.2_Frame_Shift_Del_p.K78fs|PHF8_uc004dsy.2_Frame_Shift_Del_p.K78fs	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	114	Linker.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						TCTTCACTGGTTTCCCCTTGT	0.522													-	54048751	T	-	54048751	7	5	248	1	0	1	0	1	0	0	0	0	11840	1722	60	0	3086	0	PHF8	23	54048751	Frame_Shift_Del	DEL	T	TCGA-FP-A4BE-01A-12D-A24D-08	615866	54048751	101221809	1773	123780											
MAGED2	10916	broad.mit.edu	37	chrX	54837468	54837468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagatcacctaaagcccGtaggggcaaggctcgccgta	12	13	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:54837468G>A	uc004dtk.1	+	4	846	c.752G>A	c.(751-753)CGT>CAT	p.R251H	MAGED2_uc004dtl.1_Missense_Mutation_p.R251H|MAGED2_uc004dtm.1_Intron|MAGED2_uc010nkc.1_Missense_Mutation_p.R251H|MAGED2_uc004dtn.1_Missense_Mutation_p.R251H|MAGED2_uc004dto.1_Missense_Mutation_p.R225H	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	251	Arg-rich.									ovary(2)|breast(1)	3						CCTAAAGCCCGTAGGGGCAAG	0.612													A	54837468	G	A	54837468	3	1	248	1	0	0	0	0	1	0	0	0	9184	1145	40	1	762	1	MAGED2	23	54837468	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	788717	54837468	100433092	1774	123781											
PFKFB1	5207	broad.mit.edu	37	chrX	54989723	54989723	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatccagttgagatatcGtgtgagctttgtggagatat	11	6	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:54989723G>A	uc004dty.1	-	2	261	c.190C>T	c.(190-192)CGA>TGA	p.R64*	PFKFB1_uc010nkd.1_Nonsense_Mutation_p.R72*|PFKFB1_uc011mol.1_Intron	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	64	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TTGAGATATCGTGTGAGCTTT	0.438													A	54989723	G	A	54989723	4	1	248	1	0	0	0	0	0	1	0	0	11760	1153	40	1	1277	1	PFKFB1	23	54989723	Nonsense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	152255	54989723	100280837	1775	123782											
NLGN3	54413	broad.mit.edu	37	chrX	70387060	70387060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagccagcccgctaccaCgtggcctttggccctgtgat	10	16	0	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:70387060C>T	uc004dzd.1	+	6	1313	c.1113C>T	c.(1111-1113)CAC>CAT	p.H371H	NLGN3_uc010nlb.1_Silent_p.H331H|NLGN3_uc004dzb.2_Silent_p.H351H|NLGN3_uc004dzc.2_Silent_p.H234H|NLGN3_uc011mps.1_Silent_p.H331H|NLGN3_uc004dze.2_Silent_p.H169H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	371	Extracellular (Potential).				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			ovary(1)	1	Renal(35;0.156)					CCCGCTACCACGTGGCCTTTG	0.547													T	70387060	C	T	70387060	2	4	248	1	0	0	0	0	0	0	0	1	10463	535	19	1		1	NLGN3	23	70387060	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	15397337	70387060	84883500	1776	123783											
TAF1	6872	broad.mit.edu	37	chrX	70643838	70643838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactagtcttggccatttcaTcacccagttaataagaaatt	5	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:70643838T>C	uc004dzu.3	+	31	4638	c.4587T>C	c.(4585-4587)CAT>CAC	p.H1529H	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.H1550H|TAF1_uc004dzv.3_Silent_p.H703H|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1529	Interaction with ASF1A and ASF1B.|Bromo 2.|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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GGCCATTTCATCACCCAGTTA	0.333													C	70643838	T	C	70643838	2	2	248	1	0	0	0	0	0	0	0	1	15510	1432	50	3		3	TAF1	23	70643838	Silent	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	256778	70643838	84626722	1777	123784											
BTK	695	broad.mit.edu	37	chrX	100625041	100625041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagttggggagaagacGtagagaggcccttcatcata	12	8	4	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:100625041G>A	uc004ehg.2	-	5	529	c.336C>T	c.(334-336)TAC>TAT	p.Y112Y	BTK_uc010nnn.2_Silent_p.Y112Y|BTK_uc010nno.2_Silent_p.Y146Y|BTK_uc004ehi.2_Silent_p.Y112Y	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	112	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			lung(3)|central_nervous_system(2)|ovary(1)	6						GGGAGAAGACGTAGAGAGGCC	0.398									Agammaglobulinemia_X-linked				A	100625041	G	A	100625041	2	1	248	1	0	0	0	0	0	0	0	1	1557	1140	40	1		1	BTK	23	100625041	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	29981203	100625041	54645519	1778	123785											
ARMCX1	51309	broad.mit.edu	37	chrX	100808255	100808255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggcccttttcaacacGctgaaggaacaggcaagtgc	11	12	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:100808255G>A	uc004ehv.2	+	4	713	c.342G>A	c.(340-342)ACG>ACA	p.T114T	ARMCX1_uc004ehw.2_Silent_p.T114T	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	114						integral to membrane	binding			ovary(3)|pancreas(1)	4						TTTTCAACACGCTGAAGGAAC	0.582													A	100808255	G	A	100808255	2	1	248	1	0	0	0	0	0	0	0	1	959	1074	38	1		1	ARMCX1	23	100808255	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	183214	100808255	54462305	1779	123786											
RAB40AL	282808	broad.mit.edu	37	chrX	102192886	102192886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggtggacaagctcccgCtccccattgccttaagaagc	9	14	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:102192886C>T	uc004ejs.2	+	1	687	c.640C>T	c.(640-642)CTC>TTC	p.L214F		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	214	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2						CAAGCTCCCGCTCCCCATTGC	0.597													T	102192886	C	T	102192886	3	4	248	1	0	0	0	0	1	0	0	0	12940	797	28	2	642	2	RAB40AL	23	102192886	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	1384631	102192886	53077674	1780	123787											
NXF3	56000	broad.mit.edu	37	chrX	102337211	102337211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggtatccgagaaggTcgtgcacactgggcttctgt	15	9	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:102337211T>C	uc004eju.2	-	9	933	c.862A>G	c.(862-864)ACC>GCC	p.T288A	NXF3_uc010noi.1_Missense_Mutation_p.T138A|NXF3_uc011mrw.1_Missense_Mutation_p.T288A|NXF3_uc011mrx.1_Missense_Mutation_p.T199A	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	288						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCCGAGAAGGTCGTGCACACT	0.537													C	102337211	T	C	102337211	3	2	248	1	0	0	0	0	1	0	0	0	10785	1667	58	3	777	3	NXF3	23	102337211	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	144325	102337211	52933349	1781	123788											
RAB9B	51209	broad.mit.edu	37	chrX	103080412	103080412	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtaaataaattctttctgCcagttaccaagattctcgaa	5	8	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:103080412C>T	uc004ell.1	-	3	588	c.303G>A	c.(301-303)TGG>TGA	p.W101*	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	101					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						ATTCTTTCTGCCAGTTACCAA	0.478													T	103080412	C	T	103080412	4	4	248	1	0	0	0	0	0	1	0	0	12959	740	26	2	306	2	RAB9B	23	103080412	Nonsense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	743201	103080412	52190148	1782	123789											
TEX13B	56156	broad.mit.edu	37	chrX	107224599	107224599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgaagcctcctcccAgcccctgcaagacctctgcg	9	19	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:107224599A>G	uc004enn.1	-	3	743	c.650T>C	c.(649-651)CTG>CCG	p.L217P		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	217										ovary(1)	1						GCCTCCTCCCAGCCCCTGCAA	0.597													G	107224599	A	G	107224599	3	3	248	1	0	0	0	0	1	0	0	0	15774	188	7	3	292	3	TEX13B	23	107224599	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	4144187	107224599	48045961	1783	123790											
CAPN6	827	broad.mit.edu	37	chrX	110492163	110492163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaatgcccatttttacCttgaagagctcaaagccaat	5	13	1	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:110492163C>A	uc004epc.1	-	9	1449	c.1281G>T	c.(1279-1281)AAG>AAT	p.K427N	CAPN6_uc011msu.1_Missense_Mutation_p.K172N	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	427	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						CCATTTTTACCTTGAAGAGCT	0.438													A	110492163	C	A	110492163	3	1	248	1	0	0	0	0	1	0	0	0	2630	695	24	5	664	5	CAPN6	23	110492163	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	3267564	110492163	44778397	1784	123791											
LONRF3	79836	broad.mit.edu	37	chrX	118145831	118145831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggcctatcccaccgttcCttgtcccctgcacatctttg	6	16	1	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:118145831C>A	uc004eqw.2	+	8	1737	c.1706C>A	c.(1705-1707)CCT>CAT	p.P569H	LONRF3_uc004eqx.2_Missense_Mutation_p.P528H|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.P313H	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	569	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						CCCACCGTTCCTTGTCCCCTG	0.473													A	118145831	C	A	118145831	3	1	248	1	0	0	0	0	1	0	0	0	8896	681	24	5	1736	5	LONRF3	23	118145831	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	7653668	118145831	37124729	1785	123792											
SLC25A5	292	broad.mit.edu	37	chrX	118604437	118604437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctatccatttgacactGttcgccgccgcatgatgatg	8	13	0	3			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:118604437G>A	uc004erh.3	+	3	816	c.700G>A	c.(700-702)GTT>ATT	p.V234I	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	234	Helical; Name=5; (By similarity).|Solcar 3.				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	ATTTGACACTGTTCGCCGCCG	0.507													A	118604437	G	A	118604437	3	1	248	1	0	0	0	0	1	0	0	0	14512	1377	48	4	710	4	SLC25A5	23	118604437	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	458606	118604437	36666123	1786	123793											
SEPT6	23157	broad.mit.edu	37	chrX	118767441	118767441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgttccttttggcctcaTatgtctcctgtaaactgcga	7	12	2	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:118767441T>C	uc004erv.2	-	8	1236	c.971A>G	c.(970-972)TAT>TGT	p.Y324C	SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Missense_Mutation_p.Y324C|SEPT6_uc004ert.2_Missense_Mutation_p.Y324C|SEPT6_uc004eru.2_Missense_Mutation_p.Y324C|SEPT6_uc004erw.2_Missense_Mutation_p.Y266C|SEPT6_uc011mtv.1_Missense_Mutation_p.Y266C|SEPT6_uc011mtw.1_Missense_Mutation_p.Y354C	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	324	Potential.				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TTTGGCCTCATATGTCTCCTG	0.453													C	118767441	T	C	118767441	3	2	248	1	0	0	0	0	1	0	0	0	14068	1406	49	3	367	3	SEPT6	23	118767441	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	163004	118767441	36503119	1787	123794											
BCORL1	63035	broad.mit.edu	37	chrX	129147951	129147951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccatgcctgctgccacGccagctgccattcccacctc	6	21	0	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:129147951G>A	uc004evb.1	+	4	1317	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	BCORL1_uc010nrd.1_Silent_p.T303T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	401	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ctgctgccacgccagctgcca	0.154													A	129147951	G	A	129147951	2	1	248	1	0	0	0	0	0	0	0	1	1387	1074	38	1		1	BCORL1	23	129147951	Silent	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	10380510	129147951	26122609	1788	123795											
IGSF1	3547	broad.mit.edu	37	chrX	130419879	130419879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtcttgtgggaagggcGgatccaggtcatctgtgtct	16	7	4	0			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:130419879G>A	uc004ewd.2	-	4	479	c.241C>T	c.(241-243)CGC>TGC	p.R81C	IGSF1_uc004ewe.3_Missense_Mutation_p.R70C|IGSF1_uc004ewf.2_Missense_Mutation_p.R61C|IGSF1_uc004ewg.2_Missense_Mutation_p.R81C	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	81	Ig-like C2-type 1.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGGGAAGGGCGGATCCAGGTC	0.537													A	130419879	G	A	130419879	3	1	248	1	0	0	0	0	1	0	0	0	7596	1116	39	1	3914	1	IGSF1	23	130419879	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	1271928	130419879	24850681	1789	123796											
GPC4	2239	broad.mit.edu	37	chrX	132548849	132548849	+	Frame_Shift_Del	DEL	G	G	-													cctaccgttgatctcgtggaGgggggcatcgttcttgttga							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:132548849delG	uc004exc.1	-	1	357	c.145delC	c.(145-147)CTCfs	p.L49fs	GPC4_uc011mvg.1_5'Flank	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	49					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					ATCTCGTGGAGGGGGGCATCG	0.647													-	132548849	G	-	132548849	7	5	248	1	0	1	0	1	0	0	0	0	6600	1000	35	0	1561	0	GPC4	23	132548849	Frame_Shift_Del	DEL	G	TCGA-FP-A4BE-01A-12D-A24D-08	2128970	132548849	22721711	1790	123797											
AFF2	2334	broad.mit.edu	37	chrX	148037457	148037457	+	Frame_Shift_Del	DEL	A	A	-													tgtctcaaaggacaattgggAaaaaacagcccaaaaaagtt							TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:148037456_148037456GA>G	uc004fcp.3	+	10	2360	c.1881_1881GA>G	c.(1879-1881)gggfs	p.G627fs	AFF2_uc004fcq.3_Frame_Shift_Del_p.G617fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.G588fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.G592fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.G594fs|AFF2_uc011mxc.2_Frame_Shift_Del_p.G268fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	627					RNA splicing|brain development|mRNA processing|regulation of 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)					GGACAATTGGGAAAAAACAGC	0.438													-	148037457	A	-	148037457	7	5	248	1	0	1	0	1	0	0	0	0	357	247	9	0	1979	0	AFF2	23	148037457	Frame_Shift_Del	DEL	A	TCGA-FP-A4BE-01A-12D-A24D-08	15488608	148037457	7233103	1791	123798											
IDS	3423	broad.mit.edu	37	chrX	148579643	148579643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccagctcttcaccttggGgtatctgaaggggatgtgtg	13	9	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:148579643G>T	uc011mxe.1	-	5	901	c.703C>A	c.(703-705)CCC>ACC	p.P235T	IDS_uc011mxf.1_Missense_Mutation_p.P145T|IDS_uc011mxg.1_Missense_Mutation_p.P24T|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.P24T|IDS_uc011mxh.1_Missense_Mutation_p.P235T|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	235						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTCACCTTGGGGTATCTGAAG	0.517													T	148579643	G	T	148579643	3	4	248	1	0	0	0	0	1	0	0	0	7503	1232	43	5	999	5	IDS	23	148579643	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	542186	148579643	6690917	1792	123799											
MAMLD1	10046	broad.mit.edu	37	chrX	149638531	149638531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcggttcagatgtcacActtggagagcctggcttcca	11	12	2	2			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:149638531A>G	uc004fee.1	+	3	762	c.686A>G	c.(685-687)CAC>CGC	p.H229R	MAMLD1_uc011mxt.1_Missense_Mutation_p.H191R|MAMLD1_uc011mxu.1_Missense_Mutation_p.H204R|MAMLD1_uc011mxv.1_Missense_Mutation_p.H204R|MAMLD1_uc011mxw.1_Missense_Mutation_p.H156R	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	229					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGTCACACTTGGAGAGC	0.517													G	149638531	A	G	149638531	3	3	248	1	0	0	0	0	1	0	0	0	9208	159	6	3	696	3	MAMLD1	23	149638531	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	1058888	149638531	5632029	1793	123800											
PNMA5	114824	broad.mit.edu	37	chrX	152159299	152159299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaatcatgtctgtgctgcGcactgacaaggggctcttgt	12	10	3	1	rs145041482	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:152159299G>A	uc010ntw.2	-	3	1183	c.844C>T	c.(844-846)CGC>TGC	p.R282C	PNMA5_uc004fha.3_Missense_Mutation_p.R282C|PNMA5_uc010ntx.2_Missense_Mutation_p.R282C|PNMA5_uc004fgy.3_Missense_Mutation_p.R282C	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	282					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTGCTGCGCACTGACAAG	0.582													A	152159299	G	A	152159299	3	1	248	1	0	0	0	0	1	0	0	0	12156	1087	38	1	506	1	PNMA5	23	152159299	Missense_Mutation	SNP	G	TCGA-FP-A4BE-01A-12D-A24D-08	2520768	152159299	3111261	1794	123801											
TMEM187	8269	broad.mit.edu	37	chrX	153247941	153247941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggccctggctgttccTctctcttgagtgcgtctccc	11	16	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153247941T>C	uc004fjq.2	+	2	962	c.428T>C	c.(427-429)CTC>CCC	p.L143P	hsa-mir-3202-2|MI0014253_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	transmembrane protein 187	143	Helical; (Potential).					integral to membrane|transport vesicle					0	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTGTTCCTCTCTCTTGAG	0.672													C	153247941	T	C	153247941	3	2	248	1	0	0	0	0	1	0	0	0	16106	1551	54	3	430	3	TMEM187	23	153247941	Missense_Mutation	SNP	T	TCGA-FP-A4BE-01A-12D-A24D-08	1088642	153247941	2022619	1795	123802											
TKTL1	8277	broad.mit.edu	37	chrX	153539340	153539340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcattgcccgccgagcaCtgcataaacatctatcagag	10	12	2	1	rs74546727	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153539340C>T	uc004fkg.2	+	4	690	c.504C>T	c.(502-504)CAC>CAT	p.H168H	TKTL1_uc011mzl.1_Silent_p.H162H|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.H112H	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	168					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	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)					CCGCCGAGCACTGCATAAACA	0.512													T	153539340	C	T	153539340	2	4	248	1	0	0	0	0	0	0	0	1	15932	564	20	4		4	TKTL1	23	153539340	Silent	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	291399	153539340	1731220	1796	123803											
DNASE1L1	1774	broad.mit.edu	37	chrX	153633399	153633399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccacctcctgcagcAccatgatgtcacagcgagcc	8	17	1	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153633399A>G	uc004fks.1	-	3	352	c.161T>C	c.(160-162)GTG>GCG	p.V54A	DNASE1L1_uc004fkt.1_Missense_Mutation_p.V54A|DNASE1L1_uc004fku.1_Missense_Mutation_p.V54A|DNASE1L1_uc004fkv.1_Missense_Mutation_p.V54A|DNASE1L1_uc004fkw.1_Missense_Mutation_p.V54A	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	54					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	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)					CTCCTGCAGCACCATGATGTC	0.607													G	153633399	A	G	153633399	3	3	248	1	0	0	0	0	1	0	0	0	4661	159	6	3	771	3	DNASE1L1	23	153633399	Missense_Mutation	SNP	A	TCGA-FP-A4BE-01A-12D-A24D-08	94059	153633399	1637161	1797	123804											
PLXNA3	55558	broad.mit.edu	37	chrX	153693430	153693430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcagcctcttaccttgCgggctaagaacctacctcag	8	14	3	1			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153693430C>T	uc004flm.2	+	11	2286	c.2113C>T	c.(2113-2115)CGG>TGG	p.R705W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	705	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					TCTTACCTTGCGGGCTAAGAA	0.647													T	153693430	C	T	153693430	3	4	248	1	0	0	0	0	1	0	0	0	12121	759	27	1	2151	1	PLXNA3	23	153693430	Missense_Mutation	SNP	C	TCGA-FP-A4BE-01A-12D-A24D-08	60031	153693430	1577130	1798	123805											
MACF1	23499	broad.mit.edu	37	chr1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G													gatgaggaagatagtggcagINSggaaatttttctgtcatgca							TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			AGATAGTGGCAGGGAAATTTTT	0.391													G	39799061	-	G	39799060	7	5	249	1	0	1	1	0	0	0	0	0	9144	1000	35	0	6891	0	MACF1	1	39799060	Frame_Shift_Ins	INS	-	TCGA-FP-A4BF-01A-12D-A24D-08		39799060	209451561	1	123806											
POMGNT1	55624	broad.mit.edu	37	chr1	46657809	46657809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggccgacgatgccaaaGtggtaggatcgggaaacgtc	15	8	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:46657809G>T	uc001cpe.2	-	17	1664	c.1500C>A	c.(1498-1500)CAC>CAA	p.H500Q	POMGNT1_uc010olx.1_Missense_Mutation_p.H478Q|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.H357Q|POMGNT1_uc001cpg.2_Missense_Mutation_p.H500Q|POMGNT1_uc001cpf.2_Missense_Mutation_p.H167Q|POMGNT1_uc001cph.1_Missense_Mutation_p.H78Q|POMGNT1_uc001cpi.1_Missense_Mutation_p.H167Q	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	500	Lumenal (Potential).				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			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGATGCCAAAGTGGTAGGATC	0.483													T	46657809	G	T	46657809	3	4	249	1	0	0	0	0	1	0	0	0	12243	1020	36	5	506	5	POMGNT1	1	46657809	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	6858749	46657809	202592812	2	123807											
C1orf56	54964	broad.mit.edu	37	chr1	151021328	151021331	+	Splice_Site	DEL	AGTA	AGTA	-													gtgttcacagagatgcaaccAgtaagtgtttggtgatgagc							TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:151021328_151021331delAGTA	uc001ewn.2	+	1	1070	c.1005_splice	c.e1+1	p.P335_splice		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor							extracellular region					0	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)			AGATGCAACCAGTAAGTGTTTGGT	0.505											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	151021331	AGTA	-	151021328	8	5	249	1	0	1	0	1	0	0	1	0	2048	202	7	0	1007	0	C1orf56	1	151021328	Splice_Site	DEL	AGTA	TCGA-FP-A4BF-01A-12D-A24D-08	104363519	151021328	98229293	3	123808											
OR6K3	391114	broad.mit.edu	37	chr1	158687897	158687897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgttgattggtttccGctctccatatttctagtaga	8	9	3	2	rs141092289	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:158687897G>A	uc010pip.1	-	1	57	c.57C>T	c.(55-57)AGC>AGT	p.S19S		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					ATTGGTTTCCGCTCTCCATAT	0.393													A	158687897	G	A	158687897	2	1	249	1	0	0	0	0	0	0	0	1	11203	1078	38	1		1	OR6K3	1	158687897	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	7666569	158687897	90562724	4	123809											
IFI16	3428	broad.mit.edu	37	chr1	158986419	158986419	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcaggagccggcatgTccacagccatgggccgttcc	12	16	0	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:158986419T>A	uc001ftf.1	+	5	1085	c.478T>A	c.(478-480)TCC>ACC	p.S160T	IFI16_uc001ftg.2_Missense_Mutation_p.S160T|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	160					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			ovary(1)	1	all_hematologic(112;0.0429)					AGCCGGCATGTCCACAGCCAT	0.517													A	158986419	T	A	158986419	3	1	249	1	0	0	0	0	1	0	0	0	7511	1667	58	5	488	5	IFI16	1	158986419	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	298522	158986419	90264202	5	123810											
DHX9	1660	broad.mit.edu	37	chr1	182847239	182847239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacaaaccttgagcaacGgaaagggcgagctggccgag	13	9	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:182847239G>A	uc001gpr.2	+	20	2445	c.2282G>A	c.(2281-2283)CGG>CAG	p.R761Q	DHX9_uc001gps.2_Missense_Mutation_p.R547Q|DHX9_uc001gpt.2_Missense_Mutation_p.R40Q	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	761	Helicase C-terminal.				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			ovary(2)	2						CTTGAGCAACGGAAAGGGCGA	0.478													A	182847239	G	A	182847239	3	1	249	1	0	0	0	0	1	0	0	0	4516	1116	39	1	2356	1	DHX9	1	182847239	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	23860820	182847239	66403382	6	123811											
ADORA1	134	broad.mit.edu	37	chr1	203134713	203134713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctcctccggcgacccGcagaagtactatgggaagga	13	13	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:203134713G>A	uc001gze.1	+	4	1099	c.666G>A	c.(664-666)CCG>CCA	p.P222P	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Silent_p.P222P|ADORA1_uc010pqg.1_Silent_p.P154P|ADORA1_uc009xak.1_Missense_Mutation_p.A148T|ADORA1_uc010pqh.1_Silent_p.P255P	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	222	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCGGCGACCCGCAGAAGTACT	0.577													A	203134713	G	A	203134713	2	1	249	1	0	0	0	0	0	0	0	1	326	1074	38	1		1	ADORA1	1	203134713	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	20287474	203134713	46115908	7	123812											
CENPF	1063	broad.mit.edu	37	chr1	214792522	214792522	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataataaagaggttgaagaaCgaaaaagattagaggcagag	12	2	0	6			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:214792522C>T	uc001hkm.2	+	5	706	c.532C>T	c.(532-534)CGA>TGA	p.R178*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	178	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGTTGAAGAACGAAAAAGATT	0.318													T	214792522	C	T	214792522	4	4	249	1	0	0	0	0	0	1	0	0	3231	528	19	1	546	1	CENPF	1	214792522	Nonsense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	11657809	214792522	34458099	8	123813											
ENAH	55740	broad.mit.edu	37	chr1	225707053	225707053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccaggcgttcctgccgctCcaggcgttcctgccgctcca	10	18	0	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:225707053C>T	uc001hpc.1	-	5	1102	c.649G>A	c.(649-651)GAG>AAG	p.E217K	ENAH_uc001hpd.1_Missense_Mutation_p.E217K	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	217	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		tcctgccgctccaggcgttcc	0.264													T	225707053	C	T	225707053	3	4	249	1	0	0	0	0	1	0	0	0	5111	864	30	4	1170	4	ENAH	1	225707053	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	10914531	225707053	23543568	9	123814											
RYR2	6262	broad.mit.edu	37	chr1	237797008	237797008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacagcagtgttggtcTtggtaagtaaatgactttta	11	4	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:237797008T>C	uc001hyl.1	+	43	6806	c.6686T>C	c.(6685-6687)CTT>CCT	p.L2229P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2229	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AGTGTTGGTCTTGGTAAGTAA	0.244													C	237797008	T	C	237797008	3	2	249	1	0	0	0	0	1	0	0	0	13769	1609	56	3	6856	3	RYR2	1	237797008	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	12089955	237797008	11453613	10	123815											
BIRC6	57448	broad.mit.edu	37	chr2	32703759	32703759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attcatctgtgtgagattgtGaacgaaccccagctggaaag	11	8	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:32703759G>A	uc010ezu.2	+	36	7259	c.7125G>A	c.(7123-7125)GTG>GTA	p.V2375V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2375					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTGAGATTGTGAACGAACCCC	0.403													A	32703759	G	A	32703759	2	1	249	1	0	0	0	0	0	0	0	1	1438	1277	45	4		4	BIRC6	2	32703759	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08		32703759	210495614	11	123816											
DHX57	90957	broad.mit.edu	37	chr2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttataatgacctggaagggCgccttgattcactgaagata	11	7	1	4			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:39095333C>T	uc002rrf.2	-	2	314	c.215G>A	c.(214-216)CGC>CAC	p.R72H	DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R72H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.338													T	39095333	C	T	39095333	3	4	249	1	0	0	0	0	1	0	0	0	4513	768	27	1	4037	1	DHX57	2	39095333	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	6391574	39095333	204104040	12	123817											
SLC8A1	6546	broad.mit.edu	37	chr2	40366764	40366764	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagtgcatcacgtaatcGaaacaggagggcagcttctc	11	9	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:40366764G>A	uc002rrx.2	-	9	2346	c.2322C>T	c.(2320-2322)TTC>TTT	p.F774F	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.F769F|SLC8A1_uc002rrz.2_Silent_p.F761F|SLC8A1_uc002rsa.2_Silent_p.F738F|SLC8A1_uc002rsd.3_Silent_p.F738F	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	774	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACGTAATCGAAACAGGAGG	0.502													A	40366764	G	A	40366764	2	1	249	1	0	0	0	0	0	0	0	1	14706	1049	37	1		1	SLC8A1	2	40366764	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	1271431	40366764	202832609	13	123818											
LRPPRC	10128	broad.mit.edu	37	chr2	44175646	44175646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaagttataaagaaaatAgccaacagcttctgtggaaa	7	6	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:44175646A>G	uc002rtr.2	-	17	1805	c.1747T>C	c.(1747-1749)TAT>CAT	p.Y583H	LRPPRC_uc010yob.1_Missense_Mutation_p.Y483H	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	583				Y -> N (in Ref. 5; AAA67549).	mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAAGAAAATAGCCAACAGCT	0.378													G	44175646	A	G	44175646	3	3	249	1	0	0	0	0	1	0	0	0	8965	420	15	3	2525	3	LRPPRC	2	44175646	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	3808882	44175646	199023727	14	123819											
RPS27A	6233	broad.mit.edu	37	chr2	55462594	55462594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggcaaaattagtcgccttCgtcgagagtgcccttctgat	10	10	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:55462594C>T	uc010yow.1	+	6	549	c.352C>T	c.(352-354)CGT>TGT	p.R118C	C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.R118C|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	NM_001135592	NP_001129064	P62979	RS27A_HUMAN	ubiquitin and ribosomal protein S27a precursor	118					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	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			ovary(1)	1						TAGTCGCCTTCGTCGAGAGTG	0.398													T	55462594	C	T	55462594	3	4	249	1	0	0	0	0	1	0	0	0	13639	884	31	1	370	1	RPS27A	2	55462594	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	11286948	55462594	187736779	15	123820											
CNNM4	26504	broad.mit.edu	37	chr2	97463383	97463383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcgcttcctagccacAggtagcatgaggaggacctt	11	12	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:97463383A>G	uc002swx.2	+	3	1778	c.1680A>G	c.(1678-1680)ACA>ACG	p.T560T	CNNM4_uc010yuy.1_Silent_p.T47T|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	560					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						TCCTAGCCACAGGTAGCATGA	0.577													G	97463383	A	G	97463383	2	3	249	1	0	0	0	0	0	0	0	1	3615	202	7	3		3	CNNM4	2	97463383	Silent	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	42000789	97463383	145735990	16	123821											
C2orf55	343990	broad.mit.edu	37	chr2	99439439	99439439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttccttcgggacactgcGttctggcccgtcgcgagcag	13	15	1	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:99439439G>A	uc002szf.1	-	7	1591	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	433	Pro-rich.										0						GGGACACTGCGTTCTGGCCCG	0.726													A	99439439	G	A	99439439	3	1	249	1	0	0	0	0	1	0	0	0	2176	1145	40	1	1607	1	C2orf55	2	99439439	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	1976056	99439439	143759934	17	123822											
POU3F3	5455	broad.mit.edu	37	chr2	105473289	105473289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagatcaccaacctggccGacagcctgcagctcgagaag	12	13	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:105473289G>A	uc010ywg.1	+	1	1321	c.1321G>A	c.(1321-1323)GAC>AAC	p.D441N		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	441	Homeobox.				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			ovary(1)	1						CAACCTGGCCGACAGCCTGCA	0.642													A	105473289	G	A	105473289	3	1	249	1	0	0	0	0	1	0	0	0	12276	1058	37	1	1323	1	POU3F3	2	105473289	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	6033850	105473289	137726084	18	123823											
TMEM177	80775	broad.mit.edu	37	chr2	120439335	120439335	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactctgtgctgcagatgtgGagggggatgctcaatccggg	17	8	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:120439335G>A	uc010flg.1	+	2	1379	c.906G>A	c.(904-906)TGG>TGA	p.W302*	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Nonsense_Mutation_p.W302*|TMEM177_uc002tmd.2_Nonsense_Mutation_p.W302*|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	302						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					TGCAGATGTGGAGGGGGATGC	0.572													A	120439335	G	A	120439335	4	1	249	1	0	0	0	0	0	1	0	0	16091	1183	41	4	908	4	TMEM177	2	120439335	Nonsense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	14966046	120439335	122760038	19	123824											
USP37	57695	broad.mit.edu	37	chr2	219319687	219319687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtcttccccacttccGtgctaagtgactgagagttc	11	11	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:219319687G>A	uc002vie.2	-	26	3359	c.2906C>T	c.(2905-2907)ACG>ATG	p.T969M	USP37_uc010fvs.1_Missense_Mutation_p.T969M|USP37_uc010zkf.1_Missense_Mutation_p.T969M|USP37_uc002vif.2_Missense_Mutation_p.T969M|USP37_uc002vig.2_Missense_Mutation_p.T875M	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	969					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		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)		CCCCACTTCCGTGCTAAGTGA	0.448													A	219319687	G	A	219319687	3	1	249	1	0	0	0	0	1	0	0	0	17065	1145	40	1	37	1	USP37	2	219319687	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	98880352	219319687	23879686	20	123825											
COL6A3	1293	broad.mit.edu	37	chr2	238280829	238280829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccaccttggggtcatcGctgaactggatgacagccac	10	13	1	2	rs114110705	by1000genomes	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:238280829G>A	uc002vwl.2	-	9	4116	c.3831C>T	c.(3829-3831)AGC>AGT	p.S1277S	COL6A3_uc002vwo.2_Silent_p.S1071S|COL6A3_uc010znj.1_Silent_p.S670S|COL6A3_uc002vwq.2_Silent_p.S1071S|COL6A3_uc002vwr.2_Silent_p.S870S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1277	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		TGGGGTCATCGCTGAACTGGA	0.612													A	238280829	G	A	238280829	2	1	249	1	0	0	0	0	0	0	0	1	3701	1078	38	1		1	COL6A3	2	238280829	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	18961142	238280829	4918544	21	123826											
STAC	6769	broad.mit.edu	37	chr3	36422159	36422159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctccgagcagcccccgCgaggacggcgtggacgggct	15	16	0	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr3:36422159C>T	uc003cgh.1	+	1	63	c.24C>T	c.(22-24)CGC>CGT	p.R8R	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.R8R	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	8					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						GCAGCCCCCGCGAGGACGGCG	0.726													T	36422159	C	T	36422159	2	4	249	1	0	0	0	0	0	0	0	1	15238	755	27	1		1	STAC	3	36422159	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		36422159	161600271	22	123827											
UBA7	7318	broad.mit.edu	37	chr3	49848017	49848017	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctatgtggtccatgtcaAcaacagtcaagcccccgctg	9	14	3	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr3:49848017A>G	uc003cxr.2	-	12	1571	c.1400T>C	c.(1399-1401)GTT>GCT	p.V467A		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	467	1-2.|2 approximate repeats.|ATP (By similarity).				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTCCATGTCAACAACAGTCAA	0.592													G	49848017	A	G	49848017	3	3	249	1	0	0	0	0	1	0	0	0	16830	43	2	3	1690	3	UBA7	3	49848017	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	13425858	49848017	148174413	23	123828											
PCOLCE2	26577	broad.mit.edu	37	chr3	142567084	142567084	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgtttggttcagcagcggaGaacatggccatgaagccatt	12	9	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr3:142567084G>T	uc003evd.2	-	3	619	c.423C>A	c.(421-423)TTC>TTA	p.F141L		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	141	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						CAGCAGCGGAGAACATGGCCA	0.468													T	142567084	G	T	142567084	3	4	249	1	0	0	0	0	1	0	0	0	11595	933	33	5	852	5	PCOLCE2	3	142567084	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	92719067	142567084	55455346	24	123829											
N4BP2	55728	broad.mit.edu	37	chr4	40127824	40127824	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcagagaacaggcaaaaaAttactgaagactttaacagc	7	8	1	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:40127824A>G	uc003guy.3	+	12	4739	c.4401A>G	c.(4399-4401)AAA>AAG	p.K1467K	N4BP2_uc010ifq.2_Silent_p.K1387K|N4BP2_uc010ifr.2_Silent_p.K1387K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1467						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CAGGCAAAAAATTACTGAAGA	0.338													G	40127824	A	G	40127824	2	3	249	1	0	0	0	0	0	0	0	1	10110	98	4	3		3	N4BP2	4	40127824	Silent	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08		40127824	151026452	25	123830											
SEC24B	10427	broad.mit.edu	37	chr4	110415869	110415869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagctccagctcctgtcGtccctcagccttcaaaaatg	6	16	3	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:110415869G>A	uc003hzk.2	+	6	1400	c.1345G>A	c.(1345-1347)GTC>ATC	p.V449I	SEC24B_uc003hzl.2_Missense_Mutation_p.V414I|SEC24B_uc011cfp.1_Missense_Mutation_p.V480I|SEC24B_uc011cfq.1_Missense_Mutation_p.V449I|SEC24B_uc011cfr.1_Missense_Mutation_p.V414I	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	449					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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTCCTGTCGTCCCTCAGCC	0.507													A	110415869	G	A	110415869	3	1	249	1	0	0	0	0	1	0	0	0	13995	1145	40	1	1367	1	SEC24B	4	110415869	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	70288045	110415869	80738407	26	123831											
ANK2	287	broad.mit.edu	37	chr4	114251533	114251533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgccgactggtcaagcGccacagactggcaacaatgc	10	15	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:114251533G>A	uc003ibe.3	+	27	3132	c.3032G>A	c.(3031-3033)CGC>CAC	p.R1011H	ANK2_uc003ibd.3_Missense_Mutation_p.R1002H|ANK2_uc003ibf.3_Missense_Mutation_p.R1011H|ANK2_uc011cgc.1_Missense_Mutation_p.R220H|ANK2_uc003ibg.3_Missense_Mutation_p.R39H|ANK2_uc003ibc.2_Missense_Mutation_p.R987H|ANK2_uc011cgb.1_Missense_Mutation_p.R1026H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1011	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGGTCAAGCGCCACAGACTG	0.562													A	114251533	G	A	114251533	3	1	249	1	0	0	0	0	1	0	0	0	621	1087	38	1	3203	1	ANK2	4	114251533	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	3835664	114251533	76902743	27	123832											
MND1	84057	broad.mit.edu	37	chr4	154315457	154315457	+	Frame_Shift_Del	DEL	T	T	-													tgcaagcctacagaaaagcaTtgagaaagctaaaattggcc							TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:154315456_154315456AT>A	uc003ink.2	+	4	408	c.319_319AT>A	c.(319-321)attfs	p.I107fs	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_Frame_Shift_Del_p.I107fs	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	107					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					ACAGAAAAGCATTGAGAAAGC	0.348													-	154315457	T	-	154315457	7	5	249	1	0	1	0	1	0	0	0	0	9675	1493	52	0	338	0	MND1	4	154315457	Frame_Shift_Del	DEL	T	TCGA-FP-A4BF-01A-12D-A24D-08	40063924	154315457	36838819	28	123833											
DCHS2	54798	broad.mit.edu	37	chr4	155241936	155241936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctactgttcaaaaaactgcCgtcatcatctttggcattga	6	10	5	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:155241936C>T	uc003inw.2	-	14	3250	c.3250G>A	c.(3250-3252)GGC>AGC	p.G1084S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1084	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAAAACTGCCGTCATCATCT	0.448													T	155241936	C	T	155241936	3	4	249	1	0	0	0	0	1	0	0	0	4288	652	23	1	5548	1	DCHS2	4	155241936	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	926479	155241936	35912340	29	123834											
ANKH	56172	broad.mit.edu	37	chr5	14713753	14713753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtgtcatcagccaccCggtgagatgcgccctcactg	10	15	4	1	rs28939080		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:14713753C>T	uc003jfm.3	-	10	1496	c.1165G>A	c.(1165-1167)GGG>AGG	p.G389R	ANKH_uc003jfl.3_Missense_Mutation_p.G102R	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	389	Cytoplasmic (Potential).				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			upper_aerodigestive_tract(1)	1						ATCAGCCACCCGGTGAGATGC	0.627													T	14713753	C	T	14713753	3	4	249	1	0	0	0	0	1	0	0	0	627	652	23	1	325	1	ANKH	5	14713753	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		14713753	166201507	30	123835											
CDH18	1016	broad.mit.edu	37	chr5	19838948	19838948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacccatccccttttgggacGatgatggacttcggtttcac	9	12	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:19838948G>A	uc003jgc.2	-	2	525	c.148C>T	c.(148-150)CGT>TGT	p.R50C	CDH18_uc003jgd.2_Missense_Mutation_p.R50C|CDH18_uc011cnm.1_Missense_Mutation_p.R50C	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTTTGGGACGATGATGGACT	0.418													A	19838948	G	A	19838948	3	1	249	1	0	0	0	0	1	0	0	0	3103	1058	37	1	2268	1	CDH18	5	19838948	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	5125195	19838948	161076312	31	123836											
HCN1	348980	broad.mit.edu	37	chr5	45396782	45396782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatagctttgaagagtgCgtatgaatactgctttcccc	8	10	1	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:45396782C>T	uc003jok.2	-	4	1067	c.1042G>A	c.(1042-1044)GCA>ACA	p.A348T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	348						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTGAAGAGTGCGTATGAATAC	0.448													T	45396782	C	T	45396782	3	4	249	1	0	0	0	0	1	0	0	0	6996	768	27	1	1650	1	HCN1	5	45396782	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	25557834	45396782	135518478	32	123837											
IQGAP2	10788	broad.mit.edu	37	chr5	75993866	75993866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctgaattggcaaaaCttcagcagaccctgaatgca	9	9	1	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:75993866C>T	uc003kek.2	+	33	4483	c.4261C>T	c.(4261-4263)CTT>TTT	p.L1421F	IQGAP2_uc011csv.1_Missense_Mutation_p.L917F|IQGAP2_uc003kel.2_Missense_Mutation_p.L917F|IQGAP2_uc010izw.1_Missense_Mutation_p.L122F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1421					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATTGGCAAAACTTCAGCAGAC	0.338													T	75993866	C	T	75993866	3	4	249	1	0	0	0	0	1	0	0	0	7815	565	20	4	4391	4	IQGAP2	5	75993866	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	30597084	75993866	104921394	33	123838											
ODZ2	57451	broad.mit.edu	37	chr5	167689445	167689445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggggtgaacgtgaccgtgtCccagcccacgctgctggtca	14	14	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:167689445C>A	uc010jjd.2	+	29	7928	c.7928C>A	c.(7927-7929)TCC>TAC	p.S2643Y	ODZ2_uc003lzr.3_Missense_Mutation_p.S2413Y|ODZ2_uc003lzt.3_Missense_Mutation_p.S2016Y|ODZ2_uc010jje.2_Missense_Mutation_p.S1907Y	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTGACCGTGTCCCAGCCCACG	0.602													A	167689445	C	A	167689445	3	1	249	1	0	0	0	0	1	0	0	0	10835	855	30	5	8042	5	ODZ2	5	167689445	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	91695579	167689445	13225815	34	123839											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552039	178552039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcaggcccggcggctctCgggccgggcgtcattgcagt	17	14	2	0	rs144138766	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:178552039C>T	uc003mjw.2	-	19	2893	c.2893G>A	c.(2893-2895)GAG>AAG	p.E965K		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	965	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		CGGCGGCTCTCGGGCCGGGCG	0.701													T	178552039	C	T	178552039	3	4	249	1	0	0	0	0	1	0	0	0	265	893	31	1	758	1	ADAMTS2	5	178552039	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	10862594	178552039	2363221	35	123840											
BAT4	7918	broad.mit.edu	37	chr6	31631743	31631743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccactcagctcacagacCcccacccaggcagccccacg	7	22	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:31631743C>T	uc003nvn.2	-	2	1158	c.513G>A	c.(511-513)GGG>GGA	p.G171G	BAT4_uc003nvo.3_Silent_p.G171G|BAT4_uc003nvp.3_Silent_p.G171G|BAT4_uc003nvq.2_Silent_p.G171G|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	171	ANK 2.					intracellular	nucleic acid binding				0						GCTCACAGACCCCCACCCAGG	0.657													T	31631743	C	T	31631743	2	4	249	1	0	0	0	0	0	0	0	1	1323	610	22	4		4	BAT4	6	31631743	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		31631743	139483324	36	123841											
PKHD1	5314	broad.mit.edu	37	chr6	51619732	51619732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccactgcatcttctactaTaattctgtaacagcataaca	3	11	3	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:51619732T>C	uc003pah.1	-	56	8923	c.8647A>G	c.(8647-8649)ATA>GTA	p.I2883V	PKHD1_uc010jzn.1_Missense_Mutation_p.I866V|PKHD1_uc003pai.2_Missense_Mutation_p.I2883V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2883	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTTCTACTATAATTCTGTAA	0.423													C	51619732	T	C	51619732	3	2	249	1	0	0	0	0	1	0	0	0	11971	1406	49	3	3664	3	PKHD1	6	51619732	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	19987989	51619732	119495335	37	123842											
CD109	135228	broad.mit.edu	37	chr6	74446106	74446106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtctggttttcattttagGaccccaaatcaaatttgatc	6	8	3	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:74446106G>T	uc003php.2	+	5	933	c.508G>T	c.(508-510)GAC>TAC	p.D170Y	CD109_uc010kaz.2_Missense_Mutation_p.D170Y|CD109_uc003phq.2_Missense_Mutation_p.D170Y|CD109_uc010kba.2_Missense_Mutation_p.D93Y	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	170						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						TTCATTTTAGGACCCCAAATC	0.423													T	74446106	G	T	74446106	3	4	249	1	0	0	0	0	1	0	0	0	2963	1188	41	5	526	5	CD109	6	74446106	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	22826374	74446106	96668961	38	123843			1	59		3	3	123	G		1.164866e-07
CD109	135228	broad.mit.edu	37	chr6	74446205	74446205	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcccatccaatacttggtGactggtctattcaagttcaa	6	11	3	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:74446205G>A	uc003php.2	+	5	1032	c.607G>A	c.(607-609)GAC>AAC	p.D203N	CD109_uc010kaz.2_Missense_Mutation_p.D203N|CD109_uc003phq.2_Missense_Mutation_p.D203N|CD109_uc010kba.2_Missense_Mutation_p.D126N	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	203						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AATACTTGGTGACTGGTCTAT	0.378													A	74446205	G	A	74446205	3	1	249	1	0	0	0	0	1	0	0	0	2963	1290	45	4	625	4	CD109	6	74446205	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	99	74446205	96668862	39	123844			1	59		3	3	123	G		1.164866e-07
CD109	135228	broad.mit.edu	37	chr6	74446228	74446228	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggtctattcaagttcaagtGaatgtgagtataaatatatt	8	3	3	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:74446228G>T	uc003php.2	+	5	1055	c.630G>T	c.(628-630)GTG>GTT	p.V210V	CD109_uc010kaz.2_Silent_p.V210V|CD109_uc003phq.2_Silent_p.V210V|CD109_uc010kba.2_Silent_p.V133V	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	210						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AAGTTCAAGTGAATGTGAGTA	0.353													T	74446228	G	T	74446228	2	4	249	1	0	0	0	0	0	0	0	1	2963	1277	45	5		5	CD109	6	74446228	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	23	74446228	96668839	40	123845			1	59		3	3	123	G		1.164866e-07
GRM1	2911	broad.mit.edu	37	chr6	146720426	146720426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatctgcaataccagcaacCtgggtgtggtggcccctttg	11	11	1	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:146720426C>T	uc010khw.1	+	8	2721	c.2251C>T	c.(2251-2253)CTG>TTG	p.L751L	GRM1_uc010khv.1_Silent_p.L751L|GRM1_uc003qll.2_Silent_p.L751L|GRM1_uc011edz.1_Silent_p.L751L|GRM1_uc011eea.1_Silent_p.L751L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	751	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TACCAGCAACCTGGGTGTGGT	0.527													T	146720426	C	T	146720426	2	4	249	1	0	0	0	0	0	0	0	1	6796	680	24	4		4	GRM1	6	146720426	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	72274198	146720426	24394641	41	123846											
PPIL4	85313	broad.mit.edu	37	chr6	149862660	149862660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatctaccaactcacctgtaCattgtgaataaggcaataat	5	9	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:149862660C>G	uc003qmo.1	-	2	163	c.133G>C	c.(133-135)GTA>CTA	p.V45L	PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.V45L	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	45	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTCACCTGTACATTGTGAATA	0.303													G	149862660	C	G	149862660	3	3	249	1	0	0	0	0	1	0	0	0	12329	478	17	5	1393	5	PPIL4	6	149862660	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	3142234	149862660	21252407	42	123847											
T	6862	broad.mit.edu	37	chr6	166580185	166580185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcggggtggatgtagacGcagctgggcgcctgcggctc	19	10	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:166580185G>A	uc003quu.1	-	3	859	c.366C>T	c.(364-366)TGC>TGT	p.C122C	T_uc003qut.1_Silent_p.C122C|T_uc003quv.1_Silent_p.C122C	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	122	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		GGATGTAGACGCAGCTGGGCG	0.652									Chordoma_Familial_Clustering_of				A	166580185	G	A	166580185	2	1	249	1	0	0	0	0	0	0	0	1	15485	1079	38	1		1	T	6	166580185	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	16717525	166580185	4534882	43	123848											
SDK1	221935	broad.mit.edu	37	chr7	4272903	4272903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgaaggcttatgggaCatgtttgtgaaggacatccc	13	7	0	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:4272903C>A	uc003smx.2	+	41	5983	c.5844C>A	c.(5842-5844)GAC>GAA	p.D1948E	SDK1_uc010kso.2_Missense_Mutation_p.D1204E|SDK1_uc003smy.2_Missense_Mutation_p.D435E|SDK1_uc003smz.2_Missense_Mutation_p.D8E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1948	Fibronectin type-III 13.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GCTTATGGGACATGTTTGTGA	0.592													A	4272903	C	A	4272903	3	1	249	1	0	0	0	0	1	0	0	0	13968	477	17	5	6006	5	SDK1	7	4272903	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		4272903	154865760	44	123849											
HOXA6	3203	broad.mit.edu	37	chr7	27185407	27185407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctcggtgaggcagagcGcgttggcgatctcgatgcgg	19	10	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:27185407G>A	uc003syo.1	-	2	572	c.572C>T	c.(571-573)GCG>GTG	p.A191V	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	191	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GAGGCAGAGCGCGTTGGCGAT	0.602													A	27185407	G	A	27185407	3	1	249	1	0	0	0	0	1	0	0	0	7296	1087	38	1	133	1	HOXA6	7	27185407	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	22912504	27185407	131953256	45	123850											
HOXA7	3204	broad.mit.edu	37	chr7	27194773	27194773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggtagcggttgaagtGgaactccttctccagctcca	11	12	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:27194773G>A	uc003sys.2	-	2	580	c.448C>T	c.(448-450)CAC>TAC	p.H150Y	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	150	Homeobox.				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				0						CGGTTGAAGTGGAACTCCTTC	0.602													A	27194773	G	A	27194773	3	1	249	1	0	0	0	0	1	0	0	0	7297	1348	47	4	248	4	HOXA7	7	27194773	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	9366	27194773	131943890	46	123851											
ABCA13	154664	broad.mit.edu	37	chr7	48259063	48259063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatggacaaggcaaaaAacttaaaaagactttgggta	10	4	0	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:48259063A>G	uc003toq.2	+	4	425	c.400A>G	c.(400-402)AAC>GAC	p.N134D	ABCA13_uc003top.2_Missense_Mutation_p.N134D|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	134					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAAGGCAAAAAACTTAAAAAG	0.438													G	48259063	A	G	48259063	3	3	249	1	0	0	0	0	1	0	0	0	31	14	1	3	243	3	ABCA13	7	48259063	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	21064290	48259063	110879600	47	123852											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73922447	73922447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgtgacgtccccaccAacggctgcggacccgaccgc	12	18	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:73922447A>G	uc003uaq.2	+	2	430	c.37A>G	c.(37-39)AAC>GAC	p.N13D	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.N13D|GTF2IRD1_uc003uap.2_Missense_Mutation_p.N13D|GTF2IRD1_uc003uar.1_Missense_Mutation_p.N13D	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	13						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CGTCCCCACCAACGGCTGCGG	0.632													G	73922447	A	G	73922447	3	3	249	1	0	0	0	0	1	0	0	0	6868	130	5	3	39	3	GTF2IRD1	7	73922447	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	25663384	73922447	85216216	48	123853											
LRWD1	222229	broad.mit.edu	37	chr7	102109363	102109363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctggccacaagaagcGctggagtgtgctggcggctg	17	10	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:102109363G>A	uc003uzn.2	+	9	1220	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	LRWD1_uc003uzo.2_Missense_Mutation_p.R209H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	361					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			skin(1)	1						CACAAGAAGCGCTGGAGTGTG	0.652													A	102109363	G	A	102109363	3	1	249	1	0	0	0	0	1	0	0	0	9047	1087	38	1	1116	1	LRWD1	7	102109363	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	28186916	102109363	57029300	49	123854											
KCNH2	3757	broad.mit.edu	37	chr7	150648900	150648900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccagccgcagcagccgCgcagtcttcagcagcccgat	11	18	2	0	rs150275982	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:150648900C>T	uc003wic.2	-	7	1594	c.1581G>A	c.(1579-1581)GCG>GCA	p.A527A	KCNH2_uc003wib.2_Silent_p.A187A|KCNH2_uc011kux.1_Silent_p.A431A|KCNH2_uc003wid.2_Silent_p.A187A|KCNH2_uc003wie.2_Silent_p.A527A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	527	Helical; Voltage-sensor; Name=Segment S4; (Potential).				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			skin(3)|ovary(1)	4	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)	GCAGCAGCCGCGCAGTCTTCA	0.667													T	150648900	C	T	150648900	2	4	249	1	0	0	0	0	0	0	0	1	8032	755	27	1		1	KCNH2	7	150648900	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	48539537	150648900	8489763	50	123855											
MMP16	4325	broad.mit.edu	37	chr8	89209481	89209481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggtctctgcagagcgcaGcactgacattctggggtcag	13	11	3	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr8:89209481G>T	uc003yeb.3	-	2	469	c.187C>A	c.(187-189)CTG>ATG	p.L63M	MMP16_uc003yec.2_Missense_Mutation_p.L63M	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	63					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GCAGAGCGCAGCACTGACATT	0.433													T	89209481	G	T	89209481	3	4	249	1	0	0	0	0	1	0	0	0	9655	962	34	5	1828	5	MMP16	8	89209481	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08		89209481	57154541	51	123856											
EFR3A	23167	broad.mit.edu	37	chr8	133014047	133014047	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttttgaagcattgaagaaAgcaattggtgagatattttg	10	3	0	4			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr8:133014047A>T	uc003yte.2	+	20	2400	c.2199A>T	c.(2197-2199)AAA>AAT	p.K733N		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	733						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	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)			CATTGAAGAAAGCAATTGGTG	0.328													T	133014047	A	T	133014047	3	4	249	1	0	0	0	0	1	0	0	0	4958	69	3	5	2277	5	EFR3A	8	133014047	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	43804566	133014047	13349975	52	123857											
TG	7038	broad.mit.edu	37	chr8	133885383	133885383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaccccagtgttctgcGgagggagagtttatgcctgt	12	11	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr8:133885383G>A	uc003ytw.2	+	5	596	c.555G>A	c.(553-555)GCG>GCA	p.A185A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	185	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		AGTGTTCTGCGGAGGGAGAGT	0.468													A	133885383	G	A	133885383	2	1	249	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TG	8	133885383	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	871336	133885383	12478639	53	123858											
CBWD1	55871	broad.mit.edu	37	chr9	178910	178910	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaatgggaaccaattcAggacaatcctcctccgcagg	9	13	2	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:178910A>T	uc003zga.3	-	1	166	c.60T>A	c.(58-60)CCT>CCA	p.P20P	CBWD1_uc003zgb.3_5'UTR|CBWD1_uc003zgc.3_Silent_p.P20P|CBWD1_uc011llr.1_5'UTR|CBWD1_uc003zgd.2_Silent_p.P20P	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1 isoform 1	20							ATP binding|protein binding			ovary(1)	1	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)		GAACCAATTCAGGACAATCCT	0.557													T	178910	A	T	178910	2	4	249	1	0	0	0	0	0	0	0	1	2712	175	7	5		5	CBWD1	9	178910	Silent	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08		178910	141034521	54	123859											
ERMP1	79956	broad.mit.edu	37	chr9	5797844	5797844	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaagtcaattttatagAatcccaaggtgtctgttctt	6	7	4	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:5797844A>C	uc003zjm.1	-	13	2413	c.2359T>G	c.(2359-2361)TCT>GCT	p.S787A	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.S401A	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	787	Extracellular (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATTTTATAGAATCCCAAGGT	0.353													C	5797844	A	C	5797844	3	2	249	1	0	0	0	0	1	0	0	0	5236	246	9	5	367	5	ERMP1	9	5797844	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	5618934	5797844	135415587	55	123860											
DENND4C	55667	broad.mit.edu	37	chr9	19346918	19346918	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actggtgcgttcttcgccacAtggctcgttgggttctgtag	13	10	2	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:19346918A>T	uc003znq.2	+	18	3329	c.3296A>T	c.(3295-3297)CAT>CTT	p.H1099L	DENND4C_uc011lnc.1_Missense_Mutation_p.H429L|DENND4C_uc011lnd.1_Missense_Mutation_p.H387L|DENND4C_uc003znr.2_Missense_Mutation_p.H387L|DENND4C_uc003zns.2_Missense_Mutation_p.H281L|DENND4C_uc003znt.2_Missense_Mutation_p.H281L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1099						integral to membrane				ovary(1)|skin(1)	2						TCTTCGCCACATGGCTCGTTG	0.443													T	19346918	A	T	19346918	3	4	249	1	0	0	0	0	1	0	0	0	4435	217	8	5	3366	5	DENND4C	9	19346918	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	13549074	19346918	121866513	56	123861											
KIAA1797	54914	broad.mit.edu	37	chr9	20923662	20923662	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttccttttgaacagggaGagtccggtagtgaaaggcaa	12	6	0	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:20923662G>A	uc003zog.1	+	27	3219	c.2856G>A	c.(2854-2856)GAG>GAA	p.E952E	KIAA1797_uc003zoh.1_Silent_p.E388E	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	952						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TGAACAGGGAGAGTCCGGTAG	0.463													A	20923662	G	A	20923662	2	1	249	1	0	0	0	0	0	0	0	1	8258	933	33	4		4	KIAA1797	9	20923662	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	1576744	20923662	120289769	57	123862											
GLIPR2	152007	broad.mit.edu	37	chr9	36150911	36150911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacagtgaaatcaagaactAtaacttccagcagcctggct	8	10	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:36150911A>G	uc003zyz.2	+	4	303	c.269A>G	c.(268-270)TAT>TGT	p.Y90C	GLIPR2_uc011lpj.1_Missense_Mutation_p.Y90C|GLIPR2_uc010mlf.1_Missense_Mutation_p.Y90C|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	90				IKNY -> VHFM (in Ref. 5; AAH17918).		extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						ATCAAGAACTATAACTTCCAG	0.522													G	36150911	A	G	36150911	3	3	249	1	0	0	0	0	1	0	0	0	6444	449	16	3	283	3	GLIPR2	9	36150911	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	15227249	36150911	105062520	58	123863											
CEP110	11064	broad.mit.edu	37	chr9	123935999	123935999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagaaactgcgtcaccGggaagaccgactcaaggttg	14	11	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:123935999G>A	uc004bkx.1	+	40	6762	c.6731G>A	c.(6730-6732)CGG>CAG	p.R2244Q	CEP110_uc004blb.1_Missense_Mutation_p.R913Q|CEP110_uc010mvp.1_Missense_Mutation_p.R194Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	2244	Sufficient for interaction with HOOK2.|Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						CTGCGTCACCGGGAAGACCGA	0.463													A	123935999	G	A	123935999	3	1	249	1	0	0	0	0	1	0	0	0	3245	1116	39	1	6889	1	CEP110	9	123935999	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	87785088	123935999	17277432	59	123864											
KIAA1217	56243	broad.mit.edu	37	chr10	24820924	24820924	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacatcaccgctaaggTctgataggctaagccctggt	12	10	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:24820924T>C	uc001iru.3	+	15	3649	c.3246_splice	c.e15+2	p.K1082_splice	KIAA1217_uc001irs.2_Splice_Site_p.K1002_splice|KIAA1217_uc001irt.3_Splice_Site_p.K1047_splice|KIAA1217_uc010qcy.1_Splice_Site_p.K1046_splice|KIAA1217_uc010qcz.1_Splice_Site_p.K1047_splice|KIAA1217_uc001irw.2_Splice_Site_p.K765_splice|KIAA1217_uc001irz.2_Splice_Site_p.K765_splice|KIAA1217_uc001irx.2_Splice_Site_p.K765_splice|KIAA1217_uc001iry.2_Splice_Site_p.K765_splice	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1						embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						ACCGCTAAGGTCTGATAGGCT	0.527													C	24820924	T	C	24820924	5	2	249	1	0	0	0	0	0	0	1	0	8216	1681	58	3	3306	3	KIAA1217	10	24820924	Splice_Site	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08		24820924	110713823	60	123865											
DKK1	22943	broad.mit.edu	37	chr10	54076175	54076175	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaagaaccaccttgtcttCaaaaatgtatcacaccaaag	5	11	3	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:54076175C>A	uc001jjr.2	+	3	681	c.527C>A	c.(526-528)TCA>TAA	p.S176*	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	176					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						ACCTTGTCTTCAAAAATGTAT	0.373													A	54076175	C	A	54076175	4	1	249	1	0	0	0	0	0	1	0	0	4544	838	29	5	537	5	DKK1	10	54076175	Nonsense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	29255251	54076175	81458572	61	123866											
ZWINT	11130	broad.mit.edu	37	chr10	58118611	58118611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctgctgcttcaggtttCcaagtttctgaaacaccctg	8	13	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:58118611C>T	uc001jjx.1	-	6	615	c.578G>A	c.(577-579)GGA>GAA	p.G193E	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.G193E|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	193	Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						CTTCAGGTTTCCAAGTTTCTG	0.542													T	58118611	C	T	58118611	3	4	249	1	0	0	0	0	1	0	0	0	18246	855	30	4	267	4	ZWINT	10	58118611	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	4042436	58118611	77416136	62	123867											
SLC18A2	6571	broad.mit.edu	37	chr10	119014801	119014801	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagtgggcccccccttCgggagtgtgctctatgagtt	13	13	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:119014801C>T	uc001ldd.1	+	7	745	c.714C>T	c.(712-714)TTC>TTT	p.F238F	SLC18A2_uc009xyy.1_Silent_p.F35F	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	238	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCCCCCCCTTCGGGAGTGTGC	0.592													T	119014801	C	T	119014801	2	4	249	1	0	0	0	0	0	0	0	1	14426	883	31	1		1	SLC18A2	10	119014801	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	60896190	119014801	16519946	63	123868											
FGFR2	2263	broad.mit.edu	37	chr10	123244998	123244998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggaatccctgggtagggCgagccccctaaagtgaagat	14	10	0	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:123244998C>T	uc010qtk.1	-	17	2753	c.2106G>A	c.(2104-2106)TCG>TCA	p.S702S	FGFR2_uc010qtg.1_Silent_p.S590S|FGFR2_uc010qth.1_Silent_p.S587S|FGFR2_uc010qti.1_Silent_p.S613S|FGFR2_uc010qtj.1_Silent_p.S703S|FGFR2_uc010qtl.1_Silent_p.S586S|FGFR2_uc010qtm.1_Silent_p.S585S|FGFR2_uc001lfl.3_Silent_p.S703S|FGFR2_uc001lfm.2_Silent_p.S614S|FGFR2_uc001lfg.3_Silent_p.S310S|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	702	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGGGTAGGGCGAGCCCCCTA	0.512		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				T	123244998	C	T	123244998	2	4	249	1	0	0	0	0	0	0	0	1	5866	755	27	1		1	FGFR2	10	123244998	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	4230197	123244998	12289749	64	123869											
TRIM5	85363	broad.mit.edu	37	chr11	5699631	5699631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagttgctcaaaatctgCcaagacgttggttttgtcat	8	9	4	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:5699631C>T	uc001mbm.1	-	4	804	c.547G>A	c.(547-549)GCA>ACA	p.A183T	TRIM5_uc001mbq.1_Missense_Mutation_p.A183T|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A183T|TRIM5_uc001mbo.2_Missense_Mutation_p.A183T|TRIM5_uc001mbp.2_Missense_Mutation_p.A183T	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	183	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		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)		TCAAAATCTGCCAAGACGTTG	0.468													T	5699631	C	T	5699631	3	4	249	1	0	0	0	0	1	0	0	0	16522	739	26	2	1193	2	TRIM5	11	5699631	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		5699631	129306885	65	123870											
CD6	923	broad.mit.edu	37	chr11	60785482	60785482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacccagccagcctttTcaggtaagctgtgcctcccc	9	18	1	0	rs140201536	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:60785482T>G	uc001nqq.2	+	11	2057	c.1834T>G	c.(1834-1836)TCA>GCA	p.S612A	CD6_uc001nqp.2_Missense_Mutation_p.S612A|CD6_uc001nqr.2_Missense_Mutation_p.S580A|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.S571A	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	612	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						GCCAGCCTTTTCAGGTAAGCT	0.532													G	60785482	T	G	60785482	3	3	249	1	0	0	0	0	1	0	0	0	3028	1783	62	5	1876	5	CD6	11	60785482	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	55085851	60785482	74221034	66	123871											
SF1	7536	broad.mit.edu	37	chr11	64537512	64537512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgactttatcactcacacGtgttgctggaggtctaagaa	9	9	3	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:64537512G>A	uc001obb.1	-	5	780	c.403C>T	c.(403-405)CGT>TGT	p.R135C	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.R109C|SF1_uc001oaz.1_Missense_Mutation_p.R260C|SF1_uc001oba.1_Missense_Mutation_p.R135C|SF1_uc001obc.1_Missense_Mutation_p.R135C|SF1_uc001obd.1_Missense_Mutation_p.R135C|SF1_uc001obe.1_Missense_Mutation_p.R20C|SF1_uc010rno.1_Missense_Mutation_p.R20C	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 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			ovary(1)|breast(1)|skin(1)	3						TCACTCACACGTGTTGCTGGA	0.468													A	64537512	G	A	64537512	3	1	249	1	0	0	0	0	1	0	0	0	14145	1145	40	1	1690	1	SF1	11	64537512	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	3752030	64537512	70469004	67	123872											
LTBP3	4054	broad.mit.edu	37	chr11	65321232	65321232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctgggtgggcggccgGgggtgcgagggcttggggtg	25	7	1	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:65321232G>A	uc001oej.2	-	3	1073	c.804C>T	c.(802-804)CCC>CCT	p.P268P	LTBP3_uc010roi.1_Silent_p.P151P|LTBP3_uc001oei.2_Silent_p.P268P|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Silent_p.P179P	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	268						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TGGGCGGCCGGGGGTGCGAGG	0.682													A	65321232	G	A	65321232	2	1	249	1	0	0	0	0	0	0	0	1	9075	1219	43	4		4	LTBP3	11	65321232	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	783720	65321232	69685284	68	123873											
AIP	9049	broad.mit.edu	37	chr11	67256814	67256814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccccctggagggccagcGgcactgctgcggtgttgcac	16	14	0	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:67256814G>A	uc001olv.2	+	3	481	c.356G>A	c.(355-357)CGG>CAG	p.R119Q		NM_003977	NP_003968	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	119	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0						GAGGGCCAGCGGCACTGCTGC	0.667									Familial_Isolated_Pituitary_Adenoma_				A	67256814	G	A	67256814	3	1	249	1	0	0	0	0	1	0	0	0	435	1116	39	1	366	1	AIP	11	67256814	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	1935582	67256814	67749702	69	123874											
FAT3	120114	broad.mit.edu	37	chr11	92532287	92532287	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctacctcaggggtcattcaGacgactggagtcccctttga	10	12	4	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:92532287G>T	uc001pdj.3	+	9	6125	c.6108G>T	c.(6106-6108)CAG>CAT	p.Q2036H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2036	Extracellular (Potential).|Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGTCATTCAGACGACTGGAG	0.473										TCGA Ovarian(4;0.039)			T	92532287	G	T	92532287	3	4	249	1	0	0	0	0	1	0	0	0	5691	933	33	5	6142	5	FAT3	11	92532287	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	25275473	92532287	42474229	70	123875											
OR8B3	390271	broad.mit.edu	37	chr11	124266426	124266428	+	In_Frame_Del	DEL	AGA	AGA	-													accacattagtgtagaaaacAgaagaaacttttccctgctc							TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:124266425_124266427CAGA>C	uc010saj.2	-	0	821_823	c.821_823TCTG>G	c.(820-825)tctgtt>tGtt	p.274_275SV>C	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	274					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)		GTGTAGAAAACAGAAGAAACTTT	0.399													-	124266428	AGA	-	124266426	7	5	249	1	0	1	0	1	0	0	0	0	11228	175	7	0	121	0	OR8B3	11	124266426	In_Frame_Del	DEL	AGA	TCGA-FP-A4BF-01A-12D-A24D-08	31734139	124266426	10740090	71	123876											
SLCO1B1	10599	broad.mit.edu	37	chr12	21377657	21377657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttctcctattacaggAggaattctagctccaatata	5	10	3	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:21377657A>G	uc001req.3	+	14	1853	c.1749A>G	c.(1747-1749)GGA>GGG	p.G583G		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	583	Helical; Name=11; (Potential).				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			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTATTACAGGAGGAATTCTAG	0.353													G	21377657	A	G	21377657	2	3	249	1	0	0	0	0	0	0	0	1	14723	318	11	3		3	SLCO1B1	12	21377657	Silent	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08		21377657	112474238	72	123877											
ABCD2	225	broad.mit.edu	37	chr12	40013206	40013206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaggtttttcacaaatgGtctcggtgcaatgcagtatt	11	7	2	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:40013206G>A	uc001rmb.2	-	1	638	c.212C>T	c.(211-213)ACC>ATC	p.T71I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	71	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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						TTCACAAATGGTCTCGGTGCA	0.438													A	40013206	G	A	40013206	3	1	249	1	0	0	0	0	1	0	0	0	61	1261	44	4	2050	4	ABCD2	12	40013206	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	18635549	40013206	93838689	73	123878											
LRRK2	120892	broad.mit.edu	37	chr12	40677750	40677750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcgtgaacaagatgtacGaaaagcgttgacgataagca	10	7	1	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:40677750G>A	uc001rmg.3	+	19	2436	c.2315G>A	c.(2314-2316)CGA>CAA	p.R772Q	LRRK2_uc001rmh.1_Missense_Mutation_p.R394Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	772					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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAAGATGTACGAAAAGCGTTG	0.418													A	40677750	G	A	40677750	3	1	249	1	0	0	0	0	1	0	0	0	9033	1058	37	1	2389	1	LRRK2	12	40677750	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	664544	40677750	93174145	74	123879											
FAM19A2	338811	broad.mit.edu	37	chr12	62147502	62147502	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agacatggctgcatatggcaCcaccatttctgttccactat	7	12	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:62147502C>G	uc001sqw.2	-	4	1798	c.285G>C	c.(283-285)TGG>TGC	p.W95C	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.W95C|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	95						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GCATATGGCACCACCATTTCT	0.393													G	62147502	C	G	62147502	3	3	249	1	0	0	0	0	1	0	0	0	5532	508	18	5	118	5	FAM19A2	12	62147502	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	21469752	62147502	71704393	75	123880											
PTPRB	5787	broad.mit.edu	37	chr12	70954515	70954515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagttaccacccacagcacGtacttccttccaggaacaag	7	14	0	1	rs111361328		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:70954515G>A	uc001swb.3	-	15	3744	c.3714C>T	c.(3712-3714)TAC>TAT	p.Y1238Y	PTPRB_uc010sto.1_Silent_p.Y1148Y|PTPRB_uc010stp.1_Silent_p.Y1148Y|PTPRB_uc001swc.3_Silent_p.Y1456Y|PTPRB_uc001swa.3_Silent_p.Y1368Y|PTPRB_uc001swd.3_Silent_p.Y1455Y|PTPRB_uc009zrr.1_Silent_p.Y1335Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1238	Fibronectin type-III 14.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			CCCACAGCACGTACTTCCTTC	0.512													A	70954515	G	A	70954515	2	1	249	1	0	0	0	0	0	0	0	1	12796	1140	40	1		1	PTPRB	12	70954515	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	8807013	70954515	62897380	76	123881											
C12orf50	160419	broad.mit.edu	37	chr12	88379767	88379767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatataggatgcattctccGcatttcgatttttattattg	8	6	1	0	rs138726983		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:88379767G>A	uc001tam.1	-	11	1154	c.986C>T	c.(985-987)GCG>GTG	p.A329V	C12orf50_uc001tan.2_Missense_Mutation_p.A344V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	329										skin(2)|ovary(1)	3						TGCATTCTCCGCATTTCGATT	0.463													A	88379767	G	A	88379767	3	1	249	1	0	0	0	0	1	0	0	0	1695	1087	38	1	270	1	C12orf50	12	88379767	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	17425252	88379767	45472128	77	123882											
PLXNC1	10154	broad.mit.edu	37	chr12	94603439	94603439	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttcgtctggagcaaaaAagtgccctaaaattcagata	7	7	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:94603439A>C	uc001tdc.2	+	5	1762	c.1513A>C	c.(1513-1515)AAG>CAG	p.K505Q		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	505	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TGGAGCAAAAAAGTGCCCTAA	0.383													C	94603439	A	C	94603439	3	2	249	1	0	0	0	0	1	0	0	0	12126	15	1	5	1531	5	PLXNC1	12	94603439	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	6223672	94603439	39248456	78	123883											
SACS	26278	broad.mit.edu	37	chr13	23907231	23907231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaacaactgctgctgagaaAgtatgtattttagtccaata	8	6	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr13:23907231A>G	uc001uon.2	-	10	11373	c.10784T>C	c.(10783-10785)CTT>CCT	p.L3595P	SACS_uc001uoo.2_Missense_Mutation_p.L3448P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3595					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CTGCTGAGAAAGTATGTATTT	0.328													G	23907231	A	G	23907231	3	3	249	1	0	0	0	0	1	0	0	0	13804	72	3	3	2959	3	SACS	13	23907231	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08		23907231	91262647	79	123884											
NBEA	26960	broad.mit.edu	37	chr13	36242611	36242611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaactgtacatttaccctgGatgtgatgctggcattagag	11	8	0	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr13:36242611G>A	uc001uvb.2	+	57	8911	c.8705G>A	c.(8704-8706)GGA>GAA	p.G2902E	NBEA_uc010abi.2_Missense_Mutation_p.G1560E|NBEA_uc010tef.1_Missense_Mutation_p.G695E|NBEA_uc001uvd.2_Missense_Mutation_p.G480E	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2902	WD 5.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		ATTTACCCTGGATGTGATGCT	0.527													A	36242611	G	A	36242611	3	1	249	1	0	0	0	0	1	0	0	0	10187	1174	41	4	8931	4	NBEA	13	36242611	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	12335380	36242611	78927267	80	123885											
NALCN	259232	broad.mit.edu	37	chr13	101712256	101712256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcgggttcagaaaccGgctcagctcttgctgctgac	14	12	3	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr13:101712256G>A	uc001vox.1	-	42	5008	c.4819C>T	c.(4819-4821)CGG>TGG	p.R1607W		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1607	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCAGAAACCGGCTCAGCTCT	0.532													A	101712256	G	A	101712256	3	1	249	1	0	0	0	0	1	0	0	0	10148	1115	39	1	409	1	NALCN	13	101712256	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	65469645	101712256	13457622	81	123886											
RTN1	6252	broad.mit.edu	37	chr14	60194151	60194151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcggccatggggtcctcGgacaccagctcgatctctga	12	15	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:60194151G>A	uc001xen.1	-	3	1460	c.1251C>T	c.(1249-1251)TCC>TCT	p.S417S	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	417					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGGGTCCTCGGACACCAGCT	0.716													A	60194151	G	A	60194151	2	1	249	1	0	0	0	0	0	0	0	1	13725	1103	39	1		1	RTN1	14	60194151	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08		60194151	47155389	82	123887											
ACOT1	641371	broad.mit.edu	37	chr14	74009927	74009927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccctgtgggcgtcaaCagaaatcgcatcaaggtgac	11	13	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:74009927C>T	uc001xol.1	+	3	1032	c.834C>T	c.(832-834)AAC>AAT	p.N278N	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	278					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		TGGGCGTCAACAGAAATCGCA	0.552													T	74009927	C	T	74009927	2	4	249	1	0	0	0	0	0	0	0	1	148	477	17	4		4	ACOT1	14	74009927	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	13815776	74009927	33339613	83	123888											
ESRRB	2103	broad.mit.edu	37	chr14	76964735	76964735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgcagcacttctatagCgtcaaactgcagggcaaagt	11	11	2	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:76964735C>T	uc001xsq.1	+	7	1303	c.1236C>T	c.(1234-1236)AGC>AGT	p.S412S	ESRRB_uc001xsr.2_Silent_p.S412S|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	412						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACTTCTATAGCGTCAAACTGC	0.627													T	76964735	C	T	76964735	2	4	249	1	0	0	0	0	0	0	0	1	5261	767	27	1		1	ESRRB	14	76964735	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	2954808	76964735	30384805	84	123889											
SEL1L	6400	broad.mit.edu	37	chr14	81972485	81972485	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccacagtctgccatcTtccctcccatctgatgtaca	5	17	3	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:81972485T>G	uc010tvv.1	-	4	558	c.441A>C	c.(439-441)GAA>GAC	p.E147D	SEL1L_uc001xvo.3_Missense_Mutation_p.E147D	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	147	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTCTGCCATCTTCCCTCCCAT	0.468													G	81972485	T	G	81972485	3	3	249	1	0	0	0	0	1	0	0	0	14010	1606	56	5	2015	5	SEL1L	14	81972485	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	5007750	81972485	25377055	85	123890											
AHNAK2	113146	broad.mit.edu	37	chr14	105416313	105416313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacggcatcttgaacttgggCattttgaacttgctgtcttt	10	8	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:105416313C>G	uc010axc.1	-	7	5595	c.5475G>C	c.(5473-5475)ATG>ATC	p.M1825I	AHNAK2_uc001ypx.2_Missense_Mutation_p.M1725I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1825						nucleus				ovary(1)	1		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)			TGAACTTGGGCATTTTGAACT	0.612													G	105416313	C	G	105416313	3	3	249	1	0	0	0	0	1	0	0	0	415	710	25	5	11916	5	AHNAK2	14	105416313	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	23443828	105416313	1933227	86	123891											
SNRPN	6638	broad.mit.edu	37	chr15	25220656	25220656	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagttcagaaagatcaAgtaaggctgatttgggcaaa	12	4	2	5			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr15:25220656A>C	uc001ywp.1	+	8	1045	c.155A>C	c.(154-156)AAG>ACG	p.K52T	SNRPN_uc001ywq.1_Missense_Mutation_p.K52T|SNRPN_uc001ywr.1_Missense_Mutation_p.K52T|SNRPN_uc001yws.1_Missense_Mutation_p.K52T|SNRPN_uc001ywt.1_Missense_Mutation_p.K52T|SNRPN_uc001ywv.1_Missense_Mutation_p.K55T|SNRPN_uc001yww.1_Missense_Mutation_p.K52T|SNRPN_uc001ywx.1_Missense_Mutation_p.K52T|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	52					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGAAAGATCAAGTAAGGCTGA	0.463									Prader-Willi_syndrome				C	25220656	A	C	25220656	3	2	249	1	0	0	0	0	1	0	0	0	14870	86	3	5	161	5	SNRPN	15	25220656	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08		25220656	77310736	87	123892											
IDH3A	3419	broad.mit.edu	37	chr15	78461297	78461297	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttgggaggcaatgcaaaaTgctcagacttcacagaggaa	11	7	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr15:78461297T>A	uc002bdd.2	+	11	1078	c.1051T>A	c.(1051-1053)TGC>AGC	p.C351S	IDH3A_uc010umt.1_Missense_Mutation_p.C316S|IDH3A_uc010umu.1_Missense_Mutation_p.C242S|IDH3A_uc002bde.2_Missense_Mutation_p.C301S|IDH3A_uc010umv.1_Missense_Mutation_p.C301S|IDH3A_uc002bdf.2_Missense_Mutation_p.C202S|IDH3A_uc002bdg.2_Missense_Mutation_p.C264S	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	351					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CAATGCAAAATGCTCAGACTT	0.368													A	78461297	T	A	78461297	3	1	249	1	0	0	0	0	1	0	0	0	7496	1464	51	5	1093	5	IDH3A	15	78461297	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	53240641	78461297	24070095	88	123893											
SPSB3	90864	broad.mit.edu	37	chr16	1828608	1828608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggggtcggagtccgagtcGctgtgctgggagagaagggc	20	8	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:1828608G>T	uc002cmr.2	-	2	165	c.132C>A	c.(130-132)AGC>AGA	p.S44R	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.S44R|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.S99R	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	44					intracellular signal transduction						0						AGTCCGAGTCGCTGTGCTGGG	0.662													T	1828608	G	T	1828608	3	4	249	1	0	0	0	0	1	0	0	0	15113	1078	38	5	955	5	SPSB3	16	1828608	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08		1828608	88526145	89	123894											
ZNF213	7760	broad.mit.edu	37	chr16	3190925	3190925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagaagccgcacagctgCgggcagtgtggaaagcgctt	16	11	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:3190925C>T	uc010uws.1	+	6	1404	c.957C>T	c.(955-957)TGC>TGT	p.C319C	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.C319C|ZNF213_uc010uwt.1_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	319	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGCACAGCTGCGGGCAGTGTG	0.736													T	3190925	C	T	3190925	2	4	249	1	0	0	0	0	0	0	0	1	17766	776	27	1		1	ZNF213	16	3190925	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	1362317	3190925	87163828	90	123895											
MMP2	4313	broad.mit.edu	37	chr16	55513517	55513517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttccccggcgatgtcgcCcccaaaacggacaaagagtt	10	13	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:55513517C>T	uc002ehz.3	+	1	437	c.126C>T	c.(124-126)GCC>GCT	p.A42A	MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	42					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		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)	GCGATGTCGCCCCCAAAACGG	0.642													T	55513517	C	T	55513517	2	4	249	1	0	0	0	0	0	0	0	1	9658	610	22	4		4	MMP2	16	55513517	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	52322592	55513517	34841236	91	123896											
LPCAT2	54947	broad.mit.edu	37	chr16	55584873	55584873	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttagattagattgggaTggtgttcgtaagcatttgga	13	2	0	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:55584873T>A	uc002eie.3	+	11	1255	c.1074T>A	c.(1072-1074)GAT>GAA	p.D358E	LPCAT2_uc002eic.2_Missense_Mutation_p.D88E	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	358	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						TAGATTGGGATGGTGTTCGTA	0.318													A	55584873	T	A	55584873	3	1	249	1	0	0	0	0	1	0	0	0	8911	1461	51	5	1116	5	LPCAT2	16	55584873	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	71356	55584873	34769880	92	123897											
ANKRD11	29123	broad.mit.edu	37	chr16	89351692	89351692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttctctcctgtccccaCggtgacactcgcgtcctcct	7	19	1	1	rs147180412	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:89351692C>T	uc002fmx.1	-	9	1719	c.1258G>A	c.(1258-1260)GTG>ATG	p.V420M	ANKRD11_uc002fmy.1_Missense_Mutation_p.V420M|ANKRD11_uc002fnc.1_Missense_Mutation_p.V420M|ANKRD11_uc002fnb.1_Missense_Mutation_p.V377M	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	420						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		CCTGTCCCCACGGTGACACTC	0.468													T	89351692	C	T	89351692	3	4	249	1	0	0	0	0	1	0	0	0	639	536	19	1	6753	1	ANKRD11	16	89351692	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	33766819	89351692	1003061	93	123898											
ANKRD11	29123	broad.mit.edu	37	chr16	89357494	89357494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgctcggagagggggtaGccggctcggattccagacag	18	10	0	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:89357494G>A	uc002fmx.1	-	5	785	c.324C>T	c.(322-324)GGC>GGT	p.G108G	ANKRD11_uc002fmy.1_Silent_p.G108G|ANKRD11_uc002fnc.1_Silent_p.G108G|ANKRD11_uc002fnd.2_Silent_p.G74G|ANKRD11_uc002fne.2_Silent_p.G74G|ANKRD11_uc002fnb.1_Silent_p.G65G	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	108						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		AGAGGGGGTAGCCGGCTCGGA	0.657													A	89357494	G	A	89357494	2	1	249	1	0	0	0	0	0	0	0	1	639	958	34	2		2	ANKRD11	16	89357494	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	5802	89357494	997259	94	123899											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577094	G	A	7577094	3	1	249	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08		7577094	73618116	95	123900											
PYY	5697	broad.mit.edu	37	chr17	42030487	42030487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttttaccgcgacctgaCggggcggtcctcgccgtcgg	15	15	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr17:42030487C>T	uc002ieq.2	-	6	800	c.259G>A	c.(259-261)GTC>ATC	p.V87I	PYY_uc002ier.1_Missense_Mutation_p.V87I	NM_004160	NP_004151	P10082	PYY_HUMAN	peptide YY precursor	87					cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction					0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGCGACCTGACGGGGCGGTCC	0.632													T	42030487	C	T	42030487	3	4	249	1	0	0	0	0	1	0	0	0	12868	536	19	1	42	1	PYY	17	42030487	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	34453393	42030487	39164723	96	123901											
MPO	4353	broad.mit.edu	37	chr17	56349209	56349209	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccagctggcccacagTttcaggctgcgggagcccac	13	16	1	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr17:56349209T>G	uc002ivu.1	-	11	2014	c.1837A>C	c.(1837-1839)ACT>CCT	p.T613P		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	613					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			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	TGGCCCACAGTTTCAGGCTGC	0.607													G	56349209	T	G	56349209	3	3	249	1	0	0	0	0	1	0	0	0	9732	1725	60	5	408	5	MPO	17	56349209	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	14318722	56349209	24846001	97	123902											
LAMA1	284217	broad.mit.edu	37	chr18	7013889	7013889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaggcgtcccccgacgtCcccctcaggtcacagtcaca	9	18	3	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:7013889C>T	uc002knm.2	-	23	3382	c.3288G>A	c.(3286-3288)GGG>GGA	p.G1096G	LAMA1_uc010wzj.1_Silent_p.G572G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1096	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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCCGACGTCCCCCTCAGGT	0.587													T	7013889	C	T	7013889	2	4	249	1	0	0	0	0	0	0	0	1	8605	842	30	4		4	LAMA1	18	7013889	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		7013889	71063359	98	123903											
LRRC30	339291	broad.mit.edu	37	chr18	7231664	7231664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaacaacttcttcgcGcacatccccatgtgtgtgtt	7	14	2	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:7231664G>A	uc010wzk.1	+	1	528	c.528G>A	c.(526-528)GCG>GCA	p.A176A		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176	LRR 5.									ovary(1)|liver(1)	2						ACTTCTTCGCGCACATCCCCA	0.552													A	7231664	G	A	7231664	2	1	249	1	0	0	0	0	0	0	0	1	8985	1074	38	1		1	LRRC30	18	7231664	Silent	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	217775	7231664	70845584	99	123904											
PTPRM	5797	broad.mit.edu	37	chr18	8394487	8394487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacaggaacgggggaggcCgcagtgggacgttctgcgcc	18	11	1	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:8394487C>T	uc002knn.3	+	30	4686	c.4183C>T	c.(4183-4185)CGC>TGC	p.R1395C	PTPRM_uc010dkv.2_Missense_Mutation_p.R1408C|PTPRM_uc010wzl.1_Missense_Mutation_p.R1182C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1395	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CGGGGGAGGCCGCAGTGGGAC	0.522													T	8394487	C	T	8394487	3	4	249	1	0	0	0	0	1	0	0	0	12806	652	23	1	4348	1	PTPRM	18	8394487	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	1162823	8394487	69682761	100	123905											
SERPINB8	5271	broad.mit.edu	37	chr18	61652443	61652443	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagaggagctgagcatggtCattctgcttcccgatgacaa	12	9	2	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:61652443C>T	uc002ljv.2	+	6	853	c.684C>T	c.(682-684)GTC>GTT	p.V228V	SERPINB8_uc002ljt.2_Silent_p.V228V|SERPINB8_uc002lju.2_Silent_p.V228V|SERPINB8_uc010xex.1_Silent_p.V46V	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	228					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TGAGCATGGTCATTCTGCTTC	0.488													T	61652443	C	T	61652443	2	4	249	1	0	0	0	0	0	0	0	1	14107	813	29	4		4	SERPINB8	18	61652443	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	53257956	61652443	16424805	101	123906											
ABCA7	10347	broad.mit.edu	37	chr19	1052101	1052101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgctggtgaaggcccgCctgcccctgaccaccaatga	11	16	0	4			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:1052101C>T	uc002lqw.3	+	22	3354	c.3123C>T	c.(3121-3123)CGC>CGT	p.R1041R	ABCA7_uc010dsb.1_Silent_p.R903R	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1041					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		TGAAGGCCCGCCTGCCCCTGA	0.672													T	1052101	C	T	1052101	2	4	249	1	0	0	0	0	0	0	0	1	37	726	26	2		2	ABCA7	19	1052101	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		1052101	58076882	102	123907											
ADAT3	113179	broad.mit.edu	37	chr19	1912907	1912907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtaaactggacgcagaCgaggacggcctcccctacct	12	14	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:1912907C>T	uc002luh.2	+	2	1041	c.813C>T	c.(811-813)GAC>GAT	p.D271D	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	271					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		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)		TGGACGCAGACGAGGACGGCC	0.711													T	1912907	C	T	1912907	2	4	249	1	0	0	0	0	0	0	0	1	286	535	19	1		1	ADAT3	19	1912907	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	860806	1912907	57216076	103	123908											
MKNK2	2872	broad.mit.edu	37	chr19	2043545	2043545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctccacctccctgaaaaCcctgctccgaatgtggcctg	7	17	1	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:2043545C>A	uc002lus.2	-	6	621	c.376G>T	c.(376-378)GTT>TTT	p.V126F	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Missense_Mutation_p.V126F|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	126	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			lung(1)|breast(1)	2		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)		TCCCTGAAAACCCTGCTCCGA	0.582													A	2043545	C	A	2043545	3	1	249	1	0	0	0	0	1	0	0	0	9605	507	18	5	1152	5	MKNK2	19	2043545	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	130638	2043545	57085438	104	123909											
MUC16	94025	broad.mit.edu	37	chr19	9056839	9056839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgcagaagaggtgaAatcagtcttggaactctgta	11	5	3	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:9056839A>C	uc002mkp.2	-	3	30811	c.30607T>G	c.(30607-30609)TTC>GTC	p.F10203V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10205	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAAGAGGTGAAATCAGTCTTG	0.468													C	9056839	A	C	9056839	3	2	249	1	0	0	0	0	1	0	0	0	9973	14	1	5	13244	5	MUC16	19	9056839	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	7013294	9056839	50072144	105	123910											
MUC16	94025	broad.mit.edu	37	chr19	9067293	9067293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagataggcaggctggggAtcacttcagtggagatgtct	17	6	3	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:9067293A>G	uc002mkp.2	-	3	20357	c.20153T>C	c.(20152-20154)ATC>ACC	p.I6718T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6720	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGGCTGGGGATCACTTCAGT	0.488													G	9067293	A	G	9067293	3	3	249	1	0	0	0	0	1	0	0	0	9973	333	12	3	23698	3	MUC16	19	9067293	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	10454	9067293	50061690	106	123911											
SPTBN4	57731	broad.mit.edu	37	chr19	41009902	41009902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcgggtggcagcccagCgtgacagcgtcctgcgccag	16	15	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:41009902C>T	uc002ony.2	+	12	1614	c.1528C>T	c.(1528-1530)CGT>TGT	p.R510C	SPTBN4_uc002onx.2_Missense_Mutation_p.R510C|SPTBN4_uc002onz.2_Missense_Mutation_p.R510C	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	510	Spectrin 3.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCAGCCCAGCGTGACAGCGT	0.657													T	41009902	C	T	41009902	3	4	249	1	0	0	0	0	1	0	0	0	15120	768	27	1	1570	1	SPTBN4	19	41009902	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	31942609	41009902	18119081	107	123912											
CYP2A6	1548	broad.mit.edu	37	chr19	41354143	41354143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccccgtggaggttgacGtgaactggaagattcctagc	13	11	0	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:41354143G>A	uc002opl.3	-	4	656	c.635C>T	c.(634-636)ACG>ATG	p.T212M	CYP2A6_uc010ehe.1_Missense_Mutation_p.T8M|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	212					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGAGGTTGACGTGAACTGGAA	0.562													A	41354143	G	A	41354143	3	1	249	1	0	0	0	0	1	0	0	0	4162	1145	40	1	873	1	CYP2A6	19	41354143	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	344241	41354143	17774840	108	123913											
LILRB1	10859	broad.mit.edu	37	chr19	55144127	55144127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtgagccgctcctacGggggccagtacagatgctac	13	14	0	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:55144127G>A	uc002qgj.2	+	7	1214	c.874G>A	c.(874-876)GGG>AGG	p.G292R	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.G292R|LILRB1_uc002qgk.2_Missense_Mutation_p.G292R|LILRB1_uc002qgm.2_Missense_Mutation_p.G292R|LILRB1_uc010erq.2_Missense_Mutation_p.G292R|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	292	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCGCTCCTACGGGGGCCAGTA	0.667										HNSCC(37;0.09)			A	55144127	G	A	55144127	3	1	249	1	0	0	0	0	1	0	0	0	8790	1116	39	1	892	1	LILRB1	19	55144127	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	13789984	55144127	3984856	109	123914											
ZNF329	79673	broad.mit.edu	37	chr19	58639529	58639529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctcaccagtatgagTcctctggtgcctaatgaggc	12	11	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:58639529T>C	uc002qrn.2	-	4	1579	c.1342A>G	c.(1342-1344)ACT>GCT	p.T448A	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	448	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		CCAGTATGAGTCCTCTGGTGC	0.502													C	58639529	T	C	58639529	3	2	249	1	0	0	0	0	1	0	0	0	17844	1667	58	3	287	3	ZNF329	19	58639529	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	3495402	58639529	489454	110	123915											
CPXM1	56265	broad.mit.edu	37	chr20	2775009	2775009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccgtgtcactgaatggtAgccctcggcactggcagtca	12	12	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:2775009A>G	uc002wgu.2	-	14	2096	c.2032T>C	c.(2032-2034)TAC>CAC	p.Y678H	CPXM1_uc010gas.2_Missense_Mutation_p.Y604H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	678					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						ACTGAATGGTAGCCCTCGGCA	0.602													G	2775009	A	G	2775009	3	3	249	1	0	0	0	0	1	0	0	0	3837	420	15	3	176	3	CPXM1	20	2775009	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08		2775009	60250511	111	123916											
XRN2	22803	broad.mit.edu	37	chr20	21321389	21321389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctttcactcctagtggaAtattaactcctcatgccttg	6	12	2	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:21321389A>C	uc002wsf.1	+	15	1404	c.1309A>C	c.(1309-1311)ATA>CTA	p.I437L	XRN2_uc002wsg.1_Missense_Mutation_p.I361L|XRN2_uc010zsk.1_Missense_Mutation_p.I383L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	437					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			skin(1)	1						TCCTAGTGGAATATTAACTCC	0.378													C	21321389	A	C	21321389	3	2	249	1	0	0	0	0	1	0	0	0	17457	101	4	5	1367	5	XRN2	20	21321389	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	18546380	21321389	41704131	112	123917											
DSN1	79980	broad.mit.edu	37	chr20	35399407	35399407	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagacaaatgaagggacttcGactgaagtctttcctggtgg	13	7	1	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:35399407G>T	uc010gfr.2	-	3	597	c.224C>A	c.(223-225)TCG>TAG	p.S75*	DSN1_uc002xfz.2_Nonsense_Mutation_p.S75*|DSN1_uc002xfy.3_Intron|DSN1_uc002xga.2_Nonsense_Mutation_p.S75*|DSN1_uc010zvs.1_Intron|DSN1_uc002xgc.2_Nonsense_Mutation_p.S59*|DSN1_uc002xgb.2_Nonsense_Mutation_p.S59*	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN	DSN1, MIND kinetochore complex component,	75					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			ovary(2)	2		Myeloproliferative disorder(115;0.00874)				AAGGGACTTCGACTGAAGTCT	0.483													T	35399407	G	T	35399407	4	4	249	1	0	0	0	0	0	1	0	0	4780	1059	37	5	882	5	DSN1	20	35399407	Nonsense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	14078018	35399407	27626113	113	123918											
KCNB1	3745	broad.mit.edu	37	chr20	48098751	48098751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggaggtgaaggcgccCgggtggcggtcaaagaagta	19	6	1	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:48098751C>T	uc002xur.1	-	1	431	c.267G>A	c.(265-267)CCG>CCA	p.P89P	KCNB1_uc002xus.1_Silent_p.P89P	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	89	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAAGGCGCCCGGGTGGCGGT	0.612													T	48098751	C	T	48098751	2	4	249	1	0	0	0	0	0	0	0	1	8012	639	23	1		1	KCNB1	20	48098751	Silent	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	12699344	48098751	14926769	114	123919											
APCDD1L	164284	broad.mit.edu	37	chr20	57042265	57042265	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagctcctccaccagccggGgcgacgcccggggctgcggc	15	18	0	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:57042265G>C	uc002xze.1	-	3	824	c.638C>G	c.(637-639)CCC>CGC	p.P213R	APCDD1L_uc010zzp.1_Missense_Mutation_p.P224R	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	213						integral to membrane				ovary(1)	1	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)			CACCAGCCGGGGCGACGCCCG	0.751													C	57042265	G	C	57042265	3	2	249	1	0	0	0	0	1	0	0	0	766	1232	43	5	875	5	APCDD1L	20	57042265	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	8943514	57042265	5983255	115	123920											
DIDO1	11083	broad.mit.edu	37	chr20	61537350	61537350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaagctgcttccttccCgagtgcttcactccgcgcag	8	17	2	0	rs115842710	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:61537350C>T	uc002ydr.1	-	6	1741	c.1477G>A	c.(1477-1479)GGG>AGG	p.G493R	DIDO1_uc002yds.1_Missense_Mutation_p.G493R|DIDO1_uc002ydt.1_Missense_Mutation_p.G493R|DIDO1_uc002ydu.1_Missense_Mutation_p.G493R|DIDO1_uc002ydv.1_Missense_Mutation_p.G493R|DIDO1_uc002ydw.1_Missense_Mutation_p.G493R|DIDO1_uc002ydx.1_Missense_Mutation_p.G493R|DIDO1_uc011aao.1_Missense_Mutation_p.G493R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	493					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GCTTCCTTCCCGAGTGCTTCA	0.527													T	61537350	C	T	61537350	3	4	249	1	0	0	0	0	1	0	0	0	4522	652	23	1	5419	1	DIDO1	20	61537350	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	4495085	61537350	1488170	116	123921											
CHRNA4	1137	broad.mit.edu	37	chr20	61981969	61981969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacactcggagggcaggtagAagaccagcacggtgaggcag	16	10	0	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:61981969A>G	uc002yes.2	-	5	972	c.794T>C	c.(793-795)TTC>TCC	p.F265S	CHRNA4_uc002yet.1_Missense_Mutation_p.F89S|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.F194S|CHRNA4_uc002yev.1_Missense_Mutation_p.F89S|CHRNA4_uc010gkf.1_Missense_Mutation_p.F89S	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	265	Helical; (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGCAGGTAGAAGACCAGCAC	0.597													G	61981969	A	G	61981969	3	3	249	1	0	0	0	0	1	0	0	0	3385	246	9	3	1097	3	CHRNA4	20	61981969	Missense_Mutation	SNP	A	TCGA-FP-A4BF-01A-12D-A24D-08	444619	61981969	1043551	117	123922											
TIAM1	7074	broad.mit.edu	37	chr21	32493030	32493030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccatcggtcagtgtcccCaccaccggggggctgctggg	14	15	1	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr21:32493030C>T	uc002yow.1	-	29	4904	c.4432G>A	c.(4432-4434)GGG>AGG	p.G1478R	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.G1418R	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1478					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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCAGTGTCCCCACCACCGGGG	0.562													T	32493030	C	T	32493030	3	4	249	1	0	0	0	0	1	0	0	0	15887	594	21	4	347	4	TIAM1	21	32493030	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08		32493030	15636865	118	123923											
KDM6A	7403	broad.mit.edu	37	chrX	44733193	44733193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctttgggttcgtgagatTtcatgaagatggcgccagga	13	8	2	3			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:44733193T>C	uc004dge.3	+	2	560	c.185T>C	c.(184-186)TTT>TCT	p.F62S	KDM6A_uc010nhk.2_Missense_Mutation_p.F62S|KDM6A_uc011mkz.1_Missense_Mutation_p.F62S|KDM6A_uc011mla.1_Missense_Mutation_p.F62S|KDM6A_uc011mlb.1_Missense_Mutation_p.F62S|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	62					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(8)|p.0?(6)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TTCGTGAGATTTCATGAAGAT	0.567			D|N|F|S		renal|oesophageal SCC|MM								C	44733193	T	C	44733193	3	2	249	1	0	0	0	0	1	0	0	0	8137	1841	64	3	191	3	KDM6A	23	44733193	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08		44733193	110537367	119	123924											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632528	102632528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcctgcaggaaatcgaCggggacaggctcgccgactt	13	13	0	0			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:102632528C>T	uc004eki.2	+	3	491	c.109C>T	c.(109-111)CGG>TGG	p.R37W	NGFRAP1_uc004ekh.2_Missense_Mutation_p.R27W|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R37W	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	37					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						AGGAAATCGACGGGGACAGGC	0.522													T	102632528	C	T	102632528	3	4	249	1	0	0	0	0	1	0	0	0	10397	527	19	1	111	1	NGFRAP1	23	102632528	Missense_Mutation	SNP	C	TCGA-FP-A4BF-01A-12D-A24D-08	57899335	102632528	52638032	120	123925											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686062	125686062	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatccagggagggcagctggTagatggccaggctgttgggg	20	7	0	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:125686062T>A	uc004eul.2	-	1	781	c.530A>T	c.(529-531)TAC>TTC	p.Y177F		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	177	WD 1.									skin(3)|ovary(1)	4						GGGCAGCTGGTAGATGGCCAG	0.657													A	125686062	T	A	125686062	3	1	249	1	0	0	0	0	1	0	0	0	4264	1638	57	5	865	5	DCAF12L1	23	125686062	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	23053534	125686062	29584498	121	123926											
GPR101	83550	broad.mit.edu	37	chrX	136113307	136113307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagagagcattgcgctcaTcaaaggcagcctggccccag	12	13	2	1			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:136113307T>C	uc011mwh.1	-	1	527	c.527A>G	c.(526-528)GAT>GGT	p.D176G		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	176	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					ATTGCGCTCATCAAAGGCAGC	0.577													C	136113307	T	C	136113307	3	2	249	1	0	0	0	0	1	0	0	0	6622	1435	50	3	1002	3	GPR101	23	136113307	Missense_Mutation	SNP	T	TCGA-FP-A4BF-01A-12D-A24D-08	10427245	136113307	19157253	122	123927											
MTMR1	8776	broad.mit.edu	37	chrX	149905164	149905164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatgcgagagtcactacGcaaattaaaagagattgtgt	10	6	2	2			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:149905164G>A	uc004fei.2	+	10	1289	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	MTMR1_uc011mya.1_Missense_Mutation_p.R291H|MTMR1_uc004feh.1_Missense_Mutation_p.R393H|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	385	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCACTACGCAAATTAAAA	0.453													A	149905164	G	A	149905164	3	1	249	1	0	0	0	0	1	0	0	0	9938	1087	38	1	1192	1	MTMR1	23	149905164	Missense_Mutation	SNP	G	TCGA-FP-A4BF-01A-12D-A24D-08	13791857	149905164	5365396	123	123928											
NOC2L	26155	broad.mit.edu	37	chr1	892322	892322	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcgacggtcacaggaacAgaattcttcttccccttcag	9	12	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:892322A>C	uc001abz.3	-	4	497	c.438T>G	c.(436-438)TCT>TCG	p.S146S	NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Silent_p.S146S	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	146						nucleolus	protein binding			ovary(1)|skin(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;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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCACAGGAACAGAATTCTTCT	0.597													C	892322	A	C	892322	2	2	250	1	0	0	0	0	0	0	0	1	10513	175	7	5		5	NOC2L	1	892322	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08		892322	248358299	1	123929											
ATAD3C	219293	broad.mit.edu	37	chr1	1390849	1390849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctccagcaggtcagcCggcggctcctcagtcgaccc	10	19	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:1390849C>T	uc001aft.2	+	5	1383	c.388C>T	c.(388-390)CGG>TGG	p.R130W		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	130							ATP binding|nucleoside-triphosphatase activity				0	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)		GCAGGTCAGCCGGCGGCTCCT	0.652													T	1390849	C	T	1390849	3	4	250	1	0	0	0	0	1	0	0	0	1075	643	23	1	406	1	ATAD3C	1	1390849	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	498527	1390849	247859772	2	123930											
SKI	6497	broad.mit.edu	37	chr1	2235472	2235472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagccccagagacgctgGcgcccgtggctgccccagag	15	16	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:2235472G>A	uc001aja.3	+	4	1477	c.1405G>A	c.(1405-1407)GCG>ACG	p.A469T		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	469					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			lung(1)|central_nervous_system(1)	2	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)		AGAGACGCTGGCGCCCGTGGC	0.672													A	2235472	G	A	2235472	3	1	250	1	0	0	0	0	1	0	0	0	14357	1203	42	2	1419	2	SKI	1	2235472	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	844623	2235472	247015149	3	123931											
CAMTA1	23261	broad.mit.edu	37	chr1	7792623	7792623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcggcagcagtggaggCggcagcgggagcgggaatgg	24	7	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:7792623C>T	uc001aoi.2	+	12	3237	c.3030C>T	c.(3028-3030)GGC>GGT	p.G1010G	CAMTA1_uc010nzv.1_Silent_p.G97G|CAMTA1_uc001aok.3_Silent_p.G53G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		GCAGTGGAGGCGGCAGCGGGA	0.627													T	7792623	C	T	7792623	2	4	250	1	0	0	0	0	0	0	0	1	2613	755	27	1		1	CAMTA1	1	7792623	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5557151	7792623	241457998	4	123932											
TMEM201	199953	broad.mit.edu	37	chr1	9661216	9661216	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatcctgctccgtgccctCgccttcctggcctgcgcctt	9	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:9661216C>T	uc001apz.2	+	5	672	c.660C>T	c.(658-660)CTC>CTT	p.L220L	TMEM201_uc001apy.2_Silent_p.L220L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	220	Helical; (Potential).					integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|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)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCCGTGCCCTCGCCTTCCTGG	0.662													T	9661216	C	T	9661216	2	4	250	1	0	0	0	0	0	0	0	1	16123	871	31	1		1	TMEM201	1	9661216	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1868593	9661216	239589405	5	123933											
CLSTN1	22883	broad.mit.edu	37	chr1	9793524	9793524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgagcttaaacttccGgtcaagcaaggacctggcat	11	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:9793524G>A	uc001aqh.2	-	16	3121	c.2362C>T	c.(2362-2364)CGG>TGG	p.R788W	CLSTN1_uc001aqi.2_Missense_Mutation_p.R778W|CLSTN1_uc010oag.1_Missense_Mutation_p.R769W|CLSTN1_uc001aqf.2_Missense_Mutation_p.R24W	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	788	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTAAACTTCCGGTCAAGCAAG	0.562													A	9793524	G	A	9793524	3	1	250	1	0	0	0	0	1	0	0	0	3561	1115	39	1	599	1	CLSTN1	1	9793524	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	132308	9793524	239457097	6	123934											
UBE4B	10277	broad.mit.edu	37	chr1	10132092	10132092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcatgttgtagattcgaCggaggcgccttgcacgactt	11	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:10132092C>T	uc001aqs.3	+	2	744	c.31C>T	c.(31-33)CGG>TGG	p.R11W	UBE4B_uc001aqr.3_Missense_Mutation_p.R11W|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Translation_Start_Site	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	11					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		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)		GTAGATTCGACGGAGGCGCCT	0.522													T	10132092	C	T	10132092	3	4	250	1	0	0	0	0	1	0	0	0	16880	527	19	1	37	1	UBE4B	1	10132092	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	338568	10132092	239118529	7	123935											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835720	12835720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgttggacttgcggaatGtggatgagaacttctggggc	16	5	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:12835720G>A	uc001aui.2	+	2	349	c.322G>A	c.(322-324)GTG>ATG	p.V108M		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	108										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		CTTGCGGAATGTGGATGAGAA	0.522													A	12835720	G	A	12835720	3	1	250	1	0	0	0	0	1	0	0	0	12428	1377	48	4	328	4	PRAMEF12	1	12835720	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2703628	12835720	236414901	8	123936											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809705	18809705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcagactctgtctcacccAggtttgtgcccaaggagctg	11	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:18809705A>G	uc001bax.2	+	1	2282	c.2230A>G	c.(2230-2232)AGG>GGG	p.R744G	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R526G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	744						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		TGTCTCACCCAGGTTTGTGCC	0.652													G	18809705	A	G	18809705	3	3	250	1	0	0	0	0	1	0	0	0	8360	179	7	3	2232	3	KLHDC7A	1	18809705	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	5973985	18809705	230440916	9	123937											
NBL1	4681	broad.mit.edu	37	chr1	19981835	19981835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcgtgcctaggacagtgCttcagctacagcgtccccaa	12	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:19981835C>T	uc001bck.1	+	3	341	c.186C>T	c.(184-186)TGC>TGT	p.C62C	NBL1_uc009vpl.1_Silent_p.C63C|NBL1_uc001bcj.1_Silent_p.C98C|NBL1_uc009vpm.1_Silent_p.C63C	NM_005380	NP_005371	P41271	NBL1_HUMAN	neuroblastoma, suppression of tumorigenicity 1 2	62	CTCK.					extracellular region				ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAGGACAGTGCTTCAGCTACA	0.602													T	19981835	C	T	19981835	2	4	250	1	0	0	0	0	0	0	0	1	10190	805	28	2		2	NBL1	1	19981835	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1172130	19981835	229268786	10	123938											
USP48	84196	broad.mit.edu	37	chr1	22016488	22016488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaataaaatgacagattcAggaatgacgccaagggtgcc	10	8	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:22016488A>G	uc001bfb.2	-	24	3226	c.2988T>C	c.(2986-2988)CCT>CCC	p.P996P	USP48_uc001bfa.2_Silent_p.P482P|USP48_uc010odq.1_Silent_p.P1008P|USP48_uc009vqc.2_Silent_p.P930P|USP48_uc001bfc.2_Silent_p.P944P|USP48_uc001bfd.1_Silent_p.P121P	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	996	Ubiquitin-like.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		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)		TGACAGATTCAGGAATGACGC	0.393													G	22016488	A	G	22016488	2	3	250	1	0	0	0	0	0	0	0	1	17076	175	7	3		3	USP48	1	22016488	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2034653	22016488	227234133	11	123939											
ZBTB40	9923	broad.mit.edu	37	chr1	22817981	22817982	+	Frame_Shift_Ins	INS	-	-	A													tggttacccaggatgttttaINSaaaaaactagaaatgtgttc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:22817980_22817981T>TA	uc001bft.2	+	3	1296_1297	c.785_786T>TA	c.(784-786)ttafs	p.L262fs	ZBTB40_uc001bfu.2_Frame_Shift_Ins_p.L262fs|ZBTB40_uc009vqi.1_Frame_Shift_Ins_p.L262fs	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	262					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)		CAGGATGTTTTAAAAAAACTAG	0.381													A	22817982	-	A	22817981	7	5	250	1	0	1	1	0	0	0	0	0	17539	359	13	0	792	0	ZBTB40	1	22817981	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	801493	22817981	226432640	12	123940											
EPHA8	2046	broad.mit.edu	37	chr1	22923860	22923860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaaagctcccagagccCcagttctatgcggaacccca	10	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:22923860C>T	uc001bfx.1	+	10	1946	c.1821C>T	c.(1819-1821)CCC>CCT	p.P607P		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	607	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		TCCCAGAGCCCCAGTTCTATG	0.642													T	22923860	C	T	22923860	2	4	250	1	0	0	0	0	0	0	0	1	5173	610	22	4		4	EPHA8	1	22923860	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	105879	22923860	226326761	13	123941											
EPHB2	2048	broad.mit.edu	37	chr1	23240030	23240030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatccaggtgatgcgggcGcagatgaaccagattcagtc	13	9	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:23240030G>A	uc009vqj.1	+	16	3073	c.2928G>A	c.(2926-2928)GCG>GCA	p.A976A	EPHB2_uc001bge.2_Silent_p.A977A|EPHB2_uc001bgf.2_Silent_p.A976A|EPHB2_uc010odu.1_Silent_p.A918A	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	976	Cytoplasmic (Potential).|SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		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)		TGATGCGGGCGCAGATGAACC	0.582									Hereditary_Prostate_Cancer				A	23240030	G	A	23240030	2	1	250	1	0	0	0	0	0	0	0	1	5175	1074	38	1		1	EPHB2	1	23240030	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	316170	23240030	226010591	14	123942											
C1orf201	90529	broad.mit.edu	37	chr1	24685105	24685105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaagctctggcttgtaCgtagctgtgaggggacagag	16	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:24685105C>T	uc001bjc.2	-	9	1068	c.933G>A	c.(931-933)ACG>ACA	p.T311T	C1orf201_uc010oej.1_Missense_Mutation_p.V98I|C1orf201_uc001bja.2_Silent_p.T264T|C1orf201_uc001bjb.2_Silent_p.T219T|C1orf201_uc001bjd.2_Silent_p.T311T			Q5TH74	CA201_HUMAN	RecName: Full=UPF0490 protein C1orf201;	311										ovary(1)|breast(1)	2		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		CTGGCTTGTACGTAGCTGTGA	0.458													T	24685105	C	T	24685105	2	4	250	1	0	0	0	0	0	0	0	1	2027	523	19	1		1	C1orf201	1	24685105	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1445075	24685105	224565516	15	123943											
PDIK1L	149420	broad.mit.edu	37	chr1	26448379	26448381	+	In_Frame_Del	DEL	TAT	TAT	-													cctttgatcccagaagcgccTattatttgtggtttgtgatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:26448378_26448380CTAT>C	uc010oew.2	+	2	609_611	c.336_338CTAT>C	c.(334-339)gcctat>gcCt	p.Y114del	PDIK1L_uc001blj.4_In_Frame_Del_p.Y114del|PDIK1L_uc009vsb.3_In_Frame_Del_p.Y114del	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	114	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|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;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGCGCCTATTATTTGTGG	0.365													-	26448381	TAT	-	26448379	7	5	250	1	0	1	0	1	0	0	0	0	11673	1522	53	0	343	0	PDIK1L	1	26448379	In_Frame_Del	DEL	TAT	TCGA-HF-7132-01A-11D-2053-08	1763274	26448379	222802242	16	123944											
CNKSR1	10256	broad.mit.edu	37	chr1	26514778	26514779	+	Frame_Shift_Ins	INS	-	-	C													taccagtctccaggccgggcINSccccccaccccgagaggaag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:26514777_26514778G>GC	uc001bln.4	+	16	1586_1587	c.1528_1529G>GC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_uc001blm.4_Frame_Shift_Ins_p.A503fs|CNKSR1_uc009vsd.3_Frame_Shift_Ins_p.A245fs|CNKSR1_uc009vse.3_Frame_Shift_Ins_p.A245fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	510					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.A503T(1)		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)		TCCAGGCCGGGCCCCCCCACCC	0.604													C	26514779	-	C	26514778	7	5	250	1	0	1	1	0	0	0	0	0	3606	739	26	0	1574	0	CNKSR1	1	26514778	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	66399	26514778	222735843	17	123945											
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-													atgtattctcctagccgctaCcccccgcagcagcagcagca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(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)		CCTAGCCGCTACCCCCCgcag	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27100176	C	-	27100176	7	5	250	1	0	1	0	1	0	0	0	0	913	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	585398	27100176	222150445	18	123946											
ZDHHC18	84243	broad.mit.edu	37	chr1	27179250	27179250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgcttgcagatcaaaGgctcgtggtccagcaagagg	12	11	1	2	rs35264488		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27179250G>T	uc001bnb.2	+	7	1038	c.943G>T	c.(943-945)GGC>TGC	p.G315C		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	315						integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|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)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GCAGATCAAAGGCTCGTGGTC	0.547											OREG0013274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	27179250	G	T	27179250	3	4	250	1	0	0	0	0	1	0	0	0	17605	1000	35	5	969	5	ZDHHC18	1	27179250	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	79074	27179250	222071371	19	123947											
NUDC	10726	broad.mit.edu	37	chr1	27269429	27269429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggacatccagcggcGgcacctccgggtggggctca	18	12	1	0	rs148845287	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27269429G>A	uc001bng.1	+	6	730	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	NUDC_uc001bnh.1_Missense_Mutation_p.R262Q|NUDC_uc009vsq.1_Missense_Mutation_p.R179Q	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	nuclear distribution gene C homolog	205	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			ovary(1)	1				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)		ATCCAGCGGCGGCACCTCCGG	0.607													A	27269429	G	A	27269429	3	1	250	1	0	0	0	0	1	0	0	0	10721	1116	39	1	636	1	NUDC	1	27269429	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	90179	27269429	221981192	20	123948											
SLC9A1	6548	broad.mit.edu	37	chr1	27426886	27426886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgtatcctctgggagCtggggctgtcactgggcgcg	17	11	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:27426886C>A	uc001bnm.2	-	12	2986	c.2360G>T	c.(2359-2361)AGC>ATC	p.S787I	SLC9A1_uc001bnl.2_Missense_Mutation_p.S291I|SLC9A1_uc010ofk.1_Missense_Mutation_p.S448I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	787	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				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)	CCTCTGGGAGCTGGGGCTGTC	0.647													A	27426886	C	A	27426886	3	1	250	1	0	0	0	0	1	0	0	0	14709	797	28	5	91	5	SLC9A1	1	27426886	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	157457	27426886	221823735	21	123949											
EPB41	2035	broad.mit.edu	37	chr1	29379779	29379779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagtgaaaaaggaagaCgagccacctgagcaagctga	13	8	0	5	rs139530083		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:29379779C>T	uc001brm.1	+	11	1807	c.1800C>T	c.(1798-1800)GAC>GAT	p.D600D	EPB41_uc001brg.1_Silent_p.D391D|EPB41_uc001brh.1_Silent_p.D391D|EPB41_uc001bri.1_Silent_p.D565D|EPB41_uc001brj.1_Silent_p.D391D|EPB41_uc009vtk.1_Silent_p.D564D|EPB41_uc001brk.2_Silent_p.D600D|EPB41_uc001brl.1_Silent_p.D600D|EPB41_uc009vtl.1_Silent_p.D391D|EPB41_uc009vtm.1_Silent_p.D233D	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	600	Hydrophilic.				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			ovary(1)	1		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)		AAAAGGAAGACGAGCCACCTG	0.478													T	29379779	C	T	29379779	2	4	250	1	0	0	0	0	0	0	0	1	5151	535	19	1		1	EPB41	1	29379779	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1952893	29379779	219870842	22	123950											
PTPRU	10076	broad.mit.edu	37	chr1	29585071	29585071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccagcgagcccatgTcatcttccagagcctgagcg	11	16	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:29585071T>C	uc001bru.2	+	3	370	c.260T>C	c.(259-261)GTC>GCC	p.V87A	PTPRU_uc001brv.2_Missense_Mutation_p.V87A|PTPRU_uc001brw.2_Missense_Mutation_p.V87A|PTPRU_uc009vtq.2_Missense_Mutation_p.V87A|PTPRU_uc009vtr.2_Missense_Mutation_p.V87A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	87	Extracellular (Potential).|MAM.				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		CGAGCCCATGTCATCTTCCAG	0.602													C	29585071	T	C	29585071	3	2	250	1	0	0	0	0	1	0	0	0	12813	1667	58	3	270	3	PTPRU	1	29585071	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	205292	29585071	219665550	23	123951											
HPCA	3208	broad.mit.edu	37	chr1	33354832	33354832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcatgtatgacctggaCggcaacggctacatcagccg	11	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:33354832C>T	uc001bwh.2	+	2	373	c.333C>T	c.(331-333)GAC>GAT	p.D111D		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	111	EF-hand 3.|2 (Potential).						actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATGACCTGGACGGCAACGGCT	0.602													T	33354832	C	T	33354832	2	4	250	1	0	0	0	0	0	0	0	1	7329	535	19	1		1	HPCA	1	33354832	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3769761	33354832	215895789	24	123952											
CSMD2	114784	broad.mit.edu	37	chr1	33998768	33998768	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagcgtgtagcccatggaGggcaaatccagggccccgac	14	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:33998768G>T	uc001bxn.1	-	63	9650	c.9621C>A	c.(9619-9621)CCC>CCA	p.P3207P	CSMD2_uc001bxm.1_Silent_p.P3351P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3207	Sushi 26.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCCATGGAGGGCAAATCCA	0.627													T	33998768	G	T	33998768	2	4	250	1	0	0	0	0	0	0	0	1	3945	987	35	5		5	CSMD2	1	33998768	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	643936	33998768	215251853	25	123953											
CSMD2	114784	broad.mit.edu	37	chr1	34166207	34166207	+	Frame_Shift_Del	DEL	C	C	-													ggatgtgctgttcaaagtcaCccccatcatctcagaatggc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:34166206_34166206AC>A	uc001bxm.1	-	22	3821	c.3644_3644GT>T	c.(3643-3645)gtgfs	p.V1215fs	CSMD2_uc001bxn.1_Frame_Shift_Del_p.V1175fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.V88fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1175	Sushi 7.					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)				GTTCAAAGTCACCCCCATCAT	0.488													-	34166207	C	-	34166207	7	5	250	1	0	1	0	1	0	0	0	0	3945	507	18	0	7128	0	CSMD2	1	34166207	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	167439	34166207	215084414	26	123954											
DLGAP3	58512	broad.mit.edu	37	chr1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-													ccttgccaccggtggggtaaCccccccagtcatcttgcggc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					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)				CGGTGGGGTAACCCCCCCAGT	0.607													-	35365852	C	-	35365852	7	5	250	1	0	1	0	1	0	0	0	0	4561	507	18	0	1845	0	DLGAP3	1	35365852	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	1199645	35365852	213884769	27	123955											
EIF2C1	26523	broad.mit.edu	37	chr1	36381048	36381048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacttgtcctacatggtgCgtgagctcctcatccaattc	8	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:36381048C>T	uc001bzl.2	+	15	2146	c.1933C>T	c.(1933-1935)CGT>TGT	p.R645C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R570C|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	645	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACATGGTGCGTGAGCTCCT	0.562													T	36381048	C	T	36381048	3	4	250	1	0	0	0	0	1	0	0	0	5005	768	27	1	1991	1	EIF2C1	1	36381048	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1015196	36381048	212869573	28	123956											
EIF2C1	26523	broad.mit.edu	37	chr1	36384702	36384702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctttgggatgacaaccGtttcacagcagatgagctcc	10	10	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:36384702G>A	uc001bzl.2	+	18	2525	c.2312G>A	c.(2311-2313)CGT>CAT	p.R771H	EIF2C1_uc001bzk.2_Missense_Mutation_p.R696H|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	771	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATGACAACCGTTTCACAGCA	0.547													A	36384702	G	A	36384702	3	1	250	1	0	0	0	0	1	0	0	0	5005	1145	40	1	2382	1	EIF2C1	1	36384702	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3654	36384702	212865919	29	123957											
EPHA10	284656	broad.mit.edu	37	chr1	38185131	38185131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggggctctgggtcctgcAccatcttgctcaggatgctg	15	11	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:38185131A>G	uc009vvi.2	-	15	2797	c.2711T>C	c.(2710-2712)GTG>GCG	p.V904A	EPHA10_uc001cbt.2_Intron|EPHA10_uc009vvh.1_Intron|EPHA10_uc001cbu.2_Intron|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	904	Cytoplasmic (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGGTCCTGCACCATCTTGCT	0.617													G	38185131	A	G	38185131	3	3	250	1	0	0	0	0	1	0	0	0	5166	159	6	3	327	3	EPHA10	1	38185131	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1800429	38185131	211065490	30	123958											
EPHA10	284656	broad.mit.edu	37	chr1	38197252	38197252	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagtctgctcactctgAccctggagagagatcaagaa	11	9	4	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:38197252A>G	uc009vvi.2	-	7	1580	c.1494T>C	c.(1492-1494)GGT>GGC	p.G498G	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	498	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCACTCTGACCCTGGAGAG	0.582													G	38197252	A	G	38197252	2	3	250	1	0	0	0	0	0	0	0	1	5166	262	10	3		3	EPHA10	1	38197252	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	12121	38197252	211053369	31	123959											
PPT1	5538	broad.mit.edu	37	chr1	40557020	40557020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgatgttgtcccccaacCgagatcagattgatcatggg	10	11	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40557020C>T	uc001cfb.2	-	4	646	c.414G>A	c.(412-414)TCG>TCA	p.S138S	PPT1_uc010ojf.1_Silent_p.S88S|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	138					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCCCCCAACCGAGATCAGAT	0.423													T	40557020	C	T	40557020	2	4	250	1	0	0	0	0	0	0	0	1	12411	639	23	1		1	PPT1	1	40557020	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2359768	40557020	208693601	32	123960											
PPT1	5538	broad.mit.edu	37	chr1	40557753	40557753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagaatcccatagcattgTagccttgctgcaatttagga	11	8	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40557753T>C	uc001cfb.2	-	3	558	c.326A>G	c.(325-327)TAC>TGC	p.Y109C	PPT1_uc010ojf.1_Missense_Mutation_p.Y59C|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	109			Y -> D (in CLN1).		brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATAGCATTGTAGCCTTGCTG	0.388													C	40557753	T	C	40557753	3	2	250	1	0	0	0	0	1	0	0	0	12411	1638	57	3	622	3	PPT1	1	40557753	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	733	40557753	208692868	33	123961											
RLF	6018	broad.mit.edu	37	chr1	40702683	40702683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaagcatgacgatctgcGttacaaatgtgaattaaatg	8	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40702683G>A	uc001cfc.3	+	8	2340	c.2309G>A	c.(2308-2310)CGT>CAT	p.R770H	RLF_uc001cfd.3_Missense_Mutation_p.R461H	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	770					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			ovary(2)|pancreas(1)	3	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)			GACGATCTGCGTTACAAATGT	0.388													A	40702683	G	A	40702683	3	1	250	1	0	0	0	0	1	0	0	0	13389	1145	40	1	2339	1	RLF	1	40702683	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	144930	40702683	208547938	34	123962											
TMCO2	127391	broad.mit.edu	37	chr1	40717165	40717165	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagaagggataatcgttgctCaaaaacctgccacgaagagg	11	8	1	2	rs79139067		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:40717165C>T	uc001cfe.2	+	2	541	c.448C>T	c.(448-450)CAA>TAA	p.Q150*		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	150	Potential.					integral to membrane				ovary(1)	1	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)			AATCGTTGCTCAAAAACCTGC	0.443													T	40717165	C	T	40717165	4	4	250	1	0	0	0	0	0	1	0	0	15993	827	29	4	454	4	TMCO2	1	40717165	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	14482	40717165	208533456	35	123963											
PPCS	79717	broad.mit.edu	37	chr1	42922652	42922652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagctaccaggaggctgCggctgcaggcaccttcctgg	16	12	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:42922652C>T	uc001chl.2	+	1	480	c.416C>T	c.(415-417)GCG>GTG	p.A139V	ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	139					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGGAGGCTGCGGCTGCAGGC	0.627													T	42922652	C	T	42922652	3	4	250	1	0	0	0	0	1	0	0	0	12305	768	27	1	418	1	PPCS	1	42922652	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2205487	42922652	206327969	36	123964											
HYI	81888	broad.mit.edu	37	chr1	43919088	43919088	+	Frame_Shift_Del	DEL	C	C	-													cagggctttggcataccgcaCggcctgctccagtccctctc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:43919088delC	uc001cjo.2	-	2	450	c.280delG	c.(280-282)GTGfs	p.V94fs	HYI_uc001cjm.2_Frame_Shift_Del_p.V21fs|HYI_uc001cjn.2_Frame_Shift_Del_p.V94fs|HYI_uc001cjp.2_Frame_Shift_Del_p.V21fs	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	94							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCATACCGCACGGCCTGCTCC	0.677													-	43919088	C	-	43919088	7	5	250	1	0	1	0	1	0	0	0	0	7468	536	19	0	581	0	HYI	1	43919088	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	996436	43919088	205331533	37	123965											
PTPRF	5792	broad.mit.edu	37	chr1	44035429	44035429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccacgagcaacggccGcatcaagcagctgcgttcag	11	16	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:44035429G>A	uc001cjr.2	+	6	888	c.548G>A	c.(547-549)CGC>CAC	p.R183H	PTPRF_uc001cjq.3_Missense_Mutation_p.R183H|PTPRF_uc001cjs.2_Missense_Mutation_p.R183H|PTPRF_uc001cjt.3_Missense_Mutation_p.R183H	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	183	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCAACGGCCGCATCAAGCAG	0.587													A	44035429	G	A	44035429	3	1	250	1	0	0	0	0	1	0	0	0	12801	1087	38	1	562	1	PTPRF	1	44035429	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	116341	44035429	205215192	38	123966											
NRD1	4898	broad.mit.edu	37	chr1	52293532	52293532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagtgggtggatgaagaaCtgcgcccatctgaacaaaaa	11	7	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:52293532C>T	uc001ctc.3	-	7	1402	c.1080G>A	c.(1078-1080)CAG>CAA	p.Q360Q	NRD1_uc009vzb.2_Silent_p.Q55Q|NRD1_uc001ctd.3_Silent_p.Q292Q|NRD1_uc001cte.2_Silent_p.Q228Q|NRD1_uc001ctf.2_Silent_p.Q292Q|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.Q160Q	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	291					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				0						GGATGAAGAACTGCGCCCATC	0.353													T	52293532	C	T	52293532	2	4	250	1	0	0	0	0	0	0	0	1	10645	564	20	4		4	NRD1	1	52293532	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	8258103	52293532	196957089	39	123967											
ORC1L	4998	broad.mit.edu	37	chr1	52862005	52862005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatttttcagattcgtcGgtaccacatcctttggggct	8	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:52862005G>A	uc001ctt.2	-	5	653	c.434C>T	c.(433-435)CCG>CTG	p.P145L	ORC1L_uc010oni.1_Missense_Mutation_p.P145L|ORC1L_uc001ctu.2_Missense_Mutation_p.P145L|ORC1L_uc009vzd.2_5'UTR	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	145	BAH.				cell cycle checkpoint|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	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						CAGATTCGTCGGTACCACATC	0.413													A	52862005	G	A	52862005	3	1	250	1	0	0	0	0	1	0	0	0	11261	1116	39	1	2203	1	ORC1L	1	52862005	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	568473	52862005	196388616	40	123968											
LRP8	7804	broad.mit.edu	37	chr1	53729922	53729922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcggccaccatcaactGtggccactgagatggtctta	12	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:53729922G>A	uc001cvi.1	-	10	1716	c.1574C>T	c.(1573-1575)ACA>ATA	p.T525I	LRP8_uc001cvh.1_Missense_Mutation_p.T78I|LRP8_uc001cvk.1_Missense_Mutation_p.T355I|LRP8_uc001cvj.1_Missense_Mutation_p.T525I|LRP8_uc001cvl.1_Missense_Mutation_p.T396I|LRP8_uc001cvm.1_Missense_Mutation_p.T110I	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	525	LDL-receptor class B 2.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						ACCATCAACTGTGGCCACTGA	0.592													A	53729922	G	A	53729922	3	1	250	1	0	0	0	0	1	0	0	0	8963	1377	48	4	1357	4	LRP8	1	53729922	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	867917	53729922	195520699	41	123969											
CYB5RL	606495	broad.mit.edu	37	chr1	54649860	54649860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttatagaagaaatctcCgaaaggtcctcgccagaaag	10	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:54649860C>T	uc009vzo.2	-	6	834	c.514G>A	c.(514-516)GGA>AGA	p.G172R	CYB5RL_uc001cww.2_5'UTR|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Missense_Mutation_p.G24R	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	172	FAD (By similarity).|FAD-binding FR-type.						cytochrome-b5 reductase activity				0						AAGAAATCTCCGAAAGGTCCT	0.502													T	54649860	C	T	54649860	3	4	250	1	0	0	0	0	1	0	0	0	4130	661	23	1	445	1	CYB5RL	1	54649860	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	919938	54649860	194600761	42	123970											
C1orf175	374977	broad.mit.edu	37	chr1	55151960	55151960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtgcgagctcctgtcCgtcaacagctgcatgggccg	14	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:55151960C>T	uc010ooe.1	+	15	2874	c.2550C>T	c.(2548-2550)TCC>TCT	p.S850S	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.S418S|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.S368S|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Silent_p.S850S|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.S52S|C1orf175_uc001cxu.2_5'UTR	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	850						integral to membrane	binding				0						AGCTCCTGTCCGTCAACAGCT	0.652													T	55151960	C	T	55151960	2	4	250	1	0	0	0	0	0	0	0	1	2016	639	23	1		1	C1orf175	1	55151960	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	502100	55151960	194098661	43	123971											
C1orf177	163747	broad.mit.edu	37	chr1	55272709	55272709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccaactggaagaagttcAgcaccttcactgaggcccca	8	14	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:55272709A>G	uc001cyb.3	+	2	199	c.145A>G	c.(145-147)AGC>GGC	p.S49G	C1orf177_uc001cya.3_Missense_Mutation_p.S49G	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	49											0						GAAGAAGTTCAGCACCTTCAC	0.597													G	55272709	A	G	55272709	3	3	250	1	0	0	0	0	1	0	0	0	2017	188	7	3	151	3	C1orf177	1	55272709	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	120749	55272709	193977912	44	123972											
CACHD1	57685	broad.mit.edu	37	chr1	65138880	65138880	+	Frame_Shift_Del	DEL	C	C	-													aggggttatctggtggcgcaCccgactctcatcgaccccaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:65138879_65138879AC>A	uc001dbo.1	+	17	2501	c.2396_2396AC>A	c.(2395-2397)cacfs	p.H799fs	CACHD1_uc001dbp.1_Frame_Shift_Del_p.H554fs|CACHD1_uc001dbq.1_Frame_Shift_Del_p.H554fs|CACHD1_uc010opa.1_Frame_Shift_Del_p.H43fs	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	850	Cache 2.				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						CTGGTGGCGCACCCGACTCTC	0.473													-	65138880	C	-	65138880	7	5	250	1	0	1	0	1	0	0	0	0	2537	506	18	0	2467	0	CACHD1	1	65138880	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	9866171	65138880	184111741	45	123973											
RAVER2	55225	broad.mit.edu	37	chr1	65272888	65272888	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatttatggtttgctacaGcatctagcctgattccaact	7	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:65272888G>A	uc001dbs.1	+	9	1451	c.1373_splice	c.e9-1	p.T458_splice	RAVER2_uc001dbt.1_Splice_Site_p.T350_splice|RAVER2_uc010opb.1_Intron	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2							cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						GTTTGCTACAGCATCTAGCCT	0.383													A	65272888	G	A	65272888	5	1	250	1	0	0	0	0	0	0	1	0	13095	985	34	2	1406	2	RAVER2	1	65272888	Splice_Site	SNP	G	TCGA-HF-7132-01A-11D-2053-08	134008	65272888	183977733	46	123974											
JAK1	3716	broad.mit.edu	37	chr1	65309880	65309880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactcaggagcaatccatGggattcgttcaatgcattct	8	11	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:65309880G>A	uc001dbu.1	-	17	2519	c.2270C>T	c.(2269-2271)CCA>CTA	p.P757L	JAK1_uc009wam.1_Missense_Mutation_p.P745L|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	757	Protein kinase 1.				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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGCAATCCATGGGATTCGTTC	0.498			Mis		ALL								A	65309880	G	A	65309880	3	1	250	1	0	0	0	0	1	0	0	0	7937	1348	47	4	1230	4	JAK1	1	65309880	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	36992	65309880	183940741	47	123975											
LEPR	3953	broad.mit.edu	37	chr1	66102113	66102113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggctgagggtactgaGgtaacctatgaggacgaaag	15	6	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:66102113G>T	uc001dci.2	+	20	3115	c.2913G>T	c.(2911-2913)GAG>GAT	p.E971D	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	971	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGGTACTGAGGTAACCTATG	0.438													T	66102113	G	T	66102113	3	4	250	1	0	0	0	0	1	0	0	0	8728	991	35	5	3213	5	LEPR	1	66102113	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	792233	66102113	183148508	48	123976											
IL23R	149233	broad.mit.edu	37	chr1	67685299	67685299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacatatgtgcaacagtcaGaattctacttggagccaaac	7	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:67685299G>T	uc001ddo.2	+	7	926	c.841G>T	c.(841-843)GAA>TAA	p.E281*	IL23R_uc009waz.2_Nonsense_Mutation_p.E78*|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_Intron|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Nonsense_Mutation_p.E238*|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Nonsense_Mutation_p.E27*|IL23R_uc010opn.1_Nonsense_Mutation_p.E126*|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Nonsense_Mutation_p.E140*|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Nonsense_Mutation_p.E140*|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Nonsense_Mutation_p.E78*|IL23R_uc010opt.1_Intron|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Intron|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Nonsense_Mutation_p.E78*|IL23R_uc010opz.1_5'UTR|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Nonsense_Mutation_p.E140*|IL23R_uc010oqc.1_Nonsense_Mutation_p.E27*|IL23R_uc010oqd.1_5'UTR|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_5'UTR|IL23R_uc001dds.2_Nonsense_Mutation_p.E26*|IL23R_uc001ddt.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	281	Extracellular (Potential).|Fibronectin type-III 2.				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				0						GCAACAGTCAGAATTCTACTT	0.333													T	67685299	G	T	67685299	4	4	250	1	0	0	0	0	0	1	0	0	7676	943	33	5	863	5	IL23R	1	67685299	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1583186	67685299	181565322	49	123977											
DEPDC1	55635	broad.mit.edu	37	chr1	68947138	68947138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaccagtgacctcgtaccCattgcatcatgaagtttggg	9	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:68947138C>A	uc001dem.3	-	9	2037	c.1920G>T	c.(1918-1920)ATG>ATT	p.M640I	DEPDC1_uc001dej.3_Missense_Mutation_p.M8I|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Missense_Mutation_p.M356I	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	640	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACCTCGTACCCATTGCATCAT	0.358													A	68947138	C	A	68947138	3	1	250	1	0	0	0	0	1	0	0	0	4439	594	21	5	531	5	DEPDC1	1	68947138	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1261839	68947138	180303483	50	123978											
DEPDC1	55635	broad.mit.edu	37	chr1	68948470	68948470	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaaggcactcagttgAtttgaaggaattcaaattgt	11	4	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:68948470A>T	uc001dem.3	-	8	1138	c.1021T>A	c.(1021-1023)TCA>ACA	p.S341T	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	341					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTCAGTTGATTTGAAGGAA	0.353													T	68948470	A	T	68948470	3	4	250	1	0	0	0	0	1	0	0	0	4439	333	12	5	1434	5	DEPDC1	1	68948470	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1332	68948470	180302151	51	123979											
PTGER3	5733	broad.mit.edu	37	chr1	71512610	71512610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcgaagagctagtcccGttgccccctcgcccggtgct	11	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:71512610G>T	uc001dfg.1	-	1	882	c.651C>A	c.(649-651)AAC>AAA	p.N217K	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.N217K|PTGER3_uc001dfl.1_Missense_Mutation_p.N217K|PTGER3_uc009wbm.1_Missense_Mutation_p.N217K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.N217K|PTGER3_uc009wbn.1_Missense_Mutation_p.N217K|PTGER3_uc009wbo.2_Missense_Mutation_p.N217K|PTGER3_uc001dfo.2_Missense_Mutation_p.N217K|PTGER3_uc001dfp.1_Missense_Mutation_p.N217K|PTGER3_uc001dfq.2_Missense_Mutation_p.N217K|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	217	Extracellular (Potential).				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			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	AGCTAGTCCCGTTGCCCCCTC	0.647													T	71512610	G	T	71512610	3	4	250	1	0	0	0	0	1	0	0	0	12744	1136	40	5	840	5	PTGER3	1	71512610	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2564140	71512610	177738011	52	123980											
PIGK	10026	broad.mit.edu	37	chr1	77620260	77620260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgaaaaagatcagtgCgatgtccaggagtagacaca	10	10	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:77620260C>T	uc001dhk.2	-	9	905	c.860G>A	c.(859-861)CGC>CAC	p.R287H	PIGK_uc010orj.1_Missense_Mutation_p.R211H|PIGK_uc009wbx.2_Missense_Mutation_p.R193H|PIGK_uc001dhl.1_Missense_Mutation_p.R287H	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	287	Lumenal (Potential).				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			ovary(2)|pancreas(1)	3						AAGATCAGTGCGATGTCCAGG	0.348													T	77620260	C	T	77620260	3	4	250	1	0	0	0	0	1	0	0	0	11890	768	27	1	339	1	PIGK	1	77620260	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6107650	77620260	171630361	53	123981											
ZZZ3	26009	broad.mit.edu	37	chr1	78098731	78098731	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttgccttctctcacaAttttctatagcctgcctttc	4	13	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:78098731A>T	uc001dhq.2	-	5	785	c.309T>A	c.(307-309)AAT>AAA	p.N103K	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.N103K|ZZZ3_uc001dhp.2_Missense_Mutation_p.N103K	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TTCTCTCACAATTTTCTATAG	0.383													T	78098731	A	T	78098731	3	4	250	1	0	0	0	0	1	0	0	0	18253	98	4	5	2446	5	ZZZ3	1	78098731	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	478471	78098731	171151890	54	123982											
NEXN	91624	broad.mit.edu	37	chr1	78392424	78392424	+	Frame_Shift_Del	DEL	A	A	-													gatgaaatagaaagtgaagcAaaaaaagaatcactttctcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:78392424delA	uc001dic.3	+	8	1008	c.711delA	c.(709-711)GCAfs	p.A237fs	NEXN_uc001dia.3_Frame_Shift_Del_p.A223fs|NEXN_uc009wcb.1_Frame_Shift_Del_p.A159fs|NEXN_uc001dib.3_Frame_Shift_Del_p.A173fs|NEXN_uc001did.1_Frame_Shift_Del_p.A147fs|NEXN_uc001dif.1_Frame_Shift_Del_p.A129fs	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	237	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		AAAGTGAAGCAAAAAAAGAAT	0.358													-	78392424	A	-	78392424	7	5	250	1	0	1	0	1	0	0	0	0	10355	117	5	0	737	0	NEXN	1	78392424	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	293693	78392424	170858197	55	123983											
TTLL7	79739	broad.mit.edu	37	chr1	84408217	84408217	+	Frame_Shift_Del	DEL	T	T	-													cccatcatggtagagaaataTttttagtggatcacacgatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:84408216_84408216AT>A	uc001djc.3	-	6	1049	c.653_653AT>T	c.(652-654)atafs	p.I218fs	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	218	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)		GTAGAGAAATATTTTTAGTGG	0.363													-	84408217	T	-	84408217	7	5	250	1	0	1	0	1	0	0	0	0	16729	1493	52	0	2071	0	TTLL7	1	84408217	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	6015793	84408217	164842404	56	123984											
WDR63	126820	broad.mit.edu	37	chr1	85546976	85546976	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagaaatatttaactgcCgaatagatgaagatgtcaca	7	8	1	4	rs145459682	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:85546976C>T	uc001dkt.2	+	4	354	c.163C>T	c.(163-165)CGA>TGA	p.R55*	WDR63_uc009wcl.2_Nonsense_Mutation_p.R55*	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	55										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATTTAACTGCCGAATAGATGA	0.363													T	85546976	C	T	85546976	4	4	250	1	0	0	0	0	0	1	0	0	17311	644	23	1	173	1	WDR63	1	85546976	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1138759	85546976	163703645	57	123985											
WDR63	126820	broad.mit.edu	37	chr1	85550330	85550330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccatgggtttctttgggCagtgaaaaagaaattgagga	12	4	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:85550330C>T	uc001dkt.2	+	6	683	c.492C>T	c.(490-492)GGC>GGT	p.G164G	WDR63_uc009wcl.2_Silent_p.G164G	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	164										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTCTTTGGGCAGTGAAAAAG	0.373													T	85550330	C	T	85550330	2	4	250	1	0	0	0	0	0	0	0	1	17311	697	25	2		2	WDR63	1	85550330	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3354	85550330	163700291	58	123986											
CLCA1	1179	broad.mit.edu	37	chr1	86964339	86964339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtttcagcagaacatcctCgggaggctcatttgtggctt	12	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:86964339C>T	uc001dlt.2	+	13	2327	c.2198C>T	c.(2197-2199)TCG>TTG	p.S733L		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	733					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGAACATCCTCGGGAGGCTCA	0.453													T	86964339	C	T	86964339	3	4	250	1	0	0	0	0	1	0	0	0	3457	893	31	1	2248	1	CLCA1	1	86964339	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1414009	86964339	162286282	59	123987											
HFM1	164045	broad.mit.edu	37	chr1	91851225	91851225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagcattatttgctgTaaacacatttgcagaatact	6	6	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:91851225T>C	uc001doa.3	-	5	761	c.661A>G	c.(661-663)ACA>GCA	p.T221A	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.T221A	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	221							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		TTATTTGCTGTAAACACATTT	0.343													C	91851225	T	C	91851225	3	2	250	1	0	0	0	0	1	0	0	0	7083	1638	57	3	3786	3	HFM1	1	91851225	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4886886	91851225	157399396	60	123988											
TGFBR3	7049	broad.mit.edu	37	chr1	92174326	92174326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcgaggtgcaggcttcGtcaggaggcacacactgcag	14	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:92174326G>A	uc001doh.2	-	14	2647	c.2181C>T	c.(2179-2181)GAC>GAT	p.D727D	TGFBR3_uc009wde.2_Silent_p.D422D|TGFBR3_uc010osy.1_Silent_p.D685D|TGFBR3_uc001doi.2_Silent_p.D726D|TGFBR3_uc001doj.2_Silent_p.D726D	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	727	ZP.|Extracellular (Potential).				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			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGCAGGCTTCGTCAGGAGGCA	0.542													A	92174326	G	A	92174326	2	1	250	1	0	0	0	0	0	0	0	1	15820	1136	40	1		1	TGFBR3	1	92174326	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	323101	92174326	157076295	61	123989											
BCAR3	8412	broad.mit.edu	37	chr1	94140238	94140238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccatcctgggtcacaggCgagttctgccgtggggattt	14	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:94140238C>T	uc001dpz.2	-	2	524	c.249G>A	c.(247-249)TCG>TCA	p.S83S	BCAR3_uc001dqa.2_Silent_p.S83S|BCAR3_uc001dqb.2_Silent_p.S83S	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	83					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		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)		GGGTCACAGGCGAGTTCTGCC	0.547													T	94140238	C	T	94140238	2	4	250	1	0	0	0	0	0	0	0	1	1349	755	27	1		1	BCAR3	1	94140238	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1965912	94140238	155110383	62	123990											
AGL	178	broad.mit.edu	37	chr1	100345545	100345545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgaactgttcacaggaAgtgaagatctggacaatgtc	11	7	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100345545A>C	uc001dsi.1	+	13	2078	c.1678A>C	c.(1678-1680)AGT>CGT	p.S560R	AGL_uc001dsj.1_Missense_Mutation_p.S560R|AGL_uc001dsk.1_Missense_Mutation_p.S560R|AGL_uc001dsl.1_Missense_Mutation_p.S560R|AGL_uc001dsm.1_Missense_Mutation_p.S544R|AGL_uc001dsn.1_Missense_Mutation_p.S543R	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	560	4-alpha-glucanotransferase.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		GTTCACAGGAAGTGAAGATCT	0.368													C	100345545	A	C	100345545	3	2	250	1	0	0	0	0	1	0	0	0	384	72	3	5	1793	5	AGL	1	100345545	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	6205307	100345545	148905076	63	123991											
CCDC76	54482	broad.mit.edu	37	chr1	100608734	100608734	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattcagtgtttgaaagActtcaaattgatattcaaca	5	5	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100608734A>C	uc001dsv.2	+	8	730	c.711A>C	c.(709-711)AGA>AGC	p.R237S	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.R237S	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	237					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		TGTTTGAAAGACTTCAAATTG	0.299													C	100608734	A	C	100608734	3	2	250	1	0	0	0	0	1	0	0	0	2850	272	10	5	741	5	CCDC76	1	100608734	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	263189	100608734	148641887	64	123992											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	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)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	250	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	281103	100889837	148360784	65	123993											
CDC14A	8556	broad.mit.edu	37	chr1	100964688	100964688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaacagaagcagcaacaGcaacgggggcaacctgaaca	11	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100964688G>A	uc001dtg.3	+	15	2113	c.1625G>A	c.(1624-1626)AGC>AAC	p.S542N	CDC14A_uc010oui.1_Missense_Mutation_p.S484N|CDC14A_uc001dtf.2_Missense_Mutation_p.S542N|CDC14A_uc009wed.1_Missense_Mutation_p.S249N|CDC14A_uc009wee.2_Missense_Mutation_p.S542N	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	542					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		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)		AGCAGCAACAGCAACGGGGGC	0.562													A	100964688	G	A	100964688	3	1	250	1	0	0	0	0	1	0	0	0	3056	971	34	2	1698	2	CDC14A	1	100964688	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	74851	100964688	148285933	66	123994											
CDC14A	8556	broad.mit.edu	37	chr1	100964751	100964751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacagaggagcacaccaCcatcctccgaccctcctaca	6	18	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:100964751C>T	uc001dtg.3	+	15	2176	c.1688C>T	c.(1687-1689)ACC>ATC	p.T563I	CDC14A_uc010oui.1_Missense_Mutation_p.T505I|CDC14A_uc001dtf.2_Missense_Mutation_p.T563I|CDC14A_uc009wed.1_Missense_Mutation_p.T270I|CDC14A_uc009wee.2_Missense_Mutation_p.T563I	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	563					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		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)		GAGCACACCACCATCCTCCGA	0.577													T	100964751	C	T	100964751	3	4	250	1	0	0	0	0	1	0	0	0	3056	507	18	4	1761	4	CDC14A	1	100964751	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	63	100964751	148285870	67	123995											
DPH5	51611	broad.mit.edu	37	chr1	101456081	101456081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatcaaggaatgcaatggTtctcccaagtccacagtgca	9	10	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:101456081T>C	uc001dts.2	-	8	888	c.741A>G	c.(739-741)GAA>GAG	p.E247E	DPH5_uc001dtr.2_Silent_p.E246E|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.E247E|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.T212A|DPH5_uc001dty.2_Silent_p.E126E|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	247					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AATGCAATGGTTCTCCCAAGT	0.473													C	101456081	T	C	101456081	2	2	250	1	0	0	0	0	0	0	0	1	4723	1722	60	3		3	DPH5	1	101456081	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	491330	101456081	147794540	68	123996											
VAV3	10451	broad.mit.edu	37	chr1	108315356	108315356	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacaagtaaaagtcctaCgggctgatgtgcttcctctg	9	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:108315356C>T	uc001dvk.1	-	5	609	c.555_splice	c.e5+1	p.P185_splice	VAV3_uc010ouw.1_Splice_Site_p.P185_splice|VAV3_uc001dvl.1_Splice_Site_p.P9_splice|VAV3_uc010oux.1_Splice_Site_p.P185_splice	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform						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			ovary(5)|lung(2)|breast(2)	9		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)		AAAAGTCCTACGGGCTGATGT	0.353													T	108315356	C	T	108315356	5	4	250	1	0	0	0	0	0	0	1	0	17130	550	19	1	2104	1	VAV3	1	108315356	Splice_Site	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6859275	108315356	140935265	69	123997											
CELSR2	1952	broad.mit.edu	37	chr1	109815573	109815573	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaagaggaggccgcCttccctggagagcagggctg	19	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:109815573C>A	uc001dxa.3	+	31	8323	c.8262C>A	c.(8260-8262)GCC>GCA	p.A2754A		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2754	Cytoplasmic (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		aggaggCCGCCTTCCCTGGAG	0.527													A	109815573	C	A	109815573	2	1	250	1	0	0	0	0	0	0	0	1	3222	668	24	5		5	CELSR2	1	109815573	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1500217	109815573	139435048	70	123998											
FAM40A	85369	broad.mit.edu	37	chr1	110593031	110593031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgacggcggagagtttGgtgagtggctgggctctcct	18	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:110593031G>A	uc001dza.1	+	18	1975	c.1956G>A	c.(1954-1956)TTG>TTA	p.L652L	FAM40A_uc001dyz.1_Silent_p.L557L|FAM40A_uc009wfp.1_Silent_p.L476L	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	652						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CGGAGAGTTTGGTGAGTGGCT	0.592													A	110593031	G	A	110593031	2	1	250	1	0	0	0	0	0	0	0	1	5560	1362	47	4		4	FAM40A	1	110593031	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	777458	110593031	138657590	71	123999											
CSDE1	7812	broad.mit.edu	37	chr1	115261289	115261289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattaggcgaggagcactgGcatcatccagagtgatattc	11	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:115261289G>A	uc001efk.2	-	19	2760	c.2294C>T	c.(2293-2295)GCC>GTC	p.A765V	NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Missense_Mutation_p.A811V|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.A734V|CSDE1_uc001efm.2_Missense_Mutation_p.A780V|CSDE1_uc009wgv.2_Missense_Mutation_p.A765V|CSDE1_uc001efn.2_Missense_Mutation_p.A734V	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	765					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		AGGAGCACTGGCATCATCCAG	0.507													A	115261289	G	A	115261289	3	1	250	1	0	0	0	0	1	0	0	0	3929	1203	42	2	110	2	CSDE1	1	115261289	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4668258	115261289	133989332	72	124000											
SV2A	9900	broad.mit.edu	37	chr1	149885257	149885257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcaaagcgggagtAcgatcttcgggaatattcgt	10	11	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:149885257A>G	uc001etg.2	-	2	627	c.136T>C	c.(136-138)TAC>CAC	p.Y46H	SV2A_uc001eth.2_Missense_Mutation_p.Y46H	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	46	Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	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)	AAGCGGGAGTACGATCTTCGG	0.542													G	149885257	A	G	149885257	3	3	250	1	0	0	0	0	1	0	0	0	15414	391	14	3	2140	3	SV2A	1	149885257	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	34623968	149885257	99365364	73	124001											
OTUD7B	56957	broad.mit.edu	37	chr1	149949436	149949436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacagaacagcatccatgtCcagggtcatgtgatcctcaa	9	11	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:149949436C>T	uc001etn.2	-	2	366	c.10G>A	c.(10-12)GAC>AAC	p.D4N		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	4					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	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)			GCATCCATGTCCAGGGTCATG	0.478													T	149949436	C	T	149949436	3	4	250	1	0	0	0	0	1	0	0	0	11319	855	30	4	2565	4	OTUD7B	1	149949436	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	64179	149949436	99301185	74	124002											
RFX5	5993	broad.mit.edu	37	chr1	151316303	151316303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacaggtcagggcacacGctgcctccaccagttcatct	9	15	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:151316303G>A	uc001exv.1	-	9	825	c.611C>T	c.(610-612)GCG>GTG	p.A204V	RFX5_uc001exw.1_Missense_Mutation_p.A204V|RFX5_uc009wmr.1_Missense_Mutation_p.A204V|RFX5_uc010pcx.1_Missense_Mutation_p.A164V	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	204						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)			CAGGGCACACGCTGCCTCCAC	0.552													A	151316303	G	A	151316303	3	1	250	1	0	0	0	0	1	0	0	0	13266	1087	38	1	1251	1	RFX5	1	151316303	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1366867	151316303	97934318	75	124003											
MRPL9	65005	broad.mit.edu	37	chr1	151733319	151733319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaccaatactcgccccaCcgtgtgataggctcttctgg	8	15	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:151733319C>T	uc001eyv.2	-	6	730	c.645G>A	c.(643-645)CGG>CGA	p.R215R	MRPL9_uc009wmz.2_RNA	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9 precursor	215					translation	mitochondrial ribosome	structural constituent of ribosome			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCGCCCCACCGTGTGATAG	0.368													T	151733319	C	T	151733319	2	4	250	1	0	0	0	0	0	0	0	1	9820	494	18	4		4	MRPL9	1	151733319	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	417016	151733319	97517302	76	124004											
THEM4	117145	broad.mit.edu	37	chr1	151849481	151849481	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaccagcttcttacttgtCgcctctgagtatagggtctt	9	10	3	2	rs146012344		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:151849481C>T	uc001ezj.1	-	5	857	c.678G>A	c.(676-678)GCG>GCA	p.A226A	THEM4_uc001ezk.1_RNA	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	226					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane					0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTACTTGTCGCCTCTGAGT	0.353													T	151849481	C	T	151849481	2	4	250	1	0	0	0	0	0	0	0	1	15855	871	31	1		1	THEM4	1	151849481	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	116162	151849481	97401140	77	124005											
FLG	2312	broad.mit.edu	37	chr1	152278793	152278793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggaagcttcatggtgacGcgaccctgagtgcctggagc	15	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:152278793G>A	uc001ezu.1	-	3	8605	c.8569C>T	c.(8569-8571)CGT>TGT	p.R2857C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2857	Ser-rich.|Filaggrin 17.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGACGCGACCCTGAG	0.572									Ichthyosis				A	152278793	G	A	152278793	3	1	250	1	0	0	0	0	1	0	0	0	5922	1087	38	1	3620	1	FLG	1	152278793	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	429312	152278793	96971828	78	124006											
SLC27A3	11000	broad.mit.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-													tggcagccctagttctgcgtCccccccacgctttggacctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622													-	153751860	C	-	153751860	7	5	250	1	0	1	0	1	0	0	0	0	14527	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	1473067	153751860	95498761	79	124007											
SLC39A1	27173	broad.mit.edu	37	chr1	153932722	153932722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgccagctgccatgcccTctagcacagactgggccagc	12	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:153932722T>C	uc001fdh.2	-	4	996	c.827A>G	c.(826-828)GAG>GGG	p.E276G	CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.E276G|SLC39A1_uc001fdj.2_Missense_Mutation_p.E276G|SLC39A1_uc001fdk.2_Missense_Mutation_p.E276G|SLC39A1_uc010pee.1_Missense_Mutation_p.E174G|SLC39A1_uc001fdl.2_Missense_Mutation_p.E276G	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	276	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	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)		TGCCATGCCCTCTAGCACAGA	0.577													C	153932722	T	C	153932722	3	2	250	1	0	0	0	0	1	0	0	0	14612	1551	54	3	151	3	SLC39A1	1	153932722	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	180862	153932722	95317899	80	124008											
SLC39A1	27173	broad.mit.edu	37	chr1	153934820	153934820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggctcagggctttctggCgggaagctgggtaggggtga	19	7	2	1	rs61755890	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:153934820C>T	uc001fdh.2	-	3	363	c.194G>A	c.(193-195)CGC>CAC	p.R65H	SLC39A1_uc001fdi.2_Missense_Mutation_p.R65H|SLC39A1_uc001fdj.2_Missense_Mutation_p.R65H|SLC39A1_uc001fdk.2_Missense_Mutation_p.R65H|SLC39A1_uc010pee.1_Intron|SLC39A1_uc001fdl.2_Missense_Mutation_p.R65H	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	65	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	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)		GGCTTTCTGGCGGGAAGCTGG	0.587													T	153934820	C	T	153934820	3	4	250	1	0	0	0	0	1	0	0	0	14612	768	27	1	788	1	SLC39A1	1	153934820	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2098	153934820	95315801	81	124009											
HAX1	10456	broad.mit.edu	37	chr1	154246391	154246391	+	Frame_Shift_Del	DEL	C	C	-													gagtgatgcaagaagtgaatCcccccaaccagcaccagact							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:154246390_154246390TC>T	uc010peo.2	+	2	642	c.481_481TC>T	c.(481-483)tccfs	p.S161fs	HAX1_uc001fet.3_Frame_Shift_Del_p.S105fs|HAX1_uc001fes.3_Frame_Shift_Del_p.S153fs|HAX1_uc009wou.3_Frame_Shift_Del_p.S78fs	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	153	Involved in HCLS1 binding.					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)			AAGAAGTGAATCCCCCCAACC	0.527									Kostmann syndrome				-	154246391	C	-	154246391	7	5	250	1	0	1	0	1	0	0	0	0	6975	855	30	0	468	0	HAX1	1	154246391	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	311571	154246391	95004230	82	124010											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987844	154987844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttgacctatgaggaggaGgaggtggcgggcagagtggg	20	7	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:154987844G>T	uc001fgk.3	+	3	866	c.708G>T	c.(706-708)GAG>GAT	p.E236D	ZBTB7B_uc009wpa.2_Missense_Mutation_p.E236D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E270D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E270D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E236D	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	236					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	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)			ATGAGGAGGAGGAGGTGGCGG	0.662													T	154987844	G	T	154987844	3	4	250	1	0	0	0	0	1	0	0	0	17551	991	35	5	710	5	ZBTB7B	1	154987844	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	741453	154987844	94262777	83	124011											
ADAM15	8751	broad.mit.edu	37	chr1	155030333	155030333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccctccacagctgcgcCcgtctggctggcagtgtcgt	11	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155030333C>A	uc001fgr.1	+	14	1524	c.1423C>A	c.(1423-1425)CCG>ACG	p.P475T	ADAM15_uc001fgq.1_Missense_Mutation_p.P160T|ADAM15_uc010pet.1_Missense_Mutation_p.P459T|ADAM15_uc010peu.1_Missense_Mutation_p.P492T|ADAM15_uc001fgt.1_Missense_Mutation_p.P475T|ADAM15_uc010pev.1_Missense_Mutation_p.P485T|ADAM15_uc001fgs.1_Missense_Mutation_p.P475T|ADAM15_uc001fgu.1_Missense_Mutation_p.P475T|ADAM15_uc001fgw.1_Missense_Mutation_p.P475T|ADAM15_uc001fgv.1_Missense_Mutation_p.P475T|ADAM15_uc001fgx.1_Missense_Mutation_p.P475T|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	475	Disintegrin.|Extracellular (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	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)			ACAGCTGCGCCCGTCTGGCTG	0.617													A	155030333	C	A	155030333	3	1	250	1	0	0	0	0	1	0	0	0	237	623	22	5	1477	5	ADAM15	1	155030333	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	42489	155030333	94220288	84	124012											
THBS3	7059	broad.mit.edu	37	chr1	155177624	155177626	+	In_Frame_Del	DEL	AGG	AGG	-													tggcagatgtgaaaaagcaaAggaggagaagagccagggcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155177623_155177625AAGG>A	uc001fix.3	-	0	148_150	c.43_45CCTT>T	c.(43-45)ctt>T	p.L15del	THBS3_uc010pfu.2_In_Frame_Del_p.L15del|THBS3_uc009wqi.3_In_Frame_Del_p.L15del|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjb.3_5'Flank|MTX1_uc001fjc.3_5'Flank	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	15					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)			TGAAAAAGCAAAGGAGGAGAAGA	0.591													-	155177626	AGG	-	155177624	7	5	250	1	0	1	0	1	0	0	0	0	15852	72	3	0	2918	0	THBS3	1	155177624	In_Frame_Del	DEL	AGG	TCGA-HF-7132-01A-11D-2053-08	147291	155177624	94072997	85	124013											
SYT11	23208	broad.mit.edu	37	chr1	155837764	155837764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgccttcagatgtgtcaCcggtggtggccggcctcatc	12	15	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155837764C>T	uc001fmg.2	+	2	306	c.43C>T	c.(43-45)CCG>TCG	p.P15S	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	15	Vesicular (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGATGTGTCACCGGTGGTGGC	0.597													T	155837764	C	T	155837764	3	4	250	1	0	0	0	0	1	0	0	0	15464	507	18	4	49	4	SYT11	1	155837764	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	660140	155837764	93412857	86	124014											
ARHGEF2	9181	broad.mit.edu	37	chr1	155939051	155939051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgcccattggtatagCgggcatccttggcttccttc	12	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:155939051C>T	uc001fmt.2	-	2	222	c.104G>A	c.(103-105)CGC>CAC	p.R35H	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R8H|ARHGEF2_uc001fms.2_Missense_Mutation_p.R35H|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R80H|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R8H|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R80H	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	35					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			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATTGGTATAGCGGGCATCCTT	0.537													T	155939051	C	T	155939051	3	4	250	1	0	0	0	0	1	0	0	0	903	768	27	1	2940	1	ARHGEF2	1	155939051	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	101287	155939051	93311570	87	124015											
TMEM79	84283	broad.mit.edu	37	chr1	156256115	156256115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctttggggagccacgGcgggaggtggagatccaccg	18	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156256115G>A	uc010phi.1	+	3	1018	c.822G>A	c.(820-822)CGG>CGA	p.R274R	TMEM79_uc001fod.2_Silent_p.R115R|TMEM79_uc009wrw.2_Silent_p.R274R	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	274						integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					GGGAGCCACGGCGGGAGGTGG	0.582													A	156256115	G	A	156256115	2	1	250	1	0	0	0	0	0	0	0	1	16200	1190	42	2		2	TMEM79	1	156256115	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	317064	156256115	92994506	88	124016											
TTC24	164118	broad.mit.edu	37	chr1	156552170	156552170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgggatggcccacaatgCcctcggcaactatcaggaag	11	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156552170C>T	uc009wsc.1	+	1	154	c.14C>T	c.(13-15)GCC>GTC	p.A5V		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	285	TPR 6.						binding			pancreas(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCACAATGCCCTCGGCAAC	0.632													T	156552170	C	T	156552170	3	4	250	1	0	0	0	0	1	0	0	0	16689	739	26	2	860	2	TTC24	1	156552170	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	296055	156552170	92698451	89	124017											
ISG20L2	81875	broad.mit.edu	37	chr1	156696887	156696887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttggtcctgtgcccacCatctcacagtcaattgccac	6	17	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156696887C>T	uc001fps.1	-	1	819	c.558G>A	c.(556-558)ATG>ATA	p.M186I	ISG20L2_uc001fpt.1_Missense_Mutation_p.M186I|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	186	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTGCCCACCATCTCACAGT	0.502											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	156696887	C	T	156696887	3	4	250	1	0	0	0	0	1	0	0	0	7855	594	21	4	515	4	ISG20L2	1	156696887	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	144717	156696887	92553734	90	124018											
HDGF	3068	broad.mit.edu	37	chr1	156714103	156714103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcagcttcgggctctGgttcaggctcttccacacag	10	15	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156714103G>T	uc001fpy.3	-	4	663	c.341C>A	c.(340-342)CCA>CAA	p.P114Q	HDGF_uc009wsd.2_Missense_Mutation_p.P82Q|HDGF_uc001fpz.3_Missense_Mutation_p.P107Q|HDGF_uc009wse.2_Missense_Mutation_p.P130Q|HDGF_uc010phr.1_Missense_Mutation_p.P137Q|HDGF_uc009wsf.2_Missense_Mutation_p.P82Q|HDGF_uc009wsg.2_Missense_Mutation_p.P114Q	NM_004494	NP_004485	P51858	HDGF_HUMAN	hepatoma-derived growth factor isoform a	114	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			lung(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TTCGGGCTCTGGTTCAGGCTC	0.607													T	156714103	G	T	156714103	3	4	250	1	0	0	0	0	1	0	0	0	7018	1348	47	5	393	5	HDGF	1	156714103	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	17216	156714103	92536518	91	124019											
PRCC	5546	broad.mit.edu	37	chr1	156767101	156767101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaacaggccagcagcggCggaaacaccagatcacatat	10	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156767101C>T	uc001fqa.2	+	6	1647	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	PRCC_uc001fqb.2_Missense_Mutation_p.R421W	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	453					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGCAGCGGCGGAAACACCA	0.468			T	TFE3	papillary renal 						OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	156767101	C	T	156767101	3	4	250	1	0	0	0	0	1	0	0	0	12447	759	27	1	1379	1	PRCC	1	156767101	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	52998	156767101	92483520	92	124020											
INSRR	3645	broad.mit.edu	37	chr1	156823941	156823941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagagcagcaggtagtcGgtgacctgggtgaggcgagg	20	7	0	3	rs149908610		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156823941G>A	uc010pht.1	-	2	494	c.240C>T	c.(238-240)ACC>ACT	p.T80T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Silent_p.T80T	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	80					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			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGGTAGTCGGTGACCTGGG	0.647													A	156823941	G	A	156823941	2	1	250	1	0	0	0	0	0	0	0	1	7774	1103	39	1		1	INSRR	1	156823941	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	56840	156823941	92426680	93	124021											
ARHGEF11	9826	broad.mit.edu	37	chr1	156909626	156909626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgtcaggtcgtcctcGggctcctgggcagcctgagt	17	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156909626G>A	uc001fqo.2	-	36	4730	c.3690C>T	c.(3688-3690)CCC>CCT	p.P1230P	ARHGEF11_uc010phu.1_Silent_p.P646P|ARHGEF11_uc001fqn.2_Silent_p.P1270P	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1230					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTCGTCCTCGGGCTCCTGGG	0.632													A	156909626	G	A	156909626	2	1	250	1	0	0	0	0	0	0	0	1	896	1103	39	1		1	ARHGEF11	1	156909626	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	85685	156909626	92340995	94	124022											
ARHGEF11	9826	broad.mit.edu	37	chr1	156918293	156918294	+	Splice_Site	INS	-	-	G													gaatctctgagcgtgaactgINSgggggaagggacaaaagact							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:156918292_156918293T>TG	uc001fqo.3	-	22	2846	c.1806_splice	c.e22-1	p.S602_splice	ARHGEF11_uc010phu.2_Splice_Site_p.S18_splice|ARHGEF11_uc001fqn.3_Splice_Site_p.S642_splice|ARHGEF11_uc001fqp.1_Intron	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	602					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCGTGAACTGGGGGGAAGGG	0.569													G	156918294	-	G	156918293	8	5	250	1	0	1	1	0	0	0	1	0	896	1363	47	0		0	ARHGEF11	1	156918293	Splice_Site	INS	-	TCGA-HF-7132-01A-11D-2053-08	8667	156918293	92332328	95	124023											
FCRL3	115352	broad.mit.edu	37	chr1	157668338	157668338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggaatgtgatatgctgCtgcatatgagagccactttt	11	7	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:157668338C>T	uc001frb.2	-	4	426	c.134G>A	c.(133-135)AGC>AAC	p.S45N	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S45N|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.S45N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	45	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGATATGCTGCTGCATATGAG	0.443													T	157668338	C	T	157668338	3	4	250	1	0	0	0	0	1	0	0	0	5796	797	28	2	2118	2	FCRL3	1	157668338	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	750045	157668338	91582283	96	124024											
PYHIN1	149628	broad.mit.edu	37	chr1	158906961	158906961	+	Frame_Shift_Del	DEL	A	A	-													actcttaaaagagaaaagttAaaaggtaattgggaagaggg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:158906960_158906960TA>T	uc001ftb.3	+	1	510	c.260_260TA>T	c.(259-261)ttafs	p.L87fs	PYHIN1_uc001fta.4_Frame_Shift_Del_p.L87fs|PYHIN1_uc001ftc.3_Frame_Shift_Del_p.L87fs|PYHIN1_uc001ftd.3_Frame_Shift_Del_p.L87fs|PYHIN1_uc001fte.3_Frame_Shift_Del_p.L87fs	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	87	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)					AGAGAAAAGTTAAAAGGTAAT	0.448													-	158906961	A	-	158906961	7	5	250	1	0	1	0	1	0	0	0	0	12865	359	13	0	263	0	PYHIN1	1	158906961	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	1238623	158906961	90343660	97	124025											
KLHDC9	126823	broad.mit.edu	37	chr1	161069416	161069416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgttgctcctcatttgaTggaacagcttgcaaggcttg	10	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:161069416T>C	uc001fxr.2	+	3	888	c.716T>C	c.(715-717)ATG>ACG	p.M239T	KLHDC9_uc001fxq.2_Missense_Mutation_p.M1T|KLHDC9_uc001fxs.2_Silent_p.D245D	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	kelch/ankyrin repeat containing cyclin A1	239											0	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTCATTTGATGGAACAGCTT	0.542													C	161069416	T	C	161069416	3	2	250	1	0	0	0	0	1	0	0	0	8364	1464	51	3	745	3	KLHDC9	1	161069416	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	2162455	161069416	88181205	98	124026											
RGS4	5999	broad.mit.edu	37	chr1	163043401	163043401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaattcatctcagtccagGcaaccaaagaggtaggtttt	9	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:163043401G>A	uc009wuy.2	+	4	878	c.367G>A	c.(367-369)GCA>ACA	p.A123T	RGS4_uc001gcl.3_Missense_Mutation_p.A220T|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Missense_Mutation_p.A105T	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	123	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						CTCAGTCCAGGCAACCAAAGA	0.234													A	163043401	G	A	163043401	3	1	250	1	0	0	0	0	1	0	0	0	13307	1203	42	2	676	2	RGS4	1	163043401	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1973985	163043401	86207220	99	124027											
ILDR2	387597	broad.mit.edu	37	chr1	166926056	166926057	+	Frame_Shift_Ins	INS	-	-	C													gtaatagagtccgctgtctcINScccacataagctttccaatt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:166926055_166926056T>TC	uc001gdx.2	-	2	469_470	c.413_414A>GA	c.(412-414)ggafs	p.G138fs		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	138	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GTCCGCTGTCTCCCCACATAAG	0.426													C	166926057	-	C	166926056	7	5	250	1	0	1	1	0	0	0	0	0	7710	855	30	0	1538	0	ILDR2	1	166926056	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	3882655	166926056	82324565	100	124028											
SLC9A11	284525	broad.mit.edu	37	chr1	173545802	173545802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgataggaaacttacttAgtaattacaagttcgatctt	7	7	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:173545802A>G	uc001giz.2	-	8	1323	c.900T>C	c.(898-900)ACT>ACC	p.T300T	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	300					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AAACTTACTTAGTAATTACAA	0.403													G	173545802	A	G	173545802	2	3	250	1	0	0	0	0	0	0	0	1	14711	407	15	3		3	SLC9A11	1	173545802	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	6619746	173545802	75704819	101	124029											
RC3H1	149041	broad.mit.edu	37	chr1	173950010	173950010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccataaagcaaagaggaccaCtggtccggtgcaattcgtaa	10	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:173950010C>T	uc001gju.3	-	5	993	c.906G>A	c.(904-906)CAG>CAA	p.Q302Q	RC3H1_uc010pms.1_Silent_p.Q302Q|RC3H1_uc001gjv.2_Silent_p.Q302Q|RC3H1_uc010pmt.1_Silent_p.Q302Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	302					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			ovary(2)	2						AAGAGGACCACTGGTCCGGTG	0.433													T	173950010	C	T	173950010	2	4	250	1	0	0	0	0	0	0	0	1	13166	564	20	4		4	RC3H1	1	173950010	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	404208	173950010	75300611	102	124030											
TNN	63923	broad.mit.edu	37	chr1	175048557	175048557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggagggccccgcctgCgagcggctggcctgccccgg	19	16	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:175048557C>T	uc001gkl.1	+	3	611	c.498C>T	c.(496-498)TGC>TGT	p.C166C	TNN_uc010pmx.1_Silent_p.C166C	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	166					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCCGCCTGCGAGCGGCTGG	0.726													T	175048557	C	T	175048557	2	4	250	1	0	0	0	0	0	0	0	1	16320	776	27	1		1	TNN	1	175048557	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1098547	175048557	74202064	103	124031											
PAPPA2	60676	broad.mit.edu	37	chr1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-													tgttccccattgtgtgtaatCccccccagtgaccccgtgat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:176762723_176762723TC>T	uc001gkz.3	+	19	6212	c.5048_5048TC>T	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				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						TTGTGTGTAATCCCCCCCAGT	0.473													-	176762724	C	-	176762724	7	5	250	1	0	1	0	1	0	0	0	0	11433	845	30	0	5176	0	PAPPA2	1	176762724	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	1714167	176762724	72487897	104	124032											
SOAT1	6646	broad.mit.edu	37	chr1	179314166	179314166	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcaaacaggagcccttcAgcgctcgtgttctggtccta	9	12	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:179314166A>C	uc001gml.2	+	11	1135	c.1072A>C	c.(1072-1074)AGC>CGC	p.S358R	SOAT1_uc010pni.1_Missense_Mutation_p.S293R|SOAT1_uc001gmm.2_Missense_Mutation_p.S300R|SOAT1_uc010pnj.1_Missense_Mutation_p.S94R|SOAT1_uc010pnk.1_Missense_Mutation_p.S293R	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	358					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)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGAGCCCTTCAGCGCTCGTGT	0.413													C	179314166	A	C	179314166	3	2	250	1	0	0	0	0	1	0	0	0	14910	188	7	5	1110	5	SOAT1	1	179314166	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2551442	179314166	69936455	105	124033											
C1orf125	126859	broad.mit.edu	37	chr1	179364323	179364323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaagctcttttaaatgcGgaaaagaatgccaagtgagt	10	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:179364323G>A	uc001gmo.2	+	11	1222	c.1095G>A	c.(1093-1095)GCG>GCA	p.A365A	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Silent_p.A153A|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.A365A	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	365	Potential.										0						TTTTAAATGCGGAAAAGAATG	0.348													A	179364323	G	A	179364323	2	1	250	1	0	0	0	0	0	0	0	1	1993	1103	39	1		1	C1orf125	1	179364323	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	50157	179364323	69886298	106	124034											
DHX9	1660	broad.mit.edu	37	chr1	182853799	182853799	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtatcactggtctccgGgcagccatggaggctttggt	14	11	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:182853799G>T	uc001gpr.2	+	27	3475	c.3312G>T	c.(3310-3312)CGG>CGT	p.R1104R	DHX9_uc001gps.2_Silent_p.R890R|DHX9_uc001gpt.2_Silent_p.R383R|DHX9_uc009wyd.2_Silent_p.R69R	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1104					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			ovary(2)	2						CTGGTCTCCGGGCAGCCATGG	0.433													T	182853799	G	T	182853799	2	4	250	1	0	0	0	0	0	0	0	1	4516	1219	43	5		5	DHX9	1	182853799	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3489476	182853799	66396822	107	124035											
HMCN1	83872	broad.mit.edu	37	chr1	185833648	185833648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattggagctataaaaattgCcttggaaatttctcttcctg	7	7	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:185833648C>A	uc001grq.1	+	3	615	c.386C>A	c.(385-387)GCC>GAC	p.A129D		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	129	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATAAAAATTGCCTTGGAAATT	0.403													A	185833648	C	A	185833648	3	1	250	1	0	0	0	0	1	0	0	0	7220	739	26	5	396	5	HMCN1	1	185833648	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2979849	185833648	63416973	108	124036											
F13B	2165	broad.mit.edu	37	chr1	197026324	197026324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggctaccttctcctgTccttctgaaaaggtacagtt	7	12	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:197026324T>C	uc001gtt.1	-	7	1034	c.990A>G	c.(988-990)GGA>GGG	p.G330G		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	330					blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CCTTCTCCTGTCCTTCTGAAA	0.383													C	197026324	T	C	197026324	2	2	250	1	0	0	0	0	0	0	0	1	5341	1654	58	3		3	F13B	1	197026324	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	11192676	197026324	52224297	109	124037											
ASPM	259266	broad.mit.edu	37	chr1	197094202	197094202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcacttaattcaattcctCgtgatttaagaacttgaaga	5	8	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:197094202C>T	uc001gtu.2	-	11	3313	c.3056G>A	c.(3055-3057)CGA>CAA	p.R1019Q	ASPM_uc001gtv.2_Missense_Mutation_p.R1019Q|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1019	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTCAATTCCTCGTGATTTAAG	0.373													T	197094202	C	T	197094202	3	4	250	1	0	0	0	0	1	0	0	0	1056	884	31	1	7449	1	ASPM	1	197094202	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	67878	197094202	52156419	110	124038											
NAV1	89796	broad.mit.edu	37	chr1	201682022	201682022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagaccatgtccagcCtgcgagggtcccaggtgact	14	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:201682022C>A	uc001gwu.2	+	2	1182	c.835C>A	c.(835-837)CTG>ATG	p.L279M		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	279	Potential.				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CATGTCCAGCCTGCGAGGGTC	0.607													A	201682022	C	A	201682022	3	1	250	1	0	0	0	0	1	0	0	0	10183	680	24	5	841	5	NAV1	1	201682022	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4587820	201682022	47568599	111	124039											
NAV1	89796	broad.mit.edu	37	chr1	201780773	201780773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagccaaccagatagacCgggaaacaggaattggggat	12	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:201780773C>T	uc001gwu.2	+	24	5178	c.4831C>T	c.(4831-4833)CGG>TGG	p.R1611W	NAV1_uc001gwx.2_Missense_Mutation_p.R1220W	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1614					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCAGATAGACCGGGAAACAGG	0.517													T	201780773	C	T	201780773	3	4	250	1	0	0	0	0	1	0	0	0	10183	643	23	1	4995	1	NAV1	1	201780773	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	98751	201780773	47469848	112	124040											
TIMM17A	10440	broad.mit.edu	37	chr1	201926416	201926416	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgttcttagcccatggCgaattgtggatgactgtggt	12	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:201926416C>T	uc001gxc.2	+	2	70	c.34C>T	c.(34-36)CGA>TGA	p.R12*		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	12					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						TAGCCCATGGCGAATTGTGGA	0.413													T	201926416	C	T	201926416	4	4	250	1	0	0	0	0	0	1	0	0	15905	760	27	1	40	1	TIMM17A	1	201926416	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	145643	201926416	47324205	113	124041											
PPP1R12B	4660	broad.mit.edu	37	chr1	202386024	202386024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatgcagcagcttcctGtggctatctcaacatagcag	8	13	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:202386024G>A	uc001gya.1	+	2	545	c.401G>A	c.(400-402)TGT>TAT	p.C134Y	PPP1R12B_uc001gxy.2_Missense_Mutation_p.C134Y|PPP1R12B_uc009xad.1_Translation_Start_Site|PPP1R12B_uc009xae.1_Missense_Mutation_p.C134Y|PPP1R12B_uc001gxz.1_Missense_Mutation_p.C134Y	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	134	ANK 3.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAGCTTCCTGTGGCTATCTC	0.448													A	202386024	G	A	202386024	3	1	250	1	0	0	0	0	1	0	0	0	12355	1377	48	4	407	4	PPP1R12B	1	202386024	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	459608	202386024	46864597	114	124042											
KLHL12	59349	broad.mit.edu	37	chr1	202894275	202894275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcattatgtctttgggggCcataatgcctcccataaagc	9	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:202894275C>T	uc001gyo.1	-	2	216	c.16G>A	c.(16-18)GCC>ACC	p.A6T	KLHL12_uc010pqc.1_Missense_Mutation_p.A44T|KLHL12_uc009xah.1_Missense_Mutation_p.A6T	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	6					Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTTTGGGGGCCATAATGCCT	0.408													T	202894275	C	T	202894275	3	4	250	1	0	0	0	0	1	0	0	0	8368	739	26	2	1734	2	KLHL12	1	202894275	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	508251	202894275	46356346	115	124043											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438072	204438073	+	Frame_Shift_Ins	INS	-	-	G													tagcgggaggcataggtgcgINSggggggcacctgagggggca					rs115574296	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:204438071_204438072C>CG	uc001haw.3	-	2	1338_1339	c.859_860G>CG	c.(859-861)cgcfs	p.R287fs	PIK3C2B_uc010pqv.2_Frame_Shift_Ins_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Ins_p.R287fs|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	287	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	p.R287fs*92(2)		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)			GGCATAGGTGCGGGGGGGCACC	0.624													G	204438073	-	G	204438072	7	5	250	1	0	1	1	0	0	0	0	0	11910	1116	39	0	4173	0	PIK3C2B	1	204438072	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1543797	204438072	44812549	116	124044											
NFASC	23114	broad.mit.edu	37	chr1	204948564	204948564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccaagtaccccggcagcGttaactcagccgtcctccgg	9	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:204948564G>A	uc001hbj.2	+	19	2381	c.2053G>A	c.(2053-2055)GTT>ATT	p.V685I	NFASC_uc010pra.1_Missense_Mutation_p.V681I|NFASC_uc001hbi.2_Missense_Mutation_p.V681I|NFASC_uc010prb.1_Missense_Mutation_p.V696I|NFASC_uc010prc.1_Missense_Mutation_p.V252I|NFASC_uc001hbk.1_Missense_Mutation_p.V491I|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	685	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			CCCCGGCAGCGTTAACTCAGC	0.572													A	204948564	G	A	204948564	3	1	250	1	0	0	0	0	1	0	0	0	10359	1145	40	1	2203	1	NFASC	1	204948564	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	510492	204948564	44302057	117	124045											
IKBKE	9641	broad.mit.edu	37	chr1	206648304	206648304	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaatgcctttgggctgcctGaggatgagttcctggtggtg	16	7	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:206648304G>A	uc001hdz.1	+	5	693	c.325G>A	c.(325-327)GAG>AAG	p.E109K	IKBKE_uc009xbu.1_Missense_Mutation_p.E109K|IKBKE_uc009xbv.1_Missense_Mutation_p.E109K|IKBKE_uc001hea.1_Missense_Mutation_p.E24K	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	109	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			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					TGGGCTGCCTGAGGATGAGTT	0.632													A	206648304	G	A	206648304	3	1	250	1	0	0	0	0	1	0	0	0	7612	1291	45	4	335	4	IKBKE	1	206648304	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1699740	206648304	42602317	118	124046											
PFKFB2	5208	broad.mit.edu	37	chr1	207236057	207236057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaggaggccatgaagatcCgcaagtgagtcttgtttaag	13	6	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:207236057C>A	uc001hfg.2	+	4	413	c.304C>A	c.(304-306)CGC>AGC	p.R102S	PFKFB2_uc010psc.1_Missense_Mutation_p.R4S|PFKFB2_uc001hfh.2_Missense_Mutation_p.R102S|PFKFB2_uc009xcc.2_Missense_Mutation_p.R60S|PFKFB2_uc010psd.1_5'Flank	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	102	6-phosphofructo-2-kinase.	Fructose-6-phosphate (By similarity).			fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					CATGAAGATCCGCAAGTGAGT	0.468													A	207236057	C	A	207236057	3	1	250	1	0	0	0	0	1	0	0	0	11761	652	23	5	314	5	PFKFB2	1	207236057	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	587753	207236057	42014564	119	124047											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				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						TGGAGTGCTGTCCCCCCCACA	0.393													-	207642044	C	-	207642044	7	5	250	1	0	1	0	1	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	405987	207642044	41608577	120	124048											
CR1	1378	broad.mit.edu	37	chr1	207789961	207789961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctatccttaatgggagaCacacaggaactccctttgga	9	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:207789961C>T	uc001hfy.2	+	33	5493	c.5353C>T	c.(5353-5355)CAC>TAC	p.H1785Y	CR1_uc001hfx.2_Missense_Mutation_p.H2235Y	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1785	Sushi 28.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TAATGGGAGACACACAGGAAC	0.408													T	207789961	C	T	207789961	3	4	250	1	0	0	0	0	1	0	0	0	3840	478	17	4	6865	4	CR1	1	207789961	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	147917	207789961	41460660	121	124049											
CD34	947	broad.mit.edu	37	chr1	208062131	208062131	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccagtgcaatcagggTcttttgggaatagctctggt	14	7	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:208062131T>A	uc001hgw.1	-	7	1126	c.868A>T	c.(868-870)ACC>TCC	p.T290S	CD34_uc001hgv.1_Missense_Mutation_p.T132S|CD34_uc001hgx.1_Missense_Mutation_p.T290S|CD34_uc010psj.1_Missense_Mutation_p.T155S	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	290	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						GCAATCAGGGTCTTTTGGGAA	0.527													A	208062131	T	A	208062131	3	1	250	1	0	0	0	0	1	0	0	0	3006	1667	58	5	316	5	CD34	1	208062131	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	272170	208062131	41188490	122	124050											
PLXNA2	5362	broad.mit.edu	37	chr1	208390710	208390710	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcttcccatccacagcCgtgccgatgaagagcttgcc	9	16	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:208390710C>A	uc001hgz.2	-	2	1316	c.558G>T	c.(556-558)ACG>ACT	p.T186T	PLXNA2_uc001hha.3_Silent_p.T240T	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	186	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CATCCACAGCCGTGCCGATGA	0.587													A	208390710	C	A	208390710	2	1	250	1	0	0	0	0	0	0	0	1	12120	639	23	5		5	PLXNA2	1	208390710	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	328579	208390710	40859911	123	124051											
LAMB3	3914	broad.mit.edu	37	chr1	209823320	209823320	+	Frame_Shift_Del	DEL	G	G	-													agggcctacctcgccatactGggtgcagtaggtctcaggct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:209823319_209823319TG>T	uc001hhg.3	-	1	563	c.173_173CA>A	c.(172-174)cagfs	p.Q58fs	LAMB3_uc009xco.3_Frame_Shift_Del_p.Q58fs|LAMB3_uc001hhh.3_Frame_Shift_Del_p.Q58fs|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Frame_Shift_Del_p.Q58fs	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	58	Laminin N-terminal.				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)		CTCGCCATACTGGGTGCAGTA	0.567													-	209823320	G	-	209823320	7	5	250	1	0	1	0	1	0	0	0	0	8612	1357	47	0	3430	0	LAMB3	1	209823320	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1432610	209823320	39427301	124	124052											
HHAT	55733	broad.mit.edu	37	chr1	210536201	210536201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttttttggtcagaacacGaagaggagctggaccaggaa	12	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:210536201G>A	uc009xcx.2	+	3	263	c.97G>A	c.(97-99)GAA>AAA	p.E33K	HHAT_uc010psq.1_Missense_Mutation_p.E33K|HHAT_uc001hhz.3_Missense_Mutation_p.E33K|HHAT_uc010psr.1_Missense_Mutation_p.E34K|HHAT_uc010pss.1_Intron|HHAT_uc009xcy.2_Missense_Mutation_p.E33K|HHAT_uc010pst.1_Intron|HHAT_uc010psu.1_Missense_Mutation_p.E33K	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCAGAACACGAAGAGGAGCT	0.398													A	210536201	G	A	210536201	3	1	250	1	0	0	0	0	1	0	0	0	7089	1059	37	1	201	1	HHAT	1	210536201	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	712881	210536201	38714420	125	124053											
KCNH1	3756	broad.mit.edu	37	chr1	211192138	211192138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtacctgactctctctcCcctccagtggtggtggaatc	10	13	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:211192138C>T	uc001hib.2	-	6	1189	c.1019G>A	c.(1018-1020)GGG>GAG	p.G340E	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	340	Extracellular (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACTCTCTCTCCCCTCCAGTGG	0.438													T	211192138	C	T	211192138	3	4	250	1	0	0	0	0	1	0	0	0	8031	623	22	4	1974	4	KCNH1	1	211192138	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	655937	211192138	38058483	126	124054											
CENPF	1063	broad.mit.edu	37	chr1	214815734	214815734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttaaaatattaaatgaTgacagtggtcttctccatgg	9	5	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:214815734T>C	uc001hkm.2	+	12	4227	c.4053T>C	c.(4051-4053)GAT>GAC	p.D1351D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TATTAAATGATGACAGTGGTC	0.408													C	214815734	T	C	214815734	2	2	250	1	0	0	0	0	0	0	0	1	3231	1461	51	3		3	CENPF	1	214815734	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	3623596	214815734	34434887	127	124055											
KCTD3	51133	broad.mit.edu	37	chr1	215785202	215785202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacgatcaacaggtgtttAtccagaaagttgttcccatc	9	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:215785202A>G	uc001hks.2	+	15	1795	c.1501A>G	c.(1501-1503)ATC>GTC	p.I501V	KCTD3_uc001hkt.2_Missense_Mutation_p.I501V|KCTD3_uc010pub.1_Missense_Mutation_p.I399V|KCTD3_uc009xdn.2_Missense_Mutation_p.I225V	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	501						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ACAGGTGTTTATCCAGAAAGT	0.308													G	215785202	A	G	215785202	3	3	250	1	0	0	0	0	1	0	0	0	8110	449	16	3	1559	3	KCTD3	1	215785202	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	969468	215785202	33465419	128	124056											
SUSD4	55061	broad.mit.edu	37	chr1	223396620	223396620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcgatgcctgggctggtgGatgccacctcctctgccgtg	14	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:223396620G>A	uc001hnx.2	-	7	2049	c.1415C>T	c.(1414-1416)TCC>TTC	p.S472F	SUSD4_uc001hny.3_Missense_Mutation_p.S472F|SUSD4_uc010puw.1_Missense_Mutation_p.S312F	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	472	Cytoplasmic (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		TGGGCTGGTGGATGCCACCTC	0.587													A	223396620	G	A	223396620	3	1	250	1	0	0	0	0	1	0	0	0	15407	1174	41	4	65	4	SUSD4	1	223396620	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7611418	223396620	25854001	129	124057											
OBSCN	84033	broad.mit.edu	37	chr1	228550291	228550291	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacagacaccaccctggagCgagcggaccaggaggtcaca	12	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:228550291C>T	uc009xez.1	+	80	18720	c.18676C>T	c.(18676-18678)CGA>TGA	p.R6226*	OBSCN_uc001hsr.1_Nonsense_Mutation_p.R855*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6226					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CACCCTGGAGCGAGCGGACCA	0.677													T	228550291	C	T	228550291	4	4	250	1	0	0	0	0	0	1	0	0	10812	760	27	1	20200	1	OBSCN	1	228550291	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5153671	228550291	20700330	130	124058											
TRIM11	81559	broad.mit.edu	37	chr1	228584848	228584848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgggttcgtacctgcGcagggcgtccttgatgtcct	15	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:228584848G>A	uc001hss.2	-	4	1009	c.754C>T	c.(754-756)CGC>TGC	p.R252C	TRIM11_uc010pvx.1_Missense_Mutation_p.R251C|TRIM11_uc001hst.1_Missense_Mutation_p.R252C	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	tripartite motif-containing 11	252					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			lung(3)|ovary(1)	4		Prostate(94;0.0724)				TCGTACCTGCGCAGGGCGTCC	0.652													A	228584848	G	A	228584848	3	1	250	1	0	0	0	0	1	0	0	0	16484	1087	38	1	664	1	TRIM11	1	228584848	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	34557	228584848	20665773	131	124059											
GALNT2	2590	broad.mit.edu	37	chr1	230372444	230372444	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaaaattgagaaagtgCgagttcttagaaatgatcga	13	3	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:230372444C>T	uc010pwa.1	+	6	652	c.580C>T	c.(580-582)CGA>TGA	p.R194*	GALNT2_uc010pvy.1_Nonsense_Mutation_p.R156*|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	194	Lumenal (Potential).|Catalytic subdomain A.				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			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGAAAGTGCGAGTTCTTAG	0.403													T	230372444	C	T	230372444	4	4	250	1	0	0	0	0	0	1	0	0	6213	760	27	1	602	1	GALNT2	1	230372444	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1787596	230372444	18878177	132	124060											
TTC13	79573	broad.mit.edu	37	chr1	231067185	231067185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccctttcatatactggcAcacttcattatatggctcta	6	11	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:231067185A>G	uc001huf.3	-	11	1190	c.1159T>C	c.(1159-1161)TGC>CGC	p.C387R	TTC13_uc009xfi.2_Missense_Mutation_p.C334R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.C334R|TTC13_uc009xfk.1_Missense_Mutation_p.C277R	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	387	TPR 7.						binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATACTGGCACACTTCATTA	0.413													G	231067185	A	G	231067185	3	3	250	1	0	0	0	0	1	0	0	0	16677	159	6	3	1475	3	TTC13	1	231067185	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	694741	231067185	18183436	133	124061											
EXOC8	149371	broad.mit.edu	37	chr1	231472660	231472660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggccctcttggtgtcctCcagcacttccagccactctc	9	17	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:231472660C>T	uc001huq.2	-	1	919	c.832G>A	c.(832-834)GAG>AAG	p.E278K		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	278	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTGGTGTCCTCCAGCACTTCC	0.577													T	231472660	C	T	231472660	3	4	250	1	0	0	0	0	1	0	0	0	5311	864	30	4	1349	4	EXOC8	1	231472660	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	405475	231472660	17777961	134	124062											
LYST	1130	broad.mit.edu	37	chr1	235884029	235884029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtataaatgggaacacAggatactgcatgagatcatt	10	6	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:235884029A>G	uc001hxj.2	-	40	9667	c.9492T>C	c.(9490-9492)CCT>CCC	p.P3164P	LYST_uc001hxi.2_Silent_p.P388P	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3164	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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			ATGGGAACACAGGATACTGCA	0.363									Chediak-Higashi_syndrome				G	235884029	A	G	235884029	2	3	250	1	0	0	0	0	0	0	0	1	9128	175	7	3		3	LYST	1	235884029	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	4411369	235884029	13366592	135	124063											
HEATR1	55127	broad.mit.edu	37	chr1	236721600	236721600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgctatgcacagcagcGcgcttcccaggacattcttc	8	16	2	0	rs143495736	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:236721600G>A	uc001hyd.1	-	36	5266	c.5141C>T	c.(5140-5142)GCG>GTG	p.A1714V	HEATR1_uc009xgh.1_Missense_Mutation_p.A876V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1714					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACAGCAGCGCGCTTCCCAG	0.562													A	236721600	G	A	236721600	3	1	250	1	0	0	0	0	1	0	0	0	7027	1087	38	1	1333	1	HEATR1	1	236721600	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	837571	236721600	12529021	136	124064											
FMN2	56776	broad.mit.edu	37	chr1	240256069	240256069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccagctccagcaacaGcagcagcagcagcagctcca	9	17	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:240256069G>A	uc010pyd.1	+	1	885	c.660G>A	c.(658-660)CAG>CAA	p.Q220Q	FMN2_uc010pye.1_Silent_p.Q220Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	220	Potential.|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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			tccagcaacagcagcagcagc	0.468													A	240256069	G	A	240256069	2	1	250	1	0	0	0	0	0	0	0	1	5950	962	34	2		2	FMN2	1	240256069	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3534469	240256069	8994552	137	124065											
CEP170	9859	broad.mit.edu	37	chr1	243349656	243349656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcctcaagagttgcacGtttgctacagcgcctgtgag	12	10	1	2	rs151038677	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:243349656G>A	uc001hzs.2	-	9	1585	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C	CEP170_uc001hzt.2_Missense_Mutation_p.R393C|CEP170_uc001hzu.2_Missense_Mutation_p.R393C	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	393						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			AGAGTTGCACGTTTGCTACAG	0.438													A	243349656	G	A	243349656	3	1	250	1	0	0	0	0	1	0	0	0	3250	1145	40	1	3655	1	CEP170	1	243349656	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3093587	243349656	5900965	138	124066											
AKT3	10000	broad.mit.edu	37	chr1	243809301	243809301	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcttcttgcctctgcagtCtgtctgctacagcctggata	8	14	5	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:243809301C>A	uc001iab.1	-	4	404	c.323G>T	c.(322-324)AGA>ATA	p.R108I	AKT3_uc001hzz.1_Missense_Mutation_p.R108I	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	108					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)			CCTCTGCAGTCTGTCTGCTAC	0.363													A	243809301	C	A	243809301	3	1	250	1	0	0	0	0	1	0	0	0	481	913	32	5	1204	5	AKT3	1	243809301	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	459645	243809301	5441320	139	124067											
C1orf101	257044	broad.mit.edu	37	chr1	244724287	244724287	+	Frame_Shift_Del	DEL	T	T	-													gacagtgttaccatgccacaTtttacattttcagcactgcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:244724286_244724286AT>A	uc001iam.3	+	9	1405	c.1346_1346AT>A	c.(1345-1347)catfs	p.H449fs	C1orf101_uc001iak.1_Frame_Shift_Del_p.H3fs|C1orf101_uc001ial.3_Frame_Shift_Del_p.H449fs|C1orf101_uc010pym.2_Frame_Shift_Del_p.H298fs|C1orf101_uc010pyn.2_Frame_Shift_Del_p.H382fs	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	449						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)			ACCATGCCACATTTTACATTT	0.358													-	244724287	T	-	244724287	7	5	250	1	0	1	0	1	0	0	0	0	1976	1490	52	0	1385	0	C1orf101	1	244724287	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	914986	244724287	4526334	140	124068											
KIF26B	55083	broad.mit.edu	37	chr1	245583006	245583006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctcctgcgtggccagcgaGacttccacaggcacatcggt	13	14	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:245583006G>A	uc001ibf.1	+	4	1565	c.1125G>A	c.(1123-1125)GAG>GAA	p.E375E	KIF26B_uc010pyq.1_Silent_p.E375E	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	375					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			TGGCCAGCGAGACTTCCACAG	0.602													A	245583006	G	A	245583006	2	1	250	1	0	0	0	0	0	0	0	1	8295	933	33	4		4	KIF26B	1	245583006	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	858719	245583006	3667615	141	124069											
SMYD3	64754	broad.mit.edu	37	chr1	245912889	245912889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctctgatgttggcgtcGcattcttctaaaagtagaat	10	7	3	2	rs139195102	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:245912889G>A	uc001ibl.2	-	12	1358	c.1263C>T	c.(1261-1263)TGC>TGT	p.C421C	SMYD3_uc001ibk.2_Silent_p.C362C|SMYD3_uc001ibi.2_3'UTR|SMYD3_uc001ibj.2_Silent_p.C232C	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	421						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TGTTGGCGTCGCATTCTTCTA	0.433													A	245912889	G	A	245912889	2	1	250	1	0	0	0	0	0	0	0	1	14823	1079	38	1		1	SMYD3	1	245912889	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	329883	245912889	3337732	142	124070											
OR2M3	127062	broad.mit.edu	37	chr1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctttgttcatgtacataCggcccacatctgatcgctcc	7	14	2	1	rs147728074	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr1:248367150C>T	uc010pzg.1	+	1	781	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			CATGTACATACGGCCCACATC	0.502													T	248367150	C	T	248367150	3	4	250	1	0	0	0	0	1	0	0	0	11011	527	19	1	783	1	OR2M3	1	248367150	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2454261	248367150	883471	143	124071											
PXDN	7837	broad.mit.edu	37	chr2	1653138	1653138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgggtgtgacggtctccGtcccgatcagggtggtggac	17	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:1653138G>A	uc002qxa.2	-	17	2478	c.2414C>T	c.(2413-2415)ACG>ATG	p.T805M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	805					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			pancreas(6)|ovary(2)	8	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)		GACGGTCTCCGTCCCGATCAG	0.652													A	1653138	G	A	1653138	3	1	250	1	0	0	0	0	1	0	0	0	12847	1145	40	1	2053	1	PXDN	2	1653138	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		1653138	241546235	144	124072											
TTC15	51112	broad.mit.edu	37	chr2	3483101	3483101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactacctgcacgagagcGtgctcttcaacctgaccacc	9	16	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:3483101G>A	uc002qxm.1	+	12	2283	c.2077G>A	c.(2077-2079)GTG>ATG	p.V693M	TTC15_uc002qxn.1_Missense_Mutation_p.V693M|TTC15_uc010ewm.1_Intron	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	693							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		GCACGAGAGCGTGCTCTTCAA	0.637													A	3483101	G	A	3483101	3	1	250	1	0	0	0	0	1	0	0	0	16679	1145	40	1	2119	1	TTC15	2	3483101	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1829963	3483101	239716272	145	124073											
MBOAT2	129642	broad.mit.edu	37	chr2	9098636	9098637	+	Frame_Shift_Ins	INS	-	-	A													attacttaccatccaaagcaINSaaaaagtgcaagataaaggc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:9098635_9098636C>CA	uc002qzg.1	-	1	344_345	c.211_212G>TG	c.(211-213)tgcfs	p.C71fs	MBOAT2_uc010yix.1_Frame_Shift_Ins_p.C71fs	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	71					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.C71S(2)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCCAAAGCAAAAAAGTGCA	0.337													A	9098637	-	A	9098636	7	5	250	1	0	1	1	0	0	0	0	0	9357	130	5	0	1399	0	MBOAT2	2	9098636	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	5615535	9098636	234100737	146	124074											
ADAM17	6868	broad.mit.edu	37	chr2	9642351	9642353	+	In_Frame_Del	DEL	CTT	CTT	-													gcattaatcgcctcctggcaCttcttctgggcagtctcaaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:9642350_9642352ACTT>A	uc002qzu.3	-	12	1781_1783	c.1598_1600AAGT>T	c.(1597-1602)aagtgc>aTgc	p.533_534KC>M	ADAM17_uc010ewy.3_In_Frame_Del_p.533_534KC>M|ADAM17_uc010ewz.3_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	533	Disintegrin.				B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GCCTCCTGGCACTTCTTCTGGGC	0.483													-	9642353	CTT	-	9642351	7	5	250	1	0	1	0	1	0	0	0	0	238	564	20	0	903	0	ADAM17	2	9642351	In_Frame_Del	DEL	CTT	TCGA-HF-7132-01A-11D-2053-08	543715	9642351	233557022	147	124075											
YWHAQ	10971	broad.mit.edu	37	chr2	9728377	9728377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaagagcaagccccaggcGgattgggtgtgtgggttgca	17	7	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:9728377G>A	uc002qzw.2	-	3	663	c.499C>T	c.(499-501)CGC>TGC	p.R167C	YWHAQ_uc002qzx.2_Missense_Mutation_p.R167C	NM_006826	NP_006817	P27348	1433T_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	167					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		AGCCCCAGGCGGATTGGGTGT	0.428													A	9728377	G	A	9728377	3	1	250	1	0	0	0	0	1	0	0	0	17502	1116	39	1	250	1	YWHAQ	2	9728377	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	86026	9728377	233470996	148	124076											
ROCK2	9475	broad.mit.edu	37	chr2	11332391	11332391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctgggggctttttaGgtatctttttcaccaaccga	11	9	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:11332391G>T	uc002rbd.1	-	32	4495	c.4046C>A	c.(4045-4047)CCT>CAT	p.P1349H		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1349	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GGGCTTTTTAGGTATCTTTTT	0.413													T	11332391	G	T	11332391	3	4	250	1	0	0	0	0	1	0	0	0	13518	1000	35	5	128	5	ROCK2	2	11332391	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1604014	11332391	231866982	149	124077											
ROCK2	9475	broad.mit.edu	37	chr2	11367448	11367448	+	Frame_Shift_Del	DEL	C	C	-													ctcgcccatagaaaccatcaCccccttgtgatttcagaacc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:11367447_11367447AC>A	uc002rbd.1	-	5	1250	c.801_801GT>T	c.(799-801)ggtfs	p.G267fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	267	Protein kinase.				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)		AGAAACCATCACCCCCTTGTG	0.398													-	11367448	C	-	11367448	7	5	250	1	0	1	0	1	0	0	0	0	13518	507	18	0	3478	0	ROCK2	2	11367448	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	35057	11367448	231831925	150	124078											
ITSN2	50618	broad.mit.edu	37	chr2	24484521	24484521	+	Frame_Shift_Del	DEL	T	T	-													ttcattttcacttgatggcaTtttttctacataattgcatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:24484520_24484520AT>A	uc002rfe.2	-	20	2705	c.2447_2447AT>T	c.(2446-2448)atgfs	p.M816fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.M789fs|ITSN2_uc002rfg.3_Frame_Shift_Del_p.M816fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	816	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			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)					ACTTGATGGCATTTTTTCTAC	0.378													-	24484521	T	-	24484521	7	5	250	1	0	1	0	1	0	0	0	0	7927	1493	52	0	2778	0	ITSN2	2	24484521	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	13117073	24484521	218714852	151	124079											
NCOA1	8648	broad.mit.edu	37	chr2	24930502	24930502	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatctacttctgtgtcagtGactggacaggtacaaggaaa	11	8	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:24930502G>T	uc002rfk.2	+	11	2421	c.2163G>T	c.(2161-2163)GTG>GTT	p.V721V	NCOA1_uc010eye.2_Silent_p.V721V|NCOA1_uc002rfi.2_Silent_p.V570V|NCOA1_uc002rfj.2_Silent_p.V721V|NCOA1_uc002rfl.2_Silent_p.V721V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	721									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGTCAGTGACTGGACAGG	0.423			T	PAX3	alveolar rhadomyosarcoma								T	24930502	G	T	24930502	2	4	250	1	0	0	0	0	0	0	0	1	10228	1277	45	5		5	NCOA1	2	24930502	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	445981	24930502	218268871	152	124080											
C2orf79	391356	broad.mit.edu	37	chr2	25013338	25013338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttccttggggtagggcCggagagcaatacaagtggcg	15	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:25013338C>T	uc002rfm.2	-	2	370	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	CENPO_uc002rfn.2_5'Flank|CENPO_uc002rfo.1_5'Flank|CENPO_uc002rfp.1_5'Flank|CENPO_uc002rfq.1_5'Flank	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN	hypothetical protein LOC391356	122					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity				0						GGGGTAGGGCCGGAGAGCAAT	0.502													T	25013338	C	T	25013338	3	4	250	1	0	0	0	0	1	0	0	0	2196	652	23	1	61	1	C2orf79	2	25013338	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	82836	25013338	218186035	153	124081											
DNMT3A	1788	broad.mit.edu	37	chr2	25463308	25463308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaactcaaagaagagccGgccagtgccctctgagaggt	13	10	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:25463308G>A	uc002rgc.2	-	19	2442	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	DNMT3A_uc002rgd.2_Missense_Mutation_p.R729W|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R540W	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	729					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R729Q(1)|p.R729W(1)		haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGAGCCGGCCAGTGCCC	0.612			Mis|F|N|S		AML								A	25463308	G	A	25463308	3	1	250	1	0	0	0	0	1	0	0	0	4676	1115	39	1	573	1	DNMT3A	2	25463308	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	449970	25463308	217736065	154	124082											
DTNB	1838	broad.mit.edu	37	chr2	25611181	25611181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactggcatgggcattggcCggccgcctccatgggtgggc	17	13	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:25611181C>T	uc002rgh.2	-	17	1875	c.1625G>A	c.(1624-1626)CGG>CAG	p.R542Q	DTNB_uc002rgg.2_Missense_Mutation_p.R171Q|DTNB_uc010yko.1_Missense_Mutation_p.R478Q|DTNB_uc010ykp.1_Missense_Mutation_p.R331Q|DTNB_uc002rgo.2_Missense_Mutation_p.R326Q|DTNB_uc002rgi.2_Missense_Mutation_p.R542Q|DTNB_uc002rgj.2_Missense_Mutation_p.R542Q|DTNB_uc002rgk.2_Missense_Mutation_p.R512Q|DTNB_uc002rgl.2_Missense_Mutation_p.R505Q|DTNB_uc002rgq.2_Missense_Mutation_p.R535Q|DTNB_uc002rgm.2_Missense_Mutation_p.R505Q|DTNB_uc002rgn.2_Missense_Mutation_p.R331Q|DTNB_uc002rgp.1_Missense_Mutation_p.R40Q	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	542						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCATTGGCCGGCCGCCTCC	0.622													T	25611181	C	T	25611181	3	4	250	1	0	0	0	0	1	0	0	0	4789	652	23	1	274	1	DTNB	2	25611181	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	147873	25611181	217588192	155	124083											
RAB10	10890	broad.mit.edu	37	chr2	26350067	26350067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaacaagtgtgatatggacGacaaaagagttgtacctaaa	10	5	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:26350067G>A	uc002rgv.2	+	4	1131	c.382G>A	c.(382-384)GAC>AAC	p.D128N		NM_016131	NP_057215	P61026	RAB10_HUMAN	ras-related GTP-binding protein RAB10	128					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATATGGACGACAAAAGAGT	0.318													A	26350067	G	A	26350067	3	1	250	1	0	0	0	0	1	0	0	0	12890	1058	37	1	396	1	RAB10	2	26350067	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	738886	26350067	216849306	156	124084											
OTOF	9381	broad.mit.edu	37	chr2	26700603	26700603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcatctcctgtatgtcGttcaggccttcttcctgtga	8	11	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:26700603G>A	uc002rhk.2	-	19	2356	c.2229C>T	c.(2227-2229)AAC>AAT	p.N743N	OTOF_uc002rhh.2_Translation_Start_Site|OTOF_uc002rhi.2_Silent_p.N53N|OTOF_uc002rhj.2_Translation_Start_Site	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	743	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTATGTCGTTCAGGCCTT	0.617													A	26700603	G	A	26700603	2	1	250	1	0	0	0	0	0	0	0	1	11303	1136	40	1		1	OTOF	2	26700603	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	350536	26700603	216498770	157	124085											
EMILIN1	11117	broad.mit.edu	37	chr2	27306220	27306220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccaagaggaactaggccGccttcgggatggtgtggagc	16	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27306220G>A	uc002rii.3	+	4	2209	c.1781G>A	c.(1780-1782)CGC>CAC	p.R594H	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	594	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTAGGCCGCCTTCGGGAT	0.697													A	27306220	G	A	27306220	3	1	250	1	0	0	0	0	1	0	0	0	5093	1087	38	1	1795	1	EMILIN1	2	27306220	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	605617	27306220	215893153	158	124086											
CAD	790	broad.mit.edu	37	chr2	27454356	27454356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagtcatgggcattgggCgttcatttgaggaggccttc	15	7	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27454356C>T	uc002rji.2	+	16	2470	c.2308C>T	c.(2308-2310)CGT>TGT	p.R770C	CAD_uc010eyw.2_Missense_Mutation_p.R707C	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	770	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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGGCATTGGGCGTTCATTTGA	0.512													T	27454356	C	T	27454356	3	4	250	1	0	0	0	0	1	0	0	0	2565	768	27	1	2370	1	CAD	2	27454356	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	148136	27454356	215745017	159	124087											
GTF3C2	2976	broad.mit.edu	37	chr2	27552352	27552352	+	Frame_Shift_Del	DEL	G	G	-													agagagccgtatccgctgcaGgggtgagttagtgggaaggt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27552351_27552351AG>A	uc002rju.1	-	12	2202	c.1805_1805CT>T	c.(1804-1806)ctgfs	p.L602fs	GTF3C2_uc010eyy.1_Frame_Shift_Del_p.L46fs|GTF3C2_uc002rjv.1_Frame_Shift_Del_p.L591fs|GTF3C2_uc002rjw.1_Frame_Shift_Del_p.L591fs	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	591						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)					TATCCGCTGCAGGGGTGAGTT	0.488													-	27552352	G	-	27552352	7	5	250	1	0	1	0	1	0	0	0	0	6873	991	35	0	992	0	GTF3C2	2	27552352	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	97996	27552352	215647021	160	124088											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27890237	27890237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccaaaaaggctctccAaggcttttttgaccgagaag	10	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:27890237A>G	uc002rlk.3	+	3	1406	c.1124A>G	c.(1123-1125)CAA>CGA	p.Q375R		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	375						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					AAGGCTCTCCAAGGCTTTTTT	0.418													G	27890237	A	G	27890237	3	3	250	1	0	0	0	0	1	0	0	0	14653	130	5	3	1134	3	SLC4A1AP	2	27890237	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	337885	27890237	215309136	161	124089											
CLIP4	79745	broad.mit.edu	37	chr2	29404460	29404460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagctgctttgcgtcgcAgttggagcagcacccccacc	11	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:29404460A>G	uc002rmv.2	+	16	2058	c.1819A>G	c.(1819-1821)AGT>GGT	p.S607G	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	607										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTTGCGTCGCAGTTGGAGCAG	0.522													G	29404460	A	G	29404460	3	3	250	1	0	0	0	0	1	0	0	0	3535	188	7	3	1877	3	CLIP4	2	29404460	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1514223	29404460	213794913	162	124090											
LCLAT1	253558	broad.mit.edu	37	chr2	30791031	30791031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttacttttgtggtagaccGtctaagagaaggtaagcacc	10	8	1	2	rs139333259	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:30791031G>A	uc002rnj.2	+	6	940	c.731G>A	c.(730-732)CGT>CAT	p.R244H	LCLAT1_uc010ymp.1_Missense_Mutation_p.R82H|LCLAT1_uc002rnk.1_Missense_Mutation_p.R244H|LCLAT1_uc002rnl.2_Missense_Mutation_p.R206H|LCLAT1_uc010ymq.1_Missense_Mutation_p.R206H	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	244					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						GTGGTAGACCGTCTAAGAGAA	0.328													A	30791031	G	A	30791031	3	1	250	1	0	0	0	0	1	0	0	0	8677	1145	40	1	749	1	LCLAT1	2	30791031	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1386571	30791031	212408342	163	124091											
FAM98A	25940	broad.mit.edu	37	chr2	33810391	33810391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagccacctctccctcctcCtcggcctcctgtttgctgct	6	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:33810391C>T	uc002rpa.1	-	8	1083	c.1009G>A	c.(1009-1011)GGA>AGA	p.G337R	FAM98A_uc010yne.1_Missense_Mutation_p.G142R|FAM98A_uc010ynd.1_Missense_Mutation_p.G168R|FAM98A_uc002roz.1_Missense_Mutation_p.G175R	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	338	Gly-rich.			G -> V (in Ref. 2; CAB43217).						ovary(1)	1	all_hematologic(175;0.115)					CTCCCTCCTCCTCGGCCTCCT	0.587													T	33810391	C	T	33810391	3	4	250	1	0	0	0	0	1	0	0	0	5656	690	24	4	551	4	FAM98A	2	33810391	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3019360	33810391	209388982	164	124092											
STRN	6801	broad.mit.edu	37	chr2	37113870	37113870	+	Missense_Mutation	SNP	T	T	C													tccacttactcttcacccccTttttcccctttctctccttt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:37113870T>C	uc002rpn.2	-	8	1040	c.1031A>G	c.(1030-1032)AAG>AGG	p.K344R	STRN_uc010ezx.2_Intron	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	344					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTTCACCCCCTTTTTCCCCTT	0.388													C	37113870	T	C	37113870	3	2	250	1	0	0	0	0	1	0	0	0	15328	1609	56	3	1355	3	STRN	2	37113870	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	3303479	37113870	206085503	165	124093	648	2									
STRN	6801	broad.mit.edu	37	chr2	37113874	37113874	+	Missense_Mutation	SNP	T	T	C													cttactcttcacccccttttTcccctttctctcctttttgt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:37113874T>C	uc002rpn.2	-	8	1036	c.1027A>G	c.(1027-1029)AAA>GAA	p.K343E	STRN_uc010ezx.2_Intron	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	343					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACCCCCTTTTTCCCCTTTCTC	0.383													C	37113874	T	C	37113874	3	2	250	1	0	0	0	0	1	0	0	0	15328	1792	62	3	1359	3	STRN	2	37113874	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4	37113874	206085499	166	124094	648	2									
PLEKHH2	130271	broad.mit.edu	37	chr2	43973034	43973034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attatttccaaatgggaacaGgcttccaaagaacagcagcc	8	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:43973034G>T	uc010yny.1	+	24	3668	c.3585G>T	c.(3583-3585)CAG>CAT	p.Q1195H		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1195	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGGGAACAGGCTTCCAAAG	0.383													T	43973034	G	T	43973034	3	4	250	1	0	0	0	0	1	0	0	0	12077	991	35	5	3675	5	PLEKHH2	2	43973034	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6859160	43973034	199226339	167	124095											
ABCG5	64240	broad.mit.edu	37	chr2	44053638	44053638	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtccaggcctgtggtTggctcatcaaacagcatgac	11	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:44053638T>C	uc002rtn.2	-	6	797	c.657A>G	c.(655-657)CCA>CCG	p.P219P	ABCG5_uc002rtm.2_Intron|ABCG5_uc002rto.2_Intron|ABCG5_uc002rtp.2_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	219	ABC transporter.|Cytoplasmic (Potential).				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			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCCTGTGGTTGGCTCATCAA	0.532													C	44053638	T	C	44053638	2	2	250	1	0	0	0	0	0	0	0	1	71	1799	63	3		3	ABCG5	2	44053638	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	80604	44053638	199145735	168	124096											
SLC3A1	6519	broad.mit.edu	37	chr2	44540984	44540984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgacatagaatacccttcGctcaaagtcaccaatgcagt	6	11	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:44540984G>A	uc002ruc.3	+	9	1589	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	SLC3A1_uc002rua.2_Missense_Mutation_p.R504H|SLC3A1_uc002rub.2_Missense_Mutation_p.R504H|SLC3A1_uc002rud.3_Missense_Mutation_p.R226H|SLC3A1_uc002rue.3_Missense_Mutation_p.R124H	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	504	Extracellular (Potential).				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				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AATACCCTTCGCTCAAAGTCA	0.373													A	44540984	G	A	44540984	3	1	250	1	0	0	0	0	1	0	0	0	14626	1087	38	1	1545	1	SLC3A1	2	44540984	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	487346	44540984	198658389	169	124097											
TTC7A	57217	broad.mit.edu	37	chr2	47233862	47233862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggtggcttgtgggaAggtaaggcccagggggcgct	18	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:47233862A>G	uc002rvo.2	+	10	1654	c.1286A>G	c.(1285-1287)AAG>AGG	p.K429R	TTC7A_uc002rvm.2_Missense_Mutation_p.K395R|TTC7A_uc002rvn.1_Missense_Mutation_p.K310R|TTC7A_uc010fbb.2_Missense_Mutation_p.K429R|TTC7A_uc010fbc.2_Missense_Mutation_p.K75R|TTC7A_uc002rvp.2_Missense_Mutation_p.K310R|TTC7A_uc002rvq.2_Missense_Mutation_p.K169R|TTC7A_uc002rvr.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	429	TPR 3.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTTGTGGGAAGGTAAGGCCC	0.602													G	47233862	A	G	47233862	3	3	250	1	0	0	0	0	1	0	0	0	16709	86	3	3	1324	3	TTC7A	2	47233862	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2692878	47233862	195965511	170	124098											
TTC7A	57217	broad.mit.edu	37	chr2	47251450	47251450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctggcgcccagtgaCccccaggtcatcctctatgt	10	16	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:47251450C>T	uc002rvo.2	+	14	1961	c.1593C>T	c.(1591-1593)GAC>GAT	p.D531D	TTC7A_uc002rvm.2_Silent_p.D497D|TTC7A_uc002rvn.1_Silent_p.D412D|TTC7A_uc010fbb.2_Silent_p.D531D|TTC7A_uc010fbc.2_Silent_p.D177D|TTC7A_uc002rvp.2_Silent_p.D412D|TTC7A_uc002rvq.2_Silent_p.D271D|TTC7A_uc002rvr.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	531	TPR 4.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGCCCAGTGACCCCCAGGTCA	0.642													T	47251450	C	T	47251450	2	4	250	1	0	0	0	0	0	0	0	1	16709	506	18	4		4	TTC7A	2	47251450	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	17588	47251450	195947923	171	124099											
NRXN1	9378	broad.mit.edu	37	chr2	51255042	51255042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagagcgtggtgttgcGgaactggcggcggatgcgca	19	7	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:51255042G>A	uc010fbq.2	-	2	1847	c.370C>T	c.(370-372)CGC>TGC	p.R124C	NRXN1_uc002rxe.3_Missense_Mutation_p.R124C|NRXN1_uc002rxd.1_Missense_Mutation_p.R124C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGGTGTTGCGGAACTGGCGG	0.652													A	51255042	G	A	51255042	3	1	250	1	0	0	0	0	1	0	0	0	10665	1116	39	1	4628	1	NRXN1	2	51255042	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4003592	51255042	191944331	172	124100											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	250	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-HF-7132-01A-11D-2053-08	2912098	54167140	189032233	173	124101											
SPTBN1	6711	broad.mit.edu	37	chr2	54856880	54856880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcgacgagaaggagcAgtggctcaacaacatgcaga	13	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:54856880A>G	uc002rxu.2	+	14	2858	c.2609A>G	c.(2608-2610)CAG>CGG	p.Q870R	SPTBN1_uc002rxv.1_Missense_Mutation_p.Q870R|SPTBN1_uc002rxx.2_Missense_Mutation_p.Q857R	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	870	Spectrin 6.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GAGAAGGAGCAGTGGCTCAAC	0.602													G	54856880	A	G	54856880	3	3	250	1	0	0	0	0	1	0	0	0	15118	188	7	3	2772	3	SPTBN1	2	54856880	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	689740	54856880	188342493	174	124102											
MTIF2	4528	broad.mit.edu	37	chr2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-													aaatatctgactcacctgtgTttttttccattgccctggcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363													-	55489457	T	-	55489457	7	5	250	1	0	1	0	1	0	0	0	0	9934	1725	60	0	1905	0	MTIF2	2	55489457	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	632577	55489457	187709916	175	124103											
USP34	9736	broad.mit.edu	37	chr2	61441427	61441427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttctgaacaataaggCggatattctctggacagtca	11	8	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:61441427C>T	uc002sbe.2	-	68	8472	c.8450G>A	c.(8449-8451)CGC>CAC	p.R2817H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2817					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			AACAATAAGGCGGATATTCTC	0.428													T	61441427	C	T	61441427	3	4	250	1	0	0	0	0	1	0	0	0	17062	768	27	1	2242	1	USP34	2	61441427	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5951970	61441427	181757946	176	124104											
AFTPH	54812	broad.mit.edu	37	chr2	64800123	64800123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactgaaaccactttctgCtgcagaaaaaatagcttcca	5	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:64800123C>T	uc002sdc.2	+	5	2347	c.2315C>T	c.(2314-2316)GCT>GTT	p.A772V	AFTPH_uc002scz.2_Missense_Mutation_p.A772V|AFTPH_uc002sda.2_Missense_Mutation_p.A772V|AFTPH_uc002sdb.2_Missense_Mutation_p.A772V	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	772					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CCACTTTCTGCTGCAGAAAAA	0.408													T	64800123	C	T	64800123	3	4	250	1	0	0	0	0	1	0	0	0	364	797	28	2	2333	2	AFTPH	2	64800123	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3358696	64800123	178399250	177	124105											
SPRED2	200734	broad.mit.edu	37	chr2	65571870	65571870	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagtttgtctttctgtcGttcaccatggatgagaaagc	9	9	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:65571870G>A	uc002sdr.3	-	2	722	c.187C>T	c.(187-189)CGA>TGA	p.R63*	SPRED2_uc010fcw.2_Nonsense_Mutation_p.R60*|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	63	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCTTTCTGTCGTTCACCATGG	0.478													A	65571870	G	A	65571870	4	1	250	1	0	0	0	0	0	1	0	0	15092	1153	40	1	1089	1	SPRED2	2	65571870	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	771747	65571870	177627503	178	124106											
MCEE	84693	broad.mit.edu	37	chr2	71351378	71351378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagccttgtttttctgCagaaaacctgcaattggact	7	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:71351378C>T	uc002shs.2	-	2	381	c.336G>A	c.(334-336)CTG>CTA	p.L112L		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	112					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						TGTTTTTCTGCAGAAAACCTG	0.378													T	71351378	C	T	71351378	2	4	250	1	0	0	0	0	0	0	0	1	9377	697	25	2		2	MCEE	2	71351378	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5779508	71351378	171847995	179	124107											
EXOC6B	23233	broad.mit.edu	37	chr2	72719479	72719479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatattcttccttttaattaCattctgcagagagttgctca	5	8	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:72719479C>A	uc010fep.2	-	16	1771	c.1633G>T	c.(1633-1635)GTA>TTA	p.V545L	EXOC6B_uc002sij.2_Missense_Mutation_p.V545L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	545					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CTTTTAATTACATTCTGCAGA	0.428													A	72719479	C	A	72719479	3	1	250	1	0	0	0	0	1	0	0	0	5309	478	17	5	830	5	EXOC6B	2	72719479	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1368101	72719479	170479894	180	124108											
INO80B	83444	broad.mit.edu	37	chr2	74682557	74682557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctggagttgagcctggCgggtgcccatggccatggag	17	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:74682557C>T	uc002slg.2	+	2	128	c.83C>T	c.(82-84)GCG>GTG	p.A28V	INO80B_uc002slf.1_Missense_Mutation_p.A15V|INO80B_uc010yrr.1_Missense_Mutation_p.A15V|WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.A46V	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	28					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						TTGAGCCTGGCGGGTGCCCAT	0.473													T	74682557	C	T	74682557	3	4	250	1	0	0	0	0	1	0	0	0	7747	768	27	1	89	1	INO80B	2	74682557	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1963078	74682557	168516816	181	124109											
MOGS	7841	broad.mit.edu	37	chr2	74688756	74688756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggggctccagagatgGcggctgtcggctagaatgtc	15	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:74688756G>A	uc010ffj.2	-	4	2323	c.2160C>T	c.(2158-2160)CGC>CGT	p.R720R	MOGS_uc010ffh.2_Silent_p.R445R|MOGS_uc010yrt.1_Silent_p.R601R|MOGS_uc010ffi.2_Silent_p.R614R	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	720	Lumenal (Potential).				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				0						TCCAGAGATGGCGGCTGTCGG	0.597													A	74688756	G	A	74688756	2	1	250	1	0	0	0	0	0	0	0	1	9697	1190	42	2		2	MOGS	2	74688756	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6199	74688756	168510617	182	124110											
C2orf65	130951	broad.mit.edu	37	chr2	74789520	74789521	+	Frame_Shift_Ins	INS	-	-	C													tgtcctgggcccggtggttcINSccccttggctaacagcagcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:74789519_74789520T>TC	uc002smy.3	-	7	1222_1223	c.1105_1106A>GA	c.(1105-1107)gaafs	p.E369fs	C2orf65_uc010ysa.2_Frame_Shift_Ins_p.E369fs|C2orf65_uc010ffp.3_Intron	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	369					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						GCCCGGTGGTTCCCCCTTGGCT	0.52													C	74789521	-	C	74789520	7	5	250	1	0	1	1	0	0	0	0	0	2184	864	30	0	503	0	C2orf65	2	74789520	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	100764	74789520	168409853	183	124111											
FAM176A	84141	broad.mit.edu	37	chr2	75720591	75720592	+	Frame_Shift_Del	DEL	CT	CT	-													tgtcgctgctgtcgctgctgCtctctctgtcctgcaggaac							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:75720590_75720591GCT>G	uc002sni.2	-	3	708_709	c.230_231AGC>C	c.(229-231)agcfs	p.S77fs	FAM176A_uc002snj.1_Frame_Shift_Del_p.S64fs|FAM176A_uc002snk.1_Frame_Shift_Del_p.S77fs	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	77					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						TGTCGCTGCTGCTCTCTCTGTC	0.604													-	75720592	CT	-	75720591	7	5	250	1	0	1	0	1	0	0	0	0	5499	797	28	0	232	0	FAM176A	2	75720591	Frame_Shift_Del	DEL	CT	TCGA-HF-7132-01A-11D-2053-08	931071	75720591	167478782	184	124112											
CTNNA2	1496	broad.mit.edu	37	chr2	80136799	80136799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggctggagagcatcaTcagcggcgcagcgctgatgg	18	9	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:80136799T>C	uc010ysh.1	+	6	937	c.932T>C	c.(931-933)ATC>ACC	p.I311T	CTNNA2_uc010yse.1_Missense_Mutation_p.I311T|CTNNA2_uc010ysf.1_Missense_Mutation_p.I311T|CTNNA2_uc010ysg.1_Missense_Mutation_p.I311T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	311					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGAGCATCATCAGCGGCGCA	0.637													C	80136799	T	C	80136799	3	2	250	1	0	0	0	0	1	0	0	0	4013	1435	50	3		3	CTNNA2	2	80136799	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4416208	80136799	163062574	185	124113											
LRRTM1	347730	broad.mit.edu	37	chr2	80530698	80530698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattaaccccgtgaactggcCggcgcgcagctccgagaggc	13	15	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:80530698C>T	uc002sok.1	-	2	517	c.247G>A	c.(247-249)GGC>AGC	p.G83S	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	83	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTGAACTGGCCGGCGCGCAGC	0.622										HNSCC(69;0.2)			T	80530698	C	T	80530698	3	4	250	1	0	0	0	0	1	0	0	0	9039	652	23	1	1325	1	LRRTM1	2	80530698	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	393899	80530698	162668675	186	124114											
LRRTM1	347730	broad.mit.edu	37	chr2	80530714	80530714	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggccggcgcgcagctccgaGaggctgttgtagcgcaggga	18	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:80530714G>T	uc002sok.1	-	2	501	c.231C>A	c.(229-231)CTC>CTA	p.L77L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	77	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GCAGCTCCGAGAGGCTGTTGT	0.647										HNSCC(69;0.2)			T	80530714	G	T	80530714	2	4	250	1	0	0	0	0	0	0	0	1	9039	929	33	5		5	LRRTM1	2	80530714	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	16	80530714	162668659	187	124115											
TGOLN2	10618	broad.mit.edu	37	chr2	85554262	85554262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttggggtctgatcctccGcacccgacttgctggagccg	12	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:85554262G>A	uc010fgd.1	-	2	882	c.593C>T	c.(592-594)GCG>GTG	p.A198V	TGOLN2_uc002soz.2_Missense_Mutation_p.A198V|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.A198V|TGOLN2_uc002spc.1_Missense_Mutation_p.A198V	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	198	Extracellular (Potential).|14 X 14 AA tandem repeats.|11.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CTGATCCTCCGCACCCGACTT	0.587													A	85554262	G	A	85554262	3	1	250	1	0	0	0	0	1	0	0	0	15833	1087	38	1	732	1	TGOLN2	2	85554262	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5023548	85554262	157645111	188	124116											
ST3GAL5	8869	broad.mit.edu	37	chr2	86075257	86075257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgctcaaataacagcGccattgatgtcttggcaaac	8	11	2	1	rs140019292	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:86075257G>A	uc002sqq.1	-	4	518	c.389C>T	c.(388-390)GCG>GTG	p.A130V	ST3GAL5_uc010fgq.1_Missense_Mutation_p.A2V|ST3GAL5_uc002sqp.1_Missense_Mutation_p.A107V	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	130	Lumenal (Potential).				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				0						AAATAACAGCGCCATTGATGT	0.473													A	86075257	G	A	86075257	3	1	250	1	0	0	0	0	1	0	0	0	15217	1087	38	1	883	1	ST3GAL5	2	86075257	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	520995	86075257	157124116	189	124117											
MAL	4118	broad.mit.edu	37	chr2	95713804	95713804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgttctgcttcgtggCcaccaccaccttgatcatcc	8	15	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:95713804C>G	uc002stx.1	+	2	253	c.194C>G	c.(193-195)GCC>GGC	p.A65G	MAL_uc002sty.1_Intron|MAL_uc002stz.1_Missense_Mutation_p.A65G|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	65	Helical; (Potential).|MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)		TGCTTCGTGGCCACCACCACC	0.612													G	95713804	C	G	95713804	3	3	250	1	0	0	0	0	1	0	0	0	9199	739	26	5	200	5	MAL	2	95713804	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9638547	95713804	147485569	190	124118											
SNRNP200	23020	broad.mit.edu	37	chr2	96943574	96943574	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttcctccgtatctgactGcaactcagcactcagctgca	7	14	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:96943574G>A	uc002svu.2	-	40	5811	c.5725C>T	c.(5725-5727)CAG>TAG	p.Q1909*	SNRNP200_uc002svt.2_Nonsense_Mutation_p.Q519*|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1909	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GTATCTGACTGCAACTCAGCA	0.532													A	96943574	G	A	96943574	4	1	250	1	0	0	0	0	0	1	0	0	14852	1328	46	2	709	2	SNRNP200	2	96943574	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1229770	96943574	146255799	191	124119											
NPAS2	4862	broad.mit.edu	37	chr2	101606731	101606731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccagggtccaaagccaaTgagaagctcacagctaatgc	10	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:101606731T>C	uc002tap.1	+	18	2127	c.1841T>C	c.(1840-1842)ATG>ACG	p.M614T	NPAS2_uc010yvt.1_Missense_Mutation_p.M679T|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	614					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			ovary(3)|upper_aerodigestive_tract(1)	4						CCAAAGCCAATGAGAAGCTCA	0.562													C	101606731	T	C	101606731	3	2	250	1	0	0	0	0	1	0	0	0	10563	1464	51	3	1907	3	NPAS2	2	101606731	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4663157	101606731	141592642	192	124120											
IL1RL1	9173	broad.mit.edu	37	chr2	102959497	102959498	+	Splice_Site	INS	-	-	A													gtccttactcccctctaggaINSaaaaacgcaaacctaacttg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:102959496_102959497G>GA	uc002tbu.1	+	7	954	c.683_splice	c.e7-1	p.G228_splice	IL1RL1_uc010ywa.2_Splice_Site_p.G111_splice|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Splice_Site_p.G228_splice	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	228	Ig-like C2-type 3.				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						TCCCCTCTAGGAAAAAACGCAA	0.386													A	102959498	-	A	102959497	8	5	250	1	0	1	1	0	0	0	1	0	7663	260	9	0	706	0	IL1RL1	2	102959497	Splice_Site	INS	-	TCGA-HF-7132-01A-11D-2053-08	1352766	102959497	140239876	193	124121											
MFSD9	84804	broad.mit.edu	37	chr2	103340244	103340244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagatagccaccgaccacGgggcccaagatgaagcccac	12	14	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:103340244G>A	uc002tcb.2	-	5	620	c.552C>T	c.(550-552)CCC>CCT	p.P184P	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	184	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						CACCGACCACGGGGCCCAAGA	0.493													A	103340244	G	A	103340244	2	1	250	1	0	0	0	0	0	0	0	1	9539	1103	39	1		1	MFSD9	2	103340244	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	380747	103340244	139859129	194	124122											
GPR45	11250	broad.mit.edu	37	chr2	105859047	105859047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcagctcaccagggcGggcctgcggcgcctgcagcg	17	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:105859047G>A	uc002tco.1	+	1	848	c.732G>A	c.(730-732)GCG>GCA	p.A244A		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	244	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TCACCAGGGCGGGCCTGCGGC	0.642													A	105859047	G	A	105859047	2	1	250	1	0	0	0	0	0	0	0	1	6696	1103	39	1		1	GPR45	2	105859047	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2518803	105859047	137340326	195	124123											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460323	107460323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagggagctgggtacaggCtcagcggggttgctgtcggt	20	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:107460323C>A	uc002tdq.2	-	2	230	c.111G>T	c.(109-111)GAG>GAT	p.E37D	ST6GAL2_uc002tdr.2_Missense_Mutation_p.E37D|ST6GAL2_uc002tds.3_Missense_Mutation_p.E37D	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	37	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TGGGTACAGGCTCAGCGGGGT	0.587													A	107460323	C	A	107460323	3	1	250	1	0	0	0	0	1	0	0	0	15221	796	28	5	1585	5	ST6GAL2	2	107460323	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1601276	107460323	135739050	196	124124											
RANBP2	5903	broad.mit.edu	37	chr2	109347310	109347310	+	Frame_Shift_Del	DEL	A	A	-													tcttctttatgaattggaagAaaacacagacaaagccgttg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:109347309_109347309GA>G	uc002tem.4	+	2	346	c.220_220GA>G	c.(220-222)gaafs	p.E74fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	74					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|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						TGAATTGGAAGAAAACACAGA	0.348													-	109347310	A	-	109347310	7	5	250	1	0	1	0	1	0	0	0	0	13028	246	9	0	231	0	RANBP2	2	109347310	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	1886987	109347310	133852063	197	124125											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257061	114257061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagagcacatcgagggCggcggcccgagcgacccctc	14	18	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:114257061C>T	uc002tjw.3	+	1	401	c.228C>T	c.(226-228)GGC>GGT	p.G76G		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	76					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				0						ACATCGAGGGCGGCGGCCCGA	0.677													T	114257061	C	T	114257061	2	4	250	1	0	0	0	0	0	0	0	1	6000	755	27	1		1	FOXD4L1	2	114257061	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4909751	114257061	128942312	198	124126											
MARCO	8685	broad.mit.edu	37	chr2	119752091	119752091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggcgtggagtgcagcGtctgacccggaaaccctttc	13	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:119752091G>A	uc002tln.1	+	17	1690	c.1558G>A	c.(1558-1560)GTC>ATC	p.V520I	MARCO_uc010yyf.1_Missense_Mutation_p.V442I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GGAGTGCAGCGTCTGACCCGG	0.602													A	119752091	G	A	119752091	3	1	250	1	0	0	0	0	1	0	0	0	9311	1145	40	1	1624	1	MARCO	2	119752091	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5495030	119752091	123447282	199	124127											
SMPD4	55627	broad.mit.edu	37	chr2	130912733	130912733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactcggaacaccatgagCgcgtgcttggggctgaccag	14	13	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:130912733C>T	uc002tqq.1	-	15	2026	c.1506G>A	c.(1504-1506)GCG>GCA	p.A502A	SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Silent_p.A241A|SMPD4_uc010yzy.1_Silent_p.A251A|SMPD4_uc010yzz.1_Silent_p.A166A|SMPD4_uc002tqr.1_Silent_p.A473A|SMPD4_uc002tqs.1_Silent_p.A370A|SMPD4_uc002tqt.1_Silent_p.A351A|SMPD4_uc010zaa.1_Silent_p.A360A|SMPD4_uc010zab.1_Silent_p.A400A|SMPD4_uc010zac.1_Silent_p.A243A|SMPD4_uc010zad.1_Silent_p.A138A	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	463					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				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ACACCATGAGCGCGTGCTTGG	0.582													T	130912733	C	T	130912733	2	4	250	1	0	0	0	0	0	0	0	1	14807	755	27	1		1	SMPD4	2	130912733	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	11160642	130912733	112286640	200	124128											
NCKAP5	344148	broad.mit.edu	37	chr2	133540012	133540012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactcacagcatcagtcgCggttgcagaggcatctggat	12	10	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:133540012C>T	uc002ttp.2	-	14	4746	c.4372G>A	c.(4372-4374)GCG>ACG	p.A1458T	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1458							protein binding				0						GCATCAGTCGCGGTTGCAGAG	0.507													T	133540012	C	T	133540012	3	4	250	1	0	0	0	0	1	0	0	0	10223	768	27	1	1385	1	NCKAP5	2	133540012	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2627279	133540012	109659361	201	124129											
MGAT5	4249	broad.mit.edu	37	chr2	135076289	135076289	+	Frame_Shift_Del	DEL	T	T	-													gtggatggatccacctgctcTttttttatttacctcagtga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:135076288_135076288CT>C	uc002ttw.4	+	3	696	c.551_551CT>C	c.(550-552)tctfs	p.S184fs		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	184					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)		TCCACCTGCTCTTTTTTTATT	0.468													-	135076289	T	-	135076289	7	5	250	1	0	1	0	1	0	0	0	0	9548	1596	56	0	566	0	MGAT5	2	135076289	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	1536277	135076289	108123084	202	124130											
LRP1B	53353	broad.mit.edu	37	chr2	141272227	141272227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatacacaacttaccacaaAtgctgtcactttcatctaac	3	12	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:141272227A>G	uc002tvj.1	-	51	9236	c.8264T>C	c.(8263-8265)ATT>ACT	p.I2755T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2755	Extracellular (Potential).|LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CTTACCACAAATGCTGTCACT	0.333										TSP Lung(27;0.18)			G	141272227	A	G	141272227	3	3	250	1	0	0	0	0	1	0	0	0	8955	101	4	3	5699	3	LRP1B	2	141272227	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	6195938	141272227	101927146	203	124131											
LRP1B	53353	broad.mit.edu	37	chr2	141751637	141751638	+	Frame_Shift_Del	DEL	AC	AC	-													catttccaccgagcttggatAcagtgtctgtttttgcagcg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:141751636_141751637TAC>T	uc002tvj.1	-	15	3543_3544	c.2571_2572GTA>A	c.(2569-2574)tgtatcfs	p.C857fs	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	857	LDL-receptor class A 3.				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)		CGAGCTTGGATACAGTGTCTGT	0.421										TSP Lung(27;0.18)			-	141751638	AC	-	141751637	7	5	250	1	0	1	0	1	0	0	0	0	8955	389	14	0	11532	0	LRP1B	2	141751637	Frame_Shift_Del	DEL	AC	TCGA-HF-7132-01A-11D-2053-08	479410	141751637	101447736	204	124132											
ZEB2	9839	broad.mit.edu	37	chr2	145162430	145162430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcccattggcctctgGcgtgccaaggcgagacagct	12	13	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:145162430G>A	uc002tvu.2	-	5	1045	c.565C>T	c.(565-567)CCA>TCA	p.P189S	ZEB2_uc002tvv.2_Missense_Mutation_p.P183S|ZEB2_uc010zbm.1_Missense_Mutation_p.P160S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P218S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	189						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGCCTCTGGCGTGCCAAGG	0.512													A	145162430	G	A	145162430	3	1	250	1	0	0	0	0	1	0	0	0	17621	1203	42	2	3103	2	ZEB2	2	145162430	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3410793	145162430	98036943	205	124133											
KCNJ3	3760	broad.mit.edu	37	chr2	155711593	155711593	+	Frame_Shift_Del	DEL	A	A	-													gatgagttctacaacttcagAaaaagcctacagcttgggag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:155711592_155711592GA>G	uc002tyv.1	+	2	1468	c.1273_1273GA>G	c.(1273-1275)gaafs	p.E425fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	425					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)	TACAACTTCAGAAAAAGCCTA	0.388													-	155711593	A	-	155711593	7	5	250	1	0	1	0	1	0	0	0	0	8052	246	9	0	1284	0	KCNJ3	2	155711593	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	10549163	155711593	87487780	206	124134											
TANC1	85461	broad.mit.edu	37	chr2	160042391	160042391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttggccaccacatccTgaaggcgcacattttcaagg	11	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:160042391T>C	uc002uag.2	+	15	2874	c.2600T>C	c.(2599-2601)CTG>CCG	p.L867P	TANC1_uc010zcm.1_Missense_Mutation_p.L859P|TANC1_uc010fom.1_Missense_Mutation_p.L673P	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	867						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CACCACATCCTGAAGGCGCAC	0.512													C	160042391	T	C	160042391	3	2	250	1	0	0	0	0	1	0	0	0	15541	1580	55	3	2650	3	TANC1	2	160042391	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4330798	160042391	83156982	207	124135											
KCNH7	90134	broad.mit.edu	37	chr2	163250908	163250908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaattacctttctctcCttcactttcaaatgacaatt	3	10	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:163250908C>T	uc002uch.1	-	12	2913	c.2701G>A	c.(2701-2703)GGA>AGA	p.G901R		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	901	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	CCTTTCTCTCCTTCACTTTCA	0.343													T	163250908	C	T	163250908	3	4	250	1	0	0	0	0	1	0	0	0	8037	690	24	4	909	4	KCNH7	2	163250908	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3208517	163250908	79948465	208	124136											
CSRNP3	80034	broad.mit.edu	37	chr2	166514422	166514422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtccagccgccataacagCgtgcgccagtacactcttgg	10	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:166514422C>T	uc002udf.2	+	5	676	c.300C>T	c.(298-300)AGC>AGT	p.S100S	CSRNP3_uc002udg.2_Silent_p.S100S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	100					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						GCCATAACAGCGTGCGCCAGT	0.552													T	166514422	C	T	166514422	2	4	250	1	0	0	0	0	0	0	0	1	3965	767	27	1		1	CSRNP3	2	166514422	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3263514	166514422	76684951	209	124137											
SCN1A	6323	broad.mit.edu	37	chr2	166903335	166903335	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgctgaaattcggccTctttctgttctgcttcttcc	6	13	6	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:166903335T>A	uc010zcz.1	-	9	1340	c.1322A>T	c.(1321-1323)GAG>GTG	p.E441V	SCN1A_uc002udo.3_Missense_Mutation_p.E310V|SCN1A_uc010fpk.2_Missense_Mutation_p.E310V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	441	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAATTCGGCCTCTTTCTGTTC	0.473													A	166903335	T	A	166903335	3	1	250	1	0	0	0	0	1	0	0	0	13914	1551	54	5	4779	5	SCN1A	2	166903335	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	388913	166903335	76296038	210	124138											
SCN7A	6332	broad.mit.edu	37	chr2	167288977	167288977	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttcagtagcgtttttctCtgtgccactgcttttttcct	6	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:167288977C>A	uc002udu.1	-	15	2570	c.2443G>T	c.(2443-2445)GAG>TAG	p.E815*	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	815					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						GCGTTTTTCTCTGTGCCACTG	0.373													A	167288977	C	A	167288977	4	1	250	1	0	0	0	0	0	1	0	0	13923	922	32	5	2649	5	SCN7A	2	167288977	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	385642	167288977	75910396	211	124139											
XIRP2	129446	broad.mit.edu	37	chr2	168105800	168105800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaccaactctccacaacatCgccagaaacagtcgctgcca	5	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:168105800C>T	uc002udx.2	+	8	7916	c.7898C>T	c.(7897-7899)TCG>TTG	p.S2633L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2458L|XIRP2_uc010fpq.2_Missense_Mutation_p.S2411L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2458					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TCCACAACATCGCCAGAAACA	0.448													T	168105800	C	T	168105800	3	4	250	1	0	0	0	0	1	0	0	0	17427	893	31	1	7928	1	XIRP2	2	168105800	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	816823	168105800	75093573	212	124140											
LRP2	4036	broad.mit.edu	37	chr2	170097872	170097872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacataccaggaggcctgGttgctagaaggaaaacatgg	14	8	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:170097872G>A	uc002ues.2	-	25	3884	c.3671C>T	c.(3670-3672)ACC>ATC	p.T1224I	LRP2_uc010zdf.1_Missense_Mutation_p.T1087I	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1224	LDL-receptor class A 12.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	AGGAGGCCTGGTTGCTAGAAG	0.448													A	170097872	G	A	170097872	3	1	250	1	0	0	0	0	1	0	0	0	8956	1261	44	4	10516	4	LRP2	2	170097872	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1992072	170097872	73101501	213	124141											
UBR3	130507	broad.mit.edu	37	chr2	170850862	170850862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgtgacaatgttgagCcaaaaaagttgccgatcagt	11	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:170850862C>T	uc010zdi.1	+	26	3814	c.3814C>T	c.(3814-3816)CCA>TCA	p.P1272S	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.P93S|UBR3_uc002uft.3_Missense_Mutation_p.P125S	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1272					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						CAATGTTGAGCCAAAAAAGTT	0.403													T	170850862	C	T	170850862	3	4	250	1	0	0	0	0	1	0	0	0	16900	739	26	2	3916	2	UBR3	2	170850862	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	752990	170850862	72348511	214	124142											
MYO3B	140469	broad.mit.edu	37	chr2	171258099	171258099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacactgtagacagggCtgcggacgttcgagacgcca	13	12	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:171258099C>T	uc002ufy.2	+	18	2170	c.2027C>T	c.(2026-2028)GCT>GTT	p.A676V	MYO3B_uc002ufv.2_Missense_Mutation_p.A663V|MYO3B_uc010fqb.1_Missense_Mutation_p.A663V|MYO3B_uc002ufz.2_Missense_Mutation_p.A676V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	676	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GTAGACAGGGCTGCGGACGTT	0.562													T	171258099	C	T	171258099	3	4	250	1	0	0	0	0	1	0	0	0	10077	797	28	2	2097	2	MYO3B	2	171258099	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	407237	171258099	71941274	215	124143											
DLX2	1746	broad.mit.edu	37	chr2	172965288	172965288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttagaaaatcgtccccgCgctcaccggggcgcccccgc	13	17	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:172965288C>T	uc002uhn.2	-	3	1182	c.970G>A	c.(970-972)GCG>ACG	p.A324T		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATCGTCCCCGCGCTCACCGGG	0.677													T	172965288	C	T	172965288	3	4	250	1	0	0	0	0	1	0	0	0	4571	768	27	1	20	1	DLX2	2	172965288	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1707189	172965288	70234085	216	124144											
HOXD3	3232	broad.mit.edu	37	chr2	177036642	177036642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatatgtacggcctggcCgcctacacggcgccactcag	10	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:177036642C>T	uc002ukt.1	+	3	1115	c.939C>T	c.(937-939)GCC>GCT	p.A313A		NM_006898	NP_008829	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				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACGGCCTGGCCGCCTACACGG	0.692													T	177036642	C	T	177036642	2	4	250	1	0	0	0	0	0	0	0	1	7323	639	23	1		1	HOXD3	2	177036642	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4071354	177036642	66162731	217	124145											
HOXD3	3232	broad.mit.edu	37	chr2	177036654	177036654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggccgcctacacggcGccactcagcagctgcctgcc	12	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:177036654G>A	uc002ukt.1	+	3	1127	c.951G>A	c.(949-951)GCG>GCA	p.A317A		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	317					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				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCTACACGGCGCCACTCAGCA	0.692													A	177036654	G	A	177036654	2	1	250	1	0	0	0	0	0	0	0	1	7323	1074	38	1		1	HOXD3	2	177036654	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	12	177036654	66162719	218	124146											
TTN	7273	broad.mit.edu	37	chr2	179404574	179404574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaatatcctggccttcctTggtccatttacatattggga	7	10	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179404574T>C	uc010zfg.1	-	301	90738	c.90514A>G	c.(90514-90516)AAG>GAG	p.K30172E	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K23867E|TTN_uc010zfi.1_Missense_Mutation_p.K23800E|TTN_uc010zfj.1_Missense_Mutation_p.K23675E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31099							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCTTCCTTGGTCCATTTA	0.428													C	179404574	T	C	179404574	3	2	250	1	0	0	0	0	1	0	0	0	16732	1821	63	3	9805	3	TTN	2	179404574	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	2367920	179404574	63794799	219	124147											
TTN	7273	broad.mit.edu	37	chr2	179413214	179413214	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccacataatgatggattcGggcaccaccgtcaagaagag	10	10	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179413214G>A	uc010zfg.1	-	288	85659	c.85435C>T	c.(85435-85437)CGA>TGA	p.R28479*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R22174*|TTN_uc010zfi.1_Nonsense_Mutation_p.R22107*|TTN_uc010zfj.1_Nonsense_Mutation_p.R21982*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29406							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGATTCGGGCACCACCG	0.512													A	179413214	G	A	179413214	4	1	250	1	0	0	0	0	0	1	0	0	16732	1124	39	1	14936	1	TTN	2	179413214	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	8640	179413214	63786159	220	124148											
TTN	7273	broad.mit.edu	37	chr2	179447201	179447201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcttgtttcacgtttGtcaacaatatagttggtgat	10	7	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179447201G>T	uc010zfg.1	-	263	58502	c.58278C>A	c.(58276-58278)GAC>GAA	p.D19426E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13121E|TTN_uc010zfi.1_Missense_Mutation_p.D13054E|TTN_uc010zfj.1_Missense_Mutation_p.D12929E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20353							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACGTTTGTCAACAATAT	0.453													T	179447201	G	T	179447201	3	4	250	1	0	0	0	0	1	0	0	0	16732	1368	48	5	42193	5	TTN	2	179447201	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	33987	179447201	63752172	221	124149											
TTN	7273	broad.mit.edu	37	chr2	179481674	179481674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacttggaaccaggatcGtgataggatttgggacaata	12	6	0	1	rs150364979	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179481674G>A	uc010zfg.1	-	205	40462	c.40238C>T	c.(40237-40239)ACG>ATG	p.T13413M	TTN_uc010zfh.1_Missense_Mutation_p.T7108M|TTN_uc010zfi.1_Missense_Mutation_p.T7041M|TTN_uc010zfj.1_Missense_Mutation_p.T6916M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14340							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCAGGATCGTGATAGGATT	0.418													A	179481674	G	A	179481674	3	1	250	1	0	0	0	0	1	0	0	0	16732	1145	40	1	60179	1	TTN	2	179481674	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	34473	179481674	63717699	222	124150											
TTN	7273	broad.mit.edu	37	chr2	179501201	179501201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtattcaccagcatcGgaaagttgaacatcaatgat	9	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:179501201G>A	uc010zfg.1	-	174	33773	c.33549C>T	c.(33547-33549)TCC>TCT	p.S11183S	TTN_uc010zfh.1_Silent_p.S4878S|TTN_uc010zfi.1_Silent_p.S4811S|TTN_uc010zfj.1_Silent_p.S4686S|TTN_uc010fre.1_Silent_p.S1044S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12110							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAGCATCGGAAAGTTGAA	0.418													A	179501201	G	A	179501201	2	1	250	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179501201	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	19527	179501201	63698172	223	124151											
MFSD6	54842	broad.mit.edu	37	chr2	191301852	191301852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaagccccccgagtacaGgaattaccagatcgtcttca	9	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:191301852G>T	uc002urz.2	+	3	1421	c.1097G>T	c.(1096-1098)AGG>ATG	p.R366M		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	366					transmembrane transport	integral to membrane				ovary(2)	2						CCCGAGTACAGGAATTACCAG	0.547													T	191301852	G	T	191301852	3	4	250	1	0	0	0	0	1	0	0	0	9535	1000	35	5	1099	5	MFSD6	2	191301852	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	11800651	191301852	51897521	224	124152											
MYO1B	4430	broad.mit.edu	37	chr2	192228888	192228889	+	Frame_Shift_Ins	INS	-	-	A													cctgccttcccacagagttaINSaaagaaatttgtgaattgac							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:192228887_192228888T>TA	uc010fsg.2	+	10	1172_1173	c.917_918T>TA	c.(916-918)ttafs	p.L306fs	MYO1B_uc002usq.2_Frame_Shift_Ins_p.L306fs|MYO1B_uc002usr.2_Frame_Shift_Ins_p.L306fs	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	306	Myosin head-like.					myosin complex	ATP binding|actin 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)			CCCACAGAGTTAAAAGAAATTT	0.391													A	192228889	-	A	192228888	7	5	250	1	0	1	1	0	0	0	0	0	10069	359	13	0	956	0	MYO1B	2	192228888	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	927036	192228888	50970485	225	124153											
MYO1B	4430	broad.mit.edu	37	chr2	192257883	192257883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatcgggggtggaaatgcCgcacacacttcctgctaatg	11	10	0	0	rs147751540		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:192257883C>T	uc010fsg.2	+	20	2416	c.2161C>T	c.(2161-2163)CGC>TGC	p.R721C	MYO1B_uc002usq.2_Missense_Mutation_p.R721C|MYO1B_uc002usr.2_Missense_Mutation_p.R721C|MYO1B_uc002usu.2_5'UTR	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	721	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTGGAAATGCCGCACACACTT	0.413													T	192257883	C	T	192257883	3	4	250	1	0	0	0	0	1	0	0	0	10069	652	23	1	2235	1	MYO1B	2	192257883	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	28995	192257883	50941490	226	124154											
SDPR	8436	broad.mit.edu	37	chr2	192701367	192701367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggatttgttttcatccGgaagctcctccttcccttcc	7	15	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:192701367G>A	uc002utb.2	-	2	890	c.560C>T	c.(559-561)CCG>CTG	p.P187L		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	187						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GTTTTCATCCGGAAGCTCCTC	0.547													A	192701367	G	A	192701367	3	1	250	1	0	0	0	0	1	0	0	0	13970	1116	39	1	721	1	SDPR	2	192701367	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	443484	192701367	50498006	227	124155											
DNAH7	56171	broad.mit.edu	37	chr2	196912182	196912183	+	Frame_Shift_Ins	INS	-	-	G													taactatcatcaacttggtgINSgggtaatttgcccttttttc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:196912181_196912182T>TG	uc002utj.4	-	4	393_394	c.292_293A>CA	c.(292-294)cacfs	p.H98fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	98	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						ATCAACTTGGTGGGGTAATTTG	0.327													G	196912183	-	G	196912182	7	5	250	1	0	1	1	0	0	0	0	0	4606	1348	47	0	12026	0	DNAH7	2	196912182	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	4210815	196912182	46287191	228	124156											
PGAP1	80055	broad.mit.edu	37	chr2	197781161	197781161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttatagagtttgagaattGttttaatacattcatgtaca	6	5	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:197781161G>A	uc002utw.2	-	3	572	c.458C>T	c.(457-459)ACA>ATA	p.T153I	PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.T153I|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	153	Lumenal (Potential).				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			ovary(3)|central_nervous_system(1)	4						TTTGAGAATTGTTTTAATACA	0.353													A	197781161	G	A	197781161	3	1	250	1	0	0	0	0	1	0	0	0	11777	1377	48	4	2410	4	PGAP1	2	197781161	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	868979	197781161	45418212	229	124157											
TRAK2	66008	broad.mit.edu	37	chr2	202265809	202265809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgctccaccctgtctgTgcctagaactaatatagtta	6	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:202265809T>C	uc002uyb.3	-	4	741	c.295A>G	c.(295-297)ACA>GCA	p.T99A	TRAK2_uc002uyc.2_Missense_Mutation_p.T99A	NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	99						early endosome|plasma membrane	GABA receptor binding				0						ACCCTGTCTGTGCCTAGAACT	0.323													C	202265809	T	C	202265809	3	2	250	1	0	0	0	0	1	0	0	0	16447	1696	59	3	2501	3	TRAK2	2	202265809	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4484648	202265809	40933564	230	124158											
STRADB	55437	broad.mit.edu	37	chr2	202339376	202339376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttatcctagaaagccGtgattctatcccactttttc	6	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:202339376G>A	uc002uyd.3	+	6	687	c.322G>A	c.(322-324)GTG>ATG	p.V108M		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	108	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			skin(2)|stomach(1)|lung(1)	4						CTAGAAAGCCGTGATTCTATC	0.383													A	202339376	G	A	202339376	3	1	250	1	0	0	0	0	1	0	0	0	15324	1145	40	1	340	1	STRADB	2	202339376	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	73567	202339376	40859997	231	124159											
NRP2	8828	broad.mit.edu	37	chr2	206659485	206659485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtatcgcagatgaataCgaggtggactggagcaattc	12	6	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:206659485C>T	uc002vaw.2	+	17	3290	c.2499C>T	c.(2497-2499)TAC>TAT	p.Y833Y	NRP2_uc002vax.2_Silent_p.Y828Y|NRP2_uc002vay.2_Silent_p.Y811Y	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	833	Extracellular (Potential).				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			skin(2)|ovary(1)|central_nervous_system(1)	4						CAGATGAATACGAGGTGGACT	0.522													T	206659485	C	T	206659485	2	4	250	1	0	0	0	0	0	0	0	1	10661	547	19	1		1	NRP2	2	206659485	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4320109	206659485	36539888	232	124160											
INO80D	54891	broad.mit.edu	37	chr2	206882406	206882406	+	Frame_Shift_Del	DEL	T	T	-													ctctgttgcagaacttaccaTttttttggcatgttcttcac							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:206882406delT	uc002vaz.3	-	8	1945	c.1540delA	c.(1540-1542)ATGfs	p.M514fs		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GAACTTACCATTTTTTTGGCA	0.254													-	206882406	T	-	206882406	7	5	250	1	0	1	0	1	0	0	0	0	7749	1493	52	0	1559	0	INO80D	2	206882406	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	222921	206882406	36316967	233	124161											
RPE	6120	broad.mit.edu	37	chr2	210882219	210882219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactggttgaggacccagtTcccatctttggatatagagg	11	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:210882219T>C	uc002vdn.2	+	5	505	c.500T>C	c.(499-501)TTC>TCC	p.F167S	RPE_uc002vdm.2_Missense_Mutation_p.F167S|RPE_uc002vdo.2_Missense_Mutation_p.F117S|RPE_uc010zjf.1_Intron|RPE_uc002vdp.2_Missense_Mutation_p.F114S|RPE_uc010fup.2_Missense_Mutation_p.F99S|RPE_uc002vdq.2_Missense_Mutation_p.F117S|RPE_uc002vdr.2_Missense_Mutation_p.F82S	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	167					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGGACCCAGTTCCCATCTTTG	0.373													C	210882219	T	C	210882219	3	2	250	1	0	0	0	0	1	0	0	0	13544	1783	62	3	576	3	RPE	2	210882219	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	3999813	210882219	32317154	234	124162											
SPAG16	79582	broad.mit.edu	37	chr2	214354794	214354794	+	Silent	SNP	C	C	G													ctgaaaaacatttttagactCcatgaacttccagtgagctg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:214354794C>G	uc002veq.2	+	10	1142	c.1050C>G	c.(1048-1050)CTC>CTG	p.L350L	SPAG16_uc010fuz.1_Silent_p.L201L|SPAG16_uc002ver.2_Silent_p.L296L|SPAG16_uc010zjk.1_Silent_p.L256L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	350	WD 1.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		TTTTTAGACTCCATGAACTTC	0.313													G	214354794	C	G	214354794	2	3	250	1	0	0	0	0	0	0	0	1	14978	842	30	5		5	SPAG16	2	214354794	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3472575	214354794	28844579	235	124163	649	2									
SPAG16	79582	broad.mit.edu	37	chr2	214354804	214354804	+	Missense_Mutation	SNP	C	C	A													tttttagactccatgaacttCcagtgagctggtaggatttt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:214354804C>A	uc002veq.2	+	10	1152	c.1060C>A	c.(1060-1062)CCA>ACA	p.P354T	SPAG16_uc010fuz.1_Missense_Mutation_p.P205T|SPAG16_uc002ver.2_Missense_Mutation_p.P300T|SPAG16_uc010zjk.1_Missense_Mutation_p.P260T	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	354	WD 1.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		CCATGAACTTCCAGTGAGCTG	0.318													A	214354804	C	A	214354804	3	1	250	1	0	0	0	0	1	0	0	0	14978	855	30	5	1114	5	SPAG16	2	214354804	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	10	214354804	28844569	236	124164	649	2									
FN1	2335	broad.mit.edu	37	chr2	216226286	216226286	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagatgatttactctcGggaatcttctctgtcagcct	9	9	4	2	rs146924311	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:216226286G>A	uc002vfa.2	-	46	7692	c.7426C>T	c.(7426-7428)CGA>TGA	p.R2476*	FN1_uc002vfb.2_Nonsense_Mutation_p.R2264*|FN1_uc002vfc.2_Nonsense_Mutation_p.R2239*|FN1_uc002vfd.2_Nonsense_Mutation_p.R2420*|FN1_uc002vfe.2_Nonsense_Mutation_p.R2354*|FN1_uc002vff.2_Nonsense_Mutation_p.R2329*|FN1_uc002vfg.2_Nonsense_Mutation_p.R2295*|FN1_uc002vfh.2_Nonsense_Mutation_p.R2175*|FN1_uc002vfi.2_Nonsense_Mutation_p.R2445*|FN1_uc002vfj.2_Nonsense_Mutation_p.R2266*|FN1_uc002vez.2_Nonsense_Mutation_p.R639*|FN1_uc010zjp.1_Nonsense_Mutation_p.R1013*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2385					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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	ATTTACTCTCGGGAATCTTCT	0.408													A	216226286	G	A	216226286	4	1	250	1	0	0	0	0	0	1	0	0	5962	1124	39	1	11	1	FN1	2	216226286	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1871482	216226286	26973087	237	124165											
IGFBP2	3485	broad.mit.edu	37	chr2	217525350	217525350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccatgaacatgttgggCgggggaggcagtgctggccg	18	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:217525350C>T	uc010zjt.1	+	4	642	c.492C>T	c.(490-492)GGC>GGT	p.G164G	IGFBP2_uc010zju.1_Silent_p.G99G	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	171					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				0		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)		ACATGTTGGGCGGGGGAGGCA	0.607													T	217525350	C	T	217525350	2	4	250	1	0	0	0	0	0	0	0	1	7579	755	27	1		1	IGFBP2	2	217525350	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1299064	217525350	25674023	238	124166											
USP37	57695	broad.mit.edu	37	chr2	219328045	219328045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccttgaagacttaactcGgtagctcttttgaggtcatc	8	10	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:219328045G>A	uc002vie.2	-	22	2964	c.2511C>T	c.(2509-2511)ACC>ACT	p.T837T	USP37_uc010fvs.1_Silent_p.T837T|USP37_uc010zkf.1_Silent_p.T837T|USP37_uc002vif.2_Silent_p.T837T|USP37_uc002vig.2_Silent_p.T743T	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	837	UIM 3.				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		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)		GACTTAACTCGGTAGCTCTTT	0.244													A	219328045	G	A	219328045	2	1	250	1	0	0	0	0	0	0	0	1	17065	1103	39	1		1	USP37	2	219328045	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1802695	219328045	23871328	239	124167											
CCDC108	255101	broad.mit.edu	37	chr2	219875635	219875635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaagatggggtgatcaaaAtttttttcctgaacctgtga	9	6	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:219875635A>T	uc002vjl.1	-	25	4125	c.4041T>A	c.(4039-4041)AAT>AAA	p.N1347K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1347						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		GGTGATCAAAATTTTTTTCCT	0.522													T	219875635	A	T	219875635	3	4	250	1	0	0	0	0	1	0	0	0	2743	98	4	5	1780	5	CCDC108	2	219875635	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	547590	219875635	23323738	240	124168											
PTPRN	5798	broad.mit.edu	37	chr2	220164967	220164967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtctctgccctccacCggcccctccattgtctgttc	8	18	2	0	rs143421810		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:220164967C>T	uc002vkz.2	-	9	1265	c.1176G>A	c.(1174-1176)CCG>CCA	p.P392P	PTPRN_uc010zlc.1_Silent_p.P302P|PTPRN_uc002vla.2_Silent_p.P392P	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	392	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGCCCTCCACCGGCCCCTCCA	0.637													T	220164967	C	T	220164967	2	4	250	1	0	0	0	0	0	0	0	1	12807	639	23	1		1	PTPRN	2	220164967	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	289332	220164967	23034406	241	124169											
OBSL1	23363	broad.mit.edu	37	chr2	220435497	220435497	+	Frame_Shift_Del	DEL	C	C	-													acagtgtgggctcggggaggCcccccgcccggcacgtcagc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:220435497delC	uc010fwk.2	-	1	515	c.458delG	c.(457-459)GGCfs	p.G153fs	OBSL1_uc002vmi.2_Frame_Shift_Del_p.G153fs|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	153	Ig-like 2.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		CTCGGGGAGGCCCCCCGCCCG	0.746													-	220435497	C	-	220435497	7	5	250	1	0	1	0	1	0	0	0	0	10813	739	26	0	5468	0	OBSL1	2	220435497	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	270530	220435497	22763876	242	124170											
ACSL3	2181	broad.mit.edu	37	chr2	223773616	223773616	+	Frame_Shift_Del	DEL	T	T	-													ttaacatacattccgttttaTtttttctccgagtcaagaca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:223773615_223773615AT>A	uc002vni.3	+	3	576	c.125_125AT>A	c.(124-126)tatfs	p.Y42fs	ACSL3_uc002vnj.3_Frame_Shift_Del_p.Y42fs	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	42					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)	ATTCCGTTTTATTTTTTCTCC	0.294			T	ETV1	prostate								-	223773616	T	-	223773616	7	5	250	1	0	1	0	1	0	0	0	0	178	1500	52	0	128	0	ACSL3	2	223773616	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	3338119	223773616	19425757	243	124171											
KCNE4	23704	broad.mit.edu	37	chr2	223918058	223918058	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaacatccatcagaattcCtagcacccccgggacccctg	8	16	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:223918058C>A	uc002vnl.3	+	2	664	c.510C>A	c.(508-510)TCC>TCA	p.S170S		NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	170	Cytoplasmic (Potential).					integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCAGAATTCCTAGCACCCCC	0.582													A	223918058	C	A	223918058	2	1	250	1	0	0	0	0	0	0	0	1	8025	668	24	5		5	KCNE4	2	223918058	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	144442	223918058	19281315	244	124172											
SERPINE2	5270	broad.mit.edu	37	chr2	224863030	224863030	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggagacgatggcctTgttgatcttctttaatattt	8	7	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:224863030T>A	uc002vnu.2	-	3	532	c.289A>T	c.(289-291)AAG>TAG	p.K97*	SERPINE2_uc002vnt.2_Nonsense_Mutation_p.K97*|SERPINE2_uc010zlr.1_Nonsense_Mutation_p.K109*|SERPINE2_uc002vnv.2_Nonsense_Mutation_p.K97*	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	97					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)|ovary(1)|central_nervous_system(1)	4		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)		ACGATGGCCTTGTTGATCTTC	0.338													A	224863030	T	A	224863030	4	1	250	1	0	0	0	0	0	1	0	0	14112	1821	63	5	935	5	SERPINE2	2	224863030	Nonsense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	944972	224863030	18336343	245	124173											
KIAA1486	57624	broad.mit.edu	37	chr2	226446979	226446979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacgacttgggccaagaCgccaaatgtgacttcgacca	10	11	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:226446979C>T	uc002voe.2	+	4	1021	c.846C>T	c.(844-846)GAC>GAT	p.D282D	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.D52D	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	282										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		TGGGCCAAGACGCCAAATGTG	0.557													T	226446979	C	T	226446979	2	4	250	1	0	0	0	0	0	0	0	1	8237	535	19	1		1	KIAA1486	2	226446979	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1583949	226446979	16752394	246	124174											
COL4A3	1285	broad.mit.edu	37	chr2	228158020	228158020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggaagtcctggaagTcctggcctcccaggtaaggc	13	14	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:228158020T>C	uc002vom.1	+	38	3486	c.3324T>C	c.(3322-3324)AGT>AGC	p.S1108S	COL4A3_uc002von.1_Silent_p.S1108S|COL4A3_uc002voo.1_Silent_p.S1108S|COL4A3_uc002vop.1_Silent_p.S1108S|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1108	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			skin(2)|ovary(1)	3		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)		GTCCTGGAAGTCCTGGCCTCC	0.512													C	228158020	T	C	228158020	2	2	250	1	0	0	0	0	0	0	0	1	3691	1664	58	3		3	COL4A3	2	228158020	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1711041	228158020	15041353	247	124175											
DNER	92737	broad.mit.edu	37	chr2	230223322	230223322	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggactgtaatcttcataggcGatggggctcacatcatacat	10	9	4	0	rs139616890		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:230223322G>A	uc002vpv.2	-	13	2295	c.2148C>T	c.(2146-2148)ATC>ATT	p.I716I		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	716	Cytoplasmic (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTTCATAGGCGATGGGGCTCA	0.358													A	230223322	G	A	230223322	2	1	250	1	0	0	0	0	0	0	0	1	4667	1048	37	1		1	DNER	2	230223322	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2065302	230223322	12976051	248	124176											
DNER	92737	broad.mit.edu	37	chr2	230231681	230231681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggctggcctggaagaaccCtggtattcaatgcggctgat	13	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:230231681C>A	uc002vpv.2	-	12	2157	c.2010G>T	c.(2008-2010)CAG>CAT	p.Q670H		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	670	Cytoplasmic (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGAAGAACCCTGGTATTCAA	0.547													A	230231681	C	A	230231681	3	1	250	1	0	0	0	0	1	0	0	0	4667	680	24	5	211	5	DNER	2	230231681	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	8359	230231681	12967692	249	124177											
DIS3L2	129563	broad.mit.edu	37	chr2	233001390	233001390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacacactgttcatctgccGcattgtggactggaaggagg	12	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:233001390G>A	uc010fxz.2	+	8	1187	c.911G>A	c.(910-912)CGC>CAC	p.R304H	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	304							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		TTCATCTGCCGCATTGTGGAC	0.507													A	233001390	G	A	233001390	3	1	250	1	0	0	0	0	1	0	0	0	4537	1087	38	1	937	1	DIS3L2	2	233001390	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2769709	233001390	10197983	250	124178											
ALPP	250	broad.mit.edu	37	chr2	233243925	233243925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggatgggggtgtctaCggtgacagctgccaggatcc	16	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:233243925C>T	uc002vsq.2	+	3	374	c.209C>T	c.(208-210)ACG>ATG	p.T70M	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	70						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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)		GGGGTGTCTACGGTGACAGCT	0.612													T	233243925	C	T	233243925	3	4	250	1	0	0	0	0	1	0	0	0	548	536	19	1	219	1	ALPP	2	233243925	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	242535	233243925	9955448	251	124179											
ALPP	250	broad.mit.edu	37	chr2	233246265	233246265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaagagacccacgcaggCgaggacgtggcggtgttcgc	17	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:233246265C>T	uc002vsq.2	+	11	1533	c.1368C>T	c.(1366-1368)GGC>GGT	p.G456G	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	456						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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)		CCCACGCAGGCGAGGACGTGG	0.662													T	233246265	C	T	233246265	2	4	250	1	0	0	0	0	0	0	0	1	548	755	27	1		1	ALPP	2	233246265	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2340	233246265	9953108	252	124180											
TRPM8	79054	broad.mit.edu	37	chr2	234846108	234846108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaggaatttcctaccgaCgcctttggggatattcagtt	9	10	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:234846108C>T	uc002vvh.2	+	4	343	c.303C>T	c.(301-303)GAC>GAT	p.D101D	TRPM8_uc010fyj.2_Translation_Start_Site|TRPM8_uc002vvi.3_Silent_p.D51D|TRPM8_uc002vvj.3_Silent_p.D24D	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	101	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		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)	TTCCTACCGACGCCTTTGGGG	0.483													T	234846108	C	T	234846108	2	4	250	1	0	0	0	0	0	0	0	1	16589	535	19	1		1	TRPM8	2	234846108	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1599843	234846108	8353265	253	124181											
TRPM8	79054	broad.mit.edu	37	chr2	234879010	234879011	+	Frame_Shift_Ins	INS	-	-	C													atttccattcggtgccacacINSccccccgagctggtcctgta							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:234879009_234879010A>AC	uc002vvh.3	+	16	2334_2335	c.2294_2295A>AC	c.(2293-2295)cacfs	p.H765fs	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	765						integral to membrane				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)	TCGGTGCCACACCCCCCCGAGC	0.574													C	234879011	-	C	234879010	7	5	250	1	0	1	1	0	0	0	0	0	16589	506	18	0	2357	0	TRPM8	2	234879010	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	32902	234879010	8320363	254	124182											
COL6A3	1293	broad.mit.edu	37	chr2	238280909	238280909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctatgagggtgcgaaCgtactggaactcaggcccgg	13	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:238280909C>T	uc002vwl.2	-	9	4036	c.3751G>A	c.(3751-3753)GTT>ATT	p.V1251I	COL6A3_uc002vwo.2_Missense_Mutation_p.V1045I|COL6A3_uc010znj.1_Missense_Mutation_p.V644I|COL6A3_uc002vwq.2_Missense_Mutation_p.V1045I|COL6A3_uc002vwr.2_Missense_Mutation_p.V844I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1251	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		AGGGTGCGAACGTACTGGAAC	0.567													T	238280909	C	T	238280909	3	4	250	1	0	0	0	0	1	0	0	0	3701	536	19	1	5973	1	COL6A3	2	238280909	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3401899	238280909	4918464	255	124183											
HDAC4	9759	broad.mit.edu	37	chr2	239975163	239975163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaggtgctcacctcttttCggcgggcttcacgcccacgg	13	15	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:239975163C>T	uc002vyk.3	-	26	4000	c.3208G>A	c.(3208-3210)GAA>AAA	p.E1070K	HDAC4_uc010fyy.2_Missense_Mutation_p.E1027K	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1070	Nuclear export signal (By similarity).|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			breast(3)|skin(2)|ovary(1)	6		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)		CACCTCTTTTCGGCGGGCTTC	0.632													T	239975163	C	T	239975163	3	4	250	1	0	0	0	0	1	0	0	0	7009	893	31	1	54	1	HDAC4	2	239975163	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1694254	239975163	3224210	256	124184											
HDLBP	3069	broad.mit.edu	37	chr2	242203992	242203992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtaggttggagggtcGctctcctcttctgaatttag	11	9	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:242203992G>A	uc002waz.2	-	4	333	c.105C>T	c.(103-105)AGC>AGT	p.S35S	HDLBP_uc002wba.2_Silent_p.S35S|HDLBP_uc002wbb.2_Silent_p.S56S|HDLBP_uc010fzn.1_5'UTR|uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	35					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		TTGGAGGGTCGCTCTCCTCTT	0.483													A	242203992	G	A	242203992	2	1	250	1	0	0	0	0	0	0	0	1	7025	1078	38	1		1	HDLBP	2	242203992	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2228829	242203992	995381	257	124185											
C2orf85	285093	broad.mit.edu	37	chr2	242815402	242815402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtgtcggctgaacccCgggatctacccgcagcaagt	12	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr2:242815402C>T	uc010fzu.1	+	2	1718	c.1695C>T	c.(1693-1695)CCC>CCT	p.P565P		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	565						integral to membrane				ovary(1)	1						GGCTGAACCCCGGGATCTACC	0.652													T	242815402	C	T	242815402	2	4	250	1	0	0	0	0	0	0	0	1	2200	639	23	1		1	C2orf85	2	242815402	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	611410	242815402	383971	258	124186											
ITPR1	3708	broad.mit.edu	37	chr3	4859858	4859858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactatctgtgcttcatcGtcctggtgaaagtaaaggac	11	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:4859858G>A	uc003bqa.2	+	57	8164	c.7816G>A	c.(7816-7818)GTC>ATC	p.V2606I	ITPR1_uc010hca.1_Missense_Mutation_p.V2591I|ITPR1_uc011asu.1_Missense_Mutation_p.V617I|ITPR1_uc003bqc.2_Missense_Mutation_p.V1576I|ITPR1_uc010hcc.1_Missense_Mutation_p.V374I|ITPR1_uc011asv.1_Missense_Mutation_p.V330I	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2654	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGCTTCATCGTCCTGGTGAA	0.468													A	4859858	G	A	4859858	3	1	250	1	0	0	0	0	1	0	0	0	7920	1145	40	1	8190	1	ITPR1	3	4859858	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		4859858	193162572	259	124187											
CAMK1	8536	broad.mit.edu	37	chr3	9803194	9803194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatccacagccttgctgtAgggcttctgggccaggactt	12	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:9803194A>G	uc003bst.2	-	7	761	c.583T>C	c.(583-585)TAC>CAC	p.Y195H	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	195	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			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GCCTTGCTGTAGGGCTTCTGG	0.587													G	9803194	A	G	9803194	3	3	250	1	0	0	0	0	1	0	0	0	2596	420	15	3	553	3	CAMK1	3	9803194	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	4943336	9803194	188219236	260	124188											
IL17RC	84818	broad.mit.edu	37	chr3	9969997	9969997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccttgcagacccccgcGcacaccagaacctctggcaa	7	18	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:9969997G>A	uc003bua.2	+	11	1335	c.1099G>A	c.(1099-1101)GCA>ACA	p.A367T	CIDEC_uc003bto.2_Intron|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.A271T|IL17RC_uc003btz.2_Missense_Mutation_p.A296T|IL17RC_uc011atp.1_Missense_Mutation_p.A152T|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.A281T|IL17RC_uc010hct.2_Missense_Mutation_p.A296T|IL17RC_uc010hcu.2_Missense_Mutation_p.A296T|IL17RC_uc010hcv.2_Missense_Mutation_p.A281T|IL17RC_uc011atq.1_Missense_Mutation_p.A281T|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	367	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						AGACCCCCGCGCACACCAGAA	0.687													A	9969997	G	A	9969997	3	1	250	1	0	0	0	0	1	0	0	0	7641	1087	38	1	1141	1	IL17RC	3	9969997	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	166803	9969997	188052433	261	124189											
RAF1	5894	broad.mit.edu	37	chr3	12633207	12633207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgccagctttctactcacCgcagaacagccacctcattc	5	18	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:12633207C>A	uc003bxf.3	-	11	1608	c.1193G>T	c.(1192-1194)CGC>CTC	p.R398L	RAF1_uc011aut.1_Missense_Mutation_p.R183L|RAF1_uc011auu.1_Missense_Mutation_p.R316L	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	398	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)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	TTCTACTCACCGCAGAACAGC	0.547			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				A	12633207	C	A	12633207	3	1	250	1	0	0	0	0	1	0	0	0	13002	666	23	5	781	5	RAF1	3	12633207	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2663210	12633207	185389223	262	124190											
CAND2	23066	broad.mit.edu	37	chr3	12875432	12875434	+	In_Frame_Del	DEL	AGA	AGA	-													tgccctctttgaaagcatccAgaaggattccgcttcagccc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:12875431_12875433CAGA>C	uc003bxk.2	+	14	3710_3712	c.3661_3663CAGA>C	c.(3661-3663)cag>C	p.Q1221del	CAND2_uc003bxj.2_In_Frame_Del_p.Q1104del	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	1221					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						TGAAAGCATCCAGAAGGATTCCG	0.571													-	12875434	AGA	-	12875432	7	5	250	1	0	1	0	1	0	0	0	0	2616	188	7	0	3720	0	CAND2	3	12875432	In_Frame_Del	DEL	AGA	TCGA-HF-7132-01A-11D-2053-08	242225	12875432	185146998	263	124191											
IQSEC1	9922	broad.mit.edu	37	chr3	12977201	12977201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgccggttggctgagcCattgatggccaagtggctgt	15	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:12977201C>A	uc003bxt.2	-	3	1366	c.1357G>T	c.(1357-1359)GGC>TGC	p.G453C	IQSEC1_uc003bxu.3_Missense_Mutation_p.G331C|IQSEC1_uc011auw.1_Missense_Mutation_p.G439C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	453					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TTGGCTGAGCCATTGATGGCC	0.637													A	12977201	C	A	12977201	3	1	250	1	0	0	0	0	1	0	0	0	7817	594	21	5	2127	5	IQSEC1	3	12977201	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	101769	12977201	185045229	264	124192											
FBLN2	2199	broad.mit.edu	37	chr3	13612535	13612535	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtccaggcaggcgcaggggGccccccagctgctctgggag	17	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:13612535G>C	uc011avb.1	+	2	805	c.680G>C	c.(679-681)GGC>GCC	p.G227A	FBLN2_uc011auz.1_Missense_Mutation_p.G253A|FBLN2_uc011ava.1_Missense_Mutation_p.G227A|FBLN2_uc011avc.1_Missense_Mutation_p.G227A	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	227	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGCGCAGGGGGCCCCCCAGCT	0.701													C	13612535	G	C	13612535	3	2	250	1	0	0	0	0	1	0	0	0	5699	1203	42	5		5	FBLN2	3	13612535	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	635334	13612535	184409895	265	124193											
NR2C2	7182	broad.mit.edu	37	chr3	15057748	15057748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtactgtgtggtctgtggCgacaaagcctccggtatgta	14	8	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:15057748C>T	uc003bzj.3	+	4	580	c.363C>T	c.(361-363)GGC>GGT	p.G121G	NR2C2_uc003bzi.2_Silent_p.G140G	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	121	Nuclear receptor.|NR C4-type.				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						TGGTCTGTGGCGACAAAGCCT	0.507													T	15057748	C	T	15057748	2	4	250	1	0	0	0	0	0	0	0	1	10623	755	27	1		1	NR2C2	3	15057748	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1445213	15057748	182964682	266	124194											
HACL1	26061	broad.mit.edu	37	chr3	15637913	15637913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtcagatatccaatcgCggaggcagcataacaagcct	10	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:15637913C>T	uc003caf.2	-	3	365	c.205G>A	c.(205-207)GCG>ACG	p.A69T	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.A69T|HACL1_uc011avt.1_Missense_Mutation_p.A69T|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.A69T|HACL1_uc010hep.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	69					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						TATCCAATCGCGGAGGCAGCA	0.363													T	15637913	C	T	15637913	3	4	250	1	0	0	0	0	1	0	0	0	6941	768	27	1	1591	1	HACL1	3	15637913	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	580165	15637913	182384517	267	124195											
SGOL1	151648	broad.mit.edu	37	chr3	20215770	20215770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgttggcttagaacccTccgtctctttttcatctgtg	7	10	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:20215770T>C	uc003cbs.2	-	6	1440	c.1253A>G	c.(1252-1254)GAG>GGG	p.E418G	SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.E418G|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.E418G|SGOL1_uc003cca.2_Missense_Mutation_p.E418G|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	418					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						CTTAGAACCCTCCGTCTCTTT	0.393													C	20215770	T	C	20215770	3	2	250	1	0	0	0	0	1	0	0	0	14216	1551	54	3	468	3	SGOL1	3	20215770	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4577857	20215770	177806660	268	124196											
DCLK3	85443	broad.mit.edu	37	chr3	36759617	36759617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggggaaagccacacagcAggatatagaggatcacgcca	13	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:36759617A>G	uc003cgi.2	-	4	2128	c.1637T>C	c.(1636-1638)CTG>CCG	p.L546P		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	546	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						GCCACACAGCAGGATATAGAG	0.577													G	36759617	A	G	36759617	3	3	250	1	0	0	0	0	1	0	0	0	4293	188	7	3	317	3	DCLK3	3	36759617	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	16543847	36759617	161262813	269	124197											
TRANK1	9881	broad.mit.edu	37	chr3	36887887	36887887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagctgcttcagctctccGttgaggagctaaagataaca	9	10	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:36887887G>A	uc003cgj.2	-	7	3563	c.3261C>T	c.(3259-3261)AAC>AAT	p.N1087N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1637					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCAGCTCTCCGTTGAGGAGCT	0.448													A	36887887	G	A	36887887	2	1	250	1	0	0	0	0	0	0	0	1	16451	1136	40	1		1	TRANK1	3	36887887	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	128270	36887887	161134543	270	124198											
OXSR1	9943	broad.mit.edu	37	chr3	38287672	38287673	+	Frame_Shift_Del	DEL	TC	TC	-													tgctacacagccaactcaagTctctctcccacccaccgcag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:38287671_38287672GTC>G	uc003chy.3	+	12	1558_1559	c.1216_1217GTC>G	c.(1216-1218)gtcfs	p.V406fs	OXSR1_uc010hhb.3_Frame_Shift_Del_p.V340fs	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	406					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)		GCCAACTCAAGTCTCTCTCCCA	0.495													-	38287673	TC	-	38287672	7	5	250	1	0	1	0	1	0	0	0	0	11336	1667	58	0	1267	0	OXSR1	3	38287672	Frame_Shift_Del	DEL	TC	TCGA-HF-7132-01A-11D-2053-08	1399785	38287672	159734758	271	124199											
TGM4	7047	broad.mit.edu	37	chr3	44943120	44943120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgccccgatcctgcaGcagtactacaacacgaagca	10	14	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:44943120G>T	uc003coc.3	+	7	835	c.762G>T	c.(760-762)CAG>CAT	p.Q254H	TGM4_uc003cob.2_RNA	NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	254					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CGATCCTGCAGCAGTACTACA	0.582													T	44943120	G	T	44943120	3	4	250	1	0	0	0	0	1	0	0	0	15829	962	34	5	788	5	TGM4	3	44943120	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6655448	44943120	153079310	272	124200											
CDCP1	64866	broad.mit.edu	37	chr3	45132848	45132848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggatgatcatgaatgCgcgccctgtctggcagacca	11	13	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:45132848C>T	uc003com.2	-	7	1945	c.1810G>A	c.(1810-1812)GCA>ACA	p.A604T		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	604	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATCATGAATGCGCGCCCTGTC	0.607													T	45132848	C	T	45132848	3	4	250	1	0	0	0	0	1	0	0	0	3093	768	27	1	712	1	CDCP1	3	45132848	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	189728	45132848	152889582	273	124201											
SLC6A20	54716	broad.mit.edu	37	chr3	45817323	45817323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaggaggaggcacagcGccggctcccactgcacaccc	13	17	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:45817323G>A	uc011bai.1	-	4	636	c.512C>T	c.(511-513)GCG>GTG	p.A171V	SLC6A20_uc011baj.1_Missense_Mutation_p.A171V	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	171	Helical; Name=4; (Potential).				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GAGGCACAGCGCCGGCTCCCA	0.627													A	45817323	G	A	45817323	3	1	250	1	0	0	0	0	1	0	0	0	14684	1087	38	1	1298	1	SLC6A20	3	45817323	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	684475	45817323	152205107	274	124202											
CXCR6	10663	broad.mit.edu	37	chr3	45988802	45988802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggtgacagaggccatcGcatacctgagggcctgcctt	12	12	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:45988802G>A	uc003cpc.1	+	2	910	c.829G>A	c.(829-831)GCA>ACA	p.A277T	FYCO1_uc003cpb.3_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Missense_Mutation_p.A277T	NM_006564	NP_006555	O00574	CXCR6_HUMAN	G protein-coupled receptor TYMSTR	277	Helical; Name=7; (Potential).				viral genome replication	integral to plasma membrane	coreceptor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGAGGCCATCGCATACCTGAG	0.507													A	45988802	G	A	45988802	3	1	250	1	0	0	0	0	1	0	0	0	4095	1087	38	1	831	1	CXCR6	3	45988802	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	171479	45988802	152033628	275	124203											
NBEAL2	23218	broad.mit.edu	37	chr3	47030391	47030391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagctgcatgtgctggCcgaacagctgcaccaggctg	15	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47030391C>T	uc003cqp.2	+	3	379	c.200C>T	c.(199-201)GCC>GTC	p.A67V	NBEAL2_uc003cqq.1_Missense_Mutation_p.A60V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	67							binding			ovary(1)	1		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)		CATGTGCTGGCCGAACAGCTG	0.602													T	47030391	C	T	47030391	3	4	250	1	0	0	0	0	1	0	0	0	10189	739	26	2	210	2	NBEAL2	3	47030391	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1041589	47030391	150992039	276	124204											
SETD2	29072	broad.mit.edu	37	chr3	47098794	47098794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccagcaaagggatgatgCggggcattataaccaagaga	12	7	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47098794C>T	uc003cqs.2	-	15	6533	c.6480G>A	c.(6478-6480)CCG>CCA	p.P2160P	SETD2_uc003cqv.2_Silent_p.P2227P|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2160	Pro-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		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)		AGGGATGATGCGGGGCATTAT	0.537			N|F|S|Mis		clear cell renal carcinoma								T	47098794	C	T	47098794	2	4	250	1	0	0	0	0	0	0	0	1	14131	755	27	1		1	SETD2	3	47098794	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	68403	47098794	150923636	277	124205											
PTPN23	25930	broad.mit.edu	37	chr3	47454478	47454478	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcccccagctcggggCccccctcctcctccctggaa	9	21	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47454478C>G	uc003crf.1	+	25	4810	c.4714C>G	c.(4714-4716)CCC>GCC	p.P1572A	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.P1442A|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1572	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCTCGGGGCCCCCCTCCTC	0.657													G	47454478	C	G	47454478	3	3	250	1	0	0	0	0	1	0	0	0	12788	739	26	5	4812	5	PTPN23	3	47454478	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	355684	47454478	150567952	278	124206											
SCAP	22937	broad.mit.edu	37	chr3	47459936	47459936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagctgcccgtagttgcGcgggcatagcacgcggtaga	14	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:47459936G>A	uc003crh.1	-	15	2461	c.2206C>T	c.(2206-2208)CGC>TGC	p.R736C	SCAP_uc011baz.1_Missense_Mutation_p.R481C|SCAP_uc003crg.2_Missense_Mutation_p.R344C	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	736	Interaction with SREBF2 (By similarity).|Cytoplasmic (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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGTAGTTGCGCGGGCATAGC	0.726													A	47459936	G	A	47459936	3	1	250	1	0	0	0	0	1	0	0	0	13877	1087	38	1	1669	1	SCAP	3	47459936	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5458	47459936	150562494	279	124207											
COL7A1	1294	broad.mit.edu	37	chr3	48606837	48606837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggtccccattgtctccccGaggtcctttgtcaccatcca	8	16	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48606837G>A	uc003ctz.2	-	102	7658	c.7657C>T	c.(7657-7659)CGG>TGG	p.R2553W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2553	Triple-helical region.|Cell attachment site (Potential).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGTCTCCCCGAGGTCCTTTG	0.602													A	48606837	G	A	48606837	3	1	250	1	0	0	0	0	1	0	0	0	3704	1057	37	1	1245	1	COL7A1	3	48606837	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1146901	48606837	149415593	280	124208											
CELSR3	1951	broad.mit.edu	37	chr3	48697513	48697513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaccggccgatgagtgTtggcatctgtgatgttgatg	15	6	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48697513T>C	uc003cul.2	-	1	2836	c.2555A>G	c.(2554-2556)AAC>AGC	p.N852S	CELSR3_uc003cuf.1_Missense_Mutation_p.N922S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	852	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGATGAGTGTTGGCATCTGT	0.343													C	48697513	T	C	48697513	3	2	250	1	0	0	0	0	1	0	0	0	3223	1725	60	3	7523	3	CELSR3	3	48697513	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	90676	48697513	149324917	281	124209											
CELSR3	1951	broad.mit.edu	37	chr3	48699725	48699725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgcccaatggctggaCgccgtgttcaatccccagct	12	15	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48699725C>T	uc003cul.2	-	1	624	c.343G>A	c.(343-345)GTC>ATC	p.V115I	CELSR3_uc003cuf.1_Missense_Mutation_p.V185I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	115	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AATGGCTGGACGCCGTGTTCA	0.632													T	48699725	C	T	48699725	3	4	250	1	0	0	0	0	1	0	0	0	3223	536	19	1	9735	1	CELSR3	3	48699725	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2212	48699725	149322705	282	124210											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717524	48717524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctctaggtagcagcGgatgacaccctcatcctcat	8	15	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48717524G>A	uc003cun.2	-	6	1325	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	NCKIPSD_uc003cum.2_Missense_Mutation_p.R404C	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	411					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTAGCAGCGGATGACACCC	0.602													A	48717524	G	A	48717524	3	1	250	1	0	0	0	0	1	0	0	0	10225	1116	39	1	969	1	NCKIPSD	3	48717524	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	17799	48717524	149304906	283	124211											
PRKAR2A	5576	broad.mit.edu	37	chr3	48789613	48789613	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaacttttcttacctaaGcatttgacatctccaactgc	4	11	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:48789613G>T	uc010hki.1	-	10	1318	c.1077C>A	c.(1075-1077)TGC>TGA	p.C359*	PRKAR2A_uc003cux.1_Nonsense_Mutation_p.C359*|PRKAR2A_uc003cuy.1_Nonsense_Mutation_p.C337*	NM_004157	NP_004148	P13861	KAP2_HUMAN	cAMP-dependent protein kinase, regulatory	359	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		TCTTACCTAAGCATTTGACAT	0.418													T	48789613	G	T	48789613	4	4	250	1	0	0	0	0	0	1	0	0	12505	963	34	5	145	5	PRKAR2A	3	48789613	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	72089	48789613	149232817	284	124212											
IMPDH2	3615	broad.mit.edu	37	chr3	49064427	49064427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaatttcatttgcctcCttcagtgtgatgcctgcagg	10	10	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49064427C>A	uc003cvt.2	-	6	677	c.585G>T	c.(583-585)AAG>AAT	p.K195N		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	195	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				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)	CATTTGCCTCCTTCAGTGTGA	0.522													A	49064427	C	A	49064427	3	1	250	1	0	0	0	0	1	0	0	0	7727	680	24	5	995	5	IMPDH2	3	49064427	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	274814	49064427	148958003	285	124213											
AMT	275	broad.mit.edu	37	chr3	49457752	49457752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagatgcctccagcctcGttggtaaacagcgacagtgt	10	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49457752G>A	uc003cww.2	-	4	492	c.363C>T	c.(361-363)AAC>AAT	p.N121N	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Silent_p.N121N|AMT_uc011bco.1_Intron|AMT_uc003cwy.2_Silent_p.N73N|AMT_uc011bcp.1_Silent_p.N24N|AMT_uc011bcq.1_Silent_p.N65N	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	121					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				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)	CTCCAGCCTCGTTGGTAAACA	0.552													A	49457752	G	A	49457752	2	1	250	1	0	0	0	0	0	0	0	1	589	1136	40	1		1	AMT	3	49457752	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	393325	49457752	148564678	286	124214											
DAG1	1605	broad.mit.edu	37	chr3	49568441	49568441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccacagtgagctgcagtCggtgaggacagcctccccag	13	13	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49568441C>T	uc003cxc.3	+	3	915	c.497C>T	c.(496-498)TCG>TTG	p.S166L		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	166	Required for laminin recognition.				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTGCAGTCGGTGAGGACA	0.597													T	49568441	C	T	49568441	3	4	250	1	0	0	0	0	1	0	0	0	4225	893	31	1	503	1	DAG1	3	49568441	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	110689	49568441	148453989	287	124215											
BSN	8927	broad.mit.edu	37	chr3	49699943	49699943	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccacgcatataagcgTgaggagggctacatcctgga	14	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49699943T>C	uc003cxe.3	+	6	10779	c.10665T>C	c.(10663-10665)CGT>CGC	p.R3555R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3555					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CATATAAGCGTGAGGAGGGCT	0.597													C	49699943	T	C	49699943	2	2	250	1	0	0	0	0	0	0	0	1	1530	1683	59	3		3	BSN	3	49699943	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	131502	49699943	148322487	288	124216											
AMIGO3	386724	broad.mit.edu	37	chr3	49756465	49756465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgctcgtccaagtgcaccAagcggttattgaacagaagc	10	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:49756465A>G	uc003cxj.2	-	1	774	c.434T>C	c.(433-435)TTG>TCG	p.L145S	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	145	Extracellular (Potential).|LRR 4.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAAGTGCACCAAGCGGTTATT	0.622											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	49756465	A	G	49756465	3	3	250	1	0	0	0	0	1	0	0	0	577	131	5	3	1084	3	AMIGO3	3	49756465	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	56522	49756465	148265965	289	124217											
GNAT1	2779	broad.mit.edu	37	chr3	50231210	50231210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccgacctggagcgcctGgtaaccccgggctacgtgcc	12	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:50231210G>A	uc003cym.2	+	5	590	c.474G>A	c.(472-474)CTG>CTA	p.L158L	GNAT1_uc003cyl.2_Silent_p.L158L	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	158					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGAGCGCCTGGTAACCCCGG	0.532													A	50231210	G	A	50231210	2	1	250	1	0	0	0	0	0	0	0	1	6511	1335	47	4		4	GNAT1	3	50231210	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	474745	50231210	147791220	290	124218											
CYB561D2	11068	broad.mit.edu	37	chr3	50388931	50388931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgcttctggcgctgccGcccaccttgtggccctgggc	13	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:50388931G>A	uc003dak.2	+	1	643	c.67G>A	c.(67-69)GCC>ACC	p.A23T	NPRL2_uc003dai.1_5'Flank|NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dal.2_Missense_Mutation_p.A23T|CYB561D2_uc003dam.2_Missense_Mutation_p.A23T	NM_007022	NP_008953	O14569	C56D2_HUMAN	cytochrome b-561 domain containing 2	23	Helical; (Potential).|Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGCGCTGCCGCCCACCTTGT	0.577													A	50388931	G	A	50388931	3	1	250	1	0	0	0	0	1	0	0	0	4121	1087	38	1	69	1	CYB561D2	3	50388931	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	157721	50388931	147633499	291	124219											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50685366	50685366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactatgcgggtagactaCgaccaggtgaagatcaagga	13	9	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:50685366C>T	uc003day.1	+	13	1634	c.1038C>T	c.(1036-1038)TAC>TAT	p.Y346Y	MAPKAPK3_uc003daz.1_Silent_p.Y346Y|MAPKAPK3_uc003dba.1_Silent_p.Y346Y|MAPKAPK3_uc010hlr.1_Silent_p.Y346Y	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	346					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			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGGTAGACTACGACCAGGTGA	0.552													T	50685366	C	T	50685366	2	4	250	1	0	0	0	0	0	0	0	1	9290	547	19	1		1	MAPKAPK3	3	50685366	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	296435	50685366	147337064	292	124220											
ACY1	95	broad.mit.edu	37	chr3	52021073	52021073	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacacagcagcagagaAgctggtacgtggcaccccag	15	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52021073A>C	uc003dcp.2	+	9	714	c.653A>C	c.(652-654)AAG>ACG	p.K218T	ACY1_uc011bea.1_Missense_Mutation_p.K308T|ACY1_uc011beb.1_Missense_Mutation_p.K218T|ACY1_uc003dcq.2_Missense_Mutation_p.K218T	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	218					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				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)	GCAGCAGAGAAGCTGGTACGT	0.582													C	52021073	A	C	52021073	3	2	250	1	0	0	0	0	1	0	0	0	226	72	3	5	683	5	ACY1	3	52021073	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1335707	52021073	146001357	293	124221											
ALAS1	211	broad.mit.edu	37	chr3	52237967	52237967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaagaacttccaggaCatcatgcaaaagcaaagacc	8	11	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52237967C>T	uc003dcy.1	+	5	853	c.516C>T	c.(514-516)GAC>GAT	p.D172D	ALAS1_uc003dcz.1_Silent_p.D172D|ALAS1_uc011bec.1_Silent_p.D189D	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	172					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				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)	ACTTCCAGGACATCATGCAAA	0.438													T	52237967	C	T	52237967	2	4	250	1	0	0	0	0	0	0	0	1	484	477	17	4		4	ALAS1	3	52237967	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	216894	52237967	145784463	294	124222											
NISCH	11188	broad.mit.edu	37	chr3	52524132	52524132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcatgtggtcctcggtGgtgttctaccagaccccagg	11	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52524132G>A	uc011beg.1	+	19	3570	c.3498G>A	c.(3496-3498)GTG>GTA	p.V1166V	NISCH_uc003ded.3_Silent_p.V1166V|NISCH_uc003dee.3_Silent_p.V655V|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1166					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				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)		GGTCCTCGGTGGTGTTCTACC	0.612													A	52524132	G	A	52524132	2	1	250	1	0	0	0	0	0	0	0	1	10432	1335	47	4		4	NISCH	3	52524132	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	286165	52524132	145498298	295	124223											
GNL3	26354	broad.mit.edu	37	chr3	52728093	52728093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagaagagacaggggAggcactgtctgaggagacta	16	7	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52728093A>G	uc003dfd.2	+	14	1714	c.1541A>G	c.(1540-1542)GAG>GGG	p.E514G	GNL3_uc003dfe.2_Missense_Mutation_p.E502G|GNL3_uc003dff.2_Missense_Mutation_p.E502G	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	514	Acidic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAGACAGGGGAGGCACTGTCT	0.438													G	52728093	A	G	52728093	3	3	250	1	0	0	0	0	1	0	0	0	6537	304	11	3	1595	3	GNL3	3	52728093	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	203961	52728093	145294337	296	124224											
SFMBT1	51460	broad.mit.edu	37	chr3	52962301	52962301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaaaggatcgccgtgcGtggttctcaggacgcaagtc	12	12	1	0	rs112153185	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52962301G>A	uc003dgf.2	-	10	1523	c.954C>T	c.(952-954)CAC>CAT	p.H318H	SFMBT1_uc010hmr.2_Silent_p.H265H|SFMBT1_uc003dgg.2_Silent_p.H318H|SFMBT1_uc003dgh.2_Silent_p.H318H	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	318	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		ATCGCCGTGCGTGGTTCTCAG	0.488													A	52962301	G	A	52962301	2	1	250	1	0	0	0	0	0	0	0	1	14157	1136	40	1		1	SFMBT1	3	52962301	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	234208	52962301	145060129	297	124225											
SFMBT1	51460	broad.mit.edu	37	chr3	52965033	52965033	+	Frame_Shift_Del	DEL	T	T	-													tctcttgccactcagcttcaTtttttagatgtctaatggct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:52965032_52965032AT>A	uc003dgf.3	-	7	1343	c.720_720AT>T	c.(718-720)aatfs	p.N240fs	SFMBT1_uc010hmr.3_Frame_Shift_Del_p.N187fs|SFMBT1_uc003dgg.3_Frame_Shift_Del_p.N240fs|SFMBT1_uc003dgh.3_Frame_Shift_Del_p.N240fs	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	240					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)		ACTCAGCTTCATTTTTTAGAT	0.338													-	52965033	T	-	52965033	7	5	250	1	0	1	0	1	0	0	0	0	14157	1493	52	0	1941	0	SFMBT1	3	52965033	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	2732	52965033	145057397	298	124226											
PRKCD	5580	broad.mit.edu	37	chr3	53223077	53223077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctccccaccgccagatcCtacagggcctgaagtacaca	8	17	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:53223077C>A	uc003dgl.2	+	17	1911	c.1558C>A	c.(1558-1560)CTA>ATA	p.L520I	PRKCD_uc003dgm.2_Missense_Mutation_p.L520I	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	520	Protein kinase.				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			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		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)		CCGCCAGATCCTACAGGGCCT	0.577													A	53223077	C	A	53223077	3	1	250	1	0	0	0	0	1	0	0	0	12509	680	24	5	1616	5	PRKCD	3	53223077	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	258044	53223077	144799353	299	124227											
CCDC66	285331	broad.mit.edu	37	chr3	56600714	56600714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgaaatggtttcatctGtcccagctgaaaataaatct	6	8	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:56600714G>A	uc003dhz.2	+	5	724	c.637G>A	c.(637-639)GTC>ATC	p.V213I	CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.V179I|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.V213I	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	213										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GGTTTCATCTGTCCCAGCTGA	0.333													A	56600714	G	A	56600714	3	1	250	1	0	0	0	0	1	0	0	0	2838	1377	48	4	655	4	CCDC66	3	56600714	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3377637	56600714	141421716	300	124228											
C3orf63	23272	broad.mit.edu	37	chr3	56658877	56658877	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttaaaaagactatgtgtcGttgctgtatgttctgagcct	10	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:56658877G>A	uc003did.3	-	21	4215	c.4114C>T	c.(4114-4116)CGA>TGA	p.R1372*	C3orf63_uc003dib.3_Nonsense_Mutation_p.R491*|C3orf63_uc003dic.3_Nonsense_Mutation_p.R996*|C3orf63_uc003die.3_Nonsense_Mutation_p.R1433*	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1433										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		ACTATGTGTCGTTGCTGTATG	0.388													A	56658877	G	A	56658877	4	1	250	1	0	0	0	0	0	1	0	0	2239	1153	40	1	787	1	C3orf63	3	56658877	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	58163	56658877	141363553	301	124229											
IL17RD	54756	broad.mit.edu	37	chr3	57132009	57132009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccaagactggctcccgGtagcgcagtggaggaggatg	15	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:57132009G>A	uc003dil.2	-	12	1811	c.1722C>T	c.(1720-1722)TAC>TAT	p.Y574Y	IL17RD_uc003dik.2_Silent_p.Y550Y|IL17RD_uc010hna.2_Silent_p.Y430Y|IL17RD_uc011bex.1_Silent_p.Y430Y	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	574	Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGGCTCCCGGTAGCGCAGTG	0.517													A	57132009	G	A	57132009	2	1	250	1	0	0	0	0	0	0	0	1	7642	1256	44	4		4	IL17RD	3	57132009	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	473132	57132009	140890421	302	124230											
FEZF2	55079	broad.mit.edu	37	chr3	62356932	62356932	+	Frame_Shift_Del	DEL	G	G	-													ccgcaaaattcgcagacgaaGggcttgtagcccgcgtggat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:62356931_62356931AG>A	uc003dlh.2	-	2	1288	c.1081_1081CT>T	c.(1081-1083)ttcfs	p.F361fs	FEZF2_uc003dli.2_Frame_Shift_Del_p.F361fs	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	361					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)		TCGCAGACGAAGGGCTTGTAG	0.572													-	62356932	G	-	62356932	7	5	250	1	0	1	0	1	0	0	0	0	5826	987	35	0	307	0	FEZF2	3	62356932	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	5224923	62356932	135665498	303	124231											
CADPS	8618	broad.mit.edu	37	chr3	62518693	62518693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactccatttcgggcgcaaTactcgtctagtacaaacacc	8	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:62518693T>C	uc003dll.2	-	13	2504	c.2144A>G	c.(2143-2145)TAT>TGT	p.Y715C	CADPS_uc003dlk.1_Missense_Mutation_p.Y219C|CADPS_uc003dlm.2_Missense_Mutation_p.Y715C|CADPS_uc003dln.2_Missense_Mutation_p.Y698C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	715					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		TCGGGCGCAATACTCGTCTAG	0.498													C	62518693	T	C	62518693	3	2	250	1	0	0	0	0	1	0	0	0	2570	1406	49	3	2062	3	CADPS	3	62518693	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	161761	62518693	135503737	304	124232											
FOXP1	27086	broad.mit.edu	37	chr3	71096238	71096238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaactgctgggtagccacCtgctgttgctgtaagaaatc	11	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:71096238C>A	uc003dol.2	-	6	842	c.519G>T	c.(517-519)CAG>CAT	p.Q173H	FOXP1_uc003dom.2_Missense_Mutation_p.Q97H|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q173H|FOXP1_uc003dop.2_Missense_Mutation_p.Q173H|FOXP1_uc003doq.1_Missense_Mutation_p.Q172H|FOXP1_uc003doi.2_Missense_Mutation_p.Q73H|FOXP1_uc003doj.2_Missense_Mutation_p.Q73H|FOXP1_uc003dok.2_Translation_Start_Site	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	173	Gln-rich.			Q -> R (in Ref. 3; BAB55005).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGTAGCCACCTGCTGTTGCT	0.468			T	PAX5	ALL								A	71096238	C	A	71096238	3	1	250	1	0	0	0	0	1	0	0	0	6026	680	24	5	1562	5	FOXP1	3	71096238	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	8577545	71096238	126926192	305	124233											
ROBO2	6092	broad.mit.edu	37	chr3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C													ggccaatgtccctctacctcINScccccccagtccagcccctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					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	p.V1079fs*22(2)|p.V1095fs*22(1)		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)		TCCCTCTACCTCCCCCCCCAGT	0.431													C	77657039	-	C	77657038	7	5	250	1	0	1	1	0	0	0	0	0	13514	855	30	0	3310	0	ROBO2	3	77657038	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	6560800	77657038	120365392	306	124234											
COL8A1	1295	broad.mit.edu	37	chr3	99514656	99514656	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccagtgaagtttaacaaActgctgtataacggcagaca	9	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:99514656A>G	uc003dtg.1	+	5	2156	c.1911A>G	c.(1909-1911)AAA>AAG	p.K637K	COL8A1_uc003dth.1_Silent_p.K637K|COL8A1_uc003dti.1_Silent_p.K638K	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	637	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						AGTTTAACAAACTGCTGTATA	0.537													G	99514656	A	G	99514656	2	3	250	1	0	0	0	0	0	0	0	1	3705	40	2	3		3	COL8A1	3	99514656	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	21857618	99514656	98507774	307	124235											
FAM55C	91775	broad.mit.edu	37	chr3	101540395	101540395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgagctccattatgtggCgaatgagctgaatggcattg	12	7	0	3	rs139135706	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:101540395C>T	uc003dvn.2	+	8	1914	c.1277C>T	c.(1276-1278)GCG>GTG	p.A426V	FAM55C_uc010hpn.2_Missense_Mutation_p.A426V	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	426						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						CATTATGTGGCGAATGAGCTG	0.522													T	101540395	C	T	101540395	3	4	250	1	0	0	0	0	1	0	0	0	5586	768	27	1	1295	1	FAM55C	3	101540395	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2025739	101540395	96482035	308	124236											
MYH15	22989	broad.mit.edu	37	chr3	108163557	108163557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttgctttcagttcctccCtctgaaactctgatttctcc	5	14	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:108163557C>A	uc003dxa.1	-	23	2702	c.2645G>T	c.(2644-2646)AGG>ATG	p.R882M		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	882	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CAGTTCCTCCCTCTGAAACTC	0.423													A	108163557	C	A	108163557	3	1	250	1	0	0	0	0	1	0	0	0	10034	681	24	5	3275	5	MYH15	3	108163557	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6623162	108163557	89858873	309	124237											
DZIP3	9666	broad.mit.edu	37	chr3	108363261	108363261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttaccgcaatccaaacaGtttgacttatgcctcctgtt	7	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:108363261G>A	uc003dxd.2	+	14	1814	c.1392G>A	c.(1390-1392)CAG>CAA	p.Q464Q	DZIP3_uc003dxf.1_Silent_p.Q464Q|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.Q464Q|DZIP3_uc003dxg.1_Silent_p.Q187Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	464					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AATCCAAACAGTTTGACTTAT	0.423													A	108363261	G	A	108363261	2	1	250	1	0	0	0	0	0	0	0	1	4865	1020	36	4		4	DZIP3	3	108363261	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	199704	108363261	89659169	310	124238											
DPPA2	151871	broad.mit.edu	37	chr3	109028172	109028172	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgctcatttgtttgaagtaGatgacctaagacaagaatgg	10	5	1	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:109028172G>T	uc003dxo.2	-	4	434	c.187C>A	c.(187-189)CTA>ATA	p.L63I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	63						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						GTTTGAAGTAGATGACCTAAG	0.318													T	109028172	G	T	109028172	3	4	250	1	0	0	0	0	1	0	0	0	4734	933	33	5	729	5	DPPA2	3	109028172	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	664911	109028172	88994258	311	124239											
ZBTB20	26137	broad.mit.edu	37	chr3	114069728	114069728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcagcctggctgtcccgCgccgccccaggcccaaactg	12	18	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:114069728C>T	uc003ebi.2	-	4	1377	c.1197G>A	c.(1195-1197)GCG>GCA	p.A399A	ZBTB20_uc003ebj.2_Silent_p.A326A|ZBTB20_uc010hqp.2_Silent_p.A326A|ZBTB20_uc003ebk.2_Silent_p.A326A|ZBTB20_uc003ebl.2_Silent_p.A326A|ZBTB20_uc003ebm.2_Silent_p.A326A|ZBTB20_uc003ebn.2_Silent_p.A326A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCTGTCCCGCGCCGCCCCAG	0.647													T	114069728	C	T	114069728	2	4	250	1	0	0	0	0	0	0	0	1	17526	755	27	1		1	ZBTB20	3	114069728	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5041556	114069728	83952702	312	124240											
C3orf1	51300	broad.mit.edu	37	chr3	119236144	119236144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcgaaaggcactccatgAgctaaaactggaagagtggt	13	7	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:119236144A>G	uc003ecn.2	+	6	902	c.689A>G	c.(688-690)GAG>GGG	p.E230G	C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	hypothetical protein LOC51300	230						integral to membrane|mitochondrial inner membrane	protein transporter activity				0				GBM - Glioblastoma multiforme(114;0.186)		GCACTCCATGAGCTAAAACTG	0.468													G	119236144	A	G	119236144	3	3	250	1	0	0	0	0	1	0	0	0	2206	304	11	3	711	3	C3orf1	3	119236144	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	5166416	119236144	78786286	313	124241											
POLQ	10721	broad.mit.edu	37	chr3	121187159	121187159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcacctacctgcccaTgggaagtaggcctttgccta	9	13	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:121187159T>C	uc003eee.3	-	23	6967	c.6838A>G	c.(6838-6840)ATG>GTG	p.M2280V	POLQ_uc003eed.2_Missense_Mutation_p.M1452V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2280					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TACCTGCCCATGGGAAGTAGG	0.358								DNA_polymerases_(catalytic_subunits)					C	121187159	T	C	121187159	3	2	250	1	0	0	0	0	1	0	0	0	12208	1464	51	3	966	3	POLQ	3	121187159	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1951015	121187159	76835271	314	124242											
GOLGB1	2804	broad.mit.edu	37	chr3	121416064	121416064	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatcttgcaaggtctgattCatctgtttgaccagagcctg	9	9	4	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:121416064C>T	uc003eei.3	-	13	3417	c.3291G>A	c.(3289-3291)ATG>ATA	p.M1097I	GOLGB1_uc010hrc.2_Missense_Mutation_p.M1102I|GOLGB1_uc003eej.3_Missense_Mutation_p.M1063I|GOLGB1_uc011bjm.1_Missense_Mutation_p.M983I|GOLGB1_uc010hrd.1_Missense_Mutation_p.M1061I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1097	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AGGTCTGATTCATCTGTTTGA	0.393													T	121416064	C	T	121416064	3	4	250	1	0	0	0	0	1	0	0	0	6565	826	29	4	6528	4	GOLGB1	3	121416064	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	228905	121416064	76606366	315	124243											
SLC15A2	6565	broad.mit.edu	37	chr3	121641106	121641106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaatatacaataaaccacCccctgaaggaaacatagtgg	6	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:121641106C>T	uc003eep.2	+	8	890	c.737C>T	c.(736-738)CCC>CTC	p.P246L	SLC15A2_uc011bjn.1_Missense_Mutation_p.P215L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	246					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AATAAACCACCCCCTGAAGGA	0.323													T	121641106	C	T	121641106	3	4	250	1	0	0	0	0	1	0	0	0	14399	623	22	4	767	4	SLC15A2	3	121641106	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	225042	121641106	76381324	316	124244											
MYLK	4638	broad.mit.edu	37	chr3	123333139	123333139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtctatctggaagtggCgggactccctgattgactgg	14	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:123333139C>T	uc003ego.2	-	34	5840	c.5558G>A	c.(5557-5559)CGC>CAC	p.R1853H	uc003egk.2_Intron|MYLK_uc003egl.2_Missense_Mutation_p.R93H|MYLK_uc003egm.2_Missense_Mutation_p.R92H|MYLK_uc010hrr.2_Missense_Mutation_p.R288H|MYLK_uc011bjv.1_Missense_Mutation_p.R653H|MYLK_uc011bjw.1_Missense_Mutation_p.R1852H|MYLK_uc003egp.2_Missense_Mutation_p.R1784H|MYLK_uc003egq.2_Missense_Mutation_p.R1802H|MYLK_uc003egr.2_Missense_Mutation_p.R1733H|MYLK_uc003egs.2_Missense_Mutation_p.R1677H	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1853	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGAAGTGGCGGGACTCCCT	0.498													T	123333139	C	T	123333139	3	4	250	1	0	0	0	0	1	0	0	0	10056	768	27	1	190	1	MYLK	3	123333139	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1692033	123333139	74689291	317	124245											
KALRN	8997	broad.mit.edu	37	chr3	124201667	124201667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcaggagatacaacagCggcatggtctggccaactcc	11	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:124201667C>T	uc003ehg.2	+	28	4325	c.4198C>T	c.(4198-4200)CGG>TGG	p.R1400W	KALRN_uc010hrv.1_Missense_Mutation_p.R1391W|KALRN_uc003ehf.1_Missense_Mutation_p.R1400W|KALRN_uc011bjy.1_Missense_Mutation_p.R1391W|KALRN_uc003ehh.1_Missense_Mutation_p.R746W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1400	DH 1.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GATACAACAGCGGCATGGTCT	0.507													T	124201667	C	T	124201667	3	4	250	1	0	0	0	0	1	0	0	0	7975	759	27	1	4308	1	KALRN	3	124201667	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	868528	124201667	73820763	318	124246											
ITGB5	3693	broad.mit.edu	37	chr3	124485176	124485176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagaaacatagcacagcCtcctggtcatctttcactgg	8	11	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:124485176C>A	uc003eho.2	-	13	2331	c.2034G>T	c.(2032-2034)GAG>GAT	p.E678D	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	678	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		ATAGCACAGCCTCCTGGTCAT	0.572													A	124485176	C	A	124485176	3	1	250	1	0	0	0	0	1	0	0	0	7898	680	24	5	377	5	ITGB5	3	124485176	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	283509	124485176	73537254	319	124247											
HEG1	57493	broad.mit.edu	37	chr3	124731613	124731613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaacgtgaagctgggctgTactctgctgtaacgccaagc	14	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:124731613T>C	uc003ehs.3	-	6	2878	c.2810A>G	c.(2809-2811)TAC>TGC	p.Y937C	HEG1_uc011bke.1_Missense_Mutation_p.Y1037C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	937	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						AGCTGGGCTGTACTCTGCTGT	0.502													C	124731613	T	C	124731613	3	2	250	1	0	0	0	0	1	0	0	0	7044	1638	57	3	1383	3	HEG1	3	124731613	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	246437	124731613	73290817	320	124248											
SNX4	8723	broad.mit.edu	37	chr3	125216990	125216990	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaattcactatatcgccgCcatagtgagtctgttaggac	8	10	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:125216990C>T	uc003eib.2	-	3	354	c.312G>A	c.(310-312)TGG>TGA	p.W104*	SNX4_uc011bkf.1_5'UTR	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	104	PX.				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TATATCGCCGCCATAGTGAGT	0.378													T	125216990	C	T	125216990	4	4	250	1	0	0	0	0	0	1	0	0	14904	740	26	2	1088	2	SNX4	3	125216990	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	485377	125216990	72805440	321	124249											
KLF15	28999	broad.mit.edu	37	chr3	126062715	126062715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcgagcgcctgtgccgcGacagctcgtcagagcgcgag	16	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:126062715G>A	uc011bkk.1	-	3	1288	c.1106C>T	c.(1105-1107)TCG>TTG	p.S369L		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	369	C2H2-type 2.					nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CCTGTGCCGCGACAGCTCGTC	0.667													A	126062715	G	A	126062715	3	1	250	1	0	0	0	0	1	0	0	0	8343	1059	37	1	148	1	KLF15	3	126062715	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	845725	126062715	71959715	322	124250											
RPN1	6184	broad.mit.edu	37	chr3	128339335	128339335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttctcattctcaatgtaCgtgtctttcttgagcttgcc	7	11	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:128339335C>T	uc003ekr.1	-	10	1819	c.1743G>A	c.(1741-1743)ACG>ACA	p.T581T	RPN1_uc011bkq.1_Silent_p.T409T	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	581	Cytoplasmic (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		TCTCAATGTACGTGTCTTTCT	0.577			T	EVI1	AML								T	128339335	C	T	128339335	2	4	250	1	0	0	0	0	0	0	0	1	13607	523	19	1		1	RPN1	3	128339335	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2276620	128339335	69683095	323	124251											
IFT122	55764	broad.mit.edu	37	chr3	129239022	129239022	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtcttcccttagatgTtccattctgaggactatgag	9	10	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:129239022T>G	uc003emm.2	+	30	3846	c.3640T>G	c.(3640-3642)TTC>GTC	p.F1214V	IFT122_uc003eml.2_Missense_Mutation_p.F1265V|IFT122_uc003emn.2_Missense_Mutation_p.F1155V|IFT122_uc003emo.2_Missense_Mutation_p.F1104V|IFT122_uc003emp.2_Missense_Mutation_p.F1064V|IFT122_uc010htc.2_Missense_Mutation_p.F1207V|IFT122_uc011bky.1_Missense_Mutation_p.F1005V|IFT122_uc003emq.2_Missense_Mutation_p.F1054V|IFT122_uc003emr.2_Missense_Mutation_p.F967V|IFT122_uc011bla.1_Missense_Mutation_p.F988V|IFT122_uc010hte.2_Missense_Mutation_p.F540V|IFT122_uc003ems.2_Missense_Mutation_p.F596V	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	1214					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CCCTTAGATGTTCCATTCTGA	0.602													G	129239022	T	G	129239022	3	3	250	1	0	0	0	0	1	0	0	0	7555	1725	60	5	3918	5	IFT122	3	129239022	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	899687	129239022	68783408	324	124252											
PLXND1	23129	broad.mit.edu	37	chr3	129282078	129282078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaatggctcccccacCgtctcctgaggggcacgggg	15	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:129282078C>T	uc003emx.2	-	26	4627	c.4527G>A	c.(4525-4527)ACG>ACA	p.T1509T	PLXND1_uc011blb.1_Silent_p.T177T	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1509	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GCTCCCCCACCGTCTCCTGAG	0.627													T	129282078	C	T	129282078	2	4	250	1	0	0	0	0	0	0	0	1	12127	639	23	1		1	PLXND1	3	129282078	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	43056	129282078	68740352	325	124253											
NEK11	79858	broad.mit.edu	37	chr3	130992390	130992390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattttcaacagtgtgatgGccaggaccaagatgaaacgc	10	9	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:130992390G>A	uc003eny.2	+	17	2016	c.1690G>A	c.(1690-1692)GCC>ACC	p.A564T	NEK11_uc003eoa.2_Intron|NEK11_uc003enz.2_Missense_Mutation_p.A382T|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.A380T|NEK11_uc011bll.1_Missense_Mutation_p.A459T	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	564					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			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						CAGTGTGATGGCCAGGACCAA	0.488													A	130992390	G	A	130992390	3	1	250	1	0	0	0	0	1	0	0	0	10323	1203	42	2	1766	2	NEK11	3	130992390	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1710312	130992390	67030040	326	124254											
SLCO2A1	6578	broad.mit.edu	37	chr3	133698394	133698394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttctcaatggtggtgagGctgctcttgaagtaggcgct	14	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:133698394G>A	uc003eqa.3	-	2	439	c.165C>T	c.(163-165)AGC>AGT	p.S55S	SLCO2A1_uc003eqb.3_Silent_p.S55S|SLCO2A1_uc011blv.1_Silent_p.S55S|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	55	Extracellular (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TGGTGGTGAGGCTGCTCTTGA	0.562													A	133698394	G	A	133698394	2	1	250	1	0	0	0	0	0	0	0	1	14726	1194	42	2		2	SLCO2A1	3	133698394	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2706004	133698394	64324036	327	124255											
EPHB1	2047	broad.mit.edu	37	chr3	134884866	134884866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgctggctcggcagcgGccggggtcgtgttcgttgtg	18	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:134884866G>A	uc003eqt.2	+	8	1862	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	EPHB1_uc003equ.2_Missense_Mutation_p.A109T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	548	Helical; (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CTCGGCAGCGGCCGGGGTCGT	0.567													A	134884866	G	A	134884866	3	1	250	1	0	0	0	0	1	0	0	0	5174	1203	42	2	1672	2	EPHB1	3	134884866	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1186472	134884866	63137564	328	124256											
MSL2	55167	broad.mit.edu	37	chr3	135871374	135871374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgcttctattatatcccGtgccagtgtagtctgtgtta	8	9	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:135871374G>A	uc003eqx.1	-	2	1082	c.349C>T	c.(349-351)CGG>TGG	p.R117W	MSL2_uc011bmb.1_Missense_Mutation_p.R43W	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	117					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						ATTATATCCCGTGCCAGTGTA	0.388													A	135871374	G	A	135871374	3	1	250	1	0	0	0	0	1	0	0	0	9878	1144	40	1	1388	1	MSL2	3	135871374	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	986508	135871374	62151056	329	124257											
TRIM42	287015	broad.mit.edu	37	chr3	140407048	140407048	+	Frame_Shift_Del	DEL	C	C	-													gactccctgccctccccctaCcccgtgcactcagaaacaat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:140407047_140407047AC>A	uc003eto.2	+	2	1729	c.1523_1523AC>A	c.(1522-1524)tacfs	p.Y508fs		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	508						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						CCCTCCCCCTACCCCGTGCAC	0.577													-	140407048	C	-	140407048	7	5	250	1	0	1	0	1	0	0	0	0	16514	518	18	0	1534	0	TRIM42	3	140407048	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	4535674	140407048	57615382	330	124258											
ZIC1	7545	broad.mit.edu	37	chr3	147127972	147127972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtcccgccaccactccGcgggcgacgtggccgaacga	14	18	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:147127972G>A	uc003ewe.2	+	1	792	c.73G>A	c.(73-75)GCG>ACG	p.A25T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	25					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			ovary(1)|central_nervous_system(1)	2						CCACCACTCCGCGGGCGACGT	0.711													A	147127972	G	A	147127972	3	1	250	1	0	0	0	0	1	0	0	0	17675	1087	38	1	75	1	ZIC1	3	147127972	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6720924	147127972	50894458	331	124259											
ZIC1	7545	broad.mit.edu	37	chr3	147128612	147128612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccgagcagctggccaaccCcaaaaagtcgtgcaacaaaa	9	14	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:147128612C>A	uc003ewe.2	+	1	1432	c.713C>A	c.(712-714)CCC>CAC	p.P238H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	238	C2H2-type 1; atypical.				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			ovary(1)|central_nervous_system(1)	2						CTGGCCAACCCCAAAAAGTCG	0.592													A	147128612	C	A	147128612	3	1	250	1	0	0	0	0	1	0	0	0	17675	623	22	5	715	5	ZIC1	3	147128612	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	640	147128612	50893818	332	124260											
TIPARP	25976	broad.mit.edu	37	chr3	156422868	156422868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatgatgaccagagttAcccttattttgttatccaat	5	7	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:156422868A>G	uc003fav.2	+	6	2170	c.1922A>G	c.(1921-1923)TAC>TGC	p.Y641C	TIPARP_uc003faw.2_Missense_Mutation_p.Y641C	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	641	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACCAGAGTTACCCTTATTTT	0.204													G	156422868	A	G	156422868	3	3	250	1	0	0	0	0	1	0	0	0	15921	391	14	3	1940	3	TIPARP	3	156422868	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	9294256	156422868	41599562	333	124261											
IFT80	57560	broad.mit.edu	37	chr3	160018781	160018781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttggagatgaaataaagCgcccttcatatgaatataaa	7	5	1	3	rs147955112		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:160018781C>T	uc011boy.1	-	12	1638	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.R265H|IFT80_uc003fdd.1_Missense_Mutation_p.R85H|IFT80_uc003fde.1_Missense_Mutation_p.R265H	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	402						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAATAAAGCGCCCTTCATA	0.313													T	160018781	C	T	160018781	3	4	250	1	0	0	0	0	1	0	0	0	7564	768	27	1	1164	1	IFT80	3	160018781	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3595913	160018781	38003649	334	124262											
PHC3	80012	broad.mit.edu	37	chr3	169896574	169896574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatacctgtacagcatgtCggtctgaaccactgtagaca	9	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:169896574C>T	uc010hws.1	-	2	195	c.131G>A	c.(130-132)CGA>CAA	p.R44Q	PHC3_uc003fgl.2_Missense_Mutation_p.R56Q|PHC3_uc011bpq.1_Missense_Mutation_p.R56Q|PHC3_uc011bpr.1_Missense_Mutation_p.R56Q|PHC3_uc003fgm.2_Missense_Mutation_p.R56Q|PHC3_uc003fgo.1_Missense_Mutation_p.R44Q|PHC3_uc003fgp.3_Missense_Mutation_p.R56Q|PHC3_uc003fgq.3_Missense_Mutation_p.R56Q|PHC3_uc003fgr.1_RNA	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	44					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TACAGCATGTCGGTCTGAACC	0.363													T	169896574	C	T	169896574	3	4	250	1	0	0	0	0	1	0	0	0	11818	884	31	1	2876	1	PHC3	3	169896574	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9877793	169896574	28125856	335	124263											
SLC7A14	57709	broad.mit.edu	37	chr3	170201192	170201192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgtcagtcctgcaacCgacccaatggccactacgaa	8	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:170201192C>T	uc003fgz.2	-	6	1342	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	342	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			GTCCTGCAACCGACCCAATGG	0.527											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	170201192	C	T	170201192	2	4	250	1	0	0	0	0	0	0	0	1	14696	639	23	1		1	SLC7A14	3	170201192	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	304618	170201192	27821238	336	124264											
FNDC3B	64778	broad.mit.edu	37	chr3	171965513	171965513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccggacctggagatatgcCgcctcagttttttccccagc	9	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:171965513C>T	uc003fhy.2	+	5	627	c.455C>T	c.(454-456)CCG>CTG	p.P152L	FNDC3B_uc003fhz.3_Missense_Mutation_p.P152L|FNDC3B_uc003fia.2_Missense_Mutation_p.P83L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	152						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	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)		GGAGATATGCCGCCTCAGTTT	0.483													T	171965513	C	T	171965513	3	4	250	1	0	0	0	0	1	0	0	0	5970	652	23	1	469	1	FNDC3B	3	171965513	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1764321	171965513	26056917	337	124265											
PIK3CA	5290	broad.mit.edu	37	chr3	178916891	178916891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacgactttgtgaccttcGgctttttcaaccctttttaa	6	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:178916891G>A	uc003fjk.2	+	2	435	c.278G>A	c.(277-279)CGG>CAG	p.R93Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	93	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	p.R93W(5)|p.R93Q(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TGTGACCTTCGGCTTTTTCAA	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916891	G	A	178916891	3	1	250	1	0	0	0	0	1	0	0	0	11913	1116	39	1	280	1	PIK3CA	3	178916891	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6951378	178916891	19105539	338	124266											
MFN1	55669	broad.mit.edu	37	chr3	179076708	179076708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggattggccatataaccaAttgcttcctaagtgttgaag	10	7	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:179076708A>G	uc003fjs.2	+	4	455	c.329A>G	c.(328-330)AAT>AGT	p.N110S	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.N138S	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	110	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	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)			CATATAACCAATTGCTTCCTA	0.383													G	179076708	A	G	179076708	3	3	250	1	0	0	0	0	1	0	0	0	9523	101	4	3	339	3	MFN1	3	179076708	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	159817	179076708	18945722	339	124267											
ACTL6A	86	broad.mit.edu	37	chr3	179288016	179288016	+	Frame_Shift_Del	DEL	A	A	-													atggaggccatttcacctctAaaaaatgggatgggtatgat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:179288015_179288015TA>T	uc003fjw.3	+	2	436	c.263_263TA>T	c.(262-264)ctafs	p.L88fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.L46fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.L46fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	88					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	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)			ATTTCACCTCTAAAAAATGGG	0.398													-	179288016	A	-	179288016	7	5	250	1	0	1	0	1	0	0	0	0	198	349	13	0	274	0	ACTL6A	3	179288016	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	211308	179288016	18734414	340	124268											
LAMP3	27074	broad.mit.edu	37	chr3	182870290	182870290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatctccgaggtgaaaaaAcctaaatcaagttagataga	8	6	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:182870290A>C	uc003flh.3	-	3	985	c.761T>G	c.(760-762)GTT>GGT	p.V254G		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	254	Lumenal (Potential).				cell proliferation	integral to membrane|lysosomal membrane				ovary(2)|central_nervous_system(1)	3	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)			AGGTGAAAAAACCTAAATCAA	0.458													C	182870290	A	C	182870290	3	2	250	1	0	0	0	0	1	0	0	0	8619	57	2	5	505	5	LAMP3	3	182870290	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3582274	182870290	15152140	341	124269											
MCF2L2	23101	broad.mit.edu	37	chr3	183041028	183041028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagctggtactcacagtgcGgtgatttacccactgaccgt	10	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:183041028G>T	uc003fli.1	-	6	688	c.598C>A	c.(598-600)CGC>AGC	p.R200S	MCF2L2_uc003flj.1_Missense_Mutation_p.R200S|MCF2L2_uc003flp.1_Missense_Mutation_p.R235S	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	200					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	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)			CTCACAGTGCGGTGATTTACC	0.512													T	183041028	G	T	183041028	3	4	250	1	0	0	0	0	1	0	0	0	9380	1116	39	5	2846	5	MCF2L2	3	183041028	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	170738	183041028	14981402	342	124270											
ATP13A4	84239	broad.mit.edu	37	chr3	193220287	193220287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataagtttacttacctttaGgtctggctttcttatggctc	7	9	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:193220287G>T	uc003ftd.2	-	3	484	c.376C>A	c.(376-378)CTA>ATA	p.L126I	ATP13A4_uc003fte.1_Missense_Mutation_p.L126I|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	126	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	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)		CTTACCTTTAGGTCTGGCTTT	0.413													T	193220287	G	T	193220287	3	4	250	1	0	0	0	0	1	0	0	0	1126	991	35	5	3326	5	ATP13A4	3	193220287	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	10179259	193220287	4802143	343	124271											
MUC20	200958	broad.mit.edu	37	chr3	195452850	195452850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtccacctccgatccacCagctctgcctgactccactg	6	20	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:195452850C>T	uc010hzo.2	+	3	989	c.863C>T	c.(862-864)CCA>CTA	p.P288L	MUC20_uc010hzp.2_Missense_Mutation_p.P253L|MUC20_uc011bte.1_RNA	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	459	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	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)		TCCGATCCACCAGCTCTGCCT	0.577													T	195452850	C	T	195452850	3	4	250	1	0	0	0	0	1	0	0	0	9976	594	21	4	873	4	MUC20	3	195452850	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2232563	195452850	2569580	344	124272											
MUC4	4585	broad.mit.edu	37	chr3	195495991	195495991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcataggacctgctcccGtccgtggagaggatggcttg	16	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr3:195495991G>A	uc011bto.1	-	8	13507	c.13047C>T	c.(13045-13047)GAC>GAT	p.D4349D	MUC4_uc003fuz.2_Missense_Mutation_p.T105M|MUC4_uc003fva.2_Translation_Start_Site|MUC4_uc003fvb.2_Missense_Mutation_p.T23M|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T23M|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Translation_Start_Site|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.D41D|MUC4_uc011bti.1_Silent_p.D41D|MUC4_uc011btj.1_Silent_p.D218D|MUC4_uc011btk.1_Translation_Start_Site|MUC4_uc011btl.1_Translation_Start_Site|MUC4_uc011btm.1_Silent_p.D166D|MUC4_uc011btn.1_Translation_Start_Site|MUC4_uc003fvo.2_Silent_p.D241D|MUC4_uc003fvp.2_Silent_p.D190D|MUC4_uc010hzu.1_Silent_p.D1089D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1234	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		ACCTGCTCCCGTCCGTGGAGA	0.612													A	195495991	G	A	195495991	2	1	250	1	0	0	0	0	0	0	0	1	9978	1136	40	1		1	MUC4	3	195495991	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	43141	195495991	2526439	345	124273											
TMEM175	84286	broad.mit.edu	37	chr4	951785	951785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtgcgcaaggccacgcGggccatggggctgctgaaca	16	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:951785G>A	uc003gbq.2	+	11	1114	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	TMEM175_uc003gbr.2_Missense_Mutation_p.R257Q|TMEM175_uc003gbu.2_Missense_Mutation_p.R257Q|TMEM175_uc003gbs.2_Missense_Mutation_p.R222Q|TMEM175_uc003gbt.2_Missense_Mutation_p.R222Q|TMEM175_uc003gbv.2_Missense_Mutation_p.R222Q|TMEM175_uc010ibm.2_Missense_Mutation_p.R155Q	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	339						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AAGGCCACGCGGGCCATGGGG	0.682													A	951785	G	A	951785	3	1	250	1	0	0	0	0	1	0	0	0	16088	1116	39	1	1054	1	TMEM175	4	951785	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		951785	190202491	346	124274											
ZFYVE28	57732	broad.mit.edu	37	chr4	2307120	2307120	+	Frame_Shift_Del	DEL	G	G	-													tagctgagagtggcccctcaGgggggagaggggcagagagg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:2307119_2307119AG>A	uc003gex.2	-	7	1268	c.948_948CT>T	c.(946-948)cctfs	p.P316fs	ZFYVE28_uc011bvk.2_Frame_Shift_Del_p.P246fs|ZFYVE28_uc011bvl.2_Frame_Shift_Del_p.P286fs|ZFYVE28_uc003gew.2_Frame_Shift_Del_p.P202fs	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	316					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						GTGGCCCCTCAGGGGGGAGAG	0.657													-	2307120	G	-	2307120	7	5	250	1	0	1	0	1	0	0	0	0	17667	1000	35	0	1740	0	ZFYVE28	4	2307120	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1355335	2307120	188847156	347	124275											
FAM193A	8603	broad.mit.edu	37	chr4	2648497	2648497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgttccgaggaggagctgCgcagagtcgccgaggagtgg	19	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:2648497C>T	uc010icl.2	+	5	727	c.376C>T	c.(376-378)CGC>TGC	p.R126C	FAM193A_uc010ick.2_Missense_Mutation_p.R326C|FAM193A_uc003gfd.2_Missense_Mutation_p.R126C|FAM193A_uc011bvm.1_Missense_Mutation_p.R126C|FAM193A_uc011bvn.1_Missense_Mutation_p.R126C|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	126	Potential.									ovary(3)	3						GGAGGAGCTGCGCAGAGTCGC	0.622													T	2648497	C	T	2648497	3	4	250	1	0	0	0	0	1	0	0	0	5524	768	27	1	386	1	FAM193A	4	2648497	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	341377	2648497	188505779	348	124276											
LYAR	55646	broad.mit.edu	37	chr4	4283517	4283517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagagacgttacctgaatcCacgcctgctgtttgatgtcg	11	10	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:4283517C>A	uc011bvy.1	-	4	373	c.230G>T	c.(229-231)TGG>TTG	p.W77L	LYAR_uc011bvx.1_5'Flank|LYAR_uc003ght.2_Missense_Mutation_p.W77L	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	77						nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACCTGAATCCACGCCTGCTG	0.448													A	4283517	C	A	4283517	3	1	250	1	0	0	0	0	1	0	0	0	9103	595	21	5	937	5	LYAR	4	4283517	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1635020	4283517	186870759	349	124277											
D4S234E	27065	broad.mit.edu	37	chr4	4411342	4411342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggccttcctcacctgcGtcgtcttcctggttgtctac	8	17	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:4411342G>A	uc011bvz.1	+	7	1570	c.289G>A	c.(289-291)GTC>ATC	p.V97I	D4S234E_uc011bwa.1_Missense_Mutation_p.V58I|D4S234E_uc003ghz.2_Missense_Mutation_p.V97I|D4S234E_uc003gia.2_Missense_Mutation_p.V97I|D4S234E_uc003gib.2_Missense_Mutation_p.V97I	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	97	Helical; Signal-anchor for type II membrane protein; (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CCTCACCTGCGTCGTCTTCCT	0.612													A	4411342	G	A	4411342	3	1	250	1	0	0	0	0	1	0	0	0	4214	1145	40	1	299	1	D4S234E	4	4411342	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	127825	4411342	186742934	350	124278											
CRMP1	1400	broad.mit.edu	37	chr4	5838617	5838617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtggccgctgcctgTgacctgcaagtccccactgg	14	14	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:5838617T>C	uc003gip.2	-	11	1086	c.985A>G	c.(985-987)ACA>GCA	p.T329A	CRMP1_uc003gin.1_Missense_Mutation_p.T241A|CRMP1_uc003giq.2_Missense_Mutation_p.T329A|CRMP1_uc003gir.2_Missense_Mutation_p.T324A|CRMP1_uc003gis.2_Missense_Mutation_p.T443A	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	329					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCGCTGCCTGTGACCTGCAAG	0.547													C	5838617	T	C	5838617	3	2	250	1	0	0	0	0	1	0	0	0	3890	1696	59	3	753	3	CRMP1	4	5838617	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1427275	5838617	185315659	351	124279											
SORCS2	57537	broad.mit.edu	37	chr4	7194811	7194811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcaagggggacgcgacGcacaaccaggcgatggtgca	16	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:7194811G>A	uc003gkb.3	+	1	438	c.438G>A	c.(436-438)ACG>ACA	p.T146T		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	146	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGGACGCGACGCACAACCAGG	0.726													A	7194811	G	A	7194811	2	1	250	1	0	0	0	0	0	0	0	1	14931	1074	38	1		1	SORCS2	4	7194811	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1356194	7194811	183959465	352	124280											
AFAP1	60312	broad.mit.edu	37	chr4	7776557	7776559	+	In_Frame_Del	DEL	CTC	CTC	-													gcctctttcctcttcagcagCtcctcctctttggtctgtag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:7776556_7776558GCTC>G	uc011bwk.1	-	14	2243_2245	c.1970_1972GAGC>C	c.(1969-1974)gagctg>gCtg	p.657_658EL>A	AFAP1_uc003gkg.1_In_Frame_Del_p.573_574EL>A|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	603						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						CTCTTCAGCAGCTCCTCCTCTTT	0.517													-	7776559	CTC	-	7776557	7	5	250	1	0	1	0	1	0	0	0	0	353	796	28	0	489	0	AFAP1	4	7776557	In_Frame_Del	DEL	CTC	TCGA-HF-7132-01A-11D-2053-08	581746	7776557	183377719	353	124281											
CPZ	8532	broad.mit.edu	37	chr4	8616156	8616156	+	Frame_Shift_Del	DEL	C	C	-													gagctgggctgtgtgaagttCccccccgaggaggccctgta							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:8616155_8616155TC>T	uc003glm.3	+	8	1607	c.1433_1433TC>T	c.(1432-1434)ttcfs	p.F478fs	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Frame_Shift_Del_p.F467fs|CPZ_uc003gln.3_Frame_Shift_Del_p.F341fs	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	478					Wnt receptor signaling pathway|proteolysis	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						TGTGTGAAGTTCCCCCCCGAG	0.572													-	8616156	C	-	8616156	7	5	250	1	0	1	0	1	0	0	0	0	3839	854	30	0	1468	0	CPZ	4	8616156	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	839599	8616156	182538120	354	124282											
GPR125	166647	broad.mit.edu	37	chr4	22425931	22425931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccacaggacacgttcatcAgccaacatgatgttacttgc	8	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:22425931A>G	uc003gqm.1	-	11	1753	c.1488T>C	c.(1486-1488)GCT>GCC	p.A496A	GPR125_uc010ieo.1_Silent_p.A370A|GPR125_uc003gqn.1_Silent_p.A270A|GPR125_uc003gqo.2_Silent_p.A496A	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	496	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CACGTTCATCAGCCAACATGA	0.488													G	22425931	A	G	22425931	2	3	250	1	0	0	0	0	0	0	0	1	6639	175	7	3		3	GPR125	4	22425931	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	13809775	22425931	168728345	355	124283											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815680	23815680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accggtcttgtctgcttcgtCgtcaaaaacagcttgactgg	10	11	3	1	rs143142906		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:23815680C>T	uc003gqs.2	-	8	1546	c.1426G>A	c.(1426-1428)GAC>AAC	p.D476N	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	476					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			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TCTGCTTCGTCGTCAAAAACA	0.473													T	23815680	C	T	23815680	3	4	250	1	0	0	0	0	1	0	0	0	12300	884	31	1	994	1	PPARGC1A	4	23815680	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1389749	23815680	167338596	356	124284											
ARAP2	116984	broad.mit.edu	37	chr4	36121278	36121278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattactactcacttgggtGtctttccacttggtaataaa	6	9	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:36121278G>A	uc003gsq.1	-	24	4295	c.3957C>T	c.(3955-3957)GAC>GAT	p.D1319D		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1319					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCACTTGGGTGTCTTTCCACT	0.294													A	36121278	G	A	36121278	2	1	250	1	0	0	0	0	0	0	0	1	839	1368	48	4		4	ARAP2	4	36121278	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	12305598	36121278	155032998	357	124285											
KLF3	51274	broad.mit.edu	37	chr4	38691351	38691351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctatttttattttttagtAcctgtaattgaatcatatga	4	4	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38691351A>G	uc003gth.3	+	4	878	c.546A>G	c.(544-546)GTA>GTG	p.V182V	KLF3_uc003gtg.2_Silent_p.V182V	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	182	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						ATTTTTTAGTACCTGTAATTG	0.328													G	38691351	A	G	38691351	2	3	250	1	0	0	0	0	0	0	0	1	8347	405	14	3		3	KLF3	4	38691351	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2570073	38691351	152462925	358	124286											
KLF3	51274	broad.mit.edu	37	chr4	38691476	38691477	+	Frame_Shift_Ins	INS	-	-	C													cccttaatgaactcagtgtcINSccccccgcaagcattgttgc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38691475_38691476T>TC	uc003gth.4	+	3	1002_1003	c.670_671T>TC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Ins_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	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						GAACTCAGTGTCCCCCCCGCAA	0.426													C	38691477	-	C	38691476	7	5	250	1	0	1	1	0	0	0	0	0	8347	855	30	0	681	0	KLF3	4	38691476	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	125	38691476	152462800	359	124287											
KLF3	51274	broad.mit.edu	37	chr4	38698754	38698754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacatggaagtttgctcGgtctgatgaactaacaagac	11	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38698754G>A	uc003gth.3	+	6	1240	c.908G>A	c.(907-909)CGG>CAG	p.R303Q		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	303	C2H2-type 2.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						AAGTTTGCTCGGTCTGATGAA	0.433													A	38698754	G	A	38698754	3	1	250	1	0	0	0	0	1	0	0	0	8347	1116	39	1	926	1	KLF3	4	38698754	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7278	38698754	152455522	360	124288											
FAM114A1	92689	broad.mit.edu	37	chr4	38933860	38933860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctattcatttcaggaagTatacatgtcgtccattgaaa	7	7	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:38933860T>C	uc003gtn.2	+	12	1504	c.1328T>C	c.(1327-1329)GTA>GCA	p.V443A	FAM114A1_uc011byh.1_Missense_Mutation_p.V236A|FAM114A1_uc010ifi.2_Missense_Mutation_p.V101A	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	443						cytoplasm				ovary(1)	1						TTTCAGGAAGTATACATGTCG	0.353													C	38933860	T	C	38933860	3	2	250	1	0	0	0	0	1	0	0	0	5403	1638	57	3	1366	3	FAM114A1	4	38933860	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	235106	38933860	152220416	361	124289											
KLB	152831	broad.mit.edu	37	chr4	39448946	39448947	+	Frame_Shift_Ins	INS	-	-	G													cgcctggctgtgattccctgINSgggggtgcgcaagctgctgc					rs34101901		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:39448945_39448946T>TG	uc003gua.3	+	3	2696_2697	c.2599_2600T>TG	c.(2599-2601)tggfs	p.W867fs	KLB_uc011byj.2_Frame_Shift_Ins_p.W858fs	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	867	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGTGATTCCCTGGGGGGTGCGC	0.649													G	39448947	-	G	39448946	7	5	250	1	0	1	1	0	0	0	0	0	8332	1357	47	0	2614	0	KLB	4	39448946	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	515086	39448946	151705330	362	124290											
APBB2	323	broad.mit.edu	37	chr4	40832535	40832535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttgctggtgtgtcacatCgaaatacatgacatttcaaa	7	8	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:40832535C>T	uc003gvl.2	-	13	2216	c.1586G>A	c.(1585-1587)CGA>CAA	p.R529Q	APBB2_uc010ifu.2_Missense_Mutation_p.R101Q|APBB2_uc003gvm.2_Missense_Mutation_p.R508Q|APBB2_uc003gvn.2_Missense_Mutation_p.R530Q|APBB2_uc003gvk.2_5'UTR	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	529	PID 1.				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			ovary(2)|large_intestine(1)	3						TGTGTCACATCGAAATACATG	0.428													T	40832535	C	T	40832535	3	4	250	1	0	0	0	0	1	0	0	0	761	884	31	1	714	1	APBB2	4	40832535	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1383589	40832535	150321741	363	124291											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984155	41984155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttcgttccacgtgtacGtgctcagaaacctctacgtc	7	15	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:41984155G>A	uc003gwk.2	+	1	443	c.346G>A	c.(346-348)GTG>ATG	p.V116M		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	116										skin(1)	1						CCACGTGTACGTGCTCAGAAA	0.562													A	41984155	G	A	41984155	3	1	250	1	0	0	0	0	1	0	0	0	4271	1145	40	1	348	1	DCAF4L1	4	41984155	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1151620	41984155	149170121	364	124292											
SLC30A9	10463	broad.mit.edu	37	chr4	42072645	42072645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaagcactcttagggcGgtccatccagccagaacaag	10	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:42072645G>A	uc003gwl.2	+	15	1501	c.1355G>A	c.(1354-1356)CGG>CAG	p.R452Q	SLC30A9_uc011byx.1_Missense_Mutation_p.R212Q	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	452					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)|ovary(1)	3						CTCTTAGGGCGGTCCATCCAG	0.478													A	42072645	G	A	42072645	3	1	250	1	0	0	0	0	1	0	0	0	14562	1116	39	1	1413	1	SLC30A9	4	42072645	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	88490	42072645	149081631	365	124293											
GABRG1	2565	broad.mit.edu	37	chr4	46125887	46125887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccctctactttgactcCgcagaagaaaaggggagaag	10	11	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:46125887C>T	uc003gxb.2	-	1	196	c.44G>A	c.(43-45)CGG>CAG	p.R15Q		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	15					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACTTTGACTCCGCAGAAGAAA	0.448													T	46125887	C	T	46125887	3	4	250	1	0	0	0	0	1	0	0	0	6171	652	23	1	1389	1	GABRG1	4	46125887	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4053242	46125887	145028389	366	124294											
FRYL	285527	broad.mit.edu	37	chr4	48572868	48572868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactaatgacaccagcatctGccagcagttcaaatattcgt	7	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:48572868G>A	uc003gyh.1	-	27	3577	c.2972C>T	c.(2971-2973)GCA>GTA	p.A991V	FRYL_uc003gyk.2_Missense_Mutation_p.A991V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ACCAGCATCTGCCAGCAGTTC	0.378													A	48572868	G	A	48572868	3	1	250	1	0	0	0	0	1	0	0	0	6064	1319	46	2	6221	2	FRYL	4	48572868	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2446981	48572868	142581408	367	124295											
FRYL	285527	broad.mit.edu	37	chr4	48588698	48588698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaatcaaccttggaatcGcagcaatacaagttctaaac	7	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:48588698G>A	uc003gyh.1	-	19	2293	c.1688C>T	c.(1687-1689)GCG>GTG	p.A563V	FRYL_uc003gyk.2_Missense_Mutation_p.A563V	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CCTTGGAATCGCAGCAATACA	0.343													A	48588698	G	A	48588698	3	1	250	1	0	0	0	0	1	0	0	0	6064	1087	38	1	7537	1	FRYL	4	48588698	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	15830	48588698	142565578	368	124296											
PDGFRA	5156	broad.mit.edu	37	chr4	55133541	55133541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggtccccgaggccacggTgaaagacagtggagattacg	15	10	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:55133541T>C	uc003han.3	+	6	1176	c.845T>C	c.(844-846)GTG>GCG	p.V282A	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.V176A|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	282	Ig-like C2-type 3.|Extracellular (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	GAGGCCACGGTGAAAGACAGT	0.483			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			C	55133541	T	C	55133541	3	2	250	1	0	0	0	0	1	0	0	0	11661	1696	59	3	863	3	PDGFRA	4	55133541	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	6544843	55133541	136020735	369	124297											
SRP72	6731	broad.mit.edu	37	chr4	57335866	57335866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcattgtaaagtgGtatgccttatccagaatgga	10	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:57335866G>A	uc003hbv.2	+	2	197	c.157G>A	c.(157-159)GTA>ATA	p.V53I	SRP72_uc010ihe.2_Missense_Mutation_p.V53I	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	53					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			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					TTGTAAAGTGGTATGCCTTAT	0.358													A	57335866	G	A	57335866	3	1	250	1	0	0	0	0	1	0	0	0	15156	1261	44	4	163	4	SRP72	4	57335866	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2202325	57335866	133818410	370	124298											
LPHN3	23284	broad.mit.edu	37	chr4	62758566	62758566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttccatcagcatcgtcccAaatcccagctctcgaagaga	6	16	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:62758566A>G	uc010ihh.2	+	7	1642	c.1469A>G	c.(1468-1470)CAA>CGA	p.Q490R	LPHN3_uc003hcq.3_Missense_Mutation_p.Q490R|LPHN3_uc003hcs.1_Missense_Mutation_p.Q319R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	490	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GCATCGTCCCAAATCCCAGCT	0.522													G	62758566	A	G	62758566	3	3	250	1	0	0	0	0	1	0	0	0	8917	130	5	3	1495	3	LPHN3	4	62758566	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	5422700	62758566	128395710	371	124299											
UGT2B10	7365	broad.mit.edu	37	chr4	69870627	69870627	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacttccagaaacaaaacaGacaacactttgtgatgataa	6	8	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:69870627G>A	uc011cao.1	-	9	1559	c.1423C>T	c.(1423-1425)CTG>TTG	p.L475L	UGT2B10_uc011can.1_Silent_p.L391L			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	512	Helical; (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						AAACAAAACAGACAACACTTT	0.423													A	69870627	G	A	69870627	2	1	250	1	0	0	0	0	0	0	0	1	16953	933	33	4		4	UGT2B10	4	69870627	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7112061	69870627	121283649	372	124300											
CXCL2	2920	broad.mit.edu	37	chr4	74964394	74964394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttctgcccattcttgaGtgtggctctgcagagagaag	12	9	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:74964394G>A	uc003hhm.3	-	3	392	c.232C>T	c.(232-234)CTC>TTC	p.L78F		NM_002089	NP_002080	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	78					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity				0	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			CCATTCTTGAGTGTGGCTCTG	0.527													A	74964394	G	A	74964394	3	1	250	1	0	0	0	0	1	0	0	0	4085	1029	36	4	99	4	CXCL2	4	74964394	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5093767	74964394	116189882	373	124301											
FRAS1	80144	broad.mit.edu	37	chr4	79420948	79420948	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagatgccattgcgattctGaacatcaaggtgatccgcag	10	11	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:79420948G>A	uc003hlb.2	+	61	9629	c.9189G>A	c.(9187-9189)CTG>CTA	p.L3063L	FRAS1_uc003hlc.1_Silent_p.L65L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3058	Calx-beta 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTGCGATTCTGAACATCAAGG	0.532													A	79420948	G	A	79420948	2	1	250	1	0	0	0	0	0	0	0	1	6042	1277	45	4		4	FRAS1	4	79420948	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4456554	79420948	111733328	374	124302											
HELQ	113510	broad.mit.edu	37	chr4	84368060	84368060	+	Frame_Shift_Del	DEL	T	T	-													gagttcaccaagctatgtccTttttcaatagtggcaatata							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:84368059_84368059CT>C	uc003hom.3	-	3	1500	c.1321_1321AG>G	c.(1321-1323)ggafs	p.G441fs	HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	441	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAGCTATGTCCTTTTTCAATA	0.373								Other identified genes with known or suspected DNA repair function					-	84368060	T	-	84368060	7	5	250	1	0	1	0	1	0	0	0	0	7047	1606	56	0	2045	0	HELQ	4	84368060	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	4947112	84368060	106786216	375	124303											
WDFY3	23001	broad.mit.edu	37	chr4	85758175	85758176	+	Frame_Shift_Ins	INS	-	-	A													caggcacatgtggaaggtcaINSaaaaacagatataaacattt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:85758174_85758175C>CA	uc003hpd.3	-	6	891_892	c.483_484G>TG	c.(481-486)tttgacfs	p.F161fs	WDFY3_uc003hpf.3_Frame_Shift_Ins_p.F161fs	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	161						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)		TGTGGAAGGTCAAAAAACAGAT	0.426													A	85758176	-	A	85758175	7	5	250	1	0	1	1	0	0	0	0	0	17267	127	5	0	10388	0	WDFY3	4	85758175	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1390115	85758175	105396101	376	124304											
SPARCL1	8404	broad.mit.edu	37	chr4	88414892	88414892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcacttgcactgtgccTggggccatcagtgccgccat	11	14	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:88414892T>C	uc010ikm.2	-	5	1632	c.1060A>G	c.(1060-1062)AGG>GGG	p.R354G	SPARCL1_uc011cdc.1_Missense_Mutation_p.R229G|SPARCL1_uc003hqs.3_Missense_Mutation_p.R354G|SPARCL1_uc011cdd.1_Missense_Mutation_p.R229G|SPARCL1_uc003hqt.2_Missense_Mutation_p.R354G	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	354					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCACTGTGCCTGGGGCCATCA	0.438													C	88414892	T	C	88414892	3	2	250	1	0	0	0	0	1	0	0	0	14995	1579	55	3	966	3	SPARCL1	4	88414892	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	2656717	88414892	102739384	377	124305											
ABCG2	9429	broad.mit.edu	37	chr4	89042930	89042930	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccagacacaccacggatAaactgagttccaacctaaat	5	14	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:89042930A>G	uc003hrg.2	-	6	1039	c.546T>C	c.(544-546)TTT>TTC	p.F182F	ABCG2_uc003hrh.2_Silent_p.F182F|ABCG2_uc003hrf.2_Silent_p.F52F	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	182	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		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)	CACCACGGATAAACTGAGTTC	0.308													G	89042930	A	G	89042930	2	3	250	1	0	0	0	0	0	0	0	1	69	359	13	3		3	ABCG2	4	89042930	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	628038	89042930	102111346	378	124306											
UNC5C	8633	broad.mit.edu	37	chr4	96124100	96124100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgaagttttcctcccCgaccaccaccacatcctggg	10	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:96124100C>A	uc003htp.1	-	12	2072	c.1918G>T	c.(1918-1920)GGG>TGG	p.G640W	UNC5C_uc010ilc.1_Missense_Mutation_p.G659W	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	640	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTTCCTCCCCGACCACCACC	0.597													A	96124100	C	A	96124100	3	1	250	1	0	0	0	0	1	0	0	0	16990	652	23	5	897	5	UNC5C	4	96124100	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7081170	96124100	95030176	379	124307											
H2AFZ	3015	broad.mit.edu	37	chr4	100869648	100869651	+	Frame_Shift_Del	DEL	CAAT	CAAT	-													cttctgttgtcctttcttccCaatcagagatttgtggatgt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:100869647_100869650CCAAT>C	uc003hvo.1	-	4	541_544	c.356_359ATTGG>G	c.(355-360)attgggfs	p.I119fs	DNAJB14_uc003hvl.3_5'Flank|DNAJB14_uc010ili.3_5'Flank|DNAJB14_uc003hvm.3_5'Flank|H2AFZ_uc003hvn.1_3'UTR|LOC256880_uc003hvp.1_5'Flank	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN	Homo sapiens H2A histone family, member Z (H2AFZ), mRNA.	119					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCCTTTCTTCCCAATCAGAGATTT	0.382													-	100869651	CAAT	-	100869648	7	5	250	1	0	1	0	1	0	0	0	0	6931	594	21	0	32	0	H2AFZ	4	100869648	Frame_Shift_Del	DEL	CAAT	TCGA-HF-7132-01A-11D-2053-08	4745548	100869648	90284628	380	124308											
TACR3	6870	broad.mit.edu	37	chr4	104640418	104640418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgaaattgaccaacgTgttgaaggcggccatggagg	15	6	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:104640418T>G	uc003hxe.1	-	1	558	c.415A>C	c.(415-417)ACG>CCG	p.T139P		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	139	Helical; Name=2; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTGACCAACGTGTTGAAGGCG	0.537													G	104640418	T	G	104640418	3	3	250	1	0	0	0	0	1	0	0	0	15504	1696	59	5	1002	5	TACR3	4	104640418	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	3770770	104640418	86513858	381	124309											
ELOVL6	79071	broad.mit.edu	37	chr4	110972636	110972636	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacactggtcatgctgcatcCagcagaagaccaggtagtta	11	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:110972636C>T	uc003hzz.2	-	5	782	c.656G>A	c.(655-657)TGG>TAG	p.W219*	ELOVL6_uc003iaa.2_Nonsense_Mutation_p.W219*	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN	elongation of very long chain fatty acids-like	219					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ATGCTGCATCCAGCAGAAGAC	0.498													T	110972636	C	T	110972636	4	4	250	1	0	0	0	0	0	1	0	0	5078	595	21	4	145	4	ELOVL6	4	110972636	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6332218	110972636	80181640	382	124310											
ANK2	287	broad.mit.edu	37	chr4	113970953	113970953	+	Frame_Shift_Del	DEL	A	A	-													aacggcagtagtcagaggagAaaaagacccaagaaggtaaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:113970952_113970952GA>G	uc003ibe.4	+	0	168	c.68_68GA>G	c.(67-69)agafs	p.R23fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Frame_Shift_Del_p.R23fs|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.R23fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	23					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R22R(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)		AGTCAGAGGAGAAAAAGACCC	0.413													-	113970953	A	-	113970953	7	5	250	1	0	1	0	1	0	0	0	0	621	243	9	0	96	0	ANK2	4	113970953	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	2998317	113970953	77183323	383	124311											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006514	118006515	+	Frame_Shift_Ins	INS	-	-	G													tgaattcctggctgagaacgINSggggggttcttggtgctctt					rs113650718	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:118006513_118006514C>CG	uc003ibv.4	-	0	223_224	c.36_37G>CG	c.(34-39)cccgttfs	p.P12fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	12					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						TGGCTGAGAACGGGGGGGTTCT	0.619													G	118006515	-	G	118006514	7	5	250	1	0	1	1	0	0	0	0	0	16449	1103	39	0	1077	0	TRAM1L1	4	118006514	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	4035561	118006514	73147762	384	124312											
PRDM5	11107	broad.mit.edu	37	chr4	121719471	121719471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaatccctttccacaaAgtttgcatttgtaaggtttg	9	8	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:121719471A>C	uc003idn.2	-	10	1389	c.1139T>G	c.(1138-1140)CTT>CGT	p.L380R	PRDM5_uc003ido.2_Missense_Mutation_p.L349R|PRDM5_uc010ine.2_Missense_Mutation_p.L349R	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	380	C2H2-type 8.				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)|pancreas(1)	2						CTTTCCACAAAGTTTGCATTT	0.328													C	121719471	A	C	121719471	3	2	250	1	0	0	0	0	1	0	0	0	12460	72	3	5	781	5	PRDM5	4	121719471	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3712957	121719471	69434805	385	124313											
TRPC3	7222	broad.mit.edu	37	chr4	122854138	122854138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcccctgacagcctggCgccggcccttctcccgcatc	11	21	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:122854138C>T	uc003ieg.2	-	2	349	c.275G>A	c.(274-276)CGC>CAC	p.R92H	TRPC3_uc010inr.2_Missense_Mutation_p.R19H|TRPC3_uc003ief.2_Missense_Mutation_p.R19H|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	7	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GACAGCCTGGCGCCGGCCCTT	0.602													T	122854138	C	T	122854138	3	4	250	1	0	0	0	0	1	0	0	0	16576	768	27	1	2534	1	TRPC3	4	122854138	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1134667	122854138	68300138	386	124314											
SPATA5	166378	broad.mit.edu	37	chr4	123850212	123850212	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtatacagcctggccTatggcaggatttcctggagg	14	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:123850212T>G	uc003iez.3	+	3	379	c.306T>G	c.(304-306)CCT>CCG	p.P102P	SPATA5_uc003iey.2_Silent_p.P101P	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	102					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						CAGCCTGGCCTATGGCAGGAT	0.453													G	123850212	T	G	123850212	2	3	250	1	0	0	0	0	0	0	0	1	15010	1509	53	5		5	SPATA5	4	123850212	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	996074	123850212	67304064	387	124315											
SPATA5	166378	broad.mit.edu	37	chr4	124177318	124177318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcatccttcaaaccgacGcatactcaggagcagaggta	8	12	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:124177318G>A	uc003iez.3	+	15	2561	c.2488G>A	c.(2488-2490)GCA>ACA	p.A830T		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	830					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						TCAAACCGACGCATACTCAGG	0.453													A	124177318	G	A	124177318	3	1	250	1	0	0	0	0	1	0	0	0	15010	1087	38	1	2546	1	SPATA5	4	124177318	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	327106	124177318	66976958	388	124316											
ANKRD50	57182	broad.mit.edu	37	chr4	125591851	125591851	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aataagtgcttcacatatcaAtctgtgcccttcaaaagctg	6	10	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:125591851A>T	uc003ifg.3	-	3	2847	c.2581T>A	c.(2581-2583)TTG>ATG	p.L861M	ANKRD50_uc011cgo.1_Missense_Mutation_p.L682M|ANKRD50_uc010inw.2_Missense_Mutation_p.L861M	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	861	ANK 12.									central_nervous_system(1)	1						TCACATATCAATCTGTGCCCT	0.418													T	125591851	A	T	125591851	3	4	250	1	0	0	0	0	1	0	0	0	677	98	4	5	1712	5	ANKRD50	4	125591851	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1414533	125591851	65562425	389	124317											
FAT4	79633	broad.mit.edu	37	chr4	126241559	126241559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaacatgagaattggTgaactcgtgtcctctgttac	10	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:126241559T>C	uc003ifj.3	+	1	3993	c.3993T>C	c.(3991-3993)GGT>GGC	p.G1331G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1331	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAGAATTGGTGAACTCGTGT	0.358													C	126241559	T	C	126241559	2	2	250	1	0	0	0	0	0	0	0	1	5692	1683	59	3		3	FAT4	4	126241559	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	649708	126241559	64912717	390	124318											
FAT4	79633	broad.mit.edu	37	chr4	126372561	126372561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagacaggacagatcaccGttactgcagaattagatcga	10	10	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:126372561G>A	uc003ifj.3	+	9	10390	c.10390G>A	c.(10390-10392)GTT>ATT	p.V3464I	FAT4_uc011cgp.1_Missense_Mutation_p.V1762I|FAT4_uc003ifi.1_Missense_Mutation_p.V942I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3464	Cadherin 33.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACAGATCACCGTTACTGCAGA	0.463													A	126372561	G	A	126372561	3	1	250	1	0	0	0	0	1	0	0	0	5692	1145	40	1	10424	1	FAT4	4	126372561	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	131002	126372561	64781715	391	124319											
MFSD8	256471	broad.mit.edu	37	chr4	128878707	128878707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcctaatagatctccatcGgctcttataatgctcttcag	5	11	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:128878707G>A	uc003ifp.2	-	3	266	c.103C>T	c.(103-105)CGA>TGA	p.R35*	MFSD8_uc011cgu.1_5'UTR|MFSD8_uc011cgv.1_Nonsense_Mutation_p.R35*|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_5'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	35	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						GATCTCCATCGGCTCTTATAA	0.303													A	128878707	G	A	128878707	4	1	250	1	0	0	0	0	0	1	0	0	9538	1124	39	1	1497	1	MFSD8	4	128878707	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2506146	128878707	62275569	392	124320											
LARP1B	55132	broad.mit.edu	37	chr4	129121762	129121762	+	Frame_Shift_Del	DEL	A	A	-													tcctcagagatcacttcaatAaaaaaatgtatgaggaattt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:129121762delA	uc003iga.2	+	17	2382	c.2251delA	c.(2251-2253)AAAfs	p.K751fs	LARP1B_uc003igc.2_Frame_Shift_Del_p.K170fs|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_RNA|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	751							RNA binding				0						TCACTTCAATAAAAAAATGTA	0.338													-	129121762	A	-	129121762	7	5	250	1	0	1	0	1	0	0	0	0	8629	363	13	0	2443	0	LARP1B	4	129121762	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	243055	129121762	62032514	393	124321											
SCLT1	132320	broad.mit.edu	37	chr4	129864270	129864271	+	Frame_Shift_Ins	INS	-	-	TC													tcactgacaagcccacagttINSctctctctcagactccaata							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:129864269_129864270T>TTC	uc003igp.2	-	16	2019_2020	c.1513_1514A>GAA	c.(1513-1515)aacfs	p.N505fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.N169fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.N115fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	505						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGCCCACAGTTCTCTCTCTCA	0.376													TC	129864271	-	TC	129864270	7	5	250	1	0	1	1	0	0	0	0	0	13906	1783	62	0	573	0	SCLT1	4	129864270	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	742508	129864270	61290006	394	124322											
PCDH10	57575	broad.mit.edu	37	chr4	134071649	134071650	+	Frame_Shift_Ins	INS	-	-	C													tgctggacattaatgacaacINScccccctctttcccggagcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:134071648_134071649A>AC	uc003iha.3	+	0	1179_1180	c.353_354A>AC	c.(352-354)aacfs	p.N118fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.N118fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(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)		ATTAATGACAACCCCCCCTCTT	0.604													C	134071650	-	C	134071649	7	5	250	1	0	1	1	0	0	0	0	0	11507	506	18	0	356	0	PCDH10	4	134071649	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	4207379	134071649	57082627	395	124323											
RNF150	57484	broad.mit.edu	37	chr4	141888894	141888894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacaaacacaaccgaagtGcggctcacatatttctgcaa	8	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:141888894G>A	uc003iio.1	-	2	1272	c.618C>T	c.(616-618)CGC>CGT	p.R206R	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Silent_p.R206R	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	206	Extracellular (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					CAACCGAAGTGCGGCTCACAT	0.458													A	141888894	G	A	141888894	2	1	250	1	0	0	0	0	0	0	0	1	13451	1306	46	2		2	RNF150	4	141888894	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7817245	141888894	49265382	396	124324											
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia 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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	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								A	153249385	G	A	153249385	3	1	250	1	0	0	0	0	1	0	0	0	5769	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	11360491	153249385	37904891	397	124325											
FHDC1	85462	broad.mit.edu	37	chr4	153896567	153896568	+	Frame_Shift_Del	DEL	TG	TG	-													agcccgatggagctagagtcTgtggggcataggggcccgca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:153896566_153896567CTG>C	uc003inf.2	+	10	2198_2199	c.2123_2124CTG>C	c.(2122-2124)tctfs	p.S708fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	708					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)					GAGCTAGAGTCTGTGGGGCATA	0.644													-	153896568	TG	-	153896567	7	5	250	1	0	1	0	1	0	0	0	0	5876	1567	55	0	2166	0	FHDC1	4	153896567	Frame_Shift_Del	DEL	TG	TCGA-HF-7132-01A-11D-2053-08	647182	153896567	37257709	398	124326											
SFRP2	6423	broad.mit.edu	37	chr4	154709813	154709813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcaggttgggcagccGcatgttctggtattcgatgc	14	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:154709813G>A	uc003inv.1	-	1	416	c.175C>T	c.(175-177)CGG>TGG	p.R59W		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	59	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TTGGGCAGCCGCATGTTCTGG	0.617													A	154709813	G	A	154709813	3	1	250	1	0	0	0	0	1	0	0	0	14162	1086	38	1	724	1	SFRP2	4	154709813	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	813246	154709813	36444463	399	124327											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632139	156632139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaaaccccagtcctcGctggtgattcccacatcgct	7	18	0	1	rs148529562	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:156632139G>A	uc003iov.2	+	7	1358	c.822G>A	c.(820-822)TCG>TCA	p.S274S	GUCY1A3_uc003iou.2_Silent_p.S274S|GUCY1A3_uc010iqc.2_Silent_p.S274S|GUCY1A3_uc003iow.2_Silent_p.S274S|GUCY1A3_uc010iqd.2_Silent_p.S273S|GUCY1A3_uc003iox.2_Silent_p.S274S|GUCY1A3_uc003ioz.2_Silent_p.S39S|GUCY1A3_uc003ioy.2_Silent_p.S274S|GUCY1A3_uc010iqe.2_Silent_p.S39S|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.S274S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	274					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(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCCAGTCCTCGCTGGTGATTC	0.458													A	156632139	G	A	156632139	2	1	250	1	0	0	0	0	0	0	0	1	6894	1074	38	1		1	GUCY1A3	4	156632139	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1922326	156632139	34522137	400	124328											
GUCY1B3	2983	broad.mit.edu	37	chr4	156723545	156723545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatgagctgcggcacaaGcgtccagtgcctgccaaaag	12	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:156723545G>A	uc003ipc.2	+	10	1394	c.1227G>A	c.(1225-1227)AAG>AAA	p.K409K	GUCY1B3_uc011cio.1_Silent_p.K431K|GUCY1B3_uc011cip.1_Silent_p.K389K|GUCY1B3_uc003ipd.2_Silent_p.K337K|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Silent_p.K380K|GUCY1B3_uc011ciq.1_Silent_p.K337K	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	409					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TGCGGCACAAGCGTCCAGTGC	0.488													A	156723545	G	A	156723545	2	1	250	1	0	0	0	0	0	0	0	1	6895	962	34	2		2	GUCY1B3	4	156723545	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	91406	156723545	34430731	401	124329											
GUCY1B3	2983	broad.mit.edu	37	chr4	156725866	156725866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaaccacaggagaaaAgggaaaaataaatgtgtctg	10	5	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:156725866A>G	uc003ipc.2	+	12	1843	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R	GUCY1B3_uc011cio.1_Missense_Mutation_p.K581R|GUCY1B3_uc011cip.1_Missense_Mutation_p.K539R|GUCY1B3_uc003ipd.2_Missense_Mutation_p.K487R|GUCY1B3_uc010iqf.2_Missense_Mutation_p.K526R|GUCY1B3_uc010iqg.2_Missense_Mutation_p.K530R|GUCY1B3_uc011ciq.1_Missense_Mutation_p.K487R	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	559					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAGGAGAAAAGGGAAAAATA	0.398													G	156725866	A	G	156725866	3	3	250	1	0	0	0	0	1	0	0	0	6895	72	3	3	1722	3	GUCY1B3	4	156725866	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2321	156725866	34428410	402	124330											
GRIA2	2891	broad.mit.edu	37	chr4	158255214	158255214	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttacccttactgagctccCttctggaaatgacacctctg	7	13	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:158255214C>G	uc003ipm.3	+	9	1667	c.1208C>G	c.(1207-1209)CCT>CGT	p.P403R	GRIA2_uc011cit.1_Missense_Mutation_p.P356R|GRIA2_uc003ipl.3_Missense_Mutation_p.P403R|GRIA2_uc003ipk.3_Missense_Mutation_p.P356R|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	403	Extracellular (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACTGAGCTCCCTTCTGGAAAT	0.393													G	158255214	C	G	158255214	3	3	250	1	0	0	0	0	1	0	0	0	6768	681	24	5	1242	5	GRIA2	4	158255214	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1529348	158255214	32899062	403	124331											
FAM198B	51313	broad.mit.edu	37	chr4	159091970	159091970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccccggctcgcactccCggaccccgcaccaacctcca	9	23	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:159091970C>T	uc003ipp.3	-	2	1010	c.558G>A	c.(556-558)CCG>CCA	p.P186P	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Silent_p.P186P|FAM198B_uc003ipr.3_Silent_p.P186P|FAM198B_uc003ips.2_Silent_p.P186P|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	186	Extracellular (Potential).					Golgi membrane|integral to membrane					0						CTCGCACTCCCGGACCCCGCA	0.622											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	159091970	C	T	159091970	2	4	250	1	0	0	0	0	0	0	0	1	5529	639	23	1		1	FAM198B	4	159091970	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	836756	159091970	32062306	404	124332											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277143	160277143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcccttcagagatcgcGgatggtcgcacgatcctccg	13	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:160277143G>A	uc003iqg.3	+	23	4617	c.4307G>A	c.(4306-4308)CGG>CAG	p.R1436Q		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1436					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			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGAGATCGCGGATGGTCGCA	0.587													A	160277143	G	A	160277143	3	1	250	1	0	0	0	0	1	0	0	0	13044	1116	39	1	4397	1	RAPGEF2	4	160277143	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1185173	160277143	30877133	405	124333											
DDX60L	91351	broad.mit.edu	37	chr4	169393873	169393873	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcttcttgggctacaGggtagaagagtagagctgga	15	6	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:169393873G>T	uc003irq.3	-	2	199	c.-22C>A	c.(-24--20)CCCTG>CCATG		DDX60L_uc003irr.1_Translation_Start_Site|DDX60L_uc003irt.1_Translation_Start_Site	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTGGGCTACAGGGTAGAAGAG	0.343													T	169393873	G	T	169393873	1	4	250	1	0	0	0	0	0	0	0	0	4379	1015	35	5		5	DDX60L	4	169393873	Translation_Start_Site	SNP	G	TCGA-HF-7132-01A-11D-2053-08	9116730	169393873	21760403	406	124334											
NEIL3	55247	broad.mit.edu	37	chr4	178256979	178256979	+	Splice_Site	DEL	A	A	-													ctcatcagtagaactcaggtAaaaaaaattaaataaaagta					rs35737622	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:178256978_178256978TA>T	uc003iut.2	+	3	530	c.413_splice	c.e3+2	p.R138_splice	NEIL3_uc010irs.3_Splice_Site_p.R41_splice	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	138					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|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)		AGAACTCAGGTAAAAAAAATT	0.333								Base excision repair (BER), DNA glycosylases					-	178256979	A	-	178256979	8	5	250	1	0	1	0	1	0	0	1	0	10320	377	13	0		0	NEIL3	4	178256979	Splice_Site	DEL	A	TCGA-HF-7132-01A-11D-2053-08	8863106	178256979	12897297	407	124335											
ODZ3	55714	broad.mit.edu	37	chr4	183720983	183720983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcatcaaggtggcggccGtgctcaacaacgccttctac	10	14	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:183720983G>A	uc003ivd.1	+	27	7616	c.7579G>A	c.(7579-7581)GTG>ATG	p.V2527M		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2527	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGTGGCGGCCGTGCTCAACAA	0.622													A	183720983	G	A	183720983	3	1	250	1	0	0	0	0	1	0	0	0	10836	1145	40	1	7685	1	ODZ3	4	183720983	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5464004	183720983	7433293	408	124336											
C4orf41	60684	broad.mit.edu	37	chr4	184606268	184606268	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagatgaccagaagtctcgGatagaaaagaacctcataaa	8	7	2	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr4:184606268G>A	uc003ivx.2	+	16	1775	c.1599G>A	c.(1597-1599)CGG>CGA	p.R533R	C4orf41_uc003ivw.2_Silent_p.R533R|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.R139R	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	533											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		AGAAGTCTCGGATAGAAAAGA	0.303													A	184606268	G	A	184606268	2	1	250	1	0	0	0	0	0	0	0	1	2270	1161	41	4		4	C4orf41	4	184606268	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	885285	184606268	6548008	409	124337											
SLC6A18	348932	broad.mit.edu	37	chr5	1235779	1235779	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgagactacagggaaggTgagagctggcagggcctgat	16	7	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:1235779T>C	uc003jby.1	+	4	744	c.621_splice	c.e4+2	p.K207_splice		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18						cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	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)			ACAGGGAAGGTGAGAGCTGGC	0.557													C	1235779	T	C	1235779	5	2	250	1	0	0	0	0	0	0	1	0	14681	1710	59	3	637	3	SLC6A18	5	1235779	Splice_Site	SNP	T	TCGA-HF-7132-01A-11D-2053-08		1235779	179679481	410	124338											
IRX1	79192	broad.mit.edu	37	chr5	3599703	3599703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacaccgagggcgaccCggagaaggccgaggacgacg	17	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:3599703C>T	uc003jde.2	+	2	693	c.641C>T	c.(640-642)CCG>CTG	p.P214L		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GAGGGCGACCCGGAGAAGGCC	0.627													T	3599703	C	T	3599703	3	4	250	1	0	0	0	0	1	0	0	0	7843	652	23	1	647	1	IRX1	5	3599703	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2363924	3599703	177315557	411	124339											
NSUN2	54888	broad.mit.edu	37	chr5	6604300	6604300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgagttttctaaaaaaGggattttcctgggtcaacag	10	7	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:6604300G>A	uc003jdu.2	-	17	1973	c.1908C>T	c.(1906-1908)CCC>CCT	p.P636P	NSUN2_uc003jds.2_Silent_p.P82P|NSUN2_uc003jdt.2_Silent_p.P400P|NSUN2_uc011cmk.1_Silent_p.P601P|NSUN2_uc003jdv.2_Silent_p.P400P	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	636						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						TTCTAAAAAAGGGATTTTCCT	0.358													A	6604300	G	A	6604300	2	1	250	1	0	0	0	0	0	0	0	1	10678	987	35	4		4	NSUN2	5	6604300	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3004597	6604300	174310960	412	124340											
DNAH5	1767	broad.mit.edu	37	chr5	13864659	13864659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccatgtattccagcagCgggcaacactcgctgaaatc	10	13	0	1	rs141196881	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:13864659C>T	uc003jfd.2	-	28	4485	c.4443G>A	c.(4441-4443)CCG>CCA	p.P1481P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1481	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ATTCCAGCAGCGGGCAACACT	0.522									Kartagener_syndrome				T	13864659	C	T	13864659	2	4	250	1	0	0	0	0	0	0	0	1	4604	755	27	1		1	DNAH5	5	13864659	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7260359	13864659	167050601	413	124341											
DNAH5	1767	broad.mit.edu	37	chr5	13900481	13900481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgcctggagccttcAccaataatgaagcctcaaga	8	14	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:13900481A>G	uc003jfd.2	-	15	2135	c.2093T>C	c.(2092-2094)GTG>GCG	p.V698A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	698	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGGAGCCTTCACCAATAATGA	0.408									Kartagener_syndrome				G	13900481	A	G	13900481	3	3	250	1	0	0	0	0	1	0	0	0	4604	159	6	3	12041	3	DNAH5	5	13900481	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	35822	13900481	167014779	414	124342											
MYO10	4651	broad.mit.edu	37	chr5	16694606	16694607	+	Frame_Shift_Ins	INS	-	-	C													cctggacagcgtggaggagcINScccccccttttttgtggagc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:16694605_16694606G>GC	uc003jft.4	-	26	4142_4143	c.3674_3675C>GC	c.(3673-3675)ggcfs	p.G1225fs	MYO10_uc011cnc.2_Frame_Shift_Ins_p.G104fs|MYO10_uc011cnd.2_Frame_Shift_Ins_p.G582fs|MYO10_uc011cne.2_Frame_Shift_Ins_p.G582fs|MYO10_uc010itx.3_Frame_Shift_Ins_p.G848fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1225	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.S1226fs*25(1)		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						GCGTGGAGGAGCCCCCCCCTTT	0.564													C	16694607	-	C	16694606	7	5	250	1	0	1	1	0	0	0	0	0	10062	739	26	0	2562	0	MYO10	5	16694606	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	2794125	16694606	164220654	415	124343											
CDH10	1008	broad.mit.edu	37	chr5	24509865	24509865	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggtaataaaaacggggatCtacatgggtgttttctgctt	11	5	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:24509865C>T	uc003jgr.1	-	7	1398	c.1066G>A	c.(1066-1068)GAT>AAT	p.D356N	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	356	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AAACGGGGATCTACATGGGTG	0.378										HNSCC(23;0.051)			T	24509865	C	T	24509865	3	4	250	1	0	0	0	0	1	0	0	0	3096	913	32	4	1324	4	CDH10	5	24509865	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7815259	24509865	156405395	416	124344											
C5orf22	55322	broad.mit.edu	37	chr5	31538590	31538590	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtgactcttcttcagaaGgactggaaaaggacacagca	10	9	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:31538590G>T	uc003jhj.3	+	4	728	c.601G>T	c.(601-603)GGA>TGA	p.G201*	C5orf22_uc011cnw.1_Splice_Site|C5orf22_uc003jhk.3_Splice_Site	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	201										ovary(2)	2						TTCTTCAGAAGGACTGGAAAA	0.453													T	31538590	G	T	31538590	4	4	250	1	0	0	0	0	0	1	0	0	2285	1001	35	5	615	5	C5orf22	5	31538590	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7028725	31538590	149376670	417	124345											
ADAMTS12	81792	broad.mit.edu	37	chr5	33546197	33546197	+	Frame_Shift_Del	DEL	C	C	-													ccagtggcccagtgacagcaCaggtgctcattgcaagacat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:33546196_33546196AC>A	uc003jia.1	-	21	4577	c.4414_4414GT>T	c.(4414-4416)tgcfs	p.C1472fs	ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.C1387fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1472	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1472F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGTGACAGCACAGGTGCTCA	0.443										HNSCC(64;0.19)			-	33546197	C	-	33546197	7	5	250	1	0	1	0	1	0	0	0	0	257	465	17	0	383	0	ADAMTS12	5	33546197	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	2007607	33546197	147369063	418	124346											
AMACR	23600	broad.mit.edu	37	chr5	34008070	34008070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccaggaccatagcacagaAcgggcccggggccaggccgg	16	14	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:34008070A>G	uc003jig.2	-	1	137	c.55T>C	c.(55-57)TTC>CTC	p.F19L	AMACR_uc003jih.2_Missense_Mutation_p.F19L|AMACR_uc003jii.2_Missense_Mutation_p.F19L|AMACR_uc003jij.2_Missense_Mutation_p.F19L|AMACR_uc003jil.1_Missense_Mutation_p.F19L|AMACR_uc003jik.1_Missense_Mutation_p.F19L	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	19					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0						ATAGCACAGAACGGGCCCGGG	0.701													G	34008070	A	G	34008070	3	3	250	1	0	0	0	0	1	0	0	0	562	43	2	3	1443	3	AMACR	5	34008070	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	461873	34008070	146907190	419	124347											
BRIX1	55299	broad.mit.edu	37	chr5	34923325	34923325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggataataggatatggTttcggaactttcaggtaagc	11	4	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:34923325T>C	uc003jja.2	+	8	673	c.649T>C	c.(649-651)TTT>CTT	p.F217L	BRIX1_uc011col.1_3'UTR	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	217	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						TAGGATATGGTTTCGGAACTT	0.264													C	34923325	T	C	34923325	3	2	250	1	0	0	0	0	1	0	0	0	1515	1725	60	3	679	3	BRIX1	5	34923325	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	915255	34923325	145991935	420	124348											
DNAJC21	134218	broad.mit.edu	37	chr5	34954736	34954736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccatctaaaggccacaGgtcatgcaagagcaccttca	8	12	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:34954736G>T	uc003jjc.2	+	12	1740	c.1513G>T	c.(1513-1515)GGT>TGT	p.G505C	DNAJC21_uc003jjb.2_Missense_Mutation_p.G550C	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	505	C2H2-type 2.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAAGGCCACAGGTCATGCAAG	0.403													T	34954736	G	T	34954736	3	4	250	1	0	0	0	0	1	0	0	0	4640	1000	35	5	1698	5	DNAJC21	5	34954736	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	31411	34954736	145960524	421	124349											
SPEF2	79925	broad.mit.edu	37	chr5	35667345	35667345	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactaaagtggcagactatCgaatgttgacaaataagtaa	8	7	0	2	rs147855827		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:35667345C>T	uc003jjo.2	+	9	1450	c.1339C>T	c.(1339-1341)CGA>TGA	p.R447*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R447*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.R447*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	447					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGACTATCGAATGTTGAC	0.328													T	35667345	C	T	35667345	4	4	250	1	0	0	0	0	0	1	0	0	15034	876	31	1	1373	1	SPEF2	5	35667345	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	712609	35667345	145247915	422	124350											
C5orf33	133686	broad.mit.edu	37	chr5	36225645	36225645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatacgttctttcttaccGttctggatcagtgtttaccc	7	10	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:36225645G>A	uc003jkf.3	-	4	559	c.559C>T	c.(559-561)CGG>TGG	p.R187W	C5orf33_uc010iux.2_Missense_Mutation_p.R24W|C5orf33_uc003jkg.3_Missense_Mutation_p.R24W|C5orf33_uc011cov.1_Missense_Mutation_p.R24W	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	hypothetical protein LOC133686 isoform 1	187							NAD+ kinase activity				0	all_lung(31;5.63e-05)		Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTCTTACCGTTCTGGATCA	0.368													A	36225645	G	A	36225645	3	1	250	1	0	0	0	0	1	0	0	0	2292	1159	40	1	805	1	C5orf33	5	36225645	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	558300	36225645	144689615	423	124351											
EGFLAM	133584	broad.mit.edu	37	chr5	38407104	38407104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagagaaaggggaagaatGgtgtggccataatgtcaagg	15	4	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:38407104G>A	uc003jlc.1	+	8	1327	c.1003G>A	c.(1003-1005)GGT>AGT	p.G335S	EGFLAM_uc003jlb.1_Missense_Mutation_p.G335S|EGFLAM_uc003jle.1_Missense_Mutation_p.G101S|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	335						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GGGGAAGAATGGTGTGGCCAT	0.547													A	38407104	G	A	38407104	3	1	250	1	0	0	0	0	1	0	0	0	4966	1348	47	4	1047	4	EGFLAM	5	38407104	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2181459	38407104	142508156	424	124352											
DAB2	1601	broad.mit.edu	37	chr5	39394337	39394338	+	Frame_Shift_Ins	INS	-	-	T													ggatttctccatacctttctINSttttttccttctttgagggt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:39394336_39394337C>CT	uc003jlx.3	-	1	617_618	c.86_87G>AG	c.(85-87)aagfs	p.K29fs	DAB2_uc003jlw.3_Frame_Shift_Ins_p.K29fs	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	29					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	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)			CCATACCTTTCTTTTTTTCCTT	0.475													T	39394338	-	T	39394337	7	5	250	1	0	1	1	0	0	0	0	0	4218	1609	56	0	2278	0	DAB2	5	39394337	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	987233	39394337	141520923	425	124353											
TTC33	23548	broad.mit.edu	37	chr5	40716358	40716358	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaccattgttttatttgcTgaaactgtcttctctttctc	4	9	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:40716358T>G	uc003jma.2	-	5	826	c.678A>C	c.(676-678)TCA>TCC	p.S226S	TTC33_uc011cpm.1_Silent_p.S118S|TTC33_uc010ivg.2_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	226							binding			ovary(1)	1						TTTTATTTGCTGAAACTGTCT	0.403													G	40716358	T	G	40716358	2	3	250	1	0	0	0	0	0	0	0	1	16699	1567	55	5		5	TTC33	5	40716358	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1322021	40716358	140198902	426	124354											
ISL1	3670	broad.mit.edu	37	chr5	50685554	50685554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaagaccacccgcgtgCggactgtgctgaacgagaag	15	11	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:50685554C>T	uc003jor.2	+	4	1101	c.553C>T	c.(553-555)CGG>TGG	p.R185W		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	185	Homeobox.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				CACCCGCGTGCGGACTGTGCT	0.672													T	50685554	C	T	50685554	3	4	250	1	0	0	0	0	1	0	0	0	7856	759	27	1	567	1	ISL1	5	50685554	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9969196	50685554	130229706	427	124355											
MOCS2	4338	broad.mit.edu	37	chr5	52402940	52402940	+	Frame_Shift_Del	DEL	G	G	-													aagcactatcctccactaatGggggggataacggcaatttc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:52402939_52402939TG>T	uc003joz.3	-	2	480	c.66_66CA>A	c.(64-66)ccafs	p.P22fs	MOCS2_uc011cqf.2_Frame_Shift_Del_p.I85fs|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	p.P21P(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATA	0.428													-	52402940	G	-	52402940	7	5	250	1	0	1	0	1	0	0	0	0	9691	1348	47	0	521	0	MOCS2	5	52402940	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1717386	52402940	128512320	428	124356											
GZMA	3001	broad.mit.edu	37	chr5	54403958	54403958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcttccaacagctgatGgaaaaagcaaaaattaacaa	5	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:54403958G>A	uc003jpm.2	+	4	400	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	121	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			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AACAGCTGATGGAAAAAGCAA	0.353													A	54403958	G	A	54403958	2	1	250	1	0	0	0	0	0	0	0	1	6915	1348	47	4		4	GZMA	5	54403958	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2001018	54403958	126511302	429	124357											
GPBP1	65056	broad.mit.edu	37	chr5	56526980	56526980	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacatggaagaaatggtacAgaaaacataaatcatcgagg	9	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:56526980A>G	uc003jrh.3	+	5	1517	c.243A>G	c.(241-243)ACA>ACG	p.T81T	GPBP1_uc010iwg.2_Silent_p.T81T|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.T88T|GPBP1_uc003jrk.3_Silent_p.T88T|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GAAATGGTACAGAAAACATAA	0.363													G	56526980	A	G	56526980	2	3	250	1	0	0	0	0	0	0	0	1	6595	175	7	3		3	GPBP1	5	56526980	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2123022	56526980	124388280	430	124358											
CENPK	64105	broad.mit.edu	37	chr5	64824337	64824337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttctagaaactcgcccAaggtactcaagagtttctcc	8	12	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:64824337A>G	uc003jts.2	-	9	751	c.539T>C	c.(538-540)TTG>TCG	p.L180S	CENPK_uc003jtt.2_Missense_Mutation_p.L150S|CENPK_uc003jtu.2_Missense_Mutation_p.L180S	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	180					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AAACTCGCCCAAGGTACTCAA	0.269													G	64824337	A	G	64824337	3	3	250	1	0	0	0	0	1	0	0	0	3235	131	5	3	282	3	CENPK	5	64824337	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	8297357	64824337	116090923	431	124359											
CCNB1	891	broad.mit.edu	37	chr5	68470089	68470089	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcaggaagagcaagcAgtcagaccaaaatacctact	8	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:68470089A>G	uc003jvm.2	+	5	735	c.558A>G	c.(556-558)GCA>GCG	p.A186A	CCNB1_uc011crd.1_Silent_p.A186A|CCNB1_uc010ixb.2_Silent_p.A186A	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	186					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					0		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)		AAGAGCAAGCAGTCAGACCAA	0.413													G	68470089	A	G	68470089	2	3	250	1	0	0	0	0	0	0	0	1	2911	175	7	3		3	CCNB1	5	68470089	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3645752	68470089	112445171	432	124360											
CMYA5	202333	broad.mit.edu	37	chr5	79025033	79025033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccatcattacgccggaaaGgcaacagaaaaagaaattct	7	10	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79025033G>T	uc003kgc.2	+	2	517	c.445G>T	c.(445-447)GGC>TGC	p.G149C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	149						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		ACGCCGGAAAGGCAACAGAAA	0.403													T	79025033	G	T	79025033	3	4	250	1	0	0	0	0	1	0	0	0	3590	1000	35	5	451	5	CMYA5	5	79025033	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	10554944	79025033	101890227	433	124361											
CMYA5	202333	broad.mit.edu	37	chr5	79031458	79031458	+	Frame_Shift_Del	DEL	A	A	-													gtgtctagggaagattatggAaaaaaagaaatctcaggcga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79031457_79031457GA>G	uc003kgc.3	+	1	6941	c.6869_6869GA>G	c.(6868-6870)ggafs	p.G2290fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2290						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)		GAAGATTATGGAAAAAAAGAA	0.343													-	79031458	A	-	79031458	7	5	250	1	0	1	0	1	0	0	0	0	3590	233	9	0	6876	0	CMYA5	5	79031458	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	6425	79031458	101883802	434	124362											
THBS4	7060	broad.mit.edu	37	chr5	79368151	79368151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcccaatcgtgaccaaCgggacaaggatggtgatggt	12	8	0	2	rs148589675		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79368151C>T	uc003kgh.2	+	15	2094	c.1771C>T	c.(1771-1773)CGG>TGG	p.R591W	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	591	TSP type-3 5.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCGTGACCAACGGGACAAGGA	0.468													T	79368151	C	T	79368151	3	4	250	1	0	0	0	0	1	0	0	0	15853	527	19	1	1825	1	THBS4	5	79368151	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	336693	79368151	101547109	435	124363											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854681	79854681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctataagtgctttgccGtcttctgaagttggaggggt	12	7	2	1	rs141172423		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:79854681G>A	uc010jam.2	-	4	1508	c.1158C>T	c.(1156-1158)GAC>GAT	p.D386D	ANKRD34B_uc003kgw.2_Silent_p.D386D|ANKRD34B_uc010jan.2_Silent_p.D386D	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	386						cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GTGCTTTGCCGTCTTCTGAAG	0.463													A	79854681	G	A	79854681	2	1	250	1	0	0	0	0	0	0	0	1	663	1136	40	1		1	ANKRD34B	5	79854681	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	486530	79854681	101060579	436	124364											
LYSMD3	116068	broad.mit.edu	37	chr5	89815177	89815177	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaatgacgtgaagtctgtCttccttttggaggacaaagt	11	6	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:89815177C>T	uc003kjr.2	-	3	528	c.380G>A	c.(379-381)AGA>AAA	p.R127K	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Silent_p.K107K	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	127	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TGAAGTCTGTCTTCCTTTTGG	0.393													T	89815177	C	T	89815177	3	4	250	1	0	0	0	0	1	0	0	0	9126	913	32	4	544	4	LYSMD3	5	89815177	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9960496	89815177	91100083	437	124365											
ELL2	22936	broad.mit.edu	37	chr5	95242268	95242268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcttgtctttttgatTgacaccatctttctggagtc	9	8	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:95242268T>C	uc003klr.3	-	5	1050	c.700A>G	c.(700-702)AAT>GAT	p.N234D		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	234					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		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)		TCTTTTTGATTGACACCATCT	0.473													C	95242268	T	C	95242268	3	2	250	1	0	0	0	0	1	0	0	0	5063	1812	63	3	1254	3	ELL2	5	95242268	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	5427091	95242268	85672992	438	124366											
FAM174A	345757	broad.mit.edu	37	chr5	99871497	99871497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaatggcagcaaccctgTggccgggcttgagacggacg	16	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:99871497T>C	uc003knj.1	+	1	383	c.263T>C	c.(262-264)GTG>GCG	p.V88A	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	88	Extracellular (Potential).					integral to membrane					0						AGCAACCCTGTGGCCGGGCTT	0.726													C	99871497	T	C	99871497	3	2	250	1	0	0	0	0	1	0	0	0	5495	1696	59	3	265	3	FAM174A	5	99871497	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4629229	99871497	81043763	439	124367											
FER	2241	broad.mit.edu	37	chr5	108290522	108290522	+	Frame_Shift_Del	DEL	A	A	-													atagaagctcaagaactgttAaaaaaacaaggagacttttt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:108290521_108290521TA>T	uc003kop.1	+	11	1805	c.1421_1421TA>T	c.(1420-1422)ttafs	p.L474fs	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Frame_Shift_Del_p.L299fs	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	474	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)		CAAGAACTGTTAAAAAAACAA	0.403													-	108290522	A	-	108290522	7	5	250	1	0	1	0	1	0	0	0	0	5813	359	13	0	1460	0	FER	5	108290522	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	8419025	108290522	72624738	440	124368											
PGGT1B	5229	broad.mit.edu	37	chr5	114573651	114573651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataactaagcatgagaggCcagtgtaggtcattgcaatg	12	6	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:114573651C>T	uc003kqw.3	-	4	404	c.383G>A	c.(382-384)GGC>GAC	p.G128D	PGGT1B_uc003kqx.3_Missense_Mutation_p.G5D|PGGT1B_uc010jch.2_Missense_Mutation_p.G128D	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	128					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	GCATGAGAGGCCAGTGTAGGT	0.413													T	114573651	C	T	114573651	3	4	250	1	0	0	0	0	1	0	0	0	11789	739	26	2	774	2	PGGT1B	5	114573651	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6283129	114573651	66341609	441	124369											
AP3S1	1176	broad.mit.edu	37	chr5	115230848	115230848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggatttgattttccatgTagacaaggtactatttgtat	9	5	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:115230848T>C	uc003krl.2	+	4	454	c.338T>C	c.(337-339)GTA>GCA	p.V113A	AP3S1_uc003krk.2_Missense_Mutation_p.V91A|AP3S1_uc003krm.2_Missense_Mutation_p.V113A	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	113					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		ATTTTCCATGTAGACAAGGTA	0.269													C	115230848	T	C	115230848	3	2	250	1	0	0	0	0	1	0	0	0	749	1638	57	3	352	3	AP3S1	5	115230848	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	657197	115230848	65684412	442	124370											
SEMA6A	57556	broad.mit.edu	37	chr5	115782940	115782940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctggtagccctgctgcGtgatgggcaggaccaccacg	14	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:115782940G>A	uc010jck.2	-	19	3171	c.2462C>T	c.(2461-2463)ACG>ATG	p.T821M	SEMA6A_uc003krx.3_Missense_Mutation_p.T838M|SEMA6A_uc011cwe.1_Missense_Mutation_p.T200M|SEMA6A_uc003krv.3_Missense_Mutation_p.T248M|SEMA6A_uc003krw.3_Missense_Mutation_p.T298M|SEMA6A_uc010jcj.2_Missense_Mutation_p.T365M	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	821	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		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)		GCCCTGCTGCGTGATGGGCAG	0.652													A	115782940	G	A	115782940	3	1	250	1	0	0	0	0	1	0	0	0	14039	1145	40	1	634	1	SEMA6A	5	115782940	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	552092	115782940	65132320	443	124371											
FAM170A	340069	broad.mit.edu	37	chr5	118969758	118969758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaacatgtctccttgtcGtcctattcatcctataagac	4	13	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:118969758G>A	uc003ksm.2	+	3	525	c.315G>A	c.(313-315)TCG>TCA	p.S105S	FAM170A_uc003ksl.2_Silent_p.S105S|FAM170A_uc003ksn.2_Silent_p.S105S|FAM170A_uc003kso.2_Silent_p.S58S	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	105						intracellular	zinc ion binding			skin(1)	1						TCTCCTTGTCGTCCTATTCAT	0.488													A	118969758	G	A	118969758	2	1	250	1	0	0	0	0	0	0	0	1	5489	1132	40	1		1	FAM170A	5	118969758	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3186818	118969758	61945502	444	124372											
MEGF10	84466	broad.mit.edu	37	chr5	126746174	126746174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgttaccacgtgagcggCgcatgcctctgtgaagcagg	14	10	1	2	rs148970564		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:126746174C>T	uc003kuh.3	+	10	1373	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	MEGF10_uc010jdc.1_Silent_p.G337G|MEGF10_uc010jdd.1_Silent_p.G337G|MEGF10_uc003kui.3_Silent_p.G337G	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	337	Extracellular (Potential).|EGF-like 6.|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				ovary(4)	4		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)		ACGTGAGCGGCGCATGCCTCT	0.592													T	126746174	C	T	126746174	2	4	250	1	0	0	0	0	0	0	0	1	9460	755	27	1		1	MEGF10	5	126746174	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7776416	126746174	54169086	445	124373											
SHROOM1	134549	broad.mit.edu	37	chr5	132159629	132159629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctgctaaaggaatcagtCcatccagcaggcccaggggt	11	13	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:132159629C>T	uc003kxx.2	-	7	2529	c.1724G>A	c.(1723-1725)GGA>GAA	p.G575E	SHROOM1_uc003kxy.1_Missense_Mutation_p.G575E	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	575	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAATCAGTCCATCCAGCAG	0.612													T	132159629	C	T	132159629	3	4	250	1	0	0	0	0	1	0	0	0	14293	855	30	4	850	4	SHROOM1	5	132159629	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5413455	132159629	48755631	446	124374											
AFF4	27125	broad.mit.edu	37	chr5	132232379	132232379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgaatctgaggatgagGtatctgtttctatgatttcc	9	7	4	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:132232379G>A	uc003kyd.2	-	11	2351	c.1943C>T	c.(1942-1944)ACC>ATC	p.T648I	AFF4_uc011cxk.1_Missense_Mutation_p.T326I|AFF4_uc003kye.1_Missense_Mutation_p.T648I	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	648					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGGATGAGGTATCTGTTTC	0.433													A	132232379	G	A	132232379	3	1	250	1	0	0	0	0	1	0	0	0	359	1261	44	4	1592	4	AFF4	5	132232379	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	72750	132232379	48682881	447	124375											
TCF7	6932	broad.mit.edu	37	chr5	133473765	133473766	+	Frame_Shift_Ins	INS	-	-	C													tcagcacaaggccaatcagcINSccccccacggtgtcccccaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:133473764_133473765G>GC	uc003kyt.3	+	3	652_653	c.456_457G>GC	c.(454-459)cagcccfs	p.Q152fs	TCF7_uc003kyv.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyw.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyu.2_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyy.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Frame_Shift_Ins_p.Q37fs|TCF7_uc003kza.3_Frame_Shift_Ins_p.Q37fs	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	152					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	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)			AGGCCAATCAGCCCCCCCACGG	0.574													C	133473766	-	C	133473765	7	5	250	1	0	1	1	0	0	0	0	0	15693	739	26	0	471	0	TCF7	5	133473765	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1241386	133473765	47441495	448	124376											
PHF15	23338	broad.mit.edu	37	chr5	133873698	133873698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgcgacatctacatcCgcatcaagatgctccaaact	7	13	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:133873698C>T	uc003kzo.1	+	3	257	c.78C>T	c.(76-78)TCC>TCT	p.S26S	PHF15_uc011cxt.1_Silent_p.S26S|PHF15_uc003kzk.2_Silent_p.S42S|PHF15_uc003kzl.2_Silent_p.S26S|PHF15_uc003kzm.2_Silent_p.S26S|PHF15_uc003kzn.2_Silent_p.S26S	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	26					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCTACATCCGCATCAAGAT	0.552													T	133873698	C	T	133873698	2	4	250	1	0	0	0	0	0	0	0	1	11826	639	23	1		1	PHF15	5	133873698	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	399933	133873698	47041562	449	124377											
TGFBI	7045	broad.mit.edu	37	chr5	135398902	135398902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatcaaaagttattagagaGgatgaagcattagcttgaag	10	4	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:135398902G>T	uc003lbf.3	+	17	2200	c.2039G>T	c.(2038-2040)AGG>ATG	p.R680M	TGFBI_uc003lbg.3_Missense_Mutation_p.R413M|TGFBI_uc003lbh.3_Missense_Mutation_p.R506M|TGFBI_uc011cyb.1_Missense_Mutation_p.R506M|TGFBI_uc010jed.2_Missense_Mutation_p.R378M|TGFBI_uc010jee.2_RNA	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	680					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTATTAGAGAGGATGAAGCAT	0.438													T	135398902	G	T	135398902	3	4	250	1	0	0	0	0	1	0	0	0	15817	1000	35	5	2105	5	TGFBI	5	135398902	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1525204	135398902	45516358	450	124378											
TRPC7	57113	broad.mit.edu	37	chr5	135587451	135587451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggaaggccatgaagcGtgctgtgaaggaggccacga	15	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:135587451G>A	uc003lbn.1	-	5	1465	c.1462C>T	c.(1462-1464)CGC>TGC	p.R488C	TRPC7_uc010jef.1_Missense_Mutation_p.R425C|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R419C|TRPC7_uc010jei.1_Missense_Mutation_p.R364C|TRPC7_uc010jej.1_Missense_Mutation_p.R40C	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	489	Extracellular (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCATGAAGCGTGCTGTGAAG	0.602													A	135587451	G	A	135587451	3	1	250	1	0	0	0	0	1	0	0	0	16581	1145	40	1	1151	1	TRPC7	5	135587451	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	188549	135587451	45327809	451	124379											
PCDHA2	56146	broad.mit.edu	37	chr5	140174696	140174696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcgtgggccgcatcgcGcaggacctggggctggagct	16	13	0	0	rs144324178	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140174696G>A	uc003lhd.2	+	1	253	c.147G>A	c.(145-147)GCG>GCA	p.A49A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.A49A|PCDHA2_uc011czy.1_Silent_p.A49A	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	49	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCATCGCGCAGGACCTGG	0.667													A	140174696	G	A	140174696	2	1	250	1	0	0	0	0	0	0	0	1	11524	1074	38	1		1	PCDHA2	5	140174696	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4587245	140174696	40740564	452	124380											
PCDHA2	56146	broad.mit.edu	37	chr5	140175430	140175430	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactatacagactaagtttaCcatagatcccatctcagggg	7	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140175430C>G	uc003lhd.2	+	1	987	c.881C>G	c.(880-882)ACC>AGC	p.T294S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.T294S|PCDHA2_uc011czy.1_Missense_Mutation_p.T294S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	294	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAAGTTTACCATAGATCCC	0.428													G	140175430	C	G	140175430	3	3	250	1	0	0	0	0	1	0	0	0	11524	507	18	5	883	5	PCDHA2	5	140175430	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	734	140175430	40739830	453	124381											
PCDHA4	56144	broad.mit.edu	37	chr5	140188556	140188556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtggcaaaggtgcGcgcggtggatgctgactcgg	18	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140188556G>A	uc003lhi.2	+	1	1885	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R595H|PCDHA4_uc011daa.1_Missense_Mutation_p.R595H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	595	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAGGTGCGCGCGGTGGAT	0.697													A	140188556	G	A	140188556	3	1	250	1	0	0	0	0	1	0	0	0	11526	1087	38	1	1786	1	PCDHA4	5	140188556	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	13126	140188556	40726704	454	124382											
PCDHA5	56143	broad.mit.edu	37	chr5	140201489	140201489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagccaaacacggaaccttCgttggccgcatcgcgcagga	12	13	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140201489C>T	uc003lhl.2	+	1	129	c.129C>T	c.(127-129)TTC>TTT	p.F43F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.F43F|PCDHA5_uc003lhj.1_Silent_p.F43F	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	43	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGAACCTTCGTTGGCCGCA	0.667													T	140201489	C	T	140201489	2	4	250	1	0	0	0	0	0	0	0	1	11527	883	31	1		1	PCDHA5	5	140201489	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	12933	140201489	40713771	455	124383											
PCDHA5	56143	broad.mit.edu	37	chr5	140201685	140201685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccacctggaggtgatcGtggacaggccgctgcaggtt	15	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140201685G>A	uc003lhl.2	+	1	325	c.325G>A	c.(325-327)GTG>ATG	p.V109M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V109M|PCDHA5_uc003lhj.1_Missense_Mutation_p.V109M	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	109	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.527													A	140201685	G	A	140201685	3	1	250	1	0	0	0	0	1	0	0	0	11527	1145	40	1	327	1	PCDHA5	5	140201685	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	196	140201685	40713575	456	124384											
PCDHA6	56142	broad.mit.edu	37	chr5	140209128	140209128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgcgagacgcggacgcGcaggagaacgcgctggtgtc	17	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140209128G>A	uc003lho.2	+	1	1479	c.1452G>A	c.(1450-1452)GCG>GCA	p.A484A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.A484A|PCDHA6_uc011dab.1_Silent_p.A484A	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662													A	140209128	G	A	140209128	2	1	250	1	0	0	0	0	0	0	0	1	11528	1074	38	1		1	PCDHA6	5	140209128	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7443	140209128	40706132	457	124385											
PCDHA12	56137	broad.mit.edu	37	chr5	140255202	140255202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttcgtgggccgcatcGctcaggacctggggctggag	16	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140255202G>A	uc003lic.2	+	1	272	c.145G>A	c.(145-147)GCT>ACT	p.A49T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A49T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	49	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCTCAGGACCT	0.652													A	140255202	G	A	140255202	3	1	250	1	0	0	0	0	1	0	0	0	11522	1087	38	1	147	1	PCDHA12	5	140255202	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	46074	140255202	40660058	458	124386											
PCDHA12	56137	broad.mit.edu	37	chr5	140256424	140256424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacaatgcgcctgcgttcgCgcagcccgagtacacagtgt	12	14	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140256424C>T	uc003lic.2	+	1	1494	c.1367C>T	c.(1366-1368)GCG>GTG	p.A456V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A456V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	456	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGTTCGCGCAGCCCGAG	0.662													T	140256424	C	T	140256424	3	4	250	1	0	0	0	0	1	0	0	0	11522	768	27	1	1369	1	PCDHA12	5	140256424	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1222	140256424	40658836	459	124387											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308873	140308873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatcctgtattcagattcGgaataggaaaggggatcacg	11	6	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140308873G>A	uc003lih.2	+	1	2572	c.2396G>A	c.(2395-2397)CGG>CAG	p.R799Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R799Q	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	799	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAGATTCGGAATAGGAAA	0.453													A	140308873	G	A	140308873	3	1	250	1	0	0	0	0	1	0	0	0	11532	1116	39	1	2398	1	PCDHAC1	5	140308873	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	52449	140308873	40606387	460	124388											
PCDHB1	29930	broad.mit.edu	37	chr5	140432846	140432846	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtggatggtgactcAggtcagaattcttggctttc	14	7	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140432846A>G	uc003lik.1	+	1	1868	c.1791A>G	c.(1789-1791)TCA>TCG	p.S597S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	597	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGTGACTCAGGTCAGAATT	0.488													G	140432846	A	G	140432846	2	3	250	1	0	0	0	0	0	0	0	1	11534	175	7	3		3	PCDHB1	5	140432846	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	123973	140432846	40482414	461	124389											
PCDHB2	56133	broad.mit.edu	37	chr5	140476383	140476383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggacggcttctcccAgccctacctgctgctcccgg	11	18	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140476383A>G	uc003lil.2	+	1	2147	c.2009A>G	c.(2008-2010)CAG>CGG	p.Q670R	PCDHB2_uc003lim.1_Missense_Mutation_p.Q331R	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	670	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTCTCCCAGCCCTACCTG	0.692													G	140476383	A	G	140476383	3	3	250	1	0	0	0	0	1	0	0	0	11542	188	7	3	2011	3	PCDHB2	5	140476383	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	43537	140476383	40438877	462	124390											
PCDHB5	26167	broad.mit.edu	37	chr5	140515304	140515304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagaccgggaggtgatgtgCggggcgacagaaccctgtat	16	9	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140515304C>T	uc003liq.2	+	1	505	c.288C>T	c.(286-288)TGC>TGT	p.C96C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	96	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGATGTGCGGGGCGACAG	0.433													T	140515304	C	T	140515304	2	4	250	1	0	0	0	0	0	0	0	1	11545	776	27	1		1	PCDHB5	5	140515304	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	38921	140515304	40399956	463	124391											
PCDHB5	26167	broad.mit.edu	37	chr5	140517028	140517028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcccagccctacctgcCgctgccggaggcggccccgg	12	20	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140517028C>T	uc003liq.2	+	1	2229	c.2012C>T	c.(2011-2013)CCG>CTG	p.P671L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	671	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCCGCTGCCGGAG	0.692													T	140517028	C	T	140517028	3	4	250	1	0	0	0	0	1	0	0	0	11545	652	23	1	2014	1	PCDHB5	5	140517028	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1724	140517028	40398232	464	124392											
PCDHB9	56127	broad.mit.edu	37	chr5	140567733	140567733	+	Frame_Shift_Del	DEL	T	T	-													atgcagaagtatcctattcaTtttttgatgcttctgaagat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140567733delT	uc003liw.1	+	1	841	c.841delT	c.(841-843)TTTfs	p.F281fs		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	281	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCTATTCATTTTTTGATGC	0.383													-	140567733	T	-	140567733	7	5	250	1	0	1	0	1	0	0	0	0	11549	1493	52	0	843	0	PCDHB9	5	140567733	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	50705	140567733	40347527	465	124393											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711013	140711013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catataaatgtccccgaaaaCgtgccgctgggtactcagct	9	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140711013C>T	uc003lji.1	+	1	762	c.762C>T	c.(760-762)AAC>AAT	p.N254N	PCDHGA1_uc011dan.1_Silent_p.N254N	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	254	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGAAAACGTGCCGCTGG	0.488													T	140711013	C	T	140711013	2	4	250	1	0	0	0	0	0	0	0	1	11550	535	19	1		1	PCDHGA1	5	140711013	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	143280	140711013	40204247	466	124394											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723769	140723769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacctggggctagagcccCgggagctggcggagcgcgga	19	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140723769C>T	uc003ljm.1	+	1	169	c.169C>T	c.(169-171)CGG>TGG	p.R57W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.R57W	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	57	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGAGCCCCGGGAGCTGGC	0.602											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140723769	C	T	140723769	3	4	250	1	0	0	0	0	1	0	0	0	11555	643	23	1	171	1	PCDHGA3	5	140723769	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	12756	140723769	40191491	467	124395											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744911	140744911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtggtcacagtacaGgacgtgaatgacaatgcccc	13	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140744911G>T	uc003lju.1	+	1	1014	c.1014G>T	c.(1012-1014)CAG>CAT	p.Q338H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.Q338H	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	338	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGTACAGGACGTGAATG	0.512													T	140744911	G	T	140744911	3	4	250	1	0	0	0	0	1	0	0	0	11557	991	35	5	1016	5	PCDHGA5	5	140744911	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	21142	140744911	40170349	468	124396											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799068	140799068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcagcgccaatgtgagcCtgcgcgtgttggtgggcgac	16	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140799068C>T	uc003lkn.1	+	1	1787	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.L548L|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	548	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTGAGCCTGCGCGTGTT	0.716													T	140799068	C	T	140799068	2	4	250	1	0	0	0	0	0	0	0	1	11568	680	24	4		4	PCDHGB7	5	140799068	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	54157	140799068	40116192	469	124397											
PCDHGA11	56105	broad.mit.edu	37	chr5	140800954	140800954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaatatctccaaggacctgGggctggagccccgggagctg	15	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:140800954G>T	uc003lkq.1	+	1	418	c.160G>T	c.(160-162)GGG>TGG	p.G54W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G54W|PCDHGA11_uc003lkp.1_Missense_Mutation_p.G54W	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	54	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGACCTGGGGCTGGAGCC	0.632													T	140800954	G	T	140800954	3	4	250	1	0	0	0	0	1	0	0	0	11552	1232	43	5	162	5	PCDHGA11	5	140800954	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1886	140800954	40114306	470	124398											
HDAC3	8841	broad.mit.edu	37	chr5	141004855	141004855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggaggtctgcaggcacGtcatgaatctggacactagg	14	9	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:141004855G>A	uc003llf.2	-	14	1203	c.1137C>T	c.(1135-1137)GAC>GAT	p.D379D	HDAC3_uc003lle.1_Silent_p.D322D	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	379					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTGCAGGCACGTCATGAATCT	0.512													A	141004855	G	A	141004855	2	1	250	1	0	0	0	0	0	0	0	1	7008	1136	40	1		1	HDAC3	5	141004855	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	203901	141004855	39910405	471	124399											
KIAA0141	9812	broad.mit.edu	37	chr5	141304247	141304247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactttgctggttcctgtgCctaacctcgacaggtaagat	9	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:141304247C>T	uc003lls.2	+	2	255	c.133C>T	c.(133-135)CCT>TCT	p.P45S	KIAA0141_uc003llt.2_Missense_Mutation_p.P45S	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	45					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCCTGTGCCTAACCTCGA	0.438													T	141304247	C	T	141304247	3	4	250	1	0	0	0	0	1	0	0	0	8156	739	26	2	139	2	KIAA0141	5	141304247	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	299392	141304247	39611013	472	124400											
PCDH12	51294	broad.mit.edu	37	chr5	141336951	141336951	+	Frame_Shift_Del	DEL	G	G	-													tgggtcaagagctctgtccaGggggatccgggttcgcagag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:141336950_141336950AG>A	uc003llx.3	-	0	1678	c.467_467CT>T	c.(466-468)ctgfs	p.L156fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	156	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGTCCAGGGGGATCCG	0.572													-	141336951	G	-	141336951	7	5	250	1	0	1	0	1	0	0	0	0	11510	991	35	0	3104	0	PCDH12	5	141336951	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	32704	141336951	39578309	473	124401											
SPINK13	153218	broad.mit.edu	37	chr5	147661674	147661674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtatttgcagccccgatGtaaaatgtatatcccactgg	8	10	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:147661674G>A	uc003lpc.2	+	4	178	c.116G>A	c.(115-117)TGT>TAT	p.C39Y	uc003lpb.1_Intron|SPINK13_uc010jgt.2_RNA	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	serine PI Kazal type 5-like 3 precursor	39	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0						CAGCCCCGATGTAAAATGTAT	0.418													A	147661674	G	A	147661674	3	1	250	1	0	0	0	0	1	0	0	0	15057	1377	48	4	126	4	SPINK13	5	147661674	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6324723	147661674	33253586	474	124402											
AFAP1L1	134265	broad.mit.edu	37	chr5	148691717	148691717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgggggagctgagggaGtggaggtccccagatcccca	17	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:148691717G>A	uc003lqh.2	+	9	1101	c.970G>A	c.(970-972)GTG>ATG	p.V324M	AFAP1L1_uc003lqg.3_Missense_Mutation_p.V324M|AFAP1L1_uc010jgy.2_Missense_Mutation_p.V324M	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	324							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGAGGGAGTGGAGGTCCC	0.572													A	148691717	G	A	148691717	3	1	250	1	0	0	0	0	1	0	0	0	354	1029	36	4	1004	4	AFAP1L1	5	148691717	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1030043	148691717	32223543	475	124403											
TIGD6	81789	broad.mit.edu	37	chr5	149374812	149374812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccaacatttcaccactGtggatggcttgactgaccac	8	13	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:149374812G>A	uc003lri.2	-	2	1862	c.1100C>T	c.(1099-1101)ACA>ATA	p.T367I	TIGD6_uc003lrj.2_Missense_Mutation_p.T367I	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	367	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTCACCACTGTGGATGGCTT	0.502													A	149374812	G	A	149374812	3	1	250	1	0	0	0	0	1	0	0	0	15897	1377	48	4	469	4	TIGD6	5	149374812	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	683095	149374812	31540448	476	124404											
SYNPO	11346	broad.mit.edu	37	chr5	150029852	150029852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctacccggaacgccgGgatcgaggctcaggtgtgga	14	12	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:150029852G>A	uc003lsn.2	+	3	3121	c.2747G>A	c.(2746-2748)GGG>GAG	p.G916E	SYNPO_uc003lso.3_Missense_Mutation_p.G672E|SYNPO_uc003lsp.2_Missense_Mutation_p.G672E	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	916					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			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGAACGCCGGGATCGAGGCT	0.632													A	150029852	G	A	150029852	3	1	250	1	0	0	0	0	1	0	0	0	15453	1232	43	4	2753	4	SYNPO	5	150029852	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	655040	150029852	30885408	477	124405											
FAT2	2196	broad.mit.edu	37	chr5	150908810	150908810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcttgggggaattgggGccggtgttcattgacatcag	16	6	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:150908810G>A	uc003lue.3	-	14	9968	c.9955C>T	c.(9955-9957)CCC>TCC	p.P3319S	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P12S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3319	Extracellular (Potential).|Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAATTGGGGCCGGTGTTCA	0.522													A	150908810	G	A	150908810	3	1	250	1	0	0	0	0	1	0	0	0	5690	1203	42	2	3134	2	FAT2	5	150908810	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	878958	150908810	30006450	478	124406											
FAT2	2196	broad.mit.edu	37	chr5	150924238	150924238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactctggagggatggCgttcctccatcccgagcaat	10	14	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:150924238C>T	uc003lue.3	-	9	6463	c.6450G>A	c.(6448-6450)ACG>ACA	p.T2150T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2150	Extracellular (Potential).|Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGATGGCGTTCCTCCAT	0.413													T	150924238	C	T	150924238	2	4	250	1	0	0	0	0	0	0	0	1	5690	755	27	1		1	FAT2	5	150924238	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	15428	150924238	29991022	479	124407											
LARP1	23367	broad.mit.edu	37	chr5	154172187	154172187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcctgctatagccacaGtcccacaagcctcagcctac	5	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:154172187G>A	uc003lvp.2	+	4	999	c.570G>A	c.(568-570)CAG>CAA	p.Q190Q	LARP1_uc003lvo.2_Silent_p.Q113Q|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	190							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TATAGCCACAGTCCCACAAGC	0.517													A	154172187	G	A	154172187	2	1	250	1	0	0	0	0	0	0	0	1	8628	1020	36	4		4	LARP1	5	154172187	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3247949	154172187	26743073	480	124408											
LARP1	23367	broad.mit.edu	37	chr5	154183869	154183869	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtactgcttccatcaggTacctggggcagtgggggaag	15	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:154183869T>C	uc003lvp.2	+	14	2975	c.2546_splice	c.e14+2	p.S849_splice	LARP1_uc003lvo.2_Splice_Site_p.S772_splice	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2								protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCATCAGGTACCTGGGGCA	0.532													C	154183869	T	C	154183869	5	2	250	1	0	0	0	0	0	0	1	0	8628	1652	57	3	2371	3	LARP1	5	154183869	Splice_Site	SNP	T	TCGA-HF-7132-01A-11D-2053-08	11682	154183869	26731391	481	124409											
ADRA1B	147	broad.mit.edu	37	chr5	159344089	159344089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccttcatcctctttgcCatcgtgggcaacatcctagt	9	14	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:159344089C>T	uc003lxt.1	+	1	350	c.177C>T	c.(175-177)GCC>GCT	p.A59A		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	59	Helical; Name=1; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TCCTCTTTGCCATCGTGGGCA	0.617													T	159344089	C	T	159344089	2	4	250	1	0	0	0	0	0	0	0	1	335	581	21	4		4	ADRA1B	5	159344089	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5160220	159344089	21571171	482	124410											
TLX3	30012	broad.mit.edu	37	chr5	170736389	170736389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggcgcccgccagcgCgcagaccccgcacccgcacg	14	19	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:170736389C>T	uc003mbf.2	+	1	102	c.20C>T	c.(19-21)GCG>GTG	p.A7V	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	7						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCCAGCGCGCAGACCCCG	0.771			T	BCL11B	T-ALL								T	170736389	C	T	170736389	3	4	250	1	0	0	0	0	1	0	0	0	15959	768	27	1	22	1	TLX3	5	170736389	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	11392300	170736389	10178871	483	124411											
HK3	3101	broad.mit.edu	37	chr5	176311062	176311062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcgagtgatggcttccCgcaacagactcacgacatct	10	13	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176311062C>T	uc003mfa.2	-	14	2023	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	HK3_uc003mez.2_Missense_Mutation_p.R200Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	644	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.R644W(1)		ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	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)			GATGGCTTCCCGCAACAGACT	0.587													T	176311062	C	T	176311062	3	4	250	1	0	0	0	0	1	0	0	0	7192	652	23	1	864	1	HK3	5	176311062	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5574673	176311062	4604198	484	124412											
ZNF346	23567	broad.mit.edu	37	chr5	176471425	176471426	+	Frame_Shift_Ins	INS	-	-	C													aagacaagaaccagtgctgcINScccatctgtaacatgacctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176471424_176471425G>GC	uc003mfk.1	+	4	525_526	c.482_483G>GC	c.(481-483)tgcfs	p.C161fs	ZNF346_uc003mfi.3_Frame_Shift_Ins_p.C136fs|ZNF346_uc011dfr.2_Frame_Shift_Ins_p.C104fs|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	136						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			AACCAGTGCTGCCCCATCTGTA	0.51													C	176471426	-	C	176471425	7	5	250	1	0	1	1	0	0	0	0	0	17857	747	26	0	422	0	ZNF346	5	176471425	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	160363	176471425	4443835	485	124413											
FGFR4	2264	broad.mit.edu	37	chr5	176520278	176520278	+	Frame_Shift_Del	DEL	C	C	-													caggcgctccacggccggcaCccccgcccgcccgccactgt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176520277_176520277AC>A	uc003mfl.3	+	8	1363	c.1196_1196AC>A	c.(1195-1197)cacfs	p.H399fs	FGFR4_uc003mfm.3_Frame_Shift_Del_p.H399fs|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	399					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)	CACGGCCGGCACCCCCGCCCG	0.682										TSP Lung(9;0.080)			-	176520278	C	-	176520278	7	5	250	1	0	1	0	1	0	0	0	0	5868	506	18	0	1227	0	FGFR4	5	176520278	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	48853	176520278	4394982	486	124414											
GRK6	2870	broad.mit.edu	37	chr5	176858998	176858998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatcactgccaacagagCgtgactatcacagcctgtgc	8	14	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176858998C>T	uc011dfz.1	+	3	311	c.151C>T	c.(151-153)CGT>TGT	p.R51C	GRK6_uc003mgp.2_Missense_Mutation_p.R51C|GRK6_uc003mgq.2_Missense_Mutation_p.R51C|GRK6_uc003mgs.1_Missense_Mutation_p.R21C	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	51	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-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)			GCCAACAGAGCGTGACTATCA	0.657													T	176858998	C	T	176858998	3	4	250	1	0	0	0	0	1	0	0	0	6793	768	27	1	161	1	GRK6	5	176858998	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	338720	176858998	4056262	487	124415											
DDX41	51428	broad.mit.edu	37	chr5	176938902	176938902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgatccgatgacccaggcCcccgcagaaggcacagccgc	12	16	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:176938902C>A	uc003mho.2	-	17	1780	c.1759G>T	c.(1759-1761)GGC>TGC	p.G587C	DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.G367C|DDX41_uc003mhn.2_Missense_Mutation_p.G456C|DDX41_uc003mhp.2_Missense_Mutation_p.G456C	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	587	CCHC-type.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			TGACCCAGGCCCCCGCAGAAG	0.632													A	176938902	C	A	176938902	3	1	250	1	0	0	0	0	1	0	0	0	4361	623	22	5	113	5	DDX41	5	176938902	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	79904	176938902	3976358	488	124416											
FLT4	2324	broad.mit.edu	37	chr5	180046343	180046343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctccgacatcagcgcgcGgtgctcgctggccgtggcgc	16	15	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:180046343G>A	uc003mma.3	-	19	2750	c.2671C>T	c.(2671-2673)CGC>TGC	p.R891C	FLT4_uc003mlz.3_Missense_Mutation_p.R891C	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	891	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	ATCAGCGCGCGGTGCTCGCTG	0.697									Congenital_Hereditary_Lymphedema				A	180046343	G	A	180046343	3	1	250	1	0	0	0	0	1	0	0	0	5944	1116	39	1	1476	1	FLT4	5	180046343	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3107441	180046343	868917	489	124417											
TRIM41	90933	broad.mit.edu	37	chr5	180661667	180661668	+	Frame_Shift_Del	DEL	AG	AG	-													cgcctgggcttctacaacgcAgagactctagcccacgtgca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr5:180661666_180661667CAG>C	uc003mne.2	+	5	2521_2522	c.1784_1785CAG>C	c.(1783-1785)gcafs	p.A595fs	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Frame_Shift_Del_p.A175fs	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	595	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|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)			TTCTACAACGCAGAGACTCTAG	0.594													-	180661668	AG	-	180661667	7	5	250	1	0	1	0	1	0	0	0	0	16513	175	7	0	1807	0	TRIM41	5	180661667	Frame_Shift_Del	DEL	AG	TCGA-HF-7132-01A-11D-2053-08	615324	180661667	253593	490	124418											
DUSP22	56940	broad.mit.edu	37	chr6	348149	348149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggtgatcgcatacatcAtgaccgtcactgactttggc	9	12	2	3	rs147274051		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:348149A>G	uc003msx.2	+	6	749	c.310A>G	c.(310-312)ATG>GTG	p.M104V	DUSP22_uc011dhn.1_Missense_Mutation_p.M104V|DUSP22_uc003msy.1_Missense_Mutation_p.M61V	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	104	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			ovary(1)|kidney(1)|central_nervous_system(1)	3	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)		CGCATACATCATGACCGTCAC	0.607													G	348149	A	G	348149	3	3	250	1	0	0	0	0	1	0	0	0	4821	217	8	3	332	3	DUSP22	6	348149	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08		348149	170766918	491	124419											
FAM50B	26240	broad.mit.edu	37	chr6	3850780	3850780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggacctcatcctgccGcactaccacaccttctacga	7	16	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:3850780G>A	uc003mvu.2	+	2	847	c.735G>A	c.(733-735)CCG>CCA	p.P245P		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	245						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCATCCTGCCGCACTACCACA	0.632													A	3850780	G	A	3850780	2	1	250	1	0	0	0	0	0	0	0	1	5578	1074	38	1		1	FAM50B	6	3850780	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3502631	3850780	167264287	492	124420											
CDYL	9425	broad.mit.edu	37	chr6	4952571	4952571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagggcctggtctcccaGgtgttttggcccgggacgtt	16	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:4952571G>A	uc003mwi.2	+	8	1697	c.1566G>A	c.(1564-1566)CAG>CAA	p.Q522Q	CDYL_uc003mwj.2_Silent_p.Q468Q|CDYL_uc003mwk.2_Silent_p.Q233Q|CDYL_uc011dhx.1_Silent_p.Q336Q|CDYL_uc011dhy.1_Silent_p.Q336Q	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	522					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGGTCTCCCAGGTGTTTTGGC	0.527													A	4952571	G	A	4952571	2	1	250	1	0	0	0	0	0	0	0	1	3185	991	35	4		4	CDYL	6	4952571	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1101791	4952571	166162496	493	124421											
DSP	1832	broad.mit.edu	37	chr6	7583160	7583161	+	Frame_Shift_Ins	INS	-	-	GA													atcggaaagagaaaagagtgINSagagagagaagaacagtctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:7583159_7583160T>TGA	uc003mxp.1	+	23	5943_5944	c.5664_5665T>TGA	c.(5662-5667)agtgagfs	p.S1888fs	DSP_uc003mxq.1_Frame_Shift_Ins_p.S1289fs|DSP_uc021yle.1_Frame_Shift_Ins_p.S1445fs	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1888	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.E1889V(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)		GAGAAAAGAGTGAGAGAGAGAA	0.446													GA	7583161	-	GA	7583160	7	5	250	1	0	1	1	0	0	0	0	0	4781	1291	45	0	5759	0	DSP	6	7583160	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	2630589	7583160	163531907	494	124422											
LRRC16A	55604	broad.mit.edu	37	chr6	25450638	25450638	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggaagaagtacaatggGtaagaatgtctgtgtacatg	13	4	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:25450638G>A	uc011djw.1	+	7	916	c.540_splice	c.e7+1	p.W180_splice	LRRC16A_uc010jpx.2_Splice_Site_p.W180_splice|LRRC16A_uc010jpy.2_Splice_Site_p.W180_splice|LRRC16A_uc003nez.1_Splice_Site_p.W19_splice	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						AGTACAATGGGTAAGAATGTC	0.388													A	25450638	G	A	25450638	5	1	250	1	0	0	0	0	0	0	1	0	8971	1275	44	4	567	4	LRRC16A	6	25450638	Splice_Site	SNP	G	TCGA-HF-7132-01A-11D-2053-08	17867478	25450638	145664429	495	124423											
PRSS16	10279	broad.mit.edu	37	chr6	27216672	27216672	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttggccaggatggacccaTattcctgcatctagggggtg	15	9	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:27216672T>G	uc003nja.2	+	3	296	c.284T>G	c.(283-285)ATA>AGA	p.I95R	PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_5'UTR|PRSS16_uc010jqr.1_5'UTR|PRSS16_uc003njc.1_RNA|PRSS16_uc003njd.2_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	95					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)|skin(1)	5						GATGGACCCATATTCCTGCAT	0.552													G	27216672	T	G	27216672	3	3	250	1	0	0	0	0	1	0	0	0	12616	1406	49	5	294	5	PRSS16	6	27216672	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1766034	27216672	143898395	496	124424											
C6orf15	29113	broad.mit.edu	37	chr6	31079953	31079953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggtccagagcgggctgCggatgttcagagttagaggg	18	7	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:31079953C>T	uc003nsk.1	-	2	183	c.183G>A	c.(181-183)CCG>CCA	p.P61P	PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	61											0						GAGCGGGCTGCGGATGTTCAG	0.567													T	31079953	C	T	31079953	2	4	250	1	0	0	0	0	0	0	0	1	2336	755	27	1		1	C6orf15	6	31079953	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3863281	31079953	140035114	497	124425											
CFB	629	broad.mit.edu	37	chr6	31914339	31914339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacggggtcctggagcacccTgaagactcaagaccaaaaga	11	11	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:31914339T>C	uc003nyj.3	+	2	532	c.254T>C	c.(253-255)CTG>CCG	p.L85P	CFB_uc011dor.1_Missense_Mutation_p.L587P|CFB_uc011dos.1_Missense_Mutation_p.L85P|CFB_uc003nyi.2_Missense_Mutation_p.L85P	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	85	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						TGGAGCACCCTGAAGACTCAA	0.582													C	31914339	T	C	31914339	3	2	250	1	0	0	0	0	1	0	0	0	3278	1580	55	3	260	3	CFB	6	31914339	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	834386	31914339	139200728	498	124426											
TAP2	6891	broad.mit.edu	37	chr6	32805788	32805788	+	Frame_Shift_Del	DEL	G	G	-													ggctctcagggagacagtcaGgggggtggccagacagagcg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:32805787_32805787AG>A	uc011dqf.1	-	1	346	c.224_224CT>T	c.(223-225)ctgfs	p.L75fs	TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003occ.3_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.3_Frame_Shift_Del_p.L75fs	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	75					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 T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGAGACAGTCAGGGGGGTGGC	0.687													-	32805788	G	-	32805788	7	5	250	1	0	1	0	1	0	0	0	0	15548	991	35	0	1966	0	TAP2	6	32805788	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	891449	32805788	138309279	499	124427											
PSMB8	5696	broad.mit.edu	37	chr6	32811743	32811744	+	Frame_Shift_Ins	INS	-	-	G													gattccggccgctgccctcgINSgggggctccgcatacatcta							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:32811742_32811743C>CG	uc003oce.3	-	0	74_75	c.31_32G>CG	c.(31-33)cgafs	p.R11fs	PSMB8_uc003ocf.3_Intron|PSMB8_uc011dqh.2_Frame_Shift_Ins_p.R11fs|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	11					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						CCGCTGCCCTCGGGGGGCTCCG	0.619													G	32811744	-	G	32811743	7	5	250	1	0	1	1	0	0	0	0	0	12683	1124	39	0	823	0	PSMB8	6	32811743	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	5955	32811743	138303324	500	124428											
VPS52	6293	broad.mit.edu	37	chr6	33236284	33236284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacttcccaccttgacccGgagccgatcgagcacgcctc	8	19	0	1	rs147423039		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33236284G>A	uc003odm.1	-	7	901	c.691C>T	c.(691-693)CGG>TGG	p.R231W	VPS52_uc003odn.1_Missense_Mutation_p.R106W|VPS52_uc003odo.1_Missense_Mutation_p.R156W|VPS52_uc011dqy.1_Missense_Mutation_p.R106W|VPS52_uc011dqz.1_Missense_Mutation_p.R106W	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	231					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ACCTTGACCCGGAGCCGATCG	0.587													A	33236284	G	A	33236284	3	1	250	1	0	0	0	0	1	0	0	0	17211	1115	39	1	1536	1	VPS52	6	33236284	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	424541	33236284	137878783	501	124429											
SYNGAP1	8831	broad.mit.edu	37	chr6	33410722	33410722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagccacccccaccacCgcctggtggtggtaaagacc	11	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33410722C>T	uc011dri.1	+	15	2588	c.2393C>T	c.(2392-2394)CCG>CTG	p.P798L	SYNGAP1_uc010juy.2_Missense_Mutation_p.P769L|SYNGAP1_uc010juz.2_Missense_Mutation_p.P510L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	798	SH3-binding (Potential).				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CCCCCACCACCGCCTGGTGGT	0.597													T	33410722	C	T	33410722	3	4	250	1	0	0	0	0	1	0	0	0	15444	652	23	1	2451	1	SYNGAP1	6	33410722	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	174438	33410722	137704345	502	124430											
ITPR3	3710	broad.mit.edu	37	chr6	33642006	33642006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaacatgaacctggatcGcatcggggagcaggcggagg	16	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33642006G>A	uc011drk.1	+	24	3299	c.3080G>A	c.(3079-3081)CGC>CAC	p.R1027H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1027	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						AACCTGGATCGCATCGGGGAG	0.627													A	33642006	G	A	33642006	3	1	250	1	0	0	0	0	1	0	0	0	7922	1087	38	1	3174	1	ITPR3	6	33642006	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	231284	33642006	137473061	503	124431											
ITPR3	3710	broad.mit.edu	37	chr6	33657105	33657105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagcgctacagcatccGccccctcatcgtggcgctca	8	19	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:33657105G>A	uc011drk.1	+	50	7004	c.6785G>A	c.(6784-6786)CGC>CAC	p.R2262H	ITPR3_uc003oey.2_Missense_Mutation_p.R349H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2262	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TACAGCATCCGCCCCCTCATC	0.612													A	33657105	G	A	33657105	3	1	250	1	0	0	0	0	1	0	0	0	7922	1087	38	1	6983	1	ITPR3	6	33657105	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	15099	33657105	137457962	504	124432											
SNRPC	6631	broad.mit.edu	37	chr6	34730386	34730386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacagccatctgtgagaaaGacacactgcagtggaaggaa	11	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:34730386G>T	uc003ojt.1	+	3	81	c.66G>T	c.(64-66)AAG>AAT	p.K22N		NM_003093	NP_003084	P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	22	Matrin-type.				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			pancreas(1)	1						CTGTGAGAAAGACACACTGCA	0.348													T	34730386	G	T	34730386	3	4	250	1	0	0	0	0	1	0	0	0	14863	933	33	5	76	5	SNRPC	6	34730386	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1073281	34730386	136384681	505	124433											
SCUBE3	222663	broad.mit.edu	37	chr6	35196500	35196500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattccacctggcacatgaCggacacaactgtctgggtaa	11	11	1	1	rs144991938		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:35196500C>T	uc003okf.1	+	3	324	c.318C>T	c.(316-318)GAC>GAT	p.D106D	SCUBE3_uc003okg.1_Silent_p.D106D|SCUBE3_uc003okh.1_Translation_Start_Site	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	106	EGF-like 2; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TGGCACATGACGGACACAACT	0.498													T	35196500	C	T	35196500	2	4	250	1	0	0	0	0	0	0	0	1	13946	535	19	1		1	SCUBE3	6	35196500	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	466114	35196500	135918567	506	124434											
DNAH8	1769	broad.mit.edu	37	chr6	38709643	38709643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcataaatgtgctaaatgttGcacactccaaactgctaaag	6	9	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:38709643G>A	uc003ooe.1	+	6	1222	c.622G>A	c.(622-624)GCA>ACA	p.A208T		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GCTAAATGTTGCACACTCCAA	0.353													A	38709643	G	A	38709643	3	1	250	1	0	0	0	0	1	0	0	0	4607	1319	46	2	636	2	DNAH8	6	38709643	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3513143	38709643	132405424	507	124435											
KCNK5	8645	broad.mit.edu	37	chr6	39196773	39196773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcagcttctgtgtgtAgtagtttttcttggcctcct	10	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:39196773A>G	uc003oon.2	-	1	479	c.115T>C	c.(115-117)TAC>CAC	p.Y39H		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	39					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						TTCTGTGTGTAGTAGTTTTTC	0.582													G	39196773	A	G	39196773	3	3	250	1	0	0	0	0	1	0	0	0	8069	420	15	3	1404	3	KCNK5	6	39196773	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	487130	39196773	131918294	508	124436											
LRFN2	57497	broad.mit.edu	37	chr6	40399588	40399589	+	Frame_Shift_Ins	INS	-	-	G													cacaagcacagcccgttccgINSgggggcttttgggaggctct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:40399587_40399588C>CG	uc003oph.1	-	1	1730_1731	c.1265_1266G>CG	c.(1264-1266)ccgfs	p.P422fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	422	Fibronectin type-III.					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)					CAGCCCGTTCCGGGGGGCTTTT	0.639													G	40399589	-	G	40399588	7	5	250	1	0	1	1	0	0	0	0	0	8938	1116	39	0	1112	0	LRFN2	6	40399588	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1202815	40399588	130715479	509	124437											
TRERF1	55809	broad.mit.edu	37	chr6	42227226	42227226	+	Frame_Shift_Del	DEL	G	G	-													gcatgggtgggggcgtgtaaGggggcagctcgtgggtgggg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:42227226delG	uc003osd.2	-	9	2683	c.2120delC	c.(2119-2121)CCTfs	p.P707fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.P624fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.P463fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.P463fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.P727fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	707	Pro-rich.|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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGCGTGTAAGGGGGCAGCTC	0.726													-	42227226	G	-	42227226	7	5	250	1	0	1	0	1	0	0	0	0	16472	1000	35	0	1522	0	TRERF1	6	42227226	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1827638	42227226	128887841	510	124438											
POLH	5429	broad.mit.edu	37	chr6	43568821	43568821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcagccaaatgcccattCgcaaaatgtaagtattcagg	7	10	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:43568821C>T	uc003ovq.3	+	6	1061	c.757C>T	c.(757-759)CGC>TGC	p.R253C	POLH_uc010jyu.2_Missense_Mutation_p.R129C|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.R154C	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	253	UmuC.				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(2)	2	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)			AATGCCCATTCGCAAAATGTA	0.458								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				T	43568821	C	T	43568821	3	4	250	1	0	0	0	0	1	0	0	0	12202	884	31	1	775	1	POLH	6	43568821	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1341595	43568821	127546246	511	124439											
RSPH9	221421	broad.mit.edu	37	chr6	43612962	43612962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgcgactaccgctatgatCgggttctcttctggggccgc	13	13	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:43612962C>T	uc003ovw.1	+	1	153	c.127C>T	c.(127-129)CGG>TGG	p.R43W	RSPH9_uc003ovx.1_Missense_Mutation_p.R43W	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	43					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						CCGCTATGATCGGGTTCTCTT	0.642									Kartagener_syndrome				T	43612962	C	T	43612962	3	4	250	1	0	0	0	0	1	0	0	0	13708	875	31	1	129	1	RSPH9	6	43612962	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	44141	43612962	127502105	512	124440											
GPR115	221393	broad.mit.edu	37	chr6	47678561	47678561	+	Frame_Shift_Del	DEL	A	A	-													aataggatttacatgtaatcAaaaaaagtggcaaaaatcag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:47678560_47678560CA>C	uc003oyz.1	+	4	409	c.409_409CA>C	c.(409-411)caafs	p.Q137fs	GPR115_uc003oza.1_Frame_Shift_Del_p.Q80fs|GPR115_uc003ozb.1_Frame_Shift_Del_p.Q80fs	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	80					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						TACATGTAATCAAAAAAAGTG	0.378													-	47678561	A	-	47678561	7	5	250	1	0	1	0	1	0	0	0	0	6632	130	5	0	249	0	GPR115	6	47678561	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	4065599	47678561	123436506	513	124441											
PGK2	5232	broad.mit.edu	37	chr6	49754037	49754037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtcaaacttgtccccAgtaacaaaatcaacaggaaa	5	11	3	0	rs139041045	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:49754037A>G	uc003ozu.2	-	1	971	c.864T>C	c.(862-864)ACT>ACC	p.T288T		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	288					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					ACTTGTCCCCAGTAACAAAAT	0.458													G	49754037	A	G	49754037	2	3	250	1	0	0	0	0	0	0	0	1	11791	175	7	3		3	PGK2	6	49754037	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2075476	49754037	121361030	514	124442											
PKHD1	5314	broad.mit.edu	37	chr6	51920455	51920455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaggtgtcgaggctgaCggaggctgaacctgccacag	16	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:51920455C>T	uc003pah.1	-	19	2042	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	PKHD1_uc003pai.2_Missense_Mutation_p.R589H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	589	Extracellular (Potential).				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	p.R589H(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCGAGGCTGACGGAGGCTGAA	0.547													T	51920455	C	T	51920455	3	4	250	1	0	0	0	0	1	0	0	0	11971	536	19	1	10693	1	PKHD1	6	51920455	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2166418	51920455	119194612	515	124443											
KHDRBS2	202559	broad.mit.edu	37	chr6	62442603	62442603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctttgtgtttgggtcgCatagctgttatcataagtct	9	7	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:62442603C>T	uc003peg.2	-	7	1124	c.877G>A	c.(877-879)GCG>ACG	p.A293T		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTTTGGGTCGCATAGCTGTTA	0.378													T	62442603	C	T	62442603	3	4	250	1	0	0	0	0	1	0	0	0	8147	710	25	2	184	2	KHDRBS2	6	62442603	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	10522148	62442603	108672464	516	124444											
KCNQ5	56479	broad.mit.edu	37	chr6	73902388	73902388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgatctcagtatgctcGgtcgggtggtcaaggttgaa	14	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:73902388G>A	uc003pgk.2	+	13	2157	c.1810G>A	c.(1810-1812)GGT>AGT	p.G604S	KCNQ5_uc011dyh.1_Missense_Mutation_p.G623S|KCNQ5_uc011dyi.1_Missense_Mutation_p.G614S|KCNQ5_uc010kat.2_Missense_Mutation_p.G595S|KCNQ5_uc011dyj.1_Missense_Mutation_p.G494S|KCNQ5_uc011dyk.1_Missense_Mutation_p.G354S	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	604					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGTATGCTCGGTCGGGTGGT	0.383													A	73902388	G	A	73902388	3	1	250	1	0	0	0	0	1	0	0	0	8086	1116	39	1	1921	1	KCNQ5	6	73902388	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	11459785	73902388	97212679	517	124445											
COL12A1	1303	broad.mit.edu	37	chr6	75840678	75840678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagatgcaccatgcgcGtgtttcctggcactactatc	9	14	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:75840678G>A	uc003phs.2	-	36	6123	c.5957C>T	c.(5956-5958)ACG>ATG	p.T1986M	COL12A1_uc003pht.2_Missense_Mutation_p.T822M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1986	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CACCATGCGCGTGTTTCCTGG	0.502													A	75840678	G	A	75840678	3	1	250	1	0	0	0	0	1	0	0	0	3669	1145	40	1	3358	1	COL12A1	6	75840678	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1938290	75840678	95274389	518	124446											
COL12A1	1303	broad.mit.edu	37	chr6	75843032	75843032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccagtatctgatgtgCgtcccccatcaccttcagta	6	15	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:75843032C>T	uc003phs.2	-	34	5937	c.5771G>A	c.(5770-5772)CGC>CAC	p.R1924H	COL12A1_uc003pht.2_Missense_Mutation_p.R760H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1924	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATCTGATGTGCGTCCCCCATC	0.388													T	75843032	C	T	75843032	3	4	250	1	0	0	0	0	1	0	0	0	3669	768	27	1	3552	1	COL12A1	6	75843032	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2354	75843032	95272035	519	124447											
COL12A1	1303	broad.mit.edu	37	chr6	75866132	75866132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccctctcccatgagggcGatagacaacacggtagttga	10	12	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:75866132G>A	uc003phs.2	-	15	3257	c.3091C>T	c.(3091-3093)CGC>TGC	p.R1031C	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1031	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCATGAGGGCGATAGACAACA	0.473													A	75866132	G	A	75866132	3	1	250	1	0	0	0	0	1	0	0	0	3669	1058	37	1	6308	1	COL12A1	6	75866132	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	23100	75866132	95248935	520	124448											
LCA5	167691	broad.mit.edu	37	chr6	80228566	80228566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaataatggtgtttgcctgCctttctttcttgatcagtac	8	8	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:80228566C>T	uc003pix.2	-	2	481	c.46G>A	c.(46-48)GCA>ACA	p.A16T	LCA5_uc003piy.2_Missense_Mutation_p.A16T|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.A16T	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	16					protein transport	cilium axoneme|microtubule basal body	protein binding				0		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)		TGTTTGCCTGCCTTTCTTTCT	0.413													T	80228566	C	T	80228566	3	4	250	1	0	0	0	0	1	0	0	0	8656	739	26	2	2075	2	LCA5	6	80228566	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4362434	80228566	90886501	521	124449											
IBTK	25998	broad.mit.edu	37	chr6	82912316	82912316	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaactgttttgcactAtacattgctgcaaattccag	6	9	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:82912316A>G	uc003pjl.1	-	18	3185	c.2658T>C	c.(2656-2658)TAT>TAC	p.Y886Y	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Silent_p.Y886Y|IBTK_uc011dyw.1_Silent_p.Y685Y|IBTK_uc010kbi.1_Silent_p.Y580Y|IBTK_uc003pjm.2_Silent_p.Y886Y	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	886					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		GTTTTGCACTATACATTGCTG	0.363													G	82912316	A	G	82912316	2	3	250	1	0	0	0	0	0	0	0	1	7476	456	16	3		3	IBTK	6	82912316	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2683750	82912316	88202751	522	124450											
TPBG	7162	broad.mit.edu	37	chr6	83075702	83075702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaactcaacagtgctgacCtggactgtgacccgattctt	10	11	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:83075702C>A	uc003pjn.3	+	3	1960	c.1024C>A	c.(1024-1026)CTG>ATG	p.L342M	TPBG_uc010kbj.2_Missense_Mutation_p.L342M|TPBG_uc003pjo.2_Missense_Mutation_p.L342M	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	342	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		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)		CAGTGCTGACCTGGACTGTGA	0.502													A	83075702	C	A	83075702	3	1	250	1	0	0	0	0	1	0	0	0	16391	680	24	5	1026	5	TPBG	6	83075702	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	163386	83075702	88039365	523	124451											
HTR1E	3354	broad.mit.edu	37	chr6	87725829	87725829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accacagagtttgaaaagttCcatgcctccatcaggatccc	7	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:87725829C>A	uc003pli.2	+	2	1480	c.777C>A	c.(775-777)TTC>TTA	p.F259L		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	259	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		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)	TTGAAAAGTTCCATGCCTCCA	0.498													A	87725829	C	A	87725829	3	1	250	1	0	0	0	0	1	0	0	0	7439	854	30	5	779	5	HTR1E	6	87725829	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4650127	87725829	83389238	524	124452											
GABRR2	2570	broad.mit.edu	37	chr6	89974270	89974270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgacgtaggagacgcgcGgcatggaggcattcacgccc	14	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:89974270G>T	uc003pnb.2	-	8	1030	c.1022C>A	c.(1021-1023)CCG>CAG	p.P341Q	GABRR2_uc011dzx.1_Missense_Mutation_p.P217Q	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	341					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				0		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)		GGAGACGCGCGGCATGGAGGC	0.587													T	89974270	G	T	89974270	3	4	250	1	0	0	0	0	1	0	0	0	6177	1116	39	5	458	5	GABRR2	6	89974270	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2248441	89974270	81140797	525	124453											
AIM1	202	broad.mit.edu	37	chr6	106989472	106989472	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcagggtggccgtaaAgttgaattccctacagatcc	9	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:106989472A>G	uc003prh.2	+	8	4120	c.3633A>G	c.(3631-3633)AAA>AAG	p.K1211K	AIM1_uc003pri.2_Silent_p.K15K	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1211							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	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)		GTGGCCGTAAAGTTGAATTCC	0.214													G	106989472	A	G	106989472	2	3	250	1	0	0	0	0	0	0	0	1	430	69	3	3		3	AIM1	6	106989472	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	17015202	106989472	64125595	526	124454											
SOBP	55084	broad.mit.edu	37	chr6	107824871	107824871	+	Frame_Shift_Del	DEL	A	A	-													tctctttcagaactttgcagAaaacaccatgaatgaactcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:107824870_107824870GA>G	uc003prx.3	+	1	610	c.106_106GA>G	c.(106-108)gaafs	p.E36fs	SOBP_uc003prw.1_Frame_Shift_Del_p.E36fs	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	36							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)		GAACTTTGCAGAAAACACCAT	0.368													-	107824871	A	-	107824871	7	5	250	1	0	1	0	1	0	0	0	0	14912	246	9	0	113	0	SOBP	6	107824871	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	835399	107824871	63290196	527	124455											
C6orf182	285753	broad.mit.edu	37	chr6	109471409	109471409	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagaatggttctcaacgtAgagcgagaaaagaacatgat	11	5	1	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:109471409A>G	uc010kdk.2	+	6	1006	c.429A>G	c.(427-429)GTA>GTG	p.V143V	C6orf182_uc003psv.3_Silent_p.V127V|C6orf182_uc003psw.3_Silent_p.V143V|C6orf182_uc003psx.3_Silent_p.V143V|C6orf182_uc010kdl.2_Silent_p.V143V|C6orf182_uc003psy.3_Silent_p.V143V	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	143	Potential.					microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		TTCTCAACGTAGAGCGAGAAA	0.303													G	109471409	A	G	109471409	2	3	250	1	0	0	0	0	0	0	0	1	2346	407	15	3		3	C6orf182	6	109471409	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1646538	109471409	61643658	528	124456											
ZBTB24	9841	broad.mit.edu	37	chr6	109787365	109787365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctctggctgctgcgtgaGcagggtaagattagcagcct	14	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:109787365G>A	uc003ptl.1	-	7	1951	c.1783C>T	c.(1783-1785)CTC>TTC	p.L595F	MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.L539F|ZBTB24_uc010kdt.1_RNA	NM_014797	NP_055612	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24 isoform	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		TGCTGCGTGAGCAGGGTAAGA	0.473													A	109787365	G	A	109787365	3	1	250	1	0	0	0	0	1	0	0	0	17528	971	34	2	314	2	ZBTB24	6	109787365	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	315956	109787365	61327702	529	124457											
WASF1	8936	broad.mit.edu	37	chr6	110423249	110423249	+	Frame_Shift_Del	DEL	G	G	-													cagtggctggaggtggaggtGggggaggtactggaggggga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:110423248_110423248TG>T	uc003ptv.1	-	9	1902	c.1065_1065CA>A	c.(1063-1065)ccafs	p.P355fs	WASF1_uc003ptw.1_Frame_Shift_Del_p.P355fs|WASF1_uc003ptx.1_Frame_Shift_Del_p.P355fs|WASF1_uc003pty.1_Frame_Shift_Del_p.P355fs	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	355	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GAGGTGGAGGTGGGGGAGGTA	0.572													-	110423249	G	-	110423249	7	5	250	1	0	1	0	1	0	0	0	0	17249	1348	47	0	623	0	WASF1	6	110423249	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	635884	110423249	60691818	530	124458											
DDO	8528	broad.mit.edu	37	chr6	110714089	110714089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgcccccactcccatgGccatagtggtggactacagg	12	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:110714089G>A	uc003puc.2	-	5	1003	c.999C>T	c.(997-999)GGC>GGT	p.G333G	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Silent_p.G274G	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	305					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		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)		CACTCCCATGGCCATAGTGGT	0.642													A	110714089	G	A	110714089	2	1	250	1	0	0	0	0	0	0	0	1	4334	1190	42	2		2	DDO	6	110714089	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	290840	110714089	60400978	531	124459											
RPF2	84154	broad.mit.edu	37	chr6	111336989	111336989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccacagtatcaaatatcCgcctggctggattagagtat	9	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:111336989C>T	uc003pun.2	+	8	545	c.526C>T	c.(526-528)CGC>TGC	p.R176C	RPF2_uc003puo.2_Missense_Mutation_p.R113C	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	176	Brix.					nucleolus	protein binding			ovary(2)	2						ATCAAATATCCGCCTGGCTGG	0.338													T	111336989	C	T	111336989	3	4	250	1	0	0	0	0	1	0	0	0	13547	652	23	1	556	1	RPF2	6	111336989	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	622900	111336989	59778078	532	124460											
LAMA4	3910	broad.mit.edu	37	chr6	112496670	112496672	+	In_Frame_Del	DEL	TTG	TTG	-													cttccccataatagagcatcTtgttgttgatctctgaaagg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:112496669_112496671CTTG>C	uc003pvu.2	-	10	1510_1512	c.1201_1203CAAG>G	c.(1201-1203)aag>G	p.K401del	LAMA4_uc003pvv.2_In_Frame_Del_p.K394del|LAMA4_uc003pvt.2_In_Frame_Del_p.K394del	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	401	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)		AATAGAGCATCTTGTTGTTGATC	0.493													-	112496672	TTG	-	112496670	7	5	250	1	0	1	0	1	0	0	0	0	8608	1609	56	0	4385	0	LAMA4	6	112496670	In_Frame_Del	DEL	TTG	TCGA-HF-7132-01A-11D-2053-08	1159681	112496670	58618397	533	124461											
C6orf170	221322	broad.mit.edu	37	chr6	121577313	121577313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatgtactatatatgtgacGacacacagaaataaaagctc	6	8	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:121577313G>A	uc003pyo.1	-	16	1920	c.1852C>T	c.(1852-1854)CGT>TGT	p.R618C	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.R137C	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	618					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TATATGTGACGACACACAGAA	0.338													A	121577313	G	A	121577313	3	1	250	1	0	0	0	0	1	0	0	0	2344	1058	37	1	1989	1	C6orf170	6	121577313	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	9080643	121577313	49537754	534	124462											
TPD52L1	7164	broad.mit.edu	37	chr6	125550288	125550288	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgaaattacaacactaCgacaagttttgtcagcgaaa	7	8	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:125550288C>T	uc003pzu.1	+	3	379	c.160C>T	c.(160-162)CGA>TGA	p.R54*	TPD52L1_uc003pzv.1_Nonsense_Mutation_p.R54*|TPD52L1_uc003pzw.1_Nonsense_Mutation_p.R54*|TPD52L1_uc003pzx.1_Nonsense_Mutation_p.R25*|TPD52L1_uc003pzy.1_Nonsense_Mutation_p.R25*|TPD52L1_uc003pzz.1_Nonsense_Mutation_p.R25*	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	54	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TACAACACTACGACAAGTTTT	0.408													T	125550288	C	T	125550288	4	4	250	1	0	0	0	0	0	1	0	0	16395	528	19	1	170	1	TPD52L1	6	125550288	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3972975	125550288	45564779	535	124463											
LAMA2	3908	broad.mit.edu	37	chr6	129621993	129621993	+	Frame_Shift_Del	DEL	C	C	-													tgtgcacccaatacctggggCcacagcattaccactggttg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:129621992_129621992GC>G	uc021zfb.1	+	21	3254	c.3149_3149GC>G	c.(3148-3150)ggcfs	p.G1050fs	LAMA2_uc003qbn.3_Frame_Shift_Del_p.G1050fs|LAMA2_uc003qbo.3_Frame_Shift_Del_p.G1050fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1050	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)		AATACCTGGGGCCACAGCATT	0.423													-	129621993	C	-	129621993	7	5	250	1	0	1	0	1	0	0	0	0	8606	726	26	0	3236	0	LAMA2	6	129621993	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	4071705	129621993	41493074	536	124464											
ENPP3	5169	broad.mit.edu	37	chr6	131973697	131973697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagctcgaatatggatgtGcaataaatttcgttgtggag	11	5	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:131973697G>A	uc003qcu.3	+	5	640	c.293G>A	c.(292-294)TGC>TAC	p.C98Y	ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.C64Y|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.C98Y	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	98	Extracellular (Potential).|SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATATGGATGTGCAATAAATTT	0.353													A	131973697	G	A	131973697	3	1	250	1	0	0	0	0	1	0	0	0	5131	1319	46	2	307	2	ENPP3	6	131973697	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2351704	131973697	39141370	537	124465											
VNN2	8875	broad.mit.edu	37	chr6	133070863	133070863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaggtgacagatgaatttCggtaagtagcacttcaggaa	11	7	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:133070863C>T	uc003qdt.2	-	6	1353	c.1342G>A	c.(1342-1344)GAA>AAA	p.E448K	VNN2_uc003qds.2_Missense_Mutation_p.E157K|VNN2_uc010kgb.2_Missense_Mutation_p.E227K|VNN2_uc003qdv.2_Missense_Mutation_p.E395K	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	448					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATGAATTTCGGTAAGTAGC	0.373													T	133070863	C	T	133070863	3	4	250	1	0	0	0	0	1	0	0	0	17180	893	31	1	228	1	VNN2	6	133070863	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1097166	133070863	38044204	538	124466											
KIAA1244	57221	broad.mit.edu	37	chr6	138655839	138655839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcatccaccccatccacCgggggcttctctgggaaaga	11	14	2	1	rs147588243	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:138655839C>T	uc003qhu.2	+	33	5856	c.5856C>T	c.(5854-5856)ACC>ACT	p.T1952T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1952					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCCCATCCACCGGGGGCTTCT	0.617													T	138655839	C	T	138655839	2	4	250	1	0	0	0	0	0	0	0	1	8217	639	23	1		1	KIAA1244	6	138655839	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5584976	138655839	32459228	539	124467											
ECT2L	345930	broad.mit.edu	37	chr6	139186191	139186191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcttccatctacttctgCgaatcgaagctacagacgtg	7	14	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:139186191C>T	uc003qif.1	+	10	1453	c.1350C>T	c.(1348-1350)TGC>TGT	p.C450C	ECT2L_uc011edq.1_Silent_p.C381C	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	450					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						TCTACTTCTGCGAATCGAAGC	0.458													T	139186191	C	T	139186191	2	4	250	1	0	0	0	0	0	0	0	1	4902	776	27	1		1	ECT2L	6	139186191	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	530352	139186191	31928876	540	124468											
LTV1	84946	broad.mit.edu	37	chr6	144165680	144165680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgtgtcttttcacttgGtccaccggagccaacgagat	10	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:144165680G>A	uc003qjs.2	+	2	168	c.61G>A	c.(61-63)GTC>ATC	p.V21I		NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	21										ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TTTTCACTTGGTCCACCGGAG	0.433													A	144165680	G	A	144165680	3	1	250	1	0	0	0	0	1	0	0	0	9081	1261	44	4	67	4	LTV1	6	144165680	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4979489	144165680	26949387	541	124469											
STX11	8676	broad.mit.edu	37	chr6	144508363	144508363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccgacgtgaagggcgCgcgggccgccctcaacgaga	17	14	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:144508363C>T	uc003qks.3	+	2	791	c.599C>T	c.(598-600)GCG>GTG	p.A200V		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	200				ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).|A -> V (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTGAAGGGCGCGCGGGCCGCC	0.632									Familial_Hemophagocytic_Lymphohistiocytosis				T	144508363	C	T	144508363	3	4	250	1	0	0	0	0	1	0	0	0	15336	768	27	1	601	1	STX11	6	144508363	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	342683	144508363	26606704	542	124470											
GRM1	2911	broad.mit.edu	37	chr6	146350672	146350673	+	Frame_Shift_Ins	INS	-	-	T													catggtcgggctccttttgtINStttttttcccagcgatcttt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:146350671_146350672G>GT	uc010khw.1	+	1	488_489	c.18_19G>GT	c.(16-21)ttgtttfs	p.L6fs	GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	6					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)	GGCTCCTTTTGTTTTTTTTCCC	0.644													T	146350673	-	T	146350672	7	5	250	1	0	1	1	0	0	0	0	0	6796	1725	60	0	21	0	GRM1	6	146350672	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1842309	146350672	24764395	543	124471											
SASH1	23328	broad.mit.edu	37	chr6	148792601	148792601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatttctggcagaacttccGaaagaaccagaaaggaataa	9	7	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:148792601G>A	uc003qme.1	+	6	951	c.476G>A	c.(475-477)CGA>CAA	p.R159Q		NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	159							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGAACTTCCGAAAGAACCAG	0.338													A	148792601	G	A	148792601	3	1	250	1	0	0	0	0	1	0	0	0	13848	1058	37	1	498	1	SASH1	6	148792601	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2441929	148792601	22322466	544	124472											
ZC3H12D	340152	broad.mit.edu	37	chr6	149777807	149777807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccggacctaccggtcGttgacgaaggagaacatgag	13	12	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:149777807G>A	uc003qmn.1	-	3	745	c.675C>T	c.(673-675)AAC>AAT	p.N225N	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.N225N|ZC3H12D_uc010kid.2_Silent_p.N225N	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	225						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CCTACCGGTCGTTGACGAAGG	0.532													A	149777807	G	A	149777807	2	1	250	1	0	0	0	0	0	0	0	1	17561	1136	40	1		1	ZC3H12D	6	149777807	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	985206	149777807	21337260	545	124473											
C6orf211	79624	broad.mit.edu	37	chr6	151790201	151790201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctgagcccagctggtggAccactggaaaatatggaata	11	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:151790201A>G	uc003qok.1	+	5	1541	c.1282A>G	c.(1282-1284)ACC>GCC	p.T428A	C6orf211_uc011ees.1_Missense_Mutation_p.T309A	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	428							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CAGCTGGTGGACCACTGGAAA	0.483													G	151790201	A	G	151790201	3	3	250	1	0	0	0	0	1	0	0	0	2354	275	10	3	1300	3	C6orf211	6	151790201	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2012394	151790201	19324866	546	124474											
ESR1	2099	broad.mit.edu	37	chr6	152129139	152129139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgaaccgtccgcagcTcaagatccccctggagcggc	11	18	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:152129139T>C	uc003qom.3	+	3	462	c.92T>C	c.(91-93)CTC>CCC	p.L31P	ESR1_uc010kin.2_Missense_Mutation_p.L31P|ESR1_uc010kio.2_Missense_Mutation_p.L31P|ESR1_uc010kip.2_Missense_Mutation_p.L31P|ESR1_uc003qon.3_Missense_Mutation_p.L31P|ESR1_uc003qoo.3_Missense_Mutation_p.L31P|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Missense_Mutation_p.L31P	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	31	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			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		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)	CGTCCGCAGCTCAAGATCCCC	0.642													C	152129139	T	C	152129139	3	2	250	1	0	0	0	0	1	0	0	0	5256	1551	54	3	94	3	ESR1	6	152129139	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	338938	152129139	18985928	547	124475											
SYNE1	23345	broad.mit.edu	37	chr6	152605134	152605134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaaagctgccgtttcccCgaggctttcatcctgatggt	9	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:152605134C>T	uc010kiw.2	-	96	18788	c.18186G>A	c.(18184-18186)TCG>TCA	p.S6062S	SYNE1_uc010kiv.2_Silent_p.S586S|SYNE1_uc003qos.3_Silent_p.S586S|SYNE1_uc003qot.3_Silent_p.S5991S|SYNE1_uc003qou.3_Silent_p.S6062S|SYNE1_uc010kiy.1_Silent_p.S241S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6062	Spectrin 20.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCGTTTCCCCGAGGCTTTCA	0.507										HNSCC(10;0.0054)			T	152605134	C	T	152605134	2	4	250	1	0	0	0	0	0	0	0	1	15442	639	23	1		1	SYNE1	6	152605134	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	475995	152605134	18509933	548	124476											
SYNE1	23345	broad.mit.edu	37	chr6	152847285	152847285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatgtcttcaaaaagaTcgtccaccaccattggaggt	7	11	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:152847285T>C	uc010kiw.2	-	5	757	c.155A>G	c.(154-156)GAT>GGT	p.D52G	SYNE1_uc003qot.3_Missense_Mutation_p.D52G|SYNE1_uc003qou.3_Missense_Mutation_p.D52G|SYNE1_uc010kjb.1_Missense_Mutation_p.D52G|SYNE1_uc003qpa.1_Missense_Mutation_p.D52G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	52	Actin-binding.|Cytoplasmic (Potential).|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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAAAAAGATCGTCCACCAC	0.338										HNSCC(10;0.0054)			C	152847285	T	C	152847285	3	2	250	1	0	0	0	0	1	0	0	0	15442	1435	50	3	26904	3	SYNE1	6	152847285	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	242151	152847285	18267782	549	124477											
TIAM2	26230	broad.mit.edu	37	chr6	155504511	155504511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccggacacaaaagcaaccCtgtgtacatcctggtcagac	8	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:155504511C>A	uc003qqb.2	+	16	4214	c.2941C>A	c.(2941-2943)CTG>ATG	p.L981M	TIAM2_uc003qqe.2_Missense_Mutation_p.L981M|TIAM2_uc010kjj.2_Missense_Mutation_p.L514M|TIAM2_uc003qqf.2_Missense_Mutation_p.L357M|TIAM2_uc011efl.1_Missense_Mutation_p.L317M|TIAM2_uc003qqg.2_Missense_Mutation_p.L293M	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	981					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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAAAGCAACCCTGTGTACATC	0.542													A	155504511	C	A	155504511	3	1	250	1	0	0	0	0	1	0	0	0	15888	680	24	5	2983	5	TIAM2	6	155504511	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2657226	155504511	15610556	550	124478											
TIAM2	26230	broad.mit.edu	37	chr6	155565829	155565834	+	In_Frame_Del	DEL	AGTTTC	AGTTTC	-													aagtttgccagagatgcttgAgtttcagaaggtgtttctgg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:155565828_155565833GAGTTTC>G	uc003qqb.3	+	19	4727_4732	c.3454_3459GAGTTTC>G	c.(3454-3459)gagttt>G	p.EF1152del	TIAM2_uc003qqe.3_In_Frame_Del_p.EF1152del|TIAM2_uc010kjj.3_In_Frame_Del_p.EF685del|TIAM2_uc003qqf.3_In_Frame_Del_p.EF528del|TIAM2_uc011efl.1_In_Frame_Del_p.EF488del|TIAM2_uc003qqg.3_In_Frame_Del_p.EF464del|TIAM2_uc003qqh.3_In_Frame_Del_p.EF77del	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1152	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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein 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)		AGAGATGCTTGAGTTTCAGAAGGTGT	0.437													-	155565834	AGTTTC	-	155565829	7	5	250	1	0	1	0	1	0	0	0	0	15888	304	11	0	3513	0	TIAM2	6	155565829	In_Frame_Del	DEL	AGTTTC	TCGA-HF-7132-01A-11D-2053-08	61318	155565829	15549238	551	124479											
TFB1M	51106	broad.mit.edu	37	chr6	155581417	155581417	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattcttacctgagccctcGatggcagtatttccttcgga	9	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:155581417G>A	uc003qqj.3	-	6	848	c.784C>T	c.(784-786)CGA>TGA	p.R262*	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CTGAGCCCTCGATGGCAGTAT	0.423													A	155581417	G	A	155581417	4	1	250	1	0	0	0	0	0	1	0	0	15790	1066	37	1	264	1	TFB1M	6	155581417	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	15588	155581417	15533650	552	124480											
ARID1B	57492	broad.mit.edu	37	chr6	157528079	157528079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcctctgtgtaccatcgCgcactggcaggactcgctgg	12	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:157528079C>T	uc003qqn.2	+	20	5902	c.5750C>T	c.(5749-5751)GCG>GTG	p.A1917V	ARID1B_uc003qqo.2_Missense_Mutation_p.A1877V|ARID1B_uc003qqp.2_Missense_Mutation_p.A1864V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGTACCATCGCGCACTGGCAG	0.532													T	157528079	C	T	157528079	3	4	250	1	0	0	0	0	1	0	0	0	914	768	27	1	5882	1	ARID1B	6	157528079	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1946662	157528079	13586988	553	124481											
EZR	7430	broad.mit.edu	37	chr6	159190862	159190862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcctgtctctccagcTcctccttagcccgcagtgca	7	20	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:159190862T>C	uc003qrt.3	-	10	1420	c.1205A>G	c.(1204-1206)GAG>GGG	p.E402G	EZR_uc011efr.1_Missense_Mutation_p.E9G|EZR_uc011efs.1_Missense_Mutation_p.E370G|EZR_uc003qru.3_Missense_Mutation_p.E402G	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	402	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			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCTCTCCAGCTCCTCCTTAGC	0.587													C	159190862	T	C	159190862	3	2	250	1	0	0	0	0	1	0	0	0	5335	1551	54	3	571	3	EZR	6	159190862	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1662783	159190862	11924205	554	124482											
TAGAP	117289	broad.mit.edu	37	chr6	159457193	159457193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcctcgccctcatgctcCccaccgtcatgctccccacg	6	22	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:159457193C>T	uc003qrz.2	-	10	2194	c.1862G>A	c.(1861-1863)GGG>GAG	p.G621E	TAGAP_uc011eft.1_Missense_Mutation_p.G558E|TAGAP_uc003qsa.2_Missense_Mutation_p.G443E	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	621					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCTCATGCTCCCCACCGTCAT	0.642													T	159457193	C	T	159457193	3	4	250	1	0	0	0	0	1	0	0	0	15534	623	22	4	337	4	TAGAP	6	159457193	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	266331	159457193	11657874	555	124483											
PARK2	5071	broad.mit.edu	37	chr6	161969940	161969940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttcctctggtcaggctcCggcagcagccccgctccaca	9	18	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:161969940C>T	uc003qtx.3	-	9	1163	c.1029G>A	c.(1027-1029)CCG>CCA	p.P343P	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Silent_p.P152P|PARK2_uc003qtw.3_Silent_p.P152P|PARK2_uc003qty.3_Silent_p.P315P|PARK2_uc003qtz.3_Silent_p.P194P|PARK2_uc010kke.1_Silent_p.P362P|PARK2_uc011egf.1_Silent_p.P17P	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	343	IBR-type.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGTCAGGCTCCGGCAGCAGCC	0.637													T	161969940	C	T	161969940	2	4	250	1	0	0	0	0	0	0	0	1	11449	639	23	1		1	PARK2	6	161969940	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2512747	161969940	9145127	556	124484											
UNC93A	54346	broad.mit.edu	37	chr6	167708152	167708152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctccatgtgtggctacGtggccttctccgtgggcaac	11	14	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:167708152G>A	uc003qvq.2	+	2	410	c.235G>A	c.(235-237)GTG>ATG	p.V79M	UNC93A_uc003qvr.2_Missense_Mutation_p.V79M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	79	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGTGGCTACGTGGCCTTCTC	0.642													A	167708152	G	A	167708152	3	1	250	1	0	0	0	0	1	0	0	0	16993	1145	40	1	241	1	UNC93A	6	167708152	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5738212	167708152	3406915	557	124485											
MLLT4	4301	broad.mit.edu	37	chr6	168352423	168352423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgctccgttttctccCctgactgcacagcagatgaa	7	15	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr6:168352423C>T	uc003qwd.2	+	29	4507	c.4365C>T	c.(4363-4365)CCC>CCT	p.P1455P	MLLT4_uc003qwb.1_Silent_p.P1440P|MLLT4_uc003qwc.1_Silent_p.P1456P|MLLT4_uc003qwg.1_Silent_p.P765P	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1456					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		CGTTTTCTCCCCTGACTGCAC	0.617			T	MLL	AL								T	168352423	C	T	168352423	2	4	250	1	0	0	0	0	0	0	0	1	9629	610	22	4		4	MLLT4	6	168352423	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	644271	168352423	2762644	558	124486											
PRKAR1B	5575	broad.mit.edu	37	chr7	635869	635869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcagccctgggggtgcCgtagatgagcgccagctccc	16	14	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:635869C>T	uc003siu.1	-	8	728	c.622G>A	c.(622-624)GGC>AGC	p.G208S	PRKAR1B_uc003siv.2_Missense_Mutation_p.G208S|PRKAR1B_uc003siw.1_Missense_Mutation_p.G208S|PRKAR1B_uc003six.1_RNA	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	208	cAMP 1.				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				0		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)		CTGGGGGTGCCGTAGATGAGC	0.617													T	635869	C	T	635869	3	4	250	1	0	0	0	0	1	0	0	0	12504	652	23	1	543	1	PRKAR1B	7	635869	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08		635869	158502794	559	124487											
PRKAR1B	5575	broad.mit.edu	37	chr7	720281	720281	+	Frame_Shift_Del	DEL	G	G	-													gggccttcaccacagggttcGggggggtgggcgacacctcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:720280_720280CG>C	uc003siu.2	-	2	394	c.261_261CG>G	c.(259-261)ccgfs	p.P87fs	PRKAR1B_uc021zyi.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siv.3_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyj.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc021zyk.1_Frame_Shift_Del_p.P87fs|PRKAR1B_uc003siw.2_Frame_Shift_Del_p.P87fs	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	87	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|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	p.P87T(1)		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)		CCACAGGGTTCGGGGGGGTGG	0.622													-	720281	G	-	720281	7	5	250	1	0	1	0	1	0	0	0	0	12504	1116	39	0	921	0	PRKAR1B	7	720281	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	84412	720281	158418382	560	124488											
SUN1	23353	broad.mit.edu	37	chr7	891069	891069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcggagctgtgggccaggCtgtgtccaggacggcgtggt	19	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:891069C>A	uc011jvp.1	+	7	786	c.707C>A	c.(706-708)GCT>GAT	p.A236D	GET4_uc003sjj.1_5'Flank|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.A141D|SUN1_uc011jvr.1_Intron|SUN1_uc003sji.2_Missense_Mutation_p.A74D|SUN1_uc003sjk.2_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	263	SYNE2-binding.|Nuclear.|EMD-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GTGGGCCAGGCTGTGTCCAGG	0.607													A	891069	C	A	891069	3	1	250	1	0	0	0	0	1	0	0	0	15388	797	28	5	912	5	SUN1	7	891069	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	170788	891069	158247594	561	124489											
GPR146	115330	broad.mit.edu	37	chr7	1097241	1097241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgtcactgttgtcGctgctgggcctggtggtggg	19	9	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1097241G>A	uc003sjw.2	+	2	166	c.90G>A	c.(88-90)TCG>TCA	p.S30S	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Silent_p.S30S|GPR146_uc003sjy.1_Silent_p.S30S	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	30	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CACTGTTGTCGCTGCTGGGCC	0.677													A	1097241	G	A	1097241	2	1	250	1	0	0	0	0	0	0	0	1	6652	1074	38	1		1	GPR146	7	1097241	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	206172	1097241	158041422	562	124490											
GPER	2852	broad.mit.edu	37	chr7	1132424	1132424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaaccgcttctgtcacGctgccctgaaggccgtcatt	9	16	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1132424G>A	uc010ksd.1	+	2	1449	c.1060G>A	c.(1060-1062)GCT>ACT	p.A354T	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A354T|GPER_uc003ska.1_Missense_Mutation_p.A354T|GPER_uc003skb.2_Missense_Mutation_p.A354T	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	354	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CTTCTGTCACGCTGCCCTGAA	0.587													A	1132424	G	A	1132424	3	1	250	1	0	0	0	0	1	0	0	0	6607	1087	38	1	1062	1	GPER	7	1132424	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	35183	1132424	158006239	563	124491											
INTS1	26173	broad.mit.edu	37	chr7	1518027	1518027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcaggtccggctccacGctgcactgctccccagacct	9	18	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1518027G>A	uc003skn.2	-	33	4706	c.4605C>T	c.(4603-4605)AGC>AGT	p.S1535S	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1535					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCGGCTCCACGCTGCACTGCT	0.667													A	1518027	G	A	1518027	2	1	250	1	0	0	0	0	0	0	0	1	7775	1078	38	1		1	INTS1	7	1518027	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	385603	1518027	157620636	564	124492											
INTS1	26173	broad.mit.edu	37	chr7	1535174	1535174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatctggttctggaatgagCggagcacttccaggtctgaa	12	9	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1535174C>T	uc003skn.2	-	13	1828	c.1727G>A	c.(1726-1728)CGC>CAC	p.R576H	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	576					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGGAATGAGCGGAGCACTTC	0.612													T	1535174	C	T	1535174	3	4	250	1	0	0	0	0	1	0	0	0	7775	768	27	1	4989	1	INTS1	7	1535174	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	17147	1535174	157603489	565	124493											
MAD1L1	8379	broad.mit.edu	37	chr7	1937855	1937855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaagatgaggcagtcgCctgggtgctcggcgtacagc	15	11	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:1937855C>A	uc003slh.1	-	18	2245	c.1979G>T	c.(1978-1980)GGC>GTC	p.G660V	MAD1L1_uc003sle.1_Missense_Mutation_p.G389V|MAD1L1_uc003slf.1_Missense_Mutation_p.G660V|MAD1L1_uc003slg.1_Missense_Mutation_p.G660V|MAD1L1_uc010ksh.1_Missense_Mutation_p.G660V|MAD1L1_uc003sli.1_Missense_Mutation_p.G568V|MAD1L1_uc010ksi.1_Missense_Mutation_p.G613V|MAD1L1_uc010ksj.2_Missense_Mutation_p.G660V|MAD1L1_uc003sld.1_Missense_Mutation_p.G116V	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	660					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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GAGGCAGTCGCCTGGGTGCTC	0.632													A	1937855	C	A	1937855	3	1	250	1	0	0	0	0	1	0	0	0	9147	739	26	5	185	5	MAD1L1	7	1937855	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	402681	1937855	157200808	566	124494											
TNRC18	84629	broad.mit.edu	37	chr7	5353487	5353487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccctcctccagggtagcGgctctgtctgcaaaacaaaa	8	14	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:5353487G>A	uc003soi.3	-	27	7384	c.7035C>T	c.(7033-7035)GCC>GCT	p.A2345A		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2345							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGGGTAGCGGCTCTGTCTG	0.587													A	5353487	G	A	5353487	2	1	250	1	0	0	0	0	0	0	0	1	16336	1103	39	1		1	TNRC18	7	5353487	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3415632	5353487	153785176	567	124495											
RNF216	54476	broad.mit.edu	37	chr7	5765046	5765046	+	Frame_Shift_Del	DEL	T	T	-													tctggtgacagctcctgccaTtttttaatggcatcagacaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:5765045_5765045AT>A	uc003sox.2	-	7	1673	c.1414_1414AT>T	c.(1414-1416)tggfs	p.W472fs	RNF216_uc010ksz.2_Frame_Shift_Del_p.W37fs|RNF216_uc010kta.2_Frame_Shift_Del_p.W37fs|RNF216_uc003soy.2_Frame_Shift_Del_p.W415fs|RNF216_uc011jwj.2_Frame_Shift_Del_p.W37fs	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	415					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		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)		AGCTCCTGCCATTTTTTAATG	0.368													-	5765046	T	-	5765046	7	5	250	1	0	1	0	1	0	0	0	0	13480	1490	52	0	1398	0	RNF216	7	5765046	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	411559	5765046	153373617	568	124496											
OCM	654231	broad.mit.edu	37	chr7	5922230	5922230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatagacaacgaccagagCgggtacctggatgaagaaga	12	8	1	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:5922230C>T	uc003spe.3	+	2	260	c.168C>T	c.(166-168)AGC>AGT	p.S56S		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	oncomodulin	56	1.|EF-hand 1.	Calcium 1.					calcium ion binding				0		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ACGACCAGAGCGGGTACCTGG	0.527													T	5922230	C	T	5922230	2	4	250	1	0	0	0	0	0	0	0	1	10821	767	27	1		1	OCM	7	5922230	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	157184	5922230	153216433	569	124497											
USP42	84132	broad.mit.edu	37	chr7	6187483	6187483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaacaaacaggctgcgcCaggctttatcggaccacagc	9	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:6187483C>T	uc011jwo.1	+	12	1469	c.1346C>T	c.(1345-1347)CCA>CTA	p.P449L	USP42_uc010kth.1_Missense_Mutation_p.P382L|USP42_uc011jwp.1_Missense_Mutation_p.P449L|USP42_uc011jwq.1_Missense_Mutation_p.P256L|USP42_uc011jwr.1_Missense_Mutation_p.P294L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	449					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGCTGCGCCAGGCTTTATC	0.473													T	6187483	C	T	6187483	3	4	250	1	0	0	0	0	1	0	0	0	17070	594	21	4	1388	4	USP42	7	6187483	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	265253	6187483	152951180	570	124498											
THSD7A	221981	broad.mit.edu	37	chr7	11457139	11457139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagggcatggtaattTgcacactctagagcccaggg	12	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:11457139T>C	uc003ssf.3	-	16	3727	c.3475A>G	c.(3475-3477)AAA>GAA	p.K1159E		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1159	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATGGTAATTTGCACACTCTA	0.438										HNSCC(18;0.044)			C	11457139	T	C	11457139	3	2	250	1	0	0	0	0	1	0	0	0	15876	1821	63	3	1546	3	THSD7A	7	11457139	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	5269656	11457139	147681524	571	124499											
CDCA7L	55536	broad.mit.edu	37	chr7	21942677	21942677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcacagcggccgtcaCgcttccgacagtagctgcaa	12	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:21942677C>T	uc010kuk.2	-	9	1373	c.1253G>A	c.(1252-1254)CGT>CAT	p.R418H	CDCA7L_uc003sve.3_Missense_Mutation_p.R384H|CDCA7L_uc010kul.2_Missense_Mutation_p.R372H|CDCA7L_uc003svf.3_Missense_Mutation_p.R417H	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	418					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						GCGGCCGTCACGCTTCCGACA	0.493													T	21942677	C	T	21942677	3	4	250	1	0	0	0	0	1	0	0	0	3091	536	19	1	119	1	CDCA7L	7	21942677	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	10485538	21942677	137195986	572	124500											
HOXA11	3207	broad.mit.edu	37	chr7	27224775	27224775	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatccattattgggctacCttgggctctccgcagtagcc	9	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:27224775C>A	uc003syx.2	-	1	61	c.-11G>T	c.(-13--9)AAGGT>AATGT		HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11						branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2						ATTGGGCTACCTTGGGCTCTC	0.493			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	27224775	C	A	27224775	1	1	250	1	0	0	0	0	0	0	0	0	7290	696	24	5		5	HOXA11	7	27224775	Translation_Start_Site	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5282098	27224775	131913888	573	124501											
TRIL	9865	broad.mit.edu	37	chr7	28997415	28997415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagccgtctgagctgcCccagacggtggaagtcgaag	15	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:28997415C>T	uc003szt.2	-	3	615	c.248G>A	c.(247-249)GGG>GAG	p.G83E	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	83	Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						TCTGAGCTGCCCCAGACGGTG	0.622													T	28997415	C	T	28997415	3	4	250	1	0	0	0	0	1	0	0	0	16482	623	22	4	2191	4	TRIL	7	28997415	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1772640	28997415	130141248	574	124502											
ELMO1	9844	broad.mit.edu	37	chr7	36927225	36927225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaaggcggttcaggcGttgctgtttgatcagctcta	11	10	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:36927225G>A	uc003tfk.1	-	18	1961	c.1654C>T	c.(1654-1656)CGC>TGC	p.R552C	ELMO1_uc003tfi.1_Missense_Mutation_p.R72C|ELMO1_uc003tfj.1_Missense_Mutation_p.R72C|ELMO1_uc011kbb.1_Intron|ELMO1_uc011kbc.1_Missense_Mutation_p.R456C|ELMO1_uc010kxg.1_Missense_Mutation_p.R552C	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	552					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						CGGTTCAGGCGTTGCTGTTTG	0.473													A	36927225	G	A	36927225	3	1	250	1	0	0	0	0	1	0	0	0	5065	1145	40	1	549	1	ELMO1	7	36927225	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7929810	36927225	122211438	575	124503											
GLI3	2737	broad.mit.edu	37	chr7	42006188	42006188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaggtcgcttctgcccGggagaagcgtcatgggccca	15	12	2	2	rs116840759		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:42006188G>A	uc011kbh.1	-	15	2574	c.2483C>T	c.(2482-2484)CCG>CTG	p.P828L	GLI3_uc011kbg.1_Missense_Mutation_p.P769L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	828					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCTTCTGCCCGGGAGAAGCGT	0.592									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42006188	G	A	42006188	3	1	250	1	0	0	0	0	1	0	0	0	6439	1116	39	1	2263	1	GLI3	7	42006188	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5078963	42006188	117132475	576	124504											
AEBP1	165	broad.mit.edu	37	chr7	44149840	44149840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgactactatgatggtgCgtggtgtgccgaggacgatg	17	7	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:44149840C>T	uc003tkb.2	+	11	1600	c.1295C>T	c.(1294-1296)GCG>GTG	p.A432V	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	432	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (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				0						TATGATGGTGCGTGGTGTGCC	0.632													T	44149840	C	T	44149840	3	4	250	1	0	0	0	0	1	0	0	0	349	768	27	1	1337	1	AEBP1	7	44149840	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2143652	44149840	114988823	577	124505											
GRB10	2887	broad.mit.edu	37	chr7	50686887	50686887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgggatttttaaagaactCgtattttgcgtaattcttcc	7	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:50686887C>T	uc003tpi.2	-	6	788	c.757G>A	c.(757-759)GAG>AAG	p.E253K	GRB10_uc003tph.3_Missense_Mutation_p.E195K|GRB10_uc003tpj.2_Missense_Mutation_p.E253K|GRB10_uc003tpk.2_Missense_Mutation_p.E253K|GRB10_uc010kzb.2_Missense_Mutation_p.E195K|GRB10_uc003tpl.2_Missense_Mutation_p.E247K|GRB10_uc003tpm.2_Missense_Mutation_p.E195K|GRB10_uc003tpn.2_Missense_Mutation_p.E195K	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	253					insulin receptor signaling pathway|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|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					TTAAAGAACTCGTATTTTGCG	0.423									Russell-Silver_syndrome				T	50686887	C	T	50686887	3	4	250	1	0	0	0	0	1	0	0	0	6756	893	31	1	1071	1	GRB10	7	50686887	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6537047	50686887	108451776	578	124506											
GRB10	2887	broad.mit.edu	37	chr7	50771608	50771608	+	Splice_Site	DEL	A	A	-													tgtctgctccaccttgtcctAaaaaaacaggaccgcagcag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			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)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome				-	50771608	A	-	50771608	8	5	250	1	0	1	0	1	0	0	1	0	6756	377	13	0		0	GRB10	7	50771608	Splice_Site	DEL	A	TCGA-HF-7132-01A-11D-2053-08	84721	50771608	108367055	579	124507											
ZNF680	340252	broad.mit.edu	37	chr7	63981713	63981713	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattagcaagagttgcaggCcagttaaaaacattgccaca	9	8	0	2	rs144844755		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:63981713C>T	uc003tta.2	-	4	1592	c.1419G>A	c.(1417-1419)TGG>TGA	p.W473*	ZNF680_uc010kzr.2_Nonsense_Mutation_p.W400*	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	473	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				GAGTTGCAGGCCAGTTAAAAA	0.373													T	63981713	C	T	63981713	4	4	250	1	0	0	0	0	0	1	0	0	18084	740	26	2	177	2	ZNF680	7	63981713	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	13210105	63981713	95156950	580	124508											
GUSB	2990	broad.mit.edu	37	chr7	65439613	65439613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggggtagtggctggtacGgaaagcgttggcaccaagcc	16	8	0	0	rs121918173		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:65439613G>A	uc003tun.2	-	7	1220	c.1144C>T	c.(1144-1146)CGT>TGT	p.R382C	GUSB_uc011kdt.1_Missense_Mutation_p.R236C	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	382			R -> C (in MPS7).|R -> H (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TGGCTGGTACGGAAAGCGTTG	0.592													A	65439613	G	A	65439613	3	1	250	1	0	0	0	0	1	0	0	0	6902	1116	39	1	835	1	GUSB	7	65439613	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1457900	65439613	93699050	581	124509											
FZD9	8326	broad.mit.edu	37	chr7	72849435	72849435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctgcctggggcctgccCgcgctcaagaccatcgtcat	12	15	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:72849435C>T	uc003tyb.2	+	1	1327	c.1098C>T	c.(1096-1098)CCC>CCT	p.P366P		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	366	Helical; Name=4; (Potential).				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)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGCCTGCCCGCGCTCAAGA	0.652													T	72849435	C	T	72849435	2	4	250	1	0	0	0	0	0	0	0	1	6137	639	23	1		1	FZD9	7	72849435	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7409822	72849435	86289228	582	124510											
PHTF2	57157	broad.mit.edu	37	chr7	77569558	77569558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataataagttttgtggttcGcgtgtctcttgtgtggattt	11	4	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:77569558G>A	uc003ugs.3	+	13	1805	c.1679G>A	c.(1678-1680)CGC>CAC	p.R560H	PHTF2_uc003ugp.2_Missense_Mutation_p.R522H|PHTF2_uc003ugq.3_Missense_Mutation_p.R522H|PHTF2_uc010ldv.2_Missense_Mutation_p.R522H|PHTF2_uc003ugt.3_Missense_Mutation_p.R526H|PHTF2_uc003ugu.3_Missense_Mutation_p.R522H|PHTF2_uc010ldw.1_Missense_Mutation_p.R342H	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTTGTGGTTCGCGTGTCTCTT	0.343													A	77569558	G	A	77569558	3	1	250	1	0	0	0	0	1	0	0	0	11863	1087	38	1	1677	1	PHTF2	7	77569558	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4720123	77569558	81569105	583	124511											
MAGI2	9863	broad.mit.edu	37	chr7	77885526	77885526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggtggccccagatgaaGccatagacacattgtcatca	10	11	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:77885526G>A	uc003ugx.2	-	10	2035	c.1781C>T	c.(1780-1782)GCT>GTT	p.A594V	MAGI2_uc003ugy.2_Missense_Mutation_p.A594V|MAGI2_uc010ldx.1_Missense_Mutation_p.A203V|MAGI2_uc010ldy.1_Missense_Mutation_p.A203V|MAGI2_uc011kgr.1_Missense_Mutation_p.A426V|MAGI2_uc011kgs.1_Missense_Mutation_p.A431V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	594						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCCAGATGAAGCCATAGACAC	0.542													A	77885526	G	A	77885526	3	1	250	1	0	0	0	0	1	0	0	0	9191	971	34	2	2638	2	MAGI2	7	77885526	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	315968	77885526	81253137	584	124512											
PCLO	27445	broad.mit.edu	37	chr7	82579564	82579564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcatcttcgtcatccGtttgtacaccactgtccact	7	14	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:82579564G>A	uc003uhx.2	-	6	10629	c.10340C>T	c.(10339-10341)ACG>ATG	p.T3447M	PCLO_uc003uhv.2_Missense_Mutation_p.T3447M|PCLO_uc010lec.2_Missense_Mutation_p.T412M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3378					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTCGTCATCCGTTTGTACACC	0.433													A	82579564	G	A	82579564	3	1	250	1	0	0	0	0	1	0	0	0	11583	1145	40	1	5185	1	PCLO	7	82579564	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4694038	82579564	76559099	585	124513											
SEMA3E	9723	broad.mit.edu	37	chr7	83119550	83119550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagatcaagaaatccaaaAgggctatgaaatattgatgt	10	4	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:83119550A>G	uc003uhy.1	-	2	622	c.156T>C	c.(154-156)CCT>CCC	p.P52P		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GAAATCCAAAAGGGCTATGAA	0.408													G	83119550	A	G	83119550	2	3	250	1	0	0	0	0	0	0	0	1	14028	59	3	3		3	SEMA3E	7	83119550	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	539986	83119550	76019113	586	124514											
SEMA3A	10371	broad.mit.edu	37	chr7	83739842	83739842	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatgaaaagcccccgttcCacaggcgtacaagtgagtct	11	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:83739842C>A	uc003uhz.2	-	4	712	c.397G>T	c.(397-399)GGA>TGA	p.G133*		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	133	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						GCCCCCGTTCCACAGGCGTAC	0.383													A	83739842	C	A	83739842	4	1	250	1	0	0	0	0	0	1	0	0	14024	603	21	5	1974	5	SEMA3A	7	83739842	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	620292	83739842	75398821	587	124515											
ABCB4	5244	broad.mit.edu	37	chr7	87060812	87060812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactccatcctcaaacccagCgatgacatctgcatttcgga	6	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:87060812C>T	uc003uiv.1	-	15	1877	c.1801G>A	c.(1801-1803)GCT>ACT	p.A601T	ABCB4_uc003uiw.1_Missense_Mutation_p.A601T|ABCB4_uc003uix.1_Missense_Mutation_p.A601T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	601	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCAAACCCAGCGATGACATCT	0.493													T	87060812	C	T	87060812	3	4	250	1	0	0	0	0	1	0	0	0	43	768	27	1	2115	1	ABCB4	7	87060812	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3320970	87060812	72077851	588	124516											
KRIT1	889	broad.mit.edu	37	chr7	91830633	91830633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacttacctgttttgtatgTactataaagctcattttatt	4	6	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:91830633T>C	uc003ulq.1	-	16	2301	c.2130A>G	c.(2128-2130)GTA>GTG	p.V710V	KRIT1_uc010lev.1_Silent_p.V467V|KRIT1_uc003ulr.1_Silent_p.V710V|KRIT1_uc003uls.1_Silent_p.V710V|KRIT1_uc003ult.1_Silent_p.V662V|KRIT1_uc003ulu.1_Silent_p.V710V|KRIT1_uc003ulv.1_Silent_p.V710V	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	710	Required for RAP1A binding.|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			ovary(2)|lung(1)	3	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)			GTTTTGTATGTACTATAAAGC	0.289									Familial_Cerebral_Cavernous_Angioma				C	91830633	T	C	91830633	2	2	250	1	0	0	0	0	0	0	0	1	8445	1625	57	3		3	KRIT1	7	91830633	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4769821	91830633	67308030	589	124517											
PPP1R9A	55607	broad.mit.edu	37	chr7	94539496	94539496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcacaggaatgcatatcGaactgagtttcaggcactga	9	10	2	2	rs140272671		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:94539496G>A	uc003unp.2	+	2	353	c.71G>A	c.(70-72)CGA>CAA	p.R24Q	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R24Q|PPP1R9A_uc011kif.1_Missense_Mutation_p.R24Q|PPP1R9A_uc003unq.2_Missense_Mutation_p.R24Q|PPP1R9A_uc011kig.1_Missense_Mutation_p.R24Q	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	24	Actin-binding.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AATGCATATCGAACTGAGTTT	0.473										HNSCC(28;0.073)			A	94539496	G	A	94539496	3	1	250	1	0	0	0	0	1	0	0	0	12378	1058	37	1	73	1	PPP1R9A	7	94539496	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2708863	94539496	64599167	590	124518											
LMTK2	22853	broad.mit.edu	37	chr7	97822648	97822648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagctcaattctaaagaCgcagcaaaagaagcaggctt	8	9	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:97822648C>T	uc003upd.1	+	11	3164	c.2871C>T	c.(2869-2871)GAC>GAT	p.D957D		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	957					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					ATTCTAAAGACGCAGCAAAAG	0.502													T	97822648	C	T	97822648	2	4	250	1	0	0	0	0	0	0	0	1	8859	535	19	1		1	LMTK2	7	97822648	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3283152	97822648	61316015	591	124519											
LMTK2	22853	broad.mit.edu	37	chr7	97822957	97822957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaccagccaccacgggCgatggcggccacagcggtct	13	15	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:97822957C>T	uc003upd.1	+	11	3473	c.3180C>T	c.(3178-3180)GGC>GGT	p.G1060G		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1060					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					CCACCACGGGCGATGGCGGCC	0.622													T	97822957	C	T	97822957	2	4	250	1	0	0	0	0	0	0	0	1	8859	755	27	1		1	LMTK2	7	97822957	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	309	97822957	61315706	592	124520											
TRRAP	8295	broad.mit.edu	37	chr7	98508867	98508867	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acggtcccttatatggtggaGagaatctcaaaaaattatgc	9	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:98508867G>T	uc003upp.2	+	17	2189	c.1980G>T	c.(1978-1980)GAG>GAT	p.E660D	TRRAP_uc011kis.1_Missense_Mutation_p.E660D|TRRAP_uc003upr.2_Missense_Mutation_p.E352D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	660				E -> D (in Ref. 2; AAD04629).	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			ATATGGTGGAGAGAATCTCAA	0.338													T	98508867	G	T	98508867	3	4	250	1	0	0	0	0	1	0	0	0	16598	933	33	5	2042	5	TRRAP	7	98508867	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	685910	98508867	60629796	593	124521											
MBLAC1	255374	broad.mit.edu	37	chr7	99725616	99725616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttgagcgagatggggacGaggattcgtggcaggcactg	18	6	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:99725616G>A	uc003utp.2	+	2	997	c.598G>A	c.(598-600)GAG>AAG	p.E200K		NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	200							hydrolase activity|metal ion binding			breast(1)	1						AGATGGGGACGAGGATTCGTG	0.701													A	99725616	G	A	99725616	3	1	250	1	0	0	0	0	1	0	0	0	9351	1059	37	1	600	1	MBLAC1	7	99725616	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1216749	99725616	59413047	594	124522											
MUC17	140453	broad.mit.edu	37	chr7	100683157	100683157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgcctgtcaaccacacGccagtggccagttctgaggc	11	13	2	1	rs140072363	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:100683157G>A	uc003uxp.1	+	3	8513	c.8460G>A	c.(8458-8460)ACG>ACA	p.T2820T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2820	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACCACACGCCAGTGGCCA	0.493													A	100683157	G	A	100683157	2	1	250	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100683157	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	957541	100683157	58455506	595	124523											
PLOD3	8985	broad.mit.edu	37	chr7	100855210	100855210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagtagaactcacactcGgggtcctgccgacacaggtc	11	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:100855210G>A	uc003uyd.2	-	11	1605	c.1149C>T	c.(1147-1149)CCC>CCT	p.P383P	PLOD3_uc010lhs.2_5'UTR	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	383					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACTCACACTCGGGGTCCTGCC	0.642													A	100855210	G	A	100855210	2	1	250	1	0	0	0	0	0	0	0	1	12103	1103	39	1		1	PLOD3	7	100855210	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	172053	100855210	58283453	596	124524											
PRKRIP1	79706	broad.mit.edu	37	chr7	102045105	102045105	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaattgctgcagaggagCagaccgcaaagcgccggaag	13	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:102045105C>T	uc003uzh.2	+	4	422	c.367C>T	c.(367-369)CAG>TAG	p.Q123*	PRKRIP1_uc003uzf.2_Nonsense_Mutation_p.Q72*|PRKRIP1_uc003uzg.2_Nonsense_Mutation_p.Q72*|PRKRIP1_uc011kkq.1_Nonsense_Mutation_p.Q66*|PRKRIP1_uc011kkr.1_Nonsense_Mutation_p.Q123*	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	123	Potential.|Required for RNA-binding (By similarity).					nucleolus				ovary(1)	1						TGCAGAGGAGCAGACCGCAAA	0.507											OREG0018229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	102045105	C	T	102045105	4	4	250	1	0	0	0	0	0	1	0	0	12525	711	25	2	381	2	PRKRIP1	7	102045105	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1189895	102045105	57093558	597	124525											
RELN	5649	broad.mit.edu	37	chr7	103155847	103155847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccagcggaagcgagtgGcaatctctttagcatcagga	12	11	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:103155847G>A	uc003vca.2	-	50	8064	c.7904C>T	c.(7903-7905)GCC>GTC	p.A2635V	RELN_uc010liz.2_Missense_Mutation_p.A2635V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2635					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGCGAGTGGCAATCTCTTT	0.502													A	103155847	G	A	103155847	3	1	250	1	0	0	0	0	1	0	0	0	13220	1203	42	2	2542	2	RELN	7	103155847	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1110742	103155847	55982816	598	124526											
RELN	5649	broad.mit.edu	37	chr7	103341413	103341413	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttggcatataacacgatGatgctggggtctgaataact	10	7	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:103341413G>A	uc003vca.2	-	9	1006	c.846C>T	c.(844-846)ATC>ATT	p.I282I	RELN_uc010liz.2_Silent_p.I282I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	282					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATAACACGATGATGCTGGGGT	0.328													A	103341413	G	A	103341413	2	1	250	1	0	0	0	0	0	0	0	1	13220	1280	45	4		4	RELN	7	103341413	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	185566	103341413	55797250	599	124527											
MLL5	55904	broad.mit.edu	37	chr7	104681416	104681416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatgagcatagtgatccCattgggggttgatacagcag	13	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:104681416C>A	uc003vcm.2	+	3	551	c.17C>A	c.(16-18)CCA>CAA	p.P6Q	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6Q|MLL5_uc003vcl.2_Missense_Mutation_p.P6Q|MLL5_uc010ljc.2_Missense_Mutation_p.P6Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	6					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						ATAGTGATCCCATTGGGGGTT	0.428													A	104681416	C	A	104681416	3	1	250	1	0	0	0	0	1	0	0	0	9624	594	21	5	19	5	MLL5	7	104681416	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1340003	104681416	54457247	600	124528											
LAMB1	3912	broad.mit.edu	37	chr7	107575868	107575868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaccttaccatttcggCagcggctgaaaggtctaggc	10	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:107575868C>T	uc003vew.2	-	27	4515	c.4180G>A	c.(4180-4182)GCC>ACC	p.A1394T	LAMB1_uc003vev.2_Missense_Mutation_p.A1418T	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1394	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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCATTTCGGCAGCGGCTGAA	0.413													T	107575868	C	T	107575868	3	4	250	1	0	0	0	0	1	0	0	0	8610	710	25	2	1212	2	LAMB1	7	107575868	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2894452	107575868	51562795	601	124529											
LAMB1	3912	broad.mit.edu	37	chr7	107615466	107615466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgtcctgtcaccagacGcttgcagtagcagtgacctg	11	12	1	2	rs139568495	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:107615466G>A	uc003vew.2	-	12	1782	c.1447C>T	c.(1447-1449)CGT>TGT	p.R483C	LAMB1_uc003vev.2_Missense_Mutation_p.R507C|LAMB1_uc003vex.2_Missense_Mutation_p.R483C|LAMB1_uc010ljn.1_Missense_Mutation_p.R569C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	483	Laminin EGF-like 4.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACCAGACGCTTGCAGTAG	0.468													A	107615466	G	A	107615466	3	1	250	1	0	0	0	0	1	0	0	0	8610	1087	38	1	4005	1	LAMB1	7	107615466	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	39598	107615466	51523197	602	124530											
LRRN3	54674	broad.mit.edu	37	chr7	110763830	110763830	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgcatttttcagactcccCaagctggaatcactcatgct	6	12	3	1	rs147135549		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:110763830C>A	uc003vft.3	+	4	2048	c.1002C>A	c.(1000-1002)CCC>CCA	p.P334P	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.P334P|LRRN3_uc003vfs.3_Silent_p.P334P	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	334	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		TCAGACTCCCCAAGCTGGAAT	0.433													A	110763830	C	A	110763830	2	1	250	1	0	0	0	0	0	0	0	1	9036	581	21	5		5	LRRN3	7	110763830	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3148364	110763830	48374833	603	124531											
IFRD1	3475	broad.mit.edu	37	chr7	112112350	112112350	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgggtaaaaaaacacaCctatgacacctttaaggagg	9	8	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:112112350C>G	uc003vgh.2	+	11	1561	c.1118C>G	c.(1117-1119)ACC>AGC	p.T373S	IFRD1_uc011kmn.1_Missense_Mutation_p.T323S|IFRD1_uc003vgj.2_Missense_Mutation_p.T373S|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.T323S|IFRD1_uc003vgk.2_Missense_Mutation_p.T90S	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	373					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						AAAAAACACACCTATGACACC	0.398													G	112112350	C	G	112112350	3	3	250	1	0	0	0	0	1	0	0	0	7553	507	18	5	1156	5	IFRD1	7	112112350	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1348520	112112350	47026313	604	124532											
IFRD1	3475	broad.mit.edu	37	chr7	112112914	112112914	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatttctcgtttcgaaAgggtaggttttgtttttatt	10	3	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:112112914A>C	uc003vgh.2	+	12	1707	c.1264A>C	c.(1264-1266)AGG>CGG	p.R422R	IFRD1_uc011kmn.1_Silent_p.R372R|IFRD1_uc003vgj.2_Silent_p.R422R|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Silent_p.R372R|IFRD1_uc003vgk.2_Silent_p.R139R	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	422					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						TCGTTTCGAAAGGGTAGGTTT	0.373													C	112112914	A	C	112112914	2	2	250	1	0	0	0	0	0	0	0	1	7553	63	3	5		5	IFRD1	7	112112914	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	564	112112914	47025749	605	124533											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518738	113518738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaatacctaaacgtgattcCttttcaaaatcattgtcata	3	9	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:113518738C>A	uc010ljy.1	-	4	2440	c.2409G>T	c.(2407-2409)AAG>AAT	p.K803N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	803					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AACGTGATTCCTTTTCAAAAT	0.368													A	113518738	C	A	113518738	3	1	250	1	0	0	0	0	1	0	0	0	12371	680	24	5	963	5	PPP1R3A	7	113518738	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1405824	113518738	45619925	606	124534											
CFTR	1080	broad.mit.edu	37	chr7	117232511	117232511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccccacgcttcaggcaCgaaggaggcagtctgtcctg	13	14	2	0	rs121908810		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:117232511C>T	uc003vjd.2	+	14	2422	c.2290C>T	c.(2290-2292)CGA>TGA	p.R764*	CFTR_uc011knq.1_Nonsense_Mutation_p.R170*	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	764	Cytoplasmic (Potential).				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			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTTCAGGCACGAAGGAGGCA	0.532									Cystic_Fibrosis				T	117232511	C	T	117232511	4	4	250	1	0	0	0	0	0	1	0	0	3294	528	19	1	2344	1	CFTR	7	117232511	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3713773	117232511	41906152	607	124535											
KCND2	3751	broad.mit.edu	37	chr7	119915075	119915075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcccggaaatcatcgGcgactgctgttatgaggagt	11	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:119915075G>A	uc003vjj.1	+	1	1354	c.389G>A	c.(388-390)GGC>GAC	p.G130D		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	130	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GAAATCATCGGCGACTGCTGT	0.587													A	119915075	G	A	119915075	3	1	250	1	0	0	0	0	1	0	0	0	8019	1203	42	2	391	2	KCND2	7	119915075	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2682564	119915075	39223588	608	124536											
KCND2	3751	broad.mit.edu	37	chr7	120373105	120373105	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcaacgagcagacaaaCgaagggcacaaaaggtgcgt	12	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:120373105C>T	uc003vjj.1	+	2	2229	c.1264C>T	c.(1264-1266)CGA>TGA	p.R422*		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	422	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AGCAGACAAACGAAGGGCACA	0.438													T	120373105	C	T	120373105	4	4	250	1	0	0	0	0	0	1	0	0	8019	528	19	1	1270	1	KCND2	7	120373105	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	458030	120373105	38765558	609	124537											
IQUB	154865	broad.mit.edu	37	chr7	123120018	123120018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgtaagttcttcttgcCgccagactagaggaataaca	9	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:123120018C>T	uc003vkn.2	-	8	1818	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	IQUB_uc003vko.2_Missense_Mutation_p.R414Q|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Missense_Mutation_p.R414Q	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	414										ovary(3)|large_intestine(1)	4						TTCTTCTTGCCGCCAGACTAG	0.363													T	123120018	C	T	123120018	3	4	250	1	0	0	0	0	1	0	0	0	7820	652	23	1	1158	1	IQUB	7	123120018	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2746913	123120018	36018645	610	124538											
LMOD2	442721	broad.mit.edu	37	chr7	123302716	123302716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataaacagaggcaaaaacGtttgcaggagcaaaaacagc	11	7	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:123302716G>A	uc003vky.2	+	2	1233	c.1076G>A	c.(1075-1077)CGT>CAT	p.R359H		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	359						cytoskeleton	actin binding|tropomyosin binding				0						AGGCAAAAACGTTTGCAGGAG	0.463													A	123302716	G	A	123302716	3	1	250	1	0	0	0	0	1	0	0	0	8857	1145	40	1	1082	1	LMOD2	7	123302716	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	182698	123302716	35835947	611	124539											
POT1	25913	broad.mit.edu	37	chr7	124469343	124469343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatccacgatgttttaTcaaccagggaatttagattt	8	6	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:124469343T>C	uc003vlm.2	-	16	2160	c.1559A>G	c.(1558-1560)GAT>GGT	p.D520G	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.D389G|POT1_uc003vln.2_Intron	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	520					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			central_nervous_system(1)	1						CGATGTTTTATCAACCAGGGA	0.303													C	124469343	T	C	124469343	3	2	250	1	0	0	0	0	1	0	0	0	12260	1435	50	3	361	3	POT1	7	124469343	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1166627	124469343	34669320	612	124540											
IMPDH1	3614	broad.mit.edu	37	chr7	128038487	128038487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagactatgacgtcgacgCccgcctgggtgagcaggtcc	13	14	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:128038487C>T	uc011kol.1	-	7	906	c.800G>A	c.(799-801)GGC>GAC	p.G267D	IMPDH1_uc011kom.1_Missense_Mutation_p.G262D|IMPDH1_uc003vmt.2_Missense_Mutation_p.G242D|IMPDH1_uc003vmu.2_Missense_Mutation_p.G352D|IMPDH1_uc003vmw.2_Missense_Mutation_p.G342D|IMPDH1_uc011kon.1_Missense_Mutation_p.G319D|IMPDH1_uc003vmv.2_Missense_Mutation_p.G316D|IMPDH1_uc003vmx.2_Missense_Mutation_p.G275D|IMPDH1_uc003vmy.2_Missense_Mutation_p.G283D	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	267	NAD (By similarity).				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GACGTCGACGCCCGCCTGGGT	0.607											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128038487	C	T	128038487	3	4	250	1	0	0	0	0	1	0	0	0	7726	739	26	2	776	2	IMPDH1	7	128038487	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3569144	128038487	31100176	613	124541											
NRF1	4899	broad.mit.edu	37	chr7	129350368	129350368	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccatcacagactgtagTccagacttttagtaaccctg	7	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:129350368T>A	uc003voz.2	+	7	1037	c.920T>A	c.(919-921)GTC>GAC	p.V307D	NRF1_uc003vpa.2_Missense_Mutation_p.V307D|NRF1_uc011kpa.1_Missense_Mutation_p.V146D|NRF1_uc003vpb.2_Missense_Mutation_p.V307D	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	307	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CAGACTGTAGTCCAGACTTTT	0.493													A	129350368	T	A	129350368	3	1	250	1	0	0	0	0	1	0	0	0	10646	1667	58	5	942	5	NRF1	7	129350368	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1311881	129350368	29788295	614	124542											
CHRM2	1129	broad.mit.edu	37	chr7	136700421	136700421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagcccccagggatcctgTgactgaaaactgtgttcagg	11	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:136700421T>C	uc003vtf.1	+	4	1432	c.809T>C	c.(808-810)GTG>GCG	p.V270A	CHRM2_uc003vtg.1_Missense_Mutation_p.V270A|CHRM2_uc003vtj.1_Missense_Mutation_p.V270A|CHRM2_uc003vtk.1_Missense_Mutation_p.V270A|CHRM2_uc003vtl.1_Missense_Mutation_p.V270A|CHRM2_uc003vtm.1_Missense_Mutation_p.V270A|CHRM2_uc003vti.1_Missense_Mutation_p.V270A|CHRM2_uc003vto.1_Missense_Mutation_p.V270A|CHRM2_uc003vtn.1_Missense_Mutation_p.V270A|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	270	Cytoplasmic (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	AGGGATCCTGTGACTGAAAAC	0.488													C	136700421	T	C	136700421	3	2	250	1	0	0	0	0	1	0	0	0	3377	1696	59	3	811	3	CHRM2	7	136700421	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	7350053	136700421	22438242	615	124543											
CLCN1	1180	broad.mit.edu	37	chr7	143013362	143013362	+	Frame_Shift_Del	DEL	C	C	-													caaagctggtggggtagtgaCccccagtaccagtatatgcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:143013361_143013361AC>A	uc003wcr.1	+	0	143	c.56_56AC>A	c.(55-57)gacfs	p.D19fs	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	19					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)					TGGGGTAGTGACCCCCAGTAC	0.642													-	143013362	C	-	143013362	7	5	250	1	0	1	0	1	0	0	0	0	3462	506	18	0	59	0	CLCN1	7	143013362	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	6312941	143013362	16125301	616	124544											
ARHGEF5	7984	broad.mit.edu	37	chr7	144075858	144075858	+	Frame_Shift_Del	DEL	C	C	-													actcttctcttccaaagactCcccccaggtacagtgccttc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:144075857_144075857TC>T	uc003wel.3	+	13	4652	c.4534_4534TC>T	c.(4534-4536)tccfs	p.S1512fs	ARHGEF5_uc003wem.3_Frame_Shift_Del_p.S313fs	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1512					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAAAGACTCCCCCCAGGT	0.557													-	144075858	C	-	144075858	7	5	250	1	0	1	0	1	0	0	0	0	909	855	30	0	4585	0	ARHGEF5	7	144075858	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	1062496	144075858	15062805	617	124545											
CUL1	8454	broad.mit.edu	37	chr7	148427287	148427288	+	Frame_Shift_Del	DEL	AG	AG	-													accagatctgggacgacctcAgagccggcatccagcaggtg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:148427286_148427287CAG>C	uc010lpg.3	+	1	598_599	c.72_73CAG>C	c.(70-75)ctcagafs	p.L24fs	CUL1_uc003wey.3_Frame_Shift_Del_p.L24fs|CUL1_uc003wez.3_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	24					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|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	SCF ubiquitin ligase complex|cytosol|nucleoplasm	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)			GGGACGACCTCAGAGCCGGCAT	0.564													-	148427288	AG	-	148427287	7	5	250	1	0	1	0	1	0	0	0	0	4054	180	7	0	75	0	CUL1	7	148427287	Frame_Shift_Del	DEL	AG	TCGA-HF-7132-01A-11D-2053-08	4351429	148427287	10711376	618	124546											
SSPO	23145	broad.mit.edu	37	chr7	149512418	149512418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaggacgggctgtgcGtgcccccagcccactgccgc	12	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:149512418G>A	uc010lpk.2	+	76	10738	c.10738G>A	c.(10738-10740)GTG>ATG	p.V3580M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3580					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCTGTGCGTGCCCCCAGC	0.711													A	149512418	G	A	149512418	3	1	250	1	0	0	0	0	1	0	0	0	15188	1145	40	1	11030	1	SSPO	7	149512418	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1085131	149512418	9626245	619	124547											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	250	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-HF-7132-01A-11D-2053-08	2324461	151836879	7301784	620	124548											
DPP6	1804	broad.mit.edu	37	chr7	154585835	154585835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaccagcaccaaggtcGccgtgacctggctgaaccgg	14	15	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:154585835G>A	uc003wlk.2	+	11	1312	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	DPP6_uc003wli.2_Missense_Mutation_p.A331T|DPP6_uc003wlm.2_Missense_Mutation_p.A333T|DPP6_uc011kvq.1_Missense_Mutation_p.A288T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	395	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			CACCAAGGTCGCCGTGACCTG	0.637													A	154585835	G	A	154585835	3	1	250	1	0	0	0	0	1	0	0	0	4730	1087	38	1	1341	1	DPP6	7	154585835	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2748956	154585835	4552828	621	124549											
HTR5A	3361	broad.mit.edu	37	chr7	154862987	154862987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacgtgctttgctgcacGgccagcatctggaacgtgac	13	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:154862987G>A	uc003wlu.1	+	1	442	c.378G>A	c.(376-378)ACG>ACA	p.T126T	uc011kvt.1_Silent_p.A9A|uc003wlt.2_Silent_p.A9A	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	126	Helical; Name=3; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	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)		TTTGCTGCACGGCCAGCATCT	0.652													A	154862987	G	A	154862987	2	1	250	1	0	0	0	0	0	0	0	1	7450	1103	39	1		1	HTR5A	7	154862987	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	277152	154862987	4275676	622	124550											
LMBR1	64327	broad.mit.edu	37	chr7	156518499	156518499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcccacaaaaccaaaCgtagaaagagaggcatttcc	8	12	0	2	rs140247020	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:156518499C>T	uc003wmw.3	-	13	1241	c.1026G>A	c.(1024-1026)ACG>ACA	p.T342T	LMBR1_uc003wmv.3_Silent_p.T190T|LMBR1_uc003wmx.3_Silent_p.T190T|LMBR1_uc010lqn.2_Silent_p.T383T|LMBR1_uc011kvx.1_Silent_p.T321T	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	342	Helical; (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CAAAACCAAACGTAGAAAGAG	0.403													T	156518499	C	T	156518499	2	4	250	1	0	0	0	0	0	0	0	1	8840	523	19	1		1	LMBR1	7	156518499	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1655512	156518499	2620164	623	124551											
NOM1	64434	broad.mit.edu	37	chr7	156743059	156743059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctccgtgccgctgAgctttgcacgcgacggtctt	13	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:156743059A>G	uc003wmy.2	+	1	643	c.628A>G	c.(628-630)AGC>GGC	p.S210G		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	210	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGTGCCGCTGAGCTTTGCACG	0.582													G	156743059	A	G	156743059	3	3	250	1	0	0	0	0	1	0	0	0	10530	304	11	3	630	3	NOM1	7	156743059	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	224560	156743059	2395604	624	124552											
ESYT2	57488	broad.mit.edu	37	chr7	158560419	158560419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgattcgattgggaagcaCcagatagtttgatattatat	11	4	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr7:158560419C>T	uc003wob.1	-	8	1060	c.994G>A	c.(994-996)GTG>ATG	p.V332M	ESYT2_uc003woc.1_Missense_Mutation_p.V156M|ESYT2_uc003wod.1_Missense_Mutation_p.V332M	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	360						integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TTGGGAAGCACCAGATAGTTT	0.423													T	158560419	C	T	158560419	3	4	250	1	0	0	0	0	1	0	0	0	5265	507	18	4	1747	4	ESYT2	7	158560419	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1817360	158560419	578244	625	124553											
ZNF596	169270	broad.mit.edu	37	chr8	194678	194678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacatatctatcagaagGgcacgtccaccatcagcaca	6	13	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:194678G>T	uc003wot.2	+	5	571	c.283G>T	c.(283-285)GGC>TGC	p.G95C	ZNF596_uc003wou.2_5'UTR|ZNF596_uc003wov.2_Missense_Mutation_p.G95C|ZNF596_uc003wow.2_Missense_Mutation_p.G95C	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CTATCAGAAGGGCACGTCCAC	0.358													T	194678	G	T	194678	3	4	250	1	0	0	0	0	1	0	0	0	18023	1232	43	5	297	5	ZNF596	8	194678	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		194678	146169344	626	124554											
DLGAP2	9228	broad.mit.edu	37	chr8	1497079	1497079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgccggtggtgctgggcGaccacgtgtccagcagcacc	15	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:1497079G>A	uc003wpl.2	+	2	317	c.220G>A	c.(220-222)GAC>AAC	p.D74N	DLGAP2_uc003wpm.2_Missense_Mutation_p.D74N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	153					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		GGTGCTGGGCGACCACGTGTC	0.716													A	1497079	G	A	1497079	3	1	250	1	0	0	0	0	1	0	0	0	4560	1058	37	1	222	1	DLGAP2	8	1497079	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1302401	1497079	144866943	627	124555											
ARHGEF10	9639	broad.mit.edu	37	chr8	1833846	1833846	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggaagccatcttgaccccGatgcccgagggtttatctca	10	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:1833846G>A	uc003wpr.2	+	11	1333	c.1155G>A	c.(1153-1155)CCG>CCA	p.P385P	ARHGEF10_uc003wpq.1_Silent_p.P410P|ARHGEF10_uc003wps.2_Silent_p.P347P|ARHGEF10_uc003wpt.2_Silent_p.P261P|ARHGEF10_uc003wpv.2_Silent_p.P118P|ARHGEF10_uc010lre.2_Silent_p.P65P	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	410					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			large_intestine(1)	1		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)		TCTTGACCCCGATGCCCGAGG	0.443													A	1833846	G	A	1833846	2	1	250	1	0	0	0	0	0	0	0	1	894	1045	37	1		1	ARHGEF10	8	1833846	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	336767	1833846	144530176	628	124556											
CSMD1	64478	broad.mit.edu	37	chr8	3245031	3245031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaccgtcgcagctgggcaAggcgtggttccactggtggt	15	12	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:3245031A>C	uc011kwk.1	-	18	3160	c.2770T>G	c.(2770-2772)TTG>GTG	p.L924V	CSMD1_uc011kwj.1_Missense_Mutation_p.L316V|CSMD1_uc003wqe.2_Missense_Mutation_p.L80V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	924	Extracellular (Potential).|Sushi 5.					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)		CAGCTGGGCAAGGCGTGGTTC	0.577													C	3245031	A	C	3245031	3	2	250	1	0	0	0	0	1	0	0	0	3944	69	3	5	8139	5	CSMD1	8	3245031	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1411185	3245031	143118991	629	124557											
DEFA5	1670	broad.mit.edu	37	chr8	6914177	6914177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactcagcctgggcctgcaGggccaccaggagaatggcag	15	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:6914177G>T	uc003wra.1	-	1	83	c.43C>A	c.(43-45)CTG>ATG	p.L15M		NM_021010	NP_066290	Q01523	DEF5_HUMAN	defensin, alpha 5 preproprotein	15					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGGGCCTGCAGGGCCACCAGG	0.587													T	6914177	G	T	6914177	3	4	250	1	0	0	0	0	1	0	0	0	4392	991	35	5	249	5	DEFA5	8	6914177	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3669146	6914177	139449845	630	124558											
XKR6	286046	broad.mit.edu	37	chr8	11058321	11058321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggaagctcaggctctgCaccagcagcgacggcaccag	13	15	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:11058321C>T	uc003wtk.1	-	1	555	c.528G>A	c.(526-528)GTG>GTA	p.V176V		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	176	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCAGGCTCTGCACCAGCAGCG	0.697													T	11058321	C	T	11058321	2	4	250	1	0	0	0	0	0	0	0	1	17432	697	25	2		2	XKR6	8	11058321	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4144144	11058321	135305701	631	124559											
XKR6	286046	broad.mit.edu	37	chr8	11058806	11058806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggttgtgcagctgagCgaagcccacccccacgccac	11	17	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:11058806C>T	uc003wtk.1	-	1	70	c.43G>A	c.(43-45)GCT>ACT	p.A15T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	15	Gly-rich.					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGCAGCTGAGCGAAGCCCACC	0.468													T	11058806	C	T	11058806	3	4	250	1	0	0	0	0	1	0	0	0	17432	768	27	1	1894	1	XKR6	8	11058806	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	485	11058806	135305216	632	124560											
C8orf79	57604	broad.mit.edu	37	chr8	12878931	12878931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattaggaaaatcgtttcGttcctggtttttctccagat	7	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:12878931G>A	uc010lsq.2	+	5	1235	c.743G>A	c.(742-744)CGT>CAT	p.R248H	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.R161H|C8orf79_uc010lsr.2_Missense_Mutation_p.R122H	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	248							methyltransferase activity				0						AAATCGTTTCGTTCCTGGTTT	0.413													A	12878931	G	A	12878931	3	1	250	1	0	0	0	0	1	0	0	0	2438	1145	40	1	753	1	C8orf79	8	12878931	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1820125	12878931	133485091	633	124561											
CNOT7	29883	broad.mit.edu	37	chr8	17088329	17088329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaatgaccacaatatttgGcatcatcaatatgatcttca	4	9	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:17088329G>A	uc003wxf.1	-	7	926	c.758C>T	c.(757-759)GCC>GTC	p.A253V	CNOT7_uc003wxg.1_Missense_Mutation_p.A253V	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	253					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)	1				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		ACAATATTTGGCATCATCAAT	0.338													A	17088329	G	A	17088329	3	1	250	1	0	0	0	0	1	0	0	0	3624	1203	42	2	103	2	CNOT7	8	17088329	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4209398	17088329	129275693	634	124562											
LZTS1	11178	broad.mit.edu	37	chr8	20107520	20107520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgctccagctcccGctgcagggcagggacgtcct	13	18	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:20107520G>A	uc003wzr.2	-	3	1615	c.1504C>T	c.(1504-1506)CGG>TGG	p.R502W	LZTS1_uc010ltg.1_Intron	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	502					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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCAGCTCCCGCTGCAGGGCA	0.721													A	20107520	G	A	20107520	3	1	250	1	0	0	0	0	1	0	0	0	9138	1086	38	1	290	1	LZTS1	8	20107520	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3019191	20107520	126256502	635	124563											
XPO7	23039	broad.mit.edu	37	chr8	21847891	21847891	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctagtgaagcttagtgcGgtacagttcatgctgaacaa	11	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:21847891G>T	uc003xaa.3	+	17	2007	c.1905G>T	c.(1903-1905)GCG>GCT	p.A635A	XPO7_uc010lti.2_Silent_p.A644A|XPO7_uc010ltk.2_Silent_p.A636A	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	635					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCTTAGTGCGGTACAGTTCA	0.458													T	21847891	G	T	21847891	2	4	250	1	0	0	0	0	0	0	0	1	17446	1103	39	5		5	XPO7	8	21847891	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1740371	21847891	124516131	636	124564											
REEP4	80346	broad.mit.edu	37	chr8	21998164	21998164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaatgttcttggtcttcaCagccttataggaagcataag	9	8	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:21998164C>T	uc003xau.1	-	2	532	c.79G>A	c.(79-81)GTG>ATG	p.V27M	REEP4_uc010ltt.1_Missense_Mutation_p.V27M|REEP4_uc011kyz.1_Missense_Mutation_p.V27M	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	27						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TTGGTCTTCACAGCCTTATAG	0.552													T	21998164	C	T	21998164	3	4	250	1	0	0	0	0	1	0	0	0	13207	478	17	4	722	4	REEP4	8	21998164	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	150273	21998164	124365858	637	124565											
SFTPC	6440	broad.mit.edu	37	chr8	22020095	22020095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgtgtcaggactactcCgcagctccccggggccgatt	11	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:22020095C>T	uc003xax.3	+	2	209	c.51C>T	c.(49-51)TCC>TCT	p.S17S	SFTPC_uc003xaw.3_Silent_p.S66S|SFTPC_uc011kza.1_Silent_p.S17S|SFTPC_uc003xaz.2_Silent_p.S17S|SFTPC_uc003xay.3_Silent_p.S17S	NM_003018	NP_003009	P11686	PSPC_HUMAN	surfactant protein C precursor	17					respiratory gaseous exchange	extracellular space					0				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGACTACTCCGCAGCTCCCC	0.607													T	22020095	C	T	22020095	2	4	250	1	0	0	0	0	0	0	0	1	14192	639	23	1		1	SFTPC	8	22020095	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	21931	22020095	124343927	638	124566											
CDCA2	157313	broad.mit.edu	37	chr8	25343307	25343307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacttcaagtatcatttgcCgttctcagttctcctaataa	4	12	4	0	rs138630584		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:25343307C>T	uc003xep.1	+	11	1877	c.1398C>T	c.(1396-1398)GCC>GCT	p.A466A	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.A466A|CDCA2_uc003xeq.1_Silent_p.A451A|CDCA2_uc003xer.1_Silent_p.A129A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	466					cell division|mitosis	cytoplasm|nucleus					0		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)		TATCATTTGCCGTTCTCAGTT	0.308													T	25343307	C	T	25343307	2	4	250	1	0	0	0	0	0	0	0	1	3086	639	23	1		1	CDCA2	8	25343307	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3323212	25343307	121020715	639	124567											
PTK2B	2185	broad.mit.edu	37	chr8	27279842	27279842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggaacgactacatgcagCgctacgccagcaaggtcagc	11	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:27279842C>T	uc003xfn.1	+	10	1301	c.493C>T	c.(493-495)CGC>TGC	p.R165C	PTK2B_uc003xfo.1_Missense_Mutation_p.R165C|PTK2B_uc003xfp.1_Missense_Mutation_p.R165C|PTK2B_uc003xfq.1_Missense_Mutation_p.R165C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	165	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTACATGCAGCGCTACGCCAG	0.627													T	27279842	C	T	27279842	3	4	250	1	0	0	0	0	1	0	0	0	12763	768	27	1	507	1	PTK2B	8	27279842	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1936535	27279842	119084180	640	124568											
ZNF395	55893	broad.mit.edu	37	chr8	28210809	28210810	+	Frame_Shift_Ins	INS	-	-	G													ttggggctggcctgggggtgINSggggggcgagggggtggaga					rs145352684	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:28210808_28210809T>TG	uc003xgq.3	-	4	788_789	c.700_701A>CA	c.(700-702)cacfs	p.H234fs	ZNF395_uc003xgt.3_Frame_Shift_Ins_p.H234fs|ZNF395_uc003xgr.3_Frame_Shift_Ins_p.H234fs|ZNF395_uc003xgs.3_Frame_Shift_Ins_p.H234fs	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	234					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.H234fs*43(2)|p.H234fs*19(2)|p.H234P(2)		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)		GGCCTGGGGGTGGGGGGGCGAG	0.609													G	28210810	-	G	28210809	7	5	250	1	0	1	1	0	0	0	0	0	17878	1348	47	0	865	0	ZNF395	8	28210809	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	930967	28210809	118153213	641	124569											
WRN	7486	broad.mit.edu	37	chr8	30916670	30916670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttactaaactcaaggCatgtgttcggaagagtgttt	10	5	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:30916670C>A	uc003xio.3	+	3	886	c.98C>A	c.(97-99)GCA>GAA	p.A33E		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	33	Interaction with WRNIP1 (By similarity).				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAACTCAAGGCATGTGTTCGG	0.353			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30916670	C	A	30916670	3	1	250	1	0	0	0	0	1	0	0	0	17399	724	25	5	104	5	WRN	8	30916670	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2705861	30916670	115447352	642	124570											
WRN	7486	broad.mit.edu	37	chr8	30969281	30969281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaaaaacagggaatatcCttcaggatctgcagccattt	10	9	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:30969281C>A	uc003xio.3	+	19	3027	c.2239C>A	c.(2239-2241)CTT>ATT	p.L747I	WRN_uc010lvk.2_Missense_Mutation_p.L214I	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	747					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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGGGAATATCCTTCAGGATCT	0.343			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30969281	C	A	30969281	3	1	250	1	0	0	0	0	1	0	0	0	17399	681	24	5	2309	5	WRN	8	30969281	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	52611	30969281	115394741	643	124571											
BAG4	9530	broad.mit.edu	37	chr8	38066756	38066756	+	Frame_Shift_Del	DEL	C	C	-													gcagtggctctccccagtcaCccccttcacccccagtccag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:38066755_38066755AC>A	uc003xky.2	+	3	1140	c.858_858AC>A	c.(856-858)tcafs	p.S286fs	BAG4_uc003xkz.2_Frame_Shift_Del_p.S250fs	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	286					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)				CTCCCCAGTCACCCCCTTCAC	0.502													-	38066756	C	-	38066756	7	5	250	1	0	1	0	1	0	0	0	0	1289	507	18	0	873	0	BAG4	8	38066756	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	7097475	38066756	108297266	644	124572											
LETM2	137994	broad.mit.edu	37	chr8	38261959	38261959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctccttcccttttgctcCtgtcccgcaccttctacctg	4	20	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:38261959C>A	uc003xlm.1	+	8	1183	c.1012C>A	c.(1012-1014)CTG>ATG	p.L338M	LETM2_uc011lbn.1_Missense_Mutation_p.L182M|LETM2_uc003xll.1_Missense_Mutation_p.L290M|LETM2_uc003xln.1_Missense_Mutation_p.L182M|LETM2_uc003xlo.1_Missense_Mutation_p.L182M	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	385	Poly-Leu.|LETM1.|Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCTTTTGCTCCTGTCCCGCAC	0.567													A	38261959	C	A	38261959	3	1	250	1	0	0	0	0	1	0	0	0	8735	680	24	5	886	5	LETM2	8	38261959	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	195203	38261959	108102063	645	124573											
IKBKB	3551	broad.mit.edu	37	chr8	42179608	42179608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagtcaggaaatggtacGgctgctgcttcaggcaattc	12	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:42179608G>A	uc003xow.1	+	18	1952	c.1775G>A	c.(1774-1776)CGG>CAG	p.R592Q	IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.R369Q|IKBKB_uc003xox.1_Missense_Mutation_p.R313Q|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.R590Q|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.R533Q	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	592					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(3)|ovary(2)|lung(1)|skin(1)	7	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)	GAAATGGTACGGCTGCTGCTT	0.537													A	42179608	G	A	42179608	3	1	250	1	0	0	0	0	1	0	0	0	7611	1116	39	1	1841	1	IKBKB	8	42179608	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3917649	42179608	104184414	646	124574											
CHRNB3	1142	broad.mit.edu	37	chr8	42586933	42586933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacgtcacgtttttcccGttcgaccgacagaactgctc	9	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:42586933G>A	uc003xpi.1	+	5	611	c.483G>A	c.(481-483)CCG>CCA	p.P161P		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	161	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	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)			CGTTTTTCCCGTTCGACCGAC	0.488													A	42586933	G	A	42586933	2	1	250	1	0	0	0	0	0	0	0	1	3392	1132	40	1		1	CHRNB3	8	42586933	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	407325	42586933	103777089	647	124575											
PRKDC	5591	broad.mit.edu	37	chr8	48689518	48689519	+	Frame_Shift_Ins	INS	-	-	T													cttgaatccatgaccctcctINStttttcagcattttctgttc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:48689517_48689518C>CT	uc003xqi.3	-	85	12123_12124	c.12066_12067G>AG	c.(12064-12069)aaaggafs	p.K4022fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.K3991fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	4023					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)				CATGACCCTCCTTTTTTCAGCA	0.361								Non-homologous end-joining					T	48689519	-	T	48689518	7	5	250	1	0	1	1	0	0	0	0	0	12521	1606	56	0	325	0	PRKDC	8	48689518	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	6102585	48689518	97674504	648	124576											
PRKDC	5591	broad.mit.edu	37	chr8	48743175	48743175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaactgacctgggccacGgcctgtaacggggtgatgag	14	10	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:48743175G>A	uc003xqi.2	-	62	8445	c.8388C>T	c.(8386-8388)GCC>GCT	p.A2796A	PRKDC_uc003xqj.2_Silent_p.A2796A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2796	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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTGGGCCACGGCCTGTAACG	0.532								NHEJ					A	48743175	G	A	48743175	2	1	250	1	0	0	0	0	0	0	0	1	12521	1103	39	1		1	PRKDC	8	48743175	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	53657	48743175	97620847	649	124577											
SNTG1	54212	broad.mit.edu	37	chr8	51449300	51449300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggagaagcgatggtgCgacctcagactgatccctct	14	10	2	3	rs35419988		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:51449300C>T	uc010lxy.1	+	12	983	c.612C>T	c.(610-612)TGC>TGT	p.C204C	SNTG1_uc003xqs.1_Silent_p.C204C|SNTG1_uc010lxz.1_Silent_p.C204C|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	204					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		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)				AGCGATGGTGCGACCTCAGAC	0.473													T	51449300	C	T	51449300	2	4	250	1	0	0	0	0	0	0	0	1	14874	776	27	1		1	SNTG1	8	51449300	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2706125	51449300	94914722	650	124578											
PXDNL	137902	broad.mit.edu	37	chr8	52320800	52320800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccgcagaataagccgcGgagaagagcctctgggtcag	15	11	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:52320800G>A	uc003xqu.3	-	17	3485	c.3384C>T	c.(3382-3384)TCC>TCT	p.S1128S	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATAAGCCGCGGAGAAGAGCC	0.567													A	52320800	G	A	52320800	2	1	250	1	0	0	0	0	0	0	0	1	12848	1103	39	1		1	PXDNL	8	52320800	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	871500	52320800	94043222	651	124579											
PXDNL	137902	broad.mit.edu	37	chr8	52321953	52321953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgaaggcggtcagcgccGcgccccacgtgggctgctgc	17	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:52321953G>A	uc003xqu.3	-	17	2332	c.2231C>T	c.(2230-2232)GCG>GTG	p.A744V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	744					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCAGCGCCGCGCCCCACGT	0.726													A	52321953	G	A	52321953	3	1	250	1	0	0	0	0	1	0	0	0	12848	1087	38	1	2188	1	PXDNL	8	52321953	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1153	52321953	94042069	652	124580											
RP1	6101	broad.mit.edu	37	chr8	55533979	55533979	+	Frame_Shift_Del	DEL	C	C	-													gctgctcccggcatgccccgCcccccacggagcctagtggt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:55533978_55533978GC>G	uc003xsd.1	+	1	600	c.452_452GC>G	c.(451-453)cgcfs	p.R151fs	RP1_uc011ldy.1_Frame_Shift_Del_p.R151fs	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	151					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)			GGCATGCCCCGCCCCCCACGG	0.687													-	55533979	C	-	55533979	7	5	250	1	0	1	0	1	0	0	0	0	13532	726	26	0	455	0	RP1	8	55533979	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	3212026	55533979	90830043	653	124581											
RP1	6101	broad.mit.edu	37	chr8	55539117	55539117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacatgctacaaccagggCaaattctttagcttctttga	6	10	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:55539117C>A	uc003xsd.1	+	4	2823	c.2675C>A	c.(2674-2676)GCA>GAA	p.A892E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	892					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			skin(7)|ovary(4)|pancreas(1)	12		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)			ACAACCAGGGCAAATTCTTTA	0.333													A	55539117	C	A	55539117	3	1	250	1	0	0	0	0	1	0	0	0	13532	710	25	5	2685	5	RP1	8	55539117	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5138	55539117	90824905	654	124582											
TOX	9760	broad.mit.edu	37	chr8	59750746	59750746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcggcctgagtatcaCgaaagaataacgcataggca	12	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:59750746C>T	uc003xtw.1	-	5	1039	c.818G>A	c.(817-819)CGT>CAT	p.R273H		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	273	HMG box.					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		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)				CTGAGTATCACGAAAGAATAA	0.468													T	59750746	C	T	59750746	3	4	250	1	0	0	0	0	1	0	0	0	16374	536	19	1	782	1	TOX	8	59750746	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4211629	59750746	86613276	655	124583											
CHD7	55636	broad.mit.edu	37	chr8	61769061	61769061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggaggaggagaaaaatcGaaattgaggccgaaagagct	16	4	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:61769061G>A	uc003xue.2	+	34	7699	c.7222G>A	c.(7222-7224)GAA>AAA	p.E2408K		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2408	Potential.				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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GAGAAAAATCGAAATTGAGGC	0.488													A	61769061	G	A	61769061	3	1	250	1	0	0	0	0	1	0	0	0	3330	1059	37	1	7352	1	CHD7	8	61769061	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2018315	61769061	84594961	656	124584											
NCOA2	10499	broad.mit.edu	37	chr8	71071820	71071820	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgctcttcgtttgtgcAgcaacaagagtgccatcaga	10	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:71071820A>G	uc003xyn.1	-	10	1206	c.1044T>C	c.(1042-1044)GCT>GCC	p.A348A		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	348					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)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCGTTTGTGCAGCAACAAGAG	0.413			T	RUNXBP2	AML								G	71071820	A	G	71071820	2	3	250	1	0	0	0	0	0	0	0	1	10229	175	7	3		3	NCOA2	8	71071820	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	9302759	71071820	75292202	657	124585											
MMP16	4325	broad.mit.edu	37	chr8	89128759	89128759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaacaaacatctcacgacGaagaatagctagagtgttaa	8	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:89128759G>A	uc003yeb.3	-	6	1342	c.1060C>T	c.(1060-1062)CGT>TGT	p.R354C	MMP16_uc003yec.2_Missense_Mutation_p.R354C	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	354	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						ATCTCACGACGAAGAATAGCT	0.433													A	89128759	G	A	89128759	3	1	250	1	0	0	0	0	1	0	0	0	9655	1058	37	1	939	1	MMP16	8	89128759	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	18056939	89128759	57235263	658	124586											
NBN	4683	broad.mit.edu	37	chr8	90993676	90993676	+	Frame_Shift_Del	DEL	T	T	-													tcgggaaaagccattctgcaTtttttcctcattaacaaagg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:90993675_90993675AT>A	uc003yej.1	-	2	358	c.248_248AT>T	c.(247-249)atgfs	p.M83fs	NBN_uc011lgb.1_Frame_Shift_Del_p.M83fs|NBN_uc003yei.1_Frame_Shift_Del_p.M1fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	83	FHA.				DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|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			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)			GCCATTCTGCATTTTTTCCTC	0.308								Homologous recombination					-	90993676	T	-	90993676	7	5	250	1	0	1	0	1	0	0	0	0	10191	1493	52	0	2073	0	NBN	8	90993676	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	1864917	90993676	55370346	659	124587											
CALB1	793	broad.mit.edu	37	chr8	91094854	91094854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagataatcaccgtcagcGtcgaaatggagccagatctc	10	10	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:91094854G>A	uc003yel.1	-	1	254	c.72C>T	c.(70-72)GAC>GAT	p.D24D	CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	24	1.|EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CACCGTCAGCGTCGAAATGGA	0.502													A	91094854	G	A	91094854	2	1	250	1	0	0	0	0	0	0	0	1	2573	1136	40	1		1	CALB1	8	91094854	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	101178	91094854	55269168	660	124588											
TMEM67	91147	broad.mit.edu	37	chr8	94808178	94808178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccaattcaggaagaacGttttgtcacttatgttggat	9	6	2	1	rs146130549	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:94808178G>A	uc011lgk.1	+	18	1894	c.1823G>A	c.(1822-1824)CGT>CAT	p.R608H	TMEM67_uc010maw.2_Missense_Mutation_p.R314H|TMEM67_uc003yga.3_Missense_Mutation_p.R527H|TMEM67_uc011lgl.1_Missense_Mutation_p.R7H	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	608					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			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAGGAAGAACGTTTTGTCACT	0.333													A	94808178	G	A	94808178	3	1	250	1	0	0	0	0	1	0	0	0	16193	1145	40	1	2031	1	TMEM67	8	94808178	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3713324	94808178	51555844	661	124589											
TSPYL5	85453	broad.mit.edu	37	chr8	98289649	98289649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcccggcagggccacGccggtttccaacgcgggggg	15	15	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:98289649G>A	uc003yhy.2	-	1	528	c.424C>T	c.(424-426)CGT>TGT	p.R142C		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	142					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			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GCAGGGCCACGCCGGTTTCCA	0.672													A	98289649	G	A	98289649	3	1	250	1	0	0	0	0	1	0	0	0	16659	1087	38	1	833	1	TSPYL5	8	98289649	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3481471	98289649	48074373	662	124590											
VPS13B	157680	broad.mit.edu	37	chr8	100789120	100789120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttgtcccatccctttgCgtttctttccagtttgctca	7	12	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:100789120C>T	uc003yiv.2	+	41	7551	c.7440C>T	c.(7438-7440)TGC>TGT	p.C2480C	VPS13B_uc003yiw.2_Silent_p.C2455C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2480					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATCCCTTTGCGTTTCTTTCC	0.458													T	100789120	C	T	100789120	2	4	250	1	0	0	0	0	0	0	0	1	17187	776	27	1		1	VPS13B	8	100789120	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2499471	100789120	45574902	663	124591											
FZD6	8323	broad.mit.edu	37	chr8	104341961	104341961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctaaagttaaacacaaAaagaagcactataaaccaag	4	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:104341961A>G	uc003ylh.2	+	6	1904	c.1620A>G	c.(1618-1620)AAA>AAG	p.K540K	FZD6_uc003ylj.2_Silent_p.K540K|FZD6_uc011lhn.1_Silent_p.K506K|FZD6_uc011lho.1_Silent_p.K235K|FZD6_uc011lhp.1_Silent_p.K485K	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	540	Cytoplasmic (Potential).				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)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTAAACACAAAAAGAAGCACT	0.388													G	104341961	A	G	104341961	2	3	250	1	0	0	0	0	0	0	0	1	6134	11	1	3		3	FZD6	8	104341961	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3552841	104341961	42022061	664	124592											
ABRA	137735	broad.mit.edu	37	chr8	107773549	107773549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggttccttctttggggcGgccatagccctcatctcctt	9	13	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:107773549G>A	uc003ymm.3	-	2	916	c.862C>T	c.(862-864)CGC>TGC	p.R288C		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	288					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCTTTGGGGCGGCCATAGCCC	0.498													A	107773549	G	A	107773549	3	1	250	1	0	0	0	0	1	0	0	0	100	1116	39	1	287	1	ABRA	8	107773549	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3431588	107773549	38590473	665	124593											
C8orf85	441376	broad.mit.edu	37	chr8	117950647	117950647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcgccgccagcccgctGctggaggacctcagacgacg	13	18	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:117950647G>A	uc003yof.2	+	1	184	c.165G>A	c.(163-165)CTG>CTA	p.L55L		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	55											0						CCAGCCCGCTGCTGGAGGACC	0.627													A	117950647	G	A	117950647	2	1	250	1	0	0	0	0	0	0	0	1	2441	1306	46	2		2	C8orf85	8	117950647	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	10177098	117950647	28413375	666	124594											
EXT1	2131	broad.mit.edu	37	chr8	119122745	119122745	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accattgttccacaagtggaGactctgcactttggatctca	8	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:119122745G>T	uc003yok.1	-	1	1314	c.541C>A	c.(541-543)CTC>ATC	p.L181I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	181	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CACAAGTGGAGACTCTGCACT	0.483			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				T	119122745	G	T	119122745	3	4	250	1	0	0	0	0	1	0	0	0	5323	942	33	5	1743	5	EXT1	8	119122745	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1172098	119122745	27241277	667	124595											
HAS2	3037	broad.mit.edu	37	chr8	122641065	122641065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttggacaagaccaattgCgttacgtgttgcgagctttc	11	8	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:122641065C>T	uc003yph.2	-	2	1054	c.516G>A	c.(514-516)ACG>ACA	p.T172T		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	172	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	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)			AGACCAATTGCGTTACGTGTT	0.458													T	122641065	C	T	122641065	2	4	250	1	0	0	0	0	0	0	0	1	6962	755	27	1		1	HAS2	8	122641065	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3518320	122641065	23722957	668	124596											
KLHL38	340359	broad.mit.edu	37	chr8	124664919	124664920	+	Frame_Shift_Ins	INS	-	-	G													gacgatctggtccagggttgINSgggggtcaatgcctttcagc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:124664918_124664919T>TG	uc003yqs.1	-	0	272_273	c.248_249A>CA	c.(247-249)ccafs	p.P83fs		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	83	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCCAGGGTTGGGGGGTCAAT	0.579													G	124664920	-	G	124664919	7	5	250	1	0	1	1	0	0	0	0	0	8390	1348	47	0	1509	0	KLHL38	8	124664919	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	2023854	124664919	21699103	669	124597											
ANXA13	312	broad.mit.edu	37	chr8	124714942	124714942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatctgatgtcctgccCgataagatttcaatgatggc	8	11	3	3	rs140057297		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:124714942C>T	uc003yqu.2	-	3	199	c.126G>A	c.(124-126)TCG>TCA	p.S42S	ANXA13_uc003yqt.2_Silent_p.S83S	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	42	Annexin 1.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGTCCTGCCCGATAAGATTT	0.448													T	124714942	C	T	124714942	2	4	250	1	0	0	0	0	0	0	0	1	717	639	23	1		1	ANXA13	8	124714942	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	50023	124714942	21649080	670	124598											
FAM91A1	157769	broad.mit.edu	37	chr8	124786386	124786386	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtatccgcaatcagttaCgatatagaaataacttaggt	7	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:124786386C>T	uc003yqv.2	+	2	200	c.139C>T	c.(139-141)CGA>TGA	p.R47*	FAM91A1_uc011lik.1_Nonsense_Mutation_p.R47*|FAM91A1_uc011lil.1_Translation_Start_Site	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	47										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAATCAGTTACGATATAGAAA	0.333													T	124786386	C	T	124786386	4	4	250	1	0	0	0	0	0	1	0	0	5651	528	19	1	145	1	FAM91A1	8	124786386	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	71444	124786386	21577636	671	124599											
WISP1	8840	broad.mit.edu	37	chr8	134232870	134232870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggggtgcgctacaacaaCggccagtccttccagcctaa	11	13	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:134232870C>T	uc003yub.2	+	3	472	c.396C>T	c.(394-396)AAC>AAT	p.N132N	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	132	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)|kidney(1)	2	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)			GCTACAACAACGGCCAGTCCT	0.667													T	134232870	C	T	134232870	2	4	250	1	0	0	0	0	0	0	0	1	17369	535	19	1		1	WISP1	8	134232870	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9446484	134232870	12131152	672	124600											
COL22A1	169044	broad.mit.edu	37	chr8	139606361	139606361	+	Frame_Shift_Del	DEL	G	G	-													ctggaagcccatcttttccaGggggccctgggggcccaggt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:139606360_139606360AG>A	uc003yvd.3	-	62	4962	c.4515_4515CT>T	c.(4513-4515)cctfs	p.P1505fs	COL22A1_uc011ljo.2_Frame_Shift_Del_p.P785fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1505	Collagen-like 15.|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)			CATCTTTTCCAGGGGGCCCTG	0.642										HNSCC(7;0.00092)			-	139606361	G	-	139606361	7	5	250	1	0	1	0	1	0	0	0	0	3681	1000	35	0	378	0	COL22A1	8	139606361	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	5373491	139606361	6757661	673	124601											
COL22A1	169044	broad.mit.edu	37	chr8	139890158	139890158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatgccagcgcggtgggCtgccgccgcggcgtccagca	18	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:139890158C>T	uc003yvd.2	-	3	940	c.493G>A	c.(493-495)GCC>ACC	p.A165T		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	165	Poly-Ala.|VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			GCGCGGTGGGCTGCCGCCGCG	0.716										HNSCC(7;0.00092)			T	139890158	C	T	139890158	3	4	250	1	0	0	0	0	1	0	0	0	3681	797	28	2	4639	2	COL22A1	8	139890158	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	283797	139890158	6473864	674	124602											
CYP11B2	1585	broad.mit.edu	37	chr8	143996496	143996496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagatgctgggctggacGtccagggtcaggctcccccg	16	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:143996496G>A	uc003yxk.1	-	3	564	c.561C>T	c.(559-561)GAC>GAT	p.D187D		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	187					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				0	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)	TGGGCTGGACGTCCAGGGTCA	0.637									Familial_Hyperaldosteronism_type_I				A	143996496	G	A	143996496	2	1	250	1	0	0	0	0	0	0	0	1	4146	1136	40	1		1	CYP11B2	8	143996496	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4106338	143996496	2367526	675	124603											
GPIHBP1	338328	broad.mit.edu	37	chr8	144296964	144296964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagaactgctcacatggCcagacctgcacaaccctcat	7	16	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:144296964C>T	uc003yxu.1	+	3	333	c.258C>T	c.(256-258)GGC>GGT	p.G86G		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	86	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCTCACATGGCCAGACCTGCA	0.682													T	144296964	C	T	144296964	2	4	250	1	0	0	0	0	0	0	0	1	6612	726	26	2		2	GPIHBP1	8	144296964	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	300468	144296964	2067058	676	124604											
SCRIB	23513	broad.mit.edu	37	chr8	144874928	144874928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacccaccagggacacgCgcttaggggggccctcggcc	14	17	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:144874928C>T	uc003yzp.1	-	30	4134	c.4127G>A	c.(4126-4128)CGC>CAC	p.R1376H	SCRIB_uc003yzn.1_Missense_Mutation_p.R85H|SCRIB_uc003yzo.1_Missense_Mutation_p.R1376H	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1376					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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGGGACACGCGCTTAGGGGG	0.692													T	144874928	C	T	144874928	3	4	250	1	0	0	0	0	1	0	0	0	13937	768	27	1	872	1	SCRIB	8	144874928	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	577964	144874928	1489094	677	124605											
SCRIB	23513	broad.mit.edu	37	chr8	144895815	144895815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcactcacttgcccacGtccccgggcagtgcctgcag	12	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:144895815G>A	uc003yzp.1	-	4	445	c.438C>T	c.(436-438)GAC>GAT	p.D146D	SCRIB_uc003yzo.1_Silent_p.D146D|MIR937_hsa-mir-937|MI0005759_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	146	Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 5.				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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACTTGCCCACGTCCCCGGGCA	0.637													A	144895815	G	A	144895815	2	1	250	1	0	0	0	0	0	0	0	1	13937	1136	40	1		1	SCRIB	8	144895815	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	20887	144895815	1468207	678	124606											
OPLAH	26873	broad.mit.edu	37	chr8	145111052	145111052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggacttcagcccacctGttactgtcgatgatgaggca	12	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145111052G>A	uc003zar.3	-	15	2176	c.2094C>T	c.(2092-2094)AAC>AAT	p.N698N	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	698							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	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)	CAGCCCACCTGTTACTGTCGA	0.652													A	145111052	G	A	145111052	2	1	250	1	0	0	0	0	0	0	0	1	10876	1368	48	4		4	OPLAH	8	145111052	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	215237	145111052	1252970	679	124607											
SCRT1	83482	broad.mit.edu	37	chr8	145557017	145557017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatgcgtctgcatgtgcgCgcgcaggttggagcggtcgg	18	10	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145557017C>T	uc003zbw.1	-	2	989	c.877G>A	c.(877-879)GCG>ACG	p.A293T		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	293	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)			TGCATGTGCGCGCGCAGGTTG	0.642													T	145557017	C	T	145557017	3	4	250	1	0	0	0	0	1	0	0	0	13941	768	27	1	173	1	SCRT1	8	145557017	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	445965	145557017	807005	680	124608											
FOXH1	8928	broad.mit.edu	37	chr8	145699782	145699782	+	Frame_Shift_Del	DEL	C	C	-													ccctcgggtttcaggggccaCcccccagtaggcagggctgg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145699781_145699781AC>A	uc003zdc.3	-	2	1517	c.938_938GT>T	c.(937-939)gtgfs	p.V313fs		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	313	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|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			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	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;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TTCAGGGGCCACCCCCCAGTA	0.612													-	145699782	C	-	145699782	7	5	250	1	0	1	0	1	0	0	0	0	6008	507	18	0	164	0	FOXH1	8	145699782	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	142765	145699782	664240	681	124609											
PPP1R16A	84988	broad.mit.edu	37	chr8	145725521	145725521	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaccgacgggaacatgccCtatgacctgtgtgatgatga	11	10	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145725521C>A	uc003zdd.2	+	5	1432	c.519C>A	c.(517-519)CCC>CCA	p.P173P	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Silent_p.P173P|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	173						plasma membrane	protein binding				0	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)			GGAACATGCCCTATGACCTGT	0.672													A	145725521	C	A	145725521	2	1	250	1	0	0	0	0	0	0	0	1	12365	668	24	5		5	PPP1R16A	8	145725521	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	25739	145725521	638501	682	124610											
RECQL4	9401	broad.mit.edu	37	chr8	145738726	145738726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcccgcacatctggccGgtccagccccatcccaaagg	9	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145738726G>A	uc003zdj.2	-	15	2370	c.2338C>T	c.(2338-2340)CGG>TGG	p.R780W		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	780	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)|lung(1)|skin(1)	4	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)			ACATCTGGCCGGTCCAGCCCC	0.716			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				A	145738726	G	A	145738726	3	1	250	1	0	0	0	0	1	0	0	0	13202	1116	39	1	1320	1	RECQL4	8	145738726	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	13205	145738726	625296	683	124611											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771085	145771085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttctcgatgtccgtctccGaggagggcttgcgcagcgtg	15	11	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr8:145771085G>A	uc003zdt.1	-	7	2624	c.2069C>T	c.(2068-2070)TCG>TTG	p.S690L	ARHGAP39_uc011llk.1_Missense_Mutation_p.S690L|ARHGAP39_uc003zds.1_Missense_Mutation_p.S690L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	690					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GTCCGTCTCCGAGGAGGGCTT	0.652													A	145771085	G	A	145771085	3	1	250	1	0	0	0	0	1	0	0	0	884	1059	37	1	1303	1	ARHGAP39	8	145771085	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	32359	145771085	592937	684	124612											
KIAA0020	9933	broad.mit.edu	37	chr9	2831330	2831330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcacacgagttgaatcGtgtgcaaatgcaatctgcag	11	8	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:2831330G>A	uc003zhp.1	-	6	627	c.531C>T	c.(529-531)CAC>CAT	p.H177H	KIAA0020_uc010mhc.1_Silent_p.H176H|KIAA0020_uc003zhq.1_Silent_p.H177H	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	177	Pumilio 1.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		GAGTTGAATCGTGTGCAAATG	0.343													A	2831330	G	A	2831330	2	1	250	1	0	0	0	0	0	0	0	1	8152	1136	40	1		1	KIAA0020	9	2831330	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08		2831330	138382101	685	124613											
RFX3	5991	broad.mit.edu	37	chr9	3293131	3293131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaattgatcttattaattttCcaaaagaggcagcattgact	6	6	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:3293131C>A	uc003zhr.2	-	7	989	c.677G>T	c.(676-678)GGA>GTA	p.G226V	RFX3_uc010mhd.2_Missense_Mutation_p.G226V|RFX3_uc003zhs.1_Missense_Mutation_p.G226V|RFX3_uc003zht.1_Missense_Mutation_p.G226V|RFX3_uc010mhe.1_Missense_Mutation_p.G201V	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	226	RFX-type winged-helix.				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			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TATTAATTTTCCAAAAGAGGC	0.408													A	3293131	C	A	3293131	3	1	250	1	0	0	0	0	1	0	0	0	13264	855	30	5	1776	5	RFX3	9	3293131	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	461801	3293131	137920300	686	124614											
C9orf93	203238	broad.mit.edu	37	chr9	15846708	15846708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcttgcagagtctctcCgaggcaaagatggagctgag	14	9	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:15846708C>T	uc003zmd.2	+	22	3591	c.3276C>T	c.(3274-3276)TCC>TCT	p.S1092S	C9orf93_uc003zme.2_Silent_p.S1007S|C9orf93_uc011lmu.1_Silent_p.S1100S|C9orf93_uc003zmf.1_Silent_p.S400S	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1092	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AGAGTCTCTCCGAGGCAAAGA	0.438													T	15846708	C	T	15846708	2	4	250	1	0	0	0	0	0	0	0	1	2506	639	23	1		1	C9orf93	9	15846708	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	12553577	15846708	125366723	687	124615											
HAUS6	54801	broad.mit.edu	37	chr9	19063047	19063047	+	Frame_Shift_Del	DEL	T	T	-													ctctttttgaaatggatcacTttttttagctggcaaagacc					rs34558496		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:19063046_19063046CT>C	uc003znk.3	-	13	1842	c.1589_1589AG>G	c.(1588-1590)agtfs	p.S530fs	HAUS6_uc011lmz.2_Frame_Shift_Del_p.S250fs|HAUS6_uc022bdv.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znl.1_Frame_Shift_Del_p.S394fs|HAUS6_uc003znm.1_Frame_Shift_Del_p.S285fs	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	530					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|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						AAATGGATCACTTTTTTTAGC	0.373													-	19063047	T	-	19063047	7	5	250	1	0	1	0	1	0	0	0	0	6970	1609	56	0	1295	0	HAUS6	9	19063047	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	3216339	19063047	122150384	688	124616											
DDX58	23586	broad.mit.edu	37	chr9	32487588	32487588	+	Frame_Shift_Del	DEL	T	T	-													aatccaaggcttcatctgtgTttttggcatccccaacacca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:32487587_32487587GT>G	uc003zra.3	-	8	1415	c.1257_1257AC>C	c.(1255-1257)aacfs	p.N419fs	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Frame_Shift_Del_p.N374fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.N216fs|DDX58_uc010mji.3_Frame_Shift_Del_p.N348fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	419	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTCATCTGTGTTTTTGGCAT	0.448													-	32487588	T	-	32487588	7	5	250	1	0	1	0	1	0	0	0	0	4375	1725	60	0	1561	0	DDX58	9	32487588	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	13424541	32487588	108725843	689	124617											
C9orf23	138716	broad.mit.edu	37	chr9	34610959	34610959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacactgcaggcacatggCggcgcactgtgagggggtct	15	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:34610959C>T	uc003zuu.2	-	2	616	c.335G>A	c.(334-336)CGC>CAC	p.R112H	C9orf23_uc003zuv.2_Missense_Mutation_p.R112H	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	hypothetical protein LOC138716	112							nucleic acid binding				0	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)		AGGCACATGGCGGCGCACTGT	0.647													T	34610959	C	T	34610959	3	4	250	1	0	0	0	0	1	0	0	0	2474	768	27	1	160	1	C9orf23	9	34610959	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2123371	34610959	106602472	690	124618											
PIGO	84720	broad.mit.edu	37	chr9	35091523	35091523	+	Frame_Shift_Del	DEL	G	G	-													tccaagtcagcttgagaagtGggggggcctgagaagggagt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35091522_35091522TG>T	uc003zwd.3	-	6	2758	c.2362_2362CA>A	c.(2362-2364)actfs	p.T788fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.T351fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCT	0.602													-	35091523	G	-	35091523	7	5	250	1	0	1	0	1	0	0	0	0	11894	1335	47	0	928	0	PIGO	9	35091523	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	480564	35091523	106121908	691	124619											
RUSC2	9853	broad.mit.edu	37	chr9	35546877	35546877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggtgacctgtatgatgAcagcattggtgacagtgcca	12	8	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35546877A>G	uc003zww.2	+	2	614	c.359A>G	c.(358-360)GAC>GGC	p.D120G	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.D120G	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	120						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTATGATGACAGCATTGGT	0.592													G	35546877	A	G	35546877	3	3	250	1	0	0	0	0	1	0	0	0	13751	275	10	3	361	3	RUSC2	9	35546877	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	455354	35546877	105666554	692	124620											
RUSC2	9853	broad.mit.edu	37	chr9	35547005	35547005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggccatgggggacaacaCgcagtcgggctggagtggtg	19	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35547005C>T	uc003zww.2	+	2	742	c.487C>T	c.(487-489)CGC>TGC	p.R163C	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R163C	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	163						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGACAACACGCAGTCGGGC	0.622													T	35547005	C	T	35547005	3	4	250	1	0	0	0	0	1	0	0	0	13751	536	19	1	489	1	RUSC2	9	35547005	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	128	35547005	105666426	693	124621											
RUSC2	9853	broad.mit.edu	37	chr9	35555056	35555056	+	Splice_Site	DEL	G	G	-													ttctccatccctttgctacaGggggtggcaccgagagccga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35555055_35555055AG>A	uc003zww.3	+	3	2270	c.2015_splice	c.e3-2	p.G672_splice	RUSC2_uc010mkq.3_Splice_Site|RUSC2_uc003zwx.4_Splice_Site_p.G672_splice	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	672						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)			CCTTTGCTACAGGGGGTGGCA	0.567													-	35555056	G	-	35555056	8	5	250	1	0	1	0	1	0	0	1	0	13751	1014	35	0	2020	0	RUSC2	9	35555056	Splice_Site	DEL	G	TCGA-HF-7132-01A-11D-2053-08	8051	35555056	105658375	694	124622											
OR2S2	56656	broad.mit.edu	37	chr9	35957249	35957249	+	Frame_Shift_Del	DEL	G	G	-													ggtcaccaccccatagaaaaGggggatgagtttgtctgaaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:35957248_35957248AG>A	uc011lpi.2	-	0	904	c.848_848CT>T	c.(847-849)cttfs	p.L283fs		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	283					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)			CCCATAGAAAAGGGGGATGAG	0.498													-	35957249	G	-	35957249	7	5	250	1	0	1	0	1	0	0	0	0	11015	1000	35	0	116	0	OR2S2	9	35957249	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	402193	35957249	105256182	695	124623											
FRMPD1	22844	broad.mit.edu	37	chr9	37746671	37746671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcgagagaggctaccacGacctgagtgtgaaactcctg	12	12	0	3	rs146303578		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:37746671G>A	uc004aag.1	+	16	4686	c.4642G>A	c.(4642-4644)GAC>AAC	p.D1548N	FRMPD1_uc004aah.1_Missense_Mutation_p.D1548N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1548						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		AGGCTACCACGACCTGAGTGT	0.607													A	37746671	G	A	37746671	3	1	250	1	0	0	0	0	1	0	0	0	6057	1058	37	1	4700	1	FRMPD1	9	37746671	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1789422	37746671	103466760	696	124624											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	12	3	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					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			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443													T	70993121	C	T	70993121	4	4	250	1	0	0	0	0	0	1	0	0	11801	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	33246450	70993121	70220310	697	124625											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	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			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	250	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	24	70993145	70220286	698	124626											
TJP2	9414	broad.mit.edu	37	chr9	71863051	71863051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggacggtgaaggaggcGcctacactgacaatgagctg	14	10	0	3	rs139276234		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:71863051G>A	uc004ahe.2	+	19	2991	c.2791G>A	c.(2791-2793)GCC>ACC	p.A931T	TJP2_uc011lrs.1_Missense_Mutation_p.A908T|TJP2_uc004ahd.2_Missense_Mutation_p.A931T|TJP2_uc004ahf.2_Missense_Mutation_p.A931T|TJP2_uc011lru.1_Missense_Mutation_p.A935T|TJP2_uc011lrv.1_Missense_Mutation_p.A953T|TJP2_uc010mom.1_Missense_Mutation_p.A91T	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	931					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						TGAAGGAGGCGCCTACACTGA	0.622													A	71863051	G	A	71863051	3	1	250	1	0	0	0	0	1	0	0	0	15927	1087	38	1	3022	1	TJP2	9	71863051	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	869906	71863051	69350380	699	124627											
TRPM3	80036	broad.mit.edu	37	chr9	73254016	73254016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggagatggtgagaaaaCggtgcatgcttactccattc	12	8	1	2	rs143760929		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:73254016C>T	uc004aid.2	-	11	1785	c.1541G>A	c.(1540-1542)CGT>CAT	p.R514H	TRPM3_uc004ahu.2_Missense_Mutation_p.R344H|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Missense_Mutation_p.R386H|TRPM3_uc004ahx.2_Missense_Mutation_p.R361H|TRPM3_uc004ahy.2_Missense_Mutation_p.R386H|TRPM3_uc004ahz.2_Missense_Mutation_p.R361H|TRPM3_uc004aia.2_Missense_Mutation_p.R361H|TRPM3_uc004aib.2_Missense_Mutation_p.R361H|TRPM3_uc004aic.2_Missense_Mutation_p.R514H|TRPM3_uc010mor.2_Missense_Mutation_p.R514H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	539	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGTGAGAAAACGGTGCATGCT	0.413													T	73254016	C	T	73254016	3	4	250	1	0	0	0	0	1	0	0	0	16584	536	19	1	3682	1	TRPM3	9	73254016	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1390965	73254016	67959415	700	124628											
RORB	6096	broad.mit.edu	37	chr9	77249562	77249562	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggattctttaggaggAgccagcagaacaatgcttct	11	8	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:77249562A>C	uc004aji.2	+	3	191	c.142A>C	c.(142-144)AGC>CGC	p.S48R	RORB_uc004ajh.2_Missense_Mutation_p.S37R	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	48	Nuclear receptor.				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CTTTAGGAGGAGCCAGCAGAA	0.423													C	77249562	A	C	77249562	3	2	250	1	0	0	0	0	1	0	0	0	13529	304	11	5	119	5	RORB	9	77249562	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3995546	77249562	63963869	701	124629											
PRUNE2	158471	broad.mit.edu	37	chr9	79328528	79328528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagcaatctgtcgtctcGgctgctgctcctctgacaga	9	14	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:79328528G>A	uc010mpk.2	-	7	990	c.866C>T	c.(865-867)CCG>CTG	p.P289L		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	289					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTGTCGTCTCGGCTGCTGCTC	0.498													A	79328528	G	A	79328528	3	1	250	1	0	0	0	0	1	0	0	0	12641	1116	39	1	8452	1	PRUNE2	9	79328528	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2078966	79328528	61884903	702	124630											
TLE4	7091	broad.mit.edu	37	chr9	82333695	82333695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctgtcccttttccacccGacgccctcatcggacctgga	8	18	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:82333695G>A	uc004ald.2	+	16	2323	c.1474G>A	c.(1474-1476)GAC>AAC	p.D492N	TLE4_uc004alc.2_Missense_Mutation_p.D467N|TLE4_uc010mpr.2_Missense_Mutation_p.D346N|TLE4_uc004ale.2_Missense_Mutation_p.D104N|TLE4_uc011lsq.1_Missense_Mutation_p.D435N|TLE4_uc010mps.2_Missense_Mutation_p.D391N|TLE4_uc004alf.2_Missense_Mutation_p.D406N	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						TTTTCCACCCGACGCCCTCAT	0.562													A	82333695	G	A	82333695	3	1	250	1	0	0	0	0	1	0	0	0	15938	1058	37	1	1457	1	TLE4	9	82333695	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3005167	82333695	58879736	703	124631											
TLE1	7088	broad.mit.edu	37	chr9	84226807	84226807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgccgttcatgccagcGtgggggaccatcccaaaagg	13	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:84226807G>A	uc004aly.2	-	13	1572	c.1131C>T	c.(1129-1131)CAC>CAT	p.H377H	TLE1_uc004alz.2_Silent_p.H387H|TLE1_uc011lsr.1_Silent_p.H362H|TLE1_uc004ama.1_Silent_p.H376H|TLE1_uc011lss.1_Silent_p.H303H	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	377	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TCATGCCAGCGTGGGGGACCA	0.642													A	84226807	G	A	84226807	2	1	250	1	0	0	0	0	0	0	0	1	15935	1136	40	1		1	TLE1	9	84226807	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1893112	84226807	56986624	704	124632											
FLJ46321	389763	broad.mit.edu	37	chr9	84606168	84606168	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagtggagtccagcctccaAcctgaagccagtttgtctct	10	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:84606168A>T	uc004amn.2	+	4	830	c.783A>T	c.(781-783)CAA>CAT	p.Q261H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	261						integral to membrane					0						CCAGCCTCCAACCTGAAGCCA	0.507													T	84606168	A	T	84606168	3	4	250	1	0	0	0	0	1	0	0	0	5932	40	2	5	797	5	FLJ46321	9	84606168	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	379361	84606168	56607263	705	124633											
RASEF	158158	broad.mit.edu	37	chr9	85637259	85637259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaactcacgtctttccGtgtcttatgttctgcagcct	7	13	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:85637259G>A	uc004amo.1	-	3	922	c.661C>T	c.(661-663)CGG>TGG	p.R221W		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	221	Potential.				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						ACGTCTTTCCGTGTCTTATGT	0.303													A	85637259	G	A	85637259	3	1	250	1	0	0	0	0	1	0	0	0	13068	1144	40	1	1621	1	RASEF	9	85637259	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1031091	85637259	55576172	706	124634											
ZCCHC6	79670	broad.mit.edu	37	chr9	88937823	88937824	+	Frame_Shift_Ins	INS	-	-	A													ataagtttactgaattcataINSaaaaaaatcagactgatcca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:88937822_88937823T>TA	uc004aou.3	-	12	2980_2981	c.2842_2843A>TA	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Ins_p.Y948fs|ZCCHC6_uc004aot.3_Frame_Shift_Ins_p.Y825fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	948					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|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						ACTGAATTCATAAAAAAAATCA	0.332													A	88937824	-	A	88937823	7	5	250	1	0	1	1	0	0	0	0	0	17589	362	13	0	1705	0	ZCCHC6	9	88937823	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	3300564	88937823	52275608	707	124635											
FANCC	2176	broad.mit.edu	37	chr9	97933362	97933362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttagtttaacacctaccGcctttgagtgttaaatccat	6	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:97933362G>A	uc004avh.2	-	6	782	c.520C>T	c.(520-522)CGA>TGA	p.R174*	FANCC_uc004avi.3_Nonsense_Mutation_p.R174*|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	174					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				AACACCTACCGCCTTTGAGTG	0.353			D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	97933362	G	A	97933362	4	1	250	1	0	0	0	0	0	1	0	0	5664	1101	38	1	1196	1	FANCC	9	97933362	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	8995539	97933362	43280069	708	124636											
TBC1D2	55357	broad.mit.edu	37	chr9	100983199	100983199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagactggtcaggggggtgCgtgaagtcctgggtgacctt	19	7	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:100983199C>T	uc011lvb.1	-	6	1470	c.1290G>A	c.(1288-1290)ACG>ACA	p.T430T	TBC1D2_uc004ayq.2_Silent_p.T430T|TBC1D2_uc004ayr.2_Silent_p.T212T|TBC1D2_uc004ayo.3_Silent_p.T430T	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	430	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGGGGTGCGTGAAGTCCT	0.607													T	100983199	C	T	100983199	2	4	250	1	0	0	0	0	0	0	0	1	15605	755	27	1		1	TBC1D2	9	100983199	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3049837	100983199	40230232	709	124637											
TEX10	54881	broad.mit.edu	37	chr9	103070934	103070934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccaaaaacacagccagcCgtgctgtcaggaattacagt	8	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:103070934C>T	uc004bas.2	-	13	2528	c.2313G>A	c.(2311-2313)ACG>ACA	p.T771T	TEX10_uc011lvf.1_Silent_p.T610T|TEX10_uc011lvg.1_Silent_p.T774T	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	771						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CACAGCCAGCCGTGCTGTCAG	0.443													T	103070934	C	T	103070934	2	4	250	1	0	0	0	0	0	0	0	1	15769	639	23	1		1	TEX10	9	103070934	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2087735	103070934	38142497	710	124638											
ABCA1	19	broad.mit.edu	37	chr9	107555572	107555572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagataatggtgacacaaagCgattctcccctagtagacac	8	10	1	3	rs139363994	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:107555572C>T	uc004bcl.2	-	41	5829	c.5516G>A	c.(5515-5517)CGC>CAC	p.R1839H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1839					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			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGACACAAAGCGATTCTCCCC	0.483													T	107555572	C	T	107555572	3	4	250	1	0	0	0	0	1	0	0	0	28	768	27	1	1309	1	ABCA1	9	107555572	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4484638	107555572	33657859	711	124639											
ABCA1	19	broad.mit.edu	37	chr9	107583747	107583747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttcccaggatgtaggCggtgcccgaggtcgggggga	18	9	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:107583747C>T	uc004bcl.2	-	20	3182	c.2869G>A	c.(2869-2871)GCC>ACC	p.A957T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	957	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			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGATGTAGGCGGTGCCCGAG	0.532													T	107583747	C	T	107583747	3	4	250	1	0	0	0	0	1	0	0	0	28	768	27	1	4040	1	ABCA1	9	107583747	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	28175	107583747	33629684	712	124640											
ZNF462	58499	broad.mit.edu	37	chr9	109687968	109687968	+	Frame_Shift_Del	DEL	C	C	-													gcagcagccacagccacccaCacaagccgcacctctgcacc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:109687967_109687967AC>A	uc004bcz.3	+	2	2063	c.1774_1774AC>A	c.(1774-1776)acafs	p.T592fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Del_p.T440fs|ZNF462_uc004bda.3_Frame_Shift_Del_p.T440fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	592					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						ACAGCCACCCACACAAGCCGC	0.557													-	109687968	C	-	109687968	7	5	250	1	0	1	0	1	0	0	0	0	17923	478	17	0	1781	0	ZNF462	9	109687968	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	2104221	109687968	31525463	713	124641											
ZNF462	58499	broad.mit.edu	37	chr9	109689704	109689704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctccccccggccacccGcccccatacaacagctgaac	7	21	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:109689704G>A	uc004bcz.2	+	3	3800	c.3511G>A	c.(3511-3513)GCC>ACC	p.A1171T	ZNF462_uc010mto.2_Missense_Mutation_p.A1019T|ZNF462_uc004bda.2_Missense_Mutation_p.A1019T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1171					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1171T(1)		ovary(5)	5						CCGGCCACCCGCCCCCATACA	0.557													A	109689704	G	A	109689704	3	1	250	1	0	0	0	0	1	0	0	0	17923	1087	38	1	3517	1	ZNF462	9	109689704	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1736	109689704	31523727	714	124642											
C9orf6	54942	broad.mit.edu	37	chr9	111698719	111698719	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggaaatttaagcgggTatgttcctgtaattctgtga	11	6	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:111698719T>C	uc004bdn.2	+	3	355	c.261_splice	c.e3+2	p.R87_splice	IKBKAP_uc004bdm.3_5'Flank|IKBKAP_uc011lwc.1_5'Flank|IKBKAP_uc010mtq.2_5'Flank|C9orf6_uc010mtr.2_Intron	NM_017832	NP_060302	Q9NX38	CI006_HUMAN	hypothetical protein LOC54942						glycine catabolic process	glycine cleavage complex				pancreas(1)	1		Myeloproliferative disorder(63;0.0511)		OV - Ovarian serous cystadenocarcinoma(323;9.58e-07)		TTTAAGCGGGTATGTTCCTGT	0.373													C	111698719	T	C	111698719	5	2	250	1	0	0	0	0	0	0	1	0	2488	1652	57	3	273	3	C9orf6	9	111698719	Splice_Site	SNP	T	TCGA-HF-7132-01A-11D-2053-08	2009015	111698719	29514712	715	124643											
PTPN3	5774	broad.mit.edu	37	chr9	112216857	112216859	+	Splice_Site	DEL	ACA	ACA	-													gggtacaggggaaacctcctAcaacatttttcaaaaacaaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:112216856_112216858TACA>T	uc004bed.2	-	5	402	c.290_splice	c.e5-1	p.G97_splice	PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.G97_splice|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.4_3'UTR	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	97	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						GGAAACCTCCTACAACATTTTTC	0.35													-	112216859	ACA	-	112216857	8	5	250	1	0	1	0	1	0	0	1	0	12789	406	14	0		0	PTPN3	9	112216857	Splice_Site	DEL	ACA	TCGA-HF-7132-01A-11D-2053-08	518138	112216857	28996574	716	124644											
UGCG	7357	broad.mit.edu	37	chr9	114691946	114691946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattactttatggccaaagCgatagctgaccggtaagaca	10	8	0	3	rs62570269		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:114691946C>T	uc004bft.2	+	6	1015	c.725C>T	c.(724-726)GCG>GTG	p.A242V		NM_003358	NP_003349	Q16739	CEGT_HUMAN	ceramide glucosyltransferase	242	Lumenal (Potential).				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	p.A242A(1)		ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATGGCCAAAGCGATAGCTGAC	0.363													T	114691946	C	T	114691946	3	4	250	1	0	0	0	0	1	0	0	0	16936	768	27	1	747	1	UGCG	9	114691946	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2475089	114691946	26521485	717	124645											
SUSD1	64420	broad.mit.edu	37	chr9	114825301	114825301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaaaaaattctacttccGggaggggaggctctgaaaac	11	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:114825301G>A	uc004bfu.2	-	13	1807	c.1766C>T	c.(1765-1767)CCG>CTG	p.P589L	SUSD1_uc010mui.2_Missense_Mutation_p.P589L|SUSD1_uc010muj.2_Missense_Mutation_p.P589L	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	589	Extracellular (Potential).					integral to membrane	calcium ion binding				0						TTCTACTTCCGGGAGGGGAGG	0.463													A	114825301	G	A	114825301	3	1	250	1	0	0	0	0	1	0	0	0	15404	1116	39	1	497	1	SUSD1	9	114825301	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	133355	114825301	26388130	718	124646											
C9orf80	58493	broad.mit.edu	37	chr9	115456516	115456517	+	Splice_Site	INS	-	-	A													atttttgttttgaaaacctaINSaaaaaaagaggggaatagga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:115456515_115456516T>TA	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGAG	0.347													A	115456517	-	A	115456516	8	5	250	1	0	1	1	0	0	0	1	0	2498	377	13	0		0	C9orf80	9	115456516	Splice_Site	INS	-	TCGA-HF-7132-01A-11D-2053-08	631215	115456516	25756915	719	124647											
PRPF4	9128	broad.mit.edu	37	chr9	116038946	116038947	+	Frame_Shift_Ins	INS	-	-	T													gccaaaggagagtctgggatINStttggggaaagacggactta							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:116038945_116038946A>AT	uc004bgx.3	+	1	258_259	c.148_149A>AT	c.(148-150)attfs	p.I50fs	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.3_Frame_Shift_Ins_p.I49fs	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	50						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding	p.G49V(1)|p.G49W(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						AGAGTCTGGGATTTTGGGGAAA	0.455													T	116038947	-	T	116038946	7	5	250	1	0	1	1	0	0	0	0	0	12570	1493	52	0	155	0	PRPF4	9	116038946	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	582430	116038946	25174485	720	124648											
TNC	3371	broad.mit.edu	37	chr9	117825395	117825395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcataggttccatctggCgtggtccagttcagtctgag	13	9	4	1	rs150370072		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:117825395C>T	uc004bjj.3	-	13	4196	c.3834G>A	c.(3832-3834)ACG>ACA	p.T1278T	TNC_uc010mvf.2_Silent_p.T1278T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1278	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TTCCATCTGGCGTGGTCCAGT	0.537													T	117825395	C	T	117825395	2	4	250	1	0	0	0	0	0	0	0	1	16267	755	27	1		1	TNC	9	117825395	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1786449	117825395	23388036	721	124649											
DAB2IP	153090	broad.mit.edu	37	chr9	124544646	124544646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttggatgccgccaatgccCgcctcatgagtgccctgacc	11	16	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:124544646C>T	uc004bln.2	+	16	3424	c.3355C>T	c.(3355-3357)CGC>TGC	p.R1119C	DAB2IP_uc004blo.2_Missense_Mutation_p.R1023C|DAB2IP_uc004blp.2_Missense_Mutation_p.R552C	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	1147	Potential.				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			ovary(1)|central_nervous_system(1)	2						CGCCAATGCCCGCCTCATGAG	0.572													T	124544646	C	T	124544646	3	4	250	1	0	0	0	0	1	0	0	0	4219	652	23	1	3417	1	DAB2IP	9	124544646	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6719251	124544646	16668785	722	124650											
NDUFA8	4702	broad.mit.edu	37	chr9	124910470	124910470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactttgcctgctgtttgCgacagtgacgaaataactgc	9	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:124910470C>T	uc004blv.2	-	3	444	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	101	CHCH 2.|C-X9-C motif 4.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	CTGCTGTTTGCGACAGTGACG	0.483													T	124910470	C	T	124910470	3	4	250	1	0	0	0	0	1	0	0	0	10271	768	27	1	224	1	NDUFA8	9	124910470	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	365824	124910470	16302961	723	124651											
PTGS1	5742	broad.mit.edu	37	chr9	125141077	125141077	+	Frame_Shift_Del	DEL	C	C	-													gctccaaccttatccccagtCcccccacctacaactcagca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:125141076_125141076TC>T	uc004bmg.1	+	4	510	c.375_375TC>T	c.(373-375)agtfs	p.S125fs	PTGS1_uc011lys.1_Frame_Shift_Del_p.S100fs|PTGS1_uc010mwb.1_Frame_Shift_Del_p.S16fs|PTGS1_uc004bmf.1_Frame_Shift_Del_p.S125fs|PTGS1_uc004bmh.1_Frame_Shift_Del_p.S16fs|PTGS1_uc011lyt.1_Frame_Shift_Del_p.S16fs	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	125					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|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)|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)|gamma-Homolinolenic acid(DB00154)	TTATCCCCAGTCCCCCCACCT	0.532													-	125141077	C	-	125141077	7	5	250	1	0	1	0	1	0	0	0	0	12755	855	30	0	394	0	PTGS1	9	125141077	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	230607	125141077	16072354	724	124652											
OR1K1	392392	broad.mit.edu	37	chr9	125562441	125562441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagagggaatctcattcGttttattgggactgacaaca	9	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:125562441G>A	uc011lze.1	+	1	40	c.40G>A	c.(40-42)GTT>ATT	p.V14I		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AATCTCATTCGTTTTATTGGG	0.522													A	125562441	G	A	125562441	3	1	250	1	0	0	0	0	1	0	0	0	10962	1145	40	1	42	1	OR1K1	9	125562441	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	421364	125562441	15650990	725	124653											
PPP6C	5537	broad.mit.edu	37	chr9	127911974	127911974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaaatatggcgttgtcGttctgggaggaataacacgt	13	5	1	0	rs144776498		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:127911974G>A	uc004bpg.3	-	7	1117	c.896C>T	c.(895-897)ACG>ATG	p.T299M	PPP6C_uc010mwv.2_Missense_Mutation_p.T336M|PPP6C_uc010mww.2_Missense_Mutation_p.T277M|PPP6C_uc011lzr.1_Missense_Mutation_p.T152M	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	299					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						TGGCGTTGTCGTTCTGGGAGG	0.428													A	127911974	G	A	127911974	3	1	250	1	0	0	0	0	1	0	0	0	12407	1145	40	1	25	1	PPP6C	9	127911974	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2349533	127911974	13301457	726	124654											
ZBTB34	403341	broad.mit.edu	37	chr9	129642360	129642360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccatgagcaaggagacCtattggtgagggagagccag	16	7	0	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:129642360C>T	uc004bqm.3	+	2	767	c.670C>T	c.(670-672)CTA>TTA	p.L224L		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCAAGGAGACCTATTGGTGAG	0.582													T	129642360	C	T	129642360	2	4	250	1	0	0	0	0	0	0	0	1	17534	680	24	4		4	ZBTB34	9	129642360	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1730386	129642360	11571071	727	124655											
TOR2A	27433	broad.mit.edu	37	chr9	130496636	130496636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggagaaaagtggtgcAcgcgggggctgcggaggccg	22	8	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:130496636A>G	uc004brs.3	-	2	414	c.359T>C	c.(358-360)GTG>GCG	p.V120A	TOR2A_uc004brt.3_Missense_Mutation_p.V120A|TOR2A_uc004brw.3_Missense_Mutation_p.V120A|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A isoform a	120					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity				0						AAAGTGGTGCACGCGGGGGCT	0.647											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	130496636	A	G	130496636	3	3	250	1	0	0	0	0	1	0	0	0	16372	159	6	3	791	3	TOR2A	9	130496636	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	854276	130496636	10716795	728	124656											
NAIF1	203245	broad.mit.edu	37	chr9	130829150	130829150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccttgcgacggacctcGgtcttgaggtcagaccactt	11	13	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:130829150G>A	uc004bta.2	-	1	450	c.231C>T	c.(229-231)ACC>ACT	p.T77T	NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	77					apoptosis|induction of apoptosis	nucleus					0						GACGGACCTCGGTCTTGAGGT	0.692													A	130829150	G	A	130829150	2	1	250	1	0	0	0	0	0	0	0	1	10146	1103	39	1		1	NAIF1	9	130829150	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	332514	130829150	10384281	729	124657											
SLC27A4	10999	broad.mit.edu	37	chr9	131117710	131117710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggacgagctgggctaccTgtacttccgagaccgcactg	13	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:131117710T>C	uc004but.2	+	11	1780	c.1496T>C	c.(1495-1497)CTG>CCG	p.L499P	SLC27A4_uc004buu.2_Missense_Mutation_p.L93P	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	499					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						CTGGGCTACCTGTACTTCCGA	0.642													C	131117710	T	C	131117710	3	2	250	1	0	0	0	0	1	0	0	0	14528	1580	55	3	1534	3	SLC27A4	9	131117710	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	288560	131117710	10095721	730	124658											
NUP188	23511	broad.mit.edu	37	chr9	131765224	131765224	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctgaggccctggacttCgtgggtgtccaccaggagcg	15	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:131765224C>T	uc004bws.1	+	37	4288	c.4266C>T	c.(4264-4266)TTC>TTT	p.F1422F	NUP188_uc004bwu.2_Silent_p.F765F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1422					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CCCTGGACTTCGTGGGTGTCC	0.592													T	131765224	C	T	131765224	2	4	250	1	0	0	0	0	0	0	0	1	10758	883	31	1		1	NUP188	9	131765224	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	647514	131765224	9448207	731	124659											
NUP188	23511	broad.mit.edu	37	chr9	131768861	131768861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtgtcctcccctcgccGcagggcaagtccacctctct	9	18	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:131768861G>A	uc004bws.1	+	44	5176	c.5154G>A	c.(5152-5154)CCG>CCA	p.P1718P		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1718					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TCCCCTCGCCGCAGGGCAAGT	0.612											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	131768861	G	A	131768861	2	1	250	1	0	0	0	0	0	0	0	1	10758	1074	38	1		1	NUP188	9	131768861	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3637	131768861	9444570	732	124660											
LAMC3	10319	broad.mit.edu	37	chr9	133942350	133942350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccctctacacacagggcGgcgctgtgaggtctgtgatg	14	12	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:133942350G>A	uc004caa.1	+	14	2449	c.2351G>A	c.(2350-2352)CGG>CAG	p.R784Q		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	784	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACACAGGGCGGCGCTGTGAG	0.642													A	133942350	G	A	133942350	3	1	250	1	0	0	0	0	1	0	0	0	8616	1116	39	1	2405	1	LAMC3	9	133942350	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2173489	133942350	7271081	733	124661											
RAPGEF1	2889	broad.mit.edu	37	chr9	134455666	134455666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgcctgctggaagcagcGcatgctgtcgaggatgttga	14	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:134455666G>A	uc004cbc.2	-	23	3197	c.3067C>T	c.(3067-3069)CGC>TGC	p.R1023C	RAPGEF1_uc004cbb.2_Missense_Mutation_p.R1041C	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	1023	Ras-GEF.				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			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGGAAGCAGCGCATGCTGTCG	0.632													A	134455666	G	A	134455666	3	1	250	1	0	0	0	0	1	0	0	0	13043	1087	38	1	174	1	RAPGEF1	9	134455666	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	513316	134455666	6757765	734	124662											
CEL	1056	broad.mit.edu	37	chr9	135939797	135939797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctccctcgcagctgggcGccgtgtacacagaaggtggg	15	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:135939797G>A	uc010naa.1	+	2	98	c.82G>A	c.(82-84)GCC>ACC	p.A28T		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	25	Heparin-binding.				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			pancreas(1)	1				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)		GCAGCTGGGCGCCGTGTACAC	0.652													A	135939797	G	A	135939797	3	1	250	1	0	0	0	0	1	0	0	0	3209	1087	38	1	88	1	CEL	9	135939797	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1484131	135939797	5273634	735	124663											
BRD3	8019	broad.mit.edu	37	chr9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgctgctcagctgccCgctgacatcctgcagacgct	10	16	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:136899859C>T	uc004cew.2	-	11	2217	c.2029G>A	c.(2029-2031)GGG>AGG	p.G677R		NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	677	Potential.|Ser-rich.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCAGCTGCCCGCTGACATCC	0.617			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136899859	C	T	136899859	3	4	250	1	0	0	0	0	1	0	0	0	1503	652	23	1	159	1	BRD3	9	136899859	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	960062	136899859	4313572	736	124664											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713788	138713788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttgccgagcttcaggcGctgccttgccgacagcgcct	12	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:138713788G>A	uc004cgr.3	-	11	2719	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	CAMSAP1_uc004cgq.3_Missense_Mutation_p.R797C|CAMSAP1_uc010nbg.2_Missense_Mutation_p.R629C	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	907						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCTTCAGGCGCTGCCTTGCC	0.622													A	138713788	G	A	138713788	3	1	250	1	0	0	0	0	1	0	0	0	2611	1087	38	1	2117	1	CAMSAP1	9	138713788	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1813929	138713788	2499643	737	124665											
UBAC1	10422	broad.mit.edu	37	chr9	138825253	138825253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaacgccacctacgtgCgatttagtgtctggaagatt	11	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:138825253C>T	uc004cgt.2	-	10	1429	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H	UBAC1_uc004cgs.1_Intron|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	404						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CACCTACGTGCGATTTAGTGT	0.572													T	138825253	C	T	138825253	3	4	250	1	0	0	0	0	1	0	0	0	16831	768	27	1	10	1	UBAC1	9	138825253	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	111465	138825253	2388178	738	124666											
SEC16A	9919	broad.mit.edu	37	chr9	139341370	139341370	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggcccttccctgccAgtcccgtctggaagctgtgg	13	15	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:139341370A>C	uc004chx.2	-	28	7038	c.6729T>G	c.(6727-6729)ACT>ACG	p.T2243T	SEC16A_uc004chp.2_RNA|SEC16A_uc004chq.2_Silent_p.T106T|SEC16A_uc011mea.1_Silent_p.T103T|SEC16A_uc004chr.2_Silent_p.T271T|SEC16A_uc004chs.2_Silent_p.T83T|SEC16A_uc004cht.2_Silent_p.T293T|SEC16A_uc004chu.2_Silent_p.T450T|SEC16A_uc004chv.3_Silent_p.T1633T|SEC16A_uc004chw.2_Silent_p.T2243T|SEC16A_uc010nbn.2_Silent_p.T2265T	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	2065	Required for interaction with SEC23A.|Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTCCCTGCCAGTCCCGTCTG	0.627													C	139341370	A	C	139341370	2	2	250	1	0	0	0	0	0	0	0	1	13986	175	7	5		5	SEC16A	9	139341370	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	516117	139341370	1872061	739	124667											
ABCA2	20	broad.mit.edu	37	chr9	139903997	139903997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggggcgccctcacctgtGtgatgtcagcaccactgaac	13	13	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:139903997G>A	uc011mem.1	-	43	6875	c.6727C>T	c.(6727-6729)CAC>TAC	p.H2243Y	ABCA2_uc011mel.1_Missense_Mutation_p.H2244Y|ABCA2_uc004ckl.1_Missense_Mutation_p.H2174Y|ABCA2_uc004ckm.1_Missense_Mutation_p.H2274Y	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2243	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				0	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)		CCTCACCTGTGTGATGTCAGC	0.652													A	139903997	G	A	139903997	3	1	250	1	0	0	0	0	1	0	0	0	32	1377	48	4	604	4	ABCA2	9	139903997	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	562627	139903997	1309434	740	124668											
C9orf139	401563	broad.mit.edu	37	chr9	139929461	139929462	+	Frame_Shift_Ins	INS	-	-	G													atgagtcaaagagaaagtcgINSgggggcaggggctccccctc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:139929460_139929461C>CG	uc004ckp.1	+	2	2041_2042	c.527_528C>CG	c.(526-528)tcgfs	p.S176fs	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	176										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)		AAGAGAAAGTCGGGGGGCAGGG	0.619													G	139929462	-	G	139929461	7	5	250	1	0	1	1	0	0	0	0	0	2459	1103	39	0	534	0	C9orf139	9	139929461	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	25464	139929461	1283970	741	124669											
COBRA1	25920	broad.mit.edu	37	chr9	140161507	140161507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaagccccagtctcaTatccaaacacacttcccgaa	6	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140161507T>C	uc004cmm.3	+	9	1410	c.1207T>C	c.(1207-1209)TAT>CAT	p.Y403H		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	403					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CCCAGTCTCATATCCAAACAC	0.567													C	140161507	T	C	140161507	3	2	250	1	0	0	0	0	1	0	0	0	3655	1406	49	3	1241	3	COBRA1	9	140161507	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	232046	140161507	1051924	742	124670											
ENTPD8	377841	broad.mit.edu	37	chr9	140332630	140332630	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accttgatgtctgtgggcagGagcacgctggtggcctccac	14	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140332630G>T	uc004cmw.2	-	2	292	c.108C>A	c.(106-108)CTC>CTA	p.L36L	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.L36L|ENTPD8_uc004cmy.2_Silent_p.L36L	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	36	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGTGGGCAGGAGCACGCTGG	0.677													T	140332630	G	T	140332630	2	4	250	1	0	0	0	0	0	0	0	1	5145	1161	41	5		5	ENTPD8	9	140332630	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	171123	140332630	880801	743	124671											
PNPLA7	375775	broad.mit.edu	37	chr9	140417285	140417285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggccgcgcggacggagaCcgttttgtaaggtgcagcat	16	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140417285C>T	uc004cnf.2	-	8	1034	c.697G>A	c.(697-699)GTC>ATC	p.V233I	PNPLA7_uc011mfa.1_5'UTR|PNPLA7_uc010ncj.1_Missense_Mutation_p.V258I	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	233	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGGACGGAGACCGTTTTGTAA	0.592													T	140417285	C	T	140417285	3	4	250	1	0	0	0	0	1	0	0	0	12170	507	18	4	3364	4	PNPLA7	9	140417285	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	84655	140417285	796146	744	124672											
CACNA1B	774	broad.mit.edu	37	chr9	140777293	140777293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaagggctcttacctgcGgaacggctggaacgtcatgg	13	12	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr9:140777293G>A	uc004cog.2	+	3	633	c.488G>A	c.(487-489)CGG>CAG	p.R163Q	uc004cof.1_RNA	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	163	Cytoplasmic (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTTACCTGCGGAACGGCTGG	0.582													A	140777293	G	A	140777293	3	1	250	1	0	0	0	0	1	0	0	0	2539	1116	39	1	498	1	CACNA1B	9	140777293	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	360008	140777293	436138	745	124673											
ZMYND11	10771	broad.mit.edu	37	chr10	298288	298288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccgatttcttacctgcagTgctacaactgtgaggaggag	11	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:298288T>C	uc010pzt.1	+	15	2115	c.1687T>C	c.(1687-1689)TGC>CGC	p.C563R	ZMYND11_uc010pzu.1_Missense_Mutation_p.C563R|ZMYND11_uc010pzv.1_Missense_Mutation_p.C508R|ZMYND11_uc010pzw.1_Missense_Mutation_p.C478R|ZMYND11_uc001ifm.2_Missense_Mutation_p.C509R|ZMYND11_uc009xhg.2_Missense_Mutation_p.C546R|ZMYND11_uc009xhh.2_Missense_Mutation_p.C437R|ZMYND11_uc010pzy.1_Missense_Mutation_p.C415R	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	523	MYND-type.|Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTACCTGCAGTGCTACAACTG	0.512													C	298288	T	C	298288	3	2	250	1	0	0	0	0	1	0	0	0	17703	1710	59	3	1762	3	ZMYND11	10	298288	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08		298288	135236459	746	124674											
TUBAL3	79861	broad.mit.edu	37	chr10	5443015	5443015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtccccaatctggatGccagcttgaccgatgtggat	12	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:5443015G>A	uc001ihy.2	-	2	79	c.39C>T	c.(37-39)GGC>GGT	p.G13G	TUBAL3_uc001ihz.2_Intron	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	13					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						CAATCTGGATGCCAGCTTGAC	0.463													A	5443015	G	A	5443015	2	1	250	1	0	0	0	0	0	0	0	1	16748	1306	46	2		2	TUBAL3	10	5443015	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5144727	5443015	130091732	747	124675											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	250	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	8253437	13696452	121838295	748	124676											
FAM171A1	221061	broad.mit.edu	37	chr10	15255359	15255359	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggttcattcatatctacgCcagagtccaaactggcatca	7	11	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:15255359C>A	uc001iob.2	-	8	2235	c.2228G>T	c.(2227-2229)GGC>GTC	p.G743V		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	743	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CATATCTACGCCAGAGTCCAA	0.507													A	15255359	C	A	15255359	3	1	250	1	0	0	0	0	1	0	0	0	5490	739	26	5	448	5	FAM171A1	10	15255359	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1558907	15255359	120279388	749	124677											
MLLT10	8028	broad.mit.edu	37	chr10	21962783	21962785	+	In_Frame_Del	DEL	CTC	CTC	-													aagctctagtctgcagaaatCtcctacattgctcaggaatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:21962782_21962784TCTC>T	uc021pny.1	+	9	1555_1557	c.1555_1557TCTC>T	c.(1555-1557)tct>T	p.S519del	MLLT10_uc001iqs.3_In_Frame_Del_p.S519del|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_In_Frame_Del_p.S519del|MLLT10_uc001ira.3_5'UTR|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	519	DNA-binding.				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						TCTGCAGAAATCTCCTACATTGC	0.424			T	"MLL, PICALM, CDK6"	AL								-	21962785	CTC	-	21962783	7	5	250	1	0	1	0	1	0	0	0	0	9626	913	32	0	1594	0	MLLT10	10	21962783	In_Frame_Del	DEL	CTC	TCGA-HF-7132-01A-11D-2053-08	6707424	21962783	113571964	750	124678											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909067	24909067	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttagatctggtggaAtttttttaaactgcgacaca	8	5	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:24909067A>T	uc001isb.2	-	9	2244	c.1757T>A	c.(1756-1758)ATT>AAT	p.I586N	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.I586N|ARHGAP21_uc010qdc.1_Missense_Mutation_p.I421N|ARHGAP21_uc001isc.1_Missense_Mutation_p.I576N	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	585					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						ATCTGGTGGAATTTTTTTAAA	0.423													T	24909067	A	T	24909067	3	4	250	1	0	0	0	0	1	0	0	0	871	101	4	5	4191	5	ARHGAP21	10	24909067	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2946284	24909067	110625680	751	124679											
WAC	51322	broad.mit.edu	37	chr10	28905168	28905168	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgcatcaaatgcaacAgttgtaccacagaattcttc	6	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:28905168A>G	uc001iuf.2	+	12	1708	c.1623A>G	c.(1621-1623)ACA>ACG	p.T541T	WAC_uc001iud.2_Silent_p.T496T|WAC_uc001iue.2_Silent_p.T231T|WAC_uc001iug.2_Silent_p.T438T|WAC_uc001iuh.2_Silent_p.T492T	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	541					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			large_intestine(1)|ovary(1)	2						CAAATGCAACAGTTGTACCAC	0.408													G	28905168	A	G	28905168	2	3	250	1	0	0	0	0	0	0	0	1	17244	175	7	3		3	WAC	10	28905168	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3996101	28905168	106629579	752	124680											
KIAA1462	57608	broad.mit.edu	37	chr10	30316027	30316027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaacttccgagggaccGcttcacttggtttcacagag	10	11	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:30316027G>A	uc001iux.2	-	2	3109	c.3050C>T	c.(3049-3051)GCG>GTG	p.A1017V	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A879V|KIAA1462_uc009xle.1_Missense_Mutation_p.A1017V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1017										ovary(4)	4						CCGAGGGACCGCTTCACTTGG	0.572													A	30316027	G	A	30316027	3	1	250	1	0	0	0	0	1	0	0	0	8234	1087	38	1	1037	1	KIAA1462	10	30316027	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1410859	30316027	105218720	753	124681											
RBP3	5949	broad.mit.edu	37	chr10	48388083	48388083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaccttggcacgcagaGccactatgtcctgggctatg	13	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:48388083G>A	uc001jez.2	-	1	2909	c.2795C>T	c.(2794-2796)GCT>GTT	p.A932V		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	932	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGCACGCAGAGCCACTATGTC	0.627													A	48388083	G	A	48388083	3	1	250	1	0	0	0	0	1	0	0	0	13157	971	34	2	964	2	RBP3	10	48388083	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	18072056	48388083	87146664	754	124682											
RBP3	5949	broad.mit.edu	37	chr10	48389980	48389980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacacagggcagcacccCgctgccctcccacgtctggc	9	22	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:48389980C>T	uc001jez.2	-	1	1012	c.898G>A	c.(898-900)GGG>AGG	p.G300R		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	300	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GGCAGCACCCCGCTGCCCTCC	0.677													T	48389980	C	T	48389980	3	4	250	1	0	0	0	0	1	0	0	0	13157	652	23	1	2861	1	RBP3	10	48389980	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1897	48389980	87144767	755	124683											
OGDHL	55753	broad.mit.edu	37	chr10	50945994	50945994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggacggagactcaccGgcttgcggaagggcagcagg	17	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:50945994G>A	uc001jie.2	-	19	2658	c.2516C>T	c.(2515-2517)CCG>CTG	p.P839L	OGDHL_uc009xog.2_Missense_Mutation_p.P866L|OGDHL_uc010qgt.1_Missense_Mutation_p.P782L|OGDHL_uc010qgu.1_Missense_Mutation_p.P630L	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	839					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GAGACTCACCGGCTTGCGGAA	0.632													A	50945994	G	A	50945994	3	1	250	1	0	0	0	0	1	0	0	0	10840	1130	39	1	536	1	OGDHL	10	50945994	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2556014	50945994	84588753	756	124684											
AGAP7	653268	broad.mit.edu	37	chr10	51465266	51465266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggcttcaaagtgccacGtttggccagtggcagacaca	12	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:51465266G>A	uc001jio.2	-	7	1316	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	397	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						AAAGTGCCACGTTTGGCCAGT	0.522													A	51465266	G	A	51465266	3	1	250	1	0	0	0	0	1	0	0	0	373	1145	40	1	805	1	AGAP7	10	51465266	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	519272	51465266	84069481	757	124685											
SIRT1	23411	broad.mit.edu	37	chr10	69647248	69647248	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgaggaggatagagcCtcacatgcaagctctagtga	13	7	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:69647248C>A	uc001jnd.2	+	2	557	c.504C>A	c.(502-504)GCC>GCA	p.A168A	SIRT1_uc010qis.1_5'UTR|SIRT1_uc009xpp.2_5'UTR	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	168	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						AGGATAGAGCCTCACATGCAA	0.398													A	69647248	C	A	69647248	2	1	250	1	0	0	0	0	0	0	0	1	14337	668	24	5		5	SIRT1	10	69647248	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	18181982	69647248	65887499	758	124686											
HERC4	26091	broad.mit.edu	37	chr10	69692445	69692445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaggacttttcctccaCagaccttatgaaagcccgca	8	13	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:69692445C>T	uc001jng.3	-	24	3082	c.2771G>A	c.(2770-2772)TGT>TAT	p.C924Y	HERC4_uc009xpq.2_Missense_Mutation_p.C456Y|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.C916Y|HERC4_uc009xpr.2_Missense_Mutation_p.C846Y|HERC4_uc001jni.3_Missense_Mutation_p.C660Y	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	924	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TTTTCCTCCACAGACCTTATG	0.388													T	69692445	C	T	69692445	3	4	250	1	0	0	0	0	1	0	0	0	7060	478	17	4	414	4	HERC4	10	69692445	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	45197	69692445	65842302	759	124687											
MYPN	84665	broad.mit.edu	37	chr10	69934351	69934351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttcctcagctctgttctGccttctctccctgccatccc	5	19	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:69934351G>A	uc001jnm.3	+	12	2687	c.2502G>A	c.(2500-2502)CTG>CTA	p.L834L	MYPN_uc001jnn.3_Silent_p.L559L|MYPN_uc001jno.3_Silent_p.L834L|MYPN_uc009xpt.2_Silent_p.L834L|MYPN_uc010qit.1_Silent_p.L540L|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	834	Pro-rich.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						GCTCTGTTCTGCCTTCTCTCC	0.537													A	69934351	G	A	69934351	2	1	250	1	0	0	0	0	0	0	0	1	10098	1306	46	2		2	MYPN	10	69934351	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	241906	69934351	65600396	760	124688											
CCAR1	55749	broad.mit.edu	37	chr10	70513779	70513780	+	Frame_Shift_Ins	INS	-	-	A													agagaagtagagtccttagaINSaaaaaatatggccattcttg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:70513778_70513779G>GA	uc001joo.3	+	10	1407_1408	c.1288_1289G>GA	c.(1288-1290)gaafs	p.E430fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Ins_p.E235fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.E404fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.E376fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	430					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						AGAGTCCTTAGAAAAAAATATG	0.381													A	70513780	-	A	70513779	7	5	250	1	0	1	1	0	0	0	0	0	2730	246	9	0	1327	0	CCAR1	10	70513779	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	579428	70513779	65020968	761	124689											
STOX1	219736	broad.mit.edu	37	chr10	70645650	70645650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattattgagaaaaggatttGtccaggatgcagagactaca	10	5	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:70645650G>A	uc001jos.2	+	3	2185	c.2098G>A	c.(2098-2100)GTC>ATC	p.V700I	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.V590I	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	700						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						AAAAGGATTTGTCCAGGATGC	0.423													A	70645650	G	A	70645650	3	1	250	1	0	0	0	0	1	0	0	0	15318	1377	48	4	2108	4	STOX1	10	70645650	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	131871	70645650	64889097	762	124690											
CDH23	64072	broad.mit.edu	37	chr10	73405682	73405682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggaaggcggacattcGtattcgggtggccatcccac	14	12	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:73405682G>A	uc001jrx.3	+	12	1612	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	CDH23_uc001jrw.3_Missense_Mutation_p.R412H|CDH23_uc001jry.2_Missense_Mutation_p.R28H|CDH23_uc001jrz.2_Missense_Mutation_p.R28H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	412	Cadherin 4.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCGGACATTCGTATTCGGGTG	0.587													A	73405682	G	A	73405682	3	1	250	1	0	0	0	0	1	0	0	0	3108	1145	40	1	1364	1	CDH23	10	73405682	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2760032	73405682	62129065	763	124691											
CHCHD1	118487	broad.mit.edu	37	chr10	75541891	75541891	+	Frame_Shift_Del	DEL	G	G	-													ttgggaacccgcggaagcctGtgctgaagcccaataaacct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:75541890_75541890TG>T	uc001jvc.4	+	0	83	c.57_57TG>T	c.(55-57)cctfs	p.P19fs	CHCHD1_uc001jvb.2_Frame_Shift_Del_p.P19fs	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1), mRNA.	19						nucleus				breast(1)	1	Prostate(51;0.0112)					CGCGGAAGCCTGTGCTGAAGC	0.677													-	75541891	G	-	75541891	7	5	250	1	0	1	0	1	0	0	0	0	3314	1377	48	0	60	0	CHCHD1	10	75541891	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	2136209	75541891	59992856	764	124692											
DLG5	9231	broad.mit.edu	37	chr10	79576336	79576336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgctccccgagggacGcggggttgacagcgattctg	14	13	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:79576336G>A	uc001jzk.2	-	20	4068	c.3998C>T	c.(3997-3999)GCG>GTG	p.A1333V	DLG5_uc001jzi.2_Missense_Mutation_p.A88V|DLG5_uc001jzj.2_Missense_Mutation_p.A748V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A937V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1333					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			ovary(5)|breast(3)	8	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)			CCCGAGGGACGCGGGGTTGAC	0.627													A	79576336	G	A	79576336	3	1	250	1	0	0	0	0	1	0	0	0	4558	1087	38	1	1813	1	DLG5	10	79576336	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4034445	79576336	55958411	765	124693											
NRG3	10718	broad.mit.edu	37	chr10	83635280	83635280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgactgcatcgtgtggaacCggcagcagacgtggctgtgc	16	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:83635280C>T	uc001kco.2	+	1	211	c.184C>T	c.(184-186)CGG>TGG	p.R62W	NRG3_uc010qlz.1_Missense_Mutation_p.R62W|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	62	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CGTGTGGAACCGGCAGCAGAC	0.493													T	83635280	C	T	83635280	3	4	250	1	0	0	0	0	1	0	0	0	10649	643	23	1	186	1	NRG3	10	83635280	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4058944	83635280	51899467	766	124694											
GRID1	2894	broad.mit.edu	37	chr10	87484278	87484278	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaatgcaggcccacacagcGaaatcaaatggagcaaagag	11	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:87484278G>A	uc001kdl.1	-	11	1790	c.1689C>T	c.(1687-1689)TTC>TTT	p.F563F	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.F134F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	563	Helical; (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CCCACACAGCGAAATCAAATG	0.507										Multiple Myeloma(13;0.14)			A	87484278	G	A	87484278	2	1	250	1	0	0	0	0	0	0	0	1	6771	1049	37	1		1	GRID1	10	87484278	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3848998	87484278	48050469	767	124695											
MMRN2	79812	broad.mit.edu	37	chr10	88705369	88705369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcggacacggctgctgcGagtggatgaggaatttctct	14	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:88705369G>A	uc001kea.2	-	2	369	c.242C>T	c.(241-243)TCG>TTG	p.S81L	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Intron	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	81	EMI.					extracellular space				large_intestine(1)	1						CGGCTGCTGCGAGTGGATGAG	0.562													A	88705369	G	A	88705369	3	1	250	1	0	0	0	0	1	0	0	0	9671	1059	37	1	2631	1	MMRN2	10	88705369	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1221091	88705369	46829378	768	124696											
FAM22A	728118	broad.mit.edu	37	chr10	88985930	88985930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaactgccagacagcgGtggtcagtgcccagcctgag	15	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:88985930G>A	uc001kek.2	+	1	726	c.343G>A	c.(343-345)GTG>ATG	p.V115M	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	115											0						CCAGACAGCGGTGGTCAGTGC	0.532													A	88985930	G	A	88985930	3	1	250	1	0	0	0	0	1	0	0	0	5543	1261	44	4	345	4	FAM22A	10	88985930	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	280561	88985930	46548817	769	124697											
LIPF	8513	broad.mit.edu	37	chr10	90428385	90428385	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactggatttccaacctgccGaacaacagccttgccttcat	6	14	1	0	rs140420172		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:90428385G>A	uc001kfg.1	+	4	460	c.294G>A	c.(292-294)CCG>CCA	p.P98P	LIPF_uc009xtk.2_Silent_p.P98P|LIPF_uc001kfh.1_Intron|LIPF_uc010qmt.1_Silent_p.P108P|LIPF_uc010qmu.1_Intron	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	98					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CCAACCTGCCGAACAACAGCC	0.453													A	90428385	G	A	90428385	2	1	250	1	0	0	0	0	0	0	0	1	8822	1045	37	1		1	LIPF	10	90428385	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1442455	90428385	45106362	770	124698											
BTAF1	9044	broad.mit.edu	37	chr10	93784688	93784688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttgagattagatggcaGcatacctcctggtcagaggc	11	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:93784688G>A	uc001khr.2	+	35	5137	c.5039G>A	c.(5038-5040)AGC>AAC	p.S1680N		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1680	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TTAGATGGCAGCATACCTCCT	0.388													A	93784688	G	A	93784688	3	1	250	1	0	0	0	0	1	0	0	0	1536	971	34	2	5177	2	BTAF1	10	93784688	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3356303	93784688	41750059	771	124699											
CYP26A1	1592	broad.mit.edu	37	chr10	94834191	94834191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttgctcggagagcacCggctggtgtcggtccactgg	15	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:94834191C>T	uc001kil.2	+	2	361	c.316C>T	c.(316-318)CGG>TGG	p.R106W	CYP26A1_uc001kik.1_Missense_Mutation_p.R37W|CYP26A1_uc001kim.1_Silent_p.T10T	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	106					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CGGAGAGCACCGGCTGGTGTC	0.622													T	94834191	C	T	94834191	3	4	250	1	0	0	0	0	1	0	0	0	4155	643	23	1	322	1	CYP26A1	10	94834191	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1049503	94834191	40700556	772	124700											
MYOF	26509	broad.mit.edu	37	chr10	95113648	95113649	+	Splice_Site	INS	-	-	A													atggtagatgtagactcctaINSaaaaaacaggataaagatta							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:95113647_95113648T>TA	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				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						TGTAGACTCCTAAAAAAACAGG	0.347													A	95113649	-	A	95113648	8	5	250	1	0	1	1	0	0	0	1	0	10089	377	13	0		0	MYOF	10	95113648	Splice_Site	INS	-	TCGA-HF-7132-01A-11D-2053-08	279457	95113648	40421099	773	124701											
SORBS1	10580	broad.mit.edu	37	chr10	97078078	97078079	+	Splice_Site	INS	-	-	A													gcatgatgagattcttaccaINSacaaaccatccatcgtcaca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:97078077_97078078C>CA	uc001kkp.3	-	30	3856	c.3811_splice	c.e30+1	p.G1271_splice	SORBS1_uc001kkk.3_Splice_Site_p.G527_splice|SORBS1_uc001kkl.3_Splice_Site_p.G615_splice|SORBS1_uc001kkn.3_Splice_Site_p.G778_splice|SORBS1_uc001kkm.3_Splice_Site_p.G813_splice|SORBS1_uc001kko.3_Splice_Site_p.G1130_splice|SORBS1_uc001kkq.3_Splice_Site_p.G884_splice|SORBS1_uc001kkr.3_Splice_Site_p.G719_splice|SORBS1_uc001kks.3_Splice_Site_p.G663_splice|SORBS1_uc001kkt.3_Splice_Site|SORBS1_uc001kku.3_Splice_Site_p.G760_splice|SORBS1_uc001kkv.3_Splice_Site_p.G795_splice|SORBS1_uc001kkw.3_Splice_Site_p.G1245_splice|SORBS1_uc010qoe.2_Splice_Site_p.G728_splice	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1271	SH3 3.				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	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			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)		AGATTCTTACCAACAAACCATC	0.406													A	97078079	-	A	97078078	8	5	250	1	0	1	1	0	0	0	1	0	14927	144	5	0	76	0	SORBS1	10	97078078	Splice_Site	INS	-	TCGA-HF-7132-01A-11D-2053-08	1964430	97078078	38456669	774	124702											
SLIT1	6585	broad.mit.edu	37	chr10	98803215	98803215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaggagccggacgttgcGcaggcccgtgaagctgtcgt	17	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:98803215G>A	uc001kmw.2	-	19	2161	c.1909C>T	c.(1909-1911)CGC>TGC	p.R637C	SLIT1_uc009xvh.1_Missense_Mutation_p.R647C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	637					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			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGGACGTTGCGCAGGCCCGTG	0.642													A	98803215	G	A	98803215	3	1	250	1	0	0	0	0	1	0	0	0	14739	1087	38	1	2771	1	SLIT1	10	98803215	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1725137	98803215	36731532	775	124703											
RRP12	23223	broad.mit.edu	37	chr10	99130743	99130743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcttcaggtcctccagGtggctctgcacgaagagggc	13	12	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:99130743G>A	uc001knf.2	-	21	2578	c.2439C>T	c.(2437-2439)CAC>CAT	p.H813H	RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Silent_p.H531H|RRP12_uc010qou.1_Silent_p.H752H|RRP12_uc009xvn.2_Silent_p.H713H	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	813						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGTCCTCCAGGTGGCTCTGCA	0.677													A	99130743	G	A	99130743	2	1	250	1	0	0	0	0	0	0	0	1	13686	1252	44	4		4	RRP12	10	99130743	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	327528	99130743	36404004	776	124704											
NKX2-3	159296	broad.mit.edu	37	chr10	101292889	101292889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacaattaagtggccctgAtgatgttaccaagcccggtc	11	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:101292889A>G	uc009xwj.2	+	1	200	c.1A>G	c.(1-3)ATG>GTG	p.M1V	uc001kps.1_5'Flank	NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	1						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		AGTGGCCCTGATGATGTTACC	0.597													G	101292889	A	G	101292889	3	3	250	1	0	0	0	0	1	0	0	0	10451	333	12	3	3	3	NKX2-3	10	101292889	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2162146	101292889	34241858	777	124705											
DNMBP	23268	broad.mit.edu	37	chr10	101643927	101643927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggggatacctggccaggaGggaggcccggagttcttctg	18	9	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:101643927G>T	uc001kqj.2	-	15	3930	c.3838C>A	c.(3838-3840)CTC>ATC	p.L1280I	DNMBP_uc010qpl.1_Missense_Mutation_p.L216I|DNMBP_uc001kqg.2_Missense_Mutation_p.L568I|DNMBP_uc001kqh.2_Missense_Mutation_p.L912I	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1280					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGGCCAGGAGGGAGGCCCGG	0.502													T	101643927	G	T	101643927	3	4	250	1	0	0	0	0	1	0	0	0	4674	1000	35	5	907	5	DNMBP	10	101643927	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	351038	101643927	33890820	778	124706											
PKD2L1	9033	broad.mit.edu	37	chr10	102055890	102055890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtaccttgatccaggCgaagaagaggttgacagcat	12	10	0	4	rs149093514	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:102055890C>T	uc001kqx.1	-	7	1728	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	PKD2L1_uc009xwm.1_Missense_Mutation_p.A402T	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	449	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TTGATCCAGGCGAAGAAGAGG	0.433													T	102055890	C	T	102055890	3	4	250	1	0	0	0	0	1	0	0	0	11967	768	27	1	1112	1	PKD2L1	10	102055890	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	411963	102055890	33478857	779	124707											
PPRC1	23082	broad.mit.edu	37	chr10	103899081	103899081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgtgagcagtatcccGgacttccccatgcatttggc	10	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:103899081G>A	uc001kum.2	+	5	855	c.816G>A	c.(814-816)CCG>CCA	p.P272P	PPRC1_uc001kun.2_Silent_p.P152P|PPRC1_uc010qqj.1_Silent_p.P272P|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCAGTATCCCGGACTTCCCCA	0.577													A	103899081	G	A	103899081	2	1	250	1	0	0	0	0	0	0	0	1	12410	1103	39	1		1	PPRC1	10	103899081	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1843191	103899081	31635666	780	124708											
GBF1	8729	broad.mit.edu	37	chr10	104128502	104128502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaacattacaggaagtgCgccatgatctccgcccacta	10	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:104128502C>T	uc001kux.1	+	23	3123	c.2883C>T	c.(2881-2883)TGC>TGT	p.C961C	GBF1_uc001kuy.1_Silent_p.C961C|GBF1_uc001kuz.1_Silent_p.C962C	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	961					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACAGGAAGTGCGCCATGATCT	0.537													T	104128502	C	T	104128502	2	4	250	1	0	0	0	0	0	0	0	1	6271	776	27	1		1	GBF1	10	104128502	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	229421	104128502	31406245	781	124709											
PSD	5662	broad.mit.edu	37	chr10	104173625	104173625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctggcctctgcctccTcctcctcccctctctgtgtc	7	20	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:104173625T>C	uc001kvg.1	-	5	1981	c.1454A>G	c.(1453-1455)GAG>GGG	p.E485G	PSD_uc001kvh.1_Missense_Mutation_p.E106G|PSD_uc009xxd.1_Missense_Mutation_p.E485G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	485	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTCTGCCTCCTCCTCCTCCCC	0.677													C	104173625	T	C	104173625	3	2	250	1	0	0	0	0	1	0	0	0	12646	1551	54	3	1672	3	PSD	10	104173625	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	45123	104173625	31361122	782	124710											
GPAM	57678	broad.mit.edu	37	chr10	113920453	113920454	+	Frame_Shift_Ins	INS	-	-	A													cagttgtgctgggggtgataINSaaaaactcatcgttcctgct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:113920452_113920453T>TA	uc009xxy.2	-	15	1878_1879	c.1668_1669A>TA	c.(1666-1671)tttatcfs	p.F556fs	GPAM_uc001kzp.3_Frame_Shift_Ins_p.F556fs|GPAM_uc001kzq.1_Frame_Shift_Ins_p.F556fs	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	556					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)		CTGGGGGTGATAAAAAACTCAT	0.45													A	113920454	-	A	113920453	7	5	250	1	0	1	1	0	0	0	0	0	6588	359	13	0	846	0	GPAM	10	113920453	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	9746828	113920453	21614294	783	124711											
GPAM	57678	broad.mit.edu	37	chr10	113928224	113928224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttttccactcctagaaCgtgtgccttccaggaagatc	9	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:113928224C>T	uc009xxy.1	-	11	1151	c.953G>A	c.(952-954)CGT>CAT	p.R318H	GPAM_uc001kzp.2_Missense_Mutation_p.R318H|GPAM_uc001kzq.1_Missense_Mutation_p.R318H	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	318					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		ACTCCTAGAACGTGTGCCTTC	0.418													T	113928224	C	T	113928224	3	4	250	1	0	0	0	0	1	0	0	0	6588	536	19	1	1581	1	GPAM	10	113928224	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7771	113928224	21606523	784	124712											
C10orf46	143384	broad.mit.edu	37	chr10	120489879	120489879	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcaccatccaattttggCcagtatgtgctcttataatc	7	10	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:120489879C>T	uc001lds.1	-	2	895	c.411G>A	c.(409-411)TGG>TGA	p.W137*	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	137					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CCAATTTTGGCCAGTATGTGC	0.323													T	120489879	C	T	120489879	4	4	250	1	0	0	0	0	0	1	0	0	1604	740	26	2	730	2	C10orf46	10	120489879	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6561655	120489879	15044868	785	124713											
TACC2	10579	broad.mit.edu	37	chr10	123970691	123970692	+	Frame_Shift_Ins	INS	-	-	G													ggtaaccccatcggatagcgINSgggggcaagaggactctcca					rs148585687	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:123970690_123970691C>CG	uc001lfv.3	+	8	7110_7111	c.6750_6751C>CG	c.(6748-6753)agcgggfs	p.S2250fs	TACC2_uc001lfw.3_Frame_Shift_Ins_p.S396fs|TACC2_uc009xzx.3_Frame_Shift_Ins_p.S2205fs|TACC2_uc010qtv.2_Frame_Shift_Ins_p.S2254fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Ins_p.S328fs|TACC2_uc001lga.3_Frame_Shift_Ins_p.S328fs|TACC2_uc009xzy.3_Frame_Shift_Ins_p.S328fs|TACC2_uc001lgb.3_Frame_Shift_Ins_p.S285fs|TACC2_uc010qtw.1_Frame_Shift_Ins_p.S345fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2250						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)				CATCGGATAGCGGGGGGCAAGA	0.599													G	123970692	-	G	123970691	7	5	250	1	0	1	1	0	0	0	0	0	15499	1116	39	0	6853	0	TACC2	10	123970691	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	3480812	123970691	11564056	786	124714											
PSTK	118672	broad.mit.edu	37	chr10	124746902	124746902	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcaaagatgggtaagagcGaaccatgcagctatctggag	13	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:124746902G>A	uc001lgy.1	+	6	1370	c.930G>A	c.(928-930)GCG>GCA	p.A310A		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	310							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		gggtaagagcgaaccatgcag	0													A	124746902	G	A	124746902	2	1	250	1	0	0	0	0	0	0	0	1	12720	1045	37	1		1	PSTK	10	124746902	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	776211	124746902	10787845	787	124715											
CHST15	51363	broad.mit.edu	37	chr10	125769742	125769742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggcctgtagaaatcccGcagaatcttctgtgtgatgg	13	8	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:125769742G>A	uc001lhl.2	-	7	2122	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	CHST15_uc001lhm.2_Missense_Mutation_p.R537W|CHST15_uc001lhn.2_Missense_Mutation_p.R537W	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	537	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						TAGAAATCCCGCAGAATCTTC	0.602													A	125769742	G	A	125769742	3	1	250	1	0	0	0	0	1	0	0	0	3403	1086	38	1	80	1	CHST15	10	125769742	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1022840	125769742	9765005	788	124716											
PTPRE	5791	broad.mit.edu	37	chr10	129868017	129868017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgatggccatgatgcacGcggagcagaaggtggatgtg	16	8	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:129868017G>A	uc001lkb.2	+	13	1348	c.1069G>A	c.(1069-1071)GCG>ACG	p.A357T	PTPRE_uc009yat.2_Missense_Mutation_p.A368T|PTPRE_uc009yau.2_Missense_Mutation_p.A357T|PTPRE_uc001lkd.2_Missense_Mutation_p.A299T|PTPRE_uc010quq.1_Missense_Mutation_p.A258T	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	357	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			ovary(1)	1		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)				CATGATGCACGCGGAGCAGAA	0.552											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	129868017	G	A	129868017	3	1	250	1	0	0	0	0	1	0	0	0	12800	1087	38	1	1150	1	PTPRE	10	129868017	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4098275	129868017	5666730	789	124717											
MKI67	4288	broad.mit.edu	37	chr10	129907238	129907238	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacattggtgcacatttctGcccccaagttcttgatctct	7	12	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:129907238G>A	uc001lke.2	-	13	3061	c.2866C>T	c.(2866-2868)CAG>TAG	p.Q956*	MKI67_uc001lkf.2_Nonsense_Mutation_p.Q596*|MKI67_uc009yav.1_Nonsense_Mutation_p.Q531*|MKI67_uc009yaw.1_Nonsense_Mutation_p.Q106*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	956					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				GCACATTTCTGCCCCCAAGTT	0.413													A	129907238	G	A	129907238	4	1	250	1	0	0	0	0	0	1	0	0	9598	1328	46	2	6916	2	MKI67	10	129907238	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	39221	129907238	5627509	790	124718											
INPP5A	3632	broad.mit.edu	37	chr10	134591262	134591262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcatcctcatgtccccGtctgccaaggagctggtgct	11	15	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:134591262G>A	uc001llp.2	+	13	1313	c.1065G>A	c.(1063-1065)CCG>CCA	p.P355P	INPP5A_uc001llo.1_Silent_p.P355P|INPP5A_uc001llq.2_Silent_p.P250P	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	355					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			skin(1)	1		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)		TCATGTCCCCGTCTGCCAAGG	0.662													A	134591262	G	A	134591262	2	1	250	1	0	0	0	0	0	0	0	1	7754	1132	40	1		1	INPP5A	10	134591262	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4684024	134591262	943485	791	124719											
PAOX	196743	broad.mit.edu	37	chr10	135193657	135193657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgtgggcctgccctcCgtgagctacgccagctccgg	14	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr10:135193657C>T	uc001lmv.2	+	2	416	c.336C>T	c.(334-336)TCC>TCT	p.S112S	PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Silent_p.S112S|PAOX_uc001lmy.2_Silent_p.S112S|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_Intron|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	250					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		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)		GCCTGCCCTCCGTGAGCTACG	0.672													T	135193657	C	T	135193657	2	4	250	1	0	0	0	0	0	0	0	1	11423	639	23	1		1	PAOX	10	135193657	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	602395	135193657	341090	792	124720											
PSMD13	5719	broad.mit.edu	37	chr11	239045	239045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgattttgtgcaggatcCgtgctttgcccaaggagatg	13	8	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:239045C>T	uc001lol.2	+	2	385	c.143C>T	c.(142-144)CCG>CTG	p.P48L	SIRT3_uc001loj.3_5'Flank|SIRT3_uc001lok.3_5'Flank|SIRT3_uc010qvm.1_5'Flank|SIRT3_uc010qvn.1_5'Flank|SIRT3_uc010qvo.1_5'Flank|SIRT3_uc010qvp.1_5'Flank|SIRT3_uc010qvq.1_5'Flank|SIRT3_uc009ybt.1_5'Flank|PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Intron|PSMD13_uc001lon.2_5'UTR|PSMD13_uc001lom.2_5'UTR	NM_002817	NP_002808	Q9UNM6	PSD13_HUMAN	proteasome 26S non-ATPase subunit 13 isoform 1	48					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			ovary(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GTGCAGGATCCGTGCTTTGCC	0.403													T	239045	C	T	239045	3	4	250	1	0	0	0	0	1	0	0	0	12696	652	23	1	149	1	PSMD13	11	239045	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08		239045	134767471	793	124721											
RASSF7	8045	broad.mit.edu	37	chr11	561891	561891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgcactagcccaagcaatAggtgagtcctctcggggtca	11	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:561891A>G	uc001lqc.2	+	2	158	c.123A>G	c.(121-123)ATA>ATG	p.I41M	C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.I41M|RASSF7_uc001lqb.2_Missense_Mutation_p.I41M|RASSF7_uc001lqd.2_Missense_Mutation_p.I41M	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family	41	Ras-associating.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			skin(1)	1		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)		CCCAAGCAATAGGTGAGTCCT	0.622													G	561891	A	G	561891	3	3	250	1	0	0	0	0	1	0	0	0	13091	434	15	3	125	3	RASSF7	11	561891	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	322846	561891	134444625	794	124722											
MUC2	4583	broad.mit.edu	37	chr11	1101020	1101020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacttcgagttcgactgCaagaactgtgtctgcctgga	12	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1101020C>T	uc001lsx.1	+	44	14532	c.14505C>T	c.(14503-14505)TGC>TGT	p.C4835C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4835	VWFC 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	AGTTCGACTGCAAGAACTGTG	0.607													T	1101020	C	T	1101020	2	4	250	1	0	0	0	0	0	0	0	1	9975	718	25	2		2	MUC2	11	1101020	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	539129	1101020	133905496	795	124723											
MUC5B	727897	broad.mit.edu	37	chr11	1269737	1269737	+	Frame_Shift_Del	DEL	C	C	-													aaccacgggcttcacagtcaCcccctcctccagcccaggga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1269736_1269736AC>A	uc001lta.3	+	30	11685	c.11626_11626AC>A	c.(11626-11628)accfs	p.T3876fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3876	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)		CTTCACAGTCACCCCCTCCTC	0.647													-	1269737	C	-	1269737	7	5	250	1	0	1	0	1	0	0	0	0	9979	507	18	0	11758	0	MUC5B	11	1269737	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	168717	1269737	133736779	796	124724											
MUC5B	727897	broad.mit.edu	37	chr11	1272662	1272662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggatcctcacagagcCgagcactatagccaccgtga	9	15	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1272662C>T	uc009ycr.1	+	52	15644	c.15518C>T	c.(15517-15519)CCG>CTG	p.P5173L	MUC5B_uc001ltb.2_Missense_Mutation_p.P4854L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4851	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CTCACAGAGCCGAGCACTATA	0.627													T	1272662	C	T	1272662	3	4	250	1	0	0	0	0	1	0	0	0	9979	652	23	1	14683	1	MUC5B	11	1272662	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2925	1272662	133733854	797	124725											
MUC5B	727897	broad.mit.edu	37	chr11	1276035	1276035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgccctgggcgtgagcGtcaccttcaatggccaagtc	11	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1276035G>A	uc009ycr.1	+	57	16726	c.16600G>A	c.(16600-16602)GTC>ATC	p.V5534I	MUC5B_uc001ltb.2_Missense_Mutation_p.V5200I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5197	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GGGCGTGAGCGTCACCTTCAA	0.637													A	1276035	G	A	1276035	3	1	250	1	0	0	0	0	1	0	0	0	9979	1145	40	1	15736	1	MUC5B	11	1276035	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3373	1276035	133730481	798	124726											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606106	1606106	+	Frame_Shift_Del	DEL	C	C	-													cacagcagctggagccacatCccccacagccggaaccacag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:1606105_1606105TC>T	uc001ltu.1	-	0	409	c.375_375GA>A	c.(373-375)ggafs	p.G125fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	125	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)		TGGAGCCACATCCCCCACAGC	0.652													-	1606106	C	-	1606106	7	5	250	1	0	1	0	1	0	0	0	0	8558	855	30	0	466	0	KRTAP5-1	11	1606106	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	330071	1606106	133400410	799	124727											
ART5	116969	broad.mit.edu	37	chr11	3660980	3660980	+	Frame_Shift_Del	DEL	G	G	-													ggtaaccaaaaagacttcatGggggggaatcagcacctcgc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:3660979_3660979TG>T	uc001lyb.1	-	1	1073	c.680_680CA>A	c.(679-681)catfs	p.H227fs	ART5_uc001lyc.1_Frame_Shift_Del_p.H227fs|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	227						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAAT	0.502													-	3660980	G	-	3660980	7	5	250	1	0	1	0	1	0	0	0	0	1000	1348	47	0	208	0	ART5	11	3660980	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	2054874	3660980	131345536	800	124728											
PGAP2	27315	broad.mit.edu	37	chr11	3832493	3832493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtctgacaagatgTaccaggtcccactaccactg	8	15	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:3832493T>C	uc001lys.2	+	2	130	c.4T>C	c.(4-6)TAC>CAC	p.Y2H	PGAP2_uc001lyl.2_5'UTR|PGAP2_uc010qxw.1_Missense_Mutation_p.Y59H|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Silent_p.C13C|PGAP2_uc010qxy.1_Missense_Mutation_p.Y59H|PGAP2_uc010qxz.1_Missense_Mutation_p.Y59H|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Missense_Mutation_p.Y2H|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	2					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TGACAAGATGTACCAGGTCCC	0.597													C	3832493	T	C	3832493	3	2	250	1	0	0	0	0	1	0	0	0	11778	1638	57	3	185	3	PGAP2	11	3832493	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	171513	3832493	131174023	801	124729											
RHOG	391	broad.mit.edu	37	chr11	3848830	3848830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcccacgcttgatcggcGtggggttgagcacagcccgg	15	14	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:3848830G>A	uc001lyu.2	-	2	697	c.539C>T	c.(538-540)ACG>ATG	p.T180M		NM_001665	NP_001656	P84095	RHOG_HUMAN	ras homolog gene family, member G precursor	180					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTTGATCGGCGTGGGGTTGAG	0.632													A	3848830	G	A	3848830	3	1	250	1	0	0	0	0	1	0	0	0	13339	1145	40	1	40	1	RHOG	11	3848830	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	16337	3848830	131157686	802	124730											
OR52R1	119695	broad.mit.edu	37	chr11	4825181	4825181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtccccagtttgatcaCgaccgatggggtcaggatgc	14	10	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:4825181C>T	uc010qym.1	-	1	667	c.667G>A	c.(667-669)GTG>ATG	p.V223M		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		AGTTTGATCACGACCGATGGG	0.572													T	4825181	C	T	4825181	3	4	250	1	0	0	0	0	1	0	0	0	11131	536	19	1	520	1	OR52R1	11	4825181	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	976351	4825181	130181335	803	124731											
OR51G1	79324	broad.mit.edu	37	chr11	4944754	4944754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgaagaggtgtacaacGcggggcagatgttcaccaaa	13	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:4944754G>A	uc010qyr.1	-	1	816	c.816C>T	c.(814-816)CGC>CGT	p.R272R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTACAACGCGGGGCAGAT	0.498													A	4944754	G	A	4944754	2	1	250	1	0	0	0	0	0	0	0	1	11098	1074	38	1		1	OR51G1	11	4944754	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	119573	4944754	130061762	804	124732											
OR51B5	282763	broad.mit.edu	37	chr11	5364477	5364477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgggaaaagcaggccGcacttccaatctccctgtga	11	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:5364477G>A	uc001map.1	-	1	278	c.278C>T	c.(277-279)GCG>GTG	p.A93V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.A93V	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		AAAGCAGGCCGCACTTCCAAT	0.557													A	5364477	G	A	5364477	3	1	250	1	0	0	0	0	1	0	0	0	11091	1087	38	1	664	1	OR51B5	11	5364477	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	419723	5364477	129642039	805	124733											
DNHD1	144132	broad.mit.edu	37	chr11	6593053	6593053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacctgccagccccagCcgacctgactgtgtactcgt	10	16	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:6593053C>T	uc001mdw.3	+	43	14663	c.14099C>T	c.(14098-14100)GCC>GTC	p.A4700V	DNHD1_uc001mea.3_Missense_Mutation_p.A969V|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.A968V|DNHD1_uc010rao.1_Missense_Mutation_p.A958V|DNHD1_uc009yfg.2_Missense_Mutation_p.A325V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4700					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		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)		CCAGCCCCAGCCGACCTGACT	0.632													T	6593053	C	T	6593053	3	4	250	1	0	0	0	0	1	0	0	0	4668	739	26	2	14270	2	DNHD1	11	6593053	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1228576	6593053	128413463	806	124734											
STK33	65975	broad.mit.edu	37	chr11	8478889	8478889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggataaccctcttcttaccAttattgtgaagatatgctat	6	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:8478889A>G	uc001mgi.1	-	5	1615	c.696T>C	c.(694-696)AAT>AAC	p.N232N	STK33_uc001mgj.1_Silent_p.N232N|STK33_uc001mgk.1_Silent_p.N232N|STK33_uc010rbn.1_Silent_p.N191N|STK33_uc001mgl.3_Silent_p.N45N|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	232	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCTTCTTACCATTATTGTGAA	0.363													G	8478889	A	G	8478889	2	3	250	1	0	0	0	0	0	0	0	1	15299	231	8	3		3	STK33	11	8478889	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1885836	8478889	126527627	807	124735											
CTR9	9646	broad.mit.edu	37	chr11	10800334	10800334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagaacaagtctggcagCgaggccggcagtccccggag	14	13	1	1	rs149166333		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:10800334C>T	uc001mja.2	+	25	3353	c.3204C>T	c.(3202-3204)AGC>AGT	p.S1068S		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	1068	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGTCTGGCAGCGAGGCCGGCA	0.557													T	10800334	C	T	10800334	2	4	250	1	0	0	0	0	0	0	0	1	4024	767	27	1		1	CTR9	11	10800334	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2321445	10800334	124206182	808	124736											
MICALCL	84953	broad.mit.edu	37	chr11	12316004	12316004	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagccctcctgaccctgcCctccgcacccacagtttgcc	6	20	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:12316004C>A	uc001mkg.1	+	3	1317	c.1026C>A	c.(1024-1026)GCC>GCA	p.A342A		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	342					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)		CTGACCCTGCCCTCCGCACCC	0.562													A	12316004	C	A	12316004	2	1	250	1	0	0	0	0	0	0	0	1	9572	610	22	5		5	MICALCL	11	12316004	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1515670	12316004	122690512	809	124737											
ABCC8	6833	broad.mit.edu	37	chr11	17482097	17482097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcccaaagatgcacagtgGcccggcgaagcccagcaggt	13	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:17482097G>A	uc001mnc.2	-	6	1075	c.949C>T	c.(949-951)CCA>TCA	p.P317S	ABCC8_uc010rcy.1_Missense_Mutation_p.P316S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	317	Helical; Name=6; (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ATGCACAGTGGCCCGGCGAAG	0.642													A	17482097	G	A	17482097	3	1	250	1	0	0	0	0	1	0	0	0	58	1203	42	2	3932	2	ABCC8	11	17482097	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5166093	17482097	117524419	810	124738											
IGSF22	283284	broad.mit.edu	37	chr11	18741301	18741301	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctctttgagcttccTgagcagcccccgaaagtcgg	9	14	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:18741301T>G	uc009yht.2	-	7	848	c.658A>C	c.(658-660)AGG>CGG	p.R220R	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	220	Lys-rich.									ovary(4)|large_intestine(2)|kidney(1)	7						TTGAGCTTCCTGAGCAGCCCC	0.512													G	18741301	T	G	18741301	2	3	250	1	0	0	0	0	0	0	0	1	7600	1579	55	5		5	IGSF22	11	18741301	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1259204	18741301	116265215	811	124739											
PTPN5	84867	broad.mit.edu	37	chr11	18764950	18764950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagatgtggccataaccGctgaaccagagcaccccaca	9	15	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:18764950G>A	uc001mpd.2	-	5	749	c.318C>T	c.(316-318)AGC>AGT	p.S106S	PTPN5_uc001mpb.2_Intron|PTPN5_uc001mpc.2_Silent_p.S106S|PTPN5_uc001mpe.2_Intron|PTPN5_uc010rdj.1_Intron|PTPN5_uc001mpf.2_Silent_p.S82S|PTPN5_uc010rdk.1_Silent_p.S51S	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	106						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGCCATAACCGCTGAACCAGA	0.612													A	18764950	G	A	18764950	2	1	250	1	0	0	0	0	0	0	0	1	12791	1078	38	1		1	PTPN5	11	18764950	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	23649	18764950	116241566	812	124740											
NELL1	4745	broad.mit.edu	37	chr11	21581797	21581797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgcctgcatcaacctgGcagggggctttgactgtctc	11	12	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:21581797G>A	uc001mqe.2	+	17	2002	c.1849G>A	c.(1849-1851)GCA>ACA	p.A617T	NELL1_uc001mqf.2_Missense_Mutation_p.A570T|NELL1_uc009yid.2_Missense_Mutation_p.A645T|NELL1_uc010rdo.1_Missense_Mutation_p.A560T|NELL1_uc010rdp.1_Missense_Mutation_p.A330T|NELL1_uc001mqh.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	617	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						CATCAACCTGGCAGGGGGCTT	0.527													A	21581797	G	A	21581797	3	1	250	1	0	0	0	0	1	0	0	0	10333	1203	42	2	1915	2	NELL1	11	21581797	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2816847	21581797	113424719	813	124741											
ANO5	203859	broad.mit.edu	37	chr11	22276925	22276925	+	Frame_Shift_Del	DEL	T	T	-													atttacctatagtcaccttaTttttggagttttggaaacaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:22276924_22276924AT>A	uc001mqi.2	+	12	1505	c.1188_1188AT>A	c.(1186-1188)ttafs	p.L396fs	ANO5_uc001mqj.2_Frame_Shift_Del_p.L395fs	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	396						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						TAGTCACCTTATTTTTGGAGT	0.348													-	22276925	T	-	22276925	7	5	250	1	0	1	0	1	0	0	0	0	700	1493	52	0	1239	0	ANO5	11	22276925	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	695128	22276925	112729591	814	124742											
SLC17A6	57084	broad.mit.edu	37	chr11	22363180	22363180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgcgactgcacgtgcTtcggcctgccccgccgctac	12	18	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:22363180T>C	uc001mqk.2	+	2	606	c.193T>C	c.(193-195)TTC>CTC	p.F65L		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	65	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CTGCACGTGCTTCGGCCTGCC	0.627													C	22363180	T	C	22363180	3	2	250	1	0	0	0	0	1	0	0	0	14421	1609	56	3	199	3	SLC17A6	11	22363180	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	86255	22363180	112643336	815	124743											
ANO3	63982	broad.mit.edu	37	chr11	26681924	26681924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaaatgatgtatgaggCtgaactggaacatttgcaac	10	6	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:26681924C>T	uc001mqt.3	+	27	3024	c.2879C>T	c.(2878-2880)GCT>GTT	p.A960V	ANO3_uc010rdr.1_Missense_Mutation_p.A944V|ANO3_uc010rds.1_Missense_Mutation_p.A799V|ANO3_uc010rdt.1_Missense_Mutation_p.A814V	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	960	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATGTATGAGGCTGAACTGGAA	0.428													T	26681924	C	T	26681924	3	4	250	1	0	0	0	0	1	0	0	0	698	797	28	2	2985	2	ANO3	11	26681924	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4318744	26681924	108324592	816	124744											
LIN7C	55327	broad.mit.edu	37	chr11	27520240	27520240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcattttttcaaagcGcgactccatttcttctaaga	5	10	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:27520240G>A	uc001mrl.2	-	5	577	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LIN7C_uc009yii.2_Missense_Mutation_p.R160C	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	184					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TTTTCAAAGCGCGACTCCATT	0.378													A	27520240	G	A	27520240	3	1	250	1	0	0	0	0	1	0	0	0	8812	1087	38	1	47	1	LIN7C	11	27520240	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	838316	27520240	107486276	817	124745											
QSER1	79832	broad.mit.edu	37	chr11	32955470	32955470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacagcgtgttcaaagccCtcaacaaatagtacatccct	6	13	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:32955470C>T	uc001mty.2	+	4	2546	c.2279C>T	c.(2278-2280)CCT>CTT	p.P760L	QSER1_uc001mtz.1_Missense_Mutation_p.P521L|QSER1_uc001mua.2_Missense_Mutation_p.P265L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	760	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GTTCAAAGCCCTCAACAAATA	0.408													T	32955470	C	T	32955470	3	4	250	1	0	0	0	0	1	0	0	0	12882	681	24	4	2285	4	QSER1	11	32955470	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5435230	32955470	102051046	818	124746											
TP53I11	9537	broad.mit.edu	37	chr11	44956502	44956502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacgacaaaaaggaggCggctgaccaggagcagcagg	16	8	0	3	rs141661210		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:44956502C>T	uc001myi.2	-	10	1108	c.503G>A	c.(502-504)CGC>CAC	p.R168H	TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Missense_Mutation_p.R168H|TP53I11_uc001myk.2_Missense_Mutation_p.R168H|TP53I11_uc001myl.2_Missense_Mutation_p.R168H|TP53I11_uc001mym.2_Missense_Mutation_p.R115H	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	168	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						AAAAAGGAGGCGGCTGACCAG	0.607													T	44956502	C	T	44956502	3	4	250	1	0	0	0	0	1	0	0	0	16382	768	27	1	70	1	TP53I11	11	44956502	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	12001032	44956502	90050014	819	124747											
CHST1	8534	broad.mit.edu	37	chr11	45671602	45671602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacttgcccttgagccacGggggccgcatgaggccggtg	16	12	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:45671602G>A	uc001mys.1	-	4	1543	c.872C>T	c.(871-873)CCG>CTG	p.P291L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	291	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTTGAGCCACGGGGGCCGCAT	0.622													A	45671602	G	A	45671602	3	1	250	1	0	0	0	0	1	0	0	0	3397	1116	39	1	367	1	CHST1	11	45671602	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	715100	45671602	89334914	820	124748											
LRP4	4038	broad.mit.edu	37	chr11	46884241	46884242	+	Frame_Shift_Ins	INS	-	-	T													gtgtggatgttcggtaggagINSgggttgctgtaggtgaggtt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:46884240_46884241A>AT	uc001ndn.4	-	36	5544_5545	c.5301_5302T>AT	c.(5299-5304)ccctccfs	p.P1767fs	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Frame_Shift_Ins_p.P9fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1767					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical 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)		GTTCGGTAGGAGGGGTTGCTGT	0.426													T	46884242	-	T	46884241	7	5	250	1	0	1	1	0	0	0	0	0	8959	987	35	0	424	0	LRP4	11	46884241	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1212639	46884241	88122275	821	124749											
NR1H3	10062	broad.mit.edu	37	chr11	47282097	47282097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaagggattcttccgcCgcagcgtcatcaagggagcg	14	12	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:47282097C>T	uc009ylm.2	+	4	591	c.370C>T	c.(370-372)CGC>TGC	p.R124C	NR1H3_uc009yll.1_Missense_Mutation_p.R130C|NR1H3_uc010rhk.1_Missense_Mutation_p.R130C|NR1H3_uc001nek.2_Missense_Mutation_p.R79C|NR1H3_uc001nej.2_Missense_Mutation_p.R124C|NR1H3_uc001nel.2_Missense_Mutation_p.R79C|NR1H3_uc001nen.3_Missense_Mutation_p.R124C|NR1H3_uc001nem.2_Missense_Mutation_p.R124C|NR1H3_uc001nep.2_Missense_Mutation_p.R33C	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	124	Nuclear receptor.				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			ovary(2)|lung(1)	3						ATTCTTCCGCCGCAGCGTCAT	0.602													T	47282097	C	T	47282097	3	4	250	1	0	0	0	0	1	0	0	0	10618	652	23	1	380	1	NR1H3	11	47282097	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	397856	47282097	87724419	822	124750											
PTPRJ	5795	broad.mit.edu	37	chr11	48145177	48145177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatagagccgatcccagTttctgatctccgtgttgccc	8	12	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:48145177T>C	uc001ngp.3	+	5	984	c.629T>C	c.(628-630)GTT>GCT	p.V210A	PTPRJ_uc001ngo.3_Missense_Mutation_p.V210A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	210	Extracellular (Potential).|Fibronectin type-III 2.				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)|kidney(3)|ovary(1)|skin(1)	8						CCGATCCCAGTTTCTGATCTC	0.488													C	48145177	T	C	48145177	3	2	250	1	0	0	0	0	1	0	0	0	12804	1725	60	3	647	3	PTPRJ	11	48145177	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	863080	48145177	86861339	823	124751											
OR4B1	119765	broad.mit.edu	37	chr11	48238920	48238920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctttattcaagcttgccTgcactgacaccttcatggag	8	12	2	1	rs145940486		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:48238920T>C	uc010rhs.1	+	1	559	c.559T>C	c.(559-561)TGC>CGC	p.C187R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						CAAGCTTGCCTGCACTGACAC	0.443													C	48238920	T	C	48238920	3	2	250	1	0	0	0	0	1	0	0	0	11044	1580	55	3	561	3	OR4B1	11	48238920	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	93743	48238920	86767596	824	124752											
OR4C13	283092	broad.mit.edu	37	chr11	49974622	49974622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgctcctggtctcctgCgtggtcatactgtactcctt	8	14	3	0	rs142785731		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:49974622C>T	uc010rhz.1	+	1	648	c.648C>T	c.(646-648)TGC>TGT	p.C216C		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGGTCTCCTGCGTGGTCATAC	0.483													T	49974622	C	T	49974622	2	4	250	1	0	0	0	0	0	0	0	1	11047	776	27	1		1	OR4C13	11	49974622	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1735702	49974622	85031894	825	124753											
OR4C15	81309	broad.mit.edu	37	chr11	55322287	55322287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtggaggtgattgtcctcAcagccatggcctatgatcgt	14	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:55322287A>G	uc010rig.1	+	1	505	c.505A>G	c.(505-507)ACA>GCA	p.T169A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GATTGTCCTCACAGCCATGGC	0.488										HNSCC(20;0.049)			G	55322287	A	G	55322287	3	3	250	1	0	0	0	0	1	0	0	0	11048	159	6	3	507	3	OR4C15	11	55322287	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	5347665	55322287	79684229	826	124754											
OR4C6	219432	broad.mit.edu	37	chr11	55433482	55433482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcatcacacccatgttAaatcccttgatctatacact	2	13	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:55433482A>G	uc001nht.3	+	3	1105	c.840A>G	c.(838-840)TTA>TTG	p.L280L	OR4C6_uc010rik.1_Silent_p.L280L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CACCCATGTTAAATCCCTTGA	0.453													G	55433482	A	G	55433482	2	3	250	1	0	0	0	0	0	0	0	1	11052	359	13	3		3	OR4C6	11	55433482	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	111195	55433482	79573034	827	124755											
OR5T3	390154	broad.mit.edu	37	chr11	56020522	56020522	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtgacaatttatcatGgaacaattctcgtcagttat	8	7	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:56020522G>T	uc010rjd.1	+	1	847	c.847G>T	c.(847-849)GGA>TGA	p.G283*		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	283	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					AATTTATCATGGAACAATTCT	0.398													T	56020522	G	T	56020522	4	4	250	1	0	0	0	0	0	1	0	0	11183	1349	47	5	849	5	OR5T3	11	56020522	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	587040	56020522	78985994	828	124756											
OR5M3	219482	broad.mit.edu	37	chr11	56237921	56237921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaacttgccattctcgaCggctcgttagccccaaaaga	9	12	1	2	rs142752109		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:56237921C>T	uc010rjk.1	-	1	53	c.53G>A	c.(52-54)CGT>CAT	p.R18H		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CCATTCTCGACGGCTCGTTAG	0.398													T	56237921	C	T	56237921	3	4	250	1	0	0	0	0	1	0	0	0	11175	536	19	1	872	1	OR5M3	11	56237921	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	217399	56237921	78768595	829	124757											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-													caacctggtgtctctgagacAgaagaagtggccttgcagcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:57466854_57466856CAGA>C	uc001nkx.1	+	10	3202_3204	c.1946_1948CAGA>C	c.(1945-1950)acagaa>aCaa	p.E651del	ZDHHC5_uc001nky.1_In_Frame_Del_p.E598del|ZDHHC5_uc001nkz.1_In_Frame_Del_p.E465del	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	651						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GTCTCTGAGACAGAAGAAGTGGC	0.512													-	57466857	AGA	-	57466855	7	5	250	1	0	1	0	1	0	0	0	0	17615	175	7	0	1985	0	ZDHHC5	11	57466855	In_Frame_Del	DEL	AGA	TCGA-HF-7132-01A-11D-2053-08	1228934	57466855	77539661	830	124758											
FAM111B	374393	broad.mit.edu	37	chr11	58891822	58891822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgttgtttcacctttacGttgaatggaaactccagaaa	8	7	1	2	rs141392651	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:58891822G>A	uc001nnl.2	+	4	495	c.252G>A	c.(250-252)ACG>ACA	p.T84T	FAM111B_uc001nnm.2_Silent_p.T54T|FAM111B_uc010rko.1_Silent_p.T54T	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	84							catalytic activity			ovary(2)	2						TCACCTTTACGTTGAATGGAA	0.388													A	58891822	G	A	58891822	2	1	250	1	0	0	0	0	0	0	0	1	5400	1132	40	1		1	FAM111B	11	58891822	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1424967	58891822	76114694	831	124759											
OR10V1	390201	broad.mit.edu	37	chr11	59481128	59481128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctagaactgccagattaGccaggaaaaagtacatgggg	11	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:59481128G>A	uc001nof.1	-	1	191	c.191C>T	c.(190-192)GCT>GTT	p.A64V		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCCAGATTAGCCAGGAAAAA	0.458													A	59481128	G	A	59481128	3	1	250	1	0	0	0	0	1	0	0	0	10920	971	34	2	742	2	OR10V1	11	59481128	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	589306	59481128	75525388	832	124760											
MS4A7	58475	broad.mit.edu	37	chr11	60154225	60154225	+	Frame_Shift_Del	DEL	A	A	-													tccctctcaattatctctggAaaacaatcaactaagccctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:60154224_60154224GA>G	uc001npe.3	+	3	462	c.317_317GA>G	c.(316-318)ggafs	p.G106fs	MS4A7_uc001npf.3_Frame_Shift_Del_p.G106fs|MS4A7_uc001npg.3_Frame_Shift_Del_p.G61fs|MS4A7_uc001nph.3_Frame_Shift_Del_p.G61fs|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Frame_Shift_Del_p.G61fs	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	106						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						ATTATCTCTGGAAAACAATCA	0.403													-	60154225	A	-	60154225	7	5	250	1	0	1	0	1	0	0	0	0	9866	233	9	0	328	0	MS4A7	11	60154225	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	673097	60154225	74852291	833	124761											
ZP1	22917	broad.mit.edu	37	chr11	60637116	60637116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaacctgacccctcccGgactctggactcccagctgg	8	19	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:60637116G>A	uc001nqd.2	+	3	445	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	142	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						GACCCCTCCCGGACTCTGGAC	0.592													A	60637116	G	A	60637116	3	1	250	1	0	0	0	0	1	0	0	0	18212	1116	39	1	435	1	ZP1	11	60637116	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	482891	60637116	74369400	834	124762											
TMEM132A	54972	broad.mit.edu	37	chr11	60703936	60703936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgtcctgcgctatcagCgcaaagaacctcccgacagt	8	15	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:60703936C>T	uc001nqj.2	+	11	2822	c.2629C>T	c.(2629-2631)CGC>TGC	p.R877C	TMEM132A_uc001nqi.2_Missense_Mutation_p.R878C|TMEM132A_uc001nqm.2_Missense_Mutation_p.R87C	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	877	Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GCGCTATCAGCGCAAAGAACC	0.612													T	60703936	C	T	60703936	3	4	250	1	0	0	0	0	1	0	0	0	16042	768	27	1	2674	1	TMEM132A	11	60703936	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	66820	60703936	74302580	835	124763											
DDB1	1642	broad.mit.edu	37	chr11	61071387	61071387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagcagcagcactgagcGcataaggtcgcccaccagga	13	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:61071387G>A	uc001nrc.3	-	22	3008	c.2782C>T	c.(2782-2784)CGC>TGC	p.R928C	DDB1_uc010rle.1_Missense_Mutation_p.R239C|DDB1_uc010rlf.1_Missense_Mutation_p.R928C	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	928	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			ovary(2)|lung(1)|central_nervous_system(1)	4						AGCACTGAGCGCATAAGGTCG	0.562								NER					A	61071387	G	A	61071387	3	1	250	1	0	0	0	0	1	0	0	0	4323	1087	38	1	664	1	DDB1	11	61071387	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	367451	61071387	73935129	836	124764											
SYT7	9066	broad.mit.edu	37	chr11	61323636	61323636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgacgctaaggctgacGgtgatgatggcagagaccag	15	8	0	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:61323636G>A	uc001nrv.2	-	2	81	c.75C>T	c.(73-75)ACC>ACT	p.T25T	SYT7_uc009ynr.2_Silent_p.T25T|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	25	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						TAAGGCTGACGGTGATGATGG	0.667													A	61323636	G	A	61323636	2	1	250	1	0	0	0	0	0	0	0	1	15476	1103	39	1		1	SYT7	11	61323636	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	252249	61323636	73682880	837	124765											
C11orf9	745	broad.mit.edu	37	chr11	61539013	61539014	+	Frame_Shift_Ins	INS	-	-	C													aagaggaagcactctgaatcINScccccccagcaccctcaatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:61539012_61539013T>TC	uc001nsc.1	+	5	877_878	c.781_782T>TC	c.(781-783)tccfs	p.S261fs	C11orf9_uc001nse.1_Frame_Shift_Ins_p.S252fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCACTCTGAATCCCCCCCCAGC	0.634													C	61539014	-	C	61539013	7	5	250	1	0	1	1	0	0	0	0	0	1671	855	30	0	827	0	C11orf9	11	61539013	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	215377	61539013	73467503	838	124766											
NRXN2	9379	broad.mit.edu	37	chr11	64390423	64390423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacattggggtcgctctcGgcggccagcgccagcacctt	13	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64390423G>A	uc001oap.2	-	6	1348	c.837C>T	c.(835-837)GCC>GCT	p.A279A	NRXN2_uc001oar.2_Silent_p.A1325A|NRXN2_uc001oas.2_Silent_p.A1255A|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Silent_p.A992A	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	279	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GGTCGCTCTCGGCGGCCAGCG	0.701													A	64390423	G	A	64390423	2	1	250	1	0	0	0	0	0	0	0	1	10666	1103	39	1		1	NRXN2	11	64390423	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2851410	64390423	70616093	839	124767											
SF1	7536	broad.mit.edu	37	chr11	64534506	64534506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgcccactgggaggcGgcggcggcggcggcatcatg	21	12	1	0	rs149376410		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64534506G>A	uc001obb.1	-	12	1825	c.1448C>T	c.(1447-1449)CCG>CTG	p.P483L	SF1_uc010rnm.1_Missense_Mutation_p.P175L|SF1_uc010rnn.1_Missense_Mutation_p.P457L|SF1_uc001oaz.1_Missense_Mutation_p.P608L|SF1_uc001oba.1_Missense_Mutation_p.P483L|SF1_uc001obc.1_Missense_Mutation_p.P483L|SF1_uc001obd.1_Silent_p.A484A|SF1_uc001obe.1_Silent_p.A369A|SF1_uc010rno.1_Missense_Mutation_p.P368L	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	483	Pro-rich.				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			ovary(1)|breast(1)|skin(1)	3						ACTGGGAGGCGGCGGCGGCGG	0.687													A	64534506	G	A	64534506	3	1	250	1	0	0	0	0	1	0	0	0	14145	1116	39	1	613	1	SF1	11	64534506	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	144083	64534506	70472010	840	124768											
BATF2	116071	broad.mit.edu	37	chr11	64757191	64757191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacaggcgctcatgcaCgtgcagggtccggctccacc	15	15	1	0	rs137880686	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64757191C>T	uc001ocf.1	-	3	366	c.235G>A	c.(235-237)GTG>ATG	p.V79M	BATF2_uc001oce.1_Translation_Start_Site	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor,	79						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCTCATGCACGTGCAGGGTC	0.667													T	64757191	C	T	64757191	3	4	250	1	0	0	0	0	1	0	0	0	1326	536	19	1	593	1	BATF2	11	64757191	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	222685	64757191	70249325	841	124769											
SAC3D1	29901	broad.mit.edu	37	chr11	64812170	64812170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagaggaggaagatgagGgcacggacagacctgggtcc	18	8	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:64812170G>T	uc001ocm.2	+	2	1437	c.1048G>T	c.(1048-1050)GGC>TGC	p.G350C	SAC3D1_uc010rnv.1_Missense_Mutation_p.G337C	NM_013299	NP_037431			SAC3 domain containing 1												0						GGAAGATGAGGGCACGGACAG	0.602													T	64812170	G	T	64812170	3	4	250	1	0	0	0	0	1	0	0	0	13802	1232	43	5	1054	5	SAC3D1	11	64812170	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	54979	64812170	70194346	842	124770											
LTBP3	4054	broad.mit.edu	37	chr11	65320450	65320450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcattgcgcactcgttgAtgtctgtggtaagtggaagt	14	8	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:65320450A>G	uc001oej.2	-	6	1336	c.1067T>C	c.(1066-1068)ATC>ACC	p.I356T	LTBP3_uc010roi.1_Missense_Mutation_p.I239T|LTBP3_uc001oei.2_Missense_Mutation_p.I356T|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.I267T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	356	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GCACTCGTTGATGTCTGTGGT	0.617													G	65320450	A	G	65320450	3	3	250	1	0	0	0	0	1	0	0	0	9075	333	12	3	2936	3	LTBP3	11	65320450	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	508280	65320450	69686066	843	124771											
SF3B2	10992	broad.mit.edu	37	chr11	65825861	65825861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaggaggacacagtgtcCgtatctaaaaaggaggtagg	14	6	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:65825861C>T	uc001ogy.1	+	9	991	c.951C>T	c.(949-951)TCC>TCT	p.S317S		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	317					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						ACACAGTGTCCGTATCTAAAA	0.493													T	65825861	C	T	65825861	2	4	250	1	0	0	0	0	0	0	0	1	14151	639	23	1		1	SF3B2	11	65825861	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	505411	65825861	69180655	844	124772											
DPP3	10072	broad.mit.edu	37	chr11	66252663	66252663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttcctggtctatgccgCgggtgtttactccaacatgg	13	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:66252663C>T	uc001oig.1	+	3	352	c.290C>T	c.(289-291)GCG>GTG	p.A97V	DPP3_uc001oif.1_Missense_Mutation_p.A97V|DPP3_uc010rpe.1_Intron	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	97					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GTCTATGCCGCGGGTGTTTAC	0.592													T	66252663	C	T	66252663	3	4	250	1	0	0	0	0	1	0	0	0	4728	768	27	1	296	1	DPP3	11	66252663	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	426802	66252663	68753853	845	124773											
SPTBN2	6712	broad.mit.edu	37	chr11	66453406	66453406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctctgccgtctttgctgCggagcacaacaggcccctca	10	15	3	0	rs145522851	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:66453406C>T	uc001ojd.2	-	37	7181	c.7109G>A	c.(7108-7110)CGC>CAC	p.R2370H	SPTBN2_uc001ojc.1_3'UTR	NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2370					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTCTTTGCTGCGGAGCACAAC	0.627													T	66453406	C	T	66453406	3	4	250	1	0	0	0	0	1	0	0	0	15119	768	27	1	67	1	SPTBN2	11	66453406	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	200743	66453406	68553110	846	124774											
CARNS1	57571	broad.mit.edu	37	chr11	67191666	67191666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttatcgagatcaacccccGcatgggtggcttctacctgc	10	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:67191666G>A	uc009yrp.2	+	9	2530	c.2078G>A	c.(2077-2079)CGC>CAC	p.R693H	CARNS1_uc001olc.3_Missense_Mutation_p.R832H	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	693	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						ATCAACCCCCGCATGGGTGGC	0.617													A	67191666	G	A	67191666	3	1	250	1	0	0	0	0	1	0	0	0	2656	1087	38	1	2481	1	CARNS1	11	67191666	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	738260	67191666	67814850	847	124775											
ALDH3B2	222	broad.mit.edu	37	chr11	67430713	67430713	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggtgcagctctgggagccCatgccccagcgtaacagctg	14	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:67430713C>A	uc001omr.2	-	10	1570	c.1131G>T	c.(1129-1131)ATG>ATT	p.M377I	ALDH3B2_uc001oms.2_Missense_Mutation_p.M377I	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	377					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	TCTGGGAGCCCATGCCCCAGC	0.612													A	67430713	C	A	67430713	3	1	250	1	0	0	0	0	1	0	0	0	500	594	21	5	30	5	ALDH3B2	11	67430713	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	239047	67430713	67575803	848	124776											
LRP5	4041	broad.mit.edu	37	chr11	68183850	68183850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcagtcggatgatccCggacgaccagcacagcccgg	12	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:68183850C>T	uc001ont.2	+	13	2957	c.2882C>T	c.(2881-2883)CCG>CTG	p.P961L	LRP5_uc009ysg.2_Missense_Mutation_p.P371L	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	961	Beta-propeller 4.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGGATGATCCCGGACGACCAG	0.572													T	68183850	C	T	68183850	3	4	250	1	0	0	0	0	1	0	0	0	8960	652	23	1	2932	1	LRP5	11	68183850	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	753137	68183850	66822666	849	124777											
LRP5	4041	broad.mit.edu	37	chr11	68201246	68201246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcagtgtgtggacctgCgcctgcgctgcgacggcgag	19	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:68201246C>T	uc001ont.2	+	18	4015	c.3940C>T	c.(3940-3942)CGC>TGC	p.R1314C	LRP5_uc009ysg.2_Missense_Mutation_p.R724C	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1314	LDL-receptor class A 2.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						TGTGGACCTGCGCCTGCGCTG	0.701													T	68201246	C	T	68201246	3	4	250	1	0	0	0	0	1	0	0	0	8960	768	27	1	4010	1	LRP5	11	68201246	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	17396	68201246	66805270	850	124778											
MRPL21	219927	broad.mit.edu	37	chr11	68664114	68664114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgccatactgccccgTgacgatcatctcattcacct	7	16	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:68664114T>C	uc001ooi.2	-	4	290	c.265A>G	c.(265-267)ACG>GCG	p.T89A	MRPL21_uc001ooh.2_Missense_Mutation_p.T4A|MRPL21_uc010rqe.1_Missense_Mutation_p.T89A	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	89					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TACTGCCCCGTGACGATCATC	0.577													C	68664114	T	C	68664114	3	2	250	1	0	0	0	0	1	0	0	0	9787	1696	59	3	368	3	MRPL21	11	68664114	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	462868	68664114	66342402	851	124779											
FGF3	2248	broad.mit.edu	37	chr11	69631101	69631101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactcaccgaagcatagagtCgtcccctcttgttcatggcc	9	14	3	1	rs150581924	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:69631101C>T	uc001oph.2	-	2	802	c.311G>A	c.(310-312)CGA>CAA	p.R104Q		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	104					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCATAGAGTCGTCCCCTCTT	0.597													T	69631101	C	T	69631101	3	4	250	1	0	0	0	0	1	0	0	0	5853	884	31	1	416	1	FGF3	11	69631101	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	966987	69631101	65375415	852	124780											
SHANK2	22941	broad.mit.edu	37	chr11	70319348	70319348	+	Frame_Shift_Del	DEL	G	G	-													agaggcggtggcagcagacaGgggggcgggcagggtctctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:70319347_70319347AG>A	uc001oqc.3	-	21	5091	c.4979_4979CT>T	c.(4978-4980)ctgfs	p.L1660fs	SHANK2_uc010rqn.2_Frame_Shift_Del_p.L1136fs|SHANK2_uc001opz.3_Frame_Shift_Del_p.L1131fs|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Frame_Shift_Del_p.L62fs|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1347					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor 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)			GGCAGCAGACAGGGGGGCGGG	0.607													-	70319348	G	-	70319348	7	5	250	1	0	1	0	1	0	0	0	0	14265	991	35	0	377	0	SHANK2	11	70319348	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	688247	70319348	64687168	853	124781											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276692	71276692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggggttgtggctccgGctgtgggggctgtggctccg	21	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:71276692G>T	uc001oqt.1	+	1	84	c.59G>T	c.(58-60)GGC>GTC	p.G20V		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	20						keratin filament				skin(1)	1						TGTGGCTCCGGCTGTGGGGGC	0.667													T	71276692	G	T	71276692	3	4	250	1	0	0	0	0	1	0	0	0	8559	1203	42	5	61	5	KRTAP5-10	11	71276692	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	957344	71276692	63729824	854	124782											
PHOX2A	401	broad.mit.edu	37	chr11	71952170	71952170	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgcgagcctcagtgaggtcGatcttgagcgccagctcctc	12	14	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:71952170G>A	uc001osh.3	-	2	553	c.381C>T	c.(379-381)ATC>ATT	p.I127I		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	127	Homeobox.				noradrenergic neuron differentiation|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				0						CAGTGAGGTCGATCTTGAGCG	0.597													A	71952170	G	A	71952170	2	1	250	1	0	0	0	0	0	0	0	1	11858	1048	37	1		1	PHOX2A	11	71952170	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	675478	71952170	63054346	855	124783											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021527	73021527	+	Frame_Shift_Del	DEL	C	C	-													acaagatgatggaagcgatgCcccccctggaagccctgact							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:73021526_73021526GC>G	uc001otu.3	+	0	1864	c.1843_1843GC>G	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					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						TGGAAGCGATGCCCCCCCTGG	0.617													-	73021527	C	-	73021527	7	5	250	1	0	1	0	1	0	0	0	0	900	739	26	0	1846	0	ARHGEF17	11	73021527	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	1069357	73021527	61984989	856	124784											
ARHGEF17	9828	broad.mit.edu	37	chr11	73022117	73022117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcctggcaccctggggCgtgtggtggacgacaggatt	19	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:73022117C>T	uc001otu.2	+	1	2455	c.2434C>T	c.(2434-2436)CGT>TGT	p.R812C		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	812					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				0						CACCCTGGGGCGTGTGGTGGA	0.607													T	73022117	C	T	73022117	3	4	250	1	0	0	0	0	1	0	0	0	900	768	27	1	2436	1	ARHGEF17	11	73022117	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	590	73022117	61984399	857	124785											
P4HA3	283208	broad.mit.edu	37	chr11	73990445	73990445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttaccttttgctgatgCggtactccacttgtaactgc	7	12	1	1	rs140613720	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:73990445C>T	uc001ouz.2	-	8	1206	c.1163G>A	c.(1162-1164)CGC>CAC	p.R388H	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.R388H	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	388						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TTTGCTGATGCGGTACTCCAC	0.527													T	73990445	C	T	73990445	3	4	250	1	0	0	0	0	1	0	0	0	11358	768	27	1	495	1	P4HA3	11	73990445	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	968328	73990445	61016071	858	124786											
PGM2L1	283209	broad.mit.edu	37	chr11	74057834	74057834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatctgtggctagcactAcccgggcattttctttctct	9	12	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:74057834A>G	uc001ovb.1	-	8	1276	c.980T>C	c.(979-981)GTA>GCA	p.V327A		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	327					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					GGCTAGCACTACCCGGGCATT	0.418													G	74057834	A	G	74057834	3	3	250	1	0	0	0	0	1	0	0	0	11799	391	14	3	916	3	PGM2L1	11	74057834	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	67389	74057834	60948682	859	124787											
RNF169	254225	broad.mit.edu	37	chr11	74547506	74547506	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccacttccttctttgcgtCgaggccggaaaagacactgc	10	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:74547506C>T	uc001ovl.3	+	6	1871	c.1858C>T	c.(1858-1860)CGA>TGA	p.R620*	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	620							zinc ion binding			ovary(1)	1						TTCTTTGCGTCGAGGCCGGAA	0.453													T	74547506	C	T	74547506	4	4	250	1	0	0	0	0	0	1	0	0	13460	876	31	1	1880	1	RNF169	11	74547506	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	489672	74547506	60459010	860	124788											
NOX4	50507	broad.mit.edu	37	chr11	89075264	89075264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgttgagtattgatgCaaatggagttactccaatgc	12	6	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:89075264C>A	uc001pct.2	-	14	1554	c.1315G>T	c.(1315-1317)GCA>TCA	p.A439S	NOX4_uc009yvr.2_Missense_Mutation_p.A414S|NOX4_uc001pcu.2_Missense_Mutation_p.A365S|NOX4_uc001pcw.2_Missense_Mutation_p.A132S|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Intron|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.A273S|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Intron|NOX4_uc009yvq.2_Missense_Mutation_p.A415S	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	439	Helical; (Potential).|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			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTATTGATGCAAATGGAGTT	0.383													A	89075264	C	A	89075264	3	1	250	1	0	0	0	0	1	0	0	0	10558	710	25	5	441	5	NOX4	11	89075264	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	14527758	89075264	45931252	861	124789											
FAT3	120114	broad.mit.edu	37	chr11	92543168	92543168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttcttctgaccactAcaacacctgtgtctatgaga	7	10	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92543168A>G	uc001pdj.3	+	12	9424	c.9407A>G	c.(9406-9408)TAC>TGC	p.Y3136C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3136	Cadherin 29.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGACCACTACAACACCTGT	0.542										TCGA Ovarian(4;0.039)			G	92543168	A	G	92543168	3	3	250	1	0	0	0	0	1	0	0	0	5691	391	14	3	9453	3	FAT3	11	92543168	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3467904	92543168	42463348	862	124790											
FAT3	120114	broad.mit.edu	37	chr11	92577840	92577840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcatgacctacagcacGgctcgcatcagctttgtgtg	11	13	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92577840G>A	uc001pdj.3	+	18	11324	c.11307G>A	c.(11305-11307)ACG>ACA	p.T3769T	FAT3_uc001pdi.3_Silent_p.T209T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3769	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTACAGCACGGCTCGCATCA	0.537										TCGA Ovarian(4;0.039)			A	92577840	G	A	92577840	2	1	250	1	0	0	0	0	0	0	0	1	5691	1103	39	1		1	FAT3	11	92577840	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	34672	92577840	42428676	863	124791											
FAT3	120114	broad.mit.edu	37	chr11	92590407	92590407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccggggtccaacgatcCttgtgtggagaagccgtgtc	15	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92590407C>A	uc001pdj.3	+	19	11410	c.11393C>A	c.(11392-11394)CCT>CAT	p.P3798H	FAT3_uc001pdi.3_Missense_Mutation_p.P238H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3798	EGF-like 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCAACGATCCTTGTGTGGAG	0.542										TCGA Ovarian(4;0.039)			A	92590407	C	A	92590407	3	1	250	1	0	0	0	0	1	0	0	0	5691	681	24	5	11467	5	FAT3	11	92590407	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	12567	92590407	42416109	864	124792											
MTNR1B	4544	broad.mit.edu	37	chr11	92715374	92715374	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttggccctttggaacCcacggcactgcattcaagat	8	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92715374C>A	uc001pdk.1	+	2	1088	c.985C>A	c.(985-987)CCA>ACA	p.P329T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	329	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCTTTGGAACCCACGGCACTG	0.552													A	92715374	C	A	92715374	3	1	250	1	0	0	0	0	1	0	0	0	9952	623	22	5	991	5	MTNR1B	11	92715374	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	124967	92715374	42291142	865	124793											
SLC36A4	120103	broad.mit.edu	37	chr11	92914014	92914014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacactacagaatcccagCtgtgttatcaccagaaaaaa	5	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:92914014C>T	uc001pdn.2	-	6	586	c.489G>A	c.(487-489)CAG>CAA	p.Q163Q	SLC36A4_uc001pdm.2_Silent_p.Q28Q	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	163	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGAATCCCAGCTGTGTTATCA	0.343													T	92914014	C	T	92914014	2	4	250	1	0	0	0	0	0	0	0	1	14596	796	28	2		2	SLC36A4	11	92914014	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	198640	92914014	42092502	866	124794											
BIRC3	330	broad.mit.edu	37	chr11	102195592	102195592	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacttttccttcttcagtaAcaaattccacacactcatta	1	13	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:102195592A>T	uc001pgx.2	+	3	574	c.352A>T	c.(352-354)ACA>TCA	p.T118S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	118					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	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)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTCTTCAGTAACAAATTCCAC	0.398			T	MALT1	MALT								T	102195592	A	T	102195592	3	4	250	1	0	0	0	0	1	0	0	0	1436	43	2	5	354	5	BIRC3	11	102195592	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	9281578	102195592	32810924	867	124795											
ZC3H12C	85463	broad.mit.edu	37	chr11	110030104	110030104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgaagctggcttttgagtCggacggtatcattgtgtcca	13	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:110030104C>T	uc009yxw.2	+	4	1088	c.1037C>T	c.(1036-1038)TCG>TTG	p.S346L	ZC3H12C_uc010rwc.1_Missense_Mutation_p.S347L|ZC3H12C_uc010rwd.1_Missense_Mutation_p.S347L|ZC3H12C_uc001pkr.3_Missense_Mutation_p.S315L|ZC3H12C_uc001pkq.2_Missense_Mutation_p.S315L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	346							endonuclease activity|nucleic acid binding|zinc ion binding				0		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)		GCTTTTGAGTCGGACGGTATC	0.463													T	110030104	C	T	110030104	3	4	250	1	0	0	0	0	1	0	0	0	17560	893	31	1	1051	1	ZC3H12C	11	110030104	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7834512	110030104	24976412	868	124796											
PPP2R1B	5519	broad.mit.edu	37	chr11	111631752	111631752	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaacagtctcttccacAgttgccagattttccaaagg	7	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:111631752A>G	uc001plx.1	-	4	414	c.330T>C	c.(328-330)ACT>ACC	p.T110T	PPP2R1B_uc001plw.1_Silent_p.T110T|PPP2R1B_uc010rwi.1_Silent_p.T46T|PPP2R1B_uc010rwj.1_Intron|PPP2R1B_uc010rwk.1_Silent_p.T110T|PPP2R1B_uc010rwl.1_Intron	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	110	HEAT 3.						protein binding				0		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)		TCTCTTCCACAGTTGCCAGAT	0.423													G	111631752	A	G	111631752	2	3	250	1	0	0	0	0	0	0	0	1	12383	175	7	3		3	PPP2R1B	11	111631752	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1601648	111631752	23374764	869	124797											
TTC12	54970	broad.mit.edu	37	chr11	113215077	113215077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaaggtcctggccatcCggcagcagagctttgccctg	11	16	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:113215077C>T	uc001pnu.2	+	13	1174	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	TTC12_uc001pnv.2_Missense_Mutation_p.R363W|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.R207W	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	357							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCTGGCCATCCGGCAGCAGAG	0.592													T	113215077	C	T	113215077	3	4	250	1	0	0	0	0	1	0	0	0	16676	643	23	1	1115	1	TTC12	11	113215077	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1583325	113215077	21791439	870	124798											
ZW10	9183	broad.mit.edu	37	chr11	113610003	113610003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaagaatgggggcaagaCgcaatctgaactgatgcccg	12	10	1	4	rs61762985	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:113610003C>T	uc001poe.2	-	12	1722	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	562					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)|skin(1)	2		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)		GGGGGCAAGACGCAATCTGAA	0.453													T	113610003	C	T	113610003	3	4	250	1	0	0	0	0	1	0	0	0	18244	536	19	1	674	1	ZW10	11	113610003	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	394926	113610003	21396513	871	124799											
ZBTB16	7704	broad.mit.edu	37	chr11	113934110	113934110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaccagatgcggctgGccgggactttgtgcgatgtg	16	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:113934110G>A	uc001pop.2	+	2	352	c.88G>A	c.(88-90)GCC>ACC	p.A30T	ZBTB16_uc001poo.1_Missense_Mutation_p.A30T|ZBTB16_uc001poq.2_Missense_Mutation_p.A30T	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	30					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)|skin(1)	2		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)		GATGCGGCTGGCCGGGACTTT	0.597													A	113934110	G	A	113934110	3	1	250	1	0	0	0	0	1	0	0	0	17523	1203	42	2	90	2	ZBTB16	11	113934110	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	324107	113934110	21072406	872	124800											
ZBTB16	7704	broad.mit.edu	37	chr11	114113008	114113008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctgcagtgagtgcaacCgcaccttccccagccacacg	8	17	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:114113008C>T	uc001pop.2	+	5	1837	c.1573C>T	c.(1573-1575)CGC>TGC	p.R525C	ZBTB16_uc001poq.2_Missense_Mutation_p.R525C	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	525	C2H2-type 5.				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)|skin(1)	2		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)		TGAGTGCAACCGCACCTTCCC	0.632													T	114113008	C	T	114113008	3	4	250	1	0	0	0	0	1	0	0	0	17523	652	23	1	1587	1	ZBTB16	11	114113008	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	178898	114113008	20893508	873	124801											
SIDT2	51092	broad.mit.edu	37	chr11	117063305	117063305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagactcggggatcttccGccgcatcctccacgtgctct	10	17	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:117063305G>A	uc001pqh.1	+	21	2038	c.1997G>A	c.(1996-1998)CGC>CAC	p.R666H	SIDT2_uc010rxe.1_Missense_Mutation_p.R666H|SIDT2_uc001pqg.2_Missense_Mutation_p.R687H|SIDT2_uc001pqi.1_Missense_Mutation_p.R663H|SIDT2_uc001pqj.1_5'UTR	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	666	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	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)		GGGATCTTCCGCCGCATCCTC	0.642													A	117063305	G	A	117063305	3	1	250	1	0	0	0	0	1	0	0	0	14303	1087	38	1	2079	1	SIDT2	11	117063305	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2950297	117063305	17943211	874	124802											
DSCAML1	57453	broad.mit.edu	37	chr11	117303115	117303115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaggggtcctgtgctcTggatgagggttgggtggtgc	20	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:117303115T>C	uc001prh.1	-	30	5314	c.5312A>G	c.(5311-5313)CAG>CGG	p.Q1771R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1711	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		TCCTGTGCTCTGGATGAGGGT	0.587													C	117303115	T	C	117303115	3	2	250	1	0	0	0	0	1	0	0	0	4769	1580	55	3	1045	3	DSCAML1	11	117303115	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	239810	117303115	17703401	875	124803											
DSCAML1	57453	broad.mit.edu	37	chr11	117403212	117403212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagatgtacagcccgccGtggtaggtaataaaaaacct	10	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:117403212G>A	uc001prh.1	-	4	719	c.717C>T	c.(715-717)CAC>CAT	p.H239H	DSCAML1_uc001pri.1_Silent_p.H43H	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	179	Extracellular (Potential).|Ig-like C2-type 2.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		ACAGCCCGCCGTGGTAGGTAA	0.537													A	117403212	G	A	117403212	2	1	250	1	0	0	0	0	0	0	0	1	4769	1136	40	1		1	DSCAML1	11	117403212	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	100097	117403212	17603304	876	124804											
UBE4A	9354	broad.mit.edu	37	chr11	118263589	118263589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcactgtggatagatccaCcattgcaagacatttgctca	8	10	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118263589C>T	uc001psw.2	+	19	3182	c.3053C>T	c.(3052-3054)ACC>ATC	p.T1018I	UBE4A_uc001psv.2_Missense_Mutation_p.T1025I	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1018	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		GATAGATCCACCATTGCAAGA	0.453													T	118263589	C	T	118263589	3	4	250	1	0	0	0	0	1	0	0	0	16879	507	18	4	3144	4	UBE4A	11	118263589	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	860377	118263589	16742927	877	124805											
MLL	4297	broad.mit.edu	37	chr11	118361992	118361992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgtggaaagtgtgatcGctgggtccattccaaatgtg	13	7	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118361992G>A	uc001pta.2	+	14	4801	c.4778G>A	c.(4777-4779)CGC>CAC	p.R1593H	MLL_uc001ptb.2_Missense_Mutation_p.R1593H|MLL_uc001pte.1_RNA	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1593	PHD-type 3.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAGTGTGATCGCTGGGTCCAT	0.383			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118361992	G	A	118361992	3	1	250	1	0	0	0	0	1	0	0	0	9620	1087	38	1	4832	1	MLL	11	118361992	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	98403	118361992	16644524	878	124806											
TTC36	143941	broad.mit.edu	37	chr11	118398293	118398293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacattgttggattggacctCggagaggaagcagaaaagga	15	5	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118398293C>T	uc001ptg.1	+	1	84	c.84C>T	c.(82-84)CTC>CTT	p.L28L	TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	28							binding				0						GATTGGACCTCGGAGAGGAAG	0.532													T	118398293	C	T	118398293	2	4	250	1	0	0	0	0	0	0	0	1	16701	871	31	1		1	TTC36	11	118398293	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	36301	118398293	16608223	879	124807											
DDX6	1656	broad.mit.edu	37	chr11	118625487	118625487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggctcttatcaatgttGctcggaataggtttaatttc	8	7	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118625487G>A	uc001pub.2	-	13	1747	c.1386C>T	c.(1384-1386)AGC>AGT	p.S462S	DDX6_uc001pua.2_Silent_p.S162S|DDX6_uc001puc.2_Silent_p.S462S	NM_004397	NP_004388	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6	462	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TATCAATGTTGCTCGGAATAG	0.438			T	IGH@	B-NHL								A	118625487	G	A	118625487	2	1	250	1	0	0	0	0	0	0	0	1	4377	1310	46	2		2	DDX6	11	118625487	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	227194	118625487	16381029	880	124808											
HMBS	3145	broad.mit.edu	37	chr11	118963986	118963986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacggcagcttaacgatgCccattaactggtttgtgggg	13	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118963986C>T	uc001puz.1	+	14	1236	c.1079C>T	c.(1078-1080)GCC>GTC	p.A360V	HMBS_uc001pvc.1_Missense_Mutation_p.A305V|HMBS_uc009zap.1_Missense_Mutation_p.A343V|HMBS_uc001pva.1_Missense_Mutation_p.A320V|HMBS_uc001pvb.1_Missense_Mutation_p.A329V|HMBS_uc001pvd.1_Missense_Mutation_p.A343V|HMBS_uc001pve.1_Missense_Mutation_p.A303V|HMBS_uc001pvf.1_Missense_Mutation_p.A343V	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	360					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTTAACGATGCCCATTAACTG	0.567									Porphyria_Acute_Intermittent				T	118963986	C	T	118963986	3	4	250	1	0	0	0	0	1	0	0	0	7219	739	26	2	1133	2	HMBS	11	118963986	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	338499	118963986	16042530	881	124809											
DPAGT1	1798	broad.mit.edu	37	chr11	118967888	118967888	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgtgaggtttctctcAtgtatgggcccaaggacttt	11	8	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:118967888A>G	uc001pvi.2	-	8	1545	c.1125T>C	c.(1123-1125)CAT>CAC	p.H375H	H2AFX_uc001pvg.2_5'Flank|H2AFX_uc001pvh.1_5'Flank|DPAGT1_uc001pvj.2_Silent_p.H268H|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Silent_p.H203H|DPAGT1_uc010ryz.1_Silent_p.H375H|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.1_Silent_p.H268H	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	375	Cytoplasmic (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGTTTCTCTCATGTATGGGCC	0.478													G	118967888	A	G	118967888	2	3	250	1	0	0	0	0	0	0	0	1	4710	214	8	3		3	DPAGT1	11	118967888	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3902	118967888	16038628	882	124810											
NLRX1	79671	broad.mit.edu	37	chr11	119052858	119052858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgctaatggaggggctgGcaggaaacacctcagtgacg	15	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:119052858G>A	uc001pvu.2	+	9	2625	c.2410G>A	c.(2410-2412)GCA>ACA	p.A804T	NLRX1_uc001pvv.2_Missense_Mutation_p.A804T|NLRX1_uc001pvw.2_Missense_Mutation_p.A804T|NLRX1_uc001pvx.2_Missense_Mutation_p.A804T	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	804	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			ovary(1)|skin(1)	2	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)		GGAGGGGCTGGCAGGAAACAC	0.637													A	119052858	G	A	119052858	3	1	250	1	0	0	0	0	1	0	0	0	10485	1203	42	2	2440	2	NLRX1	11	119052858	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	84970	119052858	15953658	883	124811											
TECTA	7007	broad.mit.edu	37	chr11	121023678	121023678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgcctgaagagtgactgCagccactactgcgtggaggg	14	11	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:121023678C>T	uc010rzo.1	+	12	4194	c.4194C>T	c.(4192-4194)TGC>TGT	p.C1398C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1398	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		AGAGTGACTGCAGCCACTACT	0.632													T	121023678	C	T	121023678	2	4	250	1	0	0	0	0	0	0	0	1	15744	718	25	2		2	TECTA	11	121023678	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1970820	121023678	13982838	884	124812											
TMEM218	219854	broad.mit.edu	37	chr11	124971177	124971177	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgatcacagcaccgaAgaataaaaaaatgacagaga	9	6	1	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:124971177A>C	uc001qbs.2	-	3	785	c.133T>G	c.(133-135)TTC>GTC	p.F45V	TMEM218_uc001qbr.2_Missense_Mutation_p.F71V|TMEM218_uc010saw.1_Missense_Mutation_p.F80V|TMEM218_uc010sax.1_Missense_Mutation_p.F45V|TMEM218_uc001qbt.2_Missense_Mutation_p.F80V|TMEM218_uc010say.1_Intron	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	transmembrane protein 218	45	Helical; (Potential).					integral to membrane					0						ACAGCACCGAAGAATAAAAAA	0.408													C	124971177	A	C	124971177	3	2	250	1	0	0	0	0	1	0	0	0	16138	72	3	5	222	5	TMEM218	11	124971177	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3947499	124971177	10035339	885	124813											
SRPR	6734	broad.mit.edu	37	chr11	126137546	126137546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacttgtcccgaaacagcCgatgcacgtcatctatcaat	8	12	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:126137546C>T	uc001qdh.2	-	3	314	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	SRPR_uc010sbm.1_Missense_Mutation_p.R60Q|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	88					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCGAAACAGCCGATGCACGTC	0.423													T	126137546	C	T	126137546	3	4	250	1	0	0	0	0	1	0	0	0	15161	652	23	1	1701	1	SRPR	11	126137546	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1166369	126137546	8868970	886	124814											
KCNJ5	3762	broad.mit.edu	37	chr11	128781757	128781757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagcccaagaagagaGcggagaccctcatgttttcc	10	13	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr11:128781757G>A	uc001qet.2	+	2	903	c.589G>A	c.(589-591)GCG>ACG	p.A197T	KCNJ5_uc009zck.2_Missense_Mutation_p.A197T|KCNJ5_uc001qew.2_Missense_Mutation_p.A197T	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	197	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	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)	CAAGAAGAGAGCGGAGACCCT	0.567													A	128781757	G	A	128781757	3	1	250	1	0	0	0	0	1	0	0	0	8054	971	34	2	591	2	KCNJ5	11	128781757	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2644211	128781757	6224759	887	124815											
SLC6A12	6539	broad.mit.edu	37	chr12	302470	302470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggggtcaggaagagCcaggagatcttcaccagggg	16	9	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:302470C>A	uc001qhz.2	-	15	2046	c.1503G>T	c.(1501-1503)TGG>TGT	p.W501C	SLC6A12_uc001qhx.2_Missense_Mutation_p.W158C|SLC6A12_uc001qhy.2_Missense_Mutation_p.W57C|SLC6A12_uc001qia.2_Missense_Mutation_p.W501C|SLC6A12_uc001qib.2_Missense_Mutation_p.W501C|SLC6A12_uc009zdh.1_Missense_Mutation_p.W501C	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	501	Helical; Name=11; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	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)			TCAGGAAGAGCCAGGAGATCT	0.587													A	302470	C	A	302470	3	1	250	1	0	0	0	0	1	0	0	0	14675	740	26	5	353	5	SLC6A12	12	302470	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08		302470	133549425	888	124816											
TULP3	7289	broad.mit.edu	37	chr12	3018723	3018723	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaaatgatgaagatgCgacaggctaagctggattat	12	4	0	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:3018723C>T	uc010seh.1	+	2	151	c.70C>T	c.(70-72)CGA>TGA	p.R24*	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Nonsense_Mutation_p.R24*|TULP3_uc010sei.1_5'UTR	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	24					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GATGAAGATGCGACAGGCTAA	0.373													T	3018723	C	T	3018723	4	4	250	1	0	0	0	0	0	1	0	0	16772	760	27	1	76	1	TULP3	12	3018723	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2716253	3018723	130833172	889	124817											
TEAD4	7004	broad.mit.edu	37	chr12	3129845	3129845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcgccctctgcgccccCggcacccccatggcagggcc	10	23	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:3129845C>T	uc010sej.1	+	9	903	c.626C>T	c.(625-627)CCG>CTG	p.P209L	TEAD4_uc010sek.1_Missense_Mutation_p.P166L|TEAD4_uc001qln.2_Missense_Mutation_p.P81L	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	210					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTGCGCCCCCGGCACCCCCA	0.667													T	3129845	C	T	3129845	3	4	250	1	0	0	0	0	1	0	0	0	15738	652	23	1	655	1	TEAD4	12	3129845	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	111122	3129845	130722050	890	124818											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc					rs80196697		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		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)			ACAACAGGGGGAAAAAAAGAT	0.393													-	4719362	A	-	4719362	7	5	250	1	0	1	0	1	0	0	0	0	4858	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	1589517	4719362	129132533	891	124819											
KCNA5	3741	broad.mit.edu	37	chr12	5153795	5153795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcgaccccctgaggaAcgagtacttcttcgaccgca	8	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:5153795A>G	uc001qni.2	+	1	711	c.482A>G	c.(481-483)AAC>AGC	p.N161S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	161						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCCCTGAGGAACGAGTACTTC	0.667													G	5153795	A	G	5153795	3	3	250	1	0	0	0	0	1	0	0	0	8006	43	2	3	484	3	KCNA5	12	5153795	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	434433	5153795	128698100	892	124820											
CD9	928	broad.mit.edu	37	chr12	6344406	6344406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtaggtgattaaggaAgtccaggagttttacaagga	12	5	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:6344406A>C	uc001qnp.1	+	6	804	c.360A>C	c.(358-360)GAA>GAC	p.E120D	CD9_uc010sev.1_Missense_Mutation_p.E120D|CD9_uc001qnq.1_Missense_Mutation_p.E120D	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	120	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1						TGATTAAGGAAGTCCAGGAGT	0.493													C	6344406	A	C	6344406	3	2	250	1	0	0	0	0	1	0	0	0	3046	69	3	5	378	5	CD9	12	6344406	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1190611	6344406	127507489	893	124821											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6439448	6439448	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacctctttttcaggtgtCgatttcccacaaactgagga	7	12	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:6439448C>T	uc001qnu.2	-	8	1034	c.753G>A	c.(751-753)TCG>TCA	p.S251S	TNFRSF1A_uc001qnt.2_Silent_p.S143S|TNFRSF1A_uc010sey.1_Silent_p.S19S|TNFRSF1A_uc010sez.1_Silent_p.S143S|TNFRSF1A_uc009zek.2_Silent_p.S208S	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	251	Cytoplasmic (Potential).				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			lung(2)|skin(1)	3						TTTCAGGTGTCGATTTCCCAC	0.463													T	6439448	C	T	6439448	2	4	250	1	0	0	0	0	0	0	0	1	16290	871	31	1		1	TNFRSF1A	12	6439448	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	95042	6439448	127412447	894	124822											
DPPA3	359787	broad.mit.edu	37	chr12	7867781	7867781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaccttctctttcagggGcctctcaaatctcctccgag	6	14	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:7867781G>A	uc001qtf.2	+	2	163	c.85G>A	c.(85-87)GCC>ACC	p.A29T		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	stella	29						cytoplasm|nucleus					0				Kidney(36;0.0887)		TCTTTCAGGGGCCTCTCAAAT	0.468													A	7867781	G	A	7867781	3	1	250	1	0	0	0	0	1	0	0	0	4735	1203	42	2	91	2	DPPA3	12	7867781	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1428333	7867781	125984114	895	124823											
A2ML1	144568	broad.mit.edu	37	chr12	8995753	8995753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtttcaaatggaagacttAgtatataatccggaacaagt	8	5	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:8995753A>G	uc001quz.3	+	12	1370	c.1272A>G	c.(1270-1272)TTA>TTG	p.L424L	A2ML1_uc001qva.1_Silent_p.L4L|A2ML1_uc010sgm.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	268						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGGAAGACTTAGTATATAATC	0.473													G	8995753	A	G	8995753	2	3	250	1	0	0	0	0	0	0	0	1	5	417	15	3		3	A2ML1	12	8995753	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1127972	8995753	124856142	896	124824											
PHC1	1911	broad.mit.edu	37	chr12	9091935	9091935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggaatttcgctcacaGgagattgatggacaggccct	13	9	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:9091935G>T	uc001qvd.2	+	15	3051	c.2895G>T	c.(2893-2895)CAG>CAT	p.Q965H	PHC1_uc001qve.2_Missense_Mutation_p.Q965H	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	965	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TTCGCTCACAGGAGATTGATG	0.443													T	9091935	G	T	9091935	3	4	250	1	0	0	0	0	1	0	0	0	11816	991	35	5	2949	5	PHC1	12	9091935	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	96182	9091935	124759960	897	124825											
STYK1	55359	broad.mit.edu	37	chr12	10777340	10777340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtagaggagatggcccctCgggtgtaaacttcataagcc	13	9	1	2	rs147511596		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:10777340C>T	uc001qys.2	-	8	1357	c.836G>A	c.(835-837)CGA>CAA	p.R279Q		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	279	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						GATGGCCCCTCGGGTGTAAAC	0.502										HNSCC(73;0.22)			T	10777340	C	T	10777340	3	4	250	1	0	0	0	0	1	0	0	0	15358	884	31	1	448	1	STYK1	12	10777340	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1685405	10777340	123074555	898	124826											
GRIN2B	2904	broad.mit.edu	37	chr12	13716608	13716608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtaccccgctgaccacGccgtgtttgtcgcccgtccc	11	18	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:13716608G>A	uc001rbt.2	-	13	3743	c.3564C>T	c.(3562-3564)GGC>GGT	p.G1188G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1188	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTGACCACGCCGTGTTTGT	0.627													A	13716608	G	A	13716608	2	1	250	1	0	0	0	0	0	0	0	1	6780	1074	38	1		1	GRIN2B	12	13716608	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2939268	13716608	120135287	899	124827											
GRIN2B	2904	broad.mit.edu	37	chr12	13717418	13717418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtccagggcgctctgCggtgagccattcacaccaga	12	12	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:13717418C>T	uc001rbt.2	-	13	2933	c.2754G>A	c.(2752-2754)CCG>CCA	p.P918P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	918	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCGCTCTGCGGTGAGCCAT	0.572													T	13717418	C	T	13717418	2	4	250	1	0	0	0	0	0	0	0	1	6780	755	27	1		1	GRIN2B	12	13717418	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	810	13717418	120134477	900	124828											
SLCO1C1	53919	broad.mit.edu	37	chr12	20885884	20885884	+	Frame_Shift_Del	DEL	G	G	-													tggcccttggaatattctctGgggggatagttatgaaaaaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:20885883_20885883TG>T	uc010sii.2	+	10	1582	c.1227_1227TG>T	c.(1225-1227)tctfs	p.S409fs	SLCO1C1_uc010sij.2_Frame_Shift_Del_p.S360fs|SLCO1C1_uc009zip.3_Frame_Shift_Del_p.S243fs|SLCO1C1_uc001rei.3_Frame_Shift_Del_p.S409fs|SLCO1C1_uc010sik.2_Frame_Shift_Del_p.S291fs	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	409					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)					GAATATTCTCTGGGGGGATAG	0.383													-	20885884	G	-	20885884	7	5	250	1	0	1	0	1	0	0	0	0	14725	1348	47	0	1262	0	SLCO1C1	12	20885884	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	7168466	20885884	112966011	901	124829											
GOLT1B	51026	broad.mit.edu	37	chr12	21665287	21665287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtccttggatccctcCtaaatttacctggaattaga	7	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:21665287C>T	uc001rez.2	+	4	514	c.355C>T	c.(355-357)CTA>TTA	p.L119L	GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	golgi transport 1 homolog B	119	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity				0						TGGATCCCTCCTAAATTTACC	0.343													T	21665287	C	T	21665287	2	4	250	1	0	0	0	0	0	0	0	1	6571	680	24	4		4	GOLT1B	12	21665287	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	779403	21665287	112186608	902	124830											
GYS2	2998	broad.mit.edu	37	chr12	21721851	21721851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctgttatttcagaaacCgtggtgaacacgtgagcgca	11	8	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:21721851C>T	uc001rfb.2	-	5	1026	c.771G>A	c.(769-771)ACG>ACA	p.T257T		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	257					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			lung(1)|skin(1)	2						TTTCAGAAACCGTGGTGAACA	0.438													T	21721851	C	T	21721851	2	4	250	1	0	0	0	0	0	0	0	1	6913	639	23	1		1	GYS2	12	21721851	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	56564	21721851	112130044	903	124831											
KIAA0528	9847	broad.mit.edu	37	chr12	22677508	22677508	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcttcattgaccacaagttCttctacaaatccatgaatta	4	10	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:22677508C>A	uc001rfq.2	-	6	727	c.499G>T	c.(499-501)GAA>TAA	p.E167*	KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Nonsense_Mutation_p.E167*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.E167*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.E167*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.E167*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.E167*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	167							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ACCACAAGTTCTTCTACAAAT	0.373													A	22677508	C	A	22677508	4	1	250	1	0	0	0	0	0	1	0	0	8182	922	32	5	2583	5	KIAA0528	12	22677508	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	955657	22677508	111174387	904	124832											
PPHLN1	51535	broad.mit.edu	37	chr12	42745792	42745792	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagtcatgttgattaccgaGactatgacgagggccgcagt	12	9	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:42745792G>A	uc001rng.1	+	3	283	c.178G>A	c.(178-180)GAC>AAC	p.D60N	PPHLN1_uc001rmy.2_Missense_Mutation_p.D78N|PPHLN1_uc001rna.2_Intron|PPHLN1_uc001rne.2_Missense_Mutation_p.D67N|PPHLN1_uc001rnb.2_Missense_Mutation_p.D67N|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Missense_Mutation_p.D60N|PPHLN1_uc001rnf.2_Missense_Mutation_p.D60N|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	periphilin 1 isoform 1	60					keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGATTACCGAGACTATGACGA	0.403													A	42745792	G	A	42745792	3	1	250	1	0	0	0	0	1	0	0	0	12315	942	33	4	209	4	PPHLN1	12	42745792	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	20068284	42745792	91106103	905	124833											
ARID2	196528	broad.mit.edu	37	chr12	46287412	46287412	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttttcctttctttttaaGgatgaaaaagagggaccaat	7	5	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:46287412G>T	uc001ros.1	+	20	5272	c.5272_splice	c.e20-1	p.D1758_splice	ARID2_uc001ror.2_Splice_Site_p.D1758_splice|ARID2_uc009zkg.1_Splice_Site_p.D1214_splice|ARID2_uc009zkh.1_Splice_Site_p.D1385_splice|ARID2_uc001rou.1_Splice_Site_p.D1092_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		TTCTTTTTAAGGATGAAAAAG	0.328													T	46287412	G	T	46287412	5	4	250	1	0	0	0	0	0	0	1	0	915	1014	35	5	5349	5	ARID2	12	46287412	Splice_Site	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3541620	46287412	87564483	906	124834											
ENDOU	8909	broad.mit.edu	37	chr12	48110149	48110149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgatctctctgaggaaggCgtcctgctcggccagctcct	11	14	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:48110149C>T	uc001rpu.1	-	6	839	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ENDOU_uc010sll.1_5'UTR|ENDOU_uc001rpt.1_Missense_Mutation_p.A188T|ENDOU_uc010slm.1_Missense_Mutation_p.A166T|uc001rpv.2_5'Flank	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	229					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						CTGAGGAAGGCGTCCTGCTCG	0.587											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48110149	C	T	48110149	3	4	250	1	0	0	0	0	1	0	0	0	5116	768	27	1	567	1	ENDOU	12	48110149	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1822737	48110149	85741746	907	124835											
COL2A1	1280	broad.mit.edu	37	chr12	48376306	48376306	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcgcctttgggcccagcGataccagctgctcccctctc	9	18	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:48376306G>A	uc001rqu.2	-	34	2461	c.2280C>T	c.(2278-2280)ATC>ATT	p.I760I	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.I691I	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	760	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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGCCCAGCGATACCAGCTG	0.632													A	48376306	G	A	48376306	2	1	250	1	0	0	0	0	0	0	0	1	3687	1048	37	1		1	COL2A1	12	48376306	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	266157	48376306	85475589	908	124836											
CCNT1	904	broad.mit.edu	37	chr12	49087737	49087737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagattctgggcagcAtatgcatattgtgacttcac	11	7	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49087737A>G	uc001rse.1	-	9	1583	c.1260T>C	c.(1258-1260)TAT>TAC	p.Y420Y	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Silent_p.Y135Y	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	420	Potential.				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			ovary(3)|lung(1)|breast(1)|skin(1)	6						TCTGGGCAGCATATGCATATT	0.463													G	49087737	A	G	49087737	2	3	250	1	0	0	0	0	0	0	0	1	2934	224	8	3		3	CCNT1	12	49087737	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	711431	49087737	84764158	909	124837											
WNT1	7471	broad.mit.edu	37	chr12	49373465	49373465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctggaactgtcccactGctccagggccccacctcttc	9	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49373465G>A	uc001rsu.2	+	2	517	c.319G>A	c.(319-321)GCT>ACT	p.A107T		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	107					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			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		CTGTCCCACTGCTCCAGGGCC	0.672													A	49373465	G	A	49373465	3	1	250	1	0	0	0	0	1	0	0	0	17378	1319	46	2	325	2	WNT1	12	49373465	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	285728	49373465	84478430	910	124838											
MLL2	8085	broad.mit.edu	37	chr12	49436573	49436573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgccttctaggccaggGgttccacaacccagatgctg	12	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49436573G>A	uc001rta.3	-	26	5733	c.5733C>T	c.(5731-5733)ACC>ACT	p.T1911T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1911					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTAGGCCAGGGGTTCCACAAC	0.542			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49436573	G	A	49436573	2	1	250	1	0	0	0	0	0	0	0	1	9621	1219	43	4		4	MLL2	12	49436573	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	63108	49436573	84415322	911	124839											
MLL2	8085	broad.mit.edu	37	chr12	49445500	49445500	+	Frame_Shift_Del	DEL	G	G	-													caggcgtgacaccacaggcaGgggggataggcgcgatacct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49445499_49445499AG>A	uc001rta.4	-	9	1967	c.1967_1967CT>T	c.(1966-1968)ctgfs	p.L656fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	656	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCACAGGCAGGGGGGATAG	0.642			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445500	G	-	49445500	7	5	250	1	0	1	0	1	0	0	0	0	9621	991	35	0	14827	0	MLL2	12	49445500	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	8927	49445500	84406395	912	124840											
PRPH	5630	broad.mit.edu	37	chr12	49691820	49691820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgagacccggaatggggaGgtgaggcaggtcccctaatg	16	8	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:49691820G>T	uc001rtu.2	+	8	1422	c.1347G>T	c.(1345-1347)GAG>GAT	p.E449D		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	449	Tail.						structural molecule activity				0						GGAATGGGGAGGTGAGGCAGG	0.547													T	49691820	G	T	49691820	3	4	250	1	0	0	0	0	1	0	0	0	12576	1014	35	5	1377	5	PRPH	12	49691820	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	246320	49691820	84160075	913	124841											
NCKAP5L	57701	broad.mit.edu	37	chr12	50190545	50190545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttagacagctgtgggggCgcctggtctggggaggatga	19	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:50190545C>T	uc009zlk.2	-	8	1300	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	362	Pro-rich.									central_nervous_system(1)	1						GCTGTGGGGGCGCCTGGTCTG	0.657													T	50190545	C	T	50190545	2	4	250	1	0	0	0	0	0	0	0	1	10224	755	27	1		1	NCKAP5L	12	50190545	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	498725	50190545	83661350	914	124842											
AQP5	362	broad.mit.edu	37	chr12	50355937	50355937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctaccatcctgcagatcgCgctggcgtttggcctggcca	12	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:50355937C>T	uc001rvo.2	+	1	659	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_001651	NP_001642	P55064	AQP5_HUMAN	aquaporin 5	46	Helical; (Potential).				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity				0						CTGCAGATCGCGCTGGCGTTT	0.677													T	50355937	C	T	50355937	3	4	250	1	0	0	0	0	1	0	0	0	829	768	27	1	139	1	AQP5	12	50355937	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	165392	50355937	83495958	915	124843											
RACGAP1	29127	broad.mit.edu	37	chr12	50390908	50390908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctggatgagagaccacaCgacagtctcgacacttcaga	9	11	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:50390908C>T	uc001rvt.2	-	12	1269	c.959G>A	c.(958-960)CGT>CAT	p.R320H	RACGAP1_uc009zlm.1_Missense_Mutation_p.R320H|RACGAP1_uc001rvs.2_Missense_Mutation_p.R320H|RACGAP1_uc001rvu.2_Missense_Mutation_p.R320H	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	320	Phorbol-ester/DAG-type.				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			kidney(1)	1						AGAGACCACACGACAGTCTCG	0.463													T	50390908	C	T	50390908	3	4	250	1	0	0	0	0	1	0	0	0	12977	536	19	1	971	1	RACGAP1	12	50390908	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	34971	50390908	83460987	916	124844											
KRT5	3852	broad.mit.edu	37	chr12	52913955	52913955	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgccgaagccaccaccAccgccacccccggaccggga	9	22	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:52913955A>G	uc001san.2	-	1	289	c.126T>C	c.(124-126)GGT>GGC	p.G42G	KRT5_uc009zmh.2_Silent_p.G42G	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	42	Head.|Gly-rich.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCACCACCACCGCCACCCC	0.672													G	52913955	A	G	52913955	2	3	250	1	0	0	0	0	0	0	0	1	8479	146	6	3		3	KRT5	12	52913955	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2523047	52913955	80937940	917	124845											
KRT76	51350	broad.mit.edu	37	chr12	53170507	53170507	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcaaacttgttgttgAgggtcttgatctgttcccgc	13	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53170507A>C	uc001sax.2	-	1	623	c.569T>G	c.(568-570)CTC>CGC	p.L190R		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	190	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						CTTGTTGTTGAGGGTCTTGAT	0.522													C	53170507	A	C	53170507	3	2	250	1	0	0	0	0	1	0	0	0	8489	304	11	5	1383	5	KRT76	12	53170507	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	256552	53170507	80681388	918	124846											
PFDN5	5204	broad.mit.edu	37	chr12	53691644	53691644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcagatgtatgtccCtgggaagctgcatgatgtgg	13	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53691644C>T	uc001scl.2	+	4	335	c.218C>T	c.(217-219)CCT>CTT	p.P73L	PFDN5_uc001scm.2_Missense_Mutation_p.P28L|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	73					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						ATGTATGTCCCTGGGAAGCTG	0.522													T	53691644	C	T	53691644	3	4	250	1	0	0	0	0	1	0	0	0	11758	681	24	4	232	4	PFDN5	12	53691644	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	521137	53691644	80160251	919	124847											
SP1	6667	broad.mit.edu	37	chr12	53775576	53775576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcacaggcagtagcagCagcactggaggaggagggca	17	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53775576C>T	uc001scw.2	+	2	238	c.141C>T	c.(139-141)AGC>AGT	p.S47S	SP1_uc010sog.1_Silent_p.S40S	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	47	Ser/Thr-rich.|Repressor domain.				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			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCAGTAGCAGCAGCACTGGAG	0.453											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53775576	C	T	53775576	2	4	250	1	0	0	0	0	0	0	0	1	14959	709	25	2		2	SP1	12	53775576	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	83932	53775576	80076319	920	124848											
PCBP2	5094	broad.mit.edu	37	chr12	53856278	53856278	+	Frame_Shift_Del	DEL	C	C	-													ccctctgactctctcccagtCccccccgaagggcgtgacca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:53856277_53856277TC>T	uc001sdl.4	+	7	867	c.517_517TC>T	c.(517-519)tccfs	p.S173fs	PCBP2_uc001sde.4_Splice_Site_p.S169_splice|PCBP2_uc001sdi.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdd.4_Splice_Site_p.S169_splice|PCBP2_uc001sdf.4_Splice_Site_p.S169_splice|PCBP2_uc001sdc.4_Frame_Shift_Del_p.S173fs|PCBP2_uc001sdb.4_Splice_Site_p.S169_splice|PCBP2_uc010soi.2_5'UTR|PCBP2_uc010soj.2_5'UTR|PCBP2_uc001sdk.4_Splice_Site|PCBP2_uc010soh.1_Splice_Site_p.S169_splice	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAA	0.498													-	53856278	C	-	53856278	7	5	250	1	0	1	0	1	0	0	0	0	11501	869	30	0	544	0	PCBP2	12	53856278	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	80702	53856278	79995617	921	124849											
NFE2	4778	broad.mit.edu	37	chr12	54686543	54686543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcattaaagtcatctaccGgcaagttgacaatcttgtcc	7	11	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:54686543G>A	uc009znk.2	-	2	1247	c.737C>T	c.(736-738)CCG>CTG	p.P246L	NFE2_uc001sfq.2_Missense_Mutation_p.P246L|NFE2_uc001sfr.3_Missense_Mutation_p.P246L|NFE2_uc009znl.2_Missense_Mutation_p.P246L	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	246					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				0						GTCATCTACCGGCAAGTTGAC	0.572													A	54686543	G	A	54686543	3	1	250	1	0	0	0	0	1	0	0	0	10366	1116	39	1	388	1	NFE2	12	54686543	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	830265	54686543	79165352	922	124850											
ITGA7	3679	broad.mit.edu	37	chr12	56078944	56078944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccgccgggggctgccCcagttgttcctcaggatggt	13	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56078944C>A	uc001shh.2	-	25	3544	c.3324G>T	c.(3322-3324)TGG>TGT	p.W1108C	ITGA7_uc001shg.2_Missense_Mutation_p.W1104C|ITGA7_uc010sps.1_Missense_Mutation_p.W1011C|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Missense_Mutation_p.W351C|ITGA7_uc009znx.2_Missense_Mutation_p.W985C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1148	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GGGGGCTGCCCCAGTTGTTCC	0.682													A	56078944	C	A	56078944	3	1	250	1	0	0	0	0	1	0	0	0	7881	624	22	5	105	5	ITGA7	12	56078944	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1392401	56078944	77772951	923	124851											
ERBB3	2065	broad.mit.edu	37	chr12	56481659	56481659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgccatgatgagtgtGccgggggctgctcaggccct	16	11	1	2	rs67617070		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56481659G>A	uc001sjh.2	+	6	887	c.694G>A	c.(694-696)GCC>ACC	p.A232T	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.A173T|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	232	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGATGAGTGTGCCGGGGGCTG	0.542													A	56481659	G	A	56481659	3	1	250	1	0	0	0	0	1	0	0	0	5208	1319	46	2	847	2	ERBB3	12	56481659	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	402715	56481659	77370236	924	124852											
ERBB3	2065	broad.mit.edu	37	chr12	56487185	56487185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcacatctctgggcttccGatccctgaaggaaattagtg	10	10	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56487185G>A	uc001sjh.2	+	12	1524	c.1331G>A	c.(1330-1332)CGA>CAA	p.R444Q	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R385Q|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R12Q	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	444	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGCTTCCGATCCCTGAAG	0.493													A	56487185	G	A	56487185	3	1	250	1	0	0	0	0	1	0	0	0	5208	1058	37	1	1508	1	ERBB3	12	56487185	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5526	56487185	77364710	925	124853											
SMARCC2	6601	broad.mit.edu	37	chr12	56561898	56561898	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcctcaaagtgccgaagtttGatctccaactttttcatctg	6	11	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56561898G>C	uc001skb.2	-	25	2809	c.2703C>G	c.(2701-2703)ATC>ATG	p.I901M	SMARCC2_uc001skd.2_Missense_Mutation_p.I932M|SMARCC2_uc001ska.2_Missense_Mutation_p.I932M|SMARCC2_uc001skc.2_Missense_Mutation_p.I931M|SMARCC2_uc010sqf.1_Missense_Mutation_p.I821M	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	901					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	p.I901M(1)		lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCCGAAGTTTGATCTCCAACT	0.547													C	56561898	G	C	56561898	3	2	250	1	0	0	0	0	1	0	0	0	14776	1280	45	5	957	5	SMARCC2	12	56561898	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	74713	56561898	77289997	926	124854											
SMARCC2	6601	broad.mit.edu	37	chr12	56567584	56567584	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggggttggtcgactctcagCatccacctggtagttaataa	11	9	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:56567584C>G	uc001skb.2	-	17	1652	c.1546G>C	c.(1546-1548)GCT>CCT	p.A516P	SMARCC2_uc001skd.2_Missense_Mutation_p.A516P|SMARCC2_uc001ska.2_Missense_Mutation_p.A516P|SMARCC2_uc001skc.2_Missense_Mutation_p.A516P|SMARCC2_uc010sqf.1_Missense_Mutation_p.A405P	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	516	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			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CGACTCTCAGCATCCACCTGG	0.572													G	56567584	C	G	56567584	3	3	250	1	0	0	0	0	1	0	0	0	14776	710	25	5	2243	5	SMARCC2	12	56567584	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5686	56567584	77284311	927	124855											
ZBTB39	9880	broad.mit.edu	37	chr12	57397473	57397475	+	In_Frame_Del	DEL	AAG	AAG	-													gggtcagctgccactgggtaAagaacttagtttcacacatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:57397472_57397474AAAG>A	uc001sml.2	-	1	1381_1383	c.1228_1230CTTT>T	c.(1228-1230)ttt>T	p.F410del	ZBTB39_uc021qzg.1_In_Frame_Del_p.F410del	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	410					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						GCCACTGGGTAAAGAACTTAGTT	0.512													-	57397475	AAG	-	57397473	7	5	250	1	0	1	0	1	0	0	0	0	17537	14	1	0	913	0	ZBTB39	12	57397473	In_Frame_Del	DEL	AAG	TCGA-HF-7132-01A-11D-2053-08	829889	57397473	76454422	928	124856											
INHBC	3626	broad.mit.edu	37	chr12	57843561	57843561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccagcctgagggctacgCcatgaacttctgcatagggc	11	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:57843561C>T	uc001snv.1	+	2	942	c.815C>T	c.(814-816)GCC>GTC	p.A272V		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	272					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						GAGGGCTACGCCATGAACTTC	0.542													T	57843561	C	T	57843561	3	4	250	1	0	0	0	0	1	0	0	0	7743	739	26	2	821	2	INHBC	12	57843561	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	446088	57843561	76008334	929	124857											
AVPR1A	552	broad.mit.edu	37	chr12	63544480	63544480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggccagctcctcgttgCgcacgtccctcggtgggccg	14	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:63544480C>T	uc001sro.1	-	1	2111	c.137G>A	c.(136-138)CGC>CAC	p.R46H		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	46	Extracellular (Potential).				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				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCCTCGTTGCGCACGTCCCT	0.697													T	63544480	C	T	63544480	3	4	250	1	0	0	0	0	1	0	0	0	1231	768	27	1	1127	1	AVPR1A	12	63544480	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5700919	63544480	70307415	930	124858											
TBK1	29110	broad.mit.edu	37	chr12	64891772	64891772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaattaaaggaagagatGgaaggggtggttaaagaact	14	1	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:64891772G>T	uc001ssc.1	+	20	2153	c.2091G>T	c.(2089-2091)ATG>ATT	p.M697I		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	697	Potential.				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			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		AGGAAGAGATGGAAGGGGTGG	0.294													T	64891772	G	T	64891772	3	4	250	1	0	0	0	0	1	0	0	0	15634	1348	47	5	2165	5	TBK1	12	64891772	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1347292	64891772	68960123	931	124859											
GRIP1	23426	broad.mit.edu	37	chr12	66800084	66800084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattatcttcatctttgcGgattttgagcttcaccaggt	8	8	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:66800084G>A	uc001stk.2	-	15	2048	c.1807C>T	c.(1807-1809)CGC>TGC	p.R603C	GRIP1_uc010sta.1_Missense_Mutation_p.R547C|GRIP1_uc001stj.2_Missense_Mutation_p.R385C|GRIP1_uc001stl.1_Missense_Mutation_p.R495C|GRIP1_uc001stm.2_Missense_Mutation_p.R603C	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	655	PDZ 5.				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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATCTTTGCGGATTTTGAGC	0.393													A	66800084	G	A	66800084	3	1	250	1	0	0	0	0	1	0	0	0	6787	1116	39	1	1463	1	GRIP1	12	66800084	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1908312	66800084	67051811	932	124860											
E2F7	144455	broad.mit.edu	37	chr12	77440093	77440093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttacaatgtcatagatgCgtctcctttccacacctgtt	5	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:77440093C>T	uc001sym.3	-	5	790	c.554G>A	c.(553-555)CGC>CAC	p.R185H	E2F7_uc001syn.2_Missense_Mutation_p.R185H	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	185	Potential.			R->A: Loss of DNA-binding and inhibition of E2F1-dependent activation.	cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						GTCATAGATGCGTCTCCTTTC	0.488													T	77440093	C	T	77440093	3	4	250	1	0	0	0	0	1	0	0	0	4872	768	27	1	2217	1	E2F7	12	77440093	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	10640009	77440093	56411802	933	124861											
NAV3	89795	broad.mit.edu	37	chr12	78225343	78225343	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcttggcactactgggtcAcagcactgttcttcaagacc	8	12	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:78225343A>G	uc001syp.2	+	1	275	c.102A>G	c.(100-102)TCA>TCG	p.S34S	NAV3_uc001syo.2_Silent_p.S34S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	34						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTACTGGGTCACAGCACTGTT	0.473										HNSCC(70;0.22)			G	78225343	A	G	78225343	2	3	250	1	0	0	0	0	0	0	0	1	10185	146	6	3		3	NAV3	12	78225343	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	785250	78225343	55626552	934	124862											
NAV3	89795	broad.mit.edu	37	chr12	78592446	78592446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaaatctagagctgcatCacaatttcaggtaaagttaa	6	9	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:78592446C>T	uc001syp.2	+	36	6681	c.6508C>T	c.(6508-6510)CAC>TAC	p.H2170Y	NAV3_uc001syo.2_Missense_Mutation_p.H2148Y|NAV3_uc010sub.1_Missense_Mutation_p.H1627Y|NAV3_uc009zsf.2_Missense_Mutation_p.H979Y	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2170						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AGAGCTGCATCACAATTTCAG	0.348										HNSCC(70;0.22)			T	78592446	C	T	78592446	3	4	250	1	0	0	0	0	1	0	0	0	10185	826	29	4	6580	4	NAV3	12	78592446	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	367103	78592446	55259449	935	124863											
PPFIA2	8499	broad.mit.edu	37	chr12	82147944	82147944	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgagccactgctttgggaCcccctttggctcattggggt	12	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:82147944C>A	uc001szo.1	-	3	218	c.57G>T	c.(55-57)GGG>GGT	p.G19G	PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(3)|lung(2)|pancreas(1)	6						TGCTTTGGGACCCCCTTTGGC	0.478													A	82147944	C	A	82147944	2	1	250	1	0	0	0	0	0	0	0	1	12310	494	18	5		5	PPFIA2	12	82147944	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3555498	82147944	51703951	936	124864											
RASSF9	9182	broad.mit.edu	37	chr12	86198882	86198882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgcagcttccccttcCgcatcttcatttatatcaat	3	14	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:86198882C>T	uc001taf.1	-	2	1245	c.906G>A	c.(904-906)GCG>GCA	p.A302A		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	302					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						CTTCCCCTTCCGCATCTTCAT	0.363													T	86198882	C	T	86198882	2	4	250	1	0	0	0	0	0	0	0	1	13093	639	23	1		1	RASSF9	12	86198882	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4050938	86198882	47653013	937	124865											
GALNT4	8693	broad.mit.edu	37	chr12	89917656	89917656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgacaatccaggaaaGtgaggacgtccccagtggcg	13	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:89917656G>A	uc001tbd.2	-	1	880	c.671C>T	c.(670-672)ACT>ATT	p.T224I	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.T221I|GALNT4_uc010suo.1_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	224	Lumenal (Potential).|Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0						ATCCAGGAAAGTGAGGACGTC	0.507											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	89917656	G	A	89917656	3	1	250	1	0	0	0	0	1	0	0	0	6215	1029	36	4	1069	4	GALNT4	12	89917656	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3718774	89917656	43934239	938	124866											
EEA1	8411	broad.mit.edu	37	chr12	93170622	93170622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaaaattatttacccGtctcactgttactgaaaagc	5	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:93170622G>A	uc001tck.2	-	28	4376	c.4111C>T	c.(4111-4113)CGG>TGG	p.R1371W		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1371	FYVE-type.			R->A: Abolishes phosphatidylinositol 3- phosphate binding and endosomal location.	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			ovary(2)|skin(1)	3						TTATTTACCCGTCTCACTGTT	0.348													A	93170622	G	A	93170622	3	1	250	1	0	0	0	0	1	0	0	0	4921	1144	40	1	132	1	EEA1	12	93170622	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3252966	93170622	40681273	939	124867											
PLXNC1	10154	broad.mit.edu	37	chr12	94620456	94620456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccccttcacagcttgCgacccttctgattatgagag	7	14	2	2	rs139278274	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:94620456C>T	uc001tdc.2	+	8	2115	c.1866C>T	c.(1864-1866)TGC>TGT	p.C622C		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	622	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TCACAGCTTGCGACCCTTCTG	0.363													T	94620456	C	T	94620456	2	4	250	1	0	0	0	0	0	0	0	1	12126	776	27	1		1	PLXNC1	12	94620456	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1449834	94620456	39231439	940	124868											
VEZT	55591	broad.mit.edu	37	chr12	95663938	95663939	+	Frame_Shift_Ins	INS	-	-	T													ccaacttccaagcagcaaggINSctagctaccctatatatgct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:95663938_95663939insT	uc001tdz.2	+	6	927_928	c.822_823insT	c.(820-825)AGGCTAfs	p.R274fs	VEZT_uc009zsy.1_Frame_Shift_Ins_p.R120fs|VEZT_uc001tdr.2_Frame_Shift_Ins_p.R116fs|VEZT_uc001tds.2_Frame_Shift_Ins_p.R226fs|VEZT_uc001tdt.2_Frame_Shift_Ins_p.R230fs|VEZT_uc009zsz.1_Frame_Shift_Ins_p.R278fs|VEZT_uc001tdv.2_Frame_Shift_Ins_p.R247fs|VEZT_uc001tdw.1_Frame_Shift_Ins_p.R230fs|VEZT_uc009zta.1_Frame_Shift_Ins_p.R230fs	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	274_275						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						AAGCAGCAAGGCTAGCTACCCT	0.391													T	95663939	-	T	95663938	7	5	250	1	0	1	1	0	0	0	0	0	17153	1194	42	0	844	0	VEZT	12	95663938	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1043482	95663938	38187957	941	124869											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100453799	100453799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtagtgcattcagctgGctatagaggttgggagatgg	15	5	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:100453799G>A	uc001tgq.2	-	13	1801	c.1572C>T	c.(1570-1572)AGC>AGT	p.S524S	UHRF1BP1L_uc001tgp.2_Silent_p.S174S	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	524										ovary(2)	2						CATTCAGCTGGCTATAGAGGT	0.343													A	100453799	G	A	100453799	2	1	250	1	0	0	0	0	0	0	0	1	16966	1194	42	2		2	UHRF1BP1L	12	100453799	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4789861	100453799	33398096	942	124870											
ACTR6	64431	broad.mit.edu	37	chr12	100606103	100606103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtatgctatgtgtctcaGgatttttatagagacatgga	11	4	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:100606103G>T	uc001thb.1	+	7	698	c.642G>T	c.(640-642)CAG>CAT	p.Q214H	ACTR6_uc001thc.1_Missense_Mutation_p.Q106H|ACTR6_uc001thd.1_Missense_Mutation_p.Q214H|ACTR6_uc009ztu.1_Missense_Mutation_p.Q19H|ACTR6_uc001the.1_Missense_Mutation_p.Q132H|ACTR6_uc001thf.1_Missense_Mutation_p.Q132H|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	214						cytoplasm|cytoskeleton				ovary(1)	1						ATGTGTCTCAGGATTTTTATA	0.308													T	100606103	G	T	100606103	3	4	250	1	0	0	0	0	1	0	0	0	216	991	35	5	668	5	ACTR6	12	100606103	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	152304	100606103	33245792	943	124871											
NR1H4	9971	broad.mit.edu	37	chr12	100957095	100957095	+	Frame_Shift_Del	DEL	A	A	-													gccacttcttgatgtgctacAaaagttgtgtaagattcacc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:100957094_100957094CA>C	uc001tht.2	+	8	1316	c.1288_1288CA>C	c.(1288-1290)caafs	p.Q430fs	NR1H4_uc001thq.2_Frame_Shift_Del_p.Q420fs|NR1H4_uc001thp.2_Frame_Shift_Del_p.Q416fs|NR1H4_uc001thr.2_Frame_Shift_Del_p.Q420fs|NR1H4_uc010svk.2_Frame_Shift_Del_p.Q369fs|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Frame_Shift_Del_p.Q426fs	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	430	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						TGATGTGCTACAAAAGTTGTG	0.398													-	100957095	A	-	100957095	7	5	250	1	0	1	0	1	0	0	0	0	10619	130	5	0	1281	0	NR1H4	12	100957095	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	350992	100957095	32894800	944	124872											
MYBPC1	4604	broad.mit.edu	37	chr12	102069194	102069194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctataccattcagaaggcTgacaagaagagcatggtaag	12	7	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:102069194T>C	uc001tii.2	+	25	3015	c.2913T>C	c.(2911-2913)GCT>GCC	p.A971A	MYBPC1_uc001tig.2_Silent_p.A978A|MYBPC1_uc010svq.1_Silent_p.A940A|MYBPC1_uc001tih.2_Silent_p.A978A|MYBPC1_uc001tij.2_Silent_p.A953A|MYBPC1_uc010svr.1_Silent_p.A953A|MYBPC1_uc010svs.1_Silent_p.A971A|MYBPC1_uc010svt.1_Silent_p.A941A|MYBPC1_uc010svu.1_Silent_p.A934A|MYBPC1_uc001tik.2_Silent_p.A927A|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	971	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						TTCAGAAGGCTGACAAGAAGA	0.473													C	102069194	T	C	102069194	2	2	250	1	0	0	0	0	0	0	0	1	10011	1567	55	3		3	MYBPC1	12	102069194	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1112099	102069194	31782701	945	124873											
CMKLR1	1240	broad.mit.edu	37	chr12	108686284	108686284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtaagccaggcgaacGctgcggtggttctgggacca	15	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:108686284G>A	uc009zuw.2	-	3	647	c.456C>T	c.(454-456)AGC>AGT	p.S152S	CMKLR1_uc001tmw.2_Silent_p.S152S|CMKLR1_uc001tmv.2_Silent_p.S150S|CMKLR1_uc009zuv.2_Silent_p.S152S	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	152	Cytoplasmic (Potential).				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			lung(3)|ovary(1)|pancreas(1)	5						CCAGGCGAACGCTGCGGTGGT	0.572													A	108686284	G	A	108686284	2	1	250	1	0	0	0	0	0	0	0	1	3579	1078	38	1		1	CMKLR1	12	108686284	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6617090	108686284	25165611	946	124874											
USP30	84749	broad.mit.edu	37	chr12	109509448	109509448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attattccatgtcattacctCgtcattggaagatgagcgag	9	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:109509448C>T	uc010sxi.1	+	5	616	c.512C>T	c.(511-513)TCG>TTG	p.S171L	USP30_uc001tnu.3_Missense_Mutation_p.S140L	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	171	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						GTCATTACCTCGTCATTGGAA	0.468													T	109509448	C	T	109509448	3	4	250	1	0	0	0	0	1	0	0	0	17058	893	31	1	530	1	USP30	12	109509448	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	823164	109509448	24342447	947	124875											
MMAB	326625	broad.mit.edu	37	chr12	110006573	110006573	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccaatcctgtcccccttAcccaatagctgaacttaatt	5	14	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:110006573A>G	uc001tou.2	-	3	363	c.290_splice	c.e3+1	p.G97_splice	MMAB_uc001tov.2_Splice_Site|MMAB_uc001tow.2_Splice_Site|MMAB_uc010sxq.1_Splice_Site|MMAB_uc001tox.2_Intron	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor						cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCCCCCTTACCCAATAGCT	0.488													G	110006573	A	G	110006573	5	3	250	1	0	0	0	0	0	0	1	0	9640	405	14	3	488	3	MMAB	12	110006573	Splice_Site	SNP	A	TCGA-HF-7132-01A-11D-2053-08	497125	110006573	23845322	948	124876											
RPH3A	22895	broad.mit.edu	37	chr12	113314521	113314521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggagtcgggggctacccaGcagttggagccagagaggac	19	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:113314521G>T	uc010syl.1	+	13	1383	c.1021G>T	c.(1021-1023)GCA>TCA	p.A341S	RPH3A_uc001ttz.2_Missense_Mutation_p.A341S|RPH3A_uc001tty.2_Missense_Mutation_p.A337S|RPH3A_uc009zwe.1_Missense_Mutation_p.A337S|RPH3A_uc010sym.1_Missense_Mutation_p.A292S|RPH3A_uc001tua.2_Missense_Mutation_p.A101S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	341	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGCTACCCAGCAGTTGGAGC	0.662													T	113314521	G	T	113314521	3	4	250	1	0	0	0	0	1	0	0	0	13551	971	34	5	1063	5	RPH3A	12	113314521	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3307948	113314521	20537374	949	124877											
LHX5	64211	broad.mit.edu	37	chr12	113906026	113906026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgaaggcagccttgagcGtctccagctgcttggccttg	14	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:113906026G>A	uc001tvj.1	-	3	1155	c.581C>T	c.(580-582)ACG>ATG	p.T194M		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	194	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCCTTGAGCGTCTCCAGCTG	0.682													A	113906026	G	A	113906026	3	1	250	1	0	0	0	0	1	0	0	0	8774	1145	40	1	639	1	LHX5	12	113906026	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	591505	113906026	19945869	950	124878											
LHX5	64211	broad.mit.edu	37	chr12	113909232	113909232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacacatttgatgtgccaCgcgcggtccagcacgttcag	11	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:113909232C>T	uc001tvj.1	-	1	646	c.72G>A	c.(70-72)GCG>GCA	p.A24A		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	24	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGATGTGCCACGCGCGGTCCA	0.612													T	113909232	C	T	113909232	2	4	250	1	0	0	0	0	0	0	0	1	8774	523	19	1		1	LHX5	12	113909232	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3206	113909232	19942663	951	124879											
TBX5	6910	broad.mit.edu	37	chr12	114793771	114793771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatacatgcaagcttgccGctgtgccgactctgtcctgt	11	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:114793771G>A	uc001tvo.2	-	9	1618	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W	TBX5_uc001tvp.2_Missense_Mutation_p.R375W|TBX5_uc001tvq.2_Missense_Mutation_p.R325W	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	375					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	p.R375W(1)		ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAAGCTTGCCGCTGTGCCGAC	0.592													A	114793771	G	A	114793771	3	1	250	1	0	0	0	0	1	0	0	0	15658	1086	38	1	437	1	TBX5	12	114793771	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	884539	114793771	19058124	952	124880											
RNFT2	84900	broad.mit.edu	37	chr12	117217143	117217143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagatcatcctggctgTcaagtccaaggtaggcactg	11	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:117217143T>C	uc009zwn.2	+	7	1105	c.872T>C	c.(871-873)GTC>GCC	p.V291A	RNFT2_uc001twb.3_Missense_Mutation_p.V291A|RNFT2_uc001twa.3_Missense_Mutation_p.V201A|RNFT2_uc001twc.3_Missense_Mutation_p.V39A	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	291	Cytoplasmic (Potential).					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ATCCTGGCTGTCAAGTCCAAG	0.547													C	117217143	T	C	117217143	3	2	250	1	0	0	0	0	1	0	0	0	13502	1667	58	3	894	3	RNFT2	12	117217143	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	2423372	117217143	16634752	953	124881											
FBXW8	26259	broad.mit.edu	37	chr12	117387463	117387464	+	Frame_Shift_Del	DEL	AC	AC	-													cgagctggagcatgttcctgAcacagttttgtgtgatgtgc					rs145405264		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:117387462_117387463GAC>G	uc001twg.1	+	3	710_711	c.628_629GAC>G	c.(628-630)gacfs	p.D210fs	FBXW8_uc001twf.1_Frame_Shift_Del_p.D144fs	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	210							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCATGTTCCTGACACAGTTTTG	0.52													-	117387464	AC	-	117387463	7	5	250	1	0	1	0	1	0	0	0	0	5770	275	10	0	643	0	FBXW8	12	117387463	Frame_Shift_Del	DEL	AC	TCGA-HF-7132-01A-11D-2053-08	170320	117387463	16464432	954	124882											
KSR2	283455	broad.mit.edu	37	chr12	117962692	117962692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgaggcgggctcatgcaGgcacccatgaaaagcaccac	13	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:117962692G>A	uc001two.2	-	14	2152	c.2097C>T	c.(2095-2097)GCC>GCT	p.A699A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	728	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTCATGCAGGCACCCATGA	0.502													A	117962692	G	A	117962692	2	1	250	1	0	0	0	0	0	0	0	1	8582	987	35	4		4	KSR2	12	117962692	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	575229	117962692	15889203	955	124883											
CIT	11113	broad.mit.edu	37	chr12	120156088	120156088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgcggctggatggcGgggccagcaggctcatggca	16	12	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:120156088G>A	uc001txi.1	-	31	4057	c.4004C>T	c.(4003-4005)CCG>CTG	p.P1335L	CIT_uc001txh.1_Missense_Mutation_p.P854L|CIT_uc001txj.1_Missense_Mutation_p.P1377L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1335					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTGGATGGCGGGGCCAGCAG	0.577													A	120156088	G	A	120156088	3	1	250	1	0	0	0	0	1	0	0	0	3438	1116	39	1	2147	1	CIT	12	120156088	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2193396	120156088	13695807	956	124884											
GCN1L1	10985	broad.mit.edu	37	chr12	120584908	120584908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatctgggctgccatcttcCgcgtgtccgtggaacggtcc	12	13	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:120584908C>T	uc001txo.2	-	38	4908	c.4895G>A	c.(4894-4896)CGG>CAG	p.R1632Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1632	HEAT 11.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCATCTTCCGCGTGTCCGT	0.552													T	120584908	C	T	120584908	3	4	250	1	0	0	0	0	1	0	0	0	6299	652	23	1	3204	1	GCN1L1	12	120584908	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	428820	120584908	13266987	957	124885											
WDR66	144406	broad.mit.edu	37	chr12	122361622	122361622	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcacacaaattgaatTtcttgatttggatcaaatca	6	8	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:122361622T>G	uc009zxk.2	+	3	615	c.473T>G	c.(472-474)TTT>TGT	p.F158C		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	158							calcium ion binding			ovary(1)|skin(1)	2	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)		CAAATTGAATTTCTTGATTTG	0.438													G	122361622	T	G	122361622	3	3	250	1	0	0	0	0	1	0	0	0	17314	1841	64	5	479	5	WDR66	12	122361622	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1776714	122361622	11490273	958	124886											
LRRC43	254050	broad.mit.edu	37	chr12	122667814	122667814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcggaagctgtgtctgcgCgagttcccgtgcggtgccgg	17	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:122667814C>T	uc009zxm.2	+	1	148	c.123C>T	c.(121-123)CGC>CGT	p.R41R	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	41											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGTGTCTGCGCGAGTTCCCGT	0.771													T	122667814	C	T	122667814	2	4	250	1	0	0	0	0	0	0	0	1	9001	755	27	1		1	LRRC43	12	122667814	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	306192	122667814	11184081	959	124887											
LRRC43	254050	broad.mit.edu	37	chr12	122676097	122676097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcgaaatgaatgagtccGcgggcgtcctggccgaggtg	17	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:122676097G>A	uc009zxm.2	+	6	1097	c.1072G>A	c.(1072-1074)GCG>ACG	p.A358T	LRRC43_uc001ubw.3_Missense_Mutation_p.A173T|LRRC43_uc009zxn.2_Missense_Mutation_p.A119T	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	358	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GAATGAGTCCGCGGGCGTCCT	0.527											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	122676097	G	A	122676097	3	1	250	1	0	0	0	0	1	0	0	0	9001	1087	38	1	1094	1	LRRC43	12	122676097	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	8283	122676097	11175798	960	124888											
SBNO1	55206	broad.mit.edu	37	chr12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T													tcccatatcatatcttccatINStttttttggcattttgaaca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		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)		CATATCTTCCATTTTTTTTGGC	0.386													T	123794284	-	T	123794283	7	5	250	1	0	1	1	0	0	0	0	0	13862	1493	52	0	793	0	SBNO1	12	123794283	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1118186	123794283	10057612	961	124889											
SBNO1	55206	broad.mit.edu	37	chr12	123829930	123829930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaggtgcagaggtcatgGcatttcgtactgttggtgct	14	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:123829930G>A	uc010tap.1	-	3	425	c.425C>T	c.(424-426)GCC>GTC	p.A142V	SBNO1_uc010tao.1_Missense_Mutation_p.A141V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.A142V|SBNO1_uc001ueu.2_Missense_Mutation_p.A141V|SBNO1_uc001uev.2_Missense_Mutation_p.A140V|SBNO1_uc009zxy.1_Missense_Mutation_p.A107V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	142							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGAGGTCATGGCATTTCGTAC	0.413													A	123829930	G	A	123829930	3	1	250	1	0	0	0	0	1	0	0	0	13862	1203	42	2	3872	2	SBNO1	12	123829930	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	35647	123829930	10021965	962	124890											
SLC15A4	121260	broad.mit.edu	37	chr12	129299599	129299599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctcctagtggcttccGgacctcgatctttaacctaa	6	12	2	0	rs144816528	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:129299599G>A	uc001uhu.2	-	2	616	c.563C>T	c.(562-564)CCG>CTG	p.P188L	SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	188					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGCTTCCGGACCTCGATC	0.403													A	129299599	G	A	129299599	3	1	250	1	0	0	0	0	1	0	0	0	14401	1116	39	1	1198	1	SLC15A4	12	129299599	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5469669	129299599	4552296	963	124891											
FZD10	11211	broad.mit.edu	37	chr12	130647672	130647672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggccacgagaaccagcGcgaggcagccatccagttgc	14	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:130647672G>A	uc001uii.2	+	1	641	c.185G>A	c.(184-186)CGC>CAC	p.R62H	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	62	FZ.|Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		GAGAACCAGCGCGAGGCAGCC	0.637													A	130647672	G	A	130647672	3	1	250	1	0	0	0	0	1	0	0	0	6129	1087	38	1	187	1	FZD10	12	130647672	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1348073	130647672	3204223	964	124892											
SFRS8	6433	broad.mit.edu	37	chr12	132281836	132281836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccggcccgcggcccccgCggcccactcggcgcactcag	13	23	1	0	rs140639709	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr12:132281836C>T	uc001uja.1	+	16	2788	c.2648C>T	c.(2647-2649)GCG>GTG	p.A883V	SFRS8_uc010tbn.1_Missense_Mutation_p.A935V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	883	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		gcggcccccgcggcccACTCG	0.557													T	132281836	C	T	132281836	3	4	250	1	0	0	0	0	1	0	0	0	14183	768	27	1	2710	1	SFRS8	12	132281836	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1634164	132281836	1570059	965	124893											
PSPC1	55269	broad.mit.edu	37	chr13	20346616	20346617	+	Frame_Shift_Del	DEL	AG	AG	-													gtgtagcgaagcgaatccgtAgaggtctgctcttgagaatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:20346615_20346616TAG>T	uc021rgx.1	-	2	577_578	c.440_441CTA>A	c.(439-441)ctafs	p.L147fs		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	147	RRM 1.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein 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)		AGCGAATCCGTAGAGGTCTGCT	0.446													-	20346617	AG	-	20346616	7	5	250	1	0	1	0	1	0	0	0	0	12716	420	15	0	1163	0	PSPC1	13	20346616	Frame_Shift_Del	DEL	AG	TCGA-HF-7132-01A-11D-2053-08		20346616	94823262	966	124894											
SACS	26278	broad.mit.edu	37	chr13	23905203	23905203	+	Frame_Shift_Del	DEL	G	G	-													gaggaatgcttctcaggccaGgggtgaggaactcagtgggg					rs146376949	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:23905202_23905202AG>A	uc001uon.2	-	9	13402	c.12813_12813CT>T	c.(12811-12813)cctfs	p.P4271fs	SACS_uc001uoo.2_Frame_Shift_Del_p.P4124fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4271					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone 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)		TTCTCAGGCCAGGGGTGAGGA	0.478													-	23905203	G	-	23905203	7	5	250	1	0	1	0	1	0	0	0	0	13804	1000	35	0	931	0	SACS	13	23905203	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	3558587	23905203	91264675	967	124895											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233225	24233225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtgaagatcgcgtccaCggcctccagcccacgggaca	11	17	0	2	rs139502219		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:24233225C>T	uc001uov.1	+	6	546	c.482C>T	c.(481-483)ACG>ATG	p.T161M	TNFRSF19_uc001uot.2_Missense_Mutation_p.T161M|TNFRSF19_uc010tcu.1_Missense_Mutation_p.T29M|TNFRSF19_uc001uow.2_Missense_Mutation_p.T161M	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	161	Extracellular (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		ATCGCGTCCACGGCCTCCAGC	0.587													T	24233225	C	T	24233225	3	4	250	1	0	0	0	0	1	0	0	0	16289	536	19	1	500	1	TNFRSF19	13	24233225	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	328022	24233225	90936653	968	124896											
FLT1	2321	broad.mit.edu	37	chr13	28897011	28897011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggtgacgctatctaGtcttggtttcttgccttgtt	11	9	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:28897011G>T	uc001usb.3	-	21	3154	c.2869C>A	c.(2869-2871)CTA>ATA	p.L957I	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.L82I|FLT1_uc001usa.3_Missense_Mutation_p.L175I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	957	Cytoplasmic (Potential).|Protein kinase.				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	ACGCTATCTAGTCTTGGTTTC	0.478													T	28897011	G	T	28897011	3	4	250	1	0	0	0	0	1	0	0	0	5941	1020	36	5	1187	5	FLT1	13	28897011	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4663786	28897011	86272867	969	124897											
C13orf33	84935	broad.mit.edu	37	chr13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-													cggggagccggcggcggcgcGggggggcttcaacgtcttcg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582													-	31480852	G	-	31480852	7	5	250	1	0	1	0	1	0	0	0	0	1727	1116	39	0	202	0	C13orf33	13	31480852	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	2583841	31480852	83689026	970	124898											
FRY	10129	broad.mit.edu	37	chr13	32758746	32758746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctacacagaacaagaaaCgccgagaacggcgagacttg	10	10	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:32758746C>T	uc001utx.2	+	25	3560	c.3064C>T	c.(3064-3066)CGC>TGC	p.R1022C	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		GAACAAGAAACGCCGAGAACG	0.368													T	32758746	C	T	32758746	3	4	250	1	0	0	0	0	1	0	0	0	6063	536	19	1	3162	1	FRY	13	32758746	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1277894	32758746	82411132	971	124899											
BRCA2	675	broad.mit.edu	37	chr13	32912505	32912505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcataacttagaatttgatgGcagtgattcaagtaaaaatg	8	4	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:32912505G>A	uc001uub.1	+	11	4240	c.4013G>A	c.(4012-4014)GGC>GAC	p.G1338D		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1338					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	p.G1338G(1)		ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		GAATTTGATGGCAGTGATTCA	0.303			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32912505	G	A	32912505	3	1	250	1	0	0	0	0	1	0	0	0	1499	1203	42	2	4051	2	BRCA2	13	32912505	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	153759	32912505	82257373	972	124900											
BRCA2	675	broad.mit.edu	37	chr13	32914237	32914237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataatgatgaatgtagcacGcattcacataaggtttttgc	9	6	1	2	rs1799953		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:32914237G>A	uc001uub.1	+	11	5972	c.5745G>A	c.(5743-5745)ACG>ACA	p.T1915T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1915					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		AATGTAGCACGCATTCACATA	0.343			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32914237	G	A	32914237	2	1	250	1	0	0	0	0	0	0	0	1	1499	1074	38	1		1	BRCA2	13	32914237	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1732	32914237	82255641	973	124901											
NBEA	26960	broad.mit.edu	37	chr13	35517248	35517248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtggagacggtgctcaaCctggtaaggaaaaggcgtgc	15	8	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:35517248C>T	uc001uvb.2	+	2	497	c.291C>T	c.(289-291)AAC>AAT	p.N97N		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	97						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CGGTGCTCAACCTGGTAAGGA	0.587													T	35517248	C	T	35517248	2	4	250	1	0	0	0	0	0	0	0	1	10187	506	18	4		4	NBEA	13	35517248	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2603011	35517248	79652630	974	124902											
DCLK1	9201	broad.mit.edu	37	chr13	36397008	36397008	+	Frame_Shift_Del	DEL	C	C	-													taatggcatcaaaaaggtctCccccctgagaagagaacaga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:36397007_36397007TC>T	uc001uvf.3	-	10	1696	c.1413_1413GA>A	c.(1411-1413)ggafs	p.G471fs	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Frame_Shift_Del_p.G164fs|DCLK1_uc010teh.2_Frame_Shift_Del_p.G164fs|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	471	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)		CAAAAAGGTCTCCCCCCTGAG	0.522													-	36397008	C	-	36397008	7	5	250	1	0	1	0	1	0	0	0	0	4291	855	30	0	809	0	DCLK1	13	36397008	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	879760	36397008	78772870	975	124903											
SMAD9	4093	broad.mit.edu	37	chr13	37453576	37453576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatggggcaggcccttgCggtgggacacctgcagccgc	15	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:37453576C>T	uc001uvw.2	-	2	594	c.251G>A	c.(250-252)CGC>CAC	p.R84H	SMAD9_uc001uvx.2_Missense_Mutation_p.R84H|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	84	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				0		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)		CAGGCCCTTGCGGTGGGACAC	0.657													T	37453576	C	T	37453576	3	4	250	1	0	0	0	0	1	0	0	0	14764	768	27	1	1176	1	SMAD9	13	37453576	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1056568	37453576	77716302	976	124904											
POSTN	10631	broad.mit.edu	37	chr13	38145526	38145526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggatcacttcagttAttgtttcaccttctttaatc	4	11	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:38145526A>G	uc001uwo.3	-	18	2277	c.2159T>C	c.(2158-2160)ATA>ACA	p.I720T	POSTN_uc010tet.1_Missense_Mutation_p.I221T|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Missense_Mutation_p.I693T|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.I693T|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	720					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		CACTTCAGTTATTGTTTCACC	0.378													G	38145526	A	G	38145526	3	3	250	1	0	0	0	0	1	0	0	0	12259	449	16	3	375	3	POSTN	13	38145526	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	691950	38145526	77024352	977	124905											
MRPS31	10240	broad.mit.edu	37	chr13	41328182	41328182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcttctttagtaactgCcatcatgtcaaaaatattaa	6	7	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:41328182C>T	uc001uxm.3	-	5	862	c.787G>A	c.(787-789)GCA>ACA	p.A263T		NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	263						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TTAGTAACTGCCATCATGTCA	0.313													T	41328182	C	T	41328182	3	4	250	1	0	0	0	0	1	0	0	0	9841	739	26	2	412	2	MRPS31	13	41328182	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3182656	41328182	73841696	978	124906											
AKAP11	11215	broad.mit.edu	37	chr13	42874607	42874607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagaaaggagtctcttcAtgtaccaatgctttgtacca	7	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:42874607A>G	uc001uys.1	+	8	1900	c.1725A>G	c.(1723-1725)TCA>TCG	p.S575S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	575					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		GAGTCTCTTCATGTACCAATG	0.368													G	42874607	A	G	42874607	2	3	250	1	0	0	0	0	0	0	0	1	447	204	8	3		3	AKAP11	13	42874607	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1546425	42874607	72295271	979	124907											
PCDH20	64881	broad.mit.edu	37	chr13	61987886	61987886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggctgaaggagagagGggggttccactcagcaccgg	18	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:61987886G>A	uc001vid.3	-	2	710	c.346C>T	c.(346-348)CCT>TCT	p.P116S	PCDH20_uc010thj.1_Missense_Mutation_p.P116S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	89	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGGAGAGAGGGGGGTTCCAC	0.682													A	61987886	G	A	61987886	3	1	250	1	0	0	0	0	1	0	0	0	11515	1232	43	4	2513	4	PCDH20	13	61987886	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	19113279	61987886	53181992	980	124908											
TBC1D4	9882	broad.mit.edu	37	chr13	75866265	75866265	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataattttttccatttcagaGgtattcatatcaggtagcgt	7	6	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:75866265G>T	uc001vjl.1	-	19	3806	c.3459C>A	c.(3457-3459)ACC>ACA	p.T1153T	TBC1D4_uc010tht.1_Silent_p.T363T|TBC1D4_uc010thu.1_Silent_p.T310T|TBC1D4_uc010aer.2_Silent_p.T1145T|TBC1D4_uc010aes.2_Silent_p.T1090T	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1153						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCATTTCAGAGGTATTCATAT	0.318													T	75866265	G	T	75866265	2	4	250	1	0	0	0	0	0	0	0	1	15619	987	35	5		5	TBC1D4	13	75866265	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	13878379	75866265	39303613	981	124909											
TBC1D4	9882	broad.mit.edu	37	chr13	75873672	75873672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagctgtcctggcccaaGctgtactgaaaagtaagggt	12	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:75873672G>A	uc001vjl.1	-	17	3297	c.2950C>T	c.(2950-2952)CTT>TTT	p.L984F	TBC1D4_uc010tht.1_Missense_Mutation_p.L194F|TBC1D4_uc010thu.1_Missense_Mutation_p.L141F|TBC1D4_uc010aer.2_Missense_Mutation_p.L976F|TBC1D4_uc010aes.2_Missense_Mutation_p.L921F	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	984	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCTGGCCCAAGCTGTACTGAA	0.458													A	75873672	G	A	75873672	3	1	250	1	0	0	0	0	1	0	0	0	15619	971	34	2	966	2	TBC1D4	13	75873672	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7407	75873672	39296206	982	124910											
SLAIN1	122060	broad.mit.edu	37	chr13	78293734	78293734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctttgcagtggtgtAgacatgtcctagataaccca	9	10	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:78293734A>G	uc010thy.1	+	2	245	c.202A>G	c.(202-204)AGA>GGA	p.R68G	SLAIN1_uc001vkk.1_5'UTR	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	210										ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GCAGTGGTGTAGACATGTCCT	0.418													G	78293734	A	G	78293734	3	3	250	1	0	0	0	0	1	0	0	0	14365	435	15	3		3	SLAIN1	13	78293734	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2420062	78293734	36876144	983	124911											
POU4F1	5457	broad.mit.edu	37	chr13	79175721	79175721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagcgcttctcgggcgcGgcgatggaagtccgcttgcg	18	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:79175721G>A	uc001vkv.2	-	2	1323	c.1089C>T	c.(1087-1089)GCC>GCT	p.A363A	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	363	Homeobox.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGGGCGCGGCGATGGAAG	0.652													A	79175721	G	A	79175721	2	1	250	1	0	0	0	0	0	0	0	1	12278	1103	39	1		1	POU4F1	13	79175721	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	881987	79175721	35994157	984	124912											
SLITRK5	26050	broad.mit.edu	37	chr13	88328903	88328903	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtatctgacagagaactaCatcgctgtcgtgcgcaggac	11	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:88328903C>A	uc001vln.2	+	2	1479	c.1260C>A	c.(1258-1260)TAC>TAA	p.Y420*	SLITRK5_uc010tic.1_Nonsense_Mutation_p.Y179*	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	420	LRR 7.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGAGAACTACATCGCTGTCG	0.567													A	88328903	C	A	88328903	4	1	250	1	0	0	0	0	0	1	0	0	14746	489	17	5	1262	5	SLITRK5	13	88328903	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9153182	88328903	26840975	985	124913											
SLITRK5	26050	broad.mit.edu	37	chr13	88329623	88329623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcggaggggcgtcgtcGgtgcccttgtctgtgttaat	17	9	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:88329623G>A	uc001vln.2	+	2	2199	c.1980G>A	c.(1978-1980)TCG>TCA	p.S660S	SLITRK5_uc010tic.1_Silent_p.S419S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	660	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGCGTCGTCGGTGCCCTTGT	0.642													A	88329623	G	A	88329623	2	1	250	1	0	0	0	0	0	0	0	1	14746	1103	39	1		1	SLITRK5	13	88329623	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	720	88329623	26840255	986	124914											
CLDN10	9071	broad.mit.edu	37	chr13	96086249	96086249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgaactgcgcaggtaaCgcgttgggttctttccattg	13	8	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:96086249C>T	uc001vmg.2	+	1	397	c.162C>T	c.(160-162)AAC>AAT	p.N54N	CLDN10_uc010tii.1_Intron	NM_182848	NP_878268	P78369	CLD10_HUMAN	claudin 10 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCGCAGGTAACGCGTTGGGTT	0.488													T	96086249	C	T	96086249	2	4	250	1	0	0	0	0	0	0	0	1	3472	535	19	1		1	CLDN10	13	96086249	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7756626	96086249	19083629	987	124915											
DOCK9	23348	broad.mit.edu	37	chr13	99459997	99459997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagtctctgagaaatttccGacagcggtgtgagtttgggt	15	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:99459997G>A	uc001vnt.2	-	50	5532	c.5477C>T	c.(5476-5478)TCG>TTG	p.S1826L	DOCK9_uc001vnw.2_Missense_Mutation_p.S1825L|DOCK9_uc001vnq.2_Missense_Mutation_p.S373L|DOCK9_uc001vnr.2_Missense_Mutation_p.S455L|DOCK9_uc010tin.1_Missense_Mutation_p.S444L|DOCK9_uc001vns.2_Missense_Mutation_p.S361L|DOCK9_uc010tio.1_Missense_Mutation_p.S481L|DOCK9_uc010tip.1_Missense_Mutation_p.S522L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1826	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAATTTCCGACAGCGGTGT	0.393													A	99459997	G	A	99459997	3	1	250	1	0	0	0	0	1	0	0	0	4694	1059	37	1	760	1	DOCK9	13	99459997	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3373748	99459997	15709881	988	124916											
NALCN	259232	broad.mit.edu	37	chr13	101714336	101714336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagctctgatgcgcttcAggcacttcttgagccacatg	9	13	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:101714336A>G	uc001vox.1	-	41	4928	c.4739T>C	c.(4738-4740)CTG>CCG	p.L1580P		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1580	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATGCGCTTCAGGCACTTCTT	0.483													G	101714336	A	G	101714336	3	3	250	1	0	0	0	0	1	0	0	0	10148	188	7	3	493	3	NALCN	13	101714336	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2254339	101714336	13455542	989	124917											
COL4A2	1284	broad.mit.edu	37	chr13	111164351	111164351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtctagaggacttccGcgccacaccattcatcgaat	8	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:111164351G>T	uc001vqx.2	+	48	5241	c.4952G>T	c.(4951-4953)CGC>CTC	p.R1651L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1651	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			GAGGACTTCCGCGCCACACCA	0.617													T	111164351	G	T	111164351	3	4	250	1	0	0	0	0	1	0	0	0	3690	1087	38	5	5138	5	COL4A2	13	111164351	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	9450015	111164351	4005527	990	124918											
MCF2L	23263	broad.mit.edu	37	chr13	113742666	113742666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcctgagattaaagccgCgtgggtgaatgaaattcgga	12	7	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:113742666C>T	uc001vsu.2	+	24	2907	c.2885C>T	c.(2884-2886)GCG>GTG	p.A962V	MCF2L_uc001vsq.2_Missense_Mutation_p.A962V|MCF2L_uc010tjr.1_Missense_Mutation_p.A905V|MCF2L_uc001vsr.2_Missense_Mutation_p.A909V|MCF2L_uc001vss.3_Missense_Mutation_p.A903V|MCF2L_uc010tjs.1_Missense_Mutation_p.A903V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	935	PH.				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			ovary(1)|kidney(1)	2	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)				ATTAAAGCCGCGTGGGTGAAT	0.552													T	113742666	C	T	113742666	3	4	250	1	0	0	0	0	1	0	0	0	9379	768	27	1	3074	1	MCF2L	13	113742666	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2578315	113742666	1427212	991	124919											
PCID2	55795	broad.mit.edu	37	chr13	113838692	113838692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtcaaacatagccttgCgtccaacgtagtatttgtat	8	10	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:113838692C>T	uc010tju.1	-	9	734	c.653G>A	c.(652-654)CGC>CAC	p.R218H	PCID2_uc001vtb.2_Missense_Mutation_p.R51H|PCID2_uc010tjv.1_Missense_Mutation_p.R218H|PCID2_uc010tjw.1_Missense_Mutation_p.R218H|PCID2_uc001vte.2_Missense_Mutation_p.R111H|PCID2_uc001vtd.2_Missense_Mutation_p.R111H|PCID2_uc001vtf.2_Missense_Mutation_p.R111H	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	218					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATAGCCTTGCGTCCAACGTA	0.358													T	113838692	C	T	113838692	3	4	250	1	0	0	0	0	1	0	0	0	11579	768	27	1	570	1	PCID2	13	113838692	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	96026	113838692	1331186	992	124920											
TFDP1	7027	broad.mit.edu	37	chr13	114288217	114288218	+	Frame_Shift_Ins	INS	-	-	A													tccccaggcttatgaccagaINSaaaacataagacggcgcgtc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:114288216_114288217G>GA	uc001vtw.3	+	6	698_699	c.486_487G>GA	c.(484-489)cagaaafs	p.Q162fs	TFDP1_uc010tkd.2_Frame_Shift_Ins_p.Q67fs|TFDP1_uc010tke.2_Frame_Shift_Ins_p.Q67fs|TFDP1_uc001vty.4_Frame_Shift_Ins_p.Q162fs|TFDP1_uc010agx.3_Frame_Shift_Ins_p.Q162fs	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	162					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTTATGACCAGAAAAACATAAG	0.5										TSP Lung(29;0.18)			A	114288218	-	A	114288217	7	5	250	1	0	1	1	0	0	0	0	0	15794	247	9	0	509	0	TFDP1	13	114288217	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	449525	114288217	881661	993	124921											
GAS6	2621	broad.mit.edu	37	chr13	114538550	114538550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcaggagtaggagccGggcaggttcttgcagcgcgc	18	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr13:114538550G>A	uc001vud.2	-	7	801	c.648C>T	c.(646-648)CCC>CCT	p.P216P	GAS6_uc001vug.2_5'Flank|GAS6_uc001vuf.2_5'UTR	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	216	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)	4	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)				AGTAGGAGCCGGGCAGGTTCT	0.627													A	114538550	G	A	114538550	2	1	250	1	0	0	0	0	0	0	0	1	6249	1103	39	1		1	GAS6	13	114538550	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	250333	114538550	631328	994	124922											
TEP1	7011	broad.mit.edu	37	chr14	20841475	20841475	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtacagaaccatcctcagaGgcggtcagcatgaggcctga	12	12	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:20841475G>T	uc001vxe.2	-	47	6808	c.6768C>A	c.(6766-6768)GCC>GCA	p.A2256A	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Silent_p.A1599A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.A2148A|TEP1_uc010tlh.1_Silent_p.A594A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2256	WD 15.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		CATCCTCAGAGGCGGTCAGCA	0.567													T	20841475	G	T	20841475	2	4	250	1	0	0	0	0	0	0	0	1	15756	987	35	5		5	TEP1	14	20841475	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08		20841475	86508065	995	124923											
FLJ10357	55701	broad.mit.edu	37	chr14	21543656	21543656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggattcctcatcctgaCgggtcagtgggcatcagtgg	13	10	4	1	rs143657914		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:21543656C>T	uc001vzp.2	+	4	1645	c.1616C>T	c.(1615-1617)ACG>ATG	p.T539M	FLJ10357_uc001vzn.1_Missense_Mutation_p.T539M|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Translation_Start_Site	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	539					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CTCATCCTGACGGGTCAGTGG	0.562													T	21543656	C	T	21543656	3	4	250	1	0	0	0	0	1	0	0	0	5926	536	19	1	1630	1	FLJ10357	14	21543656	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	702181	21543656	85805884	996	124924											
RPGRIP1	57096	broad.mit.edu	37	chr14	21769213	21769213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctctcggagaccgcaaggCgcgggcagaaggcgggatgg	19	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:21769213C>T	uc001wag.2	+	3	307	c.307C>T	c.(307-309)CGC>TGC	p.R103C		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	103					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	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)		GACCGCAAGGCGCGGGCAGAA	0.706													T	21769213	C	T	21769213	3	4	250	1	0	0	0	0	1	0	0	0	13549	768	27	1	317	1	RPGRIP1	14	21769213	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	225557	21769213	85580327	997	124925											
SALL2	6297	broad.mit.edu	37	chr14	21993446	21993446	+	Frame_Shift_Del	DEL	C	C	-													tgggactggccaagatcaggCccccgcctcccccagccgct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:21993445_21993445GC>G	uc001wbe.3	-	1	699	c.417_417GC>C	c.(415-417)ggcfs	p.G139fs	SALL2_uc010tly.2_Frame_Shift_Del_p.G137fs|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	139	Poly-Gly.						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)		CCAAGATCAGGCCCCCGCCTC	0.677													-	21993446	C	-	21993446	7	5	250	1	0	1	0	1	0	0	0	0	13811	739	26	0	2611	0	SALL2	14	21993446	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	224233	21993446	85356094	998	124926											
MYH6	4624	broad.mit.edu	37	chr14	23869597	23869597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaactgctgcagcttctcGttggtgaagttgatgcagag	13	7	1	4	rs145447555	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:23869597G>A	uc001wjv.2	-	14	1516	c.1449C>T	c.(1447-1449)AAC>AAT	p.N483N	MYH6_uc010akp.1_Silent_p.N483N	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	483	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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCAGCTTCTCGTTGGTGAAGT	0.537													A	23869597	G	A	23869597	2	1	250	1	0	0	0	0	0	0	0	1	10038	1136	40	1		1	MYH6	14	23869597	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1876151	23869597	83479943	999	124927											
PSME1	5720	broad.mit.edu	37	chr14	24607279	24607279	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccacctggttgcagctgCagatacctcggattgaggat	11	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:24607279C>T	uc001wmg.2	+	7	506	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	PSME1_uc001wmh.2_Nonsense_Mutation_p.Q138*	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	138					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				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		GTTGCAGCTGCAGATACCTCG	0.532													T	24607279	C	T	24607279	4	4	250	1	0	0	0	0	0	1	0	0	12706	711	25	2	438	2	PSME1	14	24607279	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	737682	24607279	82742261	1000	124928											
RNF31	55072	broad.mit.edu	37	chr14	24626574	24626574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacgacccagaataccagGcccagggcctagcaatgtat	10	12	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:24626574G>A	uc001wmn.1	+	15	2818	c.2569G>A	c.(2569-2571)GCC>ACC	p.A857T	RNF31_uc001wml.1_Missense_Mutation_p.A706T|RNF31_uc010alg.1_Missense_Mutation_p.A616T|RNF31_uc001wmo.1_Missense_Mutation_p.A324T|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.A41T	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	857	IBR-type 2.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AGAATACCAGGCCCAGGGCCT	0.562													A	24626574	G	A	24626574	3	1	250	1	0	0	0	0	1	0	0	0	13487	1203	42	2	2627	2	RNF31	14	24626574	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	19295	24626574	82722966	1001	124929											
AKAP6	9472	broad.mit.edu	37	chr14	33291716	33291716	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcccttttatctcatagttCatctattgagtccctttctc	3	13	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:33291716C>A	uc001wrq.2	+	13	4867	c.4697C>A	c.(4696-4698)TCA>TAA	p.S1566*		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1566	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		TCTCATAGTTCATCTATTGAG	0.408													A	33291716	C	A	33291716	4	1	250	1	0	0	0	0	0	1	0	0	455	838	29	5	4743	5	AKAP6	14	33291716	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	8665142	33291716	74057824	1002	124930											
KIAA0391	9692	broad.mit.edu	37	chr14	35742707	35742707	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcacataccatatgatgaaGacttggtagaaagatgttcc	10	7	0	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:35742707G>A	uc001wsy.1	+	8	2047	c.1687G>A	c.(1687-1689)GAC>AAC	p.D563N	KIAA0391_uc010tps.1_Missense_Mutation_p.D468N|KIAA0391_uc001wsz.1_Missense_Mutation_p.D547N|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.D547N|KIAA0391_uc001wtc.1_Missense_Mutation_p.D191N	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	563					tRNA processing	mitochondrion					0	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)		ATATGATGAAGACTTGGTAGA	0.403													A	35742707	G	A	35742707	3	1	250	1	0	0	0	0	1	0	0	0	8172	942	33	4	1713	4	KIAA0391	14	35742707	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2450991	35742707	71606833	1003	124931											
MGAT2	4247	broad.mit.edu	37	chr14	50088553	50088553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccctaacgagtttccAggtagtgaccctagagattg	10	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:50088553A>G	uc001wwr.2	+	1	1065	c.567A>G	c.(565-567)CCA>CCG	p.P189P	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	189	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACGAGTTTCCAGGTAGTGACC	0.507													G	50088553	A	G	50088553	2	3	250	1	0	0	0	0	0	0	0	1	9543	175	7	3		3	MGAT2	14	50088553	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	14345846	50088553	57260987	1004	124932											
NIN	51199	broad.mit.edu	37	chr14	51226994	51226994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctaaggtgtgcgtttcGttctcatgcctttgcttcat	8	9	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:51226994G>A	uc001wym.2	-	17	2171	c.1980C>T	c.(1978-1980)AAC>AAT	p.N660N	NIN_uc001wyi.2_Silent_p.N660N|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.N660N|NIN_uc010tqp.1_Silent_p.N666N|NIN_uc001wyo.2_Silent_p.N660N	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	660	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGCGTTTCGTTCTCATGCC	0.478			T	PDGFRB	MPD								A	51226994	G	A	51226994	2	1	250	1	0	0	0	0	0	0	0	1	10417	1136	40	1		1	NIN	14	51226994	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1138441	51226994	56122546	1005	124933											
PYGL	5836	broad.mit.edu	37	chr14	51411117	51411117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtccgtcaggggcttcGccatggctggggcggcgggc	19	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:51411117G>A	uc001wyu.2	-	1	132	c.5C>T	c.(4-6)GCG>GTG	p.A2V	PYGL_uc010tqq.1_Missense_Mutation_p.A2V|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.A2V	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	2				AK -> GE (in Ref. 1; AAA52577 and 3; AAC18079).	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			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CAGGGGCTTCGCCATGGCTGG	0.602													A	51411117	G	A	51411117	3	1	250	1	0	0	0	0	1	0	0	0	12861	1087	38	1	2618	1	PYGL	14	51411117	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	184123	51411117	55938423	1006	124934											
NID2	22795	broad.mit.edu	37	chr14	52508901	52508901	+	Frame_Shift_Del	DEL	G	G	-													caggcctccaattggtgtgaGggggaggagggcctgggctg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:52508900_52508900AG>A	uc001wzo.3	-	6	1982	c.1748_1748CT>T	c.(1747-1749)ctcfs	p.L583fs	NID2_uc010tqs.2_Frame_Shift_Del_p.L583fs|NID2_uc010tqt.1_Frame_Shift_Del_p.L583fs|NID2_uc001wzp.3_Frame_Shift_Del_p.L583fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	583	Nidogen G2 beta-barrel.					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)					AATTGGTGTGAGGGGGAGGAG	0.582													-	52508901	G	-	52508901	7	5	250	1	0	1	0	1	0	0	0	0	10415	1000	35	0	2444	0	NID2	14	52508901	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1097784	52508901	54840639	1007	124935											
SAMD4A	23034	broad.mit.edu	37	chr14	55203892	55203892	+	Frame_Shift_Del	DEL	C	C	-													gtgcctcccatccgatcatgCccccctgtctccacaaagca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:55203891_55203891GC>G	uc001xbb.3	+	2	1170	c.862_862GC>G	c.(862-864)gccfs	p.A288fs	SAMD4A_uc001xbc.3_Intron	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	289					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						ATCCGATCATGCCCCCCTGTC	0.527													-	55203892	C	-	55203892	7	5	250	1	0	1	0	1	0	0	0	0	13821	739	26	0	873	0	SAMD4A	14	55203892	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	2694991	55203892	52145648	1008	124936											
KIAA0586	9786	broad.mit.edu	37	chr14	58954677	58954677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacacctcctccagcggCggcagtttttaccccaactt	6	16	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:58954677C>T	uc001xdv.3	+	22	3422	c.3149C>T	c.(3148-3150)GCG>GTG	p.A1050V	KIAA0586_uc010trr.1_Missense_Mutation_p.A1167V|KIAA0586_uc001xdt.3_Missense_Mutation_p.A1082V|KIAA0586_uc001xdu.3_Missense_Mutation_p.A1111V|KIAA0586_uc010trs.1_Missense_Mutation_p.A1041V|KIAA0586_uc010trt.1_Missense_Mutation_p.A986V|KIAA0586_uc010tru.1_Missense_Mutation_p.A986V	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1050										ovary(1)	1						CCTCCAGCGGCGGCAGTTTTT	0.448													T	58954677	C	T	58954677	3	4	250	1	0	0	0	0	1	0	0	0	8186	768	27	1	3235	1	KIAA0586	14	58954677	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3750785	58954677	48394863	1009	124937											
C14orf149	112849	broad.mit.edu	37	chr14	59942860	59942860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggttccttggtataagCatcttttccatctgttaata	8	7	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:59942860C>T	uc001xee.1	-	3	790	c.751G>A	c.(751-753)GCT>ACT	p.A251T		NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	251							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	TTGGTATAAGCATCTTTTCCA	0.338													T	59942860	C	T	59942860	3	4	250	1	0	0	0	0	1	0	0	0	1752	710	25	2	325	2	C14orf149	14	59942860	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	988183	59942860	47406680	1010	124938											
JKAMP	51528	broad.mit.edu	37	chr14	59961932	59961932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacactgtactcatgaagccGtctacccactgtaagtgttt	7	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:59961932G>A	uc001xei.3	+	4	992	c.490G>A	c.(490-492)GTC>ATC	p.V164I	JKAMP_uc001xef.3_Missense_Mutation_p.V150I|JKAMP_uc001xeh.3_Missense_Mutation_p.V144I|JKAMP_uc001xeg.3_Missense_Mutation_p.V158I|JKAMP_uc010try.1_Missense_Mutation_p.V87I|JKAMP_uc001xej.3_Missense_Mutation_p.V87I	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	165	Helical; (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						TCATGAAGCCGTCTACCCACT	0.318													A	59961932	G	A	59961932	3	1	250	1	0	0	0	0	1	0	0	0	7949	1145	40	1	462	1	JKAMP	14	59961932	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	19072	59961932	47387608	1011	124939											
SYT16	83851	broad.mit.edu	37	chr14	62547763	62547763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtaagaaacacagggGcaggacgaacatacagagag	14	8	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:62547763G>A	uc001xfu.1	+	4	1402	c.1205G>A	c.(1204-1206)GGC>GAC	p.G402D	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	402	C2 1.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAACACAGGGGCAGGACGAAC	0.577													A	62547763	G	A	62547763	3	1	250	1	0	0	0	0	1	0	0	0	15469	1203	42	2	1219	2	SYT16	14	62547763	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2585831	62547763	44801777	1012	124940											
SYNE2	23224	broad.mit.edu	37	chr14	64467370	64467370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgacataaaaaagcctTttgtaattaaggaaagagac	8	4	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:64467370T>G	uc001xgm.2	+	28	3801	c.3571T>G	c.(3571-3573)TTT>GTT	p.F1191V	SYNE2_uc001xgl.2_Missense_Mutation_p.F1191V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1191	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAAAGCCTTTTGTAATTAA	0.313													G	64467370	T	G	64467370	3	3	250	1	0	0	0	0	1	0	0	0	15443	1841	64	5	3677	5	SYNE2	14	64467370	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1919607	64467370	42882170	1013	124941											
SPTB	6710	broad.mit.edu	37	chr14	65251050	65251050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatttattgtgaaggtttCgtgcttcatcataggagaca	10	7	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:65251050C>T	uc001xht.2	-	18	3971	c.3917G>A	c.(3916-3918)CGA>CAA	p.R1306Q	SPTB_uc001xhr.2_Missense_Mutation_p.R1306Q|SPTB_uc001xhs.2_Missense_Mutation_p.R1306Q|SPTB_uc001xhu.2_Missense_Mutation_p.R1306Q|SPTB_uc010aqi.2_5'Flank	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1306	Spectrin 10.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		GTGAAGGTTTCGTGCTTCATC	0.478													T	65251050	C	T	65251050	3	4	250	1	0	0	0	0	1	0	0	0	15117	884	31	1	3210	1	SPTB	14	65251050	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	783680	65251050	42098490	1014	124942											
SPTB	6710	broad.mit.edu	37	chr14	65253729	65253729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgatacctgccaggtccCgccccaggtcttttgtggac	11	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:65253729C>T	uc001xht.2	-	15	3008	c.2954G>A	c.(2953-2955)CGG>CAG	p.R985Q	SPTB_uc001xhr.2_Missense_Mutation_p.R985Q|SPTB_uc001xhs.2_Missense_Mutation_p.R985Q|SPTB_uc001xhu.2_Missense_Mutation_p.R985Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	985	Spectrin 7.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		TGCCAGGTCCCGCCCCAGGTC	0.602													T	65253729	C	T	65253729	3	4	250	1	0	0	0	0	1	0	0	0	15117	652	23	1	4185	1	SPTB	14	65253729	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2679	65253729	42095811	1015	124943											
FNTB	2342	broad.mit.edu	37	chr14	65392757	65392757	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaattgtcatcatgtaataGccagacatgagtatacattc	7	7	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:65392757G>C	uc010tsl.1	+	3	279	c.205G>C	c.(205-207)GCC>CCC	p.A69P	CHURC1_uc010tsj.1_Missense_Mutation_p.A69P|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsm.1_Intron|CHURC1_uc001xhv.1_Missense_Mutation_p.A70P|CHURC1_uc001xhw.1_Missense_Mutation_p.A69P	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	Error:Variant_position_missing_in_P49356_after_alignment					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TCATGTAATAGCCAGACATGA	0.289													C	65392757	G	C	65392757	3	2	250	1	0	0	0	0	1	0	0	0	5978	971	34	5		5	FNTB	14	65392757	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	139028	65392757	41956783	1016	124944											
SLC8A3	6547	broad.mit.edu	37	chr14	70517819	70517819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgatcagtttgtccacCgtagtctgttaagaagagaa	9	7	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:70517819C>T	uc001xly.2	-	6	2791	c.2037G>A	c.(2035-2037)ACG>ACA	p.T679T	SLC8A3_uc001xlu.2_Silent_p.T36T|SLC8A3_uc001xlv.2_Silent_p.T50T|SLC8A3_uc001xlw.2_Silent_p.T676T|SLC8A3_uc001xlx.2_Silent_p.T677T|SLC8A3_uc001xlz.2_Silent_p.T673T|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.T36T	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	679	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTGTCCACCGTAGTCTGTT	0.488													T	70517819	C	T	70517819	2	4	250	1	0	0	0	0	0	0	0	1	14708	639	23	1		1	SLC8A3	14	70517819	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5125062	70517819	36831721	1017	124945											
PCNX	22990	broad.mit.edu	37	chr14	71479728	71479728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacagattcgattgaaTagactattgaccattgatac	6	10	0	5			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:71479728T>C	uc001xmo.2	+	11	3251	c.2805T>C	c.(2803-2805)AAT>AAC	p.N935N	PCNX_uc010are.1_Silent_p.N824N|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	935						integral to membrane				ovary(1)	1			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)		TTCGATTGAATAGACTATTGA	0.348													C	71479728	T	C	71479728	2	2	250	1	0	0	0	0	0	0	0	1	11591	1403	49	3		3	PCNX	14	71479728	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	961909	71479728	35869812	1018	124946											
HEATR4	399671	broad.mit.edu	37	chr14	73945320	73945320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttcagcttagagatgAgcacctttctttccagaggg	11	8	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:73945320A>G	uc010tua.1	-	18	3341	c.2931T>C	c.(2929-2931)GCT>GCC	p.A977A	uc001xoi.1_RNA	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTTAGAGATGAGCACCTTTCT	0.418													G	73945320	A	G	73945320	2	3	250	1	0	0	0	0	0	0	0	1	7030	291	11	3		3	HEATR4	14	73945320	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2465592	73945320	33404220	1019	124947											
PNMA1	9240	broad.mit.edu	37	chr14	74179982	74179982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgaaacccaaggacacGggcaacatcttgcacggtcc	10	13	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:74179982G>A	uc001xor.1	-	1	1147	c.361C>T	c.(361-363)CGT>TGT	p.R121C		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	121					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccaaggacacgggcaacatct	0													A	74179982	G	A	74179982	3	1	250	1	0	0	0	0	1	0	0	0	12153	1116	39	1	704	1	PNMA1	14	74179982	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	234662	74179982	33169558	1020	124948											
COQ6	51004	broad.mit.edu	37	chr14	74428588	74428588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcttgcaggccacaaaTgcagtgtctccactcaaagt	11	11	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:74428588T>C	uc001xph.2	+	11	1439	c.1359T>C	c.(1357-1359)AAT>AAC	p.N453N	ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Silent_p.N378N|COQ6_uc001xpf.2_Silent_p.N378N|COQ6_uc010tuk.1_Silent_p.N428N|COQ6_uc001xpg.2_Intron	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 homolog isoform a	453					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				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AGGCCACAAATGCAGTGTCTC	0.398													C	74428588	T	C	74428588	2	2	250	1	0	0	0	0	0	0	0	1	3749	1461	51	3		3	COQ6	14	74428588	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	248606	74428588	32920952	1021	124949											
LTBP2	4053	broad.mit.edu	37	chr14	75002696	75002696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggccattctcaatcacCggggaggctgaagagtggag	15	9	2	2	rs144293300	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:75002696C>T	uc001xqa.2	-	9	2184	c.1797G>A	c.(1795-1797)CCG>CCA	p.P599P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	599	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCTCAATCACCGGGGAGGCTG	0.622													T	75002696	C	T	75002696	2	4	250	1	0	0	0	0	0	0	0	1	9074	639	23	1		1	LTBP2	14	75002696	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	574108	75002696	32346844	1022	124950											
ESRRB	2103	broad.mit.edu	37	chr14	76905756	76905756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatcaagactgagccGtccagcccgtcctcgggcat	9	16	2	2	rs1064434		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:76905756G>A	uc001xsq.1	+	2	127	c.60G>A	c.(58-60)CCG>CCA	p.P20P	ESRRB_uc001xsr.2_Silent_p.P20P|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGACTGAGCCGTCCAGCCCGT	0.672													A	76905756	G	A	76905756	2	1	250	1	0	0	0	0	0	0	0	1	5261	1132	40	1		1	ESRRB	14	76905756	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1903060	76905756	30443784	1023	124951											
C14orf174	161394	broad.mit.edu	37	chr14	77846757	77846757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaaacttcatcagtggccGaaaactcattcacgtcaact	5	13	5	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:77846757G>A	uc001xtq.1	+	2	1721	c.1721G>A	c.(1720-1722)CGA>CAA	p.R574Q		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	574	SAM.										0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ATCAGTGGCCGAAAACTCATT	0.363													A	77846757	G	A	77846757	3	1	250	1	0	0	0	0	1	0	0	0	1759	1058	37	1	1727	1	C14orf174	14	77846757	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	941001	77846757	29502783	1024	124952											
NRXN3	9369	broad.mit.edu	37	chr14	80164095	80164095	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaaagtactgaacatgGcggctgagaacaaccccaat	10	9	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:80164095G>C	uc001xun.2	+	15	3111	c.2620G>C	c.(2620-2622)GCG>CCG	p.A874P	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A242P|NRXN3_uc010asw.2_Missense_Mutation_p.A272P|NRXN3_uc001xur.3_Missense_Mutation_p.A242P	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1247	Extracellular (Potential).|Laminin G-like 6.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACTGAACATGGCGGCTGAGAA	0.483													C	80164095	G	C	80164095	3	2	250	1	0	0	0	0	1	0	0	0	10667	1203	42	5	3015	5	NRXN3	14	80164095	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2317338	80164095	27185445	1025	124953											
TSHR	7253	broad.mit.edu	37	chr14	81609513	81609513	+	Frame_Shift_Del	DEL	A	A	-													ttggttttggccaggagctcAaaaacccccaggaagagact							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:81609512_81609512CA>C	uc001xvd.1	+	9	1266	c.1110_1110CA>C	c.(1108-1110)ctcfs	p.L370fs		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	370					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)	GCCAGGAGCTCAAAAACCCCC	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						-	81609513	A	-	81609513	7	5	250	1	0	1	0	1	0	0	0	0	16619	131	5	0	1286	0	TSHR	14	81609513	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	1445418	81609513	25740027	1026	124954											
STON2	85439	broad.mit.edu	37	chr14	81837459	81837459	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggtccagctgctctcAgaagtcagagggcatctccc	13	12	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:81837459A>G	uc010tvu.1	-	3	645	c.444T>C	c.(442-444)TCT>TCC	p.S148S	STON2_uc001xvk.1_Silent_p.S148S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	148					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCTGCTCTCAGAAGTCAGAG	0.532													G	81837459	A	G	81837459	2	3	250	1	0	0	0	0	0	0	0	1	15317	175	7	3		3	STON2	14	81837459	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	227946	81837459	25512081	1027	124955											
PTPN21	11099	broad.mit.edu	37	chr14	88945359	88945359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctccgggctcggtagcGgcctgacgtggtgaggtcgg	18	12	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:88945359G>A	uc001xwv.3	-	13	2747	c.2416C>T	c.(2416-2418)CGC>TGC	p.R806C	PTPN21_uc010twc.1_Missense_Mutation_p.R602C	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	806						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GCTCGGTAGCGGCCTGACGTG	0.657													A	88945359	G	A	88945359	3	1	250	1	0	0	0	0	1	0	0	0	12786	1116	39	1	1136	1	PTPN21	14	88945359	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7107900	88945359	18404181	1028	124956											
PTPN21	11099	broad.mit.edu	37	chr14	88946027	88946027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgatgtaaaggtggCgggacaggtctggcgtgctg	18	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:88946027C>T	uc001xwv.3	-	13	2079	c.1748G>A	c.(1747-1749)CGC>CAC	p.R583H	PTPN21_uc010twc.1_Missense_Mutation_p.R379H	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	583						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GTAAAGGTGGCGGGACAGGTC	0.677													T	88946027	C	T	88946027	3	4	250	1	0	0	0	0	1	0	0	0	12786	768	27	1	1804	1	PTPN21	14	88946027	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	668	88946027	18403513	1029	124957											
RIN3	79890	broad.mit.edu	37	chr14	93118772	93118773	+	Frame_Shift_Ins	INS	-	-	C													caaacaacccccagtcccgcINScccccaggaaaaaacggatc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:93118771_93118772G>GC	uc001yap.3	+	5	1529_1530	c.1377_1378G>GC	c.(1375-1380)ccgcccfs	p.P459fs	RIN3_uc010auk.3_Frame_Shift_Ins_p.P121fs|RIN3_uc001yaq.3_Frame_Shift_Ins_p.P384fs|RIN3_uc001yar.1_Frame_Shift_Ins_p.P121fs|RIN3_uc001yas.1_Frame_Shift_Ins_p.P121fs	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	459	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCCAGTCCCGCCCCCCAGGAA	0.624													C	93118773	-	C	93118772	7	5	250	1	0	1	1	0	0	0	0	0	13373	739	26	0	1400	0	RIN3	14	93118772	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	4172745	93118772	14230768	1030	124958											
BTBD7	55727	broad.mit.edu	37	chr14	93760654	93760654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtaatcaaagagtccacGcatatctacatcaagggaat	7	9	3	1	rs143569452		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:93760654G>A	uc001ybo.2	-	3	1038	c.712C>T	c.(712-714)CGT>TGT	p.R238C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.R153C|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.R153C|BTBD7_uc001ybr.2_Missense_Mutation_p.R238C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	238										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAGAGTCCACGCATATCTACA	0.383													A	93760654	G	A	93760654	3	1	250	1	0	0	0	0	1	0	0	0	1546	1087	38	1	2797	1	BTBD7	14	93760654	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	641882	93760654	13588886	1031	124959											
KIAA1409	57578	broad.mit.edu	37	chr14	94173056	94173056	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctttttcgacagcacttaTctgcgggactccagcttcgc	8	15	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:94173056T>A	uc001ybv.1	+	48	7332	c.7249T>A	c.(7249-7251)TCT>ACT	p.S2417T	KIAA1409_uc001ybs.1_Missense_Mutation_p.S2395T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2572						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		ACAGCACTTATCTGCGGGACT	0.577													A	94173056	T	A	94173056	3	1	250	1	0	0	0	0	1	0	0	0	8230	1435	50	5	7369	5	KIAA1409	14	94173056	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	412402	94173056	13176484	1032	124960											
DICER1	23405	broad.mit.edu	37	chr14	95574428	95574428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacacaggaaagtgtggAatcttagcaaaaggaaatgt	12	4	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:95574428A>G	uc001ydw.2	-	17	2621	c.2439T>C	c.(2437-2439)ATT>ATC	p.I813I	DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Silent_p.I803I|DICER1_uc001ydx.2_Silent_p.I813I	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	813					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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GAAAGTGTGGAATCTTAGCAA	0.373			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				G	95574428	A	G	95574428	2	3	250	1	0	0	0	0	0	0	0	1	4521	242	9	3		3	DICER1	14	95574428	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1401372	95574428	11775112	1033	124961											
DICER1	23405	broad.mit.edu	37	chr14	95590932	95590932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttctgtagttctcttAccatcattccagctacttta	4	10	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:95590932A>G	uc001ydw.2	-	9	1159	c.977T>C	c.(976-978)GTA>GCA	p.V326A	DICER1_uc001ydv.2_Missense_Mutation_p.V316A|DICER1_uc001ydx.2_Missense_Mutation_p.V326A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAGTTCTCTTACCATCATTCC	0.378			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				G	95590932	A	G	95590932	3	3	250	1	0	0	0	0	1	0	0	0	4521	391	14	3	4871	3	DICER1	14	95590932	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	16504	95590932	11758608	1034	124962											
CLMN	79789	broad.mit.edu	37	chr14	95670279	95670279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctgttccttttcctcAgcaacctcaactgccaagac	5	14	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:95670279A>G	uc001yef.2	-	9	1523	c.1407T>C	c.(1405-1407)GCT>GCC	p.A469A		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	469						integral to membrane	actin binding				0				Epithelial(152;0.193)		CCTTTTCCTCAGCAACCTCAA	0.468													G	95670279	A	G	95670279	2	3	250	1	0	0	0	0	0	0	0	1	3542	175	7	3		3	CLMN	14	95670279	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	79347	95670279	11679261	1035	124963											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452991	102452991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggtggctggcttgaaaaAggaagtgcaggccctgatcg	15	7	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:102452991A>G	uc001yks.2	+	8	2593	c.2429A>G	c.(2428-2430)AAG>AGG	p.K810R		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	810	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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GGCTTGAAAAAGGAAGTGCAG	0.517													G	102452991	A	G	102452991	3	3	250	1	0	0	0	0	1	0	0	0	4841	72	3	3	2459	3	DYNC1H1	14	102452991	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	6782712	102452991	4896549	1036	124964											
DYNC1H1	1778	broad.mit.edu	37	chr14	102493518	102493518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaatgtttcagaatattcCgtcaacctcaaggccacttg	7	11	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:102493518C>T	uc001yks.2	+	45	8943	c.8779C>T	c.(8779-8781)CGT>TGT	p.R2927C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2927	AAA 4 (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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAGAATATTCCGTCAACCTCA	0.428													T	102493518	C	T	102493518	3	4	250	1	0	0	0	0	1	0	0	0	4841	652	23	1	8957	1	DYNC1H1	14	102493518	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	40527	102493518	4856022	1037	124965											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505519	102505519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcaggaggtggagacCgtgtcccagcagtacctccc	13	13	1	1	rs149806996		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:102505519C>T	uc001yks.2	+	60	11552	c.11388C>T	c.(11386-11388)ACC>ACT	p.T3796T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3796	Potential.				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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGGTGGAGACCGTGTCCCAGC	0.577													T	102505519	C	T	102505519	2	4	250	1	0	0	0	0	0	0	0	1	4841	639	23	1		1	DYNC1H1	14	102505519	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	12001	102505519	4844021	1038	124966											
TRAF3	7187	broad.mit.edu	37	chr14	103338278	103338278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtccaaaatgtacagcGtgtcaagagagcatcgttaa	9	8	2	1	rs149018928		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:103338278G>A	uc001ymc.1	+	4	623	c.270G>A	c.(268-270)GCG>GCA	p.A90A	TRAF3_uc001yme.1_Silent_p.A90A|TRAF3_uc001ymd.1_Silent_p.A90A|TRAF3_uc010txy.1_Silent_p.A90A	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	90					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			ovary(1)|lung(1)|breast(1)	3		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)		AATGTACAGCGTGTCAAGAGA	0.403													A	103338278	G	A	103338278	2	1	250	1	0	0	0	0	0	0	0	1	16436	1132	40	1		1	TRAF3	14	103338278	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	832759	103338278	4011262	1039	124967											
CDC42BPB	9578	broad.mit.edu	37	chr14	103470322	103470322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatccactggcagtcgccGttcaccagcacatcgcgctc	10	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:103470322G>A	uc001ymi.1	-	4	622	c.390C>T	c.(388-390)AAC>AAT	p.N130N		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	130	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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGCAGTCGCCGTTCACCAGCA	0.622													A	103470322	G	A	103470322	2	1	250	1	0	0	0	0	0	0	0	1	3073	1136	40	1		1	CDC42BPB	14	103470322	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	132044	103470322	3879218	1040	124968											
PPP1R13B	23368	broad.mit.edu	37	chr14	104208418	104208418	+	Frame_Shift_Del	DEL	G	G	-													ctgttgtgaggagcctggctGgggggtgctgcctgtggcgg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:104208417_104208417TG>T	uc001yof.1	-	10	1815	c.1532_1532CA>A	c.(1531-1533)cagfs	p.Q511fs	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Frame_Shift_Del_p.Q378fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	511	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.Q511fs*39(1)		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)				GGAGCCTGGCTGGGGGGTGCT	0.647													-	104208418	G	-	104208418	7	5	250	1	0	1	0	1	0	0	0	0	12357	1357	47	0	1769	0	PPP1R13B	14	104208418	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	738096	104208418	3141122	1041	124969											
TDRD9	122402	broad.mit.edu	37	chr14	104508506	104508506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcagcttcaagacattgCccgtcagaagcttttagggt	11	10	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:104508506C>T	uc001yom.3	+	34	3986	c.3956C>T	c.(3955-3957)GCC>GTC	p.A1319V	TDRD9_uc001yon.3_Missense_Mutation_p.A866V	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1319					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAAGACATTGCCCGTCAGAAG	0.468													T	104508506	C	T	104508506	3	4	250	1	0	0	0	0	1	0	0	0	15733	739	26	2	4090	2	TDRD9	14	104508506	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	300088	104508506	2841034	1042	124970											
ASPG	374569	broad.mit.edu	37	chr14	104570673	104570673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcctcccctgaagggCgtggtcatggagaccttcgg	14	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:104570673C>T	uc001yoq.1	+	8	846	c.786C>T	c.(784-786)GGC>GGT	p.G262G	ASPG_uc001yoo.1_Silent_p.G290G|ASPG_uc001yop.1_Silent_p.G262G|ASPG_uc001yor.1_Silent_p.G262G	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	262	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						CCCTGAAGGGCGTGGTCATGG	0.677													T	104570673	C	T	104570673	2	4	250	1	0	0	0	0	0	0	0	1	1052	755	27	1		1	ASPG	14	104570673	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	62167	104570673	2778867	1043	124971											
INF2	64423	broad.mit.edu	37	chr14	105174271	105174271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggtccccagccatcggcGggtgaacccacccacactgc	11	17	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105174271G>A	uc001ypb.2	+	8	1810	c.1667G>A	c.(1666-1668)CGG>CAG	p.R556Q	INF2_uc010tyi.1_Missense_Mutation_p.R556Q|INF2_uc001ypc.2_Missense_Mutation_p.R556Q|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		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)		AGCCATCGGCGGGTGAACCCA	0.662													A	105174271	G	A	105174271	3	1	250	1	0	0	0	0	1	0	0	0	7734	1116	39	1	1697	1	INF2	14	105174271	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	603598	105174271	2175269	1044	124972											
AHNAK2	113146	broad.mit.edu	37	chr14	105407934	105407934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcccagctacatcctcGtgggccagggacaggtcccc	10	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105407934G>A	uc010axc.1	-	7	13974	c.13854C>T	c.(13852-13854)CAC>CAT	p.H4618H	AHNAK2_uc001ypx.2_Silent_p.H4518H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4618						nucleus				ovary(1)	1		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)			CTACATCCTCGTGGGCCAGGG	0.552													A	105407934	G	A	105407934	2	1	250	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105407934	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	233663	105407934	1941606	1045	124973											
MTA1	9112	broad.mit.edu	37	chr14	105936475	105936475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacaagcccatcgccctgCgccagagccaggccctgccg	10	20	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105936475C>T	uc001yqx.2	+	21	2258	c.2071C>T	c.(2071-2073)CGC>TGC	p.R691C	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R456C|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	691					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		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)		CATCGCCCTGCGCCAGAGCCA	0.652													T	105936475	C	T	105936475	3	4	250	1	0	0	0	0	1	0	0	0	9908	768	27	1	2153	1	MTA1	14	105936475	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	528541	105936475	1413065	1046	124974											
CRIP2	1397	broad.mit.edu	37	chr14	105945514	105945514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggccctgcctgcgctgCgagcgctgcgggaagacact	14	16	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr14:105945514C>T	uc001yrd.1	+	6	528	c.459C>T	c.(457-459)TGC>TGT	p.C153C	CRIP2_uc010tyr.1_Silent_p.C227C|CRIP2_uc001yre.1_Silent_p.C153C|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	NM_001312	NP_001303	P52943	CRIP2_HUMAN	cysteine-rich protein 2	153	LIM zinc-binding 2.						zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCCTGCGCTGCGAGCGCTGCG	0.667													T	105945514	C	T	105945514	2	4	250	1	0	0	0	0	0	0	0	1	3875	776	27	1		1	CRIP2	14	105945514	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9039	105945514	1404026	1047	124975											
ATP10A	57194	broad.mit.edu	37	chr15	25959170	25959170	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctgtagccgttgctggcGatggccgaggtgggctggcc	18	11	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:25959170G>A	uc010ayu.2	-	10	2101	c.1995C>T	c.(1993-1995)ATC>ATT	p.I665I		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	665	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CGTTGCTGGCGATGGCCGAGG	0.682													A	25959170	G	A	25959170	2	1	250	1	0	0	0	0	0	0	0	1	1116	1048	37	1		1	ATP10A	15	25959170	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08		25959170	76572222	1048	124976											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32925296	32925297	+	Frame_Shift_Ins	INS	-	-	A													aagtaaaagaattgcaggcaINSaaaaagtttgcaggtacttt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:32925295_32925296C>CA	uc001zgy.1	+	8	1943_1944	c.1221_1222C>CA	c.(1219-1224)ggcaaafs	p.G407fs	ARHGAP11A_uc010ubw.1_Frame_Shift_Ins_p.G218fs|ARHGAP11A_uc001zgw.3_Frame_Shift_Ins_p.G407fs|ARHGAP11A_uc010ubx.1_Frame_Shift_Ins_p.G218fs	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	407					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)		GAATTGCAGGCAAAAAAGTTTG	0.386													A	32925297	-	A	32925296	7	5	250	1	0	1	1	0	0	0	0	0	863	131	5	0	1256	0	ARHGAP11A	15	32925296	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	6966126	32925296	69606096	1049	124977											
C15orf55	256646	broad.mit.edu	37	chr15	34640629	34640629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtcctccaggccttcCgcctcagcctccaccaccag	10	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:34640629C>T	uc001zif.2	+	2	631	c.476C>T	c.(475-477)CCG>CTG	p.P159L	C15orf55_uc010ucc.1_Missense_Mutation_p.P187L|C15orf55_uc010ucd.1_Missense_Mutation_p.P177L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	159	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCAGGCCTTCCGCCTCAGCCT	0.587			T	BRD3|BRD4	lethal midline carcinoma								T	34640629	C	T	34640629	3	4	250	1	0	0	0	0	1	0	0	0	1803	652	23	1	482	1	C15orf55	15	34640629	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1715333	34640629	67890763	1050	124978											
GJD2	57369	broad.mit.edu	37	chr15	35045231	35045231	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacttcttatcttctcgtttGcccccaccactgcccccacc	3	20	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:35045231G>T	uc001zis.1	-	2	414	c.414C>A	c.(412-414)GGC>GGA	p.G138G	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	138	Cytoplasmic (Potential).|Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		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)		CTTCTCGTTTGCCCCCACCAC	0.532													T	35045231	G	T	35045231	2	4	250	1	0	0	0	0	0	0	0	1	6417	1306	46	5		5	GJD2	15	35045231	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	404602	35045231	67486161	1051	124979											
C15orf53	400359	broad.mit.edu	37	chr15	38988857	38988858	+	Frame_Shift_Ins	INS	-	-	C													gggcatttccctctctagtcINScccggaggaaccatgaaacc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:38988856_38988857T>TC	uc001zkf.1	+	0	58_59	c.48_49T>TC	c.(46-51)agtcccfs	p.S16fs		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	16										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		CCCTCTCTAGTCCCCGGAGGAA	0.559													C	38988858	-	C	38988857	7	5	250	1	0	1	1	0	0	0	0	0	1801	855	30	0	51	0	C15orf53	15	38988857	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	3943626	38988857	63542535	1052	124980											
BUB1B	701	broad.mit.edu	37	chr15	40477506	40477506	+	Frame_Shift_Del	DEL	C	C	-													cagtccagccatggatagcaCcccccatgcccagggccaaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:40477505_40477505AC>A	uc001zkx.4	+	6	1103	c.891_891AC>A	c.(889-891)gcafs	p.A297fs	BUB1B_uc010ucl.1_Frame_Shift_Del_p.A160fs	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	297					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)		CATGGATAGCACCCCCCATGC	0.478			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				-	40477506	C	-	40477506	7	5	250	1	0	1	0	1	0	0	0	0	1571	507	18	0	918	0	BUB1B	15	40477506	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	1488649	40477506	62053886	1053	124981											
PLCB2	5330	broad.mit.edu	37	chr15	40589757	40589757	+	Frame_Shift_Del	DEL	C	C	-													gggctctgtgagcagcatatCcccaaagatcgtccggcaat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:40589756_40589756TC>T	uc001zld.3	-	12	1590	c.1289_1289GA>A	c.(1288-1290)gatfs	p.D430fs	PLCB2_uc010bbo.3_Frame_Shift_Del_p.D430fs|PLCB2_uc010ucm.2_Frame_Shift_Del_p.D430fs	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	430	PI-PLC X-box.				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)		GAGCAGCATATCCCCAAAGAT	0.607													-	40589757	C	-	40589757	7	5	250	1	0	1	0	1	0	0	0	0	12028	855	30	0	2349	0	PLCB2	15	40589757	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	112251	40589757	61941635	1054	124982											
C15orf52	388115	broad.mit.edu	37	chr15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-													gctggtgtggtcacagccatCcccccctgctctgcctgccg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:40631781_40631781TC>T	uc001zlh.4	-	2	311	c.295_295GA>A	c.(295-297)atgfs	p.M99fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	99								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGC	0.647													-	40631782	C	-	40631782	7	5	250	1	0	1	0	1	0	0	0	0	1800	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	42025	40631782	61899610	1055	124983											
INO80	54617	broad.mit.edu	37	chr15	41364223	41364223	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccgtagggcagctgctcGactttcttttgcatcttcat	9	12	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:41364223G>A	uc001zni.2	-	12	1642	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	477	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			ovary(2)|pancreas(1)|skin(1)	4						GCAGCTGCTCGACTTTCTTTT	0.378													A	41364223	G	A	41364223	4	1	250	1	0	0	0	0	0	1	0	0	7746	1066	37	1	3341	1	INO80	15	41364223	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	732441	41364223	61167169	1056	124984											
RTF1	23168	broad.mit.edu	37	chr15	41762553	41762553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccagtgaaaagtcagacCgctcatcacgaacatcatcg	7	12	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:41762553C>T	uc001zny.2	+	7	1000	c.988C>T	c.(988-990)CGC>TGC	p.R330C		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	330	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		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)		AAAGTCAGACCGCTCATCACG	0.448													T	41762553	C	T	41762553	3	4	250	1	0	0	0	0	1	0	0	0	13721	652	23	1	1014	1	RTF1	15	41762553	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	398330	41762553	60768839	1057	124985											
SHF	90525	broad.mit.edu	37	chr15	45464123	45464123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctggtctcactgttgCgcaccaggtagctggcctct	11	13	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:45464123C>T	uc001zuy.2	-	7	1538	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SHF_uc010uen.1_Missense_Mutation_p.R164H|SHF_uc010ueo.1_Missense_Mutation_p.R164H|SHF_uc010uep.1_Silent_p.A163A|SHF_uc010ueq.1_Intron|SHF_uc010uer.1_Intron|SHF_uc010ues.1_Missense_Mutation_p.R211H|SHF_uc010uet.1_Missense_Mutation_p.R164H|SHF_uc010ueu.1_Silent_p.A210A	NM_138356	NP_612365	Q7M4L6	SHF_HUMAN	Src homology 2 domain containing F	Error:Variant_position_missing_in_B3KTY1_after_alignment										ovary(1)	1		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)		CTCACTGTTGCGCACCAGGTA	0.587													T	45464123	C	T	45464123	3	4	250	1	0	0	0	0	1	0	0	0	14277	768	27	1	236	1	SHF	15	45464123	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3701570	45464123	57067269	1058	124986											
DMXL2	23312	broad.mit.edu	37	chr15	51778519	51778519	+	Frame_Shift_Del	DEL	T	T	-													ggctagctgaatatcttccaTtttttcaagacatacctgca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:51778518_51778518AT>A	uc010ufy.2	-	22	5459	c.5234_5234AT>T	c.(5233-5235)atgfs	p.M1745fs	DMXL2_uc002abf.3_Frame_Shift_Del_p.M1745fs|DMXL2_uc010bfa.3_Frame_Shift_Del_p.M1109fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1745						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)		AATATCTTCCATTTTTTCAAG	0.294													-	51778519	T	-	51778519	7	5	250	1	0	1	0	1	0	0	0	0	4595	1493	52	0	3964	0	DMXL2	15	51778519	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	6314396	51778519	50752873	1059	124987											
MYO5A	4644	broad.mit.edu	37	chr15	52720753	52720753	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtctttggatctagaTggtattccaaatcctgaaaa	8	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:52720753T>G	uc002aby.2	-	3	396	c.152A>C	c.(151-153)CAT>CCT	p.H51P	MYO5A_uc002abx.3_Missense_Mutation_p.H51P|MYO5A_uc010uge.1_Intron	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	51	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGGATCTAGATGGTATTCCAA	0.453													G	52720753	T	G	52720753	3	3	250	1	0	0	0	0	1	0	0	0	10078	1464	51	5	5571	5	MYO5A	15	52720753	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	942234	52720753	49810639	1060	124988											
KIAA1370	56204	broad.mit.edu	37	chr15	52877021	52877021	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacttctcttcacttcttGtttaacaggtacagaaaaag	5	9	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:52877021G>A	uc002acg.3	-	12	3151	c.2998C>T	c.(2998-3000)CAA>TAA	p.Q1000*	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Nonsense_Mutation_p.Q912*|KIAA1370_uc002acf.3_Nonsense_Mutation_p.Q30*|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.Q1007*	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	1000											0				all cancers(107;0.0803)		TTCACTTCTTGTTTAACAGGT	0.368													A	52877021	G	A	52877021	4	1	250	1	0	0	0	0	0	1	0	0	8226	1386	48	4	240	4	KIAA1370	15	52877021	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	156268	52877021	49654371	1061	124989											
PIGB	9488	broad.mit.edu	37	chr15	55611484	55611484	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgcggaatggagccGgggggcggagatgccagcct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:55611484delG	uc002act.2	+	1	352	c.36delG	c.(34-36)CCGfs	p.P12fs	uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	NM_004855	NP_004846	Q92521	PIGB_HUMAN	phosphatidylinositol glycan, class B	12					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity				0				all cancers(107;0.0255)		GAATGGAGCCGGGGGGCGGAG	0.577													-	55611484	G	-	55611484	7	5	250	1	0	1	0	1	0	0	0	0	11885	1103	39	0	38	0	PIGB	15	55611484	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	2734463	55611484	46919908	1062	124990											
RFX7	64864	broad.mit.edu	37	chr15	56386689	56386689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcttgggagaataccatgGccagaaactgatgaattacc	10	8	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:56386689G>A	uc010bfn.2	-	9	3237	c.3237C>T	c.(3235-3237)GGC>GGT	p.G1079G	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.G893G	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	982					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						GAATACCATGGCCAGAAACTG	0.463													A	56386689	G	A	56386689	2	1	250	1	0	0	0	0	0	0	0	1	13268	1190	42	2		2	RFX7	15	56386689	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	775205	56386689	46144703	1063	124991											
SLTM	79811	broad.mit.edu	37	chr15	59182636	59182637	+	Frame_Shift_Del	DEL	CT	CT	-													atgcgttctcgctctcgacgCtctctctctgcaatctctct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:59182635_59182636GCT>G	uc002afp.3	-	14	2011_2012	c.1923_1924AGC>C	c.(1921-1926)gagcgtfs	p.E641fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E183fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E623fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E210fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E210fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	641	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCTCTCGACGCTCTCTCTCTG	0.396													-	59182637	CT	-	59182636	7	5	250	1	0	1	0	1	0	0	0	0	14754	796	28	0	1209	0	SLTM	15	59182636	Frame_Shift_Del	DEL	CT	TCGA-HF-7132-01A-11D-2053-08	2795947	59182636	43348756	1064	124992											
HERC1	8925	broad.mit.edu	37	chr15	64026998	64026998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaattccatccgttctcgTaatggaggtaacagcatggt	10	8	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:64026998T>C	uc002amp.2	-	13	2719	c.2571A>G	c.(2569-2571)TTA>TTG	p.L857L	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	857					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCCGTTCTCGTAATGGAGGTA	0.393													C	64026998	T	C	64026998	2	2	250	1	0	0	0	0	0	0	0	1	7057	1635	57	3		3	HERC1	15	64026998	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	4844362	64026998	38504394	1065	124993											
TRIP4	9325	broad.mit.edu	37	chr15	64687698	64687698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgaacctgacacgactGcagaggttaaaacacctttt	7	10	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:64687698G>A	uc002anm.2	+	3	416	c.373G>A	c.(373-375)GCA>ACA	p.A125T		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	125					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			ovary(1)|kidney(1)|skin(1)	3						TGACACGACTGCAGAGGTTAA	0.423													A	64687698	G	A	64687698	3	1	250	1	0	0	0	0	1	0	0	0	16555	1319	46	2	383	2	TRIP4	15	64687698	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	660700	64687698	37843694	1066	124994											
ITGA11	22801	broad.mit.edu	37	chr15	68619070	68619070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttggtgaatcggtccccGccctcgtccaggtgggccct	13	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:68619070G>A	uc002ari.2	-	17	2220	c.2133C>T	c.(2131-2133)GGC>GGT	p.G711G	ITGA11_uc010bib.2_Silent_p.G711G	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	711	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	ATCGGTCCCCGCCCTCGTCCA	0.617													A	68619070	G	A	68619070	2	1	250	1	0	0	0	0	0	0	0	1	7874	1074	38	1		1	ITGA11	15	68619070	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3931372	68619070	33912322	1067	124995											
GRAMD2	196996	broad.mit.edu	37	chr15	72459382	72459382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccattgggaaggagccGtgccatcttgtgttttttga	12	8	1	1	rs141536149		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:72459382G>A	uc002atq.2	-	6	448	c.424C>T	c.(424-426)CGG>TGG	p.R142W	GRAMD2_uc010bis.2_Missense_Mutation_p.R142W	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	142						integral to membrane					0						GGAAGGAGCCGTGCCATCTTG	0.572													A	72459382	G	A	72459382	3	1	250	1	0	0	0	0	1	0	0	0	6750	1144	40	1	668	1	GRAMD2	15	72459382	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3840312	72459382	30072010	1068	124996											
GRAMD2	196996	broad.mit.edu	37	chr15	72459395	72459396	+	Frame_Shift_Ins	INS	-	-	T													ggagccgtgccatcttgtgtINStttttgatcatttgcacaga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:72459394_72459395G>GT	uc002atq.3	-	5	435_436	c.411_412C>AC	c.(409-414)aaacacfs	p.K137fs	GRAMD2_uc010bis.2_Frame_Shift_Ins_p.K137fs	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	137	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GCCATCTTGTGTTTTTTGATCA	0.564													T	72459396	-	T	72459395	7	5	250	1	0	1	1	0	0	0	0	0	6750	1722	60	0	681	0	GRAMD2	15	72459395	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	13	72459395	30071997	1069	124997											
MPI	4351	broad.mit.edu	37	chr15	75189976	75189976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaatccctctgcaacgtGgtggcgtgctcttcattggg	11	13	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:75189976G>A	uc002azc.1	+	8	1182	c.1177G>A	c.(1177-1179)GGT>AGT	p.G393S	MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Missense_Mutation_p.G343S|MPI_uc002aze.1_Missense_Mutation_p.G332S	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	393					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			ovary(2)	2						TCTGCAACGTGGTGGCGTGCT	0.552													A	75189976	G	A	75189976	3	1	250	1	0	0	0	0	1	0	0	0	9729	1348	47	4	1207	4	MPI	15	75189976	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2730581	75189976	27341416	1070	124998											
SNX33	257364	broad.mit.edu	37	chr15	75941857	75941857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgggctgggcaccaaCgggcaccctcccctcaacct	12	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:75941857C>T	uc002bau.2	+	1	510	c.414C>T	c.(412-414)AAC>AAT	p.N138N	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	138					cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						TGGGCACCAACGGGCACCCTC	0.642													T	75941857	C	T	75941857	2	4	250	1	0	0	0	0	0	0	0	1	14903	535	19	1		1	SNX33	15	75941857	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	751881	75941857	26589535	1071	124999											
SNX33	257364	broad.mit.edu	37	chr15	75942196	75942196	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaaaagctacatctcCtacaagctcacacccaccca	4	17	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:75942196C>A	uc002bau.2	+	1	849	c.753C>A	c.(751-753)TCC>TCA	p.S251S	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	251	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						GCTACATCTCCTACAAGCTCA	0.542													A	75942196	C	A	75942196	2	1	250	1	0	0	0	0	0	0	0	1	14903	668	24	5		5	SNX33	15	75942196	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	339	75942196	26589196	1072	125000											
FBXO22	26263	broad.mit.edu	37	chr15	76225439	76225440	+	In_Frame_Ins	INS	-	-	AAT													atacatctggggtcatctaaINSataataattaaagtggcttt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:76225438_76225439A>AAAT	uc002bbk.3	+	6	1312_1313	c.1207_1208A>AAAT	c.(1207-1209)aaa>AAATa	p.K403K	FBXO22_uc002bbl.3_In_Frame_Ins_p.K299K|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	403					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	p.K403R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGGTCATCTAAATAATAATTA	0.322													AAT	76225440	-	AAT	76225439	7	5	250	1	0	1	1	0	0	0	0	0	5734	14	1	0	1271	0	FBXO22	15	76225439	In_Frame_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	283243	76225439	26305953	1073	125001											
MESDC2	23184	broad.mit.edu	37	chr15	81271767	81271767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccttgatctcccaggcGtagctcccatcgcgaagcat	9	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:81271767G>A	uc002bfy.1	-	3	571	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	166	Escort domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						TCTCCCAGGCGTAGCTCCCAT	0.537													A	81271767	G	A	81271767	2	1	250	1	0	0	0	0	0	0	0	1	9481	1140	40	1		1	MESDC2	15	81271767	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5046328	81271767	21259625	1074	125002											
MEX3B	84206	broad.mit.edu	37	chr15	82335526	82335526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagatgcggatggcctgaGtgaccgcggtgtggcagacc	16	9	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:82335526G>A	uc002bgq.1	-	2	2000	c.1685C>T	c.(1684-1686)ACT>ATT	p.T562I		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	562					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						GATGGCCTGAGTGACCGCGGT	0.652													A	82335526	G	A	82335526	3	1	250	1	0	0	0	0	1	0	0	0	9510	1029	36	4	28	4	MEX3B	15	82335526	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1063759	82335526	20195866	1075	125003											
HOMER2	9455	broad.mit.edu	37	chr15	83518521	83518521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaagtcatgcaggtcgtcAatcttcccgtccagcacctc	9	15	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:83518521A>G	uc002bjg.2	-	9	1197	c.1011T>C	c.(1009-1011)ATT>ATC	p.I337I	HOMER2_uc002bjh.2_Silent_p.I326I|HOMER2_uc002bjj.2_Silent_p.I271I|HOMER2_uc002bji.2_Silent_p.I282I	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	337					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						GCAGGTCGTCAATCTTCCCGT	0.597											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	83518521	A	G	83518521	2	3	250	1	0	0	0	0	0	0	0	1	7279	126	5	3		3	HOMER2	15	83518521	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1182995	83518521	19012871	1076	125004											
PDE8A	5151	broad.mit.edu	37	chr15	85660938	85660938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaattcttacactgctcCgagtcaacgctaagatcatg	8	10	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:85660938C>T	uc002blh.2	+	17	1791	c.1602C>T	c.(1600-1602)TCC>TCT	p.S534S	PDE8A_uc002bli.2_Silent_p.S488S|PDE8A_uc010bnc.2_Silent_p.S287S|PDE8A_uc010bnd.2_Silent_p.S287S|PDE8A_uc002blj.2_Silent_p.S154S|PDE8A_uc002blk.2_Silent_p.S154S|PDE8A_uc002bll.2_5'Flank	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	534	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			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TACACTGCTCCGAGTCAACGC	0.393													T	85660938	C	T	85660938	2	4	250	1	0	0	0	0	0	0	0	1	11653	639	23	1		1	PDE8A	15	85660938	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2142417	85660938	16870454	1077	125005											
AKAP13	11214	broad.mit.edu	37	chr15	86124395	86124395	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagagtcaaggcaggaagcCttgggggcagagcacaacag	15	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:86124395C>A	uc002blv.1	+	7	3266	c.3096C>A	c.(3094-3096)GCC>GCA	p.A1032A	AKAP13_uc002blt.1_Silent_p.A1032A|AKAP13_uc002blu.1_Silent_p.A1032A|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1032					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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GGCAGGAAGCCTTGGGGGCAG	0.597													A	86124395	C	A	86124395	2	1	250	1	0	0	0	0	0	0	0	1	449	668	24	5		5	AKAP13	15	86124395	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	463457	86124395	16406997	1078	125006											
AKAP13	11214	broad.mit.edu	37	chr15	86284413	86284413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggagaagcagcgccAggacctggccaacctgcaga	13	14	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:86284413A>G	uc002blv.1	+	35	7915	c.7745A>G	c.(7744-7746)CAG>CGG	p.Q2582R	AKAP13_uc002blu.1_Missense_Mutation_p.Q2586R|AKAP13_uc002blw.1_Missense_Mutation_p.Q1047R|AKAP13_uc002blx.1_Missense_Mutation_p.Q827R	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2582	Interaction with ESR1.|Potential.				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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAGCAGCGCCAGGACCTGGCC	0.662													G	86284413	A	G	86284413	3	3	250	1	0	0	0	0	1	0	0	0	449	188	7	3	7949	3	AKAP13	15	86284413	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	160018	86284413	16246979	1079	125007											
ACAN	176	broad.mit.edu	37	chr15	89392870	89392870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggcctgcctgcggtgGggacaagccaggcgtgagaa	16	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:89392870G>T	uc010upo.1	+	10	2308	c.1934G>T	c.(1933-1935)GGG>GTG	p.G645V	ACAN_uc002bmx.2_Missense_Mutation_p.G645V|ACAN_uc010upp.1_Missense_Mutation_p.G645V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	645					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCTGCGGTGGGGACAAGCCA	0.672													T	89392870	G	T	89392870	3	4	250	1	0	0	0	0	1	0	0	0	117	1232	43	5	1968	5	ACAN	15	89392870	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3108457	89392870	13138522	1080	125008											
RLBP1	6017	broad.mit.edu	37	chr15	89760393	89760393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacgttgaacttccgtgCgcggatgaagcgcaggaaga	14	11	0	3	rs143121722		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:89760393C>T	uc002bnl.2	-	5	684	c.304G>A	c.(304-306)GCA>ACA	p.A102T		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	102					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AACTTCCGTGCGCGGATGAAG	0.662													T	89760393	C	T	89760393	3	4	250	1	0	0	0	0	1	0	0	0	13388	768	27	1	669	1	RLBP1	15	89760393	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	367523	89760393	12770999	1081	125009											
FES	2242	broad.mit.edu	37	chr15	91433488	91433488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctcctgcaggatgacCgccactccacgtcgtcctcg	10	17	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:91433488C>T	uc002bpv.2	+	9	1312	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	FES_uc010uqj.1_Missense_Mutation_p.R348C|FES_uc010uqk.1_Missense_Mutation_p.R388C|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.R348C|FES_uc002bpx.2_Missense_Mutation_p.R406C|FES_uc002bpy.2_Missense_Mutation_p.R348C	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	406					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGGATGACCGCCACTCCAC	0.721													T	91433488	C	T	91433488	3	4	250	1	0	0	0	0	1	0	0	0	5820	652	23	1	1246	1	FES	15	91433488	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1673095	91433488	11097904	1082	125010											
ADAMTS17	170691	broad.mit.edu	37	chr15	100636613	100636613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagtggcaggtcttgccGtccccgctgcagaccccgca	11	17	1	1	rs141443664		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:100636613G>A	uc002bvv.1	-	15	2164	c.2085C>T	c.(2083-2085)GAC>GAT	p.D695D	ADAMTS17_uc002bvx.1_Silent_p.D452D	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	695	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGGTCTTGCCGTCCCCGCTGC	0.592													A	100636613	G	A	100636613	2	1	250	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100636613	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	9203125	100636613	1894779	1083	125011											
CHSY1	22856	broad.mit.edu	37	chr15	101717648	101717648	+	Frame_Shift_Del	DEL	T	T	-													ttttactgtaacttggatcaTttttttccagccacatctca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:101717647_101717647AT>A	uc021sxt.1	-	2	2831	c.2355_2355AT>T	c.(2353-2355)aatfs	p.N785fs	CHSY1_uc010usd.2_Frame_Shift_Del_p.N513fs	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	785					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			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)			AACTTGGATCATTTTTTTCCA	0.423													-	101717648	T	-	101717648	7	5	250	1	0	1	0	1	0	0	0	0	3412	1493	52	0	58	0	CHSY1	15	101717648	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	1081035	101717648	813744	1084	125012											
TARSL2	123283	broad.mit.edu	37	chr15	102224292	102224292	+	Frame_Shift_Del	DEL	A	A	-													gtttacctgctccactgtgcAaaaaatgtgagcatcgtcct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr15:102224291_102224291CA>C	uc002bxm.3	-	11	1692	c.1637_1637TG>G	c.(1636-1638)tgcfs	p.C546fs	TARSL2_uc002bxl.3_Frame_Shift_Del_p.C91fs|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	546					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)			CTCCACTGTGCAAAAAATGTG	0.468													-	102224292	A	-	102224292	7	5	250	1	0	1	0	1	0	0	0	0	15558	130	5	0	804	0	TARSL2	15	102224292	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	506644	102224292	307100	1085	125013											
HBQ1	3049	broad.mit.edu	37	chr16	231069	231069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgctggacaagttcctgAgccacgttatctcggcgctg	12	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:231069A>G	uc002cfz.2	+	3	542	c.391A>G	c.(391-393)AGC>GGC	p.S131G		NM_005331	NP_005322	P09105	HBAT_HUMAN	theta 1 globin	131						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		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)				CAAGTTCCTGAGCCACGTTAT	0.662													G	231069	A	G	231069	3	3	250	1	0	0	0	0	1	0	0	0	6986	304	11	3	401	3	HBQ1	16	231069	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08		231069	90123684	1086	125014											
WDR90	197335	broad.mit.edu	37	chr16	708580	708580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctcagtgaggacgcccGcttcctgctgattgccgccg	13	15	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:708580G>A	uc002cii.1	+	23	2876	c.2822G>A	c.(2821-2823)CGC>CAC	p.R941H	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.R468H|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.R115H|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	941	WD 10.									ovary(1)	1		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662													A	708580	G	A	708580	3	1	250	1	0	0	0	0	1	0	0	0	17334	1087	38	1	2912	1	WDR90	16	708580	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	477511	708580	89646173	1087	125015											
MSLNL	401827	broad.mit.edu	37	chr16	830735	830735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacagctgtgtgcacggGtaggtgacagctgtgtgcac	17	8	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:830735G>A	uc002cjz.1	-	3	266	c.266C>T	c.(265-267)ACC>ATC	p.T89I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:Variant_position_missing_in_Q96KJ4_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GTGTGCACGGGTAGGTGACAG	0.587													A	830735	G	A	830735	3	1	250	1	0	0	0	0	1	0	0	0	9882	1261	44	4	2951	4	MSLNL	16	830735	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	122155	830735	89524018	1088	125016											
UNKL	64718	broad.mit.edu	37	chr16	1416381	1416381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacacactgcttggcgcGgagctggaagatcacctgca	13	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:1416381G>A	uc010brn.1	-	9	1051	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	UNKL_uc002cln.2_Missense_Mutation_p.R187C|UNKL_uc002clo.2_Missense_Mutation_p.R184C|UNKL_uc002clp.2_Missense_Mutation_p.R137C			Q9H9P5	UNKL_HUMAN	SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;	635						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding				0		Hepatocellular(780;0.0893)				TGCTTGGCGCGGAGCTGGAAG	0.711													A	1416381	G	A	1416381	3	1	250	1	0	0	0	0	1	0	0	0	16998	1116	39	1	143	1	UNKL	16	1416381	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	585646	1416381	88938372	1089	125017											
CRAMP1L	57585	broad.mit.edu	37	chr16	1709951	1709951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaggagcagtcgatgaCgcccccagggaaggtggtga	17	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:1709951C>T	uc010uvh.1	+	10	2300	c.2300C>T	c.(2299-2301)ACG>ATG	p.T767M	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	767						nucleus	DNA binding				0						CAGTCGATGACGCCCCCAGGG	0.622													T	1709951	C	T	1709951	3	4	250	1	0	0	0	0	1	0	0	0	3846	536	19	1	2338	1	CRAMP1L	16	1709951	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	293570	1709951	88644802	1090	125018											
TBL3	10607	broad.mit.edu	37	chr16	2025090	2025090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcgccgacggccacaCcatgctcaggtcagcagtgg	12	15	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:2025090C>T	uc002cnu.1	+	7	728	c.626C>T	c.(625-627)ACC>ATC	p.T209I	TBL3_uc002cnv.1_Missense_Mutation_p.T95I|TBL3_uc010bsb.1_Silent_p.H23H|TBL3_uc010bsc.1_Missense_Mutation_p.T95I|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	209	WD 4.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GACGGCCACACCATGCTCAGG	0.642													T	2025090	C	T	2025090	3	4	250	1	0	0	0	0	1	0	0	0	15640	507	18	4	652	4	TBL3	16	2025090	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	315139	2025090	88329663	1091	125019											
ZNF174	7727	broad.mit.edu	37	chr16	3452111	3452112	+	Frame_Shift_Ins	INS	-	-	A													aaacggggccctcctctgcaINSaaaaaactgcccagatcctg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3452110_3452111C>CA	uc002cvc.3	+	0	921_922	c.106_107C>CA	c.(106-108)caafs	p.Q36fs	ZNF434_uc002cux.4_5'Flank|ZNF434_uc010uwx.2_5'Flank|ZNF434_uc002cuy.4_5'Flank|ZNF434_uc002cuz.3_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Frame_Shift_Ins_p.Q36fs|ZNF174_uc002cvb.3_Frame_Shift_Ins_p.Q36fs	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	36					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						CCCTCCTCTGCAAAAAAACTGC	0.5													A	3452112	-	A	3452111	7	5	250	1	0	1	1	0	0	0	0	0	17741	130	5	0	109	0	ZNF174	16	3452111	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1427021	3452111	86902642	1092	125020											
BTBD12	84464	broad.mit.edu	37	chr16	3640830	3640830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctgctccccgtgcccCtgagtgctggccctggggtg	15	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3640830C>A	uc002cvp.2	-	12	3436	c.2809G>T	c.(2809-2811)GGG>TGG	p.G937W		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	937	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCCCGTGCCCCTGAGTGCTGG	0.672								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3640830	C	A	3640830	3	1	250	1	0	0	0	0	1	0	0	0	1540	681	24	5	2711	5	BTBD12	16	3640830	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	188719	3640830	86713923	1093	125021											
DNASE1	1773	broad.mit.edu	37	chr16	3706656	3706656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcctgaccaggtgtctgCggtggacagctactactacg	13	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3706656C>T	uc002cvr.2	+	5	2445	c.338C>T	c.(337-339)GCG>GTG	p.A113V		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	113					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CAGGTGTCTGCGGTGGACAGC	0.647								Direct_reversal_of_damage					T	3706656	C	T	3706656	3	4	250	1	0	0	0	0	1	0	0	0	4660	768	27	1	352	1	DNASE1	16	3706656	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	65826	3706656	86648097	1094	125022											
CREBBP	1387	broad.mit.edu	37	chr16	3777763	3777763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcgtgtcccccgtggtgtCcccgaccagggacagttcgc	13	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:3777763C>T	uc002cvv.2	-	31	7489	c.7285G>A	c.(7285-7287)GAC>AAC	p.D2429N	CREBBP_uc002cvw.2_Missense_Mutation_p.D2391N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2429					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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCGTGGTGTCCCCGACCAGG	0.552			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3777763	C	T	3777763	3	4	250	1	0	0	0	0	1	0	0	0	3861	855	30	4	47	4	CREBBP	16	3777763	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	71107	3777763	86576990	1095	125023											
MGRN1	23295	broad.mit.edu	37	chr16	4700414	4700414	+	Frame_Shift_Del	DEL	C	C	-													gggaggagagaaattcgacaCcccccaccctgaaggttacc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4700413_4700413AC>A	uc002cxa.3	+	1	273	c.136_136AC>A	c.(136-138)accfs	p.T46fs	MGRN1_uc002cwz.3_Frame_Shift_Del_p.T46fs|MGRN1_uc010uxo.2_Frame_Shift_Del_p.T46fs|MGRN1_uc010uxp.2_Frame_Shift_Del_p.T46fs|MGRN1_uc010btw.3_Frame_Shift_Del_p.T46fs|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	46					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|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						GAAATTCGACACCCCCCACCC	0.463													-	4700414	C	-	4700414	7	5	250	1	0	1	0	1	0	0	0	0	9559	507	18	0	143	0	MGRN1	16	4700414	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	922651	4700414	85654339	1096	125024											
MGRN1	23295	broad.mit.edu	37	chr16	4723603	4723603	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccacctgtgcctctgtacCtcctgcgccgacacgctgcg	10	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4723603C>A	uc002cwz.2	+	10	1036	c.900C>A	c.(898-900)ACC>ACA	p.T300T	MGRN1_uc002cxa.2_Silent_p.T300T|MGRN1_uc010btx.2_Silent_p.T301T|MGRN1_uc010btw.2_Silent_p.T301T|MGRN1_uc002cxb.2_Silent_p.T339T|MGRN1_uc010uxo.1_Silent_p.T300T|MGRN1_uc010uxp.1_Silent_p.T300T|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	300	RING-type.				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|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						GCCTCTGTACCTCCTGCGCCG	0.637													A	4723603	C	A	4723603	2	1	250	1	0	0	0	0	0	0	0	1	9559	668	24	5		5	MGRN1	16	4723603	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	23189	4723603	85631150	1097	125025											
MGRN1	23295	broad.mit.edu	37	chr16	4730034	4730034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatttttatcttgacagtGtccctttaaaaaatcaaagc	5	7	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4730034G>A	uc002cwz.2	+	12	1203	c.1067G>A	c.(1066-1068)TGT>TAT	p.C356Y	MGRN1_uc002cxa.2_Missense_Mutation_p.C356Y|MGRN1_uc010btx.2_Intron|MGRN1_uc010btw.2_Intron|MGRN1_uc002cxb.2_Missense_Mutation_p.C395Y|MGRN1_uc010uxo.1_Intron|MGRN1_uc010uxp.1_Intron|MGRN1_uc010uxq.1_Intron	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	356					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|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						TCTTGACAGTGTCCCTTTAAA	0.527													A	4730034	G	A	4730034	3	1	250	1	0	0	0	0	1	0	0	0	9559	1391	48	4	1116	4	MGRN1	16	4730034	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6431	4730034	85624719	1098	125026											
UBN1	29855	broad.mit.edu	37	chr16	4908638	4908638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtatggttatgatgaatccGactccttcatcgataactct	8	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:4908638G>A	uc002cyb.2	+	4	745	c.406G>A	c.(406-408)GAC>AAC	p.D136N	UBN1_uc010uxw.1_Missense_Mutation_p.D136N|UBN1_uc002cyc.2_Missense_Mutation_p.D136N	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	136	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			skin(2)	2						TGATGAATCCGACTCCTTCAT	0.443													A	4908638	G	A	4908638	3	1	250	1	0	0	0	0	1	0	0	0	16889	1058	37	1	416	1	UBN1	16	4908638	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	178604	4908638	85446115	1099	125027											
C16orf68	79091	broad.mit.edu	37	chr16	8722948	8722948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagcacaaggcagcccGcacgatatcatcagaatagg	12	10	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:8722948G>A	uc002cyz.2	+	3	771	c.495G>A	c.(493-495)CCG>CCA	p.P165P	C16orf68_uc002cza.2_Silent_p.P109P	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	165							methyltransferase activity				0						AAGGCAGCCCGCACGATATCA	0.537													A	8722948	G	A	8722948	2	1	250	1	0	0	0	0	0	0	0	1	1827	1074	38	1		1	C16orf68	16	8722948	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3814310	8722948	81631805	1100	125028											
GRIN2A	2903	broad.mit.edu	37	chr16	9857693	9857693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatccgcaggcaggcatcGcacttgaagggggacctcat	12	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:9857693G>A	uc002czo.3	-	13	4256	c.3708C>T	c.(3706-3708)TGC>TGT	p.C1236C	GRIN2A_uc010uym.1_Silent_p.C1236C|GRIN2A_uc010uyn.1_Silent_p.C1079C|GRIN2A_uc002czr.3_Silent_p.C1236C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1236	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCAGGCATCGCACTTGAAGG	0.587													A	9857693	G	A	9857693	2	1	250	1	0	0	0	0	0	0	0	1	6779	1079	38	1		1	GRIN2A	16	9857693	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1134745	9857693	80497060	1101	125029											
MYH11	4629	broad.mit.edu	37	chr16	15832541	15832541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctctcctcaaggagttttCgttcctttttggggaaagag	10	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:15832541C>T	uc002ddy.2	-	24	3109	c.3002G>A	c.(3001-3003)CGA>CAA	p.R1001Q	MYH11_uc002ddv.2_Missense_Mutation_p.R1008Q|MYH11_uc002ddw.2_Missense_Mutation_p.R1001Q|MYH11_uc002ddx.2_Missense_Mutation_p.R1008Q|MYH11_uc010bvg.2_Missense_Mutation_p.R833Q	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1001	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAGGAGTTTTCGTTCCTTTTT	0.358			T	CBFB	AML								T	15832541	C	T	15832541	3	4	250	1	0	0	0	0	1	0	0	0	10031	884	31	1	3023	1	MYH11	16	15832541	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5974848	15832541	74522212	1102	125030											
SYT17	51760	broad.mit.edu	37	chr16	19191811	19191811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccccggatggaagacgctCgtcctcagacacatccaagt	9	14	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:19191811C>T	uc002dfw.2	+	4	612	c.281C>T	c.(280-282)TCG>TTG	p.S94L	SYT17_uc002dfx.2_Missense_Mutation_p.S33L|SYT17_uc002dfy.2_Missense_Mutation_p.S90L|SYT17_uc002dfv.1_Missense_Mutation_p.S33L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	94						membrane|synaptic vesicle	transporter activity			ovary(1)	1						GGAAGACGCTCGTCCTCAGAC	0.582											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	19191811	C	T	19191811	3	4	250	1	0	0	0	0	1	0	0	0	15470	893	31	1	295	1	SYT17	16	19191811	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3359270	19191811	71162942	1103	125031											
CP110	9738	broad.mit.edu	37	chr16	19548145	19548145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttccaggacatcatcagCgtgtcatatacttataaata	6	9	3	0	rs142177955		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:19548145C>T	uc002dgl.3	+	4	1401	c.1154C>T	c.(1153-1155)GCG>GTG	p.A385V	CP110_uc002dgk.3_Missense_Mutation_p.A385V			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	385	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						ACATCATCAGCGTGTCATATA	0.368													T	19548145	C	T	19548145	3	4	250	1	0	0	0	0	1	0	0	0	3788	768	27	1	1164	1	CP110	16	19548145	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	356334	19548145	70806608	1104	125032											
IQCK	124152	broad.mit.edu	37	chr16	19745048	19745048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagaggaaatgctttttcAtggcttcagtgcagagcact	11	7	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:19745048A>G	uc002dgr.2	+	4	974	c.275A>G	c.(274-276)CAT>CGT	p.H92R	IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.H92R|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Missense_Mutation_p.H4R	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	IQ motif containing K	92										skin(1)	1						ATGCTTTTTCATGGCTTCAGT	0.433													G	19745048	A	G	19745048	3	3	250	1	0	0	0	0	1	0	0	0	7813	217	8	3	285	3	IQCK	16	19745048	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	196903	19745048	70609705	1105	125033											
DNAH3	55567	broad.mit.edu	37	chr16	20975853	20975853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggtgcctaactgcagcGcgttttccagcatcctcatg	11	13	1	0	rs148895333		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:20975853G>A	uc010vbe.1	-	53	9353	c.9353C>T	c.(9352-9354)GCG>GTG	p.A3118V	DNAH3_uc010vbd.1_Missense_Mutation_p.A553V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3118	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TAACTGCAGCGCGTTTTCCAG	0.458													A	20975853	G	A	20975853	3	1	250	1	0	0	0	0	1	0	0	0	4603	1087	38	1	3036	1	DNAH3	16	20975853	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1230805	20975853	69378900	1106	125034											
DNAH3	55567	broad.mit.edu	37	chr16	21053360	21053360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatttaccttgagattgtCgggcagttcagccctgccag	12	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:21053360C>T	uc010vbe.1	-	32	4627	c.4627G>A	c.(4627-4629)GAC>AAC	p.D1543N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGAGATTGTCGGGCAGTTCA	0.403													T	21053360	C	T	21053360	3	4	250	1	0	0	0	0	1	0	0	0	4603	884	31	1	7846	1	DNAH3	16	21053360	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	77507	21053360	69301393	1107	125035											
DNAH3	55567	broad.mit.edu	37	chr16	21060917	21060917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgaactcatcaaagcaCgcccatgctccagcctgtgc	8	15	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:21060917C>T	uc010vbe.1	-	31	4434	c.4434G>A	c.(4432-4434)GCG>GCA	p.A1478A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1478	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATCAAAGCACGCCCATGCTC	0.517													T	21060917	C	T	21060917	2	4	250	1	0	0	0	0	0	0	0	1	4603	523	19	1		1	DNAH3	16	21060917	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	7557	21060917	69293836	1108	125036											
HS3ST2	9956	broad.mit.edu	37	chr16	22926539	22926539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccgcatcggcatgtacGtgctgcacctggagagctgg	13	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:22926539G>A	uc002dli.2	+	2	832	c.760G>A	c.(760-762)GTG>ATG	p.V254M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	254	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CGGCATGTACGTGCTGCACCT	0.632													A	22926539	G	A	22926539	3	1	250	1	0	0	0	0	1	0	0	0	7364	1145	40	1	766	1	HS3ST2	16	22926539	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1865622	22926539	67428214	1109	125037											
UBFD1	56061	broad.mit.edu	37	chr16	23569516	23569516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggacttgaagatcAtctggaataagaccaagcat	11	7	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:23569516A>G	uc002dlv.2	+	2	473	c.271A>G	c.(271-273)ATC>GTC	p.I91V	EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	91	Ubiquitin-like.										0				GBM - Glioblastoma multiforme(48;0.0331)		CTTGAAGATCATCTGGAATAA	0.637													G	23569516	A	G	23569516	3	3	250	1	0	0	0	0	1	0	0	0	16881	217	8	3	277	3	UBFD1	16	23569516	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	642977	23569516	66785237	1110	125038											
AQP8	343	broad.mit.edu	37	chr16	25238448	25238448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttggacctgcggtggtggCcaaccactggaacttccact	11	12	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:25238448C>A	uc002doc.2	+	5	744	c.662C>A	c.(661-663)GCC>GAC	p.A221D		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	221	Extracellular (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		GCGGTGGTGGCCAACCACTGG	0.612													A	25238448	C	A	25238448	3	1	250	1	0	0	0	0	1	0	0	0	832	739	26	5	680	5	AQP8	16	25238448	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1668932	25238448	65116305	1111	125039											
SRCAP	10847	broad.mit.edu	37	chr16	30749699	30749699	+	Frame_Shift_Del	DEL	G	G	-													ctgccagcaccctagtgcctGgggtctctgagactagtgcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:30749698_30749698TG>T	uc002dze.1	+	33	8722	c.8337_8337TG>T	c.(8335-8337)cctfs	p.P2779fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P2574fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2779	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)			CCCTAGTGCCTGGGGTCTCTG	0.647													-	30749699	G	-	30749699	7	5	250	1	0	1	0	1	0	0	0	0	15134	1348	47	0	8464	0	SRCAP	16	30749699	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	5511251	30749699	59605054	1112	125040											
RNF40	9810	broad.mit.edu	37	chr16	30785346	30785346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgcttcgagtgcgtgCggggccgctatgaggcccgc	15	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:30785346C>T	uc002dzq.2	+	20	3040	c.2917C>T	c.(2917-2919)CGG>TGG	p.R973W	RNF40_uc010caa.2_Missense_Mutation_p.R972W|RNF40_uc010cab.2_Missense_Mutation_p.R873W|RNF40_uc010vfa.1_Missense_Mutation_p.R305W|RNF40_uc002dzr.2_Missense_Mutation_p.R973W|RNF40_uc010vfb.1_Missense_Mutation_p.R665W	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	973	RING-type.				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(1)	1			Colorectal(24;0.198)			CGAGTGCGTGCGGGGCCGCTA	0.597													T	30785346	C	T	30785346	3	4	250	1	0	0	0	0	1	0	0	0	13493	759	27	1	2991	1	RNF40	16	30785346	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	35647	30785346	59569407	1113	125041											
SETD1A	9739	broad.mit.edu	37	chr16	30991437	30991437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggacatgagttacctgCggcttacgtacgagcggctg	14	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:30991437C>T	uc002ead.1	+	14	5016	c.4330C>T	c.(4330-4332)CGG>TGG	p.R1444W		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1444	Interaction with CFP1.				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			ovary(2)|skin(1)	3						GAGTTACCTGCGGCTTACGTA	0.522													T	30991437	C	T	30991437	3	4	250	1	0	0	0	0	1	0	0	0	14130	759	27	1	4380	1	SETD1A	16	30991437	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	206091	30991437	59363316	1114	125042											
PYDC1	260434	broad.mit.edu	37	chr16	31228238	31228238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcgccccgcgggatgcGctcaaagccctcgcgcagcg	15	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:31228238G>A	uc002ebo.2	-	1	161	c.112C>T	c.(112-114)CGC>TGC	p.R38C	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	38	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				0						CGCGGGATGCGCTCAAAGCCC	0.647													A	31228238	G	A	31228238	3	1	250	1	0	0	0	0	1	0	0	0	12858	1087	38	1	161	1	PYDC1	16	31228238	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	236801	31228238	59126515	1115	125043											
ITGAX	3687	broad.mit.edu	37	chr16	31383830	31383830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatacttcacggcctcCgtgagtcctggcactgggtc	12	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:31383830C>T	uc002ebu.1	+	18	2359	c.2292C>T	c.(2290-2292)TCC>TCT	p.S764S	ITGAX_uc002ebt.2_Silent_p.S764S	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	764	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCACGGCCTCCGTGAGTCCTG	0.627													T	31383830	C	T	31383830	2	4	250	1	0	0	0	0	0	0	0	1	7889	666	23	1		1	ITGAX	16	31383830	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	155592	31383830	58970923	1116	125044											
SLC5A2	6524	broad.mit.edu	37	chr16	31496148	31496149	+	Frame_Shift_Del	DEL	CT	CT	-													ctggccacccaggttggggcCtctctcttcgccagcaacat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:31496147_31496148CCT>C	uc002ecf.4	+	2	225_226	c.206_207CCT>C	c.(205-207)gccfs	p.A69fs	SLC5A2_uc010car.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	69					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.L71fs*47(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CAGGTTGGGGCCTCTCTCTTCG	0.653													-	31496149	CT	-	31496148	7	5	250	1	0	1	0	1	0	0	0	0	14665	668	24	0	217	0	SLC5A2	16	31496148	Frame_Shift_Del	DEL	CT	TCGA-HF-7132-01A-11D-2053-08	112318	31496148	58858605	1117	125045											
ABCC12	94160	broad.mit.edu	37	chr16	48138137	48138137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccaagatcacgagaataAacaccaccataaaaaactgc	5	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:48138137A>G	uc002efc.1	-	20	3162	c.2816T>C	c.(2815-2817)TTT>TCT	p.F939S	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	939	ABC transmembrane type-1 2.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CACGAGAATAAACACCACCAT	0.493													G	48138137	A	G	48138137	3	3	250	1	0	0	0	0	1	0	0	0	52	14	1	3	1303	3	ABCC12	16	48138137	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	16641989	48138137	42216616	1118	125046											
SALL1	6299	broad.mit.edu	37	chr16	51174228	51174228	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggacgctactgctcgccgtCgggactgagttggtgaccat	14	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:51174228C>T	uc010vgs.1	-	2	1936	c.1905G>A	c.(1903-1905)CCG>CCA	p.P635P	SALL1_uc010vgr.1_Silent_p.P538P|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	635					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTCGCCGTCGGGACTGAGT	0.637													T	51174228	C	T	51174228	2	4	250	1	0	0	0	0	0	0	0	1	13810	871	31	1		1	SALL1	16	51174228	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3036091	51174228	39180525	1119	125047											
CHD9	80205	broad.mit.edu	37	chr16	53341746	53341746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcagctacagaatacagcGatcccagtgtacccactccc	8	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:53341746G>A	uc002ehb.2	+	32	7098	c.6934G>A	c.(6934-6936)GAT>AAT	p.D2312N	CHD9_uc002egy.2_Missense_Mutation_p.D2312N|CHD9_uc002ehc.2_Missense_Mutation_p.D2313N|CHD9_uc002ehf.2_Missense_Mutation_p.D1426N|CHD9_uc010cbw.2_Missense_Mutation_p.D378N|CHD9_uc002ehg.1_Missense_Mutation_p.D319N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2312					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				AGAATACAGCGATCCCAGTGT	0.468													A	53341746	G	A	53341746	3	1	250	1	0	0	0	0	1	0	0	0	3332	1058	37	1	7060	1	CHD9	16	53341746	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2167518	53341746	37013007	1120	125048											
GPR56	9289	broad.mit.edu	37	chr16	57691305	57691305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctcggtggaggtggaCgccgtgcacaagcactacct	13	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:57691305C>T	uc002emb.2	+	11	1480	c.1188C>T	c.(1186-1188)GAC>GAT	p.D396D	GPR56_uc002elz.1_Silent_p.D226D|GPR56_uc002ema.1_Silent_p.D221D|GPR56_uc002emc.2_Silent_p.D396D|GPR56_uc002emf.2_Silent_p.D396D|GPR56_uc010vhs.1_Silent_p.D396D|GPR56_uc002emd.2_Silent_p.D396D|GPR56_uc002eme.2_Silent_p.D396D|GPR56_uc010vht.1_Silent_p.D401D|GPR56_uc002emg.3_Silent_p.D396D|GPR56_uc010vhu.1_Silent_p.D221D	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	396	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						TGGAGGTGGACGCCGTGCACA	0.637													T	57691305	C	T	57691305	2	4	250	1	0	0	0	0	0	0	0	1	6700	535	19	1		1	GPR56	16	57691305	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4349559	57691305	32663448	1121	125049											
ZNF319	57567	broad.mit.edu	37	chr16	58031995	58031995	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgtgggggctgcaggcCggggtctggctgcaggagga	22	7	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:58031995C>G	uc002emx.1	-	2	798	c.175G>C	c.(175-177)GGC>CGC	p.G59R		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	59	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCTGCAGGCCGGGGTCTGGC	0.697													G	58031995	C	G	58031995	3	3	250	1	0	0	0	0	1	0	0	0	17834	652	23	5	1577	5	ZNF319	16	58031995	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	340690	58031995	32322758	1122	125050											
CDH11	1009	broad.mit.edu	37	chr16	65016141	65016141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgctgataaacttcgggtCgatgtgcacgttggctgcct	12	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:65016141C>T	uc002eoi.2	-	8	1497	c.1063G>A	c.(1063-1065)GAC>AAC	p.D355N	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.D355N|CDH11_uc010vin.1_Missense_Mutation_p.D229N|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	355	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	65016141	C	T	65016141	3	4	250	1	0	0	0	0	1	0	0	0	3097	884	31	1	1351	1	CDH11	16	65016141	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	6984146	65016141	25338612	1123	125051											
KIAA0895L	653319	broad.mit.edu	37	chr16	67213378	67213378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccagtactggcgggctcCggtcaggttgatcgccaatg	13	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:67213378C>T	uc002ert.2	-	4	1577	c.802G>A	c.(802-804)GGA>AGA	p.G268R	KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Missense_Mutation_p.G268R|EXOC3L_uc002erv.1_RNA	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	268											0						TGGCGGGCTCCGGTCAGGTTG	0.622													T	67213378	C	T	67213378	3	4	250	1	0	0	0	0	1	0	0	0	8198	661	23	1	629	1	KIAA0895L	16	67213378	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2197237	67213378	23141375	1124	125052											
GFOD2	81577	broad.mit.edu	37	chr16	67709886	67709886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagctgcgggtagtagcgCgaggctgtcaccatccggaa	15	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:67709886C>T	uc002eub.2	-	3	625	c.330G>A	c.(328-330)TCG>TCA	p.S110S	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.S5S	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	110						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		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)		GGTAGTAGCGCGAGGCTGTCA	0.542													T	67709886	C	T	67709886	2	4	250	1	0	0	0	0	0	0	0	1	6344	755	27	1		1	GFOD2	16	67709886	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	496508	67709886	22644867	1125	125053											
DPEP2	64174	broad.mit.edu	37	chr16	68025854	68025854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctctacaccgatgagGcaggccaatttctgagtgtc	9	14	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:68025854G>A	uc010cey.2	-	4	713	c.549C>T	c.(547-549)TGC>TGT	p.C183C	DPEP2_uc002evd.3_Silent_p.C183C|DPEP2_uc002eve.2_Silent_p.C183C|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_3'UTR	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	183					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACCGATGAGGCAGGCCAATT	0.547													A	68025854	G	A	68025854	2	1	250	1	0	0	0	0	0	0	0	1	4714	1195	42	2		2	DPEP2	16	68025854	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	315968	68025854	22328899	1126	125054											
PLA2G15	23659	broad.mit.edu	37	chr16	68293136	68293136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagctggctgctgccctAcaactacacatggtcacctg	8	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:68293136A>G	uc002evr.2	+	6	898	c.815A>G	c.(814-816)TAC>TGC	p.Y272C	PLA2G15_uc010vld.1_Silent_p.L230L|PLA2G15_uc010vle.1_Missense_Mutation_p.Y178C|PLA2G15_uc010vlf.1_Missense_Mutation_p.Y72C|PLA2G15_uc002evs.2_Missense_Mutation_p.Y93C	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	272					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						CTGCTGCCCTACAACTACACA	0.572													G	68293136	A	G	68293136	3	3	250	1	0	0	0	0	1	0	0	0	11992	391	14	3	837	3	PLA2G15	16	68293136	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	267282	68293136	22061617	1127	125055											
CDH3	1001	broad.mit.edu	37	chr16	68732297	68732297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtacggtggcggggaggaCgactaggcggcctgcctgca	18	10	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:68732297C>T	uc002ewf.2	+	16	3616	c.2484C>T	c.(2482-2484)GAC>GAT	p.D828D	CDH3_uc010vli.1_Silent_p.D773D	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	828	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GCGGGGAGGACGACTAGGCGG	0.607													T	68732297	C	T	68732297	2	4	250	1	0	0	0	0	0	0	0	1	3111	535	19	1		1	CDH3	16	68732297	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	439161	68732297	21622456	1128	125056											
CIRH1A	84916	broad.mit.edu	37	chr16	69184788	69184788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaattacgatgccgctctccGaaaaatcacctttccccacg	6	15	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:69184788G>A	uc002ews.3	+	8	1079	c.983G>A	c.(982-984)CGA>CAA	p.R328Q	CIRH1A_uc002ewr.2_Missense_Mutation_p.R328Q|CIRH1A_uc002ewt.3_Missense_Mutation_p.R245Q|CIRH1A_uc010cfi.2_Missense_Mutation_p.R245Q|CIRH1A_uc010cfj.1_Missense_Mutation_p.R147Q	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	328	WD 8.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCGCTCTCCGAAAAATCACC	0.537													A	69184788	G	A	69184788	3	1	250	1	0	0	0	0	1	0	0	0	3434	1058	37	1	1009	1	CIRH1A	16	69184788	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	452491	69184788	21169965	1129	125057											
WWP2	11060	broad.mit.edu	37	chr16	69875982	69875982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtagctccagagaaccgGcaccagccccccagcacaaa	9	17	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:69875982G>A	uc002exu.1	+	7	623	c.534G>A	c.(532-534)CGG>CGA	p.R178R	WWP2_uc002ext.2_Silent_p.R178R|WWP2_uc002exv.1_Silent_p.R178R|WWP2_uc010vlm.1_Silent_p.R62R	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	178					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			lung(3)|ovary(1)|breast(1)|skin(1)	6						CAGAGAACCGGCACCAGCCCC	0.502													A	69875982	G	A	69875982	2	1	250	1	0	0	0	0	0	0	0	1	17413	1190	42	2		2	WWP2	16	69875982	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	691194	69875982	20478771	1130	125058											
PDPR	55066	broad.mit.edu	37	chr16	70176286	70176286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagtactttgttccccccGacaagggtaagaagtcacat	8	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:70176286G>A	uc002eyf.1	+	12	2422	c.1465G>A	c.(1465-1467)GAC>AAC	p.D489N	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.D389N|PDPR_uc002eyg.1_Missense_Mutation_p.D217N	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	489					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGTTCCCCCCGACAAGGGTAA	0.428													A	70176286	G	A	70176286	3	1	250	1	0	0	0	0	1	0	0	0	11689	1058	37	1	1503	1	PDPR	16	70176286	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	300304	70176286	20178467	1131	125059											
VAC14	55697	broad.mit.edu	37	chr16	70806020	70806020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagccacttacctggctgcAgtgaagacactgatgccgct	10	13	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:70806020A>G	uc002ezm.2	-	10	1410	c.1152T>C	c.(1150-1152)ACT>ACC	p.T384T	VAC14_uc010cfw.2_Silent_p.T150T|VAC14_uc002ezn.2_Intron|uc002ezp.1_3'UTR|uc002ezq.2_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	384					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				ACCTGGCTGCAGTGAAGACAC	0.542													G	70806020	A	G	70806020	2	3	250	1	0	0	0	0	0	0	0	1	17108	175	7	3		3	VAC14	16	70806020	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	629734	70806020	19548733	1132	125060											
DHX38	9785	broad.mit.edu	37	chr16	72130798	72130799	+	Frame_Shift_Del	DEL	AG	AG	-													gttttgggaacgcagtcggcAgagagagcgggagcggcggg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:72130797_72130798CAG>C	uc002fcb.3	+	2	755_756	c.400_401CAG>C	c.(400-402)cagfs	p.Q134fs	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	134					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)				ACGCAGTCGGCAGAGAGAGCGG	0.545													-	72130799	AG	-	72130798	7	5	250	1	0	1	0	1	0	0	0	0	4511	188	7	0	407	0	DHX38	16	72130798	Frame_Shift_Del	DEL	AG	TCGA-HF-7132-01A-11D-2053-08	1324778	72130798	18223955	1133	125061											
ZFHX3	463	broad.mit.edu	37	chr16	72845607	72845607	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggttgcaccgagtgctGcgtcatggcatgcacccgga	14	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:72845607G>A	uc002fck.2	-	7	4406	c.3733C>T	c.(3733-3735)CAG>TAG	p.Q1245*	ZFHX3_uc002fcl.2_Nonsense_Mutation_p.Q331*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1245	C2H2-type 10; atypical.				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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ACCGAGTGCTGCGTCATGGCA	0.587													A	72845607	G	A	72845607	4	1	250	1	0	0	0	0	0	1	0	0	17631	1328	46	2	7394	2	ZFHX3	16	72845607	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	714809	72845607	17509146	1134	125062											
ZFHX3	463	broad.mit.edu	37	chr16	72993115	72993115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattttccgctcgtcttcGctcagggtcattcgatggtc	10	11	3	1	rs35466869	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:72993115G>A	uc002fck.2	-	2	1603	c.930C>T	c.(928-930)AGC>AGT	p.S310S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	310					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCTCGTCTTCGCTCAGGGTCA	0.483													A	72993115	G	A	72993115	2	1	250	1	0	0	0	0	0	0	0	1	17631	1078	38	1		1	ZFHX3	16	72993115	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	147508	72993115	17361638	1135	125063											
MLYCD	23417	broad.mit.edu	37	chr16	83945904	83945904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttattccatcagcttgAcccagcagggactccaaggg	9	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:83945904A>G	uc002fgz.2	+	4	900	c.880A>G	c.(880-882)ACC>GCC	p.T294A		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	294					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						CATCAGCTTGACCCAGCAGGG	0.517													G	83945904	A	G	83945904	3	3	250	1	0	0	0	0	1	0	0	0	9638	275	10	3	894	3	MLYCD	16	83945904	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	10952789	83945904	6408849	1136	125064											
TAF1C	9013	broad.mit.edu	37	chr16	84216854	84216854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgggccactcacccccGctccctccagcttgaaattc	7	19	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:84216854G>A	uc002fhn.2	-	5	632	c.404C>T	c.(403-405)GCG>GTG	p.A135V	TAF1C_uc002fhm.2_Missense_Mutation_p.A68V|TAF1C_uc010vnx.1_Missense_Mutation_p.A135V|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.A135V	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	135					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			ovary(1)	1						ACTCACCCCCGCTCCCTCCAG	0.607													A	84216854	G	A	84216854	3	1	250	1	0	0	0	0	1	0	0	0	15518	1087	38	1	2245	1	TAF1C	16	84216854	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	270950	84216854	6137899	1137	125065											
ADAD2	161931	broad.mit.edu	37	chr16	84229828	84229828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcctgccacctccctacGtccggaccgccctgcacctg	8	21	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:84229828G>A	uc002fhr.2	+	8	1492	c.1378G>A	c.(1378-1380)GTC>ATC	p.V460I	ADAD2_uc002fhq.2_Missense_Mutation_p.V542I|uc002fhs.1_Intron	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	460	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						ACCTCCCTACGTCCGGACCGC	0.692													A	84229828	G	A	84229828	3	1	250	1	0	0	0	0	1	0	0	0	232	1145	40	1	1658	1	ADAD2	16	84229828	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	12974	84229828	6124925	1138	125066											
ZDHHC7	55625	broad.mit.edu	37	chr16	85015579	85015579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgtattctttcgtagCgtttcctttgggtactgccc	8	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:85015579C>T	uc002fiq.2	-	4	690	c.337G>A	c.(337-339)GCT>ACT	p.A113T	ZDHHC7_uc010voi.1_Missense_Mutation_p.A150T|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	113						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						TCTTTCGTAGCGTTTCCTTTG	0.423													T	85015579	C	T	85015579	3	4	250	1	0	0	0	0	1	0	0	0	17617	768	27	1	609	1	ZDHHC7	16	85015579	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	785751	85015579	5339174	1139	125067											
CDH15	1013	broad.mit.edu	37	chr16	89251636	89251636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaccccgagacggacaaCgcagcgctgcggttctccat	12	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr16:89251636C>T	uc002fmt.2	+	5	635	c.558C>T	c.(556-558)AAC>AAT	p.N186N	CDH15_uc010cij.1_Silent_p.N186N	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	186	Cadherin 2.|Extracellular (Potential).				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			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGACGGACAACGCAGCGCTGC	0.657													T	89251636	C	T	89251636	2	4	250	1	0	0	0	0	0	0	0	1	3100	535	19	1		1	CDH15	16	89251636	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4236057	89251636	1103117	1140	125068											
MYO1C	4641	broad.mit.edu	37	chr17	1386275	1386275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggtcttgcctgccccGctctccccagagatcatcac	8	19	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:1386275G>A	uc002fsp.2	-	4	646	c.426C>T	c.(424-426)AGC>AGT	p.S142S	MYO1C_uc002fsn.2_Silent_p.S123S|MYO1C_uc002fso.2_Silent_p.S107S|MYO1C_uc010vqj.1_Silent_p.S107S|MYO1C_uc010vqk.1_Silent_p.S118S	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	142	Myosin head-like.|ATP (Potential).				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				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCTGCCCCGCTCTCCCCAG	0.687													A	1386275	G	A	1386275	2	1	250	1	0	0	0	0	0	0	0	1	10070	1078	38	1		1	MYO1C	17	1386275	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08		1386275	79808935	1141	125069											
PRPF8	10594	broad.mit.edu	37	chr17	1579927	1579927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttctcggttgtagtgggCagtgttggtccaccagtcag	14	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:1579927C>T	uc002fte.2	-	16	2374	c.2260G>A	c.(2260-2262)GCC>ACC	p.A754T		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	754						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTAGTGGGCAGTGTTGGTC	0.542													T	1579927	C	T	1579927	3	4	250	1	0	0	0	0	1	0	0	0	12575	710	25	2	4859	2	PRPF8	17	1579927	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	193652	1579927	79615283	1142	125070											
SGSM2	9905	broad.mit.edu	37	chr17	2267458	2267458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatgaatgggactctggggGactccgagctggaaaagagg	16	7	2	2	rs61733094		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:2267458G>T	uc002fun.3	+	8	1088	c.913G>T	c.(913-915)GAC>TAC	p.D305Y	SGSM2_uc002fum.3_Missense_Mutation_p.D305Y|SGSM2_uc010vqw.1_Missense_Mutation_p.D305Y|SGSM2_uc002fuo.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	305						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GACTCTGGGGGACTCCGAGCT	0.612													T	2267458	G	T	2267458	3	4	250	1	0	0	0	0	1	0	0	0	14223	1174	41	5	943	5	SGSM2	17	2267458	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	687531	2267458	78927752	1143	125071											
MYBBP1A	10514	broad.mit.edu	37	chr17	4451584	4451584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtgcctgcttgaactgCgtgctgagggtctgcaacag	14	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:4451584C>T	uc002fyb.3	-	12	1640	c.1578G>A	c.(1576-1578)ACG>ACA	p.T526T	MYBBP1A_uc002fxz.3_Silent_p.T526T	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	526	Interaction with MYB (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			ovary(1)|skin(1)	2						GCTTGAACTGCGTGCTGAGGG	0.637													T	4451584	C	T	4451584	2	4	250	1	0	0	0	0	0	0	0	1	10008	755	27	1		1	MYBBP1A	17	4451584	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2184126	4451584	76743626	1144	125072											
NLRP1	22861	broad.mit.edu	37	chr17	5463094	5463094	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctcaattaaatgtcctcGattctcctccacataatcag	4	12	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:5463094G>A	uc002gci.2	-	4	1477	c.922C>T	c.(922-924)CGA>TGA	p.R308*	NLRP1_uc002gcg.1_Nonsense_Mutation_p.R308*|NLRP1_uc002gck.2_Nonsense_Mutation_p.R308*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.R308*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.R308*|NLRP1_uc002gch.3_Nonsense_Mutation_p.R308*|NLRP1_uc010clh.2_Nonsense_Mutation_p.R308*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	308					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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AAATGTCCTCGATTCTCCTCC	0.488													A	5463094	G	A	5463094	4	1	250	1	0	0	0	0	0	1	0	0	10471	1066	37	1	3630	1	NLRP1	17	5463094	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1011510	5463094	75732116	1145	125073											
PITPNM3	83394	broad.mit.edu	37	chr17	6367630	6367630	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gatggctctgccattactagGatgtccacctgcggcagtga	12	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:6367630G>C	uc002gdd.3	-	16	2167	c.2016C>G	c.(2014-2016)ATC>ATG	p.I672M	PITPNM3_uc010cln.2_Missense_Mutation_p.I636M|PITPNM3_uc010clm.2_Missense_Mutation_p.I155M|PITPNM3_uc002gdc.3_Missense_Mutation_p.I263M	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	672					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCATTACTAGGATGTCCACCT	0.637													C	6367630	G	C	6367630	3	2	250	1	0	0	0	0	1	0	0	0	11952	1164	41	5	928	5	PITPNM3	17	6367630	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	904536	6367630	74827580	1146	125074											
KIAA0753	9851	broad.mit.edu	37	chr17	6511778	6511778	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagttttcacctttagccaTgcagcactgaaataaatgga	7	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:6511778T>C	uc002gde.3	-	10	2078	c.1719A>G	c.(1717-1719)GCA>GCG	p.A573A	KIAA0753_uc010vtd.1_Silent_p.A29A|KIAA0753_uc010clo.2_Silent_p.A274A|KIAA0753_uc010vte.1_Silent_p.A274A	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	573						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		CCTTTAGCCATGCAGCACTGA	0.463													C	6511778	T	C	6511778	2	2	250	1	0	0	0	0	0	0	0	1	8191	1451	51	3		3	KIAA0753	17	6511778	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	144148	6511778	74683432	1147	125075											
BCL6B	255877	broad.mit.edu	37	chr17	6927843	6927843	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccacctactgaatctcgAagctgcagtcaaggcccccc	8	17	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:6927843A>G	uc002geg.2	+	4	582	c.525A>G	c.(523-525)CGA>CGG	p.R175R	BCL6B_uc010clt.1_Silent_p.R175R	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	175	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						CTGAATCTCGAAGCTGCAGTC	0.617													G	6927843	A	G	6927843	2	3	250	1	0	0	0	0	0	0	0	1	1377	233	9	3		3	BCL6B	17	6927843	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	416065	6927843	74267367	1148	125076											
ASGR1	432	broad.mit.edu	37	chr17	7077301	7077301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcccgtctcgtagtccGtcccgtccacccacttccag	8	18	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7077301G>A	uc002ges.3	-	8	1090	c.680C>T	c.(679-681)ACG>ATG	p.T227M	ASGR1_uc010clx.1_Missense_Mutation_p.T126M	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	227	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						CTCGTAGTCCGTCCCGTCCAC	0.657													A	7077301	G	A	7077301	3	1	250	1	0	0	0	0	1	0	0	0	1039	1145	40	1	203	1	ASGR1	17	7077301	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	149458	7077301	74117909	1149	125077											
ZBTB4	57659	broad.mit.edu	37	chr17	7369702	7369702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgctgtagatgaagttgAggacatcagaaaacgcagct	14	7	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7369702A>G	uc002ghc.3	-	3	669	c.419T>C	c.(418-420)CTC>CCC	p.L140P	ZBTB4_uc002ghd.3_Missense_Mutation_p.L140P	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	140	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GATGAAGTTGAGGACATCAGA	0.602													G	7369702	A	G	7369702	3	3	250	1	0	0	0	0	1	0	0	0	17538	304	11	3	2630	3	ZBTB4	17	7369702	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	292401	7369702	73825508	1150	125078											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	19	3	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CAGGGGAGTACTGTAGGAAGA	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578555	C	T	7578555	5	4	250	1	0	0	0	0	0	0	1	0	16378	579	20	4	923	4	TP53	17	7578555	Splice_Site	SNP	C	TCGA-HF-7132-01A-11D-2053-08	208853	7578555	73616655	1151	125079											
CHD3	1107	broad.mit.edu	37	chr17	7805989	7805989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggctacaagtatgagcGcatcgatggtggtatcacgg	14	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7805989G>A	uc002gje.2	+	21	3464	c.3314G>A	c.(3313-3315)CGC>CAC	p.R1105H	CHD3_uc002gjd.2_Missense_Mutation_p.R1164H|CHD3_uc002gjf.2_Missense_Mutation_p.R1105H|CHD3_uc002gjh.2_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1105	Helicase C-terminal.				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(1)	1		Prostate(122;0.202)				AAGTATGAGCGCATCGATGGT	0.507													A	7805989	G	A	7805989	3	1	250	1	0	0	0	0	1	0	0	0	3326	1087	38	1	3677	1	CHD3	17	7805989	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	227434	7805989	73389221	1152	125080											
ALOX12B	242	broad.mit.edu	37	chr17	7978994	7978994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatcaccctccacggctgCgtcactcgggtaataatagg	11	13	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:7978994C>T	uc002gjy.1	-	12	1834	c.1573G>A	c.(1573-1575)GCA>ACA	p.A525T		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	525	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						TCCACGGCTGCGTCACTCGGG	0.577										Multiple Myeloma(8;0.094)			T	7978994	C	T	7978994	3	4	250	1	0	0	0	0	1	0	0	0	537	768	27	1	548	1	ALOX12B	17	7978994	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	173005	7978994	73216216	1153	125081											
SLC25A35	399512	broad.mit.edu	37	chr17	8192959	8192959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgggttcccaggagaatcGggctgggagggacagaacag	17	8	0	2	rs145334128		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:8192959G>T	uc002gku.1	-	6	908	c.863C>A	c.(862-864)CCG>CAG	p.P288Q	SLC25A35_uc002gkt.2_Missense_Mutation_p.P288Q|RANGRF_uc002gkv.2_Intron|RANGRF_uc002gkw.2_Intron|RANGRF_uc002gky.2_3'UTR|RANGRF_uc002gkx.2_3'UTR|SLC25A35_uc002gkz.1_RNA	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	Error:Variant_position_missing_in_Q3KQZ1_after_alignment					transport	integral to membrane|mitochondrial inner membrane					0						CAGGAGAATCGGGCTGGGAGG	0.587													T	8192959	G	T	8192959	3	4	250	1	0	0	0	0	1	0	0	0	14499	1116	39	5	28	5	SLC25A35	17	8192959	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	213965	8192959	73002251	1154	125082											
GAS7	8522	broad.mit.edu	37	chr17	9837547	9837547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcacctgggcccacGcctctcccaaggagctgcaa	8	17	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:9837547G>A	uc002gmg.1	-	9	982	c.821C>T	c.(820-822)GCG>GTG	p.A274V	GAS7_uc010vvc.1_Missense_Mutation_p.A88V|GAS7_uc002gmh.1_Missense_Mutation_p.A134V|GAS7_uc010vvd.1_Missense_Mutation_p.A226V|GAS7_uc002gmi.2_Missense_Mutation_p.A210V|GAS7_uc002gmj.1_Missense_Mutation_p.A214V|GAS7_uc010coh.1_Missense_Mutation_p.A214V	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	274	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						CTGGGCCCACGCCTCTCCCAA	0.597			T	MLL	AML*								A	9837547	G	A	9837547	3	1	250	1	0	0	0	0	1	0	0	0	6250	1087	38	1	633	1	GAS7	17	9837547	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1644588	9837547	71357663	1155	125083											
MYH13	8735	broad.mit.edu	37	chr17	10209901	10209901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccgctccaggtgggCgctggtgtcctgttccttct	11	14	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:10209901C>T	uc002gmk.1	-	37	5431	c.5341G>A	c.(5341-5343)GCC>ACC	p.A1781T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1781	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TCCAGGTGGGCGCTGGTGTCC	0.582													T	10209901	C	T	10209901	3	4	250	1	0	0	0	0	1	0	0	0	10032	768	27	1	495	1	MYH13	17	10209901	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	372354	10209901	70985309	1156	125084											
MYH3	4621	broad.mit.edu	37	chr17	10558338	10558338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctgacttccggaggaaaGgagcagctatgccgaacact	11	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:10558338G>T	uc002gmq.1	-	2	121	c.44C>A	c.(43-45)CCT>CAT	p.P15H		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	15	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCGGAGGAAAGGAGCAGCTAT	0.542													T	10558338	G	T	10558338	3	4	250	1	0	0	0	0	1	0	0	0	10036	1000	35	5	5934	5	MYH3	17	10558338	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	348437	10558338	70636872	1157	125085											
MAP2K4	6416	broad.mit.edu	37	chr17	11998923	11998923	+	Frame_Shift_Del	DEL	A	A	-													aacagtggatgaaaaagaacAaaaacaacttcttatggatt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:11998922_11998922CA>C	uc002gnj.3	+	3	493	c.424_424CA>C	c.(424-426)caafs	p.Q142fs	MAP2K4_uc002gnk.3_Frame_Shift_Del_p.Q153fs|MAP2K4_uc010vvi.2_Frame_Shift_Del_p.Q24fs|MAP2K4_uc010vvj.2_Frame_Shift_Del_p.Q14fs	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	142	Protein kinase.		Q -> L (in a lung squamous cell carcinoma sample; somatic mutation).		JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|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.Q142L(1)|p.?(1)|p.E141K(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)		TGAAAAAGAACAAAAACAACT	0.333			"D, Mis, N"		"pancreatic, breast, colorectal"								-	11998923	A	-	11998923	7	5	250	1	0	1	0	1	0	0	0	0	9239	130	5	0	439	0	MAP2K4	17	11998923	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	1440585	11998923	69196287	1158	125086											
TEKT3	64518	broad.mit.edu	37	chr17	15217458	15217458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacaccgtctgatgtgttgCgcaggtggtggcatttgtcg	15	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:15217458C>T	uc002gon.2	-	6	1011	c.824G>A	c.(823-825)CGC>CAC	p.R275H		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	275					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGATGTGTTGCGCAGGTGGTG	0.547													T	15217458	C	T	15217458	3	4	250	1	0	0	0	0	1	0	0	0	15751	768	27	1	664	1	TEKT3	17	15217458	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3218535	15217458	65977752	1159	125087											
NCOR1	9611	broad.mit.edu	37	chr17	16001755	16001755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttttaacggagatgagaCgagtatagatccagtggggt	15	4	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:16001755C>T	uc002gpo.2	-	21	2986	c.2746G>A	c.(2746-2748)GTC>ATC	p.V916I	NCOR1_uc002gpn.2_Missense_Mutation_p.V932I|NCOR1_uc002gpp.1_Missense_Mutation_p.V823I|NCOR1_uc002gpr.2_Missense_Mutation_p.V823I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	916					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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGATGAGACGAGTATAGAT	0.378													T	16001755	C	T	16001755	3	4	250	1	0	0	0	0	1	0	0	0	10235	536	19	1	4680	1	NCOR1	17	16001755	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	784297	16001755	65193455	1160	125088											
RAI1	10743	broad.mit.edu	37	chr17	17698232	17698232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactctgtggccaagagtgCgtggccccggcctggggagc	18	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:17698232C>T	uc002grm.2	+	3	2439	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V	RAI1_uc002grn.1_Missense_Mutation_p.A657V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	657						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCCAAGAGTGCGTGGCCCCGG	0.647													T	17698232	C	T	17698232	3	4	250	1	0	0	0	0	1	0	0	0	13007	768	27	1	1972	1	RAI1	17	17698232	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1696477	17698232	63496978	1161	125089											
SREBF1	6720	broad.mit.edu	37	chr17	17716744	17716744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggagctggtgtgtccgtGtggggctggcccccgccatc	17	13	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:17716744G>A	uc002gru.1	-	18	3346	c.3152C>T	c.(3151-3153)ACA>ATA	p.T1051I	SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.T670I|SREBF1_uc002grq.1_Missense_Mutation_p.T570I|SREBF1_uc002grr.1_Missense_Mutation_p.T797I|SREBF1_uc002grs.1_Missense_Mutation_p.T1027I|SREBF1_uc002grt.1_Missense_Mutation_p.T1081I	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	1051	Cytoplasmic (Potential).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GTGTGTCCGTGTGGGGCTGGC	0.692													A	17716744	G	A	17716744	3	1	250	1	0	0	0	0	1	0	0	0	15140	1377	48	4	299	4	SREBF1	17	17716744	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	18512	17716744	63478466	1162	125090											
SREBF1	6720	broad.mit.edu	37	chr17	17722433	17722433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgcgcttctctccaCggctctgggcagaggccggg	17	13	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:17722433C>T	uc002gru.1	-	5	1156	c.962G>A	c.(961-963)CGT>CAT	p.R321H	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_Translation_Start_Site|SREBF1_uc002grr.1_Missense_Mutation_p.R67H|SREBF1_uc002grs.1_Missense_Mutation_p.R297H|SREBF1_uc002grt.1_Missense_Mutation_p.R351H|SREBF1_uc010cpp.1_Missense_Mutation_p.R297H|SREBF1_uc010cpq.1_Missense_Mutation_p.R321H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	321	Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CTTCTCTCCACGGCTCTGGGC	0.592													T	17722433	C	T	17722433	3	4	250	1	0	0	0	0	1	0	0	0	15140	536	19	1	2541	1	SREBF1	17	17722433	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5689	17722433	63472777	1163	125091											
DRG2	1819	broad.mit.edu	37	chr17	18009790	18009790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagccagttcaagtacgCcctggtgtgggtgagtctct	13	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:18009790C>T	uc002gsh.1	+	12	1053	c.998C>T	c.(997-999)GCC>GTC	p.A333V	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Intron|MYO15A_uc010vxh.1_5'Flank	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	333					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					TTCAAGTACGCCCTGGTGTGG	0.597													T	18009790	C	T	18009790	3	4	250	1	0	0	0	0	1	0	0	0	4762	739	26	2	1044	2	DRG2	17	18009790	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	287357	18009790	63185420	1164	125092											
LLGL1	3996	broad.mit.edu	37	chr17	18141431	18141431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggagggtccgctctcccGggtgaagtctctcaagaagt	13	11	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:18141431G>A	uc002gsp.2	+	15	2016	c.1955G>A	c.(1954-1956)CGG>CAG	p.R652Q		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	652	WD 10.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CCGCTCTCCCGGGTGAAGTCT	0.607													A	18141431	G	A	18141431	3	1	250	1	0	0	0	0	1	0	0	0	8833	1116	39	1	2013	1	LLGL1	17	18141431	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	131641	18141431	63053779	1165	125093											
CYTSB	92521	broad.mit.edu	37	chr17	20135630	20135631	+	Missense_Mutation	DNP	GA	GA	CT													ccgtgaagaggaaactgctgGaggaggaggagaagaatgcc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:20135630_20135631GA>CT	uc002gwq.2	+	7	2408_2409	c.2263_2264GA>CT	c.(2263-2265)GAG>CTG	p.E755L	CYTSB_uc010cqx.2_Missense_Mutation_p.E755L|CYTSB_uc002gwr.2_Missense_Mutation_p.E755L|CYTSB_uc002gws.2_Missense_Mutation_p.E755L|CYTSB_uc002gwv.2_Missense_Mutation_p.E674L|CYTSB_uc010vzf.1_Missense_Mutation_p.E95L|CYTSB_uc002gww.2_Missense_Mutation_p.E531L|CYTSB_uc002gwt.2_Missense_Mutation_p.E674L|CYTSB_uc002gwu.2_Missense_Mutation_p.E674L	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	755	Potential.					nucleus					0						GAAACTGCTGGAGGAGGAGGAG	0.644													CT	20135631	GA	CT	20135630	3	2	250	1	0	0	0	0	1	0	0	0	4210	1175	41	5	2329	5	CYTSB	17	20135630	Missense_Mutation	DNP	GA	TCGA-HF-7132-01A-11D-2053-08	1994199	20135630	61059580	1166	125094											
LGALS9B	284194	broad.mit.edu	37	chr17	20361569	20361569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggcatgtgcatcttcCtctcctcgggcccccatctt	10	15	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:20361569C>A	uc002gxa.1	-	3	325	c.260G>T	c.(259-261)AGG>ATG	p.R87M	LGALS9B_uc002gwz.1_Missense_Mutation_p.R87M|LGALS9B_uc010vzh.1_Translation_Start_Site	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	87	Beta-galactoside binding 1 (By similarity).|Galectin 1.						sugar binding			skin(1)	1						GTGCATCTTCCTCTCCTCGGG	0.552													A	20361569	C	A	20361569	3	1	250	1	0	0	0	0	1	0	0	0	8749	681	24	5	843	5	LGALS9B	17	20361569	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	225939	20361569	60833641	1167	125095											
KCNJ12	3768	broad.mit.edu	37	chr17	21319255	21319255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttcagccacaacgccGtggtggccctgcgtgacggc	14	14	1	1	rs147680561		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:21319255G>A	uc002gyv.1	+	3	1306	c.601G>A	c.(601-603)GTG>ATG	p.V201M		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	201	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CCACAACGCCGTGGTGGCCCT	0.612										Prostate(3;0.18)			A	21319255	G	A	21319255	3	1	250	1	0	0	0	0	1	0	0	0	8046	1145	40	1	603	1	KCNJ12	17	21319255	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	957686	21319255	59875955	1168	125096											
ALDOC	230	broad.mit.edu	37	chr17	26902486	26902486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcccggggctacaatcCgcagggcaatgtcagacaac	11	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:26902486C>T	uc002hbp.2	-	2	210	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	ALDOC_uc010cro.2_Missense_Mutation_p.R22Q	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	22					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GGCTACAATCCGCAGGGCAAT	0.557											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26902486	C	T	26902486	3	4	250	1	0	0	0	0	1	0	0	0	509	652	23	1	1061	1	ALDOC	17	26902486	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5583231	26902486	54292724	1169	125097											
TLCD1	116238	broad.mit.edu	37	chr17	27051593	27051593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggcagaagtcagagcGgaggaggcgggaaaagtaga	18	6	2	3	rs148558266		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:27051593G>T	uc002hco.2	-	4	794	c.679C>A	c.(679-681)CGC>AGC	p.R227S	TLCD1_uc010waw.1_Missense_Mutation_p.R180S	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	227	TLC.					integral to membrane					0	Lung NSC(42;0.00431)					AAGTCAGAGCGGAGGAGGCGG	0.527													T	27051593	G	T	27051593	3	4	250	1	0	0	0	0	1	0	0	0	15934	1116	39	5	68	5	TLCD1	17	27051593	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	149107	27051593	54143617	1170	125098											
TLCD1	116238	broad.mit.edu	37	chr17	27051685	27051685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctctggttcacataaCgcaagaagaaatgggtgagg	14	7	2	3	rs141253957		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:27051685C>T	uc002hco.2	-	4	702	c.587G>A	c.(586-588)CGT>CAT	p.R196H	TLCD1_uc010waw.1_Missense_Mutation_p.R149H	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	196	TLC.					integral to membrane					0	Lung NSC(42;0.00431)					GTTCACATAACGCAAGAAGAA	0.532													T	27051685	C	T	27051685	3	4	250	1	0	0	0	0	1	0	0	0	15934	536	19	1	160	1	TLCD1	17	27051685	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	92	27051685	54143525	1171	125099											
NUFIP2	57532	broad.mit.edu	37	chr17	27614342	27614342	+	Frame_Shift_Del	DEL	T	T	-													actattgcgcctagctttccTttttttaggagttgtatatc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:27614341_27614341CT>C	uc002hdy.4	-	1	760	c.671_671AG>G	c.(670-672)aggfs	p.R224fs	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	224						nucleus|polysomal ribosome	RNA binding|protein binding			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)			CCTAGCTTTCCTTTTTTTAGG	0.383													-	27614342	T	-	27614342	7	5	250	1	0	1	0	1	0	0	0	0	10749	1608	56	0	1429	0	NUFIP2	17	27614342	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	562657	27614342	53580868	1172	125100											
SLC6A4	6532	broad.mit.edu	37	chr17	28538348	28538348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtgctgtccaagcccagCgtgattaacatcagaaagaa	9	11	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:28538348C>T	uc002hey.3	-	10	1843	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	433	Helical; Name=8; (Potential).				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			skin(3)|ovary(1)	4					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)	CCAAGCCCAGCGTGATTAACA	0.527													T	28538348	C	T	28538348	2	4	250	1	0	0	0	0	0	0	0	1	14686	755	27	1		1	SLC6A4	17	28538348	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	924006	28538348	52656862	1173	125101											
MYO1D	4642	broad.mit.edu	37	chr17	31048134	31048134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatattctacttggtgcCggcagcgttcatcatcaaat	8	10	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:31048134C>T	uc002hho.1	-	15	1832	c.1820G>A	c.(1819-1821)CGG>CAG	p.R607Q	MYO1D_uc002hhp.1_Missense_Mutation_p.R607Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	607	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TACTTGGTGCCGGCAGCGTTC	0.428													T	31048134	C	T	31048134	3	4	250	1	0	0	0	0	1	0	0	0	10071	652	23	1	1232	1	MYO1D	17	31048134	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2509786	31048134	50147076	1174	125102											
SLFN5	162394	broad.mit.edu	37	chr17	33588113	33588113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagaaacgctactttcCaggtaattggccatctctgg	10	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:33588113C>T	uc002hjf.3	+	3	1253	c.1136C>T	c.(1135-1137)CCA>CTA	p.P379L	SLFN5_uc010wcg.1_Missense_Mutation_p.P379L	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	379					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CGCTACTTTCCAGGTAATTGG	0.338													T	33588113	C	T	33588113	3	4	250	1	0	0	0	0	1	0	0	0	14737	594	21	4	1142	4	SLFN5	17	33588113	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2539979	33588113	47607097	1175	125103											
PEX12	5193	broad.mit.edu	37	chr17	33905039	33905040	+	Frame_Shift_Del	DEL	AT	AT	-													agtgagccccgtgctcagccAtagtttcctgcgtgtactgg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:33905038_33905039CAT>C	uc002hjp.3	-	0	618_619	c.2_3ATG>G	c.(1-3)atgfs	p.M1fs		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	1					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)		CGTGCTCAGCCATAGTTTCCTG	0.5													-	33905040	AT	-	33905039	7	5	250	1	0	1	0	1	0	0	0	0	11740	217	8	0	1089	0	PEX12	17	33905039	Frame_Shift_Del	DEL	AT	TCGA-HF-7132-01A-11D-2053-08	316926	33905039	47290171	1176	125104											
ACACA	31	broad.mit.edu	37	chr17	35615203	35615203	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaggaacgtgtgcagaAtcttcaaaatcaatgggaga	12	6	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:35615203A>C	uc002hnm.2	-	13	1673	c.1482T>G	c.(1480-1482)GAT>GAG	p.D494E	ACACA_uc002hnk.2_Missense_Mutation_p.D416E|ACACA_uc002hnl.2_Missense_Mutation_p.D436E|ACACA_uc002hnn.2_Missense_Mutation_p.D494E|ACACA_uc002hno.2_Missense_Mutation_p.D531E|ACACA_uc010cuz.2_Missense_Mutation_p.D494E	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	494	Biotin carboxylation.			D -> N (in Ref. 1; AAC50139).	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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CGTGTGCAGAATCTTCAAAAT	0.443													C	35615203	A	C	35615203	3	2	250	1	0	0	0	0	1	0	0	0	106	98	4	5	5734	5	ACACA	17	35615203	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1710164	35615203	45580007	1177	125105											
PNMT	5409	broad.mit.edu	37	chr17	37826226	37826226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgctggcaggataaggagCgccagctgcgagccagggtg	17	9	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:37826226C>T	uc002hsi.1	+	3	655	c.433C>T	c.(433-435)CGC>TGC	p.R145C		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	145					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|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;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGATAAGGAGCGCCAGCTGCG	0.662													T	37826226	C	T	37826226	3	4	250	1	0	0	0	0	1	0	0	0	12159	768	27	1	443	1	PNMT	17	37826226	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2211023	37826226	43368984	1178	125106											
ERBB2	2064	broad.mit.edu	37	chr17	37883212	37883212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagaccctgccccgggcGctgggggcatggtccaccac	14	17	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:37883212G>A	uc002hso.2	+	25	3353	c.3115G>A	c.(3115-3117)GCT>ACT	p.A1039T	ERBB2_uc002hsm.2_Missense_Mutation_p.A1009T|ERBB2_uc010cwa.2_Missense_Mutation_p.A1024T|ERBB2_uc002hsp.2_Missense_Mutation_p.A842T|ERBB2_uc010cwb.2_Missense_Mutation_p.A1039T|ERBB2_uc010wek.1_Missense_Mutation_p.A763T	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1039	Cytoplasmic (Potential).				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			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	TGCCCCGGGCGCTGGGGGCAT	0.647		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			A	37883212	G	A	37883212	3	1	250	1	0	0	0	0	1	0	0	0	5206	1087	38	1	3213	1	ERBB2	17	37883212	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	56986	37883212	43311998	1179	125107											
MED24	9862	broad.mit.edu	37	chr17	38188962	38188963	+	Frame_Shift_Ins	INS	-	-	C													cctcgggagactcaatgagcINScccacgaagcaagctttcca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38188961_38188962G>GC	uc002hts.3	-	7	1151_1152	c.951_952C>GC	c.(949-954)gggctcfs	p.G317fs	MED24_uc010wes.2_Frame_Shift_Ins_p.G152fs|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Frame_Shift_Ins_p.G292fs|MED24_uc002htu.3_Frame_Shift_Ins_p.G279fs|MED24_uc010cwn.3_Frame_Shift_Ins_p.G279fs|MED24_uc010weu.2_Frame_Shift_Ins_p.G202fs|MED24_uc010wev.1_Frame_Shift_Ins_p.G242fs|MED24_uc010wew.1_Frame_Shift_Ins_p.G221fs|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Frame_Shift_Ins_p.G133fs|MED24_uc010wfa.1_Frame_Shift_Ins_p.G261fs|MED24_uc010wfb.1_Frame_Shift_Ins_p.G304fs	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	292					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.V316I(1)		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)					GACTCAATGAGCCCCACGAAGC	0.574													C	38188963	-	C	38188962	7	5	250	1	0	1	1	0	0	0	0	0	9442	726	26	0	2165	0	MED24	17	38188962	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	305750	38188962	43006248	1180	125108											
MED24	9862	broad.mit.edu	37	chr17	38192383	38192383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataccttactgatggctgTgaggacagaagagtaggaca	12	7	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38192383T>C	uc002htt.2	-	4	551	c.238A>G	c.(238-240)ACA>GCA	p.T80A	MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.T105A|MED24_uc002htu.2_Intron|MED24_uc010cwn.2_Intron|MED24_uc010weu.1_Silent_p.S14S|MED24_uc010wev.1_Missense_Mutation_p.T30A|MED24_uc010wew.1_Missense_Mutation_p.T9A|MED24_uc010wex.1_Silent_p.S14S|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.T30A|MED24_uc010wfb.1_Intron|MED24_uc010wfc.1_Intron	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	80					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			ovary(1)	1	Colorectal(19;0.000442)					CTGATGGCTGTGAGGACAGAA	0.498													C	38192383	T	C	38192383	3	2	250	1	0	0	0	0	1	0	0	0	9442	1696	59	3	2823	3	MED24	17	38192383	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	3421	38192383	43002827	1181	125109											
CASC3	22794	broad.mit.edu	37	chr17	38323817	38323817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtgccagagccccccGcccctccagtgcatatcagt	9	18	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38323817G>A	uc010cwt.1	+	9	1898	c.1603G>A	c.(1603-1605)GCC>ACC	p.A535T	CASC3_uc002hue.2_Missense_Mutation_p.A535T	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	535	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						AGAGCCCCCCGCCCCTCCAGT	0.498													A	38323817	G	A	38323817	3	1	250	1	0	0	0	0	1	0	0	0	2661	1087	38	1	1637	1	CASC3	17	38323817	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	131434	38323817	42871393	1182	125110											
KRT222	125113	broad.mit.edu	37	chr17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-													agcctcttcatctttgtccaTttttttgcttatgtcttctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38818271_38818271AT>A	uc002hvc.2	-	1	187	c.122_122AT>T	c.(121-123)atgfs	p.M41fs	KRT222_uc002hvb.2_Frame_Shift_Del_p.M1fs|KRT222_uc010cxc.3_Frame_Shift_Del_p.M1fs	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	41						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						ATCTTTGTCCATTTTTTTGCT	0.428													-	38818272	T	-	38818272	7	5	250	1	0	1	0	1	0	0	0	0	8459	1493	52	0	786	0	KRT222	17	38818272	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	494455	38818272	42376938	1183	125111											
KRT26	353288	broad.mit.edu	37	chr17	38926516	38926517	+	Frame_Shift_Ins	INS	-	-	T													ttccttacctcctcatgactINSttttttgaggtaggtcaatt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:38926515_38926516C>CT	uc002hvf.3	-	2	716_717	c.670_671G>AG	c.(670-672)agtfs	p.S224fs		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	224	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCCTCATGACTTTTTTTGAGG	0.46													T	38926517	-	T	38926516	7	5	250	1	0	1	1	0	0	0	0	0	8463	1609	56	0	760	0	KRT26	17	38926516	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	108244	38926516	42268694	1184	125112											
KRT39	390792	broad.mit.edu	37	chr17	39122766	39122766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctctcgttctagcattcGcaccttttgcaggtagttag	8	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39122766G>A	uc002hvo.1	-	1	379	c.343C>T	c.(343-345)CGA>TGA	p.R115*	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	115	Coil 1A.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				TCTAGCATTCGCACCTTTTGC	0.448													A	39122766	G	A	39122766	4	1	250	1	0	0	0	0	0	1	0	0	8476	1095	38	1	1160	1	KRT39	17	39122766	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	196250	39122766	42072444	1185	125113											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383096	39383096	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaacacctgctgtaggAccacctgctgccagcccacc	8	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39383096A>C	uc002hwf.2	+	1	197	c.190A>C	c.(190-192)ACC>CCC	p.T64P		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9.2	64	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|7.					keratin filament	protein binding			upper_aerodigestive_tract(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCTGTAGGACCACCTGCTG	0.657													C	39383096	A	C	39383096	3	2	250	1	0	0	0	0	1	0	0	0	8573	275	10	5	192	5	KRTAP9-2	17	39383096	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	260330	39383096	41812114	1186	125114											
KRT34	3885	broad.mit.edu	37	chr17	39535917	39535917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacctggttcaggtccaCagtgggggcagtgtccacct	14	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39535917C>T	uc002hwm.2	-	4	793	c.781G>A	c.(781-783)GTG>ATG	p.V261M		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	261	Rod.|Linker 12.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TTCAGGTCCACAGTGGGGGCA	0.577													T	39535917	C	T	39535917	3	4	250	1	0	0	0	0	1	0	0	0	8471	478	17	4	545	4	KRT34	17	39535917	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	152821	39535917	41659293	1187	125115											
KRT36	8689	broad.mit.edu	37	chr17	39645760	39645760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgcggctctccagctcCgcgttctcccgctccagctg	11	17	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:39645760C>T	uc002hwt.2	-	1	357	c.357G>A	c.(355-357)GCG>GCA	p.A119A		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	119	Rod.|Coil 1A.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TCTCCAGCTCCGCGTTCTCCC	0.567													T	39645760	C	T	39645760	2	4	250	1	0	0	0	0	0	0	0	1	8473	639	23	1		1	KRT36	17	39645760	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	109843	39645760	41549450	1188	125116											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-													accctgcccttcagccccctGggggggtgccatccagcctg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		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)		TTCAGCCCCCTGGGGGGGTGC	0.632													-	40939870	G	-	40939870	7	5	250	1	0	1	0	1	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1294110	40939870	40255340	1189	125117											
ACBD4	79777	broad.mit.edu	37	chr17	43216487	43216487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgcaggaggtgcaggcgaGggtgcagagcctggagagca	19	8	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:43216487G>T	uc002iid.2	+	9	1083	c.739G>T	c.(739-741)GGG>TGG	p.G247W	ACBD4_uc010wjj.1_Missense_Mutation_p.G263W|ACBD4_uc002iie.2_Missense_Mutation_p.G263W|ACBD4_uc002iif.2_Missense_Mutation_p.R250M|ACBD4_uc002iic.2_Missense_Mutation_p.R250M|ACBD4_uc010dae.2_Missense_Mutation_p.G185W	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	247							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						GTGCAGGCGAGGGTGCAGAGC	0.652													T	43216487	G	T	43216487	3	4	250	1	0	0	0	0	1	0	0	0	124	1000	35	5	817	5	ACBD4	17	43216487	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2276617	43216487	37978723	1190	125118											
TBX21	30009	broad.mit.edu	37	chr17	45822254	45822254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgaccttcctggccaggCgaaggatgtggttccccagg	13	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:45822254C>T	uc002ilv.1	+	6	1341	c.1130C>T	c.(1129-1131)GCG>GTG	p.A377V		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	377					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				0						CCTGGCCAGGCGAAGGATGTG	0.597													T	45822254	C	T	45822254	3	4	250	1	0	0	0	0	1	0	0	0	15654	768	27	1	1152	1	TBX21	17	45822254	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2605767	45822254	35372956	1191	125119											
SP6	80320	broad.mit.edu	37	chr17	45925335	45925335	+	Frame_Shift_Del	DEL	C	C	-													gctggtggtctccgacgtagCcccccaagcccgcctgaagc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:45925335delC	uc002img.1	-	2	793	c.461delG	c.(460-462)GGCfs	p.G154fs	SP6_uc002imh.1_Frame_Shift_Del_p.G154fs	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCCGACGTAGCCCCCCAAGCC	0.711													-	45925335	C	-	45925335	7	5	250	1	0	1	0	1	0	0	0	0	14968	739	26	0	673	0	SP6	17	45925335	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	103081	45925335	35269875	1192	125120											
HOXB13	10481	broad.mit.edu	37	chr17	46804268	46804268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctgccgagatcttgcGcctcttgtccttggtgatga	14	10	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:46804268G>A	uc002ioa.2	-	2	895	c.739C>T	c.(739-741)CGC>TGC	p.R247C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	247	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGATCTTGCGCCTCTTGTCC	0.577													A	46804268	G	A	46804268	3	1	250	1	0	0	0	0	1	0	0	0	7300	1087	38	1	119	1	HOXB13	17	46804268	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	878933	46804268	34390942	1193	125121			1	60		3	3	112	N	G_C	1.399953e-05
HOXB13	10481	broad.mit.edu	37	chr17	46804341	46804341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaactgccccttgctgtaCggaatgcgtttcttgcggcc	11	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:46804341C>T	uc002ioa.2	-	2	822	c.666G>A	c.(664-666)CCG>CCA	p.P222P	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	222	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTTGCTGTACGGAATGCGTT	0.627													T	46804341	C	T	46804341	2	4	250	1	0	0	0	0	0	0	0	1	7300	523	19	1		1	HOXB13	17	46804341	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	73	46804341	34390869	1194	125122			1	60		3	3	112	N	G_C	1.399953e-05
HOXB13	10481	broad.mit.edu	37	chr17	46804379	46804379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgacgaaaggcgcaggCgtcaggagggtgctgcccgc	18	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:46804379C>T	uc002ioa.2	-	2	784	c.628G>A	c.(628-630)GCC>ACC	p.A210T	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	210					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGGCGCAGGCGTCAGGAGGG	0.622													T	46804379	C	T	46804379	3	4	250	1	0	0	0	0	1	0	0	0	7300	768	27	1	230	1	HOXB13	17	46804379	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	38	46804379	34390831	1195	125123			1	60		3	3	112	N	G_C	1.399953e-05
DLX3	1747	broad.mit.edu	37	chr17	48072046	48072046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccctcacctgggtccTgggctggcagcggctgctcc	15	16	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:48072046T>C	uc002ipy.2	-	1	543	c.317A>G	c.(316-318)CAG>CGG	p.Q106R		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACCTGGGTCCTGGGCTGGCAG	0.622													C	48072046	T	C	48072046	3	2	250	1	0	0	0	0	1	0	0	0	4572	1580	55	3	558	3	DLX3	17	48072046	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1267667	48072046	33123164	1196	125124											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433968	+	Frame_Shift_Del	DEL	CC	CC	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:48433966_48433967ACC>A	uc002iqo.3	+	7	1686_1687	c.1577_1578ACC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGCA	0.604													-	48433968	CC	-	48433967	7	5	250	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	CC	TCGA-HF-7132-01A-11D-2053-08	361921	48433967	32761243	1197	125125											
CACNA1G	8913	broad.mit.edu	37	chr17	48703700	48703700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagcccccatccccacGggacctgaagaagtgctaca	12	14	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:48703700G>A	uc002irk.1	+	38	7094	c.6722G>A	c.(6721-6723)CGG>CAG	p.R2241Q	CACNA1G_uc002irj.1_Missense_Mutation_p.R2035Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R2125Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R2162Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R2107Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R2114Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R2196Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R2218Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R2148Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R2185Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R2130Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R2137Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R2170Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R2207Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1982Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1971Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R2054Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R2027Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R2068Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R2143Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R2036Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R2064Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R2091Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R2009Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R2016Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R2004Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2241	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	CCATCCCCACGGGACCTGAAG	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48703700	G	A	48703700	3	1	250	1	0	0	0	0	1	0	0	0	2544	1116	39	1	7139	1	CACNA1G	17	48703700	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	269733	48703700	32491510	1198	125126											
KIF2B	84643	broad.mit.edu	37	chr17	51901032	51901032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccccgcaagaacatcGcatctgcgtctgcgtgagga	13	13	2	2	rs140988115		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:51901032G>A	uc002iua.2	+	1	794	c.638G>A	c.(637-639)CGC>CAC	p.R213H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	213	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CAAGAACATCGCATCTGCGTC	0.542													A	51901032	G	A	51901032	3	1	250	1	0	0	0	0	1	0	0	0	8298	1087	38	1	640	1	KIF2B	17	51901032	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3197332	51901032	29294178	1199	125127											
TUBD1	51174	broad.mit.edu	37	chr17	57937750	57937750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctaaaaagtcctcttctTcgattccaaattttgtgtac	5	9	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:57937750T>C	uc002ixw.1	-	9	1573	c.1295A>G	c.(1294-1296)GAA>GGA	p.E432G	TUBD1_uc010ddf.1_Missense_Mutation_p.E330G|TUBD1_uc010ddg.1_Missense_Mutation_p.E397G|TUBD1_uc010ddh.1_Missense_Mutation_p.E258G|TUBD1_uc010wok.1_Missense_Mutation_p.E375G|TUBD1_uc002ixx.1_Missense_Mutation_p.E377G|TUBD1_uc010wol.1_Missense_Mutation_p.E216G|TUBD1_uc010ddi.1_Missense_Mutation_p.E178G	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	432					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	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)			GTCCTCTTCTTCGATTCCAAA	0.338													C	57937750	T	C	57937750	3	2	250	1	0	0	0	0	1	0	0	0	16759	1783	62	3	70	3	TUBD1	17	57937750	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	6036718	57937750	23257460	1200	125128											
ACE	1636	broad.mit.edu	37	chr17	61571754	61571754	+	Frame_Shift_Del	DEL	C	C	-													ctgaagtaccagggcctctgCcccccagtgcccaggactca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:61571753_61571753GC>G	uc002jau.2	+	21	3336	c.3302_3302GC>G	c.(3301-3303)tgcfs	p.C1101fs	ACE_uc010wpj.2_Frame_Shift_Del_p.C527fs|ACE_uc010ddv.2_Frame_Shift_Del_p.C328fs|ACE_uc002jav.2_Frame_Shift_Del_p.C527fs|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Frame_Shift_Del_p.C347fs	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1101	Peptidase M2 2.				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)	CAGGGCCTCTGCCCCCCAGTG	0.562													-	61571754	C	-	61571754	7	5	250	1	0	1	0	1	0	0	0	0	136	747	26	0	3592	0	ACE	17	61571754	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	3634004	61571754	19623456	1201	125129											
DCAF7	10238	broad.mit.edu	37	chr17	61657219	61657219	+	Frame_Shift_Del	DEL	G	G	-													tgatacgacatgcaccatctGggggctggagacagggcagg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:61657218_61657218TG>T	uc002jbc.3	+	3	659	c.442_442TG>T	c.(442-444)tggfs	p.W148fs	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	148					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						ATGCACCATCTGGGGGCTGGA	0.537													-	61657219	G	-	61657219	7	5	250	1	0	1	0	1	0	0	0	0	4275	1357	47	0	457	0	DCAF7	17	61657219	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	85465	61657219	19537991	1202	125130											
ERN1	2081	broad.mit.edu	37	chr17	62144207	62144207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaccacaggggaggcGtagttttggatccacaggac	14	10	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:62144207G>A	uc002jdz.2	-	8	779	c.666C>T	c.(664-666)TAC>TAT	p.Y222Y		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	222	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CAGGGGAGGCGTAGTTTTGGA	0.537													A	62144207	G	A	62144207	2	1	250	1	0	0	0	0	0	0	0	1	5237	1140	40	1		1	ERN1	17	62144207	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	486988	62144207	19051003	1203	125131											
TEX2	55852	broad.mit.edu	37	chr17	62272398	62272398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgaacaaagactgaatGtgtcaaagtcgcatggtagg	12	6	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:62272398G>A	uc002jec.2	-	3	1875	c.1702C>T	c.(1702-1704)CAT>TAT	p.H568Y	TEX2_uc002jed.2_Missense_Mutation_p.H568Y|TEX2_uc002jee.2_Missense_Mutation_p.H568Y	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	568					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGACTGAATGTGTCAAAGTC	0.403													A	62272398	G	A	62272398	3	1	250	1	0	0	0	0	1	0	0	0	15778	1377	48	4	1742	4	TEX2	17	62272398	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	128191	62272398	18922812	1204	125132											
AXIN2	8313	broad.mit.edu	37	chr17	63533495	63533495	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggagtggcttttgcatttCgagtagcagtaatactcgct	11	7	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:63533495C>T	uc002jfi.2	-	6	1948	c.1659G>A	c.(1657-1659)TCG>TCA	p.S553S	AXIN2_uc002jfh.2_Silent_p.S553S	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	553					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						TTTTGCATTTCGAGTAGCAGT	0.627									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				T	63533495	C	T	63533495	2	4	250	1	0	0	0	0	0	0	0	1	1237	871	31	1		1	AXIN2	17	63533495	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1261097	63533495	17661715	1205	125133											
CACNG5	27091	broad.mit.edu	37	chr17	64880774	64880774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatctccttccttttaaCggaggtaaagcccgtcaccc	7	16	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:64880774C>T	uc010wqi.1	+	5	803	c.566C>T	c.(565-567)ACG>ATG	p.T189M	CACNG5_uc002jfr.2_Missense_Mutation_p.T189M|CACNG5_uc010wqj.1_Missense_Mutation_p.T189M	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	189	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTCCTTTTAACGGAGGTAAAG	0.552													T	64880774	C	T	64880774	3	4	250	1	0	0	0	0	1	0	0	0	2560	536	19	1	580	1	CACNG5	17	64880774	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1347279	64880774	16314436	1206	125134											
SLC16A6	9120	broad.mit.edu	37	chr17	66270150	66270151	+	Frame_Shift_Ins	INS	-	-	C													tcccggtgctgacaagtagcINSccccccaacatcactaccag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:66270149_66270150G>GC	uc002jha.2	-	3	607_608	c.294_295C>GC	c.(292-297)gggctafs	p.G98fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Ins_p.G98fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	98						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535													C	66270151	-	C	66270150	7	5	250	1	0	1	1	0	0	0	0	0	14412	726	26	0	1293	0	SLC16A6	17	66270150	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1389376	66270150	14925060	1207	125135											
ABCA9	10350	broad.mit.edu	37	chr17	66982324	66982324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtgatggcgatcattgCgtcccctttcctgagacctt	10	13	1	2	rs142295838		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:66982324C>T	uc002jhu.2	-	32	4332	c.4189G>A	c.(4189-4191)GCA>ACA	p.A1397T	ABCA9_uc010dez.2_Missense_Mutation_p.A1359T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1397	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					GCGATCATTGCGTCCCCTTTC	0.567													T	66982324	C	T	66982324	3	4	250	1	0	0	0	0	1	0	0	0	39	768	27	1	717	1	ABCA9	17	66982324	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	712174	66982324	14212886	1208	125136											
ABCA6	23460	broad.mit.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-													ttaccaaagataagccatatAaaaaaaagagtataaatatg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					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)					ATAAGCCATATAAAAAAAAGA	0.303													-	67125767	A	-	67125767	7	5	250	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	143443	67125767	14069443	1209	125137											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72764648	72764648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacaggactccacagcGccctcgtctacctcctcctc	5	20	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72764648G>A	uc002jlo.2	+	6	1153	c.930G>A	c.(928-930)GCG>GCA	p.A310A	SLC9A3R1_uc002jlp.2_Silent_p.A154A	NM_004252	NP_004243	O14745	NHRF1_HUMAN	sodium/hydrogen exchanger regulatory factor 1	310					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association				0						ACTCCACAGCGCCCTCGTCTA	0.592													A	72764648	G	A	72764648	2	1	250	1	0	0	0	0	0	0	0	1	14714	1074	38	1		1	SLC9A3R1	17	72764648	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5638881	72764648	8430562	1210	125138											
TMEM104	54868	broad.mit.edu	37	chr17	72787133	72787133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgtttgaaatcacagacCgggtggaaatgggacaaatg	12	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72787133C>T	uc002jls.3	+	6	547	c.385C>T	c.(385-387)CGG>TGG	p.R129W	TMEM104_uc010wrf.1_Missense_Mutation_p.R129W|TMEM104_uc010wrg.1_Missense_Mutation_p.R142W|TMEM104_uc010dfx.2_Missense_Mutation_p.R129W	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	129	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)					AATCACAGACCGGGTGGAAAT	0.527													T	72787133	C	T	72787133	3	4	250	1	0	0	0	0	1	0	0	0	16015	643	23	1	403	1	TMEM104	17	72787133	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	22485	72787133	8408077	1211	125139											
OTOP2	92736	broad.mit.edu	37	chr17	72926469	72926469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttctacctatatcccttcAacatcgagtacagcctcttc	3	15	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72926469A>G	uc010wrp.1	+	7	828	c.739A>G	c.(739-741)AAC>GAC	p.N247D		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	247	Helical; (Potential).					integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					ATATCCCTTCAACATCGAGTA	0.572													G	72926469	A	G	72926469	3	3	250	1	0	0	0	0	1	0	0	0	11306	130	5	3	757	3	OTOP2	17	72926469	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	139336	72926469	8268741	1212	125140											
C17orf28	283987	broad.mit.edu	37	chr17	72956336	72956336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggaggtgaagaggggcaGggcatgtctgcagcaggaga	21	5	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:72956336G>A	uc002jmj.3	-	7	885	c.736C>T	c.(736-738)CTG>TTG	p.L246L	C17orf28_uc010wrs.1_Silent_p.L45L|C17orf28_uc002jmk.2_Silent_p.L245L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	246						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					AAGAGGGGCAGGGCATGTCTG	0.632													A	72956336	G	A	72956336	2	1	250	1	0	0	0	0	0	0	0	1	1853	991	35	4		4	C17orf28	17	72956336	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	29867	72956336	8238874	1213	125141											
KCTD2	23510	broad.mit.edu	37	chr17	73059134	73059134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaggagagaggatcgCggatgtaaactaagaccccg	12	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:73059134C>T	uc002jmp.2	+	6	851	c.784C>T	c.(784-786)CGG>TGG	p.R262W	KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	262						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					GAGAGGATCGCGGATGTAAAC	0.552													T	73059134	C	T	73059134	3	4	250	1	0	0	0	0	1	0	0	0	8107	759	27	1	806	1	KCTD2	17	73059134	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	102798	73059134	8136076	1214	125142											
GGA3	23163	broad.mit.edu	37	chr17	73238457	73238457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgaagagtcctcctggCtgtaatgaagcagcatctca	10	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:73238457C>T	uc002jni.1	-	8	716	c.707G>A	c.(706-708)AGC>AAC	p.S236N	GGA3_uc002jnj.1_Missense_Mutation_p.S203N|GGA3_uc010wrw.1_Missense_Mutation_p.S114N|GGA3_uc002jnk.1_Missense_Mutation_p.S164N|GGA3_uc010wrx.1_Missense_Mutation_p.S114N|GGA3_uc010wry.1_Missense_Mutation_p.S164N|GGA3_uc010wrz.1_3'UTR	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	236	GAT.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GTCCTCCTGGCTGTAATGAAG	0.587													T	73238457	C	T	73238457	3	4	250	1	0	0	0	0	1	0	0	0	6354	797	28	2	1592	2	GGA3	17	73238457	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	179323	73238457	7956753	1215	125143											
UNK	85451	broad.mit.edu	37	chr17	73808347	73808347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacgggccccatgacctcCgctcccctgtctacgacatc	7	21	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:73808347C>T	uc002jpm.2	+	4	697	c.697C>T	c.(697-699)CGC>TGC	p.R233C		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	157							nucleic acid binding|zinc ion binding				0			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)			CCATGACCTCCGCTCCCCTGT	0.602													T	73808347	C	T	73808347	3	4	250	1	0	0	0	0	1	0	0	0	16997	652	23	1	711	1	UNK	17	73808347	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	569890	73808347	7386863	1216	125144											
EVPL	2125	broad.mit.edu	37	chr17	74004016	74004016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtactcctccttagagatgCgccggcagcggagggcggcc	16	13	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74004016C>T	uc002jqi.2	-	22	5498	c.5270G>A	c.(5269-5271)CGC>CAC	p.R1757H	EVPL_uc010wss.1_Missense_Mutation_p.R1779H|EVPL_uc010wst.1_Missense_Mutation_p.R1227H	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1757	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTTAGAGATGCGCCGGCAGCG	0.637													T	74004016	C	T	74004016	3	4	250	1	0	0	0	0	1	0	0	0	5292	768	27	1	835	1	EVPL	17	74004016	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	195669	74004016	7191194	1217	125145											
EVPL	2125	broad.mit.edu	37	chr17	74004807	74004807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcactcccgattcagctcGgttacctgggtcttctcctg	9	14	3	0	rs148808819		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74004807G>A	uc002jqi.2	-	22	4707	c.4479C>T	c.(4477-4479)ACC>ACT	p.T1493T	EVPL_uc010wss.1_Silent_p.T1515T|EVPL_uc010wst.1_Silent_p.T963T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1493	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GATTCAGCTCGGTTACCTGGG	0.572													A	74004807	G	A	74004807	2	1	250	1	0	0	0	0	0	0	0	1	5292	1103	39	1		1	EVPL	17	74004807	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	791	74004807	7190403	1218	125146											
EVPL	2125	broad.mit.edu	37	chr17	74005247	74005247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtacaccgcgtcctccgCggcccgcctcttctgggccg	11	20	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74005247C>T	uc002jqi.2	-	22	4267	c.4039G>A	c.(4039-4041)GCG>ACG	p.A1347T	EVPL_uc010wss.1_Missense_Mutation_p.A1369T|EVPL_uc010wst.1_Missense_Mutation_p.A817T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1347	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						GCGTCCTCCGCGGCCCGCCTC	0.677													T	74005247	C	T	74005247	3	4	250	1	0	0	0	0	1	0	0	0	5292	768	27	1	2066	1	EVPL	17	74005247	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	440	74005247	7189963	1219	125147											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625215	74625215	+	Frame_Shift_Del	DEL	G	G	-													tggggctctggaaaggggcaGggggtggggtggcctgaggt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:74625214_74625214AG>A	uc002jsh.3	-	1	885	c.711_711CT>T	c.(709-711)cctfs	p.P237fs	ST6GALNAC1_uc002jsi.3_Frame_Shift_Del_p.P105fs|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	237					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						GGAAAGGGGCAGGGGGTGGGG	0.552													-	74625215	G	-	74625215	7	5	250	1	0	1	0	1	0	0	0	0	15222	1000	35	0	1124	0	ST6GALNAC1	17	74625215	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	619968	74625215	6569995	1220	125148											
SEC14L1	6397	broad.mit.edu	37	chr17	75208264	75208266	+	In_Frame_Del	DEL	AAG	AAG	-													ggagtcgcctctgatctgcaAagaaggagaaagcgtgcagg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:75208263_75208265AAAG>A	uc010dhc.3	+	14	2163_2165	c.1843_1845AAAG>A	c.(1843-1845)aaa>A	p.K615del	SEC14L1_uc021udw.1_In_Frame_Del_p.K615del|SEC14L1_uc021udx.1_In_Frame_Del_p.K615del|SEC14L1_uc002jto.3_In_Frame_Del_p.K615del|SEC14L1_uc010wth.2_In_Frame_Del_p.K615del|SEC14L1_uc002jtm.3_In_Frame_Del_p.K615del|SEC14L1_uc010wti.2_In_Frame_Del_p.K581del|SEC14L1_uc010wtj.1_In_Frame_Del_p.R106del|SEC14L1_uc002jtr.2_In_Frame_Del_p.K9del	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	615	GOLD.				transport	Golgi apparatus|integral to membrane	binding	p.P611fs*11(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTGATCTGCAAAGAAGGAGAAA	0.542													-	75208266	AAG	-	75208264	7	5	250	1	0	1	0	1	0	0	0	0	13981	14	1	0	1894	0	SEC14L1	17	75208264	In_Frame_Del	DEL	AAG	TCGA-HF-7132-01A-11D-2053-08	583049	75208264	5986946	1221	125149											
TMC8	147138	broad.mit.edu	37	chr17	76134212	76134213	+	Frame_Shift_Ins	INS	-	-	C													ggatgggcctcttctactgcINScccctgctgcccctgctgaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:76134211_76134212G>GC	uc002jup.2	+	11	1857_1858	c.1475_1476G>GC	c.(1474-1476)tgcfs	p.C492fs	TMC8_uc002juq.2_Frame_Shift_Ins_p.C269fs|TMC8_uc010wtr.1_Frame_Shift_Ins_p.L197fs|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	492						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)			CTCTTCTACTGCCCCCTGCTGC	0.619													C	76134213	-	C	76134212	7	5	250	1	0	1	1	0	0	0	0	0	15988	747	26	0	1518	0	TMC8	17	76134212	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	925948	76134212	5060998	1222	125150											
DNAH17	8632	broad.mit.edu	37	chr17	76446422	76446422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctctccgcagccgggcGgtagttctctctcgcttcgt	11	16	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:76446422G>A	uc010dhp.1	-	13	2176	c.1954C>T	c.(1954-1956)CGC>TGC	p.R652C	DNAH17_uc002jvq.2_5'Flank|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGCCGGGCGGTAGTTCTCT	0.517													A	76446422	G	A	76446422	3	1	250	1	0	0	0	0	1	0	0	0	4601	1116	39	1	2490	1	DNAH17	17	76446422	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	312210	76446422	4748788	1223	125151											
DNAH17	8632	broad.mit.edu	37	chr17	76456287	76456287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctgccagcagggccGgttctgctttggccaggtct	15	13	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:76456287G>A	uc010dhp.1	-	4	614	c.392C>T	c.(391-393)CCG>CTG	p.P131L	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCAGGGCCGGTTCTGCTTT	0.572													A	76456287	G	A	76456287	3	1	250	1	0	0	0	0	1	0	0	0	4601	1116	39	1	4088	1	DNAH17	17	76456287	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	9865	76456287	4738923	1224	125152											
RNF213	57674	broad.mit.edu	37	chr17	78363971	78363971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacccccaaacccaaaccGaggagcgcttccgccctcag	8	18	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:78363971G>A	uc002jyh.1	+	42	9887	c.9664G>A	c.(9664-9666)GAG>AAG	p.E3222K	uc002jyi.1_Intron|RNF213_uc010dhx.1_Missense_Mutation_p.E166K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACCCAAACCGAGGAGCGCTT	0.512													A	78363971	G	A	78363971	3	1	250	1	0	0	0	0	1	0	0	0	13477	1059	37	1	16026	1	RNF213	17	78363971	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1907684	78363971	2831239	1225	125153											
NPLOC4	55666	broad.mit.edu	37	chr17	79564302	79564302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagcggacggtaccctttCgggtatcttctgagacgagg	14	9	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:79564302C>T	uc002kat.3	-	10	1144	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	NPLOC4_uc002kau.3_Missense_Mutation_p.R321Q|NPLOC4_uc010wur.1_Missense_Mutation_p.R160Q	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	321					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			GGTACCCTTTCGGGTATCTTC	0.443													T	79564302	C	T	79564302	3	4	250	1	0	0	0	0	1	0	0	0	10586	884	31	1	896	1	NPLOC4	17	79564302	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1200331	79564302	1630908	1226	125154											
PCYT2	5833	broad.mit.edu	37	chr17	79866891	79866891	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagtgaacaccgggggCcccttgtgcttggcgatctc	13	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:79866891C>G	uc002kcf.1	-	3	264	c.201G>C	c.(199-201)GGG>GGC	p.G67G	PCYT2_uc010wva.1_Silent_p.G35G|PCYT2_uc010wvb.1_Silent_p.G35G|PCYT2_uc002kce.1_5'UTR|PCYT2_uc002kcg.1_Silent_p.G78G|PCYT2_uc002kch.1_Silent_p.G67G|PCYT2_uc002kci.1_Silent_p.G8G|PCYT2_uc010dii.1_Silent_p.G67G|PCYT2_uc010wvc.1_5'UTR	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	67	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACACCGGGGGCCCCTTGTGCT	0.622													G	79866891	C	G	79866891	2	3	250	1	0	0	0	0	0	0	0	1	11612	726	26	5		5	PCYT2	17	79866891	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	302589	79866891	1328319	1227	125155											
NOTUM	147111	broad.mit.edu	37	chr17	79913388	79913388	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtccaccgtcagctgtgcctCgtcaaacagccactgcacca	8	17	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:79913388C>A	uc010wvg.1	-	9	1293	c.1021G>T	c.(1021-1023)GAG>TAG	p.E341*		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	341						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCTGTGCCTCGTCAAACAGC	0.706													A	79913388	C	A	79913388	4	1	250	1	0	0	0	0	0	1	0	0	10552	893	31	5	481	5	NOTUM	17	79913388	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	46497	79913388	1281822	1228	125156											
HEXDC	284004	broad.mit.edu	37	chr17	80393683	80393683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcgtgaaggcccggcGccccagcgtgacacccctgg	15	17	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:80393683G>A	uc002kew.2	+	5	617	c.566G>A	c.(565-567)CGC>CAC	p.R189H	HEXDC_uc002kev.3_Missense_Mutation_p.R189H|HEXDC_uc010diq.2_Missense_Mutation_p.R189H|HEXDC_uc010wvm.1_RNA|HEXDC_uc010wvn.1_5'Flank			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	189					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAGGCCCGGCGCCCCAGCGTG	0.706													A	80393683	G	A	80393683	3	1	250	1	0	0	0	0	1	0	0	0	7075	1087	38	1	584	1	HEXDC	17	80393683	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	480295	80393683	801527	1229	125157											
HEXDC	284004	broad.mit.edu	37	chr17	80399708	80399708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcagcccctaccaccGccagcggaagctcatccacc	8	19	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:80399708G>A	uc002kew.2	+	11	1247	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	HEXDC_uc002kev.3_Missense_Mutation_p.A429T|HEXDC_uc010diq.2_Silent_p.P401P|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	399					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCTACCACCGCCAGCGGAAG	0.637													A	80399708	G	A	80399708	3	1	250	1	0	0	0	0	1	0	0	0	7075	1087	38	1	1323	1	HEXDC	17	80399708	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6025	80399708	795502	1230	125158											
ZNF750	79755	broad.mit.edu	37	chr17	80788991	80788991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaggctttgctctggcGggtagagtcttcccagtgcg	15	10	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr17:80788991G>A	uc002kga.2	-	2	1651	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	447						intracellular	zinc ion binding			central_nervous_system(1)	1	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)			TTGCTCTGGCGGGTAGAGTCT	0.587													A	80788991	G	A	80788991	3	1	250	1	0	0	0	0	1	0	0	0	18129	1116	39	1	839	1	ZNF750	17	80788991	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	389283	80788991	406219	1231	125159											
ZFP161	7541	broad.mit.edu	37	chr18	5291431	5291431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacttcatgtcactggcgGctgttgtccagcctggtgtc	11	12	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:5291431G>A	uc002kmq.2	-	4	937	c.776C>T	c.(775-777)GCC>GTC	p.A259V	ZFP161_uc002kmr.2_Missense_Mutation_p.A259V|ZFP161_uc010dkp.2_Missense_Mutation_p.A259V	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	259					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTCACTGGCGGCTGTTGTCCA	0.488													A	5291431	G	A	5291431	3	1	250	1	0	0	0	0	1	0	0	0	17637	1203	42	2	577	2	ZFP161	18	5291431	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		5291431	72785817	1232	125160											
PTPRM	5797	broad.mit.edu	37	chr18	8253339	8253339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagctccaccccgccatccGggtggcagacctccttcagc	10	19	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:8253339G>T	uc002knn.3	+	17	3145	c.2642G>T	c.(2641-2643)CGG>CTG	p.R881L	PTPRM_uc010dkv.2_Missense_Mutation_p.R894L|PTPRM_uc010wzl.1_Missense_Mutation_p.R668L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	881	Cytoplasmic (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CCCGCCATCCGGGTGGCAGAC	0.602													T	8253339	G	T	8253339	3	4	250	1	0	0	0	0	1	0	0	0	12806	1116	39	5	2755	5	PTPRM	18	8253339	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2961908	8253339	69823909	1233	125161											
KIAA0802	23255	broad.mit.edu	37	chr18	8813022	8813022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagaactaggctcctccGctgagagcaagggggccttg	16	10	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:8813022G>A	uc002knr.2	+	12	2792	c.2650G>A	c.(2650-2652)GCT>ACT	p.A884T	KIAA0802_uc002knq.2_Missense_Mutation_p.A843T|KIAA0802_uc002kns.2_Missense_Mutation_p.A252T	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1194											0						AGGCTCCTCCGCTGAGAGCAA	0.537													A	8813022	G	A	8813022	3	1	250	1	0	0	0	0	1	0	0	0	8194	1087	38	1	2688	1	KIAA0802	18	8813022	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	559683	8813022	69264226	1234	125162											
GNAL	2774	broad.mit.edu	37	chr18	11872328	11872328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatatgctggcagaaaaaGtcttggcagggaaatcaaaa	11	5	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:11872328G>A	uc010dkz.2	+	11	1108	c.862G>A	c.(862-864)GTC>ATC	p.V288I	GNAL_uc002kqc.2_Missense_Mutation_p.V365I|GNAL_uc002kqd.2_Missense_Mutation_p.V288I|GNAL_uc010wzt.1_Missense_Mutation_p.V81I	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	288					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GGCAGAAAAAGTCTTGGCAGG	0.328													A	11872328	G	A	11872328	3	1	250	1	0	0	0	0	1	0	0	0	6507	1029	36	4	1280	4	GNAL	18	11872328	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3059306	11872328	66204920	1235	125163											
CEP192	55125	broad.mit.edu	37	chr18	13067918	13067918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaaattgataaaccgaaCgcatgccactgtgccaatta	6	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:13067918C>T	uc010xac.1	+	22	4657	c.4577C>T	c.(4576-4578)ACG>ATG	p.T1526M	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.T1051M|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Translation_Start_Site|CEP192_uc002krw.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1526										ovary(4)|pancreas(1)	5						ATAAACCGAACGCATGCCACT	0.358													T	13067918	C	T	13067918	3	4	250	1	0	0	0	0	1	0	0	0	3251	536	19	1	4659	1	CEP192	18	13067918	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1195590	13067918	65009330	1236	125164											
ESCO1	114799	broad.mit.edu	37	chr18	19154054	19154054	+	Frame_Shift_Del	DEL	T	T	-													cgggaccactgaagtagccaTttttgatcttttcacctcag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:19154053_19154053AT>A	uc002kth.1	-	3	1686	c.752_752AT>T	c.(751-753)atgfs	p.M251fs	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	251					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						TGAAGTAGCCATTTTTGATCT	0.428													-	19154054	T	-	19154054	7	5	250	1	0	1	0	1	0	0	0	0	5248	1493	52	0	1807	0	ESCO1	18	19154054	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	6086136	19154054	58923194	1237	125165											
NPC1	4864	broad.mit.edu	37	chr18	21118569	21118569	+	Frame_Shift_Del	DEL	C	C	-													gcaggaatctcatgaagtctCccccctgaggcctctgtttg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:21118568_21118568TC>T	uc002kum.4	-	19	3253	c.2979_2979GA>A	c.(2977-2979)ggafs	p.G993fs	NPC1_uc010xaz.2_Frame_Shift_Del_p.G726fs	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	993					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)					TCATGAAGTCTCCCCCCTGAG	0.562													-	21118569	C	-	21118569	7	5	250	1	0	1	0	1	0	0	0	0	10570	855	30	0	882	0	NPC1	18	21118569	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	1964515	21118569	56958679	1238	125166											
SETBP1	26040	broad.mit.edu	37	chr18	42532870	42532870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccacatcctgagcgagCggctgagtagcgcagacaaa	12	13	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:42532870C>T	uc010dni.2	+	4	3861	c.3565C>T	c.(3565-3567)CGG>TGG	p.R1189W		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1189						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGAGCGAGCGGCTGAGTAG	0.552									Schinzel-Giedion_syndrome				T	42532870	C	T	42532870	3	4	250	1	0	0	0	0	1	0	0	0	14129	759	27	1	3768	1	SETBP1	18	42532870	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	21414301	42532870	35544378	1239	125167											
SETBP1	26040	broad.mit.edu	37	chr18	42618454	42618454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttattttttagggatGccaagtccccacttaaaagt	9	7	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:42618454G>T	uc010dni.2	+	5	4301	c.4005G>T	c.(4003-4005)ATG>ATT	p.M1335I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1335						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTTTAGGGATGCCAAGTCCCC	0.463									Schinzel-Giedion_syndrome				T	42618454	G	T	42618454	3	4	250	1	0	0	0	0	1	0	0	0	14129	1319	46	5	4212	5	SETBP1	18	42618454	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	85584	42618454	35458794	1240	125168											
PIAS2	9063	broad.mit.edu	37	chr18	44392503	44392503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactgctttcatgggagcTggtggtggtgacagacgtac	15	7	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:44392503T>C	uc002lck.2	-	14	1917	c.1759A>G	c.(1759-1761)AGC>GGC	p.S587G	PIAS2_uc010dnp.2_Missense_Mutation_p.S285G	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	587	Ser-rich.				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			ovary(2)|breast(1)|skin(1)	4						TCATGGGAGCTGGTGGTGGTG	0.463													C	44392503	T	C	44392503	3	2	250	1	0	0	0	0	1	0	0	0	11876	1580	55	3	110	3	PIAS2	18	44392503	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1774049	44392503	33684745	1241	125169											
CCDC11	220136	broad.mit.edu	37	chr18	47792706	47792706	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacatatcctgtgcttacCacgatcaccactttgggggt	9	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:47792706C>A	uc002lee.2	-	1	160	c.69G>T	c.(67-69)GTG>GTT	p.V23V		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	23										ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTGTGCTTACCACGATCACCA	0.632													A	47792706	C	A	47792706	2	1	250	1	0	0	0	0	0	0	0	1	2746	608	21	5		5	CCDC11	18	47792706	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3400203	47792706	30284542	1242	125170											
MAPK4	5596	broad.mit.edu	37	chr18	48190761	48190761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacatccactccgccaacGtgctgcacagggacctgaag	10	14	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:48190761G>A	uc002lev.2	+	2	1433	c.433G>A	c.(433-435)GTG>ATG	p.V145M	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.V145M	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	145	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTCCGCCAACGTGCTGCACAG	0.592													A	48190761	G	A	48190761	3	1	250	1	0	0	0	0	1	0	0	0	9280	1145	40	1	435	1	MAPK4	18	48190761	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	398055	48190761	29886487	1243	125171											
CCDC68	80323	broad.mit.edu	37	chr18	52575028	52575028	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccttaccttgtagagacAgccttagatacctttgtcct	7	11	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:52575028A>G	uc002lfs.2	-	11	1111	c.939T>C	c.(937-939)GCT>GCC	p.A313A	CCDC68_uc002lft.2_Silent_p.A313A	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	313										skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTGTAGAGACAGCCTTAGATA	0.393													G	52575028	A	G	52575028	2	3	250	1	0	0	0	0	0	0	0	1	2840	175	7	3		3	CCDC68	18	52575028	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	4384267	52575028	25502220	1244	125172											
SERPINB2	5055	broad.mit.edu	37	chr18	61600331	61600331	+	Frame_Shift_Del	DEL	T	T	-													tatgaagaaaaagcttcacaTttttcacatagaaaagccaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:61600330_61600330AT>A	uc010xev.2	+	6	772	c.682_682AT>A	c.(682-684)attfs	p.I228fs	SERPINB2_uc010xew.2_Frame_Shift_Del_p.I228fs	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	243					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAAGCTTCACATTTTTCACAT	0.368													-	61600331	T	-	61600331	7	5	250	1	0	1	0	1	0	0	0	0	14101	1493	52	0		0	SERPINB2	18	61600331	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	9025303	61600331	16476917	1245	125173											
CCDC102B	79839	broad.mit.edu	37	chr18	66504103	66504103	+	Frame_Shift_Del	DEL	C	C	-													acatggtggcacctgcctcaCcccccagggatacctgtaat							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr18:66504102_66504102AC>A	uc002lkk.2	+	3	325	c.102_102AC>A	c.(100-102)tcafs	p.S34fs	CCDC102B_uc002lki.2_Frame_Shift_Del_p.S34fs|CCDC102B_uc002lkj.1_Frame_Shift_Del_p.S34fs	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	34										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)				CACCTGCCTCACCCCCCAGGG	0.453													-	66504103	C	-	66504103	7	5	250	1	0	1	0	1	0	0	0	0	2737	507	18	0	105	0	CCDC102B	18	66504103	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	4903772	66504103	11573145	1246	125174											
ELANE	1991	broad.mit.edu	37	chr19	852351	852351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcggccgccgactcgCgtgtcttttcctcgcctgtg	11	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:852351C>T	uc002lqb.2	+	1	61	c.23C>T	c.(22-24)GCG>GTG	p.A8V		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	8					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGCCGACTCGCGTGTCTTTTC	0.677									Kostmann_syndrome				T	852351	C	T	852351	3	4	250	1	0	0	0	0	1	0	0	0	5048	768	27	1	25	1	ELANE	19	852351	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08		852351	58276632	1247	125175											
ABCA7	10347	broad.mit.edu	37	chr19	1065352	1065352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgggagtggaccccgcGccaggcctgcagcaccccaa	15	15	0	0	rs145934264	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:1065352G>A	uc002lqw.3	+	47	6600	c.6369G>A	c.(6367-6369)GCG>GCA	p.A2123A	ABCA7_uc002lqy.2_Silent_p.A576A|ABCA7_uc010dsc.2_RNA|HMHA1_uc010xgd.1_5'Flank|HMHA1_uc002lqz.1_5'Flank|HMHA1_uc010xge.1_5'Flank|HMHA1_uc002lra.1_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	2123					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		TGGACCCCGCGCCAGGCCTGC	0.657											OREG0025112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1065352	G	A	1065352	2	1	250	1	0	0	0	0	0	0	0	1	37	1074	38	1		1	ABCA7	19	1065352	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	213001	1065352	58063631	1248	125176											
REXO1	57455	broad.mit.edu	37	chr19	1828274	1828274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccggctcggcaggggCggccagtggggtgggctggt	22	11	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:1828274C>T	uc002lua.3	-	2	609	c.514G>A	c.(514-516)GCC>ACC	p.A172T	REXO1_uc010dsr.1_Missense_Mutation_p.A126T	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	172						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		TCGGCAGGGGCGGCCAGTGGG	0.701													T	1828274	C	T	1828274	3	4	250	1	0	0	0	0	1	0	0	0	13241	768	27	1	3211	1	REXO1	19	1828274	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	762922	1828274	57300709	1249	125177											
SPPL2B	56928	broad.mit.edu	37	chr19	2345252	2345252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgtgcctcccccaggGctgctggtggcctactgcca	12	18	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2345252G>A	uc002lvs.2	+	14	1358	c.1278G>A	c.(1276-1278)GGG>GGA	p.G426G	SPPL2B_uc002lvr.2_Silent_p.G426G	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	426	Helical; (Potential).					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		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)		CTCCCCCAGGGCTGCTGGTGG	0.672													A	2345252	G	A	2345252	2	1	250	1	0	0	0	0	0	0	0	1	15088	1217	42	2		2	SPPL2B	19	2345252	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	516978	2345252	56783731	1250	125178											
SLC39A3	29985	broad.mit.edu	37	chr19	2733324	2733324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctgcccacgtccgatcCggcgttgaaggtctccaggt	13	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2733324C>T	uc002lwg.2	-	3	624	c.370G>A	c.(370-372)GGA>AGA	p.G124R	SLC39A3_uc010xgy.1_Missense_Mutation_p.G124R	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	124	Cytoplasmic (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		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)		ACGTCCGATCCGGCGTTGAAG	0.662													T	2733324	C	T	2733324	3	4	250	1	0	0	0	0	1	0	0	0	14619	661	23	1	578	1	SLC39A3	19	2733324	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	388072	2733324	56395659	1251	125179											
ZNF556	80032	broad.mit.edu	37	chr19	2877955	2877955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcatccttacacaaacaCgcgagaacgcatgctaaaaa	5	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2877955C>T	uc002lwp.1	+	4	1086	c.999C>T	c.(997-999)CAC>CAT	p.H333H	ZNF556_uc002lwq.2_Silent_p.H332H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	333	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		TACACAAACACGCGAGAACGC	0.512													T	2877955	C	T	2877955	2	4	250	1	0	0	0	0	0	0	0	1	17984	535	19	1		1	ZNF556	19	2877955	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	144631	2877955	56251028	1252	125180											
TLE6	79816	broad.mit.edu	37	chr19	2989174	2989174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgcggatcttggcacacGgggagctcgtgctcgccacg	15	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:2989174G>T	uc002lwu.2	+	11	887	c.487G>T	c.(487-489)GGG>TGG	p.G163W	TLE6_uc002lwt.2_Missense_Mutation_p.G286W|TLE6_uc010dtg.2_Missense_Mutation_p.G286W|TLE6_uc002lwv.2_Missense_Mutation_p.G67W	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	163	WD 1.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		CTTGGCACACGGGGAGCTCGT	0.602													T	2989174	G	T	2989174	3	4	250	1	0	0	0	0	1	0	0	0	15939	1116	39	5	898	5	TLE6	19	2989174	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	111219	2989174	56139809	1253	125181											
TBXA2R	6915	broad.mit.edu	37	chr19	3600260	3600260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgctctgaggccatggCggcccccagcagcagcgggg	17	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:3600260C>T	uc002lyg.1	-	2	587	c.373G>A	c.(373-375)GCC>ACC	p.A125T	TBXA2R_uc002lye.1_Missense_Mutation_p.A125T	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	125	Helical; Name=3; (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	GAGGCCATGGCGGCCCCCAGC	0.716													T	3600260	C	T	3600260	3	4	250	1	0	0	0	0	1	0	0	0	15660	768	27	1	911	1	TBXA2R	19	3600260	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	611086	3600260	55528723	1254	125182											
PIAS4	51588	broad.mit.edu	37	chr19	4037624	4037624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccgtaggcccctcggaCgccaatgggctcctgcccgc	12	18	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:4037624C>T	uc002lzg.2	+	11	1294	c.1284C>T	c.(1282-1284)GAC>GAT	p.D428D		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	428					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			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCTCGGACGCCAATGGGC	0.692													T	4037624	C	T	4037624	2	4	250	1	0	0	0	0	0	0	0	1	11878	535	19	1		1	PIAS4	19	4037624	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	437364	4037624	55091359	1255	125183											
FSD1	79187	broad.mit.edu	37	chr19	4323385	4323385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcaccaaacaagtgctGcacactttcaagaccaggtt	8	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:4323385G>A	uc002lzy.2	+	12	1485	c.1332G>A	c.(1330-1332)CTG>CTA	p.L444L	FSD1_uc002lzz.2_Missense_Mutation_p.C414Y|FSD1_uc002maa.2_Silent_p.L257L	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	444	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGTGCTGCACACTTTCA	0.652													A	4323385	G	A	4323385	2	1	250	1	0	0	0	0	0	0	0	1	6070	1306	46	2		2	FSD1	19	4323385	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	285761	4323385	54805598	1256	125184											
UBXN6	80700	broad.mit.edu	37	chr19	4445546	4445546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggtttcaggatggagtcCggctcggcccccgcggcctt	15	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:4445546C>T	uc002man.1	-	11	1371	c.1275G>A	c.(1273-1275)CCG>CCA	p.P425P	UBXN6_uc010dty.1_Silent_p.P329P|UBXN6_uc002mam.1_Silent_p.P372P	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	425						microtubule organizing center|nucleus	protein binding				0						GGATGGAGTCCGGCTCGGCCC	0.617													T	4445546	C	T	4445546	2	4	250	1	0	0	0	0	0	0	0	1	16914	639	23	1		1	UBXN6	19	4445546	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	122161	4445546	54683437	1257	125185											
FUT6	2528	broad.mit.edu	37	chr19	5832493	5832493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagataggagaagaaaCacacagccatcagcagctga	10	11	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:5832493C>T	uc002mdf.1	-	4	612	c.86G>A	c.(85-87)TGT>TAT	p.C29Y	FUT6_uc002mdg.1_Missense_Mutation_p.C29Y|FUT6_uc002mdh.1_Missense_Mutation_p.C29Y|FUT6_uc010dul.1_Missense_Mutation_p.C29Y	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	29	Helical; Signal-anchor for type II membrane protein; (Potential).				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				0						GGAGAAGAAACACACAGCCAT	0.607													T	5832493	C	T	5832493	3	4	250	1	0	0	0	0	1	0	0	0	6108	478	17	4	997	4	FUT6	19	5832493	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1386947	5832493	53296490	1258	125186											
FUT5	2527	broad.mit.edu	37	chr19	5866758	5866758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtagctcaggtagcgggCgtggtccttgtccagctcct	13	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:5866758C>T	uc002mdo.3	-	2	1067	c.979G>A	c.(979-981)GCC>ACC	p.A327T	FUT5_uc010duo.2_Missense_Mutation_p.A327T	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	327	Lumenal (Potential).				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				0						AGGTAGCGGGCGTGGTCCTTG	0.642													T	5866758	C	T	5866758	3	4	250	1	0	0	0	0	1	0	0	0	6107	768	27	1	149	1	FUT5	19	5866758	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	34265	5866758	53262225	1259	125187											
RANBP3	8498	broad.mit.edu	37	chr19	5918537	5918537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaccttcacgccctggtcCtcggtgtccatggctgtgat	11	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:5918537C>A	uc002mdw.2	-	15	1670	c.1443G>T	c.(1441-1443)GAG>GAT	p.E481D	RANBP3_uc002mdv.2_Missense_Mutation_p.E200D|RANBP3_uc002mdx.2_Missense_Mutation_p.E476D|RANBP3_uc002mdy.2_Missense_Mutation_p.E413D|RANBP3_uc002mdz.2_Missense_Mutation_p.E408D|RANBP3_uc010duq.2_Missense_Mutation_p.E386D|RANBP3_uc002mea.2_Missense_Mutation_p.E348D|RANBP3_uc010xix.1_Missense_Mutation_p.E353D	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	481	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CGCCCTGGTCCTCGGTGTCCA	0.627													A	5918537	C	A	5918537	3	1	250	1	0	0	0	0	1	0	0	0	13029	680	24	5	272	5	RANBP3	19	5918537	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	51779	5918537	53210446	1260	125188											
INSR	3643	broad.mit.edu	37	chr19	7184545	7184545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagttgcggcaggccacGcacttggtggggtcgtcggg	18	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7184545G>A	uc002mgd.1	-	3	865	c.756C>T	c.(754-756)TGC>TGT	p.C252C	INSR_uc002mge.1_Silent_p.C252C|INSR_uc002mgf.2_Silent_p.C252C	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	252	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCAGGCCACGCACTTGGTGG	0.632													A	7184545	G	A	7184545	2	1	250	1	0	0	0	0	0	0	0	1	7773	1079	38	1		1	INSR	19	7184545	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1266008	7184545	51944438	1261	125189											
KIAA1543	57662	broad.mit.edu	37	chr19	7670158	7670158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttctataccgaccagtaCgcgcaggagcatgtgaagcc	10	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7670158C>T	uc002mgv.3	+	2	296	c.195C>T	c.(193-195)TAC>TAT	p.Y65Y	KIAA1543_uc002mgu.3_Silent_p.Y65Y	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	65					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CCGACCAGTACGCGCAGGAGC	0.622													T	7670158	C	T	7670158	2	4	250	1	0	0	0	0	0	0	0	1	8243	547	19	1		1	KIAA1543	19	7670158	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	485613	7670158	51458825	1262	125190											
KIAA1543	57662	broad.mit.edu	37	chr19	7671163	7671163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcccccacagggagccCacctagctgtcattgatgcc	10	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7671163C>A	uc002mgv.3	+	3	510	c.409C>A	c.(409-411)CAC>AAC	p.H137N	KIAA1543_uc002mgu.3_Missense_Mutation_p.H137N	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	137					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						ACAGGGAGCCCACCTAGCTGT	0.622													A	7671163	C	A	7671163	3	1	250	1	0	0	0	0	1	0	0	0	8243	594	21	5	419	5	KIAA1543	19	7671163	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1005	7671163	51457820	1263	125191											
LRRC8E	80131	broad.mit.edu	37	chr19	7964762	7964763	+	Frame_Shift_Ins	INS	-	-	C													gccatctgcgatatcaccttINSccccccggggctgtcacagc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7964762_7964763insC	uc002mir.2	+	3	1456_1457	c.1355_1356insC	c.(1354-1356)TTCfs	p.F452fs		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	452						integral to membrane				lung(1)|pancreas(1)	2						GATATCACCTTCCCCCCGGGGC	0.644													C	7964763	-	C	7964762	7	5	250	1	0	1	1	0	0	0	0	0	9025	1783	62	0	1361	0	LRRC8E	19	7964762	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	293599	7964762	51164221	1264	125192	650	2									
LRRC8E	80131	broad.mit.edu	37	chr19	7964763	7964764	+	Frame_Shift_Ins	INS	-	-	C													ccatctgcgatatcaccttcINScccccggggctgtcacagct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:7964762_7964763T>TC	uc002mir.3	+	2	1456_1457	c.1355_1356T>TC	c.(1354-1356)ttcfs	p.F452fs		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	452						integral to membrane		p.P454fs*33(1)		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						GATATCACCTTCCCCCCGGGGC	0.644													C	7964764	-	C	7964763	7	5	250	1	0	1	1	0	0	0	0	0	9025	854	30	0	1362	0	LRRC8E	19	7964763	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1	7964763	51164220	1265	125193	650	2									
MYO1F	4542	broad.mit.edu	37	chr19	8595116	8595116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttggtgaccgaatcggcGaagtccacccgctccctctt	9	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:8595116G>A	uc002mkg.2	-	21	2406	c.2292C>T	c.(2290-2292)TTC>TTT	p.F764F		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	764						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CCGAATCGGCGAAGTCCACCC	0.642													A	8595116	G	A	8595116	2	1	250	1	0	0	0	0	0	0	0	1	10073	1049	37	1		1	MYO1F	19	8595116	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	630353	8595116	50533867	1266	125194											
OR2Z1	284383	broad.mit.edu	37	chr19	8842032	8842032	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgctccctctttccctcatCgccacctcctacggccacgt	5	20	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:8842032C>T	uc010xkg.1	+	1	642	c.642C>T	c.(640-642)ATC>ATT	p.I214I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						TTTCCCTCATCGCCACCTCCT	0.592													T	8842032	C	T	8842032	2	4	250	1	0	0	0	0	0	0	0	1	11036	874	31	1		1	OR2Z1	19	8842032	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	246916	8842032	50286951	1267	125195											
MUC16	94025	broad.mit.edu	37	chr19	9069476	9069476	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagtgagtatctcaccTgagaagctacttgcacttgg	10	9	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:9069476T>C	uc002mkp.2	-	3	18174	c.17970A>G	c.(17968-17970)TCA>TCG	p.S5990S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5992	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTATCTCACCTGAGAAGCTAC	0.458													C	9069476	T	C	9069476	2	2	250	1	0	0	0	0	0	0	0	1	9973	1567	55	3		3	MUC16	19	9069476	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	227444	9069476	50059507	1268	125196											
MUC16	94025	broad.mit.edu	37	chr19	9077552	9077552	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccctcctggagttccAgaataaaggttggtccaagc	11	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:9077552A>G	uc002mkp.2	-	3	10098	c.9894T>C	c.(9892-9894)TCT>TCC	p.S3298S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3299	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGGAGTTCCAGAATAAAGGT	0.527													G	9077552	A	G	9077552	2	3	250	1	0	0	0	0	0	0	0	1	9973	175	7	3		3	MUC16	19	9077552	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	8076	9077552	50051431	1269	125197											
OR7D2	162998	broad.mit.edu	37	chr19	9296725	9296726	+	Frame_Shift_Ins	INS	-	-	A													gaacatccagaccgagaacaINSaagccatctcctacatggac							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:9296724_9296725C>CA	uc002mkz.1	+	0	455_456	c.267_268C>CA	c.(265-270)aacaaafs	p.N89fs		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	89					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						AGACCGAGAACAAAGCCATCTC	0.505													A	9296726	-	A	9296725	7	5	250	1	0	1	1	0	0	0	0	0	11219	131	5	0	270	0	OR7D2	19	9296725	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	219173	9296725	49832258	1270	125198											
KRI1	65095	broad.mit.edu	37	chr19	10670506	10670506	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgatgctgagtccggctcctCgaaacggaaattgtacttct	10	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:10670506C>A	uc002moy.1	-	10	934	c.925G>T	c.(925-927)GAG>TAG	p.E309*	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Nonsense_Mutation_p.E305*	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	309	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCGGCTCCTCGAAACGGAAA	0.602													A	10670506	C	A	10670506	4	1	250	1	0	0	0	0	0	1	0	0	8444	893	31	5	1244	5	KRI1	19	10670506	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1373781	10670506	48458477	1271	125199											
SMARCA4	6597	broad.mit.edu	37	chr19	11118655	11118655	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagattccagatccAgacagcgatgacgtctctga	10	9	1	7			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11118655A>C	uc002mqf.3	+	14	2363	c.2079A>C	c.(2077-2079)CCA>CCC	p.P693P	SMARCA4_uc010dxp.2_Silent_p.P693P|SMARCA4_uc010dxo.2_Silent_p.P693P|SMARCA4_uc002mqg.1_Silent_p.P693P|SMARCA4_uc010dxq.2_Silent_p.P693P|SMARCA4_uc010dxr.2_Silent_p.P693P|SMARCA4_uc002mqj.3_Silent_p.P693P|SMARCA4_uc010dxs.2_Silent_p.P693P	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	693					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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCCAGATCCAGACAGCGATG	0.597			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				C	11118655	A	C	11118655	2	2	250	1	0	0	0	0	0	0	0	1	14770	175	7	5		5	SMARCA4	19	11118655	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	448149	11118655	48010328	1272	125200											
LDLR	3949	broad.mit.edu	37	chr19	11224068	11224068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgtggtcgctctggacaCggaggtggccagcaatagaa	15	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11224068C>T	uc002mqk.3	+	9	1469	c.1301C>T	c.(1300-1302)ACG>ATG	p.T434M	LDLR_uc010xlk.1_Missense_Mutation_p.T434M|LDLR_uc010xll.1_Missense_Mutation_p.T393M|LDLR_uc010xlm.1_Missense_Mutation_p.T287M|LDLR_uc010xln.1_Missense_Mutation_p.T307M|LDLR_uc010xlo.1_Missense_Mutation_p.T266M	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	434	LDL-receptor class B 1.|Extracellular (Potential).		T -> K (in Algeria-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			ovary(2)|skin(2)	4		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)	GCTCTGGACACGGAGGTGGCC	0.602													T	11224068	C	T	11224068	3	4	250	1	0	0	0	0	1	0	0	0	8704	536	19	1	1335	1	LDLR	19	11224068	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	105413	11224068	47904915	1273	125201											
KANK2	25959	broad.mit.edu	37	chr19	11304103	11304103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttttcctcctggagcAccgagagcttcacctggagc	11	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11304103A>G	uc010dxv.2	-	6	1211	c.653T>C	c.(652-654)GTG>GCG	p.V218A	KANK2_uc002mqm.2_Missense_Mutation_p.V218A|KANK2_uc002mqo.3_Missense_Mutation_p.V218A|KANK2_uc002mqp.1_Missense_Mutation_p.V27A|KANK2_uc002mqq.2_Missense_Mutation_p.V218A	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	218	Potential.										0						CTCCTGGAGCACCGAGAGCTT	0.657													G	11304103	A	G	11304103	3	3	250	1	0	0	0	0	1	0	0	0	7977	159	6	3	1966	3	KANK2	19	11304103	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	80035	11304103	47824880	1274	125202											
ELAVL3	1995	broad.mit.edu	37	chr19	11565617	11565617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgcccgccgcgcccccCgacaggcccacgcccgccag	12	25	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11565617C>T	uc002mry.1	-	7	1208	c.828G>A	c.(826-828)TCG>TCA	p.S276S	ELAVL3_uc002mrx.1_Silent_p.S269S	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	276					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						ccgcgccccccgACAGGCCCA	0.567													T	11565617	C	T	11565617	2	4	250	1	0	0	0	0	0	0	0	1	5051	639	23	1		1	ELAVL3	19	11565617	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	261514	11565617	47563366	1275	125203											
ZNF653	115950	broad.mit.edu	37	chr19	11598654	11598654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggccctcaggagactcCtcagagtcagaggcagagcc	14	13	3	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11598654C>A	uc002mrz.1	-	4	677	c.624G>T	c.(622-624)GAG>GAT	p.E208D		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGGAGACTCCTCAGAGTCAG	0.657													A	11598654	C	A	11598654	3	1	250	1	0	0	0	0	1	0	0	0	18063	680	24	5	1247	5	ZNF653	19	11598654	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	33037	11598654	47530329	1276	125204											
ECSIT	51295	broad.mit.edu	37	chr19	11624896	11624896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccgttccccaccaggCgcctgcccaaacaggtcctc	8	19	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:11624896C>T	uc002msb.2	-	3	371	c.237G>A	c.(235-237)GCG>GCA	p.A79A	ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Silent_p.A79A|ECSIT_uc010dyd.2_Silent_p.A79A|ECSIT_uc010xma.1_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	79					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						CCCCACCAGGCGCCTGCCCAA	0.627													T	11624896	C	T	11624896	2	4	250	1	0	0	0	0	0	0	0	1	4900	755	27	1		1	ECSIT	19	11624896	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	26242	11624896	47504087	1277	125205											
ZNF490	57474	broad.mit.edu	37	chr19	12691650	12691650	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcgtaagttttctcgccAgtgtgaactctttcgtgcaa	8	10	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:12691650A>C	uc002mtz.2	-	5	1368	c.1239T>G	c.(1237-1239)ACT>ACG	p.T413T		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTTCTCGCCAGTGTGAACTC	0.378													C	12691650	A	C	12691650	2	2	250	1	0	0	0	0	0	0	0	1	17938	175	7	5		5	ZNF490	19	12691650	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1066754	12691650	46437333	1278	125206											
ZNF490	57474	broad.mit.edu	37	chr19	12692077	12692077	+	Frame_Shift_Del	DEL	T	T	-													agggtttctctccagtgtgaTttttttcatggcgccgaaga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:12692076_12692076AT>A	uc002mtz.2	-	4	942	c.813_813AT>T	c.(811-813)aatfs	p.N271fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCCAGTGTGATTTTTTTCAT	0.413													-	12692077	T	-	12692077	7	5	250	1	0	1	0	1	0	0	0	0	17938	1493	52	0	781	0	ZNF490	19	12692077	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	427	12692077	46436906	1279	125207											
MAST1	22983	broad.mit.edu	37	chr19	12985201	12985201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggctgtggccaaggcGgcgctgagcccggtgcagga	19	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:12985201G>A	uc002mvm.2	+	26	4358	c.4230G>A	c.(4228-4230)GCG>GCA	p.A1410A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1410					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						TGGCCAAGGCGGCGCTGAGCC	0.726													A	12985201	G	A	12985201	2	1	250	1	0	0	0	0	0	0	0	1	9324	1103	39	1		1	MAST1	19	12985201	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	293124	12985201	46143782	1280	125208											
CC2D1A	54862	broad.mit.edu	37	chr19	14031609	14031609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcaagaagcagctcctGcaggccgcactgcgagccaa	13	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14031609G>A	uc002mxo.2	+	14	1814	c.1515G>A	c.(1513-1515)CTG>CTA	p.L505L	CC2D1A_uc002mxp.2_Silent_p.L505L|CC2D1A_uc010dzh.2_Silent_p.L74L|CC2D1A_uc002mxq.1_Silent_p.L150L	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	505	Potential.				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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGCAGCTCCTGCAGGCCGCAC	0.647													A	14031609	G	A	14031609	2	1	250	1	0	0	0	0	0	0	0	1	2726	1306	46	2		2	CC2D1A	19	14031609	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1046408	14031609	45097374	1281	125209											
CC2D1A	54862	broad.mit.edu	37	chr19	14037633	14037633	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcctctctggtcataGgaagaagctcagaaagacaa	9	11	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14037633G>T	uc002mxo.2	+	20	2373	c.2074_splice	c.e20-1	p.E692_splice	CC2D1A_uc002mxp.2_Splice_Site_p.E692_splice|CC2D1A_uc010dzh.2_Splice_Site_p.E261_splice|CC2D1A_uc002mxq.1_Splice_Site_p.E337_splice	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCTGGTCATAGGAAGAAGCTC	0.592													T	14037633	G	T	14037633	5	4	250	1	0	0	0	0	0	0	1	0	2726	1014	35	5	2151	5	CC2D1A	19	14037633	Splice_Site	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6024	14037633	45091350	1282	125210											
PKN1	5585	broad.mit.edu	37	chr19	14581060	14581060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacggacacgtcgtacacGcgagctgtggactggtgggg	17	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14581060G>A	uc002myp.2	+	19	2547	c.2379G>A	c.(2377-2379)ACG>ACA	p.T793T	PKN1_uc002myq.2_Silent_p.T799T|PKN1_uc002myr.2_Silent_p.T133T	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	793	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			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						CGTCGTACACGCGAGCTGTGG	0.637													A	14581060	G	A	14581060	2	1	250	1	0	0	0	0	0	0	0	1	11979	1074	38	1		1	PKN1	19	14581060	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	543427	14581060	44547923	1283	125211											
ZNF333	84449	broad.mit.edu	37	chr19	14805828	14805828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgctgttttaggaatccGtcacctttgaggatgtggcc	13	8	1	1	rs141404811	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:14805828G>A	uc002mzn.2	+	3	144	c.10G>A	c.(10-12)GTC>ATC	p.V4I	ZNF333_uc010dzq.2_Missense_Mutation_p.V4I|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.V4I|ZNF333_uc002mzm.2_Missense_Mutation_p.V4I|ZNF333_uc010dzr.1_RNA	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	4	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TTAGGAATCCGTCACCTTTGA	0.527													A	14805828	G	A	14805828	3	1	250	1	0	0	0	0	1	0	0	0	17847	1145	40	1	16	1	ZNF333	19	14805828	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	224768	14805828	44323155	1284	125212											
NOTCH3	4854	broad.mit.edu	37	chr19	15273307	15273308	+	Frame_Shift_Ins	INS	-	-	T													catgtccttattggctccatINSttttgagcagggccaaagtg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:15273306_15273307A>AT	uc002nan.3	-	31	5958_5959	c.5882_5883T>AT	c.(5881-5883)aatfs	p.N1961fs		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1961					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|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)			TATTGGCTCCATTTTTGAGCAG	0.574													T	15273308	-	T	15273307	7	5	250	1	0	1	1	0	0	0	0	0	10550	1493	52	0	1091	0	NOTCH3	19	15273307	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	467479	15273307	43855676	1285	125213											
OR10H1	26539	broad.mit.edu	37	chr19	15918418	15918418	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccaggagcagcccaccaGgcaggcgcagccccgcgggc	15	18	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:15918418G>T	uc002nbq.2	-	1	519	c.430C>A	c.(430-432)CTG>ATG	p.L144M		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAGCCCACCAGGCAGGCGCAG	0.637													T	15918418	G	T	15918418	3	4	250	1	0	0	0	0	1	0	0	0	10905	991	35	5	530	5	OR10H1	19	15918418	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	645111	15918418	43210565	1286	125214											
C19orf44	84167	broad.mit.edu	37	chr19	16620329	16620329	+	Frame_Shift_Del	DEL	A	A	-													ggaggaaagtgctcagagacAaaaaacagctggcaaaatct					rs3826726		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:16620328_16620328CA>C	uc002neh.1	+	4	1241	c.1168_1168CA>C	c.(1168-1170)caafs	p.Q390fs	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Frame_Shift_Del_p.Q390fs|C19orf44_uc002neg.3_Frame_Shift_Del_p.Q390fs|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	390										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGCTCAGAGACAAAAAACAGC	0.552													-	16620329	A	-	16620329	7	5	250	1	0	1	0	1	0	0	0	0	1927	130	5	0	1183	0	C19orf44	19	16620329	Frame_Shift_Del	DEL	A	TCGA-HF-7132-01A-11D-2053-08	701911	16620329	42508654	1287	125215											
ANKLE1	126549	broad.mit.edu	37	chr19	17394394	17394394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaactgaatgcccGtctgcaggccctgactctga	13	12	2	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:17394394G>A	uc002nga.2	+	5	1097	c.821G>A	c.(820-822)CGT>CAT	p.R274H	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.R296H|ANKLE1_uc010xpn.1_Missense_Mutation_p.R328H|ANKLE1_uc002nfy.2_Missense_Mutation_p.R263H|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	274						nuclear envelope					0						CTGAATGCCCGTCTGCAGGCC	0.612													A	17394394	G	A	17394394	3	1	250	1	0	0	0	0	1	0	0	0	632	1145	40	1	839	1	ANKLE1	19	17394394	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	774065	17394394	41734589	1288	125216											
UNC13A	23025	broad.mit.edu	37	chr19	17780379	17780379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctaagggtagctcaaagCgcgtgtccaggaggatgcgg	15	10	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:17780379C>T	uc002nhd.2	-	6	641	c.641G>A	c.(640-642)CGC>CAC	p.R214H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	126					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						TAGCTCAAAGCGCGTGTCCAG	0.612													T	17780379	C	T	17780379	3	4	250	1	0	0	0	0	1	0	0	0	16981	768	27	1	4886	1	UNC13A	19	17780379	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	385985	17780379	41348604	1289	125217											
MAP1S	55201	broad.mit.edu	37	chr19	17838443	17838443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgagcatcgcaaggcGgtgccaatggcaccggcacc	13	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:17838443G>A	uc002nhe.1	+	5	2259	c.2250G>A	c.(2248-2250)GCG>GCA	p.A750A	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Silent_p.A724A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	750	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				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			central_nervous_system(1)	1						ATCGCAAGGCGGTGCCAATGG	0.697													A	17838443	G	A	17838443	2	1	250	1	0	0	0	0	0	0	0	1	9234	1103	39	1		1	MAP1S	19	17838443	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	58064	17838443	41290540	1290	125218											
MAST3	23031	broad.mit.edu	37	chr19	18256012	18256012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacatgggtgatagcgaCgtctacactgtgcaccacgt	11	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18256012C>T	uc002nhz.3	+	23	2925	c.2925C>T	c.(2923-2925)GAC>GAT	p.D975D		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	975	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GTGATAGCGACGTCTACACTG	0.617													T	18256012	C	T	18256012	2	4	250	1	0	0	0	0	0	0	0	1	9326	535	19	1		1	MAST3	19	18256012	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	417569	18256012	40872971	1291	125219											
PDE4C	5143	broad.mit.edu	37	chr19	18321983	18321983	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttgctctggtaccacTctcgattgtcctccagcgtg	10	13	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18321983T>G	uc010xqc.1	-	15	2375	c.1895A>C	c.(1894-1896)GAG>GCG	p.E632A	PDE4C_uc002nik.3_Missense_Mutation_p.E632A|PDE4C_uc002nil.3_Missense_Mutation_p.E632A|PDE4C_uc002nif.3_Missense_Mutation_p.E401A|PDE4C_uc002nig.3_Missense_Mutation_p.E347A|PDE4C_uc002nih.3_Missense_Mutation_p.E402A|PDE4C_uc010ebk.2_Missense_Mutation_p.E526A|PDE4C_uc002nii.3_Missense_Mutation_p.E600A|PDE4C_uc010ebl.2_Missense_Mutation_p.E346A	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	632					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	CTGGTACCACTCTCGATTGTC	0.547													G	18321983	T	G	18321983	3	3	250	1	0	0	0	0	1	0	0	0	11641	1551	54	5	247	5	PDE4C	19	18321983	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	65971	18321983	40807000	1292	125220											
LRRC25	126364	broad.mit.edu	37	chr19	18502805	18502805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcttaggctcagtgccCggggatcacgtactcctctt	10	13	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18502805C>T	uc002niw.2	-	2	1552	c.910G>A	c.(910-912)GGG>AGG	p.G304R	LRRC25_uc002nix.2_Missense_Mutation_p.G304R	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	304	Cytoplasmic (Potential).					integral to membrane					0						GCTCAGTGCCCGGGGATCACG	0.428													T	18502805	C	T	18502805	3	4	250	1	0	0	0	0	1	0	0	0	8980	652	23	1	11	1	LRRC25	19	18502805	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	180822	18502805	40626178	1293	125221											
CRTC1	23373	broad.mit.edu	37	chr19	18887993	18887994	+	Frame_Shift_Ins	INS	-	-	C													cccccagtgacaggagagtcINScccccccagcctctctaaag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:18887992_18887993T>TC	uc010ebv.3	+	14	1841_1842	c.1753_1754T>TC	c.(1753-1755)tccfs	p.S585fs	CRTC1_uc002nkb.4_Frame_Shift_Ins_p.S569fs|CRTC1_uc010ebw.3_Frame_Shift_Ins_p.S405fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	569					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	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GACAGGAGAGTCCCCCCCCAGC	0.639													C	18887994	-	C	18887993	7	5	250	1	0	1	1	0	0	0	0	0	3899	855	30	0	1812	0	CRTC1	19	18887993	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	385188	18887993	40240990	1294	125222											
TSSK6	83983	broad.mit.edu	37	chr19	19625901	19625901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcgcaaagaggtcgcgCgcctgaactccggggatgcg	15	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:19625901C>T	uc002nmr.2	-	1	569	c.336G>A	c.(334-336)GCG>GCA	p.A112A	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	112	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						AGAGGTCGCGCGCCTGAACTC	0.657													T	19625901	C	T	19625901	2	4	250	1	0	0	0	0	0	0	0	1	16669	755	27	1		1	TSSK6	19	19625901	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	737908	19625901	39503082	1295	125223											
C19orf2	8725	broad.mit.edu	37	chr19	30502126	30502126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgccgaccatcaggacGcctgcagacatttacaggtg	12	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:30502126G>A	uc002nsr.2	+	9	1191	c.1161G>A	c.(1159-1161)ACG>ACA	p.T387T	C19orf2_uc002nsq.2_Silent_p.T369T|C19orf2_uc002nss.2_Silent_p.T347T|C19orf2_uc002nst.2_Silent_p.T311T	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	387					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		CCATCAGGACGCCTGCAGACA	0.522													A	30502126	G	A	30502126	2	1	250	1	0	0	0	0	0	0	0	1	1911	1074	38	1		1	C19orf2	19	30502126	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	10876225	30502126	28626857	1296	125224											
ZNF536	9745	broad.mit.edu	37	chr19	30935293	30935293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccggcggcgggcttccGctgtaccttctgcaagggca	15	15	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:30935293G>A	uc002nsu.1	+	2	962	c.824G>A	c.(823-825)CGC>CAC	p.R275H	ZNF536_uc010edd.1_Missense_Mutation_p.R275H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	275	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCGGGCTTCCGCTGTACCTTC	0.667													A	30935293	G	A	30935293	3	1	250	1	0	0	0	0	1	0	0	0	17971	1087	38	1	826	1	ZNF536	19	30935293	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	433167	30935293	28193690	1297	125225											
TSHZ3	57616	broad.mit.edu	37	chr19	31770656	31770656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaactcttcggaaacatAggctgccatgataacaggtg	9	9	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:31770656A>G	uc002nsy.3	-	2	108	c.43T>C	c.(43-45)TAT>CAT	p.Y15H		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	15					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TCGGAAACATAGGCTGCCATG	0.368													G	31770656	A	G	31770656	3	3	250	1	0	0	0	0	1	0	0	0	16622	420	15	3	3206	3	TSHZ3	19	31770656	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	835363	31770656	27358327	1298	125226											
SLC7A10	56301	broad.mit.edu	37	chr19	33703794	33703794	+	Frame_Shift_Del	DEL	G	G	-													agcacccgggaggctgtggtGggggggatgcagttggggaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:33703793_33703793TG>T	uc002num.2	-	2	619	c.472_472CA>A	c.(472-474)accfs	p.T158fs	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Frame_Shift_Del_p.T131fs	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	158					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)					GAGGCTGTGGTGGGGGGGATG	0.637													-	33703794	G	-	33703794	7	5	250	1	0	1	0	1	0	0	0	0	14693	1335	47	0	1136	0	SLC7A10	19	33703794	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1933138	33703794	25425189	1299	125227											
GRAMD1A	57655	broad.mit.edu	37	chr19	35504571	35504571	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgcccaacctttcccgAgccagcagcgacgcagacca	9	18	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:35504571A>C	uc010xse.1	+	9	983	c.846A>C	c.(844-846)CGA>CGC	p.R282R	GRAMD1A_uc002nxi.1_Silent_p.R369R|GRAMD1A_uc002nxk.2_Silent_p.R275R|GRAMD1A_uc002nxl.2_Silent_p.R48R|GRAMD1A_uc010xsf.1_Silent_p.R287R|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	282						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCTTTCCCGAGCCAGCAGCG	0.652													C	35504571	A	C	35504571	2	2	250	1	0	0	0	0	0	0	0	1	6747	291	11	5		5	GRAMD1A	19	35504571	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1800777	35504571	23624412	1300	125228											
COX6B1	1340	broad.mit.edu	37	chr19	36149497	36149497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacactgtctttccacaggTcacagactgggatgagcaac	9	11	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:36149497T>C	uc002oav.2	+	4	371	c.209T>C	c.(208-210)GTC>GCC	p.V70A		NM_001863	NP_001854	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1	70					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity				0	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)			TTTCCACAGGTCACAGACTGG	0.493													C	36149497	T	C	36149497	3	2	250	1	0	0	0	0	1	0	0	0	3776	1681	58	3	219	3	COX6B1	19	36149497	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	644926	36149497	22979486	1301	125229											
U2AF1L4	199746	broad.mit.edu	37	chr19	36234928	36234928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataccccatctcatactggCgacagcatgactcccggaag	8	15	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:36234928C>T	uc002obg.2	-	5	482	c.173G>A	c.(172-174)CGC>CAC	p.R58H	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_Intron|U2AF1L4_uc002obe.2_Missense_Mutation_p.R117H|U2AF1L4_uc002obf.2_Intron|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	156	C3H1-type 2.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATACTGGCGACAGCATGA	0.577													T	36234928	C	T	36234928	3	4	250	1	0	0	0	0	1	0	0	0	16819	768	27	1	328	1	U2AF1L4	19	36234928	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	85431	36234928	22894055	1302	125230											
KIRREL2	84063	broad.mit.edu	37	chr19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-													aacccacacctgggcatggtCcccccctgcagactttacag							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627													-	36357214	C	-	36357214	7	5	250	1	0	1	0	1	0	0	0	0	8325	842	30	0	2005	0	KIRREL2	19	36357214	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	122286	36357214	22771769	1303	125231											
ZNF569	148266	broad.mit.edu	37	chr19	37903917	37903917	+	Frame_Shift_Del	DEL	T	T	-													atttatcacattcataaggcTtttcccctgtatgacttctc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:37903917delT	uc002ogi.2	-	6	2201	c.1643delA	c.(1642-1644)AAGfs	p.K548fs	ZNF569_uc002ogh.2_Frame_Shift_Del_p.K389fs|ZNF569_uc002ogj.2_Frame_Shift_Del_p.K572fs	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCATAAGGCTTTTCCCCTGT	0.388													-	37903917	T	-	37903917	7	5	250	1	0	1	0	1	0	0	0	0	17997	1609	56	0	421	0	ZNF569	19	37903917	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	1546703	37903917	21225066	1304	125232											
SPINT2	10653	broad.mit.edu	37	chr19	38782560	38782560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctgatccgggtggcaCggaggaaccaggagcgtgcc	15	12	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:38782560C>T	uc002ohr.1	+	7	1004	c.673C>T	c.(673-675)CGG>TGG	p.R225W	SPINT2_uc002ohs.1_Missense_Mutation_p.R168W	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	225	Cytoplasmic (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGGGTGGCACGGAGGAACCA	0.622													T	38782560	C	T	38782560	3	4	250	1	0	0	0	0	1	0	0	0	15068	527	19	1	699	1	SPINT2	19	38782560	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	878643	38782560	20346423	1305	125233											
RYR1	6261	broad.mit.edu	37	chr19	38937165	38937165	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggacatatggatgagTgtctgaccatttcccctgct	9	10	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:38937165T>G	uc002oit.2	+	8	815	c.685T>G	c.(685-687)TGT>GGT	p.C229G	RYR1_uc002oiu.2_Missense_Mutation_p.C229G	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	229	MIR 3.|Cytoplasmic.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TATGGATGAGTGTCTGACCAT	0.617													G	38937165	T	G	38937165	3	3	250	1	0	0	0	0	1	0	0	0	13768	1696	59	5	715	5	RYR1	19	38937165	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	154605	38937165	20191818	1306	125234											
SARS2	54938	broad.mit.edu	37	chr19	39435738	39435738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcagttctctcgagcGccccacctgccaggcagcag	11	18	1	0	rs138216167		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:39435738G>A	uc010xuq.1	-	4	277	c.69C>T	c.(67-69)GGC>GGT	p.G23G	FBXO17_uc002okg.1_Silent_p.G188G|FBXO17_uc002okf.1_Silent_p.G197G	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	Error:Variant_position_missing_in_Q9NP81_after_alignment					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	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)			TCTCTCGAGCGCCCCACCTGC	0.627													A	39435738	G	A	39435738	2	1	250	1	0	0	0	0	0	0	0	1	13845	1074	38	1		1	SARS2	19	39435738	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	498573	39435738	19693245	1307	125235											
FBL	2091	broad.mit.edu	37	chr19	40331067	40331067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccctcatgccgatgCggctccaccatcacattctt	5	18	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40331067C>T	uc002omn.2	-	3	384	c.270G>A	c.(268-270)CCG>CCA	p.P90P	FBL_uc002omm.1_Silent_p.P4P|FBL_uc002omo.2_Silent_p.P89P|FBL_uc010egr.2_Silent_p.P90P	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	90					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGCCGATGCGGCTCCACCA	0.622													T	40331067	C	T	40331067	2	4	250	1	0	0	0	0	0	0	0	1	5696	755	27	1		1	FBL	19	40331067	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	895329	40331067	18797916	1308	125236											
ZNF546	339327	broad.mit.edu	37	chr19	40512087	40512088	+	Frame_Shift_Ins	INS	-	-	A													tggttctaaaaccatggccaINSatgtaagtttgtgtttttct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40512086_40512087C>CA	uc002oms.2	+	3	424_425	c.168_169C>CA	c.(166-171)gccaatfs	p.A56fs	ZNF546_uc002omt.2_Frame_Shift_Ins_p.A30fs	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	56					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)					AAACCATGGCCAATGTAAGTTT	0.421													A	40512088	-	A	40512087	7	5	250	1	0	1	1	0	0	0	0	0	17975	130	5	0	175	0	ZNF546	19	40512087	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	181020	40512087	18616896	1309	125237											
ZNF780B	163131	broad.mit.edu	37	chr19	40541351	40541351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattctttacattcaaagGgtttcccaccagtatgaatt	5	10	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40541351G>A	uc002omu.2	-	5	1480	c.1415C>T	c.(1414-1416)CCC>CTC	p.P472L	ZNF780B_uc002omv.2_Missense_Mutation_p.P324L	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCAAAGGGTTTCCCACC	0.388													A	40541351	G	A	40541351	3	1	250	1	0	0	0	0	1	0	0	0	18150	1232	43	4	1090	4	ZNF780B	19	40541351	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	29264	40541351	18587632	1310	125238											
C19orf47	126526	broad.mit.edu	37	chr19	40829912	40829912	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctcccccatccccactcaCtttactccctgtcgtggtgt	6	19	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40829912C>A	uc002oni.3	-	8	775	c.774_splice	c.e8+1	p.K258_splice	C19orf47_uc002ong.2_Splice_Site_p.K117_splice|C19orf47_uc002onh.2_Splice_Site_p.K191_splice	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526											ovary(1)|skin(1)	2			Lung(22;0.000636)			TCCCCACTCACTTTACTCCCT	0.597													A	40829912	C	A	40829912	5	1	250	1	0	0	0	0	0	0	1	0	1930	579	20	5	501	5	C19orf47	19	40829912	Splice_Site	SNP	C	TCGA-HF-7132-01A-11D-2053-08	288561	40829912	18299071	1311	125239											
HIPK4	147746	broad.mit.edu	37	chr19	40889748	40889748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggggttggcagcgtcaGggtgggggttgcgcttgaag	21	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:40889748G>T	uc002onp.2	-	2	1049	c.764C>A	c.(763-765)CCT>CAT	p.P255H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	255	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGCAGCGTCAGGGTGGGGGTT	0.632													T	40889748	G	T	40889748	3	4	250	1	0	0	0	0	1	0	0	0	7119	1000	35	5	1098	5	HIPK4	19	40889748	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	59836	40889748	18239235	1312	125240											
CYP2A6	1548	broad.mit.edu	37	chr19	41356252	41356252	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttccccttgctcttcCtctgctgccaaacagacatc	6	17	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41356252C>G	uc002opl.3	-	1	101	c.80G>C	c.(79-81)AGG>ACG	p.R27T	CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	27					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTTGCTCTTCCTCTGCTGCCA	0.542													G	41356252	C	G	41356252	3	3	250	1	0	0	0	0	1	0	0	0	4162	681	24	5	1440	5	CYP2A6	19	41356252	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	466504	41356252	17772731	1313	125241											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41808818	41808818	+	Frame_Shift_Del	DEL	G	G	-													gtggcggcttccagaaccgaGggggaggcagcggtggagga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41808817_41808817AG>A	uc002oqb.4	+	11	2224	c.1935_1935AG>A	c.(1933-1935)cgafs	p.R645fs	HNRNPUL1_uc002opz.4_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc002oqa.4_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010ehm.3_Frame_Shift_Del_p.R645fs|HNRNPUL1_uc002oqc.4_Frame_Shift_Del_p.R531fs|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010ehn.3_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010xvy.2_Frame_Shift_Del_p.R545fs|HNRNPUL1_uc010ehp.3_Frame_Shift_Del_p.R501fs|HNRNPUL1_uc002oqf.4_Frame_Shift_Del_p.R169fs	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	645	5 X 3 AA repeats of R-G-G.|Gly-rich.|Necessary for interaction with TP53.|Necessary for transcription repression.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme 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						TCCAGAACCGAGGGGGAGGCA	0.642													-	41808818	G	-	41808818	7	5	250	1	0	1	0	1	0	0	0	0	7274	1000	35	0	1982	0	HNRNPUL1	19	41808818	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	452566	41808818	17320165	1314	125242											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41811722	41811722	+	Frame_Shift_Del	DEL	C	C	-													ccccctataccccaccgccaCcccccactgcacagacctac							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41811721_41811721AC>A	uc002oqb.4	+	13	2692	c.2403_2403AC>A	c.(2401-2403)ccafs	p.P801fs	HNRNPUL1_uc002opz.4_Frame_Shift_Del_p.P701fs|HNRNPUL1_uc002oqa.4_Frame_Shift_Del_p.P711fs|HNRNPUL1_uc010ehm.3_Intron|HNRNPUL1_uc002oqc.4_Frame_Shift_Del_p.P697fs|HNRNPUL1_uc002oqe.4_Frame_Shift_Del_p.P110fs|HNRNPUL1_uc002oqd.4_Frame_Shift_Del_p.P701fs|HNRNPUL1_uc010ehn.3_Frame_Shift_Del_p.P711fs|HNRNPUL1_uc010xvy.2_Frame_Shift_Del_p.P701fs|HNRNPUL1_uc010ehp.3_Intron|HNRNPUL1_uc002oqf.4_Frame_Shift_Del_p.P335fs	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	801	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding	p.P800P(1)		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						CCCCACCGCCACCCCCCACTG	0.637													-	41811722	C	-	41811722	7	5	250	1	0	1	0	1	0	0	0	0	7274	507	18	0	2458	0	HNRNPUL1	19	41811722	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	2904	41811722	17317261	1315	125243											
CCDC97	90324	broad.mit.edu	37	chr19	41822684	41822684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggcactgcccggcccCgcaccctgcgtacccgcctg	13	20	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:41822684C>A	uc002oqg.2	+	2	564	c.442C>A	c.(442-444)CGC>AGC	p.R148S	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	148											0						TGCCCGGCCCCGCACCCTGCG	0.677													A	41822684	C	A	41822684	3	1	250	1	0	0	0	0	1	0	0	0	2875	652	23	5	448	5	CCDC97	19	41822684	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	10962	41822684	17306299	1316	125244											
ZNF230	7773	broad.mit.edu	37	chr19	44513052	44513052	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatgcttgagaacttcacGaacctgctgtcagtgggtga	13	8	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:44513052G>A	uc002oyb.1	+	3	377	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				AGAACTTCACGAACCTGCTGT	0.517													A	44513052	G	A	44513052	2	1	250	1	0	0	0	0	0	0	0	1	17781	1045	37	1		1	ZNF230	19	44513052	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2690368	44513052	14615931	1317	125245											
CLPTM1	1209	broad.mit.edu	37	chr19	45480718	45480718	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagtccacatgtcccggaGtaagtcgctcccctgcagcc	9	17	0	0	rs111806238		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:45480718G>T	uc002pai.2	+	5	601	c.586_splice	c.e5+1	p.M196_splice	CLPTM1_uc010ejv.1_Splice_Site_p.M94_splice|CLPTM1_uc010xxf.1_Splice_Site_p.M94_splice|CLPTM1_uc010xxg.1_Splice_Site_p.M182_splice	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane						cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGTCCCGGAGTAAGTCGCTC	0.622													T	45480718	G	T	45480718	5	4	250	1	0	0	0	0	0	0	1	0	3554	1043	36	5	605	5	CLPTM1	19	45480718	Splice_Site	SNP	G	TCGA-HF-7132-01A-11D-2053-08	967666	45480718	13648265	1318	125246											
SFRS16	11129	broad.mit.edu	37	chr19	45570838	45570838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgtcccctgctgtgggCgagaagctgaaaaagtgagc	15	11	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:45570838C>T	uc002pak.2	+	14	1751	c.1653C>T	c.(1651-1653)GGC>GGT	p.G551G	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.G489G|SFRS16_uc002pam.2_Silent_p.G551G	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	551	Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGCTGTGGGCGAGAAGCTGA	0.468													T	45570838	C	T	45570838	2	4	250	1	0	0	0	0	0	0	0	1	14172	755	27	1		1	SFRS16	19	45570838	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	90120	45570838	13558145	1319	125247											
CD3EAP	10849	broad.mit.edu	37	chr19	45912137	45912137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggatggagccagaggaggGggtgacagttgagtctcagc	19	6	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:45912137G>T	uc002pbq.1	+	3	1399	c.911G>T	c.(910-912)GGG>GTG	p.G304V	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.G306V	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	304					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCAGAGGAGGGGGTGACAGTT	0.537													T	45912137	G	T	45912137	3	4	250	1	0	0	0	0	1	0	0	0	3012	1232	43	5	921	5	CD3EAP	19	45912137	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	341299	45912137	13216846	1320	125248											
GIPR	2696	broad.mit.edu	37	chr19	46177354	46177354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggctcatcttggagcGgttgcaggtcatgtacactg	12	10	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:46177354G>A	uc002pcu.1	+	6	506	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	GIPR_uc002pct.1_Missense_Mutation_p.R136Q|GIPR_uc010xxp.1_Missense_Mutation_p.R100Q|GIPR_uc010xxq.1_RNA|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	136	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		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)		ATCTTGGAGCGGTTGCAGGTC	0.582													A	46177354	G	A	46177354	3	1	250	1	0	0	0	0	1	0	0	0	6395	1116	39	1	425	1	GIPR	19	46177354	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	265217	46177354	12951629	1321	125249											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522823	46522823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgccaatggacatggGgttccataagtgacctgagt	13	8	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:46522823G>T	uc002pdx.1	-	2	414	c.370C>A	c.(370-372)CCC>ACC	p.P124T		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	124					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			ovary(2)	2		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)		ATGGACATGGGGTTCCATAAG	0.592													T	46522823	G	T	46522823	3	4	250	1	0	0	0	0	1	0	0	0	11793	1232	43	5	228	5	PGLYRP1	19	46522823	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	345469	46522823	12606160	1322	125250											
MEIS3	56917	broad.mit.edu	37	chr19	47918126	47918127	+	Splice_Site	INS	-	-	G													tcgcacaggtcgtggacctgINSggggggcaccggggtactgg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:47918125_47918126T>TG	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		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)		GTCGTGGACCTGGGGGGGCACC	0.683													G	47918127	-	G	47918126	8	5	250	1	0	1	1	0	0	0	1	0	9469	1363	47	0		0	MEIS3	19	47918126	Splice_Site	INS	-	TCGA-HF-7132-01A-11D-2053-08	1395303	47918126	11210857	1323	125251											
CGB7	94027	broad.mit.edu	37	chr19	49557610	49557610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggacttggaaggctggGgggaggggcctttgaggaag	22	4	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:49557610G>A	uc002pmd.2	-	3	801	c.436C>T	c.(436-438)CCC>TCC	p.P146S	CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.P146S	NM_033142	NP_149133	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	146					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GGAAGGCTGGGGGGAGGGGCC	0.642													A	49557610	G	A	49557610	3	1	250	1	0	0	0	0	1	0	0	0	3300	1232	43	4	65	4	CGB7	19	49557610	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1639484	49557610	9571373	1324	125252											
SLC17A7	57030	broad.mit.edu	37	chr19	49939837	49939837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcccccgcggtgggtcGtgctgttattgaccatggag	16	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:49939837G>A	uc002pnp.2	-	2	456	c.284C>T	c.(283-285)ACG>ATG	p.T95M	SLC17A7_uc002pnq.1_Missense_Mutation_p.T28M	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	95	Extracellular (Potential).				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			ovary(1)|pancreas(1)|skin(1)	3		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)		GCGGTGGGTCGTGCTGTTATT	0.642													A	49939837	G	A	49939837	3	1	250	1	0	0	0	0	1	0	0	0	14422	1145	40	1	1442	1	SLC17A7	19	49939837	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	382227	49939837	9189146	1325	125253											
PRR12	57479	broad.mit.edu	37	chr19	50128211	50128211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccctacaaccgcaagacGctcagcaagctcaagaggag	10	13	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:50128211G>A	uc002poo.3	+	12	5832	c.5832G>A	c.(5830-5832)ACG>ACA	p.T1944T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1123							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCGCAAGACGCTCAGCAAGC	0.667													A	50128211	G	A	50128211	2	1	250	1	0	0	0	0	0	0	0	1	12584	1074	38	1		1	PRR12	19	50128211	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	188374	50128211	9000772	1326	125254											
MYBPC2	4606	broad.mit.edu	37	chr19	50961933	50961933	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagccagaatcctcttcCgagtagttggggtcaacatc	11	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:50961933C>T	uc002psf.2	+	21	2479	c.2428C>T	c.(2428-2430)CGA>TGA	p.R810*		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	810	Fibronectin type-III 2.				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)		AATCCTCTTCCGAGTAGTTGG	0.667													T	50961933	C	T	50961933	4	4	250	1	0	0	0	0	0	1	0	0	10012	644	23	1	2510	1	MYBPC2	19	50961933	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	833722	50961933	8167050	1327	125255											
KLK15	55554	broad.mit.edu	37	chr19	51330155	51330155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaccgggggctcccagCggtcccaggctcgttgtggg	17	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:51330155C>T	uc002ptl.2	-	3	491	c.460G>A	c.(460-462)GCT>ACT	p.A154T	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.A154T|KLK15_uc002pto.2_Missense_Mutation_p.A153T|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.A153T|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	154	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGGCTCCCAGCGGTCCCAGGC	0.692													T	51330155	C	T	51330155	3	4	250	1	0	0	0	0	1	0	0	0	8403	768	27	1	322	1	KLK15	19	51330155	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	368222	51330155	7798828	1328	125256											
KLK5	25818	broad.mit.edu	37	chr19	51455908	51455908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaggggggtcttgctgtAgccatggccgctgcacctgg	15	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:51455908A>G	uc002pue.2	-	3	224	c.6T>C	c.(4-6)GCT>GCC	p.A2A	KLK5_uc002puf.2_Silent_p.A2A|KLK5_uc002pug.2_Silent_p.A2A	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	2					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTCTTGCTGTAGCCATGGCCG	0.617													G	51455908	A	G	51455908	2	3	250	1	0	0	0	0	0	0	0	1	8407	407	15	3		3	KLK5	19	51455908	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	125753	51455908	7673075	1329	125257											
SIGLEC7	27036	broad.mit.edu	37	chr19	51645721	51645721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactcgctgacgatgcagaGttccgtgaccgtgcaagagg	13	10	0	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:51645721G>A	uc002pvv.1	+	1	164	c.95G>A	c.(94-96)AGT>AAT	p.S32N	SIGLEC7_uc002pvw.1_Missense_Mutation_p.S32N|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.S32N	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	32	Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACGATGCAGAGTTCCGTGACC	0.493													A	51645721	G	A	51645721	3	1	250	1	0	0	0	0	1	0	0	0	14313	1029	36	4	97	4	SIGLEC7	19	51645721	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	189813	51645721	7483262	1330	125258											
SIGLEC6	946	broad.mit.edu	37	chr19	52034722	52034722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacagaccctcctgcaccGtcagtgactctggcccctcc	8	20	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:52034722G>A	uc002pwy.2	-	2	281	c.119C>T	c.(118-120)ACG>ATG	p.T40M	SIGLEC6_uc002pwz.2_Missense_Mutation_p.T40M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.T40M|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.T29M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.T29M|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Missense_Mutation_p.T29M	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	40	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTCCTGCACCGTCAGTGACTC	0.627													A	52034722	G	A	52034722	3	1	250	1	0	0	0	0	1	0	0	0	14312	1145	40	1	1303	1	SIGLEC6	19	52034722	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	389001	52034722	7094261	1331	125259											
ZNF836	162962	broad.mit.edu	37	chr19	52658932	52658932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggctttgccacaatcattAcatttgtaaggtttctctcc	6	10	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:52658932A>G	uc010ydi.1	-	5	2378	c.2004T>C	c.(2002-2004)TGT>TGC	p.C668C	ZNF836_uc010ydj.1_Silent_p.C668C	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	668	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACAATCATTACATTTGTAAG	0.413													G	52658932	A	G	52658932	2	3	250	1	0	0	0	0	0	0	0	1	18184	389	14	3		3	ZNF836	19	52658932	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	624210	52658932	6470051	1332	125260											
ZNF480	147657	broad.mit.edu	37	chr19	52825457	52825457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaccttacaaatgtaaTgaatgtggtaaaggcttcag	10	5	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:52825457T>C	uc010ydl.1	+	5	1024	c.954T>C	c.(952-954)AAT>AAC	p.N318N	ZNF480_uc002pyv.2_Silent_p.N241N|ZNF480_uc010ydm.1_Silent_p.N275N|ZNF480_uc010epn.2_Silent_p.N149N|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	318	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACAAATGTAATGAATGTGGTA	0.368													C	52825457	T	C	52825457	2	2	250	1	0	0	0	0	0	0	0	1	17932	1461	51	3		3	ZNF480	19	52825457	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	166525	52825457	6303526	1333	125261											
ZNF160	90338	broad.mit.edu	37	chr19	53571638	53571638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggtggttaggcttgaacGaacactgaaggctttcccac	12	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:53571638G>A	uc010eqk.2	-	7	2565	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C	ZNF160_uc002qaq.3_Missense_Mutation_p.R717C|ZNF160_uc002qar.3_Missense_Mutation_p.R717C	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	717	C2H2-type 17.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		AGGCTTGAACGAACACTGAAG	0.448													A	53571638	G	A	53571638	3	1	250	1	0	0	0	0	1	0	0	0	17736	1058	37	1	311	1	ZNF160	19	53571638	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	746181	53571638	5557345	1334	125262											
ZNF331	55422	broad.mit.edu	37	chr19	54080826	54080826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggaaggcctttcgcTggggttcgagcctcgttaag	16	8	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:54080826T>G	uc002qbx.1	+	7	2446	c.1012T>G	c.(1012-1014)TGG>GGG	p.W338G	ZNF331_uc002qby.1_Missense_Mutation_p.W338G|ZNF331_uc002qbz.1_Missense_Mutation_p.W338G|ZNF331_uc002qca.1_Missense_Mutation_p.W338G|ZNF331_uc010eqr.1_Missense_Mutation_p.W338G|ZNF331_uc002qcb.1_Missense_Mutation_p.W338G|ZNF331_uc002qcc.1_Missense_Mutation_p.W338G|ZNF331_uc002qcd.1_Missense_Mutation_p.W338G	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	338	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GGCCTTTCGCTGGGGTTCGAG	0.522			T	?	follicular thyroid adenoma								G	54080826	T	G	54080826	3	3	250	1	0	0	0	0	1	0	0	0	17846	1580	55	5	1022	5	ZNF331	19	54080826	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	509188	54080826	5048157	1335	125263											
LAIR1	3903	broad.mit.edu	37	chr19	54872627	54872627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacttactgagtcaatgCggaatctggcctctgactca	8	12	5	2	rs146444027	by1000genomes	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:54872627C>T	uc002qfk.1	-	3	570	c.260G>A	c.(259-261)CGC>CAC	p.R87H	LAIR1_uc002qfl.1_Missense_Mutation_p.R87H|LAIR1_uc002qfm.1_Missense_Mutation_p.R86H|LAIR1_uc002qfn.1_Missense_Mutation_p.R86H|LAIR1_uc010yex.1_Missense_Mutation_p.R80H|LAIR1_uc002qfo.2_Missense_Mutation_p.R69H	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	87	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGAGTCAATGCGGAATCTGGC	0.498													T	54872627	C	T	54872627	3	4	250	1	0	0	0	0	1	0	0	0	8602	768	27	1	635	1	LAIR1	19	54872627	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	791801	54872627	4256356	1336	125264											
KIR3DL1	3811	broad.mit.edu	37	chr19	55377854	55377854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatggaccaagagcctgcgGgggacagaacagtgaatagg	15	7	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:55377854G>T	uc002qhl.3	+	8	1198	c.1135G>T	c.(1135-1137)GGG>TGG	p.G379W	KIR3DL2_uc010esh.2_Missense_Mutation_p.G362W|KIR3DL2_uc002qho.3_Missense_Mutation_p.G379W			P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	379	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		AGAGCCTGCGGGGGACAGAAC	0.542													T	55377854	G	T	55377854	3	4	250	1	0	0	0	0	1	0	0	0	8320	1232	43	5		5	KIR3DL1	19	55377854	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	505227	55377854	3751129	1337	125265											
RDH13	112724	broad.mit.edu	37	chr19	55570558	55570558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaggcggtctgcttccCgatgcctgtgttggcacccg	12	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:55570558C>T	uc002qio.3	-	2	336	c.151G>A	c.(151-153)GGG>AGG	p.G51R	RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_Intron	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	51	NAD or NADP (By similarity).						binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GTCTGCTTCCCGATGCCTGTG	0.478													T	55570558	C	T	55570558	3	4	250	1	0	0	0	0	1	0	0	0	13192	652	23	1	868	1	RDH13	19	55570558	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	192704	55570558	3558425	1338	125266											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607662	55607662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctagagggcgcttggggCtcctggccccggctctggga	17	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:55607662C>T	uc002qix.2	-	7	1009	c.993G>A	c.(991-993)GAG>GAA	p.E331E	PPP1R12C_uc010yfs.1_Silent_p.E257E|PPP1R12C_uc002qiy.2_Silent_p.E331E	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	331						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGCTTGGGGCTCCTGGCCCC	0.657													T	55607662	C	T	55607662	2	4	250	1	0	0	0	0	0	0	0	1	12356	796	28	2		2	PPP1R12C	19	55607662	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	37104	55607662	3521321	1339	125267											
NLRP13	126204	broad.mit.edu	37	chr19	56416401	56416401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattaaatcccaggcacaatCgagttacgtgttggatgctg	11	8	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:56416401C>T	uc010ygg.1	-	8	2550	c.2525G>A	c.(2524-2526)CGA>CAA	p.R842Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	842	LRR 3.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGGCACAATCGAGTTACGTG	0.522													T	56416401	C	T	56416401	3	4	250	1	0	0	0	0	1	0	0	0	10475	884	31	1	620	1	NLRP13	19	56416401	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	808739	56416401	2712582	1340	125268											
NLRP8	126205	broad.mit.edu	37	chr19	56487605	56487605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taagttttaatagcctgaagGatgatggggtgatcctgctg	13	5	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:56487605G>T	uc002qmh.2	+	8	2883	c.2812G>T	c.(2812-2814)GAT>TAT	p.D938Y	NLRP8_uc010etg.2_Missense_Mutation_p.D919Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	938	LRR 5.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAGCCTGAAGGATGATGGGGT	0.463													T	56487605	G	T	56487605	3	4	250	1	0	0	0	0	1	0	0	0	10483	1174	41	5	2842	5	NLRP8	19	56487605	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	71204	56487605	2641378	1341	125269											
ZNF583	147949	broad.mit.edu	37	chr19	56935008	56935008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagacctttcgaatgtatTgaatgtggaaaggcctttag	12	5	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:56935008T>C	uc010ygl.1	+	5	1146	c.981T>C	c.(979-981)ATT>ATC	p.I327I	ZNF583_uc002qnc.2_Silent_p.I327I|ZNF583_uc010ygm.1_Silent_p.I327I	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	327	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCGAATGTATTGAATGTGGAA	0.408													C	56935008	T	C	56935008	2	2	250	1	0	0	0	0	0	0	0	1	18012	1800	63	3		3	ZNF583	19	56935008	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	447403	56935008	2193975	1342	125270											
ZNF71	58491	broad.mit.edu	37	chr19	57133365	57133365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacgagcggatccacaCgggggagaagccctacgcgt	14	14	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:57133365C>T	uc002qnm.3	+	3	948	c.710C>T	c.(709-711)ACG>ATG	p.T237M		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	237						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGATCCACACGGGGGAGAAG	0.652													T	57133365	C	T	57133365	3	4	250	1	0	0	0	0	1	0	0	0	18111	536	19	1	712	1	ZNF71	19	57133365	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	198357	57133365	1995618	1343	125271											
ZNF8	7554	broad.mit.edu	37	chr19	58805558	58805558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggaagggaaggattcccGacagatgctccttatcccac	11	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:58805558G>A	uc002qry.1	+	4	514	c.384G>A	c.(382-384)CCG>CCA	p.P128P	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		AAGGATTCCCGACAGATGCTC	0.537													A	58805558	G	A	58805558	2	1	250	1	0	0	0	0	0	0	0	1	18164	1045	37	1		1	ZNF8	19	58805558	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1672193	58805558	323425	1344	125272											
ZNF132	7691	broad.mit.edu	37	chr19	58946494	58946494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttggtggaaggatctGcattagggatcctgacctgt	12	8	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:58946494G>A	uc002qst.3	-	3	718	c.317C>T	c.(316-318)GCA>GTA	p.A106V		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	106	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		GGAAGGATCTGCATTAGGGAT	0.488													A	58946494	G	A	58946494	3	1	250	1	0	0	0	0	1	0	0	0	17719	1319	46	2	1807	2	ZNF132	19	58946494	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	140936	58946494	182489	1345	125273											
TRIM28	10155	broad.mit.edu	37	chr19	59060698	59060698	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccctcatcaccaccttgcagGaggaggagacggaggctgcc	13	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr19:59060698G>C	uc002qtg.1	+	13	1952	c.1663G>C	c.(1663-1665)GAG>CAG	p.E555Q	TRIM28_uc010eut.1_Missense_Mutation_p.E473Q|TRIM28_uc002qth.1_Missense_Mutation_p.E170Q	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	555					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		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)		CACCTTGCAGGAGGAGGAGAC	0.572													C	59060698	G	C	59060698	3	2	250	1	0	0	0	0	1	0	0	0	16499	1188	41	5	1713	5	TRIM28	19	59060698	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	114204	59060698	68285	1346	125274											
TRIB3	57761	broad.mit.edu	37	chr20	368740	368740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacttagataccgagcGtcccgtccagaaacgagctc	9	13	0	3	rs142361535	byFrequency	TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:368740G>A	uc002wdm.2	+	2	592	c.86G>A	c.(85-87)CGT>CAT	p.R29H	TRIB3_uc002wdn.2_Missense_Mutation_p.R56H	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	29					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			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GATACCGAGCGTCCCGTCCAG	0.607													A	368740	G	A	368740	3	1	250	1	0	0	0	0	1	0	0	0	16481	1145	40	1	88	1	TRIB3	20	368740	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		368740	62656780	1347	125275											
PTPRA	5786	broad.mit.edu	37	chr20	3003439	3003439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctttgtgagccggatccGggcacagcgctgccagatgg	16	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3003439G>A	uc010zqd.1	+	15	1783	c.1466G>A	c.(1465-1467)CGG>CAG	p.R489Q	PTPRA_uc002whj.2_Missense_Mutation_p.R478Q|PTPRA_uc002whk.2_Missense_Mutation_p.R469Q|PTPRA_uc002whl.2_Missense_Mutation_p.R469Q|PTPRA_uc002whm.2_Missense_Mutation_p.R245Q|PTPRA_uc002whn.2_Missense_Mutation_p.R469Q|PTPRA_uc002who.2_Missense_Mutation_p.R141Q	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	478	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						AGCCGGATCCGGGCACAGCGC	0.547													A	3003439	G	A	3003439	3	1	250	1	0	0	0	0	1	0	0	0	12795	1116	39	1	1483	1	PTPRA	20	3003439	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2634699	3003439	60022081	1348	125276											
SLC4A11	83959	broad.mit.edu	37	chr20	3209181	3209181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgagcagcagggccaCgcgctggacgagctggttgc	15	13	0	1	rs145325200		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3209181C>T	uc002wig.2	-	17	2461	c.2413G>A	c.(2413-2415)GTG>ATG	p.V805M	SLC4A11_uc010zqe.1_Missense_Mutation_p.V832M|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.V789M	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	805	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			ovary(1)	1						AGCAGGGCCACGCGCTGGACG	0.687													T	3209181	C	T	3209181	3	4	250	1	0	0	0	0	1	0	0	0	14652	536	19	1	274	1	SLC4A11	20	3209181	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	205742	3209181	59816339	1349	125277											
SIGLEC1	6614	broad.mit.edu	37	chr20	3669825	3669825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtctctttctgaaaagCcatctccaccgaattctcgc	7	14	4	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3669825C>T	uc002wja.2	-	20	5047	c.5047G>A	c.(5047-5049)GCT>ACT	p.A1683T	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Intron	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1683	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TTCTGAAAAGCCATCTCCACC	0.557													T	3669825	C	T	3669825	3	4	250	1	0	0	0	0	1	0	0	0	14305	739	26	2	90	2	SIGLEC1	20	3669825	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	460644	3669825	59355695	1350	125278											
HSPA12B	116835	broad.mit.edu	37	chr20	3725645	3725645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacagctttggctacacCgcccgcgattactaccatga	7	15	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3725645C>T	uc002wjd.2	+	5	466	c.363C>T	c.(361-363)ACC>ACT	p.T121T	HSPA12B_uc010zqi.1_Silent_p.T121T|HSPA12B_uc002wje.2_Silent_p.T34T|HSPA12B_uc010zqj.1_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	121							ATP binding				0						TTGGCTACACCGCCCGCGATT	0.632													T	3725645	C	T	3725645	2	4	250	1	0	0	0	0	0	0	0	1	7405	639	23	1		1	HSPA12B	20	3725645	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	55820	3725645	59299875	1351	125279											
CENPB	1059	broad.mit.edu	37	chr20	3765886	3765886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaccctcttcctcctcCtcttcttcctcctcctcctc	0	24	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:3765886C>T	uc002wjk.2	-	1	1452	c.1245G>A	c.(1243-1245)GAG>GAA	p.E415E	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	415	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						cttcctcctcctcttcttcct	0.189													T	3765886	C	T	3765886	2	4	250	1	0	0	0	0	0	0	0	1	3227	680	24	4		4	CENPB	20	3765886	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	40241	3765886	59259634	1352	125280											
MCM8	84515	broad.mit.edu	37	chr20	5963723	5963723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggctggtgtggtttgtAgccttcctgcaagaacttcc	11	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:5963723A>G	uc002wmi.2	+	14	2022	c.1645A>G	c.(1645-1647)AGC>GGC	p.S549G	MCM8_uc002wmj.2_Missense_Mutation_p.S533G|MCM8_uc002wmk.2_Missense_Mutation_p.S589G|MCM8_uc002wml.2_Missense_Mutation_p.S549G|MCM8_uc010gbp.2_Missense_Mutation_p.S502G|MCM8_uc002wmm.2_Missense_Mutation_p.S87G	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	549	MCM.				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			skin(1)	1						TGTGGTTTGTAGCCTTCCTGC	0.408													G	5963723	A	G	5963723	3	3	250	1	0	0	0	0	1	0	0	0	9393	420	15	3	1695	3	MCM8	20	5963723	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	2197837	5963723	57061797	1353	125281											
TMX4	56255	broad.mit.edu	37	chr20	7963217	7963217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatctttttcctcctccGcatcctgcaactgttcagct	4	15	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:7963217G>A	uc002wmx.1	-	8	864	c.731C>T	c.(730-732)GCG>GTG	p.A244V		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	244	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						ttcctcctcCGCATCCTGCAA	0.229													A	7963217	G	A	7963217	3	1	250	1	0	0	0	0	1	0	0	0	16266	1087	38	1	322	1	TMX4	20	7963217	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1999494	7963217	55062303	1354	125282											
PCSK2	5126	broad.mit.edu	37	chr20	17208071	17208071	+	Frame_Shift_Del	DEL	G	G	-													ttcttgtggagttgcataaaGggggagaggacaaagctcgc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:17208070_17208070AG>A	uc002wpm.3	+	0	474	c.120_120AG>A	c.(118-120)aaafs	p.K40fs	PCSK2_uc002wpl.3_Frame_Shift_Del_p.K21fs|PCSK2_uc010zrm.2_Frame_Shift_Del_p.K40fs	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	40					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)	AGTTGCATAAAGGGGGAGAGG	0.532													-	17208071	G	-	17208071	7	5	250	1	0	1	0	1	0	0	0	0	11601	1000	35	0	123	0	PCSK2	20	17208071	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	9244854	17208071	45817449	1355	125283											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143375	18143375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgctgttgccatgactcCggaagctcggagactgaaac	13	11	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:18143375C>T	uc002wqj.2	+	7	2079	c.1457C>T	c.(1456-1458)CCG>CTG	p.P486L	CSRP2BP_uc002wqk.2_Missense_Mutation_p.P358L|CSRP2BP_uc010zru.1_Missense_Mutation_p.P357L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	486					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GCCATGACTCCGGAAGCTCGG	0.498													T	18143375	C	T	18143375	3	4	250	1	0	0	0	0	1	0	0	0	3968	652	23	1	1479	1	CSRP2BP	20	18143375	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	935304	18143375	44882145	1356	125284											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143544	18143544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagctggacaagccacGtacagaaccacctgtcagga	9	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:18143544G>A	uc002wqj.2	+	7	2248	c.1626G>A	c.(1624-1626)ACG>ACA	p.T542T	CSRP2BP_uc002wqk.2_Silent_p.T414T|CSRP2BP_uc010zru.1_Silent_p.T413T	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	542					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GACAAGCCACGTACAGAACCA	0.498													A	18143544	G	A	18143544	2	1	250	1	0	0	0	0	0	0	0	1	3968	1132	40	1		1	CSRP2BP	20	18143544	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	169	18143544	44881976	1357	125285											
PAX1	5075	broad.mit.edu	37	chr20	21687221	21687221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagctccgcgtatcccaCggctgcgtgagcaagatcct	12	15	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:21687221C>T	uc002wsj.2	+	2	486	c.432C>T	c.(430-432)CAC>CAT	p.H144H	PAX1_uc010zsl.1_Silent_p.H144H|PAX1_uc010zsm.1_Silent_p.H120H	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	144	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GCGTATCCCACGGCTGCGTGA	0.687													T	21687221	C	T	21687221	2	4	250	1	0	0	0	0	0	0	0	1	11478	535	19	1		1	PAX1	20	21687221	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3543677	21687221	41338299	1358	125286											
ACSS1	84532	broad.mit.edu	37	chr20	24988454	24988454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacactcaggatctctgCgatgatgctggggtcctcca	12	11	2	2	rs143890712		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:24988454C>T	uc002wub.2	-	14	2892	c.2014G>A	c.(2014-2016)GCA>ACA	p.A672T	ACSS1_uc002wuc.2_Missense_Mutation_p.A670T|ACSS1_uc010gdc.2_Missense_Mutation_p.A467T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A589T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	672					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGATCTCTGCGATGATGCTG	0.602													T	24988454	C	T	24988454	3	4	250	1	0	0	0	0	1	0	0	0	188	768	27	1	59	1	ACSS1	20	24988454	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3301233	24988454	38037066	1359	125287											
ACSS1	84532	broad.mit.edu	37	chr20	25004177	25004177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaggacatgctgcacGgtggggcagtgcttcacagc	14	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:25004177G>A	uc002wub.2	-	4	1610	c.732C>T	c.(730-732)ACC>ACT	p.T244T	ACSS1_uc002wuc.2_Silent_p.T244T|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Silent_p.T161T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	244					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGCTGCACGGTGGGGCAGT	0.582													A	25004177	G	A	25004177	2	1	250	1	0	0	0	0	0	0	0	1	188	1103	39	1		1	ACSS1	20	25004177	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	15723	25004177	38021343	1360	125288											
NINL	22981	broad.mit.edu	37	chr20	25439088	25439088	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgatgcagctcggccacAcggtcctggggcaccagccg	15	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:25439088A>G	uc002wux.1	-	22	3848	c.3774T>C	c.(3772-3774)CGT>CGC	p.R1258R	NINL_uc010gdn.1_Silent_p.R909R|NINL_uc002wuw.1_Silent_p.R49R	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1258	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCTCGGCCACACGGTCCTGGG	0.677													G	25439088	A	G	25439088	2	3	250	1	0	0	0	0	0	0	0	1	10420	146	6	3		3	NINL	20	25439088	Silent	SNP	A	TCGA-HF-7132-01A-11D-2053-08	434911	25439088	37586432	1361	125289											
NECAB3	63941	broad.mit.edu	37	chr20	32248127	32248127	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgagctctgaagggcTtgcagctggctcaccgtctc	12	14	3	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:32248127T>C	uc002wzn.3	-	6	568	c.462A>G	c.(460-462)CAA>CAG	p.Q154Q	NECAB3_uc002wzl.2_5'UTR|NECAB3_uc002wzm.3_Silent_p.Q154Q|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Silent_p.Q105Q|NECAB3_uc002wzq.3_Silent_p.Q154Q|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Silent_p.Q154Q|C20orf144_uc002wzs.1_5'Flank	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	154					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1						TCTGAAGGGCTTGCAGCTGGC	0.642													C	32248127	T	C	32248127	2	2	250	1	0	0	0	0	0	0	0	1	10306	1606	56	3		3	NECAB3	20	32248127	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	6809039	32248127	30777393	1362	125290											
PIGU	128869	broad.mit.edu	37	chr20	33245009	33245009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatactgctccagaatacGgagatactcccaagtccaac	7	12	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:33245009G>A	uc002xas.2	-	2	370	c.170C>T	c.(169-171)CCG>CTG	p.P57L	PIGU_uc010zul.1_Missense_Mutation_p.P57L|PIGU_uc002xat.2_Missense_Mutation_p.P57L|PIGU_uc010gev.1_RNA	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	57					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane					0						TCCAGAATACGGAGATACTCC	0.393													A	33245009	G	A	33245009	3	1	250	1	0	0	0	0	1	0	0	0	11900	1116	39	1	1181	1	PIGU	20	33245009	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	996882	33245009	29780511	1363	125291											
NCOA6	23054	broad.mit.edu	37	chr20	33328372	33328372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctgctgaggcagtgccCgggcccacagggctagaggt	17	12	0	2	rs141863711		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:33328372C>T	uc002xav.2	-	12	8259	c.5688G>A	c.(5686-5688)CCG>CCA	p.P1896P	NCOA6_uc002xaw.2_Silent_p.P1896P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1896	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			ovary(3)|breast(3)|central_nervous_system(1)	7						AGGCAGTGCCCGGGCCCACAG	0.602													T	33328372	C	T	33328372	2	4	250	1	0	0	0	0	0	0	0	1	10233	639	23	1		1	NCOA6	20	33328372	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	83363	33328372	29697148	1364	125292											
TRPC4AP	26133	broad.mit.edu	37	chr20	33593526	33593526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctggttttcaaatcgGtccagggacagagtgacaca	10	11	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:33593526G>A	uc002xbk.2	-	16	1942	c.1908C>T	c.(1906-1908)GAC>GAT	p.D636D	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.D227D|TRPC4AP_uc002xbl.2_Silent_p.D628D|TRPC4AP_uc010zur.1_Silent_p.D597D	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	636					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTTCAAATCGGTCCAGGGACA	0.507													A	33593526	G	A	33593526	2	1	250	1	0	0	0	0	0	0	0	1	16578	1252	44	4		4	TRPC4AP	20	33593526	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	265154	33593526	29431994	1365	125293											
RBM12	10137	broad.mit.edu	37	chr20	34241632	34241632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agactttggcagagttgacaTccccctctggatttagtatc	9	10	1	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:34241632T>C	uc002xdq.2	-	3	1845	c.1613A>G	c.(1612-1614)GAT>GGT	p.D538G	CPNE1_uc010zvj.1_5'UTR|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.D538G|RBM12_uc002xds.2_Missense_Mutation_p.D538G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	538						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGAGTTGACATCCCCCTCTGG	0.393													C	34241632	T	C	34241632	3	2	250	1	0	0	0	0	1	0	0	0	13113	1435	50	3	1189	3	RBM12	20	34241632	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	648106	34241632	28783888	1366	125294											
RBL1	5933	broad.mit.edu	37	chr20	35672624	35672624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatgtcccttgagagcccCtcttctgagcggatcaccac	8	16	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:35672624C>A	uc002xgi.2	-	13	1714	c.1635G>T	c.(1633-1635)GAG>GAT	p.E545D	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.E545D	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	545	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TTGAGAGCCCCTCTTCTGAGC	0.483													A	35672624	C	A	35672624	3	1	250	1	0	0	0	0	1	0	0	0	13109	680	24	5	1620	5	RBL1	20	35672624	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1430992	35672624	27352896	1367	125295											
TGM2	7052	broad.mit.edu	37	chr20	36766620	36766620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagcaggaggcggcagaCgtactcctcagcggtgttgt	15	10	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:36766620C>T	uc002xhr.2	-	10	1610	c.1510G>A	c.(1510-1512)GTC>ATC	p.V504I	TGM2_uc010zvx.1_Missense_Mutation_p.V423I|TGM2_uc010zvy.1_Missense_Mutation_p.V444I|TGM2_uc002xhs.1_Missense_Mutation_p.V480I|TGM2_uc002xht.2_Missense_Mutation_p.V504I	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	504					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGGCGGCAGACGTACTCCTCA	0.592													T	36766620	C	T	36766620	3	4	250	1	0	0	0	0	1	0	0	0	15827	536	19	1	601	1	TGM2	20	36766620	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1093996	36766620	26258900	1368	125296											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547109	37547109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccttccttagcacacacCtgggcagcagcatggccagg	10	16	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:37547109C>A	uc002xje.2	+	11	1693	c.1504C>A	c.(1504-1506)CTG>ATG	p.L502M	PPP1R16B_uc010ggc.2_Missense_Mutation_p.L460M	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	502					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TAGCACACACCTGGGCAGCAG	0.622													A	37547109	C	A	37547109	3	1	250	1	0	0	0	0	1	0	0	0	12366	680	24	5	1542	5	PPP1R16B	20	37547109	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	780489	37547109	25478411	1369	125297											
MAFB	9935	broad.mit.edu	37	chr20	39317281	39317281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcgggctgaagctgggCgacgagggcacggagctaca	18	10	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:39317281C>T	uc002xji.2	-	1	596	c.210G>A	c.(208-210)TCG>TCA	p.S70S		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	70					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				TGAAGCTGGGCGACGAGGGCA	0.672			T	IGH@	MM								T	39317281	C	T	39317281	2	4	250	1	0	0	0	0	0	0	0	1	9158	755	27	1		1	MAFB	20	39317281	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1770172	39317281	23708239	1370	125298											
RIMS4	140730	broad.mit.edu	37	chr20	43384955	43384955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagccacacccatgaactgCttccgctccatccgcccgta	7	19	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43384955C>A	uc002xms.2	-	6	630	c.630G>T	c.(628-630)AAG>AAT	p.K210N	RIMS4_uc010ggu.2_Missense_Mutation_p.K211N	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	210	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)				CCATGAACTGCTTCCGCTCCA	0.622													A	43384955	C	A	43384955	3	1	250	1	0	0	0	0	1	0	0	0	13370	796	28	5	183	5	RIMS4	20	43384955	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4067674	43384955	19640565	1371	125299											
YWHAB	7529	broad.mit.edu	37	chr20	43530295	43530295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggcatgaactctccaacGaagagagaaatctgctctct	10	10	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43530295G>A	uc002xmt.2	+	3	403	c.121G>A	c.(121-123)GAA>AAA	p.E41K	YWHAB_uc002xmu.2_Missense_Mutation_p.E41K	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	41					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			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				ACTCTCCAACGAAGAGAGAAA	0.527													A	43530295	G	A	43530295	3	1	250	1	0	0	0	0	1	0	0	0	17498	1059	37	1	123	1	YWHAB	20	43530295	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	145340	43530295	19495225	1372	125300											
SLPI	6590	broad.mit.edu	37	chr20	43881731	43881731	+	Frame_Shift_Del	DEL	G	G	-													ccatccatctcacagaaattGggggggttaagcatcaaaca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43881730_43881730TG>T	uc002xnm.1	-	2	329	c.307_307CA>A	c.(307-309)aatfs	p.N103fs		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTA	0.537													-	43881731	G	-	43881731	7	5	250	1	0	1	0	1	0	0	0	0	14753	1335	47	0	100	0	SLPI	20	43881731	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	351436	43881731	19143789	1373	125301											
MATN4	8785	broad.mit.edu	37	chr20	43933003	43933003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcgctgcacccccaccgCgtaaatttcaatgccgcggg	11	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43933003C>T	uc002xnn.2	-	3	695	c.508G>A	c.(508-510)GCG>ACG	p.A170T	MATN4_uc002xno.2_Missense_Mutation_p.A170T|MATN4_uc002xnp.2_Missense_Mutation_p.A170T|MATN4_uc010zwr.1_Missense_Mutation_p.A118T|MATN4_uc002xnr.1_Missense_Mutation_p.A170T|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	170	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				ACCCCCACCGCGTAAATTTCA	0.706													T	43933003	C	T	43933003	3	4	250	1	0	0	0	0	1	0	0	0	9336	768	27	1	1269	1	MATN4	20	43933003	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	51272	43933003	19092517	1374	125302											
RBPJL	11317	broad.mit.edu	37	chr20	43945395	43945395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgactggcgctggctgcgCgctcccatcacaatccccat	10	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:43945395C>T	uc002xns.2	+	12	1422	c.1350C>T	c.(1348-1350)CGC>CGT	p.R450R	RBPJL_uc002xnt.2_Missense_Mutation_p.R454C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	450	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGCTGCGCGCTCCCATCA	0.697													T	43945395	C	T	43945395	2	4	250	1	0	0	0	0	0	0	0	1	13162	755	27	1		1	RBPJL	20	43945395	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	12392	43945395	19080125	1375	125303											
MMP9	4318	broad.mit.edu	37	chr20	44642001	44642001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtccacccctcagagCgccccacagctggccccaca	7	22	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:44642001C>T	uc002xqz.2	+	9	1457	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	480					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCCTCAGAGCgccccacagc	0.463											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44642001	C	T	44642001	3	4	250	1	0	0	0	0	1	0	0	0	9669	768	27	1	1472	1	MMP9	20	44642001	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	696606	44642001	18383519	1376	125304											
ZMYND8	23613	broad.mit.edu	37	chr20	45912325	45912325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacttacacaaggctcaCaaaaccagttatctcgtttt	4	12	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:45912325C>T	uc002xta.1	-	9	1066	c.812G>A	c.(811-813)TGT>TAT	p.C271Y	ZMYND8_uc010ghr.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xst.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xsu.1_Missense_Mutation_p.C271Y|ZMYND8_uc002xsv.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xsw.1_Missense_Mutation_p.C23Y|ZMYND8_uc002xsx.1_Missense_Mutation_p.C23Y|ZMYND8_uc002xsy.1_Missense_Mutation_p.C246Y|ZMYND8_uc002xsz.1_Missense_Mutation_p.C208Y|ZMYND8_uc010zxy.1_Missense_Mutation_p.C298Y|ZMYND8_uc002xtb.1_Missense_Mutation_p.C291Y|ZMYND8_uc002xss.2_Missense_Mutation_p.C271Y|ZMYND8_uc010zxz.1_Missense_Mutation_p.C266Y|ZMYND8_uc002xtc.1_Missense_Mutation_p.C291Y|ZMYND8_uc002xtd.1_Missense_Mutation_p.C266Y|ZMYND8_uc002xte.1_Missense_Mutation_p.C271Y|ZMYND8_uc010zya.1_Missense_Mutation_p.C271Y|ZMYND8_uc002xtf.1_Missense_Mutation_p.C291Y|ZMYND8_uc002xtg.2_Missense_Mutation_p.C265Y|ZMYND8_uc010ghs.1_Missense_Mutation_p.C265Y	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	271							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ACAAGGCTCACAAAACCAGTT	0.388													T	45912325	C	T	45912325	3	4	250	1	0	0	0	0	1	0	0	0	17708	478	17	4	2754	4	ZMYND8	20	45912325	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1270324	45912325	17113195	1377	125305											
SULF2	55959	broad.mit.edu	37	chr20	46386103	46386103	+	Frame_Shift_Del	DEL	C	C	-													acagcacgaggctcggggggCccatcttctttttttgctga					rs146351737		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:46386103delC	uc002xto.2	-	2	335	c.5delG	c.(4-6)GGCfs	p.G2fs	SULF2_uc002xtr.2_Frame_Shift_Del_p.G2fs|SULF2_uc002xtq.2_Frame_Shift_Del_p.G2fs|SULF2_uc010ghv.1_Frame_Shift_Del_p.G2fs	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	2					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			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GCTCGGGGGGCCCATCTTCTT	0.567													-	46386103	C	-	46386103	7	5	250	1	0	1	0	1	0	0	0	0	15370	739	26	0	2687	0	SULF2	20	46386103	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	473778	46386103	16639417	1378	125306											
PREX1	57580	broad.mit.edu	37	chr20	47317313	47317313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttccgcttgcagtagaCgagaaggttgtcgaagagga	15	6	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:47317313C>T	uc002xtw.1	-	7	918	c.895G>A	c.(895-897)GTC>ATC	p.V299I		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	299	PH.				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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTGCAGTAGACGAGAAGGTTG	0.483													T	47317313	C	T	47317313	3	4	250	1	0	0	0	0	1	0	0	0	12476	536	19	1	4220	1	PREX1	20	47317313	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	931210	47317313	15708207	1379	125307											
STAU1	6780	broad.mit.edu	37	chr20	47732351	47732351	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgtttcctgttcttggcatCtctgtactttgttggtccaa	8	11	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:47732351C>A	uc002xud.2	-	13	2097	c.1686G>T	c.(1684-1686)GAG>GAT	p.E562D	STAU1_uc002xua.2_Missense_Mutation_p.E481D|STAU1_uc002xub.2_Missense_Mutation_p.E487D|STAU1_uc002xuc.2_Missense_Mutation_p.E481D|STAU1_uc002xue.2_Missense_Mutation_p.E481D|STAU1_uc002xuf.2_Missense_Mutation_p.E487D|STAU1_uc002xug.2_Missense_Mutation_p.E562D	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	562						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTCTTGGCATCTCTGTACTTT	0.522													A	47732351	C	A	47732351	3	1	250	1	0	0	0	0	1	0	0	0	15271	912	32	5	55	5	STAU1	20	47732351	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	415038	47732351	15293169	1380	125308											
ZNFX1	57169	broad.mit.edu	37	chr20	47887640	47887640	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctggatactggtttcGgatgtcagggatgggttcag	16	6	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:47887640G>A	uc002xui.2	-	3	956	c.709C>T	c.(709-711)CGA>TGA	p.R237*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	237							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TACTGGTTTCGGATGTCAGGG	0.483													A	47887640	G	A	47887640	4	1	250	1	0	0	0	0	0	1	0	0	18202	1124	39	1	5095	1	ZNFX1	20	47887640	Nonsense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	155289	47887640	15137880	1381	125309											
DOK5	55816	broad.mit.edu	37	chr20	53208299	53208299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccgctaagcgccctgcGgcggtatggacgtgatacta	14	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:53208299G>A	uc002xwy.2	+	5	774	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DOK5_uc010gin.2_Missense_Mutation_p.R77Q|DOK5_uc002xwz.2_Missense_Mutation_p.R47Q	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	185	IRS-type PTB.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGCGCCCTGCGGCGGTATGGA	0.458													A	53208299	G	A	53208299	3	1	250	1	0	0	0	0	1	0	0	0	4700	1116	39	1	572	1	DOK5	20	53208299	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5320659	53208299	9817221	1382	125310											
CASS4	57091	broad.mit.edu	37	chr20	55027043	55027043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagaatcaaggccccacGctctccccagttccagctcc	8	18	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:55027043G>A	uc002xxp.2	+	6	1036	c.811G>A	c.(811-813)GCT>ACT	p.A271T	CASS4_uc002xxq.3_Missense_Mutation_p.A271T|CASS4_uc002xxr.2_Missense_Mutation_p.A271T|CASS4_uc010zze.1_Missense_Mutation_p.A217T|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	271					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						AAGGCCCCACGCTCTCCCCAG	0.507													A	55027043	G	A	55027043	3	1	250	1	0	0	0	0	1	0	0	0	2683	1087	38	1	829	1	CASS4	20	55027043	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1818744	55027043	7998477	1383	125311											
GNAS	2778	broad.mit.edu	37	chr20	57430058	57430058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgatgactccagcggagacGagtccgacgatgggacctcc	13	13	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:57430058G>A	uc002xzw.2	+	1	2023	c.1738G>A	c.(1738-1740)GAG>AAG	p.E580K	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAGCGGAGACGAGTCCGACGA	0.662			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57430058	G	A	57430058	3	1	250	1	0	0	0	0	1	0	0	0	6510	1059	37	1	2482	1	GNAS	20	57430058	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2403015	57430058	5595462	1384	125312											
GNAS	2778	broad.mit.edu	37	chr20	57480483	57480483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaggatgaaggagtgCgtgcctgctacgaacgctcc	16	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:57480483C>T	uc002xzw.2	+	6	2692	c.2407C>T	c.(2407-2409)CGT>TGT	p.R803C	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R101C|GNAS_uc002xzx.2_Missense_Mutation_p.R101C|GNAS_uc010gjr.2_Missense_Mutation_p.R51C|GNAS_uc002xzy.2_Missense_Mutation_p.R86C|GNAS_uc002yaa.2_Missense_Mutation_p.R146C|GNAS_uc010zzt.1_Missense_Mutation_p.R161C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R51C|GNAS_uc002yae.2_Missense_Mutation_p.R85C	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	160					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAAGGAGTGCGTGCCTGCTA	0.468			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57480483	C	T	57480483	3	4	250	1	0	0	0	0	1	0	0	0	6510	768	27	1	3317	1	GNAS	20	57480483	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	50425	57480483	5545037	1385	125313											
C20orf177	63939	broad.mit.edu	37	chr20	58519319	58519319	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaattcccattcctccTtctcccctcacacctccaga	3	18	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:58519319T>G	uc002yba.2	+	5	736	c.321T>G	c.(319-321)CCT>CCG	p.P107P	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Silent_p.P107P	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	107										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			CCATTCCTCCTTCTCCCCTCA	0.408													G	58519319	T	G	58519319	2	3	250	1	0	0	0	0	0	0	0	1	2096	1596	56	5		5	C20orf177	20	58519319	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1038836	58519319	4506201	1386	125314											
CDH26	60437	broad.mit.edu	37	chr20	58559743	58559743	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttggatgaagaaaacacTccaaattctcaagtccttta	6	8	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:58559743T>C	uc002ybe.2	+	6	891	c.591T>C	c.(589-591)ACT>ACC	p.T197T	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	197	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGAAAACACTCCAAATTCTC	0.368													C	58559743	T	C	58559743	2	2	250	1	0	0	0	0	0	0	0	1	3110	1538	54	3		3	CDH26	20	58559743	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	40424	58559743	4465777	1387	125315											
TAF4	6874	broad.mit.edu	37	chr20	60551303	60551303	+	Missense_Mutation	SNP	A	A	G													aacaaaatatgaggtccctgAggttgacccgcgtgattctt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:60551303A>G	uc002ybs.2	-	15	3179	c.3179T>C	c.(3178-3180)CTC>CCC	p.L1060P		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1060					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			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGGTCCCTGAGGTTGACCCG	0.552													G	60551303	A	G	60551303	3	3	250	1	0	0	0	0	1	0	0	0	15523	304	11	3	82	3	TAF4	20	60551303	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	1991560	60551303	2474217	1388	125316	651	2									
TAF4	6874	broad.mit.edu	37	chr20	60551312	60551312	+	Missense_Mutation	SNP	C	C	T													tgaggtccctgaggttgaccCgcgtgattctttgtcgcgtg							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:60551312C>T	uc002ybs.2	-	15	3170	c.3170G>A	c.(3169-3171)CGG>CAG	p.R1057Q		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1057					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			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGGTTGACCCGCGTGATTCT	0.537													T	60551312	C	T	60551312	3	4	250	1	0	0	0	0	1	0	0	0	15523	652	23	1	91	1	TAF4	20	60551312	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	9	60551312	2474208	1389	125317	651	2									
GTPBP5	26164	broad.mit.edu	37	chr20	60772933	60772933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagtcaagtccctgtcGtcggtcctgtcgcggtacca	11	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:60772933G>A	uc002yce.3	+	4	416	c.378G>A	c.(376-378)TCG>TCA	p.S126S	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_Intron|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Silent_p.S126S	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	126	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AGTCCCTGTCGTCGGTCCTGT	0.547													A	60772933	G	A	60772933	2	1	250	1	0	0	0	0	0	0	0	1	6883	1132	40	1		1	GTPBP5	20	60772933	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	221621	60772933	2252587	1390	125318											
COL20A1	57642	broad.mit.edu	37	chr20	61944226	61944226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggtggccgcagccccGtctggcgtgcttgtctacca	15	14	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:61944226G>A	uc011aau.1	+	16	2116	c.2016G>A	c.(2014-2016)CCG>CCA	p.P672P	COL20A1_uc011aav.1_Silent_p.P493P	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	672	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCGCAGCCCCGTCTGGCGTGC	0.662													A	61944226	G	A	61944226	2	1	250	1	0	0	0	0	0	0	0	1	3679	1132	40	1		1	COL20A1	20	61944226	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1171293	61944226	1081294	1391	125319											
KCNQ2	3785	broad.mit.edu	37	chr20	62076149	62076149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttgccctgggagccggCggccagcaccgcaatggagg	17	13	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:62076149C>T	uc002yey.1	-	4	730	c.553G>A	c.(553-555)GCC>ACC	p.A185T	KCNQ2_uc002yez.1_Missense_Mutation_p.A185T|KCNQ2_uc002yfa.1_Missense_Mutation_p.A185T|KCNQ2_uc002yfb.1_Missense_Mutation_p.A185T|KCNQ2_uc011aax.1_Missense_Mutation_p.A185T|KCNQ2_uc002yfc.1_Missense_Mutation_p.A185T	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	185	Helical; Name=Segment S3; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGGAGCCGGCGGCCAGCACC	0.657													T	62076149	C	T	62076149	3	4	250	1	0	0	0	0	1	0	0	0	8083	768	27	1	2185	1	KCNQ2	20	62076149	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	131923	62076149	949371	1392	125320											
ZGPAT	84619	broad.mit.edu	37	chr20	62366010	62366010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcagtggtggggtcggaCgccgtggactctgcacagtc	16	11	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:62366010C>T	uc002ygk.2	+	5	1063	c.885C>T	c.(883-885)GAC>GAT	p.D295D	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Intron|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_Intron|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	295					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				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGGGTCGGACGCCGTGGACT	0.617													T	62366010	C	T	62366010	2	4	250	1	0	0	0	0	0	0	0	1	17671	535	19	1		1	ZGPAT	20	62366010	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	289861	62366010	659510	1393	125321											
NPBWR2	2832	broad.mit.edu	37	chr20	62738071	62738071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggaacggcagtggctcGgagaaggtggcattgtggcc	18	7	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr20:62738071G>A	uc011abt.1	-	1	114	c.114C>T	c.(112-114)TCC>TCT	p.S38S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	38	Extracellular (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCAGTGGCTCGGAGAAGGTGG	0.617													A	62738071	G	A	62738071	2	1	250	1	0	0	0	0	0	0	0	1	10569	1103	39	1		1	NPBWR2	20	62738071	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	372061	62738071	287449	1394	125322											
TMPRSS15	5651	broad.mit.edu	37	chr21	19701570	19701570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaattcttgaaaatgaaGttgtatattctttccttttt	5	5	3	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:19701570G>A	uc002ykw.2	-	15	1727	c.1696C>T	c.(1696-1698)CTT>TTT	p.L566F		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	566	Extracellular (Potential).|CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TGAAAATGAAGTTGTATATTC	0.308													A	19701570	G	A	19701570	3	1	250	1	0	0	0	0	1	0	0	0	16243	1029	36	4	1407	4	TMPRSS15	21	19701570	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		19701570	28428325	1395	125323											
APP	351	broad.mit.edu	37	chr21	27423456	27423456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggaacttgtcaattccGcagggcagcaacatgccgta	10	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:27423456G>A	uc002ylz.2	-	5	722	c.522C>T	c.(520-522)TGC>TGT	p.C174C	APP_uc010glk.2_Silent_p.C169C|APP_uc002yma.2_Silent_p.C174C|APP_uc011ach.1_Silent_p.C118C|APP_uc002ymb.2_Silent_p.C174C|APP_uc010glj.2_Silent_p.C118C|APP_uc011aci.1_Silent_p.C139C|APP_uc011acj.1_Silent_p.C174C	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	174	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGTCAATTCCGCAGGGCAGCA	0.483													A	27423456	G	A	27423456	2	1	250	1	0	0	0	0	0	0	0	1	815	1079	38	1		1	APP	21	27423456	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7721886	27423456	20706439	1396	125324											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306952	28306952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagacatccatgccgggacAcacggagtactcaggcccga	11	14	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:28306952A>G	uc002ymg.2	-	4	2251	c.1522T>C	c.(1522-1524)TGT>CGT	p.C508R		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	508	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATGCCGGGACACACGGAGTAC	0.617													G	28306952	A	G	28306952	3	3	250	1	0	0	0	0	1	0	0	0	269	159	6	3	1290	3	ADAMTS5	21	28306952	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	883496	28306952	19822943	1397	125325											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709452	31709452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgtggctcaggtgcaaCattgaccagaggtctacagg	14	8	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:31709452C>T	uc002ynx.1	-	1	561	c.535G>A	c.(535-537)GTT>ATT	p.V179I		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	179						intermediate filament				ovary(2)	2						TCAGGTGCAACATTGACCAGA	0.453													T	31709452	C	T	31709452	3	4	250	1	0	0	0	0	1	0	0	0	8544	478	17	4	92	4	KRTAP27-1	21	31709452	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3402500	31709452	16420443	1398	125326											
TIAM1	7074	broad.mit.edu	37	chr21	32502560	32502560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagctcgaacctgcagcGcttccgtggggatcatgtgt	12	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:32502560G>A	uc002yow.1	-	26	4488	c.4016C>T	c.(4015-4017)GCG>GTG	p.A1339V	TIAM1_uc011adk.1_Missense_Mutation_p.A1339V|TIAM1_uc011adl.1_Missense_Mutation_p.A1279V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1339	PH 2.		A -> V (in a colorectal cancer sample; somatic mutation).		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.A1339V(1)|p.A1339A(1)		lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AACCTGCAGCGCTTCCGTGGG	0.483													A	32502560	G	A	32502560	3	1	250	1	0	0	0	0	1	0	0	0	15887	1087	38	1	775	1	TIAM1	21	32502560	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	793108	32502560	15627335	1399	125327											
SFRS15	57466	broad.mit.edu	37	chr21	33065696	33065696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctttcttgagatcgagatCggggagaatgtcggcgtcta	14	7	3	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:33065696C>T	uc002ypd.2	-	12	1850	c.1424G>A	c.(1423-1425)CGA>CAA	p.R475Q	SFRS15_uc002ype.2_Missense_Mutation_p.R475Q|SFRS15_uc010glu.2_Missense_Mutation_p.R460Q|SFRS15_uc002ypf.1_Missense_Mutation_p.R149Q	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	475						nucleus	nucleotide binding|RNA binding				0						AGATCGAGATCGGGGAGAATG	0.507													T	33065696	C	T	33065696	3	4	250	1	0	0	0	0	1	0	0	0	14171	884	31	1	2055	1	SFRS15	21	33065696	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	563136	33065696	15064199	1400	125328											
DOPEY2	9980	broad.mit.edu	37	chr21	37602959	37602959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgggagcatgcagaggaCgtttctttgcatccaagagc	15	9	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:37602959C>T	uc002yvg.2	+	14	1956	c.1877C>T	c.(1876-1878)ACG>ATG	p.T626M	DOPEY2_uc011aeb.1_Missense_Mutation_p.T626M	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	626					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						ATGCAGAGGACGTTTCTTTGC	0.532													T	37602959	C	T	37602959	3	4	250	1	0	0	0	0	1	0	0	0	4708	536	19	1	1927	1	DOPEY2	21	37602959	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	4537263	37602959	10526936	1401	125329											
DYRK1A	1859	broad.mit.edu	37	chr21	38862711	38862711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctttgtaaccccaaacGcagtgcaatcaagatagttg	7	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:38862711G>A	uc002ywk.2	+	6	974	c.899G>A	c.(898-900)CGC>CAC	p.R300H	DYRK1A_uc002ywi.2_Missense_Mutation_p.R300H|DYRK1A_uc002ywj.2_Missense_Mutation_p.R291H|DYRK1A_uc002ywl.2_Missense_Mutation_p.R300H|DYRK1A_uc002ywm.2_Missense_Mutation_p.R300H|DYRK1A_uc011aei.1_Missense_Mutation_p.R61H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	300	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			ovary(2)|lung(1)|breast(1)	4						AACCCCAAACGCAGTGCAATC	0.383													A	38862711	G	A	38862711	3	1	250	1	0	0	0	0	1	0	0	0	4854	1087	38	1	921	1	DYRK1A	21	38862711	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1259752	38862711	9267184	1402	125330											
ZNF295	49854	broad.mit.edu	37	chr21	43411084	43411084	+	Frame_Shift_Del	DEL	T	T	-													aagtttacacataaactgtcTtttaaatgtgattgctgaaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:43411083_43411083CT>C	uc021wjo.1	-	0	3122	c.3122_3122AG>G	c.(3121-3123)agafs	p.R1041fs	ZNF295_uc002yzz.4_Frame_Shift_Del_p.R840fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.R1041fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.R1041fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.R1041fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	1041					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CATAAACTGTCTTTTAAATGT	0.413													-	43411084	T	-	43411084	7	5	250	1	0	1	0	1	0	0	0	0	17824	1617	56	0	83	0	ZNF295	21	43411084	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	4548373	43411084	4718811	1403	125331											
ZNF295	49854	broad.mit.edu	37	chr21	43413187	43413187	+	Frame_Shift_Del	DEL	G	G	-													catcgacaatgaccgtctgaGgagactcttaacaagtgggc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:43413186_43413186AG>A	uc021wjo.1	-	0	1019	c.1019_1019CT>T	c.(1018-1020)ctcfs	p.L340fs	ZNF295_uc002yzz.4_Frame_Shift_Del_p.L340fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.L340fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.L340fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.L340fs|ZNF295_uc010gov.1_Frame_Shift_Del_p.L340fs|ZNF295_uc002zac.2_Frame_Shift_Del_p.L340fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	340					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TGACCGTCTGAGGAGACTCTT	0.463													-	43413187	G	-	43413187	7	5	250	1	0	1	0	1	0	0	0	0	17824	1000	35	0	2186	0	ZNF295	21	43413187	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	2103	43413187	4716708	1404	125332											
SIK1	150094	broad.mit.edu	37	chr21	44838242	44838242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcagcactggggtggCggactgcgaccccaggaagg	17	12	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:44838242C>T	uc002zdf.2	-	12	1769	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	548					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			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						ACTGGGGTGGCGGACTGCGAC	0.711													T	44838242	C	T	44838242	3	4	250	1	0	0	0	0	1	0	0	0	14317	768	27	1	721	1	SIK1	21	44838242	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1425055	44838242	3291653	1405	125333											
RRP1B	23076	broad.mit.edu	37	chr21	45103227	45103227	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagatgactgtggaacCtttgaggacacagggcccct	14	9	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45103227C>A	uc002zdk.2	+	9	978	c.864C>A	c.(862-864)ACC>ACA	p.T288T	RRP1B_uc002zdl.2_5'Flank	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	288					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		ACTGTGGAACCTTTGAGGACA	0.433													A	45103227	C	A	45103227	2	1	250	1	0	0	0	0	0	0	0	1	13688	668	24	5		5	RRP1B	21	45103227	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	264985	45103227	3026668	1406	125334											
PWP2	5822	broad.mit.edu	37	chr21	45550604	45550604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgaagatgacagcctgcAtctgcttggaggaggaggca	14	8	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45550604A>G	uc002zeb.2	+	21	2801	c.2711A>G	c.(2710-2712)CAT>CGT	p.H904R	C21orf33_uc002zec.3_5'Flank|C21orf33_uc002zed.3_5'Flank	NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	904						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GACAGCCTGCATCTGCTTGGA	0.582													G	45550604	A	G	45550604	3	3	250	1	0	0	0	0	1	0	0	0	12844	217	8	3	2793	3	PWP2	21	45550604	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	447377	45550604	2579291	1407	125335											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959433	45959433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccccagagcagacggGcacacagcagatgggcttgc	15	12	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45959433G>A	uc002zfh.1	-	1	646	c.601C>T	c.(601-603)CCC>TCC	p.P201S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	keratin associated protein 10-1	201	18.|24 X 5 AA repeats of C-C-X(3).					keratin filament				skin(1)	1						GAGCAGACGGGCACACAGCAG	0.652													A	45959433	G	A	45959433	3	1	250	1	0	0	0	0	1	0	0	0	8505	1203	42	2	251	2	KRTAP10-1	21	45959433	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	408829	45959433	2170462	1408	125336											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994702	45994702	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcaccacctcctgctgcaGaccctcctcctccgtgtccc	6	22	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:45994702G>A	uc002zfk.1	+	1	1097	c.1067G>A	c.(1066-1068)AGA>AAA	p.R356K	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	356	36 X 5 AA repeats of C-C-X(3).|34.					keratin filament					0						TCCTGCTGCAGACCCTCCTCC	0.657													A	45994702	G	A	45994702	3	1	250	1	0	0	0	0	1	0	0	0	8511	942	33	4	1069	4	KRTAP10-4	21	45994702	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	35269	45994702	2135193	1409	125337											
PCBP3	54039	broad.mit.edu	37	chr21	47361613	47361613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtcaccgggatgggcaCgctgtaatcctacccagcac	12	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47361613C>T	uc002zhq.1	+	14	1234	c.1109C>T	c.(1108-1110)ACG>ATG	p.T370M	PCBP3_uc002zhp.1_Missense_Mutation_p.T350M|PCBP3_uc002zhs.1_Missense_Mutation_p.T344M|PCBP3_uc002zhr.1_Missense_Mutation_p.T369M|PCBP3_uc002zht.1_Missense_Mutation_p.T360M	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	370					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GGGATGGGCACGCTGTAATCC	0.642													T	47361613	C	T	47361613	3	4	250	1	0	0	0	0	1	0	0	0	11502	536	19	1	1163	1	PCBP3	21	47361613	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1366911	47361613	768282	1410	125338											
COL6A2	1292	broad.mit.edu	37	chr21	47536721	47536721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggcaagaacgggaccgatgGacagaaggtagagggagcct	17	7	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47536721G>T	uc002zia.1	+	10	1074	c.992G>T	c.(991-993)GGA>GTA	p.G331V	COL6A2_uc002zhy.1_Missense_Mutation_p.G331V|COL6A2_uc002zhz.1_Missense_Mutation_p.G331V|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	331	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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGACCGATGGACAGAAGGTA	0.622													T	47536721	G	T	47536721	3	4	250	1	0	0	0	0	1	0	0	0	3700	1174	41	5	1026	5	COL6A2	21	47536721	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	175108	47536721	593174	1411	125339											
COL6A2	1292	broad.mit.edu	37	chr21	47542798	47542798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtcacagggaggccgaGgcgactttggcttgaaagga	15	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47542798G>T	uc002zia.1	+	21	1700	c.1618G>T	c.(1618-1620)GGC>TGC	p.G540C	COL6A2_uc002zhy.1_Missense_Mutation_p.G540C|COL6A2_uc002zhz.1_Missense_Mutation_p.G540C|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	540	Cell attachment site (Potential).|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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGAGGCCGAGGCGACTTTGG	0.562													T	47542798	G	T	47542798	3	4	250	1	0	0	0	0	1	0	0	0	3700	1000	35	5	1696	5	COL6A2	21	47542798	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	6077	47542798	587097	1412	125340											
LSS	4047	broad.mit.edu	37	chr21	47626623	47626624	+	Frame_Shift_Ins	INS	-	-	C													tcagcagctccagcaagtgcINScccccacgcttggtctcata							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47626622_47626623G>GC	uc002zij.3	-	15	1606_1607	c.1527_1528C>GC	c.(1525-1530)gggcacfs	p.G509fs	LSS_uc002zil.2_Frame_Shift_Ins_p.G509fs|LSS_uc011afv.1_Frame_Shift_Ins_p.G498fs|LSS_uc002zik.2_Frame_Shift_Ins_p.G429fs	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599													C	47626624	-	C	47626623	7	5	250	1	0	1	1	0	0	0	0	0	9065	726	26	0	699	0	LSS	21	47626623	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	83825	47626623	503272	1413	125341											
PCNT	5116	broad.mit.edu	37	chr21	47836279	47836279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatcaggccatagacgcGtgtgatgccaatacaacccc	8	12	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr21:47836279G>A	uc002zji.3	+	30	6554	c.6447G>A	c.(6445-6447)GCG>GCA	p.A2149A	PCNT_uc002zjj.2_Silent_p.A2031A	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2149					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCATAGACGCGTGTGATGCCA	0.448													A	47836279	G	A	47836279	2	1	250	1	0	0	0	0	0	0	0	1	11590	1132	40	1		1	PCNT	21	47836279	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	209656	47836279	293616	1414	125342											
POTEH	23784	broad.mit.edu	37	chr22	16287790	16287790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctccccctgcaccaggcGaagcagtggcggcaccactt	11	18	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:16287790G>A	uc010gqp.2	-	1	148	c.96C>T	c.(94-96)TTC>TTT	p.F32F	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	32										skin(1)	1						TGCACCAGGCGAAGCAGTGGC	0.582													A	16287790	G	A	16287790	2	1	250	1	0	0	0	0	0	0	0	1	12267	1049	37	1		1	POTEH	22	16287790	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08		16287790	35016776	1415	125343											
MICAL3	57553	broad.mit.edu	37	chr22	18273780	18273780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttccactgccatgcgTtcccggagctcctgctgcag	9	17	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:18273780T>C	uc002zng.3	-	31	6161	c.5808A>G	c.(5806-5808)GAA>GAG	p.E1936E	MICAL3_uc011agl.1_Silent_p.E1852E|MICAL3_uc010grd.1_Silent_p.E52E|MICAL3_uc010gre.1_RNA	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1936	Potential.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCCATGCGTTCCCGGAGCT	0.642													C	18273780	T	C	18273780	2	2	250	1	0	0	0	0	0	0	0	1	9571	1722	60	3		3	MICAL3	22	18273780	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	1985990	18273780	33030786	1416	125344											
DGCR2	9993	broad.mit.edu	37	chr22	19052574	19052574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgtcgggcacttccctAggaaacataaaggacagaag	10	11	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:19052574A>G	uc002zoq.1	-	4	583	c.335T>C	c.(334-336)CTA>CCA	p.L112P	DGCR2_uc002zor.1_Intron|DGCR2_uc011agr.1_Intron	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	112	Extracellular (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					GCACTTCCCTAGGAAACATAA	0.552													G	19052574	A	G	19052574	3	3	250	1	0	0	0	0	1	0	0	0	4461	420	15	3	1345	3	DGCR2	22	19052574	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	778794	19052574	32251992	1417	125345											
SEPT5	5413	broad.mit.edu	37	chr22	19707945	19707945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacaaccgagtgcactgCtgcctatacttcatctcccc	6	16	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:19707945C>T	uc002zpv.1	+	6	590	c.465C>T	c.(463-465)TGC>TGT	p.C155C	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	155					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)	1	Colorectal(54;0.0993)					GAGTGCACTGCTGCCTATACT	0.587													T	19707945	C	T	19707945	2	4	250	1	0	0	0	0	0	0	0	1	14067	805	28	2		2	SEPT5	22	19707945	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	655371	19707945	31596621	1418	125346											
DGCR8	54487	broad.mit.edu	37	chr22	20097586	20097586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagatgtccattgtggcGtccgcccagcctggcggtga	13	14	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20097586G>A	uc002zri.2	+	14	2627	c.2277G>A	c.(2275-2277)GCG>GCA	p.A759A	DGCR8_uc010grz.2_Silent_p.A726A|DGCR8_uc002zrj.2_Silent_p.A402A	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	759	Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					CCATTGTGGCGTCCGCCCAGC	0.652													A	20097586	G	A	20097586	2	1	250	1	0	0	0	0	0	0	0	1	4464	1132	40	1		1	DGCR8	22	20097586	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	389641	20097586	31206980	1419	125347											
TRMT2A	27037	broad.mit.edu	37	chr22	20100532	20100532	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggatcaccttggaatcTgaggaggcaaacaccagctg	12	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20100532T>C	uc002zrk.1	-	12	1765	c.1550_splice	c.e12-1	p.H517_splice	TRMT2A_uc002zrl.1_Splice_Site_p.H517_splice|TRMT2A_uc002zrm.1_Splice_Site_p.H339_splice|TRMT2A_uc002zrn.1_Splice_Site_p.H535_splice	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C						RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						CCTTGGAATCTGAGGAGGCAA	0.582													C	20100532	T	C	20100532	5	2	250	1	0	0	0	0	0	0	1	0	16562	1594	55	3	337	3	TRMT2A	22	20100532	Splice_Site	SNP	T	TCGA-HF-7132-01A-11D-2053-08	2946	20100532	31204034	1420	125348											
RTN4R	65078	broad.mit.edu	37	chr22	20230512	20230512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcccacgggcacagcctgCaggccctgctgggggcagct	15	15	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20230512C>T	uc002zrv.2	-	2	345	c.144G>A	c.(142-144)CTG>CTA	p.L48L	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	48	LRRNT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					GCACAGCCTGCAGGCCCTGCT	0.672													T	20230512	C	T	20230512	2	4	250	1	0	0	0	0	0	0	0	1	13730	697	25	2		2	RTN4R	22	20230512	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	129980	20230512	31074054	1421	125349											
ZNF74	7625	broad.mit.edu	37	chr22	20760918	20760918	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctacaagtgcagcgAgtgcggcagagccttcagcc	13	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:20760918A>G	uc010gsm.2	+	6	1807	c.1595A>G	c.(1594-1596)GAG>GGG	p.E532G	ZNF74_uc002zsg.2_Missense_Mutation_p.E461G|ZNF74_uc002zsh.2_Missense_Mutation_p.E532G|ZNF74_uc002zsi.2_Missense_Mutation_p.E461G|ZNF74_uc010gsn.2_Missense_Mutation_p.E461G	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	532	C2H2-type 11.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			AAGTGCAGCGAGTGCGGCAGA	0.552													G	20760918	A	G	20760918	3	3	250	1	0	0	0	0	1	0	0	0	18124	304	11	3	1613	3	ZNF74	22	20760918	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	530406	20760918	30543648	1422	125350											
PI4KA	5297	broad.mit.edu	37	chr22	21159385	21159385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtagaatcttctggagctCcccctggctcgtgttgaact	10	11	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:21159385C>T	uc002zsz.3	-	11	1294	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	PI4KA_uc010gsq.1_Missense_Mutation_p.E413K	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	355					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			TTCTGGAGCTCCCCCTGGCTC	0.547													T	21159385	C	T	21159385	3	4	250	1	0	0	0	0	1	0	0	0	11873	864	30	4	5251	4	PI4KA	22	21159385	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	398467	21159385	30145181	1423	125351											
SLC7A4	6545	broad.mit.edu	37	chr22	21384035	21384035	+	Frame_Shift_Del	DEL	C	C	-													ccgatactgttgctggtgagCccccaggacaaggaggctga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:21384034_21384034GC>G	uc002zud.3	-	2	1657	c.1589_1589GC>C	c.(1588-1590)gctfs	p.A530fs	SLC7A4_uc002zue.3_Frame_Shift_Del_p.A530fs	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	530					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGCTGGTGAGCCCCCAGGAC	0.592													-	21384035	C	-	21384035	7	5	250	1	0	1	0	1	0	0	0	0	14699	739	26	0	331	0	SLC7A4	22	21384035	Frame_Shift_Del	DEL	C	TCGA-HF-7132-01A-11D-2053-08	224650	21384035	29920531	1424	125352											
CABIN1	23523	broad.mit.edu	37	chr22	24560440	24560440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatgaaccgctccatcGtgctgctgctcaaggtgctg	12	13	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:24560440G>A	uc002zzi.1	+	30	4946	c.4819G>A	c.(4819-4821)GTG>ATG	p.V1607M	CABIN1_uc002zzj.1_Missense_Mutation_p.V1528M|CABIN1_uc002zzl.1_Missense_Mutation_p.V1607M|CABIN1_uc002zzm.1_Missense_Mutation_p.V32M	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1607					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						CCGCTCCATCGTGCTGCTGCT	0.637													A	24560440	G	A	24560440	3	1	250	1	0	0	0	0	1	0	0	0	2528	1145	40	1	4933	1	CABIN1	22	24560440	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3176405	24560440	26744126	1425	125353											
SGSM1	129049	broad.mit.edu	37	chr22	25294150	25294151	+	Frame_Shift_Ins	INS	-	-	C													ttggacgcccagcggaacacINSccccacggtgctgcgaccta							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:25294149_25294150A>AC	uc003abg.2	+	19	2555_2556	c.2398_2399A>AC	c.(2398-2400)accfs	p.T800fs	SGSM1_uc010guu.1_Frame_Shift_Ins_p.T745fs|SGSM1_uc003abh.2_Frame_Shift_Ins_p.T739fs|SGSM1_uc003abj.2_Frame_Shift_Ins_p.T684fs|SGSM1_uc003abi.1_Frame_Shift_Ins_p.T720fs	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	800	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						CCAGCGGAACACCCCCACGGTG	0.634													C	25294151	-	C	25294150	7	5	250	1	0	1	1	0	0	0	0	0	14222	507	18	0	2477	0	SGSM1	22	25294150	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	733710	25294150	26010416	1426	125354											
CRYBB2	1415	broad.mit.edu	37	chr22	25627692	25627692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtccgtgcgccgtatcCgcgacatgcagtggcaccaa	12	14	0	0	rs148209404		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:25627692C>T	uc003abp.1	+	6	619	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_000496	NP_000487	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens				0						GCGCCGTATCCGCGACATGCA	0.652													T	25627692	C	T	25627692	3	4	250	1	0	0	0	0	1	0	0	0	3911	652	23	1	589	1	CRYBB2	22	25627692	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	333542	25627692	25676874	1427	125355											
LRP5L	91355	broad.mit.edu	37	chr22	25750563	25750563	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccacccccctggactcacCgacgaccttgtccacgttca	7	20	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:25750563C>A	uc003abs.2	-	3	3120	c.655G>T	c.(655-657)GGA>TGA	p.G219*	LRP5L_uc011ajz.1_Nonsense_Mutation_p.G219*|LRP5L_uc010guw.1_Missense_Mutation_p.G219W	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	219											0						CTGGACTCACCGACGACCTTG	0.582													A	25750563	C	A	25750563	4	1	250	1	0	0	0	0	0	1	0	0	8961	666	23	5	111	5	LRP5L	22	25750563	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	122871	25750563	25554003	1428	125356											
TFIP11	24144	broad.mit.edu	37	chr22	26888314	26888314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggcaatgttctcccgtgCtcctggctgcatgtaggcac	11	12	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:26888314C>T	uc003acr.2	-	14	2553	c.2179G>A	c.(2179-2181)GCA>ACA	p.A727T	TFIP11_uc003acq.2_Missense_Mutation_p.A86T|TFIP11_uc003acs.2_Missense_Mutation_p.A727T|TFIP11_uc003act.2_Missense_Mutation_p.A727T|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	727					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCTCCCGTGCTCCTGGCTGC	0.582													T	26888314	C	T	26888314	3	4	250	1	0	0	0	0	1	0	0	0	15804	797	28	2	338	2	TFIP11	22	26888314	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1137751	26888314	24416252	1429	125357											
MN1	4330	broad.mit.edu	37	chr22	28194071	28194071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagccaggcagctctggcCgaacaggttgtccttggagc	14	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:28194071C>T	uc003adj.2	-	1	3416	c.2461G>A	c.(2461-2463)GGC>AGC	p.G821S		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	821							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CAGCTCTGGCCGAACAGGTTG	0.632			T	ETV6	AML|meningioma								T	28194071	C	T	28194071	3	4	250	1	0	0	0	0	1	0	0	0	9673	652	23	1	1509	1	MN1	22	28194071	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1305757	28194071	23110495	1430	125358											
AP1B1	162	broad.mit.edu	37	chr22	29747754	29747754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcttctccagcttcacGtagatagggtcgttgtactt	9	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:29747754G>A	uc003afj.2	-	8	1183	c.999C>T	c.(997-999)TAC>TAT	p.Y333Y	AP1B1_uc003afi.2_Silent_p.Y333Y|AP1B1_uc003afk.2_Silent_p.Y333Y|AP1B1_uc003afl.2_Silent_p.Y333Y|AP1B1_uc011ako.1_5'Flank	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	333					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			ovary(1)|skin(1)	2						CCAGCTTCACGTAGATAGGGT	0.567													A	29747754	G	A	29747754	2	1	250	1	0	0	0	0	0	0	0	1	731	1140	40	1		1	AP1B1	22	29747754	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1553683	29747754	21556812	1431	125359											
TCN2	6948	broad.mit.edu	37	chr22	31011453	31011453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctacagcaccccattggCattacaggtgggaaagagac	11	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:31011453C>T	uc003aip.1	+	5	904	c.746C>T	c.(745-747)GCA>GTA	p.A249V	TCN2_uc003aiq.1_Missense_Mutation_p.A245V|TCN2_uc003air.1_Missense_Mutation_p.A222V	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	249					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCCCATTGGCATTACAGGTG	0.602													T	31011453	C	T	31011453	3	4	250	1	0	0	0	0	1	0	0	0	15704	710	25	2	764	2	TCN2	22	31011453	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1263699	31011453	20293113	1432	125360											
SLC5A4	6527	broad.mit.edu	37	chr22	32628914	32628914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgcggctgatcatcccCggcatcaccatgaggaacat	11	12	2	2	rs143604627		TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:32628914C>T	uc003ami.2	-	9	995	c.993G>A	c.(991-993)CCG>CCA	p.P331P		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	331	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						TGATCATCCCCGGCATCACCA	0.473													T	32628914	C	T	32628914	2	4	250	1	0	0	0	0	0	0	0	1	14667	639	23	1		1	SLC5A4	22	32628914	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1617461	32628914	18675652	1433	125361											
HMGXB4	10042	broad.mit.edu	37	chr22	35680012	35680012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagagtatcgcgtgaccAttgtggctgaccatccaggt	12	9	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:35680012A>G	uc003anl.2	+	6	1447	c.1273A>G	c.(1273-1275)ATT>GTT	p.I425V	HMGXB4_uc003ank.2_Missense_Mutation_p.I316V	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	425	HMG box.				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						TCGCGTGACCATTGTGGCTGA	0.413													G	35680012	A	G	35680012	3	3	250	1	0	0	0	0	1	0	0	0	7239	217	8	3	1291	3	HMGXB4	22	35680012	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3051098	35680012	15624554	1434	125362											
CSF2RB	1439	broad.mit.edu	37	chr22	37334428	37334428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcttttcaagtcaagaagCccccaggccaggctgtgccc	11	14	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37334428C>T	uc003aqa.3	+	14	2795	c.2578C>T	c.(2578-2580)CCC>TCC	p.P860S	CSF2RB_uc003aqc.3_Missense_Mutation_p.P866S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	860	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	AGTCAAGAAGCCCCCAGGCCA	0.622													T	37334428	C	T	37334428	3	4	250	1	0	0	0	0	1	0	0	0	3935	739	26	2	2628	2	CSF2RB	22	37334428	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1654416	37334428	13970138	1435	125363											
SSTR3	6753	broad.mit.edu	37	chr22	37603287	37603287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcaggtgctcatgccgcGgggcactcccgagaagacca	15	13	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37603287G>A	uc003ara.2	-	2	618	c.556C>T	c.(556-558)CGC>TGC	p.R186C	SSTR3_uc003arb.2_Missense_Mutation_p.R186C	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	186	Extracellular (Potential).				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			lung(1)	1						CTCATGCCGCGGGGCACTCCC	0.726													A	37603287	G	A	37603287	3	1	250	1	0	0	0	0	1	0	0	0	15198	1116	39	1	704	1	SSTR3	22	37603287	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	268859	37603287	13701279	1436	125364											
ELFN2	114794	broad.mit.edu	37	chr22	37769212	37769212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcgcagggcgtgaccgGcggccatgtacacctcctcc	12	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37769212G>A	uc003asq.3	-	3	3149	c.2363C>T	c.(2362-2364)GCC>GTC	p.A788V		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	788	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GGCGTGACCGGCGGCCATGTA	0.607													A	37769212	G	A	37769212	3	1	250	1	0	0	0	0	1	0	0	0	5058	1203	42	2	103	2	ELFN2	22	37769212	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	165925	37769212	13535354	1437	125365											
ELFN2	114794	broad.mit.edu	37	chr22	37769986	37769986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtggagatctctgcagccGagccctggccgttctcgagg	15	12	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37769986G>A	uc003asq.3	-	3	2375	c.1589C>T	c.(1588-1590)TCG>TTG	p.S530L		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	530	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CTCTGCAGCCGAGCCCTGGCC	0.607													A	37769986	G	A	37769986	3	1	250	1	0	0	0	0	1	0	0	0	5058	1059	37	1	877	1	ELFN2	22	37769986	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	774	37769986	13534580	1438	125366											
CARD10	29775	broad.mit.edu	37	chr22	37900249	37900249	+	Frame_Shift_Del	DEL	G	G	-													cggaggatggagccggcactGggggggaagggcaggatgga							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:37900249delG	uc003asx.1	-	9	1581	c.1578delC	c.(1576-1578)CCCfs	p.P526fs	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	526					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGG	0.642													-	37900249	G	-	37900249	7	5	250	1	0	1	0	1	0	0	0	0	2644	1335	47	0	1568	0	CARD10	22	37900249	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	130263	37900249	13404317	1439	125367											
GGA1	26088	broad.mit.edu	37	chr22	38028140	38028140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgccccccagcccatcCgcaacatcgtgttccagtca	7	20	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:38028140C>T	uc003atc.2	+	15	2031	c.1666C>T	c.(1666-1668)CGC>TGC	p.R556C	GGA1_uc003atd.2_Missense_Mutation_p.R469C|GGA1_uc003ate.2_Missense_Mutation_p.R552C|GGA1_uc003atf.2_Missense_Mutation_p.R483C|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	556	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					CCAGCCCATCCGCAACATCGT	0.642													T	38028140	C	T	38028140	3	4	250	1	0	0	0	0	1	0	0	0	6352	652	23	1	1790	1	GGA1	22	38028140	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	127891	38028140	13276426	1440	125368											
MAFF	23764	broad.mit.edu	37	chr22	38610474	38610474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacctgtcggacgaggcGctgatggggctgtcggtgcg	18	12	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:38610474G>A	uc011anp.1	+	3	422	c.84G>A	c.(82-84)GCG>GCA	p.A28A	MAFF_uc003avc.2_Silent_p.A28A|MAFF_uc011anq.1_5'UTR|MAFF_uc011anr.1_Silent_p.A28A|MAFF_uc003avd.2_Missense_Mutation_p.A78T	NM_001161572	NP_001155044	Q9ULX9	MAFF_HUMAN	transcription factor MAFF isoform a	28					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.045)					CGGACGAGGCGCTGATGGGGC	0.682													A	38610474	G	A	38610474	2	1	250	1	0	0	0	0	0	0	0	1	9159	1074	38	1		1	MAFF	22	38610474	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	582334	38610474	12694092	1441	125369											
SUN2	25777	broad.mit.edu	37	chr22	39135767	39135767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccttctttctgcagcgtcAggctcagggaggccgcggct	13	14	4	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:39135767A>G	uc003awh.1	-	14	1822	c.1538T>C	c.(1537-1539)CTG>CCG	p.L513P	SUN2_uc011anz.1_Missense_Mutation_p.L548P|SUN2_uc011aoa.1_Missense_Mutation_p.L502P|SUN2_uc003awi.1_Missense_Mutation_p.L513P|SUN2_uc010gxq.1_Missense_Mutation_p.L534P|SUN2_uc010gxr.1_Missense_Mutation_p.L513P|SUN2_uc010gxs.1_Missense_Mutation_p.L513P	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	513	Perinuclear space.				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			large_intestine(1)|skin(1)	2						CTGCAGCGTCAGGCTCAGGGA	0.627													G	39135767	A	G	39135767	3	3	250	1	0	0	0	0	1	0	0	0	15389	188	7	3	639	3	SUN2	22	39135767	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	525293	39135767	12168799	1442	125370											
ATF4	468	broad.mit.edu	37	chr22	39917951	39917952	+	Frame_Shift_Ins	INS	-	-	C													ccaggagactaataagcagcINSccccccagacggtgaaccca							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:39917950_39917951G>GC	uc003axz.3	+	2	679_680	c.399_400G>GC	c.(397-402)cagcccfs	p.Q133fs	ATF4_uc011aol.1_Frame_Shift_Ins_p.Q45fs|ATF4_uc003aya.3_Frame_Shift_Ins_p.Q133fs|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	133					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)					CTAATAAGCAGCCCCCCCAGAC	0.525													C	39917952	-	C	39917951	7	5	250	1	0	1	1	0	0	0	0	0	1082	739	26	0	406	0	ATF4	22	39917951	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	782184	39917951	11386615	1443	125371											
EP300	2033	broad.mit.edu	37	chr22	41513540	41513540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaaatcagggtcctacGcagtcaacaggtatgatgaa	11	9	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:41513540G>A	uc003azl.3	+	2	839	c.444G>A	c.(442-444)ACG>ACA	p.T148T		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	148					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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AGGGTCCTACGCAGTCAACAG	0.498			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41513540	G	A	41513540	2	1	250	1	0	0	0	0	0	0	0	1	5148	1074	38	1		1	EP300	22	41513540	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1595589	41513540	9791026	1444	125372											
TEF	7008	broad.mit.edu	37	chr22	41790188	41790188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcaatccggaccccgcCgacctggtgctctccagtgt	9	16	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:41790188C>T	uc003azy.2	+	3	650	c.564C>T	c.(562-564)GCC>GCT	p.A188A	TEF_uc003azx.2_Silent_p.A158A|TEF_uc011apa.1_Silent_p.A193A	NM_003216	NP_003207	Q10587	TEF_HUMAN	thyrotrophic embryonic factor isoform 1	188	Pro-rich (proline/acidic region (PAR)).				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGGACCCCGCCGACCTGGTGC	0.557													T	41790188	C	T	41790188	2	4	250	1	0	0	0	0	0	0	0	1	15747	639	23	1		1	TEF	22	41790188	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	276648	41790188	9514378	1445	125373											
PACSIN2	11252	broad.mit.edu	37	chr22	43289531	43289531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatacgccttctcgatgCgcgcccgctcatgcaggcag	12	16	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:43289531C>T	uc010gzg.2	-	3	371	c.149G>A	c.(148-150)CGC>CAC	p.R50H	PACSIN2_uc003bdg.3_Missense_Mutation_p.R50H|PACSIN2_uc003bde.3_Missense_Mutation_p.R50H|PACSIN2_uc003bdf.3_Missense_Mutation_p.R50H	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	50	FCH.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				CTTCTCGATGCGCGCCCGCTC	0.647													T	43289531	C	T	43289531	3	4	250	1	0	0	0	0	1	0	0	0	11375	768	27	1	1347	1	PACSIN2	22	43289531	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1499343	43289531	8015035	1446	125374											
SMC1B	27127	broad.mit.edu	37	chr22	45758880	45758880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaagttgaacattaagcCgagttttttgtttttcaaat	6	6	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:45758880C>T	uc003bgc.2	-	16	2499	c.2447G>A	c.(2446-2448)CGG>CAG	p.R816Q	SMC1B_uc003bgd.2_Missense_Mutation_p.R816Q	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	816	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AACATTAAGCCGAGTTTTTTG	0.294													T	45758880	C	T	45758880	3	4	250	1	0	0	0	0	1	0	0	0	14782	652	23	1	1300	1	SMC1B	22	45758880	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	2469349	45758880	5545686	1447	125375											
CELSR1	9620	broad.mit.edu	37	chr22	46768944	46768944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggatggcaaccactGtgcacagaaactgcgcaggg	16	9	0	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:46768944G>A	uc003bhw.1	-	25	7595	c.7595C>T	c.(7594-7596)ACA>ATA	p.T2532I	CELSR1_uc011arc.1_Missense_Mutation_p.T853I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2532	Helical; Name=3; (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		GGCAACCACTGTGCACAGAAA	0.622													A	46768944	G	A	46768944	3	1	250	1	0	0	0	0	1	0	0	0	3221	1377	48	4	1493	4	CELSR1	22	46768944	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1010064	46768944	4535622	1448	125376											
MOV10L1	54456	broad.mit.edu	37	chr22	50552165	50552165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagttacacaggtgacgCattttggaaccctaaaggaa	10	7	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:50552165C>T	uc003bjj.2	+	6	915	c.832C>T	c.(832-834)CAT>TAT	p.H278Y	MOV10L1_uc003bjk.3_Missense_Mutation_p.H278Y|MOV10L1_uc011arp.1_Missense_Mutation_p.H258Y|MOV10L1_uc011arq.1_Missense_Mutation_p.H39Y|MOV10L1_uc010hao.1_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	278					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		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)		ACAGGTGACGCATTTTGGAAC	0.408													T	50552165	C	T	50552165	3	4	250	1	0	0	0	0	1	0	0	0	9719	710	25	2	895	2	MOV10L1	22	50552165	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3783221	50552165	752401	1449	125377											
TRABD	80305	broad.mit.edu	37	chr22	50636423	50636423	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagctgcctcgggcctctgaCggtgacggccgcccgcaggc	16	16	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:50636423C>G	uc003bjq.1	+	8	929	c.843C>G	c.(841-843)GAC>GAG	p.D281E	TRABD_uc003bjr.1_Missense_Mutation_p.D165E|TRABD_uc003bjs.1_Missense_Mutation_p.D281E|TRABD_uc003bjt.1_Missense_Mutation_p.D281E|TRABD_uc003bju.1_Missense_Mutation_p.D281E|TRABD_uc003bjv.2_Missense_Mutation_p.D281E|TRABD_uc003bjw.1_Missense_Mutation_p.D281E|SELO_uc011arr.1_5'Flank	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	281											0		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)		GGGCCTCTGACGGTGACGGCC	0.701													G	50636423	C	G	50636423	3	3	250	1	0	0	0	0	1	0	0	0	16432	550	19	5	869	5	TRABD	22	50636423	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	84258	50636423	668143	1450	125378											
TUBGCP6	85378	broad.mit.edu	37	chr22	50658094	50658094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggactcgtaactgtccgGgtaccgctccaagtggtact	11	12	0	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chr22:50658094G>T	uc003bkb.1	-	18	4806	c.4294C>A	c.(4294-4296)CCG>ACG	p.P1432T	TUBGCP6_uc003bka.1_Missense_Mutation_p.P519T|TUBGCP6_uc010har.1_Missense_Mutation_p.P1424T|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1432					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		TAACTGTCCGGGTACCGCTCC	0.672													T	50658094	G	T	50658094	3	4	250	1	0	0	0	0	1	0	0	0	16767	1232	43	5	1197	5	TUBGCP6	22	50658094	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	21671	50658094	646472	1451	125379											
TLR8	51311	broad.mit.edu	37	chrX	12937805	12937805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaattctctttcacacGtgccacccaaactgccaagc	4	16	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:12937805G>A	uc004cve.2	+	2	714	c.646G>A	c.(646-648)GTG>ATG	p.V216M	TLR8_uc004cvd.2_Missense_Mutation_p.V234M	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	216	LRR 4.|Extracellular (Potential).				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			ovary(4)|lung(2)|large_intestine(1)	7						TCTTTCACACGTGCCACCCAA	0.368													A	12937805	G	A	12937805	3	1	250	1	0	0	0	0	1	0	0	0	15954	1145	40	1	652	1	TLR8	23	12937805	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		12937805	142332755	1452	125380											
CDKL5	6792	broad.mit.edu	37	chrX	18622777	18622777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgccggagcacatggAcagtagccattcccattcac	10	13	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:18622777A>G	uc004cym.2	+	12	1986	c.1733A>G	c.(1732-1734)GAC>GGC	p.D578G	CDKL5_uc004cyn.2_Missense_Mutation_p.D578G	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	578					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GAGCACATGGACAGTAGCCAT	0.498													G	18622777	A	G	18622777	3	3	250	1	0	0	0	0	1	0	0	0	3157	275	10	3	1775	3	CDKL5	23	18622777	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	5684972	18622777	136647783	1453	125381											
GPR64	10149	broad.mit.edu	37	chrX	19049103	19049103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtacacaagaactaaccTgagtcattgcaaatagatga	7	7	1	4			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:19049103T>C	uc004cyx.2	-	9	521	c.357A>G	c.(355-357)TCA>TCG	p.S119S	GPR64_uc004cyy.2_Silent_p.S116S|GPR64_uc004cyz.2_Silent_p.S105S|GPR64_uc004czb.2_Silent_p.S119S|GPR64_uc004czc.2_Silent_p.S103S|GPR64_uc004czd.2_Silent_p.S95S|GPR64_uc004cze.2_Silent_p.S89S|GPR64_uc004czf.2_Silent_p.S81S|GPR64_uc004cza.2_Silent_p.S97S|GPR64_uc004cyw.2_Silent_p.S103S|GPR64_uc010nfj.2_Silent_p.S89S	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	119	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					AGAACTAACCTGAGTCATTGC	0.393													C	19049103	T	C	19049103	2	2	250	1	0	0	0	0	0	0	0	1	6705	1594	55	3		3	GPR64	23	19049103	Silent	SNP	T	TCGA-HF-7132-01A-11D-2053-08	426326	19049103	136221457	1454	125382											
PHEX	5251	broad.mit.edu	37	chrX	22115094	22115094	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgattccacatgaaaacCgaaccagcgaggccatgtac	8	11	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:22115094C>T	uc004dah.2	+	8	1074	c.871C>T	c.(871-873)CGA>TGA	p.R291*	PHEX_uc011mjr.1_Nonsense_Mutation_p.R291*|PHEX_uc011mjs.1_Nonsense_Mutation_p.R194*	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	291	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ACATGAAAACCGAACCAGCGA	0.358													T	22115094	C	T	22115094	4	4	250	1	0	0	0	0	0	1	0	0	11819	644	23	1	901	1	PHEX	23	22115094	Nonsense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	3065991	22115094	133155466	1455	125383											
DMD	1756	broad.mit.edu	37	chrX	32366534	32366534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttaccatatctttatTgaagtcttcctctttcagat	3	10	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:32366534T>C	uc004dda.1	-	38	5681	c.5437A>G	c.(5437-5439)AAT>GAT	p.N1813D	DMD_uc004dcw.2_Missense_Mutation_p.N469D|DMD_uc004dcx.2_Missense_Mutation_p.N472D|DMD_uc004dcz.2_Missense_Mutation_p.N1690D|DMD_uc004dcy.1_Missense_Mutation_p.N1809D|DMD_uc004ddb.1_Missense_Mutation_p.N1805D|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1813	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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				ATATCTTTATTGAAGTCTTCC	0.348													C	32366534	T	C	32366534	3	2	250	1	0	0	0	0	1	0	0	0	4580	1812	63	3	5936	3	DMD	23	32366534	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	10251440	32366534	122904026	1456	125384											
SRPX	8406	broad.mit.edu	37	chrX	38008990	38008990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttacaggtctggctcatttCggcttgtaggaccatctctt	10	10	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:38008990C>T	uc004ddy.1	-	10	1455	c.1369G>A	c.(1369-1371)GAA>AAA	p.E457K	SRPX_uc004ddz.1_Missense_Mutation_p.E437K|SRPX_uc011mkh.1_Missense_Mutation_p.E398K|SRPX_uc011mki.1_3'UTR	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	457					cell adhesion	cell surface|membrane					0						TGGCTCATTTCGGCTTGTAGG	0.468													T	38008990	C	T	38008990	3	4	250	1	0	0	0	0	1	0	0	0	15163	893	31	1	29	1	SRPX	23	38008990	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5642456	38008990	117261570	1457	125385											
GPR82	27197	broad.mit.edu	37	chrX	41586424	41586424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaataggtaaaaaaacaTcaacgcacatctacctgtca	4	10	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:41586424T>C	uc004dfs.1	+	3	385	c.145T>C	c.(145-147)TCA>CCA	p.S49P	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.S49P|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	49	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						TAAAAAAACATCAACGCACAT	0.378													C	41586424	T	C	41586424	3	2	250	1	0	0	0	0	1	0	0	0	6712	1435	50	3	147	3	GPR82	23	41586424	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	3577434	41586424	113684136	1458	125386											
ZNF41	7592	broad.mit.edu	37	chrX	47308259	47308259	+	Frame_Shift_Del	DEL	T	T	-													ctgggggaagactttgttgcTtttgtcacattcacgggact							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:47308258_47308258CT>C	uc004dhs.4	-	3	1104	c.1037_1037AG>G	c.(1036-1038)agcfs	p.S346fs	ZNF41_uc004dhu.4_Frame_Shift_Del_p.S338fs|ZNF41_uc004dht.4_Frame_Shift_Del_p.S218fs|ZNF41_uc004dhv.4_Frame_Shift_Del_p.S314fs|ZNF41_uc004dhw.4_Frame_Shift_Del_p.S306fs|ZNF41_uc004dhy.4_Frame_Shift_Del_p.S304fs|ZNF41_uc004dhx.4_Frame_Shift_Del_p.S304fs|ZNF41_uc011mlm.2_Frame_Shift_Del_p.S218fs	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	346						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)				GACTTTGTTGCTTTTGTCACA	0.423													-	47308259	T	-	47308259	7	5	250	1	0	1	0	1	0	0	0	0	17886	1609	56	0	1433	0	ZNF41	23	47308259	Frame_Shift_Del	DEL	T	TCGA-HF-7132-01A-11D-2053-08	5721835	47308259	107962301	1459	125387											
GATA1	2623	broad.mit.edu	37	chrX	48650295	48650295	+	Frame_Shift_Del	DEL	G	G	-													actgtatggaggggatcccaGggggctcaccatatgccggc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:48650295delG	uc004dkq.3	+	3	356	c.265delG	c.(265-267)GGGfs	p.G89fs		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	89					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						GGGGATCCCAGGGGGCTCACC	0.602			Mis|F		megakaryoblastic leukemia of Downs Syndrome								-	48650295	G	-	48650295	7	5	250	1	0	1	0	1	0	0	0	0	6253	1000	35	0	271	0	GATA1	23	48650295	Frame_Shift_Del	DEL	G	TCGA-HF-7132-01A-11D-2053-08	1342036	48650295	106620265	1460	125388											
CACNA1F	778	broad.mit.edu	37	chrX	49066136	49066136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtcgttgcctagtagccCtttttctttcctccgccgga	10	14	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:49066136C>A	uc004dnb.2	-	41	4869	c.4807G>T	c.(4807-4809)GGG>TGG	p.G1603W	CACNA1F_uc010nip.2_Missense_Mutation_p.G1592W	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1603	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	CCTAGTAGCCCTTTTTCTTTC	0.592													A	49066136	C	A	49066136	3	1	250	1	0	0	0	0	1	0	0	0	2543	681	24	5	1158	5	CACNA1F	23	49066136	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	415841	49066136	106204424	1461	125389											
NUDT10	170685	broad.mit.edu	37	chrX	51076039	51076039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaggcgggagtcaagggGaagttaggccggctcctggg	20	7	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:51076039G>A	uc004dph.2	+	2	442	c.222G>A	c.(220-222)GGG>GGA	p.G74G	NUDT10_uc004dpi.3_Silent_p.G74G	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	nudix-type motif 10	74	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					GAGTCAAGGGGAAGTTAGGCC	0.657													A	51076039	G	A	51076039	2	1	250	1	0	0	0	0	0	0	0	1	10726	1161	41	4		4	NUDT10	23	51076039	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	2009903	51076039	104194521	1462	125390											
MAGED1	9500	broad.mit.edu	37	chrX	51643311	51643312	+	Frame_Shift_Ins	INS	-	-	C													gacgagtgcccaacagcaacINScccccggagtatgagttcct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:51643310_51643311A>AC	uc004dpn.3	+	11	2235_2236	c.2045_2046A>AC	c.(2044-2046)aacfs	p.N682fs	MAGED1_uc004dpm.3_Frame_Shift_Ins_p.N626fs|MAGED1_uc004dpo.3_Frame_Shift_Ins_p.N626fs	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	626					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)					CCCAACAGCAACCCCCCGGAGT	0.48										Multiple Myeloma(10;0.10)			C	51643312	-	C	51643311	7	5	250	1	0	1	1	0	0	0	0	0	9183	506	18	0	2088	0	MAGED1	23	51643311	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	567272	51643311	103627249	1463	125391											
MAGEH1	28986	broad.mit.edu	37	chrX	55479394	55479394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactggccttgtaattatgActgggattcggacgatgatg	13	6	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:55479394A>G	uc004dum.2	+	1	857	c.587A>G	c.(586-588)GAC>GGC	p.D196G		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	196	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TGTAATTATGACTGGGATTCG	0.517													G	55479394	A	G	55479394	3	3	250	1	0	0	0	0	1	0	0	0	9188	275	10	3	589	3	MAGEH1	23	55479394	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	3836083	55479394	99791166	1464	125392											
MTMR8	55613	broad.mit.edu	37	chrX	63444967	63444967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtgcccgtagactgcGgccaaatagagggggccaga	15	11	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:63444967G>A	uc011mou.1	-	10	1757	c.1689C>T	c.(1687-1689)GCC>GCT	p.A563A	ASB12_uc004dvp.1_Silent_p.A179A|ASB12_uc004dvq.1_Silent_p.A188A|ASB12_uc004dvr.1_Silent_p.A188A	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	Error:Variant_position_missing_in_Q96EF0_after_alignment						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CGTAGACTGCGGCCAAATAGA	0.562													A	63444967	G	A	63444967	2	1	250	1	0	0	0	0	0	0	0	1	9949	1103	39	1		1	MTMR8	23	63444967	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	7965573	63444967	91825593	1465	125393											
FAM155B	27112	broad.mit.edu	37	chrX	68725672	68725673	+	Frame_Shift_Ins	INS	-	-	A													ggccgagttcccctccgccaINSaaaaaaacttgctcaaaggc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:68725671_68725672C>CA	uc004dxk.3	+	0	594_595	c.546_547C>CA	c.(544-549)gccaaafs	p.A182fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	182						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCTCCGCCAAAAAAAACTT	0.589													A	68725673	-	A	68725672	7	5	250	1	0	1	1	0	0	0	0	0	5466	131	5	0	549	0	FAM155B	23	68725672	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	5280705	68725672	86544888	1466	125394											
DLG3	1741	broad.mit.edu	37	chrX	69673549	69673550	+	Frame_Shift_Del	DEL	GA	GA	-													gggcttcaacatcgtaggagGagaggatggagaaggcattt							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:69673549_69673550delGA	uc004dyi.1	+	8	1536_1537	c.1208_1209delGA	c.(1207-1209)GGAfs	p.G403fs	DLG3_uc004dyj.1_Frame_Shift_Del_p.G66fs|DLG3_uc011mpn.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	403	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					ATCGTAGGAGGAGAGGATGGAG	0.574													-	69673550	GA	-	69673549	7	5	250	1	0	1	0	1	0	0	0	0	4556	1174	41	0	1376	0	DLG3	23	69673549	Frame_Shift_Del	DEL	GA	TCGA-HF-7132-01A-11D-2053-08	947877	69673549	85597011	1467	125395											
SLC7A3	84889	broad.mit.edu	37	chrX	70147355	70147355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaataatgccagagaccaCggtggctatgattggggtgc	14	8	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:70147355C>T	uc004dyn.2	-	7	1320	c.1162G>A	c.(1162-1164)GTG>ATG	p.V388M	SLC7A3_uc004dyo.2_Missense_Mutation_p.V388M	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	388	Helical; Name=9; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGAGACCACGGTGGCTATG	0.537													T	70147355	C	T	70147355	3	4	250	1	0	0	0	0	1	0	0	0	14698	536	19	1	721	1	SLC7A3	23	70147355	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	473806	70147355	85123205	1468	125396											
IL2RG	3561	broad.mit.edu	37	chrX	70329102	70329102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtattgctcccccagtGgattgggtggctccattcac	11	11	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:70329102G>A	uc004dyw.1	-	5	747	c.733C>T	c.(733-735)CAC>TAC	p.H245Y	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.P6L|IL2RG_uc004dyx.1_Missense_Mutation_p.H55Y	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	245	Extracellular (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CTCCCCCAGTGGATTGGGTGG	0.517									Severe_Combined_Immunodeficiency_X-linked				A	70329102	G	A	70329102	3	1	250	1	0	0	0	0	1	0	0	0	7688	1348	47	4	392	4	IL2RG	23	70329102	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	181747	70329102	84941458	1469	125397											
ZNF711	7552	broad.mit.edu	37	chrX	84526109	84526109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacatccttctgaactcAagaaacatatgagaacccat	5	11	2	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:84526109A>G	uc004eeo.2	+	9	1908	c.1561A>G	c.(1561-1563)AAG>GAG	p.K521E	ZNF711_uc004eep.2_Missense_Mutation_p.K521E|ZNF711_uc004eeq.2_Missense_Mutation_p.K567E|ZNF711_uc011mqy.1_Missense_Mutation_p.K120E	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	521	C2H2-type 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						TTCTGAACTCAAGAAACATAT	0.403													G	84526109	A	G	84526109	3	3	250	1	0	0	0	0	1	0	0	0	18113	131	5	3	1587	3	ZNF711	23	84526109	Missense_Mutation	SNP	A	TCGA-HF-7132-01A-11D-2053-08	14197007	84526109	70744451	1470	125398											
PCDH19	57526	broad.mit.edu	37	chrX	99551849	99551849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaatccggcattcttccCggcaatgaaatccttcattc	6	13	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:99551849C>T	uc010nmz.2	-	6	4549	c.2873G>A	c.(2872-2874)CGG>CAG	p.R958Q	PCDH19_uc004efw.3_Missense_Mutation_p.R910Q|PCDH19_uc004efx.3_Missense_Mutation_p.R911Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	958	Cytoplasmic (Potential).		R -> Q.		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GCATTCTTCCCGGCAATGAAA	0.483													T	99551849	C	T	99551849	3	4	250	1	0	0	0	0	1	0	0	0	11514	652	23	1	577	1	PCDH19	23	99551849	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	15025740	99551849	55718711	1471	125399											
SRPX2	27286	broad.mit.edu	37	chrX	99920543	99920543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccatgcagggtgacacttCggggccctgagcctggctct	13	14	1	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:99920543C>T	uc004egb.2	+	7	1150	c.670C>T	c.(670-672)CGG>TGG	p.R224W		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	224	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						GGTGACACTTCGGGGCCCTGA	0.537													T	99920543	C	T	99920543	3	4	250	1	0	0	0	0	1	0	0	0	15164	875	31	1	692	1	SRPX2	23	99920543	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	368694	99920543	55350017	1472	125400											
ARMCX6	54470	broad.mit.edu	37	chrX	100871447	100871447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaaccaaatatcaggcTcctcctcatccagctcctgg	5	15	3	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:100871447T>C	uc004ehx.2	-	3	509	c.164A>G	c.(163-165)GAG>GGG	p.E55G	ARMCX6_uc004ehy.2_Missense_Mutation_p.E55G	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	55						integral to membrane					0						AATATCAGGctcctcctcatc	0.358													C	100871447	T	C	100871447	3	2	250	1	0	0	0	0	1	0	0	0	963	1551	54	3	742	3	ARMCX6	23	100871447	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	950904	100871447	54399113	1473	125401											
GPRASP2	114928	broad.mit.edu	37	chrX	101971622	101971622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttattaatggacaaaattCgggatccttttattcatgaa	6	5	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:101971622C>T	uc004ejk.2	+	4	3159	c.1825C>T	c.(1825-1827)CGG>TGG	p.R609W	GPRASP2_uc004ejl.2_Missense_Mutation_p.R609W|GPRASP2_uc004ejm.2_Missense_Mutation_p.R609W|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	609						cytoplasm	protein binding			ovary(1)	1						GGACAAAATTCGGGATCCTTT	0.383													T	101971622	C	T	101971622	3	4	250	1	0	0	0	0	1	0	0	0	6723	875	31	1	1827	1	GPRASP2	23	101971622	Missense_Mutation	SNP	C	TCGA-HF-7132-01A-11D-2053-08	1100175	101971622	53298938	1474	125402											
VSIG1	340547	broad.mit.edu	37	chrX	107320332	107320332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaatgccaagagaagaCgctacccaactagaagtaac	9	10	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:107320332C>T	uc004eno.2	+	7	1046	c.885C>T	c.(883-885)GAC>GAT	p.D295D	VSIG1_uc011msk.1_Silent_p.D331D	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	295	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CAAGAGAAGACGCTACCCAAC	0.448													T	107320332	C	T	107320332	2	4	250	1	0	0	0	0	0	0	0	1	17219	535	19	1		1	VSIG1	23	107320332	Silent	SNP	C	TCGA-HF-7132-01A-11D-2053-08	5348710	107320332	47950228	1475	125403											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698774	111698774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccccagccaaacgagcccGccagcaagaaactcagttgt	8	16	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:111698774G>A	uc004epo.1	+	3	1259	c.818G>A	c.(817-819)CGC>CAC	p.R273H		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	273							nucleic acid binding|zinc ion binding			ovary(1)	1						AAACGAGCCCGCCAGCAAGAA	0.552													A	111698774	G	A	111698774	3	1	250	1	0	0	0	0	1	0	0	0	17581	1087	38	1	820	1	ZCCHC16	23	111698774	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4378442	111698774	43571786	1476	125404											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959606	117959607	+	Frame_Shift_Ins	INS	-	-	T													gtgtgactgcccatggtaaaINSttttttaacaccctacaagc							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:117959606_117959607insT	uc004equ.2	+	4	872_873	c.399_400insT	c.(397-402)AAATTTfs	p.K133fs		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	133_134					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						cccatggtaaattttttaacac	0													T	117959607	-	T	117959606	7	5	250	1	0	1	1	0	0	0	0	0	17578	98	4	0	401	0	ZCCHC12	23	117959606	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	6260832	117959606	37310954	1477	125405	652	2									
ZCCHC12	170261	broad.mit.edu	37	chrX	117959607	117959608	+	Frame_Shift_Ins	INS	-	-	T													tgtgactgcccatggtaaatINStttttaacaccctacaagct							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:117959606_117959607A>AT	uc004equ.3	+	3	872_873	c.399_400A>AT	c.(397-402)aaatttfs	p.K133fs	ZCCHC12_uc022cdh.1_Frame_Shift_Ins_p.K133fs	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cccatggtaaattttttaacac	0.48													T	117959608	-	T	117959607	7	5	250	1	0	1	1	0	0	0	0	0	17578	1493	52	0	402	0	ZCCHC12	23	117959607	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	1	117959607	37310953	1478	125406	652	2									
THOC2	57187	broad.mit.edu	37	chrX	122799589	122799589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagaacatattgaacacGtctctcctcaaatcttcaaa	3	11	4	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:122799589G>A	uc004etu.2	-	12	1322	c.1290C>T	c.(1288-1290)GAC>GAT	p.D430D	THOC2_uc011muh.1_Silent_p.D351D|THOC2_uc011mui.1_Silent_p.D315D	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	430					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TATTGAACACGTCTCTCCTCA	0.423													A	122799589	G	A	122799589	2	1	250	1	0	0	0	0	0	0	0	1	15862	1136	40	1		1	THOC2	23	122799589	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	4839982	122799589	32470971	1479	125407											
ODZ1	10178	broad.mit.edu	37	chrX	123518350	123518350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctactcctacccttatgTcacatattaccatgcggccc	4	16	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:123518350T>C	uc004euj.2	-	29	6474	c.6410A>G	c.(6409-6411)GAC>GGC	p.D2137G	ODZ1_uc011muj.1_Missense_Mutation_p.D2143G|ODZ1_uc010nqy.2_Missense_Mutation_p.D2144G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2137	Extracellular (Potential).			MVICD -> HGNMC (in Ref. 1; AAF04723).	immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TACCCTTATGTCACATATTAC	0.408													C	123518350	T	C	123518350	3	2	250	1	0	0	0	0	1	0	0	0	10834	1667	58	3	1779	3	ODZ1	23	123518350	Missense_Mutation	SNP	T	TCGA-HF-7132-01A-11D-2053-08	718761	123518350	31752210	1480	125408											
SMARCA1	6594	broad.mit.edu	37	chrX	128615123	128615123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcgtagtttgctttgcGttctcgtttaggaggttcaa	11	8	2	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:128615123G>A	uc004eun.3	-	18	2370	c.2257C>T	c.(2257-2259)CGC>TGC	p.R753C	SMARCA1_uc004eup.3_Missense_Mutation_p.R741C|SMARCA1_uc011muk.1_Missense_Mutation_p.R753C|SMARCA1_uc011mul.1_Missense_Mutation_p.R741C	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	753					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			ovary(3)|skin(1)	4						TTTGCTTTGCGTTCTCGTTTA	0.418													A	128615123	G	A	128615123	3	1	250	1	0	0	0	0	1	0	0	0	14768	1145	40	1	935	1	SMARCA1	23	128615123	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	5096773	128615123	26655437	1481	125409											
SASH3	54440	broad.mit.edu	37	chrX	128925043	128925043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacttccggtgctcagccGccaggcatcaacaggtgagt	12	12	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:128925043G>A	uc011mun.1	+	4	610	c.428G>A	c.(427-429)CGC>CAC	p.R143H	SASH3_uc004euu.2_Missense_Mutation_p.R143H|SASH3_uc011muo.1_Missense_Mutation_p.R60H	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	143										ovary(2)|pancreas(1)	3						GTGCTCAGCCGCCAGGCATCA	0.617													A	128925043	G	A	128925043	3	1	250	1	0	0	0	0	1	0	0	0	13849	1087	38	1	442	1	SASH3	23	128925043	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	309920	128925043	26345517	1482	125410											
HS6ST2	90161	broad.mit.edu	37	chrX	132090966	132090966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagagccaggtttcccGcttacccggccggtggcaag	15	12	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:132090966G>A	uc011mve.1	-	3	1233	c.817C>T	c.(817-819)CGG>TGG	p.R273W	HS6ST2_uc011mvb.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvc.1_Missense_Mutation_p.R127W|HS6ST2_uc011mvd.1_Missense_Mutation_p.R273W	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	273	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTTCCCGCTTACCCGGC	0.652													A	132090966	G	A	132090966	3	1	250	1	0	0	0	0	1	0	0	0	7371	1086	38	1	1136	1	HS6ST2	23	132090966	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	3165923	132090966	23179594	1483	125411											
F9	2158	broad.mit.edu	37	chrX	138644078	138644079	+	Frame_Shift_Ins	INS	-	-	G													ttcatgtcaaggagatagtgINSggggaccccatgttactgaa							TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:138644077_138644078T>TG	uc004fas.1	+	7	1262_1263	c.1233_1234T>TG	c.(1231-1236)agtgggfs	p.S411fs	F9_uc004fat.1_Frame_Shift_Ins_p.S373fs	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	411	Peptidase S1.		S -> G (in HEMB; Varel).|S -> I (in HEMB; Schmallenberg).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.S411R(2)|p.D410E(1)		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)	AAGGAGATAGTGGGGGACCCCA	0.436													G	138644079	-	G	138644078	7	5	250	1	0	1	1	0	0	0	0	0	5351	1348	47	0	1264	0	F9	23	138644078	Frame_Shift_Ins	INS	-	TCGA-HF-7132-01A-11D-2053-08	6553112	138644078	16626482	1484	125412											
MCF2	4168	broad.mit.edu	37	chrX	138713596	138713596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcagtactgcaaggtGccgcctaactcaggggttaa	13	10	1	0			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:138713596G>A	uc004fau.2	-	3	540	c.246C>T	c.(244-246)GGC>GGT	p.G82G	MCF2_uc004fav.2_Silent_p.G82G|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Silent_p.G82G|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Silent_p.G227G|MCF2_uc004faw.2_Silent_p.G142G|MCF2_uc011mwo.1_Silent_p.G142G	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	82	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ACTGCAAGGTGCCGCCTAACT	0.388													A	138713596	G	A	138713596	2	1	250	1	0	0	0	0	0	0	0	1	9378	1306	46	2		2	MCF2	23	138713596	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	69518	138713596	16556964	1485	125413											
ATP2B3	492	broad.mit.edu	37	chrX	152823744	152823744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatcgtggccttcacaGgtgcctgcattactcaggtg	12	11	2	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:152823744G>T	uc004fht.1	+	15	2734	c.2608G>T	c.(2608-2610)GGT>TGT	p.G870C	ATP2B3_uc004fhs.1_Missense_Mutation_p.G870C|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	870	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTTCACAGGTGCCTGCAT	0.567													T	152823744	G	T	152823744	3	4	250	1	0	0	0	0	1	0	0	0	1141	1000	35	5	2666	5	ATP2B3	23	152823744	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	14110148	152823744	2446816	1486	125414											
AVPR2	554	broad.mit.edu	37	chrX	153171113	153171113	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatagtctttgtggctgtGgccctgagcaatggcctggt	13	10	1	1			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:153171113G>T	uc004fjh.3	+	2	224	c.153G>T	c.(151-153)GTG>GTT	p.V51V	AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Silent_p.V51V	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	51	Helical; Name=1; (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGTGGCTGTGGCCCTGAGCA	0.697													T	153171113	G	T	153171113	2	4	250	1	0	0	0	0	0	0	0	1	1233	1335	47	5		5	AVPR2	23	153171113	Silent	SNP	G	TCGA-HF-7132-01A-11D-2053-08	347369	153171113	2099447	1487	125415											
F8	2157	broad.mit.edu	37	chrX	154157611	154157611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgactgaatttgtgGcacttgtccccagggagcca	12	9	0	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrX:154157611G>A	uc004fmt.2	-	14	4625	c.4454C>T	c.(4453-4455)GCC>GTC	p.A1485V		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1485	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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	TGAATTTGTGGCACTTGTCCC	0.423													A	154157611	G	A	154157611	3	1	250	1	0	0	0	0	1	0	0	0	5350	1203	42	2	2681	2	F8	23	154157611	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	986498	154157611	1112949	1488	125416											
USP9Y	8287	broad.mit.edu	37	chrY	14968300	14968300	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaaggaattccagatgacaGagatgggctgttcgatacaa	11	6	0	3			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrY:14968300G>A	uc004fst.1	+	43	8045	c.7100G>A	c.(7099-7101)AGA>AAA	p.R2367K	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	2367					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				0						CCAGATGACAGAGATGGGCTG	0.313													A	14968300	G	A	14968300	3	1	250	1	0	0	0	0	1	0	0	0	17088	942	33	4	7262	4	USP9Y	24	14968300	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08		14968300	44405266	1489	125417											
NLGN4Y	22829	broad.mit.edu	37	chrY	16941639	16941639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggccatcattcagagcGgcactgccctgtccagctgg	12	13	2	2			TCGA-HF-7132-01A-11D-2053-08	TCGA-HF-7132-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e024a76a-01c8-4d44-8569-f4459a61ab9f	e18c9bee-e86d-4260-a286-c74e82550ad3	g.chrY:16941639G>A	uc004ftg.2	+	5	1093	c.841G>A	c.(841-843)GGC>AGC	p.G281S	NLGN4Y_uc004fte.2_Missense_Mutation_p.G113S|NLGN4Y_uc011nas.1_Missense_Mutation_p.G301S|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.G281S	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	281	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CATTCAGAGCGGCACTGCCCT	0.527													A	16941639	G	A	16941639	3	1	250	1	0	0	0	0	1	0	0	0	10465	1116	39	1	1009	1	NLGN4Y	24	16941639	Missense_Mutation	SNP	G	TCGA-HF-7132-01A-11D-2053-08	1973339	16941639	42431927	1490	125418											
SLC2A5	6518	broad.mit.edu	37	chr1	9117573	9117573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctccaaatggaaacatgGacacggttacagaccacagc	8	13	0	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:9117573G>A	uc001apo.2	-	3	519	c.227C>T	c.(226-228)TCC>TTC	p.S76F	SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_Missense_Mutation_p.S32F|SLC2A5_uc010oab.1_Missense_Mutation_p.S76F|SLC2A5_uc010oac.1_Missense_Mutation_p.S76F|SLC2A5_uc001app.3_Missense_Mutation_p.S76F	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	76	Helical; Name=2; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	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)		TGGAAACATGGACACGGTTAC	0.453													A	9117573	G	A	9117573	3	1	251	1	0	0	0	0	1	0	0	0	14548	1174	41	4	1482	4	SLC2A5	1	9117573	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		9117573	240133048	1	125419											
ARHGEF19	128272	broad.mit.edu	37	chr1	16531296	16531296	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcattgaagaggtggAggtagactgccttgctggac	15	7	1	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:16531296A>C	uc001ayc.1	-	12	2002	c.1865T>G	c.(1864-1866)CTC>CGC	p.L622R	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.L99R	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	622	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		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)		GAAGAGGTGGAGGTAGACTGC	0.622													C	16531296	A	C	16531296	3	2	251	1	0	0	0	0	1	0	0	0	902	304	11	5	563	5	ARHGEF19	1	16531296	Missense_Mutation	SNP	A	TCGA-HF-7133-01A-11D-2053-08	7413723	16531296	232719325	2	125420											
CSMD2	114784	broad.mit.edu	37	chr1	34128512	34128512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaattgaatggcaaagccCtgcttgctggtgaagaagtc	12	7	0	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:34128512C>T	uc001bxn.1	-	26	4142	c.4113G>A	c.(4111-4113)CAG>CAA	p.Q1371Q	CSMD2_uc001bxm.1_Silent_p.Q1411Q|CSMD2_uc001bxo.1_Silent_p.Q284Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1371	CUB 8.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCAAAGCCCTGCTTGCTGG	0.587													T	34128512	C	T	34128512	2	4	251	1	0	0	0	0	0	0	0	1	3945	680	24	4		4	CSMD2	1	34128512	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08	17597216	34128512	215122109	3	125421											
AGBL4	84871	broad.mit.edu	37	chr1	49056558	49056558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaaaaatggcctgccTctggaaccgttcctcatcct	9	13	2	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:49056558T>C	uc001cru.2	-	10	1209	c.1051A>G	c.(1051-1053)AGG>GGG	p.R351G	AGBL4_uc010omw.1_Missense_Mutation_p.R84G|AGBL4_uc010omx.1_Missense_Mutation_p.R363G|AGBL4_uc001crv.1_Missense_Mutation_p.R204G|AGBL4_uc010omy.1_Missense_Mutation_p.R174G	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	351					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ATGGCCTGCCTCTGGAACCGT	0.517													C	49056558	T	C	49056558	3	2	251	1	0	0	0	0	1	0	0	0	377	1550	54	3	480	3	AGBL4	1	49056558	Missense_Mutation	SNP	T	TCGA-HF-7133-01A-11D-2053-08	14928046	49056558	200194063	4	125422											
CCDC18	343099	broad.mit.edu	37	chr1	93705415	93705416	+	Frame_Shift_Ins	INS	-	-	G													ctcaattatcattagaggaaINSaaatacactactataaagga							TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:93705414_93705415A>AG	uc021opx.1	+	20	3103_3104	c.2942_2943A>AG	c.(2941-2943)gaafs	p.E981fs	CCDC18_uc009wdl.1_Frame_Shift_Ins_p.E616fs	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	980										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)		TCATTAGAGGAAAAATACACTA	0.307													G	93705416	-	G	93705415	7	5	251	1	0	1	1	0	0	0	0	0	2794	11	1	0	3379	0	CCDC18	1	93705415	Frame_Shift_Ins	INS	-	TCGA-HF-7133-01A-11D-2053-08	44648857	93705415	155545206	5	125423											
COL11A1	1301	broad.mit.edu	37	chr1	103444943	103444943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttatatatcatacccgtgCacctttctctccattggcac	4	13	2	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:103444943C>A	uc001dul.2	-	32	2923	c.2605G>T	c.(2605-2607)GCA>TCA	p.A869S	COL11A1_uc001duk.2_Missense_Mutation_p.A65S|COL11A1_uc001dum.2_Missense_Mutation_p.A881S|COL11A1_uc001dun.2_Missense_Mutation_p.A830S|COL11A1_uc009weh.2_Missense_Mutation_p.A753S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	869	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CATACCCGTGCACCTTTCTCT	0.254													A	103444943	C	A	103444943	3	1	251	1	0	0	0	0	1	0	0	0	3667	710	25	5	2959	5	COL11A1	1	103444943	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	9739528	103444943	145805678	6	125424											
NTNG1	22854	broad.mit.edu	37	chr1	107691253	107691253	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcgattcatgccctttGggttacggtgtcctcagtga	11	11	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:107691253G>A	uc001dvh.3	+	2	756	c.38G>A	c.(37-39)TGG>TAG	p.W13*	NTNG1_uc001dvf.3_Nonsense_Mutation_p.W13*|NTNG1_uc010out.1_Nonsense_Mutation_p.W13*|NTNG1_uc001dvc.3_Nonsense_Mutation_p.W13*|NTNG1_uc001dvd.1_Nonsense_Mutation_p.W13*	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	13					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CATGCCCTTTGGGTTACGGTG	0.413													A	107691253	G	A	107691253	4	1	251	1	0	0	0	0	0	1	0	0	10704	1357	47	4	40	4	NTNG1	1	107691253	Nonsense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	4246310	107691253	141559368	7	125425											
FAM63A	55793	broad.mit.edu	37	chr1	150974704	150974704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggccgttagtgctctgGgtgatgatgggtgtctgttc	16	7	2	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:150974704G>A	uc001ewf.2	-	3	2074	c.390C>T	c.(388-390)ACC>ACT	p.T130T	FAM63A_uc001ewc.2_5'UTR|FAM63A_uc010pcm.1_Silent_p.T35T|FAM63A_uc001ewd.2_5'UTR|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Silent_p.T178T|FAM63A_uc001ewg.2_Silent_p.T130T	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	130							protein binding			ovary(1)	1	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)			TAGTGCTCTGGGTGATGATGG	0.517													A	150974704	G	A	150974704	2	1	251	1	0	0	0	0	0	0	0	1	5596	1219	43	4		4	FAM63A	1	150974704	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08	43283451	150974704	98275917	8	125426											
FLG	2312	broad.mit.edu	37	chr1	152277360	152277360	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctgactaccactggaCccccagtgtctactgtctct	8	16	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:152277360C>A	uc001ezu.1	-	3	10038	c.10002G>T	c.(10000-10002)GGG>GGT	p.G3334G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3334	Filaggrin 20.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACCACTGGACCCCCAGTGTC	0.582									Ichthyosis				A	152277360	C	A	152277360	2	1	251	1	0	0	0	0	0	0	0	1	5922	494	18	5		5	FLG	1	152277360	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08	1302656	152277360	96973261	9	125427											
FLG	2312	broad.mit.edu	37	chr1	152277694	152277694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctcagagtcttctgaatgtCcctcactgtcactgtcctgg	8	13	5	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:152277694C>A	uc001ezu.1	-	3	9704	c.9668G>T	c.(9667-9669)GGA>GTA	p.G3223V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3223	Filaggrin 19.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAATGTCCCTCACTGTC	0.577									Ichthyosis				A	152277694	C	A	152277694	3	1	251	1	0	0	0	0	1	0	0	0	5922	855	30	5	2521	5	FLG	1	152277694	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	334	152277694	96972927	10	125428											
NES	10763	broad.mit.edu	37	chr1	156640628	156640628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caggggtggttccatcacctCttccctggtcagatggcctg	12	13	3	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:156640628C>G	uc001fpq.2	-	4	3485	c.3352G>C	c.(3352-3354)GAG>CAG	p.E1118Q		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1118	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			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCATCACCTCTTCCCTGGTC	0.652													G	156640628	C	G	156640628	3	3	251	1	0	0	0	0	1	0	0	0	10337	922	32	5	1517	5	NES	1	156640628	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	4362934	156640628	92609993	11	125429											
ATP1B1	481	broad.mit.edu	37	chr1	169096459	169096462	+	Splice_Site	DEL	TAGA	TAGA	-													aaaagttgtgtttttattttTagatgtgcccagtgaaccga							TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:169096458_169096461TTAGA>T	uc001gfr.1	+	4	504	c.383_splice	c.e4-1	p.D128_splice		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	128					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GTTTTTATTTTTAGATGTGCCCAG	0.402													-	169096462	TAGA	-	169096459	8	5	251	1	0	1	0	1	0	0	1	0	1132	1769	61	0		0	ATP1B1	1	169096459	Splice_Site	DEL	TAGA	TCGA-HF-7133-01A-11D-2053-08	12455831	169096459	80154162	12	125430											
ZNF648	127665	broad.mit.edu	37	chr1	182026767	182026767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtgtgcgagaccactggGaagggaacccagagctctgc	14	10	1	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:182026767G>A	uc001goz.2	-	2	587	c.379C>T	c.(379-381)CCC>TCC	p.P127S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGACCACTGGGAAGGGAACCC	0.557													A	182026767	G	A	182026767	3	1	251	1	0	0	0	0	1	0	0	0	18060	1174	41	4	1331	4	ZNF648	1	182026767	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	12930308	182026767	67223854	13	125431											
HSD11B1	3290	broad.mit.edu	37	chr1	209880290	209880290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagccatctcttgcaggaGgactagacatgctcattctc	8	11	3	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr1:209880290G>A	uc001hhj.2	+	5	441	c.334G>A	c.(334-336)GGA>AGA	p.G112R	HSD11B1_uc001hhk.2_Missense_Mutation_p.G112R	NM_181755	NP_861420	P28845	DHI1_HUMAN	11-beta-hydroxysteroid dehydrogenase 1	112	Lumenal (Potential).				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TCTTGCAGGAGGACTAGACAT	0.438													A	209880290	G	A	209880290	3	1	251	1	0	0	0	0	1	0	0	0	7375	1001	35	4	348	4	HSD11B1	1	209880290	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	27853523	209880290	39370331	14	125432											
PXDN	7837	broad.mit.edu	37	chr2	1647316	1647316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgagtcagctgggccGgggagaacaccccagggttc	15	11	2	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:1647316G>A	uc002qxa.2	-	19	3840	c.3776C>T	c.(3775-3777)CCG>CTG	p.P1259L		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1259					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			pancreas(6)|ovary(2)	8	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)		CAGCTGGGCCGGGGAGAACAC	0.587													A	1647316	G	A	1647316	3	1	251	1	0	0	0	0	1	0	0	0	12847	1116	39	1	683	1	PXDN	2	1647316	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		1647316	241552057	15	125433											
KIDINS220	57498	broad.mit.edu	37	chr2	8873723	8873723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcggcgagcaggctcacCgtgcggggctgggccactgc	18	14	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:8873723C>T	uc002qzc.2	-	29	4086	c.3904G>A	c.(3904-3906)GGT>AGT	p.G1302S	KIDINS220_uc010yiv.1_Missense_Mutation_p.G1011S|KIDINS220_uc002qzd.2_Missense_Mutation_p.G1203S|KIDINS220_uc002qzb.2_Missense_Mutation_p.G156S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1302	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCAGGCTCACCGTGCGGGGCT	0.577													T	8873723	C	T	8873723	3	4	251	1	0	0	0	0	1	0	0	0	8271	652	23	1	1419	1	KIDINS220	2	8873723	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	7226407	8873723	234325650	16	125434											
THADA	63892	broad.mit.edu	37	chr2	43732809	43732809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcccagccaaagagatTaactctttcattgttatttt	7	8	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:43732809T>C	uc002rsw.3	-	24	3925	c.3573A>G	c.(3571-3573)TTA>TTG	p.L1191L	THADA_uc010far.2_Silent_p.L460L|THADA_uc002rsx.3_Silent_p.L1191L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L900L|THADA_uc010fat.1_Silent_p.L338L|THADA_uc002rta.2_Silent_p.L901L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1191							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCAAAGAGATTAACTCTTTCA	0.368													C	43732809	T	C	43732809	2	2	251	1	0	0	0	0	0	0	0	1	15837	1751	61	3		3	THADA	2	43732809	Silent	SNP	T	TCGA-HF-7133-01A-11D-2053-08	34859086	43732809	199466564	17	125435											
LRRTM1	347730	broad.mit.edu	37	chr2	80529981	80529981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgaggctagggcacacaCgttgcgcccgcaatcccaca	10	17	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:80529981C>T	uc002sok.1	-	2	1234	c.964G>A	c.(964-966)GTG>ATG	p.V322M	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	322	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						AGGGCACACACGTTGCGCCCG	0.632										HNSCC(69;0.2)			T	80529981	C	T	80529981	3	4	251	1	0	0	0	0	1	0	0	0	9039	536	19	1	608	1	LRRTM1	2	80529981	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	36797172	80529981	162669392	18	125436											
ITGA4	3676	broad.mit.edu	37	chr2	182322539	182322539	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccacaacacgctgttcgGctactcggtcgtgctgcaca	9	17	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:182322539G>T	uc002unu.2	+	1	921	c.158G>T	c.(157-159)GGC>GTC	p.G53V	ITGA4_uc002unt.2_Missense_Mutation_p.G53V|ITGA4_uc010zfl.1_Missense_Mutation_p.G53V	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	53	FG-GAP 1.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACGCTGTTCGGCTACTCGGTC	0.647													T	182322539	G	T	182322539	3	4	251	1	0	0	0	0	1	0	0	0	7878	1203	42	5	160	5	ITGA4	2	182322539	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	101792558	182322539	60876834	19	125437											
ICA1L	130026	broad.mit.edu	37	chr2	203693599	203693599	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagcatccagttcagcatcaGacgccaccaagtgctcatcc	7	15	3	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:203693599G>C	uc002uzh.1	-	3	298	c.134C>G	c.(133-135)TCT>TGT	p.S45C	ICA1L_uc002uzi.1_Missense_Mutation_p.S45C|ICA1L_uc002uzj.2_Missense_Mutation_p.S45C|ICA1L_uc002uzk.1_Missense_Mutation_p.S45C	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	45	AH.										0						TTCAGCATCAGACGCCACCAA	0.403													C	203693599	G	C	203693599	3	2	251	1	0	0	0	0	1	0	0	0	7478	942	33	5	1376	5	ICA1L	2	203693599	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	21371060	203693599	39505774	20	125438											
ALPPL2	251	broad.mit.edu	37	chr2	233274532	233274532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccgtggtccccgcgttgcttCctctgctggcagggaccttg	13	15	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:233274532C>A	uc002vss.3	+	11	1602	c.1549C>A	c.(1549-1551)CCT>ACT	p.P517T		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	517					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		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)	CGCGTTGCTTCCTCTGCTGGC	0.746													A	233274532	C	A	233274532	3	1	251	1	0	0	0	0	1	0	0	0	549	855	30	5	1591	5	ALPPL2	2	233274532	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	29580933	233274532	9924841	21	125439											
ALPI	248	broad.mit.edu	37	chr2	233323432	233323432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgttcaactcaggcgtgcGaccagacgtgaatgagagcg	14	10	2	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr2:233323432G>A	uc002vst.3	+	10	1351	c.1274G>A	c.(1273-1275)CGA>CAA	p.R425Q	ALPI_uc002vsu.3_Missense_Mutation_p.R336Q	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	425					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCAGGCGTGCGACCAGACGTG	0.652													A	233323432	G	A	233323432	3	1	251	1	0	0	0	0	1	0	0	0	543	1058	37	1	1312	1	ALPI	2	233323432	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	48900	233323432	9875941	22	125440											
RBM5	10181	broad.mit.edu	37	chr3	50147860	50147860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtacacaggccccagccGcttcccctactggtgtagtt	9	15	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr3:50147860G>A	uc003cyg.2	+	16	1475	c.1327G>A	c.(1327-1329)GCT>ACT	p.A443T	RBM5_uc011bdj.1_Missense_Mutation_p.A387T|RBM5_uc011bdk.1_Missense_Mutation_p.A271T|RBM5_uc003cyh.2_5'Flank	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	443	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			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCCCAGCCGCTTCCCCTAC	0.453													A	50147860	G	A	50147860	3	1	251	1	0	0	0	0	1	0	0	0	13143	1087	38	1	1385	1	RBM5	3	50147860	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		50147860	147874570	23	125441											
KCTD6	200845	broad.mit.edu	37	chr3	58487062	58487062	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaacccagtggctgtcatCataacgcaactaaccatcac	5	15	3	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr3:58487062C>T	uc003dkj.3	+	3	534	c.417C>T	c.(415-417)ATC>ATT	p.I139I	KCTD6_uc003dki.3_Silent_p.I139I|KCTD6_uc003dkk.3_Silent_p.I139I	NM_001128214	NP_001121686	Q8NC69	KCTD6_HUMAN	potassium channel tetramerisation domain	139						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TGGCTGTCATCATAACGCAAC	0.423													T	58487062	C	T	58487062	2	4	251	1	0	0	0	0	0	0	0	1	8113	816	29	4		4	KCTD6	3	58487062	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08	8339202	58487062	139535368	24	125442											
WDR49	151790	broad.mit.edu	37	chr3	167223127	167223127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttataacttcaccataataaGgtttttgtgtttctttcatg	5	6	3	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr3:167223127G>T	uc003fev.1	-	13	2102	c.1796C>A	c.(1795-1797)CCT>CAT	p.P599H	WDR49_uc003feu.1_Missense_Mutation_p.P424H|WDR49_uc011bpd.1_Missense_Mutation_p.P564H|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	599										large_intestine(1)|ovary(1)|skin(1)	3						ACCATAATAAGGTTTTTGTGT	0.259													T	167223127	G	T	167223127	3	4	251	1	0	0	0	0	1	0	0	0	17299	1000	35	5	309	5	WDR49	3	167223127	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	108736065	167223127	30799303	25	125443											
AASDH	132949	broad.mit.edu	37	chr4	57221393	57221393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatcctataaatggtcGcccaacttgatacctctgtg	8	11	1	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr4:57221393G>A	uc003hbn.2	-	6	1211	c.1058C>T	c.(1057-1059)GCG>GTG	p.A353V	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.A200V|AASDH_uc003hbo.2_Missense_Mutation_p.A253V|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.A353V|AASDH_uc003hbp.2_Missense_Mutation_p.A353V	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	353					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ATAAATGGTCGCCCAACTTGA	0.373													A	57221393	G	A	57221393	3	1	251	1	0	0	0	0	1	0	0	0	22	1087	38	1	2278	1	AASDH	4	57221393	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		57221393	133932883	26	125444											
LRRC14B	389257	broad.mit.edu	37	chr5	195112	195112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccagctcaagttcctcGggaacccgctgtcggcccgc	12	17	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:195112G>A	uc003jal.1	+	2	1217	c.1189G>A	c.(1189-1191)GGG>AGG	p.G397R		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	397	LRR 5.									skin(1)	1						CAAGTTCCTCGGGAACCCGCT	0.662													A	195112	G	A	195112	3	1	251	1	0	0	0	0	1	0	0	0	8969	1116	39	1	1195	1	LRRC14B	5	195112	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		195112	180720148	27	125445											
PDZD2	23037	broad.mit.edu	37	chr5	32088031	32088031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctgctggtgcccccGcctacccacaatgggcctcc	11	19	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:32088031G>A	uc003jhl.2	+	20	4865	c.4477G>A	c.(4477-4479)GCC>ACC	p.A1493T	PDZD2_uc003jhm.2_Missense_Mutation_p.A1493T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1493					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TGGTGCCCCCGCCTACCCACA	0.592													A	32088031	G	A	32088031	3	1	251	1	0	0	0	0	1	0	0	0	11701	1087	38	1	4551	1	PDZD2	5	32088031	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	31892919	32088031	148827229	28	125446											
DEPDC1B	55789	broad.mit.edu	37	chr5	59983029	59983029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtaacggcatcttagcaCgaaaaagctccacggtctca	8	13	2	0	rs141738735		TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:59983029C>T	uc003jsh.2	-	2	147	c.74G>A	c.(73-75)CGT>CAT	p.R25H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R25H|DEPDC1B_uc011cqn.1_Translation_Start_Site	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	25	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CATCTTAGCACGAAAAAGCTC	0.428													T	59983029	C	T	59983029	3	4	251	1	0	0	0	0	1	0	0	0	4440	536	19	1	1555	1	DEPDC1B	5	59983029	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	27894998	59983029	120932231	29	125447											
MAP1B	4131	broad.mit.edu	37	chr5	71495792	71495792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatggacccacctccagctCccgtgcaagaccgcagccct	8	19	0	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:71495792C>T	uc003kbw.3	+	5	6851	c.6610C>T	c.(6610-6612)CCC>TCC	p.P2204S	MAP1B_uc010iyw.1_Missense_Mutation_p.P2221S|MAP1B_uc010iyx.1_Missense_Mutation_p.P2078S|MAP1B_uc010iyy.1_Missense_Mutation_p.P2078S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2204						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		ACCTCCAGCTCCCGTGCAAGA	0.567													T	71495792	C	T	71495792	3	4	251	1	0	0	0	0	1	0	0	0	9228	855	30	4	6628	4	MAP1B	5	71495792	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	11512763	71495792	109419468	30	125448											
PCDHB7	56129	broad.mit.edu	37	chr5	140554549	140554549	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcgtggcggtgcggctGtgcaggaggagcagggcggc	21	9	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:140554549G>T	uc003lit.2	+	1	2307	c.2133G>T	c.(2131-2133)CTG>CTT	p.L711L	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	711	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGCGGCTGTGCAGGAGGA	0.682													T	140554549	G	T	140554549	2	4	251	1	0	0	0	0	0	0	0	1	11547	1364	48	5		5	PCDHB7	5	140554549	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08	69058757	140554549	40360711	31	125449											
PCDHB8	56128	broad.mit.edu	37	chr5	140558070	140558070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagtcctcctgggactgCgtttcctctgaagaatgctg	12	11	1	2	rs17844484		TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:140558070C>T	uc011dai.1	+	1	641	c.455C>T	c.(454-456)GCG>GTG	p.A152V	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	152	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGGACTGCGTTTCCTCTG	0.433													T	140558070	C	T	140558070	3	4	251	1	0	0	0	0	1	0	0	0	11548	768	27	1	457	1	PCDHB8	5	140558070	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	3521	140558070	40357190	32	125450											
PCDHB9	56127	broad.mit.edu	37	chr5	140568480	140568480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggctttcgacttccGcgtgggcgcctcagaccgcg	13	16	1	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:140568480G>A	uc003liw.1	+	3	1589	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGACTTCCGCGTGGGCGCC	0.667													A	140568480	G	A	140568480	3	1	251	1	0	0	0	0	1	0	0	0	11549	1087	38	1	1590	1	PCDHB9	5	140568480	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	10410	140568480	40346780	33	125451											
PPP2R2B	5521	broad.mit.edu	37	chr5	145980014	145980014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcttggatcttccggcTcttcaaaaactgcagaacaa	8	10	3	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:145980014T>C	uc003loe.2	-	7	1325	c.800A>G	c.(799-801)GAG>GGG	p.E267G	PPP2R2B_uc010jgm.2_Missense_Mutation_p.E256G|PPP2R2B_uc003log.3_Missense_Mutation_p.E267G|PPP2R2B_uc003lof.3_Missense_Mutation_p.E267G|PPP2R2B_uc003loi.3_Missense_Mutation_p.E270G|PPP2R2B_uc003loh.3_Missense_Mutation_p.E267G|PPP2R2B_uc003loj.3_Missense_Mutation_p.E247G|PPP2R2B_uc003lok.3_Missense_Mutation_p.E256G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.E273G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.E325G	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	267					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTTCCGGCTCTTCAAAAAC	0.413													C	145980014	T	C	145980014	3	2	251	1	0	0	0	0	1	0	0	0	12385	1551	54	3	543	3	PPP2R2B	5	145980014	Missense_Mutation	SNP	T	TCGA-HF-7133-01A-11D-2053-08	5411534	145980014	34935246	34	125452											
DOCK2	1794	broad.mit.edu	37	chr5	169445986	169445986	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaacaaaatctgcttcatCccaggcatggtaggacctat	8	11	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr5:169445986C>T	uc003maf.2	+	33	3335	c.3255C>T	c.(3253-3255)ATC>ATT	p.I1085I	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.I577I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1085	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			ovary(5)|pancreas(2)	7	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)			TCTGCTTCATCCCAGGCATGG	0.488													T	169445986	C	T	169445986	2	4	251	1	0	0	0	0	0	0	0	1	4687	845	30	4		4	DOCK2	5	169445986	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08	23465972	169445986	11469274	35	125453											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217505	26217505	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aataagcttctaggtcgcgtGaccatcgcgcagggcggtgt	14	10	1	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:26217505G>C	uc003nha.1	+	1	358	c.303G>C	c.(301-303)GTG>GTC	p.V101V	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	101					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				TAGGTCGCGTGACCATCGCGC	0.577													C	26217505	G	C	26217505	2	2	251	1	0	0	0	0	0	0	0	1	7132	1277	45	5		5	HIST1H2AE	6	26217505	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08		26217505	144897562	36	125454											
BAT3	7917	broad.mit.edu	37	chr6	31614268	31614268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgctgtagctcctggAgcacctcgacatactccgca	9	17	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:31614268A>G	uc003nvg.3	-	8	1153	c.839T>C	c.(838-840)CTC>CCC	p.L280P	BAT3_uc003nvf.3_Missense_Mutation_p.L274P|BAT3_uc003nvh.3_Missense_Mutation_p.L274P|BAT3_uc003nvi.3_Missense_Mutation_p.L274P|BAT3_uc011dnw.1_Missense_Mutation_p.L274P|BAT3_uc011dnx.1_Missense_Mutation_p.L274P|BAT3_uc003nvj.1_Missense_Mutation_p.L274P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	280	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						TAGCTCCTGGAGCACCTCGAC	0.582													G	31614268	A	G	31614268	3	3	251	1	0	0	0	0	1	0	0	0	1322	304	11	3	2631	3	BAT3	6	31614268	Missense_Mutation	SNP	A	TCGA-HF-7133-01A-11D-2053-08	5396763	31614268	139500799	37	125455											
ZNF318	24149	broad.mit.edu	37	chr6	43305127	43305127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtaatggccccaactcCagggaactacatttagaagg	10	10	0	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:43305127C>T	uc003oux.2	-	10	6687	c.6609G>A	c.(6607-6609)CTG>CTA	p.L2203L	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2203					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCCCCAACTCCAGGGAACTAC	0.468													T	43305127	C	T	43305127	2	4	251	1	0	0	0	0	0	0	0	1	17833	581	21	4		4	ZNF318	6	43305127	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08	11690859	43305127	127809940	38	125456											
DST	667	broad.mit.edu	37	chr6	56416992	56416992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttccctaccttgaacatgTtaagctgctgattaattgtc	7	9	0	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:56416992T>G	uc003pdf.2	-	55	10269	c.10241A>C	c.(10240-10242)AAC>ACC	p.N3414T	DST_uc003pcz.3_Missense_Mutation_p.N3236T|DST_uc011dxj.1_Missense_Mutation_p.N3265T|DST_uc011dxk.1_Missense_Mutation_p.N3276T|DST_uc003pcy.3_Missense_Mutation_p.N2910T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5322	Spectrin 7.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTGAACATGTTAAGCTGCTG	0.358													G	56416992	T	G	56416992	3	3	251	1	0	0	0	0	1	0	0	0	4783	1725	60	5	6958	5	DST	6	56416992	Missense_Mutation	SNP	T	TCGA-HF-7133-01A-11D-2053-08	13111865	56416992	114698075	39	125457											
GRM1	2911	broad.mit.edu	37	chr6	146755495	146755495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgatcccggattttcacGcggtgctggcaggccccggt	14	15	1	0	rs140795616		TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:146755495G>A	uc010khw.1	+	9	3618	c.3148G>A	c.(3148-3150)GCG>ACG	p.A1050T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1050	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGATTTTCACGCGGTGCTGGC	0.667													A	146755495	G	A	146755495	3	1	251	1	0	0	0	0	1	0	0	0	6796	1087	38	1	3243	1	GRM1	6	146755495	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	90338503	146755495	24359572	40	125458											
LRP11	84918	broad.mit.edu	37	chr6	150158579	150158579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagaagaagtggtagcGtgagcaagtgtgcaaacatc	13	7	1	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr6:150158579G>A	uc003qng.2	-	4	1258	c.934C>T	c.(934-936)CGC>TGC	p.R312C	LRP11_uc003qnh.1_Missense_Mutation_p.R312C	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	312	Extracellular (Potential).|LDL-receptor class A.					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGTAGCGTGAGCAAGTG	0.507													A	150158579	G	A	150158579	3	1	251	1	0	0	0	0	1	0	0	0	8953	1145	40	1	584	1	LRP11	6	150158579	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	3403084	150158579	20956488	41	125459											
SDK1	221935	broad.mit.edu	37	chr7	4088991	4088991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacagtgcccaccgcgCccccgcagaacgtgcagacg	11	19	0	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:4088991C>T	uc003smx.2	+	18	2753	c.2614C>T	c.(2614-2616)CCC>TCC	p.P872S	SDK1_uc010kso.2_Missense_Mutation_p.P148S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	872	Fibronectin type-III 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GCCCACCGCGCCCCCGCAGAA	0.567													T	4088991	C	T	4088991	3	4	251	1	0	0	0	0	1	0	0	0	13968	739	26	2	2684	2	SDK1	7	4088991	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08		4088991	155049672	42	125460											
ZNF394	84124	broad.mit.edu	37	chr7	99091995	99091996	+	Frame_Shift_Del	DEL	AG	AG	-													ttctgcaattcattatttttAgagtcttccccttctatgga							TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:99091994_99091995TAG>T	uc003uqs.3	-	2	1004_1005	c.843_844CTA>A	c.(841-846)tctaaafs	p.S281fs	ZNF394_uc003uqt.3_Frame_Shift_Del_p.S74fs	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	281					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)					TCATTATTTTTAGAGTCTTCCC	0.465													-	99091996	AG	-	99091995	7	5	251	1	0	1	0	1	0	0	0	0	17877	407	15	0	846	0	ZNF394	7	99091995	Frame_Shift_Del	DEL	AG	TCGA-HF-7133-01A-11D-2053-08	95003004	99091995	60046668	43	125461											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757823	99757823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggcctctcggcgagcccGgagctcggccacagctgtct	14	15	2	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:99757823G>A	uc003utt.2	-	3	2206	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R397W|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R335W	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	397	Lumenal (Potential).				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			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGCGAGCCCGGAGCTCGGCC	0.607													A	99757823	G	A	99757823	3	1	251	1	0	0	0	0	1	0	0	0	6200	1115	39	1	275	1	GAL3ST4	7	99757823	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	665828	99757823	59380840	44	125462											
C7orf51	222950	broad.mit.edu	37	chr7	100086807	100086807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctggggagccaaagaCggagaaggagatctcggtcc	18	8	1	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:100086807C>T	uc003uvd.1	+	4	1622	c.1463C>T	c.(1462-1464)ACG>ATG	p.T488M	C7orf51_uc003uve.1_Missense_Mutation_p.T270M	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	488										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCCAAAGACGGAGAAGGAG	0.642													T	100086807	C	T	100086807	3	4	251	1	0	0	0	0	1	0	0	0	2400	536	19	1	1473	1	C7orf51	7	100086807	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	328984	100086807	59051856	45	125463											
GIMAP8	155038	broad.mit.edu	37	chr7	150171184	150171184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctccttgtggggaaacGcggtgctggaaaaagtgcag	15	8	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr7:150171184G>A	uc003whj.2	+	4	1097	c.767G>A	c.(766-768)CGC>CAC	p.R256H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGGGGAAACGCGGTGCTGGA	0.557													A	150171184	G	A	150171184	3	1	251	1	0	0	0	0	1	0	0	0	6385	1087	38	1	777	1	GIMAP8	7	150171184	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	50084377	150171184	8967479	46	125464											
DUSP26	78986	broad.mit.edu	37	chr8	33454943	33454943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcatctcctccagggTccctcgagttcgaacaggag	13	12	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:33454943T>C	uc003xjp.2	-	2	424	c.91A>G	c.(91-93)ACC>GCC	p.T31A	DUSP26_uc003xjq.2_Missense_Mutation_p.T31A	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	31						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCCTCCAGGGTCCCTCGAGTT	0.542													C	33454943	T	C	33454943	3	2	251	1	0	0	0	0	1	0	0	0	4823	1667	58	3	556	3	DUSP26	8	33454943	Missense_Mutation	SNP	T	TCGA-HF-7133-01A-11D-2053-08		33454943	112909079	47	125465											
RSPO2	340419	broad.mit.edu	37	chr8	108972950	108972950	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcaaaaccatctggacattCatcaaagcaacggcctctat	6	12	4	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:108972950C>A	uc003yms.2	-	4	1037	c.379G>T	c.(379-381)GAA>TAA	p.E127*	RSPO2_uc003ymq.2_Nonsense_Mutation_p.E60*|RSPO2_uc003ymr.2_Nonsense_Mutation_p.E64*	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	127	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.E127V(1)		skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCTGGACATTCATCAAAGCAA	0.368													A	108972950	C	A	108972950	4	1	251	1	0	0	0	0	0	1	0	0	13710	835	29	5	364	5	RSPO2	8	108972950	Nonsense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	75518007	108972950	37391072	48	125466											
KCNQ3	3786	broad.mit.edu	37	chr8	133492525	133492525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggtcttggccaggagcccGatgccctgcggggtcctccg	17	14	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:133492525G>A	uc003ytj.2	-	1	480	c.255C>T	c.(253-255)ATC>ATT	p.I85I	KCNQ3_uc010mdt.2_Silent_p.I85I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	85					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCAGGAGCCCGATGCCCTGCG	0.682													A	133492525	G	A	133492525	2	1	251	1	0	0	0	0	0	0	0	1	8084	1048	37	1		1	KCNQ3	8	133492525	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08	24519575	133492525	12871497	49	125467											
TMEM71	137835	broad.mit.edu	37	chr8	133759333	133759333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagagaagaaaaggaatgGcagattctctttttctttct	9	5	3	4			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:133759333G>A	uc003ytp.2	-	5	571	c.342C>T	c.(340-342)TGC>TGT	p.C114C	TMEM71_uc003ytm.1_5'UTR|TMEM71_uc003ytn.2_Intron|TMEM71_uc003yto.2_Silent_p.C114C	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	114						integral to membrane				ovary(2)	2	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)			AAAAGGAATGGCAGATTCTCT	0.383													A	133759333	G	A	133759333	2	1	251	1	0	0	0	0	0	0	0	1	16197	1195	42	2		2	TMEM71	8	133759333	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08	266808	133759333	12604689	50	125468											
CYP11B1	1584	broad.mit.edu	37	chr8	143957257	143957257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcacgttggggttccgaGccagctcaaagagcgtcatc	13	12	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr8:143957257G>A	uc003yxi.2	-	6	999	c.992C>T	c.(991-993)GCT>GTT	p.A331V	CYP11B1_uc010mex.2_Missense_Mutation_p.A7V|CYP11B1_uc003yxh.2_Missense_Mutation_p.A47V|CYP11B1_uc003yxj.2_Missense_Mutation_p.A331V|CYP11B1_uc010mey.2_Missense_Mutation_p.A402V	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	331					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			ovary(3)	3	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)	GGGGTTCCGAGCCAGCTCAAA	0.647									Familial_Hyperaldosteronism_type_I				A	143957257	G	A	143957257	3	1	251	1	0	0	0	0	1	0	0	0	4145	971	34	2	535	2	CYP11B1	8	143957257	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	10197924	143957257	2406765	51	125469											
SMC5	23137	broad.mit.edu	37	chr9	72874089	72874089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggaggtcccgagcaagaGgaagaattcggccccgcagc	15	12	0	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr9:72874089G>A	uc004ahr.2	+	1	212	c.95G>A	c.(94-96)AGG>AAG	p.R32K	uc004ahq.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	32					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CCGAGCAAGAGGAAGAATTCG	0.607													A	72874089	G	A	72874089	3	1	251	1	0	0	0	0	1	0	0	0	14786	1000	35	4	97	4	SMC5	9	72874089	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		72874089	68339342	52	125470											
KCNT1	57582	broad.mit.edu	37	chr9	138671263	138671263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccttccaacatgcgcttcAtgcagttccgcgccaaggac	8	16	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr9:138671263A>G	uc011mdq.1	+	24	2862	c.2788A>G	c.(2788-2790)ATG>GTG	p.M930V	KCNT1_uc011mdr.1_Missense_Mutation_p.M757V|KCNT1_uc010nbf.2_Missense_Mutation_p.M885V|KCNT1_uc004cgo.1_Missense_Mutation_p.M679V	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	930						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATGCGCTTCATGCAGTTCCG	0.627													G	138671263	A	G	138671263	3	3	251	1	0	0	0	0	1	0	0	0	8091	217	8	3	2882	3	KCNT1	9	138671263	Missense_Mutation	SNP	A	TCGA-HF-7133-01A-11D-2053-08	65797174	138671263	2542168	53	125471											
ARHGAP22	58504	broad.mit.edu	37	chr10	49654578	49654578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcagctttatttccagCatgatgtattttttcttttc	5	9	1	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr10:49654578C>T	uc001jgt.2	-	10	2250	c.1953G>A	c.(1951-1953)ATG>ATA	p.M651I	ARHGAP22_uc001jgs.2_Missense_Mutation_p.M561I|ARHGAP22_uc001jgu.2_Missense_Mutation_p.M667I|ARHGAP22_uc010qgl.1_Missense_Mutation_p.M608I|ARHGAP22_uc010qgm.1_Missense_Mutation_p.M657I|ARHGAP22_uc001jgv.2_Missense_Mutation_p.M349I|ARHGAP22_uc001jgr.2_Missense_Mutation_p.M368I	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	651	Potential.				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			ovary(1)	1						TTATTTCCAGCATGATGTATT	0.488													T	49654578	C	T	49654578	3	4	251	1	0	0	0	0	1	0	0	0	872	710	25	2	147	2	ARHGAP22	10	49654578	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08		49654578	85880169	54	125472											
DHX32	55760	broad.mit.edu	37	chr10	127525345	127525345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacacaggggataggtgatCcactacttgctgtagaatgt	12	7	0	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr10:127525345C>T	uc001ljf.1	-	11	2634	c.2143G>A	c.(2143-2145)GAT>AAT	p.D715N	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.D339N|DHX32_uc001ljg.1_Missense_Mutation_p.D715N|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	715						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATAGGTGATCCACTACTTGC	0.423													T	127525345	C	T	127525345	3	4	251	1	0	0	0	0	1	0	0	0	4505	855	30	4	92	4	DHX32	10	127525345	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	77870767	127525345	8009402	55	125473											
INPP5A	3632	broad.mit.edu	37	chr10	134459401	134459401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacaagccgcacttcatGgccttgcactgtcaggagtt	9	13	2	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr10:134459401G>A	uc001llp.2	+	3	395	c.147G>A	c.(145-147)ATG>ATA	p.M49I	INPP5A_uc001llo.1_Missense_Mutation_p.M49I|INPP5A_uc001llq.2_Missense_Mutation_p.M1I	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	49					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			skin(1)	1		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)		CGCACTTCATGGCCTTGCACT	0.597													A	134459401	G	A	134459401	3	1	251	1	0	0	0	0	1	0	0	0	7754	1348	47	4	157	4	INPP5A	10	134459401	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	6934056	134459401	1075346	56	125474											
MUC5B	727897	broad.mit.edu	37	chr11	1159361	1159361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacttctcaacgtttgaCgggaagcaatacacggtgca	10	12	1	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:1159361C>T	uc009ycr.1	+	12	1464	c.1338C>T	c.(1336-1338)GAC>GAT	p.D446D		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	437	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CAACGTTTGACGGGAAGCAAT	0.647													T	1159361	C	T	1159361	2	4	251	1	0	0	0	0	0	0	0	1	9979	551	19	1		1	MUC5B	11	1159361	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08		1159361	133847155	57	125475											
OR52B4	143496	broad.mit.edu	37	chr11	4389175	4389175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaaaggccatcaccagCaagatccctgactcagagat	9	12	3	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:4389175C>A	uc010qye.1	-	1	351	c.351G>T	c.(349-351)TTG>TTT	p.L117F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCACCAGCAAGATCCCTG	0.468													A	4389175	C	A	4389175	3	1	251	1	0	0	0	0	1	0	0	0	11112	709	25	5	597	5	OR52B4	11	4389175	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	3229814	4389175	130617341	58	125476											
NELL1	4745	broad.mit.edu	37	chr11	21135238	21135238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccaggatacattcgTgtggatgacttctcttgtac	10	9	1	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:21135238T>C	uc001mqe.2	+	13	1557	c.1404T>C	c.(1402-1404)CGT>CGC	p.R468R	NELL1_uc001mqf.2_Silent_p.R468R|NELL1_uc009yid.2_Silent_p.R496R|NELL1_uc010rdo.1_Silent_p.R411R|NELL1_uc010rdp.1_Silent_p.R228R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	468	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GATACATTCGTGTGGATGACT	0.408													C	21135238	T	C	21135238	2	2	251	1	0	0	0	0	0	0	0	1	10333	1683	59	3		3	NELL1	11	21135238	Silent	SNP	T	TCGA-HF-7133-01A-11D-2053-08	16746063	21135238	113871278	59	125477											
OR4A15	81328	broad.mit.edu	37	chr11	55135685	55135685	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tactgcatttgctcccaaaaTgattgttgacttgctctctg	7	10	1	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:55135685T>A	uc010rif.1	+	1	326	c.326T>A	c.(325-327)ATG>AAG	p.M109K		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	109	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCTCCCAAAATGATTGTTGAC	0.413													A	55135685	T	A	55135685	3	1	251	1	0	0	0	0	1	0	0	0	11040	1464	51	5	328	5	OR4A15	11	55135685	Missense_Mutation	SNP	T	TCGA-HF-7133-01A-11D-2053-08	34000447	55135685	79870831	60	125478											
SUV420H1	51111	broad.mit.edu	37	chr11	67926371	67926371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttttatacagaactactTtaggctctttcagtactaag	5	7	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:67926371T>C	uc001onm.1	-	11	1698	c.1442A>G	c.(1441-1443)AAA>AGA	p.K481R	SUV420H1_uc009yse.1_Missense_Mutation_p.K67R|SUV420H1_uc001onn.1_Missense_Mutation_p.K309R|SUV420H1_uc009ysf.2_Missense_Mutation_p.K241R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CAGAACTACTTTAGGCTCTTT	0.433													C	67926371	T	C	67926371	3	2	251	1	0	0	0	0	1	0	0	0	15411	1841	64	3	1219	3	SUV420H1	11	67926371	Missense_Mutation	SNP	T	TCGA-HF-7133-01A-11D-2053-08	12790686	67926371	67080145	61	125479											
SUV420H1	51111	broad.mit.edu	37	chr11	67926536	67926536	+	Frame_Shift_Del	DEL	G	G	-													ttatatgagttagcttagatGaggtagagttggaagaagct							TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr11:67926536delG	uc001onm.1	-	11	1533	c.1277delC	c.(1276-1278)TCAfs	p.S426fs	SUV420H1_uc009yse.1_Frame_Shift_Del_p.S12fs|SUV420H1_uc001onn.1_Frame_Shift_Del_p.S254fs|SUV420H1_uc009ysf.2_Frame_Shift_Del_p.S186fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TAGCTTAGATGAGGTAGAGTT	0.368													-	67926536	G	-	67926536	7	5	251	1	0	1	0	1	0	0	0	0	15411	1294	45	0	1384	0	SUV420H1	11	67926536	Frame_Shift_Del	DEL	G	TCGA-HF-7133-01A-11D-2053-08	165	67926536	67079980	62	125480											
CLSTN3	9746	broad.mit.edu	37	chr12	7293961	7293961	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctcatccacccacccCgaagggagcctgctctcatg	9	17	2	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:7293961C>T	uc001qsr.2	+	9	1725	c.1447C>T	c.(1447-1449)CGA>TGA	p.R483*	CLSTN3_uc001qss.2_Nonsense_Mutation_p.R495*	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	483	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						CCACCCACCCCGAAGGGAGCC	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7293961	C	T	7293961	4	4	251	1	0	0	0	0	0	1	0	0	3563	644	23	1	1481	1	CLSTN3	12	7293961	Nonsense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08		7293961	126557934	63	125481											
LST-3TM12	338821	broad.mit.edu	37	chr12	21205043	21205043	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagaaatagtccagtaAgatctcatgtagatgtacca	7	7	2	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:21205043A>T	uc010sin.1	+	9	1204	c.1204A>T	c.(1204-1206)AGA>TGA	p.R402*	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.R449*	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	402						membrane	transporter activity				0						TAGTCCAGTAAGATCTCATGT	0.249													T	21205043	A	T	21205043	4	4	251	1	0	0	0	0	0	1	0	0	9066	64	3	5	1238	5	LST-3TM12	12	21205043	Nonsense_Mutation	SNP	A	TCGA-HF-7133-01A-11D-2053-08	13911082	21205043	112646852	64	125482											
ABCC9	10060	broad.mit.edu	37	chr12	22061124	22061124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatccaagtaaattatagaGcagaatcacgcccattatga	7	8	1	4			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:22061124G>A	uc001rfi.1	-	9	1362	c.1342C>T	c.(1342-1344)CTC>TTC	p.L448F	ABCC9_uc001rfh.2_Missense_Mutation_p.L448F|ABCC9_uc001rfj.1_Missense_Mutation_p.L448F	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	448	Extracellular (Potential).|ABC transmembrane type-1 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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAATTATAGAGCAGAATCACG	0.423													A	22061124	G	A	22061124	3	1	251	1	0	0	0	0	1	0	0	0	59	971	34	2	3569	2	ABCC9	12	22061124	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	856081	22061124	111790771	65	125483											
CSRP2	1466	broad.mit.edu	37	chr12	77254166	77254166	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttagaagtgtttggAtttgttgtaggcctgtgagg	14	3	0	2			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:77254166A>G	uc001syl.1	-	4	392	c.309T>C	c.(307-309)AAT>AAC	p.N103N		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	103					multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						AAGTGTTTGGATTTGTTGTAG	0.428													G	77254166	A	G	77254166	2	3	251	1	0	0	0	0	0	0	0	1	3967	330	12	3		3	CSRP2	12	77254166	Silent	SNP	A	TCGA-HF-7133-01A-11D-2053-08	55193042	77254166	56597729	66	125484											
HAL	3034	broad.mit.edu	37	chr12	96387251	96387251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaatgtgagcgtactaaGttgacctgaagctccctgca	11	9	0	4			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr12:96387251G>A	uc001tem.1	-	8	864	c.567C>T	c.(565-567)AAC>AAT	p.N189N	HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Silent_p.N189N	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	189					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	AGCGTACTAAGTTGACCTGAA	0.438													A	96387251	G	A	96387251	2	1	251	1	0	0	0	0	0	0	0	1	6947	1020	36	4		4	HAL	12	96387251	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08	19133085	96387251	37464644	67	125485											
CPNE6	9362	broad.mit.edu	37	chr14	24542739	24542739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggtgcttcgctcctgttCcagccctgtcttctcccggg	11	15	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr14:24542739C>T	uc001wll.2	+	3	299	c.200C>T	c.(199-201)TCC>TTC	p.S67F	CPNE6_uc010tnv.1_Missense_Mutation_p.S122F|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	67	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		CGCTCCTGTTCCAGCCCTGTC	0.592													T	24542739	C	T	24542739	3	4	251	1	0	0	0	0	1	0	0	0	3816	855	30	4	206	4	CPNE6	14	24542739	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08		24542739	82806801	68	125486											
PYGL	5836	broad.mit.edu	37	chr14	51375622	51375622	+	Frame_Shift_Del	DEL	A	A	-													aagccattgtcaatttgatcAatgaccagcttcagctctgg							TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr14:51375621_51375621CA>C	uc001wyu.3	-	17	2357	c.2230_2230TG>G	c.(2230-2232)gatfs	p.D744fs	PYGL_uc010tqq.2_Frame_Shift_Del_p.D710fs	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	744					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)	TCAATTTGATCAATGACCAGC	0.433													-	51375622	A	-	51375622	7	5	251	1	0	1	0	1	0	0	0	0	12861	126	5	0	326	0	PYGL	14	51375622	Frame_Shift_Del	DEL	A	TCGA-HF-7133-01A-11D-2053-08	26832883	51375622	55973918	69	125487											
HERC2	8924	broad.mit.edu	37	chr15	28459349	28459349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgccaccacctcctccGccagtgtgctgctgtgggtg	13	15	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr15:28459349G>A	uc001zbj.2	-	41	6534	c.6428C>T	c.(6427-6429)GCG>GTG	p.A2143V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2143					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CACCTCCTCCGCCAGTGTGCT	0.647													A	28459349	G	A	28459349	3	1	251	1	0	0	0	0	1	0	0	0	7058	1087	38	1	8288	1	HERC2	15	28459349	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		28459349	74072043	70	125488											
AP3B2	8120	broad.mit.edu	37	chr15	83345298	83345298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgctgtgaatgacttgGccatttttcttaagacatca	7	10	3	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr15:83345298G>A	uc010uoh.1	-	14	1757	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V	AP3B2_uc010uoi.1_Missense_Mutation_p.A527V|AP3B2_uc010uoj.1_Missense_Mutation_p.A495V|AP3B2_uc010uog.1_Missense_Mutation_p.A163V	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	527					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAATGACTTGGCCATTTTTCT	0.507													A	83345298	G	A	83345298	3	1	251	1	0	0	0	0	1	0	0	0	745	1203	42	2	1720	2	AP3B2	15	83345298	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	54885949	83345298	19186094	71	125489											
ADAMTS17	170691	broad.mit.edu	37	chr15	100801697	100801697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttacctggtcacaaacaCggcagcatccaccaggggcg	10	14	2	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr15:100801697C>T	uc002bvv.1	-	6	1097	c.1018G>A	c.(1018-1020)GTG>ATG	p.V340M	ADAMTS17_uc002bvx.1_Missense_Mutation_p.V97M	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	340	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GTCACAAACACGGCAGCATCC	0.537													T	100801697	C	T	100801697	3	4	251	1	0	0	0	0	1	0	0	0	262	536	19	1	2337	1	ADAMTS17	15	100801697	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	17456399	100801697	1729695	72	125490											
GLYR1	84656	broad.mit.edu	37	chr16	4882012	4882012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggccgaccccgcttccGgggactttgctcttgggctc	15	14	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr16:4882012G>A	uc002cxx.3	-	5	542	c.505C>T	c.(505-507)CGG>TGG	p.R169W	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.R100W|GLYR1_uc002cya.2_Missense_Mutation_p.R169W|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	169	A.T hook.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						CCCCGCTTCCGGGGACTTTGC	0.502													A	4882012	G	A	4882012	3	1	251	1	0	0	0	0	1	0	0	0	6483	1115	39	1	1204	1	GLYR1	16	4882012	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		4882012	85472741	73	125491											
ZNF768	79724	broad.mit.edu	37	chr16	30537361	30537361	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatttcctcttcctcattctCactcatgttgcctgcaggat	5	13	4	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr16:30537361C>G	uc002dyk.3	-	2	276	c.100G>C	c.(100-102)GAG>CAG	p.E34Q	ZNF768_uc010vex.1_Missense_Mutation_p.E3Q|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.E3Q	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	34	Poly-Glu.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						TCCTCATTCTCACTCATGTTG	0.413													G	30537361	C	G	30537361	3	3	251	1	0	0	0	0	1	0	0	0	18138	835	29	5	1526	5	ZNF768	16	30537361	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	25655349	30537361	59817392	74	125492											
ANKRD13B	124930	broad.mit.edu	37	chr17	27936185	27936185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactggctgggcaggaccGggagctgctgctggctgctg	19	11	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr17:27936185G>A	uc002hei.2	+	6	760	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	ANKRD13B_uc002heh.2_Missense_Mutation_p.R84Q|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	216											0						GGGCAGGACCGGGAGCTGCTG	0.627													A	27936185	G	A	27936185	3	1	251	1	0	0	0	0	1	0	0	0	642	1116	39	1	669	1	ANKRD13B	17	27936185	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08		27936185	53259025	75	125493											
CLTC	1213	broad.mit.edu	37	chr17	57744325	57744325	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	attgaactttttgaatctttCaagagttttgaaggtaatta	7	3	2	4			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr17:57744325C>G	uc002ixq.1	+	13	2558	c.2115C>G	c.(2113-2115)TTC>TTG	p.F705L	CLTC_uc002ixp.2_Missense_Mutation_p.F705L|CLTC_uc002ixr.1_Missense_Mutation_p.F709L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	705	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)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGAATCTTTCAAGAGTTTTG	0.358			T	ALK|TFE3	ALCL|renal 								G	57744325	C	G	57744325	3	3	251	1	0	0	0	0	1	0	0	0	3566	825	29	5	2165	5	CLTC	17	57744325	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	29808140	57744325	23450885	76	125494											
INO80C	125476	broad.mit.edu	37	chr18	33077741	33077741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgccatagcccccgccgCtgctgccattgtgggaaggg	15	14	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr18:33077741C>T	uc002kyy.3	-	1	215	c.98G>A	c.(97-99)AGC>AAC	p.S33N	INO80C_uc002kyw.1_Missense_Mutation_p.S33N|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Missense_Mutation_p.S33N	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	33					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						GCCCCCGCCGCTGCTGCCATT	0.627													T	33077741	C	T	33077741	3	4	251	1	0	0	0	0	1	0	0	0	7748	797	28	2	616	2	INO80C	18	33077741	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08		33077741	44999507	77	125495											
TUBB4	10382	broad.mit.edu	37	chr19	6495529	6495529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgctcagcatctgctcGtccacctccttcatggacat	7	16	3	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr19:6495529G>A	uc002mfg.1	-	4	1088	c.981C>T	c.(979-981)GAC>GAT	p.D327D	TUBB4_uc002mff.1_Silent_p.D255D|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	327					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GCATCTGCTCGTCCACCTCCT	0.657													A	6495529	G	A	6495529	2	1	251	1	0	0	0	0	0	0	0	1	16755	1136	40	1		1	TUBB4	19	6495529	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08		6495529	52633454	78	125496											
GRIK5	2901	broad.mit.edu	37	chr19	42546812	42546812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcggaagcgcagcagctcGgccagctcccgcagcatgtc	13	15	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr19:42546812G>A	uc002osj.1	-	11	1400	c.1365C>T	c.(1363-1365)GCC>GCT	p.A455A	GRIK5_uc002osi.1_Silent_p.A27A|GRIK5_uc010eib.1_Silent_p.A374A	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	455	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCAGCAGCTCGGCCAGCTCCC	0.682													A	42546812	G	A	42546812	2	1	251	1	0	0	0	0	0	0	0	1	6777	1103	39	1		1	GRIK5	19	42546812	Silent	SNP	G	TCGA-HF-7133-01A-11D-2053-08	36051283	42546812	16582171	79	125497											
PRNP	5621	broad.mit.edu	37	chr20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggggccttggcggctacAtgctgggaagtgccatgagc	18	9	0	1	rs1799990	byFrequency	TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:4680251A>G	uc002wku.2	+	2	748	c.385A>G	c.(385-387)ATG>GTG	p.M129V	PRNP_uc002wkv.2_Missense_Mutation_p.M129V|PRNP_uc002wkw.2_Missense_Mutation_p.M129V|PRNP_uc002wkx.2_Missense_Mutation_p.M129V|PRNP_uc002wkt.1_Missense_Mutation_p.M99V|PRNP_uc002wky.2_Missense_Mutation_p.M129V|PRNP_uc010gbe.1_Missense_Mutation_p.M129V	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).				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	p.M129V(1)		central_nervous_system(1)	1					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547													G	4680251	A	G	4680251	3	3	251	1	0	0	0	0	1	0	0	0	12544	217	8	3	387	3	PRNP	20	4680251	Missense_Mutation	SNP	A	TCGA-HF-7133-01A-11D-2053-08		4680251	58345269	80	125498											
C20orf186	149954	broad.mit.edu	37	chr20	31692670	31692670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctggcattcatgcccGcaatgaacggtgagagcggg	14	10	1	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:31692670G>A	uc010zue.1	+	14	1750	c.1735G>A	c.(1735-1737)GCA>ACA	p.A579T		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	579						cytoplasm|extracellular region	lipid binding				0						ATTCATGCCCGCAATGAACGG	0.572													A	31692670	G	A	31692670	3	1	251	1	0	0	0	0	1	0	0	0	2098	1087	38	1	1789	1	C20orf186	20	31692670	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	27012419	31692670	31332850	81	125499											
R3HDML	140902	broad.mit.edu	37	chr20	42979392	42979392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcaatagcaacatgtGcttcaaggggctgaaatcca	10	10	1	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:42979392G>A	uc002xls.1	+	5	894	c.722G>A	c.(721-723)TGC>TAC	p.C241Y		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	241						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAACATGTGCTTCAAGGGG	0.557													A	42979392	G	A	42979392	3	1	251	1	0	0	0	0	1	0	0	0	12889	1319	46	2	740	2	R3HDML	20	42979392	Missense_Mutation	SNP	G	TCGA-HF-7133-01A-11D-2053-08	11286722	42979392	20046128	82	125500											
GTPBP5	26164	broad.mit.edu	37	chr20	60770905	60770905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgtctgtggaggaaaCggaggcgctggggcaagctg	19	7	1	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:60770905C>T	uc002yce.3	+	3	290	c.252C>T	c.(250-252)AAC>AAT	p.N84N	GTPBP5_uc011aab.1_Translation_Start_Site|GTPBP5_uc011aac.1_Translation_Start_Site|GTPBP5_uc011aad.1_Translation_Start_Site|GTPBP5_uc011aae.1_Translation_Start_Site|GTPBP5_uc011aaf.1_Silent_p.N84N|GTPBP5_uc011aag.1_Silent_p.N84N	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	84	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			GTGGAGGAAACGGAGGCGCTG	0.542													T	60770905	C	T	60770905	2	4	251	1	0	0	0	0	0	0	0	1	6883	535	19	1		1	GTPBP5	20	60770905	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08	17791513	60770905	2254615	83	125501											
GTPBP5	26164	broad.mit.edu	37	chr20	60773769	60773769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagatgagtacattgccgCgctgggcggggcaggaggga	21	7	0	2	rs138156304	byFrequency	TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr20:60773769C>T	uc002yce.3	+	5	586	c.548C>T	c.(547-549)GCG>GTG	p.A183V	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Intron|GTPBP5_uc011aag.1_Missense_Mutation_p.A183V	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	183	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			TACATTGCCGCGCTGGGCGGG	0.637													T	60773769	C	T	60773769	3	4	251	1	0	0	0	0	1	0	0	0	6883	768	27	1	562	1	GTPBP5	20	60773769	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08	2864	60773769	2251751	84	125502											
HPS4	89781	broad.mit.edu	37	chr22	26868841	26868841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cattgtaaaaattaaagaatCcaactagctgatccagaaac	5	8	0	3			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr22:26868841C>A	uc003acl.2	-	5	1000	c.341G>T	c.(340-342)GGA>GTA	p.G114V	HPS4_uc003aci.2_Missense_Mutation_p.G109V|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.G114V|HPS4_uc003ach.2_5'Flank	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	114					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						ATTAAAGAATCCAACTAGCTG	0.398									Hermansky-Pudlak_syndrome				A	26868841	C	A	26868841	3	1	251	1	0	0	0	0	1	0	0	0	7341	855	30	5	1825	5	HPS4	22	26868841	Missense_Mutation	SNP	C	TCGA-HF-7133-01A-11D-2053-08		26868841	24435725	85	125503											
BRD1	23774	broad.mit.edu	37	chr22	50216631	50216631	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atataaggagcgcacacggtCggcaggaccgcgcagggctc	15	12	0	0			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chr22:50216631C>T	uc003biv.2	-	1	1822	c.1335G>A	c.(1333-1335)CCG>CCA	p.P445P	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.P445P|BRD1_uc011arh.1_Silent_p.P445P|BRD1_uc003biu.3_Silent_p.P445P	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	445					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGCACACGGTCGGCAGGACCG	0.572													T	50216631	C	T	50216631	2	4	251	1	0	0	0	0	0	0	0	1	1501	871	31	1		1	BRD1	22	50216631	Silent	SNP	C	TCGA-HF-7133-01A-11D-2053-08	23347790	50216631	1087935	86	125504											
USP51	158880	broad.mit.edu	37	chrX	55513295	55513295	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatacccttcactgtagagtAagtcctcaatggtagccttg	8	10	2	1			TCGA-HF-7133-01A-11D-2053-08	TCGA-HF-7133-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45f0380c-c656-45a9-9acf-0d747215a5ab	3f90f656-74aa-499c-b018-76cdb94030d0	g.chrX:55513295A>T	uc004dun.1	-	2	2157	c.2078T>A	c.(2077-2079)TTA>TAA	p.L693*	USP51_uc011moo.1_Nonsense_Mutation_p.L397*	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	693					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						ACTGTAGAGTAAGTCCTCAAT	0.428													T	55513295	A	T	55513295	4	4	251	1	0	0	0	0	0	1	0	0	17080	372	13	5	61	5	USP51	23	55513295	Nonsense_Mutation	SNP	A	TCGA-HF-7133-01A-11D-2053-08		55513295	99757265	87	125505											
B4GALT2	8704	broad.mit.edu	37	chr1	44450680	44450680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaacctataccgctgcggCgaccaaccccgccactttgc	8	19	0	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:44450680C>T	uc001clg.2	+	4	1063	c.693C>T	c.(691-693)GGC>GGT	p.G231G	B4GALT2_uc001clh.2_Silent_p.G165G|B4GALT2_uc010okl.1_Silent_p.G260G|B4GALT2_uc001cli.2_Silent_p.G231G	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	231	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ACCGCTGCGGCGACCAACCCC	0.612													T	44450680	C	T	44450680	2	4	252	1	0	0	0	0	0	0	0	1	1271	755	27	1		1	B4GALT2	1	44450680	Silent	SNP	C	TCGA-HF-7136-01A-11D-2053-08		44450680	204799941	1	125506											
DMRTB1	63948	broad.mit.edu	37	chr1	53925206	53925206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccgtcaagggacacgCgggcaaatgccgctggaagc	16	12	1	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:53925206C>T	uc001cvq.1	+	1	135	c.80C>T	c.(79-81)GCG>GTG	p.A27V		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	27	DM.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						AAGGGACACGCGGGCAAATGC	0.612													T	53925206	C	T	53925206	3	4	252	1	0	0	0	0	1	0	0	0	4590	768	27	1	82	1	DMRTB1	1	53925206	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	9474526	53925206	195325415	2	125507											
ELTD1	64123	broad.mit.edu	37	chr1	79470902	79470902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcaacaaagtggaaaaaaCcactaaataaaatagagaaa	5	5	1	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:79470902C>A	uc001diq.3	-	2	181	c.25G>T	c.(25-27)GTT>TTT	p.V9F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGGAAAAAACCACTAAATAA	0.318													A	79470902	C	A	79470902	3	1	252	1	0	0	0	0	1	0	0	0	5084	507	18	5	2103	5	ELTD1	1	79470902	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	25545696	79470902	169779719	3	125508											
PHTF1	10745	broad.mit.edu	37	chr1	114267498	114267499	+	Frame_Shift_Del	DEL	AC	AC	-													ctcggctcccatcaccatttAcagtttttcgtaattttcta							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:114267498_114267499delAC	uc009wgp.1	-	6	957_958	c.505_506delGT	c.(505-507)GTAfs	p.V169fs	PHTF1_uc001edn.2_Frame_Shift_Del_p.V169fs|PHTF1_uc010own.1_Frame_Shift_Del_p.V169fs	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	169						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)		ATCACCATTTACAGTTTTTCGT	0.332													-	114267499	AC	-	114267498	7	5	252	1	0	1	0	1	0	0	0	0	11862	391	14	0	1834	0	PHTF1	1	114267498	Frame_Shift_Del	DEL	AC	TCGA-HF-7136-01A-11D-2053-08	34796596	114267498	134983123	4	125509											
GJA8	2703	broad.mit.edu	37	chr1	147380211	147380211	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggcacggccgcagagttCgtgtggggggatgagcaatc	17	9	0	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:147380211C>T	uc001epu.1	+	2	192	c.129C>T	c.(127-129)TTC>TTT	p.F43F		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	43	Helical; (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592													T	147380211	C	T	147380211	2	4	252	1	0	0	0	0	0	0	0	1	6405	883	31	1		1	GJA8	1	147380211	Silent	SNP	C	TCGA-HF-7136-01A-11D-2053-08	33112713	147380211	101870410	5	125510											
KIAA0907	22889	broad.mit.edu	37	chr1	155884048	155884049	+	Frame_Shift_Del	DEL	TC	TC	-													cctcctcttcatcagatgaaTctgcagcataagccaccaag							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:155884047_155884048ATC>A	uc001fmi.1	-	13	1733_1734	c.1709_1710GAT>T	c.(1708-1710)gatfs	p.D570fs	RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	570										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)			CATCAGATGAATCTGCAGCATA	0.446													-	155884049	TC	-	155884048	7	5	252	1	0	1	0	1	0	0	0	0	8199	1435	50	0	139	0	KIAA0907	1	155884048	Frame_Shift_Del	DEL	TC	TCGA-HF-7136-01A-11D-2053-08	8503837	155884048	93366573	6	125511											
UBQLN4	56893	broad.mit.edu	37	chr1	156012626	156012626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctgcgcatgtagggtgctGagatcacattctgcatcagc	12	10	3	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:156012626G>A	uc001fna.2	-	7	1229	c.1205C>T	c.(1204-1206)TCA>TTA	p.S402L	UBQLN4_uc010pgx.1_Missense_Mutation_p.S382L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	402						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					GTAGGGTGCTGAGATCACATT	0.522													A	156012626	G	A	156012626	3	1	252	1	0	0	0	0	1	0	0	0	16896	1294	45	4	620	4	UBQLN4	1	156012626	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	128578	156012626	93237995	7	125512											
OR10J1	26476	broad.mit.edu	37	chr1	159409739	159409739	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcatccgaatggatcTtcatcttcacacacccatgt	5	14	5	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:159409739T>G	uc010piv.1	+	1	191	c.191T>G	c.(190-192)CTT>CGT	p.L64R	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	64	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CGAATGGATCTTCATCTTCAC	0.448													G	159409739	T	G	159409739	3	3	252	1	0	0	0	0	1	0	0	0	10910	1609	56	5	193	5	OR10J1	1	159409739	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08	3397113	159409739	89840882	8	125513											
HSPA6	3310	broad.mit.edu	37	chr1	161494681	161494682	+	Frame_Shift_Ins	INS	-	-	A													gccaagcggctgatcgggcgINScaagttcgcggacaccacgg							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:161494681_161494682insA	uc001gap.2	+	2	893_894	c.233_234insA	c.(232-234)CGCfs	p.R78fs	HSPA6_uc001gaq.2_Frame_Shift_Ins_p.R78fs	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	78					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGATCGGGCGCAAGTTCGCGG	0.688													A	161494682	-	A	161494681	7	5	252	1	0	1	1	0	0	0	0	0	7415	1087	38	0	235	0	HSPA6	1	161494681	Frame_Shift_Ins	INS	-	TCGA-HF-7136-01A-11D-2053-08	2084942	161494681	87755940	9	125514	653	2									
HSPA6	3310	broad.mit.edu	37	chr1	161494682	161494683	+	Frame_Shift_Ins	INS	-	-	A													ccaagcggctgatcgggcgcINSaagttcgcggacaccacggt							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:161494681_161494682G>GA	uc001gaq.3	+	0	646_647	c.233_234G>GA	c.(232-234)cgcfs	p.R78fs	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	78					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)			CTGATCGGGCGCAAGTTCGCGG	0.688													A	161494683	-	A	161494682	7	5	252	1	0	1	1	0	0	0	0	0	7415	697	25	0	236	0	HSPA6	1	161494682	Frame_Shift_Ins	INS	-	TCGA-HF-7136-01A-11D-2053-08	1	161494682	87755939	10	125515	653	2									
FCRLB	127943	broad.mit.edu	37	chr1	161693378	161693378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagacacggggagcacccGtcagtgaccccatccacctc	10	18	1	2	rs147870526		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:161693378G>A	uc001gbh.2	+	5	508	c.274G>A	c.(274-276)GTC>ATC	p.V92I	FCRLB_uc009wus.2_Missense_Mutation_p.V92I|FCRLB_uc001gbj.2_Missense_Mutation_p.V92I|FCRLB_uc001gbk.2_Missense_Mutation_p.V92I|FCRLB_uc001gbl.2_Missense_Mutation_p.V85I|FCRLB_uc001gbm.2_Missense_Mutation_p.V85I|FCRLB_uc001gbi.2_Missense_Mutation_p.V92I|FCRLB_uc001gbn.3_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	92	Ig-like C2-type 1.					endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGGAGCACCCGTCAGTGACCC	0.577													A	161693378	G	A	161693378	3	1	252	1	0	0	0	0	1	0	0	0	5801	1145	40	1	284	1	FCRLB	1	161693378	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	198696	161693378	87557243	11	125516											
KIAA1383	54627	broad.mit.edu	37	chr1	232943384	232943384	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaagctcatgatagcagttCaaggacagaaaatccaaaac	7	9	2	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:232943384C>T	uc001hvh.2	+	1	2747	c.2615C>T	c.(2614-2616)TCA>TTA	p.S872L		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	730	Ser-rich.									ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GATAGCAGTTCAAGGACAGAA	0.393													T	232943384	C	T	232943384	3	4	252	1	0	0	0	0	1	0	0	0	8228	838	29	4	2617	4	KIAA1383	1	232943384	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	71250006	232943384	16307237	12	125517											
KIF26B	55083	broad.mit.edu	37	chr1	245850350	245850350	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctttcaacaaagcagcCcccatcaaaggctgcaaaat	6	13	3	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:245850350C>A	uc001ibf.1	+	12	4505	c.4065C>A	c.(4063-4065)GCC>GCA	p.A1355A	KIF26B_uc001ibg.1_Silent_p.A973A|KIF26B_uc001ibh.1_Silent_p.A597A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1355					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			ACAAAGCAGCCCCCATCAAAG	0.547													A	245850350	C	A	245850350	2	1	252	1	0	0	0	0	0	0	0	1	8295	610	22	5		5	KIF26B	1	245850350	Silent	SNP	C	TCGA-HF-7136-01A-11D-2053-08	12906966	245850350	3400271	13	125518											
AHCTF1	25909	broad.mit.edu	37	chr1	247004253	247004253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccaagggggaaatcagcCgaatttctatgggaggaggt	15	6	2	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:247004253C>T	uc001ibu.1	-	35	6663	c.6656G>A	c.(6655-6657)CGG>CAG	p.R2219Q	AHCTF1_uc001ibv.1_Missense_Mutation_p.R2228Q|AHCTF1_uc009xgs.1_Silent_p.S1052S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	2219	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			ovary(5)|skin(2)	7	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)			GGAAATCAGCCGAATTTCTAT	0.393													T	247004253	C	T	247004253	3	4	252	1	0	0	0	0	1	0	0	0	408	652	23	1	148	1	AHCTF1	1	247004253	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	1153903	247004253	2246368	14	125519											
NRXN1	9378	broad.mit.edu	37	chr2	51255000	51255000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttggacttgacctccaCccacttggcctccacctggt	9	17	0	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:51255000C>A	uc010fbq.2	-	2	1889	c.412G>T	c.(412-414)GTG>TTG	p.V138L	NRXN1_uc002rxe.3_Missense_Mutation_p.V138L|NRXN1_uc002rxd.1_Missense_Mutation_p.V138L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGACCTCCACCCACTTGGCC	0.682													A	51255000	C	A	51255000	3	1	252	1	0	0	0	0	1	0	0	0	10665	507	18	5	4586	5	NRXN1	2	51255000	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		51255000	191944373	15	125520											
IL1RL2	8808	broad.mit.edu	37	chr2	102836364	102836364	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtctcttttcgggaacAtaatttgtacacagtaaaca	6	9	1	0	rs139096768	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:102836364A>T	uc002tbs.2	+	8	1004	c.878A>T	c.(877-879)CAT>CTT	p.H293L	IL1RL2_uc002tbt.2_Missense_Mutation_p.H175L	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	293	Extracellular (Potential).|Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						TTTCGGGAACATAATTTGTAC	0.358													T	102836364	A	T	102836364	3	4	252	1	0	0	0	0	1	0	0	0	7664	217	8	5	904	5	IL1RL2	2	102836364	Missense_Mutation	SNP	A	TCGA-HF-7136-01A-11D-2053-08	51581364	102836364	140363009	16	125521											
GLI2	2736	broad.mit.edu	37	chr2	121736090	121736090	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgcgggagcagaagccCttcaaggcgcagtacatgct	13	12	1	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:121736090C>A	uc010flp.2	+	9	1479	c.1449C>A	c.(1447-1449)CCC>CCA	p.P483P	GLI2_uc002tmq.1_Silent_p.P155P|GLI2_uc002tmr.1_Silent_p.P138P|GLI2_uc002tmt.3_Silent_p.P155P|GLI2_uc002tmu.3_Silent_p.P138P|GLI2_uc002tmw.1_Silent_p.P466P	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	483	C2H2-type 2; degenerate.				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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AGCAGAAGCCCTTCAAGGCGC	0.647													A	121736090	C	A	121736090	2	1	252	1	0	0	0	0	0	0	0	1	6438	668	24	5		5	GLI2	2	121736090	Silent	SNP	C	TCGA-HF-7136-01A-11D-2053-08	18899726	121736090	121463283	17	125522											
PDE1A	5136	broad.mit.edu	37	chr2	183129090	183129090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattcaatattcttctttaaGtcgacgacgttaacatcacc	4	10	4	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:183129090G>T	uc002uos.2	-	3	237	c.153C>A	c.(151-153)GAC>GAA	p.D51E	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.D51E|PDE1A_uc010zfq.1_Missense_Mutation_p.D51E|PDE1A_uc002uor.2_Missense_Mutation_p.D35E|PDE1A_uc002uov.1_RNA	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	51					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			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTTCTTTAAGTCGACGACGT	0.358													T	183129090	G	T	183129090	3	4	252	1	0	0	0	0	1	0	0	0	11633	1020	36	5	1584	5	PDE1A	2	183129090	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	61393000	183129090	60070283	18	125523											
CPS1	1373	broad.mit.edu	37	chr2	211473150	211473150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttccagaaattaagaacgTcgtatccgggaagacatcag	9	9	1	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:211473150T>C	uc002vee.3	+	19	2390	c.2258T>C	c.(2257-2259)GTC>GCC	p.V753A	CPS1_uc010fur.2_Missense_Mutation_p.V759A|CPS1_uc010fus.2_Missense_Mutation_p.V302A	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	753					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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTAAGAACGTCGTATCCGGG	0.423													C	211473150	T	C	211473150	3	2	252	1	0	0	0	0	1	0	0	0	3823	1667	58	3	2354	3	CPS1	2	211473150	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08	28344060	211473150	31726223	19	125524											
SH3BP4	23677	broad.mit.edu	37	chr2	235950502	235950502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccctgctggaccccccGctggagctcaacagtgacag	11	15	1	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:235950502G>A	uc002vvp.2	+	4	1482	c.1089G>A	c.(1087-1089)CCG>CCA	p.P363P	SH3BP4_uc010fym.2_Silent_p.P363P|SH3BP4_uc002vvq.2_Silent_p.P363P	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	363					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		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)		TGGACCCCCCGCTGGAGCTCA	0.597													A	235950502	G	A	235950502	2	1	252	1	0	0	0	0	0	0	0	1	14246	1074	38	1		1	SH3BP4	2	235950502	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	24477352	235950502	7248871	20	125525											
SCN11A	11280	broad.mit.edu	37	chr3	38888715	38888715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatcttcacccaaagggtCctcactttcttcagtggctg	8	13	6	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr3:38888715C>T	uc011ays.1	-	26	5045	c.4846G>A	c.(4846-4848)GAC>AAC	p.D1616N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1616					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCCAAAGGGTCCTCACTTTCT	0.368													T	38888715	C	T	38888715	3	4	252	1	0	0	0	0	1	0	0	0	13913	855	30	4	533	4	SCN11A	3	38888715	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		38888715	159133715	21	125526											
LPP	4026	broad.mit.edu	37	chr3	188242498	188242499	+	Missense_Mutation	DNP	GA	GA	TT													aggagaggcgctccagcctgGacgctgagattgactccttg							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr3:188242498_188242499GA>TT	uc003frs.1	+	5	598_599	c.352_353GA>TT	c.(352-354)GAC>TTC	p.D118F	LPP_uc011bsg.1_Missense_Mutation_p.D118F|LPP_uc011bsi.1_Missense_Mutation_p.D118F|LPP_uc003frt.2_Missense_Mutation_p.D118F	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	118	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	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)		CTCCAGCCTGGACGCTGAGATT	0.52			T	HMGA2|MLL|C12orf9	lipoma|leukemia								TT	188242499	GA	TT	188242498	3	4	252	1	0	0	0	0	1	0	0	0	8923	1174	41	5	362	5	LPP	3	188242498	Missense_Mutation	DNP	GA	TCGA-HF-7136-01A-11D-2053-08	149353783	188242498	9779932	22	125527											
TECRL	253017	broad.mit.edu	37	chr4	65155449	65155449	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgattgggatgagacaAcattacattgatgaaatgat	11	3	0	5			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr4:65155449A>C	uc003hcv.2	-	9	920	c.811T>G	c.(811-813)TTG>GTG	p.L271V		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	271					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GGATGAGACAACATTACATTG	0.274													C	65155449	A	C	65155449	3	2	252	1	0	0	0	0	1	0	0	0	15743	40	2	5	296	5	TECRL	4	65155449	Missense_Mutation	SNP	A	TCGA-HF-7136-01A-11D-2053-08		65155449	125998827	23	125528											
TRIML2	205860	broad.mit.edu	37	chr4	189012609	189012609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtctccatttgggataCagagggaaaacacaggcctg	12	8	1	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr4:189012609C>A	uc003izl.2	-	7	1118	c.1082G>T	c.(1081-1083)TGT>TTT	p.C361F	TRIML2_uc003izj.1_Missense_Mutation_p.C189F|TRIML2_uc003izk.1_Missense_Mutation_p.C169F|TRIML2_uc011cle.1_Missense_Mutation_p.C436F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	361	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		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)		ATTTGGGATACAGAGGGAAAA	0.463													A	189012609	C	A	189012609	3	1	252	1	0	0	0	0	1	0	0	0	16548	478	17	5	85	5	TRIML2	4	189012609	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	123857160	189012609	2141667	24	125529											
ADCY2	108	broad.mit.edu	37	chr5	7727327	7727328	+	Frame_Shift_Del	DEL	TC	TC	-													tattatgtgacttgtgcctgTctcatattcttctgcatctt					rs113337472		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr5:7727326_7727327GTC>G	uc003jdz.1	+	13	1890_1891	c.1823_1824GTC>G	c.(1822-1824)tgtfs	p.C608fs	ADCY2_uc011cmo.1_Frame_Shift_Del_p.C428fs	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	608					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						ACTTGTGCCTGTCTCATATTCT	0.51													-	7727328	TC	-	7727327	7	5	252	1	0	1	0	1	0	0	0	0	294	1673	58	0	1878	0	ADCY2	5	7727327	Frame_Shift_Del	DEL	TC	TCGA-HF-7136-01A-11D-2053-08		7727327	173187933	25	125530											
OXCT1	5019	broad.mit.edu	37	chr5	41739516	41739516	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaatcacacccagtactcttCtgtacgtcatccactgtcag	5	14	5	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr5:41739516C>G	uc003jmn.2	-	16	1828	c.1497G>C	c.(1495-1497)CAG>CAC	p.Q499H	OXCT1_uc011cpo.1_Missense_Mutation_p.Q102H|OXCT1_uc011cpp.1_Missense_Mutation_p.Q102H	NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	499					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	CAGTACTCTTCTGTACGTCAT	0.433													G	41739516	C	G	41739516	3	3	252	1	0	0	0	0	1	0	0	0	11329	912	32	5	73	5	OXCT1	5	41739516	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	34012189	41739516	139175744	26	125531											
MSH3	4437	broad.mit.edu	37	chr5	79968173	79968173	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcctggtggcaaaaggAtataaggtcagctttggctt	13	9	1	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr5:79968173A>T	uc003kgz.2	+	5	1156	c.903A>T	c.(901-903)GGA>GGT	p.G301G		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	301					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			lung(2)|ovary(1)|breast(1)	4		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)		TGGCAAAAGGATATAAGGTCA	0.423								MMR					T	79968173	A	T	79968173	2	4	252	1	0	0	0	0	0	0	0	1	9871	320	12	5		5	MSH3	5	79968173	Silent	SNP	A	TCGA-HF-7136-01A-11D-2053-08	38228657	79968173	100947087	27	125532											
ELOVL2	54898	broad.mit.edu	37	chr6	10990028	10990028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagccacacggtttcaCgacggcgctcatggtgtgcg	16	11	2	0	rs6919726	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:10990028C>T	uc003mzp.3	-	7	834	c.673G>A	c.(673-675)GTG>ATG	p.V225M		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	225	Helical; (Potential).				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				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CACGGTTTCACGACGGCGCTC	0.532													T	10990028	C	T	10990028	3	4	252	1	0	0	0	0	1	0	0	0	5074	536	19	1	225	1	ELOVL2	6	10990028	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		10990028	160125039	28	125533											
ETV7	51513	broad.mit.edu	37	chr6	36343663	36343663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgagctgggcgcacGgtgccggaagtcgtccttgg	16	12	0	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:36343663G>A	uc003omb.2	-	3	441	c.292C>T	c.(292-294)CGT>TGT	p.R98C	ETV7_uc003olz.1_Missense_Mutation_p.R98C|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.P25L|ETV7_uc010jwh.2_Missense_Mutation_p.R17C|ETV7_uc010jwi.2_Missense_Mutation_p.R98C|ETV7_uc011dtl.1_Intron	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	98	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTGGGCGCACGGTGCCGGAAG	0.662													A	36343663	G	A	36343663	3	1	252	1	0	0	0	0	1	0	0	0	5284	1116	39	1	757	1	ETV7	6	36343663	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	25353635	36343663	134771404	29	125534											
FAM46A	55603	broad.mit.edu	37	chr6	82459692	82459692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgagatactcatacttgCggtcttccaatcccacaaag	6	12	3	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:82459692C>T	uc003pjg.2	-	3	1367	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	FAM46A_uc003pjf.2_Missense_Mutation_p.R369H	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	350											0		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)		CTCATACTTGCGGTCTTCCAA	0.438													T	82459692	C	T	82459692	3	4	252	1	0	0	0	0	1	0	0	0	5565	768	27	1	283	1	FAM46A	6	82459692	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	46116029	82459692	88655375	30	125535											
FOXO3	2309	broad.mit.edu	37	chr6	108985299	108985299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtataccaccaagggctcGggcctgggctccccaaccag	11	17	0	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:108985299G>A	uc003psk.2	+	3	1579	c.1263G>A	c.(1261-1263)TCG>TCA	p.S421S	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.S421S|FOXO3_uc011ean.1_Silent_p.S201S|FOXO3_uc010kdj.1_Silent_p.S201S	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	421					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCAAGGGCTCGGGCCTGGGCT	0.597													A	108985299	G	A	108985299	2	1	252	1	0	0	0	0	0	0	0	1	6024	1103	39	1		1	FOXO3	6	108985299	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	26525607	108985299	62129768	31	125536											
TAS2R4	50832	broad.mit.edu	37	chr7	141478766	141478766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaccttttcctgaacttGtgactacgagaaataacaca	5	11	1	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr7:141478766G>A	uc003vwq.1	+	1	478	c.478G>A	c.(478-480)GTG>ATG	p.V160M		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	160	Extracellular (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCCTGAACTTGTGACTACGAG	0.453													A	141478766	G	A	141478766	3	1	252	1	0	0	0	0	1	0	0	0	15574	1377	48	4	480	4	TAS2R4	7	141478766	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08		141478766	17659897	32	125537											
RP1	6101	broad.mit.edu	37	chr8	55533785	55533785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaggaacatcagcacccctCggggcaggcacagcatcacg	12	14	2	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr8:55533785C>T	uc003xsd.1	+	2	407	c.259C>T	c.(259-261)CGG>TGG	p.R87W	RP1_uc011ldy.1_Missense_Mutation_p.R87W	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	87	Doublecortin 1.				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			skin(7)|ovary(4)|pancreas(1)	12		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)			CAGCACCCCTCGGGGCAGGCA	0.592													T	55533785	C	T	55533785	3	4	252	1	0	0	0	0	1	0	0	0	13532	875	31	1	261	1	RP1	8	55533785	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		55533785	90830237	33	125538											
ADCY8	114	broad.mit.edu	37	chr8	131795957	131795957	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatccggagttcaaaattgTtgaatgaatgcttgttgatc	9	6	1	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr8:131795957T>A	uc003ytd.3	-	17	3504	c.3248A>T	c.(3247-3249)AAC>ATC	p.N1083I	ADCY8_uc010mds.2_Missense_Mutation_p.N952I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1083	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCAAAATTGTTGAATGAATG	0.512										HNSCC(32;0.087)			A	131795957	T	A	131795957	3	1	252	1	0	0	0	0	1	0	0	0	300	1725	60	5	515	5	ADCY8	8	131795957	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08	76262172	131795957	14568065	34	125539											
HAUS6	54801	broad.mit.edu	37	chr9	19063161	19063161	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttagaaattgcttcatTtttttctttgggagttccca	6	7	3	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:19063161T>G	uc003znk.2	-	14	1727	c.1474A>C	c.(1474-1476)AAT>CAT	p.N492H	HAUS6_uc011lmz.1_Missense_Mutation_p.N212H|HAUS6_uc003znl.1_Missense_Mutation_p.N356H|HAUS6_uc003znm.1_Missense_Mutation_p.N247H	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	492					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						ATTGCTTCATTTTTTTCTTTG	0.358													G	19063161	T	G	19063161	3	3	252	1	0	0	0	0	1	0	0	0	6970	1841	64	5	1409	5	HAUS6	9	19063161	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08		19063161	122150270	35	125540											
CDKN2A	1029	broad.mit.edu	37	chr9	21971024	21971024	+	Frame_Shift_Del	DEL	G	G	-													agccaggtccacgggcagacGgccccaggcatcgcgcacgt							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:21971024delG	uc003zpk.2	-	2	546	c.334delC	c.(334-336)CGTfs	p.R112fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.P167fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	112	ANK 4.		R -> RR (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 binding|protein kinase binding	p.0?(1112)|p.?(13)|p.R112G(4)|p.H83fs*2(2)|p.R112fs(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		ACGGGCAGACGGCCCCAGGCA	0.736		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			-	21971024	G	-	21971024	7	5	252	1	0	1	0	1	0	0	0	0	3161	1116	39	0	144	0	CDKN2A	9	21971024	Frame_Shift_Del	DEL	G	TCGA-HF-7136-01A-11D-2053-08	2907863	21971024	119242407	36	125541											
CDKN2A	1029	broad.mit.edu	37	chr9	21974715	21974732	+	In_Frame_Del	DEL	GCAGCGCCCCCGCCTCCA	GCAGCGCCCCCGCCTCCA	-													gtaactattcggtgcgttggGcagcgcccccgcctccagca							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:21974714_21974731GGCAGCGCCCCCGCCTCCA>G	uc003zpk.3	-	0	402_419	c.96_113TGGAGGCGGGGGCGCTGCC>C	c.(94-114)ctggaggcgggggcgctgccc>ctCc	p.EAGALP33del	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_In_Frame_Del_p.EAGALP33del|CDKN2A_uc010miu.3_In_Frame_Del_p.EAGALP33del|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	33			E -> D (in a biliary tract tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.G35E(6)|p.A36T(4)|p.L37L(4)|p.A34V(4)|p.V28_E33del(4)|p.E33*(4)|p.R29_A34del(4)|p.G35R(4)|p.E33D(2)|p.L32R(2)|p.A34A(2)|p.E33fs*8(2)|p.L37fs*6(2)|p.A36fs*8(2)|p.P38L(2)|p.G35fs*13(2)|p.V28_V51del(2)|p.P38fs*7(2)|p.G35V(2)|p.R29fs*9(1)|p.0(1)|p.A21_L32del(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)		CGGTGCGTTGGGCAGCGCCCCCGCCTCCAGCAGCGCCC	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			-	21974732	GCAGCGCCCCCGCCTCCA	-	21974715	7	5	252	1	0	1	0	1	0	0	0	0	3161	1203	42	0	571	0	CDKN2A	9	21974715	In_Frame_Del	DEL	GCAGCGCCCCCGCCTCCA	TCGA-HF-7136-01A-11D-2053-08	3691	21974715	119238716	37	125542											
FBXW2	26190	broad.mit.edu	37	chr9	123527050	123527050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgatgtacaggtagcgGttgtcaaacagcagggcaaa	12	8	1	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:123527050G>A	uc004bkl.1	-	8	1313	c.1152C>T	c.(1150-1152)AAC>AAT	p.N384N	FBXW2_uc011lyc.1_Silent_p.N255N|FBXW2_uc004bkn.2_Silent_p.N416N|FBXW2_uc004bkm.1_Silent_p.N384N|FBXW2_uc010mvj.1_Silent_p.N319N	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	384					proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						ACAGGTAGCGGTTGTCAAACA	0.507													A	123527050	G	A	123527050	2	1	252	1	0	0	0	0	0	0	0	1	5766	1252	44	4		4	FBXW2	9	123527050	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	101552335	123527050	17686381	38	125543											
TOR1A	1861	broad.mit.edu	37	chr9	132580876	132580876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttccctctgctttccaCtcctccagaaatccaaagcc	4	17	2	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:132580876C>T	uc004byl.2	-	4	748	c.671G>A	c.(670-672)AGT>AAT	p.S224N	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	224					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				CTGCTTTCCACTCCTCCAGAA	0.493													T	132580876	C	T	132580876	3	4	252	1	0	0	0	0	1	0	0	0	16368	565	20	4	335	4	TOR1A	9	132580876	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	9053826	132580876	8632555	39	125544											
KCNT1	57582	broad.mit.edu	37	chr9	138683695	138683695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtcctcatcaaccctccGcccgacacgaggctggagcc	9	18	2	0	rs144068763		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:138683695G>A	uc011mdq.1	+	30	3629	c.3555G>A	c.(3553-3555)CCG>CCA	p.P1185P	KCNT1_uc011mdr.1_Silent_p.P1033P|KCNT1_uc010nbf.2_Silent_p.P1161P	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1185						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCAACCCTCCGCCCGACACGA	0.642													A	138683695	G	A	138683695	2	1	252	1	0	0	0	0	0	0	0	1	8091	1074	38	1		1	KCNT1	9	138683695	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	6102819	138683695	2529736	40	125545											
ANK3	288	broad.mit.edu	37	chr10	62021617	62021617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacattgctgtgctcttacCcttgcggtgaaatccacagc	8	13	1	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:62021617C>G	uc001jky.2	-	7	990	c.798G>C	c.(796-798)AGG>AGC	p.R266S	ANK3_uc010qih.1_Missense_Mutation_p.R249S|ANK3_uc001jkz.3_Missense_Mutation_p.R260S|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	266					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GTGCTCTTACCCTTGCGGTGA	0.443													G	62021617	C	G	62021617	3	3	252	1	0	0	0	0	1	0	0	0	622	637	22	5	12816	5	ANK3	10	62021617	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		62021617	73513130	41	125546											
HERC4	26091	broad.mit.edu	37	chr10	69750049	69750049	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttgtgaaattgttggaatCactcatcaggggacattctg	11	6	4	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:69750049C>A	uc001jng.3	-	14	1863	c.1552G>T	c.(1552-1554)GAT>TAT	p.D518Y	HERC4_uc009xpq.2_Missense_Mutation_p.D59Y|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.D518Y|HERC4_uc009xpr.2_Missense_Mutation_p.D518Y|HERC4_uc001jni.3_Missense_Mutation_p.D262Y|HERC4_uc001jnj.2_Missense_Mutation_p.D518Y	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	518					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TTGTTGGAATCACTCATCAGG	0.368													A	69750049	C	A	69750049	3	1	252	1	0	0	0	0	1	0	0	0	7060	826	29	5	1673	5	HERC4	10	69750049	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	7728432	69750049	65784698	42	125547											
TM9SF3	56889	broad.mit.edu	37	chr10	98292809	98292810	+	Frame_Shift_Ins	INS	-	-	T													atttagcattctctttaccaINSttttttctccggtataggac							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:98292809_98292810insT	uc001kmm.3	-	10	1540_1541	c.1323_1324insA	c.(1321-1326)AAATGGfs	p.K441fs	TM9SF3_uc010qot.1_Frame_Shift_Ins_p.K441fs	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	441_442						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TCTCTTTACCATTTTTTCTCCG	0.376													T	98292810	-	T	98292809	7	5	252	1	0	1	1	0	0	0	0	0	15976	231	8	0	469	0	TM9SF3	10	98292809	Frame_Shift_Ins	INS	-	TCGA-HF-7136-01A-11D-2053-08	28542760	98292809	37241938	43	125548	654	2									
TM9SF3	56889	broad.mit.edu	37	chr10	98292810	98292811	+	Splice_Site	INS	-	-	T													tttagcattctctttaccatINStttttctccggtataggacg							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:98292809_98292810A>AT	uc001kmm.4	-	10	1542	c.1325_splice	c.e10+1	p.W442_splice		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	442						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)		TCTCTTTACCATTTTTTCTCCG	0.376													T	98292811	-	T	98292810	8	5	252	1	0	1	1	0	0	0	1	0	15976	1490	52	0	470	0	TM9SF3	10	98292810	Splice_Site	INS	-	TCGA-HF-7136-01A-11D-2053-08	1	98292810	37241937	44	125549	654	2									
GBF1	8729	broad.mit.edu	37	chr10	104125283	104125283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggctccgagagaaccctCggctggacaagaagatgatt	13	9	0	4			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:104125283C>T	uc001kux.1	+	18	2473	c.2233C>T	c.(2233-2235)CGG>TGG	p.R745W	GBF1_uc001kuy.1_Missense_Mutation_p.R745W|GBF1_uc001kuz.1_Missense_Mutation_p.R746W	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	745	SEC7.				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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAGAACCCTCGGCTGGACAA	0.488													T	104125283	C	T	104125283	3	4	252	1	0	0	0	0	1	0	0	0	6271	875	31	1	2299	1	GBF1	10	104125283	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	5832473	104125283	31409464	45	125550											
OR52J3	119679	broad.mit.edu	37	chr11	5068218	5068218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcattgtaattcgtcccGttttacttacacttcccatg	6	11	0	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:5068218G>A	uc010qyv.1	+	1	463	c.463G>A	c.(463-465)GTT>ATT	p.V155I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		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)		AATTCGTCCCGTTTTACTTAC	0.463													A	5068218	G	A	5068218	3	1	252	1	0	0	0	0	1	0	0	0	11122	1145	40	1	465	1	OR52J3	11	5068218	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08		5068218	129938298	46	125551											
FAM160A2	84067	broad.mit.edu	37	chr11	6232859	6232859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaactccttgagaaattcAgggaaaatgactgcacagta	9	9	1	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:6232859A>G	uc001mcl.3	-	12	3155	c.2796T>C	c.(2794-2796)CCT>CCC	p.P932P	FAM160A2_uc001mck.3_Silent_p.P946P	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	932					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						TGAGAAATTCAGGGAAAATGA	0.557													G	6232859	A	G	6232859	2	3	252	1	0	0	0	0	0	0	0	1	5469	175	7	3		3	FAM160A2	11	6232859	Silent	SNP	A	TCGA-HF-7136-01A-11D-2053-08	1164641	6232859	128773657	47	125552											
RBMXL2	27288	broad.mit.edu	37	chr11	7111495	7111495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggccgtctaggaggcCgcttggagagaggaggaggc	21	8	1	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:7111495C>T	uc001mfc.2	+	1	1331	c.1144C>T	c.(1144-1146)CGC>TGC	p.R382C		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	382	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTAGGAGGCCGCTTGGAGAG	0.567													T	7111495	C	T	7111495	3	4	252	1	0	0	0	0	1	0	0	0	13154	652	23	1	1146	1	RBMXL2	11	7111495	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	878636	7111495	127895021	48	125553											
SLC17A6	57084	broad.mit.edu	37	chr11	22399153	22399153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaattatataaattatgGtaccaccaagtcttatggtg	6	6	2	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:22399153G>T	uc001mqk.2	+	12	2029	c.1616G>T	c.(1615-1617)GGT>GTT	p.G539V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	539	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						ATAAATTATGGTACCACCAAG	0.408													T	22399153	G	T	22399153	3	4	252	1	0	0	0	0	1	0	0	0	14421	1261	44	5	1662	5	SLC17A6	11	22399153	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	15287658	22399153	112607363	49	125554											
OR5AR1	219493	broad.mit.edu	37	chr11	56431542	56431542	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgttttgtggccatttgTcgacccctccactatagcac	9	13	0	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:56431542T>A	uc010rjm.1	+	1	381	c.381T>A	c.(379-381)TGT>TGA	p.C127*		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGGCCATTTGTCGACCCCTCC	0.517													A	56431542	T	A	56431542	4	1	252	1	0	0	0	0	0	1	0	0	11145	1673	58	5	383	5	OR5AR1	11	56431542	Nonsense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08	34032389	56431542	78574974	50	125555											
CASP1	834	broad.mit.edu	37	chr11	104900494	104900494	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcattgagttgtagtatatCtgggacttgctcagagtgtt	12	5	2	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:104900494C>G	uc010rve.1	-	6	777	c.760G>C	c.(760-762)GAT>CAT	p.D254H	CASP1_uc001pig.2_Missense_Mutation_p.D161H|CASP1_uc001pik.2_Missense_Mutation_p.D217H|CASP1_uc010rvf.1_Missense_Mutation_p.D161H|CASP1_uc010rvg.1_Missense_Mutation_p.D233H|CASP1_uc010rvh.1_Missense_Mutation_p.D161H|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.D254H|CASP1_uc009yxi.2_Missense_Mutation_p.D233H|CASP1_uc010rvj.1_Missense_Mutation_p.D254H|CASP1_uc009yxj.2_Missense_Mutation_p.D99H|CASP1_uc010rvk.1_Missense_Mutation_p.D215H	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	254					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGTAGTATATCTGGGACTTGC	0.483													G	104900494	C	G	104900494	3	3	252	1	0	0	0	0	1	0	0	0	2668	913	32	5	470	5	CASP1	11	104900494	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	48468952	104900494	30106022	51	125556											
SIK2	23235	broad.mit.edu	37	chr11	111571702	111571702	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagaagtctttgaagggCagcagtatgaaggaccacag	12	10	1	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:111571702C>T	uc001plt.2	+	5	689	c.571C>T	c.(571-573)CAG>TAG	p.Q191*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	191	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CTTTGAAGGGCAGCAGTATGA	0.458													T	111571702	C	T	111571702	4	4	252	1	0	0	0	0	0	1	0	0	14318	711	25	2	589	2	SIK2	11	111571702	Nonsense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	6671208	111571702	23434814	52	125557											
RNF26	79102	broad.mit.edu	37	chr11	119206667	119206667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatgtcatgcggctctctCgcctagcactgggctcagag	13	12	3	1	rs150176910		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:119206667C>T	uc001pwh.2	+	1	1431	c.835C>T	c.(835-837)CGC>TGC	p.R279C		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	279							zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCGGCTCTCTCGCCTAGCACT	0.672													T	119206667	C	T	119206667	3	4	252	1	0	0	0	0	1	0	0	0	13486	884	31	1	837	1	RNF26	11	119206667	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	7634965	119206667	15799849	53	125558											
SORL1	6653	broad.mit.edu	37	chr11	121425952	121425952	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcatcaattctggcctggaGacagtagaagctttggcttt	10	8	3	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:121425952G>A	uc001pxx.2	+	18	2576	c.2496G>A	c.(2494-2496)GAG>GAA	p.E832E		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	832	Extracellular (Potential).|LDL-receptor class B 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		CTGGCCTGGAGACAGTAGAAG	0.433													A	121425952	G	A	121425952	2	1	252	1	0	0	0	0	0	0	0	1	14934	933	33	4		4	SORL1	11	121425952	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	2219285	121425952	13580564	54	125559											
C12orf4	57102	broad.mit.edu	37	chr12	4600345	4600345	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagaagattatgctcacctTtgacacacttgaacacaagt	7	9	1	4			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:4600345T>A	uc001qms.2	-	12	1584	c.1496A>T	c.(1495-1497)AAA>ATA	p.K499I	C12orf4_uc001qmt.2_Missense_Mutation_p.K499I	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	499											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGCTCACCTTTGACACACTT	0.393													A	4600345	T	A	4600345	3	1	252	1	0	0	0	0	1	0	0	0	1685	1841	64	5	174	5	C12orf4	12	4600345	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08		4600345	129251550	55	125560											
OR10AD1	121275	broad.mit.edu	37	chr12	48596917	48596917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggggctgttgagcttgggGtctgtccaggaggtgataaa	17	5	1	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:48596917G>T	uc001rrl.1	-	1	159	c.159C>A	c.(157-159)GAC>GAA	p.D53E		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGAGCTTGGGGTCTGTCCAGG	0.537													T	48596917	G	T	48596917	3	4	252	1	0	0	0	0	1	0	0	0	10896	1252	44	5	798	5	OR10AD1	12	48596917	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	43996572	48596917	85254978	56	125561											
OR10A7	121364	broad.mit.edu	37	chr12	55615590	55615590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagtctgacctacctgcGgcccaaatcaaaccagtccc	7	17	2	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:55615590G>A	uc010spf.1	+	1	782	c.782G>A	c.(781-783)CGG>CAG	p.R261Q		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						ACCTACCTGCGGCCCAAATCA	0.522													A	55615590	G	A	55615590	3	1	252	1	0	0	0	0	1	0	0	0	10895	1116	39	1	784	1	OR10A7	12	55615590	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	7018673	55615590	78236305	57	125562											
ATXN2	6311	broad.mit.edu	37	chr12	111926287	111926287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtttactcactcagctgCgtctttcttctcttccttat	5	13	5	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:111926287C>A	uc001tsj.2	-	15	2875	c.2713G>T	c.(2713-2715)GCA>TCA	p.A905S	ATXN2_uc001tsh.2_Missense_Mutation_p.A640S|ATXN2_uc001tsi.2_Missense_Mutation_p.A616S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.A91S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	905					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			ovary(1)|breast(1)	2						CACTCAGCTGCGTCTTTCTTC	0.443													A	111926287	C	A	111926287	3	1	252	1	0	0	0	0	1	0	0	0	1211	768	27	5	1272	5	ATXN2	12	111926287	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	56310697	111926287	21925608	58	125563											
BRAP	8315	broad.mit.edu	37	chr12	112119584	112119584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgatctttacttctttgCgcagtgggggaggcttctga	13	8	3	2	rs142262681	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:112119584C>T	uc001tsn.3	-	3	494	c.300G>A	c.(298-300)GCG>GCA	p.A100A	BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Silent_p.A70A	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	100					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			lung(1)	1						TACTTCTTTGCGCAGTGGGGG	0.408													T	112119584	C	T	112119584	2	4	252	1	0	0	0	0	0	0	0	1	1497	755	27	1		1	BRAP	12	112119584	Silent	SNP	C	TCGA-HF-7136-01A-11D-2053-08	193297	112119584	21732311	59	125564											
ACADS	35	broad.mit.edu	37	chr12	121176172	121176172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatccggggctcatccacGgccaacctcatctttgagga	11	14	3	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:121176172G>A	uc001tza.3	+	6	832	c.714G>A	c.(712-714)ACG>ACA	p.T238T	ACADS_uc010szl.1_Silent_p.T234T|ACADS_uc001tzb.3_Silent_p.T165T	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	238						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GCTCATCCACGGCCAACCTCA	0.612													A	121176172	G	A	121176172	2	1	252	1	0	0	0	0	0	0	0	1	114	1103	39	1		1	ACADS	12	121176172	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	9056588	121176172	12675723	60	125565											
DNAH10	196385	broad.mit.edu	37	chr12	124325995	124325995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcgggctgaagggcgcGtggaggactggatgacggca	19	8	1	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:124325995G>A	uc001uft.3	+	29	4934	c.4909G>A	c.(4909-4911)GTG>ATG	p.V1637M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1637	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		TGAAGGGCGCGTGGAGGACTG	0.453													A	124325995	G	A	124325995	3	1	252	1	0	0	0	0	1	0	0	0	4598	1145	40	1	5023	1	DNAH10	12	124325995	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	3149823	124325995	9525900	61	125566											
POLE	5426	broad.mit.edu	37	chr12	133256628	133256628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaaacttctcgctcaCaaccctaatcaggatcagaa	6	11	4	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:133256628C>A	uc001uks.1	-	5	379	c.335G>T	c.(334-336)TGT>TTT	p.C112F	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.C85F	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	112					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		TTCTCGCTCACAACCCTAATC	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133256628	C	A	133256628	3	1	252	1	0	0	0	0	1	0	0	0	12196	478	17	5	6705	5	POLE	12	133256628	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	8930633	133256628	595267	62	125567											
CHFR	55743	broad.mit.edu	37	chr12	133435752	133435752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgacgtcctcgtggacGgtttgggcatttctacgcgg	14	11	2	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:133435752G>A	uc001ulf.2	-	8	933	c.849C>T	c.(847-849)ACC>ACT	p.T283T	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.T271T|CHFR_uc010tbs.1_Silent_p.T283T|CHFR_uc001uld.2_Silent_p.T242T|CHFR_uc010tbt.1_Silent_p.T191T	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	283					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			skin(1)	1	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)		CCTCGTGGACGGTTTGGGCAT	0.567													A	133435752	G	A	133435752	2	1	252	1	0	0	0	0	0	0	0	1	3337	1103	39	1		1	CHFR	12	133435752	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	179124	133435752	416143	63	125568											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679324	37679324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccaaaggagccagaccCgatcttccgcaccagtttgt	9	14	2	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr13:37679324C>T	uc001uwm.1	-	1	478	c.70G>A	c.(70-72)GGG>AGG	p.G24R		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	24	ATP (By similarity).|Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		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)		GAGCCAGACCCGATCTTCCGC	0.552													T	37679324	C	T	37679324	3	4	252	1	0	0	0	0	1	0	0	0	3951	652	23	1	947	1	CSNK1A1L	13	37679324	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		37679324	77490554	64	125569											
WBP4	11193	broad.mit.edu	37	chr13	41639174	41639177	+	Frame_Shift_Del	DEL	GAAA	GAAA	-													tgttgaatttcatgaaagagGaaagaatcataaggaaaatg							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr13:41639174_41639177delGAAA	uc001uxt.2	+	3	211_214	c.98_101delGAAA	c.(97-102)GGAAAGfs	p.G33fs	WBP4_uc010tfd.1_Intron	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	33_34	Matrin-type.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CATGAAAGAGGAAAGAATCATAAG	0.27													-	41639177	GAAA	-	41639174	7	5	252	1	0	1	0	1	0	0	0	0	17258	1174	41	0	108	0	WBP4	13	41639174	Frame_Shift_Del	DEL	GAAA	TCGA-HF-7136-01A-11D-2053-08	3959850	41639174	73530704	65	125570											
TEP1	7011	broad.mit.edu	37	chr14	20863741	20863741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacggttcttttcatttctaGttagtatccgcctcatcagt	7	10	5	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:20863741G>T	uc001vxe.2	-	12	1836	c.1796C>A	c.(1795-1797)ACT>AAT	p.T599N	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.T491N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	599	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		TTCATTTCTAGTTAGTATCCG	0.463													T	20863741	G	T	20863741	3	4	252	1	0	0	0	0	1	0	0	0	15756	1029	36	5	6263	5	TEP1	14	20863741	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08		20863741	86485799	66	125571											
SIP1	8487	broad.mit.edu	37	chr14	39597518	39597518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttggaatatctgagtaAttggtttggagaaagagact	12	3	2	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:39597518A>C	uc001wuq.2	+	7	621	c.599A>C	c.(598-600)AAT>ACT	p.N200T	SIP1_uc001wur.2_Missense_Mutation_p.N200T|SIP1_uc001wus.2_Missense_Mutation_p.N185T|SIP1_uc010amx.2_RNA	NM_003616	NP_003607	O14893	GEMI2_HUMAN	SMN-interacting protein 1 isoform alpha	200					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)		TATCTGAGTAATTGGTTTGGA	0.279													C	39597518	A	C	39597518	3	2	252	1	0	0	0	0	1	0	0	0	14327	101	4	5	625	5	SIP1	14	39597518	Missense_Mutation	SNP	A	TCGA-HF-7136-01A-11D-2053-08	18733777	39597518	67752022	67	125572											
LRFN5	145581	broad.mit.edu	37	chr14	42360632	42360632	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcgttgccatttcatgcagtCtcagtttttgggaggcacca	11	10	2	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:42360632C>G	uc001wvm.2	+	4	2763	c.1565C>G	c.(1564-1566)TCT>TGT	p.S522C	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	522	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCATGCAGTCTCAGTTTTTG	0.423										HNSCC(30;0.082)			G	42360632	C	G	42360632	3	3	252	1	0	0	0	0	1	0	0	0	8941	913	32	5	1571	5	LRFN5	14	42360632	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	2763114	42360632	64988908	68	125573											
SERPINA10	51156	broad.mit.edu	37	chr14	94750385	94750385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatgaaatgaaatggccGgtccactttgatgacaggag	12	7	1	4			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:94750385G>A	uc001yct.2	-	5	1718	c.1252C>T	c.(1252-1254)CGG>TGG	p.R418W	SERPINA10_uc001ycu.3_Missense_Mutation_p.R418W	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	418					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAAATGGCCGGTCCACTTTG	0.453													A	94750385	G	A	94750385	3	1	252	1	0	0	0	0	1	0	0	0	14087	1115	39	1	86	1	SERPINA10	14	94750385	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	52389753	94750385	12599155	69	125574											
EEF2K	29904	broad.mit.edu	37	chr16	22278169	22278169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgtactcgcagttgcctcAtcacatcctagccgatgtct	7	14	3	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr16:22278169A>T	uc002dki.2	+	15	2221	c.1736A>T	c.(1735-1737)CAT>CTT	p.H579L	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	579					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			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGTTGCCTCATCACATCCTA	0.637													T	22278169	A	T	22278169	3	4	252	1	0	0	0	0	1	0	0	0	4930	217	8	5	1790	5	EEF2K	16	22278169	Missense_Mutation	SNP	A	TCGA-HF-7136-01A-11D-2053-08		22278169	68076584	70	125575											
ADAMTS18	170692	broad.mit.edu	37	chr16	77325275	77325275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttggtttcttaatattaCggcatcttcgctctgggaaa	9	7	3	0	rs150975249	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr16:77325275C>T	uc002ffc.3	-	21	3709	c.3290G>A	c.(3289-3291)CGT>CAT	p.R1097H		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1097	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTTAATATTACGGCATCTTCG	0.502													T	77325275	C	T	77325275	3	4	252	1	0	0	0	0	1	0	0	0	263	536	19	1	387	1	ADAMTS18	16	77325275	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	55047106	77325275	13029478	71	125576											
SLC16A13	201232	broad.mit.edu	37	chr17	6941923	6941923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttctgacctcgtggggCgtgtggtctccggatggctg	15	10	2	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr17:6941923C>T	uc002geh.2	+	3	1104	c.796C>T	c.(796-798)CGT>TGT	p.R266C		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	266	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						CCTCGTGGGGCGTGTGGTCTC	0.602													T	6941923	C	T	6941923	3	4	252	1	0	0	0	0	1	0	0	0	14406	768	27	1	806	1	SLC16A13	17	6941923	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		6941923	74253287	72	125577											
DSC1	1823	broad.mit.edu	37	chr18	28710576	28710576	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccgatcgctgcagcaaccTactgagccggccagagaacc	11	15	0	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr18:28710576T>A	uc002kwn.2	-	16	2848	c.2586A>T	c.(2584-2586)GTA>GTT	p.V862V	DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	862	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGCAGCAACCTACTGAGCCGG	0.438													A	28710576	T	A	28710576	2	1	252	1	0	0	0	0	0	0	0	1	4765	1509	53	5		5	DSC1	18	28710576	Silent	SNP	T	TCGA-HF-7136-01A-11D-2053-08		28710576	49366672	73	125578											
EMR2	30817	broad.mit.edu	37	chr19	14887536	14887536	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggggccccaaagtacttAccgagaaagacgagaaagac	12	10	0	4			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:14887536A>G	uc002mzp.1	-	2	487	c.31_splice	c.e2+1	p.A11_splice	EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Splice_Site_p.A11_splice|EMR2_uc002mzq.1_Splice_Site_p.A11_splice|EMR2_uc002mzr.1_Splice_Site_p.A11_splice|EMR2_uc002mzs.1_Splice_Site_p.A11_splice|EMR2_uc002mzt.1_Splice_Site_p.A11_splice|EMR2_uc002mzu.1_Splice_Site_p.A11_splice|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone						cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						CAAAGTACTTACCGAGAAAGA	0.652													G	14887536	A	G	14887536	5	3	252	1	0	0	0	0	0	0	1	0	5105	405	14	3	2518	3	EMR2	19	14887536	Splice_Site	SNP	A	TCGA-HF-7136-01A-11D-2053-08		14887536	44241447	74	125579											
MAST3	23031	broad.mit.edu	37	chr19	18255381	18255381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggccgccgccttggggGcccaagagacccagcccctg	15	18	0	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:18255381G>A	uc002nhz.3	+	22	2603	c.2603G>A	c.(2602-2604)GGC>GAC	p.G868D		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	868							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						CGCCTTGGGGGCCCAAGAGAC	0.701													A	18255381	G	A	18255381	3	1	252	1	0	0	0	0	1	0	0	0	9326	1203	42	2	2689	2	MAST3	19	18255381	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	3367845	18255381	40873602	75	125580											
ZNF568	374900	broad.mit.edu	37	chr19	37441189	37441189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgaatgtcatctgttacGctacatatgagaagtcacac	7	10	4	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:37441189G>A	uc002ofc.2	+	7	1649	c.1134G>A	c.(1132-1134)ACG>ACA	p.T378T	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.T302T|ZNF568_uc010efe.2_Silent_p.T302T|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	378	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCTGTTACGCTACATATGA	0.358													A	37441189	G	A	37441189	2	1	252	1	0	0	0	0	0	0	0	1	17996	1074	38	1		1	ZNF568	19	37441189	Silent	SNP	G	TCGA-HF-7136-01A-11D-2053-08	19185808	37441189	21687794	76	125581											
QPCTL	54814	broad.mit.edu	37	chr19	46195970	46195970	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcggccatgcgttcCgggggccgcgggcgaccccg	18	15	0	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:46195970C>G	uc010xxr.1	+	1	230	c.9C>G	c.(7-9)TCC>TCG	p.S3S	SNRPD2_uc002pcv.2_5'Flank|SNRPD2_uc002pcw.2_5'Flank|QPCTL_uc010ekn.2_Silent_p.S3S	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	3					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			skin(1)	1		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)		CCATGCGTTCCGGGGGCCGCG	0.662													G	46195970	C	G	46195970	2	3	252	1	0	0	0	0	0	0	0	1	12875	639	23	5		5	QPCTL	19	46195970	Silent	SNP	C	TCGA-HF-7136-01A-11D-2053-08	8754781	46195970	12933013	77	125582											
RASSF2	9770	broad.mit.edu	37	chr20	4771185	4771185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacattgccacggcgaCgcaccccaacatcactgcgt	7	18	2	0	rs145104204	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:4771185C>T	uc002wld.2	-	6	503	c.449G>A	c.(448-450)CGT>CAT	p.R150H	RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R150H	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	150					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						GCCACGGCGACGCACCCCAAC	0.587													T	4771185	C	T	4771185	3	4	252	1	0	0	0	0	1	0	0	0	13086	536	19	1	555	1	RASSF2	20	4771185	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		4771185	58254335	78	125583											
FOXS1	2307	broad.mit.edu	37	chr20	30432356	30432356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggtgaggctgcctttaCtcaaagaagaacattcctgg	11	10	1	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:30432356C>A	uc002wwt.1	-	1	1065	c.990G>T	c.(988-990)GAG>GAT	p.E330D		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	330					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|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 activator activity|transcription factor binding			ovary(1)	1						GCTGCCTTTACTCAAAGAAGA	0.627													A	30432356	C	A	30432356	3	1	252	1	0	0	0	0	1	0	0	0	6035	564	20	5	6	5	FOXS1	20	30432356	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	25661171	30432356	32593164	79	125584											
C20orf112	140688	broad.mit.edu	37	chr20	31043938	31043939	+	Frame_Shift_Del	DEL	CC	CC	-													cacctcgggggtggtcttcaCcccgtatttgacgcggctcc							TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:31043937_31043938ACC>A	uc002wxu.4	-	2	527_528	c.370_371GGT>T	c.(370-372)gtgfs	p.V124fs		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	124										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GGTGGTCTTCACCCCGTATTTG	0.629													-	31043939	CC	-	31043938	7	5	252	1	0	1	0	1	0	0	0	0	2081	507	18	0	964	0	C20orf112	20	31043938	Frame_Shift_Del	DEL	CC	TCGA-HF-7136-01A-11D-2053-08	611582	31043938	31981582	80	125585											
ZHX3	23051	broad.mit.edu	37	chr20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgttggcggcatggggGttttttgcagagctggcaga	18	8	0	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:39832810G>T	uc002xjs.1	-	3	1125	c.747C>A	c.(745-747)AAC>AAA	p.N249K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587													T	39832810	G	T	39832810	3	4	252	1	0	0	0	0	1	0	0	0	17674	1252	44	5	2131	5	ZHX3	20	39832810	Missense_Mutation	SNP	G	TCGA-HF-7136-01A-11D-2053-08	8788872	39832810	23192710	81	125586											
TOX2	84969	broad.mit.edu	37	chr20	42695466	42695466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggactgggacagcagctacCccagtggggagtgtggcatc	17	10	0	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:42695466C>A	uc002xlf.3	+	7	1416	c.1399C>A	c.(1399-1401)CCC>ACC	p.P467T	TOX2_uc010ggo.2_Missense_Mutation_p.P485T|TOX2_uc002xle.3_Missense_Mutation_p.P443T|TOX2_uc010ggp.2_Missense_Mutation_p.P443T|TOX2_uc002xlg.2_Missense_Mutation_p.P284T|TOX2_uc010zwk.1_Missense_Mutation_p.P363T	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCAGCTACCCCAGTGGGGA	0.642													A	42695466	C	A	42695466	3	1	252	1	0	0	0	0	1	0	0	0	16375	623	22	5	1613	5	TOX2	20	42695466	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	2862656	42695466	20330054	82	125587											
ZNF831	128611	broad.mit.edu	37	chr20	57769755	57769755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaatggccctcctgggagCaatggaggatggacctggac	14	12	0	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:57769755C>A	uc002yan.2	+	1	3681	c.3681C>A	c.(3679-3681)AGC>AGA	p.S1227R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1227						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTCCTGGGAGCAATGGAGGAT	0.627													A	57769755	C	A	57769755	3	1	252	1	0	0	0	0	1	0	0	0	18182	709	25	5	3683	5	ZNF831	20	57769755	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	15074289	57769755	5255765	83	125588											
LAMA5	3911	broad.mit.edu	37	chr20	60903046	60903046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggtatcacagcggcgcCcagtcacgttgggtctgcac	13	13	3	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:60903046C>A	uc002ycq.2	-	36	4740	c.4673G>T	c.(4672-4674)GGG>GTG	p.G1558V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1558	Laminin EGF-like 14.				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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCGGCGCCCAGTCACGTT	0.692													A	60903046	C	A	60903046	3	1	252	1	0	0	0	0	1	0	0	0	8609	623	22	5	6594	5	LAMA5	20	60903046	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	3133291	60903046	2122474	84	125589											
UCKL1	54963	broad.mit.edu	37	chr20	62571773	62571773	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggccgccgcgcccgtggaCacggtgcagtccatgaggat	15	13	0	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:62571773C>A	uc010gkn.2	-	13	1411	c.1368G>T	c.(1366-1368)GTG>GTT	p.V456V	UCKL1_uc002yhj.2_Silent_p.V99V|UCKL1_uc011abm.1_Silent_p.V441V|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	456					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCCCGTGGACACGGTGCAGT	0.662													A	62571773	C	A	62571773	2	1	252	1	0	0	0	0	0	0	0	1	16922	465	17	5		5	UCKL1	20	62571773	Silent	SNP	C	TCGA-HF-7136-01A-11D-2053-08	1668727	62571773	453747	85	125590											
TCEA2	6919	broad.mit.edu	37	chr20	62700799	62700799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcacctgtgatgccgtgCgcaacaagtgccgcgagatg	13	12	1	2			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:62700799C>T	uc011abs.1	+	5	1071	c.415C>T	c.(415-417)CGC>TGC	p.R139C	TCEA2_uc011abr.1_Missense_Mutation_p.R112C|TCEA2_uc010gkq.2_Missense_Mutation_p.R112C|TCEA2_uc010gks.2_Missense_Mutation_p.R139C|TCEA2_uc010gkt.2_Missense_Mutation_p.R112C|TCEA2_uc010gku.1_Silent_p.C82C	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	139	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				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGATGCCGTGCGCAACAAGTG	0.682													T	62700799	C	T	62700799	3	4	252	1	0	0	0	0	1	0	0	0	15665	768	27	1	433	1	TCEA2	20	62700799	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	129026	62700799	324721	86	125591											
DSCR6	53820	broad.mit.edu	37	chr21	38390196	38390196	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctatttacccatgtcaaagCgtcaagaatacctgcggagt	8	10	3	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr21:38390196C>G	uc002yvv.2	+	4	472	c.262C>G	c.(262-264)CGT>GGT	p.R88G	DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Down syndrome critical region protein 6	88	Ripply homology domain.					nucleus				breast(1)	1		Myeloproliferative disorder(46;0.0632)				CATGTCAAAGCGTCAAGAATA	0.443													G	38390196	C	G	38390196	3	3	252	1	0	0	0	0	1	0	0	0	4773	768	27	5	276	5	DSCR6	21	38390196	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08		38390196	9739699	87	125592											
BRWD1	54014	broad.mit.edu	37	chr21	40578076	40578076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacctttacaattttgcCgttgcttgaacctctggctt	7	11	2	1	rs147847700	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr21:40578076C>T	uc002yxk.1	-	37	4461	c.4322G>A	c.(4321-4323)CGG>CAG	p.R1441Q	BRWD1_uc010goc.1_Missense_Mutation_p.R84Q|BRWD1_uc002yxl.2_Missense_Mutation_p.R1441Q|BRWD1_uc010god.1_Missense_Mutation_p.R359Q	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.294													T	40578076	C	T	40578076	3	4	252	1	0	0	0	0	1	0	0	0	1525	652	23	1	2903	1	BRWD1	21	40578076	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	2187880	40578076	7551819	88	125593											
CLTCL1	8218	broad.mit.edu	37	chr22	19241744	19241744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattaaagatctgaagtgtcTtcccagctagtatttgatat	7	6	2	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr22:19241744T>C	uc002zpb.2	-	3	332	c.257A>G	c.(256-258)AAG>AGG	p.K86R	CLTCL1_uc011agv.1_Missense_Mutation_p.K86R|CLTCL1_uc011agw.1_Missense_Mutation_p.K86R	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	86	Globular terminal domain.				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			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CTGAAGTGTCTTCCCAGCTAG	0.299			T	?	ALCL								C	19241744	T	C	19241744	3	2	252	1	0	0	0	0	1	0	0	0	3567	1609	56	3	4785	3	CLTCL1	22	19241744	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08		19241744	32062822	89	125594											
TIMP3	7078	broad.mit.edu	37	chr22	33254081	33254081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagctcaccctctcccagCgcaaggggctgaactatcgg	10	16	2	1			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr22:33254081C>T	uc003anb.2	+	4	1580	c.394C>T	c.(394-396)CGC>TGC	p.R132C	SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	132	NTR.|Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1						CCTCTCCCAGCGCAAGGGGCT	0.562													T	33254081	C	T	33254081	3	4	252	1	0	0	0	0	1	0	0	0	15916	768	27	1	408	1	TIMP3	22	33254081	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	14012337	33254081	18050485	90	125595											
SBF1	6305	broad.mit.edu	37	chr22	50905993	50905993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggtcgagtcgcgacaCcagtaccagcgtcttcggtg	14	12	1	0			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr22:50905993C>A	uc003blh.2	-	4	601	c.406G>T	c.(406-408)GTG>TTG	p.V136L	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.V137L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	136	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		AGTCGCGACACCAGTACCAGC	0.672													A	50905993	C	A	50905993	3	1	252	1	0	0	0	0	1	0	0	0	13858	507	18	5	5427	5	SBF1	22	50905993	Missense_Mutation	SNP	C	TCGA-HF-7136-01A-11D-2053-08	17651912	50905993	398573	91	125596											
CYLC1	1538	broad.mit.edu	37	chrX	83128442	83128442	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatttgctcagaaaatagTttaaatgttgatttcctcat	7	5	2	3			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chrX:83128442T>G	uc004eei.1	+	4	747	c.726T>G	c.(724-726)AGT>AGG	p.S242R	CYLC1_uc004eeh.1_Missense_Mutation_p.S241R	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	242					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CAGAAAATAGTTTAAATGTTG	0.323													G	83128442	T	G	83128442	3	3	252	1	0	0	0	0	1	0	0	0	4141	1722	60	5	740	5	CYLC1	23	83128442	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08		83128442	72142118	92	125597											
MAGEC1	9947	broad.mit.edu	37	chrX	140994530	140994530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctctccagattcctgTgagctcctctttctcctaca	5	16	4	2	rs57605162		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chrX:140994530T>G	uc004fbt.2	+	4	1626	c.1340T>G	c.(1339-1341)GTG>GGG	p.V447G	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	447							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATTCCTGTGAGCTCCTCT	0.453										HNSCC(15;0.026)			G	140994530	T	G	140994530	3	3	252	1	0	0	0	0	1	0	0	0	9180	1696	59	5	1346	5	MAGEC1	23	140994530	Missense_Mutation	SNP	T	TCGA-HF-7136-01A-11D-2053-08	57866088	140994530	14276030	93	125598											
MIB2	142678	broad.mit.edu	37	chr1	1562274	1562274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacgggaacctgcgtgtaGcagtcgctggtcagcggtgg	18	9	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:1562274G>A	uc001agg.2	+	10	1436	c.1309G>A	c.(1309-1311)GCA>ACA	p.A437T	MIB2_uc001agh.2_Missense_Mutation_p.A423T|MIB2_uc001agi.2_Missense_Mutation_p.A433T|MIB2_uc001agj.2_Missense_Mutation_p.A278T|MIB2_uc001agk.2_Missense_Mutation_p.A372T|MIB2_uc001agl.1_Missense_Mutation_p.A393T|MIB2_uc001agm.2_Missense_Mutation_p.A314T|MIB2_uc010nyq.1_Missense_Mutation_p.A393T|MIB2_uc009vkh.2_Missense_Mutation_p.A243T|MIB2_uc001agn.2_Missense_Mutation_p.A69T|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	437					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				0	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)		CCTGCGTGTAGCAGTCGCTGG	0.697													A	1562274	G	A	1562274	3	1	253	1	0	0	0	0	1	0	0	0	9567	971	34	2	1518	2	MIB2	1	1562274	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		1562274	247688347	1	125599											
TMEM52	339456	broad.mit.edu	37	chr1	1849409	1849409	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctaggcccgaggccccaAggagagggctgggtttctgg	16	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:1849409A>C	uc001aij.2	-	5	578	c.542T>G	c.(541-543)CTT>CGT	p.L181R	TMEM52_uc001aii.2_Missense_Mutation_p.L166R	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	transmembrane protein 52 precursor	181						integral to membrane					0	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGAGGCCCCAAGGAGAGGGCT	0.617													C	1849409	A	C	1849409	3	2	253	1	0	0	0	0	1	0	0	0	16175	72	3	5	91	5	TMEM52	1	1849409	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	287135	1849409	247401212	2	125600											
GABRD	2563	broad.mit.edu	37	chr1	1956774	1956775	+	Splice_Site	INS	-	-	C													tctgctctttccttgcaggcINSccccccgtgaatgtggccct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:1956773_1956774G>GC	uc001aip.2	+	3	277	c.182_splice	c.e3-1	p.G61_splice		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	61						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.V64fs*365(1)		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)		TTCCTTGCAGGCCCCCCCGTGA	0.644													C	1956775	-	C	1956774	8	5	253	1	0	1	1	0	0	0	1	0	6169	753	26	0	193	0	GABRD	1	1956774	Splice_Site	INS	-	TCGA-HJ-7597-01A-21D-2201-08	107365	1956774	247293847	3	125601											
ARHGEF16	27237	broad.mit.edu	37	chr1	3396446	3396446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcacactgcagcaggcGgacgtggtcctggttctgca	15	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:3396446G>A	uc001akg.3	+	14	2207	c.1959G>A	c.(1957-1959)GCG>GCA	p.A653A	ARHGEF16_uc001aki.2_Silent_p.A365A|ARHGEF16_uc001akj.2_Silent_p.A365A|ARHGEF16_uc010nzh.1_Silent_p.A357A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	653	SH3.				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			ovary(1)	1	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)		TGCAGCAGGCGGACGTGGTCC	0.642													A	3396446	G	A	3396446	2	1	253	1	0	0	0	0	0	0	0	1	899	1103	39	1		1	ARHGEF16	1	3396446	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1439672	3396446	245854175	4	125602											
TP73	7161	broad.mit.edu	37	chr1	3644760	3644760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcggcggcatggagaCgaggacacgtactaccttca	13	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:3644760C>T	uc001akp.2	+	9	1163	c.1053C>T	c.(1051-1053)GAC>GAT	p.D351D	TP73_uc001akq.2_Silent_p.D351D|TP73_uc010nzj.1_Silent_p.D302D|TP73_uc001akr.2_Silent_p.D302D|TP73_uc009vlk.1_Silent_p.D302D|TP73_uc001aks.2_Silent_p.D302D|TP73_uc010nzk.1_Silent_p.D280D|TP73_uc010nzl.1_Translation_Start_Site	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	351	Oligomerization (Potential).|Interaction with HIPK2.				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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGCATGGAGACGAGGACACGT	0.677													T	3644760	C	T	3644760	2	4	253	1	0	0	0	0	0	0	0	1	16390	535	19	1		1	TP73	1	3644760	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	248314	3644760	245605861	5	125603											
CHD5	26038	broad.mit.edu	37	chr1	6206379	6206379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgttcttcctcttctcGctcttgccgtcttcatcccc	4	18	6	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:6206379G>A	uc001amb.1	-	11	1795	c.1695C>T	c.(1693-1695)AGC>AGT	p.S565S	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	565					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		TCCTCTTCTCGCTCTTGCCGT	0.532													A	6206379	G	A	6206379	2	1	253	1	0	0	0	0	0	0	0	1	3328	1078	38	1		1	CHD5	1	6206379	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2561619	6206379	243044242	6	125604											
SLC45A1	50651	broad.mit.edu	37	chr1	8404001	8404001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcctgtactcctccctGtttgtcatttatgaaattcc	7	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:8404001G>A	uc001apb.2	+	8	2175	c.2175G>A	c.(2173-2175)CTG>CTA	p.L725L	SLC45A1_uc001apc.2_Silent_p.L423L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	725	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	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)		ACTCCTCCCTGTTTGTCATTT	0.637													A	8404001	G	A	8404001	2	1	253	1	0	0	0	0	0	0	0	1	14640	1364	48	4		4	SLC45A1	1	8404001	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2197622	8404001	240846620	7	125605											
DFFA	1676	broad.mit.edu	37	chr1	10521575	10521575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgtctggctcgcttaGgattctgcaggtcaccaggt	12	11	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:10521575G>T	uc001arj.2	-	6	1066	c.968C>A	c.(967-969)CCT>CAT	p.P323H	DFFA_uc001ark.2_3'UTR	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	323					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	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;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGCTCGCTTAGGATTCTGCAG	0.582													T	10521575	G	T	10521575	3	4	253	1	0	0	0	0	1	0	0	0	4452	1000	35	5	31	5	DFFA	1	10521575	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2117574	10521575	238729046	8	125606											
MASP2	10747	broad.mit.edu	37	chr1	11087239	11087239	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtcaacaatcggtatgtcGacatacattagatttctagc	8	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:11087239G>A	uc001aru.2	-	11	1785	c.1764C>T	c.(1762-1764)GTC>GTT	p.V588V		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	588	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	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)		TCGGTATGTCGACATACATTA	0.423													A	11087239	G	A	11087239	2	1	253	1	0	0	0	0	0	0	0	1	9323	1045	37	1		1	MASP2	1	11087239	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	565664	11087239	238163382	9	125607											
MTOR	2475	broad.mit.edu	37	chr1	11217234	11217234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaggcctcgaggcagcGcatgcggcccagcatcagct	12	17	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:11217234G>A	uc001asd.2	-	30	4565	c.4444C>T	c.(4444-4446)CGC>TGC	p.R1482C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1482	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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TCGAGGCAGCGCATGCGGCCC	0.532													A	11217234	G	A	11217234	3	1	253	1	0	0	0	0	1	0	0	0	9954	1087	38	1	3321	1	MTOR	1	11217234	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	129995	11217234	238033387	10	125608											
PTCHD2	57540	broad.mit.edu	37	chr1	11561902	11561902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctggcgcgcggcgacGcggagcgcaacattttcacc	12	15	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:11561902G>A	uc001ash.3	+	2	991	c.853G>A	c.(853-855)GCG>ACG	p.A285T	PTCHD2_uc001asi.1_Missense_Mutation_p.A285T	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	285	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		GCGCGGCGACGCGGAGCGCAA	0.637													A	11561902	G	A	11561902	3	1	253	1	0	0	0	0	1	0	0	0	12733	1087	38	1	855	1	PTCHD2	1	11561902	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	344668	11561902	237688719	11	125609											
VPS13D	55187	broad.mit.edu	37	chr1	12336527	12336527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggcggaatttaaagTgaactgtatgcagcttggtg	12	8	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:12336527T>C	uc001atv.2	+	19	3023	c.2882T>C	c.(2881-2883)GTG>GCG	p.V961A	VPS13D_uc001atw.2_Missense_Mutation_p.V961A|VPS13D_uc001atx.2_Missense_Mutation_p.V149A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	961					protein localization					ovary(4)|pancreas(1)	5	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)		GAATTTAAAGTGAACTGTATG	0.488											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	12336527	T	C	12336527	3	2	253	1	0	0	0	0	1	0	0	0	17189	1696	59	3	2952	3	VPS13D	1	12336527	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	774625	12336527	236914094	12	125610											
VPS13D	55187	broad.mit.edu	37	chr1	12381923	12381923	+	Frame_Shift_Del	DEL	G	G	-													ctctttcaattgtggatcccGtacaaattcaaatggagttg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:12381922_12381922CG>C	uc001atv.3	+	32	7746	c.7605_7605CG>C	c.(7603-7605)cccfs	p.P2535fs	VPS13D_uc001atw.3_Frame_Shift_Del_p.P2535fs|VPS13D_uc001atx.3_Frame_Shift_Del_p.P1723fs|VPS13D_uc001aty.1_Frame_Shift_Del_p.P273fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2535					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)		TTGTGGATCCCGTACAAATTC	0.398													-	12381923	G	-	12381923	7	5	253	1	0	1	0	1	0	0	0	0	17189	1145	40	0	7732	0	VPS13D	1	12381923	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	45396	12381923	236868698	13	125611											
PRDM2	7799	broad.mit.edu	37	chr1	14107244	14107244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtattaactgttgccactcCgccccctcccctccttccta	5	19	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:14107244C>T	uc001avi.2	+	8	3810	c.2954C>T	c.(2953-2955)CCG>CTG	p.P985L	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P985L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P784L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	985	Pro-rich.|SH3-binding (Potential).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		GTTGCCACTCCGCCCCCTCCC	0.612													T	14107244	C	T	14107244	3	4	253	1	0	0	0	0	1	0	0	0	12458	652	23	1	2980	1	PRDM2	1	14107244	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1725321	14107244	235143377	14	125612											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17982495	17982495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcatggagtatatccCggagctggaggaggaggcgg	18	8	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:17982495C>T	uc001ban.2	+	24	2762	c.2603C>T	c.(2602-2604)CCG>CTG	p.P868L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P829L|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P829L|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P824L|ARHGEF10L_uc001baq.2_Missense_Mutation_p.P629L|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.P641L|ARHGEF10L_uc001bar.2_Missense_Mutation_p.P571L|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	868					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		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)		GAGTATATCCCGGAGCTGGAG	0.647													T	17982495	C	T	17982495	3	4	253	1	0	0	0	0	1	0	0	0	895	652	23	1	2693	1	ARHGEF10L	1	17982495	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3875251	17982495	231268126	15	125613											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809546	18809546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaccgcagcctgggcatcGccgtgtaccgctgcagcgcc	12	17	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:18809546G>A	uc001bax.2	+	1	2123	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	KLHDC7A_uc009vpg.2_Missense_Mutation_p.A473T	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	691						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		CCTGGGCATCGCCGTGTACCG	0.687													A	18809546	G	A	18809546	3	1	253	1	0	0	0	0	1	0	0	0	8360	1087	38	1	2073	1	KLHDC7A	1	18809546	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	827051	18809546	230441075	16	125614											
CAPZB	832	broad.mit.edu	37	chr1	19671731	19671731	+	Frame_Shift_Del	DEL	T	T	-													tggggagcagtcactcacagTttcatccttctccatctgca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:19671730_19671730GT>G	uc010ocz.2	-	6	1120	c.692_692AC>C	c.(691-693)actfs	p.T231fs	CAPZB_uc001bce.3_Frame_Shift_Del_p.T202fs|CAPZB_uc021ohr.1_Frame_Shift_Del_p.T202fs|CAPZB_uc009vpk.3_Frame_Shift_Del_p.T228fs	NM_004930	NP_004921	P47756	CAPZB_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, beta (CAPZB), transcript variant 1, mRNA.	202					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	F-actin capping protein complex|WASH complex|cytosol	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)		GTCACTCACAGTTTCATCCTT	0.557													-	19671731	T	-	19671731	7	5	253	1	0	1	0	1	0	0	0	0	2643	1725	60	0	226	0	CAPZB	1	19671731	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	862185	19671731	229578890	17	125615											
ID3	3399	broad.mit.edu	37	chr1	23885634	23885634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacctggatgggaaggtggGggccatcagggggtccaggg	20	7	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:23885634G>T	uc001bhh.3	-	1	689	c.284C>A	c.(283-285)CCC>CAC	p.P95H	ID3_uc001bhg.1_Missense_Mutation_p.P95H	NM_002167	NP_002158	Q02535	ID3_HUMAN	inhibitor of DNA binding 3	95					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	p.P95S(1)		central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-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)		GGGAAGGTGGGGGCCATCAGG	0.622													T	23885634	G	T	23885634	3	4	253	1	0	0	0	0	1	0	0	0	7491	1232	43	5	83	5	ID3	1	23885634	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4213903	23885634	225364987	18	125616											
LDLRAP1	26119	broad.mit.edu	37	chr1	25890244	25890244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaacatggacgaggtgCcgcggccacaagccttgagt	12	14	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:25890244C>T	uc001bkl.3	+	7	823	c.709C>T	c.(709-711)CCG>TCG	p.P237S	LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Missense_Mutation_p.P67S	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	237					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GGACGAGGTGCCGCGGCCACA	0.627													T	25890244	C	T	25890244	3	4	253	1	0	0	0	0	1	0	0	0	8708	739	26	2	735	2	LDLRAP1	1	25890244	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2004610	25890244	223360377	19	125617											
ARID1A	8289	broad.mit.edu	37	chr1	27089706	27089707	+	Frame_Shift_Ins	INS	-	-	G													agggatgtgtcccccaccagINSggggcatgaaccggaaaacc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:27089705_27089706A>AG	uc001bmv.1	+	7	3034_3035	c.2661_2662A>AG	c.(2659-2664)ccagggfs	p.P887fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.P887fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.P887fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.P504fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	887					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	SWI/SNF complex|nBAF complex|npBAF 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)		GTCCCCCACCAGGGGGCATGAA	0.574			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27089707	-	G	27089706	7	5	253	1	0	1	1	0	0	0	0	0	913	1000	35	0	2692	0	ARID1A	1	27089706	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1199462	27089706	222160915	20	125618											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	253	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	16225	27105931	222144690	21	125619											
MAP3K6	9064	broad.mit.edu	37	chr1	27687445	27687445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgccctccgcctcctcCgcgggcgccgtggaatccgg	13	21	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:27687445C>T	uc001bny.1	-	14	2136	c.1887G>A	c.(1885-1887)GCG>GCA	p.A629A	MAP3K6_uc009vsw.1_Silent_p.A621A|MAP3K6_uc001bnz.1_Silent_p.A152A	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	629					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		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)		CCGCCTCCTCCGCGGGCGCCG	0.716													T	27687445	C	T	27687445	2	4	253	1	0	0	0	0	0	0	0	1	9254	639	23	1		1	MAP3K6	1	27687445	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	581514	27687445	221563176	22	125620											
SFRS4	6429	broad.mit.edu	37	chr1	29475303	29475303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactcttgctgcggctgcgActgcgactgcggctctcctc	11	16	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:29475303A>G	uc001bro.2	-	6	1477	c.1104T>C	c.(1102-1104)AGT>AGC	p.S368S	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	368	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		tgcggctgcgactgcgactgc	0.08													G	29475303	A	G	29475303	2	3	253	1	0	0	0	0	0	0	0	1	14179	272	10	3		3	SFRS4	1	29475303	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1787858	29475303	219775318	23	125621											
SERINC2	347735	broad.mit.edu	37	chr1	31896597	31896597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgctgccccgccagcCgcaactccaccgtgagccgc	11	20	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:31896597C>T	uc010ogh.1	+	2	310	c.109C>T	c.(109-111)CGC>TGC	p.R37C	SERINC2_uc010ogg.1_Missense_Mutation_p.R34C|SERINC2_uc009vtw.1_Missense_Mutation_p.R33C|SERINC2_uc001bst.2_Missense_Mutation_p.R33C|SERINC2_uc001bsu.2_5'UTR|SERINC2_uc001bsv.2_5'UTR	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	33						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CCCCGCCAGCCGCAACTCCAC	0.652													T	31896597	C	T	31896597	3	4	253	1	0	0	0	0	1	0	0	0	14080	652	23	1	103	1	SERINC2	1	31896597	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2421294	31896597	217354024	24	125622											
S100PBP	64766	broad.mit.edu	37	chr1	33292220	33292221	+	Frame_Shift_Del	DEL	CT	CT	-													cgtccaaagatactgaaaaaCtctcttcccttggagaagag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:33292219_33292220ACT>A	uc001bvz.3	+	2	796_797	c.519_520ACT>A	c.(517-522)aaactcfs	p.K173fs	S100PBP_uc001bwa.1_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwb.1_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwc.3_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	173						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ATACTGAAAAACTCTCTTCCCT	0.401													-	33292221	CT	-	33292220	7	5	253	1	0	1	0	1	0	0	0	0	13791	565	20	0	522	0	S100PBP	1	33292220	Frame_Shift_Del	DEL	CT	TCGA-HJ-7597-01A-21D-2201-08	1395623	33292220	215958401	25	125623											
CSMD2	114784	broad.mit.edu	37	chr1	34003177	34003177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcctctctcctcccacGggacgggacaccaggatccc	10	18	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:34003177G>A	uc001bxn.1	-	60	9261	c.9232C>T	c.(9232-9234)CGT>TGT	p.R3078C	CSMD2_uc001bxm.1_Missense_Mutation_p.R3222C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3078	Extracellular (Potential).|Sushi 24.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCCTCCCACGGGACGGGACA	0.592													A	34003177	G	A	34003177	3	1	253	1	0	0	0	0	1	0	0	0	3945	1116	39	1	1271	1	CSMD2	1	34003177	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	710957	34003177	215247444	26	125624											
MACF1	23499	broad.mit.edu	37	chr1	39900149	39900149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaattcagagcgttatGcccgcctagagcgggcccag	11	13	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:39900149G>A	uc010oiu.1	+	33	13080	c.12949G>A	c.(12949-12951)GCC>ACC	p.A4317T	MACF1_uc010ois.1_Missense_Mutation_p.A3815T|MACF1_uc001cda.1_Missense_Mutation_p.A3702T|MACF1_uc001cdc.1_Missense_Mutation_p.A2772T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			AGAGCGTTATGCCCGCCTAGA	0.423													A	39900149	G	A	39900149	3	1	253	1	0	0	0	0	1	0	0	0	9144	1319	46	2	17848	2	MACF1	1	39900149	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5896972	39900149	209350472	27	125625											
PPIE	10450	broad.mit.edu	37	chr1	40204576	40204576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcgcgcgagcaagatgGccaccaccaagcgcgtcttg	12	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:40204576G>A	uc001cds.1	+	1	47	c.4G>A	c.(4-6)GCC>ACC	p.A2T	PPIE_uc001cdt.1_5'UTR|PPIE_uc010oiy.1_5'UTR|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.A2T|PPIE_uc001cdw.2_Missense_Mutation_p.A2T	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	2					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCAAGATGGCCACCACCAA	0.682													A	40204576	G	A	40204576	3	1	253	1	0	0	0	0	1	0	0	0	12322	1203	42	2	6	2	PPIE	1	40204576	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	304427	40204576	209046045	28	125626											
KIAA0467	23334	broad.mit.edu	37	chr1	43912756	43912756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggtgctgcggcacgGctaccacctcaccacctttc	8	18	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:43912756G>A	uc001cjk.1	+	51	6968	c.6506G>A	c.(6505-6507)GGC>GAC	p.G2169D	KIAA0467_uc001cjl.1_Missense_Mutation_p.G157D	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3068						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCGGCACGGCTACCACCTC	0.602													A	43912756	G	A	43912756	3	1	253	1	0	0	0	0	1	0	0	0	8178	1203	42	2	6700	2	KIAA0467	1	43912756	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3708180	43912756	205337865	29	125627											
PTPRF	5792	broad.mit.edu	37	chr1	44056811	44056811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtgtggccaccacccGctacagcattggcggcctca	13	14	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:44056811G>A	uc001cjr.2	+	9	1458	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	PTPRF_uc001cjs.2_Missense_Mutation_p.R373H|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	373	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCACCACCCGCTACAGCATT	0.657													A	44056811	G	A	44056811	3	1	253	1	0	0	0	0	1	0	0	0	12801	1087	38	1	1144	1	PTPRF	1	44056811	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	144055	44056811	205193810	30	125628											
PTPRF	5792	broad.mit.edu	37	chr1	44063476	44063476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgggctccaccacggtccGggtaagttgggtcccgccgc	14	15	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:44063476G>T	uc001cjr.2	+	12	2211	c.1871G>T	c.(1870-1872)CGG>CTG	p.R624L	PTPRF_uc001cjs.2_Missense_Mutation_p.R624L|PTPRF_uc001cju.2_Missense_Mutation_p.R195L|PTPRF_uc009vwt.2_Missense_Mutation_p.R195L|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	624	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCACGGTCCGGGTAAGTTGG	0.677													T	44063476	G	T	44063476	3	4	253	1	0	0	0	0	1	0	0	0	12801	1116	39	5	1909	5	PTPRF	1	44063476	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6665	44063476	205187145	31	125629											
B4GALT2	8704	broad.mit.edu	37	chr1	44447064	44447064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccaccgcctctagctccGggctccctgaggtccccagt	10	19	1	1	rs148339623		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:44447064G>A	uc001clg.2	+	2	602	c.232G>A	c.(232-234)GGG>AGG	p.G78R	B4GALT2_uc001clh.2_Silent_p.P26P|B4GALT2_uc010okl.1_Missense_Mutation_p.G107R|B4GALT2_uc001cli.2_Missense_Mutation_p.G78R	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	78	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CTCTAGCTCCGGGCTCCCTGA	0.632													A	44447064	G	A	44447064	3	1	253	1	0	0	0	0	1	0	0	0	1271	1116	39	1	234	1	B4GALT2	1	44447064	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	383588	44447064	204803557	32	125630											
PIK3R3	8503	broad.mit.edu	37	chr1	46511600	46511600	+	Frame_Shift_Del	DEL	A	A	-													gaagacttacaccacagagcAagcatagcatcctttcttgc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:46511600delA	uc001cpb.3	-	9	1933	c.1177delT	c.(1177-1179)TGCfs	p.C393fs	PIK3R3_uc009vyb.2_Frame_Shift_Del_p.C334fs|PIK3R3_uc009vyc.2_Frame_Shift_Del_p.C410fs|PIK3R3_uc001cpc.3_Frame_Shift_Del_p.C393fs|PIK3R3_uc010olw.1_Frame_Shift_Del_p.C439fs|PIK3R3_uc010olv.1_Frame_Shift_Del_p.C183fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	393	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					ACCACAGAGCAAGCATAGCAT	0.368													-	46511600	A	-	46511600	7	5	253	1	0	1	0	1	0	0	0	0	11920	130	5	0	216	0	PIK3R3	1	46511600	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	2064536	46511600	202739021	33	125631											
RAD54L	8438	broad.mit.edu	37	chr1	46743909	46743909	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctccactgccatcaccttCgtcttccaccagcgttctca	5	19	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:46743909C>T	uc009vye.2	+	19	2313	c.2199C>T	c.(2197-2199)TTC>TTT	p.F733F	RAD54L_uc001cpl.2_Silent_p.F733F|RAD54L_uc001cpm.1_Silent_p.F516F	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	733					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCATCACCTTCGTCTTCCACC	0.597								Direct_reversal_of_damage|Homologous_recombination					T	46743909	C	T	46743909	2	4	253	1	0	0	0	0	0	0	0	1	12993	883	31	1		1	RAD54L	1	46743909	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	232309	46743909	202506712	34	125632											
CYP4A11	1579	broad.mit.edu	37	chr1	47398673	47398674	+	Frame_Shift_Del	DEL	TT	TT	-													acctctgggttgggccacacTtttgggttgtggtgaaggcc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:47398672_47398673CTT>C	uc001cqp.4	-	9	1320_1321	c.1269_1270AAG>G	c.(1267-1272)aaagtgfs	p.K423fs	CYP4A11_uc001cqq.2_Frame_Shift_Del_p.K423fs	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	423					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)	TTGGGCCACACTTTTGGGTTGT	0.525													-	47398674	TT	-	47398673	7	5	253	1	0	1	0	1	0	0	0	0	4183	1606	56	0	302	0	CYP4A11	1	47398673	Frame_Shift_Del	DEL	TT	TCGA-HJ-7597-01A-21D-2201-08	654764	47398673	201851948	35	125633											
BEND5	79656	broad.mit.edu	37	chr1	49224896	49224896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgttctgcttctctagccGagccaccactgcctcgatgc	9	17	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:49224896G>A	uc001crx.3	-	3	465	c.421C>T	c.(421-423)CGG>TGG	p.R141W	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_5'UTR	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	141										skin(1)	1						TTCTCTAGCCGAGCCACCACT	0.607													A	49224896	G	A	49224896	3	1	253	1	0	0	0	0	1	0	0	0	1401	1057	37	1	860	1	BEND5	1	49224896	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1826223	49224896	200025725	36	125634											
ZFYVE9	9372	broad.mit.edu	37	chr1	52811808	52811808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggacagcgccttggtgcCggtgatccatggaggggcct	16	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:52811808C>T	uc001cto.2	+	19	4365	c.4193C>T	c.(4192-4194)CCG>CTG	p.P1398L	ZFYVE9_uc001ctp.2_Missense_Mutation_p.P1339L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1398					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			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GCCTTGGTGCCGGTGATCCAT	0.512													T	52811808	C	T	52811808	3	4	253	1	0	0	0	0	1	0	0	0	17668	652	23	1	4270	1	ZFYVE9	1	52811808	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3586912	52811808	196438813	37	125635											
C1orf175	374977	broad.mit.edu	37	chr1	55119617	55119617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaatgagactctgagcctgGactccagcctcctgttcagc	9	15	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:55119617G>A	uc010ooe.1	+	3	1342	c.1018G>A	c.(1018-1020)GAC>AAC	p.D340N	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.D340N|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D340N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	340	Ser-rich.					integral to membrane	binding				0						TCTGAGCCTGGACTCCAGCCT	0.567													A	55119617	G	A	55119617	3	1	253	1	0	0	0	0	1	0	0	0	2016	1174	41	4	1020	4	C1orf175	1	55119617	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2307809	55119617	194131004	38	125636											
JAK1	3716	broad.mit.edu	37	chr1	65301870	65301870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaggcaatataaaattTagattgcattaaacattctg	7	5	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:65301870T>C	uc001dbu.1	-	23	3418	c.3169A>G	c.(3169-3171)AAA>GAA	p.K1057E	JAK1_uc009wam.1_Missense_Mutation_p.K1045E|JAK1_uc009wal.1_Missense_Mutation_p.K234E	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	1057	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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ATATAAAATTTAGATTGCATT	0.428			Mis		ALL								C	65301870	T	C	65301870	3	2	253	1	0	0	0	0	1	0	0	0	7937	1763	61	3	307	3	JAK1	1	65301870	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	10182253	65301870	183948751	39	125637											
JAK1	3716	broad.mit.edu	37	chr1	65321216	65321216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgggctggcagcagcGttttagcatgaagctgatgt	16	7	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:65321216G>A	uc001dbu.1	-	11	1873	c.1624C>T	c.(1624-1626)CGC>TGC	p.R542C	JAK1_uc009wam.1_Missense_Mutation_p.R530C	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	542	SH2.				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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGGCAGCAGCGTTTTAGCATG	0.577			Mis		ALL								A	65321216	G	A	65321216	3	1	253	1	0	0	0	0	1	0	0	0	7937	1145	40	1	1900	1	JAK1	1	65321216	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	19346	65321216	183929405	40	125638											
PDE4B	5142	broad.mit.edu	37	chr1	66831415	66831415	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatccatgacgttgatcaTcctggagtctccaatcagtt	8	12	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:66831415T>C	uc001dcn.2	+	13	1541	c.1350T>C	c.(1348-1350)CAT>CAC	p.H450H	PDE4B_uc009war.2_Silent_p.H358H|PDE4B_uc001dco.2_Silent_p.H450H|PDE4B_uc001dcp.2_Silent_p.H435H|PDE4B_uc001dcq.2_Silent_p.H278H|PDE4B_uc009was.2_Silent_p.H217H	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	450					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACGTTGATCATCCTGGAGTCT	0.428													C	66831415	T	C	66831415	2	2	253	1	0	0	0	0	0	0	0	1	11640	1432	50	3		3	PDE4B	1	66831415	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1510199	66831415	182419206	41	125639											
TYW3	127253	broad.mit.edu	37	chr1	75229742	75229743	+	In_Frame_Ins	INS	-	-	ATG													agtgatgaagaacttgaaaaINStgatgatgatgatgatctag					rs112765232	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:75229741_75229742A>AATG	uc001dgn.3	+	5	817_818	c.724_725A>AATG	c.(724-726)aat>AATGt	p.N242N	TYW3_uc010oqw.2_In_Frame_Ins_p.N209N|TYW3_uc010oqx.2_In_Frame_Ins_p.N158N|TYW3_uc010oqy.2_Non-coding_Transcript	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	Homo sapiens tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) (TYW3), transcript variant 1, mRNA.	242					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AGAACTTGAAAATGATGATGAT	0.337													ATG	75229743	-	ATG	75229742	7	5	253	1	0	1	1	0	0	0	0	0	16817	101	4	0	747	0	TYW3	1	75229742	In_Frame_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	8398327	75229742	174020879	42	125640											
ACADM	34	broad.mit.edu	37	chr1	76200474	76200474	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgtcaattttcttcggtAgcaaatgcctattattattg	6	6	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:76200474A>G	uc001dgw.3	+	6	818	c.388_splice	c.e6-2	p.Q130_splice	ACADM_uc010orc.1_Splice_Site_p.A96_splice|ACADM_uc010ord.1_Splice_Site_p.Q44_splice|ACADM_uc009wbp.2_Splice_Site_p.Q134_splice|ACADM_uc009wbr.2_Splice_Site_p.Q163_splice|ACADM_uc010ore.1_Splice_Site_p.Q94_splice|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_Splice_Site_p.Q44_splice|ACADM_uc010org.1_Splice_Site	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a						carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						TTTCTTCGGTAGCAAATGCCT	0.308													G	76200474	A	G	76200474	5	3	253	1	0	0	0	0	0	0	1	0	113	434	15	3	420	3	ACADM	1	76200474	Splice_Site	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	970732	76200474	173050147	43	125641											
FAM73A	374986	broad.mit.edu	37	chr1	78279472	78279472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaacaagctctgacctttCgcaatagacaggctgaagat	11	9	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:78279472C>T	uc001dhx.2	+	6	723	c.691C>T	c.(691-693)CGC>TGC	p.R231C	FAM73A_uc010ork.1_Missense_Mutation_p.R231C|FAM73A_uc010orl.1_Missense_Mutation_p.R193C|FAM73A_uc001dhy.1_Missense_Mutation_p.R20C	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	231						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TCTGACCTTTCGCAATAGACA	0.408													T	78279472	C	T	78279472	3	4	253	1	0	0	0	0	1	0	0	0	5617	884	31	1	713	1	FAM73A	1	78279472	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2078998	78279472	170971149	44	125642											
DNAJB4	11080	broad.mit.edu	37	chr1	78470858	78470858	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcagatgaagatattaaaAaggcttaccgaaaacaagcc	7	8	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:78470858A>T	uc001dij.2	+	1	223	c.64A>T	c.(64-66)AAG>TAG	p.K22*	DNAJB4_uc010orn.1_Intron	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	22	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0						AGATATTAAAAAGGCTTACCG	0.368													T	78470858	A	T	78470858	4	4	253	1	0	0	0	0	0	1	0	0	4622	15	1	5	66	5	DNAJB4	1	78470858	Nonsense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	191386	78470858	170779763	45	125643											
FNBP1L	54874	broad.mit.edu	37	chr1	93996334	93996334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacagcagttgaatctgcGtacgcatatggccgatgaaa	10	9	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:93996334G>A	uc001dpw.2	+	7	533	c.533G>A	c.(532-534)CGT>CAT	p.R178H	FNBP1L_uc001dpv.2_Missense_Mutation_p.R178H|FNBP1L_uc010otk.1_5'UTR	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	178	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TTGAATCTGCGTACGCATATG	0.318													A	93996334	G	A	93996334	3	1	253	1	0	0	0	0	1	0	0	0	5966	1145	40	1	559	1	FNBP1L	1	93996334	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	15525476	93996334	155254287	46	125644											
SARS	6301	broad.mit.edu	37	chr1	109772104	109772104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcctgaagtgtgacgcGgagcggataaagttggaagc	15	8	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:109772104G>A	uc001dwu.1	+	4	432	c.357G>A	c.(355-357)GCG>GCA	p.A119A	SARS_uc001dwt.1_Silent_p.A119A|SARS_uc001dwv.1_Silent_p.A119A|SARS_uc001dww.1_Silent_p.A52A|SARS_uc001dwx.1_Silent_p.A119A|SARS_uc009wfa.1_Silent_p.A119A|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	119					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGTGTGACGCGGAGCGGATAA	0.507													A	109772104	G	A	109772104	2	1	253	1	0	0	0	0	0	0	0	1	13844	1103	39	1		1	SARS	1	109772104	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	15775770	109772104	139478517	47	125645											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112998629	112998629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcagctggaagaggagcGctcccgccacaagcagctct	12	13	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:112998629G>A	uc001ebx.2	+	6	743	c.515G>A	c.(514-516)CGC>CAC	p.R172H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	172	Potential.					actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		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)		GAAGAGGAGCGCTCCCGCCAC	0.468													A	112998629	G	A	112998629	3	1	253	1	0	0	0	0	1	0	0	0	4046	1087	38	1	529	1	CTTNBP2NL	1	112998629	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3226525	112998629	136251992	48	125646											
MOV10	4343	broad.mit.edu	37	chr1	113234345	113234345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatactacccacctcccCgcctcaggcagctgctcccc	7	21	1	0	rs148870988		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:113234345C>T	uc001eck.2	+	6	1165	c.895C>T	c.(895-897)CGC>TGC	p.R299C	MOV10_uc001ecl.2_Missense_Mutation_p.R299C|MOV10_uc001ecn.2_Missense_Mutation_p.R299C|MOV10_uc001ecm.2_Missense_Mutation_p.R239C|MOV10_uc009wgj.1_Missense_Mutation_p.R239C	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	299					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			ovary(4)|skin(1)	5	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)		CCCACCTCCCCGCCTCAGGCA	0.547													T	113234345	C	T	113234345	3	4	253	1	0	0	0	0	1	0	0	0	9718	652	23	1	913	1	MOV10	1	113234345	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	235716	113234345	136016276	49	125647											
OLFML3	56944	broad.mit.edu	37	chr1	114523959	114523960	+	Frame_Shift_Ins	INS	-	-	C													tcccagcagaggggctgatcINScccccctacggcttgacagc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:114523958_114523959T>TC	uc001eer.1	+	2	897_898	c.788_789T>TC	c.(787-789)atcfs	p.I263fs	OLFML3_uc001ees.1_Frame_Shift_Ins_p.I243fs|OLFML3_uc001eet.1_Frame_Shift_Ins_p.I119fs	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	263	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)		GAGGGGCTGATCCCCCCCTACG	0.559													C	114523960	-	C	114523959	7	5	253	1	0	1	1	0	0	0	0	0	10859	845	30	0	799	0	OLFML3	1	114523959	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1289614	114523959	134726662	50	125648											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:115256529T>C	uc009wgu.2	-	3	436	c.182A>G	c.(181-183)CAA>CGA	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61	GTP.		Q -> K (in neuroblastoma cell).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)		haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		melanoma|MM|AML|thyroid				Noonan_syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			C	115256529	T	C	115256529	3	2	253	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	732570	115256529	133994092	51	125649											
TRIM45	80263	broad.mit.edu	37	chr1	117660760	117660760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcctgaggacagaagCgtatcttatcatttactcca	6	11	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:117660760C>T	uc001egz.2	-	2	1706	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	TRIM45_uc009whe.2_Missense_Mutation_p.R373H|TRIM45_uc001eha.2_Missense_Mutation_p.R269H	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	373						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	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)		AGGACAGAAGCGTATCTTATC	0.468													T	117660760	C	T	117660760	3	4	253	1	0	0	0	0	1	0	0	0	16517	768	27	1	644	1	TRIM45	1	117660760	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2404231	117660760	131589861	52	125650											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474607	145474607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggccgggtttcctacccCctctcaacgtcagtccccac	8	20	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:145474607C>A	uc001enq.1	+	4	2572	c.1279C>A	c.(1279-1281)CCT>ACT	p.P427T	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	427	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTCCTACCCCCTCTCAACGT	0.687													A	145474607	C	A	145474607	3	1	253	1	0	0	0	0	1	0	0	0	662	623	22	5	1281	5	ANKRD34A	1	145474607	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	27813847	145474607	103776014	53	125651											
PIAS3	10401	broad.mit.edu	37	chr1	145578119	145578119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcttggctttgctggcCggaacaagagtggacggaag	15	8	1	1	rs142721064		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:145578119C>T	uc001eoc.1	+	2	173	c.82C>T	c.(82-84)CGG>TGG	p.R28W	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.R19W|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	28	SAP.				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			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTTGCTGGCCGGAACAAGAG	0.542													T	145578119	C	T	145578119	3	4	253	1	0	0	0	0	1	0	0	0	11877	643	23	1	88	1	PIAS3	1	145578119	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	103512	145578119	103672502	54	125652											
PRPF3	9129	broad.mit.edu	37	chr1	150318544	150318544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaagattgaagccaatgCtgggcaactgtacctgacag	11	9	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:150318544C>T	uc001eum.3	+	13	1853	c.1691C>T	c.(1690-1692)GCT>GTT	p.A564V	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.A523V|PRPF3_uc010pcb.1_Missense_Mutation_p.A515V|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	564					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	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)		GAAGCCAATGCTGGGCAACTG	0.483													T	150318544	C	T	150318544	3	4	253	1	0	0	0	0	1	0	0	0	12565	797	28	2	1737	2	PRPF3	1	150318544	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4740425	150318544	98932077	55	125653											
RPRD2	23248	broad.mit.edu	37	chr1	150444786	150444786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaatagaggacatgggcGtgaggcttcaagggtgggtt	19	4	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:150444786G>A	uc009wlr.2	+	11	3563	c.3362G>A	c.(3361-3363)CGT>CAT	p.R1121H	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1095H	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1121							protein binding			ovary(1)	1						GGACATGGGCGTGAGGCTTCA	0.542													A	150444786	G	A	150444786	3	1	253	1	0	0	0	0	1	0	0	0	13617	1145	40	1	3404	1	RPRD2	1	150444786	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	126242	150444786	98805835	56	125654											
LYSMD1	388695	broad.mit.edu	37	chr1	151133390	151133390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttcatcctcctggtcccGtagtgtccgggtccgagagg	13	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:151133390G>A	uc001ewy.2	-	3	1288	c.652C>T	c.(652-654)CGG>TGG	p.R218W	LYSMD1_uc010pcr.1_Missense_Mutation_p.R170W	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain	218					cell wall macromolecule catabolic process						0	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)			TCCTGGTCCCGTAGTGTCCGG	0.567													A	151133390	G	A	151133390	3	1	253	1	0	0	0	0	1	0	0	0	9124	1144	40	1	35	1	LYSMD1	1	151133390	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	688604	151133390	98117231	57	125655											
POGZ	23126	broad.mit.edu	37	chr1	151400826	151400827	+	Frame_Shift_Ins	INS	-	-	T													tgtggagcctggcctcacagINSgggtcatctgggagaacact							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:151400825_151400826A>AT	uc001eyd.2	-	5	947_948	c.632_633T>AT	c.(631-633)cctfs	p.P211fs	POGZ_uc021oyq.1_Frame_Shift_Ins_p.P158fs|POGZ_uc010pdb.2_Frame_Shift_Ins_p.P211fs|POGZ_uc010pdc.2_Frame_Shift_Ins_p.P158fs|POGZ_uc009wmv.2_Frame_Shift_Ins_p.P116fs|POGZ_uc001eyf.2_Frame_Shift_Ins_p.P158fs|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Frame_Shift_Ins_p.P211fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	211					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.P211H(2)		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)			CTGGCCTCACAGGGGTCATCTG	0.55													T	151400827	-	T	151400826	7	5	253	1	0	1	1	0	0	0	0	0	12186	1000	35	0	3670	0	POGZ	1	151400826	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	267436	151400826	97849795	58	125656											
HRNR	388697	broad.mit.edu	37	chr1	152191933	152191933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgtgttttctgtagccGgaggagtgacttgagccaga	15	8	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:152191933G>A	uc001ezt.1	-	3	2248	c.2172C>T	c.(2170-2172)TCC>TCT	p.S724S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	724	7.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGTAGCCGGAGGAGTGAC	0.542													A	152191933	G	A	152191933	2	1	253	1	0	0	0	0	0	0	0	1	7359	1103	39	1		1	HRNR	1	152191933	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	791107	152191933	97058688	59	125657											
ADAR	103	broad.mit.edu	37	chr1	154571020	154571020	+	Frame_Shift_Del	DEL	G	G	-													tcttgcttccagcttcagctGggggaaactctcggccattg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:154571019_154571019TG>T	uc001ffh.3	-	2	1886	c.1644_1644CA>A	c.(1642-1644)ccafs	p.P548fs	ADAR_uc021pag.1_Frame_Shift_Del_p.P253fs|ADAR_uc001ffj.3_Frame_Shift_Del_p.P548fs|ADAR_uc001ffi.3_Frame_Shift_Del_p.P548fs|ADAR_uc001ffk.3_Frame_Shift_Del_p.P253fs	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	548	DRBM 1.				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)		CAGCTTCAGCTGGGGGAAACT	0.473													-	154571020	G	-	154571020	7	5	253	1	0	1	0	1	0	0	0	0	281	1348	47	0	2089	0	ADAR	1	154571020	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	2379087	154571020	94679601	60	125658											
VHLL	391104	broad.mit.edu	37	chr1	156268591	156268592	+	Frame_Shift_Ins	INS	-	-	A													actgcagtgtgatgttggcaINSaaaacaggctgtccattaac							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:156268590_156268591C>CA	uc001fok.3	-	0	838_839	c.390_391G>TG	c.(388-393)tttgccfs	p.F130fs		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	130	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					GTGATGTTGGCAAAAACAGGCT	0.46													A	156268592	-	A	156268591	7	5	253	1	0	1	1	0	0	0	0	0	17160	127	5	0	33	0	VHLL	1	156268591	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1697571	156268591	92982030	61	125659											
KIRREL	55243	broad.mit.edu	37	chr1	158064489	158064489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaccgcccgtcttccaGggcagtgctctatgctgact	11	13	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:158064489G>T	uc001frn.3	+	15	2257	c.1853G>T	c.(1852-1854)AGG>ATG	p.R618M	KIRREL_uc010pib.1_Missense_Mutation_p.R518M|KIRREL_uc009wsq.2_Missense_Mutation_p.R454M|KIRREL_uc001fro.3_Missense_Mutation_p.R432M|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	618	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCGTCTTCCAGGGCAGTGCTC	0.637													T	158064489	G	T	158064489	3	4	253	1	0	0	0	0	1	0	0	0	8324	1000	35	5	1911	5	KIRREL	1	158064489	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1795898	158064489	91186132	62	125660											
OR10J5	127385	broad.mit.edu	37	chr1	159505663	159505663	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgcagatgatagtcacAatgatgatgttagcaaccag	9	7	2	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:159505663A>G	uc010piw.1	-	1	135	c.135T>C	c.(133-135)ATT>ATC	p.I45I		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					TGATAGTCACAATGATGATGT	0.413													G	159505663	A	G	159505663	2	3	253	1	0	0	0	0	0	0	0	1	10912	126	5	3		3	OR10J5	1	159505663	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1441174	159505663	89744958	63	125661											
IGSF9	57549	broad.mit.edu	37	chr1	159898247	159898247	+	Frame_Shift_Del	DEL	G	G	-													gccccaggaagtgattccctGggggatacaggaggggtttc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:159898247delG	uc001fur.2	-	19	3129	c.2931delC	c.(2929-2931)CCCfs	p.P977fs	IGSF9_uc001fuq.2_Frame_Shift_Del_p.P961fs|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Frame_Shift_Del_p.P123fs	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	977	Pro-rich.|Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGATTCCCTGGGGGATACAG	0.627													-	159898247	G	-	159898247	7	5	253	1	0	1	0	1	0	0	0	0	7605	1335	47	0	620	0	IGSF9	1	159898247	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	392584	159898247	89352374	64	125662											
PIGM	93183	broad.mit.edu	37	chr1	160000584	160000584	+	Frame_Shift_Del	DEL	A	A	-													ggacgtatgaagaaaacaacAaaaaacgaggtctctgtaat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:160000584delA	uc001fuv.1	-	1	1200	c.946delT	c.(946-948)TGTfs	p.C316fs		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	316	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAAAACAACAAAAAACGAGG	0.443													-	160000584	A	-	160000584	7	5	253	1	0	1	0	1	0	0	0	0	11892	130	5	0	329	0	PIGM	1	160000584	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	102337	160000584	89250037	65	125663											
ATP1A2	477	broad.mit.edu	37	chr1	160106150	160106150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcatcagcatggcctaCggacagatcggtgcgccaag	13	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:160106150C>T	uc001fvc.2	+	18	2685	c.2553C>T	c.(2551-2553)TAC>TAT	p.Y851Y	ATP1A2_uc001fvb.2_Silent_p.Y851Y|ATP1A2_uc001fvd.2_Silent_p.Y587Y	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	851	Helical; (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			GCATGGCCTACGGACAGATCG	0.577													T	160106150	C	T	160106150	2	4	253	1	0	0	0	0	0	0	0	1	1129	547	19	1		1	ATP1A2	1	160106150	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	105566	160106150	89144471	66	125664											
ADAMTS4	9507	broad.mit.edu	37	chr1	161160941	161160941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggttatttcctgcccGcccaggggcgccgccgaagg	15	13	0	1	rs114600134	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:161160941G>A	uc001fyt.3	-	9	2929	c.2501C>T	c.(2500-2502)GCG>GTG	p.A834V		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	834	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTCCTGCCCGCCCAGGGGCG	0.637													A	161160941	G	A	161160941	3	1	253	1	0	0	0	0	1	0	0	0	268	1087	38	1	16	1	ADAMTS4	1	161160941	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1054791	161160941	88089680	67	125665											
UAP1	6675	broad.mit.edu	37	chr1	162546600	162546602	+	In_Frame_Del	DEL	TTC	TTC	-													ttctcagaataaagtagcagTtcttcttctagctggtgggc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:162546599_162546601GTTC>G	uc001gce.4	+	2	642_644	c.313_315GTTC>G	c.(313-315)gtt>G	p.V105del		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	105					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	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)			TAAAGTAGCAGTTCTTCTTCTAG	0.394													-	162546602	TTC	-	162546600	7	5	253	1	0	1	0	1	0	0	0	0	16822	1725	60	0	320	0	UAP1	1	162546600	In_Frame_Del	DEL	TTC	TCGA-HJ-7597-01A-21D-2201-08	1385659	162546600	86704021	68	125666											
F5	2153	broad.mit.edu	37	chr1	169511840	169511840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatagggtcttcagaatatgGgctggaatgctctgctgtgg	14	6	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:169511840G>T	uc001ggg.1	-	13	2633	c.2488C>A	c.(2488-2490)CCA>ACA	p.P830T		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	830	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCAGAATATGGGCTGGAATGC	0.488													T	169511840	G	T	169511840	3	4	253	1	0	0	0	0	1	0	0	0	5348	1232	43	5	4238	5	F5	1	169511840	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6965240	169511840	79738781	69	125667											
F5	2153	broad.mit.edu	37	chr1	169511874	169511874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggaagaattgagaacTgagttcttgccaatgaggtg	14	5	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:169511874T>C	uc001ggg.1	-	13	2599	c.2454A>G	c.(2452-2454)TCA>TCG	p.S818S		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	818	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AATTGAGAACTGAGTTCTTGC	0.488													C	169511874	T	C	169511874	2	2	253	1	0	0	0	0	0	0	0	1	5348	1567	55	3		3	F5	1	169511874	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	34	169511874	79738747	70	125668											
CACYBP	27101	broad.mit.edu	37	chr1	174976324	174976324	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccatctctgtggaaggcagTtcaaaaaaagtgagtgtgct	11	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:174976324T>A	uc001gkj.1	+	4	848	c.423T>A	c.(421-423)AGT>AGA	p.S141R	CACYBP_uc001gki.1_Missense_Mutation_p.S98R	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN	calcyclin binding protein isoform 1	141	Interaction with SKP1.|CS.					beta-catenin destruction complex	protein homodimerization activity				0						TGGAAGGCAGTTCAAAAAAAG	0.358													A	174976324	T	A	174976324	3	1	253	1	0	0	0	0	1	0	0	0	2564	1722	60	5	437	5	CACYBP	1	174976324	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	5464450	174976324	74274297	71	125669											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834299	178834299	+	Frame_Shift_Del	DEL	A	A	-													cacatgggtgtcttgtcgggAaaatatcctcaagcactgtt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:178834299delA	uc001gma.2	-	3	1089	c.613delT	c.(613-615)TCCfs	p.S205fs	RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Frame_Shift_Del_p.S205fs|ANGPTL1_uc010pnc.1_Frame_Shift_Del_p.S127fs	NM_004673	NP_004664	O95841	ANGL1_HUMAN	angiopoietin-like 1 precursor	205						extracellular space	receptor binding				0						TCTTGTCGGGAAAATATCCTC	0.463													-	178834299	A	-	178834299	7	5	253	1	0	1	0	1	0	0	0	0	613	246	9	0	878	0	ANGPTL1	1	178834299	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	3857975	178834299	70416322	72	125670											
ABL2	27	broad.mit.edu	37	chr1	179078099	179078099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtcatcactggctgtgGgtttacctgctcgtaagccc	11	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:179078099G>A	uc001gmj.3	-	12	2590	c.2303C>T	c.(2302-2304)CCC>CTC	p.P768L	ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Missense_Mutation_p.P747L|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Missense_Mutation_p.P753L|ABL2_uc001gmh.3_Missense_Mutation_p.P732L|ABL2_uc010pne.1_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	768	F-actin-binding (By similarity).				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			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ACTGGCTGTGGGTTTACCTGC	0.532			T	ETV6	AML								A	179078099	G	A	179078099	3	1	253	1	0	0	0	0	1	0	0	0	93	1232	43	4	1249	4	ABL2	1	179078099	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	243800	179078099	70172522	73	125671											
DHX9	1660	broad.mit.edu	37	chr1	182856514	182856514	+	Frame_Shift_Del	DEL	G	G	-													attccagcgaggaggtggtaGgggggcctatggaactggct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:182856513_182856513AG>A	uc001gpr.3	+	27	3932	c.3757_3757AG>A	c.(3757-3759)aggfs	p.R1253fs	DHX9_uc001gps.3_Frame_Shift_Del_p.R1039fs|DHX9_uc001gpt.3_Frame_Shift_Del_p.R532fs|DHX9_uc009wyd.3_Frame_Shift_Del_p.R218fs	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1253	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|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						AGGAGGTGGTAGGGGGGCCTA	0.527													-	182856514	G	-	182856514	7	5	253	1	0	1	0	1	0	0	0	0	4516	1000	35	0	3864	0	DHX9	1	182856514	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	3778415	182856514	66394107	74	125672											
HMCN1	83872	broad.mit.edu	37	chr1	186008082	186008082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctggcatatataaatgCgtggccatcaactcagctgg	11	9	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:186008082C>T	uc001grq.1	+	38	6202	c.5973C>T	c.(5971-5973)TGC>TGT	p.C1991C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1991	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TATATAAATGCGTGGCCATCA	0.433													T	186008082	C	T	186008082	2	4	253	1	0	0	0	0	0	0	0	1	7220	776	27	1		1	HMCN1	1	186008082	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3151568	186008082	63242539	75	125673											
HMCN1	83872	broad.mit.edu	37	chr1	186114898	186114898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacagtggatggaagttgGggaagctggcatagttggag	17	4	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:186114898G>T	uc001grq.1	+	93	14680	c.14451G>T	c.(14449-14451)TGG>TGT	p.W4817C	HMCN1_uc001grs.1_Missense_Mutation_p.W386C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATGGAAGTTGGGGAAGCTGGC	0.502													T	186114898	G	T	186114898	3	4	253	1	0	0	0	0	1	0	0	0	7220	1241	43	5	14821	5	HMCN1	1	186114898	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	106816	186114898	63135723	76	125674											
ZBTB41	360023	broad.mit.edu	37	chr1	197144169	197144169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctctccaaggtgtacGcttttgtaatgaacagtgag	9	8	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:197144169G>A	uc001gtx.1	-	8	2025	c.1956C>T	c.(1954-1956)AGC>AGT	p.S652S	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	652	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CAAGGTGTACGCTTTTGTAAT	0.353													A	197144169	G	A	197144169	2	1	253	1	0	0	0	0	0	0	0	1	17540	1078	38	1		1	ZBTB41	1	197144169	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	11029271	197144169	52106452	77	125675											
PPP1R12B	4660	broad.mit.edu	37	chr1	202409874	202409874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattagttcactagcaccccGgaagctcaacagcacaagtg	8	12	2	0	rs111305872		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:202409874G>T	uc001gya.1	+	11	1643	c.1499G>T	c.(1498-1500)CGG>CTG	p.R500L	PPP1R12B_uc001gxz.1_Missense_Mutation_p.R500L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	500					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTAGCACCCCGGAAGCTCAAC	0.388													T	202409874	G	T	202409874	3	4	253	1	0	0	0	0	1	0	0	0	12355	1116	39	5	1631	5	PPP1R12B	1	202409874	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5265705	202409874	46840747	78	125676											
PPP1R12B	4660	broad.mit.edu	37	chr1	202549645	202549645	+	Frame_Shift_Del	DEL	A	A	-													caaccagaggctgaaagatgAaaatggtgccctcatcagag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:202549644_202549644GA>G	uc001gya.2	+	23	3055	c.2905_2905GA>G	c.(2905-2907)gaafs	p.E969fs	PPP1R12B_uc001gyb.1_3'UTR|PPP1R12B_uc001gyc.1_Frame_Shift_Del_p.E195fs|PPP1R12B_uc021pho.1_Frame_Shift_Del_p.E173fs	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	969					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)			GCTGAAAGATGAAAATGGTGC	0.512													-	202549645	A	-	202549645	7	5	253	1	0	1	0	1	0	0	0	0	12355	246	9	0	3229	0	PPP1R12B	1	202549645	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	139771	202549645	46700976	79	125677											
CNTN2	6900	broad.mit.edu	37	chr1	205033795	205033795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatcataagaaacatcaGccggtcagatgaaggcaaat	9	8	3	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205033795G>A	uc001hbr.2	+	12	1705	c.1436G>A	c.(1435-1437)AGC>AAC	p.S479N	CNTN2_uc001hbq.1_Missense_Mutation_p.S370N|CNTN2_uc001hbs.2_Missense_Mutation_p.S267N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	479	Ig-like C2-type 5.				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			ovary(1)	1	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)			AGAAACATCAGCCGGTCAGAT	0.527													A	205033795	G	A	205033795	3	1	253	1	0	0	0	0	1	0	0	0	3641	971	34	2	1478	2	CNTN2	1	205033795	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2484150	205033795	44216826	80	125678											
TMCC2	9911	broad.mit.edu	37	chr1	205210709	205210709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagccgccgtcggtctcGggaaagggagcaccagacgt	14	14	1	1	rs138497244	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205210709G>A	uc001hbz.1	+	3	728	c.284G>A	c.(283-285)CGG>CAG	p.R95Q	TMCC2_uc010prf.1_Missense_Mutation_p.R17Q	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	95						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCGGTCTCGGGAAAGGGAG	0.587													A	205210709	G	A	205210709	3	1	253	1	0	0	0	0	1	0	0	0	15990	1116	39	1	290	1	TMCC2	1	205210709	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	176914	205210709	44039912	81	125679											
TMCC2	9911	broad.mit.edu	37	chr1	205210851	205210851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtccctgcacgacctgccCgcccggcccaccgccttcaa	8	21	1	0	rs140397839		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205210851C>T	uc001hbz.1	+	3	870	c.426C>T	c.(424-426)CCC>CCT	p.P142P	TMCC2_uc010prf.1_Silent_p.P64P	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	142						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGACCTGCCCGCCCGGCCCA	0.597													T	205210851	C	T	205210851	2	4	253	1	0	0	0	0	0	0	0	1	15990	639	23	1		1	TMCC2	1	205210851	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	142	205210851	44039770	82	125680											
CDK18	5129	broad.mit.edu	37	chr1	205492350	205492350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttctccctgtcagtgcccCgcactgagaccattgaagaa	9	13	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205492350C>A	uc001hcr.2	+	2	274	c.55C>A	c.(55-57)CGC>AGC	p.R19S	CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.R19S|CDK18_uc001hcq.2_Missense_Mutation_p.R19S|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	17							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						GTCAGTGCCCCGCACTGAGAC	0.552													A	205492350	C	A	205492350	3	1	253	1	0	0	0	0	1	0	0	0	3134	652	23	5	57	5	CDK18	1	205492350	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	281499	205492350	43758271	83	125681											
NUCKS1	64710	broad.mit.edu	37	chr1	205687461	205687461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccttcatccccagatttctCgggtggggggcttgtagatg	13	11	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:205687461C>T	uc001hdb.2	-	7	939	c.679G>A	c.(679-681)GAG>AAG	p.E227K		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	227						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGATTTCTCGGGTGGGGGG	0.438													T	205687461	C	T	205687461	3	4	253	1	0	0	0	0	1	0	0	0	10720	893	31	1	56	1	NUCKS1	1	205687461	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	195111	205687461	43563160	84	125682											
PLXNA2	5362	broad.mit.edu	37	chr1	208391176	208391177	+	Frame_Shift_Ins	INS	-	-	G													ctgaggcatgccggctgctgINSggggggccagcagcacccag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:208391175_208391176T>TG	uc001hgz.3	-	1	850_851	c.92_93A>CA	c.(91-93)ccafs	p.P31fs	PLXNA2_uc001hha.4_Frame_Shift_Ins_p.P85fs	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	31					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)		TGCCGGCTGCTGGGGGGGCCAG	0.653													G	208391177	-	G	208391176	7	5	253	1	0	1	1	0	0	0	0	0	12120	1348	47	0	5716	0	PLXNA2	1	208391176	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	2703715	208391176	40859445	85	125683											
USH2A	7399	broad.mit.edu	37	chr1	215956110	215956110	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataggttttctccagtttaAgacaattgtatcttcaagat	6	6	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:215956110A>G	uc001hku.1	-	53	10942	c.10555T>C	c.(10555-10557)TTA>CTA	p.L3519L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3519	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCAGTTTAAGACAATTGTA	0.348										HNSCC(13;0.011)			G	215956110	A	G	215956110	2	3	253	1	0	0	0	0	0	0	0	1	17033	69	3	3		3	USH2A	1	215956110	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	7564934	215956110	33294511	86	125684											
ESRRG	2104	broad.mit.edu	37	chr1	216680306	216680306	+	Frame_Shift_Del	DEL	A	A	-													ccttggcctccaacatttccAaaaaaagtttgtgcattggg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:216680305_216680305CA>C	uc001hkw.2	-	6	1526	c.1353_1353TG>G	c.(1351-1353)ttgfs	p.L451fs	ESRRG_uc009xdp.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hky.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hkz.2_Frame_Shift_Del_p.L389fs|ESRRG_uc010puc.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hla.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hlb.2_Frame_Shift_Del_p.L428fs|ESRRG_uc010pud.2_Frame_Shift_Del_p.L266fs|ESRRG_uc021pja.1_Frame_Shift_Del_p.L200fs|ESRRG_uc001hlc.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hld.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hkx.2_Frame_Shift_Del_p.L463fs|ESRRG_uc009xdo.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hle.2_Frame_Shift_Del_p.L428fs|ESRRG_uc021piz.1_Frame_Shift_Del_p.L428fs	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	451					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)	CCAACATTTCCAAAAAAAGTT	0.458													-	216680306	A	-	216680306	7	5	253	1	0	1	0	1	0	0	0	0	5262	131	5	0	28	0	ESRRG	1	216680306	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	724196	216680306	32570315	87	125685											
MIA3	375056	broad.mit.edu	37	chr1	222802330	222802330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagatgaccaccctaacGcatccagagacagtgtggag	13	10	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:222802330G>A	uc001hnl.2	+	4	1777	c.1768G>A	c.(1768-1770)GCA>ACA	p.A590T	MIA3_uc009xea.1_Missense_Mutation_p.A426T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	590	Extracellular (Potential).				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			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		CCACCCTAACGCATCCAGAGA	0.483													A	222802330	G	A	222802330	3	1	253	1	0	0	0	0	1	0	0	0	9565	1087	38	1	1782	1	MIA3	1	222802330	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6122024	222802330	26448291	88	125686											
LIN9	286826	broad.mit.edu	37	chr1	226426763	226426763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattgttgcatatctccgcTgaaattcaatgctgatgggc	9	9	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:226426763T>C	uc001hqa.2	-	12	1512	c.1202A>G	c.(1201-1203)CAG>CGG	p.Q401R	LIN9_uc001hqb.2_Missense_Mutation_p.Q366R|LIN9_uc001hqc.2_Missense_Mutation_p.Q333R|LIN9_uc009xel.1_Missense_Mutation_p.Q366R	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	385	Potential.				cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATATCTCCGCTGAAATTCAAT	0.353													C	226426763	T	C	226426763	3	2	253	1	0	0	0	0	1	0	0	0	8813	1580	55	3	490	3	LIN9	1	226426763	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	3624433	226426763	22823858	89	125687											
OBSCN	84033	broad.mit.edu	37	chr1	228509303	228509303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcggctggagtgtgtcGtggccagcaaggcagatgtg	17	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:228509303G>A	uc009xez.1	+	55	14805	c.14761G>A	c.(14761-14763)GTG>ATG	p.V4921M	OBSCN_uc001hsn.2_Missense_Mutation_p.V4921M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4921	Ig-like 48.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGAGTGTGTCGTGGCCAGCAA	0.637													A	228509303	G	A	228509303	3	1	253	1	0	0	0	0	1	0	0	0	10812	1145	40	1	14975	1	OBSCN	1	228509303	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2082540	228509303	20741318	90	125688											
SIPA1L2	57568	broad.mit.edu	37	chr1	232561511	232561511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctcgtcagacagcgtgCggtaaagcgacctccttgga	12	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:232561511C>T	uc001hvg.2	-	16	4612	c.4454G>A	c.(4453-4455)CGC>CAC	p.R1485H	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R559H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1485					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGACAGCGTGCGGTAAAGCGA	0.542													T	232561511	C	T	232561511	3	4	253	1	0	0	0	0	1	0	0	0	14330	768	27	1	738	1	SIPA1L2	1	232561511	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4052208	232561511	16689110	91	125689											
PCNXL2	80003	broad.mit.edu	37	chr1	233136126	233136126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcaccctcgtccaccacGtgccgcagggtgagcagctc	12	17	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:233136126G>A	uc001hvl.2	-	30	5488	c.5253C>T	c.(5251-5253)CAC>CAT	p.H1751H	PCNXL2_uc001hvk.1_Silent_p.H403H|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1751						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CGTCCACCACGTGCCGCAGGG	0.607													A	233136126	G	A	233136126	2	1	253	1	0	0	0	0	0	0	0	1	11592	1136	40	1		1	PCNXL2	1	233136126	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	574615	233136126	16114495	92	125690											
CHRM3	1131	broad.mit.edu	37	chr1	240070882	240070882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcagctacaatgtttctcGagcagctggcaatttctcct	9	12	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:240070882G>A	uc001hyp.2	+	5	910	c.131G>A	c.(130-132)CGA>CAA	p.R44Q		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	44	Extracellular (By similarity).				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			ovary(4)|skin(1)	5	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)	AATGTTTCTCGAGCAGCTGGC	0.557													A	240070882	G	A	240070882	3	1	253	1	0	0	0	0	1	0	0	0	3378	1058	37	1	133	1	CHRM3	1	240070882	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6934756	240070882	9179739	93	125691											
ZNF496	84838	broad.mit.edu	37	chr1	247464040	247464040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcagtttggccttgccGttttccagcggctctttggg	12	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:247464040G>A	uc001ico.2	-	9	2010	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	ZNF496_uc009xgv.2_Silent_p.N551N|ZNF496_uc001icp.2_Silent_p.N515N	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	515					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			TGGCCTTGCCGTTTTCCAGCG	0.632													A	247464040	G	A	247464040	2	1	253	1	0	0	0	0	0	0	0	1	17942	1136	40	1		1	ZNF496	1	247464040	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7393158	247464040	1786581	94	125692											
ZNF692	55657	broad.mit.edu	37	chr1	249151581	249151582	+	Frame_Shift_Ins	INS	-	-	C													ctgagcactcccacacaagcINScccccatcttggccgccagg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr1:249151580_249151581G>GC	uc001ifc.2	-	3	538_539	c.327_328C>GC	c.(325-330)gggcttfs	p.G109fs	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Frame_Shift_Ins_p.G114fs|ZNF692_uc001iff.2_Frame_Shift_Ins_p.G109fs	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	109					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)			TCCCACACAAGCCCCCCATCTT	0.619													C	249151582	-	C	249151581	7	5	253	1	0	1	1	0	0	0	0	0	18094	726	26	0	1268	0	ZNF692	1	249151581	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1687541	249151581	99040	95	125693											
TPO	7173	broad.mit.edu	37	chr2	1481016	1481016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctcgttcctggacgcGtccaccgtgtatggcagctc	11	14	0	1	rs145985334	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:1481016G>A	uc002qww.2	+	8	1069	c.978G>A	c.(976-978)GCG>GCA	p.A326A	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.A326A|TPO_uc002qwr.2_Silent_p.A326A|TPO_uc002qwx.2_Silent_p.A326A|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Silent_p.A326A	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	326	Extracellular (Potential).		A -> T (in TDH2A).		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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	TCCTGGACGCGTCCACCGTGT	0.706													A	1481016	G	A	1481016	2	1	253	1	0	0	0	0	0	0	0	1	16407	1132	40	1		1	TPO	2	1481016	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		1481016	241718357	96	125694											
PXDN	7837	broad.mit.edu	37	chr2	1648403	1648403	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcacctgtccccatctcGcaggcgcttgaactgtgtgc	10	15	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:1648403G>A	uc002qxa.2	-	18	3794	c.3730C>T	c.(3730-3732)CGA>TGA	p.R1244*		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1244					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			pancreas(6)|ovary(2)	8	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)		TCCCCATCTCGCAGGCGCTTG	0.617													A	1648403	G	A	1648403	4	1	253	1	0	0	0	0	0	1	0	0	12847	1095	38	1	733	1	PXDN	2	1648403	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	167387	1648403	241550970	97	125695											
PXDN	7837	broad.mit.edu	37	chr2	1683982	1683982	+	Frame_Shift_Del	DEL	G	G	-													caccacagttcagctcttccGgggtgatggttgccactgag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:1683982delG	uc002qxa.2	-	7	777	c.713delC	c.(712-714)CCGfs	p.P238fs	PXDN_uc002qxb.1_Frame_Shift_Del_p.P238fs|PXDN_uc002qxc.1_Frame_Shift_Del_p.P55fs	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	238	LRRCT.				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			pancreas(6)|ovary(2)	8	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)		CAGCTCTTCCGGGGTGATGGT	0.438													-	1683982	G	-	1683982	7	5	253	1	0	1	0	1	0	0	0	0	12847	1116	39	0	3794	0	PXDN	2	1683982	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	35579	1683982	241515391	98	125696											
ADAM17	6868	broad.mit.edu	37	chr2	9630357	9630357	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgacgctgcagtttaaaGgaggcagccttttcacttct	9	10	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:9630357G>T	uc002qzu.2	-	19	2607	c.2424C>A	c.(2422-2424)TCC>TCA	p.S808S	IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Silent_p.S791S|ADAM17_uc010ewz.2_Silent_p.S151S	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	808	Cytoplasmic (Potential).				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GCAGTTTAAAGGAGGCAGCCT	0.443													T	9630357	G	T	9630357	2	4	253	1	0	0	0	0	0	0	0	1	238	987	35	5		5	ADAM17	2	9630357	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7946375	9630357	233569016	99	125697											
GREB1	9687	broad.mit.edu	37	chr2	11751001	11751001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgggctcatggtcctgCtgcgggtgccctgttcgccc	14	16	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:11751001C>T	uc002rbk.1	+	18	3154	c.2854C>T	c.(2854-2856)CTG>TTG	p.L952L	GREB1_uc002rbo.1_Silent_p.L586L|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	952						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATGGTCCTGCTGCGGGTGCC	0.667													T	11751001	C	T	11751001	2	4	253	1	0	0	0	0	0	0	0	1	6760	796	28	2		2	GREB1	2	11751001	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2120644	11751001	231448372	100	125698											
GREB1	9687	broad.mit.edu	37	chr2	11777870	11777870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactctgccgcggtcgtgcCggcccagtacatctgtgccc	11	16	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:11777870C>T	uc002rbk.1	+	31	5675	c.5375C>T	c.(5374-5376)CCG>CTG	p.P1792L	GREB1_uc002rbp.1_Missense_Mutation_p.P790L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1792						integral to membrane		p.P1792L(1)		ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCGGTCGTGCCGGCCCAGTAC	0.662													T	11777870	C	T	11777870	3	4	253	1	0	0	0	0	1	0	0	0	6760	652	23	1	5601	1	GREB1	2	11777870	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	26869	11777870	231421503	101	125699											
NBAS	51594	broad.mit.edu	37	chr2	15468434	15468434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgcaccaccacatttttgCccctaaaaagaaaaaaagta	4	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:15468434C>T	uc002rcc.1	-	37	4376	c.4350G>A	c.(4348-4350)GGG>GGA	p.G1450G	NBAS_uc010exl.1_Silent_p.G522G|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1450										ovary(2)|liver(1)|skin(1)	4						CACATTTTTGCCCCTaaaaag	0.209													T	15468434	C	T	15468434	2	4	253	1	0	0	0	0	0	0	0	1	10186	726	26	2		2	NBAS	2	15468434	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3690564	15468434	227730939	102	125700											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-													aatgttttccgcttctacagTttttttatcattctgtaact							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:17698737delT	uc002rcl.1	-	1	970	c.946delA	c.(946-948)ACTfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTTCTACAGTTTTTTTATCA	0.328													-	17698737	T	-	17698737	7	5	253	1	0	1	0	1	0	0	0	0	12987	1725	60	0	2545	0	RAD51AP2	2	17698737	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	2230303	17698737	225500636	103	125701											
SMC6	79677	broad.mit.edu	37	chr2	17877597	17877597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccagttctcgtttcttttTatttaaggtatccaagtgtt	6	7	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:17877597T>C	uc002rco.2	-	22	2787	c.2491A>G	c.(2491-2493)AAA>GAA	p.K831E	SMC6_uc010exo.2_Missense_Mutation_p.K831E|SMC6_uc002rcn.2_Missense_Mutation_p.K831E|SMC6_uc002rcp.1_Missense_Mutation_p.K857E	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	831	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGTTTCTTTTTATTTAAGGTA	0.318													C	17877597	T	C	17877597	3	2	253	1	0	0	0	0	1	0	0	0	14787	1763	61	3	812	3	SMC6	2	17877597	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	178860	17877597	225321776	104	125702											
MFSD2B	388931	broad.mit.edu	37	chr2	24246517	24246517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgggccaggcctggagAccatcttctactcctcctac	9	16	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:24246517A>G	uc002reo.1	+	12	1248	c.1234A>G	c.(1234-1236)ACC>GCC	p.T412A		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	412	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						AGGCCTGGAGACCATCTTCTA	0.612													G	24246517	A	G	24246517	3	3	253	1	0	0	0	0	1	0	0	0	9531	275	10	3	1280	3	MFSD2B	2	24246517	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	6368920	24246517	218952856	105	125703											
HADHB	3032	broad.mit.edu	37	chr2	26502949	26502949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcattcatcaagccctAcggcacagtgacagctgcaa	8	14	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:26502949A>G	uc002rgz.2	+	10	1150	c.899A>G	c.(898-900)TAC>TGC	p.Y300C	HADHB_uc010ykv.1_Missense_Mutation_p.Y278C|HADHB_uc010ykw.1_Missense_Mutation_p.Y285C|HADHB_uc002rha.2_Missense_Mutation_p.Y177C|HADHB_uc010ykx.1_Missense_Mutation_p.Y226C	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	300					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAAGCCCTACGGCACAGTG	0.383													G	26502949	A	G	26502949	3	3	253	1	0	0	0	0	1	0	0	0	6944	391	14	3	933	3	HADHB	2	26502949	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2256432	26502949	216696424	106	125704											
CIB4	130106	broad.mit.edu	37	chr2	26818155	26818156	+	Frame_Shift_Del	DEL	CT	CT	-													catgcctttgtgggagaacaCtctgcagatacggtctctga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:26818154_26818155ACT>A	uc002rhm.3	-	3	246_247	c.217_218AGT>T	c.(217-219)gtgfs	p.V73fs		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	73	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGAGAACACTCTGCAGATA	0.564													-	26818156	CT	-	26818155	7	5	253	1	0	1	0	1	0	0	0	0	3423	565	20	0	356	0	CIB4	2	26818155	Frame_Shift_Del	DEL	CT	TCGA-HJ-7597-01A-21D-2201-08	315206	26818155	216381218	107	125705											
KCNK3	3777	broad.mit.edu	37	chr2	26950776	26950776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgctgtgcatcggcgcCgccgccttctcccactacga	10	18	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:26950776C>T	uc002rhn.2	+	2	688	c.525C>T	c.(523-525)GCC>GCT	p.A175A		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175	Helical; (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCGGCGCCGCCGCCTTCT	0.637													T	26950776	C	T	26950776	2	4	253	1	0	0	0	0	0	0	0	1	8067	639	23	1		1	KCNK3	2	26950776	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	132621	26950776	216248597	108	125706											
AGBL5	60509	broad.mit.edu	37	chr2	27278901	27278902	+	Frame_Shift_Ins	INS	-	-	C													agtcagcccctgataccatcINSccccccaaagagagtggcgt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27278900_27278901T>TC	uc002rie.3	+	6	1476_1477	c.1259_1260T>TC	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Ins_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					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)					CCTGATACCATCCCCCCCAAAG	0.515													C	27278902	-	C	27278901	7	5	253	1	0	1	1	0	0	0	0	0	378	845	30	0	1282	0	AGBL5	2	27278901	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	328125	27278901	215920472	109	125707											
NRBP1	29959	broad.mit.edu	37	chr2	27663726	27663726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccccagcagccacaGcaggaggaggtgacatcacc	12	16	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27663726G>A	uc002rko.2	+	15	2080	c.1248G>A	c.(1246-1248)CAG>CAA	p.Q416Q	NRBP1_uc002rkq.2_Silent_p.Q415Q|NRBP1_uc002rkp.2_Silent_p.Q416Q|NRBP1_uc002rkr.2_Silent_p.Q207Q|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	416					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			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					AGCAGCCACAGCAGGAGGAGG	0.602													A	27663726	G	A	27663726	2	1	253	1	0	0	0	0	0	0	0	1	10642	962	34	2		2	NRBP1	2	27663726	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	384825	27663726	215535647	110	125708											
NRBP1	29959	broad.mit.edu	37	chr2	27664014	27664014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctgatgcagtgcaaCattgagtcggtggaggaggg	19	5	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27664014C>T	uc002rko.2	+	16	2182	c.1350C>T	c.(1348-1350)AAC>AAT	p.N450N	NRBP1_uc002rkq.2_Silent_p.N449N|NRBP1_uc002rkp.2_Silent_p.N450N|NRBP1_uc002rkr.2_Silent_p.N241N|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	450					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			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGCAGTGCAACATTGAGTCGG	0.532													T	27664014	C	T	27664014	2	4	253	1	0	0	0	0	0	0	0	1	10642	477	17	4		4	NRBP1	2	27664014	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	288	27664014	215535359	111	125709											
IFT172	26160	broad.mit.edu	37	chr2	27688653	27688653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggctgttccaaactcgaTgaggccctcatccaatgtgt	9	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:27688653T>C	uc002rku.2	-	17	1840	c.1789A>G	c.(1789-1791)ATC>GTC	p.I597V		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	597	TPR 1.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCAAACTCGATGAGGCCCTCA	0.547													C	27688653	T	C	27688653	3	2	253	1	0	0	0	0	1	0	0	0	7557	1464	51	3	3588	3	IFT172	2	27688653	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	24639	27688653	215510720	112	125710											
CRIM1	51232	broad.mit.edu	37	chr2	36668566	36668566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgcaaagtctgccagcCgggaaacctgaacatactag	10	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:36668566C>T	uc002rpd.2	+	3	710	c.671C>T	c.(670-672)CCG>CTG	p.P224L		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	224	Extracellular (Potential).				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			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTCTGCCAGCCGGGAAACCTG	0.577													T	36668566	C	T	36668566	3	4	253	1	0	0	0	0	1	0	0	0	3873	652	23	1	681	1	CRIM1	2	36668566	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8979913	36668566	206530807	113	125711											
EIF2AK2	5610	broad.mit.edu	37	chr2	37353552	37353552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttaaaatccatgccaAaccttaaagataaaaaccac	2	10	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:37353552A>G	uc010ynh.1	-	11	1345	c.788T>C	c.(787-789)TTT>TCT	p.F263S	EIF2AK2_uc010fab.1_Intron|EIF2AK2_uc010yng.1_Missense_Mutation_p.F263S|EIF2AK2_uc010fac.2_Missense_Mutation_p.F263S|EIF2AK2_uc010fad.2_Missense_Mutation_p.F263S	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	263				Missing: Loss of activity.	evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				ATCCATGCCAAACCTTAAAGA	0.393													G	37353552	A	G	37353552	3	3	253	1	0	0	0	0	1	0	0	0	4997	14	1	3	895	3	EIF2AK2	2	37353552	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	684986	37353552	205845821	114	125712											
TTC7A	57217	broad.mit.edu	37	chr2	47278950	47278950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcagagctgactatgCcctcttcggtcctgaagcag	10	13	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:47278950C>T	uc002rvo.2	+	18	2451	c.2083C>T	c.(2083-2085)CCC>TCC	p.P695S	TTC7A_uc002rvm.2_Missense_Mutation_p.P661S|TTC7A_uc010fbb.2_Missense_Mutation_p.P719S|TTC7A_uc010fbc.2_Missense_Mutation_p.P341S|TTC7A_uc002rvp.2_Missense_Mutation_p.P576S|TTC7A_uc002rvq.2_Missense_Mutation_p.P435S|TTC7A_uc002rvr.2_Missense_Mutation_p.P144S	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	695							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTGACTATGCCCTCTTCGGT	0.657													T	47278950	C	T	47278950	3	4	253	1	0	0	0	0	1	0	0	0	16709	739	26	2	2153	2	TTC7A	2	47278950	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	9925398	47278950	195920423	115	125713											
BCL11A	53335	broad.mit.edu	37	chr2	60688523	60688523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccgtagtccaccctctcGctctccgtcagctcctcctc	6	20	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:60688523G>A	uc002sae.1	-	4	1752	c.1524C>T	c.(1522-1524)AGC>AGT	p.S508S	BCL11A_uc002sab.2_Silent_p.S508S|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.S177S|BCL11A_uc010ypj.1_Silent_p.S474S|BCL11A_uc002sad.1_Silent_p.S356S|BCL11A_uc002saf.1_Silent_p.S474S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	508	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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACCCTCTCGCTCTCCGTCA	0.463			T	IGH@	B-CLL								A	60688523	G	A	60688523	2	1	253	1	0	0	0	0	0	0	0	1	1363	1078	38	1		1	BCL11A	2	60688523	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	13409573	60688523	182510850	116	125714											
WBP1	23559	broad.mit.edu	37	chr2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C													tcaccgcccaggcacaccacINScccccccttatactgtggcc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584													C	74687411	-	C	74687410	7	5	253	1	0	1	1	0	0	0	0	0	17254	507	18	0	426	0	WBP1	2	74687410	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	13998887	74687410	168511963	117	125715											
CTNNA2	1496	broad.mit.edu	37	chr2	80136848	80136848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcacgcgagacgaccgGcgcgagaggatcgtggcgga	17	12	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:80136848G>A	uc010ysh.1	+	6	986	c.981G>A	c.(979-981)CGG>CGA	p.R327R	CTNNA2_uc010yse.1_Silent_p.R327R|CTNNA2_uc010ysf.1_Silent_p.R327R|CTNNA2_uc010ysg.1_Silent_p.R327R	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	327					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GAGACGACCGGCGCGAGAGGA	0.637													A	80136848	G	A	80136848	2	1	253	1	0	0	0	0	0	0	0	1	4013	1190	42	2		2	CTNNA2	2	80136848	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5449438	80136848	163062525	118	125716											
POLR1A	25885	broad.mit.edu	37	chr2	86305045	86305045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgactgagcgcgcagcGtagtccactcgctttcccat	10	14	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:86305045G>A	uc002sqs.2	-	11	1696	c.1317C>T	c.(1315-1317)TAC>TAT	p.Y439Y		NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	439				YA -> ST (in Ref. 1; AAC99959).	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			ovary(2)|skin(1)	3						AGCGCGCAGCGTAGTCCACTC	0.358													A	86305045	G	A	86305045	2	1	253	1	0	0	0	0	0	0	0	1	12209	1140	40	1		1	POLR1A	2	86305045	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6168197	86305045	156894328	119	125717											
ZAP70	7535	broad.mit.edu	37	chr2	98351799	98351799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgcgaggcgcagatcaTgcaccagctggacaacccct	12	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:98351799T>C	uc002syd.1	+	10	1376	c.1169T>C	c.(1168-1170)ATG>ACG	p.M390T	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.M280T|ZAP70_uc002syf.1_Missense_Mutation_p.M83T	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	390	Protein kinase.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GCGCAGATCATGCACCAGCTG	0.652													C	98351799	T	C	98351799	3	2	253	1	0	0	0	0	1	0	0	0	17511	1464	51	3	1199	3	ZAP70	2	98351799	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	12046754	98351799	144847574	120	125718											
POU3F3	5455	broad.mit.edu	37	chr2	105472966	105472966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagttcaagcagcggcGcatcaagctgggcttcacgc	12	13	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:105472966G>A	uc010ywg.1	+	1	998	c.998G>A	c.(997-999)CGC>CAC	p.R333H		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	333	POU-specific.				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			ovary(1)	1						AAGCAGCGGCGCATCAAGCTG	0.652													A	105472966	G	A	105472966	3	1	253	1	0	0	0	0	1	0	0	0	12276	1087	38	1	1000	1	POU3F3	2	105472966	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7121167	105472966	137726407	121	125719											
IL1F6	27179	broad.mit.edu	37	chr2	113765559	113765559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaggctgtcctctcAtccttacccaagaactgggg	11	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:113765559A>G	uc010yxr.1	+	4	415	c.415A>G	c.(415-417)ATC>GTC	p.I139V		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	interleukin 1 family, member 6 (epsilon)	139					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding				0						CTGTCCTCTCATCCTTACCCA	0.512													G	113765559	A	G	113765559	3	3	253	1	0	0	0	0	1	0	0	0	7654	217	8	3	429	3	IL1F6	2	113765559	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	8292593	113765559	129433814	122	125720											
RIF1	55183	broad.mit.edu	37	chr2	152301934	152301934	+	Frame_Shift_Del	DEL	T	T	-													gactttaccagtaaaccacaTtttttcagaacagagatttc					rs150866594		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:152301933_152301933AT>A	uc002txm.3	+	18	2229	c.2068_2068AT>A	c.(2068-2070)attfs	p.I690fs	RIF1_uc010fnv.2_Frame_Shift_Del_p.I654fs|RIF1_uc002txn.3_Frame_Shift_Del_p.I690fs|RIF1_uc002txl.3_Frame_Shift_Del_p.I690fs|RIF1_uc002txo.3_Frame_Shift_Del_p.I690fs	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	690					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)		AGTAAACCACATTTTTTCAGA	0.313													-	152301934	T	-	152301934	7	5	253	1	0	1	0	1	0	0	0	0	13359	1493	52	0	2139	0	RIF1	2	152301934	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	38536375	152301934	90897439	123	125721											
PRPF40A	55660	broad.mit.edu	37	chr2	153519623	153519623	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaatgcagattcttttcGtttcatcttccgagcctctt	5	11	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:153519623G>A	uc002tyh.3	-	20	2174	c.2152C>T	c.(2152-2154)CGA>TGA	p.R718*	PRPF40A_uc002tyg.3_Nonsense_Mutation_p.R174*|PRPF40A_uc010zcd.1_Nonsense_Mutation_p.R669*	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	745	FF 5.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						GATTCTTTTCGTTTCATCTTC	0.338													A	153519623	G	A	153519623	4	1	253	1	0	0	0	0	0	1	0	0	12571	1153	40	1	668	1	PRPF40A	2	153519623	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1217689	153519623	89679750	124	125722											
TANC1	85461	broad.mit.edu	37	chr2	160035383	160035383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagctctatttgcttcAgtgcaacatgaagttcatga	8	9	4	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:160035383A>G	uc002uag.2	+	14	2493	c.2219A>G	c.(2218-2220)CAG>CGG	p.Q740R	TANC1_uc010fol.1_Missense_Mutation_p.Q634R|TANC1_uc010zcm.1_Missense_Mutation_p.Q732R|TANC1_uc010fom.1_Missense_Mutation_p.Q546R|TANC1_uc002uai.1_RNA	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	740						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TATTTGCTTCAGTGCAACATG	0.552													G	160035383	A	G	160035383	3	3	253	1	0	0	0	0	1	0	0	0	15541	188	7	3	2265	3	TANC1	2	160035383	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	6515760	160035383	83163990	125	125723											
IFIH1	64135	broad.mit.edu	37	chr2	163128888	163128888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctcatcagctctggctcGaccacgggcctgaaaacaca	9	15	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:163128888G>A	uc002uce.2	-	13	2686	c.2464C>T	c.(2464-2466)CGA>TGA	p.R822*		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	822	Helicase C-terminal.				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			ovary(1)	1						GCTCTGGCTCGACCACGGGCC	0.428													A	163128888	G	A	163128888	4	1	253	1	0	0	0	0	0	1	0	0	7520	1066	37	1	629	1	IFIH1	2	163128888	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3093505	163128888	80070485	126	125724											
FIGN	55137	broad.mit.edu	37	chr2	164466291	164466291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagaaaagccttctgtgCgctggacgagcagtgcaaac	12	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:164466291C>T	uc002uck.1	-	3	2362	c.2051G>A	c.(2050-2052)CGC>CAC	p.R684H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	684						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GCCTTCTGTGCGCTGGACGAG	0.522													T	164466291	C	T	164466291	3	4	253	1	0	0	0	0	1	0	0	0	5891	768	27	1	232	1	FIGN	2	164466291	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1337403	164466291	78733082	127	125725											
DYNC1I2	1781	broad.mit.edu	37	chr2	172563873	172563873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaagactctggagatggCgccgtgggatctaggtacag	15	9	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:172563873C>T	uc002uha.1	+	5	486	c.321C>T	c.(319-321)GGC>GGT	p.G107G	DYNC1I2_uc002uhc.2_Silent_p.G101G|DYNC1I2_uc002uhb.1_Silent_p.G101G|DYNC1I2_uc010zds.1_Silent_p.G119G|DYNC1I2_uc002uhd.1_Silent_p.G101G|DYNC1I2_uc002uhe.1_Silent_p.G107G|DYNC1I2_uc002uhf.1_Silent_p.G101G|DYNC1I2_uc010zdt.1_Silent_p.G119G|DYNC1I2_uc002uhg.1_Silent_p.G22G	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	107					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CTGGAGATGGCGCCGTGGGAT	0.413													T	172563873	C	T	172563873	2	4	253	1	0	0	0	0	0	0	0	1	4843	755	27	1		1	DYNC1I2	2	172563873	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8097582	172563873	70635500	128	125726											
SLC25A12	8604	broad.mit.edu	37	chr2	172647993	172647993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcaagaagatttaaaCctcccacgtgtccattttca	6	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:172647993C>T	uc002uhh.2	-	15	1642	c.1553G>A	c.(1552-1554)GGT>GAT	p.G518D	SLC25A12_uc010fqh.2_Missense_Mutation_p.G411D	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	518	Solcar 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAGATTTAAACCTCCCACGTG	0.378													T	172647993	C	T	172647993	3	4	253	1	0	0	0	0	1	0	0	0	14474	507	18	4	499	4	SLC25A12	2	172647993	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	84120	172647993	70551380	129	125727											
TTN	7273	broad.mit.edu	37	chr2	179440987	179440987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagggcggttcctgtgGtatcttttatccaggcctcg	12	10	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:179440987G>A	uc010zfg.1	-	275	62392	c.62168C>T	c.(62167-62169)ACC>ATC	p.T20723I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T14418I|TTN_uc010zfi.1_Missense_Mutation_p.T14351I|TTN_uc010zfj.1_Missense_Mutation_p.T14226I|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21650							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCCTGTGGTATCTTTTAT	0.453													A	179440987	G	A	179440987	3	1	253	1	0	0	0	0	1	0	0	0	16732	1261	44	4	38255	4	TTN	2	179440987	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6792994	179440987	63758386	130	125728											
MFSD6	54842	broad.mit.edu	37	chr2	191302246	191302246	+	Frame_Shift_Del	DEL	T	T	-													gtgtctgagctgacagcataTttttttagtcacaagcttat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:191302245_191302245AT>A	uc002urz.2	+	2	1814	c.1490_1490AT>A	c.(1489-1491)tatfs	p.Y497fs		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	497					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						CTGACAGCATATTTTTTTAGT	0.423													-	191302246	T	-	191302246	7	5	253	1	0	1	0	1	0	0	0	0	9535	1500	52	0	1493	0	MFSD6	2	191302246	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	11861259	191302246	51897127	131	125729											
DNAH7	56171	broad.mit.edu	37	chr2	196822106	196822106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctccagatacagccacGtggcttggactttgagccat	12	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:196822106G>A	uc002utj.3	-	19	3058	c.2957C>T	c.(2956-2958)ACG>ATG	p.T986M		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	986	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATACAGCCACGTGGCTTGGAC	0.493													A	196822106	G	A	196822106	3	1	253	1	0	0	0	0	1	0	0	0	4606	1145	40	1	9305	1	DNAH7	2	196822106	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5519860	196822106	46377267	132	125730											
CDK15	65061	broad.mit.edu	37	chr2	202671472	202671472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcgaggcacacagctgtCggaggagtcagcctgagacc	16	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:202671472C>T	uc002uyt.2	+	1	134	c.85C>T	c.(85-87)CGG>TGG	p.R29W	CDK15_uc010ftm.2_Intron|CDK15_uc002uys.2_Intron|CDK15_uc010ftn.1_Intron|CDK15_uc010fto.1_Missense_Mutation_p.R29W	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	29							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	ACACAGCTGTCGGAGGAGTCA	0.507													T	202671472	C	T	202671472	3	4	253	1	0	0	0	0	1	0	0	0	3131	899	31	1		1	CDK15	2	202671472	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5849366	202671472	40527901	133	125731											
ADAM23	8745	broad.mit.edu	37	chr2	207413068	207413068	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggttgaaaagaaggaagaGagcagtgaatgtgagtgtgg	18	1	0	5			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:207413068G>T	uc002vbq.2	+	8	1080	c.857G>T	c.(856-858)AGA>ATA	p.R286I	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	286					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGAAGGAAGAGAGCAGTGAAT	0.413													T	207413068	G	T	207413068	3	4	253	1	0	0	0	0	1	0	0	0	245	942	33	5	887	5	ADAM23	2	207413068	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4741596	207413068	35786305	134	125732											
ADAM23	8745	broad.mit.edu	37	chr2	207459518	207459518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatgtagaagatggaacGccatgtggcccgtctatgat	13	8	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:207459518G>A	uc002vbq.2	+	23	2359	c.2136G>A	c.(2134-2136)ACG>ACA	p.T712T	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	712	Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AAGATGGAACGCCATGTGGCC	0.428													A	207459518	G	A	207459518	2	1	253	1	0	0	0	0	0	0	0	1	245	1074	38	1		1	ADAM23	2	207459518	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	46450	207459518	35739855	135	125733											
ABCA12	26154	broad.mit.edu	37	chr2	215809791	215809791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgatcttccagaggtgcCgtttcgacttcggatccatg	10	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:215809791C>T	uc002vew.2	-	49	7497	c.7277G>A	c.(7276-7278)CGG>CAG	p.R2426Q	ABCA12_uc002vev.2_Missense_Mutation_p.R2108Q|ABCA12_uc010zjn.1_Missense_Mutation_p.R1353Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2426	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		CCAGAGGTGCCGTTTCGACTT	0.373													T	215809791	C	T	215809791	3	4	253	1	0	0	0	0	1	0	0	0	30	652	23	1	530	1	ABCA12	2	215809791	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8350273	215809791	27389582	136	125734											
ABCA12	26154	broad.mit.edu	37	chr2	215914482	215914482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaatgtatcctgaataGctgtcacatagttctcttcg	6	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:215914482G>A	uc002vew.2	-	6	781	c.561C>T	c.(559-561)AGC>AGT	p.S187S	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	187					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		ATCCTGAATAGCTGTCACATA	0.328													A	215914482	G	A	215914482	2	1	253	1	0	0	0	0	0	0	0	1	30	962	34	2		2	ABCA12	2	215914482	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	104691	215914482	27284891	137	125735											
ZNF142	7701	broad.mit.edu	37	chr2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-													gttttcctcccccgccacgtCcccccctgcagccttcagcc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:219508083_219508083TC>T	uc002vin.3	-	7	3592	c.3156_3156GA>A	c.(3154-3156)ggafs	p.G1052fs	ZNF142_uc002vil.3_Frame_Shift_Del_p.G1013fs|ZNF142_uc010fvt.3_Frame_Shift_Del_p.G889fs|ZNF142_uc002vim.3_Frame_Shift_Del_p.G889fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CCCCGCCACGTCCCCCCCTGC	0.602													-	219508084	C	-	219508084	7	5	253	1	0	1	0	1	0	0	0	0	17728	855	30	0	1920	0	ZNF142	2	219508084	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	3593602	219508084	23691289	138	125736											
IHH	3549	broad.mit.edu	37	chr2	219920419	219920419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagcctgtgaggctcgCggtccaggaaaatgagcaca	12	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:219920419C>T	uc002vjo.1	-	3	746	c.746G>A	c.(745-747)CGC>CAC	p.R249H		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	249					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		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)		GTGAGGCTCGCGGTCCAGGAA	0.647													T	219920419	C	T	219920419	3	4	253	1	0	0	0	0	1	0	0	0	7607	768	27	1	493	1	IHH	2	219920419	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	412335	219920419	23278954	139	125737											
KIAA1486	57624	broad.mit.edu	37	chr2	226447162	226447162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtatttccccccgccccCgtgcattgctcccccaactc	6	21	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:226447162C>T	uc002voe.2	+	4	1204	c.1029C>T	c.(1027-1029)CCC>CCT	p.P343P	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.P113P	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	343	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCCCCGCCCCCGTGCATTGCT	0.632													T	226447162	C	T	226447162	2	4	253	1	0	0	0	0	0	0	0	1	8237	639	23	1		1	KIAA1486	2	226447162	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6526743	226447162	16752211	140	125738											
IRS1	3667	broad.mit.edu	37	chr2	227662789	227662791	+	In_Frame_Del	DEL	GAA	GAA	-													gcagaacggcccacctcgatGaagaagaagttttccgagtg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:227662789_227662791delGAA	uc002voh.3	-	1	716_718	c.664_666delTTC	c.(664-666)TTCdel	p.F222del		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	222	IRS-type PTB.				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		CCACCTCGATGAAGAAGAAGTTT	0.606											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	227662791	GAA	-	227662789	7	5	253	1	0	1	0	1	0	0	0	0	7840	1281	45	0	3066	0	IRS1	2	227662789	In_Frame_Del	DEL	GAA	TCGA-HJ-7597-01A-21D-2201-08	1215627	227662789	15536584	141	125739											
SP140	11262	broad.mit.edu	37	chr2	231150516	231150516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgaaaagaaggcgaaCgtgaatctgaaagacctttc	10	8	1	5			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:231150516C>T	uc002vql.2	+	17	1729	c.1614C>T	c.(1612-1614)AAC>AAT	p.N538N	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.N424N|SP140_uc002vqm.2_Silent_p.N478N|SP140_uc010fxl.2_Silent_p.N511N	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	538					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		AGAAGGCGAACGTGAATCTGA	0.448													T	231150516	C	T	231150516	2	4	253	1	0	0	0	0	0	0	0	1	14962	535	19	1		1	SP140	2	231150516	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3487727	231150516	12048857	142	125740											
GPR55	9290	broad.mit.edu	37	chr2	231775308	231775308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccagtagcgggtaacGgatggccaagaaccggtcca	13	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:231775308G>A	uc002vrg.2	-	2	563	c.370C>T	c.(370-372)CGT>TGT	p.R124C	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.R124C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	124	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGCGGGTAACGGATGGCCAAG	0.582													A	231775308	G	A	231775308	3	1	253	1	0	0	0	0	1	0	0	0	6699	1116	39	1	593	1	GPR55	2	231775308	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	624792	231775308	11424065	143	125741											
ARL4C	10123	broad.mit.edu	37	chr2	235405084	235405084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcagcttgatcttctcGgtgttgaagccgatggtggg	14	8	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:235405084G>A	uc002vvn.2	-	1	610	c.147C>T	c.(145-147)ACC>ACT	p.T49T	ARL4C_uc002vvm.3_Silent_p.T49T	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	49					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		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)		TGATCTTCTCGGTGTTGAAGC	0.612													A	235405084	G	A	235405084	2	1	253	1	0	0	0	0	0	0	0	1	937	1103	39	1		1	ARL4C	2	235405084	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3629776	235405084	7794289	144	125742											
COL6A3	1293	broad.mit.edu	37	chr2	238280505	238280505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccgagaacacatattcGgggctcagcgagatcttcac	9	13	4	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:238280505G>A	uc002vwl.2	-	9	4440	c.4155C>T	c.(4153-4155)CCC>CCT	p.P1385P	COL6A3_uc002vwo.2_Silent_p.P1179P|COL6A3_uc010znj.1_Silent_p.P778P|COL6A3_uc002vwq.2_Silent_p.P1179P|COL6A3_uc002vwr.2_Silent_p.P978P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1385	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		ACACATATTCGGGGCTCAGCG	0.617													A	238280505	G	A	238280505	2	1	253	1	0	0	0	0	0	0	0	1	3701	1103	39	1		1	COL6A3	2	238280505	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2875421	238280505	4918868	145	125743											
ESPNL	339768	broad.mit.edu	37	chr2	239040289	239040289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcagggcagcttcaaCggtgaggacatctgcggcta	13	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:239040289C>T	uc002vxq.3	+	9	3044	c.2934C>T	c.(2932-2934)AAC>AAT	p.N978N	ESPNL_uc010fyw.2_Silent_p.N674N	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	978										pancreas(1)	1		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)		GCAGCTTCAACGGTGAGGACA	0.637													T	239040289	C	T	239040289	2	4	253	1	0	0	0	0	0	0	0	1	5255	535	19	1		1	ESPNL	2	239040289	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	759784	239040289	4159084	146	125744											
HDAC4	9759	broad.mit.edu	37	chr2	240085512	240085512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttacccgtaccagtagcGagggtcgctggaaatgcagt	12	11	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:240085512G>A	uc002vyk.3	-	6	1390	c.598C>T	c.(598-600)CGC>TGC	p.R200C	HDAC4_uc010fyz.1_Missense_Mutation_p.R195C|HDAC4_uc010zoa.1_Missense_Mutation_p.R195C|HDAC4_uc010fza.2_Missense_Mutation_p.R200C|HDAC4_uc010fyy.2_Missense_Mutation_p.R152C|HDAC4_uc010znz.1_Missense_Mutation_p.R83C	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	200	Interaction with MEF2A.				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			breast(3)|skin(2)|ovary(1)	6		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)		TACCAGTAGCGAGGGTCGCTG	0.567													A	240085512	G	A	240085512	3	1	253	1	0	0	0	0	1	0	0	0	7009	1058	37	1	2744	1	HDAC4	2	240085512	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1045223	240085512	3113861	147	125745											
GPR35	2859	broad.mit.edu	37	chr2	241570285	241570285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaggactctctgtgcGtgaccctcgcctaagaggcg	12	13	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:241570285G>A	uc002vzs.1	+	1	1491	c.916G>A	c.(916-918)GTG>ATG	p.V306M	GPR35_uc010fzh.1_Missense_Mutation_p.V337M|GPR35_uc010fzi.1_Missense_Mutation_p.V337M	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	306	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		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)		CTCTCTGTGCGTGACCCTCGC	0.642													A	241570285	G	A	241570285	3	1	253	1	0	0	0	0	1	0	0	0	6690	1145	40	1	918	1	GPR35	2	241570285	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1484773	241570285	1629088	148	125746											
PASK	23178	broad.mit.edu	37	chr2	242080005	242080005	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggggccggaagcagaggTgaggaccaccctgaggacag	17	10	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr2:242080005T>C	uc002wao.1	-	3	452	c.360A>G	c.(358-360)TCA>TCG	p.S120S	PASK_uc010zol.1_Intron|PASK_uc010zom.1_Silent_p.S120S|PASK_uc010fzl.1_Silent_p.S120S|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Silent_p.S120S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	120	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		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)		GAAGCAGAGGTGAGGACCACC	0.612													C	242080005	T	C	242080005	2	2	253	1	0	0	0	0	0	0	0	1	11472	1683	59	3		3	PASK	2	242080005	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	509720	242080005	1119368	149	125747											
AZI2	64343	broad.mit.edu	37	chr3	28382055	28382055	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcactgtatctctcttAtgggctttttcatgattcag	9	8	5	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:28382055A>G	uc003ceb.2	-	2	586	c.54T>C	c.(52-54)CAT>CAC	p.H18H	AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.H18H|AZI2_uc003cee.3_Silent_p.H18H|AZI2_uc003ceg.2_Silent_p.H18H|AZI2_uc011axd.1_Silent_p.H18H|AZI2_uc003cef.2_Silent_p.H18H	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	18						mitochondrion|plasma membrane				ovary(2)	2						TATCTCTCTTATGGGCTTTTT	0.358													G	28382055	A	G	28382055	2	3	253	1	0	0	0	0	0	0	0	1	1241	446	16	3		3	AZI2	3	28382055	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08		28382055	169640375	150	125748											
VILL	50853	broad.mit.edu	37	chr3	38039623	38039623	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtggtcctggagttggcGacccccccactgacccagga	13	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:38039623G>A	uc003chj.2	+	8	1093	c.807G>A	c.(805-807)GCG>GCA	p.A269A	VILL_uc003chk.1_Silent_p.A269A|VILL_uc003chl.2_Silent_p.A269A|VILL_uc010hgu.2_Silent_p.A99A	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	269	Gelsolin-like 3.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGTTGGCGACCCCCCCAC	0.637													A	38039623	G	A	38039623	2	1	253	1	0	0	0	0	0	0	0	1	17162	1045	37	1		1	VILL	3	38039623	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	9657568	38039623	159982807	151	125749											
DLEC1	9940	broad.mit.edu	37	chr3	38159361	38159361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactacagagatcccacactActtccggcttatggtctcca	6	15	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:38159361A>G	uc003cho.1	+	33	4571	c.4550A>G	c.(4549-4551)TAC>TGC	p.Y1517C	DLEC1_uc003chp.1_Missense_Mutation_p.Y1517C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y1520C|DLEC1_uc003chr.1_Missense_Mutation_p.Y588C|DLEC1_uc003chs.1_Missense_Mutation_p.Y74C	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1517					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATCCCACACTACTTCCGGCTT	0.597											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	38159361	A	G	38159361	3	3	253	1	0	0	0	0	1	0	0	0	4552	391	14	3	4680	3	DLEC1	3	38159361	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	119738	38159361	159863069	152	125750											
DLEC1	9940	broad.mit.edu	37	chr3	38163206	38163206	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgctttgtgagccagCagcgagtccgggaggtctac	15	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:38163206C>T	uc003cho.1	+	35	4975	c.4954C>T	c.(4954-4956)CAG>TAG	p.Q1652*	DLEC1_uc003chp.1_Nonsense_Mutation_p.Q1652*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.Q1655*|DLEC1_uc003chr.1_Nonsense_Mutation_p.Q723*|DLEC1_uc003chs.1_Nonsense_Mutation_p.Q209*	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1652					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGTGAGCCAGCAGCGAGTCCG	0.632													T	38163206	C	T	38163206	4	4	253	1	0	0	0	0	0	1	0	0	4552	711	25	2	5092	2	DLEC1	3	38163206	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3845	38163206	159859224	153	125751											
XIRP1	165904	broad.mit.edu	37	chr3	39227496	39227496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggtcaaaggtcctcacGggatgagcggtgtagatgcc	17	8	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:39227496G>A	uc003cjk.1	-	2	3662	c.3441C>T	c.(3439-3441)CCC>CCT	p.P1147P	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1147							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGTCCTCACGGGATGAGCGG	0.622													A	39227496	G	A	39227496	2	1	253	1	0	0	0	0	0	0	0	1	17426	1103	39	1		1	XIRP1	3	39227496	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1064290	39227496	158794934	154	125752											
TRAK1	22906	broad.mit.edu	37	chr3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-													cctgtccagctgcgtcagcaCcccccggtccagcttctacg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:42242449_42242449AC>A	uc003cky.3	+	11	1546	c.1330_1330AC>A	c.(1330-1332)accfs	p.T444fs	TRAK1_uc011azh.2_Frame_Shift_Del_p.T444fs|TRAK1_uc011azi.2_Frame_Shift_Del_p.T444fs|TRAK1_uc003ckz.4_Frame_Shift_Del_p.T370fs|TRAK1_uc011azj.2_Frame_Shift_Del_p.T370fs|TRAK1_uc003cla.3_Frame_Shift_Del_p.T386fs	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	444	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCGTCAGCACCCCCCGGTC	0.597													-	42242450	C	-	42242450	7	5	253	1	0	1	0	1	0	0	0	0	16446	507	18	0	1493	0	TRAK1	3	42242450	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	3014954	42242450	155779980	155	125753											
KLHL18	23276	broad.mit.edu	37	chr3	47378111	47378111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacagcccgcagccgcGttggcgtggctgtggtgaac	15	12	0	2	rs149811108		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:47378111G>A	uc003crd.2	+	7	1111	c.985G>A	c.(985-987)GTT>ATT	p.V329I	KLHL18_uc003crc.2_Missense_Mutation_p.V329I|KLHL18_uc011bav.1_Missense_Mutation_p.V217I|KLHL18_uc010hjq.1_Missense_Mutation_p.V185I	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	329	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCGCAGCCGCGTTGGCGTGGC	0.567													A	47378111	G	A	47378111	3	1	253	1	0	0	0	0	1	0	0	0	8373	1145	40	1	1011	1	KLHL18	3	47378111	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5135661	47378111	150644319	156	125754											
CELSR3	1951	broad.mit.edu	37	chr3	48698477	48698477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctagcacagttatgtgtaCgcgcacagtggccgagcgcg	14	11	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:48698477C>T	uc003cul.2	-	1	1872	c.1591G>A	c.(1591-1593)GTA>ATA	p.V531I	CELSR3_uc003cuf.1_Missense_Mutation_p.V601I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	531	Extracellular (Potential).|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			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTATGTGTACGCGCACAGTG	0.642													T	48698477	C	T	48698477	3	4	253	1	0	0	0	0	1	0	0	0	3223	536	19	1	8487	1	CELSR3	3	48698477	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1320366	48698477	149323953	157	125755											
ARIH2	10425	broad.mit.edu	37	chr3	49008080	49008080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgccccatggttattcGggtacaggagcctagagctc	12	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:49008080G>A	uc003cvb.2	+	8	1025	c.713G>A	c.(712-714)CGG>CAG	p.R238Q	ARIH2_uc003cvc.2_Missense_Mutation_p.R238Q|ARIH2_uc003cvf.2_Missense_Mutation_p.R156Q|ARIH2_uc010hkl.2_Missense_Mutation_p.R238Q	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	238	IBR-type.				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ATGGTTATTCGGGTACAGGAG	0.547													A	49008080	G	A	49008080	3	1	253	1	0	0	0	0	1	0	0	0	924	1116	39	1	735	1	ARIH2	3	49008080	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	309603	49008080	149014350	158	125756											
KLHDC8B	200942	broad.mit.edu	37	chr3	49212566	49212566	+	Frame_Shift_Del	DEL	G	G	-													actttgtggttgggtcccttGggggccacattgtggccatt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:49212565_49212565TG>T	uc003cwh.3	+	4	1072	c.837_837TG>T	c.(835-837)cttfs	p.L279fs	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	279						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)		TTGGGTCCCTTGGGGGCCACA	0.597													-	49212566	G	-	49212566	7	5	253	1	0	1	0	1	0	0	0	0	8363	1348	47	0	852	0	KLHDC8B	3	49212566	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	204486	49212566	148809864	159	125757											
BSN	8927	broad.mit.edu	37	chr3	49690307	49690307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaggatgcctccccgacGgaggagctgaggcaggcggc	17	12	0	1	rs139466364		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:49690307G>A	uc003cxe.3	+	5	3432	c.3318G>A	c.(3316-3318)ACG>ACA	p.T1106T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1106					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCCCCGACGGAGGAGCTGA	0.647													A	49690307	G	A	49690307	2	1	253	1	0	0	0	0	0	0	0	1	1530	1103	39	1		1	BSN	3	49690307	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	477741	49690307	148332123	160	125758											
RAD54L2	23132	broad.mit.edu	37	chr3	51690036	51690036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggccagtgttcgtcctGtgcagtccacccccatcccc	9	18	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:51690036G>A	uc011bdt.1	+	19	3201	c.3076G>A	c.(3076-3078)GTG>ATG	p.V1026M	RAD54L2_uc003dbh.2_Missense_Mutation_p.V615M|RAD54L2_uc011bdu.1_Missense_Mutation_p.V720M|RAD54L2_uc003dbj.2_Missense_Mutation_p.V352M	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1026						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGTTCGTCCTGTGCAGTCCAC	0.507													A	51690036	G	A	51690036	3	1	253	1	0	0	0	0	1	0	0	0	12994	1377	48	4	3146	4	RAD54L2	3	51690036	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1999729	51690036	146332394	161	125759											
RAD54L2	23132	broad.mit.edu	37	chr3	51696526	51696526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgaccctgaggggctggCcaggcccgtctctcctgaca	12	18	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:51696526C>T	uc011bdt.1	+	22	3619	c.3494C>T	c.(3493-3495)GCC>GTC	p.A1165V	RAD54L2_uc003dbh.2_Missense_Mutation_p.A754V|RAD54L2_uc011bdu.1_Missense_Mutation_p.A859V|RAD54L2_uc003dbj.2_Missense_Mutation_p.A491V	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1165						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAGGGGCTGGCCAGGCCCGTC	0.607													T	51696526	C	T	51696526	3	4	253	1	0	0	0	0	1	0	0	0	12994	739	26	2	3576	2	RAD54L2	3	51696526	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6490	51696526	146325904	162	125760											
WDR82	80335	broad.mit.edu	37	chr3	52292564	52292564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacataccatgttggaacaCgcactggcaaaagtcatgaa	8	10	2	1	rs141471824	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:52292564C>T	uc003ddl.2	-	8	1182	c.900G>A	c.(898-900)GCG>GCA	p.A300A	WDR82_uc003ddk.2_Silent_p.A225A	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	300	WD 6.				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding				0				BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGTTGGAACACGCACTGGCAA	0.493													T	52292564	C	T	52292564	2	4	253	1	0	0	0	0	0	0	0	1	17328	523	19	1		1	WDR82	3	52292564	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	596038	52292564	145729866	163	125761											
FLNB	2317	broad.mit.edu	37	chr3	58118575	58118576	+	Frame_Shift_Ins	INS	-	-	CA													tggtggacaatggagatggcINSacacacacagtaacctacac							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:58118574_58118575G>GCA	uc003djj.2	+	25	4595_4596	c.4430_4431G>GCA	c.(4429-4431)ggcfs	p.G1477fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.G1508fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.G1308fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.G1308fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1477	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AATGGAGATGGCACACACACAG	0.52													CA	58118576	-	CA	58118575	7	5	253	1	0	1	1	0	0	0	0	0	5934	697	25	0	4630	0	FLNB	3	58118575	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	5826011	58118575	139903855	164	125762											
FEZF2	55079	broad.mit.edu	37	chr3	62357222	62357222	+	Frame_Shift_Del	DEL	T	T	-													acgtacctgggtgtggataaTtttgtgcctgcagagcgtgc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:62357221_62357221AT>A	uc003dlh.2	-	1	1181	c.974_974AT>T	c.(973-975)attfs	p.I325fs	FEZF2_uc003dli.2_Frame_Shift_Del_p.I325fs	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	325					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)		GGTGTGGATAATTTTGTGCCT	0.612													-	62357222	T	-	62357222	7	5	253	1	0	1	0	1	0	0	0	0	5826	1493	52	0	418	0	FEZF2	3	62357222	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	4238647	62357222	135665208	165	125763											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133273	64133273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatctggccctgcttcgggAggaatggccgccccaggagg	15	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:64133273A>G	uc003dmf.2	-	7	1479	c.893T>C	c.(892-894)CTC>CCC	p.L298P		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	298	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		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)		CTGCTTCGGGAGGAATGGCCG	0.582													G	64133273	A	G	64133273	3	3	253	1	0	0	0	0	1	0	0	0	12487	304	11	3	1649	3	PRICKLE2	3	64133273	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1776051	64133273	133889157	166	125764											
FRMD4B	23150	broad.mit.edu	37	chr3	69230203	69230203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgctggtaccagccacGcaagtgctcggcaactaagg	13	14	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:69230203G>A	uc003dnv.2	-	21	2988	c.2698C>T	c.(2698-2700)CGT>TGT	p.R900C	FRMD4B_uc003dnw.2_RNA|FRMD4B_uc003dnu.2_Missense_Mutation_p.R552C|FRMD4B_uc011bga.1_Missense_Mutation_p.R744C	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	900						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TACCAGCCACGCAAGTGCTCG	0.572													A	69230203	G	A	69230203	3	1	253	1	0	0	0	0	1	0	0	0	6052	1087	38	1	418	1	FRMD4B	3	69230203	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5096930	69230203	128792227	167	125765											
ROBO2	6092	broad.mit.edu	37	chr3	77671492	77671492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgatgatgccgacgaCgaagaggaagctttagaaat	13	6	0	5	rs2272164		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:77671492C>T	uc003dpy.3	+	23	4312	c.3669C>T	c.(3667-3669)GAC>GAT	p.D1223D	ROBO2_uc003dpz.2_Silent_p.D1227D|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.D1227D	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1223	Cytoplasmic (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		ATGCCGACGACGAAGAGGAAG	0.502													T	77671492	C	T	77671492	2	4	253	1	0	0	0	0	0	0	0	1	13514	535	19	1		1	ROBO2	3	77671492	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8441289	77671492	120350938	168	125766											
CGGBP1	8545	broad.mit.edu	37	chr3	88105087	88105087	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacaaagcagtcttagaacGgtttcgagcaggtggtgctg	13	7	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:88105087G>C	uc003dqs.2	-	4	552	c.40C>G	c.(40-42)CGT>GGT	p.R14G	CGGBP1_uc003dqt.2_Missense_Mutation_p.R14G|CGGBP1_uc003dqu.2_Missense_Mutation_p.R14G	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GTCTTAGAACGGTTTCGAGCA	0.413													C	88105087	G	C	88105087	3	2	253	1	0	0	0	0	1	0	0	0	3302	1116	39	5	467	5	CGGBP1	3	88105087	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	10433595	88105087	109917343	169	125767											
TMPRSS7	344805	broad.mit.edu	37	chr3	111795816	111795816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaagaattgtggtccaCgagtactataacagtcagac	11	7	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:111795816C>T	uc010hqb.2	+	14	1841	c.1671C>T	c.(1669-1671)CAC>CAT	p.H557H	TMPRSS7_uc011bhr.1_Silent_p.H412H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	683	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						TTGTGGTCCACGAGTACTATA	0.478													T	111795816	C	T	111795816	2	4	253	1	0	0	0	0	0	0	0	1	16249	535	19	1		1	TMPRSS7	3	111795816	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	23690729	111795816	86226614	170	125768											
CCDC80	151887	broad.mit.edu	37	chr3	112358275	112358275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggtagtagccttccgAggcatgaggggctgagatga	18	7	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:112358275A>C	uc003dzf.2	-	2	696	c.478T>G	c.(478-480)TCG>GCG	p.S160A	CCDC80_uc011bhv.1_Missense_Mutation_p.S160A|CCDC80_uc003dzg.2_Missense_Mutation_p.S160A|CCDC80_uc003dzh.1_Missense_Mutation_p.S160A	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	160										ovary(2)	2						TAGCCTTCCGAGGCATGAGGG	0.557													C	112358275	A	C	112358275	3	2	253	1	0	0	0	0	1	0	0	0	2854	304	11	5	2402	5	CCDC80	3	112358275	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	562459	112358275	85664155	171	125769											
BOC	91653	broad.mit.edu	37	chr3	112969433	112969433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcaccgtccagcctgcGtccaccgtccagaagcccgg	11	18	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:112969433G>A	uc003dzx.2	+	4	750	c.129G>A	c.(127-129)GCG>GCA	p.A43A	BOC_uc010hqi.2_Silent_p.A43A|BOC_uc003dzy.2_Silent_p.A43A|BOC_uc003dzz.2_Silent_p.A43A|BOC_uc003dzw.1_Silent_p.A43A|BOC_uc003eaa.1_Silent_p.A43A	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	43	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCCAGCCTGCGTCCACCGTCC	0.552													A	112969433	G	A	112969433	2	1	253	1	0	0	0	0	0	0	0	1	1481	1132	40	1		1	BOC	3	112969433	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	611158	112969433	85052997	172	125770											
KIAA2018	205717	broad.mit.edu	37	chr3	113379374	113379374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccgaaagagtgcttatAggaatggtggccttccctac	10	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:113379374A>G	uc003eam.2	-	7	1566	c.1155T>C	c.(1153-1155)CCT>CCC	p.P385P	KIAA2018_uc003eal.2_Silent_p.P329P	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	385					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GAGTGCTTATAGGAATGGTGG	0.428													G	113379374	A	G	113379374	2	3	253	1	0	0	0	0	0	0	0	1	8268	407	15	3		3	KIAA2018	3	113379374	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	409941	113379374	84643056	173	125771											
PLXNA1	5361	broad.mit.edu	37	chr3	126730836	126730836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctccacgcagatctaCgtgccagtgggagtggtaaa	12	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:126730836C>T	uc003ejg.2	+	9	2083	c.2079C>T	c.(2077-2079)TAC>TAT	p.Y693Y		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	716	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CGCAGATCTACGTGCCAGTGG	0.617													T	126730836	C	T	126730836	2	4	253	1	0	0	0	0	0	0	0	1	12119	547	19	1		1	PLXNA1	3	126730836	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	13351462	126730836	71291594	174	125772											
EEFSEC	60678	broad.mit.edu	37	chr3	128060255	128060255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctctgtggaaaagatAccgtatttccgggggcccct	10	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:128060255A>G	uc003eki.2	+	5	1004	c.966A>G	c.(964-966)ATA>ATG	p.I322M	EEFSEC_uc003ekj.2_Missense_Mutation_p.I267M	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	322						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						TGGAAAAGATACCGTATTTCC	0.582													G	128060255	A	G	128060255	3	3	253	1	0	0	0	0	1	0	0	0	4931	381	14	3	984	3	EEFSEC	3	128060255	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1329419	128060255	69962175	175	125773											
PIK3R4	30849	broad.mit.edu	37	chr3	130447382	130447382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtaatcatgtgggacaAcaaaacatcgttggctttct	9	7	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:130447382A>G	uc003enj.2	-	6	2313	c.1732T>C	c.(1732-1734)TTG>CTG	p.L578L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	578	HEAT 3.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						ATGTGGGACAACAAAACATCG	0.353													G	130447382	A	G	130447382	2	3	253	1	0	0	0	0	0	0	0	1	11921	40	2	3		3	PIK3R4	3	130447382	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2387127	130447382	67575048	176	125774											
DZIP1L	199221	broad.mit.edu	37	chr3	137822357	137822357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcattagcagctgctgcaGggtgctgatcatcttgcgac	12	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:137822357G>T	uc003erq.2	-	2	820	c.457C>A	c.(457-459)CTG>ATG	p.L153M	DZIP1L_uc003err.1_Missense_Mutation_p.L153M	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	153						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						AGCTGCTGCAGGGTGCTGATC	0.662													T	137822357	G	T	137822357	3	4	253	1	0	0	0	0	1	0	0	0	4864	991	35	5	1915	5	DZIP1L	3	137822357	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7374975	137822357	60200073	177	125775											
PRR23B	389151	broad.mit.edu	37	chr3	138738987	138738987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagagcccagcggctgagcCggttggggagtccatccgga	17	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:138738987C>T	uc003esy.1	-	1	782	c.517G>A	c.(517-519)GGC>AGC	p.G173S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	173										breast(1)	1						GCGGCTGAGCCGGTTGGGGAG	0.652													T	138738987	C	T	138738987	3	4	253	1	0	0	0	0	1	0	0	0	12595	652	23	1	284	1	PRR23B	3	138738987	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	916630	138738987	59283443	178	125776											
ATP1B3	483	broad.mit.edu	37	chr3	141632589	141632589	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcatgtcagtttcctAtttcattacttcaagcatgc	6	9	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:141632589A>T	uc003eug.1	+	4	616	c.442A>T	c.(442-444)ATT>TTT	p.I148F	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.I134F	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	148	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						TCAGTTTCCTATTTCATTACT	0.378													T	141632589	A	T	141632589	3	4	253	1	0	0	0	0	1	0	0	0	1134	449	16	5	456	5	ATP1B3	3	141632589	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2893602	141632589	56389841	179	125777											
ATR	545	broad.mit.edu	37	chr3	142266679	142266679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatagtgttctccaataCgcagcaataattcattatgc	7	8	2	1	rs146504354		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142266679C>T	uc003eux.3	-	16	3367	c.3245G>A	c.(3244-3246)CGT>CAT	p.R1082H		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1082					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			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TTCTCCAATACGCAGCAATAA	0.373								Other_conserved_DNA_damage_response_genes					T	142266679	C	T	142266679	3	4	253	1	0	0	0	0	1	0	0	0	1204	536	19	1	4817	1	ATR	3	142266679	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	634090	142266679	55755751	180	125778											
PLS1	5357	broad.mit.edu	37	chr3	142388367	142388367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacagcaacaaagatgGcaaaatcagttttgaagagt	10	6	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142388367G>A	uc010huv.2	+	3	365	c.206G>A	c.(205-207)GGC>GAC	p.G69D	PLS1_uc003euz.2_Missense_Mutation_p.G69D|PLS1_uc003eva.2_Missense_Mutation_p.G69D	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN	plastin 1	69	2 (Potential).|EF-hand 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(1)	1						AACAAAGATGGCAAAATCAGT	0.418													A	142388367	G	A	142388367	3	1	253	1	0	0	0	0	1	0	0	0	12107	1203	42	2	212	2	PLS1	3	142388367	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	121688	142388367	55634063	181	125779											
TRPC1	7220	broad.mit.edu	37	chr3	142524988	142524988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaatctaaacgaactgCgccaagatctgtcaaaattc	7	9	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142524988C>T	uc003evc.2	+	13	2429	c.2293C>T	c.(2293-2295)CGC>TGC	p.R765C	TRPC1_uc003evb.2_Missense_Mutation_p.R731C	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	765					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			ovary(2)	2						AAACGAACTGCGCCAAGATCT	0.373													T	142524988	C	T	142524988	3	4	253	1	0	0	0	0	1	0	0	0	16575	768	27	1	2237	1	TRPC1	3	142524988	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	136621	142524988	55497442	182	125780											
TRPC1	7220	broad.mit.edu	37	chr3	142525010	142525010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagatctgtcaaaattccGaaatgaaataagggatttac	7	7	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:142525010G>A	uc003evc.2	+	13	2451	c.2315G>A	c.(2314-2316)CGA>CAA	p.R772Q	TRPC1_uc003evb.2_Missense_Mutation_p.R738Q	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	772					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			ovary(2)	2						TCAAAATTCCGAAATGAAATA	0.363													A	142525010	G	A	142525010	3	1	253	1	0	0	0	0	1	0	0	0	16575	1058	37	1	2259	1	TRPC1	3	142525010	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	22	142525010	55497420	183	125781											
ZIC4	84107	broad.mit.edu	37	chr3	147113919	147113919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcggggtcgcggtgccGtcggccgccagccacttgca	16	15	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:147113919G>A	uc003ewd.1	-	3	681	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ZIC4_uc003ewc.1_Silent_p.D66D|ZIC4_uc011bno.1_Silent_p.D186D	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	136	C2H2-type 1; atypical.					nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						TCGCGGTGCCGTCGGCCGCCA	0.657													A	147113919	G	A	147113919	2	1	253	1	0	0	0	0	0	0	0	1	17678	1136	40	1		1	ZIC4	3	147113919	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4588909	147113919	50908511	184	125782											
MED12L	116931	broad.mit.edu	37	chr3	151105932	151105932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacaaaaggaaggaagcGcaagacgaaatctagctcaa	10	7	2	1	rs149611856		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:151105932G>A	uc003eyp.2	+	35	5356	c.5318G>A	c.(5317-5319)CGC>CAC	p.R1773H	MED12L_uc011bnz.1_Missense_Mutation_p.R1633H|MED12L_uc003eyy.1_Missense_Mutation_p.R936H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1773					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAGGAAGCGCAAGACGAAA	0.428													A	151105932	G	A	151105932	3	1	253	1	0	0	0	0	1	0	0	0	9429	1087	38	1	5456	1	MED12L	3	151105932	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3992013	151105932	46916498	185	125783											
ZBBX	79740	broad.mit.edu	37	chr3	167068281	167068283	+	In_Frame_Del	DEL	TCT	TCT	-													caaagcatcctgaacaataaTcttctccacattcaaggcat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:167068280_167068282ATCT>A	uc011bpc.2	-	8	791_793	c.454_456AGAT>T	c.(454-456)gat>T	p.D152del	ZBBX_uc003feq.3_In_Frame_Del_p.D123del|ZBBX_uc003fep.3_In_Frame_Del_p.D152del	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	152						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						CTGAACAATAATCTTCTCCACAT	0.31													-	167068283	TCT	-	167068281	7	5	253	1	0	1	0	1	0	0	0	0	17513	1435	50	0	1999	0	ZBBX	3	167068281	In_Frame_Del	DEL	TCT	TCGA-HJ-7597-01A-21D-2201-08	15962349	167068281	30954149	186	125784											
MECOM	2122	broad.mit.edu	37	chr3	168818750	168818751	+	Splice_Site	DEL	TC	TC	-													ggaaaaatcttgccacagtaTctgttatgaaaagatgttta							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:168818749_168818750ATC>A	uc011bpj.1	-	12	3175	c.2772_splice	c.e12-1	p.R924_splice	MECOM_uc010hwk.1_Splice_Site_p.R750_splice|MECOM_uc003ffj.3_Splice_Site_p.R801_splice|MECOM_uc003ffi.3_Splice_Site_p.R736_splice|MECOM_uc011bpi.1_Splice_Site_p.R728_splice|MECOM_uc003ffn.3_Splice_Site_p.R736_splice|MECOM_uc003ffk.2_Splice_Site_p.R727_splice|MECOM_uc003ffl.2_Splice_Site_p.R887_splice|MECOM_uc011bpk.1_Splice_Site_p.R736_splice	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	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						TTGCCACAGTATCTGTTATGAA	0.401													-	168818751	TC	-	168818750	8	5	253	1	0	1	0	1	0	0	1	0	9422	1449	50	0	971	0	MECOM	3	168818750	Splice_Site	DEL	TC	TCGA-HJ-7597-01A-21D-2201-08	1750469	168818750	29203680	187	125785											
NCEH1	57552	broad.mit.edu	37	chr3	172351525	172351525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaatgagtggggcggagcGggcatccagcaactgaggaa	17	8	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:172351525G>A	uc011bpx.1	-	5	1225	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	NCEH1_uc003fig.2_Missense_Mutation_p.R355C|NCEH1_uc011bpw.1_Missense_Mutation_p.R190C|NCEH1_uc011bpy.1_Missense_Mutation_p.R190C	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	323	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						GGGGCGGAGCGGGCATCCAGC	0.542													A	172351525	G	A	172351525	3	1	253	1	0	0	0	0	1	0	0	0	10215	1116	39	1	263	1	NCEH1	3	172351525	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3532775	172351525	25670905	188	125786											
PEX5L	51555	broad.mit.edu	37	chr3	179537729	179537729	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagccatttcttcccaTtctgcttgcatcttatccca	4	16	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:179537729T>G	uc003fki.1	-	9	988	c.858A>C	c.(856-858)GAA>GAC	p.E286D	PEX5L_uc011bqd.1_Missense_Mutation_p.E243D|PEX5L_uc011bqe.1_Missense_Mutation_p.E94D|PEX5L_uc011bqf.1_Missense_Mutation_p.E178D|PEX5L_uc003fkj.1_Missense_Mutation_p.E251D|PEX5L_uc010hxd.1_Missense_Mutation_p.E284D|PEX5L_uc011bqg.1_Missense_Mutation_p.E262D|PEX5L_uc011bqh.1_Missense_Mutation_p.E227D	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	286					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	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)			TTTCTTCCCATTCTGCTTGCA	0.428													G	179537729	T	G	179537729	3	3	253	1	0	0	0	0	1	0	0	0	11749	1490	52	5	1050	5	PEX5L	3	179537729	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	7186204	179537729	18484701	189	125787											
TTC14	151613	broad.mit.edu	37	chr3	180323593	180323594	+	Frame_Shift_Ins	INS	-	-	A													attttgcttctgcattgagaINSaaaaaacaatccgcatcttg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:180323592_180323593G>GA	uc003fkk.3	+	6	1028_1029	c.896_897G>GA	c.(895-897)agafs	p.R299fs	TTC14_uc003fkl.3_Frame_Shift_Ins_p.R299fs|TTC14_uc003fkm.2_Frame_Shift_Ins_p.R299fs	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	299							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)			TCTGCATTGAGAAAAAAACAAT	0.292													A	180323594	-	A	180323593	7	5	253	1	0	1	1	0	0	0	0	0	16678	243	9	0	923	0	TTC14	3	180323593	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	785864	180323593	17698837	190	125788											
HTR3D	200909	broad.mit.edu	37	chr3	183756182	183756182	+	Frame_Shift_Del	DEL	C	C	-													gcctctggccctcatgcagaCccccttgcctgcaggtgtct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183756182delC	uc011bqv.1	+	7	905	c.905delC	c.(904-906)ACCfs	p.T302fs	HTR3D_uc003fmj.2_Intron|HTR3D_uc011bqu.1_Intron|HTR3D_uc010hxp.2_Intron	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	302	Extracellular (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCATGCAGACCCCCTTGCCT	0.582													-	183756182	C	-	183756182	7	5	253	1	0	1	0	1	0	0	0	0	7447	507	18	0	1101	0	HTR3D	3	183756182	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	3432589	183756182	14266248	191	125789											
HTR3E	285242	broad.mit.edu	37	chr3	183824457	183824457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctcctctatcatcacCgtcatatgcctctggaacac	6	15	5	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183824457C>T	uc010hxq.2	+	9	1813	c.1347C>T	c.(1345-1347)ACC>ACT	p.T449T	HTR3E_uc003fml.3_Silent_p.T434T|HTR3E_uc003fmm.2_Silent_p.T464T|HTR3E_uc010hxr.2_Silent_p.T475T|HTR3E_uc003fmn.2_Silent_p.T449T	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	449	Helical; Name=4; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTATCATCACCGTCATATGCC	0.582													T	183824457	C	T	183824457	2	4	253	1	0	0	0	0	0	0	0	1	7448	639	23	1		1	HTR3E	3	183824457	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	68275	183824457	14197973	192	125790											
EIF2B5	8893	broad.mit.edu	37	chr3	183853261	183853261	+	Frame_Shift_Del	DEL	G	G	-													ggccgggaggcagcggtggcGggggagccagaggggcggag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183853261delG	uc003fmp.2	+	1	452	c.88delG	c.(88-90)GGGfs	p.G30fs	EIF2B5_uc010hxs.2_Frame_Shift_Del_p.G30fs|EIF2B5_uc003fmq.2_5'UTR	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	30					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			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGCGGTGGCGGGGGAGCCAG	0.682											OREG0015363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	183853261	G	-	183853261	7	5	253	1	0	1	0	1	0	0	0	0	5004	1116	39	0	90	0	EIF2B5	3	183853261	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	28804	183853261	14169169	193	125791											
ECE2	9718	broad.mit.edu	37	chr3	183994720	183994720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagctgttaggctcacGcacgcagctggagctggtct	13	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:183994720G>A	uc003fni.3	+	3	559	c.521G>A	c.(520-522)CGC>CAC	p.R174H	ECE2_uc011brg.1_Missense_Mutation_p.R102H|ECE2_uc011brh.1_Missense_Mutation_p.R27H|ECE2_uc003fnl.3_Missense_Mutation_p.R102H|ECE2_uc003fnm.3_Missense_Mutation_p.R56H|ECE2_uc003fnk.3_Missense_Mutation_p.R27H|ECE2_uc011bri.1_Missense_Mutation_p.R89H|ECE2_uc010hxv.2_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	174	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTAGGCTCACGCACGCAGCTG	0.592													A	183994720	G	A	183994720	3	1	253	1	0	0	0	0	1	0	0	0	4890	1087	38	1	1095	1	ECE2	3	183994720	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	141459	183994720	14027710	194	125792											
BCL6	604	broad.mit.edu	37	chr3	187442794	187442794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgaaggtgccggaaacGggtgccacagatttcacagg	14	9	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:187442794G>A	uc003frp.3	-	9	2369	c.1912C>T	c.(1912-1914)CGT>TGT	p.R638C	BCL6_uc011bsf.1_Missense_Mutation_p.R582C|BCL6_uc010hza.2_Missense_Mutation_p.R536C|BCL6_uc003frq.1_Missense_Mutation_p.R638C	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	638	C2H2-type 5.				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			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGCCGGAAACGGGTGCCACAG	0.557			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								A	187442794	G	A	187442794	3	1	253	1	0	0	0	0	1	0	0	0	1376	1116	39	1	216	1	BCL6	3	187442794	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3448074	187442794	10579636	195	125793											
TNK2	10188	broad.mit.edu	37	chr3	195595229	195595230	+	Frame_Shift_Ins	INS	-	-	G													cacgtcgtcataggcgggcgINSgggggggcagcgggcgtgcg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:195595228_195595229C>CG	uc003fvu.1	-	11	2438_2439	c.1895_1896G>CG	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			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)	CATAGGCGGGCGGGGGGGGCAG	0.728													G	195595230	-	G	195595229	7	5	253	1	0	1	1	0	0	0	0	0	16315	1116	39	0	1237	0	TNK2	3	195595229	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	8152435	195595229	2427201	196	125794											
WDR53	348793	broad.mit.edu	37	chr3	196288243	196288243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttccatcttcaccccaaGccgtgagatctccgccctct	7	17	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:196288243G>T	uc003fwt.2	-	3	575	c.104C>A	c.(103-105)GCT>GAT	p.A35D		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	35	WD 1.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTCACCCCAAGCCGTGAGATC	0.542													T	196288243	G	T	196288243	3	4	253	1	0	0	0	0	1	0	0	0	17302	971	34	5	980	5	WDR53	3	196288243	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	693014	196288243	1734187	197	125795											
KIAA0226	9711	broad.mit.edu	37	chr3	197421303	197421303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgcggatttgctggcGccgaaggcggatcttctgct	15	10	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr3:197421303G>A	uc003fyc.2	-	10	1810	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	KIAA0226_uc003fyd.3_Missense_Mutation_p.R498C|KIAA0226_uc003fye.1_Missense_Mutation_p.R250C|KIAA0226_uc003fyf.2_Missense_Mutation_p.R391C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	543					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	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)		ATTTGCTGGCGCCGAAGGCGG	0.547													A	197421303	G	A	197421303	3	1	253	1	0	0	0	0	1	0	0	0	8162	1087	38	1	1335	1	KIAA0226	3	197421303	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1133060	197421303	601127	198	125796											
TMEM175	84286	broad.mit.edu	37	chr4	941596	941596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccccaggcaggagagaCgaggacgctggggaggggat	19	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:941596C>T	uc003gbq.2	+	2	167	c.69C>T	c.(67-69)GAC>GAT	p.D23D	TMEM175_uc010ibl.1_Silent_p.D23D|TMEM175_uc003gbp.1_Translation_Start_Site|TMEM175_uc003gbr.2_Translation_Start_Site|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Translation_Start_Site|TMEM175_uc003gbt.2_Translation_Start_Site|TMEM175_uc003gbv.2_Intron	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	23						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGGAGAGACGAGGACGCTG	0.687													T	941596	C	T	941596	2	4	253	1	0	0	0	0	0	0	0	1	16088	535	19	1		1	TMEM175	4	941596	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08		941596	190212680	199	125797											
DRD5	1816	broad.mit.edu	37	chr4	9784294	9784294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggagcccgacgtgaatgCagagaactgtgactccagcc	13	11	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:9784294C>T	uc003gmb.3	+	1	1037	c.641C>T	c.(640-642)GCA>GTA	p.A214V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	214	Extracellular (Potential).				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				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GACGTGAATGCAGAGAACTGT	0.602													T	9784294	C	T	9784294	3	4	253	1	0	0	0	0	1	0	0	0	4760	710	25	2	643	2	DRD5	4	9784294	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8842698	9784294	181369982	200	125798											
SCFD2	152579	broad.mit.edu	37	chr4	54140037	54140037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagttgtcccacttggCagtctgtgggtgtttcaacg	12	9	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:54140037C>T	uc003gzu.2	-	4	1401	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	SCFD2_uc010igm.2_Missense_Mutation_p.A423T	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	423					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCCACTTGGCAGTCTGTGGG	0.448													T	54140037	C	T	54140037	3	4	253	1	0	0	0	0	1	0	0	0	13890	710	25	2	811	2	SCFD2	4	54140037	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	44355743	54140037	137014239	201	125799											
SRD5A3	79644	broad.mit.edu	37	chr4	56225592	56225592	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttactcaatctctgttcctgGgagcaccttttccaagctgg	8	12	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:56225592G>T	uc003hau.2	+	2	396	c.301G>T	c.(301-303)GGA>TGA	p.G101*		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	101	Helical; (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TCTGTTCCTGGGAGCACCTTT	0.493													T	56225592	G	T	56225592	4	4	253	1	0	0	0	0	0	1	0	0	15139	1233	43	5	307	5	SRD5A3	4	56225592	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2085555	56225592	134928684	202	125800											
AASDH	132949	broad.mit.edu	37	chr4	57221488	57221488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactgtcaatgatggaaaCgcttcaccaccaagggctaa	9	10	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:57221488C>T	uc003hbn.2	-	6	1116	c.963G>A	c.(961-963)GCG>GCA	p.A321A	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.A168A|AASDH_uc003hbo.2_Silent_p.A221A|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.A321A|AASDH_uc003hbp.2_Silent_p.A321A	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	321					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ATGATGGAAACGCTTCACCAC	0.413													T	57221488	C	T	57221488	2	4	253	1	0	0	0	0	0	0	0	1	22	523	19	1		1	AASDH	4	57221488	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	995896	57221488	133932788	203	125801											
STAP1	26228	broad.mit.edu	37	chr4	68447135	68447135	+	Frame_Shift_Del	DEL	A	A	-													agagcagagtacgtccgtggAaaaagagaaggaaccaactg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:68447134_68447134GA>G	uc003hde.4	+	4	557	c.475_475GA>G	c.(475-477)gaafs	p.E159fs	STAP1_uc003hdf.3_Frame_Shift_Del_p.E159fs	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	159					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TACGTCCGTGGAAAAAGAGAA	0.423													-	68447135	A	-	68447135	7	5	253	1	0	1	0	1	0	0	0	0	15251	246	9	0	494	0	STAP1	4	68447135	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	11225647	68447135	122707141	204	125802											
UGT2B15	7366	broad.mit.edu	37	chr4	69536157	69536157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcattgacaagagtagaAgccgaagatgtcaacacagt	11	8	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:69536157A>G	uc011cal.1	-	1	218	c.180T>C	c.(178-180)GCT>GCC	p.A60A		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	60					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0						CAAGAGTAGAAGCCGAAGATG	0.373													G	69536157	A	G	69536157	2	3	253	1	0	0	0	0	0	0	0	1	16955	59	3	3		3	UGT2B15	4	69536157	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1089022	69536157	121618119	205	125803											
PAQR3	152559	broad.mit.edu	37	chr4	79841787	79841787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaatataacatcactactGcaaggatatgccatatttgg	6	9	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:79841787G>A	uc003hlp.1	-	6	1046	c.842C>T	c.(841-843)GCA>GTA	p.A281V	PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_Missense_Mutation_p.A163V	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	281	Helical; (Potential).					Golgi membrane|integral to membrane	receptor activity				0						CATCACTACTGCAAGGATATG	0.378													A	79841787	G	A	79841787	3	1	253	1	0	0	0	0	1	0	0	0	11436	1319	46	2	97	2	PAQR3	4	79841787	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	10305630	79841787	111312489	206	125804											
GK2	2712	broad.mit.edu	37	chr4	80329257	80329257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatgactaagtagttccGctgtttttgaattgaaaacc	9	6	0	4	rs140376639	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:80329257G>A	uc003hlu.2	-	1	116	c.98C>T	c.(97-99)GCG>GTG	p.A33V		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	33					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						AAGTAGTTCCGCTGTTTTTGA	0.493													A	80329257	G	A	80329257	3	1	253	1	0	0	0	0	1	0	0	0	6421	1087	38	1	1567	1	GK2	4	80329257	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	487470	80329257	110825019	207	125805											
C4orf22	255119	broad.mit.edu	37	chr4	81866027	81866027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaactatcaagtgattgcCgataatccagaaggcttact	7	11	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:81866027C>T	uc003hmf.2	+	5	589	c.540C>T	c.(538-540)GCC>GCT	p.A180A	C4orf22_uc010ijp.2_Silent_p.A197A	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	180										skin(2)	2						AAGTGATTGCCGATAATCCAG	0.323													T	81866027	C	T	81866027	2	4	253	1	0	0	0	0	0	0	0	1	2255	639	23	1		1	C4orf22	4	81866027	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1536770	81866027	109288249	208	125806											
PRKG2	5593	broad.mit.edu	37	chr4	82026979	82026979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcacctgcaaagcctcCgaatcaaatcctcaggtcgt	6	14	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:82026979C>T	uc003hmh.2	-	15	2065	c.2051G>A	c.(2050-2052)CGG>CAG	p.R684Q	PRKG2_uc011ccf.1_Missense_Mutation_p.R264Q|PRKG2_uc011ccg.1_Missense_Mutation_p.R264Q|PRKG2_uc011cch.1_Missense_Mutation_p.R655Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	684	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						GCAAAGCCTCCGAATCAAATC	0.398													T	82026979	C	T	82026979	3	4	253	1	0	0	0	0	1	0	0	0	12523	652	23	1	253	1	PRKG2	4	82026979	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	160952	82026979	109127297	209	125807											
SEC31A	22872	broad.mit.edu	37	chr4	83785628	83785628	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgaagttggtctgatcGgctgaggaactccttttctg	12	9	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:83785628G>A	uc003hnf.2	-	11	1485	c.1321C>T	c.(1321-1323)CGA>TGA	p.R441*	SEC31A_uc003hne.2_Nonsense_Mutation_p.R213*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hng.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hni.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.R441*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.R436*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hno.2_Nonsense_Mutation_p.R441*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	441	Interaction with SEC13.				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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TGGTCTGATCGGCTGAGGAAC	0.433													A	83785628	G	A	83785628	4	1	253	1	0	0	0	0	0	1	0	0	13998	1124	39	1	2409	1	SEC31A	4	83785628	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1758649	83785628	107368648	210	125808											
AGPAT9	84803	broad.mit.edu	37	chr4	84511411	84511411	+	Frame_Shift_Del	DEL	T	T	-													ccatacttcccccattgatgTtttaatcttgacaacggatg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:84511410_84511410GT>G	uc003how.3	+	6	921	c.703_703GT>G	c.(703-705)gttfs	p.V235fs	AGPAT9_uc003hox.3_Frame_Shift_Del_p.V235fs|AGPAT9_uc003hoy.3_Frame_Shift_Del_p.V235fs	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	235					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCCCATTGATGTTTTAATCTT	0.368													-	84511411	T	-	84511411	7	5	253	1	0	1	0	1	0	0	0	0	392	1725	60	0	726	0	AGPAT9	4	84511411	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	725783	84511411	106642865	211	125809											
WDFY3	23001	broad.mit.edu	37	chr4	85708803	85708803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaccaatgtaggcatagaCcgtgctcaccactggtggat	11	10	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:85708803C>T	uc003hpd.2	-	23	4141	c.3733G>A	c.(3733-3735)GTC>ATC	p.V1245I		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1245						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAGGCATAGACCGTGCTCACC	0.483													T	85708803	C	T	85708803	3	4	253	1	0	0	0	0	1	0	0	0	17267	507	18	4	7031	4	WDFY3	4	85708803	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1197392	85708803	105445473	212	125810											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916560	86916560	+	Frame_Shift_Del	DEL	G	G	-													gcccagagcaagacttttttGgggggaactttgaggaccct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:86916559_86916559TG>T	uc003hpk.3	+	8	2201	c.1752_1752TG>T	c.(1750-1752)tttfs	p.F584fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.F489fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.F499fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.F491fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	584					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)		AAGACTTTTTTGGGGGGAACT	0.557													-	86916560	G	-	86916560	7	5	253	1	0	1	0	1	0	0	0	0	873	1348	47	0	1899	0	ARHGAP24	4	86916560	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	1207757	86916560	104237716	213	125811											
PTPN13	5783	broad.mit.edu	37	chr4	87671685	87671685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaggatttaatatgggaCgagcaatcagcactggcagt	12	6	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:87671685C>T	uc003hpz.2	+	18	3193	c.2713C>T	c.(2713-2715)CGA>TGA	p.R905*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R905*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R905*|PTPN13_uc003hqb.2_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	905						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAATATGGGACGAGCAATCAG	0.468													T	87671685	C	T	87671685	4	4	253	1	0	0	0	0	0	1	0	0	12782	528	19	1	2779	1	PTPN13	4	87671685	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	755125	87671685	103482591	214	125812											
HERC6	55008	broad.mit.edu	37	chr4	89311998	89311998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggaagtaacagtgccGggcagctggccctcagtggg	18	10	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:89311998G>A	uc011cdi.1	+	4	814	c.631G>A	c.(631-633)GGG>AGG	p.G211R	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.G211R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	211	RCC1 4.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TAACAGTGCCGGGCAGCTGGC	0.562													A	89311998	G	A	89311998	3	1	253	1	0	0	0	0	1	0	0	0	7062	1116	39	1	442	1	HERC6	4	89311998	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1640313	89311998	101842278	215	125813											
EIF4E	1977	broad.mit.edu	37	chr4	99812387	99812387	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaacaaatggttacttaCgcccaaaagtcttcaacagt	5	10	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:99812387C>T	uc003hue.2	-	3	1744	c.221_splice	c.e3+1	p.A74_splice	EIF4E_uc011cea.1_Splice_Site_p.A94_splice|EIF4E_uc011ceb.1_Splice_Site_p.A74_splice|EIF4E_uc011cec.1_Splice_Site_p.A74_splice	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E						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			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TGGTTACTTACGCCCAAAAGT	0.294													T	99812387	C	T	99812387	5	4	253	1	0	0	0	0	0	0	1	0	5028	550	19	1	548	1	EIF4E	4	99812387	Splice_Site	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	10500389	99812387	91341889	216	125814											
DNAJB14	79982	broad.mit.edu	37	chr4	100824920	100824920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagttatttcgaatattAgtcacataatcttcctccac	4	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:100824920A>G	uc003hvl.2	-	7	1129	c.978T>C	c.(976-978)ACT>ACC	p.T326T	DNAJB14_uc003hvk.2_Silent_p.T241T|DNAJB14_uc010ili.2_Silent_p.T259T	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	326					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTCGAATATTAGTCACATAAT	0.303													G	100824920	A	G	100824920	2	3	253	1	0	0	0	0	0	0	0	1	4619	407	15	3		3	DNAJB14	4	100824920	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1012533	100824920	90329356	217	125815											
NFKB1	4790	broad.mit.edu	37	chr4	103527761	103527761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggtaactctgttttgCacctagctgccaaagaagga	11	9	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:103527761C>T	uc011ceq.1	+	17	2325	c.1858C>T	c.(1858-1860)CAC>TAC	p.H620Y	NFKB1_uc011cep.1_Missense_Mutation_p.H621Y|NFKB1_uc011cer.1_Missense_Mutation_p.H440Y	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	620	Interaction with CFLAR.|ANK 3.				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|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTCTGTTTTGCACCTAGCTGC	0.517													T	103527761	C	T	103527761	3	4	253	1	0	0	0	0	1	0	0	0	10375	710	25	2	1923	2	NFKB1	4	103527761	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2702841	103527761	87626515	218	125816											
SYNPO2	171024	broad.mit.edu	37	chr4	119952584	119952584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagtcgagaatggagaAgtatgtggtcgattcagaca	14	5	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:119952584A>G	uc003icm.3	+	4	2850	c.2654A>G	c.(2653-2655)AAG>AGG	p.K885R	SYNPO2_uc010ina.2_Missense_Mutation_p.K885R|SYNPO2_uc010inb.2_Missense_Mutation_p.K885R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.K813R	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	885						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						AGAATGGAGAAGTATGTGGTC	0.552													G	119952584	A	G	119952584	3	3	253	1	0	0	0	0	1	0	0	0	15454	72	3	3	2668	3	SYNPO2	4	119952584	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	16424823	119952584	71201692	219	125817											
KIAA1109	84162	broad.mit.edu	37	chr4	123170765	123170765	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgttccagatgtaactCgaataggtcccagccaagaa	9	10	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:123170765C>T	uc003ieh.2	+	34	5683	c.5638C>T	c.(5638-5640)CGA>TGA	p.R1880*	KIAA1109_uc003iek.2_Nonsense_Mutation_p.R499*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1880					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGATGTAACTCGAATAGGTCC	0.343													T	123170765	C	T	123170765	4	4	253	1	0	0	0	0	0	1	0	0	8208	876	31	1	5772	1	KIAA1109	4	123170765	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3218181	123170765	67983511	220	125818											
INTU	27152	broad.mit.edu	37	chr4	128628042	128628042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagatgatggctttagccCccatactacaccggatgcag	10	11	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:128628042C>T	uc003ifk.1	+	12	2259	c.2189C>T	c.(2188-2190)CCC>CTC	p.P730L	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	730										ovary(1)	1						GGCTTTAGCCCCCATACTACA	0.463													T	128628042	C	T	128628042	3	4	253	1	0	0	0	0	1	0	0	0	7786	623	22	4	2235	4	INTU	4	128628042	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5457277	128628042	62526234	221	125819											
PLK4	10733	broad.mit.edu	37	chr4	128807221	128807221	+	Frame_Shift_Del	DEL	T	T	-													gcagattatgaaatgccatcTtttttgtcaatagaggccaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:128807220_128807220CT>C	uc003ifo.3	+	4	969	c.695_695CT>C	c.(694-696)tctfs	p.S232fs	PLK4_uc011cgs.2_Frame_Shift_Del_p.S200fs|PLK4_uc011cgt.2_Frame_Shift_Del_p.S191fs	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	232	Protein kinase.		S -> T (in dbSNP:rs3811740).		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.P231T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAATGCCATCTTTTTTGTCA	0.378													-	128807221	T	-	128807221	7	5	253	1	0	1	0	1	0	0	0	0	12098	1596	56	0	714	0	PLK4	4	128807221	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	179179	128807221	62347055	222	125820											
PCDH10	57575	broad.mit.edu	37	chr4	134084227	134084227	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccttctgatggacgcCaggctgctgattatcgcagc	11	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:134084227C>T	uc003iha.2	+	4	3719	c.2893C>T	c.(2893-2895)CAG>TAG	p.Q965*		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	965	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGATGGACGCCAGGCTGCTGA	0.527													T	134084227	C	T	134084227	4	4	253	1	0	0	0	0	0	1	0	0	11507	595	21	4	2967	4	PCDH10	4	134084227	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5277006	134084227	57070049	223	125821											
POU4F2	5458	broad.mit.edu	37	chr4	147561355	147561355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcgctatggcgggccccGacggcgctgtggtgtccacg	18	13	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:147561355G>A	uc003ikv.2	+	2	873	c.625G>A	c.(625-627)GAC>AAC	p.D209N		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	209					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			breast(1)	1	all_hematologic(180;0.151)					GGCGGGCCCCGACGGCGCTGT	0.647													A	147561355	G	A	147561355	3	1	253	1	0	0	0	0	1	0	0	0	12279	1058	37	1	631	1	POU4F2	4	147561355	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	13477128	147561355	43592921	224	125822											
PRMT10	90826	broad.mit.edu	37	chr4	148594871	148594871	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggattgctgcattataaaTtgtattcctcttggtgtcat	8	6	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:148594871T>A	uc003ilc.2	-	3	635	c.493A>T	c.(493-495)ATT>TTT	p.I165F	PRMT10_uc003ild.2_Missense_Mutation_p.I52F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	165						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						GCATTATAAATTGTATTCCTC	0.403													A	148594871	T	A	148594871	3	1	253	1	0	0	0	0	1	0	0	0	12536	1493	52	5	2084	5	PRMT10	4	148594871	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1033516	148594871	42559405	225	125823											
LRBA	987	broad.mit.edu	37	chr4	151520209	151520209	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggatgtgtcgatcctagaGggttacgcacaaatcgtcgc	12	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:151520209G>C	uc010ipj.2	-	38	6470	c.5996C>G	c.(5995-5997)CCT>CGT	p.P1999R	LRBA_uc003ilt.3_Missense_Mutation_p.P658R|LRBA_uc003ilu.3_Missense_Mutation_p.P1999R	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1999						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CGATCCTAGAGGGTTACGCAC	0.502													C	151520209	G	C	151520209	3	2	253	1	0	0	0	0	1	0	0	0	8931	1000	35	5	2679	5	LRBA	4	151520209	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2925338	151520209	39634067	226	125824											
DCHS2	54798	broad.mit.edu	37	chr4	155241940	155241940	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcaaaaaactgccgtcAtcatctttggcattgaagac	7	10	4	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:155241940A>G	uc003inw.2	-	14	3246	c.3246T>C	c.(3244-3246)GAT>GAC	p.D1082D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1082	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTGCCGTCATCATCTTTGG	0.443													G	155241940	A	G	155241940	2	3	253	1	0	0	0	0	0	0	0	1	4288	214	8	3		3	DCHS2	4	155241940	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	3721731	155241940	35912336	227	125825											
TKTL2	84076	broad.mit.edu	37	chr4	164394816	164394816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccctgatggaatggatcCgcaggcggttggctgtgtcc	16	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:164394816C>T	uc003iqp.3	-	1	232	c.71G>A	c.(70-72)CGG>CAG	p.R24Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	24						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAATGGATCCGCAGGCGGTT	0.602													T	164394816	C	T	164394816	3	4	253	1	0	0	0	0	1	0	0	0	15933	652	23	1	1813	1	TKTL2	4	164394816	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	9152876	164394816	26759460	228	125826											
DDX60	55601	broad.mit.edu	37	chr4	169173785	169173785	+	Frame_Shift_Del	DEL	T	T	-													gctttgatccacatttctggTttttttctggctcttttcat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:169173784_169173784GT>G	uc003irp.3	-	26	3873	c.3581_3581AC>C	c.(3580-3582)accfs	p.T1194fs		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1194							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)		CACATTTCTGGTTTTTTTCTG	0.323													-	169173785	T	-	169173785	7	5	253	1	0	1	0	1	0	0	0	0	4378	1725	60	0	1606	0	DDX60	4	169173785	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	4778969	169173785	21980491	229	125827											
SCRG1	11341	broad.mit.edu	37	chr4	174312470	174312470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagttgtgatcttttagTatctttctgtagcaagagag	10	5	3	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr4:174312470T>C	uc003ite.2	-	2	509	c.96A>G	c.(94-96)ATA>ATG	p.I32M	SCRG1_uc003itf.2_RNA	NM_007281	NP_009212	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1 precursor	32					nervous system development	extracellular space					0		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)		GATCTTTTAGTATCTTTCTGT	0.453													C	174312470	T	C	174312470	3	2	253	1	0	0	0	0	1	0	0	0	13936	1628	57	3	208	3	SCRG1	4	174312470	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	5138685	174312470	16841806	230	125828											
SLC6A18	348932	broad.mit.edu	37	chr5	1243678	1243678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtattgcagagtgcctcGggcccgggcctggccttcgt	15	13	0	1	rs151263479	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:1243678G>A	uc003jby.1	+	9	1263	c.1140G>A	c.(1138-1140)TCG>TCA	p.S380S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	380	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	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)			AGAGTGCCTCGGGCCCGGGCC	0.652													A	1243678	G	A	1243678	2	1	253	1	0	0	0	0	0	0	0	1	14681	1103	39	1		1	SLC6A18	5	1243678	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		1243678	179671582	231	125829											
SEMA5A	9037	broad.mit.edu	37	chr5	9190505	9190505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggctgtaccacctcatGcatcagaatgaacttctgag	8	12	3	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:9190505G>A	uc003jek.2	-	11	1859	c.1147C>T	c.(1147-1149)CAT>TAT	p.H383Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	383	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ACCACCTCATGCATCAGAATG	0.577													A	9190505	G	A	9190505	3	1	253	1	0	0	0	0	1	0	0	0	14037	1319	46	2	2129	2	SEMA5A	5	9190505	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7946827	9190505	171724755	232	125830											
DNAH5	1767	broad.mit.edu	37	chr5	13871844	13871844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaaatgtgattgtagcGtttgaagcaatccatggatg	11	6	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:13871844G>A	uc003jfd.2	-	23	3469	c.3427C>T	c.(3427-3429)CGC>TGC	p.R1143C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1143	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGATTGTAGCGTTTGAAGCAA	0.343									Kartagener_syndrome				A	13871844	G	A	13871844	3	1	253	1	0	0	0	0	1	0	0	0	4604	1145	40	1	10675	1	DNAH5	5	13871844	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4681339	13871844	167043416	233	125831											
TRIO	7204	broad.mit.edu	37	chr5	14389425	14389425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaatgaccagtggcGtggaagagattccacctggc	15	8	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:14389425G>A	uc003jff.2	+	25	3982	c.3976G>A	c.(3976-3978)GTG>ATG	p.V1326M	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.V1277M|TRIO_uc003jfh.1_Missense_Mutation_p.V975M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1326	DH 1.				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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GACCAGTGGCGTGGAAGAGAT	0.398													A	14389425	G	A	14389425	3	1	253	1	0	0	0	0	1	0	0	0	16549	1145	40	1	4074	1	TRIO	5	14389425	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	517581	14389425	166525835	234	125832											
MYO10	4651	broad.mit.edu	37	chr5	16701363	16701363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcagcaccgtgctgtcCgcactggggctggtgggcac	17	13	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:16701363C>T	uc003jft.3	-	25	3609	c.3141G>A	c.(3139-3141)GCG>GCA	p.A1047A	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.A404A|MYO10_uc011cne.1_Silent_p.A404A|MYO10_uc010itx.2_Silent_p.A670A	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1047					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCGTGCTGTCCGCACTGGGGC	0.637													T	16701363	C	T	16701363	2	4	253	1	0	0	0	0	0	0	0	1	10062	639	23	1		1	MYO10	5	16701363	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2311938	16701363	164213897	235	125833											
CDH10	1008	broad.mit.edu	37	chr5	24593378	24593378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagcttaccttgcctacGtactgataatcagatcctgt	6	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:24593378G>A	uc003jgr.1	-	2	554	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	74	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCTTGCCTACGTACTGATAAT	0.333										HNSCC(23;0.051)			A	24593378	G	A	24593378	2	1	253	1	0	0	0	0	0	0	0	1	3096	1140	40	1		1	CDH10	5	24593378	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7892015	24593378	156321882	236	125834											
UGT3A2	167127	broad.mit.edu	37	chr5	36037950	36037950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccaatgtctctgccttgAgcttctttaactgaatagaa	8	9	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:36037950A>G	uc003jjz.1	-	6	1337	c.1244T>C	c.(1243-1245)CTC>CCC	p.L415P	UGT3A2_uc011cos.1_Missense_Mutation_p.L381P|UGT3A2_uc011cot.1_Missense_Mutation_p.L113P	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	415	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCTGCCTTGAGCTTCTTTAA	0.453													G	36037950	A	G	36037950	3	3	253	1	0	0	0	0	1	0	0	0	16961	304	11	3	335	3	UGT3A2	5	36037950	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	11444572	36037950	144877310	237	125835											
EGFLAM	133584	broad.mit.edu	37	chr5	38352305	38352305	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcccacctagattcctgCctgcctcctgcagctcccca	5	20	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:38352305C>A	uc003jlc.1	+	5	741	c.417C>A	c.(415-417)TGC>TGA	p.C139*	EGFLAM_uc003jlb.1_Nonsense_Mutation_p.C139*	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	139						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TAGATTCCTGCCTGCCTCCTG	0.562													A	38352305	C	A	38352305	4	1	253	1	0	0	0	0	0	1	0	0	4966	747	26	5	435	5	EGFLAM	5	38352305	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2314355	38352305	142562955	238	125836											
HCN1	348980	broad.mit.edu	37	chr5	45262136	45262136	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgctggagggactcctcGgttcggggggatggctcccg	20	10	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:45262136G>A	uc003jok.2	-	8	2585	c.2560C>T	c.(2560-2562)CGA>TGA	p.R854*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	854	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGGACTCCTCGGTTCGGGGGG	0.632													A	45262136	G	A	45262136	4	1	253	1	0	0	0	0	0	1	0	0	6996	1124	39	1	116	1	HCN1	5	45262136	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6909831	45262136	135653124	239	125837											
C5orf35	133383	broad.mit.edu	37	chr5	56208890	56208890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagtccattggaaatccGtttatttttagatgcctgga	8	8	0	1	rs146080809	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:56208890G>A	uc003jqx.2	+	3	892	c.519G>A	c.(517-519)CCG>CCA	p.P173P	C5orf35_uc003jqy.2_RNA	NM_153706	NP_714917	Q8NE22	CE035_HUMAN	hypothetical protein LOC133383	173										ovary(1)	1		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)		TTGGAAATCCGTTTATTTTTA	0.348													A	56208890	G	A	56208890	2	1	253	1	0	0	0	0	0	0	0	1	2294	1132	40	1		1	C5orf35	5	56208890	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	10946754	56208890	124706370	240	125838											
ERBB2IP	55914	broad.mit.edu	37	chr5	65320241	65320243	+	In_Frame_Del	DEL	ATC	ATC	-													aaccttcaagacctcctattAtcaagcaattcacttcagca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:65320241_65320243delATC	uc003juk.1	+	10	1088_1090	c.780_782delATC	c.(778-783)TTATCA>TTA	p.S262del	ERBB2IP_uc003juh.1_In_Frame_Del_p.S262del|ERBB2IP_uc003jui.1_In_Frame_Del_p.S262del|ERBB2IP_uc003juj.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqx.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqy.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqz.1_In_Frame_Del_p.S262del|ERBB2IP_uc010iwx.1_In_Frame_Del_p.S262del|ERBB2IP_uc003jul.1_In_Frame_Del_p.S262del	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	262	LRR 11.				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			ovary(3)|lung(2)|central_nervous_system(2)	7		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)		ACCTCCTATTATCAAGCAATTCA	0.31													-	65320243	ATC	-	65320241	7	5	253	1	0	1	0	1	0	0	0	0	5207	446	16	0	810	0	ERBB2IP	5	65320241	In_Frame_Del	DEL	ATC	TCGA-HJ-7597-01A-21D-2201-08	9111351	65320241	115595019	241	125839											
BDP1	55814	broad.mit.edu	37	chr5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-													gaagaaagaaatgttgacctAaaaaataattcactgtaagt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:70791221delA	uc003kbp.1	+	12	2048	c.1785delA	c.(1783-1785)CTAfs	p.L595fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.L595fs|BDP1_uc003kbo.2_Frame_Shift_Del_p.L595fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		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)		ATGTTGACCTAAAAAATAATT	0.303													-	70791221	A	-	70791221	7	5	253	1	0	1	0	1	0	0	0	0	1395	349	13	0	1831	0	BDP1	5	70791221	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	5470980	70791221	110124039	242	125840											
MAP1B	4131	broad.mit.edu	37	chr5	71490625	71490625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatccagcaaaccctgcGgagaaaatcatccgagtcct	9	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:71490625G>A	uc003kbw.3	+	5	1684	c.1443G>A	c.(1441-1443)GCG>GCA	p.A481A	MAP1B_uc010iyw.1_Silent_p.A498A|MAP1B_uc010iyx.1_Silent_p.A355A|MAP1B_uc010iyy.1_Silent_p.A355A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	481						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		CAAACCCTGCGGAGAAAATCA	0.463													A	71490625	G	A	71490625	2	1	253	1	0	0	0	0	0	0	0	1	9228	1103	39	1		1	MAP1B	5	71490625	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	699404	71490625	109424635	243	125841											
GFM2	84340	broad.mit.edu	37	chr5	74054702	74054702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttgtatatccggaataGtacaatattctttctgtggt	8	6	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:74054702G>A	uc003kdh.1	-	5	580	c.276C>T	c.(274-276)TAC>TAT	p.Y92Y	GFM2_uc003kdi.1_Silent_p.Y92Y|GFM2_uc010izj.1_Silent_p.Y124Y|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Silent_p.Y92Y|GFM2_uc010izl.1_Silent_p.Y92Y	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	92					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		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)		ATCCGGAATAGTACAATATTC	0.363													A	74054702	G	A	74054702	2	1	253	1	0	0	0	0	0	0	0	1	6342	1024	36	4		4	GFM2	5	74054702	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2564077	74054702	106860558	244	125842											
S100Z	170591	broad.mit.edu	37	chr5	76171212	76171212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagctcgagatggccatgGacaccatgattagaatcttc	9	12	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:76171212G>A	uc003kep.1	+	3	358	c.28G>A	c.(28-30)GAC>AAC	p.D10N	S100Z_uc003keq.3_Missense_Mutation_p.D10N	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	10							calcium ion binding			ovary(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		GATGGCCATGGACACCATGAT	0.532													A	76171212	G	A	76171212	3	1	253	1	0	0	0	0	1	0	0	0	13792	1174	41	4	30	4	S100Z	5	76171212	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2116510	76171212	104744048	245	125843											
CMYA5	202333	broad.mit.edu	37	chr5	79054697	79054697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggtttactgcatggaGgagccacaagatgatcaaga	11	7	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:79054697G>T	uc003kgc.2	+	7	11304	c.11232G>T	c.(11230-11232)GAG>GAT	p.E3744D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3744	Fibronectin type-III 1.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		ACTGCATGGAGGAGCCACAAG	0.373													T	79054697	G	T	79054697	3	4	253	1	0	0	0	0	1	0	0	0	3590	991	35	5	11258	5	CMYA5	5	79054697	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2883485	79054697	101860563	246	125844											
RASGRF2	5924	broad.mit.edu	37	chr5	80513294	80513294	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaaaatgagaatggTaggtataatttcataattag	7	4	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:80513294T>C	uc003kha.1	+	25	3552	c.3552_splice	c.e25+2	p.M1184_splice	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Splice_Site	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine						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			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		ATGAGAATGGTAGGTATAATT	0.338													C	80513294	T	C	80513294	5	2	253	1	0	0	0	0	0	0	1	0	13073	1652	57	3	3652	3	RASGRF2	5	80513294	Splice_Site	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1458597	80513294	100401966	247	125845											
VCAN	1462	broad.mit.edu	37	chr5	82816273	82816275	+	In_Frame_Del	DEL	AGA	AGA	-													agtccatttatgggaaaaacAgaagaagaagtcttctctgg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:82816273_82816275delAGA	uc003kii.3	+	7	2504_2506	c.2148_2150delAGA	c.(2146-2151)ACAGAA>ACA	p.E719del	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_In_Frame_Del_p.E719del|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	719	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		TGGGAAAAACAGAAGAAGAAGTC	0.369													-	82816275	AGA	-	82816273	7	5	253	1	0	1	0	1	0	0	0	0	17135	175	7	0	2170	0	VCAN	5	82816273	In_Frame_Del	DEL	AGA	TCGA-HJ-7597-01A-21D-2201-08	2302979	82816273	98098987	248	125846											
EFNA5	1946	broad.mit.edu	37	chr5	106717055	106717055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgccgcgggatggctcGgctgactcatgtacggtgtc	14	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:106717055G>A	uc003kol.2	-	5	870	c.588C>T	c.(586-588)GCC>GCT	p.A196A		NM_001962	NP_001953	P52803	EFNA5_HUMAN	ephrin-A5 precursor	196					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding				0		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGGATGGCTCGGCTGACTCAT	0.493													A	106717055	G	A	106717055	2	1	253	1	0	0	0	0	0	0	0	1	4954	1103	39	1		1	EFNA5	5	106717055	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	23900782	106717055	74198205	249	125847											
PJA2	9867	broad.mit.edu	37	chr5	108719145	108719145	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgacatatatggcagcGtctgtgtgaccagttcagta	11	8	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:108719145G>A	uc003kos.3	-	2	210	c.-10C>T	c.(-12--8)GACGC>GATGC			NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing						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			ovary(1)|skin(1)	2		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)		atatggcagcgtctgtgtgac	0													A	108719145	G	A	108719145	1	1	253	1	0	0	0	0	0	0	0	0	11962	1160	40	1		1	PJA2	5	108719145	Translation_Start_Site	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2002090	108719145	72196115	250	125848											
REEP5	7905	broad.mit.edu	37	chr5	112214491	112214493	+	In_Frame_Del	DEL	TCT	TCT	-													atccagtctggtttaggtgcTcttcttttcttcacccagta							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:112214490_112214492CTCT>C	uc003kqe.1	-	4	705_707	c.561_563AGAG>G	c.(559-564)aagagc>aaGc	p.S188del	SRP19_uc011cvu.2_Intron|REEP5_uc011cvw.1_In_Frame_Del_p.S161del|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_3'UTR|REEP5_uc011cvz.1_Non-coding_Transcript	NM_005669	NP_005660	Q00765	REEP5_HUMAN	Homo sapiens receptor accessory protein 5 (REEP5), mRNA.	188						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GGTTTAGGTGCTCTTCTTTTCTT	0.389													-	112214493	TCT	-	112214491	7	5	253	1	0	1	0	1	0	0	0	0	13208	1551	54	0	11	0	REEP5	5	112214491	In_Frame_Del	DEL	TCT	TCGA-HJ-7597-01A-21D-2201-08	3495346	112214491	68700769	251	125849											
FSTL4	23105	broad.mit.edu	37	chr5	132552921	132552921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccattaaagaggtgtacCtgtaggactttctgggcttg	11	8	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:132552921C>A	uc003kyn.1	-	13	1826	c.1608G>T	c.(1606-1608)CAG>CAT	p.Q536H	FSTL4_uc003kym.1_Missense_Mutation_p.Q185H	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	536						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGGTGTACCTGTAGGACTT	0.522													A	132552921	C	A	132552921	3	1	253	1	0	0	0	0	1	0	0	0	6079	695	24	5	936	5	FSTL4	5	132552921	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	20338430	132552921	48362339	252	125850											
CDC25C	995	broad.mit.edu	37	chr5	137622195	137622195	+	Frame_Shift_Del	DEL	C	C	-													tagacactcacattcgggggCccctctctgaggagaattca					rs66784649		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:137622195delC	uc003lcp.1	-	12	1422	c.1151delG	c.(1150-1152)GGCfs	p.G384fs	CDC25C_uc003lcq.1_Frame_Shift_Del_p.G311fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.G384fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.G401fs|CDC25C_uc003lcs.1_Frame_Shift_Del_p.G462fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	384	Rhodanese.				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			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATTCGGGGGCCCCTCTCTGA	0.478													-	137622195	C	-	137622195	7	5	253	1	0	1	0	1	0	0	0	0	3064	739	26	0	282	0	CDC25C	5	137622195	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	5069274	137622195	43293065	253	125851											
FAM53C	51307	broad.mit.edu	37	chr5	137677044	137677044	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgataaccctgatcactgAgcagctacagaagcagactc	8	12	1	5			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:137677044A>T	uc003lcv.2	+	2	490	c.20A>T	c.(19-21)GAG>GTG	p.E7V	CDC25C_uc011cyp.1_5'Flank|CDC25C_uc003lcs.1_5'Flank|FAM53C_uc003lcw.2_Missense_Mutation_p.E7V|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	7										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGATCACTGAGCAGCTACAG	0.502													T	137677044	A	T	137677044	3	4	253	1	0	0	0	0	1	0	0	0	5581	304	11	5	22	5	FAM53C	5	137677044	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	54849	137677044	43238216	254	125852											
LRRTM2	26045	broad.mit.edu	37	chr5	138209269	138209269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccgaccttggaaactGcccagccaggaggccagagc	11	16	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:138209269G>A	uc011cyz.1	-	2	1438	c.981C>T	c.(979-981)GGC>GGT	p.G327G	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.G193G|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	327	Extracellular (Potential).|LRRCT.					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTTGGAAACTGCCCAGCCAGG	0.537													A	138209269	G	A	138209269	2	1	253	1	0	0	0	0	0	0	0	1	9040	1306	46	2		2	LRRTM2	5	138209269	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	532225	138209269	42705991	255	125853											
PCDHA4	56144	broad.mit.edu	37	chr5	140186857	140186857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgggaggcagggaacGgtcagctccactactcggtc	14	13	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140186857G>A	uc003lhi.2	+	1	186	c.85G>A	c.(85-87)GGT>AGT	p.G29S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G29S|PCDHA4_uc011daa.1_Missense_Mutation_p.G29S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	29					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGGGAACGGTCAGCTCCA	0.632													A	140186857	G	A	140186857	3	1	253	1	0	0	0	0	1	0	0	0	11526	1116	39	1	87	1	PCDHA4	5	140186857	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1977588	140186857	40728403	256	125854											
PCDHA4	56144	broad.mit.edu	37	chr5	140188890	140188890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcattgccatctgcgcGgtgtccagccttttggtgct	11	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140188890G>A	uc003lhi.2	+	1	2219	c.2118G>A	c.(2116-2118)GCG>GCA	p.A706A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A706A|PCDHA4_uc011daa.1_Silent_p.A706A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTGCGCGGTGTCCAGCC	0.672													A	140188890	G	A	140188890	2	1	253	1	0	0	0	0	0	0	0	1	11526	1103	39	1		1	PCDHA4	5	140188890	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2033	140188890	40726370	257	125855											
PCDHA6	56142	broad.mit.edu	37	chr5	140209767	140209767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgctggtggatgtcaaCgtgtacctgatcatcgccat	13	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140209767C>T	uc003lho.2	+	1	2118	c.2091C>T	c.(2089-2091)AAC>AAT	p.N697N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.N697N	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	697	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGTCAACGTGTACCTGA	0.682													T	140209767	C	T	140209767	2	4	253	1	0	0	0	0	0	0	0	1	11528	535	19	1		1	PCDHA6	5	140209767	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	20877	140209767	40705493	258	125856											
PCDHA8	56140	broad.mit.edu	37	chr5	140221046	140221046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggcaccttcgtgggccGgatcgcgcaggacctggggc	16	14	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140221046G>A	uc003lhs.2	+	1	140	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R47Q	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	47	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGGATCGCGCAG	0.662													A	140221046	G	A	140221046	3	1	253	1	0	0	0	0	1	0	0	0	11530	1116	39	1	142	1	PCDHA8	5	140221046	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	11279	140221046	40694214	259	125857											
PCDHA11	56138	broad.mit.edu	37	chr5	140249968	140249968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactggtggtgactgcgcGggatgggggttcgccttctc	17	9	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140249968G>A	uc003lia.2	+	1	2138	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R427Q	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTGCGCGGGATGGGGGT	0.617													A	140249968	G	A	140249968	3	1	253	1	0	0	0	0	1	0	0	0	11521	1116	39	1	1282	1	PCDHA11	5	140249968	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	28922	140249968	40665292	260	125858											
PCDHA11	56138	broad.mit.edu	37	chr5	140250122	140250122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcttcacagtgtcggcGcgggacgcggacgcgcagga	15	13	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140250122G>A	uc003lia.2	+	1	2292	c.1434G>A	c.(1432-1434)GCG>GCA	p.A478A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A478A	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	478	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTCGGCGCGGGACGCGG	0.667													A	140250122	G	A	140250122	2	1	253	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA11	5	140250122	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	154	140250122	40665138	261	125859											
PCDHA12	56137	broad.mit.edu	37	chr5	140256792	140256792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcaggaggcgcagttagcGagttggtaccgcggtcggtg	19	9	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140256792G>A	uc003lic.2	+	1	1862	c.1735G>A	c.(1735-1737)GAG>AAG	p.E579K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.E579K	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	579	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTTAGCGAGTTGGTACC	0.667													A	140256792	G	A	140256792	3	1	253	1	0	0	0	0	1	0	0	0	11522	1059	37	1	1737	1	PCDHA12	5	140256792	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6670	140256792	40658468	262	125860											
PCDHB2	56133	broad.mit.edu	37	chr5	140475679	140475679	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggacacccaggctgaaaacCgagcacaacataaccgtgct	10	13	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140475679C>A	uc003lil.2	+	1	1443	c.1305C>A	c.(1303-1305)ACC>ACA	p.T435T	PCDHB2_uc003lim.1_Silent_p.T96T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	435	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGAAAACCGAGCACAACA	0.577													A	140475679	C	A	140475679	2	1	253	1	0	0	0	0	0	0	0	1	11542	639	23	5		5	PCDHB2	5	140475679	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	218887	140475679	40439581	263	125861											
PCDHB7	56129	broad.mit.edu	37	chr5	140553577	140553577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtgctccatccaggaCgatgtccccttcatcctgaa	8	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140553577C>T	uc003lit.2	+	1	1335	c.1161C>T	c.(1159-1161)GAC>GAT	p.D387D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	387	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCAGGACGATGTCCCCT	0.473													T	140553577	C	T	140553577	2	4	253	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140553577	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	77898	140553577	40361683	264	125862											
TAF7	6879	broad.mit.edu	37	chr5	140699362	140699362	+	Frame_Shift_Del	DEL	T	T	-													atcagctgtcttgtaaaaagTttttttatcaatggttttca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140699361_140699361GT>G	uc003ljg.3	-	0	991	c.251_251AC>C	c.(250-252)actfs	p.T84fs		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	84					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)			CTTGTAAAAAGTTTTTTTATC	0.443													-	140699362	T	-	140699362	7	5	253	1	0	1	0	1	0	0	0	0	15529	1725	60	0	803	0	TAF7	5	140699362	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	145785	140699362	40215898	265	125863											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774370	140774370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgctcaccgtagccGtggctgacagcatccccgaa	10	16	2	1	rs143444747	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:140774370G>A	uc003lkd.1	+	1	2888	c.1990G>A	c.(1990-1992)GTG>ATG	p.V664M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V664M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTAGCCGTGGCTGACAG	0.627													A	140774370	G	A	140774370	3	1	253	1	0	0	0	0	1	0	0	0	11560	1145	40	1	1992	1	PCDHGA8	5	140774370	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	75008	140774370	40140890	266	125864											
PCDH12	51294	broad.mit.edu	37	chr5	141325097	141325097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgagagccgccgcagcGcctcggaggcggcctccacg	15	17	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:141325097G>A	uc003llx.2	-	4	4615	c.3404C>T	c.(3403-3405)GCG>GTG	p.A1135V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1135	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCGCAGCGCCTCGGAGGC	0.647													A	141325097	G	A	141325097	3	1	253	1	0	0	0	0	1	0	0	0	11510	1087	38	1	154	1	PCDH12	5	141325097	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	550727	141325097	39590163	267	125865											
SPINK5	11005	broad.mit.edu	37	chr5	147465986	147465986	+	Frame_Shift_Del	DEL	A	A	-													agctgaattgtgatgattttAaaaaaggagaaagagatggg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:147465985_147465985TA>T	uc003lox.2	+	4	373	c.300_300TA>T	c.(298-300)tttfs	p.F100fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Del_p.F72fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.F81fs|SPINK5_uc003low.2_Frame_Shift_Del_p.F100fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.F100fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	100	Kazal-like 2.				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)			GTGATGATTTTAAAAAAGGAG	0.343													-	147465986	A	-	147465986	7	5	253	1	0	1	0	1	0	0	0	0	15061	363	13	0	319	0	SPINK5	5	147465986	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	6140889	147465986	33449274	268	125866											
PDGFRB	5159	broad.mit.edu	37	chr5	149515165	149515165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatcggtctccagtccaCgggagtcattgtgggtgcaa	13	11	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:149515165C>T	uc003lro.2	-	3	786	c.317G>A	c.(316-318)CGT>CAT	p.R106H	PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.R106H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	106	Extracellular (Potential).|Ig-like C2-type 1.				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	CTCCAGTCCACGGGAGTCATT	0.577			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149515165	C	T	149515165	3	4	253	1	0	0	0	0	1	0	0	0	11662	536	19	1	3087	1	PDGFRB	5	149515165	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2049179	149515165	31400095	269	125867											
GRIA1	2890	broad.mit.edu	37	chr5	153030051	153030051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggactgtgaatcagaaCgcctcaatgctatcttgggc	12	9	3	2	rs146865938	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:153030051C>T	uc003lva.3	+	4	987	c.622C>T	c.(622-624)CGC>TGC	p.R208C	GRIA1_uc003luy.3_Missense_Mutation_p.R208C|GRIA1_uc003luz.3_Missense_Mutation_p.R113C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R128C|GRIA1_uc011dcx.1_Missense_Mutation_p.R139C|GRIA1_uc011dcy.1_Missense_Mutation_p.R218C|GRIA1_uc011dcz.1_Missense_Mutation_p.R218C|GRIA1_uc010jia.1_Missense_Mutation_p.R188C	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	208	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	TGAATCAGAACGCCTCAATGC	0.527													T	153030051	C	T	153030051	3	4	253	1	0	0	0	0	1	0	0	0	6767	536	19	1	636	1	GRIA1	5	153030051	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3514886	153030051	27885209	270	125868											
GEMIN5	25929	broad.mit.edu	37	chr5	154272096	154272096	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcaagtcatggcaaAtgtgaagcaggagctggaga	15	7	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:154272096A>T	uc003lvx.3	-	25	3694	c.3611T>A	c.(3610-3612)ATT>AAT	p.I1204N	GEMIN5_uc011ddk.1_Missense_Mutation_p.I1203N	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1204					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCATGGCAAATGTGAAGCAG	0.577													T	154272096	A	T	154272096	3	4	253	1	0	0	0	0	1	0	0	0	6331	101	4	5	931	5	GEMIN5	5	154272096	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1242045	154272096	26643164	271	125869											
PWWP2A	114825	broad.mit.edu	37	chr5	159520771	159520771	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacatttttcgtttgggtcGcttaattttccgaggaggtg	12	6	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:159520771G>A	uc011ded.1	-	2	943	c.886C>T	c.(886-888)CGA>TGA	p.R296*	PWWP2A_uc003lxv.3_Nonsense_Mutation_p.R296*|PWWP2A_uc011dec.1_Nonsense_Mutation_p.R296*	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	296											0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTTTGGGTCGCTTAATTTTC	0.423													A	159520771	G	A	159520771	4	1	253	1	0	0	0	0	0	1	0	0	12845	1095	38	1	1527	1	PWWP2A	5	159520771	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5248675	159520771	21394489	272	125870											
MAT2B	27430	broad.mit.edu	37	chr5	162945289	162945289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcattggccaacgaAcaccatttcgaattggaatc	9	11	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:162945289A>G	uc003lzk.2	+	7	1033	c.925A>G	c.(925-927)ACA>GCA	p.T309A	MAT2B_uc003lzj.2_Missense_Mutation_p.T298A|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Missense_Mutation_p.T49A	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	309					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGCCAACGAACACCATTTCG	0.433													G	162945289	A	G	162945289	3	3	253	1	0	0	0	0	1	0	0	0	9331	43	2	3	985	3	MAT2B	5	162945289	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	3424518	162945289	17969971	273	125871											
DOCK2	1794	broad.mit.edu	37	chr5	169108866	169108866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgataaaatcacagagCgtatcaaagaagaaatggtg	9	6	2	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:169108866C>T	uc003maf.2	+	7	669	c.589C>T	c.(589-591)CGT>TGT	p.R197C	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	197					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			ovary(5)|pancreas(2)	7	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)			AATCACAGAGCGTATCAAAGA	0.383													T	169108866	C	T	169108866	3	4	253	1	0	0	0	0	1	0	0	0	4687	768	27	1	615	1	DOCK2	5	169108866	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6163577	169108866	11806394	274	125872											
RGS14	10636	broad.mit.edu	37	chr5	176793219	176793219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggccagggcgagggcCgcggcagctctctcagcatc	15	16	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:176793219C>T	uc003mgf.2	+	3	291	c.109C>T	c.(109-111)CGC>TGC	p.R37C	RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	37					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	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)			GGGCGAGGGCCGCGGCAGCTC	0.697													T	176793219	C	T	176793219	3	4	253	1	0	0	0	0	1	0	0	0	13297	652	23	1	119	1	RGS14	5	176793219	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	7684353	176793219	4122041	275	125873											
SQSTM1	8878	broad.mit.edu	37	chr5	179263532	179263532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctcctgcagaccaagaActatgacatcggagcggctc	11	13	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:179263532A>G	uc003mkw.3	+	8	1357	c.1262A>G	c.(1261-1263)AAC>AGC	p.N421S	SQSTM1_uc011dgr.1_Missense_Mutation_p.N337S|SQSTM1_uc011dgs.1_Missense_Mutation_p.N337S|SQSTM1_uc003mkv.3_Missense_Mutation_p.T338A|SQSTM1_uc003mkx.2_Missense_Mutation_p.N337S	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	421	Interaction with NTRK1 (By similarity).|UBA.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGACCAAGAACTATGACATC	0.592									Paget_Disease_of_Bone				G	179263532	A	G	179263532	3	3	253	1	0	0	0	0	1	0	0	0	15129	43	2	3	1292	3	SQSTM1	5	179263532	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2470313	179263532	1651728	276	125874											
GFPT2	9945	broad.mit.edu	37	chr5	179734305	179734305	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacttccttgatcagctcTgggccatgcacggagcagag	12	12	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:179734305T>C	uc003mlw.1	-	16	1645	c.1547_splice	c.e16-1	p.E516_splice		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 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			ovary(1)|skin(1)	2	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)	TGATCAGCTCTGGGCCATGCA	0.537													C	179734305	T	C	179734305	5	2	253	1	0	0	0	0	0	0	1	0	6346	1594	55	3	519	3	GFPT2	5	179734305	Splice_Site	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	470773	179734305	1180955	277	125875											
CNOT6	57472	broad.mit.edu	37	chr5	179992921	179992921	+	Frame_Shift_Del	DEL	A	A	-													cgctaaactgggactacaggAaaaaggccattattcaagaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr5:179992921delA	uc003mlx.2	+	7	1010	c.661delA	c.(661-663)AAAfs	p.K221fs	CNOT6_uc010jld.2_Frame_Shift_Del_p.K221fs|CNOT6_uc010jle.2_Frame_Shift_Del_p.K216fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	221					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				0	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)		GGACTACAGGAAAAAGGCCAT	0.418													-	179992921	A	-	179992921	7	5	253	1	0	1	0	1	0	0	0	0	3622	247	9	0	683	0	CNOT6	5	179992921	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	258616	179992921	922339	278	125876											
EXOC2	55770	broad.mit.edu	37	chr6	576834	576834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcccaacactgagggaCgtgtatcattatcaagatcc	10	10	2	2	rs145867129		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:576834C>T	uc003mtd.2	-	12	1375	c.1241G>A	c.(1240-1242)CGT>CAT	p.R414H	EXOC2_uc003mte.2_Missense_Mutation_p.R414H|EXOC2_uc011dho.1_Missense_Mutation_p.R9H	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	414					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	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)		CACTGAGGGACGTGTATCATT	0.502													T	576834	C	T	576834	3	4	253	1	0	0	0	0	1	0	0	0	5302	536	19	1	1601	1	EXOC2	6	576834	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08		576834	170538233	279	125877											
C6orf146	222826	broad.mit.edu	37	chr6	4073578	4073578	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcccttgtttactattcTgatgacagaaaaataatggg	8	6	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:4073578T>G	uc003mvx.2	-	6	575	c.235_splice	c.e6-1	p.N79_splice	C6orf146_uc010jnq.1_Splice_Site|C6orf146_uc003mvy.2_Splice_Site_p.N16_splice	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826											ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TTTACTATTCTGATGACAGAA	0.303													G	4073578	T	G	4073578	5	3	253	1	0	0	0	0	0	0	1	0	2335	1594	55	5	1301	5	C6orf146	6	4073578	Splice_Site	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	3496744	4073578	167041489	280	125878											
PECI	10455	broad.mit.edu	37	chr6	4125528	4125528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatagcccaaggagggtgaCggagatgcccacagctggac	15	10	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:4125528C>T	uc003mwf.2	-	7	788	c.751G>A	c.(751-753)GTC>ATC	p.V251I	C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_3'UTR|C6orf201_uc003mwb.3_RNA|PECI_uc003mwc.2_Missense_Mutation_p.V84I|PECI_uc003mwd.2_Missense_Mutation_p.V221I|PECI_uc003mwe.2_Missense_Mutation_p.V98I|PECI_uc010jnr.1_Intron	NM_206836	NP_996667	O75521	ECI2_HUMAN	peroxisomal D3,D2-enoyl-CoA isomerase isoform 2	251	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding				0	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGGAGGGTGACGGAGATGCCC	0.493													T	4125528	C	T	4125528	3	4	253	1	0	0	0	0	1	0	0	0	11716	536	19	1	449	1	PECI	6	4125528	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	51950	4125528	166989539	281	125879											
CD83	9308	broad.mit.edu	37	chr6	14131847	14131847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaatggttctttcgacGcccccaatgaaaggccctat	9	12	1	1	rs147342996		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:14131847G>A	uc003nbi.2	+	3	428	c.250G>A	c.(250-252)GCC>ACC	p.A84T	CD83_uc003nbh.2_Missense_Mutation_p.A84T	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	84	Extracellular (Potential).|Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TTCTTTCGACGCCCCCAATGA	0.542													A	14131847	G	A	14131847	3	1	253	1	0	0	0	0	1	0	0	0	3041	1087	38	1	260	1	CD83	6	14131847	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	10006319	14131847	156983220	282	125880											
NHLRC1	378884	broad.mit.edu	37	chr6	18122356	18122356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctctccaaactgatgcGcgcatcctccccctgagtca	6	18	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:18122356G>A	uc003ncl.1	-	1	496	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	161	NHL 2.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AAACTGATGCGCGCATCCTCC	0.602													A	18122356	G	A	18122356	3	1	253	1	0	0	0	0	1	0	0	0	10405	1087	38	1	709	1	NHLRC1	6	18122356	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3990509	18122356	152992711	283	125881											
DEK	7913	broad.mit.edu	37	chr6	18237613	18237613	+	Frame_Shift_Del	DEL	T	T	-													aatgttatttctaacataccTtttttggaactgttttgatt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:18237613delT	uc003ncr.1	-	8	1090	c.897delA	c.(895-897)AAAfs	p.K299fs	DEK_uc011djf.1_Frame_Shift_Del_p.K265fs|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	299					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			kidney(1)	1	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)			CTAACATACCTTTTTTGGAAC	0.313			T	NUP214	AML								-	18237613	T	-	18237613	7	5	253	1	0	1	0	1	0	0	0	0	4424	1623	56	0	246	0	DEK	6	18237613	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	115257	18237613	152877454	284	125882											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200079	26200079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagggagatccagacggCcgtacgcctgctgctgcccg	13	16	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:26200079C>T	uc003ngx.2	+	1	293	c.293C>T	c.(292-294)GCC>GTC	p.A98V	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	98					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				ATCCAGACGGCCGTACGCCTG	0.597													T	26200079	C	T	26200079	3	4	253	1	0	0	0	0	1	0	0	0	7145	739	26	2	295	2	HIST1H2BF	6	26200079	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	7962466	26200079	144914988	285	125883											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217297	26217297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttccagttggccgtgtgcAccgcctcctccgcaaaggca	11	15	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:26217297A>G	uc003nha.1	+	1	150	c.95A>G	c.(94-96)CAC>CGC	p.H32R	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	32					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				GGCCGTGTGCACCGCCTCCTC	0.597													G	26217297	A	G	26217297	3	3	253	1	0	0	0	0	1	0	0	0	7132	159	6	3	97	3	HIST1H2AE	6	26217297	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	17218	26217297	144897770	286	125884											
DDR1	780	broad.mit.edu	37	chr6	30856514	30856514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatcaggagctatgggacCagaggccctgtcatctttac	13	10	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:30856514C>T	uc003nrr.2	+	3	267	c.8C>T	c.(7-9)CCA>CTA	p.P3L	DDR1_uc010jse.2_Missense_Mutation_p.P3L|DDR1_uc003nrq.2_Missense_Mutation_p.P3L|DDR1_uc003nrs.2_Missense_Mutation_p.P3L|DDR1_uc003nrt.2_Missense_Mutation_p.P3L|DDR1_uc011dms.1_Missense_Mutation_p.P21L|DDR1_uc011dmt.1_Missense_Mutation_p.P29L|DDR1_uc003nru.2_Missense_Mutation_p.P3L|DDR1_uc011dmu.1_Missense_Mutation_p.P3L|DDR1_uc003nrv.2_Missense_Mutation_p.P3L|DDR1_uc003nrw.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	3					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GCTATGGGACCAGAGGCCCTG	0.542													T	30856514	C	T	30856514	3	4	253	1	0	0	0	0	1	0	0	0	4336	594	21	4	10	4	DDR1	6	30856514	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4639217	30856514	140258553	287	125885											
VARS2	57176	broad.mit.edu	37	chr6	30887544	30887544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccttcagcatctacacGggcgacagcttcgtcacccc	7	18	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:30887544G>A	uc003nsc.1	+	11	1716	c.1084G>A	c.(1084-1086)GGG>AGG	p.G362R	VARS2_uc011dmx.1_Missense_Mutation_p.G362R|VARS2_uc011dmy.1_Missense_Mutation_p.G222R|VARS2_uc011dmz.1_Missense_Mutation_p.G392R|VARS2_uc011dna.1_Missense_Mutation_p.G362R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	362					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						GCATCTACACGGGCGACAGCT	0.587													A	30887544	G	A	30887544	3	1	253	1	0	0	0	0	1	0	0	0	17121	1116	39	1	1220	1	VARS2	6	30887544	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	31030	30887544	140227523	288	125886											
C6orf27	80737	broad.mit.edu	37	chr6	31733790	31733790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgaatctgggacctccAgccacaggcggccccaggcc	12	18	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:31733790A>G	uc011dog.1	-	16	2607	c.2369T>C	c.(2368-2370)CTG>CCG	p.L790P		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	790						extracellular region				ovary(3)	3						TGGGACCTCCAGCCACAGGCG	0.622													G	31733790	A	G	31733790	3	3	253	1	0	0	0	0	1	0	0	0	2362	188	7	3	313	3	C6orf27	6	31733790	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	846246	31733790	139381277	289	125887											
C6orf48	50854	broad.mit.edu	37	chr6	31807422	31807422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcaccttattgggggAaaaatgcctgaaaattaggg	12	6	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:31807422A>G	uc003rjx.1	+	5	723	c.210A>G	c.(208-210)GGA>GGG	p.G70G	C6orf48_uc003rjy.1_Silent_p.G70G|C6orf48_uc003rjz.1_RNA	NM_001040437	NP_001035527	Q9UBA6	G8_HUMAN	G8 protein	70											0						TTATTGGGGGAAAAATGCCTG	0.368													G	31807422	A	G	31807422	2	3	253	1	0	0	0	0	0	0	0	1	2365	233	9	3		3	C6orf48	6	31807422	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	73632	31807422	139307645	290	125888											
TNXB	7148	broad.mit.edu	37	chr6	32063535	32063535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacacactggcctgcccGgcacagttcccggggcccgc	11	19	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:32063535G>A	uc003nzl.2	-	3	2297	c.2095C>T	c.(2095-2097)CGG>TGG	p.R699W		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	699	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TGGCCTGCCCGGCACAGTTCC	0.682													A	32063535	G	A	32063535	3	1	253	1	0	0	0	0	1	0	0	0	16343	1115	39	1	12786	1	TNXB	6	32063535	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	256113	32063535	139051532	291	125889											
GPSM3	63940	broad.mit.edu	37	chr6	32159934	32159934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggggtacctgtgtggcGggtccctggaggaggagggg	23	6	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:32159934G>A	uc003oay.3	-	2	529	c.136C>T	c.(136-138)CGC>TGC	p.R46C	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Silent_p.P35P|GPSM3_uc003oaz.2_Missense_Mutation_p.R46C	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	46					signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CCTGTGTGGCGGGTCCCTGGA	0.662													A	32159934	G	A	32159934	3	1	253	1	0	0	0	0	1	0	0	0	6736	1116	39	1	358	1	GPSM3	6	32159934	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	96399	32159934	138955133	292	125890											
NOTCH4	4855	broad.mit.edu	37	chr6	32187491	32187491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtgtagccaggtggaCagaggcagttgaaggagcca	16	8	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:32187491C>T	uc003obb.2	-	8	1527	c.1388G>A	c.(1387-1389)TGT>TAT	p.C463Y	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.C463Y	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	463	EGF-like 11; calcium-binding (Potential).|Extracellular (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GCCAGGTGGACAGAGGCAGTT	0.607													T	32187491	C	T	32187491	3	4	253	1	0	0	0	0	1	0	0	0	10551	478	17	4	4715	4	NOTCH4	6	32187491	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	27557	32187491	138927576	293	125891											
ITPR3	3710	broad.mit.edu	37	chr6	33623607	33623607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagtactggaaggccaaGcagactaagcaggacaagga	13	8	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:33623607G>A	uc011drk.1	+	3	444	c.225G>A	c.(223-225)AAG>AAA	p.K75K		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	75	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGAAGGCCAAGCAGACTAAGC	0.562													A	33623607	G	A	33623607	2	1	253	1	0	0	0	0	0	0	0	1	7922	962	34	2		2	ITPR3	6	33623607	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1436116	33623607	137491460	294	125892											
NUDT3	11165	broad.mit.edu	37	chr6	34309655	34309655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctcctcacagacttcaCgaactgctgccacacttggc	6	16	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:34309655C>T	uc003ojl.2	-	2	496	c.194G>A	c.(193-195)CGT>CAT	p.R65H		NM_006703	NP_006694	O95989	NUDT3_HUMAN	nudix-type motif 3	65	Nudix box.|Nudix hydrolase.				cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding				0						ACAGACTTCACGAACTGCTGC	0.527													T	34309655	C	T	34309655	3	4	253	1	0	0	0	0	1	0	0	0	10740	536	19	1	340	1	NUDT3	6	34309655	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	686048	34309655	136805412	295	125893											
SLC26A8	116369	broad.mit.edu	37	chr6	35919042	35919042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggcaaacagcacggcGtcgtgaacgctgaggaacag	14	10	0	2	rs143363265		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:35919042G>A	uc003olm.2	-	19	2481	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.D372D|SLC26A8_uc003oln.2_Silent_p.D790D|SLC26A8_uc003oll.2_Silent_p.D685D	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	790	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				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			ovary(2)	2						ACAGCACGGCGTCGTGAACGC	0.488													A	35919042	G	A	35919042	2	1	253	1	0	0	0	0	0	0	0	1	14523	1136	40	1		1	SLC26A8	6	35919042	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1609387	35919042	135196025	296	125894											
PI16	221476	broad.mit.edu	37	chr6	36929281	36929281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccacttctgtgagaagCtccagggtgttgaggagacc	13	10	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:36929281C>T	uc003ona.2	+	3	776	c.448C>T	c.(448-450)CTC>TTC	p.L150F	PI16_uc003omz.1_Missense_Mutation_p.L150F|PI16_uc003onb.2_Missense_Mutation_p.L150F|PI16_uc011dts.1_5'UTR	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	150	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						CTGTGAGAAGCTCCAGGGTGT	0.577													T	36929281	C	T	36929281	3	4	253	1	0	0	0	0	1	0	0	0	11869	797	28	2	458	2	PI16	6	36929281	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1010239	36929281	134185786	297	125895											
RNF8	9025	broad.mit.edu	37	chr6	37336726	37336726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcatcatgagcagaaagCctcaaactcttcagcatctc	7	12	6	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:37336726C>T	uc003onq.3	+	3	900	c.707C>T	c.(706-708)GCC>GTC	p.A236V	RNF8_uc003onr.3_Missense_Mutation_p.A236V|RNF8_uc011dtx.1_Missense_Mutation_p.A168V	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	236					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			ovary(1)	1						GAGCAGAAAGCCTCAAACTCT	0.473													T	37336726	C	T	37336726	3	4	253	1	0	0	0	0	1	0	0	0	13500	739	26	2	717	2	RNF8	6	37336726	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	407445	37336726	133778341	298	125896											
DNAH8	1769	broad.mit.edu	37	chr6	38875809	38875809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaagagggagctaccTcgccatcctcctacctttga	10	12	0	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:38875809T>C	uc003ooe.1	+	62	9375	c.8775T>C	c.(8773-8775)CCT>CCC	p.P2925P	uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGGAGCTACCTCGCCATCCTC	0.388													C	38875809	T	C	38875809	2	2	253	1	0	0	0	0	0	0	0	1	4607	1538	54	3		3	DNAH8	6	38875809	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1539083	38875809	132239258	299	125897											
KIF6	221458	broad.mit.edu	37	chr6	39325124	39325124	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaatggcttcgtgtgatcGagtgaattcactgctggaga	13	6	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:39325124G>A	uc003oot.2	-	19	2204	c.2109C>T	c.(2107-2109)CTC>CTT	p.L703L	KIF6_uc003oos.2_Silent_p.L154L|KIF6_uc010jwz.1_Silent_p.L78L|KIF6_uc010jxa.1_Silent_p.L494L|KIF6_uc011dua.1_Silent_p.L686L|KIF6_uc010jxb.1_Silent_p.L647L	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	703					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TCGTGTGATCGAGTGAATTCA	0.438													A	39325124	G	A	39325124	2	1	253	1	0	0	0	0	0	0	0	1	8308	1045	37	1		1	KIF6	6	39325124	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	449315	39325124	131789943	300	125898											
CNPY3	10695	broad.mit.edu	37	chr6	42905564	42905564	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttctgcagaggtggctgAcctcaagaagcaggtacagg	14	9	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:42905564A>C	uc003ota.3	+	4	931	c.482A>C	c.(481-483)GAC>GCC	p.D161A	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.D161A|CNPY3_uc003otc.3_Missense_Mutation_p.D36A|CNPY3_uc003otb.3_Missense_Mutation_p.D72A	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	161	Saposin B-type.|Potential.				innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|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)			GAGGTGGCTGACCTCAAGAAG	0.567													C	42905564	A	C	42905564	3	2	253	1	0	0	0	0	1	0	0	0	3629	275	10	5	496	5	CNPY3	6	42905564	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	3580440	42905564	128209503	301	125899											
MEP1A	4224	broad.mit.edu	37	chr6	46801266	46801266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactacctcgaagtcgcacAcatctccaggtgggtggtgt	11	12	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:46801266A>G	uc010jzh.1	+	11	1642	c.1600A>G	c.(1600-1602)ACA>GCA	p.T534A	MEP1A_uc011dwg.1_Missense_Mutation_p.T256A|MEP1A_uc011dwh.1_Missense_Mutation_p.T562A|MEP1A_uc011dwi.1_Missense_Mutation_p.T434A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	534	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			GAAGTCGCACACATCTCCAGG	0.507													G	46801266	A	G	46801266	3	3	253	1	0	0	0	0	1	0	0	0	9475	159	6	3	1642	3	MEP1A	6	46801266	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	3895702	46801266	124313801	302	125900											
TMEM14A	28978	broad.mit.edu	37	chr6	52546638	52546638	+	Frame_Shift_Del	DEL	T	T	-													tccgtctttgattgctggtcTttttgttggatgtttggccg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:52546637_52546637CT>C	uc003pax.3	+	2	273	c.97_97CT>C	c.(97-99)cttfs	p.L33fs		NM_014051	NP_054770	Q9Y6G1	TM14A_HUMAN	Homo sapiens transmembrane protein 14A (TMEM14A), mRNA.	33						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					GATTGCTGGTCTTTTTGTTGG	0.408													-	52546638	T	-	52546638	7	5	253	1	0	1	0	1	0	0	0	0	16060	1609	56	0	104	0	TMEM14A	6	52546638	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	5745372	52546638	118568429	303	125901											
KLHL31	401265	broad.mit.edu	37	chr6	53516564	53516566	+	In_Frame_Del	DEL	CTT	CTT	-													cactggatgcacttcttgtaCttcttctcgccctcgttcca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:53516563_53516565ACTT>A	uc003pcb.4	-	2	1877_1879	c.1736_1738AAGT>T	c.(1735-1740)aagtac>aTac	p.579_580KY>I	AX746830_uc003pcc.1_5'UTR	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CACTTCTTGTACTTCTTCTCGCC	0.67											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	53516566	CTT	-	53516564	7	5	253	1	0	1	0	1	0	0	0	0	8385	564	20	0	171	0	KLHL31	6	53516564	In_Frame_Del	DEL	CTT	TCGA-HJ-7597-01A-21D-2201-08	969926	53516564	117598503	304	125902											
KIAA1586	57691	broad.mit.edu	37	chr6	56917622	56917622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcaaaggaaccacatttcGagtatattgaacaaccaatc	7	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:56917622G>A	uc003pdj.2	+	4	495	c.325G>A	c.(325-327)GAG>AAG	p.E109K	KIAA1586_uc011dxm.1_Missense_Mutation_p.E82K	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	109							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACCACATTTCGAGTATATTGA	0.333													A	56917622	G	A	56917622	3	1	253	1	0	0	0	0	1	0	0	0	8245	1059	37	1	339	1	KIAA1586	6	56917622	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3401058	56917622	114197445	305	125903											
EYS	346007	broad.mit.edu	37	chr6	66204803	66204803	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaactgctgtttcactgtCacatttagtcgaagtcccag	8	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:66204803C>G	uc011dxu.1	-	4	1039	c.501G>C	c.(499-501)GTG>GTC	p.V167V	EYS_uc003peq.2_Silent_p.V167V|EYS_uc003per.1_Silent_p.V167V|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	167					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						GTTTCACTGTCACATTTAGTC	0.433													G	66204803	C	G	66204803	2	3	253	1	0	0	0	0	0	0	0	1	5332	813	29	5		5	EYS	6	66204803	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	9287181	66204803	104910264	306	125904											
ZNF292	23036	broad.mit.edu	37	chr6	87970954	87970954	+	Frame_Shift_Del	DEL	A	A	-													tttgaagagagttaataaggAaaaaaatgtctcacaaaata							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:87970954delA	uc003plm.3	+	8	7648	c.7607delA	c.(7606-7608)GAAfs	p.E2536fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		GTTAATAAGGAAAAAAATGTC	0.343													-	87970954	A	-	87970954	7	5	253	1	0	1	0	1	0	0	0	0	17823	246	9	0	7637	0	ZNF292	6	87970954	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	21766151	87970954	83144113	307	125905											
SOBP	55084	broad.mit.edu	37	chr6	107827633	107827633	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcataaagccaccagcaggTaagtcactactggtgttttc	8	10	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:107827633T>C	uc003prx.2	+	3	925	c.421_splice	c.e3+2	p.E141_splice	SOBP_uc003prw.1_Splice_Site_p.E141_splice	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog								metal ion binding			ovary(1)	1		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)		CACCAGCAGGTAAGTCACTAC	0.393													C	107827633	T	C	107827633	5	2	253	1	0	0	0	0	0	0	1	0	14912	1652	57	3	433	3	SOBP	6	107827633	Splice_Site	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	19856679	107827633	63287434	308	125906											
SCML4	256380	broad.mit.edu	37	chr6	108067962	108067962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgctggtgggcgcagtCgatgcaggcttggacggcct	16	11	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:108067962C>T	uc010kdf.2	-	4	669	c.418G>A	c.(418-420)GAC>AAC	p.D140N	SCML4_uc003prz.3_Missense_Mutation_p.D82N|SCML4_uc011eam.1_Missense_Mutation_p.D140N|SCML4_uc003psa.3_Missense_Mutation_p.D111N	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		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)		TGGGCGCAGTCGATGCAGGCT	0.642													T	108067962	C	T	108067962	3	4	253	1	0	0	0	0	1	0	0	0	13911	884	31	1	846	1	SCML4	6	108067962	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	240329	108067962	63047105	309	125907											
SMPD2	6610	broad.mit.edu	37	chr6	109764279	109764279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcattgactacgtgcttTacaaggtcaggctcctccct	8	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:109764279T>C	uc003pti.2	+	8	1118	c.724T>C	c.(724-726)TAC>CAC	p.Y242H	PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	242					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		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;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTACGTGCTTTACAAGGTCAG	0.498													C	109764279	T	C	109764279	3	2	253	1	0	0	0	0	1	0	0	0	14805	1754	61	3	754	3	SMPD2	6	109764279	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1696317	109764279	61350788	310	125908											
LAMA4	3910	broad.mit.edu	37	chr6	112454679	112454679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatatctaggggaaggtgtgCtctgagggccctggaaaaga	16	6	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:112454679C>A	uc003pvu.2	-	27	3877	c.3568G>T	c.(3568-3570)GCA>TCA	p.A1190S	LAMA4_uc003pvv.2_Missense_Mutation_p.A1183S|LAMA4_uc003pvt.2_Missense_Mutation_p.A1183S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1190	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		GGAAGGTGTGCTCTGAGGGCC	0.448													A	112454679	C	A	112454679	3	1	253	1	0	0	0	0	1	0	0	0	8608	797	28	5	1955	5	LAMA4	6	112454679	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2690400	112454679	58660388	311	125909											
C6orf204	387119	broad.mit.edu	37	chr6	118953649	118953649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacaggaagttccaatgcCagtgtctccactgtcagaag	10	10	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:118953649C>T	uc003pxz.1	-	2	787	c.199G>A	c.(199-201)GGC>AGC	p.G67S	C6orf204_uc003pya.1_Missense_Mutation_p.G70S|C6orf204_uc003pyb.2_Missense_Mutation_p.G67S|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.G70S|C6orf204_uc011ebl.1_5'UTR	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	67						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		GTTCCAATGCCAGTGTCTCCA	0.403													T	118953649	C	T	118953649	3	4	253	1	0	0	0	0	1	0	0	0	2353	594	21	4	2320	4	C6orf204	6	118953649	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6498970	118953649	52161418	312	125910											
EYA4	2070	broad.mit.edu	37	chr6	133783519	133783519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctcaaacaatgtctGcctatgcaggccagactcag	9	13	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:133783519G>A	uc003qec.3	+	8	942	c.484G>A	c.(484-486)GCC>ACC	p.A162T	EYA4_uc011ecq.1_Missense_Mutation_p.A108T|EYA4_uc011ecr.1_Missense_Mutation_p.A108T|EYA4_uc003qed.3_Missense_Mutation_p.A162T|EYA4_uc003qee.3_Missense_Mutation_p.A139T|EYA4_uc011ecs.1_Missense_Mutation_p.A162T|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	162					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			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACAATGTCTGCCTATGCAGG	0.468													A	133783519	G	A	133783519	3	1	253	1	0	0	0	0	1	0	0	0	5331	1319	46	2	510	2	EYA4	6	133783519	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	14829870	133783519	37331548	313	125911											
SLC2A12	154091	broad.mit.edu	37	chr6	134312334	134312334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggattggcccctaccacAcagcttgttacactccaaga	7	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:134312334A>G	uc003qem.1	-	5	1984	c.1813T>C	c.(1813-1815)TGT>CGT	p.C605R		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	605	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CCCCTACCACACAGCTTGTTA	0.463													G	134312334	A	G	134312334	3	3	253	1	0	0	0	0	1	0	0	0	14541	159	6	3	44	3	SLC2A12	6	134312334	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	528815	134312334	36802733	314	125912											
HECA	51696	broad.mit.edu	37	chr6	139488147	139488147	+	Frame_Shift_Del	DEL	G	G	-													tgcggggttggcagttcacaGggggggacacttcgacaccc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:139488146_139488146AG>A	uc003qin.3	+	1	1282	c.997_997AG>A	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACA	0.587													-	139488147	G	-	139488147	7	5	253	1	0	1	0	1	0	0	0	0	7038	1000	35	0	1004	0	HECA	6	139488147	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	5175813	139488147	31626920	315	125913											
LATS1	9113	broad.mit.edu	37	chr6	150005576	150005579	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													aaatgctgatataccagatcCagacaaaggtcttcctacat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:150005575_150005578CCAGA>C	uc003qmu.1	-	3	1195_1198	c.647_650TCTGG>G	c.(646-651)tctggafs	p.S216fs	LATS1_uc010kif.1_Frame_Shift_Del_p.S111fs|LATS1_uc003qmv.2_Frame_Shift_Del_p.S216fs|LATS1_uc003qmw.3_Frame_Shift_Del_p.S216fs|LATS1_uc010kig.1_Frame_Shift_Del_p.S111fs	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	216					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|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)		TATACCAGATCCAGACAAAGGTCT	0.51													-	150005579	CAGA	-	150005576	7	5	253	1	0	1	0	1	0	0	0	0	8646	603	21	0	2763	0	LATS1	6	150005576	Frame_Shift_Del	DEL	CAGA	TCGA-HJ-7597-01A-21D-2201-08	10517429	150005576	21109491	316	125914											
LRP11	84918	broad.mit.edu	37	chr6	150141737	150141737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctcagatgtaatgggaCgagcttttttcagtttctgt	9	7	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:150141737C>T	uc003qng.2	-	7	1775	c.1451G>A	c.(1450-1452)CGT>CAT	p.R484H		NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	484	Cytoplasmic (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TGTAATGGGACGAGCTTTTTT	0.448													T	150141737	C	T	150141737	3	4	253	1	0	0	0	0	1	0	0	0	8953	536	19	1	55	1	LRP11	6	150141737	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	136161	150141737	20973330	317	125915											
ARID1B	57492	broad.mit.edu	37	chr6	157488279	157488279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgaacacgcaggcgccGccctacagcatggcgcccgc	12	17	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:157488279G>A	uc003qqn.2	+	9	2924	c.2772G>A	c.(2770-2772)CCG>CCA	p.P924P	ARID1B_uc003qqo.2_Silent_p.P937P|ARID1B_uc003qqp.2_Silent_p.P924P|ARID1B_uc010kjl.2_Silent_p.P122P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	982					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCAGGCGCCGCCCTACAGCA	0.612													A	157488279	G	A	157488279	2	1	253	1	0	0	0	0	0	0	0	1	914	1074	38	1		1	ARID1B	6	157488279	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7346542	157488279	13626788	318	125916											
ACAT2	39	broad.mit.edu	37	chr6	160198409	160198409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgggcttacacctttagCacggatagtttcctggtccc	10	12	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:160198409C>T	uc010kjy.2	+	7	964	c.833C>T	c.(832-834)GCA>GTA	p.A278V	ACAT2_uc011efw.1_Missense_Mutation_p.A307V	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	acetyl-Coenzyme A acetyltransferase 2	278						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACACCTTTAGCACGGATAGTT	0.433													T	160198409	C	T	160198409	3	4	253	1	0	0	0	0	1	0	0	0	122	710	25	2	859	2	ACAT2	6	160198409	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2710130	160198409	10916658	319	125917											
THBS2	7058	broad.mit.edu	37	chr6	169648825	169648825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctccagagccaacagcGtgcccctggacttgccgtcc	11	18	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:169648825G>A	uc003qwt.2	-	4	544	c.296C>T	c.(295-297)ACG>ATG	p.T99M		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	99	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T99M(1)		ovary(5)	5		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)		AGCCAACAGCGTGCCCCTGGA	0.622													A	169648825	G	A	169648825	3	1	253	1	0	0	0	0	1	0	0	0	15851	1145	40	1	3302	1	THBS2	6	169648825	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	9450416	169648825	1466242	320	125918											
C6orf70	55780	broad.mit.edu	37	chr6	170159118	170159118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctcaacctgcgtaacGtcttatggcatgggtttgcg	13	9	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr6:170159118G>A	uc003qxg.1	+	6	595	c.562G>A	c.(562-564)GTC>ATC	p.V188I	C6orf70_uc011ehb.1_Missense_Mutation_p.V62I|C6orf70_uc003qxh.1_Missense_Mutation_p.V188I|C6orf70_uc010kky.1_Missense_Mutation_p.V62I	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	188						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CCTGCGTAACGTCTTATGGCA	0.378													A	170159118	G	A	170159118	3	1	253	1	0	0	0	0	1	0	0	0	2370	1145	40	1	584	1	C6orf70	6	170159118	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	510293	170159118	955949	321	125919											
MICALL2	79778	broad.mit.edu	37	chr7	1476465	1476465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagctcctgctcccgcCgccgctcctgcagtgacttc	9	20	0	1	rs147056642	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:1476465C>T	uc003skj.3	-	15	2651	c.2504G>A	c.(2503-2505)CGG>CAG	p.R835Q	MICALL2_uc003skh.3_Missense_Mutation_p.R58Q|MICALL2_uc003ski.3_Missense_Mutation_p.R322Q	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	835	Potential.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTGCTCCCGCCGCCGCTCCTG	0.667													T	1476465	C	T	1476465	3	4	253	1	0	0	0	0	1	0	0	0	9574	652	23	1	222	1	MICALL2	7	1476465	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08		1476465	157662198	322	125920											
FOXK1	221937	broad.mit.edu	37	chr7	4794120	4794120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcccagccagtccacgCggtgccggctcctccagtta	10	18	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:4794120C>T	uc003snc.1	+	3	787	c.777C>T	c.(775-777)CGC>CGT	p.R259R	FOXK1_uc003sna.1_Silent_p.R96R|FOXK1_uc003snb.1_Silent_p.R259R	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	259					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			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGTCCACGCGGTGCCGGCT	0.627													T	4794120	C	T	4794120	2	4	253	1	0	0	0	0	0	0	0	1	6014	755	27	1		1	FOXK1	7	4794120	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3317655	4794120	154344543	323	125921											
TNRC18	84629	broad.mit.edu	37	chr7	5352185	5352185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggctggcaggaaggcGgcgatcttgggccggttctc	18	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:5352185G>A	uc003soi.3	-	27	8686	c.8337C>T	c.(8335-8337)GCC>GCT	p.A2779A		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2779							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCAGGAAGGCGGCGATCTTGG	0.706													A	5352185	G	A	5352185	2	1	253	1	0	0	0	0	0	0	0	1	16336	1103	39	1		1	TNRC18	7	5352185	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	558065	5352185	153786478	324	125922											
EIF2AK1	27102	broad.mit.edu	37	chr7	6080770	6080770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcagattctccaaagCgtttttctttttctggggtg	10	8	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:6080770C>T	uc003spp.2	-	9	1018	c.872G>A	c.(871-873)CGC>CAC	p.R291H	EIF2AK1_uc003spq.2_Missense_Mutation_p.R290H|EIF2AK1_uc011jwm.1_Missense_Mutation_p.R167H|EIF2AK1_uc003spr.1_Missense_Mutation_p.R83H	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	291	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			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TTCTCCAAAGCGTTTTTCTTT	0.388													T	6080770	C	T	6080770	3	4	253	1	0	0	0	0	1	0	0	0	4996	768	27	1	1048	1	EIF2AK1	7	6080770	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	728585	6080770	153057893	325	125923											
KDELR2	11014	broad.mit.edu	37	chr7	6505908	6505908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatcataaatagctgcGgaaggatagccacggactcc	11	10	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:6505908G>A	uc003sqe.3	-	4	559	c.398C>T	c.(397-399)CCG>CTG	p.P133L	DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron	NM_006854	NP_006845	P33947	ERD22_HUMAN	KDEL receptor 2 isoform 1	133	Helical; (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAATAGCTGCGGAAGGATAGC	0.542													A	6505908	G	A	6505908	3	1	253	1	0	0	0	0	1	0	0	0	8120	1116	39	1	423	1	KDELR2	7	6505908	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	425138	6505908	152632755	326	125924											
HDAC9	9734	broad.mit.edu	37	chr7	18833017	18833017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcgtccggtgctgcacGcatggctgttggctgtgtca	13	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:18833017G>A	uc003suh.2	+	16	2296	c.2255G>A	c.(2254-2256)CGC>CAC	p.R752H	HDAC9_uc003sue.2_Missense_Mutation_p.R752H|HDAC9_uc011jyd.1_Missense_Mutation_p.R752H|HDAC9_uc003sui.2_Missense_Mutation_p.R755H|HDAC9_uc003suj.2_Missense_Mutation_p.R711H|HDAC9_uc003suk.2_5'UTR|HDAC9_uc003sua.1_Missense_Mutation_p.R730H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	752	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|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			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTGCTGCACGCATGGCTGTT	0.488													A	18833017	G	A	18833017	3	1	253	1	0	0	0	0	1	0	0	0	7014	1087	38	1	2377	1	HDAC9	7	18833017	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	12327109	18833017	140305646	327	125925											
BMPER	168667	broad.mit.edu	37	chr7	34118621	34118621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaagaacgacgcccgcCggacacgctccttctcgtgg	13	14	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:34118621C>T	uc011kap.1	+	12	1345	c.1231C>T	c.(1231-1233)CGG>TGG	p.R411W		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	411	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				ovary(2)|central_nervous_system(1)	3						CGACGCCCGCCGGACACGCTC	0.622													T	34118621	C	T	34118621	3	4	253	1	0	0	0	0	1	0	0	0	1468	643	23	1	1277	1	BMPER	7	34118621	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	15285604	34118621	125020042	328	125926											
AEBP1	165	broad.mit.edu	37	chr7	44153382	44153382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggccatgaacgggaaccGgcctatcccacacatagacc	9	15	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:44153382G>A	uc003tkb.2	+	21	3304	c.2999G>A	c.(2998-3000)CGG>CAG	p.R1000Q	AEBP1_uc003tkc.3_Missense_Mutation_p.R575Q|AEBP1_uc003tkd.2_Missense_Mutation_p.R250Q	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1000	Required for transcriptional repression (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				0						AACGGGAACCGGCCTATCCCA	0.607													A	44153382	G	A	44153382	3	1	253	1	0	0	0	0	1	0	0	0	349	1116	39	1	3081	1	AEBP1	7	44153382	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	10034761	44153382	114985281	329	125927											
SUN3	256979	broad.mit.edu	37	chr7	48046807	48046807	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggtctccatgggtgttccaGttgtgattattgtccatacc	11	9	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:48046807G>C	uc003tof.2	-	6	544	c.447C>G	c.(445-447)AAC>AAG	p.N149K	SUN3_uc010kyq.2_Missense_Mutation_p.N49K|SUN3_uc003tog.2_Missense_Mutation_p.N149K|SUN3_uc011kcf.1_Missense_Mutation_p.N137K	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	149						integral to membrane				central_nervous_system(1)	1						GGGTGTTCCAGTTGTGATTAT	0.493													C	48046807	G	C	48046807	3	2	253	1	0	0	0	0	1	0	0	0	15390	1020	36	5	650	5	SUN3	7	48046807	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3893425	48046807	111091856	330	125928											
ZPBP	11055	broad.mit.edu	37	chr7	50022936	50022936	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcataattcattacatAccacagcactcaggacattt	4	10	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:50022936A>G	uc003tou.2	-	7	1031	c.961_splice	c.e7+1	p.V321_splice	ZPBP_uc011kci.1_Splice_Site_p.V247_splice|ZPBP_uc010kyw.2_Splice_Site_p.V320_splice	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1						binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TTCATTACATACCACAGCACT	0.323													G	50022936	A	G	50022936	5	3	253	1	0	0	0	0	0	0	1	0	18216	405	14	3	100	3	ZPBP	7	50022936	Splice_Site	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1976129	50022936	109115727	331	125929											
BAZ1B	9031	broad.mit.edu	37	chr7	72925183	72925183	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaagcgggcttcatactctCtgttggcagtagttcaggaa	11	10	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:72925183C>A	uc003tyc.2	-	2	453	c.108_splice	c.e2-1	p.E36_splice		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B						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			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCATACTCTCTGTTGGCAGT	0.433													A	72925183	C	A	72925183	5	1	253	1	0	0	0	0	0	0	1	0	1330	927	32	5	4416	5	BAZ1B	7	72925183	Splice_Site	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	22902247	72925183	86213480	332	125930											
CLIP2	7461	broad.mit.edu	37	chr7	73790244	73790244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggccgagaagtcgcgcGtgctgcagctggaggaggag	19	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:73790244G>A	uc003uam.2	+	10	1840	c.1513G>A	c.(1513-1515)GTG>ATG	p.V505M	CLIP2_uc003uan.2_Missense_Mutation_p.V470M|CLIP2_uc003uao.2_Translation_Start_Site	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	505	Potential.					microtubule associated complex				skin(3)	3						GAAGTCGCGCGTGCTGCAGCT	0.657													A	73790244	G	A	73790244	3	1	253	1	0	0	0	0	1	0	0	0	3533	1145	40	1	1547	1	CLIP2	7	73790244	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	865061	73790244	85348419	333	125931											
MAGI2	9863	broad.mit.edu	37	chr7	79082533	79082533	+	Frame_Shift_Del	DEL	C	C	-													ggaactgtccattctcggcgCcccccttcagttcaaagccc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:79082532_79082532GC>G	uc003ugx.3	-	0	359	c.105_105GC>C	c.(103-105)ggcfs	p.G35fs	MAGI2_uc003ugy.3_Frame_Shift_Del_p.G35fs|MAGI2-AS3_uc022agq.1_Intron|MAGI2-AS3_uc022agr.1_Intron|MAGI2-AS3_uc010lea.2_5'Flank|MAGI2-AS3_uc022ags.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	35	PDZ 1.					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)				CATTCTCGGCGCCCCCCTTCA	0.582													-	79082533	C	-	79082533	7	5	253	1	0	1	0	1	0	0	0	0	9191	739	26	0	4351	0	MAGI2	7	79082533	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	5292289	79082533	80056130	334	125932											
PCLO	27445	broad.mit.edu	37	chr7	82785657	82785657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggacgcccagggtcCgggggtcttcctgattgctt	15	11	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:82785657C>T	uc003uhx.2	-	2	589	c.300G>A	c.(298-300)CCG>CCA	p.P100P	PCLO_uc003uhv.2_Silent_p.P100P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	100					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCCCAGGGTCCGGGGGTCTTC	0.418													T	82785657	C	T	82785657	2	4	253	1	0	0	0	0	0	0	0	1	11583	639	23	1		1	PCLO	7	82785657	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3703124	82785657	76353006	335	125933											
ABCB1	5243	broad.mit.edu	37	chr7	87144568	87144568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttccctgccaaggggtcGtagaaccgctccaggagctg	12	13	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:87144568G>A	uc003uiz.1	-	26	3679	c.3261C>T	c.(3259-3261)TAC>TAT	p.Y1087Y	ABCB1_uc011khc.1_Silent_p.Y1023Y	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	1087	Cytoplasmic (Potential).|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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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)	CCAAGGGGTCGTAGAACCGCT	0.517													A	87144568	G	A	87144568	2	1	253	1	0	0	0	0	0	0	0	1	40	1140	40	1		1	ABCB1	7	87144568	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4358911	87144568	71994095	336	125934											
PON1	5444	broad.mit.edu	37	chr7	94953783	94953783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagcgcaatcagcttcGccatggtcggggatagacaa	15	9	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:94953783G>A	uc003uns.2	-	1	102	c.5C>T	c.(4-6)GCG>GTG	p.A2V	PON1_uc011kih.1_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	paraoxonase 1 precursor	2					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	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)	AATCAGCTTCGCCATGGTCGG	0.622													A	94953783	G	A	94953783	3	1	253	1	0	0	0	0	1	0	0	0	12248	1087	38	1	1098	1	PON1	7	94953783	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7809215	94953783	64184880	337	125935											
TRRAP	8295	broad.mit.edu	37	chr7	98490105	98490105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaccaacgaacatcttcGtcctcacacaaaaaatgttt	3	13	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:98490105G>A	uc003upp.2	+	5	529	c.320G>A	c.(319-321)CGT>CAT	p.R107H	TRRAP_uc011kis.1_Missense_Mutation_p.R107H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	107					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			GAACATCTTCGTCCTCACACA	0.333													A	98490105	G	A	98490105	3	1	253	1	0	0	0	0	1	0	0	0	16598	1145	40	1	334	1	TRRAP	7	98490105	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3536322	98490105	60648558	338	125936											
CUX1	1523	broad.mit.edu	37	chr7	101844792	101844792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcccagagtgacatcAccatcctcacccccaagctt	5	18	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:101844792A>G	uc003uyx.3	+	18	2253	c.2215A>G	c.(2215-2217)ACC>GCC	p.T739A	CUX1_uc003uys.3_Missense_Mutation_p.T750A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	739					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GAGTGACATCACCATCCTCAC	0.642													G	101844792	A	G	101844792	3	3	253	1	0	0	0	0	1	0	0	0	4064	159	6	3	2352	3	CUX1	7	101844792	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	3354687	101844792	57293871	339	125937											
PUS7	54517	broad.mit.edu	37	chr7	105108874	105108874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccacacatagctttggtAgctatgaatatacattaagc	6	8	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:105108874A>G	uc003vcx.2	-	12	1654	c.1435T>C	c.(1435-1437)TAC>CAC	p.Y479H	PUS7_uc010lji.2_Missense_Mutation_p.Y485H|PUS7_uc003vcy.2_Missense_Mutation_p.Y479H|PUS7_uc003vcz.1_Missense_Mutation_p.Y479H	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	479	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TAGCTTTGGTAGCTATGAATA	0.368													G	105108874	A	G	105108874	3	3	253	1	0	0	0	0	1	0	0	0	12833	420	15	3	570	3	PUS7	7	105108874	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	3264082	105108874	54029789	340	125938											
PIK3CG	5294	broad.mit.edu	37	chr7	106508461	106508461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcccaagccttccagcGgcagctcacggcgctgattg	13	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:106508461G>A	uc003vdv.3	+	2	540	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.R152Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R152Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	152					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			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCCTTCCAGCGGCAGCTCACG	0.672													A	106508461	G	A	106508461	3	1	253	1	0	0	0	0	1	0	0	0	11916	1116	39	1	457	1	PIK3CG	7	106508461	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1399587	106508461	52630202	341	125939											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519997	113519997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaaaaatctccctttaCggagctttctgctgatgaac	8	10	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:113519997C>T	uc010ljy.1	-	4	1181	c.1150G>A	c.(1150-1152)GTA>ATA	p.V384I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	384					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TCTCCCTTTACGGAGCTTTCT	0.398													T	113519997	C	T	113519997	3	4	253	1	0	0	0	0	1	0	0	0	12371	536	19	1	2222	1	PPP1R3A	7	113519997	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	7011536	113519997	45618666	342	125940											
FAM3C	10447	broad.mit.edu	37	chr7	121003000	121003000	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctaatacttctcctgttttTcctaaaagagattaaattca	3	8	3	1	rs146438816		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:121003000T>A	uc003vjx.2	-	7	581	c.333A>T	c.(331-333)GGA>GGT	p.G111G	FAM3C_uc010lkm.2_Silent_p.G111G	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	111					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity				0	all_neural(327;0.117)					CTCCTGTTTTTCCTAAAAGAG	0.323													A	121003000	T	A	121003000	2	1	253	1	0	0	0	0	0	0	0	1	5558	1797	62	5		5	FAM3C	7	121003000	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	7483003	121003000	38135663	343	125941											
NRF1	4899	broad.mit.edu	37	chr7	129367082	129367082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgttcctgtgcccgcagcGaagctgccgcccatgctgtc	11	17	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:129367082G>A	uc003voz.2	+	10	1342	c.1225G>A	c.(1225-1227)GAA>AAA	p.E409K	NRF1_uc003vpa.2_Missense_Mutation_p.E409K|NRF1_uc011kpa.1_Missense_Mutation_p.E248K|NRF1_uc003vpb.2_Missense_Mutation_p.E409K	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	409	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TGCCCGCAGCGAAGCTGCCGC	0.577													A	129367082	G	A	129367082	3	1	253	1	0	0	0	0	1	0	0	0	10646	1072	37	1	1259	1	NRF1	7	129367082	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	8364082	129367082	29771581	344	125942											
PLXNA4	91584	broad.mit.edu	37	chr7	131825445	131825445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagccggtgctctgacGtggagcaagagtccatgaag	14	11	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:131825445G>A	uc003vra.3	-	30	5580	c.5351C>T	c.(5350-5352)ACG>ATG	p.T1784M	PLXNA4_uc003vqz.3_Missense_Mutation_p.T69M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1784	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTGCTCTGACGTGGAGCAAGA	0.552													A	131825445	G	A	131825445	3	1	253	1	0	0	0	0	1	0	0	0	12122	1145	40	1	345	1	PLXNA4	7	131825445	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2458363	131825445	27313218	345	125943											
CALD1	800	broad.mit.edu	37	chr7	134632353	134632353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggagcttcgtcgtcgtCgcggggagaccgagagcgaa	18	9	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:134632353C>T	uc003vrz.2	+	8	2086	c.1627C>T	c.(1627-1629)CGC>TGC	p.R543C	CALD1_uc003vry.2_Missense_Mutation_p.R288C|CALD1_uc003vsa.2_Missense_Mutation_p.R314C|CALD1_uc003vsb.2_Missense_Mutation_p.R288C|CALD1_uc010lmm.2_Missense_Mutation_p.R314C|CALD1_uc011kpt.1_Missense_Mutation_p.R62C|CALD1_uc003vsc.2_Missense_Mutation_p.R308C|CALD1_uc003vsd.2_Missense_Mutation_p.R282C|CALD1_uc011kpu.1_Missense_Mutation_p.R293C|CALD1_uc011kpv.1_Missense_Mutation_p.R152C|CALD1_uc003vse.2_Missense_Mutation_p.R407C	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	543	Poly-Arg.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						TCGTCGTCGTCGCGGGGAGAC	0.468													T	134632353	C	T	134632353	3	4	253	1	0	0	0	0	1	0	0	0	2581	884	31	1	1706	1	CALD1	7	134632353	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2806908	134632353	24506310	346	125944											
CHRM2	1129	broad.mit.edu	37	chr7	136700133	136700133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagaactgtggaggatgGggagtgctacattcagtttt	16	4	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:136700133G>T	uc003vtf.1	+	4	1144	c.521G>T	c.(520-522)GGG>GTG	p.G174V	CHRM2_uc003vtg.1_Missense_Mutation_p.G174V|CHRM2_uc003vtj.1_Missense_Mutation_p.G174V|CHRM2_uc003vtk.1_Missense_Mutation_p.G174V|CHRM2_uc003vtl.1_Missense_Mutation_p.G174V|CHRM2_uc003vtm.1_Missense_Mutation_p.G174V|CHRM2_uc003vti.1_Missense_Mutation_p.G174V|CHRM2_uc003vto.1_Missense_Mutation_p.G174V|CHRM2_uc003vtn.1_Missense_Mutation_p.G174V|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	174	Extracellular (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	GTGGAGGATGGGGAGTGCTAC	0.488													T	136700133	G	T	136700133	3	4	253	1	0	0	0	0	1	0	0	0	3377	1232	43	5	523	5	CHRM2	7	136700133	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2067780	136700133	22438530	347	125945											
UBN2	254048	broad.mit.edu	37	chr7	138967781	138967781	+	Frame_Shift_Del	DEL	A	A	-													ttacattaggagtgtagtccAaaaaaggaccagaaaactcc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:138967781delA	uc011kqr.1	+	15	2130	c.2130delA	c.(2128-2130)CCAfs	p.P710fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	710										ovary(1)|skin(1)	2						AGTGTAGTCCAAAAAAGGACC	0.398													-	138967781	A	-	138967781	7	5	253	1	0	1	0	1	0	0	0	0	16890	117	5	0	2188	0	UBN2	7	138967781	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	2267648	138967781	20170882	348	125946											
PARP12	64761	broad.mit.edu	37	chr7	139727098	139727098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtagacttcccagagggCcaggttctgtactcgctcaa	11	12	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:139727098C>T	uc003vvl.1	-	10	2480	c.1606G>A	c.(1606-1608)GCC>ACC	p.A536T	PARP12_uc003vvk.1_Missense_Mutation_p.A322T|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	536	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					TCCCAGAGGGCCAGGTTCTGT	0.557													T	139727098	C	T	139727098	3	4	253	1	0	0	0	0	1	0	0	0	11457	739	26	2	511	2	PARP12	7	139727098	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	759317	139727098	19411565	349	125947											
SLC37A3	84255	broad.mit.edu	37	chr7	140035244	140035244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgagcctgtctccttaGcacgagagagaatatttccc	9	10	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:140035244G>A	uc003vvo.2	-	15	1619	c.1453C>T	c.(1453-1455)CTA>TTA	p.L485L	SLC37A3_uc003vvn.2_Silent_p.L63L|SLC37A3_uc003vvp.2_Missense_Mutation_p.A384V|SLC37A3_uc010lnh.2_Silent_p.L469L	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	485					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					TGTCTCCTTAGCACGAGAGAG	0.453													A	140035244	G	A	140035244	2	1	253	1	0	0	0	0	0	0	0	1	14599	971	34	2		2	SLC37A3	7	140035244	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	308146	140035244	19103419	350	125948											
WEE2	494551	broad.mit.edu	37	chr7	141416054	141416054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagaggaaggcaagggagGgctgcctgccaaggtaagcg	17	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:141416054G>T	uc003vwn.2	+	3	978	c.572G>T	c.(571-573)GGG>GTG	p.G191V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	191					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			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					GGCAAGGGAGGGCTGCCTGCC	0.269													T	141416054	G	T	141416054	3	4	253	1	0	0	0	0	1	0	0	0	17342	1232	43	5	582	5	WEE2	7	141416054	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1380810	141416054	17722609	351	125949											
TRYX3	136541	broad.mit.edu	37	chr7	141954898	141954898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcacacacattgtagctcCaggtagagacagagcacatg	9	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:141954898C>A	uc003vxb.2	-	3	733	c.413G>T	c.(412-414)TGG>TTG	p.W138L	TRYX3_uc003vxc.3_Missense_Mutation_p.W138L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3 precursor	138	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)					ATTGTAGCTCCAGGTAGAGAC	0.423													A	141954898	C	A	141954898	3	1	253	1	0	0	0	0	1	0	0	0	16601	595	21	5	324	5	TRYX3	7	141954898	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	538844	141954898	17183765	352	125950											
PDIA4	9601	broad.mit.edu	37	chr7	148701189	148701189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtagaactcgatgaggacGtccttcttggggtccatcac	12	11	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:148701189G>A	uc003wff.2	-	10	1917	c.1635C>T	c.(1633-1635)GAC>GAT	p.D545D		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	545	Thioredoxin 3.				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			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGATGAGGACGTCCTTCTTGG	0.567													A	148701189	G	A	148701189	2	1	253	1	0	0	0	0	0	0	0	1	11670	1136	40	1		1	PDIA4	7	148701189	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6746291	148701189	10437474	353	125951											
ABP1	26	broad.mit.edu	37	chr7	150553856	150553856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgggaagcccgtgccGtcatcttctttggtgaccag	13	12	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:150553856G>A	uc003why.1	+	3	4516	c.298G>A	c.(298-300)GTC>ATC	p.V100I	ABP1_uc003whz.1_Missense_Mutation_p.V100I|ABP1_uc003wia.1_Missense_Mutation_p.V100I	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	100					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCCCGTGCCGTCATCTTCTT	0.582													A	150553856	G	A	150553856	3	1	253	1	0	0	0	0	1	0	0	0	98	1145	40	1	300	1	ABP1	7	150553856	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1852667	150553856	8584807	354	125952											
ABCB8	11194	broad.mit.edu	37	chr7	150739135	150739135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtgtacacagccgccCgggaagcgaatgctcacgag	14	11	1	1	rs148191540	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:150739135C>T	uc003wil.3	+	15	1849	c.1756C>T	c.(1756-1758)CGG>TGG	p.R586W	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Missense_Mutation_p.R569W|ABCB8_uc011kvd.1_Missense_Mutation_p.R481W|ABCB8_uc003wim.3_Missense_Mutation_p.R364W|ABCB8_uc003wik.3_Missense_Mutation_p.R569W	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	586	ABC transporter.					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(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGCCGCCCGGGAAGCGAA	0.612													T	150739135	C	T	150739135	3	4	253	1	0	0	0	0	1	0	0	0	47	643	23	1	1759	1	ABCB8	7	150739135	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	185279	150739135	8399528	355	125953											
MNX1	3110	broad.mit.edu	37	chr7	156798301	156798301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcggcgtggacgctggcGccgttgctgtaggggaaatg	20	8	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr7:156798301G>A	uc003wnd.1	-	3	1422	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Silent_p.G166G|MNX1_uc003wnc.1_Silent_p.G161G|MNX1_uc010lqr.1_RNA	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	373					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACGCTGGCGCCGTTGCTGT	0.731									Currarino_syndrome				A	156798301	G	A	156798301	2	1	253	1	0	0	0	0	0	0	0	1	9679	1074	38	1		1	MNX1	7	156798301	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6059166	156798301	2340362	356	125954											
CSMD1	64478	broad.mit.edu	37	chr8	2975988	2975988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaagtgaggacaggatgGcctattagaatgtacccagg	13	7	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:2975988G>A	uc011kwk.1	-	42	6756	c.6366C>T	c.(6364-6366)GGC>GGT	p.G2122G	CSMD1_uc011kwj.1_Silent_p.G1514G|CSMD1_uc010lrg.2_Silent_p.G190G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2122	Extracellular (Potential).|Sushi 12.					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)		GGACAGGATGGCCTATTAGAA	0.458													A	2975988	G	A	2975988	2	1	253	1	0	0	0	0	0	0	0	1	3944	1190	42	2		2	CSMD1	8	2975988	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		2975988	143388034	357	125955											
TNKS	8658	broad.mit.edu	37	chr8	9609128	9609128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttttttaggctgacgatAtcagagctttgctgatagat	9	6	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:9609128A>G	uc003wss.2	+	19	2847	c.2842A>G	c.(2842-2844)ATC>GTC	p.I948V	TNKS_uc011kww.1_Missense_Mutation_p.I711V|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	948					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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GGCTGACGATATCAGAGCTTT	0.373													G	9609128	A	G	9609128	3	3	253	1	0	0	0	0	1	0	0	0	16316	449	16	3	2916	3	TNKS	8	9609128	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	6633140	9609128	136754894	358	125956											
TNKS	8658	broad.mit.edu	37	chr8	9609186	9609186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttacctacctgttttaaacCtcaggctactgtagtgagtg	8	10	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:9609186C>A	uc003wss.2	+	19	2905	c.2900C>A	c.(2899-2901)CCT>CAT	p.P967H	TNKS_uc011kww.1_Missense_Mutation_p.P730H|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	967					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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		TGTTTTAAACCTCAGGCTACT	0.488													A	9609186	C	A	9609186	3	1	253	1	0	0	0	0	1	0	0	0	16316	681	24	5	2974	5	TNKS	8	9609186	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	58	9609186	136754836	359	125957											
BMP1	649	broad.mit.edu	37	chr8	22067038	22067038	+	Frame_Shift_Del	DEL	G	G	-													ttggcgacaacaactaccctGggggtgtggactgtgagtgg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:22067037_22067037TG>T	uc003xbg.3	+	18	2921	c.2655_2655TG>T	c.(2653-2655)cctfs	p.P885fs	BMP1_uc011kzc.2_Frame_Shift_Del_p.P634fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	885	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)		ACAACTACCCTGGGGGTGTGG	0.622													-	22067038	G	-	22067038	7	5	253	1	0	1	0	1	0	0	0	0	1456	1348	47	0	2820	0	BMP1	8	22067038	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	12457852	22067038	124296984	360	125958											
PPP3CC	5533	broad.mit.edu	37	chr8	22355520	22355520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgtcttgtagtgtgtgCtgtatttatggagtttaaag	11	2	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:22355520C>T	uc003xbs.2	+	4	706	c.379C>T	c.(379-381)CTG>TTG	p.L127L	PPP3CC_uc003xbr.1_Silent_p.L127L|PPP3CC_uc011kzi.1_Silent_p.L127L|PPP3CC_uc003xbt.2_Silent_p.L127L	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	127					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTAGTGTGTGCTGTATTTATG	0.229													T	22355520	C	T	22355520	2	4	253	1	0	0	0	0	0	0	0	1	12399	796	28	2		2	PPP3CC	8	22355520	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	288482	22355520	124008502	361	125959											
SORBS3	10174	broad.mit.edu	37	chr8	22428492	22428492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcatcacgggcacggggCgccaaggcatattccctgcc	13	15	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:22428492C>T	uc003xbv.2	+	18	1841	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	SORBS3_uc003xbw.3_Missense_Mutation_p.R159C	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	501	SH3 2.|Binds to vinculin.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		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)		GGGCACGGGGCGCCAAGGCAT	0.652													T	22428492	C	T	22428492	3	4	253	1	0	0	0	0	1	0	0	0	14929	768	27	1	1567	1	SORBS3	8	22428492	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	72972	22428492	123935530	362	125960											
ENTPD4	9583	broad.mit.edu	37	chr8	23291937	23291937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttatagttgacaggaaaCgaaaagcccctatgaaacac	7	9	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:23291937C>T	uc003xdl.2	-	12	1679	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	ENTPD4_uc011kzu.1_Silent_p.S497S|ENTPD4_uc003xdm.2_Silent_p.S497S|ENTPD4_uc011kzv.1_Silent_p.S505S	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	505	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGACAGGAAACGAAAAGCCCC	0.478													T	23291937	C	T	23291937	2	4	253	1	0	0	0	0	0	0	0	1	5141	523	19	1		1	ENTPD4	8	23291937	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	863445	23291937	123072085	363	125961											
ADRA1A	148	broad.mit.edu	37	chr8	26722168	26722168	+	Frame_Shift_Del	DEL	C	C	-													ggacgcggtgcagcacagcaCatccactgccgcccagatgt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:26722168delC	uc003xfh.1	-	1	755	c.319delG	c.(319-321)GTGfs	p.V107fs	ADRA1A_uc003xfc.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc010lul.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc010lum.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Frame_Shift_Del_p.V107fs	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	107	Helical; Name=3; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAGCACAGCACATCCACTGCC	0.627													-	26722168	C	-	26722168	7	5	253	1	0	1	0	1	0	0	0	0	334	478	17	0	1380	0	ADRA1A	8	26722168	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	3430231	26722168	119641854	364	125962											
NKX6-3	157848	broad.mit.edu	37	chr8	41504815	41504815	+	Frame_Shift_Del	DEL	G	G	-													ggcgcagcgggttggagctcGgggaggccccagggccctga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:41504815delG	uc003xoa.2	-	1	64	c.60delC	c.(58-60)CCCfs	p.P20fs	NKX6-3_uc010lxa.1_Frame_Shift_Del_p.P20fs	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	Error:Variant_position_missing_in_A6NJ46_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	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)			GTTGGAGCTCGGGGAGGCCCC	0.652													-	41504815	G	-	41504815	7	5	253	1	0	1	0	1	0	0	0	0	10459	1103	39	0	355	0	NKX6-3	8	41504815	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	14782647	41504815	104859207	365	125963											
CHRNA6	8973	broad.mit.edu	37	chr8	42611903	42611903	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatagctggtggagtccaggTtatcatgccattgtatttaa	10	6	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:42611903T>A	uc003xpj.2	-	5	485	c.439A>T	c.(439-441)ACC>TCC	p.T147S	CHRNA6_uc011lcw.1_Missense_Mutation_p.T132S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	147	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	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)			GGAGTCCAGGTTATCATGCCA	0.413													A	42611903	T	A	42611903	3	1	253	1	0	0	0	0	1	0	0	0	3387	1725	60	5	1053	5	CHRNA6	8	42611903	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1107088	42611903	103752119	366	125964											
RGS20	8601	broad.mit.edu	37	chr8	54859256	54859256	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccaggaagatcagaggCccacaatagcttcccacgaa	9	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:54859256C>G	uc003xrp.2	+	4	783	c.691C>G	c.(691-693)CCC>GCC	p.P231A	RGS20_uc003xrq.2_Missense_Mutation_p.P116A|RGS20_uc010lye.2_Missense_Mutation_p.P23A|RGS20_uc010lyf.2_Intron|RGS20_uc003xrs.2_Missense_Mutation_p.P84A|RGS20_uc003xrt.2_5'UTR	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGATCAGAGGCCCACAATAGC	0.393													G	54859256	C	G	54859256	3	3	253	1	0	0	0	0	1	0	0	0	13303	739	26	5	778	5	RGS20	8	54859256	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	12247353	54859256	91504766	367	125965											
TMEM68	137695	broad.mit.edu	37	chr8	56663707	56663707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaacacatccagtaatAaactaaaccctgtaagaaac	3	11	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:56663707A>G	uc003xsg.1	-	3	572	c.503T>C	c.(502-504)TTA>TCA	p.L168S	TMEM68_uc003xsh.1_Missense_Mutation_p.L168S	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	168						integral to membrane	acyltransferase activity			skin(1)	1			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATCCAGTAATAAACTAAACCC	0.348													G	56663707	A	G	56663707	3	3	253	1	0	0	0	0	1	0	0	0	16194	372	13	3	278	3	TMEM68	8	56663707	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1804451	56663707	89700315	368	125966											
PENK	5179	broad.mit.edu	37	chr8	57358422	57358422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcggtagctgcacgtcgCgcaatcctggctgcattcgg	14	12	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:57358422C>T	uc003xsz.2	-	1	172	c.91G>A	c.(91-93)GCG>ACG	p.A31T	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.A31T|PENK_uc010lym.2_Missense_Mutation_p.A31T	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	31					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGCACGTCGCGCAATCCTGG	0.652													T	57358422	C	T	57358422	3	4	253	1	0	0	0	0	1	0	0	0	11727	768	27	1	720	1	PENK	8	57358422	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	694715	57358422	89005600	369	125967											
KCNB2	9312	broad.mit.edu	37	chr8	73848244	73848244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatacgctgccggagctGcaggaaacggacgaatttgg	13	10	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:73848244G>A	uc003xzb.2	+	3	1242	c.654G>A	c.(652-654)CTG>CTA	p.L218L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	218					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGCCGGAGCTGCAGGAAACGG	0.478													A	73848244	G	A	73848244	2	1	253	1	0	0	0	0	0	0	0	1	8013	1306	46	2		2	KCNB2	8	73848244	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	16489822	73848244	72515778	370	125968											
E2F5	1875	broad.mit.edu	37	chr8	86121436	86121436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcattcaggacctatccaTgtgctgcttataaataaaga	7	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:86121436T>C	uc003ycz.3	+	6	712	c.675T>C	c.(673-675)CAT>CAC	p.H225H	E2F5_uc003yda.3_Silent_p.H225H|E2F5_uc010mab.2_Silent_p.H64H|E2F5_uc003ydb.3_Silent_p.H44H	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	225					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						GACCTATCCATGTGCTGCTTA	0.408													C	86121436	T	C	86121436	2	2	253	1	0	0	0	0	0	0	0	1	4870	1461	51	3		3	E2F5	8	86121436	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	12273192	86121436	60242586	371	125969											
TMEM64	169200	broad.mit.edu	37	chr8	91657390	91657390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggtgtcagtctggccagCgccaccactttcaggccgct	12	14	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:91657390C>T	uc003yen.2	-	1	744	c.744G>A	c.(742-744)GCG>GCA	p.A248A	TMEM64_uc003yeo.2_Intron|TMEM64_uc011lgf.1_Silent_p.A248A|uc003yep.2_5'Flank	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	248						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GTCTGGCCAGCGCCACCACTT	0.602											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	91657390	C	T	91657390	2	4	253	1	0	0	0	0	0	0	0	1	16190	755	27	1		1	TMEM64	8	91657390	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5535954	91657390	54706632	372	125970											
VPS13B	157680	broad.mit.edu	37	chr8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-													gaactgaaattaccattcacTtttttaagtggacatattca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:100050671delT	uc003yiv.2	+	3	279	c.168delT	c.(166-168)ACTfs	p.T56fs	VPS13B_uc003yiw.2_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.2_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.2_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.1_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	56					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACCATTCACTTTTTTAAGTG	0.254													-	100050671	T	-	100050671	7	5	253	1	0	1	0	1	0	0	0	0	17187	1596	56	0	174	0	VPS13B	8	100050671	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	8393281	100050671	46313351	373	125971											
ABRA	137735	broad.mit.edu	37	chr8	107781751	107781751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagaatgcattcacttacTgggagggcaaggggcgcttg	17	7	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:107781751T>C	uc003ymm.3	-	1	722	c.668A>G	c.(667-669)CAG>CGG	p.Q223R		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	223					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ATTCACTTACTGGGAGGGCAA	0.577													C	107781751	T	C	107781751	3	2	253	1	0	0	0	0	1	0	0	0	100	1594	55	3	485	3	ABRA	8	107781751	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	7731080	107781751	38582271	374	125972											
CSMD3	114788	broad.mit.edu	37	chr8	113529286	113529286	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagactggtgggctgggcTgccagaagtaccgattttct	13	9	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:113529286T>G	uc003ynu.2	-	28	4892	c.4733A>C	c.(4732-4734)CAG>CCG	p.Q1578P	CSMD3_uc003yns.2_Missense_Mutation_p.Q850P|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1538P|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1474P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1578	Extracellular (Potential).|Sushi 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGGGCTGGGCTGCCAGAAGTA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113529286	T	G	113529286	3	3	253	1	0	0	0	0	1	0	0	0	3946	1580	55	5	6566	5	CSMD3	8	113529286	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	5747535	113529286	32834736	375	125973											
WDR67	93594	broad.mit.edu	37	chr8	124121761	124121761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctgaaaatcatactgCgtttagtaccctcatagata	6	10	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:124121761C>T	uc003ypp.1	+	10	1427	c.1337C>T	c.(1336-1338)GCG>GTG	p.A446V	WDR67_uc011lig.1_Missense_Mutation_p.A446V|WDR67_uc011lih.1_Missense_Mutation_p.A336V|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.A159V	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	446	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATCATACTGCGTTTAGTACC	0.378													T	124121761	C	T	124121761	3	4	253	1	0	0	0	0	1	0	0	0	17315	768	27	1	1375	1	WDR67	8	124121761	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	10592475	124121761	22242261	376	125974											
TG	7038	broad.mit.edu	37	chr8	134145764	134145764	+	Frame_Shift_Del	DEL	C	C	-													gaaagtacccacatttgcaaCcccctggcctgactttgtac							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:134145763_134145763AC>A	uc003ytw.3	+	46	8088	c.8047_8047AC>A	c.(8047-8049)accfs	p.T2683fs	TG_uc010mdw.3_Frame_Shift_Del_p.T1442fs|TG_uc011ljb.2_Frame_Shift_Del_p.T1052fs|TG_uc011ljc.2_Frame_Shift_Del_p.T816fs	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2683					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)		CACATTTGCAACCCCCTGGCC	0.493													-	134145764	C	-	134145764	7	5	253	1	0	1	0	1	0	0	0	0	15810	507	18	0	8234	0	TG	8	134145764	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	10024003	134145764	12218258	377	125975											
DENND3	22898	broad.mit.edu	37	chr8	142202491	142202491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcaagaattgaagatTgaggagaacttcaaagacac	8	8	2	6			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:142202491T>C	uc003yvy.2	+	21	3479	c.3201T>C	c.(3199-3201)ATT>ATC	p.I1067I	DENND3_uc010mep.2_Silent_p.I1028I|DENND3_uc003ywa.1_Silent_p.I117I|DENND3_uc003ywb.2_Silent_p.I117I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1067										ovary(1)	1	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)			AATTGAAGATTGAGGAGAACT	0.552													C	142202491	T	C	142202491	2	2	253	1	0	0	0	0	0	0	0	1	4432	1800	63	3		3	DENND3	8	142202491	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	8056727	142202491	4161531	378	125976											
SLC45A4	57210	broad.mit.edu	37	chr8	142225981	142225981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggaaacatggccatcacGgctgtgccgacagagaagcc	13	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:142225981G>A	uc003ywd.1	-	6	1973	c.1665C>T	c.(1663-1665)GCC>GCT	p.A555A	SLC45A4_uc003ywc.1_Silent_p.A555A|SLC45A4_uc010meq.1_Silent_p.A553A	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	606	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	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)			TGGCCATCACGGCTGTGCCGA	0.592													A	142225981	G	A	142225981	2	1	253	1	0	0	0	0	0	0	0	1	14643	1103	39	1		1	SLC45A4	8	142225981	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	23490	142225981	4138041	379	125977											
ZFP41	286128	broad.mit.edu	37	chr8	144332292	144332292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagtgcagtgagtgtggGcggatctttaagcacaagac	14	6	1	3	rs144267705		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144332292G>A	uc003yxw.2	+	2	637	c.279G>A	c.(277-279)GGG>GGA	p.G93G	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	93	C2H2-type 1.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			GTGAGTGTGGGCGGATCTTTA	0.517													A	144332292	G	A	144332292	2	1	253	1	0	0	0	0	0	0	0	1	17646	1190	42	2		2	ZFP41	8	144332292	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2106311	144332292	2031730	380	125978											
TOP1MT	116447	broad.mit.edu	37	chr8	144391652	144391652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatggcgagagcccaggCgaacctctcccgctgtgttt	12	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144391652C>T	uc003yxz.2	-	14	1784	c.1765G>A	c.(1765-1767)GCC>ACC	p.A589T	TOP1MT_uc011lkd.1_Missense_Mutation_p.A491T|TOP1MT_uc011lke.1_Missense_Mutation_p.A491T|TOP1MT_uc010mfb.2_Missense_Mutation_p.A491T|TOP1MT_uc011lkf.1_3'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	589					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	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)	AGAGCCCAGGCGAACCTCTCC	0.517													T	144391652	C	T	144391652	3	4	253	1	0	0	0	0	1	0	0	0	16361	768	27	1	44	1	TOP1MT	8	144391652	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	59360	144391652	1972370	381	125979											
PYCRL	65263	broad.mit.edu	37	chr8	144688646	144688646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatactcacgaaggccacGccactgccactgaggccagt	10	15	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144688646G>A	uc003yyy.2	-	4	586	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PYCRL_uc011lkm.1_Silent_p.G172G|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	180					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAAGGCCACGCCACTGCCAC	0.652													A	144688646	G	A	144688646	2	1	253	1	0	0	0	0	0	0	0	1	12857	1074	38	1		1	PYCRL	8	144688646	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	296994	144688646	1675376	382	125980											
EPPK1	83481	broad.mit.edu	37	chr8	144940460	144940460	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcatggcctggaagAgggagatctgctgcccggtg	15	11	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:144940460A>C	uc003zaa.1	-	2	14985	c.14972T>G	c.(14971-14973)CTC>CGC	p.L4991R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4991	Plectin 63.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			GGCCTGGAAGAGGGAGATCTG	0.706													C	144940460	A	C	144940460	3	2	253	1	0	0	0	0	1	0	0	0	5190	304	11	5	304	5	EPPK1	8	144940460	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	251814	144940460	1423562	383	125981											
PLEC	5339	broad.mit.edu	37	chr8	145008551	145008551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcagcttgccccactcCttctccacatccagcgggtg	9	17	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:145008551C>A	uc003zaf.1	-	11	1685	c.1515G>T	c.(1513-1515)AAG>AAT	p.K505N	PLEC_uc003zab.1_Missense_Mutation_p.K368N|PLEC_uc003zac.1_Missense_Mutation_p.K372N|PLEC_uc003zad.2_Missense_Mutation_p.K368N|PLEC_uc003zae.1_Missense_Mutation_p.K336N|PLEC_uc003zag.1_Missense_Mutation_p.K346N|PLEC_uc003zah.2_Missense_Mutation_p.K354N|PLEC_uc003zaj.2_Missense_Mutation_p.K395N	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	505	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCCCCACTCCTTCTCCACAT	0.667													A	145008551	C	A	145008551	3	1	253	1	0	0	0	0	1	0	0	0	12052	680	24	5	12627	5	PLEC	8	145008551	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	68091	145008551	1355471	384	125982											
CPSF1	29894	broad.mit.edu	37	chr8	145625454	145625454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcgcagtccagggtgAtccgcacaccctcctgggtg	14	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr8:145625454A>G	uc003zcj.2	-	10	1034	c.959T>C	c.(958-960)ATC>ACC	p.I320T	CPSF1_uc003zck.1_Missense_Mutation_p.I270T|CPSF1_uc011lle.1_Missense_Mutation_p.I320T	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	320					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			skin(1)	1	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)			GTCCAGGGTGATCCGCACACC	0.577													G	145625454	A	G	145625454	3	3	253	1	0	0	0	0	1	0	0	0	3824	333	12	3	3488	3	CPSF1	8	145625454	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	616903	145625454	738568	385	125983											
DMRT2	10655	broad.mit.edu	37	chr9	1056568	1056568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatttcttctaatgtcagCgtggccacaacttatagaca	6	10	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:1056568C>T	uc003zha.2	+	4	1181	c.981C>T	c.(979-981)AGC>AGT	p.S327S	DMRT2_uc003zgx.3_Silent_p.S94S|DMRT2_uc010mgz.2_Silent_p.S94S|DMRT2_uc003zgy.3_Silent_p.S171S|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.S327S	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	327					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTAATGTCAGCGTGGCCACAA	0.463													T	1056568	C	T	1056568	2	4	253	1	0	0	0	0	0	0	0	1	4586	767	27	1		1	DMRT2	9	1056568	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08		1056568	140156863	386	125984											
SMARCA2	6595	broad.mit.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	10	14	0	0	rs62639301	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:2039779G>A	uc003zhc.2	+	4	768	c.669G>A	c.(667-669)CAG>CAA	p.Q223Q	SMARCA2_uc003zhd.2_Silent_p.Q223Q|SMARCA2_uc010mha.2_Silent_p.Q214Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	223	Poly-Gln.				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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.274													A	2039779	G	A	2039779	2	1	253	1	0	0	0	0	0	0	0	1	14769	962	34	2		2	SMARCA2	9	2039779	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	983211	2039779	139173652	387	125985											
KCNV2	169522	broad.mit.edu	37	chr9	2718442	2718442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcggaggaactcttccgcGacatgcgcttctacggcccg	13	14	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:2718442G>A	uc003zho.1	+	1	917	c.703G>A	c.(703-705)GAC>AAC	p.D235N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	235	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ACTCTTCCGCGACATGCGCTT	0.687													A	2718442	G	A	2718442	3	1	253	1	0	0	0	0	1	0	0	0	8095	1058	37	1	705	1	KCNV2	9	2718442	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	678663	2718442	138494989	388	125986											
RANBP6	26953	broad.mit.edu	37	chr9	6015587	6015587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacggtcgccggcaccccTgcagacgcggttgccgccat	13	17	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:6015587T>C	uc003zjr.2	-	1	32	c.21A>G	c.(19-21)GCA>GCG	p.A7A	RANBP6_uc011lmf.1_Silent_p.A7A|RANBP6_uc003zjs.2_5'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	7					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CCGGCACCCCTGCAGACGCGG	0.602													C	6015587	T	C	6015587	2	2	253	1	0	0	0	0	0	0	0	1	13031	1567	55	3		3	RANBP6	9	6015587	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	3297145	6015587	135197844	389	125987											
PTPRD	5789	broad.mit.edu	37	chr9	8485953	8485953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatatccctataaagaaggGtatacttggtgataatgcca	9	6	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:8485953G>T	uc003zkk.2	-	27	3575	c.2864C>A	c.(2863-2865)ACC>AAC	p.T955N	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T946N|PTPRD_uc003zkm.2_Missense_Mutation_p.T942N|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	955	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		ATAAAGAAGGGTATACTTGGT	0.478										TSP Lung(15;0.13)			T	8485953	G	T	8485953	3	4	253	1	0	0	0	0	1	0	0	0	12799	1261	44	5	3018	5	PTPRD	9	8485953	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2470366	8485953	132727478	390	125988											
FREM1	158326	broad.mit.edu	37	chr9	14859191	14859191	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacatcatacgggactctggGaaaaaactgtgtggctgatc	12	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:14859191G>A	uc003zlm.2	-	4	1211	c.621C>T	c.(619-621)TTC>TTT	p.F207F	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	207					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GGGACTCTGGGAAAAAACTGT	0.502													A	14859191	G	A	14859191	2	1	253	1	0	0	0	0	0	0	0	1	6044	1165	41	4		4	FREM1	9	14859191	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6373238	14859191	126354240	391	125989											
CNTLN	54875	broad.mit.edu	37	chr9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-													ggcgacaaataagagagcttAaaaaaatgaagaaaaacagg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:17484353delA	uc003zmz.2	+	24	3939	c.3913delA	c.(3913-3915)AAAfs	p.K1305fs	CNTLN_uc003zmy.2_Frame_Shift_Del_p.K1306fs|CNTLN_uc010mio.2_Frame_Shift_Del_p.K985fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1306	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGAGCTTAAAAAAATGAA	0.398													-	17484353	A	-	17484353	7	5	253	1	0	1	0	1	0	0	0	0	3639	363	13	0	4040	0	CNTLN	9	17484353	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	2625162	17484353	123729078	392	125990											
CDKN2A	1029	broad.mit.edu	37	chr9	21974721	21974722	+	Frame_Shift_Ins	INS	-	-	C													ttcggtgcgttgggcagcgcINSccccgcctccagcagcgccc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:21974720_21974721G>GC	uc003zpk.3	-	0	412_413	c.106_107C>GC	c.(106-108)gcgfs	p.A36fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Frame_Shift_Ins_p.A36fs|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.A36fs|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	36					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.A36T(4)|p.G35E(3)|p.G35fs*13(2)|p.V28_V51del(2)|p.G35R(2)|p.0(1)|p.E33fs*8(1)|p.L37fs*6(1)|p.A36fs*8(1)|p.G35V(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)		GTTGGGCAGCGCCCCCGCCTCC	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			C	21974722	-	C	21974721	7	5	253	1	0	1	1	0	0	0	0	0	3161	739	26	0	577	0	CDKN2A	9	21974721	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	4490368	21974721	119238710	393	125991											
UNC13B	10497	broad.mit.edu	37	chr9	35380501	35380501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaccgcattaaggtgCgtgtatgggatgaggatgat	14	7	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:35380501C>T	uc003zwq.2	+	17	2285	c.1993C>T	c.(1993-1995)CGT>TGT	p.R665C	UNC13B_uc003zwr.2_Missense_Mutation_p.R665C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	665	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CATTAAGGTGCGTGTATGGGA	0.493													T	35380501	C	T	35380501	3	4	253	1	0	0	0	0	1	0	0	0	16982	768	27	1	2059	1	UNC13B	9	35380501	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	13405780	35380501	105832930	394	125992											
RUSC2	9853	broad.mit.edu	37	chr9	35558199	35558199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccacacctacaggcaaaGctgggaaacagttctgtgag	10	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:35558199G>T	uc003zww.2	+	7	3321	c.3066G>T	c.(3064-3066)AAG>AAT	p.K1022N	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.K1022N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1022						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TACAGGCAAAGCTGGGAAACA	0.607													T	35558199	G	T	35558199	3	4	253	1	0	0	0	0	1	0	0	0	13751	962	34	5	3088	5	RUSC2	9	35558199	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	177698	35558199	105655232	395	125993											
TRPM3	80036	broad.mit.edu	37	chr9	73151247	73151247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttctcgctctggatgGcagcaagttaagtcctccac	9	13	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:73151247G>A	uc004aid.2	-	25	4990	c.4746C>T	c.(4744-4746)TGC>TGT	p.C1582C	TRPM3_uc004ahu.2_Silent_p.C1424C|TRPM3_uc004ahv.2_Silent_p.C1384C|TRPM3_uc004ahw.2_Silent_p.C1454C|TRPM3_uc004ahx.2_Silent_p.C1441C|TRPM3_uc004ahy.2_Silent_p.C1444C|TRPM3_uc004ahz.2_Silent_p.C1431C|TRPM3_uc004aia.2_Silent_p.C1429C|TRPM3_uc004aib.2_Silent_p.C1419C|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1607	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GCTCTGGATGGCAGCAAGTTA	0.542													A	73151247	G	A	73151247	2	1	253	1	0	0	0	0	0	0	0	1	16584	1195	42	2		2	TRPM3	9	73151247	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	37593048	73151247	68062184	396	125994											
TLE4	7091	broad.mit.edu	37	chr9	82267586	82267587	+	Frame_Shift_Ins	INS	-	-	C													acacccttcagggctccagcINScccctgccattccacccatc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:82267585_82267586G>GC	uc004ald.3	+	6	1296_1297	c.447_448G>GC	c.(445-450)cagcccfs	p.Q149fs	TLE4_uc004alc.3_Frame_Shift_Ins_p.Q156fs|TLE4_uc010mpr.3_Frame_Shift_Ins_p.Q35fs|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Frame_Shift_Ins_p.Q124fs|TLE4_uc010mps.3_Frame_Shift_Ins_p.Q149fs|TLE4_uc004alf.3_Frame_Shift_Ins_p.Q95fs	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	36										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						CAGGGCTCCAGCCCCCTGCCAT	0.54													C	82267587	-	C	82267586	7	5	253	1	0	1	1	0	0	0	0	0	15938	739	26	0	495	0	TLE4	9	82267586	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	9116339	82267586	58945845	397	125995											
FLJ46321	389763	broad.mit.edu	37	chr9	84606266	84606266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccattgattcttgtgctcGtcatcacggaccaccaatcc	6	15	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:84606266G>A	uc004amn.2	+	4	928	c.881G>A	c.(880-882)CGT>CAT	p.R294H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	294						integral to membrane					0						TCTTGTGCTCGTCATCACGGA	0.463													A	84606266	G	A	84606266	3	1	253	1	0	0	0	0	1	0	0	0	5932	1145	40	1	895	1	FLJ46321	9	84606266	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2338680	84606266	56607165	398	125996											
KIF27	55582	broad.mit.edu	37	chr9	86504110	86504110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccaacagcatctgacttCgtgttcgaaatccagcaaat	7	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:86504110C>T	uc004ana.2	-	7	2012	c.1868G>A	c.(1867-1869)CGA>CAA	p.R623Q	KIF27_uc010mpw.2_Missense_Mutation_p.R623Q|KIF27_uc010mpx.2_Missense_Mutation_p.R623Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	623					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						CATCTGACTTCGTGTTCGAAA	0.428													T	86504110	C	T	86504110	3	4	253	1	0	0	0	0	1	0	0	0	8296	884	31	1	2385	1	KIF27	9	86504110	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1897844	86504110	54709321	399	125997											
AGTPBP1	23287	broad.mit.edu	37	chr9	88204537	88204537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagggtttcacataacacAtctttccgaaaatagatttg	7	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:88204537A>G	uc011ltd.1	-	19	2661	c.2628T>C	c.(2626-2628)GAT>GAC	p.D876D	AGTPBP1_uc004aod.3_Silent_p.D502D|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.D836D|AGTPBP1_uc011lte.1_Silent_p.D888D	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	876					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			ovary(4)|large_intestine(2)|skin(1)	7						CACATAACACATCTTTCCGAA	0.338													G	88204537	A	G	88204537	2	3	253	1	0	0	0	0	0	0	0	1	400	214	8	3		3	AGTPBP1	9	88204537	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1700427	88204537	53008894	400	125998											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967763	88967763	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaggaattctaggtccagGtttgaattctctccagttgt	9	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:88967763G>T	uc004aoq.2	-	2	567	c.352C>A	c.(352-354)CCT>ACT	p.P118T	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aou.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aov.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aow.2_Missense_Mutation_p.P118T|ZCCHC6_uc010mqf.1_Missense_Mutation_p.P118T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	118					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						CTAGGTCCAGGTTTGAATTCT	0.423													T	88967763	G	T	88967763	3	4	253	1	0	0	0	0	1	0	0	0	17589	1261	44	5	4239	5	ZCCHC6	9	88967763	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	763226	88967763	52245668	401	125999											
ROR2	4920	broad.mit.edu	37	chr9	94493360	94493360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgctgcagggcccacgGctggcactggtggcctgact	18	12	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:94493360G>A	uc004arj.1	-	7	1214	c.1015C>T	c.(1015-1017)CCG>TCG	p.P339S	ROR2_uc004ari.1_Missense_Mutation_p.P199S|ROR2_uc004ark.2_Missense_Mutation_p.P339S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	339	Extracellular (Potential).|Kringle.				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						AGGGCCCACGGCTGGCACTGG	0.612													A	94493360	G	A	94493360	3	1	253	1	0	0	0	0	1	0	0	0	13527	1203	42	2	1828	2	ROR2	9	94493360	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5525597	94493360	46720071	402	126000											
KIAA1529	57653	broad.mit.edu	37	chr9	100124717	100124717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccagtgctacctctgCaggcaggtaggacacaaagc	12	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:100124717C>T	uc011lut.1	+	40	5218	c.4445C>T	c.(4444-4446)GCA>GTA	p.A1482V	KIAA1529_uc004axe.1_Missense_Mutation_p.A1277V|KIAA1529_uc004axg.1_Missense_Mutation_p.A1343V|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.A462V	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GCTACCTCTGCAGGCAGGTAG	0.582													T	100124717	C	T	100124717	3	4	253	1	0	0	0	0	1	0	0	0	8240	710	25	2	3944	2	KIAA1529	9	100124717	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5631357	100124717	41088714	403	126001											
NCBP1	4686	broad.mit.edu	37	chr9	100416081	100416081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatgattcttttgtaggTgatctttgcagagctgtttc	9	7	3	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:100416081T>C	uc004axq.2	+	11	1520	c.1061T>C	c.(1060-1062)GTG>GCG	p.V354A		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	354					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			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				CTTTTGTAGGTGATCTTTGCA	0.413													C	100416081	T	C	100416081	3	2	253	1	0	0	0	0	1	0	0	0	10211	1710	59	3	1103	3	NCBP1	9	100416081	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	291364	100416081	40797350	404	126002											
FOXE1	2304	broad.mit.edu	37	chr9	100617252	100617252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggaggggccagtgcaggCgcctaccatgctcgccatgc	14	15	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:100617252C>T	uc004axu.2	+	1	1716	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	352					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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				0		Acute lymphoblastic leukemia(62;0.158)				CCAGTGCAGGCGCCTACCATG	0.647													T	100617252	C	T	100617252	2	4	253	1	0	0	0	0	0	0	0	1	6003	755	27	1		1	FOXE1	9	100617252	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	201171	100617252	40596179	405	126003											
INVS	27130	broad.mit.edu	37	chr9	103035301	103035301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaggtcagaaaagccttccGagacaggaaaaatctcctca	8	11	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:103035301G>A	uc004bap.1	+	12	1939	c.1727G>A	c.(1726-1728)CGA>CAA	p.R576Q	INVS_uc010mta.1_Missense_Mutation_p.R480Q|INVS_uc011lve.1_Missense_Mutation_p.R480Q|INVS_uc004bao.1_Missense_Mutation_p.R576Q|INVS_uc004baq.1_Missense_Mutation_p.R480Q|INVS_uc004bar.1_Missense_Mutation_p.R480Q|INVS_uc010mtb.1_Missense_Mutation_p.R250Q	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	576	IQ 1.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				AAAGCCTTCCGAGACAGGAAA	0.488													A	103035301	G	A	103035301	3	1	253	1	0	0	0	0	1	0	0	0	7787	1058	37	1	1769	1	INVS	9	103035301	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2418049	103035301	38178130	406	126004											
ZNF462	58499	broad.mit.edu	37	chr9	109690581	109690581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctagcttcagccaaccCcgccatatcctccaccccat	5	20	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:109690581C>T	uc004bcz.2	+	3	4677	c.4388C>T	c.(4387-4389)CCC>CTC	p.P1463L	ZNF462_uc010mto.2_Missense_Mutation_p.P1311L|ZNF462_uc004bda.2_Missense_Mutation_p.P1311L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1463					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TCAGCCAACCCCGCCATATCC	0.532													T	109690581	C	T	109690581	3	4	253	1	0	0	0	0	1	0	0	0	17923	623	22	4	4394	4	ZNF462	9	109690581	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6655280	109690581	31522850	407	126005											
ZNF462	58499	broad.mit.edu	37	chr9	109773168	109773168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagagatcatggagaacAgtgttaaaatgccctccata	8	8	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:109773168A>G	uc004bcz.2	+	13	7667	c.7378A>G	c.(7378-7380)AGT>GGT	p.S2460G	ZNF462_uc010mto.2_Missense_Mutation_p.S2369G|ZNF462_uc004bda.2_Missense_Mutation_p.S2368G|ZNF462_uc011lvz.1_Missense_Mutation_p.S417G|uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2460					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CATGGAGAACAGTGTTAAAAT	0.423													G	109773168	A	G	109773168	3	3	253	1	0	0	0	0	1	0	0	0	17923	188	7	3	7424	3	ZNF462	9	109773168	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	82587	109773168	31440263	408	126006											
KIAA1958	158405	broad.mit.edu	37	chr9	115422066	115422066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctaccatgagcattcccGgggacacaaacagtgccctt	9	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:115422066G>A	uc004bgf.1	+	4	2043	c.1868G>A	c.(1867-1869)CGG>CAG	p.R623Q	KIAA1958_uc011lwx.1_Missense_Mutation_p.R651Q	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	623										skin(1)	1						GAGCATTCCCGGGGACACAAA	0.592													A	115422066	G	A	115422066	3	1	253	1	0	0	0	0	1	0	0	0	8264	1116	39	1	1878	1	KIAA1958	9	115422066	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5648898	115422066	25791365	409	126007											
COL27A1	85301	broad.mit.edu	37	chr9	117063971	117063971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcccccagggtcctcccGgccccagagggcggcccggc	14	19	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:117063971G>A	uc011lxl.1	+	55	4819	c.4819G>A	c.(4819-4821)GGC>AGC	p.G1607S	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1607	Pro-rich.|Collagen-like 16.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GGGTCCTCCCGGCCCCAGAGG	0.632													A	117063971	G	A	117063971	3	1	253	1	0	0	0	0	1	0	0	0	3685	1116	39	1	5037	1	COL27A1	9	117063971	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1641905	117063971	24149460	410	126008											
COL27A1	85301	broad.mit.edu	37	chr9	117066886	117066886	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgtcttttccttgcccAgcaacaagatgatcttgggg	9	12	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:117066886A>G	uc011lxl.1	+	57	4873	c.4873_splice	c.e57-2	p.Q1625_splice	COL27A1_uc004bii.2_Splice_Site|COL27A1_uc011lxn.1_5'Flank	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor						cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TTCCTTGCCCAGCAACAAGAT	0.597													G	117066886	A	G	117066886	5	3	253	1	0	0	0	0	0	0	1	0	3685	202	7	3	5097	3	COL27A1	9	117066886	Splice_Site	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2915	117066886	24146545	411	126009											
TNC	3371	broad.mit.edu	37	chr9	117848730	117848730	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcctccccagtatagcccTcatcacacacacactgccca	4	19	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:117848730T>G	uc004bjj.3	-	3	1642	c.1280A>C	c.(1279-1281)GAG>GCG	p.E427A	TNC_uc010mvf.2_Missense_Mutation_p.E427A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	427	EGF-like 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AGTATAGCCCTCATCACACAC	0.577													G	117848730	T	G	117848730	3	3	253	1	0	0	0	0	1	0	0	0	16267	1551	54	5	5429	5	TNC	9	117848730	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	781844	117848730	23364701	412	126010											
ASTN2	23245	broad.mit.edu	37	chr9	119382591	119382591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccatacatacgtacacCggctgcagaagggggctgca	15	11	0	1	rs111633658	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:119382591C>T	uc004bjs.1	-	18	3305	c.3204G>A	c.(3202-3204)CCG>CCA	p.P1068P	ASTN2_uc004bjr.1_Silent_p.P1064P|ASTN2_uc004bjt.1_Silent_p.P1017P|ASTN2_uc004bjp.1_Silent_p.P161P|ASTN2_uc004bjq.1_Silent_p.P120P|ASTN2_uc011lxr.1_Silent_p.P120P|ASTN2_uc011lxs.1_Silent_p.P120P|ASTN2_uc011lxt.1_Silent_p.P120P|ASTN2_uc004bjv.1_Silent_p.P120P	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1068	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						ATACGTACACCGGCTGCAGAA	0.582													T	119382591	C	T	119382591	2	4	253	1	0	0	0	0	0	0	0	1	1065	639	23	1		1	ASTN2	9	119382591	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1533861	119382591	21830840	413	126011											
OR1J4	26219	broad.mit.edu	37	chr9	125282057	125282057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattactctaccactaatatGcatcttgatctcttatggcc	4	12	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:125282057G>A	uc011lyw.1	+	1	638	c.638G>A	c.(637-639)TGC>TAC	p.C213Y		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCACTAATATGCATCTTGATC	0.483													A	125282057	G	A	125282057	3	1	253	1	0	0	0	0	1	0	0	0	10961	1319	46	2	640	2	OR1J4	9	125282057	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5899466	125282057	15931374	414	126012											
SH2D3C	10044	broad.mit.edu	37	chr9	130536608	130536608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggactcttgggcaccGtcaccatgtcatcctgcgtg	13	13	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:130536608G>A	uc004bsc.2	-	2	318	c.176C>T	c.(175-177)ACG>ATG	p.T59M	SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.T3M	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	59					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						CTTGGGCACCGTCACCATGTC	0.577													A	130536608	G	A	130536608	3	1	253	1	0	0	0	0	1	0	0	0	14234	1145	40	1	2583	1	SH2D3C	9	130536608	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5254551	130536608	10676823	415	126013											
FAM102A	399665	broad.mit.edu	37	chr9	130707096	130707096	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaaatcctggctctgcacGatcttctccacgatggcatc	9	13	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:130707096G>A	uc004bsx.1	-	9	1078	c.999C>T	c.(997-999)ATC>ATT	p.I333I	FAM102A_uc004bsw.1_Silent_p.I191I|FAM102A_uc004bsy.1_Silent_p.I61I	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	333										ovary(1)	1						GGCTCTGCACGATCTTCTCCA	0.672													A	130707096	G	A	130707096	2	1	253	1	0	0	0	0	0	0	0	1	5382	1048	37	1		1	FAM102A	9	130707096	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	170488	130707096	10506335	416	126014											
CIZ1	25792	broad.mit.edu	37	chr9	130932369	130932369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcaggtgttgcaccagCgccttggtggaggctccctg	16	12	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:130932369C>T	uc004btt.2	-	12	2124	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	CIZ1_uc004btr.2_Missense_Mutation_p.R626H|CIZ1_uc004bts.2_Missense_Mutation_p.R625H|CIZ1_uc011maq.1_Missense_Mutation_p.R593H|CIZ1_uc004btu.2_Missense_Mutation_p.R574H|CIZ1_uc011mar.1_Missense_Mutation_p.R553H|CIZ1_uc011mas.1_Missense_Mutation_p.R684H|CIZ1_uc004btw.2_Missense_Mutation_p.R598H|CIZ1_uc004btv.2_Missense_Mutation_p.R654H	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	654						nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						GTTGCACCAGCGCCTTGGTGG	0.532													T	130932369	C	T	130932369	3	4	253	1	0	0	0	0	1	0	0	0	3441	768	27	1	759	1	CIZ1	9	130932369	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	225273	130932369	10281062	417	126015											
GLE1	2733	broad.mit.edu	37	chr9	131287597	131287597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaagaggaggcaggatgaaGaagaggcccaggtaaagctg	16	6	0	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:131287597G>A	uc004bvj.2	+	7	1138	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K	GLE1_uc004bvi.2_Missense_Mutation_p.E342K|GLE1_uc010myd.2_Missense_Mutation_p.E88K	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	342	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0						GCAGGATGAAGAAGAGGCCCA	0.607													A	131287597	G	A	131287597	3	1	253	1	0	0	0	0	1	0	0	0	6435	943	33	4	1050	4	GLE1	9	131287597	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	355228	131287597	9925834	418	126016											
SPTAN1	6709	broad.mit.edu	37	chr9	131353800	131353800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtcagggttttgtgccGgctgcgtacgtgaagaaatt	14	7	1	2	rs140279996	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:131353800G>A	uc004bvl.3	+	22	3164	c.3051G>A	c.(3049-3051)CCG>CCA	p.P1017P	SPTAN1_uc011mbg.1_Silent_p.P1017P|SPTAN1_uc011mbh.1_Silent_p.P1029P|SPTAN1_uc004bvm.3_Silent_p.P1017P|SPTAN1_uc004bvn.3_Silent_p.P1017P	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3.		P -> S (in a breast cancer sample; somatic mutation).		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	p.P1017S(1)		breast(5)|ovary(4)|pancreas(1)	10						GTTTTGTGCCGGCTGCGTACG	0.527													A	131353800	G	A	131353800	2	1	253	1	0	0	0	0	0	0	0	1	15116	1103	39	1		1	SPTAN1	9	131353800	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	66203	131353800	9859631	419	126017											
CEL	1056	broad.mit.edu	37	chr9	135942250	135942250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccccctacaacaagggccTcatccggcgagccatcagcc	8	19	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:135942250T>C	uc010naa.1	+	6	720	c.704T>C	c.(703-705)CTC>CCC	p.L235P		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	232					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			pancreas(1)	1				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)		AACAAGGGCCTCATCCGGCGA	0.632													C	135942250	T	C	135942250	3	2	253	1	0	0	0	0	1	0	0	0	3209	1551	54	3	726	3	CEL	9	135942250	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	4588450	135942250	5271181	420	126018											
RALGDS	5900	broad.mit.edu	37	chr9	135978616	135978616	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcctgcagctgcttaCcttcctcctcttctcaaagt	8	15	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:135978616C>T	uc004cco.2	-	12	1811	c.1791_splice	c.e12+1	p.K597_splice	RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_Splice_Site|RALGDS_uc004ccq.2_Splice_Site_p.K585_splice|RALGDS_uc004ccr.2_Splice_Site_p.K596_splice|RALGDS_uc011mcv.1_Splice_Site_p.K568_splice|RALGDS_uc004ccs.2_Splice_Site_p.K542_splice|RALGDS_uc011mcw.1_Splice_Site_p.K668_splice|RALGDS_uc004ccv.1_Splice_Site_p.K366_splice|RALGDS_uc004ccu.1_Splice_Site_p.K366_splice	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CAGCTGCTTACCTTCCTCCTC	0.537			T	CIITA	PMBL|Hodgkin Lymphona|						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	135978616	C	T	135978616	5	4	253	1	0	0	0	0	0	0	1	0	13016	521	18	4	980	4	RALGDS	9	135978616	Splice_Site	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	36366	135978616	5234815	421	126019											
OBP2B	29989	broad.mit.edu	37	chr9	136082718	136082718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtacatgagcttcctgcCcccatctgtagatgacagag	10	12	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:136082718C>T	uc004ccz.2	-	4	325	c.283G>A	c.(283-285)GGC>AGC	p.G95S	OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.G27S	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B precursor	95					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		AGCTTCCTGCCCCCATCTGTA	0.552													T	136082718	C	T	136082718	3	4	253	1	0	0	0	0	1	0	0	0	10811	623	22	4	241	4	OBP2B	9	136082718	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	104102	136082718	5130713	422	126020											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713203	138713203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctccgccggccttcCggaacgggaattccggcctt	11	16	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:138713203C>T	uc004cgr.3	-	11	3304	c.3304G>A	c.(3304-3306)GGA>AGA	p.G1102R	CAMSAP1_uc004cgq.3_Missense_Mutation_p.G992R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.G824R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1102						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCGGCCTTCCGGAACGGGAA	0.647													T	138713203	C	T	138713203	3	4	253	1	0	0	0	0	1	0	0	0	2611	661	23	1	1532	1	CAMSAP1	9	138713203	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2630485	138713203	2500228	423	126021											
NOTCH1	4851	broad.mit.edu	37	chr9	139409965	139409965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcagaagcagaggtAggcgttgtcgcggtcctggc	16	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:139409965A>C	uc004chz.2	-	11	1873	c.1873T>G	c.(1873-1875)TAC>GAC	p.Y625D	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	625	Extracellular (Potential).|EGF-like 16; 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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGCAGAGGTAGGCGTTGTCG	0.721			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			C	139409965	A	C	139409965	3	2	253	1	0	0	0	0	1	0	0	0	10547	420	15	5	5890	5	NOTCH1	9	139409965	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	696762	139409965	1803466	424	126022											
CLIC3	9022	broad.mit.edu	37	chr9	139889995	139889995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagctgcgagccgggggcGaagtccttcagcacgtccgg	17	13	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:139889995G>A	uc004ckj.1	-	3	197	c.168C>T	c.(166-168)TTC>TTT	p.F56F		NM_004669	NP_004660	O95833	CLIC3_HUMAN	chloride intracellular channel 3	56	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCCGGGGGCGAAGTCCTTCA	0.706													A	139889995	G	A	139889995	2	1	253	1	0	0	0	0	0	0	0	1	3527	1049	37	1		1	CLIC3	9	139889995	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	480030	139889995	1323436	425	126023											
FAM166A	401565	broad.mit.edu	37	chr9	140140301	140140301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcggaaagaagccggCatagctgtggagggaagaga	17	7	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr9:140140301C>T	uc004cmi.1	-	2	116	c.61G>A	c.(61-63)GCC>ACC	p.A21T		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	21										ovary(1)	1						AAGAAGCCGGCATAGCTGTGG	0.552													T	140140301	C	T	140140301	3	4	253	1	0	0	0	0	1	0	0	0	5481	710	25	2	916	2	FAM166A	9	140140301	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	250306	140140301	1073130	426	126024											
KIN	22944	broad.mit.edu	37	chr10	7817765	7817765	+	Splice_Site	DEL	A	A	-													cgtaaaagtagggacctcctAaaaaaaagaaagttttaagg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318													-	7817765	A	-	7817765	8	5	253	1	0	1	0	1	0	0	1	0	8315	377	13	0		0	KIN	10	7817765	Splice_Site	DEL	A	TCGA-HJ-7597-01A-21D-2201-08		7817765	127716982	427	126025											
CCDC3	83643	broad.mit.edu	37	chr10	13043355	13043356	+	Frame_Shift_Ins	INS	-	-	C													cctcggccgagtagaagaggINScccccctggccggcgtggta							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:13043355_13043356insC	uc001ilq.1	-	1	349_350	c.215_216insG	c.(214-216)GGCfs	p.G72fs	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_Intron|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	72						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AGTAGAAGAGGCCCCCCTGGCC	0.713													C	13043356	-	C	13043355	7	5	253	1	0	1	1	0	0	0	0	0	2804	1190	42	0	608	0	CCDC3	10	13043355	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	5225590	13043355	122491392	428	126026											
VIM	7431	broad.mit.edu	37	chr10	17271730	17271731	+	Frame_Shift_Ins	INS	-	-	A													agaacacccgcaccaacgagINSaaggtggagctgcaggagct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:17271730_17271731insA	uc001iou.2	+	2	722_723	c.309_310insA	c.(307-312)GAGAAGfs	p.E103fs	uc001iot.1_RNA|VIM_uc001iov.1_Frame_Shift_Ins_p.E103fs|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ioy.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ipc.1_Frame_Shift_Ins_p.E103fs	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	103_104	Rod.|Coil 1A.				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			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GCACCAACGAGAAGGTGGAGCT	0.619													A	17271731	-	A	17271730	7	5	253	1	0	1	1	0	0	0	0	0	17163	933	33	0	311	0	VIM	10	17271730	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	4228375	17271730	118263017	429	126027											
MLLT10	8028	broad.mit.edu	37	chr10	22002772	22002772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgggatctagtactcctGtctccagctctcacttacct	7	15	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:22002772G>A	uc001iqs.2	+	15	2167	c.1819G>A	c.(1819-1821)GTC>ATC	p.V607I	MLLT10_uc001iqt.2_Missense_Mutation_p.V591I|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.V591I|MLLT10_uc001ira.2_Missense_Mutation_p.V48I|MLLT10_uc001irb.2_RNA	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	607	DNA-binding.				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			lung(1)|skin(1)	2						TAGTACTCCTGTCTCCAGCTC	0.443			T	MLL|PICALM|CDK6	AL								A	22002772	G	A	22002772	3	1	253	1	0	0	0	0	1	0	0	0	9626	1377	48	4	1873	4	MLLT10	10	22002772	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4731042	22002772	113531975	430	126028											
KIAA1217	56243	broad.mit.edu	37	chr10	24669980	24669983	+	Frame_Shift_Del	DEL	GAAA	GAAA	-													gtgaggtcaaccaaccagacGaaagaaagatctctgggtaa					rs61735612		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:24669979_24669982CGAAA>C	uc001iru.4	+	2	939_942	c.536_539CGAAA>C	c.(535-540)acgaaafs	p.T179fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.T99fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.T179fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.T179fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.T179fs|KIAA1217_uc001irv.1_Frame_Shift_Del_p.T29fs|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	179					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						ACCAACCAGACGAAAGAAAGATCT	0.475													-	24669983	GAAA	-	24669980	7	5	253	1	0	1	0	1	0	0	0	0	8216	1045	37	0	547	0	KIAA1217	10	24669980	Frame_Shift_Del	DEL	GAAA	TCGA-HJ-7597-01A-21D-2201-08	2667208	24669980	110864767	431	126029											
KIAA1462	57608	broad.mit.edu	37	chr10	30315989	30315989	+	Frame_Shift_Del	DEL	C	C	-													cagggacagtgggagccctgCccccctctctccaccactgt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:30315988_30315988GC>G	uc009xle.2	-	2	3226	c.3089_3089GC>C	c.(3088-3090)gcafs	p.A1030fs	KIAA1462_uc001iux.3_Frame_Shift_Del_p.A1030fs|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Frame_Shift_Del_p.A892fs	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1030										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						TGGGAGCCCTGCCCCCCTCTC	0.587													-	30315989	C	-	30315989	7	5	253	1	0	1	0	1	0	0	0	0	8234	739	26	0	999	0	KIAA1462	10	30315989	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	5646009	30315989	105218758	432	126030											
FRMPD2	143162	broad.mit.edu	37	chr10	49440209	49440209	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcgaggttggcaaaggAtgtcacggcattgaagacag	13	8	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:49440209A>T	uc001jgi.2	-	10	1224	c.1117T>A	c.(1117-1119)TCC>ACC	p.S373T	FRMPD2_uc001jgh.2_Missense_Mutation_p.S342T|FRMPD2_uc001jgj.2_Missense_Mutation_p.S351T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	373	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TTGGCAAAGGATGTCACGGCA	0.532													T	49440209	A	T	49440209	3	4	253	1	0	0	0	0	1	0	0	0	6058	333	12	5	2892	5	FRMPD2	10	49440209	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	19124220	49440209	86094538	433	126031											
C10orf72	196740	broad.mit.edu	37	chr10	50315809	50315809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggcgcagcctccgcCgtttggcgctgcggctgaaa	14	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:50315809C>T	uc001jhf.2	-	2	316	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	C10orf72_uc001jhh.2_Missense_Mutation_p.R96Q	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	96	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						CAGCCTCCGCCGTTTGGCGCT	0.607													T	50315809	C	T	50315809	3	4	253	1	0	0	0	0	1	0	0	0	1615	652	23	1	826	1	C10orf72	10	50315809	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	875600	50315809	85218938	434	126032											
DRGX	644168	broad.mit.edu	37	chr10	50574403	50574403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcccatggggtctgggaCgcagcaagagcacagtgggc	17	10	1	1	rs143541395	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:50574403C>T	uc010qgq.1	-	6	565	c.565G>A	c.(565-567)GTC>ATC	p.V189I		NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	189					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGTCTGGGACGCAGCAAGAG	0.607													T	50574403	C	T	50574403	3	4	253	1	0	0	0	0	1	0	0	0	4763	536	19	1	244	1	DRGX	10	50574403	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	258594	50574403	84960344	435	126033											
NCOA4	8031	broad.mit.edu	37	chr10	51584688	51584688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttagaaaactggctcctcAagagtgaaaaatcaagttat	8	7	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:51584688A>G	uc001jis.3	+	8	990	c.787A>G	c.(787-789)AAG>GAG	p.K263E	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.K279E|NCOA4_uc010qhd.1_Missense_Mutation_p.K279E|NCOA4_uc010qhe.1_Missense_Mutation_p.K163E|NCOA4_uc010qhf.1_Missense_Mutation_p.K97E|NCOA4_uc001jit.2_Missense_Mutation_p.K263E|NCOA4_uc009xoo.2_Missense_Mutation_p.K263E	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	263					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						CTGGCTCCTCAAGAGTGAAAA	0.388			T	RET	papillary thyroid 								G	51584688	A	G	51584688	3	3	253	1	0	0	0	0	1	0	0	0	10231	131	5	3	865	3	NCOA4	10	51584688	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1010285	51584688	83950059	436	126034											
FAM21A	387680	broad.mit.edu	37	chr10	51829407	51829407	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaaaccaaagccacagAttgtcgcctgcataatgtct	9	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:51829407A>T	uc001jjb.2	+	3	309	c.227A>T	c.(226-228)GAT>GTT	p.D76V	uc001jiz.1_5'Flank|FAM21A_uc001jja.1_5'UTR|FAM21A_uc010qhi.1_Missense_Mutation_p.D76V|FAM21A_uc010qhj.1_Missense_Mutation_p.D76V	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN	hypothetical protein LOC387680	76					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				ovary(1)	1						AAAGCCACAGATTGTCGCCTG	0.383													T	51829407	A	T	51829407	3	4	253	1	0	0	0	0	1	0	0	0	5540	333	12	5	237	5	FAM21A	10	51829407	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	244719	51829407	83705340	437	126035											
CTNNA3	29119	broad.mit.edu	37	chr10	68940148	68940148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctgcgataatccgctctCggtgtaagtccctcgtacat	8	12	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:68940148C>T	uc009xpn.1	-	7	1097	c.974G>A	c.(973-975)CGA>CAA	p.R325Q	CTNNA3_uc001jmw.2_Missense_Mutation_p.R325Q|CTNNA3_uc001jmx.3_Missense_Mutation_p.R325Q|CTNNA3_uc009xpo.1_Missense_Mutation_p.R185Q|CTNNA3_uc001jna.2_Missense_Mutation_p.R337Q	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	325	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						AATCCGCTCTCGGTGTAAGTC	0.512													T	68940148	C	T	68940148	3	4	253	1	0	0	0	0	1	0	0	0	4014	884	31	1	1761	1	CTNNA3	10	68940148	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	17110741	68940148	66594599	438	126036											
PSAP	5660	broad.mit.edu	37	chr10	73581689	73581689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttggaggccactttggCggggaccagagtctgcatgg	15	9	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:73581689C>T	uc001jsm.2	-	8	957	c.853G>A	c.(853-855)GCC>ACC	p.A285T	PSAP_uc001jsl.2_Missense_Mutation_p.A9T	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	285					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						GCCACTTTGGCGGGGACCAGA	0.542													T	73581689	C	T	73581689	3	4	253	1	0	0	0	0	1	0	0	0	12643	768	27	1	749	1	PSAP	10	73581689	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4641541	73581689	61953058	439	126037											
USP54	159195	broad.mit.edu	37	chr10	75290284	75290284	+	Splice_Site	DEL	A	A	-													tctctttcagtgtttctcctAaaaacacaaagaatgaaaga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:75290283_75290283TA>T	uc001juo.3	-	12	1465	c.1448_splice	c.e12-1	p.G483_splice	USP54_uc001juk.3_Splice_Site|USP54_uc001jul.3_Splice_Site|USP54_uc001jum.3_Splice_Site|USP54_uc001jun.3_Splice_Site|USP54_uc001jup.3_Splice_Site_p.G483_splice|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Splice_Site_p.G483_splice	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	483					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)					GTGTTTCTCCTAAAAACACAA	0.398													-	75290284	A	-	75290284	8	5	253	1	0	1	0	1	0	0	1	0	17082	377	13	0		0	USP54	10	75290284	Splice_Site	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	1708595	75290284	60244463	440	126038											
SEC24C	9632	broad.mit.edu	37	chr10	75525233	75525234	+	Frame_Shift_Ins	INS	-	-	G													accgtatgttgtggaccatgINSgggaatctggccctttgcgc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:75525232_75525233T>TG	uc001juw.3	+	9	1431_1432	c.1251_1252T>TG	c.(1249-1254)catgggfs	p.H417fs	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.H275fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.H417fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.H298fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	417					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum 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)					TTGTGGACCATGGGGAATCTGG	0.515													G	75525234	-	G	75525233	7	5	253	1	0	1	1	0	0	0	0	0	13996	1348	47	0	1282	0	SEC24C	10	75525233	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	234949	75525233	60009514	441	126039											
VCL	7414	broad.mit.edu	37	chr10	75842297	75842297	+	Frame_Shift_Del	DEL	C	C	-													gctccgtgaccctagtgcctCcccaggtaaccctctagttc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:75842296_75842296TC>T	uc001jwd.3	+	6	962	c.868_868TC>T	c.(868-870)tccfs	p.S290fs	VCL_uc009xrr.3_Frame_Shift_Del_p.S39fs|VCL_uc010qky.1_Frame_Shift_Del_p.S197fs|VCL_uc001jwe.3_Frame_Shift_Del_p.S290fs|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	290	3 X 112 AA tandem repeats.|N-terminal globular head.				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)					CCCTAGTGCCTCCCCAGGTAA	0.448													-	75842297	C	-	75842297	7	5	253	1	0	1	0	1	0	0	0	0	17136	855	30	0	895	0	VCL	10	75842297	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	317064	75842297	59692450	442	126040											
ZMIZ1	57178	broad.mit.edu	37	chr10	81072446	81072447	+	Frame_Shift_Ins	INS	-	-	C													agctcctgtcttatctggacINSccccccgacctgccgagcaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:81072445_81072446A>AC	uc001kaf.2	+	24	3715_3716	c.3143_3144A>AC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					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)			TCTTATCTGGACCCCCCCGACC	0.559													C	81072447	-	C	81072446	7	5	253	1	0	1	1	0	0	0	0	0	17693	506	18	0	3226	0	ZMIZ1	10	81072446	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	5230149	81072446	54462301	443	126041											
EIF5AL1	143244	broad.mit.edu	37	chr10	81272626	81272626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatatgaagatatctgccCgtcaactcataatatggatg	8	7	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:81272626C>T	uc009xrx.2	+	1	270	c.221C>T	c.(220-222)CCG>CTG	p.P74L	uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like	74					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity				0	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)			GATATCTGCCCGTCAACTCAT	0.498													T	81272626	C	T	81272626	3	4	253	1	0	0	0	0	1	0	0	0	5043	652	23	1	223	1	EIF5AL1	10	81272626	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	200180	81272626	54262121	444	126042											
ANXA11	311	broad.mit.edu	37	chr10	81915622	81915622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgttcagtcattgccaCcacagatcttcagcagaatc	6	13	5	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:81915622C>T	uc001kbq.1	-	17	2330	c.1505G>A	c.(1504-1506)GGT>GAT	p.G502D	ANXA11_uc010qlx.1_Missense_Mutation_p.G602D|ANXA11_uc001kbr.1_Missense_Mutation_p.G502D|ANXA11_uc001kbs.1_Missense_Mutation_p.G502D|ANXA11_uc001kbt.1_Missense_Mutation_p.G502D|ANXA11_uc010qly.1_Missense_Mutation_p.G469D|ANXA11_uc009xsq.1_Missense_Mutation_p.G506D|ANXA11_uc001kbu.1_Missense_Mutation_p.G502D	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	502					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTCATTGCCACCACAGATCTT	0.507													T	81915622	C	T	81915622	3	4	253	1	0	0	0	0	1	0	0	0	716	507	18	4	16	4	ANXA11	10	81915622	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	642996	81915622	53619125	445	126043											
IDE	3416	broad.mit.edu	37	chr10	94297296	94297296	+	Frame_Shift_Del	DEL	T	T	-													tattcattttgctgtaagtcTttttttggaaactgaaaaga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:94297296delT	uc001kia.2	-	2	186	c.110delA	c.(109-111)AAGfs	p.K37fs		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	37					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			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGTAAGTCTTTTTTTGGAA	0.343													-	94297296	T	-	94297296	7	5	253	1	0	1	0	1	0	0	0	0	7493	1609	56	0	3045	0	IDE	10	94297296	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	12381674	94297296	41237451	446	126044											
C10orf28	27291	broad.mit.edu	37	chr10	99968718	99968718	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctttgatcaaacttgcgtaGattttgaagttgagagtgta	10	4	2	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:99968718G>T	uc001kow.3	+	4	1142	c.847G>T	c.(847-849)GAT>TAT	p.D283Y	C10orf28_uc001kox.3_Missense_Mutation_p.D283Y|C10orf28_uc001koy.3_Missense_Mutation_p.D283Y|C10orf28_uc009xvx.2_Missense_Mutation_p.D283Y|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	283							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AACTTGCGTAGATTTTGAAGT	0.423													T	99968718	G	T	99968718	3	4	253	1	0	0	0	0	1	0	0	0	1601	942	33	5	849	5	C10orf28	10	99968718	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5671422	99968718	35566029	447	126045											
LOXL4	84171	broad.mit.edu	37	chr10	100016575	100016575	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacccaggccgagctgtcGgcaggccaccatggcttcgg	13	14	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:100016575G>A	uc001kpa.1	-	9	1541	c.1390C>T	c.(1390-1392)CGA>TGA	p.R464*		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	464	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCGAGCTGTCGGCAGGCCACC	0.602													A	100016575	G	A	100016575	4	1	253	1	0	0	0	0	0	1	0	0	8902	1124	39	1	908	1	LOXL4	10	100016575	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	47857	100016575	35518172	448	126046											
DNMBP	23268	broad.mit.edu	37	chr10	101728961	101728961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttttagactgggaatgGtcacaatttccacaaaactg	7	10	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:101728961G>A	uc001kqj.2	-	3	271	c.179C>T	c.(178-180)ACC>ATC	p.T60I		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	60	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACTGGGAATGGTCACAATTTC	0.408													A	101728961	G	A	101728961	3	1	253	1	0	0	0	0	1	0	0	0	4674	1261	44	4	4614	4	DNMBP	10	101728961	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1712386	101728961	33805786	449	126047											
PKD2L1	9033	broad.mit.edu	37	chr10	102048787	102048787	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagctggggctggctgCgggtgcttccaaatagcttg	15	10	1	0	rs140831551		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:102048787C>A	uc001kqx.1	-	15	2660	c.2277G>T	c.(2275-2277)CCG>CCT	p.P759P	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Silent_p.P712P	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	759	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGGCTGGCTGCGGGTGCTTCC	0.517													A	102048787	C	A	102048787	2	1	253	1	0	0	0	0	0	0	0	1	11967	755	27	5		5	PKD2L1	10	102048787	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	319826	102048787	33485960	450	126048											
SEMA4G	57715	broad.mit.edu	37	chr10	102732747	102732747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccctcactgcggagaccGtctagagaactagatgccac	11	13	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:102732747G>A	uc010qpt.1	+	2	521	c.78G>A	c.(76-78)CCG>CCA	p.P26P	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Silent_p.P26P|SEMA4G_uc001krx.2_Silent_p.P26P|MIR608_hsa-mir-608|MI0003621_5'Flank	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	26	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCGGAGACCGTCTAGAGAAC	0.607													A	102732747	G	A	102732747	2	1	253	1	0	0	0	0	0	0	0	1	14036	1132	40	1		1	SEMA4G	10	102732747	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	683960	102732747	32802000	451	126049											
LZTS2	84445	broad.mit.edu	37	chr10	102762318	102762318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccattgtgcagactctgcCagtgccactggagcctgctc	12	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:102762318C>T	uc001ksj.2	+	2	92	c.23C>T	c.(22-24)CCA>CTA	p.P8L	LZTS2_uc010qpw.1_Missense_Mutation_p.P8L|LZTS2_uc001ksk.2_Missense_Mutation_p.P8L|LZTS2_uc001ksl.2_Missense_Mutation_p.P8L|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	8	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGACTCTGCCAGTGCCACTG	0.657													T	102762318	C	T	102762318	3	4	253	1	0	0	0	0	1	0	0	0	9139	594	21	4	25	4	LZTS2	10	102762318	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	29571	102762318	32772429	452	126050											
FBXW4	6468	broad.mit.edu	37	chr10	103436163	103436163	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctccagttctgagacaccttCactcgttccttcactgggac	7	15	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:103436163C>T	uc001kto.2	-	2	637	c.291G>A	c.(289-291)GTG>GTA	p.V97V		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	97					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGACACCTTCACTCGTTCCT	0.478													T	103436163	C	T	103436163	2	4	253	1	0	0	0	0	0	0	0	1	5767	813	29	4		4	FBXW4	10	103436163	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	673845	103436163	32098584	453	126051											
ELOVL3	83401	broad.mit.edu	37	chr10	103987432	103987432	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggttctcatcgctgtgGggcagaactacatgaaggaa	12	9	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:103987432G>T	uc001kut.2	+	2	314	c.151G>T	c.(151-153)GGG>TGG	p.G51W		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	elongation of very long chain fatty acids like	51					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			ovary(2)	2		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CATCGCTGTGGGGCAGAACTA	0.557													T	103987432	G	T	103987432	3	4	253	1	0	0	0	0	1	0	0	0	5075	1232	43	5	157	5	ELOVL3	10	103987432	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	551269	103987432	31547315	454	126052											
PSD	5662	broad.mit.edu	37	chr10	104176728	104176728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcggggagccagcggCgtgggcatcgtggtggggag	22	9	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:104176728C>T	uc001kvg.1	-	2	595	c.68G>A	c.(67-69)CGC>CAC	p.R23H	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R23H|PSD_uc001kvi.1_Missense_Mutation_p.R23H|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	23	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAGCCAGCGGCGTGGGCATCG	0.711													T	104176728	C	T	104176728	3	4	253	1	0	0	0	0	1	0	0	0	12646	768	27	1	3070	1	PSD	10	104176728	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	189296	104176728	31358019	455	126053											
INA	9118	broad.mit.edu	37	chr10	105046856	105046856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagatggcacgccaccttcGggaataccaggacttgctca	11	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:105046856G>A	uc001kws.2	+	2	1179	c.1130G>A	c.(1129-1131)CGG>CAG	p.R377Q		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	377	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CGCCACCTTCGGGAATACCAG	0.463													A	105046856	G	A	105046856	3	1	253	1	0	0	0	0	1	0	0	0	7730	1116	39	1	1136	1	INA	10	105046856	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	870128	105046856	30487891	456	126054											
PDCD11	22984	broad.mit.edu	37	chr10	105201638	105201638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgtcttcaggcttcgCttggaatgtgggactagact	13	9	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:105201638C>T	uc001kwy.1	+	31	4700	c.4613C>T	c.(4612-4614)GCT>GTT	p.A1538V		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1538					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		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)		TCAGGCTTCGCTTGGAATGTG	0.597													T	105201638	C	T	105201638	3	4	253	1	0	0	0	0	1	0	0	0	11617	797	28	2	4731	2	PDCD11	10	105201638	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	154782	105201638	30333109	457	126055											
CALHM2	51063	broad.mit.edu	37	chr10	105209489	105209489	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgttgaggatgatgccaatGatgaagagcaccagggcggg	16	6	0	5			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:105209489G>A	uc001kwz.2	-	2	596	c.210C>T	c.(208-210)ATC>ATT	p.I70I	CALHM2_uc001kxa.2_Silent_p.I70I|CALHM2_uc001kxc.2_Silent_p.I70I|CALHM2_uc001kxb.2_Silent_p.I70I|CALHM2_uc001kxd.1_Silent_p.I70I	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	70	Helical; (Potential).					integral to membrane				skin(1)	1						TGATGCCAATGATGAAGAGCA	0.642													A	105209489	G	A	105209489	2	1	253	1	0	0	0	0	0	0	0	1	2583	1280	45	4		4	CALHM2	10	105209489	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7851	105209489	30325258	458	126056											
KIAA1598	57698	broad.mit.edu	37	chr10	118674916	118674916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggctgtctgattaacGggtctaagatgaactccctt	11	9	3	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:118674916G>A	uc009xyw.2	-	13	1773	c.1275C>T	c.(1273-1275)CCC>CCT	p.P425P	KIAA1598_uc001lcz.3_Silent_p.P425P|KIAA1598_uc010qso.1_Silent_p.P365P|KIAA1598_uc010qsp.1_Silent_p.P425P|KIAA1598_uc010qsq.1_Silent_p.P365P|KIAA1598_uc001lcy.3_Silent_p.P395P	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	425					axon guidance	axon					0				all cancers(201;0.00494)		TCTGATTAACGGGTCTAAGAT	0.363													A	118674916	G	A	118674916	2	1	253	1	0	0	0	0	0	0	0	1	8246	1103	39	1		1	KIAA1598	10	118674916	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	13465427	118674916	16859831	459	126057											
C10orf46	143384	broad.mit.edu	37	chr10	120460914	120460914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcttggtttcgatgtaaaActtattctgaaaaataaaat	6	4	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:120460914A>G	uc001lds.1	-	5	1184	c.700T>C	c.(700-702)TTT>CTT	p.F234L	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	234					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		TCGATGTAAAACTTATTCTGA	0.299													G	120460914	A	G	120460914	3	3	253	1	0	0	0	0	1	0	0	0	1604	43	2	3	429	3	C10orf46	10	120460914	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1785998	120460914	15073833	460	126058											
WDR11	55717	broad.mit.edu	37	chr10	122661812	122661812	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagaattcactctcttgCagaggtgcctgcttgtttca	8	11	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:122661812C>T	uc010qtf.1	+	22	2969	c.2731C>T	c.(2731-2733)CAG>TAG	p.Q911*	WDR11_uc010qte.1_Nonsense_Mutation_p.Q513*|WDR11_uc001lfd.1_Nonsense_Mutation_p.Q429*|WDR11_uc009xzn.2_Nonsense_Mutation_p.Q202*	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	911	WD 9.					integral to membrane					0						CACTCTCTTGCAGAGGTGCCT	0.343													T	122661812	C	T	122661812	4	4	253	1	0	0	0	0	0	1	0	0	17270	711	25	2	2817	2	WDR11	10	122661812	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2200898	122661812	12872935	461	126059											
C10orf88	80007	broad.mit.edu	37	chr10	124712362	124712365	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													cacctgtcatccaggacagtAcaaacattcttgcccctact							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:124712361_124712364TACAA>T	uc001lgw.2	-	1	574_577	c.349_352TTGTA>A	c.(349-354)tgtactfs	p.C117fs	C10orf88_uc001lgx.2_Frame_Shift_Del_p.C19fs	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	117										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)		TCCAGGACAGTACAAACATTCTTG	0.392													-	124712365	ACAA	-	124712362	7	5	253	1	0	1	0	1	0	0	0	0	1622	389	14	0	1006	0	C10orf88	10	124712362	Frame_Shift_Del	DEL	ACAA	TCGA-HJ-7597-01A-21D-2201-08	2050550	124712362	10822385	462	126060											
ZRANB1	54764	broad.mit.edu	37	chr10	126631810	126631810	+	Frame_Shift_Del	DEL	A	A	-													aggaacttgaagtagactttAaaaaactaaagcaaattaaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:126631810delA	uc001lic.2	+	1	1119	c.748delA	c.(748-750)AAAfs	p.K250fs	ZRANB1_uc010qug.1_Frame_Shift_Del_p.K276fs	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	250					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			ovary(1)|kidney(1)	2		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)		AGTAGACTTTAAAAAACTAAA	0.413													-	126631810	A	-	126631810	7	5	253	1	0	1	0	1	0	0	0	0	18219	363	13	0	750	0	ZRANB1	10	126631810	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	1919448	126631810	8902937	463	126061											
ADAM12	8038	broad.mit.edu	37	chr10	127753389	127753389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtacctggtccccagagcGtgacacactgctgctcgtga	11	14	0	3	rs149776150		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:127753389G>A	uc001ljk.2	-	14	2017	c.1604C>T	c.(1603-1605)ACG>ATG	p.T535M	ADAM12_uc010qul.1_Missense_Mutation_p.T486M|ADAM12_uc001ljm.2_Missense_Mutation_p.T535M|ADAM12_uc001ljn.2_Missense_Mutation_p.T532M|ADAM12_uc001ljl.3_Missense_Mutation_p.T532M	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	535	Extracellular (Potential).|Cys-rich.				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			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		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)		TCCCCAGAGCGTGACACACTG	0.602													A	127753389	G	A	127753389	3	1	253	1	0	0	0	0	1	0	0	0	236	1145	40	1	1273	1	ADAM12	10	127753389	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1121579	127753389	7781358	464	126062											
PTPRE	5791	broad.mit.edu	37	chr10	129881102	129881102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtcttttcaggaacagTatgaattctgctacaaagtg	9	6	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:129881102T>C	uc001lkb.2	+	21	2314	c.2035T>C	c.(2035-2037)TAT>CAT	p.Y679H	PTPRE_uc009yat.2_Missense_Mutation_p.Y690H|PTPRE_uc009yau.2_Missense_Mutation_p.Y679H|PTPRE_uc001lkd.2_Missense_Mutation_p.Y621H|PTPRE_uc010quq.1_Silent_p.S534S	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	679	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(1)	1		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)				TCAGGAACAGTATGAATTCTG	0.254													C	129881102	T	C	129881102	3	2	253	1	0	0	0	0	1	0	0	0	12800	1638	57	3	2148	3	PTPRE	10	129881102	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	2127713	129881102	5653645	465	126063											
MKI67	4288	broad.mit.edu	37	chr10	129899944	129899944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcagtcttattttggcGtctggagcgcagggatattc	12	9	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr10:129899944G>A	uc001lke.2	-	14	9478	c.9283C>T	c.(9283-9285)CGC>TGC	p.R3095C	MKI67_uc001lkf.2_Missense_Mutation_p.R2735C	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3095					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TTATTTTGGCGTCTGGAGCGC	0.368													A	129899944	G	A	129899944	3	1	253	1	0	0	0	0	1	0	0	0	9598	1145	40	1	495	1	MKI67	10	129899944	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	18842	129899944	5634803	466	126064											
MUC2	4583	broad.mit.edu	37	chr11	1085825	1085825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactacgggcgtcaccTgctccaaggccatcaagatc	11	14	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:1085825T>C	uc001lsx.1	+	21	2773	c.2746T>C	c.(2746-2748)TGC>CGC	p.C916R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	916	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	GGGCGTCACCTGCTCCAAGGC	0.642													C	1085825	T	C	1085825	3	2	253	1	0	0	0	0	1	0	0	0	9975	1580	55	3	2828	3	MUC2	11	1085825	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08		1085825	133920691	467	126065											
OR51E1	143503	broad.mit.edu	37	chr11	4674184	4674184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtacttacgttgcctcGtgtcaccaaaattggtgtgg	10	10	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:4674184G>A	uc001lzi.3	+	2	572	c.428G>A	c.(427-429)CGT>CAT	p.R143H		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGTTGCCTCGTGTCACCAAA	0.567													A	4674184	G	A	4674184	3	1	253	1	0	0	0	0	1	0	0	0	11094	1145	40	1	430	1	OR51E1	11	4674184	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3588359	4674184	130332332	468	126066											
OR51B2	79345	broad.mit.edu	37	chr11	5345106	5345106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacactcccactcctaacGctatgactctagtattggtg	7	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:5345106G>A	uc001mao.1	-	1	477	c.422C>T	c.(421-423)GCG>GTG	p.A141V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		CACTCCTAACGCTATGACTCT	0.413													A	5345106	G	A	5345106	3	1	253	1	0	0	0	0	1	0	0	0	11089	1087	38	1	520	1	OR51B2	11	5345106	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	670922	5345106	129661410	469	126067											
TRIM22	10346	broad.mit.edu	37	chr11	5717765	5717765	+	Frame_Shift_Del	DEL	A	A	-													gatgtctgtgagcaccatggAaaaaaactccagatcttctg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:5717764_5717764GA>G	uc001mbr.3	+	1	681	c.302_302GA>G	c.(301-303)ggafs	p.G101fs	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Frame_Shift_Del_p.G101fs|TRIM22_uc010qzm.2_Frame_Shift_Del_p.E7fs|TRIM22_uc009yes.3_Frame_Shift_Del_p.G101fs	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	101					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)		GAGCACCATGGAAAAAAACTC	0.478													-	5717765	A	-	5717765	7	5	253	1	0	1	0	1	0	0	0	0	16493	233	9	0	305	0	TRIM22	11	5717765	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	372659	5717765	129288751	470	126068											
DCHS1	8642	broad.mit.edu	37	chr11	6662451	6662451	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgttgatgtcagccactcGcactgtaacttctacggtgg	11	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:6662451G>A	uc001mem.1	-	2	804	c.394C>T	c.(394-396)CGA>TGA	p.R132*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	132	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCCACTCGCACTGTAACT	0.612													A	6662451	G	A	6662451	4	1	253	1	0	0	0	0	0	1	0	0	4287	1095	38	1	9582	1	DCHS1	11	6662451	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	944686	6662451	128344065	471	126069											
SBF2	81846	broad.mit.edu	37	chr11	9861197	9861197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccattgtagacttctcGgaggccttcagggtggtact	12	9	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:9861197G>A	uc001mib.2	-	26	3441	c.3303C>T	c.(3301-3303)TCC>TCT	p.S1101S	SBF2_uc001mif.3_Silent_p.S857S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1101					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TAGACTTCTCGGAGGCCTTCA	0.453													A	9861197	G	A	9861197	2	1	253	1	0	0	0	0	0	0	0	1	13859	1103	39	1		1	SBF2	11	9861197	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3198746	9861197	125145319	472	126070											
BTBD10	84280	broad.mit.edu	37	chr11	13435172	13435172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatatgccatcaggacaaCggattattcctgttttatag	8	7	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:13435172C>T	uc001mkz.2	-	6	970	c.713G>A	c.(712-714)CGT>CAT	p.R238H	BTBD10_uc010rcl.1_Missense_Mutation_p.R246H|BTBD10_uc001mla.2_Missense_Mutation_p.R222H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.R190H|BTBD10_uc010rcn.1_Missense_Mutation_p.R207H|BTBD10_uc009ygo.2_Missense_Mutation_p.R190H	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	238	BTB.					nucleus					0				Epithelial(150;0.0214)		ATCAGGACAACGGATTATTCC	0.338													T	13435172	C	T	13435172	3	4	253	1	0	0	0	0	1	0	0	0	1538	536	19	1	730	1	BTBD10	11	13435172	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3573975	13435172	121571344	473	126071											
NAV2	89797	broad.mit.edu	37	chr11	19735450	19735450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggctgcaggagccagCgggggaggggctcccgctgc	21	12	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:19735450C>T	uc010rdm.1	+	1	570	c.209C>T	c.(208-210)GCG>GTG	p.A70V	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.A70V|LOC100126784_uc010rdl.1_3'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	70						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CAGGAGCCAGCGGGGGAGGGG	0.617													T	19735450	C	T	19735450	3	4	253	1	0	0	0	0	1	0	0	0	10184	768	27	1	290	1	NAV2	11	19735450	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6300278	19735450	115271066	474	126072											
GAS2	2620	broad.mit.edu	37	chr11	22707287	22707287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcaacttgcagaaacTatgcaggagaaattcaagga	9	8	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:22707287T>C	uc009yie.2	+	3	525	c.219T>C	c.(217-219)ACT>ACC	p.T73T	GAS2_uc001mqm.2_Silent_p.T73T|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Silent_p.T73T	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	73	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						TTGCAGAAACTATGCAGGAGA	0.378													C	22707287	T	C	22707287	2	2	253	1	0	0	0	0	0	0	0	1	6245	1509	53	3		3	GAS2	11	22707287	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	2971837	22707287	112299229	475	126073											
MADD	8567	broad.mit.edu	37	chr11	47303960	47303960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacggttcttcaattccGccaacgtgctgcagggattt	11	10	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:47303960G>A	uc001ner.1	+	9	1689	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	MADD_uc001neq.2_Missense_Mutation_p.A500T|MADD_uc001nev.1_Missense_Mutation_p.A500T|MADD_uc001nes.1_Missense_Mutation_p.A500T|MADD_uc001net.1_Missense_Mutation_p.A500T|MADD_uc009yln.1_Missense_Mutation_p.A500T|MADD_uc001neu.1_Missense_Mutation_p.A500T|MADD_uc001nex.2_Missense_Mutation_p.A500T|MADD_uc001nez.2_Missense_Mutation_p.A500T|MADD_uc001new.2_Missense_Mutation_p.A500T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	500	dDENN.				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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTTCAATTCCGCCAACGTGCT	0.522													A	47303960	G	A	47303960	3	1	253	1	0	0	0	0	1	0	0	0	9152	1087	38	1	1528	1	MADD	11	47303960	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	24596673	47303960	87702556	476	126074											
OR5M9	390162	broad.mit.edu	37	chr11	56230191	56230191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccttcctcctgccatcGgcagagcgcatgcgtagcac	10	16	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:56230191G>A	uc010rjj.1	-	1	687	c.687C>T	c.(685-687)GCC>GCT	p.A229A		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TCCTGCCATCGGCAGAGCGCA	0.502													A	56230191	G	A	56230191	2	1	253	1	0	0	0	0	0	0	0	1	11177	1103	39	1		1	OR5M9	11	56230191	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	8926231	56230191	78776325	477	126075											
OR9G4	283189	broad.mit.edu	37	chr11	56511005	56511005	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacaactggccaggatttTgggggtatacacagaggtat	13	7	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:56511005T>G	uc010rjo.1	-	1	283	c.283A>C	c.(283-285)AAA>CAA	p.K95Q		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GCCAGGATTTTGGGGGTATAC	0.428													G	56511005	T	G	56511005	3	3	253	1	0	0	0	0	1	0	0	0	11251	1821	63	5	703	5	OR9G4	11	56511005	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	280814	56511005	78495511	478	126076											
OR5A1	219982	broad.mit.edu	37	chr11	59211321	59211321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggttacatagtgtctgCggtcctgaagatcccttcag	10	10	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:59211321C>T	uc001nnx.1	+	1	680	c.680C>T	c.(679-681)GCG>GTG	p.A227V		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						ATAGTGTCTGCGGTCCTGAAG	0.532													T	59211321	C	T	59211321	3	4	253	1	0	0	0	0	1	0	0	0	11139	768	27	1	682	1	OR5A1	11	59211321	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2700316	59211321	75795195	479	126077											
AHNAK	79026	broad.mit.edu	37	chr11	62298947	62298947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatctggggcactgacaTctacttttgggcctttcagg	10	11	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:62298947T>C	uc001ntl.2	-	5	3242	c.2942A>G	c.(2941-2943)GAT>GGT	p.D981G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	981					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGCACTGACATCTACTTTTGG	0.458													C	62298947	T	C	62298947	3	2	253	1	0	0	0	0	1	0	0	0	414	1435	50	3	14850	3	AHNAK	11	62298947	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	3087626	62298947	72707569	480	126078											
SLC22A8	9376	broad.mit.edu	37	chr11	62760982	62760982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcccccgaggagggcGgtgatcccgtagatgatatt	14	11	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:62760982G>A	uc001nwo.2	-	10	1579	c.1443C>T	c.(1441-1443)ACC>ACT	p.T481T	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.T481T|SLC22A8_uc009yom.2_Silent_p.T358T|SLC22A8_uc010rmm.1_Silent_p.T390T|SLC22A8_uc009yon.2_Silent_p.T481T	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	481	Helical; (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						CGAGGAGGGCGGTGATCCCGT	0.577													A	62760982	G	A	62760982	2	1	253	1	0	0	0	0	0	0	0	1	14460	1103	39	1		1	SLC22A8	11	62760982	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	462035	62760982	72245534	481	126079											
RCOR2	283248	broad.mit.edu	37	chr11	63681910	63681910	+	Frame_Shift_Del	DEL	C	C	-													tgtcttctttgtccttgcggCcccccagccgccgggcctgt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:63681909_63681909GC>G	uc001nyc.3	-	5	973	c.585_585GC>C	c.(583-585)ggcfs	p.G195fs		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	Homo sapiens REST corepressor 2 (RCOR2), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGTCCTTGCGGCCCCCCAGCC	0.602													-	63681910	C	-	63681910	7	5	253	1	0	1	0	1	0	0	0	0	13183	739	26	0	1015	0	RCOR2	11	63681910	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	920928	63681910	71324606	482	126080											
KCNK4	50801	broad.mit.edu	37	chr11	64066960	64066960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccagcgcagccgctggGcaggccccgatccccttcgc	12	19	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:64066960G>A	uc001nzj.1	+	7	1267	c.944G>A	c.(943-945)GGC>GAC	p.G315D	KCNK4_uc001nzk.1_Silent_p.G199G|KCNK4_uc010rnk.1_Missense_Mutation_p.G143D|KCNK4_uc001nzl.1_Silent_p.G199G|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.G315D|KCNK4_uc001nzo.2_Missense_Mutation_p.G315D|KCNK4_uc001nzp.1_Missense_Mutation_p.G201D|C11orf20_uc009ypm.2_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	TRAAK	315	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CAGCCGCTGGGCAGGCCCCGA	0.617													A	64066960	G	A	64066960	3	1	253	1	0	0	0	0	1	0	0	0	8068	1203	42	2	966	2	KCNK4	11	64066960	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	385050	64066960	70939556	483	126081											
MRPL49	740	broad.mit.edu	37	chr11	64893016	64893016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatgcacaacatccccGtctacaaggacatcacgcat	7	15	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:64893016G>A	uc001oda.1	+	3	377	c.286G>A	c.(286-288)GTC>ATC	p.V96I	MRPL49_uc001ocz.1_RNA	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	96					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						CAACATCCCCGTCTACAAGGA	0.557													A	64893016	G	A	64893016	3	1	253	1	0	0	0	0	1	0	0	0	9813	1145	40	1	296	1	MRPL49	11	64893016	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	826056	64893016	70113500	484	126082											
EHBP1L1	254102	broad.mit.edu	37	chr11	65347416	65347416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcccaggacccccacGtggaccagtatgaggccaaa	9	15	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:65347416G>A	uc001oeo.3	+	4	533	c.268G>A	c.(268-270)GTG>ATG	p.V90M	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	90										central_nervous_system(1)	1						GGACCCCCACGTGGACCAGTA	0.552													A	65347416	G	A	65347416	3	1	253	1	0	0	0	0	1	0	0	0	4976	1145	40	1	282	1	EHBP1L1	11	65347416	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	454400	65347416	69659100	485	126083											
PCNXL3	399909	broad.mit.edu	37	chr11	65397039	65397039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctatgagcacttgacacGttcgctgcagcacacactgt	8	13	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:65397039G>A	uc001oey.2	+	26	4049	c.4049G>A	c.(4048-4050)CGT>CAT	p.R1350H	PCNXL3_uc001oez.2_Missense_Mutation_p.R237H	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1350						integral to membrane					0						CACTTGACACGTTCGCTGCAG	0.567													A	65397039	G	A	65397039	3	1	253	1	0	0	0	0	1	0	0	0	11593	1145	40	1	4151	1	PCNXL3	11	65397039	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	49623	65397039	69609477	486	126084											
SF3B2	10992	broad.mit.edu	37	chr11	65835515	65835515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatttatgacatgtccaCggtgagtacttggaggatac	10	9	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:65835515C>T	uc001ogy.1	+	20	2469	c.2429C>T	c.(2428-2430)ACG>ATG	p.T810M	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	810					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						GACATGTCCACGGTGAGTACT	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65835515	C	T	65835515	3	4	253	1	0	0	0	0	1	0	0	0	14151	550	19	1	2507	1	SF3B2	11	65835515	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	438476	65835515	69171001	487	126085											
KLC2	64837	broad.mit.edu	37	chr11	66033664	66033665	+	Frame_Shift_Ins	INS	-	-	C													aagaagctgcaggggggcacINScccccaggagccccctaacc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:66033663_66033664A>AC	uc010rov.1	+	13	1945_1946	c.1702_1703A>AC	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Ins_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Ins_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Ins_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Ins_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Ins_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Ins_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGAG	0.649													C	66033665	-	C	66033664	7	5	253	1	0	1	1	0	0	0	0	0	8334	507	18	0	1753	0	KLC2	11	66033664	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	198149	66033664	68972852	488	126086											
PELI3	246330	broad.mit.edu	37	chr11	66238782	66238782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcactgagccgccggtcGcacgccaacggggtgaagcc	15	15	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:66238782G>A	uc001oic.3	+	4	458	c.294G>A	c.(292-294)TCG>TCA	p.S98S	PELI3_uc001oib.2_Silent_p.S98S|PELI3_uc001oid.3_Silent_p.S74S|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	98						cytosol	protein binding			ovary(1)	1						GCCGCCGGTCGCACGCCAACG	0.627													A	66238782	G	A	66238782	2	1	253	1	0	0	0	0	0	0	0	1	11723	1074	38	1		1	PELI3	11	66238782	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	205118	66238782	68767734	489	126087											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020197	73020197	+	Frame_Shift_Del	DEL	C	C	-													cgcggcagccaccgacgccaCcccctcggacatgcttcccc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:73020197delC	uc001otu.2	+	1	535	c.514delC	c.(514-516)CCCfs	p.P172fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	172					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				0						ACCGACGCCACCCCCTCGGAC	0.751													-	73020197	C	-	73020197	7	5	253	1	0	1	0	1	0	0	0	0	900	507	18	0	516	0	ARHGEF17	11	73020197	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	6781415	73020197	61986319	490	126088											
MAP6	4135	broad.mit.edu	37	chr11	75298881	75298881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctttagagactctggTaccacagagccttgatcctt	8	11	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:75298881T>C	uc001owu.2	-	4	1730	c.1665A>G	c.(1663-1665)GTA>GTG	p.V555V		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	555	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GAGACTCTGGTACCACAGAGC	0.502													C	75298881	T	C	75298881	2	2	253	1	0	0	0	0	0	0	0	1	9264	1625	57	3		3	MAP6	11	75298881	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	2278684	75298881	59707635	491	126089											
AQP11	282679	broad.mit.edu	37	chr11	77301362	77301362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgatgatgcagatgatgCtggggggcatgtcccccgag	17	9	0	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:77301362C>T	uc001oyj.2	+	1	683	c.325C>T	c.(325-327)CTG>TTG	p.L109L	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	109						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCAGATGATGCTGGGGGGCAT	0.622													T	77301362	C	T	77301362	2	4	253	1	0	0	0	0	0	0	0	1	823	796	28	2		2	AQP11	11	77301362	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2002481	77301362	57705154	492	126090											
ODZ4	26011	broad.mit.edu	37	chr11	78369475	78369475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctgggacacagtgacGttgaccccattctccagggt	11	11	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:78369475G>A	uc001ozl.3	-	34	8401	c.7938C>T	c.(7936-7938)AAC>AAT	p.N2646N	ODZ4_uc001ozk.3_Silent_p.N871N|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2646	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACACAGTGACGTTGACCCCAT	0.562													A	78369475	G	A	78369475	2	1	253	1	0	0	0	0	0	0	0	1	10837	1136	40	1		1	ODZ4	11	78369475	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1068113	78369475	56637041	493	126091											
DYNC2H1	79659	broad.mit.edu	37	chr11	103349968	103349969	+	Frame_Shift_Ins	INS	-	-	A													tgtggagcagctctattcctINSaaaaaatcagtagaatctaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:103349968_103349969insA	uc001pho.2	+	89	13055_13056	c.12911_12912insA	c.(12910-12912)CTAfs	p.L4304fs	DYNC2H1_uc001phn.1_Frame_Shift_Ins_p.L4311fs|DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4304					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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTCTATTCCTAAAAAATCAGT	0.391													A	103349969	-	A	103349968	7	5	253	1	0	1	1	0	0	0	0	0	4846	1522	53	0	13290	0	DYNC2H1	11	103349968	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	24980493	103349968	31656548	494	126092	655	2									
DYNC2H1	79659	broad.mit.edu	37	chr11	103349969	103349970	+	Frame_Shift_Ins	INS	-	-	A													gtggagcagctctattcctaINSaaaaatcagtagaatctaat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:103349968_103349969T>TA	uc001phn.1	+	89	13076_13077	c.12932_12933T>TA	c.(12931-12933)ctafs	p.L4311fs	DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs|DYNC2H1_uc001pho.2_Frame_Shift_Ins_p.L4304fs	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4304					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|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)		GCTCTATTCCTAAAAAATCAGT	0.391													A	103349970	-	A	103349969	7	5	253	1	0	1	1	0	0	0	0	0	4846	349	13	0	13291	0	DYNC2H1	11	103349969	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1	103349969	31656547	495	126093	655	2									
GRIA4	2893	broad.mit.edu	37	chr11	105781166	105781166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctatttggcaggttggTtactggaatgatatggataa	11	4	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:105781166T>C	uc001pix.2	+	10	1610	c.1164T>C	c.(1162-1164)GGT>GGC	p.G388G	GRIA4_uc001piu.1_Silent_p.G388G|GRIA4_uc001piw.2_Silent_p.G388G|GRIA4_uc009yxk.1_Silent_p.G388G	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	388	Extracellular (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	GGCAGGTTGGTTACTGGAATG	0.358													C	105781166	T	C	105781166	2	2	253	1	0	0	0	0	0	0	0	1	6770	1712	60	3		3	GRIA4	11	105781166	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	2431197	105781166	29225350	496	126094											
NPAT	4863	broad.mit.edu	37	chr11	108032226	108032226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctatagatttctcacttCgcaaacccccattttgctgc	5	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:108032226C>T	uc001pjz.3	-	17	3689	c.3587G>A	c.(3586-3588)CGA>CAA	p.R1196Q	NPAT_uc010rvv.1_Missense_Mutation_p.R252Q	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1196					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			ovary(2)	2		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)		TTTCTCACTTCGCAAACCCCC	0.368													T	108032226	C	T	108032226	3	4	253	1	0	0	0	0	1	0	0	0	10566	884	31	1	704	1	NPAT	11	108032226	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2251060	108032226	26974290	497	126095											
PHLDB1	23187	broad.mit.edu	37	chr11	118516346	118516346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgggggcaactcggccTgctcccctgacaacatgtcc	10	18	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:118516346T>C	uc001ptr.1	+	17	3747	c.3394T>C	c.(3394-3396)TGC>CGC	p.C1132R	PHLDB1_uc001pts.2_Missense_Mutation_p.C1132R|PHLDB1_uc001ptt.2_Missense_Mutation_p.C1085R|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.C947R|PHLDB1_uc001ptw.1_Missense_Mutation_p.C487R|PHLDB1_uc009zai.1_Missense_Mutation_p.C168R|PHLDB1_uc001ptx.1_Missense_Mutation_p.C168R|PHLDB1_uc010ryi.1_Missense_Mutation_p.C275R	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1132											0	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)		CAACTCGGCCTGCTCCCCTGA	0.642													C	118516346	T	C	118516346	3	2	253	1	0	0	0	0	1	0	0	0	11851	1580	55	3	3452	3	PHLDB1	11	118516346	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	10484120	118516346	16490170	498	126096											
MFRP	83552	broad.mit.edu	37	chr11	119212402	119212402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaagggggcagaacactGcctagtggggtgcaacgggg	19	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:119212402G>A	uc001pwj.2	-	13	1756	c.1596C>T	c.(1594-1596)GGC>GGT	p.G532G	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.G414G	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCAGAACACTGCCTAGTGGGG	0.647													A	119212402	G	A	119212402	2	1	253	1	0	0	0	0	0	0	0	1	9526	1306	46	2		2	MFRP	11	119212402	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	696056	119212402	15794114	499	126097											
PRDM10	56980	broad.mit.edu	37	chr11	129788598	129788598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctctgcatgtgttcccGtagtttgtcttttcgctatt	7	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:129788598G>A	uc001qfm.2	-	15	2294	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	PRDM10_uc001qfj.2_Missense_Mutation_p.R602W|PRDM10_uc001qfk.2_Missense_Mutation_p.R598W|PRDM10_uc001qfl.2_Missense_Mutation_p.R602W|PRDM10_uc010sbx.1_Missense_Mutation_p.R598W|PRDM10_uc001qfn.2_Missense_Mutation_p.R684W|PRDM10_uc009zcs.1_5'Flank	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	688	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		ATGTGTTCCCGTAGTTTGTCT	0.458													A	129788598	G	A	129788598	3	1	253	1	0	0	0	0	1	0	0	0	12451	1144	40	1	1452	1	PRDM10	11	129788598	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	10576196	129788598	5217918	500	126098											
SNX19	399979	broad.mit.edu	37	chr11	130750601	130750601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttacgggccgtggaaactTaggcaaaactccaccaggcc	10	14	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:130750601T>C	uc001qgk.3	-	9	3222	c.2674A>G	c.(2674-2676)AAG>GAG	p.K892E	SNX19_uc009zcw.2_Missense_Mutation_p.K129E|SNX19_uc010sce.1_Missense_Mutation_p.K272E|SNX19_uc010scf.1_Missense_Mutation_p.K335E|SNX19_uc010scg.1_Missense_Mutation_p.K129E	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	892					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGTGGAAACTTAGGCAAAACT	0.537													C	130750601	T	C	130750601	3	2	253	1	0	0	0	0	1	0	0	0	14890	1763	61	3	316	3	SNX19	11	130750601	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	962003	130750601	4255915	501	126099											
NCAPD3	23310	broad.mit.edu	37	chr11	134047223	134047223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaccatgatggtgtagCgaatgcagagatcgcacatt	11	9	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:134047223C>T	uc001qhd.1	-	23	3518	c.2912G>A	c.(2911-2913)CGC>CAC	p.R971H	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	971					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		GATGGTGTAGCGAATGCAGAG	0.507													T	134047223	C	T	134047223	3	4	253	1	0	0	0	0	1	0	0	0	10206	768	27	1	1636	1	NCAPD3	11	134047223	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3296622	134047223	959293	502	126100											
THYN1	29087	broad.mit.edu	37	chr11	134118753	134118753	+	Frame_Shift_Del	DEL	T	T	-													ggcgagtgaagagaaccataTtttttaaggggccaccagta							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr11:134118752_134118752AT>A	uc001qhf.3	-	6	684	c.582_582AT>T	c.(580-582)aatfs	p.N194fs	THYN1_uc001qhg.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhh.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhi.3_Intron|THYN1_uc001qhj.3_Intron	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	194						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		AGAGAACCATATTTTTTAAGG	0.463													-	134118753	T	-	134118753	7	5	253	1	0	1	0	1	0	0	0	0	15883	1493	52	0	104	0	THYN1	11	134118753	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	71530	134118753	887763	503	126101											
B4GALNT3	283358	broad.mit.edu	37	chr12	665815	665815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttggaacaaggccagcgCgtggtgcggctctcggagta	16	10	1	0	rs150429681	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:665815C>T	uc001qii.1	+	15	2163	c.2163C>T	c.(2161-2163)CGC>CGT	p.R721R	B4GALNT3_uc001qik.1_Silent_p.R270R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	721	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	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)			AAGGCCAGCGCGTGGTGCGGC	0.622													T	665815	C	T	665815	2	4	253	1	0	0	0	0	0	0	0	1	1268	755	27	1		1	B4GALNT3	12	665815	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08		665815	133186080	504	126102											
CACNA1C	775	broad.mit.edu	37	chr12	2659185	2659185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcgagggagaaaactgCggggccaggctggcgtgagt	18	8	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:2659185C>T	uc009zdu.1	+	10	1780	c.1467C>T	c.(1465-1467)TGC>TGT	p.C489C	CACNA1C_uc009zdv.1_Silent_p.C486C|CACNA1C_uc001qkb.2_Silent_p.C489C|CACNA1C_uc001qkc.2_Silent_p.C489C|CACNA1C_uc001qke.2_Silent_p.C489C|CACNA1C_uc001qkf.2_Silent_p.C489C|CACNA1C_uc001qjz.2_Silent_p.C489C|CACNA1C_uc001qkd.2_Silent_p.C489C|CACNA1C_uc001qkg.2_Silent_p.C489C|CACNA1C_uc009zdw.1_Silent_p.C489C|CACNA1C_uc001qkh.2_Silent_p.C489C|CACNA1C_uc001qkl.2_Silent_p.C489C|CACNA1C_uc001qkn.2_Silent_p.C489C|CACNA1C_uc001qko.2_Silent_p.C489C|CACNA1C_uc001qkp.2_Silent_p.C489C|CACNA1C_uc001qkr.2_Silent_p.C489C|CACNA1C_uc001qku.2_Silent_p.C489C|CACNA1C_uc001qkq.2_Silent_p.C489C|CACNA1C_uc001qks.2_Silent_p.C489C|CACNA1C_uc001qkt.2_Silent_p.C489C|CACNA1C_uc001qka.1_Silent_p.C24C|CACNA1C_uc001qki.1_Silent_p.C225C|CACNA1C_uc001qkj.1_Silent_p.C225C|CACNA1C_uc001qkk.1_Silent_p.C225C|CACNA1C_uc001qkm.1_Silent_p.C225C|CACNA1C_uc009zdy.1_Silent_p.C114C|CACNA1C_uc001qkv.1_Silent_p.C59C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	489	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	GAGAAAACTGCGGGGCCAGGC	0.597													T	2659185	C	T	2659185	2	4	253	1	0	0	0	0	0	0	0	1	2540	776	27	1		1	CACNA1C	12	2659185	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1993370	2659185	131192710	505	126103											
KCNA5	3741	broad.mit.edu	37	chr12	5154231	5154231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggggtcatggccccGccctctggccctacggtggc	16	16	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:5154231G>A	uc001qni.2	+	1	1147	c.918G>A	c.(916-918)CCG>CCA	p.P306P		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	306						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						TCATGGCCCCGCCCTCTGGCC	0.706													A	5154231	G	A	5154231	2	1	253	1	0	0	0	0	0	0	0	1	8006	1074	38	1		1	KCNA5	12	5154231	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2495046	5154231	128697664	506	126104											
CD4	920	broad.mit.edu	37	chr12	6924043	6924044	+	Frame_Shift_Ins	INS	-	-	G													caaggggtaaaaacatacagINSggggggaagaccctctccgt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:6924042_6924043A>AG	uc001qqv.2	+	4	749_750	c.491_492A>AG	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Ins_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													G	6924044	-	G	6924043	7	5	253	1	0	1	1	0	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1769812	6924043	126927852	507	126105											
GPR162	27239	broad.mit.edu	37	chr12	6933561	6933561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagcgctactatgcccGcggctgccagttcatagtct	12	14	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:6933561G>A	uc001qqw.1	+	2	1032	c.497G>A	c.(496-498)CGC>CAC	p.R166H	GPR162_uc010sfn.1_Missense_Mutation_p.R166H|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	166	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TACTATGCCCGCGGCTGCCAG	0.587													A	6933561	G	A	6933561	3	1	253	1	0	0	0	0	1	0	0	0	6666	1087	38	1	518	1	GPR162	12	6933561	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	9518	6933561	126918334	508	126106											
A2M	2	broad.mit.edu	37	chr12	9243798	9243798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggaaagagatccttaccCggatgcatttgggaaggtag	13	6	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:9243798C>T	uc001qvk.1	-	19	2581	c.2468G>A	c.(2467-2469)CGG>CAG	p.R823Q	A2M_uc009zgk.1_Missense_Mutation_p.R673Q	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	823					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GATCCTTACCCGGATGCATTT	0.428													T	9243798	C	T	9243798	3	4	253	1	0	0	0	0	1	0	0	0	4	666	23	1	2028	1	A2M	12	9243798	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2310237	9243798	124608097	509	126107											
C12orf59	120939	broad.mit.edu	37	chr12	10339095	10339095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgctgctgctgtctgagcCgccagcaaaatggggaagat	13	11	1	2	rs143637558	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:10339095C>T	uc001qxr.2	+	4	831	c.214C>T	c.(214-216)CGC>TGC	p.R72C	C12orf59_uc001qxq.2_Missense_Mutation_p.R52C			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	72						integral to membrane				ovary(1)	1						CTGTCTGAGCCGCCAGCAAAA	0.582													T	10339095	C	T	10339095	3	4	253	1	0	0	0	0	1	0	0	0	1702	652	23	1	164	1	C12orf59	12	10339095	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1095297	10339095	123512800	510	126108											
ETV6	2120	broad.mit.edu	37	chr12	12022435	12022435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccattgaactgttgcacCgctccaggtcacctatcacg	7	16	2	1	rs149660037	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:12022435C>T	uc001qzz.2	+	5	815	c.541C>T	c.(541-543)CGC>TGC	p.R181C	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	181						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACTGTTGCACCGCTCCAGGTC	0.602			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								T	12022435	C	T	12022435	3	4	253	1	0	0	0	0	1	0	0	0	5283	652	23	1	559	1	ETV6	12	12022435	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1683340	12022435	121829460	511	126109											
GSG1	83445	broad.mit.edu	37	chr12	13256440	13256440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgagtcagttgagagggatCgctcattcactcttgcagcg	12	9	4	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:13256440C>T	uc001rbn.2	-	1	180	c.7G>A	c.(7-9)GAT>AAT	p.D3N	GSG1_uc001rbo.2_Missense_Mutation_p.D3N|GSG1_uc001rbp.2_Missense_Mutation_p.D3N|GSG1_uc001rbq.1_Missense_Mutation_p.D3N	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	Error:Variant_position_missing_in_Q2KHT4_after_alignment						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGAGAGGGATCGCTCATTCAC	0.428													T	13256440	C	T	13256440	3	4	253	1	0	0	0	0	1	0	0	0	6820	884	31	1	1246	1	GSG1	12	13256440	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1234005	13256440	120595455	512	126110											
PLBD1	79887	broad.mit.edu	37	chr12	14688687	14688687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgagcatggctgcataCgtgtaccagcttgagtgagc	12	10	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:14688687C>T	uc001rcc.1	-	6	911	c.750G>A	c.(748-750)ACG>ACA	p.T250T		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	250					lipid catabolic process	extracellular region	hydrolase activity				0						TGGCTGCATACGTGTACCAGC	0.428													T	14688687	C	T	14688687	2	4	253	1	0	0	0	0	0	0	0	1	12025	523	19	1		1	PLBD1	12	14688687	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1432247	14688687	119163208	513	126111											
GUCY2C	2984	broad.mit.edu	37	chr12	14825885	14825885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccaaggtcactggaccGtcataccctagggcaagatc	9	13	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:14825885G>A	uc001rcd.2	-	9	1229	c.1092C>T	c.(1090-1092)GAC>GAT	p.D364D		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	364	Extracellular (Potential).				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			ovary(4)|skin(2)	6						TCACTGGACCGTCATACCCTA	0.448													A	14825885	G	A	14825885	2	1	253	1	0	0	0	0	0	0	0	1	6896	1136	40	1		1	GUCY2C	12	14825885	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	137198	14825885	119026010	514	126112											
RECQL	5965	broad.mit.edu	37	chr12	21639508	21639508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatcaatgggcaaatgaCgagtgtaaaacctaaaagag	11	5	1	3	rs138278747	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:21639508C>T	uc001rex.2	-	6	754	c.406G>A	c.(406-408)GTC>ATC	p.V136I	RECQL_uc001rey.2_Missense_Mutation_p.V136I	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	136	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						GGGCAAATGACGAGTGTAAAA	0.308								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	21639508	C	T	21639508	3	4	253	1	0	0	0	0	1	0	0	0	13201	536	19	1	1587	1	RECQL	12	21639508	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6813623	21639508	112212387	515	126113											
ARNTL2	56938	broad.mit.edu	37	chr12	27543174	27543174	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaactcaaagaagaaaggTatcattttgaaatgtcaagt	7	7	3	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:27543174T>C	uc001rht.1	+	9	937	c.919_splice	c.e9+2	p.E307_splice	ARNTL2_uc001rhw.2_Splice_Site_p.E270_splice|ARNTL2_uc010sjp.1_Splice_Site_p.E270_splice|ARNTL2_uc001rhu.1_Splice_Site_p.E293_splice|ARNTL2_uc009zji.1_Splice_Site_p.E273_splice|ARNTL2_uc001rhv.1_Splice_Site_p.E259_splice|uc001rhx.2_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear						circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGAAGAAAGGTATCATTTTGA	0.323													C	27543174	T	C	27543174	5	2	253	1	0	0	0	0	0	0	1	0	968	1652	57	3	955	3	ARNTL2	12	27543174	Splice_Site	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	5903666	27543174	106308721	516	126114											
PTHLH	5744	broad.mit.edu	37	chr12	28116577	28116577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagttaggggacacctcCgaggtagctctgatttcagc	13	9	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:28116577C>T	uc001rik.2	-	3	531	c.228G>A	c.(226-228)TCG>TCA	p.S76S	PTHLH_uc001ril.2_Silent_p.S76S|PTHLH_uc001rim.2_Silent_p.S76S|PTHLH_uc001rin.2_Silent_p.S76S	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	76					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)	1	Lung SC(9;0.184)					GGGACACCTCCGAGGTAGCTC	0.507													T	28116577	C	T	28116577	2	4	253	1	0	0	0	0	0	0	0	1	12761	639	23	1		1	PTHLH	12	28116577	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	573403	28116577	105735318	517	126115											
CCDC91	55297	broad.mit.edu	37	chr12	28603309	28603309	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaagtgtttggaggaAgaaaggcaaagaaataaaga	13	1	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:28603309A>C	uc001riq.2	+	9	898	c.882A>C	c.(880-882)GAA>GAC	p.E294D	CCDC91_uc001rio.2_Missense_Mutation_p.E264D|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.E294D|CCDC91_uc001rir.2_Missense_Mutation_p.E132D|CCDC91_uc009zjl.2_Missense_Mutation_p.E96D	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	294	Potential.|Homodimerization.				protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTGGAGGAAGAAAGGCAAA	0.328													C	28603309	A	C	28603309	3	2	253	1	0	0	0	0	1	0	0	0	2870	69	3	5	916	5	CCDC91	12	28603309	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	486732	28603309	105248586	518	126116											
BICD1	636	broad.mit.edu	37	chr12	32480566	32480566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaaggctgagctggacGgggagaagggccgggactca	18	9	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:32480566G>A	uc001rku.2	+	5	1258	c.1177G>A	c.(1177-1179)GGG>AGG	p.G393R	BICD1_uc001rkv.2_Missense_Mutation_p.G393R|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	393	Potential.				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			large_intestine(1)|central_nervous_system(1)	2	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)			TGAGCTGGACGGGGAGAAGGG	0.582													A	32480566	G	A	32480566	3	1	253	1	0	0	0	0	1	0	0	0	1428	1116	39	1	1195	1	BICD1	12	32480566	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3877257	32480566	101371329	519	126117											
HDAC7	51564	broad.mit.edu	37	chr12	48189159	48189159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcaagggcccaagcccGggcactggaaagaatcgggg	17	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:48189159G>A	uc010slo.1	-	11	1287	c.1092C>T	c.(1090-1092)CCC>CCT	p.P364P	HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Silent_p.P327P|HDAC7_uc001rqk.3_Silent_p.P347P	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	325	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			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		GCCCAAGCCCGGGCACTGGAA	0.632													A	48189159	G	A	48189159	2	1	253	1	0	0	0	0	0	0	0	1	7012	1103	39	1		1	HDAC7	12	48189159	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	15708593	48189159	85662736	520	126118											
COL2A1	1280	broad.mit.edu	37	chr12	48379540	48379540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaggccaggttctccagGacggccagggtcaccgttgg	16	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:48379540G>A	uc001rqu.2	-	25	1832	c.1651C>T	c.(1651-1653)CCT>TCT	p.P551S	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.P482S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	551	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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTTCTCCAGGACGGCCAGGG	0.647													A	48379540	G	A	48379540	3	1	253	1	0	0	0	0	1	0	0	0	3687	1174	41	4	2932	4	COL2A1	12	48379540	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	190381	48379540	85472355	521	126119											
FKBP11	51303	broad.mit.edu	37	chr12	49318420	49318420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaataatacgtccatcTaccaagcttccctgggggga	10	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:49318420T>C	uc001rsp.2	-	3	326	c.207A>G	c.(205-207)GTA>GTG	p.V69V	FKBP11_uc010sma.1_5'UTR|FKBP11_uc001rsq.3_Silent_p.V69V|FKBP11_uc010smb.1_Silent_p.V69V	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	69	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TACGTCCATCTACCAAGCTTC	0.572											OREG0021773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	49318420	T	C	49318420	2	2	253	1	0	0	0	0	0	0	0	1	5903	1509	53	3		3	FKBP11	12	49318420	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	938880	49318420	84533475	522	126120											
MLL2	8085	broad.mit.edu	37	chr12	49434136	49434136	+	Frame_Shift_Del	DEL	G	G	-													aaaggcaacttcagggggctGgggtcggggtggcttatgca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:49434135_49434135TG>T	uc001rta.4	-	30	7418	c.7418_7418CA>A	c.(7417-7419)cagfs	p.Q2473fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2473	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTCAGGGGGCTGGGGTCGGGG	0.657			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49434136	G	-	49434136	7	5	253	1	0	1	0	1	0	0	0	0	9621	1357	47	0	9292	0	MLL2	12	49434136	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	115716	49434136	84417759	523	126121											
NCKAP5L	57701	broad.mit.edu	37	chr12	50196893	50196893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagacctcgtccagacagCgctcataagtctcccgctgg	9	16	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:50196893C>T	uc009zlk.2	-	4	381	c.179G>A	c.(178-180)CGC>CAC	p.R60H		NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	56	Potential.									central_nervous_system(1)	1						GTCCAGACAGCGCTCATAAGT	0.612													T	50196893	C	T	50196893	3	4	253	1	0	0	0	0	1	0	0	0	10224	768	27	1	3865	1	NCKAP5L	12	50196893	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	762757	50196893	83655002	524	126122											
KRT85	3891	broad.mit.edu	37	chr12	52754649	52754649	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgactctactaggcaaagcgGaccgaccggctactcccgca	10	15	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:52754649G>C	uc001sag.2	-	9	1632	c.1512C>G	c.(1510-1512)GTC>GTG	p.V504V		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	504	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCAAAGCGGACCGACCGGC	0.612													C	52754649	G	C	52754649	2	2	253	1	0	0	0	0	0	0	0	1	8499	1161	41	5		5	KRT85	12	52754649	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2557756	52754649	81097246	525	126123											
KRT76	51350	broad.mit.edu	37	chr12	53170983	53170983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagagcgggccacacaGctcatcctgctgctgccgga	11	18	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:53170983G>A	uc001sax.2	-	1	147	c.93C>T	c.(91-93)AGC>AGT	p.S31S		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	31	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						GGGCCACACAGCTCATCCTGC	0.607													A	53170983	G	A	53170983	2	1	253	1	0	0	0	0	0	0	0	1	8489	962	34	2		2	KRT76	12	53170983	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	416334	53170983	80680912	526	126124											
KRT8	3856	broad.mit.edu	37	chr12	53292586	53292586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcttggcccgctgcAgggcggcctccagctcggac	14	16	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:53292586A>G	uc001sbd.2	-	6	1182	c.1079T>C	c.(1078-1080)CTG>CCG	p.L360P	KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.L388P|KRT8_uc009zml.1_Missense_Mutation_p.L360P|KRT8_uc009zmm.1_Missense_Mutation_p.L360P	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	360	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCGCTGCAGGGCGGCCTC	0.637													G	53292586	A	G	53292586	3	3	253	1	0	0	0	0	1	0	0	0	8493	188	7	3	384	3	KRT8	12	53292586	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	121603	53292586	80559309	527	126125											
TENC1	23371	broad.mit.edu	37	chr12	53455663	53455665	+	In_Frame_Del	DEL	AGG	AGG	-													agggacagtcattcattccaAggagcttatgggctggccct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:53455662_53455664AAGG>A	uc001sbp.3	+	21	3647_3649	c.3512_3514AAGG>A	c.(3511-3516)caagga>cAga	p.G1172del	TENC1_uc001sbl.3_In_Frame_Del_p.G1048del|TENC1_uc001sbn.3_In_Frame_Del_p.G1182del|TENC1_uc001sbq.3_In_Frame_Del_p.G570del|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_In_Frame_Del_p.G667del	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1172	SH2.				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						CATTCATTCCAAGGAGCTTATGG	0.606													-	53455665	AGG	-	53455663	7	5	253	1	0	1	0	1	0	0	0	0	15755	69	3	0	3708	0	TENC1	12	53455663	In_Frame_Del	DEL	AGG	TCGA-HJ-7597-01A-21D-2201-08	163077	53455663	80396232	528	126126											
DNAJC14	85406	broad.mit.edu	37	chr12	56216886	56216886	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcggctacacatcatAgtattcattgcctccttgag	8	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:56216886A>G	uc001shx.1	-	4	1806	c.1602T>C	c.(1600-1602)ACT>ACC	p.T534T	DNAJC14_uc001shu.1_Silent_p.T534T|DNAJC14_uc009zob.1_Silent_p.T534T	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	534					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TACACATCATAGTATTCATTG	0.438													G	56216886	A	G	56216886	2	3	253	1	0	0	0	0	0	0	0	1	4633	407	15	3		3	DNAJC14	12	56216886	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2761223	56216886	77635009	529	126127											
LRP1	4035	broad.mit.edu	37	chr12	57556275	57556275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccccatctttgagatccGaatgtatgatgcccagcagc	9	14	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:57556275G>A	uc001snd.2	+	14	2844	c.2378G>A	c.(2377-2379)CGA>CAA	p.R793Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	793	Extracellular (Potential).				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	p.R793*(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGAGATCCGAATGTATGAT	0.607													A	57556275	G	A	57556275	3	1	253	1	0	0	0	0	1	0	0	0	8951	1058	37	1	2432	1	LRP1	12	57556275	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1339389	57556275	76295620	530	126128											
MBD6	114785	broad.mit.edu	37	chr12	57919936	57919936	+	Frame_Shift_Del	DEL	C	C	-													cctcgggcccctgctcctgtCccccaacccttttctctccc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:57919935_57919935TC>T	uc001soj.1	+	5	1408	c.1184_1184TC>T	c.(1183-1185)gtcfs	p.V395fs	MBD6_uc001sok.1_Frame_Shift_Del_p.V262fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	395	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGCTCCTGTCCCCCAACCC	0.622													-	57919936	C	-	57919936	7	5	253	1	0	1	0	1	0	0	0	0	9348	842	30	0	1199	0	MBD6	12	57919936	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	363661	57919936	75931959	531	126129											
KIF5A	3798	broad.mit.edu	37	chr12	57963882	57963882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcgtggtgcgcatcgcGcccgaggagcggcagaaata	14	12	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:57963882G>A	uc001sor.1	+	12	1438	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A	KIF5A_uc010srr.1_Silent_p.A321A	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	410					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TGCGCATCGCGCCCGAGGAGC	0.642													A	57963882	G	A	57963882	2	1	253	1	0	0	0	0	0	0	0	1	8305	1074	38	1		1	KIF5A	12	57963882	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	43946	57963882	75888013	532	126130											
CTDSP2	10106	broad.mit.edu	37	chr12	58220861	58220861	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctgtcacctctgggAgcaggcaggtccctgggatc	12	14	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:58220861A>C	uc001sqm.2	-	4	801	c.272T>G	c.(271-273)CTC>CGC	p.L91R	CTDSP2_uc010ssg.1_5'Flank|CTDSP2_uc009zqf.2_5'UTR|CTDSP2_uc009zqg.2_Intron|uc001sqn.2_5'Flank|MIR26A2_hsa-mir-26a-2|MI0000750_5'Flank	NM_005730	NP_005721	O14595	CTDS2_HUMAN	nuclear LIM interactor-interacting factor 2	91					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			central_nervous_system(1)	1	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					CACCTCTGGGAGCAGGCAGGT	0.493													C	58220861	A	C	58220861	3	2	253	1	0	0	0	0	1	0	0	0	4004	304	11	5	563	5	CTDSP2	12	58220861	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	256979	58220861	75631034	533	126131											
MDM2	4193	broad.mit.edu	37	chr12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-													cttcatgcaatgaaatgaatCccccccttccatcacattgc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:69233089_69233089TC>T	uc021rad.1	+	9	1107	c.633_633TC>T	c.(631-633)aatfs	p.N211fs	MDM2_uc001sui.3_Frame_Shift_Del_p.N318fs|MDM2_uc009zqx.3_Frame_Shift_Del_p.N263fs|MDM2_uc001sun.4_Frame_Shift_Del_p.N137fs|MDM2_uc009zra.3_Frame_Shift_Del_p.N111fs|MDM2_uc021raf.1_Frame_Shift_Del_p.N2fs|MDM2_uc009zrc.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrd.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zre.3_Frame_Shift_Del_p.N59fs|MDM2_uc001suo.3_Frame_Shift_Del_p.N112fs|MDM2_uc009zrf.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrg.3_Frame_Shift_Del_p.N34fs|MDM2_uc009zrh.3_Frame_Shift_Del_p.N86fs|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Frame_Shift_Del_p.N282fs|MDM2_uc021rai.1_Frame_Shift_Del_p.N2fs|MDM2_uc021raj.1_Frame_Shift_Del_p.N2fs			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	312	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.|Poly-Ser.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTC	0.428			A		"sarcoma, glioma, colorectal, other"								-	69233090	C	-	69233090	7	5	253	1	0	1	0	1	0	0	0	0	9413	855	30	0	997	0	MDM2	12	69233090	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	11012229	69233090	64618805	534	126132											
BEST3	144453	broad.mit.edu	37	chr12	70091427	70091427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacatgtaaagaaaagtacCtgtataccaaacttattgct	6	7	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:70091427C>A	uc001svg.2	-	2	379	c.152G>T	c.(151-153)AGA>ATA	p.R51I	BEST3_uc001svd.1_Missense_Mutation_p.R51I|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	51	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	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)			AGAAAAGTACCTGTATACCAA	0.368													A	70091427	C	A	70091427	3	1	253	1	0	0	0	0	1	0	0	0	1406	695	24	5	1890	5	BEST3	12	70091427	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	858337	70091427	63760468	535	126133											
EPYC	1833	broad.mit.edu	37	chr12	91357958	91357958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggctcccaacaggcagaCgaggtagacacatgtatgct	11	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:91357958C>T	uc001tbk.2	-	7	1037	c.944G>A	c.(943-945)CGT>CAT	p.R315H		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	315					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						AACAGGCAGACGAGGTAGACA	0.383													T	91357958	C	T	91357958	3	4	253	1	0	0	0	0	1	0	0	0	5201	536	19	1	28	1	EPYC	12	91357958	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	21266531	91357958	42493937	536	126134											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452511	100452512	+	Frame_Shift_Ins	INS	-	-	A													gactagcaggactgccagttINSacagcttctacatctttcct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:100452511_100452512insA	uc001tgq.2	-	14	2772_2773	c.2543_2544insT	c.(2542-2544)GTAfs	p.V848fs	UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.V498fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	848										ovary(2)	2						GACTGCCAGTTACAGCTTCTAC	0.411													A	100452512	-	A	100452511	7	5	253	1	0	1	1	0	0	0	0	0	16966	1741	61	0	1882	0	UHRF1BP1L	12	100452511	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	9094553	100452511	33399384	537	126135	656	2									
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452512	100452513	+	Frame_Shift_Ins	INS	-	-	A													actagcaggactgccagttaINScagcttctacatctttcctt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:100452511_100452512T>TA	uc001tgq.3	-	13	2772_2773	c.2543_2544A>TA	c.(2542-2544)gtafs	p.V848fs	UHRF1BP1L_uc001tgp.3_Frame_Shift_Ins_p.V498fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	848										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						GACTGCCAGTTACAGCTTCTAC	0.411													A	100452513	-	A	100452512	7	5	253	1	0	1	1	0	0	0	0	0	16966	391	14	0	1883	0	UHRF1BP1L	12	100452512	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1	100452512	33399383	538	126136	656	2									
DRAM1	55332	broad.mit.edu	37	chr12	102302024	102302024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctttgtctgtggtgtcGtgtacacgctcctacagtcc	11	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:102302024G>A	uc001tix.2	+	4	866	c.403G>A	c.(403-405)GTG>ATG	p.V135M	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	135	Helical; (Potential).				apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						CTGTGGTGTCGTGTACACGCT	0.502													A	102302024	G	A	102302024	3	1	253	1	0	0	0	0	1	0	0	0	4753	1145	40	1	417	1	DRAM1	12	102302024	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1849512	102302024	31549871	539	126137											
HSP90B1	7184	broad.mit.edu	37	chr12	104337021	104337021	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaaagtgagaaaactaAggagagtcgtgaagcagttg	14	4	0	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:104337021A>C	uc001tkb.1	+	13	1919	c.1814A>C	c.(1813-1815)AAG>ACG	p.K605T	HSP90B1_uc010swg.1_Missense_Mutation_p.K270T|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	605					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			ovary(2)|skin(1)	3					Rifabutin(DB00615)	GAGAAAACTAAGGAGAGTCGT	0.423													C	104337021	A	C	104337021	3	2	253	1	0	0	0	0	1	0	0	0	7403	72	3	5	1864	5	HSP90B1	12	104337021	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2034997	104337021	29514874	540	126138											
KIAA1033	23325	broad.mit.edu	37	chr12	105514941	105514941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctggatgaaattattgaTaatcatatcacactgaaaga	6	7	2	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:105514941T>C	uc001tld.2	+	9	711	c.624T>C	c.(622-624)GAT>GAC	p.D208D	KIAA1033_uc010swr.1_Silent_p.D208D|KIAA1033_uc010sws.1_Silent_p.D20D	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	208					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AAATTATTGATAATCATATCA	0.313													C	105514941	T	C	105514941	2	2	253	1	0	0	0	0	0	0	0	1	8206	1403	49	3		3	KIAA1033	12	105514941	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1177920	105514941	28336954	541	126139											
SART3	9733	broad.mit.edu	37	chr12	108926011	108926011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaccttctgtcctctcCatggtgagtaacacttcgca	7	15	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:108926011C>T	uc001tmz.1	-	13	1891	c.1656G>A	c.(1654-1656)ATG>ATA	p.M552I	SART3_uc001tmy.1_Missense_Mutation_p.M78I|SART3_uc009zux.1_Missense_Mutation_p.M164I|SART3_uc010swx.1_Missense_Mutation_p.M516I|SART3_uc010swy.1_Missense_Mutation_p.M438I|SART3_uc010swz.1_Missense_Mutation_p.M552I|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	552					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CTGTCCTCTCCATGGTGAGTA	0.582									Porokeratosis				T	108926011	C	T	108926011	3	4	253	1	0	0	0	0	1	0	0	0	13847	594	21	4	1263	4	SART3	12	108926011	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3411070	108926011	24925884	542	126140											
ANKRD13A	88455	broad.mit.edu	37	chr12	110475232	110475232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgagcgagacaagccGttttgataatgacttgcagc	11	11	0	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:110475232G>A	uc001tpx.2	+	15	1905	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	ANKRD13A_uc010sxw.1_Missense_Mutation_p.R548H|ANKRD13A_uc001tpy.2_Missense_Mutation_p.R149H|ANKRD13A_uc001tpz.2_Missense_Mutation_p.R187H|ANKRD13A_uc001tqa.2_3'UTR	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	549	UIM 2.										0						GAGACAAGCCGTTTTGATAAT	0.577													A	110475232	G	A	110475232	3	1	253	1	0	0	0	0	1	0	0	0	641	1145	40	1	1704	1	ANKRD13A	12	110475232	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1549221	110475232	23376663	543	126141											
SIRT4	23409	broad.mit.edu	37	chr12	120741725	120741725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaattctcctcccaccagCctaaccctgcacactgggct	5	19	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:120741725C>T	uc001tyc.2	+	2	381	c.361C>T	c.(361-363)CCT>TCT	p.P121S		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	121	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				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCACCAGCCTAACCCTGC	0.577													T	120741725	C	T	120741725	3	4	253	1	0	0	0	0	1	0	0	0	14340	739	26	2	363	2	SIRT4	12	120741725	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	10266493	120741725	13110170	544	126142											
KDM2B	84678	broad.mit.edu	37	chr12	121881493	121881496	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													gtgggagcacctgctgctggAagtaagtgagactggatctc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:121881492_121881495GAAGT>G	uc001uat.3	-	16	2657_2660	c.2553_2556ACTTC>C	c.(2551-2556)tacttcfs	p.Y851fs	KDM2B_uc010szy.2_Frame_Shift_Del_p.Y291fs|KDM2B_uc001uaq.3_Frame_Shift_Del_p.Y291fs|KDM2B_uc001uar.3_Frame_Shift_Del_p.Y442fs|KDM2B_uc001uas.3_Intron|KDM2B_uc021rfd.1_Intron|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Frame_Shift_Del_p.Y851fs|KDM2B_uc001uao.3_Frame_Shift_Del_p.Y99fs|KDM2B_uc010szx.2_Frame_Shift_Del_p.Y99fs|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	851					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						CCTGCTGCTGGAAGTAAGTGAGAC	0.681											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	121881496	AAGT	-	121881493	7	5	253	1	0	1	0	1	0	0	0	0	8125	246	9	0	1535	0	KDM2B	12	121881493	Frame_Shift_Del	DEL	AAGT	TCGA-HJ-7597-01A-21D-2201-08	1139768	121881493	11970402	545	126143											
MLXIP	22877	broad.mit.edu	37	chr12	122613694	122613694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcctaggccatcaccaCggaagggaagtactggaaga	12	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:122613694C>T	uc001ubq.2	+	4	617	c.617C>T	c.(616-618)ACG>ATG	p.T206M	MLXIP_uc001ubr.2_Translation_Start_Site|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	206	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	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)		GCCATCACCACGGAAGGGAAG	0.507													T	122613694	C	T	122613694	3	4	253	1	0	0	0	0	1	0	0	0	9636	536	19	1	631	1	MLXIP	12	122613694	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	732201	122613694	11238201	546	126144											
ARL6IP4	51329	broad.mit.edu	37	chr12	123466124	123466126	+	In_Frame_Del	DEL	CTT	CTT	-													tcctggccttccagcctcacCttctccctgcatcacagaga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:123466124_123466126delCTT	uc001ued.2	+	3	591_593	c.536_538delCTT	c.(535-540)CCTTCT>CCT	p.S180del	ARL6IP4_uc001uec.2_Intron|ARL6IP4_uc001uee.2_Intron|ARL6IP4_uc001uef.2_Intron|ARL6IP4_uc001ueg.2_Intron|ARL6IP4_uc009zxt.2_In_Frame_Del_p.S46del|ARL6IP4_uc001ueh.2_Intron|ARL6IP4_uc001uei.2_Intron	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	180	Ser-rich.				RNA splicing	nucleus					0	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)		CCAGCCTCACCTTCTCCCTGCAT	0.483													-	123466126	CTT	-	123466124	7	5	253	1	0	1	0	1	0	0	0	0	943	681	24	0	546	0	ARL6IP4	12	123466124	In_Frame_Del	DEL	CTT	TCGA-HJ-7597-01A-21D-2201-08	852430	123466124	10385771	547	126145											
PITPNM2	57605	broad.mit.edu	37	chr12	123497265	123497265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatggagaatttctccaCgaaaggacaggtgaacctgt	12	8	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:123497265C>T	uc001uej.1	-	4	449	c.310G>A	c.(310-312)GTG>ATG	p.V104M	PITPNM2_uc001uek.1_Missense_Mutation_p.V104M|PITPNM2_uc009zxu.1_Missense_Mutation_p.V104M|hsa-mir-4304|MI0015832_5'Flank	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	104					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		AATTTCTCCACGAAAGGACAG	0.517													T	123497265	C	T	123497265	3	4	253	1	0	0	0	0	1	0	0	0	11951	536	19	1	3827	1	PITPNM2	12	123497265	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	31141	123497265	10354630	548	126146											
RILPL1	353116	broad.mit.edu	37	chr12	123970232	123970232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacaccttggacttgagctCgttcctctcgtgcagcacgt	10	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:123970232C>T	uc001ufe.2	-	5	1158	c.922G>A	c.(922-924)GAG>AAG	p.E308K	RILPL1_uc001ufd.2_Missense_Mutation_p.E157K|RILPL1_uc010tas.1_Missense_Mutation_p.E308K	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	308	RILP-like.				neuroprotection	cytosol					0	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)		GACTTGAGCTCGTTCCTCTCG	0.612													T	123970232	C	T	123970232	3	4	253	1	0	0	0	0	1	0	0	0	13361	893	31	1	301	1	RILPL1	12	123970232	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	472967	123970232	9881663	549	126147											
DNAH10	196385	broad.mit.edu	37	chr12	124358132	124358132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatggtcaacttctcctccCgcaccacgtccatggatatc	6	15	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124358132C>A	uc001uft.3	+	45	7484	c.7459C>A	c.(7459-7461)CGC>AGC	p.R2487S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2487	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		CTTCTCCTCCCGCACCACGTC	0.448													A	124358132	C	A	124358132	3	1	253	1	0	0	0	0	1	0	0	0	4598	652	23	5	7637	5	DNAH10	12	124358132	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	387900	124358132	9493763	550	126148											
DNAH10	196385	broad.mit.edu	37	chr12	124413925	124413925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaccctgccttcaagcCgctggtctacgtgctggcgt	11	17	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124413925C>T	uc001uft.3	+	70	12081	c.12056C>T	c.(12055-12057)CCG>CTG	p.P4019L	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4019	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		GCCTTCAAGCCGCTGGTCTAC	0.527													T	124413925	C	T	124413925	3	4	253	1	0	0	0	0	1	0	0	0	4598	652	23	1	12334	1	DNAH10	12	124413925	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	55793	124413925	9437970	551	126149											
DNAH10	196385	broad.mit.edu	37	chr12	124414289	124414289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccgtggggcagcctcAagtacctaattggagaggta	14	9	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124414289A>G	uc001uft.3	+	71	12266	c.12241A>G	c.(12241-12243)AAG>GAG	p.K4081E	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4081	TPR 5.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		GGGCAGCCTCAAGTACCTAAT	0.562													G	124414289	A	G	124414289	3	3	253	1	0	0	0	0	1	0	0	0	4598	131	5	3	12523	3	DNAH10	12	124414289	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	364	124414289	9437606	552	126150											
NCOR2	9612	broad.mit.edu	37	chr12	124862900	124862900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccgccggcgctttctTcttcttcctccgcgcgttcc	10	19	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124862900T>C	uc010tba.1	-	18	2167	c.2050A>G	c.(2050-2052)AAG>GAG	p.K684E	NCOR2_uc010tay.1_Missense_Mutation_p.K684E|NCOR2_uc010taz.1_Missense_Mutation_p.K684E|NCOR2_uc010tbb.1_Missense_Mutation_p.K684E|NCOR2_uc010tbc.1_Missense_Mutation_p.K683E|NCOR2_uc001ugj.1_Missense_Mutation_p.K684E	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	684	Poly-Lys.				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			skin(3)|ovary(1)	4	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)		GGCGCTTTCTTCTTCTTCCTC	0.662													C	124862900	T	C	124862900	3	2	253	1	0	0	0	0	1	0	0	0	10236	1792	62	3	5638	3	NCOR2	12	124862900	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	448611	124862900	8988995	553	126151											
NCOR2	9612	broad.mit.edu	37	chr12	124911228	124911228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacctggcggtctttgTacaccttcatggggtcggcc	12	12	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:124911228T>C	uc010tba.1	-	11	1385	c.1268A>G	c.(1267-1269)TAC>TGC	p.Y423C	NCOR2_uc010tay.1_Missense_Mutation_p.Y423C|NCOR2_uc010taz.1_Missense_Mutation_p.Y423C|NCOR2_uc010tbb.1_Missense_Mutation_p.Y423C|NCOR2_uc010tbc.1_Missense_Mutation_p.Y422C|NCOR2_uc001ugj.1_Missense_Mutation_p.Y423C|NCOR2_uc001ugk.1_Missense_Mutation_p.Y423C	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	423					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			skin(3)|ovary(1)	4	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)		GCGGTCTTTGTACACCTTCAT	0.607													C	124911228	T	C	124911228	3	2	253	1	0	0	0	0	1	0	0	0	10236	1638	57	3	6448	3	NCOR2	12	124911228	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	48328	124911228	8940667	554	126152											
TMEM132B	114795	broad.mit.edu	37	chr12	126138565	126138565	+	Frame_Shift_Del	DEL	C	C	-													aagtaccaacaaaagcacaaCcccccagtctcccatggaag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:126138564_126138564AC>A	uc001uhe.1	+	8	2553	c.2545_2545AC>A	c.(2545-2547)accfs	p.T849fs	TMEM132B_uc001uhf.1_Frame_Shift_Del_p.T361fs	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	849						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)		CAAAAGCACAACCCCCCAGTC	0.517													-	126138565	C	-	126138565	7	5	253	1	0	1	0	1	0	0	0	0	16043	507	18	0	2580	0	TMEM132B	12	126138565	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	1227337	126138565	7713330	555	126153											
EP400	57634	broad.mit.edu	37	chr12	132514266	132514266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcctttgtgattcctcCggtggtggcagcacccccgt	14	13	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr12:132514266C>T	uc001ujn.2	+	27	5437	c.5402C>T	c.(5401-5403)CCG>CTG	p.P1801L	EP400_uc001ujl.2_Missense_Mutation_p.P1800L|EP400_uc001ujm.2_Missense_Mutation_p.P1720L|SNORA49_uc001ujo.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1837					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		GTGATTCCTCCGGTGGTGGCA	0.632													T	132514266	C	T	132514266	3	4	253	1	0	0	0	0	1	0	0	0	5149	652	23	1	5505	1	EP400	12	132514266	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6375701	132514266	1337629	556	126154											
TPTE2	93492	broad.mit.edu	37	chr13	20056687	20056687	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaagtcgttctaacatActttagccaccaaaaaaaaa	5	8	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:20056687A>T	uc001umd.2	-	5	331	c.120T>A	c.(118-120)AGT>AGA	p.S40R	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.S40R|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	40						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				0		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)		GTTCTAACATACTTTAGCCAC	0.313													T	20056687	A	T	20056687	3	4	253	1	0	0	0	0	1	0	0	0	16428	405	14	5	1516	5	TPTE2	13	20056687	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08		20056687	95113191	557	126155											
RNF17	56163	broad.mit.edu	37	chr13	25378458	25378459	+	Frame_Shift_Ins	INS	-	-	A													tcactaagaagtcactttgaINSaaaaaatactactttacact							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:25378457_25378458G>GA	uc001upr.3	+	14	2022_2023	c.1981_1982G>GA	c.(1981-1983)gaafs	p.E661fs	RNF17_uc010tdd.1_Frame_Shift_Ins_p.E520fs|RNF17_uc010tde.2_Frame_Shift_Ins_p.E661fs|RNF17_uc010aab.3_Intron|RNF17_uc001ups.3_Frame_Shift_Ins_p.E600fs	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	661					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)		AAGTCACTTTGAAAAAAATACT	0.376													A	25378459	-	A	25378458	7	5	253	1	0	1	1	0	0	0	0	0	13461	246	9	0	2040	0	RNF17	13	25378458	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	5321771	25378458	89791420	558	126156											
FLT1	2321	broad.mit.edu	37	chr13	28877424	28877424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttgccttcgctgacGtgcccacagctggaatggca	12	14	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:28877424G>A	uc001usb.3	-	30	4182	c.3897C>T	c.(3895-3897)CAC>CAT	p.H1299H	FLT1_uc010aap.2_Silent_p.H304H|FLT1_uc010aaq.2_Silent_p.H424H|FLT1_uc001usa.3_Silent_p.H517H	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1299	Cytoplasmic (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	CTTCGCTGACGTGCCCACAGC	0.552													A	28877424	G	A	28877424	2	1	253	1	0	0	0	0	0	0	0	1	5941	1136	40	1		1	FLT1	13	28877424	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3498966	28877424	86292454	559	126157											
KBTBD6	89890	broad.mit.edu	37	chr13	41705366	41705366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgagatatgccacatccaTgccctcacgacacagcaagc	7	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:41705366T>C	uc001uxu.1	-	1	1571	c.1282A>G	c.(1282-1284)ATG>GTG	p.M428V	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.M362V|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	428	Kelch 1.						protein binding			ovary(1)|skin(1)	2		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)		GCCACATCCATGCCCTCACGA	0.478													C	41705366	T	C	41705366	3	2	253	1	0	0	0	0	1	0	0	0	7997	1464	51	3	746	3	KBTBD6	13	41705366	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	12827942	41705366	73464512	560	126158											
RCBTB2	1102	broad.mit.edu	37	chr13	49089783	49089783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaagacacaagcctgaCgaattaactgtagttcttct	7	10	2	2	rs146429069		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:49089783C>T	uc001vch.2	-	5	508	c.137G>A	c.(136-138)CGT>CAT	p.R46H	RCBTB2_uc010tgg.1_Missense_Mutation_p.R51H|RCBTB2_uc001vci.2_Missense_Mutation_p.R22H|RCBTB2_uc010tgh.1_5'UTR|RCBTB2_uc001vcj.2_Missense_Mutation_p.R50H|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Missense_Mutation_p.R22H	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	46							Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		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)		ACAAGCCTGACGAATTAACTG	0.368													T	49089783	C	T	49089783	3	4	253	1	0	0	0	0	1	0	0	0	13172	536	19	1	1562	1	RCBTB2	13	49089783	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	7384417	49089783	66080095	561	126159											
LMO7	4008	broad.mit.edu	37	chr13	76397791	76397791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcaccaagcccggacGcaagccaactggcttcaagc	9	18	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:76397791G>A	uc001vjv.2	+	12	2792	c.2032G>A	c.(2032-2034)GCA>ACA	p.A678T	LMO7_uc010thv.1_Missense_Mutation_p.A629T|LMO7_uc001vjt.1_Missense_Mutation_p.A577T|LMO7_uc010thw.1_Missense_Mutation_p.A528T|LMO7_uc001vjw.1_Missense_Mutation_p.A584T	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	963						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGCCCGGACGCAAGCCAACT	0.473													A	76397791	G	A	76397791	3	1	253	1	0	0	0	0	1	0	0	0	8855	1087	38	1	2949	1	LMO7	13	76397791	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	27308008	76397791	38772087	562	126160											
FBXL3	26224	broad.mit.edu	37	chr13	77581488	77581488	+	Frame_Shift_Del	DEL	T	T	-													ctagtccaatagctgacaaaTttttgcaacgttctgcaatg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:77581488delT	uc001vkd.2	-	5	1450	c.1079delA	c.(1078-1080)AATfs	p.N360fs		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	360	LRR 6.				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				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGCTGACAAATTTTTGCAACG	0.433													-	77581488	T	-	77581488	7	5	253	1	0	1	0	1	0	0	0	0	5720	1493	52	0	211	0	FBXL3	13	77581488	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	1183697	77581488	37588390	563	126161											
TPP2	7174	broad.mit.edu	37	chr13	103266508	103266509	+	Frame_Shift_Del	DEL	TA	TA	-													atattggcataaaaaatggcTatgacttctatcctaaggca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:103266507_103266508CTA>C	uc001vpi.4	+	2	454_455	c.351_352CTA>C	c.(349-354)ggctatfs	p.G117fs		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	117					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)					TAAAAAATGGCTATGACTTCTA	0.366													-	103266509	TA	-	103266508	7	5	253	1	0	1	0	1	0	0	0	0	16409	1522	53	0	362	0	TPP2	13	103266508	Frame_Shift_Del	DEL	TA	TCGA-HJ-7597-01A-21D-2201-08	25685020	103266508	11903370	564	126162											
ERCC5	2073	broad.mit.edu	37	chr13	103459886	103459886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaactccaaatccatcccGctctccttgcctccctgata	3	17	1	1	rs145982160		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:103459886G>A	uc001vpu.1	+	1	391	c.269G>A	c.(268-270)CGC>CAC	p.R90H	BIVM_uc001vps.2_Missense_Mutation_p.R90H|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.R90H	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	127					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATCCATCCCGCTCTCCTTGC	0.418			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103459886	G	A	103459886	3	1	253	1	0	0	0	0	1	0	0	0	5216	1087	38	1		1	ERCC5	13	103459886	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	193378	103459886	11709992	565	126163											
LIG4	3981	broad.mit.edu	37	chr13	108862197	108862197	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcattccaccccgtgatcCtttaccccaatatcctccaa	2	18	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:108862197C>A	uc001vqn.2	-	2	1693	c.1420G>T	c.(1420-1422)GGA>TGA	p.G474*	LIG4_uc001vqo.2_Nonsense_Mutation_p.G474*|LIG4_uc010agg.1_Nonsense_Mutation_p.G407*|LIG4_uc010agf.2_Nonsense_Mutation_p.G474*|LIG4_uc001vqp.2_Nonsense_Mutation_p.G474*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	474					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				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCCCGTGATCCTTTACCCCAA	0.438								NHEJ					A	108862197	C	A	108862197	4	1	253	1	0	0	0	0	0	1	0	0	8783	690	24	5	1319	5	LIG4	13	108862197	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5402311	108862197	6307681	566	126164											
SOX1	6656	broad.mit.edu	37	chr13	112722294	112722294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgacgaggccaagcggctgCgcgcgctgcacatgaaggag	16	12	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:112722294C>T	uc001vsb.1	+	1	382	c.322C>T	c.(322-324)CGC>TGC	p.R108C		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	108	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	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)		CAAGCGGCTGCGCGCGCTGCA	0.587													T	112722294	C	T	112722294	3	4	253	1	0	0	0	0	1	0	0	0	14940	768	27	1	324	1	SOX1	13	112722294	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3860097	112722294	2447584	567	126165											
GAS6	2621	broad.mit.edu	37	chr13	114535425	114535425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagaggaggatgccctcGgggtcaaaggtccggaagtc	16	9	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr13:114535425G>A	uc001vud.2	-	10	1143	c.990C>T	c.(988-990)CCC>CCT	p.P330P	GAS6_uc001vug.2_Silent_p.P31P|GAS6_uc001vuf.2_Silent_p.P57P	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	373	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)	4	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)				GGATGCCCTCGGGGTCAAAGG	0.652													A	114535425	G	A	114535425	2	1	253	1	0	0	0	0	0	0	0	1	6249	1103	39	1		1	GAS6	13	114535425	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1813131	114535425	634453	568	126166											
OR4K5	79317	broad.mit.edu	37	chr14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-													gacctaatgtagtagacagcTttttttgtgatcttcctcga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					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)		TAGTAGACAGCTTTTTTTGTG	0.418													-	20389294	T	-	20389294	7	5	253	1	0	1	0	1	0	0	0	0	11073	1609	56	0	531	0	OR4K5	14	20389294	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08		20389294	86960246	569	126167											
RNASE10	338879	broad.mit.edu	37	chr14	20978638	20978638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaggcaaaatgaagcTgaatctggtgcagatctttt	9	9	3	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:20978638T>C	uc010tlj.1	+	1	8	c.8T>C	c.(7-9)CTG>CCG	p.L3P	RNASE10_uc001vxp.2_Missense_Mutation_p.L31P	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	3						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AAAATGAAGCTGAATCTGGTG	0.343													C	20978638	T	C	20978638	3	2	253	1	0	0	0	0	1	0	0	0	13400	1580	55	3	10	3	RNASE10	14	20978638	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	589344	20978638	86370902	570	126168											
FLJ10357	55701	broad.mit.edu	37	chr14	21542131	21542131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttccatgaggggtggcCgctctgcctgcatgaacagg	13	12	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:21542131C>T	uc001vzp.2	+	3	271	c.242C>T	c.(241-243)CCG>CTG	p.P81L	FLJ10357_uc001vzn.1_Missense_Mutation_p.P81L|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	81					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GAGGGGTGGCCGCTCTGCCTG	0.617													T	21542131	C	T	21542131	3	4	253	1	0	0	0	0	1	0	0	0	5926	652	23	1	252	1	FLJ10357	14	21542131	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	563493	21542131	85807409	571	126169											
CHD8	57680	broad.mit.edu	37	chr14	21897334	21897334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggatagttactaccttgGcaggctgcccttgggcattc	12	11	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:21897334G>A	uc001was.1	-	3	261	c.167C>T	c.(166-168)GCC>GTC	p.A56V	CHD8_uc001war.1_5'UTR	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	335	Gln-rich.				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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TACTACCTTGGCAGGCTGCCC	0.562													A	21897334	G	A	21897334	3	1	253	1	0	0	0	0	1	0	0	0	3331	1203	42	2	6885	2	CHD8	14	21897334	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	355203	21897334	85452206	572	126170											
MYH7	4625	broad.mit.edu	37	chr14	23896463	23896464	+	Frame_Shift_Del	DEL	AC	AC	-													actcaccctgtgcagagctgAcacagtctgaaaggacgagc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:23896462_23896463GAC>G	uc001wjx.3	-	16	2048_2049	c.1942_1943GTC>C	c.(1942-1944)tcafs	p.S648fs		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	648	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	ATP binding|actin binding|actin-dependent ATPase activity|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)		GTGCAGAGCTGACACAGTCTGA	0.574													-	23896464	AC	-	23896463	7	5	253	1	0	1	0	1	0	0	0	0	10039	275	10	0	3961	0	MYH7	14	23896463	Frame_Shift_Del	DEL	AC	TCGA-HJ-7597-01A-21D-2201-08	1999129	23896463	83453077	573	126171											
TGM1	7051	broad.mit.edu	37	chr14	24730998	24730998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcggcgcactatcagctcGtcgtactcatactcgtctgt	9	15	3	0	rs145002586	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:24730998G>A	uc001wod.2	-	3	535	c.411C>T	c.(409-411)GAC>GAT	p.D137D	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	137					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTATCAGCTCGTCGTACTCAT	0.577													A	24730998	G	A	24730998	2	1	253	1	0	0	0	0	0	0	0	1	15826	1136	40	1		1	TGM1	14	24730998	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	834535	24730998	82618542	574	126172											
DHRS1	115817	broad.mit.edu	37	chr14	24760357	24760357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctcaccgtccacatcccGaaggccatagcgtcgagcaa	9	16	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:24760357G>A	uc001woj.1	-	8	1062	c.793C>T	c.(793-795)CGG>TGG	p.R265W	DHRS1_uc010aln.1_RNA|DHRS1_uc001wok.2_Missense_Mutation_p.R265W	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	265						endoplasmic reticulum	binding|oxidoreductase activity				0				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TCCACATCCCGAAGGCCATAG	0.607													A	24760357	G	A	24760357	3	1	253	1	0	0	0	0	1	0	0	0	4486	1057	37	1	156	1	DHRS1	14	24760357	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	29359	24760357	82589183	575	126173											
G2E3	55632	broad.mit.edu	37	chr14	31071299	31071302	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													gagtcatcacctaaattaccCagacagtcacctggatccca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:31071298_31071301CCAGA>C	uc001wqk.2	+	9	1125_1128	c.971_974CCAGA>C	c.(970-975)cccagafs	p.P324fs	G2E3_uc010tpe.1_Frame_Shift_Del_p.P239fs|G2E3_uc010tpf.1_Frame_Shift_Del_p.P278fs	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	324					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.R325K(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTAAATTACCCAGACAGTCACCT	0.348													-	31071302	CAGA	-	31071299	7	5	253	1	0	1	0	1	0	0	0	0	6140	581	21	0	1006	0	G2E3	14	31071299	Frame_Shift_Del	DEL	CAGA	TCGA-HJ-7597-01A-21D-2201-08	6310942	31071299	76278241	576	126174											
ARHGAP5	394	broad.mit.edu	37	chr14	32560445	32560445	+	Frame_Shift_Del	DEL	A	A	-													tttgtccagttatcaaaatcAaaaaaacctgtaataatagc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:32560445delA	uc001wrl.2	+	2	809	c.570delA	c.(568-570)TCAfs	p.S190fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	190					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		TATCAAAATCAAAAAAACCTG	0.308													-	32560445	A	-	32560445	7	5	253	1	0	1	0	1	0	0	0	0	886	117	5	0	572	0	ARHGAP5	14	32560445	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	1489146	32560445	74789095	577	126175											
BAZ1A	11177	broad.mit.edu	37	chr14	35272177	35272177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttctgctattttataCgttgaaagagatgatgcctt	8	6	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:35272177C>T	uc001wsk.2	-	7	1312	c.744G>A	c.(742-744)ACG>ACA	p.T248T	BAZ1A_uc001wsl.2_Silent_p.T248T|BAZ1A_uc001wsm.1_Silent_p.T248T	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	248					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		CTATTTTATACGTTGAAAGAG	0.373													T	35272177	C	T	35272177	2	4	253	1	0	0	0	0	0	0	0	1	1329	523	19	1		1	BAZ1A	14	35272177	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2711732	35272177	72077363	578	126176											
RPL10L	140801	broad.mit.edu	37	chr14	47120831	47120831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttttgccttctttctacCcaggtcaaagatgcggatct	7	12	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:47120831C>T	uc001wwg.2	-	1	198	c.109G>A	c.(109-111)GGT>AGT	p.G37S		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	37					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						TTCTTTCTACCCAGGTCAAAG	0.532													T	47120831	C	T	47120831	3	4	253	1	0	0	0	0	1	0	0	0	13556	623	22	4	539	4	RPL10L	14	47120831	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	11848654	47120831	60228709	579	126177											
NID2	22795	broad.mit.edu	37	chr14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-													gggcacgtactggtcatcccGgggggtgccaccgtagtgct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:52481918_52481918CG>C	uc001wzo.3	-	14	3338	c.3104_3104CG>G	c.(3103-3105)cggfs	p.R1035fs	NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1035	Thyroglobulin type-1 2.					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)					CTGGTCATCCCGGGGGGTGCC	0.627													-	52481919	G	-	52481919	7	5	253	1	0	1	0	1	0	0	0	0	10415	1115	39	0	1056	0	NID2	14	52481919	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	5361088	52481919	54867621	580	126178											
TRMT5	57570	broad.mit.edu	37	chr14	61446529	61446529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaagctactggaatcaaCgattttgattcagttatgct	8	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:61446529C>T	uc001xff.3	-	2	178	c.87G>A	c.(85-87)TCG>TCA	p.S29S	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	29						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CTGGAATCAACGATTTTGATT	0.363													T	61446529	C	T	61446529	2	4	253	1	0	0	0	0	0	0	0	1	16564	523	19	1		1	TRMT5	14	61446529	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8964610	61446529	45903011	581	126179											
SYT16	83851	broad.mit.edu	37	chr14	62551036	62551036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgtacaatgccacaacGgggcgattatctgtggaaat	10	10	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:62551036G>A	uc001xfu.1	+	5	1754	c.1557G>A	c.(1555-1557)ACG>ACA	p.T519T	SYT16_uc010tse.1_Silent_p.T77T	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	519	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATGCCACAACGGGGCGATTAT	0.537													A	62551036	G	A	62551036	2	1	253	1	0	0	0	0	0	0	0	1	15469	1103	39	1		1	SYT16	14	62551036	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1104507	62551036	44798504	582	126180											
SYNE2	23224	broad.mit.edu	37	chr14	64450478	64450479	+	Frame_Shift_Ins	INS	-	-	A													tgaacctgccactgatgataINSaaaaaacaggatcagcccac							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:64450477_64450478T>TA	uc001xgl.3	+	17	2254_2255	c.2024_2025T>TA	c.(2023-2025)atafs	p.I675fs	SYNE2_uc001xgm.3_Frame_Shift_Ins_p.I675fs|SYNE2_uc021ruh.1_Frame_Shift_Ins_p.I675fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	675					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		CCACTGATGATAAAAAAACAGG	0.297													A	64450479	-	A	64450478	7	5	253	1	0	1	1	0	0	0	0	0	15443	352	13	0	2091	0	SYNE2	14	64450478	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1899442	64450478	42899062	583	126181											
SYNE2	23224	broad.mit.edu	37	chr14	64688370	64688370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagaaggctcatgtcaCcgatccaaaggcagaccccc	11	14	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:64688370C>T	uc001xgm.2	+	111	20299	c.20069C>T	c.(20068-20070)ACC>ATC	p.T6690I	SYNE2_uc001xgl.2_Missense_Mutation_p.T6713I|SYNE2_uc010apy.2_Missense_Mutation_p.T3075I|SYNE2_uc001xgn.2_Missense_Mutation_p.T1652I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.T660I|SYNE2_uc001xgq.2_Missense_Mutation_p.T1069I|SYNE2_uc001xgr.2_Missense_Mutation_p.T473I|SYNE2_uc010tsi.1_Missense_Mutation_p.T347I|SYNE2_uc001xgs.2_Missense_Mutation_p.T361I|SYNE2_uc001xgt.2_Missense_Mutation_p.T235I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6690	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTCATGTCACCGATCCAAAG	0.542													T	64688370	C	T	64688370	3	4	253	1	0	0	0	0	1	0	0	0	15443	507	18	4	20622	4	SYNE2	14	64688370	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	237892	64688370	42661170	584	126182											
ESR2	2100	broad.mit.edu	37	chr14	64727249	64727249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcatcatggaggcctcGgtgaagggcgcactggggcg	17	10	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:64727249G>A	uc001xha.1	-	5	1338	c.870C>T	c.(868-870)ACC>ACT	p.T290T	ESR2_uc001xgu.2_Silent_p.T290T|ESR2_uc001xgv.2_Silent_p.T290T|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.T290T|ESR2_uc001xgy.1_Silent_p.T290T|ESR2_uc001xgz.1_Silent_p.T290T|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.T290T|ESR2_uc010aqd.1_RNA	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	290	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGGAGGCCTCGGTGAAGGGCG	0.617													A	64727249	G	A	64727249	2	1	253	1	0	0	0	0	0	0	0	1	5257	1103	39	1		1	ESR2	14	64727249	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	38879	64727249	42622291	585	126183											
RDH11	51109	broad.mit.edu	37	chr14	68157059	68157059	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccttcccaggtgatgtgcGagggaagacacatttactat	10	9	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:68157059G>A	uc001xjv.3	-	5	624	c.534C>T	c.(532-534)CTC>CTT	p.L178L	RDH11_uc001xjw.3_Silent_p.L165L|RDH11_uc001xjx.3_Intron	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	178	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GGTGATGTGCGAGGGAAGACA	0.478													A	68157059	G	A	68157059	2	1	253	1	0	0	0	0	0	0	0	1	13190	1045	37	1		1	RDH11	14	68157059	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3429810	68157059	39192481	586	126184											
DCAF5	8816	broad.mit.edu	37	chr14	69522046	69522046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtcagtgtagcctgagcGctcgctgaccccagcgtgca	13	13	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:69522046G>A	uc001xkp.2	-	9	1576	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	DCAF5_uc001xkq.2_Missense_Mutation_p.R452C	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	453						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						TAGCCTGAGCGCTCGCTGACC	0.607													A	69522046	G	A	69522046	3	1	253	1	0	0	0	0	1	0	0	0	4273	1087	38	1	1475	1	DCAF5	14	69522046	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1364987	69522046	37827494	587	126185											
EXD2	55218	broad.mit.edu	37	chr14	69704633	69704633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgcttcaagaggctgCcagcctggagaccaggtaca	14	10	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:69704633C>T	uc001xkt.2	+	10	1918	c.1259C>T	c.(1258-1260)GCC>GTC	p.A420V	EXD2_uc001xku.2_Missense_Mutation_p.A290V|EXD2_uc001xkv.2_Missense_Mutation_p.A545V|EXD2_uc001xkw.2_Missense_Mutation_p.A420V|EXD2_uc010aqt.2_Missense_Mutation_p.A545V|EXD2_uc010tte.1_Missense_Mutation_p.A545V|EXD2_uc001xky.2_Missense_Mutation_p.A420V	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	420					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CAAGAGGCTGCCAGCCTGGAG	0.527													T	69704633	C	T	69704633	3	4	253	1	0	0	0	0	1	0	0	0	5298	739	26	2	1281	2	EXD2	14	69704633	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	182587	69704633	37644907	588	126186											
GALNTL1	57452	broad.mit.edu	37	chr14	69795188	69795188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatccggtcccgagtgcGtggggcggacgtggctgcag	19	11	0	1	rs61748871	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:69795188G>A	uc010aqu.1	+	6	683	c.590G>A	c.(589-591)CGT>CAT	p.R197H	GALNTL1_uc001xla.1_Missense_Mutation_p.R197H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	197	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TCCCGAGTGCGTGGGGCGGAC	0.632													A	69795188	G	A	69795188	3	1	253	1	0	0	0	0	1	0	0	0	6221	1145	40	1	612	1	GALNTL1	14	69795188	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	90555	69795188	37554352	589	126187											
PCNX	22990	broad.mit.edu	37	chr14	71500186	71500186	+	Frame_Shift_Del	DEL	T	T	-													tattccagtacttttctccaTtttttgtggtttattagtgg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:71500186delT	uc001xmo.2	+	17	4045	c.3599delT	c.(3598-3600)ATTfs	p.I1200fs	PCNX_uc010are.1_Frame_Shift_Del_p.I1089fs|PCNX_uc010arf.1_Frame_Shift_Del_p.I60fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1200	Helical; (Potential).					integral to membrane				ovary(1)	1			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)		CTTTTCTCCATTTTTTGTGGT	0.338													-	71500186	T	-	71500186	7	5	253	1	0	1	0	1	0	0	0	0	11591	1493	52	0	3665	0	PCNX	14	71500186	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	1704998	71500186	35849354	590	126188											
PAPLN	89932	broad.mit.edu	37	chr14	73717688	73717688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgtgggggtgacggcaCgacctgctaccccgtcgcag	17	13	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:73717688C>T	uc010ttx.1	+	6	702	c.539C>T	c.(538-540)ACG>ATG	p.T180M	PAPLN_uc001xnw.3_Missense_Mutation_p.T180M|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.T180M	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	180						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGTGACGGCACGACCTGCTAC	0.642													T	73717688	C	T	73717688	3	4	253	1	0	0	0	0	1	0	0	0	11428	536	19	1	561	1	PAPLN	14	73717688	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2217502	73717688	33631852	591	126189											
C14orf43	91748	broad.mit.edu	37	chr14	74189532	74189532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaactccacgcactgggCcacggtcttggtctggatct	12	12	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:74189532C>T	uc001xot.2	-	10	3376	c.2593G>A	c.(2593-2595)GCC>ACC	p.A865T	C14orf43_uc001xos.2_Missense_Mutation_p.A130T|C14orf43_uc001xou.2_Missense_Mutation_p.A865T|C14orf43_uc010tud.1_Missense_Mutation_p.A865T|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	865	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		ACGCACTGGGCCACGGTCTTG	0.527													T	74189532	C	T	74189532	3	4	253	1	0	0	0	0	1	0	0	0	1774	739	26	2	556	2	C14orf43	14	74189532	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	471844	74189532	33160008	592	126190											
ABCD4	5826	broad.mit.edu	37	chr14	74756786	74756786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggcaggaatagcacccCatggggcccaaagtccgtca	12	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:74756786C>T	uc001xpr.2	-	13	1515	c.1363G>A	c.(1363-1365)GGG>AGG	p.G455R	ABCD4_uc001xps.2_Missense_Mutation_p.G296R|ABCD4_uc001xpt.2_Missense_Mutation_p.G296R|ABCD4_uc010tur.1_Missense_Mutation_p.G351R	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	455	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AATAGCACCCCATGGGGCCCA	0.587											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74756786	C	T	74756786	3	4	253	1	0	0	0	0	1	0	0	0	63	594	21	4	485	4	ABCD4	14	74756786	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	567254	74756786	32592754	593	126191											
NGB	58157	broad.mit.edu	37	chr14	77737252	77737252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgcccgccagctctgcCggatcagctcgggctccggg	13	17	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:77737252C>T	uc001xtg.1	-	1	404	c.29G>A	c.(28-30)CGG>CAG	p.R10Q		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	10	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCAGCTCTGCCGGATCAGCTC	0.751													T	77737252	C	T	77737252	3	4	253	1	0	0	0	0	1	0	0	0	10392	652	23	1	442	1	NGB	14	77737252	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2980466	77737252	29612288	594	126192											
TSHR	7253	broad.mit.edu	37	chr14	81610125	81610125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcctgcccatggacaccGagacccctcttgctctggca	9	17	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:81610125G>A	uc001xvd.1	+	10	1879	c.1723G>A	c.(1723-1725)GAG>AAG	p.E575K		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	575	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGGACACCGAGACCCCTCT	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						A	81610125	G	A	81610125	3	1	253	1	0	0	0	0	1	0	0	0	16619	1059	37	1	1898	1	TSHR	14	81610125	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	3872873	81610125	25739415	595	126193											
SLC24A4	123041	broad.mit.edu	37	chr14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgctggcaggtggtccGtctgacgtggtgggccgtgt	18	10	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:92909751G>A	uc001yak.2	+	7	563	c.539G>A	c.(538-540)CGT>CAT	p.R180H	SLC24A4_uc001yai.2_Missense_Mutation_p.R133H|SLC24A4_uc010twm.1_Missense_Mutation_p.R197H|SLC24A4_uc001yaj.2_Missense_Mutation_p.R180H|SLC24A4_uc010auj.2_Missense_Mutation_p.R88H|SLC24A4_uc010twn.1_5'UTR	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	197	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		CAGGTGGTCCGTCTGACGTGG	0.657													A	92909751	G	A	92909751	3	1	253	1	0	0	0	0	1	0	0	0	14468	1145	40	1	565	1	SLC24A4	14	92909751	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	11299626	92909751	14439789	596	126194											
BTBD7	55727	broad.mit.edu	37	chr14	93717896	93717896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgacaacactgtggcaCggcattattgaccatgtaga	10	9	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:93717896C>T	uc001ybo.2	-	8	2181	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	BTBD7_uc010aur.2_Missense_Mutation_p.V144M|BTBD7_uc010two.1_Missense_Mutation_p.V439M|BTBD7_uc001ybp.2_Missense_Mutation_p.V268M	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	619										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CACTGTGGCACGGCATTATTG	0.493													T	93717896	C	T	93717896	3	4	253	1	0	0	0	0	1	0	0	0	1546	536	19	1	1559	1	BTBD7	14	93717896	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	808145	93717896	13631644	597	126195											
DICER1	23405	broad.mit.edu	37	chr14	95562462	95562462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcacagggccttttcccGatcagtccttttaattaccg	9	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:95562462G>A	uc001ydw.2	-	24	4977	c.4795C>T	c.(4795-4797)CGG>TGG	p.R1599W	DICER1_uc010avh.1_Missense_Mutation_p.R497W|DICER1_uc001ydv.2_Missense_Mutation_p.R1589W|DICER1_uc001ydx.2_Missense_Mutation_p.R1599W|DICER1_uc001ydy.1_Missense_Mutation_p.R451W	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1599					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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCCTTTTCCCGATCAGTCCTT	0.537			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				A	95562462	G	A	95562462	3	1	253	1	0	0	0	0	1	0	0	0	4521	1057	37	1	993	1	DICER1	14	95562462	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1844566	95562462	11787078	598	126196											
BCL11B	64919	broad.mit.edu	37	chr14	99641154	99641154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggctgggcagcggcgcGggcttgcgcgggaagagccc	21	13	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:99641154G>A	uc001yga.2	-	4	2286	c.2019C>T	c.(2017-2019)CCC>CCT	p.P673P	BCL11B_uc001ygb.2_Silent_p.P602P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	673						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCAGCGGCGCGGGCTTGCGCG	0.547			T	TLX3	T-ALL								A	99641154	G	A	99641154	2	1	253	1	0	0	0	0	0	0	0	1	1364	1103	39	1		1	BCL11B	14	99641154	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4078692	99641154	7708386	599	126197											
EVL	51466	broad.mit.edu	37	chr14	100594927	100594928	+	Frame_Shift_Ins	INS	-	-	C													atgtagtgggcctccaccgcINScccccccacccccagtccca					rs150744633		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:100594926_100594927G>GC	uc001ygu.3	+	5	645_646	c.558_559G>GC	c.(556-561)ccgcccfs	p.P186fs	EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	184	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.688													C	100594928	-	C	100594927	7	5	253	1	0	1	1	0	0	0	0	0	5291	739	26	0	581	0	EVL	14	100594927	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	953773	100594927	6754613	600	126198											
TRAF3	7187	broad.mit.edu	37	chr14	103372037	103372038	+	Frame_Shift_Del	DEL	TG	TG	-													ccagtctttgtggcccaaacTgttctagaaaatgggacata							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:103372037_103372038delTG	uc001ymc.1	+	12	1976_1977	c.1623_1624delTG	c.(1621-1626)ACTGTTfs	p.T541fs	TRAF3_uc001yme.1_Frame_Shift_Del_p.T516fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.T541fs|TRAF3_uc010txy.1_Frame_Shift_Del_p.T458fs	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	541_542	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			ovary(1)|lung(1)|breast(1)	3		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)		TGGCCCAAACTGTTCTAGAAAA	0.465													-	103372038	TG	-	103372037	7	5	253	1	0	1	0	1	0	0	0	0	16436	1567	55	0	1661	0	TRAF3	14	103372037	Frame_Shift_Del	DEL	TG	TCGA-HJ-7597-01A-21D-2201-08	2777110	103372037	3977503	601	126199											
CDC42BPB	9578	broad.mit.edu	37	chr14	103430911	103430911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttggcccggatctccGcctccagggccgactgcagc	13	17	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:103430911G>A	uc001ymi.1	-	19	2886	c.2654C>T	c.(2653-2655)GCG>GTG	p.A885V	CDC42BPB_uc001ymj.1_Missense_Mutation_p.A13V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	885	Potential.				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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCGGATCTCCGCCTCCAGGGC	0.632													A	103430911	G	A	103430911	3	1	253	1	0	0	0	0	1	0	0	0	3073	1087	38	1	2557	1	CDC42BPB	14	103430911	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	58874	103430911	3918629	602	126200											
CRIP2	1397	broad.mit.edu	37	chr14	105945820	105945820	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgctatggaatcctcttCggacccaagggtgagtgtag	12	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr14:105945820C>T	uc001yrd.1	+	7	618	c.549C>T	c.(547-549)TTC>TTT	p.F183F	CRIP2_uc010tyr.1_Silent_p.F257F|CRIP2_uc001yre.1_Silent_p.F255F|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA	NM_001312	NP_001303	P52943	CRIP2_HUMAN	cysteine-rich protein 2	183	Gly-rich.						zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GAATCCTCTTCGGACCCAAGG	0.657													T	105945820	C	T	105945820	2	4	253	1	0	0	0	0	0	0	0	1	3875	883	31	1		1	CRIP2	14	105945820	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2514909	105945820	1403720	603	126201											
ATP10A	57194	broad.mit.edu	37	chr15	25958953	25958953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcgaaacccagtgtgtGcaggagctcgaaggtgagcc	15	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:25958953G>A	uc010ayu.2	-	10	2318	c.2212C>T	c.(2212-2214)CAC>TAC	p.H738Y		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	738	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CCCAGTGTGTGCAGGAGCTCG	0.607													A	25958953	G	A	25958953	3	1	253	1	0	0	0	0	1	0	0	0	1116	1319	46	2	2335	2	ATP10A	15	25958953	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		25958953	76572439	604	126202											
RYR3	6263	broad.mit.edu	37	chr15	33835850	33835850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggtgggcatgtagtacGtcttttccatggtcatgatg	12	7	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:33835850G>A	uc001zhi.2	+	8	744	c.674G>A	c.(673-675)CGT>CAT	p.R225H	RYR3_uc010bar.2_Missense_Mutation_p.R225H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	225	MIR 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CATGTAGTACGTCTTTTCCAT	0.393													A	33835850	G	A	33835850	3	1	253	1	0	0	0	0	1	0	0	0	13770	1145	40	1	704	1	RYR3	15	33835850	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7876897	33835850	68695542	605	126203											
CHRM5	1133	broad.mit.edu	37	chr15	34355212	34355212	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatgggacgctgggctctCgggagtctggcttgtgacct	15	11	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:34355212C>T	uc001zhk.1	+	3	964	c.294C>T	c.(292-294)CTC>CTT	p.L98L	CHRM5_uc001zhl.1_Silent_p.L98L	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	98	Extracellular (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GCTGGGCTCTCGGGAGTCTGG	0.502													T	34355212	C	T	34355212	2	4	253	1	0	0	0	0	0	0	0	1	3380	871	31	1		1	CHRM5	15	34355212	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	519362	34355212	68176180	606	126204											
AQR	9716	broad.mit.edu	37	chr15	35166929	35166929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagtcggaactccaacgCgaacaaagcgagtgaagaga	11	10	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:35166929C>T	uc001ziv.2	-	29	3555	c.3374G>A	c.(3373-3375)CGC>CAC	p.R1125H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1125						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		AACTCCAACGCGAACAAAGCG	0.428													T	35166929	C	T	35166929	3	4	253	1	0	0	0	0	1	0	0	0	835	768	27	1	1111	1	AQR	15	35166929	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	811717	35166929	67364463	607	126205											
BAHD1	22893	broad.mit.edu	37	chr15	40750958	40750958	+	Frame_Shift_Del	DEL	C	C	-													taccgcctgacctgcccaagCcccccagcccggccccatcc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:40750958delC	uc001zlu.2	+	2	366	c.295delC	c.(295-297)CCCfs	p.P99fs	BAHD1_uc001zlt.2_Frame_Shift_Del_p.P99fs|BAHD1_uc010bbp.1_Frame_Shift_Del_p.P99fs|BAHD1_uc001zlv.2_Frame_Shift_Del_p.P99fs	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	99					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTGCCCAAGCCCCCCAGCCC	0.652													-	40750958	C	-	40750958	7	5	253	1	0	1	0	1	0	0	0	0	1297	739	26	0	297	0	BAHD1	15	40750958	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	5584029	40750958	61780434	608	126206											
CASC5	57082	broad.mit.edu	37	chr15	40915354	40915354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catactgttttcattgactaCcaagaaaaggaaagaacaga	7	7	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:40915354C>T	uc010bbs.1	+	11	3131	c.2970C>T	c.(2968-2970)TAC>TAT	p.Y990Y	CASC5_uc010ucq.1_Silent_p.Y814Y|CASC5_uc001zme.2_Silent_p.Y964Y|CASC5_uc010bbt.1_Silent_p.Y964Y	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	990	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			breast(3)|central_nervous_system(1)|skin(1)	5		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)		TCATTGACTACCAAGAAAAGG	0.383													T	40915354	C	T	40915354	2	4	253	1	0	0	0	0	0	0	0	1	2663	518	18	4		4	CASC5	15	40915354	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	164396	40915354	61616038	609	126207											
MGA	23269	broad.mit.edu	37	chr15	42034971	42034971	+	Frame_Shift_Del	DEL	T	T	-													ctactaccacccctcaagtgTttttagaaaatactactgct							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:42034970_42034970GT>G	uc010ucy.2	+	14	4993	c.4812_4812GT>G	c.(4810-4812)gtgfs	p.V1604fs	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Frame_Shift_Del_p.V220fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1604	Thr-rich.					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)		CCCCTCAAGTGTTTTTAGAAA	0.473													-	42034971	T	-	42034971	7	5	253	1	0	1	0	1	0	0	0	0	9540	1725	60	0	4867	0	MGA	15	42034971	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	1119617	42034971	60496421	610	126208											
VPS39	23339	broad.mit.edu	37	chr15	42476844	42476844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagaggtgcaactaaggGctccagctgttttcctgttg	12	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:42476844G>A	uc001zpd.2	-	9	773	c.622C>T	c.(622-624)CCC>TCC	p.P208S	VPS39_uc001zpc.2_Missense_Mutation_p.P197S	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	208	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	p.A208T(1)		ovary(1)|pancreas(1)|skin(1)	3		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)		GCAACTAAGGGCTCCAGCTGT	0.517													A	42476844	G	A	42476844	3	1	253	1	0	0	0	0	1	0	0	0	17206	1203	42	2	2110	2	VPS39	15	42476844	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	441873	42476844	60054548	611	126209											
TGM7	116179	broad.mit.edu	37	chr15	43568714	43568714	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatctccttgacctcgTtgctgctgatgagaacctgg	10	11	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:43568714T>C	uc001zrf.1	-	13	2077	c.2072A>G	c.(2071-2073)AAC>AGC	p.N691S		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	691					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTTGACCTCGTTGCTGCTGAT	0.622													C	43568714	T	C	43568714	3	2	253	1	0	0	0	0	1	0	0	0	15832	1725	60	3	64	3	TGM7	15	43568714	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1091870	43568714	58962678	612	126210											
MYO5C	55930	broad.mit.edu	37	chr15	52553183	52553183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggccagtgcatccctggCgttgacagcctgaggcctgg	14	12	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:52553183C>T	uc010bff.2	-	10	1326	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_3'UTR	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	397	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GCATCCCTGGCGTTGACAGCC	0.512													T	52553183	C	T	52553183	3	4	253	1	0	0	0	0	1	0	0	0	10080	768	27	1	4167	1	MYO5C	15	52553183	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8984469	52553183	49978209	613	126211											
NARG2	79664	broad.mit.edu	37	chr15	60741590	60741590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagtcatatcatttttatTagaagtttcaatttcctgag	5	5	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:60741590T>C	uc002agp.2	-	10	1811	c.1576A>G	c.(1576-1578)AAT>GAT	p.N526D	NARG2_uc002ago.2_Missense_Mutation_p.N389D|NARG2_uc002agq.3_Missense_Mutation_p.N194D	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	526						nucleus				ovary(1)|lung(1)	2						TCATTTTTATTAGAAGTTTCA	0.323													C	60741590	T	C	60741590	3	2	253	1	0	0	0	0	1	0	0	0	10169	1754	61	3	1400	3	NARG2	15	60741590	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	8188407	60741590	41789802	614	126212											
VPS13C	54832	broad.mit.edu	37	chr15	62165447	62165447	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagcaaagaacttactcGcagaaagccctttcctcctc	5	14	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:62165447G>A	uc002agz.2	-	78	10650	c.10576C>T	c.(10576-10578)CGA>TGA	p.R3526*	VPS13C_uc002aha.2_Nonsense_Mutation_p.R3483*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.R3526*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.R3483*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3526					protein localization					ovary(2)	2						GAACTTACTCGCAGAAAGCCC	0.413													A	62165447	G	A	62165447	4	1	253	1	0	0	0	0	0	1	0	0	17188	1095	38	1	745	1	VPS13C	15	62165447	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1423857	62165447	40365945	615	126213											
HERC1	8925	broad.mit.edu	37	chr15	63944642	63944642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacacacaggtctgttgcagTgaatattgcttcttggtaac	9	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:63944642T>C	uc002amp.2	-	52	10537	c.10389A>G	c.(10387-10389)TCA>TCG	p.S3463S		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3463	WD 4.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCTGTTGCAGTGAATATTGCT	0.393													C	63944642	T	C	63944642	2	2	253	1	0	0	0	0	0	0	0	1	7057	1683	59	3		3	HERC1	15	63944642	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1779195	63944642	38586750	616	126214											
ZNF609	23060	broad.mit.edu	37	chr15	64967943	64967943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctcggtcatccagcagCgtcccaatatgtacatgcag	9	14	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:64967943C>T	uc002ann.2	+	4	2890	c.2890C>T	c.(2890-2892)CGT>TGT	p.R964C		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	964						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CATCCAGCAGCGTCCCAATAT	0.522													T	64967943	C	T	64967943	3	4	253	1	0	0	0	0	1	0	0	0	18032	768	27	1	2904	1	ZNF609	15	64967943	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1023301	64967943	37563449	617	126215											
IGDCC4	57722	broad.mit.edu	37	chr15	65684597	65684597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcagcccccacctccCgccaatatagtttgtagcca	5	19	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:65684597C>T	uc002aou.1	-	11	2207	c.1997G>A	c.(1996-1998)CGG>CAG	p.R666Q	IGDCC4_uc002aot.1_Missense_Mutation_p.R254Q	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	666	Extracellular (Potential).|Fibronectin type-III 3.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CCCCACCTCCCGCCAATATAG	0.622													T	65684597	C	T	65684597	3	4	253	1	0	0	0	0	1	0	0	0	7569	652	23	1	1795	1	IGDCC4	15	65684597	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	716654	65684597	36846795	618	126216											
MAP2K5	5607	broad.mit.edu	37	chr15	67938762	67938762	+	Frame_Shift_Del	DEL	T	T	-													tcattggattttatggagcaTtttttgtagaaaacaggatt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:67938762delT	uc002aqu.2	+	11	1344	c.691delT	c.(691-693)TTTfs	p.F231fs	MAP2K5_uc002aqt.1_Frame_Shift_Del_p.F231fs|MAP2K5_uc002aqv.2_Frame_Shift_Del_p.F231fs|MAP2K5_uc002aqw.2_Frame_Shift_Del_p.F71fs|MAP2K5_uc002aqx.2_Frame_Shift_Del_p.F41fs	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	231	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2						TTATGGAGCATTTTTTGTAGA	0.294													-	67938762	T	-	67938762	7	5	253	1	0	1	0	1	0	0	0	0	9240	1493	52	0	733	0	MAP2K5	15	67938762	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	2254165	67938762	34592630	619	126217											
TMEM202	338949	broad.mit.edu	37	chr15	72691047	72691047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgtcatgccaaaggcaGcagcagcttatggatcaggc	12	10	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:72691047G>A	uc002auq.2	+	2	135	c.135G>A	c.(133-135)CAG>CAA	p.Q45Q	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	45						integral to membrane				central_nervous_system(1)|skin(1)	2						GCCAAAGGCAGCAGCAGCTTA	0.512													A	72691047	G	A	72691047	2	1	253	1	0	0	0	0	0	0	0	1	16124	962	34	2		2	TMEM202	15	72691047	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4752285	72691047	29840345	620	126218											
STRA6	64220	broad.mit.edu	37	chr15	74481567	74481567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatccgtggtgacccctgCcctcaccttctggatagtgg	11	14	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:74481567C>T	uc002axk.2	-	12	1161	c.979G>A	c.(979-981)GCA>ACA	p.A327T	STRA6_uc002axi.2_Missense_Mutation_p.A136T|STRA6_uc010ulh.1_Missense_Mutation_p.A365T|STRA6_uc002axj.2_Missense_Mutation_p.A366T|STRA6_uc010bji.2_Missense_Mutation_p.A327T|STRA6_uc002axl.2_Missense_Mutation_p.A259T|STRA6_uc002axm.2_Missense_Mutation_p.A327T|STRA6_uc002axn.2_Missense_Mutation_p.A318T|STRA6_uc010uli.1_Missense_Mutation_p.A364T|STRA6_uc010bjj.1_RNA	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	327	Helical; (Potential).				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			central_nervous_system(1)	1						GTGACCCCTGCCCTCACCTTC	0.617													T	74481567	C	T	74481567	3	4	253	1	0	0	0	0	1	0	0	0	15321	739	26	2	1056	2	STRA6	15	74481567	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1790520	74481567	28049825	621	126219											
CYP11A1	1583	broad.mit.edu	37	chr15	74636145	74636145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctttactgaaaatcaCgtcccatgcagccacatggt	6	14	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:74636145C>T	uc002axt.2	-	4	969	c.814G>A	c.(814-816)GTG>ATG	p.V272M	CYP11A1_uc002axs.2_Missense_Mutation_p.V114M|CYP11A1_uc010bjm.1_Missense_Mutation_p.V114M|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.V272M|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.V52M	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	272					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			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGAAAATCACGTCCCATGCA	0.592													T	74636145	C	T	74636145	3	4	253	1	0	0	0	0	1	0	0	0	4144	536	19	1	775	1	CYP11A1	15	74636145	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	154578	74636145	27895247	622	126220											
CYP1A1	1543	broad.mit.edu	37	chr15	75014057	75014057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgatgtcccggatgtggCccttaggtagggaaagtcca	14	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:75014057C>T	uc002ayp.3	-	3	949	c.827G>A	c.(826-828)GGC>GAC	p.G276D	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.G12D|CYP1A1_uc010bjx.2_Missense_Mutation_p.G12D|CYP1A1_uc002ayq.3_Missense_Mutation_p.G276D|CYP1A1_uc010bjy.2_Missense_Mutation_p.G276D|CYP1A1_uc010bjz.1_Missense_Mutation_p.G12D	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	276					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			ovary(2)|breast(2)|pancreas(1)	5					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)	CCGGATGTGGCCCTTAGGTAG	0.507									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				T	75014057	C	T	75014057	3	4	253	1	0	0	0	0	1	0	0	0	4149	753	26	2	731	2	CYP1A1	15	75014057	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	377912	75014057	27517335	623	126221											
CSK	1445	broad.mit.edu	37	chr15	75094810	75094810	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctccttcctacagctcCgagagcagcttgagcacatc	9	16	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:75094810C>T	uc010bkb.1	+	14	1492	c.1309C>T	c.(1309-1311)CGA>TGA	p.R437*	CSK_uc002ays.2_Nonsense_Mutation_p.R437*|CSK_uc010bkc.1_Nonsense_Mutation_p.R246*	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	437	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			lung(2)|central_nervous_system(1)	3						CCTACAGCTCCGAGAGCAGCT	0.627													T	75094810	C	T	75094810	4	4	253	1	0	0	0	0	0	1	0	0	3943	644	23	1	1355	1	CSK	15	75094810	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	80753	75094810	27436582	624	126222											
ADAMTS7	11173	broad.mit.edu	37	chr15	79083560	79083560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtcatgaaacaggccAgccacctgcccaagagatgg	13	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:79083560A>G	uc002bej.3	-	5	1036	c.825T>C	c.(823-825)GCT>GCC	p.A275A	ADAMTS7_uc010und.1_Silent_p.A275A|ADAMTS7_uc002bek.1_Silent_p.A275A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	275	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GAAACAGGCCAGCCACCTGCC	0.602													G	79083560	A	G	79083560	2	3	253	1	0	0	0	0	0	0	0	1	271	175	7	3		3	ADAMTS7	15	79083560	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	3988750	79083560	23447832	625	126223											
KIAA1024	23251	broad.mit.edu	37	chr15	79749949	79749949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctggagcccaagaaatGcagagacctgtgcacctctg	12	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:79749949G>A	uc002bew.1	+	2	1535	c.1460G>A	c.(1459-1461)TGC>TAC	p.C487Y	KIAA1024_uc010unk.1_Missense_Mutation_p.C487Y	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	487						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CCCAAGAAATGCAGAGACCTG	0.532													A	79749949	G	A	79749949	3	1	253	1	0	0	0	0	1	0	0	0	8205	1319	46	2	1462	2	KIAA1024	15	79749949	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	666389	79749949	22781443	626	126224											
ARNT2	9915	broad.mit.edu	37	chr15	80800575	80800575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgtgcatgggctcgcGgcggtctttcatctgcagga	16	9	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:80800575G>A	uc002bfr.2	+	6	867	c.701G>A	c.(700-702)CGG>CAG	p.R234Q	ARNT2_uc010unm.1_Missense_Mutation_p.R223Q|ARNT2_uc002bfs.2_Missense_Mutation_p.R223Q	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	234					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			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGGCTCGCGGCGGTCTTTC	0.542													A	80800575	G	A	80800575	3	1	253	1	0	0	0	0	1	0	0	0	966	1116	39	1	723	1	ARNT2	15	80800575	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1050626	80800575	21730817	627	126225											
AP3B2	8120	broad.mit.edu	37	chr15	83332368	83332368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagcacttttgctgctgGgaggctgaaagagaaaaatg	14	6	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:83332368G>A	uc010uoh.1	-	20	2561	c.2384C>T	c.(2383-2385)CCC>CTC	p.P795L	AP3B2_uc010uoi.1_Missense_Mutation_p.P814L|AP3B2_uc010uoj.1_Missense_Mutation_p.P763L|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.P431L|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	795	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTTGCTGCTGGGAGGCTGAAA	0.522													A	83332368	G	A	83332368	3	1	253	1	0	0	0	0	1	0	0	0	745	1232	43	4	892	4	AP3B2	15	83332368	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2531793	83332368	19199024	628	126226											
WHAMM	123720	broad.mit.edu	37	chr15	83478511	83478511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgacagcctggagggCtgggtgccggtccgggaggg	20	11	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:83478511C>T	uc002bje.2	+	1	539	c.33C>T	c.(31-33)GGC>GGT	p.G11G		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	11						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						GCCTGGAGGGCTGGGTGCCGG	0.731													T	83478511	C	T	83478511	2	4	253	1	0	0	0	0	0	0	0	1	17358	784	28	2		2	WHAMM	15	83478511	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	146143	83478511	19052881	629	126227											
ZSCAN2	54993	broad.mit.edu	37	chr15	85147391	85147391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccacagggtgcactcgGccgcctccgagagctctgcc	14	16	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:85147391G>A	uc002bkr.2	+	2	459	c.233G>A	c.(232-234)GGC>GAC	p.G78D	ZSCAN2_uc002bkp.2_Missense_Mutation_p.G78D|ZSCAN2_uc002bkq.2_Missense_Mutation_p.G78D|ZSCAN2_uc010bmz.1_Missense_Mutation_p.G77D|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.G77D|ZSCAN2_uc010uoy.1_Missense_Mutation_p.G77D|ZSCAN2_uc010uoz.1_Missense_Mutation_p.G77D	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	78	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GGTGCACTCGGCCGCCTCCGA	0.632													A	85147391	G	A	85147391	3	1	253	1	0	0	0	0	1	0	0	0	18228	1203	42	2	235	2	ZSCAN2	15	85147391	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1668880	85147391	17384001	630	126228											
HAPLN3	145864	broad.mit.edu	37	chr15	89422314	89422314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggctgccggggcaacAtgatggggtactgcaccgtg	17	11	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:89422314A>G	uc002bnc.2	-	4	808	c.680T>C	c.(679-681)ATG>ACG	p.M227T	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.M289T	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	227	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCGGGGCAACATGATGGGGTA	0.692											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	89422314	A	G	89422314	3	3	253	1	0	0	0	0	1	0	0	0	6956	217	8	3	410	3	HAPLN3	15	89422314	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	4274923	89422314	13109078	631	126229											
RHCG	51458	broad.mit.edu	37	chr15	90023598	90023598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgagcccaaagtaggcGccaaatgtgtggatggtcat	13	8	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:90023598G>A	uc002bnz.2	-	4	588	c.564C>T	c.(562-564)GGC>GGT	p.G188G	RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Silent_p.G72G	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	188	Helical; (Potential).				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			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CAAAGTAGGCGCCAAATGTGT	0.577													A	90023598	G	A	90023598	2	1	253	1	0	0	0	0	0	0	0	1	13326	1074	38	1		1	RHCG	15	90023598	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	601284	90023598	12507794	632	126230											
IQGAP1	8826	broad.mit.edu	37	chr15	91027453	91027453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgtgcttatttcagaCggtttttccaaactgcttgt	7	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:91027453C>T	uc002bpl.1	+	30	3891	c.3790C>T	c.(3790-3792)CGG>TGG	p.R1264W		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1264	C1.				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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			TTATTTCAGACGGTTTTTCCA	0.428													T	91027453	C	T	91027453	3	4	253	1	0	0	0	0	1	0	0	0	7814	550	19	1	3908	1	IQGAP1	15	91027453	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1003855	91027453	11503939	633	126231											
MAN2A2	4122	broad.mit.edu	37	chr15	91462927	91462927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagccaacctccttgacGttactgtaccctctggcctc	6	17	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:91462927G>A	uc010bnz.2	+	23	3478	c.3363G>A	c.(3361-3363)ACG>ACA	p.T1121T	MAN2A2_uc002bqc.2_Silent_p.T1121T|MAN2A2_uc010uql.1_Silent_p.T783T|MAN2A2_uc010uqm.1_Silent_p.T700T|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1121					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			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTCCTTGACGTTACTGTACC	0.567													A	91462927	G	A	91462927	2	1	253	1	0	0	0	0	0	0	0	1	9215	1132	40	1		1	MAN2A2	15	91462927	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	435474	91462927	11068465	634	126232											
CHD2	1106	broad.mit.edu	37	chr15	93489371	93489371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaagccctcattggAaagaaattccagaattgcat	9	7	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:93489371A>G	uc002bsp.2	+	12	1877	c.1302A>G	c.(1300-1302)GGA>GGG	p.G434G	CHD2_uc002bsn.2_Silent_p.G434G|CHD2_uc002bso.1_Silent_p.G434G|CHD2_uc010urb.1_Silent_p.G447G|CHD2_uc010bof.1_RNA	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	434	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCTCATTGGAAAGAAATTCC	0.448													G	93489371	A	G	93489371	2	3	253	1	0	0	0	0	0	0	0	1	3325	233	9	3		3	CHD2	15	93489371	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	2026444	93489371	9042021	635	126233											
NR2F2	7026	broad.mit.edu	37	chr15	96877812	96877812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtacagctgcctcaaggCcatagtcctgttcacctcag	9	14	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr15:96877812C>T	uc010uri.1	+	2	2174	c.950C>T	c.(949-951)GCC>GTC	p.A317V	NR2F2_uc002btp.2_Missense_Mutation_p.A184V|NR2F2_uc010urj.1_Missense_Mutation_p.A164V|NR2F2_uc010urk.1_Missense_Mutation_p.A164V	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	317	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			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGCCTCAAGGCCATAGTCCTG	0.602													T	96877812	C	T	96877812	3	4	253	1	0	0	0	0	1	0	0	0	10628	739	26	2	1003	2	NR2F2	15	96877812	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3388441	96877812	5653580	636	126234											
TMEM8A	58986	broad.mit.edu	37	chr16	424092	424092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagtcgcagtactgcagCgtgtcgtagctgaggatgca	14	8	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:424092C>T	uc002cgu.3	-	11	1944	c.1815G>A	c.(1813-1815)ACG>ACA	p.T605T	TMEM8A_uc002cgv.3_Silent_p.T412T	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	605	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						AGTACTGCAGCGTGTCGTAGC	0.652											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	424092	C	T	424092	2	4	253	1	0	0	0	0	0	0	0	1	16211	755	27	1		1	TMEM8A	16	424092	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08		424092	89930661	637	126235											
C16orf11	146325	broad.mit.edu	37	chr16	615240	615240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggggcacctgtgttgCgacgaggagttcccagaccc	15	12	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:615240C>T	uc002chk.2	+	3	1928	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	550										central_nervous_system(1)	1						ACCTGTGTTGCGACGAGGAGT	0.672													T	615240	C	T	615240	3	4	253	1	0	0	0	0	1	0	0	0	1810	768	27	1	1655	1	C16orf11	16	615240	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	191148	615240	89739513	638	126236											
RAB40C	57799	broad.mit.edu	37	chr16	668205	668205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtatgtttcagggacaCgtcgggccagggccggttct	14	13	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:668205C>T	uc002chr.2	+	3	325	c.209C>T	c.(208-210)ACG>ATG	p.T70M	RAB40C_uc002chq.2_Missense_Mutation_p.T70M	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	70	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				TTCAGGGACACGTCGGGCCAG	0.612													T	668205	C	T	668205	3	4	253	1	0	0	0	0	1	0	0	0	12942	536	19	1	219	1	RAB40C	16	668205	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	52965	668205	89686548	639	126237											
NARFL	64428	broad.mit.edu	37	chr16	784277	784277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagcccatgacctgctgCggggaccgggcggtgctgat	18	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:784277C>T	uc002cjr.2	-	6	657	c.645G>A	c.(643-645)CCG>CCA	p.P215P	NARFL_uc002cjp.2_Silent_p.P113P|NARFL_uc002cjq.2_Silent_p.P113P|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_3'UTR|NARFL_uc010uur.1_Missense_Mutation_p.R171H|NARFL_uc010uuq.1_5'Flank	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	215					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				TGACCTGCTGCGGGGACCGGG	0.662													T	784277	C	T	784277	2	4	253	1	0	0	0	0	0	0	0	1	10168	755	27	1		1	NARFL	16	784277	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	116072	784277	89570476	640	126238											
PRR25	388199	broad.mit.edu	37	chr16	857626	857626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggatggcaaagggacccGccagcggatccctcttacag	15	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:857626G>A	uc010uut.1	+	2	623	c.623G>A	c.(622-624)CGC>CAC	p.R208H		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	208										large_intestine(1)	1						AAAGGGACCCGCCAGCGGATC	0.711													A	857626	G	A	857626	3	1	253	1	0	0	0	0	1	0	0	0	12597	1087	38	1	629	1	PRR25	16	857626	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	73349	857626	89497127	641	126239											
CACNA1H	8912	broad.mit.edu	37	chr16	1262003	1262003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctccttcctgctcatcGtcagcttcttcgtgctcaac	5	16	6	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:1262003G>A	uc002cks.2	+	25	4872	c.4624G>A	c.(4624-4626)GTC>ATC	p.V1542I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V1542I|CACNA1H_uc002cku.2_Missense_Mutation_p.V248I|CACNA1H_uc010brj.2_Missense_Mutation_p.V248I|CACNA1H_uc002ckv.2_Missense_Mutation_p.V248I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1542	Helical; Name=S6 of repeat III; (Potential).|III.				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTGCTCATCGTCAGCTTCTT	0.647													A	1262003	G	A	1262003	3	1	253	1	0	0	0	0	1	0	0	0	2545	1145	40	1	4718	1	CACNA1H	16	1262003	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	404377	1262003	89092750	642	126240											
PTX4	390667	broad.mit.edu	37	chr16	1537330	1537330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacttactctctcctggcacCtggggggaccatgcctgctg	11	14	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:1537330C>A	uc010uvf.1	-	2	768	c.768G>T	c.(766-768)CAG>CAT	p.Q256H		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	261						extracellular region	metal ion binding				0						CTCCTGGCACCTGGGGGGACC	0.607													A	1537330	C	A	1537330	3	1	253	1	0	0	0	0	1	0	0	0	12823	680	24	5	660	5	PTX4	16	1537330	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	275327	1537330	88817423	643	126241											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1810417	1810417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagaatgacctgattgcCaaggtcgaccagctgtccgg	13	10	0	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:1810417C>A	uc002cmk.2	+	12	1458	c.1338C>A	c.(1336-1338)GCC>GCA	p.A446A	MAPK8IP3_uc002cml.2_Silent_p.A440A|MAPK8IP3_uc010uvl.1_Silent_p.A447A	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	446	Potential.				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						ACCTGATTGCCAAGGTCGACC	0.562													A	1810417	C	A	1810417	2	1	253	1	0	0	0	0	0	0	0	1	9286	581	21	5		5	MAPK8IP3	16	1810417	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	273087	1810417	88544336	644	126242											
ZNF598	90850	broad.mit.edu	37	chr16	2049537	2049537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcaggggccgccgagCgctgggaagtcctcctgtgg	20	11	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:2049537C>T	uc002cof.1	-	11	2028	c.2013G>A	c.(2011-2013)GCG>GCA	p.A671A	ZNF598_uc002coe.1_Silent_p.A35A	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	671	Pro-rich.					intracellular	zinc ion binding			lung(1)|breast(1)	2						GGCCGCCGAGCGCTGGGAAGT	0.761													T	2049537	C	T	2049537	2	4	253	1	0	0	0	0	0	0	0	1	18025	755	27	1		1	ZNF598	16	2049537	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	239120	2049537	88305216	645	126243											
CREBBP	1387	broad.mit.edu	37	chr16	3843416	3843416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcccagcctgacaatgcGtcatgtgattcaaaacgttt	7	11	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:3843416G>A	uc002cvv.2	-	4	1391	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	CREBBP_uc002cvw.2_Missense_Mutation_p.T396M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	396	TAZ-type 1.|Interaction with SRCAP.				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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGACAATGCGTCATGTGATT	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3843416	G	A	3843416	3	1	253	1	0	0	0	0	1	0	0	0	3861	1145	40	1	6253	1	CREBBP	16	3843416	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1793879	3843416	86511337	646	126244											
HMOX2	3163	broad.mit.edu	37	chr16	4559660	4559660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcagcagctgtcccttccGaacagctatggctgtgctga	13	12	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:4559660G>A	uc010bts.2	+	6	1025	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	HMOX2_uc002cwr.3_Missense_Mutation_p.R285Q|HMOX2_uc002cwq.3_Missense_Mutation_p.R285Q|HMOX2_uc002cws.3_Missense_Mutation_p.R339Q|HMOX2_uc010btt.2_Missense_Mutation_p.R285Q|HMOX2_uc002cwt.2_Missense_Mutation_p.R285Q	NM_001127206	NP_001120678	P30519	HMOX2_HUMAN	heme oxygenase (decyclizing) 2	285	HRM 2.			SCPFRTAM -> LSLPTSY (in Ref. 2; AAB22110).	cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding				0					NADH(DB00157)	TGTCCCTTCCGAACAGCTATG	0.612													A	4559660	G	A	4559660	3	1	253	1	0	0	0	0	1	0	0	0	7244	1058	37	1	872	1	HMOX2	16	4559660	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	716244	4559660	85795093	647	126245											
GRIN2A	2903	broad.mit.edu	37	chr16	9858738	9858738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgttgctctgggatcccGtcagattgaagtctggagac	12	9	3	3	rs149698593		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:9858738G>A	uc002czo.3	-	13	3211	c.2663C>T	c.(2662-2664)ACG>ATG	p.T888M	GRIN2A_uc010uym.1_Missense_Mutation_p.T888M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T731M|GRIN2A_uc002czr.3_Missense_Mutation_p.T888M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	888	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGGATCCCGTCAGATTGAA	0.468													A	9858738	G	A	9858738	3	1	253	1	0	0	0	0	1	0	0	0	6779	1145	40	1	1735	1	GRIN2A	16	9858738	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5299078	9858738	80496015	648	126246											
RUNDC2A	84127	broad.mit.edu	37	chr16	12145844	12145844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagctcagaggacaactccGaccgctcctctgtcaatatc	8	14	3	2	rs149490127		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:12145844G>A	uc002dbw.1	+	8	951	c.889G>A	c.(889-891)GAC>AAC	p.D297N	SNX29_uc002dby.3_5'Flank	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	297										ovary(1)	1						GGACAACTCCGACCGCTCCTC	0.498			T	CIITA	PMBL|Hodgkin Lymphona|								A	12145844	G	A	12145844	3	1	253	1	0	0	0	0	1	0	0	0	13743	1058	37	1	919	1	RUNDC2A	16	12145844	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2287106	12145844	78208909	649	126247											
SNX29	92017	broad.mit.edu	37	chr16	12662399	12662399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagcctgtgaacagccgGcccaaagcagcttcccgctt	12	14	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:12662399G>A	uc002dby.3	+	14	1256	c.1200G>A	c.(1198-1200)CGG>CGA	p.R400R		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	400					cell communication		phosphatidylinositol binding			ovary(1)	1						TGAACAGCCGGCCCAAAGCAG	0.622													A	12662399	G	A	12662399	2	1	253	1	0	0	0	0	0	0	0	1	14898	1190	42	2		2	SNX29	16	12662399	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	516555	12662399	77692354	650	126248											
BFAR	51283	broad.mit.edu	37	chr16	14749041	14749042	+	Frame_Shift_Ins	INS	-	-	C													caaagcattaggcgtgaagcINSccccccagaatctctgggaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:14749040_14749041G>GC	uc002dco.3	+	4	1037_1038	c.756_757G>GC	c.(754-759)aagcccfs	p.K252fs	BFAR_uc010uzh.2_Frame_Shift_Ins_p.K124fs	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	252					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	p.Q255fs*7(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TAGGCGTGAAGCCCCCCCAGAA	0.361													C	14749042	-	C	14749041	7	5	253	1	0	1	1	0	0	0	0	0	1414	739	26	0	771	0	BFAR	16	14749041	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	2086642	14749041	75605712	651	126249											
DNAH3	55567	broad.mit.edu	37	chr16	20994156	20994156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtacagcaattgatcagCgaagggaacatccgcaggcg	12	10	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:20994156C>T	uc010vbe.1	-	49	7746	c.7746G>A	c.(7744-7746)TCG>TCA	p.S2582S	DNAH3_uc010vbd.1_Silent_p.S17S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2582	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AATTGATCAGCGAAGGGAACA	0.483													T	20994156	C	T	20994156	2	4	253	1	0	0	0	0	0	0	0	1	4603	755	27	1		1	DNAH3	16	20994156	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	6245115	20994156	69360597	652	126250											
OTOA	146183	broad.mit.edu	37	chr16	21698928	21698928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagccagacatcacagaGcggctccctcgggacctgcg	11	17	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:21698928G>A	uc002djh.2	+	7	595	c.594G>A	c.(592-594)GAG>GAA	p.E198E	uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.E119E	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	198					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		ACATCACAGAGCGGCTCCCTC	0.473													A	21698928	G	A	21698928	2	1	253	1	0	0	0	0	0	0	0	1	11302	962	34	2		2	OTOA	16	21698928	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	704772	21698928	68655825	653	126251											
USP31	57478	broad.mit.edu	37	chr16	23080178	23080178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgaatgccgtccactgCccctggaagaagaatctgct	12	11	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:23080178C>T	uc002dll.2	-	16	3248	c.3248G>A	c.(3247-3249)GGC>GAC	p.G1083D	USP31_uc002dlk.2_Missense_Mutation_p.G355D|USP31_uc010vca.1_Missense_Mutation_p.G386D|USP31_uc010bxm.2_Missense_Mutation_p.G371D	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1083	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CCGTCCACTGCCCCTGGAAGA	0.542													T	23080178	C	T	23080178	3	4	253	1	0	0	0	0	1	0	0	0	17059	739	26	2	814	2	USP31	16	23080178	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1381250	23080178	67274575	654	126252											
TNRC6A	27327	broad.mit.edu	37	chr16	24806025	24806025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattggccaccatatacaaaGaaaatgtcatcgaaggtaaa	7	7	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:24806025G>T	uc002dmm.2	+	8	3627	c.3513G>T	c.(3511-3513)AAG>AAT	p.K1171N	TNRC6A_uc010bxs.2_Missense_Mutation_p.K918N|TNRC6A_uc010vcc.1_Missense_Mutation_p.K918N|TNRC6A_uc002dmn.2_Missense_Mutation_p.K918N|TNRC6A_uc002dmo.2_Missense_Mutation_p.K859N	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1171	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CATATACAAAGAAAATGTCAT	0.393													T	24806025	G	T	24806025	3	4	253	1	0	0	0	0	1	0	0	0	16337	933	33	5	3543	5	TNRC6A	16	24806025	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1725847	24806025	65548728	655	126253											
AQP8	343	broad.mit.edu	37	chr16	25228757	25228757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtgattgccacgctggGgaatatcaggtgagaccagc	14	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:25228757G>A	uc002doc.2	+	2	333	c.251G>A	c.(250-252)GGG>GAG	p.G84E		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	84	Extracellular (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		GCCACGCTGGGGAATATCAGG	0.617													A	25228757	G	A	25228757	3	1	253	1	0	0	0	0	1	0	0	0	832	1232	43	4	257	4	AQP8	16	25228757	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	422732	25228757	65125996	656	126254											
GTF3C1	2975	broad.mit.edu	37	chr16	27473769	27473769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtggccatccacgacaCgccacggccggccgatgaag	13	15	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:27473769C>T	uc002dov.1	-	36	6003	c.5963G>A	c.(5962-5964)CGT>CAT	p.R1988H	GTF3C1_uc002dou.2_Missense_Mutation_p.R1963H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1988						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						ATCCACGACACGCCACGGCCG	0.622													T	27473769	C	T	27473769	3	4	253	1	0	0	0	0	1	0	0	0	6872	536	19	1	374	1	GTF3C1	16	27473769	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2245012	27473769	62880984	657	126255											
MAZ	4150	broad.mit.edu	37	chr16	29819074	29819074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgcaaggaccgcatgaGctaccacgtgcgctcacatg	11	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:29819074G>A	uc002dty.2	+	2	1136	c.968G>A	c.(967-969)AGC>AAC	p.S323N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.S300N|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.S323N|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Missense_Mutation_p.S41N|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	323	C2H2-type 3.				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			ovary(1)	1						GACCGCATGAGCTACCACGTG	0.647													A	29819074	G	A	29819074	3	1	253	1	0	0	0	0	1	0	0	0	9340	971	34	2	974	2	MAZ	16	29819074	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2345305	29819074	60535679	658	126256											
MVP	9961	broad.mit.edu	37	chr16	29853161	29853161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgagagaagcgagcccGgtgagtgctggcagcgcagg	17	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:29853161G>T	uc002dui.2	+	9	1520	c.1436G>T	c.(1435-1437)CGC>CTC	p.R479L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.R479L|MVP_uc010vea.1_Missense_Mutation_p.R73L	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	479	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AAGCGAGCCCGGTGAGTGCTG	0.667													T	29853161	G	T	29853161	3	4	253	1	0	0	0	0	1	0	0	0	9996	1130	39	5	1466	5	MVP	16	29853161	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	34087	29853161	60501592	659	126257											
TAOK2	9344	broad.mit.edu	37	chr16	30002182	30002182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagctggagctgctcaaCgcttaccagagcaagatcaa	11	11	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:30002182C>T	uc002dvc.1	+	18	3306	c.2523C>T	c.(2521-2523)AAC>AAT	p.N841N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(1)	1						AGCTGCTCAACGCTTACCAGA	0.622													T	30002182	C	T	30002182	2	4	253	1	0	0	0	0	0	0	0	1	15545	535	19	1		1	TAOK2	16	30002182	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	149021	30002182	60352571	660	126258											
C16orf58	64755	broad.mit.edu	37	chr16	31504963	31504963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgattggctgcagttgggtCgagtacctctcccctctgaa	12	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:31504963C>T	uc002eci.1	-	8	931	c.919G>A	c.(919-921)GAC>AAC	p.D307N	C16orf58_uc002ech.1_5'UTR|C16orf58_uc010vfq.1_Missense_Mutation_p.D165N	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	307						integral to membrane				ovary(1)|breast(1)	2						GCAGTTGGGTCGAGTACCTCT	0.637													T	31504963	C	T	31504963	3	4	253	1	0	0	0	0	1	0	0	0	1822	884	31	1	511	1	C16orf58	16	31504963	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1502781	31504963	58849790	661	126259											
ADCY7	113	broad.mit.edu	37	chr16	50338359	50338359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtcagtgcgcatgacccGgtacctcgagtcctgggggg	17	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:50338359G>A	uc002egd.1	+	10	1725	c.1457G>A	c.(1456-1458)CGG>CAG	p.R486Q	ADCY7_uc002egb.1_Missense_Mutation_p.R486Q|ADCY7_uc002egc.1_Missense_Mutation_p.R486Q	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	486	Cytoplasmic (Potential).				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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGCATGACCCGGTACCTCGAG	0.701													A	50338359	G	A	50338359	3	1	253	1	0	0	0	0	1	0	0	0	299	1116	39	1	1495	1	ADCY7	16	50338359	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	18833396	50338359	40016394	662	126260											
RBL2	5934	broad.mit.edu	37	chr16	53513902	53513905	+	Splice_Site	DEL	AAGT	AAGT	-													acagaactaaacaaagatagAagtaagtgggatctttgtga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:53513902_53513905delAAGT	uc002ehi.3	+	19	2999	c.2881_splice	c.e19+1	p.T961_splice	RBL2_uc002ehj.2_Splice_Site_p.T671_splice|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)						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			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ACAAAGATAGAAGTAAGTGGGATC	0.328													-	53513905	AAGT	-	53513902	8	5	253	1	0	1	0	1	0	0	1	0	13110	260	9	0	2954	0	RBL2	16	53513902	Splice_Site	DEL	AAGT	TCGA-HJ-7597-01A-21D-2201-08	3175543	53513902	36840851	663	126261											
IRX6	79190	broad.mit.edu	37	chr16	55362691	55362691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaggaggaGgaagctgaagacgaggaggt	22	2	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:55362691G>T	uc002ehy.2	+	5	1334	c.801G>T	c.(799-801)GAG>GAT	p.E267D	IRX6_uc002ehx.2_Missense_Mutation_p.E267D	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						aggaggaggaggaagctgaag	0.502													T	55362691	G	T	55362691	3	4	253	1	0	0	0	0	1	0	0	0	7848	991	35	5	819	5	IRX6	16	55362691	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1848789	55362691	34992062	664	126262											
NUP93	9688	broad.mit.edu	37	chr16	56782290	56782290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcgggagagcgcctgcGttcccgtaccctaacacgca	13	15	0	1	rs146068835		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:56782290G>A	uc002eka.2	+	2	252	c.131G>A	c.(130-132)CGT>CAT	p.R44H		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	44					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						GAGCGCCTGCGTTCCCGTACC	0.587													A	56782290	G	A	56782290	3	1	253	1	0	0	0	0	1	0	0	0	10772	1145	40	1	133	1	NUP93	16	56782290	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1419599	56782290	33572463	665	126263											
CDH16	1014	broad.mit.edu	37	chr16	66946576	66946576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcacttaccaccctctgCgcctgccaggtccatggcca	10	17	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:66946576C>T	uc002eql.2	-	10	1346	c.1273G>A	c.(1273-1275)GCA>ACA	p.A425T	CDH16_uc010cdy.2_Missense_Mutation_p.A425T|CDH16_uc002eqm.2_Missense_Mutation_p.A328T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	425	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACCCTCTGCGCCTGCCAGG	0.642													T	66946576	C	T	66946576	3	4	253	1	0	0	0	0	1	0	0	0	3101	768	27	1	1252	1	CDH16	16	66946576	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	10164286	66946576	23408177	666	126264											
FHOD1	29109	broad.mit.edu	37	chr16	67271561	67271561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagggacagtctctgaccGgtggtgctggccacagagtt	15	9	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67271561G>A	uc002esl.2	-	7	865	c.753C>T	c.(751-753)ACC>ACT	p.T251T	FHOD1_uc010ced.2_Silent_p.T58T|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	251	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTCTCTGACCGGTGGTGCTGG	0.572													A	67271561	G	A	67271561	2	1	253	1	0	0	0	0	0	0	0	1	5882	1130	39	1		1	FHOD1	16	67271561	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	324985	67271561	23083192	667	126265											
FAM65A	79567	broad.mit.edu	37	chr16	67575405	67575405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagaccaaggacctgtttGccgccctgccccaggttgtg	13	13	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67575405G>A	uc010vjp.1	+	11	1030	c.934G>A	c.(934-936)GCC>ACC	p.A312T	FAM65A_uc010cei.1_Missense_Mutation_p.A134T|FAM65A_uc002eth.2_Missense_Mutation_p.A292T|FAM65A_uc010cej.2_Missense_Mutation_p.A295T|FAM65A_uc002eti.1_Missense_Mutation_p.A255T|FAM65A_uc010vjq.1_Missense_Mutation_p.A306T|FAM65A_uc002etj.1_Missense_Mutation_p.A291T|FAM65A_uc002etk.2_Missense_Mutation_p.A291T	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	296						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		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)		GGACCTGTTTGCCGCCCTGCC	0.567													A	67575405	G	A	67575405	3	1	253	1	0	0	0	0	1	0	0	0	5599	1319	46	2	912	2	FAM65A	16	67575405	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	303844	67575405	22779348	668	126266											
CTCF	10664	broad.mit.edu	37	chr16	67671655	67671656	+	Frame_Shift_Ins	INS	-	-	A													agaacattatagttgaagtaINSaaaaaagagccagatgctga							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67671654_67671655T>TA	uc002etl.3	+	11	2507_2508	c.2063_2064T>TA	c.(2062-2064)gtafs	p.V688fs	CTCF_uc010cek.3_Frame_Shift_Ins_p.V360fs|CTCF_uc002etm.1_Frame_Shift_Ins_p.V175fs	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	688					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)		ATAGTTGAAGTAAAAAAAGAGC	0.51													A	67671656	-	A	67671655	7	5	253	1	0	1	1	0	0	0	0	0	4000	349	13	0	2102	0	CTCF	16	67671655	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	96250	67671655	22683098	669	126267											
RLTPR	146206	broad.mit.edu	37	chr16	67683831	67683831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgacgtggcccaggcgcAgcgcagccgcccggaactga	15	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:67683831A>G	uc002etn.2	+	21	2162	c.2042A>G	c.(2041-2043)CAG>CGG	p.Q681R	RLTPR_uc010cel.1_Missense_Mutation_p.Q674R|RLTPR_uc010vjr.1_Missense_Mutation_p.Q645R	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	681	LRR 16.									breast(1)	1		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)		GCCCAGGCGCAGCGCAGCCGC	0.647													G	67683831	A	G	67683831	3	3	253	1	0	0	0	0	1	0	0	0	13394	188	7	3	2124	3	RLTPR	16	67683831	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	12176	67683831	22670922	670	126268											
CDH1	999	broad.mit.edu	37	chr16	68844111	68844111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcagctcttctctcaCgctgtgtcatccaacgggaa	7	13	6	0	rs115494727	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:68844111C>T	uc002ewg.1	+	6	823	c.699C>T	c.(697-699)CAC>CAT	p.H233H	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.H233H	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	233	Cadherin 1.|Extracellular (Potential).				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	p.?(2)|p.H233Q(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		TCTTCTCTCACGCTGTGTCAT	0.527			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68844111	C	T	68844111	2	4	253	1	0	0	0	0	0	0	0	1	3095	535	19	1		1	CDH1	16	68844111	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1160280	68844111	21510642	671	126269											
COG8	84342	broad.mit.edu	37	chr16	69368569	69368569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccatgggtggctgcAgcgtccccggctgggtggct	18	12	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:69368569A>G	uc002ewy.2	-	3	1339	c.1268T>C	c.(1267-1269)CTG>CCG	p.L423P	COG8_uc002ewz.3_Missense_Mutation_p.L423P	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	423					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GGGTGGCTGCAGCGTCCCCGG	0.582													G	69368569	A	G	69368569	3	3	253	1	0	0	0	0	1	0	0	0	3664	188	7	3	582	3	COG8	16	69368569	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	524458	69368569	20986184	672	126270											
TERF2	7014	broad.mit.edu	37	chr16	69400708	69400708	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaagaaggtcttcatActtgggattcttctctccag	7	10	5	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:69400708A>G	uc002exd.2	-	7	1339	c.1214_splice	c.e7+1	p.K405_splice		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2						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			lung(1)	1		Ovarian(137;0.101)				AGGTCTTCATACTTGGGATTC	0.537													G	69400708	A	G	69400708	5	3	253	1	0	0	0	0	0	0	1	0	15759	405	14	3	302	3	TERF2	16	69400708	Splice_Site	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	32139	69400708	20954045	673	126271											
NFAT5	10725	broad.mit.edu	37	chr16	69726958	69726958	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcacttcaatctggaaAttttttgcagcagtcttctc	7	9	5	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:69726958A>T	uc002exm.1	+	12	4384	c.3176A>T	c.(3175-3177)AAT>ATT	p.N1059I	NFAT5_uc002exi.2_Missense_Mutation_p.N983I|NFAT5_uc002exj.1_Missense_Mutation_p.N983I|NFAT5_uc002exk.1_Missense_Mutation_p.N983I|NFAT5_uc002exl.1_Missense_Mutation_p.N1077I|NFAT5_uc002exn.1_Missense_Mutation_p.N1076I|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1059					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CAATCTGGAAATTTTTTGCAG	0.413													T	69726958	A	T	69726958	3	4	253	1	0	0	0	0	1	0	0	0	10360	101	4	5	3280	5	NFAT5	16	69726958	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	326250	69726958	20627795	674	126272											
GAN	8139	broad.mit.edu	37	chr16	81390507	81390507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaagagtgtagcaatAtaccgctcagccagccgcag	10	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:81390507A>G	uc002fgo.2	+	4	899	c.751A>G	c.(751-753)ATA>GTA	p.I251V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	251					cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GTGTAGCAATATACCGCTCAG	0.507													G	81390507	A	G	81390507	3	3	253	1	0	0	0	0	1	0	0	0	6232	449	16	3	765	3	GAN	16	81390507	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	11663549	81390507	8964246	675	126273											
CMIP	80790	broad.mit.edu	37	chr16	81712153	81712153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcctcatggtcagcccCgcctgcagcaccatgagcat	10	16	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:81712153C>T	uc002fgp.2	+	10	1380	c.1308C>T	c.(1306-1308)CCC>CCT	p.P436P	CMIP_uc002fgq.1_Silent_p.P342P|CMIP_uc010vnq.1_Silent_p.P249P|CMIP_uc002fgr.1_Silent_p.P283P	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	402						cytoplasm|nucleus					0						TGGTCAGCCCCGCCTGCAGCA	0.617													T	81712153	C	T	81712153	2	4	253	1	0	0	0	0	0	0	0	1	3578	639	23	1		1	CMIP	16	81712153	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	321646	81712153	8642600	676	126274											
SLC38A8	146167	broad.mit.edu	37	chr16	84050849	84050849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtaggacatcaagacGtcagcagaaacttctgtccc	10	12	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:84050849G>A	uc002fhg.1	-	7	849	c.849C>T	c.(847-849)GAC>GAT	p.D283D		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	283					amino acid transport|sodium ion transport	integral to membrane					0						ACATCAAGACGTCAGCAGAAA	0.517													A	84050849	G	A	84050849	2	1	253	1	0	0	0	0	0	0	0	1	14610	1136	40	1		1	SLC38A8	16	84050849	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2338696	84050849	6303904	677	126275											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	253	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1631441	85682290	4672463	678	126276											
C16orf74	404550	broad.mit.edu	37	chr16	85743813	85743813	+	Frame_Shift_Del	DEL	G	G	-													agcatcatgcccgtgggggtGgggggcgtgatgatgatgtc					rs112376688		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr16:85743813delG	uc002fjc.3	-	3	305	c.129delC	c.(127-129)CCCfs	p.P43fs		NM_206967	NP_996850	Q96GX8	CP074_HUMAN	MGC17624 protein	43											0						CCGTGGGGGTGGGGGGCGTGA	0.672													-	85743813	G	-	85743813	7	5	253	1	0	1	0	1	0	0	0	0	1833	1335	47	0	109	0	C16orf74	16	85743813	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	61523	85743813	4610940	679	126277											
TSR1	55720	broad.mit.edu	37	chr17	2237832	2237832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaagggaaagggtctccGggggcatctatctgtttcat	12	7	4	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:2237832G>A	uc002fuj.2	-	5	1872	c.915C>T	c.(913-915)CCC>CCT	p.P305P	SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	305					ribosome assembly	nucleolus	protein binding			ovary(1)	1						AAGGGTCTCCGGGGGCATCTA	0.418													A	2237832	G	A	2237832	2	1	253	1	0	0	0	0	0	0	0	1	16661	1103	39	1		1	TSR1	17	2237832	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		2237832	78957378	680	126278											
MYBBP1A	10514	broad.mit.edu	37	chr17	4453567	4453567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactagcacggccagctgccGctcagggtcatcctggcacc	11	17	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:4453567G>A	uc002fyb.3	-	9	1167	c.1105C>T	c.(1105-1107)CGG>TGG	p.R369W	MYBBP1A_uc002fxz.3_Missense_Mutation_p.R369W	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	369	Interaction with MYB (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			ovary(1)|skin(1)	2						GCCAGCTGCCGCTCAGGGTCA	0.607													A	4453567	G	A	4453567	3	1	253	1	0	0	0	0	1	0	0	0	10008	1086	38	1	2993	1	MYBBP1A	17	4453567	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2215735	4453567	76741643	681	126279											
GPR172B	55065	broad.mit.edu	37	chr17	4936399	4936399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccgacccccaccatgCagcagggagcttgcagccac	12	18	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:4936399C>T	uc002gap.3	-	5	1913	c.1200G>A	c.(1198-1200)CTG>CTA	p.L400L	GPR172B_uc002gao.3_Silent_p.L400L|GPR172B_uc010ckw.2_Silent_p.L278L|GPR172B_uc010ckx.2_3'UTR	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	400						integral to plasma membrane	receptor activity|riboflavin transporter activity				0						CCCCACCATGCAGCAGGGAGC	0.617													T	4936399	C	T	4936399	2	4	253	1	0	0	0	0	0	0	0	1	6670	697	25	2		2	GPR172B	17	4936399	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	482832	4936399	76258811	682	126280											
NUP88	4927	broad.mit.edu	37	chr17	5322735	5322737	+	In_Frame_Del	DEL	AAG	AAG	-													ggccccgaaggcgaacgactAagaaggagctgtcttctccg					rs146275519		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:5322735_5322737delAAG	uc002gbo.1	-	1	260_262	c.234_236delCTT	c.(232-237)TTCTTA>TTA	p.F78del	NUP88_uc010vsx.1_In_Frame_Del_p.F78del|NUP88_uc010cle.1_In_Frame_Del_p.F78del|NUP88_uc010vsy.1_In_Frame_Del_p.F78del|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	78					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						GCGAACGACTAAGAAGGAGCTGT	0.645													-	5322737	AAG	-	5322735	7	5	253	1	0	1	0	1	0	0	0	0	10771	372	13	0	2057	0	NUP88	17	5322735	In_Frame_Del	DEL	AAG	TCGA-HJ-7597-01A-21D-2201-08	386336	5322735	75872475	683	126281											
NLRP1	22861	broad.mit.edu	37	chr17	5442750	5442750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaccccaggcgtatgagtTtgcaggcaggatgcctgagc	13	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:5442750T>C	uc002gci.2	-	7	3410	c.2855A>G	c.(2854-2856)AAA>AGA	p.K952R	NLRP1_uc002gcg.1_Missense_Mutation_p.K952R|NLRP1_uc002gck.2_Missense_Mutation_p.K952R|NLRP1_uc002gcj.2_Missense_Mutation_p.K952R|NLRP1_uc002gcl.2_Missense_Mutation_p.K952R|NLRP1_uc002gch.3_Missense_Mutation_p.K952R|NLRP1_uc010clh.2_Missense_Mutation_p.K952R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	952	LRR 6.				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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GCGTATGAGTTTGCAGGCAGG	0.557													C	5442750	T	C	5442750	3	2	253	1	0	0	0	0	1	0	0	0	10471	1841	64	3	1685	3	NLRP1	17	5442750	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	120015	5442750	75752460	684	126282											
WSCD1	23302	broad.mit.edu	37	chr17	6023723	6023723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgctggtggtgcactaCgaggagctgcggcgcagcct	17	12	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:6023723C>T	uc010cli.2	+	9	1849	c.1470C>T	c.(1468-1470)TAC>TAT	p.Y490Y	WSCD1_uc002gcn.2_Silent_p.Y490Y|WSCD1_uc002gco.2_Silent_p.Y490Y|WSCD1_uc010clj.2_Silent_p.Y181Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	490						integral to membrane	sulfotransferase activity				0						TGGTGCACTACGAGGAGCTGC	0.627													T	6023723	C	T	6023723	2	4	253	1	0	0	0	0	0	0	0	1	17403	547	19	1		1	WSCD1	17	6023723	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	580973	6023723	75171487	685	126283											
CLEC10A	10462	broad.mit.edu	37	chr17	6978442	6978442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagggcctctggcagacGtcgtcattccacctgccgtc	12	14	2	1	rs139844327	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:6978442G>A	uc002gek.2	-	9	1185	c.882C>T	c.(880-882)GAC>GAT	p.D294D	CLEC10A_uc002gej.2_Silent_p.D270D|CLEC10A_uc002gel.2_Silent_p.D267D|CLEC10A_uc010clv.1_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	294	C-type lectin.|Extracellular (Potential).				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0						TCTGGCAGACGTCGTCATTCC	0.657													A	6978442	G	A	6978442	2	1	253	1	0	0	0	0	0	0	0	1	3495	1136	40	1		1	CLEC10A	17	6978442	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	954719	6978442	74216768	686	126284											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-													cgcggacgcgggtgccgggcGggggtgtggaatcaacccac							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:7578475delG	uc002gim.2	-	5	649	c.455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGTGCCGGGCGGGGGTGTGGA	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7578475	G	-	7578475	7	5	253	1	0	1	0	1	0	0	0	0	16378	1116	39	0	843	0	TP53	17	7578475	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	600033	7578475	73616735	687	126285											
KDM6B	23135	broad.mit.edu	37	chr17	7753244	7753244	+	Frame_Shift_Del	DEL	C	C	-													ctgccccgggaaaaactcaaCccccctacacccagcatcta					rs147319715		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:7753244delC	uc002giw.1	+	12	3922	c.3546delC	c.(3544-3546)AACfs	p.N1182fs	KDM6B_uc002gix.2_Frame_Shift_Del_p.N484fs	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1182					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)|pancreas(1)	2						AAAAACTCAACCCCCCTACAC	0.552													-	7753244	C	-	7753244	7	5	253	1	0	1	0	1	0	0	0	0	8138	506	18	0	3580	0	KDM6B	17	7753244	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	174769	7753244	73441966	688	126286											
MYH10	4628	broad.mit.edu	37	chr17	8380246	8380246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcaggccctcgttggcctCggtggcatcatccagttccc	11	16	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:8380246C>T	uc002gll.2	-	40	5830	c.5734G>A	c.(5734-5736)GAG>AAG	p.E1912K	MYH10_uc002glm.2_Missense_Mutation_p.E1943K|MYH10_uc010cnx.2_Missense_Mutation_p.E1921K	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1912	Potential.				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			ovary(2)	2						TCGTTGGCCTCGGTGGCATCA	0.617													T	8380246	C	T	8380246	3	4	253	1	0	0	0	0	1	0	0	0	10030	893	31	1	204	1	MYH10	17	8380246	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	627002	8380246	72814964	689	126287											
MYH2	4620	broad.mit.edu	37	chr17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctctgtgCgctggatggcgtccgtctcg	11	17	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:10429940C>T	uc010coi.2	-	30	4291	c.4163G>A	c.(4162-4164)CGC>CAC	p.R1388H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1388H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1388	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1388H(1)		ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTCCTCTGTGCGCTGGATGGC	0.512													T	10429940	C	T	10429940	3	4	253	1	0	0	0	0	1	0	0	0	10035	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2049694	10429940	70765270	690	126288											
NCOR1	9611	broad.mit.edu	37	chr17	16024467	16024467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcatggacctggtgatcCggcccttacggcggccctga	13	13	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:16024467C>T	uc002gpo.2	-	16	1991	c.1751G>A	c.(1750-1752)CGG>CAG	p.R584Q	NCOR1_uc002gpn.2_Missense_Mutation_p.R584Q|NCOR1_uc002gpp.1_Missense_Mutation_p.R475Q|NCOR1_uc002gpr.2_Missense_Mutation_p.R475Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	584					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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCTGGTGATCCGGCCCTTACG	0.607													T	16024467	C	T	16024467	3	4	253	1	0	0	0	0	1	0	0	0	10235	652	23	1	5695	1	NCOR1	17	16024467	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5594527	16024467	65170743	691	126289											
RAI1	10743	broad.mit.edu	37	chr17	17701303	17701303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtttccaaggccctgAgtacctcttgccttgtttgc	10	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:17701303A>G	uc002grm.2	+	3	5510	c.5041A>G	c.(5041-5043)AGT>GGT	p.S1681G	RAI1_uc002grn.1_Missense_Mutation_p.S1681G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1681						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CAAGGCCCTGAGTACCTCTTG	0.627													G	17701303	A	G	17701303	3	3	253	1	0	0	0	0	1	0	0	0	13007	304	11	3	5043	3	RAI1	17	17701303	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1676836	17701303	63493907	692	126290											
SREBF1	6720	broad.mit.edu	37	chr17	17722871	17722871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggacctgctggatctgcGaggtcacagtggtcgttaca	14	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:17722871G>A	uc002gru.1	-	3	886	c.692C>T	c.(691-693)TCG>TTG	p.S231L	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.S207L|SREBF1_uc002grt.1_Missense_Mutation_p.S261L|SREBF1_uc010cpp.1_Missense_Mutation_p.S207L|SREBF1_uc010cpq.1_Missense_Mutation_p.S231L	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	231	Cytoplasmic (Potential).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CTGGATCTGCGAGGTCACAGT	0.667													A	17722871	G	A	17722871	3	1	253	1	0	0	0	0	1	0	0	0	15140	1059	37	1	2819	1	SREBF1	17	17722871	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	21568	17722871	63472339	693	126291											
MYO15A	51168	broad.mit.edu	37	chr17	18023440	18023440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaccagaggacgcgggCgtagagcgtcaggggacctc	18	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:18023440C>T	uc010vxh.1	+	2	1664	c.1326C>T	c.(1324-1326)GGC>GGT	p.G442G		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	442	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					AGGACGCGGGCGTAGAGCGTC	0.657													T	18023440	C	T	18023440	2	4	253	1	0	0	0	0	0	0	0	1	10063	755	27	1		1	MYO15A	17	18023440	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	300569	18023440	63171770	694	126292											
FBXW10	10517	broad.mit.edu	37	chr17	18673378	18673378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgatcctgtgctgtcCttctttattcagggcaacag	11	9	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:18673378C>T	uc002guk.2	+	11	2218	c.1986C>T	c.(1984-1986)TCC>TCT	p.S662S	FBXW10_uc002guj.2_Silent_p.S662S|FBXW10_uc002gul.2_Silent_p.S691S|FBXW10_uc010cqh.1_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	662										ovary(1)	1						CTGTGCTGTCCTTCTTTATTC	0.473													T	18673378	C	T	18673378	2	4	253	1	0	0	0	0	0	0	0	1	5763	668	24	4		4	FBXW10	17	18673378	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	649938	18673378	62521832	695	126293											
EPN2	22905	broad.mit.edu	37	chr17	19186802	19186802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaccagggcatcaatgtgCgtgagaagtcaaagcaactg	13	8	2	1	rs139687943		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:19186802C>T	uc002gvd.3	+	3	818	c.370C>T	c.(370-372)CGT>TGT	p.R124C	EPN2_uc002gvc.2_Missense_Mutation_p.R124C|EPN2_uc010vyn.1_Missense_Mutation_p.R124C|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.R124C|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.R124C|EPN2_uc010vyp.1_Missense_Mutation_p.R124C|EPN2_uc010vyq.1_Missense_Mutation_p.R124C|EPN2_uc002gvh.1_Missense_Mutation_p.R124C	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	124	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CATCAATGTGCGTGAGAAGTC	0.572													T	19186802	C	T	19186802	3	4	253	1	0	0	0	0	1	0	0	0	5186	768	27	1	372	1	EPN2	17	19186802	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	513424	19186802	62008408	696	126294											
WSB1	26118	broad.mit.edu	37	chr17	25630636	25630636	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagggttgaacaatgggcgTatcaaaatatgggatgtata	12	4	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:25630636T>A	uc002gzd.1	+	3	769	c.453T>A	c.(451-453)CGT>CGA	p.R151R	WSB1_uc010vzy.1_Silent_p.R151R|WSB1_uc010vzz.1_Silent_p.R120R|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	151	WD 2.				intracellular signal transduction	intracellular	protein binding				0	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)		ACAATGGGCGTATCAAAATAT	0.388													A	25630636	T	A	25630636	2	1	253	1	0	0	0	0	0	0	0	1	17401	1625	57	5		5	WSB1	17	25630636	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	6443834	25630636	55564574	697	126295											
PIGS	94005	broad.mit.edu	37	chr17	26881438	26881438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacagcttcctggctggCgacaaaggcagatgccaggt	13	11	1	1	rs61755367	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:26881438C>T	uc002hbo.2	-	12	1841	c.1468G>A	c.(1468-1470)GCC>ACC	p.A490T	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.A482T|PIGS_uc010wap.1_Missense_Mutation_p.A429T	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	490	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					TCCTGGCTGGCGACAAAGGCA	0.547													T	26881438	C	T	26881438	3	4	253	1	0	0	0	0	1	0	0	0	11898	768	27	1	203	1	PIGS	17	26881438	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1250802	26881438	54313772	698	126296											
NEK8	284086	broad.mit.edu	37	chr17	27067956	27067956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacccctggaccaggagcCtctgctgagtatagacctgg	12	13	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:27067956C>A	uc002hcp.2	+	12	1685	c.1685C>A	c.(1684-1686)CCT>CAT	p.P562H		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	562						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					GACCAGGAGCCTCTGCTGAGT	0.627													A	27067956	C	A	27067956	3	1	253	1	0	0	0	0	1	0	0	0	10330	681	24	5	1731	5	NEK8	17	27067956	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	186518	27067956	54127254	699	126297											
SLC6A4	6532	broad.mit.edu	37	chr17	28536212	28536212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcgacagtgagcactgCgggccccgtggcatactcct	13	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:28536212C>T	uc002hey.3	-	12	2042	c.1498G>A	c.(1498-1500)GCA>ACA	p.A500T	SLC6A4_uc010csg.2_Intron	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	500	Helical; Name=10; (Potential).				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			skin(3)|ovary(1)	4					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)	GTGAGCACTGCGGGCCCCGTG	0.632													T	28536212	C	T	28536212	3	4	253	1	0	0	0	0	1	0	0	0	14686	768	27	1	410	1	SLC6A4	17	28536212	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1468256	28536212	52658998	700	126298											
EVI2A	2123	broad.mit.edu	37	chr17	29645465	29645465	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgtctgattcagcgggCcatagaccgcttgccagaaa	11	11	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:29645465C>T	uc002hgm.2	-	2	782	c.567G>A	c.(565-567)TGG>TGA	p.W189*	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Nonsense_Mutation_p.W212*	NM_014210	NP_055025	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 2	189	Cytoplasmic (Potential).					integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		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)		ATTCAGCGGGCCATAGACCGC	0.473													T	29645465	C	T	29645465	4	4	253	1	0	0	0	0	0	1	0	0	5287	740	26	2	147	2	EVI2A	17	29645465	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1109253	29645465	51549745	701	126299											
RASL10B	91608	broad.mit.edu	37	chr17	34068069	34068069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagggtgatcggaacctcAgagacgcccatcatcatcgt	10	13	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:34068069A>G	uc002hju.2	+	4	723	c.357A>G	c.(355-357)TCA>TCG	p.S119S		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	119	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCGGAACCTCAGAGACGCCCA	0.637													G	34068069	A	G	34068069	2	3	253	1	0	0	0	0	0	0	0	1	13080	175	7	3		3	RASL10B	17	34068069	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	4422604	34068069	47127141	702	126300											
GPR179	440435	broad.mit.edu	37	chr17	36489178	36489178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcactccaggctgaggCgatgctgctgccaaggtagg	15	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:36489178C>T	uc002hpz.2	-	10	2014	c.1993G>A	c.(1993-1995)GCC>ACC	p.A665T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	665	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGCTGAGGCGATGCTGCTG	0.612													T	36489178	C	T	36489178	3	4	253	1	0	0	0	0	1	0	0	0	6674	768	27	1	5118	1	GPR179	17	36489178	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2421109	36489178	44706032	703	126301											
CDK12	51755	broad.mit.edu	37	chr17	37646922	37646922	+	Frame_Shift_Del	DEL	C	C	-													tccctggtggagatctgtctCccccagactctccagaacca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:37646922delC	uc010cvv.2	+	3	2630	c.2044delC	c.(2044-2046)CCCfs	p.P682fs	CDK12_uc010wef.1_Frame_Shift_Del_p.P681fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.P682fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	682					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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						AGATCTGTCTCCCCCAGACTC	0.468										TCGA Ovarian(9;0.13)			-	37646922	C	-	37646922	7	5	253	1	0	1	0	1	0	0	0	0	3128	855	30	0	2054	0	CDK12	17	37646922	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	1157744	37646922	43548288	704	126302											
KRT24	192666	broad.mit.edu	37	chr17	38855782	38855782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaattgcttgtactctgcGttctggcatttagtctcacc	8	11	3	0	rs139679856		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:38855782G>A	uc002hvd.2	-	6	1332	c.1275C>T	c.(1273-1275)AAC>AAT	p.N425N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	425	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				TGTACTCTGCGTTCTGGCATT	0.547													A	38855782	G	A	38855782	2	1	253	1	0	0	0	0	0	0	0	1	8461	1136	40	1		1	KRT24	17	38855782	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1208860	38855782	42339428	705	126303											
KRT23	25984	broad.mit.edu	37	chr17	39092491	39092491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtgatgttttcctcaTactgggaataatctttctta	9	6	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39092491T>C	uc002hvm.1	-	2	954	c.365A>G	c.(364-366)TAT>TGT	p.Y122C	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.Y122C|KRT23_uc002hvn.1_Missense_Mutation_p.Y122C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	122	Rod.|Linker 1.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				GTTTTCCTCATACTGGGAATA	0.542													C	39092491	T	C	39092491	3	2	253	1	0	0	0	0	1	0	0	0	8460	1406	49	3	935	3	KRT23	17	39092491	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	236709	39092491	42102719	706	126304											
KRT23	25984	broad.mit.edu	37	chr17	39092616	39092616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggaggccaggcggtcGttgagattctgcatggtggc	18	7	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39092616G>A	uc002hvm.1	-	2	829	c.240C>T	c.(238-240)AAC>AAT	p.N80N	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.N80N|KRT23_uc002hvn.1_Silent_p.N80N	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	80	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CCAGGCGGTCGTTGAGATTCT	0.612													A	39092616	G	A	39092616	2	1	253	1	0	0	0	0	0	0	0	1	8460	1136	40	1		1	KRT23	17	39092616	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	125	39092616	42102594	707	126305											
KRT32	3882	broad.mit.edu	37	chr17	39622145	39622145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggccattgatgtcggcCtccaccagctgccgcatggc	12	16	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39622145C>T	uc002hwr.2	-	3	649	c.588G>A	c.(586-588)GAG>GAA	p.E196E		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	196	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				TGATGTCGGCCTCCACCAGCT	0.587													T	39622145	C	T	39622145	2	4	253	1	0	0	0	0	0	0	0	1	8468	680	24	4		4	KRT32	17	39622145	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	529529	39622145	41573065	708	126306											
KRT14	3861	broad.mit.edu	37	chr17	39740077	39740077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttctcatactggtcacGcatctcgttcagaatgcggc	8	13	5	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:39740077G>A	uc002hxf.1	-	4	923	c.862C>T	c.(862-864)CGT>TGT	p.R288C	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R288C	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				TACTGGTCACGCATCTCGTTC	0.557													A	39740077	G	A	39740077	3	1	253	1	0	0	0	0	1	0	0	0	8451	1087	38	1	576	1	KRT14	17	39740077	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	117932	39740077	41455133	709	126307											
DHX58	79132	broad.mit.edu	37	chr17	40263776	40263777	+	Frame_Shift_Del	DEL	CA	CA	-													acaaccaccttggctccatcCacagtctctaggtgccgctt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:40263775_40263776CCA>C	uc002hyw.3	-	2	358_359	c.135_136TGG>G	c.(133-138)gtggatfs	p.V45fs	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Frame_Shift_Del_p.V45fs	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	45	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein 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)		TTGGCTCCATCCACAGTCTCTA	0.604													-	40263777	CA	-	40263776	7	5	253	1	0	1	0	1	0	0	0	0	4514	581	21	0	1949	0	DHX58	17	40263776	Frame_Shift_Del	DEL	CA	TCGA-HJ-7597-01A-21D-2201-08	523699	40263776	40931434	710	126308											
HSD17B1	3292	broad.mit.edu	37	chr17	40705214	40705214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccctggcatgccctcCgggatccctggagacgttgc	14	16	0	1	rs61738807		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:40705214C>T	uc002hzw.2	+	2	1138	c.170C>T	c.(169-171)CCG>CTG	p.P57L	HSD17B1_uc002hzx.2_Missense_Mutation_p.P57L|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Missense_Mutation_p.G123R|HSD17B1_uc010cyi.2_Missense_Mutation_p.P88L	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	57					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GCATGCCCTCCGGGATCCCTG	0.652													T	40705214	C	T	40705214	3	4	253	1	0	0	0	0	1	0	0	0	7378	652	23	1	176	1	HSD17B1	17	40705214	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	441438	40705214	40489996	711	126309											
AOC2	314	broad.mit.edu	37	chr17	40997145	40997145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatcaccgtcgcccggtgCtgagagctgagtttacacag	11	13	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:40997145C>A	uc002ibu.2	+	1	537	c.502C>A	c.(502-504)CTG>ATG	p.L168M	AOC2_uc002ibt.2_Missense_Mutation_p.L168M	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	168					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			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGCCCGGTGCTGAGAGCTGA	0.607													A	40997145	C	A	40997145	3	1	253	1	0	0	0	0	1	0	0	0	727	796	28	5	504	5	AOC2	17	40997145	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	291931	40997145	40198065	712	126310											
ETV4	2118	broad.mit.edu	37	chr17	41606543	41606543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataatagtatcggagcgagCggctcagcttgtcgtaattc	11	9	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:41606543C>T	uc002idw.2	-	12	1318	c.1190G>A	c.(1189-1191)CGC>CAC	p.R397H	ETV4_uc002idv.2_Missense_Mutation_p.R120H|ETV4_uc010wih.1_Missense_Mutation_p.R343H|ETV4_uc010czh.2_Missense_Mutation_p.R396H|ETV4_uc010wii.1_Missense_Mutation_p.R358H|ETV4_uc002idx.2_Missense_Mutation_p.R397H|ETV4_uc010wij.1_Missense_Mutation_p.R358H	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	397	ETS.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TCGGAGCGAGCGGCTCAGCTT	0.562			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								T	41606543	C	T	41606543	3	4	253	1	0	0	0	0	1	0	0	0	5281	768	27	1	272	1	ETV4	17	41606543	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	609398	41606543	39588667	713	126311											
GPATCH8	23131	broad.mit.edu	37	chr17	42475981	42475981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacttcttattgggctttCgggtagctgggagcttccct	11	11	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:42475981C>T	uc002igw.1	-	8	3528	c.3464G>A	c.(3463-3465)CGA>CAA	p.R1155Q	GPATCH8_uc002igv.1_Missense_Mutation_p.R1077Q|GPATCH8_uc010wiz.1_Missense_Mutation_p.R1077Q	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1155						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTGGGCTTTCGGGTAGCTGG	0.552													T	42475981	C	T	42475981	3	4	253	1	0	0	0	0	1	0	0	0	6594	884	31	1	1048	1	GPATCH8	17	42475981	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	869438	42475981	38719229	714	126312											
ARHGAP27	201176	broad.mit.edu	37	chr17	43475388	43475388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcgtgctggatcaggTactcagagccatctcggctc	12	13	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:43475388T>C	uc002iix.2	-	10	1195	c.746A>G	c.(745-747)TAC>TGC	p.Y249C	ARHGAP27_uc010dak.2_Missense_Mutation_p.Y222C|ARHGAP27_uc010wjl.1_Missense_Mutation_p.Y368C	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	590	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					CTGGATCAGGTACTCAGAGCC	0.612													C	43475388	T	C	43475388	3	2	253	1	0	0	0	0	1	0	0	0	876	1638	57	3	932	3	ARHGAP27	17	43475388	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	999407	43475388	37719822	715	126313											
CRHR1	1394	broad.mit.edu	37	chr17	43907538	43907538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaacgccacctggttcgtGgtccagctaaccatgagccc	10	16	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:43907538G>A	uc010dap.2	+	7	865	c.600G>A	c.(598-600)GTG>GTA	p.V200V	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.V70V|CRHR1_uc002ijm.2_Silent_p.V171V|CRHR1_uc002ijn.2_Silent_p.V131V|CRHR1_uc010dar.2_Silent_p.V171V|CRHR1_uc010dao.2_Silent_p.V70V|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	200	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGGTTCGTGGTCCAGCTAA	0.642													A	43907538	G	A	43907538	2	1	253	1	0	0	0	0	0	0	0	1	3871	1335	47	4		4	CRHR1	17	43907538	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	432150	43907538	37287672	716	126314											
CRHR1	1394	broad.mit.edu	37	chr17	43912090	43912090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccccacctccccaacccGtgtcagctttcacagcatca	4	20	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:43912090G>A	uc010dap.2	+	14	1560	c.1295G>A	c.(1294-1296)CGT>CAT	p.R432H	CRHR1_uc010wjx.1_Missense_Mutation_p.R228H|CRHR1_uc002ijp.2_Missense_Mutation_p.V257M|CRHR1_uc002ijm.2_Missense_Mutation_p.R403H|CRHR1_uc002ijn.2_Missense_Mutation_p.R363H|CRHR1_uc010dar.2_Missense_Mutation_p.R389H|CRHR1_uc010dao.2_Missense_Mutation_p.R302H|CRHR1_uc010daq.2_Missense_Mutation_p.R228H	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	432	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCCCAACCCGTGTCAGCTTT	0.642													A	43912090	G	A	43912090	3	1	253	1	0	0	0	0	1	0	0	0	3871	1145	40	1	1349	1	CRHR1	17	43912090	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4552	43912090	37283120	717	126315											
HOXB3	3213	broad.mit.edu	37	chr17	46627995	46627995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgttggcttggaggaCgtgcggctcatactcgggcg	16	13	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:46627995C>T	uc002inn.2	-	2	1397	c.997G>A	c.(997-999)GTC>ATC	p.V333I	HOXB3_uc010wlm.1_Missense_Mutation_p.V260I|HOXB3_uc010dbf.2_Missense_Mutation_p.V333I|HOXB3_uc010dbg.2_Missense_Mutation_p.V333I|HOXB3_uc002ino.2_Missense_Mutation_p.V333I|HOXB3_uc010wlk.1_Missense_Mutation_p.V201I|HOXB3_uc010wll.1_Missense_Mutation_p.V260I	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	333					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTTGGAGGACGTGCGGCTCA	0.721											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46627995	C	T	46627995	3	4	253	1	0	0	0	0	1	0	0	0	7302	536	19	1	302	1	HOXB3	17	46627995	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2715905	46627995	34567215	718	126316											
FAM117A	81558	broad.mit.edu	37	chr17	47788852	47788852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaaggctgagccagtcGggttgaaatggactttgttc	15	7	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:47788852G>T	uc002ipk.2	-	8	1196	c.1127C>A	c.(1126-1128)CCG>CAG	p.P376Q	FAM117A_uc010wlz.1_Missense_Mutation_p.P104Q	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	376										ovary(1)	1						TGAGCCAGTCGGGTTGAAATG	0.562													T	47788852	G	T	47788852	3	4	253	1	0	0	0	0	1	0	0	0	5409	1116	39	5	238	5	FAM117A	17	47788852	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1160857	47788852	33406358	719	126317											
KIF2B	84643	broad.mit.edu	37	chr17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcagcgggaaaagcGcaggcggctgcagcaggaga	19	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:51900882G>A	uc002iua.2	+	1	644	c.488G>A	c.(487-489)CGC>CAC	p.R163H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163	Potential.				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			ovary(5)|skin(3)	8						CGGGAAAAGCGCAGGCGGCTG	0.547													A	51900882	G	A	51900882	3	1	253	1	0	0	0	0	1	0	0	0	8298	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4112030	51900882	29294328	720	126318											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	253	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	4534279	56435161	24760049	721	126319											
RNF43	54894	broad.mit.edu	37	chr17	56439936	56439936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggggcggcaccggatgCgcagcaccgaagccaggatg	19	12	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:56439936C>T	uc002iwf.2	-	5	2612	c.656G>A	c.(655-657)CGC>CAC	p.R219H	RNF43_uc010wnv.1_Missense_Mutation_p.R178H|RNF43_uc002iwh.3_Missense_Mutation_p.R219H|RNF43_uc002iwg.3_Missense_Mutation_p.R219H|RNF43_uc010dcw.2_Missense_Mutation_p.R92H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	219	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACCGGATGCGCAGCACCGA	0.612													T	56439936	C	T	56439936	3	4	253	1	0	0	0	0	1	0	0	0	13495	768	27	1	1715	1	RNF43	17	56439936	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4775	56439936	24755274	722	126320											
CCDC45	90799	broad.mit.edu	37	chr17	62528036	62528036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacagaggagaagctgttcGtaaaggaactccagaatgta	11	6	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:62528036G>A	uc002jem.2	+	14	1626	c.1568G>A	c.(1567-1569)CGT>CAT	p.R523H	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.R359H|CCDC45_uc002jeo.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	523						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GAAGCTGTTCGTAAAGGAACT	0.358													A	62528036	G	A	62528036	3	1	253	1	0	0	0	0	1	0	0	0	2816	1145	40	1	1622	1	CCDC45	17	62528036	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6088100	62528036	18667174	723	126321											
CACNG5	27091	broad.mit.edu	37	chr17	64881181	64881181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccaccctggcttctacCgccctcggctgagcaactgc	10	19	1	1	rs141669982		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:64881181C>T	uc010wqi.1	+	6	889	c.652C>T	c.(652-654)CGC>TGC	p.R218C	CACNG5_uc010wqj.1_Missense_Mutation_p.R218C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	218				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGCTTCTACCGCCCTCGGCT	0.622													T	64881181	C	T	64881181	3	4	253	1	0	0	0	0	1	0	0	0	2560	652	23	1	987	1	CACNG5	17	64881181	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2353145	64881181	16314029	724	126322											
NOL11	25926	broad.mit.edu	37	chr17	65718702	65718703	+	Frame_Shift_Del	DEL	AA	AA	-													ttctttttttgtagatggacAaagtttttcgtagtattcag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:65718702_65718703delAA	uc002jgd.1	+	5	471_472	c.468_469delAA	c.(466-471)ACAAAGfs	p.T156fs	NOL11_uc010wql.1_Intron|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	156_157						nucleolus					0	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)			GTAGATGGACAAAGTTTTTCGT	0.267													-	65718703	AA	-	65718702	7	5	253	1	0	1	0	1	0	0	0	0	10521	117	5	0	486	0	NOL11	17	65718702	Frame_Shift_Del	DEL	AA	TCGA-HJ-7597-01A-21D-2201-08	837521	65718702	15476508	725	126323											
ABCA5	23461	broad.mit.edu	37	chr17	67298996	67298996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaaattcaactattcCcacatgttttgattttttaa	2	7	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:67298996C>T	uc002jif.2	-	7	2200	c.982G>A	c.(982-984)GGA>AGA	p.G328R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.G328R|ABCA5_uc002jih.2_Missense_Mutation_p.G328R|ABCA5_uc010dfe.2_Missense_Mutation_p.G328R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	328	Helical; (Potential).				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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TCAACTATTCCCACATGTTTT	0.308													T	67298996	C	T	67298996	3	4	253	1	0	0	0	0	1	0	0	0	35	632	22	4	4074	4	ABCA5	17	67298996	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1580294	67298996	13896214	726	126324											
DNAI2	64446	broad.mit.edu	37	chr17	72301522	72301522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacttcctgacggttggCgactggacagcccgcatttg	12	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:72301522C>T	uc002jkf.2	+	9	1251	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	384	WD 4.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						TGACGGTTGGCGACTGGACAG	0.577									Kartagener_syndrome				T	72301522	C	T	72301522	2	4	253	1	0	0	0	0	0	0	0	1	4610	755	27	1		1	DNAI2	17	72301522	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5002526	72301522	8893688	727	126325											
KIAA0195	9772	broad.mit.edu	37	chr17	73482483	73482483	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtagagcggaggctgCgagggatcattgaccaaatc	17	7	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73482483C>T	uc002jnz.3	+	5	660	c.385C>T	c.(385-387)CGA>TGA	p.R129*	KIAA0195_uc010wsa.1_Nonsense_Mutation_p.R139*	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	129					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			GCGGAGGCTGCGAGGGATCAT	0.582													T	73482483	C	T	73482483	4	4	253	1	0	0	0	0	0	1	0	0	8160	760	27	1	399	1	KIAA0195	17	73482483	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1180961	73482483	7712727	728	126326											
TRIM65	201292	broad.mit.edu	37	chr17	73888549	73888549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggctgctgaacttgccGgagacccaggaggccaagat	14	11	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73888549G>A	uc002jpx.2	-	3	579	c.543C>T	c.(541-543)TCC>TCT	p.S181S		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	181	Potential.					intracellular	zinc ion binding				0			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)			TGAACTTGCCGGAGACCCAGG	0.647													A	73888549	G	A	73888549	2	1	253	1	0	0	0	0	0	0	0	1	16536	1103	39	1		1	TRIM65	17	73888549	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	406066	73888549	7306661	729	126327											
FBF1	85302	broad.mit.edu	37	chr17	73910251	73910251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagcttgacacgcagggcGgtggcgttgatcctctcctt	14	12	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73910251G>A	uc002jqc.2	-	25	3172	c.2898C>T	c.(2896-2898)ACC>ACT	p.T966T	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.T957T|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Silent_p.T276T	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	966											0						CACGCAGGGCGGTGGCGTTGA	0.692													A	73910251	G	A	73910251	2	1	253	1	0	0	0	0	0	0	0	1	5695	1103	39	1		1	FBF1	17	73910251	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	21702	73910251	7284959	730	126328											
FBF1	85302	broad.mit.edu	37	chr17	73915794	73915794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctggtccttctcctgcGctatggccgccaagcgccgc	10	17	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:73915794G>A	uc002jqc.2	-	19	2322	c.2048C>T	c.(2047-2049)GCG>GTG	p.A683V	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.A674V|FBF1_uc002jqd.1_Missense_Mutation_p.A684V|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	683											0						CTTCTCCTGCGCTATGGCCGC	0.657													A	73915794	G	A	73915794	3	1	253	1	0	0	0	0	1	0	0	0	5695	1087	38	1	1397	1	FBF1	17	73915794	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5543	73915794	7279416	731	126329											
EVPL	2125	broad.mit.edu	37	chr17	74018596	74018596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccgccatgcccggcccGtactggcctgcgcagacctg	12	18	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:74018596G>A	uc002jqi.2	-	5	732	c.504C>T	c.(502-504)TAC>TAT	p.Y168Y	EVPL_uc010wss.1_Silent_p.Y168Y|EVPL_uc010wst.1_Translation_Start_Site	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	168	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGCCCGGCCCGTACTGGCCTG	0.682													A	74018596	G	A	74018596	2	1	253	1	0	0	0	0	0	0	0	1	5292	1140	40	1		1	EVPL	17	74018596	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	102802	74018596	7176614	732	126330											
TNRC6C	57690	broad.mit.edu	37	chr17	76075622	76075622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtttctatcccctcaGgtcagacccacatccaagca	5	17	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:76075622G>T	uc002jud.2	+	11	3957	c.3357G>T	c.(3355-3357)CAG>CAT	p.Q1119H	TNRC6C_uc002juf.2_Missense_Mutation_p.Q1116H	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1119					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TATCCCCTCAGGTCAGACCCA	0.537													T	76075622	G	T	76075622	3	4	253	1	0	0	0	0	1	0	0	0	16339	1014	35	5	3387	5	TNRC6C	17	76075622	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2057026	76075622	5119588	733	126331											
DNAH17	8632	broad.mit.edu	37	chr17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-													cttaccttgtagtccaggttGggggggatctgaaagccggg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:76425216_76425216TG>T	uc010dhp.2	-	75	12516	c.12391_12391CA>A	c.(12391-12393)aacfs	p.N4131fs	DNAH17_uc002jvq.3_Frame_Shift_Del_p.N416fs|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											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)			TAGTCCAGGTTGGGGGGGATC	0.582													-	76425217	G	-	76425217	7	5	253	1	0	1	0	1	0	0	0	0	4601	1335	47	0	1022	0	DNAH17	17	76425217	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	349595	76425217	4769993	734	126332											
ENGASE	64772	broad.mit.edu	37	chr17	77081777	77081779	+	In_Frame_Del	DEL	GGA	GGA	-													tcacggccgccgggtagtcgGgaggaggagagcttcacctg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:77081776_77081778GGGA>G	uc002jwv.3	+	12	1783_1785	c.1775_1777GGGA>G	c.(1774-1779)cgggag>cGag	p.E595del	ENGASE_uc002jww.3_In_Frame_Del_p.E300del	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	595						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCGGGTAGTCGGGAGGAGGAGAG	0.64													-	77081779	GGA	-	77081777	7	5	253	1	0	1	0	1	0	0	0	0	5118	1219	43	0	1826	0	ENGASE	17	77081777	In_Frame_Del	DEL	GGA	TCGA-HJ-7597-01A-21D-2201-08	656560	77081777	4113433	735	126333											
ENPP7	339221	broad.mit.edu	37	chr17	77709045	77709045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggggagccggactccacGggccacaggtacggccccga	15	15	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:77709045G>A	uc002jxa.2	+	3	623	c.603G>A	c.(601-603)ACG>ACA	p.T201T		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	201					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGACTCCACGGGCCACAGGT	0.652													A	77709045	G	A	77709045	2	1	253	1	0	0	0	0	0	0	0	1	5135	1103	39	1		1	ENPP7	17	77709045	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	627268	77709045	3486165	736	126334											
RNF213	57674	broad.mit.edu	37	chr17	78363631	78363631	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctattccttctgcaggccTtaaacagatgccagttaaaa	6	10	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:78363631T>C	uc002jyh.1	+	41	9641	c.9418T>C	c.(9418-9420)TTA>CTA	p.L3140L	uc002jyi.1_Intron|RNF213_uc010dhx.1_Silent_p.L84L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCTGCAGGCCTTAAACAGATG	0.537													C	78363631	T	C	78363631	2	2	253	1	0	0	0	0	0	0	0	1	13477	1606	56	3		3	RNF213	17	78363631	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	654586	78363631	2831579	737	126335											
ARL16	339231	broad.mit.edu	37	chr17	79648877	79648877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctgattaatgacttcAtctcctccgtggacatgtaa	8	10	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:79648877A>G	uc002kbf.2	-	5	554	c.455T>C	c.(454-456)ATG>ACG	p.M152T	ARL16_uc002kbe.2_Missense_Mutation_p.M81T|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	152							GTP binding				0	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TAATGACTTCATCTCCTCCGT	0.577													G	79648877	A	G	79648877	3	3	253	1	0	0	0	0	1	0	0	0	932	217	8	3	142	3	ARL16	17	79648877	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1285246	79648877	1546333	738	126336											
HEXDC	284004	broad.mit.edu	37	chr17	80400298	80400299	+	Frame_Shift_Ins	INS	-	-	G													ggggctcctgctggaggctgINSggggggctctgcactgccaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr17:80400297_80400298T>TG	uc002kev.4	+	11	2003_2004	c.1587_1588T>TG	c.(1585-1590)gctgggfs	p.A529fs	HEXDC_uc002kew.3_3'UTR|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	89					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)			TGCTGGAGGCTGGGGGGGCTCT	0.693													G	80400299	-	G	80400298	7	5	253	1	0	1	1	0	0	0	0	0	7075	1348	47	0	1630	0	HEXDC	17	80400298	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	751421	80400298	794912	739	126337											
YES1	7525	broad.mit.edu	37	chr18	732849	732849	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacctggatatggcactcGgccctttgttactagttctg	9	11	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:732849G>T	uc002kky.2	-	11	1629	c.1408C>A	c.(1408-1410)CGA>AGA	p.R470R	YES1_uc002kkz.2_Silent_p.R470R	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	470	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	TATGGCACTCGGCCCTTTGTT	0.418													T	732849	G	T	732849	2	4	253	1	0	0	0	0	0	0	0	1	17471	1124	39	5		5	YES1	18	732849	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		732849	77344399	740	126338											
LAMA1	284217	broad.mit.edu	37	chr18	7023203	7023203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcgtccccatagaacccGtcagcacacctttcacagtg	7	16	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:7023203G>A	uc002knm.2	-	19	2755	c.2661C>T	c.(2659-2661)GAC>GAT	p.D887D	LAMA1_uc010wzj.1_Silent_p.D363D	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	887	Laminin EGF-like 8.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATAGAACCCGTCAGCACACC	0.587													A	7023203	G	A	7023203	2	1	253	1	0	0	0	0	0	0	0	1	8605	1136	40	1		1	LAMA1	18	7023203	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6290354	7023203	71054045	741	126339											
KIAA0802	23255	broad.mit.edu	37	chr18	8813106	8813106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctggtcatggacctgCgctggcagatccatcacagc	11	14	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:8813106C>T	uc002knr.2	+	12	2876	c.2734C>T	c.(2734-2736)CGC>TGC	p.R912C	KIAA0802_uc002knq.2_Missense_Mutation_p.R871C|KIAA0802_uc002kns.2_Missense_Mutation_p.R280C	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1222											0						CATGGACCTGCGCTGGCAGAT	0.592													T	8813106	C	T	8813106	3	4	253	1	0	0	0	0	1	0	0	0	8194	768	27	1	2772	1	KIAA0802	18	8813106	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1789903	8813106	69264142	742	126340											
RIOK3	8780	broad.mit.edu	37	chr18	21044503	21044503	+	Frame_Shift_Del	DEL	A	A	-													caaaaccggttcccactcctAaaaagggctttattggaaaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:21044502_21044502TA>T	uc002kui.4	+	4	1070	c.453_453TA>T	c.(451-453)cctfs	p.P151fs	RIOK3_uc010dls.3_Frame_Shift_Del_p.P151fs|RIOK3_uc010xas.2_Frame_Shift_Del_p.P135fs|RIOK3_uc010xat.2_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	151					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)					TTCCCACTCCTAAAAAGGGCT	0.363													-	21044503	A	-	21044503	7	5	253	1	0	1	0	1	0	0	0	0	13379	363	13	0	472	0	RIOK3	18	21044503	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	12231397	21044503	57032745	743	126341											
C18orf10	25941	broad.mit.edu	37	chr18	34408646	34408646	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtgccccctttcctcacCtaggatgcgcgtgatgccca	9	17	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:34408646C>A	uc002kzw.1	-	1	513	c.85G>T	c.(85-87)GAA>TAA	p.E29*	KIAA1328_uc002kzz.2_5'Flank|C18orf10_uc002kzv.1_Nonsense_Mutation_p.E29*|C18orf10_uc010xci.1_Nonsense_Mutation_p.E29*|C18orf10_uc002kzx.1_Nonsense_Mutation_p.E29*|C18orf10_uc002kzy.3_Nonsense_Mutation_p.E29*	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	29						cytoplasm|microtubule				skin(1)	1						CTTTCCTCACCTAGGATGCGC	0.682													A	34408646	C	A	34408646	4	1	253	1	0	0	0	0	0	1	0	0	1895	695	24	5	845	5	C18orf10	18	34408646	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	13364143	34408646	43668602	744	126342											
ATP5A1	498	broad.mit.edu	37	chr18	43666116	43666116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaactcagttagacgcacGccacgactcaaaagttgttg	9	11	2	1	rs143320751		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:43666116G>A	uc002lbr.1	-	10	1482	c.1392C>T	c.(1390-1392)GGC>GGT	p.G464G	ATP5A1_uc010dnl.1_Silent_p.G414G|ATP5A1_uc002lbs.1_Silent_p.G414G|ATP5A1_uc002lbt.1_Silent_p.G464G	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	464					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				0						TTAGACGCACGCCACGACTCA	0.478													A	43666116	G	A	43666116	2	1	253	1	0	0	0	0	0	0	0	1	1147	1074	38	1		1	ATP5A1	18	43666116	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	9257470	43666116	34411132	745	126343											
MBD1	4152	broad.mit.edu	37	chr18	47800666	47800666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccacagtccatccgccGtaggcaggctgcacaggccc	13	17	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:47800666G>A	uc010dow.1	-	11	1473	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.R296W|MBD1_uc010xdi.1_Missense_Mutation_p.R397W|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.R346W|MBD1_uc002lei.3_Missense_Mutation_p.R346W|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.R297W|MBD1_uc002lel.3_Missense_Mutation_p.R323W|MBD1_uc002lem.3_Missense_Mutation_p.R346W|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.R371W|MBD1_uc010dox.1_Missense_Mutation_p.R323W|MBD1_uc002leo.2_Missense_Mutation_p.R346W	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	346	CXXC-type 3.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TCCATCCGCCGTAGGCAGGCT	0.642													A	47800666	G	A	47800666	3	1	253	1	0	0	0	0	1	0	0	0	9342	1144	40	1	999	1	MBD1	18	47800666	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4134550	47800666	30276582	746	126344											
C18orf54	162681	broad.mit.edu	37	chr18	51888230	51888230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcattggacattgagaagaaTccacattttcaaggacccta	7	9	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:51888230T>A	uc002lfn.3	+	3	617	c.501T>A	c.(499-501)AAT>AAA	p.N167K	C18orf54_uc002lfo.3_Missense_Mutation_p.N167K	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	167						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TTGAGAAGAATCCACATTTTC	0.403													A	51888230	T	A	51888230	3	1	253	1	0	0	0	0	1	0	0	0	1904	1432	50	5	507	5	C18orf54	18	51888230	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	4087564	51888230	26189018	747	126345											
ALPK2	115701	broad.mit.edu	37	chr18	56171292	56171292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccatccctgatggaatActtcacaaattctccaatca	3	13	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:56171292A>G	uc002lhj.3	-	11	6332	c.6118T>C	c.(6118-6120)TAT>CAT	p.Y2040H		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2040	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CTGATGGAATACTTCACAAAT	0.443													G	56171292	A	G	56171292	3	3	253	1	0	0	0	0	1	0	0	0	545	391	14	3	406	3	ALPK2	18	56171292	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	4283062	56171292	21905956	748	126346											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013286	+	Splice_Site	INS	-	-	T													ttctttatctggtgtgggctINStttttttggagttttggaat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGGA	0.297													T	57013286	-	T	57013285	8	5	253	1	0	1	1	0	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	INS	-	TCGA-HJ-7597-01A-21D-2201-08	841993	57013285	21063963	749	126347											
FBXO15	201456	broad.mit.edu	37	chr18	71740947	71740947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcatccaaaagagttaCgtccatcatggaacaactct	6	10	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:71740947C>T	uc002lle.2	-	10	1390	c.1054G>A	c.(1054-1056)GTA>ATA	p.V352I	FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.V428I	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	352										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAAGAGTTACGTCCATCATG	0.453													T	71740947	C	T	71740947	3	4	253	1	0	0	0	0	1	0	0	0	5728	536	19	1	254	1	FBXO15	18	71740947	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	14727662	71740947	6336301	750	126348											
NFATC1	4772	broad.mit.edu	37	chr18	77246762	77246762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagcccagcgtgcccGcccgccacgggccgcccgca	12	23	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr18:77246762G>A	uc010xfg.1	+	9	3060	c.2607G>A	c.(2605-2607)CCG>CCA	p.P869P	NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P397P|NFATC1_uc002lnf.2_Silent_p.P856P|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	869	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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGCGTGCCCGCCCGCCACGG	0.726													A	77246762	G	A	77246762	2	1	253	1	0	0	0	0	0	0	0	1	10361	1074	38	1		1	NFATC1	18	77246762	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5505815	77246762	830486	751	126349											
ODF3L2	284451	broad.mit.edu	37	chr19	474683	474683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccggaatctggccctccGtcactcgccggccaaggggg	13	16	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:474683G>A	uc002lor.2	-	1	301	c.65C>T	c.(64-66)ACG>ATG	p.T22M	ODF3L2_uc010drp.2_Missense_Mutation_p.T22M	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	22											0						CTGGCCCTCCGTCACTCGCCG	0.711													A	474683	G	A	474683	3	1	253	1	0	0	0	0	1	0	0	0	10832	1145	40	1	820	1	ODF3L2	19	474683	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		474683	58654300	752	126350											
HCN2	610	broad.mit.edu	37	chr19	605121	605121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgcaatctcatcagcAtgatgctgctgctctgccac	9	13	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:605121A>G	uc002lpe.2	+	3	1170	c.1117A>G	c.(1117-1119)ATG>GTG	p.M373V		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	373	Helical; Name=Segment S5; (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		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)		TCTCATCAGCATGATGCTGCT	0.607													G	605121	A	G	605121	3	3	253	1	0	0	0	0	1	0	0	0	6997	217	8	3	1127	3	HCN2	19	605121	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	130438	605121	58523862	753	126351											
HCN2	610	broad.mit.edu	37	chr19	613949	613949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacaacttcaacgaggtGctggaggagtaccccatgat	13	9	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:613949G>A	uc002lpe.2	+	7	1976	c.1923G>A	c.(1921-1923)GTG>GTA	p.V641V		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	641	cAMP.|Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		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)		TCAACGAGGTGCTGGAGGAGT	0.706													A	613949	G	A	613949	2	1	253	1	0	0	0	0	0	0	0	1	6997	1306	46	2		2	HCN2	19	613949	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	8828	613949	58515034	754	126352											
GRIN3B	116444	broad.mit.edu	37	chr19	1003296	1003296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagccgggctggccggccCccacagctggtcctggacct	13	17	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:1003296C>T	uc002lqo.1	+	2	594	c.594C>T	c.(592-594)CCC>CCT	p.P198P		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	198	Extracellular (Potential).				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				0		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)	CTGGCCGGCCCCCACAGCTGG	0.746													T	1003296	C	T	1003296	2	4	253	1	0	0	0	0	0	0	0	1	6784	610	22	4		4	GRIN3B	19	1003296	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	389347	1003296	58125687	755	126353											
CNN2	1265	broad.mit.edu	37	chr19	1036231	1036231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaaggctggccagtgcGtcatcgggctgcaggtgggc	17	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:1036231G>A	uc002lqu.2	+	5	856	c.493G>A	c.(493-495)GTC>ATC	p.V165I	CNN2_uc002lqt.1_Intron|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Intron|CNN2_uc010xgb.1_Missense_Mutation_p.V154I|CNN2_uc010xgc.1_Missense_Mutation_p.V186I	NM_004368	NP_004359	Q99439	CNN2_HUMAN	calponin 2 isoform a	165				V -> G (in Ref. 4; BAA20887).	actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding				0		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)		TGGCCAGTGCGTCATCGGGCT	0.642													A	1036231	G	A	1036231	3	1	253	1	0	0	0	0	1	0	0	0	3610	1145	40	1	511	1	CNN2	19	1036231	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	32935	1036231	58092752	756	126354											
PCSK4	54760	broad.mit.edu	37	chr19	1486876	1486876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggtcggtggccacgccGctgctgtaggtggtggtgag	21	8	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:1486876G>A	uc002ltb.1	-	8	1106	c.1044C>T	c.(1042-1044)AGC>AGT	p.S348S	PCSK4_uc002lsz.2_5'Flank|PCSK4_uc002lta.2_Silent_p.S160S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	348	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		TGGCCACGCCGCTGCTGTAGG	0.701													A	1486876	G	A	1486876	2	1	253	1	0	0	0	0	0	0	0	1	11602	1078	38	1		1	PCSK4	19	1486876	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	450645	1486876	57642107	757	126355											
MKNK2	2872	broad.mit.edu	37	chr19	2046391	2046391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgcccgagaagctgtcGgtggcccggccgcgcttctt	13	15	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:2046391G>A	uc002lus.2	-	4	461	c.216C>T	c.(214-216)ACC>ACT	p.T72T	MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Silent_p.T72T	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	72					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		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)		AGAAGCTGTCGGTGGCCCGGC	0.687													A	2046391	G	A	2046391	2	1	253	1	0	0	0	0	0	0	0	1	9605	1103	39	1		1	MKNK2	19	2046391	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	559515	2046391	57082592	758	126356											
GNA15	2769	broad.mit.edu	37	chr19	3151745	3151745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaccgaggagggctacGtccccacagctcaggacgtg	13	14	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:3151745G>A	uc002lxf.2	+	4	784	c.526G>A	c.(526-528)GTC>ATC	p.V176I		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	176					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			skin(2)	2		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)		GGAGGGCTACGTCCCCACAGC	0.632													A	3151745	G	A	3151745	3	1	253	1	0	0	0	0	1	0	0	0	6503	1145	40	1	540	1	GNA15	19	3151745	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1105354	3151745	55977238	759	126357											
ZFR2	23217	broad.mit.edu	37	chr19	3821382	3821382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctccagccgctcctcCgccaggtgccgctgcttcct	10	19	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:3821382C>T	uc002lyw.2	-	10	1599	c.1587G>A	c.(1585-1587)GCG>GCA	p.A529A	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	529	Potential.					intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCCGCTCCTCCGCCAGGTGCC	0.697													T	3821382	C	T	3821382	2	4	253	1	0	0	0	0	0	0	0	1	17657	639	23	1		1	ZFR2	19	3821382	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	669637	3821382	55307601	760	126358											
SH3GL1	6455	broad.mit.edu	37	chr19	4365576	4365576	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggggttcttcacctggccCcggatcttggacaccgtgtt	12	14	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:4365576C>A	uc002maj.2	-	4	340	c.234G>T	c.(232-234)CGG>CGT	p.R78R	SH3GL1_uc002mak.2_Silent_p.R78R|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	78	Required for dimerization upon membrane association (By similarity).|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCACCTGGCCCCGGATCTTGG	0.657			T	MLL	AL								A	4365576	C	A	4365576	2	1	253	1	0	0	0	0	0	0	0	1	14250	610	22	5		5	SH3GL1	19	4365576	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	544194	4365576	54763407	761	126359											
C19orf10	56005	broad.mit.edu	37	chr19	4658063	4658063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatcaccagcttggacAgctcagctttgaatgccccg	8	15	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:4658063A>C	uc002may.2	-	6	545	c.476T>G	c.(475-477)CTG>CGG	p.L159R		NM_019107	NP_061980	Q969H8	CS010_HUMAN	hypothetical protein LOC56005 precursor	159						ER-Golgi intermediate compartment|extracellular region					0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		CAGCTTGGACAGCTCAGCTTT	0.567													C	4658063	A	C	4658063	3	2	253	1	0	0	0	0	1	0	0	0	1908	188	7	5	49	5	C19orf10	19	4658063	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	292487	4658063	54470920	762	126360											
PTPRS	5802	broad.mit.edu	37	chr19	5212381	5212381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatggggccggcatctggcGggttgcaggtcttgactctc	16	11	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:5212381G>A	uc002mbv.2	-	31	4970	c.4736C>T	c.(4735-4737)CCG>CTG	p.P1579L	PTPRS_uc002mbu.1_Missense_Mutation_p.P1148L|PTPRS_uc010xin.1_Missense_Mutation_p.P1121L|PTPRS_uc002mbw.2_Missense_Mutation_p.P1541L|PTPRS_uc002mbx.2_Missense_Mutation_p.P1136L|PTPRS_uc002mby.2_Missense_Mutation_p.P1132L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1579	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCATCTGGCGGGTTGCAGGT	0.672													A	5212381	G	A	5212381	3	1	253	1	0	0	0	0	1	0	0	0	12811	1116	39	1	1142	1	PTPRS	19	5212381	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	554318	5212381	53916602	763	126361											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531811	7531811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcttcccaggtggaggCgccaggcacggaatccgatc	13	14	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:7531811C>T	uc002mgi.2	+	14	2601	c.2348C>T	c.(2347-2349)GCG>GTG	p.A783V	ARHGEF18_uc010xjm.1_Missense_Mutation_p.A625V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.A625V|ARHGEF18_uc002mgj.1_Missense_Mutation_p.A426V	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	783					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			ovary(1)	1		Renal(5;0.0902)				CAGGTGGAGGCGCCAGGCACG	0.587													T	7531811	C	T	7531811	3	4	253	1	0	0	0	0	1	0	0	0	901	768	27	1	2402	1	ARHGEF18	19	7531811	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2319430	7531811	51597172	764	126362											
FBN3	84467	broad.mit.edu	37	chr19	8203327	8203327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacacagctcagggacCgggccagctgcccagcacct	14	15	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:8203327C>T	uc002mjf.2	-	8	1008	c.987G>A	c.(985-987)CCG>CCA	p.P329P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	329	TB 2.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GCTCAGGGACCGGGCCAGCTG	0.682													T	8203327	C	T	8203327	2	4	253	1	0	0	0	0	0	0	0	1	5704	639	23	1		1	FBN3	19	8203327	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	671516	8203327	50925656	765	126363											
KEAP1	9817	broad.mit.edu	37	chr19	10610266	10610266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggaggacacacttctcGcccatggagatggaggccgt	14	11	1	1	rs11545828		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:10610266G>A	uc002moq.1	-	2	600	c.444C>T	c.(442-444)GGC>GGT	p.G148G	KEAP1_uc002mor.1_Silent_p.G148G	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	148	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CACACTTCTCGCCCATGGAGA	0.592													A	10610266	G	A	10610266	2	1	253	1	0	0	0	0	0	0	0	1	8141	1074	38	1		1	KEAP1	19	10610266	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2406939	10610266	48518717	766	126364											
RAB3D	9545	broad.mit.edu	37	chr19	11446214	11446214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccaggatgacctgggcGttgtcccaggagtaggtctt	13	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:11446214G>A	uc002mqy.2	-	4	619	c.381C>T	c.(379-381)AAC>AAT	p.N127N		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	127					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						TGACCTGGGCGTTGTCCCAGG	0.607													A	11446214	G	A	11446214	2	1	253	1	0	0	0	0	0	0	0	1	12934	1136	40	1		1	RAB3D	19	11446214	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	835948	11446214	47682769	767	126365											
PRKCSH	5589	broad.mit.edu	37	chr19	11552108	11552108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatggccgaggtcacccGcgaagggttccgtctgaaga	15	11	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:11552108G>A	uc002mrt.2	+	6	740	c.404G>A	c.(403-405)CGC>CAC	p.R135H	PRKCSH_uc002mru.2_Missense_Mutation_p.R135H|PRKCSH_uc010xlz.1_Missense_Mutation_p.R135H|PRKCSH_uc010dya.2_Missense_Mutation_p.A104T|PRKCSH_uc002mrv.1_Missense_Mutation_p.R135H|PRKCSH_uc010dyb.2_Missense_Mutation_p.R135H	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	135					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						GAGGTCACCCGCGAAGGGTTC	0.612													A	11552108	G	A	11552108	3	1	253	1	0	0	0	0	1	0	0	0	12516	1087	38	1	422	1	PRKCSH	19	11552108	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	105894	11552108	47576875	768	126366											
ZNF439	90594	broad.mit.edu	37	chr19	11978875	11978875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactttatgaatgtaagcagTgtgggaaagcattatcctct	9	6	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:11978875T>C	uc002mss.2	+	3	1119	c.991T>C	c.(991-993)TGT>CGT	p.C331R	ZNF439_uc002msr.2_Missense_Mutation_p.C195R	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	331	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ATGTAAGCAGTGTGGGAAAGC	0.378													C	11978875	T	C	11978875	3	2	253	1	0	0	0	0	1	0	0	0	17908	1696	59	3	1001	3	ZNF439	19	11978875	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	426767	11978875	47150108	769	126367											
BEST2	54831	broad.mit.edu	37	chr19	12864133	12864133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgatttattgtgaccAgtatgccagcctcatccctg	9	11	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:12864133A>G	uc002mux.2	+	2	212	c.212A>G	c.(211-213)CAG>CGG	p.Q71R		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	71	Helical; (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						TATTGTGACCAGTATGCCAGC	0.542													G	12864133	A	G	12864133	3	3	253	1	0	0	0	0	1	0	0	0	1405	188	7	3	218	3	BEST2	19	12864133	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	885258	12864133	46264850	770	126368											
MAST1	22983	broad.mit.edu	37	chr19	12969483	12969483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttcgccgagaacccGtttgtggtcggcatgttctg	11	13	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:12969483G>A	uc002mvm.2	+	12	1424	c.1296G>A	c.(1294-1296)CCG>CCA	p.P432P	MAST1_uc002mvk.2_Silent_p.P428P	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	432	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCGAGAACCCGTTTGTGGTCG	0.557													A	12969483	G	A	12969483	2	1	253	1	0	0	0	0	0	0	0	1	9324	1132	40	1		1	MAST1	19	12969483	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	105350	12969483	46159500	771	126369											
GCDH	2639	broad.mit.edu	37	chr19	13007752	13007752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcctgaacaacgcccGgtacggcatcgcgtggggcg	16	14	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:13007752G>A	uc002mvq.2	+	9	958	c.881G>A	c.(880-882)CGG>CAG	p.R294Q	GCDH_uc010xms.1_Missense_Mutation_p.R261Q|GCDH_uc002mvp.2_Missense_Mutation_p.R294Q|GCDH_uc010xmt.1_Missense_Mutation_p.R128Q|GCDH_uc010xmu.1_Missense_Mutation_p.R250Q	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	294	Substrate binding.		R -> W (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AACAACGCCCGGTACGGCATC	0.617													A	13007752	G	A	13007752	3	1	253	1	0	0	0	0	1	0	0	0	6287	1116	39	1	911	1	GCDH	19	13007752	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	38269	13007752	46121231	772	126370											
NANOS3	342977	broad.mit.edu	37	chr19	13988458	13988458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttctgcccacttactggCcagggctacacctccgtcta	8	17	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:13988458C>T	uc002mxj.3	+	1	509	c.396C>T	c.(394-396)GGC>GGT	p.G132G		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	113					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CACTTACTGGCCAGGGCTACA	0.662													T	13988458	C	T	13988458	2	4	253	1	0	0	0	0	0	0	0	1	10153	726	26	2		2	NANOS3	19	13988458	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	980706	13988458	45140525	773	126371											
SLC1A6	6511	broad.mit.edu	37	chr19	15083604	15083604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggtcatggtctgcaggCgcaggcgcgtgcgcagtgct	18	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15083604C>T	uc002naa.1	-	1	127	c.119G>A	c.(118-120)CGC>CAC	p.R40H	SLC1A6_uc010dzu.1_Missense_Mutation_p.R40H|SLC1A6_uc010xod.1_Silent_p.A44A|SLC1A6_uc002nab.2_Missense_Mutation_p.R40H|SLC1A6_uc002nac.2_Missense_Mutation_p.R40H|SLC1A6_uc002nad.1_Missense_Mutation_p.R40H	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	40	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	GGTCTGCAGGCGCAGGCGCGT	0.682													T	15083604	C	T	15083604	3	4	253	1	0	0	0	0	1	0	0	0	14436	768	27	1	1611	1	SLC1A6	19	15083604	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1095146	15083604	44045379	774	126372											
SYDE1	85360	broad.mit.edu	37	chr19	15224598	15224598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccagactacgaccacGtgacgggcagtgacagcgag	15	13	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15224598G>A	uc002nah.1	+	8	2063	c.2032G>A	c.(2032-2034)GTG>ATG	p.V678M	SYDE1_uc002nai.1_Missense_Mutation_p.V611M|SYDE1_uc002naj.1_Missense_Mutation_p.V335M	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	678					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CTACGACCACGTGACGGGCAG	0.672													A	15224598	G	A	15224598	3	1	253	1	0	0	0	0	1	0	0	0	15432	1145	40	1	2062	1	SYDE1	19	15224598	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	140994	15224598	43904385	775	126373											
EPHX3	79852	broad.mit.edu	37	chr19	15342858	15342858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctccgacggcgcccgcaGcagccgcgccggggccggca	17	19	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15342858G>A	uc002nap.2	-	1	374	c.165C>T	c.(163-165)TGC>TGT	p.C55C	EPHX3_uc002naq.2_Silent_p.C55C	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	55						extracellular region	hydrolase activity				0						GGCGCCCGCAGCAGCCGCGCC	0.716													A	15342858	G	A	15342858	2	1	253	1	0	0	0	0	0	0	0	1	5181	963	34	2		2	EPHX3	19	15342858	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	118260	15342858	43786125	776	126374											
BRD4	23476	broad.mit.edu	37	chr19	15354055	15354055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggaagggagtagcggcGtagggggctgcaccttctgc	17	10	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15354055G>A	uc002nar.2	-	14	3047	c.2825C>T	c.(2824-2826)ACG>ATG	p.T942M		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	942					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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GAGTAGCGGCGTAGGGGGCTG	0.398			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15354055	G	A	15354055	3	1	253	1	0	0	0	0	1	0	0	0	1504	1145	40	1	1291	1	BRD4	19	15354055	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	11197	15354055	43774928	777	126375											
CYP4F22	126410	broad.mit.edu	37	chr19	15651270	15651270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttggcaggaagatgagTgattatatctccgctatcat	9	9	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:15651270T>C	uc002nbh.3	+	8	848	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	227						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						GGAAGATGAGTGATTATATCT	0.542													C	15651270	T	C	15651270	2	2	253	1	0	0	0	0	0	0	0	1	4189	1693	59	3		3	CYP4F22	19	15651270	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	297215	15651270	43477713	778	126376											
TPM4	7171	broad.mit.edu	37	chr19	16192753	16192753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggccgccctcaaccgaCgcatccagctcgttgaggag	12	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:16192753C>T	uc002ndj.2	+	2	404	c.163C>T	c.(163-165)CGC>TGC	p.R55C	TPM4_uc002ndi.2_Missense_Mutation_p.R91C|TPM4_uc002ndk.1_Translation_Start_Site	NM_003290	NP_003281	P67936	TPM4_HUMAN	tropomyosin 4 isoform 2	55	By similarity.				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13						CCTCAACCGACGCATCCAGCT	0.607			T	ALK	ALCL								T	16192753	C	T	16192753	3	4	253	1	0	0	0	0	1	0	0	0	16405	536	19	1	417	1	TPM4	19	16192753	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	541483	16192753	42936230	779	126377											
SIN3B	23309	broad.mit.edu	37	chr19	16980691	16980691	+	Frame_Shift_Del	DEL	T	T	-													tggacgatgtctacagcctaTtttttgccaacaacaactgg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:16980690_16980690AT>A	uc002ney.2	+	13	2345	c.2322_2322AT>A	c.(2320-2322)ctafs	p.L774fs	SIN3B_uc002nez.2_Frame_Shift_Del_p.L742fs|SIN3B_uc010xpi.1_Frame_Shift_Del_p.L332fs	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	774					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						TCTACAGCCTATTTTTTGCCA	0.637													-	16980691	T	-	16980691	7	5	253	1	0	1	0	1	0	0	0	0	14326	1493	52	0	2377	0	SIN3B	19	16980691	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08	787938	16980691	42148292	780	126378											
MYO9B	4650	broad.mit.edu	37	chr19	17322818	17322818	+	Frame_Shift_Del	DEL	C	C	-													cgtaacggtcagagtgaagaCcccccggcggacccccatca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17322817_17322817AC>A	uc010eak.3	+	39	6324	c.6172_6172AC>A	c.(6172-6174)accfs	p.T2058fs	MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2058	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGAGTGAAGACCCCCCGGCG	0.736													-	17322818	C	-	17322818	7	5	253	1	0	1	0	1	0	0	0	0	10085	507	18	0	6338	0	MYO9B	19	17322818	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	342127	17322818	41806165	781	126379											
USE1	55850	broad.mit.edu	37	chr19	17330519	17330519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcgtctggagcagcacaCgcagaagtcagtcaactggc	13	11	3	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17330519C>T	uc002nfo.2	+	8	737	c.677C>T	c.(676-678)ACG>ATG	p.T226M	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	226	Cytoplasmic (Potential).|Potential.				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						GAGCAGCACACGCAGAAGTCA	0.507													T	17330519	C	T	17330519	3	4	253	1	0	0	0	0	1	0	0	0	17028	536	19	1	707	1	USE1	19	17330519	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	7701	17330519	41798464	782	126380											
USHBP1	83878	broad.mit.edu	37	chr19	17369181	17369181	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcagaaccctgtatgcctCttcacagtgttcactgtggg	10	11	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17369181C>T	uc002nfs.1	-	8	1173	c.1060G>A	c.(1060-1062)GAG>AAG	p.E354K	USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E290K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	354							PDZ domain binding			ovary(1)	1						CTGTATGCCTCTTCACAGTGT	0.438													T	17369181	C	T	17369181	3	4	253	1	0	0	0	0	1	0	0	0	17034	922	32	4	1075	4	USHBP1	19	17369181	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	38662	17369181	41759802	783	126381											
FAM129C	199786	broad.mit.edu	37	chr19	17643096	17643096	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgagtccgtgagcacCgaggacccctgacccagctt	11	17	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:17643096C>T	uc010xpr.1	+	4	442	c.304C>T	c.(304-306)CGA>TGA	p.R102*	FAM129C_uc010xpq.1_Nonsense_Mutation_p.R102*|FAM129C_uc010xps.1_Nonsense_Mutation_p.R71*|FAM129C_uc010xpt.1_RNA	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	102											0						CCGTGAGCACCGAGGACCCCT	0.672													T	17643096	C	T	17643096	4	4	253	1	0	0	0	0	0	1	0	0	5438	644	23	1	318	1	FAM129C	19	17643096	Nonsense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	273915	17643096	41485887	784	126382											
TMEM59L	25789	broad.mit.edu	37	chr19	18726894	18726894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtctcctccacctggaCatactacttgcagactgaca	6	13	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:18726894C>T	uc002njy.3	+	4	605	c.518C>T	c.(517-519)ACA>ATA	p.T173I	TMEM59L_uc010ebu.1_Missense_Mutation_p.T173I	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	173						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TCCACCTGGACATACTACTTG	0.562													T	18726894	C	T	18726894	3	4	253	1	0	0	0	0	1	0	0	0	16183	478	17	4	532	4	TMEM59L	19	18726894	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1083798	18726894	40402089	785	126383											
KLHL26	55295	broad.mit.edu	37	chr19	18779982	18779982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacgagtgggagcgggaccTgcacttcccggagtccttcg	15	13	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:18779982T>C	uc002njz.1	+	3	1802	c.1775T>C	c.(1774-1776)CTG>CCG	p.L592P		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	592	Kelch 6.									ovary(1)	1						GAGCGGGACCTGCACTTCCCG	0.662													C	18779982	T	C	18779982	3	2	253	1	0	0	0	0	1	0	0	0	8381	1580	55	3	1785	3	KLHL26	19	18779982	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	53088	18779982	40349001	786	126384											
ATP13A1	57130	broad.mit.edu	37	chr19	19764812	19764812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgggggcccccttcacgGccgcgatgtagcagaggtcg	15	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:19764812G>A	uc002nnh.3	-	14	1983	c.1955C>T	c.(1954-1956)GCC>GTC	p.A652V	ATP13A1_uc002nne.2_5'Flank|ATP13A1_uc002nnf.3_Missense_Mutation_p.A20V|ATP13A1_uc002nng.2_Missense_Mutation_p.A534V	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	652	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CCCCTTCACGGCCGCGATGTA	0.632													A	19764812	G	A	19764812	3	1	253	1	0	0	0	0	1	0	0	0	1123	1203	42	2	1711	2	ATP13A1	19	19764812	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	984830	19764812	39364171	787	126385											
ZNF254	9534	broad.mit.edu	37	chr19	24310333	24310333	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccttactacacataagataAttcatactggagagaaaccc	5	11	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:24310333A>T	uc002nru.2	+	4	1665	c.1531A>T	c.(1531-1533)ATT>TTT	p.I511F	ZNF254_uc010xrk.1_Missense_Mutation_p.I426F	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	511	C2H2-type 11.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACATAAGATAATTCATACTGG	0.373													T	24310333	A	T	24310333	3	4	253	1	0	0	0	0	1	0	0	0	17795	101	4	5	1545	5	ZNF254	19	24310333	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	4545521	24310333	34818650	788	126386											
PLEKHF1	79156	broad.mit.edu	37	chr19	30165483	30165483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagcgtccagtggagatgAcgatgactccgacgaggaca	15	10	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:30165483A>G	uc002nsh.3	+	2	839	c.737A>G	c.(736-738)GAC>GGC	p.D246G	PLEKHF1_uc002nsi.3_Missense_Mutation_p.D331G	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	246					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	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)			AGTGGAGATGACGATGACTCC	0.716													G	30165483	A	G	30165483	3	3	253	1	0	0	0	0	1	0	0	0	12066	275	10	3	739	3	PLEKHF1	19	30165483	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	5855150	30165483	28963500	789	126387											
C19orf2	8725	broad.mit.edu	37	chr19	30496293	30496293	+	Frame_Shift_Del	DEL	A	A	-													agaaaaacaatagatgacttAaaaaaagtgatgaaaaattt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:30496293delA	uc002nsr.2	+	5	423	c.393delA	c.(391-393)TTAfs	p.L131fs	C19orf2_uc002nsq.2_Frame_Shift_Del_p.L113fs|C19orf2_uc002nss.2_Frame_Shift_Del_p.L91fs|C19orf2_uc002nst.2_Frame_Shift_Del_p.L55fs	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	131					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		TAGATGACTTAAAAAAAGTGA	0.299													-	30496293	A	-	30496293	7	5	253	1	0	1	0	1	0	0	0	0	1911	359	13	0	411	0	C19orf2	19	30496293	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	330810	30496293	28632690	790	126388											
ZNF536	9745	broad.mit.edu	37	chr19	31040129	31040129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccctcagcaaagacagCagcagcgatggcggggacag	14	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:31040129C>T	uc002nsu.1	+	4	3741	c.3603C>T	c.(3601-3603)AGC>AGT	p.S1201S	ZNF536_uc010edd.1_Silent_p.S1201S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAAAGACAGCAGCAGCGATG	0.587													T	31040129	C	T	31040129	2	4	253	1	0	0	0	0	0	0	0	1	17971	709	25	2		2	ZNF536	19	31040129	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	543836	31040129	28088854	791	126389											
WDR88	126248	broad.mit.edu	37	chr19	33623132	33623132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagggaatgcaagttgccGccaccctccgcccccgccag	11	18	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:33623132G>A	uc002nui.2	+	1	135	c.57G>A	c.(55-57)CCG>CCA	p.P19P		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	19										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					GCAAGTTGCCGCCACCCTCCG	0.701													A	33623132	G	A	33623132	2	1	253	1	0	0	0	0	0	0	0	1	17332	1074	38	1		1	WDR88	19	33623132	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2583003	33623132	25505851	792	126390											
USF2	7392	broad.mit.edu	37	chr19	35761684	35761685	+	Frame_Shift_Ins	INS	-	-	C													ggaacacagaggacgatcgcINScccccggacacacccttact							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:35761683_35761684G>GC	uc010xss.1	+	5	752_753	c.643_644G>GC	c.(643-645)gccfs	p.A215fs	USF2_uc002nyq.1_Frame_Shift_Ins_p.A215fs|USF2_uc002nyr.1_Frame_Shift_Ins_p.A148fs|USF2_uc002nyt.1_Frame_Shift_Ins_p.A84fs|USF2_uc002nyv.1_Frame_Shift_Ins_p.A17fs			Q15853	USF2_HUMAN	Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA.	215					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A215S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGGACGATCGCCCCCCGGACA	0.594													C	35761685	-	C	35761684	7	5	253	1	0	1	1	0	0	0	0	0	17030	739	26	0	666	0	USF2	19	35761684	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	2138552	35761684	23367299	793	126391											
ARHGAP33	115703	broad.mit.edu	37	chr19	36276311	36276311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctctccctctcctgcagGcagcagacccgacaccgtca	7	19	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:36276311G>T	uc002obr.1	+	19	1953	c.1868G>T	c.(1867-1869)GGC>GTC	p.G623V	ARHGAP33_uc002obs.1_Missense_Mutation_p.G623V|ARHGAP33_uc002obt.1_Missense_Mutation_p.G487V|ARHGAP33_uc010eel.2_Missense_Mutation_p.G211V|ARHGAP33_uc002obv.1_Missense_Mutation_p.G211V	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	623					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TCTCCTGCAGGCAGCAGACCC	0.667													T	36276311	G	T	36276311	3	4	253	1	0	0	0	0	1	0	0	0	882	1217	42	5	1942	5	ARHGAP33	19	36276311	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	514627	36276311	22852672	794	126392											
CLIP3	25999	broad.mit.edu	37	chr19	36517493	36517493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcctcctcacctcgcGgcctcgcacccttcagcagc	8	21	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:36517493G>A	uc010eeq.1	-	4	839	c.557C>T	c.(556-558)CCG>CTG	p.P186L	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.P186L	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	186	ANK 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			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCACCTCGCGGCCTCGCACC	0.672													A	36517493	G	A	36517493	3	1	253	1	0	0	0	0	1	0	0	0	3534	1116	39	1	1126	1	CLIP3	19	36517493	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	241182	36517493	22611490	795	126393											
ZNF585B	92285	broad.mit.edu	37	chr19	37678131	37678131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctatgttgattatggTcccataatttctctcctgtt	5	8	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:37678131T>C	uc002ofq.2	-	5	562	c.308A>G	c.(307-309)GAC>GGC	p.D103G	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGATTATGGTCCCATAATTT	0.338													C	37678131	T	C	37678131	3	2	253	1	0	0	0	0	1	0	0	0	18015	1667	58	3	2005	3	ZNF585B	19	37678131	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1160638	37678131	21450852	796	126394											
EIF3K	27335	broad.mit.edu	37	chr19	39116703	39116703	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccgacagattttgtacctCggggacctgctggagacctg	12	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39116703C>T	uc002oiz.1	+	4	502	c.315C>T	c.(313-315)CTC>CTT	p.L105L	EIF3K_uc010xuh.1_Silent_p.L105L|EIF3K_uc010xui.1_Silent_p.L18L	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3,	105					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTTTGTACCTCGGGGACCTGC	0.582													T	39116703	C	T	39116703	2	4	253	1	0	0	0	0	0	0	0	1	5021	871	31	1		1	EIF3K	19	39116703	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1438572	39116703	20012280	797	126395											
ACTN4	81	broad.mit.edu	37	chr19	39207831	39207831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacttccgcgactaccggCgtgtgcacaagccgcccaag	12	15	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39207831C>T	uc002oja.1	+	10	1077	c.1018C>T	c.(1018-1020)CGT>TGT	p.R340C	ACTN4_uc010egc.1_Missense_Mutation_p.R340C	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	340	Spectrin 1.				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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGACTACCGGCGTGTGCACAA	0.622													T	39207831	C	T	39207831	3	4	253	1	0	0	0	0	1	0	0	0	207	768	27	1	1056	1	ACTN4	19	39207831	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	91128	39207831	19921152	798	126396											
FBXO27	126433	broad.mit.edu	37	chr19	39517602	39517602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggcgtctagaagttggaCgaggagtctgtacatacagc	14	7	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39517602C>T	uc002okh.2	-	5	698	c.616G>A	c.(616-618)GTC>ATC	p.V206I		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	206	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	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)			AGAAGTTGGACGAGGAGTCTG	0.557													T	39517602	C	T	39517602	3	4	253	1	0	0	0	0	1	0	0	0	5737	536	19	1	243	1	FBXO27	19	39517602	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	309771	39517602	19611381	799	126397											
GMFG	9535	broad.mit.edu	37	chr19	39823749	39823751	+	In_Frame_Del	DEL	CTC	CTC	-													tccggcaactccattttgagCtcctctggggaaatgttctg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:39823748_39823750GCTC>G	uc002okz.4	-	3	277_279	c.167_169GAGC>C	c.(166-171)gagctc>gCtc	p.56_57EL>A	GMFG_uc002okx.4_In_Frame_Del_p.56_57EL>A	NM_004877	NP_004868	O60234	GMFG_HUMAN	Homo sapiens glia maturation factor, gamma (GMFG), mRNA.	56	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	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;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCCATTTTGAGCTCCTCTGGGGA	0.537													-	39823751	CTC	-	39823749	7	5	253	1	0	1	0	1	0	0	0	0	6490	796	28	0	276	0	GMFG	19	39823749	In_Frame_Del	DEL	CTC	TCGA-HJ-7597-01A-21D-2201-08	306147	39823749	19305234	800	126398											
FCGBP	8857	broad.mit.edu	37	chr19	40368737	40368737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatagctgctggggagcGtcacgtctacccgccagttc	12	13	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:40368737G>A	uc002omp.3	-	28	12619	c.12611C>T	c.(12610-12612)ACG>ATG	p.T4204M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4204	VWFD 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			GCTGGGGAGCGTCACGTCTAC	0.602													A	40368737	G	A	40368737	3	1	253	1	0	0	0	0	1	0	0	0	5778	1145	40	1	3642	1	FCGBP	19	40368737	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	544988	40368737	18760246	801	126399											
LTBP4	8425	broad.mit.edu	37	chr19	41132959	41132959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctttggactcccctaCgagtacggcccagacttagg	13	12	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:41132959C>T	uc002ooh.1	+	32	4266	c.4266C>T	c.(4264-4266)TAC>TAT	p.Y1422Y	LTBP4_uc002oog.1_Silent_p.Y1385Y|LTBP4_uc002ooi.1_Silent_p.Y1355Y|LTBP4_uc002ooj.1_Silent_p.Y295Y|LTBP4_uc002ook.1_Silent_p.Y556Y|LTBP4_uc002ool.1_Silent_p.Y434Y|LTBP4_uc010xvp.1_Silent_p.Y182Y	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1422	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)			GACTCCCCTACGAGTACGGCC	0.632													T	41132959	C	T	41132959	2	4	253	1	0	0	0	0	0	0	0	1	9076	547	19	1		1	LTBP4	19	41132959	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	764222	41132959	17996024	802	126400											
CYP2B6	1555	broad.mit.edu	37	chr19	41509957	41509957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacctgggaccgaggcccGtggtcatgctgtgtggagta	15	10	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:41509957G>A	uc002opr.1	+	2	230	c.223G>A	c.(223-225)GTG>ATG	p.V75M	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.V35M	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	75					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			ovary(1)|skin(1)	2			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)	ACCGAGGCCCGTGGTCATGCT	0.532													A	41509957	G	A	41509957	3	1	253	1	0	0	0	0	1	0	0	0	4164	1145	40	1	229	1	CYP2B6	19	41509957	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	376998	41509957	17619026	803	126401											
BCKDHA	593	broad.mit.edu	37	chr19	41928113	41928113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgggccaatgccaacaggGtcgtcatctgttacttcggc	12	12	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:41928113G>A	uc002oqq.2	+	6	720	c.691G>A	c.(691-693)GTC>ATC	p.V231I	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.V265I|BCKDHA_uc002oqp.1_Missense_Mutation_p.V123I|BCKDHA_uc002oqr.2_Missense_Mutation_p.V231I|BCKDHA_uc010xvz.1_Missense_Mutation_p.V209I	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	231					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				0						TGCCAACAGGGTCGTCATCTG	0.637													A	41928113	G	A	41928113	3	1	253	1	0	0	0	0	1	0	0	0	1359	1261	44	4	713	4	BCKDHA	19	41928113	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	418156	41928113	17200870	804	126402											
CEACAM7	1087	broad.mit.edu	37	chr19	42187807	42187807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtcattctttgtggcGctgagtagaacgagggtcct	12	9	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42187807G>A	uc002ori.1	-	3	617	c.615C>T	c.(613-615)AGC>AGT	p.S205S	CEACAM7_uc010ehx.2_Silent_p.S205S|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	205	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTTTGTGGCGCTGAGTAGAA	0.537													A	42187807	G	A	42187807	2	1	253	1	0	0	0	0	0	0	0	1	3197	1078	38	1		1	CEACAM7	19	42187807	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	259694	42187807	16941176	805	126403											
CEACAM5	1048	broad.mit.edu	37	chr19	42224051	42224051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgtcacaagaaatgaCgcaagagcctatgtatgtgg	10	7	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42224051C>T	uc002ork.2	+	7	1816	c.1695C>T	c.(1693-1695)GAC>GAT	p.D565D	CEACAM5_uc002orj.1_Silent_p.D564D|CEACAM5_uc002orl.2_Silent_p.D565D	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	565	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAAGAAATGACGCAAGAGCCT	0.517													T	42224051	C	T	42224051	2	4	253	1	0	0	0	0	0	0	0	1	3195	535	19	1		1	CEACAM5	19	42224051	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	36244	42224051	16904932	806	126404											
LYPD4	147719	broad.mit.edu	37	chr19	42343292	42343292	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagccccacaggacataCgaggcagagtggagatggcc	13	12	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42343292C>T	uc002orp.1	-	2	1051	c.67_splice	c.e2+1	p.R23_splice	LYPD4_uc002orq.1_Missense_Mutation_p.R23H	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4 precursor							anchored to membrane|plasma membrane				ovary(1)	1						ACAGGACATACGAGGCAGAGT	0.577													T	42343292	C	T	42343292	5	4	253	1	0	0	0	0	0	0	1	0	9112	550	19	1	688	1	LYPD4	19	42343292	Splice_Site	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	119241	42343292	16785691	807	126405											
GRIK5	2901	broad.mit.edu	37	chr19	42509992	42509992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagcaggaaggcgtagcGggagttgaggacgcgggcaa	19	8	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42509992G>A	uc002osj.1	-	16	2181	c.2146C>T	c.(2146-2148)CGC>TGC	p.R716C	GRIK5_uc002osi.1_Missense_Mutation_p.R288C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	716	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AAGGCGTAGCGGGAGTTGAGG	0.597													A	42509992	G	A	42509992	3	1	253	1	0	0	0	0	1	0	0	0	6777	1116	39	1	812	1	GRIK5	19	42509992	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	166700	42509992	16618991	808	126406											
CIC	23152	broad.mit.edu	37	chr19	42791309	42791309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaatctggtaagggtccGcctcccaccacggaggagga	15	11	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42791309G>A	uc002otf.1	+	3	409	c.369G>A	c.(367-369)CCG>CCA	p.P123P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	123	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTAAGGGTCCGCCTCCCACCA	0.677			T	DUX4	soft tissue sarcoma								A	42791309	G	A	42791309	2	1	253	1	0	0	0	0	0	0	0	1	3424	1074	38	1		1	CIC	19	42791309	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	281317	42791309	16337674	809	126407											
CIC	23152	broad.mit.edu	37	chr19	42795157	42795157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccccacacttggtggCtggacccctgctgggcactg	12	16	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:42795157C>T	uc002otf.1	+	10	2277	c.2237C>T	c.(2236-2238)GCT>GTT	p.A746V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	746	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CACTTGGTGGCTGGACCCCTG	0.672			T	DUX4	soft tissue sarcoma								T	42795157	C	T	42795157	3	4	253	1	0	0	0	0	1	0	0	0	3424	797	28	2	2275	2	CIC	19	42795157	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3848	42795157	16333826	810	126408											
CEACAM1	634	broad.mit.edu	37	chr19	43026288	43026288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggttcacaggtgaagGccacagcatccttgtcctcc	9	14	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:43026288G>A	uc002otv.2	-	3	604	c.491C>T	c.(490-492)GCC>GTC	p.A164V	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.A164V|CEACAM1_uc010eij.2_Missense_Mutation_p.A164V|CEACAM1_uc002otx.2_Missense_Mutation_p.A164V|CEACAM1_uc002oty.2_Missense_Mutation_p.A164V|CEACAM1_uc002otz.2_Missense_Mutation_p.A164V|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.A164V|CEACAM1_uc002oub.2_Missense_Mutation_p.A164V|CEACAM1_uc002ouc.2_Missense_Mutation_p.A164V	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	164	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACAGGTGAAGGCCACAGCATC	0.552													A	43026288	G	A	43026288	3	1	253	1	0	0	0	0	1	0	0	0	3187	1203	42	2	1214	2	CEACAM1	19	43026288	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	231131	43026288	16102695	811	126409											
CEACAM8	1088	broad.mit.edu	37	chr19	43098935	43098935	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgagcaggagcccctGccaggggatgcgccatctgc	14	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:43098935G>A	uc002oud.2	-	1	148	c.46C>T	c.(46-48)CAG>TAG	p.Q16*	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	16					immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				AGGAGCCCCTGCCAGGGGATG	0.627													A	43098935	G	A	43098935	4	1	253	1	0	0	0	0	0	1	0	0	3198	1328	46	2	1023	2	CEACAM8	19	43098935	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	72647	43098935	16030048	812	126410											
ZNF180	7733	broad.mit.edu	37	chr19	44980971	44980971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactgattacattcatacGgtttttccccagtgtgaatt	6	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:44980971G>A	uc002ozf.3	-	5	2009	c.1727C>T	c.(1726-1728)CCG>CTG	p.P576L	ZNF180_uc002ozh.3_Missense_Mutation_p.P233L|ZNF180_uc002ozi.3_Missense_Mutation_p.P549L|ZNF180_uc002ozg.3_Missense_Mutation_p.P575L|ZNF180_uc010ejm.2_Missense_Mutation_p.P551L	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P576L(1)		ovary(2)	2		Prostate(69;0.0435)				ACATTCATACGGTTTTTCCCC	0.408													A	44980971	G	A	44980971	3	1	253	1	0	0	0	0	1	0	0	0	17745	1116	39	1	355	1	ZNF180	19	44980971	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1882036	44980971	14148012	813	126411											
QPCTL	54814	broad.mit.edu	37	chr19	46206170	46206170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacttcaggggtacccGtgctccatctcatctccacg	8	16	4	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46206170G>A	uc010xxr.1	+	7	1233	c.1012G>A	c.(1012-1014)GTG>ATG	p.V338M	QPCTL_uc010ekn.2_Missense_Mutation_p.V244M	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	338					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			skin(1)	1		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)		AGGGGTACCCGTGCTCCATCT	0.602													A	46206170	G	A	46206170	3	1	253	1	0	0	0	0	1	0	0	0	12875	1145	40	1	1038	1	QPCTL	19	46206170	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1225199	46206170	12922813	814	126412											
DMPK	1760	broad.mit.edu	37	chr19	46280705	46280705	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccggagaccatcccagtcGaggccaaagaagaagggatg	13	11	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46280705G>A	uc002pdd.1	-	7	1600	c.1056C>T	c.(1054-1056)CTC>CTT	p.L352L	DMPK_uc010xxs.1_Silent_p.L253L|DMPK_uc002pde.1_Silent_p.L352L|DMPK_uc002pdf.1_Silent_p.L342L|DMPK_uc002pdg.1_Silent_p.L342L|DMPK_uc002pdh.1_Silent_p.L342L|DMPK_uc002pdi.1_Silent_p.L368L|DMPK_uc010xxt.1_Silent_p.L342L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	352	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATCCCAGTCGAGGCCAAAGA	0.622													A	46280705	G	A	46280705	2	1	253	1	0	0	0	0	0	0	0	1	4584	1045	37	1		1	DMPK	19	46280705	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	74535	46280705	12848278	815	126413											
DMWD	1762	broad.mit.edu	37	chr19	46289222	46289222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgtgccaggctctgccGccacacccgggccgcccgcc	13	19	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46289222G>A	uc002pdj.1	-	3	1578	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	DMWD_uc002pdk.1_Missense_Mutation_p.A511V|DMWD_uc010eko.1_Missense_Mutation_p.A196V	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	511					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGGCTCTGCCGCCACACCCGG	0.726													A	46289222	G	A	46289222	3	1	253	1	0	0	0	0	1	0	0	0	4593	1087	38	1	504	1	DMWD	19	46289222	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	8517	46289222	12839761	816	126414											
IGFL2	147920	broad.mit.edu	37	chr19	46663963	46663963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgctgttacaatgacGccatcgtgtccctgagcgag	12	11	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:46663963G>A	uc010xxv.1	+	3	202	c.166G>A	c.(166-168)GCC>ACC	p.A56T	IGFL2_uc002peb.2_Missense_Mutation_p.A67T	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform b	56						extracellular region	protein binding				0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TTACAATGACGCCATCGTGTC	0.592													A	46663963	G	A	46663963	3	1	253	1	0	0	0	0	1	0	0	0	7587	1087	38	1	232	1	IGFL2	19	46663963	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	374741	46663963	12465020	817	126415											
STRN4	29888	broad.mit.edu	37	chr19	47225520	47225520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgattgtccaggaagcGgatgcccctgtcgtcgtggg	15	11	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:47225520G>A	uc002pfl.2	-	15	2017	c.1984C>T	c.(1984-1986)CGC>TGC	p.R662C	STRN4_uc002pfm.2_Missense_Mutation_p.R669C|STRN4_uc010xyf.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	662	WD 5.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		TCCAGGAAGCGGATGCCCCTG	0.607													A	47225520	G	A	47225520	3	1	253	1	0	0	0	0	1	0	0	0	15330	1116	39	1	289	1	STRN4	19	47225520	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	561557	47225520	11903463	818	126416											
SYNGR4	23546	broad.mit.edu	37	chr19	48876813	48876813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctccctgctgaccgacGgctaccagaacaagatggag	10	14	1	3	rs139662043		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:48876813G>A	uc002piz.2	+	3	378	c.133G>A	c.(133-135)GGC>AGC	p.G45S		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	45	MARVEL.|Helical; (Potential).					integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GCTGACCGACGGCTACCAGAA	0.592													A	48876813	G	A	48876813	3	1	253	1	0	0	0	0	1	0	0	0	15448	1116	39	1	139	1	SYNGR4	19	48876813	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1651293	48876813	10252170	819	126417											
LMTK3	114783	broad.mit.edu	37	chr19	49012113	49012113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaccctcagtacctgtaCggctgtgcttccgagatgaa	10	11	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:49012113C>T	uc002pjk.2	-	6	639	c.639G>A	c.(637-639)CCG>CCA	p.P213P		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGTACCTGTACGGCTGTGCTT	0.463													T	49012113	C	T	49012113	2	4	253	1	0	0	0	0	0	0	0	1	8860	523	19	1		1	LMTK3	19	49012113	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	135300	49012113	10116870	820	126418											
HSD17B14	51171	broad.mit.edu	37	chr19	49316486	49316486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgactggccttgcacccGtaccccagctctgcaccccc	7	22	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:49316486G>A	uc002pkv.1	-	9	1025	c.759C>T	c.(757-759)TAC>TAT	p.Y253Y	BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_3'UTR	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	dehydrogenase/reductase (SDR family) member 10	253					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity				0		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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCTTGCACCCGTACCCCAGCT	0.642													A	49316486	G	A	49316486	2	1	253	1	0	0	0	0	0	0	0	1	7383	1140	40	1		1	HSD17B14	19	49316486	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	304373	49316486	9812497	821	126419											
TULP2	7288	broad.mit.edu	37	chr19	49391390	49391390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggattgccaaggaggcttcGtgcctcatatggtcgctgtc	13	11	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:49391390G>A	uc002pkz.2	-	8	916	c.765C>T	c.(763-765)CAC>CAT	p.H255H		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	255					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGGAGGCTTCGTGCCTCATAT	0.627													A	49391390	G	A	49391390	2	1	253	1	0	0	0	0	0	0	0	1	16771	1136	40	1		1	TULP2	19	49391390	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	74904	49391390	9737593	822	126420											
PRR12	57479	broad.mit.edu	37	chr19	50105065	50105065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaaaaagcaggagacgGcggcagtgtgtggggagacg	19	7	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50105065G>A	uc002poo.3	+	6	4663	c.4663G>A	c.(4663-4665)GCG>ACG	p.A1555T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	734							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCAGGAGACGGCGGCAGTGTG	0.692													A	50105065	G	A	50105065	3	1	253	1	0	0	0	0	1	0	0	0	12584	1203	42	2	4685	2	PRR12	19	50105065	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	713675	50105065	9023918	823	126421											
SCAF1	58506	broad.mit.edu	37	chr19	50155694	50155694	+	Frame_Shift_Del	DEL	G	G	-													tgaccgcgacagccgccgccGgggggccgtgccaccctcca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50155694delG	uc002poq.2	+	7	2172	c.2048delG	c.(2047-2049)CGGfs	p.R683fs		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	683	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		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)		AGCCGCCGCCGGGGGGCCGTG	0.602													-	50155694	G	-	50155694	7	5	253	1	0	1	0	1	0	0	0	0	13868	1116	39	0	2070	0	SCAF1	19	50155694	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	50629	50155694	8973289	824	126422											
SCAF1	58506	broad.mit.edu	37	chr19	50156708	50156708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggggtccgaggtggggCggaggaggaggaggaggaag	26	4	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50156708C>T	uc002poq.2	+	7	3186	c.3062C>T	c.(3061-3063)GCG>GTG	p.A1021V		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1021	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		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)		CGAGGTGGGGCggaggaggag	0.498													T	50156708	C	T	50156708	3	4	253	1	0	0	0	0	1	0	0	0	13868	768	27	1	3084	1	SCAF1	19	50156708	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1014	50156708	8972275	825	126423											
IRF3	3661	broad.mit.edu	37	chr19	50165476	50165476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactggccatccaggcagCgtcctgtctcccacttcgga	11	15	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50165476C>T	uc010end.1	-	6	1093	c.711G>A	c.(709-711)ACG>ACA	p.T237T	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Silent_p.T237T|IRF3_uc002poy.1_Silent_p.T237T|IRF3_uc002pou.2_Silent_p.T237T|IRF3_uc002pov.2_Silent_p.T91T|IRF3_uc002pow.2_Silent_p.T237T|IRF3_uc002poz.1_Silent_p.T237T|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	237	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			ovary(2)	2		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)		ATCCAGGCAGCGTCCTGTCTC	0.652													T	50165476	C	T	50165476	2	4	253	1	0	0	0	0	0	0	0	1	7831	755	27	1		1	IRF3	19	50165476	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	8768	50165476	8963507	826	126424											
POLD1	5424	broad.mit.edu	37	chr19	50916998	50916998	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacatccccaccgcccgcaGgtggtgtatggtgacactga	11	14	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:50916998G>T	uc002psb.3	+	19	2307	c.2251_splice	c.e19-1	p.V751_splice	POLD1_uc002psc.3_Splice_Site_p.V751_splice|POLD1_uc010enx.2_Splice_Site|POLD1_uc010eny.2_Splice_Site_p.V777_splice	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1						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			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCGCCCGCAGGTGGTGTATG	0.642								DNA_polymerases_(catalytic_subunits)					T	50916998	G	T	50916998	5	4	253	1	0	0	0	0	0	0	1	0	12190	1014	35	5	2320	5	POLD1	19	50916998	Splice_Site	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	751522	50916998	8211985	827	126425											
FPR1	2357	broad.mit.edu	37	chr19	52249833	52249833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttcttggccaggctcaCggtgcggtggttctgggtcc	14	13	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:52249833C>T	uc002pxq.2	-	2	510	c.415G>A	c.(415-417)GTG>ATG	p.V139M		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	139	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCCAGGCTCACGGTGCGGTGG	0.552													T	52249833	C	T	52249833	3	4	253	1	0	0	0	0	1	0	0	0	6038	536	19	1	641	1	FPR1	19	52249833	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1332835	52249833	6879150	828	126426											
MYADM	91663	broad.mit.edu	37	chr19	54377407	54377407	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctggagtggtgcgtggcGgtgtacgccatctgcttcat	15	11	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54377407G>T	uc002qcl.2	+	3	772	c.624G>T	c.(622-624)GCG>GCT	p.A208A	MYADM_uc002qcm.2_Silent_p.A208A|MYADM_uc002qcn.2_Silent_p.A208A|MYADM_uc002qco.2_Silent_p.A208A|MYADM_uc002qcp.2_Silent_p.A208A	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	208	MARVEL 2.|Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGTGCGTGGCGGTGTACGCCA	0.622													T	54377407	G	T	54377407	2	4	253	1	0	0	0	0	0	0	0	1	10006	1103	39	5		5	MYADM	19	54377407	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2127574	54377407	4751576	829	126427											
PRKCG	5582	broad.mit.edu	37	chr19	54395051	54395051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccgaacggtgaaagccaCgctaaaccctgtgtggaatg	12	11	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54395051C>T	uc002qcq.1	+	6	935	c.653C>T	c.(652-654)ACG>ATG	p.T218M	PRKCG_uc010eqz.1_Missense_Mutation_p.T218M|PRKCG_uc010yef.1_Missense_Mutation_p.T218M|PRKCG_uc010yeg.1_Missense_Mutation_p.T218M|PRKCG_uc010yeh.1_Missense_Mutation_p.T105M	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	218	C2.				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			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	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)		GTGAAAGCCACGCTAAACCCT	0.537													T	54395051	C	T	54395051	3	4	253	1	0	0	0	0	1	0	0	0	12512	536	19	1	675	1	PRKCG	19	54395051	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	17644	54395051	4733932	830	126428											
LILRB2	10288	broad.mit.edu	37	chr19	54783647	54783647	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctgagtgtcctctcaccTgtcatcaccagcaccagggg	9	16	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54783647T>G	uc002qfb.2	-	4	620	c.354A>C	c.(352-354)ACA>ACC	p.T118T	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.T118T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.T118T|LILRB2_uc010yet.1_Silent_p.T2T|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	118	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTCTCACCTGTCATCACCA	0.617													G	54783647	T	G	54783647	2	3	253	1	0	0	0	0	0	0	0	1	8791	1594	55	5		5	LILRB2	19	54783647	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	388596	54783647	4345336	831	126429											
LILRA4	23547	broad.mit.edu	37	chr19	54844919	54844919	+	Frame_Shift_Del	DEL	G	G	-													ttgcctcctggctgcaccttGgggggcttctctggctgtgc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:54844918_54844918TG>T	uc002qfj.3	-	7	1482	c.1425_1425CA>A	c.(1423-1425)ccafs	p.P475fs	LILRA4_uc002qfi.3_Frame_Shift_Del_p.P409fs	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	475						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)		GGCTGCACCTTGGGGGGCTTC	0.547													-	54844919	G	-	54844919	7	5	253	1	0	1	0	1	0	0	0	0	8787	1348	47	0	79	0	LILRA4	19	54844919	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	61272	54844919	4284064	832	126430											
NLRP7	199713	broad.mit.edu	37	chr19	55449463	55449463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacgtggtcacaaagaatcCgcacagaagagtcactcagg	10	10	3	3	rs104895502		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:55449463C>T	uc002qih.3	-	5	2154	c.2078G>A	c.(2077-2079)CGG>CAG	p.R693Q	NLRP7_uc002qig.3_Missense_Mutation_p.R665Q|NLRP7_uc002qii.3_Missense_Mutation_p.R693Q|NLRP7_uc010esk.2_Missense_Mutation_p.R693Q|NLRP7_uc010esl.2_Missense_Mutation_p.R721Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	693	LRR 2.		R -> W (in HYDM).|R -> P (in HYDM).|R -> Q (in HYDM).				ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		ACAAAGAATCCGCACAGAAGA	0.468													T	55449463	C	T	55449463	3	4	253	1	0	0	0	0	1	0	0	0	10482	652	23	1	1063	1	NLRP7	19	55449463	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	604544	55449463	3679520	833	126431											
NLRP11	204801	broad.mit.edu	37	chr19	56321602	56321602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtatgtagaacacatctgacGaaacgtcacgaaaaaattta	7	7	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:56321602G>A	uc010ygf.1	-	5	1085	c.374C>T	c.(373-375)TCG>TTG	p.S125L	NLRP11_uc002qlz.2_Missense_Mutation_p.S26L|NLRP11_uc002qmb.2_Missense_Mutation_p.S26L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	125							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACATCTGACGAAACGTCACG	0.383													A	56321602	G	A	56321602	3	1	253	1	0	0	0	0	1	0	0	0	10473	1059	37	1	2759	1	NLRP11	19	56321602	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	872139	56321602	2807381	834	126432											
ZNF460	10794	broad.mit.edu	37	chr19	57803241	57803241	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagtggattcatactggAgagaagccgtatgtatgcat	11	8	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:57803241A>G	uc002qog.2	+	3	1654	c.1332A>G	c.(1330-1332)GGA>GGG	p.G444G	ZNF460_uc010ygv.1_Silent_p.G403G	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCATACTGGAGAGAAGCCGT	0.483													G	57803241	A	G	57803241	2	3	253	1	0	0	0	0	0	0	0	1	17921	291	11	3		3	ZNF460	19	57803241	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1481639	57803241	1325742	835	126433											
ZNF772	400720	broad.mit.edu	37	chr19	57986509	57986509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgggacatgaaagatgTatgtcctaagggaaagatag	13	3	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:57986509T>C	uc002qot.2	-	4	466	c.205A>G	c.(205-207)ACA>GCA	p.T69A	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Intron|ZNF772_uc010ygz.1_Intron|ZNF772_uc010yha.1_Intron|ZNF772_uc002qou.2_Intron	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		ATGAAAGATGTATGTCCTAAG	0.448													C	57986509	T	C	57986509	3	2	253	1	0	0	0	0	1	0	0	0	18142	1638	57	3	1272	3	ZNF772	19	57986509	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	183268	57986509	1142474	836	126434											
ZNF497	162968	broad.mit.edu	37	chr19	58868276	58868276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaggcgtgcggccgcgcGcccgtgtgcacgcgccggtg	19	16	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr19:58868276G>A	uc002qsh.1	-	3	915	c.726C>T	c.(724-726)GGC>GGT	p.G242G	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.G242G|uc002qsj.1_5'UTR|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		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)		GCGGCCGCGCGCCCGTGTGCA	0.697													A	58868276	G	A	58868276	2	1	253	1	0	0	0	0	0	0	0	1	17943	1074	38	1		1	ZNF497	19	58868276	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	881767	58868276	260707	837	126435											
DEFB125	245938	broad.mit.edu	37	chr20	76838	76838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataacattggattatagtgAtgtggactcttttactggtt	9	4	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:76838A>G	uc002wcw.2	+	2	251	c.251A>G	c.(250-252)GAT>GGT	p.D84G		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	84					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			GATTATAGTGATGTGGACTCT	0.368													G	76838	A	G	76838	3	3	253	1	0	0	0	0	1	0	0	0	4411	333	12	3	257	3	DEFB125	20	76838	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08		76838	62948682	838	126436											
FASTKD5	60493	broad.mit.edu	37	chr20	3129630	3129630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgctcacattccagtaTgacacacttcggactgcacc	8	14	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:3129630T>C	uc002whz.2	-	2	398	c.87A>G	c.(85-87)TCA>TCG	p.S29S	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	29					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						CATTCCAGTATGACACACTTC	0.463													C	3129630	T	C	3129630	2	2	253	1	0	0	0	0	0	0	0	1	5688	1451	51	3		3	FASTKD5	20	3129630	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	3052792	3129630	59895890	839	126437											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678776	3678776	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgttggttgtcgaggGgggtctgcagggaggaagaa	20	3	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:3678776G>T	uc002wja.2	-	8	1791	c.1791C>A	c.(1789-1791)CCC>CCA	p.P597P	SIGLEC1_uc002wiz.3_Silent_p.P597P	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	597	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GTTGTCGAGGGGGGTCTGCAG	0.637													T	3678776	G	T	3678776	2	4	253	1	0	0	0	0	0	0	0	1	14305	1219	43	5		5	SIGLEC1	20	3678776	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	549146	3678776	59346744	840	126438											
HAO1	54363	broad.mit.edu	37	chr20	7866403	7866403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaaacacagccttggCgccaagagccagagctttca	8	16	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:7866403C>T	uc002wmw.1	-	6	946	c.922G>A	c.(922-924)GCC>ACC	p.A308T	HAO1_uc010gbu.2_Missense_Mutation_p.A308T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	308	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				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			ovary(3)	3						ACAGCCTTGGCGCCAAGAGCC	0.483													T	7866403	C	T	7866403	3	4	253	1	0	0	0	0	1	0	0	0	6951	768	27	1	202	1	HAO1	20	7866403	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4187627	7866403	55159117	841	126439											
SPTLC3	55304	broad.mit.edu	37	chr20	13053052	13053052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagacgactataactggaCgtttaggtgagagaacttct	10	7	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:13053052C>T	uc002wod.1	+	3	741	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	151					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	TATAACTGGACGTTTAGGTGA	0.463													T	13053052	C	T	13053052	3	4	253	1	0	0	0	0	1	0	0	0	15124	536	19	1	462	1	SPTLC3	20	13053052	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5186649	13053052	49972468	842	126440											
RRBP1	6238	broad.mit.edu	37	chr20	17617341	17617341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcactttggcctcccCggctgctgctttggcctttt	8	14	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:17617341C>T	uc002wpv.1	-	7	1273	c.919G>A	c.(919-921)GGG>AGG	p.G307R	RRBP1_uc002wpu.2_Missense_Mutation_p.G81R|RRBP1_uc002wpw.1_Missense_Mutation_p.G307R|RRBP1_uc010gcl.1_Missense_Mutation_p.G81R|RRBP1_uc010gcm.1_5'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	740	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TTGGCCTCCCCGGCTGCTGCT	0.622													T	17617341	C	T	17617341	3	4	253	1	0	0	0	0	1	0	0	0	13678	652	23	1	2094	1	RRBP1	20	17617341	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4564289	17617341	45408179	843	126441											
PAX1	5075	broad.mit.edu	37	chr20	21687400	21687400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccggctgctggccgacgGcgtctgtgacaagtacaatg	14	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:21687400G>A	uc002wsj.2	+	2	665	c.611G>A	c.(610-612)GGC>GAC	p.G204D	PAX1_uc010zsl.1_Missense_Mutation_p.G204D|PAX1_uc010zsm.1_Missense_Mutation_p.G180D	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	204	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CTGGCCGACGGCGTCTGTGAC	0.627													A	21687400	G	A	21687400	3	1	253	1	0	0	0	0	1	0	0	0	11478	1203	42	2	617	2	PAX1	20	21687400	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4070059	21687400	41338120	844	126442											
C20orf160	140706	broad.mit.edu	37	chr20	30602812	30602812	+	Frame_Shift_Del	DEL	C	C	-													tgcactcgatgcccctttatCcccccgactacctcatcgac							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:30602811_30602811TC>T	uc002wxf.2	+	1	148	c.135_135TC>T	c.(133-135)tatfs	p.Y45fs		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	45										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TGCCCCTTTATCCCCCCGACT	0.627													-	30602812	C	-	30602812	7	5	253	1	0	1	0	1	0	0	0	0	2093	855	30	0	142	0	C20orf160	20	30602812	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	8915412	30602812	32422708	845	126443											
MYH7B	57644	broad.mit.edu	37	chr20	33572917	33572917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgggaagctggcatccGcggatattgacagctgtgag	14	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:33572917G>A	uc002xbi.1	+	11	1008	c.916G>A	c.(916-918)GCG>ACG	p.A306T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	264	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTGGCATCCGCGGATATTGA	0.642													A	33572917	G	A	33572917	3	1	253	1	0	0	0	0	1	0	0	0	10040	1087	38	1	958	1	MYH7B	20	33572917	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2970105	33572917	29452603	846	126444											
FAM83C	128876	broad.mit.edu	37	chr20	33876355	33876355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagccttgctgcagtAtgtgtccccacacgtgctcc	11	16	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:33876355A>G	uc010zux.1	-	3	833	c.715T>C	c.(715-717)TAC>CAC	p.Y239H	FAM83C_uc002xcb.1_Missense_Mutation_p.Y63H	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	239										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGCTGCAGTATGTGTCCCCA	0.607													G	33876355	A	G	33876355	3	3	253	1	0	0	0	0	1	0	0	0	5635	449	16	3	1536	3	FAM83C	20	33876355	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	303438	33876355	29149165	847	126445											
SPAG4	6676	broad.mit.edu	37	chr20	34206915	34206915	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccgactatgctttgagctCtgtgggtaagacccggagac	13	11	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:34206915C>T	uc002xdb.1	+	8	905	c.788C>T	c.(787-789)TCT>TTT	p.S263F	SPAG4_uc010zvi.1_Missense_Mutation_p.S186F	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	263					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCTTTGAGCTCTGTGGGTAAG	0.458													T	34206915	C	T	34206915	3	4	253	1	0	0	0	0	1	0	0	0	14980	913	32	4	818	4	SPAG4	20	34206915	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	330560	34206915	28818605	848	126446											
BPI	671	broad.mit.edu	37	chr20	36962864	36962864	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggatatcatgaactacatTgtacccattcttgtgctgcc	7	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:36962864T>C	uc002xib.2	+	13	1379	c.1317T>C	c.(1315-1317)ATT>ATC	p.I439I		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	439					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			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				TGAACTACATTGTACCCATTC	0.512													C	36962864	T	C	36962864	2	2	253	1	0	0	0	0	0	0	0	1	1490	1800	63	3		3	BPI	20	36962864	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	2755949	36962864	26062656	849	126447											
JPH2	57158	broad.mit.edu	37	chr20	42788504	42788504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagcggaggccactggagCgttcgctcacgccgaagccc	14	15	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:42788504C>T	uc002xli.1	-	2	1796	c.923G>A	c.(922-924)CGC>CAC	p.R308H		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	308	MORN 7.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCACTGGAGCGTTCGCTCAC	0.672													T	42788504	C	T	42788504	3	4	253	1	0	0	0	0	1	0	0	0	7961	768	27	1	1183	1	JPH2	20	42788504	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	5825640	42788504	20237016	850	126448											
R3HDML	140902	broad.mit.edu	37	chr20	42973914	42973914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagatggtgtgggcAtcctccaatcggctgggctg	13	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:42973914A>G	uc002xls.1	+	4	697	c.525A>G	c.(523-525)GCA>GCG	p.A175A		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	175						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TGGTGTGGGCATCCTCCAATC	0.587													G	42973914	A	G	42973914	2	3	253	1	0	0	0	0	0	0	0	1	12889	204	8	3		3	R3HDML	20	42973914	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	185410	42973914	20051606	851	126449											
PABPC1L	80336	broad.mit.edu	37	chr20	43545420	43545420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtgacgagcatggctcCcggggtttcggctttgtcca	15	11	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:43545420C>T	uc010ggv.1	+	3	493	c.411C>T	c.(409-411)TCC>TCT	p.S137S	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	137	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						AGCATGGCTCCCGGGGTTTCG	0.557													T	43545420	C	T	43545420	2	4	253	1	0	0	0	0	0	0	0	1	11364	610	22	4		4	PABPC1L	20	43545420	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	571506	43545420	19480100	852	126450											
PREX1	57580	broad.mit.edu	37	chr20	47269921	47269921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcttcgcgccgactcCggaatgcctggaagtgctcc	13	15	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:47269921C>T	uc002xtw.1	-	20	2347	c.2324G>A	c.(2323-2325)CGG>CAG	p.R775Q	PREX1_uc002xtv.1_Missense_Mutation_p.R72Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	775					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGCCGACTCCGGAATGCCTG	0.592													T	47269921	C	T	47269921	3	4	253	1	0	0	0	0	1	0	0	0	12476	652	23	1	2739	1	PREX1	20	47269921	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3724501	47269921	15755599	853	126451											
CSE1L	1434	broad.mit.edu	37	chr20	47688929	47688929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccagcgatacctgcctcGttttgttacagccatctgga	8	12	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:47688929G>A	uc002xty.2	+	9	1009	c.875G>A	c.(874-876)CGT>CAT	p.R292H	CSE1L_uc010zyg.1_Missense_Mutation_p.R75H|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_5'UTR|CSE1L_uc010zyh.1_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	292					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TACCTGCCTCGTTTTGTTACA	0.398													A	47688929	G	A	47688929	3	1	253	1	0	0	0	0	1	0	0	0	3930	1145	40	1	905	1	CSE1L	20	47688929	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	419008	47688929	15336591	854	126452											
KCNB1	3745	broad.mit.edu	37	chr20	47991257	47991257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgctcttgttggattcGgtgaggaaaatggtgacata	13	6	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:47991257G>A	uc002xur.1	-	2	1004	c.840C>T	c.(838-840)ACC>ACT	p.T280T	KCNB1_uc002xus.1_Silent_p.T280T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	280	Helical; Name=Segment S3; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTTGGATTCGGTGAGGAAAA	0.522													A	47991257	G	A	47991257	2	1	253	1	0	0	0	0	0	0	0	1	8012	1103	39	1		1	KCNB1	20	47991257	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	302328	47991257	15034263	855	126453											
TSHZ2	128553	broad.mit.edu	37	chr20	51872445	51872446	+	Frame_Shift_Ins	INS	-	-	C													cagcctcctcctccagggtcINSccccccatgaagctggaaat							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:51872444_51872445T>TC	uc002xwo.3	+	1	3334_3335	c.2447_2448T>TC	c.(2446-2448)gtcfs	p.V816fs	TSHZ2_uc021wex.1_Frame_Shift_Ins_p.V813fs	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	816					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)			TCCTCCAGGGTCCCCCCCATGA	0.55													C	51872446	-	C	51872445	7	5	253	1	0	1	1	0	0	0	0	0	16621	842	30	0	2454	0	TSHZ2	20	51872445	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	3881188	51872445	11153075	856	126454											
MC3R	4159	broad.mit.edu	37	chr20	54824454	54824454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcgtctactcggagagCaaaatggtcattgtgtgcct	10	9	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:54824454C>T	uc002xxb.2	+	1	667	c.555C>T	c.(553-555)AGC>AGT	p.S185S		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	222	Extracellular (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			ACTCGGAGAGCAAAATGGTCA	0.567													T	54824454	C	T	54824454	2	4	253	1	0	0	0	0	0	0	0	1	9365	709	25	2		2	MC3R	20	54824454	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2952009	54824454	8201066	857	126455											
AURKA	6790	broad.mit.edu	37	chr20	54956591	54956591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtagactctggtagcatcAtggaaataaccatacagtct	9	8	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:54956591A>G	uc002xxd.1	-	8	1169	c.603T>C	c.(601-603)CAT>CAC	p.H201H	AURKA_uc002xxe.1_Silent_p.H201H|AURKA_uc002xxf.1_Silent_p.H201H|AURKA_uc002xxg.1_Silent_p.H201H|AURKA_uc002xxh.1_Silent_p.H201H|AURKA_uc002xxi.1_Silent_p.H201H|AURKA_uc002xxj.1_Silent_p.H201H|AURKA_uc002xxk.1_Silent_p.H201H|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	201	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)			TGGTAGCATCATGGAAATAAC	0.373													G	54956591	A	G	54956591	2	3	253	1	0	0	0	0	0	0	0	1	1221	214	8	3		3	AURKA	20	54956591	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	132137	54956591	8068929	858	126456											
C20orf43	51507	broad.mit.edu	37	chr20	55059239	55059239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagataaaagcggaagtttgCcacacggtgagttcctgaca	12	8	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:55059239C>T	uc002xxt.2	+	5	578	c.471C>T	c.(469-471)TGC>TGT	p.C157C	C20orf43_uc010zzf.1_Silent_p.C187C|C20orf43_uc002xxu.2_Silent_p.C157C|C20orf43_uc002xxv.2_Silent_p.C157C	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	157										ovary(1)	1			Colorectal(105;0.202)			CGGAAGTTTGCCACACGGTGA	0.478													T	55059239	C	T	55059239	2	4	253	1	0	0	0	0	0	0	0	1	2112	747	26	2		2	C20orf43	20	55059239	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	102648	55059239	7966281	859	126457											
CTSZ	1522	broad.mit.edu	37	chr20	57576650	57576650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgatgacgttctgcacGgacaggagggtggagggcca	17	9	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:57576650G>A	uc002yai.2	-	3	483	c.357C>T	c.(355-357)TCC>TCT	p.S119S	CTSZ_uc002yaj.3_Silent_p.S119S	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	cathepsin Z preproprotein	119					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			kidney(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			CGTTCTGCACGGACAGGAGGG	0.602													A	57576650	G	A	57576650	2	1	253	1	0	0	0	0	0	0	0	1	4043	1103	39	1		1	CTSZ	20	57576650	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2517411	57576650	5448870	860	126458											
ZBTB46	140685	broad.mit.edu	37	chr20	62421541	62421541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagctgctccctccgtcGtgacagctggcgatggccga	13	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:62421541G>A	uc002ygv.1	-	2	771	c.570C>T	c.(568-570)CAC>CAT	p.H190H	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCCTCCGTCGTGACAGCTGG	0.622													A	62421541	G	A	62421541	2	1	253	1	0	0	0	0	0	0	0	1	17544	1136	40	1		1	ZBTB46	20	62421541	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4844891	62421541	603979	861	126459											
UCKL1	54963	broad.mit.edu	37	chr20	62572046	62572046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccatggtttcaccggcGcgcagaatggacacaccggt	13	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr20:62572046G>A	uc010gkn.2	-	12	1246	c.1203C>T	c.(1201-1203)CGC>CGT	p.R401R	UCKL1_uc002yhj.2_Silent_p.R44R|UCKL1_uc011abm.1_Silent_p.R386R|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	401					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTTCACCGGCGCGCAGAATGG	0.682													A	62572046	G	A	62572046	2	1	253	1	0	0	0	0	0	0	0	1	16922	1074	38	1		1	UCKL1	20	62572046	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	150505	62572046	453474	862	126460											
KRTAP8-1	337879	broad.mit.edu	37	chr21	32185383	32185383	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgagtatctcctgtagccGaaagccccacagccgttgta	11	13	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:32185383G>A	uc002you.2	-	1	188	c.156C>T	c.(154-156)TTC>TTT	p.F52F		NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	52	12 X 2 AA repeats of G-[YCGS].					intermediate filament					0						TCCTGTAGCCGAAAGCCCCAC	0.562													A	32185383	G	A	32185383	2	1	253	1	0	0	0	0	0	0	0	1	8572	1049	37	1		1	KRTAP8-1	21	32185383	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08		32185383	15944512	863	126461											
SFRS15	57466	broad.mit.edu	37	chr21	33073415	33073415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagcctgaacctgagccaTcacagcattgtcaagggcag	11	11	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:33073415T>C	uc002ypd.2	-	7	1096	c.670A>G	c.(670-672)ATG>GTG	p.M224V	SFRS15_uc002ype.2_Missense_Mutation_p.M224V|SFRS15_uc010glu.2_Missense_Mutation_p.M209V|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Missense_Mutation_p.M224V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	224						nucleus	nucleotide binding|RNA binding				0						ACCTGAGCCATCACAGCATTG	0.448													C	33073415	T	C	33073415	3	2	253	1	0	0	0	0	1	0	0	0	14171	1435	50	3	2829	3	SFRS15	21	33073415	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	888032	33073415	15056480	864	126462											
MRAP	56246	broad.mit.edu	37	chr21	33684248	33684248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaatgggggtcccctcGtcaggagcaagcccagcgag	13	15	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:33684248G>A	uc002ypj.2	+	5	647	c.460G>A	c.(460-462)GTC>ATC	p.V154I	MRAP_uc002ypk.2_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.1_Missense_Mutation_p.V95I|MRAP_uc002ypl.2_Missense_Mutation_p.V154I	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	154	Extracellular (Potential).				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				0						GGGTCCCCTCGTCAGGAGCAA	0.602													A	33684248	G	A	33684248	3	1	253	1	0	0	0	0	1	0	0	0	9753	1145	40	1	470	1	MRAP	21	33684248	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	610833	33684248	14445647	865	126463											
GART	2618	broad.mit.edu	37	chr21	34907049	34907049	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcctgcagacctcaggttCccaacaatccctattgatga	6	14	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:34907049C>T	uc002yrx.2	-	4	387	c.252G>A	c.(250-252)GGG>GGA	p.G84G	GART_uc002yrz.2_Silent_p.G84G|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Silent_p.G84G|GART_uc002ysa.2_Silent_p.G84G	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	84					'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			ovary(1)	1					Pemetrexed(DB00642)	ACCTCAGGTTCCCAACAATCC	0.473													T	34907049	C	T	34907049	2	4	253	1	0	0	0	0	0	0	0	1	6243	842	30	4		4	GART	21	34907049	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1222801	34907049	13222846	866	126464											
TTC3	7267	broad.mit.edu	37	chr21	38497038	38497038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacggtggtaatcagaatcTaaaggtaagctccattgaaa	9	7	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:38497038T>C	uc002yvz.2	+	14	1334	c.1229T>C	c.(1228-1230)CTA>CCA	p.L410P	TTC3_uc011aee.1_Missense_Mutation_p.L100P|TTC3_uc002ywa.2_Missense_Mutation_p.L410P|TTC3_uc002ywb.2_Missense_Mutation_p.L410P|TTC3_uc010gnf.2_Missense_Mutation_p.L175P|TTC3_uc002ywc.2_Missense_Mutation_p.L100P|TTC3_uc011aed.1_Missense_Mutation_p.L100P|TTC3_uc010gne.1_Missense_Mutation_p.L410P	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	410					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AATCAGAATCTAAAGGTAAGC	0.323													C	38497038	T	C	38497038	3	2	253	1	0	0	0	0	1	0	0	0	16694	1522	53	3	1279	3	TTC3	21	38497038	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	3589989	38497038	9632857	867	126465											
TTC3	7267	broad.mit.edu	37	chr21	38529174	38529174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagacaagttcccagcattGcatagtgctttagatgaatt	9	7	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:38529174G>A	uc002yvz.2	+	28	3063	c.2958G>A	c.(2956-2958)TTG>TTA	p.L986L	TTC3_uc011aee.1_Silent_p.L676L|TTC3_uc002ywa.2_Silent_p.L986L|TTC3_uc002ywb.2_Silent_p.L986L|TTC3_uc010gnf.2_Silent_p.L751L|TTC3_uc002ywc.2_Silent_p.L676L|TTC3_uc002ywd.1_Silent_p.L50L	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	986					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				TCCCAGCATTGCATAGTGCTT	0.378													A	38529174	G	A	38529174	2	1	253	1	0	0	0	0	0	0	0	1	16694	1310	46	2		2	TTC3	21	38529174	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	32136	38529174	9600721	868	126466											
UMODL1	89766	broad.mit.edu	37	chr21	43519199	43519199	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagccaggcactggcagtGgctgggctggaggctggagt	19	9	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:43519199G>T	uc002zaf.1	+	7	1095	c.1095G>T	c.(1093-1095)GTG>GTT	p.V365V	UMODL1_uc002zad.1_Silent_p.V293V|UMODL1_uc002zae.1_Silent_p.V293V|UMODL1_uc002zag.1_Silent_p.V365V|UMODL1_uc010gow.1_Silent_p.V157V|UMODL1_uc002zai.1_Silent_p.V16V|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Silent_p.V16V|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.V110V	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	365	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CACTGGCAGTGGCTGGGCTGG	0.597													T	43519199	G	T	43519199	2	4	253	1	0	0	0	0	0	0	0	1	16977	1335	47	5		5	UMODL1	21	43519199	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4990025	43519199	4610696	869	126467											
COL6A2	1292	broad.mit.edu	37	chr21	47536294	47536294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcctgcccccagggcGttcctggcttcaaaggagag	11	15	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:47536294G>A	uc002zia.1	+	8	986	c.904G>A	c.(904-906)GTT>ATT	p.V302I	COL6A2_uc002zhy.1_Missense_Mutation_p.V302I|COL6A2_uc002zhz.1_Missense_Mutation_p.V302I|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGGGCGTTCCTGGCTT	0.667													A	47536294	G	A	47536294	3	1	253	1	0	0	0	0	1	0	0	0	3700	1145	40	1	930	1	COL6A2	21	47536294	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	4017095	47536294	593601	870	126468											
COL6A2	1292	broad.mit.edu	37	chr21	47546072	47546072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcctgcgacaagccacaGcaggtgcgcaacatgacgct	11	14	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr21:47546072G>A	uc002zia.1	+	26	2425	c.2343G>A	c.(2341-2343)CAG>CAA	p.Q781Q	COL6A2_uc002zhy.1_Silent_p.Q781Q|COL6A2_uc002zhz.1_Silent_p.Q781Q|COL6A2_uc002zib.1_Silent_p.Q187Q|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	781	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACAAGCCACAGCAGGTGCGCA	0.622													A	47546072	G	A	47546072	2	1	253	1	0	0	0	0	0	0	0	1	3700	962	34	2		2	COL6A2	21	47546072	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	9778	47546072	583823	871	126469											
UFD1L	7353	broad.mit.edu	37	chr22	19438229	19438229	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttacgcaatgactgtccTtctccagagaaagcgacgaa	8	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:19438229T>C	uc002zpm.2	-	12	1018	c.888A>G	c.(886-888)GAA>GAG	p.E296E	UFD1L_uc002zpo.2_3'UTR|UFD1L_uc011agy.1_3'UTR|UFD1L_uc002zpp.2_3'UTR	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	296					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					ATGACTGTCCTTCTCCAGAGA	0.398													C	19438229	T	C	19438229	2	2	253	1	0	0	0	0	0	0	0	1	16932	1606	56	3		3	UFD1L	22	19438229	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08		19438229	31866337	872	126470											
CLDN5	7122	broad.mit.edu	37	chr22	19511360	19511360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgcggacgacaatgttgGcgaaccagcagagtggcacg	14	11	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:19511360G>A	uc002zpu.2	-	2	889	c.674C>T	c.(673-675)GCC>GTC	p.A225V	CLDN5_uc010grr.2_Missense_Mutation_p.A225V	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	140	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					GACAATGTTGGCGAACCAGCA	0.687													A	19511360	G	A	19511360	3	1	253	1	0	0	0	0	1	0	0	0	3488	1203	42	2	241	2	CLDN5	22	19511360	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	73131	19511360	31793206	873	126471											
RTN4R	65078	broad.mit.edu	37	chr22	20230610	20230610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggcctgcagccacaGcacccatgccagcagccggc	11	19	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:20230610G>A	uc002zrv.2	-	2	247	c.46C>T	c.(46-48)CTG>TTG	p.L16L	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	16					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					TGCAGCCACAGCACCCATGCC	0.637													A	20230610	G	A	20230610	2	1	253	1	0	0	0	0	0	0	0	1	13730	962	34	2		2	RTN4R	22	20230610	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	719250	20230610	31073956	874	126472											
CCDC116	164592	broad.mit.edu	37	chr22	21988981	21988981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctttctgcagaaaggccTcagtcagtcctgctcccaga	8	15	4	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:21988981T>C	uc002zve.2	+	4	722	c.629T>C	c.(628-630)CTC>CCC	p.L210P	CCDC116_uc011aih.1_Missense_Mutation_p.L210P	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	210										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CAGAAAGGCCTCAGTCAGTCC	0.607													C	21988981	T	C	21988981	3	2	253	1	0	0	0	0	1	0	0	0	2753	1551	54	3	639	3	CCDC116	22	21988981	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1758371	21988981	29315585	875	126473											
CABIN1	23523	broad.mit.edu	37	chr22	24560426	24560426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagctttgcctggcacaTgaaccgctccatcgtgctgc	12	14	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:24560426T>C	uc002zzi.1	+	30	4932	c.4805T>C	c.(4804-4806)ATG>ACG	p.M1602T	CABIN1_uc002zzj.1_Missense_Mutation_p.M1523T|CABIN1_uc002zzl.1_Missense_Mutation_p.M1602T|CABIN1_uc002zzm.1_Missense_Mutation_p.M27T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1602					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GCCTGGCACATGAACCGCTCC	0.647													C	24560426	T	C	24560426	3	2	253	1	0	0	0	0	1	0	0	0	2528	1464	51	3	4919	3	CABIN1	22	24560426	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	2571445	24560426	26744140	876	126474											
HPS4	89781	broad.mit.edu	37	chr22	26860141	26860141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccaggccttgttccccCgtgggaagcttgtttcctct	9	14	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:26860141C>T	uc003acl.2	-	11	2114	c.1455G>A	c.(1453-1455)ACG>ACA	p.T485T	HPS4_uc003aci.2_Silent_p.T480T|HPS4_uc003acj.2_Silent_p.T349T|HPS4_uc003ack.2_Silent_p.T276T|HPS4_uc003acn.2_Silent_p.T331T|HPS4_uc010gvd.1_Silent_p.T503T|HPS4_uc003ach.2_Silent_p.T220T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	485					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						CTTGTTCCCCCGTGGGAAGCT	0.582									Hermansky-Pudlak_syndrome				T	26860141	C	T	26860141	2	4	253	1	0	0	0	0	0	0	0	1	7341	639	23	1		1	HPS4	22	26860141	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2299715	26860141	24444425	877	126475											
TFIP11	24144	broad.mit.edu	37	chr22	26890185	26890185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatggatgtgccagcactTggtctgagaacatcgacttc	11	10	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:26890185T>C	uc003acr.2	-	13	2452	c.2078A>G	c.(2077-2079)CAA>CGA	p.Q693R	TFIP11_uc003acq.2_Missense_Mutation_p.Q52R|TFIP11_uc003acs.2_Missense_Mutation_p.Q693R|TFIP11_uc003act.2_Missense_Mutation_p.Q693R|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	693					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCCAGCACTTGGTCTGAGAA	0.473													C	26890185	T	C	26890185	3	2	253	1	0	0	0	0	1	0	0	0	15804	1812	63	3	443	3	TFIP11	22	26890185	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	30044	26890185	24414381	878	126476											
CHEK2	11200	broad.mit.edu	37	chr22	29090060	29090060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcttcttctgtcgtaaaaCgtgcctttggatccactacc	8	12	2	0	rs121908706		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:29090060C>T	uc003adu.1	-	13	1493	c.1421G>A	c.(1420-1422)CGT>CAT	p.R474H	CHEK2_uc003ads.1_Missense_Mutation_p.R253H|CHEK2_uc010gvh.1_Missense_Mutation_p.R383H|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R517H|CHEK2_uc003adv.1_Missense_Mutation_p.R445H|CHEK2_uc003adw.1_Missense_Mutation_p.R474H|CHEK2_uc003adx.1_Missense_Mutation_p.R253H|CHEK2_uc003ady.1_Missense_Mutation_p.R463H|CHEK2_uc003adz.1_Missense_Mutation_p.R278H	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	474	Protein kinase.				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)|stomach(1)|ovary(1)|lung(1)	20						TGTCGTAAAACGTGCCTTTGG	0.458			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				T	29090060	C	T	29090060	3	4	253	1	0	0	0	0	1	0	0	0	3335	536	19	1	222	1	CHEK2	22	29090060	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	2199875	29090060	22214506	879	126477											
EMID1	129080	broad.mit.edu	37	chr22	29621174	29621174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgggcagtaccatgcgGcggatggcgcttcggcccac	16	13	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:29621174G>A	uc003aen.2	+	4	441	c.366G>A	c.(364-366)CGG>CGA	p.R122R	EMID1_uc003aem.2_Silent_p.R124R|EMID1_uc003aeo.2_Silent_p.R124R|EMID1_uc003aep.2_Silent_p.R124R	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	122						collagen					0						GTACCATGCGGCGGATGGCGC	0.642													A	29621174	G	A	29621174	2	1	253	1	0	0	0	0	0	0	0	1	5091	1190	42	2		2	EMID1	22	29621174	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	531114	29621174	21683392	880	126478											
PATZ1	23598	broad.mit.edu	37	chr22	31723054	31723054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggggcccccgagagcccgGacatgcaccttctggatgtg	15	13	1	1	rs139600326	by1000genomes	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:31723054G>A	uc003akq.2	-	5	2548	c.1887C>T	c.(1885-1887)GTC>GTT	p.V629V	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Silent_p.V583V	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	629					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CGAGAGCCCGGACATGCACCT	0.562													A	31723054	G	A	31723054	2	1	253	1	0	0	0	0	0	0	0	1	11476	1161	41	4		4	PATZ1	22	31723054	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2101880	31723054	19581512	881	126479											
SLC5A4	6527	broad.mit.edu	37	chr22	32616985	32616985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgctcctctgtactgttccGaagaacccagcacaggcggt	10	14	1	1	rs139861447	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:32616985G>A	uc003ami.2	-	14	1692	c.1690C>T	c.(1690-1692)CGG>TGG	p.R564W		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	564	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						GTACTGTTCCGAAGAACCCAG	0.398													A	32616985	G	A	32616985	3	1	253	1	0	0	0	0	1	0	0	0	14667	1057	37	1	297	1	SLC5A4	22	32616985	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	893931	32616985	18687581	882	126480											
RFPL3	10738	broad.mit.edu	37	chr22	32754283	32754283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagccccatggggaggaTctgctttgctgttgctgttc	14	9	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:32754283T>C	uc003amj.2	+	1	430	c.225T>C	c.(223-225)GAT>GAC	p.D75D	RFPL3_uc010gwn.2_Silent_p.D46D	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN	ret finger protein-like 3 isoform 1	75	RING-type.						zinc ion binding			ovary(1)	1						ATGGGGAGGATCTGCTTTGCT	0.532													C	32754283	T	C	32754283	2	2	253	1	0	0	0	0	0	0	0	1	13255	1432	50	3		3	RFPL3	22	32754283	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	137298	32754283	18550283	883	126481											
IL2RB	3560	broad.mit.edu	37	chr22	37531453	37531453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccacgaggaggtggcCgagccacggaatggtgtcct	17	11	0	0	rs141482021		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:37531453C>T	uc003aqv.1	-	8	864	c.733G>A	c.(733-735)GGC>AGC	p.G245S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	245	Helical; (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGAGGTGGCCGAGCCACGGA	0.592													T	37531453	C	T	37531453	3	4	253	1	0	0	0	0	1	0	0	0	7687	652	23	1	934	1	IL2RB	22	37531453	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4777170	37531453	13773113	884	126482											
MICALL1	85377	broad.mit.edu	37	chr22	38322025	38322025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagaagcgccctgccccGcgcgcacccagcgcgtcccc	10	21	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:38322025G>A	uc003aui.2	+	8	1524	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	480	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					GCCCTGCCCCGCGCGCACCCA	0.706													A	38322025	G	A	38322025	2	1	253	1	0	0	0	0	0	0	0	1	9573	1074	38	1		1	MICALL1	22	38322025	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	790572	38322025	12982541	885	126483											
KCNJ4	3761	broad.mit.edu	37	chr22	38823343	38823343	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaagcgggctgtcctcgtcGatctcgtggacaatgatgat	12	9	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:38823343G>A	uc003avs.1	-	2	892	c.795C>T	c.(793-795)ATC>ATT	p.I265I	KCNJ4_uc003avt.1_Silent_p.I265I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	265	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGTCCTCGTCGATCTCGTGGA	0.617													A	38823343	G	A	38823343	2	1	253	1	0	0	0	0	0	0	0	1	8053	1048	37	1		1	KCNJ4	22	38823343	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	501318	38823343	12481223	886	126484											
PDGFB	5155	broad.mit.edu	37	chr22	39627801	39627801	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcgcgtcttgcactcggcGatcatggccggctcagcaat	13	13	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:39627801G>A	uc003axf.2	-	4	1271	c.282C>T	c.(280-282)ATC>ATT	p.I94I	PDGFB_uc003axe.2_Silent_p.I79I	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	94					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|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 activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	TGCACTCGGCGATCATGGCCG	0.647			T	COL1A1	DFSP								A	39627801	G	A	39627801	2	1	253	1	0	0	0	0	0	0	0	1	11658	1048	37	1		1	PDGFB	22	39627801	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	804458	39627801	11676765	887	126485											
ATF4	468	broad.mit.edu	37	chr22	39917951	39917952	+	Frame_Shift_Ins	INS	-	-	C													ccaggagactaataagcagcINSccccccagacggtgaaccca							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:39917950_39917951G>GC	uc003axz.3	+	2	679_680	c.399_400G>GC	c.(397-402)cagcccfs	p.Q133fs	ATF4_uc011aol.1_Frame_Shift_Ins_p.Q45fs|ATF4_uc003aya.3_Frame_Shift_Ins_p.Q133fs|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	133					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)					CTAATAAGCAGCCCCCCCAGAC	0.525													C	39917952	-	C	39917951	7	5	253	1	0	1	1	0	0	0	0	0	1082	739	26	0	406	0	ATF4	22	39917951	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	290150	39917951	11386615	888	126486											
MCHR1	2847	broad.mit.edu	37	chr22	41077613	41077613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcccagcgcagcatccGgctgcggacaaagagggtga	14	14	0	2	rs45439291	byFrequency	TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:41077613G>A	uc003ayz.2	+	2	1218	c.950G>A	c.(949-951)CGG>CAG	p.R317Q	MCHR1_uc003aza.2_Missense_Mutation_p.R206Q|uc003azb.1_RNA	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	317	Cytoplasmic (Potential).				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				0						CGCAGCATCCGGCTGCGGACA	0.612													A	41077613	G	A	41077613	3	1	253	1	0	0	0	0	1	0	0	0	9382	1116	39	1	956	1	MCHR1	22	41077613	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1159662	41077613	10226953	889	126487											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753226	41753226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggggacaagtgccgctgCgcccatggacaggaggagct	17	10	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:41753226C>T	uc003azw.2	+	23	2943	c.2727C>T	c.(2725-2727)TGC>TGT	p.C909C	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	925	C3H1-type 4.|Potential.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						AGTGCCGCTGCGCCCATGGAC	0.662													T	41753226	C	T	41753226	2	4	253	1	0	0	0	0	0	0	0	1	17570	776	27	1		1	ZC3H7B	22	41753226	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	675613	41753226	9551340	890	126488											
SREBF2	6721	broad.mit.edu	37	chr22	42289201	42289201	+	Frame_Shift_Del	DEL	C	C	-													tccctgcgctggctctgccaCcccctgggccagaagttttt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:42289200_42289200AC>A	uc003bbi.3	+	11	2457	c.2288_2288AC>A	c.(2287-2289)cacfs	p.H763fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	763					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	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						TGGCTCTGCCACCCCCTGGGC	0.597													-	42289201	C	-	42289201	7	5	253	1	0	1	0	1	0	0	0	0	15141	506	18	0	2335	0	SREBF2	22	42289201	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	535975	42289201	9015365	891	126489											
SCUBE1	80274	broad.mit.edu	37	chr22	43623396	43623396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacccacgcaatccttcccGttccagtggagccgcctccc	7	20	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:43623396G>A	uc003bdt.1	-	10	1279	c.1191C>T	c.(1189-1191)AAC>AAT	p.N397N		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	397	EGF-like 9; 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			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				AATCCTTCCCGTTCCAGTGGA	0.662													A	43623396	G	A	43623396	2	1	253	1	0	0	0	0	0	0	0	1	13944	1136	40	1		1	SCUBE1	22	43623396	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1334195	43623396	7681170	892	126490											
EFCAB6	64800	broad.mit.edu	37	chr22	44063056	44063056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcgttttttgaatgcCgggtcctgctgctgtataca	10	8	0	2	rs150612043		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:44063056C>T	uc003bdy.1	-	17	2126	c.1911G>A	c.(1909-1911)CCG>CCA	p.P637P	EFCAB6_uc003bdz.1_Silent_p.P485P|EFCAB6_uc010gzi.1_Silent_p.P485P|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	637	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTTGAATGCCGGGTCCTGCT	0.403													T	44063056	C	T	44063056	2	4	253	1	0	0	0	0	0	0	0	1	4939	639	23	1		1	EFCAB6	22	44063056	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	439660	44063056	7241510	893	126491											
CELSR1	9620	broad.mit.edu	37	chr22	46932131	46932131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtctccttggtctcgcGgtccagtacgctgtccgtgc	13	14	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:46932131G>A	uc003bhw.1	-	1	937	c.937C>T	c.(937-939)CGC>TGC	p.R313C		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	313	Extracellular (Potential).|Cadherin 1.				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		TTGGTCTCGCGGTCCAGTACG	0.627													A	46932131	G	A	46932131	3	1	253	1	0	0	0	0	1	0	0	0	3221	1116	39	1	8247	1	CELSR1	22	46932131	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	2869075	46932131	4372435	894	126492											
BRD1	23774	broad.mit.edu	37	chr22	50192691	50192691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgatcagcaggcgagcgCgctccaggtcgtgccgcagc	15	15	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:50192691C>T	uc003biv.2	-	3	2088	c.1601G>A	c.(1600-1602)CGC>CAC	p.R534H	BRD1_uc011arf.1_Missense_Mutation_p.R129H|BRD1_uc011arg.1_Missense_Mutation_p.R588H|BRD1_uc011arh.1_Missense_Mutation_p.R534H|BRD1_uc003biu.3_Missense_Mutation_p.R534H	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	534					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGCGAGCGCGCTCCAGGTC	0.622													T	50192691	C	T	50192691	3	4	253	1	0	0	0	0	1	0	0	0	1501	768	27	1	1615	1	BRD1	22	50192691	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3260560	50192691	1111875	895	126493											
SAPS2	9701	broad.mit.edu	37	chr22	50882340	50882340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagccctgcctgccccgcGccaaaggaagtgactgctgc	11	15	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:50882340G>A	uc003blb.1	+	24	3068	c.2646G>A	c.(2644-2646)GCG>GCA	p.A882A	SAPS2_uc003bky.1_Silent_p.A849A|SAPS2_uc003bkz.1_Silent_p.A848A|SAPS2_uc003blc.2_Silent_p.A875A|SAPS2_uc003bla.1_Silent_p.A849A|SAPS2_uc003bld.1_Silent_p.A408A	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	882						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		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;0.222)		CCTGCCCCGCGCCAAAGGAAG	0.677													A	50882340	G	A	50882340	2	1	253	1	0	0	0	0	0	0	0	1	13837	1074	38	1		1	SAPS2	22	50882340	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	689649	50882340	422226	896	126494											
CPT1B	1375	broad.mit.edu	37	chr22	51012809	51012809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgaacatcctctccaTctggtaggagcacataggca	11	10	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:51012809T>G	uc003bmk.3	-	8	1087	c.925A>C	c.(925-927)ATG>CTG	p.M309L	CPT1B_uc003bml.2_Missense_Mutation_p.M309L|CPT1B_uc003bmm.2_Missense_Mutation_p.M309L|CPT1B_uc003bmo.2_Missense_Mutation_p.M309L|CPT1B_uc011asa.1_Missense_Mutation_p.M275L|CPT1B_uc003bmn.2_Missense_Mutation_p.M309L|CPT1B_uc011asb.1_Missense_Mutation_p.M309L|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.M106L	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	309	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		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;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATCCTCTCCATCTGGTAGGAG	0.612													G	51012809	T	G	51012809	3	3	253	1	0	0	0	0	1	0	0	0	3832	1435	50	5	1437	5	CPT1B	22	51012809	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	130469	51012809	291757	897	126495											
SHANK3	85358	broad.mit.edu	37	chr22	51160556	51160556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtgaccttcagggaccCgctgctgaagcagtcctcgg	14	14	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chr22:51160556C>T	uc003bne.1	+	22	4343	c.4343C>T	c.(4342-4344)CCG>CTG	p.P1448L	SHANK3_uc003bnf.1_Missense_Mutation_p.P895L|SHANK3_uc010hbg.1_Missense_Mutation_p.P630L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1448										central_nervous_system(1)	1		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)		TTCAGGGACCCGCTGCTGAAG	0.682													T	51160556	C	T	51160556	3	4	253	1	0	0	0	0	1	0	0	0	14266	652	23	1	4429	1	SHANK3	22	51160556	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	147747	51160556	144010	898	126496											
MXRA5	25878	broad.mit.edu	37	chrX	3227803	3227803	+	Frame_Shift_Del	DEL	T	T	-													tggagtcactgccgagaatgTtttttgccatgcacttgtag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:3227803delT	uc004crg.3	-	7	8598	c.8441delA	c.(8440-8442)AACfs	p.N2814fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2814	Ig-like C2-type 12.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCGAGAATGTTTTTTGCCAT	0.468													-	3227803	T	-	3227803	7	5	253	1	0	1	0	1	0	0	0	0	10003	1725	60	0	49	0	MXRA5	23	3227803	Frame_Shift_Del	DEL	T	TCGA-HJ-7597-01A-21D-2201-08		3227803	152042757	899	126497											
MXRA5	25878	broad.mit.edu	37	chrX	3235466	3235466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggggcggatctgggtacCgtccccgagcacccagcgca	15	15	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:3235466C>T	uc004crg.3	-	6	6413	c.6256G>A	c.(6256-6258)GGT>AGT	p.G2086S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2086	Ig-like C2-type 5.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTGGGTACCGTCCCCGAGC	0.652													T	3235466	C	T	3235466	3	4	253	1	0	0	0	0	1	0	0	0	10003	652	23	1	2238	1	MXRA5	23	3235466	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	7663	3235466	152035094	900	126498											
TBL1X	6907	broad.mit.edu	37	chrX	9677345	9677345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgctggcatcctgctcgGatgacatgacattgaaggta	12	8	0	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:9677345G>A	uc010ndq.2	+	14	1662	c.1294G>A	c.(1294-1296)GAT>AAT	p.D432N	TBL1X_uc004csq.3_Missense_Mutation_p.D381N|TBL1X_uc010ndr.2_Missense_Mutation_p.D381N|TBL1X_uc004csr.2_Missense_Mutation_p.D432N|TBL1X_uc004css.2_Missense_Mutation_p.D383N	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	432	WD 5.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				ATCCTGCTCGGATGACATGAC	0.517											OREG0019658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	9677345	G	A	9677345	3	1	253	1	0	0	0	0	1	0	0	0	15636	1174	41	4	1336	4	TBL1X	23	9677345	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	6441879	9677345	145593215	901	126499											
CLCN4	1183	broad.mit.edu	37	chrX	10180666	10180666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcacgccagggctgtacGcaatggtgggagctgcggcc	17	11	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:10180666G>A	uc004csy.3	+	10	1979	c.1549G>A	c.(1549-1551)GCA>ACA	p.A517T	CLCN4_uc011mid.1_Missense_Mutation_p.A423T	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	517						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGGGCTGTACGCAATGGTGGG	0.612													A	10180666	G	A	10180666	3	1	253	1	0	0	0	0	1	0	0	0	3465	1087	38	1	1579	1	CLCN4	23	10180666	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	503321	10180666	145089894	902	126500											
MID1	4281	broad.mit.edu	37	chrX	10427780	10427780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgccgctctgcagaccGtgcaccgtgtagtggttctg	14	11	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:10427780G>A	uc004cte.3	-	8	1544	c.1353C>T	c.(1351-1353)CAC>CAT	p.H451H	MID1_uc004ctd.3_Silent_p.H162H|MID1_uc004ctg.3_Silent_p.H451H|MID1_uc004cth.3_Silent_p.H413H|MID1_uc004ctk.3_Silent_p.H451H|MID1_uc004cti.3_Silent_p.H451H|MID1_uc004ctj.3_Silent_p.H451H|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Silent_p.H123H|MID1_uc004cta.3_Silent_p.H207H|MID1_uc004ctb.3_Silent_p.H111H|MID1_uc004ctc.3_Silent_p.H218H	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	451	Fibronectin type-III.				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			ovary(2)|pancreas(1)	3						TCTGCAGACCGTGCACCGTGT	0.517													A	10427780	G	A	10427780	2	1	253	1	0	0	0	0	0	0	0	1	9576	1136	40	1		1	MID1	23	10427780	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	247114	10427780	144842780	903	126501											
MSL3	10943	broad.mit.edu	37	chrX	11790307	11790308	+	Frame_Shift_Ins	INS	-	-	C													agcttgtgcctgacaattacINScccccaggtgaccagccgcc							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:11790306_11790307A>AC	uc004cuw.3	+	10	1418_1419	c.1313_1314A>AC	c.(1312-1314)tacfs	p.Y438fs	MSL3_uc011mig.2_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.2_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.3_Frame_Shift_Ins_p.Y272fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	438					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						CCTGACAATTACCCCCCAGGTG	0.455													C	11790308	-	C	11790307	7	5	253	1	0	1	1	0	0	0	0	0	9879	518	18	0	1436	0	MSL3	23	11790307	Frame_Shift_Ins	INS	-	TCGA-HJ-7597-01A-21D-2201-08	1362527	11790307	143480253	904	126502											
FRMPD4	9758	broad.mit.edu	37	chrX	12734822	12734822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaaacactgatgacgcGgaggacgaggacgaggtgag	17	7	0	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:12734822G>A	uc004cuz.1	+	15	2750	c.2244G>A	c.(2242-2244)GCG>GCA	p.A748A	FRMPD4_uc011mij.1_Silent_p.A740A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	748					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						CTGATGACGCGGAGGACGAGG	0.562													A	12734822	G	A	12734822	2	1	253	1	0	0	0	0	0	0	0	1	6059	1103	39	1		1	FRMPD4	23	12734822	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	944515	12734822	142535738	905	126503											
OFD1	8481	broad.mit.edu	37	chrX	13778670	13778670	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttggagaggacagagtTgtctctgagcagcctcaagt	12	7	2	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:13778670T>C	uc004cvp.3	+	16	2450	c.2091T>C	c.(2089-2091)GTT>GTC	p.V697V	OFD1_uc004cvr.3_Silent_p.V264V|OFD1_uc011mil.1_Silent_p.V264V|OFD1_uc004cvq.3_Silent_p.V557V|OFD1_uc010nen.2_Silent_p.V696V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Silent_p.V656V|OFD1_uc004cvv.3_Silent_p.V656V	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	697	Mediates the interaction with SDCCAG8.				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				0						AGGACAGAGTTGTCTCTGAGC	0.532													C	13778670	T	C	13778670	2	2	253	1	0	0	0	0	0	0	0	1	10838	1799	63	3		3	OFD1	23	13778670	Silent	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1043848	13778670	141491890	906	126504											
ASB9	140462	broad.mit.edu	37	chrX	15287958	15287958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagtcccttggccccgcGggcttgctcccatccatgcc	11	17	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:15287958G>A	uc004cwl.2	-	1	286	c.39C>T	c.(37-39)CCC>CCT	p.P13P	ASB9_uc004cwk.2_Silent_p.P13P|ASB9_uc004cwm.2_Silent_p.P13P|ASB9_uc010ner.2_Silent_p.P13P|ASB9_uc004cwn.2_Silent_p.P13P	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	13					intracellular signal transduction						0	Hepatocellular(33;0.183)					TTGGCCCCGCGGGCTTGCTCC	0.567													A	15287958	G	A	15287958	2	1	253	1	0	0	0	0	0	0	0	1	1030	1103	39	1		1	ASB9	23	15287958	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1509288	15287958	139982602	907	126505											
POLA1	5422	broad.mit.edu	37	chrX	24734570	24734570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgtgcacaccgccaCggtaaagtgtgtagagatac	10	10	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:24734570C>T	uc004dbl.2	+	7	622	c.599C>T	c.(598-600)ACG>ATG	p.T200M	POLA1_uc004dbm.2_Missense_Mutation_p.T206M|POLA1_uc004dbn.2_Missense_Mutation_p.T64M	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	200					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			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CACACCGCCACGGTAAAGTGT	0.368													T	24734570	C	T	24734570	3	4	253	1	0	0	0	0	1	0	0	0	12187	550	19	1	625	1	POLA1	23	24734570	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	9446612	24734570	130535990	908	126506											
LANCL3	347404	broad.mit.edu	37	chrX	37515027	37515027	+	Frame_Shift_Del	DEL	C	C	-													ataaagaagaggaaaccattCcccctgatgtattcttacta							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:37515027delC	uc011mkd.1	+	2	962	c.660delC	c.(658-660)TTCfs	p.F220fs	LANCL3_uc004ddp.1_Frame_Shift_Del_p.F220fs	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	220							catalytic activity				0						GGAAACCATTCCCCCTGATGT	0.428													-	37515027	C	-	37515027	7	5	253	1	0	1	0	1	0	0	0	0	8622	854	30	0	666	0	LANCL3	23	37515027	Frame_Shift_Del	DEL	C	TCGA-HJ-7597-01A-21D-2201-08	12780457	37515027	117755533	909	126507											
BCOR	54880	broad.mit.edu	37	chrX	39937164	39937164	+	Frame_Shift_Del	DEL	G	G	-													gctgtgaacgttcccatacaGgggggttgctgagagcatgt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:39937163_39937163AG>A	uc004den.4	-	1	312	c.20_20CT>T	c.(19-21)ctgfs	p.L7fs	BCOR_uc004dep.4_Frame_Shift_Del_p.L7fs|BCOR_uc004deo.4_Frame_Shift_Del_p.L7fs|BCOR_uc004dem.4_Frame_Shift_Del_p.L7fs|BCOR_uc004deq.4_Frame_Shift_Del_p.L7fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	7					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						GTTCCCATACAGGGGGGTTGC	0.542			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39937164	G	-	39937164	7	5	253	1	0	1	0	1	0	0	0	0	1386	991	35	0	5304	0	BCOR	23	39937164	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	2422137	39937164	115333396	910	126508											
DDX3X	1654	broad.mit.edu	37	chrX	41205860	41205860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtattggtcgtacgggaCgtgtaggaaaccttggtaag	14	6	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:41205860C>T	uc004dfe.2	+	14	2455	c.1600C>T	c.(1600-1602)CGT>TGT	p.R534C	DDX3X_uc004dff.2_Missense_Mutation_p.R534C|DDX3X_uc011mkq.1_Missense_Mutation_p.R518C|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	534	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TCGTACGGGACGTGTAGGAAA	0.363										HNSCC(61;0.18)			T	41205860	C	T	41205860	3	4	253	1	0	0	0	0	1	0	0	0	4358	536	19	1	1654	1	DDX3X	23	41205860	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1268696	41205860	114064700	911	126509											
CDK16	5127	broad.mit.edu	37	chrX	47085981	47085981	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctttctctgatttccaGgcctggcccgagccaagtca	9	14	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:47085981G>T	uc004dho.2	+	10	1313	c.917_splice	c.e10-1	p.G306_splice	CDK16_uc011mli.1_Splice_Site_p.G312_splice|CDK16_uc011mlj.1_3'UTR|CDK16_uc011mlk.1_Splice_Site_p.G306_splice|CDK16_uc011mll.1_Splice_Site_p.G380_splice	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1								ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						CTGATTTCCAGGCCTGGCCCG	0.547													T	47085981	G	T	47085981	5	4	253	1	0	0	0	0	0	0	1	0	3132	1014	35	5	1192	5	CDK16	23	47085981	Splice_Site	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	5880121	47085981	108184579	912	126510											
USP11	8237	broad.mit.edu	37	chrX	47100030	47100030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatggcacttggcccagCgcacagctgcatgtcatgtg	12	11	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:47100030C>T	uc004dhp.2	+	6	855	c.855C>T	c.(853-855)AGC>AGT	p.S285S	USP11_uc004dhq.2_Silent_p.S12S	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	285					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CTTGGCCCAGCGCACAGCTGC	0.527													T	47100030	C	T	47100030	2	4	253	1	0	0	0	0	0	0	0	1	17039	767	27	1		1	USP11	23	47100030	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	14049	47100030	108170530	913	126511											
WDR13	64743	broad.mit.edu	37	chrX	48457775	48457775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgggccctgggggcccGtgggcaccgtcgttctgtca	15	15	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:48457775G>A	uc004dkh.1	+	4	464	c.317G>A	c.(316-318)CGT>CAT	p.R106H	WDR13_uc010nif.1_Translation_Start_Site|WDR13_uc004dki.1_Missense_Mutation_p.R14H|WDR13_uc004dkj.1_Missense_Mutation_p.R106H|WDR13_uc004dkk.1_Missense_Mutation_p.R14H|WDR13_uc004dkl.3_Missense_Mutation_p.R14H|WDR13_uc011mme.1_Translation_Start_Site	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	106						cytoplasm|nucleus				ovary(2)	2						CTGGGGGCCCGTGGGCACCGT	0.607													A	48457775	G	A	48457775	3	1	253	1	0	0	0	0	1	0	0	0	17272	1145	40	1	327	1	WDR13	23	48457775	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1357745	48457775	106812785	914	126512											
HDAC6	10013	broad.mit.edu	37	chrX	48674585	48674585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgcatcttgcggatcAtgtgccgtctggaggagctg	14	12	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:48674585A>G	uc011mmi.1	+	18	1626	c.1531A>G	c.(1531-1533)ATG>GTG	p.M511V	HDAC6_uc004dks.1_Missense_Mutation_p.M511V|HDAC6_uc010nig.1_Missense_Mutation_p.M359V|HDAC6_uc004dkt.1_Missense_Mutation_p.M511V|HDAC6_uc011mmk.1_Missense_Mutation_p.M492V|HDAC6_uc004dkv.1_Missense_Mutation_p.M159V|HDAC6_uc004dkw.1_Missense_Mutation_p.M159V	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	511	Histone deacetylase 2.				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			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	CTTGCGGATCATGTGCCGTCT	0.652													G	48674585	A	G	48674585	3	3	253	1	0	0	0	0	1	0	0	0	7011	217	8	3	1597	3	HDAC6	23	48674585	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	216810	48674585	106595975	915	126513											
KCND1	3750	broad.mit.edu	37	chrX	48826158	48826158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggattctcgaaggccCgccagagccgctgccgcagg	15	13	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:48826158C>T	uc004dlx.1	-	1	2094	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	174	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						CTCGAAGGCCCGCCAGAGCCG	0.652													T	48826158	C	T	48826158	3	4	253	1	0	0	0	0	1	0	0	0	8018	652	23	1	1446	1	KCND1	23	48826158	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	151573	48826158	106444402	916	126514											
DGKK	139189	broad.mit.edu	37	chrX	50129458	50129458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggtctatttgaggaaTgaagggcttcctatctgcct	11	7	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:50129458T>C	uc010njr.1	-	15	2305	c.2245A>G	c.(2245-2247)ATT>GTT	p.I749V		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	749					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			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					ATTTGAGGAATGAAGGGCTTC	0.468													C	50129458	T	C	50129458	3	2	253	1	0	0	0	0	1	0	0	0	4472	1464	51	3	1625	3	DGKK	23	50129458	Missense_Mutation	SNP	T	TCGA-HJ-7597-01A-21D-2201-08	1303300	50129458	105141102	917	126515											
TSPYL2	64061	broad.mit.edu	37	chrX	53111923	53111923	+	Frame_Shift_Del	DEL	G	G	-													ccctatgtcattctcgaggaGggggggatccgcgcatactt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:53111923delG	uc004drw.2	+	1	375	c.243delG	c.(241-243)GAGfs	p.E81fs	TSPYL2_uc004drv.2_Frame_Shift_Del_p.E81fs|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	81					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						TTCTCGAGGAGGGGGGGATCC	0.692													-	53111923	G	-	53111923	7	5	253	1	0	1	0	1	0	0	0	0	16657	991	35	0	245	0	TSPYL2	23	53111923	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	2982465	53111923	102158637	918	126516											
HUWE1	10075	broad.mit.edu	37	chrX	53562434	53562434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccattgggtttgaggtcaCgaacttcacaaactccaaac	7	13	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:53562434C>T	uc004dsp.2	-	81	12962	c.12560G>A	c.(12559-12561)CGT>CAT	p.R4187H	HUWE1_uc004dsn.2_Missense_Mutation_p.R2995H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4187	HECT.		R -> C (in MRXS-Turner).		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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TTTGAGGTCACGAACTTCACA	0.433													T	53562434	C	T	53562434	3	4	253	1	0	0	0	0	1	0	0	0	7461	536	19	1	580	1	HUWE1	23	53562434	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	450511	53562434	101708126	919	126517											
PHF8	23133	broad.mit.edu	37	chrX	54028591	54028591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaaagggctccataccgcGaaagatgtccaggatgtgct	13	10	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:54028591G>A	uc004dsu.2	-	10	1319	c.1246C>T	c.(1246-1248)CGC>TGC	p.R416C	PHF8_uc004dst.2_Missense_Mutation_p.R380C|PHF8_uc004dsv.2_Missense_Mutation_p.R246C|PHF8_uc004dsw.2_Missense_Mutation_p.R380C|PHF8_uc004dsx.2_Missense_Mutation_p.R144C|PHF8_uc004dsy.2_Missense_Mutation_p.R380C	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	416					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						TCCATACCGCGAAAGATGTCC	0.478													A	54028591	G	A	54028591	3	1	253	1	0	0	0	0	1	0	0	0	11840	1058	37	1	2158	1	PHF8	23	54028591	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	466157	54028591	101241969	920	126518											
STARD8	9754	broad.mit.edu	37	chrX	67940852	67940852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctgacaatgtctgctaCgagggccagtcagcctacga	11	13	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:67940852C>T	uc004dxa.2	+	8	2268	c.1896C>T	c.(1894-1896)TAC>TAT	p.Y632Y	STARD8_uc004dxb.2_Silent_p.Y712Y|STARD8_uc004dxc.3_Silent_p.Y632Y	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	632	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						ATGTCTGCTACGAGGGCCAGT	0.562													T	67940852	C	T	67940852	2	4	253	1	0	0	0	0	0	0	0	1	15262	547	19	1		1	STARD8	23	67940852	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	13912261	67940852	87329708	921	126519											
PJA1	64219	broad.mit.edu	37	chrX	68382735	68382735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccccataagagtcaatatgtCcataggccattcctcttctg	6	13	3	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:68382735C>A	uc004dxh.2	-	2	633	c.347G>T	c.(346-348)GGA>GTA	p.G116V	PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.G61V	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	116							zinc ion binding				0						GTCAATATGTCCATAGGCCAT	0.498													A	68382735	C	A	68382735	3	1	253	1	0	0	0	0	1	0	0	0	11961	855	30	5	1588	5	PJA1	23	68382735	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	441883	68382735	86887825	922	126520											
FOXO4	4303	broad.mit.edu	37	chrX	70321310	70321310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagtaagctggccacGggcgtcggcctgtgtcccaa	12	15	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:70321310G>A	uc004dys.1	+	2	1583	c.1230G>A	c.(1228-1230)ACG>ACA	p.T410T	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.T355T	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	410					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AGCTGGCCACGGGCGTCGGCC	0.622													A	70321310	G	A	70321310	2	1	253	1	0	0	0	0	0	0	0	1	6025	1103	39	1		1	FOXO4	23	70321310	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	1938575	70321310	84949250	923	126521											
UPRT	139596	broad.mit.edu	37	chrX	74520740	74520740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagctgtaaaggttcttAtagaacatggagttcaaccc	9	7	2	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:74520740A>G	uc004ecb.1	+	6	892	c.763A>G	c.(763-765)ATA>GTA	p.I255V	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.I255V|UPRT_uc004ece.1_Missense_Mutation_p.I119V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	255					nucleoside metabolic process	cytoplasm|nucleus					0						AAAGGTTCTTATAGAACATGG	0.373													G	74520740	A	G	74520740	3	3	253	1	0	0	0	0	1	0	0	0	17011	449	16	3	785	3	UPRT	23	74520740	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	4199430	74520740	80749820	924	126522											
XKRX	402415	broad.mit.edu	37	chrX	100183206	100183206	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaaatggaaaagtaaatcGggggttggctccacggatga	14	6	0	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:100183206G>A	uc004egn.2	-	1	693	c.88C>T	c.(88-90)CGA>TGA	p.R30*	XKRX_uc011mre.1_5'UTR	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	30						integral to membrane|plasma membrane				breast(1)	1						AAAGTAAATCGGGGGTTGGCT	0.443													A	100183206	G	A	100183206	4	1	253	1	0	0	0	0	0	1	0	0	17436	1124	39	1	1273	1	XKRX	23	100183206	Nonsense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	25662466	100183206	55087354	925	126523											
ARMCX5	64860	broad.mit.edu	37	chrX	101858244	101858244	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaaaatcaggggagtcatAtatacatcaagtttgtaaag	8	6	3	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:101858244A>T	uc004ejg.2	+	6	2056	c.1175A>T	c.(1174-1176)TAT>TTT	p.Y392F	ARMCX5_uc004ejh.2_Missense_Mutation_p.Y392F	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	392							binding			ovary(1)	1						GGGGAGTCATATATACATCAA	0.418													T	101858244	A	T	101858244	3	4	253	1	0	0	0	0	1	0	0	0	962	449	16	5	1177	5	ARMCX5	23	101858244	Missense_Mutation	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	1675038	101858244	53412316	926	126524											
BEX1	55859	broad.mit.edu	37	chrX	102317840	102317840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggattcagggcataaggcaAaactcatcatgatggtcatg	11	7	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:102317840A>G	uc004ejt.1	-	3	603	c.363T>C	c.(361-363)TTT>TTC	p.F121F		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	121					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1						GCATAAGGCAAAACTCATCAT	0.473													G	102317840	A	G	102317840	2	3	253	1	0	0	0	0	0	0	0	1	1410	11	1	3		3	BEX1	23	102317840	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	459596	102317840	52952720	927	126525											
NXF3	56000	broad.mit.edu	37	chrX	102334165	102334165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttccttgaacaccccGttgacagaaaagcagagcat	7	13	1	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:102334165G>A	uc004eju.2	-	16	1433	c.1362C>T	c.(1360-1362)AAC>AAT	p.N454N	NXF3_uc010noi.1_Silent_p.N304N	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	454	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TGAACACCCCGTTGACAGAAA	0.582													A	102334165	G	A	102334165	2	1	253	1	0	0	0	0	0	0	0	1	10785	1136	40	1		1	NXF3	23	102334165	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	16325	102334165	52936395	928	126526											
TBC1D8B	54885	broad.mit.edu	37	chrX	106109220	106109220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagattgttagatgaaaaCtctgattgccttataaactt	6	6	2	4			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:106109220C>T	uc004emo.2	+	16	2784	c.2619C>T	c.(2617-2619)AAC>AAT	p.N873N	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	873	EF-hand.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TAGATGAAAACTCTGATTGCC	0.373													T	106109220	C	T	106109220	2	4	253	1	0	0	0	0	0	0	0	1	15623	564	20	4		4	TBC1D8B	23	106109220	Silent	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3775055	106109220	49161340	929	126527											
COL4A6	1288	broad.mit.edu	37	chrX	107462975	107462975	+	Splice_Site	DEL	A	A	-													aggaactcccatgggaccctAaaaaaaggagtagggagagg							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:107462974_107462974TA>T	uc004enw.4	-	5	386	c.283_splice	c.e5-1	p.G95_splice	COL4A6_uc004env.4_Splice_Site_p.G94_splice|COL4A6_uc011msn.2_Splice_Site_p.G94_splice|COL4A6_uc010npk.3_Splice_Site_p.G94_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	95	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						CATGGGACCCTAAAAAAAGGA	0.423									Alport syndrome with Diffuse Leiomyomatosis				-	107462975	A	-	107462975	8	5	253	1	0	1	0	1	0	0	1	0	3695	377	13	0		0	COL4A6	23	107462975	Splice_Site	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	1353755	107462975	47807585	930	126528											
ALG13	79868	broad.mit.edu	37	chrX	110951472	110951472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctccctcttacccccaccCtgtacaaaatgcataaagga	4	16	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:110951472C>A	uc011msy.1	+	4	635	c.601C>A	c.(601-603)CTG>ATG	p.L201M	ALG13_uc011msw.1_Missense_Mutation_p.L123M|ALG13_uc011msx.1_Missense_Mutation_p.L97M|ALG13_uc011msz.1_Missense_Mutation_p.L123M|ALG13_uc011mta.1_Missense_Mutation_p.L97M|ALG13_uc011mtb.1_Missense_Mutation_p.L97M			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	201					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TACCCCCACCCTGTACAAAAT	0.458													A	110951472	C	A	110951472	3	1	253	1	0	0	0	0	1	0	0	0	515	680	24	5	757	5	ALG13	23	110951472	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	3488497	110951472	44319088	931	126529											
LONRF3	79836	broad.mit.edu	37	chrX	118109314	118109314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcgggccgccgaccggCgctgtgcgctgtgcggggtc	21	13	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:118109314C>T	uc004eqw.2	+	1	602	c.571C>T	c.(571-573)CGC>TGC	p.R191C	LONRF3_uc004eqx.2_Missense_Mutation_p.R191C|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	191	RING-type 1.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						CGCCGACCGGCGCTGTGCGCT	0.692													T	118109314	C	T	118109314	3	4	253	1	0	0	0	0	1	0	0	0	8896	768	27	1	573	1	LONRF3	23	118109314	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	7157842	118109314	37161246	932	126530											
BCORL1	63035	broad.mit.edu	37	chrX	129149422	129149422	+	Frame_Shift_Del	DEL	G	G	-													ctgaggggcaaccacggcctGggggctccttcgttccagag							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:129149422delG	uc004evb.1	+	4	2788	c.2674delG	c.(2674-2676)GGGfs	p.G892fs	BCORL1_uc010nrd.1_Frame_Shift_Del_p.G794fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	892					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ACCACGGCCTGGGGGCTCCTT	0.562													-	129149422	G	-	129149422	7	5	253	1	0	1	0	1	0	0	0	0	1387	1348	47	0	2684	0	BCORL1	23	129149422	Frame_Shift_Del	DEL	G	TCGA-HJ-7597-01A-21D-2201-08	11040108	129149422	26121138	933	126531											
F9	2158	broad.mit.edu	37	chrX	138643719	138643719	+	Frame_Shift_Del	DEL	A	A	-													ggagacagaacatacagagcAaaagcgaaatgtgattcgaa							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:138643718_138643718CA>C	uc004fas.1	+	7	903	c.874_874CA>C	c.(874-876)caafs	p.Q292fs	F9_uc004fat.1_Frame_Shift_Del_p.Q254fs	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	292	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|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)	ACATACAGAGCAAAAGCGAAA	0.343													-	138643719	A	-	138643719	7	5	253	1	0	1	0	1	0	0	0	0	5351	130	5	0	905	0	F9	23	138643719	Frame_Shift_Del	DEL	A	TCGA-HJ-7597-01A-21D-2201-08	9494297	138643719	16626841	934	126532											
FMR1	2332	broad.mit.edu	37	chrX	147030286	147030286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtagtcggctgcgcacGggtaaagatcgtaaccagaa	14	8	0	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:147030286G>A	uc010nst.2	+	17	2010	c.1821G>A	c.(1819-1821)ACG>ACA	p.T607T	FMR1_uc004fcj.2_Silent_p.T567T|FMR1_uc004fck.3_Silent_p.T561T|FMR1_uc004fcl.3_Silent_p.T447T|FMR1_uc011mxa.1_Silent_p.T237T	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	607	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCGCACGGGTAAAGATC	0.428									Fragile_X_syndrome				A	147030286	G	A	147030286	2	1	253	1	0	0	0	0	0	0	0	1	5960	1116	39	1		1	FMR1	23	147030286	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	8386567	147030286	8240274	935	126533											
PRRG3	79057	broad.mit.edu	37	chrX	150868590	150868592	+	In_Frame_Del	DEL	GAG	GAG	-													tggaggagatctgcagctacGaggaggtcaaggaagtgttt							TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:150868589_150868591CGAG>C	uc022cgt.1	+	2	178_180	c.129_131CGAG>C	c.(127-132)tacgag>taCg	p.E45del	PRRG3_uc004few.2_In_Frame_Del_p.E45del	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	45	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCAGCTACGAGGAGGTCAAG	0.557													-	150868592	GAG	-	150868590	7	5	253	1	0	1	0	1	0	0	0	0	12607	1059	37	0	136	0	PRRG3	23	150868590	In_Frame_Del	DEL	GAG	TCGA-HJ-7597-01A-21D-2201-08	3838304	150868590	4401970	936	126534											
MAGEA4	4103	broad.mit.edu	37	chrX	151092867	151092867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgtctatggggagcccaGgaaactgctcacccaagatt	10	12	2	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:151092867G>T	uc004fez.2	+	3	887	c.731G>T	c.(730-732)AGG>ATG	p.R244M	MAGEA4_uc004ffa.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffb.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffc.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffd.2_Missense_Mutation_p.R244M	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	244	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGCCCAGGAAACTGCTC	0.592													T	151092867	G	T	151092867	3	4	253	1	0	0	0	0	1	0	0	0	9168	1000	35	5	733	5	MAGEA4	23	151092867	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	224277	151092867	4177693	937	126535											
MAGEA3	4102	broad.mit.edu	37	chrX	151935285	151935285	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggaaatgtgaggtcctccActgatctttaccatatggtg	10	8	1	2			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:151935285A>G	uc004fgp.2	-	3	1091	c.882T>C	c.(880-882)AGT>AGC	p.S294S		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	294	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCCTCCACTGATCTTTA	0.552													G	151935285	A	G	151935285	2	3	253	1	0	0	0	0	0	0	0	1	9167	156	6	3		3	MAGEA3	23	151935285	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	842418	151935285	3335275	938	126536											
PLXNB3	5365	broad.mit.edu	37	chrX	153040418	153040418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccgcacctacgccgagCgcgccttcttccctggccat	8	19	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153040418C>T	uc004fii.2	+	24	4189	c.4015C>T	c.(4015-4017)CGC>TGC	p.R1339C	PLXNB3_uc010nuk.2_Missense_Mutation_p.R1362C|PLXNB3_uc011mzd.1_Missense_Mutation_p.R978C|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1339	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	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)					CTACGCCGAGCGCGCCTTCTT	0.701													T	153040418	C	T	153040418	3	4	253	1	0	0	0	0	1	0	0	0	12125	768	27	1	4223	1	PLXNB3	23	153040418	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	1105133	153040418	2230142	939	126537											
L1CAM	3897	broad.mit.edu	37	chrX	153128280	153128280	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatcggccaggctgtcgtcActgcccaggggcttgatgtc	13	12	1	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153128280A>G	uc004fjb.2	-	28	3720	c.3612T>C	c.(3610-3612)AGT>AGC	p.S1204S	L1CAM_uc004fjc.2_Silent_p.S1200S|L1CAM_uc010nuo.2_Silent_p.S1195S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1204	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					GGCTGTCGTCACTGCCCAGGG	0.597													G	153128280	A	G	153128280	2	3	253	1	0	0	0	0	0	0	0	1	8588	156	6	3		3	L1CAM	23	153128280	Silent	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	87862	153128280	2142280	940	126538											
L1CAM	3897	broad.mit.edu	37	chrX	153135593	153135593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcgccatcatcctcctcGcccactttcagcagctgcag	6	18	2	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153135593G>A	uc004fjb.2	-	8	1017	c.909C>T	c.(907-909)GGC>GGT	p.G303G	L1CAM_uc004fjc.2_Silent_p.G303G|L1CAM_uc010nuo.2_Silent_p.G298G|L1CAM_uc004fjd.1_Silent_p.G117G|L1CAM_uc004fje.1_Silent_p.G298G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	303	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					CATCCTCCTCGCCCACTTTCA	0.632													A	153135593	G	A	153135593	2	1	253	1	0	0	0	0	0	0	0	1	8588	1074	38	1		1	L1CAM	23	153135593	Silent	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	7313	153135593	2134967	941	126539											
AVPR2	554	broad.mit.edu	37	chrX	153171222	153171222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcctggccgacctggccGtggctctgttccaagtgctg	14	13	1	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153171222G>A	uc004fjh.3	+	2	333	c.262G>A	c.(262-264)GTG>ATG	p.V88M	AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Missense_Mutation_p.V88M	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	88	Helical; Name=2; (Potential).		V -> M (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGACCTGGCCGTGGCTCTGTT	0.677													A	153171222	G	A	153171222	3	1	253	1	0	0	0	0	1	0	0	0	1233	1145	40	1	268	1	AVPR2	23	153171222	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	35629	153171222	2099338	942	126540											
ARHGAP4	393	broad.mit.edu	37	chrX	153175255	153175255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgccgttgtgctcccccCgccaccagtcgctcgaggcc	11	19	0	0			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153175255C>T	uc004fjk.1	-	19	2396	c.2354G>A	c.(2353-2355)CGG>CAG	p.R785Q	ARHGAP4_uc004fjj.1_Missense_Mutation_p.R136Q|ARHGAP4_uc011mzf.1_Missense_Mutation_p.R762Q|ARHGAP4_uc004fjl.1_Missense_Mutation_p.R825Q|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	785	SH3.				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(1)	1	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)					GTGCTCCCCCCGCCACCAGTC	0.711													T	153175255	C	T	153175255	3	4	253	1	0	0	0	0	1	0	0	0	885	652	23	1	502	1	ARHGAP4	23	153175255	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	4033	153175255	2095305	943	126541											
HCFC1	3054	broad.mit.edu	37	chrX	153227068	153227068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgacgtcatccatgaCgagaggcacccagccaccaa	8	15	1	3			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153227068C>T	uc004fjp.2	-	6	1357	c.829G>A	c.(829-831)GTC>ATC	p.V277I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	277	Kelch 5.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCCATGACGAGAGGCACC	0.562													T	153227068	C	T	153227068	3	4	253	1	0	0	0	0	1	0	0	0	6991	536	19	1	5362	1	HCFC1	23	153227068	Missense_Mutation	SNP	C	TCGA-HJ-7597-01A-21D-2201-08	51813	153227068	2043492	944	126542											
IRAK1	3654	broad.mit.edu	37	chrX	153282398	153282398	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctcaagggcccctcctcAcctcttgatgtctccatgga	8	15	4	1			TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153282398A>G	uc004fjs.1	-	8	1107	c.1028_splice	c.e8+1	p.S343_splice	IRAK1_uc004fjr.1_Splice_Site_p.S343_splice|IRAK1_uc004fjt.1_Splice_Site_p.S343_splice|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Splice_Site_p.S369_splice	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1						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 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			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	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)					GCCCCTCCTCACCTCTTGATG	0.622													G	153282398	A	G	153282398	5	3	253	1	0	0	0	0	0	0	1	0	7821	173	6	3	1136	3	IRAK1	23	153282398	Splice_Site	SNP	A	TCGA-HJ-7597-01A-21D-2201-08	55330	153282398	1988162	945	126543											
PLXNA3	55558	broad.mit.edu	37	chrX	153691782	153691782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtatgagacagtccccGtggtggatggcagccccatc	12	13	0	1	rs143738443		TCGA-HJ-7597-01A-21D-2201-08	TCGA-HJ-7597-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ee062d-fdb6-4be6-8b39-9bf71779e3a0	bb03ccca-057f-49ae-8ca9-2aad7a5082b1	g.chrX:153691782G>A	uc004flm.2	+	5	1539	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	456	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					GACAGTCCCCGTGGTGGATGG	0.637													A	153691782	G	A	153691782	3	1	253	1	0	0	0	0	1	0	0	0	12121	1145	40	1	1380	1	PLXNA3	23	153691782	Missense_Mutation	SNP	G	TCGA-HJ-7597-01A-21D-2201-08	409384	153691782	1578778	946	126544											
SRRM1	10250	broad.mit.edu	37	chr1	24996743	24996743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcagtcaccgtctacaaaCtggtcaccagctgtaccggt	8	14	4	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:24996743C>A	uc001bjm.2	+	15	2561	c.2337C>A	c.(2335-2337)AAC>AAA	p.N779K	SRRM1_uc010oel.1_Missense_Mutation_p.N791K|SRRM1_uc009vri.1_Missense_Mutation_p.N708K	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	779	Pro-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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		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)		CGTCTACAAACTGGTCACCAG	0.547													A	24996743	C	A	24996743	3	1	254	1	0	0	0	0	1	0	0	0	15167	564	20	5	2395	5	SRRM1	1	24996743	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		24996743	224253878	1	126545											
C1orf113	79729	broad.mit.edu	37	chr1	36785295	36785295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagagcacagcagccCggtaaaggccccctctgtga	14	12	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:36785295C>T	uc010oia.1	+	14	1059	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	C1orf113_uc010oib.1_Missense_Mutation_p.P233L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_5'UTR	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	228											0		Myeloproliferative disorder(586;0.0393)				CACAGCAGCCCGGTAAAGGCC	0.622													T	36785295	C	T	36785295	3	4	254	1	0	0	0	0	1	0	0	0	1986	652	23	1	1085	1	C1orf113	1	36785295	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	11788552	36785295	212465326	2	126546											
GRIK3	2899	broad.mit.edu	37	chr1	37346293	37346293	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaggtactggaccaggtcGaggatggcatggctgagcga	17	7	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:37346293G>A	uc001caz.2	-	3	627	c.492C>T	c.(490-492)CTC>CTT	p.L164L	GRIK3_uc001cba.1_Silent_p.L164L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	164	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGACCAGGTCGAGGATGGCAT	0.622													A	37346293	G	A	37346293	2	1	254	1	0	0	0	0	0	0	0	1	6775	1045	37	1		1	GRIK3	1	37346293	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	560998	37346293	211904328	3	126547											
MFSD2A	84879	broad.mit.edu	37	chr1	40433537	40433537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacctcatcattacatatgCggtagctgtggcagctggca	10	10	2	0	rs139973362		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:40433537C>T	uc001cev.2	+	11	1377	c.1196C>T	c.(1195-1197)GCG>GTG	p.A399V	MFSD2A_uc010ojb.1_Missense_Mutation_p.A347V|MFSD2A_uc001ceu.2_Missense_Mutation_p.A386V|MFSD2A_uc010ojc.1_Missense_Mutation_p.A230V|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Missense_Mutation_p.A50V	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	399	Helical; (Potential).				transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						ATTACATATGCGGTAGCTGTG	0.557													T	40433537	C	T	40433537	3	4	254	1	0	0	0	0	1	0	0	0	9530	768	27	1	1238	1	MFSD2A	1	40433537	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	3087244	40433537	208817084	4	126548											
TMEM61	199964	broad.mit.edu	37	chr1	55457702	55457702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccttgctcttgatgccGtttctgcggagacgacaccg	11	13	3	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:55457702G>A	uc001cyd.2	+	3	833	c.559G>A	c.(559-561)GTT>ATT	p.V187I		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	187						integral to membrane					0						TCTTGATGCCGTTTCTGCGGA	0.617													A	55457702	G	A	55457702	3	1	254	1	0	0	0	0	1	0	0	0	16185	1145	40	1	569	1	TMEM61	1	55457702	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	15024165	55457702	193792919	5	126549											
TACSTD2	4070	broad.mit.edu	37	chr1	59042367	59042367	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtggcgcaggtcaatgagGatgtggtgggtgcgcaccag	19	8	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:59042367G>A	uc001cyz.3	-	1	800	c.462C>T	c.(460-462)ATC>ATT	p.I154I		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	154	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					GGTCAATGAGGATGTGGTGGG	0.687													A	59042367	G	A	59042367	2	1	254	1	0	0	0	0	0	0	0	1	15505	1164	41	4		4	TACSTD2	1	59042367	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	3584665	59042367	190208254	6	126550											
GSTM2	2946	broad.mit.edu	37	chr1	110211979	110211979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcggtacattgcccGcaagcacaacctgtgtgagt	10	13	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:110211979G>A	uc001dyi.2	+	4	559	c.245G>A	c.(244-246)CGC>CAC	p.R82H	GSTM2_uc001dyj.2_Missense_Mutation_p.R82H|GSTM2_uc010ovt.1_Missense_Mutation_p.R82H|GSTM2_uc009wfk.2_RNA	NM_000848	NP_000839	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 isoform 1	82	GST N-terminal.				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity				0		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)	TACATTGCCCGCAAGCACAAC	0.572													A	110211979	G	A	110211979	3	1	254	1	0	0	0	0	1	0	0	0	6838	1087	38	1	259	1	GSTM2	1	110211979	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	51169612	110211979	139038642	7	126551											
IL6R	3570	broad.mit.edu	37	chr1	154407589	154407589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacagactacggtttgagcTcagatatcgggctgaacggt	12	9	1	4			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:154407589T>G	uc001fez.1	+	5	1201	c.764T>G	c.(763-765)CTC>CGC	p.L255R	IL6R_uc001ffa.1_Missense_Mutation_p.L255R	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	255	Fibronectin type-III.|Extracellular (Potential).				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 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			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGTTTGAGCTCAGATATCGG	0.483													G	154407589	T	G	154407589	3	3	254	1	0	0	0	0	1	0	0	0	7702	1551	54	5	782	5	IL6R	1	154407589	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	44195610	154407589	94843032	8	126552											
KIRREL	55243	broad.mit.edu	37	chr1	158064879	158064879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcactcggactacggccagcGattccagcagcgcatgcaga	12	14	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:158064879G>A	uc001frn.3	+	15	2647	c.2243G>A	c.(2242-2244)CGA>CAA	p.R748Q	KIRREL_uc010pib.1_Missense_Mutation_p.R648Q|KIRREL_uc009wsq.2_Missense_Mutation_p.R584Q|KIRREL_uc001fro.3_Missense_Mutation_p.R562Q|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	748	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					TACGGCCAGCGATTCCAGCAG	0.607													A	158064879	G	A	158064879	3	1	254	1	0	0	0	0	1	0	0	0	8324	1058	37	1	2301	1	KIRREL	1	158064879	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	3657290	158064879	91185742	9	126553											
OR6K6	128371	broad.mit.edu	37	chr1	158724691	158724691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacagatgacacagttgaCggccagtgggaatcagacaa	11	9	2	4	rs142721506		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:158724691C>T	uc001fsw.1	+	1	86	c.86C>T	c.(85-87)ACG>ATG	p.T29M		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	29	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					ACACAGTTGACGGCCAGTGGG	0.433													T	158724691	C	T	158724691	3	4	254	1	0	0	0	0	1	0	0	0	11204	536	19	1	88	1	OR6K6	1	158724691	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	659812	158724691	90525930	10	126554											
ATP1A4	480	broad.mit.edu	37	chr1	160146308	160146308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttatgagtcagctgaaagcGacatcatgaagaggcttcca	10	9	2	4			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:160146308G>A	uc001fve.3	+	17	2985	c.2506G>A	c.(2506-2508)GAC>AAC	p.D836N	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.D339N|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	836	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCTGAAAGCGACATCATGAA	0.527													A	160146308	G	A	160146308	3	1	254	1	0	0	0	0	1	0	0	0	1131	1058	37	1	2572	1	ATP1A4	1	160146308	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	1421617	160146308	89104313	11	126555											
GPR161	23432	broad.mit.edu	37	chr1	168074014	168074014	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaactgggtgatgatgacGcccccttcgccaccctcctc	9	16	0	4	rs115455892	byFrequency	TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:168074014G>T	uc001gfc.2	-	4	389	c.75C>A	c.(73-75)GGC>GGA	p.G25G	GPR161_uc001gfb.2_Intron|GPR161_uc010pll.1_Intron|GPR161_uc010plm.1_Intron|GPR161_uc009wvo.2_Silent_p.G42G|GPR161_uc001gfd.2_Silent_p.G25G|GPR161_uc010pln.1_Silent_p.G45G|GPR161_uc001gfe.1_Silent_p.G25G	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	25	Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					TGATGATGACGCCCCCTTCGC	0.562													T	168074014	G	T	168074014	2	4	254	1	0	0	0	0	0	0	0	1	6665	1074	38	5		5	GPR161	1	168074014	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	7927706	168074014	81176607	12	126556											
CFHR2	3080	broad.mit.edu	37	chr1	196920153	196920153	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cactcctcccaaatgcaggtCcactagtaagtgcaatgttg	8	12	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr1:196920153C>G	uc001gtq.1	+	3	502	c.425C>G	c.(424-426)TCC>TGC	p.S142C	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	142	Sushi 2.					extracellular region				skin(2)|ovary(1)	3						AAATGCAGGTCCACTAGTAAG	0.338													G	196920153	C	G	196920153	3	3	254	1	0	0	0	0	1	0	0	0	3285	855	30	5	435	5	CFHR2	1	196920153	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	28846139	196920153	52330468	13	126557											
GREB1	9687	broad.mit.edu	37	chr2	11774338	11774338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgacatcatgcactaCgccctgctgggcctgcggaa	11	17	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:11774338C>T	uc002rbk.1	+	29	5373	c.5073C>T	c.(5071-5073)TAC>TAT	p.Y1691Y	GREB1_uc002rbp.1_Silent_p.Y689Y	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1691						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATGCACTACGCCCTGCTGG	0.612													T	11774338	C	T	11774338	2	4	254	1	0	0	0	0	0	0	0	1	6760	547	19	1		1	GREB1	2	11774338	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08		11774338	231425035	14	126558											
DHX57	90957	broad.mit.edu	37	chr2	39040977	39040977	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgttacctgcactacatttgGatacaaagcagcacacagca	7	11	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:39040977G>C	uc002rrf.2	-	21	3766	c.3667C>G	c.(3667-3669)CCA>GCA	p.P1223A	DHX57_uc002rrd.3_Missense_Mutation_p.P607A|DHX57_uc002rre.2_Missense_Mutation_p.P656A	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1223							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				ACTACATTTGGATACAAAGCA	0.363													C	39040977	G	C	39040977	3	2	254	1	0	0	0	0	1	0	0	0	4513	1174	41	5	509	5	DHX57	2	39040977	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	27266639	39040977	204158396	15	126559											
CTNNA2	1496	broad.mit.edu	37	chr2	80835419	80835419	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagaagtgcagaatctGggaggagagctcattgtgtc	15	6	2	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:80835419G>T	uc010ysh.1	+	16	2411	c.2406G>T	c.(2404-2406)CTG>CTT	p.L802L	CTNNA2_uc010yse.1_Silent_p.L802L|CTNNA2_uc010ysf.1_Silent_p.L802L|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Silent_p.L434L|CTNNA2_uc010ysj.1_Silent_p.L131L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	802					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGCAGAATCTGGGAGGAGAGC	0.468													T	80835419	G	T	80835419	2	4	254	1	0	0	0	0	0	0	0	1	4013	1335	47	5		5	CTNNA2	2	80835419	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	41794442	80835419	162363954	16	126560											
CNTNAP5	129684	broad.mit.edu	37	chr2	125405450	125405450	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tacgggggcagcatggaacaGctggaggccgtgatcgacgg	18	9	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:125405450G>C	uc002tno.2	+	13	2353	c.1989G>C	c.(1987-1989)CAG>CAC	p.Q663H	CNTNAP5_uc010flu.2_Missense_Mutation_p.Q664H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	663	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCATGGAACAGCTGGAGGCCG	0.622													C	125405450	G	C	125405450	3	2	254	1	0	0	0	0	1	0	0	0	3650	962	34	5	2039	5	CNTNAP5	2	125405450	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	44570031	125405450	117793923	17	126561											
TBR1	10716	broad.mit.edu	37	chr2	162274733	162274733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcgggtctatatgcatcCggattcccccaacactgggg	10	12	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:162274733C>T	uc002ubw.1	+	3	1171	c.869C>T	c.(868-870)CCG>CTG	p.P290L	TBR1_uc010foy.2_Missense_Mutation_p.P3L	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	290	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TATATGCATCCGGATTCCCCC	0.443													T	162274733	C	T	162274733	3	4	254	1	0	0	0	0	1	0	0	0	15644	652	23	1	879	1	TBR1	2	162274733	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	36869283	162274733	80924640	18	126562											
KCNH7	90134	broad.mit.edu	37	chr2	163302875	163302875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgccttgaaagggctgtAgtgcaatatcgtaaacttgt	11	7	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:163302875A>G	uc002uch.1	-	7	1419	c.1207T>C	c.(1207-1209)TAC>CAC	p.Y403H	KCNH7_uc002uci.2_Missense_Mutation_p.Y396H	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	403	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AAAGGGCTGTAGTGCAATATC	0.448													G	163302875	A	G	163302875	3	3	254	1	0	0	0	0	1	0	0	0	8037	420	15	3	2489	3	KCNH7	2	163302875	Missense_Mutation	SNP	A	TCGA-HU-8243-01A-11D-2340-08	1028142	163302875	79896498	19	126563											
KCTD18	130535	broad.mit.edu	37	chr2	201357899	201357899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacagcatagataacctctTtcgaattggagccatgtgac	8	10	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:201357899T>C	uc002uvs.2	-	6	1277	c.760A>G	c.(760-762)AAG>GAG	p.K254E	KCTD18_uc002uvt.2_Missense_Mutation_p.K254E	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	254						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						GATAACCTCTTTCGAATTGGA	0.408													C	201357899	T	C	201357899	3	2	254	1	0	0	0	0	1	0	0	0	8105	1850	64	3	528	3	KCTD18	2	201357899	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	38055024	201357899	41841474	20	126564											
CXCR7	57007	broad.mit.edu	37	chr2	237489189	237489189	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaacagcagcgactgcatCgtggtggacacggtgatgtg	15	9	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr2:237489189C>T	uc010fyq.2	+	3	311	c.81C>T	c.(79-81)ATC>ATT	p.I27I	CXCR7_uc002vwd.2_Silent_p.I27I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	27	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCGACTGCATCGTGGTGGACA	0.522													T	237489189	C	T	237489189	2	4	254	1	0	0	0	0	0	0	0	1	4096	874	31	1		1	CXCR7	2	237489189	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	36131290	237489189	5710184	21	126565											
GRM7	2917	broad.mit.edu	37	chr3	6903381	6903381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccaacgtgacgctgggCgcgcggatcctggacacttg	14	14	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:6903381C>T	uc003bqm.2	+	1	580	c.306C>T	c.(304-306)GGC>GGT	p.G102G	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G102G|GRM7_uc003bql.2_Silent_p.G102G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	102	Extracellular (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TGACGCTGGGCGCGCGGATCC	0.587													T	6903381	C	T	6903381	2	4	254	1	0	0	0	0	0	0	0	1	6802	755	27	1		1	GRM7	3	6903381	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08		6903381	191119049	22	126566											
PPM1M	132160	broad.mit.edu	37	chr3	52282219	52282220	+	Frame_Shift_Ins	INS	-	-	CC													ccactgagcttcgagttcacINScccagagactgagcggcagc							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:52282218_52282219A>ACC	uc011bed.2	+	4	792_793	c.760_761A>ACC	c.(760-762)accfs	p.T254fs	PPM1M_uc003ddf.4_Frame_Shift_Ins_p.T93fs|PPM1M_uc003ddg.4_Frame_Shift_Ins_p.T42fs|PPM1M_uc003ddh.4_5'Flank	NM_144641	NP_653242	Q96MI6	PPM1M_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1M (PPM1M), transcript variant 1, mRNA.	93					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		CTTCGAGTTCACCCCAGAGACT	0.604													CC	52282220	-	CC	52282219	7	5	254	1	0	1	1	0	0	0	0	0	12345	507	18	0	288	0	PPM1M	3	52282219	Frame_Shift_Ins	INS	-	TCGA-HU-8243-01A-11D-2340-08	45378838	52282219	145740211	23	126567											
ROBO2	6092	broad.mit.edu	37	chr3	77607240	77607240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagggatttacttttccGggtagagatccaagagcaac	12	7	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:77607240G>A	uc003dpy.3	+	9	2020	c.1377G>A	c.(1375-1377)CCG>CCA	p.P459P	ROBO2_uc003dpz.2_Silent_p.P463P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.P463P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	459	Ig-like C2-type 5.|Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		TTACTTTTCCGGGTAGAGATC	0.418													A	77607240	G	A	77607240	2	1	254	1	0	0	0	0	0	0	0	1	13514	1103	39	1		1	ROBO2	3	77607240	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	25325021	77607240	120415190	24	126568											
PLXNA1	5361	broad.mit.edu	37	chr3	126707595	126707595	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcgactggggcctcacccaCctagtggtgcatgagcagac	13	13	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:126707595C>G	uc003ejg.2	+	1	94	c.90C>G	c.(88-90)CAC>CAG	p.H30Q		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	53	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCCTCACCCACCTAGTGGTGC	0.647													G	126707595	C	G	126707595	3	3	254	1	0	0	0	0	1	0	0	0	12119	506	18	5	161	5	PLXNA1	3	126707595	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	49100355	126707595	71314835	25	126569											
NMD3	51068	broad.mit.edu	37	chr3	160964220	160964220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacatcttctaaatcccGgagacctggtgttagggttt	12	8	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:160964220G>A	uc003feb.1	+	12	1233	c.1114G>A	c.(1114-1116)GGA>AGA	p.G372R	NMD3_uc003fec.2_Missense_Mutation_p.G372R|NMD3_uc003fed.1_Missense_Mutation_p.G372R|NMD3_uc010hwh.2_Missense_Mutation_p.G192R	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	372					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCTAAATCCCGGAGACCTGGT	0.368													A	160964220	G	A	160964220	3	1	254	1	0	0	0	0	1	0	0	0	10488	1117	39	1	1156	1	NMD3	3	160964220	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	34256625	160964220	37058210	26	126570											
CHRD	8646	broad.mit.edu	37	chr3	184101158	184101158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccagacgggtgctgcCggctcagccagcctcacgct	12	17	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr3:184101158C>T	uc003fov.2	+	11	1518	c.1272C>T	c.(1270-1272)GCC>GCT	p.A424A	CHRD_uc003fow.2_Silent_p.A54A|CHRD_uc003fox.2_Silent_p.A424A|CHRD_uc003foy.2_Silent_p.A54A|CHRD_uc010hyc.2_Silent_p.A54A|CHRD_uc011brr.1_Silent_p.A54A	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	424	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			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGGTGCTGCCGGCTCAGCCA	0.627													T	184101158	C	T	184101158	2	4	254	1	0	0	0	0	0	0	0	1	3372	639	23	1		1	CHRD	3	184101158	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	23136938	184101158	13921272	27	126571											
KCTD8	386617	broad.mit.edu	37	chr4	44450414	44450414	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcagctccactacttcagGgaagggcgagggtgcgcagg	16	10	2	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:44450414G>C	uc003gwu.2	-	1	411	c.127C>G	c.(127-129)CCT>GCT	p.P43A		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	43						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P43L(1)		central_nervous_system(2)|ovary(1)	3						ACTACTTCAGGGAAGGGCGAG	0.498										HNSCC(17;0.042)			C	44450414	G	C	44450414	3	2	254	1	0	0	0	0	1	0	0	0	8115	1232	43	5	1302	5	KCTD8	4	44450414	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08		44450414	146703862	28	126572											
ANKRD17	26057	broad.mit.edu	37	chr4	74005554	74005554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacttgctgtaaccgtgCatagtctccctcagaaagct	7	13	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:74005554C>T	uc003hgp.2	-	15	2896	c.2779G>A	c.(2779-2781)GCA>ACA	p.A927T	ANKRD17_uc003hgo.2_Missense_Mutation_p.A814T|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.A927T|ANKRD17_uc011cbd.1_Missense_Mutation_p.A492T	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	927	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			TGTAACCGTGCATAGTCTCCC	0.493													T	74005554	C	T	74005554	3	4	254	1	0	0	0	0	1	0	0	0	646	710	25	2	5112	2	ANKRD17	4	74005554	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	29555140	74005554	117148722	29	126573											
PCDH10	57575	broad.mit.edu	37	chr4	134073626	134073626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccgccaagcccgggcGcgcaagaagaaactcagcaa	13	13	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:134073626G>A	uc003iha.2	+	1	3157	c.2331G>A	c.(2329-2331)GCG>GCA	p.A777A	PCDH10_uc003igz.2_Silent_p.A777A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	777	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAGCCCGGGCGCGCAAGAAGA	0.602													A	134073626	G	A	134073626	2	1	254	1	0	0	0	0	0	0	0	1	11507	1074	38	1		1	PCDH10	4	134073626	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	60068072	134073626	57080650	30	126574											
DCHS2	54798	broad.mit.edu	37	chr4	155156232	155156232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgctctcttttgccTctctcttctgaactgtctgg	8	13	5	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr4:155156232T>A	uc003inw.2	-	25	8207	c.8207A>T	c.(8206-8208)GAG>GTG	p.E2736V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2736					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCTTTTGCCTCTCTCTTCTG	0.483													A	155156232	T	A	155156232	3	1	254	1	0	0	0	0	1	0	0	0	4288	1551	54	5	547	5	DCHS2	4	155156232	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	21082606	155156232	35998044	31	126575											
FBXL7	23194	broad.mit.edu	37	chr5	15928122	15928122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccatcaccggggagaCggtggccatggtgcactccc	13	15	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:15928122C>T	uc003jfn.1	+	3	732	c.251C>T	c.(250-252)ACG>ATG	p.T84M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	84					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						ACCGGGGAGACGGTGGCCATG	0.662													T	15928122	C	T	15928122	3	4	254	1	0	0	0	0	1	0	0	0	5724	536	19	1	261	1	FBXL7	5	15928122	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		15928122	164987138	32	126576											
DMGDH	29958	broad.mit.edu	37	chr5	78329126	78329126	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgggttgttgtccatttGccatagcgattaggatccaa	10	8	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:78329126G>T	uc003kfs.2	-	8	1305	c.1299C>A	c.(1297-1299)GGC>GGA	p.G433G	DMGDH_uc011cte.1_Silent_p.G283G|DMGDH_uc011ctf.1_Silent_p.G232G|DMGDH_uc011ctg.1_Silent_p.G53G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	433					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGTCCATTTGCCATAGCGAT	0.428													T	78329126	G	T	78329126	2	4	254	1	0	0	0	0	0	0	0	1	4581	1306	46	5		5	DMGDH	5	78329126	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	62401004	78329126	102586134	33	126577											
APC	324	broad.mit.edu	37	chr5	112179441	112179441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttcccatgcgtaccgtggGtttggaaaatcgcctgaact	11	10	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:112179441G>C	uc010jby.2	+	16	8530	c.8150G>C	c.(8149-8151)GGT>GCT	p.G2717A	APC_uc011cvt.1_Missense_Mutation_p.G2699A|APC_uc003kpz.3_Missense_Mutation_p.G2717A|APC_uc003kpy.3_Missense_Mutation_p.G2717A|APC_uc010jbz.2_Missense_Mutation_p.G2434A|APC_uc010jca.2_Missense_Mutation_p.G2017A	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2717	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)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		CGTACCGTGGGTTTGGAAAAT	0.418		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			C	112179441	G	C	112179441	3	2	254	1	0	0	0	0	1	0	0	0	763	1261	44	5	8208	5	APC	5	112179441	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	33850315	112179441	68735819	34	126578											
PCDHA4	56144	broad.mit.edu	37	chr5	140188818	140188818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcctcctcacgggcGttggtgggcgctgtgggtcc	16	13	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:140188818G>A	uc003lhi.2	+	1	2147	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A682A|PCDHA4_uc011daa.1_Silent_p.A682A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637													A	140188818	G	A	140188818	2	1	254	1	0	0	0	0	0	0	0	1	11526	1132	40	1		1	PCDHA4	5	140188818	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	28009377	140188818	40726442	35	126579											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731844	140731844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtattgccagacctcagcGaccgccctgagccctctgac	10	16	2	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:140731844G>A	uc003ljo.1	+	1	2017	c.2017G>A	c.(2017-2019)GAC>AAC	p.D673N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.D673N|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	673	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTCAGCGACCGCCCTGA	0.607													A	140731844	G	A	140731844	3	1	254	1	0	0	0	0	1	0	0	0	11562	1058	37	1	2019	1	PCDHGB1	5	140731844	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	543026	140731844	40183416	36	126580											
SCGB3A2	117156	broad.mit.edu	37	chr5	147261134	147261134	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaactctgggcatttctgttGagcaccttgtggaggggcta	13	8	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:147261134G>C	uc003lot.1	+	2	274	c.181G>C	c.(181-183)GAG>CAG	p.E61Q		NM_054023	NP_473364	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2 precursor	61						extracellular region	binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTCTGTTGAGCACCTTGT	0.483													C	147261134	G	C	147261134	3	2	254	1	0	0	0	0	1	0	0	0	13901	1291	45	5	187	5	SCGB3A2	5	147261134	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	6529290	147261134	33654126	37	126581											
KIF4B	285643	broad.mit.edu	37	chr5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtacagttaatgcGtcaaatgaaagaggatgctg	13	7	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:154395374G>A	uc010jih.1	+	1	2115	c.1955G>A	c.(1954-1956)CGT>CAT	p.R652H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													A	154395374	G	A	154395374	3	1	254	1	0	0	0	0	1	0	0	0	8304	1145	40	1	1957	1	KIF4B	5	154395374	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	7134240	154395374	26519886	38	126582											
EBF1	1879	broad.mit.edu	37	chr5	158250212	158250212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataagagggcgtaccttcCgaggggtcaagcctccgagc	14	11	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:158250212C>T	uc010jip.2	-	8	1052	c.750G>A	c.(748-750)TCG>TCA	p.S250S	EBF1_uc011ddw.1_Silent_p.S117S|EBF1_uc011ddx.1_Silent_p.S250S|EBF1_uc003lxl.3_Silent_p.S227S	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	250					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	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)			GCGTACCTTCCGAGGGGTCAA	0.468			T	HMGA2	lipoma								T	158250212	C	T	158250212	2	4	254	1	0	0	0	0	0	0	0	1	4880	639	23	1		1	EBF1	5	158250212	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	3854838	158250212	22665048	39	126583											
HMP19	51617	broad.mit.edu	37	chr5	173534384	173534384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccccaattccagaagccGcttctacacagtcatcagcc	7	16	3	1	rs147555850		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr5:173534384G>A	uc003mcx.2	+	5	537	c.392G>A	c.(391-393)CGC>CAC	p.R131H	HMP19_uc011dfh.1_Missense_Mutation_p.A35T	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	131	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCAGAAGCCGCTTCTACACA	0.592													A	173534384	G	A	173534384	3	1	254	1	0	0	0	0	1	0	0	0	7245	1087	38	1	406	1	HMP19	5	173534384	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	15284172	173534384	7380876	40	126584											
RNF182	221687	broad.mit.edu	37	chr6	13977677	13977677	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaaccctactgagctgctGctcacccccaagaggctggc	11	15	1	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:13977677G>T	uc003nbe.2	+	3	745	c.327G>T	c.(325-327)CTG>CTT	p.L109L	RNF182_uc003nbf.2_Silent_p.L109L|RNF182_uc003nbg.2_Silent_p.L109L	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	109						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CTGAGCTGCTGCTCACCCCCA	0.542													T	13977677	G	T	13977677	2	4	254	1	0	0	0	0	0	0	0	1	13466	1306	46	5		5	RNF182	6	13977677	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08		13977677	157137390	41	126585											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-													cgcttgcgcttcttgccatcCttcttctgcgccttggtcac							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:26216796_26216798CCTT>C	uc003ngz.2	-	0	75_77	c.74_76AAGG>G	c.(73-78)aaggat>aGat	p.25_26KD>R	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	25					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)				TTCTTGCCATCCTTCTTCTGCGC	0.517													-	26216799	CTT	-	26216797	7	5	254	1	0	1	0	1	0	0	0	0	7146	680	24	0	309	0	HIST1H2BG	6	26216797	In_Frame_Del	DEL	CTT	TCGA-HU-8243-01A-11D-2340-08	12239120	26216797	144898270	42	126586											
DOM3Z	1797	broad.mit.edu	37	chr6	31938777	31938809	+	In_Frame_Del	DEL	CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC	CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC	-													agcctctgggcccgagcgttCggtgtctccacttcactcag							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:31938776_31938808TCGGTGTCTCCACTTCACTCAGGTATAGTGTTCC>T	uc003nyp.1	-	2	806_838	c.473_505GGAACACTATACCTGAGTGAAGTGGAGACACCGA>A	c.(472-507)ggaacactatacctgagtgaagtggagacaccgaac>gAac	p.158_169GTLYLSEVETPN>E	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	158							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCCCGAGCGTTCGGTGTCTCCACTTCACTCAGGTATAGTGTTCCCTGGAACCG	0.601													-	31938809	CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC	-	31938777	7	5	254	1	0	1	0	1	0	0	0	0	4705	871	31	0	706	0	DOM3Z	6	31938777	In_Frame_Del	DEL	CGGTGTCTCCACTTCACTCAGGTATAGTGTTCC	TCGA-HU-8243-01A-11D-2340-08	5721980	31938777	139176290	43	126587											
C6orf81	221481	broad.mit.edu	37	chr6	35705833	35705833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcgagagcggcacgggCgggactcaggtgagctccgg	19	11	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:35705833C>T	uc003ola.2	+	2	301	c.274C>T	c.(274-276)CGG>TGG	p.R92W	LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Missense_Mutation_p.R65W	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	65							binding			ovary(1)	1						GCGGCACGGGCGGGACTCAGG	0.572											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	35705833	C	T	35705833	3	4	254	1	0	0	0	0	1	0	0	0	2372	759	27	1	280	1	C6orf81	6	35705833	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	3767056	35705833	135409234	44	126588											
EFHC1	114327	broad.mit.edu	37	chr6	52288904	52288904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccagtcttaacttatgGccaacctaaacaagccccac	6	15	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:52288904G>A	uc003pap.3	+	2	439	c.224G>A	c.(223-225)GGC>GAC	p.G75D	EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Missense_Mutation_p.G56D	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	75						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TTAACTTATGGCCAACCTAAA	0.512													A	52288904	G	A	52288904	3	1	254	1	0	0	0	0	1	0	0	0	4946	1203	42	2	240	2	EFHC1	6	52288904	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	16583071	52288904	118826163	45	126589											
BMP5	653	broad.mit.edu	37	chr6	55638913	55638913	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcggttttgattttttcGtttgttggctgctctcacgg	11	7	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:55638913G>A	uc003pcq.2	-	4	1673	c.961C>T	c.(961-963)CGA>TGA	p.R321*	BMP5_uc011dxf.1_Nonsense_Mutation_p.R321*	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGATTTTTTCGTTTGTTGGCT	0.473													A	55638913	G	A	55638913	4	1	254	1	0	0	0	0	0	1	0	0	1463	1153	40	1	419	1	BMP5	6	55638913	Nonsense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	3350009	55638913	115476154	46	126590											
ZNF292	23036	broad.mit.edu	37	chr6	87971420	87971420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaaatgaaacctacCgtcagtctgaaaaaacttga	7	9	3	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:87971420C>T	uc003plm.3	+	8	8114	c.8073C>T	c.(8071-8073)ACC>ACT	p.T2691T		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		TGAAACCTACCGTCAGTCTGA	0.363													T	87971420	C	T	87971420	2	4	254	1	0	0	0	0	0	0	0	1	17823	639	23	1		1	ZNF292	6	87971420	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	32332507	87971420	83143647	47	126591											
NMBR	4829	broad.mit.edu	37	chr6	142409655	142409655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgagcaggtagagggaCgggatcacacagcggatcac	15	8	2	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr6:142409655C>T	uc003qiu.2	-	1	282	c.141G>A	c.(139-141)CCG>CCA	p.P47P		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	47	Helical; Name=1; (Potential).				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			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGTAGAGGGACGGGATCACAC	0.602													T	142409655	C	T	142409655	2	4	254	1	0	0	0	0	0	0	0	1	10487	523	19	1		1	NMBR	6	142409655	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	54438235	142409655	28705412	48	126592											
SDK1	221935	broad.mit.edu	37	chr7	4007048	4007048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccggggctcccaaacccGccatcacctggaaaagaggt	11	14	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:4007048G>A	uc003smx.2	+	10	1667	c.1528G>A	c.(1528-1530)GCC>ACC	p.A510T		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	510	Ig-like C2-type 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		TCCCAAACCCGCCATCACCTG	0.547													A	4007048	G	A	4007048	3	1	254	1	0	0	0	0	1	0	0	0	13968	1087	38	1	1566	1	SDK1	7	4007048	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08		4007048	155131615	49	126593											
THSD7A	221981	broad.mit.edu	37	chr7	11581178	11581178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttcacagggaatggcttCcagtaagtgagggcagtttc	12	9	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:11581178C>T	uc003ssf.3	-	6	1942	c.1690G>A	c.(1690-1692)GAA>AAA	p.E564K		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	564	TSP type-1 5.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGAATGGCTTCCAGTAAGTGA	0.542										HNSCC(18;0.044)			T	11581178	C	T	11581178	3	4	254	1	0	0	0	0	1	0	0	0	15876	864	30	4	3371	4	THSD7A	7	11581178	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	7574130	11581178	147557485	50	126594											
ITGB8	3696	broad.mit.edu	37	chr7	20371449	20371450	+	Frame_Shift_Ins	INS	-	-	T													atgtgcggctcggccctggcINStttttttaccgctgcatttg							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:20371449_20371450insT	uc003suu.2	+	1	725_726	c.20_21insT	c.(19-21)GCTfs	p.A7fs	ITGB8_uc011jyh.1_Intron|ITGB8_uc003sut.2_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	7					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						TCGGCCCTGGCTTTTTTTACCG	0.564													T	20371450	-	T	20371449	7	5	254	1	0	1	1	0	0	0	0	0	7901	797	28	0	22	0	ITGB8	7	20371449	Frame_Shift_Ins	INS	-	TCGA-HU-8243-01A-11D-2340-08	8790271	20371449	138767214	51	126595	657	2									
ITGB8	3696	broad.mit.edu	37	chr7	20371450	20371451	+	Frame_Shift_Ins	INS	-	-	T													tgtgcggctcggccctggctINSttttttaccgctgcatttgt							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:20371449_20371450C>CT	uc003suu.3	+	0	725_726	c.20_21C>CT	c.(19-21)gctfs	p.A7fs	ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	7					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						TCGGCCCTGGCTTTTTTTACCG	0.668													T	20371451	-	T	20371450	7	5	254	1	0	1	1	0	0	0	0	0	7901	1596	56	0	23	0	ITGB8	7	20371450	Frame_Shift_Ins	INS	-	TCGA-HU-8243-01A-11D-2340-08	1	20371450	138767213	52	126596	657	2									
GLI3	2737	broad.mit.edu	37	chr7	42004061	42004061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcccgaggcgtggtgaggCgggaggagctatgggaaagg	21	7	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:42004061C>T	uc011kbh.1	-	15	4701	c.4610G>A	c.(4609-4611)CGC>CAC	p.R1537H	GLI3_uc011kbg.1_Missense_Mutation_p.R1478H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1537					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CGTGGTGAGGCGGGAGGAGCT	0.587									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42004061	C	T	42004061	3	4	254	1	0	0	0	0	1	0	0	0	6439	768	27	1	136	1	GLI3	7	42004061	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	21632611	42004061	117134602	53	126597											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558904	113558904	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtatccaggtatatgtcttCagaagaatcagaacctcgtc	9	9	3	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr7:113558904C>T	uc010ljy.1	-	1	179	c.148G>A	c.(148-150)GAA>AAA	p.E50K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	50					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TATATGTCTTCAGAAGAATCA	0.388													T	113558904	C	T	113558904	3	4	254	1	0	0	0	0	1	0	0	0	12371	835	29	4	3236	4	PPP1R3A	7	113558904	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	71554843	113558904	45579759	54	126598											
DLC1	10395	broad.mit.edu	37	chr8	12957582	12957582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgtaacagggctgggcGtgctgaccgcgctgctggtc	15	13	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:12957582G>A	uc003wwm.2	-	9	2708	c.2264C>T	c.(2263-2265)ACG>ATG	p.T755M	DLC1_uc003wwk.1_Missense_Mutation_p.T318M|DLC1_uc003wwl.1_Missense_Mutation_p.T352M|DLC1_uc011kxx.1_Missense_Mutation_p.T244M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	755					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGGGCTGGGCGTGCTGACCGC	0.582													A	12957582	G	A	12957582	3	1	254	1	0	0	0	0	1	0	0	0	4550	1145	40	1	2362	1	DLC1	8	12957582	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08		12957582	133406440	55	126599											
TUSC3	7991	broad.mit.edu	37	chr8	15517142	15517142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaagtggattgctgacAgaacggatgttcatgtatgt	12	5	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:15517142A>G	uc003wwt.2	+	4	763	c.553A>G	c.(553-555)AGA>GGA	p.R185G	TUSC3_uc003wwr.2_Missense_Mutation_p.R185G|TUSC3_uc003wws.2_Missense_Mutation_p.R185G|TUSC3_uc003wwu.2_Missense_Mutation_p.R185G|TUSC3_uc003wwv.2_Missense_Mutation_p.R185G|TUSC3_uc003www.2_Missense_Mutation_p.R185G|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R185G	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	185					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GATTGCTGACAGAACGGATGT	0.373													G	15517142	A	G	15517142	3	3	254	1	0	0	0	0	1	0	0	0	16775	180	7	3	567	3	TUSC3	8	15517142	Missense_Mutation	SNP	A	TCGA-HU-8243-01A-11D-2340-08	2559560	15517142	130846880	56	126600											
CHD7	55636	broad.mit.edu	37	chr8	61655066	61655066	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gattcccatcaaacagtggtCaaggactaatgcaccagcag	9	11	2	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:61655066C>G	uc003xue.2	+	2	1552	c.1075C>G	c.(1075-1077)CAA>GAA	p.Q359E		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	359					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			AAACAGTGGTCAAGGACTAAT	0.453													G	61655066	C	G	61655066	3	3	254	1	0	0	0	0	1	0	0	0	3330	827	29	5	1077	5	CHD7	8	61655066	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	46137924	61655066	84708956	57	126601											
LRP12	29967	broad.mit.edu	37	chr8	105521183	105521183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaccttatagtaatgatttCgcctgggtttgcccttatga	8	8	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:105521183C>T	uc003yma.2	-	3	351	c.256G>A	c.(256-258)GAA>AAA	p.E86K	LRP12_uc003ymb.2_Missense_Mutation_p.E67K|LRP12_uc003ymc.3_Missense_Mutation_p.E67K	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	86	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTAATGATTTCGCCTGGGTTT	0.348													T	105521183	C	T	105521183	3	4	254	1	0	0	0	0	1	0	0	0	8954	893	31	1	2343	1	LRP12	8	105521183	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	43866117	105521183	40842839	58	126602											
ADCY8	114	broad.mit.edu	37	chr8	132052325	132052325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggggcagcgccgagtcGcctgacagctgcggcgcgtg	18	12	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr8:132052325G>A	uc003ytd.3	-	1	511	c.255C>T	c.(253-255)GGC>GGT	p.G85G	ADCY8_uc010mds.2_Silent_p.G85G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	85	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCGCCGAGTCGCCTGACAGCT	0.741										HNSCC(32;0.087)			A	132052325	G	A	132052325	2	1	254	1	0	0	0	0	0	0	0	1	300	1074	38	1		1	ADCY8	8	132052325	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	26531142	132052325	14311697	59	126603											
RANBP6	26953	broad.mit.edu	37	chr9	6015555	6015555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaagctggtaaaacTcttgcttttctgacacggtc	8	10	4	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:6015555T>G	uc003zjr.2	-	1	64	c.53A>C	c.(52-54)GAG>GCG	p.E18A	RANBP6_uc011lmf.1_Missense_Mutation_p.E18A|RANBP6_uc003zjs.2_5'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	18					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTGGTAAAACTCTTGCTTTTC	0.552													G	6015555	T	G	6015555	3	3	254	1	0	0	0	0	1	0	0	0	13031	1551	54	5	3268	5	RANBP6	9	6015555	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08		6015555	135197876	60	126604											
WDR31	114987	broad.mit.edu	37	chr9	116093383	116093383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattctctcttctataaTttcatcaggcctgctaaaaa	4	9	5	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:116093383T>C	uc004bhe.2	-	4	382	c.130A>G	c.(130-132)ATT>GTT	p.I44V	WDR31_uc004bhc.2_Missense_Mutation_p.I43V|WDR31_uc004bhd.2_Intron|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	44											0						TCTTCTATAATTTCATCAGGC	0.373													C	116093383	T	C	116093383	3	2	254	1	0	0	0	0	1	0	0	0	17283	1493	52	3	1005	3	WDR31	9	116093383	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	110077828	116093383	25120048	61	126605											
LAMC3	10319	broad.mit.edu	37	chr9	133952593	133952593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtaccaggaggtccaggcgGcccagaaagcactgaggacg	16	11	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:133952593G>T	uc004caa.1	+	22	3747	c.3649G>T	c.(3649-3651)GCC>TCC	p.A1217S	LAMC3_uc010mze.1_5'Flank	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1217	Domain II and I.|Potential.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTCCAGGCGGCCCAGAAAGC	0.652													T	133952593	G	T	133952593	3	4	254	1	0	0	0	0	1	0	0	0	8616	1203	42	5	3735	5	LAMC3	9	133952593	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	17859210	133952593	7260838	62	126606											
NOTCH1	4851	broad.mit.edu	37	chr9	139397647	139397647	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttactctgcacggcctcGatcttgtaggggatgttgag	12	10	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr9:139397647G>A	uc004chz.2	-	27	5154	c.5154C>T	c.(5152-5154)ATC>ATT	p.I1718I	NOTCH1_uc004cia.1_Silent_p.I948I	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1718	Extracellular (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.1719_1720>QKGPLAAFLGALASLGSLTIPYLI(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACGGCCTCGATCTTGTAGG	0.667			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139397647	G	A	139397647	2	1	254	1	0	0	0	0	0	0	0	1	10547	1048	37	1		1	NOTCH1	9	139397647	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	5445054	139397647	1815784	63	126607											
UCMA	221044	broad.mit.edu	37	chr10	13275754	13275754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcactcgcctcttctccCgccatctgcatggtgcccac	6	20	4	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:13275754C>T	uc001imd.2	-	2	178	c.105G>A	c.(103-105)GCG>GCA	p.A35A		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix	35						proteinaceous extracellular matrix					0						CCTCTTCTCCCGCCATCTGCA	0.652													T	13275754	C	T	13275754	2	4	254	1	0	0	0	0	0	0	0	1	16923	639	23	1		1	UCMA	10	13275754	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08		13275754	122258993	64	126608											
GBF1	8729	broad.mit.edu	37	chr10	104142019	104142019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcaaccctgcgctcatcGaggccacctcaccagtgccc	7	20	3	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:104142019G>A	uc001kux.1	+	40	5746	c.5506G>A	c.(5506-5508)GAG>AAG	p.E1836K	GBF1_uc001kuy.1_Missense_Mutation_p.E1832K|GBF1_uc001kuz.1_Missense_Mutation_p.E1833K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1836	Pro-rich.				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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCGCTCATCGAGGCCACCTC	0.632													A	104142019	G	A	104142019	3	1	254	1	0	0	0	0	1	0	0	0	6271	1059	37	1	5660	1	GBF1	10	104142019	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	90866265	104142019	31392728	65	126609											
C10orf26	54838	broad.mit.edu	37	chr10	104569654	104569654	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttgcccaccccccagggttCtggctggtgtggaccatcat	11	15	2	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:104569654C>G	uc001kwe.3	+	3	395	c.135C>G	c.(133-135)TTC>TTG	p.F45L	C10orf26_uc001kwf.3_Missense_Mutation_p.F66L|C10orf26_uc009xxg.1_RNA	NM_017787	NP_060257	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 2	45	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCCAGGGTTCTGGCTGGTGT	0.627													G	104569654	C	G	104569654	3	3	254	1	0	0	0	0	1	0	0	0	1599	912	32	5	239	5	C10orf26	10	104569654	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	427635	104569654	30965093	66	126610											
C10orf120	399814	broad.mit.edu	37	chr10	124457437	124457437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttaggcctgcgatggaccGttccggtttctttgcgggga	15	9	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr10:124457437G>A	uc001lgn.2	-	3	852	c.820C>T	c.(820-822)CGG>TGG	p.R274W		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	274										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				GCGATGGACCGTTCCGGTTTC	0.378													A	124457437	G	A	124457437	3	1	254	1	0	0	0	0	1	0	0	0	1590	1144	40	1	191	1	C10orf120	10	124457437	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	19887783	124457437	11077310	67	126611											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5653909	5653909	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggataggaaagtcatttgCtggctttgtgagcggtctca	14	6	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:5653909C>A	uc001mbf.2	+	8	1654	c.1410C>A	c.(1408-1410)TGC>TGA	p.C470*	HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Nonsense_Mutation_p.C116*|TRIM34_uc009yeq.2_Intron|TRIM34_uc001mbi.2_Nonsense_Mutation_p.C116*|TRIM34_uc001mbj.2_Nonsense_Mutation_p.C116*	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	470						intracellular	zinc ion binding			ovary(1)	1		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)		AAGTCATTTGCTGGCTTTGTG	0.502													A	5653909	C	A	5653909	4	1	254	1	0	0	0	0	0	1	0	0	16531	805	28	5	1440	5	TRIM6-TRIM34	11	5653909	Nonsense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		5653909	129352607	68	126612											
OR52E8	390079	broad.mit.edu	37	chr11	5878346	5878346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgttgactttgatgctgGcacaggccagacgggcaatg	13	8	0	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:5878346G>A	uc010qzr.1	-	1	587	c.587C>T	c.(586-588)GCC>GTC	p.A196V	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		TTTGATGCTGGCACAGGCCAG	0.473													A	5878346	G	A	5878346	3	1	254	1	0	0	0	0	1	0	0	0	11118	1203	42	2	368	2	OR52E8	11	5878346	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	224437	5878346	129128170	69	126613											
CCKBR	887	broad.mit.edu	37	chr11	6291352	6291352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccacgctaagcctcgtGgccatcgcactggagcggta	13	13	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:6291352G>A	uc001mcp.2	+	3	631	c.438G>A	c.(436-438)GTG>GTA	p.V146V	CCKBR_uc001mcq.2_Silent_p.V74V|CCKBR_uc001mcr.2_Silent_p.V146V|CCKBR_uc001mcs.2_Silent_p.V146V	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	146	Helical; Name=3; (Potential).				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			lung(5)|ovary(2)|breast(1)	8		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)	TAAGCCTCGTGGCCATCGCAC	0.597													A	6291352	G	A	6291352	2	1	254	1	0	0	0	0	0	0	0	1	2881	1335	47	4		4	CCKBR	11	6291352	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	413006	6291352	128715164	70	126614											
OR2AG2	338755	broad.mit.edu	37	chr11	6789246	6789246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatccttccctagagcgTggaatgtgccagcagtatgt	11	10	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:6789246T>C	uc001meq.1	-	1	943	c.943A>G	c.(943-945)ACG>GCG	p.T315A		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	315	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCCTAGAGCGTGGAATGTGCC	0.493													C	6789246	T	C	6789246	3	2	254	1	0	0	0	0	1	0	0	0	10985	1696	59	3	11	3	OR2AG2	11	6789246	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	497894	6789246	128217270	71	126615											
IPO7	10527	broad.mit.edu	37	chr11	9457876	9457878	+	In_Frame_Del	DEL	TCA	TCA	-													tgcagcaaaattgttagaggTcatcattctgcagtgcaaag							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:9457875_9457877GTCA>G	uc001mho.3	+	19	2372_2374	c.2230_2232GTCA>G	c.(2230-2232)gtc>G	p.V744del		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	744					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|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)		ATTGTTAGAGGTCATCATTCTGC	0.404													-	9457878	TCA	-	9457876	7	5	254	1	0	1	0	1	0	0	0	0	7797	1667	58	0	2309	0	IPO7	11	9457876	In_Frame_Del	DEL	TCA	TCGA-HU-8243-01A-11D-2340-08	2668630	9457876	125548640	72	126616											
SPTY2D1	144108	broad.mit.edu	37	chr11	18637552	18637552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaccatggaaattatccTttgtcctcttggccatagct	7	10	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:18637552T>C	uc001moy.2	-	3	485	c.269A>G	c.(268-270)AAG>AGG	p.K90R	SPTY2D1_uc010rdi.1_Missense_Mutation_p.K90R	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	90										breast(1)	1						GAAATTATCCTTTGTCCTCTT	0.428													C	18637552	T	C	18637552	3	2	254	1	0	0	0	0	1	0	0	0	15125	1609	56	3	1804	3	SPTY2D1	11	18637552	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	9179676	18637552	116368964	73	126617											
DCDC1	341019	broad.mit.edu	37	chr11	31327862	31327862	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactttaatcactcttggttGaagtttgtgtctttgagaca	8	6	3	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:31327862G>T	uc001msv.2	-	5	710	c.508C>A	c.(508-510)CAA>AAA	p.Q170K	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	170	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					ACTCTTGGTTGAAGTTTGTGT	0.368													T	31327862	G	T	31327862	3	4	254	1	0	0	0	0	1	0	0	0	4284	1299	45	5	576	5	DCDC1	11	31327862	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	12690310	31327862	103678654	74	126618											
OR9G4	283189	broad.mit.edu	37	chr11	56510534	56510534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcacaggtggagaatgCcttgtgtcttcctgaagctg	14	8	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:56510534C>T	uc010rjo.1	-	1	754	c.754G>A	c.(754-756)GCA>ACA	p.A252T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	252	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GTGGAGAATGCCTTGTGTCTT	0.473													T	56510534	C	T	56510534	3	4	254	1	0	0	0	0	1	0	0	0	11251	739	26	2	232	2	OR9G4	11	56510534	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	25182672	56510534	78495982	75	126619											
OSBP	5007	broad.mit.edu	37	chr11	59376145	59376145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactttgctagagagggtccGaagggtattctgcagctcag	13	8	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:59376145G>A	uc001noc.1	-	3	1114	c.634C>T	c.(634-636)CGG>TGG	p.R212W		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	212					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAGAGGGTCCGAAGGGTATTC	0.468													A	59376145	G	A	59376145	3	1	254	1	0	0	0	0	1	0	0	0	11273	1057	37	1	1837	1	OSBP	11	59376145	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	2865611	59376145	75630371	76	126620											
MS4A10	341116	broad.mit.edu	37	chr11	60559761	60559761	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatttcagggatcttggcGataacaatgaagaccttttc	8	9	3	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:60559761G>A	uc001npz.1	+	4	423	c.327G>A	c.(325-327)GCG>GCA	p.A109A		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	109	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						GGATCTTGGCGATAACAATGA	0.453													A	60559761	G	A	60559761	2	1	254	1	0	0	0	0	0	0	0	1	9855	1045	37	1		1	MS4A10	11	60559761	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	1183616	60559761	74446755	77	126621											
SCGB1D1	10648	broad.mit.edu	37	chr11	61960896	61960896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagcagagaaatgtgatcGctgagatgtaaaaagttttt	10	3	0	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:61960896G>A	uc001nsz.1	+	3	316	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	90						extracellular space	binding			skin(1)	1						AAATGTGATCGCTGAGATGTA	0.393													A	61960896	G	A	61960896	3	1	254	1	0	0	0	0	1	0	0	0	13896	1087	38	1	279	1	SCGB1D1	11	61960896	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	1401135	61960896	73045620	78	126622											
NRXN2	9379	broad.mit.edu	37	chr11	64410011	64410011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctacagtgccacttacCgtggccgccgcgggtgagga	14	13	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:64410011C>T	uc001oap.2	-	2	776	c.265G>A	c.(265-267)GCC>ACC	p.A89T	NRXN2_uc001oar.2_Intron|NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_Intron	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	89	Extracellular (Potential).				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TGCCACTTACCGTGGCCGCCG	0.726													T	64410011	C	T	64410011	3	4	254	1	0	0	0	0	1	0	0	0	10666	666	23	1	1763	1	NRXN2	11	64410011	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	2449115	64410011	70596505	79	126623											
GSTP1	2950	broad.mit.edu	37	chr11	67351315	67351315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcagtcttcgccaccAgtgagtacgcgcggcccgcg	13	18	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:67351315A>G	uc001omf.2	+	1	250	c.1A>G	c.(1-3)ATG>GTG	p.M1V	GSTP1_uc001omg.1_5'Flank	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	1					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			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)	CTTCGCCACCAGTGAGTACGC	0.726													G	67351315	A	G	67351315	3	3	254	1	0	0	0	0	1	0	0	0	6844	202	7	3	3	3	GSTP1	11	67351315	Missense_Mutation	SNP	A	TCGA-HU-8243-01A-11D-2340-08	2941304	67351315	67655201	80	126624											
INTS4	92105	broad.mit.edu	37	chr11	77690106	77690106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagcttagtgccaattGcaagcaaagtatccagcagt	10	9	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:77690106G>A	uc001oys.2	-	4	435	c.407C>T	c.(406-408)GCA>GTA	p.A136V	INTS4_uc001oyt.2_Intron|INTS4_uc001oyu.1_Missense_Mutation_p.A136V|INTS4_uc001oyv.1_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	136					snRNA processing	integrator complex	protein binding			ovary(2)	2	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)			AGTGCCAATTGCAAGCAAAGT	0.403													A	77690106	G	A	77690106	3	1	254	1	0	0	0	0	1	0	0	0	7780	1319	46	2	2564	2	INTS4	11	77690106	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	10338791	77690106	57316410	81	126625											
KDELC2	143888	broad.mit.edu	37	chr11	108361830	108361830	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgtccaaaggtttaggGacatgtatccggaccaactc	9	11	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:108361830G>A	uc001pkj.2	-	2	333	c.267C>T	c.(265-267)GTC>GTT	p.V89V	KDELC2_uc001pki.2_Silent_p.V33V	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2 precursor	89	Filamin.					endoplasmic reticulum lumen				ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AAGGTTTAGGGACATGTATCC	0.383													A	108361830	G	A	108361830	2	1	254	1	0	0	0	0	0	0	0	1	8118	1161	41	4		4	KDELC2	11	108361830	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	30671724	108361830	26644686	82	126626											
C2CD2L	9854	broad.mit.edu	37	chr11	118983467	118983467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacctcctccactccaCgccccagcatcacacctacc	2	25	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:118983467C>T	uc001pvo.2	+	10	1629	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C	C2CD2L_uc001pvn.2_Missense_Mutation_p.R424C	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	424						integral to membrane					0						CTCCACTCCACGCCCCAGCAT	0.612													T	118983467	C	T	118983467	3	4	254	1	0	0	0	0	1	0	0	0	2153	536	19	1	1308	1	C2CD2L	11	118983467	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	10621637	118983467	16023049	83	126627											
CDON	50937	broad.mit.edu	37	chr11	125875734	125875734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaggttgtacgtgtctgGtgtgtgggtctgtggggggc	19	7	2	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr11:125875734G>T	uc009zbw.2	-	9	1899	c.1771C>A	c.(1771-1773)CCA>ACA	p.P591T	CDON_uc001qdb.3_5'Flank|CDON_uc001qdc.3_Missense_Mutation_p.P591T|CDON_uc001qdd.3_RNA	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	591	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	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)		TACGTGTCTGGTGTGTGGGTC	0.537													T	125875734	G	T	125875734	3	4	254	1	0	0	0	0	1	0	0	0	3170	1261	44	5	2071	5	CDON	11	125875734	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	6892267	125875734	9130782	84	126628											
WNK1	65125	broad.mit.edu	37	chr12	1005523	1005523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcaaacaaagtgggtcGtttctctgtatcaaaaactg	8	8	2	0	rs36083875		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:1005523G>A	uc001qio.3	+	24	6377	c.5870G>A	c.(5869-5871)CGT>CAT	p.R1957H	WNK1_uc001qip.3_Missense_Mutation_p.R1709H|WNK1_uc001qir.3_Missense_Mutation_p.R1130H	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1957					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	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)			AAAGTGGGTCGTTTCTCTGTA	0.463													A	1005523	G	A	1005523	3	1	254	1	0	0	0	0	1	0	0	0	17374	1145	40	1	7466	1	WNK1	12	1005523	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08		1005523	132846372	85	126629											
PLEKHG6	55200	broad.mit.edu	37	chr12	6436699	6436699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcgcccccgaactgccGgaaggaatcctaaaaggagg	13	12	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:6436699G>A	uc001qnr.2	+	15	2098	c.1950G>A	c.(1948-1950)CCG>CCA	p.P650P	PLEKHG6_uc010sew.1_Silent_p.P650P|PLEKHG6_uc010sex.1_Silent_p.P618P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	650					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						CCGAACTGCCGGAAGGAATCC	0.627													A	6436699	G	A	6436699	2	1	254	1	0	0	0	0	0	0	0	1	12074	1103	39	1		1	PLEKHG6	12	6436699	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	5431176	6436699	127415196	86	126630											
ANO6	196527	broad.mit.edu	37	chr12	45742406	45742427	+	Splice_Site	DEL	CTCCATGATGTAAGTTAAAAGG	CTCCATGATGTAAGTTAAAAGG	-													tctacaaggcagctttcccaCtccatgatgtaagttaaaag							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:45742405_45742426ACTCCATGATGTAAGTTAAAAGG>A	uc010slf.2	+	7	1145	c.810_splice	c.e7+1	p.D270_splice	ANO6_uc001roo.3_Splice_Site_p.D249_splice|ANO6_uc010sld.1_Splice_Site_p.D249_splice|ANO6_uc010sle.1_Splice_Site_p.D249_splice|ANO6_uc010slg.2_Splice_Site_p.D231_splice	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	249					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGCTTTCCCACTCCATGATGTAAGTTAAAAGGCAAAAATGA	0.401													-	45742427	CTCCATGATGTAAGTTAAAAGG	-	45742406	8	5	254	1	0	1	0	1	0	0	1	0	701	565	20	0	781	0	ANO6	12	45742406	Splice_Site	DEL	CTCCATGATGTAAGTTAAAAGG	TCGA-HU-8243-01A-11D-2340-08	39305707	45742406	88109489	87	126631											
OSBPL8	114882	broad.mit.edu	37	chr12	76780411	76780411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcactactttcttcaaaCggaaataaggattttcttca	4	8	5	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:76780411C>T	uc001sye.1	-	13	1862	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	OSBPL8_uc001syf.1_Missense_Mutation_p.R419H|OSBPL8_uc001syg.1_Missense_Mutation_p.R419H|OSBPL8_uc001syh.1_Missense_Mutation_p.R436H	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	461					lipid transport		lipid binding			ovary(1)	1						TTTCTTCAAACGGAAATAAGG	0.279													T	76780411	C	T	76780411	3	4	254	1	0	0	0	0	1	0	0	0	11283	536	19	1	1335	1	OSBPL8	12	76780411	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	31038005	76780411	57071484	88	126632											
TRIAP1	51499	broad.mit.edu	37	chr12	120882752	120882752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatctctttctcctttaTtgctttctggtaggaggaga	10	7	3	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:120882752T>C	uc001tyg.2	-	2	194	c.154A>G	c.(154-156)ATA>GTA	p.I52V	GATC_uc010szi.1_5'Flank	NM_016399	NP_057483	O43715	TRIA1_HUMAN	p53-inducible cell-survival factor	52					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTCCTTTATTGCTTTCTGG	0.368													C	120882752	T	C	120882752	3	2	254	1	0	0	0	0	1	0	0	0	16478	1493	52	3	80	3	TRIAP1	12	120882752	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	44102341	120882752	12969143	89	126633											
RIMBP2	23504	broad.mit.edu	37	chr12	130897281	130897281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggaataaggccaagccGggcacaggtttccccacggt	12	12	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr12:130897281G>A	uc001uil.2	-	15	2868	c.2704C>T	c.(2704-2706)CGG>TGG	p.R902W		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	902	SH3 2.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		AGGCCAAGCCGGGCACAGGTT	0.458													A	130897281	G	A	130897281	3	1	254	1	0	0	0	0	1	0	0	0	13363	1115	39	1	474	1	RIMBP2	12	130897281	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	10014529	130897281	2954614	90	126634											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	5	9	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:20056686T>C	uc001umd.2	-	5	332	c.121A>G	c.(121-123)ATG>GTG	p.M41V	TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.M41V|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	41						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				0		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)		CGTTCTAACATACTTTAGCCA	0.313													C	20056686	T	C	20056686	3	2	254	1	0	0	0	0	1	0	0	0	16428	1420	49	3	1515	3	TPTE2	13	20056686	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08		20056686	95113192	91	126635											
FREM2	341640	broad.mit.edu	37	chr13	39262114	39262114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagttcgccttccagccCgagacagaggagtgccgcgt	14	13	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:39262114C>T	uc001uwv.2	+	1	942	c.633C>T	c.(631-633)CCC>CCT	p.P211P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	211	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		CCTTCCAGCCCGAGACAGAGG	0.657													T	39262114	C	T	39262114	2	4	254	1	0	0	0	0	0	0	0	1	6045	639	23	1		1	FREM2	13	39262114	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	19205428	39262114	75907764	92	126636											
COG6	57511	broad.mit.edu	37	chr13	40297472	40297472	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctttgtgttttattttagatCgaagcacatttggacacact	7	7	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:40297472C>G	uc001uxh.2	+	16	1687	c.1587C>G	c.(1585-1587)ATC>ATG	p.I529M	COG6_uc001uxi.2_Missense_Mutation_p.I477M|COG6_uc010acb.2_Missense_Mutation_p.I529M	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	529					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TATTTTAGATCGAAGCACATT	0.378													G	40297472	C	G	40297472	3	3	254	1	0	0	0	0	1	0	0	0	3662	874	31	5	1649	5	COG6	13	40297472	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	1035358	40297472	74872406	93	126637											
SLITRK5	26050	broad.mit.edu	37	chr13	88329187	88329187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctattcttgaataacaAcctcctgcaggccatgccct	7	14	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:88329187A>G	uc001vln.2	+	2	1763	c.1544A>G	c.(1543-1545)AAC>AGC	p.N515S	SLITRK5_uc010tic.1_Missense_Mutation_p.N274S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	515	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGAATAACAACCTCCTGCAG	0.527													G	88329187	A	G	88329187	3	3	254	1	0	0	0	0	1	0	0	0	14746	43	2	3	1546	3	SLITRK5	13	88329187	Missense_Mutation	SNP	A	TCGA-HU-8243-01A-11D-2340-08	48031715	88329187	26840691	94	126638											
GPC5	2262	broad.mit.edu	37	chr13	92560278	92560278	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgatcctgtgataaaTcagattattgataaactgaa	8	4	1	5			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr13:92560278T>A	uc010tif.1	+	6	1734	c.1368T>A	c.(1366-1368)AAT>AAA	p.N456K		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	456						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGTGATAAATCAGATTATTG	0.348													A	92560278	T	A	92560278	3	1	254	1	0	0	0	0	1	0	0	0	6601	1432	50	5	1390	5	GPC5	13	92560278	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	4231091	92560278	22609600	95	126639											
FRMD6	122786	broad.mit.edu	37	chr14	52171626	52171626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagcactatggaaaatacttCgagccagaggcttacttccc	8	11	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:52171626C>A	uc001wzd.2	+	6	816	c.531C>A	c.(529-531)TTC>TTA	p.F177L	FRMD6_uc001wzb.2_Missense_Mutation_p.F169L|FRMD6_uc001wzc.2_Missense_Mutation_p.F169L|FRMD6_uc001wze.2_Missense_Mutation_p.F100L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	177	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GAAAATACTTCGAGCCAGAGG	0.473													A	52171626	C	A	52171626	3	1	254	1	0	0	0	0	1	0	0	0	6054	883	31	5	525	5	FRMD6	14	52171626	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		52171626	55177914	96	126640											
PLEKHG3	26030	broad.mit.edu	37	chr14	65207906	65207906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctggggatggaccccccAggtgacatggtggacttcgt	14	11	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:65207906A>G	uc001xho.1	+	16	1940	c.1671A>G	c.(1669-1671)CCA>CCG	p.P557P	PLEKHG3_uc001xhn.1_Silent_p.P501P|PLEKHG3_uc001xhp.2_Silent_p.P678P|PLEKHG3_uc010aqh.1_Silent_p.P99P|PLEKHG3_uc001xhq.1_Silent_p.P62P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	557					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGGACCCCCCAGGTGACATGG	0.612													G	65207906	A	G	65207906	2	3	254	1	0	0	0	0	0	0	0	1	12070	175	7	3		3	PLEKHG3	14	65207906	Silent	SNP	A	TCGA-HU-8243-01A-11D-2340-08	13036280	65207906	42141634	97	126641											
C14orf159	80017	broad.mit.edu	37	chr14	91642287	91642287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatctgcagaactgttggGaatcaaagagctttccaaac	8	10	2	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:91642287G>A	uc001xzb.2	+	9	1370	c.602G>A	c.(601-603)GGA>GAA	p.G201E	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.G206E|C14orf159_uc001xyx.2_Missense_Mutation_p.G189E|C14orf159_uc001xyw.2_Missense_Mutation_p.G206E|C14orf159_uc001xzc.2_Missense_Mutation_p.G201E|C14orf159_uc001xza.2_Missense_Mutation_p.G206E|C14orf159_uc001xyv.2_Missense_Mutation_p.G206E|C14orf159_uc001xyz.2_Missense_Mutation_p.G77E|C14orf159_uc001xze.2_Missense_Mutation_p.G201E	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	201						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAACTGTTGGGAATCAAAGAG	0.488													A	91642287	G	A	91642287	3	1	254	1	0	0	0	0	1	0	0	0	1755	1174	41	4	635	4	C14orf159	14	91642287	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	26434381	91642287	15707253	98	126642											
BDKRB2	624	broad.mit.edu	37	chr14	96706782	96706782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaagggcccactcttaaCgggacctttgcccagagcaa	10	13	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:96706782C>T	uc010avm.1	+	3	313	c.117C>T	c.(115-117)AAC>AAT	p.N39N	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.N12N|BDKRB2_uc001yfg.2_Silent_p.N39N	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	39	Extracellular (Potential).				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			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CCACTCTTAACGGGACCTTTG	0.577													T	96706782	C	T	96706782	2	4	254	1	0	0	0	0	0	0	0	1	1393	535	19	1		1	BDKRB2	14	96706782	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	5064495	96706782	10642758	99	126643											
AKT1	207	broad.mit.edu	37	chr14	105237106	105237106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtggtgtgatggtgaTcatctgggccgtgaactcct	15	8	3	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr14:105237106T>C	uc001ypk.2	-	13	1893	c.1339A>G	c.(1339-1341)ATC>GTC	p.I447V	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.I447V|AKT1_uc010axa.2_Missense_Mutation_p.I447V|AKT1_uc001ypm.2_Missense_Mutation_p.I447V|AKT1_uc001ypn.2_Missense_Mutation_p.I447V|AKT1_uc001ypj.2_RNA|AKT1_uc010tyk.1_Missense_Mutation_p.I385V	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	447	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			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		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)	GTGATGGTGATCATCTGGGCC	0.592		1	Mis		breast|colorectal|ovarian|NSCLC						OREG0022961	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	105237106	T	C	105237106	3	2	254	1	0	0	0	0	1	0	0	0	478	1435	50	3	111	3	AKT1	14	105237106	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	8530324	105237106	2112434	100	126644											
C15orf2	23742	broad.mit.edu	37	chr15	24921489	24921489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaagaagggcccagaAgagtgaagaaggatgaggat	17	6	0	6			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:24921489A>G	uc001ywo.2	+	1	949	c.475A>G	c.(475-477)AGA>GGA	p.R159G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	159					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGGGCCCAGAAGAGTGAAGAA	0.617													G	24921489	A	G	24921489	3	3	254	1	0	0	0	0	1	0	0	0	1784	64	3	3	477	3	C15orf2	15	24921489	Missense_Mutation	SNP	A	TCGA-HU-8243-01A-11D-2340-08		24921489	77609903	101	126645											
EIF2AK4	440275	broad.mit.edu	37	chr15	40284379	40284379	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttacttatatttttaggctGacagcaaacaagacgatcag	7	8	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:40284379G>C	uc001zkm.1	+	17	2685	c.2635G>C	c.(2635-2637)GAC>CAC	p.D879H	EIF2AK4_uc010bbj.1_Missense_Mutation_p.D580H|EIF2AK4_uc001zkn.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	879	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		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)		TTTTTAGGCTGACAGCAAACA	0.353													C	40284379	G	C	40284379	3	2	254	1	0	0	0	0	1	0	0	0	4999	1290	45	5	2701	5	EIF2AK4	15	40284379	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	15362890	40284379	62247013	102	126646											
SLC12A1	6557	broad.mit.edu	37	chr15	48536975	48536975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggtccgagatgccacCgggaacatgaatgacaccat	12	10	0	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:48536975C>T	uc001zwn.3	+	11	1542	c.1326C>T	c.(1324-1326)ACC>ACT	p.T442T	SLC12A1_uc010uew.1_Silent_p.T248T|SLC12A1_uc010bem.2_Silent_p.T442T|SLC12A1_uc001zwq.3_Silent_p.T213T|SLC12A1_uc001zwr.3_Silent_p.T169T	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	442					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		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)	GAGATGCCACCGGGAACATGA	0.468													T	48536975	C	T	48536975	2	4	254	1	0	0	0	0	0	0	0	1	14382	639	23	1		1	SLC12A1	15	48536975	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	8252596	48536975	53994417	103	126647											
DMXL2	23312	broad.mit.edu	37	chr15	51742428	51742428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggaacgtgtgaatgagCtgcctttgcctgatgtcaaa	12	9	1	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:51742428C>T	uc002abf.2	-	42	9024	c.8799G>A	c.(8797-8799)CAG>CAA	p.Q2933Q	DMXL2_uc002abd.2_Silent_p.Q1025Q|DMXL2_uc010ufy.1_Silent_p.Q2934Q|DMXL2_uc010bfa.2_Silent_p.Q2297Q|DMXL2_uc002abc.2_RNA	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2933	WD 14.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGTGAATGAGCTGCCTTTGCC	0.488													T	51742428	C	T	51742428	2	4	254	1	0	0	0	0	0	0	0	1	4595	796	28	2		2	DMXL2	15	51742428	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	3205453	51742428	50788964	104	126648											
WDR72	256764	broad.mit.edu	37	chr15	53889438	53889438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatgtgttgttgaacttCcgccaagagaacagcttgta	9	9	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr15:53889438C>T	uc002acj.2	-	18	3028	c.2986G>A	c.(2986-2988)GAA>AAA	p.E996K		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	996										lung(1)|skin(1)	2				all cancers(107;0.0511)		TGTTGAACTTCCGCCAAGAGA	0.383													T	53889438	C	T	53889438	3	4	254	1	0	0	0	0	1	0	0	0	17319	864	30	4	334	4	WDR72	15	53889438	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	2147010	53889438	48641954	105	126649											
ERN2	10595	broad.mit.edu	37	chr16	23713854	23713854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggccagggtcagtccaCgaggctatggcagaagatgg	18	9	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:23713854C>T	uc002dma.3	-	10	1251	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H	ERN2_uc010bxp.2_Missense_Mutation_p.R361H|ERN2_uc010bxq.1_Missense_Mutation_p.R169H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	313	Lumenal (Potential).				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)		GGTCAGTCCACGAGGCTATGG	0.587													T	23713854	C	T	23713854	3	4	254	1	0	0	0	0	1	0	0	0	5238	536	19	1	1894	1	ERN2	16	23713854	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		23713854	66640899	106	126650											
CDH8	1006	broad.mit.edu	37	chr16	62055135	62055135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccagcctcttttggagCggttcaaaattcgctgttct	8	11	3	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:62055135C>T	uc002eog.1	-	2	425	c.173G>A	c.(172-174)CGC>CAC	p.R58H		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	58					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		TCTTTTGGAGCGGTTCAAAAT	0.438													T	62055135	C	T	62055135	3	4	254	1	0	0	0	0	1	0	0	0	3116	768	27	1	2270	1	CDH8	16	62055135	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	38341281	62055135	28299618	107	126651											
DDX19B	11269	broad.mit.edu	37	chr16	70359577	70359579	+	In_Frame_Del	DEL	TTC	TTC	-													actgaagctagcttatgctgTtcgaggcaataaatgtgagt							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:70359577_70359579delTTC	uc002eyo.2	+	7	722_724	c.593_595delTTC	c.(592-597)GTTCGA>GGA	p.198_199VR>G	DDX19B_uc010vly.1_In_Frame_Del_p.198_199VR>G|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_In_Frame_Del_p.172_173VR>G|DDX19B_uc010vlw.1_In_Frame_Del_p.89_90VR>G|DDX19B_uc002eyp.2_In_Frame_Del_p.167_168VR>G|DDX19B_uc002eyq.2_In_Frame_Del_p.89_90VR>G|DDX19B_uc002eyr.2_In_Frame_Del_p.47_48VR>G|DDX19B_uc010vlx.1_In_Frame_Del_p.47_48VR>G|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	198_199	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				GCTTATGCTGTTCGAGGCAATAA	0.315													-	70359579	TTC	-	70359577	7	5	254	1	0	1	0	1	0	0	0	0	4347	1725	60	0	619	0	DDX19B	16	70359577	In_Frame_Del	DEL	TTC	TCGA-HU-8243-01A-11D-2340-08	8304442	70359577	19995176	108	126652											
PHLPP2	23035	broad.mit.edu	37	chr16	71712742	71712742	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatttcctgccataaccactCtatctaacatagtgagtttc	4	11	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:71712742C>T	uc002fax.2	-	7	1190	c.1184G>A	c.(1183-1185)AGA>AAA	p.R395K	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.R395K|PHLPP2_uc002fay.1_Missense_Mutation_p.R395K	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	395	LRR 7.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CATAACCACTCTATCTAACAT	0.388													T	71712742	C	T	71712742	3	4	254	1	0	0	0	0	1	0	0	0	11855	913	32	4	2835	4	PHLPP2	16	71712742	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	1353165	71712742	18642011	109	126653											
ZC3H18	124245	broad.mit.edu	37	chr16	88689644	88689644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcgtcttcgcggtcatCgtcctactctggctccggct	11	15	3	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr16:88689644C>T	uc002fky.2	+	10	1885	c.1685C>T	c.(1684-1686)TCG>TTG	p.S562L	ZC3H18_uc010voz.1_Missense_Mutation_p.S586L|ZC3H18_uc010chw.2_RNA	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	562	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCGCGGTCATCGTCCTACTCT	0.562													T	88689644	C	T	88689644	3	4	254	1	0	0	0	0	1	0	0	0	17565	893	31	1	1719	1	ZC3H18	16	88689644	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	16976902	88689644	1665109	110	126654											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577538	C	T	7577538	3	4	254	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		7577538	73617672	111	126655											
KCNJ12	3768	broad.mit.edu	37	chr17	21319795	21319795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgctacgagaacgagCtggccttcctgagccgtgac	11	14	1	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:21319795C>T	uc002gyv.1	+	3	1846	c.1141C>T	c.(1141-1143)CTG>TTG	p.L381L		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	381	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CGAGAACGAGCTGGCCTTCCT	0.637										Prostate(3;0.18)			T	21319795	C	T	21319795	2	4	254	1	0	0	0	0	0	0	0	1	8046	796	28	2		2	KCNJ12	17	21319795	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	13742257	21319795	59875415	112	126656											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305776	39305777	+	In_Frame_Ins	INS	-	-	GGCAGCAGCTGGGGC													gtcctgcagcaggtggtctgINSgcagcagcaggggcggcagc					rs58117746		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:39305775_39305776T>TGGCAGCAGCTGGGGC	uc002hwb.3	-	0	279_280	c.244_245A>GCCCCAGCTGCTGCCA	c.(244-246)cag>GCCCCAGCTGCTGCCAg	p.82_82Q>APAAA		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	87	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		Missing (in allele KAP4.5-v1).			keratin filament		p.Q82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcaggtggtctggcagcagcag	0.653													GGCAGCAGCTGGGGC	39305777	-	GGCAGCAGCTGGGGC	39305776	7	5	254	1	0	1	1	0	0	0	0	0	8554	1357	47	0	305	0	KRTAP4-5	17	39305776	In_Frame_Ins	INS	-	TCGA-HU-8243-01A-11D-2340-08	17985981	39305776	41889434	113	126657											
BRCA1	672	broad.mit.edu	37	chr17	41209095	41209095	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgggattctcttgctcGctttggaccttggtggtttc	12	10	1	0	rs80357123		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:41209095G>A	uc002icq.2	-	19	5483	c.5251C>T	c.(5251-5253)CGA>TGA	p.R1751*	BRCA1_uc010whp.1_Nonsense_Mutation_p.R600*|BRCA1_uc010whl.1_Nonsense_Mutation_p.R647*|BRCA1_uc010whm.1_Nonsense_Mutation_p.R61*|BRCA1_uc002icp.3_Nonsense_Mutation_p.R1680*|BRCA1_uc002icu.2_Nonsense_Mutation_p.R647*|BRCA1_uc010cyx.2_Nonsense_Mutation_p.R1704*|BRCA1_uc002ict.2_Nonsense_Mutation_p.R1772*|BRCA1_uc010whn.1_Nonsense_Mutation_p.R242*|BRCA1_uc010who.1_Intron	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1751					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	p.R1751*(1)		ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTCTTGCTCGCTTTGGACCT	0.463			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			A	41209095	G	A	41209095	4	1	254	1	0	0	0	0	0	1	0	0	1498	1095	38	1	360	1	BRCA1	17	41209095	Nonsense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	1903319	41209095	39986115	114	126658											
GPATCH8	23131	broad.mit.edu	37	chr17	42478511	42478511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgatgctattgattcgaGtttgacaggagcctttttgg	11	6	0	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:42478511G>A	uc002igw.1	-	8	998	c.934C>T	c.(934-936)CTC>TTC	p.L312F	GPATCH8_uc002igv.1_Missense_Mutation_p.L234F|GPATCH8_uc010wiz.1_Missense_Mutation_p.L234F	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	312						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTGATTCGAGTTTGACAGGA	0.458											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	42478511	G	A	42478511	3	1	254	1	0	0	0	0	1	0	0	0	6594	1029	36	4	3578	4	GPATCH8	17	42478511	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	1269416	42478511	38716699	115	126659											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	254	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-HU-8243-01A-11D-2340-08	13907873	56386384	24808826	116	126660											
RGS9	8787	broad.mit.edu	37	chr17	63200383	63200383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccgctatgtgctggaCgccgcacaaacccacattta	7	17	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:63200383C>T	uc002jfe.2	+	15	1277	c.1167C>T	c.(1165-1167)GAC>GAT	p.D389D	RGS9_uc010dem.2_Silent_p.D386D|RGS9_uc002jfd.2_Silent_p.D386D|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.D160D	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	389	RGS.				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			ovary(2)|skin(2)	4						ATGTGCTGGACGCCGCACAAA	0.562													T	63200383	C	T	63200383	2	4	254	1	0	0	0	0	0	0	0	1	13313	535	19	1		1	RGS9	17	63200383	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	6813999	63200383	17994827	117	126661											
ABCA10	10349	broad.mit.edu	37	chr17	67151160	67151161	+	Frame_Shift_Ins	INS	-	-	T													aaggaacaattgttcaaaccINSttttttaacacaaaaggaaa							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:67151160_67151161insT	uc010dfa.1	-	31	4572_4573	c.3693_3694insA	c.(3691-3696)AAAGGTfs	p.K1231fs	ABCA10_uc010wqs.1_Frame_Shift_Ins_p.K223fs|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1231_1232	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TTGTTCAAACCTTTTTTAACAC	0.282													T	67151161	-	T	67151160	7	5	254	1	0	1	1	0	0	0	0	0	29	695	24	0	977	0	ABCA10	17	67151160	Frame_Shift_Ins	INS	-	TCGA-HU-8243-01A-11D-2340-08	3950777	67151160	14044050	118	126662	658	2									
ABCA10	10349	broad.mit.edu	37	chr17	67151161	67151162	+	Splice_Site	INS	-	-	T													aggaacaattgttcaaacctINStttttaacacaaaaggaaac							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr17:67151160_67151161C>CT	uc010dfa.1	-	31	4573	c.3694_splice	c.e31+1	p.G1232_splice	ABCA10_uc010wqs.1_Splice_Site_p.G224_splice|ABCA10_uc010wqt.1_Splice_Site	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1232	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)					TTGTTCAAACCTTTTTTAACAC	0.282													T	67151162	-	T	67151161	8	5	254	1	0	1	1	0	0	0	1	0	29	1623	56	0	978	0	ABCA10	17	67151161	Splice_Site	INS	-	TCGA-HU-8243-01A-11D-2340-08	1	67151161	14044049	119	126663	658	2									
ANKRD12	23253	broad.mit.edu	37	chr18	9211713	9211713	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctttacacatggctgctattCgaggagatgtgaaacaagtt	10	7	0	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr18:9211713C>G	uc002knv.2	+	6	840	c.583C>G	c.(583-585)CGA>GGA	p.R195G	ANKRD12_uc010wzn.1_Missense_Mutation_p.R195G|ANKRD12_uc002knw.2_Missense_Mutation_p.R172G|ANKRD12_uc002knx.2_Missense_Mutation_p.R172G	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	195	ANK 1.					nucleus				ovary(2)|central_nervous_system(1)	3						GGCTGCTATTCGAGGAGATGT	0.358													G	9211713	C	G	9211713	3	3	254	1	0	0	0	0	1	0	0	0	640	876	31	5	601	5	ANKRD12	18	9211713	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		9211713	68865535	120	126664											
SMAD4	4089	broad.mit.edu	37	chr18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgccctattgttactgttGatggatacgtggacccttct	10	10	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr18:48591888G>T	uc010xdp.1	+	9	1589	c.1051G>T	c.(1051-1053)GAT>TAT	p.D351Y	SMAD4_uc002lfb.3_Missense_Mutation_p.D196Y	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	351	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		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?(35)|p.D351H(7)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		TGTTACTGTTGATGGATACGT	0.438									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				T	48591888	G	T	48591888	3	4	254	1	0	0	0	0	1	0	0	0	14760	1290	45	5	1081	5	SMAD4	18	48591888	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	39380175	48591888	29485360	121	126665											
TBXA2R	6915	broad.mit.edu	37	chr19	3595741	3595741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggacagcgacctgggcCgggtgctgaggcgaggctgg	22	9	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:3595741C>T	uc002lyg.1	-	3	1191	c.977G>A	c.(976-978)CGG>CAG	p.R326Q	TBXA2R_uc002lye.1_Silent_p.P196P	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	326	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CGACCTGGGCCGGGTGCTGAG	0.697													T	3595741	C	T	3595741	3	4	254	1	0	0	0	0	1	0	0	0	15660	652	23	1	303	1	TBXA2R	19	3595741	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		3595741	55533242	122	126666											
UNC13A	23025	broad.mit.edu	37	chr19	17746834	17746834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacagatacacaactcactGgttgaggcagggagtgtagg	13	8	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:17746834G>T	uc002nhd.2	-	26	3478	c.3478C>A	c.(3478-3480)CAG>AAG	p.Q1160K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1072					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ACAACTCACTGGTTGAGGCAG	0.433													T	17746834	G	T	17746834	3	4	254	1	0	0	0	0	1	0	0	0	16981	1362	47	5	1969	5	UNC13A	19	17746834	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	14151093	17746834	41382149	123	126667											
KIAA1683	80726	broad.mit.edu	37	chr19	18376067	18376067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgctgagatcagcagcCtggtgcgctgggatgaggca	16	9	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:18376067C>T	uc002nin.2	-	3	2499	c.2283G>A	c.(2281-2283)CAG>CAA	p.Q761Q	KIAA1683_uc010ebn.2_Silent_p.Q761Q|KIAA1683_uc010xqe.1_Silent_p.Q715Q	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	761						mitochondrion				ovary(2)	2						GATCAGCAGCCTGGTGCGCTG	0.647													T	18376067	C	T	18376067	2	4	254	1	0	0	0	0	0	0	0	1	8251	680	24	4		4	KIAA1683	19	18376067	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	629233	18376067	40752916	124	126668											
ZNF208	7757	broad.mit.edu	37	chr19	22157559	22157559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcactttttggaaagaatCttctatgccctgctctggcc	7	11	4	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:22157559C>T	uc002nqp.2	-	4	426	c.277G>A	c.(277-279)GAT>AAT	p.D93N	ZNF208_uc002nqo.1_Missense_Mutation_p.D93N|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGGAAAGAATCTTCTATGCCC	0.328													T	22157559	C	T	22157559	3	4	254	1	0	0	0	0	1	0	0	0	17763	913	32	4	3569	4	ZNF208	19	22157559	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	3781492	22157559	36971424	125	126669											
ZNF571	51276	broad.mit.edu	37	chr19	38056530	38056530	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatgaattctctgatgaagaGtatattgtgaacaataacta	7	4	1	5			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:38056530G>C	uc002ogt.2	-	4	901	c.800C>G	c.(799-801)ACT>AGT	p.T267S	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.T267S	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	267	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGAAGAGTATATTGTGA	0.378													C	38056530	G	C	38056530	3	2	254	1	0	0	0	0	1	0	0	0	18000	1029	36	5	1033	5	ZNF571	19	38056530	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	15898971	38056530	21072453	126	126670											
DLL3	10683	broad.mit.edu	37	chr19	39995913	39995913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcccgcgtgggttctaCgggctgcggtgtgaggtgag	18	10	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:39995913C>T	uc002olx.2	+	6	973	c.915C>T	c.(913-915)TAC>TAT	p.Y305Y	DLL3_uc010egq.2_Silent_p.Y305Y|DLL3_uc002olw.2_Silent_p.Y305Y	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	305	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			GTGGGTTCTACGGGCTGCGGT	0.587													T	39995913	C	T	39995913	2	4	254	1	0	0	0	0	0	0	0	1	4567	547	19	1		1	DLL3	19	39995913	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	1939383	39995913	19133070	127	126671											
CYP2A6	1548	broad.mit.edu	37	chr19	41352824	41352824	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgaagtcccgtggggAattgggatccagcgtgcgct	15	9	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:41352824A>T	uc002opl.3	-	5	808	c.787T>A	c.(787-789)TCC>ACC	p.S263T	CYP2A6_uc010ehe.1_Missense_Mutation_p.S59T|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	263					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TCCCGTGGGGAATTGGGATCC	0.582													T	41352824	A	T	41352824	3	4	254	1	0	0	0	0	1	0	0	0	4162	246	9	5	717	5	CYP2A6	19	41352824	Missense_Mutation	SNP	A	TCGA-HU-8243-01A-11D-2340-08	1356911	41352824	17776159	128	126672											
CYP2A7	1549	broad.mit.edu	37	chr19	41388043	41388043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgctcttcctctgctGccagacagacatcaagacca	6	18	3	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:41388043G>T	uc002opm.2	-	1	615	c.73C>A	c.(73-75)CAG>AAG	p.Q25K	CYP2A7_uc002opo.2_Intron|CYP2A7_uc002opn.2_Missense_Mutation_p.Q25K	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	25						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572													T	41388043	G	T	41388043	3	4	254	1	0	0	0	0	1	0	0	0	4163	1328	46	5	1457	5	CYP2A7	19	41388043	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	35219	41388043	17740940	129	126673											
CEACAM8	1088	broad.mit.edu	37	chr19	43093141	43093141	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaggttgagatttaccccTgcatggtaataggtgtctga	13	6	1	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:43093141T>C	uc002oud.2	-	4	855	c.753A>G	c.(751-753)GCA>GCG	p.A251A	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	251	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				GATTTACCCCTGCATGGTAAT	0.493													C	43093141	T	C	43093141	2	2	254	1	0	0	0	0	0	0	0	1	3198	1567	55	3		3	CEACAM8	19	43093141	Silent	SNP	T	TCGA-HU-8243-01A-11D-2340-08	1705098	43093141	16035842	130	126674											
PNMAL2	57469	broad.mit.edu	37	chr19	46997202	46997202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcggactgttcgtcCgaagcctcctccgacccctc	7	20	0	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:46997202C>T	uc002pes.2	-	1	1968	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	507										central_nervous_system(1)	1		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)		ACTGTTCGTCCGAAGCCTCCT	0.672													T	46997202	C	T	46997202	2	4	254	1	0	0	0	0	0	0	0	1	12158	639	23	1		1	PNMAL2	19	46997202	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	3904061	46997202	12131781	131	126675											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596563	58596563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggcagagtcggactccGcgtcctgggggtcctgcggg	19	12	0	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr19:58596563G>A	uc002qri.2	-	7	1331	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A340V|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A205V|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A341V|ZSCAN18_uc010yht.1_Missense_Mutation_p.A397V|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	341					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GTCGGACTCCGCGTCCTGGGG	0.721													A	58596563	G	A	58596563	3	1	254	1	0	0	0	0	1	0	0	0	18227	1087	38	1	514	1	ZSCAN18	19	58596563	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	11599361	58596563	532420	132	126676											
XKR7	343702	broad.mit.edu	37	chr20	30584668	30584668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggccgcagccgccgccGcatgaccctctaccactgca	12	18	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:30584668G>A	uc002wxe.2	+	3	1322	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	383						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCGCCGCCGCATGACCCTC	0.577													A	30584668	G	A	30584668	3	1	254	1	0	0	0	0	1	0	0	0	17433	1087	38	1	1158	1	XKR7	20	30584668	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08		30584668	32440852	133	126677											
C20orf185	359710	broad.mit.edu	37	chr20	31644485	31644485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggaggggtttttggcGttgtcgaggagctctctggg	18	8	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:31644485G>A	uc002wym.1	+	2	262	c.262G>A	c.(262-264)GTT>ATT	p.V88I		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	88	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						GGTTTTTGGCGTTGTCGAGGA	0.577													A	31644485	G	A	31644485	3	1	254	1	0	0	0	0	1	0	0	0	2097	1145	40	1	268	1	C20orf185	20	31644485	Missense_Mutation	SNP	G	TCGA-HU-8243-01A-11D-2340-08	1059817	31644485	31381035	134	126678											
RBL1	5933	broad.mit.edu	37	chr20	35632270	35632270	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagagtggtggagcatccatCtaaaataacccaaaagtcag	10	8	2	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:35632270C>G	uc002xgi.2	-	21	2951	c.2872_splice	c.e21-1	p.M958_splice	RBL1_uc010zvt.1_Splice_Site|RBL1_uc002xgj.1_Intron	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a						cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GAGCATCCATCTAAAATAACC	0.368													G	35632270	C	G	35632270	5	3	254	1	0	0	0	0	0	0	1	0	13109	927	32	5	352	5	RBL1	20	35632270	Splice_Site	SNP	C	TCGA-HU-8243-01A-11D-2340-08	3987785	35632270	27393250	135	126679											
SLC35C2	51006	broad.mit.edu	37	chr20	44987061	44987061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagaaggtgatgccgaTggagaagcagtagtagagaa	16	3	0	4	rs147781798		TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:44987061T>A	uc002xro.2	-	2	626	c.85A>T	c.(85-87)ATC>TTC	p.I29F	SLC35C2_uc002xrp.2_Missense_Mutation_p.I29F|SLC35C2_uc002xrq.2_Missense_Mutation_p.I29F|SLC35C2_uc002xrr.2_Missense_Mutation_p.I29F|SLC35C2_uc010zxn.1_5'UTR|SLC35C2_uc010zxo.1_5'UTR|SLC35C2_uc010zxp.1_Missense_Mutation_p.I58F	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	29	Helical; (Potential).				transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GTGATGCCGATGGAGAAGCAG	0.612													A	44987061	T	A	44987061	3	1	254	1	0	0	0	0	1	0	0	0	14580	1464	51	5	1048	5	SLC35C2	20	44987061	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	9354791	44987061	18038459	136	126680											
SYCP2	10388	broad.mit.edu	37	chr20	58495501	58495501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcttccaacagaaacCaaaatggctgaaacattgtg	6	11	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr20:58495501C>T	uc002yaz.2	-	4	349	c.210G>A	c.(208-210)TTG>TTA	p.L70L	SYCP2_uc010gju.1_5'Flank	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	70					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CAACAGAAACCAAAATGGCTG	0.303													T	58495501	C	T	58495501	2	4	254	1	0	0	0	0	0	0	0	1	15429	593	21	4		4	SYCP2	20	58495501	Silent	SNP	C	TCGA-HU-8243-01A-11D-2340-08	13508440	58495501	4530019	137	126681											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653455	19653455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacaatttcatctattaatCgagggactgtttgaggagag	11	5	2	3			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr21:19653455C>T	uc002ykw.2	-	22	2601	c.2570G>A	c.(2569-2571)CGA>CAA	p.R857Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	857	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						ATCTATTAATCGAGGGACTGT	0.393													T	19653455	C	T	19653455	3	4	254	1	0	0	0	0	1	0	0	0	16243	884	31	1	505	1	TMPRSS15	21	19653455	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		19653455	28476440	138	126682											
GRIK1	2897	broad.mit.edu	37	chr21	31066220	31066220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaaatagttacctctcCgcgaggcttcaaaactatca	8	10	3	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr21:31066220C>T	uc002yno.1	-	2	745	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	GRIK1_uc002ynn.2_Missense_Mutation_p.R94Q|GRIK1_uc011acs.1_Missense_Mutation_p.R94Q|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.R94Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	94	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTACCTCTCCGCGAGGCTTC	0.433													T	31066220	C	T	31066220	3	4	254	1	0	0	0	0	1	0	0	0	6773	652	23	1	2699	1	GRIK1	21	31066220	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08	11412765	31066220	17063675	139	126683											
GART	2618	broad.mit.edu	37	chr21	34889792	34889792	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagctattccaacaacaacaTcaccctcagtgattctttcc	3	14	3	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr21:34889792T>A	uc002yrx.2	-	15	1961	c.1826A>T	c.(1825-1827)GAT>GTT	p.D609V	GART_uc002yrz.2_Missense_Mutation_p.D609V|GART_uc010gmd.2_Missense_Mutation_p.D271V|GART_uc002yry.2_Missense_Mutation_p.D609V	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	609	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			ovary(1)	1					Pemetrexed(DB00642)	AACAACAACATCACCCTCAGT	0.488													A	34889792	T	A	34889792	3	1	254	1	0	0	0	0	1	0	0	0	6243	1435	50	5	1238	5	GART	21	34889792	Missense_Mutation	SNP	T	TCGA-HU-8243-01A-11D-2340-08	3823572	34889792	13240103	140	126684											
DGCR8	54487	broad.mit.edu	37	chr22	20079078	20079078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgaagcggaagcaggCggagtccgagaggcccatct	16	9	1	2			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chr22:20079078C>T	uc002zri.2	+	6	1777	c.1427C>T	c.(1426-1428)GCG>GTG	p.A476V	DGCR8_uc010grz.2_Missense_Mutation_p.A476V|DGCR8_uc002zrj.2_Missense_Mutation_p.A119V	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	476	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					CGGAAGCAGGCGGAGTCCGAG	0.473													T	20079078	C	T	20079078	3	4	254	1	0	0	0	0	1	0	0	0	4464	768	27	1	1445	1	DGCR8	22	20079078	Missense_Mutation	SNP	C	TCGA-HU-8243-01A-11D-2340-08		20079078	31225488	141	126685											
CCDC22	28952	broad.mit.edu	37	chrX	49099415	49099415	+	Frame_Shift_Del	DEL	G	G	-													ggaccagctggcactgccttGggtcccgccccaccttcgca							TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chrX:49099415delG	uc004dnd.1	+	4	581	c.425delG	c.(424-426)TGGfs	p.W142fs	CCDC22_uc011mna.1_Frame_Shift_Del_p.W142fs|CCDC22_uc004dnc.1_RNA	NM_014008	NP_054727	O60826	CCD22_HUMAN	coiled-coil domain containing 22	142										central_nervous_system(1)	1						GCACTGCCTTGGGTCCCGCCC	0.592													-	49099415	G	-	49099415	7	5	254	1	0	1	0	1	0	0	0	0	2797	1357	47	0	439	0	CCDC22	23	49099415	Frame_Shift_Del	DEL	G	TCGA-HU-8243-01A-11D-2340-08		49099415	106171145	142	126686											
MAGEE1	57692	broad.mit.edu	37	chrX	75650189	75650189	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggctttccatttttggGaacccaaagagacttctgtc	10	9	1	1			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chrX:75650189G>A	uc004ecm.1	+	1	2073	c.1866G>A	c.(1864-1866)GGG>GGA	p.G622G		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	622	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CCATTTTTGGGAACCCAAAGA	0.488													A	75650189	G	A	75650189	2	1	254	1	0	0	0	0	0	0	0	1	9185	1161	41	4		4	MAGEE1	23	75650189	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	26550774	75650189	79620371	143	126687											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299671	125299671	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctcgggcagcctctggacGgcgtagccccgcagctcgcc	14	17	1	0			TCGA-HU-8243-01A-11D-2340-08	TCGA-HU-8243-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9635cfd4-3d26-4fc6-846c-fd74d5b60098	a711abd1-f1c2-4e42-8b66-79b4514ac1c4	g.chrX:125299671G>C	uc004euk.1	-	1	264	c.237C>G	c.(235-237)GCC>GCG	p.A79A		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	79										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCCTCTGGACGGCGTAGCCCC	0.701													C	125299671	G	C	125299671	2	2	254	1	0	0	0	0	0	0	0	1	4265	1103	39	5		5	DCAF12L2	23	125299671	Silent	SNP	G	TCGA-HU-8243-01A-11D-2340-08	49649482	125299671	29970889	144	126688											
CAMTA1	23261	broad.mit.edu	37	chr1	7725097	7725097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcccccagcagggtagCctgcagctgagcagctcgga	14	13	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:7725097C>T	uc001aoi.2	+	9	2697	c.2490C>T	c.(2488-2490)AGC>AGT	p.S830S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		AGCAGGGTAGCCTGCAGCTGA	0.716													T	7725097	C	T	7725097	2	4	255	1	0	0	0	0	0	0	0	1	2613	738	26	2		2	CAMTA1	1	7725097	Silent	SNP	C	TCGA-HU-8245-01A-11D-2340-08		7725097	241525524	1	126689											
SPEN	23013	broad.mit.edu	37	chr1	16264327	16264328	+	Frame_Shift_Ins	INS	-	-	G													agtaccccatcgtgtggcagINSggcctgctggccctcaagaa							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:16264326_16264327A>AG	uc001axk.1	+	12	10733_10734	c.10529_10530A>AG	c.(10528-10530)cagfs	p.Q3510fs	SPEN_uc010obp.1_Frame_Shift_Ins_p.Q3469fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3510	SPOC.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein 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)		ATCGTGTGGCAGGGCCTGCTGG	0.594													G	16264328	-	G	16264327	7	5	255	1	0	1	1	0	0	0	0	0	15037	991	35	0	10580	0	SPEN	1	16264327	Frame_Shift_Ins	INS	-	TCGA-HU-8245-01A-11D-2340-08	8539230	16264327	232986294	2	126690											
RSPO1	284654	broad.mit.edu	37	chr1	38082187	38082187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgtcggggttgcgggcGtcgaagtatccaggtgggca	17	8	1	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:38082187G>A	uc001cbl.1	-	5	1043	c.255C>T	c.(253-255)GAC>GAT	p.D85D	RSPO1_uc001cbm.1_Silent_p.D85D|RSPO1_uc009vvf.1_Silent_p.D58D|RSPO1_uc009vvg.1_Silent_p.D85D	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	85	FU 1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTTGCGGGCGTCGAAGTATC	0.612													A	38082187	G	A	38082187	2	1	255	1	0	0	0	0	0	0	0	1	13709	1136	40	1		1	RSPO1	1	38082187	Silent	SNP	G	TCGA-HU-8245-01A-11D-2340-08	21817860	38082187	211168434	3	126691											
SLC2A1	6513	broad.mit.edu	37	chr1	43396861	43396861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacccatgtctggttgTagaactcctcgatcacctgc	11	12	2	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:43396861T>C	uc001cik.2	-	3	656	c.131A>G	c.(130-132)TAC>TGC	p.Y44C		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	44	Extracellular (Potential).				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			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGTCTGGTTGTAGAACTCCTC	0.607											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	43396861	T	C	43396861	3	2	255	1	0	0	0	0	1	0	0	0	14538	1638	57	3	1379	3	SLC2A1	1	43396861	Missense_Mutation	SNP	T	TCGA-HU-8245-01A-11D-2340-08	5314674	43396861	205853760	4	126692											
LRRC7	57554	broad.mit.edu	37	chr1	70504365	70504365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctcaaatccactgccGcccggaatcttctaaaggtg	7	13	3	0	rs141932871		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:70504365G>A	uc001dep.2	+	19	2774	c.2744G>A	c.(2743-2745)CGC>CAC	p.R915H	LRRC7_uc009wbg.2_Missense_Mutation_p.R199H|LRRC7_uc001deq.2_Missense_Mutation_p.R156H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	915						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						ATCCACTGCCGCCCGGAATCT	0.403													A	70504365	G	A	70504365	3	1	255	1	0	0	0	0	1	0	0	0	9020	1087	38	1	2818	1	LRRC7	1	70504365	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	27107504	70504365	178746256	5	126693											
COL11A1	1301	broad.mit.edu	37	chr1	103484413	103484413	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtccttcgacaagcatAccctataacaggaaaagaga	10	9	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:103484413A>T	uc001dul.2	-	10	1629	c.1311T>A	c.(1309-1311)GGT>GGA	p.G437G	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.G449G|COL11A1_uc001dun.2_Silent_p.G398G|COL11A1_uc009weh.2_Silent_p.G321G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	437	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CGACAAGCATACCCTATAACA	0.328													T	103484413	A	T	103484413	2	4	255	1	0	0	0	0	0	0	0	1	3667	378	14	5		5	COL11A1	1	103484413	Silent	SNP	A	TCGA-HU-8245-01A-11D-2340-08	32980048	103484413	145766208	6	126694											
IGSF9	57549	broad.mit.edu	37	chr1	159912835	159912835	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatccaaagcgcagccactcGatgacatgcagggggggccg	14	12	0	1	rs143816509		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:159912835G>A	uc001fur.2	-	3	363	c.165C>T	c.(163-165)ATC>ATT	p.I55I	IGSF9_uc001fuq.2_Silent_p.I55I	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	55	Ig-like 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGCCACTCGATGACATGCA	0.517													A	159912835	G	A	159912835	2	1	255	1	0	0	0	0	0	0	0	1	7605	1048	37	1		1	IGSF9	1	159912835	Silent	SNP	G	TCGA-HU-8245-01A-11D-2340-08	56428422	159912835	89337786	7	126695											
CACNA1E	777	broad.mit.edu	37	chr1	181767666	181767666	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgaccgagtcttccaactCtccgcacccccagcagagcc	7	20	2	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:181767666C>A	uc001gow.2	+	47	6674	c.6509C>A	c.(6508-6510)TCT>TAT	p.S2170Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.S2058Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.S1439Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2213	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTTCCAACTCTCCGCACCCC	0.622													A	181767666	C	A	181767666	3	1	255	1	0	0	0	0	1	0	0	0	2542	913	32	5	6695	5	CACNA1E	1	181767666	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	21854831	181767666	67482955	8	126696											
HMCN1	83872	broad.mit.edu	37	chr1	185946997	185946997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattaccttgttatgttcAgggttatccagaaccaacaa	7	9	1	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:185946997A>G	uc001grq.1	+	16	2679	c.2450A>G	c.(2449-2451)CAG>CGG	p.Q817R	HMCN1_uc001grr.1_Missense_Mutation_p.Q158R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	817	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTTATGTTCAGGGTTATCCA	0.393													G	185946997	A	G	185946997	3	3	255	1	0	0	0	0	1	0	0	0	7220	188	7	3	2512	3	HMCN1	1	185946997	Missense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08	4179331	185946997	63303624	9	126697											
KCNH1	3756	broad.mit.edu	37	chr1	211093223	211093223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggattgtcttggtgtcctcGtcaaagatctcatagtcccc	9	12	3	1	rs138866428		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr1:211093223G>A	uc001hib.2	-	7	1391	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	KCNH1_uc001hic.2_Silent_p.D380D	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	407	Extracellular (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGTGTCCTCGTCAAAGATCT	0.547													A	211093223	G	A	211093223	2	1	255	1	0	0	0	0	0	0	0	1	8031	1136	40	1		1	KCNH1	1	211093223	Silent	SNP	G	TCGA-HU-8245-01A-11D-2340-08	25146226	211093223	38157398	10	126698											
KCNF1	3754	broad.mit.edu	37	chr2	11053671	11053671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgaccaccgtcggctaCggcgacatctaccccaagac	8	17	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:11053671C>T	uc002rax.2	+	1	1609	c.1119C>T	c.(1117-1119)TAC>TAT	p.Y373Y		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	373	Selectivity filter (By similarity).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGTCGGCTACGGCGACATCT	0.602													T	11053671	C	T	11053671	2	4	255	1	0	0	0	0	0	0	0	1	8026	547	19	1		1	KCNF1	2	11053671	Silent	SNP	C	TCGA-HU-8245-01A-11D-2340-08		11053671	232145702	11	126699											
QPCT	25797	broad.mit.edu	37	chr2	37586990	37586990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccttagacaagaaactcCtttccttaaaggtatctgtt	7	9	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:37586990C>T	uc002rqg.2	+	3	657	c.535C>T	c.(535-537)CTT>TTT	p.L179F	QPCT_uc002rqh.2_Missense_Mutation_p.L130F	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	179					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAAGAAACTCCTTTCCTTAAA	0.413													T	37586990	C	T	37586990	3	4	255	1	0	0	0	0	1	0	0	0	12874	681	24	4	545	4	QPCT	2	37586990	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	26533319	37586990	205612383	12	126700											
NEB	4703	broad.mit.edu	37	chr2	152404896	152404896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagtgtatacccatatgCcttggtgtgttcataggctt	10	9	1	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:152404896C>T	uc010fnx.2	-	103	15171	c.14980G>A	c.(14980-14982)GCA>ACA	p.A4994T	NEB_uc002txr.2_Missense_Mutation_p.A1417T	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4994					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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACCCATATGCCTTGGTGTGT	0.433													T	152404896	C	T	152404896	3	4	255	1	0	0	0	0	1	0	0	0	10302	739	26	2	5811	2	NEB	2	152404896	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	114817906	152404896	90794477	13	126701											
TTN	7273	broad.mit.edu	37	chr2	179622343	179622343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttgcaagagtactgcCcagcatgctctgagtaagca	10	11	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:179622343C>A	uc010zfi.1	-	44	10690	c.10466G>T	c.(10465-10467)GGG>GTG	p.G3489V	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133432	NP_597676	Q8WZ42	TITIN_HUMAN	titin isoform novex-1	3571							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGTACTGCCCAGCATGCTC	0.458													A	179622343	C	A	179622343	3	1	255	1	0	0	0	0	1	0	0	0	16732	623	22	5	100656	5	TTN	2	179622343	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	27217447	179622343	63577030	14	126702											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521086	+	Frame_Shift_Ins	INS	-	-	G													aagaacatgactatttcaagINSggggggactgatgcagtgtg							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr2:187521084_187521085A>AG	uc002upq.3	+	16	1951_1952	c.1675_1676A>AG	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Ins_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|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|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)		GACTATTTCAAGGGGGGGACTG	0.431													G	187521086	-	G	187521085	7	5	255	1	0	1	1	0	0	0	0	0	7888	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Ins	INS	-	TCGA-HU-8245-01A-11D-2340-08	7898742	187521085	55678288	15	126703											
CELSR3	1951	broad.mit.edu	37	chr3	48668088	48668088	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaggctccgagacatagaGcaactcacggggaagcactg	12	12	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:48668088G>T	uc003cuf.1	-	46	11415	c.11415C>A	c.(11413-11415)TGC>TGA	p.C3805*	SLC26A6_uc003cug.2_Nonsense_Mutation_p.C379*|SLC26A6_uc003cuh.2_Nonsense_Mutation_p.C400*|SLC26A6_uc010hke.2_Nonsense_Mutation_p.C251*|SLC26A6_uc003cuk.2_Nonsense_Mutation_p.C293*|SLC26A6_uc003cui.2_Nonsense_Mutation_p.C400*|SLC26A6_uc003cuj.2_Nonsense_Mutation_p.C400*|SLC26A6_uc011bbp.1_Nonsense_Mutation_p.C364*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGACATAGAGCAACTCACGG	0.527													T	48668088	G	T	48668088	4	4	255	1	0	0	0	0	0	1	0	0	3223	963	34	5		5	CELSR3	3	48668088	Nonsense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		48668088	149354342	16	126704											
RBM6	10180	broad.mit.edu	37	chr3	50012778	50012779	+	Frame_Shift_Del	DEL	CT	CT	-													tcttaatgcttttcggactcCtgatggcatgcctgtaaaga							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:50012777_50012778CCT>C	uc003cyc.3	+	4	1683_1684	c.1435_1436CCT>C	c.(1435-1437)cctfs	p.P479fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_5'UTR|RBM6_uc003cyd.3_5'UTR|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	479	RRM.				RNA processing	nucleus	DNA binding|RNA binding|nucleotide 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)		TTTTCGGACTCCTGATGGCATG	0.366													-	50012779	CT	-	50012778	7	5	255	1	0	1	0	1	0	0	0	0	13144	681	24	0	1450	0	RBM6	3	50012778	Frame_Shift_Del	DEL	CT	TCGA-HU-8245-01A-11D-2340-08	1344690	50012778	148009652	17	126705											
MINA	84864	broad.mit.edu	37	chr3	97686239	97686239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtgcagggtcatctctctGaatgagaaggggcttctgct	13	9	4	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:97686239G>A	uc003drz.1	-	2	705	c.199C>T	c.(199-201)CAG>TAG	p.Q67*	MINA_uc003dsa.1_Nonsense_Mutation_p.Q67*|MINA_uc003dsb.1_Nonsense_Mutation_p.Q67*|MINA_uc003dsc.1_Nonsense_Mutation_p.Q67*|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	67					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						TCATCTCTCTGAATGAGAAGG	0.468													A	97686239	G	A	97686239	4	1	255	1	0	0	0	0	0	1	0	0	9586	1299	45	4	1234	4	MINA	3	97686239	Nonsense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	47673461	97686239	100336191	18	126706											
MYH15	22989	broad.mit.edu	37	chr3	108129642	108129642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctggctgctgcagagCggaccttcccgaggtcagac	13	15	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr3:108129642C>T	uc003dxa.1	-	32	4400	c.4343G>A	c.(4342-4344)CGC>CAC	p.R1448H		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1448	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TGCTGCAGAGCGGACCTTCCC	0.652													T	108129642	C	T	108129642	3	4	255	1	0	0	0	0	1	0	0	0	10034	768	27	1	1541	1	MYH15	3	108129642	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	10443403	108129642	89892788	19	126707											
EPHA5	2044	broad.mit.edu	37	chr4	66467874	66467874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcagtcccgcagggtaAatttgagttctatgaagatt	11	6	1	3			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:66467874A>C	uc003hcy.2	-	3	588	c.395T>G	c.(394-396)TTT>TGT	p.F132C	EPHA5_uc003hcx.2_Missense_Mutation_p.F63C|EPHA5_uc003hcz.2_Missense_Mutation_p.F132C|EPHA5_uc011cah.1_Missense_Mutation_p.F132C|EPHA5_uc011cai.1_Missense_Mutation_p.F132C|EPHA5_uc003hda.2_Missense_Mutation_p.F132C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	132	Extracellular (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCGCAGGGTAAATTTGAGTTC	0.428										TSP Lung(17;0.13)			C	66467874	A	C	66467874	3	2	255	1	0	0	0	0	1	0	0	0	5170	14	1	5	2782	5	EPHA5	4	66467874	Missense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08		66467874	124686402	20	126708											
HNRPDL	9987	broad.mit.edu	37	chr4	83348624	83348625	+	Frame_Shift_Ins	INS	-	-	T													tggtatctgctttctaacaaINStttttttactggctcttcat							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:83348624_83348625insT	uc003hmr.2	-	4	1402_1403	c.867_868insA	c.(865-870)AAATTGfs	p.K289fs	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Frame_Shift_Ins_p.K289fs	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	289_290	RRM 2.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				CTTTCTAACAATTTTTTTACTG	0.287													T	83348625	-	T	83348624	7	5	255	1	0	1	1	0	0	0	0	0	7276	98	4	0	410	0	HNRPDL	4	83348624	Frame_Shift_Ins	INS	-	TCGA-HU-8245-01A-11D-2340-08	16880750	83348624	107805652	21	126709	659	2									
HNRPDL	9987	broad.mit.edu	37	chr4	83348625	83348626	+	Frame_Shift_Ins	INS	-	-	T													ggtatctgctttctaacaatINSttttttactggctcttcatc							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:83348624_83348625A>AT	uc003hmr.3	-	3	1402_1403	c.867_868T>AT	c.(865-870)aaattgfs	p.K289fs	HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Frame_Shift_Ins_p.K289fs	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	289	RRM 2.				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				CTTTCTAACAATTTTTTTACTG	0.287													T	83348626	-	T	83348625	7	5	255	1	0	1	1	0	0	0	0	0	7276	1490	52	0	411	0	HNRPDL	4	83348625	Frame_Shift_Ins	INS	-	TCGA-HU-8245-01A-11D-2340-08	1	83348625	107805651	22	126710	659	2									
UNC5C	8633	broad.mit.edu	37	chr4	96127865	96127865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgatgcatagtgaggaCgactgggcgggtgagcagag	19	6	0	4			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:96127865C>T	uc003htp.1	-	11	1970	c.1816G>A	c.(1816-1818)GTC>ATC	p.V606I	UNC5C_uc010ilc.1_Missense_Mutation_p.V625I	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	606	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATAGTGAGGACGACTGGGCGG	0.592													T	96127865	C	T	96127865	3	4	255	1	0	0	0	0	1	0	0	0	16990	536	19	1	1003	1	UNC5C	4	96127865	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	12779240	96127865	95026411	23	126711											
PRMT10	90826	broad.mit.edu	37	chr4	148575375	148575375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcattctgacagtgagtaTccatggtctgatacagtttc	8	9	3	3			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:148575375T>C	uc003ilc.2	-	9	1815	c.1673A>G	c.(1672-1674)GAT>GGT	p.D558G	PRMT10_uc003ilb.2_Missense_Mutation_p.D202G|PRMT10_uc003ild.2_Missense_Mutation_p.D445G	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	558						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						ACAGTGAGTATCCATGGTCTG	0.413													C	148575375	T	C	148575375	3	2	255	1	0	0	0	0	1	0	0	0	12536	1435	50	3	880	3	PRMT10	4	148575375	Missense_Mutation	SNP	T	TCGA-HU-8245-01A-11D-2340-08	52447510	148575375	42578901	24	126712											
WDR17	116966	broad.mit.edu	37	chr4	177095813	177095813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttacattggtgcattActggctatcagaagacagta	11	6	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:177095813A>C	uc003iuj.2	+	28	3666	c.3510A>C	c.(3508-3510)TTA>TTC	p.L1170F	WDR17_uc003iuk.2_Missense_Mutation_p.L1146F|WDR17_uc003ium.3_Missense_Mutation_p.L1131F|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.L381F	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1170										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		TTGGTGCATTACTGGCTATCA	0.333													C	177095813	A	C	177095813	3	2	255	1	0	0	0	0	1	0	0	0	17274	388	14	5	3616	5	WDR17	4	177095813	Missense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08	28520438	177095813	14058463	25	126713											
IRF2	3660	broad.mit.edu	37	chr4	185339369	185339369	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctttggtttctttccTgtggcaacaaaaatgtagtt	8	7	3	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr4:185339369T>A	uc003iwf.3	-	5	565	c.365_splice	c.e5-1	p.G122_splice		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2						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			ovary(1)	1		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)		GTTTCTTTCCTGTGGCAACAA	0.373													A	185339369	T	A	185339369	5	1	255	1	0	0	0	0	0	0	1	0	7828	1594	55	5	706	5	IRF2	4	185339369	Splice_Site	SNP	T	TCGA-HU-8245-01A-11D-2340-08	8243556	185339369	5814907	26	126714											
CDH12	1010	broad.mit.edu	37	chr5	21854857	21854857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcactgtttccataggtcGggtcatctgcatctgtggcc	12	11	3	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:21854857G>A	uc010iuc.2	-	4	1027	c.569C>T	c.(568-570)CCG>CTG	p.P190L	CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.P190L	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	190	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCCATAGGTCGGGTCATCTGC	0.403										HNSCC(59;0.17)			A	21854857	G	A	21854857	3	1	255	1	0	0	0	0	1	0	0	0	3098	1116	39	1	1851	1	CDH12	5	21854857	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		21854857	159060403	27	126715											
APC	324	broad.mit.edu	37	chr5	112174471	112174471	+	Frame_Shift_Del	DEL	A	A	-													cacataatagaagatgaaatAaaacaaagtgagcaaagaca							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:112174471delA	uc010jby.2	+	16	3560	c.3180delA	c.(3178-3180)ATAfs	p.I1060fs	APC_uc011cvt.1_Frame_Shift_Del_p.I1042fs|APC_uc003kpz.3_Frame_Shift_Del_p.I1060fs|APC_uc003kpy.3_Frame_Shift_Del_p.I1060fs|APC_uc010jbz.2_Frame_Shift_Del_p.I777fs|APC_uc010jca.2_Frame_Shift_Del_p.I360fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1060	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				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.Q1062fs*1(2)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		AAGATGAAATAAAACAAAGTG	0.363		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			-	112174471	A	-	112174471	7	5	255	1	0	1	0	1	0	0	0	0	763	352	13	0	3238	0	APC	5	112174471	Frame_Shift_Del	DEL	A	TCGA-HU-8245-01A-11D-2340-08	90319614	112174471	68740789	28	126716											
PCDH1	5097	broad.mit.edu	37	chr5	141243873	141243873	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtaggtgctttgttgctctcGatcaaagctcaggctggata	12	8	3	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:141243873G>C	uc003llq.2	-	3	2140	c.2023C>G	c.(2023-2025)CGA>GGA	p.R675G	PCDH1_uc003llp.2_Missense_Mutation_p.R675G|PCDH1_uc011dbf.1_Missense_Mutation_p.R653G	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	675	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		TGTTGCTCTCGATCAAAGCTC	0.557													C	141243873	G	C	141243873	3	2	255	1	0	0	0	0	1	0	0	0	11506	1066	37	5	1786	5	PCDH1	5	141243873	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	29069402	141243873	39671387	29	126717											
PDE6A	5145	broad.mit.edu	37	chr5	149276316	149276316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacactcccatggctcCttcccatacacctctctggt	4	19	2	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr5:149276316C>T	uc003lrg.3	-	11	1551	c.1431G>A	c.(1429-1431)AAG>AAA	p.K477K		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	477					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			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCATGGCTCCTTCCCATACA	0.522													T	149276316	C	T	149276316	2	4	255	1	0	0	0	0	0	0	0	1	11645	680	24	4		4	PDE6A	5	149276316	Silent	SNP	C	TCGA-HU-8245-01A-11D-2340-08	8032443	149276316	31638944	30	126718											
TUBB2B	347733	broad.mit.edu	37	chr6	3226033	3226033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggcccagttattcccgGctccactctggcctgccaga	9	17	1	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:3226033G>A	uc003mvg.2	-	4	481	c.290C>T	c.(289-291)GCC>GTC	p.A97V	uc003mvi.1_5'Flank|TUBB2B_uc010jnj.2_Missense_Mutation_p.A60V|TUBB2B_uc010jnk.2_Missense_Mutation_p.A25V|TUBB2B_uc003mvh.2_Missense_Mutation_p.A70V|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	97					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTTATTCCCGGCTCCACTCTG	0.522													A	3226033	G	A	3226033	3	1	255	1	0	0	0	0	1	0	0	0	16752	1203	42	2	1051	2	TUBB2B	6	3226033	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		3226033	167889034	31	126719											
DDR1	780	broad.mit.edu	37	chr6	30856549	30856549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttactgctgctgctcttgGtggcaagtggagatgctgac	13	9	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:30856549G>T	uc003nrr.2	+	3	302	c.43G>T	c.(43-45)GTG>TTG	p.V15L	DDR1_uc010jse.2_Missense_Mutation_p.V15L|DDR1_uc003nrq.2_Missense_Mutation_p.V15L|DDR1_uc003nrs.2_Missense_Mutation_p.V15L|DDR1_uc003nrt.2_Missense_Mutation_p.V15L|DDR1_uc011dms.1_Missense_Mutation_p.V33L|DDR1_uc011dmt.1_Missense_Mutation_p.V41L|DDR1_uc003nru.2_Missense_Mutation_p.V15L|DDR1_uc011dmu.1_Missense_Mutation_p.V15L|DDR1_uc003nrv.2_Missense_Mutation_p.V15L|DDR1_uc003nrw.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	15					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GCTGCTCTTGGTGGCAAGTGG	0.567													T	30856549	G	T	30856549	3	4	255	1	0	0	0	0	1	0	0	0	4336	1261	44	5	45	5	DDR1	6	30856549	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	27630516	30856549	140258518	32	126720											
ITPR3	3710	broad.mit.edu	37	chr6	33638163	33638163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacttggccatcgacgagAtctcccagcagctgggcgtg	13	12	1	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:33638163A>C	uc011drk.1	+	19	2470	c.2251A>C	c.(2251-2253)ATC>CTC	p.I751L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	751	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CATCGACGAGATCTCCCAGCA	0.607													C	33638163	A	C	33638163	3	2	255	1	0	0	0	0	1	0	0	0	7922	333	12	5	2325	5	ITPR3	6	33638163	Missense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08	2781614	33638163	137476904	33	126721											
ZNF318	24149	broad.mit.edu	37	chr6	43333179	43333179	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacagaccaggagagcgtctCtacaaaagtaaaggataata	9	8	1	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:43333179C>G	uc003oux.2	-	2	478	c.400_splice	c.e2-1	p.R134_splice	ZNF318_uc003ouw.2_Splice_Site	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAGAGCGTCTCTACAAAAGTA	0.408													G	43333179	C	G	43333179	5	3	255	1	0	0	0	0	0	0	1	0	17833	927	32	5	6476	5	ZNF318	6	43333179	Splice_Site	SNP	C	TCGA-HU-8245-01A-11D-2340-08	9695016	43333179	127781888	34	126722											
PSMB1	5689	broad.mit.edu	37	chr6	170862307	170862307	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtctctgccaggagccgaAtacatggctgtagaggacaa	12	9	1	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr6:170862307A>T	uc011ehe.1	-	1	111	c.24T>A	c.(22-24)TAT>TAA	p.Y8*	PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_5'Flank|TBP_uc003qxt.2_5'Flank|TBP_uc003qxu.2_5'Flank|TBP_uc011ehf.1_5'Flank	NM_002793	NP_002784	P20618	PSB1_HUMAN	proteasome beta 1 subunit precursor	8					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	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CAGGAGCCGAATACATGGCTG	0.597													T	170862307	A	T	170862307	4	4	255	1	0	0	0	0	0	1	0	0	12674	108	4	5	725	5	PSMB1	6	170862307	Nonsense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08	127529128	170862307	252760	35	126723											
GIMAP5	55340	broad.mit.edu	37	chr7	150439921	150439921	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcccagctgctccaaAgaactggagctggggcctgc	14	12	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr7:150439921A>C	uc003whr.1	+	3	1046	c.694A>C	c.(694-696)AGA>CGA	p.R232R	GIMAP5_uc010lpu.2_Silent_p.R90R	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	232	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCTCCAAAGAACTGGAGC	0.592													C	150439921	A	C	150439921	2	2	255	1	0	0	0	0	0	0	0	1	6382	64	3	5		5	GIMAP5	7	150439921	Silent	SNP	A	TCGA-HU-8245-01A-11D-2340-08		150439921	8698742	36	126724											
OPRK1	4986	broad.mit.edu	37	chr8	54142312	54142312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaaggcaaagatgaagaCgcagatcttcatgaagaggt	12	7	2	6			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr8:54142312C>T	uc003xrh.1	-	3	1063	c.688G>A	c.(688-690)GTC>ATC	p.V230I	OPRK1_uc003xri.1_Missense_Mutation_p.V230I|OPRK1_uc010lyc.1_Missense_Mutation_p.V141I	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	230	Helical; Name=5; (Potential).				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			ovary(1)|skin(1)	2		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)	AAGATGAAGACGCAGATCTTC	0.527													T	54142312	C	T	54142312	3	4	255	1	0	0	0	0	1	0	0	0	10885	536	19	1	458	1	OPRK1	8	54142312	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08		54142312	92221710	37	126725											
TRHR	7201	broad.mit.edu	37	chr8	110100010	110100010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagacagtatctacggttCctgggtctatggctatgttg	11	8	2	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr8:110100010C>T	uc003ymz.3	+	1	285	c.269C>T	c.(268-270)TCC>TTC	p.S90F		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	90	Extracellular (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATCTACGGTTCCTGGGTCTAT	0.498													T	110100010	C	T	110100010	3	4	255	1	0	0	0	0	1	0	0	0	16477	855	30	4	271	4	TRHR	8	110100010	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	55957698	110100010	36264012	38	126726											
RG9MTD3	158234	broad.mit.edu	37	chr9	37762114	37762114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtacggcatggtgctcGgtgagtgcgtgaattgcctg	17	8	0	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:37762114G>A	uc004aai.2	+	2	263	c.186G>A	c.(184-186)TCG>TCA	p.S62S	RG9MTD3_uc011lqo.1_Silent_p.S62S|RG9MTD3_uc011lqp.1_Silent_p.S62S|RG9MTD3_uc011lqq.1_Missense_Mutation_p.R33Q|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.G4S	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	62							methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		CATGGTGCTCGGTGAGTGCGT	0.527													A	37762114	G	A	37762114	2	1	255	1	0	0	0	0	0	0	0	1	13273	1130	39	1		1	RG9MTD3	9	37762114	Silent	SNP	G	TCGA-HU-8245-01A-11D-2340-08		37762114	103451317	39	126727											
GABBR2	9568	broad.mit.edu	37	chr9	101470875	101470875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgggctgctgggcggcgGccggggggcgccccgcgccc	22	17	0	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:101470875G>A	uc004ays.2	-	1	301	c.145C>T	c.(145-147)CCG>TCG	p.P49S		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	49	Extracellular (Potential).				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			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTgggcggcggccggggggcg	0.368													A	101470875	G	A	101470875	3	1	255	1	0	0	0	0	1	0	0	0	6156	1203	42	2	2756	2	GABBR2	9	101470875	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	63708761	101470875	39742556	40	126728											
GRIN3A	116443	broad.mit.edu	37	chr9	104433226	104433226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatattccatagtccatgaCaatctttcccccctgccagc	4	17	1	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:104433226C>A	uc004bbp.1	-	3	2069	c.1468G>T	c.(1468-1470)GTC>TTC	p.V490F	GRIN3A_uc004bbq.1_Missense_Mutation_p.V490F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	490	Extracellular (Potential).				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			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		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)	TAGTCCATGACAATCTTTCCC	0.498													A	104433226	C	A	104433226	3	1	255	1	0	0	0	0	1	0	0	0	6783	478	17	5	1907	5	GRIN3A	9	104433226	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	2962351	104433226	36780205	41	126729											
DFNB31	25861	broad.mit.edu	37	chr9	117186780	117186780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgtctggttccccaggCtgctcagggtcacctgggag	14	13	3	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr9:117186780C>A	uc004biz.3	-	6	1899	c.1250G>T	c.(1249-1251)AGC>ATC	p.S417I	DFNB31_uc004bix.2_Missense_Mutation_p.S66I|DFNB31_uc004biy.3_Missense_Mutation_p.S34I|DFNB31_uc004bja.3_Missense_Mutation_p.S417I	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	417					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GTTCCCCAGGCTGCTCAGGGT	0.582													A	117186780	C	A	117186780	3	1	255	1	0	0	0	0	1	0	0	0	4455	797	28	5	1501	5	DFNB31	9	117186780	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	12753554	117186780	24026651	42	126730											
FRMD4A	55691	broad.mit.edu	37	chr10	13698676	13698676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcatcctggtgaccctGctgtgcgccacgaaggtgct	15	12	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr10:13698676G>A	uc001ims.2	-	22	3265	c.2913C>T	c.(2911-2913)AGC>AGT	p.S971S	FRMD4A_uc009xjf.1_Silent_p.S971S	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	971	Ser-rich.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TGGTGACCCTGCTGTGCGCCA	0.672													A	13698676	G	A	13698676	2	1	255	1	0	0	0	0	0	0	0	1	6051	1310	46	2		2	FRMD4A	10	13698676	Silent	SNP	G	TCGA-HU-8245-01A-11D-2340-08		13698676	121836071	43	126731											
OR9Q2	219957	broad.mit.edu	37	chr11	57958374	57958374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttatgtcaccatcataaccGagaaggcccgctggggccta	10	12	2	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:57958374G>A	uc010rka.1	+	1	412	c.412G>A	c.(412-414)GAG>AAG	p.E138K		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				CATCATAACCGAGAAGGCCCG	0.547													A	57958374	G	A	57958374	3	1	255	1	0	0	0	0	1	0	0	0	11256	1059	37	1	414	1	OR9Q2	11	57958374	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		57958374	77048142	44	126732											
TMEM138	51524	broad.mit.edu	37	chr11	61133663	61133663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgtactttgccctcaGcatctcccttcatgtctggg	9	13	4	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:61133663G>A	uc001nrl.1	+	3	451	c.275G>A	c.(274-276)AGC>AAC	p.S92N	TMEM138_uc010rli.1_Missense_Mutation_p.S92N|TMEM138_uc001nrm.2_Missense_Mutation_p.S92N	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	92	Helical; (Potential).					integral to membrane					0						TTTGCCCTCAGCATCTCCCTT	0.363													A	61133663	G	A	61133663	3	1	255	1	0	0	0	0	1	0	0	0	16050	971	34	2	281	2	TMEM138	11	61133663	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	3175289	61133663	73872853	45	126733											
MAP3K11	4296	broad.mit.edu	37	chr11	65375465	65375465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgttaacagctacgcCataggccacagcaaggcagt	11	11	0	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:65375465C>T	uc001oew.2	-	3	1490	c.997G>A	c.(997-999)GGC>AGC	p.G333S	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.G76S|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	333	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)|lung(1)|central_nervous_system(1)|skin(1)	6						ACAGCTACGCCATAGGCCACA	0.607													T	65375465	C	T	65375465	3	4	255	1	0	0	0	0	1	0	0	0	9245	594	21	4	1578	4	MAP3K11	11	65375465	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	4241802	65375465	69631051	46	126734											
MMP10	4319	broad.mit.edu	37	chr11	102643648	102643648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacagctgcatcaatttTccttatggttggaggaaaac	9	7	1	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:102643648T>C	uc001phg.1	-	8	1178	c.1156A>G	c.(1156-1158)AAA>GAA	p.K386E		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	386					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)		GCATCAATTTTCCTTATGGTT	0.413													C	102643648	T	C	102643648	3	2	255	1	0	0	0	0	1	0	0	0	9649	1792	62	3	286	3	MMP10	11	102643648	Missense_Mutation	SNP	T	TCGA-HU-8245-01A-11D-2340-08	37268183	102643648	32362868	47	126735											
MMP10	4319	broad.mit.edu	37	chr11	102650395	102650395	+	Frame_Shift_Del	DEL	T	T	-													gaacttctgcattccttggaTttttttaacaatgagattac							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:102650394_102650394AT>A	uc001phg.2	-	1	225	c.188_188AT>T	c.(187-189)atcfs	p.I63fs		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	63					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)		CATTCCTTGGATTTTTTTAAC	0.423													-	102650395	T	-	102650395	7	5	255	1	0	1	0	1	0	0	0	0	9649	1493	52	0	1279	0	MMP10	11	102650395	Frame_Shift_Del	DEL	T	TCGA-HU-8245-01A-11D-2340-08	6747	102650395	32356121	48	126736											
KIAA1826	84437	broad.mit.edu	37	chr11	105880559	105880559	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagctgaagccgctcAtgttccatgtctaaatgccg	8	12	3	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr11:105880559A>C	uc001piy.2	-	3	914	c.741T>G	c.(739-741)CAT>CAG	p.H247Q	KIAA1826_uc001piz.2_Missense_Mutation_p.H247Q	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	247	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		GAAGCCGCTCATGTTCCATGT	0.468													C	105880559	A	C	105880559	3	2	255	1	0	0	0	0	1	0	0	0	8260	214	8	5	300	5	KIAA1826	11	105880559	Missense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08	3230164	105880559	29125957	49	126737											
KRT2	3849	broad.mit.edu	37	chr12	53045826	53045826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctggaagttgatctcCggcttccaccagacaccaca	9	13	1	3			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr12:53045826C>T	uc001sat.2	-	1	134	c.101G>A	c.(100-102)CGG>CAG	p.R34Q		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	34	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGTTGATCTCCGGCTTCCACC	0.517													T	53045826	C	T	53045826	3	4	255	1	0	0	0	0	1	0	0	0	8457	652	23	1	1854	1	KRT2	12	53045826	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08		53045826	80806069	50	126738											
ANKS1B	56899	broad.mit.edu	37	chr12	100200338	100200338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaccactctaagccgtccGtagagtgccgccaagtccaa	8	14	1	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr12:100200338G>A	uc001tge.1	-	4	930	c.513C>T	c.(511-513)TAC>TAT	p.Y171Y	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.Y171Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	171	ANK 5.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		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)		TAAGCCGTCCGTAGAGTGCCG	0.488													A	100200338	G	A	100200338	2	1	255	1	0	0	0	0	0	0	0	1	689	1140	40	1		1	ANKS1B	12	100200338	Silent	SNP	G	TCGA-HU-8245-01A-11D-2340-08	47154512	100200338	33651557	51	126739											
FZD10	11211	broad.mit.edu	37	chr12	130647618	130647618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagatcccgatgtgcaaggAcatcggctacaacatgactc	10	12	0	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr12:130647618A>G	uc001uii.2	+	1	587	c.131A>G	c.(130-132)GAC>GGC	p.D44G	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	44	FZ.|Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		ATGTGCAAGGACATCGGCTAC	0.632													G	130647618	A	G	130647618	3	3	255	1	0	0	0	0	1	0	0	0	6129	275	10	3	133	3	FZD10	12	130647618	Missense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08	30447280	130647618	3204277	52	126740											
CCNA1	8900	broad.mit.edu	37	chr13	37006834	37006834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaagagtatctcagctggGaaggaccggggctcccagat	15	9	1	3			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr13:37006834G>A	uc001uvr.3	+	1	426	c.76G>A	c.(76-78)GAA>AAA	p.E26K	CCNA1_uc010teo.1_Intron|CCNA1_uc010abq.2_Intron|CCNA1_uc010abp.2_Intron|CCNA1_uc001uvs.3_Missense_Mutation_p.E26K|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	26					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			lung(2)|skin(2)|ovary(1)	5		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)		TCTCAGCTGGGAAGGACCGGG	0.552													A	37006834	G	A	37006834	3	1	255	1	0	0	0	0	1	0	0	0	2909	1175	41	4	78	4	CCNA1	13	37006834	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		37006834	78163044	53	126741											
OXGR1	27199	broad.mit.edu	37	chr13	97639925	97639925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtagtgcatcttgagtGggatgttttcatcagtgcaa	14	5	3	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr13:97639925G>A	uc001vmx.1	-	4	333	c.89C>T	c.(88-90)CCA>CTA	p.P30L	OXGR1_uc010afr.1_Missense_Mutation_p.P30L	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	30	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CATCTTGAGTGGGATGTTTTC	0.408													A	97639925	G	A	97639925	3	1	255	1	0	0	0	0	1	0	0	0	11332	1348	47	4	928	4	OXGR1	13	97639925	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	60633091	97639925	17529953	54	126742											
GAS6	2621	broad.mit.edu	37	chr13	114542718	114542719	+	Frame_Shift_Ins	INS	-	-	C													acctttgtcgcagagccggcINSccccccagccagctttacac							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr13:114542717_114542718G>GC	uc001vud.3	-	4	602_603	c.449_450C>GC	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; 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	Golgi lumen|endoplasmic reticulum lumen|extracellular space|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)				CGCAGAGCCGGCCCCCCCAGCC	0.649													C	114542719	-	C	114542718	7	5	255	1	0	1	1	0	0	0	0	0	6249	739	26	0	1631	0	GAS6	13	114542718	Frame_Shift_Ins	INS	-	TCGA-HU-8245-01A-11D-2340-08	16902793	114542718	627160	55	126743											
CCDC102A	92922	broad.mit.edu	37	chr16	57552022	57552022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggctggccctcaggtcGcagtccagtgcgctggctgt	15	14	1	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr16:57552022G>A	uc002elw.2	-	6	1419	c.1206C>T	c.(1204-1206)TGC>TGT	p.C402C		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	402										ovary(1)	1						CCCTCAGGTCGCAGTCCAGTG	0.687													A	57552022	G	A	57552022	2	1	255	1	0	0	0	0	0	0	0	1	2736	1079	38	1		1	CCDC102A	16	57552022	Silent	SNP	G	TCGA-HU-8245-01A-11D-2340-08		57552022	32802731	56	126744											
COX4NB	10328	broad.mit.edu	37	chr16	85813362	85813362	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctgggtttgtccagtcAttccgaatgtcatccaggtg	10	10	3	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr16:85813362A>G	uc002fjd.2	-	5	832	c.585T>C	c.(583-585)AAT>AAC	p.N195N	COX4NB_uc010vol.1_3'UTR	NM_006067	NP_006058	O43402	CX4NB_HUMAN	COX4 neighbor isoform 1	195						mitochondrion|nucleus					0						TTGTCCAGTCATTCCGAATGT	0.547													G	85813362	A	G	85813362	2	3	255	1	0	0	0	0	0	0	0	1	3771	214	8	3		3	COX4NB	16	85813362	Silent	SNP	A	TCGA-HU-8245-01A-11D-2340-08	28261340	85813362	4541391	57	126745											
TP53	7157	broad.mit.edu	37	chr17	7577560	7577560	+	Frame_Shift_Del	DEL	A	A	-													gttcatgccgcccatgcaggAactgttacacatgtagttgt					rs28934573		TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:7577559_7577559GA>G	uc002gim.2	-	6	916	c.722_722TC>C	c.(721-723)tccfs	p.S241fs	TP53_uc002gig.1_Frame_Shift_Del_p.S241fs|TP53_uc002gih.3_Frame_Shift_Del_p.S241fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.S109fs|TP53_uc010cnf.1_Frame_Shift_Del_p.S109fs|TP53_uc002gii.1_Frame_Shift_Del_p.S109fs|TP53_uc010cni.1_Frame_Shift_Del_p.S241fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S241fs|TP53_uc002gij.2_Frame_Shift_Del_p.S241fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.S148fs|TP53_uc002gio.2_Frame_Shift_Del_p.S109fs|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*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)		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)			-	7577560	A	-	7577560	7	5	255	1	0	1	0	1	0	0	0	0	16378	246	9	0	569	0	TP53	17	7577560	Frame_Shift_Del	DEL	A	TCGA-HU-8245-01A-11D-2340-08		7577560	73617650	58	126746											
MAP2K4	6416	broad.mit.edu	37	chr17	11984671	11984671	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcccaatattttaacAgagagagactgagaacacac	7	9	0	3			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:11984671A>G	uc002gnj.2	+	3	288	c.219_splice	c.e3-2	p.I73_splice	MAP2K4_uc002gnk.2_Splice_Site_p.I84_splice|MAP2K4_uc010vvi.1_Splice_Site|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						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			large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		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)		ATATTTTAACAGAGAGAGACT	0.353			D|Mis|N		pancreatic|breast|colorectal								G	11984671	A	G	11984671	5	3	255	1	0	0	0	0	0	0	1	0	9239	202	7	3	227	3	MAP2K4	17	11984671	Splice_Site	SNP	A	TCGA-HU-8245-01A-11D-2340-08	4407111	11984671	69210539	59	126747											
TLCD1	116238	broad.mit.edu	37	chr17	27051543	27051547	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-													gcccctcactcagtcaagaaCttgtctttgtgttgcttctt							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:27051542_27051546ACTTGT>A	uc002hco.3	-	3	841_845	c.726_730ACAAGT>T	c.(724-732)gacaagttcfs	p.D242fs	TLCD1_uc010waw.2_Frame_Shift_Del_p.D195fs	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	Homo sapiens TLC domain containing 1 (TLCD1), transcript variant 1, mRNA.	242						integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TCAGTCAAGAACTTGTCTTTGTGTT	0.522													-	27051547	CTTGT	-	27051543	7	5	255	1	0	1	0	1	0	0	0	0	15934	564	20	0	18	0	TLCD1	17	27051543	Frame_Shift_Del	DEL	CTTGT	TCGA-HU-8245-01A-11D-2340-08	15066872	27051543	54143667	60	126748											
KRT28	162605	broad.mit.edu	37	chr17	38953169	38953169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttcgctgtcacctaccGtggccatcagggactgcagc	11	15	2	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:38953169G>A	uc002hvh.1	-	5	1043	c.977C>T	c.(976-978)ACG>ATG	p.T326M		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	326	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GTCACCTACCGTGGCCATCAG	0.572													A	38953169	G	A	38953169	3	1	255	1	0	0	0	0	1	0	0	0	8465	1159	40	1	433	1	KRT28	17	38953169	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08	11901626	38953169	42242041	61	126749											
LPO	4025	broad.mit.edu	37	chr17	56326514	56326514	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgcagcccttaccgcaCcattacgggagactgcaata	9	15	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:56326514C>G	uc002ivt.2	+	5	735	c.419C>G	c.(418-420)ACC>AGC	p.T140S	LPO_uc010dco.2_Missense_Mutation_p.T140S|LPO_uc010wnr.1_Missense_Mutation_p.T57S|LPO_uc010wns.1_Missense_Mutation_p.T81S|LPO_uc010dcp.2_Missense_Mutation_p.T57S|LPO_uc010dcq.2_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	140					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						CCTTACCGCACCATTACGGGA	0.637													G	56326514	C	G	56326514	3	3	255	1	0	0	0	0	1	0	0	0	8922	507	18	5	433	5	LPO	17	56326514	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	17373345	56326514	24868696	62	126750											
C17orf71	55181	broad.mit.edu	37	chr17	57290373	57290373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaagtagaagtgaaaaCtgagaagaggccaaacttcg	12	6	1	4			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr17:57290373C>A	uc002ixi.2	+	3	2231	c.2189C>A	c.(2188-2190)ACT>AAT	p.T730N		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	730					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GAAGTGAAAACTGAGAAGAGG	0.458													A	57290373	C	A	57290373	3	1	255	1	0	0	0	0	1	0	0	0	1878	565	20	5	2199	5	C17orf71	17	57290373	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	963859	57290373	23904837	63	126751											
DLGAP1	9229	broad.mit.edu	37	chr18	3729181	3729181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtggtgcgcggcggCgaggacgacctcagggacac	20	10	1	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr18:3729181C>T	uc002kmf.2	-	4	1612	c.1545G>A	c.(1543-1545)TCG>TCA	p.S515S	DLGAP1_uc010wyz.1_Silent_p.S515S|DLGAP1_uc002kme.1_Silent_p.S213S|DLGAP1_uc010dkn.2_Silent_p.S213S|DLGAP1_uc010wyw.1_Silent_p.S221S|DLGAP1_uc010wyx.1_Silent_p.S227S|DLGAP1_uc010wyy.1_Silent_p.S227S|DLGAP1_uc002kmg.2_Silent_p.S213S|DLGAP1_uc002kmk.2_Silent_p.S515S	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	515					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				TGCGCGGCGGCGAGGACGACC	0.677													T	3729181	C	T	3729181	2	4	255	1	0	0	0	0	0	0	0	1	4559	755	27	1		1	DLGAP1	18	3729181	Silent	SNP	C	TCGA-HU-8245-01A-11D-2340-08		3729181	74348067	64	126752											
APC2	10297	broad.mit.edu	37	chr19	1466023	1466023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgagaggcaggaagccGggcgcacccgctgctgcggc	19	14	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:1466023G>A	uc002lsr.1	+	15	2931	c.2723G>A	c.(2722-2724)CGG>CAG	p.R908Q	APC2_uc002lss.1_Missense_Mutation_p.R490Q|APC2_uc002lst.1_Missense_Mutation_p.R908Q|APC2_uc002lsu.1_Missense_Mutation_p.R907Q|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	908					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)|pancreas(1)	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)		GCAGGAAGCCGGGCGCACCCG	0.741													A	1466023	G	A	1466023	3	1	255	1	0	0	0	0	1	0	0	0	764	1116	39	1	2777	1	APC2	19	1466023	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		1466023	57662960	65	126753											
CACNA1A	773	broad.mit.edu	37	chr19	13409734	13409734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggctgccctcccgggCgtggtggtccgactcgcggc	15	17	0	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:13409734C>T	uc010dze.2	-	19	2952	c.2716G>A	c.(2716-2718)GCC>ACC	p.A906T	CACNA1A_uc010dzc.2_Missense_Mutation_p.A431T|CACNA1A_uc002mwy.3_Missense_Mutation_p.A905T|CACNA1A_uc010xne.1_Missense_Mutation_p.A434T	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	906	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCTCCCGGGCGTGGTGGTCC	0.776													T	13409734	C	T	13409734	3	4	255	1	0	0	0	0	1	0	0	0	2538	768	27	1	5025	1	CACNA1A	19	13409734	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	11943711	13409734	45719249	66	126754											
YIF1B	90522	broad.mit.edu	37	chr19	38799964	38799964	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatggggatgaagcggTcgatctggggaggcagagct	20	5	1	3			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:38799964T>A	uc002ohz.2	-	3	351	c.302A>T	c.(301-303)GAC>GTC	p.D101V	YIF1B_uc002ohw.2_Missense_Mutation_p.D70V|YIF1B_uc002ohx.2_Missense_Mutation_p.D86V|YIF1B_uc010xtx.1_Missense_Mutation_p.D84V|YIF1B_uc010xty.1_Missense_Mutation_p.D70V|YIF1B_uc002oia.2_Missense_Mutation_p.D98V|YIF1B_uc002ohy.2_Missense_Mutation_p.D98V|YIF1B_uc002oib.2_Missense_Mutation_p.D98V	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	101	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GATGAAGCGGTCGATCTGGGG	0.587													A	38799964	T	A	38799964	3	1	255	1	0	0	0	0	1	0	0	0	17473	1667	58	5	747	5	YIF1B	19	38799964	Missense_Mutation	SNP	T	TCGA-HU-8245-01A-11D-2340-08	25390230	38799964	20329019	67	126755											
ZNF211	10520	broad.mit.edu	37	chr19	58153269	58153270	+	Frame_Shift_Del	DEL	AG	AG	-													ctccaaccttaagaaccaccAgagagttcacactggagaaa							TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr19:58153268_58153269CAG>C	uc002qpr.2	+	5	1909_1910	c.1606_1607CAG>C	c.(1606-1608)cagfs	p.Q536fs	ZNF211_uc010yhb.1_Frame_Shift_Del_p.Q476fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.Q485fs|ZNF211_uc002qpq.2_Frame_Shift_Del_p.Q472fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.Q484fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.Q484fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.Q463fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.Q411fs	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	472						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)		TAAGAACCACCAGAGAGTTCAC	0.455													-	58153270	AG	-	58153269	7	5	255	1	0	1	0	1	0	0	0	0	17764	188	7	0	1468	0	ZNF211	19	58153269	Frame_Shift_Del	DEL	AG	TCGA-HU-8245-01A-11D-2340-08	19353305	58153269	975714	68	126756											
CPXM1	56265	broad.mit.edu	37	chr20	2774876	2774876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccaggcgcctgcgaAggtccgggggcaccttggcc	16	16	0	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:2774876A>C	uc002wgu.2	-	14	2229	c.2165T>G	c.(2164-2166)CTT>CGT	p.L722R	CPXM1_uc010gas.2_Missense_Mutation_p.L648R	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	722					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						GCGCCTGCGAAGGTCCGGGGG	0.617													C	2774876	A	C	2774876	3	2	255	1	0	0	0	0	1	0	0	0	3837	72	3	5	43	5	CPXM1	20	2774876	Missense_Mutation	SNP	A	TCGA-HU-8245-01A-11D-2340-08		2774876	60250644	69	126757											
NAA20	51126	broad.mit.edu	37	chr20	20013784	20013784	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggatactgagaagaaaTccatcataccattacctcat	6	11	2	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:20013784T>C	uc002wrp.2	+	6	594	c.490T>C	c.(490-492)TCC>CCC	p.S164P	NAA20_uc002wrq.2_3'UTR|NAA20_uc002wrr.2_Missense_Mutation_p.S152P	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	164						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						TGAGAAGAAATCCATCATACC	0.363													C	20013784	T	C	20013784	3	2	255	1	0	0	0	0	1	0	0	0	10120	1435	50	3	533	3	NAA20	20	20013784	Missense_Mutation	SNP	T	TCGA-HU-8245-01A-11D-2340-08	17238908	20013784	43011736	70	126758											
NDRG3	57446	broad.mit.edu	37	chr20	35317165	35317165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgacgtggaccacaccaTgagttgtttctatatcatgt	9	8	2	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:35317165T>C	uc002xfw.2	-	4	198	c.116A>G	c.(115-117)CAT>CGT	p.H39R	NDRG3_uc002xfx.2_Missense_Mutation_p.H27R|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	39					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				GACCACACCATGAGTTGTTTC	0.378													C	35317165	T	C	35317165	3	2	255	1	0	0	0	0	1	0	0	0	10253	1464	51	3	1063	3	NDRG3	20	35317165	Missense_Mutation	SNP	T	TCGA-HU-8245-01A-11D-2340-08	15303381	35317165	27708355	71	126759											
WISP2	8839	broad.mit.edu	37	chr20	43355838	43355838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggctgggcatggccaccCgggtgtccaaccagaaccgc	15	14	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr20:43355838C>T	uc002xmn.2	+	5	996	c.643C>T	c.(643-645)CGG>TGG	p.R215W	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.R215W|WISP2_uc002xmq.2_Silent_p.P132P	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	215	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CATGGCCACCCGGGTGTCCAA	0.677													T	43355838	C	T	43355838	3	4	255	1	0	0	0	0	1	0	0	0	17370	643	23	1	657	1	WISP2	20	43355838	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	8038673	43355838	19669682	72	126760											
SAMSN1	64092	broad.mit.edu	37	chr21	15893509	15893509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgataaagaattattccGaaaacgatcgaaattcccaa	5	7	0	2			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr21:15893509G>A	uc002yju.1	-	2	173	c.91C>T	c.(91-93)CGG>TGG	p.R31W	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R99W	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	31					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATTATTCCGAAAACGATCG	0.299													A	15893509	G	A	15893509	3	1	255	1	0	0	0	0	1	0	0	0	13830	1057	37	1	1058	1	SAMSN1	21	15893509	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		15893509	32236386	73	126761											
SMARCB1	6598	broad.mit.edu	37	chr22	24167535	24167535	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggggttgggcggggagTttgtcaccaccatcgcatac	15	10	1	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:24167535T>G	uc002zyb.2	+	7	1126	c.919T>G	c.(919-921)TTT>GTT	p.F307V	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.F298V|SMARCB1_uc002zyd.2_Missense_Mutation_p.F316V	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	307	Interaction with PPP1R15A.|2.|2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGGCGGGGAGTTTGTCACCAC	0.562			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				G	24167535	T	G	24167535	3	3	255	1	0	0	0	0	1	0	0	0	14774	1725	60	5	945	5	SMARCB1	22	24167535	Missense_Mutation	SNP	T	TCGA-HU-8245-01A-11D-2340-08		24167535	27137031	74	126762											
CACNA1I	8911	broad.mit.edu	37	chr22	40037114	40037114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactacaatgtgtgccgcaCgggcagcgccaacccccaca	9	16	0	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:40037114C>T	uc003ayc.2	+	6	983	c.983C>T	c.(982-984)ACG>ATG	p.T328M	CACNA1I_uc003ayd.2_Missense_Mutation_p.T328M|CACNA1I_uc003aye.2_Missense_Mutation_p.T243M|CACNA1I_uc003ayf.2_Missense_Mutation_p.T243M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	328	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGTGCCGCACGGGCAGCGCC	0.592													T	40037114	C	T	40037114	3	4	255	1	0	0	0	0	1	0	0	0	2546	536	19	1	1005	1	CACNA1I	22	40037114	Missense_Mutation	SNP	C	TCGA-HU-8245-01A-11D-2340-08	15869579	40037114	11267452	75	126763											
ZC3H7B	23264	broad.mit.edu	37	chr22	41739432	41739432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccataggcccccgggctggCgactacacctaccgtgaggg	13	16	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:41739432C>T	uc003azw.2	+	13	1527	c.1311C>T	c.(1309-1311)GGC>GGT	p.G437G	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	453					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CCCGGGCTGGCGACTACACCT	0.632													T	41739432	C	T	41739432	2	4	255	1	0	0	0	0	0	0	0	1	17570	755	27	1		1	ZC3H7B	22	41739432	Silent	SNP	C	TCGA-HU-8245-01A-11D-2340-08	1702318	41739432	9565134	76	126764											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987858	50987858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacagcatggagtgctaCgacccgcgaacagacgcctg	12	13	0	1			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chr22:50987858C>T	uc003bmi.2	+	1	1397	c.1263C>T	c.(1261-1263)TAC>TAT	p.Y421Y		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	421	Kelch 3.									central_nervous_system(1)	1		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)		TGGAGTGCTACGACCCGCGAA	0.677													T	50987858	C	T	50987858	2	4	255	1	0	0	0	0	0	0	0	1	8361	547	19	1		1	KLHDC7B	22	50987858	Silent	SNP	C	TCGA-HU-8245-01A-11D-2340-08	9248426	50987858	316708	77	126765											
GUCY2F	2986	broad.mit.edu	37	chrX	108718759	108718759	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccagctgtttcccaggagcGaggctgcctcgcagtagcca	12	15	0	0			TCGA-HU-8245-01A-11D-2340-08	TCGA-HU-8245-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cad26a-cbc6-4977-83b9-dc61e49f2861	143533c9-e5de-40a3-967c-a410d9e18e0f	g.chrX:108718759G>C	uc004eod.3	-	2	683	c.407C>G	c.(406-408)TCG>TGG	p.S136W	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	136	Extracellular (Potential).				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			lung(4)|breast(3)|central_nervous_system(1)	8						TCCCAGGAGCGAGGCTGCCTC	0.498											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	108718759	G	C	108718759	3	2	255	1	0	0	0	0	1	0	0	0	6898	1059	37	5	2991	5	GUCY2F	23	108718759	Missense_Mutation	SNP	G	TCGA-HU-8245-01A-11D-2340-08		108718759	46551801	78	126766											
MAGOH	4116	broad.mit.edu	37	chr1	53692785	53692785	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acacttcaggtcctggacaaGataataaaatactcgtaagc	7	9	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:53692785G>C	uc001cvf.1	-	5	461	c.373C>G	c.(373-375)CTT>GTT	p.L125V	MAGOH_uc010ont.1_Missense_Mutation_p.L88V	NM_002370	NP_002361	P61326	MGN_HUMAN	mago-nashi homolog	125					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	protein binding|RNA binding				0						TCCTGGACAAGATAATAAAAT	0.378													C	53692785	G	C	53692785	3	2	256	1	0	0	0	0	1	0	0	0	9194	942	33	5	71	5	MAGOH	1	53692785	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08		53692785	195557836	1	126767											
ZNF697	90874	broad.mit.edu	37	chr1	120165891	120165891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcgcacgaagcccttgcCgcactccccgcaggcgaagg	13	17	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:120165891C>T	uc001ehy.1	-	3	1189	c.1075G>A	c.(1075-1077)GGC>AGC	p.G359S		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	359	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		AAGCCCTTGCCGCACTCCCCG	0.498													T	120165891	C	T	120165891	3	4	256	1	0	0	0	0	1	0	0	0	18097	652	23	1	566	1	ZNF697	1	120165891	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	66473106	120165891	129084730	2	126768											
FASLG	356	broad.mit.edu	37	chr1	172634912	172634912	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtatacttccggggtcaatCttgcaacaacctgcccctga	8	13	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:172634912C>A	uc001gis.2	+	4	759	c.602C>A	c.(601-603)TCT>TAT	p.S201Y	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	201	Extracellular (Potential).				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			lung(2)|breast(1)	3						CGGGGTCAATCTTGCAACAAC	0.468													A	172634912	C	A	172634912	3	1	256	1	0	0	0	0	1	0	0	0	5682	913	32	5	616	5	FASLG	1	172634912	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	52469021	172634912	76615709	3	126769											
ZNF648	127665	broad.mit.edu	37	chr1	182026380	182026380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttctgaaaggcccgccCgccccgcaggcacctgtagg	14	16	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:182026380C>T	uc001goz.2	-	2	974	c.766G>A	c.(766-768)GGG>AGG	p.G256R		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGGCCCGCCCGCCCCGCAGG	0.716													T	182026380	C	T	182026380	3	4	256	1	0	0	0	0	1	0	0	0	18060	652	23	1	944	1	ZNF648	1	182026380	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	9391468	182026380	67224241	4	126770											
FAM5C	339479	broad.mit.edu	37	chr1	190067555	190067555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaccattggacttgatgcGacttctcaggtagatgtgta	13	7	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:190067555G>A	uc001gse.1	-	8	2126	c.1894C>T	c.(1894-1896)CGC>TGC	p.R632C	FAM5C_uc010pot.1_Missense_Mutation_p.R530C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	632						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GACTTGATGCGACTTCTCAGG	0.423													A	190067555	G	A	190067555	3	1	256	1	0	0	0	0	1	0	0	0	5594	1058	37	1	410	1	FAM5C	1	190067555	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	8041175	190067555	59183066	5	126771											
CFHR5	81494	broad.mit.edu	37	chr1	196963269	196963269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctcagccaaaaaaagaaAgctacaaagttggagacgtg	10	7	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:196963269A>G	uc001gts.3	+	4	618	c.490A>G	c.(490-492)AGC>GGC	p.S164G		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	164	Sushi 3.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AAAAAAAGAAAGCTACAAAGT	0.338													G	196963269	A	G	196963269	3	3	256	1	0	0	0	0	1	0	0	0	3288	72	3	3	504	3	CFHR5	1	196963269	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	6895714	196963269	52287352	6	126772											
ASPM	259266	broad.mit.edu	37	chr1	197063269	197063269	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtatagctctccatTttctctgaatgataattgct	7	8	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:197063269T>A	uc001gtu.2	-	20	9286	c.9029A>T	c.(9028-9030)AAA>ATA	p.K3010I	ASPM_uc001gtv.2_Missense_Mutation_p.K1425I|ASPM_uc001gtw.3_Missense_Mutation_p.K858I	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3010					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGCTCTCCATTTTCTCTGAAT	0.289													A	197063269	T	A	197063269	3	1	256	1	0	0	0	0	1	0	0	0	1056	1841	64	5	1440	5	ASPM	1	197063269	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	100000	197063269	52187352	7	126773											
GPR25	2848	broad.mit.edu	37	chr1	200842961	200842961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagcgccctgcgggccGtcttccacctggcgcgtctg	12	18	3	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:200842961G>A	uc001gvn.1	+	1	796	c.796G>A	c.(796-798)GTC>ATC	p.V266I		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	266	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1						CCTGCGGGCCGTCTTCCACCT	0.711													A	200842961	G	A	200842961	3	1	256	1	0	0	0	0	1	0	0	0	6683	1145	40	1	798	1	GPR25	1	200842961	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	3779692	200842961	48407660	8	126774											
USH2A	7399	broad.mit.edu	37	chr1	216420148	216420148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggacattgtcctgttgatTtgttacacagcagagagcca	10	8	0	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:216420148T>C	uc001hku.1	-	13	2975	c.2588A>G	c.(2587-2589)AAA>AGA	p.K863R	USH2A_uc001hkv.2_Missense_Mutation_p.K863R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	863	Laminin EGF-like 7.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTGTTGATTTGTTACACAG	0.423										HNSCC(13;0.011)			C	216420148	T	C	216420148	3	2	256	1	0	0	0	0	1	0	0	0	17033	1841	64	3	13274	3	USH2A	1	216420148	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	15577187	216420148	32830473	9	126775											
OBSCN	84033	broad.mit.edu	37	chr1	228509724	228509724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcatttcatctgcatccGttttgaggcgctcactgagg	11	10	3	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:228509724G>A	uc009xez.1	+	55	15226	c.15182G>A	c.(15181-15183)CGT>CAT	p.R5061H	OBSCN_uc001hsn.2_Missense_Mutation_p.R5061H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5061					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ATCTGCATCCGTTTTGAGGCG	0.602													A	228509724	G	A	228509724	3	1	256	1	0	0	0	0	1	0	0	0	10812	1145	40	1	15396	1	OBSCN	1	228509724	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	12089576	228509724	20740897	10	126776											
C1orf124	83932	broad.mit.edu	37	chr1	231487108	231487108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgacactggtggcgctgcaAtgggccgtgccagcacaggc	16	13	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:231487108A>G	uc001hur.2	+	4	957	c.509A>G	c.(508-510)AAT>AGT	p.N170S	C1orf124_uc001hus.2_Missense_Mutation_p.N170S|C1orf124_uc001hut.2_Missense_Mutation_p.N127S	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	170					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCGCTGCAATGGGCCGTGC	0.488													G	231487108	A	G	231487108	3	3	256	1	0	0	0	0	1	0	0	0	1992	101	4	3	523	3	C1orf124	1	231487108	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	2977384	231487108	17763513	11	126777											
KMO	8564	broad.mit.edu	37	chr1	241728342	241728342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatacctttatgatgaTtgcacttcctaacatggtag	7	7	0	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:241728342T>A	uc009xgp.2	+	8	736	c.671T>A	c.(670-672)ATT>AAT	p.I224N	KMO_uc001hyy.2_Missense_Mutation_p.I224N|KMO_uc009xgo.1_Missense_Mutation_p.I224N	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	224					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTTATGATGATTGCACTTCCT	0.284													A	241728342	T	A	241728342	3	1	256	1	0	0	0	0	1	0	0	0	8424	1493	52	5	701	5	KMO	1	241728342	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	10241234	241728342	7522279	12	126778											
OR2L3	391192	broad.mit.edu	37	chr1	248224871	248224871	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcctgaggaacaaggaggtGatgggggccctgacacgagt	17	8	0	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:248224871G>T	uc001idx.1	+	1	888	c.888G>T	c.(886-888)GTG>GTT	p.V296V	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			ACAAGGAGGTGATGGGGGCCC	0.507													T	248224871	G	T	248224871	2	4	256	1	0	0	0	0	0	0	0	1	11008	1277	45	5		5	OR2L3	1	248224871	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	6496529	248224871	1025750	13	126779											
FAM110C	642273	broad.mit.edu	37	chr2	46085	46085	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatttctgccggtagatgaTcagcgagtccggtctcaacg	12	11	3	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:46085T>A	uc010yim.1	-	1	301	c.301A>T	c.(301-303)ATC>TTC	p.I101F		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	hypothetical protein LOC642273	101						microtubule|microtubule organizing center|spindle pole					0	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)		CGGTAGATGATCAGCGAGTCC	0.512													A	46085	T	A	46085	3	1	256	1	0	0	0	0	1	0	0	0	5398	1435	50	5	672	5	FAM110C	2	46085	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08		46085	243153288	14	126780											
TPO	7173	broad.mit.edu	37	chr2	1488493	1488493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacgtgttctccacagcCgccttccgcttcggccatgc	8	18	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:1488493C>T	uc002qww.2	+	9	1555	c.1464C>T	c.(1462-1464)GCC>GCT	p.A488A	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.A488A|TPO_uc002qwr.2_Silent_p.A488A|TPO_uc002qwx.2_Silent_p.A488A|TPO_uc010yio.1_Silent_p.A315A|TPO_uc010yip.1_Silent_p.A488A|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	488	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	TCTCCACAGCCGCCTTCCGCT	0.662													T	1488493	C	T	1488493	2	4	256	1	0	0	0	0	0	0	0	1	16407	639	23	1		1	TPO	2	1488493	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	1442408	1488493	241710880	15	126781											
FAM98A	25940	broad.mit.edu	37	chr2	33817166	33817166	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagcaagaggaggcagttCttctgaatgagaaggcgctt	14	7	2	4			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:33817166C>T	uc002rpa.1	-	3	392	c.318G>A	c.(316-318)AAG>AAA	p.K106K	FAM98A_uc010yne.1_5'UTR	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	106										ovary(1)	1	all_hematologic(175;0.115)					GGAGGCAGTTCTTCTGAATGA	0.428													T	33817166	C	T	33817166	2	4	256	1	0	0	0	0	0	0	0	1	5656	912	32	4		4	FAM98A	2	33817166	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	32328673	33817166	209382207	16	126782											
USP34	9736	broad.mit.edu	37	chr2	61607324	61607324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttatctgactcaatccagCcaacctcatagtcaaagtag	6	11	4	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:61607324C>T	uc002sbe.2	-	7	1016	c.994G>A	c.(994-996)GCT>ACT	p.A332T		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	332					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CTCAATCCAGCCAACCTCATA	0.299													T	61607324	C	T	61607324	3	4	256	1	0	0	0	0	1	0	0	0	17062	739	26	2	9942	2	USP34	2	61607324	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	27790158	61607324	181592049	17	126783											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204395	125204395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagcctcctggatgacCagcactggcactcggtcctc	12	15	0	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:125204395C>A	uc002tno.2	+	6	1163	c.799C>A	c.(799-801)CAG>AAG	p.Q267K	CNTNAP5_uc010flu.2_Missense_Mutation_p.Q267K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	267	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTGGATGACCAGCACTGGCA	0.612													A	125204395	C	A	125204395	3	1	256	1	0	0	0	0	1	0	0	0	3650	595	21	5	821	5	CNTNAP5	2	125204395	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	63597071	125204395	117994978	18	126784											
NXPH2	11249	broad.mit.edu	37	chr2	139429072	139429072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccatgctgtctgcgtacGccatggggccgggcttgggc	15	12	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:139429072G>A	uc002tvi.2	-	2	215	c.215C>T	c.(214-216)GCG>GTG	p.A72V		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	72	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		GTCTGCGTACGCCATGGGGCC	0.547													A	139429072	G	A	139429072	3	1	256	1	0	0	0	0	1	0	0	0	10791	1087	38	1	583	1	NXPH2	2	139429072	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	14224677	139429072	103770301	19	126785											
CYTIP	9595	broad.mit.edu	37	chr2	158272339	158272339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagggagacatggatccGctgctggtgttactgatgct	13	9	0	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:158272339G>A	uc002tzj.1	-	8	1002	c.930C>T	c.(928-930)AGC>AGT	p.S310S	CYTIP_uc010zcl.1_Silent_p.S204S	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	310	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						ACATGGATCCGCTGCTGGTGT	0.512													A	158272339	G	A	158272339	2	1	256	1	0	0	0	0	0	0	0	1	4207	1078	38	1		1	CYTIP	2	158272339	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	18843267	158272339	84927034	20	126786											
CIR1	9541	broad.mit.edu	37	chr2	175216446	175216446	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attagctccgaggggtgcatCgatggccctgttcacaaaaa	11	10	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:175216446C>T	uc002uim.2	-	8	585	c.492G>A	c.(490-492)TCG>TCA	p.S164S	CIR1_uc002uin.2_Silent_p.S38S|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_Silent_p.S53S	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	164					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						AGGGGTGCATCGATGGCCCTG	0.438													T	175216446	C	T	175216446	2	4	256	1	0	0	0	0	0	0	0	1	3432	871	31	1		1	CIR1	2	175216446	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	16944107	175216446	67982927	21	126787											
TTN	7273	broad.mit.edu	37	chr2	179457001	179457001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctctaggtggcccaggtTtatctaaaaagtgttaaata	9	6	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:179457001T>G	uc010zfg.1	-	251	52150	c.51926A>C	c.(51925-51927)AAA>ACA	p.K17309T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K11004T|TTN_uc010zfi.1_Missense_Mutation_p.K10937T|TTN_uc010zfj.1_Missense_Mutation_p.K10812T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18236							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCCAGGTTTATCTAAAAA	0.318													G	179457001	T	G	179457001	3	3	256	1	0	0	0	0	1	0	0	0	16732	1841	64	5	48593	5	TTN	2	179457001	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	4240555	179457001	63742372	22	126788											
TTN	7273	broad.mit.edu	37	chr2	179479416	179479416	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acggtggcaggaagttcaatCttggtcccagcttttacagt	11	9	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:179479416C>G	uc010zfg.1	-	210	41345	c.41121G>C	c.(41119-41121)AAG>AAC	p.K13707N	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.K7402N|TTN_uc010zfi.1_Missense_Mutation_p.K7335N|TTN_uc010zfj.1_Missense_Mutation_p.K7210N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14634							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTCAATCTTGGTCCCAG	0.408													G	179479416	C	G	179479416	3	3	256	1	0	0	0	0	1	0	0	0	16732	912	32	5	59276	5	TTN	2	179479416	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	22415	179479416	63719957	23	126789											
PPP1R1C	151242	broad.mit.edu	37	chr2	182850873	182850873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaaagatacagtttgcCgtgcctgtattccagagtca	8	11	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:182850873C>T	uc002uoo.2	+	1	323	c.36C>T	c.(34-36)GCC>GCT	p.A12A	PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Silent_p.A12A|PPP1R1C_uc010frm.1_Silent_p.A12A|PPP1R1C_uc010frn.1_RNA	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	12					signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TACAGTTTGCCGTGCCTGTAT	0.443													T	182850873	C	T	182850873	2	4	256	1	0	0	0	0	0	0	0	1	12369	639	23	1		1	PPP1R1C	2	182850873	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	3371457	182850873	60348500	24	126790											
EPHA4	2043	broad.mit.edu	37	chr2	222429003	222429003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctctgagccccttctcGggtgatccaatcagttcgta	8	15	3	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:222429003G>A	uc002vmq.2	-	3	313	c.271C>T	c.(271-273)CGA>TGA	p.R91*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.R91*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R32*|EPHA4_uc010zln.1_Nonsense_Mutation_p.R91*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	91	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		GCCCCTTCTCGGGTGATCCAA	0.468													A	222429003	G	A	222429003	4	1	256	1	0	0	0	0	0	1	0	0	5169	1124	39	1	2749	1	EPHA4	2	222429003	Nonsense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	39578130	222429003	20770370	25	126791											
PAX3	5077	broad.mit.edu	37	chr2	223158908	223158908	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcgctcaggatgccgtcGatgctgtgtttggccttctt	12	12	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:223158908G>A	uc010fwo.2	-	4	930	c.564C>T	c.(562-564)ATC>ATT	p.I188I	PAX3_uc002vmt.1_Silent_p.I188I|PAX3_uc002vmy.1_Silent_p.I187I|PAX3_uc002vmv.1_Silent_p.I188I|PAX3_uc002vmw.1_Silent_p.I188I|PAX3_uc002vmx.1_Silent_p.I188I|PAX3_uc002vmz.1_Silent_p.I188I|PAX3_uc002vna.1_Silent_p.I188I	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	188					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/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		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)		GGATGCCGTCGATGCTGTGTT	0.592			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223158908	G	A	223158908	2	1	256	1	0	0	0	0	0	0	0	1	11480	1048	37	1		1	PAX3	2	223158908	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	729905	223158908	20040465	26	126792											
ZCWPW2	152098	broad.mit.edu	37	chr3	28533625	28533625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgtcttacagataaatcCgaaacacatgacaaagttgc	6	9	1	2	rs145732706		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:28533625C>T	uc003ceh.2	+	6	786	c.618C>T	c.(616-618)TCC>TCT	p.S206S	ZCWPW2_uc003cei.2_Silent_p.S206S|ZCWPW2_uc010hfo.2_Silent_p.S11S	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	206							zinc ion binding			ovary(2)	2						CAGATAAATCCGAAACACATG	0.294													T	28533625	C	T	28533625	2	4	256	1	0	0	0	0	0	0	0	1	17595	639	23	1		1	ZCWPW2	3	28533625	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08		28533625	169488805	27	126793											
STT3B	201595	broad.mit.edu	37	chr3	31658494	31658494	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaacaaaacaagagttccaGacccttttctttttgggtgt	7	8	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:31658494G>T	uc011axe.1	+	7	1050	c.1050G>T	c.(1048-1050)CAG>CAT	p.Q350H	STT3B_uc010hft.1_Missense_Mutation_p.Q350H|STT3B_uc003cer.1_Missense_Mutation_p.Q350H|STT3B_uc003cet.2_Missense_Mutation_p.Q101H	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	350					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						AAGAGTTCCAGACCCTTTTCT	0.408													T	31658494	G	T	31658494	3	4	256	1	0	0	0	0	1	0	0	0	15333	933	33	5	1076	5	STT3B	3	31658494	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	3124869	31658494	166363936	28	126794											
MYRIP	25924	broad.mit.edu	37	chr3	39942407	39942407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcttcgcaaaaaagaagaaGaacgactaaggtgagatgcc	10	7	1	4			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:39942407G>C	uc003cka.2	+	2	235	c.100G>C	c.(100-102)GAA>CAA	p.E34Q	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.E34Q|MYRIP_uc010hhw.2_5'UTR|MYRIP_uc010hhx.1_Missense_Mutation_p.E34Q	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	34	RabBD.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AAAAGAAGAAGAACGACTAAG	0.483													C	39942407	G	C	39942407	3	2	256	1	0	0	0	0	1	0	0	0	10100	943	33	5	102	5	MYRIP	3	39942407	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	8283913	39942407	158080023	29	126795											
PTPN23	25930	broad.mit.edu	37	chr3	47451047	47451047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggcgggtactcagcgaCttggaccaaaagtcagtgcc	14	11	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:47451047C>T	uc003crf.1	+	18	2034	c.1938C>T	c.(1936-1938)GAC>GAT	p.D646D	PTPN23_uc011baw.1_Silent_p.D611D|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.D516D	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	646					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACTCAGCGACTTGGACCAAA	0.642													T	47451047	C	T	47451047	2	4	256	1	0	0	0	0	0	0	0	1	12788	564	20	4		4	PTPN23	3	47451047	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	7508640	47451047	150571383	30	126796											
RNF123	63891	broad.mit.edu	37	chr3	49738938	49738938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagcttcgacgtgctccGctccgtcgtcttcttttaca	8	16	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:49738938G>A	uc003cxh.2	+	16	1378	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	RNF123_uc010hky.1_Missense_Mutation_p.R93H|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	431						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GACGTGCTCCGCTCCGTCGTC	0.632											OREG0015570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	49738938	G	A	49738938	3	1	256	1	0	0	0	0	1	0	0	0	13433	1087	38	1	1350	1	RNF123	3	49738938	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	2287891	49738938	148283492	31	126797											
UBA7	7318	broad.mit.edu	37	chr3	49845248	49845248	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtagctgtggcgaaaggcaCtacgaggccgtggcccactc	15	12	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:49845248C>A	uc003cxr.2	-	21	2807	c.2636G>T	c.(2635-2637)AGT>ATT	p.S879I		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	879					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGAAAGGCACTACGAGGCCG	0.582													A	49845248	C	A	49845248	3	1	256	1	0	0	0	0	1	0	0	0	16830	565	20	5	418	5	UBA7	3	49845248	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	106310	49845248	148177182	32	126798											
GRM2	2912	broad.mit.edu	37	chr3	51750017	51750017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcatcgcgctctgcaCgctttatgccttcaagactc	7	16	3	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:51750017C>T	uc010hlv.2	+	4	2467	c.2228C>T	c.(2227-2229)ACG>ATG	p.T743M	GRM2_uc003dbo.3_Missense_Mutation_p.T125M|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	743	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	GCGCTCTGCACGCTTTATGCC	0.577													T	51750017	C	T	51750017	3	4	256	1	0	0	0	0	1	0	0	0	6797	536	19	1	2238	1	GRM2	3	51750017	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	1904769	51750017	146272413	33	126799											
IQCF3	401067	broad.mit.edu	37	chr3	51864501	51864501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgtggggtcctggtgcGcaggaccctgctggttgctg	19	10	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:51864501G>A	uc010hlx.1	+	5	490	c.149G>A	c.(148-150)CGC>CAC	p.R50H	IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_RNA|IQCF3_uc011bdw.1_RNA	NM_001085479	NP_001078948	P0C7M6	IQCF3_HUMAN	IQ motif containing F3	50										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCCTGGTGCGCAGGACCCTG	0.617													A	51864501	G	A	51864501	3	1	256	1	0	0	0	0	1	0	0	0	7809	1087	38	1	159	1	IQCF3	3	51864501	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	114484	51864501	146157929	34	126800											
CACNA2D3	55799	broad.mit.edu	37	chr3	54798283	54798283	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaccttggctgatgtgcagGagaatgtcatggaatacctt	11	9	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:54798283G>T	uc003dhf.2	+	13	1333	c.1285G>T	c.(1285-1287)GAG>TAG	p.E429*	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.E335*|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.E163*	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	429	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGATGTGCAGGAGAATGTCAT	0.488													T	54798283	G	T	54798283	4	4	256	1	0	0	0	0	0	1	0	0	2550	1175	41	5	1335	5	CACNA2D3	3	54798283	Nonsense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	2933782	54798283	143224147	35	126801											
LRTM1	57408	broad.mit.edu	37	chr3	54958856	54958856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggtggcttatgttgtTtgatgacaaatcaagctccc	12	7	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:54958856T>C	uc003dhl.2	-	2	528	c.394A>G	c.(394-396)AAC>GAC	p.N132D	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	132	LRR 4.|Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTTATGTTGTTTGATGACAAA	0.473													C	54958856	T	C	54958856	3	2	256	1	0	0	0	0	1	0	0	0	9044	1841	64	3	651	3	LRTM1	3	54958856	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	160573	54958856	143063574	36	126802											
C3orf63	23272	broad.mit.edu	37	chr3	56667109	56667109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacactctcttcttcttcaTgaatataaaatttcacagta	3	10	5	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:56667109T>C	uc003did.3	-	17	3628	c.3527A>G	c.(3526-3528)CAT>CGT	p.H1176R	C3orf63_uc003dib.3_Missense_Mutation_p.H295R|C3orf63_uc003dic.3_Missense_Mutation_p.H800R|C3orf63_uc003die.3_Missense_Mutation_p.H1237R	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1237										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TTCTTCTTCATGAATATAAAA	0.318													C	56667109	T	C	56667109	3	2	256	1	0	0	0	0	1	0	0	0	2239	1464	51	3	1390	3	C3orf63	3	56667109	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	1708253	56667109	141355321	37	126803											
ROBO2	6092	broad.mit.edu	37	chr3	77572049	77572049	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcctctgctacactcaccgtCcgaggtaagagatttaagat	9	11	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:77572049C>G	uc003dpy.3	+	6	1573	c.930C>G	c.(928-930)GTC>GTG	p.V310V	ROBO2_uc003dpz.2_Silent_p.V310V|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.V310V	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	310	Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		CACTCACCGTCCGAGGTAAGA	0.368													G	77572049	C	G	77572049	2	3	256	1	0	0	0	0	0	0	0	1	13514	842	30	5		5	ROBO2	3	77572049	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	20904940	77572049	120450381	38	126804											
SENP7	57337	broad.mit.edu	37	chr3	101062717	101062717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgattatacttatttccGtcataatatctttcagcttc	3	10	3	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:101062717G>A	uc003dut.2	-	14	2030	c.1919C>T	c.(1918-1920)ACG>ATG	p.T640M	SENP7_uc003duu.2_Missense_Mutation_p.T575M|SENP7_uc003duv.2_Missense_Mutation_p.T607M|SENP7_uc003duw.2_Missense_Mutation_p.T574M|SENP7_uc003dux.2_Missense_Mutation_p.T476M	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	640					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ACTTATTTCCGTCATAATATC	0.338													A	101062717	G	A	101062717	3	1	256	1	0	0	0	0	1	0	0	0	14051	1145	40	1	1277	1	SENP7	3	101062717	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	23490668	101062717	96959713	39	126805											
TMPRSS7	344805	broad.mit.edu	37	chr3	111782387	111782387	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catagcctgccctgttggatCttttagatgctcctccggtt	9	12	1	1	rs140725969	by1000genomes	TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:111782387C>T	uc010hqb.2	+	10	1255	c.1085C>T	c.(1084-1086)TCT>TTT	p.S362F	TMPRSS7_uc011bhr.1_Missense_Mutation_p.S217F	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	488	LDL-receptor class A 1.|Extracellular (Potential).				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						CCTGTTGGATCTTTTAGATGC	0.413													T	111782387	C	T	111782387	3	4	256	1	0	0	0	0	1	0	0	0	16249	913	32	4	1119	4	TMPRSS7	3	111782387	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	10719670	111782387	86240043	40	126806											
ZBTB38	253461	broad.mit.edu	37	chr3	141162147	141162147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagctgctgttctcactcGttcaaaatctccaaacaatg	5	13	3	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:141162147G>A	uc003etw.2	+	8	1899	c.917G>A	c.(916-918)CGT>CAT	p.R306H	ZBTB38_uc010hun.2_Missense_Mutation_p.R303H|ZBTB38_uc010huo.2_Missense_Mutation_p.R306H|ZBTB38_uc003ety.2_Missense_Mutation_p.R306H|ZBTB38_uc010hup.2_Missense_Mutation_p.R307H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	306					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GTTCTCACTCGTTCAAAATCT	0.468													A	141162147	G	A	141162147	3	1	256	1	0	0	0	0	1	0	0	0	17536	1145	40	1	919	1	ZBTB38	3	141162147	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	29379760	141162147	56860283	41	126807											
TNFSF10	8743	broad.mit.edu	37	chr3	172224683	172224683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaggagtttattttgcGgcccagagccttttcattct	8	11	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:172224683G>A	uc003fid.2	-	5	540	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TNFSF10_uc003fie.2_Silent_p.A99A	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	149	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTTATTTTGCGGCCCAGAGCC	0.433													A	172224683	G	A	172224683	3	1	256	1	0	0	0	0	1	0	0	0	16298	1116	39	1	404	1	TNFSF10	3	172224683	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	31062536	172224683	25797747	42	126808											
PIGZ	80235	broad.mit.edu	37	chr3	196675164	196675164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggcgccggctccttgcGtgtagggccccacgttacat	12	16	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:196675164G>A	uc003fxh.2	-	3	751	c.604C>T	c.(604-606)CGC>TGC	p.R202C		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	202					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	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)		GGCTCCTTGCGTGTAGGGCCC	0.607													A	196675164	G	A	196675164	3	1	256	1	0	0	0	0	1	0	0	0	11905	1145	40	1	1139	1	PIGZ	3	196675164	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	24450481	196675164	1347266	43	126809											
KCNIP4	80333	broad.mit.edu	37	chr4	21305486	21305486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatttaacaaaaagcacaAtgacgatcagaactgctatc	5	8	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:21305486A>G	uc003gqf.1	-	1	44	c.44T>C	c.(43-45)ATT>ACT	p.I15T	KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron	NM_147183	NP_671712	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 4	Error:Variant_position_missing_in_Q6PIL6_after_alignment						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)				AAAAAGCACAATGACGATCAG	0.433													G	21305486	A	G	21305486	3	3	256	1	0	0	0	0	1	0	0	0	8042	101	4	3	785	3	KCNIP4	4	21305486	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08		21305486	169848790	44	126810											
ATP10D	57205	broad.mit.edu	37	chr4	47570926	47570926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagccctgccagagcaaGtgtcattaagtgaagattta	9	9	2	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:47570926G>A	uc003gxk.1	+	16	3090	c.2926G>A	c.(2926-2928)GTG>ATG	p.V976M	ATP10D_uc003gxl.1_Missense_Mutation_p.V224M	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	976	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						GCCAGAGCAAGTGTCATTAAG	0.493													A	47570926	G	A	47570926	3	1	256	1	0	0	0	0	1	0	0	0	1118	1029	36	4	2984	4	ATP10D	4	47570926	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	26265440	47570926	143583350	45	126811											
EPHA5	2044	broad.mit.edu	37	chr4	66361149	66361149	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagactctctcctgaaataAtccttttcacagacacaaga	4	12	3	4			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:66361149A>T	uc003hcy.2	-	4	1216	c.1023T>A	c.(1021-1023)GAT>GAA	p.D341E	EPHA5_uc003hcx.2_Missense_Mutation_p.D272E|EPHA5_uc003hcz.2_Missense_Mutation_p.D341E|EPHA5_uc011cah.1_Missense_Mutation_p.D341E|EPHA5_uc011cai.1_Missense_Mutation_p.D341E|EPHA5_uc003hda.2_Missense_Mutation_p.D341E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	341	Extracellular (Potential).|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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TCCTGAAATAATCCTTTTCAC	0.463										TSP Lung(17;0.13)			T	66361149	A	T	66361149	3	4	256	1	0	0	0	0	1	0	0	0	5170	98	4	5	2150	5	EPHA5	4	66361149	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	18790223	66361149	124793127	46	126812											
PPP3CA	5530	broad.mit.edu	37	chr4	102004367	102004367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcttgggcttcgtgggctCggagtatagataacaagtta	12	7	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:102004367C>T	uc011cen.1	-	7	1511	c.836G>A	c.(835-837)CGA>CAA	p.R279Q	PPP3CA_uc003hvu.2_Missense_Mutation_p.R279Q|PPP3CA_uc010ilj.2_Missense_Mutation_p.R279Q|PPP3CA_uc003hvt.2_Missense_Mutation_p.R266Q|PPP3CA_uc003hvs.2_Missense_Mutation_p.R212Q|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	279	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTCGTGGGCTCGGAGTATAGA	0.428													T	102004367	C	T	102004367	3	4	256	1	0	0	0	0	1	0	0	0	12397	884	31	1	761	1	PPP3CA	4	102004367	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	35643218	102004367	89149909	47	126813											
ANXA5	308	broad.mit.edu	37	chr4	122607448	122607448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagctaaatttacccaagCctttcatagccttccgaaga	7	11	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:122607448C>T	uc003idu.3	-	2	159	c.89G>A	c.(88-90)GGC>GAC	p.G30D	ANXA5_uc003idv.3_Missense_Mutation_p.G30D|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.G30D|ANXA5_uc010inn.2_Intron|ANXA5_uc010ino.2_Missense_Mutation_p.G30D	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	30	Annexin 1.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						TTTACCCAAGCCTTTCATAGC	0.378													T	122607448	C	T	122607448	3	4	256	1	0	0	0	0	1	0	0	0	721	739	26	2	917	2	ANXA5	4	122607448	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	20603081	122607448	68546828	48	126814											
KIAA1109	84162	broad.mit.edu	37	chr4	123268832	123268832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgtgttcaatgagcatAtgacaaacagcaccatgtca	7	9	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:123268832A>G	uc003ieh.2	+	74	13072	c.13027A>G	c.(13027-13029)ATG>GTG	p.M4343V	KIAA1109_uc003iem.2_Missense_Mutation_p.M699V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4343					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CAATGAGCATATGACAAACAG	0.473													G	123268832	A	G	123268832	3	3	256	1	0	0	0	0	1	0	0	0	8208	449	16	3	13321	3	KIAA1109	4	123268832	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	661384	123268832	67885444	49	126815											
NEK1	4750	broad.mit.edu	37	chr4	170483003	170483003	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgatccttttgtttcttttCtttttcaataaattccagcc	3	10	3	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:170483003C>G	uc003isb.1	-	13	1612	c.1120G>C	c.(1120-1122)GAA>CAA	p.E374Q	NEK1_uc003isc.1_Missense_Mutation_p.E374Q|NEK1_uc003isd.1_Missense_Mutation_p.E374Q|NEK1_uc003ise.1_Missense_Mutation_p.E374Q|NEK1_uc003isf.1_Missense_Mutation_p.E374Q|NEK1_uc003isg.1_Missense_Mutation_p.E295Q	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	374					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		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)		TGTTTCTTTTCTTTTTCAATA	0.303													G	170483003	C	G	170483003	3	3	256	1	0	0	0	0	1	0	0	0	10321	922	32	5	2744	5	NEK1	4	170483003	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	47214171	170483003	20671273	50	126816											
GPM6A	2823	broad.mit.edu	37	chr4	176594963	176594963	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacgcagctgcgatgccgtaGatcacatacttaaagatgtc	9	10	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:176594963G>T	uc003iuf.2	-	3	1059	c.255C>A	c.(253-255)ATC>ATA	p.I85I	GPM6A_uc011ckj.1_Silent_p.I78I|GPM6A_uc003iug.2_Silent_p.I85I|GPM6A_uc003iuh.2_Silent_p.I74I	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	85	Helical; (Potential).					cell surface|integral to membrane					0		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)		CGATGCCGTAGATCACATACT	0.398													T	176594963	G	T	176594963	2	4	256	1	0	0	0	0	0	0	0	1	6615	932	33	5		5	GPM6A	4	176594963	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	6111960	176594963	14559313	51	126817											
CDH18	1016	broad.mit.edu	37	chr5	19747254	19747254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagtggatatcacccGtggtatcgtcaatgataaat	10	6	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:19747254G>A	uc003jgc.2	-	3	697	c.320C>T	c.(319-321)ACG>ATG	p.T107M	CDH18_uc003jgd.2_Missense_Mutation_p.T107M|CDH18_uc011cnm.1_Missense_Mutation_p.T107M	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	107	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATATCACCCGTGGTATCGTC	0.438													A	19747254	G	A	19747254	3	1	256	1	0	0	0	0	1	0	0	0	3103	1145	40	1	2092	1	CDH18	5	19747254	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08		19747254	161168006	52	126818											
CDH10	1008	broad.mit.edu	37	chr5	24492978	24492979	+	Frame_Shift_Ins	INS	-	-	C													cagcagctaaactgaaaaaaINSaatttctgtccacctaaagg							TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:24492978_24492979insC	uc003jgr.1	-	10	1903_1904	c.1571_1572insG	c.(1570-1572)TTTfs	p.F524fs	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	524	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AACTGAAAAAAAATTTCTGTCC	0.322										HNSCC(23;0.051)			C	24492979	-	C	24492978	7	5	256	1	0	1	1	0	0	0	0	0	3096	11	1	0	806	0	CDH10	5	24492978	Frame_Shift_Ins	INS	-	TCGA-HU-8249-01A-11D-2340-08	4745724	24492978	156422282	53	126819	660	2									
CDH10	1008	broad.mit.edu	37	chr5	24492979	24492980	+	Frame_Shift_Ins	INS	-	-	C													agcagctaaactgaaaaaaaINSatttctgtccacctaaaggg							TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:24492978_24492979A>AC	uc003jgr.2	-	9	2077_2078	c.1571_1572T>GT	c.(1570-1572)tttfs	p.F524fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K523N(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)		AACTGAAAAAAAATTTCTGTCC	0.322										HNSCC(23;0.051)			C	24492980	-	C	24492979	7	5	256	1	0	1	1	0	0	0	0	0	3096	14	1	0	807	0	CDH10	5	24492979	Frame_Shift_Ins	INS	-	TCGA-HU-8249-01A-11D-2340-08	1	24492979	156422281	54	126820	660	2									
RXFP3	51289	broad.mit.edu	37	chr5	33937024	33937024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagttgccggacggcgCgccgccaggacatcccccgg	16	16	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:33937024C>T	uc003jic.1	+	1	536	c.179C>T	c.(178-180)GCG>GTG	p.A60V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCGGACGGCGCGCCGCCAGGA	0.701													T	33937024	C	T	33937024	3	4	256	1	0	0	0	0	1	0	0	0	13761	768	27	1	181	1	RXFP3	5	33937024	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	9444045	33937024	146978236	55	126821											
C6	729	broad.mit.edu	37	chr5	41149449	41149449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattctaactggcggccGtcttggcaggaaccaatatg	10	13	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:41149449G>A	uc003jmk.2	-	17	2727	c.2517C>T	c.(2515-2517)GAC>GAT	p.D839D	C6_uc003jml.1_Silent_p.D839D	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	839	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			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													A	41149449	G	A	41149449	2	1	256	1	0	0	0	0	0	0	0	1	2315	1136	40	1		1	C6	5	41149449	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	7212425	41149449	139765811	56	126822											
GPR98	84059	broad.mit.edu	37	chr5	89943472	89943472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttgaaaaaggagaaacGctcatttttgaggttggaag	12	5	1	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:89943472G>A	uc003kju.2	+	17	3276	c.3180G>A	c.(3178-3180)ACG>ACA	p.T1060T	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1060	Calx-beta 8.|Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		AAGGAGAAACGCTCATTTTTG	0.413													A	89943472	G	A	89943472	2	1	256	1	0	0	0	0	0	0	0	1	6721	1074	38	1		1	GPR98	5	89943472	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	48794023	89943472	90971788	57	126823											
TTC37	9652	broad.mit.edu	37	chr5	94803591	94803591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaataagctcatagtcatcTttggcatataagtgtctcag	7	8	5	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:94803591T>G	uc003klb.2	-	42	4869	c.4599A>C	c.(4597-4599)AAA>AAC	p.K1533N		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1533							binding			ovary(3)|pancreas(1)	4						CATAGTCATCTTTGGCATATA	0.358													G	94803591	T	G	94803591	3	3	256	1	0	0	0	0	1	0	0	0	16702	1606	56	5	103	5	TTC37	5	94803591	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	4860119	94803591	86111669	58	126824											
PCDHA2	56146	broad.mit.edu	37	chr5	140176666	140176666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcatcgccatctgcgCggtatccagcctgttggtgc	11	14	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:140176666C>T	uc003lhd.2	+	1	2223	c.2117C>T	c.(2116-2118)GCG>GTG	p.A706V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A706V|PCDHA2_uc011czy.1_Missense_Mutation_p.A706V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTATCCAGC	0.692													T	140176666	C	T	140176666	3	4	256	1	0	0	0	0	1	0	0	0	11524	768	27	1	2119	1	PCDHA2	5	140176666	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	45373075	140176666	40738594	59	126825											
FAT2	2196	broad.mit.edu	37	chr5	150932811	150932811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtggttcacagggtcCgtctccatgaccgtaaagct	10	12	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:150932811C>T	uc003lue.3	-	5	4096	c.4083G>A	c.(4081-4083)ACG>ACA	p.T1361T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1361	Extracellular (Potential).|Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACAGGGTCCGTCTCCATGA	0.587													T	150932811	C	T	150932811	2	4	256	1	0	0	0	0	0	0	0	1	5690	639	23	1		1	FAT2	5	150932811	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	10756145	150932811	29982449	60	126826											
TNXB	7148	broad.mit.edu	37	chr6	32017144	32017144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctccaggccccccacGgtgacctcgctctcctcgcc	10	22	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:32017144G>A	uc003nzl.2	-	28	9856	c.9654C>T	c.(9652-9654)ACC>ACT	p.T3218T	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3265	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGCCCCCCACGGTGACCTCGC	0.692													A	32017144	G	A	32017144	2	1	256	1	0	0	0	0	0	0	0	1	16343	1103	39	1		1	TNXB	6	32017144	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08		32017144	139097923	61	126827											
KIFC1	3833	broad.mit.edu	37	chr6	33373998	33373998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgcttcatctggcccGccagaatcgggctgtggccc	12	17	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:33373998G>T	uc003oef.3	+	8	2012	c.1562G>T	c.(1561-1563)CGC>CTC	p.R521L	KIFC1_uc011drf.1_Missense_Mutation_p.R513L	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	521	Kinesin-motor.				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				0						CATCTGGCCCGCCAGAATCGG	0.552													T	33373998	G	T	33373998	3	4	256	1	0	0	0	0	1	0	0	0	8312	1087	38	5	1592	5	KIFC1	6	33373998	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	1356854	33373998	137741069	62	126828											
DNAH8	1769	broad.mit.edu	37	chr6	38747759	38747759	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggtttcagaagctgaacaTtccctgtctgggattagaaa	10	7	2	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:38747759T>A	uc003ooe.1	+	13	2006	c.1406T>A	c.(1405-1407)ATT>AAT	p.I469N		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGCTGAACATTCCCTGTCTG	0.343													A	38747759	T	A	38747759	3	1	256	1	0	0	0	0	1	0	0	0	4607	1493	52	5	1448	5	DNAH8	6	38747759	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	5373761	38747759	132367308	63	126829											
CUL9	23113	broad.mit.edu	37	chr6	43183962	43183964	+	In_Frame_Del	DEL	AGT	AGT	-													cgcaccatgagcccccaggaAgtagaagggttgatgaagca							TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:43183961_43183963AAGT>A	uc003ouk.3	+	30	6077_6079	c.6002_6004AAGT>A	c.(6001-6006)gaagta>gAta	p.2001_2002EV>D	CUL9_uc003oul.3_In_Frame_Del_p.1973_1974EV>D|CUL9_uc010jyk.3_In_Frame_Del_p.1153_1154EV>D|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2001					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						AGCCCCCAGGAAGTAGAAGGGTT	0.586													-	43183964	AGT	-	43183962	7	5	256	1	0	1	0	1	0	0	0	0	4061	69	3	0	6121	0	CUL9	6	43183962	In_Frame_Del	DEL	AGT	TCGA-HU-8249-01A-11D-2340-08	4436203	43183962	127931105	64	126830											
SLC35B2	347734	broad.mit.edu	37	chr6	44224424	44224424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccctttcttcacacaccgGtctccaggtagttcttccgc	7	17	4	0	rs142335642		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:44224424G>T	uc003oxd.2	-	2	339	c.203C>A	c.(202-204)ACC>AAC	p.T68N	SLC35B2_uc011dvt.1_Missense_Mutation_p.P23T|SLC35B2_uc011dvu.1_Intron	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	68					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	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)			TCACACACCGGTCTCCAGGTA	0.557													T	44224424	G	T	44224424	3	4	256	1	0	0	0	0	1	0	0	0	14576	1261	44	5	1107	5	SLC35B2	6	44224424	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	1040462	44224424	126890643	65	126831											
TDRD6	221400	broad.mit.edu	37	chr6	46656738	46656738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtataccggggttccacGgggacaggggatgagaactc	16	9	0	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:46656738G>A	uc003oyj.2	+	1	873	c.873G>A	c.(871-873)ACG>ACA	p.T291T	TDRD6_uc010jze.2_Silent_p.T285T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	291					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GGGGTTCCACGGGGACAGGGG	0.637													A	46656738	G	A	46656738	2	1	256	1	0	0	0	0	0	0	0	1	15731	1103	39	1		1	TDRD6	6	46656738	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	2432314	46656738	124458329	66	126832											
HTR1B	3351	broad.mit.edu	37	chr6	78172800	78172800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggtgacagtgtacatGgtgctgatgggcatcaccag	15	10	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:78172800G>A	uc003pil.1	-	1	321	c.321C>T	c.(319-321)ACC>ACT	p.T107T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	107	Helical; Name=2; (By similarity).				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				0		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)	CAGTGTACATGGTGCTGATGG	0.602													A	78172800	G	A	78172800	2	1	256	1	0	0	0	0	0	0	0	1	7437	1335	47	4		4	HTR1B	6	78172800	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	31516062	78172800	92942267	67	126833											
SIM1	6492	broad.mit.edu	37	chr6	100895235	100895235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcacccatacccagcCgccgtgtttcgccaggaacc	9	18	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:100895235C>T	uc003pqj.3	-	8	1114	c.907G>A	c.(907-909)GGC>AGC	p.G303S	SIM1_uc010kcu.2_Missense_Mutation_p.G303S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	303	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		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)		CATACCCAGCCGCCGTGTTTC	0.587													T	100895235	C	T	100895235	3	4	256	1	0	0	0	0	1	0	0	0	14323	652	23	1	1409	1	SIM1	6	100895235	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	22722435	100895235	70219832	68	126834											
LAMA4	3910	broad.mit.edu	37	chr6	112460383	112460383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaacttctatgtcaaagCgagtcacctgaccaaatttc	6	11	3	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:112460383C>T	uc003pvu.2	-	24	3530	c.3221G>A	c.(3220-3222)CGC>CAC	p.R1074H	LAMA4_uc003pvv.2_Missense_Mutation_p.R1067H|LAMA4_uc003pvt.2_Missense_Mutation_p.R1067H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1074	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		TATGTCAAAGCGAGTCACCTG	0.473													T	112460383	C	T	112460383	3	4	256	1	0	0	0	0	1	0	0	0	8608	768	27	1	2314	1	LAMA4	6	112460383	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	11565148	112460383	58654684	69	126835											
HSF2	3298	broad.mit.edu	37	chr6	122733900	122733900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgacttgttggagaacatTaaaaggaaggtgagctattg	13	3	0	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:122733900T>G	uc003pyu.2	+	3	508	c.321T>G	c.(319-321)ATT>ATG	p.I107M	HSF2_uc003pyt.3_Missense_Mutation_p.I107M|HSF2_uc003pyv.2_Missense_Mutation_p.I107M	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	107	By similarity.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGGAGAACATTAAAAGGAAGG	0.393													G	122733900	T	G	122733900	3	3	256	1	0	0	0	0	1	0	0	0	7396	1742	61	5	331	5	HSF2	6	122733900	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	10273517	122733900	48381167	70	126836											
TMEM200A	114801	broad.mit.edu	37	chr6	130762455	130762455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctgtgatcaaacttaaTaactgtgttattgatgagcc	8	7	1	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:130762455T>G	uc003qca.2	+	3	1759	c.888T>G	c.(886-888)AAT>AAG	p.N296K	TMEM200A_uc010kfh.2_Missense_Mutation_p.N296K|TMEM200A_uc010kfi.2_Missense_Mutation_p.N296K|TMEM200A_uc003qcb.2_Missense_Mutation_p.N296K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	296	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCAAACTTAATAACTGTGTTA	0.398													G	130762455	T	G	130762455	3	3	256	1	0	0	0	0	1	0	0	0	16120	1403	49	5	890	5	TMEM200A	6	130762455	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	8028555	130762455	40352612	71	126837											
THBS2	7058	broad.mit.edu	37	chr6	169637779	169637779	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagggccccaagcagGtgttgctggtgacgtcacag	17	9	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:169637779G>C	uc003qwt.2	-	9	1489	c.1241C>G	c.(1240-1242)ACC>AGC	p.T414S		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	414	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CCCCAAGCAGGTGTTGCTGGT	0.662													C	169637779	G	C	169637779	3	2	256	1	0	0	0	0	1	0	0	0	15851	1261	44	5	2337	5	THBS2	6	169637779	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	38875324	169637779	1477288	72	126838											
MUC17	140453	broad.mit.edu	37	chr7	100685100	100685100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattatgcctctcagtaccaCgccggtggccagttctgagg	11	12	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:100685100C>T	uc003uxp.1	+	3	10456	c.10403C>T	c.(10402-10404)ACG>ATG	p.T3468M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3468	Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAGTACCACGCCGGTGGCC	0.493													T	100685100	C	T	100685100	3	4	256	1	0	0	0	0	1	0	0	0	9974	536	19	1	10413	1	MUC17	7	100685100	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08		100685100	58453563	73	126839											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519431	113519431	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctgtgattgcccgggtgggGattgcggtatgttcgctcag	17	8	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:113519431G>T	uc010ljy.1	-	4	1747	c.1716C>A	c.(1714-1716)ATC>ATA	p.I572I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	572					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CCCGGGTGGGGATTGCGGTAT	0.473													T	113519431	G	T	113519431	2	4	256	1	0	0	0	0	0	0	0	1	12371	1164	41	5		5	PPP1R3A	7	113519431	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	12834331	113519431	45619232	74	126840											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432339	117432339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtctgtctggcatgcaacaGaccttgtcacagttccttct	9	12	4	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:117432339G>A	uc003vjf.2	-	4	1003	c.911C>T	c.(910-912)TCT>TTT	p.S304F		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	304										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCATGCAACAGACCTTGTCAC	0.473													A	117432339	G	A	117432339	3	1	256	1	0	0	0	0	1	0	0	0	4045	942	33	4	4160	4	CTTNBP2	7	117432339	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	3912908	117432339	41706324	75	126841											
CNTNAP2	26047	broad.mit.edu	37	chr7	146471395	146471395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccacttgtctctggactcCcccatgtggctttcagcagc	9	15	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:146471395C>A	uc003weu.1	+	2	646	c.130C>A	c.(130-132)CCC>ACC	p.P44T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	44	F5/8 type C.|Extracellular (Potential).				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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			CTCTGGACTCCCCCATGTGGC	0.443										HNSCC(39;0.1)			A	146471395	C	A	146471395	3	1	256	1	0	0	0	0	1	0	0	0	3647	623	22	5	136	5	CNTNAP2	7	146471395	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	29039056	146471395	12667268	76	126842											
RBM33	155435	broad.mit.edu	37	chr7	155530991	155530991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggattctgcactttaGccagcctgggtcggcaacca	14	11	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:155530991G>A	uc010lqk.1	+	11	1999	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	RBM33_uc011kvv.1_Missense_Mutation_p.S353N	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	544	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	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)		CTGCACTTTAGCCAGCCTGGG	0.612													A	155530991	G	A	155530991	3	1	256	1	0	0	0	0	1	0	0	0	13130	971	34	2	1673	2	RBM33	7	155530991	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	9059596	155530991	3607672	77	126843											
FAM110B	90362	broad.mit.edu	37	chr8	59059489	59059489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccaaaatcgcagccatcGcctccatgaagtcccccgag	8	17	0	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr8:59059489G>A	uc003xtj.1	+	5	1580	c.700G>A	c.(700-702)GCC>ACC	p.A234T		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	234						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGCAGCCATCGCCTCCATGAA	0.612													A	59059489	G	A	59059489	3	1	256	1	0	0	0	0	1	0	0	0	5397	1087	38	1	702	1	FAM110B	8	59059489	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08		59059489	87304533	78	126844											
PKIA	5569	broad.mit.edu	37	chr8	79510750	79510750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attagccttgaaattagcagGtcttgatatcaacaagacag	8	7	2	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr8:79510750G>A	uc003yba.2	+	3	655	c.131G>A	c.(130-132)GGT>GAT	p.G44D	PKIA_uc003ybb.2_Missense_Mutation_p.G44D|PKIA_uc010lzo.2_Missense_Mutation_p.G44D	NM_006823	NP_006814	P61925	IPKA_HUMAN	cAMP-dependent protein kinase inhibitor alpha	44							cAMP-dependent protein kinase inhibitor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAATTAGCAGGTCTTGATATC	0.398													A	79510750	G	A	79510750	3	1	256	1	0	0	0	0	1	0	0	0	11973	1261	44	4	133	4	PKIA	8	79510750	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	20451261	79510750	66853272	79	126845											
CNGB3	54714	broad.mit.edu	37	chr8	87641191	87641191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatattcataccaagtccgaActcgcttttgcacaagttta	5	10	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr8:87641191A>G	uc003ydx.2	-	12	1482	c.1436T>C	c.(1435-1437)GTT>GCT	p.V479A	CNGB3_uc010maj.2_Missense_Mutation_p.V341A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	479	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						CCAAGTCCGAACTCGCTTTTG	0.423													G	87641191	A	G	87641191	3	3	256	1	0	0	0	0	1	0	0	0	3601	43	2	3	1021	3	CNGB3	8	87641191	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	8130441	87641191	58722831	80	126846											
LINGO2	158038	broad.mit.edu	37	chr9	27950155	27950155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctaagaagcccactgaatGccctgtgtgatatataaacc	8	10	0	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:27950155G>T	uc003zqu.1	-	2	709	c.515C>A	c.(514-516)GCA>GAA	p.A172E	LINGO2_uc010mjf.1_Missense_Mutation_p.A172E|LINGO2_uc003zqv.1_Missense_Mutation_p.A172E	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	172	LRR 5.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		CCCACTGAATGCCCTGTGTGA	0.453													T	27950155	G	T	27950155	3	4	256	1	0	0	0	0	1	0	0	0	8815	1319	46	5	1309	5	LINGO2	9	27950155	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08		27950155	113263276	81	126847											
TLN1	7094	broad.mit.edu	37	chr9	35697858	35697858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgggccagtttcttcCgcgcctcttccagctctcgt	10	15	4	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:35697858C>T	uc003zxt.2	-	57	7910	c.7556G>A	c.(7555-7557)CGG>CAG	p.R2519Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2519	I/LWEQ.				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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTTTCTTCCGCGCCTCTTC	0.527											OREG0019174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	35697858	C	T	35697858	3	4	256	1	0	0	0	0	1	0	0	0	15944	652	23	1	73	1	TLN1	9	35697858	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	7747703	35697858	105515573	82	126848											
OMD	4958	broad.mit.edu	37	chr9	95179787	95179787	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtttcatattggcaatgTactttgactccaaaaaagaa	6	6	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:95179787T>C	uc004asd.3	-	2	423	c.54A>G	c.(52-54)GTA>GTG	p.V18V	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin precursor	18					cell adhesion	proteinaceous extracellular matrix				ovary(2)	2						ATTGGCAATGTACTTTGACTC	0.343			T	USP6	aneurysmal bone cysts								C	95179787	T	C	95179787	2	2	256	1	0	0	0	0	0	0	0	1	10865	1625	57	3		3	OMD	9	95179787	Silent	SNP	T	TCGA-HU-8249-01A-11D-2340-08	59481929	95179787	46033644	83	126849											
FOXE1	2304	broad.mit.edu	37	chr9	100616561	100616561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgaggccggccgcccggGtaagggcaactactgggcgc	18	14	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:100616561G>A	uc004axu.2	+	1	1025	c.365G>A	c.(364-366)GGT>GAT	p.G122D		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	122	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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				0		Acute lymphoblastic leukemia(62;0.158)				GGCCGCCCGGGTAAGGGCAAC	0.637													A	100616561	G	A	100616561	3	1	256	1	0	0	0	0	1	0	0	0	6003	1261	44	4	367	4	FOXE1	9	100616561	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	5436774	100616561	40596870	84	126850											
SMC2	10592	broad.mit.edu	37	chr9	106874035	106874035	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggagcagaagcaactctTgctggtcaaatgatggcctg	13	8	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:106874035T>C	uc004bbv.2	+	10	1482	c.1194T>C	c.(1192-1194)CTT>CTC	p.L398L	SMC2_uc004bbu.1_Silent_p.L398L|SMC2_uc004bbw.2_Silent_p.L398L|SMC2_uc011lvl.1_Silent_p.L398L|SMC2_uc010mtg.1_Silent_p.L253L|SMC2_uc010mth.1_Silent_p.L348L|SMC2_uc004bbx.2_Silent_p.L398L	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	398	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						AAGCAACTCTTGCTGGTCAAA	0.423													C	106874035	T	C	106874035	2	2	256	1	0	0	0	0	0	0	0	1	14783	1799	63	3		3	SMC2	9	106874035	Silent	SNP	T	TCGA-HU-8249-01A-11D-2340-08	6257474	106874035	34339396	85	126851											
OR13C4	138804	broad.mit.edu	37	chr9	107289406	107289406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacataactagaatcagagCaaagaaaatgatctcaagtt	7	6	2	4			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:107289406C>T	uc011lvn.1	-	1	85	c.85G>A	c.(85-87)GCT>ACT	p.A29T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGAATCAGAGCAAAGAAAATG	0.408													T	107289406	C	T	107289406	3	4	256	1	0	0	0	0	1	0	0	0	10936	710	25	2	873	2	OR13C4	9	107289406	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	415371	107289406	33924025	86	126852											
ZNF462	58499	broad.mit.edu	37	chr9	109688314	109688314	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaccttcagagcaaaatTaaccaaaccaaacagcagga	6	11	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:109688314T>G	uc004bcz.2	+	3	2410	c.2121T>G	c.(2119-2121)ATT>ATG	p.I707M	ZNF462_uc010mto.2_Missense_Mutation_p.I555M|ZNF462_uc004bda.2_Missense_Mutation_p.I555M	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGAGCAAAATTAACCAAACCA	0.458													G	109688314	T	G	109688314	3	3	256	1	0	0	0	0	1	0	0	0	17923	1742	61	5	2127	5	ZNF462	9	109688314	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	2398908	109688314	31525117	87	126853											
OR1L1	26737	broad.mit.edu	37	chr9	125424622	125424622	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttggctgtcataatgaccCcgttttcatgcatcatcatc	7	12	4	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:125424622C>G	uc011lza.1	+	1	778	c.778C>G	c.(778-780)CCG>GCG	p.P260A		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	260	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CATAATGACCCCGTTTTCATG	0.413													G	125424622	C	G	125424622	3	3	256	1	0	0	0	0	1	0	0	0	10963	623	22	5	630	5	OR1L1	9	125424622	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	15736308	125424622	15788809	88	126854											
SPTAN1	6709	broad.mit.edu	37	chr9	131353779	131353779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggaaagtggaagtgaaCgatcgtcagggttttgtgcc	16	5	1	1	rs117332241	by1000genomes	TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:131353779C>T	uc004bvl.3	+	22	3143	c.3030C>T	c.(3028-3030)AAC>AAT	p.N1010N	SPTAN1_uc011mbg.1_Silent_p.N1010N|SPTAN1_uc011mbh.1_Silent_p.N1022N|SPTAN1_uc004bvm.3_Silent_p.N1010N|SPTAN1_uc004bvn.3_Silent_p.N1010N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1010	SH3.				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			breast(5)|ovary(4)|pancreas(1)	10						TGGAAGTGAACGATCGTCAGG	0.517													T	131353779	C	T	131353779	2	4	256	1	0	0	0	0	0	0	0	1	15116	535	19	1		1	SPTAN1	9	131353779	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	5929157	131353779	9859652	89	126855											
NUP188	23511	broad.mit.edu	37	chr9	131764194	131764194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctggagctggcatcaCccagagcatttgtttgcccc	12	12	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:131764194C>T	uc004bws.1	+	36	4098	c.4076C>T	c.(4075-4077)ACC>ATC	p.T1359I	NUP188_uc004bwu.2_Missense_Mutation_p.T702I	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1359					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GCTGGCATCACCCAGAGCATT	0.607													T	131764194	C	T	131764194	3	4	256	1	0	0	0	0	1	0	0	0	10758	507	18	4	4218	4	NUP188	9	131764194	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	410415	131764194	9449237	90	126856											
LIPN	643418	broad.mit.edu	37	chr10	90522041	90522041	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacagaattccttatgggCgaacacatgctaggagcaca	9	10	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr10:90522041C>T	uc010qmw.1	+	2	205	c.205C>T	c.(205-207)CGA>TGA	p.R69*		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	lipase-like, ab-hydrolase domain containing 4	69					lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TCCTTATGGGCGAACACATGC	0.443													T	90522041	C	T	90522041	4	4	256	1	0	0	0	0	0	1	0	0	8828	760	27	1	211	1	LIPN	10	90522041	Nonsense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08		90522041	45012706	91	126857											
LBX1	10660	broad.mit.edu	37	chr10	102988411	102988411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcaggtgcgccgccccGcacagcgagtaacttctccg	12	17	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr10:102988411G>A	uc001ksx.2	-	1	307	c.162C>T	c.(160-162)TGC>TGT	p.C54C	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	54				LTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLP -> YAVQHRGHPQQAVRAEKLLAAWGGAPAGRRGQARAGRL A (in Ref. 1; CAA62342).	muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GCGCCGCCCCGCACAGCGAGT	0.701													A	102988411	G	A	102988411	2	1	256	1	0	0	0	0	0	0	0	1	8653	1079	38	1		1	LBX1	10	102988411	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	12466370	102988411	32546336	92	126858											
MUC5B	727897	broad.mit.edu	37	chr11	1157553	1157553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagatggacgaccccaCggagcagtgtcaggaccctg	14	12	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:1157553C>T	uc009ycr.1	+	8	860	c.734C>T	c.(733-735)ACG>ATG	p.T245M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	241	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GACGACCCCACGGAGCAGTGT	0.627													T	1157553	C	T	1157553	3	4	256	1	0	0	0	0	1	0	0	0	9979	551	19	1		1	MUC5B	11	1157553	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08		1157553	133848963	93	126859											
LDHA	3939	broad.mit.edu	37	chr11	18428747	18428747	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctcagaccttgtgaaggtGactctgacttctgaggaaga	11	8	3	6			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:18428747G>T	uc001mok.3	+	8	1190	c.918G>T	c.(916-918)GTG>GTT	p.V306V	LDHA_uc010rdc.1_Silent_p.V248V|LDHA_uc009yhn.2_Silent_p.V305V|LDHA_uc009yho.2_Silent_p.V133V|LDHA_uc001mol.3_3'UTR|LDHA_uc010rdd.1_Silent_p.V335V	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	306					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)	TTGTGAAGGTGACTCTGACTT	0.423													T	18428747	G	T	18428747	2	4	256	1	0	0	0	0	0	0	0	1	8698	1277	45	5		5	LDHA	11	18428747	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	17271194	18428747	116577769	94	126860											
AGBL2	79841	broad.mit.edu	37	chr11	47711960	47711960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggtgagcaagtaaacGgtatttcctgctaggctcct	12	8	0	2	rs139207920		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:47711960G>A	uc001ngg.2	-	9	1399	c.1299C>T	c.(1297-1299)ACC>ACT	p.T433T	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Silent_p.T395T|AGBL2_uc001ngh.1_Silent_p.T377T	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	433					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GCAAGTAAACGGTATTTCCTG	0.498													A	47711960	G	A	47711960	2	1	256	1	0	0	0	0	0	0	0	1	376	1103	39	1		1	AGBL2	11	47711960	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	29283213	47711960	87294556	95	126861											
OR5J2	282775	broad.mit.edu	37	chr11	55944637	55944637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacttcttctgtgacattCcttcactgctaaagctgtca	6	13	4	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:55944637C>T	uc010rjb.1	+	1	544	c.544C>T	c.(544-546)CCT>TCT	p.P182S		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					CTGTGACATTCCTTCACTGCT	0.443													T	55944637	C	T	55944637	3	4	256	1	0	0	0	0	1	0	0	0	11165	855	30	4	546	4	OR5J2	11	55944637	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	8232677	55944637	79061879	96	126862											
OR5M10	390167	broad.mit.edu	37	chr11	56345162	56345162	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtcagtcctaagagaatGaattctgtcactatggtgtg	10	7	4	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:56345162G>T	uc001niz.1	-	1	36	c.36C>A	c.(34-36)TTC>TTA	p.F12L		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTAAGAGAATGAATTCTGTCA	0.453													T	56345162	G	T	56345162	3	4	256	1	0	0	0	0	1	0	0	0	11173	1281	45	5	915	5	OR5M10	11	56345162	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	400525	56345162	78661354	97	126863											
KIAA1377	57562	broad.mit.edu	37	chr11	101833060	101833060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctctaacccaggaagtgGctacatttccagaccaagag	8	11	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:101833060G>A	uc001pgm.2	+	6	1564	c.1294G>A	c.(1294-1296)GCT>ACT	p.A432T	KIAA1377_uc001pgn.2_Missense_Mutation_p.A388T|KIAA1377_uc010run.1_Missense_Mutation_p.A233T|KIAA1377_uc009yxa.1_Missense_Mutation_p.A233T	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	432							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCAGGAAGTGGCTACATTTCC	0.378													A	101833060	G	A	101833060	3	1	256	1	0	0	0	0	1	0	0	0	8227	1203	42	2	1316	2	KIAA1377	11	101833060	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	45487898	101833060	33173456	98	126864											
ATM	472	broad.mit.edu	37	chr11	108216477	108216478	+	Frame_Shift_Del	DEL	AA	AA	-													tctctatttaaaggaggtgcAaaaaaagtcttttgaagaga							TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:108216477_108216478delAA	uc001pkb.1	+	58	8811_8812	c.8426_8427delAA	c.(8425-8427)CAAfs	p.Q2809fs	ATM_uc009yxr.1_Frame_Shift_Del_p.Q2809fs|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Frame_Shift_Del_p.Q1461fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2809	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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		AAGGAGGTGCAAAAAAAGTCTT	0.243			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)			-	108216478	AA	-	108216477	7	5	256	1	0	1	0	1	0	0	0	0	1109	130	5	0	8652	0	ATM	11	108216477	Frame_Shift_Del	DEL	AA	TCGA-HU-8249-01A-11D-2340-08	6383417	108216477	26790039	99	126865											
NCAM1	4684	broad.mit.edu	37	chr11	113103891	113103891	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accccctcttcaccatccatCgaccaggtggagccatactc	6	18	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:113103891C>T	uc009yyq.1	+	14	1963	c.1269C>T	c.(1267-1269)ATC>ATT	p.I423I		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	515	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CACCATCCATCGACCAGGTGG	0.547													T	113103891	C	T	113103891	2	4	256	1	0	0	0	0	0	0	0	1	10202	874	31	1		1	NCAM1	11	113103891	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	4887414	113103891	21902625	100	126866											
APOA4	337	broad.mit.edu	37	chr11	116691672	116691672	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctccagctcagggagggagaGagtcttgtcctggctctctt	13	11	3	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:116691672G>A	uc001pps.1	-	3	1206	c.1102C>T	c.(1102-1104)CTC>TTC	p.L368F		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	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)		GGGAGGGAGAGAGTCTTGTCC	0.458													A	116691672	G	A	116691672	3	1	256	1	0	0	0	0	1	0	0	0	783	942	33	4	92	4	APOA4	11	116691672	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	3587781	116691672	18314844	101	126867											
VPS11	55823	broad.mit.edu	37	chr11	118947716	118947716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgacaatccctggccAatgccgaccataccaccctg	7	18	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:118947716A>G	uc010ryx.1	+	9	1390	c.1348A>G	c.(1348-1350)AAT>GAT	p.N450D	VPS11_uc010ryy.1_Missense_Mutation_p.N296D	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	450	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	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)		ATCCCTGGCCAATGCCGACCA	0.552													G	118947716	A	G	118947716	3	3	256	1	0	0	0	0	1	0	0	0	17185	130	5	3	1377	3	VPS11	11	118947716	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	2256044	118947716	16058800	102	126868											
ARHGEF12	23365	broad.mit.edu	37	chr11	120302617	120302617	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggcccagtagtgacaatgcAgatgtaagctttcagttttc	10	9	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:120302617A>T	uc001pxl.1	+	11	928	c.921A>T	c.(919-921)GCA>GCT	p.A307A	ARHGEF12_uc009zat.2_Silent_p.A288A|ARHGEF12_uc010rzn.1_Silent_p.A204A|ARHGEF12_uc009zau.1_Silent_p.A204A	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	307					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			lung(2)|breast(2)|skin(2)|ovary(1)	7		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)		GTGACAATGCAGATGTAAGCT	0.418			T	MLL	AML								T	120302617	A	T	120302617	2	4	256	1	0	0	0	0	0	0	0	1	897	175	7	5		5	ARHGEF12	11	120302617	Silent	SNP	A	TCGA-HU-8249-01A-11D-2340-08	1354901	120302617	14703899	103	126869											
KCNA1	3736	broad.mit.edu	37	chr12	5020969	5020969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcaaggaggaggagcGccctctgcccgagaaggagt	14	11	3	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:5020969G>A	uc001qnh.2	+	2	1530	c.425G>A	c.(424-426)CGC>CAC	p.R142H		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	142					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGGAGGAGCGCCCTCTGCCC	0.627													A	5020969	G	A	5020969	3	1	256	1	0	0	0	0	1	0	0	0	8001	1087	38	1	427	1	KCNA1	12	5020969	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08		5020969	128830926	104	126870											
PRB4	5545	broad.mit.edu	37	chr12	11461525	11461525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggaggtgggggacggtggGactggttgcctccttgtggg	22	6	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:11461525G>T	uc001qzf.1	-	3	426	c.392C>A	c.(391-393)TCC>TAC	p.S131Y	PRB4_uc001qzt.2_Missense_Mutation_p.S131Y	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	194	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|8.					extracellular region				ovary(1)	1						GGGACGGTGGGACTGGTTGCC	0.597										HNSCC(22;0.051)			T	11461525	G	T	11461525	3	4	256	1	0	0	0	0	1	0	0	0	12445	1174	41	5	355	5	PRB4	12	11461525	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	6440556	11461525	122390370	105	126871											
ITPR2	3709	broad.mit.edu	37	chr12	26580960	26580961	+	Frame_Shift_Ins	INS	-	-	AT													gcttggagaagaaaaacagcINSatagatgtgcagatcgcaac							TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:26580960_26580961insAT	uc001rhg.2	-	49	7247_7248	c.6830_6831insAT	c.(6829-6831)ATGfs	p.M2277fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.M428fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2277	Helical; (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AGAAAAACAGCATAGATGTGCA	0.376													AT	26580961	-	AT	26580960	7	5	256	1	0	1	1	0	0	0	0	0	7921	710	25	0	1310	0	ITPR2	12	26580960	Frame_Shift_Ins	INS	-	TCGA-HU-8249-01A-11D-2340-08	15119435	26580960	107270935	106	126872	661	2									
ITPR2	3709	broad.mit.edu	37	chr12	26580961	26580962	+	Frame_Shift_Ins	INS	-	-	AT													cttggagaagaaaaacagcaINStagatgtgcagatcgcaact							TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:26580960_26580961C>CAT	uc001rhg.3	-	48	7247_7248	c.6830_6831G>ATG	c.(6829-6831)atgfs	p.M2277fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.M428fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2277					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)					AGAAAAACAGCATAGATGTGCA	0.376													AT	26580962	-	AT	26580961	7	5	256	1	0	1	1	0	0	0	0	0	7921	217	8	0	1311	0	ITPR2	12	26580961	Frame_Shift_Ins	INS	-	TCGA-HU-8249-01A-11D-2340-08	1	26580961	107270934	107	126873	661	2									
ALG10B	144245	broad.mit.edu	37	chr12	38714307	38714307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaattcttcagtttcttttGgcttattccatgtcctttaa	4	8	3	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:38714307G>T	uc001rln.3	+	3	853	c.714G>T	c.(712-714)TTG>TTT	p.L238F	ALG10B_uc001rlo.3_Missense_Mutation_p.L208F|ALG10B_uc010skk.1_Missense_Mutation_p.L178F	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	238	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTTCTTTTGGCTTATTCCA	0.368													T	38714307	G	T	38714307	3	4	256	1	0	0	0	0	1	0	0	0	512	1339	47	5	724	5	ALG10B	12	38714307	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	12133346	38714307	95137588	108	126874											
MBD6	114785	broad.mit.edu	37	chr12	57919589	57919589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagcaataatctccccGcccaccctggtcctgcctct	6	21	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:57919589G>A	uc001soj.1	+	6	1062	c.838G>A	c.(838-840)GCC>ACC	p.A280T	MBD6_uc001sok.1_Missense_Mutation_p.A147T|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	280	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TAATCTCCCCGCCCACCCTGG	0.667													A	57919589	G	A	57919589	3	1	256	1	0	0	0	0	1	0	0	0	9348	1087	38	1	852	1	MBD6	12	57919589	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	19205282	57919589	75932306	109	126875											
DPY19L2	283417	broad.mit.edu	37	chr12	64020294	64020294	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtactgtaataagacctccCagttgagtcccactgtaaaa	7	10	0	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:64020294C>G	uc001srp.1	-	7	997	c.816G>C	c.(814-816)CTG>CTC	p.L272L	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	272	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TAAGACCTCCCAGTTGAGTCC	0.318													G	64020294	C	G	64020294	2	3	256	1	0	0	0	0	0	0	0	1	4741	581	21	5		5	DPY19L2	12	64020294	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	6100705	64020294	69831601	110	126876											
CPM	1368	broad.mit.edu	37	chr12	69265719	69265719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcaatcagatggagcagCagctcccgcccaacagtcta	9	13	3	1	rs144566244		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:69265719C>T	uc001sup.2	-	4	337	c.276G>A	c.(274-276)CTG>CTA	p.L92L	CPM_uc001sur.2_Silent_p.L92L|CPM_uc001suq.2_Silent_p.L92L	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	92					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	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)			GATGGAGCAGCAGCTCCCGCC	0.438													T	69265719	C	T	69265719	2	4	256	1	0	0	0	0	0	0	0	1	3808	697	25	2		2	CPM	12	69265719	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	5245425	69265719	64586176	111	126877											
RASAL1	8437	broad.mit.edu	37	chr12	113543594	113543594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcttgaaggcaaagcgCgtggccaggccggcaggctc	15	13	1	1	rs139573405		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:113543594C>T	uc001tum.1	-	17	2045	c.1752G>A	c.(1750-1752)ACG>ACA	p.T584T	RASAL1_uc010syp.1_Silent_p.T585T|RASAL1_uc001tul.2_Silent_p.T584T|RASAL1_uc001tun.1_Silent_p.T586T|RASAL1_uc010syq.1_Silent_p.T585T|RASAL1_uc001tuo.3_Silent_p.T585T	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	584	PH.				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			ovary(2)|skin(2)	4						AGGCAAAGCGCGTGGCCAGGC	0.627													T	113543594	C	T	113543594	2	4	256	1	0	0	0	0	0	0	0	1	13063	755	27	1		1	RASAL1	12	113543594	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	44277875	113543594	20308301	112	126878											
MAB21L1	4081	broad.mit.edu	37	chr13	36049332	36049332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaagtagtggggacacCgccggcactgcaggcaggag	17	9	0	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:36049332C>T	uc001uvc.2	-	1	1501	c.944G>A	c.(943-945)CGG>CAG	p.R315Q	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	315					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		GTGGGGACACCGCCGGCACTG	0.542													T	36049332	C	T	36049332	3	4	256	1	0	0	0	0	1	0	0	0	9141	652	23	1	139	1	MAB21L1	13	36049332	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08		36049332	79120546	113	126879											
DCLK1	9201	broad.mit.edu	37	chr13	36410222	36410222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctcctattgttcttcCgactttatatcgttctgtta	4	11	3	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:36410222C>T	uc001uvf.2	-	8	1410	c.1177G>A	c.(1177-1179)GGA>AGA	p.G393R	DCLK1_uc001uve.3_Missense_Mutation_p.G86R|DCLK1_uc010teh.1_Missense_Mutation_p.G86R|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	393	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			stomach(6)|ovary(2)|skin(1)	9		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)		ATTGTTCTTCCGACTTTATAT	0.368													T	36410222	C	T	36410222	3	4	256	1	0	0	0	0	1	0	0	0	4291	661	23	1	1056	1	DCLK1	13	36410222	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	360890	36410222	78759656	114	126880											
PIBF1	10464	broad.mit.edu	37	chr13	73505334	73505334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagaagagtgcttcaattaGaaaaacaaaactcgctgatt	7	7	1	4			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:73505334G>A	uc001vjc.2	+	14	2067	c.1762G>A	c.(1762-1764)GAA>AAA	p.E588K	PIBF1_uc001vjb.2_Missense_Mutation_p.E588K|PIBF1_uc010aep.2_Missense_Mutation_p.E47K	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	588						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCTTCAATTAGAAAAACAAAA	0.323													A	73505334	G	A	73505334	3	1	256	1	0	0	0	0	1	0	0	0	11879	943	33	4	1812	4	PIBF1	13	73505334	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	37095112	73505334	41664544	115	126881											
RAP2A	5911	broad.mit.edu	37	chr13	98116679	98116679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagatgacccatgctgttctGcatgtaacatacaatagcat	7	9	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:98116679G>T	uc001vnd.2	+	2	785	c.535G>T	c.(535-537)GCA>TCA	p.A179S		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	179					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ATGCTGTTCTGCATGTAACAT	0.453													T	98116679	G	T	98116679	3	4	256	1	0	0	0	0	1	0	0	0	13040	1319	46	5	541	5	RAP2A	13	98116679	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	24611345	98116679	17053199	116	126882											
MYO16	23026	broad.mit.edu	37	chr13	109793302	109793302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcgtcccccggcctggCgctgttcaacgggtccggcc	14	19	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:109793302C>T	uc001vqt.1	+	32	4802	c.4676C>T	c.(4675-4677)GCG>GTG	p.A1559V	MYO16_uc010agk.1_Missense_Mutation_p.A1581V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1559	Pro-rich.				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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			CCCGGCCTGGCGCTGTTCAAC	0.617													T	109793302	C	T	109793302	3	4	256	1	0	0	0	0	1	0	0	0	10064	768	27	1	4798	1	MYO16	13	109793302	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	11676623	109793302	5376576	117	126883											
RAB2B	84932	broad.mit.edu	37	chr14	21936528	21936528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttacctcttattcccaAtgagcatgataaccatgttg	5	9	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:21936528A>G	uc010tlt.1	-	5	451	c.350T>C	c.(349-351)ATT>ACT	p.I117T	RAB2B_uc010tls.1_Missense_Mutation_p.I71T|RAB2B_uc001wax.2_Missense_Mutation_p.I52T|RAB2B_uc010ain.2_Intron	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	117					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CTTATTCCCAATGAGCATGAT	0.358													G	21936528	A	G	21936528	3	3	256	1	0	0	0	0	1	0	0	0	12918	101	4	3	316	3	RAB2B	14	21936528	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08		21936528	85413012	118	126884											
TGM1	7051	broad.mit.edu	37	chr14	24731015	24731015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcgtcgtactcatactcgtCtgtgtggtgctctcggcggt	12	12	3	0	rs2229462	byFrequency	TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:24731015C>T	uc001wod.2	-	3	518	c.394G>A	c.(394-396)GAC>AAC	p.D132N	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	132					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCATACTCGTCTGTGTGGTGC	0.587													T	24731015	C	T	24731015	3	4	256	1	0	0	0	0	1	0	0	0	15826	913	32	4	2111	4	TGM1	14	24731015	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	2794487	24731015	82618525	119	126885											
NOVA1	4857	broad.mit.edu	37	chr14	26917189	26917189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccactttctgaggattggcAgcccgaactccttgctcata	8	14	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:26917189A>G	uc001wpy.2	-	5	1818	c.1500T>C	c.(1498-1500)GCT>GCC	p.A500A	NOVA1_uc001wpz.2_Silent_p.A476A|NOVA1_uc001wqa.2_Silent_p.A378A	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	503					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		GAGGATTGGCAGCCCGAACTC	0.448													G	26917189	A	G	26917189	2	3	256	1	0	0	0	0	0	0	0	1	10554	175	7	3		3	NOVA1	14	26917189	Silent	SNP	A	TCGA-HU-8249-01A-11D-2340-08	2186174	26917189	80432351	120	126886											
AKAP6	9472	broad.mit.edu	37	chr14	33205031	33205031	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttcatcttcaattcctgTctgagacaagaaaaggaagg	8	8	4	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:33205031T>A	uc001wrq.2	+	11	3485	c.3315T>A	c.(3313-3315)TGT>TGA	p.C1105*		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1105	Spectrin 2.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		TCAATTCCTGTCTGAGACAAG	0.373													A	33205031	T	A	33205031	4	1	256	1	0	0	0	0	0	1	0	0	455	1673	58	5	3353	5	AKAP6	14	33205031	Nonsense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	6287842	33205031	74144509	121	126887											
PTGDR	5729	broad.mit.edu	37	chr14	52734759	52734759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccgacttgctgggcaAgtgcctcctaagcccggtgg	14	13	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:52734759A>G	uc001wzq.2	+	1	329	c.227A>G	c.(226-228)AAG>AGG	p.K76R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TTGCTGGGCAAGTGCCTCCTA	0.672													G	52734759	A	G	52734759	3	3	256	1	0	0	0	0	1	0	0	0	12741	72	3	3	229	3	PTGDR	14	52734759	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	19529728	52734759	54614781	122	126888											
SMOC1	64093	broad.mit.edu	37	chr14	70478205	70478205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctctcttttcccagctaCgtgatgcccagttgtgagag	9	11	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:70478205C>T	uc001xls.1	+	9	1114	c.861C>T	c.(859-861)TAC>TAT	p.Y287Y	SMOC1_uc001xlt.1_Silent_p.Y287Y	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	287	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TTCCCAGCTACGTGATGCCCA	0.582													T	70478205	C	T	70478205	2	4	256	1	0	0	0	0	0	0	0	1	14801	547	19	1		1	SMOC1	14	70478205	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	17743446	70478205	36871335	123	126889											
TMEM90A	646658	broad.mit.edu	37	chr14	74876111	74876111	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtctggatggtgacattctCtgcagcttggccaggtcctg	13	10	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:74876111C>T	uc001xpx.2	-	2	585	c.337G>A	c.(337-339)GAG>AAG	p.E113K		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	113					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		GTGACATTCTCTGCAGCTTGG	0.597													T	74876111	C	T	74876111	3	4	256	1	0	0	0	0	1	0	0	0	16215	922	32	4	391	4	TMEM90A	14	74876111	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	4397906	74876111	32473429	124	126890											
RYR3	6263	broad.mit.edu	37	chr15	33993251	33993251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacaacaatgagttagcGctgagcttagaggaaccaga	12	7	0	4			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:33993251G>A	uc001zhi.2	+	42	6523	c.6453G>A	c.(6451-6453)GCG>GCA	p.A2151A	RYR3_uc010bar.2_Silent_p.A2151A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2151	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		ATGAGTTAGCGCTGAGCTTAG	0.567											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33993251	G	A	33993251	2	1	256	1	0	0	0	0	0	0	0	1	13770	1074	38	1		1	RYR3	15	33993251	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08		33993251	68538141	125	126891											
FBN1	2200	broad.mit.edu	37	chr15	48807662	48807662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggagttggaatgcagcGtccattttgacagagatagc	12	9	0	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:48807662G>A	uc001zwx.1	-	12	1718	c.1390C>T	c.(1390-1392)CGC>TGC	p.R464C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	464	EGF-like 6.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAATGCAGCGTCCATTTTGA	0.483													A	48807662	G	A	48807662	3	1	256	1	0	0	0	0	1	0	0	0	5702	1145	40	1	7445	1	FBN1	15	48807662	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	14814411	48807662	53723730	126	126892											
MYO9A	4649	broad.mit.edu	37	chr15	72189824	72189824	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaatactcatattgtcctTtggagtgaagaaaatgggcc	12	6	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:72189824T>G	uc002atl.3	-	25	5493	c.5020A>C	c.(5020-5022)AAG>CAG	p.K1674Q	MYO9A_uc010biq.2_Missense_Mutation_p.K1294Q|MYO9A_uc002atn.1_Missense_Mutation_p.K1655Q|MYO9A_uc002atk.2_Missense_Mutation_p.K398Q|MYO9A_uc002atm.1_Missense_Mutation_p.K398Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1674	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			ovary(1)|pancreas(1)|skin(1)	3						ATATTGTCCTTTGGAGTGAAG	0.383													G	72189824	T	G	72189824	3	3	256	1	0	0	0	0	1	0	0	0	10084	1850	64	5	2698	5	MYO9A	15	72189824	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	23382162	72189824	30341568	127	126893											
ARNT2	9915	broad.mit.edu	37	chr15	80855457	80855457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaaaggccaagtcctgtCggtcatgtatcgatttcgca	11	10	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:80855457C>T	uc002bfr.2	+	12	1359	c.1193C>T	c.(1192-1194)TCG>TTG	p.S398L	ARNT2_uc010unm.1_Missense_Mutation_p.S387L|ARNT2_uc002bfs.2_Missense_Mutation_p.S387L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	398	PAC.				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			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CAAGTCCTGTCGGTCATGTAT	0.502													T	80855457	C	T	80855457	3	4	256	1	0	0	0	0	1	0	0	0	966	893	31	1	1239	1	ARNT2	15	80855457	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	8665633	80855457	21675935	128	126894											
PRR25	388199	broad.mit.edu	37	chr16	855813	855813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggaactcctgccatgcGggccccttctcacaagggga	12	14	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:855813G>A	uc010uut.1	+	1	371	c.371G>A	c.(370-372)CGG>CAG	p.R124Q		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	124	Pro-rich.									large_intestine(1)	1						CCTGCCATGCGGGCCCCTTCT	0.652													A	855813	G	A	855813	3	1	256	1	0	0	0	0	1	0	0	0	12597	1116	39	1	373	1	PRR25	16	855813	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08		855813	89498940	129	126895											
ABCC6	368	broad.mit.edu	37	chr16	16295962	16295962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttgcaggcaggctgagaGgaacatcagcacggcgagga	16	9	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:16295962G>A	uc002den.3	-	9	1109	c.1072C>T	c.(1072-1074)CTC>TTC	p.L358F	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.L370F	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	358	Helical; Name=7; (By similarity).|ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAGGCTGAGAGGAACATCAGC	0.572													A	16295962	G	A	16295962	3	1	256	1	0	0	0	0	1	0	0	0	57	1000	35	4	3531	4	ABCC6	16	16295962	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	15440149	16295962	74058791	130	126896											
PALB2	79728	broad.mit.edu	37	chr16	23647258	23647258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatctggaagttcagaTttaagacttaaaaggtgagt	12	3	2	4			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:23647258T>C	uc002dlx.1	-	4	809	c.609A>G	c.(607-609)AAA>AAG	p.K203K		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	203	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GAAGTTCAGATTTAAGACTTA	0.373			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				C	23647258	T	C	23647258	2	2	256	1	0	0	0	0	0	0	0	1	11406	1490	52	3		3	PALB2	16	23647258	Silent	SNP	T	TCGA-HU-8249-01A-11D-2340-08	7351296	23647258	66707495	131	126897											
NLRC5	84166	broad.mit.edu	37	chr16	57060526	57060526	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accaaagctagactgggcctCtcagaccacctccccacctt	6	18	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:57060526C>G	uc002ekk.1	+	6	1896	c.1671C>G	c.(1669-1671)CTC>CTG	p.L557L	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.L362L|NLRC5_uc002ekl.2_Silent_p.L362L|NLRC5_uc002ekm.2_Silent_p.L362L|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	557					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			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GACTGGGCCTCTCAGACCACC	0.617													G	57060526	C	G	57060526	2	3	256	1	0	0	0	0	0	0	0	1	10470	900	32	5		5	NLRC5	16	57060526	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	33413268	57060526	33294227	132	126898											
ZFHX3	463	broad.mit.edu	37	chr16	72992903	72992903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggccagcggcggagcccGctgggagagcttcctcccct	16	16	0	1	rs142313117		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:72992903G>A	uc002fck.2	-	2	1815	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	381					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCGGAGCCCGCTGGGAGAGC	0.592													A	72992903	G	A	72992903	3	1	256	1	0	0	0	0	1	0	0	0	17631	1087	38	1	10005	1	ZFHX3	16	72992903	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	15932377	72992903	17361850	133	126899											
KDM6B	23135	broad.mit.edu	37	chr17	7754452	7754452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgggatctgacaggcactCggcagatctggccttgtgag	14	10	2	3			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr17:7754452C>T	uc002giw.1	+	14	4163	c.3787C>T	c.(3787-3789)CGG>TGG	p.R1263W	KDM6B_uc002gix.2_Missense_Mutation_p.R565W	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1263					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)|pancreas(1)	2						GACAGGCACTCGGCAGATCTG	0.592													T	7754452	C	T	7754452	3	4	256	1	0	0	0	0	1	0	0	0	8138	875	31	1	3829	1	KDM6B	17	7754452	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08		7754452	73440758	134	126900											
MED24	9862	broad.mit.edu	37	chr17	38186032	38186032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgacagtgggctccgccCggaggatcagctggatgttg	16	9	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr17:38186032C>T	uc002htt.2	-	13	1548	c.1235G>A	c.(1234-1236)CGG>CAG	p.R412Q	MED24_uc010wes.1_Missense_Mutation_p.R272Q|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.R437Q|MED24_uc002htu.2_Missense_Mutation_p.R399Q|MED24_uc010cwn.2_Missense_Mutation_p.R399Q|MED24_uc010weu.1_Missense_Mutation_p.R322Q|MED24_uc010wev.1_Missense_Mutation_p.R362Q|MED24_uc010wew.1_Missense_Mutation_p.R341Q|MED24_uc010wex.1_Missense_Mutation_p.R117Q	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	412					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			ovary(1)	1	Colorectal(19;0.000442)					GGGCTCCGCCCGGAGGATCAG	0.567													T	38186032	C	T	38186032	3	4	256	1	0	0	0	0	1	0	0	0	9442	652	23	1	1790	1	MED24	17	38186032	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	30431580	38186032	43009178	135	126901											
TANC2	26115	broad.mit.edu	37	chr17	61498102	61498102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatccaaaatggcccagCggccctaccagatgcctcag	8	15	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr17:61498102C>T	uc002jal.3	+	25	4782	c.4759C>T	c.(4759-4761)CGG>TGG	p.R1587W	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.R698W	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1587							binding			ovary(2)	2						AATGGCCCAGCGGCCCTACCA	0.577													T	61498102	C	T	61498102	3	4	256	1	0	0	0	0	1	0	0	0	15542	759	27	1	4857	1	TANC2	17	61498102	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	23312070	61498102	19697108	136	126902											
MIER2	54531	broad.mit.edu	37	chr19	334463	334463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacctcgaggcctcctcGcactcccccctaacactgta	8	19	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:334463G>A	uc002lok.1	-	3	189	c.180C>T	c.(178-180)TGC>TGT	p.C60C		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		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)		AGGCCTCCTCGCACTCCCCCC	0.592													A	334463	G	A	334463	2	1	256	1	0	0	0	0	0	0	0	1	9581	1079	38	1		1	MIER2	19	334463	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08		334463	58794520	137	126903											
RNF126	55658	broad.mit.edu	37	chr19	648886	648886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagctctcatacctacGtgctcctcagtgacggggac	12	13	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:648886G>A	uc010drs.2	-	7	772	c.666C>T	c.(664-666)CAC>CAT	p.H222H	RNF126_uc002lpi.2_Silent_p.H46H	NM_194460	NP_919442	Q9BV68	RN126_HUMAN	ring finger protein 126	222							protein binding|zinc ion binding				0		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)		TCATACCTACGTGCTCCTCAG	0.308													A	648886	G	A	648886	2	1	256	1	0	0	0	0	0	0	0	1	13435	1136	40	1		1	RNF126	19	648886	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	314423	648886	58480097	138	126904											
SEMA6B	10501	broad.mit.edu	37	chr19	4543641	4543641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggggcgcagtcctgtccGcccccccataggggaggagg	18	14	0	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:4543641G>A	uc010duc.1	-	16	2677	c.2639C>T	c.(2638-2640)GCG>GTG	p.A880V	SEMA6B_uc010dud.2_Missense_Mutation_p.A880V|SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	880	Cytoplasmic (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		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)		AGTCCTGTCCGCCCCCCCATA	0.751													A	4543641	G	A	4543641	3	1	256	1	0	0	0	0	1	0	0	0	14040	1087	38	1	31	1	SEMA6B	19	4543641	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	3894755	4543641	54585342	139	126905											
ACSBG2	81616	broad.mit.edu	37	chr19	6187752	6187752	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctacaaggccatccAgcaaggcatcaatgctgtga	10	12	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:6187752A>C	uc002mef.1	+	13	2050	c.1823A>C	c.(1822-1824)CAG>CCG	p.Q608P	ACSBG2_uc002mee.1_Missense_Mutation_p.Q421P|ACSBG2_uc002meg.1_Missense_Mutation_p.Q608P|ACSBG2_uc002meh.1_Missense_Mutation_p.Q608P|ACSBG2_uc002mei.1_Missense_Mutation_p.Q558P|ACSBG2_uc010xiz.1_Missense_Mutation_p.Q580P	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	608					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			ovary(1)	1						AAGGCCATCCAGCAAGGCATC	0.522													C	6187752	A	C	6187752	3	2	256	1	0	0	0	0	1	0	0	0	174	188	7	5	1869	5	ACSBG2	19	6187752	Missense_Mutation	SNP	A	TCGA-HU-8249-01A-11D-2340-08	1644111	6187752	52941231	140	126906											
DENND1C	79958	broad.mit.edu	37	chr19	6471429	6471429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcacctgaggaggcccCgcagccagtgatctcctgct	13	15	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:6471429C>T	uc002mfe.2	-	16	1329	c.1237G>A	c.(1237-1239)GGG>AGG	p.G413R	DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.G369R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	413						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						GAGGAGGCCCCGCAGCCAGTG	0.637													T	6471429	C	T	6471429	3	4	256	1	0	0	0	0	1	0	0	0	4428	652	23	1	1200	1	DENND1C	19	6471429	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	283677	6471429	52657554	141	126907											
DOCK6	57572	broad.mit.edu	37	chr19	11325064	11325064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccaagacgctctcccGggcttctgaaagcatcaccg	9	17	3	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:11325064G>A	uc002mqs.3	-	34	4266	c.4225C>T	c.(4225-4227)CGG>TGG	p.R1409W	DOCK6_uc010xlq.1_Missense_Mutation_p.R748W	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1409					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ACGCTCTCCCGGGCTTCTGAA	0.597													A	11325064	G	A	11325064	3	1	256	1	0	0	0	0	1	0	0	0	4691	1115	39	1	1978	1	DOCK6	19	11325064	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	4853635	11325064	47803919	142	126908											
RAD23A	5886	broad.mit.edu	37	chr19	13059068	13059068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcctctacatccttcccGcctgcccccacctcaggcat	6	20	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:13059068G>A	uc002mvw.1	+	3	421	c.312G>A	c.(310-312)CCG>CCA	p.P104P	RAD23A_uc002mvx.1_Silent_p.P104P|RAD23A_uc002mvz.1_Silent_p.P104P|RAD23A_uc002mwa.1_Silent_p.P104P|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	104					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)	1						CATCCTTCCCGCCTGCCCCCA	0.637								NER					A	13059068	G	A	13059068	2	1	256	1	0	0	0	0	0	0	0	1	12982	1074	38	1		1	RAD23A	19	13059068	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	1734004	13059068	46069915	143	126909											
DNAJB1	3337	broad.mit.edu	37	chr19	14626879	14626879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggagggggaggccttctCcaggaacttttcgccgcatg	16	10	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:14626879C>T	uc002myz.1	-	3	936	c.896G>A	c.(895-897)GGA>GAA	p.G299E	DNAJB1_uc010xnr.1_Missense_Mutation_p.G199E	NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	299					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(1328;0.0476)		GAGGCCTTCTCCAGGAACTTT	0.542													T	14626879	C	T	14626879	3	4	256	1	0	0	0	0	1	0	0	0	4615	855	30	4	130	4	DNAJB1	19	14626879	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	1567811	14626879	44502104	144	126910											
CPAMD8	27151	broad.mit.edu	37	chr19	17085975	17085975	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagaggagcgccggcgtcGttgtgccgtcagcccagccc	15	15	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:17085975G>A	uc002nfb.2	-	17	2175	c.2143C>T	c.(2143-2145)CGA>TGA	p.R715*		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	668	Poly-Arg.					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CGCCGGCGTCGTTGTGCCGTC	0.577													A	17085975	G	A	17085975	4	1	256	1	0	0	0	0	0	1	0	0	3795	1153	40	1	3759	1	CPAMD8	19	17085975	Nonsense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	2459096	17085975	42043008	145	126911											
ZNF100	163227	broad.mit.edu	37	chr19	21927839	21927839	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccactcctccagagagaattCtatggccacatccctaaacg	6	15	1	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:21927839C>G	uc002nqi.2	-	3	326	c.127G>C	c.(127-129)GAA>CAA	p.E43Q	ZNF100_uc002nqh.2_5'UTR	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGAGAATTCTATGGCCACA	0.448													G	21927839	C	G	21927839	3	3	256	1	0	0	0	0	1	0	0	0	17710	922	32	5	1513	5	ZNF100	19	21927839	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	4841864	21927839	37201144	146	126912											
RYR1	6261	broad.mit.edu	37	chr19	39005693	39005693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtccaggtctcttgctaccGaacgctgtgcagtatctact	9	13	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:39005693G>A	uc002oit.2	+	64	9630	c.9500G>A	c.(9499-9501)CGA>CAA	p.R3167Q	RYR1_uc002oiu.2_Missense_Mutation_p.R3167Q|RYR1_uc002oiv.1_Missense_Mutation_p.R87Q|RYR1_uc010xuf.1_Missense_Mutation_p.R87Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3167					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTTGCTACCGAACGCTGTGC	0.607											OREG0025449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39005693	G	A	39005693	3	1	256	1	0	0	0	0	1	0	0	0	13768	1058	37	1	9754	1	RYR1	19	39005693	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	17077854	39005693	20123290	147	126913											
CEACAM5	1048	broad.mit.edu	37	chr19	42224897	42224897	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtcttacctttcgggagcGaacctcaacctctcctgcca	7	16	3	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:42224897G>A	uc002ork.2	+	8	1948	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	CEACAM5_uc002orj.1_Silent_p.A608A|CEACAM5_uc002orl.2_Silent_p.A609A	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	609	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTTCGGGAGCGAACCTCAACC	0.532													A	42224897	G	A	42224897	2	1	256	1	0	0	0	0	0	0	0	1	3195	1045	37	1		1	CEACAM5	19	42224897	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	3219204	42224897	16904086	148	126914											
ZNF227	7770	broad.mit.edu	37	chr19	44740730	44740730	+	Frame_Shift_Del	DEL	A	A	-													ccacacgggagagaaaccccAtatatgtgaggagtgtggta							TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:44740730delA	uc002oyu.2	+	6	2352	c.2147delA	c.(2146-2148)CATfs	p.H716fs	ZNF227_uc010xwu.1_Frame_Shift_Del_p.H665fs|ZNF227_uc002oyv.2_Frame_Shift_Del_p.H716fs|ZNF227_uc010xwv.1_Frame_Shift_Del_p.H665fs|ZNF227_uc010xww.1_Frame_Shift_Del_p.H637fs|ZNF227_uc002oyw.2_Frame_Shift_Del_p.H688fs|ZNF227_uc010ejh.2_Frame_Shift_Del_p.H709fs|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	716	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GAGAAACCCCATATATGTGAG	0.473													-	44740730	A	-	44740730	7	5	256	1	0	1	0	1	0	0	0	0	17778	217	8	0	2161	0	ZNF227	19	44740730	Frame_Shift_Del	DEL	A	TCGA-HU-8249-01A-11D-2340-08	2515833	44740730	14388253	149	126915											
FOSB	2354	broad.mit.edu	37	chr19	45974176	45974176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcctgcccgcccagcccGagcccggcctaggagacccc	13	20	0	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:45974176G>A	uc002pbx.3	+	2	1008	c.416G>A	c.(415-417)CGA>CAA	p.R139Q	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.R139Q|FOSB_uc010eke.2_Missense_Mutation_p.R100Q|FOSB_uc002pby.3_Missense_Mutation_p.R139Q|FOSB_uc010eka.1_Missense_Mutation_p.R100Q|FOSB_uc010ekb.1_Missense_Mutation_p.R139Q|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Missense_Mutation_p.R100Q|FOSB_uc010ekd.1_Missense_Mutation_p.R139Q|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_Missense_Mutation_p.R90Q	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	139					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCCAGCCCGAGCCCGGCCT	0.627													A	45974176	G	A	45974176	3	1	256	1	0	0	0	0	1	0	0	0	5986	1058	37	1	422	1	FOSB	19	45974176	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	1233446	45974176	13154807	150	126916											
DHX34	9704	broad.mit.edu	37	chr19	47884092	47884092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccttacagcctccggcGgctcacagggctagaagtcc	11	14	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:47884092G>A	uc010xyn.1	+	15	3343	c.3002G>A	c.(3001-3003)CGG>CAG	p.R1001Q	DHX34_uc010xyo.1_Missense_Mutation_p.R130Q	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1001						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCCTCCGGCGGCTCACAGGG	0.373													A	47884092	G	A	47884092	3	1	256	1	0	0	0	0	1	0	0	0	4507	1116	39	1	3056	1	DHX34	19	47884092	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	1909916	47884092	11244891	151	126917											
ASXL1	171023	broad.mit.edu	37	chr20	31024757	31024757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccttctggaaattaccCcgagagccagggaaggggct	13	11	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:31024757C>T	uc002wxs.2	+	12	4668	c.4242C>T	c.(4240-4242)CCC>CCT	p.P1414P	ASXL1_uc010geb.2_Silent_p.P1305P	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1414					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GGAAATTACCCCGAGAGCCAG	0.542			F|N|Mis		MDS|CMML								T	31024757	C	T	31024757	2	4	256	1	0	0	0	0	0	0	0	1	1066	610	22	4		4	ASXL1	20	31024757	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08		31024757	32000763	152	126918											
EYA2	2139	broad.mit.edu	37	chr20	45771717	45771717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccacgacgtccgtgcGcattggccttatgatggaag	13	11	0	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:45771717G>A	uc002xsm.2	+	10	1282	c.908G>A	c.(907-909)CGC>CAC	p.R303H	EYA2_uc010ghp.2_Missense_Mutation_p.R303H|EYA2_uc002xsn.2_Missense_Mutation_p.R308H|EYA2_uc002xso.2_Missense_Mutation_p.R303H|EYA2_uc002xsp.2_Missense_Mutation_p.R303H|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	303					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			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				ACGTCCGTGCGCATTGGCCTT	0.483													A	45771717	G	A	45771717	3	1	256	1	0	0	0	0	1	0	0	0	5329	1087	38	1	942	1	EYA2	20	45771717	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	14746960	45771717	17253803	153	126919											
ZFP64	55734	broad.mit.edu	37	chr20	50701434	50701434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccaggctgctgggccGcttcgtgtcgaagctgcaga	15	12	0	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:50701434G>A	uc002xwk.2	-	9	1949	c.1600C>T	c.(1600-1602)CGG>TGG	p.R534W	ZFP64_uc002xwj.2_Missense_Mutation_p.R315W	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGCTGGGCCGCTTCGTGTCG	0.652													A	50701434	G	A	50701434	3	1	256	1	0	0	0	0	1	0	0	0	17649	1086	38	1	341	1	ZFP64	20	50701434	Missense_Mutation	SNP	G	TCGA-HU-8249-01A-11D-2340-08	4929717	50701434	12324086	154	126920											
PRPF6	24148	broad.mit.edu	37	chr20	62630983	62630983	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagaaggcgcgactgctcctCaagtctgttcgggagacgaa	13	10	2	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:62630983C>G	uc002yho.2	+	8	1062	c.894C>G	c.(892-894)CTC>CTG	p.L298L	PRPF6_uc002yhp.2_Silent_p.L298L	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	298					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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GACTGCTCCTCAAGTCTGTTC	0.582													G	62630983	C	G	62630983	2	3	256	1	0	0	0	0	0	0	0	1	12574	813	29	5		5	PRPF6	20	62630983	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08	11929549	62630983	394537	155	126921											
GRIK1	2897	broad.mit.edu	37	chr21	31045320	31045320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgcttaaggatttcagCggctgtttcatgtgaacaat	9	8	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr21:31045320C>T	uc002yno.1	-	4	1173	c.709G>A	c.(709-711)GCT>ACT	p.A237T	GRIK1_uc002ynn.2_Missense_Mutation_p.A237T|GRIK1_uc011acs.1_Missense_Mutation_p.A237T|GRIK1_uc011act.1_Missense_Mutation_p.A181T|GRIK1_uc010glq.1_Missense_Mutation_p.A95T|GRIK1_uc002ynr.2_Missense_Mutation_p.A237T	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	237	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGATTTCAGCGGCTGTTTCA	0.413													T	31045320	C	T	31045320	3	4	256	1	0	0	0	0	1	0	0	0	6773	768	27	1	2263	1	GRIK1	21	31045320	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08		31045320	17084575	156	126922											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127679	32127679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagccacaggagttgccGtagtagttgcaacacatgtt	10	10	0	0	rs147444076		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr21:32127679G>A	uc011adi.1	-	1	18	c.18C>T	c.(16-18)TAC>TAT	p.Y6Y		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	6						intermediate filament				breast(1)	1						agGAGTTGCCGTAGTAGTTGC	0.239													A	32127679	G	A	32127679	2	1	256	1	0	0	0	0	0	0	0	1	8538	1140	40	1		1	KRTAP21-1	21	32127679	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	1082359	32127679	16002216	157	126923											
PLA2G6	8398	broad.mit.edu	37	chr22	38516783	38516783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttgggtttcctgacgtcCgtcatcttggtgtgctcccc	10	13	2	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr22:38516783C>T	uc003auy.1	-	12	1861	c.1725G>A	c.(1723-1725)ACG>ACA	p.T575T	PLA2G6_uc003auz.1_Silent_p.T521T|PLA2G6_uc003ava.1_Silent_p.T575T|PLA2G6_uc003avb.2_Silent_p.T521T|PLA2G6_uc010gxk.1_RNA	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	575					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	TCCTGACGTCCGTCATCTTGG	0.647													T	38516783	C	T	38516783	2	4	256	1	0	0	0	0	0	0	0	1	12008	639	23	1		1	PLA2G6	22	38516783	Silent	SNP	C	TCGA-HU-8249-01A-11D-2340-08		38516783	12787783	158	126924											
EFCAB6	64800	broad.mit.edu	37	chr22	43996139	43996139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcccttttccctcggtgtCgtatcttaaaacaaaaacaa	6	11	1	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr22:43996139C>T	uc003bdy.1	-	23	2901	c.2686G>A	c.(2686-2688)GAC>AAC	p.D896N	EFCAB6_uc003bdz.1_Missense_Mutation_p.D744N|EFCAB6_uc010gzi.1_Missense_Mutation_p.D744N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D122N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	896	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CCCTCGGTGTCGTATCTTAAA	0.438													T	43996139	C	T	43996139	3	4	256	1	0	0	0	0	1	0	0	0	4939	884	31	1	1859	1	EFCAB6	22	43996139	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	5479356	43996139	7308427	159	126925											
PTCHD1	139411	broad.mit.edu	37	chrX	23411150	23411150	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaagccttttgtagtTctcttttaccttatttatat	4	7	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:23411150T>A	uc004dal.3	+	3	1523	c.1515T>A	c.(1513-1515)GTT>GTA	p.V505V		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	505	Helical; (Potential).				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CTTTTGTAGTTCTCTTTTACC	0.428													A	23411150	T	A	23411150	2	1	256	1	0	0	0	0	0	0	0	1	12732	1770	62	5		5	PTCHD1	23	23411150	Silent	SNP	T	TCGA-HU-8249-01A-11D-2340-08		23411150	131859410	160	126926											
HDAC6	10013	broad.mit.edu	37	chrX	48678618	48678618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttatgcccacctcacccacCtgctgatgggccttgccagt	9	16	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:48678618C>A	uc011mmi.1	+	23	2388	c.2293C>A	c.(2293-2295)CTG>ATG	p.L765M	HDAC6_uc004dks.1_Missense_Mutation_p.L765M|HDAC6_uc010nig.1_Missense_Mutation_p.L613M|HDAC6_uc004dkt.1_Missense_Mutation_p.L765M|HDAC6_uc011mmk.1_Missense_Mutation_p.L746M|HDAC6_uc004dkv.1_Missense_Mutation_p.L413M|HDAC6_uc004dkw.1_Missense_Mutation_p.L413M|HDAC6_uc004dkx.1_Missense_Mutation_p.L128M	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	765	Histone deacetylase 2.				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			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	CCTCACCCACCTGCTGATGGG	0.587													A	48678618	C	A	48678618	3	1	256	1	0	0	0	0	1	0	0	0	7011	680	24	5	2379	5	HDAC6	23	48678618	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	25267468	48678618	106591942	161	126927											
KDM5C	8242	broad.mit.edu	37	chrX	53241008	53241008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcagctttaaaggagtcGgccatctcgccaaagctctg	10	11	3	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:53241008G>A	uc004drz.2	-	9	1736	c.1203C>T	c.(1201-1203)GCC>GCT	p.A401A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A334A|KDM5C_uc004dsa.2_Silent_p.A400A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	401					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			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TAAAGGAGTCGGCCATCTCGC	0.527			N|F|S		clear cell renal carcinoma								A	53241008	G	A	53241008	2	1	256	1	0	0	0	0	0	0	0	1	8135	1103	39	1		1	KDM5C	23	53241008	Silent	SNP	G	TCGA-HU-8249-01A-11D-2340-08	4562390	53241008	102029552	162	126928											
AR	367	broad.mit.edu	37	chrX	66863123	66863123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgccagggaccatgttTtgcccattgactattacttt	8	10	0	2			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:66863123T>G	uc004dwu.1	+	2	2757	c.1642T>G	c.(1642-1644)TTG>GTG	p.L548V	AR_uc011mpd.1_Missense_Mutation_p.L548V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L548V|AR_uc004dwv.1_Missense_Mutation_p.L16V	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	547	Modulating.		L -> F (in PAIS).		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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	GGACCATGTTTTGCCCATTGA	0.473									Androgen_Insensitivity_Syndrome				G	66863123	T	G	66863123	3	3	256	1	0	0	0	0	1	0	0	0	836	1838	64	5	1672	5	AR	23	66863123	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	13622115	66863123	88407437	163	126929											
COL4A6	1288	broad.mit.edu	37	chrX	107413932	107413932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttctcctctcatgccggCaactcctggaaatcctaaat	7	13	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:107413932C>A	uc004enw.3	-	35	3506	c.3403G>T	c.(3403-3405)GCC>TCC	p.A1135S	COL4A6_uc004env.3_Missense_Mutation_p.A1134S|COL4A6_uc011msn.1_Missense_Mutation_p.A1134S|COL4A6_uc010npk.2_Missense_Mutation_p.A1134S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1135	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CTCATGCCGGCAACTCCTGGA	0.493									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107413932	C	A	107413932	3	1	256	1	0	0	0	0	1	0	0	0	3695	710	25	5	1716	5	COL4A6	23	107413932	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	40550809	107413932	47856628	164	126930											
IGSF1	3547	broad.mit.edu	37	chrX	130410118	130410118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccctcctgcaagagggCgaacctcatgccctggaaag	12	14	1	1			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:130410118C>T	uc004ewd.2	-	15	2951	c.2713G>A	c.(2713-2715)GCC>ACC	p.A905T	IGSF1_uc004ewe.3_Missense_Mutation_p.A899T|IGSF1_uc004ewf.2_Missense_Mutation_p.A885T	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	905	Extracellular (Potential).|Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGCAAGAGGGCGAACCTCATG	0.577													T	130410118	C	T	130410118	3	4	256	1	0	0	0	0	1	0	0	0	7596	768	27	1	1321	1	IGSF1	23	130410118	Missense_Mutation	SNP	C	TCGA-HU-8249-01A-11D-2340-08	22996186	130410118	24860442	165	126931											
SLITRK2	84631	broad.mit.edu	37	chrX	144904389	144904389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacaattacatcagtgccaTcgaggctggggcattcagca	10	11	2	0			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:144904389T>C	uc004fcd.2	+	5	1436	c.446T>C	c.(445-447)ATC>ACC	p.I149T	SLITRK2_uc010nsp.2_Missense_Mutation_p.I149T|SLITRK2_uc010nso.2_Missense_Mutation_p.I149T|SLITRK2_uc011mwq.1_Missense_Mutation_p.I149T|SLITRK2_uc011mwr.1_Missense_Mutation_p.I149T|SLITRK2_uc011mws.1_Missense_Mutation_p.I149T|SLITRK2_uc004fcg.2_Missense_Mutation_p.I149T|SLITRK2_uc011mwt.1_Missense_Mutation_p.I149T	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	149	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGTGCCATCGAGGCTGGG	0.498													C	144904389	T	C	144904389	3	2	256	1	0	0	0	0	1	0	0	0	14743	1435	50	3	448	3	SLITRK2	23	144904389	Missense_Mutation	SNP	T	TCGA-HU-8249-01A-11D-2340-08	14494271	144904389	10366171	166	126932											
SAMD11	148398	broad.mit.edu	37	chr1	879297	879297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctctgcaggtggccaggCgcctgggccgagttttctac	13	13	3	0	rs140566193		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:879297C>T	uc001abw.1	+	14	1890	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	SAMD11_uc001abx.1_Missense_Mutation_p.R467C	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	604	SAM.					nucleus					0	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;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGTGGCCAGGCGCCTGGGCCG	0.672													T	879297	C	T	879297	3	4	257	1	0	0	0	0	1	0	0	0	13816	768	27	1	1860	1	SAMD11	1	879297	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08		879297	248371324	1	126933											
AGRN	375790	broad.mit.edu	37	chr1	981392	981392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgctgtgagttcggtgCgcggtgcgtggaggagtctg	20	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:981392C>T	uc001ack.1	+	16	2779	c.2729C>T	c.(2728-2730)GCG>GTG	p.A910V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	910					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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;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)		GAGTTCGGTGCGCGGTGCGTG	0.662													T	981392	C	T	981392	3	4	257	1	0	0	0	0	1	0	0	0	397	768	27	1	2791	1	AGRN	1	981392	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	102095	981392	248269229	2	126934											
PLCH2	9651	broad.mit.edu	37	chr1	2428286	2428288	+	In_Frame_Del	DEL	GTC	GTC	-													gcggcgtccagctggcaggtGtcgtccttcagcgagaccaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:2428285_2428287TGTC>T	uc001aji.1	+	14	2223_2225	c.1949_1951TGTC>T	c.(1948-1953)gtgtcg>gTcg	p.S652del	PLCH2_uc010nyz.2_In_Frame_Del_p.S441del|PLCH2_uc009vle.1_In_Frame_Del_p.S441del|PLCH2_uc001ajj.1_In_Frame_Del_p.S441del|PLCH2_uc001ajk.1_In_Frame_Del_p.S441del|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	653	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)		AGCTGGCAGGTGTCGTCCTTCAG	0.665													-	2428288	GTC	-	2428286	7	5	257	1	0	1	0	1	0	0	0	0	12038	1364	48	0	2011	0	PLCH2	1	2428286	In_Frame_Del	DEL	GTC	TCGA-HU-8602-01A-11D-2394-08	1446894	2428286	246822335	3	126935											
PANK4	55229	broad.mit.edu	37	chr1	2445456	2445456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactttggagtagggatcCgggaagttgaactcgttcag	13	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:2445456C>T	uc001ajm.1	-	12	1569	c.1560G>A	c.(1558-1560)CCG>CCA	p.P520P	PANK4_uc010nza.1_Silent_p.P481P	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	520					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	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;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGTAGGGATCCGGGAAGTTGA	0.652													T	2445456	C	T	2445456	2	4	257	1	0	0	0	0	0	0	0	1	11419	639	23	1		1	PANK4	1	2445456	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	17170	2445456	246805165	4	126936											
PRDM16	63976	broad.mit.edu	37	chr1	3328750	3328750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccccgaacagcgtggcCgaggtgcctgtcttctattc	14	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:3328750C>T	uc001akf.2	+	9	2069	c.1989C>T	c.(1987-1989)GCC>GCT	p.A663A	PRDM16_uc001akc.2_Silent_p.A663A|PRDM16_uc001akd.2_Silent_p.A663A|PRDM16_uc001ake.2_Silent_p.A663A|PRDM16_uc009vlh.2_Silent_p.A364A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	663					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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		ACAGCGTGGCCGAGGTGCCTG	0.682			T	EVI1	MDS|AML								T	3328750	C	T	3328750	2	4	257	1	0	0	0	0	0	0	0	1	12457	639	23	1		1	PRDM16	1	3328750	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	883294	3328750	245921871	5	126937											
CHD5	26038	broad.mit.edu	37	chr1	6188120	6188120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttaccacgccgtcctcctCgcgcaccacgtactgcgcca	7	21	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:6188120C>T	uc001amb.1	-	25	3989	c.3889G>A	c.(3889-3891)GAG>AAG	p.E1297K	CHD5_uc001alz.1_Missense_Mutation_p.E154K|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		CCGTCCTCCTCGCGCACCACG	0.657													T	6188120	C	T	6188120	3	4	257	1	0	0	0	0	1	0	0	0	3328	893	31	1	2043	1	CHD5	1	6188120	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2859370	6188120	243062501	6	126938											
PLEKHG5	57449	broad.mit.edu	37	chr1	6534150	6534150	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccggtcccagctggccgcaGaatcggcaaactcagggact	12	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:6534150G>A	uc001ano.1	-	8	783	c.682C>T	c.(682-684)CTG>TTG	p.L228L	PLEKHG5_uc001ann.1_Silent_p.L209L|PLEKHG5_uc001anq.1_Silent_p.L249L|PLEKHG5_uc001anp.1_Silent_p.L249L|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Silent_p.L12L|PLEKHG5_uc010nzr.1_Silent_p.L241L|PLEKHG5_uc001ank.1_Silent_p.L172L|PLEKHG5_uc009vmb.1_Silent_p.L172L|PLEKHG5_uc001anl.1_Silent_p.L172L|PLEKHG5_uc001anm.1_Silent_p.L172L	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	228					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)		GCTGGCCGCAGAATCGGCAAA	0.672													A	6534150	G	A	6534150	2	1	257	1	0	0	0	0	0	0	0	1	12073	933	33	4		4	PLEKHG5	1	6534150	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	346030	6534150	242716471	7	126939											
RERE	473	broad.mit.edu	37	chr1	8422883	8422883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggctggctgcttcttccGaccactgcgtagtgtcgaca	12	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:8422883G>A	uc001ape.2	-	17	2572	c.1762C>T	c.(1762-1764)CGG>TGG	p.R588W	RERE_uc001apf.2_Missense_Mutation_p.R588W|RERE_uc010nzx.1_Missense_Mutation_p.R320W|RERE_uc001apd.2_Missense_Mutation_p.R34W	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	588					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			ovary(1)|central_nervous_system(1)	2	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)		TGCTTCTTCCGACCACTGCGT	0.622													A	8422883	G	A	8422883	3	1	257	1	0	0	0	0	1	0	0	0	13231	1057	37	1	2970	1	RERE	1	8422883	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1888733	8422883	240827738	8	126940											
RERE	473	broad.mit.edu	37	chr1	8482843	8482843	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagttcttcccgtactGcctgagtcccttaacgaagc	9	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:8482843G>A	uc001ape.2	-	13	2038	c.1228C>T	c.(1228-1230)CAG>TAG	p.Q410*	RERE_uc001apf.2_Nonsense_Mutation_p.Q410*|RERE_uc010nzx.1_Nonsense_Mutation_p.Q142*|RERE_uc001apd.2_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	410	SANT.				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			ovary(1)|central_nervous_system(1)	2	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)		TTCCCGTACTGCCTGAGTCCC	0.368													A	8482843	G	A	8482843	4	1	257	1	0	0	0	0	0	1	0	0	13231	1328	46	2	3520	2	RERE	1	8482843	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	59960	8482843	240767778	9	126941											
CLSTN1	22883	broad.mit.edu	37	chr1	9804642	9804642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtcggtgggcaggcccaTggtccagttgagggatccac	15	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:9804642T>C	uc001aqh.2	-	8	1804	c.1045A>G	c.(1045-1047)ATG>GTG	p.M349V	CLSTN1_uc001aqi.2_Missense_Mutation_p.M339V|CLSTN1_uc010oag.1_Missense_Mutation_p.M349V	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	349	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGCAGGCCCATGGTCCAGTTG	0.647													C	9804642	T	C	9804642	3	2	257	1	0	0	0	0	1	0	0	0	3561	1464	51	3	1948	3	CLSTN1	1	9804642	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1321799	9804642	239445979	10	126942											
CASZ1	54897	broad.mit.edu	37	chr1	10725422	10725422	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcgctgcggggggcccGggctgccccagactcagggc	16	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:10725422G>T	uc001aro.2	-	5	543	c.223C>A	c.(223-225)CGG>AGG	p.R75R	CASZ1_uc001arp.1_Silent_p.R75R|CASZ1_uc009vmx.2_Silent_p.R99R	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		CGGGGGGCCCGGGCTGCCCCA	0.701													T	10725422	G	T	10725422	2	4	257	1	0	0	0	0	0	0	0	1	2685	1115	39	5		5	CASZ1	1	10725422	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	920780	10725422	238525199	11	126943											
PTCHD2	57540	broad.mit.edu	37	chr1	11589919	11589919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggaagccggcggtgcGgccactagtggataccgggg	19	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:11589919G>T	uc001ash.3	+	15	3143	c.3005G>T	c.(3004-3006)CGG>CTG	p.R1002L		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1002	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CCGGCGGTGCGGCCACTAGTG	0.622													T	11589919	G	T	11589919	3	4	257	1	0	0	0	0	1	0	0	0	12733	1116	39	5	3059	5	PTCHD2	1	11589919	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	864497	11589919	237660702	12	126944											
CLCN6	1185	broad.mit.edu	37	chr1	11893605	11893605	+	Frame_Shift_Del	DEL	T	T	-													tgaattcaagtatcaagacaTttttttgtcccaatgatacc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:11893604_11893604AT>A	uc001ate.4	+	13	1394	c.1281_1281AT>A	c.(1279-1281)acafs	p.T427fs	CLCN6_uc010oat.2_Frame_Shift_Del_p.T143fs|CLCN6_uc010oau.2_Frame_Shift_Del_p.T405fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	427					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|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)		GTATCAAGACATTTTTTTGTC	0.458													-	11893605	T	-	11893605	7	5	257	1	0	1	0	1	0	0	0	0	3467	1493	52	0	1346	0	CLCN6	1	11893605	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	303686	11893605	237357016	13	126945											
TNFRSF8	943	broad.mit.edu	37	chr1	12144597	12144597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaggaggtgctgttaccGctgccccatgggtgagtggg	17	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:12144597G>A	uc001atq.2	+	2	362	c.140G>A	c.(139-141)CGC>CAC	p.R47H	TNFRSF8_uc010obc.1_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	47	TNFR-Cys 1.|Extracellular (Potential).				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				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	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)		TGCTGTTACCGCTGCCCCATG	0.567													A	12144597	G	A	12144597	3	1	257	1	0	0	0	0	1	0	0	0	16296	1087	38	1	146	1	TNFRSF8	1	12144597	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	250992	12144597	237106024	14	126946											
PDPN	10630	broad.mit.edu	37	chr1	13933720	13933720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacaggtttggaaggcggCgttgccatgccaggtgccga	15	10	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:13933720C>T	uc001avd.2	+	2	397	c.348C>T	c.(346-348)GGC>GGT	p.G116G	PDPN_uc001avc.2_Silent_p.G116G|PDPN_uc009vob.2_5'UTR|PDPN_uc009voc.2_5'UTR|PDPN_uc001ave.2_5'UTR|PDPN_uc001avf.2_5'UTR	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	40	Extracellular (Potential).				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TGGAAGGCGGCGTTGCCATGC	0.522													T	13933720	C	T	13933720	2	4	257	1	0	0	0	0	0	0	0	1	11688	755	27	1		1	PDPN	1	13933720	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1789123	13933720	235316901	15	126947											
AGMAT	79814	broad.mit.edu	37	chr1	15909876	15909876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgattcttcccggatgCggcgaggtccgaatctgcag	12	12	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:15909876C>T	uc001awv.1	-	2	430	c.287G>A	c.(286-288)CGC>CAC	p.R96H	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	96					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCGGATGCGGCGAGGTCC	0.483													T	15909876	C	T	15909876	3	4	257	1	0	0	0	0	1	0	0	0	385	768	27	1	795	1	AGMAT	1	15909876	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1976156	15909876	233340745	16	126948											
PLEKHM2	23207	broad.mit.edu	37	chr1	16053855	16053855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacctggtgctcccgtGctgagcccccagaccagtcc	10	19	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:16053855G>A	uc010obo.1	+	9	1515	c.1288G>A	c.(1288-1290)GCT>ACT	p.A430T		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	430					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		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)		GTGCTCCCGTGCTGAGCCCCC	0.647													A	16053855	G	A	16053855	3	1	257	1	0	0	0	0	1	0	0	0	12081	1319	46	2	1322	2	PLEKHM2	1	16053855	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	143979	16053855	233196766	17	126949											
CLCNKA	1187	broad.mit.edu	37	chr1	16378297	16378297	+	Frame_Shift_Del	DEL	G	G	-													tcaccaatcccatcatgccaGgggggtatgctctggcaggt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:16378296_16378296AG>A	uc001axx.4	+	13	1525	c.1389_1389AG>A	c.(1387-1389)ccafs	p.P463fs	CLCNKA_uc021ogl.1_Frame_Shift_Del_p.P110fs|CLCNKA_uc021ogm.1_Frame_Shift_Del_p.P294fs|CLCNKA_uc001axy.4_Frame_Shift_Del_p.P294fs	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	463					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)	CCATCATGCCAGGGGGGTATG	0.622													-	16378297	G	-	16378297	7	5	257	1	0	1	0	1	0	0	0	0	3469	1000	35	0		0	CLCNKA	1	16378297	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	324442	16378297	232872324	18	126950											
ARHGEF19	128272	broad.mit.edu	37	chr1	16531855	16531855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctcacctccttgagCgcattgaaggccttggtggc	12	14	1	2	rs150897805		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:16531855C>T	uc001ayc.1	-	10	1784	c.1647G>A	c.(1645-1647)GCG>GCA	p.A549A	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Silent_p.A26A	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	549	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		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)		CCTCCTTGAGCGCATTGAAGG	0.612													T	16531855	C	T	16531855	2	4	257	1	0	0	0	0	0	0	0	1	902	755	27	1		1	ARHGEF19	1	16531855	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	153558	16531855	232718766	19	126951											
PADI4	23569	broad.mit.edu	37	chr1	17682614	17682614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagctttgtgccagcacccGacaggaaggtacagtcttgg	13	10	1	1	rs142426054	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:17682614G>A	uc001baj.2	+	12	1475	c.1447G>A	c.(1447-1449)GAC>AAC	p.D483N		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	483					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCCAGCACCCGACAGGAAGGT	0.592													A	17682614	G	A	17682614	3	1	257	1	0	0	0	0	1	0	0	0	11380	1058	37	1	1493	1	PADI4	1	17682614	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1150759	17682614	231568007	20	126952											
UBR4	23352	broad.mit.edu	37	chr1	19500110	19500110	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtaatattgaagggcacaGgcctcctggagaaaggaaaa	12	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:19500110G>T	uc001bbi.2	-	23	2992	c.2988C>A	c.(2986-2988)GCC>GCA	p.A996A	UBR4_uc001bbm.1_Silent_p.A207A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	996	Helical; (Potential).				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		GAAGGGCACAGGCCTCCTGGA	0.433													T	19500110	G	T	19500110	2	4	257	1	0	0	0	0	0	0	0	1	16901	987	35	5		5	UBR4	1	19500110	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1817496	19500110	229750511	21	126953											
PQLC2	54896	broad.mit.edu	37	chr1	19653763	19653763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctcctactctctgttcGcgctggtgatgctggggaac	13	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:19653763G>A	uc001bby.2	+	8	1013	c.661G>A	c.(661-663)GCG>ACG	p.A221T	PQLC2_uc001bbz.2_Missense_Mutation_p.A156T|PQLC2_uc001bca.2_Missense_Mutation_p.A221T|PQLC2_uc001bcb.2_Missense_Mutation_p.A110T|PQLC2_uc001bcc.2_Missense_Mutation_p.A110T	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	221	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		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)		CTCTCTGTTCGCGCTGGTGAT	0.557													A	19653763	G	A	19653763	3	1	257	1	0	0	0	0	1	0	0	0	12419	1087	38	1	683	1	PQLC2	1	19653763	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	153653	19653763	229596858	22	126954											
PLA2G2F	64600	broad.mit.edu	37	chr1	20471085	20471085	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccctaggtgctgccacgcCcacgactgctgctaccagga	10	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:20471085C>A	uc009vpp.1	+	4	425	c.327C>A	c.(325-327)GCC>GCA	p.A109A		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	66					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCTGCCACGCCCACGACTGCT	0.507													A	20471085	C	A	20471085	2	1	257	1	0	0	0	0	0	0	0	1	11999	610	22	5		5	PLA2G2F	1	20471085	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	817322	20471085	228779536	23	126955											
KIF17	57576	broad.mit.edu	37	chr1	21016831	21016831	+	Splice_Site	DEL	G	G	-													caggcgctcttcatactcctGggggggtgggagggaccaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:21016830_21016830TG>T	uc001bdr.4	-	7	1352	c.1234_splice	c.e7-1	p.E412_splice	KIF17_uc009vpx.3_Splice_Site|KIF17_uc001bds.4_Splice_Site_p.E412_splice	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	412					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)		TTCATACTCCTGGGGGGGTGG	0.527													-	21016831	G	-	21016831	8	5	257	1	0	1	0	1	0	0	1	0	8279	1363	47	0		0	KIF17	1	21016831	Splice_Site	DEL	G	TCGA-HU-8602-01A-11D-2394-08	545746	21016831	228233790	24	126956											
NBPF3	84224	broad.mit.edu	37	chr1	21771652	21771652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagaaacttccccattcGgtgcaccaagagcagcctca	8	13	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:21771652G>A	uc001ber.2	+	2	423	c.73G>A	c.(73-75)GGT>AGT	p.G25S	NBPF3_uc001bes.2_5'UTR|NBPF3_uc009vqb.2_Missense_Mutation_p.G25S|NBPF3_uc010odm.1_Missense_Mutation_p.G25S	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	25						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCCCATTCGGTGCACCAAG	0.587													A	21771652	G	A	21771652	3	1	257	1	0	0	0	0	1	0	0	0	10197	1116	39	1	75	1	NBPF3	1	21771652	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	754821	21771652	227478969	25	126957											
EPHA8	2046	broad.mit.edu	37	chr1	22924273	22924273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacacggagagacagaggCgggacttcctgagcgaggcg	17	10	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:22924273C>T	uc001bfx.1	+	11	2160	c.2035C>T	c.(2035-2037)CGG>TGG	p.R679W		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	679	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GAGACAGAGGCGGGACTTCCT	0.652													T	22924273	C	T	22924273	3	4	257	1	0	0	0	0	1	0	0	0	5173	759	27	1	2250	1	EPHA8	1	22924273	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1152621	22924273	226326348	26	126958											
TMEM57	55219	broad.mit.edu	37	chr1	25785186	25785186	+	Frame_Shift_Del	DEL	A	A	-													gactcatgcactgcttcctcAaaaaattacaaaaatgccag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:25785185_25785185CA>C	uc001bkk.3	+	5	1158	c.956_956CA>C	c.(955-957)tcafs	p.S319fs	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	319						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTTCCTCAAAAAATTAC	0.368													-	25785186	A	-	25785186	7	5	257	1	0	1	0	1	0	0	0	0	16181	117	5	0	979	0	TMEM57	1	25785186	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	2860913	25785186	223465435	27	126959											
EXTL1	2134	broad.mit.edu	37	chr1	26349804	26349804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacacagcccccagcccGgggtagccctgctagccctg	12	18	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:26349804G>A	uc001blf.2	+	1	1534	c.667G>A	c.(667-669)GGG>AGG	p.G223R		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	223	Lumenal (Potential).				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)	1		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)		CCCCCAGCCCGGGGTAGCCCT	0.687													A	26349804	G	A	26349804	3	1	257	1	0	0	0	0	1	0	0	0	5325	1116	39	1	669	1	EXTL1	1	26349804	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	564618	26349804	222900817	28	126960											
DHDDS	79947	broad.mit.edu	37	chr1	26795565	26795565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagtccaaggcttcctgcaGgccttggaactcaagcgagc	12	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:26795565G>T	uc001bml.2	+	9	1066	c.945G>T	c.(943-945)CAG>CAT	p.Q315H	DHDDS_uc001bmk.2_Missense_Mutation_p.Q316H|DHDDS_uc001bmm.2_Missense_Mutation_p.Q222H|DHDDS_uc001bmn.2_Missense_Mutation_p.Q276H|DHDDS_uc010ofd.1_Missense_Mutation_p.Q281H|uc001bmo.1_5'Flank	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	315							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		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)		GCTTCCTGCAGGCCTTGGAAC	0.642													T	26795565	G	T	26795565	3	4	257	1	0	0	0	0	1	0	0	0	4478	991	35	5	978	5	DHDDS	1	26795565	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	445761	26795565	222455056	29	126961											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898685	26898685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatactccatttgccaaCggtcccagtgacacaccaga	7	13	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:26898685C>T	uc001bmr.1	+	20	2011	c.1848C>T	c.(1846-1848)AAC>AAT	p.N616N	RPS6KA1_uc010ofe.1_Silent_p.N524N|RPS6KA1_uc010off.1_3'UTR|RPS6KA1_uc001bms.1_Silent_p.N625N|RPS6KA1_uc009vsl.1_Silent_p.N459N	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	616	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)		CATTTGCCAACGGTCCCAGTG	0.567													T	26898685	C	T	26898685	2	4	257	1	0	0	0	0	0	0	0	1	13650	535	19	1		1	RPS6KA1	1	26898685	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	103120	26898685	222351936	30	126962											
C1orf172	126695	broad.mit.edu	37	chr1	27278809	27278809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagacatagctctgttggCcgctcccacggtcccaagcg	10	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:27278809C>T	uc001bni.1	-	2	152	c.63G>A	c.(61-63)CGG>CGA	p.R21R		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	21	Pro-rich.									large_intestine(1)|ovary(1)	2		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)		GCTCTGTTGGCCGCTCCCACG	0.647													T	27278809	C	T	27278809	2	4	257	1	0	0	0	0	0	0	0	1	2013	726	26	2		2	C1orf172	1	27278809	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	380124	27278809	221971812	31	126963											
WDTC1	23038	broad.mit.edu	37	chr1	27624505	27624505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcctgccagcagtggAcccaagccattcagctttac	8	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:27624505A>G	uc009vst.2	+	12	1670	c.1135A>G	c.(1135-1137)ACC>GCC	p.T379A	WDTC1_uc001bno.2_Missense_Mutation_p.T378A|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.T57A	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	379	TPR 1.						protein binding			ovary(1)|central_nervous_system(1)	2		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)		CCAGCAGTGGACCCAAGCCAT	0.552													G	27624505	A	G	27624505	3	3	257	1	0	0	0	0	1	0	0	0	17339	275	10	3	1174	3	WDTC1	1	27624505	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	345696	27624505	221626116	32	126964											
FGR	2268	broad.mit.edu	37	chr1	27939440	27939440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctatgtctgatccccGggctggtactgtggttcagc	13	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:27939440G>A	uc001boj.2	-	11	1721	c.1575C>T	c.(1573-1575)CCC>CCT	p.P525P	FGR_uc001boi.2_Silent_p.P228P|FGR_uc001bok.2_Silent_p.P525P|FGR_uc001bol.2_Silent_p.P525P|FGR_uc001bom.2_Silent_p.P525P	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	525					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		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)		TCTGATCCCCGGGCTGGTACT	0.617													A	27939440	G	A	27939440	2	1	257	1	0	0	0	0	0	0	0	1	5874	1103	39	1		1	FGR	1	27939440	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	314935	27939440	221311181	33	126965											
RPA2	6118	broad.mit.edu	37	chr1	28240614	28240614	+	Frame_Shift_Del	DEL	C	C	-													aaggtgcgggcgatccaaagCcccccggggactgcgtgtag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:28240613_28240613GC>G	uc001bpe.1	-	1	360	c.78_78GC>C	c.(76-78)ggcfs	p.G26fs	RPA2_uc010ofp.1_5'UTR	NM_002946	NP_002937	P15927	RFA2_HUMAN	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.	26	Gly/Ser-rich.				DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|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)		GCGATCCAAAGCCCCCCGGGG	0.512								Direct reversal of damage;Nucleotide excision repair (NER)					-	28240614	C	-	28240614	7	5	257	1	0	1	0	1	0	0	0	0	13537	739	26	0	767	0	RPA2	1	28240614	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	301174	28240614	221010007	34	126966											
TINAGL1	64129	broad.mit.edu	37	chr1	32043047	32043047	+	Frame_Shift_Del	DEL	C	C	-													tcggcgtgccacccccttttCccccgatccaaggtgggcac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:32043046_32043046TC>T	uc001bta.3	+	1	423	c.297_297TC>T	c.(295-297)tttfs	p.F99fs	TINAGL1_uc010ogi.1_Frame_Shift_Del_p.F99fs|TINAGL1_uc010ogj.2_Frame_Shift_Del_p.F99fs|TINAGL1_uc010ogk.1_Frame_Shift_Del_p.F99fs|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	99					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)		CACCCCCTTTTCCCCCGATCC	0.592													-	32043047	C	-	32043047	7	5	257	1	0	1	0	1	0	0	0	0	15919	855	30	0	300	0	TINAGL1	1	32043047	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	3802433	32043047	217207574	35	126967											
PEF1	553115	broad.mit.edu	37	chr1	32096220	32096220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagatggttgggtcatagCatccgagaagctgtcatggt	13	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:32096220C>T	uc001bth.1	-	5	861	c.849G>A	c.(847-849)ATG>ATA	p.M283I	HCRTR1_uc010ogl.1_Intron|PEF1_uc001bte.1_3'UTR|PEF1_uc001btf.1_Missense_Mutation_p.M122I|PEF1_uc001btg.1_Missense_Mutation_p.M213I	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	283	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TGGGTCATAGCATCCGAGAAG	0.532													T	32096220	C	T	32096220	3	4	257	1	0	0	0	0	1	0	0	0	11718	710	25	2	9	2	PEF1	1	32096220	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	53173	32096220	217154401	36	126968											
KIAA1522	57648	broad.mit.edu	37	chr1	33235610	33235610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgggtgtccctgcaggCgctggaggcggaggcggagg	22	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33235610C>T	uc001bvv.2	+	6	789	c.653C>T	c.(652-654)GCG>GTG	p.A218V	KIAA1522_uc001bvu.1_Missense_Mutation_p.A277V|KIAA1522_uc010ohm.1_Missense_Mutation_p.A229V|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	218											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCCTGCAGGCGCTGGAGGCG	0.706													T	33235610	C	T	33235610	3	4	257	1	0	0	0	0	1	0	0	0	8238	768	27	1	852	1	KIAA1522	1	33235610	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1139390	33235610	216015011	37	126969											
KIAA1522	57648	broad.mit.edu	37	chr1	33236271	33236271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtaagctgaagcggccTccaccccctccccgccggac	10	20	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33236271T>C	uc001bvv.2	+	6	1450	c.1314T>C	c.(1312-1314)CCT>CCC	p.P438P	KIAA1522_uc001bvu.1_Silent_p.P497P|KIAA1522_uc010ohm.1_Silent_p.P449P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	438	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGAAGCGGCCTCCACCCCCTC	0.652													C	33236271	T	C	33236271	2	2	257	1	0	0	0	0	0	0	0	1	8238	1538	54	3		3	KIAA1522	1	33236271	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	661	33236271	216014350	38	126970											
ADC	113451	broad.mit.edu	37	chr1	33547940	33547940	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggaactcactctgggggcCtcacaggccaccacggtgag	13	13	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33547940C>A	uc001bwr.2	+	4	677	c.90C>A	c.(88-90)GCC>GCA	p.A30A	ADC_uc001bws.2_Silent_p.A30A|ADC_uc009vue.2_Silent_p.A30A|ADC_uc001bwt.1_5'UTR|ADC_uc001bwu.2_Intron|ADC_uc001bwv.2_Intron|ADC_uc001bww.2_5'UTR|ADC_uc001bwx.1_5'UTR|ADC_uc001bwz.1_Silent_p.A30A|ADC_uc009vuf.1_Silent_p.A30A|ADC_uc001bwy.1_5'UTR|ADC_uc009vug.2_Silent_p.A30A	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	30				MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATT -> QQ GSSVASTEPGSGTWKDHGWHAQGASWMGSHIHPLLVIQ (in Ref. 3; BAB85531).	polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CTCTGGGGGCCTCACAGGCCA	0.622													A	33547940	C	A	33547940	2	1	257	1	0	0	0	0	0	0	0	1	287	668	24	5		5	ADC	1	33547940	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	311669	33547940	215702681	39	126971											
TRIM62	55223	broad.mit.edu	37	chr1	33613029	33613029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgctgtactggttgccatCgtgcatcacgatgcagtaga	13	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33613029C>T	uc001bxb.2	-	5	1815	c.1177G>A	c.(1177-1179)GAT>AAT	p.D393N		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	393	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TGGTTGCCATCGTGCATCACG	0.617													T	33613029	C	T	33613029	3	4	257	1	0	0	0	0	1	0	0	0	16534	884	31	1	254	1	TRIM62	1	33613029	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	65089	33613029	215637592	40	126972											
CSMD2	114784	broad.mit.edu	37	chr1	34401390	34401390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagggggaagtcccacGtggcgctgttctcagagcca	15	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:34401390G>A	uc001bxn.1	-	4	592	c.563C>T	c.(562-564)ACG>ATG	p.T188M	CSMD2_uc001bxm.1_Missense_Mutation_p.T228M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	188	Sushi 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGTCCCACGTGGCGCTGTT	0.627													A	34401390	G	A	34401390	3	1	257	1	0	0	0	0	1	0	0	0	3945	1145	40	1	10164	1	CSMD2	1	34401390	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	788361	34401390	214849231	41	126973											
GJB4	127534	broad.mit.edu	37	chr1	35227549	35227549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgccgggaatgcctacccGatacgtgcccaccatatgtc	11	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:35227549G>A	uc001bxv.1	+	2	1064	c.694G>A	c.(694-696)GAT>AAT	p.D232N	GJB4_uc001bxw.3_Missense_Mutation_p.D232N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	232	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATGCCTACCCGATACGTGCCC	0.622													A	35227549	G	A	35227549	3	1	257	1	0	0	0	0	1	0	0	0	6410	1058	37	1	696	1	GJB4	1	35227549	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	826159	35227549	214023072	42	126974											
GJA4	2701	broad.mit.edu	37	chr1	35260154	35260154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaaggagggggagctgCgggcactgccggccaaggac	20	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:35260154C>T	uc001bya.2	+	2	428	c.340C>T	c.(340-342)CGG>TGG	p.R114W	GJA4_uc009vul.2_Missense_Mutation_p.R190W|GJA4_uc009vum.1_Missense_Mutation_p.R114W	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	114	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGGGAGCTGCGGGCACTGCC	0.652													T	35260154	C	T	35260154	3	4	257	1	0	0	0	0	1	0	0	0	6403	759	27	1	342	1	GJA4	1	35260154	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	32605	35260154	213990467	43	126975											
NCDN	23154	broad.mit.edu	37	chr1	36026171	36026171	+	Frame_Shift_Del	DEL	G	G	-													tagcaccttcctcacagcccGgggggacccggacgatgctg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:36026170_36026170CG>C	uc001bza.3	+	3	545	c.418_418CG>C	c.(418-420)cggfs	p.R140fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Del_p.R140fs|NCDN_uc001bzc.3_Frame_Shift_Del_p.R123fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	140					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)				CCTCACAGCCCGGGGGGACCC	0.632													-	36026171	G	-	36026171	7	5	257	1	0	1	0	1	0	0	0	0	10214	1116	39	0	429	0	NCDN	1	36026171	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	766017	36026171	213224450	44	126976											
EIF2C1	26523	broad.mit.edu	37	chr1	36379454	36379454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccttagctgaggtgaaaCgtgtcggagatacactcttg	12	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:36379454C>T	uc001bzl.2	+	13	1807	c.1594C>T	c.(1594-1596)CGT>TGT	p.R532C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R457C|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	532	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGGTGAAACGTGTCGGAGA	0.348													T	36379454	C	T	36379454	3	4	257	1	0	0	0	0	1	0	0	0	5005	536	19	1	1644	1	EIF2C1	1	36379454	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	353283	36379454	212871167	45	126977											
THRAP3	9967	broad.mit.edu	37	chr1	36754831	36754832	+	Frame_Shift_Ins	INS	-	-	G													gattctgagaagccttttcgINSgggcagtcagtctcccaaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:36754830_36754831C>CG	uc001cae.4	+	4	1434_1435	c.1210_1211C>CG	c.(1210-1212)cggfs	p.R404fs	THRAP3_uc001caf.4_Frame_Shift_Ins_p.R404fs|THRAP3_uc001cag.1_Frame_Shift_Ins_p.R404fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	404					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R404W(2)|p.R404L(2)		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)				GAAGCCTTTTCGGGGCAGTCAG	0.426			T	USP6	aneurysmal bone cysts								G	36754832	-	G	36754831	7	5	257	1	0	1	1	0	0	0	0	0	15871	1116	39	0	1221	0	THRAP3	1	36754831	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	375377	36754831	212495790	46	126978											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948615	37948615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacagacctatgccccatcAggcaggagcctcgcacctag	9	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:37948615A>G	uc001cbb.3	+	6	1353	c.1203A>G	c.(1201-1203)TCA>TCG	p.S401S	ZC3H12A_uc001cbc.1_Silent_p.S196S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	401					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATGCCCCATCAGGCAGGAGCC	0.632													G	37948615	A	G	37948615	2	3	257	1	0	0	0	0	0	0	0	1	17558	175	7	3		3	ZC3H12A	1	37948615	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1193784	37948615	211302006	47	126979											
EPHA10	284656	broad.mit.edu	37	chr1	38185238	38185238	+	Frame_Shift_Del	DEL	G	G	-													agaaggttaggacagttcctGgggggtggcagccggaagcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:38185237_38185237TG>T	uc009vvi.3	-	14	2691	c.2605_2605CA>A	c.(2605-2607)aggfs	p.R869fs	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	869	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)				GGACAGTTCCTGGGGGGTGGC	0.612													-	38185238	G	-	38185238	7	5	257	1	0	1	0	1	0	0	0	0	5166	1335	47	0	434	0	EPHA10	1	38185238	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	236623	38185238	211065383	48	126980											
POU3F1	5453	broad.mit.edu	37	chr1	38511579	38511579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccgtagagcgtgcccagCgccagccccacgtcggcctg	12	17	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:38511579C>T	uc001ccp.1	-	1	872	c.837G>A	c.(835-837)GCG>GCA	p.A279A		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	279	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCGTGCCCAGCGCCAGCCCCA	0.632													T	38511579	C	T	38511579	2	4	257	1	0	0	0	0	0	0	0	1	12274	755	27	1		1	POU3F1	1	38511579	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	326341	38511579	210739042	49	126981											
KIAA0754	643314	broad.mit.edu	37	chr1	39877464	39877464	+	Frame_Shift_Del	DEL	T	T	-													aatttactcgtaattagtcaTttttcaggggctgccttaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:39877463_39877463AT>A	uc009vvt.1	+	0	2288	c.1526_1526AT>A	c.(1525-1527)catfs	p.H509fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	373										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)			GTAATTAGTCATTTTTCAGGG	0.393													-	39877464	T	-	39877464	7	5	257	1	0	1	0	1	0	0	0	0	8192	1490	52	0	1529	0	KIAA0754	1	39877464	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1365885	39877464	209373157	50	126982											
NT5C1A	84618	broad.mit.edu	37	chr1	40137681	40137681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgggctcgcggggctcCtggggctcccggggctgccc	19	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:40137681C>T	uc001cdq.1	-	1	30	c.30G>A	c.(28-30)CAG>CAA	p.Q10Q		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	10				Missing (in Ref. 2; AAK30000).	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			ovary(1)	1	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)			CGCGGGGCTCCTGGGGCTCCC	0.721													T	40137681	C	T	40137681	2	4	257	1	0	0	0	0	0	0	0	1	10685	680	24	4		4	NT5C1A	1	40137681	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	260217	40137681	209112940	51	126983											
TRIT1	54802	broad.mit.edu	37	chr1	40309784	40309784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactctacctgcccattcgCgatccccaatgatgattcga	6	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:40309784C>T	uc010oiz.1	-	10	1237	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.R104H|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.R162H|TRIT1_uc001ceh.3_Missense_Mutation_p.R162H|TRIT1_uc009vvv.2_Missense_Mutation_p.R241H|TRIT1_uc001cei.3_Missense_Mutation_p.R162H|TRIT1_uc001ceq.2_Missense_Mutation_p.R104H|TRIT1_uc001cek.2_Missense_Mutation_p.R104H|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.R326H|TRIT1_uc001cen.2_Missense_Mutation_p.R162H|TRIT1_uc001ceo.2_Missense_Mutation_p.R162H|TRIT1_uc001cep.2_Missense_Mutation_p.R162H	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	408	Matrin-type.				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-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;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCCCATTCGCGATCCCCAAT	0.448													T	40309784	C	T	40309784	3	4	257	1	0	0	0	0	1	0	0	0	16557	768	27	1	188	1	TRIT1	1	40309784	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	172103	40309784	208940837	52	126984											
TIE1	7075	broad.mit.edu	37	chr1	43777469	43777469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcactaccggccccaGgacagtaccatggactggtc	11	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:43777469G>A	uc001ciu.2	+	10	1540	c.1461G>A	c.(1459-1461)CAG>CAA	p.Q487Q	TIE1_uc010okd.1_Silent_p.Q487Q|TIE1_uc010oke.1_Silent_p.Q442Q|TIE1_uc009vwq.2_Silent_p.Q443Q|TIE1_uc010okf.1_Silent_p.Q132Q|TIE1_uc010okg.1_Silent_p.Q132Q	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	487	Extracellular (Potential).|Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCGGCCCCAGGACAGTACCA	0.607													A	43777469	G	A	43777469	2	1	257	1	0	0	0	0	0	0	0	1	15890	991	35	4		4	TIE1	1	43777469	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3467685	43777469	205473152	53	126985											
RNF220	55182	broad.mit.edu	37	chr1	44877961	44877961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatattcctttcaccaaCggttcctatacctttgcctc	5	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:44877961C>T	uc001clv.1	+	2	552	c.192C>T	c.(190-192)AAC>AAT	p.N64N	RNF220_uc001clw.1_Silent_p.N64N	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	64					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTTTCACCAACGGTTCCTATA	0.547													T	44877961	C	T	44877961	2	4	257	1	0	0	0	0	0	0	0	1	13483	535	19	1		1	RNF220	1	44877961	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1100492	44877961	204372660	54	126986											
RNF220	55182	broad.mit.edu	37	chr1	45111136	45111136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggccatgcagaagaCctgcaagaacagcgacatcg	13	11	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:45111136C>T	uc001clv.1	+	12	1781	c.1421C>T	c.(1420-1422)ACC>ATC	p.T474I	RNF220_uc001clw.1_Missense_Mutation_p.T474I|RNF220_uc010oky.1_Missense_Mutation_p.T261I|RNF220_uc010okz.1_Missense_Mutation_p.T216I|RNF220_uc001clx.1_Missense_Mutation_p.T190I|RNF220_uc001cly.1_Missense_Mutation_p.T154I|RNF220_uc001clz.1_Missense_Mutation_p.T153I|RNF220_uc001cma.1_Missense_Mutation_p.T153I|TMEM53_uc001cmb.1_Missense_Mutation_p.V62I	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	474					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ATGCAGAAGACCTGCAAGAAC	0.592													T	45111136	C	T	45111136	3	4	257	1	0	0	0	0	1	0	0	0	13483	507	18	4	1463	4	RNF220	1	45111136	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	233175	45111136	204139485	55	126987											
TOE1	114034	broad.mit.edu	37	chr1	45808309	45808309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttagaatatgccttccGgaaatggtgaggaaatggtt	11	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:45808309G>A	uc009vxq.2	+	6	1329	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R169Q|TOE1_uc010oln.1_Missense_Mutation_p.R255Q|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	249						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					TATGCCTTCCGGAAATGGTGA	0.378													A	45808309	G	A	45808309	3	1	257	1	0	0	0	0	1	0	0	0	16346	1116	39	1	768	1	TOE1	1	45808309	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	697173	45808309	203442312	56	126988											
LRRC41	10489	broad.mit.edu	37	chr1	46745205	46745205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcccttcagtgtggagTtgcccttcatagcagcaacc	12	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:46745205T>C	uc001cpn.2	-	8	2146	c.2102A>G	c.(2101-2103)AAC>AGC	p.N701S	LRRC41_uc010omb.1_Missense_Mutation_p.N701S	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	701	LRR 6.									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CAGTGTGGAGTTGCCCTTCAT	0.557													C	46745205	T	C	46745205	3	2	257	1	0	0	0	0	1	0	0	0	8999	1725	60	3	348	3	LRRC41	1	46745205	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	936896	46745205	202505416	57	126989											
TAL1	6886	broad.mit.edu	37	chr1	47691535	47691535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggggtcactgcgagccGcctcgctcggcggccgctcg	17	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:47691535G>A	uc001cqx.2	-	2	603	c.26C>T	c.(25-27)GCG>GTG	p.A9V	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Missense_Mutation_p.A9V|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	9					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			lung(1)	1						ACTGCGAGCCGCCTCGCTCGG	0.716			T	TRD@|SIL	lymphoblastic leukemia/biphasic								A	47691535	G	A	47691535	3	1	257	1	0	0	0	0	1	0	0	0	15538	1087	38	1	981	1	TAL1	1	47691535	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	946330	47691535	201559086	58	126990											
ZFYVE9	9372	broad.mit.edu	37	chr1	52803538	52803538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcacctgtgggaaggcGgacgcggaggaaccccagga	15	12	1	0	rs146867741		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:52803538G>A	uc001cto.2	+	16	3937	c.3765G>A	c.(3763-3765)GCG>GCA	p.A1255A	ZFYVE9_uc001ctp.2_Silent_p.A1196A	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1255					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			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GTGGGAAGGCGGACGCGGAGG	0.527													A	52803538	G	A	52803538	2	1	257	1	0	0	0	0	0	0	0	1	17668	1103	39	1		1	ZFYVE9	1	52803538	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5112003	52803538	196447083	59	126991											
PRPF38A	84950	broad.mit.edu	37	chr1	52881019	52881019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccccaggtcatcaccGtagtcacagacacaggagcc	8	15	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:52881019G>A	uc001ctv.3	+	9	1060	c.857G>A	c.(856-858)CGT>CAT	p.R286H	PRPF38A_uc001ctw.3_Missense_Mutation_p.V97I	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	286	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex					0						GGTCATCACCGTAGTCACAGA	0.423													A	52881019	G	A	52881019	3	1	257	1	0	0	0	0	1	0	0	0	12567	1145	40	1	891	1	PRPF38A	1	52881019	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	77481	52881019	196369602	60	126992											
GLIS1	148979	broad.mit.edu	37	chr1	53980428	53980429	+	Frame_Shift_Ins	INS	-	-	G													cccgatgcaagtccgttatgINSgggggtgatggagccaggat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:53980427_53980428T>TG	uc001cvr.1	-	6	1795_1796	c.1228_1229A>CA	c.(1228-1230)catfs	p.H410fs		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	410					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						AAGTCCGTTATGGGGGGTGATG	0.614													G	53980429	-	G	53980428	7	5	257	1	0	1	1	0	0	0	0	0	6445	1348	47	0	650	0	GLIS1	1	53980428	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1099409	53980428	195270193	61	126993											
TMEM48	55706	broad.mit.edu	37	chr1	54291559	54291559	+	Frame_Shift_Del	DEL	A	A	-													taaatgctccagtcagtaggAaaaaaagatgatattcattt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:54291558_54291558GA>G	uc001cvs.3	-	4	798	c.507_507TC>C	c.(505-507)ttcfs	p.F169fs	TMEM48_uc010onu.2_Frame_Shift_Del_p.F129fs|TMEM48_uc001cvt.3_Frame_Shift_Del_p.F46fs|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	169					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTCAGTAGGAAAAAAAGAT	0.373													-	54291559	A	-	54291559	7	5	257	1	0	1	0	1	0	0	0	0	16169	246	9	0	1574	0	TMEM48	1	54291559	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	311131	54291559	194959062	62	126994											
ACOT11	26027	broad.mit.edu	37	chr1	55065021	55065021	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgaaatgttccacttcCgaggcccgtcccaggtcggc	10	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:55065021C>T	uc001cxm.1	+	8	899	c.817C>T	c.(817-819)CGA>TGA	p.R273*	ACOT11_uc001cxj.1_Nonsense_Mutation_p.R151*|ACOT11_uc001cxl.1_Nonsense_Mutation_p.R273*	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	273	Coenzyme A binding (By similarity).|Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						GTTCCACTTCCGAGGCCCGTC	0.612													T	55065021	C	T	55065021	4	4	257	1	0	0	0	0	0	1	0	0	149	644	23	1	847	1	ACOT11	1	55065021	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	773462	55065021	194185600	63	126995											
BSND	7809	broad.mit.edu	37	chr1	55472881	55472881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctggatggaggctgccGtggtcatccacaagggctca	15	11	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:55472881G>A	uc001cye.2	+	3	727	c.484G>A	c.(484-486)GTG>ATG	p.V162M		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	162	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2						GGAGGCTGCCGTGGTCATCCA	0.642													A	55472881	G	A	55472881	3	1	257	1	0	0	0	0	1	0	0	0	1531	1145	40	1	494	1	BSND	1	55472881	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	407860	55472881	193777740	64	126996											
C8B	732	broad.mit.edu	37	chr1	57406539	57406539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccttaactttgatgatggCtgggttgtactgcacagcgt	11	8	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:57406539C>A	uc001cyp.2	-	9	1448	c.1381G>T	c.(1381-1383)GCC>TCC	p.A461S	C8B_uc010oon.1_Missense_Mutation_p.A399S|C8B_uc010ooo.1_Missense_Mutation_p.A409S	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	461	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TTGATGATGGCTGGGTTGTAC	0.547													A	57406539	C	A	57406539	3	1	257	1	0	0	0	0	1	0	0	0	2417	797	28	5	410	5	C8B	1	57406539	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1933658	57406539	191844082	65	126997											
INADL	10207	broad.mit.edu	37	chr1	62257034	62257034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggacagttctcttttTgaaacttataatgttgagct	7	5	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:62257034T>C	uc001dab.2	+	9	1197	c.1083T>C	c.(1081-1083)TTT>TTC	p.F361F	INADL_uc009waf.1_Silent_p.F361F|INADL_uc001daa.2_Silent_p.F361F|INADL_uc001dad.3_Silent_p.F58F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	361					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GTTCTCTTTTTGAAACTTATA	0.333													C	62257034	T	C	62257034	2	2	257	1	0	0	0	0	0	0	0	1	7731	1809	63	3		3	INADL	1	62257034	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4850495	62257034	186993587	66	126998											
INADL	10207	broad.mit.edu	37	chr1	62594546	62594546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagcattaacgggcaaCctttggatgggctgtctcac	11	10	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:62594546C>T	uc001dab.2	+	41	5314	c.5200C>T	c.(5200-5202)CCT>TCT	p.P1734S	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.P518S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1734	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TAACGGGCAACCTTTGGATGG	0.443													T	62594546	C	T	62594546	3	4	257	1	0	0	0	0	1	0	0	0	7731	507	18	4	5358	4	INADL	1	62594546	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	337512	62594546	186656075	67	126999											
DOCK7	85440	broad.mit.edu	37	chr1	62939733	62939733	+	Frame_Shift_Del	DEL	A	A	-													tcactaggtatttcagacagAaaaacctgggcaacttccaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:62939732_62939732GA>G	uc001daq.3	-	46	6134	c.6100_6100TC>C	c.(6100-6102)ctgfs	p.L2034fs	DOCK7_uc001dan.3_Frame_Shift_Del_p.L1897fs|DOCK7_uc001dao.3_Frame_Shift_Del_p.L1895fs|DOCK7_uc001dap.3_Frame_Shift_Del_p.L2014fs|DOCK7_uc001dam.3_Frame_Shift_Del_p.L1216fs|DOCK7_uc010oov.1_Frame_Shift_Del_p.L775fs|DOCK7_uc001dar.1_Frame_Shift_Del_p.L208fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	2045	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|Rac GTPase binding|guanyl-nucleotide exchange factor activity			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						ATTTCAGACAGAAAAACCTGG	0.358													-	62939733	A	-	62939733	7	5	257	1	0	1	0	1	0	0	0	0	4692	243	9	0	302	0	DOCK7	1	62939733	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	345187	62939733	186310888	68	127000											
JAK1	3716	broad.mit.edu	37	chr1	65301079	65301079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgtggcccatagatacCtcatctggacagttaggtgg	13	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:65301079C>A	uc001dbu.1	-	24	3618	c.3369G>T	c.(3367-3369)GAG>GAT	p.E1123D	JAK1_uc009wam.1_Missense_Mutation_p.E1111D|JAK1_uc009wal.1_Missense_Mutation_p.E300D	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	1123	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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CCATAGATACCTCATCTGGAC	0.468			Mis		ALL								A	65301079	C	A	65301079	3	1	257	1	0	0	0	0	1	0	0	0	7937	695	24	5	103	5	JAK1	1	65301079	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2361346	65301079	183949542	69	127001											
IL23R	149233	broad.mit.edu	37	chr1	67666539	67666539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaaacgcactaggcaTggaagagtcaaaacaactgc	10	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:67666539T>C	uc001ddo.2	+	5	696	c.611T>C	c.(610-612)ATG>ACG	p.M204T	IL23R_uc009waz.2_Missense_Mutation_p.M1T|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Missense_Mutation_p.M161T|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Missense_Mutation_p.M49T|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.M63T|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.M63T|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.M1T|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_Missense_Mutation_p.M1T|IL23R_uc010opv.1_Missense_Mutation_p.M63T|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Missense_Mutation_p.M1T|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Missense_Mutation_p.M63T|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	204	Extracellular (Potential).|Fibronectin type-III 1.				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				0						GCACTAGGCATGGAAGAGTCA	0.388													C	67666539	T	C	67666539	3	2	257	1	0	0	0	0	1	0	0	0	7676	1464	51	3	625	3	IL23R	1	67666539	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2365460	67666539	181584082	70	127002											
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433													-	68171151	T	-	68171151	7	5	257	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	504612	68171151	181079470	71	127003											
LRRC7	57554	broad.mit.edu	37	chr1	70509673	70509673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatacagttaaccttggcAtgctgccctatggaggtatt	9	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:70509673A>G	uc001dep.2	+	20	3922	c.3892A>G	c.(3892-3894)ATG>GTG	p.M1298V	LRRC7_uc009wbg.2_Missense_Mutation_p.M582V|LRRC7_uc001deq.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1298						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TAACCTTGGCATGCTGCCCTA	0.393													G	70509673	A	G	70509673	3	3	257	1	0	0	0	0	1	0	0	0	9020	217	8	3	3970	3	LRRC7	1	70509673	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2338522	70509673	178740948	72	127004											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648381	74648381	+	Frame_Shift_Del	DEL	T	T	-													acaagaacatgtctatatccTtttttaaggcttactggaca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:74648380_74648380CT>C	uc001dfy.4	-	2	607	c.415_415AG>G	c.(415-417)ggafs	p.G139fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	139	LRRCT.							p.G139*(2)		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						TGTCTATATCCTTTTTTAAGG	0.378													-	74648381	T	-	74648381	7	5	257	1	0	1	0	1	0	0	0	0	9030	1606	56	0	1484	0	LRRIQ3	1	74648381	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	4138708	74648381	174602240	73	127005											
AK5	26289	broad.mit.edu	37	chr1	77806069	77806069	+	Frame_Shift_Del	DEL	C	C	-													atgctctccacagatctgtaCccccgatttggtggtattcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:77806068_77806068AC>A	uc001dhn.3	+	5	1043	c.706_706AC>A	c.(706-708)accfs	p.T236fs	AK5_uc001dho.3_Frame_Shift_Del_p.T210fs	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	236					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|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						ACAGATCTGTACCCCCGATTT	0.463													-	77806069	C	-	77806069	7	5	257	1	0	1	0	1	0	0	0	0	443	507	18	0	729	0	AK5	1	77806069	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	3157688	77806069	171444552	74	127006											
ELTD1	64123	broad.mit.edu	37	chr1	79403534	79403534	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactctgtggtcttttggaAgctctgggatatccttaaag	10	7	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:79403534A>C	uc001diq.3	-	6	874	c.718T>G	c.(718-720)TTC>GTC	p.F240V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	240	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTCTTTTGGAAGCTCTGGGAT	0.348													C	79403534	A	C	79403534	3	2	257	1	0	0	0	0	1	0	0	0	5084	72	3	5	1394	5	ELTD1	1	79403534	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1597465	79403534	169847087	75	127007											
PKN2	5586	broad.mit.edu	37	chr1	89206691	89206691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggattcccgaagtcttccGttttctgagaatgtgagtgc	13	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:89206691G>A	uc001dmn.2	+	2	411	c.69G>A	c.(67-69)CCG>CCA	p.P23P	PKN2_uc001dmm.1_Silent_p.P23P|PKN2_uc010osp.1_Silent_p.P23P|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Silent_p.P23P	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	23					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAAGTCTTCCGTTTTCTGAGA	0.378													A	89206691	G	A	89206691	2	1	257	1	0	0	0	0	0	0	0	1	11980	1132	40	1		1	PKN2	1	89206691	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	9803157	89206691	160043930	76	127008											
GBP3	2635	broad.mit.edu	37	chr1	89478904	89478905	+	Frame_Shift_Del	DEL	TA	TA	-													gatgcctcctgaaagagtttTagttttggaattgctaaaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:89478903_89478904TTA>T	uc001dmt.3	-	5	1037_1038	c.832_833TAA>A	c.(832-834)aaafs	p.K278fs	GBP3_uc010oss.2_Frame_Shift_Del_p.K199fs|GBP3_uc001dmu.3_Frame_Shift_Del_p.K144fs|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Frame_Shift_Del_p.K278fs	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	278						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)		TGAAAGAGTTTTAGTTTTGGAA	0.446													-	89478905	TA	-	89478904	7	5	257	1	0	1	0	1	0	0	0	0	6275	1763	61	0	979	0	GBP3	1	89478904	Frame_Shift_Del	DEL	TA	TCGA-HU-8602-01A-11D-2394-08	272213	89478904	159771717	77	127009											
EPHX4	253152	broad.mit.edu	37	chr1	92511122	92511123	+	Frame_Shift_Ins	INS	-	-	G													gttcttattggccatgactgINSggggggcatgattgcttggc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:92511121_92511122T>TG	uc001don.2	+	3	612_613	c.508_509T>TG	c.(508-510)tggfs	p.W170fs		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													G	92511123	-	G	92511122	7	5	257	1	0	1	1	0	0	0	0	0	5182	1357	47	0	523	0	EPHX4	1	92511122	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	3032218	92511122	156739499	78	127010											
FNBP1L	54874	broad.mit.edu	37	chr1	94016562	94016562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctctacattatagaggaGgacaaaggtgacggatggac	13	6	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:94016562G>T	uc001dpw.2	+	14	1536	c.1536G>T	c.(1534-1536)GAG>GAT	p.E512D	FNBP1L_uc001dpv.2_Missense_Mutation_p.E512D|FNBP1L_uc010otk.1_Missense_Mutation_p.E390D|FNBP1L_uc010otl.1_Missense_Mutation_p.E122D	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	570	Interaction with DNM2 and WASL.|Interaction with DNM1.|SH3.|Interaction with DAAM1, DIAPH1 and DIAPH2.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TTATAGAGGAGGACAAAGGTG	0.403													T	94016562	G	T	94016562	3	4	257	1	0	0	0	0	1	0	0	0	5966	991	35	5	1772	5	FNBP1L	1	94016562	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1505440	94016562	155234059	79	127011											
LPPR4	9890	broad.mit.edu	37	chr1	99771804	99771804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcctggcgctgtcccCggatgtaacaacagcatgcc	10	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:99771804C>T	uc001dse.2	+	7	1636	c.1530C>T	c.(1528-1530)CCC>CCT	p.P510P	LPPR4_uc010oue.1_Silent_p.P452P	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	510							phosphatidate phosphatase activity			ovary(3)	3		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)		GCGCTGTCCCCGGATGTAACA	0.552													T	99771804	C	T	99771804	2	4	257	1	0	0	0	0	0	0	0	1	8927	639	23	1		1	LPPR4	1	99771804	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5755242	99771804	149478817	80	127012											
AGL	178	broad.mit.edu	37	chr1	100378028	100378029	+	Frame_Shift_Ins	INS	-	-	A													ctggttgctggaattatccaINSaaaaaaatattttcccttat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:100378027_100378028C>CA	uc001dsi.1	+	28	4303_4304	c.3903_3904C>CA	c.(3901-3906)tccaaafs	p.S1301fs	AGL_uc001dsj.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsk.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsl.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsm.1_Frame_Shift_Ins_p.S1285fs|AGL_uc001dsn.1_Frame_Shift_Ins_p.S1284fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1301					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)		TGGAATTATCCAAAAAAAATAT	0.322													A	100378029	-	A	100378028	7	5	257	1	0	1	1	0	0	0	0	0	384	131	5	0	4083	0	AGL	1	100378028	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	606224	100378028	148872593	81	127013											
COL11A1	1301	broad.mit.edu	37	chr1	103573701	103573701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaatcccagagccaccGtttcgttttccacctagagg	10	12	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:103573701G>A	uc001dul.2	-	1	352	c.34C>T	c.(34-36)CGG>TGG	p.R12W	COL11A1_uc001dum.2_Missense_Mutation_p.R12W|COL11A1_uc001dun.2_Missense_Mutation_p.R12W|COL11A1_uc009weh.2_Missense_Mutation_p.R12W	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	12					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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CAGAGCCACCGTTTCGTTTTC	0.532													A	103573701	G	A	103573701	3	1	257	1	0	0	0	0	1	0	0	0	3667	1144	40	1	5811	1	COL11A1	1	103573701	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3195673	103573701	145676920	82	127014											
NTNG1	22854	broad.mit.edu	37	chr1	107867123	107867123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattacctttgaatctgggCgtccagaccaaatgatcctg	8	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:107867123C>T	uc001dvh.3	+	3	1184	c.466C>T	c.(466-468)CGT>TGT	p.R156C	NTNG1_uc001dvf.3_Missense_Mutation_p.R156C|NTNG1_uc010out.1_Missense_Mutation_p.R156C|NTNG1_uc001dvc.3_Missense_Mutation_p.R156C|NTNG1_uc001dvd.1_Missense_Mutation_p.R156C	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	156	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		TGAATCTGGGCGTCCAGACCA	0.448													T	107867123	C	T	107867123	3	4	257	1	0	0	0	0	1	0	0	0	10704	768	27	1	472	1	NTNG1	1	107867123	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4293422	107867123	141383498	83	127015											
GPR61	83873	broad.mit.edu	37	chr1	110086062	110086062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagccatcaatgtggagCgctactattacgtagtccac	9	11	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:110086062C>T	uc001dxy.2	+	2	1101	c.418C>T	c.(418-420)CGC>TGC	p.R140C		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	140	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		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)		CAATGTGGAGCGCTACTATTA	0.612													T	110086062	C	T	110086062	3	4	257	1	0	0	0	0	1	0	0	0	6702	768	27	1	420	1	GPR61	1	110086062	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2218939	110086062	139164559	84	127016											
RBM15	64783	broad.mit.edu	37	chr1	110883440	110883440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttcctcttgctgccctGgcacgagaatttgatcgatt	11	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:110883440G>A	uc001dzl.1	+	1	1496	c.1413G>A	c.(1411-1413)CTG>CTA	p.L471L	RBM15_uc001dzm.1_Silent_p.L471L|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	471	RRM 3.				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)		TTGCTGCCCTGGCACGAGAAT	0.498			T	MKL1	acute megakaryocytic leukemia								A	110883440	G	A	110883440	2	1	257	1	0	0	0	0	0	0	0	1	13116	1335	47	4		4	RBM15	1	110883440	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	797378	110883440	138367181	85	127017											
C1orf88	128344	broad.mit.edu	37	chr1	111892836	111892836	+	Frame_Shift_Del	DEL	A	A	-													tgtctacagaaaagaaccctAaaagctgaggtaataagatt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:111892835_111892835TA>T	uc001eaw.2	+	4	577	c.497_497TA>T	c.(496-498)ctafs	p.L166fs	C1orf88_uc001eax.2_Frame_Shift_Del_p.L133fs|C1orf88_uc009wge.1_Frame_Shift_Del_p.P89fs	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	Homo sapiens chromosome 1 open reading frame 88 (C1orf88), mRNA.	166										breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)	14		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAAAGAACCCTAAAAGCTGAG	0.423													-	111892836	A	-	111892836	7	5	257	1	0	1	0	1	0	0	0	0	2065	349	13	0	516	0	C1orf88	1	111892836	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1009396	111892836	137357785	86	127018											
WARS2	10352	broad.mit.edu	37	chr1	119575715	119575715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacggccagcttgtagCgagcagtgttcatgcccgcg	13	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:119575715C>T	uc001ehn.2	-	6	930	c.902G>A	c.(901-903)CGC>CAC	p.R301H	WARS2_uc010oxf.1_Missense_Mutation_p.R207H|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R244H|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	301					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	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)	CAGCTTGTAGCGAGCAGTGTT	0.577													T	119575715	C	T	119575715	3	4	257	1	0	0	0	0	1	0	0	0	17247	768	27	1	184	1	WARS2	1	119575715	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7682879	119575715	129674906	87	127019											
SF3B4	10262	broad.mit.edu	37	chr1	149898777	149898777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatggcatagtcagcaTcttcctcactcaagaattcc	5	12	5	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:149898777T>C	uc001etj.1	-	3	248	c.197A>G	c.(196-198)GAT>GGT	p.D66G	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.D66G|SF3B4_uc009wll.1_Missense_Mutation_p.D66G	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	66	RRM 1.					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|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)			ATAGTCAGCATCTTCCTCACT	0.418													C	149898777	T	C	149898777	3	2	257	1	0	0	0	0	1	0	0	0	14153	1435	50	3	1093	3	SF3B4	1	149898777	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	30323062	149898777	99351844	88	127020											
CGN	57530	broad.mit.edu	37	chr1	151495931	151495931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagaagctagagccaTcccaagttgggctggagcgg	16	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:151495931T>C	uc009wmw.2	+	6	1306	c.1162T>C	c.(1162-1164)TCC>CCC	p.S388P		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	382	Interacts with ZO-2.|Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	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)			GCTAGAGCCATCCCAAGTTGG	0.537													C	151495931	T	C	151495931	3	2	257	1	0	0	0	0	1	0	0	0	3303	1435	50	3	1180	3	CGN	1	151495931	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1597154	151495931	97754690	89	127021											
TCHH	7062	broad.mit.edu	37	chr1	152081372	152081372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctctctcgttcctggcGgcgcacctgctgttcctctt	8	15	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:152081372G>A	uc001ezp.2	-	2	4321	c.4321C>T	c.(4321-4323)CGC>TGC	p.R1441C	TCHH_uc009wne.1_Missense_Mutation_p.R1441C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1441	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTTCCTGGCGGCGCACCTGC	0.577											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	A	152081372	G	A	152081372	3	1	257	1	0	0	0	0	1	0	0	0	15697	1116	39	1	1514	1	TCHH	1	152081372	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	585441	152081372	97169249	90	127022											
SPRR3	6707	broad.mit.edu	37	chr1	152975993	152975993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccagctcagcagaagaCcaagcagaagtaatttggtg	12	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:152975993C>T	uc001fax.3	+	3	647	c.497C>T	c.(496-498)ACC>ATC	p.T166I	SPRR3_uc001faz.3_Missense_Mutation_p.T166I|SPRR3_uc001fay.2_Missense_Mutation_p.T158I	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	166					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	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)			CAGCAGAAGACCAAGCAGAAG	0.507													T	152975993	C	T	152975993	3	4	257	1	0	0	0	0	1	0	0	0	15102	507	18	4	499	4	SPRR3	1	152975993	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	894621	152975993	96274628	91	127023											
NPR1	4881	broad.mit.edu	37	chr1	153657486	153657486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggagctgtggcgggtgCgctgggaggacgttgagccc	19	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:153657486C>T	uc001fcs.3	+	8	1952	c.1531C>T	c.(1531-1533)CGC>TGC	p.R511C	NPR1_uc010pdz.1_Missense_Mutation_p.R257C|NPR1_uc010pea.1_Missense_Mutation_p.R15C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	511	Cytoplasmic (Potential).				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			ovary(3)|lung(2)|stomach(1)|breast(1)	7	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)	GTGGCGGGTGCGCTGGGAGGA	0.642													T	153657486	C	T	153657486	3	4	257	1	0	0	0	0	1	0	0	0	10594	768	27	1	1561	1	NPR1	1	153657486	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	681493	153657486	95593135	92	127024											
EFNA3	1944	broad.mit.edu	37	chr1	155041388	155041388	+	Frame_Shift_Del	DEL	G	G	-													gtggcacatcagggtggcgaGggggggacactcccagcccc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:155041387_155041387AG>A	uc001fhd.3	+	3	615	c.528_528AG>A	c.(526-528)cgafs	p.R176fs	EFNA3_uc010pew.2_Intron|EFNA3_uc001fhc.3_Intron|EFNA3_uc001fhe.3_Intron	NM_005227	NP_005218	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 1, mRNA.	72					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)			CAGGGTGGCGAGGGGGGGACA	0.577													-	155041388	G	-	155041388	7	5	257	1	0	1	0	1	0	0	0	0	4952	1000	35	0		0	EFNA3	1	155041388	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1383902	155041388	94209233	93	127025											
FAM189B	10712	broad.mit.edu	37	chr1	155223469	155223470	+	Frame_Shift_Del	DEL	GT	GT	-													gcagcagacaatagcagagaGtgtacagattatagcggcac					rs147288480		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:155223468_155223469AGT>A	uc001fjm.3	-	4	1174_1175	c.568_569ACT>T	c.(568-570)ctcfs	p.L190fs	FAM189B_uc009wql.3_5'Flank|FAM189B_uc001fjn.3_Frame_Shift_Del_p.L94fs|FAM189B_uc001fjo.3_Frame_Shift_Del_p.L171fs|FAM189B_uc001fjp.3_Non-coding_Transcript|FAM189B_uc001fjq.1_Frame_Shift_Del_p.L190fs	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	190						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATAGCAGAGAGTGTACAGATT	0.574													-	155223470	GT	-	155223469	7	5	257	1	0	1	0	1	0	0	0	0	5517	1029	36	0	1470	0	FAM189B	1	155223469	Frame_Shift_Del	DEL	GT	TCGA-HU-8602-01A-11D-2394-08	182081	155223469	94027152	94	127026											
ASH1L	55870	broad.mit.edu	37	chr1	155448115	155448115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctttccaaatctatagcGcttcaaagattccaggacag	6	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:155448115G>A	uc009wqq.2	-	3	5026	c.4546C>T	c.(4546-4548)CGC>TGC	p.R1516C	ASH1L_uc001fkt.2_Missense_Mutation_p.R1516C|ASH1L_uc009wqr.1_Missense_Mutation_p.R1516C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1516					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			AATCTATAGCGCTTCAAAGAT	0.473													A	155448115	G	A	155448115	3	1	257	1	0	0	0	0	1	0	0	0	1041	1087	38	1	4452	1	ASH1L	1	155448115	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	224646	155448115	93802506	95	127027											
UBQLN4	56893	broad.mit.edu	37	chr1	156020124	156020124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcatgtggctgatctcAgggttccgctccatcaactg	11	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:156020124A>G	uc001fna.2	-	4	723	c.699T>C	c.(697-699)CCT>CCC	p.P233P	UBQLN4_uc010pgx.1_Silent_p.P213P	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	233						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGCTGATCTCAGGGTTCCGCT	0.562													G	156020124	A	G	156020124	2	3	257	1	0	0	0	0	0	0	0	1	16896	175	7	3		3	UBQLN4	1	156020124	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	572009	156020124	93230497	96	127028											
NTRK1	4914	broad.mit.edu	37	chr1	156844801	156844801	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaagtttgggatcaaccGtgagtcggggctgcagaggg	16	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:156844801G>A	uc001fqh.1	+	11	1410	c.1354_splice	c.e11+1	p.R452_splice	NTRK1_uc001fqf.1_Splice_Site_p.R416_splice|NTRK1_uc009wsi.1_Splice_Site_p.R151_splice|NTRK1_uc001fqi.1_Splice_Site_p.R446_splice|NTRK1_uc009wsk.1_Splice_Site_p.R446_splice	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGATCAACCGTGAGTCGGGG	0.567			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			A	156844801	G	A	156844801	5	1	257	1	0	0	0	0	0	0	1	0	10706	1159	40	1	1527	1	NTRK1	1	156844801	Splice_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08	824677	156844801	92405820	97	127029											
ARHGEF11	9826	broad.mit.edu	37	chr1	156931470	156931470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctatgactgccttaccGcatttttctccaggaaaata	5	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:156931470G>A	uc001fqo.2	-	13	2158	c.1118C>T	c.(1117-1119)GCG>GTG	p.A373V	ARHGEF11_uc001fqn.2_Missense_Mutation_p.A413V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	373	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCTTACCGCATTTTTCTC	0.413													A	156931470	G	A	156931470	3	1	257	1	0	0	0	0	1	0	0	0	896	1101	38	1	3562	1	ARHGEF11	1	156931470	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	86669	156931470	92319151	98	127030											
FCRL5	83416	broad.mit.edu	37	chr1	157488559	157488559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggctcttgggagtccgAgtctgaagggctcctgtgag	18	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:157488559A>G	uc001fqu.2	-	14	2832	c.2674T>C	c.(2674-2676)TCG>CCG	p.S892P	FCRL5_uc009wsm.2_Missense_Mutation_p.S892P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	892	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGGGAGTCCGAGTCTGAAGGG	0.483													G	157488559	A	G	157488559	3	3	257	1	0	0	0	0	1	0	0	0	5798	304	11	3	275	3	FCRL5	1	157488559	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	557089	157488559	91762062	99	127031											
FCRL1	115350	broad.mit.edu	37	chr1	157767978	157767978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatataggctgtagctgccCtggggtaggtgagttgaggt	16	5	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:157767978C>A	uc001frg.2	-	8	1200	c.1087G>T	c.(1087-1089)GGG>TGG	p.G363W	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.G363W|FCRL1_uc001fri.2_Missense_Mutation_p.G324W|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	363	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTAGCTGCCCTGGGGTAGGT	0.502													A	157767978	C	A	157767978	3	1	257	1	0	0	0	0	1	0	0	0	5794	681	24	5	284	5	FCRL1	1	157767978	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	279419	157767978	91482643	100	127032											
OR6Y1	391112	broad.mit.edu	37	chr1	158517426	158517426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taatcatggcagtcatgagtCcacagaaccagcatcctcca	7	13	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:158517426C>T	uc010pil.1	-	1	470	c.470G>A	c.(469-471)GGA>GAA	p.G157E		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGTCATGAGTCCACAGAACCA	0.468													T	158517426	C	T	158517426	3	4	257	1	0	0	0	0	1	0	0	0	11213	855	30	4	509	4	OR6Y1	1	158517426	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	749448	158517426	90733195	101	127033											
OR6K2	81448	broad.mit.edu	37	chr1	158669761	158669761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccagctgaatgaatacGtagaattacagccacaatac	7	11	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:158669761G>A	uc001fsu.1	-	1	682	c.682C>T	c.(682-684)CGT>TGT	p.R228C		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GAATGAATACGTAGAATTACA	0.458													A	158669761	G	A	158669761	3	1	257	1	0	0	0	0	1	0	0	0	11202	1145	40	1	296	1	OR6K2	1	158669761	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	152335	158669761	90580860	102	127034											
IFI16	3428	broad.mit.edu	37	chr1	159021772	159021772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgatgtgaatgctgacCgaaacatggagatcccaaaa	11	8	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:159021772C>T	uc001ftg.2	+	9	2091	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	IFI16_uc010pis.1_Nonsense_Mutation_p.R601*|IFI16_uc001fth.2_Nonsense_Mutation_p.R144*|IFI16_uc010pit.1_Nonsense_Mutation_p.R200*	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	657	HIN-200 2.				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			ovary(1)	1	all_hematologic(112;0.0429)					GAATGCTGACCGAAACATGGA	0.428													T	159021772	C	T	159021772	4	4	257	1	0	0	0	0	0	1	0	0	7511	644	23	1	1831	1	IFI16	1	159021772	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	352011	159021772	90228849	103	127035											
KCNJ10	3766	broad.mit.edu	37	chr1	160012305	160012305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctgactgtaatacacCttggcaactgacgtcatctg	10	10	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:160012305C>A	uc001fuw.1	-	2	168	c.18G>T	c.(16-18)AAG>AAT	p.K6N		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	6	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTAATACACCTTGGCAACTG	0.537													A	160012305	C	A	160012305	3	1	257	1	0	0	0	0	1	0	0	0	8044	680	24	5	1125	5	KCNJ10	1	160012305	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	990533	160012305	89238316	104	127036											
ATP1A2	477	broad.mit.edu	37	chr1	160098840	160098840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtctctgcaaccgcgcCgtcttcaaggcaggacagga	13	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:160098840C>T	uc001fvc.2	+	10	1419	c.1287C>T	c.(1285-1287)GCC>GCT	p.A429A	ATP1A2_uc001fvb.2_Silent_p.A429A|ATP1A2_uc001fvd.2_Silent_p.A165A|ATP1A2_uc009wtg.1_Silent_p.A117A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	429	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	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)			GCAACCGCGCCGTCTTCAAGG	0.582													T	160098840	C	T	160098840	2	4	257	1	0	0	0	0	0	0	0	1	1129	639	23	1		1	ATP1A2	1	160098840	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	86535	160098840	89151781	105	127037											
ATP1A4	480	broad.mit.edu	37	chr1	160125856	160125856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgagcatcgtactgTccgtcgtggtcatcgtcact	9	13	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:160125856T>C	uc001fve.3	+	4	912	c.433T>C	c.(433-435)TCC>CCC	p.S145P	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	145	Helical; (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCGTACTGTCCGTCGTGGT	0.502													C	160125856	T	C	160125856	3	2	257	1	0	0	0	0	1	0	0	0	1131	1667	58	3	447	3	ATP1A4	1	160125856	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	27016	160125856	89124765	106	127038											
ADAMTS4	9507	broad.mit.edu	37	chr1	161161324	161161324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtgggtggcccccgcGgggatagtgaccacattgtt	15	9	0	2	rs148326772		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:161161324G>A	uc001fyt.3	-	9	2546	c.2118C>T	c.(2116-2118)CCC>CCT	p.P706P		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	706	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCCCCCGCGGGGATAGTGA	0.577													A	161161324	G	A	161161324	2	1	257	1	0	0	0	0	0	0	0	1	268	1103	39	1		1	ADAMTS4	1	161161324	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1035468	161161324	88089297	107	127039											
FCGR2C	9103	broad.mit.edu	37	chr1	161569498	161569498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgaaacagctgacggcGgctacatgactctgaacccc	9	13	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:161569498G>A	uc001gav.2	+	8	976	c.877G>A	c.(877-879)GGC>AGC	p.G293S		NM_201563	NP_963857			Fc fragment of IgG, low affinity IIc, receptor												0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCTGACGGCGGCTACATGAC	0.269													A	161569498	G	A	161569498	3	1	257	1	0	0	0	0	1	0	0	0	5783	1116	39	1	903	1	FCGR2C	1	161569498	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	408174	161569498	87681123	108	127040											
OLFML2B	25903	broad.mit.edu	37	chr1	161967829	161967829	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggctgtgtgggccacAgtggtggctggtacctgagg	20	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:161967829A>C	uc001gbu.2	-	6	1684	c.1260T>G	c.(1258-1260)ACT>ACG	p.T420T	OLFML2B_uc010pkq.1_Silent_p.T421T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	420								p.T420I(1)		skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTGGGCCACAGTGGTGGCTG	0.607													C	161967829	A	C	161967829	2	2	257	1	0	0	0	0	0	0	0	1	10858	175	7	5		5	OLFML2B	1	161967829	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	398331	161967829	87282792	109	127041											
C1orf114	57821	broad.mit.edu	37	chr1	169364416	169364416	+	Frame_Shift_Del	DEL	T	T	-													gacagcttgttgctctgccaTtttttccatccgtttccttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:169364415_169364415AT>A	uc001gga.1	-	5	1568	c.1400_1400AT>T	c.(1399-1401)atgfs	p.M467fs	BLZF1_uc001gfy.3_Intron|C1orf114_uc001gfz.1_Frame_Shift_Del_p.M466fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.M466fs	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	467								p.M466fs*12(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTGCTCTGCCATTTTTTCCAT	0.408													-	169364416	T	-	169364416	7	5	257	1	0	1	0	1	0	0	0	0	1987	1493	52	0	134	0	C1orf114	1	169364416	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	7396587	169364416	79886205	110	127042											
F5	2153	broad.mit.edu	37	chr1	169513570	169513570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtcacagattctccacGcatggggaagagggtcaagg	14	10	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:169513570G>A	uc001ggg.1	-	12	2084	c.1939C>T	c.(1939-1941)CGT>TGT	p.R647C		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	647	Plastocyanin-like 4.|F5/8 type A 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GATTCTCCACGCATGGGGAAG	0.468													A	169513570	G	A	169513570	3	1	257	1	0	0	0	0	1	0	0	0	5348	1087	38	1	4791	1	F5	1	169513570	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	149154	169513570	79737051	111	127043											
C1orf129	80133	broad.mit.edu	37	chr1	170967433	170967433	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgagttttgtagactgTgaacagctgtgttctcattt	11	5	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:170967433T>C	uc001ghg.2	+	15	1744	c.1614T>C	c.(1612-1614)TGT>TGC	p.C538C	C1orf129_uc009wvy.2_Silent_p.C345C|C1orf129_uc010plz.1_Intron	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	538							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTAGACTGTGAACAGCTGT	0.383													C	170967433	T	C	170967433	2	2	257	1	0	0	0	0	0	0	0	1	1996	1702	59	3		3	C1orf129	1	170967433	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1453863	170967433	78283188	112	127044											
DARS2	55157	broad.mit.edu	37	chr1	173807354	173807354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggttgcccgatgttatcGagatgaaggttcaagaccag	12	8	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:173807354G>A	uc001gjh.1	+	9	1207	c.797G>A	c.(796-798)CGA>CAA	p.R266Q		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	266					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	CGATGTTATCGAGATGAAGGT	0.338													A	173807354	G	A	173807354	3	1	257	1	0	0	0	0	1	0	0	0	4242	1058	37	1	831	1	DARS2	1	173807354	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2839921	173807354	75443267	113	127045											
ABL2	27	broad.mit.edu	37	chr1	179077894	179077894	+	Frame_Shift_Del	DEL	T	T	-													ggagcagcactttcctctgaTttttttggaagcatgtcatt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:179077893_179077893AT>A	uc001gmj.4	-	11	2796	c.2509_2509AT>T	c.(2509-2511)tcafs	p.S837fs	ABL2_uc010pnf.2_Frame_Shift_Del_p.S734fs|ABL2_uc010png.2_Frame_Shift_Del_p.S713fs|ABL2_uc010pnh.2_Frame_Shift_Del_p.S816fs|ABL2_uc001gmg.4_Frame_Shift_Del_p.S719fs|ABL2_uc001gmi.4_Frame_Shift_Del_p.S822fs|ABL2_uc010pne.2_Frame_Shift_Del_p.S698fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	837	F-actin-binding (By similarity).				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)	CTTTCCTCTGATTTTTTTGGA	0.522			T	ETV6	AML								-	179077894	T	-	179077894	7	5	257	1	0	1	0	1	0	0	0	0	93	1490	52	0	1044	0	ABL2	1	179077894	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	5270540	179077894	70172727	114	127046											
ZNF648	127665	broad.mit.edu	37	chr1	182025570	182025570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcctctctccgttgtGcattcgtatgtgctgggcca	13	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:182025570G>A	uc001goz.2	-	2	1784	c.1576C>T	c.(1576-1578)CAC>TAC	p.H526Y		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	526	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTCCGTTGTGCATTCGTATG	0.617													A	182025570	G	A	182025570	3	1	257	1	0	0	0	0	1	0	0	0	18060	1319	46	2	134	2	ZNF648	1	182025570	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2947676	182025570	67225051	115	127047											
LAMC1	3915	broad.mit.edu	37	chr1	183090856	183090856	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcctcactatacacAggtgctggatatttggatga	8	8	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:183090856A>G	uc001gpy.3	+	12	2248	c.1991_splice	c.e12-2	p.S664_splice		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor						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			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTATACACAGGTGCTGGAT	0.473													G	183090856	A	G	183090856	5	3	257	1	0	0	0	0	0	0	1	0	8614	202	7	3	2035	3	LAMC1	1	183090856	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1065286	183090856	66159765	116	127048											
HMCN1	83872	broad.mit.edu	37	chr1	185704144	185704144	+	Frame_Shift_Del	DEL	T	T	-													gaaaagacctaaaagacctcTtttcaactttgcgttggtgc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:185704143_185704143CT>C	uc001grq.1	+	0	461	c.232_232CT>C	c.(232-234)cttfs	p.L78fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	78	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P77T(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						TAAAAGACCTCTTTTCAACTT	0.373													-	185704144	T	-	185704144	7	5	257	1	0	1	0	1	0	0	0	0	7220	1609	56	0	235	0	HMCN1	1	185704144	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	2613288	185704144	63546477	117	127049											
HMCN1	83872	broad.mit.edu	37	chr1	185963965	185963965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcctccaaagatacagcGtggacctaaacatctcaaag	7	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:185963965G>A	uc001grq.1	+	24	3753	c.3524G>A	c.(3523-3525)CGT>CAT	p.R1175H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1175	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAGATACAGCGTGGACCTAAA	0.393													A	185963965	G	A	185963965	3	1	257	1	0	0	0	0	1	0	0	0	7220	1145	40	1	3618	1	HMCN1	1	185963965	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	259821	185963965	63286656	118	127050											
CFH	3075	broad.mit.edu	37	chr1	196658606	196658606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatatcatgagaatatgCgtagaccatactttccagta	7	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:196658606C>T	uc001gtj.3	+	8	1261	c.1021C>T	c.(1021-1023)CGT>TGT	p.R341C	CFH_uc001gti.3_Missense_Mutation_p.R341C|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.R277C	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	341	Sushi 6.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGAGAATATGCGTAGACCATA	0.318													T	196658606	C	T	196658606	3	4	257	1	0	0	0	0	1	0	0	0	3283	768	27	1	1051	1	CFH	1	196658606	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	10694641	196658606	52592015	119	127051											
ASPM	259266	broad.mit.edu	37	chr1	197074096	197074096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccattttctgaacatagAttggattataagagttgatg	8	5	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:197074096A>G	uc001gtu.2	-	18	4542	c.4285T>C	c.(4285-4287)TCT>CCT	p.S1429P	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1429					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTGAACATAGATTGGATTATA	0.328													G	197074096	A	G	197074096	3	3	257	1	0	0	0	0	1	0	0	0	1056	333	12	3	6192	3	ASPM	1	197074096	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	415490	197074096	52176525	120	127052											
CRB1	23418	broad.mit.edu	37	chr1	197390635	197390635	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcttctgttcatttcCcacaacaccagcgatggaga	9	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:197390635C>A	uc001gtz.2	+	6	1812	c.1677C>A	c.(1675-1677)TCC>TCA	p.S559S	CRB1_uc010poz.1_Silent_p.S490S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.S447S|CRB1_uc010ppb.1_Silent_p.S559S|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.S40S|CRB1_uc001gub.1_Silent_p.S208S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	559	Extracellular (Potential).|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			ovary(5)|skin(3)|large_intestine(1)	9						TGTTCATTTCCCACAACACCA	0.458													A	197390635	C	A	197390635	2	1	257	1	0	0	0	0	0	0	0	1	3848	610	22	5		5	CRB1	1	197390635	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	316539	197390635	51859986	121	127053											
KIF21B	23046	broad.mit.edu	37	chr1	200944729	200944729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagacactcgatgccatcGtagtgcgggggctcgaagtt	15	10	0	1	rs139284658		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:200944729G>A	uc001gvs.1	-	33	4829	c.4512C>T	c.(4510-4512)TAC>TAT	p.Y1504Y	KIF21B_uc001gvr.1_Silent_p.Y1491Y|KIF21B_uc009wzl.1_Silent_p.Y1504Y|KIF21B_uc010ppn.1_Silent_p.Y1491Y	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1504	WD 5.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CGATGCCATCGTAGTGCGGGG	0.612													A	200944729	G	A	200944729	2	1	257	1	0	0	0	0	0	0	0	1	8289	1140	40	1		1	KIF21B	1	200944729	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3554094	200944729	48305892	122	127054											
NAV1	89796	broad.mit.edu	37	chr1	201781709	201781709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaaggaagagctgcttcGggtgctcgactgggtaccca	13	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:201781709G>A	uc001gwu.2	+	26	5479	c.5132G>A	c.(5131-5133)CGG>CAG	p.R1711Q	NAV1_uc001gwx.2_Missense_Mutation_p.R1320Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1714					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GAGCTGCTTCGGGTGCTCGAC	0.552													A	201781709	G	A	201781709	3	1	257	1	0	0	0	0	1	0	0	0	10183	1116	39	1	5304	1	NAV1	1	201781709	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	836980	201781709	47468912	123	127055											
IPO9	55705	broad.mit.edu	37	chr1	201827606	201827606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttccagaatgaaagtgCagcagccctggctgctgcag	12	10	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:201827606C>T	uc001gwz.2	+	12	1303	c.1253C>T	c.(1252-1254)GCA>GTA	p.A418V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	418					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						AATGAAAGTGCAGCAGCCCTG	0.448													T	201827606	C	T	201827606	3	4	257	1	0	0	0	0	1	0	0	0	7799	710	25	2	1299	2	IPO9	1	201827606	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	45897	201827606	47423015	124	127056											
PTPN7	5778	broad.mit.edu	37	chr1	202119538	202119538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgatgaagcagcccgtcCggccaatccctgcactggag	13	14	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:202119538C>T	uc001gxm.1	-	9	1021	c.890G>A	c.(889-891)CGG>CAG	p.R297Q	PTPN7_uc001gxl.1_Missense_Mutation_p.R336Q|PTPN7_uc001gxn.1_Missense_Mutation_p.R297Q|PTPN7_uc010ppv.1_Missense_Mutation_p.R116Q|PTPN7_uc010ppw.1_Missense_Mutation_p.R245Q|PTPN7_uc010ppx.1_Missense_Mutation_p.R371Q|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_Missense_Mutation_p.R249Q	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	297	Substrate binding.|Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						GCAGCCCGTCCGGCCAATCCC	0.572													T	202119538	C	T	202119538	3	4	257	1	0	0	0	0	1	0	0	0	12793	652	23	1	200	1	PTPN7	1	202119538	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	291932	202119538	47131083	125	127057											
KLHL12	59349	broad.mit.edu	37	chr1	202880242	202880242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggcatccgcacatactgTagcaggttaggcaaggattc	13	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:202880242T>C	uc001gyo.1	-	5	857	c.657A>G	c.(655-657)CTA>CTG	p.L219L	KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Silent_p.L69L|KLHL12_uc010pqc.1_Silent_p.L257L|KLHL12_uc009xah.1_Silent_p.L219L	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	219					Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACATACTGTAGCAGGTTAG	0.478													C	202880242	T	C	202880242	2	2	257	1	0	0	0	0	0	0	0	1	8368	1625	57	3		3	KLHL12	1	202880242	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	760704	202880242	46370379	126	127058											
MYOG	4656	broad.mit.edu	37	chr1	203054644	203054644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggcccgcccccgcccCggtagcggaggtcacgctcc	15	19	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:203054644C>T	uc001gzd.2	-	1	734	c.446G>A	c.(445-447)CGG>CAG	p.R149Q		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	149					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GCCCCCGCCCCGGTAGCGGAG	0.697													T	203054644	C	T	203054644	3	4	257	1	0	0	0	0	1	0	0	0	10090	652	23	1	240	1	MYOG	1	203054644	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	174402	203054644	46195977	127	127059											
PRELP	5549	broad.mit.edu	37	chr1	203455842	203455842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttccgtagaaatcaacGgaacccagatttgccccaac	6	13	1	2	rs147252422		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:203455842G>A	uc001gzs.2	+	3	1182	c.982G>A	c.(982-984)GGA>AGA	p.G328R	PRELP_uc001gzt.2_Missense_Mutation_p.G328R	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	328	LRR 11.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAATCAACGGAACCCAGAT	0.562													A	203455842	G	A	203455842	3	1	257	1	0	0	0	0	1	0	0	0	12473	1117	39	1	988	1	PRELP	1	203455842	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	401198	203455842	45794779	128	127060											
SOX13	9580	broad.mit.edu	37	chr1	204091508	204091508	+	Frame_Shift_Del	DEL	C	C	-													acgcgggacctgcagtccagCcccccgagcctgcctctggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:204091508delC	uc001ham.2	+	9	1600	c.1005delC	c.(1003-1005)AGCfs	p.S335fs	SOX13_uc010pqp.1_Frame_Shift_Del_p.S334fs|SOX13_uc010pqq.1_Frame_Shift_Del_p.S202fs	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	335	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGTCCAGCCCCCCGAGCC	0.622													-	204091508	C	-	204091508	7	5	257	1	0	1	0	1	0	0	0	0	14944	738	26	0	1035	0	SOX13	1	204091508	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	635666	204091508	45159113	129	127061											
CR2	1380	broad.mit.edu	37	chr1	207648182	207648182	+	Frame_Shift_Del	DEL	C	C	-													tctgcagttattcactgtcaCcctccaccagtgattgtcaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:207648181_207648181AC>A	uc001hfw.3	+	12	2278	c.2159_2159AC>A	c.(2158-2160)cacfs	p.H720fs	CR2_uc001hfv.3_Frame_Shift_Del_p.H779fs|CR2_uc009xch.3_Frame_Shift_Del_p.H720fs	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	720	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTCACTGTCACCCTCCACCA	0.423													-	207648182	C	-	207648182	7	5	257	1	0	1	0	1	0	0	0	0	3842	506	18	0	2391	0	CR2	1	207648182	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	3556674	207648182	41602439	130	127062											
CD34	947	broad.mit.edu	37	chr1	208073210	208073210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgttgagacacagggTgcaggctggtacttccaagg	14	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:208073210T>C	uc001hgw.1	-	2	476	c.218A>G	c.(217-219)CAC>CGC	p.H73R	CD34_uc001hgx.1_Missense_Mutation_p.H73R|CD34_uc010psj.1_Missense_Mutation_p.T23A	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	73	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						AGACACAGGGTGCAGGCTGGT	0.458													C	208073210	T	C	208073210	3	2	257	1	0	0	0	0	1	0	0	0	3006	1696	59	3	986	3	CD34	1	208073210	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	425028	208073210	41177411	131	127063											
PLXNA2	5362	broad.mit.edu	37	chr1	208391092	208391092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacatagacggcccccGtcccttggtggacggtcaag	11	17	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:208391092G>A	uc001hgz.2	-	2	934	c.176C>T	c.(175-177)ACG>ATG	p.T59M	PLXNA2_uc001hha.3_Missense_Mutation_p.T113M	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	59	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACGGCCCCCGTCCCTTGGTG	0.597													A	208391092	G	A	208391092	3	1	257	1	0	0	0	0	1	0	0	0	12120	1145	40	1	5632	1	PLXNA2	1	208391092	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	317882	208391092	40859529	132	127064											
KCNH1	3756	broad.mit.edu	37	chr1	210948744	210948744	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagaaggaatgggagaaGgccgtgtagaattccagcac	16	7	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:210948744G>T	uc001hib.2	-	10	2228	c.2058C>A	c.(2056-2058)GCC>GCA	p.A686A	KCNH1_uc001hic.2_Silent_p.A659A	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	686	Cytoplasmic (Potential).|cNMP.|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			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATGGGAGAAGGCCGTGTAGA	0.493													T	210948744	G	T	210948744	2	4	257	1	0	0	0	0	0	0	0	1	8031	987	35	5		5	KCNH1	1	210948744	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2557652	210948744	38301877	133	127065											
RCOR3	55758	broad.mit.edu	37	chr1	211447588	211447588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgcaaaggaaaagcatgGctacaatgtggaacaggtat	11	5	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:211447588G>A	uc001hig.2	+	3	333	c.164G>A	c.(163-165)GGC>GAC	p.G55D	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G113D|RCOR3_uc010psw.1_Missense_Mutation_p.G113D|RCOR3_uc001hif.2_Missense_Mutation_p.G113D	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	55	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GAAAAGCATGGCTACAATGTG	0.323													A	211447588	G	A	211447588	3	1	257	1	0	0	0	0	1	0	0	0	13184	1203	42	2	352	2	RCOR3	1	211447588	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	498844	211447588	37803033	134	127066											
RCOR3	55758	broad.mit.edu	37	chr1	211469067	211469067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaaacagaaaatggaagGtggaattgaagaattcaaac	9	4	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:211469067G>A	uc001hig.2	+	8	984	c.815G>A	c.(814-816)GGT>GAT	p.G272D	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G330D|RCOR3_uc010psw.1_Missense_Mutation_p.G330D|RCOR3_uc001hif.2_Missense_Mutation_p.G330D	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	272	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AAAATGGAAGGTGGAATTGAA	0.348													A	211469067	G	A	211469067	3	1	257	1	0	0	0	0	1	0	0	0	13184	1261	44	4	1023	4	RCOR3	1	211469067	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	21479	211469067	37781554	135	127067											
PTPN14	5784	broad.mit.edu	37	chr1	214557534	214557534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcttaagcatgtgggccGtgctgtagttatggctgccc	13	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:214557534G>A	uc001hkk.1	-	13	1935	c.1664C>T	c.(1663-1665)ACG>ATG	p.T555M	PTPN14_uc010pty.1_Missense_Mutation_p.T456M	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	555					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637													A	214557534	G	A	214557534	3	1	257	1	0	0	0	0	1	0	0	0	12783	1145	40	1	1927	1	PTPN14	1	214557534	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3088467	214557534	34693087	136	127068											
HHIPL2	79802	broad.mit.edu	37	chr1	222713546	222713546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacaacgccacatgttcCtgatcccataggcatagatg	8	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:222713546C>T	uc001hnh.1	-	4	1314	c.1256G>A	c.(1255-1257)AGG>AAG	p.R419K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	419					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CCACATGTTCCTGATCCCATA	0.612													T	222713546	C	T	222713546	3	4	257	1	0	0	0	0	1	0	0	0	7094	681	24	4	942	4	HHIPL2	1	222713546	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8156012	222713546	26537075	137	127069											
DISP1	84976	broad.mit.edu	37	chr1	223177682	223177682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccaggatagcctctcCgatggcaccctcattgccat	8	16	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:223177682C>T	uc001hnu.1	+	8	3090	c.2943C>T	c.(2941-2943)TCC>TCT	p.S981S		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	981					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		ATAGCCTCTCCGATGGCACCC	0.502													T	223177682	C	T	223177682	2	4	257	1	0	0	0	0	0	0	0	1	4539	639	23	1		1	DISP1	1	223177682	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	464136	223177682	26072939	138	127070											
CAPN2	824	broad.mit.edu	37	chr1	223947077	223947077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgggaggtgctcaaccgcTtcaagctgccgccaggagag	14	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:223947077T>C	uc001hob.3	+	12	1647	c.1423T>C	c.(1423-1425)TTC>CTC	p.F475L	CAPN2_uc010puy.1_Missense_Mutation_p.F397L|CAPN2_uc001hoc.2_Missense_Mutation_p.F56L	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	475	Domain III.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		GCTCAACCGCTTCAAGCTGCC	0.542													C	223947077	T	C	223947077	3	2	257	1	0	0	0	0	1	0	0	0	2627	1609	56	3	1476	3	CAPN2	1	223947077	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	769395	223947077	25303544	139	127071											
LBR	3930	broad.mit.edu	37	chr1	225592337	225592337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatacttacgtgcaagctTtggatcactgggatttttcc	8	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:225592337T>C	uc001hoy.2	-	12	1698	c.1555A>G	c.(1555-1557)AAG>GAG	p.K519E	LBR_uc001hoz.2_Missense_Mutation_p.K519E	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	519					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CGTGCAAGCTTTGGATCACTG	0.279													C	225592337	T	C	225592337	3	2	257	1	0	0	0	0	1	0	0	0	8652	1850	64	3	304	3	LBR	1	225592337	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1645260	225592337	23658284	140	127072											
LIN9	286826	broad.mit.edu	37	chr1	226420811	226420811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattacctgatattagaagcGtctattgtactcttgatatc	6	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:226420811G>A	uc001hqa.2	-	14	1867	c.1557C>T	c.(1555-1557)GAC>GAT	p.D519D	LIN9_uc001hqb.2_Silent_p.D484D|LIN9_uc001hqc.2_Silent_p.D451D|LIN9_uc009xel.1_Silent_p.D484D	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	503					cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TATTAGAAGCGTCTATTGTAC	0.313													A	226420811	G	A	226420811	2	1	257	1	0	0	0	0	0	0	0	1	8813	1136	40	1		1	LIN9	1	226420811	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	828474	226420811	22829810	141	127073											
CDC42BPA	8476	broad.mit.edu	37	chr1	227259974	227259976	+	In_Frame_Del	DEL	TTC	TTC	-													tttctgagagtagttccaagTtcttcttctctgaatctttt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:227259973_227259975GTTC>G	uc001hqr.3	-	19	3704_3706	c.2761_2763GAAC>C	c.(2761-2763)aac>C	p.N921del	CDC42BPA_uc001hqq.3_In_Frame_Del_p.N185del|CDC42BPA_uc001hqs.3_In_Frame_Del_p.N840del|CDC42BPA_uc009xes.3_In_Frame_Del_p.N921del|CDC42BPA_uc010pvs.2_In_Frame_Del_p.N921del|CDC42BPA_uc001hqp.3_In_Frame_Del_p.N77del|CDC42BPA_uc001hqu.1_In_Frame_Del_p.N77del	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	921					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)				GTAGTTCCAAGTTCTTCTTCTCT	0.374													-	227259976	TTC	-	227259974	7	5	257	1	0	1	0	1	0	0	0	0	3072	1725	60	0	2465	0	CDC42BPA	1	227259974	In_Frame_Del	DEL	TTC	TCGA-HU-8602-01A-11D-2394-08	839163	227259974	21990647	142	127074											
OBSCN	84033	broad.mit.edu	37	chr1	228437869	228437869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtggtgcagcaggcaTgccaggcggacaccggggag	20	10	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228437869T>C	uc009xez.1	+	14	4281	c.4237T>C	c.(4237-4239)TGC>CGC	p.C1413R	OBSCN_uc001hsn.2_Missense_Mutation_p.C1413R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1413	Ig-like 14.			C -> G (in Ref. 1; CAC85746/CAC85749).	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCAGCAGGCATGCCAGGCGGA	0.647													C	228437869	T	C	228437869	3	2	257	1	0	0	0	0	1	0	0	0	10812	1464	51	3	4287	3	OBSCN	1	228437869	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1177895	228437869	20812752	143	127075											
OBSCN	84033	broad.mit.edu	37	chr1	228525668	228525668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacatctacgtggtcacCgctgactacctgcccctagg	9	14	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228525668C>T	uc009xez.1	+	67	16868	c.16824C>T	c.(16822-16824)ACC>ACT	p.T5608T	OBSCN_uc001hsn.2_Silent_p.T5608T|OBSCN_uc001hsr.1_Silent_p.T236T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5608	SH3.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACGTGGTCACCGCTGACTACC	0.632													T	228525668	C	T	228525668	2	4	257	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228525668	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	87799	228525668	20724953	144	127076											
OBSCN	84033	broad.mit.edu	37	chr1	228527685	228527685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcgacacggacgacgaCgtggccatgtgcttcatcaa	12	12	2	0	rs142093978	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228527685C>T	uc009xez.1	+	70	17342	c.17298C>T	c.(17296-17298)GAC>GAT	p.D5766D	OBSCN_uc001hsn.2_Silent_p.D5766D|OBSCN_uc001hsr.1_Silent_p.D395D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5766	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGGACGACGACGTGGCCATGT	0.637													T	228527685	C	T	228527685	2	4	257	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228527685	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2017	228527685	20722936	145	127077											
OBSCN	84033	broad.mit.edu	37	chr1	228562316	228562318	+	In_Frame_Del	DEL	TCC	TCC	-													cctggagagcagcagccgtgTcctcatctctgccaccctca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228562315_228562317GTCC>G	uc009xez.1	+	96	22569_22571	c.22525_22527GTCC>G	c.(22525-22527)gtc>G	p.V7509del	OBSCN_uc001hsr.1_In_Frame_Del_p.V2138del	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7509	Ig-like 55.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CAGCAGCCGTGTCCTCATCTCTG	0.611													-	228562318	TCC	-	228562316	7	5	257	1	0	1	0	1	0	0	0	0	10812	1667	58	0	24118	0	OBSCN	1	228562316	In_Frame_Del	DEL	TCC	TCGA-HU-8602-01A-11D-2394-08	34631	228562316	20688305	146	127078											
URB2	9816	broad.mit.edu	37	chr1	229771402	229771402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagcagagcaaagccCtgtccacatcagattggacc	12	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:229771402C>A	uc001hts.1	+	4	1178	c.1042C>A	c.(1042-1044)CTG>ATG	p.L348M	URB2_uc009xfd.1_Missense_Mutation_p.L348M	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	348						nucleolus				central_nervous_system(2)|ovary(1)	3						GAGCAAAGCCCTGTCCACATC	0.488													A	229771402	C	A	229771402	3	1	257	1	0	0	0	0	1	0	0	0	17022	680	24	5	1052	5	URB2	1	229771402	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1209086	229771402	19479219	147	127079											
CAPN9	10753	broad.mit.edu	37	chr1	230903351	230903351	+	Frame_Shift_Del	DEL	G	G	-													aggccatggaagacttcactGggggtgtggcagagaccttc					rs3828126	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:230903350_230903350TG>T	uc001htz.1	+	4	713	c.600_600TG>T	c.(598-600)actfs	p.T200fs	CAPN9_uc009xfg.1_Frame_Shift_Del_p.T137fs|CAPN9_uc001hua.1_Frame_Shift_Del_p.T200fs	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	200	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AAGACTTCACTGGGGGTGTGG	0.552													-	230903351	G	-	230903351	7	5	257	1	0	1	0	1	0	0	0	0	2632	1348	47	0	619	0	CAPN9	1	230903351	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1131949	230903351	18347270	148	127080											
HEATR1	55127	broad.mit.edu	37	chr1	236737616	236737616	+	Frame_Shift_Del	DEL	A	A	-													ttttcatctgatatggctgcAaaaaatggttttgtaatcta							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:236737615_236737615CA>C	uc001hyd.2	-	23	3498	c.3346_3346TG>G	c.(3346-3348)gcafs	p.A1116fs	HEATR1_uc009xgh.2_Frame_Shift_Del_p.A278fs	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1116					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)			GATATGGCTGCAAAAAATGGT	0.343													-	236737616	A	-	236737616	7	5	257	1	0	1	0	1	0	0	0	0	7027	127	5	0	3177	0	HEATR1	1	236737616	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	5834265	236737616	12513005	149	127081											
HEATR1	55127	broad.mit.edu	37	chr1	236760162	236760162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatagggaaatagtttggCgatgatattgtctgatacgt	12	3	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:236760162C>T	uc001hyd.1	-	6	843	c.718G>A	c.(718-720)GCC>ACC	p.A240T		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	240					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AATAGTTTGGCGATGATATTG	0.433													T	236760162	C	T	236760162	3	4	257	1	0	0	0	0	1	0	0	0	7027	768	27	1	5876	1	HEATR1	1	236760162	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	22546	236760162	12490459	150	127082											
FMN2	56776	broad.mit.edu	37	chr1	240371409	240371409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgggcataccccctccGccccctctacccggagtggg	13	18	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:240371409G>A	uc010pyd.1	+	5	3522	c.3297G>A	c.(3295-3297)CCG>CCA	p.P1099P	FMN2_uc010pye.1_Silent_p.P1103P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1099	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTAC	0.731													A	240371409	G	A	240371409	2	1	257	1	0	0	0	0	0	0	0	1	5950	1074	38	1		1	FMN2	1	240371409	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3611247	240371409	8879212	151	127083											
FMN2	56776	broad.mit.edu	37	chr1	240601495	240601495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagaaagagaacaaacTtcttctacaagagaggtagg	11	6	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:240601495T>G	uc010pyd.1	+	16	5270	c.5045T>G	c.(5044-5046)CTT>CGT	p.L1682R	FMN2_uc010pye.1_Missense_Mutation_p.L1686R|FMN2_uc010pyg.1_Missense_Mutation_p.L278R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1682	Potential.|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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGAACAAACTTCTTCTACAA	0.408													G	240601495	T	G	240601495	3	3	257	1	0	0	0	0	1	0	0	0	5950	1609	56	5	5107	5	FMN2	1	240601495	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	230086	240601495	8649126	152	127084											
EXO1	9156	broad.mit.edu	37	chr1	242042268	242042269	+	Frame_Shift_Del	DEL	AC	AC	-													atcatattccagacaaggcaAcagtgtttacagatgaagag					rs138859903		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:242042267_242042268AAC>A	uc021plj.1	+	10	2045_2046	c.1731_1732AAC>A	c.(1729-1734)gcaacafs	p.A577fs	EXO1_uc001hzh.3_Frame_Shift_Del_p.A577fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.A576fs|EXO1_uc021plk.1_Frame_Shift_Del_p.A577fs	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	577					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAGACAAGGCAACAGTGTTTAC	0.406								Editing and processing nucleases					-	242042269	AC	-	242042268	7	5	257	1	0	1	0	1	0	0	0	0	5300	43	2	0	1770	0	EXO1	1	242042268	Frame_Shift_Del	DEL	AC	TCGA-HU-8602-01A-11D-2394-08	1440773	242042268	7208353	153	127085											
ZNF238	10472	broad.mit.edu	37	chr1	244218133	244218133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaccccagagagcgagCgtgtccaggtggagggaggc	18	9	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:244218133C>T	uc001iae.2	+	1	1552	c.1030C>T	c.(1030-1032)CGT>TGT	p.R344C	ZNF238_uc001iad.3_Missense_Mutation_p.R353C|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	344	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			AGAGAGCGAGCGTGTCCAGGT	0.627													T	244218133	C	T	244218133	3	4	257	1	0	0	0	0	1	0	0	0	17787	768	27	1	1063	1	ZNF238	1	244218133	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2175865	244218133	5032488	154	127086											
KIF26B	55083	broad.mit.edu	37	chr1	245704240	245704240	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggtgaaggacaccccGgggctgggcaaggtaggacc	16	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:245704240G>T	uc001ibf.1	+	5	1778	c.1338G>T	c.(1336-1338)CCG>CCT	p.P446P	KIF26B_uc010pyq.1_Silent_p.P446P|KIF26B_uc001ibg.1_Silent_p.P64P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	446					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			AGGACACCCCGGGGCTGGGCA	0.597													T	245704240	G	T	245704240	2	4	257	1	0	0	0	0	0	0	0	1	8295	1103	39	5		5	KIF26B	1	245704240	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1486107	245704240	3546381	155	127087											
TPO	7173	broad.mit.edu	37	chr2	1418179	1418179	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctccttccgttaattttaGaatgagagcgctcgctgtgc	10	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:1418179G>T	uc002qww.2	+	2	91	c.0_splice	c.e2-1		TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Splice_Site|TPO_uc002qwu.2_Splice_Site|TPO_uc002qwr.2_Splice_Site|TPO_uc002qwx.2_Splice_Site|TPO_uc010yio.1_5'Flank|TPO_uc010yip.1_5'Flank	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a						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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	GTTAATTTTAGAATGAGAGCG	0.532													T	1418179	G	T	1418179	5	4	257	1	0	0	0	0	0	0	1	0	16407	956	33	5	1	5	TPO	2	1418179	Splice_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08		1418179	241781194	156	127088											
MYT1L	23040	broad.mit.edu	37	chr2	1890322	1890322	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatcttacttgagttcttgGgagctggtggccagcatact	11	8	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:1890322G>T	uc002qxe.2	-	18	3527	c.2700C>A	c.(2698-2700)TCC>TCA	p.S900S	MYT1L_uc002qxd.2_Silent_p.S898S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	900					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		TGAGTTCTTGGGAGCTGGTGG	0.433													T	1890322	G	T	1890322	2	4	257	1	0	0	0	0	0	0	0	1	10107	1219	43	5		5	MYT1L	2	1890322	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	472143	1890322	241309051	157	127089											
COLEC11	78989	broad.mit.edu	37	chr2	3691067	3691067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagccagctgcgcaaggCcatcggggagatggacaacc	15	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:3691067C>A	uc002qya.2	+	6	510	c.362C>A	c.(361-363)GCC>GAC	p.A121D	COLEC11_uc002qxz.2_Missense_Mutation_p.A118D|COLEC11_uc002qyb.2_Missense_Mutation_p.A97D|COLEC11_uc002qyc.2_Missense_Mutation_p.A97D|COLEC11_uc010ewo.2_Missense_Mutation_p.A73D|COLEC11_uc010ewp.2_Missense_Mutation_p.A95D|COLEC11_uc010ewq.2_Missense_Mutation_p.A71D|COLEC11_uc010ewr.2_Missense_Mutation_p.A71D|COLEC11_uc010ews.2_Missense_Mutation_p.A47D	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	121	Potential.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTGCGCAAGGCCATCGGGGAG	0.637													A	3691067	C	A	3691067	3	1	257	1	0	0	0	0	1	0	0	0	3711	739	26	5	463	5	COLEC11	2	3691067	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1800745	3691067	239508306	158	127090											
NBAS	51594	broad.mit.edu	37	chr2	15415814	15415814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagagcttggggaaagcaTctgtccatccttttcaggga	12	9	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:15415814T>C	uc002rcc.1	-	44	5544	c.5518A>G	c.(5518-5520)ATG>GTG	p.M1840V	NBAS_uc010exl.1_Missense_Mutation_p.M912V|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1840										ovary(2)|liver(1)|skin(1)	4						GGGGAAAGCATCTGTCCATCC	0.443													C	15415814	T	C	15415814	3	2	257	1	0	0	0	0	1	0	0	0	10186	1435	50	3	1633	3	NBAS	2	15415814	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	11724747	15415814	227783559	159	127091											
NBAS	51594	broad.mit.edu	37	chr2	15601418	15601418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggaagcaggtcggaaCcatggtaagtaaacagaatt	13	5	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:15601418C>T	uc002rcc.1	-	21	2272	c.2246G>A	c.(2245-2247)GGT>GAT	p.G749D	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	749										ovary(2)|liver(1)|skin(1)	4						CAGGTCGGAACCATGGTAAGT	0.418													T	15601418	C	T	15601418	3	4	257	1	0	0	0	0	1	0	0	0	10186	507	18	4	4997	4	NBAS	2	15601418	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	185604	15601418	227597955	160	127092											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698684	17698684	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtattttggctactgagTgatgggtagtcattttcata	10	5	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:17698684T>C	uc002rcl.1	-	1	1023	c.999A>G	c.(997-999)TCA>TCG	p.S333S	RAD51AP2_uc010exn.1_Silent_p.S324S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	333										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTACTGAGTGATGGGTAGT	0.323													C	17698684	T	C	17698684	2	2	257	1	0	0	0	0	0	0	0	1	12987	1683	59	3		3	RAD51AP2	2	17698684	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2097266	17698684	225500689	161	127093											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-													aatgttttccgcttctacagTttttttatcattctgtaact							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:17698736_17698736GT>G	uc002rcl.1	-	0	971	c.947_947AC>C	c.(946-948)actfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATC	0.328													-	17698737	T	-	17698737	7	5	257	1	0	1	0	1	0	0	0	0	12987	1725	60	0	2545	0	RAD51AP2	2	17698737	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	53	17698737	225500636	162	127094											
OSR1	130497	broad.mit.edu	37	chr2	19552979	19552979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggccgctcgtcggtgtgCgtccgctcatggataagtag	15	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:19552979C>T	uc002rdc.2	-	2	891	c.588G>A	c.(586-588)ACG>ACA	p.T196T		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	196	C2H2-type 1.				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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CGTCGGTGTGCGTCCGCTCAT	0.592													T	19552979	C	T	19552979	2	4	257	1	0	0	0	0	0	0	0	1	11293	755	27	1		1	OSR1	2	19552979	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1854242	19552979	223646394	163	127095											
NCOA1	8648	broad.mit.edu	37	chr2	24991211	24991211	+	Frame_Shift_Del	DEL	C	C	-													gcccacgtcaggaccacagaCcccccaggcccagcagaaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:24991210_24991210AC>A	uc002rfk.3	+	20	4535	c.4276_4276AC>A	c.(4276-4278)accfs	p.T1426fs	NCOA1_uc010eye.3_3'UTR|NCOA1_uc002rfi.3_3'UTR|NCOA1_uc002rfj.3_3'UTR|NCOA1_uc002rfl.3_Frame_Shift_Del_p.T1425fs|NCOA1_uc010eyf.3_3'UTR	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1426									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)					AGGACCACAGACCCCCCAGGC	0.493			T	PAX3	alveolar rhadomyosarcoma								-	24991211	C	-	24991211	7	5	257	1	0	1	0	1	0	0	0	0	10228	507	18	0	4400	0	NCOA1	2	24991211	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	5438232	24991211	218208162	164	127096											
C2orf39	92749	broad.mit.edu	37	chr2	26671649	26671649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactaccaagaggatccTgatgctcctgtgtgacgagt	10	9	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26671649T>C	uc002rhg.2	+	11	1561	c.1487T>C	c.(1486-1488)CTG>CCG	p.L496P		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	496											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGGATCCTGATGCTCCTG	0.597													C	26671649	T	C	26671649	3	2	257	1	0	0	0	0	1	0	0	0	2164	1580	55	3	1529	3	C2orf39	2	26671649	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1680438	26671649	216527724	165	127097											
OTOF	9381	broad.mit.edu	37	chr2	26683839	26683839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggtggccatctccatggTgcactgcttggctgtctttg	12	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26683839T>C	uc002rhk.2	-	44	5720	c.5593A>G	c.(5593-5595)ACC>GCC	p.T1865A	OTOF_uc010yla.1_Missense_Mutation_p.T595A|OTOF_uc002rhh.2_Missense_Mutation_p.T1098A|OTOF_uc002rhi.2_Missense_Mutation_p.T1175A|OTOF_uc002rhj.2_Missense_Mutation_p.T1098A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1865	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCATGGTGCACTGCTTG	0.632													C	26683839	T	C	26683839	3	2	257	1	0	0	0	0	1	0	0	0	11303	1696	59	3	597	3	OTOF	2	26683839	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	12190	26683839	216515534	166	127098											
OTOF	9381	broad.mit.edu	37	chr2	26693574	26693574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcttcttcttcttcttctCcttctcctcctcagcctgca	2	18	8	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26693574C>T	uc002rhk.2	-	32	4037	c.3910G>A	c.(3910-3912)GAG>AAG	p.E1304K	OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1304	Cytoplasmic (Potential).|Poly-Lys.				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ttcttcttctccttctcctcc	0.512													T	26693574	C	T	26693574	3	4	257	1	0	0	0	0	1	0	0	0	11303	864	30	4	2328	4	OTOF	2	26693574	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	9735	26693574	216505799	167	127099											
OTOF	9381	broad.mit.edu	37	chr2	26696067	26696067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgtcgcagggagctgacGgcatgggagcccaccagtgt	16	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26696067G>A	uc002rhk.2	-	29	3793	c.3666C>T	c.(3664-3666)GCC>GCT	p.A1222A	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Silent_p.A475A|OTOF_uc002rhi.2_Silent_p.A532A|OTOF_uc002rhj.2_Silent_p.A475A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1222	Cytoplasmic (Potential).				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGCTGACGGCATGGGAGC	0.672													A	26696067	G	A	26696067	2	1	257	1	0	0	0	0	0	0	0	1	11303	1103	39	1		1	OTOF	2	26696067	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2493	26696067	216503306	168	127100											
MAPRE3	22924	broad.mit.edu	37	chr2	27248517	27248518	+	Frame_Shift_Ins	INS	-	-	C													ggccggctgagcaatgtggcINSccccccctgcattctccgga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27248516_27248517G>GC	uc002rhw.3	+	4	688_689	c.535_536G>GC	c.(535-537)gccfs	p.A179fs		NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA.	179					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564													C	27248518	-	C	27248517	7	5	257	1	0	1	1	0	0	0	0	0	9296	739	26	0	550	0	MAPRE3	2	27248517	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	552450	27248517	215950856	169	127101											
C2orf53	339779	broad.mit.edu	37	chr2	27361028	27361028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggggaggagggacgaCgggactgagtggaagagaac	22	4	0	2	rs149337790		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27361028C>T	uc002rjb.2	-	3	750	c.170G>A	c.(169-171)CGT>CAT	p.R57H		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	57	Pro-rich.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGGACGACGGGACTGAGT	0.562													T	27361028	C	T	27361028	3	4	257	1	0	0	0	0	1	0	0	0	2174	536	19	1	1072	1	C2orf53	2	27361028	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	112511	27361028	215838345	170	127102											
CAD	790	broad.mit.edu	37	chr2	27459279	27459279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcaatgcgtggagctgGgggccggcgtctctcttcct	14	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27459279G>T	uc002rji.2	+	26	4364	c.4202G>T	c.(4201-4203)GGG>GTG	p.G1401V	CAD_uc010eyw.2_Missense_Mutation_p.G1338V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1401	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGTGGAGCTGGGGGCCGGCGT	0.572													T	27459279	G	T	27459279	3	4	257	1	0	0	0	0	1	0	0	0	2565	1232	43	5	4304	5	CAD	2	27459279	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	98251	27459279	215740094	171	127103											
UCN	7349	broad.mit.edu	37	chr2	27530432	27530432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcggttctgctcggcgCgctcccgctggctctgcgtc	14	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27530432C>T	uc002rjp.1	-	2	448	c.332G>A	c.(331-333)CGC>CAC	p.R111H		NM_003353	NP_003344	P55089	UCN1_HUMAN	urocortin preproprotein	111						extracellular region	neuropeptide hormone activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTCGGCGCGCTCCCGCTG	0.652													T	27530432	C	T	27530432	3	4	257	1	0	0	0	0	1	0	0	0	16924	768	27	1	46	1	UCN	2	27530432	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	71153	27530432	215668941	172	127104											
IFT172	26160	broad.mit.edu	37	chr2	27684208	27684208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgttggctagcagttcCtctcgggtcagcaccagccg	12	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27684208C>A	uc002rku.2	-	22	2421	c.2370G>T	c.(2368-2370)GAG>GAT	p.E790D		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	790					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTAGCAGTTCCTCTCGGGTCA	0.562													A	27684208	C	A	27684208	3	1	257	1	0	0	0	0	1	0	0	0	7557	680	24	5	2987	5	IFT172	2	27684208	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	153776	27684208	215515165	173	127105											
SPDYA	245711	broad.mit.edu	37	chr2	29052084	29052084	+	Frame_Shift_Del	DEL	A	A	-													tttttccatgggctttagggAaaaactggagaaaattgttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:29052084delA	uc002rmj.2	+	6	657	c.451delA	c.(451-453)AAAfs	p.K151fs	SPDYA_uc002rmi.2_Frame_Shift_Del_p.K151fs|SPDYA_uc002rmk.2_Frame_Shift_Del_p.K151fs|SPDYA_uc002rml.2_Frame_Shift_Del_p.K151fs	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	151	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					GGCTTTAGGGAAAAACTGGAG	0.338													-	29052084	A	-	29052084	7	5	257	1	0	1	0	1	0	0	0	0	15026	247	9	0	465	0	SPDYA	2	29052084	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1367876	29052084	214147289	174	127106											
GALNT14	79623	broad.mit.edu	37	chr2	31215790	31215790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatacagcttataggggtcGtcaccaacgcgccacttttt	9	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:31215790G>A	uc002rnr.2	-	2	832	c.213C>T	c.(211-213)GAC>GAT	p.D71D	GALNT14_uc002rnq.2_Silent_p.D51D|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Silent_p.D36D|GALNT14_uc010ezo.1_Silent_p.D71D|GALNT14_uc010ezp.1_Silent_p.D42D	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	71	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TATAGGGGTCGTCACCAACGC	0.577													A	31215790	G	A	31215790	2	1	257	1	0	0	0	0	0	0	0	1	6212	1136	40	1		1	GALNT14	2	31215790	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2163706	31215790	211983583	175	127107											
VIT	5212	broad.mit.edu	37	chr2	37008909	37008909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggatcggtccttttagAtgaaggtaattatacagccc	9	9	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:37008909A>G	uc002rpl.2	+	10	1063	c.842A>G	c.(841-843)GAT>GGT	p.D281G	VIT_uc002rpm.2_Intron|VIT_uc010ezv.2_Intron|VIT_uc010ezw.2_Intron	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GTCCTTTTAGATGAAGGTAAT	0.433													G	37008909	A	G	37008909	3	3	257	1	0	0	0	0	1	0	0	0	17168	333	12	3	1001	3	VIT	2	37008909	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5793119	37008909	206190464	176	127108											
CEBPZ	10153	broad.mit.edu	37	chr2	37450518	37450518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatagcttgcttggaacacGtcatcaaccctggatccaac	7	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:37450518G>A	uc002rpz.2	-	3	1706	c.1676C>T	c.(1675-1677)ACG>ATG	p.T559M		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	559					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				CTTGGAACACGTCATCAACCC	0.393													A	37450518	G	A	37450518	3	1	257	1	0	0	0	0	1	0	0	0	3204	1145	40	1	1544	1	CEBPZ	2	37450518	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	441609	37450518	205748855	177	127109											
SLC3A1	6519	broad.mit.edu	37	chr2	44539884	44539884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaatctcaatgaaagcTatgatattgtaagttgaata	7	6	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:44539884T>C	uc002ruc.3	+	8	1570	c.1492T>C	c.(1492-1494)TAT>CAT	p.Y498H	SLC3A1_uc002rtz.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rua.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rub.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rud.3_Missense_Mutation_p.Y220H|SLC3A1_uc002rue.3_Missense_Mutation_p.Y118H	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	498	Extracellular (Potential).				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				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAATGAAAGCTATGATATTGT	0.333													C	44539884	T	C	44539884	3	2	257	1	0	0	0	0	1	0	0	0	14626	1522	53	3	1522	3	SLC3A1	2	44539884	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	7089366	44539884	198659489	178	127110											
EPAS1	2034	broad.mit.edu	37	chr2	46611727	46611727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatgactgtgaggtgaaCgtgcccgtgctgggaagctc	15	8	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:46611727C>T	uc002ruv.2	+	16	3029	c.2541C>T	c.(2539-2541)AAC>AAT	p.N847N	EPAS1_uc002ruw.2_Silent_p.N313N	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	847	CTAD.			N -> K (in Ref. 2; AAC51212).	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			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAGGTGAACGTGCCCGTGC	0.622													T	46611727	C	T	46611727	2	4	257	1	0	0	0	0	0	0	0	1	5150	535	19	1		1	EPAS1	2	46611727	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2071843	46611727	196587646	179	127111											
RHOQ	23433	broad.mit.edu	37	chr2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-													actccaaagaaacacactgtAaaaaaaagaataggatcaag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368													-	46808174	A	-	46808174	7	5	257	1	0	1	0	1	0	0	0	0	13342	349	13	0	588	0	RHOQ	2	46808174	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	196447	46808174	196391199	180	127112											
MSH6	2956	broad.mit.edu	37	chr2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	CC													attctgttgccggaagatacINScccccccttcttagagctta					rs63749866		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48030639_48030640A>ACC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>ACC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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)|p.F1088fs*5(1)|p.F1088fs*2(1)		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)			GCCGGAAGATACCCCCCCCTTC	0.436			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				CC	48030641	-	CC	48030640	7	5	257	1	0	1	1	0	0	0	0	0	9874	507	18	0	3272	0	MSH6	2	48030640	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1222466	48030640	195168733	181	127113											
FBXO11	80204	broad.mit.edu	37	chr2	48050427	48050427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttcacatcgaaccactgTagggttagcataggctttta	8	8	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48050427T>C	uc010fbl.2	-	12	1333	c.1219A>G	c.(1219-1221)ACA>GCA	p.T407A	FBXO11_uc002rwe.2_Missense_Mutation_p.T407A|FBXO11_uc002rwf.2_Missense_Mutation_p.T407A|FBXO11_uc002rwg.1_Missense_Mutation_p.T407A|FBXO11_uc010fbk.2_5'UTR	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	491	PbH1 5.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAACCACTGTAGGGTTAGCA	0.358													C	48050427	T	C	48050427	3	2	257	1	0	0	0	0	1	0	0	0	5727	1638	57	3	1450	3	FBXO11	2	48050427	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	19787	48050427	195148946	182	127114											
FOXN2	3344	broad.mit.edu	37	chr2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-													tcctcttaaaacagcattgcAaaaaaagaggagttacggca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48602091_48602091CA>C	uc002rwh.1	+	6	1120	c.805_805CA>C	c.(805-807)caafs	p.Q269fs		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	269					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)			AACAGCATTGCAAAAAAAGAG	0.383													-	48602092	A	-	48602092	7	5	257	1	0	1	0	1	0	0	0	0	6020	130	5	0	824	0	FOXN2	2	48602092	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	551665	48602092	194597281	183	127115											
KLRAQ1	129285	broad.mit.edu	37	chr2	48701860	48701860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctctctttgcacatctgCgttaagagccaggaatctag	8	11	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48701860C>T	uc002rwm.2	+	12	1312	c.1127C>T	c.(1126-1128)GCG>GTG	p.A376V	KLRAQ1_uc002rwj.2_Missense_Mutation_p.A376V|KLRAQ1_uc002rwl.2_Missense_Mutation_p.A330V|KLRAQ1_uc002rwk.2_Missense_Mutation_p.A376V|KLRAQ1_uc010yok.1_Missense_Mutation_p.A376V	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	376										ovary(1)	1						TGCACATCTGCGTTAAGAGCC	0.413													T	48701860	C	T	48701860	3	4	257	1	0	0	0	0	1	0	0	0	8413	768	27	1	1173	1	KLRAQ1	2	48701860	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	99768	48701860	194497513	184	127116											
PSME4	23198	broad.mit.edu	37	chr2	54127128	54127128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgactgttgaagtaattcCgctatttcaacacatgactt	6	8	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:54127128C>T	uc002rxp.2	-	29	3368	c.3312G>A	c.(3310-3312)GCG>GCA	p.A1104A	PSME4_uc010yop.1_Silent_p.A990A|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.A479A|PSME4_uc010fbv.1_Silent_p.A248A	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1104					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			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAAGTAATTCCGCTATTTCAA	0.274													T	54127128	C	T	54127128	2	4	257	1	0	0	0	0	0	0	0	1	12709	639	23	1		1	PSME4	2	54127128	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5425268	54127128	189072245	185	127117											
PSME4	23198	broad.mit.edu	37	chr2	54150493	54150493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacatgtctgccaccatgcGacctgctactcttgtttcaa	7	14	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:54150493G>A	uc002rxp.2	-	15	1929	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	PSME4_uc010yop.1_Missense_Mutation_p.R511C|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	625					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			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCCACCATGCGACCTGCTACT	0.338													A	54150493	G	A	54150493	3	1	257	1	0	0	0	0	1	0	0	0	12709	1058	37	1	3786	1	PSME4	2	54150493	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	23365	54150493	189048880	186	127118											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	257	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-HU-8602-01A-11D-2394-08	16647	54167140	189032233	187	127119											
REL	5966	broad.mit.edu	37	chr2	61118941	61118941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacagcacagacaacaaccGaacatacccttctatccagg	6	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:61118941G>A	uc002sam.1	+	2	358	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	REL_uc002san.1_Missense_Mutation_p.R45Q	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	45	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GACAACAACCGAACATACCCT	0.433			A		Hodgkin Lymphoma								A	61118941	G	A	61118941	3	1	257	1	0	0	0	0	1	0	0	0	13215	1058	37	1	140	1	REL	2	61118941	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6951801	61118941	182080432	188	127120											
USP34	9736	broad.mit.edu	37	chr2	61577527	61577527	+	Splice_Site	DEL	A	A	-													ggatgccaagtacagtgtctAaaaaaaagagggagagattt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		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)			GTACAGTGTCTAAAAAAAAGA	0.338													-	61577527	A	-	61577527	8	5	257	1	0	1	0	1	0	0	1	0	17062	377	13	0		0	USP34	2	61577527	Splice_Site	DEL	A	TCGA-HU-8602-01A-11D-2394-08	458586	61577527	181621846	189	127121											
PROKR1	10887	broad.mit.edu	37	chr2	68882559	68882559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactctgtgcttcgtgaccGtcaagaacgacaccgtcaag	9	13	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:68882559G>A	uc010yqj.1	+	2	1033	c.1033G>A	c.(1033-1035)GTC>ATC	p.V345I	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	345	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTTCGTGACCGTCAAGAACGA	0.502													A	68882559	G	A	68882559	3	1	257	1	0	0	0	0	1	0	0	0	12552	1145	40	1	1039	1	PROKR1	2	68882559	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7305032	68882559	174316814	190	127122											
ADD2	119	broad.mit.edu	37	chr2	70923451	70923451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacactgctgatcttgcaccGcatgagccgctcccctttgg	10	15	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:70923451G>A	uc002sgz.2	-	5	865	c.400C>T	c.(400-402)CGG>TGG	p.R134W	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.R134W|ADD2_uc002sha.2_Missense_Mutation_p.R134W|ADD2_uc002sgx.2_Missense_Mutation_p.R134W|ADD2_uc010fdt.1_Missense_Mutation_p.R134W|ADD2_uc002shc.1_Missense_Mutation_p.R134W|ADD2_uc002shd.1_Missense_Mutation_p.R134W|ADD2_uc010fdu.1_Missense_Mutation_p.R150W	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	134					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			ovary(2)|pancreas(1)	3						ATCTTGCACCGCATGAGCCGC	0.572													A	70923451	G	A	70923451	3	1	257	1	0	0	0	0	1	0	0	0	305	1086	38	1	2009	1	ADD2	2	70923451	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2040892	70923451	172275922	191	127123											
NAT8	9027	broad.mit.edu	37	chr2	73868563	73868563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggctgatgctgaacaCgagggctagaagccaggatc	15	8	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:73868563C>T	uc002sji.1	-	2	360	c.193G>A	c.(193-195)GTG>ATG	p.V65M		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	65	Helical; (Potential).|N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						ATGCTGAACACGAGGGCTAGA	0.552													T	73868563	C	T	73868563	3	4	257	1	0	0	0	0	1	0	0	0	10179	536	19	1	494	1	NAT8	2	73868563	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2945112	73868563	169330810	192	127124											
LBX2	85474	broad.mit.edu	37	chr2	74725186	74725186	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggacttccggggacaacgcGcgtagcgaggcgacgtcggc	17	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:74725186G>C	uc002slv.3	-	2	470	c.465C>G	c.(463-465)CGC>CGG	p.R155R	LBX2_uc002slw.2_Silent_p.R151R	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGACAACGCGCGTAGCGAGG	0.697													C	74725186	G	C	74725186	2	2	257	1	0	0	0	0	0	0	0	1	8654	1074	38	5		5	LBX2	2	74725186	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	856623	74725186	168474187	193	127125											
LOXL3	84695	broad.mit.edu	37	chr2	74777345	74777345	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtccgagaagccagggagGcgctggtctttgcagatgac	16	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:74777345G>C	uc002smp.1	-	3	516	c.444C>G	c.(442-444)CGC>CGG	p.R148R	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.R148R|LOXL3_uc002smq.1_Silent_p.R148R|LOXL3_uc010ffn.1_Silent_p.R148R|DOK1_uc002smr.2_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	148						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						AGCCAGGGAGGCGCTGGTCTT	0.567													C	74777345	G	C	74777345	2	2	257	1	0	0	0	0	0	0	0	1	8901	1190	42	5		5	LOXL3	2	74777345	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	52159	74777345	168422028	194	127126											
CTNNA2	1496	broad.mit.edu	37	chr2	80101333	80101333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgctacgagagccaaCcgagattatgtgttcaaaca	10	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:80101333C>T	uc010ysh.1	+	5	722	c.717C>T	c.(715-717)AAC>AAT	p.N239N	CTNNA2_uc010yse.1_Silent_p.N239N|CTNNA2_uc010ysf.1_Silent_p.N239N|CTNNA2_uc010ysg.1_Silent_p.N239N	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	239					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CGAGAGCCAACCGAGATTATG	0.592													T	80101333	C	T	80101333	2	4	257	1	0	0	0	0	0	0	0	1	4013	506	18	4		4	CTNNA2	2	80101333	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5323988	80101333	163098040	195	127127											
CTNNA2	1496	broad.mit.edu	37	chr2	80801404	80801404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcctggtgtatgatggcGttcgggacatcagaaaggct	14	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:80801404G>A	uc010ysh.1	+	12	1863	c.1858G>A	c.(1858-1860)GTT>ATT	p.V620I	CTNNA2_uc010yse.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysf.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysg.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysi.1_Missense_Mutation_p.V252I	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	620					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			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GTATGATGGCGTTCGGGACAT	0.502													A	80801404	G	A	80801404	3	1	257	1	0	0	0	0	1	0	0	0	4013	1145	40	1	1696	1	CTNNA2	2	80801404	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	700071	80801404	162397969	196	127128											
PROM2	150696	broad.mit.edu	37	chr2	95952569	95952569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaaagctcaacctcagCgtcagggccctggagtcctc	11	15	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:95952569C>T	uc002suh.1	+	18	2191	c.2058C>T	c.(2056-2058)AGC>AGT	p.S686S	PROM2_uc002sui.2_Silent_p.S686S|PROM2_uc002suj.2_Silent_p.S340S|PROM2_uc002suk.2_Silent_p.S686S|PROM2_uc002sul.2_Silent_p.S212S|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	686	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						TCAACCTCAGCGTCAGGGCCC	0.448													T	95952569	C	T	95952569	2	4	257	1	0	0	0	0	0	0	0	1	12556	767	27	1		1	PROM2	2	95952569	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	15151165	95952569	147246804	197	127129											
CIAO1	9391	broad.mit.edu	37	chr2	96936850	96936850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcactttccttccaggTgtcagctgacaggggctctg	12	11	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:96936850T>C	uc002svs.2	+	7	986	c.781T>C	c.(781-783)TGT>CGT	p.C261R		NM_004804	NP_004795	O76071	CIAO1_HUMAN	WD repeat domain 39	261	WD 6.				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding				0						TCCTTCCAGGTGTCAGCTGAC	0.557													C	96936850	T	C	96936850	3	2	257	1	0	0	0	0	1	0	0	0	3418	1710	59	3	807	3	CIAO1	2	96936850	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	984281	96936850	146262523	198	127130											
EIF5B	9669	broad.mit.edu	37	chr2	99976805	99976805	+	Frame_Shift_Del	DEL	A	A	-													aagggaaaaagaaaaaagagAaaaaaaagcaggactttgag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:99976805delA	uc002tab.2	+	2	326	c.142delA	c.(142-144)AAAfs	p.K48fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	48	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GAAAAAAGAGAAAAAAAAGCA	0.338													-	99976805	A	-	99976805	7	5	257	1	0	1	0	1	0	0	0	0	5044	247	9	0	148	0	EIF5B	2	99976805	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	3039955	99976805	143222568	199	127131											
EIF5B	9669	broad.mit.edu	37	chr2	99977878	99977878	+	Frame_Shift_Del	DEL	A	A	-													aggaggatgaggataacagtAaaaaaattaaagagcgttca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:99977878delA	uc002tab.2	+	4	698	c.514delA	c.(514-516)AAAfs	p.K172fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	172					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GGATAACAGTAAAAAAATTAA	0.323													-	99977878	A	-	99977878	7	5	257	1	0	1	0	1	0	0	0	0	5044	363	13	0	528	0	EIF5B	2	99977878	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1073	99977878	143221495	200	127132											
REV1	51455	broad.mit.edu	37	chr2	100055712	100055712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatcttcttcattccaActgttcatgccattgacttt	3	11	5	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:100055712A>G	uc002tad.2	-	6	776	c.564T>C	c.(562-564)AGT>AGC	p.S188S	REV1_uc002tac.2_Silent_p.S188S|REV1_uc002tae.1_Silent_p.S167S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	188					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CTTCATTCCAACTGTTCATGC	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	100055712	A	G	100055712	2	3	257	1	0	0	0	0	0	0	0	1	13239	40	2	3		3	REV1	2	100055712	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	77834	100055712	143143661	201	127133											
IL18R1	8809	broad.mit.edu	37	chr2	102984300	102984300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaatcttgtacttcacGtccccacattactgtggttg	8	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:102984300G>A	uc002tbw.3	+	3	224	c.74G>A	c.(73-75)CGT>CAT	p.R25H	IL18R1_uc010ywb.1_Missense_Mutation_p.R25H|IL18R1_uc010ywc.1_Missense_Mutation_p.R25H|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.R25H	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	25	Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						TGTACTTCACGTCCCCACATT	0.353													A	102984300	G	A	102984300	3	1	257	1	0	0	0	0	1	0	0	0	7647	1145	40	1	80	1	IL18R1	2	102984300	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2928588	102984300	140215073	202	127134											
SLC9A4	389015	broad.mit.edu	37	chr2	103136407	103136407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaacatgtaccaagttcGgcaaagggtgtgtatgagcc	11	9	0	1	rs144537340		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:103136407G>A	uc002tbz.3	+	9	2268	c.1811G>A	c.(1810-1812)CGG>CAG	p.R604Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	604	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						TACCAAGTTCGGCAAAGGGTG	0.468													A	103136407	G	A	103136407	3	1	257	1	0	0	0	0	1	0	0	0	14716	1116	39	1	1845	1	SLC9A4	2	103136407	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	152107	103136407	140062966	203	127135											
POU3F3	5455	broad.mit.edu	37	chr2	105473227	105473227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtgagcgtcaagggcgCgctggagagccacttcctca	15	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:105473227C>T	uc010ywg.1	+	1	1259	c.1259C>T	c.(1258-1260)GCG>GTG	p.A420V		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	420	Homeobox.				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			ovary(1)	1						GTCAAGGGCGCGCTGGAGAGC	0.662													T	105473227	C	T	105473227	3	4	257	1	0	0	0	0	1	0	0	0	12276	768	27	1	1261	1	POU3F3	2	105473227	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2336820	105473227	137726146	204	127136											
RANBP2	5903	broad.mit.edu	37	chr2	109379723	109379723	+	Frame_Shift_Del	DEL	C	C	-													atggcatgaataggcttccaCcccaacagcatatttatgcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:109379722_109379722AC>A	uc002tem.4	+	19	2853	c.2727_2727AC>A	c.(2725-2727)ccafs	p.P909fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	909					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|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						ATAGGCTTCCACCCCAACAGC	0.423													-	109379723	C	-	109379723	7	5	257	1	0	1	0	1	0	0	0	0	13028	507	18	0	2806	0	RANBP2	2	109379723	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	3906496	109379723	133819650	205	127137											
RANBP2	5903	broad.mit.edu	37	chr2	109380873	109380873	+	Frame_Shift_Del	DEL	T	T	-													aactcctgaggaagcagcacTttttaaatgcaagtttgaag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:109380872_109380872CT>C	uc002tem.4	+	19	4003	c.3877_3877CT>C	c.(3877-3879)cttfs	p.L1293fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1293	RanBD1 1.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|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						GGAAGCAGCACTTTTTAAATG	0.413													-	109380873	T	-	109380873	7	5	257	1	0	1	0	1	0	0	0	0	13028	1609	56	0	3956	0	RANBP2	2	109380873	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1150	109380873	133818500	206	127138											
RANBP2	5903	broad.mit.edu	37	chr2	109381510	109381510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgctgcttgtcagaatccGagaaaacagagtctacctgc	10	10	2	3	rs140837223		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:109381510G>A	uc002tem.3	+	20	4641	c.4515G>A	c.(4513-4515)CCG>CCA	p.P1505P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1505	RanBP2-type 3.				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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GTCAGAATCCGAGAAAACAGA	0.403													A	109381510	G	A	109381510	2	1	257	1	0	0	0	0	0	0	0	1	13028	1045	37	1		1	RANBP2	2	109381510	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	637	109381510	133817863	207	127139											
POLR1B	84172	broad.mit.edu	37	chr2	113332867	113332867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggctagaactggaagCagacatcttcataggagtgg	14	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:113332867C>T	uc002thw.2	+	15	3549	c.2969C>T	c.(2968-2970)GCA>GTA	p.A990V	POLR1B_uc010fkn.2_Missense_Mutation_p.A934V|POLR1B_uc002thx.2_Missense_Mutation_p.A851V|POLR1B_uc010fko.2_Missense_Mutation_p.A807V|POLR1B_uc010fkp.2_Missense_Mutation_p.A429V|POLR1B_uc010yxn.1_Missense_Mutation_p.A1028V|POLR1B_uc002thy.2_Missense_Mutation_p.A851V|POLR1B_uc010yxo.1_Missense_Mutation_p.A767V	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	990					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			ovary(1)	1						GAACTGGAAGCAGACATCTTC	0.458													T	113332867	C	T	113332867	3	4	257	1	0	0	0	0	1	0	0	0	12210	710	25	2	3027	2	POLR1B	2	113332867	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3951357	113332867	129866506	208	127140											
PAX8	7849	broad.mit.edu	37	chr2	114004377	114004377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggctgacgcggagctggcGagagatgtcgcagggcctta	17	9	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:114004377G>A	uc010yxt.1	-	3	311	c.145C>T	c.(145-147)CGC>TGC	p.R49C	PAX8_uc010yxu.1_Missense_Mutation_p.R49C|PAX8_uc010yxv.1_Missense_Mutation_p.R49C|PAX8_uc002tjm.2_Missense_Mutation_p.R49C|PAX8_uc002tjn.2_Missense_Mutation_p.R49C|PAX8_uc010fku.1_Missense_Mutation_p.R49C|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	49	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			ovary(1)|lung(1)	2						CGGAGCTGGCGAGAGATGTCG	0.637			T	PPARG	follicular thyroid		Thyroid dysgenesis 						A	114004377	G	A	114004377	3	1	257	1	0	0	0	0	1	0	0	0	11485	1058	37	1	1122	1	PAX8	2	114004377	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	671510	114004377	129194996	209	127141											
MARCO	8685	broad.mit.edu	37	chr2	119727888	119727888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagcacttgctgcagcGggtagacaacttcactcaga	10	12	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:119727888G>A	uc002tln.1	+	3	530	c.398G>A	c.(397-399)CGG>CAG	p.R133Q	MARCO_uc010yyf.1_Missense_Mutation_p.R55Q	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	133	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGCTGCAGCGGGTAGACAAC	0.602													A	119727888	G	A	119727888	3	1	257	1	0	0	0	0	1	0	0	0	9311	1116	39	1	408	1	MARCO	2	119727888	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5723511	119727888	123471485	210	127142											
STEAP3	55240	broad.mit.edu	37	chr2	120020715	120020715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgccttcgaggagagccGctacaagttctacctgcctc	10	16	1	1	rs144758696	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:120020715G>A	uc002tlp.2	+	6	1425	c.1268G>A	c.(1267-1269)CGC>CAC	p.R423H	STEAP3_uc002tlq.2_Missense_Mutation_p.R433H|STEAP3_uc002tlr.2_Missense_Mutation_p.R423H|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	423	Vesicular (Potential).				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			central_nervous_system(2)|skin(1)	3						GAGGAGAGCCGCTACAAGTTC	0.622													A	120020715	G	A	120020715	3	1	257	1	0	0	0	0	1	0	0	0	15278	1087	38	1	1316	1	STEAP3	2	120020715	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	292827	120020715	123178658	211	127143											
MYO7B	4648	broad.mit.edu	37	chr2	128366301	128366301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgccgctggtcatcccgGccgaggggcagaaaagccaa	15	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:128366301G>A	uc002top.2	+	22	2715	c.2662G>A	c.(2662-2664)GCC>ACC	p.A888T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	888						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTCATCCCGGCCGAGGGGCA	0.652													A	128366301	G	A	128366301	3	1	257	1	0	0	0	0	1	0	0	0	10083	1203	42	2	2744	2	MYO7B	2	128366301	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	8345586	128366301	114833072	212	127144											
WDR33	55339	broad.mit.edu	37	chr2	128520648	128520648	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acacgtacctcggagaattcTttcctcatggcaacgaagaa	8	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:128520648T>A	uc002tpg.1	-	7	895	c.712A>T	c.(712-714)AGA>TGA	p.R238*	WDR33_uc002tph.1_Nonsense_Mutation_p.R238*	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	238	WD 3.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CGGAGAATTCTTTCCTCATGG	0.393													A	128520648	T	A	128520648	4	1	257	1	0	0	0	0	0	1	0	0	17284	1617	56	5	3416	5	WDR33	2	128520648	Nonsense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	154347	128520648	114678725	213	127145											
SAP130	79595	broad.mit.edu	37	chr2	128757640	128757640	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggacttaccagctgtggtCgctgaaggaatggtgttggt	16	6	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:128757640C>T	uc002tpp.2	-	9	1308	c.1176G>A	c.(1174-1176)GCG>GCA	p.A392A	SAP130_uc002tpn.2_Silent_p.A153A|SAP130_uc002tpo.2_Silent_p.A137A|SAP130_uc010fmd.2_Silent_p.A392A|SAP130_uc002tpq.1_Silent_p.A365A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	392					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGCTGTGGTCGCTGAAGGAA	0.493													T	128757640	C	T	128757640	2	4	257	1	0	0	0	0	0	0	0	1	13831	871	31	1		1	SAP130	2	128757640	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	236992	128757640	114441733	214	127146											
SMPD4	55627	broad.mit.edu	37	chr2	130911877	130911877	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggcctcgggcccaaacatCggggtgtacttgcagtcctg	14	13	0	0	rs2599983		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:130911877C>T	uc002tqq.1	-	16	2269	c.1749G>A	c.(1747-1749)CCG>CCA	p.P583P	SMPD4_uc002tqo.1_Silent_p.P115P|SMPD4_uc002tqp.1_Silent_p.P322P|SMPD4_uc010yzy.1_Silent_p.P332P|SMPD4_uc010yzz.1_Silent_p.P247P|SMPD4_uc002tqr.1_Silent_p.P554P|SMPD4_uc002tqs.1_Silent_p.P451P|SMPD4_uc002tqt.1_Silent_p.P432P|SMPD4_uc010zaa.1_Silent_p.P441P|SMPD4_uc010zab.1_Silent_p.P481P|SMPD4_uc010zac.1_Silent_p.P324P|SMPD4_uc010zad.1_Silent_p.P219P	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	544					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				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCCAAACATCGGGGTGTACT	0.652													T	130911877	C	T	130911877	2	4	257	1	0	0	0	0	0	0	0	1	14807	871	31	1		1	SMPD4	2	130911877	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2154237	130911877	112287496	215	127147											
TUBA3E	112714	broad.mit.edu	37	chr2	130951527	130951527	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatctgattggctggctcGaagcaggcattggtgatctc	12	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:130951527G>A	uc002tqv.2	-	4	989	c.888C>T	c.(886-888)TTC>TTT	p.F296F		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	296					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					TGGCTGGCTCGAAGCAGGCAT	0.597													A	130951527	G	A	130951527	2	1	257	1	0	0	0	0	0	0	0	1	16745	1049	37	1		1	TUBA3E	2	130951527	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	39650	130951527	112247846	216	127148											
PTPN18	26469	broad.mit.edu	37	chr2	131130796	131130796	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagtggacccgggtgtAagtctaacgccagttcctgc	13	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:131130796A>G	uc002trc.2	+	15	1483	c.1382A>G	c.(1381-1383)TAA>TGA	p.*461*	PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Silent_p.*354*|PTPN18_uc002tre.2_Silent_p.*112*	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	461						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					ACCCGGGTGTAAGTCTAACGC	0.637													G	131130796	A	G	131130796	2	3	257	1	0	0	0	0	0	0	0	1	12784	369	13	3		3	PTPN18	2	131130796	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	179269	131130796	112068577	217	127149											
CFC1B	653275	broad.mit.edu	37	chr2	131356243	131356243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcccgggagtaggggagCggctcctccggcccccagcc	15	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:131356243C>T	uc002tro.1	-	3	610	c.219G>A	c.(217-219)CCG>CCA	p.P73P		NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	73					gastrulation	extracellular region					0	Colorectal(110;0.1)					AGTAGGGGAGCGGCTCCTCCG	0.622													T	131356243	C	T	131356243	2	4	257	1	0	0	0	0	0	0	0	1	3280	755	27	1		1	CFC1B	2	131356243	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	225447	131356243	111843130	218	127150											
TUBA3D	113457	broad.mit.edu	37	chr2	132237951	132237951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacgtacaccaacctcaatCgcctgattgggcagatcgtg	9	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:132237951C>T	uc002tsu.3	+	4	792	c.685C>T	c.(685-687)CGC>TGC	p.R229C		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	229					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAACCTCAATCGCCTGATTGG	0.527													T	132237951	C	T	132237951	3	4	257	1	0	0	0	0	1	0	0	0	16744	884	31	1	699	1	TUBA3D	2	132237951	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	881708	132237951	110961422	219	127151											
NCKAP5	344148	broad.mit.edu	37	chr2	133538706	133538706	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagtactgatagagctgccGatgagacaggagccctgaga	14	8	0	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:133538706G>A	uc002ttp.2	-	15	5342	c.4968C>T	c.(4966-4968)ATC>ATT	p.I1656I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1656							protein binding				0						TAGAGCTGCCGATGAGACAGG	0.458													A	133538706	G	A	133538706	2	1	257	1	0	0	0	0	0	0	0	1	10223	1048	37	1		1	NCKAP5	2	133538706	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1300755	133538706	109660667	220	127152											
SPOPL	339745	broad.mit.edu	37	chr2	139318409	139318410	+	Frame_Shift_Ins	INS	-	-	T													aatgatttagaccctgaagtINSttttaaagaaatgatgagat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:139318408_139318409G>GT	uc002tvh.3	+	7	1148_1149	c.748_749G>GT	c.(748-750)gttfs	p.V250fs		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	250	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGACCCTGAAGTTTTTAAAGAA	0.332													T	139318410	-	T	139318409	7	5	257	1	0	1	1	0	0	0	0	0	15084	1725	60	0	775	0	SPOPL	2	139318409	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	5779703	139318409	103880964	221	127153											
LRP1B	53353	broad.mit.edu	37	chr2	141751585	141751585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtttactgaatcctcatCgcttccgtctaggcagtcat	8	12	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:141751585C>T	uc002tvj.1	-	16	3595	c.2623G>A	c.(2623-2625)GAT>AAT	p.D875N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	875	Extracellular (Potential).|LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GAATCCTCATCGCTTCCGTCT	0.433										TSP Lung(27;0.18)			T	141751585	C	T	141751585	3	4	257	1	0	0	0	0	1	0	0	0	8955	884	31	1	11480	1	LRP1B	2	141751585	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2433176	141751585	101447788	222	127154											
NEB	4703	broad.mit.edu	37	chr2	152394412	152394412	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtgtcagtgactgctcGgtggtggaaatgctctggac	15	8	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:152394412G>A	uc010fnx.2	-	112	16164	c.15973C>T	c.(15973-15975)CGA>TGA	p.R5325*	NEB_uc002txr.2_Nonsense_Mutation_p.R1748*	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5325	Nebulin 145.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGACTGCTCGGTGGTGGAAA	0.393													A	152394412	G	A	152394412	4	1	257	1	0	0	0	0	0	1	0	0	10302	1124	39	1	4782	1	NEB	2	152394412	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	10642827	152394412	90804961	223	127155											
NEB	4703	broad.mit.edu	37	chr2	152410393	152410393	+	Frame_Shift_Del	DEL	G	G	-													tgatcattgacttgcaagtcGgggtggcaaatccattcgtg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:152410392_152410392CG>C	uc021vrb.1	-	96	14502	c.14473_14473CG>G	c.(14473-14475)gacfs	p.D4825fs	NEB_uc002txr.3_Frame_Shift_Del_p.D1291fs|NEB_uc002txu.3_Frame_Shift_Del_p.D6526fs|NEB_uc021vrc.1_Frame_Shift_Del_p.D6526fs|NEB_uc010fnx.3_Frame_Shift_Del_p.D4813fs|NEB_uc021vrd.1_Frame_Shift_Del_p.D4825fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4825					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.P4824P(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTTGCAAGTCGGGGTGGCAA	0.547													-	152410393	G	-	152410393	7	5	257	1	0	1	0	1	0	0	0	0	10302	1103	39	0	6339	0	NEB	2	152410393	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	15981	152410393	90788980	224	127156											
CACNB4	785	broad.mit.edu	37	chr2	152732944	152732944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgggaacgtaccctcCgtgaaaacgtcctctttttt	8	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:152732944C>T	uc002tya.2	-	5	585	c.517G>A	c.(517-519)GGA>AGA	p.G173R	CACNB4_uc002txy.2_Missense_Mutation_p.G139R|CACNB4_uc002txz.2_Missense_Mutation_p.G155R|CACNB4_uc010fnz.2_Missense_Mutation_p.G173R|CACNB4_uc002tyb.2_Missense_Mutation_p.G139R	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	173					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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ACGTACCCTCCGTGAAAACGT	0.403													T	152732944	C	T	152732944	3	4	257	1	0	0	0	0	1	0	0	0	2555	661	23	1	1085	1	CACNB4	2	152732944	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	322551	152732944	90466429	225	127157											
ACVR1C	130399	broad.mit.edu	37	chr2	158395174	158395174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatcgagggatctgaagGcaccatgtcataataaggca	10	9	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:158395174G>A	uc002tzk.3	-	8	1510	c.1267C>T	c.(1267-1269)CCT>TCT	p.P423S	ACVR1C_uc002tzl.3_Missense_Mutation_p.P343S|ACVR1C_uc010fof.2_Missense_Mutation_p.P266S|ACVR1C_uc010foe.2_Missense_Mutation_p.P373S	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	423	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						GGATCTGAAGGCACCATGTCA	0.373													A	158395174	G	A	158395174	3	1	257	1	0	0	0	0	1	0	0	0	222	1203	42	2	222	2	ACVR1C	2	158395174	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5662230	158395174	84804199	226	127158											
UPP2	151531	broad.mit.edu	37	chr2	158974403	158974403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaattactccaccatgcacGgtgctgcgatgtcaccatta	7	13	1	0	rs148283386	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:158974403G>A	uc002tzp.2	+	4	601	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	UPP2_uc002tzo.2_Missense_Mutation_p.R193Q	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	136					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				0						CACCATGCACGGTGCTGCGAT	0.428													A	158974403	G	A	158974403	3	1	257	1	0	0	0	0	1	0	0	0	17010	1116	39	1	600	1	UPP2	2	158974403	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	579229	158974403	84224970	227	127159											
UPP2	151531	broad.mit.edu	37	chr2	158980303	158980303	+	Frame_Shift_Del	DEL	A	A	-													actgtgctccttttccagagAaaaaaagttagactacttga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:158980303delA	uc002tzp.2	+	6	901	c.707delA	c.(706-708)GAAfs	p.E236fs	UPP2_uc002tzo.2_Frame_Shift_Del_p.E293fs	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	236					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				0						TTTTCCAGAGAAAAAAAGTTA	0.468													-	158980303	A	-	158980303	7	5	257	1	0	1	0	1	0	0	0	0	17010	246	9	0	908	0	UPP2	2	158980303	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	5900	158980303	84219070	228	127160											
ITGB6	3694	broad.mit.edu	37	chr2	161052032	161052032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttattgtgttgaggtcGtcatccatggaggcggagag	14	7	1	2	rs61758144		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:161052032G>A	uc002ubh.2	-	4	457	c.441C>T	c.(439-441)GAC>GAT	p.D147D	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.D147D|ITGB6_uc010zcq.1_Silent_p.D105D|ITGB6_uc010fov.1_Silent_p.D147D	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	147	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TGTTGAGGTCGTCATCCATGG	0.512													A	161052032	G	A	161052032	2	1	257	1	0	0	0	0	0	0	0	1	7899	1136	40	1		1	ITGB6	2	161052032	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2071729	161052032	82147341	229	127161											
CSRNP3	80034	broad.mit.edu	37	chr2	166536156	166536156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcattgaatggtgacAgtcacatttcagagcatcct	8	10	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:166536156A>G	uc002udf.2	+	7	2027	c.1651A>G	c.(1651-1653)AGT>GGT	p.S551G	CSRNP3_uc002udg.2_Missense_Mutation_p.S551G	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	551					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						GAATGGTGACAGTCACATTTC	0.448													G	166536156	A	G	166536156	3	3	257	1	0	0	0	0	1	0	0	0	3965	188	7	3	1665	3	CSRNP3	2	166536156	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5484124	166536156	76663217	230	127162											
XIRP2	129446	broad.mit.edu	37	chr2	168101881	168101881	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctatgcaattcaagacCgagaagggtcctatcatgaa	8	10	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:168101881C>T	uc002udx.2	+	8	3997	c.3979C>T	c.(3979-3981)CGA>TGA	p.R1327*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1152*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1105*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1152					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATTCAAGACCGAGAAGGGTC	0.398													T	168101881	C	T	168101881	4	4	257	1	0	0	0	0	0	1	0	0	17427	644	23	1	4009	1	XIRP2	2	168101881	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1565725	168101881	75097492	231	127163											
XIRP2	129446	broad.mit.edu	37	chr2	168102837	168102837	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattattaaacagatcaacTgaatttcatgctgaaaaaga	5	6	2	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:168102837T>C	uc002udx.2	+	8	4953	c.4935T>C	c.(4933-4935)ACT>ACC	p.T1645T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1470T|XIRP2_uc010fpq.2_Silent_p.T1423T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1470					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ACAGATCAACTGAATTTCATG	0.323													C	168102837	T	C	168102837	2	2	257	1	0	0	0	0	0	0	0	1	17427	1567	55	3		3	XIRP2	2	168102837	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	956	168102837	75096536	232	127164											
XIRP2	129446	broad.mit.edu	37	chr2	168106361	168106361	+	Frame_Shift_Del	DEL	A	A	-													gaaacttccaggaagtgaagAaaaaaatcagggaccatcaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:168106360_168106360GA>G	uc002udx.3	+	8	8547	c.8458_8458GA>G	c.(8458-8460)gaafs	p.E2820fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.E2645fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.E2598fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2645					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						AGGAAGTGAAGAAAAAAATCA	0.398													-	168106361	A	-	168106361	7	5	257	1	0	1	0	1	0	0	0	0	17427	246	9	0	8489	0	XIRP2	2	168106361	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	3524	168106361	75093012	233	127165											
GORASP2	26003	broad.mit.edu	37	chr2	171822431	171822431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagctcaggagagctgCtgtcttccctcccgcccacc	9	18	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:171822431C>T	uc002ugk.2	+	10	1290	c.1150C>T	c.(1150-1152)CTG>TTG	p.L384L	GORASP2_uc002ugj.2_Silent_p.L316L|GORASP2_uc010zdl.1_Silent_p.L396L|GORASP2_uc010zdm.1_Silent_p.L340L|GORASP2_uc002ugl.2_Silent_p.L316L|GORASP2_uc002ugm.2_Silent_p.L166L	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	384						Golgi membrane				breast(1)|central_nervous_system(1)	2						AGGAGAGCTGCTGTCTTCCCT	0.607													T	171822431	C	T	171822431	2	4	257	1	0	0	0	0	0	0	0	1	6576	796	28	2		2	GORASP2	2	171822431	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3716070	171822431	71376942	234	127166											
ITGA6	3655	broad.mit.edu	37	chr2	173335733	173335733	+	Frame_Shift_Del	DEL	T	T	-													gtagagcaaaagaataacacTttttttgacatgaacatctt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:173335732_173335732CT>C	uc002uhp.1	+	4	877	c.674_674CT>C	c.(673-675)actfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Del_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Del_p.T225fs|ITGA6_uc010fql.2_Non-coding_Transcript	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	225					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)			AAGAATAACACTTTTTTTGAC	0.343													-	173335733	T	-	173335733	7	5	257	1	0	1	0	1	0	0	0	0	7880	1596	56	0	693	0	ITGA6	2	173335733	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1513302	173335733	69863640	235	127167											
KIAA1715	80856	broad.mit.edu	37	chr2	176857133	176857133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttccctaaattcttccAatgcttgaatttcctgttaa	3	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:176857133A>G	uc002ukc.1	-	4	276	c.83T>C	c.(82-84)TTG>TCG	p.L28S	KIAA1715_uc010zer.1_Missense_Mutation_p.L28S|KIAA1715_uc010fqw.1_Missense_Mutation_p.L94S|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	28	Potential.|Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AAATTCTTCCAATGCTTGAAT	0.259													G	176857133	A	G	176857133	3	3	257	1	0	0	0	0	1	0	0	0	8254	131	5	3	1243	3	KIAA1715	2	176857133	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	3521400	176857133	66342240	236	127168											
HOXD1	3231	broad.mit.edu	37	chr2	177053568	177053568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgtcatgcagcagcagCggcggggtcggcggcgacgt	18	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:177053568C>T	uc002ukv.3	+	1	262	c.39C>T	c.(37-39)AGC>AGT	p.S13S	HOXD1_uc010fqy.2_Silent_p.S13S|HOXD1_uc010zez.1_Silent_p.S13S	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	13						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GCAGCAGCAGCGGCGGGGTCG	0.716													T	177053568	C	T	177053568	2	4	257	1	0	0	0	0	0	0	0	1	7318	767	27	1		1	HOXD1	2	177053568	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	196435	177053568	66145805	237	127169											
OSBPL6	114880	broad.mit.edu	37	chr2	179214012	179214012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaccccaacctttgtgCagatattgaatttcagactc	5	13	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179214012C>T	uc002ulx.2	+	12	1427	c.1049C>T	c.(1048-1050)GCA>GTA	p.A350V	OSBPL6_uc002ulw.2_Missense_Mutation_p.A319V|OSBPL6_uc002uly.2_Missense_Mutation_p.A375V|OSBPL6_uc010zfe.1_Missense_Mutation_p.A319V|OSBPL6_uc002ulz.2_Missense_Mutation_p.A350V|OSBPL6_uc002uma.2_Missense_Mutation_p.A354V	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	350				A -> V (in Ref. 4; BAG62123).	lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AACCTTTGTGCAGATATTGAA	0.438													T	179214012	C	T	179214012	3	4	257	1	0	0	0	0	1	0	0	0	11281	710	25	2	1209	2	OSBPL6	2	179214012	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2160444	179214012	63985361	238	127170											
TTN	7273	broad.mit.edu	37	chr2	179409151	179409151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgtcagtaccaccatcGtacatgggtttggtccatgc	9	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179409151G>A	uc010zfg.1	-	294	88325	c.88101C>T	c.(88099-88101)TAC>TAT	p.Y29367Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y23062Y|TTN_uc010zfi.1_Silent_p.Y22995Y|TTN_uc010zfj.1_Silent_p.Y22870Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30294							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCACCATCGTACATGGGTT	0.443													A	179409151	G	A	179409151	2	1	257	1	0	0	0	0	0	0	0	1	16732	1140	40	1		1	TTN	2	179409151	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	195139	179409151	63790222	239	127171			1	61		6	6	5164	N	T_G_CTTTT_A	2.023038e-05
TTN	7273	broad.mit.edu	37	chr2	179410269	179410269	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accacatagtctttgttgacAcgtgtccagcgcaggctctt	9	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179410269A>C	uc010zfg.1	-	293	88088	c.87864T>G	c.(87862-87864)CGT>CGG	p.R29288R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R22983R|TTN_uc010zfi.1_Silent_p.R22916R|TTN_uc010zfj.1_Silent_p.R22791R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30215							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGTTGACACGTGTCCAGC	0.483													C	179410269	A	C	179410269	2	2	257	1	0	0	0	0	0	0	0	1	16732	146	6	5		5	TTN	2	179410269	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1118	179410269	63789104	240	127172			1	61		6	6	5164	N	T_G_CTTTT_A	2.023038e-05
TTN	7273	broad.mit.edu	37	chr2	179410765	179410765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgctcctccgtcttccTgcggaaggctccaggctaaa	9	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179410765T>C	uc010zfg.1	-	292	87718	c.87494A>G	c.(87493-87495)CAG>CGG	p.Q29165R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q22860R|TTN_uc010zfi.1_Missense_Mutation_p.Q22793R|TTN_uc010zfj.1_Missense_Mutation_p.Q22668R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30092							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCGTCTTCCTGCGGAAGGCT	0.527													C	179410765	T	C	179410765	3	2	257	1	0	0	0	0	1	0	0	0	16732	1580	55	3	12861	3	TTN	2	179410765	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	496	179410765	63788608	241	127173			1	61		6	6	5164	N	T_G_CTTTT_A	2.023038e-05
TTN	7273	broad.mit.edu	37	chr2	179413514	179413514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtctaccttggtaggcaaTgaagaggcgaatactggccc	13	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179413514T>C	uc010zfg.1	-	288	85359	c.85135A>G	c.(85135-85137)ATT>GTT	p.I28379V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I22074V|TTN_uc010zfi.1_Missense_Mutation_p.I22007V|TTN_uc010zfj.1_Missense_Mutation_p.I21882V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29306							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTAGGCAATGAAGAGGCGA	0.463													C	179413514	T	C	179413514	3	2	257	1	0	0	0	0	1	0	0	0	16732	1464	51	3	15236	3	TTN	2	179413514	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2749	179413514	63785859	242	127174			1	61		6	6	5164	N	T_G_CTTTT_A	2.023038e-05
TTN	7273	broad.mit.edu	37	chr2	179414065	179414069	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-													tcacttttacccatcttgtgCttttcttttctcttctttca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179414064_179414068GCTTTT>G	uc021vsy.1	-	287	84806_84810	c.84581_84585AAAAGC>C	c.(84580-84585)aaaagcfs	p.K28194fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.K21889fs|TTN_uc021vta.1_Frame_Shift_Del_p.K21822fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K21697fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29121							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)			CCCATCTTGTGCTTTTCTTTTCTCT	0.42													-	179414069	CTTTT	-	179414065	7	5	257	1	0	1	0	1	0	0	0	0	16732	797	28	0	15787	0	TTN	2	179414065	Frame_Shift_Del	DEL	CTTTT	TCGA-HU-8602-01A-11D-2394-08	551	179414065	63785308	243	127175			1	61		6	6	5164	N	T_G_CTTTT_A	2.023038e-05
TTN	7273	broad.mit.edu	37	chr2	179414314	179414314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactatattgtatttgagcaAccactggatcagaatcaagt	7	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179414314A>G	uc010zfg.1	-	287	84655	c.84431T>C	c.(84430-84432)GTT>GCT	p.V28144A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V21839A|TTN_uc010zfi.1_Missense_Mutation_p.V21772A|TTN_uc010zfj.1_Missense_Mutation_p.V21647A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29071							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTGAGCAACCACTGGATC	0.373													G	179414314	A	G	179414314	3	3	257	1	0	0	0	0	1	0	0	0	16732	43	2	3	15944	3	TTN	2	179414314	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	249	179414314	63785059	244	127176			1	61		6	6	5164	N	T_G_CTTTT_A	2.023038e-05
TTN	7273	broad.mit.edu	37	chr2	179433561	179433561	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaactctaaaaagataTtcttccccttgagttaggtt	6	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179433561T>C	uc010zfg.1	-	275	69818	c.69594A>G	c.(69592-69594)GAA>GAG	p.E23198E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.E16893E|TTN_uc010zfi.1_Silent_p.E16826E|TTN_uc010zfj.1_Silent_p.E16701E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24125							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAAAGATATTCTTCCCCTT	0.418													C	179433561	T	C	179433561	2	2	257	1	0	0	0	0	0	0	0	1	16732	1490	52	3		3	TTN	2	179433561	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	19247	179433561	63765812	245	127177											
TTN	7273	broad.mit.edu	37	chr2	179466820	179466820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaatcctaatctgtgagCcagctttacaaaccagacag	8	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179466820C>T	uc010zfg.1	-	233	47698	c.47474G>A	c.(47473-47475)GGC>GAC	p.G15825D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9520D|TTN_uc010zfi.1_Missense_Mutation_p.G9453D|TTN_uc010zfj.1_Missense_Mutation_p.G9328D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16752							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCTGTGAGCCAGCTTTACA	0.408													T	179466820	C	T	179466820	3	4	257	1	0	0	0	0	1	0	0	0	16732	739	26	2	52831	2	TTN	2	179466820	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	33259	179466820	63732553	246	127178											
TTN	7273	broad.mit.edu	37	chr2	179566903	179566903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctacctcacctttcgtcGttaggtacagctctgccgtg	10	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179566903G>A	uc010zfg.1	-	105	26995	c.26771C>T	c.(26770-26772)ACG>ATG	p.T8924M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5585M|TTN_uc010fre.1_Missense_Mutation_p.T35M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9851							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCGTCGTTAGGTACAG	0.458													A	179566903	G	A	179566903	3	1	257	1	0	0	0	0	1	0	0	0	16732	1145	40	1	74046	1	TTN	2	179566903	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	100083	179566903	63632470	247	127179											
TTN	7273	broad.mit.edu	37	chr2	179650794	179650794	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagatgcccaggctctctGggctctctgactcgggcctg	12	14	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179650794G>T	uc010zfg.1	-	14	2375	c.2151C>A	c.(2149-2151)CCC>CCA	p.P717P	TTN_uc010zfh.1_Silent_p.P671P|TTN_uc010zfi.1_Silent_p.P671P|TTN_uc010zfj.1_Silent_p.P671P|TTN_uc002unb.2_Silent_p.P717P|TTN_uc010frg.1_Silent_p.P299P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	717							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGCTCTCTGGGCTCTCTGA	0.517													T	179650794	G	T	179650794	2	4	257	1	0	0	0	0	0	0	0	1	16732	1335	47	5		5	TTN	2	179650794	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	83891	179650794	63548579	248	127180											
TTN	7273	broad.mit.edu	37	chr2	179666974	179666974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggatcgtcagtttagcGcggccatcgctaaaggagat	15	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179666974G>A	uc002und.2	-	3	411	c.186C>T	c.(184-186)CGC>CGT	p.R62R	TTN_uc010zfg.1_Silent_p.R62R|TTN_uc010zfh.1_Silent_p.R62R|TTN_uc010zfi.1_Silent_p.R62R|TTN_uc010zfj.1_Silent_p.R62R|TTN_uc002unb.2_Silent_p.R62R			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	62							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTTTAGCGCGGCCATCGC	0.542													A	179666974	G	A	179666974	2	1	257	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179666974	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	16180	179666974	63532399	249	127181											
CCDC141	285025	broad.mit.edu	37	chr2	179734013	179734013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgattctttcataatgtacTgaacctcatcattcaattgc	4	10	5	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179734013T>C	uc002unf.1	-	5	557	c.500A>G	c.(499-501)CAG>CGG	p.Q167R		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	167							protein binding	p.Q167R(1)		ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATAATGTACTGAACCTCATC	0.328													C	179734013	T	C	179734013	3	2	257	1	0	0	0	0	1	0	0	0	2775	1580	55	3	2163	3	CCDC141	2	179734013	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	67039	179734013	63465360	250	127182											
ITGA4	3676	broad.mit.edu	37	chr2	182322503	182322503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgtggacactgagagcgCgctgctttaccagggccccc	12	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:182322503C>T	uc002unu.2	+	1	885	c.122C>T	c.(121-123)GCG>GTG	p.A41V	ITGA4_uc002unt.2_Missense_Mutation_p.A41V|ITGA4_uc010zfl.1_Missense_Mutation_p.A41V	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	41	FG-GAP 1.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACTGAGAGCGCGCTGCTTTAC	0.677													T	182322503	C	T	182322503	3	4	257	1	0	0	0	0	1	0	0	0	7878	768	27	1	124	1	ITGA4	2	182322503	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2588490	182322503	60876870	251	127183											
ITGA4	3676	broad.mit.edu	37	chr2	182360664	182360664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagttccaggttacattGgtgggtatgccctacaatat	11	7	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:182360664G>T	uc002unu.2	+	14	2303	c.1540G>T	c.(1540-1542)GTT>TTT	p.V514F	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	514	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGTTACATTGGTGGGTATGC	0.438													T	182360664	G	T	182360664	3	4	257	1	0	0	0	0	1	0	0	0	7878	1362	47	5	1594	5	ITGA4	2	182360664	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	38161	182360664	60838709	252	127184											
ZNF804A	91752	broad.mit.edu	37	chr2	185802533	185802533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccaagtacttcagttGctccctgcaagcctaaaaag	8	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:185802533G>A	uc002uph.2	+	4	3004	c.2410G>A	c.(2410-2412)GCT>ACT	p.A804T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	804						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TACTTCAGTTGCTCCCTGCAA	0.383													A	185802533	G	A	185802533	3	1	257	1	0	0	0	0	1	0	0	0	18167	1319	46	2	2424	2	ZNF804A	2	185802533	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3441869	185802533	57396840	253	127185											
ITGAV	3685	broad.mit.edu	37	chr2	187523819	187523819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttactatttttatggaatatCggttggattatagaacagct	8	4	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:187523819C>T	uc002upq.2	+	18	2050	c.1774C>T	c.(1774-1776)CGG>TGG	p.R592W	ITGAV_uc010frs.2_Missense_Mutation_p.R556W|ITGAV_uc010zfv.1_Missense_Mutation_p.R546W	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	592	Extracellular (Potential).				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			ovary(2)|kidney(1)|skin(1)	4			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)		TATGGAATATCGGTTGGATTA	0.368													T	187523819	C	T	187523819	3	4	257	1	0	0	0	0	1	0	0	0	7888	875	31	1	1895	1	ITGAV	2	187523819	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1721286	187523819	55675554	254	127186											
GULP1	51454	broad.mit.edu	37	chr2	189348173	189348173	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacaaaacatggatgcAtacacctgaagctttatcaa	7	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:189348173A>G	uc010fru.2	+	4	505	c.44A>G	c.(43-45)CAT>CGT	p.H15R	GULP1_uc002uqc.3_Missense_Mutation_p.H15R|GULP1_uc002uqd.2_Missense_Mutation_p.H15R|GULP1_uc010zfw.1_Missense_Mutation_p.H15R|GULP1_uc002uqe.2_Missense_Mutation_p.H15R|GULP1_uc002uqf.2_Missense_Mutation_p.H15R|GULP1_uc002uqg.2_Missense_Mutation_p.H15R	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	15					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ACATGGATGCATACACCTGAA	0.274													G	189348173	A	G	189348173	3	3	257	1	0	0	0	0	1	0	0	0	6901	217	8	3	50	3	GULP1	2	189348173	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1824354	189348173	53851200	255	127187											
SLC40A1	30061	broad.mit.edu	37	chr2	190430308	190430308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttaactggtcaatccttcGtattgtggcattcatatcta	8	8	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:190430308G>A	uc002uqp.3	-	6	883	c.532C>T	c.(532-534)CGA>TGA	p.R178*		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	178					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCAATCCTTCGTATTGTGGCA	0.463													A	190430308	G	A	190430308	4	1	257	1	0	0	0	0	0	1	0	0	14628	1153	40	1	1195	1	SLC40A1	2	190430308	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1082135	190430308	52769065	256	127188											
SDPR	8436	broad.mit.edu	37	chr2	192700907	192700907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagagcgctggcgagggaCgcttcggaatgaccctctgc	14	13	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:192700907C>T	uc002utb.2	-	2	1350	c.1020G>A	c.(1018-1020)GCG>GCA	p.A340A		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	340						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGGCGAGGGACGCTTCGGAAT	0.567													T	192700907	C	T	192700907	2	4	257	1	0	0	0	0	0	0	0	1	13970	523	19	1		1	SDPR	2	192700907	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2270599	192700907	50498466	257	127189											
SDPR	8436	broad.mit.edu	37	chr2	192711619	192711619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcagacccagggtgctgGaacttttcggcctgtgcagc	13	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:192711619G>A	uc002utb.2	-	1	363	c.33C>T	c.(31-33)TTC>TTT	p.F11F		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	11						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CAGGGTGCTGGAACTTTTCGG	0.612													A	192711619	G	A	192711619	2	1	257	1	0	0	0	0	0	0	0	1	13970	1165	41	4		4	SDPR	2	192711619	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	10712	192711619	50487754	258	127190											
CCDC150	284992	broad.mit.edu	37	chr2	197597197	197597197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaaacatgatgtcatgTccaaccaatctgttctgcat	6	9	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:197597197T>C	uc002utp.1	+	28	3352	c.3217T>C	c.(3217-3219)TCC>CCC	p.S1073P	CCDC150_uc010zgs.1_Missense_Mutation_p.S720P	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1073											0						TGATGTCATGTCCAACCAATC	0.443													C	197597197	T	C	197597197	3	2	257	1	0	0	0	0	1	0	0	0	2785	1667	58	3	3327	3	CCDC150	2	197597197	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4885578	197597197	45602176	259	127191											
C2orf66	401027	broad.mit.edu	37	chr2	197672223	197672223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcataatctgcagatgCagaagcagtaagttctgact	8	9	4	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:197672223C>T	uc002utv.2	-	2	1187	c.298G>A	c.(298-300)GCA>ACA	p.A100T		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	100						extracellular region					0						TCTGCAGATGCAGAAGCAGTA	0.408													T	197672223	C	T	197672223	3	4	257	1	0	0	0	0	1	0	0	0	2185	710	25	2	59	2	C2orf66	2	197672223	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	75026	197672223	45527150	260	127192											
ANKRD44	91526	broad.mit.edu	37	chr2	197860118	197860119	+	Frame_Shift_Ins	INS	-	-	T													ttacgtctgcagtgcattatINSttttttcattaataaggctc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:197860117_197860118A>AT	uc021vuj.1	-	25	3009_3010	c.2816_2817T>AT	c.(2815-2817)aatfs	p.N939fs	ANKRD44_uc002utz.4_Frame_Shift_Ins_p.N646fs|ANKRD44_uc021vuk.1_Frame_Shift_Ins_p.N914fs	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	939							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)			GCAGTGCATTATTTTTTTCATT	0.351													T	197860119	-	T	197860118	7	5	257	1	0	1	1	0	0	0	0	0	672	1493	52	0	22	0	ANKRD44	2	197860118	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	187895	197860118	45339255	261	127193											
RFTN2	130132	broad.mit.edu	37	chr2	198498533	198498533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagttcttcctcaattccGctttcagatgactgcccact	6	13	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:198498533G>A	uc002uuo.3	-	4	1029	c.627C>T	c.(625-627)AGC>AGT	p.S209S		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	209						plasma membrane					0						CCTCAATTCCGCTTTCAGATG	0.413													A	198498533	G	A	198498533	2	1	257	1	0	0	0	0	0	0	0	1	13259	1078	38	1		1	RFTN2	2	198498533	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	638415	198498533	44700840	262	127194											
FAM126B	285172	broad.mit.edu	37	chr2	201846041	201846041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttggggatcgagactgCttggtcaagggggctcctgg	16	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:201846041C>T	uc002uws.3	-	12	1733	c.1545G>A	c.(1543-1545)AAG>AAA	p.K515K	FAM126B_uc002uwu.2_Silent_p.K489K|FAM126B_uc002uwv.2_Silent_p.K515K	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	515						intracellular				ovary(1)	1						ATCGAGACTGCTTGGTCAAGG	0.473													T	201846041	C	T	201846041	2	4	257	1	0	0	0	0	0	0	0	1	5430	796	28	2		2	FAM126B	2	201846041	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3347508	201846041	41353332	263	127195											
CASP8	841	broad.mit.edu	37	chr2	202149961	202149962	+	Frame_Shift_Del	DEL	TG	TG	-													ggatggccactgtgaataacTgtgtttcctaccgaaaccct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:202149960_202149961CTG>C	uc002uxr.1	+	8	1433_1434	c.1224_1225CTG>C	c.(1222-1227)aactgtfs	p.N408fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.N393fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.N425fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.N467fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.N393fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.N324fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	408					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						CTGTGAATAACTGTGTTTCCTA	0.495										HNSCC(4;0.00038)			-	202149962	TG	-	202149961	7	5	257	1	0	1	0	1	0	0	0	0	2677	1580	55	0	1532	0	CASP8	2	202149961	Frame_Shift_Del	DEL	TG	TCGA-HU-8602-01A-11D-2394-08	303920	202149961	41049412	264	127196											
ABI2	10152	broad.mit.edu	37	chr2	204267367	204267367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccaacaatagggggcTcgttgccctatagacgccct	9	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:204267367T>A	uc002vaa.2	+	9	1337	c.1102T>A	c.(1102-1104)TCG>ACG	p.S368T	ABI2_uc002uzz.2_Missense_Mutation_p.S301T|ABI2_uc010zih.1_Missense_Mutation_p.S16T|ABI2_uc010zii.1_Missense_Mutation_p.S362T|ABI2_uc010zij.1_Missense_Mutation_p.S245T|ABI2_uc002vab.2_Missense_Mutation_p.S256T|ABI2_uc010zik.1_Missense_Mutation_p.S93T|ABI2_uc010zil.1_Missense_Mutation_p.S203T|ABI2_uc010zim.1_Missense_Mutation_p.S154T|ABI2_uc002vac.2_Missense_Mutation_p.S154T|ABI2_uc010zin.1_Missense_Mutation_p.S16T	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	368	Pro-rich.				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				0						AATAGGGGGCTCGTTGCCCTA	0.443													A	204267367	T	A	204267367	3	1	257	1	0	0	0	0	1	0	0	0	89	1551	54	5	927	5	ABI2	2	204267367	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2117406	204267367	38932006	265	127197											
ZDBF2	57683	broad.mit.edu	37	chr2	207169506	207169506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggtgcatttggatgatgCtttttctgaagaagaggaag	14	3	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:207169506C>A	uc002vbp.2	+	5	504	c.254C>A	c.(253-255)GCT>GAT	p.A85D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	85							nucleic acid binding|zinc ion binding			ovary(3)	3						TTGGATGATGCTTTTTCTGAA	0.423													A	207169506	C	A	207169506	3	1	257	1	0	0	0	0	1	0	0	0	17596	797	28	5	264	5	ZDBF2	2	207169506	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2902139	207169506	36029867	266	127198											
ADAM23	8745	broad.mit.edu	37	chr2	207436508	207436508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacggggctcactgcagcGacgggccctgctgtaacaat	12	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:207436508G>A	uc002vbq.2	+	17	1847	c.1624G>A	c.(1624-1626)GAC>AAC	p.D542N	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	542	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCACTGCAGCGACGGGCCCTG	0.443													A	207436508	G	A	207436508	3	1	257	1	0	0	0	0	1	0	0	0	245	1058	37	1	1690	1	ADAM23	2	207436508	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	267002	207436508	35762865	267	127199											
PTH2R	5746	broad.mit.edu	37	chr2	209308074	209308074	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatatttctctccgtagaCgattgcattgcactaggaac	8	9	1	2	rs149710383		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:209308074C>T	uc002vdb.2	+	6	724	c.511C>T	c.(511-513)CGA>TGA	p.R171*	PTH2R_uc010zjb.1_Nonsense_Mutation_p.R182*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	171	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTCCGTAGACGATTGCATTG	0.433													T	209308074	C	T	209308074	4	4	257	1	0	0	0	0	0	1	0	0	12760	550	19	1	533	1	PTH2R	2	209308074	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1871566	209308074	33891299	268	127200											
SPAG16	79582	broad.mit.edu	37	chr2	214727284	214727284	+	Frame_Shift_Del	DEL	A	A	-													tggaaggtgttgggccttccAaaatgcaatgtgcttctcac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:214727283_214727283CA>C	uc002veq.3	+	10	1237	c.1145_1145CA>C	c.(1144-1146)ccafs	p.P382fs	SPAG16_uc010fuz.2_Frame_Shift_Del_p.P233fs|SPAG16_uc002ver.3_Frame_Shift_Del_p.P328fs|SPAG16_uc010zjk.2_Frame_Shift_Del_p.P288fs	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	382					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)		TTGGGCCTTCCAAAATGCAAT	0.527													-	214727284	A	-	214727284	7	5	257	1	0	1	0	1	0	0	0	0	14978	117	5	0	1204	0	SPAG16	2	214727284	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	5419210	214727284	28472089	269	127201											
VWC2L	402117	broad.mit.edu	37	chr2	215279080	215279080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgagggaaagggtgtgtcGatgacagcggctttgtatac	15	6	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:215279080G>A	uc002vet.2	+	2	293	c.163G>A	c.(163-165)GAT>AAT	p.D55N	VWC2L_uc010zjl.1_Missense_Mutation_p.D55N	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	55	VWFC 1.					extracellular region					0						AGGGTGTGTCGATGACAGCGG	0.473													A	215279080	G	A	215279080	3	1	257	1	0	0	0	0	1	0	0	0	17241	1058	37	1	165	1	VWC2L	2	215279080	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	551796	215279080	27920293	270	127202											
ABCA12	26154	broad.mit.edu	37	chr2	215843555	215843555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtggtatctgaaatgccGtagcacccgatgttgaggtc	13	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:215843555G>A	uc002vew.2	-	32	5170	c.4950C>T	c.(4948-4950)TAC>TAT	p.Y1650Y	ABCA12_uc002vev.2_Silent_p.Y1332Y|ABCA12_uc010zjn.1_Silent_p.Y577Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1650					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		CTGAAATGCCGTAGCACCCGA	0.458													A	215843555	G	A	215843555	2	1	257	1	0	0	0	0	0	0	0	1	30	1140	40	1		1	ABCA12	2	215843555	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	564475	215843555	27355818	271	127203											
SMARCAL1	50485	broad.mit.edu	37	chr2	217280119	217280119	+	Frame_Shift_Del	DEL	A	A	-													gaagtcagggtcctcagtccAaaaaggagtgaactctcaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:217280118_217280118CA>C	uc002vgc.4	+	2	1021	c.691_691CA>C	c.(691-693)caafs	p.Q231fs	SMARCAL1_uc002vgd.4_Frame_Shift_Del_p.Q231fs|SMARCAL1_uc010fvg.3_Frame_Shift_Del_p.Q231fs	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	231					DNA metabolic process|chromatin modification|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)		GTCCTCAGTCCAAAAAGGAGT	0.498									Schimke Immuno-Osseous Dysplasia				-	217280119	A	-	217280119	7	5	257	1	0	1	0	1	0	0	0	0	14773	130	5	0	694	0	SMARCAL1	2	217280119	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1436564	217280119	25919254	272	127204											
TNS1	7145	broad.mit.edu	37	chr2	218713378	218713378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggatgtctgtctccCgctcagatgctaacgcccca	9	16	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:218713378C>T	uc002vgt.2	-	17	1885	c.1487G>A	c.(1486-1488)CGG>CAG	p.R496Q	TNS1_uc002vgr.2_Missense_Mutation_p.R496Q|TNS1_uc002vgs.2_Missense_Mutation_p.R496Q|TNS1_uc010zjv.1_Missense_Mutation_p.R496Q|TNS1_uc010fvj.1_Missense_Mutation_p.R564Q|TNS1_uc010fvk.1_Missense_Mutation_p.R621Q|TNS1_uc010fvi.1_Missense_Mutation_p.R183Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	496						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		GTCTGTCTCCCGCTCAGATGC	0.617													T	218713378	C	T	218713378	3	4	257	1	0	0	0	0	1	0	0	0	16340	652	23	1	3788	1	TNS1	2	218713378	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1433259	218713378	24485995	273	127205											
CXCR1	3577	broad.mit.edu	37	chr2	219029505	219029505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcttctgggtcagtgtgcGtgtggcatggacaatggcca	15	9	2	0	rs111741549	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219029505G>A	uc002vhc.2	-	2	549	c.430C>T	c.(430-432)CGC>TGC	p.R144C		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	144	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						GTCAGTGTGCGTGTGGCATGG	0.542													A	219029505	G	A	219029505	3	1	257	1	0	0	0	0	1	0	0	0	4090	1145	40	1	626	1	CXCR1	2	219029505	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	316127	219029505	24169868	274	127206											
PNKD	25953	broad.mit.edu	37	chr2	219209550	219209550	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatctaccctgggagAggagcgctcctacaacccgt	11	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219209550A>G	uc002vhn.2	+	10	1148	c.1004A>G	c.(1003-1005)GAG>GGG	p.E335G	PNKD_uc002vhq.2_Missense_Mutation_p.E311G	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	335						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		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)		ACCCTGGGAGAGGAGCGCTCC	0.642													G	219209550	A	G	219209550	3	3	257	1	0	0	0	0	1	0	0	0	12146	304	11	3	1407	3	PNKD	2	219209550	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	180045	219209550	23989823	275	127207											
SLC11A1	6556	broad.mit.edu	37	chr2	219251369	219251369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccataggtgccccgcacCgtcctctggctgaccatcga	9	18	1	1	rs145880987		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219251369C>T	uc002vhv.2	+	5	745	c.405C>T	c.(403-405)ACC>ACT	p.T135T	SLC11A1_uc010zkb.1_Missense_Mutation_p.P160L|SLC11A1_uc010fvp.1_Silent_p.T135T|SLC11A1_uc010fvq.1_Silent_p.T68T|SLC11A1_uc010zkc.1_Silent_p.T68T|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Silent_p.T17T|SLC11A1_uc010fvr.2_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	135	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)	4		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)		TGCCCCGCACCGTCCTCTGGC	0.552													T	219251369	C	T	219251369	2	4	257	1	0	0	0	0	0	0	0	1	14380	639	23	1		1	SLC11A1	2	219251369	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	41819	219251369	23948004	276	127208											
VIL1	7429	broad.mit.edu	37	chr2	219295597	219295597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacccacactgtgggctcCgtgggtgagggccaggcggg	17	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219295597C>T	uc002via.2	+	10	1163	c.1098C>T	c.(1096-1098)TCC>TCT	p.S366S	VIL1_uc010zke.1_Silent_p.S55S|VIL1_uc002vib.2_Silent_p.S366S|VIL1_uc002vic.1_Silent_p.S366S	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	366	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			ovary(1)	1		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)		CTGTGGGCTCCGTGGGTGAGG	0.642													T	219295597	C	T	219295597	2	4	257	1	0	0	0	0	0	0	0	1	17161	639	23	1		1	VIL1	2	219295597	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	44228	219295597	23903776	277	127209											
ZNF142	7701	broad.mit.edu	37	chr2	219509452	219509452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccaggtacatagccaTgggccttgcgtttatggaac	12	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219509452T>C	uc002vin.2	-	8	2223	c.1787A>G	c.(1786-1788)CAT>CGT	p.H596R	ZNF142_uc002vil.2_Missense_Mutation_p.H557R|ZNF142_uc010fvt.2_Missense_Mutation_p.H433R|ZNF142_uc002vim.2_Missense_Mutation_p.H433R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	596	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		TACATAGCCATGGGCCTTGCG	0.597													C	219509452	T	C	219509452	3	2	257	1	0	0	0	0	1	0	0	0	17728	1464	51	3	3288	3	ZNF142	2	219509452	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	213855	219509452	23689921	278	127210											
CCDC108	255101	broad.mit.edu	37	chr2	219868992	219868992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggtctgtcttccttcGgctgcttgcccttcccatcc	8	17	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219868992G>A	uc002vjl.1	-	33	5321	c.5237C>T	c.(5236-5238)CCG>CTG	p.P1746L	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1746						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		GTCTTCCTTCGGCTGCTTGCC	0.368													A	219868992	G	A	219868992	3	1	257	1	0	0	0	0	1	0	0	0	2743	1116	39	1	552	1	CCDC108	2	219868992	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	359540	219868992	23330381	279	127211											
SPEG	10290	broad.mit.edu	37	chr2	220326765	220326765	+	Frame_Shift_Del	DEL	C	C	-													ctgacactggctccaaggcaCcccccaccttcaaggtcaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:220326764_220326764AC>A	uc010fwg.3	+	6	2601	c.2601_2601AC>A	c.(2599-2601)gcafs	p.A867fs	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Frame_Shift_Del_p.A75fs|SPEG_uc002vln.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlp.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlq.3_Frame_Shift_Del_p.A18fs	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	867					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)		GCTCCAAGGCACCCCCCACCT	0.652													-	220326765	C	-	220326765	7	5	257	1	0	1	0	1	0	0	0	0	15035	507	18	0	2628	0	SPEG	2	220326765	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	457773	220326765	22872608	280	127212											
OBSL1	23363	broad.mit.edu	37	chr2	220416499	220416499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcgcgaggggggtggCggcacatctggagaggcaat	17	9	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:220416499C>T	uc010fwk.2	-	20	5492	c.5435G>A	c.(5434-5436)CGC>CAC	p.R1812H	hsa-mir-3132|MI0014152_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1812	Ig-like 14.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		AGGGGGGTGGCGGCACATCTG	0.682													T	220416499	C	T	220416499	3	4	257	1	0	0	0	0	1	0	0	0	10813	768	27	1	263	1	OBSL1	2	220416499	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	89734	220416499	22782874	281	127213											
OBSL1	23363	broad.mit.edu	37	chr2	220432923	220432923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgcggcagggcagcagcCgctggtcctcacggaaccag	14	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:220432923C>T	uc010fwk.2	-	2	1193	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R379Q|OBSL1_uc002vmj.2_5'UTR	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	379	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		GGGCAGCAGCCGCTGGTCCTC	0.627											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	220432923	C	T	220432923	3	4	257	1	0	0	0	0	1	0	0	0	10813	652	23	1	4786	1	OBSL1	2	220432923	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	16424	220432923	22766450	282	127214											
DOCK10	55619	broad.mit.edu	37	chr2	225638013	225638013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggattcagttctgtgctcGattggctaattacttgtatt	9	6	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:225638013G>A	uc010fwz.1	-	53	6304	c.6065C>T	c.(6064-6066)TCG>TTG	p.S2022L	DOCK10_uc002vob.2_Missense_Mutation_p.S2016L|DOCK10_uc002voa.2_Missense_Mutation_p.S678L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2022	DHR-2.						GTP binding			ovary(2)	2		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)		TTCTGTGCTCGATTGGCTAAT	0.423													A	225638013	G	A	225638013	3	1	257	1	0	0	0	0	1	0	0	0	4685	1059	37	1	511	1	DOCK10	2	225638013	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5205090	225638013	17561360	283	127215											
SP140	11262	broad.mit.edu	37	chr2	231120198	231120198	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgttcggaaatgtgtgaTggagaagagcgccaggaagc	16	6	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:231120198T>C	uc002vql.2	+	12	1306	c.1191T>C	c.(1189-1191)GAT>GAC	p.D397D	SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.D363D|SP140_uc002vqn.2_Silent_p.D283D|SP140_uc002vqm.2_Silent_p.D337D|SP140_uc010fxl.2_Intron	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	397					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		AAATGTGTGATGGAGAAGAGC	0.527													C	231120198	T	C	231120198	2	2	257	1	0	0	0	0	0	0	0	1	14962	1461	51	3		3	SP140	2	231120198	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	5482185	231120198	12079175	284	127216											
DGKD	8527	broad.mit.edu	37	chr2	234365952	234365952	+	Frame_Shift_Del	DEL	G	G	-													tgccggaggaaccaacttctGggggggtaccaaggaagatg					rs35538077		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:234365951_234365951TG>T	uc002vui.1	+	20	2569	c.2557_2557TG>T	c.(2557-2559)tggfs	p.W853fs	DGKD_uc002vuj.1_Frame_Shift_Del_p.W809fs|DGKD_uc010fyh.1_Frame_Shift_Del_p.W720fs|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	853					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)	AACCAACTTCTGGGGGGGTAC	0.577													-	234365952	G	-	234365952	7	5	257	1	0	1	0	1	0	0	0	0	4467	1357	47	0	2664	0	DGKD	2	234365952	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	3245754	234365952	8833421	285	127217											
HDAC4	9759	broad.mit.edu	37	chr2	240066299	240066299	+	Frame_Shift_Del	DEL	T	T	-													ctgtgacatccaacggacgcTtttttagagcagtgaccact							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:240066298_240066298CT>C	uc002vyk.4	-	7	1638	c.846_846AG>G	c.(844-846)aagfs	p.K282fs	HDAC4_uc010fyz.1_Frame_Shift_Del_p.K277fs|HDAC4_uc010zoa.1_Frame_Shift_Del_p.K277fs|HDAC4_uc010fza.2_Frame_Shift_Del_p.K282fs|HDAC4_uc010fyy.3_Frame_Shift_Del_p.K234fs|HDAC4_uc010znz.1_Frame_Shift_Del_p.K165fs|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	282	Interaction with MEF2A.				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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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)		CCAACGGACGCTTTTTTAGAG	0.572													-	240066299	T	-	240066299	7	5	257	1	0	1	0	1	0	0	0	0	7009	1609	56	0	2489	0	HDAC4	2	240066299	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	5700347	240066299	3133074	286	127218											
HDAC4	9759	broad.mit.edu	37	chr2	240078381	240078381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggaagtcatctttggcgtCgtacattcccaggaccgggt	13	10	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:240078381C>T	uc002vyk.3	-	7	1492	c.700G>A	c.(700-702)GAC>AAC	p.D234N	HDAC4_uc010fyz.1_Missense_Mutation_p.D229N|HDAC4_uc010zoa.1_Missense_Mutation_p.D229N|HDAC4_uc010fza.2_Missense_Mutation_p.D234N|HDAC4_uc010fyy.2_Missense_Mutation_p.D186N|HDAC4_uc010znz.1_Missense_Mutation_p.D117N|HDAC4_uc010fzb.1_5'Flank	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	234	Interaction with MEF2A.				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			breast(3)|skin(2)|ovary(1)	6		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)		TCTTTGGCGTCGTACATTCCC	0.592													T	240078381	C	T	240078381	3	4	257	1	0	0	0	0	1	0	0	0	7009	884	31	1	2638	1	HDAC4	2	240078381	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	12082	240078381	3120992	287	127219											
OR6B3	150681	broad.mit.edu	37	chr2	240984767	240984767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacggtgaggtgagaggcGcaggtgaagaaggctctcca	16	9	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:240984767G>A	uc010zoe.1	-	1	723	c.723C>T	c.(721-723)TGC>TGT	p.C241C	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		GGTGAGAGGCGCAGGTGAAGA	0.587													A	240984767	G	A	240984767	2	1	257	1	0	0	0	0	0	0	0	1	11189	1079	38	1		1	OR6B3	2	240984767	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	906386	240984767	2214606	288	127220											
PASK	23178	broad.mit.edu	37	chr2	242047655	242047655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaaggggttctcctcAaagaccagcgtgtacagagt	11	10	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:242047655A>G	uc002wao.1	-	16	3686	c.3594T>C	c.(3592-3594)TTT>TTC	p.F1198F	PASK_uc010zol.1_Silent_p.F1012F|PASK_uc010zom.1_Silent_p.F1163F|PASK_uc010fzl.1_Silent_p.F1205F|PASK_uc010zon.1_Silent_p.F979F	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1198	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		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)		GGTTCTCCTCAAAGACCAGCG	0.597													G	242047655	A	G	242047655	2	3	257	1	0	0	0	0	0	0	0	1	11472	127	5	3		3	PASK	2	242047655	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1062888	242047655	1151718	289	127221											
ANO7	50636	broad.mit.edu	37	chr2	242128052	242128052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctgccactgcctgggCggggctccaagggccacccc	14	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:242128052C>T	uc002wax.2	+	1	129	c.26C>T	c.(25-27)GCG>GTG	p.A9V	ANO7_uc002waw.2_Missense_Mutation_p.A9V	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	9	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						ACTGCCTGGGCGGGGCTCCAA	0.682													T	242128052	C	T	242128052	3	4	257	1	0	0	0	0	1	0	0	0	702	768	27	1	28	1	ANO7	2	242128052	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	80397	242128052	1071321	290	127222											
CHL1	10752	broad.mit.edu	37	chr3	382479	382479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgattttttacaccaggtGttccaaaattcccaaaagaa	5	8	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:382479G>A	uc003bou.2	+	6	659	c.388G>A	c.(388-390)GTT>ATT	p.V130I	CHL1_uc003bot.2_Missense_Mutation_p.V130I|CHL1_uc003bow.1_Missense_Mutation_p.V130I|CHL1_uc011asi.1_Missense_Mutation_p.V130I	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	130	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		TACACCAGGTGTTCCAAAATT	0.333													A	382479	G	A	382479	3	1	257	1	0	0	0	0	1	0	0	0	3349	1377	48	4	402	4	CHL1	3	382479	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08		382479	197639951	291	127223											
CNTN6	27255	broad.mit.edu	37	chr3	1444070	1444070	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacaatacatcagctgagctTctggttccatttgaagaaga	8	8	2	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:1444070T>A	uc003boz.2	+	22	3153	c.2886T>A	c.(2884-2886)CTT>CTA	p.L962L	CNTN6_uc011asj.1_Silent_p.L890L|CNTN6_uc003bpa.2_Silent_p.L962L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	962	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		CAGCTGAGCTTCTGGTTCCAT	0.363													A	1444070	T	A	1444070	2	1	257	1	0	0	0	0	0	0	0	1	3645	1770	62	5		5	CNTN6	3	1444070	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1061591	1444070	196578360	292	127224											
LMCD1	29995	broad.mit.edu	37	chr3	8579008	8579008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggtgaaaggcggggacgGcatccggatttacaagagga	17	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:8579008G>A	uc003bqq.2	+	3	383	c.269G>A	c.(268-270)GGC>GAC	p.G90D	LMCD1_uc011atd.1_Missense_Mutation_p.G17D|LMCD1_uc011ate.1_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.G17D	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	90					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGCGGGGACGGCATCCGGATT	0.532													A	8579008	G	A	8579008	3	1	257	1	0	0	0	0	1	0	0	0	8844	1203	42	2	279	2	LMCD1	3	8579008	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7134938	8579008	189443422	293	127225											
OXTR	5021	broad.mit.edu	37	chr3	8809681	8809681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttctggcgtgtggtgcGcagcgccagcagcacacacg	15	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:8809681G>A	uc003brc.2	-	3	815	c.193C>T	c.(193-195)CGC>TGC	p.R65C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	65	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CGTGTGGTGCGCAGCGCCAGC	0.662													A	8809681	G	A	8809681	3	1	257	1	0	0	0	0	1	0	0	0	11338	1087	38	1	984	1	OXTR	3	8809681	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	230673	8809681	189212749	294	127226											
TTLL3	26140	broad.mit.edu	37	chr3	9855027	9855027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatggaacacatgctctgAtggtgagggccctgggggcc	16	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:9855027A>G	uc003btg.2	+	4	529	c.313A>G	c.(313-315)ATG>GTG	p.M105V	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.M105V|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_5'UTR|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_5'Flank	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	105					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					ACATGCTCTGATGGTGAGGGC	0.423													G	9855027	A	G	9855027	3	3	257	1	0	0	0	0	1	0	0	0	16725	333	12	3	323	3	TTLL3	3	9855027	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1045346	9855027	188167403	295	127227											
CAND2	23066	broad.mit.edu	37	chr3	12859303	12859303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacccggggggtggtggccGagtgcattgggaagctggtc	20	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:12859303G>A	uc003bxk.2	+	10	2921	c.2872G>A	c.(2872-2874)GAG>AAG	p.E958K	CAND2_uc003bxj.2_Missense_Mutation_p.E865K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	958	HEAT 20.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						GGTGGTGGCCGAGTGCATTGG	0.657													A	12859303	G	A	12859303	3	1	257	1	0	0	0	0	1	0	0	0	2616	1059	37	1	2910	1	CAND2	3	12859303	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3004276	12859303	185163127	296	127228											
CAND2	23066	broad.mit.edu	37	chr3	12872989	12872989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttcatcatggttgcccGgctggccaccctgtgtcctg	11	15	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:12872989G>A	uc003bxk.2	+	14	3450	c.3401G>A	c.(3400-3402)CGG>CAG	p.R1134Q	CAND2_uc003bxj.2_Missense_Mutation_p.R1017Q	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1134	HEAT 24.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						ATGGTTGCCCGGCTGGCCACC	0.597													A	12872989	G	A	12872989	3	1	257	1	0	0	0	0	1	0	0	0	2616	1116	39	1	3455	1	CAND2	3	12872989	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	13686	12872989	185149441	297	127229											
KCNH8	131096	broad.mit.edu	37	chr3	19295379	19295379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgttctacaagaaaaacGgtgagttggctttctttcgt	9	6	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:19295379G>A	uc003cbk.1	+	2	505	c.310G>A	c.(310-312)GGG>AGG	p.G104R	KCNH8_uc011awe.1_Missense_Mutation_p.G104R|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	104	PAC.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CAAGAAAAACGGTGAGTTGGC	0.413													A	19295379	G	A	19295379	3	1	257	1	0	0	0	0	1	0	0	0	8038	1130	39	1	316	1	KCNH8	3	19295379	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6422390	19295379	178727051	298	127230											
ZNF385D	79750	broad.mit.edu	37	chr3	21478597	21478598	+	Frame_Shift_Ins	INS	-	-	T													ccagtggctgtcgttgggctINStttttccactttagaggtga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:21478596_21478597C>CT	uc003cce.3	-	4	946_947	c.538_539G>AG	c.(538-540)agcfs	p.S180fs	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	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						TGTCGTTGGGCTTTTTTCCACT	0.475													T	21478598	-	T	21478597	7	5	257	1	0	1	1	0	0	0	0	0	17875	1609	56	0	665	0	ZNF385D	3	21478597	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2183218	21478597	176543833	299	127231											
TRANK1	9881	broad.mit.edu	37	chr3	36873742	36873742	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccaatgctggggatgagTggttctttgcacctcttgat	11	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:36873742T>C	uc003cgj.2	-	12	5852	c.5550A>G	c.(5548-5550)CCA>CCG	p.P1850P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2400					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGGGGATGAGTGGTTCTTTGC	0.488													C	36873742	T	C	36873742	2	2	257	1	0	0	0	0	0	0	0	1	16451	1683	59	3		3	TRANK1	3	36873742	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	15395145	36873742	161148688	300	127232											
DLEC1	9940	broad.mit.edu	37	chr3	38080825	38080825	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccgggtccagcagccccAgccagcccacctggaagtcc	11	19	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:38080825A>G	uc003cho.1	+	1	130	c.109A>G	c.(109-111)AGC>GGC	p.S37G	DLEC1_uc003chp.1_Missense_Mutation_p.S37G|DLEC1_uc010hgv.1_Missense_Mutation_p.S37G	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	37					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGCAGCCCCAGCCAGCCCAC	0.657													G	38080825	A	G	38080825	3	3	257	1	0	0	0	0	1	0	0	0	4552	188	7	3	111	3	DLEC1	3	38080825	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1207083	38080825	159941605	301	127233											
SCN11A	11280	broad.mit.edu	37	chr3	38913774	38913774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattaagttaatgagggtGgtcacagagacctgatggga	13	6	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:38913774G>A	uc011ays.1	-	20	3604	c.3405C>T	c.(3403-3405)ACC>ACT	p.T1135T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1135	III.|Helical; Name=S3 of repeat III; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAATGAGGGTGGTCACAGAGA	0.478													A	38913774	G	A	38913774	2	1	257	1	0	0	0	0	0	0	0	1	13913	1335	47	4		4	SCN11A	3	38913774	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	832949	38913774	159108656	302	127234											
TTC21A	199223	broad.mit.edu	37	chr3	39177852	39177852	+	Frame_Shift_Del	DEL	T	T	-													ctgtctcttattttagacaaTtttttggtattgcataaatt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39177851_39177851AT>A	uc003cjc.2	+	22	3146	c.2969_2969AT>A	c.(2968-2970)aatfs	p.N990fs	TTC21A_uc011ayx.1_Frame_Shift_Del_p.N942fs|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Frame_Shift_Del_p.N111fs	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	990							binding	p.P989T(1)|p.P989Q(1)|p.P989K(1)		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)		ATTTTAGACAATTTTTTGGTA	0.438													-	39177852	T	-	39177852	7	5	257	1	0	1	0	1	0	0	0	0	16684	1490	52	0	3063	0	TTC21A	3	39177852	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	264078	39177852	158844578	303	127235											
XIRP1	165904	broad.mit.edu	37	chr3	39226759	39226759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaagctgggctggctatgtCcactgggacatctggccaga	14	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39226759C>T	uc003cjk.1	-	2	4399	c.4178G>A	c.(4177-4179)GGA>GAA	p.G1393E	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.G76E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1393							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGCTATGTCCACTGGGACA	0.602													T	39226759	C	T	39226759	3	4	257	1	0	0	0	0	1	0	0	0	17426	855	30	4	1357	4	XIRP1	3	39226759	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	48907	39226759	158795671	304	127236											
XIRP1	165904	broad.mit.edu	37	chr3	39227402	39227402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctccctggagtgggcGgggagcctggactgagaggg	21	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39227402G>A	uc003cjk.1	-	2	3756	c.3535C>T	c.(3535-3537)CGC>TGC	p.R1179C	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1179							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGAGTGGGCGGGGAGCCTGG	0.672													A	39227402	G	A	39227402	3	1	257	1	0	0	0	0	1	0	0	0	17426	1116	39	1	2000	1	XIRP1	3	39227402	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	643	39227402	158795028	305	127237											
XIRP1	165904	broad.mit.edu	37	chr3	39229837	39229837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcctccttgggtgggGcctctgctccagcctcttcg	10	17	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39229837G>A	uc003cjk.1	-	2	1321	c.1100C>T	c.(1099-1101)GCC>GTC	p.A367V	XIRP1_uc003cji.2_Missense_Mutation_p.A367V|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	367							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTGGGTGGGGCCTCTGCTCC	0.577													A	39229837	G	A	39229837	3	1	257	1	0	0	0	0	1	0	0	0	17426	1203	42	2	4435	2	XIRP1	3	39229837	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2435	39229837	158792593	306	127238											
CCR8	1237	broad.mit.edu	37	chr3	39374056	39374056	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatacctcttgaacctggcCctgtctgacctgctttttgt	8	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39374056C>A	uc010hhr.2	+	2	372	c.234C>A	c.(232-234)GCC>GCA	p.A78A	CCR8_uc003cjm.2_Intron	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	78	Helical; Name=2; (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGAACCTGGCCCTGTCTGACC	0.498													A	39374056	C	A	39374056	2	1	257	1	0	0	0	0	0	0	0	1	2947	610	22	5		5	CCR8	3	39374056	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	144219	39374056	158648374	307	127239											
CTNNB1	1499	broad.mit.edu	37	chr3	41266654	41266654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgcagaacttgccacaCgtgcaatccctgaactgaca	8	12	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:41266654C>T	uc010hia.1	+	5	607	c.451C>T	c.(451-453)CGT>TGT	p.R151C	CTNNB1_uc003ckp.2_Missense_Mutation_p.R151C|CTNNB1_uc003ckq.2_Missense_Mutation_p.R151C|CTNNB1_uc003ckr.2_Missense_Mutation_p.R151C|CTNNB1_uc011azf.1_Missense_Mutation_p.R144C|CTNNB1_uc011azg.1_Missense_Mutation_p.R79C|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	151	ARM 1.				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.A20_R151del(1)|p.A13_R151del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				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				T	41266654	C	T	41266654	3	4	257	1	0	0	0	0	1	0	0	0	4016	536	19	1	461	1	CTNNB1	3	41266654	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1892598	41266654	156755776	308	127240											
CTNNB1	1499	broad.mit.edu	37	chr3	41275088	41275088	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgatataaatgtggtcacCtgtgcagctggaattctttc	10	7	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:41275088C>A	uc010hia.1	+	10	1410	c.1254C>A	c.(1252-1254)ACC>ACA	p.T418T	CTNNB1_uc003ckp.2_Silent_p.T418T|CTNNB1_uc003ckq.2_Silent_p.T418T|CTNNB1_uc003ckr.2_Silent_p.T418T|CTNNB1_uc011azf.1_Silent_p.T411T|CTNNB1_uc011azg.1_Silent_p.T346T|CTNNB1_uc003cks.2_Silent_p.T21T|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	418	ARM 7.				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)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ATGTGGTCACCTGTGCAGCTG	0.443		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41275088	C	A	41275088	2	1	257	1	0	0	0	0	0	0	0	1	4016	668	24	5		5	CTNNB1	3	41275088	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8434	41275088	156747342	309	127241											
HHATL	57467	broad.mit.edu	37	chr3	42735237	42735237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccacagtgtggtgatggCaaatgtggccactgtggctg	15	8	0	1	rs149595115		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:42735237C>T	uc003clw.2	-	11	1267	c.1120G>A	c.(1120-1122)GCC>ACC	p.A374T	HHATL_uc003clx.2_Missense_Mutation_p.A374T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	374					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GTGGTGATGGCAAATGTGGCC	0.522													T	42735237	C	T	42735237	3	4	257	1	0	0	0	0	1	0	0	0	7090	710	25	2	406	2	HHATL	3	42735237	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1460149	42735237	155287193	310	127242											
ZNF445	353274	broad.mit.edu	37	chr3	44489074	44489074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaattctctggtggtcaaCgagagttttctttctagtaa	10	6	4	2	rs146656660		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:44489074C>T	uc003cnf.2	-	8	2437	c.2089G>A	c.(2089-2091)GTT>ATT	p.V697I	ZNF445_uc011azv.1_Missense_Mutation_p.V685I|ZNF445_uc011azw.1_Missense_Mutation_p.V697I	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	697	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGGTGGTCAACGAGAGTTTTC	0.463													T	44489074	C	T	44489074	3	4	257	1	0	0	0	0	1	0	0	0	17915	536	19	1	1010	1	ZNF445	3	44489074	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1753837	44489074	153533356	311	127243											
LTF	4057	broad.mit.edu	37	chr3	46484979	46484979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgttgctgttgggcacGcacttattctcaccctgctc	8	15	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:46484979G>A	uc003cpq.2	-	13	1646	c.1608C>T	c.(1606-1608)TGC>TGT	p.C536C	LTF_uc003fzr.2_Silent_p.C492C|LTF_uc010hjh.2_Silent_p.C534C|LTF_uc003cpr.2_Silent_p.C523C	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	536	Transferrin-like 2.				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			central_nervous_system(2)|ovary(1)|lung(1)	4				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)	TGTTGGGCACGCACTTATTCT	0.532													A	46484979	G	A	46484979	2	1	257	1	0	0	0	0	0	0	0	1	9079	1079	38	1		1	LTF	3	46484979	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1995905	46484979	151537451	312	127244											
SCAP	22937	broad.mit.edu	37	chr3	47458613	47458613	+	Splice_Site	DEL	T	T	-													tgaggcaggccacgctcaccTtttgtccaagaacaccagag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:47458612_47458612CT>C	uc003crh.1	-	18	3311	c.3056_splice	c.e18+1	p.R1019_splice	SCAP_uc011baz.1_Splice_Site_p.R763_splice|SCAP_uc003crg.2_Splice_Site_p.R626_splice	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	1019	Interaction with SREBF2 (By similarity).			R -> G (in Ref. 6; BAC11673).	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	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum 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)		CCACGCTCACCTTTTGTCCAA	0.567													-	47458613	T	-	47458613	8	5	257	1	0	1	0	1	0	0	1	0	13877	1623	56	0	808	0	SCAP	3	47458613	Splice_Site	DEL	T	TCGA-HU-8602-01A-11D-2394-08	973634	47458613	150563817	313	127245											
SCAP	22937	broad.mit.edu	37	chr3	47459816	47459816	+	Frame_Shift_Del	DEL	G	G	-													tgtgcccctgctcaccatgaGgtggccgcgcagcacaagcg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:47459816delG	uc003crh.1	-	15	2581	c.2326delC	c.(2326-2328)CTCfs	p.L776fs	SCAP_uc011baz.1_Frame_Shift_Del_p.L521fs|SCAP_uc003crg.2_Frame_Shift_Del_p.L384fs	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	776	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 1.				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCACCATGAGGTGGCCGCGC	0.716													-	47459816	G	-	47459816	7	5	257	1	0	1	0	1	0	0	0	0	13877	1000	35	0	1549	0	SCAP	3	47459816	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1203	47459816	150562614	314	127246											
DHX30	22907	broad.mit.edu	37	chr3	47888257	47888257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggtgcatgagcgggaCgtgaacacagactttctgct	14	8	1	4	rs151184284		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:47888257C>T	uc003cru.2	+	11	2121	c.1695C>T	c.(1693-1695)GAC>GAT	p.D565D	DHX30_uc003crt.2_Silent_p.D526D|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	565	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATGAGCGGGACGTGAACACAG	0.617													T	47888257	C	T	47888257	2	4	257	1	0	0	0	0	0	0	0	1	4504	535	19	1		1	DHX30	3	47888257	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	428441	47888257	150134173	315	127247											
CDC25A	993	broad.mit.edu	37	chr3	48207221	48207221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccattcaaaacagatgCcatctgttgagagaaaatta	7	8	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48207221C>T	uc003csh.1	-	12	1460	c.1096G>A	c.(1096-1098)GCA>ACA	p.A366T	CDC25A_uc003csi.1_Missense_Mutation_p.A326T	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	366					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			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AAAACAGATGCCATCTGTTGA	0.423													T	48207221	C	T	48207221	3	4	257	1	0	0	0	0	1	0	0	0	3062	739	26	2	494	2	CDC25A	3	48207221	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	318964	48207221	149815209	316	127248											
ATRIP	84126	broad.mit.edu	37	chr3	48505451	48505452	+	In_Frame_Ins	INS	-	-	CTG													cttttcagaaggctgcctccINStgctgctgctgtacatgtac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48505450_48505451C>CCTG	uc003ctf.1	+	9	1925_1926	c.1893_1894C>CCTG	c.(1891-1896)ctcctg>ctCCTGtg	p.631_632LL>LL	ATRIP_uc011bbj.1_In_Frame_Ins_p.504_505LL>LL|ATRIP_uc003ctg.1_In_Frame_Ins_p.631_632LL>LL|TREX1_uc010hjy.3_5'UTR|TREX1_uc003ctj.3_5'Flank|TREX1_uc010hjz.3_5'Flank|TREX1_uc003ctk.3_5'Flank|TREX1_uc010hka.3_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	631					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)		AAGGCTGCCTCCTGCTGCTGCT	0.55								Other conserved DNA damage response genes					CTG	48505452	-	CTG	48505451	7	5	257	1	0	1	1	0	0	0	0	0	1205	680	24	0	1932	0	ATRIP	3	48505451	In_Frame_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	298230	48505451	149516979	317	127249											
COL7A1	1294	broad.mit.edu	37	chr3	48629340	48629340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcactgaccagtctcacGccgccattccaaccggtagc	8	19	1	1	rs139434755		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48629340G>A	uc003ctz.2	-	10	1349	c.1348C>T	c.(1348-1350)CGT>TGT	p.R450C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	450	Nonhelical region (NC1).|Fibronectin type-III 3.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGTCTCACGCCGCCATTCC	0.632													A	48629340	G	A	48629340	3	1	257	1	0	0	0	0	1	0	0	0	3704	1087	38	1	7922	1	COL7A1	3	48629340	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	123889	48629340	149393090	318	127250											
COL7A1	1294	broad.mit.edu	37	chr3	48630626	48630626	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgctgaagtcattgacGaagaagaagaagtcactggt	12	5	2	6			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48630626G>A	uc003ctz.2	-	5	592	c.591C>T	c.(589-591)TTC>TTT	p.F197F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	197	Nonhelical region (NC1).|VWFA 1.			FFF -> EFR (in Ref. 4; BAA02853).	cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCATTGACGAAGAAGAAGA	0.562													A	48630626	G	A	48630626	2	1	257	1	0	0	0	0	0	0	0	1	3704	1049	37	1		1	COL7A1	3	48630626	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1286	48630626	149391804	319	127251											
TMEM89	440955	broad.mit.edu	37	chr3	48659143	48659143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtgggtggaggcagacGtcaccagcaggagcagcaaa	17	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48659143G>A	uc011bbo.1	-	1	47	c.47C>T	c.(46-48)ACG>ATG	p.T16M		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	16						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGGCAGACGTCACCAGCAG	0.672													A	48659143	G	A	48659143	3	1	257	1	0	0	0	0	1	0	0	0	16210	1145	40	1	439	1	TMEM89	3	48659143	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	28517	48659143	149363287	320	127252											
CELSR3	1951	broad.mit.edu	37	chr3	48668546	48668546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagctttgagaacagctgGgtgttgggggccactggggg	19	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48668546G>A	uc003cuf.1	-	45	11229	c.11229C>T	c.(11227-11229)ACC>ACT	p.T3743T	SLC26A6_uc003cug.2_Silent_p.T317T|SLC26A6_uc003cuh.2_Silent_p.T338T|SLC26A6_uc010hke.2_Silent_p.T189T|SLC26A6_uc003cuk.2_Silent_p.T231T|SLC26A6_uc003cui.2_Silent_p.T338T|SLC26A6_uc003cuj.2_Silent_p.T338T|SLC26A6_uc011bbp.1_Silent_p.T302T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAACAGCTGGGTGTTGGGGG	0.617													A	48668546	G	A	48668546	2	1	257	1	0	0	0	0	0	0	0	1	3223	1219	43	4		4	CELSR3	3	48668546	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	9403	48668546	149353884	321	127253											
CELSR3	1951	broad.mit.edu	37	chr3	48669116	48669116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgggtatcggcatgggcagcTgctgctgcagcttgtcattc	14	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48669116T>A	uc003cuf.1	-	43	11084	c.11084A>T	c.(11083-11085)CAG>CTG	p.Q3695L	SLC26A6_uc003cug.2_Missense_Mutation_p.Q269L|SLC26A6_uc003cuh.2_Missense_Mutation_p.Q290L|SLC26A6_uc010hke.2_Missense_Mutation_p.Q141L|SLC26A6_uc003cuk.2_Missense_Mutation_p.Q183L|SLC26A6_uc003cui.2_Missense_Mutation_p.Q290L|SLC26A6_uc003cuj.2_Missense_Mutation_p.Q290L|SLC26A6_uc011bbp.1_Missense_Mutation_p.Q254L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATGGGCAGCTGCTGCTGCAG	0.652													A	48669116	T	A	48669116	3	1	257	1	0	0	0	0	1	0	0	0	3223	1580	55	5		5	CELSR3	3	48669116	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	570	48669116	149353314	322	127254											
CELSR3	1951	broad.mit.edu	37	chr3	48696563	48696563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatctggaagttgttgaGcacagggctgttgtcattct	14	6	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48696563G>A	uc003cul.2	-	1	3786	c.3505C>T	c.(3505-3507)CTC>TTC	p.L1169F	CELSR3_uc003cuf.1_Missense_Mutation_p.L1239F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1169	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGTTGTTGAGCACAGGGCTG	0.537													A	48696563	G	A	48696563	3	1	257	1	0	0	0	0	1	0	0	0	3223	971	34	2	6573	2	CELSR3	3	48696563	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	27447	48696563	149325867	323	127255											
USP19	10869	broad.mit.edu	37	chr3	49152280	49152280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcattcctcatcttgtgCcgctgccatgcttcctcagc	8	15	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:49152280C>T	uc003cwd.1	-	14	2060	c.1899G>A	c.(1897-1899)CGG>CGA	p.R633R	USP19_uc003cwa.2_Silent_p.R441R|USP19_uc003cvz.3_Silent_p.R736R|USP19_uc011bcg.1_Silent_p.R724R|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.R391R|USP19_uc011bch.1_Silent_p.R734R	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	633	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATCTTGTGCCGCTGCCATG	0.567													T	49152280	C	T	49152280	2	4	257	1	0	0	0	0	0	0	0	1	17047	726	26	2		2	USP19	3	49152280	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	455717	49152280	148870150	324	127256											
LAMB2	3913	broad.mit.edu	37	chr3	49159654	49159654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcacatctcctacagtacGtgccaggatcgcatccacat	7	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:49159654G>A	uc003cwe.2	-	28	5022	c.4723C>T	c.(4723-4725)CGT>TGT	p.R1575C	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1575	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTACAGTACGTGCCAGGATC	0.617													A	49159654	G	A	49159654	3	1	257	1	0	0	0	0	1	0	0	0	8611	1145	40	1	693	1	LAMB2	3	49159654	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7374	49159654	148862776	325	127257											
MST1R	4486	broad.mit.edu	37	chr3	49935593	49935593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggtagaagttggagcCacacagggtcagccttgtac	14	8	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:49935593C>A	uc003cxy.3	-	5	2035	c.1771G>T	c.(1771-1773)GGC>TGC	p.G591C	MST1R_uc011bdd.1_Missense_Mutation_p.G591C|MST1R_uc011bde.1_Missense_Mutation_p.G591C|MST1R_uc011bdf.1_Missense_Mutation_p.G485C|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	591	IPT/TIG 1.|Extracellular (Potential).				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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AAGTTGGAGCCACACAGGGTC	0.597													A	49935593	C	A	49935593	3	1	257	1	0	0	0	0	1	0	0	0	9891	594	21	5	2495	5	MST1R	3	49935593	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	775939	49935593	148086837	326	127258											
HYAL2	8692	broad.mit.edu	37	chr3	50355829	50355829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgagatgcaggaaggTactggcactggggttgcggc	19	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:50355829T>C	uc003czu.2	-	4	1373	c.1153A>G	c.(1153-1155)ACC>GCC	p.T385A	HYAL2_uc003czx.2_Missense_Mutation_p.T385A|HYAL2_uc003czv.2_Missense_Mutation_p.T385A|HYAL2_uc003czw.2_Missense_Mutation_p.T385A	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	385	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TGCAGGAAGGTACTGGCACTG	0.637													C	50355829	T	C	50355829	3	2	257	1	0	0	0	0	1	0	0	0	7464	1638	57	3	272	3	HYAL2	3	50355829	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	420236	50355829	147666601	327	127259											
TEX264	51368	broad.mit.edu	37	chr3	51733580	51733580	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggccattgacacccaggtGgatggcacaggtacagaagg	15	9	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:51733580G>T	uc010hls.2	+	5	808	c.639G>T	c.(637-639)GTG>GTT	p.V213V	TEX264_uc003dbk.3_Silent_p.V213V|TEX264_uc010hlt.2_Silent_p.V33V|TEX264_uc003dbl.3_Silent_p.V213V|TEX264_uc003dbm.3_Silent_p.V252V	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	213						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		ACACCCAGGTGGATGGCACAG	0.597													T	51733580	G	T	51733580	2	4	257	1	0	0	0	0	0	0	0	1	15780	1335	47	5		5	TEX264	3	51733580	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1377751	51733580	146288850	328	127260											
DNAH1	25981	broad.mit.edu	37	chr3	52417962	52417962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactggtttaacgagtggcCggcagaagccctgaagtctg	14	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52417962C>T	uc011bef.1	+	52	8498	c.8237C>T	c.(8236-8238)CCG>CTG	p.P2746L	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2746	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			large_intestine(3)	3				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)		AACGAGTGGCCGGCAGAAGCC	0.562													T	52417962	C	T	52417962	3	4	257	1	0	0	0	0	1	0	0	0	4597	652	23	1	8439	1	DNAH1	3	52417962	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	684382	52417962	145604468	329	127261											
STAB1	23166	broad.mit.edu	37	chr3	52529484	52529484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggccttctgcctggcaGgcttcagcttcgtcaggggg	14	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52529484G>T	uc003dej.2	+	1	129	c.55G>T	c.(55-57)GGC>TGC	p.G19C	STAB1_uc003dei.1_Missense_Mutation_p.G19C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	19					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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		CTGCCTGGCAGGCTTCAGCTT	0.697													T	52529484	G	T	52529484	3	4	257	1	0	0	0	0	1	0	0	0	15236	1000	35	5	57	5	STAB1	3	52529484	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	111522	52529484	145492946	330	127262											
PBRM1	55193	broad.mit.edu	37	chr3	52623161	52623161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcaggttccacatagaCgtaatctccaacatggtaca	7	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52623161C>T	uc003des.2	-	18	2902	c.2890G>A	c.(2890-2892)GTC>ATC	p.V964I	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.V964I|PBRM1_uc003der.2_Missense_Mutation_p.V932I|PBRM1_uc003det.2_Missense_Mutation_p.V979I|PBRM1_uc003deu.2_Missense_Mutation_p.V979I|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.V964I|PBRM1_uc010hmk.1_Missense_Mutation_p.V964I|PBRM1_uc003dey.2_Missense_Mutation_p.V964I|PBRM1_uc003dez.1_Missense_Mutation_p.V963I|PBRM1_uc003dfb.1_Missense_Mutation_p.V876I|PBRM1_uc003dfa.1_Missense_Mutation_p.V310I	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	964	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				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)		TCCACATAGACGTAATCTCCA	0.458			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								T	52623161	C	T	52623161	3	4	257	1	0	0	0	0	1	0	0	0	11491	536	19	1	2062	1	PBRM1	3	52623161	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	93677	52623161	145399269	331	127263											
ITIH4	3700	broad.mit.edu	37	chr3	52861147	52861147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccttggccactgctgcGctgtactgtgcctgggcttc	11	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52861147G>A	uc003dfz.2	-	3	354	c.318C>T	c.(316-318)AGC>AGT	p.S106S	ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_5'Flank|ITIH4_uc011bem.1_Silent_p.S106S|ITIH4_uc011ben.1_Silent_p.S106S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	106	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				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)		CCACTGCTGCGCTGTACTGTG	0.602													A	52861147	G	A	52861147	2	1	257	1	0	0	0	0	0	0	0	1	7906	1078	38	1		1	ITIH4	3	52861147	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	237986	52861147	145161283	332	127264											
SFMBT1	51460	broad.mit.edu	37	chr3	52945125	52945125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgatacaggtttgccgGcagaattcagtcacccgatc	10	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52945125G>A	uc003dgf.2	-	18	2369	c.1800C>T	c.(1798-1800)TGC>TGT	p.C600C	SFMBT1_uc010hmr.2_Silent_p.C547C|SFMBT1_uc003dgg.2_Silent_p.C600C|SFMBT1_uc003dgh.2_Silent_p.C600C	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	600					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		AGGTTTGCCGGCAGAATTCAG	0.438													A	52945125	G	A	52945125	2	1	257	1	0	0	0	0	0	0	0	1	14157	1195	42	2		2	SFMBT1	3	52945125	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	83978	52945125	145077305	333	127265											
CACNA1D	776	broad.mit.edu	37	chr3	53835443	53835443	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctcagagaaggtccaGtgtgaaaaggtaaccttgac	13	8	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:53835443G>C	uc003dgv.3	+	42	5562	c.5399G>C	c.(5398-5400)AGT>ACT	p.S1800T	CACNA1D_uc003dgu.3_Missense_Mutation_p.S1820T|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1785T|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1467T|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1800	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	AGAAGGTCCAGTGTGAAAAGG	0.542													C	53835443	G	C	53835443	3	2	257	1	0	0	0	0	1	0	0	0	2541	1029	36	5	5737	5	CACNA1D	3	53835443	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	890318	53835443	144186987	334	127266											
IL17RB	55540	broad.mit.edu	37	chr3	53890903	53890905	+	In_Frame_Del	DEL	AAG	AAG	-													atccgaacatcactgcttgtAagaagaatgaggagacagta							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:53890902_53890904TAAG>T	uc003dha.3	+	6	600_602	c.561_563TAAG>T	c.(559-564)tgtaag>tgTg	p.K189del		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	189					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TCACTGCTTGTAAGAAGAATGAG	0.468													-	53890905	AAG	-	53890903	7	5	257	1	0	1	0	1	0	0	0	0	7640	363	13	0	588	0	IL17RB	3	53890903	In_Frame_Del	DEL	AAG	TCGA-HU-8602-01A-11D-2394-08	55460	53890903	144131527	335	127267											
PDE12	201626	broad.mit.edu	37	chr3	57543207	57543207	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtacccgccctagaggcCttcgggctcgagggggtgtt	16	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:57543207C>A	uc003diw.3	+	1	1227	c.1101C>A	c.(1099-1101)GCC>GCA	p.A367A	PDE12_uc003div.2_Silent_p.A367A	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	367							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCCTAGAGGCCTTCGGGCTCG	0.532													A	57543207	C	A	57543207	2	1	257	1	0	0	0	0	0	0	0	1	11632	668	24	5		5	PDE12	3	57543207	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3652304	57543207	140479223	336	127268											
PTPRG	5793	broad.mit.edu	37	chr3	61975362	61975362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggggccgtcaccagtctcCtattgacattttagaccagt	10	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:61975362C>A	uc003dlb.2	+	3	973	c.254C>A	c.(253-255)CCT>CAT	p.P85H	PTPRG_uc003dlc.2_Missense_Mutation_p.P85H	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	85	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CACCAGTCTCCTATTGACATT	0.488													A	61975362	C	A	61975362	3	1	257	1	0	0	0	0	1	0	0	0	12802	681	24	5	264	5	PTPRG	3	61975362	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4432155	61975362	136047068	337	127269											
CADPS	8618	broad.mit.edu	37	chr3	62385187	62385187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccacagtgagacggttcCggatcgtttcataggtcttg	11	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:62385187C>T	uc003dll.2	-	30	4316	c.3956G>A	c.(3955-3957)CGG>CAG	p.R1319Q	CADPS_uc003dlj.1_Missense_Mutation_p.R274Q|CADPS_uc003dlk.1_Missense_Mutation_p.R767Q|CADPS_uc003dlm.2_Missense_Mutation_p.R1280Q|CADPS_uc003dln.2_Missense_Mutation_p.R1240Q	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1319	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		GAGACGGTTCCGGATCGTTTC	0.498													T	62385187	C	T	62385187	3	4	257	1	0	0	0	0	1	0	0	0	2570	652	23	1	109	1	CADPS	3	62385187	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	409825	62385187	135637243	338	127270											
GPR27	2850	broad.mit.edu	37	chr3	71804132	71804132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgcgggtcctggtgcGgcccggcgccgtcccccagg	15	18	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:71804132G>A	uc011bge.1	+	1	932	c.932G>A	c.(931-933)CGG>CAG	p.R311Q	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	311	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GTCCTGGTGCGGCCCGGCGCC	0.672													A	71804132	G	A	71804132	3	1	257	1	0	0	0	0	1	0	0	0	6685	1116	39	1	934	1	GPR27	3	71804132	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	9418945	71804132	126218298	339	127271											
PROS1	5627	broad.mit.edu	37	chr3	93603719	93603719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaattccagcttcgtatacAtccatctagacgagggttaa	7	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:93603719A>G	uc003drb.3	-	12	1686	c.1345T>C	c.(1345-1347)TGT>CGT	p.C449R	PROS1_uc010hoo.2_Missense_Mutation_p.C318R|PROS1_uc003dqz.3_Missense_Mutation_p.C318R	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	449	Laminin G-like 1.		C -> S (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			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTCGTATACATCCATCTAGA	0.348													G	93603719	A	G	93603719	3	3	257	1	0	0	0	0	1	0	0	0	12558	217	8	3	701	3	PROS1	3	93603719	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	21799587	93603719	104418711	340	127272											
DCBLD2	131566	broad.mit.edu	37	chr3	98538224	98538224	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgttatttgaggatccgcGatcacaccagactccatccc	8	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:98538224G>A	uc003dtd.2	-	8	1272	c.909C>T	c.(907-909)ATC>ATT	p.I303I	DCBLD2_uc003dte.2_Silent_p.I303I	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	303	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GAGGATCCGCGATCACACCAG	0.443													A	98538224	G	A	98538224	2	1	257	1	0	0	0	0	0	0	0	1	4281	1048	37	1		1	DCBLD2	3	98538224	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4934505	98538224	99484206	341	127273											
IMPG2	50939	broad.mit.edu	37	chr3	100949925	100949925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagtgatgcctatgatcaCgggctcagacacaaattcct	8	10	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:100949925C>T	uc003duq.1	-	16	3501	c.3298G>A	c.(3298-3300)GTG>ATG	p.V1100M	IMPG2_uc011bhe.1_Missense_Mutation_p.V963M|IMPG2_uc010hpj.1_Intron	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1100	Helical; (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CCTATGATCACGGGCTCAGAC	0.502													T	100949925	C	T	100949925	3	4	257	1	0	0	0	0	1	0	0	0	7729	536	19	1	443	1	IMPG2	3	100949925	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2411701	100949925	97072505	342	127274											
CBLB	868	broad.mit.edu	37	chr3	105422838	105422838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaattgatctacctttggTgaacccgttgggctgccaca	9	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:105422838T>C	uc003dwc.2	-	11	1909	c.1587A>G	c.(1585-1587)TCA>TCG	p.S529S	CBLB_uc011bhi.1_Silent_p.S551S|CBLB_uc003dwd.1_Silent_p.S529S|CBLB_uc003dwe.1_Silent_p.S529S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	529	Pro-rich.				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			lung(4)|ovary(3)|breast(1)|skin(1)	9						CTACCTTTGGTGAACCCGTTG	0.403			Mis S		AML								C	105422838	T	C	105422838	2	2	257	1	0	0	0	0	0	0	0	1	2701	1683	59	3		3	CBLB	3	105422838	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4472913	105422838	92599592	343	127275											
TRAT1	50852	broad.mit.edu	37	chr3	108572699	108572699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactgtttggattgatccGtgctaagagagaacctataa	10	7	0	4	rs79029897	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:108572699G>A	uc003dxi.1	+	6	680	c.536G>A	c.(535-537)CGT>CAT	p.R179H	TRAT1_uc010hpx.1_Missense_Mutation_p.R142H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	179	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						GGATTGATCCGTGCTAAGAGA	0.428													A	108572699	G	A	108572699	3	1	257	1	0	0	0	0	1	0	0	0	16463	1145	40	1	558	1	TRAT1	3	108572699	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3149861	108572699	89449731	344	127276											
MORC1	27136	broad.mit.edu	37	chr3	108818240	108818240	+	Frame_Shift_Del	DEL	A	A	-													ttcttcacagaatgtctgagAaaaaaacacacaggtcatcg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:108818239_108818239GA>G	uc003dxl.3	-	5	476	c.389_389TC>C	c.(388-390)tctfs	p.S130fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.S130fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	130					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						GAATGTCTGAGAAAAAAACAC	0.358													-	108818240	A	-	108818240	7	5	257	1	0	1	0	1	0	0	0	0	9701	246	9	0	2658	0	MORC1	3	108818240	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	245541	108818240	89204190	345	127277											
C3orf17	25871	broad.mit.edu	37	chr3	112732150	112732150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcagtccaacaagcGgagcaacaacttgcaggctc	11	13	0	0	rs34351095		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:112732150G>A	uc003dzr.2	-	4	503	c.442C>T	c.(442-444)CGC>TGC	p.R148C	GTPBP8_uc011bhy.1_Intron|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Missense_Mutation_p.R51C|C3orf17_uc003dzs.2_Missense_Mutation_p.R12C|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_Missense_Mutation_p.P25L|C3orf17_uc003dzu.2_Intron|C3orf17_uc011bib.1_Missense_Mutation_p.R37C|C3orf17_uc011bic.1_Intron|C3orf17_uc011bid.1_Intron	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	148						integral to membrane					0						TCCAACAAGCGGAGCAACAAC	0.398													A	112732150	G	A	112732150	3	1	257	1	0	0	0	0	1	0	0	0	2210	1116	39	1	1285	1	C3orf17	3	112732150	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3913910	112732150	85290280	346	127278											
WDR52	55779	broad.mit.edu	37	chr3	113118803	113118803	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtttgaatttcatctGggccaaaggagttttgctag	10	7	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:113118803G>A	uc003eae.1	-	13	1565	c.1519C>T	c.(1519-1521)CAG>TAG	p.Q507*		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	507	WD 5.									central_nervous_system(1)	1						AATTTCATCTGGGCCAAAGGA	0.318													A	113118803	G	A	113118803	4	1	257	1	0	0	0	0	0	1	0	0	17301	1357	47	4	4152	4	WDR52	3	113118803	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	386653	113118803	84903627	347	127279											
GRAMD1C	54762	broad.mit.edu	37	chr3	113658739	113658739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgctctgcctagtgtgttGttattagttttgttgaatgt	10	4	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:113658739G>A	uc003eaq.3	+	16	1774	c.1698G>A	c.(1696-1698)TTG>TTA	p.L566L	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Silent_p.L399L|GRAMD1C_uc003eas.2_Silent_p.L361L|GRAMD1C_uc003eat.2_Silent_p.L225L	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	566	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3						CTAGTGTGTTGTTATTAGTTT	0.373													A	113658739	G	A	113658739	2	1	257	1	0	0	0	0	0	0	0	1	6749	1368	48	4		4	GRAMD1C	3	113658739	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	539936	113658739	84363691	348	127280											
UPK1B	7348	broad.mit.edu	37	chr3	118909885	118909885	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccaaaacaacagcccTccaaacaatgatgaccagtg	7	12	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:118909885T>G	uc003ecc.2	+	5	491	c.402T>G	c.(400-402)CCT>CCG	p.P134P	UPK1B_uc011bix.1_Silent_p.P54P|UPK1B_uc003ecd.2_Silent_p.P126P	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	134	Extracellular (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)		ACAACAGCCCTCCAAACAATG	0.483													G	118909885	T	G	118909885	2	3	257	1	0	0	0	0	0	0	0	1	17005	1538	54	5		5	UPK1B	3	118909885	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	5251146	118909885	79112545	349	127281											
CD80	941	broad.mit.edu	37	chr3	119263411	119263411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacctttgactgataacGtcacttcagccaggtgttcc	7	13	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:119263411G>A	uc003ecq.2	-	3	799	c.404C>T	c.(403-405)ACG>ATG	p.T135M	CD80_uc010hqt.1_Missense_Mutation_p.T135M|CD80_uc010hqu.1_Missense_Mutation_p.T135M|CD80_uc003ecr.1_Missense_Mutation_p.T135M	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	135	Extracellular (Potential).|Ig-like V-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			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	GACTGATAACGTCACTTCAGC	0.453													A	119263411	G	A	119263411	3	1	257	1	0	0	0	0	1	0	0	0	3038	1145	40	1	478	1	CD80	3	119263411	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	353526	119263411	78759019	350	127282											
FBXO40	51725	broad.mit.edu	37	chr3	121341781	121341781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacagacattcagtcatGtctcaatggctggttccagc	8	13	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:121341781G>A	uc003eeg.2	+	3	1715	c.1505G>A	c.(1504-1506)TGT>TAT	p.C502Y		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	502					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		ATTCAGTCATGTCTCAATGGC	0.478													A	121341781	G	A	121341781	3	1	257	1	0	0	0	0	1	0	0	0	5749	1377	48	4	1511	4	FBXO40	3	121341781	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2078370	121341781	76680649	351	127283											
GOLGB1	2804	broad.mit.edu	37	chr3	121410577	121410577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattgttatcacttggttcAggtcttctctatattggatc	7	7	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:121410577A>G	uc003eei.3	-	14	7745	c.7619T>C	c.(7618-7620)CTG>CCG	p.L2540P	GOLGB1_uc010hrc.2_Missense_Mutation_p.L2545P|GOLGB1_uc003eej.3_Missense_Mutation_p.L2506P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2540	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CACTTGGTTCAGGTCTTCTCT	0.363													G	121410577	A	G	121410577	3	3	257	1	0	0	0	0	1	0	0	0	6565	188	7	3	2196	3	GOLGB1	3	121410577	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	68796	121410577	76611853	352	127284											
CD86	942	broad.mit.edu	37	chr3	121828183	121828183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttccaacagttattataTgtgtgatggttttctgtcta	7	6	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:121828183T>C	uc003eet.2	+	5	891	c.775T>C	c.(775-777)TGT>CGT	p.C259R	CD86_uc011bjo.1_Missense_Mutation_p.C177R|CD86_uc011bjp.1_Missense_Mutation_p.C147R|CD86_uc003eeu.2_Missense_Mutation_p.C253R	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	259	Helical; (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGTTATTATATGTGTGATGGT	0.443													C	121828183	T	C	121828183	3	2	257	1	0	0	0	0	1	0	0	0	3043	1464	51	3	793	3	CD86	3	121828183	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	417606	121828183	76194247	353	127285											
SEMA5B	54437	broad.mit.edu	37	chr3	122631808	122631808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgcggaagcccagctcGcagtcccgggagcaggacga	16	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:122631808G>A	uc003efz.1	-	18	2911	c.2607C>T	c.(2605-2607)TGC>TGT	p.C869C	SEMA5B_uc011bju.1_Silent_p.C811C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.C869C|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	869	Extracellular (Potential).|TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		AGCCCAGCTCGCAGTCCCGGG	0.731													A	122631808	G	A	122631808	2	1	257	1	0	0	0	0	0	0	0	1	14038	1079	38	1		1	SEMA5B	3	122631808	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	803625	122631808	75390622	354	127286											
SEC22A	26984	broad.mit.edu	37	chr3	122942522	122942522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcattactacttataacaTgatgaagacaaatactgctg	6	7	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:122942522T>C	uc003ege.2	+	3	378	c.299T>C	c.(298-300)ATG>ACG	p.M100T	SEC22A_uc003egf.2_Missense_Mutation_p.M100T	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A	100	Cytoplasmic (Potential).|Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0548)		ACTTATAACATGATGAAGACA	0.383													C	122942522	T	C	122942522	3	2	257	1	0	0	0	0	1	0	0	0	13988	1464	51	3	305	3	SEC22A	3	122942522	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	310714	122942522	75079908	355	127287											
MYLK	4638	broad.mit.edu	37	chr3	123376260	123376260	+	Frame_Shift_Del	DEL	G	G	-													aggcacaaggtgtgccagctGgggggtctggcttatctggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:123376259_123376259TG>T	uc003ego.3	-	23	4284	c.4002_4002CA>A	c.(4000-4002)ccafs	p.P1334fs	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Frame_Shift_Del_p.P134fs|MYLK_uc011bjw.2_Frame_Shift_Del_p.P1334fs|MYLK_uc003egp.3_Frame_Shift_Del_p.P1265fs|MYLK_uc003egq.3_Frame_Shift_Del_p.P1334fs|MYLK_uc003egr.3_Frame_Shift_Del_p.P1265fs|MYLK_uc003egs.3_Frame_Shift_Del_p.P1158fs	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1334	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin 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)		GTGTGCCAGCTGGGGGGTCTG	0.527													-	123376260	G	-	123376260	7	5	257	1	0	1	0	1	0	0	0	0	10056	1348	47	0	1787	0	MYLK	3	123376260	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	433738	123376260	74646170	356	127288											
RUVBL1	8607	broad.mit.edu	37	chr3	127816210	127816210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagaagactccagggcgcGgtgcaggtaggtgaagcact	16	8	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:127816210G>A	uc003ekh.2	-	8	1053	c.949C>T	c.(949-951)CGC>TGC	p.R317C	RUVBL1_uc003eke.2_Missense_Mutation_p.R58C|RUVBL1_uc003ekf.2_Missense_Mutation_p.R257C|RUVBL1_uc010hss.2_Missense_Mutation_p.R317C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	317					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		TCCAGGGCGCGGTGCAGGTAG	0.552													A	127816210	G	A	127816210	3	1	257	1	0	0	0	0	1	0	0	0	13752	1116	39	1	437	1	RUVBL1	3	127816210	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4439950	127816210	70206220	357	127289											
RUVBL1	8607	broad.mit.edu	37	chr3	127816299	127816299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcaatgccctggtcgAtgtacttgttcaccacctta	8	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:127816299A>G	uc003ekh.2	-	8	964	c.860T>C	c.(859-861)ATC>ACC	p.I287T	RUVBL1_uc003eke.2_Missense_Mutation_p.I28T|RUVBL1_uc003ekf.2_Missense_Mutation_p.I227T|RUVBL1_uc010hss.2_Missense_Mutation_p.I287T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	287					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		GCCCTGGTCGATGTACTTGTT	0.562													G	127816299	A	G	127816299	3	3	257	1	0	0	0	0	1	0	0	0	13752	333	12	3	526	3	RUVBL1	3	127816299	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	89	127816299	70206131	358	127290											
PLXND1	23129	broad.mit.edu	37	chr3	129278498	129278498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtagggtgtcggggtcGgagattcccctcttctcagc	14	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:129278498G>A	uc003emx.2	-	32	5362	c.5262C>T	c.(5260-5262)TCC>TCT	p.S1754S	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.S422S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1754	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TGTCGGGGTCGGAGATTCCCC	0.542													A	129278498	G	A	129278498	2	1	257	1	0	0	0	0	0	0	0	1	12127	1103	39	1		1	PLXND1	3	129278498	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1462199	129278498	68743932	359	127291											
TMCC1	23023	broad.mit.edu	37	chr3	129373844	129373844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgttcataggactgataCgcgattttttcttccatgct	8	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:129373844C>T	uc003emz.3	-	6	2115	c.1614G>A	c.(1612-1614)GCG>GCA	p.A538A	TMCC1_uc003emy.3_Silent_p.A214A|TMCC1_uc011blc.1_Silent_p.A359A|TMCC1_uc010htg.2_Silent_p.A424A	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	538	Potential.					integral to membrane				skin(1)	1						AGGACTGATACGCGATTTTTT	0.428													T	129373844	C	T	129373844	2	4	257	1	0	0	0	0	0	0	0	1	15989	523	19	1		1	TMCC1	3	129373844	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	95346	129373844	68648586	360	127292											
TF	7018	broad.mit.edu	37	chr3	133494278	133494278	+	Splice_Site	DEL	A	A	-													accttcttcctgtccctaggAaaaaaccctgatccatgggc					rs145306578		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:133494277_133494277GA>G	uc003epu.2	+	20	3416	c.1688_splice	c.e20-1	p.G563_splice	TF_uc011blt.2_Splice_Site_p.G436_splice|TF_uc003epw.2_Intron|TF_uc003epv.2_Splice_Site_p.G563_splice	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	563	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.G563E(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)	CTGTCCCTAGGAAAAAACCCT	0.512													-	133494278	A	-	133494278	8	5	257	1	0	1	0	1	0	0	1	0	15782	260	9	0	1747	0	TF	3	133494278	Splice_Site	DEL	A	TCGA-HU-8602-01A-11D-2394-08	4120434	133494278	64528152	361	127293											
DZIP1L	199221	broad.mit.edu	37	chr3	137811279	137811279	+	Frame_Shift_Del	DEL	T	T	-													ttaaattcatcccaaaataaTttttttagtttatctatttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:137811278_137811278AT>A	uc003erq.3	-	4	1180	c.817_817AT>T	c.(817-819)ttafs	p.L273fs	DZIP1L_uc003err.1_Frame_Shift_Del_p.L273fs	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	273						intracellular	zinc ion binding	p.K272Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCCCAAAATAATTTTTTTAGT	0.338													-	137811279	T	-	137811279	7	5	257	1	0	1	0	1	0	0	0	0	4864	1490	52	0	1544	0	DZIP1L	3	137811279	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	4317001	137811279	60211151	362	127294											
RBP2	5948	broad.mit.edu	37	chr3	139173634	139173635	+	Frame_Shift_Ins	INS	-	-	CA													tctccttctcccccttttgcINSacacacacaaggacatcacc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:139173633_139173634G>GCA	uc003eth.3	-	2	342_343	c.291_292C>TGC	c.(289-294)gtgcaafs	p.V97fs		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	97					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TCCCCCTTTTGCACACACACAA	0.51													CA	139173635	-	CA	139173634	7	5	257	1	0	1	1	0	0	0	0	0	13156	697	25	0	121	0	RBP2	3	139173634	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1362355	139173634	58848796	363	127295											
CLSTN2	64084	broad.mit.edu	37	chr3	140277498	140277498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgctttggggaagacGtatgcatcagtatccctgag	13	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:140277498G>A	uc003etn.2	+	12	2030	c.1840G>A	c.(1840-1842)GTA>ATA	p.V614I		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	614	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TGGGGAAGACGTATGCATCAG	0.542										HNSCC(16;0.037)			A	140277498	G	A	140277498	3	1	257	1	0	0	0	0	1	0	0	0	3562	1145	40	1	1886	1	CLSTN2	3	140277498	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1103864	140277498	57744932	364	127296											
SPSB4	92369	broad.mit.edu	37	chr3	140785500	140785500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgctggacatggatgAgggcacactcagcttcatcg	14	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:140785500A>C	uc003ett.2	+	2	808	c.554A>C	c.(553-555)GAG>GCG	p.E185A	SPSB4_uc010hum.2_Missense_Mutation_p.E185A	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	185	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						GACATGGATGAGGGCACACTC	0.662													C	140785500	A	C	140785500	3	2	257	1	0	0	0	0	1	0	0	0	15114	304	11	5	556	5	SPSB4	3	140785500	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	508002	140785500	57236930	365	127297											
ACPL2	92370	broad.mit.edu	37	chr3	141011448	141011448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggagatggccaagatcGtggatgtccccaccaagcag	14	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:141011448G>A	uc003etu.2	+	8	1143	c.844G>A	c.(844-846)GTG>ATG	p.V282M	ACPL2_uc003etv.2_Missense_Mutation_p.V282M|ACPL2_uc011bna.1_Missense_Mutation_p.V244M|ACPL2_uc011bnb.1_Missense_Mutation_p.V265M	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	282						extracellular region	acid phosphatase activity			skin(1)	1						GGCCAAGATCGTGGATGTCCC	0.527													A	141011448	G	A	141011448	3	1	257	1	0	0	0	0	1	0	0	0	166	1145	40	1	862	1	ACPL2	3	141011448	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	225948	141011448	57010982	366	127298											
GRK7	131890	broad.mit.edu	37	chr3	141526518	141526518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttacatggctcctgagaTcctaatggaaaaggtaagtt	11	6	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:141526518T>C	uc011bnd.1	+	3	1166	c.1082T>C	c.(1081-1083)ATC>ACC	p.I361T		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	361	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GCTCCTGAGATCCTAATGGAA	0.393													C	141526518	T	C	141526518	3	2	257	1	0	0	0	0	1	0	0	0	6794	1435	50	3	1092	3	GRK7	3	141526518	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	515070	141526518	56495912	367	127299											
CHST2	9435	broad.mit.edu	37	chr3	142840276	142840276	+	Frame_Shift_Del	DEL	G	G	-													gtatggcaaaaactgtatccGggggacgccgtttccctgca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:142840275_142840275CG>C	uc003evm.3	+	1	1556	c.617_617CG>C	c.(616-618)ccgfs	p.P206fs	CHST2_uc021xex.1_Frame_Shift_Del_p.P206fs	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	206					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|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						AAACTGTATCCGGGGGACGCC	0.597													-	142840276	G	-	142840276	7	5	257	1	0	1	0	1	0	0	0	0	3404	1103	39	0	620	0	CHST2	3	142840276	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1313758	142840276	55182154	368	127300											
CHST2	9435	broad.mit.edu	37	chr3	142840728	142840728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagcctacaggtggtgcGcagccgagacccgcgagctc	15	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:142840728G>A	uc003evm.2	+	2	1959	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	357	Lumenal (Potential).				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			ovary(3)	3						CAGGTGGTGCGCAGCCGAGAC	0.687													A	142840728	G	A	142840728	3	1	257	1	0	0	0	0	1	0	0	0	3404	1087	38	1	1072	1	CHST2	3	142840728	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	452	142840728	55181702	369	127301											
ZIC1	7545	broad.mit.edu	37	chr3	147128224	147128224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgcaaccggggttttggcGacgcggcggcggcagccagc	17	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:147128224G>A	uc003ewe.2	+	1	1044	c.325G>A	c.(325-327)GAC>AAC	p.D109N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	109					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			ovary(1)|central_nervous_system(1)	2						GGGTTTTGGCGACGCGGCGGC	0.706													A	147128224	G	A	147128224	3	1	257	1	0	0	0	0	1	0	0	0	17675	1058	37	1	327	1	ZIC1	3	147128224	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4287496	147128224	50894206	370	127302											
CP	1356	broad.mit.edu	37	chr3	148904461	148904461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaataagtaccacacgacCgaatctcctttgcacatagt	6	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:148904461C>T	uc003ewy.3	-	11	2176	c.1923G>A	c.(1921-1923)TCG>TCA	p.S641S	CP_uc011bnr.1_Intron|CP_uc003ewx.3_Silent_p.S422S|CP_uc003ewz.2_Silent_p.S641S|CP_uc010hvf.1_Silent_p.S367S	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	641	Plastocyanin-like 4.|F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		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)	ACCACACGACCGAATCTCCTT	0.438													T	148904461	C	T	148904461	2	4	257	1	0	0	0	0	0	0	0	1	3787	639	23	1		1	CP	3	148904461	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1776237	148904461	49117969	371	127303											
IGSF10	285313	broad.mit.edu	37	chr3	151154496	151154496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagattacttgaatatacGttgctgcataatcactacca	6	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:151154496G>A	uc011bod.1	-	6	7853	c.7853C>T	c.(7852-7854)ACG>ATG	p.T2618M	IGSF10_uc011bob.1_Missense_Mutation_p.T645M|IGSF10_uc011boc.1_Missense_Mutation_p.T597M	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2618	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGAATATACGTTGCTGCATA	0.383													A	151154496	G	A	151154496	3	1	257	1	0	0	0	0	1	0	0	0	7597	1145	40	1	22	1	IGSF10	3	151154496	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2250035	151154496	46867934	372	127304											
PLCH1	23007	broad.mit.edu	37	chr3	155301352	155301352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtaacaaataaaggtctCgtctcaaagacatcattttg	6	7	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:155301352C>T	uc011bok.1	-	5	921	c.644G>A	c.(643-645)CGA>CAA	p.R215Q	PLCH1_uc011boj.1_Missense_Mutation_p.R215Q|PLCH1_uc011bol.1_Missense_Mutation_p.R197Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	215					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAAAGGTCTCGTCTCAAAGA	0.383													T	155301352	C	T	155301352	3	4	257	1	0	0	0	0	1	0	0	0	12037	884	31	1	4528	1	PLCH1	3	155301352	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4146856	155301352	42721078	373	127305											
SHOX2	6474	broad.mit.edu	37	chr3	157823674	157823674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgcggtcgtcgcggCccgcctcggtgcagccggtc	17	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:157823674C>T	uc003fbr.2	-	1	279	c.140G>A	c.(139-141)GGC>GAC	p.G47D	SHOX2_uc003fbs.2_Missense_Mutation_p.G47D|SHOX2_uc010hvw.2_Missense_Mutation_p.G47D	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	47					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTCGTCGCGGCCCGCCTCGGT	0.468													T	157823674	C	T	157823674	3	4	257	1	0	0	0	0	1	0	0	0	14289	739	26	2	951	2	SHOX2	3	157823674	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2522322	157823674	40198756	374	127306											
SI	6476	broad.mit.edu	37	chr3	164709251	164709251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaaattgtcctctgacGccaatatctttgccctggaa	8	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:164709251G>A	uc003fei.2	-	44	5060	c.4998C>T	c.(4996-4998)GGC>GGT	p.G1666G		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1666	Sucrase.|Lumenal.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCCTCTGACGCCAATATCTT	0.403										HNSCC(35;0.089)			A	164709251	G	A	164709251	2	1	257	1	0	0	0	0	0	0	0	1	14297	1074	38	1		1	SI	3	164709251	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6885577	164709251	33313179	375	127307											
SLITRK3	22865	broad.mit.edu	37	chr3	164906063	164906063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaagtctcccccagtTcccccaactactcctgaaac	4	20	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:164906063T>C	uc003fej.3	-	2	3000	c.2556A>G	c.(2554-2556)GGA>GGG	p.G852G	SLITRK3_uc003fek.2_Silent_p.G852G	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	852	Cytoplasmic (Potential).					integral to membrane		p.G852E(1)		ovary(6)|skin(3)|pancreas(1)	10						CTCCCCCAGTTCCCCCAACTA	0.572										HNSCC(40;0.11)			C	164906063	T	C	164906063	2	2	257	1	0	0	0	0	0	0	0	1	14744	1770	62	3		3	SLITRK3	3	164906063	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	196812	164906063	33116367	376	127308											
BCHE	590	broad.mit.edu	37	chr3	165548196	165548196	+	Frame_Shift_Del	DEL	T	T	-													ttccaccaaaggctgctataTttttttgaacccactgaaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:165548195_165548195AT>A	uc003fem.4	-	1	787	c.627_627AT>T	c.(625-627)aatfs	p.N209fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	209					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	p.N209Y(1)		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)	AGGCTGCTATATTTTTTTGAA	0.453													-	165548196	T	-	165548196	7	5	257	1	0	1	0	1	0	0	0	0	1358	1493	52	0	1194	0	BCHE	3	165548196	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	642133	165548196	32474234	377	127309											
ZBBX	79740	broad.mit.edu	37	chr3	167000177	167000177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctagatgatgattgagcAgctgcacttcttgatcgagg	12	8	2	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:167000177A>G	uc003fep.2	-	19	2309	c.1986T>C	c.(1984-1986)GCT>GCC	p.A662A	ZBBX_uc011bpc.1_Silent_p.A701A|ZBBX_uc003feq.2_Silent_p.A633A	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	662	Ser-rich.					intracellular	zinc ion binding			ovary(2)	2						ATGATTGAGCAGCTGCACTTC	0.388													G	167000177	A	G	167000177	2	3	257	1	0	0	0	0	0	0	0	1	17513	175	7	3		3	ZBBX	3	167000177	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1451981	167000177	31022253	378	127310											
WDR49	151790	broad.mit.edu	37	chr3	167246889	167246889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatctcctgtggtaaggTatcgattcatcttatcagta	8	8	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:167246889T>C	uc003fev.1	-	10	1607	c.1301A>G	c.(1300-1302)TAC>TGC	p.Y434C	WDR49_uc003feu.1_Missense_Mutation_p.Y259C|WDR49_uc011bpd.1_Missense_Mutation_p.Y498C|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	434	WD 7.									large_intestine(1)|ovary(1)|skin(1)	3						TGTGGTAAGGTATCGATTCAT	0.343													C	167246889	T	C	167246889	3	2	257	1	0	0	0	0	1	0	0	0	17299	1638	57	3	816	3	WDR49	3	167246889	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	246712	167246889	30775541	379	127311											
SERPINI1	5274	broad.mit.edu	37	chr3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-													tcaatgggatatgacagcctAaaaaatggtaagagtgatca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:167507158_167507158TA>T	uc003ffa.4	+	1	440	c.242_242TA>T	c.(241-243)ctafs	p.L81fs	SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L81Q(2)|p.S80I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATGACAGCCTAAAAAATGGT	0.388													-	167507159	A	-	167507159	7	5	257	1	0	1	0	1	0	0	0	0	14118	349	13	0	245	0	SERPINI1	3	167507159	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	260270	167507159	30515271	380	127312											
LRRIQ4	344657	broad.mit.edu	37	chr3	169546704	169546704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacctatgtgccagaacAcattaggaaactgcaggtaa	8	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:169546704A>G	uc003fgb.2	+	2	1178	c.1178A>G	c.(1177-1179)CAC>CGC	p.H393R		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	393	LRR 16.										0						GTGCCAGAACACATTAGGAAA	0.443													G	169546704	A	G	169546704	3	3	257	1	0	0	0	0	1	0	0	0	9031	159	6	3	1184	3	LRRIQ4	3	169546704	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2039545	169546704	28475726	381	127313											
EIF5A2	56648	broad.mit.edu	37	chr3	170625432	170625432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcaagggtacttaccTtggcatgaccatgctttcca	9	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:170625432T>C	uc003fhd.2	-	2	294	c.164A>G	c.(163-165)AAG>AGG	p.K55R		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	eIF-5A2 protein	55					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity				0	all_cancers(22;1.61e-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;9.8e-16)|Lung(28;4.28e-15)			GGTACTTACCTTGGCATGACC	0.443													C	170625432	T	C	170625432	3	2	257	1	0	0	0	0	1	0	0	0	5042	1623	56	3	313	3	EIF5A2	3	170625432	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1078728	170625432	27396998	382	127314											
FNDC3B	64778	broad.mit.edu	37	chr3	172070675	172070676	+	Frame_Shift_Del	DEL	CT	CT	-													tgcccctgaccccgtctccaCtctctgtgtcctggaggagg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:172070674_172070675ACT>A	uc003fhy.3	+	21	2768_2769	c.2596_2597ACT>A	c.(2596-2598)actfs	p.T866fs	FNDC3B_uc003fhz.4_Frame_Shift_Del_p.T866fs	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	866	Fibronectin type-III 7.					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)		CCCCGTCTCCACTCTCTGTGTC	0.559													-	172070676	CT	-	172070675	7	5	257	1	0	1	0	1	0	0	0	0	5970	565	20	0	2679	0	FNDC3B	3	172070675	Frame_Shift_Del	DEL	CT	TCGA-HU-8602-01A-11D-2394-08	1445243	172070675	25951755	383	127315											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	257	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	6881410	178952085	19070345	384	127316											
FXR1	8087	broad.mit.edu	37	chr3	180669105	180669105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacaaaacaacttgcagCagcttttcatgaggaatttg	9	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:180669105C>T	uc003fkq.2	+	8	672	c.650C>T	c.(649-651)GCA>GTA	p.A217V	FXR1_uc003fkp.2_Missense_Mutation_p.A132V|FXR1_uc003fkr.2_Missense_Mutation_p.A217V|FXR1_uc011bqj.1_Missense_Mutation_p.A131V|FXR1_uc003fks.2_Missense_Mutation_p.A131V|FXR1_uc011bqk.1_Missense_Mutation_p.A168V|FXR1_uc011bql.1_Missense_Mutation_p.A204V	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	217					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CAACTTGCAGCAGCTTTTCAT	0.333													T	180669105	C	T	180669105	3	4	257	1	0	0	0	0	1	0	0	0	6115	710	25	2	680	2	FXR1	3	180669105	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1717020	180669105	17353325	385	127317											
ATP11B	23200	broad.mit.edu	37	chr3	182631688	182631688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaagtgcttggactccAtgtgctgtttcccggaagga	12	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:182631688A>G	uc003flb.2	+	29	3615	c.3358A>G	c.(3358-3360)ATG>GTG	p.M1120V	ATP11B_uc003flc.2_Missense_Mutation_p.M704V|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_3'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1120	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3	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)			CTTGGACTCCATGTGCTGTTT	0.453													G	182631688	A	G	182631688	3	3	257	1	0	0	0	0	1	0	0	0	1120	217	8	3	3472	3	ATP11B	3	182631688	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1962583	182631688	15390742	386	127318											
DCUN1D1	54165	broad.mit.edu	37	chr3	182679028	182679028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttacctaatcctttttgtCctggattctttgcaaaatta	4	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:182679028C>T	uc003fld.1	-	4	555	c.506G>A	c.(505-507)GGA>GAA	p.G169E	DCUN1D1_uc011bqn.1_Missense_Mutation_p.G26E	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	169	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCCTTTTTGTCCTGGATTCTT	0.299													T	182679028	C	T	182679028	3	4	257	1	0	0	0	0	1	0	0	0	4313	855	30	4	289	4	DCUN1D1	3	182679028	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	47340	182679028	15343402	387	127319											
EIF2B5	8893	broad.mit.edu	37	chr3	183858374	183858374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagagctgcactcatTcccggcacaacatctaccga	6	18	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:183858374T>C	uc003fmp.2	+	7	1376	c.1012T>C	c.(1012-1014)TCC>CCC	p.S338P	EIF2B5_uc003fmq.2_Missense_Mutation_p.S59P|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	338					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			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGCACTCATTCCCGGCACAA	0.587													C	183858374	T	C	183858374	3	2	257	1	0	0	0	0	1	0	0	0	5004	1783	62	3	1038	3	EIF2B5	3	183858374	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1179346	183858374	14164056	388	127320											
FAM131A	131408	broad.mit.edu	37	chr3	184062596	184062596	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcgcccctcacagagtcCtgcctttcccccgcggagga	9	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:184062596C>A	uc003fog.2	+	3	2210	c.846C>A	c.(844-846)TCC>TCA	p.S282S	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.S228S|FAM131A_uc003foe.2_Silent_p.S228S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	282						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACAGAGTCCTGCCTTTCCC	0.672													A	184062596	C	A	184062596	2	1	257	1	0	0	0	0	0	0	0	1	5439	668	24	5		5	FAM131A	3	184062596	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	204222	184062596	13959834	389	127321											
THPO	7066	broad.mit.edu	37	chr3	184093704	184093704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaggacatgggagtcaCgaagcagtttactgaggact	14	6	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:184093704C>T	uc003fol.1	-	3	328	c.113G>A	c.(112-114)CGT>CAT	p.R38H	THPO_uc003fom.1_Missense_Mutation_p.R38H|THPO_uc003fon.2_Missense_Mutation_p.R38H|THPO_uc011bro.1_Missense_Mutation_p.R38H|THPO_uc003fop.2_Missense_Mutation_p.R38H|THPO_uc011brp.1_Missense_Mutation_p.R38H|THPO_uc011brq.1_Missense_Mutation_p.R38H|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.R38H|THPO_uc003fou.1_Missense_Mutation_p.R38H	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	38					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGGAGTCACGAAGCAGTTT	0.532													T	184093704	C	T	184093704	3	4	257	1	0	0	0	0	1	0	0	0	15869	536	19	1	964	1	THPO	3	184093704	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	31108	184093704	13928726	390	127322											
LIPH	200879	broad.mit.edu	37	chr3	185252860	185252860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcacatttagtcccGtaccaaccactgcactgtga	6	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:185252860G>A	uc003fpm.2	-	2	220	c.110C>T	c.(109-111)ACG>ATG	p.T37M	LIPH_uc010hyh.2_Missense_Mutation_p.T37M	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	lipase, member H precursor	37					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(1)|pancreas(1)	2	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATTTAGTCCCGTACCAACCAC	0.453													A	185252860	G	A	185252860	3	1	257	1	0	0	0	0	1	0	0	0	8824	1145	40	1	1281	1	LIPH	3	185252860	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1159156	185252860	12769570	391	127323											
RTP1	132112	broad.mit.edu	37	chr3	186917853	186917853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctctttccgtagctccGtataagattccgtggttggg	11	9	1	1	rs144665722		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:186917853G>A	uc003frg.2	+	2	817	c.787G>A	c.(787-789)GTA>ATA	p.V263I		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	263	Extracellular (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCGTAGCTCCGTATAAGATTC	0.547													A	186917853	G	A	186917853	3	1	257	1	0	0	0	0	1	0	0	0	13733	1145	40	1	793	1	RTP1	3	186917853	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1664993	186917853	11104577	392	127324											
RTP2	344892	broad.mit.edu	37	chr3	187416493	187416493	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaacgatgccctcctggcaGgcctcacagaactctgcacg	10	15	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:187416493G>T	uc003fro.1	-	2	900	c.471C>A	c.(469-471)GCC>GCA	p.A157A		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	157	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCTCCTGGCAGGCCTCACAGA	0.672													T	187416493	G	T	187416493	2	4	257	1	0	0	0	0	0	0	0	1	13734	987	35	5		5	RTP2	3	187416493	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	498640	187416493	10605937	393	127325											
LPP	4026	broad.mit.edu	37	chr3	188327441	188327442	+	Frame_Shift_Ins	INS	-	-	G													tgcagcagggccaggctatgINSggggcagaaatgactctgac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:188327440_188327441T>TG	uc003frs.2	+	5	1167_1168	c.921_922T>TG	c.(919-924)tatgggfs	p.Y307fs	LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Frame_Shift_Ins_p.Y307fs|LPP_uc003frt.3_Frame_Shift_Ins_p.Y307fs|LPP_uc011bsj.2_Frame_Shift_Ins_p.Y144fs	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	307	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.G308R(1)	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)		GGCCAGGCTATGGGGGCAGAAA	0.559			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								G	188327442	-	G	188327441	7	5	257	1	0	1	1	0	0	0	0	0	8923	1348	47	0	936	0	LPP	3	188327441	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	910948	188327441	9694989	394	127326											
LRRC15	131578	broad.mit.edu	37	chr3	194080099	194080099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcagcaacagccgacGcaggcagccagggagcaggc	15	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:194080099G>A	uc003ftu.2	-	2	1760	c.1674C>T	c.(1672-1674)TGC>TGT	p.C558C	LRRC15_uc003ftt.2_Silent_p.C564C	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	558	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AACAGCCGACGCAGGCAGCCA	0.612													A	194080099	G	A	194080099	2	1	257	1	0	0	0	0	0	0	0	1	8970	1079	38	1		1	LRRC15	3	194080099	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5752658	194080099	3942331	395	127327											
FAM43A	131583	broad.mit.edu	37	chr3	194407692	194407692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcgtgccccgaaggcgCgcttagccgggtgggcagca	19	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:194407692C>T	uc003fuj.2	+	1	1071	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	46										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CCCGAAGGCGCGCTTAGCCGG	0.682													T	194407692	C	T	194407692	3	4	257	1	0	0	0	0	1	0	0	0	5562	768	27	1	139	1	FAM43A	3	194407692	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	327593	194407692	3614738	396	127328											
MUC4	4585	broad.mit.edu	37	chr3	195516403	195516403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggtgggtgcgtcctgaGgaacaatttctgagggcgag	16	6	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:195516403G>A	uc011bto.1	-	2	2508	c.2048C>T	c.(2047-2049)CCT>CTT	p.P683L	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.P565L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	688					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		TGCGTCCTGAGGAACAATTTC	0.602													A	195516403	G	A	195516403	3	1	257	1	0	0	0	0	1	0	0	0	9978	1000	35	4		4	MUC4	3	195516403	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1108711	195516403	2506027	397	127329											
TNK2	10188	broad.mit.edu	37	chr3	195595140	195595140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggccctggctgggccCggcagggacccccgcgccca	16	18	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:195595140C>T	uc003fvu.1	-	12	2527	c.1984G>A	c.(1984-1986)GGG>AGG	p.G662R	TNK2_uc003fvq.1_Missense_Mutation_p.G69R|TNK2_uc003fvr.1_Missense_Mutation_p.G187R|TNK2_uc003fvs.1_Missense_Mutation_p.G694R|TNK2_uc003fvt.1_Missense_Mutation_p.G740R|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	662	Pro-rich.			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			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	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)	TGGCTGGGCCCGGCAGGGACC	0.706													T	195595140	C	T	195595140	3	4	257	1	0	0	0	0	1	0	0	0	16315	652	23	1	1148	1	TNK2	3	195595140	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	78737	195595140	2427290	398	127330											
WHSC1	7468	broad.mit.edu	37	chr4	1953859	1953859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaagccgggcagcctcCtgctctgtgaaggaccctgc	14	13	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:1953859C>T	uc003gdz.3	+	11	2214	c.2038C>T	c.(2038-2040)CTG>TTG	p.L680L	WHSC1_uc003geb.3_Silent_p.L680L|WHSC1_uc003gec.3_Silent_p.L680L|WHSC1_uc003ged.3_Silent_p.L680L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_5'UTR	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	680	PHD-type 1.				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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGCAGCCTCCTGCTCTGTGA	0.657			T	IGH@	MM								T	1953859	C	T	1953859	2	4	257	1	0	0	0	0	0	0	0	1	17359	680	24	4		4	WHSC1	4	1953859	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08		1953859	189200417	399	127331											
WHSC1	7468	broad.mit.edu	37	chr4	1957027	1957027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaggggaagcgacaccaCgcccacgtcaacgtgagctg	14	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:1957027C>T	uc003gdz.3	+	13	2654	c.2478C>T	c.(2476-2478)CAC>CAT	p.H826H	WHSC1_uc003geb.3_Silent_p.H826H|WHSC1_uc003gec.3_Silent_p.H826H|WHSC1_uc003ged.3_Silent_p.H826H|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.H45H|WHSC1_uc011bvh.1_Translation_Start_Site|WHSC1_uc010icf.2_Silent_p.H174H	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	826					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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGCGACACCACGCCCACGTCA	0.612			T	IGH@	MM								T	1957027	C	T	1957027	2	4	257	1	0	0	0	0	0	0	0	1	17359	535	19	1		1	WHSC1	4	1957027	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3168	1957027	189197249	400	127332											
POLN	353497	broad.mit.edu	37	chr4	2073999	2073999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgtccccatgagcggcCggcactcaggctcaccttga	12	15	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:2073999C>T	uc003ger.2	-	24	2545	c.2545G>A	c.(2545-2547)GGC>AGC	p.G849S	POLN_uc010icg.1_Missense_Mutation_p.G288S	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	849					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CATGAGCGGCCGGCACTCAGG	0.706								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	2073999	C	T	2073999	3	4	257	1	0	0	0	0	1	0	0	0	12207	652	23	1	161	1	POLN	4	2073999	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	116972	2073999	189080277	401	127333											
ZFYVE28	57732	broad.mit.edu	37	chr4	2273491	2273491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctccaaggccgcactcCgcagagtctgggtgactagt	12	13	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:2273491C>T	uc003gex.1	-	11	2658	c.2339G>A	c.(2338-2340)CGG>CAG	p.R780Q	ZFYVE28_uc011bvk.1_Missense_Mutation_p.R710Q|ZFYVE28_uc011bvl.1_Missense_Mutation_p.R750Q|ZFYVE28_uc003gew.1_Missense_Mutation_p.R666Q	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	780					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						GGCCGCACTCCGCAGAGTCTG	0.627													T	2273491	C	T	2273491	3	4	257	1	0	0	0	0	1	0	0	0	17667	652	23	1	336	1	ZFYVE28	4	2273491	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	199492	2273491	188880785	402	127334											
MFSD10	10227	broad.mit.edu	37	chr4	2934080	2934080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaccacagccctacccGtttctccaggggcagcgtct	9	18	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:2934080G>A	uc003gfw.2	-	5	1005	c.691C>T	c.(691-693)CGG>TGG	p.R231W	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Missense_Mutation_p.R55W|MFSD10_uc003gfz.2_Missense_Mutation_p.R231W|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.R231W|MFSD10_uc003ggb.1_Missense_Mutation_p.R231W|MFSD10_uc003ggc.2_Missense_Mutation_p.R231W|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	231					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGCCCTACCCGTTTCTCCAGG	0.622													A	2934080	G	A	2934080	3	1	257	1	0	0	0	0	1	0	0	0	9528	1144	40	1	708	1	MFSD10	4	2934080	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	660589	2934080	188220196	403	127335											
RGS12	6002	broad.mit.edu	37	chr4	3319330	3319330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactgggcccttctgtcCggaccccgaagggagccccc	13	17	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:3319330C>T	uc003ggw.2	+	2	2337	c.1433C>T	c.(1432-1434)CCG>CTG	p.P478L	RGS12_uc003ggu.2_Missense_Mutation_p.P478L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.P478L|RGS12_uc003ggx.1_Missense_Mutation_p.P478L	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	478						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCTTCTGTCCGGACCCCGAA	0.687													T	3319330	C	T	3319330	3	4	257	1	0	0	0	0	1	0	0	0	13295	652	23	1	1435	1	RGS12	4	3319330	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	385250	3319330	187834946	404	127336											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	8	21	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:3443797C>G	uc003ghc.2	+	1	72	c.69C>G	c.(67-69)CTC>CTG	p.L23L	HGFAC_uc010icw.2_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													G	3443797	C	G	3443797	2	3	257	1	0	0	0	0	0	0	0	1	7086	842	30	5		5	HGFAC	4	3443797	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	124467	3443797	187710479	405	127337											
HGFAC	3083	broad.mit.edu	37	chr4	3450979	3450979	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagggggactcaggggggCccctggcctgcgagaagaac	17	13	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:3450979C>G	uc003ghc.2	+	14	1804	c.1801C>G	c.(1801-1803)CCC>GCC	p.P601A	HGFAC_uc010icw.2_Missense_Mutation_p.P608A	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	601	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTCAGGGGGGCCCCTGGCCTG	0.692													G	3450979	C	G	3450979	3	3	257	1	0	0	0	0	1	0	0	0	7086	739	26	5	1855	5	HGFAC	4	3450979	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7182	3450979	187703297	406	127338											
ZBTB49	166793	broad.mit.edu	37	chr4	4304473	4304473	+	Frame_Shift_Del	DEL	A	A	-													ctgtcaagcagatgaggctcAaaaaggccattcatctgaag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:4304473delA	uc003ghu.2	+	3	1085	c.910delA	c.(910-912)AAAfs	p.K304fs	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Frame_Shift_Del_p.K4fs	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						GATGAGGCTCAAAAAGGCCAT	0.488													-	4304473	A	-	4304473	7	5	257	1	0	1	0	1	0	0	0	0	17547	131	5	0	916	0	ZBTB49	4	4304473	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	853494	4304473	186849803	407	127339											
EVC	2121	broad.mit.edu	37	chr4	5733255	5733255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttccagcagtctggggaGcctgagccagggtgagaagg	16	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:5733255G>T	uc003gil.1	+	4	672	c.488G>T	c.(487-489)AGC>ATC	p.S163I	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	163					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AGTCTGGGGAGCCTGAGCCAG	0.607													T	5733255	G	T	5733255	3	4	257	1	0	0	0	0	1	0	0	0	5285	971	34	5	502	5	EVC	4	5733255	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1428782	5733255	185421021	408	127340											
MAN2B2	23324	broad.mit.edu	37	chr4	6599981	6599981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggtgagagacatgtaCgcaacgcacctggcctcggg	13	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:6599981C>T	uc003gjf.1	+	9	1341	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	MAN2B2_uc003gje.1_Silent_p.Y435Y|MAN2B2_uc011bwf.1_Silent_p.Y384Y	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	435					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						GAGACATGTACGCAACGCACC	0.632													T	6599981	C	T	6599981	2	4	257	1	0	0	0	0	0	0	0	1	9217	547	19	1		1	MAN2B2	4	6599981	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	866726	6599981	184554295	409	127341											
MAN2B2	23324	broad.mit.edu	37	chr4	6610942	6610942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctgttcacaccgggcaaGgccgcggtgcctgcgtggga	15	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:6610942G>T	uc003gjf.1	+	12	1959	c.1923G>T	c.(1921-1923)AAG>AAT	p.K641N	MAN2B2_uc003gje.1_Missense_Mutation_p.K641N|MAN2B2_uc011bwf.1_Missense_Mutation_p.K590N	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	641					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CACCGGGCAAGGCCGCGGTGC	0.592													T	6610942	G	T	6610942	3	4	257	1	0	0	0	0	1	0	0	0	9217	991	35	5	1969	5	MAN2B2	4	6610942	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	10961	6610942	184543334	410	127342											
SORCS2	57537	broad.mit.edu	37	chr4	7533275	7533275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcatcagatttcgggacGtcctacaccaagctcaccct	8	14	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:7533275G>A	uc003gkb.3	+	3	567	c.567G>A	c.(565-567)ACG>ACA	p.T189T	SORCS2_uc011bwi.1_Silent_p.T17T	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	189	BNR 1.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						ATTTCGGGACGTCCTACACCA	0.602													A	7533275	G	A	7533275	2	1	257	1	0	0	0	0	0	0	0	1	14931	1132	40	1		1	SORCS2	4	7533275	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	922333	7533275	183621001	411	127343											
CPEB2	132864	broad.mit.edu	37	chr4	15054156	15054156	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaatggagagcgaatagaAcgcttctctcgaaaagtttt	9	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:15054156A>G	uc003gni.1	+	6	1071	c.984A>G	c.(982-984)GAA>GAG	p.E328E	CPEB2_uc003gnj.1_Silent_p.E298E|CPEB2_uc003gnk.1_Silent_p.E336E|CPEB2_uc003gnl.1_Silent_p.E309E|CPEB2_uc003gnm.1_Silent_p.E306E|CPEB2_uc003gnn.1_Silent_p.E301E	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	328					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						AGCGAATAGAACGCTTCTCTC	0.368													G	15054156	A	G	15054156	2	3	257	1	0	0	0	0	0	0	0	1	3801	40	2	3		3	CPEB2	4	15054156	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	7520881	15054156	176100120	412	127344											
FGFBP1	9982	broad.mit.edu	37	chr4	15938205	15938205	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctccaccaggagcacCtgagcagccagtaggaggaa	11	14	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:15938205C>A	uc003gom.2	-	2	169	c.51G>T	c.(49-51)CAG>CAT	p.Q17H		NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	17					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0						CCAGGAGCACCTGAGCAGCCA	0.512													A	15938205	C	A	15938205	3	1	257	1	0	0	0	0	1	0	0	0	5860	680	24	5	657	5	FGFBP1	4	15938205	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	884049	15938205	175216071	413	127345											
GPR125	166647	broad.mit.edu	37	chr4	22389706	22389706	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcacgcttccttccacgctCgttgggacatcgtaggcata	10	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:22389706C>T	uc003gqm.1	-	19	3853	c.3588G>A	c.(3586-3588)ACG>ACA	p.T1196T	GPR125_uc010ieo.1_Silent_p.T1052T|GPR125_uc003gql.1_Silent_p.T323T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1196	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CTTCCACGCTCGTTGGGACAT	0.517													T	22389706	C	T	22389706	2	4	257	1	0	0	0	0	0	0	0	1	6639	871	31	1		1	GPR125	4	22389706	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6451501	22389706	168764570	414	127346											
DHX15	1665	broad.mit.edu	37	chr4	24534668	24534668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcataacaccactgaaccGattcatgatctaaaaaggta	6	9	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:24534668G>A	uc003gqx.2	-	12	2087	c.1919C>T	c.(1918-1920)TCG>TTG	p.S640L	DHX15_uc003gqv.2_Missense_Mutation_p.S46L|DHX15_uc003gqw.2_Missense_Mutation_p.S63L	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	640					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				CCACTGAACCGATTCATGATC	0.388													A	24534668	G	A	24534668	3	1	257	1	0	0	0	0	1	0	0	0	4501	1059	37	1	480	1	DHX15	4	24534668	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2144962	24534668	166619608	415	127347											
KLF3	51274	broad.mit.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-													ccttcttccagcccaccgatAaaaaaatactcacccccttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:38690460delA	uc003gth.3	+	3	644	c.312delA	c.(310-312)ATAfs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						GCCCACCGATAAAAAAATACT	0.617													-	38690460	A	-	38690460	7	5	257	1	0	1	0	1	0	0	0	0	8347	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	14155792	38690460	152463816	416	127348											
TLR1	7096	broad.mit.edu	37	chr4	38799940	38799940	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccccataagtctctccTaagaccagcaagaccttgct	5	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:38799940T>C	uc003gtl.2	-	4	787	c.513A>G	c.(511-513)TTA>TTG	p.L171L		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	171	Extracellular (Potential).				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			lung(2)|skin(2)|prostate(1)	5						AAGTCTCTCCTAAGACCAGCA	0.418													C	38799940	T	C	38799940	2	2	257	1	0	0	0	0	0	0	0	1	15946	1519	53	3		3	TLR1	4	38799940	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	109480	38799940	152354336	417	127349											
SLC30A9	10463	broad.mit.edu	37	chr4	42041027	42041027	+	Frame_Shift_Del	DEL	T	T	-													gctccagaacagcatcagtgTtttttaagggaccaggaaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:42041026_42041026GT>G	uc003gwl.3	+	7	839	c.693_693GT>G	c.(691-693)gtgfs	p.V231fs	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	231					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						CAGCATCAGTGTTTTTTAAGG	0.338													-	42041027	T	-	42041027	7	5	257	1	0	1	0	1	0	0	0	0	14562	1725	60	0	724	0	SLC30A9	4	42041027	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	3241087	42041027	149113249	418	127350											
BEND4	389206	broad.mit.edu	37	chr4	42119657	42119657	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccgcccgcccctgtcGggcgtgaccgacagcgtcgc	12	21	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:42119657G>A	uc003gwn.2	-	6	2063	c.1483C>T	c.(1483-1485)CGA>TGA	p.R495*	BEND4_uc003gwm.2_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	495	BEN.										0						CGCCCCTGTCGGGCGTGACCG	0.522													A	42119657	G	A	42119657	4	1	257	1	0	0	0	0	0	1	0	0	1400	1124	39	1	125	1	BEND4	4	42119657	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	78630	42119657	149034619	419	127351											
PDGFRA	5156	broad.mit.edu	37	chr4	54250025	54250025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactataggagacattaaaaCgggagcaccacagtatgggt	11	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:54250025C>T	uc003haa.2	+	5	500	c.314C>T	c.(313-315)ACG>ATG	p.T105M	FIP1L1_uc003gzx.3_Missense_Mutation_p.T90M|FIP1L1_uc011bzt.1_Missense_Mutation_p.T105M|FIP1L1_uc003gzy.2_Missense_Mutation_p.T105M|FIP1L1_uc011bzu.1_Missense_Mutation_p.T90M|FIP1L1_uc003gzz.2_Missense_Mutation_p.T90M|FIP1L1_uc003hab.2_Missense_Mutation_p.T93M|FIP1L1_uc003hac.2_Intron	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:Variant_position_missing_in_P16234_after_alignment					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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	GACATTAAAACGGGAGCACCA	0.274			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	54250025	C	T	54250025	3	4	257	1	0	0	0	0	1	0	0	0	11661	536	19	1		1	PDGFRA	4	54250025	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	12130368	54250025	136904251	420	127352											
REST	5978	broad.mit.edu	37	chr4	57796802	57796802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatcaagtaagaaaagcaGtaagcctcctcagaaggaac	8	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:57796802G>A	uc003hch.2	+	4	2125	c.1778G>A	c.(1777-1779)AGT>AAT	p.S593N	REST_uc003hci.2_Missense_Mutation_p.S593N|REST_uc010ihf.2_Missense_Mutation_p.S267N	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	593	Lys-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			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					AAGAAAAGCAGTAAGCCTCCT	0.453													A	57796802	G	A	57796802	3	1	257	1	0	0	0	0	1	0	0	0	13234	1029	36	4	1788	4	REST	4	57796802	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3546777	57796802	133357474	421	127353											
EPHA5	2044	broad.mit.edu	37	chr4	66233108	66233108	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaatgcatcttttcctcttCtggatcttgttttgctttgc	6	9	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:66233108C>T	uc003hcy.2	-	10	2084	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K	EPHA5_uc003hcx.2_Missense_Mutation_p.E563K|EPHA5_uc003hcz.2_Missense_Mutation_p.E609K|EPHA5_uc011cah.1_Missense_Mutation_p.E632K|EPHA5_uc011cai.1_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	631	Cytoplasmic (Potential).				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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)			T	66233108	C	T	66233108	3	4	257	1	0	0	0	0	1	0	0	0	5170	922	32	4	1258	4	EPHA5	4	66233108	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8436306	66233108	124921168	422	127354											
UGT2B11	10720	broad.mit.edu	37	chr4	70070285	70070285	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaaacaatggaatgccCaccatagggatcccatggta	8	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:70070285C>A	uc003heh.2	-	5	1182	c.1173G>T	c.(1171-1173)GTG>GTT	p.V391V	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	391					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						ATGGAATGCCCACCATAGGGA	0.438													A	70070285	C	A	70070285	2	1	257	1	0	0	0	0	0	0	0	1	16954	581	21	5		5	UGT2B11	4	70070285	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3837177	70070285	121083991	423	127355											
UTP3	57050	broad.mit.edu	37	chr4	71554418	71554418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggagatcccggcggcgCggagcagctaagtgggcagc	20	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:71554418C>T	uc003hfo.2	+	1	223	c.24C>T	c.(22-24)CGC>CGT	p.R8R		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	8					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)			CCCGGCGGCGCGGAGCAGCTA	0.612													T	71554418	C	T	71554418	2	4	257	1	0	0	0	0	0	0	0	1	17098	755	27	1		1	UTP3	4	71554418	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1484133	71554418	119599858	424	127356											
SHROOM3	57619	broad.mit.edu	37	chr4	77678005	77678005	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggaaggtttgtttcccCgagatgtgaacttgctgaag	13	6	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:77678005C>T	uc011cbx.1	+	8	6066	c.5113C>T	c.(5113-5115)CGA>TGA	p.R1705*	SHROOM3_uc003hkg.2_Nonsense_Mutation_p.R1483*	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1705	ASD2.				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			skin(2)|ovary(1)	3			Lung(101;0.0903)			TTTGTTTCCCCGAGATGTGAA	0.473													T	77678005	C	T	77678005	4	4	257	1	0	0	0	0	0	1	0	0	14295	644	23	1	5143	1	SHROOM3	4	77678005	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6123587	77678005	113476271	425	127357											
CNOT6L	246175	broad.mit.edu	37	chr4	78669516	78669516	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaatgtaatccatggcctCggaggaagctgctctggatg	12	8	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:78669516C>T	uc011ccd.1	-	6	644	c.513G>A	c.(511-513)CCG>CCA	p.P171P	CNOT6L_uc003hks.2_Silent_p.P171P|CNOT6L_uc003hkt.1_Silent_p.P14P|CNOT6L_uc011cce.1_Silent_p.P171P	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	171					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						TCCATGGCCTCGGAGGAAGCT	0.303													T	78669516	C	T	78669516	2	4	257	1	0	0	0	0	0	0	0	1	3623	871	31	1		1	CNOT6L	4	78669516	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	991511	78669516	112484760	426	127358											
BMP2K	55589	broad.mit.edu	37	chr4	79832739	79832739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactttgaagcctacctatcGcactccagagagggctcgca	10	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:79832739G>A	uc003hlk.2	+	16	3204	c.3038G>A	c.(3037-3039)CGC>CAC	p.R1013H	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	1013						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						CCTACCTATCGCACTCCAGAG	0.488													A	79832739	G	A	79832739	3	1	257	1	0	0	0	0	1	0	0	0	1460	1087	38	1	3138	1	BMP2K	4	79832739	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1163223	79832739	111321537	427	127359											
C4orf22	255119	broad.mit.edu	37	chr4	81256977	81256977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattgtcactcaattcaacGcctatgaagatttcctggac	6	10	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:81256977G>A	uc003hmf.2	+	1	104	c.55G>A	c.(55-57)GCC>ACC	p.A19T	C4orf22_uc010ijp.2_Missense_Mutation_p.A19T	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	19										skin(2)	2						TCAATTCAACGCCTATGAAGA	0.582											OREG0016247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	81256977	G	A	81256977	3	1	257	1	0	0	0	0	1	0	0	0	2255	1087	38	1	57	1	C4orf22	4	81256977	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1424238	81256977	109897299	428	127360											
COQ2	27235	broad.mit.edu	37	chr4	84194759	84194759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggctattggacgattggcTgttcttgtaaccttaaaaca	10	8	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:84194759T>C	uc003hog.2	-	3	479	c.471A>G	c.(469-471)ACA>ACG	p.T157T	COQ2_uc011ccp.1_RNA|COQ2_uc003hof.2_RNA|COQ2_uc003hoh.1_Silent_p.T157T	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	para-hydroxybenzoate-polyprenyltransferase,	144					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			ovary(1)|central_nervous_system(1)	2		Hepatocellular(203;0.114)				GACGATTGGCTGTTCTTGTAA	0.403													C	84194759	T	C	84194759	2	2	257	1	0	0	0	0	0	0	0	1	3745	1567	55	3		3	COQ2	4	84194759	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2937782	84194759	106959517	429	127361											
NHEDC1	150159	broad.mit.edu	37	chr4	103832695	103832695	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttattaagtataccacCtgtaggggcacacaataaaa	9	8	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:103832695C>A	uc003hww.2	-	8	952	c.830_splice	c.e8-1	p.G277_splice	NHEDC1_uc003hwu.2_Splice_Site_p.G277_splice|NHEDC1_uc010ilm.2_Splice_Site_p.G44_splice|NHEDC1_uc003hwv.2_Splice_Site|NHEDC1_uc011cev.1_Splice_Site_p.G50_splice	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1							integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		AGTATACCACCTGTAGGGGCA	0.358													A	103832695	C	A	103832695	5	1	257	1	0	0	0	0	0	0	1	0	10400	695	24	5	838	5	NHEDC1	4	103832695	Splice_Site	SNP	C	TCGA-HU-8602-01A-11D-2394-08	19637936	103832695	87321581	430	127362											
COL25A1	84570	broad.mit.edu	37	chr4	110223028	110223028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttttcacacccaggtacaGgcaagacaccacggccacca	9	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:110223028G>T	uc003hze.1	-	2	679	c.148C>A	c.(148-150)CTG>ATG	p.L50M	COL25A1_uc003hzg.2_Missense_Mutation_p.L50M|COL25A1_uc003hzh.1_Missense_Mutation_p.L50M	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	50	Helical; Signal-anchor for type II membrane protein; (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCCAGGTACAGGCAAGACACC	0.642													T	110223028	G	T	110223028	3	4	257	1	0	0	0	0	1	0	0	0	3684	991	35	5	2044	5	COL25A1	4	110223028	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6390333	110223028	80931248	431	127363											
RRH	10692	broad.mit.edu	37	chr4	110756541	110756542	+	Frame_Shift_Ins	INS	-	-	T													gtttatgctggattgaatatINStttttttggaatggcaagca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:110756540_110756541A>AT	uc003hzv.3	+	2	350_351	c.316_317A>AT	c.(316-318)attfs	p.I106fs		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	106					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)		TGGATTGAATATTTTTTTTGGA	0.391													T	110756542	-	T	110756541	7	5	257	1	0	1	1	0	0	0	0	0	13680	1493	52	0	327	0	RRH	4	110756541	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	533513	110756541	80397735	432	127364											
PITX2	5308	broad.mit.edu	37	chr4	111539685	111539685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatagggaggcggatgtaaGgcccttggcggcccagttgt	18	8	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:111539685G>T	uc003iad.2	-	5	1132	c.550C>A	c.(550-552)CTT>ATT	p.L184I	PITX2_uc003iac.2_Missense_Mutation_p.L191I|PITX2_uc003iae.2_Missense_Mutation_p.L138I|PITX2_uc010iml.2_Missense_Mutation_p.L55I|PITX2_uc003iaf.2_Missense_Mutation_p.L184I	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	184					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGGATGTAAGGCCCTTGGCG	0.542													T	111539685	G	T	111539685	3	4	257	1	0	0	0	0	1	0	0	0	11955	1000	35	5	407	5	PITX2	4	111539685	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	783144	111539685	79614591	433	127365											
C4orf21	55345	broad.mit.edu	37	chr4	113524697	113524697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcaagaagtcaatctGcatacacgtgctaggtaact	8	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:113524697G>A	uc003iau.2	-	10	3170	c.2959C>T	c.(2959-2961)CAG>TAG	p.Q987*	C4orf21_uc003iaw.2_Nonsense_Mutation_p.Q987*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGTCAATCTGCATACACGTG	0.353													A	113524697	G	A	113524697	4	1	257	1	0	0	0	0	0	1	0	0	2254	1328	46	2	3431	2	C4orf21	4	113524697	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1985012	113524697	77629579	434	127366											
ANK2	287	broad.mit.edu	37	chr4	114274959	114274959	+	Frame_Shift_Del	DEL	A	A	-													gtgcagagaaagctgaacttAaaaaaggtagttcagaagag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:114274958_114274958TA>T	uc003ibe.4	+	37	5284	c.5184_5184TA>T	c.(5182-5184)cttfs	p.L1728fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.L1743fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1695					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)		AAGCTGAACTTAAAAAAGGTA	0.413													-	114274959	A	-	114274959	7	5	257	1	0	1	0	1	0	0	0	0	621	363	13	0	5400	0	ANK2	4	114274959	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	750262	114274959	76879317	435	127367											
ANK2	287	broad.mit.edu	37	chr4	114275426	114275426	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcacctgtatcaccctcGacaaaaactgaaaggcactc	5	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:114275426G>A	uc003ibe.3	+	38	5752	c.5652G>A	c.(5650-5652)TCG>TCA	p.S1884S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.S1899S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1851	Repeat A.|Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATCACCCTCGACAAAAACTG	0.468													A	114275426	G	A	114275426	2	1	257	1	0	0	0	0	0	0	0	1	621	1045	37	1		1	ANK2	4	114275426	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	467	114275426	76878850	436	127368											
ANK2	287	broad.mit.edu	37	chr4	114294462	114294462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactaggaaaatcattaggCggtatgtatcctctgaaggc	10	7	2	1	rs121912706	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:114294462C>T	uc003ibe.3	+	45	11816	c.11716C>T	c.(11716-11718)CGG>TGG	p.R3906W	ANK2_uc003ibd.3_Missense_Mutation_p.R1812W|ANK2_uc003ibf.3_Missense_Mutation_p.R1821W|ANK2_uc011cgc.1_Missense_Mutation_p.R997W|ANK2_uc003ibg.3_Missense_Mutation_p.R836W|ANK2_uc003ibh.3_Missense_Mutation_p.R526W|ANK2_uc011cgd.1_Missense_Mutation_p.R1208W|ANK2_uc010imr.2_5'UTR|ANK2_uc010ims.2_5'UTR	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3873			R -> W (in LQT4; loss of function).		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	p.R3906Q(1)		central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATCATTAGGCGGTATGTATC	0.388													T	114294462	C	T	114294462	3	4	257	1	0	0	0	0	1	0	0	0	621	759	27	1	11959	1	ANK2	4	114294462	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	19036	114294462	76859814	437	127369											
TNIP3	79931	broad.mit.edu	37	chr4	122078256	122078256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccgcccacctcctccCgctgcagccggtcccgggtc	12	22	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:122078256C>T	uc010ing.2	-	4	552	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	TNIP3_uc010inh.2_Missense_Mutation_p.R119Q|TNIP3_uc011cgj.1_Missense_Mutation_p.R177Q|TNIP3_uc010ini.2_Missense_Mutation_p.R119Q	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	119	Potential.									ovary(1)	1						CACCTCCTCCCGCTGCAGCCG	0.612													T	122078256	C	T	122078256	3	4	257	1	0	0	0	0	1	0	0	0	16313	652	23	1	653	1	TNIP3	4	122078256	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7783794	122078256	69076020	438	127370											
SPRY1	10252	broad.mit.edu	37	chr4	124323694	124323694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctcccggggtcagggTaaaccatcatgatttttgga	11	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:124323694T>C	uc003ifa.2	+	2	1136	c.948T>C	c.(946-948)GGT>GGC	p.G316G	SPRY1_uc003ifb.2_Silent_p.G316G	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	316					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						GGGGTCAGGGTAAACCATCAT	0.428													C	124323694	T	C	124323694	2	2	257	1	0	0	0	0	0	0	0	1	15104	1625	57	3		3	SPRY1	4	124323694	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2245438	124323694	66830582	439	127371											
FAT4	79633	broad.mit.edu	37	chr4	126238513	126238513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctggacttcgaagctcGgcgccaatactcgcttacgg	11	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:126238513G>A	uc003ifj.3	+	1	947	c.947G>A	c.(946-948)CGG>CAG	p.R316Q		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	316	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTCGAAGCTCGGCGCCAATAC	0.632											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126238513	G	A	126238513	3	1	257	1	0	0	0	0	1	0	0	0	5692	1116	39	1	949	1	FAT4	4	126238513	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1914819	126238513	64915763	440	127372											
SCLT1	132320	broad.mit.edu	37	chr4	129891618	129891618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactctcagctctaatttgGcttgcctaaaaaataaagta	5	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:129891618G>T	uc003igp.2	-	10	1198	c.692C>A	c.(691-693)GCC>GAC	p.A231D	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	231	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						CTCTAATTTGGCTTGCCTAAA	0.303													T	129891618	G	T	129891618	3	4	257	1	0	0	0	0	1	0	0	0	13906	1203	42	5	1422	5	SCLT1	4	129891618	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3653105	129891618	61262658	441	127373											
PCDH10	57575	broad.mit.edu	37	chr4	134071702	134071702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatctctgagagcgccaCgccaggcactcgcttcccct	10	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134071702C>T	uc003iha.2	+	1	1233	c.407C>T	c.(406-408)ACG>ATG	p.T136M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T136M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	136	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGAGCGCCACGCCAGGCACT	0.602													T	134071702	C	T	134071702	3	4	257	1	0	0	0	0	1	0	0	0	11507	536	19	1	409	1	PCDH10	4	134071702	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4180084	134071702	57082574	442	127374											
PCDH10	57575	broad.mit.edu	37	chr4	134071743	134071743	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagagcgcattcgacccaGacgtgggcaccaactccttg	12	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134071743G>A	uc003iha.2	+	1	1274	c.448G>A	c.(448-450)GAC>AAC	p.D150N	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D150N	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	150	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTCGACCCAGACGTGGGCAC	0.622													A	134071743	G	A	134071743	3	1	257	1	0	0	0	0	1	0	0	0	11507	942	33	4	450	4	PCDH10	4	134071743	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	41	134071743	57082533	443	127375											
PCDH10	57575	broad.mit.edu	37	chr4	134073210	134073210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcgcaccggggagctgCgcacagcacgccgagtcccg	15	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134073210C>T	uc003iha.2	+	1	2741	c.1915C>T	c.(1915-1917)CGC>TGC	p.R639C	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R639C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	639	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGGGAGCTGCGCACAGCACG	0.677													T	134073210	C	T	134073210	3	4	257	1	0	0	0	0	1	0	0	0	11507	768	27	1	1917	1	PCDH10	4	134073210	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1467	134073210	57081066	444	127376											
PCDH10	57575	broad.mit.edu	37	chr4	134073362	134073362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagccccagggcgggggCgggagcggaggcggagggtc	25	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134073362C>T	uc003iha.2	+	1	2893	c.2067C>T	c.(2065-2067)GGC>GGT	p.G689G	PCDH10_uc003igz.2_Silent_p.G689G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	689	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		Agggcgggggcgggagcggag	0.582													T	134073362	C	T	134073362	2	4	257	1	0	0	0	0	0	0	0	1	11507	755	27	1		1	PCDH10	4	134073362	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	152	134073362	57080914	445	127377											
DCLK2	166614	broad.mit.edu	37	chr4	151141893	151141893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcttcttccaatgtaaaCggtggacctgagcttgaccg	10	10	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:151141893C>T	uc003ilm.3	+	6	1195	c.1095C>T	c.(1093-1095)AAC>AAT	p.N365N	DCLK2_uc003iln.3_Silent_p.N364N|DCLK2_uc003ilo.3_Silent_p.N382N|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	365					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					CCAATGTAAACGGTGGACCTG	0.418													T	151141893	C	T	151141893	2	4	257	1	0	0	0	0	0	0	0	1	4292	535	19	1		1	DCLK2	4	151141893	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	17068531	151141893	40012383	446	127378											
MAB21L2	10586	broad.mit.edu	37	chr4	151504537	151504537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtcgagttcatcacggCgtcgggctatctctcagcgc	13	13	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:151504537C>T	uc003ilw.2	+	1	1461	c.356C>T	c.(355-357)GCG>GTG	p.A119V	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	119					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TTCATCACGGCGTCGGGCTAT	0.612													T	151504537	C	T	151504537	3	4	257	1	0	0	0	0	1	0	0	0	9142	768	27	1	358	1	MAB21L2	4	151504537	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	362644	151504537	39649739	447	127379											
SH3D19	152503	broad.mit.edu	37	chr4	152069114	152069114	+	Frame_Shift_Del	DEL	G	G	-													ggtgtcctggtttgggacgaGggggtagcaccggatcttga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:152069113_152069113AG>A	uc010ipl.1	-	10	2293	c.1203_1203CT>T	c.(1201-1203)cctfs	p.P401fs	SH3D19_uc003imb.2_Frame_Shift_Del_p.P179fs|SH3D19_uc003imc.2_Frame_Shift_Del_p.P365fs|SH3D19_uc003ime.2_Frame_Shift_Del_p.P401fs|SH3D19_uc010ipm.2_Frame_Shift_Del_p.P401fs	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	401					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|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)				GTTTGGGACGAGGGGGTAGCA	0.393													-	152069114	G	-	152069114	7	5	257	1	0	1	0	1	0	0	0	0	14249	1000	35	0	1214	0	SH3D19	4	152069114	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	564577	152069114	39085162	448	127380											
FBXW7	55294	broad.mit.edu	37	chr4	153258955	153258955	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattgataatctttaccTctttagggagcaatgaaatg	8	5	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:153258955T>A	uc003ims.2	-	5	1009	c.860A>T	c.(859-861)GAG>GTG	p.E287V	FBXW7_uc011cii.1_Missense_Mutation_p.E287V|FBXW7_uc003imt.2_Missense_Mutation_p.E287V|FBXW7_uc011cih.1_Missense_Mutation_p.E111V|FBXW7_uc003imq.2_Missense_Mutation_p.E207V|FBXW7_uc003imr.2_Missense_Mutation_p.E169V	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	287	F-box.				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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATCTTTACCTCTTTAGGGAG	0.343			Mis|N|D|F		colorectal|endometrial|T-ALL								A	153258955	T	A	153258955	3	1	257	1	0	0	0	0	1	0	0	0	5769	1565	54	5	1295	5	FBXW7	4	153258955	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1189841	153258955	37895321	449	127381											
TMEM154	201799	broad.mit.edu	37	chr4	153573938	153573938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctaactgattttcatccGgagcaaagttggtagaattt	8	7	2	2	rs147009220		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:153573938G>A	uc003imw.1	-	2	312	c.206C>T	c.(205-207)CCG>CTG	p.P69L		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	transmembrane protein 154 precursor	69	Extracellular (Potential).					integral to membrane					0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATTTTCATCCGGAGCAAAGTT	0.338													A	153573938	G	A	153573938	3	1	257	1	0	0	0	0	1	0	0	0	16068	1116	39	1	369	1	TMEM154	4	153573938	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	314983	153573938	37580338	450	127382											
SFRP2	6423	broad.mit.edu	37	chr4	154709514	154709514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctggcaggaggtggtcGctgctagcgagggggatgca	21	7	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:154709514G>A	uc003inv.1	-	1	715	c.474C>T	c.(472-474)AGC>AGT	p.S158S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	158					brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				GGAGGTGGTCGCTGCTAGCGA	0.667													A	154709514	G	A	154709514	2	1	257	1	0	0	0	0	0	0	0	1	14162	1078	38	1		1	SFRP2	4	154709514	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1135576	154709514	36444762	451	127383											
PLRG1	5356	broad.mit.edu	37	chr4	155458475	155458475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatactttaatggttttaTcagcttcagctgttagtaat	7	5	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:155458475T>C	uc003iny.2	-	14	1511	c.1448A>G	c.(1447-1449)GAT>GGT	p.D483G	PLRG1_uc003inz.2_Missense_Mutation_p.D474G	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	483	WD 7.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGGTTTTATCAGCTTCAGC	0.403													C	155458475	T	C	155458475	3	2	257	1	0	0	0	0	1	0	0	0	12106	1435	50	3	104	3	PLRG1	4	155458475	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	748961	155458475	35695801	452	127384											
PLRG1	5356	broad.mit.edu	37	chr4	155468219	155468219	+	Splice_Site	DEL	A	A	-													agtattcaacttcttgtcctAaaaaaacacaaaaaaaatca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:155468218_155468218TA>T	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACAC	0.308													-	155468219	A	-	155468219	8	5	257	1	0	1	0	1	0	0	1	0	12106	377	13	0		0	PLRG1	4	155468219	Splice_Site	DEL	A	TCGA-HU-8602-01A-11D-2394-08	9744	155468219	35686057	453	127385											
CTSO	1519	broad.mit.edu	37	chr4	156849509	156849509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaacattacttcccatttTgacatgggcataaccatcta	4	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:156849509T>C	uc003ipg.2	-	7	959	c.910A>G	c.(910-912)AAA>GAA	p.K304E		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	304					proteolysis	lysosome	cysteine-type endopeptidase activity				0	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)		CTTCCCATTTTGACATGGGCA	0.343													C	156849509	T	C	156849509	3	2	257	1	0	0	0	0	1	0	0	0	4040	1821	63	3	63	3	CTSO	4	156849509	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1381290	156849509	34304767	454	127386											
GRIA2	2891	broad.mit.edu	37	chr4	158254082	158254082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgcaggagactgtctgGcaaacccagcagtgccctgg	14	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:158254082G>T	uc003ipm.3	+	7	1453	c.994G>T	c.(994-996)GCA>TCA	p.A332S	GRIA2_uc011cit.1_Missense_Mutation_p.A285S|GRIA2_uc003ipl.3_Missense_Mutation_p.A332S|GRIA2_uc003ipk.3_Missense_Mutation_p.A285S|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	332	Extracellular (Potential).				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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGACTGTCTGGCAAACCCAGC	0.473													T	158254082	G	T	158254082	3	4	257	1	0	0	0	0	1	0	0	0	6768	1203	42	5	1020	5	GRIA2	4	158254082	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1404573	158254082	32900194	455	127387											
NAF1	92345	broad.mit.edu	37	chr4	164050264	164050264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaacactggaagaggaaAggggtattgtggcataatgg	15	4	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:164050264A>G	uc003iqj.2	-	8	1464	c.1270T>C	c.(1270-1272)TTT>CTT	p.F424L	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 homolog isoform a	424	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)				GGAAGAGGAAAGGGGTATTGT	0.378													G	164050264	A	G	164050264	3	3	257	1	0	0	0	0	1	0	0	0	10140	72	3	3	359	3	NAF1	4	164050264	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5796182	164050264	27104012	456	127388											
TKTL2	84076	broad.mit.edu	37	chr4	164393458	164393458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgcagtttctggttggcTggttcgaatgaagcacattc	11	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:164393458T>C	uc003iqp.3	-	1	1590	c.1429A>G	c.(1429-1431)AGC>GGC	p.S477G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	477						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTGGTTGGCTGGTTCGAATG	0.443													C	164393458	T	C	164393458	3	2	257	1	0	0	0	0	1	0	0	0	15933	1580	55	3	455	3	TKTL2	4	164393458	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	343194	164393458	26760818	457	127389											
TKTL2	84076	broad.mit.edu	37	chr4	164394838	164394838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggttggctgtgtcccGcagcacctgcacggtcttca	13	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:164394838G>A	uc003iqp.3	-	1	210	c.49C>T	c.(49-51)CGG>TGG	p.R17W		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	17						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCTGTGTCCCGCAGCACCTGC	0.632													A	164394838	G	A	164394838	3	1	257	1	0	0	0	0	1	0	0	0	15933	1086	38	1	1835	1	TKTL2	4	164394838	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1380	164394838	26759438	458	127390											
SH3RF1	57630	broad.mit.edu	37	chr4	170038835	170038835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccctggagcttctgggcaGgccctcctgccgtggaagga	14	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:170038835G>T	uc003isa.1	-	9	1951	c.1616C>A	c.(1615-1617)CCT>CAT	p.P539H	SH3RF1_uc010irc.1_Missense_Mutation_p.P239H	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	539	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTCTGGGCAGGCCCTCCTGC	0.587													T	170038835	G	T	170038835	3	4	257	1	0	0	0	0	1	0	0	0	14258	1000	35	5	1066	5	SH3RF1	4	170038835	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5643997	170038835	21115441	459	127391											
SH3RF1	57630	broad.mit.edu	37	chr4	170057635	170057635	+	Frame_Shift_Del	DEL	T	T	-													gggaagtgaaggagtgccgcTttttggtgttcttcttggtg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:170057634_170057634CT>C	uc003isa.1	-	4	1238	c.903_903AG>G	c.(901-903)aagfs	p.K301fs	SH3RF1_uc010irc.1_Frame_Shift_Del_p.A24fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	301						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)		AGGAGTGCCGCTTTTTGGTGT	0.582													-	170057635	T	-	170057635	7	5	257	1	0	1	0	1	0	0	0	0	14258	1609	56	0	1796	0	SH3RF1	4	170057635	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	18800	170057635	21096641	460	127392											
GPM6A	2823	broad.mit.edu	37	chr4	176594945	176594945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgccatacacaaagaaCgcagctgcgatgccgtagat	9	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:176594945C>T	uc003iuf.2	-	3	1077	c.273G>A	c.(271-273)GCG>GCA	p.A91A	GPM6A_uc011ckj.1_Silent_p.A84A|GPM6A_uc003iug.2_Silent_p.A91A|GPM6A_uc003iuh.2_Silent_p.A80A	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	91	Helical; (Potential).					cell surface|integral to membrane					0		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)		ACACAAAGAACGCAGCTGCGA	0.408													T	176594945	C	T	176594945	2	4	257	1	0	0	0	0	0	0	0	1	6615	523	19	1		1	GPM6A	4	176594945	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6537310	176594945	14559331	461	127393											
NEIL3	55247	broad.mit.edu	37	chr4	178262744	178262744	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggggacaataacagaatgAcatatttctgtcctcactgt	8	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:178262744A>T	uc003iut.2	+	6	934	c.817A>T	c.(817-819)ACA>TCA	p.T273S	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	273	FPG-type.				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			lung(2)|ovary(1)|central_nervous_system(1)	4		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)		TAACAGAATGACATATTTCTG	0.388								BER_DNA_glycosylases					T	178262744	A	T	178262744	3	4	257	1	0	0	0	0	1	0	0	0	10320	275	10	5	839	5	NEIL3	4	178262744	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1667799	178262744	12891532	462	127394											
PDLIM3	27295	broad.mit.edu	37	chr4	186444541	186444541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgattctaagttgattTtgaaaggatgggctttccca	10	6	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:186444541T>C	uc003ixw.3	-	3	429	c.305A>G	c.(304-306)AAA>AGA	p.K102R	PDLIM3_uc003ixx.3_Missense_Mutation_p.K102R|PDLIM3_uc010isi.2_RNA|PDLIM3_uc003ixy.2_Missense_Mutation_p.K102R|PDLIM3_uc003ixz.2_Missense_Mutation_p.K102R	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	102						sarcomere	zinc ion binding			ovary(2)	2		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)		TAAGTTGATTTTGAAAGGATG	0.373													C	186444541	T	C	186444541	3	2	257	1	0	0	0	0	1	0	0	0	11681	1841	64	3	1005	3	PDLIM3	4	186444541	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	8181797	186444541	4709735	463	127395											
SORBS2	8470	broad.mit.edu	37	chr4	186544768	186544768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtcggacacaaccccGtcctggtcgctgtcggaaaa	12	13	0	0	rs140964722	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:186544768G>A	uc003iyl.2	-	13	2661	c.1803C>T	c.(1801-1803)GAC>GAT	p.D601D	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.D701D|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.D505D|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.D715D|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	601						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		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)		ACACAACCCCGTCCTGGTCGC	0.552													A	186544768	G	A	186544768	2	1	257	1	0	0	0	0	0	0	0	1	14928	1136	40	1		1	SORBS2	4	186544768	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	100227	186544768	4609508	464	127396											
TUBB4Q	56604	broad.mit.edu	37	chr4	190905501	190905501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagatccacgagcacagcGcgggacacgtacctgccacc	10	17	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:190905501G>A	uc011clg.1	-	3	186	c.183C>T	c.(181-183)CGC>CGT	p.R61R		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	62					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		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;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		CGAGCACAGCGCGGGACACGT	0.701													A	190905501	G	A	190905501	2	1	257	1	0	0	0	0	0	0	0	1	16756	1074	38	1		1	TUBB4Q	4	190905501	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4360733	190905501	248775	465	127397											
SLC6A18	348932	broad.mit.edu	37	chr5	1242892	1242892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggacgactacccagccGtcctcatgcacctgaacgcc	9	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:1242892G>A	uc003jby.1	+	8	1168	c.1045G>A	c.(1045-1047)GTC>ATC	p.V349I		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	349	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	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)			CTACCCAGCCGTCCTCATGCA	0.597													A	1242892	G	A	1242892	3	1	257	1	0	0	0	0	1	0	0	0	14681	1145	40	1	1075	1	SLC6A18	5	1242892	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08		1242892	179672368	466	127398											
KIAA0947	23379	broad.mit.edu	37	chr5	5461196	5461196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtatcacagtttctggCcattttcacagactatctag	7	11	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:5461196C>T	uc003jdm.3	+	13	1971	c.1749C>T	c.(1747-1749)GGC>GGT	p.G583G		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	583										ovary(1)|central_nervous_system(1)	2						CAGTTTCTGGCCATTTTCACA	0.398													T	5461196	C	T	5461196	2	4	257	1	0	0	0	0	0	0	0	1	8202	726	26	2		2	KIAA0947	5	5461196	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4218304	5461196	175454064	467	127399											
SEMA5A	9037	broad.mit.edu	37	chr5	9136666	9136666	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgtcatgctcaggctctcctCcaggcttgtgcatttcttca	8	14	5	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:9136666C>G	uc003jek.2	-	13	2261	c.1549G>C	c.(1549-1551)GAG>CAG	p.E517Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	517	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AGGCTCTCCTCCAGGCTTGTG	0.552													G	9136666	C	G	9136666	3	3	257	1	0	0	0	0	1	0	0	0	14037	864	30	5	1719	5	SEMA5A	5	9136666	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3675470	9136666	171778594	468	127400											
DNAH5	1767	broad.mit.edu	37	chr5	13781014	13781014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctctgctttcctgatcCgcccaccccgaccaggaggg	11	17	1	1	rs147443285		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:13781014C>T	uc003jfd.2	-	53	8917	c.8875G>A	c.(8875-8877)GGA>AGA	p.G2959R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2959	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTTCCTGATCCGCCCACCCCG	0.458									Kartagener_syndrome				T	13781014	C	T	13781014	3	4	257	1	0	0	0	0	1	0	0	0	4604	661	23	1	5107	1	DNAH5	5	13781014	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4644348	13781014	167134246	469	127401											
FBXL7	23194	broad.mit.edu	37	chr5	15928421	15928421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccaggacacccccaacGtgtgtctcatgctggaaacc	9	15	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:15928421G>A	uc003jfn.1	+	3	1031	c.550G>A	c.(550-552)GTG>ATG	p.V184M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	184	LRR 1.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CACCCCCAACGTGTGTCTCAT	0.647													A	15928421	G	A	15928421	3	1	257	1	0	0	0	0	1	0	0	0	5724	1145	40	1	560	1	FBXL7	5	15928421	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2147407	15928421	164986839	470	127402											
RNASEN	29102	broad.mit.edu	37	chr5	31401627	31401627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaactcttgtctgtacttcCgttcgatgaaccgcttctga	7	11	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:31401627C>T	uc003jhg.2	-	35	4396	c.4037G>A	c.(4036-4038)CGG>CAG	p.R1346Q	RNASEN_uc003jhh.2_Missense_Mutation_p.R1309Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1346	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TCTGTACTTCCGTTCGATGAA	0.368													T	31401627	C	T	31401627	3	4	257	1	0	0	0	0	1	0	0	0	13417	652	23	1	91	1	RNASEN	5	31401627	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	15473206	31401627	149513633	471	127403											
PDZD2	23037	broad.mit.edu	37	chr5	32058054	32058054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccagcctcacaccctgctCgacacccacacacatgagca	5	21	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:32058054C>T	uc003jhl.2	+	12	2433	c.2045C>T	c.(2044-2046)TCG>TTG	p.S682L	PDZD2_uc003jhm.2_Missense_Mutation_p.S682L|PDZD2_uc011cnx.1_Missense_Mutation_p.S508L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	682					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ACACCCTGCTCGACACCCACA	0.547											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	32058054	C	T	32058054	3	4	257	1	0	0	0	0	1	0	0	0	11701	893	31	1	2087	1	PDZD2	5	32058054	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	656427	32058054	148857206	472	127404											
ZFR	51663	broad.mit.edu	37	chr5	32355893	32355893	+	Frame_Shift_Del	DEL	T	T	-													ttatcataatcttttttgtcTtttttcccctcagcttcaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:32355892_32355892CT>C	uc003jhr.1	-	19	3279	c.3199_3199AG>G	c.(3199-3201)gacfs	p.D1067fs	ZFR_uc010ium.1_Frame_Shift_Del_p.D198fs|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	1067					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)		TCTTTTTTGTCTTTTTTCCCC	0.343													-	32355893	T	-	32355893	7	5	257	1	0	1	0	1	0	0	0	0	17656	1606	56	0	30	0	ZFR	5	32355893	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	297839	32355893	148559367	473	127405											
ADAMTS12	81792	broad.mit.edu	37	chr5	33614441	33614441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctttctggattgtgTactcatacttgatgccaggg	11	9	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:33614441T>C	uc003jia.1	-	16	2592	c.2429A>G	c.(2428-2430)TAC>TGC	p.Y810C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Y725C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	810	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CTGGATTGTGTACTCATACTT	0.478										HNSCC(64;0.19)			C	33614441	T	C	33614441	3	2	257	1	0	0	0	0	1	0	0	0	257	1638	57	3	2391	3	ADAMTS12	5	33614441	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1258548	33614441	147300819	474	127406											
RXFP3	51289	broad.mit.edu	37	chr5	33936796	33936796	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaaaactggggtaaaccGtgttatcttaggtcttgtcc	9	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:33936796G>A	uc003jic.1	+	1	308	c.-49G>A	c.(-51--47)CCGTG>CCATG			NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3							integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GGGGTAAACCGTGTTATCTTA	0.557													A	33936796	G	A	33936796	1	1	257	1	0	0	0	0	0	0	0	0	13761	1160	40	1		1	RXFP3	5	33936796	Translation_Start_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08	322355	33936796	146978464	475	127407											
NIPBL	25836	broad.mit.edu	37	chr5	36962233	36962233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgggttttagccggtttgTgccaccacagacaagctctg	11	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:36962233T>C	uc003jkl.3	+	6	966	c.467T>C	c.(466-468)GTG>GCG	p.V156A	NIPBL_uc003jkk.3_Missense_Mutation_p.V156A|NIPBL_uc003jkm.1_Missense_Mutation_p.V35A	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	156					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			AGCCGGTTTGTGCCACCACAG	0.428													C	36962233	T	C	36962233	3	2	257	1	0	0	0	0	1	0	0	0	10428	1696	59	3	485	3	NIPBL	5	36962233	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	3025437	36962233	143953027	476	127408											
LIFR	3977	broad.mit.edu	37	chr5	38482286	38482286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacattatttggggtacaaGgattcatttccaatgtttta	7	6	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:38482286G>T	uc010ive.1	-	20	3037	c.2705C>A	c.(2704-2706)CCT>CAT	p.P902H	LIFR_uc003jli.2_Missense_Mutation_p.P902H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	902	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGGGGTACAAGGATTCATTTC	0.363			T	PLAG1	salivary adenoma								T	38482286	G	T	38482286	3	4	257	1	0	0	0	0	1	0	0	0	8780	1000	35	5	592	5	LIFR	5	38482286	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1520053	38482286	142432974	477	127409											
OSMR	9180	broad.mit.edu	37	chr5	38876360	38876360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagtttccaccaattctaCgcgtcagagtttgcacttac	6	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:38876360C>T	uc003jln.1	+	3	498	c.131C>T	c.(130-132)ACG>ATG	p.T44M	OSMR_uc003jlm.1_Missense_Mutation_p.T44M	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	44	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					ACCAATTCTACGCGTCAGAGT	0.368													T	38876360	C	T	38876360	3	4	257	1	0	0	0	0	1	0	0	0	11292	536	19	1	137	1	OSMR	5	38876360	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	394074	38876360	142038900	478	127410											
FYB	2533	broad.mit.edu	37	chr5	39202444	39202444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtcttcatgggagttctCggtacttaggggcggcttct	13	9	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:39202444C>T	uc003jls.2	-	1	686	c.619G>A	c.(619-621)GAG>AAG	p.E207K	FYB_uc003jlt.2_Missense_Mutation_p.E207K|FYB_uc003jlu.2_Missense_Mutation_p.E207K|FYB_uc011cpl.1_Missense_Mutation_p.E217K	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	207					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGGAGTTCTCGGTACTTAGG	0.527													T	39202444	C	T	39202444	3	4	257	1	0	0	0	0	1	0	0	0	6124	893	31	1	1942	1	FYB	5	39202444	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	326084	39202444	141712816	479	127411											
FGF10	2255	broad.mit.edu	37	chr5	44388464	44388464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttgttacttactgtaCgggcagttctccttcttggt	9	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:44388464C>T	uc003jog.1	-	1	321	c.321G>A	c.(319-321)CCG>CCA	p.P107P		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	107					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					ACTTACTGTACGGGCAGTTCT	0.488													T	44388464	C	T	44388464	2	4	257	1	0	0	0	0	0	0	0	1	5839	523	19	1		1	FGF10	5	44388464	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5186020	44388464	136526796	480	127412											
HCN1	348980	broad.mit.edu	37	chr5	45262402	45262402	+	Frame_Shift_Del	DEL	T	T	-													gcgtgctcttgtgcacttcaTttttcggcgtggagctgcca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:45262401_45262401AT>A	uc003jok.3	-	7	2320	c.2295_2295AT>T	c.(2293-2295)aatfs	p.N765fs		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	765						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						TGTGCACTTCATTTTTCGGCG	0.652													-	45262402	T	-	45262402	7	5	257	1	0	1	0	1	0	0	0	0	6996	1493	52	0	382	0	HCN1	5	45262402	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	873938	45262402	135652858	481	127413											
HCN1	348980	broad.mit.edu	37	chr5	45262443	45262443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtctgtggctgcggggaCggctgctgtggctgagtctg	20	8	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:45262443C>T	uc003jok.2	-	8	2278	c.2253G>A	c.(2251-2253)CCG>CCA	p.P751P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	751	Gln-rich.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GCTGCGGGGACGgctgctgtg	0.428													T	45262443	C	T	45262443	2	4	257	1	0	0	0	0	0	0	0	1	6996	523	19	1		1	HCN1	5	45262443	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	41	45262443	135652817	482	127414											
HCN1	348980	broad.mit.edu	37	chr5	45462087	45462087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccactgcactggcgAgatcatatgtcatgtggaat	9	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:45462087A>C	uc003jok.2	-	3	897	c.872T>G	c.(871-873)CTC>CGC	p.L291R		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	291	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TGCACTGGCGAGATCATATGT	0.383													C	45462087	A	C	45462087	3	2	257	1	0	0	0	0	1	0	0	0	6996	304	11	5	1824	5	HCN1	5	45462087	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	199644	45462087	135453173	483	127415											
GZMK	3003	broad.mit.edu	37	chr5	54320634	54320634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcagcccactgccaatatCggtgagtcctccacactttt	7	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:54320634C>T	uc003jpl.1	+	2	255	c.211C>T	c.(211-213)CGG>TGG	p.R71W		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	71	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGCCAATATCGGTGAGTCCT	0.458													T	54320634	C	T	54320634	3	4	257	1	0	0	0	0	1	0	0	0	6918	898	31	1	217	1	GZMK	5	54320634	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8858547	54320634	126594626	484	127416											
TRIM23	373	broad.mit.edu	37	chr5	64905171	64905171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagccaaatcaatttttcacGaacatgagcatcaacaacac	5	11	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:64905171G>A	uc003jty.2	-	6	1029	c.943C>T	c.(943-945)CGT>TGT	p.R315C	TRIM23_uc003jtw.2_Missense_Mutation_p.R315C|TRIM23_uc003jtx.2_Missense_Mutation_p.R315C	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	315					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			ovary(3)|lung(1)	4		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)		AATTTTTCACGAACATGAGCA	0.413													A	64905171	G	A	64905171	3	1	257	1	0	0	0	0	1	0	0	0	16494	1058	37	1	872	1	TRIM23	5	64905171	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	10584537	64905171	116010089	485	127417											
MAST4	375449	broad.mit.edu	37	chr5	66462647	66462647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcggggccagccaccGggacagggctctctcggtga	17	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:66462647G>A	uc003jut.1	+	28	7141	c.7073G>A	c.(7072-7074)CGG>CAG	p.R2358Q	MAST4_uc003juw.2_Missense_Mutation_p.R2286Q|MAST4_uc003jux.2_Missense_Mutation_p.R111Q	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2550						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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)		GCCAGCCACCGGGACAGGGCT	0.647													A	66462647	G	A	66462647	3	1	257	1	0	0	0	0	1	0	0	0	9327	1116	39	1	7884	1	MAST4	5	66462647	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1557476	66462647	114452613	486	127418											
BDP1	55814	broad.mit.edu	37	chr5	70798603	70798603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaatgaaaatgaatcCtgtgctgatagagatgtaag	12	3	0	6			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:70798603C>T	uc003kbp.1	+	15	2489	c.2226C>T	c.(2224-2226)TCC>TCT	p.S742S	BDP1_uc003kbn.1_Silent_p.S742S|BDP1_uc003kbo.2_Silent_p.S742S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	742					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		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)		AAAATGAATCCTGTGCTGATA	0.368													T	70798603	C	T	70798603	2	4	257	1	0	0	0	0	0	0	0	1	1395	668	24	4		4	BDP1	5	70798603	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4335956	70798603	110116657	487	127419											
CARTPT	9607	broad.mit.edu	37	chr5	71015134	71015134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacgatggagagctcccGcgtgaggctgctgcccctcc	13	15	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:71015134G>A	uc003kbv.1	+	1	141	c.14G>A	c.(13-15)CGC>CAC	p.R5H		NM_004291	NP_004282	Q16568	CART_HUMAN	cocaine- and amphetamine-regulated transcript	5					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				ovary(1)	1		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GAGAGCTCCCGCGTGAGGCTG	0.672													A	71015134	G	A	71015134	3	1	257	1	0	0	0	0	1	0	0	0	2659	1087	38	1	16	1	CARTPT	5	71015134	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	216531	71015134	109900126	488	127420											
PTCD2	79810	broad.mit.edu	37	chr5	71648518	71648518	+	Frame_Shift_Del	DEL	A	A	-													gaaaacctgataaagactctAaaaaatgctgcagaaggaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:71648517_71648517TA>T	uc003kcb.3	+	8	888	c.878_878TA>T	c.(877-879)ctafs	p.L293fs	PTCD2_uc011csf.1_Frame_Shift_Del_p.L103fs|PTCD2_uc003kcc.3_Frame_Shift_Del_p.L141fs|PTCD2_uc011csg.2_Frame_Shift_Del_p.L121fs|PTCD2_uc011csh.2_Frame_Shift_Del_p.L184fs|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	293										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATAAAGACTCTAAAAAATGCT	0.343													-	71648518	A	-	71648518	7	5	257	1	0	1	0	1	0	0	0	0	12728	349	13	0	913	0	PTCD2	5	71648518	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	633384	71648518	109266742	489	127421											
SV2C	22987	broad.mit.edu	37	chr5	75428079	75428079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatggcagacggtgtagaGgtgtttgtcgttggcttcgt	15	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:75428079G>T	uc003kei.1	+	2	638	c.504G>T	c.(502-504)GAG>GAT	p.E168D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	168	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACGGTGTAGAGGTGTTTGTCG	0.527													T	75428079	G	T	75428079	3	4	257	1	0	0	0	0	1	0	0	0	15416	991	35	5	506	5	SV2C	5	75428079	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3779561	75428079	105487181	490	127422											
PDE8B	8622	broad.mit.edu	37	chr5	76707503	76707503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcctttattccaggaCggcttgagaagactgtcagg	11	10	2	2	rs148282450		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:76707503C>T	uc003kfa.2	+	15	1578	c.1533C>T	c.(1531-1533)GAC>GAT	p.D511D	PDE8B_uc003kfb.2_Silent_p.D491D|PDE8B_uc003kfc.2_Silent_p.D456D|PDE8B_uc003kfd.2_Silent_p.D464D|PDE8B_uc003kfe.2_Silent_p.D414D	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	511					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		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)		TATTCCAGGACGGCTTGAGAA	0.358													T	76707503	C	T	76707503	2	4	257	1	0	0	0	0	0	0	0	1	11654	535	19	1		1	PDE8B	5	76707503	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1279424	76707503	104207757	491	127423											
THBS4	7060	broad.mit.edu	37	chr5	79368169	79368169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgggacaaggatggtgatGgtgtgggggatgcctgtgac	19	5	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79368169G>T	uc003kgh.2	+	15	2112	c.1789G>T	c.(1789-1791)GGT>TGT	p.G597C	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	597	TSP type-3 5.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGATGGTGATGGTGTGGGGGA	0.473													T	79368169	G	T	79368169	3	4	257	1	0	0	0	0	1	0	0	0	15853	1348	47	5	1843	5	THBS4	5	79368169	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2660666	79368169	101547091	492	127424											
SERINC5	256987	broad.mit.edu	37	chr5	79446741	79446741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtatcgcccctgcagagcGtcagaactcgatcttgttgt	11	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79446741G>A	uc003kgj.2	-	9	1146	c.1017C>T	c.(1015-1017)GAC>GAT	p.D339D	SERINC5_uc003kgk.2_Silent_p.D337D|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Silent_p.D339D|SERINC5_uc011ctj.1_Silent_p.D339D	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN	developmentally regulated protein TPO1	339	Extracellular (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		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)		CCTGCAGAGCGTCAGAACTCG	0.453													A	79446741	G	A	79446741	2	1	257	1	0	0	0	0	0	0	0	1	14083	1136	40	1		1	SERINC5	5	79446741	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	78572	79446741	101468519	493	127425											
SERINC5	256987	broad.mit.edu	37	chr5	79498851	79498851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcagagagagcagcctgCagacccacagcagcaggcca	12	14	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79498851C>T	uc003kgj.2	-	2	178	c.49G>A	c.(49-51)GCA>ACA	p.A17T	SERINC5_uc003kgk.2_Missense_Mutation_p.A17T|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.A17T|SERINC5_uc011ctj.1_Missense_Mutation_p.A17T	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN	developmentally regulated protein TPO1	17	Extracellular (Potential).|Cys-rich.				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		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)		GAGCAGCCTGCAGACCCACAG	0.483													T	79498851	C	T	79498851	3	4	257	1	0	0	0	0	1	0	0	0	14083	710	25	2	1418	2	SERINC5	5	79498851	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	52110	79498851	101416409	494	127426											
MSH3	4437	broad.mit.edu	37	chr5	79966006	79966006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaatcagctaacaaaCggtccaaaagcatctatacg	5	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79966006C>T	uc003kgz.2	+	4	923	c.670C>T	c.(670-672)CGG>TGG	p.R224W		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	224	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			lung(2)|ovary(1)|breast(1)	4		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)		AGCTAACAAACGGTCCAAAAG	0.378								MMR					T	79966006	C	T	79966006	3	4	257	1	0	0	0	0	1	0	0	0	9871	527	19	1	684	1	MSH3	5	79966006	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	467155	79966006	100949254	495	127427											
VCAN	1462	broad.mit.edu	37	chr5	82833368	82833368	+	Frame_Shift_Del	DEL	A	A	-													aatttgaaagtggaacagccAaaaaaggggcagaatcagtc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:82833367_82833367CA>C	uc003kii.3	+	7	4901	c.4545_4545CA>C	c.(4543-4545)gccfs	p.A1515fs	VCAN_uc003kij.3_Frame_Shift_Del_p.A528fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Del_p.A179fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1515	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.T1514T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTGGAACAGCCAAAAAAGGGG	0.448													-	82833368	A	-	82833368	7	5	257	1	0	1	0	1	0	0	0	0	17135	131	5	0	4572	0	VCAN	5	82833368	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	2867362	82833368	98081892	496	127428											
VCAN	1462	broad.mit.edu	37	chr5	82836308	82836308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttcattcagagcagAacaaaagctcccctgatcca	6	14	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:82836308A>G	uc003kii.3	+	8	7842	c.7486A>G	c.(7486-7488)AAC>GAC	p.N2496D	VCAN_uc003kij.3_Missense_Mutation_p.N1509D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.N1160D	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2496	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		TTCAGAGCAGAACAAAAGCTC	0.483													G	82836308	A	G	82836308	3	3	257	1	0	0	0	0	1	0	0	0	17135	246	9	3	7512	3	VCAN	5	82836308	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2940	82836308	98078952	497	127429											
GPR98	84059	broad.mit.edu	37	chr5	90086922	90086922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtttatgcaaatgatgAcccacatggagtatttgccc	8	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:90086922A>G	uc003kju.2	+	70	14372	c.14276A>G	c.(14275-14277)GAC>GGC	p.D4759G	GPR98_uc003kjt.2_Missense_Mutation_p.D2465G|GPR98_uc003kjw.2_Missense_Mutation_p.D420G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4759	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		GCAAATGATGACCCACATGGA	0.438													G	90086922	A	G	90086922	3	3	257	1	0	0	0	0	1	0	0	0	6721	275	10	3	14554	3	GPR98	5	90086922	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	7250614	90086922	90828338	498	127430											
NR2F1	7025	broad.mit.edu	37	chr5	92923984	92923984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgctgcacgtggcgccGttgctggccgccgccggcct	15	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:92923984G>A	uc003kkj.2	+	2	2512	c.825G>A	c.(823-825)CCG>CCA	p.P275P		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	275					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			urinary_tract(1)|ovary(1)|lung(1)	3		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)		ACGTGGCGCCGTTGCTGGCCG	0.662													A	92923984	G	A	92923984	2	1	257	1	0	0	0	0	0	0	0	1	10627	1132	40	1		1	NR2F1	5	92923984	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2837062	92923984	87991276	499	127431											
ELL2	22936	broad.mit.edu	37	chr5	95233979	95233979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggagttatttagcttgGcaatttcctcttctctctta	7	9	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:95233979G>A	uc003klr.3	-	8	1840	c.1490C>T	c.(1489-1491)GCC>GTC	p.A497V		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	497					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		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)		ATTTAGCTTGGCAATTTCCTC	0.348													A	95233979	G	A	95233979	3	1	257	1	0	0	0	0	1	0	0	0	5063	1203	42	2	452	2	ELL2	5	95233979	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2309995	95233979	85681281	500	127432											
ERAP1	51752	broad.mit.edu	37	chr5	96116880	96116880	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtttttattttatctcCcttaaagctttcatctagta	4	8	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:96116880C>A	uc003kmm.2	-	17	2817	c.2470G>T	c.(2470-2472)GGA>TGA	p.G824*	ERAP1_uc003kml.2_Nonsense_Mutation_p.G824*|ERAP1_uc010jbm.1_Nonsense_Mutation_p.G636*|ERAP1_uc003kmn.2_Nonsense_Mutation_p.G824*	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	824	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2		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)		ATTTTATCTCCCTTAAAGCTT	0.368													A	96116880	C	A	96116880	4	1	257	1	0	0	0	0	0	1	0	0	5203	632	22	5	400	5	ERAP1	5	96116880	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	882901	96116880	84798380	501	127433											
LNPEP	4012	broad.mit.edu	37	chr5	96358076	96358076	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagggcactccatctatgCgagagcttcggtcagccctg	12	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:96358076C>T	uc003kmv.1	+	14	2963	c.2449C>T	c.(2449-2451)CGA>TGA	p.R817*	LNPEP_uc003kmw.1_Nonsense_Mutation_p.R803*	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	817	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		TCCATCTATGCGAGAGCTTCG	0.438													T	96358076	C	T	96358076	4	4	257	1	0	0	0	0	0	1	0	0	8864	760	27	1	2503	1	LNPEP	5	96358076	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	241196	96358076	84557184	502	127434											
TSSK1B	83942	broad.mit.edu	37	chr5	112770134	112770134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcacacttgaggtcccGgtggacgacgtccaggtcgt	14	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:112770134G>A	uc003kqm.2	-	1	595	c.403C>T	c.(403-405)CGG>TGG	p.R135W	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	135	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		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)		TTGAGGTCCCGGTGGACGACG	0.562													A	112770134	G	A	112770134	3	1	257	1	0	0	0	0	1	0	0	0	16665	1115	39	1	704	1	TSSK1B	5	112770134	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	16412058	112770134	68145126	503	127435											
KCNN2	3781	broad.mit.edu	37	chr5	113698896	113698896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgactacgcgctcatcttcGgcatgttcggcatcgtggtc	12	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:113698896G>A	uc003kqo.2	+	1	881	c.424G>A	c.(424-426)GGC>AGC	p.G142S		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	142	Helical; Name=Segment S1; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		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)		GCTCATCTTCGGCATGTTCGG	0.607													A	113698896	G	A	113698896	3	1	257	1	0	0	0	0	1	0	0	0	8079	1116	39	1	426	1	KCNN2	5	113698896	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	928762	113698896	67216364	504	127436											
FEM1C	56929	broad.mit.edu	37	chr5	114878754	114878754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtatgcccatgtcggTttgacacttccaaatcagct	8	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:114878754T>C	uc003krb.1	-	2	999	c.437A>G	c.(436-438)AAC>AGC	p.N146S		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	146						cytoplasm				breast(2)|ovary(1)	3		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)		CCCATGTCGGTTTGACACTTC	0.393													C	114878754	T	C	114878754	3	2	257	1	0	0	0	0	1	0	0	0	5811	1725	60	3	1424	3	FEM1C	5	114878754	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1179858	114878754	66036506	505	127437											
AQPEP	206338	broad.mit.edu	37	chr5	115336319	115336319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacattttcctactcaaaCgctgagcaagatgatctatg	7	9	2	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:115336319C>T	uc003kro.2	+	9	1775	c.1611C>T	c.(1609-1611)AAC>AAT	p.N537N	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	537	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CCTACTCAAACGCTGAGCAAG	0.348													T	115336319	C	T	115336319	2	4	257	1	0	0	0	0	0	0	0	1	834	535	19	1		1	AQPEP	5	115336319	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	457565	115336319	65578941	506	127438											
CEP120	153241	broad.mit.edu	37	chr5	122713213	122713213	+	Frame_Shift_Del	DEL	T	T	-													gacgttctgattgcagttccTttttttctctttgaagctta							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:122713212_122713212CT>C	uc003ktk.3	-	16	2330	c.2214_2214AG>G	c.(2212-2214)aagfs	p.K738fs	CEP120_uc010jcz.2_Frame_Shift_Del_p.K712fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.K547fs	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	738						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						ATTGCAGTTCCTTTTTTTCTC	0.388													-	122713213	T	-	122713213	7	5	257	1	0	1	0	1	0	0	0	0	3246	1609	56	0	767	0	CEP120	5	122713213	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	7376894	122713213	58202047	507	127439											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926182	122926182	+	Frame_Shift_Del	DEL	T	T	-													ctatgactacttaagaaagcTttttactgacttgtttgatc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:122926181_122926181CT>C	uc003ktm.3	+	8	1638	c.919_919CT>C	c.(919-921)cttfs	p.L307fs	CSNK1G3_uc003ktl.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc003ktn.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc003kto.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc011cwr.2_Frame_Shift_Del_p.L232fs|CSNK1G3_uc011cws.2_Frame_Shift_Del_p.L195fs|CSNK1G3_uc010jda.3_Frame_Shift_Del_p.L308fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	307	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CTTAAGAAAGCTTTTTACTGA	0.264													-	122926182	T	-	122926182	7	5	257	1	0	1	0	1	0	0	0	0	3956	1609	56	0	950	0	CSNK1G3	5	122926182	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	212969	122926182	57989078	508	127440											
ZNF608	57507	broad.mit.edu	37	chr5	123984684	123984684	+	Frame_Shift_Del	DEL	C	C	-													ccgcctccctttcccattggCcccccctctgttcttattct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:123984683_123984683GC>G	uc003ktq.1	-	3	1577	c.1394_1394GC>C	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						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)		TTTCCCATTGGCCCCCCCTCT	0.627													-	123984684	C	-	123984684	7	5	257	1	0	1	0	1	0	0	0	0	18031	739	26	0	3169	0	ZNF608	5	123984684	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	1058502	123984684	56930576	509	127441											
PHAX	51808	broad.mit.edu	37	chr5	125939415	125939415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctttggaaacgcaaaCgacagaaatgttttaaccct	8	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:125939415C>T	uc003kua.1	+	2	272	c.250C>T	c.(250-252)CGA>TGA	p.R84*		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	84	Necessary for interaction with CBP80 (By similarity).|Nuclear localization signal (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0						GAAACGCAAACGACAGAAATG	0.418													T	125939415	C	T	125939415	4	4	257	1	0	0	0	0	0	1	0	0	11813	528	19	1	256	1	PHAX	5	125939415	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1954731	125939415	54975845	510	127442											
PHAX	51808	broad.mit.edu	37	chr5	125939712	125939713	+	Frame_Shift_Ins	INS	-	-	A													tgaatatatgcatggtggcaINSaaaaaatgggatcaaaggaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:125939711_125939712C>CA	uc003kua.2	+	1	594_595	c.546_547C>CA	c.(544-549)ggcaaafs	p.G182fs		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA.	182	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						TGCATGGTGGCAAAAAAATGGG	0.401													A	125939713	-	A	125939712	7	5	257	1	0	1	1	0	0	0	0	0	11813	131	5	0	553	0	PHAX	5	125939712	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	297	125939712	54975548	511	127443											
FBN2	2201	broad.mit.edu	37	chr5	127624846	127624846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtactccagtgtagtcaaGgttgtagcccattggacatt	11	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:127624846G>A	uc003kuu.2	-	52	7049	c.6610C>T	c.(6610-6612)CTT>TTT	p.L2204F		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2204	EGF-like 36; 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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GTGTAGTCAAGGTTGTAGCCC	0.423													A	127624846	G	A	127624846	3	1	257	1	0	0	0	0	1	0	0	0	5703	1000	35	4	2184	4	FBN2	5	127624846	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1685134	127624846	53290414	512	127444											
SLC22A5	6584	broad.mit.edu	37	chr5	131721153	131721153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggatgctgctggtggcGctgacgatgccgggggtgct	20	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:131721153G>A	uc003kww.3	+	4	1050	c.786G>A	c.(784-786)GCG>GCA	p.A262A	SLC22A5_uc003kwx.3_Silent_p.A286A|SLC22A5_uc010jdr.1_5'UTR	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	262	Helical; Name=6; (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGCTGGTGGCGCTGACGATGC	0.537											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	131721153	G	A	131721153	2	1	257	1	0	0	0	0	0	0	0	1	14457	1074	38	1		1	SLC22A5	5	131721153	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4096307	131721153	49194107	513	127445											
AFF4	27125	broad.mit.edu	37	chr5	132223801	132223801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacataccaatgcatctgcAttgtgctttagcttttttgc	6	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:132223801A>G	uc003kyd.2	-	15	3192	c.2784T>C	c.(2782-2784)AAT>AAC	p.N928N	AFF4_uc011cxk.1_Silent_p.N606N	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	928					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCATCTGCATTGTGCTTTA	0.274													G	132223801	A	G	132223801	2	3	257	1	0	0	0	0	0	0	0	1	359	214	8	3		3	AFF4	5	132223801	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	502648	132223801	48691459	514	127446											
HSPA4	3308	broad.mit.edu	37	chr5	132439995	132439995	+	Frame_Shift_Del	DEL	A	A	-													ggaacctccaaaagaggaacAaaaaaatgcagagcagaatg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:132439994_132439994CA>C	uc003kyj.3	+	18	2670	c.2389_2389CA>C	c.(2389-2391)caafs	p.Q797fs		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	797					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)			AAAAGAGGAACAAAAAAATGC	0.493													-	132439995	A	-	132439995	7	5	257	1	0	1	0	1	0	0	0	0	7412	130	5	0	2464	0	HSPA4	5	132439995	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	216194	132439995	48475265	515	127447											
SEC24A	10802	broad.mit.edu	37	chr5	134022491	134022491	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcagttacgaccaccTcagcctccagtgtatctctt	5	14	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:134022491T>C	uc003kzs.2	+	10	1791	c.1503T>C	c.(1501-1503)CCT>CCC	p.P501P	SEC24A_uc011cxu.1_Silent_p.P265P	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	501					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				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACGACCACCTCAGCCTCCAG	0.348													C	134022491	T	C	134022491	2	2	257	1	0	0	0	0	0	0	0	1	13994	1538	54	3		3	SEC24A	5	134022491	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1582496	134022491	46892769	516	127448											
CATSPER3	347732	broad.mit.edu	37	chr5	134305723	134305723	+	Frame_Shift_Del	DEL	T	T	-													gcactgtcacatcgaatgcgTtttttatggccttgtggacc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:134305722_134305722GT>G	uc003lag.3	+	1	278	c.192_192GT>G	c.(190-192)gcgfs	p.A64fs		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	64					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)			CATCGAATGCGTTTTTTATGG	0.388													-	134305723	T	-	134305723	7	5	257	1	0	1	0	1	0	0	0	0	2689	1725	60	0	199	0	CATSPER3	5	134305723	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	283232	134305723	46609537	517	127449											
H2AFY	9555	broad.mit.edu	37	chr5	134724631	134724631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcaggtattccaggacGgcggccatgtacacgggtgc	14	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:134724631G>A	uc003lam.1	-	2	363	c.153C>T	c.(151-153)GCC>GCT	p.A51A	H2AFY_uc003lao.1_Silent_p.A51A|H2AFY_uc003lan.1_Silent_p.A51A|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Silent_p.A51A|H2AFY_uc003las.1_Silent_p.A51A|H2AFY_uc003lat.1_Silent_p.A51A	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	51	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTCCAGGACGGCGGCCATGT	0.532													A	134724631	G	A	134724631	2	1	257	1	0	0	0	0	0	0	0	1	6929	1103	39	1		1	H2AFY	5	134724631	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	418908	134724631	46190629	518	127450											
CTNNA1	1495	broad.mit.edu	37	chr5	138260955	138260955	+	Frame_Shift_Del	DEL	T	T	-													ttctccacagtcatgccacgTtttactgagcaagtagaagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:138260954_138260954GT>G	uc003ldh.3	+	12	1852	c.1757_1757GT>G	c.(1756-1758)cgtfs	p.R586fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.R483fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.R463fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.R284fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.R586fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.R216fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	586					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)			GTCATGCCACGTTTTACTGAG	0.542													-	138260955	T	-	138260955	7	5	257	1	0	1	0	1	0	0	0	0	4012	1712	60	0	1804	0	CTNNA1	5	138260955	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	3536324	138260955	42654305	519	127451											
CTNNA1	1495	broad.mit.edu	37	chr5	138269587	138269587	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcgcctctaccaaatacCaaaagtcacagggtatggct	8	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:138269587C>T	uc003ldh.2	+	18	2625	c.2530C>T	c.(2530-2532)CAA>TAA	p.Q844*	CTNNA1_uc011cyx.1_Nonsense_Mutation_p.Q741*|CTNNA1_uc011cyy.1_Nonsense_Mutation_p.Q721*|CTNNA1_uc003ldi.2_Nonsense_Mutation_p.Q542*|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Nonsense_Mutation_p.Q474*	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	844					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TACCAAATACCAAAAGTCACA	0.507													T	138269587	C	T	138269587	4	4	257	1	0	0	0	0	0	1	0	0	4012	595	21	4	2596	4	CTNNA1	5	138269587	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8632	138269587	42645673	520	127452											
PSD2	84249	broad.mit.edu	37	chr5	139192937	139192937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcgggatggcttcagcGccacgtttgagaagattctg	14	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:139192937G>A	uc003leu.1	+	3	620	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	139					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTTCAGCGCCACGTTTGA	0.617													A	139192937	G	A	139192937	3	1	257	1	0	0	0	0	1	0	0	0	12647	1087	38	1	421	1	PSD2	5	139192937	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	923350	139192937	41722323	521	127453											
CD14	929	broad.mit.edu	37	chr5	140011861	140011861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgcacacgcctgtgggCgtctccattcctgtgttgcg	14	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140011861C>T	uc003lgi.1	-	2	1062	c.708G>A	c.(706-708)ACG>ACA	p.T236T	CD14_uc003lgj.1_Silent_p.T236T	NM_000591	NP_000582	P08571	CD14_HUMAN	CD14 antigen precursor	236	LRR 7.				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGTGGGCGTCTCCATTC	0.652													T	140011861	C	T	140011861	2	4	257	1	0	0	0	0	0	0	0	1	2964	755	27	1		1	CD14	5	140011861	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	818924	140011861	40903399	522	127454											
PCDHA4	56144	broad.mit.edu	37	chr5	140188395	140188395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccgctcgcgatgccggCgtgccacctctgggcagcaa	14	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140188395C>T	uc003lhi.2	+	1	1724	c.1623C>T	c.(1621-1623)GGC>GGT	p.G541G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G541G|PCDHA4_uc011daa.1_Silent_p.G541G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	541	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGATGCCGGCGTGCCACCTC	0.657													T	140188395	C	T	140188395	2	4	257	1	0	0	0	0	0	0	0	1	11526	755	27	1		1	PCDHA4	5	140188395	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	176534	140188395	40726865	523	127455											
PCDHA5	56143	broad.mit.edu	37	chr5	140203028	140203028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	15	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140203028C>T	uc003lhl.2	+	1	1668	c.1668C>T	c.(1666-1668)GAC>GAT	p.D556D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.D556D|PCDHA5_uc003lhj.1_Silent_p.D556D	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	556	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.706													T	140203028	C	T	140203028	2	4	257	1	0	0	0	0	0	0	0	1	11527	535	19	1		1	PCDHA5	5	140203028	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	14633	140203028	40712232	524	127456											
PCDHA8	56140	broad.mit.edu	37	chr5	140222193	140222193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggtaaccgcgcgggaCgggggctcgccttcgctgtg	18	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140222193C>T	uc003lhs.2	+	1	1287	c.1287C>T	c.(1285-1287)GAC>GAT	p.D429D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.D429D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	429	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGGGACGGGGGCTCGC	0.637													T	140222193	C	T	140222193	2	4	257	1	0	0	0	0	0	0	0	1	11530	535	19	1		1	PCDHA8	5	140222193	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	19165	140222193	40693067	525	127457											
PCDHA9	9752	broad.mit.edu	37	chr5	140229559	140229559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccctggtgtcctactcGctggtggagcggcggttggg	17	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140229559G>A	uc003lhu.2	+	1	2203	c.1479G>A	c.(1477-1479)TCG>TCA	p.S493S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S493S	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	493	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTACTCGCTGGTGGAGC	0.667													A	140229559	G	A	140229559	2	1	257	1	0	0	0	0	0	0	0	1	11531	1074	38	1		1	PCDHA9	5	140229559	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7366	140229559	40685701	526	127458											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307102	140307102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttacagctcgggacggcGggctacctgcccgctcagga	14	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140307102G>A	uc003lih.2	+	1	801	c.625G>A	c.(625-627)GGG>AGG	p.G209R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.G209R	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	209	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGACGGCGGGCTACCTGC	0.602													A	140307102	G	A	140307102	3	1	257	1	0	0	0	0	1	0	0	0	11532	1116	39	1	627	1	PCDHAC1	5	140307102	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	77543	140307102	40608158	527	127459											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308685	140308685	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatggtttcaaatccttgCatgacatcagccaccataga	7	10	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140308685C>A	uc003lih.2	+	1	2384	c.2208C>A	c.(2206-2208)TGC>TGA	p.C736*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Nonsense_Mutation_p.C736*	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	736	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATCCTTGCATGACATCAG	0.478													A	140308685	C	A	140308685	4	1	257	1	0	0	0	0	0	1	0	0	11532	718	25	5	2210	5	PCDHAC1	5	140308685	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1583	140308685	40606575	528	127460											
PCDHB3	56132	broad.mit.edu	37	chr5	140480418	140480418	+	Frame_Shift_Del	DEL	G	G	-													ggtagaggaactggccgcgaGgggggcccaagttgtgtcca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140480417_140480417AG>A	uc003lio.3	+	0	184	c.184_184AG>A	c.(184-186)aggfs	p.R62fs	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A61T(1)		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)			ACTGGCCGCGAGGGGGGCCCA	0.502													-	140480418	G	-	140480418	7	5	257	1	0	1	0	1	0	0	0	0	11543	1000	35	0	187	0	PCDHB3	5	140480418	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	171733	140480418	40434842	529	127461											
PCDHB10	56126	broad.mit.edu	37	chr5	140573799	140573799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacgccaacgacaactcGcccttcgtgctgtacccgct	9	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140573799G>A	uc003lix.2	+	1	1848	c.1674G>A	c.(1672-1674)TCG>TCA	p.S558S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	558	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGACAACTCGCCCTTCGTGC	0.721													A	140573799	G	A	140573799	2	1	257	1	0	0	0	0	0	0	0	1	11535	1074	38	1		1	PCDHB10	5	140573799	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	93381	140573799	40341461	530	127462											
PCDHB12	56124	broad.mit.edu	37	chr5	140588576	140588576	+	Frame_Shift_Del	DEL	T	T	-													cgggctctgaaactgggaacTttttggtgatggaggaattg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140588575_140588575CT>C	uc003liz.3	+	0	285	c.96_96CT>C	c.(94-96)aacfs	p.N32fs	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	32					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)			AAACTGGGAACTTTTTGGTGA	0.537													-	140588576	T	-	140588576	7	5	257	1	0	1	0	1	0	0	0	0	11537	1609	56	0	99	0	PCDHB12	5	140588576	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	14777	140588576	40326684	531	127463											
PCDHB15	56121	broad.mit.edu	37	chr5	140625739	140625739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagctggtgctggacaCagaactggatcgcgaggagc	15	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140625739C>T	uc003lje.2	+	1	593	c.593C>T	c.(592-594)ACA>ATA	p.T198I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	198	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGGACACAGAACTGGAT	0.527													T	140625739	C	T	140625739	3	4	257	1	0	0	0	0	1	0	0	0	11540	478	17	4	595	4	PCDHB15	5	140625739	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	37163	140625739	40289521	532	127464											
PCDHGA6	56109	broad.mit.edu	37	chr5	140753888	140753888	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttttctctctgaatccgCgaaacggcagcttggtcacc	9	13	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140753888C>T	uc003ljy.1	+	1	238	c.238C>T	c.(238-240)CGA>TGA	p.R80*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.R80*	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	80	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATCCGCGAAACGGCAG	0.577													T	140753888	C	T	140753888	4	4	257	1	0	0	0	0	0	1	0	0	11558	760	27	1	240	1	PCDHGA6	5	140753888	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	128149	140753888	40161372	533	127465											
PCDHGA9	56107	broad.mit.edu	37	chr5	140782735	140782735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtctctagaggtaggacGcagcttttctctctgaaccc	9	12	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140782735G>A	uc003lkh.1	+	1	216	c.216G>A	c.(214-216)ACG>ACA	p.T72T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.T72T	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	72	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCT	0.622													A	140782735	G	A	140782735	2	1	257	1	0	0	0	0	0	0	0	1	11561	1074	38	1		1	PCDHGA9	5	140782735	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	28847	140782735	40132525	534	127466											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789448	140789448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccgcaatgacaacgcacCgcgggtgctgtacccagctc	11	15	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140789448C>T	uc003lkj.1	+	1	1679	c.1679C>T	c.(1678-1680)CCG>CTG	p.P560L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.P560L	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	560	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAACGCACCGCGGGTGCTG	0.662													T	140789448	C	T	140789448	3	4	257	1	0	0	0	0	1	0	0	0	11567	652	23	1	1681	1	PCDHGB6	5	140789448	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6713	140789448	40125812	535	127467											
PCDHGC5	56097	broad.mit.edu	37	chr5	140798891	140798891	+	Frame_Shift_Del	DEL	T	T	-													ggctcaacggccgtgtctccTactctctcattgccagcgac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140798890_140798890CT>C	uc003lkn.2	+	0	1631	c.1464_1464CT>C	c.(1462-1464)tccfs	p.S488fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Frame_Shift_Del_p.S488fs|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	490	Cadherin 5.				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)			GCCGTGTCTCCTACTCTCTCA	0.637													-	140798891	T	-	140798891	7	5	257	1	0	1	0	1	0	0	0	0	11571	1522	53	0		0	PCDHGC5	5	140798891	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	9443	140798891	40116369	536	127468											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856586	140856586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccttagaccttgtaacCgggatgctgacaatcaaggg	11	10	1	2	rs148675327		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140856586C>T	uc003lkv.1	+	1	1018	c.903C>T	c.(901-903)ACC>ACT	p.T301T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.T301T|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	301	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTGTAACCGGGATGCTGA	0.552													T	140856586	C	T	140856586	2	4	257	1	0	0	0	0	0	0	0	1	11569	639	23	1		1	PCDHGC3	5	140856586	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	57695	140856586	40058674	537	127469											
ARAP3	64411	broad.mit.edu	37	chr5	141059689	141059689	+	Frame_Shift_Del	DEL	C	C	-													ggctcctggacactcctggtCccccgagggctgggctcagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:141059688_141059688TC>T	uc003llm.3	-	1	444	c.366_366GA>A	c.(364-366)ggafs	p.G122fs	ARAP3_uc003lln.3_Frame_Shift_Del_p.G44fs|ARAP3_uc003llo.1_Frame_Shift_Del_p.G122fs	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	122	Pro-rich.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|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|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.G121V(1)		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						ACACTCCTGGTCCCCCGAGGG	0.647													-	141059689	C	-	141059689	7	5	257	1	0	1	0	1	0	0	0	0	840	855	30	0	4397	0	ARAP3	5	141059689	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	203103	141059689	39855571	538	127470											
PCDH12	51294	broad.mit.edu	37	chr5	141335577	141335577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtcaaaaggaatggccGggagctgtgagtggccagtg	18	6	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:141335577G>A	uc003llx.2	-	1	3051	c.1840C>T	c.(1840-1842)CGG>TGG	p.R614W		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	614	Cadherin 6.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAATGGCCGGGAGCTGTGA	0.592													A	141335577	G	A	141335577	3	1	257	1	0	0	0	0	1	0	0	0	11510	1115	39	1	1730	1	PCDH12	5	141335577	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	275888	141335577	39579683	539	127471											
SH3RF2	153769	broad.mit.edu	37	chr5	145439648	145439648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggggcagtgaggcctGgatccactccgcggccagct	15	14	0	1	rs112543445		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:145439648G>A	uc003lnt.2	+	9	2013	c.1775G>A	c.(1774-1776)CGG>CAG	p.R592Q	SH3RF2_uc011dbl.1_Nonsense_Mutation_p.W592*|SH3RF2_uc011dbm.1_Nonsense_Mutation_p.W77*|SH3RF2_uc003lnu.2_Nonsense_Mutation_p.W83*|SH3RF2_uc011dbn.1_Nonsense_Mutation_p.W83*|SH3RF2_uc011dbo.1_Nonsense_Mutation_p.W49*	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	592							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGAGGCCTGGATCCACTCC	0.637													A	145439648	G	A	145439648	3	1	257	1	0	0	0	0	1	0	0	0	14259	1357	47	4	1805	4	SH3RF2	5	145439648	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4104071	145439648	35475612	540	127472											
TCERG1	10915	broad.mit.edu	37	chr5	145838593	145838593	+	Silent	SNP	G	G	A													gcgcaggctcaggcccaggcGcaggctcaggcccaggcaca					rs140816235	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:145838593G>A	uc003lob.2	+	4	625	c.585G>A	c.(583-585)GCG>GCA	p.A195A	TCERG1_uc003loc.2_Silent_p.A195A|TCERG1_uc011dbt.1_Silent_p.A195A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	195	Potential.|Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		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	0.104													A	145838593	G	A	145838593	2	1	257	1	0	0	0	0	0	0	0	1	15682	1074	38	1		1	TCERG1	5	145838593	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	398945	145838593	35076667	541	127473	662	2									
TCERG1	10915	broad.mit.edu	37	chr5	145838596	145838596	+	Silent	SNP	G	G	A													caggctcaggcccaggcgcaGgctcaggcccaggcacaagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:145838596G>A	uc003lob.2	+	4	628	c.588G>A	c.(586-588)CAG>CAA	p.Q196Q	TCERG1_uc003loc.2_Silent_p.Q196Q|TCERG1_uc011dbt.1_Silent_p.Q196Q	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	196	Potential.|Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		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)			cccaggcgcaggctcaggccc	0.095													A	145838596	G	A	145838596	2	1	257	1	0	0	0	0	0	0	0	1	15682	991	35	4		4	TCERG1	5	145838596	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3	145838596	35076664	542	127474	662	2									
PPARGC1B	133522	broad.mit.edu	37	chr5	149206386	149206386	+	Frame_Shift_Del	DEL	C	C	-													cgcctgccccctcatctgcaCcccccagccctgccccggag					rs147140005		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:149206385_149206385AC>A	uc003lrc.3	+	2	493	c.402_402AC>A	c.(400-402)gcafs	p.A134fs	PPARGC1B_uc003lrb.2_Frame_Shift_Del_p.A134fs|PPARGC1B_uc003lrd.3_Frame_Shift_Del_p.A134fs|PPARGC1B_uc021yfr.1_Frame_Shift_Del_p.A109fs|PPARGC1B_uc003lre.1_Frame_Shift_Del_p.A113fs|PPARGC1B_uc003lrf.3_Frame_Shift_Del_p.A113fs	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	134					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator 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)			CCTCATCTGCACCCCCCAGCC	0.617													-	149206386	C	-	149206386	7	5	257	1	0	1	0	1	0	0	0	0	12301	507	18	0	420	0	PPARGC1B	5	149206386	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	3367790	149206386	31708874	543	127475											
SLC36A3	285641	broad.mit.edu	37	chr5	150660642	150660642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagctctctgacacttgGgagatggcaaacgggatgat	13	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:150660642G>A	uc003ltw.2	-	9	1496	c.1077C>T	c.(1075-1077)TCC>TCT	p.S359S	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.S344S|SLC36A3_uc003ltx.2_Silent_p.S400S	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	359	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGACACTTGGGAGATGGCAA	0.507													A	150660642	G	A	150660642	2	1	257	1	0	0	0	0	0	0	0	1	14595	1219	43	4		4	SLC36A3	5	150660642	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1454256	150660642	30254618	544	127476											
FAT2	2196	broad.mit.edu	37	chr5	150891874	150891874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagatctagagcctcttcGttgaccacgacagcatccag	9	13	2	3	rs138511375	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:150891874G>A	uc003lue.3	-	20	11770	c.11757C>T	c.(11755-11757)AAC>AAT	p.N3919N	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.N526N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3919	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTCTTCGTTGACCACGA	0.602													A	150891874	G	A	150891874	2	1	257	1	0	0	0	0	0	0	0	1	5690	1136	40	1		1	FAT2	5	150891874	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	231232	150891874	30023386	545	127477											
GEMIN5	25929	broad.mit.edu	37	chr5	154287348	154287348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttaggttgagagagcCgttttttctccaattcaata	8	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:154287348C>T	uc003lvx.3	-	16	2281	c.2198G>A	c.(2197-2199)CGG>CAG	p.R733Q	GEMIN5_uc011ddk.1_Missense_Mutation_p.R732Q	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	733					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAGAGAGCCGTTTTTTCTC	0.378													T	154287348	C	T	154287348	3	4	257	1	0	0	0	0	1	0	0	0	6331	652	23	1	2380	1	GEMIN5	5	154287348	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3395474	154287348	26627912	546	127478											
CCNJL	79616	broad.mit.edu	37	chr5	159738888	159738888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcgcagggtgcagtggaCgtccgaggcgacgcgccctt	16	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:159738888C>T	uc003lyb.1	-	2	295	c.43G>A	c.(43-45)GTC>ATC	p.V15I	CCNJL_uc011dee.1_Missense_Mutation_p.V15I|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Missense_Mutation_p.V15I	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	15	Cyclin N-terminal.					nucleus					0	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)			GTGCAGTGGACGTCCGAGGCG	0.647													T	159738888	C	T	159738888	3	4	257	1	0	0	0	0	1	0	0	0	2929	536	19	1	1288	1	CCNJL	5	159738888	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5451540	159738888	21176372	547	127479											
GABRB2	2561	broad.mit.edu	37	chr5	160763740	160763740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgcattatcatcgccaCgccagtaaaactcaatgtca	5	12	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:160763740C>T	uc003lys.1	-	7	796	c.578G>A	c.(577-579)CGT>CAT	p.R193H	GABRB2_uc011deh.1_Missense_Mutation_p.R32H|GABRB2_uc003lyr.1_Missense_Mutation_p.R193H|GABRB2_uc003lyt.1_Missense_Mutation_p.R193H|GABRB2_uc010jiu.1_Missense_Mutation_p.R130H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	193	Extracellular (Probable).				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				0	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)	ATCATCGCCACGCCAGTAAAA	0.279													T	160763740	C	T	160763740	3	4	257	1	0	0	0	0	1	0	0	0	6167	536	19	1	980	1	GABRB2	5	160763740	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1024852	160763740	20151520	548	127480											
ODZ2	57451	broad.mit.edu	37	chr5	167673928	167673928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcctgaaagcaatgcttCggtcatctttgactacagtg	9	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:167673928C>T	uc010jjd.2	+	27	5957	c.5957C>T	c.(5956-5958)TCG>TTG	p.S1986L	ODZ2_uc003lzr.3_Missense_Mutation_p.S1756L|ODZ2_uc003lzt.3_Missense_Mutation_p.S1359L|ODZ2_uc010jje.2_Missense_Mutation_p.S1250L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGCAATGCTTCGGTCATCTTT	0.537													T	167673928	C	T	167673928	3	4	257	1	0	0	0	0	1	0	0	0	10835	893	31	1	6063	1	ODZ2	5	167673928	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6910188	167673928	13241332	549	127481											
DOCK2	1794	broad.mit.edu	37	chr5	169116325	169116325	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagatgctcaacaatctgaaGgtggtcttcacggtgagtgt	13	7	4	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:169116325G>C	uc003maf.2	+	9	911	c.831G>C	c.(829-831)AAG>AAC	p.K277N	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	277					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			ovary(5)|pancreas(2)	7	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)			ACAATCTGAAGGTGGTCTTCA	0.542													C	169116325	G	C	169116325	3	2	257	1	0	0	0	0	1	0	0	0	4687	991	35	5	865	5	DOCK2	5	169116325	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1442397	169116325	11798935	550	127482											
FOXI1	2299	broad.mit.edu	37	chr5	169533117	169533117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccctccttcgaggggggCggcgagtatggggccacccc	17	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:169533117C>T	uc003mai.3	+	1	201	c.156C>T	c.(154-156)GGC>GGT	p.G52G	FOXI1_uc003maj.3_Silent_p.G52G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	52	Pro-rich.				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(1)	4	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)			TCGAGGGGGGCGGCGAGTATG	0.687									Pendred_syndrome				T	169533117	C	T	169533117	2	4	257	1	0	0	0	0	0	0	0	1	6009	755	27	1		1	FOXI1	5	169533117	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	416792	169533117	11382143	551	127483											
FGF18	8817	broad.mit.edu	37	chr5	170883662	170883662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccaagaaggggcggccGcggaagggccccaagacccg	15	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:170883662G>A	uc003mbk.2	+	5	1014	c.477G>A	c.(475-477)CCG>CCA	p.P159P		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	159					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGCGGCCGCGGAAGGGCC	0.592													A	170883662	G	A	170883662	2	1	257	1	0	0	0	0	0	0	0	1	5846	1074	38	1		1	FGF18	5	170883662	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1350545	170883662	10031598	552	127484											
FBXW11	23291	broad.mit.edu	37	chr5	171337640	171337640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagttaatatgtccatgCtgataatgacacattcgtga	8	6	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:171337640C>T	uc003mbm.1	-	3	680	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	FBXW11_uc011dey.1_Silent_p.Q71Q|FBXW11_uc003mbl.1_Silent_p.Q90Q|FBXW11_uc003mbn.1_Silent_p.Q69Q	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	103	Homodimerization domain D (By similarity).				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	p.N260_I262(1)		ovary(1)|breast(1)	2	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)			TATGTCCATGCTGATAATGAC	0.373													T	171337640	C	T	171337640	2	4	257	1	0	0	0	0	0	0	0	1	5764	796	28	2		2	FBXW11	5	171337640	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	453978	171337640	9577620	553	127485											
BOD1	91272	broad.mit.edu	37	chr5	173036293	173036293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccttcgggctctggAgggggtgctggcacagctgc	17	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:173036293A>G	uc003mcq.2	-	3	734	c.507T>C	c.(505-507)CCT>CCC	p.P169P	BOD1_uc003mcr.2_Intron	NM_138369	NP_612378	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	169					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				ovary(2)	2						CGGGCTCTGGAGGGGGTGCTG	0.527													G	173036293	A	G	173036293	2	3	257	1	0	0	0	0	0	0	0	1	1482	291	11	3		3	BOD1	5	173036293	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1698653	173036293	7878967	554	127486											
CDHR2	54825	broad.mit.edu	37	chr5	175998265	175998265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaaacgacaacgcacccGttttccagaacaccgctttc	6	14	0	2	rs142176546		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:175998265G>A	uc003mem.1	+	6	433	c.367G>A	c.(367-369)GTT>ATT	p.V123I	CDHR2_uc003men.1_Missense_Mutation_p.V123I	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	123	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CAACGCACCCGTTTTCCAGAA	0.522													A	175998265	G	A	175998265	3	1	257	1	0	0	0	0	1	0	0	0	3119	1145	40	1	385	1	CDHR2	5	175998265	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2961972	175998265	4916995	555	127487											
CDHR2	54825	broad.mit.edu	37	chr5	176004426	176004426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcaccttcctgttgtcGctggggggccccgatgcaga	14	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176004426G>A	uc003mem.1	+	13	1287	c.1221G>A	c.(1219-1221)TCG>TCA	p.S407S	CDHR2_uc003men.1_Silent_p.S407S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	407	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TCCTGTTGTCGCTGGGGGGCC	0.657													A	176004426	G	A	176004426	2	1	257	1	0	0	0	0	0	0	0	1	3119	1074	38	1		1	CDHR2	5	176004426	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6161	176004426	4910834	556	127488											
CDHR2	54825	broad.mit.edu	37	chr5	176011888	176011888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggctggttctcagtggCggccaacggctctgtgtaca	15	11	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176011888C>T	uc003mem.1	+	19	2672	c.2606C>T	c.(2605-2607)GCG>GTG	p.A869V	CDHR2_uc003men.1_Missense_Mutation_p.A869V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	869	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TTCTCAGTGGCGGCCAACGGC	0.607													T	176011888	C	T	176011888	3	4	257	1	0	0	0	0	1	0	0	0	3119	768	27	1	2676	1	CDHR2	5	176011888	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7462	176011888	4903372	557	127489											
CDHR2	54825	broad.mit.edu	37	chr5	176016106	176016106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacttcatctctaaggaCggggccaccatccctttcca	8	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176016106C>T	uc003mem.1	+	22	2997	c.2931C>T	c.(2929-2931)GAC>GAT	p.D977D	CDHR2_uc003men.1_Silent_p.D977D	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	977	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TCTCTAAGGACGGGGCCACCA	0.577													T	176016106	C	T	176016106	2	4	257	1	0	0	0	0	0	0	0	1	3119	535	19	1		1	CDHR2	5	176016106	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4218	176016106	4899154	558	127490											
NSD1	64324	broad.mit.edu	37	chr5	176700715	176700715	+	Frame_Shift_Del	DEL	A	A	-													gtttgaggaattaaaggcccAaaaagagctaagacagctgc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176700714_176700714CA>C	uc003mfr.4	+	16	5689	c.5551_5551CA>C	c.(5551-5553)caafs	p.Q1851fs	NSD1_uc003mft.4_Frame_Shift_Del_p.Q1582fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.Q1748fs|NSD1_uc011dfx.2_Frame_Shift_Del_p.Q1499fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1851					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)		ATTAAAGGCCCAAAAAGAGCT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			-	176700715	A	-	176700715	7	5	257	1	0	1	0	1	0	0	0	0	10669	130	5	0	5614	0	NSD1	5	176700715	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	684609	176700715	4214545	559	127491											
B4GALT7	11285	broad.mit.edu	37	chr5	177031390	177031390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgagcactgggaagaagaCgcatcctggggcccccaccg	13	15	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:177031390C>T	uc003mhy.2	+	2	301	c.261C>T	c.(259-261)GAC>GAT	p.D87D	B4GALT7_uc003mhz.2_Translation_Start_Site	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	87	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	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)			GGGAAGAAGACGCATCCTGGG	0.711													T	177031390	C	T	177031390	2	4	257	1	0	0	0	0	0	0	0	1	1276	535	19	1		1	B4GALT7	5	177031390	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	330675	177031390	3883870	560	127492											
ZNF354A	6940	broad.mit.edu	37	chr5	178140425	178140425	+	Frame_Shift_Del	DEL	T	T	-													gcttctttctatagtggggaTttttttgtgggtggctgaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:178140424_178140424AT>A	uc003mjj.3	-	4	653	c.455_455AT>T	c.(454-456)atcfs	p.I152fs		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	152					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		TATAGTGGGGATTTTTTTGTG	0.358													-	178140425	T	-	178140425	7	5	257	1	0	1	0	1	0	0	0	0	17861	1493	52	0	1367	0	ZNF354A	5	178140425	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1109035	178140425	2774835	561	127493											
FLT4	2324	broad.mit.edu	37	chr5	180057684	180057684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacaccttgcagtaggGcctggcgtctgtgccctcgc	12	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:180057684G>A	uc003mma.3	-	3	350	c.271C>T	c.(271-273)CCC>TCC	p.P91S	FLT4_uc003mlz.3_Missense_Mutation_p.P91S|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.P91S|FLT4_uc011dgz.1_Missense_Mutation_p.P91S|FLT4_uc011dha.1_Missense_Mutation_p.P91S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	91	Ig-like C2-type 1.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	TTGCAGTAGGGCCTGGCGTCT	0.632									Congenital_Hereditary_Lymphedema				A	180057684	G	A	180057684	3	1	257	1	0	0	0	0	1	0	0	0	5944	1203	42	2	3940	2	FLT4	5	180057684	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1917259	180057684	857576	562	127494											
IRF4	3662	broad.mit.edu	37	chr6	394848	394848	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtttaaaggaaagttcCgagaaggcatcgacaagccg	11	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:394848C>T	uc003msz.3	+	3	357	c.244C>T	c.(244-246)CGA>TGA	p.R82*	IRF4_uc010jne.1_Nonsense_Mutation_p.R82*|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Nonsense_Mutation_p.R82*|IRF4_uc003mtc.1_5'Flank	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	82	IRF tryptophan pentad repeat.				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			ovary(1)	1		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)		AGGAAAGTTCCGAGAAGGCAT	0.463			T	IGH@	MM 								T	394848	C	T	394848	4	4	257	1	0	0	0	0	0	1	0	0	7832	644	23	1	250	1	IRF4	6	394848	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08		394848	170720219	563	127495											
MYLK4	340156	broad.mit.edu	37	chr6	2693062	2693062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgacgggcatcctttccGtcaggtcggcgtttgaccac	11	12	1	2	rs114356072	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:2693062G>A	uc003mty.3	-	3	488	c.191C>T	c.(190-192)ACG>ATG	p.T64M		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	64							ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CATCCTTTCCGTCAGGTCGGC	0.378													A	2693062	G	A	2693062	3	1	257	1	0	0	0	0	1	0	0	0	10059	1145	40	1	1015	1	MYLK4	6	2693062	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2298214	2693062	168422005	564	127496											
RREB1	6239	broad.mit.edu	37	chr6	7230666	7230666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgcacgcactgcggccgCggcctgggcgggggccacaa	17	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:7230666C>T	uc003mxc.2	+	10	2724	c.2334C>T	c.(2332-2334)CGC>CGT	p.R778R	RREB1_uc003mxb.2_Silent_p.R778R|RREB1_uc010jnx.2_Silent_p.R778R	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	778					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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACTGCGGCCGCGGCCTGGGCG	0.697													T	7230666	C	T	7230666	2	4	257	1	0	0	0	0	0	0	0	1	13679	755	27	1		1	RREB1	6	7230666	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4537604	7230666	163884401	565	127497											
GFOD1	54438	broad.mit.edu	37	chr6	13365828	13365828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggggtagtagtgggcgGccgaggtcatgcggaaagcg	20	7	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:13365828G>A	uc003nat.1	-	2	985	c.320C>T	c.(319-321)GCC>GTC	p.A107V	GFOD1_uc003nas.1_Missense_Mutation_p.A4V	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	107						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GTAGTGGGCGGCCGAGGTCAT	0.652													A	13365828	G	A	13365828	3	1	257	1	0	0	0	0	1	0	0	0	6343	1203	42	2	856	2	GFOD1	6	13365828	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6135162	13365828	157749239	566	127498											
JARID2	3720	broad.mit.edu	37	chr6	15496636	15496637	+	Frame_Shift_Ins	INS	-	-	G													caaacaggtgctatccctcgINSggggggcgtccaagtccact							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:15496635_15496636C>CG	uc003nbj.3	+	6	1423_1424	c.1179_1180C>CG	c.(1177-1182)ctcgggfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Ins_p.L257fs|JARID2_uc011div.2_Frame_Shift_Ins_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Ins_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					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	p.L393L(2)		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)				TGCTATCCCTCGGGGGGGCGTC	0.574													G	15496637	-	G	15496636	7	5	257	1	0	1	1	0	0	0	0	0	7945	1116	39	0	1206	0	JARID2	6	15496636	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2130808	15496636	155618431	567	127499											
MBOAT1	154141	broad.mit.edu	37	chr6	20124681	20124681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggctttgaggcttgcaTgacaacatataagtagcaga	11	7	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:20124681T>C	uc003ncx.1	-	8	1070	c.865A>G	c.(865-867)ATG>GTG	p.M289V	MBOAT1_uc011dji.1_Missense_Mutation_p.M140V	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	289					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	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)			GAGGCTTGCATGACAACATAT	0.443													C	20124681	T	C	20124681	3	2	257	1	0	0	0	0	1	0	0	0	9356	1464	51	3	646	3	MBOAT1	6	20124681	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4628045	20124681	150990386	568	127500											
CDKAL1	54901	broad.mit.edu	37	chr6	21201396	21201396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggttgaagtggacatctAtgaatcaggcaaacatttta	10	5	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:21201396A>G	uc003ndc.1	+	15	1613	c.1439A>G	c.(1438-1440)TAT>TGT	p.Y480C	CDKAL1_uc003ndd.1_Missense_Mutation_p.Y480C|CDKAL1_uc003nde.1_Missense_Mutation_p.Y389C|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	480	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	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)			GTGGACATCTATGAATCAGGC	0.418													G	21201396	A	G	21201396	3	3	257	1	0	0	0	0	1	0	0	0	3152	449	16	3	1489	3	CDKAL1	6	21201396	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1076715	21201396	149913671	569	127501											
DCDC2	51473	broad.mit.edu	37	chr6	24301971	24301971	+	Frame_Shift_Del	DEL	T	T	-													agccccgctcctcagagtgaTtttttctgtgaccatttgta							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:24301970_24301970AT>A	uc003ndx.3	-	3	832	c.530_530AT>T	c.(529-531)atcfs	p.I177fs	DCDC2_uc003ndy.3_Frame_Shift_Del_p.I177fs	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	177	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCAGAGTGATTTTTTCTGT	0.438													-	24301971	T	-	24301971	7	5	257	1	0	1	0	1	0	0	0	0	4285	1493	52	0	929	0	DCDC2	6	24301971	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	3100575	24301971	146813096	570	127502											
KIAA0319	9856	broad.mit.edu	37	chr6	24547486	24547486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctccatcttttctcgGctgaagattgtgtcctggtc	8	13	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:24547486G>A	uc011djo.1	-	21	3363	c.3126C>T	c.(3124-3126)AGC>AGT	p.S1042S	KIAA0319_uc011djp.1_Silent_p.S997S|KIAA0319_uc003neh.1_Silent_p.S1042S|KIAA0319_uc011djq.1_Silent_p.S1033S|KIAA0319_uc011djr.1_Silent_p.S981S|KIAA0319_uc010jpt.1_Silent_p.S453S	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	1042	Cytoplasmic (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TCTTTTCTCGGCTGAAGATTG	0.473													A	24547486	G	A	24547486	2	1	257	1	0	0	0	0	0	0	0	1	8168	1194	42	2		2	KIAA0319	6	24547486	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	245515	24547486	146567581	571	127503											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217419	26217419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctggcaacgcggctcgcGacaataagaagacccgcatc	11	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:26217419G>A	uc003nha.1	+	1	272	c.217G>A	c.(217-219)GAC>AAC	p.D73N	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	73					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				CGCGGCTCGCGACAATAAGAA	0.612													A	26217419	G	A	26217419	3	1	257	1	0	0	0	0	1	0	0	0	7132	1058	37	1	219	1	HIST1H2AE	6	26217419	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1669933	26217419	144897648	572	127504											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217530	26217530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgcagggcggtgtcctgCccaacatccaggccgtattg	13	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:26217530C>T	uc003nha.1	+	1	383	c.328C>T	c.(328-330)CCC>TCC	p.P110S	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	110					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				CGGTGTCCTGCCCAACATCCA	0.572													T	26217530	C	T	26217530	3	4	257	1	0	0	0	0	1	0	0	0	7132	739	26	2	330	2	HIST1H2AE	6	26217530	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	111	26217530	144897537	573	127505											
PGBD1	84547	broad.mit.edu	37	chr6	28268977	28268977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctcagaaaaatgtcaGcttggaagtcacagttcagg	10	8	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:28268977G>T	uc003nky.2	+	7	1716	c.1346G>T	c.(1345-1347)AGC>ATC	p.S449I	PGBD1_uc003nkz.2_Missense_Mutation_p.S449I	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	449					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AAAAATGTCAGCTTGGAAGTC	0.353													T	28268977	G	T	28268977	3	4	257	1	0	0	0	0	1	0	0	0	11780	971	34	5	1368	5	PGBD1	6	28268977	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2051447	28268977	142846090	574	127506											
GABBR1	2550	broad.mit.edu	37	chr6	29577006	29577006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcagaagagaaacttacCggacatgtgagttgtagatg	12	6	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:29577006C>T	uc003nmt.3	-	15	2195	c.1859G>A	c.(1858-1860)CGT>CAT	p.R620H	GABBR1_uc003nmp.3_Missense_Mutation_p.R503H|GABBR1_uc003nms.3_Missense_Mutation_p.R503H|GABBR1_uc003nmu.3_Missense_Mutation_p.R558H|GABBR1_uc011dlr.1_Missense_Mutation_p.R443H|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	620	Cytoplasmic (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	AGAAACTTACCGGACATGTGA	0.458													T	29577006	C	T	29577006	3	4	257	1	0	0	0	0	1	0	0	0	6155	666	23	1	1062	1	GABBR1	6	29577006	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1308029	29577006	141538061	575	127507											
TRIM31	11074	broad.mit.edu	37	chr6	30078384	30078386	+	In_Frame_Del	DEL	CTC	CTC	-													cgtgatagcaggaaattcttCtcctcctctaggacttgatg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30078383_30078385TCTC>T	uc003npg.1	-	3	694_696	c.584_586GAGA>A	c.(583-588)gagaag>gAag	p.K196del	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	196						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						AGGAAATTCTTCTCCTCCTCTAG	0.493													-	30078386	CTC	-	30078384	7	5	257	1	0	1	0	1	0	0	0	0	16502	912	32	0	716	0	TRIM31	6	30078384	In_Frame_Del	DEL	CTC	TCGA-HU-8602-01A-11D-2394-08	501378	30078384	141036683	576	127508											
TRIM31	11074	broad.mit.edu	37	chr6	30080571	30080571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtttgttcacaaactgCccactggccatgacagaaca	8	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30080571C>T	uc003npg.1	-	2	122	c.12G>A	c.(10-12)GGG>GGA	p.G4G	TRIM31_uc003npi.3_RNA	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	tripartite motif protein 31	4						mitochondrion	ligase activity|zinc ion binding			lung(1)	1						TCACAAACTGCCCACTGGCCA	0.517													T	30080571	C	T	30080571	2	4	257	1	0	0	0	0	0	0	0	1	16502	726	26	2		2	TRIM31	6	30080571	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2187	30080571	141034496	577	127509											
TRIM39	56658	broad.mit.edu	37	chr6	30308351	30308351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaacttcagcaatttTccccgacagtactttgccct	6	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30308351T>C	uc010jrz.2	+	8	1275	c.963T>C	c.(961-963)TTT>TTC	p.F321F	TRIM39_uc003npz.2_Silent_p.F291F|TRIM39_uc003nqb.2_Silent_p.F291F|TRIM39_uc003nqc.2_Silent_p.F291F|TRIM39_uc010jsa.1_Silent_p.F291F	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	321	B30.2/SPRY.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						TCAGCAATTTTCCCCGACAGT	0.418													C	30308351	T	C	30308351	2	2	257	1	0	0	0	0	0	0	0	1	16510	1780	62	3		3	TRIM39	6	30308351	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	227780	30308351	140806716	578	127510											
DHX16	8449	broad.mit.edu	37	chr6	30624769	30624769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgattccatgcctgtgCgggggttgtagctcttctgc	14	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30624769C>T	uc003nqz.2	-	13	2320	c.2108G>A	c.(2107-2109)CGC>CAC	p.R703H	DHX16_uc003nqy.2_Missense_Mutation_p.R222H|DHX16_uc011dmo.1_Missense_Mutation_p.R643H	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	703	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						CATGCCTGTGCGGGGGTTGTA	0.557													T	30624769	C	T	30624769	3	4	257	1	0	0	0	0	1	0	0	0	4502	768	27	1	1049	1	DHX16	6	30624769	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	316418	30624769	140490298	579	127511											
MICB	4277	broad.mit.edu	37	chr6	31473409	31473409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagccccacagtcttcGttacaacctcatggtgctgt	8	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31473409G>A	uc003ntn.3	+	2	202	c.86G>A	c.(85-87)CGT>CAT	p.R29H	MICB_uc011dnm.1_5'UTR|MICB_uc003nto.3_Missense_Mutation_p.R29H	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	29	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						CACAGTCTTCGTTACAACCTC	0.522													A	31473409	G	A	31473409	3	1	257	1	0	0	0	0	1	0	0	0	9575	1145	40	1	92	1	MICB	6	31473409	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	848640	31473409	139641658	580	127512											
BAT5	7920	broad.mit.edu	37	chr6	31661161	31661161	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttcttcccagtggaAgtcgactggccagctccgga	14	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31661161A>C	uc003nvy.1	-	6	508	c.478T>G	c.(478-480)TTC>GTC	p.F160V	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.F127V|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.T61T	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	160						integral to membrane	hydrolase activity|protein binding				0						TCCCAGTGGAAGTCGACTGGC	0.567													C	31661161	A	C	31661161	3	2	257	1	0	0	0	0	1	0	0	0	1324	72	3	5	1258	5	BAT5	6	31661161	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	187752	31661161	139453906	581	127513											
MSH5	4439	broad.mit.edu	37	chr6	31727272	31727272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcattgctgggggaccTgcactgcgagatccggggtg	18	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31727272T>C	uc003nwv.1	+	17	1557	c.1478T>C	c.(1477-1479)CTG>CCG	p.L493P	MSH5_uc003nwt.1_Missense_Mutation_p.L510P|MSH5_uc003nwu.1_Missense_Mutation_p.L493P|MSH5_uc003nww.1_Missense_Mutation_p.L493P|MSH5_uc003nwx.1_Missense_Mutation_p.L510P|MSH5_uc011dof.1_Missense_Mutation_p.L192P|MSH5_uc003nwy.1_Missense_Mutation_p.L167P|MSH5_uc003nwz.3_RNA	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	493					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						CTGGGGGACCTGCACTGCGAG	0.527								Direct_reversal_of_damage|MMR					C	31727272	T	C	31727272	3	2	257	1	0	0	0	0	1	0	0	0	9873	1580	55	3	1591	3	MSH5	6	31727272	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	66111	31727272	139387795	582	127514											
SLC44A4	80736	broad.mit.edu	37	chr6	31833125	31833125	+	Frame_Shift_Del	DEL	T	T	-													gcatgagtagcatgaacgcaTttttggctgagacacagaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31833124_31833124AT>A	uc010jti.3	-	16	1794	c.1728_1728AT>T	c.(1726-1728)aatfs	p.N576fs	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Frame_Shift_Del_p.N500fs|SLC44A4_uc011dom.2_Frame_Shift_Del_p.N534fs	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	576						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)	GCATGAACGCATTTTTGGCTG	0.567													-	31833125	T	-	31833125	7	5	257	1	0	1	0	1	0	0	0	0	14638	1493	52	0	425	0	SLC44A4	6	31833125	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	105853	31833125	139281942	583	127515											
EHMT2	10919	broad.mit.edu	37	chr6	31854829	31854829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggctgcatgcaggggCgtgcgcttgctctgctggtc	18	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31854829C>T	uc003nxz.1	-	16	2071	c.2061G>A	c.(2059-2061)ACG>ACA	p.T687T	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.T478T|EHMT2_uc011don.1_Silent_p.T710T|EHMT2_uc003nya.1_Silent_p.T653T	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	687	ANK 2.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CATGCAGGGGCGTGCGCTTGC	0.657													T	31854829	C	T	31854829	2	4	257	1	0	0	0	0	0	0	0	1	4984	755	27	1		1	EHMT2	6	31854829	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	21704	31854829	139260238	584	127516											
EGFL8	80864	broad.mit.edu	37	chr6	32134319	32134321	+	In_Frame_Del	DEL	ACA	ACA	-													actggtggtcccgctccactAcaacgagtcctacagccaac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:32134318_32134320TACA>T	uc003oab.1	+	2	252_254	c.145_147TACA>T	c.(145-147)tac>T	p.Y49del	EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_3'UTR|EGFL8_uc003oac.1_In_Frame_Del_p.Y49del	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	49	EMI.					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						CCCGCTCCACTACAACGAGTCCT	0.606													-	32134321	ACA	-	32134319	7	5	257	1	0	1	0	1	0	0	0	0	4965	391	14	0	152	0	EGFL8	6	32134319	In_Frame_Del	DEL	ACA	TCGA-HU-8602-01A-11D-2394-08	279490	32134319	138980748	585	127517											
NOTCH4	4855	broad.mit.edu	37	chr6	32189085	32189085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttggctgaacagaagtcccGaagctggcactgctcacctg	12	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:32189085G>A	uc003obb.2	-	4	608	c.469C>T	c.(469-471)CGG>TGG	p.R157W	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.R157W	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	157	Extracellular (Potential).|EGF-like 4.				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CAGAAGTCCCGAAGCTGGCAC	0.572													A	32189085	G	A	32189085	3	1	257	1	0	0	0	0	1	0	0	0	10551	1057	37	1	5650	1	NOTCH4	6	32189085	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	54766	32189085	138925982	586	127518											
B3GALT4	8705	broad.mit.edu	37	chr6	33245916	33245917	+	Frame_Shift_Ins	INS	-	-	G													tgaacccctctcggacaccgINSgggggcaggcaccgcgtatc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33245915_33245916C>CG	uc003odr.3	+	0	999_1000	c.719_720C>CG	c.(718-720)ccgfs	p.P240fs		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	240					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCTCGGACACCGGGGGGCAGGC	0.644													G	33245917	-	G	33245916	7	5	257	1	0	1	1	0	0	0	0	0	1249	1103	39	0	722	0	B3GALT4	6	33245916	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1056831	33245916	137869151	587	127519											
B3GALT4	8705	broad.mit.edu	37	chr6	33246150	33246150	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgccacccactacccGctagaccggtgctgctatgg	12	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33246150G>T	uc003odr.2	+	1	1234	c.954G>T	c.(952-954)CCG>CCT	p.P318P		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	318	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						CCCACTACCCGCTAGACCGGT	0.617													T	33246150	G	T	33246150	2	4	257	1	0	0	0	0	0	0	0	1	1249	1074	38	5		5	B3GALT4	6	33246150	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	234	33246150	137868917	588	127520											
TAPBP	6892	broad.mit.edu	37	chr6	33272343	33272343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgggacacaaggcagAgcaattccgggggtgcctcc	15	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33272343A>C	uc003odx.1	-	5	1112	c.941T>G	c.(940-942)CTC>CGC	p.L314R	TAPBP_uc010jus.1_Missense_Mutation_p.L332R|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Missense_Mutation_p.L314R|TAPBP_uc010jut.1_Missense_Mutation_p.L227R|TAPBP_uc011drc.1_Missense_Mutation_p.L314R	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	314	Ig-like C1-type.|Lumenal (Potential).				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			ovary(1)	1						CACAAGGCAGAGCAATTCCGG	0.657													C	33272343	A	C	33272343	3	2	257	1	0	0	0	0	1	0	0	0	15549	304	11	5	601	5	TAPBP	6	33272343	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	26193	33272343	137842724	589	127521											
ITPR3	3710	broad.mit.edu	37	chr6	33663508	33663508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacggagcagcggaaacGcaggcaacgcctaggctttg	15	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33663508G>A	uc011drk.1	+	58	8186	c.7967G>A	c.(7966-7968)CGC>CAC	p.R2656H	C6orf125_uc003oez.1_RNA	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2656	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CAGCGGAAACGCAGGCAACGC	0.602													A	33663508	G	A	33663508	3	1	257	1	0	0	0	0	1	0	0	0	7922	1087	38	1	8197	1	ITPR3	6	33663508	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	391165	33663508	137451559	590	127522											
GRM4	2914	broad.mit.edu	37	chr6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgccctgctcgaagatgCggtagatgcggttggtcttg	15	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:34003851C>T	uc003oir.3	-	8	2206	c.2036G>A	c.(2035-2037)CGC>CAC	p.R679H	GRM4_uc011dsn.1_Missense_Mutation_p.R632H|GRM4_uc010jvh.2_Missense_Mutation_p.R679H|GRM4_uc010jvi.2_Missense_Mutation_p.R371H|GRM4_uc003oio.2_Missense_Mutation_p.R371H|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R539H|GRM4_uc003oiq.2_Missense_Mutation_p.R546H|GRM4_uc011dsm.1_Missense_Mutation_p.R510H	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	679	Cytoplasmic (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CTCGAAGATGCGGTAGATGCG	0.627													T	34003851	C	T	34003851	3	4	257	1	0	0	0	0	1	0	0	0	6799	768	27	1	714	1	GRM4	6	34003851	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	340343	34003851	137111216	591	127523											
SCUBE3	222663	broad.mit.edu	37	chr6	35196408	35196408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgtggatgagtgcgagCgagaggataatgcaggttgt	17	5	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35196408C>T	uc003okf.1	+	3	232	c.226C>T	c.(226-228)CGA>TGA	p.R76*	SCUBE3_uc003okg.1_Nonsense_Mutation_p.R76*|SCUBE3_uc003okh.1_5'UTR	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	76	EGF-like 2; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TGAGTGCGAGCGAGAGGATAA	0.537													T	35196408	C	T	35196408	4	4	257	1	0	0	0	0	0	1	0	0	13946	760	27	1	236	1	SCUBE3	6	35196408	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1192557	35196408	135918659	592	127524											
TULP1	7287	broad.mit.edu	37	chr6	35466128	35466128	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcaggccagcttcccgtcGaaactggagagggcgatggc	15	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35466128G>A	uc003okv.3	-	15	1617	c.1605C>T	c.(1603-1605)TTC>TTT	p.F535F	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Silent_p.F482F	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	535					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			ovary(2)|central_nervous_system(1)	3						GCTTCCCGTCGAAACTGGAGA	0.687													A	35466128	G	A	35466128	2	1	257	1	0	0	0	0	0	0	0	1	16770	1049	37	1		1	TULP1	6	35466128	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	269720	35466128	135648939	593	127525											
TULP1	7287	broad.mit.edu	37	chr6	35467757	35467757	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggccctcaggtactcaCggtcatcagcgtggacaatc	11	14	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35467757C>T	uc003okv.3	-	14	1507	c.1495_splice	c.e14+1	p.P499_splice	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Splice_Site_p.P446_splice	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1						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			ovary(2)|central_nervous_system(1)	3						CAGGTACTCACGGTCATCAGC	0.592													T	35467757	C	T	35467757	5	4	257	1	0	0	0	0	0	0	1	0	16770	550	19	1	140	1	TULP1	6	35467757	Splice_Site	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1629	35467757	135647310	594	127526											
SLC26A8	116369	broad.mit.edu	37	chr6	35965630	35965630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagatcccatgaccagtTgaccgttgttgaatgggctc	11	10	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35965630T>C	uc003olm.2	-	5	623	c.512A>G	c.(511-513)CAA>CGA	p.Q171R	SLC26A8_uc003oln.2_Missense_Mutation_p.Q171R|SLC26A8_uc003oll.2_Missense_Mutation_p.Q171R	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	171	Extracellular (Potential).				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			ovary(2)	2						CATGACCAGTTGACCGTTGTT	0.463													C	35965630	T	C	35965630	3	2	257	1	0	0	0	0	1	0	0	0	14523	1812	63	3	2464	3	SLC26A8	6	35965630	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	497873	35965630	135149437	595	127527											
BRPF3	27154	broad.mit.edu	37	chr6	36168884	36168887	+	Frame_Shift_Del	DEL	CTCC	CTCC	-													atgccgctgctgcctgcagtCtccctcccggcctgtggatt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:36168883_36168886TCTCC>T	uc003olv.4	+	1	1008_1011	c.784_787TCTCC>T	c.(784-789)tctcccfs	p.S262fs	BRPF3_uc010jwb.3_Frame_Shift_Del_p.S262fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.S262fs	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	262					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	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						CTGCCTGCAGTCTCCCTCCCGGCC	0.578													-	36168887	CTCC	-	36168884	7	5	257	1	0	1	0	1	0	0	0	0	1521	913	32	0	787	0	BRPF3	6	36168884	Frame_Shift_Del	DEL	CTCC	TCGA-HU-8602-01A-11D-2394-08	203254	36168884	134946183	596	127528											
TBC1D22B	55633	broad.mit.edu	37	chr6	37250063	37250063	+	Frame_Shift_Del	DEL	C	C	-													ggatcagaacgcttctggggCccccccaatgactgtccggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:37250062_37250062GC>G	uc003onn.3	+	3	669	c.523_523GC>G	c.(523-525)gccfs	p.A175fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	175						intracellular	Rab GTPase activator activity	p.A175P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CGCTTCTGGGGCCCCCCCAAT	0.572													-	37250063	C	-	37250063	7	5	257	1	0	1	0	1	0	0	0	0	15609	739	26	0	538	0	TBC1D22B	6	37250063	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	1081179	37250063	133865004	597	127529											
MDGA1	266727	broad.mit.edu	37	chr6	37614111	37614111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccccttctccacacgcCggaccgggatggccttgacc	11	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:37614111C>T	uc003onu.1	-	11	3266	c.2087G>A	c.(2086-2088)CGG>CAG	p.R696Q	MDGA1_uc003onv.1_5'UTR	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	696	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CTCCACACGCCGGACCGGGAT	0.537													T	37614111	C	T	37614111	3	4	257	1	0	0	0	0	1	0	0	0	9406	652	23	1	808	1	MDGA1	6	37614111	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	364048	37614111	133500956	598	127530											
DNAH8	1769	broad.mit.edu	37	chr6	38828322	38828322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttggatcaaactgtggtGtctattacagatgttgattt	10	4	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:38828322G>A	uc003ooe.1	+	41	5997	c.5397G>A	c.(5395-5397)GTG>GTA	p.V1799V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAACTGTGGTGTCTATTACAG	0.318													A	38828322	G	A	38828322	2	1	257	1	0	0	0	0	0	0	0	1	4607	1364	48	4		4	DNAH8	6	38828322	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1214211	38828322	132286745	599	127531											
DNAH8	1769	broad.mit.edu	37	chr6	38862578	38862578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accataaaagctgaggagtgCgcttcaatccctactctcct	7	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:38862578C>T	uc003ooe.1	+	57	8634	c.8034C>T	c.(8032-8034)TGC>TGT	p.C2678C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CTGAGGAGTGCGCTTCAATCC	0.438													T	38862578	C	T	38862578	2	4	257	1	0	0	0	0	0	0	0	1	4607	776	27	1		1	DNAH8	6	38862578	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	34256	38862578	132252489	600	127532											
FOXP4	116113	broad.mit.edu	37	chr6	41555186	41555186	+	Frame_Shift_Del	DEL	C	C	-													ccgctccccccaaggtctcaCcccccctctcccaccatacc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:41555185_41555185AC>A	uc003oql.3	+	6	1265	c.807_807AC>A	c.(805-807)tcafs	p.S269fs	FOXP4_uc003oqm.3_Frame_Shift_Del_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.S268fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	269					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|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			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCT	0.677											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	41555186	C	-	41555186	7	5	257	1	0	1	0	1	0	0	0	0	6029	507	18	0	830	0	FOXP4	6	41555186	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	2692608	41555186	129559881	601	127533											
FOXP4	116113	broad.mit.edu	37	chr6	41557781	41557781	+	Frame_Shift_Del	DEL	C	C	-													ttcccagatggtctcgtgcaCcccccgacctcggccgcagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:41557780_41557780AC>A	uc003oql.3	+	10	1687	c.1229_1229AC>A	c.(1228-1230)cacfs	p.H410fs	FOXP4_uc003oqm.3_Frame_Shift_Del_p.H408fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.H397fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	410					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|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			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGTCTCGTGCACCCCCCGACC	0.677													-	41557781	C	-	41557781	7	5	257	1	0	1	0	1	0	0	0	0	6029	506	18	0	1268	0	FOXP4	6	41557781	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	2595	41557781	129557286	602	127534											
PGC	5225	broad.mit.edu	37	chr6	41710153	41710153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgatgccatcaaactgCgcatagacgaagttggtacc	9	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:41710153C>T	uc003ora.1	-	5	571	c.522G>A	c.(520-522)GCG>GCA	p.A174A		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	174					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CATCAAACTGCGCATAGACGA	0.597													T	41710153	C	T	41710153	2	4	257	1	0	0	0	0	0	0	0	1	11785	755	27	1		1	PGC	6	41710153	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	152372	41710153	129404914	603	127535											
PEX6	5190	broad.mit.edu	37	chr6	42934036	42934036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccagaagggtcttgccGgtgccagggggcccatggag	18	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:42934036G>A	uc003otf.2	-	11	2337	c.2244C>T	c.(2242-2244)ACC>ACT	p.T748T	PEX6_uc010jya.2_Intron	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	748	ATP (Potential).				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			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)			GGGTCTTGCCGGTGCCAGGGG	0.647													A	42934036	G	A	42934036	2	1	257	1	0	0	0	0	0	0	0	1	11750	1103	39	1		1	PEX6	6	42934036	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1223883	42934036	128181031	604	127536											
CAPN11	11131	broad.mit.edu	37	chr6	44148518	44148518	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtatgagctccagaggCtgctcaacaggatggccatc	14	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:44148518C>T	uc003owt.1	+	17	1818	c.1780C>T	c.(1780-1782)CTG>TTG	p.L594L	CAPN11_uc011dvn.1_Silent_p.L248L	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	594	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	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)			GCTCCAGAGGCTGCTCAACAG	0.602													T	44148518	C	T	44148518	2	4	257	1	0	0	0	0	0	0	0	1	2624	796	28	2		2	CAPN11	6	44148518	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1214482	44148518	126966549	605	127537											
RUNX2	860	broad.mit.edu	37	chr6	45390355	45390355	+	Frame_Shift_Del	DEL	C	C	-													agcaccagccggcgcttcagCcccccctccagcagcctgca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:45390354_45390354GC>G	uc011dvx.2	+	2	293	c.83_83GC>G	c.(82-84)agcfs	p.S28fs	RUNX2_uc011dvy.2_Frame_Shift_Del_p.S28fs|RUNX2_uc003oxt.3_Frame_Shift_Del_p.S14fs	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	28					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						CGGCGCTTCAGCCCCCCCTCC	0.647													-	45390355	C	-	45390355	7	5	257	1	0	1	0	1	0	0	0	0	13748	738	26	0	106	0	RUNX2	6	45390355	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	1241837	45390355	125724712	606	127538											
TDRD6	221400	broad.mit.edu	37	chr6	46661330	46661330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaacacattactaccacAtgctaatgaaacaaaggaga	5	8	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:46661330A>G	uc003oyj.2	+	1	5465	c.5465A>G	c.(5464-5466)CAT>CGT	p.H1822R	TDRD6_uc010jze.2_Missense_Mutation_p.H1816R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1822					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TTACTACCACATGCTAATGAA	0.378													G	46661330	A	G	46661330	3	3	257	1	0	0	0	0	1	0	0	0	15731	217	8	3	5467	3	TDRD6	6	46661330	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1270975	46661330	124453737	607	127539											
GPR116	221395	broad.mit.edu	37	chr6	46826552	46826552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcttccacaactagacAggctgccaagctcaagatgg	9	13	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:46826552A>G	uc003oyo.3	-	17	3377	c.3088T>C	c.(3088-3090)TGT>CGT	p.C1030R	GPR116_uc011dwj.1_Missense_Mutation_p.C585R|GPR116_uc011dwk.1_Missense_Mutation_p.C459R|GPR116_uc003oyp.3_Missense_Mutation_p.C888R|GPR116_uc003oyq.3_Missense_Mutation_p.C1030R|GPR116_uc010jzi.1_Missense_Mutation_p.C702R	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1030	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			ACAACTAGACAGGCTGCCAAG	0.502													G	46826552	A	G	46826552	3	3	257	1	0	0	0	0	1	0	0	0	6633	188	7	3	972	3	GPR116	6	46826552	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	165222	46826552	124288515	608	127540											
GCM1	8521	broad.mit.edu	37	chr6	52993439	52993439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactccacgcttgtagatcGccatgatcagagtagactcc	8	12	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:52993439G>A	uc003pbp.2	-	6	1085	c.876C>T	c.(874-876)GGC>GGT	p.G292G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	292						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					CTTGTAGATCGCCATGATCAG	0.473													A	52993439	G	A	52993439	2	1	257	1	0	0	0	0	0	0	0	1	6297	1074	38	1		1	GCM1	6	52993439	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6166887	52993439	118121628	609	127541											
GFRAL	389400	broad.mit.edu	37	chr6	55266626	55266626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaagcaagagatccttcatCgatccaaatacctggagaac	7	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:55266626C>T	uc003pcm.1	+	9	1246	c.1160C>T	c.(1159-1161)TCG>TTG	p.S387L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	387	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GATCCTTCATCGATCCAAATA	0.264													T	55266626	C	T	55266626	3	4	257	1	0	0	0	0	1	0	0	0	6351	893	31	1	1194	1	GFRAL	6	55266626	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2273187	55266626	115848441	610	127542											
DST	667	broad.mit.edu	37	chr6	56434717	56434717	+	Frame_Shift_Del	DEL	T	T	-													gaaggctgtacaatgggaacTttttttgttgtttcttttat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:56434716_56434716CT>C	uc003pcy.4	-	34	6055	c.5947_5947AG>G	c.(5947-5949)gttfs	p.V1983fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4395					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.E1983Q(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)			ACAATGGGAACTTTTTTTGTT	0.333													-	56434717	T	-	56434717	7	5	257	1	0	1	0	1	0	0	0	0	4783	1606	56	0	9769	0	DST	6	56434717	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1168091	56434717	114680350	611	127543											
BAI3	577	broad.mit.edu	37	chr6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacggagtatgggaggaatGgtcaccatggagtttatgtt	14	5	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:69653743G>T	uc003pev.3	+	6	1500	c.1052G>T	c.(1051-1053)TGG>TTG	p.W351L	BAI3_uc010kak.2_Missense_Mutation_p.W351L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	351	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGGGAGGAATGGTCACCATGG	0.403													T	69653743	G	T	69653743	3	4	257	1	0	0	0	0	1	0	0	0	1300	1357	47	5	1066	5	BAI3	6	69653743	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	13219026	69653743	101461324	612	127544											
BAI3	577	broad.mit.edu	37	chr6	70034893	70034893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacggcttataagaaaaCgctttttgtgccttggatgg	12	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:70034893C>T	uc003pev.3	+	21	3392	c.2944C>T	c.(2944-2946)CGC>TGC	p.R982C	BAI3_uc010kak.2_Missense_Mutation_p.R982C|BAI3_uc011dxx.1_Missense_Mutation_p.R188C|BAI3_uc003pex.1_Missense_Mutation_p.R112C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	982	Helical; Name=4; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TATAAGAAAACGCTTTTTGTG	0.403													T	70034893	C	T	70034893	3	4	257	1	0	0	0	0	1	0	0	0	1300	536	19	1	3018	1	BAI3	6	70034893	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	381150	70034893	101080174	613	127545											
BAI3	577	broad.mit.edu	37	chr6	70098683	70098683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatcaatgtcttagacaCagaggcaaaggatgctttgg	10	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:70098683C>T	uc003pev.3	+	32	4917	c.4469C>T	c.(4468-4470)ACA>ATA	p.T1490I	BAI3_uc010kak.2_Missense_Mutation_p.T1490I|BAI3_uc011dxx.1_Missense_Mutation_p.T696I	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1490	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GTCTTAGACACAGAGGCAAAG	0.458													T	70098683	C	T	70098683	3	4	257	1	0	0	0	0	1	0	0	0	1300	478	17	4	4587	4	BAI3	6	70098683	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	63790	70098683	101016384	614	127546											
FAM135A	57579	broad.mit.edu	37	chr6	71238145	71238145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgattgtctgtgtgcaCggtttagatggtatgtgaca	12	6	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:71238145C>T	uc003pfj.2	+	14	3898	c.3765C>T	c.(3763-3765)CAC>CAT	p.H1255H	FAM135A_uc003pfi.2_Silent_p.H1059H|FAM135A_uc003pfh.2_Silent_p.H1042H|FAM135A_uc003pfl.2_Silent_p.H922H|FAM135A_uc003pfn.2_Silent_p.H461H|FAM135A_uc003pfo.1_Silent_p.H626H|FAM135A_uc010kan.1_Silent_p.H34H	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1255										central_nervous_system(1)	1						TCTGTGTGCACGGTTTAGATG	0.373													T	71238145	C	T	71238145	2	4	257	1	0	0	0	0	0	0	0	1	5448	535	19	1		1	FAM135A	6	71238145	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1139462	71238145	99876922	615	127547											
LCA5	167691	broad.mit.edu	37	chr6	80228605	80228605	+	Frame_Shift_Del	DEL	C	C	-													acctggacttcctgctctttCccccattgttttgaaaaatg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:80228604_80228604TC>T	uc003piy.3	-	2	620	c.8_8GA>A	c.(7-9)gaafs	p.E3fs	LCA5_uc003pix.3_Frame_Shift_Del_p.E3fs|LCA5_uc011dyr.2_Frame_Shift_Del_p.E3fs	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	3					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)		TCCTGCTCTTTCCCCCATTGT	0.383													-	80228605	C	-	80228605	7	5	257	1	0	1	0	1	0	0	0	0	8656	864	30	0	2114	0	LCA5	6	80228605	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	8990460	80228605	90886462	616	127548											
IBTK	25998	broad.mit.edu	37	chr6	82891683	82891683	+	Frame_Shift_Del	DEL	T	T	-													aactatggctagtaacagacTttttttcttctagtaagaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:82891683delT	uc003pjl.1	-	26	4165	c.3638delA	c.(3637-3639)AAGfs	p.K1213fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1213					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		AGTAACAGACTTTTTTTCTTC	0.343													-	82891683	T	-	82891683	7	5	257	1	0	1	0	1	0	0	0	0	7476	1609	56	0	439	0	IBTK	6	82891683	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	2663078	82891683	88223384	617	127549											
KIAA1009	22832	broad.mit.edu	37	chr6	84930884	84930884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttcaaaagaatcatcTgaaagctgaattagatataa	6	4	3	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:84930884T>C	uc010kbp.2	-	3	160	c.63A>G	c.(61-63)TCA>TCG	p.S21S	KIAA1009_uc003pkj.3_5'UTR|KIAA1009_uc003pkk.2_Silent_p.S21S	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	21					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		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)		AAGAATCATCTGAAAGCTGAA	0.308													C	84930884	T	C	84930884	2	2	257	1	0	0	0	0	0	0	0	1	8203	1567	55	3		3	KIAA1009	6	84930884	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2039201	84930884	86184183	618	127550											
C6orf162	57150	broad.mit.edu	37	chr6	88046820	88046820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagtttcaaagcccagGgctcagaggggtgcgcacaa	14	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:88046820G>T	uc003plp.1	+	3	160	c.71G>T	c.(70-72)GGG>GTG	p.G24V	C6orf164_uc003plr.2_RNA|C6orf162_uc003plq.1_Missense_Mutation_p.G24V	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN	hypothetical protein LOC57150	24						integral to membrane					0		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		CAAAGCCCAGGGCTCAGAGGG	0.403													T	88046820	G	T	88046820	3	4	257	1	0	0	0	0	1	0	0	0	2340	1232	43	5	73	5	C6orf162	6	88046820	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3115936	88046820	83068247	619	127551											
PNRC1	10957	broad.mit.edu	37	chr6	89793717	89793717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgagaacattaaaaattcGcatttgaagaaatcagcatt	6	7	1	3	rs147195455		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:89793717G>A	uc003pmv.2	+	2	971	c.786G>A	c.(784-786)TCG>TCA	p.S262S	PNRC1_uc003pmu.2_Silent_p.S242S|PNRC1_uc003pmx.2_Silent_p.S77S	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		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)		TTAAAAATTCGCATTTGAAGA	0.358										Multiple Myeloma(7;0.094)			A	89793717	G	A	89793717	2	1	257	1	0	0	0	0	0	0	0	1	12174	1074	38	1		1	PNRC1	6	89793717	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1746897	89793717	81321350	620	127552											
MDN1	23195	broad.mit.edu	37	chr6	90359786	90359786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactagaagagtcatcgataGccaaacaaatctgatactgg	8	8	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:90359786G>A	uc003pnn.1	-	97	16279	c.16163C>T	c.(16162-16164)GCT>GTT	p.A5388V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5388	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		GTCATCGATAGCCAAACAAAT	0.408													A	90359786	G	A	90359786	3	1	257	1	0	0	0	0	1	0	0	0	9415	971	34	2	651	2	MDN1	6	90359786	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	566069	90359786	80755281	621	127553											
POU3F2	5454	broad.mit.edu	37	chr6	99284015	99284015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggactctgccgggcgcCgaggatgtgtacggggggag	22	8	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:99284015C>T	uc003ppe.2	+	1	1436	c.1266C>T	c.(1264-1266)GCC>GCT	p.A422A		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	422					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		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)		TGCCGGGCGCCGAGGATGTGT	0.622													T	99284015	C	T	99284015	2	4	257	1	0	0	0	0	0	0	0	1	12275	639	23	1		1	POU3F2	6	99284015	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8924229	99284015	71831052	622	127554											
GRIK2	2898	broad.mit.edu	37	chr6	102074490	102074490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtggaaaaccgtcacGgttgtgtatgatgacagcac	11	8	2	2	rs147153195		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:102074490G>A	uc003pqp.3	+	3	768	c.519G>A	c.(517-519)ACG>ACA	p.T173T	GRIK2_uc003pqn.2_Silent_p.T173T|GRIK2_uc003pqo.3_Silent_p.T173T|GRIK2_uc010kcw.2_Silent_p.T173T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	173	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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													A	102074490	G	A	102074490	2	1	257	1	0	0	0	0	0	0	0	1	6774	1103	39	1		1	GRIK2	6	102074490	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2790475	102074490	69040577	623	127555											
HACE1	57531	broad.mit.edu	37	chr6	105239495	105239495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattctcacaatccttaaaaGgctcttcatttgagcatcat	4	11	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:105239495G>T	uc003pqu.1	-	11	1235	c.958C>A	c.(958-960)CTT>ATT	p.L320I	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.L320I	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	320					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		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)		ATCCTTAAAAGGCTCTTCATT	0.318													T	105239495	G	T	105239495	3	4	257	1	0	0	0	0	1	0	0	0	6940	1000	35	5	1827	5	HACE1	6	105239495	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3165005	105239495	65875572	624	127556											
PRDM1	639	broad.mit.edu	37	chr6	106536269	106536269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggtacttcggttcaggCggaggcatccttaccaagga	14	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:106536269C>T	uc003prd.2	+	2	470	c.236C>T	c.(235-237)GCG>GTG	p.A79V		NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	79					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q42fs*23(1)|p.?(1)		haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	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)		TCGGTTCAGGCGGAGGCATCC	0.498			D|N|Mis|F|S		DLBCL								T	106536269	C	T	106536269	3	4	257	1	0	0	0	0	1	0	0	0	12450	768	27	1	242	1	PRDM1	6	106536269	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1296774	106536269	64578798	625	127557											
PRDM1	639	broad.mit.edu	37	chr6	106553564	106553564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgaaggacaaggcctGtagccccacaagcgggtctc	12	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:106553564G>A	uc003prd.2	+	5	1763	c.1529G>A	c.(1528-1530)TGT>TAT	p.C510Y	PRDM1_uc003pre.2_Missense_Mutation_p.C376Y	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	510					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	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)		GACAAGGCCTGTAGCCCCACA	0.672			D|N|Mis|F|S		DLBCL								A	106553564	G	A	106553564	3	1	257	1	0	0	0	0	1	0	0	0	12450	1377	48	4	1560	4	PRDM1	6	106553564	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	17295	106553564	64561503	626	127558											
ATG5	9474	broad.mit.edu	37	chr6	106634461	106634461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatatgaagaaaattatccGggtagctcagatgttcactc	8	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:106634461G>A	uc003prf.2	-	8	1135	c.782C>T	c.(781-783)CCG>CTG	p.P261L	ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Missense_Mutation_p.P183L|ATG5_uc010kdc.2_3'UTR	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	APG5 autophagy 5-like	261					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			large_intestine(1)	1	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		AAAATTATCCGGGTAGCTCAG	0.398													A	106634461	G	A	106634461	3	1	257	1	0	0	0	0	1	0	0	0	1100	1116	39	1	49	1	ATG5	6	106634461	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	80897	106634461	64480606	627	127559											
SLC22A16	85413	broad.mit.edu	37	chr6	110763711	110763711	+	Frame_Shift_Del	DEL	T	T	-													cttggccatgatgtcaactaTtttttgtgcttcttcatatc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:110763710_110763710AT>A	uc003puf.3	-	3	987	c.920_920AT>T	c.(919-921)atafs	p.I307fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.I288fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	307					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)		GATGTCAACTATTTTTTGTGC	0.473													-	110763711	T	-	110763711	7	5	257	1	0	1	0	1	0	0	0	0	14447	1493	52	0	834	0	SLC22A16	6	110763711	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	4129250	110763711	60351356	628	127560											
REV3L	5980	broad.mit.edu	37	chr6	111656711	111656711	+	Frame_Shift_Del	DEL	A	A	-													acatgtaaaaactgaatgccAaaaagtctagccatctcact							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:111656710_111656710CA>C	uc003puy.4	-	21	7983	c.7642_7642TG>G	c.(7642-7644)ggcfs	p.G2548fs	REV3L_uc003pux.4_Frame_Shift_Del_p.G2470fs|REV3L_uc003puz.4_Frame_Shift_Del_p.G2470fs|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2548					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)		AACTGAATGCCAAAAAGTCTA	0.408								DNA polymerases (catalytic subunits)					-	111656711	A	-	111656711	7	5	257	1	0	1	0	1	0	0	0	0	13240	127	5	0	1795	0	REV3L	6	111656711	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	893000	111656711	59458356	629	127561											
REV3L	5980	broad.mit.edu	37	chr6	111695847	111695847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtacaaacttaacctcAgcaccagactgagattttat	5	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:111695847A>G	uc003puy.3	-	13	4034	c.3711T>C	c.(3709-3711)GCT>GCC	p.A1237A	REV3L_uc003pux.3_Silent_p.A1159A|REV3L_uc003puz.3_Silent_p.A1159A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1237					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		ACTTAACCTCAGCACCAGACT	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	111695847	A	G	111695847	2	3	257	1	0	0	0	0	0	0	0	1	13240	175	7	3		3	REV3L	6	111695847	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	39136	111695847	59419220	630	127562											
FRK	2444	broad.mit.edu	37	chr6	116277749	116277749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattatctgtgcctccctcAggaagtcatttggatccatt	7	11	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:116277749A>G	uc003pwi.1	-	5	1271	c.824T>C	c.(823-825)CTG>CCG	p.L275P		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	275	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGCCTCCCTCAGGAAGTCATT	0.398													G	116277749	A	G	116277749	3	3	257	1	0	0	0	0	1	0	0	0	6048	188	7	3	709	3	FRK	6	116277749	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	4581902	116277749	54837318	631	127563											
FAM26E	254228	broad.mit.edu	37	chr6	116836954	116836955	+	Frame_Shift_Ins	INS	-	-	T													gcgagaggaacctgaaatgtINSttttttgaaaacaagaggcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:116836953_116836954G>GT	uc003pwy.3	+	1	783_784	c.731_732G>GT	c.(730-732)tgtfs	p.C244fs	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	244						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACCTGAAATGTTTTTTTGAAA	0.46													T	116836955	-	T	116836954	7	5	257	1	0	1	1	0	0	0	0	0	5550	1731	60	0	738	0	FAM26E	6	116836954	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	559205	116836954	54278113	632	127564											
ROS1	6098	broad.mit.edu	37	chr6	117631391	117631391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccaatcttcactatcCgtggactggtatagtctttc	7	11	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:117631391C>T	uc003pxp.1	-	40	6486	c.6287G>A	c.(6286-6288)CGG>CAG	p.R2096Q	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2096	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		CTTCACTATCCGTGGACTGGT	0.393			T	GOPC|ROS1	glioblastoma|NSCLC								T	117631391	C	T	117631391	3	4	257	1	0	0	0	0	1	0	0	0	13531	652	23	1	772	1	ROS1	6	117631391	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	794437	117631391	53483676	633	127565											
PTPRK	5796	broad.mit.edu	37	chr6	128311944	128311944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgtcctaactacataTtcagcaagtggttccatttc	7	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:128311944T>C	uc003qbk.2	-	21	3430	c.3063A>G	c.(3061-3063)GAA>GAG	p.E1021E	PTPRK_uc003qbj.2_Silent_p.E1022E|PTPRK_uc010kfc.2_Silent_p.E1028E|PTPRK_uc011ebu.1_Silent_p.E1044E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1021	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAACTACATATTCAGCAAGTG	0.328													C	128311944	T	C	128311944	2	2	257	1	0	0	0	0	0	0	0	1	12805	1490	52	3		3	PTPRK	6	128311944	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	10680553	128311944	42803123	634	127566											
C6orf191	253582	broad.mit.edu	37	chr6	130182311	130182311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctttaccttgcttggaGcaactctgacctggagagcc	9	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:130182311G>A	uc003qbs.2	-	1	106	c.23C>T	c.(22-24)GCT>GTT	p.A8V		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	8						integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		CTTGCTTGGAGCAACTCTGAC	0.443													A	130182311	G	A	130182311	3	1	257	1	0	0	0	0	1	0	0	0	2348	971	34	2	383	2	C6orf191	6	130182311	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1870367	130182311	40932756	635	127567											
L3MBTL3	84456	broad.mit.edu	37	chr6	130370502	130370502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgttaaaaaagcaactGctaccaccacttggatggta	7	8	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:130370502G>A	uc003qbt.2	+	4	348	c.178G>A	c.(178-180)GCT>ACT	p.A60T	L3MBTL3_uc003qbu.2_Missense_Mutation_p.A60T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	60					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAAAGCAACTGCTACCACCAC	0.378													A	130370502	G	A	130370502	3	1	257	1	0	0	0	0	1	0	0	0	8593	1319	46	2	184	2	L3MBTL3	6	130370502	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	188191	130370502	40744565	636	127568											
L3MBTL3	84456	broad.mit.edu	37	chr6	130454682	130454682	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccaattccatgtctgccCttgcgctgggagcagcaaag	10	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:130454682C>A	uc003qbt.2	+	21	2222	c.2052C>A	c.(2050-2052)CCC>CCA	p.P684P	L3MBTL3_uc003qbu.2_Silent_p.P659P	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	684					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CATGTCTGCCCTTGCGCTGGG	0.507													A	130454682	C	A	130454682	2	1	257	1	0	0	0	0	0	0	0	1	8593	668	24	5		5	L3MBTL3	6	130454682	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	84180	130454682	40660385	637	127569											
ENPP3	5169	broad.mit.edu	37	chr6	132045205	132045205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagctggaacaagtgaatcAgatgctaaatctcacccaag	8	10	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:132045205A>G	uc003qcu.3	+	20	2119	c.1772A>G	c.(1771-1773)CAG>CGG	p.Q591R	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.Q591R	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	591	Extracellular (Potential).				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			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAAGTGAATCAGATGCTAAAT	0.378													G	132045205	A	G	132045205	3	3	257	1	0	0	0	0	1	0	0	0	5131	188	7	3	1846	3	ENPP3	6	132045205	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1590523	132045205	39069862	638	127570											
TNFAIP3	7128	broad.mit.edu	37	chr6	138195987	138195987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgtcctcaggtgacGgcaattgcctcatgcatgcc	9	14	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:138195987G>A	uc003qhr.2	+	3	367	c.301G>A	c.(301-303)GGC>AGC	p.G101S	TNFAIP3_uc003qhs.2_Missense_Mutation_p.G101S	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	101	TRAF-binding.|OTU.				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?(22)|p.G101fs*38(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCAGGTGACGGCAATTGCCT	0.488			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								A	138195987	G	A	138195987	3	1	257	1	0	0	0	0	1	0	0	0	16271	1116	39	1	307	1	TNFAIP3	6	138195987	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6150782	138195987	32919080	639	127571											
PHACTR2	9749	broad.mit.edu	37	chr6	144086746	144086746	+	Frame_Shift_Del	DEL	C	C	-													tccagcaccttctcctctggCcccccctctccctcttgagg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:144086745_144086745GC>G	uc010khi.3	+	5	1241	c.1042_1042GC>G	c.(1042-1044)gccfs	p.A348fs	PHACTR2_uc003qjq.4_Frame_Shift_Del_p.A337fs|PHACTR2_uc010khh.3_Frame_Shift_Del_p.A257fs|PHACTR2_uc003qjr.4_Frame_Shift_Del_p.A268fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	337							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)		TTCTCCTCTGGCCCCCCCTCT	0.587													-	144086746	C	-	144086746	7	5	257	1	0	1	0	1	0	0	0	0	11810	739	26	0	1082	0	PHACTR2	6	144086746	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	5890759	144086746	27028321	640	127572											
GRM1	2911	broad.mit.edu	37	chr6	146720722	146720722	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggaatgtccgcagtgcCttcaccacctctgatgttgt	11	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:146720722C>A	uc010khw.1	+	8	3017	c.2547C>A	c.(2545-2547)GCC>GCA	p.A849A	GRM1_uc010khv.1_Silent_p.A849A|GRM1_uc003qll.2_Silent_p.A849A|GRM1_uc011edz.1_Silent_p.A849A|GRM1_uc011eea.1_Silent_p.A849A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	849	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCGCAGTGCCTTCACCACCT	0.532													A	146720722	C	A	146720722	2	1	257	1	0	0	0	0	0	0	0	1	6796	668	24	5		5	GRM1	6	146720722	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2633976	146720722	24394345	641	127573											
GRM1	2911	broad.mit.edu	37	chr6	146755477	146755477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcagcaacttcagtaccGcgatcccggattttcacgcg	10	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:146755477G>A	uc010khw.1	+	9	3600	c.3130G>A	c.(3130-3132)GCG>ACG	p.A1044T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1044	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTTCAGTACCGCGATCCCGGA	0.667													A	146755477	G	A	146755477	3	1	257	1	0	0	0	0	1	0	0	0	6796	1087	38	1	3225	1	GRM1	6	146755477	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	34755	146755477	24359590	642	127574											
STXBP5	134957	broad.mit.edu	37	chr6	147588297	147588297	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgactacagatacacataTgatgaggtaatattattttt	7	6	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:147588297T>C	uc003qlz.2	+	7	869	c.708T>C	c.(706-708)TAT>TAC	p.Y236Y	STXBP5_uc010khz.1_Silent_p.Y236Y|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	236					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GATACACATATGATGAGGTAA	0.323													C	147588297	T	C	147588297	2	2	257	1	0	0	0	0	0	0	0	1	15355	1471	51	3		3	STXBP5	6	147588297	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	832820	147588297	23526770	643	127575											
STXBP5	134957	broad.mit.edu	37	chr6	147648266	147648266	+	Frame_Shift_Del	DEL	T	T	-													ttttcctattcccagggtggTttttggcaattgcaatggca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:147648265_147648265GT>G	uc003qlz.3	+	17	2108	c.1933_1933GT>G	c.(1933-1935)gttfs	p.V645fs	STXBP5_uc010khz.2_Frame_Shift_Del_p.V645fs|STXBP5_uc003qly.3_Frame_Shift_Del_p.V316fs|STXBP5_uc003qma.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	645					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)		TCCCAGGGTGGTTTTTGGCAA	0.388													-	147648266	T	-	147648266	7	5	257	1	0	1	0	1	0	0	0	0	15355	1725	60	0	2004	0	STXBP5	6	147648266	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	59969	147648266	23466801	644	127576											
PCMT1	5110	broad.mit.edu	37	chr6	150123459	150123459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaatgaagcctctgatgGgggtgatatacgtgccttta	11	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:150123459G>A	uc003qne.2	+	7	835	c.802G>A	c.(802-804)GGG>AGG	p.G268R	PCMT1_uc003qna.2_Missense_Mutation_p.G268R|PCMT1_uc003qnb.2_Missense_Mutation_p.G268R|PCMT1_uc011eeg.1_Missense_Mutation_p.G233R|PCMT1_uc003qnc.2_Missense_Mutation_p.G147R|PCMT1_uc003qnd.2_Missense_Mutation_p.G233R|PCMT1_uc003qnf.2_Missense_Mutation_p.G233R	NM_005389	NP_005380			protein-L-isoaspartate (D-aspartate)											ovary(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		GCCTCTGATGGGGGTGATATA	0.443													A	150123459	G	A	150123459	3	1	257	1	0	0	0	0	1	0	0	0	11585	1232	43	4	828	4	PCMT1	6	150123459	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2475193	150123459	20991608	645	127577											
ZBTB2	57621	broad.mit.edu	37	chr6	151687158	151687158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcggcctgctccaggTtgtcaatgtcagcaatgtct	11	12	3	0	rs149628106		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:151687158T>C	uc003qoh.2	-	3	1178	c.1043A>G	c.(1042-1044)AAC>AGC	p.N348S		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTGCTCCAGGTTGTCAATGTC	0.537													C	151687158	T	C	151687158	3	2	257	1	0	0	0	0	1	0	0	0	17525	1725	60	3	505	3	ZBTB2	6	151687158	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1563699	151687158	19427909	646	127578											
ZBTB2	57621	broad.mit.edu	37	chr6	151687648	151687648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtccgattcacctgggCcagatttgaagtcagctggg	12	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:151687648C>T	uc003qoh.2	-	3	688	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTCACCTGGGCCAGATTTGAA	0.587													T	151687648	C	T	151687648	3	4	257	1	0	0	0	0	1	0	0	0	17525	739	26	2	995	2	ZBTB2	6	151687648	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	490	151687648	19427419	647	127579											
ARID1B	57492	broad.mit.edu	37	chr6	157488172	157488172	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctttctcttcctgtAggcaaggcagtttccccggc	11	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:157488172A>G	uc003qqn.2	+	9	2819	c.2667_splice	c.e9-2	p.R889_splice	ARID1B_uc003qqo.2_Splice_Site_p.R902_splice|ARID1B_uc003qqp.2_Splice_Site_p.R889_splice|ARID1B_uc010kjl.2_Splice_Site_p.R87_splice	NM_017519	NP_059989	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			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTCTTCCTGTAGGCAAGGCAG	0.512													G	157488172	A	G	157488172	5	3	257	1	0	0	0	0	0	0	1	0	914	434	15	3	2916	3	ARID1B	6	157488172	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5800524	157488172	13626895	648	127580											
IGF2R	3482	broad.mit.edu	37	chr6	160494972	160494972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgtcctgccggagccGctgtgtgcaaagttcctatt	11	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:160494972G>A	uc003qta.2	+	35	5279	c.5131G>A	c.(5131-5133)GCT>ACT	p.A1711T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1711	Lumenal (Potential).|12.				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGCCGGAGCCGCTGTGTGCAA	0.463													A	160494972	G	A	160494972	3	1	257	1	0	0	0	0	1	0	0	0	7576	1087	38	1	5269	1	IGF2R	6	160494972	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3006800	160494972	10620095	649	127581											
T	6862	broad.mit.edu	37	chr6	166579295	166579295	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctcactatgtggattcGaggctcatacttatgcaagg	9	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:166579295G>A	uc003quu.1	-	4	998	c.505C>T	c.(505-507)CGA>TGA	p.R169*	T_uc003qut.1_Nonsense_Mutation_p.R169*|T_uc003quv.1_Nonsense_Mutation_p.R169*	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	169	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		ATGTGGATTCGAGGCTCATAC	0.498									Chordoma_Familial_Clustering_of				A	166579295	G	A	166579295	4	1	257	1	0	0	0	0	0	1	0	0	15485	1066	37	1	826	1	T	6	166579295	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6084323	166579295	4535772	650	127582											
T	6862	broad.mit.edu	37	chr6	166580151	166580151	+	Frame_Shift_Del	DEL	C	C	-													gggagccttcatccagtgggCcccgaagttgggcgagtcgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:166580150_166580150GC>G	uc003qut.1	-	1	687	c.401_401GC>C	c.(400-402)gccfs	p.A134fs	T_uc003quu.1_Frame_Shift_Del_p.A134fs|T_uc003quv.1_Frame_Shift_Del_p.A134fs	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	134					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A134G(2)		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)		CATCCAGTGGGCCCCGAAGTT	0.657									Chordoma, Familial Clustering of				-	166580151	C	-	166580151	7	5	257	1	0	1	0	1	0	0	0	0	15485	739	26	0	935	0	T	6	166580151	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	856	166580151	4534916	651	127583											
TTLL2	83887	broad.mit.edu	37	chr6	167753909	167753909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgtatggcacttcccTgtaccagttcatccccctga	9	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:167753909T>C	uc003qvs.1	+	3	609	c.521T>C	c.(520-522)CTG>CCG	p.L174P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	174	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		GGCACTTCCCTGTACCAGTTC	0.522													C	167753909	T	C	167753909	3	2	257	1	0	0	0	0	1	0	0	0	16724	1580	55	3	531	3	TTLL2	6	167753909	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1173758	167753909	3361158	652	127584											
MLLT4	4301	broad.mit.edu	37	chr6	168315898	168315899	+	Frame_Shift_Del	DEL	AG	AG	-													tgtccttgctacgacgctgcAgagtcaatgccgccctgacc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:168315897_168315898CAG>C	uc021zik.1	+	17	2524_2525	c.2205_2206CAG>C	c.(2203-2208)tgcagafs	p.C735fs	MLLT4_uc003qwb.1_Frame_Shift_Del_p.C760fs|MLLT4_uc003qwc.2_Frame_Shift_Del_p.C776fs|MLLT4_uc021zij.1_Frame_Shift_Del_p.C760fs|MLLT4_uc021zim.1_Frame_Shift_Del_p.C322fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.C85fs	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	776	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)		TACGACGCTGCAGAGTCAATGC	0.535			T	MLL	AL								-	168315899	AG	-	168315898	7	5	257	1	0	1	0	1	0	0	0	0	9629	180	7	0	2399	0	MLLT4	6	168315898	Frame_Shift_Del	DEL	AG	TCGA-HU-8602-01A-11D-2394-08	561989	168315898	2799169	653	127585											
MLLT4	4301	broad.mit.edu	37	chr6	168352326	168352326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtatgagaaggagaaggCccgcctggaggaggagcggg	20	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:168352326C>T	uc003qwd.2	+	29	4410	c.4268C>T	c.(4267-4269)GCC>GTC	p.A1423V	MLLT4_uc003qwb.1_Missense_Mutation_p.A1408V|MLLT4_uc003qwc.1_Missense_Mutation_p.A1424V|MLLT4_uc003qwg.1_Missense_Mutation_p.A733V	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1424	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		AAGGAGAAGGCCCGCCTGGAG	0.602			T	MLL	AL								T	168352326	C	T	168352326	3	4	257	1	0	0	0	0	1	0	0	0	9629	739	26	2	4385	2	MLLT4	6	168352326	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	36428	168352326	2762741	654	127586											
THBS2	7058	broad.mit.edu	37	chr6	169637357	169637357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactggggagttgcagagaCggatgcgtgtgatattgcca	16	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:169637357C>T	uc003qwt.2	-	10	1633	c.1385G>A	c.(1384-1386)CGT>CAT	p.R462H		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	462	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		GTTGCAGAGACGGATGCGTGT	0.602													T	169637357	C	T	169637357	3	4	257	1	0	0	0	0	1	0	0	0	15851	536	19	1	2189	1	THBS2	6	169637357	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1285031	169637357	1477710	655	127587											
C6orf70	55780	broad.mit.edu	37	chr6	170162628	170162628	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagactcctgactgctgagGtaagcttgtttttattattg	9	6	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:170162628G>C	uc003qxg.1	+	9	993	c.960_splice	c.e9+1	p.E320_splice	C6orf70_uc011ehb.1_Splice_Site_p.E194_splice|C6orf70_uc003qxh.1_Splice_Site_p.E320_splice|C6orf70_uc010kky.1_Splice_Site_p.E194_splice	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780							integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GACTGCTGAGGTAAGCTTGTT	0.348													C	170162628	G	C	170162628	5	2	257	1	0	0	0	0	0	0	1	0	2370	1275	44	5	995	5	C6orf70	6	170162628	Splice_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08	525271	170162628	952439	656	127588											
HEATR2	54919	broad.mit.edu	37	chr7	813802	813802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgtcctgcctctgggcGctcaccagcagcgaggtcct	13	16	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:813802G>A	uc010krz.1	+	10	2069	c.2049G>A	c.(2047-2049)GCG>GCA	p.A683A	HEATR2_uc003siz.2_Silent_p.A551A|HEATR2_uc003sjb.2_Silent_p.A63A|HEATR2_uc003sjc.2_Silent_p.A108A	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	683							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GCCTCTGGGCGCTCACCAGCA	0.706													A	813802	G	A	813802	2	1	257	1	0	0	0	0	0	0	0	1	7028	1074	38	1		1	HEATR2	7	813802	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08		813802	158324861	657	127589											
CYP2W1	54905	broad.mit.edu	37	chr7	1026290	1026290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacccatggctcggggccCtgctccagctgcaccggccc	11	19	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:1026290C>A	uc003sjq.1	+	5	689	c.676C>A	c.(676-678)CTG>ATG	p.L226M	CYP2W1_uc003sjr.1_Missense_Mutation_p.L226M	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	226					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				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTCGGGGCCCTGCTCCAGCT	0.697													A	1026290	C	A	1026290	3	1	257	1	0	0	0	0	1	0	0	0	4176	680	24	5	694	5	CYP2W1	7	1026290	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	212488	1026290	158112373	658	127590											
PSMG3	84262	broad.mit.edu	37	chr7	1608845	1608845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctccagggagaccaggGtgcccatcttcccaaactgg	13	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:1608845G>A	uc003skx.2	-	1	785	c.131C>T	c.(130-132)ACC>ATC	p.T44I	PSMG3_uc011jvx.1_Missense_Mutation_p.T44I|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	proteasome assembling chaperone 3	44											0		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		GGAGACCAGGGTGCCCATCTT	0.597													A	1608845	G	A	1608845	3	1	257	1	0	0	0	0	1	0	0	0	12713	1261	44	4	245	4	PSMG3	7	1608845	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	582555	1608845	157529818	659	127591											
EIF3B	8662	broad.mit.edu	37	chr7	2405962	2405962	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctaggtacctggtgAcctttagccccctgatggac	9	13	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:2405962A>T	uc003slx.2	+	7	1251	c.1168A>T	c.(1168-1170)ACC>TCC	p.T390S	EIF3B_uc003sly.2_Missense_Mutation_p.T390S|EIF3B_uc003sma.2_Missense_Mutation_p.T118S	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	390	Sufficient for interaction with EIF3E.|WD 2.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTACCTGGTGACCTTTAGCCC	0.547													T	2405962	A	T	2405962	3	4	257	1	0	0	0	0	1	0	0	0	5013	275	10	5	1194	5	EIF3B	7	2405962	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	797117	2405962	156732701	660	127592											
CARD11	84433	broad.mit.edu	37	chr7	2976790	2976790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctcctccagctcgcGgatctgcttcctgtacttgt	8	14	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:2976790G>A	uc003smv.2	-	9	1626	c.1222C>T	c.(1222-1224)CGC>TGC	p.R408C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	408	Potential.				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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCAGCTCGCGGATCTGCTTC	0.587			Mis		DLBCL								A	2976790	G	A	2976790	3	1	257	1	0	0	0	0	1	0	0	0	2645	1116	39	1	2310	1	CARD11	7	2976790	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	570828	2976790	156161873	661	127593											
RNF216	54476	broad.mit.edu	37	chr7	5751450	5751450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcactgtccaacagagccGgaaagctacaggacgggcac	11	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:5751450G>A	uc003soy.1	-	13	2022	c.1832C>T	c.(1831-1833)CCG>CTG	p.P611L	RNF216_uc010ksz.1_Missense_Mutation_p.P233L|RNF216_uc010kta.1_Missense_Mutation_p.P233L|RNF216_uc011jwj.1_Missense_Mutation_p.P233L|RNF216_uc003sox.1_Missense_Mutation_p.P668L	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	611	IBR-type.				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|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAACAGAGCCGGAAAGCTACA	0.453													A	5751450	G	A	5751450	3	1	257	1	0	0	0	0	1	0	0	0	13480	1116	39	1	788	1	RNF216	7	5751450	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2774660	5751450	153387213	662	127594											
USP42	84132	broad.mit.edu	37	chr7	6189484	6189484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaccctaccaagcccGttccctcttctaccattacc	5	17	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:6189484G>A	uc011jwo.1	+	13	1780	c.1657G>A	c.(1657-1659)GTT>ATT	p.V553I	USP42_uc010kth.1_Missense_Mutation_p.V486I|USP42_uc011jwp.1_Missense_Mutation_p.V553I|USP42_uc011jwq.1_Missense_Mutation_p.V360I|USP42_uc011jwr.1_Missense_Mutation_p.V398I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	553					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TACCAAGCCCGTTCCCTCTTC	0.433													A	6189484	G	A	6189484	3	1	257	1	0	0	0	0	1	0	0	0	17070	1145	40	1	1703	1	USP42	7	6189484	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	438034	6189484	152949179	663	127595											
DAGLB	221955	broad.mit.edu	37	chr7	6449982	6449982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttcctccaaacagttcGtaccacaaaccgtgcagcaa	8	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:6449982G>A	uc003sqa.2	-	14	1769	c.1599C>T	c.(1597-1599)TAC>TAT	p.Y533Y	DAGLB_uc003spy.2_Silent_p.Y79Y|DAGLB_uc003spz.2_Silent_p.Y230Y|DAGLB_uc011jwt.1_Silent_p.Y347Y|DAGLB_uc011jwu.1_Silent_p.Y404Y|DAGLB_uc003sqb.2_Silent_p.Y252Y|DAGLB_uc003sqc.2_Silent_p.Y252Y|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.Y492Y	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	533	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAAACAGTTCGTACCACAAAC	0.567													A	6449982	G	A	6449982	2	1	257	1	0	0	0	0	0	0	0	1	4227	1140	40	1		1	DAGLB	7	6449982	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	260498	6449982	152688681	664	127596											
MIOS	54468	broad.mit.edu	37	chr7	7612652	7612652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccactttatgagttaggAcagaatgatgcttgtctgtc	9	7	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:7612652A>G	uc003srf.2	+	4	854	c.546A>G	c.(544-546)GGA>GGG	p.G182G	MIOS_uc010ktp.1_Silent_p.G182G	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	182	WD 3.										0						ATGAGTTAGGACAGAATGATG	0.383													G	7612652	A	G	7612652	2	3	257	1	0	0	0	0	0	0	0	1	9589	262	10	3		3	MIOS	7	7612652	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1162670	7612652	151526011	665	127597											
TWIST1	7291	broad.mit.edu	37	chr7	19156645	19156645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctcctcgtaagactgCggactcccgccgccgctgct	11	17	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:19156645C>T	uc003sum.2	-	1	651	c.300G>A	c.(298-300)CCG>CCA	p.P100P		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	100					aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						CGTAAGACTGCGGACTCccgc	0.522									Saethre-Chotzen_syndrome				T	19156645	C	T	19156645	2	4	257	1	0	0	0	0	0	0	0	1	16780	755	27	1		1	TWIST1	7	19156645	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	11543993	19156645	139982018	666	127598											
SP4	6671	broad.mit.edu	37	chr7	21550662	21550662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagagatttgaatgcccGgaatgttctaaaaggtttat	10	4	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:21550662G>A	uc003sva.2	+	6	2311	c.2130G>A	c.(2128-2130)CCG>CCA	p.P710P	SP4_uc003svb.2_Silent_p.P397P	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	710	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TTGAATGCCCGGAATGTTCTA	0.368													A	21550662	G	A	21550662	2	1	257	1	0	0	0	0	0	0	0	1	14966	1103	39	1		1	SP4	7	21550662	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2394017	21550662	137588001	667	127599											
GPNMB	10457	broad.mit.edu	37	chr7	23309629	23309629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatttctgaccccacctgcGagatcacccagaacacagtc	6	16	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:23309629G>A	uc003swc.2	+	9	1461	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K	GPNMB_uc003swb.2_Missense_Mutation_p.E422K|GPNMB_uc011jyy.1_Missense_Mutation_p.E376K|GPNMB_uc011jyz.1_Missense_Mutation_p.E323K	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	434	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CCCCACCTGCGAGATCACCCA	0.577													A	23309629	G	A	23309629	3	1	257	1	0	0	0	0	1	0	0	0	6620	1059	37	1	1334	1	GPNMB	7	23309629	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1758967	23309629	135829034	668	127600											
TRA2A	29896	broad.mit.edu	37	chr7	23545380	23545380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacttgggctgtaggaacGagatcttgatcgtgatctat	11	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:23545380G>A	uc003swi.2	-	7	1037	c.823C>T	c.(823-825)CGT>TGT	p.R275C	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R174C|TRA2A_uc011jzd.1_Missense_Mutation_p.R174C	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	275	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CTGTAGGAACGAGATCTTGAT	0.338													A	23545380	G	A	23545380	3	1	257	1	0	0	0	0	1	0	0	0	16430	1058	37	1	33	1	TRA2A	7	23545380	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	235751	23545380	135593283	669	127601											
NPY	4852	broad.mit.edu	37	chr7	24324899	24324899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgtccggactgaccCtcgccctgtccctgctcgtg	13	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:24324899C>A	uc003sww.1	+	2	126	c.40C>A	c.(40-42)CTC>ATC	p.L14I		NM_000905	NP_000896	P01303	NPY_HUMAN	neuropeptide Y precursor	14					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				0						CGGACTGACCCTCGCCCTGTC	0.677													A	24324899	C	A	24324899	3	1	257	1	0	0	0	0	1	0	0	0	10607	681	24	5	42	5	NPY	7	24324899	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	779519	24324899	134813764	670	127602											
C7orf31	136895	broad.mit.edu	37	chr7	25194712	25194712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgcgggctttaatgccCgtgtagaggtcctcaggtga	16	8	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:25194712C>T	uc003sxn.1	-	6	1074	c.513G>A	c.(511-513)ACG>ACA	p.T171T	C7orf31_uc003sxm.1_Silent_p.T13T	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	171											0						CTTTAATGCCCGTGTAGAGGT	0.527													T	25194712	C	T	25194712	2	4	257	1	0	0	0	0	0	0	0	1	2387	639	23	1		1	C7orf31	7	25194712	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	869813	25194712	133943951	671	127603											
SFRP4	6424	broad.mit.edu	37	chr7	37947147	37947147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttcttgggactggcTggtttgggagcaggaggctt	16	6	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:37947147T>C	uc003tfo.3	-	6	1361	c.975A>G	c.(973-975)CCA>CCG	p.P325P		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	325					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			lung(1)	1						TGGGACTGGCTGGTTTGGGAG	0.502													C	37947147	T	C	37947147	2	2	257	1	0	0	0	0	0	0	0	1	14163	1567	55	3		3	SFRP4	7	37947147	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	12752435	37947147	121191516	672	127604											
EPDR1	54749	broad.mit.edu	37	chr7	37960370	37960370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggctaccgggactcgCgcgtccggatctcaaaagcg	13	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:37960370C>T	uc003tfp.2	+	1	208	c.189C>T	c.(187-189)CGC>CGT	p.R63R	EPDR1_uc003tfq.2_Silent_p.R63R|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						CCGGGACTCGCGCGTCCGGAT	0.677													T	37960370	C	T	37960370	2	4	257	1	0	0	0	0	0	0	0	1	5163	755	27	1		1	EPDR1	7	37960370	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	13223	37960370	121178293	673	127605											
CDK13	8621	broad.mit.edu	37	chr7	40037187	40037187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccgctgccccctgagctaCcaggaggagatgatctttca	10	13	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:40037187C>T	uc003thh.3	+	3	2248	c.1966C>T	c.(1966-1968)CCA>TCA	p.P656S	CDK13_uc003thi.3_Missense_Mutation_p.P656S|CDK13_uc011kbf.1_Missense_Mutation_p.P42S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	656					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			lung(2)|skin(2)|ovary(1)	5						CCCTGAGCTACCAGGAGGAGA	0.408													T	40037187	C	T	40037187	3	4	257	1	0	0	0	0	1	0	0	0	3129	507	18	4	1976	4	CDK13	7	40037187	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2076817	40037187	119101476	674	127606											
INHBA	3624	broad.mit.edu	37	chr7	41730044	41730044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtcctgttggccttgGggacttttaggaagagccag	14	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:41730044G>T	uc003thq.2	-	2	720	c.485C>A	c.(484-486)CCC>CAC	p.P162H	INHBA_uc003thr.2_Missense_Mutation_p.P162H	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	162					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			lung(5)|ovary(1)	6						GTTGGCCTTGGGGACTTTTAG	0.582										TSP Lung(11;0.080)			T	41730044	G	T	41730044	3	4	257	1	0	0	0	0	1	0	0	0	7741	1232	43	5	799	5	INHBA	7	41730044	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1692857	41730044	117408619	675	127607											
INHBA	3624	broad.mit.edu	37	chr7	41739728	41739728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgatcgcgttcagaagcGccgccttgggtaccggctgg	14	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:41739728G>A	uc003thq.2	-	1	480	c.245C>T	c.(244-246)GCG>GTG	p.A82V	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.A82V|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	82					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			lung(5)|ovary(1)	6						GTTCAGAAGCGCCGCCTTGGG	0.517										TSP Lung(11;0.080)			A	41739728	G	A	41739728	3	1	257	1	0	0	0	0	1	0	0	0	7741	1087	38	1	1043	1	INHBA	7	41739728	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	9684	41739728	117398935	676	127608											
GLI3	2737	broad.mit.edu	37	chr7	42005606	42005606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaggctgctgaagcgcGgcacacgaggcagggccagg	18	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:42005606G>A	uc011kbh.1	-	15	3156	c.3065C>T	c.(3064-3066)CCG>CTG	p.P1022L	GLI3_uc011kbg.1_Missense_Mutation_p.P963L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1022					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCTGAAGCGCGGCACACGAGG	0.736									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005606	G	A	42005606	3	1	257	1	0	0	0	0	1	0	0	0	6439	1116	39	1	1681	1	GLI3	7	42005606	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	265878	42005606	117133057	677	127609											
GLI3	2737	broad.mit.edu	37	chr7	42063103	42063103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtcgaactccctcgcGcagccttcccagtggcagtt	12	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:42063103G>A	uc011kbh.1	-	10	1552	c.1461C>T	c.(1459-1461)TGC>TGT	p.C487C	GLI3_uc011kbg.1_Silent_p.C428C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	487	C2H2-type 1.				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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ACTCCCTCGCGCAGCCTTCCC	0.532									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42063103	G	A	42063103	2	1	257	1	0	0	0	0	0	0	0	1	6439	1079	38	1		1	GLI3	7	42063103	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	57497	42063103	117075560	678	127610											
DBNL	28988	broad.mit.edu	37	chr7	44099737	44099737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtgcccgtgccctgTacgactaccaggcaggtaag	13	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:44099737T>C	uc003tjp.3	+	12	1236	c.1138T>C	c.(1138-1140)TAC>CAC	p.Y380H	DBNL_uc003tjo.3_Missense_Mutation_p.Y381H|DBNL_uc003tjr.3_Missense_Mutation_p.Y253H|DBNL_uc003tjq.3_Missense_Mutation_p.Y389H|DBNL_uc011kbm.1_Missense_Mutation_p.Y356H|DBNL_uc011kbn.1_Missense_Mutation_p.Y277H|DBNL_uc011kbo.1_Missense_Mutation_p.Y281H|DBNL_uc011kbp.1_Missense_Mutation_p.Y332H|DBNL_uc011kbq.1_Missense_Mutation_p.Y305H|DBNL_uc011kbr.1_Missense_Mutation_p.Y329H|DBNL_uc011kbs.1_Missense_Mutation_p.Y285H	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	380	SH3.				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			skin(1)	1						CCGTGCCCTGTACGACTACCA	0.622													C	44099737	T	C	44099737	3	2	257	1	0	0	0	0	1	0	0	0	4255	1638	57	3	1211	3	DBNL	7	44099737	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2036634	44099737	115038926	679	127611											
AEBP1	165	broad.mit.edu	37	chr7	44152379	44152379	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccacgccatcttccggTggcttgccatctccttcgcc	8	18	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:44152379T>C	uc003tkb.2	+	18	2745	c.2440T>C	c.(2440-2442)TGG>CGG	p.W814R	AEBP1_uc003tkc.3_Missense_Mutation_p.W389R|AEBP1_uc003tkd.2_Missense_Mutation_p.W64R	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	814	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				0						CATCTTCCGGTGGCTTGCCAT	0.677													C	44152379	T	C	44152379	3	2	257	1	0	0	0	0	1	0	0	0	349	1696	59	3	2510	3	AEBP1	7	44152379	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	52642	44152379	114986284	680	127612											
POLD2	5425	broad.mit.edu	37	chr7	44155802	44155802	+	Frame_Shift_Del	DEL	G	G	-													cgggaacatgcaggggtggaGgggctgctgggggagcgtgt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:44155801_44155801AG>A	uc010kxz.3	-	8	1582	c.932_932CT>T	c.(931-933)ctcfs	p.L311fs	POLD2_uc010kya.3_Frame_Shift_Del_p.L311fs|POLD2_uc003tkf.4_Frame_Shift_Del_p.L311fs	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	311					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCAGGGGTGGAGGGGCTGCTG	0.632													-	44155802	G	-	44155802	7	5	257	1	0	1	0	1	0	0	0	0	12191	1000	35	0	494	0	POLD2	7	44155802	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	3423	44155802	114982861	681	127613											
TBRG4	9238	broad.mit.edu	37	chr7	45141593	45141593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggggacccgagtactcGgggtactccagcagggcagt	16	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:45141593G>A	uc003tmv.2	-	8	1524	c.1398C>T	c.(1396-1398)CCC>CCT	p.P466P	TBRG4_uc003tmu.2_Silent_p.P291P|TBRG4_uc003tmw.2_Silent_p.P356P|TBRG4_uc003tmx.2_Silent_p.P356P|TBRG4_uc011kcd.1_Silent_p.P477P	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	466					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						CCGAGTACTCGGGGTACTCCA	0.612													A	45141593	G	A	45141593	2	1	257	1	0	0	0	0	0	0	0	1	15646	1103	39	1		1	TBRG4	7	45141593	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	985791	45141593	113997070	682	127614											
TNS3	64759	broad.mit.edu	37	chr7	47385878	47385878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttggagaagggcagctgCcccccagcatcgttgtcgta	12	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:47385878C>T	uc003tnv.2	-	18	2725	c.2358G>A	c.(2356-2358)GGG>GGA	p.G786G	TNS3_uc003tnw.2_Silent_p.G786G	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	786						focal adhesion	protein binding			ovary(4)	4						AGGGCAGCTGCCCCCCAGCAT	0.602													T	47385878	C	T	47385878	2	4	257	1	0	0	0	0	0	0	0	1	16341	726	26	2		2	TNS3	7	47385878	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2244285	47385878	111752785	683	127615											
PKD1L1	168507	broad.mit.edu	37	chr7	47920397	47920397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgtcactgtctgttctGtaatacctgcagaaaagaca	8	8	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:47920397G>A	uc003tny.1	-	21	3449	c.3449C>T	c.(3448-3450)ACA>ATA	p.T1150I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1150	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TGTCTGTTCTGTAATACCTGC	0.468													A	47920397	G	A	47920397	3	1	257	1	0	0	0	0	1	0	0	0	11964	1377	48	4	5248	4	PKD1L1	7	47920397	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	534519	47920397	111218266	684	127616											
UPP1	7378	broad.mit.edu	37	chr7	48142893	48142893	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtttctccctggttccaGcatggtatgggcattccttc	11	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48142893G>A	uc003toj.2	+	7	851	c.322_splice	c.e7-1	p.H108_splice	UPP1_uc003tok.2_Splice_Site_p.H108_splice|UPP1_uc003tol.2_Splice_Site_p.H108_splice|UPP1_uc011kcg.1_Splice_Site_p.H108_splice|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1						nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0						CCTGGTTCCAGCATGGTATGG	0.453													A	48142893	G	A	48142893	5	1	257	1	0	0	0	0	0	0	1	0	17009	985	34	2	335	2	UPP1	7	48142893	Splice_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08	222496	48142893	110995770	685	127617											
ABCA13	154664	broad.mit.edu	37	chr7	48314041	48314041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaggatgtaaacagtgTaggcaattccatttatcact	8	6	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48314041T>C	uc003toq.2	+	17	4803	c.4778T>C	c.(4777-4779)GTA>GCA	p.V1593A	ABCA13_uc010kyr.2_Missense_Mutation_p.V1096A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1593					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTAAACAGTGTAGGCAATTCC	0.323													C	48314041	T	C	48314041	3	2	257	1	0	0	0	0	1	0	0	0	31	1638	57	3	4673	3	ABCA13	7	48314041	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	171148	48314041	110824622	686	127618											
ABCA13	154664	broad.mit.edu	37	chr7	48317774	48317774	+	Frame_Shift_Del	DEL	T	T	-													acaagacagattgatgaacaTtttttcaagtttaaaggaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48317774delT	uc003toq.2	+	18	7008	c.6983delT	c.(6982-6984)ATTfs	p.I2328fs		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2328					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTGATGAACATTTTTTCAAGT	0.274													-	48317774	T	-	48317774	7	5	257	1	0	1	0	1	0	0	0	0	31	1493	52	0	6882	0	ABCA13	7	48317774	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	3733	48317774	110820889	687	127619											
ABCA13	154664	broad.mit.edu	37	chr7	48563962	48563962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgttatacaaccttAgtaaacattatcgacgcttt	5	8	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48563962A>G	uc003toq.2	+	54	14195	c.14170A>G	c.(14170-14172)AGT>GGT	p.S4724G	ABCA13_uc010kys.1_Missense_Mutation_p.S1799G|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.S454G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4724	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATACAACCTTAGTAAACATTA	0.353													G	48563962	A	G	48563962	3	3	257	1	0	0	0	0	1	0	0	0	31	420	15	3	14213	3	ABCA13	7	48563962	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	246188	48563962	110574701	688	127620											
FIGNL1	63979	broad.mit.edu	37	chr7	50513124	50513124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagcagtttgtaaactgCgaataggaccaagagaagcc	11	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:50513124C>T	uc003tpc.2	-	4	2239	c.1862G>A	c.(1861-1863)CGC>CAC	p.R621H	FIGNL1_uc003tpb.2_Missense_Mutation_p.R510H|FIGNL1_uc003tpd.2_Missense_Mutation_p.R621H|FIGNL1_uc003tpe.2_Missense_Mutation_p.R621H|FIGNL1_uc010kyy.2_Missense_Mutation_p.R621H	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	621					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGTAAACTGCGAATAGGACC	0.433													T	50513124	C	T	50513124	3	4	257	1	0	0	0	0	1	0	0	0	5892	768	27	1	166	1	FIGNL1	7	50513124	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1949162	50513124	108625539	689	127621											
SBDS	51119	broad.mit.edu	37	chr7	66458338	66458338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaatagttgcaatgtcccTaaacatctgctccagttgtg	7	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:66458338T>C	uc003tvm.1	-	3	509	c.325A>G	c.(325-327)AGG>GGG	p.R109G		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	109					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			ovary(1)	1						GCAATGTCCCTAAACATCTGC	0.378			Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				C	66458338	T	C	66458338	3	2	257	1	0	0	0	0	1	0	0	0	13857	1521	53	3	439	3	SBDS	7	66458338	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	15945214	66458338	92680325	690	127622											
AUTS2	26053	broad.mit.edu	37	chr7	70255416	70255416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccactgggaccccatcCgggaccccttgagggatcct	10	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:70255416C>T	uc003tvw.3	+	19	3957	c.3214C>T	c.(3214-3216)CGG>TGG	p.R1072W	AUTS2_uc003tvx.3_Missense_Mutation_p.R1048W|AUTS2_uc011keg.1_Missense_Mutation_p.R524W	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1072										ovary(2)|central_nervous_system(1)	3		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)		GGACCCCATCCGGGACCCCTT	0.637													T	70255416	C	T	70255416	3	4	257	1	0	0	0	0	1	0	0	0	1225	643	23	1	3433	1	AUTS2	7	70255416	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3797078	70255416	88883247	691	127623											
AUTS2	26053	broad.mit.edu	37	chr7	70255803	70255803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccgcatcagccccaccGcgggcaaccagaacggactc	9	19	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:70255803G>A	uc003tvw.3	+	19	4344	c.3601G>A	c.(3601-3603)GCG>ACG	p.A1201T	AUTS2_uc003tvx.3_Missense_Mutation_p.A1177T|AUTS2_uc011keg.1_Missense_Mutation_p.A653T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1201										ovary(2)|central_nervous_system(1)	3		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)		CAGCCCCACCGCGGGCAACCA	0.706													A	70255803	G	A	70255803	3	1	257	1	0	0	0	0	1	0	0	0	1225	1087	38	1	3820	1	AUTS2	7	70255803	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	387	70255803	88882860	692	127624											
SRCRB4D	136853	broad.mit.edu	37	chr7	76033720	76033720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccagcgcttctcatccaGctggggaccaattagcatct	8	16	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:76033720G>T	uc003ufb.2	-	2	385	c.37C>A	c.(37-39)CTG>ATG	p.L13M	ZP3_uc003ufc.3_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	13						extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						TTCTCATCCAGCTGGGGACCA	0.577													T	76033720	G	T	76033720	3	4	257	1	0	0	0	0	1	0	0	0	15136	962	34	5	1730	5	SRCRB4D	7	76033720	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5777917	76033720	83104943	693	127625											
CACNA2D1	781	broad.mit.edu	37	chr7	81637062	81637062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagttccagtaatgacaAgtcccagttcctaaaaatag	8	8	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:81637062A>G	uc003uhr.1	-	16	1629	c.1373T>C	c.(1372-1374)CTT>CCT	p.L458P	uc003uhs.1_5'Flank	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	458	Extracellular (Potential).|Cache.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGTAATGACAAGTCCCAGTTC	0.308													G	81637062	A	G	81637062	3	3	257	1	0	0	0	0	1	0	0	0	2548	72	3	3	1998	3	CACNA2D1	7	81637062	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5603342	81637062	77501601	694	127626											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542523	+	Splice_Site	DEL	A	A	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						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)					CCGTCTATTCTAAAAAAAAGA	0.413													-	86542523	A	-	86542523	8	5	257	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	A	TCGA-HU-8602-01A-11D-2394-08	4905461	86542523	72596140	695	127627											
CROT	54677	broad.mit.edu	37	chr7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-													ccttcacttgaagaatcattAaaaaaataccttgaatcagg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:86978479_86978479TA>T	uc003uiu.3	+	2	340	c.95_95TA>T	c.(94-96)ttafs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uit.3_Frame_Shift_Del_p.L32fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAGAATCATTAAAAAAATAC	0.318													-	86978480	A	-	86978480	7	5	257	1	0	1	0	1	0	0	0	0	3894	359	13	0	98	0	CROT	7	86978480	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	435957	86978480	72160183	696	127628											
ANKIB1	54467	broad.mit.edu	37	chr7	92021605	92021605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaggatttgcatcaccagAggtaattgttttatggggtt	11	4	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:92021605A>G	uc003ulw.2	+	17	2658	c.2282A>G	c.(2281-2283)GAG>GGG	p.E761G	ANKIB1_uc010lew.1_Intron	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	761							protein binding|zinc ion binding			lung(1)	1	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)			GCATCACCAGAGGTAATTGTT	0.333													G	92021605	A	G	92021605	3	3	257	1	0	0	0	0	1	0	0	0	630	318	11	3	2344	3	ANKIB1	7	92021605	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5043125	92021605	67117058	697	127629											
SAMD9L	219285	broad.mit.edu	37	chr7	92761061	92761062	+	Frame_Shift_Ins	INS	-	-	T													gcaagacctctcggagttgtINSttttttagcgtggtaagtgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:92761060_92761061G>GT	uc003umh.1	-	4	5440_5441	c.4224_4225C>AC	c.(4222-4227)aaacaafs	p.K1408fs	SAMD9L_uc003umj.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umi.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfb.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umk.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfc.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfd.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc022ahh.1_Frame_Shift_Ins_p.K1408fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1408										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)			TCTCGGAGTTGTTTTTTTAGCG	0.406													T	92761062	-	T	92761061	7	5	257	1	0	1	1	0	0	0	0	0	13827	1722	60	0	534	0	SAMD9L	7	92761061	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	739456	92761061	66377602	698	127630											
GNGT1	2792	broad.mit.edu	37	chr7	93540134	93540134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagaagtaagagattaCgttgaagaacgatctggcga	13	4	1	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:93540134C>T	uc003unc.1	+	3	277	c.129C>T	c.(127-129)TAC>TAT	p.Y43Y	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	43					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TAAGAGATTACGTTGAAGAAC	0.418													T	93540134	C	T	93540134	2	4	257	1	0	0	0	0	0	0	0	1	6533	547	19	1		1	GNGT1	7	93540134	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	779073	93540134	65598529	699	127631											
CASD1	64921	broad.mit.edu	37	chr7	94168352	94168352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattttgatttatcacaTttctggagcaagtacagtaa	8	5	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:94168352T>C	uc003uni.3	+	10	1567	c.1340T>C	c.(1339-1341)ATT>ACT	p.I447T	CASD1_uc003unj.3_Missense_Mutation_p.I447T	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	447	Helical; (Potential).					integral to membrane				ovary(2)	2	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)			ATTTATCACATTTCTGGAGCA	0.328													C	94168352	T	C	94168352	3	2	257	1	0	0	0	0	1	0	0	0	2664	1493	52	3	1378	3	CASD1	7	94168352	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	628218	94168352	64970311	700	127632											
CASD1	64921	broad.mit.edu	37	chr7	94168365	94168365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcacatttctggagcaagTacagtaagtatttggaattt	8	5	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:94168365T>C	uc003uni.3	+	10	1580	c.1353T>C	c.(1351-1353)AGT>AGC	p.S451S	CASD1_uc003unj.3_Silent_p.S451S	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	451	Helical; (Potential).					integral to membrane				ovary(2)	2	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)			CTGGAGCAAGTACAGTAAGTA	0.328													C	94168365	T	C	94168365	2	2	257	1	0	0	0	0	0	0	0	1	2664	1635	57	3		3	CASD1	7	94168365	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	13	94168365	64970298	701	127633											
PON3	5446	broad.mit.edu	37	chr7	95019491	95019491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agataaaagccagcccactaGgaagtatatcaatatcttca	6	9	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:95019491G>T	uc003unt.2	-	3	201	c.176C>A	c.(175-177)CCT>CAT	p.P59H	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.P59H	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	59				LP -> FL (in Ref. 1; AAK07629).	aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CAGCCCACTAGGAAGTATATC	0.398													T	95019491	G	T	95019491	3	4	257	1	0	0	0	0	1	0	0	0	12250	1000	35	5	916	5	PON3	7	95019491	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	851126	95019491	64119172	702	127634											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129068	99129068	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatcaaagaatacacacTggggagaaaccattcaggtg	9	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99129068T>C	uc003uqv.2	+	7	1840	c.1716T>C	c.(1714-1716)ACT>ACC	p.T572T	ZKSCAN5_uc010lfx.2_Silent_p.T572T|ZKSCAN5_uc003uqw.2_Silent_p.T572T|ZKSCAN5_uc003uqx.2_Silent_p.T499T|ZKSCAN5_uc003uqy.2_Silent_p.T308T	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	572					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)					GAATACACACTGGGGAGAAAC	0.463													C	99129068	T	C	99129068	2	2	257	1	0	0	0	0	0	0	0	1	17687	1567	55	3		3	ZKSCAN5	7	99129068	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4109577	99129068	60009595	703	127635											
ZSCAN21	7589	broad.mit.edu	37	chr7	99655395	99655395	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaactgcaaaggaatccccGagcagcatgcagccacagcc	11	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99655395G>A	uc003uso.2	+	3	618	c.474G>A	c.(472-474)CCG>CCA	p.P158P	ZSCAN21_uc003usn.1_Silent_p.P157P	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	158					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAATCCCCGAGCAGCATGC	0.537													A	99655395	G	A	99655395	2	1	257	1	0	0	0	0	0	0	0	1	18230	1045	37	1		1	ZSCAN21	7	99655395	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	526327	99655395	59483268	704	127636											
TAF6	6878	broad.mit.edu	37	chr7	99709732	99709732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggtggggccctcaccGccctcttggcctcgcaggag	14	15	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99709732G>A	uc003uti.2	-	7	800	c.719C>T	c.(718-720)GCG>GTG	p.A240V	TAF6_uc003utg.2_Missense_Mutation_p.A162V|TAF6_uc003uth.2_Missense_Mutation_p.A297V|TAF6_uc003utk.2_Missense_Mutation_p.A240V|TAF6_uc011kji.1_Missense_Mutation_p.A277V|TAF6_uc003utj.2_Missense_Mutation_p.A230V|TAF6_uc003utl.2_Missense_Mutation_p.A240V|TAF6_uc003utm.2_Missense_Mutation_p.A240V|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	240					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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCCTCACCGCCCTCTTGGC	0.657													A	99709732	G	A	99709732	3	1	257	1	0	0	0	0	1	0	0	0	15527	1101	38	1	1350	1	TAF6	7	99709732	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	54337	99709732	59428931	705	127637											
C7orf43	55262	broad.mit.edu	37	chr7	99754145	99754145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcggtcatcacaaaacaCgggcggtccaagcggacact	12	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99754145C>T	uc003utr.2	-	8	1284	c.1104G>A	c.(1102-1104)CCG>CCA	p.P368P	C7orf43_uc010lgo.2_Translation_Start_Site|C7orf43_uc010lgp.2_Translation_Start_Site|C7orf43_uc011kjj.1_Silent_p.P136P|C7orf43_uc003uts.2_Silent_p.P99P	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	368											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCACAAAACACGGGCGGTCCA	0.562													T	99754145	C	T	99754145	2	4	257	1	0	0	0	0	0	0	0	1	2393	523	19	1		1	C7orf43	7	99754145	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	44413	99754145	59384518	706	127638											
VGF	7425	broad.mit.edu	37	chr7	100806796	100806796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcggatccatctcctcgtcGtcctcctcctccccgccctc	6	22	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:100806796G>C	uc003uxx.3	-	2	1547	c.1329C>G	c.(1327-1329)GAC>GAG	p.D443E		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	443	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tctcctcgtcgtcctcctcct	0.483													C	100806796	G	C	100806796	3	2	257	1	0	0	0	0	1	0	0	0	17154	1136	40	5	522	5	VGF	7	100806796	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1052651	100806796	58331867	707	127639											
ZNHIT1	10467	broad.mit.edu	37	chr7	100866015	100866015	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgcgggactccctcagctCggcaagagactgcctcagtt	11	15	2	1	rs142012618	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:100866015C>T	uc003uye.2	+	2	645	c.153C>T	c.(151-153)CTC>CTT	p.L51L	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	51							metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCTCAGCTCGGCAAGAGAC	0.657													T	100866015	C	T	100866015	2	4	257	1	0	0	0	0	0	0	0	1	18203	871	31	1		1	ZNHIT1	7	100866015	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	59219	100866015	58272648	708	127640											
CUX1	1523	broad.mit.edu	37	chr7	101821799	101821799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctagaagttgagttggcCgccaaggagcgggagatcgc	16	9	0	3	rs139114802		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:101821799C>T	uc003uyx.3	+	11	917	c.879C>T	c.(877-879)GCC>GCT	p.A293A	CUX1_uc003uys.3_Silent_p.A304A|CUX1_uc003uyt.2_Silent_p.A304A|CUX1_uc011kkn.1_Silent_p.A265A|CUX1_uc003uyw.2_Silent_p.A258A|CUX1_uc003uyv.2_Silent_p.A288A|CUX1_uc003uyu.2_Silent_p.A302A	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	293	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TTGAGTTGGCCGCCAAGGAGC	0.617													T	101821799	C	T	101821799	2	4	257	1	0	0	0	0	0	0	0	1	4064	639	23	1		1	CUX1	7	101821799	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	955784	101821799	57316864	709	127641											
MLL5	55904	broad.mit.edu	37	chr7	104747115	104747115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttttgccacgcctccaCggataaaatcagatgatgaa	7	11	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:104747115C>T	uc003vcm.2	+	20	3277	c.2743C>T	c.(2743-2745)CGG>TGG	p.R915W	MLL5_uc010ljc.2_Missense_Mutation_p.R915W|MLL5_uc010lje.1_Intron|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	915					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CACGCCTCCACGGATAAAATC	0.443													T	104747115	C	T	104747115	3	4	257	1	0	0	0	0	1	0	0	0	9624	527	19	1	2813	1	MLL5	7	104747115	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2925316	104747115	54391548	710	127642											
LAMB4	22798	broad.mit.edu	37	chr7	107671340	107671340	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcctttgcaacttggtctGcagcagggaaagtccatcct	10	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:107671340G>A	uc010ljo.1	-	32	4987	c.4903C>T	c.(4903-4905)CAG>TAG	p.Q1635*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q1635*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.Q604*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1635	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						AACTTGGTCTGCAGCAGGGAA	0.488													A	107671340	G	A	107671340	4	1	257	1	0	0	0	0	0	1	0	0	8613	1328	46	2	394	2	LAMB4	7	107671340	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2924225	107671340	51467323	711	127643											
MET	4233	broad.mit.edu	37	chr7	116397718	116397718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaataacaagtatttcgccGaaatacggtcctatggctgg	10	8	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:116397718G>A	uc003vij.2	+	8	2179	c.1992G>A	c.(1990-1992)CCG>CCA	p.P664P	MET_uc010lkh.2_Silent_p.P664P|MET_uc011kne.1_Silent_p.P636P|MET_uc011knf.1_Silent_p.P664P|MET_uc011kng.1_Silent_p.P664P|MET_uc011knh.1_Silent_p.P664P|MET_uc011kni.1_Silent_p.P664P|MET_uc011knj.1_Silent_p.P234P	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	664	Extracellular (Potential).|IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	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)			GTATTTCGCCGAAATACGGTC	0.333			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				A	116397718	G	A	116397718	2	1	257	1	0	0	0	0	0	0	0	1	9485	1045	37	1		1	MET	7	116397718	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	8726378	116397718	42740945	712	127644											
MET	4233	broad.mit.edu	37	chr7	116422111	116422111	+	Frame_Shift_Del	DEL	A	A	-													gcatgaaatatcttgcaagcAaaaagtttgtccacagagac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:116422110_116422110CA>C	uc003vij.3	+	17	3778	c.3591_3591CA>C	c.(3589-3591)agcfs	p.S1197fs	MET_uc010lkh.3_Frame_Shift_Del_p.S1215fs|MET_uc011knj.2_Frame_Shift_Del_p.S767fs	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1197	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCTTGCAAGCAAAAAGTTTG	0.383			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				-	116422111	A	-	116422111	7	5	257	1	0	1	0	1	0	0	0	0	9485	131	5	0	3712	0	MET	7	116422111	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	24393	116422111	42716552	713	127645											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650506	121650506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccacaacacactacaatcGcatagggacgaaatacaatg	6	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:121650506G>A	uc003vjy.2	+	12	1801	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PTPRZ1_uc003vjz.2_Missense_Mutation_p.R469H|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	469	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CACTACAATCGCATAGGGACG	0.428													A	121650506	G	A	121650506	3	1	257	1	0	0	0	0	1	0	0	0	12814	1087	38	1	1452	1	PTPRZ1	7	121650506	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5228395	121650506	37488157	714	127646											
GRM8	2918	broad.mit.edu	37	chr7	126173278	126173278	+	Frame_Shift_Del	DEL	G	G	-													tccatagtcaatgatgatgtGggggggatccacaacaaacc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:126173277_126173277TG>T	uc003vlr.2	-	7	2470	c.2159_2159CA>A	c.(2158-2160)cacfs	p.H720fs	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Frame_Shift_Del_p.H720fs|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	720					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)	AATGATGATGTGGGGGGGATC	0.502										HNSCC(24;0.065)			-	126173278	G	-	126173278	7	5	257	1	0	1	0	1	0	0	0	0	6803	1348	47	0	630	0	GRM8	7	126173278	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	4522772	126173278	32965385	715	127647											
GCC1	79571	broad.mit.edu	37	chr7	127225103	127225103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcctctttctccttcagcAggcttttataggcacggacc	8	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:127225103A>G	uc003vma.2	-	1	552	c.134T>C	c.(133-135)CTG>CCG	p.L45P		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	45	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CTCCTTCAGCAGGCTTTTATA	0.567											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	127225103	A	G	127225103	3	3	257	1	0	0	0	0	1	0	0	0	6285	188	7	3	2201	3	GCC1	7	127225103	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1051825	127225103	31913560	716	127648											
LEP	3952	broad.mit.edu	37	chr7	127894749	127894749	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctactccacagaggtggtggCcctgagcaggctgcaggggt	16	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:127894749C>G	uc003vml.2	+	3	494	c.437C>G	c.(436-438)GCC>GGC	p.A146G	LEP_uc003vmm.2_Missense_Mutation_p.A145G	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	146					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0						GAGGTGGTGGCCCTGAGCAGG	0.622													G	127894749	C	G	127894749	3	3	257	1	0	0	0	0	1	0	0	0	8727	739	26	5	443	5	LEP	7	127894749	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	669646	127894749	31243914	717	127649											
FLNC	2318	broad.mit.edu	37	chr7	128493526	128493526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctttcccccaggttAtgggggcttggggctgagta	14	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:128493526A>G	uc003vnz.3	+	38	6421	c.6212A>G	c.(6211-6213)TAT>TGT	p.Y2071C	FLNC_uc003voa.3_Missense_Mutation_p.Y2038C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2071	Filamin 19.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCCCCAGGTTATGGGGGCTTG	0.577													G	128493526	A	G	128493526	3	3	257	1	0	0	0	0	1	0	0	0	5935	449	16	3	6362	3	FLNC	7	128493526	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	598777	128493526	30645137	718	127650											
ZC3HC1	51530	broad.mit.edu	37	chr7	129662199	129662199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctagactgtttgtgcGccaagaggatggtcagcact	14	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:129662199G>A	uc003vpi.2	-	9	1427	c.1400C>T	c.(1399-1401)GCG>GTG	p.A467V	ZC3HC1_uc003vph.2_Missense_Mutation_p.A311V|ZC3HC1_uc010lma.2_Missense_Mutation_p.A283V	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	467					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					CTGTTTGTGCGCCAAGAGGAT	0.562													A	129662199	G	A	129662199	3	1	257	1	0	0	0	0	1	0	0	0	17574	1087	38	1	116	1	ZC3HC1	7	129662199	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1168673	129662199	29476464	719	127651											
CPA5	93979	broad.mit.edu	37	chr7	130007750	130007750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaatgtcatcttgcagtacGatcttgccaaggatgcggtg	11	10	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:130007750G>A	uc010lmd.1	+	13	1662	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N	CPA5_uc003vps.2_Missense_Mutation_p.D348N|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.D348N|CPA5_uc003vpu.1_Missense_Mutation_p.D348N|uc003vpv.1_RNA	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	348					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					CTTGCAGTACGATCTTGCCAA	0.582													A	130007750	G	A	130007750	3	1	257	1	0	0	0	0	1	0	0	0	3793	1058	37	1	1080	1	CPA5	7	130007750	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	345551	130007750	29130913	720	127652											
AKR1B10	57016	broad.mit.edu	37	chr7	134225823	134225823	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatttggaagactatccCttcaatgcagaatattgagg	8	8	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:134225823C>A	uc003vrr.2	+	10	1253	c.933C>A	c.(931-933)CCC>CCA	p.P311P		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	311					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						AAGACTATCCCTTCAATGCAG	0.398													A	134225823	C	A	134225823	2	1	257	1	0	0	0	0	0	0	0	1	467	668	24	5		5	AKR1B10	7	134225823	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4218073	134225823	24912840	721	127653											
HIPK2	28996	broad.mit.edu	37	chr7	139268706	139268706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcattgttgtgcccagcaCgctgctgcacggagtagggg	16	10	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:139268706C>T	uc003vvf.3	-	13	2996	c.2822G>A	c.(2821-2823)CGT>CAT	p.R941H	HIPK2_uc003vvd.3_Missense_Mutation_p.R914H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	941	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with AXIN1 (By similarity).				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	p.R941H(1)		ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GTGCCCAGCACGCTGCTGCAC	0.577													T	139268706	C	T	139268706	3	4	257	1	0	0	0	0	1	0	0	0	7117	536	19	1	786	1	HIPK2	7	139268706	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5042883	139268706	19869957	722	127654											
DENND2A	27147	broad.mit.edu	37	chr7	140301369	140301369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctttgtccccttctcCggcatgtttgaacgttctcc	6	16	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:140301369C>T	uc010lnj.2	-	1	974	c.829G>A	c.(829-831)GGA>AGA	p.G277R	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G277R|DENND2A_uc003vvw.2_Missense_Mutation_p.G277R|DENND2A_uc003vvx.2_Missense_Mutation_p.G277R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	277										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TCCCCTTCTCCGGCATGTTTG	0.438													T	140301369	C	T	140301369	3	4	257	1	0	0	0	0	1	0	0	0	4429	661	23	1	2272	1	DENND2A	7	140301369	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1032663	140301369	18837294	723	127655											
MGAM	8972	broad.mit.edu	37	chr7	141739966	141739966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctgtctggtatgactacGagactgtaagtagctttgac	11	7	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:141739966G>A	uc003vwy.2	+	20	2422	c.2368G>A	c.(2368-2370)GAG>AAG	p.E790K		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	790	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTATGACTACGAGACTGTAAG	0.418													A	141739966	G	A	141739966	3	1	257	1	0	0	0	0	1	0	0	0	9541	1059	37	1	2442	1	MGAM	7	141739966	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1438597	141739966	17398697	724	127656											
MGAM	8972	broad.mit.edu	37	chr7	141752641	141752641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgacctatactctgtcAgtgatgttcagtataattcc	6	10	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:141752641A>G	uc003vwy.2	+	26	3070	c.3016A>G	c.(3016-3018)AGT>GGT	p.S1006G		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1006	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACTCTGTCAGTGATGTTCA	0.473													G	141752641	A	G	141752641	3	3	257	1	0	0	0	0	1	0	0	0	9541	188	7	3	3114	3	MGAM	7	141752641	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	12675	141752641	17386022	725	127657											
FAM131B	9715	broad.mit.edu	37	chr7	143054384	143054384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctcaccctgactgtccAtcagttcctggtagttgtca	7	13	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:143054384A>G	uc003wct.2	-	5	2221	c.515T>C	c.(514-516)ATG>ACG	p.M172T	FAM131B_uc010loz.2_Missense_Mutation_p.M140T|FAM131B_uc003wcu.3_Missense_Mutation_p.M172T|FAM131B_uc010lpa.2_Missense_Mutation_p.M200T	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	172											0	Melanoma(164;0.205)					CTGACTGTCCATCAGTTCCTG	0.522													G	143054384	A	G	143054384	3	3	257	1	0	0	0	0	1	0	0	0	5440	217	8	3	491	3	FAM131B	7	143054384	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1301743	143054384	16084279	726	127658											
ZYX	7791	broad.mit.edu	37	chr7	143079937	143079937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtggccactccattcaGttccaagtccagtaccaagc	7	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:143079937G>A	uc003wcw.2	+	5	700	c.545G>A	c.(544-546)AGT>AAT	p.S182N	ZYX_uc011ktd.1_Missense_Mutation_p.S25N|ZYX_uc003wcx.2_Missense_Mutation_p.S182N|ZYX_uc011kte.1_Missense_Mutation_p.S151N|ZYX_uc011ktf.1_Missense_Mutation_p.S25N	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	182					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					ACTCCATTCAGTTCCAAGTCC	0.622													A	143079937	G	A	143079937	3	1	257	1	0	0	0	0	1	0	0	0	18251	1029	36	4	559	4	ZYX	7	143079937	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	25553	143079937	16058726	727	127659											
OR6B1	135946	broad.mit.edu	37	chr7	143701249	143701249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggtgctgcaaaatcggCcactgcacaagcctatgtac	9	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:143701249C>T	uc003wdt.1	+	1	160	c.160C>T	c.(160-162)CCA>TCA	p.P54S		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					GCAAAATCGGCCACTGCACAA	0.473													T	143701249	C	T	143701249	3	4	257	1	0	0	0	0	1	0	0	0	11187	739	26	2	162	2	OR6B1	7	143701249	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	621312	143701249	15437414	728	127660											
ZNF212	7988	broad.mit.edu	37	chr7	148947624	148947624	+	Frame_Shift_Del	DEL	G	G	-													cggctgcccccgggcagcaaGggggaggcccccaaggtagt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:148947623_148947623AG>A	uc003wfp.3	+	1	526	c.398_398AG>A	c.(397-399)aagfs	p.K133fs		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CCGGGCAGCAAGGGGGAGGCC	0.567													-	148947624	G	-	148947624	7	5	257	1	0	1	0	1	0	0	0	0	17765	991	35	0	405	0	ZNF212	7	148947624	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	5246375	148947624	10191039	729	127661											
GIMAP7	168537	broad.mit.edu	37	chr7	150217889	150217889	+	Frame_Shift_Del	DEL	T	T	-													gagaaatatatttaaagatgTttttaataggatttggaaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:150217889delT	uc003whk.2	+	2	957	c.827delT	c.(826-828)GTTfs	p.V276fs		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	276							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTAAAGATGTTTTTAATAGG	0.239													-	150217889	T	-	150217889	7	5	257	1	0	1	0	1	0	0	0	0	6384	1725	60	0	829	0	GIMAP7	7	150217889	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1270265	150217889	8920774	730	127662											
KCNH2	3757	broad.mit.edu	37	chr7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-													cctggggccagccagctggtGggggggccccggtggttggt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:150656678_150656678TG>T	uc003wic.3	-	2	855	c.454_454CA>A	c.(454-456)accfs	p.T152fs	KCNH2_uc011kux.2_Frame_Shift_Del_p.T56fs|KCNH2_uc003wie.3_Frame_Shift_Del_p.T152fs	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	152					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	p.T152fs*180(2)		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)	AGCCAGCTGGTGGGGGGGCCC	0.592													-	150656679	G	-	150656679	7	5	257	1	0	1	0	1	0	0	0	0	8032	1335	47	0	3459	0	KCNH2	7	150656679	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	438790	150656679	8481984	731	127663											
CHPF2	54480	broad.mit.edu	37	chr7	150932678	150932678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgactctctgggcgtcGgctgtgtctcacagcaccag	11	13	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:150932678G>A	uc003wjr.1	+	2	2321	c.808G>A	c.(808-810)GGC>AGC	p.G270S	CHPF2_uc003wjq.1_Missense_Mutation_p.G262S|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	270	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						TCTGGGCGTCGGCTGTGTCTC	0.592													A	150932678	G	A	150932678	3	1	257	1	0	0	0	0	1	0	0	0	3369	1116	39	1	814	1	CHPF2	7	150932678	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	275999	150932678	8205985	732	127664											
HTR5A	3361	broad.mit.edu	37	chr7	154863287	154863287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggaagatctacaaggcTgccaagttccgcgtgggctc	12	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:154863287T>C	uc003wlu.1	+	1	742	c.678T>C	c.(676-678)GCT>GCC	p.A226A	uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	226	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	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)		TCTACAAGGCTGCCAAGTTCC	0.552													C	154863287	T	C	154863287	2	2	257	1	0	0	0	0	0	0	0	1	7450	1567	55	3		3	HTR5A	7	154863287	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	3930609	154863287	4275376	733	127665											
DLGAP2	9228	broad.mit.edu	37	chr8	1497246	1497246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgggacggcttccacacGctgcagtaccagaggacgtc	12	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:1497246G>A	uc003wpl.2	+	2	484	c.387G>A	c.(385-387)ACG>ACA	p.T129T	DLGAP2_uc003wpm.2_Silent_p.T129T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	208					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		GCTTCCACACGCTGCAGTACC	0.687													A	1497246	G	A	1497246	2	1	257	1	0	0	0	0	0	0	0	1	4560	1074	38	1		1	DLGAP2	8	1497246	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08		1497246	144866776	734	127666											
CSMD1	64478	broad.mit.edu	37	chr8	3046521	3046521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgttgagtgaaattgCcactgcagggtactaaaaga	10	8	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:3046521C>A	uc011kwk.1	-	35	5804	c.5414G>T	c.(5413-5415)GGC>GTC	p.G1805V	CSMD1_uc011kwj.1_Missense_Mutation_p.G1197V|CSMD1_uc003wqe.2_Missense_Mutation_p.G961V|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1805	Extracellular (Potential).|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)		AGTGAAATTGCCACTGCAGGG	0.458													A	3046521	C	A	3046521	3	1	257	1	0	0	0	0	1	0	0	0	3944	739	26	5	5427	5	CSMD1	8	3046521	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1549275	3046521	143317501	735	127667											
CSMD1	64478	broad.mit.edu	37	chr8	3263662	3263662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcacagtggaaagaaaccGagctcccgagtagaaacctg	10	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:3263662G>A	uc011kwk.1	-	15	2546	c.2156C>T	c.(2155-2157)TCG>TTG	p.S719L	CSMD1_uc011kwj.1_Missense_Mutation_p.S111L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	719	Sushi 4.|Extracellular (Potential).					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)		GAAAGAAACCGAGCTCCCGAG	0.498													A	3263662	G	A	3263662	3	1	257	1	0	0	0	0	1	0	0	0	3944	1059	37	1	8765	1	CSMD1	8	3263662	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	217141	3263662	143100360	736	127668											
ANGPT2	285	broad.mit.edu	37	chr8	6366532	6366532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaatcatttcctggttgGctgatgctgcttattttgcc	8	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:6366532G>A	uc003wqj.3	-	8	1580	c.1251C>T	c.(1249-1251)AGC>AGT	p.S417S	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.S416S|ANGPT2_uc010lri.2_Silent_p.S365S|ANGPT2_uc003wql.3_Silent_p.S416S	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	417	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			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TTCCTGGTTGGCTGATGCTGC	0.408													A	6366532	G	A	6366532	2	1	257	1	0	0	0	0	0	0	0	1	611	1194	42	2		2	ANGPT2	8	6366532	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3102870	6366532	139997490	737	127669											
TNKS	8658	broad.mit.edu	37	chr8	9413606	9413606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctcccacggccagcggcCtggcccccttcgcctccccg	9	24	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:9413606C>A	uc003wss.2	+	1	162	c.157C>A	c.(157-159)CTG>ATG	p.L53M	TNKS_uc011kwv.1_Missense_Mutation_p.L53M|uc003wsr.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	53					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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GGCCAGCGGCCTGGCCCCCTT	0.791													A	9413606	C	A	9413606	3	1	257	1	0	0	0	0	1	0	0	0	16316	680	24	5	159	5	TNKS	8	9413606	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3047074	9413606	136950416	738	127670											
RP1L1	94137	broad.mit.edu	37	chr8	10465175	10465175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcctctacaccttctgActcaggctgggcctcccctt	9	17	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:10465175A>G	uc003wtc.2	-	4	6662	c.6433T>C	c.(6433-6435)TCA>CCA	p.S2145P		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2145					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ACACCTTCTGACTCAGGCTGG	0.602													G	10465175	A	G	10465175	3	3	257	1	0	0	0	0	1	0	0	0	13533	275	10	3	773	3	RP1L1	8	10465175	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1051569	10465175	135898847	739	127671											
RP1L1	94137	broad.mit.edu	37	chr8	10470245	10470245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccggtgctggaggctgGgctggcactgtcctggctgc	19	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:10470245G>A	uc003wtc.2	-	4	1592	c.1363C>T	c.(1363-1365)CCA>TCA	p.P455S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	455					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGGCTGGGCTGGCACTG	0.721													A	10470245	G	A	10470245	3	1	257	1	0	0	0	0	1	0	0	0	13533	1232	43	4	5843	4	RP1L1	8	10470245	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5070	10470245	135893777	740	127672											
DLC1	10395	broad.mit.edu	37	chr8	12957275	12957275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagttccttggggctgtcGctactgttttccctcctgag	10	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:12957275G>A	uc003wwm.2	-	9	3015	c.2571C>T	c.(2569-2571)AGC>AGT	p.S857S	DLC1_uc003wwk.1_Silent_p.S420S|DLC1_uc003wwl.1_Silent_p.S454S|DLC1_uc011kxx.1_Silent_p.S346S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	857					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGGGCTGTCGCTACTGTTTT	0.582													A	12957275	G	A	12957275	2	1	257	1	0	0	0	0	0	0	0	1	4550	1078	38	1		1	DLC1	8	12957275	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2487030	12957275	133406747	741	127673											
MTUS1	57509	broad.mit.edu	37	chr8	17611729	17611729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaggtctgggcgtgaCctttgataaagcagcatctt	12	9	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:17611729C>T	uc003wxv.2	-	2	2062	c.1588G>A	c.(1588-1590)GTC>ATC	p.V530I	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.V530I|MTUS1_uc010lsz.2_Missense_Mutation_p.V530I	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	530						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CTGGGCGTGACCTTTGATAAA	0.438													T	17611729	C	T	17611729	3	4	257	1	0	0	0	0	1	0	0	0	9965	507	18	4	2599	4	MTUS1	8	17611729	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4654454	17611729	128752293	742	127674											
PCM1	5108	broad.mit.edu	37	chr8	17823525	17823525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtggaagaacaattgccCtttttcggcagatgaaaatt	10	6	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:17823525C>T	uc003wyi.3	+	19	3295	c.2873C>T	c.(2872-2874)CCT>CTT	p.P958L	PCM1_uc011kyh.1_Missense_Mutation_p.P958L|PCM1_uc003wyj.3_Missense_Mutation_p.P959L	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	958					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)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		AACAATTGCCCTTTTTCGGCA	0.388			T	RET|JAK2	papillary thyroid|CML|MPD								T	17823525	C	T	17823525	3	4	257	1	0	0	0	0	1	0	0	0	11584	681	24	4	2939	4	PCM1	8	17823525	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	211796	17823525	128540497	743	127675											
INTS10	55174	broad.mit.edu	37	chr8	19677153	19677153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacatcagcattaaggaaCgattcacaggacaaacaaac	6	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:19677153C>T	uc003wzj.2	+	3	398	c.267C>T	c.(265-267)AAC>AAT	p.N89N		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	89					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CATTAAGGAACGATTCACAGG	0.313													T	19677153	C	T	19677153	2	4	257	1	0	0	0	0	0	0	0	1	7776	535	19	1		1	INTS10	8	19677153	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1853628	19677153	126686869	744	127676											
FAM160B2	64760	broad.mit.edu	37	chr8	21958199	21958199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcaaccttgagggccGcccttacgtggcctggggct	14	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:21958199G>A	uc011kyx.1	+	11	1487	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	479											0						CTTGAGGGCCGCCCTTACGTG	0.622													A	21958199	G	A	21958199	3	1	257	1	0	0	0	0	1	0	0	0	5471	1087	38	1	1277	1	FAM160B2	8	21958199	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2281046	21958199	124405823	745	127677											
LGI3	203190	broad.mit.edu	37	chr8	22005871	22005871	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggagaaatcactgccCagtgccaggtagcggcggcc	15	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22005871C>A	uc003xav.2	-	8	1738	c.1449G>T	c.(1447-1449)CTG>CTT	p.L483L	LGI3_uc010ltu.2_Silent_p.L459L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	483	EAR 6.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		AATCACTGCCCAGTGCCAGGT	0.652													A	22005871	C	A	22005871	2	1	257	1	0	0	0	0	0	0	0	1	8753	581	21	5		5	LGI3	8	22005871	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	47672	22005871	124358151	746	127678											
POLR3D	661	broad.mit.edu	37	chr8	22106824	22106824	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcaggagaaagaccgagTacgctcagacagaggcctgc	13	11	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22106824T>C	uc003xbl.2	+	7	1004	c.921_splice	c.e7+2	p.R307_splice	POLR3D_uc003xbm.2_Splice_Site_p.R307_splice|POLR3D_uc011kze.1_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide						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				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAAGACCGAGTACGCTCAGAC	0.602													C	22106824	T	C	22106824	5	2	257	1	0	0	0	0	0	0	1	0	12231	1652	57	3	945	3	POLR3D	8	22106824	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	100953	22106824	124257198	747	127679											
PPP3CC	5533	broad.mit.edu	37	chr8	22370819	22370819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctagttagacaggtttaCggaacctcccgcctttggac	9	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22370819C>T	uc003xbs.2	+	6	971	c.644C>T	c.(643-645)ACG>ATG	p.T215M	PPP3CC_uc003xbr.1_Missense_Mutation_p.T215M|PPP3CC_uc011kzi.1_Missense_Mutation_p.T215M|PPP3CC_uc003xbt.2_Missense_Mutation_p.T215M	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	215					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GACAGGTTTACGGAACCTCCC	0.443													T	22370819	C	T	22370819	3	4	257	1	0	0	0	0	1	0	0	0	12399	536	19	1	666	1	PPP3CC	8	22370819	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	263995	22370819	123993203	748	127680											
KIAA1967	57805	broad.mit.edu	37	chr8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-													ttcagtacctgcagccgggaCccccccggcggcttcagaca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582													-	22472975	C	-	22472975	7	5	257	1	0	1	0	1	0	0	0	0	8265	507	18	0	1285	0	KIAA1967	8	22472975	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	102156	22472975	123891047	749	127681											
RHOBTB2	23221	broad.mit.edu	37	chr8	22874896	22874896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcggcagcccaaacggCgttggctcttctggaacagt	12	12	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22874896C>T	uc003xcq.2	+	10	2635	c.2098C>T	c.(2098-2100)CGT>TGT	p.R700C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R722C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R707C|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	700					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCCCAAACGGCGTTGGCTCTT	0.448													T	22874896	C	T	22874896	3	4	257	1	0	0	0	0	1	0	0	0	13334	768	27	1	2217	1	RHOBTB2	8	22874896	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	401921	22874896	123489126	750	127682											
ENTPD4	9583	broad.mit.edu	37	chr8	23299177	23299177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcccgctgtccttttacGgacaatggcttcgctgcttt	9	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:23299177G>A	uc003xdl.2	-	8	951	c.787C>T	c.(787-789)CGT>TGT	p.R263C	ENTPD4_uc011kzu.1_Missense_Mutation_p.R263C|ENTPD4_uc003xdm.2_Missense_Mutation_p.R263C|ENTPD4_uc011kzv.1_Missense_Mutation_p.R263C	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	263	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCCTTTTACGGACAATGGCT	0.493													A	23299177	G	A	23299177	3	1	257	1	0	0	0	0	1	0	0	0	5141	1116	39	1	1087	1	ENTPD4	8	23299177	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	424281	23299177	123064845	751	127683											
NEFL	4747	broad.mit.edu	37	chr8	24811219	24811219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgccgtaggcagatcgGccaaagacctgggagctctg	13	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:24811219G>A	uc003xee.2	-	3	1362	c.1260C>T	c.(1258-1260)GGC>GGT	p.G420G		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	420	Tail.|Tail, subdomain A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGCAGATCGGCCAAAGACCT	0.577													A	24811219	G	A	24811219	2	1	257	1	0	0	0	0	0	0	0	1	10315	1190	42	2		2	NEFL	8	24811219	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1512042	24811219	121552803	752	127684											
NEFL	4747	broad.mit.edu	37	chr8	24813883	24813883	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgcacggacagcgaGgaagacaccggcgccgagta	16	13	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:24813883G>T	uc003xee.2	-	1	249	c.147C>A	c.(145-147)TCC>TCA	p.S49S		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	49	Head.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGACAGCGAGGAAGACACCG	0.657													T	24813883	G	T	24813883	2	4	257	1	0	0	0	0	0	0	0	1	10315	987	35	5		5	NEFL	8	24813883	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2664	24813883	121550139	753	127685											
DOCK5	80005	broad.mit.edu	37	chr8	25253206	25253206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcatcgtggacccggccGtcatggggggcttctccaac	15	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:25253206G>A	uc003xeg.2	+	45	4812	c.4675G>A	c.(4675-4677)GTC>ATC	p.V1559I	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.V1129I|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1559	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		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)		GGACCCGGCCGTCATGGGGGG	0.582													A	25253206	G	A	25253206	3	1	257	1	0	0	0	0	1	0	0	0	4690	1145	40	1	4853	1	DOCK5	8	25253206	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	439323	25253206	121110816	754	127686											
EBF2	64641	broad.mit.edu	37	chr8	25747347	25747347	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgttgtcagaaacagccagGacgtgtccatccacattcac	8	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:25747347G>T	uc003xes.1	-	8	689	c.672C>A	c.(670-672)GTC>GTA	p.V224V	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_5'Flank	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	224					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		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)		AAACAGCCAGGACGTGTCCAT	0.473													T	25747347	G	T	25747347	2	4	257	1	0	0	0	0	0	0	0	1	4881	1161	41	5		5	EBF2	8	25747347	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	494141	25747347	120616675	755	127687											
TRIM35	23087	broad.mit.edu	37	chr8	27145436	27145436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcgcacacgtaccacGcccaccctccagctctgcag	8	20	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27145436G>A	uc003xfl.1	-	6	1195	c.1113C>T	c.(1111-1113)GGC>GGT	p.G371G	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	371	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CACGTACCACGCCCACCCTCC	0.697													A	27145436	G	A	27145436	2	1	257	1	0	0	0	0	0	0	0	1	16506	1074	38	1		1	TRIM35	8	27145436	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1398089	27145436	119218586	756	127688											
TRIM35	23087	broad.mit.edu	37	chr8	27145561	27145561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttctccacctgcacgcGgtagccatggttggtgacgc	14	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27145561G>A	uc003xfl.1	-	6	1070	c.988C>T	c.(988-990)CGC>TGC	p.R330C	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	330	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACCTGCACGCGGTAGCCATGG	0.657													A	27145561	G	A	27145561	3	1	257	1	0	0	0	0	1	0	0	0	16506	1116	39	1	497	1	TRIM35	8	27145561	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	125	27145561	119218461	757	127689											
PTK2B	2185	broad.mit.edu	37	chr8	27297913	27297913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctgctgggactacgAccccagtgaccggccccgct	12	18	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27297913A>G	uc003xfn.1	+	26	2802	c.1994A>G	c.(1993-1995)GAC>GGC	p.D665G	PTK2B_uc003xfo.1_Missense_Mutation_p.D665G|PTK2B_uc003xfp.1_Missense_Mutation_p.D665G|PTK2B_uc003xfq.1_Missense_Mutation_p.D665G|PTK2B_uc003xfr.1_Missense_Mutation_p.D411G	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	665	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGGGACTACGACCCCAGTGAC	0.652													G	27297913	A	G	27297913	3	3	257	1	0	0	0	0	1	0	0	0	12763	275	10	3	2072	3	PTK2B	8	27297913	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	152352	27297913	119066109	758	127690											
CHRNA2	1135	broad.mit.edu	37	chr8	27320707	27320707	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcccatctgtcctcctccTccaccaccacctccctctcc	2	24	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27320707T>A	uc010lur.2	-	6	1862	c.1253A>T	c.(1252-1254)GAG>GTG	p.E418V	CHRNA2_uc011lal.1_Missense_Mutation_p.E403V|CHRNA2_uc010lus.2_Missense_Mutation_p.E220V	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	418	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		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(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTCCTCCTCCTCCACCACCAC	0.657													A	27320707	T	A	27320707	3	1	257	1	0	0	0	0	1	0	0	0	3383	1551	54	5	344	5	CHRNA2	8	27320707	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	22794	27320707	119043315	759	127691											
CHRNA2	1135	broad.mit.edu	37	chr8	27320973	27320973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgaacagcaggtactcGccgatgagcgggatgaccag	15	9	0	3	rs147530139		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27320973G>A	uc010lur.2	-	6	1596	c.987C>T	c.(985-987)GGC>GGT	p.G329G	CHRNA2_uc011lal.1_Silent_p.G314G|CHRNA2_uc010lus.2_Silent_p.G131G	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	329						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		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(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCAGGTACTCGCCGATGAGCG	0.582													A	27320973	G	A	27320973	2	1	257	1	0	0	0	0	0	0	0	1	3383	1074	38	1		1	CHRNA2	8	27320973	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	266	27320973	119043049	760	127692											
ESCO2	157570	broad.mit.edu	37	chr8	27645493	27645493	+	Frame_Shift_Del	DEL	A	A	-													ctaataccagagatacaagtAaaaaaacaaaagaccagctc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27645492_27645492TA>T	uc003xgg.3	+	5	1187	c.1104_1104TA>T	c.(1102-1104)agtfs	p.S368fs	ESCO2_uc010luy.1_Non-coding_Transcript	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	368					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)		GAGATACAAGTAAAAAAACAA	0.383									SC Phocomelia syndrome				-	27645493	A	-	27645493	7	5	257	1	0	1	0	1	0	0	0	0	5249	363	13	0	1123	0	ESCO2	8	27645493	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	324520	27645493	118718529	761	127693											
SCARA5	286133	broad.mit.edu	37	chr8	27737278	27737278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatcatcggggcctccaCgccacctgccggagcagcca	11	17	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27737278C>T	uc003xgj.2	-	8	1599	c.1159G>A	c.(1159-1161)GTG>ATG	p.V387M	SCARA5_uc010luz.2_Missense_Mutation_p.V162M	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	387	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGGGCCTCCACGCCACCTGCC	0.657													T	27737278	C	T	27737278	3	4	257	1	0	0	0	0	1	0	0	0	13880	536	19	1	336	1	SCARA5	8	27737278	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	91785	27737278	118626744	762	127694											
KIF13B	23303	broad.mit.edu	37	chr8	29007824	29007824	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacatcatacctgaagaaatGattgtttccccataatatcc	4	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:29007824G>T	uc003xhh.3	-	15	1671	c.1612C>A	c.(1612-1614)CAT>AAT	p.H538N	KIF13B_uc003xhj.2_Missense_Mutation_p.H435N|KIF13B_uc010lvf.1_Missense_Mutation_p.H474N	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	538					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGAAGAAATGATTGTTTCCC	0.368													T	29007824	G	T	29007824	3	4	257	1	0	0	0	0	1	0	0	0	8275	1290	45	5	3972	5	KIF13B	8	29007824	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1270546	29007824	117356198	763	127695											
TEX15	56154	broad.mit.edu	37	chr8	30702408	30702408	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttttctctacagctctGctcacagtgtggtacagtac	7	12	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:30702408G>A	uc003xil.2	-	1	4126	c.4126C>T	c.(4126-4128)CAG>TAG	p.Q1376*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1376										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTACAGCTCTGCTCACAGTGT	0.398													A	30702408	G	A	30702408	4	1	257	1	0	0	0	0	0	1	0	0	15776	1328	46	2	4259	2	TEX15	8	30702408	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1694584	30702408	115661614	764	127696											
TEX15	56154	broad.mit.edu	37	chr8	30703828	30703828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatttttggtatcattataGtcagtttttgattttgtaaa	6	2	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:30703828G>T	uc003xil.2	-	1	2706	c.2706C>A	c.(2704-2706)GAC>GAA	p.D902E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	902										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATCATTATAGTCAGTTTTTG	0.318													T	30703828	G	T	30703828	3	4	257	1	0	0	0	0	1	0	0	0	15776	1020	36	5	5679	5	TEX15	8	30703828	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1420	30703828	115660194	765	127697											
PURG	29942	broad.mit.edu	37	chr8	30889409	30889409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaacagtaatagtattaCggtaaggtggtctcacctca	10	7	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:30889409C>T	uc003xin.2	-	1	909	c.890G>A	c.(889-891)CGT>CAT	p.R297H	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Intron	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	297						nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AATAGTATTACGGTAAGGTGG	0.378													T	30889409	C	T	30889409	3	4	257	1	0	0	0	0	1	0	0	0	12829	536	19	1	266	1	PURG	8	30889409	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	185581	30889409	115474613	766	127698											
RNF122	79845	broad.mit.edu	37	chr8	33416236	33416236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcctggaaactgatggGtggcatcgagcaggacttgt	15	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:33416236G>A	uc003xjo.1	-	2	481	c.79C>T	c.(79-81)CCC>TCC	p.P27S		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	27						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		AAACTGATGGGTGGCATCGAG	0.463													A	33416236	G	A	33416236	3	1	257	1	0	0	0	0	1	0	0	0	13432	1261	44	4	408	4	RNF122	8	33416236	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2526827	33416236	112947786	767	127699											
UNC5D	137970	broad.mit.edu	37	chr8	35583980	35583981	+	Frame_Shift_Ins	INS	-	-	A													atctgtcatcactccccacaINSaggacagaactgaggacaac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:35583979_35583980C>CA	uc003xjr.2	+	9	1941_1942	c.1613_1614C>CA	c.(1612-1614)acafs	p.T538fs	UNC5D_uc003xjs.2_Frame_Shift_Ins_p.T533fs|UNC5D_uc003xju.2_Frame_Shift_Ins_p.T114fs|UNC5D_uc003xjt.1_Frame_Shift_Ins_p.T296fs	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	538					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)		TCACTCCCCACAAGGACAGAAC	0.446													A	35583981	-	A	35583980	7	5	257	1	0	1	1	0	0	0	0	0	16992	117	5	0	1652	0	UNC5D	8	35583980	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2167744	35583980	110780042	768	127700											
ADRB3	155	broad.mit.edu	37	chr8	37823915	37823915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcccactggtgttggCggtattgggcgccagggtgg	19	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:37823915C>T	uc003xkr.1	-	1	270	c.73G>A	c.(73-75)GCC>ACC	p.A25T		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	25	Extracellular (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CTGGTGTTGGCGGTATTGGGC	0.726													T	37823915	C	T	37823915	3	4	257	1	0	0	0	0	1	0	0	0	342	768	27	1	1161	1	ADRB3	8	37823915	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2239935	37823915	108540107	769	127701											
BAG4	9530	broad.mit.edu	37	chr8	38065194	38065194	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctggcaacagcccaacTccagtctctcgttggatcta	7	14	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:38065194T>G	uc003xky.1	+	3	825	c.543T>G	c.(541-543)ACT>ACG	p.T181T	BAG4_uc003xkz.1_Silent_p.T145T	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	181					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				ACAGCCCAACTCCAGTCTCTC	0.517													G	38065194	T	G	38065194	2	3	257	1	0	0	0	0	0	0	0	1	1289	1538	54	5		5	BAG4	8	38065194	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	241279	38065194	108298828	770	127702											
FGFR1	2260	broad.mit.edu	37	chr8	38272116	38272116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccggtcaaataatgccTcgggtgccatccacttcaca	8	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:38272116T>C	uc003xlp.2	-	16	2951	c.2009A>G	c.(2008-2010)GAG>GGG	p.E670G	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.E668G|FGFR1_uc011lbp.1_Missense_Mutation_p.E581G|FGFR1_uc011lbq.1_Missense_Mutation_p.E579G|FGFR1_uc010lwk.2_Missense_Mutation_p.E660G	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	670	Cytoplasmic (Potential).|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			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	AAATAATGCCTCGGGTGCCAT	0.567		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						C	38272116	T	C	38272116	3	2	257	1	0	0	0	0	1	0	0	0	5863	1551	54	3	475	3	FGFR1	8	38272116	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	206922	38272116	108091906	771	127703											
ANK1	286	broad.mit.edu	37	chr8	41542084	41542084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatctgggagggtgacagCgagtagtcgcggtcggtgtg	18	7	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:41542084C>T	uc003xok.2	-	37	4599	c.4515G>A	c.(4513-4515)TCG>TCA	p.S1505S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S821S|ANK1_uc003xoi.2_Silent_p.S1505S|ANK1_uc003xoj.2_Silent_p.S1505S|ANK1_uc003xol.2_Silent_p.S1505S|ANK1_uc003xom.2_Silent_p.S1546S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1505	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			AGGGTGACAGCGAGTAGTCGC	0.612													T	41542084	C	T	41542084	2	4	257	1	0	0	0	0	0	0	0	1	620	755	27	1		1	ANK1	8	41542084	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3269968	41542084	104821938	772	127704											
MYST3	7994	broad.mit.edu	37	chr8	41791371	41791371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgggtgtaactctgcAgggtctgacacgccgcaaga	13	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:41791371A>G	uc010lxb.2	-	18	4911	c.4367T>C	c.(4366-4368)CTG>CCG	p.L1456P	MYST3_uc010lxc.2_Missense_Mutation_p.L1456P|MYST3_uc003xon.3_Missense_Mutation_p.L1456P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1456					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GTAACTCTGCAGGGTCTGACA	0.527													G	41791371	A	G	41791371	3	3	257	1	0	0	0	0	1	0	0	0	10104	188	7	3	1651	3	MYST3	8	41791371	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	249287	41791371	104572651	773	127705											
MYST3	7994	broad.mit.edu	37	chr8	41798364	41798364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagaaatgcgttacctttCgcttcagcgtgggctttgtg	12	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:41798364C>T	uc010lxb.2	-	16	3579	c.3035G>A	c.(3034-3036)CGA>CAA	p.R1012Q	MYST3_uc010lxc.2_Missense_Mutation_p.R1012Q|MYST3_uc003xon.3_Missense_Mutation_p.R1012Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1012					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CGTTACCTTTCGCTTCAGCGT	0.498													T	41798364	C	T	41798364	3	4	257	1	0	0	0	0	1	0	0	0	10104	884	31	1	2991	1	MYST3	8	41798364	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6993	41798364	104565658	774	127706											
CHRNA6	8973	broad.mit.edu	37	chr8	42611206	42611206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgcaagcttgcctttgGcaggcctcctggcaaggcct	13	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:42611206G>A	uc003xpj.2	-	5	1182	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	CHRNA6_uc011lcw.1_Missense_Mutation_p.A364V	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	379	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	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)			CTTGCCTTTGGCAGGCCTCCT	0.537													A	42611206	G	A	42611206	3	1	257	1	0	0	0	0	1	0	0	0	3387	1203	42	2	356	2	CHRNA6	8	42611206	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	812842	42611206	103752816	775	127707											
PXDNL	137902	broad.mit.edu	37	chr8	52322022	52322022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacttcgcatggaaacacCggttggagcagtttggcaga	14	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:52322022C>T	uc003xqu.3	-	17	2263	c.2162G>A	c.(2161-2163)CGG>CAG	p.R721Q	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	721					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATGGAAACACCGGTTGGAGCA	0.637													T	52322022	C	T	52322022	3	4	257	1	0	0	0	0	1	0	0	0	12848	652	23	1	2257	1	PXDNL	8	52322022	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	9710816	52322022	94042000	776	127708											
PCMTD1	115294	broad.mit.edu	37	chr8	52744035	52744035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctggtttgccattatcAttcttacttggttgcacaag	8	8	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:52744035A>G	uc003xqx.3	-	5	1016	c.675T>C	c.(673-675)AAT>AAC	p.N225N	PCMTD1_uc011ldm.1_Silent_p.N95N|PCMTD1_uc003xqw.3_Silent_p.N225N|PCMTD1_uc011ldn.1_Silent_p.N37N|PCMTD1_uc010lya.2_Silent_p.N149N	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	225						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGCCATTATCATTCTTACTTG	0.368													G	52744035	A	G	52744035	2	3	257	1	0	0	0	0	0	0	0	1	11586	214	8	3		3	PCMTD1	8	52744035	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	422013	52744035	93619987	777	127709											
OPRK1	4986	broad.mit.edu	37	chr8	54163444	54163444	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatggccggggagatgtgcgCgggctccagctgcgcgtcct	18	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:54163444C>G	uc003xrh.1	-	1	529	c.154G>C	c.(154-156)GCG>CCG	p.A52P	OPRK1_uc003xri.1_Missense_Mutation_p.A52P|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	52	Extracellular (Potential).				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			ovary(1)|skin(1)	2		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)	GAGATGTGCGCGGGCTCCAGC	0.682													G	54163444	C	G	54163444	3	3	257	1	0	0	0	0	1	0	0	0	10885	768	27	5	1000	5	OPRK1	8	54163444	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1419409	54163444	92200578	778	127710											
ATP6V1H	51606	broad.mit.edu	37	chr8	54708293	54708293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggaatgatattatagcGccgcaggtgttcacacattt	9	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:54708293G>A	uc003xrl.2	-	9	936	c.784C>T	c.(784-786)CGC>TGC	p.R262C	ATP6V1H_uc003xrk.2_Missense_Mutation_p.R222C|ATP6V1H_uc003xrm.2_Missense_Mutation_p.R262C|ATP6V1H_uc003xrn.2_Missense_Mutation_p.R244C|ATP6V1H_uc011ldv.1_Missense_Mutation_p.R182C|ATP6V1H_uc010lyd.2_Missense_Mutation_p.R198C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	262					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				0		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)			ATATTATAGCGCCGCAGGTGT	0.408													A	54708293	G	A	54708293	3	1	257	1	0	0	0	0	1	0	0	0	1189	1087	38	1	691	1	ATP6V1H	8	54708293	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	544849	54708293	91655729	779	127711											
LYPLA1	10434	broad.mit.edu	37	chr8	54978307	54978307	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatcagaaatactcaCgcatgcgggcagatatattt	9	8	2	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:54978307C>T	uc003xry.2	-	3	361	c.167_splice	c.e3+1	p.A56_splice	LYPLA1_uc011ldx.1_Splice_Site_p.A51_splice|LYPLA1_uc003xrz.2_Splice_Site_p.A51_splice	NM_006330	NP_006321	O75608	LYPA1_HUMAN	lysophospholipase 1						fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GAAATACTCACGCATGCGGGC	0.398													T	54978307	C	T	54978307	5	4	257	1	0	0	0	0	0	0	1	0	9116	550	19	1	552	1	LYPLA1	8	54978307	Splice_Site	SNP	C	TCGA-HU-8602-01A-11D-2394-08	270014	54978307	91385715	780	127712											
RP1	6101	broad.mit.edu	37	chr8	55533673	55533673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggagacccccaattcggCggggtcagggtggtggtcaa	17	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:55533673C>T	uc003xsd.1	+	2	295	c.147C>T	c.(145-147)GGC>GGT	p.G49G	RP1_uc011ldy.1_Silent_p.G49G	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	49	Doublecortin 1.				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			skin(7)|ovary(4)|pancreas(1)	12		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)			CCCAATTCGGCGGGGTCAGGG	0.547													T	55533673	C	T	55533673	2	4	257	1	0	0	0	0	0	0	0	1	13532	755	27	1		1	RP1	8	55533673	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	555366	55533673	90830349	781	127713											
RP1	6101	broad.mit.edu	37	chr8	55541306	55541306	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgaacttacccaagagaaaGaatataacataggatttgtt	8	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:55541306G>T	uc003xsd.1	+	4	5012	c.4864G>T	c.(4864-4866)GAA>TAA	p.E1622*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1622					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			skin(7)|ovary(4)|pancreas(1)	12		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)			CCAAGAGAAAGAATATAACAT	0.403													T	55541306	G	T	55541306	4	4	257	1	0	0	0	0	0	1	0	0	13532	943	33	5	4874	5	RP1	8	55541306	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7633	55541306	90822716	782	127714											
PENK	5179	broad.mit.edu	37	chr8	57354427	57354427	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctctggtttggacagctGcaggagctccttgcaggttt	13	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:57354427G>A	uc003xsz.2	-	2	289	c.208C>T	c.(208-210)CAG>TAG	p.Q70*	PENK_uc003xta.3_Nonsense_Mutation_p.Q70*	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	70					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTGGACAGCTGCAGGAGCTCC	0.453													A	57354427	G	A	57354427	4	1	257	1	0	0	0	0	0	1	0	0	11727	1328	46	2	599	2	PENK	8	57354427	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1813121	57354427	89009595	783	127715											
PENK	5179	broad.mit.edu	37	chr8	57358454	57358454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattcggcccgcacggtcGccaggagcccggggccgagc	16	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:57358454G>A	uc003xsz.2	-	1	140	c.59C>T	c.(58-60)GCG>GTG	p.A20V	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.A20V|PENK_uc010lym.2_Missense_Mutation_p.A20V	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	20					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCGCACGGTCGCCAGGAGCCC	0.677													A	57358454	G	A	57358454	3	1	257	1	0	0	0	0	1	0	0	0	11727	1087	38	1	752	1	PENK	8	57358454	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4027	57358454	89005568	784	127716											
CHD7	55636	broad.mit.edu	37	chr8	61765669	61765669	+	Frame_Shift_Del	DEL	A	A	-													tatccttcttggatgcacatAaaaactttgctcaaaacaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:61765668_61765668TA>T	uc003xue.3	+	30	6876	c.6384_6384TA>T	c.(6382-6384)catfs	p.H2128fs	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2128					T cell differentiation|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|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin 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)			TGGATGCACATAAAAACTTTG	0.483													-	61765669	A	-	61765669	7	5	257	1	0	1	0	1	0	0	0	0	3330	363	13	0	6503	0	CHD7	8	61765669	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	4407215	61765669	84598353	785	127717											
ASPH	444	broad.mit.edu	37	chr8	62465665	62465665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagtgccaggatctccGgattctattccttcctgtag	8	12	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:62465665G>A	uc003xuj.2	-	20	1820	c.1551C>T	c.(1549-1551)TCC>TCT	p.S517S	ASPH_uc011leg.1_Silent_p.S488S	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	517	TPR 3.|Lumenal (Potential).				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			ovary(3)	3	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)	CAGGATCTCCGGATTCTATTC	0.388													A	62465665	G	A	62465665	2	1	257	1	0	0	0	0	0	0	0	1	1053	1103	39	1		1	ASPH	8	62465665	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	699996	62465665	83898357	786	127718											
TRIM55	84675	broad.mit.edu	37	chr8	67064625	67064625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagaagatgaagatgaAgaagaagaagaaggcggaga	14	3	0	10			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:67064625A>T	uc003xvv.2	+	8	1225	c.999A>T	c.(997-999)GAA>GAT	p.E333D	TRIM55_uc003xvu.2_Missense_Mutation_p.E333D|TRIM55_uc003xvw.2_Missense_Mutation_p.E333D|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	333						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		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)			atgaagatgaagaagaagaag	0.199													T	67064625	A	T	67064625	3	4	257	1	0	0	0	0	1	0	0	0	16526	69	3	5	1029	5	TRIM55	8	67064625	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	4598960	67064625	79299397	787	127719											
VCPIP1	80124	broad.mit.edu	37	chr8	67547317	67547317	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agatgcagttcctaaagaatGcccttttccctgaaaggcag	9	10	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:67547317G>C	uc003xwn.2	-	3	3347	c.3088C>G	c.(3088-3090)CAT>GAT	p.H1030D		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1030					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		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)			CCTAAAGAATGCCCTTTTCCC	0.413													C	67547317	G	C	67547317	3	2	257	1	0	0	0	0	1	0	0	0	17138	1319	46	5	584	5	VCPIP1	8	67547317	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	482692	67547317	78816705	788	127720											
ARFGEF1	10565	broad.mit.edu	37	chr8	68179131	68179131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagagttgtctgggagttgGgattcacatactgatcctta	11	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68179131G>T	uc003xxo.1	-	13	2291	c.1901C>A	c.(1900-1902)CCC>CAC	p.P634H	ARFGEF1_uc003xxl.1_Missense_Mutation_p.P88H	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	634					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			CTGGGAGTTGGGATTCACATA	0.363													T	68179131	G	T	68179131	3	4	257	1	0	0	0	0	1	0	0	0	852	1232	43	5	3756	5	ARFGEF1	8	68179131	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	631814	68179131	78184891	789	127721											
ARFGEF1	10565	broad.mit.edu	37	chr8	68213459	68213459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtgccattttagacatacCtgtaagcaatctagagatgt	8	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68213459C>A	uc003xxo.1	-	3	702	c.312G>T	c.(310-312)CAG>CAT	p.Q104H		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	104					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			TTAGACATACCTGTAAGCAAT	0.353													A	68213459	C	A	68213459	3	1	257	1	0	0	0	0	1	0	0	0	852	695	24	5	5385	5	ARFGEF1	8	68213459	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	34328	68213459	78150563	790	127722											
CPA6	57094	broad.mit.edu	37	chr8	68396943	68396943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaaatggtatccatcgaCgttaaacacaggcatgatat	7	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68396943C>T	uc003xxq.3	-	7	974	c.718G>A	c.(718-720)GTC>ATC	p.V240I	CPA6_uc003xxr.3_Missense_Mutation_p.V92I|CPA6_uc003xxs.2_Missense_Mutation_p.V240I	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	240					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TATCCATCGACGTTAAACACA	0.363													T	68396943	C	T	68396943	3	4	257	1	0	0	0	0	1	0	0	0	3794	536	19	1	615	1	CPA6	8	68396943	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	183484	68396943	77967079	791	127723											
CPA6	57094	broad.mit.edu	37	chr8	68421815	68421815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaacatgtgaatgaggccTgagtgagttttattcagatg	13	4	1	6			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68421815T>C	uc003xxq.3	-	5	727	c.471A>G	c.(469-471)TCA>TCG	p.S157S	CPA6_uc003xxr.3_Silent_p.S9S|CPA6_uc003xxs.2_Silent_p.S157S	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	157					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GAATGAGGCCTGAGTGAGTTT	0.303													C	68421815	T	C	68421815	2	2	257	1	0	0	0	0	0	0	0	1	3794	1567	55	3		3	CPA6	8	68421815	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	24872	68421815	77942207	792	127724											
EYA1	2138	broad.mit.edu	37	chr8	72211324	72211324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctggtgatgccagatgGcggttcttgaagctggtaag	16	6	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:72211324G>A	uc003xys.3	-	8	1071	c.784C>T	c.(784-786)CCA>TCA	p.P262S	EYA1_uc003xyr.3_Missense_Mutation_p.P257S|EYA1_uc003xyt.3_Missense_Mutation_p.P229S|EYA1_uc010lzf.2_Missense_Mutation_p.P189S|EYA1_uc003xyu.2_Missense_Mutation_p.P262S|EYA1_uc011lfe.1_Missense_Mutation_p.P256S|EYA1_uc003xyv.2_Missense_Mutation_p.P140S	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	262					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			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCCAGATGGCGGTTCTTGA	0.448													A	72211324	G	A	72211324	3	1	257	1	0	0	0	0	1	0	0	0	5328	1203	42	2	1034	2	EYA1	8	72211324	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3789509	72211324	74152698	793	127725											
PI15	51050	broad.mit.edu	37	chr8	75737735	75737735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggggcaaagtgttcccacCggcagcaaatatggaatata	11	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:75737735C>T	uc003yal.2	+	2	430	c.251C>T	c.(250-252)CCG>CTG	p.P84L	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.P84L	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	84						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTGTTCCCACCGGCAGCAAAT	0.398													T	75737735	C	T	75737735	3	4	257	1	0	0	0	0	1	0	0	0	11868	652	23	1	253	1	PI15	8	75737735	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3526411	75737735	70626287	794	127726											
ZFHX4	79776	broad.mit.edu	37	chr8	77766976	77766976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccaacaccgagataaaCgcttgagaaccacgatcacc	7	13	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:77766976C>T	uc003yav.2	+	10	8071	c.7684C>T	c.(7684-7686)CGC>TGC	p.R2562C	ZFHX4_uc003yau.1_Missense_Mutation_p.R2607C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2562C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2562	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGAGATAAACGCTTGAGAAC	0.423										HNSCC(33;0.089)			T	77766976	C	T	77766976	3	4	257	1	0	0	0	0	1	0	0	0	17632	536	19	1	7853	1	ZFHX4	8	77766976	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2029241	77766976	68597046	795	127727											
PEX2	5828	broad.mit.edu	37	chr8	77895611	77895611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaataagaaactactcttAgcacagaaataacagaaaat	4	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:77895611A>G	uc003yax.2	-	4	1262	c.804T>C	c.(802-804)GCT>GCC	p.A268A	PEX2_uc003yay.2_Silent_p.A268A|PEX2_uc003yaz.2_Silent_p.A268A	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	268	RING-type.				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						AACTACTCTTAGCACAGAAAT	0.443													G	77895611	A	G	77895611	2	3	257	1	0	0	0	0	0	0	0	1	11745	407	15	3		3	PEX2	8	77895611	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	128635	77895611	68468411	796	127728											
FAM164A	51101	broad.mit.edu	37	chr8	79609706	79609706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaggatcttcacgatTaccgcagccaagtggcgctg	10	12	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:79609706T>C	uc003ybd.2	+	6	671	c.569T>C	c.(568-570)TTA>TCA	p.L190S		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	190										ovary(1)	1						TCTTCACGATTACCGCAGCCA	0.388													C	79609706	T	C	79609706	3	2	257	1	0	0	0	0	1	0	0	0	5478	1764	61	3	591	3	FAM164A	8	79609706	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1714095	79609706	66754316	797	127729											
FAM164A	51101	broad.mit.edu	37	chr8	79629706	79629706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaattttgctgtgaatgtgGcattcgaagaatgattctat	9	5	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:79629706G>A	uc003ybd.2	+	9	1058	c.956G>A	c.(955-957)GGC>GAC	p.G319D		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	319										ovary(1)	1						TGTGAATGTGGCATTCGAAGA	0.383													A	79629706	G	A	79629706	3	1	257	1	0	0	0	0	1	0	0	0	5478	1203	42	2	990	2	FAM164A	8	79629706	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	20000	79629706	66734316	798	127730											
HEY1	23462	broad.mit.edu	37	chr8	80677870	80677870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcgtagttgttgagatgCgaaaccagtcgaactcgaag	13	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:80677870C>T	uc003ybm.2	-	5	668	c.468G>A	c.(466-468)TCG>TCA	p.S156S	HEY1_uc010lzq.2_Silent_p.S37S|HEY1_uc003ybl.2_Silent_p.S160S	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	156	Orange.				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			TGTTGAGATGCGAAACCAGTC	0.597											OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	80677870	C	T	80677870	2	4	257	1	0	0	0	0	0	0	0	1	7078	755	27	1		1	HEY1	8	80677870	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1048164	80677870	65686152	799	127731											
HEY1	23462	broad.mit.edu	37	chr8	80677994	80677994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccatagcaagggcgtgcGcgtcaaagtaacctaagcaa	11	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:80677994G>A	uc003ybm.2	-	5	544	c.344C>T	c.(343-345)GCG>GTG	p.A115V	HEY1_uc010lzq.2_5'UTR|HEY1_uc003ybl.2_Missense_Mutation_p.A119V	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	115	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			AAGGGCGTGCGCGTCAAAGTA	0.488											OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	80677994	G	A	80677994	3	1	257	1	0	0	0	0	1	0	0	0	7078	1087	38	1	574	1	HEY1	8	80677994	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	124	80677994	65686028	800	127732											
ZNF704	619279	broad.mit.edu	37	chr8	81605280	81605280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgaaccaaagggctagtcGacaagctggttagtaccatt	10	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:81605280G>A	uc003yby.1	-	3	516	c.284C>T	c.(283-285)TCG>TTG	p.S95L		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	95						intracellular	zinc ion binding				0	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)			AGGGCTAGTCGACAAGCTGGT	0.507													A	81605280	G	A	81605280	3	1	257	1	0	0	0	0	1	0	0	0	18104	1059	37	1	982	1	ZNF704	8	81605280	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	927286	81605280	64758742	801	127733											
FABP9	646480	broad.mit.edu	37	chr8	82373717	82373717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtaatcctcaaagttttcActggagaccagcttccaggt	8	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:82373717A>G	uc011lfo.1	-	1	42	c.42T>C	c.(40-42)AGT>AGC	p.S14S		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	14							lipid binding|transporter activity				0			Epithelial(68;0.186)			CAAAGTTTTCACTGGAGACCA	0.398													G	82373717	A	G	82373717	2	3	257	1	0	0	0	0	0	0	0	1	5363	156	6	3		3	FABP9	8	82373717	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	768437	82373717	63990305	802	127734											
CA13	377677	broad.mit.edu	37	chr8	86171714	86171714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaccttcactgggggtcCgctgatgaccacggctccga	12	14	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:86171714C>T	uc003ydg.2	+	3	642	c.300C>T	c.(298-300)TCC>TCT	p.S100S	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	100					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						ACTGGGGGTCCGCTGATGACC	0.483													T	86171714	C	T	86171714	2	4	257	1	0	0	0	0	0	0	0	1	2514	639	23	1		1	CA13	8	86171714	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3797997	86171714	60192308	803	127735											
CA2	760	broad.mit.edu	37	chr8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-													tggactggccgttctaggtaTttttttgaaggttagttgat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					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)	CGTTCTAGGTATTTTTTTGAA	0.388													-	86386635	T	-	86386635	7	5	257	1	0	1	0	1	0	0	0	0	2516	1493	52	0	448	0	CA2	8	86386635	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	214921	86386635	59977387	804	127736											
CNBD1	168975	broad.mit.edu	37	chr8	88296993	88296993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcggtggtgacagaagacGattgtgaaattcttaaaatc	10	6	2	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:88296993G>A	uc003ydy.2	+	7	907	c.859G>A	c.(859-861)GAT>AAT	p.D287N		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	287										ovary(3)	3						GACAGAAGACGATTGTGAAAT	0.363													A	88296993	G	A	88296993	3	1	257	1	0	0	0	0	1	0	0	0	3591	1058	37	1	885	1	CNBD1	8	88296993	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1910358	88296993	58067029	805	127737											
MMP16	4325	broad.mit.edu	37	chr8	89068388	89068388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaataggttttcccgacGtcctcccaccaaatggctga	8	12	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:89068388G>A	uc003yeb.3	-	8	1623	c.1341C>T	c.(1339-1341)GAC>GAT	p.D447D		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	447	Extracellular (Potential).|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			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TTTTCCCGACGTCCTCCCACC	0.413													A	89068388	G	A	89068388	2	1	257	1	0	0	0	0	0	0	0	1	9655	1136	40	1		1	MMP16	8	89068388	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	771395	89068388	57295634	806	127738											
CALB1	793	broad.mit.edu	37	chr8	91095086	91095086	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgctgctcagctcagcGttcctccagagttctctccc	9	16	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:91095086G>A	uc003yel.1	-	1	22	c.-160C>T	c.(-162--158)AACGC>AATGC		CALB1_uc003yem.1_Intron	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1							nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGCTCAGCGTTCCTCCAGA	0.667													A	91095086	G	A	91095086	1	1	257	1	0	0	0	0	0	0	0	0	2573	1160	40	1		1	CALB1	8	91095086	Translation_Start_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2026698	91095086	55268936	807	127739											
OTUD6B	51633	broad.mit.edu	37	chr8	92090768	92090768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagccattgaagatcaacTgaaagaaaaggattgtgctc	9	6	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:92090768T>G	uc003yeu.3	+	4	689	c.590T>G	c.(589-591)CTG>CGG	p.L197R	OTUD6B_uc011lgh.1_Missense_Mutation_p.L66R	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	167	OTU.									ovary(2)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GAAGATCAACTGAAAGAAAAG	0.398													G	92090768	T	G	92090768	3	3	257	1	0	0	0	0	1	0	0	0	11317	1580	55	5	604	5	OTUD6B	8	92090768	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	995682	92090768	54273254	808	127740											
RUNX1T1	862	broad.mit.edu	37	chr8	92998502	92998502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgacaccgccttagtaCggtgagagatcgccttgttt	10	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:92998502C>T	uc003yfd.2	-	8	1213	c.1129G>A	c.(1129-1131)GTA>ATA	p.V377I	RUNX1T1_uc003yfc.1_Missense_Mutation_p.V350I|RUNX1T1_uc003yfe.1_Missense_Mutation_p.V340I|RUNX1T1_uc010mao.2_Missense_Mutation_p.V350I|RUNX1T1_uc011lgi.1_Missense_Mutation_p.V388I|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.V340I	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	377	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CGCCTTAGTACGGTGAGAGAT	0.458													T	92998502	C	T	92998502	3	4	257	1	0	0	0	0	1	0	0	0	13747	536	19	1	701	1	RUNX1T1	8	92998502	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	907734	92998502	53365520	809	127741											
RBM12B	389677	broad.mit.edu	37	chr8	94746311	94746311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtctccggaagtgctcCgggggcgggcgcctgaaatg	19	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:94746311C>T	uc003yfz.2	-	3	2521	c.2328G>A	c.(2326-2328)CCG>CCA	p.P776P		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	776							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAAGTGCTCCGGGGGCGGGC	0.662													T	94746311	C	T	94746311	2	4	257	1	0	0	0	0	0	0	0	1	13114	639	23	1		1	RBM12B	8	94746311	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1747809	94746311	51617711	810	127742											
INTS8	55656	broad.mit.edu	37	chr8	95892358	95892358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggaagatcaaagccatcGgccagacagagttgaatgca	11	8	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:95892358G>A	uc003yhb.2	+	27	3010	c.2884G>A	c.(2884-2886)GGC>AGC	p.G962S	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.G772S	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	962					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					CAAAGCCATCGGCCAGACAGA	0.383													A	95892358	G	A	95892358	3	1	257	1	0	0	0	0	1	0	0	0	7784	1116	39	1	2990	1	INTS8	8	95892358	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1146047	95892358	50471664	811	127743											
STK3	6788	broad.mit.edu	37	chr8	99560281	99560281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccaacatcgtgctattatGttcaatcatggtctgggccc	8	11	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:99560281G>T	uc003yip.2	-	9	1198	c.1057C>A	c.(1057-1059)CAT>AAT	p.H353N	STK3_uc003yio.2_Missense_Mutation_p.H381N|STK3_uc010mbm.1_Missense_Mutation_p.H242N	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	353					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GTGCTATTATGTTCAATCATG	0.483													T	99560281	G	T	99560281	3	4	257	1	0	0	0	0	1	0	0	0	15294	1377	48	5	430	5	STK3	8	99560281	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3667923	99560281	46803741	812	127744											
FBXO43	286151	broad.mit.edu	37	chr8	101146188	101146188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggctgttcggctacacaGtccccttttcttatatggct	8	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:101146188G>T	uc003yjd.2	-	5	2682	c.1969C>A	c.(1969-1971)CTG>ATG	p.L657M	FBXO43_uc003yje.2_Missense_Mutation_p.L623M	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	657	IBR-type.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CGGCTACACAGTCCCCTTTTC	0.448													T	101146188	G	T	101146188	3	4	257	1	0	0	0	0	1	0	0	0	5752	1020	36	5	161	5	FBXO43	8	101146188	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1585907	101146188	45217834	813	127745											
FBXO43	286151	broad.mit.edu	37	chr8	101154029	101154029	+	Frame_Shift_Del	DEL	T	T	-													aaccttctgcgaggtaaacaTtttttcccactgattttagg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:101154028_101154028AT>A	uc003yjd.3	-	1	1190	c.454_454AT>T	c.(454-456)tgtfs	p.C152fs	FBXO43_uc003yje.3_Frame_Shift_Del_p.C118fs|FBXO43_uc010mbp.2_Frame_Shift_Del_p.C152fs	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	152					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CGAGGTAAACATTTTTTCCCA	0.343													-	101154029	T	-	101154029	7	5	257	1	0	1	0	1	0	0	0	0	5752	1490	52	0	1689	0	FBXO43	8	101154029	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	7841	101154029	45209993	814	127746											
PABPC1	26986	broad.mit.edu	37	chr8	101730087	101730087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagtgtacaaatccataGcccttggaaccattttcatc	5	11	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:101730087G>A	uc003yjs.1	-	3	921	c.417C>T	c.(415-417)GGC>GGT	p.G139G	PABPC1_uc011lhc.1_Silent_p.G107G|PABPC1_uc011lhd.1_Silent_p.G94G|PABPC1_uc003yjt.1_Silent_p.G139G|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	139	RRM 2.				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				0	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)			CAAATCCATAGCCCTTGGAAC	0.348													A	101730087	G	A	101730087	2	1	257	1	0	0	0	0	0	0	0	1	11363	958	34	2		2	PABPC1	8	101730087	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	576058	101730087	44633935	815	127747											
SLC25A32	81034	broad.mit.edu	37	chr8	104413839	104413839	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatatgggtatgttgctgcGacagcaaatattttggatag	12	4	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:104413839G>A	uc003yll.2	-	6	1020	c.717C>T	c.(715-717)GTC>GTT	p.V239V	SLC25A32_uc011lhr.1_Silent_p.V107V	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	239	Solcar 3.|Helical; Name=5; (Potential).				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ATGTTGCTGCGACAGCAAATA	0.363													A	104413839	G	A	104413839	2	1	257	1	0	0	0	0	0	0	0	1	14496	1045	37	1		1	SLC25A32	8	104413839	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2683752	104413839	41950183	816	127748											
RIMS2	9699	broad.mit.edu	37	chr8	104987622	104987622	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagctcaacattatcaGtgccagaacaagtaatgtca	6	9	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:104987622G>C	uc003yls.2	+	14	2390	c.2149G>C	c.(2149-2151)GTG>CTG	p.V717L	RIMS2_uc003ylp.2_Missense_Mutation_p.V939L|RIMS2_uc003ylw.2_Missense_Mutation_p.V731L|RIMS2_uc003ylq.2_Missense_Mutation_p.V731L|RIMS2_uc003ylr.2_Missense_Mutation_p.V778L|RIMS2_uc003ylt.2_Missense_Mutation_p.V324L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1001					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACATTATCAGTGCCAGAACA	0.388										HNSCC(12;0.0054)			C	104987622	G	C	104987622	3	2	257	1	0	0	0	0	1	0	0	0	13368	1029	36	5	3003	5	RIMS2	8	104987622	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	573783	104987622	41376400	817	127749											
TM7SF4	81501	broad.mit.edu	37	chr8	105361777	105361777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagtttcaaagcttgccaGggtttgaggttcacttgaaa	11	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:105361777G>T	uc003ylx.1	+	2	1046	c.997G>T	c.(997-999)GGG>TGG	p.G333W		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	333					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAGCTTGCCAGGGTTTGAGGT	0.373													T	105361777	G	T	105361777	3	4	257	1	0	0	0	0	1	0	0	0	15973	1000	35	5	999	5	TM7SF4	8	105361777	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	374155	105361777	41002245	818	127750											
ANGPT1	284	broad.mit.edu	37	chr8	108306229	108306229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgatgttgtattacagTccaacctcccccattgacat	5	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:108306229T>C	uc003ymn.2	-	6	1441	c.973A>G	c.(973-975)ACT>GCT	p.T325A	ANGPT1_uc011lhv.1_Missense_Mutation_p.T125A|ANGPT1_uc003ymo.2_Missense_Mutation_p.T324A|ANGPT1_uc003ymp.3_Missense_Mutation_p.T124A	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	325	Fibrinogen C-terminal.				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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGTATTACAGTCCAACCTCCC	0.343													C	108306229	T	C	108306229	3	2	257	1	0	0	0	0	1	0	0	0	610	1667	58	3	539	3	ANGPT1	8	108306229	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2944452	108306229	38057793	819	127751											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477304	110477304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactttatgaactttgaccGtcccaactgtgtagctttgg	9	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:110477304G>A	uc003yne.2	+	49	8347	c.8243G>A	c.(8242-8244)CGT>CAT	p.R2748H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2748	Extracellular (Potential).|PbH1 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACTTTGACCGTCCCAACTGT	0.473										HNSCC(38;0.096)			A	110477304	G	A	110477304	3	1	257	1	0	0	0	0	1	0	0	0	11972	1145	40	1	8437	1	PKHD1L1	8	110477304	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2171075	110477304	35886718	820	127752											
SYBU	55638	broad.mit.edu	37	chr8	110590246	110590246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatgtaccttccagaacgCctgaaacaatccaagtaatg	7	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:110590246C>A	uc003ynj.3	-	6	898	c.735G>T	c.(733-735)AGG>AGT	p.R245S	SYBU_uc003yni.3_Missense_Mutation_p.R242S|SYBU_uc003ynk.3_Missense_Mutation_p.R126S|SYBU_uc010mco.2_Missense_Mutation_p.R244S|SYBU_uc003ynl.3_Missense_Mutation_p.R244S|SYBU_uc010mcp.2_Missense_Mutation_p.R245S|SYBU_uc010mcq.2_Missense_Mutation_p.R245S|SYBU_uc003yno.3_Missense_Mutation_p.R126S|SYBU_uc010mcr.2_Missense_Mutation_p.R245S|SYBU_uc003ynm.3_Missense_Mutation_p.R244S|SYBU_uc003ynn.3_Missense_Mutation_p.R244S|SYBU_uc010mcs.2_Missense_Mutation_p.R126S|SYBU_uc010mct.2_Missense_Mutation_p.R245S|SYBU_uc010mcu.2_Missense_Mutation_p.R244S|SYBU_uc003ynp.3_Missense_Mutation_p.R177S|SYBU_uc010mcv.2_Missense_Mutation_p.R245S|SYBU_uc003ynh.3_Missense_Mutation_p.R39S|SYBU_uc011lhw.1_Missense_Mutation_p.R115S	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	245	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TTCCAGAACGCCTGAAACAAT	0.368													A	110590246	C	A	110590246	3	1	257	1	0	0	0	0	1	0	0	0	15424	753	26	5	1264	5	SYBU	8	110590246	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	112942	110590246	35773776	821	127753											
TRPS1	7227	broad.mit.edu	37	chr8	116599270	116599270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttggacttgttttctccCgatgcaggatactgctgggg	12	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:116599270C>T	uc003ynz.2	-	4	3078	c.2619G>A	c.(2617-2619)TCG>TCA	p.S873S	TRPS1_uc011lhy.1_Silent_p.S877S|TRPS1_uc003yny.2_Silent_p.S886S|TRPS1_uc010mcy.2_Silent_p.S873S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	873					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TGTTTTCTCCCGATGCAGGAT	0.507									Langer-Giedion_syndrome				T	116599270	C	T	116599270	2	4	257	1	0	0	0	0	0	0	0	1	16590	639	23	1		1	TRPS1	8	116599270	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6009024	116599270	29764752	822	127754											
SLC30A8	169026	broad.mit.edu	37	chr8	118183307	118183308	+	Frame_Shift_Del	DEL	AG	AG	-													ctgaattacagtggtgtgaaAgagcttattttagcagtcga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:118183306_118183307AAG>A	uc003yoh.3	+	6	1093_1094	c.863_864AAG>A	c.(862-864)aaafs	p.K288fs	SLC30A8_uc010mcz.3_Frame_Shift_Del_p.K239fs|SLC30A8_uc003yog.3_Frame_Shift_Del_p.K239fs|SLC30A8_uc011lia.2_Frame_Shift_Del_p.K239fs|SLC30A8_uc022bab.1_Frame_Shift_Del_p.K239fs	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	288					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)			AGTGGTGTGAAAGAGCTTATTT	0.441													-	118183308	AG	-	118183307	7	5	257	1	0	1	0	1	0	0	0	0	14561	69	3	0	890	0	SLC30A8	8	118183307	Frame_Shift_Del	DEL	AG	TCGA-HU-8602-01A-11D-2394-08	1584037	118183307	28180715	823	127755											
ZHX2	22882	broad.mit.edu	37	chr8	123964842	123964842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagcccatcctccagacGgctctaccgtgccagatcct	8	18	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:123964842G>A	uc003ypk.1	+	3	1659	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	364	Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCTCCAGACGGCTCTACCGT	0.617													A	123964842	G	A	123964842	2	1	257	1	0	0	0	0	0	0	0	1	17673	1103	39	1		1	ZHX2	8	123964842	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5781535	123964842	22399180	824	127756											
ATAD2	29028	broad.mit.edu	37	chr8	124371574	124371574	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacactatcaaatcgTacctggtaatggaagcgaac	7	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:124371574T>C	uc003yqh.3	-	11	1377	c.1269A>G	c.(1267-1269)GTA>GTG	p.V423V	ATAD2_uc011lii.1_Silent_p.V214V|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.V423V	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCAAATCGTACCTGGTAAT	0.348													C	124371574	T	C	124371574	2	2	257	1	0	0	0	0	0	0	0	1	1071	1625	57	3		3	ATAD2	8	124371574	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	406732	124371574	21992448	825	127757											
FAM91A1	157769	broad.mit.edu	37	chr8	124799557	124799557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacacacgaagcgcatcGcattcctgtttgactccact	8	14	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:124799557G>A	uc003yqv.2	+	13	1196	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	FAM91A1_uc011lik.1_Missense_Mutation_p.A379T|FAM91A1_uc011lil.1_Missense_Mutation_p.A137T	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	379										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAAGCGCATCGCATTCCTGTT	0.378													A	124799557	G	A	124799557	3	1	257	1	0	0	0	0	1	0	0	0	5651	1087	38	1	1185	1	FAM91A1	8	124799557	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	427983	124799557	21564465	826	127758											
FER1L6	654463	broad.mit.edu	37	chr8	125078740	125078740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgaatctgctgaaaaCgtgattgactggtggtctaa	12	6	2	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:125078740C>T	uc003yqw.2	+	27	3833	c.3627C>T	c.(3625-3627)AAC>AAT	p.N1209N	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1209	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCTGAAAACGTGATTGACT	0.483													T	125078740	C	T	125078740	2	4	257	1	0	0	0	0	0	0	0	1	5815	535	19	1		1	FER1L6	8	125078740	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	279183	125078740	21285282	827	127759											
MTSS1	9788	broad.mit.edu	37	chr8	125565518	125565518	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccgctccacattgaggaGggcatgctggtgacaccttg	14	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:125565518G>T	uc003yrk.2	-	14	2517	c.1983C>A	c.(1981-1983)CCC>CCA	p.P661P	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.P310P|MTSS1_uc011lin.1_Silent_p.P435P|MTSS1_uc011lio.1_Silent_p.P551P|MTSS1_uc003yri.2_Silent_p.P379P|MTSS1_uc003yrj.2_Silent_p.P636P|MTSS1_uc003yrl.2_Silent_p.P665P	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	661	Pro-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			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACATTGAGGAGGGCATGCTGG	0.622													T	125565518	G	T	125565518	2	4	257	1	0	0	0	0	0	0	0	1	9962	987	35	5		5	MTSS1	8	125565518	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	486778	125565518	20798504	828	127760											
KIAA0196	9897	broad.mit.edu	37	chr8	126088707	126088707	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttggtttgccagggcTgtgctgcgatgctccggcaa	15	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:126088707T>G	uc003yrt.2	-	7	1076	c.747A>C	c.(745-747)ACA>ACC	p.T249T	KIAA0196_uc011lir.1_Silent_p.T101T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	249					cell death	WASH complex				ovary(2)	2	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)			TTGCCAGGGCTGTGCTGCGAT	0.488													G	126088707	T	G	126088707	2	3	257	1	0	0	0	0	0	0	0	1	8161	1567	55	5		5	KIAA0196	8	126088707	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	523189	126088707	20275315	829	127761											
GSDMC	56169	broad.mit.edu	37	chr8	130789698	130789698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgttcccaaaatgatgaacGagaatccttcttctttcgta	6	9	2	3	rs140640562	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:130789698G>A	uc003ysr.2	-	2	1018	c.136C>T	c.(136-138)CGT>TGT	p.R46C		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	46						mitochondrion				ovary(2)|skin(1)	3						AATGATGAACGAGAATCCTTC	0.418													A	130789698	G	A	130789698	3	1	257	1	0	0	0	0	1	0	0	0	6818	1058	37	1	1442	1	GSDMC	8	130789698	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4700991	130789698	15574324	830	127762											
KCNQ3	3786	broad.mit.edu	37	chr8	133492426	133492426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagcagcgcccagccccgCggtctctccagggcgtcgta	12	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:133492426C>T	uc003ytj.2	-	1	579	c.354G>A	c.(352-354)CCG>CCA	p.P118P	KCNQ3_uc010mdt.2_Silent_p.P118P	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	118					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCAGCCCCGCGGTCTCTCCA	0.522													T	133492426	C	T	133492426	2	4	257	1	0	0	0	0	0	0	0	1	8084	755	27	1		1	KCNQ3	8	133492426	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2702728	133492426	12871596	831	127763											
LRRC6	23639	broad.mit.edu	37	chr8	133623587	133623587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttggttgcacatcaacatCgattaaagaggtatccatat	8	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:133623587C>T	uc003ytk.2	-	9	1071	c.997G>A	c.(997-999)GAT>AAT	p.D333N	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	333	CS.					cytoplasm				ovary(1)|kidney(1)	2	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)			ACATCAACATCGATTAAAGAG	0.299													T	133623587	C	T	133623587	3	4	257	1	0	0	0	0	1	0	0	0	9016	884	31	1	419	1	LRRC6	8	133623587	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	131161	133623587	12740435	832	127764											
SLA	6503	broad.mit.edu	37	chr8	134063100	134063100	+	Frame_Shift_Del	DEL	G	G	-													tctcccctcggcggaatatcGgggggctgatgtcaggagac					rs143198289		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:134063099_134063099CG>C	uc011ljd.2	-	1	321	c.243_243CG>G	c.(241-243)ccgfs	p.P81fs	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Del_p.P41fs|SLA_uc011lje.2_Frame_Shift_Del_p.P58fs|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Frame_Shift_Del_p.P58fs|SLA_uc010mdy.1_Frame_Shift_Del_p.P41fs|SLA_uc010mdz.1_Frame_Shift_Del_p.P41fs|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	41	SH3.					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)			GGCGGAATATCGGGGGGCTGA	0.527													-	134063100	G	-	134063100	7	5	257	1	0	1	0	1	0	0	0	0	14363	1116	39	0	732	0	SLA	8	134063100	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	439513	134063100	12300922	833	127765											
SLA	6503	broad.mit.edu	37	chr8	134072364	134072364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccgggttgggcaggggCctctcggcaggcgcaggggt	19	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:134072364C>T	uc003ytz.2	-	3	874	c.42G>A	c.(40-42)AGG>AGA	p.R14R	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.R31R|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Silent_p.R31R|SLA_uc010mdy.1_Silent_p.R14R|SLA_uc010mdz.1_Silent_p.R14R|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Silent_p.R54R	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	14						endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	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)			TGGGCAGGGGCCTCTCGGCAG	0.582													T	134072364	C	T	134072364	2	4	257	1	0	0	0	0	0	0	0	1	14363	738	26	2		2	SLA	8	134072364	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	9264	134072364	12291658	834	127766											
NDRG1	10397	broad.mit.edu	37	chr8	134256618	134256618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagatctgcgggaggcCgccacagtccgccatctagg	15	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:134256618C>T	uc003yuh.2	-	14	1457	c.871G>A	c.(871-873)GGC>AGC	p.G291S	NDRG1_uc003yue.1_Missense_Mutation_p.G6S|NDRG1_uc003yuf.1_Missense_Mutation_p.G102S|NDRG1_uc003yug.2_Missense_Mutation_p.G291S|NDRG1_uc010mee.2_Missense_Mutation_p.G210S|NDRG1_uc010mef.2_Missense_Mutation_p.G225S|NDRG1_uc011ljh.1_Missense_Mutation_p.G119S|NDRG1_uc011lji.1_Missense_Mutation_p.G38S|NDRG1_uc003yui.1_5'Flank	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	291					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	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)			TGCGGGAGGCCGCCACAGTCC	0.557													T	134256618	C	T	134256618	3	4	257	1	0	0	0	0	1	0	0	0	10251	652	23	1	325	1	NDRG1	8	134256618	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	184254	134256618	12107404	835	127767											
ZFAT	57623	broad.mit.edu	37	chr8	135614640	135614640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcctggtacttggtgGccccatggccacagagctca	12	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:135614640G>A	uc003yup.2	-	6	1497	c.1322C>T	c.(1321-1323)GCC>GTC	p.A441V	ZFAT_uc003yun.2_Missense_Mutation_p.A429V|ZFAT_uc003yuo.2_Missense_Mutation_p.A429V|ZFAT_uc010meh.2_Missense_Mutation_p.A429V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A429V|ZFAT_uc010mej.2_Missense_Mutation_p.A379V|ZFAT_uc003yur.2_Missense_Mutation_p.A429V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	441	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			GTACTTGGTGGCCCCATGGCC	0.592													A	135614640	G	A	135614640	3	1	257	1	0	0	0	0	1	0	0	0	17629	1203	42	2	2453	2	ZFAT	8	135614640	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1358022	135614640	10749382	836	127768											
FAM135B	51059	broad.mit.edu	37	chr8	139155273	139155273	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctaattcgggatatggagAggttgtacaactgaatgtgt	12	5	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:139155273A>T	uc003yuy.2	-	16	3791	c.3620T>A	c.(3619-3621)CTC>CAC	p.L1207H	FAM135B_uc003yux.2_Missense_Mutation_p.L1108H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L769H|FAM135B_uc003yvb.2_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1207										ovary(7)|skin(2)	9	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)			GGATATGGAGAGGTTGTACAA	0.398										HNSCC(54;0.14)			T	139155273	A	T	139155273	3	4	257	1	0	0	0	0	1	0	0	0	5449	304	11	5	620	5	FAM135B	8	139155273	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	3540633	139155273	7208749	837	127769											
KCNK9	51305	broad.mit.edu	37	chr8	140630972	140630972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctaaaggccacgtagagCggcttcttctgcagggcacc	12	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:140630972C>T	uc003yvf.1	-	2	718	c.654G>A	c.(652-654)CCG>CCA	p.P218P	KCNK9_uc003yvg.1_Silent_p.P218P|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	218	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	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)			CCACGTAGAGCGGCTTCTTCT	0.557													T	140630972	C	T	140630972	2	4	257	1	0	0	0	0	0	0	0	1	8072	755	27	1		1	KCNK9	8	140630972	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1475699	140630972	5733050	838	127770											
TRAPPC9	83696	broad.mit.edu	37	chr8	141297705	141297705	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgaagggactctccttAccgttcacagtaatcgttcc	8	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141297705A>G	uc003yvj.2	-	13	2115	c.1981_splice	c.e13+1	p.G661_splice	TRAPPC9_uc003yvh.2_Splice_Site_p.G759_splice|TRAPPC9_uc010mel.1_Splice_Site_p.G82_splice|TRAPPC9_uc003yvi.1_Splice_Site_p.G652_splice	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform						cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						GACTCTCCTTACCGTTCACAG	0.592													G	141297705	A	G	141297705	5	3	257	1	0	0	0	0	0	0	1	0	16462	405	14	3	1507	3	TRAPPC9	8	141297705	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	666733	141297705	5066317	839	127771											
EIF2C2	27161	broad.mit.edu	37	chr8	141557663	141557665	+	In_Frame_Del	DEL	TTC	TTC	-													gtggcgtggtcctctgcacgTtcttcatctgcacgcactgc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141557662_141557664GTTC>G	uc003yvn.3	-	12	1692_1694	c.1651_1653GAAC>C	c.(1651-1653)aac>C	p.N551del	EIF2C2_uc010meo.3_In_Frame_Del_p.N551del|EIF2C2_uc010men.3_In_Frame_Del_p.N474del	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	551	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TCCTCTGCACGTTCTTCATCTGC	0.626													-	141557665	TTC	-	141557663	7	5	257	1	0	1	0	1	0	0	0	0	5006	1725	60	0	955	0	EIF2C2	8	141557663	In_Frame_Del	DEL	TTC	TCGA-HU-8602-01A-11D-2394-08	259958	141557663	4806359	840	127772											
PTK2	5747	broad.mit.edu	37	chr8	141678425	141678425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggattttactggacatctcGatgacagctttcaccaggcc	9	11	2	1	rs141828978	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141678425G>A	uc003yvu.2	-	30	3038	c.2808C>T	c.(2806-2808)ATC>ATT	p.I936I	PTK2_uc011ljp.1_Silent_p.I244I|PTK2_uc003yvo.2_Silent_p.I564I|PTK2_uc011ljq.1_Silent_p.I634I|PTK2_uc003yvp.2_Silent_p.I604I|PTK2_uc003yvq.2_Silent_p.I441I|PTK2_uc003yvr.2_Silent_p.I879I|PTK2_uc003yvs.2_Silent_p.I890I|PTK2_uc003yvt.2_Silent_p.I958I|PTK2_uc003yvv.2_Silent_p.I839I|PTK2_uc011ljr.1_Silent_p.I949I	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	936	Interaction with TGFB1I1.|Interaction with RGNEF (By similarity).				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			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	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)			TGGACATCTCGATGACAGCTT	0.498											OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	141678425	G	A	141678425	2	1	257	1	0	0	0	0	0	0	0	1	12762	1048	37	1		1	PTK2	8	141678425	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	120762	141678425	4685597	841	127773											
PTK2	5747	broad.mit.edu	37	chr8	141727703	141727703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgtagctaccttgggCggtgcttcatcagaccctcc	12	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141727703C>T	uc003yvu.2	-	23	2366	c.2136G>A	c.(2134-2136)CCG>CCA	p.P712P	PTK2_uc011ljp.1_Silent_p.P20P|PTK2_uc003yvo.2_Silent_p.P340P|PTK2_uc011ljq.1_Silent_p.P407P|PTK2_uc003yvp.2_Silent_p.P380P|PTK2_uc003yvq.2_Silent_p.P238P|PTK2_uc003yvr.2_Silent_p.P652P|PTK2_uc003yvs.2_Silent_p.P712P|PTK2_uc003yvt.2_Silent_p.P734P|PTK2_uc003yvv.2_Silent_p.P612P|PTK2_uc011ljr.1_Silent_p.P712P	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	712	Pro-rich.|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	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)			CTACCTTGGGCGGTGCTTCAT	0.507													T	141727703	C	T	141727703	2	4	257	1	0	0	0	0	0	0	0	1	12762	755	27	1		1	PTK2	8	141727703	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	49278	141727703	4636319	842	127774											
SLC45A4	57210	broad.mit.edu	37	chr8	142229029	142229031	+	In_Frame_Del	DEL	AAG	AAG	-													ccgtgaagatgatggcggcaAagaagaagagcacctggttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:142229028_142229030AAAG>A	uc003ywd.1	-	3	864_866	c.556_558CTTT>T	c.(556-558)ttt>T	p.F186del	SLC45A4_uc003ywc.1_In_Frame_Del_p.F186del|SLC45A4_uc010meq.1_In_Frame_Del_p.F184del	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	237					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)			TGATGGCGGCAAAGAAGAAGAGC	0.66													-	142229031	AAG	-	142229029	7	5	257	1	0	1	0	1	0	0	0	0	14643	14	1	0	1859	0	SLC45A4	8	142229029	In_Frame_Del	DEL	AAG	TCGA-HU-8602-01A-11D-2394-08	501326	142229029	4134993	843	127775											
ZC3H3	23144	broad.mit.edu	37	chr8	144589967	144589967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcagagacagggggaagGgcggggcgctgagaggcgag	24	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144589967G>T	uc003yyd.2	-	4	1693	c.1664C>A	c.(1663-1665)CCC>CAC	p.P555H		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	555					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			CAGGGGGAAGGGCGGGGCGCT	0.667													T	144589967	G	T	144589967	3	4	257	1	0	0	0	0	1	0	0	0	17566	1232	43	5	1218	5	ZC3H3	8	144589967	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2360938	144589967	1774055	844	127776											
MAPK15	225689	broad.mit.edu	37	chr8	144804319	144804319	+	Frame_Shift_Del	DEL	G	G	-													tctgccttgcagggtgcccaGgggggtgccagggctttgct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144804318_144804318AG>A	uc003yzj.3	+	13	1573	c.1532_1532AG>A	c.(1531-1533)cagfs	p.Q511fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	511					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CAGGGTGCCCAGGGGGGTGCC	0.667													-	144804319	G	-	144804319	7	5	257	1	0	1	0	1	0	0	0	0	9277	991	35	0	1587	0	MAPK15	8	144804319	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	214352	144804319	1559703	845	127777											
SCRIB	23513	broad.mit.edu	37	chr8	144874388	144874388	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccccacacaggggctcAcctggctgccctccacagcg	11	19	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144874388A>G	uc003yzp.1	-	32	4521	c.4514_splice	c.e32+1	p.R1505_splice	SCRIB_uc003yzn.1_Splice_Site_p.R238_splice|SCRIB_uc003yzo.1_Splice_Site_p.R1505_splice	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b						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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACAGGGGCTCACCTGGCTGCC	0.701													G	144874388	A	G	144874388	5	3	257	1	0	0	0	0	0	0	1	0	13937	173	6	3	475	3	SCRIB	8	144874388	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	70069	144874388	1489634	846	127778											
SCRIB	23513	broad.mit.edu	37	chr8	144877247	144877247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcacggcggccagggcGcggtagtccagcttcagggg	19	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144877247G>A	uc003yzp.1	-	27	3814	c.3807C>T	c.(3805-3807)CGC>CGT	p.R1269R	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.R1269R	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1269					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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGCCAGGGCGCGGTAGTCCA	0.697													A	144877247	G	A	144877247	2	1	257	1	0	0	0	0	0	0	0	1	13937	1074	38	1		1	SCRIB	8	144877247	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2859	144877247	1486775	847	127779											
SCRIB	23513	broad.mit.edu	37	chr8	144886086	144886086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaacccgcaggccgctgcGagcggccaggccccgcggga	15	19	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144886086G>A	uc003yzp.1	-	23	3152	c.3145C>T	c.(3145-3147)CGC>TGC	p.R1049C	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1049C	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1049	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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGCCGCTGCGAGCGGCCAGG	0.706													A	144886086	G	A	144886086	3	1	257	1	0	0	0	0	1	0	0	0	13937	1058	37	1	1882	1	SCRIB	8	144886086	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	8839	144886086	1477936	848	127780											
PUF60	22827	broad.mit.edu	37	chr8	144898887	144898887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggtagatgatgacgcGgttcacggccccgaacttgc	12	12	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144898887G>T	uc003yzs.2	-	12	1547	c.1483C>A	c.(1483-1485)CGC>AGC	p.R495S	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.R435S|PUF60_uc003yzt.2_Missense_Mutation_p.R478S|PUF60_uc003yzq.2_Missense_Mutation_p.R452S	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	495	RRM 3; atypical.|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				0	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)			ATGATGACGCGGTTCACGGCC	0.517													T	144898887	G	T	144898887	3	4	257	1	0	0	0	0	1	0	0	0	12824	1116	39	5	200	5	PUF60	8	144898887	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	12801	144898887	1465135	849	127781											
EPPK1	83481	broad.mit.edu	37	chr8	144940071	144940081	+	Splice_Site	DEL	AAAAAAAAAAC	AAAAAAAAAAC	-													aacaaaattaaagaatgacaAaaaaaaaaacaaaaaaaaaa					rs72444649		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144940071_144940081delAAAAAAAAAAC	uc003zaa.1	-	3	15358	c.15345_splice	c.e3-1			NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1							cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			aagaatgacaaaaaaaaaaacaaaaaaaaaa	0.346													-	144940081	AAAAAAAAAAC	-	144940071	8	5	257	1	0	1	0	1	0	0	1	0	5190	29	1	0		0	EPPK1	8	144940071	Splice_Site	DEL	AAAAAAAAAAC	TCGA-HU-8602-01A-11D-2394-08	41184	144940071	1423951	850	127782											
EPPK1	83481	broad.mit.edu	37	chr8	144942560	144942560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccacggtcagcttcCggttctccacggggtcgatg	11	16	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144942560C>T	uc003zaa.1	-	1	4875	c.4862G>A	c.(4861-4863)CGG>CAG	p.R1621Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1621	Plectin 27.					cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R1621W(1)		pancreas(1)|skin(1)	2	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)			GGTCAGCTTCCGGTTCTCCAC	0.642													T	144942560	C	T	144942560	3	4	257	1	0	0	0	0	1	0	0	0	5190	652	23	1	2404	1	EPPK1	8	144942560	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2489	144942560	1421462	851	127783											
PLEC	5339	broad.mit.edu	37	chr8	144990983	144990983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccaggcccttgttgaCggcgtcggtgacagggaagc	15	12	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144990983C>T	uc003zaf.1	-	32	13587	c.13417G>A	c.(13417-13419)GTC>ATC	p.V4473I	PLEC_uc003zab.1_Missense_Mutation_p.V4336I|PLEC_uc003zac.1_Missense_Mutation_p.V4340I|PLEC_uc003zad.2_Missense_Mutation_p.V4336I|PLEC_uc003zae.1_Missense_Mutation_p.V4304I|PLEC_uc003zag.1_Missense_Mutation_p.V4314I|PLEC_uc003zah.2_Missense_Mutation_p.V4322I|PLEC_uc003zaj.2_Missense_Mutation_p.V4363I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4473	Globular 2.|Plectin 30.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCCTTGTTGACGGCGTCGGTG	0.647													T	144990983	C	T	144990983	3	4	257	1	0	0	0	0	1	0	0	0	12052	536	19	1	641	1	PLEC	8	144990983	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	48423	144990983	1373039	852	127784											
PLEC	5339	broad.mit.edu	37	chr8	145006333	145006333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgggtggtcctcccgcaGcagccggtccccagcatttt	13	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145006333G>A	uc003zaf.1	-	17	2628	c.2458C>T	c.(2458-2460)CTG>TTG	p.L820L	PLEC_uc003zab.1_Silent_p.L683L|PLEC_uc003zac.1_Silent_p.L687L|PLEC_uc003zad.2_Silent_p.L683L|PLEC_uc003zae.1_Silent_p.L651L|PLEC_uc003zag.1_Silent_p.L661L|PLEC_uc003zah.2_Silent_p.L669L|PLEC_uc003zaj.2_Silent_p.L710L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	820	Spectrin 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCCTCCCGCAGCAGCCGGTCC	0.507													A	145006333	G	A	145006333	2	1	257	1	0	0	0	0	0	0	0	1	12052	962	34	2		2	PLEC	8	145006333	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	15350	145006333	1357689	853	127785											
PARP10	84875	broad.mit.edu	37	chr8	145057410	145057410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtgccaccaagtggcGggcagcacgggcagggtggg	19	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145057410G>A	uc003zal.3	-	8	2455	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C	PARP10_uc003zak.3_Missense_Mutation_p.R480C|PARP10_uc011lku.1_Missense_Mutation_p.R795C|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Missense_Mutation_p.R774C	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	783	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			ACCAAGTGGCGGGCAGCACGG	0.657													A	145057410	G	A	145057410	3	1	257	1	0	0	0	0	1	0	0	0	11455	1116	39	1	746	1	PARP10	8	145057410	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	51077	145057410	1306612	854	127786											
EXOSC4	54512	broad.mit.edu	37	chr8	145135191	145135191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcttgtgtgaatgcagCcacgctggcagtgctggatg	15	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145135191C>T	uc003zau.2	+	3	535	c.425C>T	c.(424-426)GCC>GTC	p.A142V	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	142					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGAATGCAGCCACGCTGGCA	0.602													T	145135191	C	T	145135191	3	4	257	1	0	0	0	0	1	0	0	0	5317	739	26	2	435	2	EXOSC4	8	145135191	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	77781	145135191	1228831	855	127787											
HEATR7A	727957	broad.mit.edu	37	chr8	145245797	145245797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgacatcttcagcgcctacGatgttctcttccatcagtgg	8	14	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145245797G>A	uc003zbk.3	+	8	910	c.673G>A	c.(673-675)GAT>AAT	p.D225N	HEATR7A_uc003zbg.2_Missense_Mutation_p.D225N|HEATR7A_uc003zbh.3_Missense_Mutation_p.D225N|HEATR7A_uc003zbi.3_Missense_Mutation_p.D225N|HEATR7A_uc011lla.1_Missense_Mutation_p.D225N|HEATR7A_uc010mft.2_Missense_Mutation_p.D225N	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	225							binding				0						CAGCGCCTACGATGTTCTCTT	0.612													A	145245797	G	A	145245797	3	1	257	1	0	0	0	0	1	0	0	0	7034	1058	37	1	695	1	HEATR7A	8	145245797	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	110606	145245797	1118225	856	127788											
ADCK5	203054	broad.mit.edu	37	chr8	145616432	145616432	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgccagcctggcacaggtGcacagagccaagctgcacga	13	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145616432G>T	uc003zch.2	+	6	696	c.642G>T	c.(640-642)GTG>GTT	p.V214V	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	214	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	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)			TGGCACAGGTGCACAGAGCCA	0.622													T	145616432	G	T	145616432	2	4	257	1	0	0	0	0	0	0	0	1	291	1306	46	5		5	ADCK5	8	145616432	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	370635	145616432	747590	857	127789											
SLC39A4	55630	broad.mit.edu	37	chr8	145640283	145640283	+	Splice_Site	DEL	G	G	-													cctggcactcaggcatacctGgggggtggcaggacaggctc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145640282_145640282TG>T	uc003zcq.3	-	5	905	c.805_splice	c.e5-1	p.V269_splice	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Splice_Site_p.V244_splice	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	269						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)			CAGGCATACCTGGGGGGTGGC	0.672													-	145640283	G	-	145640283	8	5	257	1	0	1	0	1	0	0	1	0	14620	1363	47	0		0	SLC39A4	8	145640283	Splice_Site	DEL	G	TCGA-HU-8602-01A-11D-2394-08	23851	145640283	723739	858	127790											
ZNF517	340385	broad.mit.edu	37	chr8	146032665	146032665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcaccgtgtgggggtgcCtcccctgggggcaccctgtg	18	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:146032665C>A	uc003zed.1	+	5	471	c.364C>A	c.(364-366)CTC>ATC	p.L122I	ZNF517_uc010mgd.1_Missense_Mutation_p.L28I|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.L28I|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			GTGGGGGTGCCTCCCCTGGGG	0.677													A	146032665	C	A	146032665	3	1	257	1	0	0	0	0	1	0	0	0	17958	681	24	5	378	5	ZNF517	8	146032665	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	392382	146032665	331357	859	127791											
KANK1	23189	broad.mit.edu	37	chr9	742369	742369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagattgtcaagctgctgctGgcccagcccggctgcaacgg	14	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:742369G>A	uc003zgl.1	+	14	4510	c.3861G>A	c.(3859-3861)CTG>CTA	p.L1287L	KANK1_uc003zgn.1_Silent_p.L1287L|KANK1_uc003zgs.1_Silent_p.L1129L|KANK1_uc010mgx.1_Silent_p.L265L|KANK1_uc010mgy.1_Silent_p.L199L|KANK1_uc003zgt.1_Silent_p.L199L	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1287	ANK 4.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		AGCTGCTGCTGGCCCAGCCCG	0.637													A	742369	G	A	742369	2	1	257	1	0	0	0	0	0	0	0	1	7976	1335	47	4		4	KANK1	9	742369	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08		742369	140471062	860	127792											
DMRT3	58524	broad.mit.edu	37	chr9	977137	977137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctcaagggccacaagCgttactgccgcttcaaggac	11	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:977137C>T	uc003zgw.1	+	1	174	c.136C>T	c.(136-138)CGT>TGT	p.R46C		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	46	DM.				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGGCCACAAGCGTTACTGCCG	0.706													T	977137	C	T	977137	3	4	257	1	0	0	0	0	1	0	0	0	4587	768	27	1	138	1	DMRT3	9	977137	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	234768	977137	140236294	861	127793											
GLIS3	169792	broad.mit.edu	37	chr9	3856161	3856161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggggctgatgtggtgaGgagatggagcagaaggtgca	20	5	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:3856161G>A	uc003zhw.1	-	8	2050	c.1856C>T	c.(1855-1857)CCT>CTT	p.P619L	GLIS3_uc003zhx.1_Missense_Mutation_p.P774L|GLIS3_uc010mhf.1_Missense_Mutation_p.P168L|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.P552L	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	619					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			ovary(1)	1		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)		GATGTGGTGAGGAGATGGAGC	0.468													A	3856161	G	A	3856161	3	1	257	1	0	0	0	0	1	0	0	0	6447	1000	35	4	483	4	GLIS3	9	3856161	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2879024	3856161	137357270	862	127794											
RLN1	6013	broad.mit.edu	37	chr9	5339637	5339637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgcgcgaactaattcgCggccgcataatttaataaca	8	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:5339637C>T	uc003zjb.1	-	1	237	c.110G>A	c.(109-111)CGC>CAC	p.R37H		NM_006911	NP_008842	P04808	REL1_HUMAN	relaxin 1 preproprotein	37					female pregnancy|signal transduction	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AACTAATTCGCGGCCGCATAA	0.498													T	5339637	C	T	5339637	3	4	257	1	0	0	0	0	1	0	0	0	13391	768	27	1	455	1	RLN1	9	5339637	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1483476	5339637	135873794	863	127795											
C9orf150	286343	broad.mit.edu	37	chr9	12821554	12821554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcagagcacctccttacGtggcagctacaacagcctac	9	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:12821554G>A	uc003zkw.2	+	2	1185	c.482G>A	c.(481-483)CGT>CAT	p.R161H		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	164											0				GBM - Glioblastoma multiforme(1;1.64e-13)		ACCTCCTTACGTGGCAGCTAC	0.542													A	12821554	G	A	12821554	3	1	257	1	0	0	0	0	1	0	0	0	2462	1145	40	1	488	1	C9orf150	9	12821554	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7481917	12821554	128391877	864	127796											
CNTLN	54875	broad.mit.edu	37	chr9	17135073	17135073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcagccatggcggcgCgttcgcctccctcaccgcac	11	20	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:17135073C>T	uc003zmz.2	+	1	36	c.10C>T	c.(10-12)CGT>TGT	p.R4C	CNTLN_uc003zmx.3_Missense_Mutation_p.R4C|CNTLN_uc003zmy.2_Missense_Mutation_p.R4C|CNTLN_uc003zmw.1_Missense_Mutation_p.R4C	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	4						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CATGGCGGCGCGTTCGCCTCC	0.687													T	17135073	C	T	17135073	3	4	257	1	0	0	0	0	1	0	0	0	3639	768	27	1	12	1	CNTLN	9	17135073	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4313519	17135073	124078358	865	127797											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777173	18777173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggaagaggtgcttgcGgggaggaagggcggcccgaa	21	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:18777173G>A	uc003zne.3	+	19	3073	c.2946G>A	c.(2944-2946)GCG>GCA	p.A982A		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	982						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGTGCTTGCGGGGAGGAAGG	0.667													A	18777173	G	A	18777173	2	1	257	1	0	0	0	0	0	0	0	1	274	1103	39	1		1	ADAMTSL1	9	18777173	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1642100	18777173	122436258	866	127798											
IFT74	80173	broad.mit.edu	37	chr9	26984355	26984355	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcatatgaaaagaggTgagtaataagtattcagtat	9	2	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:26984355T>C	uc010mja.2	+	5	531	c.404_splice	c.e5+2	p.R135_splice	IFT74_uc010mjb.2_Splice_Site_p.R135_splice|IFT74_uc003zqf.3_Splice_Site_p.R135_splice|IFT74_uc003zqg.3_Splice_Site_p.R135_splice	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TGAAAAGAGGTGAGTAATAAG	0.259													C	26984355	T	C	26984355	5	2	257	1	0	0	0	0	0	0	1	0	7563	1710	59	3	420	3	IFT74	9	26984355	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	8207182	26984355	114229076	867	127799											
UBAP2	55833	broad.mit.edu	37	chr9	33996302	33996302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggccactatgcattcAtcctgatttttccctgtcac	7	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:33996302A>G	uc003ztq.1	-	4	320	c.207T>C	c.(205-207)GAT>GAC	p.D69D	UBAP2_uc011loc.1_Silent_p.D31D|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Intron|UBAP2_uc011log.1_Silent_p.D68D|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	69	UBA.									ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTATGCATTCATCCTGATTTT	0.348													G	33996302	A	G	33996302	2	3	257	1	0	0	0	0	0	0	0	1	16834	214	8	3		3	UBAP2	9	33996302	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	7011947	33996302	107217129	868	127800											
DCAF12	25853	broad.mit.edu	37	chr9	34098435	34098435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcatacacagggacccGtgacacattgtgtctcgcat	11	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:34098435G>A	uc003ztt.2	-	5	1024	c.682C>T	c.(682-684)CGG>TGG	p.R228W		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	228						centrosome|CUL4 RING ubiquitin ligase complex					0						ACAGGGACCCGTGACACATTG	0.517													A	34098435	G	A	34098435	3	1	257	1	0	0	0	0	1	0	0	0	4263	1144	40	1	699	1	DCAF12	9	34098435	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	102133	34098435	107114996	869	127801											
DNAI1	27019	broad.mit.edu	37	chr9	34491509	34491509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggatcgagaatgccagaCggagcctcctcccaggacaa	11	12	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:34491509C>T	uc003zum.2	+	8	831	c.638C>T	c.(637-639)ACG>ATG	p.T213M		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	213					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GAATGCCAGACGGAGCCTCCT	0.483									Kartagener_syndrome				T	34491509	C	T	34491509	3	4	257	1	0	0	0	0	1	0	0	0	4609	536	19	1	668	1	DNAI1	9	34491509	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	393074	34491509	106721922	870	127802											
GALT	2592	broad.mit.edu	37	chr9	34648866	34648866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcatgtgcggcggctaccTgagctgacccctgctgagcg	15	14	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:34648866T>C	uc003zve.2	+	8	862	c.795T>C	c.(793-795)CCT>CCC	p.P265P	GALT_uc003zvf.2_Silent_p.P156P|GALT_uc003zvg.2_Silent_p.P137P|GALT_uc003zvh.2_Silent_p.P217P|GALT_uc011lop.1_Silent_p.P217P|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	265					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGCGGCTACCTGAGCTGACCC	0.612									Galactosemia				C	34648866	T	C	34648866	2	2	257	1	0	0	0	0	0	0	0	1	6230	1567	55	3		3	GALT	9	34648866	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	157357	34648866	106564565	871	127803											
KIAA1539	80256	broad.mit.edu	37	chr9	35108148	35108148	+	Frame_Shift_Del	DEL	C	C	-													gtagaccccgggggatgtcgCcccccctgctgggctgtagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:35108148delC	uc003zwl.2	-	3	449	c.124delG	c.(124-126)GCGfs	p.A42fs	KIAA1539_uc003zwm.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.A42fs|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGATGTCGCCCCCCCTGCT	0.657													-	35108148	C	-	35108148	7	5	257	1	0	1	0	1	0	0	0	0	8242	739	26	0	1520	0	KIAA1539	9	35108148	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	459282	35108148	106105283	872	127804											
TLN1	7094	broad.mit.edu	37	chr9	35719202	35719202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagcagcttcaccccacGggacatctccgtcaggttgg	11	15	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:35719202G>A	uc003zxt.2	-	16	2119	c.1765C>T	c.(1765-1767)CGT>TGT	p.R589C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	589					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACCCCACGGGACATCTCC	0.607													A	35719202	G	A	35719202	3	1	257	1	0	0	0	0	1	0	0	0	15944	1116	39	1	6028	1	TLN1	9	35719202	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	611054	35719202	105494229	873	127805											
RNF38	152006	broad.mit.edu	37	chr9	36357922	36357922	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttactgtgtaagaaacaggGactgttccttgatggagctt	12	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:36357922G>A	uc003zzh.2	-	5	779	c.588C>T	c.(586-588)GTC>GTT	p.V196V	RNF38_uc003zzi.2_Silent_p.V146V|RNF38_uc003zzj.2_Silent_p.V113V|RNF38_uc003zzk.2_Silent_p.V113V|RNF38_uc003zzl.2_Silent_p.V120V|RNF38_uc003zzm.2_Silent_p.V113V	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	196							zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			AAGAAACAGGGACTGTTCCTT	0.403													A	36357922	G	A	36357922	2	1	257	1	0	0	0	0	0	0	0	1	13490	1161	41	4		4	RNF38	9	36357922	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	638720	36357922	104855509	874	127806											
MELK	9833	broad.mit.edu	37	chr9	36671000	36671000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttttgtttcaggtgccGctcagtggaattggatctca	11	7	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:36671000G>A	uc003zzn.2	+	16	1649	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	MELK_uc011lpm.1_Missense_Mutation_p.R373H|MELK_uc011lpn.1_Missense_Mutation_p.R463H|MELK_uc011lpo.1_Missense_Mutation_p.R310H|MELK_uc010mll.2_Missense_Mutation_p.R472H|MELK_uc011lpp.1_Missense_Mutation_p.R456H|MELK_uc010mlm.2_Missense_Mutation_p.R433H|MELK_uc011lpq.1_Missense_Mutation_p.R310H|MELK_uc011lpr.1_Missense_Mutation_p.R433H|MELK_uc011lps.1_Missense_Mutation_p.R424H	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	504						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTCAGGTGCCGCTCAGTGGAA	0.488													A	36671000	G	A	36671000	3	1	257	1	0	0	0	0	1	0	0	0	9470	1087	38	1	1569	1	MELK	9	36671000	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	313078	36671000	104542431	875	127807											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	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			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	257	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	34322145	70993145	70220286	876	127808											
TJP2	9414	broad.mit.edu	37	chr9	71831301	71831301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtccggaggcagagacaAcccccactttgaaaatggag	12	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:71831301A>C	uc004ahe.2	+	3	361	c.161A>C	c.(160-162)AAC>ACC	p.N54T	TJP2_uc011lrs.1_Missense_Mutation_p.N31T|TJP2_uc004ahb.1_Missense_Mutation_p.N31T|TJP2_uc011lrt.1_Missense_Mutation_p.N31T|TJP2_uc004ahd.2_Missense_Mutation_p.N54T|TJP2_uc004ahf.2_Missense_Mutation_p.N54T|TJP2_uc011lru.1_Missense_Mutation_p.N58T|TJP2_uc011lrv.1_Missense_Mutation_p.N76T	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	54	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GGCAGAGACAACCCCCACTTT	0.488													C	71831301	A	C	71831301	3	2	257	1	0	0	0	0	1	0	0	0	15927	43	2	5	328	5	TJP2	9	71831301	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	838156	71831301	69382130	877	127809											
TJP2	9414	broad.mit.edu	37	chr9	71866280	71866280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaagcacagaatgcaagGgtaattgtttttaaactaca	9	6	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:71866280G>T	uc004ahe.2	+	21	3521	c.3321G>T	c.(3319-3321)AGG>AGT	p.R1107S	TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Missense_Mutation_p.R1074S|TJP2_uc011lrv.1_Missense_Mutation_p.R1129S|TJP2_uc010mom.1_Intron	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1107					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						AGAATGCAAGGGTAATTGTTT	0.418													T	71866280	G	T	71866280	3	4	257	1	0	0	0	0	1	0	0	0	15927	1246	43	5	3662	5	TJP2	9	71866280	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	34979	71866280	69347151	878	127810											
TRPM6	140803	broad.mit.edu	37	chr9	77353400	77353400	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccaacatcagctcctccAgggtgttggtgggggtgatt	14	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:77353400A>C	uc004ajl.1	-	36	5937	c.5699T>G	c.(5698-5700)CTG>CGG	p.L1900R	TRPM6_uc004ajk.1_Missense_Mutation_p.L1895R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.L851R|TRPM6_uc010mpd.1_Missense_Mutation_p.L733R|TRPM6_uc010mpe.1_Missense_Mutation_p.L447R|TRPM6_uc004ajj.1_Missense_Mutation_p.L856R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1900	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CAGCTCCTCCAGGGTGTTGGT	0.468													C	77353400	A	C	77353400	3	2	257	1	0	0	0	0	1	0	0	0	16587	188	7	5	385	5	TRPM6	9	77353400	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5487120	77353400	63860031	879	127811											
PRUNE2	158471	broad.mit.edu	37	chr9	79320305	79320305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtcaaaggcagcttcGcttatatccagacaagtgtc	10	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:79320305G>A	uc010mpk.2	-	8	7009	c.6885C>T	c.(6883-6885)AGC>AGT	p.S2295S	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2295					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AGGCAGCTTCGCTTATATCCA	0.468													A	79320305	G	A	79320305	2	1	257	1	0	0	0	0	0	0	0	1	12641	1078	38	1		1	PRUNE2	9	79320305	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1966905	79320305	61893126	880	127812											
RMI1	80010	broad.mit.edu	37	chr9	86617331	86617331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaagatcatcagagaataGcattaatctttctattgcca	5	7	4	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:86617331G>A	uc004anq.3	+	3	1838	c.1430G>A	c.(1429-1431)AGC>AAC	p.S477N	RMI1_uc004anr.3_Missense_Mutation_p.S477N|RMI1_uc004anp.3_Missense_Mutation_p.S477N|RMI1_uc004ans.3_Missense_Mutation_p.S477N	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	RMI1, RecQ mediated genome instability 1,	477					DNA replication	nucleus					0						TCAGAGAATAGCATTAATCTT	0.338													A	86617331	G	A	86617331	3	1	257	1	0	0	0	0	1	0	0	0	13395	971	34	2	1432	2	RMI1	9	86617331	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7297026	86617331	54596100	881	127813											
AGTPBP1	23287	broad.mit.edu	37	chr9	88257780	88257780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggaaaaggtgttcatAcatttttagatcttctattg	8	6	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:88257780A>G	uc011ltd.1	-	12	1297	c.1264T>C	c.(1264-1266)TAT>CAT	p.Y422H	AGTPBP1_uc004aod.3_Missense_Mutation_p.Y48H|AGTPBP1_uc011ltc.1_Missense_Mutation_p.Y320H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.Y382H|AGTPBP1_uc011lte.1_Missense_Mutation_p.Y434H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	422					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			ovary(4)|large_intestine(2)|skin(1)	7						AGGTGTTCATACATTTTTAGA	0.294													G	88257780	A	G	88257780	3	3	257	1	0	0	0	0	1	0	0	0	400	391	14	3	2472	3	AGTPBP1	9	88257780	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1640449	88257780	52955651	882	127814											
GAS1	2619	broad.mit.edu	37	chr9	89560899	89560899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtcatcgtagtcctcatCgtagtagtcgtccaggcccc	9	15	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:89560899C>T	uc004aox.3	-	1	1206	c.796G>A	c.(796-798)GAT>AAT	p.D266N	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	266					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						TAGTCCTCATCGTAGTAGTCG	0.731													T	89560899	C	T	89560899	3	4	257	1	0	0	0	0	1	0	0	0	6244	884	31	1	245	1	GAS1	9	89560899	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1303119	89560899	51652532	883	127815											
CDK20	23552	broad.mit.edu	37	chr9	90589374	90589374	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccatcccgctgcagtcGtgggcctgtgcccctgtgcc	13	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:90589374G>A	uc004apr.2	-	1	294	c.-12C>T	c.(-14--10)CACGA>CATGA		CDK20_uc004aps.2_Translation_Start_Site|CDK20_uc004apt.2_Translation_Start_Site|CDK20_uc004apu.2_Translation_Start_Site	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3						cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CGCTGCAGTCGTGGGCCTGTG	0.652													A	90589374	G	A	90589374	1	1	257	1	0	0	0	0	0	0	0	0	3137	1160	40	1		1	CDK20	9	90589374	Translation_Start_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1028475	90589374	50624057	884	127816											
ROR2	4920	broad.mit.edu	37	chr9	94495526	94495526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatgagcgggttggagCgggcgatggtgtactcctgg	20	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:94495526C>T	uc004arj.1	-	6	1014	c.815G>A	c.(814-816)CGC>CAC	p.R272H	ROR2_uc004ari.1_Missense_Mutation_p.R132H|ROR2_uc004ark.2_Missense_Mutation_p.R272H	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	272	FZ.|Extracellular (Potential).				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CGGGTTGGAGCGGGCGATGGT	0.677													T	94495526	C	T	94495526	3	4	257	1	0	0	0	0	1	0	0	0	13527	768	27	1	2032	1	ROR2	9	94495526	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3906152	94495526	46717905	885	127817											
FGD3	89846	broad.mit.edu	37	chr9	95784613	95784613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtcccttctagatcaCgagcaccagccctgtggagc	10	14	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:95784613C>T	uc004asw.2	+	14	2127	c.1499C>T	c.(1498-1500)ACG>ATG	p.T500M	FGD3_uc004asx.2_Missense_Mutation_p.T500M|FGD3_uc004asz.2_Missense_Mutation_p.T500M|FGD3_uc011luc.1_Missense_Mutation_p.T103M	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	500					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			ovary(1)|breast(1)	2						TTCTAGATCACGAGCACCAGC	0.637													T	95784613	C	T	95784613	3	4	257	1	0	0	0	0	1	0	0	0	5834	536	19	1	1545	1	FGD3	9	95784613	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1289087	95784613	45428818	886	127818											
NINJ1	4814	broad.mit.edu	37	chr9	95888893	95888893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatggttcacgttgatggGcccgtgcctccagccccagc	12	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:95888893G>A	uc004atg.3	-	2	174	c.103C>T	c.(103-105)CCC>TCC	p.P35S	NINJ1_uc004ath.3_5'UTR	NM_004148	NP_004139	Q92982	NINJ1_HUMAN	ninjurin 1	35	Extracellular (Potential).				cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)	1						ACGTTGATGGGCCCGTGCCTC	0.682													A	95888893	G	A	95888893	3	1	257	1	0	0	0	0	1	0	0	0	10418	1203	42	2	363	2	NINJ1	9	95888893	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	104280	95888893	45324538	887	127819											
PTCH1	5727	broad.mit.edu	37	chr9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-													ggtggccacaagccttctctGggggggtccctgcggggctg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					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.R1308G(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)				AAGCCTTCTCTGGGGGGGTCC	0.662													-	98209617	G	-	98209617	7	5	257	1	0	1	0	1	0	0	0	0	12730	1335	47	0	426	0	PTCH1	9	98209617	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	2320724	98209617	43003814	888	127820											
PTCH1	5727	broad.mit.edu	37	chr9	98215807	98215807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcatcagcactcccagCagagtggacacggcgccatc	11	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:98215807C>T	uc004avk.3	-	20	3590	c.3402G>A	c.(3400-3402)CTG>CTA	p.L1134L	PTCH1_uc010mro.2_Silent_p.L983L|PTCH1_uc010mrp.2_Silent_p.L983L|PTCH1_uc010mrq.2_Silent_p.L983L|PTCH1_uc004avl.3_Silent_p.L983L|PTCH1_uc010mrr.2_Silent_p.L1068L|PTCH1_uc004avm.3_Silent_p.L1133L	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1134	Helical; (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCACTCCCAGCAGAGTGGACA	0.547									Basal_Cell_Nevus_syndrome				T	98215807	C	T	98215807	2	4	257	1	0	0	0	0	0	0	0	1	12730	697	25	2		2	PTCH1	9	98215807	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6190	98215807	42997624	889	127821											
PTCH1	5727	broad.mit.edu	37	chr9	98239083	98239083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgtttcactgaaggcGtgggccagaagaaaaacatc	11	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:98239083G>A	uc004avk.3	-	11	1748	c.1560C>T	c.(1558-1560)CAC>CAT	p.H520H	PTCH1_uc010mro.2_Silent_p.H369H|PTCH1_uc010mrp.2_Silent_p.H369H|PTCH1_uc010mrq.2_Silent_p.H369H|PTCH1_uc004avl.3_Silent_p.H369H|PTCH1_uc010mrr.2_Silent_p.H454H|PTCH1_uc004avm.3_Silent_p.H519H|PTCH1_uc010mrs.1_Silent_p.H188H	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	520	SSD.|Helical; (Potential).				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.H520fs*4(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACTGAAGGCGTGGGCCAGAA	0.443									Basal_Cell_Nevus_syndrome				A	98239083	G	A	98239083	2	1	257	1	0	0	0	0	0	0	0	1	12730	1136	40	1		1	PTCH1	9	98239083	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	23276	98239083	42974348	890	127822											
ZNF782	158431	broad.mit.edu	37	chr9	99607190	99607190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccactgagacgaggtggcTgtagttctccagcatcacat	10	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:99607190T>C	uc004awp.1	-	4	405	c.124A>G	c.(124-126)AGC>GGC	p.S42G	ZNF782_uc011lup.1_Intron	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				ACGAGGTGGCTGTAGTTCTCC	0.542													C	99607190	T	C	99607190	3	2	257	1	0	0	0	0	1	0	0	0	18152	1580	55	3	1987	3	ZNF782	9	99607190	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1368107	99607190	41606241	891	127823											
TDRD7	23424	broad.mit.edu	37	chr9	100249529	100249529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggattatggcaaacaCgaattagtcaacataagaaa	9	6	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:100249529C>T	uc004axj.2	+	16	3216	c.2991C>T	c.(2989-2991)CAC>CAT	p.H997H	TDRD7_uc011lux.1_Silent_p.H923H|TDRD7_uc011luy.1_Silent_p.H317H	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	997	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				ATGGCAAACACGAATTAGTCA	0.428													T	100249529	C	T	100249529	2	4	257	1	0	0	0	0	0	0	0	1	15732	535	19	1		1	TDRD7	9	100249529	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	642339	100249529	40963902	892	127824											
ANKS6	203286	broad.mit.edu	37	chr9	101540525	101540525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccattgtctttggtcacaGgggccgcatcagggagtgca	13	11	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:101540525G>T	uc004ayu.2	-	7	1571	c.1550C>A	c.(1549-1551)CCT>CAT	p.P517H	ANKS6_uc004ayt.2_Missense_Mutation_p.P216H|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_Missense_Mutation_p.P99H|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	517										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TTTGGTCACAGGGGCCGCATC	0.557													T	101540525	G	T	101540525	3	4	257	1	0	0	0	0	1	0	0	0	692	1000	35	5	1101	5	ANKS6	9	101540525	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1290996	101540525	39672906	893	127825											
INVS	27130	broad.mit.edu	37	chr9	103002432	103002432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatgggaatgtgaccGtggttgatgtcttgacctca	13	7	2	4	rs150883233	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:103002432G>A	uc004bap.1	+	6	918	c.706G>A	c.(706-708)GTG>ATG	p.V236M	INVS_uc010mta.1_Missense_Mutation_p.V140M|INVS_uc011lve.1_Missense_Mutation_p.V140M|INVS_uc004bao.1_Missense_Mutation_p.V236M|INVS_uc004baq.1_Missense_Mutation_p.V140M|INVS_uc004bar.1_Missense_Mutation_p.V140M|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	236	ANK 7.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				GAATGTGACCGTGGTTGATGT	0.448													A	103002432	G	A	103002432	3	1	257	1	0	0	0	0	1	0	0	0	7787	1145	40	1	724	1	INVS	9	103002432	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1461907	103002432	38210999	894	127826											
KLF4	9314	broad.mit.edu	37	chr9	110249393	110249393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatcacaagtgtgggtggCggtccttttccggggccacg	15	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:110249393C>T	uc004bdh.2	-	3	1876	c.1255G>A	c.(1255-1257)GCC>ACC	p.A419T	KLF4_uc004bdf.1_Missense_Mutation_p.A344T|KLF4_uc004bdg.2_Missense_Mutation_p.A394T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	428					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			central_nervous_system(2)|lung(1)	3						GTGTGGGTGGCGGTCCTTTTC	0.592													T	110249393	C	T	110249393	3	4	257	1	0	0	0	0	1	0	0	0	8348	768	27	1	267	1	KLF4	9	110249393	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7246961	110249393	30964038	895	127827											
C9orf4	23732	broad.mit.edu	37	chr9	111899876	111899876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaacacgctctgaagccggCggtgagtctatatcatgtcg	11	11	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:111899876C>T	uc004bdw.1	-	5	894	c.894G>A	c.(892-894)CCG>CCA	p.P298P		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	hypothetical protein LOC23732	298						integral to membrane					0						CTGAAGCCGGCGGTGAGTCTA	0.388													T	111899876	C	T	111899876	2	4	257	1	0	0	0	0	0	0	0	1	2480	755	27	1		1	C9orf4	9	111899876	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1650483	111899876	29313555	896	127828											
PTPN3	5774	broad.mit.edu	37	chr9	112141873	112141873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggactaaaccttcttcaTacacacgaagaatcgcttca	5	11	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:112141873T>C	uc004bed.2	-	26	2817	c.2705A>G	c.(2704-2706)TAT>TGT	p.Y902C	PTPN3_uc004beb.2_Missense_Mutation_p.Y771C|PTPN3_uc004bec.2_Missense_Mutation_p.Y726C|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.Y857C|PTPN3_uc011lwh.1_Missense_Mutation_p.Y748C|PTPN3_uc011lwd.1_Missense_Mutation_p.Y370C|PTPN3_uc011lwe.1_Missense_Mutation_p.Y615C|PTPN3_uc011lwf.1_Missense_Mutation_p.Y570C	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	902					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			ovary(3)	3						ACCTTCTTCATACACACGAAG	0.443													C	112141873	T	C	112141873	3	2	257	1	0	0	0	0	1	0	0	0	12789	1406	49	3	40	3	PTPN3	9	112141873	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	241997	112141873	29071558	897	127829											
ZNF483	158399	broad.mit.edu	37	chr9	114304406	114304406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcagtaagtgtgggatAatctttattagaagatcaac	9	4	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:114304406A>G	uc004bff.2	+	6	1415	c.1191A>G	c.(1189-1191)ATA>ATG	p.I397M	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	397					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AGTGTGGGATAATCTTTATTA	0.403													G	114304406	A	G	114304406	3	3	257	1	0	0	0	0	1	0	0	0	17933	352	13	3	1209	3	ZNF483	9	114304406	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2162533	114304406	26909025	898	127830											
SLC46A2	57864	broad.mit.edu	37	chr9	115651926	115651926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgatcatggtggtgtcccGaaagcagcgggagaagacca	14	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:115651926G>A	uc004bgk.2	-	1	1268	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	346	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						GTGGTGTCCCGAAAGCAGCGG	0.522													A	115651926	G	A	115651926	3	1	257	1	0	0	0	0	1	0	0	0	14645	1057	37	1	407	1	SLC46A2	9	115651926	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1347520	115651926	25561505	899	127831											
AKNA	80709	broad.mit.edu	37	chr9	117104360	117104360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggggacactgaaggGtatcagcgggaggcggtccc	16	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:117104360G>A	uc004biq.3	-	19	3938	c.3803C>T	c.(3802-3804)ACC>ATC	p.T1268I	AKNA_uc004bin.3_Missense_Mutation_p.T515I|AKNA_uc004bio.3_Missense_Mutation_p.T728I|AKNA_uc004bip.3_Missense_Mutation_p.T1187I|AKNA_uc004bir.3_Missense_Mutation_p.T1268I|AKNA_uc004bis.3_Missense_Mutation_p.T1268I|AKNA_uc010mve.2_Missense_Mutation_p.T1149I	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						ACACTGAAGGGTATCAGCGGG	0.547													A	117104360	G	A	117104360	3	1	257	1	0	0	0	0	1	0	0	0	463	1261	44	4	528	4	AKNA	9	117104360	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1452434	117104360	24109071	900	127832											
TRIM32	22954	broad.mit.edu	37	chr9	119460614	119460614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcagggtccaggatgAgctggctcgctctcggaagt	17	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:119460614A>G	uc004bjx.2	+	2	751	c.593A>G	c.(592-594)GAG>GGG	p.E198G	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.E198G	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	198					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			central_nervous_system(2)|kidney(1)	3						GTCCAGGATGAGCTGGCTCGC	0.532									Bardet-Biedl_syndrome				G	119460614	A	G	119460614	3	3	257	1	0	0	0	0	1	0	0	0	16503	304	11	3	595	3	TRIM32	9	119460614	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2356254	119460614	21752817	901	127833											
CEP110	11064	broad.mit.edu	37	chr9	123907626	123907626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgacaaaggacagagatTgcaaggctgcagaatgtact	12	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:123907626T>C	uc004bkx.1	+	20	3304	c.3273T>C	c.(3271-3273)ATT>ATC	p.I1091I	CEP110_uc004bky.1_Silent_p.I695I|CEP110_uc004bla.1_Silent_p.I539I|CEP110_uc010mvo.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1091	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GGACAGAGATTGCAAGGCTGC	0.403													C	123907626	T	C	123907626	2	2	257	1	0	0	0	0	0	0	0	1	3245	1800	63	3		3	CEP110	9	123907626	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4447012	123907626	17305805	902	127834											
PTGS1	5742	broad.mit.edu	37	chr9	125141066	125141066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagtgcgctccaaccTtatccccagtccccccacct	5	21	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125141066T>G	uc004bmg.1	+	5	500	c.365T>G	c.(364-366)CTT>CGT	p.L122R	PTGS1_uc011lys.1_Missense_Mutation_p.L97R|PTGS1_uc010mwb.1_Missense_Mutation_p.L13R|PTGS1_uc004bmf.1_Missense_Mutation_p.L122R|PTGS1_uc004bmh.1_Missense_Mutation_p.L13R|PTGS1_uc011lyt.1_Missense_Mutation_p.L13R	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	122					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			ovary(1)|skin(1)	2					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)	CGCTCCAACCTTATCCCCAGT	0.532													G	125141066	T	G	125141066	3	3	257	1	0	0	0	0	1	0	0	0	12755	1609	56	5	383	5	PTGS1	9	125141066	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1233440	125141066	16072365	903	127835											
PTGS1	5742	broad.mit.edu	37	chr9	125154761	125154761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtccctacgtttccttcCgtgtgccggatgccagtcag	10	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125154761C>T	uc004bmg.1	+	11	1873	c.1738C>T	c.(1738-1740)CGT>TGT	p.R580C	PTGS1_uc011lys.1_Missense_Mutation_p.R518C|PTGS1_uc010mwb.1_Missense_Mutation_p.R434C|PTGS1_uc004bmf.1_Missense_Mutation_p.R543C|PTGS1_uc004bmh.1_Missense_Mutation_p.R471C|PTGS1_uc011lyt.1_Missense_Mutation_p.R471C	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	580					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			ovary(1)|skin(1)	2					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)	CGTTTCCTTCCGTGTGCCGGA	0.572													T	125154761	C	T	125154761	3	4	257	1	0	0	0	0	1	0	0	0	12755	652	23	1	1780	1	PTGS1	9	125154761	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	13695	125154761	16058670	904	127836											
PDCL	5082	broad.mit.edu	37	chr9	125582522	125582522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccagctggtcagtaacacGaacaaaattgccgatcaatt	7	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125582522G>A	uc004bmz.1	-	4	844	c.748C>T	c.(748-750)CGT>TGT	p.R250C	uc004bmy.2_5'Flank|PDCL_uc004bna.2_3'UTR	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	250					signal transduction|visual perception						0						TCAGTAACACGAACAAAATTG	0.493													A	125582522	G	A	125582522	3	1	257	1	0	0	0	0	1	0	0	0	11626	1058	37	1	161	1	PDCL	9	125582522	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	427761	125582522	15630909	905	127837											
ZBTB6	10773	broad.mit.edu	37	chr9	125673316	125673316	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtatgcccatgtgtcctcGgatgtgtcggttgagatttt	12	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125673316G>A	uc004bnh.2	-	2	1125	c.1036C>T	c.(1036-1038)CGA>TGA	p.R346*		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	346	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGTGTCCTCGGATGTGTCGG	0.428													A	125673316	G	A	125673316	4	1	257	1	0	0	0	0	0	1	0	0	17549	1124	39	1	242	1	ZBTB6	9	125673316	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	90794	125673316	15540115	906	127838											
ZNF79	7633	broad.mit.edu	37	chr9	130191185	130191185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggctgctggtctcctcAcagctgggccccgggtaagt	14	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:130191185A>G	uc004bqw.3	+	2	505	c.91A>G	c.(91-93)ACA>GCA	p.T31A	ZNF79_uc011maf.1_Missense_Mutation_p.T7A|ZNF79_uc011mag.1_Missense_Mutation_p.T7A	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TGGTCTCCTCACAGCTGGGCC	0.468													G	130191185	A	G	130191185	3	3	257	1	0	0	0	0	1	0	0	0	18158	159	6	3	97	3	ZNF79	9	130191185	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	4517869	130191185	11022246	907	127839											
ZNF79	7633	broad.mit.edu	37	chr9	130207427	130207427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgtgggaaggccttccGgtgcagctctgccttcgtta	14	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:130207427G>A	uc004bqw.3	+	5	1862	c.1448G>A	c.(1447-1449)CGG>CAG	p.R483Q	ZNF79_uc011maf.1_Missense_Mutation_p.R459Q|ZNF79_uc011mag.1_Missense_Mutation_p.R459Q	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	483	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						AAGGCCTTCCGGTGCAGCTCT	0.537													A	130207427	G	A	130207427	3	1	257	1	0	0	0	0	1	0	0	0	18158	1116	39	1	1466	1	ZNF79	9	130207427	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	16242	130207427	11006004	908	127840											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653012	130653012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggggaacaccaggcccGctcgctggatcacacgcacg	13	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:130653012G>A	uc004bso.1	-	5	727	c.608C>T	c.(607-609)GCG>GTG	p.A203V	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.A169V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.A203V|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.A169V|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.A169V|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	203	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						CACCAGGCCCGCTCGCTGGAT	0.622													A	130653012	G	A	130653012	3	1	257	1	0	0	0	0	1	0	0	0	15227	1087	38	1	405	1	ST6GALNAC6	9	130653012	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	445585	130653012	10560419	909	127841											
SET	6418	broad.mit.edu	37	chr9	131455933	131455933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaggatttgacgaaacgttCgagtcaaacgcagaataaag	10	6	1	2	rs142648600	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:131455933C>T	uc004bvt.3	+	6	789	c.548C>T	c.(547-549)TCG>TTG	p.S183L	SET_uc004bvu.3_Missense_Mutation_p.S170L|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.S159L	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	183					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		ACGAAACGTTCGAGTCAAACG	0.418			T	NUP214	AML								T	131455933	C	T	131455933	3	4	257	1	0	0	0	0	1	0	0	0	14128	893	31	1	647	1	SET	9	131455933	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	802921	131455933	9757498	910	127842											
PKN3	29941	broad.mit.edu	37	chr9	131475348	131475348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggacactgcaggtccgcCtcctgggctgtgaacagttg	14	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:131475348C>A	uc004bvw.2	+	7	1246	c.853C>A	c.(853-855)CTC>ATC	p.L285I	PKN3_uc010myh.2_Missense_Mutation_p.L285I|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	285					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GCAGGTCCGCCTCCTGGGCTG	0.677													A	131475348	C	A	131475348	3	1	257	1	0	0	0	0	1	0	0	0	11981	681	24	5	879	5	PKN3	9	131475348	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	19415	131475348	9738083	911	127843											
LRRC8A	56262	broad.mit.edu	37	chr9	131670480	131670480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtggtggatgctacggcGctccctcaagaagtactcgt	12	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:131670480G>A	uc004bwl.3	+	3	1291	c.1037G>A	c.(1036-1038)CGC>CAC	p.R346H	LRRC8A_uc010myp.2_Missense_Mutation_p.R346H|LRRC8A_uc010myq.2_Missense_Mutation_p.R346H	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	346					pre-B cell differentiation	integral to membrane					0						ATGCTACGGCGCTCCCTCAAG	0.542													A	131670480	G	A	131670480	3	1	257	1	0	0	0	0	1	0	0	0	9021	1087	38	1	1039	1	LRRC8A	9	131670480	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	195132	131670480	9542951	912	127844											
ABL1	25	broad.mit.edu	37	chr9	133755916	133755916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggggaaacaaggcGtccgtggggctgtgagtacc	18	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:133755916G>A	uc004bzw.2	+	10	1546	c.1543G>A	c.(1543-1545)GTC>ATC	p.V515I	ABL1_uc004bzv.2_Missense_Mutation_p.V534I	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	515					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			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		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)	GAAACAAGGCGTCCGTGGGGC	0.562			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								A	133755916	G	A	133755916	3	1	257	1	0	0	0	0	1	0	0	0	92	1145	40	1	1721	1	ABL1	9	133755916	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2085436	133755916	7457515	913	127845											
LAMC3	10319	broad.mit.edu	37	chr9	133901842	133901842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccagtacctgcgccccGgcgaggacgagcgcgtggcc	17	15	0	0	rs141325432		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:133901842G>A	uc004caa.1	+	2	642	c.544G>A	c.(544-546)GGC>AGC	p.G182S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	182	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTGCGCCCCGGCGAGGACGA	0.706													A	133901842	G	A	133901842	3	1	257	1	0	0	0	0	1	0	0	0	8616	1116	39	1	550	1	LAMC3	9	133901842	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	145926	133901842	7311589	914	127846											
LAMC3	10319	broad.mit.edu	37	chr9	133928327	133928327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccagcctccgcctccgCgtcagtcccggccccagccc	9	23	1	1	rs142915387		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:133928327C>T	uc004caa.1	+	11	2012	c.1914C>T	c.(1912-1914)CGC>CGT	p.R638R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	638	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCCGCCTCCGCGTCAGTCCCG	0.682											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	133928327	C	T	133928327	2	4	257	1	0	0	0	0	0	0	0	1	8616	755	27	1		1	LAMC3	9	133928327	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	26485	133928327	7285104	915	127847											
TSC1	7248	broad.mit.edu	37	chr9	135772951	135772951	+	Frame_Shift_Del	DEL	T	T	-													gctggagaacatggcttctgTttttttctagctctttccga					rs118203724		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:135772950_135772950GT>G	uc004cca.2	-	20	2907	c.2673_2673AC>C	c.(2671-2673)aacfs	p.N891fs	TSC1_uc004ccb.3_Frame_Shift_Del_p.N890fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.N840fs|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	891					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	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)		CATGGCTTCTGTTTTTTTCTA	0.378			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				-	135772951	T	-	135772951	7	5	257	1	0	1	0	1	0	0	0	0	16602	1725	60	0	834	0	TSC1	9	135772951	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1844624	135772951	5440480	916	127848											
RXRA	6256	broad.mit.edu	37	chr9	137313626	137313626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcagagctgcccctggaCgaccaggtcatcctgctgcg	11	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:137313626C>T	uc004cfb.2	+	6	1047	c.885C>T	c.(883-885)GAC>GAT	p.D295D	RXRA_uc004cfc.1_Silent_p.D198D|RXRA_uc004cfd.1_Silent_p.D66D	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	295	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			upper_aerodigestive_tract(1)|ovary(1)	2				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)	TGCCCCTGGACGACCAGGTCA	0.627													T	137313626	C	T	137313626	2	4	257	1	0	0	0	0	0	0	0	1	13763	535	19	1		1	RXRA	9	137313626	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1540675	137313626	3899805	917	127849											
COL5A1	1289	broad.mit.edu	37	chr9	137622298	137622298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaattcccaccagcaccGccgacacctccaactcctcc	4	22	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:137622298G>A	uc004cfe.2	+	7	1523	c.1141G>A	c.(1141-1143)GCC>ACC	p.A381T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	381	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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		CACCAGCACCGCCGACACCTC	0.622													A	137622298	G	A	137622298	3	1	257	1	0	0	0	0	1	0	0	0	3696	1087	38	1	1167	1	COL5A1	9	137622298	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	308672	137622298	3591133	918	127850											
KIAA0649	9858	broad.mit.edu	37	chr9	138378033	138378033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaggtgagagctgcccGcaggctgcccagggtccact	15	14	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:138378033G>A	uc004cfr.1	+	4	2226	c.1677G>A	c.(1675-1677)CCG>CCA	p.P559P		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	559						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		AGAGCTGCCCGCAGGCTGCCC	0.617													A	138378033	G	A	138378033	2	1	257	1	0	0	0	0	0	0	0	1	8187	1074	38	1		1	KIAA0649	9	138378033	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	755735	138378033	2835398	919	127851											
NOTCH1	4851	broad.mit.edu	37	chr9	139393380	139393380	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatatctttgttagcccCgttcttcaggagcacaactg	8	12	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139393380C>A	uc004chz.2	-	33	6151	c.6151G>T	c.(6151-6153)GGG>TGG	p.G2051W		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2051	Cytoplasmic (Potential).|ANK 4.				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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTAGCCCCGTTCTTCAGG	0.592			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139393380	C	A	139393380	3	1	257	1	0	0	0	0	1	0	0	0	10547	652	23	5	1524	5	NOTCH1	9	139393380	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1015347	139393380	1820051	920	127852											
FAM69B	138311	broad.mit.edu	37	chr9	139616704	139616704	+	Frame_Shift_Del	DEL	G	G	-													actgtttgacaagcccacccGgggcacctccatcaaggaat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139616704delG	uc004cik.2	+	4	528	c.434delG	c.(433-435)CGGfs	p.R145fs	FAM69B_uc004cil.2_Frame_Shift_Del_p.R58fs|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	145	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	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)		AAGCCCACCCGGGGCACCTCC	0.617													-	139616704	G	-	139616704	7	5	257	1	0	1	0	1	0	0	0	0	5603	1116	39	0	448	0	FAM69B	9	139616704	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	223324	139616704	1596727	921	127853											
C9orf86	55684	broad.mit.edu	37	chr9	139726288	139726288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctgccggacgacgtgCgtgacttcatcgacaacctg	10	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139726288C>T	uc004cji.1	+	6	842	c.574C>T	c.(574-576)CGT>TGT	p.R192C	C9orf86_uc004cjm.2_Missense_Mutation_p.R192C|C9orf86_uc004cjh.2_Missense_Mutation_p.R192C|C9orf86_uc004cjj.1_Missense_Mutation_p.R192C|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R192C|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R77C	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	192	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GGACGACGTGCGTGACTTCAT	0.672													T	139726288	C	T	139726288	3	4	257	1	0	0	0	0	1	0	0	0	2502	768	27	1	596	1	C9orf86	9	139726288	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	109584	139726288	1487143	922	127854											
C9orf172	389813	broad.mit.edu	37	chr9	139741054	139741054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagttttgccgcgacagcGgcccggtgcaccgcgctttc	13	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139741054G>A	uc011meh.1	+	1	2188	c.2188G>A	c.(2188-2190)GGC>AGC	p.G730S	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	730											0						CCGCGACAGCGGCCCGGTGCA	0.726													A	139741054	G	A	139741054	3	1	257	1	0	0	0	0	1	0	0	0	2471	1116	39	1	2190	1	C9orf172	9	139741054	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	14766	139741054	1472377	923	127855											
TUBB2C	10383	broad.mit.edu	37	chr9	140137440	140137440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagctggctgtgaacaTggtcccgtttccccggctgc	14	13	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:140137440T>C	uc004cmh.1	+	4	872	c.770T>C	c.(769-771)ATG>ACG	p.M257T	TUBB2C_uc004cmg.1_Missense_Mutation_p.M111T	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	257					'de novo' posttranslational protein folding|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|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCTGTGAACATGGTCCCGTTT	0.652													C	140137440	T	C	140137440	3	2	257	1	0	0	0	0	1	0	0	0	16753	1464	51	3	784	3	TUBB2C	9	140137440	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	396386	140137440	1075991	924	127856											
TUBB2C	10383	broad.mit.edu	37	chr9	140137949	140137949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagtaccagcagtaccagGatgccacagccgaggaggag	14	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:140137949G>A	uc004cmh.1	+	4	1381	c.1279G>A	c.(1279-1281)GAT>AAT	p.D427N	TUBB2C_uc004cmg.1_Missense_Mutation_p.D281N	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	427					'de novo' posttranslational protein folding|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|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGTACCAGGATGCCACAGC	0.602													A	140137949	G	A	140137949	3	1	257	1	0	0	0	0	1	0	0	0	16753	1174	41	4	1293	4	TUBB2C	9	140137949	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	509	140137949	1075482	925	127857											
ZMYND11	10771	broad.mit.edu	37	chr10	286020	286020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgagcaagctgacattgCgaggatgctatataaagaca	11	7	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:286020C>T	uc010pzt.1	+	8	1150	c.722C>T	c.(721-723)GCG>GTG	p.A241V	ZMYND11_uc001ifk.2_Missense_Mutation_p.A240V|ZMYND11_uc010pzu.1_Missense_Mutation_p.A241V|ZMYND11_uc010pzv.1_Missense_Mutation_p.A186V|ZMYND11_uc010pzw.1_Missense_Mutation_p.A156V|ZMYND11_uc001ifm.2_Missense_Mutation_p.A187V|ZMYND11_uc010pzx.1_Missense_Mutation_p.A241V|ZMYND11_uc001ifn.2_Missense_Mutation_p.A187V|ZMYND11_uc009xhg.2_Missense_Mutation_p.A224V|ZMYND11_uc009xhh.2_Missense_Mutation_p.A141V|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	201					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTGACATTGCGAGGATGCTA	0.328													T	286020	C	T	286020	3	4	257	1	0	0	0	0	1	0	0	0	17703	768	27	1	748	1	ZMYND11	10	286020	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08		286020	135248727	926	127858											
DIP2C	22982	broad.mit.edu	37	chr10	410451	410451	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaggcctccgggacccacGaaccccagcaagcctgtcct	10	18	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:410451G>A	uc001ifp.2	-	20	2430	c.2340C>T	c.(2338-2340)TTC>TTT	p.F780F	DIP2C_uc009xhi.1_Silent_p.F166F|DIP2C_uc010pzz.1_Silent_p.F101F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	780						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		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)		CGGGACCCACGAACCCCAGCA	0.617													A	410451	G	A	410451	2	1	257	1	0	0	0	0	0	0	0	1	4529	1049	37	1		1	DIP2C	10	410451	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	124431	410451	135124296	927	127859											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		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						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	257	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	480488	890939	134643808	928	127860											
FBXO18	84893	broad.mit.edu	37	chr10	5951237	5951237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgcggcaacacctccccGacctctacgctgctgccggg	12	17	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:5951237G>A	uc001iis.2	+	5	1095	c.1000G>A	c.(1000-1002)GAC>AAC	p.D334N	FBXO18_uc001iir.2_Missense_Mutation_p.D260N|FBXO18_uc009xig.2_Missense_Mutation_p.D260N|FBXO18_uc001iit.2_Missense_Mutation_p.D385N	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	334					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						ACACCTCCCCGACCTCTACGC	0.602													A	5951237	G	A	5951237	3	1	257	1	0	0	0	0	1	0	0	0	5731	1058	37	1	1180	1	FBXO18	10	5951237	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5060298	5951237	129583510	929	127861											
PFKFB3	5209	broad.mit.edu	37	chr10	6274870	6274870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacagaacatgaaaggcTcccggagcagcgctgactcc	11	12	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:6274870T>C	uc001ije.2	+	15	1912	c.1528T>C	c.(1528-1530)TCC>CCC	p.S510P	PFKFB3_uc001ijd.2_Missense_Mutation_p.S490P|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.S524P|PFKFB3_uc001ijf.2_3'UTR|PFKFB3_uc001ijg.2_RNA|PFKFB3_uc009xij.2_RNA|PFKFB3_uc009xik.2_RNA|PFKFB3_uc009xil.2_RNA	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	510	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|identical protein binding			ovary(2)|central_nervous_system(1)	3						CATGAAAGGCTCCCGGAGCAG	0.537													C	6274870	T	C	6274870	3	2	257	1	0	0	0	0	1	0	0	0	11762	1551	54	3	1606	3	PFKFB3	10	6274870	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	323633	6274870	129259877	930	127862											
ITIH5	80760	broad.mit.edu	37	chr10	7657989	7657989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcactgctgtcaagcaCgaataccacattcttgggta	9	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:7657989C>T	uc001ijq.2	-	7	974	c.895G>A	c.(895-897)GTG>ATG	p.V299M	ITIH5_uc001ijp.2_Missense_Mutation_p.V85M|ITIH5_uc001ijr.1_Missense_Mutation_p.V299M	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	299	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CTGTCAAGCACGAATACCACA	0.473													T	7657989	C	T	7657989	3	4	257	1	0	0	0	0	1	0	0	0	7907	536	19	1	2088	1	ITIH5	10	7657989	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1383119	7657989	127876758	931	127863											
MCM10	55388	broad.mit.edu	37	chr10	13213015	13213015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaataacttcttgacgcGggaaaatggcgagcccgacg	12	9	1	2	rs150335901		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:13213015G>A	uc001ima.2	+	3	202	c.101G>A	c.(100-102)CGG>CAG	p.R34Q	MCM10_uc001imb.2_Missense_Mutation_p.R34Q|MCM10_uc001imc.2_Missense_Mutation_p.R34Q	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	34					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			ovary(2)|central_nervous_system(1)	3						TTCTTGACGCGGGAAAATGGC	0.488													A	13213015	G	A	13213015	3	1	257	1	0	0	0	0	1	0	0	0	9385	1116	39	1	107	1	MCM10	10	13213015	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5555026	13213015	122321732	932	127864											
CDNF	441549	broad.mit.edu	37	chr10	14862006	14862006	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttttggggtgtgtcgcTgcatacttgggggccagctc	15	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:14862006T>C	uc001inb.1	-	4	575	c.537A>G	c.(535-537)GCA>GCG	p.A179A	CDNF_uc010qbv.1_3'UTR|CDNF_uc001inc.1_Silent_p.A70A	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	179						extracellular region	growth factor activity				0						GGTGTGTCGCTGCATACTTGG	0.478													C	14862006	T	C	14862006	2	2	257	1	0	0	0	0	0	0	0	1	3168	1567	55	3		3	CDNF	10	14862006	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1648991	14862006	120672741	933	127865											
ITGA8	8516	broad.mit.edu	37	chr10	15649742	15649742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcacaagagggaagacGcgatgagcctgatggttatc	12	7	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:15649742G>A	uc001ioc.1	-	17	1698	c.1698C>T	c.(1696-1698)CGC>CGT	p.R566R	ITGA8_uc010qcb.1_Silent_p.R551R	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	566	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GAGGGAAGACGCGATGAGCCT	0.453													A	15649742	G	A	15649742	2	1	257	1	0	0	0	0	0	0	0	1	7882	1074	38	1		1	ITGA8	10	15649742	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	787736	15649742	119885005	934	127866											
KIAA1217	56243	broad.mit.edu	37	chr10	24820809	24820809	+	Frame_Shift_Del	DEL	C	C	-													aaaagctggggggaaagtcgCcccctcctcctccgccacct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:24820808_24820808GC>G	uc001iru.4	+	14	3535	c.3132_3132GC>G	c.(3130-3132)tcgfs	p.S1044fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.S964fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.S1009fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.S1008fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.S1009fs|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001irz.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001irx.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001iry.3_Frame_Shift_Del_p.S727fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1044					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						GGGGAAAGTCGCCCCCTCCTC	0.522													-	24820809	C	-	24820809	7	5	257	1	0	1	0	1	0	0	0	0	8216	739	26	0	3191	0	KIAA1217	10	24820809	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	9171067	24820809	110713938	935	127867											
ENKUR	219670	broad.mit.edu	37	chr10	25279480	25279480	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataacgatcatagtcttctTgggctttctttatttcctcg	6	9	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:25279480T>C	uc001isg.1	-	4	671	c.506A>G	c.(505-507)CAA>CGA	p.Q169R	ENKUR_uc001ish.1_Missense_Mutation_p.Q107R	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	169						cilium|flagellum	calmodulin binding|SH3 domain binding				0						ATAGTCTTCTTGGGCTTTCTT	0.373													C	25279480	T	C	25279480	3	2	257	1	0	0	0	0	1	0	0	0	5120	1812	63	3	276	3	ENKUR	10	25279480	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	458671	25279480	110255267	936	127868											
GPR158	57512	broad.mit.edu	37	chr10	25886977	25886977	+	Frame_Shift_Del	DEL	A	A	-													aatccaaggaggagaccctgAaaaaccgagtcttctcactc					rs150246697		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:25886976_25886976GA>G	uc001isj.3	+	10	2481	c.2421_2421GA>G	c.(2419-2421)ctgfs	p.L807fs	GPR158_uc001isk.3_Frame_Shift_Del_p.L182fs	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	807						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L807L(2)		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						AGGAGACCCTGAAAAACCGAG	0.547													-	25886977	A	-	25886977	7	5	257	1	0	1	0	1	0	0	0	0	6663	247	9	0	2464	0	GPR158	10	25886977	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	607497	25886977	109647770	937	127869											
MYO3A	53904	broad.mit.edu	37	chr10	26359089	26359090	+	Frame_Shift_Ins	INS	-	-	T													actgccagtcctcctcacatINSttttgcaatggctgacttag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:26359088_26359089A>AT	uc001isn.2	+	12	1579_1580	c.1219_1220A>AT	c.(1219-1221)attfs	p.I407fs	MYO3A_uc009xko.1_Frame_Shift_Ins_p.I407fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Ins_p.I407fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	407	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|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						TCCTCCTCACATTTTTGCAATG	0.322													T	26359090	-	T	26359089	7	5	257	1	0	1	1	0	0	0	0	0	10076	1493	52	0	1262	0	MYO3A	10	26359089	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	472112	26359089	109175658	938	127870											
YME1L1	10730	broad.mit.edu	37	chr10	27400933	27400933	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccaactttttcccctcAagaacaatttgaatctcttt	2	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:27400933A>G	uc001iti.2	-	20	2477	c.2295T>C	c.(2293-2295)CTT>CTC	p.L765L	YME1L1_uc001itj.2_Silent_p.L708L|YME1L1_uc010qdl.1_Silent_p.L675L|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	765					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTTTCCCCTCAAGAACAATTT	0.368													G	27400933	A	G	27400933	2	3	257	1	0	0	0	0	0	0	0	1	17484	117	5	3		3	YME1L1	10	27400933	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1041844	27400933	108133814	939	127871											
SVIL	6840	broad.mit.edu	37	chr10	29769643	29769643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccaggccatagccacGgccgacgttcactccgtcca	8	18	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:29769643G>A	uc001iut.1	-	29	5953	c.5200C>T	c.(5200-5202)CGT>TGT	p.R1734C	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.R648C|SVIL_uc001iuu.1_Missense_Mutation_p.R1308C|SVIL_uc009xlc.2_Missense_Mutation_p.R526C	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1734					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CCATAGCCACGGCCGACGTTC	0.577													A	29769643	G	A	29769643	3	1	257	1	0	0	0	0	1	0	0	0	15418	1116	39	1	1484	1	SVIL	10	29769643	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2368710	29769643	105765104	940	127872											
KIAA1462	57608	broad.mit.edu	37	chr10	30315149	30315149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccaatctctgggcacGgtccccactgccaggagaca	12	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:30315149G>A	uc001iux.2	-	2	3987	c.3928C>T	c.(3928-3930)CGT>TGT	p.R1310C	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172C|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1310										ovary(4)	4						CTCTGGGCACGGTCCCCACTG	0.617													A	30315149	G	A	30315149	3	1	257	1	0	0	0	0	1	0	0	0	8234	1116	39	1	159	1	KIAA1462	10	30315149	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	545506	30315149	105219598	941	127873											
KIAA1462	57608	broad.mit.edu	37	chr10	30318056	30318056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtatgagggcggaggcaCgtacactggaggttccaatc	14	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:30318056C>T	uc001iux.2	-	2	1080	c.1021G>A	c.(1021-1023)GTG>ATG	p.V341M	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.V203M|KIAA1462_uc009xle.1_Missense_Mutation_p.V341M	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	341	Pro-rich.									ovary(4)	4						GGCGGAGGCACGTACACTGGA	0.582													T	30318056	C	T	30318056	3	4	257	1	0	0	0	0	1	0	0	0	8234	536	19	1	3066	1	KIAA1462	10	30318056	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2907	30318056	105216691	942	127874											
C10orf68	79741	broad.mit.edu	37	chr10	32974953	32974953	+	Frame_Shift_Del	DEL	A	A	-													gagcatcaagaatcattgtcAaaaaccaaattacaaataaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:32974952_32974952CA>C	uc001iwm.1	+	2	376	c.140_140CA>C	c.(139-141)tcafs	p.S47fs	C10orf68_uc001iwl.1_Frame_Shift_Del_p.S41fs|C10orf68_uc001iwn.4_Frame_Shift_Del_p.S33fs|C10orf68_uc010qei.1_5'UTR	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	33										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GAATCATTGTCAAAAACCAAA	0.279													-	32974953	A	-	32974953	7	5	257	1	0	1	0	1	0	0	0	0	1613	117	5	0	105	0	C10orf68	10	32974953	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	2656897	32974953	102559794	943	127875											
C10orf68	79741	broad.mit.edu	37	chr10	33134495	33134495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgataagaacttctttgcctAtgctactggaagaggtctaa	9	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:33134495A>G	uc001iwn.3	+	15	1663	c.1190A>G	c.(1189-1191)TAT>TGT	p.Y397C	C10orf68_uc001iwl.1_Missense_Mutation_p.Y356C|C10orf68_uc001iwm.1_Missense_Mutation_p.Y401C|C10orf68_uc010qei.1_Missense_Mutation_p.Y373C|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	397										skin(2)|ovary(1)	3						TTCTTTGCCTATGCTACTGGA	0.308													G	33134495	A	G	33134495	3	3	257	1	0	0	0	0	1	0	0	0	1613	449	16	3	1240	3	C10orf68	10	33134495	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	159542	33134495	102400252	944	127876											
ITGB1	3688	broad.mit.edu	37	chr10	33209310	33209310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaatgacttctgaggaaaGggactaaaagaatgcctaat	9	6	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:33209310G>T	uc001iws.3	-	10	1268	c.1132C>A	c.(1132-1134)CTT>ATT	p.L378I	ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	378	Extracellular (Potential).|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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTGAGGAAAGGGACTAAAAG	0.353													T	33209310	G	T	33209310	3	4	257	1	0	0	0	0	1	0	0	0	7890	1000	35	5	1530	5	ITGB1	10	33209310	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	74815	33209310	102325437	945	127877											
PARD3	56288	broad.mit.edu	37	chr10	34620201	34620201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtcacctcggcaactgCggtctgcagactctccaacg	9	15	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:34620201C>T	uc010qej.1	-	19	2686	c.2686G>A	c.(2686-2688)GCA>ACA	p.A896T	PARD3_uc010qek.1_Missense_Mutation_p.A893T|PARD3_uc010qel.1_Missense_Mutation_p.A896T|PARD3_uc010qem.1_Missense_Mutation_p.A880T|PARD3_uc010qen.1_Missense_Mutation_p.A850T|PARD3_uc010qeo.1_Missense_Mutation_p.A850T|PARD3_uc010qep.1_Missense_Mutation_p.A806T|PARD3_uc010qeq.1_Missense_Mutation_p.A821T|PARD3_uc001ixo.1_Missense_Mutation_p.A609T|PARD3_uc001ixp.1_Missense_Mutation_p.A727T|PARD3_uc001ixq.1_Missense_Mutation_p.A850T|PARD3_uc001ixr.1_Missense_Mutation_p.A893T|PARD3_uc001ixt.1_Missense_Mutation_p.A714T|PARD3_uc001ixu.1_Missense_Mutation_p.A838T|PARD3_uc001ixs.1_Missense_Mutation_p.A519T	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	896	Interacts with PRKCZ (By similarity).				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			ovary(1)	1		Breast(68;0.0707)				TCGGCAACTGCGGTCTGCAGA	0.517													T	34620201	C	T	34620201	3	4	257	1	0	0	0	0	1	0	0	0	11443	768	27	1	1447	1	PARD3	10	34620201	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1410891	34620201	100914546	946	127878											
CUL2	8453	broad.mit.edu	37	chr10	35351916	35351916	+	Frame_Shift_Del	DEL	A	A	-													aatgccgaacatgattttccAaaaaaatcttagtttctgta							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:35351915_35351915CA>C	uc010qer.2	-	2	356	c.252_252TG>G	c.(250-252)ttgfs	p.L84fs	CUL2_uc021ppa.1_Frame_Shift_Del_p.L78fs|CUL2_uc009xma.3_5'UTR|CUL2_uc001ixv.3_Frame_Shift_Del_p.L65fs|CUL2_uc001ixw.3_Frame_Shift_Del_p.L65fs|CUL2_uc010qes.2_Frame_Shift_Del_p.L65fs	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	65					G1/S transition of mitotic cell cycle|cell cycle arrest|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	p.L65fs*10(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGATTTTCCAAAAAAATCT	0.313													-	35351916	A	-	35351916	7	5	257	1	0	1	0	1	0	0	0	0	4055	131	5	0	2119	0	CUL2	10	35351916	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	731715	35351916	100182831	947	127879											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430790	37430791	+	Frame_Shift_Ins	INS	-	-	A													acggctgaaagcttggtggaINSaaaaacacctgatgaggctg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:37430789_37430790G>GA	uc021ppc.1	+	6	895_896	c.796_797G>GA	c.(796-798)gaafs	p.E266fs	ANKRD30A_uc001iza.1_Frame_Shift_Ins_p.E266fs	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	322						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						AAGCTTGGTGGAAAAAACACCT	0.475													A	37430791	-	A	37430790	7	5	257	1	0	1	1	0	0	0	0	0	658	246	9	0	823	0	ANKRD30A	10	37430790	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2078874	37430790	98103957	948	127880											
RET	5979	broad.mit.edu	37	chr10	43600617	43600617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtcgacaccgccagcgcCgtggtggagttcaagcggaa	16	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:43600617C>T	uc001jal.2	+	4	1033	c.843C>T	c.(841-843)GCC>GCT	p.A281A	RET_uc001jak.1_Silent_p.A281A|RET_uc010qez.1_Silent_p.A27A	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	281	Extracellular (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCGCCAGCGCCGTGGTGGAGT	0.667		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43600617	C	T	43600617	2	4	257	1	0	0	0	0	0	0	0	1	13235	639	23	1		1	RET	10	43600617	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6169827	43600617	91934130	949	127881											
RET	5979	broad.mit.edu	37	chr10	43615133	43615133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggccctcaccatgggCgacctcatctcatttgcctg	11	15	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:43615133C>T	uc001jal.2	+	14	2737	c.2547C>T	c.(2545-2547)GGC>GGT	p.G849G	RET_uc001jak.1_Silent_p.G849G|RET_uc010qez.1_Silent_p.G595G	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	849	Protein kinase.|Cytoplasmic (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCACCATGGGCGACCTCATCT	0.632		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43615133	C	T	43615133	2	4	257	1	0	0	0	0	0	0	0	1	13235	755	27	1		1	RET	10	43615133	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	14516	43615133	91919614	950	127882											
TMEM72	643236	broad.mit.edu	37	chr10	45430248	45430248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccggctctggggacaCagagcaaacctacactttcc	8	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:45430248C>T	uc001jbn.2	+	5	691	c.494C>T	c.(493-495)ACA>ATA	p.T165I	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.T47I	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	165						integral to membrane					0						TCTGGGGACACAGAGCAAACC	0.597													T	45430248	C	T	45430248	3	4	257	1	0	0	0	0	1	0	0	0	16198	478	17	4	512	4	TMEM72	10	45430248	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1815115	45430248	90104499	951	127883											
RASSF4	83937	broad.mit.edu	37	chr10	45478063	45478063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgaccgggagcaggTgcacctcccctccacctcat	11	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:45478063T>C	uc001jbo.2	+	4	367	c.233T>C	c.(232-234)GTG>GCG	p.V78A	RASSF4_uc001jbp.2_Missense_Mutation_p.V109A|RASSF4_uc009xmn.2_Missense_Mutation_p.V8A|RASSF4_uc001jbq.2_Missense_Mutation_p.C6R|RASSF4_uc001jbt.2_Missense_Mutation_p.V8A	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	78					cell cycle|signal transduction		protein binding			large_intestine(1)	1						CGGGAGCAGGTGCACCTCCCC	0.642													C	45478063	T	C	45478063	3	2	257	1	0	0	0	0	1	0	0	0	13088	1696	59	3	243	3	RASSF4	10	45478063	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	47815	45478063	90056684	952	127884											
ALOX5	240	broad.mit.edu	37	chr10	45907734	45907734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatagtgaaaaaggagTggactttgttctgaattact	11	3	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:45907734T>C	uc001jce.2	+	4	626	c.527T>C	c.(526-528)GTG>GCG	p.V176A	ALOX5_uc009xmt.2_Missense_Mutation_p.V176A|ALOX5_uc010qfg.1_Missense_Mutation_p.V176A	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	176	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			ovary(1)|pancreas(1)	2		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)	GAAAAAGGAGTGGACTTTGTT	0.522													C	45907734	T	C	45907734	3	2	257	1	0	0	0	0	1	0	0	0	540	1696	59	3	541	3	ALOX5	10	45907734	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	429671	45907734	89627013	953	127885											
RBP3	5949	broad.mit.edu	37	chr10	48388658	48388658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggtagcccagctggccGggcagcacctctgtcttgaa	13	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:48388658G>A	uc001jez.2	-	1	2334	c.2220C>T	c.(2218-2220)CCC>CCT	p.P740P		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	740	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CCAGCTGGCCGGGCAGCACCT	0.627													A	48388658	G	A	48388658	2	1	257	1	0	0	0	0	0	0	0	1	13157	1103	39	1		1	RBP3	10	48388658	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2480924	48388658	87146089	954	127886											
GDF10	2662	broad.mit.edu	37	chr10	48426628	48426628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccttcagaaccacattcCgattctcatccaggaagagg	7	13	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:48426628C>T	uc001jfb.2	-	3	1835	c.1379G>A	c.(1378-1380)CGG>CAG	p.R460Q	GDF10_uc009xnp.2_Missense_Mutation_p.R459Q	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	460					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						AACCACATTCCGATTCTCATC	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48426628	C	T	48426628	3	4	257	1	0	0	0	0	1	0	0	0	6311	652	23	1	61	1	GDF10	10	48426628	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	37970	48426628	87108119	955	127887											
GDF10	2662	broad.mit.edu	37	chr10	48429418	48429418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgggcggcctgaagcGttcttggcccgcggcttgca	17	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:48429418G>A	uc001jfb.2	-	2	924	c.468C>T	c.(466-468)AAC>AAT	p.N156N	GDF10_uc009xnp.2_Silent_p.N155N|GDF10_uc009xnq.1_Silent_p.N156N	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	156					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGCCTGAAGCGTTCTTGGCCC	0.667													A	48429418	G	A	48429418	2	1	257	1	0	0	0	0	0	0	0	1	6311	1136	40	1		1	GDF10	10	48429418	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2790	48429418	87105329	956	127888											
ARHGAP22	58504	broad.mit.edu	37	chr10	49658392	49658392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggcctcggagcggcGcgcgtgttcccgggtggggc	19	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:49658392G>A	uc001jgt.2	-	9	2077	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	ARHGAP22_uc001jgs.2_Missense_Mutation_p.R504C|ARHGAP22_uc001jgu.2_Missense_Mutation_p.R610C|ARHGAP22_uc010qgl.1_Missense_Mutation_p.R551C|ARHGAP22_uc010qgm.1_Missense_Mutation_p.R600C|ARHGAP22_uc001jgv.2_Missense_Mutation_p.R292C|ARHGAP22_uc001jgr.2_Missense_Mutation_p.R311C	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	594	Potential.				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			ovary(1)	1						TCGGAGCGGCGCGCGTGTTCC	0.682													A	49658392	G	A	49658392	3	1	257	1	0	0	0	0	1	0	0	0	872	1087	38	1	324	1	ARHGAP22	10	49658392	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1228974	49658392	85876355	957	127889											
C10orf71	118461	broad.mit.edu	37	chr10	50532147	50532147	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acatacagttcctcacctctCttgaaagtgcttgatgagaa	7	10	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:50532147C>A	uc010qgp.1	+	3	1896	c.1557C>A	c.(1555-1557)CTC>CTA	p.L519L		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	519											0						CCTCACCTCTCTTGAAAGTGC	0.507													A	50532147	C	A	50532147	2	1	257	1	0	0	0	0	0	0	0	1	1614	900	32	5		5	C10orf71	10	50532147	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	873755	50532147	85002600	958	127890											
OGDHL	55753	broad.mit.edu	37	chr10	50953529	50953529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcattgtggccacgcCggcggtaacagacctgcagg	12	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:50953529C>T	uc001jie.2	-	12	1632	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	OGDHL_uc009xog.2_Missense_Mutation_p.R524Q|OGDHL_uc010qgt.1_Missense_Mutation_p.R440Q|OGDHL_uc010qgu.1_Missense_Mutation_p.R288Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R288Q	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	497					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GTGGCCACGCCGGCGGTAACA	0.572													T	50953529	C	T	50953529	3	4	257	1	0	0	0	0	1	0	0	0	10840	652	23	1	1590	1	OGDHL	10	50953529	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	421382	50953529	84581218	959	127891											
ANK3	288	broad.mit.edu	37	chr10	61831926	61831926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtttgttaacaatttgcGttctctctcagtcacagaca	7	11	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:61831926G>A	uc001jky.2	-	37	8905	c.8713C>T	c.(8713-8715)CGC>TGC	p.R2905C	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2905					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AACAATTTGCGTTCTCTCTCA	0.358													A	61831926	G	A	61831926	3	1	257	1	0	0	0	0	1	0	0	0	622	1145	40	1	4761	1	ANK3	10	61831926	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	10878397	61831926	73702821	960	127892											
ANK3	288	broad.mit.edu	37	chr10	61833923	61833923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagtctcttctttaacaCgcatgcctttgcttaaaacc	6	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:61833923C>T	uc001jky.2	-	37	6908	c.6716G>A	c.(6715-6717)CGT>CAT	p.R2239H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2239					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTCTTTAACACGCATGCCTTT	0.413													T	61833923	C	T	61833923	3	4	257	1	0	0	0	0	1	0	0	0	622	536	19	1	6758	1	ANK3	10	61833923	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1997	61833923	73700824	961	127893											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648135	62648135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgatctgagccaggcccaCcaaatccttttccttttcat	6	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:62648135C>T	uc001jli.2	-	7	1729	c.1291G>A	c.(1291-1293)GTG>ATG	p.V431M	RHOBTB1_uc001jlh.2_Missense_Mutation_p.V431M|RHOBTB1_uc001jlj.2_Missense_Mutation_p.V431M|RHOBTB1_uc001jlk.2_Missense_Mutation_p.V431M|RHOBTB1_uc009xpe.1_Missense_Mutation_p.V369M|RHOBTB1_uc001jll.2_Missense_Mutation_p.V181M	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	431					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					GCCAGGCCCACCAAATCCTTT	0.502													T	62648135	C	T	62648135	3	4	257	1	0	0	0	0	1	0	0	0	13333	507	18	4	823	4	RHOBTB1	10	62648135	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	814212	62648135	72886612	962	127894											
ARID5B	84159	broad.mit.edu	37	chr10	63850705	63850705	+	Frame_Shift_Del	DEL	A	A	-													tcccagcagcagacatgaagAaaaaaatagaagggtatcag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:63850704_63850704GA>G	uc001jlt.2	+	9	1938	c.1482_1482GA>G	c.(1480-1482)aagfs	p.K494fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K251fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	494					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)					CAGACATGAAGAAAAAAATAG	0.438													-	63850705	A	-	63850705	7	5	257	1	0	1	0	1	0	0	0	0	922	247	9	0	1521	0	ARID5B	10	63850705	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1202570	63850705	71684042	963	127895											
EGR2	1959	broad.mit.edu	37	chr10	64573473	64573473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggtgtgggttataggCggcggcggcggcggctgctg	22	8	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:64573473C>T	uc010qim.1	-	3	1079	c.925G>A	c.(925-927)GCC>ACC	p.A309T	EGR2_uc010qin.1_Missense_Mutation_p.A259T|EGR2_uc001jmi.2_Missense_Mutation_p.A309T|EGR2_uc010qio.1_Missense_Mutation_p.A322T|EGR2_uc009xph.2_Missense_Mutation_p.A309T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	309	Poly-Ala.				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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTTATAGGCGGCGGCGGCG	0.701													T	64573473	C	T	64573473	3	4	257	1	0	0	0	0	1	0	0	0	4972	768	27	1	509	1	EGR2	10	64573473	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	722768	64573473	70961274	964	127896											
JMJD1C	221037	broad.mit.edu	37	chr10	64949189	64949189	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaagaatgttaggcatagtCcgtccacttttgctactcta	7	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:64949189C>T	uc001jmn.2	-	18	6609	c.6309G>A	c.(6307-6309)CGG>CGA	p.R2103R	JMJD1C_uc001jml.2_Silent_p.R1866R|JMJD1C_uc001jmm.2_Silent_p.R1815R|JMJD1C_uc010qiq.1_Silent_p.R1921R|JMJD1C_uc009xpi.2_Silent_p.R1921R|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.R10R	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2103					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAGGCATAGTCCGTCCACTTT	0.313													T	64949189	C	T	64949189	2	4	257	1	0	0	0	0	0	0	0	1	7950	842	30	4		4	JMJD1C	10	64949189	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	375716	64949189	70585558	965	127897											
DNAJC12	56521	broad.mit.edu	37	chr10	69565466	69565466	+	Frame_Shift_Del	DEL	T	T	-													tttgctcattacattcctcaTtttccatcttggtggtatga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:69565465_69565465AT>A	uc001jnb.3	-	3	546	c.378_378AT>T	c.(376-378)aatfs	p.N126fs	U6_uc021prq.1_5'Flank	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	126					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TACATTCCTCATTTTCCATCT	0.428													-	69565466	T	-	69565466	7	5	257	1	0	1	0	1	0	0	0	0	4631	1493	52	0	227	0	DNAJC12	10	69565466	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	4616277	69565466	65969281	966	127898											
SIRT1	23411	broad.mit.edu	37	chr10	69669161	69669161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcctcattgttattgGgtcttccctcaaagtaagac	7	11	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:69669161G>A	uc001jnd.2	+	7	1372	c.1319G>A	c.(1318-1320)GGG>GAG	p.G440E	SIRT1_uc010qis.1_Missense_Mutation_p.G145E|SIRT1_uc009xpp.2_Missense_Mutation_p.G248E|SIRT1_uc001jne.2_Missense_Mutation_p.G137E	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	440	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						ATTGTTATTGGGTCTTCCCTC	0.373													A	69669161	G	A	69669161	3	1	257	1	0	0	0	0	1	0	0	0	14337	1232	43	4	1345	4	SIRT1	10	69669161	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	103695	69669161	65865586	967	127899											
DDX50	79009	broad.mit.edu	37	chr10	70666693	70666693	+	Frame_Shift_Del	DEL	A	A	-													tggagatatagatgaatatgAaaaaaaatcaaagcgagtat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:70666692_70666692GA>G	uc001jou.3	+	1	420	c.313_313GA>G	c.(313-315)gaafs	p.E105fs	DDX50_uc001jot.3_Frame_Shift_Del_p.E105fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	105						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGATGAATATGAAAAAAAATC	0.308													-	70666693	A	-	70666693	7	5	257	1	0	1	0	1	0	0	0	0	4368	246	9	0	320	0	DDX50	10	70666693	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	997532	70666693	64868054	968	127900											
DDX50	79009	broad.mit.edu	37	chr10	70670982	70670982	+	Frame_Shift_Del	DEL	A	A	-													aaagaaatcaagaaacaattAaaaaaagccgctcaccaaag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:70670981_70670981TA>T	uc001jou.3	+	3	725	c.618_618TA>T	c.(616-618)attfs	p.I206fs	DDX50_uc001jot.3_Frame_Shift_Del_p.I206fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAACAATTAAAAAAAGCC	0.368													-	70670982	A	-	70670982	7	5	257	1	0	1	0	1	0	0	0	0	4368	363	13	0	633	0	DDX50	10	70670982	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	4289	70670982	64863765	969	127901											
TYSND1	219743	broad.mit.edu	37	chr10	71905285	71905285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggagccccatacggtgCcgcactccaccaacactgcc	8	20	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:71905285C>T	uc001jqr.2	-	1	1212	c.1058G>A	c.(1057-1059)GGC>GAC	p.G353D	TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.G353D|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	353	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						CCATACGGTGCCGCACTCCAC	0.721													T	71905285	C	T	71905285	3	4	257	1	0	0	0	0	1	0	0	0	16814	739	26	2	658	2	TYSND1	10	71905285	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1234303	71905285	63629462	970	127902											
LRRC20	55222	broad.mit.edu	37	chr10	72061118	72061119	+	Frame_Shift_Ins	INS	-	-	G													aggagggtggcctaaggtagINSgggggctcttgcgccttccg					rs149973737	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72061117_72061118A>AG	uc001jqx.1	-	4	769_770	c.547_548T>CT	c.(547-549)ctafs	p.L183fs	LRRC20_uc001jqy.1_Frame_Shift_Ins_p.L127fs|LRRC20_uc001jqz.1_Frame_Shift_Ins_p.L133fs	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	183								p.L183fs*>3(2)|p.P182H(1)		endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GGCCTAAGGTAGGGGGGCTCTT	0.658													G	72061119	-	G	72061118	7	5	257	1	0	1	1	0	0	0	0	0	8977	991	35	0	11	0	LRRC20	10	72061118	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	155833	72061118	63473629	971	127903											
KIAA1274	27143	broad.mit.edu	37	chr10	72300969	72300969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccacaactgcgatggtgGtggctgtcctggccttctgg	14	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72300969G>A	uc001jrd.3	+	16	2301	c.2020G>A	c.(2020-2022)GTG>ATG	p.V674M	KIAA1274_uc001jre.3_Translation_Start_Site	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	674										ovary(2)|central_nervous_system(1)	3						TGCGATGGTGGTGGCTGTCCT	0.627													A	72300969	G	A	72300969	3	1	257	1	0	0	0	0	1	0	0	0	8220	1261	44	4	2078	4	KIAA1274	10	72300969	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	239851	72300969	63233778	972	127904											
KIAA1274	27143	broad.mit.edu	37	chr10	72324139	72324139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaaggcagcgaaagaggCgcaagaaatgcggaggctgc	18	8	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72324139C>T	uc001jrd.3	+	19	2563	c.2282C>T	c.(2281-2283)GCG>GTG	p.A761V	KIAA1274_uc001jre.3_Missense_Mutation_p.A52V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	761										ovary(2)|central_nervous_system(1)	3						GCGAAAGAGGCGCAAGAAATG	0.617													T	72324139	C	T	72324139	3	4	257	1	0	0	0	0	1	0	0	0	8220	768	27	1	2352	1	KIAA1274	10	72324139	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	23170	72324139	63210608	973	127905											
PRF1	5551	broad.mit.edu	37	chr10	72358408	72358408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctcctcagtgcctcccGccgcgggtcctggctgtcca	12	19	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72358408G>A	uc009xqg.2	-	3	1230	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	PRF1_uc001jrf.3_Missense_Mutation_p.R357W	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	357	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						AGTGCCTCCCGCCGCGGGTCC	0.701			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				A	72358408	G	A	72358408	3	1	257	1	0	0	0	0	1	0	0	0	12478	1086	38	1	602	1	PRF1	10	72358408	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	34269	72358408	63176339	974	127906											
ADAMTS14	140766	broad.mit.edu	37	chr10	72493711	72493711	+	Frame_Shift_Del	DEL	C	C	-													gcctgggcagcgtcatggcgCccctggtgcaggctgccttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72493710_72493710GC>G	uc001jrg.3	+	7	1287	c.1287_1287GC>G	c.(1285-1287)gcgfs	p.A429fs	ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.A426fs|ADAMTS14_uc001jri.1_5'Flank	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	426	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						GCGTCATGGCGCCCCTGGTGC	0.627													-	72493711	C	-	72493711	7	5	257	1	0	1	0	1	0	0	0	0	259	739	26	0	1318	0	ADAMTS14	10	72493711	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	135303	72493711	63041036	975	127907											
ADAMTS14	140766	broad.mit.edu	37	chr10	72520166	72520166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgccagatggaagtgctcGatcgctactgctccattccc	9	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72520166G>A	uc001jrh.2	+	22	3229	c.3229G>A	c.(3229-3231)GAT>AAT	p.D1077N	ADAMTS14_uc001jrg.2_Missense_Mutation_p.D1080N	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1077	PLAC.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GGAAGTGCTCGATCGCTACTG	0.512													A	72520166	G	A	72520166	3	1	257	1	0	0	0	0	1	0	0	0	259	1058	37	1	3324	1	ADAMTS14	10	72520166	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	26455	72520166	63014581	976	127908											
CHST3	9469	broad.mit.edu	37	chr10	73767333	73767333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggggggcgccaacgccGcgggctcggccctggtgtac	18	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:73767333G>A	uc001jsn.2	+	3	984	c.544G>A	c.(544-546)GCG>ACG	p.A182T		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	182	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						CGCCAACGCCGCGGGCTCGGC	0.652													A	73767333	G	A	73767333	3	1	257	1	0	0	0	0	1	0	0	0	3405	1087	38	1	550	1	CHST3	10	73767333	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1247167	73767333	61767414	977	127909											
CCDC109A	90550	broad.mit.edu	37	chr10	74645550	74645550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccattacaagtacatctGcctctccgacaaattggtga	7	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:74645550G>A	uc001jtc.2	+	8	1047	c.1026G>A	c.(1024-1026)CTG>CTA	p.L342L	CCDC109A_uc009xqr.2_Silent_p.L321L|CCDC109A_uc001jtd.2_Silent_p.L293L	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	342	Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					AAGTACATCTGCCTCTCCGAC	0.398													A	74645550	G	A	74645550	2	1	257	1	0	0	0	0	0	0	0	1	2744	1306	46	2		2	CCDC109A	10	74645550	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	878217	74645550	60889197	978	127910											
KIAA0913	23053	broad.mit.edu	37	chr10	75545818	75545818	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactggcggcggtggcggagGtggcagtggcggtaccagaa	20	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75545818G>T	uc009xrl.2	+	1	214	c.182G>T	c.(181-183)GGT>GTT	p.G61V	KIAA0913_uc009xrk.1_3'UTR|KIAA0913_uc001jve.2_Missense_Mutation_p.G61V|KIAA0913_uc001jvf.2_Missense_Mutation_p.G61V|uc009xrm.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	61	Poly-Gly.						zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGTGGCGGAGGTGGCAGTGGC	0.677													T	75545818	G	T	75545818	3	4	257	1	0	0	0	0	1	0	0	0	8200	1261	44	5	184	5	KIAA0913	10	75545818	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	900268	75545818	59988929	979	127911											
NDST2	8509	broad.mit.edu	37	chr10	75567575	75567575	+	Frame_Shift_Del	DEL	A	A	-													ggagccccaagtttgagtgtAaaaaaaggggaaagcccttg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75567574_75567574TA>T	uc001jvk.2	-	2	1377	c.573_573TA>A	c.(571-573)ttafs	p.L191fs	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Del_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Del_p.L68fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	191	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L191fs*12(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGTTTGAGTGTAAAAAAAGGG	0.587													-	75567575	A	-	75567575	7	5	257	1	0	1	0	1	0	0	0	0	10256	372	13	0	2131	0	NDST2	10	75567575	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	21757	75567575	59967172	980	127912											
VCL	7414	broad.mit.edu	37	chr10	75832550	75832550	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcactcaccaggagcacCgagtgatgttggtgaactcg	12	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75832550C>T	uc001jwd.2	+	5	656	c.562C>T	c.(562-564)CGA>TGA	p.R188*	VCL_uc009xrr.2_5'UTR|VCL_uc010qky.1_Nonsense_Mutation_p.R95*|VCL_uc001jwe.2_Nonsense_Mutation_p.R188*|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	188	N-terminal globular head.|Talin-interaction (By similarity).				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)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					CCAGGAGCACCGAGTGATGTT	0.473													T	75832550	C	T	75832550	4	4	257	1	0	0	0	0	0	1	0	0	17136	644	23	1	580	1	VCL	10	75832550	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	264975	75832550	59702197	981	127913											
VCL	7414	broad.mit.edu	37	chr10	75848967	75848967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagaggacaaggatccTcaccggtggccatgcagaaa	13	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75848967T>C	uc001jwd.2	+	9	1130	c.1036T>C	c.(1036-1038)TCA>CCA	p.S346P	VCL_uc009xrr.2_Missense_Mutation_p.S95P|VCL_uc010qky.1_Missense_Mutation_p.S253P|VCL_uc001jwe.2_Missense_Mutation_p.S346P|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	346	1.|N-terminal globular head.|3 X 112 AA tandem repeats.				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)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					ACAAGGATCCTCACCGGTGGC	0.468													C	75848967	T	C	75848967	3	2	257	1	0	0	0	0	1	0	0	0	17136	1551	54	3	1070	3	VCL	10	75848967	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	16417	75848967	59685780	982	127914											
DLG5	9231	broad.mit.edu	37	chr10	79556237	79556237	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgcagaacttgccaggAgcctcattcaccagcatctc	7	15	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:79556237A>C	uc001jzk.2	-	28	5350	c.5280T>G	c.(5278-5280)GCT>GCG	p.A1760A	DLG5_uc001jzi.2_Silent_p.A515A|DLG5_uc001jzj.2_Silent_p.A1175A|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1760	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	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)			ACTTGCCAGGAGCCTCATTCA	0.602													C	79556237	A	C	79556237	2	2	257	1	0	0	0	0	0	0	0	1	4558	291	11	5		5	DLG5	10	79556237	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	3707270	79556237	55978510	983	127915											
DLG5	9231	broad.mit.edu	37	chr10	79581284	79581285	+	Frame_Shift_Ins	INS	-	-	G													gaagcaggtagtctattttgINSgggggtgtctgggggcgttt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:79581283_79581284T>TG	uc001jzk.3	-	14	3028_3029	c.2958_2959A>CA	c.(2956-2961)cccaaafs	p.P986fs	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Frame_Shift_Ins_p.P590fs	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	986	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)			TAGTCTATTTTGGGGGGTGTCT	0.559													G	79581285	-	G	79581284	7	5	257	1	0	1	1	0	0	0	0	0	4558	1335	47	0	2873	0	DLG5	10	79581284	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	25047	79581284	55953463	984	127916											
ZMIZ1	57178	broad.mit.edu	37	chr10	81067236	81067236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacatccatgaatgacttcAtgcacgggcccccccagctc	9	16	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:81067236A>G	uc001kaf.2	+	23	3315	c.2743A>G	c.(2743-2745)ATG>GTG	p.M915V	ZMIZ1_uc001kag.2_Missense_Mutation_p.M791V|ZMIZ1_uc010qlq.1_Missense_Mutation_p.M68V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	915	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	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)			GAATGACTTCATGCACGGGCC	0.607													G	81067236	A	G	81067236	3	3	257	1	0	0	0	0	1	0	0	0	17693	217	8	3	2817	3	ZMIZ1	10	81067236	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1485952	81067236	54467511	985	127917											
NRG3	10718	broad.mit.edu	37	chr10	83635508	83635508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccaccacgtcccccGccaccccctccgccgggggt	8	24	0	0	rs150882245	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:83635508G>A	uc001kco.2	+	1	439	c.412G>A	c.(412-414)GCC>ACC	p.A138T	NRG3_uc010qlz.1_Missense_Mutation_p.A138T|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	138	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		cacgtcccccgccaccccctc	0.517													A	83635508	G	A	83635508	3	1	257	1	0	0	0	0	1	0	0	0	10649	1087	38	1	414	1	NRG3	10	83635508	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2568272	83635508	51899239	986	127918											
LRIT1	26103	broad.mit.edu	37	chr10	85994017	85994017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccactccggccaggctaCgtgggctggcacatctcagt	13	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:85994017C>T	uc001kcz.1	-	3	729	c.707G>A	c.(706-708)CGT>CAT	p.R236H		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	236	LRRCT.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GGCCAGGCTACGTGGGCTGGC	0.587													T	85994017	C	T	85994017	3	4	257	1	0	0	0	0	1	0	0	0	8947	536	19	1	1172	1	LRIT1	10	85994017	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2358509	85994017	49540730	987	127919											
RGR	5995	broad.mit.edu	37	chr10	86008679	86008679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagtgtctcccacaggCgctggccctacggctcggac	12	17	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:86008679C>T	uc001kdc.1	+	3	276	c.238C>T	c.(238-240)CGC>TGC	p.R80C	RGR_uc001kdb.1_Missense_Mutation_p.A67V|RGR_uc001kdd.1_Missense_Mutation_p.R84C|RGR_uc001kde.1_Missense_Mutation_p.R80C	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	80	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						CTCCCACAGGCGCTGGCCCTA	0.637													T	86008679	C	T	86008679	3	4	257	1	0	0	0	0	1	0	0	0	13291	782	27	1	260	1	RGR	10	86008679	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	14662	86008679	49526068	988	127920											
LDB3	11155	broad.mit.edu	37	chr10	88476506	88476506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccggactccactctgcGgtcactgcaacaatgtcatc	9	15	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:88476506G>A	uc001kdv.2	+	9	1677	c.1654G>A	c.(1654-1656)GGT>AGT	p.G552S	LDB3_uc010qml.1_Missense_Mutation_p.G489S|LDB3_uc010qmm.1_Missense_Mutation_p.G557S|LDB3_uc001kdu.2_Missense_Mutation_p.G442S|LDB3_uc009xsz.2_Missense_Mutation_p.G181S|LDB3_uc009xta.1_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	552	LIM zinc-binding 1.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						TCCACTCTGCGGTCACTGCAA	0.657													A	88476506	G	A	88476506	3	1	257	1	0	0	0	0	1	0	0	0	8697	1116	39	1	2024	1	LDB3	10	88476506	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2467827	88476506	47058241	989	127921											
RNLS	55328	broad.mit.edu	37	chr10	90342849	90342849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtcctcagccttgtcCcacacagcaaggtacaaggg	10	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:90342849C>A	uc001kfe.2	-	1	234	c.99G>T	c.(97-99)TGG>TGT	p.W33C	RNLS_uc010qms.1_Missense_Mutation_p.W33C|RNLS_uc001kfd.2_Missense_Mutation_p.W33C	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	33						extracellular region	oxidoreductase activity			ovary(1)	1						CAGCCTTGTCCCACACAGCAA	0.622											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	90342849	C	A	90342849	3	1	257	1	0	0	0	0	1	0	0	0	13505	624	22	5	1033	5	RNLS	10	90342849	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1866343	90342849	45191898	990	127922											
IFIT2	3433	broad.mit.edu	37	chr10	91066050	91066050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgggccgactctcagacGttcagatttatgtagacaag	10	9	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:91066050G>A	uc009xts.2	+	2	512	c.337G>A	c.(337-339)GTT>ATT	p.V113I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	113					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				ACTCTCAGACGTTCAGATTTA	0.483													A	91066050	G	A	91066050	3	1	257	1	0	0	0	0	1	0	0	0	7523	1145	40	1	343	1	IFIT2	10	91066050	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	723201	91066050	44468697	991	127923											
HTR7	3363	broad.mit.edu	37	chr10	92502258	92502258	+	Frame_Shift_Del	DEL	T	T	-													ttcaatcatgaatcatgaccTttttttctacagtagtcagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:92502257_92502257CT>C	uc001kha.3	-	3	1665	c.1422_1422AG>G	c.(1420-1422)aagfs	p.K474fs	HTR7_uc001kgz.3_Frame_Shift_Del_p.G442fs|HTR7_uc001khb.3_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	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)	GAATCATGACCTTTTTTTCTA	0.328													-	92502258	T	-	92502258	7	5	257	1	0	1	0	1	0	0	0	0	7452	1609	56	0	22	0	HTR7	10	92502258	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1436208	92502258	43032489	992	127924											
BTAF1	9044	broad.mit.edu	37	chr10	93768864	93768864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccttagtggtttgtccGccaacattaacaggccattg	8	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:93768864G>A	uc001khr.2	+	28	4100	c.4002G>A	c.(4000-4002)CCG>CCA	p.P1334P		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1334	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408													A	93768864	G	A	93768864	2	1	257	1	0	0	0	0	0	0	0	1	1536	1074	38	1		1	BTAF1	10	93768864	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1266606	93768864	41765883	993	127925											
KIF11	3832	broad.mit.edu	37	chr10	94409745	94409745	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagagacaattccggTaaatttaaaggatcatattt	7	5	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:94409745T>C	uc001kic.2	+	20	3230	c.2922_splice	c.e20+2	p.P974_splice	KIF11_uc010qnq.1_Splice_Site	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11						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			skin(1)	1						ACAATTCCGGTAAATTTAAAG	0.363													C	94409745	T	C	94409745	5	2	257	1	0	0	0	0	0	0	1	0	8272	1652	57	3	3002	3	KIF11	10	94409745	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	640881	94409745	41125002	994	127926											
PLCE1	51196	broad.mit.edu	37	chr10	96005895	96005895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacggtcatccactacgaCcaggacacacacctctctgc	7	18	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96005895C>T	uc001kjk.2	+	8	3247	c.2613C>T	c.(2611-2613)GAC>GAT	p.D871D	PLCE1_uc010qnx.1_Silent_p.D871D|PLCE1_uc001kjm.2_Silent_p.D563D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	871					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			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCCACTACGACCAGGACACAC	0.607													T	96005895	C	T	96005895	2	4	257	1	0	0	0	0	0	0	0	1	12034	506	18	4		4	PLCE1	10	96005895	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1596150	96005895	39528852	995	127927											
PLCE1	51196	broad.mit.edu	37	chr10	96076482	96076482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttccagaagagggatacaTgggcaggattgtcttaaaaa	12	5	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96076482T>C	uc001kjk.2	+	29	6945	c.6311T>C	c.(6310-6312)ATG>ACG	p.M2104T	PLCE1_uc010qnx.1_Missense_Mutation_p.M2088T|PLCE1_uc001kjm.2_Missense_Mutation_p.M1796T|PLCE1_uc001kjp.2_Missense_Mutation_p.M462T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2104	Ras-associating 1.				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			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GAGGGATACATGGGCAGGATT	0.438													C	96076482	T	C	96076482	3	2	257	1	0	0	0	0	1	0	0	0	12034	1464	51	3	6707	3	PLCE1	10	96076482	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	70587	96076482	39458265	996	127928											
NOC3L	64318	broad.mit.edu	37	chr10	96117058	96117058	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttatctataatgcgttcAtgcttccgtttcttcgcatg	6	9	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96117058A>G	uc001kjq.1	-	4	469	c.381T>C	c.(379-381)CAT>CAC	p.H127H	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	127						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TAATGCGTTCATGCTTCCGTT	0.348													G	96117058	A	G	96117058	2	3	257	1	0	0	0	0	0	0	0	1	10514	214	8	3		3	NOC3L	10	96117058	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	40576	96117058	39417689	997	127929											
HELLS	3070	broad.mit.edu	37	chr10	96352252	96352252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgatgggtccatgtcttActcagagagagaaaaaaacg	11	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96352252A>G	uc001kjt.2	+	17	2057	c.1952A>G	c.(1951-1953)TAC>TGC	p.Y651C	HELLS_uc001kjs.2_Missense_Mutation_p.Y635C|HELLS_uc009xul.2_Missense_Mutation_p.Y553C|HELLS_uc009xum.2_Missense_Mutation_p.Y521C|HELLS_uc009xun.2_Missense_Mutation_p.Y527C|HELLS_uc009xuo.2_Missense_Mutation_p.Y697C|HELLS_uc001kju.2_Missense_Mutation_p.Y290C|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.Y513C|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	651	Helicase C-terminal.				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			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TCCATGTCTTACTCAGAGAGA	0.353													G	96352252	A	G	96352252	3	3	257	1	0	0	0	0	1	0	0	0	7046	391	14	3	2018	3	HELLS	10	96352252	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	235194	96352252	39182495	998	127930											
LCOR	84458	broad.mit.edu	37	chr10	98715288	98715288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaagtagaaaaagcaTgttagatgctggacccgatt	9	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:98715288T>C	uc001kms.1	+	8	1432	c.911T>C	c.(910-912)ATG>ACG	p.M304T	LCOR_uc001kmr.2_Missense_Mutation_p.M304T|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.M304T|LCOR_uc001kmu.1_Missense_Mutation_p.M304T	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	304						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AGAAAAAGCATGTTAGATGCT	0.468													C	98715288	T	C	98715288	3	2	257	1	0	0	0	0	1	0	0	0	8689	1464	51	3	921	3	LCOR	10	98715288	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2363036	98715288	36819459	999	127931											
SLIT1	6585	broad.mit.edu	37	chr10	98763959	98763959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcaacggtgtggaattgcCcatcgttgatcgtctcagca	11	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:98763959C>A	uc001kmw.2	-	34	3983	c.3731G>T	c.(3730-3732)GGG>GTG	p.G1244V		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1244	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			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTGGAATTGCCCATCGTTGAT	0.557													A	98763959	C	A	98763959	3	1	257	1	0	0	0	0	1	0	0	0	14739	623	22	5	889	5	SLIT1	10	98763959	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	48671	98763959	36770788	1000	127932											
ZDHHC16	84287	broad.mit.edu	37	chr10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-													gcatcgaaaggcacatcaacAagaaggagagacgtcggcta							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:99215504_99215506CAAG>C	uc001knj.3	+	9	1278_1280	c.912_914CAAG>C	c.(910-915)aacaag>aaCg	p.K306del	ZDHHC16_uc001knk.3_In_Frame_Del_p.K306del|ZDHHC16_uc001knl.3_In_Frame_Del_p.K290del|ZDHHC16_uc001knm.3_In_Frame_Del_p.K225del|ZDHHC16_uc001knn.3_In_Frame_Del_p.K267del|ZDHHC16_uc010qow.2_In_Frame_Del_p.K288del	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA.	306					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)		GGCACATCAACAAGAAGGAGAGA	0.532													-	99215507	AAG	-	99215505	7	5	257	1	0	1	0	1	0	0	0	0	17603	131	5	0	943	0	ZDHHC16	10	99215505	In_Frame_Del	DEL	AAG	TCGA-HU-8602-01A-11D-2394-08	451546	99215505	36319242	1001	127933											
CPN1	1369	broad.mit.edu	37	chr10	101841263	101841263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgatgccggggcattcGttttgcaccttgtacagcgt	13	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:101841263G>A	uc001kql.2	-	1	380	c.120C>T	c.(118-120)AAC>AAT	p.N40N		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	40	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGGGGCATTCGTTTTGCACCT	0.592													A	101841263	G	A	101841263	2	1	257	1	0	0	0	0	0	0	0	1	3809	1136	40	1		1	CPN1	10	101841263	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2625758	101841263	33693484	1002	127934											
SEC31B	25956	broad.mit.edu	37	chr10	102255254	102255254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagactgttggcccaagacaGcagaaccttgagcatgaaaa	11	9	0	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:102255254G>A	uc001krc.1	-	19	2462	c.2360C>T	c.(2359-2361)GCT>GTT	p.A787V	SEC31B_uc010qpo.1_Missense_Mutation_p.A786V|SEC31B_uc001krd.1_Missense_Mutation_p.A324V|SEC31B_uc001krf.1_Missense_Mutation_p.A324V|SEC31B_uc001kre.1_Missense_Mutation_p.A324V|SEC31B_uc001krg.1_Missense_Mutation_p.A356V	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	787					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCCCAAGACAGCAGAACCTTG	0.473													A	102255254	G	A	102255254	3	1	257	1	0	0	0	0	1	0	0	0	13999	971	34	2	1211	2	SEC31B	10	102255254	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	413991	102255254	33279493	1003	127935											
LZTS2	84445	broad.mit.edu	37	chr10	102763509	102763509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccatcagggacgctatcCgactctggccgaaactcact	9	15	3	0	rs78785945	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:102763509C>T	uc001ksj.2	+	3	723	c.654C>T	c.(652-654)TCC>TCT	p.S218S	LZTS2_uc010qpw.1_Silent_p.S218S|LZTS2_uc001ksk.2_Silent_p.S218S|LZTS2_uc001ksl.2_Silent_p.S218S|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	218	Ser-rich.|Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGACGCTATCCGACTCTGGCC	0.552													T	102763509	C	T	102763509	2	4	257	1	0	0	0	0	0	0	0	1	9139	639	23	1		1	LZTS2	10	102763509	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	508255	102763509	32771238	1004	127936											
FBXW4	6468	broad.mit.edu	37	chr10	103371071	103371071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttttgaaaatccaggaCgtggaggttgtaagacaggg	16	4	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:103371071C>T	uc001kto.2	-	9	1562	c.1216G>A	c.(1216-1218)GTC>ATC	p.V406I		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	406					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AAATCCAGGACGTGGAGGTTG	0.597													T	103371071	C	T	103371071	3	4	257	1	0	0	0	0	1	0	0	0	5767	536	19	1	26	1	FBXW4	10	103371071	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	607562	103371071	32163676	1005	127937											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362558	105362558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggagcctcggaggccGtctgcgggggcagctccgaa	17	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:105362558G>A	uc001kxj.1	-	14	2473	c.2333C>T	c.(2332-2334)ACG>ATG	p.T778M	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.T613M|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.T655M|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.T613M|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.T721M	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	806					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		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)		CTCGGAGGCCGTCTGCGGGGG	0.627													A	105362558	G	A	105362558	3	1	257	1	0	0	0	0	1	0	0	0	14256	1145	40	1	988	1	SH3PXD2A	10	105362558	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1991487	105362558	30172189	1006	127938											
COL17A1	1308	broad.mit.edu	37	chr10	105799276	105799276	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtccgaaagaactggaCcctggaagccaacaacacac	9	12	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:105799276C>A	uc001kxr.2	-	43	2992	c.2823G>T	c.(2821-2823)GGG>GGT	p.G941G		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	941	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		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)		AAGAACTGGACCCTGGAAGCC	0.602													A	105799276	C	A	105799276	2	1	257	1	0	0	0	0	0	0	0	1	3674	521	18	5		5	COL17A1	10	105799276	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	436718	105799276	29735471	1007	127939											
SORCS1	114815	broad.mit.edu	37	chr10	108447970	108447971	+	Frame_Shift_Ins	INS	-	-	C													agcaagcagtgcacggggtcINScccccttagatccgtgtccg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:108447969_108447970T>TC	uc001kyl.3	-	9	1722_1723	c.1540_1541A>GA	c.(1540-1542)gacfs	p.D514fs	SORCS1_uc021pxw.1_Frame_Shift_Ins_p.D514fs|SORCS1_uc009xxs.3_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kym.3_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kyn.2_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kyo.3_Frame_Shift_Ins_p.D514fs	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	514						integral to membrane	neuropeptide receptor activity|protein binding	p.G513G(1)		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)		GTGCACGGGGTCCCCCCTTAGA	0.49													C	108447971	-	C	108447970	7	5	257	1	0	1	1	0	0	0	0	0	14930	855	30	0	2268	0	SORCS1	10	108447970	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2648694	108447970	27086777	1008	127940											
SORCS1	114815	broad.mit.edu	37	chr10	108923764	108923764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagtggaccatggcttggTtgtgtgctgagtctcccgtc	13	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:108923764T>C	uc001kym.2	-	1	529	c.521A>G	c.(520-522)AAC>AGC	p.N174S	SORCS1_uc001kyl.2_Missense_Mutation_p.N174S|SORCS1_uc009xxs.2_Missense_Mutation_p.N174S|SORCS1_uc001kyn.1_Missense_Mutation_p.N174S|SORCS1_uc001kyo.2_Missense_Mutation_p.N174S	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	174	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATGGCTTGGTTGTGTGCTGA	0.592													C	108923764	T	C	108923764	3	2	257	1	0	0	0	0	1	0	0	0	14930	1725	60	3	3323	3	SORCS1	10	108923764	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	475794	108923764	26610983	1009	127941											
MXI1	4601	broad.mit.edu	37	chr10	111987987	111987987	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcattcccgtccatgccGagcccccgactgcagcattc	7	18	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:111987987G>A	uc001kza.2	+	2	321	c.114G>A	c.(112-114)CCG>CCA	p.P38P	MXI1_uc001kyy.2_Silent_p.P105P|MXI1_uc001kyz.2_Silent_p.P2P|MXI1_uc010qrc.1_Silent_p.P38P|MXI1_uc009xxu.2_Silent_p.P35P|MXI1_uc009xxv.2_RNA	NM_005962	NP_005953	P50539	MXI1_HUMAN	MAX interactor 1 isoform a	38					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0		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)		CGTCCATGCCGAGCCCCCGAC	0.527													A	111987987	G	A	111987987	2	1	257	1	0	0	0	0	0	0	0	1	10002	1045	37	1		1	MXI1	10	111987987	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3064223	111987987	23546760	1010	127942											
TECTB	6975	broad.mit.edu	37	chr10	114045827	114045827	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtctcctttctttgtccAgtacaagccacctatctatc	4	14	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:114045827A>G	uc001kzr.1	+	3	268	c.268_splice	c.e3-2	p.Y90_splice		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor							anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCTTTGTCCAGTACAAGCCA	0.463													G	114045827	A	G	114045827	5	3	257	1	0	0	0	0	0	0	1	0	15745	202	7	3	276	3	TECTB	10	114045827	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2057840	114045827	21488920	1011	127943											
ACSL5	51703	broad.mit.edu	37	chr10	114136115	114136117	+	In_Frame_Del	DEL	GAA	GAA	-													tggaggaaccacgagcgaggGaagaaggacagggactcgtg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:114136114_114136116GGAA>G	uc001kzu.3	+	0	159_161	c.47_49GGAA>G	c.(46-51)gggaag>gGag	p.K18del	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					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	p.G16V(1)		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)		CACGAGCGAGGGAAGAAGGACAG	0.626													-	114136117	GAA	-	114136115	7	5	257	1	0	1	0	1	0	0	0	0	180	1161	41	0	50	0	ACSL5	10	114136115	In_Frame_Del	DEL	GAA	TCGA-HU-8602-01A-11D-2394-08	90288	114136115	21398632	1012	127944											
NRAP	4892	broad.mit.edu	37	chr10	115365607	115365607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgagcacgaagattacGccaggactctttgtatcttg	10	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:115365607G>A	uc001laj.2	-	34	3993	c.3829C>T	c.(3829-3831)CGT>TGT	p.R1277C	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R1242C|NRAP_uc001lal.3_Missense_Mutation_p.R1277C	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1277	Nebulin 33.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGAAGATTACGCCAGGACTCT	0.448													A	115365607	G	A	115365607	3	1	257	1	0	0	0	0	1	0	0	0	10638	1087	38	1	1399	1	NRAP	10	115365607	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1229492	115365607	20169140	1013	127945											
NRAP	4892	broad.mit.edu	37	chr10	115365959	115365959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcaggttggctgcattcGtttttgctcggatgaactcg	11	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:115365959G>A	uc001laj.2	-	33	3949	c.3785C>T	c.(3784-3786)ACG>ATG	p.T1262M	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.T1227M|NRAP_uc001lal.3_Missense_Mutation_p.T1262M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1262	Nebulin 33.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCTGCATTCGTTTTTGCTCG	0.458													A	115365959	G	A	115365959	3	1	257	1	0	0	0	0	1	0	0	0	10638	1145	40	1	1447	1	NRAP	10	115365959	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	352	115365959	20168788	1014	127946											
NHLRC2	374354	broad.mit.edu	37	chr10	115661633	115661633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagcagtgaagcacctcGtaggaggagaaagagacccc	14	9	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:115661633G>A	uc001lax.1	+	7	1560	c.1348G>A	c.(1348-1350)GTA>ATA	p.V450I	NHLRC2_uc001lay.1_RNA	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	450					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		GAAGCACCTCGTAGGAGGAGA	0.473													A	115661633	G	A	115661633	3	1	257	1	0	0	0	0	1	0	0	0	10406	1145	40	1	1374	1	NHLRC2	10	115661633	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	295674	115661633	19873114	1015	127947											
ABLIM1	3983	broad.mit.edu	37	chr10	116198969	116198969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgggcatagacactcctCggtccattctcattgcaggc	10	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:116198969C>T	uc010qsg.1	-	20	2207	c.2108G>A	c.(2107-2109)CGA>CAA	p.R703Q	ABLIM1_uc010qsh.1_Missense_Mutation_p.R671Q|ABLIM1_uc010qsi.1_Missense_Mutation_p.R643Q|ABLIM1_uc010qsf.1_Missense_Mutation_p.R380Q	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	703					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGACACTCCTCGGTCCATTCT	0.473													T	116198969	C	T	116198969	3	4	257	1	0	0	0	0	1	0	0	0	94	884	31	1	240	1	ABLIM1	10	116198969	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	537336	116198969	19335778	1016	127948											
HSPA12A	259217	broad.mit.edu	37	chr10	118441370	118441370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccgactctgccgattaCgccgtatgtgttccttagct	10	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:118441370C>T	uc001lct.2	-	8	959	c.854G>A	c.(853-855)CGT>CAT	p.R285H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R202H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	285							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CTGCCGATTACGCCGTATGTG	0.473											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118441370	C	T	118441370	3	4	257	1	0	0	0	0	1	0	0	0	7404	536	19	1	1193	1	HSPA12A	10	118441370	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2242401	118441370	17093377	1017	127949											
KCNK18	338567	broad.mit.edu	37	chr10	118960782	118960782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctctttttctgctgcacGgtgttcagcaccgtgggtaa	11	11	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:118960782G>A	uc010qsr.1	+	2	336	c.336G>A	c.(334-336)ACG>ACA	p.T112T		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	112						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		TCTGCTGCACGGTGTTCAGCA	0.562													A	118960782	G	A	118960782	2	1	257	1	0	0	0	0	0	0	0	1	8065	1103	39	1		1	KCNK18	10	118960782	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	519412	118960782	16573965	1018	127950											
PDZD8	118987	broad.mit.edu	37	chr10	119043937	119043937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcagattgcgtagtgcGgttctagtgactatagcctt	10	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:119043937G>A	uc001lde.1	-	5	2506	c.2307C>T	c.(2305-2307)ACC>ACT	p.T769T		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	769					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TGCGTAGTGCGGTTCTAGTGA	0.408													A	119043937	G	A	119043937	2	1	257	1	0	0	0	0	0	0	0	1	11705	1103	39	1		1	PDZD8	10	119043937	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	83155	119043937	16490810	1019	127951											
BAG3	9531	broad.mit.edu	37	chr10	121429488	121429488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctgtgctccatgaaggCgctgagaaccggcaggtgca	13	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:121429488C>T	uc001lem.2	+	2	612	c.306C>T	c.(304-306)GGC>GGT	p.G102G	BAG3_uc001lel.2_Silent_p.G102G	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	102					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TCCATGAAGGCGCTGAGAACC	0.637													T	121429488	C	T	121429488	2	4	257	1	0	0	0	0	0	0	0	1	1288	755	27	1		1	BAG3	10	121429488	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2385551	121429488	14105259	1020	127952											
SEC23IP	11196	broad.mit.edu	37	chr10	121663641	121663641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggcacggatggagggcGctacgatgtttacctctatg	13	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:121663641G>A	uc001leu.1	+	4	1025	c.953G>A	c.(952-954)CGC>CAC	p.R318H	SEC23IP_uc010qtc.1_Missense_Mutation_p.R107H	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	318	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GATGGAGGGCGCTACGATGTT	0.483													A	121663641	G	A	121663641	3	1	257	1	0	0	0	0	1	0	0	0	13993	1087	38	1	967	1	SEC23IP	10	121663641	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	234153	121663641	13871106	1021	127953											
FGFR2	2263	broad.mit.edu	37	chr10	123274774	123274774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaagaagacccctatgcAgtaaatggctatctccaggt	9	9	1	2	rs121913474		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:123274774A>G	uc010qtk.1	-	9	1791	c.1144T>C	c.(1144-1146)TGC>CGC	p.C382R	FGFR2_uc010qtg.1_Missense_Mutation_p.C270R|FGFR2_uc010qth.1_Missense_Mutation_p.C267R|FGFR2_uc010qti.1_Missense_Mutation_p.C293R|FGFR2_uc010qtj.1_Missense_Mutation_p.C383R|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.C267R|FGFR2_uc001lfl.3_Missense_Mutation_p.C383R|FGFR2_uc001lfm.2_Missense_Mutation_p.C294R|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	382	Helical; (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.C382R(2)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ACCCCTATGCAGTAAATGGCT	0.512	C382R(JHUEM2_ENDOMETRIUM)	5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				G	123274774	A	G	123274774	3	3	257	1	0	0	0	0	1	0	0	0	5866	188	7	3	1465	3	FGFR2	10	123274774	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1611133	123274774	12259973	1022	127954											
TACC2	10579	broad.mit.edu	37	chr10	123970676	123970676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccggaggcaggggaggtaAccccatcggatagcgggggg	19	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:123970676A>G	uc001lfv.2	+	9	7096	c.6736A>G	c.(6736-6738)ACC>GCC	p.T2246A	TACC2_uc001lfw.2_Missense_Mutation_p.T392A|TACC2_uc009xzx.2_Missense_Mutation_p.T2201A|TACC2_uc010qtv.1_Missense_Mutation_p.T2250A|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.T324A|TACC2_uc001lga.2_Missense_Mutation_p.T324A|TACC2_uc009xzy.2_Missense_Mutation_p.T324A|TACC2_uc001lgb.2_Missense_Mutation_p.T281A|TACC2_uc010qtw.1_Missense_Mutation_p.T341A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2246						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGGAGGTAACCCCATCGGA	0.607													G	123970676	A	G	123970676	3	3	257	1	0	0	0	0	1	0	0	0	15499	43	2	3	6838	3	TACC2	10	123970676	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	695902	123970676	11564071	1023	127955											
DMBT1	1755	broad.mit.edu	37	chr10	124358347	124358347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgacaggtgtcagggccGagtggaggtcctataccaag	16	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:124358347G>A	uc001lgk.1	+	26	3120	c.3014G>A	c.(3013-3015)CGA>CAA	p.R1005Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R995Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R506Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R1005Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1005	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGGGCCGAGTGGAGGTC	0.567													A	124358347	G	A	124358347	3	1	257	1	0	0	0	0	1	0	0	0	4577	1058	37	1	3116	1	DMBT1	10	124358347	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	387671	124358347	11176400	1024	127956											
BUB3	9184	broad.mit.edu	37	chr10	124921819	124921821	+	In_Frame_Del	DEL	AGA	AGA	-													ggacccaagccctgaggtacAgaagaagaagtatgccttca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:124921818_124921820CAGA>C	uc001lhe.2	+	5	885_887	c.643_645CAGA>C	c.(643-645)cag>C	p.Q215del	BUB3_uc009yah.2_In_Frame_Del_p.Q167del|BUB3_uc001lhf.4_In_Frame_Del_p.Q215del|BUB3_uc001lhd.2_In_Frame_Del_p.Q215del|BUB3_uc010qud.1_In_Frame_Del_p.Q135del	NM_004725	NP_004716	O43684	BUB3_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA.	215					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCCTGAGGTACAGAAGAAGAAGT	0.389													-	124921821	AGA	-	124921819	7	5	257	1	0	1	0	1	0	0	0	0	1572	188	7	0	662	0	BUB3	10	124921819	In_Frame_Del	DEL	AGA	TCGA-HU-8602-01A-11D-2394-08	563472	124921819	10612928	1025	127957											
FAM53B	9679	broad.mit.edu	37	chr10	126370548	126370548	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctggtcgcagggtgaGgagagcacgttggcccggga	18	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:126370548G>T	uc001lhv.1	-	4	1057	c.534C>A	c.(532-534)TCC>TCA	p.S178S	FAM53B_uc001lhu.1_Silent_p.S178S|FAM53B_uc001lhw.2_Silent_p.S178S	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	178										ovary(1)|pancreas(1)	2		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)		CGCAGGGTGAGGAGAGCACGT	0.657													T	126370548	G	T	126370548	2	4	257	1	0	0	0	0	0	0	0	1	5580	987	35	5		5	FAM53B	10	126370548	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1448729	126370548	9164199	1026	127958											
FAM53B	9679	broad.mit.edu	37	chr10	126370610	126370610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcatggtgctgaagcCgttggaatagcgctggacgc	14	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:126370610C>T	uc001lhv.1	-	4	995	c.472G>A	c.(472-474)GGC>AGC	p.G158S	FAM53B_uc001lhu.1_Missense_Mutation_p.G158S|FAM53B_uc001lhw.2_Missense_Mutation_p.G158S	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	158										ovary(1)|pancreas(1)	2		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)		GTGCTGAAGCCGTTGGAATAG	0.622													T	126370610	C	T	126370610	3	4	257	1	0	0	0	0	1	0	0	0	5580	652	23	1	804	1	FAM53B	10	126370610	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	62	126370610	9164137	1027	127959											
C10orf137	26098	broad.mit.edu	37	chr10	127412385	127412385	+	Frame_Shift_Del	DEL	A	A	-													tcttaattttttaagaacatAaaaaaactcctgaaaattcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:127412384_127412384TA>T	uc001liq.1	+	3	682	c.389_389TA>T	c.(388-390)atafs	p.I130fs	C10orf137_uc001lin.3_Frame_Shift_Del_p.I130fs|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Frame_Shift_Del_p.I130fs	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	130					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)				TTTAAGAACATAAAAAAACTC	0.318													-	127412385	A	-	127412385	7	5	257	1	0	1	0	1	0	0	0	0	1594	352	13	0	404	0	C10orf137	10	127412385	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1041775	127412385	8122362	1028	127960											
PWWP2B	170394	broad.mit.edu	37	chr10	134219688	134219688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcgtaagaagaaggggAtgtatcggaaagctataacc	11	5	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:134219688A>G	uc001lll.3	+	2	1713	c.1684A>G	c.(1684-1686)ATG>GTG	p.M562V	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	562											0		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)		GAAGAAGGGGATGTATCGGAA	0.463													G	134219688	A	G	134219688	3	3	257	1	0	0	0	0	1	0	0	0	12846	333	12	3	1690	3	PWWP2B	10	134219688	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	6807303	134219688	1315059	1029	127961											
KNDC1	85442	broad.mit.edu	37	chr10	135015094	135015094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactcggacgcactgtcaCggggaaacttcgaggtgggg	17	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:135015094C>T	uc001llz.1	+	17	3080	c.3079C>T	c.(3079-3081)CGG>TGG	p.R1027W	KNDC1_uc001lma.1_Missense_Mutation_p.R962W|KNDC1_uc001lmb.1_Missense_Mutation_p.R439W	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1027					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		CGCACTGTCACGGGGAAACTT	0.637													T	135015094	C	T	135015094	3	4	257	1	0	0	0	0	1	0	0	0	8426	527	19	1	3145	1	KNDC1	10	135015094	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	795406	135015094	519653	1030	127962											
MTG1	92170	broad.mit.edu	37	chr10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-													cacttagaaggagaaggcctAaaaaatgtcatttttaccaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408													-	135211971	A	-	135211971	7	5	257	1	0	1	0	1	0	0	0	0	9926	349	13	0	329	0	MTG1	10	135211971	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	196877	135211971	322776	1031	127963											
SCGB1C1	147199	broad.mit.edu	37	chr11	193728	193728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggatggccacaggggaGgacaacgatgagtttttcat	15	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:193728G>T	uc001loa.1	+	2	92	c.72G>T	c.(70-72)GAG>GAT	p.E24D		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1 precursor	24						extracellular region	binding			skin(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACAGGGGAGGACAACGATG	0.577													T	193728	G	T	193728	3	4	257	1	0	0	0	0	1	0	0	0	13895	991	35	5	78	5	SCGB1C1	11	193728	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08		193728	134812788	1032	127964											
CTSD	1509	broad.mit.edu	37	chr11	1780830	1780831	+	Frame_Shift_Ins	INS	-	-	G													aagacgactgtgaagcactgINSggggggcgtcccgatgccaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:1780829_1780830T>TG	uc001luc.2	-	2	401_402	c.268_269A>CA	c.(268-270)cagfs	p.Q90fs	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	90					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.Q90fs*50(2)		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)	TGTGAAGCACTGGGGGGGCGTC	0.649													G	1780831	-	G	1780830	7	5	257	1	0	1	1	0	0	0	0	0	4032	1357	47	0	998	0	CTSD	11	1780830	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1587102	1780830	133225686	1033	127965											
LSP1	4046	broad.mit.edu	37	chr11	1908789	1908789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagggggcccggctcCctaggcgtcccatctcggtg	16	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:1908789C>A	uc001lui.2	+	10	1191	c.1016C>A	c.(1015-1017)CCC>CAC	p.P339H	LSP1_uc001luj.2_Missense_Mutation_p.P467H|LSP1_uc001luk.2_Missense_Mutation_p.P277H|LSP1_uc001lul.2_Missense_Mutation_p.P277H|LSP1_uc001lum.2_Missense_Mutation_p.P277H	NM_002339	NP_002330	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 1	339					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		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;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGCCCGGCTCCCTAGGCGTCC	0.597													A	1908789	C	A	1908789	3	1	257	1	0	0	0	0	1	0	0	0	9063	623	22	5	1054	5	LSP1	11	1908789	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	127959	1908789	133097727	1034	127966											
PGAP2	27315	broad.mit.edu	37	chr11	3846332	3846332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctggctgtctactttcGgcacaacatgtattgtgagg	13	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:3846332G>A	uc001lys.2	+	6	917	c.791G>A	c.(790-792)CGG>CAG	p.R264Q	PGAP2_uc001lyl.2_Missense_Mutation_p.R221Q|PGAP2_uc010qxw.1_Missense_Mutation_p.R321Q|PGAP2_uc010qxx.1_Silent_p.S244S|PGAP2_uc001lyp.3_Silent_p.S130S|PGAP2_uc010qxy.1_Missense_Mutation_p.R256Q|PGAP2_uc010qxz.1_Missense_Mutation_p.R260Q|PGAP2_uc001lyn.3_Silent_p.S156S|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Silent_p.S227S|PGAP2_uc010qyb.1_Silent_p.S206S|PGAP2_uc001lyt.2_Missense_Mutation_p.R47Q	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	264	Helical; (Potential).				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						GTCTACTTTCGGCACAACATG	0.527											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3846332	G	A	3846332	3	1	257	1	0	0	0	0	1	0	0	0	11778	1116	39	1	988	1	PGAP2	11	3846332	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1937543	3846332	131160184	1035	127967											
UBQLN3	50613	broad.mit.edu	37	chr11	5529402	5529402	+	Frame_Shift_Del	DEL	A	A	-													aggaatggctgccgtgggggAaaaagataagggagcaaatg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:5529402delA	uc001may.1	-	2	1473	c.1387delT	c.(1387-1389)TCCfs	p.S463fs	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	463										ovary(3)	3		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)		GCCGTGGGGGAAAAAGATAAG	0.547													-	5529402	A	-	5529402	7	5	257	1	0	1	0	1	0	0	0	0	16895	246	9	0	584	0	UBQLN3	11	5529402	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1683070	5529402	129477114	1036	127968											
OR52N4	390072	broad.mit.edu	37	chr11	5776934	5776934	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaatcctacagcatgTgaatgaacacttgccaggag	8	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:5776934T>C	uc001mbu.2	+	1	1012	c.964T>C	c.(964-966)TGA>CGA	p.*322R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		CTACAGCATGTGAATGAACAC	0.398													C	5776934	T	C	5776934	4	2	257	1	0	0	0	0	0	0	0	0	11129	1709	59	3	966	3	OR52N4	11	5776934	Nonstop_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	247532	5776934	129229582	1037	127969											
RRP8	23378	broad.mit.edu	37	chr11	6622242	6622242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggatacttgaagccaagcGgcaatccccacagccgaagt	10	14	0	1	rs139950161		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6622242G>A	uc001med.2	-	4	1040	c.961C>T	c.(961-963)CGC>TGC	p.R321C	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	321					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						GAAGCCAAGCGGCAATCCCCA	0.547													A	6622242	G	A	6622242	3	1	257	1	0	0	0	0	1	0	0	0	13690	1116	39	1	425	1	RRP8	11	6622242	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	845308	6622242	128384274	1038	127970											
ILK	3611	broad.mit.edu	37	chr11	6629692	6629692	+	Frame_Shift_Del	DEL	T	T	-													gtgcccctgcactatgcctgTttttggggccaagatcaagt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6629692delT	uc001mee.2	+	4	459	c.324delT	c.(322-324)TGTfs	p.C108fs	ILK_uc001mef.2_Frame_Shift_Del_p.C108fs|ILK_uc010rap.1_5'UTR|ILK_uc010raq.1_Frame_Shift_Del_p.C108fs|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Frame_Shift_Del_p.C108fs|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	108	Interaction with LIMS1.|ANK 4.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		ACTATGCCTGTTTTTGGGGCC	0.502													-	6629692	T	-	6629692	7	5	257	1	0	1	0	1	0	0	0	0	7713	1731	60	0	334	0	ILK	11	6629692	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	7450	6629692	128376824	1039	127971											
DCHS1	8642	broad.mit.edu	37	chr11	6643309	6643309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgatgaggggtggtgggtCgatacggggagctgggggac	23	4	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6643309C>T	uc001mem.1	-	21	10008	c.9598G>A	c.(9598-9600)GAC>AAC	p.D3200N	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3200	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGTGGGTCGATACGGGGA	0.642													T	6643309	C	T	6643309	3	4	257	1	0	0	0	0	1	0	0	0	4287	884	31	1	302	1	DCHS1	11	6643309	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	13617	6643309	128363207	1040	127972											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs143767864	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		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)		CTGGGCCCTCCGGGGGGGTGA	0.587													-	6662142	G	-	6662142	7	5	257	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	18833	6662142	128344374	1041	127973											
DENND5A	23258	broad.mit.edu	37	chr11	9171679	9171679	+	Frame_Shift_Del	DEL	T	T	-													tcaggtgtctggaaagtaacTttttttccatggacagtcgc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:9171678_9171678CT>C	uc001mhl.3	-	14	2942	c.2685_2685AG>G	c.(2683-2685)aagfs	p.K895fs	DENND5A_uc001mhk.3_Frame_Shift_Del_p.K238fs|DENND5A_uc010rbw.2_Frame_Shift_Del_p.K895fs|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	895	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						TGGAAAGTAACTTTTTTTCCA	0.517													-	9171679	T	-	9171679	7	5	257	1	0	1	0	1	0	0	0	0	4436	1609	56	0	1215	0	DENND5A	11	9171679	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	2509537	9171679	125834837	1042	127974											
MRVI1	10335	broad.mit.edu	37	chr11	10626010	10626010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctcctctgtcaggttgCgttccctttcagcctggtta	9	12	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:10626010C>T	uc010rcc.1	-	13	2071	c.1685G>A	c.(1684-1686)CGC>CAC	p.R562H	MRVI1_uc001miw.2_Missense_Mutation_p.R553H|MRVI1_uc010rcb.1_Missense_Mutation_p.R554H|MRVI1_uc009ygb.1_Missense_Mutation_p.R247H|MRVI1_uc001mix.2_Missense_Mutation_p.R247H|MRVI1_uc001miz.2_Missense_Mutation_p.R471H|MRVI1_uc009ygc.1_Missense_Mutation_p.R471H|MRVI1_uc010rcd.1_Missense_Mutation_p.R356H|MRVI1_uc009ygd.1_Missense_Mutation_p.R247H|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	535	Potential.|Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGTCAGGTTGCGTTCCCTTTC	0.468													T	10626010	C	T	10626010	3	4	257	1	0	0	0	0	1	0	0	0	9853	768	27	1	1089	1	MRVI1	11	10626010	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1454331	10626010	124380506	1043	127975											
GALNTL4	374378	broad.mit.edu	37	chr11	11454305	11454305	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacgatgctcacctctggcAggctgtcaggaaatgagagg	13	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:11454305A>G	uc001mjo.2	-	3	879	c.458T>C	c.(457-459)CTG>CCG	p.L153P		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	153	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CACCTCTGGCAGGCTGTCAGG	0.562													G	11454305	A	G	11454305	3	3	257	1	0	0	0	0	1	0	0	0	6223	188	7	3	1401	3	GALNTL4	11	11454305	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	828295	11454305	123552211	1044	127976											
USP47	55031	broad.mit.edu	37	chr11	11954637	11954637	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacaagaaaagagacaaCgagaaattgagcgcaataca	9	6	0	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:11954637C>T	uc001mjq.1	+	16	2561	c.1798C>T	c.(1798-1800)CGA>TGA	p.R600*	USP47_uc001mjr.2_Nonsense_Mutation_p.R512*|USP47_uc001mjs.2_Nonsense_Mutation_p.R580*	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	600					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			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		AAAGAGACAACGAGAAATTGA	0.323													T	11954637	C	T	11954637	4	4	257	1	0	0	0	0	0	1	0	0	17075	528	19	1	1588	1	USP47	11	11954637	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	500332	11954637	123051879	1045	127977											
USP47	55031	broad.mit.edu	37	chr11	11974317	11974317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaagtccatgtcacagCttgcagttttgtcaagacgg	11	8	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:11974317C>T	uc001mjs.2	+	25	4376	c.3613C>T	c.(3613-3615)CTT>TTT	p.L1205F	USP47_uc001mjr.2_Missense_Mutation_p.L1137F|USP47_uc009ygi.2_Missense_Mutation_p.L7F	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1225					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			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		CATGTCACAGCTTGCAGTTTT	0.428													T	11974317	C	T	11974317	3	4	257	1	0	0	0	0	1	0	0	0	17075	797	28	2	3503	2	USP47	11	11974317	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	19680	11974317	123032199	1046	127978											
COPB1	1315	broad.mit.edu	37	chr11	14515947	14515947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcataatgattacttTcttcaaagcttcagtctttg	5	8	5	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:14515947T>C	uc001mli.2	-	3	437	c.130A>G	c.(130-132)AAA>GAA	p.K44E	COPB1_uc001mlg.2_Missense_Mutation_p.K44E|COPB1_uc001mlh.2_Missense_Mutation_p.K44E|PSMA1_uc010rcp.1_RNA	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	44					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			ovary(1)|central_nervous_system(1)	2						ATGATTACTTTCTTCAAAGCT	0.299													C	14515947	T	C	14515947	3	2	257	1	0	0	0	0	1	0	0	0	3728	1792	62	3	2811	3	COPB1	11	14515947	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2541630	14515947	120490569	1047	127979											
INSC	387755	broad.mit.edu	37	chr11	15262062	15262062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacgccgtgcttgtggCctgcctggtgagttctcagt	14	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:15262062C>T	uc001mly.2	+	12	1650	c.1604C>T	c.(1603-1605)GCC>GTC	p.A535V	INSC_uc001mlz.2_Missense_Mutation_p.A488V|INSC_uc001mma.2_Missense_Mutation_p.A488V|INSC_uc010rcs.1_Missense_Mutation_p.A523V|INSC_uc001mmb.2_Missense_Mutation_p.A488V|INSC_uc001mmc.2_Missense_Mutation_p.A446V	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	535					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						GTGCTTGTGGCCTGCCTGGTG	0.562													T	15262062	C	T	15262062	3	4	257	1	0	0	0	0	1	0	0	0	7764	739	26	2	1650	2	INSC	11	15262062	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	746115	15262062	119744454	1048	127980											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636709	18636709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctagagctgctgcctGgctgcctgacacctggactc	12	14	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:18636709G>A	uc001moy.2	-	3	1328	c.1112C>T	c.(1111-1113)CCA>CTA	p.P371L	SPTY2D1_uc010rdi.1_Missense_Mutation_p.P371L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	371	Ser-rich.									breast(1)	1						GCTGCTGCCTGGCTGCCTGAC	0.602													A	18636709	G	A	18636709	3	1	257	1	0	0	0	0	1	0	0	0	15125	1348	47	4	961	4	SPTY2D1	11	18636709	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3374647	18636709	116369807	1049	127981											
IGSF22	283284	broad.mit.edu	37	chr11	18729360	18729360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccatacctgccacgcGcacatggatgtcatagcgtg	9	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:18729360G>A	uc009yht.2	-	20	3461	c.3271C>T	c.(3271-3273)CGC>TGC	p.R1091C	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(4)|large_intestine(2)|kidney(1)	7						CCTGCCACGCGCACATGGATG	0.542													A	18729360	G	A	18729360	3	1	257	1	0	0	0	0	1	0	0	0	7600	1087	38	1	725	1	IGSF22	11	18729360	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	92651	18729360	116277156	1050	127982											
ANO5	203859	broad.mit.edu	37	chr11	22281077	22281077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccagatgtctcttgtcGtcaccagtatggtagctgta	9	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:22281077G>A	uc001mqi.2	+	15	1737	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	ANO5_uc001mqj.2_Missense_Mutation_p.V473I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	474	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						GTCTCTTGTCGTCACCAGTAT	0.378													A	22281077	G	A	22281077	3	1	257	1	0	0	0	0	1	0	0	0	700	1145	40	1	1478	1	ANO5	11	22281077	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3551717	22281077	112725439	1051	127983											
LGR4	55366	broad.mit.edu	37	chr11	27390168	27390168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaatcctaatgatggcGtttcacctgtaggaaatggc	11	8	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:27390168G>A	uc001mrj.3	-	18	2587	c.2102C>T	c.(2101-2103)ACG>ATG	p.T701M	LGR4_uc001mrk.3_Missense_Mutation_p.T677M	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	701	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						TAATGATGGCGTTTCACCTGT	0.403													A	27390168	G	A	27390168	3	1	257	1	0	0	0	0	1	0	0	0	8756	1145	40	1	757	1	LGR4	11	27390168	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5109091	27390168	107616348	1052	127984											
QSER1	79832	broad.mit.edu	37	chr11	32955335	32955335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcatgctttagggcatgGccatcaggcatctcttccta	8	11	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:32955335G>A	uc001mty.2	+	4	2411	c.2144G>A	c.(2143-2145)GGC>GAC	p.G715D	QSER1_uc001mtz.1_Missense_Mutation_p.G476D|QSER1_uc001mua.2_Missense_Mutation_p.G220D	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	715	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TTAGGGCATGGCCATCAGGCA	0.413													A	32955335	G	A	32955335	3	1	257	1	0	0	0	0	1	0	0	0	12882	1203	42	2	2150	2	QSER1	11	32955335	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5565167	32955335	102051181	1053	127985											
HIPK3	10114	broad.mit.edu	37	chr11	33308762	33308762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatgaatgctttcagcacCgtaaccatacttgtttagtc	6	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:33308762C>T	uc001mul.1	+	2	1072	c.802C>T	c.(802-804)CGT>TGT	p.R268C	HIPK3_uc001mum.1_Missense_Mutation_p.R268C|HIPK3_uc009yjv.1_Missense_Mutation_p.R268C	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	268	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						CTTTCAGCACCGTAACCATAC	0.388													T	33308762	C	T	33308762	3	4	257	1	0	0	0	0	1	0	0	0	7118	652	23	1	804	1	HIPK3	11	33308762	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	353427	33308762	101697754	1054	127986											
C11orf41	25758	broad.mit.edu	37	chr11	33667450	33667450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccggcaccaagaggcctaCggctcagcccagcacctgcc	11	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:33667450C>T	uc001mup.3	+	16	4879	c.4755C>T	c.(4753-4755)TAC>TAT	p.Y1585Y		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1579						integral to membrane				ovary(2)	2						AAGAGGCCTACGGCTCAGCCC	0.701													T	33667450	C	T	33667450	2	4	257	1	0	0	0	0	0	0	0	1	1640	547	19	1		1	C11orf41	11	33667450	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	358688	33667450	101339066	1055	127987											
C11orf41	25758	broad.mit.edu	37	chr11	33689437	33689437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcccctcccagggtacAtcgaggcctacccccgatca	10	17	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:33689437A>G	uc001mup.3	+	20	5429	c.5305A>G	c.(5305-5307)ATC>GTC	p.I1769V		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1763						integral to membrane				ovary(2)	2						CCCAGGGTACATCGAGGCCTA	0.642													G	33689437	A	G	33689437	3	3	257	1	0	0	0	0	1	0	0	0	1640	217	8	3	5383	3	C11orf41	11	33689437	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	21987	33689437	101317079	1056	127988											
ACCSL	390110	broad.mit.edu	37	chr11	44077743	44077743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctctaggattttggCatctctggcttccgctttgg	9	11	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:44077743C>T	uc001mxw.1	+	11	1250	c.1194C>T	c.(1192-1194)GGC>GGT	p.G398G	ACCSL_uc009ykr.2_Silent_p.G217G	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	398							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						AGGATTTTGGCATCTCTGGCT	0.507													T	44077743	C	T	44077743	2	4	257	1	0	0	0	0	0	0	0	1	134	697	25	2		2	ACCSL	11	44077743	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	10388306	44077743	90928773	1057	127989											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcagagcccacctccGccttcctgccgcccactgag	9	20	0	2	rs141639373		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:45924210G>A	uc001nbr.2	+	5	1062	c.892G>A	c.(892-894)GCC>ACC	p.A298T		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	298					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662													A	45924210	G	A	45924210	3	1	257	1	0	0	0	0	1	0	0	0	9284	1087	38	1	910	1	MAPK8IP1	11	45924210	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1846467	45924210	89082306	1058	127990											
PHF21A	51317	broad.mit.edu	37	chr11	45955682	45955682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtttggagaggtcgatgCcgtggatgaggcgaatcagc	17	7	1	2	rs140543084		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:45955682C>T	uc001ncc.3	-	18	2504	c.1880G>A	c.(1879-1881)GGC>GAC	p.G627D	PHF21A_uc001ncb.3_Missense_Mutation_p.G581D|PHF21A_uc009ykx.2_Missense_Mutation_p.G581D|PHF21A_uc001nca.1_3'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	627	Required for transcriptional repression.				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(1)|skin(1)	2						GAGGTCGATGCCGTGGATGAG	0.597													T	45955682	C	T	45955682	3	4	257	1	0	0	0	0	1	0	0	0	11833	739	26	2	166	2	PHF21A	11	45955682	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	31472	45955682	89050834	1059	127991											
C11orf49	79096	broad.mit.edu	37	chr11	47074001	47074001	+	Frame_Shift_Del	DEL	C	C	-													attcagcttcgtccaagccaCcccccacaatagggtatcat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:47074000_47074000AC>A	uc001ndr.3	+	2	317	c.211_211AC>A	c.(211-213)accfs	p.T71fs	C11orf49_uc001nds.3_Frame_Shift_Del_p.T71fs|C11orf49_uc001ndq.3_Frame_Shift_Del_p.T71fs|C11orf49_uc001ndp.3_Frame_Shift_Del_p.T71fs|C11orf49_uc010rgx.2_5'UTR|C11orf49_uc010rgy.2_Frame_Shift_Del_p.T62fs|C11orf49_uc010rgz.2_Intron	NM_001003677	NP_001003677	Q9H6J7	CK049_HUMAN	Homo sapiens chromosome 11 open reading frame 49 (C11orf49), transcript variant 2, mRNA.	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAA	0.438													-	47074001	C	-	47074001	7	5	257	1	0	1	0	1	0	0	0	0	1645	507	18	0	222	0	C11orf49	11	47074001	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	1118319	47074001	87932515	1060	127992											
NR1H3	10062	broad.mit.edu	37	chr11	47282887	47282888	+	Frame_Shift_Ins	INS	-	-	C													gccccccagggcttcctcacINSccccccaaatcctgccccag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:47282886_47282887A>AC	uc009ylm.3	+	4	844_845	c.594_595A>AC	c.(592-597)tcacccfs	p.S198fs	NR1H3_uc010rhk.2_Frame_Shift_Ins_p.S204fs|NR1H3_uc009yll.2_Frame_Shift_Ins_p.S204fs|NR1H3_uc001nek.3_Frame_Shift_Ins_p.S153fs|NR1H3_uc001nen.4_Frame_Shift_Ins_p.S198fs|NR1H3_uc001nem.3_Frame_Shift_Ins_p.S198fs	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	198					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						GGGCTTCCTCACCCCCCCAAAT	0.594													C	47282888	-	C	47282887	7	5	257	1	0	1	1	0	0	0	0	0	10618	507	18	0	609	0	NR1H3	11	47282887	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	208886	47282887	87723629	1061	127993											
NUP160	23279	broad.mit.edu	37	chr11	47828676	47828676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattccagtactgataagtGttggagattagactccctgt	9	7	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:47828676G>A	uc001ngm.2	-	19	2477	c.2392C>T	c.(2392-2394)CAC>TAC	p.H798Y	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	798					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			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						ACTGATAAGTGTTGGAGATTA	0.378													A	47828676	G	A	47828676	3	1	257	1	0	0	0	0	1	0	0	0	10757	1377	48	4	1990	4	NUP160	11	47828676	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	545789	47828676	87177840	1062	127994											
OR4A16	81327	broad.mit.edu	37	chr11	55111357	55111357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttccttaaaacttacagTcaggaagagaggcataaagc	8	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:55111357T>C	uc010rie.1	+	1	681	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						AAACTTACAGTCAGGAAGAGA	0.428													C	55111357	T	C	55111357	2	2	257	1	0	0	0	0	0	0	0	1	11041	1664	58	3		3	OR4A16	11	55111357	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	7282681	55111357	79895159	1063	127995											
OR8H1	219469	broad.mit.edu	37	chr11	56057709	56057709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggaatcacaatagtaTaaaaaacagaagccacttga	8	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:56057709T>C	uc010rje.1	-	1	830	c.830A>G	c.(829-831)TAT>TGT	p.Y277C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					CACAATAGTATAAAAAACAGA	0.353													C	56057709	T	C	56057709	3	2	257	1	0	0	0	0	1	0	0	0	11237	1406	49	3	107	3	OR8H1	11	56057709	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	946352	56057709	78948807	1064	127996											
OR5AR1	219493	broad.mit.edu	37	chr11	56431837	56431837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttatccttgttgcaatcAtcagaatgcgttcagctgaa	7	10	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:56431837A>G	uc010rjm.1	+	1	676	c.676A>G	c.(676-678)ATC>GTC	p.I226V		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	226	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTTGCAATCATCAGAATGCG	0.463													G	56431837	A	G	56431837	3	3	257	1	0	0	0	0	1	0	0	0	11145	217	8	3	678	3	OR5AR1	11	56431837	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	374128	56431837	78574679	1065	127997											
ZFP91	80829	broad.mit.edu	37	chr11	58377810	58377811	+	Splice_Site	INS	-	-	A													tctccaggtggcattaggtaINSaaaaaaacattaatatttca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:58377809_58377810T>TA	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	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)				TGGCATTAGGTAAAAAAAACAT	0.312													A	58377811	-	A	58377810	8	5	257	1	0	1	1	0	0	0	1	0	17652	377	13	0		0	ZFP91	11	58377810	Splice_Site	INS	-	TCGA-HU-8602-01A-11D-2394-08	1945973	58377810	76628706	1066	127998											
MS4A15	219995	broad.mit.edu	37	chr11	60531390	60531390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccacctgacttgcggCccgtggagacattcctgaca	10	15	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:60531390C>T	uc009ynf.1	+	2	404	c.184C>T	c.(184-186)CCC>TCC	p.P62S	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.P62S	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	62						integral to membrane	receptor activity			lung(1)	1						TGACTTGCGGCCCGTGGAGAC	0.582													T	60531390	C	T	60531390	3	4	257	1	0	0	0	0	1	0	0	0	9859	739	26	2	186	2	MS4A15	11	60531390	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2153580	60531390	74475126	1067	127999											
C11orf66	220004	broad.mit.edu	37	chr11	61254061	61254061	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccttcagccgagggaaTgaaaggattctgaaccccag	11	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:61254061T>C	uc001nru.1	+	9	938	c.813T>C	c.(811-813)AAT>AAC	p.N271N	C11orf66_uc009ynq.1_Silent_p.N251N	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	271										ovary(1)	1						GCCGAGGGAATGAAAGGATTC	0.572													C	61254061	T	C	61254061	2	2	257	1	0	0	0	0	0	0	0	1	1656	1461	51	3		3	C11orf66	11	61254061	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	722671	61254061	73752455	1068	128000											
AHNAK	79026	broad.mit.edu	37	chr11	62289451	62289451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcagagaaacgtccacGtcgcccttcatctttggacc	10	13	2	1	rs150249054	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:62289451G>A	uc001ntl.2	-	5	12738	c.12438C>T	c.(12436-12438)GAC>GAT	p.D4146D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4146					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAACGTCCACGTCGCCCTTCA	0.522													A	62289451	G	A	62289451	2	1	257	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62289451	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1035390	62289451	72717065	1069	128001											
GANAB	23193	broad.mit.edu	37	chr11	62407174	62407174	+	Frame_Shift_Del	DEL	A	A	-													taatccccaggcagacccctAaaaaagccagtaccaaagac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:62407173_62407173TA>T	uc001nua.3	-	1	102	c.69_69TA>A	c.(67-69)ttafs	p.L23fs	GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	23					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|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						GGCAGACCCCTAAAAAAGCCA	0.478													-	62407174	A	-	62407174	7	5	257	1	0	1	0	1	0	0	0	0	6233	372	13	0	2928	0	GANAB	11	62407174	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	117723	62407174	72599342	1070	128002											
SLC22A8	9376	broad.mit.edu	37	chr11	62760801	62760801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttggcttctttgcccGcagggacctagggacagaga	13	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:62760801G>A	uc001nwo.2	-	11	1673	c.1537C>T	c.(1537-1539)CGG>TGG	p.R513W	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.R390W|SLC22A8_uc010rmm.1_Missense_Mutation_p.R422W|SLC22A8_uc009yon.2_Missense_Mutation_p.R513W	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	513	Extracellular (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						TTCTTTGCCCGCAGGGACCTA	0.617													A	62760801	G	A	62760801	3	1	257	1	0	0	0	0	1	0	0	0	14460	1086	38	1	95	1	SLC22A8	11	62760801	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	353627	62760801	72245715	1071	128003											
PLCB3	5331	broad.mit.edu	37	chr11	64030156	64030156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccgacaggaaggtggGcatctacgtggaggtggaca	16	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64030156G>A	uc001nzb.2	+	19	2231	c.2231G>A	c.(2230-2232)GGC>GAC	p.G744D	PLCB3_uc009ypg.1_Missense_Mutation_p.G744D|PLCB3_uc009yph.1_Missense_Mutation_p.G677D|PLCB3_uc009ypi.2_Missense_Mutation_p.G744D	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	744	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						AGGAAGGTGGGCATCTACGTG	0.642													A	64030156	G	A	64030156	3	1	257	1	0	0	0	0	1	0	0	0	12029	1203	42	2	2305	2	PLCB3	11	64030156	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1269355	64030156	70976360	1072	128004											
NRXN2	9379	broad.mit.edu	37	chr11	64427988	64427988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgtacatggagccatcGtagctcaggaccgtggcctc	11	12	2	0	rs142462404		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64427988G>A	uc001oar.2	-	12	2644	c.2205C>T	c.(2203-2205)TAC>TAT	p.Y735Y	NRXN2_uc001oas.2_Silent_p.Y704Y|NRXN2_uc001oaq.2_Silent_p.Y402Y	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TGGAGCCATCGTAGCTCAGGA	0.577													A	64427988	G	A	64427988	2	1	257	1	0	0	0	0	0	0	0	1	10666	1140	40	1		1	NRXN2	11	64427988	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	397832	64427988	70578528	1073	128005											
TM7SF2	7108	broad.mit.edu	37	chr11	64883043	64883043	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatcttggagacctcatcAtggctctggcttggtccttg	10	11	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64883043A>G	uc001oct.2	+	9	1216	c.1069A>G	c.(1069-1071)ATG>GTG	p.M357V	TM7SF2_uc010rny.1_Missense_Mutation_p.M241V|TM7SF2_uc001ocu.2_Missense_Mutation_p.M330V|TM7SF2_uc001ocv.2_Missense_Mutation_p.M378V|uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	357	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1						AGACCTCATCATGGCTCTGGC	0.597													G	64883043	A	G	64883043	3	3	257	1	0	0	0	0	1	0	0	0	15971	217	8	3	1103	3	TM7SF2	11	64883043	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	455055	64883043	70123473	1074	128006											
MRPL49	740	broad.mit.edu	37	chr11	64893233	64893233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaagattttctgagcccGctgctggggaagacacctgt	14	9	1	3	rs112102999		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64893233G>A	uc001oda.1	+	4	481	c.390G>A	c.(388-390)CCG>CCA	p.P130P	MRPL49_uc001ocz.1_RNA	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	130					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						TTCTGAGCCCGCTGCTGGGGA	0.532													A	64893233	G	A	64893233	2	1	257	1	0	0	0	0	0	0	0	1	9813	1074	38	1		1	MRPL49	11	64893233	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	10190	64893233	70113283	1075	128007											
CAPN1	823	broad.mit.edu	37	chr11	64977350	64977350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggaagctgggcctggtgGagttcaacatcctgtggaac	15	8	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64977350G>A	uc009yqd.1	+	18	1936	c.1825G>A	c.(1825-1827)GAG>AAG	p.E609K	CAPN1_uc001odf.1_Missense_Mutation_p.E609K|CAPN1_uc001odg.1_Missense_Mutation_p.E609K|CAPN1_uc010roa.1_Missense_Mutation_p.E350K	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	609	1.|Domain IV.|EF-hand 2.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGGCCTGGTGGAGTTCAACAT	0.587													A	64977350	G	A	64977350	3	1	257	1	0	0	0	0	1	0	0	0	2622	1175	41	4	1891	4	CAPN1	11	64977350	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	84117	64977350	70029166	1076	128008											
SLC22A20	440044	broad.mit.edu	37	chr11	65000814	65000814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgggctcatggtgatcGccaacatgtttgtgccagaa	13	10	1	2	rs114214656	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65000814G>A	uc010roc.1	+	8	1240	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	413	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						CATGGTGATCGCCAACATGTT	0.597													A	65000814	G	A	65000814	3	1	257	1	0	0	0	0	1	0	0	0	14451	1102	38	1		1	SLC22A20	11	65000814	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	23464	65000814	70005702	1077	128009											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088674	65088674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcccggacggcccatcccCtctgctcaagaacgccatct	8	19	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65088674C>A	uc001odl.2	+	2	755	c.305C>A	c.(304-306)CCT>CAT	p.P102H		NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 2	102					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				0						GGCCCATCCCCTCTGCTCAAG	0.677													A	65088674	C	A	65088674	3	1	257	1	0	0	0	0	1	0	0	0	3076	681	24	5	307	5	CDC42EP2	11	65088674	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	87860	65088674	69917842	1078	128010											
TIGD3	220359	broad.mit.edu	37	chr11	65124297	65124297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcatcaccgtgctggacGccctgcacgtggcgtctgcc	13	16	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65124297G>A	uc001odo.3	+	2	1181	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	340	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CGTGCTGGACGCCCTGCACGT	0.652													A	65124297	G	A	65124297	3	1	257	1	0	0	0	0	1	0	0	0	15894	1087	38	1	1020	1	TIGD3	11	65124297	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	35623	65124297	69882219	1079	128011											
SLC25A45	283130	broad.mit.edu	37	chr11	65147336	65147336	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaaggagtgggccactcAcggactcatggcggtaaatc	12	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65147336A>G	uc001odp.1	-	3	575	c.153_splice	c.e3+1	p.S51_splice	SLC25A45_uc009yqi.1_Splice_Site_p.S51_splice|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001odr.1_Splice_Site_p.S51_splice|SLC25A45_uc001ods.1_Splice_Site_p.S9_splice|SLC25A45_uc001odt.1_Splice_Site_p.S9_splice	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b						transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						TGGGCCACTCACGGACTCATG	0.612													G	65147336	A	G	65147336	5	3	257	1	0	0	0	0	0	0	1	0	14510	173	6	3	727	3	SLC25A45	11	65147336	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	23039	65147336	69859180	1080	128012											
SCYL1	57410	broad.mit.edu	37	chr11	65305557	65305557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggagccacctcctgaCggtacacggctggccagcga	12	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65305557C>T	uc001oea.1	+	16	2228	c.2151C>T	c.(2149-2151)GAC>GAT	p.D717D	SCYL1_uc009yqk.2_Silent_p.D717D|SCYL1_uc001oeb.1_Silent_p.D700D|SCYL1_uc001oec.1_Missense_Mutation_p.T705M|SCYL1_uc001oed.1_Silent_p.D574D|SCYL1_uc001oee.1_Silent_p.D361D	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	717					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			skin(1)	1						CACCTCCTGACGGTACACGGC	0.642													T	65305557	C	T	65305557	2	4	257	1	0	0	0	0	0	0	0	1	13947	535	19	1		1	SCYL1	11	65305557	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	158221	65305557	69700959	1081	128013											
LTBP3	4054	broad.mit.edu	37	chr11	65314941	65314941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgggaggctttgagCcggtagccggggtagcagtt	20	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65314941C>T	uc001oej.2	-	14	2345	c.2076G>A	c.(2074-2076)CGG>CGA	p.R692R	LTBP3_uc001oef.2_5'Flank|LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Silent_p.R122R|LTBP3_uc010roi.1_Silent_p.R575R|LTBP3_uc001oei.2_Silent_p.R692R|LTBP3_uc010roj.1_Silent_p.R393R|LTBP3_uc010rok.1_Silent_p.R603R	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	692	EGF-like 5; calcium-binding (Potential).|Cys-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						AGGCTTTGAGCCGGTAGCCGG	0.627													T	65314941	C	T	65314941	2	4	257	1	0	0	0	0	0	0	0	1	9075	726	26	2		2	LTBP3	11	65314941	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	9384	65314941	69691575	1082	128014											
LTBP3	4054	broad.mit.edu	37	chr11	65321358	65321358	+	Frame_Shift_Del	DEL	G	G	-													tggacgcgcacattcaccacGgggggcggggcctgcactgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65321358delG	uc001oej.2	-	3	947	c.678delC	c.(676-678)CCCfs	p.P226fs	LTBP3_uc010roi.1_Frame_Shift_Del_p.P109fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.P226fs|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Frame_Shift_Del_p.P137fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	226						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CATTCACCACGGGGGGCGGGG	0.746													-	65321358	G	-	65321358	7	5	257	1	0	1	0	1	0	0	0	0	9075	1103	39	0	3337	0	LTBP3	11	65321358	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	6417	65321358	69685158	1083	128015											
EHBP1L1	254102	broad.mit.edu	37	chr11	65347566	65347566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggagtctaaggggcaGcggaaggtgctggccacggc	17	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65347566G>A	uc001oeo.3	+	5	592	c.327G>A	c.(325-327)CAG>CAA	p.Q109Q	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	109										central_nervous_system(1)	1						CTAAGGGGCAGCGGAAGGTGC	0.652													A	65347566	G	A	65347566	2	1	257	1	0	0	0	0	0	0	0	1	4976	962	34	2		2	EHBP1L1	11	65347566	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	26208	65347566	69658950	1084	128016											
PCNXL3	399909	broad.mit.edu	37	chr11	65385650	65385650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagtcgacgggaacaaCgcaggggggcaggtggctat	17	10	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65385650C>T	uc001oey.2	+	6	817	c.817C>T	c.(817-819)CGC>TGC	p.R273C		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	273						integral to membrane					0						ACGGGAACAACGCAGGGGGGC	0.677													T	65385650	C	T	65385650	3	4	257	1	0	0	0	0	1	0	0	0	11593	536	19	1	839	1	PCNXL3	11	65385650	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	38084	65385650	69620866	1085	128017											
EFEMP2	30008	broad.mit.edu	37	chr11	65638718	65638718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcgggggtccctcgcCgtgtaggtcgttgatgacgg	19	9	0	2	rs2234462	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65638718C>T	uc001ofy.3	-	4	471	c.277G>A	c.(277-279)GGC>AGC	p.G93S	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.G93S	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	93					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GGTCCCTCGCCGTGTAGGTCG	0.652													T	65638718	C	T	65638718	3	4	257	1	0	0	0	0	1	0	0	0	4942	652	23	1	1086	1	EFEMP2	11	65638718	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	253068	65638718	69367798	1086	128018											
CTSW	1521	broad.mit.edu	37	chr11	65650137	65650137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcttcgtctgggacgCgttcataactgtcctcaaca	11	12	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65650137C>T	uc001ogc.1	+	6	638	c.596C>T	c.(595-597)GCG>GTG	p.A199V	CTSW_uc001ogb.1_Missense_Mutation_p.A199V	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	199					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		GTCTGGGACGCGTTCATAACT	0.627													T	65650137	C	T	65650137	3	4	257	1	0	0	0	0	1	0	0	0	4042	768	27	1	618	1	CTSW	11	65650137	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	11419	65650137	69356379	1087	128019											
CTSW	1521	broad.mit.edu	37	chr11	65650895	65650895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcccaatggggagagaaGgtgagtgtgatctattgggg	20	4	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65650895G>T	uc001ogc.1	+	9	1062	c.1020G>T	c.(1018-1020)AAG>AAT	p.K340N	CTSW_uc001ogb.1_Missense_Mutation_p.K340N	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	340					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		GGGGAGAGAAGGTGAGTGTGA	0.597													T	65650895	G	T	65650895	3	4	257	1	0	0	0	0	1	0	0	0	4042	1014	35	5	1054	5	CTSW	11	65650895	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	758	65650895	69355621	1088	128020											
SF3B2	10992	broad.mit.edu	37	chr11	65836146	65836146	+	Splice_Site	DEL	A	A	-													tctctttctccctatacagcAaaaaaaacggaaagctcagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	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						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65836146	A	-	65836146	8	5	257	1	0	1	0	1	0	0	1	0	14151	144	5	0	2704	0	SF3B2	11	65836146	Splice_Site	DEL	A	TCGA-HU-8602-01A-11D-2394-08	185251	65836146	69170370	1089	128021											
NPAS4	266743	broad.mit.edu	37	chr11	66190273	66190273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctactgggcaggaaatcccGtgttcacagctttctgtgcc	10	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:66190273G>A	uc001ohx.1	+	4	735	c.559G>A	c.(559-561)GTG>ATG	p.V187M	NPAS4_uc010rpc.1_Silent_p.P13P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	187					transcription, DNA-dependent		DNA binding|signal transducer activity				0						AGGAAATCCCGTGTTCACAGC	0.637													A	66190273	G	A	66190273	3	1	257	1	0	0	0	0	1	0	0	0	10565	1145	40	1	573	1	NPAS4	11	66190273	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	354127	66190273	68816243	1090	128022											
NPAS4	266743	broad.mit.edu	37	chr11	66190305	66190305	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgtgcccctctggagccGagaccccgcccaggtcctgg	12	17	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:66190305G>A	uc001ohx.1	+	4	767	c.591G>A	c.(589-591)CCG>CCA	p.P197P	NPAS4_uc010rpc.1_Missense_Mutation_p.R24Q	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	197					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CTCTGGAGCCGAGACCCCGCC	0.612													A	66190305	G	A	66190305	2	1	257	1	0	0	0	0	0	0	0	1	10565	1045	37	1		1	NPAS4	11	66190305	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	32	66190305	68816211	1091	128023											
RHOD	29984	broad.mit.edu	37	chr11	66834229	66834229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagatgactatgaccgcCtgcggcccctgttctaccct	10	15	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:66834229C>A	uc001ojv.2	+	3	326	c.241C>A	c.(241-243)CTG>ATG	p.L81M		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	81					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						CTATGACCGCCTGCGGCCCCT	0.597													A	66834229	C	A	66834229	3	1	257	1	0	0	0	0	1	0	0	0	13337	680	24	5	251	5	RHOD	11	66834229	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	643924	66834229	68172287	1092	128024											
CORO1B	57175	broad.mit.edu	37	chr11	67208687	67208687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatggcccgcatgggcCgggccccctcatgagccttc	14	15	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:67208687C>T	uc001olj.1	-	5	701	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.R222Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.R222Q|CORO1B_uc010rps.1_Missense_Mutation_p.R222Q	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	222	WD 4.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCGCATGGGCCGGGCCCCCTC	0.667													T	67208687	C	T	67208687	3	4	257	1	0	0	0	0	1	0	0	0	3754	652	23	1	828	1	CORO1B	11	67208687	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	374458	67208687	67797829	1093	128025											
PITPNM1	9600	broad.mit.edu	37	chr11	67265420	67265420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgctgccccgactccCggtgcccgcgttagcactgt	13	17	0	0	rs143299011		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:67265420C>T	uc001olx.2	-	11	1939	c.1750G>A	c.(1750-1752)GGG>AGG	p.G584R	PITPNM1_uc001olw.2_5'UTR|PITPNM1_uc001oly.2_Missense_Mutation_p.G584R|PITPNM1_uc001olz.2_Missense_Mutation_p.G584R	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	584					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			lung(2)|central_nervous_system(1)	3						CCCCGACTCCCGGTGCCCGCG	0.642													T	67265420	C	T	67265420	3	4	257	1	0	0	0	0	1	0	0	0	11950	652	23	1	2036	1	PITPNM1	11	67265420	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	56733	67265420	67741096	1094	128026											
DHCR7	1717	broad.mit.edu	37	chr11	71146464	71146464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaggcactgcggcggtgTagcgctcccagtcccggccg	16	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:71146464T>C	uc001oqk.2	-	9	1635	c.1385A>G	c.(1384-1386)TAC>TGC	p.Y462C	DHCR7_uc001oql.2_Missense_Mutation_p.Y462C	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	462					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	TGCGGCGGTGTAGCGCTCCCA	0.642									Smith-Lemli-Opitz_syndrome				C	71146464	T	C	71146464	3	2	257	1	0	0	0	0	1	0	0	0	4477	1638	57	3	46	3	DHCR7	11	71146464	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	3881044	71146464	63860052	1095	128027											
FCHSD2	9873	broad.mit.edu	37	chr11	72695167	72695167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaatctgtttgatagtagCgatcctgatgtgcatttgct	9	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:72695167C>T	uc009ytl.2	-	8	892	c.671G>A	c.(670-672)CGC>CAC	p.R224H	FCHSD2_uc010rrg.1_Missense_Mutation_p.R64H|FCHSD2_uc001oth.3_Missense_Mutation_p.R168H|FCHSD2_uc001oti.2_Missense_Mutation_p.R183H	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	224							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TTGATAGTAGCGATCCTGATG	0.368													T	72695167	C	T	72695167	3	4	257	1	0	0	0	0	1	0	0	0	5790	768	27	1	1603	1	FCHSD2	11	72695167	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1548703	72695167	62311349	1096	128028											
MOGAT2	80168	broad.mit.edu	37	chr11	75439929	75439929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttacgctatatccagaatCggttgcagaagatcatgggc	12	8	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:75439929C>T	uc010rru.1	+	5	745	c.745C>T	c.(745-747)CGG>TGG	p.R249W	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Missense_Mutation_p.R167W	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	249					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					TATCCAGAATCGGTTGCAGAA	0.537													T	75439929	C	T	75439929	3	4	257	1	0	0	0	0	1	0	0	0	9695	875	31	1	763	1	MOGAT2	11	75439929	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2744762	75439929	59566587	1097	128029											
ODZ4	26011	broad.mit.edu	37	chr11	78516393	78516393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaaagcccggtgtccGggaggaaggttccgtggcct	16	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:78516393G>A	uc001ozl.3	-	15	2586	c.2123C>T	c.(2122-2124)CCG>CTG	p.P708L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	708	Extracellular (Potential).|EGF-like 5.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CCCGGTGTCCGGGAGGAAGGT	0.592													A	78516393	G	A	78516393	3	1	257	1	0	0	0	0	1	0	0	0	10837	1116	39	1	6266	1	ODZ4	11	78516393	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3076464	78516393	56490123	1098	128030											
HEPHL1	341208	broad.mit.edu	37	chr11	93808353	93808353	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaggatttgtgaaaccAggggcgcatgttaaaccagg	12	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:93808353A>C	uc001pep.2	+	9	1675	c.1518A>C	c.(1516-1518)CCA>CCC	p.P506P	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	506	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTGTGAAACCAGGGGCGCATG	0.473													C	93808353	A	C	93808353	2	2	257	1	0	0	0	0	0	0	0	1	7055	175	7	5		5	HEPHL1	11	93808353	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	15291960	93808353	41198163	1099	128031											
PIWIL4	143689	broad.mit.edu	37	chr11	94330984	94330984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaggaataccaatgctcGctttgaactagagacctggg	10	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:94330984G>A	uc001pfa.2	+	11	1494	c.1283G>A	c.(1282-1284)CGC>CAC	p.R428H	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	428					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACCAATGCTCGCTTTGAACTA	0.378													A	94330984	G	A	94330984	3	1	257	1	0	0	0	0	1	0	0	0	11960	1087	38	1	1325	1	PIWIL4	11	94330984	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	522631	94330984	40675532	1100	128032											
CNTN5	53942	broad.mit.edu	37	chr11	100061980	100061980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattatagcttcgctatctgTaaaaggtaagacagcacggg	10	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:100061980T>C	uc001pga.2	+	14	2042	c.1703T>C	c.(1702-1704)GTA>GCA	p.V568A	CNTN5_uc009ywv.1_Missense_Mutation_p.V568A|CNTN5_uc001pfz.2_Missense_Mutation_p.V568A|CNTN5_uc001pgb.2_Missense_Mutation_p.V494A|CNTN5_uc010ruk.1_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	568					cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		TCGCTATCTGTAAAAGGTAAG	0.378													C	100061980	T	C	100061980	3	2	257	1	0	0	0	0	1	0	0	0	3644	1638	57	3	1749	3	CNTN5	11	100061980	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	5730996	100061980	34944536	1101	128033											
MMP3	4314	broad.mit.edu	37	chr11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcttcctgagggatttgcGccaaaagtgcctaaaatata	9	8	0	1	rs147533686	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:102709964G>A	uc001phj.1	-	7	1011	c.946C>T	c.(946-948)CGC>TGC	p.R316C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R316C(1)		lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGATTTGCGCCAAAAGTGC	0.403													A	102709964	G	A	102709964	3	1	257	1	0	0	0	0	1	0	0	0	9666	1087	38	1	503	1	MMP3	11	102709964	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2647984	102709964	32296552	1102	128034											
EXPH5	23086	broad.mit.edu	37	chr11	108412488	108412488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttcttcaaaccattcAccagtcactccctgaagcca	4	14	4	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:108412488A>G	uc001pkk.2	-	2	282	c.171T>C	c.(169-171)GGT>GGC	p.G57G	EXPH5_uc010rwa.1_5'UTR	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	57					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		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)		CAAACCATTCACCAGTCACTC	0.328													G	108412488	A	G	108412488	2	3	257	1	0	0	0	0	0	0	0	1	5322	146	6	3		3	EXPH5	11	108412488	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5702524	108412488	26594028	1103	128035											
SIK2	23235	broad.mit.edu	37	chr11	111594537	111594537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgcagctacagcagcagcAgccgccaccgccaccacccc	8	22	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:111594537A>C	uc001plt.2	+	15	2583	c.2465A>C	c.(2464-2466)CAG>CCG	p.Q822P		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	822					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CAGCAGCAGCAGccgccaccg	0.507													C	111594537	A	C	111594537	3	2	257	1	0	0	0	0	1	0	0	0	14318	188	7	5	2523	5	SIK2	11	111594537	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	3182049	111594537	23411979	1104	128036											
ZW10	9183	broad.mit.edu	37	chr11	113610032	113610032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgatgcccgagggtcagCaagtggtgagcaatgtacat	13	8	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:113610032C>T	uc001poe.2	-	12	1693	c.1656G>A	c.(1654-1656)TTG>TTA	p.L552L	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	552					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)|skin(1)	2		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)		CGAGGGTCAGCAAGTGGTGAG	0.483													T	113610032	C	T	113610032	2	4	257	1	0	0	0	0	0	0	0	1	18244	709	25	2		2	ZW10	11	113610032	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2015495	113610032	21396484	1105	128037											
HTR3A	3359	broad.mit.edu	37	chr11	113857354	113857354	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccaacagtggcgagaggGtctctttcaagattacactc	9	13	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:113857354G>T	uc010rxb.1	+	7	1071	c.838G>T	c.(838-840)GTC>TTC	p.V280F	HTR3A_uc010rxa.1_Missense_Mutation_p.V280F|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V259F	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	274	Helical; Name=2; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		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)	TGGCGAGAGGGTCTCTTTCAA	0.572													T	113857354	G	T	113857354	3	4	257	1	0	0	0	0	1	0	0	0	7444	1261	44	5	890	5	HTR3A	11	113857354	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	247322	113857354	21149162	1106	128038											
ZBTB16	7704	broad.mit.edu	37	chr11	114027109	114027109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgagctctgcgggaagcGgttcctggatagtttgcggc	17	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:114027109G>A	uc001pop.2	+	3	1583	c.1319G>A	c.(1318-1320)CGG>CAG	p.R440Q	ZBTB16_uc001poo.1_Missense_Mutation_p.R440Q|ZBTB16_uc001poq.2_Missense_Mutation_p.R440Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	440	C2H2-type 2.				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)|skin(1)	2		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)		TGCGGGAAGCGGTTCCTGGAT	0.547													A	114027109	G	A	114027109	3	1	257	1	0	0	0	0	1	0	0	0	17523	1116	39	1	1325	1	ZBTB16	11	114027109	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	169755	114027109	20979407	1107	128039											
CADM1	23705	broad.mit.edu	37	chr11	115080374	115080374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagggatagttgtggggGgatctggatagaaaaaaaaa	17	1	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:115080374G>T	uc001ppi.3	-	8	1127	c.998C>A	c.(997-999)CCC>CAC	p.P333H	CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Missense_Mutation_p.P85H	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	333	Extracellular (Potential).			PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	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			ovary(2)	2	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)		AGTTGTGGGGGGATCTGGATA	0.284													T	115080374	G	T	115080374	3	4	257	1	0	0	0	0	1	0	0	0	2566	1232	43	5	342	5	CADM1	11	115080374	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1053265	115080374	19926142	1108	128040											
SIDT2	51092	broad.mit.edu	37	chr11	117063319	117063319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgccgcatcctccacGtgctctacacagactgcatc	6	18	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117063319G>A	uc001pqh.1	+	21	2052	c.2011G>A	c.(2011-2013)GTG>ATG	p.V671M	SIDT2_uc010rxe.1_Missense_Mutation_p.V671M|SIDT2_uc001pqg.2_Missense_Mutation_p.V692M|SIDT2_uc001pqi.1_Missense_Mutation_p.V668M|SIDT2_uc001pqj.1_Translation_Start_Site	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	671	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	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)		CATCCTCCACGTGCTCTACAC	0.622													A	117063319	G	A	117063319	3	1	257	1	0	0	0	0	1	0	0	0	14303	1145	40	1	2093	1	SIDT2	11	117063319	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1982945	117063319	17943197	1109	128041											
DSCAML1	57453	broad.mit.edu	37	chr11	117342716	117342716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggttgatggtgggggAgatgttgcgtgtggactgct	20	5	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117342716A>G	uc001prh.1	-	15	3003	c.3001T>C	c.(3001-3003)TCC>CCC	p.S1001P		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	941	Extracellular (Potential).|Fibronectin type-III 1.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		ATGGTGGGGGAGATGTTGCGT	0.537													G	117342716	A	G	117342716	3	3	257	1	0	0	0	0	1	0	0	0	4769	304	11	3	3416	3	DSCAML1	11	117342716	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	279397	117342716	17663800	1110	128042											
DSCAML1	57453	broad.mit.edu	37	chr11	117389198	117389198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcttacgtttattcgcGcctgatattcagcactgccc	6	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117389198G>A	uc001prh.1	-	7	1675	c.1673C>T	c.(1672-1674)GCG>GTG	p.A558V	DSCAML1_uc001pri.1_Missense_Mutation_p.A362V	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	498	Extracellular (Potential).|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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GTTTATTCGCGCCTGATATTC	0.502													A	117389198	G	A	117389198	3	1	257	1	0	0	0	0	1	0	0	0	4769	1087	38	1	4776	1	DSCAML1	11	117389198	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	46482	117389198	17617318	1111	128043											
DSCAML1	57453	broad.mit.edu	37	chr11	117651377	117651377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcacgtcgtagatgtcGtcccctgtggccaggtacca	13	13	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117651377G>A	uc001prh.1	-	2	377	c.375C>T	c.(373-375)GAC>GAT	p.D125D	DSCAML1_uc001pri.1_Translation_Start_Site	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	65	Extracellular (Potential).|Ig-like C2-type 1.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		CGTAGATGTCGTCCCCTGTGG	0.667													A	117651377	G	A	117651377	2	1	257	1	0	0	0	0	0	0	0	1	4769	1136	40	1		1	DSCAML1	11	117651377	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	262179	117651377	17355139	1112	128044											
MLL	4297	broad.mit.edu	37	chr11	118371787	118371787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtgccgtcctccagtcGtagagccggatatcaacagc	12	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118371787G>A	uc001pta.2	+	25	6258	c.6235G>A	c.(6235-6237)GTA>ATA	p.V2079I	MLL_uc001ptb.2_Missense_Mutation_p.V2082I	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2079					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCCTCCAGTCGTAGAGCCGGA	0.468			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								A	118371787	G	A	118371787	3	1	257	1	0	0	0	0	1	0	0	0	9620	1145	40	1	6333	1	MLL	11	118371787	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	720410	118371787	16634729	1113	128045											
PHLDB1	23187	broad.mit.edu	37	chr11	118498952	118498952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggcgagctctctccccGctgcccacccggaccacccc	8	24	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118498952G>A	uc001ptr.1	+	7	1766	c.1413G>A	c.(1411-1413)CCG>CCA	p.P471P	PHLDB1_uc001pts.2_Silent_p.P471P|PHLDB1_uc001ptt.2_Silent_p.P471P|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.P271P|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	471											0	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)		CTCTCTCCCCGCTGCCCACCC	0.672													A	118498952	G	A	118498952	2	1	257	1	0	0	0	0	0	0	0	1	11851	1074	38	1		1	PHLDB1	11	118498952	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	127165	118498952	16507564	1114	128046											
PHLDB1	23187	broad.mit.edu	37	chr11	118509928	118509928	+	Frame_Shift_Del	DEL	G	G	-													ggagataccactcactcacaGggggcaggcctttcccgaag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118509927_118509927AG>A	uc001ptr.2	+	12	3047	c.2694_2694AG>A	c.(2692-2694)acafs	p.T898fs	PHLDB1_uc001pts.3_Frame_Shift_Del_p.T898fs|PHLDB1_uc001ptt.3_Frame_Shift_Del_p.T898fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Frame_Shift_Del_p.T698fs|PHLDB1_uc001ptw.2_Frame_Shift_Del_p.T300fs|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	898										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)		ACTCACTCACAGGGGGCAGGC	0.567													-	118509928	G	-	118509928	7	5	257	1	0	1	0	1	0	0	0	0	11851	1000	35	0	2737	0	PHLDB1	11	118509928	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	10976	118509928	16496588	1115	128047											
BCL9L	283149	broad.mit.edu	37	chr11	118770197	118770197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcaggtgcatctggcTgggctggctgttgctgatcc	15	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118770197T>C	uc001pug.2	-	8	4392	c.3427A>G	c.(3427-3429)AGC>GGC	p.S1143G	BCL9L_uc009zal.2_Missense_Mutation_p.S1138G	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1143	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			ovary(1)|pancreas(1)	2	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)		TGCATCTGGCTGGGCTGGCTG	0.672													C	118770197	T	C	118770197	3	2	257	1	0	0	0	0	1	0	0	0	1382	1580	55	3	1076	3	BCL9L	11	118770197	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	260269	118770197	16236319	1116	128048											
HYOU1	10525	broad.mit.edu	37	chr11	118919830	118919830	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggctgagagccatccTccactggggcctcagcttcc	14	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118919830T>G	uc001puu.2	-	17	2085	c.1892A>C	c.(1891-1893)GAG>GCG	p.E631A	HYOU1_uc001put.2_Missense_Mutation_p.E596A|HYOU1_uc010ryu.1_Intron|HYOU1_uc010ryv.1_Missense_Mutation_p.E520A|HYOU1_uc001pux.3_Missense_Mutation_p.E631A|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.E631A	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	631						endoplasmic reticulum lumen	ATP binding|protein binding				0	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)		AGAGCCATCCTCCACTGGGGC	0.602													G	118919830	T	G	118919830	3	3	257	1	0	0	0	0	1	0	0	0	7470	1551	54	5	1147	5	HYOU1	11	118919830	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	149633	118919830	16086686	1117	128049											
C2CD2L	9854	broad.mit.edu	37	chr11	118982019	118982019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccaggctcagccagccaTccccagacctaaccggttat	8	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118982019T>C	uc001pvo.2	+	6	1204	c.845T>C	c.(844-846)ATC>ACC	p.I282T	DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvn.2_Missense_Mutation_p.I282T	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	282						integral to membrane					0						CAGCCAGCCATCCCCAGACCT	0.562													C	118982019	T	C	118982019	3	2	257	1	0	0	0	0	1	0	0	0	2153	1435	50	3	867	3	C2CD2L	11	118982019	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	62189	118982019	16024497	1118	128050											
PVRL1	5818	broad.mit.edu	37	chr11	119549183	119549183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggaaggtagcaaactcGcagatgtagacaccctcatc	11	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:119549183G>A	uc001pwv.2	-	2	544	c.372C>T	c.(370-372)TGC>TGT	p.C124C	PVRL1_uc001pwu.1_Silent_p.C124C|PVRL1_uc001pww.2_Silent_p.C124C	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	124	Extracellular (Potential).|Ig-like V-type.				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				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TAGCAAACTCGCAGATGTAGA	0.612													A	119549183	G	A	119549183	2	1	257	1	0	0	0	0	0	0	0	1	12839	1079	38	1		1	PVRL1	11	119549183	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	567164	119549183	15457333	1119	128051											
SORL1	6653	broad.mit.edu	37	chr11	121414327	121414327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccagtgtttgtgtatggcCtcctcacagaacctggggag	13	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:121414327C>A	uc001pxx.2	+	13	1836	c.1756C>A	c.(1756-1758)CTC>ATC	p.L586I		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	586	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		TGTGTATGGCCTCCTCACAGA	0.493													A	121414327	C	A	121414327	3	1	257	1	0	0	0	0	1	0	0	0	14934	681	24	5	1806	5	SORL1	11	121414327	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1865144	121414327	13592189	1120	128052											
SORL1	6653	broad.mit.edu	37	chr11	121448077	121448077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgacggggacaacgactGcagggactggtctgatgaag	16	7	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:121448077G>A	uc001pxx.2	+	25	3628	c.3548G>A	c.(3547-3549)TGC>TAC	p.C1183Y	SORL1_uc010rzp.1_Missense_Mutation_p.C29Y	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1183	Extracellular (Potential).|LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		GACAACGACTGCAGGGACTGG	0.527													A	121448077	G	A	121448077	3	1	257	1	0	0	0	0	1	0	0	0	14934	1319	46	2	3646	2	SORL1	11	121448077	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	33750	121448077	13558439	1121	128053											
BSX	390259	broad.mit.edu	37	chr11	122848370	122848370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcggctcagagcacgtgcGgccctgagcccagctccccc	13	18	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:122848370G>T	uc010rzs.1	-	3	689	c.689C>A	c.(688-690)CCG>CAG	p.P230Q		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	230											0		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)		GAGCACGTGCGGCCCTGAGCC	0.706													T	122848370	G	T	122848370	3	4	257	1	0	0	0	0	1	0	0	0	1535	1116	39	5	15	5	BSX	11	122848370	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1400293	122848370	12158146	1122	128054											
GRAMD1B	57476	broad.mit.edu	37	chr11	123481017	123481017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaatcgctacacgctcacCcgtgtggctcggaacaagag	10	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:123481017C>A	uc001pyx.2	+	13	1790	c.1461C>A	c.(1459-1461)ACC>ACA	p.T487T	GRAMD1B_uc001pyw.2_Silent_p.T494T|GRAMD1B_uc010rzw.1_Silent_p.T447T|GRAMD1B_uc010rzx.1_Silent_p.T447T|GRAMD1B_uc001pyy.2_Silent_p.T178T	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	487						integral to membrane				ovary(1)	1		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)		ACACGCTCACCCGTGTGGCTC	0.542													A	123481017	C	A	123481017	2	1	257	1	0	0	0	0	0	0	0	1	6748	610	22	5		5	GRAMD1B	11	123481017	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	632647	123481017	11525499	1123	128055											
FAM118B	79607	broad.mit.edu	37	chr11	126124235	126124235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagaagcgtaagctgagCgtgttgcatattcacggagt	14	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:126124235C>T	uc001qdf.2	+	6	786	c.603C>T	c.(601-603)AGC>AGT	p.S201S	FAM118B_uc009zca.2_Silent_p.S205S|FAM118B_uc001qdg.2_Silent_p.S201S	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	201											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GTAAGCTGAGCGTGTTGCATA	0.522													T	126124235	C	T	126124235	2	4	257	1	0	0	0	0	0	0	0	1	5412	767	27	1		1	FAM118B	11	126124235	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2643218	126124235	8882281	1124	128056											
TMEM45B	120224	broad.mit.edu	37	chr11	129725622	129725622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcctcttctactaccaCgtccacaaccggcctccgct	6	18	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:129725622C>T	uc001qfe.1	+	4	466	c.405C>T	c.(403-405)CAC>CAT	p.H135H	TMEM45B_uc001qff.1_Silent_p.H135H	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	135	Helical; (Potential).					integral to membrane					0	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;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TCTACTACCACGTCCACAACC	0.557													T	129725622	C	T	129725622	2	4	257	1	0	0	0	0	0	0	0	1	16167	535	19	1		1	TMEM45B	11	129725622	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3601387	129725622	5280894	1125	128057											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278728	130278728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaacttgcagcggtcccGgggggacaccccagcatact	12	14	0	0	rs34821407		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:130278728G>A	uc001qgg.3	-	7	2216	c.1858C>T	c.(1858-1860)CGG>TGG	p.R620W	ADAMTS8_uc001qgf.2_Missense_Mutation_p.R101W	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	620	Cys-rich.				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)	1	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)		CAGCGGTCCCGGGGGGACACC	0.572													A	130278728	G	A	130278728	3	1	257	1	0	0	0	0	1	0	0	0	272	1115	39	1	823	1	ADAMTS8	11	130278728	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	553106	130278728	4727788	1126	128058											
OPCML	4978	broad.mit.edu	37	chr11	132307169	132307169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgacatcgttcaacGcgctgcattcgtactccccg	10	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:132307169G>A	uc001qgs.2	-	4	661	c.611C>T	c.(610-612)GCG>GTG	p.A204V	OPCML_uc001qgu.2_Missense_Mutation_p.A197V|OPCML_uc010sck.1_Missense_Mutation_p.A204V|OPCML_uc001qgt.2_Missense_Mutation_p.A203V|OPCML_uc010scl.1_Missense_Mutation_p.A163V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	204	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.A204A(1)		ovary(2)|skin(1)	3	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)		ATCGTTCAACGCGCTGCATTC	0.547													A	132307169	G	A	132307169	3	1	257	1	0	0	0	0	1	0	0	0	10874	1087	38	1	442	1	OPCML	11	132307169	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2028441	132307169	2699347	1127	128059											
SLC6A13	6540	broad.mit.edu	37	chr12	332299	332299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggggaggagtcactcaccGtaaacccaagccacacagag	11	12	2	1	rs146619869		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:332299G>A	uc001qic.1	-	12	1466	c.1413C>T	c.(1411-1413)TAC>TAT	p.Y471Y	SLC6A13_uc009zdj.1_Silent_p.Y461Y|SLC6A13_uc010sdl.1_Silent_p.Y379Y	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	471	Helical; Name=10; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	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)			GTCACTCACCGTAAACCCAAG	0.537													A	332299	G	A	332299	2	1	257	1	0	0	0	0	0	0	0	1	14676	1159	40	1		1	SLC6A13	12	332299	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08		332299	133519596	1128	128060											
CACNA1C	775	broad.mit.edu	37	chr12	2705045	2705045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctcccgtacaggtttcGcctccagtgccaccgcattg	8	18	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:2705045G>A	uc009zdu.1	+	20	2982	c.2669G>A	c.(2668-2670)CGC>CAC	p.R890H	CACNA1C_uc009zdv.1_Missense_Mutation_p.R887H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R890H|CACNA1C_uc001qke.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R890H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R890H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R890H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R890H|CACNA1C_uc001qko.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R890H|CACNA1C_uc001qku.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R890H|CACNA1C_uc001qks.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R890H|CACNA1C_uc001qka.1_Missense_Mutation_p.R425H|CACNA1C_uc001qki.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkj.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkk.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkm.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkw.2_Missense_Mutation_p.R179H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	890	III.|Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	TACAGGTTTCGCCTCCAGTGC	0.582													A	2705045	G	A	2705045	3	1	257	1	0	0	0	0	1	0	0	0	2540	1087	38	1	2855	1	CACNA1C	12	2705045	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2372746	2705045	131146850	1129	128061											
CACNA1C	775	broad.mit.edu	37	chr12	2760892	2760892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctgctgagccgtggggaGggcatccggacgctgctgtg	18	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:2760892G>T	uc009zdu.1	+	34	4489	c.4176G>T	c.(4174-4176)GAG>GAT	p.E1392D	CACNA1C_uc009zdv.1_Missense_Mutation_p.E1341D|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qke.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1331D|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1366D|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1392D|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qko.2_Missense_Mutation_p.E1364D|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1361D|CACNA1C_uc001qku.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1372D|CACNA1C_uc001qks.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qki.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1069D|CACNA1C_uc010sea.1_Missense_Mutation_p.E35D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1392	IV.|Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	GCCGTGGGGAGGGCATCCGGA	0.647													T	2760892	G	T	2760892	3	4	257	1	0	0	0	0	1	0	0	0	2540	991	35	5	4484	5	CACNA1C	12	2760892	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	55847	2760892	131091003	1130	128062											
C12orf5	57103	broad.mit.edu	37	chr12	4460458	4460458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggttgtagaaggcaaagCgctaagtgagctgagggcca	17	7	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:4460458C>T	uc001qmp.2	+	5	375	c.296C>T	c.(295-297)GCG>GTG	p.A99V		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	99						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GAAGGCAAAGCGCTAAGTGAG	0.473													T	4460458	C	T	4460458	3	4	257	1	0	0	0	0	1	0	0	0	1694	768	27	1	314	1	C12orf5	12	4460458	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1699566	4460458	129391437	1131	128063											
FGF23	8074	broad.mit.edu	37	chr12	4479890	4479890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgaggagagtggtagacGtcgtacccgttttccagcgt	13	9	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:4479890G>A	uc001qmq.1	-	3	521	c.375C>T	c.(373-375)GAC>GAT	p.D125D		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	125					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AGTGGTAGACGTCGTACCCGT	0.587													A	4479890	G	A	4479890	2	1	257	1	0	0	0	0	0	0	0	1	5852	1136	40	1		1	FGF23	12	4479890	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	19432	4479890	129372005	1132	128064											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc					rs80196697		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		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)			ACAACAGGGGGAAAAAAAGAT	0.393													-	4719362	A	-	4719362	7	5	257	1	0	1	0	1	0	0	0	0	4858	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	239472	4719362	129132533	1133	128065											
KCNA1	3736	broad.mit.edu	37	chr12	5020658	5020658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgagtgctgcgagcgCgtggtgatcaacatctccgg	14	12	2	1	rs146308797		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:5020658C>T	uc001qnh.2	+	2	1219	c.114C>T	c.(112-114)CGC>CGT	p.R38R		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	38					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTGCGAGCGCGTGGTGATCA	0.677													T	5020658	C	T	5020658	2	4	257	1	0	0	0	0	0	0	0	1	8001	755	27	1		1	KCNA1	12	5020658	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	301296	5020658	128831237	1134	128066											
ANO2	57101	broad.mit.edu	37	chr12	5687530	5687530	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctaagtggggcacgtAccgatatctttggttcttac	11	10	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:5687530A>G	uc001qnm.2	-	22	2458	c.2386_splice	c.e22+1	p.G796_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2							chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TGGGGCACGTACCGATATCTT	0.547													G	5687530	A	G	5687530	5	3	257	1	0	0	0	0	0	0	1	0	697	405	14	3	628	3	ANO2	12	5687530	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	666872	5687530	128164365	1135	128067											
VWF	7450	broad.mit.edu	37	chr12	6091088	6091088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacagcactgggtcttcCgaagggtgggcaaacggtgc	14	11	2	0	rs150201871	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:6091088C>T	uc001qnn.1	-	42	7401	c.7151G>A	c.(7150-7152)CGG>CAG	p.R2384Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2384					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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTGGGTCTTCCGAAGGGTGGG	0.587													T	6091088	C	T	6091088	3	4	257	1	0	0	0	0	1	0	0	0	17243	652	23	1	1334	1	VWF	12	6091088	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	403558	6091088	127760807	1136	128068											
LRRC23	10233	broad.mit.edu	37	chr12	7019089	7019089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggtggaaggcttggaGgatctgagcaatctcaccac	13	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:7019089G>A	uc001qrt.3	+	6	1049	c.657G>A	c.(655-657)GAG>GAA	p.E219E	LRRC23_uc001qrp.2_Silent_p.E219E|LRRC23_uc001qrq.2_Silent_p.E219E|LRRC23_uc001qrr.2_Silent_p.E168E|LRRC23_uc001qrs.2_Silent_p.E168E|LRRC23_uc009zfh.2_Intron	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	219	LRR 6.									ovary(1)	1						AAGGCTTGGAGGATCTGAGCA	0.502													A	7019089	G	A	7019089	2	1	257	1	0	0	0	0	0	0	0	1	8978	991	35	4		4	LRRC23	12	7019089	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	928001	7019089	126832806	1137	128069											
GDF3	9573	broad.mit.edu	37	chr12	7842723	7842723	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaaccccttgggggcaatGatccacttgtgccaacccag	10	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:7842723G>A	uc001qte.2	-	2	882	c.846C>T	c.(844-846)ATC>ATT	p.I282I		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	282					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						TGGGGGCAATGATCCACTTGT	0.522													A	7842723	G	A	7842723	2	1	257	1	0	0	0	0	0	0	0	1	6315	1280	45	4		4	GDF3	12	7842723	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	823634	7842723	126009172	1138	128070											
MAGOHB	55110	broad.mit.edu	37	chr12	10760484	10760484	+	Frame_Shift_Del	DEL	T	T	-													tacatcaataagagaacctaTttttgatgtggtaaaagata							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:10760483_10760483AT>A	uc001qyq.2	-	3	394	c.317_317AT>T	c.(316-318)atafs	p.I106fs	MAGOHB_uc001qyr.2_Non-coding_Transcript	NM_018048	NP_060518	Q96A72	MGN2_HUMAN	Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA.	106					RNA splicing|mRNA processing|mRNA transport	nucleus	RNA binding			breast(2)|large_intestine(2)	4						AAGAGAACCTATTTTTGATGT	0.294													-	10760484	T	-	10760484	7	5	257	1	0	1	0	1	0	0	0	0	9195	1493	52	0	138	0	MAGOHB	12	10760484	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	2917761	10760484	123091411	1139	128071											
GPR19	2842	broad.mit.edu	37	chr12	12815320	12815320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcggttttggaggggCaccagaagtgtaggaataat	15	6	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:12815320C>T	uc001rar.3	-	2	256	c.63G>A	c.(61-63)GTG>GTA	p.V21V	GPR19_uc001raq.2_Silent_p.V21V	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	21	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TTTGGAGGGGCACCAGAAGTG	0.443													T	12815320	C	T	12815320	2	4	257	1	0	0	0	0	0	0	0	1	6679	697	25	2		2	GPR19	12	12815320	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2054836	12815320	121036575	1140	128072											
GUCY2C	2984	broad.mit.edu	37	chr12	14834327	14834327	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtccattaagatatcctgAaactccttatcttgtcttaa	5	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:14834327A>G	uc001rcd.2	-	5	833	c.696T>C	c.(694-696)TTT>TTC	p.F232F	GUCY2C_uc009zhz.2_Silent_p.F232F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	232	Extracellular (Potential).				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			ovary(4)|skin(2)	6						AGATATCCTGAAACTCCTTAT	0.393													G	14834327	A	G	14834327	2	3	257	1	0	0	0	0	0	0	0	1	6896	243	9	3		3	GUCY2C	12	14834327	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2019007	14834327	119017568	1141	128073											
CAPZA3	93661	broad.mit.edu	37	chr12	18891439	18891439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaccacaatgtaatgggCgactaccgattttttgacca	7	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:18891439C>T	uc001rdy.2	+	1	395	c.237C>T	c.(235-237)GGC>GGT	p.G79G	PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	capping protein alpha 3	79					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			ovary(1)|central_nervous_system(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATGTAATGGGCGACTACCGAT	0.418													T	18891439	C	T	18891439	2	4	257	1	0	0	0	0	0	0	0	1	2642	755	27	1		1	CAPZA3	12	18891439	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4057112	18891439	114960456	1142	128074											
PDE3A	5139	broad.mit.edu	37	chr12	20522766	20522766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgggcgtcggggaggAtcacttactctcactccccg	14	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:20522766A>G	uc001reh.1	+	1	570	c.548A>G	c.(547-549)GAT>GGT	p.D183G		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	183					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTCGGGGAGGATCACTTACTC	0.721													G	20522766	A	G	20522766	3	3	257	1	0	0	0	0	1	0	0	0	11637	333	12	3	550	3	PDE3A	12	20522766	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1631327	20522766	113329129	1143	128075											
LST-3TM12	338821	broad.mit.edu	37	chr12	21176223	21176223	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcggatatgtggatctgagTaagtacaatcggaacgaggt	13	5	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:21176223T>C	uc010sin.1	+	5	586	c.586_splice	c.e5+2	p.S196_splice	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Splice_Site_p.S243_splice	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12							membrane	transporter activity				0						TGGATCTGAGTAAGTACAATC	0.363													C	21176223	T	C	21176223	5	2	257	1	0	0	0	0	0	0	1	0	9066	1652	57	3	606	3	LST-3TM12	12	21176223	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	653457	21176223	112675672	1144	128076											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354738	22354738	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accagaaaaagtcctgtggaCaggcgcttggcatggattcc	12	10	0	1	rs148302271		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:22354738C>G	uc001rfo.3	-	5	1301	c.819G>C	c.(817-819)CTG>CTC	p.L273L	ST8SIA1_uc009zix.2_Silent_p.L130L	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	273	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						GTCCTGTGGACAGGCGCTTGG	0.512													G	22354738	C	G	22354738	2	3	257	1	0	0	0	0	0	0	0	1	15230	465	17	5		5	ST8SIA1	12	22354738	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1178515	22354738	111497157	1145	128077											
ITPR2	3709	broad.mit.edu	37	chr12	26749901	26749901	+	Frame_Shift_Del	DEL	T	T	-													acttgatttcagtgtagacaTttttcccctctgtgcatgct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:26749900_26749900AT>A	uc001rhg.3	-	30	4587	c.4170_4170AT>T	c.(4168-4170)aatfs	p.N1390fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1390					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)					CAGTGTAGACATTTTTCCCCT	0.527													-	26749901	T	-	26749901	7	5	257	1	0	1	0	1	0	0	0	0	7921	1493	52	0	4044	0	ITPR2	12	26749901	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	4395163	26749901	107101994	1146	128078											
PPFIBP1	8496	broad.mit.edu	37	chr12	27813829	27813829	+	Frame_Shift_Del	DEL	A	A	-													attttcagacatcgaagtacAaaaaatgaaaaaagctgtgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:27813828_27813828CA>C	uc001ric.2	+	10	1293	c.916_916CA>C	c.(916-918)caafs	p.Q306fs	PPFIBP1_uc010sjr.1_Frame_Shift_Del_p.Q134fs|PPFIBP1_uc001rib.2_Frame_Shift_Del_p.Q286fs|PPFIBP1_uc001ria.3_Frame_Shift_Del_p.Q275fs|PPFIBP1_uc001rid.2_Frame_Shift_Del_p.Q153fs	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	306					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)					CATCGAAGTACAAAAAATGAA	0.323													-	27813829	A	-	27813829	7	5	257	1	0	1	0	1	0	0	0	0	12313	130	5	0	933	0	PPFIBP1	12	27813829	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1063928	27813829	106038066	1147	128079											
ERGIC2	51290	broad.mit.edu	37	chr12	29523049	29523049	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaaaaatgattacctAgaaaaatccttgtctacttc	4	7	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:29523049A>C	uc001riv.2	-	3	346	c.213T>G	c.(211-213)TCT>TCG	p.S71S	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	71	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	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)	ATGATTACCTAGAAAAATCCT	0.279													C	29523049	A	C	29523049	2	2	257	1	0	0	0	0	0	0	0	1	5224	407	15	5		5	ERGIC2	12	29523049	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1709220	29523049	104328846	1148	128080											
BICD1	636	broad.mit.edu	37	chr12	32491898	32491898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaggaaaaaaggttaAccgtggctccaccaggtaaa	10	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:32491898A>G	uc001rku.2	+	8	2830	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	917					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			large_intestine(1)|central_nervous_system(1)	2	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)			AAAAAGGTTAACCGTGGCTCC	0.507													G	32491898	A	G	32491898	3	3	257	1	0	0	0	0	1	0	0	0	1428	43	2	3	2779	3	BICD1	12	32491898	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2968849	32491898	101359997	1149	128081											
ALG10	84920	broad.mit.edu	37	chr12	34177009	34177009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtctgctccattgggaTgctcagatttgttaatcttc	9	8	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:34177009T>C	uc001rlm.2	+	2	603	c.284T>C	c.(283-285)ATG>ACG	p.M95T		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	95	Cytoplasmic (Potential).				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			skin(1)	1	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)				TCCATTGGGATGCTCAGATTT	0.388													C	34177009	T	C	34177009	3	2	257	1	0	0	0	0	1	0	0	0	511	1464	51	3	290	3	ALG10	12	34177009	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1685111	34177009	99674886	1150	128082											
PRICKLE1	144165	broad.mit.edu	37	chr12	42853627	42853627	+	Frame_Shift_Del	DEL	T	T	-													ttggttaagaaataatacaaTttttgcccttgtgtcccttt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:42853626_42853626AT>A	uc010skv.2	-	7	2768	c.2481_2481AT>T	c.(2479-2481)aatfs	p.N827fs	PRICKLE1_uc001rnl.3_Frame_Shift_Del_p.N827fs|PRICKLE1_uc010skw.2_Frame_Shift_Del_p.N827fs|PRICKLE1_uc001rnm.3_Frame_Shift_Del_p.N827fs|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	827					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)		AAATAATACAATTTTTGCCCT	0.398													-	42853627	T	-	42853627	7	5	257	1	0	1	0	1	0	0	0	0	12486	1493	52	0	19	0	PRICKLE1	12	42853627	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	8676618	42853627	90998268	1151	128083											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854130	42854130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcttcaaaattgtagacGcgtctccgagtcctttcact	6	13	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:42854130G>A	uc010skv.1	-	8	2264	c.1977C>T	c.(1975-1977)CGC>CGT	p.R659R	PRICKLE1_uc001rnl.2_Silent_p.R659R|PRICKLE1_uc010skw.1_Silent_p.R659R|PRICKLE1_uc001rnm.2_Silent_p.R659R|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	659	Arg/His-rich.				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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AATTGTAGACGCGTCTCCGAG	0.507													A	42854130	G	A	42854130	2	1	257	1	0	0	0	0	0	0	0	1	12486	1074	38	1		1	PRICKLE1	12	42854130	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	503	42854130	90997765	1152	128084											
ARID2	196528	broad.mit.edu	37	chr12	46245318	46245318	+	Frame_Shift_Del	DEL	G	G	-													caagtgcaatgccaccctcaGggggagtacaaactgtgccc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:46245317_46245317AG>A	uc001ros.1	+	14	3411	c.3411_3411AG>A	c.(3409-3411)tcafs	p.S1137fs	ARID2_uc001ror.3_Frame_Shift_Del_p.S1137fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.S593fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.S764fs|ARID2_uc001rou.1_Frame_Shift_Del_p.S471fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1137					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)		TGCCACCCTCAGGGGGAGTAC	0.512			"N, S, F"		hepatocellular carcinoma								-	46245318	G	-	46245318	7	5	257	1	0	1	0	1	0	0	0	0	915	1000	35	0	3470	0	ARID2	12	46245318	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	3391188	46245318	87606577	1153	128085											
TMEM106C	79022	broad.mit.edu	37	chr12	48361046	48361046	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatagtgatcttcatgcggTgcgtctctcttccctatccc	7	14	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:48361046T>C	uc001rqp.2	+	7	771	c.656_splice	c.e7+2	p.R219_splice	TMEM106C_uc001rqo.2_Splice_Site_p.R200_splice|TMEM106C_uc001rqr.2_Splice_Site_p.R219_splice|TMEM106C_uc001rqq.2_Splice_Site_p.R200_splice	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a							endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CTTCATGCGGTGCGTCTCTCT	0.512													C	48361046	T	C	48361046	5	2	257	1	0	0	0	0	0	0	1	0	16019	1710	59	3	680	3	TMEM106C	12	48361046	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2115728	48361046	85490849	1154	128086											
RND1	27289	broad.mit.edu	37	chr12	49259519	49259519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgagcttacatctggccAcgactggctggggggcccgt	15	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49259519A>G	uc001rsn.2	-	1	135	c.32T>C	c.(31-33)GTG>GCG	p.V11A		NM_014470	NP_055285	Q92730	RND1_HUMAN	GTP-binding protein RHO6 precursor	11					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			ovary(1)	1						ACATCTGGCCACGACTGGCTG	0.572													G	49259519	A	G	49259519	3	3	257	1	0	0	0	0	1	0	0	0	13419	159	6	3	686	3	RND1	12	49259519	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	898473	49259519	84592376	1155	128087											
MLL2	8085	broad.mit.edu	37	chr12	49431874	49431874	+	Frame_Shift_Del	DEL	C	C	-													gcccaagggtcctggctccaCcccccgcagcagggcctccc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49431873_49431873AC>A	uc001rta.4	-	33	9266	c.9266_9266GT>T	c.(9265-9267)gtgfs	p.V3089fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3089					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.V2819fs*9(1)|p.V3089fs*9(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCTGGCTCCACCCCCCGCAG	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49431874	C	-	49431874	7	5	257	1	0	1	0	1	0	0	0	0	9621	507	18	0	7432	0	MLL2	12	49431874	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	172355	49431874	84420021	1156	128088											
MLL2	8085	broad.mit.edu	37	chr12	49433919	49433919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagggggctttagggaaGgctcccctactgcctgaggg	17	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49433919G>T	uc001rta.3	-	31	7634	c.7634C>A	c.(7633-7635)CCT>CAT	p.P2545H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2545	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTTTAGGGAAGGCTCCCCTAC	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49433919	G	T	49433919	3	4	257	1	0	0	0	0	1	0	0	0	9621	1000	35	5	9075	5	MLL2	12	49433919	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2045	49433919	84417976	1157	128089											
MLL2	8085	broad.mit.edu	37	chr12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-													ataggcgcgatacctcaggtGggggggacataggtgattct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACA	0.632			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49445526	G	-	49445526	7	5	257	1	0	1	0	1	0	0	0	0	9621	1348	47	0	14853	0	MLL2	12	49445526	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	11607	49445526	84406369	1158	128090											
KCNH3	23416	broad.mit.edu	37	chr12	49935503	49935503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctctcacaaggacatcaGcgaaaccaagaaccgagggg	11	11	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49935503G>A	uc001ruh.1	+	3	661	c.401G>A	c.(400-402)AGC>AAC	p.S134N	KCNH3_uc010smj.1_Missense_Mutation_p.S74N	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	134	PAC.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						AAGGACATCAGCGAAACCAAG	0.592													A	49935503	G	A	49935503	3	1	257	1	0	0	0	0	1	0	0	0	8033	971	34	2	411	2	KCNH3	12	49935503	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	489977	49935503	83916392	1159	128091											
FAM186B	84070	broad.mit.edu	37	chr12	49994341	49994341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaactgctcctccttcatcGgttcctgttggctttcctcc	6	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49994341G>A	uc001ruo.2	-	4	1255	c.1082C>T	c.(1081-1083)CCG>CTG	p.P361L	FAM186B_uc010smk.1_Missense_Mutation_p.P271L	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	361						protein complex				ovary(1)	1						CTCCTTCATCGGTTCCTGTTG	0.562													A	49994341	G	A	49994341	3	1	257	1	0	0	0	0	1	0	0	0	5512	1116	39	1	1615	1	FAM186B	12	49994341	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	58838	49994341	83857554	1160	128092											
FMNL3	91010	broad.mit.edu	37	chr12	50052276	50052276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgttggtgaagggggccGacagggcgctgggtggctgc	22	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:50052276G>A	uc001ruv.1	-	6	788	c.554C>T	c.(553-555)TCG>TTG	p.S185L	FMNL3_uc001ruw.1_Intron|FMNL3_uc001ruu.1_Missense_Mutation_p.S35L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	185	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GAAGGGGGCCGACAGGGCGCT	0.602													A	50052276	G	A	50052276	3	1	257	1	0	0	0	0	1	0	0	0	5953	1059	37	1	2613	1	FMNL3	12	50052276	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	57935	50052276	83799619	1161	128093											
KRT73	319101	broad.mit.edu	37	chr12	53004574	53004574	+	Frame_Shift_Del	DEL	C	C	-													ggcatccttgagggcacagtCcccccgctgctcggcgtcag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:53004573_53004573TC>T	uc001sas.3	-	6	1192	c.1157_1157GA>A	c.(1156-1158)gacfs	p.D386fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	386	Coil 2.|Rod.					keratin filament	structural molecule activity	p.G385R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGGCACAGTCCCCCCGCTG	0.657													-	53004574	C	-	53004574	7	5	257	1	0	1	0	1	0	0	0	0	8486	855	30	0	478	0	KRT73	12	53004574	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	2952298	53004574	80847321	1162	128094											
KRT1	3848	broad.mit.edu	37	chr12	53070955	53070955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtctgccagcagtgatcTgcagctcttcatactaaaga	8	11	4	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:53070955T>C	uc001sau.1	-	6	1201	c.1142A>G	c.(1141-1143)CAG>CGG	p.Q381R	KRT1_uc001sav.1_Missense_Mutation_p.Q381R	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	381	Rod.|Coil 2.				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			ovary(1)|skin(1)	2						AGCAGTGATCTGCAGCTCTTC	0.418													C	53070955	T	C	53070955	3	2	257	1	0	0	0	0	1	0	0	0	8447	1580	55	3	808	3	KRT1	12	53070955	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	66381	53070955	80780940	1163	128095											
ITGB7	3695	broad.mit.edu	37	chr12	53585642	53585642	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaccaggaagtctcctcaCctgcttccagttgagttgtt	8	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:53585642C>T	uc009zmv.2	-	14	2387	c.2316_splice	c.e14+1	p.Q772_splice	ITGB7_uc001scc.2_Splice_Site_p.Q772_splice|ITGB7_uc010snz.1_Splice_Site	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						AGTCTCCTCACCTGCTTCCAG	0.577													T	53585642	C	T	53585642	5	4	257	1	0	0	0	0	0	0	1	0	7900	521	18	4	87	4	ITGB7	12	53585642	Splice_Site	SNP	C	TCGA-HU-8602-01A-11D-2394-08	514687	53585642	80266253	1164	128096											
CBX5	23468	broad.mit.edu	37	chr12	54639915	54639915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatttcattaggaacaTtaaatcaccacaggaatctg	5	10	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:54639915T>C	uc001sfh.3	-	4	727	c.409A>G	c.(409-411)ATG>GTG	p.M137V	CBX5_uc001sfk.3_Missense_Mutation_p.M137V|CBX5_uc001sfi.3_Missense_Mutation_p.M136V|CBX5_uc001sfj.3_Missense_Mutation_p.M137V	NM_001127322	NP_001120794	P45973	CBX5_HUMAN	heterochromatin protein 1-alpha	137	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding				0						ATTAGGAACATTAAATCACCA	0.423													C	54639915	T	C	54639915	3	2	257	1	0	0	0	0	1	0	0	0	2721	1493	52	3	174	3	CBX5	12	54639915	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1054273	54639915	79211980	1165	128097											
OR9K2	441639	broad.mit.edu	37	chr12	55523807	55523808	+	Frame_Shift_Ins	INS	-	-	T													ggctgaacacaccaatgtatINStttttcctaggcaatctctc					rs142523671		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:55523806_55523807A>AT	uc010spe.2	+	0	254_255	c.254_255A>AT	c.(253-255)tatfs	p.Y85fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	85					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						ACACCAATGTATTTTTTCCTAG	0.386													T	55523808	-	T	55523807	7	5	257	1	0	1	1	0	0	0	0	0	11254	1500	52	0	257	0	OR9K2	12	55523807	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	883892	55523807	78328088	1166	128098											
OR9K2	441639	broad.mit.edu	37	chr12	55524128	55524128	+	Frame_Shift_Del	DEL	T	T	-													agcatgacatttactttatcTttttgcgcttctcgggctgt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:55524127_55524127CT>C	uc010spe.2	+	0	575	c.575_575CT>C	c.(574-576)tctfs	p.S192fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192S(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTTACTTTATCTTTTTGCGCT	0.413													-	55524128	T	-	55524128	7	5	257	1	0	1	0	1	0	0	0	0	11254	1596	56	0	578	0	OR9K2	12	55524128	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	321	55524128	78327767	1167	128099											
OR6C4	341418	broad.mit.edu	37	chr12	55945307	55945307	+	Frame_Shift_Del	DEL	T	T	-													gctggctgcttgactcagtaTttttttgctatatttcttgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:55945306_55945306AT>A	uc010spp.2	+	0	296	c.296_296AT>A	c.(295-297)tatfs	p.Y99fs		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTGACTCAGTATTTTTTTGCT	0.403													-	55945307	T	-	55945307	7	5	257	1	0	1	0	1	0	0	0	0	11193	1500	52	0	299	0	OR6C4	12	55945307	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	421179	55945307	77906588	1168	128100											
ITGA7	3679	broad.mit.edu	37	chr12	56088079	56088079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcaatgaagacacgggctCgtgcagagactggatgcagc	14	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:56088079C>T	uc001shh.2	-	18	2625	c.2405G>A	c.(2404-2406)CGA>CAA	p.R802Q	ITGA7_uc001shg.2_Missense_Mutation_p.R798Q|ITGA7_uc010sps.1_Missense_Mutation_p.R705Q|ITGA7_uc009znw.2_Missense_Mutation_p.R45Q|ITGA7_uc009znx.2_Missense_Mutation_p.R679Q	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	842	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GACACGGGCTCGTGCAGAGAC	0.602													T	56088079	C	T	56088079	3	4	257	1	0	0	0	0	1	0	0	0	7881	884	31	1	1052	1	ITGA7	12	56088079	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	142772	56088079	77763816	1169	128101											
ERBB3	2065	broad.mit.edu	37	chr12	56481648	56481648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccccaaccagtgctgccAtgatgagtgtgccgggggct	13	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:56481648A>G	uc001sjh.2	+	6	876	c.683A>G	c.(682-684)CAT>CGT	p.H228R	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169R|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	228	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGTGCTGCCATGATGAGTGT	0.537													G	56481648	A	G	56481648	3	3	257	1	0	0	0	0	1	0	0	0	5208	217	8	3	836	3	ERBB3	12	56481648	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	393569	56481648	77370247	1170	128102											
ERBB3	2065	broad.mit.edu	37	chr12	56489535	56489535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcacttttctctactggcGtgggcgccggattcagaata	12	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:56489535G>A	uc001sjh.2	+	17	2193	c.2000G>A	c.(1999-2001)CGT>CAT	p.R667H	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R24H|ERBB3_uc010sqc.1_Missense_Mutation_p.R608H|ERBB3_uc009zok.2_Missense_Mutation_p.R109H|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	667	Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTCTACTGGCGTGGGCGCCGG	0.433													A	56489535	G	A	56489535	3	1	257	1	0	0	0	0	1	0	0	0	5208	1145	40	1	2197	1	ERBB3	12	56489535	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7887	56489535	77362360	1171	128103											
BAZ2A	11176	broad.mit.edu	37	chr12	57008967	57008967	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacataggagaagtctgtggGgaggtgaaaaaactaggggg	17	3	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57008967G>T	uc001slq.1	-	3	761	c.567C>A	c.(565-567)TCC>TCA	p.S189S	BAZ2A_uc001slp.1_Silent_p.S187S|BAZ2A_uc010sqr.1_Silent_p.S189S|BAZ2A_uc009zow.1_Intron	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	189					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				0						AAGTCTGTGGGGAGGTGAAAA	0.483													T	57008967	G	T	57008967	2	4	257	1	0	0	0	0	0	0	0	1	1331	1219	43	5		5	BAZ2A	12	57008967	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	519432	57008967	76842928	1172	128104											
ATP5B	506	broad.mit.edu	37	chr12	57033768	57033768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtaatatactcacctgcAggatcttttgcaccccacgg	7	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57033768A>G	uc001slr.2	-	8	1388	c.1283T>C	c.(1282-1284)CTG>CCG	p.L428P		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	428					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			ovary(1)	1						ACTCACCTGCAGGATCTTTTG	0.468													G	57033768	A	G	57033768	3	3	257	1	0	0	0	0	1	0	0	0	1148	188	7	3	318	3	ATP5B	12	57033768	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	24801	57033768	76818127	1173	128105											
SDR9C7	121214	broad.mit.edu	37	chr12	57324050	57324050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacgccaaacttggagaCgcagtagccaccaccaatga	8	14	1	2	rs142957654	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57324050C>T	uc010sqw.1	-	2	520	c.520G>A	c.(520-522)GTC>ATC	p.V174I		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	174						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						AACTTGGAGACGCAGTAGCCA	0.547													T	57324050	C	T	57324050	3	4	257	1	0	0	0	0	1	0	0	0	13974	536	19	1	433	1	SDR9C7	12	57324050	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	290282	57324050	76527845	1174	128106											
GPR182	11318	broad.mit.edu	37	chr12	57389505	57389505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccagcaccgagtgcggcGggccatgtgtgcaggcatct	14	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57389505G>A	uc001smk.2	+	2	606	c.512G>A	c.(511-513)CGG>CAG	p.R171Q	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CGAGTGCGGCGGGCCATGTGT	0.637													A	57389505	G	A	57389505	3	1	257	1	0	0	0	0	1	0	0	0	6677	1116	39	1	514	1	GPR182	12	57389505	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	65455	57389505	76462390	1175	128107											
LRP1	4035	broad.mit.edu	37	chr12	57589962	57589962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggccaggatgactgtggcGacagctcggacgagcgtggc	17	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57589962G>A	uc001snd.2	+	55	9260	c.8794G>A	c.(8794-8796)GAC>AAC	p.D2932N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2932	LDL-receptor class A 20.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACTGTGGCGACAGCTCGGA	0.607													A	57589962	G	A	57589962	3	1	257	1	0	0	0	0	1	0	0	0	8951	1058	37	1	9012	1	LRP1	12	57589962	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	200457	57589962	76261933	1176	128108											
GLI1	2735	broad.mit.edu	37	chr12	57858504	57858504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaagttgaccaagaagcGggcactgtccatctcacctc	9	13	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57858504G>A	uc001snx.2	+	4	320	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	81					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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCAAGAAGCGGGCACTGTCC	0.582													A	57858504	G	A	57858504	3	1	257	1	0	0	0	0	1	0	0	0	6437	1116	39	1	252	1	GLI1	12	57858504	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	268542	57858504	75993391	1177	128109											
GLI1	2735	broad.mit.edu	37	chr12	57861129	57861129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagtttgaagggtgccGgaagtcatactcacgcctcg	11	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57861129G>A	uc001snx.2	+	9	1004	c.926G>A	c.(925-927)CGG>CAG	p.R309Q	GLI1_uc009zpq.2_Missense_Mutation_p.R181Q	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	309	C2H2-type 3.				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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GAAGGGTGCCGGAAGTCATAC	0.537													A	57861129	G	A	57861129	3	1	257	1	0	0	0	0	1	0	0	0	6437	1116	39	1	956	1	GLI1	12	57861129	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2625	57861129	75990766	1178	128110											
MBD6	114785	broad.mit.edu	37	chr12	57919556	57919556	+	Frame_Shift_Del	DEL	C	C	-													actgtagtgatgccttaacaCcccctcccctgcccccgagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57919555_57919555AC>A	uc001soj.1	+	5	1028	c.804_804AC>A	c.(802-804)acafs	p.T268fs	MBD6_uc001sok.1_Frame_Shift_Del_p.T135fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	268	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ATGCCTTAACACCCCCTCCCC	0.642													-	57919556	C	-	57919556	7	5	257	1	0	1	0	1	0	0	0	0	9348	507	18	0	819	0	MBD6	12	57919556	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	58427	57919556	75932339	1179	128111											
MBD6	114785	broad.mit.edu	37	chr12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-													ccccctccaactcagggagaCccccccaactccttagccct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602													-	57921401	C	-	57921401	7	5	257	1	0	1	0	1	0	0	0	0	9348	507	18	0	2216	0	MBD6	12	57921401	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	1845	57921401	75930494	1180	128112											
PPM1H	57460	broad.mit.edu	37	chr12	63195674	63195674	+	Frame_Shift_Del	DEL	G	G	-													ttctcggtaaagaagcgtgtGgggggcgtgctgggggagcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:63195673_63195673TG>T	uc001srk.3	-	2	828	c.679_679CA>A	c.(679-681)acafs	p.T227fs		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	227	PP2C-like.						phosphoprotein phosphatase activity	p.T227fs*12(2)		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)		AAGAAGCGTGTGGGGGGCGTG	0.642													-	63195674	G	-	63195674	7	5	257	1	0	1	0	1	0	0	0	0	12341	1335	47	0	898	0	PPM1H	12	63195674	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	5274273	63195674	70656221	1181	128113											
GRIP1	23426	broad.mit.edu	37	chr12	66786223	66786223	+	Frame_Shift_Del	DEL	C	C	-													tgaggagtcctcctccacatCccccaggtcactcaaatggc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:66786223delC	uc001stk.2	-	18	2414	c.2173delG	c.(2173-2175)GATfs	p.D725fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.D669fs|GRIP1_uc001stj.2_Frame_Shift_Del_p.D507fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.D617fs|GRIP1_uc001stm.2_Frame_Shift_Del_p.D725fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	777					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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCTCCACATCCCCCAGGTCA	0.517													-	66786223	C	-	66786223	7	5	257	1	0	1	0	1	0	0	0	0	6787	855	30	0	1085	0	GRIP1	12	66786223	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	3590549	66786223	67065672	1182	128114											
MDM1	56890	broad.mit.edu	37	chr12	68709980	68709980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggtcccgagaaaaatgCgtcccctgaactcgcttcct	9	13	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:68709980C>T	uc001stz.2	-	8	1195	c.1059G>A	c.(1057-1059)ACG>ACA	p.T353T	MDM1_uc010stc.1_Silent_p.T318T|MDM1_uc009zqv.1_Silent_p.T73T	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	353						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGAAAAATGCGTCCCCTGAA	0.418													T	68709980	C	T	68709980	2	4	257	1	0	0	0	0	0	0	0	1	9412	755	27	1		1	MDM1	12	68709980	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1923757	68709980	65141915	1183	128115											
CPM	1368	broad.mit.edu	37	chr12	69265647	69265647	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgatgtgtatccgggtActattgatcagatttgtgat	12	5	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:69265647A>G	uc001sup.2	-	4	409	c.348T>C	c.(346-348)AGT>AGC	p.S116S	CPM_uc001sur.2_Silent_p.S116S|CPM_uc001suq.2_Silent_p.S116S	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	116					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	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)			GTATCCGGGTACTATTGATCA	0.468													G	69265647	A	G	69265647	2	3	257	1	0	0	0	0	0	0	0	1	3808	388	14	3		3	CPM	12	69265647	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	555667	69265647	64586248	1184	128116											
CCT2	10576	broad.mit.edu	37	chr12	69981979	69981979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccacagaccatcatagCgggttggagagaagccacga	11	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:69981979C>T	uc001svb.1	+	6	477	c.383C>T	c.(382-384)GCG>GTG	p.A128V	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.A128V|CCT2_uc010stl.1_Missense_Mutation_p.A81V	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	128					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|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)			ACCATCATAGCGGGTTGGAGA	0.358													T	69981979	C	T	69981979	3	4	257	1	0	0	0	0	1	0	0	0	2953	768	27	1	405	1	CCT2	12	69981979	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	716332	69981979	63869916	1185	128117											
PTPRB	5787	broad.mit.edu	37	chr12	70963520	70963520	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcaatcatgatctggTactgctccccggcctccagt	10	14	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:70963520T>C	uc001swb.3	-	12	2945	c.2915A>G	c.(2914-2916)TAC>TGC	p.Y972C	PTPRB_uc010sto.1_Missense_Mutation_p.Y972C|PTPRB_uc010stp.1_Missense_Mutation_p.Y882C|PTPRB_uc001swc.3_Missense_Mutation_p.Y1190C|PTPRB_uc001swa.3_Missense_Mutation_p.Y1102C|PTPRB_uc001swd.3_Missense_Mutation_p.Y1189C|PTPRB_uc009zrr.1_Missense_Mutation_p.Y1069C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	972	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			CATGATCTGGTACTGCTCCCC	0.527													C	70963520	T	C	70963520	3	2	257	1	0	0	0	0	1	0	0	0	12796	1638	57	3	3162	3	PTPRB	12	70963520	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	981541	70963520	62888375	1186	128118											
PTPRR	5801	broad.mit.edu	37	chr12	71286727	71286727	+	Frame_Shift_Del	DEL	A	A	-													tcttcttctgattaattgccAaaaaatgatcattgtttcct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:71286726_71286726CA>C	uc001swi.2	-	1	504	c.90_90TG>G	c.(88-90)ttgfs	p.L30fs		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	30					in utero embryonic development	Golgi apparatus|cell surface|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)		GATTAATTGCCAAAAAATGAT	0.383													-	71286727	A	-	71286727	7	5	257	1	0	1	0	1	0	0	0	0	12810	131	5	0	1936	0	PTPRR	12	71286727	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	323207	71286727	62565168	1187	128119											
PTPRR	5801	broad.mit.edu	37	chr12	71314119	71314119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaccccttacctgcagCgtgaagattaaggagcaggc	12	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:71314119C>T	uc001swi.1	-	1	468	c.52G>A	c.(52-54)GCT>ACT	p.A18T		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	18					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			skin(2)|ovary(1)	3			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)		TTACCTGCAGCGTGAAGATTA	0.537													T	71314119	C	T	71314119	3	4	257	1	0	0	0	0	1	0	0	0	12810	768	27	1	1977	1	PTPRR	12	71314119	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	27392	71314119	62537776	1188	128120											
TBC1D15	64786	broad.mit.edu	37	chr12	72315179	72315179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtccatgaaaattgatgTggaagatatactctgcaagg	10	5	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:72315179T>C	uc001swu.2	+	17	1874	c.1865T>C	c.(1864-1866)GTG>GCG	p.V622A	TBC1D15_uc010stt.1_Missense_Mutation_p.V591A|TBC1D15_uc001swv.2_Missense_Mutation_p.V605A|TBC1D15_uc001sww.2_Missense_Mutation_p.V354A	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	600							protein binding|Rab GTPase activator activity				0						AAAATTGATGTGGAAGATATA	0.289													C	72315179	T	C	72315179	3	2	257	1	0	0	0	0	1	0	0	0	15601	1696	59	3	1989	3	TBC1D15	12	72315179	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1001060	72315179	61536716	1189	128121											
TRHDE	29953	broad.mit.edu	37	chr12	72666936	72666936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcggcccagccgccgtcGgaggaggagcgggagccgtg	19	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:72666936G>A	uc001sxa.2	+	1	408	c.378G>A	c.(376-378)TCG>TCA	p.S126S	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	126	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						AGCCGCCGTCGGAGGAGGAGC	0.721													A	72666936	G	A	72666936	2	1	257	1	0	0	0	0	0	0	0	1	16476	1103	39	1		1	TRHDE	12	72666936	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	351757	72666936	61184959	1190	128122											
BBS10	79738	broad.mit.edu	37	chr12	76739905	76739905	+	Frame_Shift_Del	DEL	T	T	-													gtttcttctgattgatggcaTtttttggcataattgagaag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:76739904_76739904AT>A	uc001syd.1	-	1	1945	c.1861_1861AT>T	c.(1861-1863)tgcfs	p.C621fs		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	621					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						GATTGATGGCATTTTTTGGCA	0.358									Bardet-Biedl syndrome				-	76739905	T	-	76739905	7	5	257	1	0	1	0	1	0	0	0	0	1336	1490	52	0	315	0	BBS10	12	76739905	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	4072969	76739905	57111990	1191	128123											
E2F7	144455	broad.mit.edu	37	chr12	77458398	77458398	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcaggtcttttagtgtTaaacaatttacctccatctg	6	9	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:77458398T>C	uc001sym.3	-	2	254	c.18A>G	c.(16-18)TTA>TTG	p.L6L	E2F7_uc001syn.2_Silent_p.L6L	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	6					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						CTTTTAGTGTTAAACAATTTA	0.348													C	77458398	T	C	77458398	2	2	257	1	0	0	0	0	0	0	0	1	4872	1751	61	3		3	E2F7	12	77458398	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	718493	77458398	56393497	1192	128124											
SLC6A15	55117	broad.mit.edu	37	chr12	85264403	85264403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcaggaaaatgtgtcAtcgcttctgtaaaggcaata	11	6	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:85264403A>G	uc001szv.2	-	9	1842	c.1349T>C	c.(1348-1350)ATG>ACG	p.M450T	SLC6A15_uc010sul.1_Missense_Mutation_p.M343T|SLC6A15_uc001szw.1_Missense_Mutation_p.M158T	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	450	Extracellular (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						AAAATGTGTCATCGCTTCTGT	0.423													G	85264403	A	G	85264403	3	3	257	1	0	0	0	0	1	0	0	0	14678	217	8	3	859	3	SLC6A15	12	85264403	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	7806005	85264403	48587492	1193	128125											
PLXNC1	10154	broad.mit.edu	37	chr12	94620985	94620985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagacccaaggagaacaagGggaacagaaccaaccaggct	12	10	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:94620985G>T	uc001tdc.2	+	9	2203	c.1954G>T	c.(1954-1956)GGG>TGG	p.G652W		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	652	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GGAGAACAAGGGGAACAGAAC	0.483													T	94620985	G	T	94620985	3	4	257	1	0	0	0	0	1	0	0	0	12126	1232	43	5	1988	5	PLXNC1	12	94620985	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	9356582	94620985	39230910	1194	128126											
HAL	3034	broad.mit.edu	37	chr12	96389536	96389536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggcgcacaaggaagtgCgcgtcatccacggaggtgaa	14	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:96389536C>T	uc001tem.1	-	2	450	c.153G>A	c.(151-153)GCG>GCA	p.A51A	HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Silent_p.A51A	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	51					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	CAAGGAAGTGCGCGTCATCCA	0.632													T	96389536	C	T	96389536	2	4	257	1	0	0	0	0	0	0	0	1	6947	755	27	1		1	HAL	12	96389536	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1768551	96389536	37462359	1195	128127											
SLC5A8	160728	broad.mit.edu	37	chr12	101603634	101603634	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgtgtccatggccgcaCggtcgcctgagccctgcgcg	16	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:101603634C>T	uc001thz.3	-	1	383	c.-7G>A	c.(-9--5)CCGTG>CCATG			NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						CATGGCCGCACGGTCGCCTGA	0.711													T	101603634	C	T	101603634	1	4	257	1	0	0	0	0	0	0	0	0	14671	551	19	1		1	SLC5A8	12	101603634	Translation_Start_Site	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5214098	101603634	32248261	1196	128128											
SYCP3	50511	broad.mit.edu	37	chr12	102128805	102128805	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctctttctcttggcaagaaGagccttgttaatgtcaacta	7	9	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:102128805G>A	uc001tiq.2	-	5	385	c.253C>T	c.(253-255)CTT>TTT	p.L85F	SYCP3_uc001tir.2_Missense_Mutation_p.L85F|SYCP3_uc001tis.2_Missense_Mutation_p.L85F	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	85					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0						TTGGCAAGAAGAGCCTTGTTA	0.303													A	102128805	G	A	102128805	3	1	257	1	0	0	0	0	1	0	0	0	15431	942	33	4	477	4	SYCP3	12	102128805	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	525171	102128805	31723090	1197	128129											
STAB2	55576	broad.mit.edu	37	chr12	104109638	104109638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggctgtgacaagaatgCggagtgcacacagacaggac	15	8	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104109638C>T	uc001tjw.2	+	43	4769	c.4583C>T	c.(4582-4584)GCG>GTG	p.A1528V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1528	Extracellular (Potential).|EGF-like 13.				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			ovary(9)|skin(5)	14						GACAAGAATGCGGAGTGCACA	0.502													T	104109638	C	T	104109638	3	4	257	1	0	0	0	0	1	0	0	0	15237	768	27	1	4753	1	STAB2	12	104109638	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1980833	104109638	29742257	1198	128130											
STAB2	55576	broad.mit.edu	37	chr12	104155138	104155138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacatctttgcctccaatGggatcattcatgtcatttcc	8	11	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104155138G>T	uc001tjw.2	+	66	7495	c.7309G>T	c.(7309-7311)GGG>TGG	p.G2437W	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2437	Extracellular (Potential).|FAS1 7.				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			ovary(9)|skin(5)	14						TGCCTCCAATGGGATCATTCA	0.542													T	104155138	G	T	104155138	3	4	257	1	0	0	0	0	1	0	0	0	15237	1348	47	5	7571	5	STAB2	12	104155138	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	45500	104155138	29696757	1199	128131											
GLT8D2	83468	broad.mit.edu	37	chr12	104397048	104397048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaaatcaccacaggaatcTcttcttccagttcttcagga	5	13	5	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104397048T>C	uc001tkh.1	-	5	555	c.149A>G	c.(148-150)GAG>GGG	p.E50G	GLT8D2_uc001tki.1_Missense_Mutation_p.E50G	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	50	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						CACAGGAATCTCTTCTTCCAG	0.448													C	104397048	T	C	104397048	3	2	257	1	0	0	0	0	1	0	0	0	6470	1551	54	3	928	3	GLT8D2	12	104397048	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	241910	104397048	29454847	1200	128132											
EID3	493861	broad.mit.edu	37	chr12	104698567	104698567	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgccaatattagagccGatgaatgttaaccaaatggg	11	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104698567G>A	uc001tkw.2	+	1	1019	c.855G>A	c.(853-855)CCG>CCA	p.P285P	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						TATTAGAGCCGATGAATGTTA	0.383													A	104698567	G	A	104698567	2	1	257	1	0	0	0	0	0	0	0	1	4989	1045	37	1		1	EID3	12	104698567	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	301519	104698567	29153328	1201	128133											
TXNRD1	7296	broad.mit.edu	37	chr12	104742171	104742171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaagcgctctggggcaaGcatcctccaggctggctgct	13	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104742171G>A	uc010swk.1	+	17	1944	c.1922G>A	c.(1921-1923)AGC>AAC	p.S641N	TXNRD1_uc010swl.1_Missense_Mutation_p.S491N|TXNRD1_uc010swm.1_Missense_Mutation_p.S543N|TXNRD1_uc010swn.1_Missense_Mutation_p.S491N|TXNRD1_uc010swo.1_Missense_Mutation_p.S491N|TXNRD1_uc010swp.1_Missense_Mutation_p.S453N|TXNRD1_uc010swq.1_Missense_Mutation_p.S541N|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.S557N	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	641				S -> R (in Ref. 3; AAC69621).	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				0						TCTGGGGCAAGCATCCTCCAG	0.532													A	104742171	G	A	104742171	3	1	257	1	0	0	0	0	1	0	0	0	16804	971	34	2	2002	2	TXNRD1	12	104742171	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	43604	104742171	29109724	1202	128134											
KIAA1033	23325	broad.mit.edu	37	chr12	105556575	105556575	+	Frame_Shift_Del	DEL	A	A	-													gttgcaaggaaaaattaaatAaaaaaaataaaattggagct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:105556574_105556574TA>T	uc010swr.2	+	29	3198	c.3111_3111TA>T	c.(3109-3111)aatfs	p.N1037fs	KIAA1033_uc001tld.3_Frame_Shift_Del_p.N1036fs|KIAA1033_uc010sws.2_Frame_Shift_Del_p.N848fs	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	1036					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						aaaaattaaataaaaaaaata	0.299													-	105556575	A	-	105556575	7	5	257	1	0	1	0	1	0	0	0	0	8206	363	13	0	3227	0	KIAA1033	12	105556575	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	814404	105556575	28295320	1203	128135											
NUAK1	9891	broad.mit.edu	37	chr12	106532331	106532331	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcggcttcctgggctccAgggctgcagtcgcccccgcc	14	18	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:106532331A>C	uc001tlj.1	-	1	1481	c.101T>G	c.(100-102)CTG>CGG	p.L34R		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	34							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCTGGGCTCCAGGGCTGCAGT	0.721													C	106532331	A	C	106532331	3	2	257	1	0	0	0	0	1	0	0	0	10712	188	7	5	1912	5	NUAK1	12	106532331	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	975756	106532331	27319564	1204	128136											
POLR3B	55703	broad.mit.edu	37	chr12	106831541	106831541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgtaacattgcactgtacGaacacacaattaataagtaa	5	7	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:106831541G>A	uc001tlp.2	+	18	2161	c.1939G>A	c.(1939-1941)GAA>AAA	p.E647K	POLR3B_uc001tlq.2_Missense_Mutation_p.E589K	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	647					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			ovary(1)|central_nervous_system(1)	2						TGCACTGTACGAACACACAAT	0.328													A	106831541	G	A	106831541	3	1	257	1	0	0	0	0	1	0	0	0	12229	1059	37	1	2009	1	POLR3B	12	106831541	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	299210	106831541	27020354	1205	128137											
RFX4	5992	broad.mit.edu	37	chr12	107126786	107126786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttctccagcaaaatctgCcacatctgtggaagtgccac	8	12	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:107126786C>T	uc001tlr.2	+	15	1622	c.1556C>T	c.(1555-1557)GCC>GTC	p.A519V	RFX4_uc001tls.2_Missense_Mutation_p.A528V|RFX4_uc001tlt.2_Missense_Mutation_p.A528V|RFX4_uc001tlv.2_Missense_Mutation_p.A425V	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	519					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						GCAAAATCTGCCACATCTGTG	0.512													T	107126786	C	T	107126786	3	4	257	1	0	0	0	0	1	0	0	0	13265	739	26	2	1787	2	RFX4	12	107126786	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	295245	107126786	26725109	1206	128138											
SART3	9733	broad.mit.edu	37	chr12	108917393	108917393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcagtagagacagctgCgtccttcccttccccctcct	9	17	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:108917393C>T	uc001tmz.1	-	19	2968	c.2733G>A	c.(2731-2733)ACG>ACA	p.T911T	SART3_uc001tmy.1_Silent_p.T437T|SART3_uc009zux.1_Silent_p.T523T|SART3_uc010swx.1_Silent_p.T875T	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	911					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GAGACAGCTGCGTCCTTCCCT	0.567									Porokeratosis				T	108917393	C	T	108917393	2	4	257	1	0	0	0	0	0	0	0	1	13847	755	27	1		1	SART3	12	108917393	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1790607	108917393	24934502	1207	128139											
ACACB	32	broad.mit.edu	37	chr12	109577472	109577472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaaagatgccggtcggCggagaaactccctaccaccc	10	17	0	2	rs140156252		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:109577472C>T	uc001tob.2	+	2	381	c.262C>T	c.(262-264)CGG>TGG	p.R88W	ACACB_uc001toc.2_Missense_Mutation_p.R88W	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	88					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TGCCGGTCGGCGGAGAAACTC	0.637													T	109577472	C	T	109577472	3	4	257	1	0	0	0	0	1	0	0	0	107	759	27	1	264	1	ACACB	12	109577472	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	660079	109577472	24274423	1208	128140											
ACACB	32	broad.mit.edu	37	chr12	109684178	109684178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtggcagccaacagtggCgcccgtattggcatggcaga	14	11	0	1	rs147193472	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:109684178C>T	uc001tob.2	+	39	5615	c.5496C>T	c.(5494-5496)GGC>GGT	p.G1832G	ACACB_uc001toc.2_Silent_p.G1832G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.G498G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1832	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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CCAACAGTGGCGCCCGTATTG	0.587													T	109684178	C	T	109684178	2	4	257	1	0	0	0	0	0	0	0	1	107	755	27	1		1	ACACB	12	109684178	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	106706	109684178	24167717	1209	128141											
KCTD10	83892	broad.mit.edu	37	chr12	109895795	109895795	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaagggtgcctccaacatAccttatttgaagtcgctata	7	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:109895795A>G	uc001toi.1	-	4	562	c.474_splice	c.e4+1	p.K158_splice	KCTD10_uc001toh.1_Intron|KCTD10_uc009zvi.1_Splice_Site_p.K155_splice|KCTD10_uc001toj.1_Splice_Site_p.K167_splice|KCTD10_uc001tok.1_Splice_Site	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain						proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CCTCCAACATACCTTATTTGA	0.383													G	109895795	A	G	109895795	5	3	257	1	0	0	0	0	0	0	1	0	8097	405	14	3	481	3	KCTD10	12	109895795	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	211617	109895795	23956100	1210	128142											
ANAPC7	51434	broad.mit.edu	37	chr12	110834095	110834095	+	Missense_Mutation	SNP	A	A	T													ctttgtggagtagatgcagaAtttccagttgaaggtctcac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:110834095A>T	uc001tqo.2	-	2	367	c.366T>A	c.(364-366)AAT>AAA	p.N122K	ANAPC7_uc001tqp.3_Missense_Mutation_p.N122K	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	122					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	protein phosphatase binding				0						TAGATGCAGAATTTCCAGTTG	0.363													T	110834095	A	T	110834095	3	4	257	1	0	0	0	0	1	0	0	0	606	98	4	5	1477	5	ANAPC7	12	110834095	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	938300	110834095	23017800	1211	128143	663	2									
ANAPC7	51434	broad.mit.edu	37	chr12	110834100	110834100	+	Missense_Mutation	SNP	C	C	T													tggagtagatgcagaatttcCagttgaaggtctcacttttg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:110834100C>T	uc001tqo.2	-	2	362	c.361G>A	c.(361-363)GGA>AGA	p.G121R	ANAPC7_uc001tqp.3_Missense_Mutation_p.G121R	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	121					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	protein phosphatase binding				0						GCAGAATTTCCAGTTGAAGGT	0.353													T	110834100	C	T	110834100	3	4	257	1	0	0	0	0	1	0	0	0	606	603	21	4	1482	4	ANAPC7	12	110834100	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5	110834100	23017795	1212	128144	663	2									
CUX2	23316	broad.mit.edu	37	chr12	111779753	111779753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggaggcactgcggaaGgcctatcagctggaacccta	14	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:111779753G>A	uc001tsa.1	+	21	3708	c.3555G>A	c.(3553-3555)AAG>AAA	p.K1185K		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1185	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CACTGCGGAAGGCCTATCAGC	0.622													A	111779753	G	A	111779753	2	1	257	1	0	0	0	0	0	0	0	1	4065	991	35	4		4	CUX2	12	111779753	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	945653	111779753	22072142	1213	128145											
CUX2	23316	broad.mit.edu	37	chr12	111785603	111785603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctgaggaagaggcagGcagccagccccaggactcag	16	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:111785603G>A	uc001tsa.1	+	22	4088	c.3935G>A	c.(3934-3936)GGC>GAC	p.G1312D		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAAGAGGCAGGCAGCCAGCCC	0.612													A	111785603	G	A	111785603	3	1	257	1	0	0	0	0	1	0	0	0	4065	1203	42	2	4021	2	CUX2	12	111785603	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5850	111785603	22066292	1214	128146											
C12orf51	283450	broad.mit.edu	37	chr12	112668612	112668612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcccactgatgaagggaCgcacaggatcagtcctgcaa	11	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:112668612C>T	uc009zwc.2	-	33	4967	c.4949G>A	c.(4948-4950)CGT>CAT	p.R1650H	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GATGAAGGGACGCACAGGATC	0.498													T	112668612	C	T	112668612	3	4	257	1	0	0	0	0	1	0	0	0	1696	536	19	1	7189	1	C12orf51	12	112668612	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	883009	112668612	21183283	1215	128147											
RBM19	9904	broad.mit.edu	37	chr12	114282497	114282497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgagcggccgtcttccGccgcagggcctgcagggtca	15	13	2	1	rs150329912	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:114282497G>A	uc009zwi.2	-	23	2905	c.2761C>T	c.(2761-2763)CGG>TGG	p.R921W	RBM19_uc001tvn.3_Missense_Mutation_p.R921W|RBM19_uc001tvm.2_Missense_Mutation_p.R921W	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	921					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCCGTCTTCCGCCGCAGGGCC	0.652													A	114282497	G	A	114282497	3	1	257	1	0	0	0	0	1	0	0	0	13121	1086	38	1	129	1	RBM19	12	114282497	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1613885	114282497	19569398	1216	128148											
RBM19	9904	broad.mit.edu	37	chr12	114352803	114352803	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcggatctcccggctgtgGgcctggaaggggatgttccg	16	11	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:114352803G>T	uc009zwi.2	-	21	2673	c.2529C>A	c.(2527-2529)GCC>GCA	p.A843A	RBM19_uc001tvn.3_Silent_p.A843A|RBM19_uc001tvm.2_Silent_p.A843A	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	843	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCCGGCTGTGGGCCTGGAAGG	0.607													T	114352803	G	T	114352803	2	4	257	1	0	0	0	0	0	0	0	1	13121	1219	43	5		5	RBM19	12	114352803	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	70306	114352803	19499092	1217	128149											
FBXW8	26259	broad.mit.edu	37	chr12	117423059	117423059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaagtaccctgttcatcGttttgagcacgatgcaagaa	10	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:117423059G>A	uc001twg.1	+	6	966	c.884G>A	c.(883-885)CGT>CAT	p.R295H	FBXW8_uc001twf.1_Missense_Mutation_p.R229H|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	295							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCTGTTCATCGTTTTGAGCAC	0.423													A	117423059	G	A	117423059	3	1	257	1	0	0	0	0	1	0	0	0	5770	1145	40	1	906	1	FBXW8	12	117423059	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3070256	117423059	16428836	1218	128150											
NOS1	4842	broad.mit.edu	37	chr12	117660596	117660596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttggcctgcagggtcTcttccctgtagatatgatct	10	10	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:117660596T>G	uc001twm.1	-	26	4585	c.3899A>C	c.(3898-3900)GAG>GCG	p.E1300A		NM_000620	NP_000611	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			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGCAGGGTCTCTTCCCTGTA	0.577													G	117660596	T	G	117660596	3	3	257	1	0	0	0	0	1	0	0	0	10541	1551	54	5	421	5	NOS1	12	117660596	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	237537	117660596	16191299	1219	128151											
KSR2	283455	broad.mit.edu	37	chr12	118105362	118105362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaggagcggagggagCgctcggacagcagcggggag	20	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:118105362C>T	uc001two.2	-	5	1056	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	363					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGAGGGAGCGCTCGGACAG	0.597													T	118105362	C	T	118105362	3	4	257	1	0	0	0	0	1	0	0	0	8582	768	27	1	1828	1	KSR2	12	118105362	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	444766	118105362	15746533	1220	128152											
SRRM4	84530	broad.mit.edu	37	chr12	119563240	119563240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatcaccgctgcccctcGcggtcccagagctcggagtc	11	19	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:119563240G>A	uc001txa.1	+	7	862	c.570G>A	c.(568-570)TCG>TCA	p.S190S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	190	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						GCTGCCCCTCGCGGTCCCAGA	0.542													A	119563240	G	A	119563240	2	1	257	1	0	0	0	0	0	0	0	1	15170	1074	38	1		1	SRRM4	12	119563240	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1457878	119563240	14288655	1221	128153											
SPPL3	121665	broad.mit.edu	37	chr12	121205319	121205319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttttgtagttgtcatagCgaaggacaaagcatagtagg	12	5	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:121205319C>T	uc001tzd.2	-	9	1332	c.851G>A	c.(850-852)CGC>CAC	p.R284H	SPPL3_uc009zwz.2_Missense_Mutation_p.R277H|SPPL3_uc001tzc.2_Missense_Mutation_p.R114H	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	285						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTGTCATAGCGAAGGACAAA	0.542													T	121205319	C	T	121205319	3	4	257	1	0	0	0	0	1	0	0	0	15089	768	27	1	315	1	SPPL3	12	121205319	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1642079	121205319	12646576	1222	128154											
OASL	8638	broad.mit.edu	37	chr12	121461798	121461798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggagccattaccttcaCgttccagctggagatggggt	14	9	1	2	rs80137384	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:121461798C>T	uc001tzj.1	-	5	1048	c.1042G>A	c.(1042-1044)GTG>ATG	p.V348M	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	348					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTACCTTCACGTTCCAGCTG	0.478													T	121461798	C	T	121461798	3	4	257	1	0	0	0	0	1	0	0	0	10802	536	19	1	510	1	OASL	12	121461798	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	256479	121461798	12390097	1223	128155											
ANAPC5	51433	broad.mit.edu	37	chr12	121773377	121773377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcggcaagattcagagcGgcgtatctcaagctccggcc	14	12	2	2	rs151169485		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:121773377G>A	uc001uag.2	-	7	1031	c.909C>T	c.(907-909)GCC>GCT	p.A303A	ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_5'UTR|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Silent_p.A204A|ANAPC5_uc001uai.1_5'UTR	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	303	TPR 1.				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			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATTCAGAGCGGCGTATCTCA	0.483													A	121773377	G	A	121773377	2	1	257	1	0	0	0	0	0	0	0	1	605	1103	39	1		1	ANAPC5	12	121773377	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	311579	121773377	12078518	1224	128156											
SBNO1	55206	broad.mit.edu	37	chr12	123798171	123798171	+	Frame_Shift_Del	DEL	A	A	-													tatttgtagaagttacctttAaaaaattctccaggatagtc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:123798171delA	uc010tap.1	-	23	3216	c.3216delT	c.(3214-3216)TTTfs	p.F1072fs	SBNO1_uc010tao.1_Frame_Shift_Del_p.F1071fs|SBNO1_uc010taq.1_Frame_Shift_Del_p.F23fs|SBNO1_uc001ues.1_Frame_Shift_Del_p.F23fs	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1072							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGTTACCTTTAAAAAATTCTC	0.313													-	123798171	A	-	123798171	7	5	257	1	0	1	0	1	0	0	0	0	13862	359	13	0	1001	0	SBNO1	12	123798171	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	2024794	123798171	10053724	1225	128157											
TMED2	10959	broad.mit.edu	37	chr12	124074934	124074934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaatgagctagcagtggCgatgacagctgtaaagcacg	13	8	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:124074934C>T	uc001ufg.2	+	3	527	c.419C>T	c.(418-420)GCG>GTG	p.A140V		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	140	Lumenal (Potential).				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CTAGCAGTGGCGATGACAGCT	0.408													T	124074934	C	T	124074934	3	4	257	1	0	0	0	0	1	0	0	0	16001	768	27	1	429	1	TMED2	12	124074934	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	276763	124074934	9776961	1226	128158											
TMEM132D	121256	broad.mit.edu	37	chr12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-													ctcctcccggcaaccaccgtGggggggctgaaccagctgga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:130184704_130184704TG>T	uc009zyl.1	-	1	947	c.619_619CA>A	c.(619-621)acgfs	p.T207fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	207						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)		GCAACCACCGTGGGGGGGCTG	0.711													-	130184705	G	-	130184705	7	5	257	1	0	1	0	1	0	0	0	0	16044	1335	47	0	2713	0	TMEM132D	12	130184705	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	6109771	130184705	3667190	1227	128159											
STX2	2054	broad.mit.edu	37	chr12	131283100	131283100	+	Frame_Shift_Del	DEL	T	T	-													ttgctctgatatttgatagcTttttttgtttcttctttagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:131283099_131283099CT>C	uc001uio.3	-	8	924	c.757_757AG>G	c.(757-759)gctfs	p.A253fs	STX2_uc001uip.3_Frame_Shift_Del_p.A253fs|STX2_uc010tbj.2_Frame_Shift_Del_p.A253fs	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	253	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	SNAP receptor activity|calcium-dependent protein binding			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)		TATTTGATAGCTTTTTTTGTT	0.338													-	131283100	T	-	131283100	7	5	257	1	0	1	0	1	0	0	0	0	15344	1606	56	0	200	0	STX2	12	131283100	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1098395	131283100	2568795	1228	128160											
EP400	57634	broad.mit.edu	37	chr12	132546710	132546710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccagcccccgccacgggCagtcggctccccagccacgg	11	22	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:132546710C>T	uc001ujn.2	+	45	7975	c.7940C>T	c.(7939-7941)GCA>GTA	p.A2647V	EP400_uc001ujl.2_Missense_Mutation_p.A2646V|EP400_uc001ujm.2_Missense_Mutation_p.A2566V|EP400_uc001ujp.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2683	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CCGCCACGGGCAGTCGGCTCC	0.632													T	132546710	C	T	132546710	3	4	257	1	0	0	0	0	1	0	0	0	5149	710	25	2	8115	2	EP400	12	132546710	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1263610	132546710	1305185	1229	128161											
XPO4	64328	broad.mit.edu	37	chr13	21396422	21396422	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatcttctctgatttttcGatgtacctgttagaaagaat	7	6	2	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:21396422G>A	uc001unq.3	-	8	883	c.847C>T	c.(847-849)CGA>TGA	p.R283*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	283					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		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)		CTGATTTTTCGATGTACCTGT	0.398													A	21396422	G	A	21396422	4	1	257	1	0	0	0	0	0	1	0	0	17443	1066	37	1	2672	1	XPO4	13	21396422	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08		21396422	93773456	1230	128162											
SACS	26278	broad.mit.edu	37	chr13	23909640	23909640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtatgtctttgagctgcCtctttttagtaacactatca	7	9	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:23909640C>A	uc001uon.2	-	10	8964	c.8375G>T	c.(8374-8376)AGG>ATG	p.R2792M	SACS_uc001uoo.2_Missense_Mutation_p.R2645M|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2792					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TTTGAGCTGCCTCTTTTTAGT	0.363													A	23909640	C	A	23909640	3	1	257	1	0	0	0	0	1	0	0	0	13804	681	24	5	5368	5	SACS	13	23909640	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2513218	23909640	91260238	1231	128163											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465776	24465776	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaatttaatgggcacAtctgaagaaggaaacttgct	8	6	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:24465776A>G	uc010tcw.1	-	3	654	c.654T>C	c.(652-654)GAT>GAC	p.D218D	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Silent_p.T10T|PCOTH_uc009zzx.2_Silent_p.T19T|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.D218D	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	218	C1q.					collagen					0						TAATGGGCACATCTGAAGAAG	0.438													G	24465776	A	G	24465776	2	3	257	1	0	0	0	0	0	0	0	1	1971	214	8	3		3	C1QTNF9B	13	24465776	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	556136	24465776	90704102	1232	128164											
C1QTNF9	338872	broad.mit.edu	37	chr13	24895558	24895558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtttccttcttcagaTatgcccattaaatttgataa	5	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:24895558T>C	uc001upj.2	+	4	715	c.654T>C	c.(652-654)GAT>GAC	p.D218D	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	218	C1q.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CTTCTTCAGATATGCCCATTA	0.443													C	24895558	T	C	24895558	2	2	257	1	0	0	0	0	0	0	0	1	1970	1403	49	3		3	C1QTNF9	13	24895558	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	429782	24895558	90274320	1233	128165											
CENPJ	55835	broad.mit.edu	37	chr13	25466978	25466978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttttcaaatcttcccGtaaatctgctatttgctgtt	4	10	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:25466978G>A	uc001upt.3	-	10	3272	c.3019C>T	c.(3019-3021)CGG>TGG	p.R1007W	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.R41W	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1007					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			ovary(2)	2		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)		AAATCTTCCCGTAAATCTGCT	0.348													A	25466978	G	A	25466978	3	1	257	1	0	0	0	0	1	0	0	0	3234	1144	40	1	1029	1	CENPJ	13	25466978	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	571420	25466978	89702900	1234	128166											
MTIF3	219402	broad.mit.edu	37	chr13	28014139	28014139	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacctaccagttttggggttCgccttctccatctccctcag	7	15	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:28014139C>T	uc001urh.2	-	1	1671	c.447G>A	c.(445-447)GCG>GCA	p.A149A	MTIF3_uc001uri.2_Silent_p.A149A|MTIF3_uc001urj.2_Silent_p.A149A|MTIF3_uc001urk.2_Silent_p.A149A	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	149					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			ovary(1)|skin(1)	2		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TTTTGGGGTTCGCCTTCTCCA	0.488													T	28014139	C	T	28014139	2	4	257	1	0	0	0	0	0	0	0	1	9935	871	31	1		1	MTIF3	13	28014139	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2547161	28014139	87155739	1235	128167											
FLT1	2321	broad.mit.edu	37	chr13	28964199	28964199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaggtcctctccttccGtcggcattttttccaagtta	7	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:28964199G>A	uc001usb.3	-	13	1988	c.1703C>T	c.(1702-1704)ACG>ATG	p.T568M	FLT1_uc010aar.1_Missense_Mutation_p.T568M|FLT1_uc001usc.3_Missense_Mutation_p.T568M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.T51M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	568	Ig-like C2-type 6.|Extracellular (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	CTCTCCTTCCGTCGGCATTTT	0.363													A	28964199	G	A	28964199	3	1	257	1	0	0	0	0	1	0	0	0	5941	1145	40	1	2570	1	FLT1	13	28964199	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	950060	28964199	86205679	1236	128168											
MTUS2	23281	broad.mit.edu	37	chr13	30071435	30071435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggacagagcccgccgcttcGaagaggccttgaggaagaac	15	11	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:30071435G>A	uc001usl.3	+	11	3728	c.3670G>A	c.(3670-3672)GAA>AAA	p.E1224K	MTUS2_uc001usm.3_Missense_Mutation_p.E193K|MTUS2_uc010aau.2_Missense_Mutation_p.E103K|MTUS2_uc010tdq.1_5'UTR	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1214	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CCGCCGCTTCGAAGAGGCCTT	0.622													A	30071435	G	A	30071435	3	1	257	1	0	0	0	0	1	0	0	0	9966	1059	37	1	3770	1	MTUS2	13	30071435	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1107236	30071435	85098443	1237	128169											
BRCA2	675	broad.mit.edu	37	chr13	32911322	32911323	+	Frame_Shift_Ins	INS	-	-	A													agcaacccaagtgtcaattaINSaaaaagatttggtttatgtt					rs80359356		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:32911321_32911322T>TA	uc001uub.1	+	10	3056_3057	c.2829_2830T>TA	c.(2827-2832)attaaafs	p.I943fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	943	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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|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)		AAGTGTCAATTAAAAAAGATTT	0.347			"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)			A	32911323	-	A	32911322	7	5	257	1	0	1	1	0	0	0	0	0	1499	363	13	0	2868	0	BRCA2	13	32911322	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2839887	32911322	82258556	1238	128170											
PDS5B	23047	broad.mit.edu	37	chr13	33344286	33344286	+	Frame_Shift_Del	DEL	A	A	-													tggagaagcctagaggcaggAaaaaaacgcccgtcacagaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:33344285_33344285GA>G	uc010abf.3	+	31	3837	c.3651_3651GA>G	c.(3649-3651)aggfs	p.R1217fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1217					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)		CTAGAGGCAGGAAAAAAACGC	0.388													-	33344286	A	-	33344286	7	5	257	1	0	1	0	1	0	0	0	0	11692	247	9	0	3774	0	PDS5B	13	33344286	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	432964	33344286	81825592	1239	128171											
NBEA	26960	broad.mit.edu	37	chr13	36125122	36125122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaaaaagttgtctatagCttgcctcgggttggagtagg	13	5	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36125122C>T	uc001uvb.2	+	43	6965	c.6759C>T	c.(6757-6759)AGC>AGT	p.S2253S	NBEA_uc010abi.2_Silent_p.S909S|NBEA_uc010tee.1_Silent_p.S46S|NBEA_uc010tef.1_Silent_p.S46S|NBEA_uc010teg.1_Silent_p.S46S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2253						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TTGTCTATAGCTTGCCTCGGG	0.373													T	36125122	C	T	36125122	2	4	257	1	0	0	0	0	0	0	0	1	10187	796	28	2		2	NBEA	13	36125122	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2780836	36125122	79044756	1240	128172											
NBEA	26960	broad.mit.edu	37	chr13	36229862	36229862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagtgggcggcaccatAtcataggagacaaccctaac	11	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36229862A>G	uc001uvb.2	+	54	8481	c.8275A>G	c.(8275-8277)ATC>GTC	p.I2759V	NBEA_uc010abi.2_Missense_Mutation_p.I1415V|NBEA_uc010tef.1_Missense_Mutation_p.I552V|NBEA_uc001uvd.2_Missense_Mutation_p.I337V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2759	WD 2.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		GCGGCACCATATCATAGGAGA	0.443													G	36229862	A	G	36229862	3	3	257	1	0	0	0	0	1	0	0	0	10187	449	16	3	8489	3	NBEA	13	36229862	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	104740	36229862	78940016	1241	128173											
DCLK1	9201	broad.mit.edu	37	chr13	36700232	36700232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctctgcgccttatcccGctcgtcgaagtgctccagct	9	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36700232G>A	uc001uvf.2	-	2	276	c.43C>T	c.(43-45)CGG>TGG	p.R15W		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	15					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			stomach(6)|ovary(2)|skin(1)	9		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)		GCCTTATCCCGCTCGTCGAAG	0.597													A	36700232	G	A	36700232	3	1	257	1	0	0	0	0	1	0	0	0	4291	1086	38	1	2214	1	DCLK1	13	36700232	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	470370	36700232	78469646	1242	128174											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909273	+	Frame_Shift_Ins	INS	-	-	A													cctcccctgcaggatttacaINSaaaaaaatctgtactccatt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36909271_36909272C>CA	uc001uvn.3	-	2	966_967	c.696_697G>TG	c.(694-699)tttgtafs	p.F232fs	SPG20_uc010ten.2_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvm.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvo.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvq.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvp.2_Frame_Shift_Ins_p.F232fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	232					cell death	cytoplasm	ubiquitin protein ligase binding	p.F231C(1)		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)		GCAGGATTTACAAAAAAAATCT	0.436													A	36909273	-	A	36909272	7	5	257	1	0	1	1	0	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	209040	36909272	78260606	1243	128175											
FAM48A	55578	broad.mit.edu	37	chr13	37606025	37606025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggatctggaatacctctTgaaacacctgaaatattaag	8	7	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:37606025T>C	uc001uwg.2	-	11	963	c.715A>G	c.(715-717)AAG>GAG	p.K239E	FAM48A_uc010abt.2_Missense_Mutation_p.K240E|FAM48A_uc001uwh.2_Missense_Mutation_p.K240E|FAM48A_uc001uwi.2_Missense_Mutation_p.K239E|FAM48A_uc001uwj.2_Missense_Mutation_p.K240E|FAM48A_uc001uwk.2_Missense_Mutation_p.K239E|FAM48A_uc010tes.1_Missense_Mutation_p.K227E|FAM48A_uc001uwl.1_Missense_Mutation_p.K239E	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	239					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GAATACCTCTTGAAACACCTG	0.353													C	37606025	T	C	37606025	3	2	257	1	0	0	0	0	1	0	0	0	5572	1821	63	3	1688	3	FAM48A	13	37606025	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	696753	37606025	77563853	1244	128176											
ENOX1	55068	broad.mit.edu	37	chr13	43900656	43900656	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaaaacggccacaatctGctcaactttggtgaacaagg	10	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:43900656G>A	uc001uza.3	-	10	1342	c.1042C>T	c.(1042-1044)CAG>TAG	p.Q348*	ENOX1_uc001uzb.3_Nonsense_Mutation_p.Q348*|ENOX1_uc001uzc.3_Nonsense_Mutation_p.Q348*|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Nonsense_Mutation_p.Q161*	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	348					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		GCCACAATCTGCTCAACTTTG	0.423													A	43900656	G	A	43900656	4	1	257	1	0	0	0	0	0	1	0	0	5126	1328	46	2	921	2	ENOX1	13	43900656	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6294631	43900656	71269222	1245	128177											
CAB39L	81617	broad.mit.edu	37	chr13	49918346	49918346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctaagaagtctgctAccaacactttatgtctggtt	7	8	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:49918346A>G	uc001vcw.2	-	6	1091	c.593T>C	c.(592-594)GTA>GCA	p.V198A	CAB39L_uc001vcx.2_Missense_Mutation_p.V198A|CAB39L_uc010adf.2_Missense_Mutation_p.V195A	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	198					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		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)		GAAGTCTGCTACCAACACTTT	0.318													G	49918346	A	G	49918346	3	3	257	1	0	0	0	0	1	0	0	0	2526	391	14	3	436	3	CAB39L	13	49918346	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	6017690	49918346	65251532	1246	128178											
NEK3	4752	broad.mit.edu	37	chr13	52726773	52726773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatctctgtgtagcacacGtttcttgtgaatgtgattta	9	6	2	2	rs138876819	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:52726773G>A	uc001vgi.2	-	5	599	c.364C>T	c.(364-366)CGT>TGT	p.R122C	NEK3_uc001vgg.2_Missense_Mutation_p.R116C|NEK3_uc001vgh.2_Missense_Mutation_p.R143C|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.R122C	NM_152720	NP_689933	P51956	NEK3_HUMAN	NIMA-related kinase 3 isoform a	122	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTAGCACACGTTTCTTGTGA	0.353													A	52726773	G	A	52726773	3	1	257	1	0	0	0	0	1	0	0	0	10325	1145	40	1	1204	1	NEK3	13	52726773	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2808427	52726773	62443105	1247	128179											
THSD1	55901	broad.mit.edu	37	chr13	52952397	52952397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttccaaatctaagggagCgctgggggccgcatcaatgg	14	10	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:52952397C>T	uc001vgo.2	-	5	2253	c.1708G>A	c.(1708-1710)GCT>ACT	p.A570T	THSD1_uc001vgp.2_Missense_Mutation_p.A517T|THSD1_uc010tgz.1_Missense_Mutation_p.A191T|THSD1_uc010aea.2_Missense_Mutation_p.A31T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	570	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		TCTAAGGGAGCGCTGGGGGCC	0.542													T	52952397	C	T	52952397	3	4	257	1	0	0	0	0	1	0	0	0	15874	768	27	1	854	1	THSD1	13	52952397	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	225624	52952397	62217481	1248	128180											
OLFM4	10562	broad.mit.edu	37	chr13	53617325	53617325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgccgagaaatcgtggctcTgaagaccaagctgaaagagt	12	9	1	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:53617325T>C	uc001vhl.2	+	4	656	c.656T>C	c.(655-657)CTG>CCG	p.L219P	OLFM4_uc001vhk.1_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	219	Potential.				cell adhesion	extracellular space				skin(1)	1		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)		ATCGTGGCTCTGAAGACCAAG	0.443													C	53617325	T	C	53617325	3	2	257	1	0	0	0	0	1	0	0	0	10855	1580	55	3	670	3	OLFM4	13	53617325	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	664928	53617325	61552553	1249	128181											
PCDH17	27253	broad.mit.edu	37	chr13	58208476	58208476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggagctgcaggtgccgcGcaacgctggcctgggctatc	16	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:58208476G>A	uc001vhq.1	+	1	2688	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	PCDH17_uc010aec.1_Missense_Mutation_p.R599H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	599	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGGTGCCGCGCAACGCTGGC	0.647													A	58208476	G	A	58208476	3	1	257	1	0	0	0	0	1	0	0	0	11512	1087	38	1	1798	1	PCDH17	13	58208476	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4591151	58208476	56961402	1250	128182											
FBXL3	26224	broad.mit.edu	37	chr13	77592810	77592810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagcaattcacaagttgCgatagtatatcacaagctgc	8	8	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:77592810C>T	uc001vkd.2	-	3	767	c.396G>A	c.(394-396)TCG>TCA	p.S132S		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	132	LRR 1.				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				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCACAAGTTGCGATAGTATAT	0.333													T	77592810	C	T	77592810	2	4	257	1	0	0	0	0	0	0	0	1	5720	755	27	1		1	FBXL3	13	77592810	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	19384334	77592810	37577068	1251	128183											
MYCBP2	23077	broad.mit.edu	37	chr13	77625209	77625209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgacaagcattacaaaaaTgtgttgttccaaaacagaaa	6	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:77625209T>C	uc001vkf.2	-	83	13821	c.13730A>G	c.(13729-13731)CAT>CGT	p.H4577R	MYCBP2_uc010aev.2_Missense_Mutation_p.H3981R|MYCBP2_uc001vke.2_Missense_Mutation_p.H1194R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4577	B box-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTACAAAAATGTGTTGTTCC	0.353													C	77625209	T	C	77625209	3	2	257	1	0	0	0	0	1	0	0	0	10018	1464	51	3	200	3	MYCBP2	13	77625209	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	32399	77625209	37544669	1252	128184											
MYCBP2	23077	broad.mit.edu	37	chr13	77632536	77632536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactacaggctatcttagcGtattcctgttaaagatgaat	7	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:77632536G>A	uc001vkf.2	-	79	13123	c.13032C>T	c.(13030-13032)TAC>TAT	p.Y4344Y	MYCBP2_uc010aev.2_Silent_p.Y3748Y|MYCBP2_uc001vke.2_Silent_p.Y961Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTATCTTAGCGTATTCCTGTT	0.388													A	77632536	G	A	77632536	2	1	257	1	0	0	0	0	0	0	0	1	10018	1140	40	1		1	MYCBP2	13	77632536	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7327	77632536	37537342	1253	128185											
SLITRK1	114798	broad.mit.edu	37	chr13	84455408	84455408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgcattataaaagttagCgaactcattagggaaaagtc	8	7	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:84455408C>T	uc001vlk.2	-	1	1121	c.235G>A	c.(235-237)GCT>ACT	p.A79T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	79	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAAAAGTTAGCGAACTCATTA	0.478													T	84455408	C	T	84455408	3	4	257	1	0	0	0	0	1	0	0	0	14742	768	27	1	1859	1	SLITRK1	13	84455408	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6822872	84455408	30714470	1254	128186											
SLITRK5	26050	broad.mit.edu	37	chr13	88330378	88330378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggggacagcaggctacGggaaccggtgctctacagcc	16	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:88330378G>A	uc001vln.2	+	2	2954	c.2735G>A	c.(2734-2736)CGG>CAG	p.R912Q	SLITRK5_uc010tic.1_Missense_Mutation_p.R671Q	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	912	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGCAGGCTACGGGAACCGGTG	0.557													A	88330378	G	A	88330378	3	1	257	1	0	0	0	0	1	0	0	0	14746	1116	39	1	2737	1	SLITRK5	13	88330378	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3874970	88330378	26839500	1255	128187											
DZIP1	22873	broad.mit.edu	37	chr13	96241464	96241464	+	Splice_Site	DEL	A	A	-													atgacatttttcttaattctAaaaaaacaacagaaaaatat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:96241463_96241463TA>T	uc001vmk.3	-	19	2826	c.1974_splice	c.e19-1	p.K658_splice	DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	658					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)			TTCTTAATTCTAAAAAAACAA	0.279													-	96241464	A	-	96241464	8	5	257	1	0	1	0	1	0	0	1	0	4863	377	13	0		0	DZIP1	13	96241464	Splice_Site	DEL	A	TCGA-HU-8602-01A-11D-2394-08	7911086	96241464	18928414	1256	128188											
TMTC4	84899	broad.mit.edu	37	chr13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggggaggtagaggacaCgctctgcgaccacgaagccc	15	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:101287360C>T	uc001vou.2	-	10	1395	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	TMTC4_uc001vot.2_Missense_Mutation_p.R431H|TMTC4_uc010tja.1_Missense_Mutation_p.R301H|TMTC4_uc001vov.1_Missense_Mutation_p.R157H|TMTC4_uc001vow.1_Missense_Mutation_p.R195H	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	412						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527													T	101287360	C	T	101287360	3	4	257	1	0	0	0	0	1	0	0	0	16260	536	19	1	1026	1	TMTC4	13	101287360	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5045896	101287360	13882518	1257	128189											
MYO16	23026	broad.mit.edu	37	chr13	109793696	109793696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgcttcggaaatccgcGgcgggaagaaaaatcaggga	15	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:109793696G>A	uc001vqt.1	+	32	5196	c.5070G>A	c.(5068-5070)GCG>GCA	p.A1690A	MYO16_uc010agk.1_Silent_p.A1712A	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1690					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			GGAAATCCGCGGCGGGAAGAA	0.622													A	109793696	G	A	109793696	2	1	257	1	0	0	0	0	0	0	0	1	10064	1103	39	1		1	MYO16	13	109793696	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	8506336	109793696	5376182	1258	128190											
COL4A1	1282	broad.mit.edu	37	chr13	110804806	110804806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcctccaggcaggagccGggggacgccagggcttggcc	16	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:110804806G>A	uc001vqw.3	-	51	4925	c.4803C>T	c.(4801-4803)CCC>CCT	p.P1601P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1601	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			GGCAGGAGCCGGGGGACGCCA	0.602													A	110804806	G	A	110804806	2	1	257	1	0	0	0	0	0	0	0	1	3689	1103	39	1		1	COL4A1	13	110804806	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1011110	110804806	4365072	1259	128191											
F7	2155	broad.mit.edu	37	chr13	113771113	113771114	+	Frame_Shift_Ins	INS	-	-	A													ggaaaaatacctattctagaINSaaaaagaaatgccagcaaac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113771112_113771113G>GA	uc001vsv.3	+	6	655_656	c.604_605G>GA	c.(604-606)gaafs	p.E202fs	F7_uc010agp.1_Frame_Shift_Ins_p.E195fs|F7_uc001vsw.3_Frame_Shift_Ins_p.E180fs|F7_uc010tjt.2_Frame_Shift_Ins_p.E133fs	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	202					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	Golgi lumen|endoplasmic reticulum 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)	ACCTATTCTAGAAAAAAGAAAT	0.47													A	113771114	-	A	113771113	7	5	257	1	0	1	1	0	0	0	0	0	5349	246	9	0	631	0	F7	13	113771113	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2966307	113771113	1398765	1260	128192											
PCID2	55795	broad.mit.edu	37	chr13	113850525	113850525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgtgggcctggaatgctCgcaagaatgatgtactgtat	12	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113850525C>T	uc010tju.1	-	5	359	c.278G>A	c.(277-279)CGA>CAA	p.R93Q	PCID2_uc010tjv.1_Missense_Mutation_p.R93Q|PCID2_uc010tjw.1_Missense_Mutation_p.R93Q|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	93					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTGGAATGCTCGCAAGAATGA	0.323													T	113850525	C	T	113850525	3	4	257	1	0	0	0	0	1	0	0	0	11579	884	31	1	961	1	PCID2	13	113850525	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	79412	113850525	1319353	1261	128193											
CUL4A	8451	broad.mit.edu	37	chr13	113900295	113900295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaatcagagtgactcagGccctatagacctcacagtga	10	11	3	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113900295G>A	uc010tjy.1	+	16	1567	c.1556G>A	c.(1555-1557)GGC>GAC	p.G519D	CUL4A_uc010tjx.1_Missense_Mutation_p.G419D|CUL4A_uc010agu.2_Missense_Mutation_p.G380D|CUL4A_uc010tjz.1_Missense_Mutation_p.G198D	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	519					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			central_nervous_system(2)|skin(1)	3	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)			AGTGACTCAGGCCCTATAGAC	0.398													A	113900295	G	A	113900295	3	1	257	1	0	0	0	0	1	0	0	0	4057	1203	42	2	1614	2	CUL4A	13	113900295	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	49770	113900295	1269583	1262	128194											
GRTP1	79774	broad.mit.edu	37	chr13	113978839	113978839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgggccctgcagctctcGcggagcttggcgacggtggc	17	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113978839G>A	uc001vtn.2	-	8	1072	c.975C>T	c.(973-975)CGC>CGT	p.R325R		NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	325						intracellular	Rab GTPase activator activity				0	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)			TGCAGCTCTCGCGGAGCTTGG	0.542													A	113978839	G	A	113978839	2	1	257	1	0	0	0	0	0	0	0	1	6810	1074	38	1		1	GRTP1	13	113978839	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	78544	113978839	1191039	1263	128195											
OR4K5	79317	broad.mit.edu	37	chr14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-													gacctaatgtagtagacagcTttttttgtgatcttcctcga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					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)		TAGTAGACAGCTTTTTTTGTG	0.418													-	20389294	T	-	20389294	7	5	257	1	0	1	0	1	0	0	0	0	11073	1609	56	0	531	0	OR4K5	14	20389294	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08		20389294	86960246	1264	128196											
OSGEP	55644	broad.mit.edu	37	chr14	20915788	20915788	+	Frame_Shift_Del	DEL	A	A	-													ctttacctctcatctgtagcAaaaagccgggctccacgttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:20915787_20915787CA>C	uc001vxf.3	-	8	1281	c.856_856TG>G	c.(856-858)gctfs	p.A286fs		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	286					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	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;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TCATCTGTAGCAAAAAGCCGG	0.433													-	20915788	A	-	20915788	7	5	257	1	0	1	0	1	0	0	0	0	11287	127	5	0	164	0	OSGEP	14	20915788	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	526494	20915788	86433752	1265	128197											
FLJ10357	55701	broad.mit.edu	37	chr14	21550248	21550248	+	Frame_Shift_Del	DEL	C	C	-													cggaccctggggagtaggcaCcccccggatggagcgcaagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:21550248delC	uc001vzp.2	+	14	3250	c.3221delC	c.(3220-3222)ACCfs	p.T1074fs	FLJ10357_uc001vzo.1_Frame_Shift_Del_p.T153fs|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Frame_Shift_Del_p.T360fs	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1074					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GGAGTAGGCACCCCCCGGATG	0.622													-	21550248	C	-	21550248	7	5	257	1	0	1	0	1	0	0	0	0	5926	507	18	0	3275	0	FLJ10357	14	21550248	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	634460	21550248	85799292	1266	128198											
FLJ10357	55701	broad.mit.edu	37	chr14	21557002	21557002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccagagtcatgctcgagCcctgagtgaccccaccacgc	9	19	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:21557002C>T	uc001vzp.2	+	23	4561	c.4532C>T	c.(4531-4533)GCC>GTC	p.A1511V	FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.A749V	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1511					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CATGCTCGAGCCCTGAGTGAC	0.517													T	21557002	C	T	21557002	3	4	257	1	0	0	0	0	1	0	0	0	5926	739	26	2	4622	2	FLJ10357	14	21557002	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6754	21557002	85792538	1267	128199											
ACIN1	22985	broad.mit.edu	37	chr14	23531715	23531715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaactcctttagctggccTaaagtgaaaggacggacctg	10	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23531715T>C	uc001wit.3	-	15	3403	c.3075A>G	c.(3073-3075)TTA>TTG	p.L1025L	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.L267L|ACIN1_uc001wiq.3_Silent_p.L267L|ACIN1_uc001wir.3_Silent_p.L298L|ACIN1_uc001wis.3_Silent_p.L706L|ACIN1_uc010akg.2_Silent_p.L1012L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1025					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTAGCTGGCCTAAAGTGAAAG	0.493													C	23531715	T	C	23531715	2	2	257	1	0	0	0	0	0	0	0	1	142	1519	53	3		3	ACIN1	14	23531715	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1974713	23531715	83817825	1268	128200											
ACIN1	22985	broad.mit.edu	37	chr14	23548926	23548926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagaccgagaacctgaacTgtcaggagagcgagatcttg	13	8	2	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23548926T>C	uc001wit.3	-	6	2120	c.1792A>G	c.(1792-1794)AGT>GGT	p.S598G	ACIN1_uc001wis.3_Missense_Mutation_p.S280G|ACIN1_uc010akg.2_Missense_Mutation_p.S598G|ACIN1_uc010tnj.1_Missense_Mutation_p.S558G	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	598	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAACCTGAACTGTCAGGAGAG	0.532													C	23548926	T	C	23548926	3	2	257	1	0	0	0	0	1	0	0	0	142	1580	55	3	2436	3	ACIN1	14	23548926	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	17211	23548926	83800614	1269	128201											
SLC22A17	51310	broad.mit.edu	37	chr14	23818484	23818484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagggtgccacttacgcaTcaggtagacacccaggtcaa	13	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23818484T>C	uc001wjl.2	-	3	579	c.523A>G	c.(523-525)ATG>GTG	p.M175V	SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.M175V|SLC22A17_uc010akl.1_Missense_Mutation_p.M175V	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	175					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CACTTACGCATCAGGTAGACA	0.612													C	23818484	T	C	23818484	3	2	257	1	0	0	0	0	1	0	0	0	14448	1435	50	3	1121	3	SLC22A17	14	23818484	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	269558	23818484	83531056	1270	128202											
MYH6	4624	broad.mit.edu	37	chr14	23858084	23858084	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcacttggcctcttcgagctCctcagtccgctgaatggcgt	10	14	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23858084C>A	uc001wjv.2	-	29	4226	c.4159G>T	c.(4159-4161)GAG>TAG	p.E1387*	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1387	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTTCGAGCTCCTCAGTCCGC	0.617													A	23858084	C	A	23858084	4	1	257	1	0	0	0	0	0	1	0	0	10038	864	30	5	1704	5	MYH6	14	23858084	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	39600	23858084	83491456	1271	128203											
LRRC16B	90668	broad.mit.edu	37	chr14	24529859	24529859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcagcggctgtgtggacGagtgcaggaggaggtgcggg	22	7	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:24529859G>A	uc001wlj.2	+	25	2241	c.2084G>A	c.(2083-2085)CGA>CAA	p.R695Q	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	695										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CTGTGTGGACGAGTGCAGGAG	0.607													A	24529859	G	A	24529859	3	1	257	1	0	0	0	0	1	0	0	0	8972	1058	37	1	2182	1	LRRC16B	14	24529859	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	671775	24529859	82819681	1272	128204											
CPNE6	9362	broad.mit.edu	37	chr14	24546502	24546502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacttctctgacatgcGgctgctggatggcgacgacg	14	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:24546502G>A	uc001wll.2	+	15	1538	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q	CPNE6_uc010tnv.1_Missense_Mutation_p.R535Q|CPNE6_uc001wlm.2_Missense_Mutation_p.R305Q|CPNE6_uc001wln.2_Missense_Mutation_p.R148Q	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	480	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		TCTGACATGCGGCTGCTGGAT	0.627													A	24546502	G	A	24546502	3	1	257	1	0	0	0	0	1	0	0	0	3816	1116	39	1	1493	1	CPNE6	14	24546502	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	16643	24546502	82803038	1273	128205											
TM9SF1	10548	broad.mit.edu	37	chr14	24659680	24659680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatgttcttggtgcgacAgggtgcatcaaaggggctgg	18	7	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:24659680A>G	uc001wnb.1	-	5	1681	c.1333T>C	c.(1333-1335)TGT>CGT	p.C445R	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'UTR|TM9SF1_uc010toa.1_Missense_Mutation_p.C358R|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.C680R|TM9SF1_uc001wnc.2_Missense_Mutation_p.C445R	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	445					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		TTGGTGCGACAGGGTGCATCA	0.562													G	24659680	A	G	24659680	3	3	257	1	0	0	0	0	1	0	0	0	15974	188	7	3	538	3	TM9SF1	14	24659680	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	113178	24659680	82689860	1274	128206											
HECTD1	25831	broad.mit.edu	37	chr14	31614149	31614149	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagccatagttcgtaccTaccaaaataaacacaacaaa	4	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:31614149T>C	uc001wrc.1	-	16	2986	c.2497_splice	c.e16-1	p.V833_splice	HECTD1_uc001wrd.1_Splice_Site_p.V348_splice	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		AGTTCGTACCTACCAAAATAA	0.343													C	31614149	T	C	31614149	5	2	257	1	0	0	0	0	0	0	1	0	7039	1536	53	3	5449	3	HECTD1	14	31614149	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	6954469	31614149	75735391	1275	128207											
BRMS1L	84312	broad.mit.edu	37	chr14	36302297	36302297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggaaaatatgcaaattcGtacaaaggtagcaggtagga	11	5	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:36302297G>A	uc001wtl.2	+	3	473	c.347G>A	c.(346-348)CGT>CAT	p.R116H	BRMS1L_uc010tpx.1_Missense_Mutation_p.R68H	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	116					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	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)		ATGCAAATTCGTACAAAGGTA	0.363													A	36302297	G	A	36302297	3	1	257	1	0	0	0	0	1	0	0	0	1517	1145	40	1	357	1	BRMS1L	14	36302297	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4688148	36302297	71047243	1276	128208											
PNN	5411	broad.mit.edu	37	chr14	39650339	39650344	+	In_Frame_Del	DEL	CCTCAG	CCTCAG	-													aacctgagcctgtggctcaaCctcagcctcagtctcagccc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:39650338_39650343ACCTCAG>A	uc001wuw.4	+	8	1522_1527	c.1425_1430ACCTCAG>A	c.(1423-1431)caacctcag>caAg	p.475_477QPQ>Q		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	475	Gln-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)		CTGTGGCTcaacctcagcctcagtct	0.495													-	39650344	CCTCAG	-	39650339	7	5	257	1	0	1	0	1	0	0	0	0	12160	507	18	0	1460	0	PNN	14	39650339	In_Frame_Del	DEL	CCTCAG	TCGA-HU-8602-01A-11D-2394-08	3348042	39650339	67699201	1277	128209											
KLHL28	54813	broad.mit.edu	37	chr14	45414495	45414495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctaagtatttctggcGttcttgtacatcatacttga	8	8	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45414495G>A	uc001wvq.2	-	2	883	c.637C>T	c.(637-639)CGC>TGC	p.R213C	KLHL28_uc001wvr.2_Missense_Mutation_p.R213C|KLHL28_uc001wvt.3_Missense_Mutation_p.R213C	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	213										ovary(1)	1						TATTTCTGGCGTTCTTGTACA	0.353													A	45414495	G	A	45414495	3	1	257	1	0	0	0	0	1	0	0	0	8382	1145	40	1	1094	1	KLHL28	14	45414495	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5764156	45414495	61935045	1278	128210											
FAM179B	23116	broad.mit.edu	37	chr14	45432122	45432122	+	Frame_Shift_Del	DEL	G	G	-													tcggacgttctccggggtcaGggggaggcaggccagcttga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45432121_45432121AG>A	uc001wvw.3	+	0	706	c.497_497AG>A	c.(496-498)cagfs	p.Q166fs	FAM179B_uc001wvv.3_Frame_Shift_Del_p.Q166fs|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Frame_Shift_Del_p.Q166fs|FAM179B_uc001wvu.3_Frame_Shift_Del_p.Q166fs	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	166							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGGGGTCAGGGGGAGGCA	0.557													-	45432122	G	-	45432122	7	5	257	1	0	1	0	1	0	0	0	0	5506	991	35	0	500	0	FAM179B	14	45432122	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	17627	45432122	61917418	1279	128211											
FAM179B	23116	broad.mit.edu	37	chr14	45432458	45432458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatctgagacagctttctcCgcacttcaacaaattgggga	9	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45432458C>T	uc001wvv.2	+	1	1043	c.834C>T	c.(832-834)TCC>TCT	p.S278S	FAM179B_uc001wvw.2_Silent_p.S278S|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.S278S|FAM179B_uc001wvu.2_Silent_p.S278S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	278							binding			skin(2)|upper_aerodigestive_tract(1)	3						CAGCTTTCTCCGCACTTCAAC	0.507													T	45432458	C	T	45432458	2	4	257	1	0	0	0	0	0	0	0	1	5506	639	23	1		1	FAM179B	14	45432458	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	336	45432458	61917082	1280	128212											
FANCM	57697	broad.mit.edu	37	chr14	45642325	45642325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagactgtggcaagatcatcCtttgcctacacatcaagttg	9	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45642325C>A	uc001wwd.3	+	13	2327	c.2228C>A	c.(2227-2229)CCT>CAT	p.P743H	FANCM_uc010anf.2_Missense_Mutation_p.P717H|FANCM_uc001wwe.3_Missense_Mutation_p.P279H|FANCM_uc010ang.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	743					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CAAGATCATCCTTTGCCTACA	0.388								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	45642325	C	A	45642325	3	1	257	1	0	0	0	0	1	0	0	0	5671	681	24	5	2278	5	FANCM	14	45642325	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	209867	45642325	61707215	1281	128213											
SOS2	6655	broad.mit.edu	37	chr14	50597471	50597471	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agattttaaggaaaaagttgAtttcctaggctgagaaaagc	10	4	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:50597471A>T	uc001wxs.3	-	20	3183	c.3085T>A	c.(3085-3087)TCA>ACA	p.S1029T	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.S996T	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1029					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			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAAAAAGTTGATTTCCTAGGC	0.378													T	50597471	A	T	50597471	3	4	257	1	0	0	0	0	1	0	0	0	14937	333	12	5	929	5	SOS2	14	50597471	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	4955146	50597471	56752069	1282	128214											
FERMT2	10979	broad.mit.edu	37	chr14	53331480	53331480	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacattgtcacaacgaagCcagatttcattcatgccttc	5	12	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:53331480C>T	uc001xad.2	-	11	1420	c.1365G>A	c.(1363-1365)TGG>TGA	p.W455*	FERMT2_uc001xac.2_Nonsense_Mutation_p.W455*|FERMT2_uc001xae.2_Nonsense_Mutation_p.W455*|FERMT2_uc001xaf.2_Nonsense_Mutation_p.W455*	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	455	FERM.|PH.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CACAACGAAGCCAGATTTCAT	0.348													T	53331480	C	T	53331480	4	4	257	1	0	0	0	0	0	1	0	0	5818	740	26	2	734	2	FERMT2	14	53331480	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2734009	53331480	54018060	1283	128215											
C14orf105	55195	broad.mit.edu	37	chr14	57949848	57949848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaagtaattactcgtgGcaagtcaatgggttcaagct	10	8	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:57949848G>A	uc001xcy.2	-	3	471	c.328C>T	c.(328-330)CCA>TCA	p.P110S	C14orf105_uc010trl.1_Missense_Mutation_p.P110S|C14orf105_uc010trm.1_Missense_Mutation_p.P22S|C14orf105_uc010trn.1_Missense_Mutation_p.P22S|C14orf105_uc001xcz.2_Missense_Mutation_p.P110S|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.P32S	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	110											0						ATTACTCGTGGCAAGTCAATG	0.458													A	57949848	G	A	57949848	3	1	257	1	0	0	0	0	1	0	0	0	1737	1203	42	2	578	2	C14orf105	14	57949848	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4618368	57949848	49399692	1284	128216											
C14orf149	112849	broad.mit.edu	37	chr14	59946072	59946072	+	Splice_Site	DEL	A	A	-													gaacatccaccatgagatctAaaaaaaagatgtgtttggaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333													-	59946072	A	-	59946072	8	5	257	1	0	1	0	1	0	0	1	0	1752	377	13	0		0	C14orf149	14	59946072	Splice_Site	DEL	A	TCGA-HU-8602-01A-11D-2394-08	1996224	59946072	47403468	1285	128217											
SYT16	83851	broad.mit.edu	37	chr14	62567321	62567321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgattggctggattgccCtgggccagaacagcagtgga	15	8	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:62567321C>A	uc001xfu.1	+	6	2031	c.1834C>A	c.(1834-1836)CTG>ATG	p.L612M	SYT16_uc010tse.1_Missense_Mutation_p.L170M	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	612										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTGGATTGCCCTGGGCCAGAA	0.498													A	62567321	C	A	62567321	3	1	257	1	0	0	0	0	1	0	0	0	15469	680	24	5	1856	5	SYT16	14	62567321	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2621249	62567321	44782219	1286	128218											
PPP2R5E	5529	broad.mit.edu	37	chr14	63851209	63851209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggctggaaaacatgatGggaaggatgacgttagagtt	14	3	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:63851209G>A	uc001xgd.1	-	12	1745	c.1155C>T	c.(1153-1155)CCC>CCT	p.P385P	PPP2R5E_uc010tsf.1_Silent_p.P309P|PPP2R5E_uc010tsg.1_Silent_p.P309P|PPP2R5E_uc001xge.2_Silent_p.P385P|PPP2R5E_uc010tsh.1_Silent_p.P385P|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	385					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AAAACATGATGGGAAGGATGA	0.368													A	63851209	G	A	63851209	2	1	257	1	0	0	0	0	0	0	0	1	12396	1335	47	4		4	PPP2R5E	14	63851209	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1283888	63851209	43498331	1287	128219											
MTHFD1	4522	broad.mit.edu	37	chr14	64896929	64896929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggcggctactcccAggtcattcctatggaagagg	14	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:64896929A>G	uc001xhb.2	+	13	1679	c.1292A>G	c.(1291-1293)CAG>CGG	p.Q431R	MTHFD1_uc010aqe.2_Missense_Mutation_p.Q467R|MTHFD1_uc010aqf.2_Missense_Mutation_p.Q487R	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	431	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 (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				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)	GGCTACTCCCAGGTCATTCCT	0.478											OREG0022729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	64896929	A	G	64896929	3	3	257	1	0	0	0	0	1	0	0	0	9927	188	7	3	1342	3	MTHFD1	14	64896929	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1045720	64896929	42452611	1288	128220											
SPTB	6710	broad.mit.edu	37	chr14	65289773	65289773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatcctgctgtaaggtgGctggttgcccacattttcaa	10	9	1	1	rs147059670	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:65289773G>A	uc001xht.2	-	1	94	c.40C>T	c.(40-42)CCA>TCA	p.P14S	SPTB_uc001xhr.2_Missense_Mutation_p.P14S|SPTB_uc001xhs.2_Missense_Mutation_p.P14S|SPTB_uc001xhu.2_Missense_Mutation_p.P14S	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	14	Actin-binding.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		CTGTAAGGTGGCTGGTTGCCC	0.572											OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65289773	G	A	65289773	3	1	257	1	0	0	0	0	1	0	0	0	15117	1203	42	2	7155	2	SPTB	14	65289773	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	392844	65289773	42059767	1289	128221											
ARG2	384	broad.mit.edu	37	chr14	68113365	68113365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctccctttcataggtacCacaactcccaggattttcct	4	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:68113365C>A	uc001xjs.2	+	5	643	c.527C>A	c.(526-528)CCA>CAA	p.P176Q		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	176					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				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)	TCATAGGTACCACAACTCCCA	0.423													A	68113365	C	A	68113365	3	1	257	1	0	0	0	0	1	0	0	0	858	594	21	5	545	5	ARG2	14	68113365	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2823592	68113365	39236175	1290	128222											
PNMA1	9240	broad.mit.edu	37	chr14	74180118	74180118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctccctggggatcgcGgcgtaatctacagcgccagt	13	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:74180118G>A	uc001xor.1	-	1	1011	c.225C>T	c.(223-225)GCC>GCT	p.A75A		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	75					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tggggatcgcggcgtaatcta	0													A	74180118	G	A	74180118	2	1	257	1	0	0	0	0	0	0	0	1	12153	1103	39	1		1	PNMA1	14	74180118	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6066753	74180118	33169422	1291	128223											
C14orf43	91748	broad.mit.edu	37	chr14	74206606	74206606	+	Frame_Shift_Del	DEL	G	G	-													cttcactctgatggactgctGggggggctgcaggggagggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:74206605_74206605TG>T	uc010tud.1	-	0	354	c.107_107CA>A	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTG	0.667													-	74206606	G	-	74206606	7	5	257	1	0	1	0	1	0	0	0	0	1774	1357	47	0	3075	0	C14orf43	14	74206606	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	26488	74206606	33142934	1292	128224											
LTBP2	4053	broad.mit.edu	37	chr14	74975348	74975348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgctgacgaagccaggcGcgcacagacagaagaaagac	13	12	0	5	rs45468895	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:74975348G>A	uc001xqa.2	-	24	3998	c.3611C>T	c.(3610-3612)GCG>GTG	p.A1204V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1204	Cys-rich.|EGF-like 12; 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			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GAAGCCAGGCGCGCACAGACA	0.622													A	74975348	G	A	74975348	3	1	257	1	0	0	0	0	1	0	0	0	9074	1087	38	1	1906	1	LTBP2	14	74975348	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	768742	74975348	32374192	1293	128225											
LTBP2	4053	broad.mit.edu	37	chr14	75019032	75019032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcccggtggagttggcGgggcaccagcattcgtccct	13	13	0	0	rs150977144		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:75019032G>A	uc001xqa.2	-	6	1644	c.1257C>T	c.(1255-1257)CCC>CCT	p.P419P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	419	EGF-like 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGAGTTGGCGGGGCACCAGC	0.657													A	75019032	G	A	75019032	2	1	257	1	0	0	0	0	0	0	0	1	9074	1103	39	1		1	LTBP2	14	75019032	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	43684	75019032	32330508	1294	128226											
C14orf148	122945	broad.mit.edu	37	chr14	77873148	77873148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttattggccccccagaCgctgacagaatcttcatcat	6	15	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:77873148C>T	uc001xtr.2	-	4	748	c.601G>A	c.(601-603)GTC>ATC	p.V201I	C14orf148_uc010tvi.1_Missense_Mutation_p.V201I	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	201					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GCCCCCCAGACGCTGACAGAA	0.488													T	77873148	C	T	77873148	3	4	257	1	0	0	0	0	1	0	0	0	1751	536	19	1	559	1	C14orf148	14	77873148	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2854116	77873148	29476392	1295	128227											
VIPAR	63894	broad.mit.edu	37	chr14	77917640	77917640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcgtgggttgagccgCtattaccagcagtctctctg	11	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:77917640C>T	uc001xtt.1	-	5	571	c.233G>A	c.(232-234)AGC>AAC	p.S78N	VIPAR_uc001xtu.1_Missense_Mutation_p.S78N|VIPAR_uc010tvj.1_Intron|VIPAR_uc001xtv.1_Missense_Mutation_p.S78N	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	78					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						GGTTGAGCCGCTATTACCAGC	0.483													T	77917640	C	T	77917640	3	4	257	1	0	0	0	0	1	0	0	0	17165	797	28	2	1316	2	VIPAR	14	77917640	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	44492	77917640	29431900	1296	128228											
ALKBH1	8846	broad.mit.edu	37	chr14	78174225	78174225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgagaagtcgatgaccccTtccaggtctgcggtcccggg	14	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:78174225T>G	uc001xuc.1	-	1	132	c.123A>C	c.(121-123)GAA>GAC	p.E41D	ALKBH1_uc001xud.1_RNA|C14orf156_uc001xue.3_5'Flank	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	41					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGATGACCCCTTCCAGGTCTG	0.652											OREG0022840	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	78174225	T	G	78174225	3	3	257	1	0	0	0	0	1	0	0	0	526	1606	56	5	1070	5	ALKBH1	14	78174225	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	256585	78174225	29175315	1297	128229											
ADCK1	57143	broad.mit.edu	37	chr14	78325507	78325507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccagcacctgggggctcTggactacctgttgccagagg	16	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:78325507T>C	uc001xui.2	+	4	407	c.308T>C	c.(307-309)CTG>CCG	p.L103P	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	110						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CTGGGGGCTCTGGACTACCTG	0.612													C	78325507	T	C	78325507	3	2	257	1	0	0	0	0	1	0	0	0	288	1580	55	3	318	3	ADCK1	14	78325507	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	151282	78325507	29024033	1298	128230											
NRXN3	9369	broad.mit.edu	37	chr14	78709917	78709917	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacatacgaccttctgccCtgacccttgatggagttcag	9	13	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:78709917C>A	uc001xum.1	+	2		c.1274C>A						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCTTCTGCCCTGACCCTTGA	0.592													A	78709917	C	A	78709917	1	1	257	0	1	0	0	0	0	0	0	0	10667	696	24	5		5	NRXN3	14	78709917	RNA	SNP	C	TCGA-HU-8602-01A-11D-2394-08	384410	78709917	28639623	1299	128231											
NRXN3	9369	broad.mit.edu	37	chr14	79181418	79181418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataatgctgtgtgcaaggaCggctggaaccgcttcatctg	12	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:79181418C>T	uc001xun.2	+	5	1352	c.861C>T	c.(859-861)GAC>GAT	p.D287D	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.D421D	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	660	EGF-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTGCAAGGACGGCTGGAACC	0.577													T	79181418	C	T	79181418	2	4	257	1	0	0	0	0	0	0	0	1	10667	535	19	1		1	NRXN3	14	79181418	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	471501	79181418	28168122	1300	128232											
FLRT2	23768	broad.mit.edu	37	chr14	86088697	86088697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgcgtaagctggaacGgctggatatatccaacaacc	9	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:86088697G>A	uc001xvr.2	+	2	1606	c.839G>A	c.(838-840)CGG>CAG	p.R280Q	FLRT2_uc010atd.2_Missense_Mutation_p.R280Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGCTGGAACGGCTGGATATA	0.483													A	86088697	G	A	86088697	3	1	257	1	0	0	0	0	1	0	0	0	5939	1116	39	1	841	1	FLRT2	14	86088697	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6907279	86088697	21260843	1301	128233											
KCNK10	54207	broad.mit.edu	37	chr14	88652342	88652342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtccagtgagtgggccCgctggtccaggcccagccgc	15	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:88652342C>T	uc001xwo.2	-	7	1611	c.1154G>A	c.(1153-1155)CGG>CAG	p.R385Q	KCNK10_uc001xwm.2_Missense_Mutation_p.R390Q|KCNK10_uc001xwn.2_Missense_Mutation_p.R390Q	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	385	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						TGAGTGGGCCCGCTGGTCCAG	0.667													T	88652342	C	T	88652342	3	4	257	1	0	0	0	0	1	0	0	0	8059	652	23	1	466	1	KCNK10	14	88652342	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2563645	88652342	18697198	1302	128234											
CALM1	801	broad.mit.edu	37	chr14	90870757	90870757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcagtgcagcagaactacGtcacgtcatgacaaacttag	8	10	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:90870757G>A	uc001xyl.1	+	5	522	c.320G>A	c.(319-321)CGT>CAT	p.R107H	CALM1_uc010atq.1_Missense_Mutation_p.R108H|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.R71H	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	107	EF-hand 3.				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			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	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)	GCAGAACTACGTCACGTCATG	0.393													A	90870757	G	A	90870757	3	1	257	1	0	0	0	0	1	0	0	0	2584	1145	40	1	338	1	CALM1	14	90870757	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2218415	90870757	16478783	1303	128235											
RPS6KA5	9252	broad.mit.edu	37	chr14	91338514	91338514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgggtgtagttttaccGtgagaatgagaggaagaaga	16	2	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:91338514G>A	uc001xys.2	-	17	2528	c.2313C>T	c.(2311-2313)CAC>CAT	p.H771H	RPS6KA5_uc010twi.1_Silent_p.H692H	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	771					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			ovary(1)	1		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)		TAGTTTTACCGTGAGAATGAG	0.507													A	91338514	G	A	91338514	2	1	257	1	0	0	0	0	0	0	0	1	13654	1136	40	1		1	RPS6KA5	14	91338514	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	467757	91338514	16011026	1304	128236											
GOLGA5	9950	broad.mit.edu	37	chr14	93275769	93275769	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggctgcaaaggattcCcagctggctgtactgaaagt	13	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:93275769C>A	uc001yaz.1	+	4	1079	c.897C>A	c.(895-897)TCC>TCA	p.S299S		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	299	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CAAAGGATTCCCAGCTGGCTG	0.488			T	RET	papillary thyroid								A	93275769	C	A	93275769	2	1	257	1	0	0	0	0	0	0	0	1	6556	610	22	5		5	GOLGA5	14	93275769	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1937255	93275769	14073771	1305	128237											
BTBD7	55727	broad.mit.edu	37	chr14	93712224	93712224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctgttgaggtggtggTggcggcagcagcagccaccg	18	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:93712224T>C	uc001ybo.2	-	10	2856	c.2530A>G	c.(2530-2532)ACC>GCC	p.T844A	BTBD7_uc010aur.2_Missense_Mutation_p.T369A|BTBD7_uc010two.1_Missense_Mutation_p.T664A|BTBD7_uc001ybp.2_Missense_Mutation_p.T493A	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	844										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		gAGGTGGTGGTGGCGGCAGCA	0.468													C	93712224	T	C	93712224	3	2	257	1	0	0	0	0	1	0	0	0	1546	1696	59	3	876	3	BTBD7	14	93712224	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	436455	93712224	13637316	1306	128238											
KIAA1409	57578	broad.mit.edu	37	chr14	94007031	94007031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagaagccgagttccatGctgagcagcgagaacatgag	13	8	0	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:94007031G>A	uc001ybv.1	+	10	930	c.847G>A	c.(847-849)GCT>ACT	p.A283T	KIAA1409_uc001ybs.1_Missense_Mutation_p.A283T|KIAA1409_uc001ybu.1_Missense_Mutation_p.A221T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	460						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CGAGTTCCATGCTGAGCAGCG	0.488													A	94007031	G	A	94007031	3	1	257	1	0	0	0	0	1	0	0	0	8230	1319	46	2	885	2	KIAA1409	14	94007031	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	294807	94007031	13342509	1307	128239											
BCL11B	64919	broad.mit.edu	37	chr14	99642456	99642456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccgtgcgtgttctgcgcGtgctgcagcaggaaccacgc	14	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:99642456G>A	uc001yga.2	-	4	984	c.717C>T	c.(715-717)CAC>CAT	p.H239H	BCL11B_uc001ygb.2_Silent_p.H168H	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	239	C2H2-type 1.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTTCTGCGCGTGCTGCAGCA	0.647			T	TLX3	T-ALL								A	99642456	G	A	99642456	2	1	257	1	0	0	0	0	0	0	0	1	1364	1136	40	1		1	BCL11B	14	99642456	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5635425	99642456	7707084	1308	128240											
C14orf68	283600	broad.mit.edu	37	chr14	100795815	100795815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgggcagggccagaggCgctaccggggtctcctgcac	16	14	1	2	rs143013015		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:100795815C>T	uc001yhc.2	+	6	833	c.760C>T	c.(760-762)CGC>TGC	p.R254C	C14orf68_uc001yhd.2_Missense_Mutation_p.R108C	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	254	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GGGCCAGAGGCGCTACCGGGG	0.667													T	100795815	C	T	100795815	3	4	257	1	0	0	0	0	1	0	0	0	1778	768	27	1	782	1	C14orf68	14	100795815	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1153359	100795815	6553725	1309	128241											
WDR25	79446	broad.mit.edu	37	chr14	100996336	100996336	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgtgctgccctccgtcctCgccacctgctcctggggagg	12	19	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:100996336C>T	uc010avx.2	+	7	1686	c.1593C>T	c.(1591-1593)CTC>CTT	p.L531L	WDR25_uc001yhm.2_Silent_p.L523L|WDR25_uc001yhn.2_Silent_p.L531L|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Silent_p.L274L	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	531	WD 7.										0		Melanoma(154;0.212)				CCTCCGTCCTCGCCACCTGCT	0.617													T	100996336	C	T	100996336	2	4	257	1	0	0	0	0	0	0	0	1	17279	871	31	1		1	WDR25	14	100996336	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	200521	100996336	6353204	1310	128242											
BEGAIN	57596	broad.mit.edu	37	chr14	101004698	101004698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgtagagcgggctggCgcggccgtcggccttcttgc	18	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:101004698C>T	uc010txa.1	-	6	1536	c.1390G>A	c.(1390-1392)GCC>ACC	p.A464T	BEGAIN_uc001yhp.2_Missense_Mutation_p.A400T|BEGAIN_uc001yhq.2_Missense_Mutation_p.A464T	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	464						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				AGCGGGCTGGCGCGGCCGTCG	0.736													T	101004698	C	T	101004698	3	4	257	1	0	0	0	0	1	0	0	0	1397	768	27	1	395	1	BEGAIN	14	101004698	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8362	101004698	6344842	1311	128243											
DLK1	8788	broad.mit.edu	37	chr14	101198519	101198519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggccctgtgtgatcaacGggtaaatatccttcctgtgt	11	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:101198519G>A	uc001yhs.3	+	4	556	c.403G>A	c.(403-405)GGC>AGC	p.G135S	DLK1_uc001yhu.3_Missense_Mutation_p.G135S	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	135	Extracellular (Potential).|EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				TGTGATCAACGGGTAAATATC	0.542													A	101198519	G	A	101198519	3	1	257	1	0	0	0	0	1	0	0	0	4564	1130	39	1	417	1	DLK1	14	101198519	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	193821	101198519	6151021	1312	128244											
WDR20	91833	broad.mit.edu	37	chr14	102675067	102675068	+	Frame_Shift_Ins	INS	-	-	C													cacacttgtggcaccacagcINScccccactaccagcttctga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:102675066_102675067G>GC	uc010txu.2	+	3	724_725	c.652_653G>GC	c.(652-654)gccfs	p.A218fs	WDR20_uc001ylf.3_Frame_Shift_Ins_p.A199fs|WDR20_uc001ykz.3_Frame_Shift_Ins_p.A187fs|WDR20_uc001yky.2_Intron|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Frame_Shift_Ins_p.A126fs|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Frame_Shift_Ins_p.A126fs|WDR20_uc001yld.3_Frame_Shift_Ins_p.A187fs	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	187										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGGCACCACAGCCCCCCACTAC	0.54													C	102675068	-	C	102675067	7	5	257	1	0	1	1	0	0	0	0	0	17277	739	26	0	587	0	WDR20	14	102675067	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1476548	102675067	4674473	1313	128245											
RCOR1	23186	broad.mit.edu	37	chr14	103148247	103148247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagccaaactggcaagacGcagtcaagaacgggacaatc	10	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:103148247G>A	uc001ymb.2	+	3	368	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	123	Interaction with HDAC1.|ELM2.				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			ovary(1)	1						CTGGCAAGACGCAGTCAAGAA	0.358													A	103148247	G	A	103148247	3	1	257	1	0	0	0	0	1	0	0	0	13182	1087	38	1	378	1	RCOR1	14	103148247	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	473180	103148247	4201293	1314	128246											
INF2	64423	broad.mit.edu	37	chr14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-													ctactgccctgcacctgcagCccccccgtggcgggaggcat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		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)		GCACCTGCAGCCCCCCCGTGG	0.562													-	105174185	C	-	105174185	7	5	257	1	0	1	0	1	0	0	0	0	7734	738	26	0	1611	0	INF2	14	105174185	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	2025938	105174185	2175355	1315	128247											
AHNAK2	113146	broad.mit.edu	37	chr14	105406225	105406225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgggcattttaaaccagCtttcctgcgagtacttggtc	9	10	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:105406225C>T	uc010axc.1	-	7	15683	c.15563G>A	c.(15562-15564)AGC>AAC	p.S5188N	AHNAK2_uc001ypx.2_Missense_Mutation_p.S5088N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5188						nucleus				ovary(1)	1		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)			TTTAAACCAGCTTTCCTGCGA	0.562													T	105406225	C	T	105406225	3	4	257	1	0	0	0	0	1	0	0	0	415	797	28	2	1828	2	AHNAK2	14	105406225	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	232040	105406225	1943315	1316	128248											
BRF1	2972	broad.mit.edu	37	chr14	105688094	105688094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggccggaggtctgccGccccactcggggcttcctgc	14	18	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:105688094G>A	uc001yqp.2	-	11	1569	c.1206C>T	c.(1204-1206)GGC>GGT	p.G402G	BRF1_uc010tyo.1_Silent_p.G287G|BRF1_uc010typ.1_Silent_p.G287G|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.G198G|BRF1_uc001yqo.2_Silent_p.G164G|BRF1_uc010axg.1_Silent_p.G375G|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	402					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			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		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)		GAGGTCTGCCGCCCCACTCGG	0.667													A	105688094	G	A	105688094	2	1	257	1	0	0	0	0	0	0	0	1	1510	1074	38	1		1	BRF1	14	105688094	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	281869	105688094	1661446	1317	128249											
NDN	4692	broad.mit.edu	37	chr15	23932203	23932203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctggggaggcggcgcGgcctgcggagcggccgtcgg	24	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:23932203G>A	uc001ywk.2	-	1	248	c.162C>T	c.(160-162)GCC>GCT	p.A54A		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	54					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		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)		GAGGCGGCGCGGCCTGCGGAG	0.771									Prader-Willi_syndrome				A	23932203	G	A	23932203	2	1	257	1	0	0	0	0	0	0	0	1	10247	1103	39	1		1	NDN	15	23932203	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08		23932203	78599189	1318	128250											
HERC2	8924	broad.mit.edu	37	chr15	28420752	28420752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaccacctgtggtttcCgcacgtgcacgtcagagccg	10	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:28420752C>T	uc001zbj.2	-	64	9843	c.9737G>A	c.(9736-9738)CGG>CAG	p.R3246Q		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3246	RCC1 11.				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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CTGTGGTTTCCGCACGTGCAC	0.592													T	28420752	C	T	28420752	3	4	257	1	0	0	0	0	1	0	0	0	7058	652	23	1	4887	1	HERC2	15	28420752	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4488549	28420752	74110640	1319	128251											
HERC2	8924	broad.mit.edu	37	chr15	28518100	28518100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccaagtgctggtccTgcagggggatgcttcctggc	16	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:28518100T>C	uc001zbj.2	-	8	957	c.851A>G	c.(850-852)CAG>CGG	p.Q284R	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	284					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		GTGCTGGTCCTGCAGGGGGAT	0.612													C	28518100	T	C	28518100	3	2	257	1	0	0	0	0	1	0	0	0	7058	1580	55	3	13997	3	HERC2	15	28518100	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	97348	28518100	74013292	1320	128252											
APBA2	321	broad.mit.edu	37	chr15	29385352	29385352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacctggggtccacccagCtgctatcagaacggaaccct	9	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:29385352C>T	uc001zck.2	+	6	1351	c.1144C>T	c.(1144-1146)CTG>TTG	p.L382L	APBA2_uc010azj.2_Silent_p.L382L|APBA2_uc010uat.1_Silent_p.L382L|APBA2_uc001zcl.2_Silent_p.L382L|APBA2_uc001zcm.1_Silent_p.L86L	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	382	PID.				nervous system development|protein transport		protein binding				0		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)		GTCCACCCAGCTGCTATCAGA	0.582													T	29385352	C	T	29385352	2	4	257	1	0	0	0	0	0	0	0	1	757	796	28	2		2	APBA2	15	29385352	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	867252	29385352	73146040	1321	128253											
OTUD7A	161725	broad.mit.edu	37	chr15	31818590	31818590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctgaagtgtgtgcgCggctcgctggaggccagctt	15	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:31818590C>T	uc001zfq.2	-	6	927	c.834G>A	c.(832-834)CCG>CCA	p.P278P	OTUD7A_uc001zfr.2_Silent_p.P285P	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	278	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		AGTGTGTGCGCGGCTCGCTGG	0.667													T	31818590	C	T	31818590	2	4	257	1	0	0	0	0	0	0	0	1	11318	755	27	1		1	OTUD7A	15	31818590	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2433238	31818590	70712802	1322	128254											
RYR3	6263	broad.mit.edu	37	chr15	33954617	33954617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgatgaagaacgagtAcatcatccccattaccagca	8	11	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:33954617A>G	uc001zhi.2	+	35	4956	c.4886A>G	c.(4885-4887)TAC>TGC	p.Y1629C	RYR3_uc010bar.2_Missense_Mutation_p.Y1629C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1629	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		AAGAACGAGTACATCATCCCC	0.562													G	33954617	A	G	33954617	3	3	257	1	0	0	0	0	1	0	0	0	13770	391	14	3	5024	3	RYR3	15	33954617	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2136027	33954617	68576775	1323	128255											
RYR3	6263	broad.mit.edu	37	chr15	34042195	34042195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagggaatggtggaggtcGtggctgagaactatcacaat	14	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:34042195G>A	uc001zhi.2	+	56	8285	c.8215G>A	c.(8215-8217)GTG>ATG	p.V2739M	RYR3_uc010bar.2_Missense_Mutation_p.V2739M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2739	4.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GGTGGAGGTCGTGGCTGAGAA	0.507													A	34042195	G	A	34042195	3	1	257	1	0	0	0	0	1	0	0	0	13770	1145	40	1	8437	1	RYR3	15	34042195	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	87578	34042195	68489197	1324	128256											
CHRM5	1133	broad.mit.edu	37	chr15	34355445	34355445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtacttggttgggaagcGgacagttccactggatgagt	15	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:34355445G>A	uc001zhk.1	+	3	1197	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	CHRM5_uc001zhl.1_Missense_Mutation_p.R176Q	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	176	Extracellular (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GTTGGGAAGCGGACAGTTCCA	0.542													A	34355445	G	A	34355445	3	1	257	1	0	0	0	0	1	0	0	0	3380	1116	39	1	529	1	CHRM5	15	34355445	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	313250	34355445	68175947	1325	128257											
FSIP1	161835	broad.mit.edu	37	chr15	40034091	40034091	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggtgtcttcctcctcAtgagaaggacctgttgattt	10	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:40034091A>G	uc001zki.2	-	6	788	c.570T>C	c.(568-570)CAT>CAC	p.H190H		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	190										ovary(2)|skin(1)	3		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)		CTTCCTCCTCATGAGAAGGAC	0.299													G	40034091	A	G	40034091	2	3	257	1	0	0	0	0	0	0	0	1	6074	214	8	3		3	FSIP1	15	40034091	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	5678646	40034091	62497301	1326	128258											
BAHD1	22893	broad.mit.edu	37	chr15	40750842	40750842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattacccacttcgtaagcGcccattggttcctgagaagc	9	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:40750842G>A	uc001zlu.2	+	2	250	c.179G>A	c.(178-180)CGC>CAC	p.R60H	BAHD1_uc001zlt.2_Missense_Mutation_p.R60H|BAHD1_uc010bbp.1_Missense_Mutation_p.R60H|BAHD1_uc001zlv.2_Missense_Mutation_p.R60H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	60					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTTCGTAAGCGCCCATTGGTT	0.617													A	40750842	G	A	40750842	3	1	257	1	0	0	0	0	1	0	0	0	1297	1087	38	1	181	1	BAHD1	15	40750842	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	716751	40750842	61780550	1327	128259											
TYRO3	7301	broad.mit.edu	37	chr15	41860557	41860557	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggttcaagacaatggaacCcaggtaagacagaaccctcc	10	11	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:41860557C>A	uc001zof.1	+	8	1328	c.1104C>A	c.(1102-1104)ACC>ACA	p.T368T		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	368	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		ACAATGGAACCCAGGTAAGAC	0.517													A	41860557	C	A	41860557	2	1	257	1	0	0	0	0	0	0	0	1	16811	610	22	5		5	TYRO3	15	41860557	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1109715	41860557	60670835	1328	128260											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42139947	42139947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctacagccaggaggaCgtggacaagctgctgcacct	13	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:42139947C>T	uc010bco.2	+	20	2336	c.2235C>T	c.(2233-2235)GAC>GAT	p.D745D	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.D976D|JMJD7-PLA2G4B_uc010bcn.2_3'UTR|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.D446D	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	745	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			large_intestine(1)	1						GCCAGGAGGACGTGGACAAGC	0.632													T	42139947	C	T	42139947	2	4	257	1	0	0	0	0	0	0	0	1	7955	535	19	1		1	JMJD7-PLA2G4B	15	42139947	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	279390	42139947	60391445	1329	128261											
CDAN1	146059	broad.mit.edu	37	chr15	43026452	43026452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgccctcataggcagctCgaaggcggccttgcagagct	12	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43026452C>T	uc001zql.2	-	7	1346	c.1229G>A	c.(1228-1230)CGA>CAA	p.R410Q	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_Intron	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	410						integral to membrane	protein binding			ovary(2)	2		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)		ATAGGCAGCTCGAAGGCGGCC	0.557													T	43026452	C	T	43026452	3	4	257	1	0	0	0	0	1	0	0	0	3054	884	31	1	2542	1	CDAN1	15	43026452	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	886505	43026452	59504940	1330	128262											
TGM5	9333	broad.mit.edu	37	chr15	43527731	43527731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggacagggggctgccatcGtgcagcagagactgggcact	18	10	0	1	rs143745718		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43527731G>A	uc001zrd.1	-	10	1658	c.1650C>T	c.(1648-1650)CAC>CAT	p.H550H	TGM5_uc001zrc.1_Silent_p.H207H|TGM5_uc001zre.1_Silent_p.H468H	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	550					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		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)	GGCTGCCATCGTGCAGCAGAG	0.542													A	43527731	G	A	43527731	2	1	257	1	0	0	0	0	0	0	0	1	15830	1136	40	1		1	TGM5	15	43527731	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	501279	43527731	59003661	1331	128263											
ZSCAN29	146050	broad.mit.edu	37	chr15	43653444	43653445	+	Frame_Shift_Del	DEL	CA	CA	-													actcttactgaaactctttcCacagtcaggacacacatggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43653443_43653444CCA>C	uc001zrk.1	-	4	2533_2534	c.2386_2387TGG>G	c.(2386-2388)ggafs	p.G796fs	ZSCAN29_uc001zrj.1_Frame_Shift_Del_p.G676fs|ZSCAN29_uc010bdg.1_Frame_Shift_Del_p.G406fs|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	796					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)		GAAACTCTTTCCACAGTCAGGA	0.441													-	43653445	CA	-	43653444	7	5	257	1	0	1	0	1	0	0	0	0	18233	603	21	0	176	0	ZSCAN29	15	43653444	Frame_Shift_Del	DEL	CA	TCGA-HU-8602-01A-11D-2394-08	125713	43653444	58877948	1332	128264											
CATSPER2	117155	broad.mit.edu	37	chr15	43931885	43931885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataataatttgaatttgacGgaattgtgcaaggagtttga	10	2	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43931885G>A	uc001zsh.2	-	6	888	c.673C>T	c.(673-675)CGT>TGT	p.R225C	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.R225C|CATSPER2_uc001zsj.2_Missense_Mutation_p.R225C|CATSPER2_uc001zsk.2_3'UTR	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	225	Helical; Name=Segment S4; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		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)		TGAATTTGACGGAATTGTGCA	0.493													A	43931885	G	A	43931885	3	1	257	1	0	0	0	0	1	0	0	0	2688	1116	39	1	951	1	CATSPER2	15	43931885	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	278441	43931885	58599507	1333	128265											
FBN1	2200	broad.mit.edu	37	chr15	48760294	48760294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatagcaatttccagagcGggtatctatttaccatatac	6	9	1	1	rs111401431		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:48760294G>A	uc001zwx.1	-	38	4916	c.4588C>T	c.(4588-4590)CGC>TGC	p.R1530C	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1530			R -> C (in EL).		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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTCCAGAGCGGGTATCTATT	0.418													A	48760294	G	A	48760294	3	1	257	1	0	0	0	0	1	0	0	0	5702	1116	39	1	4143	1	FBN1	15	48760294	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4828409	48760294	53771098	1334	128266											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284489	49284489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagagtgctctttgttgagCgagctgcagttgctggactt	13	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:49284489C>T	uc001zxe.1	-	18	3392	c.3258G>A	c.(3256-3258)TCG>TCA	p.S1086S	SECISBP2L_uc001zxd.1_Silent_p.S1041S	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1086										breast(1)|skin(1)	2						CTTTGTTGAGCGAGCTGCAGT	0.547													T	49284489	C	T	49284489	2	4	257	1	0	0	0	0	0	0	0	1	14007	755	27	1		1	SECISBP2L	15	49284489	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	524195	49284489	53246903	1335	128267											
ATP8B4	79895	broad.mit.edu	37	chr15	50264869	50264870	+	Missense_Mutation	DNP	GC	GC	TT													ggagaaaatgtactcaatctGccccagttcctcattgagcg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:50264869_50264870GC>TT	uc001zxu.2	-	13	1294_1295	c.1152_1153GC>AA	c.(1150-1155)GGGCAG>GGAAAG	p.Q385K	ATP8B4_uc010ber.2_Missense_Mutation_p.Q258K|ATP8B4_uc010ufd.1_Missense_Mutation_p.Q258K|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	385	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACTCAATCTGCCCCAGTTCCT	0.416													TT	50264870	GC	TT	50264869	3	4	257	1	0	0	0	0	1	0	0	0	1197	1328	46	5	2489	5	ATP8B4	15	50264869	Missense_Mutation	DNP	GC	TCGA-HU-8602-01A-11D-2394-08	980380	50264869	52266523	1336	128268											
GLDN	342035	broad.mit.edu	37	chr15	51696612	51696612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttggattatctatgcGtcaagtgtggacggctcgag	14	8	2	0	rs149359078	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:51696612G>A	uc002aba.2	+	10	1486	c.1317G>A	c.(1315-1317)GCG>GCA	p.A439A	GLDN_uc002abb.2_Silent_p.A315A	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	439	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTATCTATGCGTCAAGTGTGG	0.418													A	51696612	G	A	51696612	2	1	257	1	0	0	0	0	0	0	0	1	6434	1132	40	1		1	GLDN	15	51696612	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1431743	51696612	50834780	1337	128269											
KIAA1370	56204	broad.mit.edu	37	chr15	52903829	52903829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatgcatcttgcttaatcGcaggatcatttagatcaatt	6	7	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:52903829G>A	uc002acg.3	-	4	500	c.347C>T	c.(346-348)GCG>GTG	p.A116V	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.A28V|KIAA1370_uc010ugf.1_Missense_Mutation_p.A123V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	116											0				all cancers(107;0.0803)		TTGCTTAATCGCAGGATCATT	0.413													A	52903829	G	A	52903829	3	1	257	1	0	0	0	0	1	0	0	0	8226	1087	38	1	2923	1	KIAA1370	15	52903829	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1207217	52903829	49627563	1338	128270											
CCPG1	9236	broad.mit.edu	37	chr15	55664165	55664165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttcttcctagcacggcGtcgtctaaaggcaggactgg	13	11	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:55664165G>A	uc002acv.1	-	6	697	c.532C>T	c.(532-534)CGC>TGC	p.R178C	CCPG1_uc002acy.2_Missense_Mutation_p.R178C|CCPG1_uc002acu.1_Missense_Mutation_p.R34C|CCPG1_uc002acw.1_Translation_Start_Site|CCPG1_uc002acx.2_Missense_Mutation_p.R178C|CCPG1_uc010bfk.1_Missense_Mutation_p.R178C|CCPG1_uc002acz.1_Missense_Mutation_p.R178C	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	178	Cytoplasmic (Potential).|Poly-Arg.|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		CTAGCACGGCGTCGTCTAAAG	0.423													A	55664165	G	A	55664165	3	1	257	1	0	0	0	0	1	0	0	0	2938	1145	40	1	1753	1	CCPG1	15	55664165	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2760336	55664165	46867227	1339	128271											
TCF12	6938	broad.mit.edu	37	chr15	57565390	57565390	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacttgaagagtgaaaaAccccaaacaaaactccttat	4	11	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:57565390A>C	uc002aec.2	+	18	2120	c.1836A>C	c.(1834-1836)AAA>AAC	p.K612N	TCF12_uc010ugm.1_Missense_Mutation_p.K664N|TCF12_uc010ugn.1_Missense_Mutation_p.K632N|TCF12_uc002aea.2_Missense_Mutation_p.K636N|TCF12_uc010bfs.2_Missense_Mutation_p.K33N|TCF12_uc002aeb.2_Missense_Mutation_p.K636N|TCF12_uc002aed.2_Missense_Mutation_p.K612N|TCF12_uc002aee.2_Missense_Mutation_p.K442N|TCF12_uc010bft.2_Missense_Mutation_p.K466N|TCF12_uc010ugo.1_Missense_Mutation_p.K376N|TCF12_uc010ugp.1_Missense_Mutation_p.K269N|TCF12_uc010ugq.1_Missense_Mutation_p.K246N|TCF12_uc010ugr.1_Missense_Mutation_p.K225N	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	612	Helix-loop-helix motif.				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			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AGAGTGAAAAACCCCAAACAA	0.453			T	TEC	extraskeletal myxoid chondrosarcoma								C	57565390	A	C	57565390	3	2	257	1	0	0	0	0	1	0	0	0	15684	40	2	5	2051	5	TCF12	15	57565390	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1901225	57565390	44966002	1340	128272											
CGNL1	84952	broad.mit.edu	37	chr15	57730401	57730401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcctagcaggcacatcGttttctgaaaatgggccacc	11	12	1	1	rs143019005		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:57730401G>A	uc002aeg.2	+	2	280	c.204G>A	c.(202-204)TCG>TCA	p.S68S	CGNL1_uc010bfw.2_Silent_p.S68S	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	68	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGGCACATCGTTTTCTGAAA	0.493													A	57730401	G	A	57730401	2	1	257	1	0	0	0	0	0	0	0	1	3304	1132	40	1		1	CGNL1	15	57730401	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	165011	57730401	44800991	1341	128273											
LIPC	3990	broad.mit.edu	37	chr15	58840557	58840557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccataaaatgctcccaCgagcgatcggtgcacctttt	8	13	0	1	rs146299102	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:58840557C>T	uc010bga.1	+	8	1445	c.837C>T	c.(835-837)CAC>CAT	p.H279H	LIPC_uc010bfz.1_Silent_p.H279H|LIPC_uc002afa.1_Silent_p.H279H|LIPC_uc010bgb.1_Silent_p.H177H|LIPC_uc010ugy.1_Silent_p.H218H	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	279		Charge relay system (By similarity).			cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AATGCTCCCACGAGCGATCGG	0.567													T	58840557	C	T	58840557	2	4	257	1	0	0	0	0	0	0	0	1	8820	535	19	1		1	LIPC	15	58840557	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1110156	58840557	43690835	1342	128274											
FAM63B	54629	broad.mit.edu	37	chr15	59063818	59063818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcgggctctcctgaggTtcccggaccctgcagctcct	11	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:59063818T>C	uc002afj.2	+	1	426	c.224T>C	c.(223-225)GTT>GCT	p.V75A	FAM63B_uc002afi.2_Missense_Mutation_p.V75A|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	75										central_nervous_system(1)	1						TCTCCTGAGGTTCCCGGACCC	0.701													C	59063818	T	C	59063818	3	2	257	1	0	0	0	0	1	0	0	0	5597	1725	60	3	226	3	FAM63B	15	59063818	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	223261	59063818	43467574	1343	128275											
SLTM	79811	broad.mit.edu	37	chr15	59181683	59181683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttttcttgttcataaCgaagctgctgttgttgcctt	7	9	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:59181683C>T	uc002afp.2	-	16	2238	c.2150G>A	c.(2149-2151)CGT>CAT	p.R717H	SLTM_uc002afn.2_Missense_Mutation_p.R259H|SLTM_uc002afo.2_Missense_Mutation_p.R699H|SLTM_uc002afq.2_Missense_Mutation_p.R286H|SLTM_uc010bgd.2_Missense_Mutation_p.R286H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	717	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTGTTCATAACGAAGCTGCTG	0.408													T	59181683	C	T	59181683	3	4	257	1	0	0	0	0	1	0	0	0	14754	536	19	1	978	1	SLTM	15	59181683	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	117865	59181683	43349709	1344	128276											
RORA	6095	broad.mit.edu	37	chr15	60792113	60792113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttagtattccatcttctCggtgattcttctgtaggacg	9	8	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:60792113C>T	uc002agv.2	-	11	1640	c.1484G>A	c.(1483-1485)CGA>CAA	p.R495Q	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R407Q|RORA_uc002agw.2_Missense_Mutation_p.R487Q|RORA_uc002agx.2_Missense_Mutation_p.R462Q	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	495	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			large_intestine(1)|ovary(1)	2						TCCATCTTCTCGGTGATTCTT	0.423													T	60792113	C	T	60792113	3	4	257	1	0	0	0	0	1	0	0	0	13528	884	31	1	194	1	RORA	15	60792113	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1610430	60792113	41739279	1345	128277											
VPS13C	54832	broad.mit.edu	37	chr15	62274697	62274697	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttcttccagcttcatcaAtgttgctgatgttatttgct	6	8	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:62274697A>C	uc002agz.2	-	21	2064	c.1990T>G	c.(1990-1992)TTG>GTG	p.L664V	VPS13C_uc002aha.2_Missense_Mutation_p.L621V|VPS13C_uc002ahb.1_Missense_Mutation_p.L664V|VPS13C_uc002ahc.1_Missense_Mutation_p.L621V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	664					protein localization					ovary(2)	2						AGCTTCATCAATGTTGCTGAT	0.323													C	62274697	A	C	62274697	3	2	257	1	0	0	0	0	1	0	0	0	17188	98	4	5	9559	5	VPS13C	15	62274697	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1482584	62274697	40256695	1346	128278											
TLN2	83660	broad.mit.edu	37	chr15	63073397	63073397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgactatcagacgactgTggttaaatactccaaagcca	8	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:63073397T>C	uc002alb.3	+	41	5573	c.5573T>C	c.(5572-5574)GTG>GCG	p.V1858A	TLN2_uc002alc.3_Missense_Mutation_p.V251A|TLN2_uc002ald.2_Missense_Mutation_p.V251A	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1858					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CAGACGACTGTGGTTAAATAC	0.488													C	63073397	T	C	63073397	3	2	257	1	0	0	0	0	1	0	0	0	15945	1696	59	3	5735	3	TLN2	15	63073397	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	798700	63073397	39457995	1347	128279											
HERC1	8925	broad.mit.edu	37	chr15	63922683	63922683	+	Frame_Shift_Del	DEL	C	C	-													acctgcccttctgaattgctCccccaggcatacacatctcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:63922682_63922682TC>T	uc002amp.3	-	68	13097	c.12949_12949GA>A	c.(12949-12951)agcfs	p.S4317fs		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4317					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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						TCTGAATTGCTCCCCCAGGCA	0.438													-	63922683	C	-	63922683	7	5	257	1	0	1	0	1	0	0	0	0	7057	842	30	0	1677	0	HERC1	15	63922683	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	849286	63922683	38608709	1348	128280											
SNX1	6642	broad.mit.edu	37	chr15	64411006	64411006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagaggaagaagaacaggAggatcaatttgatttgacag	13	4	1	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:64411006A>G	uc002amv.2	+	4	455	c.419A>G	c.(418-420)GAG>GGG	p.E140G	SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Missense_Mutation_p.E140G|SNX1_uc002amw.2_Missense_Mutation_p.E140G|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Missense_Mutation_p.E69G|SNX1_uc010bgw.2_Missense_Mutation_p.E42G	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	140					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						GAAGAACAGGAGGATCAATTT	0.363													G	64411006	A	G	64411006	3	3	257	1	0	0	0	0	1	0	0	0	14880	304	11	3	433	3	SNX1	15	64411006	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	488323	64411006	38120386	1349	128281											
CT62	196993	broad.mit.edu	37	chr15	71403497	71403497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagaaccttcctatctcCtctgaccagatgtggggtga	9	11	2	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:71403497C>T	uc002ata.2	-	4	917	c.404G>A	c.(403-405)AGG>AAG	p.R135K		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	135											0						TTCCTATCTCCTCTGACCAGA	0.433													T	71403497	C	T	71403497	3	4	257	1	0	0	0	0	1	0	0	0	3990	681	24	4	10	4	CT62	15	71403497	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6992491	71403497	31127895	1350	128282											
C15orf60	283677	broad.mit.edu	37	chr15	73852106	73852106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagactcttctggcatCggaggagctgccccatgtct	11	14	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:73852106C>T	uc002avq.2	+	6	678	c.650C>T	c.(649-651)TCG>TTG	p.S217L	C15orf60_uc010bjb.2_Missense_Mutation_p.S189L	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	hypothetical protein LOC283677	217										pancreas(1)	1						CTTCTGGCATCGGAGGAGCTG	0.458													T	73852106	C	T	73852106	3	4	257	1	0	0	0	0	1	0	0	0	1808	893	31	1	672	1	C15orf60	15	73852106	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2448609	73852106	28679286	1351	128283											
NPTN	27020	broad.mit.edu	37	chr15	73889393	73889393	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttatggtggcctgggctcGaatccatgttatggaggggt	16	7	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:73889393G>A	uc002avs.2	-	2	606	c.409C>T	c.(409-411)CGA>TGA	p.R137*	NPTN_uc010bjc.2_Nonsense_Mutation_p.R137*|NPTN_uc002avt.2_Intron|NPTN_uc002avr.2_Intron|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	137	Extracellular (Potential).				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				0						GCCTGGGCTCGAATCCATGTT	0.547													A	73889393	G	A	73889393	4	1	257	1	0	0	0	0	0	1	0	0	10601	1066	37	1	815	1	NPTN	15	73889393	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	37287	73889393	28641999	1352	128284											
PML	5371	broad.mit.edu	37	chr15	74290799	74290799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccaaccccaaccaccGcacccctacgctgaccaggt	6	21	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:74290799G>A	uc002awv.2	+	2	724	c.584G>A	c.(583-585)CGC>CAC	p.R195H	PML_uc002awm.2_Missense_Mutation_p.R195H|PML_uc002awl.2_Missense_Mutation_p.R195H|PML_uc002awj.1_Missense_Mutation_p.R195H|PML_uc002awk.2_Missense_Mutation_p.R195H|PML_uc002awn.2_Missense_Mutation_p.R195H|PML_uc002awo.2_Missense_Mutation_p.R195H|PML_uc002awp.2_Missense_Mutation_p.R195H|PML_uc002awq.2_Missense_Mutation_p.R195H|PML_uc002awr.2_Missense_Mutation_p.R195H|PML_uc002aws.2_Missense_Mutation_p.R195H|PML_uc002awt.2_Missense_Mutation_p.R195H|PML_uc002awu.2_Missense_Mutation_p.R195H|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R110H	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	195	B box-type 2.				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|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 binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CCCAACCACCGCACCCCTACG	0.622			T	RARA|PAX5	APL|ALL								A	74290799	G	A	74290799	3	1	257	1	0	0	0	0	1	0	0	0	12135	1087	38	1	590	1	PML	15	74290799	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	401406	74290799	28240593	1353	128285											
PML	5371	broad.mit.edu	37	chr15	74315437	74315437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtggtagctcacgtgCgggctcaggagcgcgagctg	18	11	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:74315437C>T	uc002awv.2	+	3	1011	c.871C>T	c.(871-873)CGG>TGG	p.R291W	PML_uc002awm.2_Missense_Mutation_p.R291W|PML_uc002awl.2_Missense_Mutation_p.R291W|PML_uc002awj.1_Missense_Mutation_p.R291W|PML_uc002awk.2_Missense_Mutation_p.R291W|PML_uc002awn.2_Missense_Mutation_p.R291W|PML_uc002awo.2_Missense_Mutation_p.R291W|PML_uc002awp.2_Missense_Mutation_p.R291W|PML_uc002awq.2_Missense_Mutation_p.R291W|PML_uc002awr.2_Missense_Mutation_p.R291W|PML_uc002aws.2_Missense_Mutation_p.R291W|PML_uc002awt.2_Missense_Mutation_p.R291W|PML_uc002awu.2_Missense_Mutation_p.R291W|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R206W|PML_uc002awx.2_Missense_Mutation_p.R49W|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	291					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|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 binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						AGCTCACGTGCGGGCTCAGGA	0.721			T	RARA|PAX5	APL|ALL								T	74315437	C	T	74315437	3	4	257	1	0	0	0	0	1	0	0	0	12135	759	27	1	881	1	PML	15	74315437	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	24638	74315437	28215955	1354	128286											
ISLR2	57611	broad.mit.edu	37	chr15	74425314	74425314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcggggccttcgccgaCgtcacacaggtcacgtcgct	14	16	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:74425314C>T	uc002axd.2	+	4	988	c.219C>T	c.(217-219)GAC>GAT	p.D73D	ISLR2_uc002axe.2_Silent_p.D73D|ISLR2_uc010bjg.2_Silent_p.D73D|ISLR2_uc010bjf.2_Silent_p.D73D	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	73	LRR 1.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCTTCGCCGACGTCACACAGG	0.632													T	74425314	C	T	74425314	2	4	257	1	0	0	0	0	0	0	0	1	7859	535	19	1		1	ISLR2	15	74425314	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	109877	74425314	28106078	1355	128287											
SIN3A	25942	broad.mit.edu	37	chr15	75676745	75676745	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtaaaggtcagtcacctGcacacagatctcatcactca	7	13	5	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:75676745G>A	uc002bai.2	-	17	3314	c.3055C>T	c.(3055-3057)CAG>TAG	p.Q1019*	SIN3A_uc002baj.2_Nonsense_Mutation_p.Q1019*|SIN3A_uc010uml.1_Nonsense_Mutation_p.Q1019*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1019					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TCAGTCACCTGCACACAGATC	0.473													A	75676745	G	A	75676745	4	1	257	1	0	0	0	0	0	1	0	0	14325	1328	46	2	786	2	SIN3A	15	75676745	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1251431	75676745	26854647	1356	128288											
LINGO1	84894	broad.mit.edu	37	chr15	77906695	77906695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgatggggccagtcgggCgagtagctgcgcacatgcag	18	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:77906695C>T	uc002bct.1	-	2	1606	c.1554G>A	c.(1552-1554)TCG>TCA	p.S518S	LINGO1_uc002bcu.1_Silent_p.S512S	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	518	Extracellular (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						GCCAGTCGGGCGAGTAGCTGC	0.662													T	77906695	C	T	77906695	2	4	257	1	0	0	0	0	0	0	0	1	8814	755	27	1		1	LINGO1	15	77906695	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2229950	77906695	24624697	1357	128289											
LINGO1	84894	broad.mit.edu	37	chr15	77907658	77907658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggttgcatttctccagCgtcagctgctccaggctgtt	11	12	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:77907658C>T	uc002bct.1	-	2	643	c.591G>A	c.(589-591)ACG>ACA	p.T197T	LINGO1_uc002bcu.1_Silent_p.T191T	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	197	Extracellular (Potential).|LRR 6.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						ATTTCTCCAGCGTCAGCTGCT	0.602													T	77907658	C	T	77907658	2	4	257	1	0	0	0	0	0	0	0	1	8814	755	27	1		1	LINGO1	15	77907658	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	963	77907658	24623734	1358	128290											
TBC1D2B	23102	broad.mit.edu	37	chr15	78317749	78317749	+	Frame_Shift_Del	DEL	T	T	-													ggtcaccactgctgtgacgaTttttgtacgacccaattatg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:78317748_78317748AT>A	uc002bcy.4	-	4	939	c.939_939AT>T	c.(937-939)aatfs	p.N313fs	TBC1D2B_uc010bla.3_Frame_Shift_Del_p.N313fs	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	313						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TGCTGTGACGATTTTTGTACG	0.507													-	78317749	T	-	78317749	7	5	257	1	0	1	0	1	0	0	0	0	15616	1493	52	0	1989	0	TBC1D2B	15	78317749	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	410091	78317749	24213643	1359	128291											
IREB2	3658	broad.mit.edu	37	chr15	78777250	78777250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataattgcaatccatctgtcAtgcttgctgcaggtgggttg	11	8	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:78777250A>G	uc002bdr.2	+	12	1723	c.1561A>G	c.(1561-1563)ATG>GTG	p.M521V	IREB2_uc010unb.1_Missense_Mutation_p.M271V	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	521							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCCATCTGTCATGCTTGCTGC	0.373													G	78777250	A	G	78777250	3	3	257	1	0	0	0	0	1	0	0	0	7826	217	8	3	1607	3	IREB2	15	78777250	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	459501	78777250	23754142	1360	128292											
IREB2	3658	broad.mit.edu	37	chr15	78790472	78790472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attattaaactttgtggcacGaaaattctcatagtatctac	5	7	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:78790472G>A	uc002bdr.2	+	22	3041	c.2879G>A	c.(2878-2880)CGA>CAA	p.R960Q	IREB2_uc010unb.1_Missense_Mutation_p.R710Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	960							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTGTGGCACGAAAATTCTCA	0.388													A	78790472	G	A	78790472	3	1	257	1	0	0	0	0	1	0	0	0	7826	1058	37	1	2965	1	IREB2	15	78790472	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	13222	78790472	23740920	1361	128293											
CTSH	1512	broad.mit.edu	37	chr15	79215386	79215386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacgatccagtaagggAtcccatttttttctccatac	5	11	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:79215386A>G	uc002ben.2	-	12	942	c.845T>C	c.(844-846)ATC>ACC	p.I282T	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Missense_Mutation_p.I134T	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	294					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						CCAGTAAGGGATCCCATTTTT	0.483													G	79215386	A	G	79215386	3	3	257	1	0	0	0	0	1	0	0	0	4036	333	12	3	134	3	CTSH	15	79215386	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	424914	79215386	23316006	1362	128294											
RASGRF1	5923	broad.mit.edu	37	chr15	79339155	79339155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagctggcggccatccGcagcgggcgcaggaaattgt	16	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:79339155G>A	uc002beq.2	-	5	1186	c.811C>T	c.(811-813)CGG>TGG	p.R271W	RASGRF1_uc002bep.2_Missense_Mutation_p.R271W|RASGRF1_uc010blm.1_Missense_Mutation_p.R193W|RASGRF1_uc002ber.3_Missense_Mutation_p.R271W	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	271	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			skin(4)|ovary(1)|central_nervous_system(1)	6						GCGGCCATCCGCAGCGGGCGC	0.587													A	79339155	G	A	79339155	3	1	257	1	0	0	0	0	1	0	0	0	13072	1086	38	1	3106	1	RASGRF1	15	79339155	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	123769	79339155	23192237	1363	128295											
KIAA1199	57214	broad.mit.edu	37	chr15	81241173	81241173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcttcaaaggcagcttcCggcccatctgggtgacactg	12	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:81241173C>T	uc002bfw.1	+	29	4254	c.3994C>T	c.(3994-3996)CGG>TGG	p.R1332W	KIAA1199_uc010unn.1_Missense_Mutation_p.R1332W|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1332										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AGGCAGCTTCCGGCCCATCTG	0.522													T	81241173	C	T	81241173	3	4	257	1	0	0	0	0	1	0	0	0	8213	643	23	1	4104	1	KIAA1199	15	81241173	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1902018	81241173	21290219	1364	128296											
IL16	3603	broad.mit.edu	37	chr15	81585075	81585075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagtgctgagaagccGtcctctgacgtggacatcag	14	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:81585075G>A	uc002bgh.3	+	12	1975	c.1599G>A	c.(1597-1599)CCG>CCA	p.P533P	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.P533P|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P575P|IL16_uc002bgg.2_Silent_p.P533P|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.P27P|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	533					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CTGAGAAGCCGTCCTCTGACG	0.617													A	81585075	G	A	81585075	2	1	257	1	0	0	0	0	0	0	0	1	7633	1132	40	1		1	IL16	15	81585075	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	343902	81585075	20946317	1365	128297											
IL16	3603	broad.mit.edu	37	chr15	81585364	81585364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcttctgggcacaccccaCccacctgtggccaggtaaga	10	16	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:81585364C>A	uc002bgh.3	+	12	2264	c.1888C>A	c.(1888-1890)CCC>ACC	p.P630T	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P672T|IL16_uc002bgg.2_Missense_Mutation_p.P630T|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.P124T|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	630					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						GCACACCCCACCCACCTGTGG	0.507													A	81585364	C	A	81585364	3	1	257	1	0	0	0	0	1	0	0	0	7633	507	18	5	1930	5	IL16	15	81585364	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	289	81585364	20946028	1366	128298											
WHAMM	123720	broad.mit.edu	37	chr15	83499704	83499704	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtgctctgtcctcatcCtctcaagctgcaactcatca	5	17	5	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:83499704C>A	uc002bje.2	+	9	2501	c.1995C>A	c.(1993-1995)TCC>TCA	p.S665S		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	665						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						TGTCCTCATCCTCTCAAGCTG	0.398													A	83499704	C	A	83499704	2	1	257	1	0	0	0	0	0	0	0	1	17358	668	24	5		5	WHAMM	15	83499704	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1914340	83499704	19031688	1367	128299											
HOMER2	9455	broad.mit.edu	37	chr15	83523521	83523521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctcccgaagggtctgcaGctcgatctcccacttcttca	8	16	5	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:83523521G>A	uc002bjg.2	-	6	745	c.559C>T	c.(559-561)CTG>TTG	p.L187L	HOMER2_uc002bjh.2_Silent_p.L176L|HOMER2_uc002bjj.2_Intron|HOMER2_uc002bji.2_Intron	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	187	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						AGGGTCTGCAGCTCGATCTCC	0.652													A	83523521	G	A	83523521	2	1	257	1	0	0	0	0	0	0	0	1	7279	962	34	2		2	HOMER2	15	83523521	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	23817	83523521	19007871	1368	128300											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84506931	84506931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccacctgcaggcttgtaCggggacaatcaaagtcacac	10	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:84506931C>T	uc002bjz.3	+	7	915	c.691C>T	c.(691-693)CGG>TGG	p.R231W	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.R231W|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R231W|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R231W	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	231						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGGCTTGTACGGGGACAATC	0.478													T	84506931	C	T	84506931	3	4	257	1	0	0	0	0	1	0	0	0	276	527	19	1	713	1	ADAMTSL3	15	84506931	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	983410	84506931	18024461	1369	128301											
ACAN	176	broad.mit.edu	37	chr15	89391193	89391193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgacaaggacagcagCccaggggtcaggacctatgg	17	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:89391193C>T	uc010upo.1	+	9	2030	c.1656C>T	c.(1654-1656)AGC>AGT	p.S552S	ACAN_uc002bmx.2_Silent_p.S552S|ACAN_uc010upp.1_Silent_p.S552S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	552					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGACAGCAGCCCAGGGGTCA	0.567													T	89391193	C	T	89391193	2	4	257	1	0	0	0	0	0	0	0	1	117	738	26	2		2	ACAN	15	89391193	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4884262	89391193	13140199	1370	128302											
FES	2242	broad.mit.edu	37	chr15	91428691	91428691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgagccgcttgctgcGgcagcacgcagaggatctga	16	12	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:91428691G>A	uc002bpv.2	+	3	359	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	FES_uc010uqj.1_Intron|FES_uc010uqk.1_Intron|FES_uc002bpw.2_RNA|FES_uc010bny.2_Intron|FES_uc002bpx.2_Missense_Mutation_p.R88Q|FES_uc002bpy.2_Intron	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	88	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGCTTGCTGCGGCAGCACGCA	0.632													A	91428691	G	A	91428691	3	1	257	1	0	0	0	0	1	0	0	0	5820	1116	39	1	269	1	FES	15	91428691	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2037498	91428691	11102701	1371	128303											
CHD2	1106	broad.mit.edu	37	chr15	93540530	93540531	+	Frame_Shift_Ins	INS	-	-	G													gcacattttgatgtagagtgINSgggggtggaagatgattctc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:93540529_93540530T>TG	uc002bsp.3	+	29	4356_4357	c.3781_3782T>TG	c.(3781-3783)tggfs	p.W1261fs	CHD2_uc002bso.1_Frame_Shift_Ins_p.W1261fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1261					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)			TGATGTAGAGTGGGGGGTGGAA	0.411													G	93540531	-	G	93540530	7	5	257	1	0	1	1	0	0	0	0	0	3325	1357	47	0	3900	0	CHD2	15	93540530	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	2111839	93540530	8990862	1372	128304											
ALDH1A3	220	broad.mit.edu	37	chr15	101434257	101434257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagcagacacctctcacCgccctttatctcggctctct	8	17	3	1	rs149815923		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:101434257C>T	uc002bwn.3	+	6	740	c.636C>T	c.(634-636)ACC>ACT	p.T212T	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	212					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	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)	CACCTCTCACCGCCCTTTATC	0.542													T	101434257	C	T	101434257	2	4	257	1	0	0	0	0	0	0	0	1	492	639	23	1		1	ALDH1A3	15	101434257	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7893727	101434257	1097135	1373	128305											
PIGQ	9091	broad.mit.edu	37	chr16	633473	633473	+	Frame_Shift_Del	DEL	C	C	-													agggaccttgccaggatgaaCcccccagtcccaggcaccct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:633472_633472AC>A	uc002cho.3	+	9	2259	c.2121_2121AC>A	c.(2119-2121)gaafs	p.E707fs	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Frame_Shift_Del_p.E277fs|PIGQ_uc010uuj.2_Frame_Shift_Del_p.V105fs	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	707					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)				GCCAGGATGAACCCCCCAGTC	0.701													-	633473	C	-	633473	7	5	257	1	0	1	0	1	0	0	0	0	11896	507	18	0	2222	0	PIGQ	16	633473	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08		633473	89721280	1374	128306											
RAB40C	57799	broad.mit.edu	37	chr16	677598	677598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccccccagaactgctcGcggagtaactgcaagatctc	9	16	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:677598G>A	uc002chr.2	+	6	938	c.822G>A	c.(820-822)TCG>TCA	p.S274S	RAB40C_uc002chq.2_Silent_p.S255S|WFIKKN1_uc002chs.1_5'Flank	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	274					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				AGAACTGCTCGCGGAGTAACT	0.692													A	677598	G	A	677598	2	1	257	1	0	0	0	0	0	0	0	1	12942	1074	38	1		1	RAB40C	16	677598	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	44125	677598	89677155	1375	128307											
JMJD8	339123	broad.mit.edu	37	chr16	733220	733220	+	Frame_Shift_Del	DEL	C	C	-													tccatgccagtggaagggcaCccccgagccagctcctgtgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:733219_733219AC>A	uc002ciw.1	-	6	647	c.590_590GT>T	c.(589-591)gtgfs	p.V197fs	JMJD8_uc002ciy.1_Frame_Shift_Del_p.V167fs	NM_001005920	NP_001005920	Q96S16	JMJD8_HUMAN	Homo sapiens jumonji domain containing 8 (JMJD8), mRNA.	246										breast(1)	1						GTGGAAGGGCACCCCCGAGCC	0.597													-	733220	C	-	733220	7	5	257	1	0	1	0	1	0	0	0	0	7956	507	18	0	280	0	JMJD8	16	733220	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	55622	733220	89621533	1376	128308											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1818599	1818599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtgctggtgctgagcggCggggagggctacatcgactt	17	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:1818599C>T	uc002cmk.2	+	31	3981	c.3861C>T	c.(3859-3861)GGC>GGT	p.G1287G	MAPK8IP3_uc002cml.2_Silent_p.G1281G|MAPK8IP3_uc010uvl.1_Silent_p.G1288G	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1287					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						TGCTGAGCGGCGGGGAGGGCT	0.706													T	1818599	C	T	1818599	2	4	257	1	0	0	0	0	0	0	0	1	9286	755	27	1		1	MAPK8IP3	16	1818599	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1085379	1818599	88536154	1377	128309											
HAGH	3029	broad.mit.edu	37	chr16	1869196	1869196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgtggcacggggtcGccaggcacttgacgttcaga	15	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:1869196G>A	uc002cna.2	-	5	868	c.461C>T	c.(460-462)GCG>GTG	p.A154V	HAGH_uc002cmz.2_Missense_Mutation_p.A106V|HAGH_uc010uvp.1_Intron|HAGH_uc002cnb.1_Missense_Mutation_p.A106V|HAGH_uc010bry.1_Missense_Mutation_p.A154V	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	154					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GCACGGGGTCGCCAGGCACTT	0.637													A	1869196	G	A	1869196	3	1	257	1	0	0	0	0	1	0	0	0	6945	1087	38	1	485	1	HAGH	16	1869196	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	50597	1869196	88485557	1378	128310											
SRRM2	23524	broad.mit.edu	37	chr16	2813626	2813627	+	Frame_Shift_Ins	INS	-	-	CT													tcaaagttgccctggatcccINStctctctctgtgcaggagta					rs144062030	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:2813625_2813626C>CCT	uc002crk.3	+	10	3645_3646	c.3096_3097C>CCT	c.(3094-3099)tccctcfs	p.S1032fs	SRRM2_uc002crj.1_Frame_Shift_Ins_p.S936fs|SRRM2_uc002crl.1_Frame_Shift_Ins_p.S1032fs|SRRM2_uc010bsu.1_Frame_Shift_Ins_p.S936fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1032	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus 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						GCCCTGGATCCCTCTCTCTCTG	0.48													CT	2813627	-	CT	2813626	7	5	257	1	0	1	1	0	0	0	0	0	15168	681	24	0	3135	0	SRRM2	16	2813626	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	944430	2813626	87541127	1379	128311											
SRRM2	23524	broad.mit.edu	37	chr16	2815810	2815810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacaacctcaaggagaggcCgctctccttcgccaaagcct	9	15	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:2815810C>T	uc002crk.2	+	11	5830	c.5281C>T	c.(5281-5283)CGC>TGC	p.R1761C	SRRM2_uc002crj.1_Missense_Mutation_p.R1665C|SRRM2_uc002crl.1_Missense_Mutation_p.R1761C|SRRM2_uc010bsu.1_Missense_Mutation_p.R1665C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1761	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AAGGAGAGGCCGCTCTCCTTC	0.577													T	2815810	C	T	2815810	3	4	257	1	0	0	0	0	1	0	0	0	15168	652	23	1	5319	1	SRRM2	16	2815810	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2184	2815810	87538943	1380	128312											
CREBBP	1387	broad.mit.edu	37	chr16	3781927	3781927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggcattcttgctgtcGccctgactgccctgcaacaa	8	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:3781927G>A	uc002cvv.2	-	29	4944	c.4740C>T	c.(4738-4740)GGC>GGT	p.G1580G	CREBBP_uc002cvw.2_Silent_p.G1542G	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1580	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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		tcttgctgtcgCCCTGACTGC	0.388			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3781927	G	A	3781927	2	1	257	1	0	0	0	0	0	0	0	1	3861	1074	38	1		1	CREBBP	16	3781927	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	966117	3781927	86572826	1381	128313											
ADCY9	115	broad.mit.edu	37	chr16	4164580	4164580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatggcgtggatgcagccGtggagcagccccctgctcag	15	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:4164580G>A	uc002cvx.2	-	2	1403	c.864C>T	c.(862-864)CAC>CAT	p.H288H		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	288	Helical; (Potential).				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			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GGATGCAGCCGTGGAGCAGCC	0.632													A	4164580	G	A	4164580	2	1	257	1	0	0	0	0	0	0	0	1	301	1136	40	1		1	ADCY9	16	4164580	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	382653	4164580	86190173	1382	128314											
TFAP4	7023	broad.mit.edu	37	chr16	4311899	4311899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccggggagcctatgcCttcgtccttgtcctctgccc	11	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:4311899C>T	uc010uxg.1	-	4	660	c.406G>A	c.(406-408)GGC>AGC	p.G136S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	136					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GAGCCTATGCCTTCGTCCTTG	0.672											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4311899	C	T	4311899	3	4	257	1	0	0	0	0	1	0	0	0	15789	681	24	4	626	4	TFAP4	16	4311899	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	147319	4311899	86042854	1383	128315											
C16orf5	29965	broad.mit.edu	37	chr16	4563767	4563767	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggggcattgggtgaccCggcggctcatagggtggggg	22	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:4563767C>T	uc002cwu.2	-	3	466	c.171G>A	c.(169-171)CCG>CCA	p.P57P	C16orf5_uc002cwv.2_Silent_p.P57P|C16orf5_uc002cww.2_Silent_p.P57P|C16orf5_uc010uxl.1_Silent_p.P57P|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA	NM_013399	NP_037531	Q9H305	LITFL_HUMAN	cell death inducing protein	57	Pro-rich.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				ovary(1)	1		Ovarian(90;0.17)				TTGGGTGACCCGGCGGCTCAT	0.652													T	4563767	C	T	4563767	2	4	257	1	0	0	0	0	0	0	0	1	1817	639	23	1		1	C16orf5	16	4563767	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	251868	4563767	85790986	1384	128316											
SEC14L5	9717	broad.mit.edu	37	chr16	5038280	5038280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagcactgcagctacaCggtgagcccaggccaccctc	11	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:5038280C>T	uc002cye.2	+	4	524	c.344C>T	c.(343-345)ACG>ATG	p.T115M		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	115	PRELI/MSF1.					integral to membrane|intracellular	transporter activity				0						TGCAGCTACACGGTGAGCCCA	0.637													T	5038280	C	T	5038280	3	4	257	1	0	0	0	0	1	0	0	0	13985	550	19	1	354	1	SEC14L5	16	5038280	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	474513	5038280	85316473	1385	128317											
USP7	7874	broad.mit.edu	37	chr16	9014266	9014266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacttcaaaggtaactttGtcatcatctataaatccttt	4	8	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:9014266G>A	uc002czl.2	-	5	760	c.561C>T	c.(559-561)GAC>GAT	p.D187D	USP7_uc010uyk.1_Silent_p.D88D|USP7_uc010uyj.1_Silent_p.D88D|USP7_uc002czk.2_Silent_p.D171D|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	187	Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.|Interaction with TSPYL5.				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			ovary(3)	3						AGGTAACTTTGTCATCATCTA	0.373													A	9014266	G	A	9014266	2	1	257	1	0	0	0	0	0	0	0	1	17085	1368	48	4		4	USP7	16	9014266	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3975986	9014266	81340487	1386	128318											
C16orf63	123811	broad.mit.edu	37	chr16	15977964	15977964	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgagacaatgatggtcGgggttcacggtcatcatcta	11	8	5	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:15977964G>A	uc002dec.1	-	2	132	c.127C>T	c.(127-129)CGA>TGA	p.R43*	C16orf63_uc002ded.1_Nonsense_Mutation_p.R43*	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	hypothetical protein LOC123811	43	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding				0						AATGATGGTCGGGGTTCACGG	0.378													A	15977964	G	A	15977964	4	1	257	1	0	0	0	0	0	1	0	0	1826	1124	39	1	413	1	C16orf63	16	15977964	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6963698	15977964	74376789	1387	128319											
ABCC1	4363	broad.mit.edu	37	chr16	16205288	16205288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcggactcttcatctccttCctcagcatcttccttttcat	3	15	6	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:16205288C>A	uc010bvi.2	+	22	3103	c.2928C>A	c.(2926-2928)TTC>TTA	p.F976L	ABCC1_uc010bvj.2_Missense_Mutation_p.F917L|ABCC1_uc010bvk.2_Missense_Mutation_p.F920L|ABCC1_uc010bvl.2_Missense_Mutation_p.F976L|ABCC1_uc010bvm.2_Missense_Mutation_p.F861L|ABCC1_uc002del.3_Missense_Mutation_p.F870L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	976	Helical; Name=12.|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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCATCTCCTTCCTCAGCATCT	0.522													A	16205288	C	A	16205288	3	1	257	1	0	0	0	0	1	0	0	0	49	854	30	5	3014	5	ABCC1	16	16205288	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	227324	16205288	74149465	1388	128320											
GPRC5B	51704	broad.mit.edu	37	chr16	19883588	19883588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtccatgggctcgtaggCgcaggctggccttgtgtcac	14	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:19883588C>T	uc002dgt.2	-	2	688	c.580G>A	c.(580-582)GCC>ACC	p.A194T	GPRC5B_uc010vav.1_Missense_Mutation_p.A220T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	194	Extracellular (Potential).									lung(1)|breast(1)|skin(1)	3						GGCTCGTAGGCGCAGGCTGGC	0.612													T	19883588	C	T	19883588	3	4	257	1	0	0	0	0	1	0	0	0	6725	768	27	1	643	1	GPRC5B	16	19883588	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3678300	19883588	70471165	1389	128321											
OTOA	146183	broad.mit.edu	37	chr16	21709120	21709120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcttcatgggtcagtgCggaacacttatgggttttgg	13	8	3	0	rs149668552		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:21709120C>T	uc002djh.2	+	9	765	c.764C>T	c.(763-765)GCG>GTG	p.A255V	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A176V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	255					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		TGGGTCAGTGCGGAACACTTA	0.303													T	21709120	C	T	21709120	3	4	257	1	0	0	0	0	1	0	0	0	11302	768	27	1	832	1	OTOA	16	21709120	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1825532	21709120	68645633	1390	128322											
PDZD9	255762	broad.mit.edu	37	chr16	22000062	22000062	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaagctgtaaaaattctcGaagagtatatcctaacacat	5	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:22000062G>A	uc002dka.1	-	4	393	c.76C>T	c.(76-78)CGA>TGA	p.R26*		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	88	PDZ.									pancreas(1)	1						AAAAATTCTCGAAGAGTATAT	0.353													A	22000062	G	A	22000062	4	1	257	1	0	0	0	0	0	1	0	0	11706	1066	37	1	540	1	PDZD9	16	22000062	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	290942	22000062	68354691	1391	128323											
EEF2K	29904	broad.mit.edu	37	chr16	22262606	22262606	+	Frame_Shift_Del	DEL	G	G	-													acagatggaggccaagctctGgggggaggagtataatcggc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:22262605_22262605TG>T	uc002dki.3	+	5	1065	c.580_580TG>T	c.(580-582)tggfs	p.W194fs	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	194	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)		GGCCAAGCTCTGGGGGGAGGA	0.622													-	22262606	G	-	22262606	7	5	257	1	0	1	0	1	0	0	0	0	4930	1357	47	0	599	0	EEF2K	16	22262606	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	262544	22262606	68092147	1392	128324											
HS3ST2	9956	broad.mit.edu	37	chr16	22926592	22926592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctagctcagattcacttCgtcagtggcgagcgactcat	10	13	4	1	rs144169281		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:22926592C>T	uc002dli.2	+	2	885	c.813C>T	c.(811-813)TTC>TTT	p.F271F	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	271	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582													T	22926592	C	T	22926592	2	4	257	1	0	0	0	0	0	0	0	1	7364	883	31	1		1	HS3ST2	16	22926592	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	663986	22926592	67428161	1393	128325											
USP31	57478	broad.mit.edu	37	chr16	23102071	23102071	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgtgtaggagaagacagtCtatgataatccaagccaaat	9	6	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:23102071C>T	uc002dll.2	-	7	1289	c.1289G>A	c.(1288-1290)AGA>AAA	p.R430K		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	430					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGACAGTCTATGATAATC	0.378													T	23102071	C	T	23102071	3	4	257	1	0	0	0	0	1	0	0	0	17059	913	32	4	2809	4	USP31	16	23102071	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	175479	23102071	67252682	1394	128326											
RBBP6	5930	broad.mit.edu	37	chr16	24580275	24580275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagatctcatggatatcatcGatctaggtcaaggtcacccc	8	11	5	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:24580275G>A	uc002dmh.2	+	17	3304	c.2264G>A	c.(2263-2265)CGA>CAA	p.R755Q	RBBP6_uc010vcb.1_Missense_Mutation_p.R622Q|RBBP6_uc002dmi.2_Missense_Mutation_p.R721Q|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R588Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	755					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			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GGATATCATCGATCTAGGTCA	0.478													A	24580275	G	A	24580275	3	1	257	1	0	0	0	0	1	0	0	0	13103	1058	37	1	2384	1	RBBP6	16	24580275	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1478204	24580275	65774478	1395	128327											
IL4R	3566	broad.mit.edu	37	chr16	27374719	27374719	+	Frame_Shift_Del	DEL	G	G	-													gagcacctgggtctggagccGggggaaaaggtagaggacat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:27374718_27374718CG>C	uc002don.3	+	10	2287	c.2045_2045CG>C	c.(2044-2046)ccgfs	p.P682fs	IL4R_uc002dop.4_Frame_Shift_Del_p.P667fs|IL4R_uc010bxy.3_Frame_Shift_Del_p.P682fs|IL4R_uc002doo.3_Frame_Shift_Del_p.P522fs	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	682					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						GGTCTGGAGCCGGGGGAAAAG	0.627													-	27374719	G	-	27374719	7	5	257	1	0	1	0	1	0	0	0	0	7698	1103	39	0	2098	0	IL4R	16	27374719	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	2794444	27374719	62980034	1396	128328											
GTF3C1	2975	broad.mit.edu	37	chr16	27481681	27481681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaactggaatgactccGtgcagatggtgcttggaaat	11	8	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:27481681G>A	uc002dov.1	-	31	4602	c.4562C>T	c.(4561-4563)ACG>ATG	p.T1521M	GTF3C1_uc002dou.2_Missense_Mutation_p.T1521M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1521						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GAATGACTCCGTGCAGATGGT	0.502													A	27481681	G	A	27481681	3	1	257	1	0	0	0	0	1	0	0	0	6872	1145	40	1	1795	1	GTF3C1	16	27481681	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	106962	27481681	62873072	1397	128329											
GTF3C1	2975	broad.mit.edu	37	chr16	27503681	27503681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggggtgttgaggcagacGcactgcaggtcaaaccagta	15	8	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:27503681G>A	uc002dov.1	-	19	3169	c.3129C>T	c.(3127-3129)TGC>TGT	p.C1043C	GTF3C1_uc002dou.2_Silent_p.C1043C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1043						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGAGGCAGACGCACTGCAGGT	0.552													A	27503681	G	A	27503681	2	1	257	1	0	0	0	0	0	0	0	1	6872	1079	38	1		1	GTF3C1	16	27503681	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	22000	27503681	62851072	1398	128330											
ATXN2L	11273	broad.mit.edu	37	chr16	28846877	28846877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccccagcagcatcaggCggggcaggccccacacttgg	12	18	1	0	rs137943525	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:28846877C>T	uc002drc.2	+	21	2861	c.2693C>T	c.(2692-2694)GCG>GTG	p.A898V	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A898V|ATXN2L_uc002dqy.2_Missense_Mutation_p.A898V|ATXN2L_uc002dra.2_Missense_Mutation_p.A898V|ATXN2L_uc002dqz.2_Missense_Mutation_p.A898V|ATXN2L_uc010vdb.1_Missense_Mutation_p.A904V|ATXN2L_uc002dre.2_Missense_Mutation_p.A898V|ATXN2L_uc002drf.2_Missense_Mutation_p.A307V|ATXN2L_uc002drg.2_Missense_Mutation_p.A181V	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	898						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CAGCATCAGGCGGGGCAGGCC	0.652													T	28846877	C	T	28846877	3	4	257	1	0	0	0	0	1	0	0	0	1212	768	27	1	2775	1	ATXN2L	16	28846877	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1343196	28846877	61507876	1399	128331											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884572	29884572	+	Frame_Shift_Del	DEL	G	G	-													gccaggcacctttgcagagtGggggctggctggtccactgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:29884571_29884571TG>T	uc010vec.2	-	13	2723	c.2478_2478CA>A	c.(2476-2478)ccafs	p.P826fs	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Frame_Shift_Del_p.P756fs|SEZ6L2_uc002dur.4_Frame_Shift_Del_p.P756fs|SEZ6L2_uc002duq.4_Frame_Shift_Del_p.P826fs|SEZ6L2_uc010ved.2_Frame_Shift_Del_p.P782fs|SEZ6L2_uc002dus.4_Frame_Shift_Del_p.P712fs	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	826	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTGCAGAGTGGGGGCTGGC	0.617													-	29884572	G	-	29884572	7	5	257	1	0	1	0	1	0	0	0	0	14144	1348	47	0	314	0	SEZ6L2	16	29884572	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1037695	29884572	60470181	1400	128332											
ALDOA	226	broad.mit.edu	37	chr16	30078940	30078941	+	Frame_Shift_Ins	INS	-	-	C													cggatgatgggcgtcccttcINSccccaagttatcaaatccaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:30078939_30078940T>TC	uc010veg.2	+	3	711_712	c.443_444T>TC	c.(442-444)ttcfs	p.F148fs	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dvw.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dvz.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dwa.4_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dwc.3_Frame_Shift_Ins_p.F94fs	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	94					ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|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						GGGCGTCCCTTCCCCCAAGTTA	0.574													C	30078941	-	C	30078940	7	5	257	1	0	1	1	0	0	0	0	0	507	854	30	0	288	0	ALDOA	16	30078940	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	194368	30078940	60275813	1401	128333											
PHKG2	5261	broad.mit.edu	37	chr16	30768336	30768336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagcaccggccccctgGgccttttcccatcatgggcc	9	18	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:30768336G>T	uc002dzk.1	+	10	1232	c.1139G>T	c.(1138-1140)GGG>GTG	p.G380V	PHKG2_uc002dzi.1_Missense_Mutation_p.G384V|PHKG2_uc002dzj.1_Missense_Mutation_p.G278V	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	380					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CGGCCCCCTGGGCCTTTTCCC	0.612													T	30768336	G	T	30768336	3	4	257	1	0	0	0	0	1	0	0	0	11847	1232	43	5	1173	5	PHKG2	16	30768336	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	689396	30768336	59586417	1402	128334											
SETD1A	9739	broad.mit.edu	37	chr16	30995289	30995291	+	In_Frame_Del	DEL	ACA	ACA	-													ctacaagttcccactggaagAcaacaagatcccgtgtctgt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:30995288_30995290GACA>G	uc002ead.1	+	18	5754_5756	c.5068_5070GACA>G	c.(5068-5070)gac>G	p.D1690del	HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein 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						CCCACTGGAAGACAACAAGATCC	0.567													-	30995291	ACA	-	30995289	7	5	257	1	0	1	0	1	0	0	0	0	14130	275	10	0	5139	0	SETD1A	16	30995289	In_Frame_Del	DEL	ACA	TCGA-HU-8602-01A-11D-2394-08	226953	30995289	59359464	1403	128335											
ZNF668	79759	broad.mit.edu	37	chr16	31072706	31072707	+	Frame_Shift_Ins	INS	-	-	G													cactctcggcacacaaactgINSggggggcttctcgtcagcct					rs77284397		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:31072705_31072706T>TG	uc021tgt.1	-	3	1968_1969	c.1612_1613A>CA	c.(1612-1614)cagfs	p.Q538fs	ZNF668_uc010cag.2_Frame_Shift_Ins_p.Q515fs|ZNF668_uc010caf.3_Frame_Shift_Ins_p.Q515fs|ZNF668_uc002eao.3_Frame_Shift_Ins_p.Q515fs	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	515					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						GCACACAAACTGGGGGGGCTTC	0.663													G	31072707	-	G	31072706	7	5	257	1	0	1	1	0	0	0	0	0	18072	1357	47	0	320	0	ZNF668	16	31072706	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	77417	31072706	59282047	1404	128336											
PRSS53	339105	broad.mit.edu	37	chr16	31098131	31098131	+	Frame_Shift_Del	DEL	C	C	-													gggcaactgcagggcagccaCccccacctcttcggccccag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:31098130_31098130AC>A	uc002eaq.3	-	3	332	c.332_332GT>T	c.(331-333)gtgfs	p.V111fs	PRSS53_uc002ear.3_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	111	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CAGGGCAGCCACCCCCACCTC	0.652													-	31098131	C	-	31098131	7	5	257	1	0	1	0	1	0	0	0	0	12632	507	18	0	1362	0	PRSS53	16	31098131	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	25425	31098131	59256622	1405	128337											
ITGAM	3684	broad.mit.edu	37	chr16	31288261	31288261	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggccccttgctgagcacTgtggggagctatgactgggc	15	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:31288261T>G	uc002ebq.2	+	11	1202	c.1104T>G	c.(1102-1104)ACT>ACG	p.T368T	ITGAM_uc002ebr.2_Silent_p.T368T|ITGAM_uc010cam.1_Silent_p.T19T	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	368	FG-GAP 3.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						TGCTGAGCACTGTGGGGAGCT	0.493													G	31288261	T	G	31288261	2	3	257	1	0	0	0	0	0	0	0	1	7887	1567	55	5		5	ITGAM	16	31288261	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	190130	31288261	59066492	1406	128338											
DNAJA2	10294	broad.mit.edu	37	chr16	46991017	46991017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctatcattataggcttcaCgcctctgaccacctcctgag	7	14	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:46991017C>T	uc002eeo.2	-	9	1305	c.1163G>A	c.(1162-1164)CGT>CAT	p.R388H	DNAJA2_uc002eep.2_Missense_Mutation_p.R305H	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	388					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				ATAGGCTTCACGCCTCTGACC	0.483													T	46991017	C	T	46991017	3	4	257	1	0	0	0	0	1	0	0	0	4612	536	19	1	79	1	DNAJA2	16	46991017	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	15702756	46991017	43363736	1407	128339											
ABCC12	94160	broad.mit.edu	37	chr16	48149395	48149395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgcactcctcaaagacGtgcttccccacgtgggcgtc	9	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:48149395G>A	uc002efc.1	-	13	2266	c.1920C>T	c.(1918-1920)CAC>CAT	p.H640H	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	640	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTCAAAGACGTGCTTCCCCA	0.612													A	48149395	G	A	48149395	2	1	257	1	0	0	0	0	0	0	0	1	52	1136	40	1		1	ABCC12	16	48149395	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1158378	48149395	42205358	1408	128340											
ABCC12	94160	broad.mit.edu	37	chr16	48180286	48180286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcaaaggatctccgcCggcctcgctggtccagatct	10	14	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:48180286C>T	uc002efc.1	-	1	396	c.50G>A	c.(49-51)CGG>CAG	p.R17Q	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.R17Q|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	17						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATCTCCGCCGGCCTCGCTG	0.577													T	48180286	C	T	48180286	3	4	257	1	0	0	0	0	1	0	0	0	52	652	23	1	4145	1	ABCC12	16	48180286	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	30891	48180286	42174467	1409	128341											
SIAH1	6477	broad.mit.edu	37	chr16	48395676	48395676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttagctcaagtcggtaagCaaaattttcagcttgcttgc	8	8	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:48395676C>T	uc002efo.1	-	2	781	c.664G>A	c.(664-666)GCT>ACT	p.A222T	uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Missense_Mutation_p.A253T	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	seven in absentia homolog 1 isoform a	222	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AGTCGGTAAGCAAAATTTTCA	0.433													T	48395676	C	T	48395676	3	4	257	1	0	0	0	0	1	0	0	0	14299	710	25	2	188	2	SIAH1	16	48395676	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	215390	48395676	41959077	1410	128342											
C16orf78	123970	broad.mit.edu	37	chr16	49430514	49430514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacgaacgcaagctaaagaGcctcatggagaaaagcaccg	10	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:49430514G>T	uc002efr.2	+	4	618	c.575G>T	c.(574-576)AGC>ATC	p.S192I		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	192										central_nervous_system(1)	1						AAGCTAAAGAGCCTCATGGAG	0.537													T	49430514	G	T	49430514	3	4	257	1	0	0	0	0	1	0	0	0	1835	971	34	5	589	5	C16orf78	16	49430514	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1034838	49430514	40924239	1411	128343											
ZNF423	23090	broad.mit.edu	37	chr16	49672706	49672706	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtcacaaccatctccGatcatctgcgtgggtgacgc	11	14	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:49672706G>A	uc002efs.2	-	5	655	c.357C>T	c.(355-357)ATC>ATT	p.I119I	ZNF423_uc010vgn.1_Silent_p.I2I	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	119					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				AACCATCTCCGATCATCTGCG	0.602													A	49672706	G	A	49672706	2	1	257	1	0	0	0	0	0	0	0	1	17895	1048	37	1		1	ZNF423	16	49672706	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	242192	49672706	40682047	1412	128344											
SNX20	124460	broad.mit.edu	37	chr16	50707432	50707432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgaagtccttgcccagcGcgtaggccaggcggaccatg	13	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:50707432G>A	uc002egk.2	-	4	1009	c.836C>T	c.(835-837)GCG>GTG	p.A279V	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	279					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						CTTGCCCAGCGCGTAGGCCAG	0.697													A	50707432	G	A	50707432	3	1	257	1	0	0	0	0	1	0	0	0	14892	1087	38	1	261	1	SNX20	16	50707432	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1034726	50707432	39647321	1413	128345											
SNX20	124460	broad.mit.edu	37	chr16	50707935	50707935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatagcgccgttccaggacGgccttgttgttgtcaaagct	12	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:50707935G>A	uc002egk.2	-	4	506	c.333C>T	c.(331-333)GCC>GCT	p.A111A	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	111	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GTTCCAGGACGGCCTTGTTGT	0.597													A	50707935	G	A	50707935	2	1	257	1	0	0	0	0	0	0	0	1	14892	1103	39	1		1	SNX20	16	50707935	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	503	50707935	39646818	1414	128346											
IRX6	79190	broad.mit.edu	37	chr16	55362962	55362962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtctctggcgcacaccGcgacagccagcgctgttgaa	12	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:55362962G>A	uc002ehy.2	+	5	1605	c.1072G>A	c.(1072-1074)GCG>ACG	p.A358T	IRX6_uc002ehx.2_Missense_Mutation_p.A358T	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	358						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GGCGCACACCGCGACAGCCAG	0.637													A	55362962	G	A	55362962	3	1	257	1	0	0	0	0	1	0	0	0	7848	1087	38	1	1090	1	IRX6	16	55362962	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4655027	55362962	34991791	1415	128347											
NLRC5	84166	broad.mit.edu	37	chr16	57060196	57060196	+	Frame_Shift_Del	DEL	C	C	-													cagatggtgctcgccctcagCccccctgggcacttgcccac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57060195_57060195GC>G	uc021tiu.1	+	4	1467	c.1340_1340GC>G	c.(1339-1341)agcfs	p.S447fs	NLRC5_uc021tit.1_Frame_Shift_Del_p.S447fs|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Frame_Shift_Del_p.S252fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.S252fs|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	447	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|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|RNA polymerase II core promoter sequence-specific DNA binding|protein 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)				CTCGCCCTCAGCCCCCCTGGG	0.607													-	57060196	C	-	57060196	7	5	257	1	0	1	0	1	0	0	0	0	10470	738	26	0	1355	0	NLRC5	16	57060196	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	1697234	57060196	33294557	1416	128348											
RSPRY1	89970	broad.mit.edu	37	chr16	57238591	57238591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgtctttggttgggcCgtgttcttagcgagcagaag	14	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57238591C>T	uc002elb.2	+	2	299	c.21C>T	c.(19-21)GCC>GCT	p.A7A	RSPRY1_uc002elc.2_Silent_p.A7A|RSPRY1_uc002eld.2_Silent_p.A7A|RSPRY1_uc002ele.1_Silent_p.A7A	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	7						extracellular region	zinc ion binding			ovary(1)	1						TTGGTTGGGCCGTGTTCTTAG	0.463													T	57238591	C	T	57238591	2	4	257	1	0	0	0	0	0	0	0	1	13713	639	23	1		1	RSPRY1	16	57238591	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	178395	57238591	33116162	1417	128349											
COQ9	57017	broad.mit.edu	37	chr16	57493505	57493505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacacccgccgagccatgcTggctgccatctacaacacaa	8	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57493505T>C	uc002elq.2	+	7	756	c.740T>C	c.(739-741)CTG>CCG	p.L247P	COQ9_uc002elr.2_Missense_Mutation_p.L212P|COQ9_uc002els.2_Missense_Mutation_p.L40P	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	247					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						CGAGCCATGCTGGCTGCCATC	0.537													C	57493505	T	C	57493505	3	2	257	1	0	0	0	0	1	0	0	0	3751	1580	55	3	766	3	COQ9	16	57493505	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	254914	57493505	32861248	1418	128350											
CCDC135	84229	broad.mit.edu	37	chr16	57752348	57752348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccttgactgaagaagaCgacagtgggataaacgatga	12	7	0	5			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57752348C>T	uc002emi.2	+	8	1256	c.1167C>T	c.(1165-1167)GAC>GAT	p.D389D	CCDC135_uc002emj.2_Silent_p.D389D|CCDC135_uc002emk.2_Silent_p.D324D	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	389						cytoplasm				central_nervous_system(1)	1						CTGAAGAAGACGACAGTGGGA	0.517													T	57752348	C	T	57752348	2	4	257	1	0	0	0	0	0	0	0	1	2769	535	19	1		1	CCDC135	16	57752348	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	258843	57752348	32602405	1419	128351											
ZNF319	57567	broad.mit.edu	37	chr16	58031734	58031734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggtgctgtgccagtgAggtgagtagtgagaagccca	17	7	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:58031734A>G	uc002emx.1	-	2	1059	c.436T>C	c.(436-438)TCA>CCA	p.S146P		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	146	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTGCCAGTGAGGTGAGTAGT	0.602													G	58031734	A	G	58031734	3	3	257	1	0	0	0	0	1	0	0	0	17834	304	11	3	1316	3	ZNF319	16	58031734	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	279386	58031734	32323019	1420	128352											
CES2	8824	broad.mit.edu	37	chr16	66975483	66975483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagctgctggcctctgcCgactttcagcctgtccctag	11	15	2	0	rs61735428	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:66975483C>T	uc002eqr.2	+	7	2182	c.1182C>T	c.(1180-1182)GCC>GCT	p.A394A	CES2_uc002eqq.2_Silent_p.A394A|CES2_uc002eqs.2_Silent_p.A237A	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	330					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGGCCTCTGCCGACTTTCAGC	0.587													T	66975483	C	T	66975483	2	4	257	1	0	0	0	0	0	0	0	1	3270	639	23	1		1	CES2	16	66975483	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8943749	66975483	23379270	1421	128353											
CES8	283848	broad.mit.edu	37	chr16	67034813	67034813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcgctgcttcttcgtaCgagggctctgacttggccgc	15	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67034813C>T	uc002eqv.2	+	4	499	c.456C>T	c.(454-456)TAC>TAT	p.Y152Y	CES8_uc010vix.1_Silent_p.Y152Y|CES8_uc002eqw.2_Silent_p.Y152Y|CES8_uc002eqy.2_Silent_p.Y54Y|CES8_uc002eqx.2_Translation_Start_Site|CES8_uc010viy.1_Silent_p.Y54Y|CES8_uc010viz.1_Silent_p.Y54Y	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	152						extracellular region	carboxylesterase activity				0						CTTCTTCGTACGAGGGCTCTG	0.667													T	67034813	C	T	67034813	2	4	257	1	0	0	0	0	0	0	0	1	3273	547	19	1		1	CES8	16	67034813	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	59330	67034813	23319940	1422	128354											
CES8	283848	broad.mit.edu	37	chr16	67035233	67035233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggacgacagccacgcgcgcGggaactgggggctgctggac	18	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67035233G>T	uc002eqv.2	+	5	602	c.559G>T	c.(559-561)GGG>TGG	p.G187W	CES8_uc010vix.1_Missense_Mutation_p.G187W|CES8_uc002eqw.2_Missense_Mutation_p.G187W|CES8_uc002eqy.2_Missense_Mutation_p.G89W|CES8_uc002eqx.2_5'UTR|CES8_uc010viy.1_Missense_Mutation_p.G93W|CES8_uc010viz.1_Missense_Mutation_p.G89W	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	187						extracellular region	carboxylesterase activity				0						CCACGCGCGCGGGAACTGGGG	0.697													T	67035233	G	T	67035233	3	4	257	1	0	0	0	0	1	0	0	0	3273	1116	39	5	658	5	CES8	16	67035233	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	420	67035233	23319520	1423	128355											
LRRC29	26231	broad.mit.edu	37	chr16	67241525	67241525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagagtgttagggtcaGgtcagcccctcccacgaagc	12	14	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67241525G>T	uc002esd.2	-	4	1552	c.655C>A	c.(655-657)CTG>ATG	p.L219M	LRRC29_uc002ese.2_Missense_Mutation_p.L219M|LRRC29_uc002esf.2_Missense_Mutation_p.L219M|LRRC29_uc002esg.2_Missense_Mutation_p.L219M	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	F-box and leucine-rich repeat protein 9	219											0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTAGGGTCAGGTCAGCCCCT	0.637													T	67241525	G	T	67241525	3	4	257	1	0	0	0	0	1	0	0	0	8983	991	35	5	20	5	LRRC29	16	67241525	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	206292	67241525	23113228	1424	128356											
KCTD19	146212	broad.mit.edu	37	chr16	67323584	67323584	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcgaagggcagtgtaAgctggaaggaaaggccagtc	16	8	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67323584A>C	uc002esu.2	-	16	2720	c.2669T>G	c.(2668-2670)CTT>CGT	p.L890R	KCTD19_uc002est.2_Missense_Mutation_p.L662R|KCTD19_uc010vjj.1_Missense_Mutation_p.L633R	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	890						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGCAGTGTAAGCTGGAAGGA	0.552													C	67323584	A	C	67323584	3	2	257	1	0	0	0	0	1	0	0	0	8106	86	3	5	115	5	KCTD19	16	67323584	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	82059	67323584	23031169	1425	128357											
RLTPR	146206	broad.mit.edu	37	chr16	67688258	67688258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgaggaggacccggCcactgaggggggcgccactc	17	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67688258C>T	uc002etn.2	+	31	3365	c.3245C>T	c.(3244-3246)GCC>GTC	p.A1082V	RLTPR_uc010vjr.1_Missense_Mutation_p.A1046V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1082										breast(1)	1		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)		GAGGACCCGGCCACTGAGGGG	0.662													T	67688258	C	T	67688258	3	4	257	1	0	0	0	0	1	0	0	0	13394	739	26	2	3367	2	RLTPR	16	67688258	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	364674	67688258	22666495	1426	128358											
RANBP10	57610	broad.mit.edu	37	chr16	67768880	67768880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaaacaggaagggctgCtgcccaaagttggcgtccac	12	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67768880C>T	uc002eud.2	-	6	773	c.657G>A	c.(655-657)CAG>CAA	p.Q219Q	RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.Q163Q|RANBP10_uc010vjv.1_Silent_p.Q102Q|RANBP10_uc010vjx.1_Silent_p.Q219Q|RANBP10_uc010vjy.1_Silent_p.Q87Q	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	219	B30.2/SPRY.									ovary(1)	1		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)		GGAAGGGCTGCTGCCCAAAGT	0.602													T	67768880	C	T	67768880	2	4	257	1	0	0	0	0	0	0	0	1	13026	796	28	2		2	RANBP10	16	67768880	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	80622	67768880	22585873	1427	128359											
NRN1L	123904	broad.mit.edu	37	chr16	67918831	67918831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgctgccgccgccgcTgctgctgccggcaaccaccc	12	20	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67918831T>C	uc002euu.2	+	1	51	c.25T>C	c.(25-27)TGC>CGC	p.C9R	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	neuritin 1-like precursor	9						anchored to membrane|plasma membrane				central_nervous_system(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CCGCCGCCGCTGCTGCTGCCG	0.721													C	67918831	T	C	67918831	3	2	257	1	0	0	0	0	1	0	0	0	10659	1580	55	3	27	3	NRN1L	16	67918831	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	149951	67918831	22435922	1428	128360											
DPEP2	64174	broad.mit.edu	37	chr16	68026858	68026858	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaattacgcacccgtcCacgagcgggaagtcccgcat	11	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:68026858C>A	uc010cey.2	-	1	422	c.258G>T	c.(256-258)GTG>GTT	p.V86V	DPEP2_uc002evd.3_Silent_p.V86V|DPEP2_uc002eve.2_Silent_p.V86V|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Silent_p.V86V	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	86					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CGCACCCGTCCACGAGCGGGA	0.662													A	68026858	C	A	68026858	2	1	257	1	0	0	0	0	0	0	0	1	4714	581	21	5		5	DPEP2	16	68026858	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	108027	68026858	22327895	1429	128361											
CDH3	1001	broad.mit.edu	37	chr16	68732248	68732248	+	Frame_Shift_Del	DEL	G	G	-													ttacgattatctgaacgagtGgggcagccgcttcaagaagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:68732247_68732247TG>T	uc002ewf.2	+	15	3566	c.2434_2434TG>T	c.(2434-2436)tggfs	p.W812fs	CDH3_uc010vli.1_Frame_Shift_Del_p.W757fs	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	812					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)		TCTGAACGAGTGGGGCAGCCG	0.637													-	68732248	G	-	68732248	7	5	257	1	0	1	0	1	0	0	0	0	3111	1357	47	0	2497	0	CDH3	16	68732248	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	705390	68732248	21622505	1430	128362											
TERF2	7014	broad.mit.edu	37	chr16	69391422	69391422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaattttaaattaccTgcttttttgttatattggtt	6	3	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:69391422T>C	uc002exd.2	-	9	1468	c.1343A>G	c.(1342-1344)CAG>CGG	p.Q448R		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	448	HTH myb-type.				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			lung(1)	1		Ovarian(137;0.101)				TTAAATTACCTGCTTTTTTGT	0.393													C	69391422	T	C	69391422	3	2	257	1	0	0	0	0	1	0	0	0	15759	1594	55	3	167	3	TERF2	16	69391422	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	659174	69391422	20963331	1431	128363											
WWP2	11060	broad.mit.edu	37	chr16	69965738	69965738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctatgacctgcgccgcCggctctacatcatcatgcgt	8	16	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:69965738C>T	uc002exu.1	+	17	1716	c.1627C>T	c.(1627-1629)CGG>TGG	p.R543W	WWP2_uc002exv.1_Missense_Mutation_p.R543W|WWP2_uc010vlm.1_Missense_Mutation_p.R427W|WWP2_uc010vln.1_Missense_Mutation_p.R161W|WWP2_uc002exw.1_Missense_Mutation_p.R104W|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	543	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			lung(3)|ovary(1)|breast(1)|skin(1)	6						CCTGCGCCGCCGGCTCTACAT	0.647													T	69965738	C	T	69965738	3	4	257	1	0	0	0	0	1	0	0	0	17413	643	23	1	1689	1	WWP2	16	69965738	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	574316	69965738	20389015	1432	128364											
AARS	16	broad.mit.edu	37	chr16	70293086	70293086	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcatgatgggtcttcgtcGgggctggaaagggcagaggg	19	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:70293086G>T	uc002eyn.1	-	14	1899	c.1789C>A	c.(1789-1791)CGA>AGA	p.R597R	AARS_uc010vlu.1_Silent_p.R427R	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	597					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGTCTTCGTCGGGGCTGGAAA	0.398													T	70293086	G	T	70293086	2	4	257	1	0	0	0	0	0	0	0	1	19	1124	39	5		5	AARS	16	70293086	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	327348	70293086	20061667	1433	128365											
DDX19B	11269	broad.mit.edu	37	chr16	70398964	70398964	+	Frame_Shift_Del	DEL	A	A	-													gagctggcgcttcaaacaggAaaagtgattgagcagatggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:70398963_70398963GA>G	uc002eys.3	+	6	665	c.536_536GA>G	c.(535-537)ggafs	p.G179fs	DDX19B_uc010cfq.1_Intron|DDX19B_uc010cfs.3_5'UTR|DDX19B_uc010vlz.2_Frame_Shift_Del_p.G147fs|DDX19B_uc002eyv.3_Frame_Shift_Del_p.G178fs|DDX19B_uc010cfr.3_Frame_Shift_Del_p.G28fs|DDX19B_uc010vma.2_Frame_Shift_Del_p.G88fs	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	179	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CTTCAAACAGGAAAAGTGATT	0.458													-	70398964	A	-	70398964	7	5	257	1	0	1	0	1	0	0	0	0	4347	233	9	0		0	DDX19B	16	70398964	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	105878	70398964	19955789	1434	128366											
MARVELD3	91862	broad.mit.edu	37	chr16	71674501	71674501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgctcgcccctgatataCggtggcgtggctgtttctct	11	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:71674501C>T	uc002fau.2	+	3	867	c.804C>T	c.(802-804)TAC>TAT	p.Y268Y	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				CCCTGATATACGGTGGCGTGG	0.567													T	71674501	C	T	71674501	2	4	257	1	0	0	0	0	0	0	0	1	9319	547	19	1		1	MARVELD3	16	71674501	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1275537	71674501	18680252	1435	128367											
ZFHX3	463	broad.mit.edu	37	chr16	72821094	72821094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtccgttcctacactgGtcagaccactgtccttgggg	12	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:72821094G>A	uc002fck.2	-	10	11754	c.11081C>T	c.(11080-11082)ACC>ATC	p.T3694I	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.T2780I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3694					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TCCTACACTGGTCAGACCACT	0.463													A	72821094	G	A	72821094	3	1	257	1	0	0	0	0	1	0	0	0	17631	1261	44	4	34	4	ZFHX3	16	72821094	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1146593	72821094	17533659	1436	128368											
ZFHX3	463	broad.mit.edu	37	chr16	72830903	72830904	+	Frame_Shift_Del	DEL	CT	CT	-													ctcccccctcggcgctgtccCtctctctctggctttctttt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:72830902_72830903CCT>C	uc002fck.3	-	8	6351_6352	c.5678_5679AGG>G	c.(5677-5679)aggfs	p.R1893fs	ZFHX3_uc002fcl.3_Frame_Shift_Del_p.R979fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1893					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)				CGGCGCTGTCCCTCTCTCTCTG	0.54													-	72830904	CT	-	72830903	7	5	257	1	0	1	0	1	0	0	0	0	17631	681	24	0	5441	0	ZFHX3	16	72830903	Frame_Shift_Del	DEL	CT	TCGA-HU-8602-01A-11D-2394-08	9809	72830903	17523850	1437	128369											
ADAMTS18	170692	broad.mit.edu	37	chr16	77396098	77396109	+	In_Frame_Del	DEL	CAGACTGCCATT	CAGACTGCCATT	-													gccattctttccaatgagggCagactgccattgacaaaaac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:77396097_77396108GCAGACTGCCATT>G	uc002ffc.4	-	6	1529_1540	c.1110_1121AATGGCAGTCTGC>C	c.(1108-1122)caatggcagtctgcc>caCc	p.370_374QWQSA>H	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_In_Frame_Del_p.66_70QWQSA>H|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	370	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W371L(2)|p.S373Y(2)|p.C369Y(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						TCCAATGAGGGCAGACTGCCATTGACAAAAAC	0.406													-	77396109	CAGACTGCCATT	-	77396098	7	5	257	1	0	1	0	1	0	0	0	0	263	710	25	0	2613	0	ADAMTS18	16	77396098	In_Frame_Del	DEL	CAGACTGCCATT	TCGA-HU-8602-01A-11D-2394-08	4565195	77396098	12958655	1438	128370											
ATMIN	23300	broad.mit.edu	37	chr16	81075980	81075980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaagacatgcagaggActgtggcaagaccttccggt	12	10	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:81075980A>G	uc002ffz.1	+	3	575	c.557A>G	c.(556-558)GAC>GGC	p.D186G	ATMIN_uc002fga.2_Missense_Mutation_p.D28G|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Missense_Mutation_p.D28G	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	186					response to DNA damage stimulus	nucleus	zinc ion binding				0						CATGCAGAGGACTGTGGCAAG	0.498													G	81075980	A	G	81075980	3	3	257	1	0	0	0	0	1	0	0	0	1110	275	10	3	567	3	ATMIN	16	81075980	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	3679882	81075980	9278773	1439	128371											
CMIP	80790	broad.mit.edu	37	chr16	81735407	81735407	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagctgaaggagctggTgagtccccggctgctccgga	18	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:81735407T>C	uc002fgp.2	+	16	1968	c.1896_splice	c.e16+2	p.L632_splice	CMIP_uc002fgq.1_Splice_Site_p.L538_splice|CMIP_uc010vnq.1_Splice_Site_p.L445_splice|CMIP_uc002fgr.1_Splice_Site_p.L479_splice	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip							cytoplasm|nucleus					0						AAGGAGCTGGTGAGTCCCCGG	0.652													C	81735407	T	C	81735407	5	2	257	1	0	0	0	0	0	0	1	0	3578	1710	59	3	1982	3	CMIP	16	81735407	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	659427	81735407	8619346	1440	128372											
KLHL36	79786	broad.mit.edu	37	chr16	84690621	84690621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccgtgtgcagcgacTacttcaactccatgttcacc	9	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:84690621T>C	uc002fig.2	+	3	349	c.208T>C	c.(208-210)TAC>CAC	p.Y70H	KLHL36_uc010chl.2_Missense_Mutation_p.Y69H	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	70	BTB.									skin(2)	2						GTGCAGCGACTACTTCAACTC	0.622													C	84690621	T	C	84690621	3	2	257	1	0	0	0	0	1	0	0	0	8389	1522	53	3	214	3	KLHL36	16	84690621	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2955214	84690621	5664132	1441	128373											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	257	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	991669	85682290	4672463	1442	128374											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451111	87451111	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggggtaatacttgtgcaaAcgcagtttcctaagccagtc	10	10	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:87451111A>G	uc002fjz.1	-	8	954	c.927T>C	c.(925-927)CGT>CGC	p.R309R	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.R85R	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	309					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACTTGTGCAAACGCAGTTTCC	0.507											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	87451111	A	G	87451111	2	3	257	1	0	0	0	0	0	0	0	1	17580	30	2	3		3	ZCCHC14	16	87451111	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1768821	87451111	2903642	1443	128375											
SNAI3	333929	broad.mit.edu	37	chr16	88744893	88744893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagactcctcatgccgcGccaggagggacatgcgggag	15	13	1	1	rs147688628		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:88744893G>A	uc002flj.2	-	3	910	c.842C>T	c.(841-843)GCG>GTG	p.A281V	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	281	C2H2-type 5; degenerate.				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		CTCATGCCGCGCCAGGAGGGA	0.677													A	88744893	G	A	88744893	3	1	257	1	0	0	0	0	1	0	0	0	14828	1087	38	1	40	1	SNAI3	16	88744893	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1293782	88744893	1609860	1444	128376											
CDT1	81620	broad.mit.edu	37	chr16	88873791	88873791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcctgagctggcccgcGtgctgcggagcgtctttgtg	17	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:88873791G>A	uc002flu.2	+	9	1432	c.1378G>A	c.(1378-1380)GTG>ATG	p.V460M		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	460					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GCTGGCCCGCGTGCTGCGGAG	0.652													A	88873791	G	A	88873791	3	1	257	1	0	0	0	0	1	0	0	0	3180	1145	40	1	1412	1	CDT1	16	88873791	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	128898	88873791	1480962	1445	128377											
RPH3AL	9501	broad.mit.edu	37	chr17	63666	63666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcagctggaggggcCtgctggagctgcgtcagcag	18	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:63666C>T	uc002frd.1	-	8	969	c.925G>A	c.(925-927)GGC>AGC	p.G309S	RPH3AL_uc010vpy.1_3'UTR|RPH3AL_uc002fre.1_Missense_Mutation_p.G309S|RPH3AL_uc002frf.1_Missense_Mutation_p.G280S|RPH3AL_uc010cjl.1_Missense_Mutation_p.G280S	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	309					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				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)		CTGGAGGGGCCTGCTGGAGCT	0.637													T	63666	C	T	63666	3	4	257	1	0	0	0	0	1	0	0	0	13552	681	24	4	26	4	RPH3AL	17	63666	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08		63666	81131544	1446	128378											
NXN	64359	broad.mit.edu	37	chr17	704255	704255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctccacgatggcgggGgtgatctcctccacgtccat	12	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:704255G>A	uc002fsa.2	-	8	1334	c.1242C>T	c.(1240-1242)ACC>ACT	p.T414T	NXN_uc010vqd.1_Silent_p.T105T|NXN_uc002frz.2_Silent_p.T165T|NXN_uc010vqe.1_Silent_p.T306T	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	414					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CGATGGCGGGGGTGATCTCCT	0.577													A	704255	G	A	704255	2	1	257	1	0	0	0	0	0	0	0	1	10787	1219	43	4		4	NXN	17	704255	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	640589	704255	80490955	1447	128379											
SCARF1	8578	broad.mit.edu	37	chr17	1538704	1538704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagagcctcttgggctttCggagcgggctggagagctcc	18	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1538704C>T	uc002fsz.1	-	11	1891	c.1841G>A	c.(1840-1842)CGA>CAA	p.R614Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	614	Pro/Ser-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGGCTTTCGGAGCGGGCT	0.662													T	1538704	C	T	1538704	3	4	257	1	0	0	0	0	1	0	0	0	13883	884	31	1	655	1	SCARF1	17	1538704	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	834449	1538704	79656506	1448	128380											
SCARF1	8578	broad.mit.edu	37	chr17	1543228	1543228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccccagtagccggcacTgcagacacagtcccctgtca	11	17	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1543228T>C	uc002fsz.1	-	6	1167	c.1117A>G	c.(1117-1119)AGT>GGT	p.S373G	SCARF1_uc002fsy.1_Missense_Mutation_p.S373G|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	373	Extracellular (Potential).|EGF-like 6.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TAGCCGGCACTGCAGACACAG	0.632													C	1543228	T	C	1543228	3	2	257	1	0	0	0	0	1	0	0	0	13883	1580	55	3	1399	3	SCARF1	17	1543228	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4524	1543228	79651982	1449	128381											
PRPF8	10594	broad.mit.edu	37	chr17	1562781	1562781	+	Frame_Shift_Del	DEL	C	C	-													aatgtcgtgggaatcatagtCcccccagcgcaactggatgt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1562780_1562780TC>T	uc002fte.3	-	31	5123	c.5009_5009GA>A	c.(5008-5010)gacfs	p.D1670fs		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1670	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein 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)		GGAATCATAGTCCCCCCAGCG	0.532													-	1562781	C	-	1562781	7	5	257	1	0	1	0	1	0	0	0	0	12575	855	30	0	2047	0	PRPF8	17	1562781	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	19553	1562781	79632429	1450	128382											
RPA1	6117	broad.mit.edu	37	chr17	1798335	1798335	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagaagttttccagaaTgccaacttccgatctttcat	6	9	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1798335T>C	uc002fto.2	+	16	1807	c.1692T>C	c.(1690-1692)AAT>AAC	p.N564N		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	564					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				0						TTTTCCAGAATGCCAACTTCC	0.443								NER					C	1798335	T	C	1798335	2	2	257	1	0	0	0	0	0	0	0	1	13536	1461	51	3		3	RPA1	17	1798335	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	235554	1798335	79396875	1451	128383											
DPH1	1801	broad.mit.edu	37	chr17	1944878	1944878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaccacggccaggaccGccgtccccacgccccgggcc	13	20	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1944878G>A	uc002fts.2	+	11	1223	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.R386H|DPH1_uc010cjx.2_Missense_Mutation_p.R262H|DPH1_uc010vqs.1_Missense_Mutation_p.R412H|DPH1_uc002ftu.2_Missense_Mutation_p.R158H|DPH1_uc002ftv.2_Missense_Mutation_p.R158H|DPH1_uc002ftw.2_Missense_Mutation_p.R130H|OVCA2_uc002ftx.2_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	diptheria toxin resistance protein required for	402					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				pancreas(1)	1						GGCCAGGACCGCCGTCCCCAc	0.612													A	1944878	G	A	1944878	3	1	257	1	0	0	0	0	1	0	0	0	4719	1087	38	1	1247	1	DPH1	17	1944878	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	146543	1944878	79250332	1452	128384											
SGSM2	9905	broad.mit.edu	37	chr17	2265420	2265420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaaccctcaggggtcaGccaggaggccctgcggagac	15	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:2265420G>A	uc002fun.3	+	4	489	c.314G>A	c.(313-315)AGC>AAC	p.S105N	SGSM2_uc002fum.3_Missense_Mutation_p.S105N|SGSM2_uc010vqw.1_Missense_Mutation_p.S105N	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	105	RUN.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCAGGGGTCAGCCAGGAGGCC	0.652													A	2265420	G	A	2265420	3	1	257	1	0	0	0	0	1	0	0	0	14223	971	34	2	328	2	SGSM2	17	2265420	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	320542	2265420	78929790	1453	128385											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2583573	2583573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaagaacaagcgatgcaTgaagaccctcaatgcgcatg	9	10	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:2583573T>C	uc002fuw.3	+	10	1686	c.1118T>C	c.(1117-1119)ATG>ACG	p.M373T	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Missense_Mutation_p.M168T	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	373	Interaction with dynein and dynactin.|Interaction with DCX.|WD 6.				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			skin(1)	1						AAGCGATGCATGAAGACCCTC	0.473													C	2583573	T	C	2583573	3	2	257	1	0	0	0	0	1	0	0	0	11384	1464	51	3	1152	3	PAFAH1B1	17	2583573	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	318153	2583573	78611637	1454	128386											
P2RX1	5023	broad.mit.edu	37	chr17	3819462	3819462	+	Frame_Shift_Del	DEL	G	G	-													attacgcaccagcaccatgcGgggggtgtcatactcgaaga					rs35715771		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3819461_3819461CG>C	uc002fww.3	-	0	500	c.59_59CG>G	c.(58-60)cgcfs	p.R20fs	P2RX1_uc010ckm.1_5'UTR	NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	20					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGCACCATGCGGGGGGTGTC	0.652													-	3819462	G	-	3819462	7	5	257	1	0	1	0	1	0	0	0	0	11339	1116	39	0	1189	0	P2RX1	17	3819462	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1235889	3819462	77375748	1455	128387											
ATP2A3	489	broad.mit.edu	37	chr17	3854680	3854680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcactctcggcgttgcGttcctgcagaatagaaggcc	13	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3854680G>A	uc002fxb.1	-	5	479	c.328C>T	c.(328-330)CGC>TGC	p.R110C	ATP2A3_uc002fwx.1_Missense_Mutation_p.R110C|ATP2A3_uc002fwy.1_Missense_Mutation_p.R110C|ATP2A3_uc002fwz.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxa.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxc.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxd.1_Missense_Mutation_p.R110C	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	110	Helical; Name=2; (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCGGCGTTGCGTTCCTGCAGA	0.652													A	3854680	G	A	3854680	3	1	257	1	0	0	0	0	1	0	0	0	1138	1145	40	1	2950	1	ATP2A3	17	3854680	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	35218	3854680	77340530	1456	128388											
ZZEF1	23140	broad.mit.edu	37	chr17	3992073	3992073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagtgtgcacaggtgaCgctctgttctgcttctgctc	11	12	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3992073C>T	uc002fxe.2	-	13	2204	c.2140G>A	c.(2140-2142)GTC>ATC	p.V714I	ZZEF1_uc002fxk.1_Missense_Mutation_p.V714I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	714							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCACAGGTGACGCTCTGTTCT	0.587													T	3992073	C	T	3992073	3	4	257	1	0	0	0	0	1	0	0	0	18252	536	19	1	6917	1	ZZEF1	17	3992073	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	137393	3992073	77203137	1457	128389											
ZZEF1	23140	broad.mit.edu	37	chr17	3992159	3992159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctctgctgactcctgaCgggtgcagaggaacttcacc	12	13	2	3	rs80233645	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3992159C>T	uc002fxe.2	-	13	2118	c.2054G>A	c.(2053-2055)CGT>CAT	p.R685H	ZZEF1_uc002fxk.1_Missense_Mutation_p.R685H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	685							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGACTCCTGACGGGTGCAGAG	0.502													T	3992159	C	T	3992159	3	4	257	1	0	0	0	0	1	0	0	0	18252	536	19	1	7003	1	ZZEF1	17	3992159	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	86	3992159	77203051	1458	128390											
MINK1	50488	broad.mit.edu	37	chr17	4796056	4796056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcactggagcggaaccgCgtgggaggtatgtgagccag	18	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:4796056C>T	uc010vsl.1	+	19	2500	c.2304C>T	c.(2302-2304)CGC>CGT	p.R768R	MINK1_uc010vsk.1_Silent_p.R731R|MINK1_uc010vsm.1_Silent_p.R748R|MINK1_uc010vsn.1_Silent_p.R731R|MINK1_uc010vso.1_Silent_p.R676R|MINK1_uc010vsp.1_Silent_p.R221R	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	768					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						AGCGGAACCGCGTGGGAGGTA	0.677													T	4796056	C	T	4796056	2	4	257	1	0	0	0	0	0	0	0	1	9587	755	27	1		1	MINK1	17	4796056	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	803897	4796056	76399154	1459	128391											
USP6	9098	broad.mit.edu	37	chr17	5042837	5042837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtggaagtcaatgcccCggctcccaacggacctggat	13	12	1	0	rs61745111	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:5042837C>T	uc002gau.1	+	22	3596	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W	USP6_uc002gav.1_Missense_Mutation_p.R456W|USP6_uc010ckz.1_Missense_Mutation_p.R139W|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	456					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	p.R456W(1)		skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GTCAATGCCCCGGCTCCCAAC	0.612			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								T	5042837	C	T	5042837	3	4	257	1	0	0	0	0	1	0	0	0	17083	643	23	1	1416	1	USP6	17	5042837	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	246781	5042837	76152373	1460	128392											
KIAA0753	9851	broad.mit.edu	37	chr17	6493254	6493254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctgttgagaatcttcGgctagggagagaagaggggc	15	6	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:6493254G>A	uc002gde.3	-	18	2990	c.2631C>T	c.(2629-2631)GCC>GCT	p.A877A	KIAA0753_uc010vtd.1_Silent_p.A333A|KIAA0753_uc010clo.2_Silent_p.A578A|KIAA0753_uc010vte.1_Silent_p.A578A	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	877						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GAGAATCTTCGGCTAGGGAGA	0.488													A	6493254	G	A	6493254	2	1	257	1	0	0	0	0	0	0	0	1	8191	1103	39	1		1	KIAA0753	17	6493254	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1450417	6493254	74701956	1461	128393											
FBXO39	162517	broad.mit.edu	37	chr17	6690225	6690225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgttagttttgtggagCggatcctgaagagtcagaaa	13	4	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:6690225C>T	uc010vtg.1	+	3	1270	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	FBXO39_uc010cls.1_RNA	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	384										ovary(1)|skin(1)	2						TTTTGTGGAGCGGATCCTGAA	0.522													T	6690225	C	T	6690225	3	4	257	1	0	0	0	0	1	0	0	0	5747	759	27	1	1156	1	FBXO39	17	6690225	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	196971	6690225	74504985	1462	128394											
C17orf74	201243	broad.mit.edu	37	chr17	7329861	7329861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggacccggattcctAcctggaggaggaggacaacc	14	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:7329861A>G	uc002ggw.2	+	3	624	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	184						integral to membrane					0		Prostate(122;0.157)				CCGGATTCCTACCTGGAGGAG	0.582													G	7329861	A	G	7329861	3	3	257	1	0	0	0	0	1	0	0	0	1879	391	14	3	561	3	C17orf74	17	7329861	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	639636	7329861	73865349	1463	128395											
TRAPPC1	58485	broad.mit.edu	37	chr17	7835194	7835194	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccggggccgcccccactcCttgggctcgggttcccggac	13	19	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:7835194C>A	uc002gjo.1	-	1	70	c.-46G>T	c.(-48--44)AAGGA>AATGA		KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank|CNTROB_uc002gjr.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1						ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				GCCCCCACTCCTTGGGCTCGG	0.637													A	7835194	C	A	7835194	1	1	257	1	0	0	0	0	0	0	0	0	16453	696	24	5		5	TRAPPC1	17	7835194	Translation_Start_Site	SNP	C	TCGA-HU-8602-01A-11D-2394-08	505333	7835194	73360016	1464	128396											
PFAS	5198	broad.mit.edu	37	chr17	8167585	8167586	+	Frame_Shift_Ins	INS	-	-	C													agaaatggccagggggatgcINSccccccgacacccctgccaa					rs138697840	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:8167584_8167585G>GC	uc002gkr.3	+	15	1987_1988	c.1846_1847G>GC	c.(1846-1848)gccfs	p.A616fs	PFAS_uc010vuv.2_Frame_Shift_Ins_p.A192fs|PFAS_uc010cnw.1_Frame_Shift_Ins_p.A116fs|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	616					'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)	CCAGGGGGATGCCCCCCCGACA	0.594													C	8167586	-	C	8167585	7	5	257	1	0	1	1	0	0	0	0	0	11754	739	26	0	1905	0	PFAS	17	8167585	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	332391	8167585	73027625	1465	128397											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219438	8219438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctactgcccttccagcGcatcacccggctgcgcatgc	9	19	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:8219438G>A	uc002glc.2	+	9	1797	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	ARHGEF15_uc002gld.2_Missense_Mutation_p.R559H|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R448H	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	559	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCCTTCCAGCGCATCACCCGG	0.672													A	8219438	G	A	8219438	3	1	257	1	0	0	0	0	1	0	0	0	898	1087	38	1	1706	1	ARHGEF15	17	8219438	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	51853	8219438	72975772	1466	128398											
MYH10	4628	broad.mit.edu	37	chr17	8455425	8455425	+	Frame_Shift_Del	DEL	T	T	-													atatgaaaagtacgttcatcTtttgcttgacgaacagcacg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:8455424_8455424CT>C	uc002glm.3	-	8	955	c.859_859AG>G	c.(859-861)gatfs	p.D287fs	MYH10_uc002gll.3_Frame_Shift_Del_p.D277fs|MYH10_uc010cnx.3_Frame_Shift_Del_p.D286fs|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	277	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	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|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						GTACGTTCATCTTTTGCTTGA	0.323													-	8455425	T	-	8455425	7	5	257	1	0	1	0	1	0	0	0	0	10030	1606	56	0	5238	0	MYH10	17	8455425	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	235987	8455425	72739785	1467	128399											
MYH3	4621	broad.mit.edu	37	chr17	10549160	10549160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccaggatgtcaatggcGctctggcatggaaagggcag	15	9	2	0	rs142547724	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:10549160G>A	uc002gmq.1	-	11	1082	c.1005C>T	c.(1003-1005)AGC>AGT	p.S335S		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	335	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TGTCAATGGCGCTCTGGCATG	0.562											OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10549160	G	A	10549160	2	1	257	1	0	0	0	0	0	0	0	1	10036	1078	38	1		1	MYH3	17	10549160	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2093735	10549160	70646050	1468	128400											
MYH3	4621	broad.mit.edu	37	chr17	10555836	10555837	+	Frame_Shift_Ins	INS	-	-	G													cttcgatcctgtcgaacttgINSggggggttcatggcgtacac					rs139160750		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:10555835_10555836T>TG	uc002gmq.2	-	3	337_338	c.249_250A>CA	c.(247-252)cccaagfs	p.P83fs		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	83	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K84I(1)|p.K84K(1)|p.K84M(1)		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						CTGTCGAACTTGGGGGGGTTCA	0.495													G	10555837	-	G	10555836	7	5	257	1	0	1	1	0	0	0	0	0	10036	1335	47	0	5725	0	MYH3	17	10555836	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	6676	10555836	70639374	1469	128401											
DNAH9	1770	broad.mit.edu	37	chr17	11827202	11827202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcaaggacaggaagtgGtggctgaggctgcgctggac	20	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:11827202G>A	uc002gne.2	+	62	11889	c.11821G>A	c.(11821-11823)GTG>ATG	p.V3941M	DNAH9_uc010coo.2_Missense_Mutation_p.V3235M|DNAH9_uc002gnf.2_Missense_Mutation_p.V253M|DNAH9_uc010vvh.1_Missense_Mutation_p.V294M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3941	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		ACAGGAAGTGGTGGCTGAGGC	0.478													A	11827202	G	A	11827202	3	1	257	1	0	0	0	0	1	0	0	0	4608	1261	44	4	12067	4	DNAH9	17	11827202	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1271366	11827202	69368008	1470	128402											
RAI1	10743	broad.mit.edu	37	chr17	17700893	17700893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgcctcactcggggccGggccaagaacaccacctctt	11	16	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:17700893G>A	uc002grm.2	+	3	5100	c.4631G>A	c.(4630-4632)CGG>CAG	p.R1544Q	RAI1_uc002grn.1_Missense_Mutation_p.R1544Q	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1544						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		ACTCGGGGCCGGGCCAAGAAC	0.652													A	17700893	G	A	17700893	3	1	257	1	0	0	0	0	1	0	0	0	13007	1116	39	1	4633	1	RAI1	17	17700893	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5873691	17700893	63494317	1471	128403											
RAI1	10743	broad.mit.edu	37	chr17	17707165	17707165	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgccagcgatgcaggTacgagcccgcccaggaacag	14	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:17707165T>C	uc002grm.2	+	4	6128	c.5659_splice	c.e4+2	p.G1887_splice		NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1							cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCGATGCAGGTACGAGCCCGC	0.632													C	17707165	T	C	17707165	5	2	257	1	0	0	0	0	0	0	1	0	13007	1652	57	3	5667	3	RAI1	17	17707165	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	6272	17707165	63488045	1472	128404											
CYTSB	92521	broad.mit.edu	37	chr17	20135668	20135668	+	Frame_Shift_Del	DEL	G	G	-													gcccggttgcagaaggagctGggggatgtgcagggccacgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:20135668delG	uc002gwq.2	+	7	2446	c.2301delG	c.(2299-2301)CTGfs	p.L767fs	CYTSB_uc010cqx.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gwr.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gws.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gwv.2_Frame_Shift_Del_p.L686fs|CYTSB_uc010vzf.1_Frame_Shift_Del_p.L107fs|CYTSB_uc002gww.2_Frame_Shift_Del_p.L543fs|CYTSB_uc002gwt.2_Frame_Shift_Del_p.L686fs|CYTSB_uc002gwu.2_Frame_Shift_Del_p.L686fs	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	767	Potential.					nucleus					0						AGAAGGAGCTGGGGGATGTGC	0.612													-	20135668	G	-	20135668	7	5	257	1	0	1	0	1	0	0	0	0	4210	1335	47	0	2367	0	CYTSB	17	20135668	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	2428503	20135668	61059542	1473	128405											
CYTSB	92521	broad.mit.edu	37	chr17	20149335	20149335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaacacccccagagtcGgcaaccaccgttaagtcact	6	17	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:20149335G>A	uc002gwq.2	+	8	2593	c.2448G>A	c.(2446-2448)TCG>TCA	p.S816S	CYTSB_uc002gws.2_Silent_p.S816S|CYTSB_uc002gwv.2_Silent_p.S735S|CYTSB_uc010vzf.1_Silent_p.S156S|CYTSB_uc002gww.2_Silent_p.S592S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	816						nucleus					0						CCCCAGAGTCGGCAACCACCG	0.493													A	20149335	G	A	20149335	2	1	257	1	0	0	0	0	0	0	0	1	4210	1103	39	1		1	CYTSB	17	20149335	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	13667	20149335	61045875	1474	128406											
TMEM97	27346	broad.mit.edu	37	chr17	26653775	26653775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttttaattttcatgttgCggagcccctactacaagtat	6	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26653775C>T	uc002hat.2	+	3	632	c.487C>T	c.(487-489)CGG>TGG	p.R163W		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	163	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding				0	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTTCATGTTGCGGAGCCCCTA	0.438													T	26653775	C	T	26653775	3	4	257	1	0	0	0	0	1	0	0	0	16221	759	27	1	497	1	TMEM97	17	26653775	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	6504440	26653775	54541435	1475	128407											
VTN	7448	broad.mit.edu	37	chr17	26696686	26696686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggcgcccacctcaggcGcaggggcctcttcctcaggt	13	15	3	1	rs144093348		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26696686G>A	uc002hbc.2	-	3	520	c.371C>T	c.(370-372)GCG>GTG	p.A124V	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	124					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CACCTCAGGCGCAGGGGCCTC	0.627													A	26696686	G	A	26696686	3	1	257	1	0	0	0	0	1	0	0	0	17234	1087	38	1	1089	1	VTN	17	26696686	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	42911	26696686	54498524	1476	128408											
FOXN1	8456	broad.mit.edu	37	chr17	26864250	26864250	+	Frame_Shift_Del	DEL	C	C	-													cagccaccacctcactgcttCccccctgggccctgtctgac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26864249_26864249TC>T	uc010crm.3	+	8	1940	c.1742_1742TC>T	c.(1741-1743)ttcfs	p.F581fs	FOXN1_uc002hbj.3_Frame_Shift_Del_p.F581fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	581					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTCACTGCTTCCCCCCTGGG	0.647													-	26864250	C	-	26864250	7	5	257	1	0	1	0	1	0	0	0	0	6019	854	30	0	1773	0	FOXN1	17	26864250	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	167564	26864250	54330960	1477	128409											
UNC119	9094	broad.mit.edu	37	chr17	26875065	26875065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggcgtgaactggtagCggacaaagcgcccagcattg	15	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26875065C>T	uc002hbk.2	-	3	460	c.389G>A	c.(388-390)CGC>CAC	p.R130H	UNC119_uc002hbm.2_Missense_Mutation_p.R130H|UNC119_uc002hbl.1_5'Flank	NM_005148	NP_005139	Q13432	U119A_HUMAN	unc119 (C.elegans) homolog isoform a	130					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction					0	Lung NSC(42;0.00431)					GAACTGGTAGCGGACAAAGCG	0.542											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26875065	C	T	26875065	3	4	257	1	0	0	0	0	1	0	0	0	16979	768	27	1	398	1	UNC119	17	26875065	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	10815	26875065	54320145	1478	128410											
MYO18A	399687	broad.mit.edu	37	chr17	27448659	27448659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctagcgccatagcgctggCgcaaggtgtgcaggacgctg	17	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:27448659C>T	uc002hdt.1	-	5	1435	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	MYO18A_uc010wbc.1_5'UTR|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.R426H|MYO18A_uc002hdu.1_Missense_Mutation_p.R426H|MYO18A_uc010wbd.1_Missense_Mutation_p.R95H	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	426	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			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)			ATAGCGCTGGCGCAAGGTGTG	0.637													T	27448659	C	T	27448659	3	4	257	1	0	0	0	0	1	0	0	0	10065	768	27	1	5039	1	MYO18A	17	27448659	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	573594	27448659	53746551	1479	128411											
TP53I13	90313	broad.mit.edu	37	chr17	27898873	27898873	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacagttacctcctctcgtAgcccctggtgctgactgcat	8	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:27898873A>G	uc002hee.2	+	5	351	c.313_splice	c.e5-2	p.P105_splice		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13							cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		CTCCTCTCGTAGCCCCTGGTG	0.602													G	27898873	A	G	27898873	5	3	257	1	0	0	0	0	0	0	1	0	16383	434	15	3	329	3	TP53I13	17	27898873	Splice_Site	SNP	A	TCGA-HU-8602-01A-11D-2394-08	450214	27898873	53296337	1480	128412											
SSH2	85464	broad.mit.edu	37	chr17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-													tgaggacaaatgaatgttctGggggggcttcatcacttttc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:27959374_27959374TG>T	uc002heo.1	-	14	2757	c.2757_2757CA>A	c.(2755-2757)ccafs	p.P919fs	SSH2_uc010wbh.1_Frame_Shift_Del_p.P946fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	919					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						ATGAATGTTCTGGGGGGGCTT	0.478													-	27959375	G	-	27959375	7	5	257	1	0	1	0	1	0	0	0	0	15184	1348	47	0	1519	0	SSH2	17	27959375	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	60502	27959375	53235835	1481	128413											
CPD	1362	broad.mit.edu	37	chr17	28712232	28712232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatggaatcacaaacggCgcacattggtatgatgtgga	12	6	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:28712232C>T	uc002hfb.1	+	2	987	c.972C>T	c.(970-972)GGC>GGT	p.G324G	CPD_uc010wbo.1_Silent_p.G77G|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	324	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TCACAAACGGCGCACATTGGT	0.408													T	28712232	C	T	28712232	2	4	257	1	0	0	0	0	0	0	0	1	3798	755	27	1		1	CPD	17	28712232	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	752857	28712232	52482978	1482	128414											
UTP6	55813	broad.mit.edu	37	chr17	30192396	30192396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttacttaccagaatctgcgGatccaaactctctcaaagct	5	12	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:30192396G>A	uc002hgr.2	-	18	1708	c.1625C>T	c.(1624-1626)TCC>TTC	p.S542F	UTP6_uc002hgq.2_Missense_Mutation_p.S358F|UTP6_uc010cst.2_Missense_Mutation_p.S391F	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	542	HAT 5.				rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGAATCTGCGGATCCAAACTC	0.303													A	30192396	G	A	30192396	3	1	257	1	0	0	0	0	1	0	0	0	17099	1174	41	4	176	4	UTP6	17	30192396	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1480164	30192396	51002814	1483	128415											
UNC45B	146862	broad.mit.edu	37	chr17	33513405	33513405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtcattgcctacaacCtactggcagccgatgctgag	11	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:33513405C>A	uc002hja.2	+	20	2720	c.2623C>A	c.(2623-2625)CTA>ATA	p.L875I	UNC45B_uc002hjb.2_Missense_Mutation_p.L873I|UNC45B_uc002hjc.2_Missense_Mutation_p.L873I|UNC45B_uc010cto.2_Missense_Mutation_p.L794I	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	875					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				TGCCTACAACCTACTGGCAGC	0.597													A	33513405	C	A	33513405	3	1	257	1	0	0	0	0	1	0	0	0	16986	680	24	5	2697	5	UNC45B	17	33513405	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3321009	33513405	47681805	1484	128416											
AMAC1	146861	broad.mit.edu	37	chr17	33520761	33520761	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccacatagcccagggcgGtgtagacacccgtggtcccc	11	17	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:33520761G>C	uc002hjd.2	-	1	652	c.566C>G	c.(565-567)ACC>AGC	p.T189S		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	189	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCCAGGGCGGTGTAGACACC	0.597													C	33520761	G	C	33520761	3	2	257	1	0	0	0	0	1	0	0	0	559	1261	44	5	454	5	AMAC1	17	33520761	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	7356	33520761	47674449	1485	128417											
SLFN11	91607	broad.mit.edu	37	chr17	33689952	33689952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgagtgtgaaggttatcGggcgttggggttggcaaaaa	16	3	0	2	rs142137401		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:33689952G>A	uc010ctp.2	-	4	1317	c.875C>T	c.(874-876)CCG>CTG	p.P292L	SLFN11_uc010ctq.2_Missense_Mutation_p.P292L|SLFN11_uc002hjh.3_Missense_Mutation_p.P292L|SLFN11_uc002hjg.3_Missense_Mutation_p.P292L|SLFN11_uc010ctr.2_Missense_Mutation_p.P292L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	292						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGGTTATCGGGCGTTGGGG	0.418													A	33689952	G	A	33689952	3	1	257	1	0	0	0	0	1	0	0	0	14733	1116	39	1	1846	1	SLFN11	17	33689952	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	169191	33689952	47505258	1486	128418											
MMP28	79148	broad.mit.edu	37	chr17	34106048	34106049	+	Frame_Shift_Ins	INS	-	-	T													gcgcggtccaacacgccgctINSgacaggtagctgggacaccc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:34106047_34106048C>CT	uc002hjy.1	-	2	482_483	c.223_224G>AG	c.(223-225)agcfs	p.S75fs	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Frame_Shift_Ins_p.S75fs	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	75					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAACACGCCGCTGACAGGTAGC	0.624													T	34106049	-	T	34106048	7	5	257	1	0	1	1	0	0	0	0	0	9665	1580	55	0	1376	0	MMP28	17	34106048	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	416096	34106048	47089162	1487	128419											
PIGW	284098	broad.mit.edu	37	chr17	34893363	34893363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgtgtaattaccagtgCgtttactgctattgctattt	7	8	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:34893363C>T	uc002hmy.1	+	2	456	c.413C>T	c.(412-414)GCG>GTG	p.A138V	MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.A138V	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	138	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTACCAGTGCGTTTACTGCT	0.418													T	34893363	C	T	34893363	3	4	257	1	0	0	0	0	1	0	0	0	11902	768	27	1	415	1	PIGW	17	34893363	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	787315	34893363	46301847	1488	128420											
GGNBP2	79893	broad.mit.edu	37	chr17	34942390	34942390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcatttgtaatcatgatgAacacggtaggctcacattaa	9	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:34942390A>G	uc002hnb.2	+	11	1736	c.1487A>G	c.(1486-1488)GAA>GGA	p.E496G	GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.E325G	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	496					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATCATGATGAACACGGTAGG	0.418													G	34942390	A	G	34942390	3	3	257	1	0	0	0	0	1	0	0	0	6359	246	9	3	1525	3	GGNBP2	17	34942390	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	49027	34942390	46252820	1489	128421											
NEUROD2	4761	broad.mit.edu	37	chr17	37761804	37761804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgagtggacgcccccgCgcacagccgacgagccgaag	13	17	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:37761804C>T	uc002hry.2	-	2	1249	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	350					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				0	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)			GACGCCCCCGCGCACAGCCGA	0.602													T	37761804	C	T	37761804	3	4	257	1	0	0	0	0	1	0	0	0	10349	768	27	1	103	1	NEUROD2	17	37761804	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2819414	37761804	43433406	1490	128422											
CSF3	1440	broad.mit.edu	37	chr17	38171995	38171995	+	Frame_Shift_Del	DEL	C	C	-													ctggacagtgcaggaagccaCccccctgggccctgccagct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:38171995delC	uc002htp.2	+	2	132	c.92delC	c.(91-93)ACCfs	p.T31fs	CSF3_uc002hto.2_Frame_Shift_Del_p.T31fs|CSF3_uc002htq.2_Frame_Shift_Del_p.T27fs|CSF3_uc010wep.1_Frame_Shift_Del_p.T27fs	NM_000759	NP_000750	P09919	CSF3_HUMAN	colony stimulating factor 3 isoform a precursor	31					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			ovary(1)	1	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGAAGCCACCCCCCTGGGC	0.642													-	38171995	C	-	38171995	7	5	257	1	0	1	0	1	0	0	0	0	3936	507	18	0	98	0	CSF3	17	38171995	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	410191	38171995	43023215	1491	128423											
KRT33A	3883	broad.mit.edu	37	chr17	39506948	39506948	+	Frame_Shift_Del	DEL	G	G	-													agggtgcagccgtggcagctGgggggcacacagggccggga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39506947_39506947TG>T	uc002hwk.1	-	0	110	c.73_73CA>A	c.(73-75)agcfs	p.S25fs		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	25	Head.					intermediate filament	protein binding|structural molecule activity	p.P24T(1)		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)				CCGTGGCAGCTGGGGGGCACA	0.642													-	39506948	G	-	39506948	7	5	257	1	0	1	0	1	0	0	0	0	8469	1335	47	0	1170	0	KRT33A	17	39506948	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1334953	39506948	41688262	1492	128424											
KRT38	8687	broad.mit.edu	37	chr17	39594763	39594763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgtgctgggcttggcGctccacctccagggcattca	13	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39594763G>A	uc002hwq.1	-	5	1423	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	334	Coil 2.|Rod.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				TGGGCTTGGCGCTCCACCTCC	0.577													A	39594763	G	A	39594763	3	1	257	1	0	0	0	0	1	0	0	0	8475	1087	38	1	382	1	KRT38	17	39594763	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	87815	39594763	41600447	1493	128425											
KRT32	3882	broad.mit.edu	37	chr17	39623442	39623442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaccgaaggcaggcAtgccatgggctggcagacat	15	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39623442A>G	uc002hwr.2	-	1	197	c.136T>C	c.(136-138)TGC>CGC	p.C46R		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	46	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				GAAGGCAGGCATGCCATGGGC	0.652													G	39623442	A	G	39623442	3	3	257	1	0	0	0	0	1	0	0	0	8468	217	8	3	1238	3	KRT32	17	39623442	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	28679	39623442	41571768	1494	128426											
KRT36	8689	broad.mit.edu	37	chr17	39643875	39643875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggttattctccaccaGggcctcgtactggcatctca	9	14	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39643875G>T	uc002hwt.2	-	4	814	c.814C>A	c.(814-816)CTG>ATG	p.L272M		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	272	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TTCTCCACCAGGGCCTCGTAC	0.612													T	39643875	G	T	39643875	3	4	257	1	0	0	0	0	1	0	0	0	8473	991	35	5	605	5	KRT36	17	39643875	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	20433	39643875	41551335	1495	128427											
ATP6V0A1	535	broad.mit.edu	37	chr17	40660596	40660596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtgttttcaagccttccGaggacgaagtggtaagatga	12	6	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:40660596G>A	uc002hzr.2	+	19	2286	c.2119G>A	c.(2119-2121)GAG>AAG	p.E707K	ATP6V0A1_uc002hzq.2_Intron|ATP6V0A1_uc002hzs.2_Intron|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.E664K|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.E353K|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.E566K|ATP6V0A1_uc002hzt.2_Intron	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	707	Cytoplasmic (Potential).				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			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAAGCCTTCCGAGGACGAAGT	0.517													A	40660596	G	A	40660596	3	1	257	1	0	0	0	0	1	0	0	0	1168	1059	37	1	2210	1	ATP6V0A1	17	40660596	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1016721	40660596	40534614	1496	128428											
CNTNAP1	8506	broad.mit.edu	37	chr17	40845418	40845418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccaatgcctctgagggTacctcacccaactgcacagg	10	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:40845418T>C	uc002iay.2	+	18	3072	c.2856T>C	c.(2854-2856)GGT>GGC	p.G952G	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	952	Laminin G-like 3.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTCTGAGGGTACCTCACCCA	0.607													C	40845418	T	C	40845418	2	2	257	1	0	0	0	0	0	0	0	1	3646	1625	57	3		3	CNTNAP1	17	40845418	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	184822	40845418	40349792	1497	128429											
WNK4	65266	broad.mit.edu	37	chr17	40948206	40948206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgaagatttgtacagccGgctggggaagcagcccccac	12	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:40948206G>A	uc002ibj.2	+	17	3518	c.3497G>A	c.(3496-3498)CGG>CAG	p.R1166Q	WNK4_uc010wgx.1_Missense_Mutation_p.R830Q|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1166					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGTACAGCCGGCTGGGGAAG	0.597													A	40948206	G	A	40948206	3	1	257	1	0	0	0	0	1	0	0	0	17377	1116	39	1	3563	1	WNK4	17	40948206	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	102788	40948206	40247004	1498	128430											
DHX8	1659	broad.mit.edu	37	chr17	41570258	41570258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaagaccggaaggaccGggacaaatatggagagcgga	14	10	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:41570258G>A	uc002idu.1	+	6	786	c.713G>A	c.(712-714)CGG>CAG	p.R238Q	DHX8_uc010wif.1_Missense_Mutation_p.R147Q|DHX8_uc010wig.1_Missense_Mutation_p.R238Q	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	238						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CGGAAGGACCGGGACAAATAT	0.537													A	41570258	G	A	41570258	3	1	257	1	0	0	0	0	1	0	0	0	4515	1116	39	1	735	1	DHX8	17	41570258	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	622052	41570258	39624952	1499	128431											
PPY	5539	broad.mit.edu	37	chr17	42018946	42018946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggggctccctgggcaCccagcagtggctgtagtaac	14	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:42018946C>T	uc002iep.2	-	2	122	c.77G>A	c.(76-78)GGT>GAT	p.G26D		NM_002722	NP_002713	P01298	PAHO_HUMAN	pancreatic polypeptide preproprotein	26					digestion|protein secretion	extracellular region	hormone activity				0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCCTGGGCACCCAGCAGTGG	0.612													T	42018946	C	T	42018946	3	4	257	1	0	0	0	0	1	0	0	0	12415	507	18	4	222	4	PPY	17	42018946	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	448688	42018946	39176264	1500	128432											
GPATCH8	23131	broad.mit.edu	37	chr17	42512489	42512489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctacttctaggacacggcGccgttcggtagcatcttcag	10	12	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:42512489G>A	uc002igw.1	-	5	356	c.292C>T	c.(292-294)CGC>TGC	p.R98C	GPATCH8_uc002igv.1_Missense_Mutation_p.R20C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R20C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	98	Potential.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGACACGGCGCCGTTCGGTA	0.383													A	42512489	G	A	42512489	3	1	257	1	0	0	0	0	1	0	0	0	6594	1087	38	1	4232	1	GPATCH8	17	42512489	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	493543	42512489	38682721	1501	128433											
FMNL1	752	broad.mit.edu	37	chr17	43311489	43311489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaactcagagaaaaacaAgcccctggagcagtctgtgg	10	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:43311489A>G	uc002iin.2	+	6	736	c.536A>G	c.(535-537)AAG>AGG	p.K179R	FMNL1_uc002iio.2_Missense_Mutation_p.K124R	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	179	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GAGAAAAACAAGCCCCTGGAG	0.587													G	43311489	A	G	43311489	3	3	257	1	0	0	0	0	1	0	0	0	5951	72	3	3	558	3	FMNL1	17	43311489	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	799000	43311489	37883721	1502	128434											
PLEKHM1	9842	broad.mit.edu	37	chr17	43552823	43552823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggccaatggggtgagcGtccactcatttaagatggca	13	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:43552823G>A	uc002ija.2	-	4	736	c.566C>T	c.(565-567)ACG>ATG	p.T189M	PLEKHM1_uc010wjm.1_Missense_Mutation_p.T161M|PLEKHM1_uc002ijb.2_Translation_Start_Site|PLEKHM1_uc010wjn.1_Missense_Mutation_p.T138M|hsa-mir-4315-1|MI0015844_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	189					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					TGGGGTGAGCGTCCACTCATT	0.567													A	43552823	G	A	43552823	3	1	257	1	0	0	0	0	1	0	0	0	12080	1145	40	1	2640	1	PLEKHM1	17	43552823	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	241334	43552823	37642387	1503	128435											
MAPT	4137	broad.mit.edu	37	chr17	44101483	44101483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatggtagactcgccccaGctcgccacgctagctgacga	11	15	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:44101483G>A	uc002ijr.3	+	14	2543	c.2223G>A	c.(2221-2223)CAG>CAA	p.Q741Q	MAPT_uc010dau.2_Silent_p.Q759Q|MAPT_uc002ijs.3_Silent_p.Q424Q|MAPT_uc002ijx.3_Silent_p.Q395Q|MAPT_uc002ijt.3_Silent_p.Q366Q|MAPT_uc002iju.3_Silent_p.Q335Q|MAPT_uc002ijv.3_Silent_p.Q342Q	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	741					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			pancreas(1)	1		Melanoma(429;0.216)				ACTCGCCCCAGCTCGCCACGC	0.592													A	44101483	G	A	44101483	2	1	257	1	0	0	0	0	0	0	0	1	9297	962	34	2		2	MAPT	17	44101483	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	548660	44101483	37093727	1504	128436											
C17orf57	124989	broad.mit.edu	37	chr17	45421629	45421629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgttcacaagacttcatcAcctctttgtacatcttctgc	5	13	6	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:45421629A>G	uc002iln.2	+	7	816	c.405A>G	c.(403-405)TCA>TCG	p.S135S	ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Silent_p.S135S|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Silent_p.S135S	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	135							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						AGACTTCATCACCTCTTTGTA	0.383													G	45421629	A	G	45421629	2	3	257	1	0	0	0	0	0	0	0	1	1865	146	6	3		3	C17orf57	17	45421629	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1320146	45421629	35773581	1505	128437											
MRPL10	124995	broad.mit.edu	37	chr17	45904455	45904455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtttccgcagctggtgtCgcataagaagcttgtcctct	11	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:45904455C>T	uc002ilz.2	-	3	364	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	MRPL10_uc010wky.1_Missense_Mutation_p.R74Q|MRPL10_uc002ily.2_Missense_Mutation_p.R123Q	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	113					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1						CAGCTGGTGTCGCATAAGAAG	0.577													T	45904455	C	T	45904455	3	4	257	1	0	0	0	0	1	0	0	0	9775	884	31	1	459	1	MRPL10	17	45904455	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	482826	45904455	35290755	1506	128438											
SKAP1	8631	broad.mit.edu	37	chr17	46257474	46257474	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaggctcttttatcccCacactcccaggcaagatagt	7	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:46257474C>A	uc002ini.1	-	9	880	c.768G>T	c.(766-768)GTG>GTT	p.V256V	SKAP1_uc002inj.1_Silent_p.V256V|SKAP1_uc010dbd.1_Silent_p.V162V|SKAP1_uc010dbe.1_Silent_p.V256V	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	256					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						CTTTTATCCCCACACTCCCAG	0.373													A	46257474	C	A	46257474	2	1	257	1	0	0	0	0	0	0	0	1	14355	581	21	5		5	SKAP1	17	46257474	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	353019	46257474	34937736	1507	128439											
COL1A1	1277	broad.mit.edu	37	chr17	48267440	48267440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcatcaccaggttcGcctttagcaccaggttggcc	10	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48267440G>A	uc002iqm.2	-	36	2607	c.2481C>T	c.(2479-2481)GGC>GGT	p.G827G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	827	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(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	CACCAGGTTCGCCTTTAGCAC	0.652			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						A	48267440	G	A	48267440	2	1	257	1	0	0	0	0	0	0	0	1	3677	1074	38	1		1	COL1A1	17	48267440	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2009966	48267440	32927770	1508	128440											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	257	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	166527	48433967	32761243	1509	128441											
MYCBPAP	84073	broad.mit.edu	37	chr17	48603286	48603286	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcctgcaccaactgtgGcgccagtacatgaccctgcc	9	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48603286G>A	uc010wmr.1	+	14	2118	c.1956G>A	c.(1954-1956)TGG>TGA	p.W652*	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	615					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACCAACTGTGGCGCCAGTACA	0.592													A	48603286	G	A	48603286	4	1	257	1	0	0	0	0	0	1	0	0	10019	1212	42	2	2010	2	MYCBPAP	17	48603286	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	169319	48603286	32591924	1510	128442											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917254	48917254	+	Frame_Shift_Del	DEL	C	C	-													caccacagcctccccagagaCccctgagctggacatggcgg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48917253_48917253AC>A	uc002isv.4	+	1	1298	c.604_604AC>A	c.(604-606)accfs	p.T202fs	WFIKKN2_uc010dbu.3_Frame_Shift_Del_p.T109fs	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	202						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)			CTCCCCAGAGACCCCTGAGCT	0.632													-	48917254	C	-	48917254	7	5	257	1	0	1	0	1	0	0	0	0	17356	507	18	0	611	0	WFIKKN2	17	48917254	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	313968	48917254	32277956	1511	128443											
HLF	3131	broad.mit.edu	37	chr17	53342893	53342893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatcccacctttatcccGcctccctacggcgtgctcag	7	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:53342893G>A	uc002iug.1	+	1	573	c.48G>A	c.(46-48)CCG>CCA	p.P16P	HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	16					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						CCTTTATCCCGCCTCCCTACG	0.572			T	TCF3	ALL								A	53342893	G	A	53342893	2	1	257	1	0	0	0	0	0	0	0	1	7214	1074	38	1		1	HLF	17	53342893	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4425639	53342893	27852317	1512	128444											
SCPEP1	59342	broad.mit.edu	37	chr17	55058503	55058503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggattatgtgacggtccGcaaggatgcctacatgttct	12	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:55058503G>A	uc002iuv.3	+	2	190	c.137G>A	c.(136-138)CGC>CAC	p.R46H	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_5'UTR	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	46					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					GTGACGGTCCGCAAGGATGCC	0.498													A	55058503	G	A	55058503	3	1	257	1	0	0	0	0	1	0	0	0	13935	1087	38	1	143	1	SCPEP1	17	55058503	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1715610	55058503	26136707	1513	128445											
MKS1	54903	broad.mit.edu	37	chr17	56288385	56288385	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcacctgggacagtcTaaggtgaagagaagtgggaa	18	5	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:56288385T>C	uc002ivr.1	-	10	991	c.916_splice	c.e10-1	p.T306_splice	MKS1_uc010wnq.1_Splice_Site_p.T103_splice|MKS1_uc002ivs.1_Splice_Site_p.T306_splice	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1						cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						TGGGACAGTCTAAGGTGAAGA	0.537													C	56288385	T	C	56288385	5	2	257	1	0	0	0	0	0	0	1	0	9609	1536	53	3	801	3	MKS1	17	56288385	Splice_Site	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1229882	56288385	24906825	1514	128446											
C17orf71	55181	broad.mit.edu	37	chr17	57290863	57290863	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcccttatatattctgtcAtcctctcaaggtagagggct	8	10	3	1	rs140931963		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:57290863A>G	uc002ixi.2	+	3	2721	c.2679A>G	c.(2677-2679)TCA>TCG	p.S893S		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	893					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATATTCTGTCATCCTCTCAAG	0.428													G	57290863	A	G	57290863	2	3	257	1	0	0	0	0	0	0	0	1	1878	204	8	3		3	C17orf71	17	57290863	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1002478	57290863	23904347	1515	128447											
DHX40	79665	broad.mit.edu	37	chr17	57654713	57654713	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcaacgtctttgacaAtagatggaatcaggtaaaac	8	7	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:57654713A>T	uc002ixn.1	+	8	1207	c.1060A>T	c.(1060-1062)ATA>TTA	p.I354L	DHX40_uc010woe.1_Missense_Mutation_p.I277L|DHX40_uc002ixo.1_Missense_Mutation_p.I255L	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	354	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTCTTTGACAATAGATGGAAT	0.353													T	57654713	A	T	57654713	3	4	257	1	0	0	0	0	1	0	0	0	4512	101	4	5	1090	5	DHX40	17	57654713	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	363850	57654713	23540497	1516	128448											
STRADA	92335	broad.mit.edu	37	chr17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-													cgagtcaccgttggagggccGgggggtgctggtggtcaggc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:61781804delG	uc002jbm.2	-	11	1156	c.997delC	c.(997-999)CGGfs	p.R333fs	STRADA_uc002jbn.2_Frame_Shift_Del_p.R275fs|STRADA_uc002jbo.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbp.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbq.2_Frame_Shift_Del_p.R275fs|STRADA_uc010wpq.1_Frame_Shift_Del_p.R289fs|STRADA_uc010wpr.1_Frame_Shift_Del_p.R304fs|STRADA_uc010ddw.2_Frame_Shift_Del_p.R304fs|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	333	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			ovary(1)	1						TTGGAGGGCCGGGGGGTGCTG	0.647													-	61781804	G	-	61781804	7	5	257	1	0	1	0	1	0	0	0	0	15323	1115	39	0	368	0	STRADA	17	61781804	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	4127091	61781804	19413406	1517	128449											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856347	62856347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcgagttttgtgaaagCggtatttttttctggaatgt	14	3	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:62856347C>T	uc002jey.2	-	11	4448	c.3917G>A	c.(3916-3918)CGC>CAC	p.R1306H	LRRC37A3_uc010wqg.1_Missense_Mutation_p.R424H|LRRC37A3_uc002jex.1_Missense_Mutation_p.R283H|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R344H|LRRC37A3_uc010dek.1_Missense_Mutation_p.R312H	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1306	Extracellular (Potential).					integral to membrane					0						TTTGTGAAAGCGGTATTTTTT	0.403													T	62856347	C	T	62856347	3	4	257	1	0	0	0	0	1	0	0	0	8993	768	27	1	1003	1	LRRC37A3	17	62856347	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1074543	62856347	18338863	1518	128450											
CACNG1	786	broad.mit.edu	37	chr17	65050148	65050148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcattttaaccccgGcgagagctcggagatcttcg	11	12	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:65050148G>A	uc002jfu.2	+	2	337	c.266G>A	c.(265-267)GGC>GAC	p.G89D		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	89					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	TTTAACCCCGGCGAGAGCTCG	0.557													A	65050148	G	A	65050148	3	1	257	1	0	0	0	0	1	0	0	0	2556	1203	42	2	272	2	CACNG1	17	65050148	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2193801	65050148	16145062	1519	128451											
BPTF	2186	broad.mit.edu	37	chr17	65900946	65900946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaattacagaaagtcGttagaaggaagtaagtaatt	10	2	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:65900946G>A	uc002jgf.2	+	9	2863	c.2802G>A	c.(2800-2802)TCG>TCA	p.S934S	BPTF_uc002jge.2_Silent_p.S1060S|BPTF_uc010wqm.1_Silent_p.S997S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1060					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			ovary(2)|skin(2)	4	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)			ACAGAAAGTCGTTAGAAGGAA	0.303													A	65900946	G	A	65900946	2	1	257	1	0	0	0	0	0	0	0	1	1495	1132	40	1		1	BPTF	17	65900946	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	850798	65900946	15294264	1520	128452											
ABCA10	10349	broad.mit.edu	37	chr17	67178331	67178331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatttgaataagctccGtgaagttaaaaattcccata	5	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:67178331G>A	uc010dfa.1	-	23	3611	c.2732C>T	c.(2731-2733)ACG>ATG	p.T911M	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T512M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	911					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AATAAGCTCCGTGAAGTTAAA	0.294													A	67178331	G	A	67178331	3	1	257	1	0	0	0	0	1	0	0	0	29	1145	40	1	1971	1	ABCA10	17	67178331	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1277385	67178331	14016879	1521	128453											
KCNJ2	3759	broad.mit.edu	37	chr17	68171276	68171276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaaatggctttgggaaCgggaagagtaaagtccacac	13	7	0	1	rs67120636	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:68171276C>T	uc010dfg.2	+	2	497	c.96C>T	c.(94-96)AAC>AAT	p.N32N	KCNJ2_uc002jir.2_Silent_p.N32N	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	32	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					GCTTTGGGAACGGGAAGAGTA	0.517													T	68171276	C	T	68171276	2	4	257	1	0	0	0	0	0	0	0	1	8051	535	19	1		1	KCNJ2	17	68171276	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	992945	68171276	13023934	1522	128454											
FDXR	2232	broad.mit.edu	37	chr17	72860081	72860081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttggagtcaaagggcaCgcttgggtcgacagggcggc	17	9	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72860081C>T	uc002jly.2	-	10	1198	c.1111G>A	c.(1111-1113)GTG>ATG	p.V371M	FDXR_uc010wri.1_Missense_Mutation_p.V319M|FDXR_uc010wrj.1_Missense_Mutation_p.V369M|FDXR_uc002jlw.2_Missense_Mutation_p.V128M|FDXR_uc002jlx.2_Missense_Mutation_p.V377M|FDXR_uc002jmc.2_Missense_Mutation_p.V343M|FDXR_uc010wrk.1_Missense_Mutation_p.V402M|FDXR_uc010wrl.1_Missense_Mutation_p.V414M|FDXR_uc002jma.2_Missense_Mutation_p.V372M|FDXR_uc010wrm.1_Missense_Mutation_p.V331M|FDXR_uc002jlz.2_Missense_Mutation_p.V363M|FDXR_uc002jmb.2_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	371					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAAAGGGCACGCTTGGGTCG	0.607													T	72860081	C	T	72860081	3	4	257	1	0	0	0	0	1	0	0	0	5807	536	19	1	376	1	FDXR	17	72860081	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4688805	72860081	8335129	1523	128455											
OTOP2	92736	broad.mit.edu	37	chr17	72926394	72926394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgcagacaacccggtcGgaggagactcctgcctctgc	12	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72926394G>A	uc010wrp.1	+	7	753	c.664G>A	c.(664-666)GGA>AGA	p.G222R		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	222						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					CAACCCGGTCGGAGGAGACTC	0.572													A	72926394	G	A	72926394	3	1	257	1	0	0	0	0	1	0	0	0	11306	1117	39	1	682	1	OTOP2	17	72926394	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	66313	72926394	8268816	1524	128456											
C17orf28	283987	broad.mit.edu	37	chr17	72951939	72951939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccaggaggaagaagacCaggtggtggttctgggcggc	17	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72951939C>T	uc002jmj.3	-	13	1733	c.1584G>A	c.(1582-1584)CTG>CTA	p.L528L	C17orf28_uc002jmi.2_5'Flank|C17orf28_uc010wrs.1_Silent_p.L327L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	528						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					GGAAGAAGACCAGGTGGTGGT	0.592													T	72951939	C	T	72951939	2	4	257	1	0	0	0	0	0	0	0	1	1853	581	21	4		4	C17orf28	17	72951939	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	25545	72951939	8243271	1525	128457											
CDR2L	30850	broad.mit.edu	37	chr17	72998316	72998316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaaggagctgtgcaccAgcccccggtaggtgagagca	14	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72998316A>G	uc002jml.3	+	4	911	c.499A>G	c.(499-501)AGC>GGC	p.S167G		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	167											0	all_lung(278;0.226)					GCTGTGCACCAGCCCCCGGTA	0.627													G	72998316	A	G	72998316	3	3	257	1	0	0	0	0	1	0	0	0	3173	188	7	3	513	3	CDR2L	17	72998316	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	46377	72998316	8196894	1526	128458											
KIAA0195	9772	broad.mit.edu	37	chr17	73487871	73487871	+	Frame_Shift_Del	DEL	C	C	-													ggcctggcgaggctcccaagCcccccgagccctattcacac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73487870_73487870GC>G	uc010wsa.2	+	12	1707	c.1515_1515GC>G	c.(1513-1515)aagfs	p.K505fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.K495fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.K151fs	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	495					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)			AGGCTCCCAAGCCCCCCGAGC	0.627													-	73487871	C	-	73487871	7	5	257	1	0	1	0	1	0	0	0	0	8160	739	26	0	1536	0	KIAA0195	17	73487871	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	489555	73487871	7707339	1527	128459											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					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)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	257	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	3192	73491063	7704147	1528	128460											
CASKIN2	57513	broad.mit.edu	37	chr17	73498973	73498974	+	Frame_Shift_Ins	INS	-	-	G													tctgggaggttcctctcctgINSgggggggctgggatctccac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73498972_73498973T>TG	uc002joc.3	-	17	2732_2733	c.2182_2183A>CA	c.(2182-2184)cagfs	p.Q728fs	CASKIN2_uc010wsc.2_Frame_Shift_Ins_p.Q646fs	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	728	Pro-rich.					cytoplasm		p.Q728fs*74(2)		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)			GTTCCTCTCCTGGGGGGGGCTG	0.649													G	73498974	-	G	73498973	7	5	257	1	0	1	1	0	0	0	0	0	2667	1357	47	0	1438	0	CASKIN2	17	73498973	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	7910	73498973	7696237	1529	128461											
CASKIN2	57513	broad.mit.edu	37	chr17	73501711	73501711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatccttgagcgctcggAccttcaggatccctgaggcc	11	13	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73501711A>G	uc002joc.2	-	10	1407	c.857T>C	c.(856-858)GTC>GCC	p.V286A	CASKIN2_uc010wsc.1_Missense_Mutation_p.V204A|CASKIN2_uc002jod.2_Missense_Mutation_p.V286A	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	286	SH3.					cytoplasm				pancreas(1)	1	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)			GAGCGCTCGGACCTTCAGGAT	0.582													G	73501711	A	G	73501711	3	3	257	1	0	0	0	0	1	0	0	0	2667	275	10	3	2795	3	CASKIN2	17	73501711	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2738	73501711	7693499	1530	128462											
ITGB4	3691	broad.mit.edu	37	chr17	73728020	73728020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacggcctcaagatggacgCgggcatcatctgtgatgtgt	14	10	3	2	rs144804175		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73728020C>T	uc002jpg.2	+	11	1530	c.1343C>T	c.(1342-1344)GCG>GTG	p.A448V	ITGB4_uc002jph.2_Missense_Mutation_p.A448V|ITGB4_uc010dgo.2_Missense_Mutation_p.A448V|ITGB4_uc002jpi.3_Missense_Mutation_p.A448V|ITGB4_uc010dgp.1_Missense_Mutation_p.A448V|ITGB4_uc002jpj.2_Missense_Mutation_p.A448V|ITGB4_uc010wsh.1_Missense_Mutation_p.A3V	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	448	Extracellular (Potential).				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			lung(4)	4	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)			AAGATGGACGCGGGCATCATC	0.627													T	73728020	C	T	73728020	3	4	257	1	0	0	0	0	1	0	0	0	7897	768	27	1	1381	1	ITGB4	17	73728020	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	226309	73728020	7467190	1531	128463											
UNK	85451	broad.mit.edu	37	chr17	73805997	73805997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcaattacagccctgaCgtctactgcaccaagtacga	6	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73805997C>T	uc002jpm.2	+	3	489	c.489C>T	c.(487-489)GAC>GAT	p.D163D		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	87	C3H1-type 1.						nucleic acid binding|zinc ion binding				0			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)			ACAGCCCTGACGTCTACTGCA	0.652													T	73805997	C	T	73805997	2	4	257	1	0	0	0	0	0	0	0	1	16997	535	19	1		1	UNK	17	73805997	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	77977	73805997	7389213	1532	128464											
EXOC7	23265	broad.mit.edu	37	chr17	74079765	74079765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggcgatcgatcatgtcGcccacctgctccaccccgta	8	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:74079765G>A	uc002jqs.2	-	20	2267	c.2172C>T	c.(2170-2172)GGC>GGT	p.G724G	EXOC7_uc002jqp.1_Missense_Mutation_p.A186V|EXOC7_uc010dgv.1_Silent_p.G598G|EXOC7_uc002jqq.2_Silent_p.G673G|EXOC7_uc010wsw.1_Silent_p.G696G|EXOC7_uc010wsx.1_Silent_p.G665G|EXOC7_uc002jqr.2_Silent_p.G642G|EXOC7_uc010wsv.1_Silent_p.G645G	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	724					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CGATCATGTCGCCCACCTGCT	0.587													A	74079765	G	A	74079765	2	1	257	1	0	0	0	0	0	0	0	1	5310	1074	38	1		1	EXOC7	17	74079765	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	273768	74079765	7115445	1533	128465											
CBX2	84733	broad.mit.edu	37	chr17	77757794	77757794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacccgtgagcctggccaaGgtgctgaagaccgcccggaa	14	13	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:77757794G>T	uc002jxc.2	+	5	594	c.552G>T	c.(550-552)AAG>AAT	p.K184N		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	184					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				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCTGGCCAAGGTGCTGAAGA	0.677													T	77757794	G	T	77757794	3	4	257	1	0	0	0	0	1	0	0	0	2718	991	35	5	918	5	CBX2	17	77757794	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3678029	77757794	3437416	1534	128466											
CCDC40	55036	broad.mit.edu	37	chr17	78039298	78039298	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggcctgcaccgagatCgacgccatcagcgtggagaa	13	13	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78039298C>T	uc010dht.2	+	10	1482	c.1455C>T	c.(1453-1455)ATC>ATT	p.I485I	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Silent_p.I268I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	485					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCACCGAGATCGACGCCATCA	0.622													T	78039298	C	T	78039298	2	4	257	1	0	0	0	0	0	0	0	1	2812	874	31	1		1	CCDC40	17	78039298	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	281504	78039298	3155912	1535	128467											
CCDC40	55036	broad.mit.edu	37	chr17	78063670	78063670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccatgaagggcgagaTccacaggatgaaggtgaggg	18	8	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78063670T>C	uc010dht.2	+	17	2846	c.2819T>C	c.(2818-2820)ATC>ACC	p.I940T	CCDC40_uc002jxm.3_Missense_Mutation_p.I723T|CCDC40_uc002jxn.3_Missense_Mutation_p.I336T	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	940	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGGCGAGATCCACAGGATG	0.597													C	78063670	T	C	78063670	3	2	257	1	0	0	0	0	1	0	0	0	2812	1435	50	3	2885	3	CCDC40	17	78063670	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	24372	78063670	3131540	1536	128468											
RNF213	57674	broad.mit.edu	37	chr17	78346440	78346440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggccgagagcctgccaaCgaggcctcggttgaatacct	14	13	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78346440C>T	uc002jyh.1	+	23	7099	c.6876C>T	c.(6874-6876)AAC>AAT	p.N2292N	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.N674N	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCCTGCCAACGAGGCCTCGG	0.577													T	78346440	C	T	78346440	2	4	257	1	0	0	0	0	0	0	0	1	13477	535	19	1		1	RNF213	17	78346440	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	282770	78346440	2848770	1537	128469											
RNF213	57674	broad.mit.edu	37	chr17	78346893	78346893	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagccagcgggggatggaGttcgtgcagggcctctccaa	16	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78346893G>C	uc002jyh.1	+	24	7312	c.7089G>C	c.(7087-7089)GAG>GAC	p.E2363D	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E745D	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGGATGGAGTTCGTGCAGG	0.637													C	78346893	G	C	78346893	3	2	257	1	0	0	0	0	1	0	0	0	13477	1020	36	5	13379	5	RNF213	17	78346893	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	453	78346893	2848317	1538	128470											
NPTX1	4884	broad.mit.edu	37	chr17	78449519	78449519	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattgaggcggctgtactgCtgcggggtgcaagggcgggg	21	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78449519C>T	uc002jyp.1	-	2	603	c.445_splice	c.e2-1	p.Q149_splice		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor						central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGCTGTACTGCTGCGGGGTGC	0.682													T	78449519	C	T	78449519	5	4	257	1	0	0	0	0	0	0	1	0	10602	811	28	2	870	2	NPTX1	17	78449519	Splice_Site	SNP	C	TCGA-HU-8602-01A-11D-2394-08	102626	78449519	2745691	1539	128471											
BAIAP2	10458	broad.mit.edu	37	chr17	79077743	79077743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcacacccatcatgaacGgcgtcacaggcccggatggc	12	14	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:79077743G>A	uc002jzg.2	+	9	1009	c.901G>A	c.(901-903)GGC>AGC	p.G301S	BAIAP2_uc002jyz.3_Missense_Mutation_p.G301S|BAIAP2_uc002jza.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzc.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzb.2_Missense_Mutation_p.G58S|BAIAP2_uc002jzd.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzf.2_Missense_Mutation_p.G301S|BAIAP2_uc002jze.2_Missense_Mutation_p.G334S|BAIAP2_uc010wuh.1_Missense_Mutation_p.G223S|BAIAP2_uc002jzh.2_Missense_Mutation_p.G302S|BAIAP2_uc010wui.1_Missense_Mutation_p.G164S	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	301					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				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CATCATGAACGGCGTCACAGG	0.652													A	79077743	G	A	79077743	3	1	257	1	0	0	0	0	1	0	0	0	1301	1116	39	1	935	1	BAIAP2	17	79077743	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	628224	79077743	2117467	1540	128472											
ASPSCR1	79058	broad.mit.edu	37	chr17	79954320	79954320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgaagtgctacgacccCgtgggcaagaccccaggaag	13	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:79954320C>T	uc002kcx.2	+	7	628	c.531C>T	c.(529-531)CCC>CCT	p.P177P	ASPSCR1_uc002kcw.1_Silent_p.P177P|ASPSCR1_uc002kcy.2_Silent_p.P177P|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Silent_p.P100P|ASPSCR1_uc002kdb.1_Silent_p.P100P	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	177							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	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)			GCTACGACCCCGTGGGCAAGA	0.582			T	TFE3	alveolar soft part sarcoma								T	79954320	C	T	79954320	2	4	257	1	0	0	0	0	0	0	0	1	1059	639	23	1		1	ASPSCR1	17	79954320	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	876577	79954320	1240890	1541	128473											
ASPSCR1	79058	broad.mit.edu	37	chr17	79974836	79974836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatgtccagggccgccGggtccccttccccattgcca	11	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:79974836G>A	uc002kcx.2	+	15	1592	c.1495G>A	c.(1495-1497)GGG>AGG	p.G499R	ASPSCR1_uc002kcw.1_Missense_Mutation_p.G499R|ASPSCR1_uc002kcy.2_Missense_Mutation_p.G593R|ASPSCR1_uc002kcz.2_Missense_Mutation_p.G393R|ASPSCR1_uc002kda.2_Missense_Mutation_p.G447R	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	499							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	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)			CAGGGCCGCCGGGTCCCCTTC	0.692			T	TFE3	alveolar soft part sarcoma								A	79974836	G	A	79974836	3	1	257	1	0	0	0	0	1	0	0	0	1059	1116	39	1	1553	1	ASPSCR1	17	79974836	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	20516	79974836	1220374	1542	128474											
FASN	2194	broad.mit.edu	37	chr17	80037389	80037389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggccgcaaagctcagctcCtggcggtccaggccctggtg	15	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:80037389C>A	uc002kdu.2	-	42	7359	c.7242G>T	c.(7240-7242)CAG>CAT	p.Q2414H	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2414	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(1)	1	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)	AGCTCAGCTCCTGGCGGTCCA	0.642													A	80037389	C	A	80037389	3	1	257	1	0	0	0	0	1	0	0	0	5683	680	24	5	301	5	FASN	17	80037389	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	62553	80037389	1157821	1543	128475											
C17orf62	79415	broad.mit.edu	37	chr17	80402350	80402350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatgactgcactctgcGtgagggggtgggagaagccc	17	11	1	3	rs139347006		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:80402350G>A	uc002kez.2	-	5	464	c.416C>T	c.(415-417)ACG>ATG	p.T139M	C17orf62_uc002kex.2_Translation_Start_Site|C17orf62_uc002key.2_Translation_Start_Site|C17orf62_uc002kfa.2_Missense_Mutation_p.T139M|C17orf62_uc010dir.2_Missense_Mutation_p.T139M|C17orf62_uc002kfb.3_Missense_Mutation_p.T139M|C17orf62_uc002kfc.3_Missense_Mutation_p.T125M|C17orf62_uc002kfd.3_Translation_Start_Site|C17orf62_uc002kfe.3_Translation_Start_Site	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	139						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCACTCTGCGTGAGGGGGTG	0.627													A	80402350	G	A	80402350	3	1	257	1	0	0	0	0	1	0	0	0	1870	1145	40	1	155	1	C17orf62	17	80402350	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	364961	80402350	792860	1544	128476											
FN3K	64122	broad.mit.edu	37	chr17	80708552	80708552	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctctaccagctgtttaActacctgaaccactggaacc	7	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:80708552A>C	uc010wvs.1	+	6	912	c.851A>C	c.(850-852)AAC>ACC	p.N284T	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	284					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGCTGTTTAACTACCTGAAC	0.572													C	80708552	A	C	80708552	3	2	257	1	0	0	0	0	1	0	0	0	5963	43	2	5	873	5	FN3K	17	80708552	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	306202	80708552	486658	1545	128477											
MYOM1	8736	broad.mit.edu	37	chr18	3067480	3067480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtggtcgtctgaggccAgggccttctcgttcttcaac	12	12	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:3067480A>G	uc002klp.2	-	38	5172	c.4838T>C	c.(4837-4839)CTG>CCG	p.L1613P	MYOM1_uc002klq.2_Missense_Mutation_p.L1517P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1613	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GTCTGAGGCCAGGGCCTTCTC	0.587													G	3067480	A	G	3067480	3	3	257	1	0	0	0	0	1	0	0	0	10091	188	7	3	223	3	MYOM1	18	3067480	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08		3067480	75009768	1546	128478											
LAMA1	284217	broad.mit.edu	37	chr18	7013850	7013850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtttcctccacacagccGcagagaccctgctccaggtt	9	17	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:7013850G>A	uc002knm.2	-	23	3421	c.3327C>T	c.(3325-3327)TGC>TGT	p.C1109C	LAMA1_uc010wzj.1_Silent_p.C585C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1109	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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACACAGCCGCAGAGACCCT	0.577													A	7013850	G	A	7013850	2	1	257	1	0	0	0	0	0	0	0	1	8605	1079	38	1		1	LAMA1	18	7013850	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3946370	7013850	71063398	1547	128479											
LAMA1	284217	broad.mit.edu	37	chr18	7036027	7036027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacatgaggttactgtctaCcgtctctaccggaatatcgt	9	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:7036027C>T	uc002knm.2	-	13	1892	c.1798G>A	c.(1798-1800)GTA>ATA	p.V600I	LAMA1_uc010wzj.1_Missense_Mutation_p.V76I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	600	Laminin IV type A 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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTACTGTCTACCGTCTCTACC	0.448													T	7036027	C	T	7036027	3	4	257	1	0	0	0	0	1	0	0	0	8605	507	18	4	7633	4	LAMA1	18	7036027	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	22177	7036027	71041221	1548	128480											
APCDD1	147495	broad.mit.edu	37	chr18	10471815	10471815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgggcttcctcgcagaCgggggtccctgggtgcagga	17	13	0	1	rs149506112	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:10471815C>T	uc002kom.3	+	3	885	c.531C>T	c.(529-531)GAC>GAT	p.D177D		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	177	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		TCCTCGCAGACGGGGGTCCCT	0.627													T	10471815	C	T	10471815	2	4	257	1	0	0	0	0	0	0	0	1	765	535	19	1		1	APCDD1	18	10471815	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3435788	10471815	67605433	1549	128481											
NAPG	8774	broad.mit.edu	37	chr18	10548342	10548342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctacacagaaatgactatgTagctgcagaaagatgtgtcc	9	8	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:10548342T>C	uc002kon.2	+	10	859	c.632T>C	c.(631-633)GTA>GCA	p.V211A	NAPG_uc010wzr.1_Missense_Mutation_p.V129A|NAPG_uc002koo.2_Missense_Mutation_p.V124A|NAPG_uc002kop.2_Missense_Mutation_p.V124A	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	211					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0						AATGACTATGTAGCTGCAGAA	0.403													C	10548342	T	C	10548342	3	2	257	1	0	0	0	0	1	0	0	0	10164	1638	57	3	670	3	NAPG	18	10548342	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	76527	10548342	67528906	1550	128482											
ROCK1	6093	broad.mit.edu	37	chr18	18562783	18562783	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcatctgtccttcatttcCtctatactgtcttcagatga	5	13	5	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:18562783C>A	uc002kte.2	-	21	3441	c.2500G>T	c.(2500-2502)GGA>TGA	p.G834*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	834	Glu-rich.				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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					CCTTCATTTCCTCTATACTGT	0.338													A	18562783	C	A	18562783	4	1	257	1	0	0	0	0	0	1	0	0	13517	690	24	5	1616	5	ROCK1	18	18562783	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	8014441	18562783	59514465	1551	128483											
CTAGE1	64693	broad.mit.edu	37	chr18	19995553	19995553	+	Frame_Shift_Del	DEL	G	G	-													accttcagaatgtgggggctGgggggaaaaatgcaggtctt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:19995552_19995552TG>T	uc002ktv.1	-	0	2327	c.2223_2223CA>A	c.(2221-2223)ccafs	p.P741fs		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	741	Pro-rich.					integral to membrane		p.P740L(1)		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)					ATGTGGGGGCTGGGGGGAAAA	0.493													-	19995553	G	-	19995553	7	5	257	1	0	1	0	1	0	0	0	0	3992	1348	47	0	19	0	CTAGE1	18	19995553	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	1432770	19995553	58081695	1552	128484											
CTAGE1	64693	broad.mit.edu	37	chr18	19997740	19997740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgtatcaccaattccCatggaaaaccataaggatga	7	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:19997740C>A	uc002ktv.1	-	1	139	c.35G>T	c.(34-36)TGG>TTG	p.W12L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	12						integral to membrane				ovary(1)	1	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)					CACCAATTCCCATGGAAAACC	0.488													A	19997740	C	A	19997740	3	1	257	1	0	0	0	0	1	0	0	0	3992	595	21	5	2206	5	CTAGE1	18	19997740	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2187	19997740	58079508	1553	128485											
NPC1	4864	broad.mit.edu	37	chr18	21121037	21121037	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagataagcgcataccacaaTtggtctcatccagtccttta	6	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:21121037T>A	uc002kum.3	-	16	2783	c.2509A>T	c.(2509-2511)ATT>TTT	p.I837F	NPC1_uc010xaz.1_Missense_Mutation_p.I570F|NPC1_uc010xba.1_Missense_Mutation_p.I682F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	837	Helical; (Potential).				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			ovary(2)	2	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)					CATACCACAATTGGTCTCATC	0.448													A	21121037	T	A	21121037	3	1	257	1	0	0	0	0	1	0	0	0	10570	1493	52	5	1367	5	NPC1	18	21121037	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1123297	21121037	56956211	1554	128486											
AQP4	361	broad.mit.edu	37	chr18	24441102	24441102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaacttactgcaaatAaatgtccaattgcaacagaa	6	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:24441102A>G	uc002kwa.2	-	3	668	c.605T>C	c.(604-606)TTA>TCA	p.L202S	AQP4_uc002kvz.2_Missense_Mutation_p.L180S	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	202	Helical; (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TACTGCAAATAAATGTCCAAT	0.393													G	24441102	A	G	24441102	3	3	257	1	0	0	0	0	1	0	0	0	828	372	13	3	378	3	AQP4	18	24441102	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	3320065	24441102	53636146	1555	128487											
KLHL14	57565	broad.mit.edu	37	chr18	30349891	30349891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgagtccagcagggcgcGcatctcctcgaagttgagca	13	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:30349891G>A	uc002kxm.1	-	2	1052	c.664C>T	c.(664-666)CGC>TGC	p.R222C		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	222	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						AGCAGGGCGCGCATCTCCTCG	0.657													A	30349891	G	A	30349891	3	1	257	1	0	0	0	0	1	0	0	0	8370	1087	38	1	1254	1	KLHL14	18	30349891	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5908789	30349891	47727357	1556	128488											
NOL4	8715	broad.mit.edu	37	chr18	31803204	31803204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaactggcggtacatgtcgCgctcgctctccatgttcccc	11	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:31803204C>A	uc010dmi.2	-	1	243	c.14G>T	c.(13-15)CGC>CTC	p.R5L	NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.R5L|NOL4_uc002kxt.3_Missense_Mutation_p.R5L	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	5						nucleolus	RNA binding			ovary(3)	3						GTACATGTCGCGCTCGCTCTC	0.612													A	31803204	C	A	31803204	3	1	257	1	0	0	0	0	1	0	0	0	10524	768	27	5	1946	5	NOL4	18	31803204	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1453313	31803204	46274044	1557	128489											
SLC39A6	25800	broad.mit.edu	37	chr18	33694199	33694199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtggttttggtggtgGtgatgatggagaatatgatg	19	0	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:33694199G>A	uc010dmy.2	-	7	1994	c.1704C>T	c.(1702-1704)CAC>CAT	p.H568H	SLC39A6_uc002kzj.2_Silent_p.H293H	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	568	His-rich.|Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						tttggtggtggtgatgatgga	0.313													A	33694199	G	A	33694199	2	1	257	1	0	0	0	0	0	0	0	1	14622	1252	44	4		4	SLC39A6	18	33694199	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1890995	33694199	44383049	1558	128490											
KIAA1632	57724	broad.mit.edu	37	chr18	43495561	43495561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagatgagagcagactcCggtcacagtggtaacccaag	11	11	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:43495561C>T	uc002lbm.2	-	20	3708	c.3608G>A	c.(3607-3609)CGG>CAG	p.R1203Q	KIAA1632_uc002lbo.1_Missense_Mutation_p.R1203Q|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R78Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1203					autophagy						0						GAGCAGACTCCGGTCACAGTG	0.498													T	43495561	C	T	43495561	3	4	257	1	0	0	0	0	1	0	0	0	8249	652	23	1	4231	1	KIAA1632	18	43495561	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	9801362	43495561	34581687	1559	128491											
ST8SIA5	29906	broad.mit.edu	37	chr18	44336461	44336461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggttggccgaggggtccGcgtagcgcatcctggctacc	15	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:44336461G>A	uc002lcj.1	-	1	579	c.11C>T	c.(10-12)GCG>GTG	p.A4V	ST8SIA5_uc010xcy.1_Missense_Mutation_p.A4V|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A4V|ST8SIA5_uc010dno.1_Missense_Mutation_p.A4V	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	4	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CGAGGGGTCCGCGTAGCGCAT	0.448													A	44336461	G	A	44336461	3	1	257	1	0	0	0	0	1	0	0	0	15234	1087	38	1	1147	1	ST8SIA5	18	44336461	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	840900	44336461	33740787	1560	128492											
HDHD2	84064	broad.mit.edu	37	chr18	44660950	44660950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacttctggctgcagtcAgagatgtgaatatttcatct	9	7	4	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:44660950A>G	uc002lcs.2	-	3	360	c.227T>C	c.(226-228)CTG>CCG	p.L76P	HDHD2_uc002lct.2_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	76							hydrolase activity				0						GGCTGCAGTCAGAGATGTGAA	0.413													G	44660950	A	G	44660950	3	3	257	1	0	0	0	0	1	0	0	0	7023	188	7	3	572	3	HDHD2	18	44660950	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	324489	44660950	33416298	1561	128493											
KIAA0427	9811	broad.mit.edu	37	chr18	46163044	46163044	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttctcccgagggcgagcCcccccacagcaggtagggaa	12	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:46163044C>A	uc002ldc.2	+	3	525	c.240C>A	c.(238-240)GCC>GCA	p.A80A	KIAA0427_uc002ldd.2_Silent_p.A80A	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	80	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GAGGGCGAGCCCCCCCACAGC	0.642													A	46163044	C	A	46163044	2	1	257	1	0	0	0	0	0	0	0	1	8176	610	22	5		5	KIAA0427	18	46163044	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1502094	46163044	31914204	1562	128494											
DYM	54808	broad.mit.edu	37	chr18	46808386	46808386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagattttccatatctgtgCgagccaacatgtatgttcta	7	9	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:46808386C>T	uc002ldi.1	-	10	1471	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H	DYM_uc010xdf.1_Missense_Mutation_p.R179H|DYM_uc002ldj.3_Missense_Mutation_p.R191H	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	369						Golgi apparatus					0						CATATCTGTGCGAGCCAACAT	0.284													T	46808386	C	T	46808386	3	4	257	1	0	0	0	0	1	0	0	0	4840	768	27	1	935	1	DYM	18	46808386	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	645342	46808386	31268862	1563	128495											
DCC	1630	broad.mit.edu	37	chr18	50592432	50592432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagggaggaagcaacttacGgatacttggggtggtgaagt	16	5	0	1	rs140711456	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:50592432G>A	uc002lfe.1	+	7	1744	c.1157G>A	c.(1156-1158)CGG>CAG	p.R386Q	DCC_uc010xdr.1_Missense_Mutation_p.R234Q|DCC_uc010dpf.1_Missense_Mutation_p.R41Q	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	386	Extracellular (Potential).|Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCAACTTACGGATACTTGGG	0.418													A	50592432	G	A	50592432	3	1	257	1	0	0	0	0	1	0	0	0	4282	1116	39	1	1183	1	DCC	18	50592432	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3784046	50592432	27484816	1564	128496											
ALPK2	115701	broad.mit.edu	37	chr18	56202918	56202918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttggaattctttcacCgccttcgctgggttgcagga	10	12	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:56202918C>T	uc002lhj.3	-	5	4715	c.4501G>A	c.(4501-4503)GGT>AGT	p.G1501S	ALPK2_uc002lhk.1_Missense_Mutation_p.G832S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1501							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ATTCTTTCACCGCCTTCGCTG	0.483													T	56202918	C	T	56202918	3	4	257	1	0	0	0	0	1	0	0	0	545	652	23	1	2047	1	ALPK2	18	56202918	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5610486	56202918	21874330	1565	128497											
ZNF516	9658	broad.mit.edu	37	chr18	74092152	74092152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccctgccttggactcgcCggtgtctctttccgaggcgt	12	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:74092152C>T	uc010dqx.1	-	3	2153	c.1918G>A	c.(1918-1920)GGC>AGC	p.G640S	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGGACTCGCCGGTGTCTCTT	0.537													T	74092152	C	T	74092152	3	4	257	1	0	0	0	0	1	0	0	0	17957	652	23	1	1590	1	ZNF516	18	74092152	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	17889234	74092152	3985096	1566	128498											
ZNF236	7776	broad.mit.edu	37	chr18	74639294	74639294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctattggctcagcagctcaCgggggagcctggcctggccc	14	15	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:74639294C>T	uc002lmi.2	+	24	4427	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		CAGCAGCTCACGGGGGAGCCT	0.552													T	74639294	C	T	74639294	3	4	257	1	0	0	0	0	1	0	0	0	17786	536	19	1	4323	1	ZNF236	18	74639294	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	547142	74639294	3437954	1567	128499											
LPPR3	79948	broad.mit.edu	37	chr19	815829	815829	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtacaaggatacgAtggaagaagccactatgggc	13	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:815829A>T	uc002lpx.1	-	3	162	c.98T>A	c.(97-99)ATC>AAC	p.I33N	LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.I33N|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	33	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity				0						CAAGGATACGATGGAAGAAGC	0.602													T	815829	A	T	815829	3	4	257	1	0	0	0	0	1	0	0	0	8926	333	12	5	2162	5	LPPR3	19	815829	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08		815829	58313154	1568	128500											
HMHA1	23526	broad.mit.edu	37	chr19	1074618	1074618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccccacccacagccccaCatgccgctcctgtccatcta	6	21	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1074618C>T	uc002lqz.1	+	9	1230	c.999C>T	c.(997-999)CAC>CAT	p.H333H	HMHA1_uc010xgd.1_Silent_p.H349H|HMHA1_uc010xge.1_Silent_p.H173H|HMHA1_uc002lra.1_Silent_p.H173H|HMHA1_uc002lrb.1_Silent_p.H216H|HMHA1_uc002lrc.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	333					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		CACAGCCCCACATGCCGCTCC	0.697													T	1074618	C	T	1074618	2	4	257	1	0	0	0	0	0	0	0	1	7240	477	17	4		4	HMHA1	19	1074618	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	258789	1074618	58054365	1569	128501											
HMHA1	23526	broad.mit.edu	37	chr19	1080043	1080043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcagtacgcctcccaCgtgcgccagctgcagcggga	14	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1080043C>T	uc002lqz.1	+	13	1860	c.1629C>T	c.(1627-1629)CAC>CAT	p.H543H	HMHA1_uc010xgd.1_Silent_p.H559H|HMHA1_uc010xge.1_Silent_p.H383H|HMHA1_uc002lra.1_Silent_p.H383H|HMHA1_uc002lrb.1_Silent_p.H426H|HMHA1_uc002lrc.1_Silent_p.H178H|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	543					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		ACGCCTCCCACGTGCGCCAGC	0.647													T	1080043	C	T	1080043	2	4	257	1	0	0	0	0	0	0	0	1	7240	535	19	1		1	HMHA1	19	1080043	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5425	1080043	58048940	1570	128502											
APC2	10297	broad.mit.edu	37	chr19	1460273	1460273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcgctgcgccgctacgCgggcatgaccctcaccaacc	11	19	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1460273C>T	uc002lsr.1	+	11	1605	c.1397C>T	c.(1396-1398)GCG>GTG	p.A466V	APC2_uc002lss.1_Missense_Mutation_p.A48V|APC2_uc002lst.1_Missense_Mutation_p.A466V|APC2_uc002lsu.1_Missense_Mutation_p.A465V|uc002lsv.2_5'Flank	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	466					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)|pancreas(1)	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)		CGCCGCTACGCGGGCATGACC	0.642													T	1460273	C	T	1460273	3	4	257	1	0	0	0	0	1	0	0	0	764	768	27	1	1435	1	APC2	19	1460273	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	380230	1460273	57668710	1571	128503											
ATP8B3	148229	broad.mit.edu	37	chr19	1785177	1785177	+	Frame_Shift_Del	DEL	G	G	-													cacagaaacgggaaggtcgtGggggatactctgaagagcca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1785177delG	uc002ltw.2	-	27	3747	c.3513delC	c.(3511-3513)CCCfs	p.P1171fs	ATP8B3_uc002ltv.2_Frame_Shift_Del_p.P1134fs|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1171	Extracellular (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		GGAAGGTCGTGGGGGATACTC	0.567													-	1785177	G	-	1785177	7	5	257	1	0	1	0	1	0	0	0	0	1196	1335	47	0	401	0	ATP8B3	19	1785177	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	324904	1785177	57343806	1572	128504											
TMPRSS9	360200	broad.mit.edu	37	chr19	2422184	2422184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgccgtgagcaccacTgctaggggacagacgccatt	11	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:2422184T>C	uc010xgx.1	+	13	2385	c.2385T>C	c.(2383-2385)ACT>ACC	p.T795T		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	795	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		TGAGCACCACTGCTAGGGGAC	0.662													C	2422184	T	C	2422184	2	2	257	1	0	0	0	0	0	0	0	1	16250	1567	55	3		3	TMPRSS9	19	2422184	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	637007	2422184	56706799	1573	128505											
ZNF77	58492	broad.mit.edu	37	chr19	2934127	2934127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacgagtaacaagtgAacgcttttccgcaatgttta	10	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:2934127A>G	uc002lws.3	-	4	1129	c.998T>C	c.(997-999)TTC>TCC	p.F333S		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	333	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAACAAGTGAACGCTTTTCC	0.478													G	2934127	A	G	2934127	3	3	257	1	0	0	0	0	1	0	0	0	18139	246	9	3	643	3	ZNF77	19	2934127	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	511943	2934127	56194856	1574	128506											
ZNF77	58492	broad.mit.edu	37	chr19	2934175	2934175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtttctctccagtgtgcGtcctcacgtgatctctaaag	10	11	3	1	rs151130031	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:2934175G>A	uc002lws.3	-	4	1081	c.950C>T	c.(949-951)ACG>ATG	p.T317M		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	317	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTCCTCACGTG	0.458													A	2934175	G	A	2934175	3	1	257	1	0	0	0	0	1	0	0	0	18139	1145	40	1	691	1	ZNF77	19	2934175	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	48	2934175	56194808	1575	128507											
TLE2	7089	broad.mit.edu	37	chr19	3028804	3028804	+	Splice_Site	DEL	G	G	-													gccggactggagcggggtctGgggggggtgtgggggaaacg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3028803_3028803TG>T	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTG	0.622													-	3028804	G	-	3028804	8	5	257	1	0	1	0	1	0	0	1	0	15936	1363	47	0		0	TLE2	19	3028804	Splice_Site	DEL	G	TCGA-HU-8602-01A-11D-2394-08	94629	3028804	56100179	1576	128508											
C19orf29	58509	broad.mit.edu	37	chr19	3624114	3624114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggccgcggggggctccGgcttcgcatccctgagcgct	16	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3624114G>A	uc002lyh.2	-	2	267	c.214C>T	c.(214-216)CGG>TGG	p.R72W	C19orf29_uc002lyi.3_Missense_Mutation_p.R72W|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	72						catalytic step 2 spliceosome	protein binding				0		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)		GGGGGGCTCCGGCTTCGCATC	0.632													A	3624114	G	A	3624114	3	1	257	1	0	0	0	0	1	0	0	0	1918	1115	39	1	2098	1	C19orf29	19	3624114	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	595310	3624114	55504869	1577	128509											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653477	3653477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtgcatcttgaccacGcggggcaggatgttgttcat	14	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3653477G>A	uc002lyj.1	-	7	789	c.732C>T	c.(730-732)CGC>CGT	p.R244R	PIP5K1C_uc010xhq.1_Silent_p.R244R|PIP5K1C_uc010xhr.1_Silent_p.R244R	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	244	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		TCTTGACCACGCGGGGCAGGA	0.602													A	3653477	G	A	3653477	2	1	257	1	0	0	0	0	0	0	0	1	11941	1074	38	1		1	PIP5K1C	19	3653477	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	29363	3653477	55475506	1578	128510											
TJP3	27134	broad.mit.edu	37	chr19	3746525	3746525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccctccgccatcgagCgcctcaactatgtgcagtac	8	17	1	1	rs142262857		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3746525C>T	uc010xhv.1	+	16	2152	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	TJP3_uc010xhs.1_Missense_Mutation_p.R685C|TJP3_uc010xht.1_Missense_Mutation_p.R649C|TJP3_uc010xhu.1_Missense_Mutation_p.R694C|TJP3_uc010xhw.1_Missense_Mutation_p.R704C	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	699	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATCGAGCGCCTCAACTA	0.652													T	3746525	C	T	3746525	3	4	257	1	0	0	0	0	1	0	0	0	15928	768	27	1	2214	1	TJP3	19	3746525	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	93048	3746525	55382458	1579	128511											
DAPK3	1613	broad.mit.edu	37	chr19	3959614	3959614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccgctgtcctcaccacGcacgttccgccgccggatcg	12	19	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3959614G>A	uc002lzc.1	-	8	943	c.850C>T	c.(850-852)CGT>TGT	p.R284C	DAPK3_uc002lzb.1_Missense_Mutation_p.R21C|DAPK3_uc002lzd.1_Missense_Mutation_p.R284C	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	284					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		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)		TCCTCACCACGCACGTTCCGC	0.682													A	3959614	G	A	3959614	3	1	257	1	0	0	0	0	1	0	0	0	4237	1087	38	1	518	1	DAPK3	19	3959614	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	213089	3959614	55169369	1580	128512											
ANKRD24	170961	broad.mit.edu	37	chr19	4216637	4216637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctatgactctctccggGccgagtttgaccagctacgc	9	16	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:4216637G>A	uc010dtt.1	+	18	1756	c.1480G>A	c.(1480-1482)GCC>ACC	p.A494T	ANKRD24_uc002lzs.2_Missense_Mutation_p.A465T|ANKRD24_uc002lzt.2_Missense_Mutation_p.A466T	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	494	Potential.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTCTCTCCGGGCCGAGTTTGA	0.607													A	4216637	G	A	4216637	3	1	257	1	0	0	0	0	1	0	0	0	653	1203	42	2	1546	2	ANKRD24	19	4216637	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	257023	4216637	54912346	1581	128513											
ZNRF4	148066	broad.mit.edu	37	chr19	5456055	5456055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcttcgaggcggccatcGtgcacaacgtccactccgac	11	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:5456055G>A	uc002mca.3	+	1	630	c.553G>A	c.(553-555)GTG>ATG	p.V185M		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	185	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCGGCCATCGTGCACAACGT	0.657													A	5456055	G	A	5456055	3	1	257	1	0	0	0	0	1	0	0	0	18211	1145	40	1	555	1	ZNRF4	19	5456055	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1239418	5456055	53672928	1582	128514											
SAFB	6294	broad.mit.edu	37	chr19	5667115	5667116	+	Frame_Shift_Ins	INS	-	-	G													cgggactcccgcgatggctgINSggggggctatggctctgaca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:5667114_5667115T>TG	uc002mcg.3	+	17	2563_2564	c.2392_2393T>TG	c.(2392-2394)tggfs	p.W798fs	SAFB_uc002mcf.3_Frame_Shift_Ins_p.W798fs|SAFB_uc002mce.4_Frame_Shift_Ins_p.W797fs|SAFB_uc010xis.2_Frame_Shift_Ins_p.W729fs|SAFB_uc010xit.2_Frame_Shift_Ins_p.W640fs|SAFB_uc010xir.2_Frame_Shift_Ins_p.W797fs|SAFB_uc010xiu.2_Frame_Shift_Ins_p.W597fs	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	798	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein 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)		CCGCGATGGCTGGGGGGGCTAT	0.644													G	5667116	-	G	5667115	7	5	257	1	0	1	1	0	0	0	0	0	13806	1357	47	0	2463	0	SAFB	19	5667115	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	211060	5667115	53461868	1583	128515											
FUT3	2525	broad.mit.edu	37	chr19	5844464	5844465	+	Frame_Shift_Ins	INS	-	-	C													tgaaccagatccagcgctgcINSccctgcggcctcggggaagg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:5844463_5844464G>GC	uc002mdk.2	-	1	484_485	c.387_388C>GC	c.(385-390)gggcagfs	p.G129fs	FUT3_uc002mdm.2_Frame_Shift_Ins_p.G129fs|FUT3_uc002mdj.2_Frame_Shift_Ins_p.G129fs|FUT3_uc002mdl.2_Frame_Shift_Ins_p.G129fs|FUT3_uc021unn.1_Frame_Shift_Ins_p.G129fs	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	129					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						ATCCAGCGCTGCCCCTGCGGCC	0.594													C	5844465	-	C	5844464	7	5	257	1	0	1	1	0	0	0	0	0	6105	726	26	0	702	0	FUT3	19	5844464	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	177349	5844464	53284519	1584	128516											
C3	718	broad.mit.edu	37	chr19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-													ggaacggacaacgaggacttGggggggatggttacggtctg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:6697480_6697480TG>T	uc002mfm.3	-	20	2733	c.2671_2671CA>A	c.(2671-2673)aagfs	p.K891fs		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	891					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical 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)		AACGAGGACTTGGGGGGGATG	0.577													-	6697481	G	-	6697481	7	5	257	1	0	1	0	1	0	0	0	0	2204	1335	47	0	2405	0	C3	19	6697481	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	853017	6697481	52431502	1585	128517											
ZNF358	140467	broad.mit.edu	37	chr19	7585009	7585009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcggccctacccgtgtcCgcagtgcggcaaggccttcg	14	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7585009C>T	uc002mgn.2	+	2	1051	c.881C>T	c.(880-882)CCG>CTG	p.P294L	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	294	C2H2-type 6.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TACCCGTGTCCGCAGTGCGGC	0.726													T	7585009	C	T	7585009	3	4	257	1	0	0	0	0	1	0	0	0	17864	652	23	1	883	1	ZNF358	19	7585009	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	887528	7585009	51543974	1586	128518											
ZNF358	140467	broad.mit.edu	37	chr19	7585714	7585714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccagccctgatcccaAccctgtgtcctgccctgacc	8	19	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7585714A>T	uc002mgn.2	+	2	1756	c.1586A>T	c.(1585-1587)AAC>ATC	p.N529I	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	529					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CCTGATCCCAACCCTGTGTCC	0.657													T	7585714	A	T	7585714	3	4	257	1	0	0	0	0	1	0	0	0	17864	43	2	5	1588	5	ZNF358	19	7585714	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	705	7585714	51543269	1587	128519											
MCOLN1	57192	broad.mit.edu	37	chr19	7591756	7591756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccagcggtactaccaccGaggccacgtggacccggcca	12	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7591756G>A	uc002mgo.2	+	4	640	c.515G>A	c.(514-516)CGA>CAA	p.R172Q	MCOLN1_uc002mgp.2_Missense_Mutation_p.E59K	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	172				ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242).	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(1)	1						TACTACCACCGAGGCCACGTG	0.607													A	7591756	G	A	7591756	3	1	257	1	0	0	0	0	1	0	0	0	9395	1058	37	1	529	1	MCOLN1	19	7591756	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6042	7591756	51537227	1588	128520											
PNPLA6	10908	broad.mit.edu	37	chr19	7607555	7607555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggcagcccccgctcGggtaaggcttgggaccctgc	14	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7607555G>A	uc010xjq.1	+	13	1583	c.1388G>A	c.(1387-1389)CGG>CAG	p.R463Q	PNPLA6_uc002mgq.1_Missense_Mutation_p.R415Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.R415Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.R415Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.R454Q	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	454	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GCCCCCGCTCGGGTAAGGCTT	0.701													A	7607555	G	A	7607555	3	1	257	1	0	0	0	0	1	0	0	0	12169	1130	39	1	1434	1	PNPLA6	19	7607555	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	15799	7607555	51521428	1589	128521											
EVI5L	115704	broad.mit.edu	37	chr19	7911452	7911452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagccccactctgagcccCgactcctcatcccaggaggc	10	19	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7911452C>T	uc002min.2	+	2	178	c.24C>T	c.(22-24)CCC>CCT	p.P8P	EVI5L_uc010xjz.1_Silent_p.P8P	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	8						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CTCTGAGCCCCGACTCCTCAT	0.662													T	7911452	C	T	7911452	2	4	257	1	0	0	0	0	0	0	0	1	5290	639	23	1		1	EVI5L	19	7911452	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	303897	7911452	51217531	1590	128522											
TIMM44	10469	broad.mit.edu	37	chr19	8002975	8002975	+	Frame_Shift_Del	DEL	T	T	-													cttctggcctcgtcacggaaTttttttatactttctttcat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8002974_8002974AT>A	uc002miz.3	-	2	422	c.250_250AT>T	c.(250-252)ttcfs	p.F84fs	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	84					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGTCACGGAATTTTTTTATA	0.413													-	8002975	T	-	8002975	7	5	257	1	0	1	0	1	0	0	0	0	15909	1490	52	0	1153	0	TIMM44	19	8002975	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	91523	8002975	51126008	1591	128523											
CD320	51293	broad.mit.edu	37	chr19	8369983	8369983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccaggtgaggggcacgCataagccactggtgcggcac	16	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8369983C>T	uc002mjj.1	-	2	265	c.200G>A	c.(199-201)TGC>TAC	p.C67Y	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Intron	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	67	Extracellular (Potential).|LDL-receptor class A 1.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						GAGGGGCACGCATAAGCCACT	0.647													T	8369983	C	T	8369983	3	4	257	1	0	0	0	0	1	0	0	0	3004	710	25	2	664	2	CD320	19	8369983	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	367008	8369983	50759000	1592	128524											
HNRNPM	4670	broad.mit.edu	37	chr19	8550759	8550759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgcattggctctggcGtggagcgcatgggtgccggc	19	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8550759G>A	uc010dwe.2	+	14	1527	c.1447G>A	c.(1447-1449)GTG>ATG	p.V483M	HNRNPM_uc010xke.1_Missense_Mutation_p.V429M|HNRNPM_uc010dwd.2_Missense_Mutation_p.V444M|HNRNPM_uc002mka.2_Missense_Mutation_p.V348M|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	483	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|12.				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				0						TGGCTCTGGCGTGGAGCGCAT	0.677													A	8550759	G	A	8550759	3	1	257	1	0	0	0	0	1	0	0	0	7271	1145	40	1	1501	1	HNRNPM	19	8550759	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	180776	8550759	50578224	1593	128525											
MBD3L1	85509	broad.mit.edu	37	chr19	8953929	8953929	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaccaagaaggccgtcctgAaaaacgctaagaaaaaaagg	10	8	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8953929A>T	uc002mko.2	+	1	661	c.575A>T	c.(574-576)GAA>GTA	p.E192V		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGCCGTCCTGAAAAACGCTAA	0.423													T	8953929	A	T	8953929	3	4	257	1	0	0	0	0	1	0	0	0	9345	246	9	5	577	5	MBD3L1	19	8953929	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	403170	8953929	50175054	1594	128526											
MUC16	94025	broad.mit.edu	37	chr19	8993496	8993496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcctgtggggtcagggcGgtgggtgcagatggcatcca	20	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8993496G>A	uc002mkp.2	-	66	41797	c.41593C>T	c.(41593-41595)CGC>TGC	p.R13865C	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R682C|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13868	Extracellular (Potential).|SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGTCAGGGCGGTGGGTGCAG	0.592													A	8993496	G	A	8993496	3	1	257	1	0	0	0	0	1	0	0	0	9973	1116	39	1	2006	1	MUC16	19	8993496	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	39567	8993496	50135487	1595	128527											
MUC16	94025	broad.mit.edu	37	chr19	9000464	9000464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctgaaggactctctccGtggtgttaaactttctagag	10	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:9000464G>A	uc002mkp.2	-	54	40724	c.40520C>T	c.(40519-40521)ACG>ATG	p.T13507M	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T324M|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13509	SEA 10.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GACTCTCTCCGTGGTGTTAAA	0.507													A	9000464	G	A	9000464	3	1	257	1	0	0	0	0	1	0	0	0	9973	1145	40	1	3127	1	MUC16	19	9000464	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6968	9000464	50128519	1596	128528											
ICAM1	3383	broad.mit.edu	37	chr19	10385679	10385679	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgatgggcagtcaacAgctaaaaccttcctcaccgt	8	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10385679A>G	uc002mnq.2	+	2	625	c.306A>G	c.(304-306)ACA>ACG	p.T102T	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	102	Extracellular (Potential).|Ig-like C2-type 1.				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGCAGTCAACAGCTAAAACCT	0.557													G	10385679	A	G	10385679	2	3	257	1	0	0	0	0	0	0	0	1	7479	175	7	3		3	ICAM1	19	10385679	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1385215	10385679	48743304	1597	128529											
FDX1L	112812	broad.mit.edu	37	chr19	10421567	10421567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagatccaggtggtcttcActcacatacacatggcaggt	11	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10421567A>G	uc002mny.1	-	4	376	c.357T>C	c.(355-357)AGT>AGC	p.S119S	ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like precursor	119	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GGTGGTCTTCACTCACATACA	0.632													G	10421567	A	G	10421567	2	3	257	1	0	0	0	0	0	0	0	1	5805	156	6	3		3	FDX1L	19	10421567	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	35888	10421567	48707416	1598	128530											
TYK2	7297	broad.mit.edu	37	chr19	10463634	10463634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccccatcctcgcgcacGcggtagtactcgtggccttc	10	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10463634G>A	uc002moc.3	-	22	3546	c.3168C>T	c.(3166-3168)CGC>CGT	p.R1056R	TYK2_uc010dxe.2_Silent_p.R871R	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1056	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			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCGCGCACGCGGTAGTACT	0.657													A	10463634	G	A	10463634	2	1	257	1	0	0	0	0	0	0	0	1	16807	1074	38	1		1	TYK2	19	10463634	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	42067	10463634	48665349	1599	128531											
TYK2	7297	broad.mit.edu	37	chr19	10463657	10463657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtactcgtggccttcggGcacggccttggctaggccaa	14	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10463657G>A	uc002moc.3	-	22	3523	c.3145C>T	c.(3145-3147)CCC>TCC	p.P1049S	TYK2_uc010dxe.2_Missense_Mutation_p.P864S	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1049	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			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCCTTCGGGCACGGCCTTG	0.662													A	10463657	G	A	10463657	3	1	257	1	0	0	0	0	1	0	0	0	16807	1203	42	2	434	2	TYK2	19	10463657	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	23	10463657	48665326	1600	128532											
DNM2	1785	broad.mit.edu	37	chr19	10893692	10893692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagggcaagaaggacatcCgtgcagcactggcagctgag	15	9	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10893692C>T	uc002mps.1	+	6	909	c.745C>T	c.(745-747)CGT>TGT	p.R249C	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.R249C|DNM2_uc002mpv.1_Missense_Mutation_p.R249C|DNM2_uc002mpu.1_Missense_Mutation_p.R249C|DNM2_uc010dxl.1_Missense_Mutation_p.R249C|DNM2_uc002mpw.2_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	249					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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGGACATCCGTGCAGCACT	0.607													T	10893692	C	T	10893692	3	4	257	1	0	0	0	0	1	0	0	0	4672	652	23	1	767	1	DNM2	19	10893692	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	430035	10893692	48235291	1601	128533											
KANK2	25959	broad.mit.edu	37	chr19	11289278	11289278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgcttgcctggtgggCtccctgtgggtgggctcctg	18	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11289278C>T	uc010dxv.2	-	7	1926	c.1368G>A	c.(1366-1368)GAG>GAA	p.E456E	KANK2_uc002mqm.2_Silent_p.E456E|KANK2_uc002mqo.3_Silent_p.E456E|KANK2_uc002mqp.1_Silent_p.E265E	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	456											0						GCCTGGTGGGCTCCCTGTGGG	0.692													T	11289278	C	T	11289278	2	4	257	1	0	0	0	0	0	0	0	1	7977	796	28	2		2	KANK2	19	11289278	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	395586	11289278	47839705	1602	128534											
CCDC159	126075	broad.mit.edu	37	chr19	11465355	11465355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacctttcagcaagagcgGccgctccttcccacccggtg	10	18	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11465355G>A	uc010xlw.1	+	11	1200	c.1121G>A	c.(1120-1122)GGC>GAC	p.G374D	CCDC159_uc010xlt.1_Missense_Mutation_p.G291D|LPPR2_uc002mre.1_5'Flank|LPPR2_uc002mrf.1_5'Flank	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	coiled-coil domain-containing-like	406										ovary(1)	1						AGCAAGAGCGGCCGCTCCTTC	0.647													A	11465355	G	A	11465355	3	1	257	1	0	0	0	0	1	0	0	0	2791	1203	42	2	910	2	CCDC159	19	11465355	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	176077	11465355	47663628	1603	128535											
ELAVL3	1995	broad.mit.edu	37	chr19	11577437	11577437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctgtgatcttgtccCgaaccaacttgcaggactcg	8	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11577437C>T	uc002mry.1	-	2	595	c.215G>A	c.(214-216)CGG>CAG	p.R72Q	ELAVL3_uc002mrx.1_Missense_Mutation_p.R72Q	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	72	RRM 1.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						GATCTTGTCCCGAACCAACTT	0.562													T	11577437	C	T	11577437	3	4	257	1	0	0	0	0	1	0	0	0	5051	652	23	1	912	1	ELAVL3	19	11577437	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	112082	11577437	47551546	1604	128536											
ZNF653	115950	broad.mit.edu	37	chr19	11598444	11598444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcacaggcaccggcacGcacaccactgtctccagggc	10	17	1	0	rs142746343		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11598444G>A	uc002mrz.1	-	4	887	c.834C>T	c.(832-834)TGC>TGT	p.C278C		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCACCGGCACGCACACCACTG	0.677													A	11598444	G	A	11598444	2	1	257	1	0	0	0	0	0	0	0	1	18063	1079	38	1		1	ZNF653	19	11598444	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	21007	11598444	47530539	1605	128537											
ACP5	54	broad.mit.edu	37	chr19	11687248	11687248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccaggacagctgtgtgCgggccagcttcacgtctcgg	15	12	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11687248C>T	uc002msg.3	-	4	691	c.545G>A	c.(544-546)CGC>CAC	p.R182H	ACP5_uc002msh.3_Missense_Mutation_p.R182H|ACP5_uc002msi.3_Missense_Mutation_p.R182H|ACP5_uc002msj.3_Missense_Mutation_p.R182H	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	182					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						CAGCTGTGTGCGGGCCAGCTT	0.612													T	11687248	C	T	11687248	3	4	257	1	0	0	0	0	1	0	0	0	164	768	27	1	440	1	ACP5	19	11687248	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	88804	11687248	47441735	1606	128538											
ZNF490	57474	broad.mit.edu	37	chr19	12693682	12693682	+	Frame_Shift_Del	DEL	T	T	-													accttagatttcttccctggTttttgtgttcatcttcaata							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12693681_12693681GT>G	uc002mtz.2	-	3	462	c.333_333AC>C	c.(331-333)aacfs	p.N111fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCTTCCCTGGTTTTTGTGTT	0.313													-	12693682	T	-	12693682	7	5	257	1	0	1	0	1	0	0	0	0	17938	1725	60	0	1265	0	ZNF490	19	12693682	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	1006434	12693682	46435301	1607	128539											
WDR83	84292	broad.mit.edu	37	chr19	12783928	12783928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacaggggagctgctgggCgagtgagtccttgtggtcgt	18	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12783928C>T	uc002mue.3	+	9	1016	c.681C>T	c.(679-681)GGC>GGT	p.G227G	WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_Silent_p.G227G	NM_001099737	NP_001093207	Q9BRX9	WDR83_HUMAN	mitogen-activated protein kinase organizer 1	227	WD 5.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				lung(1)|breast(1)	2						AGCTGCTGGGCGAGTGAGTCC	0.637													T	12783928	C	T	12783928	2	4	257	1	0	0	0	0	0	0	0	1	17329	755	27	1		1	WDR83	19	12783928	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	90246	12783928	46345055	1608	128540											
FBXW9	84261	broad.mit.edu	37	chr19	12800607	12800607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagccgttgcggttggCgaagacgtgcagcaggccct	16	11	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12800607C>T	uc010dyx.2	-	7	1174	c.1174G>A	c.(1174-1176)GCC>ACC	p.A392T	FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.A372T|FBXW9_uc002mun.1_Missense_Mutation_p.A209T	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	402	WD 5.						protein binding			ovary(1)	1						TTGCGGTTGGCGAAGACGTGC	0.647													T	12800607	C	T	12800607	3	4	257	1	0	0	0	0	1	0	0	0	5771	768	27	1	278	1	FBXW9	19	12800607	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	16679	12800607	46328376	1609	128541											
JUNB	3726	broad.mit.edu	37	chr19	12902771	12902771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggacccggcccagagggCggcggtggcggcagctactt	18	14	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12902771C>T	uc002mvc.2	+	1	462	c.186C>T	c.(184-186)GGC>GGT	p.G62G	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	62						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						GCCCAGAGGGCGGCGGTGGCG	0.652													T	12902771	C	T	12902771	2	4	257	1	0	0	0	0	0	0	0	1	7970	755	27	1		1	JUNB	19	12902771	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	102164	12902771	46226212	1610	128542											
DAND5	199699	broad.mit.edu	37	chr19	13080609	13080609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacctgggctctgggcccAggggccctgcccccactggt	14	17	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:13080609A>G	uc002mwc.1	+	1	178	c.135A>G	c.(133-135)CCA>CCG	p.P45P	DAND5_uc010dyz.1_Silent_p.P75P	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	45						extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CTCTGGGCCCAGGGGCCCTGC	0.677													G	13080609	A	G	13080609	2	3	257	1	0	0	0	0	0	0	0	1	4230	175	7	3		3	DAND5	19	13080609	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	177838	13080609	46048374	1611	128543											
CACNA1A	773	broad.mit.edu	37	chr19	13414693	13414693	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgttccagtcttcgcccgtCaggatctgaaaggggaggaa	13	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:13414693C>T	uc010dze.2	-	16	2231	c.1995G>A	c.(1993-1995)CTG>CTA	p.L665L	CACNA1A_uc010dzc.2_Silent_p.L190L|CACNA1A_uc002mwy.3_Silent_p.L664L|CACNA1A_uc010xne.1_Silent_p.L190L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	665	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTTCGCCCGTCAGGATCTGAA	0.602													T	13414693	C	T	13414693	2	4	257	1	0	0	0	0	0	0	0	1	2538	813	29	4		4	CACNA1A	19	13414693	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	334084	13414693	45714290	1612	128544											
CCDC105	126402	broad.mit.edu	37	chr19	15133898	15133898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgggacccgcgcacgccGccgccgcgcagcaagagcag	15	17	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:15133898G>A	uc002nae.2	+	7	1566	c.1467G>A	c.(1465-1467)CCG>CCA	p.P489P		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	489					microtubule cytoskeleton organization	microtubule				ovary(1)	1						CGCGCACGCCGCCGCCGCGCA	0.711													A	15133898	G	A	15133898	2	1	257	1	0	0	0	0	0	0	0	1	2740	1074	38	1		1	CCDC105	19	15133898	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1719205	15133898	43995085	1613	128545											
C19orf44	84167	broad.mit.edu	37	chr19	16620476	16620476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggagcatctcagtgccaGctcggcttctgccatccagc	10	16	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:16620476G>A	uc002neh.1	+	5	1389	c.1316G>A	c.(1315-1317)AGC>AAC	p.S439N	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S439N|C19orf44_uc002neg.2_Missense_Mutation_p.S439N|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	439											0						CTCAGTGCCAGCTCGGCTTCT	0.612													A	16620476	G	A	16620476	3	1	257	1	0	0	0	0	1	0	0	0	1927	971	34	2	1330	2	C19orf44	19	16620476	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1486578	16620476	42508507	1614	128546											
SLC27A1	376497	broad.mit.edu	37	chr19	17597507	17597507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggatgccgggaccggCgagtgctggacctttgcgca	17	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17597507C>T	uc002ngu.1	+	2	353	c.303C>T	c.(301-303)GGC>GGT	p.G101G	SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	101	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						CCGGGACCGGCGAGTGCTGGA	0.697													T	17597507	C	T	17597507	2	4	257	1	0	0	0	0	0	0	0	1	14525	755	27	1		1	SLC27A1	19	17597507	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	977031	17597507	41531476	1615	128547											
FAM129C	199786	broad.mit.edu	37	chr19	17641670	17641670	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccctcaggagccgacCggaagccagttgctacgcag	14	14	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17641670C>A	uc010xpr.1	+	3	393	c.255C>A	c.(253-255)ACC>ACA	p.T85T	FAM129C_uc010xpq.1_Silent_p.T85T|FAM129C_uc010xps.1_Silent_p.T54T|FAM129C_uc010xpt.1_Intron	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	85											0						AGGAGCCGACCGGAAGCCAGT	0.632													A	17641670	C	A	17641670	2	1	257	1	0	0	0	0	0	0	0	1	5438	639	23	5		5	FAM129C	19	17641670	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	44163	17641670	41487313	1616	128548											
UNC13A	23025	broad.mit.edu	37	chr19	17752292	17752292	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcgtagtaaaccttccagGcatcgtcacccttggcatct	7	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17752292G>C	uc002nhd.2	-	21	2810	c.2810C>G	c.(2809-2811)GCC>GGC	p.A937G		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	849					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						AACCTTCCAGGCATCGTCACC	0.547													C	17752292	G	C	17752292	3	2	257	1	0	0	0	0	1	0	0	0	16981	1203	42	5	2657	5	UNC13A	19	17752292	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	110622	17752292	41376691	1617	128549											
UNC13A	23025	broad.mit.edu	37	chr19	17785510	17785510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctggctgccccgcaccgcGatggtcgtgctcttgacatt	13	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17785510G>A	uc002nhd.2	-	4	372	c.372C>T	c.(370-372)ATC>ATT	p.I124I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	36	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CCCGCACCGCGATGGTCGTGC	0.592													A	17785510	G	A	17785510	2	1	257	1	0	0	0	0	0	0	0	1	16981	1048	37	1		1	UNC13A	19	17785510	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	33218	17785510	41343473	1618	128550											
SFRS14	10147	broad.mit.edu	37	chr19	19135651	19135651	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagctatatcttgcaggccGacagcttctaagattttctc	9	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:19135651G>A	uc002nkx.2	-	3	1652	c.1506C>T	c.(1504-1506)GTC>GTT	p.V502V	SFRS14_uc002nkz.1_Silent_p.V516V|SFRS14_uc002nla.1_Silent_p.V502V|SFRS14_uc002nlb.2_Silent_p.V502V|SFRS14_uc010xqk.1_Silent_p.V271V	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	502					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CTTGCAGGCCGACAGCTTCTA	0.507													A	19135651	G	A	19135651	2	1	257	1	0	0	0	0	0	0	0	1	14170	1045	37	1		1	SFRS14	19	19135651	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1350141	19135651	39993332	1619	128551											
TSSK6	83983	broad.mit.edu	37	chr19	19625628	19625628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacccggtgaccatgacGtagagcacgacgcccatgct	11	14	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:19625628G>A	uc002nmr.2	-	1	842	c.609C>T	c.(607-609)TAC>TAT	p.Y203Y	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	203	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						TGACCATGACGTAGAGCACGA	0.662													A	19625628	G	A	19625628	2	1	257	1	0	0	0	0	0	0	0	1	16669	1140	40	1		1	TSSK6	19	19625628	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	489977	19625628	39503355	1620	128552											
CILP2	148113	broad.mit.edu	37	chr19	19655446	19655446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggaggagagcggcttcCggcgcgaggggtcctcgggc	22	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:19655446C>T	uc002nmv.3	+	8	2177	c.2092C>T	c.(2092-2094)CGG>TGG	p.R698W	CILP2_uc002nmw.3_Missense_Mutation_p.R704W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	698						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GAGCGGCTTCCGGCGCGAGGG	0.706													T	19655446	C	T	19655446	3	4	257	1	0	0	0	0	1	0	0	0	3430	643	23	1	2122	1	CILP2	19	19655446	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	29818	19655446	39473537	1621	128553											
ZNF208	7757	broad.mit.edu	37	chr19	22157258	22157258	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattctctctagtataaattCttttatgttgagataggtgt	7	4	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:22157258C>A	uc002nqp.2	-	4	727	c.578G>T	c.(577-579)AGA>ATA	p.R193I	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATAAATTCTTTTATGTTG	0.353													A	22157258	C	A	22157258	3	1	257	1	0	0	0	0	1	0	0	0	17763	913	32	5	3268	5	ZNF208	19	22157258	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2501812	22157258	36971725	1622	128554											
ZNF208	7757	broad.mit.edu	37	chr19	22157493	22157493	+	Frame_Shift_Del	DEL	T	T	-													atccacattggtataaccaaTttttaagtgtaaattctcat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:22157492_22157492AT>A	uc021urr.1	-	3	493	c.344_344AT>T	c.(343-345)attfs	p.I115fs	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				GGTATAACCAATTTTTAAGTG	0.368													-	22157493	T	-	22157493	7	5	257	1	0	1	0	1	0	0	0	0	17763	1493	52	0	3503	0	ZNF208	19	22157493	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	235	22157493	36971490	1623	128555											
ZNF507	22847	broad.mit.edu	37	chr19	32845589	32845589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacaacgcccagtgccAacccaacagcgatacaagtt	9	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:32845589A>G	uc002nte.2	+	3	2125	c.1853A>G	c.(1852-1854)CAA>CGA	p.Q618R	ZNF507_uc002ntc.2_Missense_Mutation_p.Q618R|ZNF507_uc010xrn.1_Missense_Mutation_p.Q618R|ZNF507_uc002ntd.2_Missense_Mutation_p.Q618R	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					GCCCAGTGCCAACCCAACAGC	0.483													G	32845589	A	G	32845589	3	3	257	1	0	0	0	0	1	0	0	0	17950	130	5	3	1855	3	ZNF507	19	32845589	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	10688096	32845589	26283394	1624	128556											
UBA2	10054	broad.mit.edu	37	chr19	34919408	34919408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccgggtgctggtggtggGggcgggcggcatcggctgcg	25	9	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:34919408G>T	uc002nvk.2	+	1	141	c.71G>T	c.(70-72)GGG>GTG	p.G24V	UBA2_uc010xrx.1_5'UTR|UBA2_uc002nvl.2_5'Flank	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	24	ATP.				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGGTGGTGGGGGCGGGCGGC	0.746													T	34919408	G	T	34919408	3	4	257	1	0	0	0	0	1	0	0	0	16825	1232	43	5	73	5	UBA2	19	34919408	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2073819	34919408	24209575	1625	128557											
GRAMD1A	57655	broad.mit.edu	37	chr19	35510163	35510163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctgacgtacaccatcCccatcagcaacccactgggc	10	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:35510163C>A	uc010xse.1	+	12	1419	c.1282C>A	c.(1282-1284)CCC>ACC	p.P428T	GRAMD1A_uc002nxk.2_Missense_Mutation_p.P421T|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P194T|GRAMD1A_uc010xsf.1_Missense_Mutation_p.P433T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.P43T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	428						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTACACCATCCCCATCAGCAA	0.677													A	35510163	C	A	35510163	3	1	257	1	0	0	0	0	1	0	0	0	6747	623	22	5	1328	5	GRAMD1A	19	35510163	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	590755	35510163	23618820	1626	128558											
USF2	7392	broad.mit.edu	37	chr19	35770093	35770093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagctgaagaatgagaaCgccctgcttcgagcccagct	13	11	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:35770093C>T	uc002nyq.1	+	10	1084	c.975C>T	c.(973-975)AAC>AAT	p.N325N	USF2_uc010xss.1_3'UTR|USF2_uc002nyr.1_Silent_p.N258N|USF2_uc002nys.1_Silent_p.N127N|USF2_uc002nyt.1_Silent_p.N194N|USF2_uc002nyu.1_Silent_p.N127N|USF2_uc002nyv.1_Silent_p.N119N	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	325	Leucine-zipper.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGAATGAGAACGCCCTGCTTC	0.697													T	35770093	C	T	35770093	2	4	257	1	0	0	0	0	0	0	0	1	17030	535	19	1		1	USF2	19	35770093	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	259930	35770093	23358890	1627	128559											
FFAR2	2867	broad.mit.edu	37	chr19	35940753	35940753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgcacctgtgcacaTcctcctgctgagcctgacgc	9	18	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:35940753T>C	uc002nzg.2	+	2	217	c.137T>C	c.(136-138)ATC>ACC	p.I46T	FFAR2_uc010eea.2_Missense_Mutation_p.I46T	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	46	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	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)			CCTGTGCACATCCTCCTGCTG	0.642													C	35940753	T	C	35940753	3	2	257	1	0	0	0	0	1	0	0	0	5828	1435	50	3	139	3	FFAR2	19	35940753	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	170660	35940753	23188230	1628	128560											
UPK1A	11045	broad.mit.edu	37	chr19	36166831	36166831	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaggtggtgttcccctgGcccccactgtgctgtcgccg	14	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36166831G>A	uc002oaw.2	+	5	558	c.558G>A	c.(556-558)TGG>TGA	p.W186*	UPK1A_uc010eeh.2_Nonsense_Mutation_p.W186*|uc002oax.1_5'Flank	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	186	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	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)			TGTTCCCCTGGCCCCCACTGT	0.622													A	36166831	G	A	36166831	4	1	257	1	0	0	0	0	0	1	0	0	17004	1212	42	2	576	2	UPK1A	19	36166831	Nonsense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	226078	36166831	22962152	1629	128561											
ZBTB32	27033	broad.mit.edu	37	chr19	36205601	36205601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagctagcagccaggctcCggccagcactctgtgatact	10	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36205601C>T	uc002oay.2	+	2	283	c.73C>T	c.(73-75)CGG>TGG	p.R25W	ZBTB32_uc002oaz.2_RNA	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	25					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			ovary(1)|skin(1)	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)			AGCCAGGCTCCGGCCAGCACT	0.632													T	36205601	C	T	36205601	3	4	257	1	0	0	0	0	1	0	0	0	17532	643	23	1	75	1	ZBTB32	19	36205601	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	38770	36205601	22923382	1630	128562											
LRFN3	79414	broad.mit.edu	37	chr19	36435548	36435548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtatgaggacagcgccaCggggctcacggccacgcggc	16	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36435548C>T	uc002oco.2	+	3	1966	c.1514C>T	c.(1513-1515)ACG>ATG	p.T505M		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	505	Extracellular (Potential).|Fibronectin type-III.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			GACAGCGCCACGGGGCTCACG	0.721													T	36435548	C	T	36435548	3	4	257	1	0	0	0	0	1	0	0	0	8939	536	19	1	1520	1	LRFN3	19	36435548	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	229947	36435548	22693435	1631	128563											
THAP8	199745	broad.mit.edu	37	chr19	36530862	36530862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttggcaggtggtcccCgggagaagatggagggcact	16	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36530862C>T	uc002oda.1	-	2	805	c.260G>A	c.(259-261)CGG>CAG	p.R87Q	uc002ocy.2_Intron|THAP8_uc010xtb.1_Missense_Mutation_p.R44Q|THAP8_uc010xtc.1_Intron	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	THAP domain containing 8	87							DNA binding|metal ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGTGGTCCCCGGGAGAAGAT	0.627													T	36530862	C	T	36530862	3	4	257	1	0	0	0	0	1	0	0	0	15847	652	23	1	576	1	THAP8	19	36530862	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	95314	36530862	22598121	1632	128564											
ZFP14	57677	broad.mit.edu	37	chr19	36831891	36831891	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctcaccAgtgtgaattctctgatgtcg	9	9	3	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36831891A>C	uc002odx.1	-	4	930	c.837T>G	c.(835-837)ACT>ACG	p.T279T	ZFP14_uc010xtd.1_Silent_p.T280T|ZFP14_uc010eex.1_Silent_p.T279T	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					GTTTCTCACCAGTGTGAATTC	0.433													C	36831891	A	C	36831891	2	2	257	1	0	0	0	0	0	0	0	1	17636	175	7	5		5	ZFP14	19	36831891	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	301029	36831891	22297092	1633	128565											
ZNF420	147923	broad.mit.edu	37	chr19	37619900	37619900	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatatcagtgagaaAtcttttgaatataaggaatg	8	3	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:37619900A>G	uc002ofl.2	+	5	2222	c.2007A>G	c.(2005-2007)AAA>AAG	p.K669K		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGTGAGAAATCTTTTGAAT	0.373													G	37619900	A	G	37619900	2	3	257	1	0	0	0	0	0	0	0	1	17894	98	4	3		3	ZNF420	19	37619900	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	788009	37619900	21509083	1634	128566											
ZNF585A	199704	broad.mit.edu	37	chr19	37644081	37644082	+	Frame_Shift_Del	DEL	TC	TC	-													cagtcagtgcattcatggtgTctctctccagtatgaatttt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:37644080_37644081GTC>G	uc002ofo.1	-	4	951_952	c.720_721GAC>C	c.(718-723)agacacfs	p.R240fs	ZNF585A_uc002ofm.1_Frame_Shift_Del_p.R185fs|ZNF585A_uc002ofn.1_Frame_Shift_Del_p.R185fs	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	240					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)			CATTCATGGTGTCTCTCTCCAG	0.421													-	37644082	TC	-	37644081	7	5	257	1	0	1	0	1	0	0	0	0	18014	1664	58	0	1593	0	ZNF585A	19	37644081	Frame_Shift_Del	DEL	TC	TCGA-HU-8602-01A-11D-2394-08	24181	37644081	21484902	1635	128567											
ZFP30	22835	broad.mit.edu	37	chr19	38127036	38127036	+	Frame_Shift_Del	DEL	T	T	-													gagttttctgtaagtaggcaTtttttcagaggtggtttttg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:38127035_38127035AT>A	uc002ogv.1	-	5	923	c.407_407AT>T	c.(406-408)atgfs	p.M136fs	ZFP30_uc002ogw.1_Frame_Shift_Del_p.M136fs|ZFP30_uc002ogx.1_Frame_Shift_Del_p.M136fs|ZFP30_uc010xtt.1_Frame_Shift_Del_p.M135fs	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	136					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)			GTAAGTAGGCATTTTTTCAGA	0.403													-	38127036	T	-	38127036	7	5	257	1	0	1	0	1	0	0	0	0	17641	1493	52	0	1157	0	ZFP30	19	38127036	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	482955	38127036	21001947	1636	128568											
ZNF607	84775	broad.mit.edu	37	chr19	38190550	38190550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcacgagcattaattttcTgatgctttctaaggtctgta	7	8	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:38190550T>C	uc002ohc.1	-	5	1078	c.482A>G	c.(481-483)CAG>CGG	p.Q161R	ZNF607_uc002ohb.1_Missense_Mutation_p.Q160R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	161	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTAATTTTCTGATGCTTTCT	0.388													C	38190550	T	C	38190550	3	2	257	1	0	0	0	0	1	0	0	0	18030	1580	55	3	1612	3	ZNF607	19	38190550	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	63514	38190550	20938433	1637	128569											
RYR1	6261	broad.mit.edu	37	chr19	38951087	38951087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctatgctccatgccaTgaggctgtgctccctcgaga	11	14	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:38951087T>C	uc002oit.2	+	20	2563	c.2433T>C	c.(2431-2433)CAT>CAC	p.H811H	RYR1_uc002oiu.2_Silent_p.H811H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	811	Cytoplasmic.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCATGCCATGAGGCTGTGC	0.627													C	38951087	T	C	38951087	2	2	257	1	0	0	0	0	0	0	0	1	13768	1461	51	3		3	RYR1	19	38951087	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	760537	38951087	20177896	1638	128570											
ACTN4	81	broad.mit.edu	37	chr19	39219765	39219765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggctgaccaggtcatcGcttccttcaaggtcttagca	9	13	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:39219765G>A	uc002oja.1	+	20	2607	c.2548G>A	c.(2548-2550)GCT>ACT	p.A850T	ACTN4_uc002ojb.1_Missense_Mutation_p.A172T	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	850				A -> T (in Ref. 3; AAC17470).	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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGTCATCGCTTCCTTCAA	0.637													A	39219765	G	A	39219765	3	1	257	1	0	0	0	0	1	0	0	0	207	1087	38	1	2626	1	ACTN4	19	39219765	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	268678	39219765	19909218	1639	128571											
ECH1	1891	broad.mit.edu	37	chr19	39306597	39306597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctggaaatctcggccGccagcgctaaggcagcatcc	11	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:39306597G>A	uc002oji.2	-	9	867	c.782C>T	c.(781-783)GCG>GTG	p.A261V	LGALS4_uc002ojg.2_5'Flank|LGALS4_uc010xuj.1_5'Flank|ECH1_uc002ojh.2_Missense_Mutation_p.A141V	NM_001398	NP_001389	Q13011	ECH1_HUMAN	peroxisomal enoyl-coenzyme A hydratase-like	261					fatty acid beta-oxidation|generation of precursor metabolites and energy	mitochondrion|peroxisome	enoyl-CoA hydratase activity|isomerase activity|protein binding			ovary(1)	1	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AATCTCGGCCGCCAGCGCTAA	0.617													A	39306597	G	A	39306597	3	1	257	1	0	0	0	0	1	0	0	0	4892	1087	38	1	212	1	ECH1	19	39306597	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	86832	39306597	19822386	1640	128572											
RINL	126432	broad.mit.edu	37	chr19	39361234	39361234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcgtccttcttggggaGcccaggacccctgcttccaa	9	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:39361234G>A	uc002ojq.2	-	8	1046	c.658C>T	c.(658-660)CTC>TTC	p.L220F	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.L334F	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	220							GTPase activator activity			pancreas(1)	1						TTCTTGGGGAGCCCAGGACCC	0.592													A	39361234	G	A	39361234	3	1	257	1	0	0	0	0	1	0	0	0	13375	971	34	2	720	2	RINL	19	39361234	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	54637	39361234	19767749	1641	128573											
SELV	348303	broad.mit.edu	37	chr19	40006574	40006574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccatcccgtcggccaTctccttacagaattgtacgg	11	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:40006574T>C	uc010xvc.1	+	1	822	c.722T>C	c.(721-723)ATC>ACC	p.I241T		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	241					cell redox homeostasis		selenium binding				0	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;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCGTCGGCCATCTCCTTACAG	0.617													C	40006574	T	C	40006574	3	2	257	1	0	0	0	0	1	0	0	0	14023	1435	50	3	724	3	SELV	19	40006574	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	645340	40006574	19122409	1642	128574											
C19orf47	126526	broad.mit.edu	37	chr19	40832287	40832287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgcgggtgcggggtgtGgtgcctttgggcatgttgat	18	6	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:40832287G>A	uc002oni.3	-	7	658	c.657C>T	c.(655-657)ACC>ACT	p.T219T	C19orf47_uc002ong.2_Silent_p.T78T|C19orf47_uc002onh.2_Silent_p.T152T	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	219										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGCGGGGTGTGGTGCCTTTGG	0.652													A	40832287	G	A	40832287	2	1	257	1	0	0	0	0	0	0	0	1	1930	1335	47	4		4	C19orf47	19	40832287	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	825713	40832287	18296696	1643	128575											
LTBP4	8425	broad.mit.edu	37	chr19	41135394	41135394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccgctgcatctgccGcccgggattcgcacccacgc	9	20	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41135394G>A	uc002ooh.1	+	34	4814	c.4814G>A	c.(4813-4815)CGC>CAC	p.R1605H	LTBP4_uc002oog.1_Missense_Mutation_p.R1568H|LTBP4_uc002ooi.1_Missense_Mutation_p.R1538H|LTBP4_uc002ooj.1_Missense_Mutation_p.R478H|LTBP4_uc002ool.1_Missense_Mutation_p.R617H|LTBP4_uc010xvp.1_Missense_Mutation_p.R365H	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1605	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)			TGCATCTGCCGCCCGGGATTC	0.721													A	41135394	G	A	41135394	3	1	257	1	0	0	0	0	1	0	0	0	9076	1087	38	1	5236	1	LTBP4	19	41135394	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	303107	41135394	17993589	1644	128576											
AXL	558	broad.mit.edu	37	chr19	41759598	41759598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatacaccgggacctggCggccaggaactgcatgtgag	13	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41759598C>T	uc010ehj.2	+	17	2211	c.2021C>T	c.(2020-2022)GCG>GTG	p.A674V	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.A665V	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	674	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CGGGACCTGGCGGCCAGGAAC	0.582													T	41759598	C	T	41759598	3	4	257	1	0	0	0	0	1	0	0	0	1238	768	27	1	2087	1	AXL	19	41759598	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	624204	41759598	17369385	1645	128577											
AXL	558	broad.mit.edu	37	chr19	41763458	41763458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaccccatatccgggcGtggagaacagcgagatttat	11	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41763458G>A	uc010ehj.2	+	19	2447	c.2257G>A	c.(2257-2259)GTG>ATG	p.V753M	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.V744M	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	753	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						ATATCCGGGCGTGGAGAACAG	0.567													A	41763458	G	A	41763458	3	1	257	1	0	0	0	0	1	0	0	0	1238	1145	40	1	2331	1	AXL	19	41763458	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3860	41763458	17365525	1646	128578											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41782157	41782157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctgtggtcaggagcccGtgccagctatggggtcagaa	14	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41782157G>A	uc002oqb.3	+	5	1029	c.740G>A	c.(739-741)CGT>CAT	p.R247H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R147H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R247H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R204H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R147H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R147H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R103H|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.R147H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	247	B30.2/SPRY.|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			central_nervous_system(1)|skin(1)	2						TCAGGAGCCCGTGCCAGCTAT	0.532													A	41782157	G	A	41782157	3	1	257	1	0	0	0	0	1	0	0	0	7274	1145	40	1	758	1	HNRNPUL1	19	41782157	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	18699	41782157	17346826	1647	128579											
B9D2	80776	broad.mit.edu	37	chr19	41869382	41869382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctactttccgagaaacCgctggcccctatgatctgcc	10	14	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41869382C>T	uc002oqj.2	-	2	263	c.43G>A	c.(43-45)GGT>AGT	p.G15S	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron|TMEM91_uc010ehq.2_5'Flank	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	15	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						TCCGAGAAACCGCTGGCCCCT	0.463													T	41869382	C	T	41869382	3	4	257	1	0	0	0	0	1	0	0	0	1278	652	23	1	496	1	B9D2	19	41869382	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	87225	41869382	17259601	1648	128580											
TMEM91	641649	broad.mit.edu	37	chr19	41888686	41888686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccgtaggacatgtcaTccagtgacagtgactcggac	11	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41888686T>C	uc002oqk.3	+	3	571	c.220T>C	c.(220-222)TCC>CCC	p.S74P	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.S74P|TMEM91_uc010ehq.2_Missense_Mutation_p.S74P|TMEM91_uc002oql.2_Missense_Mutation_p.S74P|TMEM91_uc010ehr.2_Missense_Mutation_p.S74P|TMEM91_uc010ehs.2_Missense_Mutation_p.S74P|TMEM91_uc010eht.2_Missense_Mutation_p.S74P|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Missense_Mutation_p.S74P	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	74					response to biotic stimulus	integral to membrane					0						GGACATGTCATCCAGTGACAG	0.557													C	41888686	T	C	41888686	3	2	257	1	0	0	0	0	1	0	0	0	16217	1435	50	3	226	3	TMEM91	19	41888686	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	19304	41888686	17240297	1649	128581											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406950	42406950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaagctgagagccgccCgcggtgccgccgcctgcagc	16	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42406950C>T	uc002orx.2	+	18	1749	c.1640C>T	c.(1639-1641)CCG>CTG	p.P547L	ARHGEF1_uc002ory.2_Missense_Mutation_p.P514L|ARHGEF1_uc002orz.2_Missense_Mutation_p.P385L|ARHGEF1_uc002osa.2_Missense_Mutation_p.P562L|ARHGEF1_uc002osb.2_Missense_Mutation_p.P529L|ARHGEF1_uc002osc.2_Missense_Mutation_p.P301L|ARHGEF1_uc002osd.2_Missense_Mutation_p.P206L|ARHGEF1_uc002ose.2_5'UTR	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	547	DH.				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			ovary(3)|large_intestine(1)	4		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)		GAGAGCCGCCCGCGGTGCCGC	0.587													T	42406950	C	T	42406950	3	4	257	1	0	0	0	0	1	0	0	0	893	652	23	1	1755	1	ARHGEF1	19	42406950	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	518264	42406950	16722033	1650	128582											
ZNF574	64763	broad.mit.edu	37	chr19	42585031	42585031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgcaggtgcaccggcGcatccacacaggtgagcggc	14	14	1	1	rs142044419		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42585031G>A	uc002osm.3	+	2	2442	c.2273G>A	c.(2272-2274)CGC>CAC	p.R758H	ZNF574_uc002osk.3_Missense_Mutation_p.R848H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	758	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GTGCACCGGCGCATCCACACA	0.637													A	42585031	G	A	42585031	3	1	257	1	0	0	0	0	1	0	0	0	18003	1087	38	1	2275	1	ZNF574	19	42585031	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	178081	42585031	16543952	1651	128583											
GSK3A	2931	broad.mit.edu	37	chr19	42738768	42738768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttctggggcttgatgtcGcggtgacacacgccctggga	16	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42738768G>A	uc002otb.1	-	5	848	c.729C>T	c.(727-729)CGC>CGT	p.R243R	GSK3A_uc002ota.1_Silent_p.R161R|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	243	Protein kinase.				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			ovary(2)|lung(2)	4		Prostate(69;0.00682)				GCTTGATGTCGCGGTGACACA	0.602													A	42738768	G	A	42738768	2	1	257	1	0	0	0	0	0	0	0	1	6823	1074	38	1		1	GSK3A	19	42738768	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	153737	42738768	16390215	1652	128584											
CIC	23152	broad.mit.edu	37	chr19	42794441	42794441	+	Frame_Shift_Del	DEL	C	C	-													tcctcctttacccactgccgCcccccactggaccctgagcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42794440_42794440GC>G	uc002otf.1	+	9	1560	c.1520_1520GC>G	c.(1519-1521)cgcfs	p.R507fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	507					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)				ACCCACTGCCGCCCCCCACTG	0.622			"Mis, F, S"		oligodendroglioma								-	42794441	C	-	42794441	7	5	257	1	0	1	0	1	0	0	0	0	3424	726	26	0	1559	0	CIC	19	42794441	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	55673	42794441	16334542	1653	128585											
CIC	23152	broad.mit.edu	37	chr19	42794627	42794627	+	Frame_Shift_Del	DEL	C	C	-													ggtcagggcagcacagcgggCcccctacggcccccaccccc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42794626_42794626GC>G	uc002otf.1	+	9	1746	c.1706_1706GC>G	c.(1705-1707)ggcfs	p.G569fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	569	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)				AGCACAGCGGGCCCCCTACGG	0.677			"Mis, F, S"		oligodendroglioma								-	42794627	C	-	42794627	7	5	257	1	0	1	0	1	0	0	0	0	3424	726	26	0	1745	0	CIC	19	42794627	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	186	42794627	16334356	1654	128586											
ZNF227	7770	broad.mit.edu	37	chr19	44740652	44740652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaaaaccttacaaatGtgaagagtgtgggaaaggct	13	4	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:44740652G>C	uc002oyu.2	+	6	2274	c.2069G>C	c.(2068-2070)TGT>TCT	p.C690S	ZNF227_uc010xwu.1_Missense_Mutation_p.C639S|ZNF227_uc002oyv.2_Missense_Mutation_p.C690S|ZNF227_uc010xwv.1_Missense_Mutation_p.C639S|ZNF227_uc010xww.1_Missense_Mutation_p.C611S|ZNF227_uc002oyw.2_Missense_Mutation_p.C662S|ZNF227_uc010ejh.2_Missense_Mutation_p.C683S|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	690	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				CCTTACAAATGTGAAGAGTGT	0.453													C	44740652	G	C	44740652	3	2	257	1	0	0	0	0	1	0	0	0	17778	1377	48	5	2083	5	ZNF227	19	44740652	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1946025	44740652	14388331	1655	128587											
ZNF229	7772	broad.mit.edu	37	chr19	44947008	44947008	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtcacctcttttctcAtgccttgaggtcaaagtctc	7	12	5	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:44947008A>G	uc002oze.1	-	3	458	c.24T>C	c.(22-24)CAT>CAC	p.H8H	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.H8H	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				CTCTTTTCTCATGCCTTGAGG	0.473													G	44947008	A	G	44947008	2	3	257	1	0	0	0	0	0	0	0	1	17779	214	8	3		3	ZNF229	19	44947008	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	206356	44947008	14181975	1656	128588											
ZNF180	7733	broad.mit.edu	37	chr19	44982020	44982020	+	Frame_Shift_Del	DEL	T	T	-													acagcagcattaagatgccaTtttttagcatgtgatacatg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:44982019_44982019AT>A	uc002ozf.4	-	4	961	c.679_679AT>T	c.(679-681)tggfs	p.W227fs	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Frame_Shift_Del_p.W200fs|ZNF180_uc002ozg.4_Frame_Shift_Del_p.W226fs|ZNF180_uc010ejm.3_Frame_Shift_Del_p.W202fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	227					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)				TTAAGATGCCATTTTTTAGCA	0.368													-	44982020	T	-	44982020	7	5	257	1	0	1	0	1	0	0	0	0	17745	1490	52	0	1404	0	ZNF180	19	44982020	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	35012	44982020	14146963	1657	128589											
CLPTM1	1209	broad.mit.edu	37	chr19	45493718	45493718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctccgtcttcttcggcGttttccagtcattcgtggtc	10	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45493718G>A	uc002pai.2	+	10	1213	c.1198G>A	c.(1198-1200)GTT>ATT	p.V400I	CLPTM1_uc010xxf.1_Missense_Mutation_p.V298I|CLPTM1_uc010xxg.1_Missense_Mutation_p.V386I	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	400	Helical; (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTTCTTCGGCGTTTTCCAGTC	0.597													A	45493718	G	A	45493718	3	1	257	1	0	0	0	0	1	0	0	0	3554	1145	40	1	1236	1	CLPTM1	19	45493718	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	511698	45493718	13635265	1658	128590											
ZNF296	162979	broad.mit.edu	37	chr19	45575703	45575703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccaggcccaggagcGgggcctccggggcctctgat	16	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45575703G>A	uc002pao.2	-	3	641	c.584C>T	c.(583-585)CCG>CTG	p.P195L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	195					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCCAGGAGCGGGGCCTCCGG	0.682													A	45575703	G	A	45575703	3	1	257	1	0	0	0	0	1	0	0	0	17825	1116	39	1	847	1	ZNF296	19	45575703	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	81985	45575703	13553280	1659	128591											
KLC3	147700	broad.mit.edu	37	chr19	45852769	45852769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagggcaagtttgaggAcgtggagcggcactatgccc	15	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45852769A>G	uc002pbf.1	+	8	1167	c.1052A>G	c.(1051-1053)GAC>GGC	p.D351G	KLC3_uc010ejy.1_Missense_Mutation_p.D350G|KLC3_uc002pbg.1_Missense_Mutation_p.D365G	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	351	TPR 4.					cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AAGTTTGAGGACGTGGAGCGG	0.647													G	45852769	A	G	45852769	3	3	257	1	0	0	0	0	1	0	0	0	8335	275	10	3	1078	3	KLC3	19	45852769	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	277066	45852769	13276214	1660	128592											
KLC3	147700	broad.mit.edu	37	chr19	45854275	45854275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggctcctgggactcaGgtgagggggacatctgggtc	17	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45854275G>T	uc002pbf.1	+	12	1558	c.1443G>T	c.(1441-1443)CAG>CAT	p.Q481H	KLC3_uc010ejy.1_Missense_Mutation_p.Q480H|KLC3_uc002pbg.1_Missense_Mutation_p.Q495H	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	481						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGGACTCAGGTGAGGGGGA	0.567													T	45854275	G	T	45854275	3	4	257	1	0	0	0	0	1	0	0	0	8335	1014	35	5	1485	5	KLC3	19	45854275	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1506	45854275	13274708	1661	128593											
CD3EAP	10849	broad.mit.edu	37	chr19	45912587	45912587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggacagcctgaagccaGggcaactccgggatccacca	14	13	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45912587G>T	uc002pbq.1	+	3	1849	c.1361G>T	c.(1360-1362)AGG>ATG	p.R454M	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.R456M	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	454					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCTGAAGCCAGGGCAACTCCG	0.517													T	45912587	G	T	45912587	3	4	257	1	0	0	0	0	1	0	0	0	3012	1000	35	5	1371	5	CD3EAP	19	45912587	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	58312	45912587	13216396	1662	128594											
PPP5C	5536	broad.mit.edu	37	chr19	46879730	46879730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgaggatgagtacagcGgacccaagcttgaagacggc	13	10	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:46879730G>A	uc002pem.2	+	4	592	c.532G>A	c.(532-534)GGA>AGA	p.G178R	PPP5C_uc010xya.1_Missense_Mutation_p.G45R|PPP5C_uc002pen.2_Missense_Mutation_p.G178R	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	178					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			lung(1)|pancreas(1)	2		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)		TGAGTACAGCGGACCCAAGCT	0.537													A	46879730	G	A	46879730	3	1	257	1	0	0	0	0	1	0	0	0	12406	1117	39	1	546	1	PPP5C	19	46879730	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	967143	46879730	12249253	1663	128595											
DHX34	9704	broad.mit.edu	37	chr19	47883099	47883099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggcttccctgcggctcCgtgcccgctgggaaagtgcc	15	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47883099C>T	uc010xyn.1	+	14	3180	c.2839C>T	c.(2839-2841)CGT>TGT	p.R947C	DHX34_uc010xyo.1_Missense_Mutation_p.R76C	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	947						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGCGGCTCCGTGCCCGCTG	0.672													T	47883099	C	T	47883099	3	4	257	1	0	0	0	0	1	0	0	0	4507	652	23	1	2889	1	DHX34	19	47883099	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1003369	47883099	11245884	1664	128596											
SLC8A2	6543	broad.mit.edu	37	chr19	47969321	47969321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccacgctggtctcacCgttggccttggtgatggtga	15	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47969321C>T	uc002pgx.2	-	2	618	c.340G>A	c.(340-342)GGT>AGT	p.G114S	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.G114S	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	114	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		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)		CTGGTCTCACCGTTGGCCTTG	0.577													T	47969321	C	T	47969321	3	4	257	1	0	0	0	0	1	0	0	0	14707	652	23	1	2461	1	SLC8A2	19	47969321	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	86222	47969321	11159662	1665	128597											
KPTN	11133	broad.mit.edu	37	chr19	47986421	47986421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggggacactcactccGcatggcacagctggaacgga	14	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47986421G>A	uc002pgy.2	-	4	550	c.446C>T	c.(445-447)GCG>GTG	p.A149V	KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	149					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			ovary(1)	1		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)		CACTCACTCCGCATGGCACAG	0.537													A	47986421	G	A	47986421	3	1	257	1	0	0	0	0	1	0	0	0	8437	1087	38	1	900	1	KPTN	19	47986421	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	17100	47986421	11142562	1666	128598											
NAPA	8775	broad.mit.edu	37	chr19	47996224	47996224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgtccccacctgttcGtagatgtcaatggccttctg	8	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47996224G>A	uc002pha.1	-	7	855	c.555C>T	c.(553-555)TAC>TAT	p.Y185Y	uc002pgz.1_Intron|NAPA_uc002phb.1_Silent_p.Y146Y|NAPA_uc002phc.1_Silent_p.Y72Y|NAPA_uc002phd.1_Silent_p.Y185Y|NAPA_uc010elf.1_Silent_p.Y79Y	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	185					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		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)		CCACCTGTTCGTAGATGTCAA	0.612													A	47996224	G	A	47996224	2	1	257	1	0	0	0	0	0	0	0	1	10161	1140	40	1		1	NAPA	19	47996224	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	9803	47996224	11132759	1667	128599											
LMTK3	114783	broad.mit.edu	37	chr19	49000732	49000733	+	Frame_Shift_Ins	INS	-	-	G													ggcccttcctctcgggcttgINSggggggtccccgtctccgct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49000731_49000732T>TG	uc002pjk.3	-	11	3681_3682	c.3681_3682A>CA	c.(3679-3684)cccaagfs	p.P1227fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCTCGGGCTTGGGGGGGTCCC	0.708													G	49000733	-	G	49000732	7	5	257	1	0	1	1	0	0	0	0	0	8860	1335	47	0	808	0	LMTK3	19	49000732	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1004508	49000732	10128251	1668	128600											
FUT2	2524	broad.mit.edu	37	chr19	49206646	49206646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacatcccgggggagtacGtccgcttcaccggctacccc	11	18	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49206646G>A	uc002pke.3	+	2	544	c.433G>A	c.(433-435)GTC>ATC	p.V145I	FUT2_uc010emc.2_Missense_Mutation_p.V145I	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	fucosyltransferase 2	145	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			central_nervous_system(1)	1		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;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GGGGGAGTACGTCCGCTTCAC	0.657													A	49206646	G	A	49206646	3	1	257	1	0	0	0	0	1	0	0	0	6104	1145	40	1	435	1	FUT2	19	49206646	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	205914	49206646	9922337	1669	128601											
RASIP1	54922	broad.mit.edu	37	chr19	49230076	49230076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagactgctggaaggtaCacatgatgacctcatccagg	11	10	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49230076C>T	uc002pki.2	-	8	2290	c.2093G>A	c.(2092-2094)TGT>TAT	p.C698Y	RASIP1_uc002pkh.2_5'Flank	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	698	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		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)		CTGGAAGGTACACATGATGAC	0.493													T	49230076	C	T	49230076	3	4	257	1	0	0	0	0	1	0	0	0	13078	478	17	4	818	4	RASIP1	19	49230076	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	23430	49230076	9898907	1670	128602											
FUT1	2523	broad.mit.edu	37	chr19	49253922	49253922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcgggcggtcccctgtgCggcccaggcggagctgaccc	17	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49253922C>T	uc002pkk.2	-	4	1592	c.617G>A	c.(616-618)CGC>CAC	p.R206H		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	206	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GTCCCCTGTGCGGCCCAGGCG	0.657													T	49253922	C	T	49253922	3	4	257	1	0	0	0	0	1	0	0	0	6101	768	27	1	484	1	FUT1	19	49253922	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	23846	49253922	9875061	1671	128603											
PLEKHA4	57664	broad.mit.edu	37	chr19	49340773	49340773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggaggcagcggcacacCgggaagagggtctccctggg	18	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49340773C>T	uc002pkx.2	-	20	2664	c.2113G>A	c.(2113-2115)GGT>AGT	p.G705S	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	705						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		AGCGGCACACCGGGAAGAGGG	0.537													T	49340773	C	T	49340773	3	4	257	1	0	0	0	0	1	0	0	0	12058	652	23	1	230	1	PLEKHA4	19	49340773	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	86851	49340773	9788210	1672	128604											
NTF4	4909	broad.mit.edu	37	chr19	49564798	49564798	+	Frame_Shift_Del	DEL	C	C	-													ccggcagccccctccacctgCccccgggccaccttcctcag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49564797_49564797GC>G	uc002pmf.4	-	1	594	c.458_458GC>C	c.(457-459)gcafs	p.A153fs	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Frame_Shift_Del_p.A153fs	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	153					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)		CCCTCCACCTGCCCCCGGGCC	0.652													-	49564798	C	-	49564798	7	5	257	1	0	1	0	1	0	0	0	0	10697	739	26	0	179	0	NTF4	19	49564798	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	224025	49564798	9564185	1673	128605											
PPFIA3	8541	broad.mit.edu	37	chr19	49641625	49641625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcccctcccagctctGgccactcaacaccccgcctg	6	24	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49641625G>A	uc002pmr.2	+	16	2349	c.2017G>A	c.(2017-2019)GGC>AGC	p.G673S	PPFIA3_uc010yai.1_Intron|PPFIA3_uc010yaj.1_Intron|PPFIA3_uc002pms.2_Missense_Mutation_p.G541S	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	673						cell surface|cytoplasm	protein binding			lung(1)	1		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)		TCCCAGCTCTGGCCACTCAAC	0.682													A	49641625	G	A	49641625	3	1	257	1	0	0	0	0	1	0	0	0	12311	1348	47	4	2075	4	PPFIA3	19	49641625	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	76827	49641625	9487358	1674	128606											
TRPM4	54795	broad.mit.edu	37	chr19	49692316	49692316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggccatgcaagctgacGcccgtgccttctttgcccag	11	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49692316G>A	uc002pmw.2	+	14	2059	c.1987G>A	c.(1987-1989)GCC>ACC	p.A663T	TRPM4_uc010emu.2_Missense_Mutation_p.A663T|TRPM4_uc010yak.1_Missense_Mutation_p.A127T|TRPM4_uc002pmx.2_Missense_Mutation_p.A489T|TRPM4_uc010emv.2_Missense_Mutation_p.A548T|TRPM4_uc010yal.1_Missense_Mutation_p.A309T|TRPM4_uc002pmy.2_Missense_Mutation_p.A5T	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	663	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		GCAAGCTGACGCCCGTGCCTT	0.622													A	49692316	G	A	49692316	3	1	257	1	0	0	0	0	1	0	0	0	16585	1087	38	1	2041	1	TRPM4	19	49692316	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	50691	49692316	9436667	1675	128607											
PRMT1	3276	broad.mit.edu	37	chr19	50188254	50188254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccctagtggatgtcgTggaccccaaacagctggtca	13	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:50188254T>C	uc010enf.1	+	8	761	c.719T>C	c.(718-720)GTG>GCG	p.V240A	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.V216A|PRMT1_uc002ppe.2_Missense_Mutation_p.V222A|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.V187A|PRMT1_uc010yba.1_RNA|PRMT1_uc010ybb.1_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	221						cytoplasm	protein methyltransferase activity			ovary(1)	1		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GTGGATGTCGTGGACCCCAAA	0.592											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	50188254	T	C	50188254	3	2	257	1	0	0	0	0	1	0	0	0	12535	1696	59	3	749	3	PRMT1	19	50188254	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	495938	50188254	8940729	1676	128608											
PRMT1	3276	broad.mit.edu	37	chr19	50189419	50189419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctgcctgcaagtgaagCggaatgactacgtgcacgcc	12	12	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:50189419C>T	uc010enf.1	+	9	871	c.829C>T	c.(829-831)CGG>TGG	p.R277W	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.R253W|PRMT1_uc002ppe.2_Missense_Mutation_p.R259W|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.R224W|PRMT1_uc010yba.1_RNA|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	258						cytoplasm	protein methyltransferase activity			ovary(1)	1		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GCAAGTGAAGCGGAATGACTA	0.602													T	50189419	C	T	50189419	3	4	257	1	0	0	0	0	1	0	0	0	12535	759	27	1	863	1	PRMT1	19	50189419	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1165	50189419	8939564	1677	128609											
ACPT	93650	broad.mit.edu	37	chr19	51298304	51298304	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttctccctgcagctccAgtggtgcccctgctggccgg	13	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:51298304A>G	uc002pta.1	+	11	1170	c.1170A>G	c.(1168-1170)CCA>CCG	p.P390P		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	390	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGCAGCTCCAGTGGTGCCCC	0.687													G	51298304	A	G	51298304	2	3	257	1	0	0	0	0	0	0	0	1	168	175	7	3		3	ACPT	19	51298304	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1108885	51298304	7830679	1678	128610											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628959	51628959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagcaggggacaccccCtatgatctcctggataggga	13	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:51628959C>A	uc002pvu.2	+	2	594	c.527C>A	c.(526-528)CCT>CAT	p.P176H	SIGLEC9_uc010yct.1_Missense_Mutation_p.P176H	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	176	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGACACCCCCTATGATCTCC	0.667													A	51628959	C	A	51628959	3	1	257	1	0	0	0	0	1	0	0	0	14315	681	24	5	533	5	SIGLEC9	19	51628959	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	330655	51628959	7500024	1679	128611											
IGLON5	402665	broad.mit.edu	37	chr19	51826934	51826934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcttcatcgacgagcaCgtgacccgcgtggcctggct	13	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:51826934C>T	uc002pwc.2	+	3	177	c.177C>T	c.(175-177)CAC>CAT	p.H59H		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	59	Ig-like C2-type 1.					extracellular region					0						TCGACGAGCACGTGACCCGCG	0.652													T	51826934	C	T	51826934	2	4	257	1	0	0	0	0	0	0	0	1	7595	535	19	1		1	IGLON5	19	51826934	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	197975	51826934	7302049	1680	128612											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004970	52004970	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagcaggggtggcagcagTagcagcagcagtagcatgtg	17	8	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:52004970T>C	uc002pwx.1	-	1	74	c.18A>G	c.(16-18)CTA>CTG	p.L6L	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	6					cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		gtggcagcagtagcagcagca	0.453													C	52004970	T	C	52004970	2	2	257	1	0	0	0	0	0	0	0	1	14308	1625	57	3		3	SIGLEC12	19	52004970	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	178036	52004970	7124013	1681	128613											
ZNF321	399669	broad.mit.edu	37	chr19	53432346	53432346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaattttccattcaggcTgaaatatgtggagttcaggc	9	8	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:53432346T>G	uc010eqj.2	-	4	634	c.464A>C	c.(463-465)CAG>CCG	p.Q155P	ZNF321_uc002qaj.1_Missense_Mutation_p.Q102P|ZNF321_uc002qak.1_Missense_Mutation_p.Q155P	NM_203307	NP_976052			zinc finger protein 321												0				GBM - Glioblastoma multiforme(134;0.0305)		CCATTCAGGCTGAAATATGTG	0.403													G	53432346	T	G	53432346	3	3	257	1	0	0	0	0	1	0	0	0	17837	1580	55	5	193	5	ZNF321	19	53432346	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1427376	53432346	5696637	1682	128614											
CNOT3	4849	broad.mit.edu	37	chr19	54652128	54652128	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggccccaccagctccCagtgggcccagcacgaccca	11	19	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:54652128C>A	uc002qdj.1	+	11	1451	c.1140C>A	c.(1138-1140)CCC>CCA	p.P380P	CNOT3_uc010yel.1_Silent_p.P380P|CNOT3_uc002qdi.2_Silent_p.P293P|CNOT3_uc002qdk.1_Silent_p.P380P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	380	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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCAGCTCCCAGTGGGCCCA	0.532													A	54652128	C	A	54652128	2	1	257	1	0	0	0	0	0	0	0	1	3620	581	21	5		5	CNOT3	19	54652128	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1219782	54652128	4476855	1683	128615											
LILRA4	23547	broad.mit.edu	37	chr19	54848404	54848404	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgagagggagggtctgtcAgagatctgtcctggagaaaa	15	6	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:54848404A>G	uc002qfj.2	-	6	1020	c.963T>C	c.(961-963)TCT>TCC	p.S321S	LILRA4_uc002qfi.2_Silent_p.S255S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	321	Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGGTCTGTCAGAGATCTGTC	0.607													G	54848404	A	G	54848404	2	3	257	1	0	0	0	0	0	0	0	1	8787	175	7	3		3	LILRA4	19	54848404	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	196276	54848404	4280579	1684	128616											
LENG9	94059	broad.mit.edu	37	chr19	54973589	54973589	+	Frame_Shift_Del	DEL	G	G	-													gctttctaaagctcagccgaGggggtgcatttagccccggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:54973589delG	uc010yez.1	-	1	1306	c.1187delC	c.(1186-1188)CCTfs	p.P396fs		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	396					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCTCAGCCGAGGGGGTGCATT	0.662													-	54973589	G	-	54973589	7	5	257	1	0	1	0	1	0	0	0	0	8725	1000	35	0	322	0	LENG9	19	54973589	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	125185	54973589	4155394	1685	128617											
LILRB1	10859	broad.mit.edu	37	chr19	55143504	55143506	+	In_Frame_Del	DEL	AGG	AGG	-													ggcttcagtctgtgtaaggaAggagaagatgaacacccaca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55143503_55143505AAGG>A	uc002qgj.3	+	5	816_818	c.476_478AAGG>A	c.(475-480)gaagga>gAga	p.G160del	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_In_Frame_Del_p.G160del|LILRB1_uc002qgk.3_In_Frame_Del_p.G160del|LILRB1_uc002qgm.3_In_Frame_Del_p.G160del|LILRB1_uc010erq.3_In_Frame_Del_p.G160del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	160	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)		CTGTGTAAGGAAGGAGAAGATGA	0.606										HNSCC(37;0.09)			-	55143506	AGG	-	55143504	7	5	257	1	0	1	0	1	0	0	0	0	8790	69	3	0	491	0	LILRB1	19	55143504	In_Frame_Del	DEL	AGG	TCGA-HU-8602-01A-11D-2394-08	169915	55143504	3985479	1686	128618											
LILRB4	11006	broad.mit.edu	37	chr19	55179347	55179347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatctgaagccccccaGgatgtgacctacgcccagct	10	16	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55179347G>A	uc002qgp.2	+	12	1586	c.1224G>A	c.(1222-1224)CAG>CAA	p.Q408Q	LILRB4_uc002qgq.2_Silent_p.Q407Q|LILRB4_uc002qgr.2_Silent_p.Q450Q|LILRB4_uc010ert.2_Silent_p.Q449Q|LILRB4_uc010eru.2_Silent_p.Q438Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	408	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		AAGCCCCCCAGGATGTGACCT	0.642													A	55179347	G	A	55179347	2	1	257	1	0	0	0	0	0	0	0	1	8793	991	35	4		4	LILRB4	19	55179347	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	35843	55179347	3949636	1687	128619											
EPS8L1	54869	broad.mit.edu	37	chr19	55593836	55593837	+	Frame_Shift_Ins	INS	-	-	G													gacagattgtgaacacgtcgINSggggggccggagttcgcgag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55593835_55593836C>CG	uc002qis.4	+	11	1183_1184	c.1079_1080C>CG	c.(1078-1080)tcgfs	p.S360fs	EPS8L1_uc010ess.1_Frame_Shift_Ins_p.S342fs|EPS8L1_uc010est.1_Frame_Shift_Ins_p.S360fs|EPS8L1_uc010yfr.2_Frame_Shift_Ins_p.S296fs|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Frame_Shift_Ins_p.S233fs|EPS8L1_uc002qiv.3_Frame_Shift_Ins_p.S6fs|EPS8L1_uc002qiw.3_Frame_Shift_Ins_p.S107fs	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	360						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)		GTGAACACGTCGGGGGGGCCGG	0.663													G	55593837	-	G	55593836	7	5	257	1	0	1	1	0	0	0	0	0	5195	1103	39	0	1174	0	EPS8L1	19	55593836	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	414489	55593836	3535147	1688	128620											
TMEM190	147744	broad.mit.edu	37	chr19	55889086	55889086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaccaccagcgtccagacGgtgagggctcctggccccag	13	16	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55889086G>A	uc002qkt.1	+	3	238	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	74	Extracellular (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCGTCCAGACGGTGAGGGCTC	0.682													A	55889086	G	A	55889086	3	1	257	1	0	0	0	0	1	0	0	0	16111	1130	39	1	230	1	TMEM190	19	55889086	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	295250	55889086	3239897	1689	128621											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56736258	56736258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggggtccgactccttcGggcagctgaacatcctgaag	14	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:56736258G>A	uc002qmq.2	-	2	324	c.158C>T	c.(157-159)CCG>CTG	p.P53L	ZSCAN5A_uc010ygi.1_Intron|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.P53L|ZSCAN5A_uc002qms.1_Missense_Mutation_p.P53L	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CGACTCCTTCGGGCAGCTGAA	0.552													A	56736258	G	A	56736258	3	1	257	1	0	0	0	0	1	0	0	0	18235	1116	39	1	1348	1	ZSCAN5A	19	56736258	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	847172	56736258	2392725	1690	128622											
ZNF667	63934	broad.mit.edu	37	chr19	56953952	56953952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggtttcttccctgaatGccctttcttaggttttacta	6	9	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:56953952G>A	uc002qnd.2	-	5	574	c.412C>T	c.(412-414)CAT>TAT	p.H138Y	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.H138Y|ZNF667_uc010etm.2_Missense_Mutation_p.H81Y	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCCCTGAATGCCCTTTCTTA	0.398													A	56953952	G	A	56953952	3	1	257	1	0	0	0	0	1	0	0	0	18071	1319	46	2	1424	2	ZNF667	19	56953952	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	217694	56953952	2175031	1691	128623											
ZNF71	58491	broad.mit.edu	37	chr19	57133564	57133564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtacgcctgcaaggagtgCggcaaggccttcaacaagag	13	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57133564C>T	uc002qnm.3	+	3	1147	c.909C>T	c.(907-909)TGC>TGT	p.C303C		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	303	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCAAGGAGTGCGGCAAGGCCT	0.662													T	57133564	C	T	57133564	2	4	257	1	0	0	0	0	0	0	0	1	18111	776	27	1		1	ZNF71	19	57133564	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	179612	57133564	1995419	1692	128624											
ZNF71	58491	broad.mit.edu	37	chr19	57133847	57133847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacggggcgctcgtccctcAtcgtgcaccagatcgtgcac	11	16	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57133847A>G	uc002qnm.3	+	3	1430	c.1192A>G	c.(1192-1194)ATC>GTC	p.I398V		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	398	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCGTCCCTCATCGTGCACCA	0.632													G	57133847	A	G	57133847	3	3	257	1	0	0	0	0	1	0	0	0	18111	217	8	3	1194	3	ZNF71	19	57133847	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	283	57133847	1995136	1693	128625											
ZNF835	90485	broad.mit.edu	37	chr19	57176308	57176308	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctccttcgggctctcccCaggcgcgctgcacctccggg	11	20	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57176308C>A	uc010ygo.1	-	2	325	c.325G>T	c.(325-327)GGG>TGG	p.G109W	ZNF835_uc010ygn.1_Missense_Mutation_p.G87W	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GGGCTCTCCCCAGGCGCGCTG	0.642													A	57176308	C	A	57176308	3	1	257	1	0	0	0	0	1	0	0	0	18183	594	21	5	1356	5	ZNF835	19	57176308	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	42461	57176308	1952675	1694	128626											
PEG3	5178	broad.mit.edu	37	chr19	57328006	57328006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtttccccgcgctcacGttcacgttcacgttcatgtt	8	13	4	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57328006G>A	uc002qnu.2	-	7	2155	c.1804C>T	c.(1804-1806)CGT>TGT	p.R602C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R573C|PEG3_uc002qnv.2_Missense_Mutation_p.R602C|PEG3_uc002qnw.2_Missense_Mutation_p.R478C|PEG3_uc002qnx.2_Missense_Mutation_p.R476C|PEG3_uc010etr.2_Missense_Mutation_p.R602C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	602					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCGCGCtcacgttcacgttca	0.378													A	57328006	G	A	57328006	3	1	257	1	0	0	0	0	1	0	0	0	11720	1145	40	1	2966	1	PEG3	19	57328006	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	151698	57328006	1800977	1695	128627											
ZNF749	388567	broad.mit.edu	37	chr19	57956100	57956100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagtcccacctagttcaGcatgagaaaatccacactga	7	11	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57956100G>A	uc002qoq.2	+	3	1838	c.1584G>A	c.(1582-1584)CAG>CAA	p.Q528Q	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	528	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		ACCTAGTTCAGCATGAGAAAA	0.453													A	57956100	G	A	57956100	2	1	257	1	0	0	0	0	0	0	0	1	18128	962	34	2		2	ZNF749	19	57956100	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	628094	57956100	1172883	1696	128628											
ZNF419	79744	broad.mit.edu	37	chr19	58005254	58005254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaaagctcaaccctcatGcaacatcgaaaagttcacat	5	13	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58005254G>A	uc002qov.2	+	5	1569	c.1329G>A	c.(1327-1329)ATG>ATA	p.M443I	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.M444I|ZNF419_uc010etz.1_Missense_Mutation_p.M431I|ZNF419_uc010eua.1_Missense_Mutation_p.M430I|ZNF419_uc002qow.2_Missense_Mutation_p.M411I|ZNF419_uc010eub.1_Missense_Mutation_p.M398I|ZNF419_uc010euc.1_Missense_Mutation_p.M397I	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	443	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CAACCCTCATGCAACATCGAA	0.423													A	58005254	G	A	58005254	3	1	257	1	0	0	0	0	1	0	0	0	17893	1319	46	2	1350	2	ZNF419	19	58005254	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	49154	58005254	1123729	1697	128629											
ZNF549	256051	broad.mit.edu	37	chr19	58048899	58048899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgaatagctgcaaaattcCtctgtcagacaatcttttcc	5	11	4	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58048899C>A	uc002qpb.1	+	4	776	c.527C>A	c.(526-528)CCT>CAT	p.P176H	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.P163H	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(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)		TGCAAAATTCCTCTGTCAGAC	0.473													A	58048899	C	A	58048899	3	1	257	1	0	0	0	0	1	0	0	0	17978	681	24	5	498	5	ZNF549	19	58048899	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	43645	58048899	1080084	1698	128630											
ZNF417	147687	broad.mit.edu	37	chr19	58420052	58420052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttaatgagactggaacAttcagcaaaggattttccac	9	7	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58420052A>G	uc002qqq.2	-	3	1793	c.1594T>C	c.(1594-1596)TGT>CGT	p.C532R	ZNF417_uc010yhm.1_Missense_Mutation_p.C489R|ZNF417_uc002qqr.2_Missense_Mutation_p.C531R	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AGACTGGAACATTCAGCAAAG	0.398													G	58420052	A	G	58420052	3	3	257	1	0	0	0	0	1	0	0	0	17891	217	8	3	137	3	ZNF417	19	58420052	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	371153	58420052	708931	1699	128631											
ZNF132	7691	broad.mit.edu	37	chr19	58946192	58946192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagcttgaagctggaggaGgtcacagctgcccaggatga	14	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58946192G>T	uc002qst.3	-	3	1020	c.619C>A	c.(619-621)CTC>ATC	p.L207I		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	207						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		AGCTGGAGGAGGTCACAGCTG	0.527													T	58946192	G	T	58946192	3	4	257	1	0	0	0	0	1	0	0	0	17719	1000	35	5	1505	5	ZNF132	19	58946192	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	526140	58946192	182791	1700	128632											
TRIM28	10155	broad.mit.edu	37	chr19	59058826	59058826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgttttgtgagagcTgtgatactctcacctgccga	11	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:59058826T>C	uc002qtg.1	+	4	959	c.670T>C	c.(670-672)TGT>CGT	p.C224R	TRIM28_uc010eut.1_Missense_Mutation_p.C142R|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	224	RBCC domain.|B box-type 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		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)		TTGTGAGAGCTGTGATACTCT	0.567													C	59058826	T	C	59058826	3	2	257	1	0	0	0	0	1	0	0	0	16499	1580	55	3	684	3	TRIM28	19	59058826	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	112634	59058826	70157	1701	128633											
TMC2	117532	broad.mit.edu	37	chr20	2616615	2616615	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttccaaaagcctttccCgagctaatgcccagctgagg	9	13	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:2616615C>T	uc002wgf.1	+	18	2365	c.2350C>T	c.(2350-2352)CGA>TGA	p.R784*	TMC2_uc002wgg.1_Nonsense_Mutation_p.R768*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	784	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						AAGCCTTTCCCGAGCTAATGC	0.453													T	2616615	C	T	2616615	4	4	257	1	0	0	0	0	0	1	0	0	15982	644	23	1	2420	1	TMC2	20	2616615	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08		2616615	60408905	1702	128634											
PTPRA	5786	broad.mit.edu	37	chr20	3018724	3018724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagtatgagttctgctAcaaggtggtgcaggagtata	14	5	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:3018724A>G	uc010zqd.1	+	23	2704	c.2387A>G	c.(2386-2388)TAC>TGC	p.Y796C	PTPRA_uc002whj.2_Missense_Mutation_p.Y785C|PTPRA_uc002whk.2_Missense_Mutation_p.Y776C|PTPRA_uc002whl.2_Missense_Mutation_p.Y776C|PTPRA_uc002whm.2_Missense_Mutation_p.Y552C|PTPRA_uc002whn.2_Missense_Mutation_p.Y776C|PTPRA_uc002who.2_Missense_Mutation_p.Y448C	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	785	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GAGTTCTGCTACAAGGTGGTG	0.423													G	3018724	A	G	3018724	3	3	257	1	0	0	0	0	1	0	0	0	12795	391	14	3	2436	3	PTPRA	20	3018724	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	402109	3018724	60006796	1703	128635											
LRRN4	164312	broad.mit.edu	37	chr20	6025207	6025208	+	Frame_Shift_Del	DEL	TT	TT	-													acctgcttaggacagttctcTttgcatccgtgaggagccaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:6025207_6025208delTT	uc002wmo.2	-	4	1203_1204	c.979_980delAA	c.(979-981)AAGfs	p.K327fs		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	327	Extracellular (Potential).					integral to membrane				skin(3)	3						GACAGTTCTCTTTGCATCCGTG	0.52													-	6025208	TT	-	6025207	7	5	257	1	0	1	0	1	0	0	0	0	9037	1609	56	0	1250	0	LRRN4	20	6025207	Frame_Shift_Del	DEL	TT	TCGA-HU-8602-01A-11D-2394-08	3006483	6025207	57000313	1704	128636											
FERMT1	55612	broad.mit.edu	37	chr20	6096601	6096601	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctttgcatctgcctggaccCcatatttgtccagggtccag	10	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:6096601C>G	uc002wmr.2	-	3	1031	c.242G>C	c.(241-243)GGG>GCG	p.G81A	FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Missense_Mutation_p.G81A	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	81					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						TGCCTGGACCCCATATTTGTC	0.488													G	6096601	C	G	6096601	3	3	257	1	0	0	0	0	1	0	0	0	5817	623	22	5	1843	5	FERMT1	20	6096601	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	71394	6096601	56928919	1705	128637											
ISM1	140862	broad.mit.edu	37	chr20	13260475	13260475	+	Frame_Shift_Del	DEL	C	C	-													gacgacagcaacttcctcaaCccccccagggggtgggacca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:13260474_13260474AC>A	uc010gce.1	+	2	578	c.572_572AC>A	c.(571-573)aacfs	p.N191fs	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	191						extracellular region		p.L190I(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGG	0.552													-	13260475	C	-	13260475	7	5	257	1	0	1	0	1	0	0	0	0	7860	506	18	0	583	0	ISM1	20	13260475	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	7163874	13260475	49765045	1706	128638											
ESF1	51575	broad.mit.edu	37	chr20	13763492	13763492	+	Frame_Shift_Del	DEL	T	T	-													gatttcttttttagtctgggTttttttcttctttattttct							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:13763491_13763491GT>G	uc002woj.3	-	1	404	c.296_296AC>C	c.(295-297)accfs	p.T99fs	ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	99	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						TTTAGTCTGGGTTTTTTTCTT	0.323													-	13763492	T	-	13763492	7	5	257	1	0	1	0	1	0	0	0	0	5251	1725	60	0	2312	0	ESF1	20	13763492	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	503017	13763492	49262028	1707	128639											
SEL1L2	80343	broad.mit.edu	37	chr20	13847354	13847354	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catattatatttacctccacAgcagttctgcatgatcttac	4	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:13847354A>G	uc010gcf.2	-	15	1480	c.1398T>C	c.(1396-1398)GCT>GCC	p.A466A	SEL1L2_uc002woq.3_Silent_p.A327A|SEL1L2_uc010zrl.1_Silent_p.A466A|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	466	Extracellular (Potential).|Sel1-like 9.					integral to membrane	binding			ovary(2)	2						TTACCTCCACAGCAGTTCTGC	0.398													G	13847354	A	G	13847354	2	3	257	1	0	0	0	0	0	0	0	1	14011	175	7	3		3	SEL1L2	20	13847354	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	83862	13847354	49178166	1708	128640											
FLRT3	23767	broad.mit.edu	37	chr20	14306860	14306860	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaaagcagtcataggTagagcaagtttccaagagat	10	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:14306860T>C	uc002wov.1	-	3	1760	c.1293A>G	c.(1291-1293)CTA>CTG	p.L431L	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.L431L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	431	Extracellular (Potential).|Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTCATAGGTAGAGCAAGTT	0.438													C	14306860	T	C	14306860	2	2	257	1	0	0	0	0	0	0	0	1	5940	1625	57	3		3	FLRT3	20	14306860	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	459506	14306860	48718660	1709	128641											
KIF16B	55614	broad.mit.edu	37	chr20	16488665	16488665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcgttcatcccagtcgCtgcggtggtccggttgatat	13	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:16488665C>A	uc002wpg.1	-	7	795	c.637G>T	c.(637-639)GCG>TCG	p.A213S	KIF16B_uc010gch.1_Missense_Mutation_p.A213S|KIF16B_uc010gci.1_Missense_Mutation_p.A213S|KIF16B_uc010gcj.1_Missense_Mutation_p.A213S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	213	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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ATCCCAGTCGCTGCGGTGGTC	0.488													A	16488665	C	A	16488665	3	1	257	1	0	0	0	0	1	0	0	0	8278	797	28	5	3396	5	KIF16B	20	16488665	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2181805	16488665	46536855	1710	128642											
OTOR	56914	broad.mit.edu	37	chr20	16729553	16729553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagaagattataatgccCcggactgtagattcattaac	7	9	2	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:16729553C>A	uc002wpj.2	+	2	201	c.157C>A	c.(157-159)CCG>ACG	p.P53T	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	53	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						TTATAATGCCCCGGACTGTAG	0.358													A	16729553	C	A	16729553	3	1	257	1	0	0	0	0	1	0	0	0	11308	623	22	5	163	5	OTOR	20	16729553	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	240888	16729553	46295967	1711	128643											
RRBP1	6238	broad.mit.edu	37	chr20	17614161	17614161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcttccagagctttccGctgctgctcatcttgccgca	9	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:17614161G>A	uc002wpv.1	-	9	1609	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	RRBP1_uc002wpu.2_Missense_Mutation_p.R193W|RRBP1_uc002wpw.1_Missense_Mutation_p.R419W|RRBP1_uc010gcl.1_Missense_Mutation_p.R193W|RRBP1_uc010gcm.1_Silent_p.S4S	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	852	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						AGAGCTTTCCGCTGCTGCTCA	0.622													A	17614161	G	A	17614161	3	1	257	1	0	0	0	0	1	0	0	0	13678	1086	38	1	1750	1	RRBP1	20	17614161	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	884608	17614161	45411359	1712	128644											
ZNF133	7692	broad.mit.edu	37	chr20	18297204	18297204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctaattacacacaagcGggctcactcggaagagaagc	10	11	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:18297204G>A	uc010gcq.2	+	5	2014	c.1709G>A	c.(1708-1710)CGG>CAG	p.R570Q	ZNF133_uc010zrv.1_Missense_Mutation_p.R573Q|ZNF133_uc010zrw.1_Missense_Mutation_p.R507Q|ZNF133_uc010gcr.2_Missense_Mutation_p.R570Q|ZNF133_uc010zrx.1_Missense_Mutation_p.R475Q|ZNF133_uc002wql.3_Missense_Mutation_p.R569Q|ZNF133_uc010gcs.2_Missense_Mutation_p.R569Q|ZNF133_uc010zry.1_Missense_Mutation_p.R475Q|ZNF133_uc002wqm.2_Missense_Mutation_p.R570Q	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	570	C2H2-type 13.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ACACACAAGCGGGCTCACTCG	0.527													A	18297204	G	A	18297204	3	1	257	1	0	0	0	0	1	0	0	0	17720	1116	39	1	1716	1	ZNF133	20	18297204	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	683043	18297204	44728316	1713	128645											
RBBP9	10741	broad.mit.edu	37	chr20	18477806	18477806	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcactgccttgctaggagaAgccatgagtgcagcgaggcc	13	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:18477806A>C	uc002wqy.2	-	1	82	c.6T>G	c.(4-6)GCT>GCG	p.A2A		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	2				A -> V (in Ref. 1; AAC63498).		cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						TGCTAGGAGAAGCCATGAGTG	0.652													C	18477806	A	C	18477806	2	2	257	1	0	0	0	0	0	0	0	1	13106	59	3	5		5	RBBP9	20	18477806	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	180602	18477806	44547714	1714	128646											
SSTR4	6754	broad.mit.edu	37	chr20	23016551	23016551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgctcagcgtggaccGctacgtggccgtggtgcacc	14	15	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23016551G>A	uc002wsr.2	+	1	495	c.431G>A	c.(430-432)CGC>CAC	p.R144H		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	144	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCGTGGACCGCTACGTGGCC	0.682													A	23016551	G	A	23016551	3	1	257	1	0	0	0	0	1	0	0	0	15199	1087	38	1	433	1	SSTR4	20	23016551	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4538745	23016551	40008969	1715	128647											
THBD	7056	broad.mit.edu	37	chr20	23029062	23029062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgggctccacacactcGccgtccaccaggtcgtagtt	9	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23029062G>A	uc002wss.2	-	1	1240	c.1080C>T	c.(1078-1080)GGC>GGT	p.G360G	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.G301G	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	360	EGF-like 3; calcium-binding (Potential).|Extracellular (Potential).				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				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCACACACTCGCCGTCCACCA	0.617													A	23029062	G	A	23029062	2	1	257	1	0	0	0	0	0	0	0	1	15849	1074	38	1		1	THBD	20	23029062	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	12511	23029062	39996458	1716	128648											
GZF1	64412	broad.mit.edu	37	chr20	23346139	23346139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccacgtgcacagcagCgagcgccatttcccatgcga	11	16	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23346139C>T	uc010gdb.2	+	3	1293	c.1119C>T	c.(1117-1119)AGC>AGT	p.S373S	GZF1_uc002wsy.2_Silent_p.S373S|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.S373S	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	373					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCACAGCAGCGAGCGCCATT	0.667													T	23346139	C	T	23346139	2	4	257	1	0	0	0	0	0	0	0	1	6914	767	27	1		1	GZF1	20	23346139	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	317077	23346139	39679381	1717	128649											
GZF1	64412	broad.mit.edu	37	chr20	23350333	23350333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattcatgtgcaatgcgtgCggacggacattcaccgacaa	10	12	2	0	rs145353404		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23350333C>T	uc010gdb.2	+	6	1914	c.1740C>T	c.(1738-1740)TGC>TGT	p.C580C	GZF1_uc002wsy.2_Silent_p.C580C|GZF1_uc010zsq.1_Silent_p.C104C|GZF1_uc010zsr.1_Silent_p.C89C|GZF1_uc002wsz.2_Silent_p.C580C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	580	C2H2-type 10.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCAATGCGTGCGGACGGACAT	0.587													T	23350333	C	T	23350333	2	4	257	1	0	0	0	0	0	0	0	1	6914	776	27	1		1	GZF1	20	23350333	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4194	23350333	39675187	1718	128650											
NINL	22981	broad.mit.edu	37	chr20	25481580	25481580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatgctggagaagaggcGcaggctggagcacagggaca	17	8	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:25481580G>A	uc002wux.1	-	8	1002	c.928C>T	c.(928-930)CGC>TGC	p.R310C	NINL_uc010gdn.1_Missense_Mutation_p.R310C|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.R326C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	310					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GAGAAGAGGCGCAGGCTGGAG	0.592													A	25481580	G	A	25481580	3	1	257	1	0	0	0	0	1	0	0	0	10420	1087	38	1	3288	1	NINL	20	25481580	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2131247	25481580	37543940	1719	128651											
MYLK2	85366	broad.mit.edu	37	chr20	30408301	30408301	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcagcagccaggagggGctcacctgcctttctgcata	11	14	2	0	rs56385445		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:30408301G>C	uc002wwq.2	+	3	527	c.425G>C	c.(424-426)GGC>GCC	p.G142A		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	142					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCAGGAGGGGCTCACCTGCC	0.627													C	30408301	G	C	30408301	3	2	257	1	0	0	0	0	1	0	0	0	10057	1203	42	5	431	5	MYLK2	20	30408301	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4926721	30408301	32617219	1720	128652											
HCK	3055	broad.mit.edu	37	chr20	30689272	30689272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaatacatccagagtgtgCtggatgacttctacacggcc	10	11	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:30689272C>T	uc002wxh.2	+	13	1702	c.1531C>T	c.(1531-1533)CTG>TTG	p.L511L	HCK_uc010gdy.2_Silent_p.L490L|HCK_uc002wxi.2_Silent_p.L489L	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	511	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAGAGTGTGCTGGATGACTT	0.602													T	30689272	C	T	30689272	2	4	257	1	0	0	0	0	0	0	0	1	6994	796	28	2		2	HCK	20	30689272	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	280971	30689272	32336248	1721	128653											
PLAGL2	5326	broad.mit.edu	37	chr20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-													tgctttgcatcttgaatccaGggggggacgctggtgaaaaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						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)			TCTTGAATCCAGGGGGGGACG	0.557													-	30789952	G	-	30789952	7	5	257	1	0	1	0	1	0	0	0	0	12020	987	35	0	1468	0	PLAGL2	20	30789952	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	100680	30789952	32235568	1722	128654											
ASXL1	171023	broad.mit.edu	37	chr20	31021647	31021647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcgtcagtcctttcGtaacacaattgaaagtgttc	8	8	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:31021647G>A	uc002wxs.2	+	11	2072	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	ASXL1_uc010geb.2_Missense_Mutation_p.R440H	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	549					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CAGTCCTTTCGTAACACAATT	0.527			F|N|Mis		MDS|CMML								A	31021647	G	A	31021647	3	1	257	1	0	0	0	0	1	0	0	0	1066	1145	40	1	1698	1	ASXL1	20	31021647	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	231695	31021647	32003873	1723	128655											
ZNF341	84905	broad.mit.edu	37	chr20	32354674	32354674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttgggccagcccctgCcgggtgcgccacagccccag	15	17	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:32354674C>T	uc002wzy.2	+	9	1260	c.1240C>T	c.(1240-1242)CCG>TCG	p.P414S	ZNF341_uc002wzx.2_Missense_Mutation_p.P407S|ZNF341_uc010geq.2_Missense_Mutation_p.P324S|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCAGCCCCTGCCGGGTGCGCC	0.637													T	32354674	C	T	32354674	3	4	257	1	0	0	0	0	1	0	0	0	17854	739	26	2	1253	2	ZNF341	20	32354674	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1333027	32354674	30670846	1724	128656											
MYH7B	57644	broad.mit.edu	37	chr20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcgaggggcgctggctgCggccgaggccaagcgccagg	20	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:33582119C>T	uc002xbi.1	+	25	2833	c.2741C>T	c.(2740-2742)GCG>GTG	p.A914V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	872	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672													T	33582119	C	T	33582119	3	4	257	1	0	0	0	0	1	0	0	0	10040	768	27	1	2839	1	MYH7B	20	33582119	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1227445	33582119	29443401	1725	128657											
MYH7B	57644	broad.mit.edu	37	chr20	33589767	33589767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagcagcaggccaacaCcaacctggccaagtatcgca	10	15	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:33589767C>A	uc002xbi.1	+	42	5911	c.5819C>A	c.(5818-5820)ACC>AAC	p.T1940N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1898	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGGCCAACACCAACCTGGCC	0.627													A	33589767	C	A	33589767	3	1	257	1	0	0	0	0	1	0	0	0	10040	507	18	5	5985	5	MYH7B	20	33589767	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7648	33589767	29435753	1726	128658											
NFS1	9054	broad.mit.edu	37	chr20	34286424	34286424	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggagttgtagcttgcacAtccatatagagaggtcgcag	13	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:34286424A>G	uc002xdw.1	-	2	250	c.186T>C	c.(184-186)GAT>GAC	p.D62D	NFS1_uc002xdt.1_Silent_p.D2D|NFS1_uc002xdu.1_Silent_p.D2D|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Silent_p.D62D|NFS1_uc002xdx.2_Silent_p.D62D|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	62					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			ovary(1)|skin(1)	2	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)	TAGCTTGCACATCCATATAGA	0.522													G	34286424	A	G	34286424	2	3	257	1	0	0	0	0	0	0	0	1	10385	214	8	3		3	NFS1	20	34286424	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	696657	34286424	28739096	1727	128659											
DLGAP4	22839	broad.mit.edu	37	chr20	35060240	35060240	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtcgcccacggaggccttCgcccgcgaggcccgcttccc	12	20	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35060240C>T	uc002xff.2	+	3	555	c.120C>T	c.(118-120)TTC>TTT	p.F40F	DLGAP4_uc010zvp.1_Silent_p.F40F	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	40					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGAGGCCTTCGCCCGCGAGG	0.706													T	35060240	C	T	35060240	2	4	257	1	0	0	0	0	0	0	0	1	4562	883	31	1		1	DLGAP4	20	35060240	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	773816	35060240	27965280	1728	128660											
DLGAP4	22839	broad.mit.edu	37	chr20	35128744	35128744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccatcagcatcgatgccGgtccccggcaggcccccaag	10	18	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35128744G>A	uc002xff.2	+	10	2668	c.2233G>A	c.(2233-2235)GGT>AGT	p.G745S	DLGAP4_uc010zvp.1_Missense_Mutation_p.G745S|DLGAP4_uc002xfg.2_Missense_Mutation_p.G41S|DLGAP4_uc002xfh.2_Missense_Mutation_p.G209S|DLGAP4_uc002xfi.2_Missense_Mutation_p.G54S|DLGAP4_uc002xfj.2_Missense_Mutation_p.G41S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	748					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATCGATGCCGGTCCCCGGCA	0.612													A	35128744	G	A	35128744	3	1	257	1	0	0	0	0	1	0	0	0	4562	1116	39	1	2391	1	DLGAP4	20	35128744	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	68504	35128744	27896776	1729	128661											
NDRG3	57446	broad.mit.edu	37	chr20	35284817	35284817	+	Splice_Site	DEL	G	G	-													ctcggtgagcttcccaggctGgggggataaaacaagagggc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35284816_35284816TG>T	uc002xfw.3	-	15	1037	c.895_splice	c.e15-1	p.P299_splice	NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	299					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)				CTTCCCAGGCTGGGGGGATAA	0.423													-	35284817	G	-	35284817	8	5	257	1	0	1	0	1	0	0	1	0	10253	1363	47	0		0	NDRG3	20	35284817	Splice_Site	DEL	G	TCGA-HU-8602-01A-11D-2394-08	156073	35284817	27740703	1730	128662											
NDRG3	57446	broad.mit.edu	37	chr20	35288785	35288785	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaggcgggaattgcattcGacctaaaatttaaaaaaaga	8	6	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35288785G>A	uc002xfw.2	-	13	895	c.813C>T	c.(811-813)GTC>GTT	p.V271V	NDRG3_uc002xfx.2_Silent_p.V259V|NDRG3_uc010zvq.1_Silent_p.V176V|NDRG3_uc010zvr.1_Silent_p.V159V	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	271					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				AATTGCATTCGACCTAAAATT	0.353													A	35288785	G	A	35288785	2	1	257	1	0	0	0	0	0	0	0	1	10253	1045	37	1		1	NDRG3	20	35288785	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3968	35288785	27736735	1731	128663											
KIAA1755	85449	broad.mit.edu	37	chr20	36841555	36841556	+	Frame_Shift_Ins	INS	-	-	G													gagggacctggctctgcctgINSgggggctgctgccggaagaa							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:36841554_36841555T>TG	uc002xhy.1	-	13	3764_3765	c.3492_3493A>CA	c.(3490-3495)cccaggfs	p.P1164fs	KIAA1755_uc002xhv.1_Frame_Shift_Ins_p.P228fs|KIAA1755_uc002xhw.1_Frame_Shift_Ins_p.P219fs|KIAA1755_uc002xhx.1_Frame_Shift_Ins_p.P442fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1164										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)				TGGCTCTGCCTGGGGGGCTGCT	0.644													G	36841556	-	G	36841555	7	5	257	1	0	1	1	0	0	0	0	0	8257	1335	47	0	114	0	KIAA1755	20	36841555	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	1552770	36841555	26183965	1732	128664											
KIAA1755	85449	broad.mit.edu	37	chr20	36868110	36868110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgggccagatgtttTggtctgagttgttccagctg	15	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:36868110T>C	uc002xhy.1	-	4	1839	c.1567A>G	c.(1567-1569)AAA>GAA	p.K523E	KIAA1755_uc002xhz.1_Missense_Mutation_p.K523E	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	523										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				CCAGATGTTTTGGTCTGAGTT	0.527													C	36868110	T	C	36868110	3	2	257	1	0	0	0	0	1	0	0	0	8257	1821	63	3	2079	3	KIAA1755	20	36868110	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	26555	36868110	26157410	1733	128665											
DHX35	60625	broad.mit.edu	37	chr20	37634851	37634851	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcggcattgtgtatgtgatCgactgtggctttgtgaaact	13	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:37634851C>T	uc002xjh.2	+	12	1085	c.1074C>T	c.(1072-1074)ATC>ATT	p.I358I	DHX35_uc010zwa.1_Silent_p.I203I|DHX35_uc010zwb.1_Silent_p.I203I|DHX35_uc010zwc.1_Silent_p.I327I	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	358	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TGTATGTGATCGACTGTGGCT	0.483													T	37634851	C	T	37634851	2	4	257	1	0	0	0	0	0	0	0	1	4508	874	31	1		1	DHX35	20	37634851	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	766741	37634851	25390669	1734	128666											
TTPAL	79183	broad.mit.edu	37	chr20	43109069	43109069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaggggctgccatgtcGtctgcatccgcccaggtatc	11	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:43109069G>A	uc002xmc.1	+	3	554	c.430G>A	c.(430-432)GTC>ATC	p.V144I	TTPAL_uc002xmd.1_Missense_Mutation_p.V144I|TTPAL_uc010ggr.1_Silent_p.S21S	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	144	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						CTGCCATGTCGTCTGCATCCG	0.557													A	43109069	G	A	43109069	3	1	257	1	0	0	0	0	1	0	0	0	16734	1145	40	1	432	1	TTPAL	20	43109069	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	5474218	43109069	19916451	1735	128667											
SERINC3	10955	broad.mit.edu	37	chr20	43129883	43129883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtatcaccaaggatgaCgctgtcactccctgacaggg	11	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:43129883C>T	uc002xme.2	-	9	1248	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I	SERINC3_uc002xmf.1_Missense_Mutation_p.V372I|SERINC3_uc010ggs.1_Missense_Mutation_p.V365I|SERINC3_uc010zwp.1_Missense_Mutation_p.V317I	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	372	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CCAAGGATGACGCTGTCACTC	0.517													T	43129883	C	T	43129883	3	4	257	1	0	0	0	0	1	0	0	0	14081	536	19	1	315	1	SERINC3	20	43129883	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	20814	43129883	19895637	1736	128668											
SEMG1	6406	broad.mit.edu	37	chr20	43836312	43836312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaaggtcattttcacaGggtagttatacaccataaag	7	7	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:43836312G>T	uc002xni.2	+	2	431	c.374G>T	c.(373-375)AGG>ATG	p.R125M	SEMG1_uc002xnj.2_Missense_Mutation_p.R125M|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.R125M	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	125					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				CATTTTCACAGGGTAGTTATA	0.418													T	43836312	G	T	43836312	3	4	257	1	0	0	0	0	1	0	0	0	14044	1000	35	5	380	5	SEMG1	20	43836312	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	706429	43836312	19189208	1737	128669											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505588	44505588	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagactccagcctgtgCagcccacaaccaaaaaagac	8	14	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:44505588C>T	uc002xqd.2	+	2	594	c.391C>T	c.(391-393)CAG>TAG	p.Q131*	ZSWIM3_uc010zxg.1_Nonsense_Mutation_p.Q125*	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	131							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				CCAGCCTGTGCAGCCCACAAC	0.507													T	44505588	C	T	44505588	4	4	257	1	0	0	0	0	0	1	0	0	18239	711	25	2	397	2	ZSWIM3	20	44505588	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	669276	44505588	18519932	1738	128670											
ZNF334	55713	broad.mit.edu	37	chr20	45130769	45130769	+	Frame_Shift_Del	DEL	T	T	-													cattcactacattcatagggTttttcccctgtgtgaattct					rs141823361	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45130768_45130768GT>G	uc002xsa.3	-	3	1741	c.1279_1279AC>C	c.(1279-1281)cccfs	p.P427fs	ZNF334_uc002xsb.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsd.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsc.3_Frame_Shift_Del_p.P404fs|ZNF334_uc010ghl.3_Frame_Shift_Del_p.P403fs			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	404					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)				CATTCATAGGGTTTTTCCCCT	0.438													-	45130769	T	-	45130769	7	5	257	1	0	1	0	1	0	0	0	0	17848	1722	60	0	837	0	ZNF334	20	45130769	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	625181	45130769	17894751	1739	128671											
EYA2	2139	broad.mit.edu	37	chr20	45618724	45618724	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgaagtttaaccgtgcTgacgctgctgtgtggactct	11	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45618724T>C	uc002xsm.2	+	2	449	c.75T>C	c.(73-75)GCT>GCC	p.A25A	EYA2_uc010ghp.2_Silent_p.A25A|EYA2_uc002xsn.2_Silent_p.A30A|EYA2_uc002xso.2_Silent_p.A25A|EYA2_uc002xsp.2_Silent_p.A25A|EYA2_uc002xsq.2_Silent_p.A25A	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	25					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			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				TTAACCGTGCTGACGCTGCTG	0.478													C	45618724	T	C	45618724	2	2	257	1	0	0	0	0	0	0	0	1	5329	1567	55	3		3	EYA2	20	45618724	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	487955	45618724	17406796	1740	128672											
EYA2	2139	broad.mit.edu	37	chr20	45702897	45702897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagcagcatctgcccttCgcccctctccacgtccacct	7	21	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45702897C>T	uc002xsm.2	+	7	958	c.584C>T	c.(583-585)TCG>TTG	p.S195L	EYA2_uc010ghp.2_Missense_Mutation_p.S195L|EYA2_uc002xsn.2_Missense_Mutation_p.S200L|EYA2_uc002xso.2_Missense_Mutation_p.S195L|EYA2_uc002xsp.2_Missense_Mutation_p.S195L|EYA2_uc002xsq.2_Missense_Mutation_p.S195L	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	195					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			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				ATCTGCCCTTCGCCCCTCTCC	0.617													T	45702897	C	T	45702897	3	4	257	1	0	0	0	0	1	0	0	0	5329	893	31	1	606	1	EYA2	20	45702897	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	84173	45702897	17322623	1741	128673											
ZMYND8	23613	broad.mit.edu	37	chr20	45850103	45850103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgttcacctcagcatcCgcttcctgctgaggagcagt	10	13	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45850103C>T	uc002xta.1	-	20	3473	c.3219G>A	c.(3217-3219)GCG>GCA	p.A1073A	ZMYND8_uc010ghq.1_Silent_p.A704A|ZMYND8_uc010ghr.1_Silent_p.A975A|ZMYND8_uc002xst.1_Silent_p.A955A|ZMYND8_uc002xsu.1_Silent_p.A946A|ZMYND8_uc002xsv.1_Silent_p.A1001A|ZMYND8_uc002xsw.1_Silent_p.A779A|ZMYND8_uc002xsx.1_Silent_p.A779A|ZMYND8_uc002xsy.1_Silent_p.A1002A|ZMYND8_uc002xsz.1_Silent_p.A964A|ZMYND8_uc010zxy.1_Silent_p.A1100A|ZMYND8_uc002xtb.1_Silent_p.A1047A|ZMYND8_uc002xss.2_Silent_p.A1073A|ZMYND8_uc010zxz.1_Silent_p.A941A|ZMYND8_uc002xtc.1_Silent_p.A1047A|ZMYND8_uc002xtd.1_Silent_p.A1022A|ZMYND8_uc002xte.1_Silent_p.A1027A|ZMYND8_uc010zya.1_Silent_p.A1073A|ZMYND8_uc002xtf.1_Silent_p.A1093A|ZMYND8_uc002xsr.1_Silent_p.A172A	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1073							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCTCAGCATCCGCTTCCTGCT	0.532													T	45850103	C	T	45850103	2	4	257	1	0	0	0	0	0	0	0	1	17708	639	23	1		1	ZMYND8	20	45850103	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	147206	45850103	17175417	1742	128674											
KCNB1	3745	broad.mit.edu	37	chr20	47991404	47991404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgcacacggcctccacGtgggccagctgggggttgtc	16	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:47991404G>A	uc002xur.1	-	2	857	c.693C>T	c.(691-693)CAC>CAT	p.H231H	KCNB1_uc002xus.1_Silent_p.H231H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	231	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGCCTCCACGTGGGCCAGCT	0.592													A	47991404	G	A	47991404	2	1	257	1	0	0	0	0	0	0	0	1	8012	1136	40	1		1	KCNB1	20	47991404	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2141301	47991404	15034116	1743	128675											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-													ggaaaccgggagggtaggaaCccccccactctggatcacag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:50400982_50400982AC>A	uc002xwh.4	-	3	3085	c.2984_2984GT>T	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					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						GAGGGTAGGAACCCCCCCACT	0.562													-	50400983	C	-	50400983	7	5	257	1	0	1	0	1	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	2409579	50400983	12624537	1744	128676											
BCAS1	8537	broad.mit.edu	37	chr20	52645510	52645510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgacacttattcccaagtcGactgtaaacacaaacataaa	4	10	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:52645510G>A	uc002xws.2	-	4	482	c.144C>T	c.(142-144)GTC>GTT	p.V48V	BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Silent_p.V48V|BCAS1_uc010gil.1_Silent_p.V48V|BCAS1_uc010zzc.1_5'UTR	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	48						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	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)			TTCCCAAGTCGACTGTAAACA	0.443													A	52645510	G	A	52645510	2	1	257	1	0	0	0	0	0	0	0	1	1350	1072	37	1		1	BCAS1	20	52645510	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2244527	52645510	10380010	1745	128677											
DOK5	55816	broad.mit.edu	37	chr20	53260110	53260110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgggacagctctaccgCttgcaaggtaagcgtggggc	15	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:53260110C>T	uc002xwy.2	+	7	1069	c.849C>T	c.(847-849)CGC>CGT	p.R283R	DOK5_uc010gin.2_Silent_p.R175R|DOK5_uc002xwz.2_Silent_p.R145R	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	283							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGCTCTACCGCTTGCAAGGTA	0.667													T	53260110	C	T	53260110	2	4	257	1	0	0	0	0	0	0	0	1	4700	784	28	2		2	DOK5	20	53260110	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	614600	53260110	9765410	1746	128678											
C20orf106	200232	broad.mit.edu	37	chr20	55100071	55100071	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttctttttgttgttgtgccGtttgtgatactgcagtgtca	10	7	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:55100071G>C	uc002xxx.2	+	1	287	c.207G>C	c.(205-207)CCG>CCC	p.P69P	GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Silent_p.P69P	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	69	Helical; (Potential).					integral to membrane					0			Colorectal(105;0.202)			TTGTTGTGCCGTTTGTGATAC	0.458													C	55100071	G	C	55100071	2	2	257	1	0	0	0	0	0	0	0	1	2076	1132	40	5		5	C20orf106	20	55100071	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1839961	55100071	7925449	1747	128679											
RAB22A	57403	broad.mit.edu	37	chr20	56929305	56929305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgcgataaacataaatgaActctttatagaaattagtga	6	5	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:56929305A>G	uc002xyz.2	+	6	733	c.471A>G	c.(469-471)GAA>GAG	p.E157E		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	157					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			ACATAAATGAACTCTTTATAG	0.398													G	56929305	A	G	56929305	2	3	257	1	0	0	0	0	0	0	0	1	12909	40	2	3		3	RAB22A	20	56929305	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1829234	56929305	6096215	1748	128680											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514222	58514222	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacttggtagcgcaccgcGaagtgcacgcgggagccgag	16	13	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:58514222G>A	uc002ybb.2	-	1	1131	c.765C>T	c.(763-765)TTC>TTT	p.F255F	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	255	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AGCGCACCGCGAAGTGCACGC	0.672													A	58514222	G	A	58514222	2	1	257	1	0	0	0	0	0	0	0	1	12374	1049	37	1		1	PPP1R3D	20	58514222	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1584917	58514222	4511298	1749	128681											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514292	58514292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggtgaaaacgtcctccGtgccctcggggcctgcgggc	15	14	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:58514292G>A	uc002ybb.2	-	1	1061	c.695C>T	c.(694-696)ACG>ATG	p.T232M	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	232	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AACGTCCTCCGTGCCCTCGGG	0.697													A	58514292	G	A	58514292	3	1	257	1	0	0	0	0	1	0	0	0	12374	1145	40	1	208	1	PPP1R3D	20	58514292	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	70	58514292	4511228	1750	128682											
CDH4	1002	broad.mit.edu	37	chr20	60504830	60504830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggactgcaccaccattggCgcagtggcagcggctggtct	16	12	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:60504830C>T	uc002ybn.1	+	13	2183	c.2169C>T	c.(2167-2169)GGC>GGT	p.G723G	CDH4_uc002ybp.1_Silent_p.G649G	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	723	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCACCATTGGCGCAGTGGCAG	0.597													T	60504830	C	T	60504830	2	4	257	1	0	0	0	0	0	0	0	1	3112	755	27	1		1	CDH4	20	60504830	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1990538	60504830	2520690	1751	128683											
COL9A3	1299	broad.mit.edu	37	chr20	61471962	61471962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgagcctgggcctcccGgagatcctgggcttccaggt	15	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:61471962G>A	uc002ydm.2	+	32	1936	c.1933G>A	c.(1933-1935)GGA>AGA	p.G645R	COL9A3_uc002ydn.2_Missense_Mutation_p.G139R	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	645	Triple-helical region 1 (COL1).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					TGGGCCTCCCGGAGATCCTGG	0.677													A	61471962	G	A	61471962	3	1	257	1	0	0	0	0	1	0	0	0	3709	1117	39	1	2059	1	COL9A3	20	61471962	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	967132	61471962	1553558	1752	128684											
DIDO1	11083	broad.mit.edu	37	chr20	61541334	61541334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcccacacaatcgccaTgaaaccattcttcacagcgg	6	14	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:61541334T>C	uc002ydr.1	-	4	1142	c.878A>G	c.(877-879)CAT>CGT	p.H293R	DIDO1_uc002yds.1_Missense_Mutation_p.H293R|DIDO1_uc002ydt.1_Missense_Mutation_p.H293R|DIDO1_uc002ydu.1_Missense_Mutation_p.H293R|DIDO1_uc002ydv.1_Missense_Mutation_p.H293R|DIDO1_uc002ydw.1_Missense_Mutation_p.H293R|DIDO1_uc002ydx.1_Missense_Mutation_p.H293R|DIDO1_uc011aao.1_Missense_Mutation_p.H293R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	293	PHD-type.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ACAATCGCCATGAAACCATTC	0.443													C	61541334	T	C	61541334	3	2	257	1	0	0	0	0	1	0	0	0	4522	1464	51	3	6026	3	DIDO1	20	61541334	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	69372	61541334	1484186	1753	128685											
BIRC7	79444	broad.mit.edu	37	chr20	61870887	61870887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtctgtgctgagtgtgCccccggcctgcagctgtgcc	14	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:61870887C>T	uc002yej.2	+	6	1000	c.827C>T	c.(826-828)GCC>GTC	p.A276V	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.A258V	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	276	RING-type.				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3	all_cancers(38;2.72e-09)					GCTGAGTGTGCCCCCGGCCTG	0.706													T	61870887	C	T	61870887	3	4	257	1	0	0	0	0	1	0	0	0	1439	739	26	2	849	2	BIRC7	20	61870887	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	329553	61870887	1154633	1754	128686											
RTEL1	51750	broad.mit.edu	37	chr20	62311267	62311267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagggctgcatcctggactCgctggaccagatcatccagc	11	14	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:62311267C>T	uc002yfu.1	+	13	1446	c.1103C>T	c.(1102-1104)TCG>TTG	p.S368L	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.S368L|RTEL1_uc011abd.1_Missense_Mutation_p.S392L|RTEL1_uc011abe.1_Missense_Mutation_p.S145L|RTEL1_uc002yfw.2_RNA	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	368					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				0	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)			ATCCTGGACTCGCTGGACCAG	0.602													T	62311267	C	T	62311267	3	4	257	1	0	0	0	0	1	0	0	0	13720	893	31	1	1149	1	RTEL1	20	62311267	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	440380	62311267	714253	1755	128687											
ZGPAT	84619	broad.mit.edu	37	chr20	62366609	62366609	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggagaccctgcagaagCagaccagggttggcaaggct	16	9	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:62366609C>T	uc002ygk.2	+	6	1328	c.1150C>T	c.(1150-1152)CAG>TAG	p.Q384*	ZGPAT_uc002ygi.2_Nonsense_Mutation_p.Q364*|ZGPAT_uc002ygj.2_Nonsense_Mutation_p.Q364*|ZGPAT_uc010gkk.1_5'UTR|ZGPAT_uc010gkl.1_Nonsense_Mutation_p.Q364*|ZGPAT_uc002ygm.2_Nonsense_Mutation_p.Q355*|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	384					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				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTGCAGAAGCAGACCAGGGT	0.657													T	62366609	C	T	62366609	4	4	257	1	0	0	0	0	0	1	0	0	17671	711	25	2	1168	2	ZGPAT	20	62366609	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	55342	62366609	658911	1756	128688											
NCAM2	4685	broad.mit.edu	37	chr21	22696804	22696804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggctctccagaacccGccatctcctggttcaggtag	9	16	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:22696804G>A	uc002yld.1	+	6	970	c.721G>A	c.(721-723)GCC>ACC	p.A241T	NCAM2_uc011acb.1_Missense_Mutation_p.A99T|NCAM2_uc011acc.1_Missense_Mutation_p.A266T	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	241	Ig-like C2-type 3.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		TCCAGAACCCGCCATCTCCTG	0.493													A	22696804	G	A	22696804	3	1	257	1	0	0	0	0	1	0	0	0	10203	1087	38	1	743	1	NCAM2	21	22696804	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08		22696804	25433091	1757	128689											
CCT8	10694	broad.mit.edu	37	chr21	30433672	30433672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagttttctgccagtgCgcggggaatagcttcaaatg	12	9	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:30433672C>T	uc002ynb.2	-	13	1450	c.1351G>A	c.(1351-1353)GCA>ACA	p.A451T	CCT8_uc002ymz.2_Missense_Mutation_p.A67T|CCT8_uc011acp.1_Missense_Mutation_p.A432T|CCT8_uc002yna.2_Missense_Mutation_p.A400T|CCT8_uc002ync.2_Missense_Mutation_p.A450T|CCT8_uc010glm.2_Missense_Mutation_p.A392T|CCT8_uc011acq.1_Missense_Mutation_p.A378T	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	451					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TCTGCCAGTGCGCGGGGAATA	0.368													T	30433672	C	T	30433672	3	4	257	1	0	0	0	0	1	0	0	0	2960	768	27	1	307	1	CCT8	21	30433672	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7736868	30433672	17696223	1758	128690											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709741	31709741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagtagtttggacaactccGgggaagcagttactttgcac	11	8	0	0	rs139729864		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:31709741G>A	uc002ynx.1	-	1	272	c.246C>T	c.(244-246)CCC>CCT	p.P82P		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	82						intermediate filament				ovary(2)	2						GGACAACTCCGGGGAAGCAGT	0.478													A	31709741	G	A	31709741	2	1	257	1	0	0	0	0	0	0	0	1	8544	1103	39	1		1	KRTAP27-1	21	31709741	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1276069	31709741	16420154	1759	128691											
SFRS15	57466	broad.mit.edu	37	chr21	33057745	33057745	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggtggagtgtgaggaggAggaatggatactggtggagt	20	1	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:33057745A>G	uc002ypd.2	-	18	2688	c.2262T>C	c.(2260-2262)CCT>CCC	p.P754P	SFRS15_uc002ype.2_Silent_p.P754P|SFRS15_uc010glu.2_Silent_p.P739P|SFRS15_uc002ypf.1_Silent_p.P428P	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	754						nucleus	nucleotide binding|RNA binding				0						TGTGAGGAGGAGGAATGGATA	0.448													G	33057745	A	G	33057745	2	3	257	1	0	0	0	0	0	0	0	1	14171	291	11	3		3	SFRS15	21	33057745	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1348004	33057745	15072150	1760	128692											
IFNGR2	3460	broad.mit.edu	37	chr21	34793838	34793838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtccataggggtgaattgTacacagatcacagcaacaga	10	8	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:34793838T>C	uc002yrp.3	+	3	906	c.258T>C	c.(256-258)TGT>TGC	p.C86C	IFNGR2_uc002yrq.3_Silent_p.C105C|IFNGR2_uc010gma.2_Silent_p.C7C|IFNGR2_uc002yrr.3_Silent_p.C7C	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	86	Extracellular (Potential).|Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	GGGTGAATTGTACACAGATCA	0.488													C	34793838	T	C	34793838	2	2	257	1	0	0	0	0	0	0	0	1	7550	1644	57	3		3	IFNGR2	21	34793838	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1736093	34793838	13336057	1761	128693											
SON	6651	broad.mit.edu	37	chr21	34927110	34927110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctaagtccaagtctcatcGctctcagacacgttcacggt	7	13	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:34927110G>A	uc002yse.1	+	3	5622	c.5573G>A	c.(5572-5574)CGC>CAC	p.R1858H	SON_uc002ysb.1_Missense_Mutation_p.R1858H|SON_uc002ysc.2_Missense_Mutation_p.R1858H|SON_uc002ysd.2_Missense_Mutation_p.R849H|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R849H	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1858					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			ovary(4)|skin(2)	6						AAGTCTCATCGCTCTCAGACA	0.463													A	34927110	G	A	34927110	3	1	257	1	0	0	0	0	1	0	0	0	14926	1087	38	1	5583	1	SON	21	34927110	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	133272	34927110	13202785	1762	128694											
KCNE1	3753	broad.mit.edu	37	chr21	35821548	35821548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccagtggtggggttcatgGggaaggcttcgtctcaggaa	17	7	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:35821548G>T	uc010gmp.2	-	2	815	c.385C>A	c.(385-387)CCA>ACA	p.P129T	KCNE1_uc002ytz.2_Missense_Mutation_p.P129T|KCNE1_uc010gmq.2_Missense_Mutation_p.P129T|KCNE1_uc010gmr.2_Missense_Mutation_p.P129T|KCNE1_uc010gms.2_Missense_Mutation_p.P129T|KCNE1_uc002yua.2_RNA	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related	129	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(2)	2					Indapamide(DB00808)	GGGGTTCATGGGGAAGGCTTC	0.507													T	35821548	G	T	35821548	3	4	257	1	0	0	0	0	1	0	0	0	8021	1232	43	5	8	5	KCNE1	21	35821548	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	894438	35821548	12308347	1763	128695											
DOPEY2	9980	broad.mit.edu	37	chr21	37617519	37617519	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagaagtacccgctgCgaggcgagctgagcgaggaa	16	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:37617519C>T	uc002yvg.2	+	19	3320	c.3241C>T	c.(3241-3243)CGA>TGA	p.R1081*	DOPEY2_uc011aeb.1_Nonsense_Mutation_p.R1030*|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1081					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GTACCCGCTGCGAGGCGAGCT	0.642													T	37617519	C	T	37617519	4	4	257	1	0	0	0	0	0	1	0	0	4708	760	27	1	3311	1	DOPEY2	21	37617519	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1795971	37617519	10512376	1764	128696											
DOPEY2	9980	broad.mit.edu	37	chr21	37649359	37649359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgtcttcatccgccccGtcggtgtacagcgtgcaagc	12	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:37649359G>A	uc002yvg.2	+	28	5752	c.5673G>A	c.(5671-5673)CCG>CCA	p.P1891P	DOPEY2_uc011aeb.1_Silent_p.P1840P	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1891					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CATCCGCCCCGTCGGTGTACA	0.493													A	37649359	G	A	37649359	2	1	257	1	0	0	0	0	0	0	0	1	4708	1132	40	1		1	DOPEY2	21	37649359	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	31840	37649359	10480536	1765	128697											
PSMG1	8624	broad.mit.edu	37	chr21	40550521	40550521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttataatcggtaacatgtCgacatgtgagaatagttatc	8	5	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:40550521C>T	uc002yxi.2	-	5	638	c.509G>A	c.(508-510)CGA>CAA	p.R170Q	PSMG1_uc002yxj.2_Missense_Mutation_p.R149Q|PSMG1_uc010gob.2_Missense_Mutation_p.R83Q	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	170					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				GGTAACATGTCGACATGTGAG	0.353													T	40550521	C	T	40550521	3	4	257	1	0	0	0	0	1	0	0	0	12711	884	31	1	369	1	PSMG1	21	40550521	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2901162	40550521	7579374	1766	128698											
PRDM15	63977	broad.mit.edu	37	chr21	43246337	43246337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccacacaccgggcacccGgaaggctccttcttgtaacg	10	15	1	0	rs139811499		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:43246337G>A	uc002yzq.1	-	20	2817	c.2706C>T	c.(2704-2706)TCC>TCT	p.S902S	PRDM15_uc002yzo.2_Silent_p.S573S|PRDM15_uc002yzp.2_Silent_p.S593S|PRDM15_uc002yzr.1_Silent_p.S593S	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	902	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCGGGCACCCGGAAGGCTCCT	0.557													A	43246337	G	A	43246337	2	1	257	1	0	0	0	0	0	0	0	1	12456	1103	39	1		1	PRDM15	21	43246337	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2695816	43246337	4883558	1767	128699											
ABCG1	9619	broad.mit.edu	37	chr21	43702466	43702466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggtggtcagcgcaagcGcctggccatcgcgctggagc	16	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:43702466G>A	uc002zaq.2	+	6	777	c.671G>A	c.(670-672)CGC>CAC	p.R224H	ABCG1_uc002zan.2_Missense_Mutation_p.R226H|ABCG1_uc002zam.2_Missense_Mutation_p.R202H|ABCG1_uc002zao.2_Missense_Mutation_p.R221H|ABCG1_uc002zap.2_Missense_Mutation_p.R224H|ABCG1_uc002zar.2_Missense_Mutation_p.R235H|ABCG1_uc011aev.1_Missense_Mutation_p.R235H	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	224	Cytoplasmic (Potential).|ABC transporter.				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			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	CAGCGCAAGCGCCTGGCCATC	0.617													A	43702466	G	A	43702466	3	1	257	1	0	0	0	0	1	0	0	0	68	1087	38	1	861	1	ABCG1	21	43702466	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	456129	43702466	4427429	1768	128700											
AGPAT3	56894	broad.mit.edu	37	chr21	45379596	45379596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctgaagacccagttcGtgctgcacctgctggtcggc	11	15	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:45379596G>A	uc002zdv.2	+	3	256	c.34G>A	c.(34-36)GTG>ATG	p.V12M	AGPAT3_uc002zdw.2_Missense_Mutation_p.V12M|AGPAT3_uc002zdx.2_Missense_Mutation_p.V99M|AGPAT3_uc002zdy.2_Translation_Start_Site	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	12	Cytoplasmic (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GACCCAGTTCGTGCTGCACCT	0.642													A	45379596	G	A	45379596	3	1	257	1	0	0	0	0	1	0	0	0	388	1145	40	1	36	1	AGPAT3	21	45379596	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1677130	45379596	2750299	1769	128701											
ICOSLG	23308	broad.mit.edu	37	chr21	45657004	45657004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggtttgccaatatacgTaaacatcatttaaatcaaaa	4	8	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:45657004T>C	uc002zee.2	-	3	286	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Missense_Mutation_p.Y51C	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	51	Ig-like V-type.|Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCAATATACGTAAACATCATT	0.527													C	45657004	T	C	45657004	3	2	257	1	0	0	0	0	1	0	0	0	7487	1638	57	3	776	3	ICOSLG	21	45657004	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	277408	45657004	2472891	1770	128702											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994801	45994801	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcccacctcctcctgccaacCcagctgctgccgcccagcct	6	23	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:45994801C>G	uc002zfk.1	+	1	1196	c.1166C>G	c.(1165-1167)CCC>CGC	p.P389R	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	389	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						TCCTGCCAACCCAGCTGCTGC	0.716													G	45994801	C	G	45994801	3	3	257	1	0	0	0	0	1	0	0	0	8511	623	22	5	1168	5	KRTAP10-4	21	45994801	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	337797	45994801	2135094	1771	128703											
ITGB2	3689	broad.mit.edu	37	chr21	46320286	46320286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtgacagcggccgtcGttgggggtcaggatggcgcc	18	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:46320286G>A	uc002zgd.2	-	6	890	c.846C>T	c.(844-846)AAC>AAT	p.N282N	ITGB2_uc002zge.2_Silent_p.N282N|ITGB2_uc002zgf.3_Silent_p.N282N|ITGB2_uc011afl.1_Silent_p.N204N|ITGB2_uc010gpw.2_Silent_p.N225N|ITGB2_uc002zgg.2_Silent_p.N282N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	282	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCGGCCGTCGTTGGGGGTCA	0.632													A	46320286	G	A	46320286	2	1	257	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	ITGB2	21	46320286	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	325485	46320286	1809609	1772	128704											
DIP2A	23181	broad.mit.edu	37	chr21	47966903	47966903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacacaatgcagatgacGttgtggccaccgcactggcc	12	13	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:47966903G>A	uc002zjo.2	+	21	2653	c.2470G>A	c.(2470-2472)GTT>ATT	p.V824I	DIP2A_uc011afy.1_Missense_Mutation_p.V760I|DIP2A_uc011afz.1_Missense_Mutation_p.V820I|DIP2A_uc002zjm.2_Missense_Mutation_p.V824I|DIP2A_uc010gql.2_Missense_Mutation_p.V781I|DIP2A_uc002zjn.2_Missense_Mutation_p.V824I|DIP2A_uc002zjq.2_Missense_Mutation_p.V216I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	824					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		TGCAGATGACGTTGTGGCCAC	0.577													A	47966903	G	A	47966903	3	1	257	1	0	0	0	0	1	0	0	0	4527	1145	40	1	2597	1	DIP2A	21	47966903	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1646617	47966903	162992	1773	128705											
CCT8L2	150160	broad.mit.edu	37	chr22	17071787	17071788	+	Frame_Shift_Ins	INS	-	-	T													tagttattcaatccaaggatINStttttttgtttccacaggag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:17071786_17071787A>AT	uc002zlp.1	-	0	1914_1915	c.1654_1655T>AT	c.(1654-1656)atcfs	p.I552fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	552					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|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)				CAATCCAAGGATTTTTTTTGTT	0.411													T	17071788	-	T	17071787	7	5	257	1	0	1	1	0	0	0	0	0	2961	1493	52	0	23	0	CCT8L2	22	17071787	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08		17071787	34232779	1774	128706											
CECR1	51816	broad.mit.edu	37	chr22	17662814	17662815	+	Frame_Shift_Ins	INS	-	-	A													aggacaagcctttggcaccaINSaacatagctgggtcatcaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:17662813_17662814C>CA	uc002zmk.1	-	7	1550_1551	c.1338_1339G>TG	c.(1336-1341)tttggtfs	p.F446fs	CECR1_uc010gqu.1_Frame_Shift_Ins_p.F446fs|CECR1_uc011agi.1_Frame_Shift_Ins_p.F404fs|CECR1_uc002zmj.1_Frame_Shift_Ins_p.F205fs	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	446					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	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)				CCTTTGGCACCAAACATAGCTG	0.53													A	17662815	-	A	17662814	7	5	257	1	0	1	1	0	0	0	0	0	3205	127	5	0	205	0	CECR1	22	17662814	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	591027	17662814	33641752	1775	128707											
TBX1	6899	broad.mit.edu	37	chr22	19752522	19752522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataccagccccgcttccaCgtggtctatgtggacccacg	10	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:19752522C>T	uc002zqb.2	+	6	855	c.726C>T	c.(724-726)CAC>CAT	p.H242H	TBX1_uc002zqa.1_Silent_p.H242H|TBX1_uc002zqc.2_Silent_p.H242H	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	242	T-box.				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			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCCGCTTCCACGTGGTCTATG	0.542													T	19752522	C	T	19752522	2	4	257	1	0	0	0	0	0	0	0	1	15647	535	19	1		1	TBX1	22	19752522	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2089708	19752522	31552044	1776	128708											
PI4KA	5297	broad.mit.edu	37	chr22	21153546	21153546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctcggattgtgtggtcGggaatcaagtgagcgtccct	15	8	1	1	rs143198544		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:21153546G>A	uc002zsz.3	-	16	1896	c.1665C>T	c.(1663-1665)CCC>CCT	p.P555P	PI4KA_uc010gsq.1_Silent_p.P613P	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	555					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			TTGTGTGGTCGGGAATCAAGT	0.542													A	21153546	G	A	21153546	2	1	257	1	0	0	0	0	0	0	0	1	11873	1103	39	1		1	PI4KA	22	21153546	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1401024	21153546	30151020	1777	128709											
LZTR1	8216	broad.mit.edu	37	chr22	21350083	21350083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctggagggagcgggcgCggaattctgtgacatcactc	14	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:21350083C>T	uc002zto.2	+	17	2094	c.1991C>T	c.(1990-1992)GCG>GTG	p.A664V	LZTR1_uc002ztn.2_Missense_Mutation_p.A623V|LZTR1_uc011ahy.1_Missense_Mutation_p.A645V|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	664					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			GGAGCGGGCGCGGAATTCTGT	0.642													T	21350083	C	T	21350083	3	4	257	1	0	0	0	0	1	0	0	0	9137	768	27	1	2057	1	LZTR1	22	21350083	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	196537	21350083	29954483	1778	128710											
HIC2	23119	broad.mit.edu	37	chr22	21800429	21800429	+	Frame_Shift_Del	DEL	G	G	-													agtgcgcagagcgggagcgaGgggggcagcggccatgccag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:21800428_21800428AG>A	uc002zur.4	+	2	1474	c.1244_1244AG>A	c.(1243-1245)gagfs	p.E415fs	HIC2_uc002zus.4_Frame_Shift_Del_p.E415fs	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	415					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)				AGCGGGAGCGAGGGGGGCAGC	0.657													-	21800429	G	-	21800429	7	5	257	1	0	1	0	1	0	0	0	0	7102	991	35	0	1251	0	HIC2	22	21800429	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	450346	21800429	29504137	1779	128711											
PRAME	23532	broad.mit.edu	37	chr22	22892728	22892728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgatgagagttcttccGtaaatccagcacttgaagtt	9	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:22892728G>A	uc002zwf.2	-	4	529	c.373C>T	c.(373-375)CGG>TGG	p.R125W	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.R109W|PRAME_uc010gtr.2_Missense_Mutation_p.R125W|PRAME_uc002zwg.2_Missense_Mutation_p.R125W|PRAME_uc002zwh.2_Missense_Mutation_p.R125W|PRAME_uc002zwi.2_Missense_Mutation_p.R125W|PRAME_uc002zwj.2_Missense_Mutation_p.R125W|PRAME_uc002zwk.2_Missense_Mutation_p.R125W	NM_206956	NP_996839	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			central_nervous_system(2)	2	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)		GAGTTCTTCCGTAAATCCAGC	0.448													A	22892728	G	A	22892728	3	1	257	1	0	0	0	0	1	0	0	0	12424	1144	40	1	1164	1	PRAME	22	22892728	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1092299	22892728	28411838	1780	128712											
GNAZ	2781	broad.mit.edu	37	chr22	23438485	23438485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttcaagatggtggaCgtgggggggcagaggtcaga	17	8	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:23438485C>T	uc002zwu.1	+	2	1140	c.603C>T	c.(601-603)GAC>GAT	p.D201D	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	201	GTP (By similarity).					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			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGATGGTGGACGTGGGGGGGC	0.572													T	23438485	C	T	23438485	2	4	257	1	0	0	0	0	0	0	0	1	6514	535	19	1		1	GNAZ	22	23438485	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	545757	23438485	27866081	1781	128713											
SLC2A11	66035	broad.mit.edu	37	chr22	24224957	24224957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcccaggtgtacgcctaCgcctcctccgtgttccggaa	9	17	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:24224957C>T	uc002zyn.3	+	8	984	c.885C>T	c.(883-885)TAC>TAT	p.Y295Y	SLC2A11_uc002zyl.1_Silent_p.Y302Y|SLC2A11_uc002zym.3_Silent_p.Y302Y|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.Y302Y|SLC2A11_uc002zyp.3_Silent_p.Y298Y	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform c	295	Extracellular (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1						TGTACGCCTACGCCTCCTCCG	0.662													T	24224957	C	T	24224957	2	4	257	1	0	0	0	0	0	0	0	1	14540	547	19	1		1	SLC2A11	22	24224957	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	786472	24224957	27079609	1782	128714											
UPB1	51733	broad.mit.edu	37	chr22	24896163	24896163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgaagcagcggaggagCagctgagacgaccccgcatt	13	12	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:24896163C>T	uc003aaf.2	+	2	314	c.193C>T	c.(193-195)CAG>TAG	p.Q65*	UPB1_uc003aae.2_Intron|UPB1_uc011ajt.1_Nonsense_Mutation_p.Q65*	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	65					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					AGCGGAGGAGCAGCTGAGACG	0.567													T	24896163	C	T	24896163	4	4	257	1	0	0	0	0	0	1	0	0	16999	711	25	2	199	2	UPB1	22	24896163	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	671206	24896163	26408403	1783	128715											
SNRPD3	6634	broad.mit.edu	37	chr22	24953655	24953655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaagatgtctattggtGtgccgattaaagtactgcat	10	8	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:24953655G>A	uc003aam.1	+	2	453	c.13G>A	c.(13-15)GTG>ATG	p.V5M	C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Missense_Mutation_p.V5M	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	5					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						GTCTATTGGTGTGCCGATTAA	0.478													A	24953655	G	A	24953655	3	1	257	1	0	0	0	0	1	0	0	0	14866	1377	48	4	15	4	SNRPD3	22	24953655	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	57492	24953655	26350911	1784	128716											
SEZ6L	23544	broad.mit.edu	37	chr22	26688972	26688972	+	Frame_Shift_Del	DEL	C	C	-													gcctgacatggcccaggaggCcccccaggaggacaccagcc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:26688971_26688971GC>G	uc003acb.3	+	1	890	c.694_694GC>G	c.(694-696)gccfs	p.A232fs	SEZ6L_uc003acd.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc011akd.2_Frame_Shift_Del_p.A232fs|SEZ6L_uc003ace.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc011akc.2_Frame_Shift_Del_p.A232fs|SEZ6L_uc003acc.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc003acf.1_Frame_Shift_Del_p.A5fs|SEZ6L_uc010gvc.1_Frame_Shift_Del_p.A5fs	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	232						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						GGCCCAGGAGGCCCCCCAGGA	0.642													-	26688972	C	-	26688972	7	5	257	1	0	1	0	1	0	0	0	0	14143	739	26	0	701	0	SEZ6L	22	26688972	Frame_Shift_Del	DEL	C	TCGA-HU-8602-01A-11D-2394-08	1735317	26688972	24615594	1785	128717											
KREMEN1	83999	broad.mit.edu	37	chr22	29533341	29533341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctacagctctcgtgggcGcctgcggtgggaactactca	12	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:29533341G>A	uc011akm.1	+	6	656	c.643G>A	c.(643-645)GCC>ACC	p.A215T	KREMEN1_uc003ael.2_Missense_Mutation_p.A215T|KREMEN1_uc011akn.1_Missense_Mutation_p.A98T	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	213	Extracellular (Potential).				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						TCTCGTGGGCGCCTGCGGTGG	0.592													A	29533341	G	A	29533341	3	1	257	1	0	0	0	0	1	0	0	0	8442	1087	38	1	665	1	KREMEN1	22	29533341	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2844369	29533341	21771225	1786	128718											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951994	30951994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacgatgttgcgccgcggcTggcactcccccgccgagccg	13	18	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:30951994T>C	uc003aig.1	-	4	358	c.218A>G	c.(217-219)CAG>CGG	p.Q73R	GAL3ST1_uc003aih.1_Missense_Mutation_p.Q73R|GAL3ST1_uc003aii.1_Missense_Mutation_p.Q73R|GAL3ST1_uc010gvz.1_Missense_Mutation_p.Q73R	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	73	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GCGCCGCGGCTGGCACTCCCC	0.662													C	30951994	T	C	30951994	3	2	257	1	0	0	0	0	1	0	0	0	6197	1580	55	3	1057	3	GAL3ST1	22	30951994	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1418653	30951994	20352572	1787	128719											
OSBP2	23762	broad.mit.edu	37	chr22	31289928	31289930	+	In_Frame_Del	DEL	AGC	AGC	-													cagccccagctctgacgggaAgcagaagacagtgtaccaga							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31289928_31289930delAGC	uc003aiy.1	+	12	2419_2421	c.2315_2317delAGC	c.(2314-2319)AAGCAG>AAG	p.Q773del	OSBP2_uc011ala.1_In_Frame_Del_p.Q607del|OSBP2_uc010gwc.1_In_Frame_Del_p.Q600del|OSBP2_uc011alb.1_In_Frame_Del_p.Q724del|OSBP2_uc003aiz.1_In_Frame_Del_p.Q772del|OSBP2_uc003aja.1_In_Frame_Del_p.Q406del|OSBP2_uc011alc.1_In_Frame_Del_p.Q515del|OSBP2_uc003ajb.2_In_Frame_Del_p.Q318del|OSBP2_uc011ald.1_In_Frame_Del_p.Q317del|OSBP2_uc010gwd.1_Intron	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	773					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						TCTGACGGGAAGCAGAAGACAGT	0.611													-	31289930	AGC	-	31289928	7	5	257	1	0	1	0	1	0	0	0	0	11274	72	3	0	2361	0	OSBP2	22	31289928	In_Frame_Del	DEL	AGC	TCGA-HU-8602-01A-11D-2394-08	337934	31289928	20014638	1788	128720											
RNF185	91445	broad.mit.edu	37	chr22	31583132	31583133	+	Frame_Shift_Ins	INS	-	-	G													tcctgagaactccagtgcagINSgggggcccagtgggagcagc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31583131_31583132A>AG	uc003akb.3	+	1	251_252	c.51_52A>AG	c.(49-54)gcagggfs	p.A17fs	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_5'UTR|RNF185_uc003akc.3_5'UTR|RNF185_uc003ake.3_Frame_Shift_Ins_p.A17fs	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	17						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						ACTCCAGTGCAGGGGGGCCCAG	0.604													G	31583133	-	G	31583132	7	5	257	1	0	1	1	0	0	0	0	0	13468	1000	35	0	54	0	RNF185	22	31583132	Frame_Shift_Ins	INS	-	TCGA-HU-8602-01A-11D-2394-08	293204	31583132	19721434	1789	128721											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31837925	31837925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtaggaactggggatgCcaaggtgggtgtttttctcc	15	6	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31837925C>T	uc003akz.1	-	17	2550	c.2386G>A	c.(2386-2388)GCA>ACA	p.A796T	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.A451T|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.A476T|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.A796T|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.A622T|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.A286T	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	796						nucleus	protein binding|protein transporter activity			ovary(1)	1						ACTGGGGATGCCAAGGTGGGT	0.542													T	31837925	C	T	31837925	3	4	257	1	0	0	0	0	1	0	0	0	5035	739	26	2	583	2	EIF4ENIF1	22	31837925	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	254793	31837925	19466641	1790	128722											
SFI1	9814	broad.mit.edu	37	chr22	31969137	31969137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcagcactggcaaaaaCggagatttctaaaggcctgg	10	9	3	1	rs76914885		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31969137C>T	uc003ale.2	+	9	1252	c.859C>T	c.(859-861)CGG>TGG	p.R287W	SFI1_uc003ald.1_Missense_Mutation_p.R263W|SFI1_uc003alf.2_Missense_Mutation_p.R287W|SFI1_uc003alg.2_Missense_Mutation_p.R205W|SFI1_uc011alp.1_Missense_Mutation_p.R205W|SFI1_uc011alq.1_Missense_Mutation_p.R263W|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	287	HAT 3.				G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CTGGCAAAAACGGAGATTTCT	0.493											OREG0003525	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	31969137	C	T	31969137	3	4	257	1	0	0	0	0	1	0	0	0	14156	527	19	1	889	1	SFI1	22	31969137	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	131212	31969137	19335429	1791	128723											
DEPDC5	9681	broad.mit.edu	37	chr22	32198810	32198810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatcctgaccaagcagcGgatgatagataatggtaatg	11	7	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:32198810G>A	uc003als.2	+	15	1209	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	DEPDC5_uc011als.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alu.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R356Q|DEPDC5_uc003alr.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alt.1_Missense_Mutation_p.R328Q	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	356					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ACCAAGCAGCGGATGATAGAT	0.512													A	32198810	G	A	32198810	3	1	257	1	0	0	0	0	1	0	0	0	4442	1116	39	1	1121	1	DEPDC5	22	32198810	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	229673	32198810	19105756	1792	128724											
MCM5	4174	broad.mit.edu	37	chr22	35806781	35806781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaacagggttaccatcaTgggcatctactccatcaaga	10	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:35806781T>C	uc003anu.3	+	7	891	c.797T>C	c.(796-798)ATG>ACG	p.M266T	MCM5_uc010gwr.2_Missense_Mutation_p.M75T|MCM5_uc003anv.3_Missense_Mutation_p.M223T|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.M50T	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	266					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			ovary(1)	1						GTTACCATCATGGGCATCTAC	0.557													C	35806781	T	C	35806781	3	2	257	1	0	0	0	0	1	0	0	0	9390	1464	51	3	819	3	MCM5	22	35806781	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	3607971	35806781	15497785	1793	128725											
ELFN2	114794	broad.mit.edu	37	chr22	37769879	37769879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtccccactgctgctgcCgcctcccagaaaagaggccg	13	16	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:37769879C>T	uc003asq.3	-	3	2482	c.1696G>A	c.(1696-1698)GGC>AGC	p.G566S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	566	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CTGCTGCTGCCGCCTCCCAGA	0.637													T	37769879	C	T	37769879	3	4	257	1	0	0	0	0	1	0	0	0	5058	652	23	1	770	1	ELFN2	22	37769879	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1963098	37769879	13534687	1794	128726											
GGA1	26088	broad.mit.edu	37	chr22	38016834	38016834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccagggattgtaaagtccGaccccaagcttccagatgac	9	12	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:38016834G>A	uc003atc.2	+	6	807	c.442G>A	c.(442-444)GAC>AAC	p.D148N	GGA1_uc003atd.2_Missense_Mutation_p.D148N|GGA1_uc003ate.2_Missense_Mutation_p.D148N|GGA1_uc003atf.2_Missense_Mutation_p.D75N	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	148	Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					TGTAAAGTCCGACCCCAAGCT	0.532													A	38016834	G	A	38016834	3	1	257	1	0	0	0	0	1	0	0	0	6352	1058	37	1	530	1	GGA1	22	38016834	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	246955	38016834	13287732	1795	128727											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38484859	38484859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcagcgtgtggttggcGccctccgagtgggagaccag	17	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:38484859G>A	uc003auw.2	-	10	1158	c.1014C>T	c.(1012-1014)GGC>GGT	p.G338G	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	338	SH3.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					TGTGGTTGGCGCCCTCCGAGT	0.602													A	38484859	G	A	38484859	2	1	257	1	0	0	0	0	0	0	0	1	1303	1074	38	1		1	BAIAP2L2	22	38484859	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	468025	38484859	12819707	1796	128728											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38505175	38505175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagttgttgcccaggtacAccaggttctccagggcgggg	16	10	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:38505175A>G	uc003auw.2	-	2	236	c.92T>C	c.(91-93)GTG>GCG	p.V31A		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	31	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					GCCCAGGTACACCAGGTTCTC	0.642													G	38505175	A	G	38505175	3	3	257	1	0	0	0	0	1	0	0	0	1303	159	6	3	1549	3	BAIAP2L2	22	38505175	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	20316	38505175	12799391	1797	128729											
MKL1	57591	broad.mit.edu	37	chr22	40859226	40859226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagagagaggcacttacgCggcatgatcccttggctcac	13	11	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:40859226C>T	uc003ayv.1	-	1	213	c.6G>A	c.(4-6)CCG>CCA	p.P2P	MKL1_uc003ayw.1_Silent_p.P2P|MKL1_uc010gye.1_Silent_p.P2P|MKL1_uc010gyf.1_Silent_p.P2P|MKL1_uc003ayy.1_RNA	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	2	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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GGCACTTACGCGGCATGATCC	0.527			T	RBM15	acute megakaryocytic leukemia								T	40859226	C	T	40859226	2	4	257	1	0	0	0	0	0	0	0	1	9601	782	27	1		1	MKL1	22	40859226	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2354051	40859226	10445340	1798	128730											
MCHR1	2847	broad.mit.edu	37	chr22	41077483	41077483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaacccagacactgacCtctactggttcaccctgtac	6	17	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41077483C>A	uc003ayz.2	+	2	1088	c.820C>A	c.(820-822)CTC>ATC	p.L274I	MCHR1_uc003aza.2_Missense_Mutation_p.L163I	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	274	Extracellular (Potential).				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				0						AGACACTGACCTCTACTGGTT	0.582													A	41077483	C	A	41077483	3	1	257	1	0	0	0	0	1	0	0	0	9382	681	24	5	826	5	MCHR1	22	41077483	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	218257	41077483	10227083	1799	128731											
ZC3H7B	23264	broad.mit.edu	37	chr22	41738549	41738549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagccagagccctgcatgcCcaacactgccttgctcatca	7	17	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41738549C>A	uc003azw.2	+	12	1430	c.1214C>A	c.(1213-1215)CCC>CAC	p.P405H	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	421					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CCCTGCATGCCCAACACTGCC	0.602													A	41738549	C	A	41738549	3	1	257	1	0	0	0	0	1	0	0	0	17570	623	22	5	1256	5	ZC3H7B	22	41738549	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	661066	41738549	9566017	1800	128732											
ZC3H7B	23264	broad.mit.edu	37	chr22	41751493	41751493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctccgaggacacatggGcccagcacctttgacctgca	12	14	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41751493G>A	uc003azw.2	+	18	2271	c.2055G>A	c.(2053-2055)GGG>GGA	p.G685G	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	701					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GGACACATGGGCCCAGCACCT	0.612													A	41751493	G	A	41751493	2	1	257	1	0	0	0	0	0	0	0	1	17570	1190	42	2		2	ZC3H7B	22	41751493	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	12944	41751493	9553073	1801	128733											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753409	41753409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagcccctgctgctgcTgccaccgccaccactgggga	11	18	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41753409T>C	uc003azw.2	+	23	3126	c.2910T>C	c.(2908-2910)GCT>GCC	p.A970A	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	986	Poly-Ala.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CTGCTGCTGCTGCCACCGCCA	0.652													C	41753409	T	C	41753409	2	2	257	1	0	0	0	0	0	0	0	1	17570	1567	55	3		3	ZC3H7B	22	41753409	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1916	41753409	9551157	1802	128734											
XRCC6	2547	broad.mit.edu	37	chr22	42024155	42024155	+	Frame_Shift_Del	DEL	T	T	-													ttcaggaagagatagtttgaTttttttggttgatgcctcca							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42024154_42024154AT>A	uc003bao.1	+	2	185	c.115_115AT>A	c.(115-117)attfs	p.I39fs	XRCC6_uc003bap.1_Frame_Shift_Del_p.I39fs|XRCC6_uc011apc.1_Intron|XRCC6_uc003bar.2_Frame_Shift_Del_p.I39fs	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	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						AGATAGTTTGATTTTTTTGGT	0.333								Non-homologous end-joining					-	42024155	T	-	42024155	7	5	257	1	0	1	0	1	0	0	0	0	17454	1493	52	0	122	0	XRCC6	22	42024155	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	270746	42024155	9280411	1803	128735											
NHP2L1	4809	broad.mit.edu	37	chr22	42071182	42071182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactcagagatgccccTgttgagggttttggtggctg	15	7	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42071182T>C	uc003bat.2	-	3	336	c.142A>G	c.(142-144)AGG>GGG	p.R48G	NHP2L1_uc003bau.2_Missense_Mutation_p.R48G|NHP2L1_uc003bav.2_Missense_Mutation_p.R48G|NHP2L1_uc003baw.2_Missense_Mutation_p.R48G	NM_005008	NP_004999	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1	48					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding				0						GAGATGCCCCTGTTGAGGGTT	0.557													C	42071182	T	C	42071182	3	2	257	1	0	0	0	0	1	0	0	0	10410	1579	55	3	248	3	NHP2L1	22	42071182	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	47027	42071182	9233384	1804	128736											
CYP2D6	1565	broad.mit.edu	37	chr22	42522581	42522581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtaccccattctagcGgggcacagcacaaagctcat	9	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42522581G>A	uc003bce.2	-	9	1579	c.1489C>T	c.(1489-1491)CGC>TGC	p.R497C	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R191C|CYP2D6_uc003bcf.2_Missense_Mutation_p.R446C	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	497							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			breast(1)|skin(1)	2						CCATTCTAGCGGGGCACAGCA	0.587													A	42522581	G	A	42522581	3	1	257	1	0	0	0	0	1	0	0	0	4169	1116	39	1	8	1	CYP2D6	22	42522581	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	451399	42522581	8781985	1805	128737											
RRP7A	27341	broad.mit.edu	37	chr22	42912035	42912035	+	Frame_Shift_Del	DEL	A	A	-													accggaactggcttgggatgAaaaaacttcgaccttgactc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42912034_42912034GA>G	uc003bcp.3	-	0	888	c.394_394TC>C	c.(394-396)catfs	p.H132fs	RRP7A_uc003bcq.3_Frame_Shift_Del_p.H109fs	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	109							RNA binding|nucleotide 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						GGCTTGGGATGAAAAAACTTC	0.627													-	42912035	A	-	42912035	7	5	257	1	0	1	0	1	0	0	0	0	13689	243	9	0	538	0	RRP7A	22	42912035	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	389454	42912035	8392531	1806	128738											
PACSIN2	11252	broad.mit.edu	37	chr22	43275116	43275116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcccgtcagggtgacgccGtcagtggccttcttcttctc	11	14	5	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:43275116G>A	uc010gzg.2	-	8	1188	c.966C>T	c.(964-966)GAC>GAT	p.D322D	PACSIN2_uc003bdg.3_Silent_p.D322D|PACSIN2_uc003bde.3_Silent_p.D322D|PACSIN2_uc003bdf.3_Silent_p.D322D	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	322					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				GGGTGACGCCGTCAGTGGCCT	0.602													A	43275116	G	A	43275116	2	1	257	1	0	0	0	0	0	0	0	1	11375	1136	40	1		1	PACSIN2	22	43275116	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	363081	43275116	8029450	1807	128739											
EFCAB6	64800	broad.mit.edu	37	chr22	43933296	43933296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccccctgtctggccaCgtccttctccttgcattctt	7	16	3	0	rs142679598	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:43933296C>T	uc003bdy.1	-	29	4224	c.4009G>A	c.(4009-4011)GTG>ATG	p.V1337M	EFCAB6_uc003bdz.1_Missense_Mutation_p.V1185M|EFCAB6_uc010gzi.1_Missense_Mutation_p.V1185M	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1337	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTCTGGCCACGTCCTTCTCC	0.557													T	43933296	C	T	43933296	3	4	257	1	0	0	0	0	1	0	0	0	4939	536	19	1	512	1	EFCAB6	22	43933296	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	658180	43933296	7371270	1808	128740											
PNPLA5	150379	broad.mit.edu	37	chr22	44285694	44285694	+	Frame_Shift_Del	DEL	G	G	-													ctcacctcccctctgaactcGggggggatcagcccgcagta							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:44285694delG	uc003beg.2	-	3	574	c.477delC	c.(475-477)CCCfs	p.P159fs	PNPLA5_uc011aqc.1_Frame_Shift_Del_p.R34fs|PNPLA5_uc003beh.2_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	159	Patatin.				lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCTGAACTCGGGGGGGATCA	0.552													-	44285694	G	-	44285694	7	5	257	1	0	1	0	1	0	0	0	0	12168	1103	39	0	840	0	PNPLA5	22	44285694	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	352398	44285694	7018872	1809	128741											
PPARA	5465	broad.mit.edu	37	chr22	46627911	46627911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgacattgctaaaatacGgagtttatgaggccatattc	9	6	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:46627911G>A	uc003bgw.1	+	8	1200	c.934G>A	c.(934-936)GGA>AGA	p.G312R	PPARA_uc003bgx.1_Missense_Mutation_p.G312R|PPARA_uc010hab.1_Missense_Mutation_p.G312R|PPARA_uc003bhb.1_Missense_Mutation_p.G312R|PPARA_uc010hac.1_Missense_Mutation_p.G109R	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	312	Ligand-binding.|Required for heterodimerization with RXRA.				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			ovary(1)|central_nervous_system(1)	2		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)	GCTAAAATACGGAGTTTATGA	0.483													A	46627911	G	A	46627911	3	1	257	1	0	0	0	0	1	0	0	0	12297	1117	39	1	952	1	PPARA	22	46627911	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2342217	46627911	4676655	1810	128742											
ALG12	79087	broad.mit.edu	37	chr22	50301550	50301550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggctgcagcccaggcCgcggggcagggctgagtaga	19	11	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50301550C>T	uc003biy.2	-	7	1085	c.811G>A	c.(811-813)GGC>AGC	p.G271S		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	271	Helical; (Potential).				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					0		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)		CAGCCCAGGCCGCGGGGCAGG	0.662													T	50301550	C	T	50301550	3	4	257	1	0	0	0	0	1	0	0	0	514	652	23	1	671	1	ALG12	22	50301550	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3673639	50301550	1003016	1811	128743											
PLXNB2	23654	broad.mit.edu	37	chr22	50716655	50716655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccacctcgtcggtcggcCgcaccaggtgccacacccgg	12	19	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50716655C>A	uc003bkv.3	-	31	4884	c.4778G>T	c.(4777-4779)CGG>CTG	p.R1593L	PLXNB2_uc003bkt.1_Missense_Mutation_p.R385L|PLXNB2_uc003bku.1_Missense_Mutation_p.R578L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1593	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		GTCGGTCGGCCGCACCAGGTG	0.672													A	50716655	C	A	50716655	3	1	257	1	0	0	0	0	1	0	0	0	12124	652	23	5	766	5	PLXNB2	22	50716655	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	415105	50716655	587911	1812	128744											
SAPS2	9701	broad.mit.edu	37	chr22	50882364	50882364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagtgactgctgccccAgccgtggctgtgccccccga	13	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50882364A>G	uc003blb.1	+	24	3092	c.2670A>G	c.(2668-2670)CCA>CCG	p.P890P	SAPS2_uc003bky.1_Silent_p.P857P|SAPS2_uc003bkz.1_Silent_p.P856P|SAPS2_uc003blc.2_Silent_p.P883P|SAPS2_uc003bla.1_Silent_p.P857P|SAPS2_uc003bld.1_Silent_p.P416P	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	890						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		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;0.222)		CTGCTGCCCCAGCCGTGGCTG	0.662													G	50882364	A	G	50882364	2	3	257	1	0	0	0	0	0	0	0	1	13837	175	7	3		3	SAPS2	22	50882364	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	165709	50882364	422202	1813	128745											
SBF1	6305	broad.mit.edu	37	chr22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-													tggccccggtgctcccagctGggggggttgtacttcttgcg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					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)		TGCTCCCAGCTGGGGGGGTTG	0.647													-	50898756	G	-	50898756	7	5	257	1	0	1	0	1	0	0	0	0	13858	1335	47	0	2521	0	SBF1	22	50898756	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	16392	50898756	405810	1814	128746											
CHKB	1120	broad.mit.edu	37	chr22	51020280	51020280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcacgctttctagcaccagGgagtccacgccctgaaaaag	9	13	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51020280G>A	uc003bms.2	-	3	563	c.345C>T	c.(343-345)TCC>TCT	p.S115S	CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_5'UTR|CHKB_uc003bmv.2_Silent_p.S115S|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	115					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		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)	CTAGCACCAGGGAGTCCACGC	0.612													A	51020280	G	A	51020280	2	1	257	1	0	0	0	0	0	0	0	1	3348	1219	43	4		4	CHKB	22	51020280	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	121524	51020280	284286	1815	128747											
SHANK3	85358	broad.mit.edu	37	chr22	51117231	51117231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagcccagctggacaaCgccacggacctgctaaaggt	11	15	0	0	rs79762996	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51117231C>T	uc003bne.1	+	5	483	c.483C>T	c.(481-483)AAC>AAT	p.N161N		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	161										central_nervous_system(1)	1		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)		AGCTGGACAACGCCACGGACC	0.652													T	51117231	C	T	51117231	2	4	257	1	0	0	0	0	0	0	0	1	14266	535	19	1		1	SHANK3	22	51117231	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	96951	51117231	187335	1816	128748											
SHANK3	85358	broad.mit.edu	37	chr22	51133315	51133315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgatatcaacctgaagggGgaggcacagccagcagcttc	13	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51133315G>A	uc003bne.1	+	10	1143	c.1143G>A	c.(1141-1143)GGG>GGA	p.G381G	SHANK3_uc003bnf.1_5'Flank	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	381										central_nervous_system(1)	1		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)		ACCTGAAGGGGGAGGCACAGC	0.652													A	51133315	G	A	51133315	2	1	257	1	0	0	0	0	0	0	0	1	14266	1219	43	4		4	SHANK3	22	51133315	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	16084	51133315	171251	1817	128749											
SHANK3	85358	broad.mit.edu	37	chr22	51143260	51143260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgtggcctggagggcCgggctgcgcacgggagactt	21	9	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51143260C>T	uc003bne.1	+	16	1914	c.1914C>T	c.(1912-1914)GCC>GCT	p.A638A	SHANK3_uc003bnf.1_Silent_p.A93A	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	638										central_nervous_system(1)	1		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)		CCTGGAGGGCCGGGCTGCGCA	0.687													T	51143260	C	T	51143260	2	4	257	1	0	0	0	0	0	0	0	1	14266	639	23	1		1	SHANK3	22	51143260	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	9945	51143260	161306	1818	128750											
ZBED1	9189	broad.mit.edu	37	chrX	2408490	2408490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttggagaaggcggtggCgaaggcttcacgcatctgct	15	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:2408490C>T	uc004cqg.2	-	2	472	c.271G>A	c.(271-273)GCC>ACC	p.A91T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.A91T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	91						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				AAGGCGGTGGCGAAGGCTTCA	0.627													T	2408490	C	T	2408490	3	4	257	1	0	0	0	0	1	0	0	0	17514	768	27	1	1817	1	ZBED1	23	2408490	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08		2408490	152862070	1819	128751											
ARSE	415	broad.mit.edu	37	chrX	2856237	2856237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggccgggagcaccccGggccagcggaagatcccggg	18	16	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:2856237G>A	uc004crc.3	-	9	1438	c.1188C>T	c.(1186-1188)CCC>CCT	p.P396P	ARSE_uc011mhi.1_Silent_p.P342P|ARSE_uc011mhh.1_Silent_p.P421P	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	396					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		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)				GGAGCACCCCGGGCCAGCGGA	0.647													A	2856237	G	A	2856237	2	1	257	1	0	0	0	0	0	0	0	1	990	1103	39	1		1	ARSE	23	2856237	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	447747	2856237	152414323	1820	128752											
MXRA5	25878	broad.mit.edu	37	chrX	3261813	3261813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggccagcgccactcgcGgatggccccaaagcaggatc	14	15	0	0	rs146747759	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:3261813G>A	uc004crg.3	-	2	219	c.62C>T	c.(61-63)CCG>CTG	p.P21L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	21						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCCACTCGCGGATGGCCCCA	0.657													A	3261813	G	A	3261813	3	1	257	1	0	0	0	0	1	0	0	0	10003	1116	39	1	8448	1	MXRA5	23	3261813	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	405576	3261813	152008747	1821	128753											
PRKX	5613	broad.mit.edu	37	chrX	3544540	3544540	+	Frame_Shift_Del	DEL	A	A	-													atgccaaacgggttgtcatcAaaaaacggaggaaacctgtt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:3544539_3544539CA>C	uc010nde.3	-	4	1117	c.736_736TG>G	c.(736-738)gatfs	p.D246fs		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	246	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)				GGGTTGTCATCAAAAAACGGA	0.368													-	3544540	A	-	3544540	7	5	257	1	0	1	0	1	0	0	0	0	12527	127	5	0	357	0	PRKX	23	3544540	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	282727	3544540	151726020	1822	128754											
NLGN4X	57502	broad.mit.edu	37	chrX	5827119	5827119	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtagtgggacagggtcaAcaggctgacacaggaggccc	16	9	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:5827119A>G	uc010ndh.2	-	4	1288	c.787T>C	c.(787-789)TTG>CTG	p.L263L	NLGN4X_uc004crp.2_Silent_p.L283L|NLGN4X_uc004crq.2_Silent_p.L263L|NLGN4X_uc010ndi.2_Silent_p.L300L|NLGN4X_uc004crr.2_Silent_p.L263L|NLGN4X_uc010ndj.2_Silent_p.L263L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	263	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						GACAGGGTCAACAGGCTGACA	0.562													G	5827119	A	G	5827119	2	3	257	1	0	0	0	0	0	0	0	1	10464	40	2	3		3	NLGN4X	23	5827119	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2282579	5827119	149443441	1823	128755											
KAL1	3730	broad.mit.edu	37	chrX	8553428	8553428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagtcagttgaactcgctCgtctgtggtctgaggggaca	14	9	4	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:8553428C>T	uc004csf.2	-	6	886	c.736G>A	c.(736-738)GAG>AAG	p.E246K		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	246	Fibronectin type-III 1.				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			ovary(3)|pancreas(1)	4						TGAACTCGCTCGTCTGTGGTC	0.488													T	8553428	C	T	8553428	3	4	257	1	0	0	0	0	1	0	0	0	7974	893	31	1	1342	1	KAL1	23	8553428	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2726309	8553428	146717132	1824	128756											
WWC3	55841	broad.mit.edu	37	chrX	10077879	10077879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcctggccaagcacggccGaggctgacagggaccggctg	16	13	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:10077879G>A	uc004csx.3	+	9	991	c.793G>A	c.(793-795)GAG>AAG	p.E265K	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	265	Potential.									ovary(4)	4						AAGCACGGCCGAGGCTGACAG	0.622													A	10077879	G	A	10077879	3	1	257	1	0	0	0	0	1	0	0	0	17410	1059	37	1	823	1	WWC3	23	10077879	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1524451	10077879	145192681	1825	128757											
ARHGAP6	395	broad.mit.edu	37	chrX	11187743	11187743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgatgacttctgcttgTgcagcaggttgggtccaaat	12	8	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:11187743T>C	uc004cup.1	-	9	2564	c.1691A>G	c.(1690-1692)CAC>CGC	p.H564R	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.H564R|ARHGAP6_uc004cum.1_Missense_Mutation_p.H361R|ARHGAP6_uc004cun.1_Missense_Mutation_p.H384R|ARHGAP6_uc010neb.1_Missense_Mutation_p.H386R|ARHGAP6_uc011mif.1_Missense_Mutation_p.H361R	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	564	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			urinary_tract(1)|lung(1)	2						CTTCTGCTTGTGCAGCAGGTT	0.438													C	11187743	T	C	11187743	3	2	257	1	0	0	0	0	1	0	0	0	887	1696	59	3	1375	3	ARHGAP6	23	11187743	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	1109864	11187743	144082817	1826	128758											
PIGA	5277	broad.mit.edu	37	chrX	15349840	15349840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgatttccataagcatgGgtgacaattataaccttatg	7	7	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:15349840G>A	uc004cwr.2	-	2	313	c.213C>T	c.(211-213)ACC>ACT	p.T71T	PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.T71T|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.T71T	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	71	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					CATAAGCATGGGTGACAATTA	0.448													A	15349840	G	A	15349840	2	1	257	1	0	0	0	0	0	0	0	1	11884	1219	43	4		4	PIGA	23	15349840	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4162097	15349840	139920720	1827	128759											
AP1S2	8905	broad.mit.edu	37	chrX	15845479	15845479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttcttcaagaacactaCgtggggtttcagcttcctgt	8	10	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:15845479C>T	uc004cxi.2	-	5	733	c.443G>A	c.(442-444)CGT>CAT	p.R148H	AP1S2_uc004cxh.2_3'UTR|AP1S2_uc010nex.2_Missense_Mutation_p.R193H	NM_003916	NP_003907	P56377	AP1S2_HUMAN	adaptor-related protein complex 1 sigma 2	148					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity				0	Hepatocellular(33;0.183)					AAGAACACTACGTGGGGTTTC	0.453													T	15845479	C	T	15845479	3	4	257	1	0	0	0	0	1	0	0	0	737	536	19	1	34	1	AP1S2	23	15845479	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	495639	15845479	139425081	1828	128760											
BEND2	139105	broad.mit.edu	37	chrX	18221769	18221769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccataggtactgctgtagtAgcattggcaaatgagatgac	12	7	0	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:18221769A>G	uc004cyj.3	-	5	913	c.759T>C	c.(757-759)GCT>GCC	p.A253A	BEND2_uc010nfb.2_Silent_p.A253A	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	253										ovary(3)|kidney(1)|central_nervous_system(1)	5						CTGCTGTAGTAGCATTGGCAA	0.448													G	18221769	A	G	18221769	2	3	257	1	0	0	0	0	0	0	0	1	1398	407	15	3		3	BEND2	23	18221769	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2376290	18221769	137048791	1829	128761											
PHKA2	5256	broad.mit.edu	37	chrX	18923920	18923920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacttagaatatggtgcAggagatttttcatatcgaaa	8	7	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:18923920A>G	uc004cyv.3	-	26	3294	c.2864T>C	c.(2863-2865)CTG>CCG	p.L955P	PHKA2_uc004cyu.3_Missense_Mutation_p.L253P|PHKA2_uc010nfe.1_Missense_Mutation_p.L5P|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	955					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					AATATGGTGCAGGAGATTTTT	0.438													G	18923920	A	G	18923920	3	3	257	1	0	0	0	0	1	0	0	0	11844	188	7	3	875	3	PHKA2	23	18923920	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	702151	18923920	136346640	1830	128762											
GPR64	10149	broad.mit.edu	37	chrX	19028804	19028804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttgatcatttctcctgCgaggttaggctccaggctgc	12	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:19028804C>T	uc004cyx.2	-	17	1356	c.1192G>A	c.(1192-1194)GCA>ACA	p.A398T	GPR64_uc004cyy.2_Missense_Mutation_p.A395T|GPR64_uc004cyz.2_Missense_Mutation_p.A384T|GPR64_uc004czb.2_Missense_Mutation_p.A398T|GPR64_uc004czc.2_Missense_Mutation_p.A382T|GPR64_uc004czd.2_Missense_Mutation_p.A374T|GPR64_uc004cze.2_Missense_Mutation_p.A368T|GPR64_uc004czf.2_Missense_Mutation_p.A360T|GPR64_uc004cza.2_Missense_Mutation_p.A376T|GPR64_uc004cyw.2_Missense_Mutation_p.A382T|GPR64_uc010nfj.2_Missense_Mutation_p.A368T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	398	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					ATTTCTCCTGCGAGGTTAGGC	0.517													T	19028804	C	T	19028804	3	4	257	1	0	0	0	0	1	0	0	0	6705	768	27	1	1913	1	GPR64	23	19028804	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	104884	19028804	136241756	1831	128763											
YY2	404281	broad.mit.edu	37	chrX	21875040	21875040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagcaaaaagcccagCggcaagagtgccaccagcac	10	15	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:21875040C>T	uc011mjp.1	+	1	438	c.438C>T	c.(436-438)AGC>AGT	p.S146S	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.S364S|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						aaaagcccagcGGCAAGAGTG	0.512													T	21875040	C	T	21875040	2	4	257	1	0	0	0	0	0	0	0	1	17506	767	27	1		1	YY2	23	21875040	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2846236	21875040	133395520	1832	128764											
YY2	404281	broad.mit.edu	37	chrX	21875629	21875629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgataagcccttcgtgTgccccttcgatgtttgcaac	10	14	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:21875629T>C	uc011mjp.1	+	1	1027	c.1027T>C	c.(1027-1029)TGC>CGC	p.C343R	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.C561R|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	343	Mediates transcriptional repression.|C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GCCCTTCGTGTGCCCCTTCGA	0.498													C	21875629	T	C	21875629	3	2	257	1	0	0	0	0	1	0	0	0	17506	1696	59	3	1029	3	YY2	23	21875629	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	589	21875629	133394931	1833	128765											
KLHL15	80311	broad.mit.edu	37	chrX	24006748	24006748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacagcaaattcagagcGtggtacagacatatctgcca	8	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:24006748G>A	uc004dba.3	-	4	1361	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	369	Kelch 1.									ovary(1)|breast(1)	2						AATTCAGAGCGTGGTACAGAC	0.468													A	24006748	G	A	24006748	3	1	257	1	0	0	0	0	1	0	0	0	8371	1145	40	1	713	1	KLHL15	23	24006748	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2131119	24006748	131263812	1834	128766											
FAM48B2	170067	broad.mit.edu	37	chrX	24331377	24331377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaggacgtctctgttggGcaatttcagtgatattctct	9	8	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:24331377G>A	uc011mjw.1	-	1	56	c.56C>T	c.(55-57)GCC>GTC	p.A19V		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	19											0						TCTCTGTTGGGCAATTTCAGT	0.443													A	24331377	G	A	24331377	3	1	257	1	0	0	0	0	1	0	0	0	5574	1203	42	2	2400	2	FAM48B2	23	24331377	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	324629	24331377	130939183	1835	128767											
MAGEB1	4112	broad.mit.edu	37	chrX	30269562	30269562	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagagagagcccaagtcCgatccagtgttagagccagg	14	9	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:30269562C>T	uc004dcc.2	+	4	1272	c.952C>T	c.(952-954)CGA>TGA	p.R318*	MAGEB1_uc004dcd.2_Nonsense_Mutation_p.R318*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.R318*	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	318											0						AGCCCAAGTCCGATCCAGTGT	0.542													T	30269562	C	T	30269562	4	4	257	1	0	0	0	0	0	1	0	0	9172	644	23	1	954	1	MAGEB1	23	30269562	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5938185	30269562	125000998	1836	128768											
DMD	1756	broad.mit.edu	37	chrX	31198593	31198593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattaaagtgctttagactcCtgtacctgataaagagcaaa	7	7	0	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:31198593C>A	uc004dda.1	-	69	10224	c.9980G>T	c.(9979-9981)AGG>ATG	p.R3327M	DMD_uc004dcq.1_Missense_Mutation_p.R598M|DMD_uc004dcr.1_Missense_Mutation_p.R867M|DMD_uc004dcs.1_Missense_Mutation_p.R867M|DMD_uc004dct.1_Missense_Mutation_p.R867M|DMD_uc004dcu.1_Missense_Mutation_p.R867M|DMD_uc004dcv.1_Missense_Mutation_p.R867M|DMD_uc004dcw.2_Missense_Mutation_p.R1983M|DMD_uc004dcx.2_Missense_Mutation_p.R1986M|DMD_uc004dcz.2_Missense_Mutation_p.R3204M|DMD_uc004dcy.1_Missense_Mutation_p.R3323M|DMD_uc004ddb.1_Missense_Mutation_p.R3319M|DMD_uc004dcm.1_Missense_Mutation_p.R259M|DMD_uc004dcn.1_Missense_Mutation_p.R259M|DMD_uc004dco.1_Missense_Mutation_p.R259M|DMD_uc004dcp.1_Missense_Mutation_p.R259M|DMD_uc011mkb.1_Missense_Mutation_p.R259M|DMD_uc010ngm.2_Missense_Mutation_p.R259M	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3327	Interaction with SYNM (By similarity).|ZZ-type.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				CTTTAGACTCCTGTACCTGAT	0.368													A	31198593	C	A	31198593	3	1	257	1	0	0	0	0	1	0	0	0	4580	681	24	5	1211	5	DMD	23	31198593	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	929031	31198593	124071967	1837	128769											
FAM47B	170062	broad.mit.edu	37	chrX	34962518	34962518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgaggtcgaattcttaCggataaaatactgggacagg	13	5	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:34962518C>T	uc004ddi.1	+	1	1588	c.1570C>T	c.(1570-1572)CGG>TGG	p.R524W		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	524										ovary(3)|breast(1)	4						CGAATTCTTACGGATAAAATA	0.493													T	34962518	C	T	34962518	3	4	257	1	0	0	0	0	1	0	0	0	5570	527	19	1	1572	1	FAM47B	23	34962518	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3763925	34962518	120308042	1838	128770											
FAM47C	442444	broad.mit.edu	37	chrX	37027784	37027784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcctcccaagactcGcggatctcatctccgcccgg	10	18	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:37027784G>A	uc004ddl.1	+	1	1315	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	434										ovary(3)	3						CCCAAGACTCGCGGATCTCAT	0.617													A	37027784	G	A	37027784	3	1	257	1	0	0	0	0	1	0	0	0	5571	1087	38	1	1303	1	FAM47C	23	37027784	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2065266	37027784	118242776	1839	128771											
USP9X	8239	broad.mit.edu	37	chrX	41060361	41060361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccacctgttggaccccGcccacccaaaggattcgtgg	10	16	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:41060361G>A	uc004dfb.2	+	31	5285	c.4652G>A	c.(4651-4653)CGC>CAC	p.R1551H	USP9X_uc004dfc.2_Missense_Mutation_p.R1551H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1551					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			lung(3)|breast(2)|ovary(1)	6						GTTGGACCCCGCCCACCCAAA	0.473													A	41060361	G	A	41060361	3	1	257	1	0	0	0	0	1	0	0	0	17087	1087	38	1	4770	1	USP9X	23	41060361	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	4032577	41060361	114210199	1840	128772											
DDX3X	1654	broad.mit.edu	37	chrX	41202520	41202520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggaaacattgagcttactCgttatactcgcccaactcca	7	12	0	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:41202520C>T	uc004dfe.2	+	7	1450	c.595C>T	c.(595-597)CGT>TGT	p.R199C	DDX3X_uc010nhf.1_Missense_Mutation_p.R183C|DDX3X_uc004dff.2_Missense_Mutation_p.R199C|DDX3X_uc011mkq.1_Missense_Mutation_p.R183C|DDX3X_uc011mkr.1_Missense_Mutation_p.R199C|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	199	Q motif.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TGAGCTTACTCGTTATACTCG	0.398										HNSCC(61;0.18)			T	41202520	C	T	41202520	3	4	257	1	0	0	0	0	1	0	0	0	4358	884	31	1	621	1	DDX3X	23	41202520	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	142159	41202520	114068040	1841	128773											
KDM6A	7403	broad.mit.edu	37	chrX	44879906	44879906	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgatcccagcttttgtcgAgccaaggaaattcatttacg	9	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:44879906A>C	uc004dge.3	+	6	870	c.495A>C	c.(493-495)CGA>CGC	p.R165R	KDM6A_uc010nhk.2_Silent_p.R165R|KDM6A_uc011mkz.1_Silent_p.R165R|KDM6A_uc011mla.1_Silent_p.R165R|KDM6A_uc011mlb.1_Silent_p.R165R|KDM6A_uc011mlc.1_Intron	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	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(4)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GCTTTTGTCGAGCCAAGGAAA	0.363			D|N|F|S		renal|oesophageal SCC|MM								C	44879906	A	C	44879906	2	2	257	1	0	0	0	0	0	0	0	1	8137	291	11	5		5	KDM6A	23	44879906	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	3677386	44879906	110390654	1842	128774											
RBM10	8241	broad.mit.edu	37	chrX	47028858	47028858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatggcagccaggagggcaaGcatgactatgacgactcatc	12	10	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:47028858G>T	uc004dhf.2	+	3	541	c.162G>T	c.(160-162)AAG>AAT	p.K54N	RBM10_uc004dhe.1_Missense_Mutation_p.S52I|RBM10_uc004dhg.2_Missense_Mutation_p.K54N|RBM10_uc004dhh.2_Missense_Mutation_p.K54N|RBM10_uc010nhq.2_Missense_Mutation_p.K54N|RBM10_uc004dhi.2_Missense_Mutation_p.K119N	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	54					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						AGGAGGGCAAGCATGACTATG	0.637													T	47028858	G	T	47028858	3	4	257	1	0	0	0	0	1	0	0	0	13111	962	34	5	168	5	RBM10	23	47028858	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2148952	47028858	108241702	1843	128775											
ZNF41	7592	broad.mit.edu	37	chrX	47307606	47307606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcagcacacatatagggTttttccccagtatgagtttt	7	9	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:47307606T>G	uc004dhs.3	-	4	1756	c.1689A>C	c.(1687-1689)AAA>AAC	p.K563N	ZNF41_uc004dhu.3_Missense_Mutation_p.K555N|ZNF41_uc004dht.3_Missense_Mutation_p.K435N|ZNF41_uc004dhv.3_Missense_Mutation_p.K531N|ZNF41_uc004dhw.3_Missense_Mutation_p.K523N|ZNF41_uc004dhy.3_Missense_Mutation_p.K521N|ZNF41_uc004dhx.3_Missense_Mutation_p.K521N|ZNF41_uc011mlm.1_Missense_Mutation_p.K435N	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	563						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				ACATATAGGGTTTTTCCCCAG	0.418													G	47307606	T	G	47307606	3	3	257	1	0	0	0	0	1	0	0	0	17886	1722	60	5	780	5	ZNF41	23	47307606	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	278748	47307606	107962954	1844	128776											
KCND1	3750	broad.mit.edu	37	chrX	48826003	48826003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggcctgtgggaagcGttcgccacagggctgctccc	14	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:48826003G>A	uc004dlx.1	-	1	2249	c.676C>T	c.(676-678)CGC>TGC	p.R226C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	226						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						TGTGGGAAGCGTTCGCCACAG	0.607													A	48826003	G	A	48826003	3	1	257	1	0	0	0	0	1	0	0	0	8018	1145	40	1	1291	1	KCND1	23	48826003	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1518397	48826003	106444557	1845	128777											
CACNA1F	778	broad.mit.edu	37	chrX	49086760	49086760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcataaatgatgatgaCgaagagcacgagcagtgcaa	13	6	0	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:49086760C>T	uc004dnb.2	-	6	801	c.739G>A	c.(739-741)GTC>ATC	p.V247I	CACNA1F_uc010nip.2_Missense_Mutation_p.V247I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	247	I.|Helical; Name=S5 of repeat I; (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	ATGATGATGACGAAGAGCACG	0.567													T	49086760	C	T	49086760	3	4	257	1	0	0	0	0	1	0	0	0	2543	536	19	1	5366	1	CACNA1F	23	49086760	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	260757	49086760	106183800	1846	128778											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142794	49142794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgggccctgaacagcGccctggctgaggagatcacg	15	13	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:49142794G>A	uc004dnh.1	+	4	1658	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	PPP1R3F_uc011mnd.1_Missense_Mutation_p.A219T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A202T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A202T	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	548	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CCTGAACAGCGCCCTGGCTGA	0.637													A	49142794	G	A	49142794	3	1	257	1	0	0	0	0	1	0	0	0	12375	1087	38	1	1656	1	PPP1R3F	23	49142794	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	56034	49142794	106127766	1847	128779											
SHROOM4	57477	broad.mit.edu	37	chrX	50350731	50350731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcttcttcttcttcCtcctcctcctcctcctcctg	1	21	5	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:50350731C>T	uc004dpe.2	-	6	3437	c.3411G>A	c.(3409-3411)GAG>GAA	p.E1137E	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1137	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					cttcttcttcctcctcctcct	0.219													T	50350731	C	T	50350731	2	4	257	1	0	0	0	0	0	0	0	1	14296	680	24	4		4	SHROOM4	23	50350731	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1207937	50350731	104919829	1848	128780											
SHROOM4	57477	broad.mit.edu	37	chrX	50377272	50377272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcttttctggagctgggCcttcctcctctgaatttcat	8	12	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:50377272C>T	uc004dpe.2	-	4	1827	c.1801G>A	c.(1801-1803)GCC>ACC	p.A601T	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.A485T	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	601					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					TGGAGCTGGGCCTTCCTCCTC	0.572													T	50377272	C	T	50377272	3	4	257	1	0	0	0	0	1	0	0	0	14296	739	26	2	2704	2	SHROOM4	23	50377272	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	26541	50377272	104893288	1849	128781											
NUDT11	55190	broad.mit.edu	37	chrX	51239179	51239179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagcggtccgggtaccGgctgctactcactaacagga	12	13	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:51239179G>A	uc010njt.2	-	1	281	c.118C>T	c.(118-120)CGG>TGG	p.R40W		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	nudix-type motif 11	40	Nudix hydrolase.	Substrate (By similarity).				cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					TCCGGGTACCGGCTGCTACTC	0.692										HNSCC(48;0.14)			A	51239179	G	A	51239179	3	1	257	1	0	0	0	0	1	0	0	0	10727	1115	39	1	384	1	NUDT11	23	51239179	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	861907	51239179	104031381	1850	128782											
HUWE1	10075	broad.mit.edu	37	chrX	53575177	53575177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccttattgcccctttcccGatcactctcacagtttgttt	6	14	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:53575177G>A	uc004dsp.2	-	68	10495	c.10093C>T	c.(10093-10095)CGG>TGG	p.R3365W	HUWE1_uc004dsn.2_Missense_Mutation_p.R2173W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3365					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCCCTTTCCCGATCACTCTCA	0.512													A	53575177	G	A	53575177	3	1	257	1	0	0	0	0	1	0	0	0	7461	1057	37	1	3099	1	HUWE1	23	53575177	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	2335998	53575177	101695383	1851	128783											
HUWE1	10075	broad.mit.edu	37	chrX	53643948	53643950	+	In_Frame_Del	DEL	CTC	CTC	-													taccaaggggatcagaacttCtcctcctccgcatggctggg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:53643947_53643949TCTC>T	uc004dsp.3	-	20	2341_2343	c.1939_1941GAGA>A	c.(1939-1941)aga>A	p.R647del		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	647					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						GATCAGAACTTCTCCTCCTCCGC	0.414													-	53643950	CTC	-	53643948	7	5	257	1	0	1	0	1	0	0	0	0	7461	913	32	0	11440	0	HUWE1	23	53643948	In_Frame_Del	DEL	CTC	TCGA-HU-8602-01A-11D-2394-08	68771	53643948	101626612	1852	128784											
FAM120C	54954	broad.mit.edu	37	chrX	54209078	54209078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcggcctggcaccgaCggccccactcggccagccgg	14	20	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:54209078C>A	uc004dsz.3	-	1	637	c.554G>T	c.(553-555)CGT>CTT	p.R185L	FAM120C_uc011moh.1_Missense_Mutation_p.R185L|FAM120C_uc004dta.2_Missense_Mutation_p.R185L	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	185										ovary(1)|central_nervous_system(1)	2						CTGGCACCGACGGCCCCACTC	0.721													A	54209078	C	A	54209078	3	1	257	1	0	0	0	0	1	0	0	0	5418	536	19	5	2822	5	FAM120C	23	54209078	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	565130	54209078	101061482	1853	128785											
USP51	158880	broad.mit.edu	37	chrX	55514297	55514297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagccctctcaggcctacaGtatagactgacttttttctt	6	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:55514297G>A	uc004dun.1	-	2	1155	c.1076C>T	c.(1075-1077)ACT>ATT	p.T359I	USP51_uc011moo.1_Missense_Mutation_p.T63I	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	359					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CAGGCCTACAGTATAGACTGA	0.403													A	55514297	G	A	55514297	3	1	257	1	0	0	0	0	1	0	0	0	17080	1029	36	4	1063	4	USP51	23	55514297	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1305219	55514297	99756263	1854	128786											
FAM123B	139285	broad.mit.edu	37	chrX	63412443	63412443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagaaggttctggtgTtggagaaacttttggcccag	16	5	1	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:63412443T>A	uc004dvo.2	-	2	997	c.724A>T	c.(724-726)ACA>TCA	p.T242S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	242					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGTTCTGGTGTTGGAGAAACT	0.542													A	63412443	T	A	63412443	3	1	257	1	0	0	0	0	1	0	0	0	5423	1725	60	5	2687	5	FAM123B	23	63412443	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	7898146	63412443	91858117	1855	128787											
PJA1	64219	broad.mit.edu	37	chrX	68382056	68382056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtcggccatggtgcgTcgtcgtctcggcaccttttc	13	13	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:68382056T>C	uc004dxh.2	-	2	1312	c.1026A>G	c.(1024-1026)CGA>CGG	p.R342R	PJA1_uc011mpi.1_Silent_p.R60R|PJA1_uc004dxg.2_Silent_p.R154R|PJA1_uc004dxi.2_Silent_p.R287R	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	342	Poly-Arg.						zinc ion binding				0						CCATGGTGCGTCGTCGTCTCG	0.532													C	68382056	T	C	68382056	2	2	257	1	0	0	0	0	0	0	0	1	11961	1654	58	3		3	PJA1	23	68382056	Silent	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4969613	68382056	86888504	1856	128788											
TAF1	6872	broad.mit.edu	37	chrX	70604865	70604865	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttactgccatacatctccttTcctgggttctctccatcctg	5	15	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:70604865T>A	uc004dzu.3	+	14	2240	c.2189T>A	c.(2188-2190)TTC>TAC	p.F730Y	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.F751Y	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	730					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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ACATCTCCTTTCCTGGGTTCT	0.413													A	70604865	T	A	70604865	3	1	257	1	0	0	0	0	1	0	0	0	15510	1783	62	5	2306	5	TAF1	23	70604865	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	2222809	70604865	84665695	1857	128789											
TAF1	6872	broad.mit.edu	37	chrX	70608209	70608209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaagaggctaaagctctgCgctgacttcaaacgcacagg	12	11	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:70608209C>T	uc004dzu.3	+	16	2598	c.2547C>T	c.(2545-2547)TGC>TGT	p.C849C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.C870C|TAF1_uc004dzv.3_Silent_p.C23C	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	849					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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				TAAAGCTCTGCGCTGACTTCA	0.418													T	70608209	C	T	70608209	2	4	257	1	0	0	0	0	0	0	0	1	15510	776	27	1		1	TAF1	23	70608209	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3344	70608209	84662351	1858	128790											
RLIM	51132	broad.mit.edu	37	chrX	73815739	73815739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcttcttctcgatccaatCggtccatctgacttctgcgc	7	14	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:73815739C>T	uc004ebu.2	-	3	364	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	RLIM_uc004ebw.2_Missense_Mutation_p.R25Q	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	25					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			ovary(2)	2						TCGATCCAATCGGTCCATCTG	0.408													T	73815739	C	T	73815739	3	4	257	1	0	0	0	0	1	0	0	0	13390	884	31	1	1812	1	RLIM	23	73815739	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3207530	73815739	81454821	1859	128791											
MAGT1	84061	broad.mit.edu	37	chrX	77131013	77131013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggctttcacaaggcgacGgaacttgtctccattcattc	10	11	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:77131013G>A	uc004fof.2	-	2	342	c.280C>T	c.(280-282)CGT>TGT	p.R94C	MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.R94C	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	62					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						ACAAGGCGACGGAACTTGTCT	0.423													A	77131013	G	A	77131013	3	1	257	1	0	0	0	0	1	0	0	0	9196	1116	39	1	859	1	MAGT1	23	77131013	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	3315274	77131013	78139547	1860	128792											
TBX22	50945	broad.mit.edu	37	chrX	79282759	79282759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctattgaatccatagattaCgaaactaaaaatagaaagaa	5	5	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:79282759C>T	uc010nmg.1	+	7	937	c.803C>T	c.(802-804)ACG>ATG	p.T268M	TBX22_uc004edi.1_Missense_Mutation_p.T148M|TBX22_uc004edj.1_Missense_Mutation_p.T268M	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	268	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						CCATAGATTACGAAACTAAAA	0.343													T	79282759	C	T	79282759	3	4	257	1	0	0	0	0	1	0	0	0	15655	536	19	1	825	1	TBX22	23	79282759	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2151746	79282759	75987801	1861	128793											
POU3F4	5456	broad.mit.edu	37	chrX	82763700	82763700	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcccggcaccgaacccgtCtatcacgtcaagcggccaac	9	18	3	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:82763700C>T	uc004eeg.2	+	1	432	c.368C>T	c.(367-369)TCT>TTT	p.S123F		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	123					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGAACCCGTCTATCACGTCA	0.662													T	82763700	C	T	82763700	3	4	257	1	0	0	0	0	1	0	0	0	12277	913	32	4	370	4	POU3F4	23	82763700	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	3480941	82763700	72506860	1862	128794											
KLHL4	56062	broad.mit.edu	37	chrX	86880677	86880677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagaagctcctgatggAagctatgaagtatcatcttt	10	7	3	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:86880677A>G	uc004efb.2	+	6	1387	c.1205A>G	c.(1204-1206)GAA>GGA	p.E402G	KLHL4_uc004efa.2_Missense_Mutation_p.E402G	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	402						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CTCCTGATGGAAGCTATGAAG	0.433													G	86880677	A	G	86880677	3	3	257	1	0	0	0	0	1	0	0	0	8391	246	9	3	1227	3	KLHL4	23	86880677	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	4116977	86880677	68389883	1863	128795											
GLA	2717	broad.mit.edu	37	chrX	100662741	100662741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtcaaggttgcacaTgaagcgctcccagtgcagcc	12	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:100662741T>C	uc004ehl.1	-	1	261	c.151A>G	c.(151-153)ATG>GTG	p.M51V	HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.M51V	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	51					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				0					Agalsidase beta(DB00103)	AGGTTGCACATGAAGCGCTCC	0.547													C	100662741	T	C	100662741	3	2	257	1	0	0	0	0	1	0	0	0	6426	1464	51	3	1166	3	GLA	23	100662741	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	13782064	100662741	54607819	1864	128796											
HNRNPH2	3188	broad.mit.edu	37	chrX	100668112	100668112	+	Frame_Shift_Del	DEL	T	T	-													cgatcacagctatgtagaacTttttttgaattctacagcag							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:100668111_100668111CT>C	uc022cai.1	+	0	1135	c.1135_1135CT>C	c.(1135-1137)cttfs	p.L379fs	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Frame_Shift_Del_p.L379fs|HNRNPH2_uc004ehn.3_Frame_Shift_Del_p.L379fs	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	379	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CTATGTAGAACTTTTTTTGAA	0.458													-	100668112	T	-	100668112	7	5	257	1	0	1	0	1	0	0	0	0	7267	1609	56	0	1138	0	HNRNPH2	23	100668112	Frame_Shift_Del	DEL	T	TCGA-HU-8602-01A-11D-2394-08	5371	100668112	54602448	1865	128797											
ZMAT1	84460	broad.mit.edu	37	chrX	101139736	101139747	+	In_Frame_Del	DEL	TTGGTAAGAGTC	TTGGTAAGAGTC	-													atgtaatctgcacactcattTtggtaagagtcttgtgtctt							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:101139735_101139746TTTGGTAAGAGTC>T	uc011mrl.2	-	6	1003_1014	c.653_664GACTCTTACCAAA>A	c.(652-666)gactcttaccaaaat>gAat	p.218_222DSYQN>E	ZMAT1_uc004eim.3_In_Frame_Del_p.47_51DSYQN>E|ZMAT1_uc004ein.3_In_Frame_Del_p.47_51DSYQN>E|ZMAT1_uc011mrm.2_In_Frame_Del_p.47_51DSYQN>E	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	47						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GCACACTCATTTTGGTAAGAGTCTTGTGTCTT	0.344													-	101139747	TTGGTAAGAGTC	-	101139736	7	5	257	1	0	1	0	1	0	0	0	0	17688	1838	64	0	1257	0	ZMAT1	23	101139736	In_Frame_Del	DEL	TTGGTAAGAGTC	TCGA-HU-8602-01A-11D-2394-08	471624	101139736	54130824	1866	128798											
GPRASP1	9737	broad.mit.edu	37	chrX	101912652	101912653	+	Frame_Shift_Del	DEL	CA	CA	-													tcactactactactgactatCacacactggttgccaattat							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:101912651_101912652TCA>T	uc010nod.3	+	2	4452_4453	c.3810_3811TCA>T	c.(3808-3813)tatcacfs	p.Y1270fs	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc004ejj.4_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc004eji.4_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc022cbd.1_Frame_Shift_Del_p.Y1270fs	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1270	OPRD1-binding.					cytoplasm	protein binding	p.Y1270*(2)		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						CTACTGACTATCACACACTGGT	0.406													-	101912653	CA	-	101912652	7	5	257	1	0	1	0	1	0	0	0	0	6722	826	29	0	3813	0	GPRASP1	23	101912652	Frame_Shift_Del	DEL	CA	TCGA-HU-8602-01A-11D-2394-08	772916	101912652	53357908	1867	128799											
PLP1	5354	broad.mit.edu	37	chrX	103045491	103045491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacttacaactttgccGtccttaaactcatgggccga	7	14	1	0	rs137966879		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:103045491G>A	uc010nov.2	+	8	1079	c.799G>A	c.(799-801)GTC>ATC	p.V267I	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.V267I|PLP1_uc004elj.2_Missense_Mutation_p.V232I|PLP1_uc011msf.1_Missense_Mutation_p.V212I|PLP1_uc010nox.2_Missense_Mutation_p.V221I	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	267	Cytoplasmic (Probable).				cell death|synaptic transmission	integral to membrane				ovary(1)	1						CAACTTTGCCGTCCTTAAACT	0.488													A	103045491	G	A	103045491	3	1	257	1	0	0	0	0	1	0	0	0	12104	1145	40	1	825	1	PLP1	23	103045491	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1132839	103045491	52225069	1868	128800											
COL4A5	1287	broad.mit.edu	37	chrX	107827718	107827718	+	Frame_Shift_Del	DEL	A	A	-													caattgcattgaacagggccAaaaaggtgacactggcccac							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:107827717_107827717CA>C	uc022ccg.1	+	17	1196	c.994_994CA>C	c.(994-996)caafs	p.Q332fs	COL4A5_uc004enz.1_Frame_Shift_Del_p.Q332fs|COL4A5_uc004eob.1_5'UTR	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	332	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q332H(1)|p.G331V(1)		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						TGAACAGGGCCAAAAAGGTGA	0.333									Alport syndrome with Diffuse Leiomyomatosis				-	107827718	A	-	107827718	7	5	257	1	0	1	0	1	0	0	0	0	3694	130	5	0	1065	0	COL4A5	23	107827718	Frame_Shift_Del	DEL	A	TCGA-HU-8602-01A-11D-2394-08	4782227	107827718	47442842	1869	128801											
COL4A5	1287	broad.mit.edu	37	chrX	107938087	107938087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgcagttcacagtcagaCgatccagattccccattgtc	8	13	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:107938087C>T	uc004enz.1	+	50	4959	c.4757C>T	c.(4756-4758)ACG>ATG	p.T1586M	COL4A5_uc011mso.1_Missense_Mutation_p.T1583M|COL4A5_uc011msp.1_Missense_Mutation_p.T262M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1580	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CACAGTCAGACGATCCAGATT	0.448									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107938087	C	T	107938087	3	4	257	1	0	0	0	0	1	0	0	0	3694	536	19	1	4944	1	COL4A5	23	107938087	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	110369	107938087	47332473	1870	128802											
IRS4	8471	broad.mit.edu	37	chrX	107976681	107976681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggatttggaaatggcactCcaaactcaacattcacataa	6	10	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:107976681C>G	uc004eoc.2	-	1	2927	c.2894G>C	c.(2893-2895)GGA>GCA	p.G965A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	965						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						AAATGGCACTCCAAACTCAAC	0.468													G	107976681	C	G	107976681	3	3	257	1	0	0	0	0	1	0	0	0	7842	855	30	5	883	5	IRS4	23	107976681	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	38594	107976681	47293879	1871	128803											
ACSL4	2182	broad.mit.edu	37	chrX	108906627	108906627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtcattaattgtataAccgcctggaaatcataaaag	8	7	2	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:108906627A>G	uc004eoi.2	-	14	2023	c.1518T>C	c.(1516-1518)GGT>GGC	p.G506G	ACSL4_uc004eoj.2_Silent_p.G465G|ACSL4_uc004eok.2_Silent_p.G465G|ACSL4_uc010npp.1_Silent_p.G506G	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	506	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	TAATTGTATAACCGCCTGGAA	0.323													G	108906627	A	G	108906627	2	3	257	1	0	0	0	0	0	0	0	1	179	30	2	3		3	ACSL4	23	108906627	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	929946	108906627	46363933	1872	128804											
RGAG1	57529	broad.mit.edu	37	chrX	109694182	109694182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcagactctggggcaCtgtccccattgctaatgcca	9	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:109694182C>T	uc004eor.1	+	3	583	c.337C>T	c.(337-339)CTG>TTG	p.L113L	RGAG1_uc011msr.1_Silent_p.L113L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	113										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CTCTGGGGCACTGTCCCCATT	0.537													T	109694182	C	T	109694182	2	4	257	1	0	0	0	0	0	0	0	1	13274	564	20	4		4	RGAG1	23	109694182	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	787555	109694182	45576378	1873	128805											
CHRDL1	91851	broad.mit.edu	37	chrX	109924728	109924728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctttcgaatagtccaaaCgtggacctctacctgaggtg	9	12	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:109924728C>T	uc004eou.3	-	10	1487	c.1138G>A	c.(1138-1140)GTT>ATT	p.V380I	CHRDL1_uc004eov.2_Missense_Mutation_p.V369I|CHRDL1_uc004eow.2_Missense_Mutation_p.V378I|CHRDL1_uc010nps.2_Missense_Mutation_p.V379I|CHRDL1_uc004eot.2_Missense_Mutation_p.V299I|CHRDL1_uc011mss.1_Missense_Mutation_p.V294I	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						ATAGTCCAAACGTGGACCTCT	0.443													T	109924728	C	T	109924728	3	4	257	1	0	0	0	0	1	0	0	0	3373	536	19	1	250	1	CHRDL1	23	109924728	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	230546	109924728	45345832	1874	128806											
ALG13	79868	broad.mit.edu	37	chrX	110925365	110925365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttcctctttcagaaaatCgagagccttggttacaaccg	8	10	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:110925365C>T	uc011msy.1	+	2	121	c.87C>T	c.(85-87)ATC>ATT	p.I29I	ALG13_uc004epi.1_Silent_p.I29I|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_5'UTR			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	29					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TTCAGAAAATCGAGAGCCTTG	0.438													T	110925365	C	T	110925365	2	4	257	1	0	0	0	0	0	0	0	1	515	874	31	1		1	ALG13	23	110925365	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1000637	110925365	44345195	1875	128807											
AMOT	154796	broad.mit.edu	37	chrX	112024224	112024224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcattggaaatggacatcAgagacttcgctggccgcatg	12	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:112024224A>G	uc004epr.2	-	9	2363	c.2363T>C	c.(2362-2364)CTG>CCG	p.L788P	AMOT_uc004eps.2_Missense_Mutation_p.L379P|AMOT_uc011mtc.1_Missense_Mutation_p.L28P|hsa-mir-4329|MI0015901_5'Flank	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	788					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|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						AATGGACATCAGAGACTTCGC	0.542													G	112024224	A	G	112024224	3	3	257	1	0	0	0	0	1	0	0	0	582	188	7	3	903	3	AMOT	23	112024224	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	1098859	112024224	43246336	1876	128808											
WDR44	54521	broad.mit.edu	37	chrX	117512387	117512387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttatttctgaacaggtctcCaggaaaagttgggctttcaa	9	7	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:117512387C>A	uc004eqn.2	+	2	508	c.83C>A	c.(82-84)CCA>CAA	p.P28Q	WDR44_uc004eqo.2_Missense_Mutation_p.P28Q|WDR44_uc011mtr.1_Missense_Mutation_p.P28Q	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	28	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						AACAGGTCTCCAGGAAAAGTT	0.318													A	117512387	C	A	117512387	3	1	257	1	0	0	0	0	1	0	0	0	17293	594	21	5	89	5	WDR44	23	117512387	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	5488163	117512387	37758173	1877	128809											
LONRF3	79836	broad.mit.edu	37	chrX	118147118	118147118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctccatcagagccagcGggatggctacaacacagccg	13	13	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:118147118G>A	uc004eqw.2	+	9	1959	c.1928G>A	c.(1927-1929)CGG>CAG	p.R643Q	LONRF3_uc004eqx.2_Missense_Mutation_p.R602Q|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.R387Q	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	643	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						CAGAGCCAGCGGGATGGCTAC	0.498													A	118147118	G	A	118147118	3	1	257	1	0	0	0	0	1	0	0	0	8896	1116	39	1	1962	1	LONRF3	23	118147118	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	634731	118147118	37123442	1878	128810											
NKRF	55922	broad.mit.edu	37	chrX	118724535	118724535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtatgcttgaatttccGccggacaactctaacttcaa	6	10	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:118724535G>A	uc004erq.2	-	2	1506	c.853C>T	c.(853-855)CGG>TGG	p.R285W	NKRF_uc004err.2_Missense_Mutation_p.R285W	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	285	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						TTGAATTTCCGCCGGACAACT	0.483													A	118724535	G	A	118724535	3	1	257	1	0	0	0	0	1	0	0	0	10447	1086	38	1	1223	1	NKRF	23	118724535	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	577417	118724535	36546025	1879	128811											
ZBTB33	10009	broad.mit.edu	37	chrX	119389084	119389084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctttccgatagatcaaGcactattcctgcaatgaagg	7	9	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:119389084G>A	uc004esn.1	+	2	2042	c.1814G>A	c.(1813-1815)AGC>AAC	p.S605N	ZBTB33_uc010nqm.1_Missense_Mutation_p.S605N	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	605	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GATAGATCAAGCACTATTCCT	0.413													A	119389084	G	A	119389084	3	1	257	1	0	0	0	0	1	0	0	0	17533	971	34	2	1816	2	ZBTB33	23	119389084	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	664549	119389084	35881476	1880	128812											
ODZ1	10178	broad.mit.edu	37	chrX	123615689	123615689	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaccacttcaaaattcTtggacagatctttcgtctcc	5	14	4	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:123615689T>A	uc004euj.2	-	21	3885	c.3821A>T	c.(3820-3822)AAG>ATG	p.K1274M	ODZ1_uc011muj.1_Missense_Mutation_p.K1280M|ODZ1_uc010nqy.2_Missense_Mutation_p.K1281M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1274	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTCAAAATTCTTGGACAGATC	0.468													A	123615689	T	A	123615689	3	1	257	1	0	0	0	0	1	0	0	0	10834	1609	56	5	4400	5	ODZ1	23	123615689	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	4226605	123615689	31654871	1881	128813											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299723	125299723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccggctgggccccgcGctcctacctcccggcccttc	12	21	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:125299723G>A	uc004euk.1	-	1	212	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	62										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						TGGGCCCCGCGCTCCTACCTC	0.736													A	125299723	G	A	125299723	3	1	257	1	0	0	0	0	1	0	0	0	4265	1087	38	1	1210	1	DCAF12L2	23	125299723	Missense_Mutation	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1684034	125299723	29970837	1882	128814											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685267	125685267	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccccagccacaaagagcTtcatctcaggccagttgtag	9	15	2	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:125685267T>G	uc004eul.2	-	1	1576	c.1325A>C	c.(1324-1326)AAG>ACG	p.K442T		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	442										skin(3)|ovary(1)	4						CACAAAGAGCTTCATCTCAGG	0.542													G	125685267	T	G	125685267	3	3	257	1	0	0	0	0	1	0	0	0	4264	1609	56	5	70	5	DCAF12L1	23	125685267	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	385544	125685267	29585293	1883	128815											
HS6ST2	90161	broad.mit.edu	37	chrX	131762995	131762995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagctgggcagctcttcGgaggttggaggccttccatc	14	11	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:131762995G>A	uc011mve.1	-	4	1490	c.1074C>T	c.(1072-1074)TCC>TCT	p.S358S	HS6ST2_uc011mvb.1_Silent_p.S252S|HS6ST2_uc011mvc.1_Silent_p.S212S|HS6ST2_uc011mvd.1_Silent_p.S398S|HS6ST2_uc011mva.1_Silent_p.S84S	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	358	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCAGCTCTTCGGAGGTTGGAG	0.577													A	131762995	G	A	131762995	2	1	257	1	0	0	0	0	0	0	0	1	7371	1103	39	1		1	HS6ST2	23	131762995	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	6077728	131762995	23507565	1884	128816											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	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)					CACATTCACCTGGGGGGGTGC	0.537													-	135314194	G	-	135314194	7	5	257	1	0	1	0	1	0	0	0	0	9269	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-HU-8602-01A-11D-2394-08	3551199	135314194	19956366	1885	128817											
MAP7D3	79649	broad.mit.edu	37	chrX	135318440	135318440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgttctttatcagtagaCgaatgtaggttactatctct	8	7	3	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:135318440C>T	uc004ezt.2	-	7	790	c.699G>A	c.(697-699)TCG>TCA	p.S233S	MAP7D3_uc004ezs.2_Silent_p.S197S|MAP7D3_uc011mwc.1_Silent_p.S215S|MAP7D3_uc010nsa.1_Silent_p.S232S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	233						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTAGACGAATGTAGGT	0.318													T	135318440	C	T	135318440	2	4	257	1	0	0	0	0	0	0	0	1	9269	523	19	1		1	MAP7D3	23	135318440	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	4246	135318440	19952120	1886	128818											
GPR101	83550	broad.mit.edu	37	chrX	136113787	136113787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggggcatgcacgtgTggctgctgttactctcgcgc	16	10	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:136113787T>C	uc011mwh.1	-	1	47	c.47A>G	c.(46-48)CAC>CGC	p.H16R		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	16	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CATGCACGTGTGGCTGCTGTT	0.627													C	136113787	T	C	136113787	3	2	257	1	0	0	0	0	1	0	0	0	6622	1696	59	3	1482	3	GPR101	23	136113787	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	795347	136113787	19156773	1887	128819											
MCF2	4168	broad.mit.edu	37	chrX	138678734	138678734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtttaaaactgtatgAcgggtatctgtcagagcctt	10	7	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:138678734A>G	uc004fau.2	-	19	2545	c.2251T>C	c.(2251-2253)TCA>CCA	p.S751P	MCF2_uc004fav.2_Missense_Mutation_p.S767P|MCF2_uc011mwl.1_Missense_Mutation_p.S728P|MCF2_uc010nsh.1_Missense_Mutation_p.S751P|MCF2_uc011mwm.1_Missense_Mutation_p.S712P|MCF2_uc011mwn.1_Missense_Mutation_p.S896P|MCF2_uc004faw.2_Missense_Mutation_p.S811P|MCF2_uc011mwo.1_Missense_Mutation_p.S827P	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	751	PH.				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			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AAACTGTATGACGGGTATCTG	0.378													G	138678734	A	G	138678734	3	3	257	1	0	0	0	0	1	0	0	0	9378	275	10	3	582	3	MCF2	23	138678734	Missense_Mutation	SNP	A	TCGA-HU-8602-01A-11D-2394-08	2564947	138678734	16591826	1888	128820											
MAGEC1	9947	broad.mit.edu	37	chrX	140993325	140993325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagttctcctgagagcgaCgacaccctgtatcctctcca	8	15	2	2			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:140993325C>T	uc004fbt.2	+	4	421	c.135C>T	c.(133-135)GAC>GAT	p.D45D	MAGEC1_uc010nsl.1_Translation_Start_Site	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	45							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGAGCGACGACACCCTGT	0.587										HNSCC(15;0.026)			T	140993325	C	T	140993325	2	4	257	1	0	0	0	0	0	0	0	1	9180	535	19	1		1	MAGEC1	23	140993325	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	2314591	140993325	14277235	1889	128821											
AFF2	2334	broad.mit.edu	37	chrX	148037280	148037280	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccaaccaatggaagtcCagatgaaagtgaagacgaat	9	8	1	4			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:148037280C>T	uc004fcp.2	+	11	2184	c.1705C>T	c.(1705-1707)CAG>TAG	p.Q569*	AFF2_uc004fcq.2_Nonsense_Mutation_p.Q559*|AFF2_uc004fcr.2_Nonsense_Mutation_p.Q530*|AFF2_uc011mxb.1_Nonsense_Mutation_p.Q534*|AFF2_uc004fcs.2_Nonsense_Mutation_p.Q536*|AFF2_uc011mxc.1_Nonsense_Mutation_p.Q210*	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	569					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGAAGTCCAGATGAAAGT	0.488													T	148037280	C	T	148037280	4	4	257	1	0	0	0	0	0	1	0	0	357	595	21	4	1802	4	AFF2	23	148037280	Nonsense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	7043955	148037280	7233280	1890	128822											
AFF2	2334	broad.mit.edu	37	chrX	148037653	148037655	+	In_Frame_Del	DEL	AGA	AGA	-													taacatccctttggctcccgAgaagaagaagtacagagggc							TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:148037652_148037654GAGA>G	uc004fcp.3	+	10	2556_2558	c.2077_2079GAGA>G	c.(2077-2079)gag>G	p.E693del	AFF2_uc004fcq.3_In_Frame_Del_p.E683del|AFF2_uc004fcr.3_In_Frame_Del_p.E654del|AFF2_uc011mxb.2_In_Frame_Del_p.E658del|AFF2_uc004fcs.3_In_Frame_Del_p.E660del|AFF2_uc011mxc.2_In_Frame_Del_p.E334del	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	693					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E693*(3)|p.E334*(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGCTCCCGAGAAGAAGAAGT	0.498													-	148037655	AGA	-	148037653	7	5	257	1	0	1	0	1	0	0	0	0	357	304	11	0	2175	0	AFF2	23	148037653	In_Frame_Del	DEL	AGA	TCGA-HU-8602-01A-11D-2394-08	373	148037653	7232907	1891	128823											
MAMLD1	10046	broad.mit.edu	37	chrX	149671788	149671788	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctagctgcgacgccacagGtaagtcacttccccctgagc	10	16	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:149671788G>C	uc004fee.1	+	5	2360	c.2284_splice	c.e5+1	p.A762_splice	MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Splice_Site_p.A737_splice|MAMLD1_uc011mxw.1_Splice_Site_p.A648_splice	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					gacgccacaggtaagtcactt	0.159													C	149671788	G	C	149671788	5	2	257	1	0	0	0	0	0	0	1	0	9208	1275	44	5	2303	5	MAMLD1	23	149671788	Splice_Site	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1634135	149671788	5598772	1892	128824											
CD99L2	83692	broad.mit.edu	37	chrX	149983348	149983348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttacctcttcctcctatAcccggtttcctgcggccatc	6	17	1	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:149983348A>G	uc004fel.2	-	4	382	c.264T>C	c.(262-264)GGT>GGC	p.G88G	CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Silent_p.G88G	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	88	Extracellular (Potential).				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCCTATACCCGGTTTCC	0.473													G	149983348	A	G	149983348	2	3	257	1	0	0	0	0	0	0	0	1	3051	378	14	3		3	CD99L2	23	149983348	Silent	SNP	A	TCGA-HU-8602-01A-11D-2394-08	311560	149983348	5287212	1893	128825											
MAGEA6	4105	broad.mit.edu	37	chrX	151870140	151870140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgtggggtccaagggCcctcattgaaaccagctatg	12	11	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:151870140C>T	uc004ffq.1	+	3	1024	c.830C>T	c.(829-831)GCC>GTC	p.A277V	MAGEA6_uc004ffr.1_Missense_Mutation_p.A277V|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	277	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCAAGGGCCCTCATTGAA	0.527													T	151870140	C	T	151870140	3	4	257	1	0	0	0	0	1	0	0	0	9170	739	26	2	832	2	MAGEA6	23	151870140	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	1886792	151870140	3400420	1894	128826											
PDZD4	57595	broad.mit.edu	37	chrX	153070218	153070218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtggagctcgggggttcGtcccccagcaggtcgtgctc	16	12	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:153070218G>A	uc004fiz.1	-	8	1150	c.900C>T	c.(898-900)GAC>GAT	p.D300D	PDZD4_uc004fiy.1_Silent_p.D225D|PDZD4_uc004fix.2_Silent_p.D204D|PDZD4_uc004fja.1_Silent_p.D306D|PDZD4_uc011mze.1_Silent_p.D191D	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	300						cell cortex				breast(1)	1	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)					TCGGGGGTTCGTCCCCCAGCA	0.662													A	153070218	G	A	153070218	2	1	257	1	0	0	0	0	0	0	0	1	11703	1136	40	1		1	PDZD4	23	153070218	Silent	SNP	G	TCGA-HU-8602-01A-11D-2394-08	1200078	153070218	2200342	1895	128827											
L1CAM	3897	broad.mit.edu	37	chrX	153137620	153137620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcaccctcggccatgagCcggatctcatgggacatggc	12	15	1	1			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:153137620C>T	uc004fjb.2	-	4	495	c.387G>A	c.(385-387)CGG>CGA	p.R129R	L1CAM_uc004fjc.2_Silent_p.R129R|L1CAM_uc010nuo.2_Silent_p.R124R|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.R124R	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	129	Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					CGGCCATGAGCCGGATCTCAT	0.617													T	153137620	C	T	153137620	2	4	257	1	0	0	0	0	0	0	0	1	8588	726	26	2		2	L1CAM	23	153137620	Silent	SNP	C	TCGA-HU-8602-01A-11D-2394-08	67402	153137620	2132940	1896	128828											
RPL10	6134	broad.mit.edu	37	chrX	153628830	153628830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcatgcgaggtgccTttggaaagccccagggcact	13	11	0	0			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:153628830T>C	uc004fkm.2	+	6	543	c.355T>C	c.(355-357)TTT>CTT	p.F119L	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.F119L|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.F44L	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	119					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	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)					GCGAGGTGCCTTTGGAAAGCC	0.537													C	153628830	T	C	153628830	3	2	257	1	0	0	0	0	1	0	0	0	13554	1609	56	3	373	3	RPL10	23	153628830	Missense_Mutation	SNP	T	TCGA-HU-8602-01A-11D-2394-08	491210	153628830	1641730	1897	128829											
CLIC2	1193	broad.mit.edu	37	chrX	154507295	154507295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggcattgtggagataaCgccagactcctgagaattct	10	9	1	3			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:154507295C>T	uc004fnf.2	-	6	891	c.641G>A	c.(640-642)CGT>CAT	p.R214H		NM_001289	NP_001280	O15247	CLIC2_HUMAN	chloride intracellular channel 2	214	GST C-terminal.|C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			large_intestine(1)|ovary(1)|skin(1)	3	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)					GTGGAGATAACGCCAGACTCC	0.403													T	154507295	C	T	154507295	3	4	257	1	0	0	0	0	1	0	0	0	3526	536	19	1	106	1	CLIC2	23	154507295	Missense_Mutation	SNP	C	TCGA-HU-8602-01A-11D-2394-08	878465	154507295	763265	1898	128830											
HSPG2	3339	broad.mit.edu	37	chr1	22165524	22165524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcactggagctgcaccGtctcccctgcctgcaccgaa	10	18	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:22165524G>A	uc001bfj.2	-	74	9984	c.9944C>T	c.(9943-9945)ACG>ATG	p.T3315M	HSPG2_uc009vqd.2_Missense_Mutation_p.T3316M	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3315	Ig-like C2-type 19.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	GAGCTGCACCGTCTCCCCTGC	0.672													A	22165524	G	A	22165524	3	1	258	1	0	0	0	0	1	0	0	0	7430	1145	40	1	3327	1	HSPG2	1	22165524	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		22165524	227085097	1	128831											
EIF3I	8668	broad.mit.edu	37	chr1	32689716	32689716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtgtggtgtgtggacGctgactgtatccttattttg	14	6	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:32689716G>A	uc001bur.3	+	4	711	c.178G>A	c.(178-180)GCT>ACT	p.A60T	C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.A60T|EIF3I_uc001bus.2_Missense_Mutation_p.A12T	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	60	WD 2.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GTGTGTGGACGCTGACTGTAT	0.537													A	32689716	G	A	32689716	3	1	258	1	0	0	0	0	1	0	0	0	5019	1087	38	1	188	1	EIF3I	1	32689716	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	10524192	32689716	216560905	2	128832											
CSMD2	114784	broad.mit.edu	37	chr1	34158580	34158580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagatgcagttgagattGtgttcatagggagctggata	14	5	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:34158580G>T	uc001bxn.1	-	25	3911	c.3882C>A	c.(3880-3882)CAC>CAA	p.H1294Q	CSMD2_uc001bxm.1_Missense_Mutation_p.H1334Q|CSMD2_uc001bxo.1_Missense_Mutation_p.H207Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1294	CUB 8.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTTGAGATTGTGTTCATAGG	0.552													T	34158580	G	T	34158580	3	4	258	1	0	0	0	0	1	0	0	0	3945	1368	48	5	6761	5	CSMD2	1	34158580	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	1468864	34158580	215092041	3	128833											
PDE4B	5142	broad.mit.edu	37	chr1	66827323	66827323	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgatgtggagatcccAtctcctacccagaaagacag	9	11	1	5			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:66827323A>C	uc001dcn.2	+	10	1058	c.867A>C	c.(865-867)CCA>CCC	p.P289P	PDE4B_uc009war.2_Silent_p.P197P|PDE4B_uc001dco.2_Silent_p.P289P|PDE4B_uc001dcp.2_Silent_p.P274P|PDE4B_uc001dcq.2_Silent_p.P117P|PDE4B_uc009was.2_Silent_p.P56P	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	289					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGAGATCCCATCTCCTACCC	0.393													C	66827323	A	C	66827323	2	2	258	1	0	0	0	0	0	0	0	1	11640	204	8	5		5	PDE4B	1	66827323	Silent	SNP	A	TCGA-HU-8604-01A-11D-2394-08	32668743	66827323	182423298	4	128834											
LRRC7	57554	broad.mit.edu	37	chr1	70488966	70488966	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccacagctggcatggggttGtataagtggcctccagcagg	14	11	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:70488966G>C	uc001dep.2	+	15	1619	c.1589G>C	c.(1588-1590)TGT>TCT	p.C530S	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	530						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GCATGGGGTTGTATAAGTGGC	0.557													C	70488966	G	C	70488966	3	2	258	1	0	0	0	0	1	0	0	0	9020	1377	48	5	1647	5	LRRC7	1	70488966	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	3661643	70488966	178761655	5	128835											
IFI44L	10964	broad.mit.edu	37	chr1	79093853	79093853	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaaatgattccctatggTtttcacttcaaaagaaaaat	5	8	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:79093853T>C	uc010oro.1	+	2	432	c.253T>C	c.(253-255)TTT>CTT	p.F85L	IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	85						cytoplasm					0						TTCCCTATGGTTTTCACTTCA	0.313													C	79093853	T	C	79093853	3	2	258	1	0	0	0	0	1	0	0	0	7518	1725	60	3	255	3	IFI44L	1	79093853	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	8604887	79093853	170156768	6	128836											
BARHL2	343472	broad.mit.edu	37	chr1	91180275	91180275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacagggggactctcacGgctactcgtaatctcccggt	10	14	3	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:91180275G>A	uc001dns.2	-	2	706	c.664C>T	c.(664-666)CGT>TGT	p.R222C		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	222						nucleus	sequence-specific DNA binding			ovary(1)	1		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)		GGACTCTCACGGCTACTCGTA	0.542													A	91180275	G	A	91180275	3	1	258	1	0	0	0	0	1	0	0	0	1314	1116	39	1	507	1	BARHL2	1	91180275	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	12086422	91180275	158070346	7	128837											
GFI1	2672	broad.mit.edu	37	chr1	92946367	92946367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccctaggccagggccagCggtggcaccggcccctgcgc	16	17	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:92946367C>T	uc001dou.3	-	4	741	c.577G>A	c.(577-579)GCT>ACT	p.A193T	GFI1_uc001dov.3_Missense_Mutation_p.A193T|GFI1_uc001dow.3_Missense_Mutation_p.A193T	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	193	Ala/Gly-rich.				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			large_intestine(1)	1		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)		CCAGGGCCAGCGGTGGCACCG	0.652													T	92946367	C	T	92946367	3	4	258	1	0	0	0	0	1	0	0	0	6339	768	27	1	707	1	GFI1	1	92946367	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	1766092	92946367	156304254	8	128838											
AMY2B	280	broad.mit.edu	37	chr1	104122108	104122108	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catttattgcaattcatgctGaatctaaattataaaattta	3	5	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:104122108G>A	uc001duq.2	+	12	2138	c.1522G>A	c.(1522-1524)GAA>AAA	p.E508K	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.E508K|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	508					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		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)		AATTCATGCTGAATCtaaatt	0.294													A	104122108	G	A	104122108	3	1	258	1	0	0	0	0	1	0	0	0	595	1291	45	4	1560	4	AMY2B	1	104122108	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	11175741	104122108	145128513	9	128839											
CA14	23632	broad.mit.edu	37	chr1	150230572	150230572	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatttggatcctggctgcaGatgggggtaggtacaactaa	14	6	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:150230572G>A	uc001etx.2	+	1	358	c.49G>A	c.(49-51)GAT>AAT	p.D17N	CA14_uc009wln.2_Missense_Mutation_p.D17N	NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	17	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	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)			CCTGGCTGCAGATGGGGGTAG	0.532													A	150230572	G	A	150230572	3	1	258	1	0	0	0	0	1	0	0	0	2515	942	33	4	51	4	CA14	1	150230572	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	46108464	150230572	99020049	10	128840											
FLG	2312	broad.mit.edu	37	chr1	152277297	152277297	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgtccatggcctgaCactgactgtgtgtctgactc	10	14	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:152277297C>A	uc001ezu.1	-	3	10101	c.10065G>T	c.(10063-10065)GTG>GTT	p.V3355V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3355	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGCCTGACACTGACTGTG	0.572									Ichthyosis				A	152277297	C	A	152277297	2	1	258	1	0	0	0	0	0	0	0	1	5922	465	17	5		5	FLG	1	152277297	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	2046725	152277297	96973324	11	128841											
OR6K3	391114	broad.mit.edu	37	chr1	158687131	158687131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagtgtcgctgaaacgcaAgtacatgagtgatacactgc	10	8	0	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:158687131A>C	uc010pip.1	-	1	823	c.823T>G	c.(823-825)TTG>GTG	p.L275V		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CTGAAACGCAAGTACATGAGT	0.463													C	158687131	A	C	158687131	3	2	258	1	0	0	0	0	1	0	0	0	11203	69	3	5	174	5	OR6K3	1	158687131	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	6409834	158687131	90563490	12	128842											
FCER1A	2205	broad.mit.edu	37	chr1	159272174	159272174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggctcctgccatggaatCccctactctactgtgtgtag	10	12	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:159272174C>T	uc001ftq.2	+	2	119	c.20C>T	c.(19-21)TCC>TTC	p.S7F		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	7						integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GCCATGGAATCCCCTACTCTA	0.483													T	159272174	C	T	159272174	3	4	258	1	0	0	0	0	1	0	0	0	5774	855	30	4	22	4	FCER1A	1	159272174	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	585043	159272174	89978447	13	128843											
C1orf129	80133	broad.mit.edu	37	chr1	170965696	170965696	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattgttctggactgcaAcaggtggatattactctaat	9	7	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:170965696A>C	uc001ghg.2	+	14	1516	c.1386A>C	c.(1384-1386)CAA>CAC	p.Q462H	C1orf129_uc009wvy.2_Missense_Mutation_p.Q269H|C1orf129_uc010plz.1_Missense_Mutation_p.Q462H	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	462							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGGACTGCAACAGGTGGATA	0.423													C	170965696	A	C	170965696	3	2	258	1	0	0	0	0	1	0	0	0	1996	40	2	5	1436	5	C1orf129	1	170965696	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	11693522	170965696	78284925	14	128844											
DNM3	26052	broad.mit.edu	37	chr1	171810859	171810859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgcaggacgcgttttcGgcgctgggacagagctgcct	15	12	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:171810859G>A	uc001gie.2	+	1	239	c.63G>A	c.(61-63)TCG>TCA	p.S21S	DNM3_uc001gid.3_Silent_p.S21S|DNM3_uc009wwb.2_Silent_p.S21S|DNM3_uc001gif.2_Silent_p.S21S	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	21					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						ACGCGTTTTCGGCGCTGGGAC	0.687													A	171810859	G	A	171810859	2	1	258	1	0	0	0	0	0	0	0	1	4673	1103	39	1		1	DNM3	1	171810859	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	845163	171810859	77439762	15	128845											
CFH	3075	broad.mit.edu	37	chr1	196716354	196716354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgaatttgtgtgtaaaCggggatatcgtctttcatca	10	6	3	1	rs145347741	byFrequency	TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:196716354C>T	uc001gtj.3	+	22	3847	c.3607C>T	c.(3607-3609)CGG>TGG	p.R1203W		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1203	Sushi 20.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGTGTGTAAACGGGGATATCG	0.383													T	196716354	C	T	196716354	3	4	258	1	0	0	0	0	1	0	0	0	3283	527	19	1	3711	1	CFH	1	196716354	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	24905495	196716354	52534267	16	128846											
WNT3A	89780	broad.mit.edu	37	chr1	228246694	228246694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgccccgcaggccatcgCcagccacatgcacctcaagt	10	18	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:228246694C>T	uc001hrq.1	+	4	665	c.587C>T	c.(586-588)GCC>GTC	p.A196V	WNT3A_uc001hrp.1_Missense_Mutation_p.A196V	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	196					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				CAGGCCATCGCCAGCCACATG	0.667													T	228246694	C	T	228246694	3	4	258	1	0	0	0	0	1	0	0	0	17386	739	26	2	601	2	WNT3A	1	228246694	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	31530340	228246694	21003927	17	128847											
OR2W5	441932	broad.mit.edu	37	chr1	247654765	247654765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgggctccaccgagtgCgtcctcctggttgtcatgtc	12	13	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:247654765C>T	uc001icz.1	+	1	336	c.336C>T	c.(334-336)TGC>TGT	p.C112C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	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)			CCACCGAGTGCGTCCTCCTGG	0.602													T	247654765	C	T	247654765	2	4	258	1	0	0	0	0	0	0	0	1	11034	776	27	1		1	OR2W5	1	247654765	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	19408071	247654765	1595856	18	128848											
OR2T12	127064	broad.mit.edu	37	chr1	248458139	248458139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgccagctccataaaagaGtcccaccacagccacatgtg	7	14	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr1:248458139G>T	uc010pzj.1	-	1	742	c.742C>A	c.(742-744)CTC>ATC	p.L248I		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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)			CCATAAAAGAGTCCCACCACA	0.507													T	248458139	G	T	248458139	3	4	258	1	0	0	0	0	1	0	0	0	11019	1029	36	5	223	5	OR2T12	1	248458139	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	803374	248458139	792482	19	128849											
PXDN	7837	broad.mit.edu	37	chr2	1643130	1643130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctcctggtagctgaaCtcaagagaccgtctgcctcg	10	13	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:1643130C>A	uc002qxa.2	-	20	4081	c.4017G>T	c.(4015-4017)GAG>GAT	p.E1339D		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1339					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			pancreas(6)|ovary(2)	8	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)		GGTAGCTGAACTCAAGAGACC	0.507													A	1643130	C	A	1643130	3	1	258	1	0	0	0	0	1	0	0	0	12847	564	20	5	438	5	PXDN	2	1643130	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		1643130	241556243	20	128850											
BIRC6	57448	broad.mit.edu	37	chr2	32707635	32707635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggatcacagacagttagcGtttcagtctctcagggtaag	11	9	4	1	rs144411884		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:32707635G>A	uc010ezu.2	+	39	7815	c.7681G>A	c.(7681-7683)GTT>ATT	p.V2561I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2561					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GACAGTTAGCGTTTCAGTCTC	0.393													A	32707635	G	A	32707635	3	1	258	1	0	0	0	0	1	0	0	0	1438	1145	40	1	7835	1	BIRC6	2	32707635	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	31064505	32707635	210491738	21	128851											
RASGRP3	25780	broad.mit.edu	37	chr2	33752219	33752220	+	Missense_Mutation	DNP	AC	AC	CA													cccagaactggaatgaaatgAcagagttggtctcctccaac							TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:33752219_33752220AC>CA	uc002rox.2	+	11	1450_1451	c.823_824AC>CA	c.(823-825)ACA>CAA	p.T275Q	RASGRP3_uc010ync.1_Missense_Mutation_p.T275Q|RASGRP3_uc002roy.2_Missense_Mutation_p.T275Q	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	275	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			lung(3)|ovary(1)|pancreas(1)	5	all_hematologic(175;0.115)					GAATGAAATGACAGAGTTGGTC	0.485													CA	33752220	AC	CA	33752219	3	2	258	1	0	0	0	0	1	0	0	0	13076	275	10	5	853	5	RASGRP3	2	33752219	Missense_Mutation	DNP	AC	TCGA-HU-8604-01A-11D-2394-08	1044584	33752219	209447154	22	128852											
NRXN1	9378	broad.mit.edu	37	chr2	50780014	50780014	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccatttaggcaaagagatGaaagactctggggtttcaaa	10	6	2	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:50780014G>T	uc010fbq.2	-	9	3067	c.1590C>A	c.(1588-1590)TTC>TTA	p.F530L	NRXN1_uc002rxb.3_Missense_Mutation_p.F162L|NRXN1_uc002rxe.3_Missense_Mutation_p.F490L|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAAAGAGATGAAAGACTCTG	0.418													T	50780014	G	T	50780014	3	4	258	1	0	0	0	0	1	0	0	0	10665	1281	45	5	3376	5	NRXN1	2	50780014	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	17027795	50780014	192419359	23	128853											
CCDC85A	114800	broad.mit.edu	37	chr2	56570051	56570051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaggcagctggaggcaagAgtaagacagctggaggaaga	17	5	0	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:56570051A>G	uc002rzn.2	+	3	1780	c.1278A>G	c.(1276-1278)AGA>AGG	p.R426R		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	426	Potential.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGAGGCAAGAGTAAGACAGC	0.418													G	56570051	A	G	56570051	2	3	258	1	0	0	0	0	0	0	0	1	2859	301	11	3		3	CCDC85A	2	56570051	Silent	SNP	A	TCGA-HU-8604-01A-11D-2394-08	5790037	56570051	186629322	24	128854											
EIF2AK3	9451	broad.mit.edu	37	chr2	88890523	88890523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatccggctctcgtttccAtgtctggaatataccgaagt	8	10	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:88890523A>G	uc002stc.3	-	5	1017	c.815T>C	c.(814-816)ATG>ACG	p.M272T		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	272	Lumenal (Potential).				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						TCTCGTTTCCATGTCTGGAAT	0.368													G	88890523	A	G	88890523	3	3	258	1	0	0	0	0	1	0	0	0	4998	217	8	3	2587	3	EIF2AK3	2	88890523	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	32320472	88890523	154308850	25	128855											
MGAT4A	11320	broad.mit.edu	37	chr2	99260500	99260500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatcagagtaagatccggCgcttgaaacattttacctga	8	9	1	4			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:99260500C>T	uc002sze.2	-	10	1220	c.906G>A	c.(904-906)GCG>GCA	p.A302A	C2orf64_uc002sza.2_RNA|MGAT4A_uc010yvm.1_Silent_p.A174A|MGAT4A_uc010fil.2_Silent_p.A56A	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	302	Lumenal (Potential).				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			skin(1)	1						TAAGATCCGGCGCTTGAAACA	0.408													T	99260500	C	T	99260500	2	4	258	1	0	0	0	0	0	0	0	1	9545	755	27	1		1	MGAT4A	2	99260500	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	10369977	99260500	143938873	26	128856											
LRP1B	53353	broad.mit.edu	37	chr2	140990805	140990805	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tattttctttggaagcagttCtttcctttcatcaacacttc	4	10	4	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:140990805C>A	uc002tvj.1	-	91	14722	c.13750G>T	c.(13750-13752)GAA>TAA	p.E4584*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4584	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GGAAGCAGTTCTTTCCTTTCA	0.333										TSP Lung(27;0.18)			A	140990805	C	A	140990805	4	1	258	1	0	0	0	0	0	1	0	0	8955	922	32	5	53	5	LRP1B	2	140990805	Nonsense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	41730305	140990805	102208568	27	128857											
LRP1B	53353	broad.mit.edu	37	chr2	141215210	141215210	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcacccctggaatatcTtgattagggactgtaatagg	10	8	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:141215210T>G	uc002tvj.1	-	61	10608	c.9636A>C	c.(9634-9636)CAA>CAC	p.Q3212H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3212	Extracellular (Potential).|LDL-receptor class B 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CTGGAATATCTTGATTAGGGA	0.418										TSP Lung(27;0.18)			G	141215210	T	G	141215210	3	3	258	1	0	0	0	0	1	0	0	0	8955	1606	56	5	4287	5	LRP1B	2	141215210	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	224405	141215210	101984163	28	128858											
LRP1B	53353	broad.mit.edu	37	chr2	141751631	141751631	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacatttccaccgagcTtggatacagtgtctgttttt	7	11	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:141751631T>G	uc002tvj.1	-	16	3549	c.2577A>C	c.(2575-2577)CAA>CAC	p.Q859H	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	859	Extracellular (Potential).|LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TCCACCGAGCTTGGATACAGT	0.423										TSP Lung(27;0.18)			G	141751631	T	G	141751631	3	3	258	1	0	0	0	0	1	0	0	0	8955	1606	56	5	11526	5	LRP1B	2	141751631	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	536421	141751631	101447742	29	128859											
LRP2	4036	broad.mit.edu	37	chr2	170063434	170063434	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgaatcacttcagagttctCtccattgatacgaatccttg	6	11	3	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:170063434C>A	uc002ues.2	-	39	7009	c.6796G>T	c.(6796-6798)GAG>TAG	p.E2266*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2266	LDL-receptor class B 23.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	TCAGAGTTCTCTCCATTGATA	0.403													A	170063434	C	A	170063434	4	1	258	1	0	0	0	0	0	1	0	0	8956	922	32	5	7335	5	LRP2	2	170063434	Nonsense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	28311803	170063434	73135939	30	128860											
TTN	7273	broad.mit.edu	37	chr2	179439346	179439346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcattgaatccttggtaActgcagttacctgaggggta	11	7	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:179439346A>C	uc010zfg.1	-	275	64033	c.63809T>G	c.(63808-63810)GTT>GGT	p.V21270G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V14965G|TTN_uc010zfi.1_Missense_Mutation_p.V14898G|TTN_uc010zfj.1_Missense_Mutation_p.V14773G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22197							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTTGGTAACTGCAGTTAC	0.433													C	179439346	A	C	179439346	3	2	258	1	0	0	0	0	1	0	0	0	16732	43	2	5	36614	5	TTN	2	179439346	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	9375912	179439346	63760027	31	128861											
TTN	7273	broad.mit.edu	37	chr2	179669304	179669304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgagcctcaaaggttgcGgtactaccctccagtaccac	9	13	1	1	rs143623862		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:179669304G>A	uc002und.2	-	2	291	c.66C>T	c.(64-66)ACC>ACT	p.T22T	TTN_uc010zfg.1_Silent_p.T22T|TTN_uc010zfh.1_Silent_p.T22T|TTN_uc010zfi.1_Silent_p.T22T|TTN_uc010zfj.1_Silent_p.T22T|TTN_uc002unb.2_Silent_p.T22T			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	22							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGGTTGCGGTACTACCCT	0.438													A	179669304	G	A	179669304	2	1	258	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179669304	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	229958	179669304	63530069	32	128862											
ZNF804A	91752	broad.mit.edu	37	chr2	185802547	185802547	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgctccctgcaagccTaaaaagaaacggaggcgaaa	10	10	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:185802547T>G	uc002uph.2	+	4	3018	c.2424T>G	c.(2422-2424)CCT>CCG	p.P808P		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	808						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CCTGCAAGCCTAAAAAGAAAC	0.383													G	185802547	T	G	185802547	2	3	258	1	0	0	0	0	0	0	0	1	18167	1509	53	5		5	ZNF804A	2	185802547	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	6133243	185802547	57396826	33	128863											
SLC11A1	6556	broad.mit.edu	37	chr2	219258851	219258851	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctctccccagctcccgttCgccgtgctgcccatcctcac	7	21	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:219258851C>T	uc002vhv.2	+	13	1663	c.1323C>T	c.(1321-1323)TTC>TTT	p.F441F	SLC11A1_uc010zkc.1_Silent_p.F374F|SLC11A1_uc002vhu.1_Silent_p.F236F|SLC11A1_uc002vhw.2_Silent_p.F323F|SLC11A1_uc010fvr.2_Silent_p.F236F	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	441	Helical; (Potential).			F -> V (in Ref. 5; CAA57541).	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			ovary(3)|central_nervous_system(1)	4		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)		AGCTCCCGTTCGCCGTGCTGC	0.537													T	219258851	C	T	219258851	2	4	258	1	0	0	0	0	0	0	0	1	14380	883	31	1		1	SLC11A1	2	219258851	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	33456304	219258851	23940522	34	128864											
DGKD	8527	broad.mit.edu	37	chr2	234299087	234299087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatctgacagatgccagCgtagctgaatccagtaccaa	11	10	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:234299087C>T	uc002vui.1	+	3	318	c.306C>T	c.(304-306)AGC>AGT	p.S102S	DGKD_uc002vuj.1_Silent_p.S58S	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	102	PH.				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|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		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)	CAGATGCCAGCGTAGCTGAAT	0.423													T	234299087	C	T	234299087	2	4	258	1	0	0	0	0	0	0	0	1	4467	767	27	1		1	DGKD	2	234299087	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	15040236	234299087	8900286	35	128865											
HDLBP	3069	broad.mit.edu	37	chr2	242181952	242181952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccctgataacaacggtgtCgcttcctgaaccttccacgg	9	15	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:242181952C>T	uc002waz.2	-	17	2320	c.2092G>A	c.(2092-2094)GAC>AAC	p.D698N	HDLBP_uc002wba.2_Missense_Mutation_p.D698N|HDLBP_uc002wbb.2_Missense_Mutation_p.D650N	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	698	KH 8.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		ACAACGGTGTCGCTTCCTGAA	0.602													T	242181952	C	T	242181952	3	4	258	1	0	0	0	0	1	0	0	0	7025	884	31	1	1762	1	HDLBP	2	242181952	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	7882865	242181952	1017421	36	128866											
D2HGDH	728294	broad.mit.edu	37	chr2	242695360	242695360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctgtggagcggctctacGacatcgtgactgacctgcgc	12	14	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr2:242695360G>A	uc002wce.1	+	9	1410	c.1237G>A	c.(1237-1239)GAC>AAC	p.D413N	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.D279N|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Missense_Mutation_p.D112N	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	413					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				0		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)		GCGGCTCTACGACATCGTGAC	0.567													A	242695360	G	A	242695360	3	1	258	1	0	0	0	0	1	0	0	0	4213	1058	37	1	1267	1	D2HGDH	2	242695360	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	513408	242695360	504013	37	128867											
GRM7	2917	broad.mit.edu	37	chr3	6903385	6903385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgtgacgctgggcgcgCggatcctggacacttgttcc	13	14	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:6903385C>T	uc003bqm.2	+	1	584	c.310C>T	c.(310-312)CGG>TGG	p.R104W	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R104W|GRM7_uc003bql.2_Missense_Mutation_p.R104W	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	104	Extracellular (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GCTGGGCGCGCGGATCCTGGA	0.597													T	6903385	C	T	6903385	3	4	258	1	0	0	0	0	1	0	0	0	6802	759	27	1	312	1	GRM7	3	6903385	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		6903385	191119045	38	128868											
HDAC11	79885	broad.mit.edu	37	chr3	13538326	13538326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaggtgctgaggccccttCggacccagacaggaggaacc	15	12	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:13538326C>T	uc003bxy.2	+	4	476	c.343C>T	c.(343-345)CGG>TGG	p.R115W	HDAC11_uc010heb.2_Missense_Mutation_p.R87W|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Missense_Mutation_p.R87W|HDAC11_uc011auy.1_Missense_Mutation_p.R64W	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	115	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			ovary(2)	2						GAGGCCCCTTCGGACCCAGAC	0.572											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	13538326	C	T	13538326	3	4	258	1	0	0	0	0	1	0	0	0	7006	875	31	1	357	1	HDAC11	3	13538326	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	6634941	13538326	184484104	39	128869											
SETD2	29072	broad.mit.edu	37	chr3	47098880	47098880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtttctgagcctcccGttgagccacctcttgctcaa	8	14	3	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:47098880G>A	uc003cqs.2	-	15	6447	c.6394C>T	c.(6394-6396)CGG>TGG	p.R2132W	SETD2_uc003cqv.2_Missense_Mutation_p.R2199W|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2132	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1629fs*15(1)		kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		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)		TGAGCCTCCCGTTGAGCCACC	0.453			N|F|S|Mis		clear cell renal carcinoma								A	47098880	G	A	47098880	3	1	258	1	0	0	0	0	1	0	0	0	14131	1144	40	1	1328	1	SETD2	3	47098880	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	33560554	47098880	150923550	40	128870											
STAB1	23166	broad.mit.edu	37	chr3	52556844	52556844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaatggctccactgcccaCcctgtggttttccctgtggc	10	16	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:52556844C>A	uc003dej.2	+	62	6872	c.6798C>A	c.(6796-6798)CAC>CAA	p.H2266Q	STAB1_uc003dek.1_Missense_Mutation_p.H281Q|STAB1_uc003del.2_Missense_Mutation_p.H153Q	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2266	Extracellular (Potential).|Link.				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		CCACTGCCCACCCTGTGGTTT	0.612													A	52556844	C	A	52556844	3	1	258	1	0	0	0	0	1	0	0	0	15236	506	18	5	7044	5	STAB1	3	52556844	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	5457964	52556844	145465586	41	128871											
ROBO2	6092	broad.mit.edu	37	chr3	77684060	77684060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagacctcgacctaccaGcccattttctactgacagta	5	14	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:77684060G>T	uc003dpy.3	+	24	4443	c.3800G>T	c.(3799-3801)AGC>ATC	p.S1267I	ROBO2_uc003dpz.2_Missense_Mutation_p.S1332I|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.S1271I	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1267	Cytoplasmic (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		CGACCTACCAGCCCATTTTCT	0.468													T	77684060	G	T	77684060	3	4	258	1	0	0	0	0	1	0	0	0	13514	971	34	5	3896	5	ROBO2	3	77684060	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	25127216	77684060	120338370	42	128872											
ARL13B	200894	broad.mit.edu	37	chr3	93758768	93758768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactcgatggaaccagtgGtctggctgagttggacccag	14	9	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:93758768G>A	uc003drc.2	+	6	1020	c.734G>A	c.(733-735)GGT>GAT	p.G245D	ARL13B_uc010hop.2_Missense_Mutation_p.G96D|ARL13B_uc003drd.2_Missense_Mutation_p.G138D|ARL13B_uc003dre.2_Missense_Mutation_p.G230D|ARL13B_uc003drf.2_Missense_Mutation_p.G245D|ARL13B_uc003drg.2_Missense_Mutation_p.G142D	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	245	Potential.						GTP binding				0						GGAACCAGTGGTCTGGCTGAG	0.388													A	93758768	G	A	93758768	3	1	258	1	0	0	0	0	1	0	0	0	929	1261	44	4	756	4	ARL13B	3	93758768	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	16074708	93758768	104263662	43	128873											
COPB2	9276	broad.mit.edu	37	chr3	139078162	139078162	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaaggcagcttctggCagccgtccagttctaattaa	10	11	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:139078162C>A	uc003etf.3	-	18	2383	c.2253G>T	c.(2251-2253)CTG>CTT	p.L751L	COPB2_uc011bmv.1_Silent_p.L722L|COPB2_uc010hui.2_Silent_p.L722L	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	751	WD 9.				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			ovary(2)	2						CAGCTTCTGGCAGCCGTCCAG	0.403													A	139078162	C	A	139078162	2	1	258	1	0	0	0	0	0	0	0	1	3729	697	25	5		5	COPB2	3	139078162	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	45319394	139078162	58944268	44	128874											
CLSTN2	64084	broad.mit.edu	37	chr3	140282887	140282887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggtgtgtaccgggtccGgatcgcccaccagcacttca	12	14	1	0	rs140778211		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:140282887G>A	uc003etn.2	+	16	2757	c.2567G>A	c.(2566-2568)CGG>CAG	p.R856Q		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	856	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TACCGGGTCCGGATCGCCCAC	0.547										HNSCC(16;0.037)			A	140282887	G	A	140282887	3	1	258	1	0	0	0	0	1	0	0	0	3562	1116	39	1	2629	1	CLSTN2	3	140282887	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	1204725	140282887	57739543	45	128875											
CCNL1	57018	broad.mit.edu	37	chr3	156866355	156866355	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctcgagctgtatgttccaGatcgactccgcctattatta	7	11	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:156866355G>T	uc003fbf.2	-	11	1855	c.1256C>A	c.(1255-1257)TCT>TAT	p.S419Y	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Missense_Mutation_p.S213Y|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	419	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GTATGTTCCAGATCGACTCCG	0.428													T	156866355	G	T	156866355	3	4	258	1	0	0	0	0	1	0	0	0	2931	942	33	5	328	5	CCNL1	3	156866355	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	16583468	156866355	41156075	46	128876											
SI	6476	broad.mit.edu	37	chr3	164785157	164785157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgcttttcctaataacTtggatgctaaatgggttttg	9	7	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr3:164785157T>G	uc003fei.2	-	6	668	c.606A>C	c.(604-606)CAA>CAC	p.Q202H		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	202	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCTAATAACTTGGATGCTAA	0.308										HNSCC(35;0.089)			G	164785157	T	G	164785157	3	3	258	1	0	0	0	0	1	0	0	0	14297	1606	56	5	5049	5	SI	3	164785157	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	7918802	164785157	33237273	47	128877											
PIGG	54872	broad.mit.edu	37	chr4	515701	515701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtctgttctgaccaacGtgctcgtgggtggaaacacc	12	10	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr4:515701G>A	uc003gak.3	+	8	1721	c.1585G>A	c.(1585-1587)GTG>ATG	p.V529M	PIGG_uc003gaj.3_Missense_Mutation_p.V521M|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V396M|PIGG_uc003gal.3_Missense_Mutation_p.V440M|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.V440M	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	529					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TCTGACCAACGTGCTCGTGGG	0.572													A	515701	G	A	515701	3	1	258	1	0	0	0	0	1	0	0	0	11888	1145	40	1	1615	1	PIGG	4	515701	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		515701	190638575	48	128878											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984183	41984183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacctctacgtccccaaccGgaaggtgaagtccctgtgct	9	14	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr4:41984183G>A	uc003gwk.2	+	1	471	c.374G>A	c.(373-375)CGG>CAG	p.R125Q		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	125										skin(1)	1						GTCCCCAACCGGAAGGTGAAG	0.562													A	41984183	G	A	41984183	3	1	258	1	0	0	0	0	1	0	0	0	4271	1116	39	1	376	1	DCAF4L1	4	41984183	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	41468482	41984183	149170093	49	128879											
UNC5C	8633	broad.mit.edu	37	chr4	96256683	96256683	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaggttcacgggcttattcTtcacaatataagcttcttca	6	10	5	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr4:96256683T>A	uc003htp.1	-	2	378	c.224A>T	c.(223-225)AAG>ATG	p.K75M	UNC5C_uc010ilc.1_Missense_Mutation_p.K75M|UNC5C_uc003htq.2_Missense_Mutation_p.K75M	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	75	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGGCTTATTCTTCACAATATA	0.423													A	96256683	T	A	96256683	3	1	258	1	0	0	0	0	1	0	0	0	16990	1609	56	5	2631	5	UNC5C	4	96256683	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	54272500	96256683	94897593	50	128880											
TACR3	6870	broad.mit.edu	37	chr4	104511023	104511023	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgactgtcatggactccattCtggtcacggtgtacatactg	10	11	3	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr4:104511023C>A	uc003hxe.1	-	5	1357	c.1214G>T	c.(1213-1215)AGA>ATA	p.R405I		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	405	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGACTCCATTCTGGTCACGGT	0.507													A	104511023	C	A	104511023	3	1	258	1	0	0	0	0	1	0	0	0	15504	913	32	5	187	5	TACR3	4	104511023	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	8254340	104511023	86643253	51	128881											
GYPA	2993	broad.mit.edu	37	chr4	144918764	144918764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagccatcacacacaaaaTaatgagtattatcactacag	4	11	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr4:144918764T>G	uc003ijn.2	-	5	411	c.295A>C	c.(295-297)ATT>CTT	p.I99L	GYPB_uc011chs.1_Intron|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_Intron|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_RNA|GYPB_uc011chw.1_Intron|GYPB_uc011chx.1_RNA|GYPB_uc003ijm.1_Missense_Mutation_p.I67L|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_Intron			P02724	GLPA_HUMAN	SubName: Full=Glycophorin MiX; Flags: Fragment;	96	Helical.				interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)	2	all_hematologic(180;0.15)					ACACACAAAATAATGAGTATT	0.328													G	144918764	T	G	144918764	3	3	258	1	0	0	0	0	1	0	0	0	6908	1406	49	5		5	GYPA	4	144918764	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	40407741	144918764	46235512	52	128882											
KLKB1	3818	broad.mit.edu	37	chr4	187158094	187158094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcacaaggcagagtaccGgtgagtacaattcaaggtgt	11	7	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr4:187158094G>A	uc003iyy.2	+	5	559	c.488G>A	c.(487-489)CGG>CAG	p.R163Q	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.R125Q	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	163	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		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)		GCAGAGTACCGGTGAGTACAA	0.413													A	187158094	G	A	187158094	3	1	258	1	0	0	0	0	1	0	0	0	8412	1130	39	1	502	1	KLKB1	4	187158094	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	42239330	187158094	3996182	53	128883											
TTC23L	153657	broad.mit.edu	37	chr5	34850318	34850318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcaaacaaggagctgattcGatgtgtcatcctttctcgga	10	9	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:34850318G>T	uc003jiu.2	+	4	387	c.284G>T	c.(283-285)CGA>CTA	p.R95L		NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	95	Potential.						binding			central_nervous_system(1)	1						GAGCTGATTCGATGTGTCATC	0.438													T	34850318	G	T	34850318	3	4	258	1	0	0	0	0	1	0	0	0	16688	1058	37	5	294	5	TTC23L	5	34850318	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		34850318	146064942	54	128884											
MRPS30	10884	broad.mit.edu	37	chr5	44809103	44809103	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcctttgctacgcggTccgaggctttcattgcacac	12	12	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:44809103T>G	uc003joh.2	+	1	77	c.39T>G	c.(37-39)GGT>GGG	p.G13G	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	13					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					TGCTACGCGGTCCGAGGCTTT	0.637													G	44809103	T	G	44809103	2	3	258	1	0	0	0	0	0	0	0	1	9840	1654	58	5		5	MRPS30	5	44809103	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	9958785	44809103	136106157	55	128885											
HCN1	348980	broad.mit.edu	37	chr5	45262804	45262804	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgattgcctgcaccatcTccctgtcatgtttcacaatc	7	14	3	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:45262804T>G	uc003jok.2	-	8	1917	c.1892A>C	c.(1891-1893)GAG>GCG	p.E631A		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	631	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTGCACCATCTCCCTGTCATG	0.453													G	45262804	T	G	45262804	3	3	258	1	0	0	0	0	1	0	0	0	6996	1551	54	5	784	5	HCN1	5	45262804	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	453701	45262804	135652456	56	128886											
HCN1	348980	broad.mit.edu	37	chr5	45645310	45645310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccattgatgtatgtatcTaattaaccttgaaagtcgta	6	7	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:45645310T>C	uc003jok.2	-	2	851	c.826A>G	c.(826-828)AGA>GGA	p.R276G		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	276	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TGTATGTATCTAATTAACCTT	0.333													C	45645310	T	C	45645310	3	2	258	1	0	0	0	0	1	0	0	0	6996	1530	53	3	1874	3	HCN1	5	45645310	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	382506	45645310	135269950	57	128887											
APC	324	broad.mit.edu	37	chr5	112175676	112175677	+	Frame_Shift_Ins	INS	-	-	AG													aaagcacctactgctgaaaaINSgagagagagtggacctaagc					rs121913334		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:112175675_112175676A>AAG	uc003kpz.4	+	16	4577_4578	c.4384_4385A>AAG	c.(4384-4386)aagfs	p.K1462fs	APC_uc011cvt.2_Frame_Shift_Ins_p.K1444fs|APC_uc003kpy.4_Frame_Shift_Ins_p.K1462fs|APC_uc010jbz.3_Frame_Shift_Ins_p.K1179fs|APC_uc010jca.3_Frame_Shift_Ins_p.K762fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1462	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.S1465fs*3(16)|p.K1462fs*6(5)|p.E1461*(3)|p.K1462fs*5(2)|p.K1462fs*10(2)|p.?(1)|p.K1454fs*3(1)|p.K1192fs*3(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)		TACTGCTGAAAAGAGAGAGAGT	0.45		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)			AG	112175677	-	AG	112175676	7	5	258	1	0	1	1	0	0	0	0	0	763	72	3	0	4443	0	APC	5	112175676	Frame_Shift_Ins	INS	-	TCGA-HU-8604-01A-11D-2394-08	66530366	112175676	68739584	58	128888											
ADAMTS19	171019	broad.mit.edu	37	chr5	128984623	128984623	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatagtgttagaacttcctcCccaaagcatatacttcagtg	6	10	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:128984623C>A	uc003kvb.1	+	13	2118	c.2118C>A	c.(2116-2118)TCC>TCA	p.S706S	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		GAACTTCCTCCCCAAAGCATA	0.438													A	128984623	C	A	128984623	2	1	258	1	0	0	0	0	0	0	0	1	264	610	22	5		5	ADAMTS19	5	128984623	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	16808947	128984623	51930637	59	128889											
PCDHA9	9752	broad.mit.edu	37	chr5	140229433	140229433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgcaccagcgttcgcgcagtc	13	14	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:140229433C>T	uc003lhu.2	+	1	2077	c.1353C>T	c.(1351-1353)AAC>AAT	p.N451N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.N451N	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	451	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672													T	140229433	C	T	140229433	2	4	258	1	0	0	0	0	0	0	0	1	11531	535	19	1		1	PCDHA9	5	140229433	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	11244810	140229433	40685827	60	128890											
PCDHA13	56136	broad.mit.edu	37	chr5	140261977	140261977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgaggaagcaaaacacGgcaccttcgtgggccgcatc	11	15	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:140261977G>A	uc003lif.2	+	1	124	c.124G>A	c.(124-126)GGC>AGC	p.G42S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.G42S|PCDHA13_uc003lid.2_Missense_Mutation_p.G42S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	42	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAACACGGCACCTTCGT	0.657													A	140261977	G	A	140261977	3	1	258	1	0	0	0	0	1	0	0	0	11523	1116	39	1	126	1	PCDHA13	5	140261977	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	32544	140261977	40653283	61	128891											
PCDHB4	56131	broad.mit.edu	37	chr5	140503532	140503532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaatggcgagcctccgcGctcggccaccgccacgctgc	13	18	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:140503532G>A	uc003lip.1	+	1	1952	c.1952G>A	c.(1951-1953)CGC>CAC	p.R651H		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	651	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTCCGCGCTCGGCCACC	0.706													A	140503532	G	A	140503532	3	1	258	1	0	0	0	0	1	0	0	0	11544	1087	38	1	1954	1	PCDHB4	5	140503532	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	241555	140503532	40411728	62	128892											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741307	140741307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcacactgcaggcccgCgaccagggctcgcccgcgct	13	18	1	0	rs1860252		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:140741307C>T	uc003ljs.1	+	1	1605	c.1605C>T	c.(1603-1605)CGC>CGT	p.R535R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.R535R|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGCCCGCGACCAGGGCT	0.687													T	140741307	C	T	140741307	2	4	258	1	0	0	0	0	0	0	0	1	11563	755	27	1		1	PCDHGB2	5	140741307	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	237775	140741307	40173953	63	128893											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752045	140752045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtttcacctagtagtggCgttggccttgatctcagtgc	11	10	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:140752045C>T	uc003ljw.1	+	1	2084	c.2084C>T	c.(2083-2085)GCG>GTG	p.A695V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.A695V|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	695	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGTAGTGGCGTTGGCCTTG	0.572													T	140752045	C	T	140752045	3	4	258	1	0	0	0	0	1	0	0	0	11564	768	27	1	2086	1	PCDHGB3	5	140752045	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	10738	140752045	40163215	64	128894											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768837	140768837	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtccacgtggccgagaaCaacccgcctggagcctctat	10	14	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:140768837C>A	uc003lkc.1	+	1	1386	c.1386C>A	c.(1384-1386)AAC>AAA	p.N462K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.N462K	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	462	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCGAGAACAACCCGCCTG	0.547													A	140768837	C	A	140768837	3	1	258	1	0	0	0	0	1	0	0	0	11565	477	17	5	1388	5	PCDHGB4	5	140768837	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	16792	140768837	40146423	65	128895											
ARAP3	64411	broad.mit.edu	37	chr5	141052170	141052170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcgactcttggtctccCggacgctgcagccctgcagt	11	15	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:141052170C>T	uc003llm.2	-	9	1412	c.1334G>A	c.(1333-1335)CGG>CAG	p.R445Q	ARAP3_uc011dbe.1_Missense_Mutation_p.R107Q|ARAP3_uc003lln.2_Missense_Mutation_p.R367Q|ARAP3_uc003llo.1_Missense_Mutation_p.R445Q	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	445	PH 2.				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			breast(5)|ovary(1)|large_intestine(1)	7						CTTGGTCTCCCGGACGCTGCA	0.637													T	141052170	C	T	141052170	3	4	258	1	0	0	0	0	1	0	0	0	840	652	23	1	3400	1	ARAP3	5	141052170	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	283333	141052170	39863090	66	128896											
ZNF454	285676	broad.mit.edu	37	chr5	178391973	178391973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaagtcttctctaagAgttcaactcttaataaacat	6	7	4	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr5:178391973A>G	uc003mjo.1	+	5	839	c.568A>G	c.(568-570)AGT>GGT	p.S190G	ZNF454_uc010jkz.1_Missense_Mutation_p.S190G	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	190	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CTTCTCTAAGAGTTCAACTCT	0.338													G	178391973	A	G	178391973	3	3	258	1	0	0	0	0	1	0	0	0	17920	304	11	3	582	3	ZNF454	5	178391973	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	37339803	178391973	2523287	67	128897											
ATXN1	6310	broad.mit.edu	37	chr6	16326864	16326864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgccgccggggaggccaCggactgcaccacaggcaggt	16	15	0	0	rs139918586		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:16326864C>T	uc003nbt.2	-	8	2649	c.1678G>A	c.(1678-1680)GTG>ATG	p.V560M	ATXN1_uc010jpi.2_Missense_Mutation_p.V560M|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	560	Self-association.|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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGGAGGCCACGGACTGCACC	0.632													T	16326864	C	T	16326864	3	4	258	1	0	0	0	0	1	0	0	0	1209	536	19	1	777	1	ATXN1	6	16326864	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		16326864	154788203	68	128898											
NUP153	9972	broad.mit.edu	37	chr6	17629497	17629497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaacttaaaattatcaTtcttactatcttttttaact	1	8	3	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:17629497T>C	uc003ncd.1	-	18	3133	c.2933A>G	c.(2932-2934)AAT>AGT	p.N978S	NUP153_uc011dje.1_Missense_Mutation_p.N1009S|NUP153_uc010jpl.1_Missense_Mutation_p.N936S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	978					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			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAAATTATCATTCTTACTATC	0.323													C	17629497	T	C	17629497	3	2	258	1	0	0	0	0	1	0	0	0	10755	1493	52	3	1514	3	NUP153	6	17629497	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	1302633	17629497	153485570	69	128899											
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199356	26199357	+	Frame_Shift_Ins	INS	-	-	T													cccgactcgctcggagtagtINStgcccttgcggagcaagcgg							TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:26199355_26199356G>GT	uc003ngw.3	-	0	116_117	c.116_117C>AC	c.(115-117)aacfs	p.N39fs	HIST1H3D_uc003ngv.3_5'UTR|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2BF_uc003ngx.3_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	Homo sapiens histone cluster 1, H2ad (HIST1H2AD), mRNA.	39					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GCTCGGAGTAGTTGCCCTTGCG	0.688													T	26199357	-	T	26199356	7	5	258	1	0	1	1	0	0	0	0	0	7131	1725	60	0	280	0	HIST1H2AD	6	26199356	Frame_Shift_Ins	INS	-	TCGA-HU-8604-01A-11D-2394-08	8569859	26199356	144915711	70	128900											
SLC44A4	80736	broad.mit.edu	37	chr6	31833651	31833651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgccccatccttaccGgagtgtgcggatgaaggcag	13	14	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:31833651G>A	uc010jti.2	-	14	1552	c.1486C>T	c.(1486-1488)CGT>TGT	p.R496C	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	496	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CATCCTTACCGGAGTGTGCGG	0.602													A	31833651	G	A	31833651	3	1	258	1	0	0	0	0	1	0	0	0	14638	1130	39	1	678	1	SLC44A4	6	31833651	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	5634295	31833651	139281416	71	128901											
SCUBE3	222663	broad.mit.edu	37	chr6	35210049	35210049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccaaatgccgtttgcacCtgcgaaacaaaggcaaaaca	8	11	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:35210049C>T	uc003okf.1	+	13	1492	c.1486C>T	c.(1486-1488)CTG>TTG	p.L496L	SCUBE3_uc003okg.1_Silent_p.L495L|SCUBE3_uc003okh.1_Silent_p.L383L	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	496					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CCGTTTGCACCTGCGAAACAA	0.527													T	35210049	C	T	35210049	2	4	258	1	0	0	0	0	0	0	0	1	13946	680	24	4		4	SCUBE3	6	35210049	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	3376398	35210049	135905018	72	128902											
ABCC10	89845	broad.mit.edu	37	chr6	43415571	43415571	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggccgcacaggctccggCaagtcttccctgttgttggt	14	12	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:43415571C>G	uc003ouy.1	+	18	4070	c.3855C>G	c.(3853-3855)GGC>GGG	p.G1285G	ABCC10_uc003ouz.1_Silent_p.G1257G|ABCC10_uc010jyo.1_Silent_p.G391G	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1285	ABC transporter 2.|ATP 2 (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(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)			CAGGCTCCGGCAAGTCTTCCC	0.652													G	43415571	C	G	43415571	2	3	258	1	0	0	0	0	0	0	0	1	50	697	25	5		5	ABCC10	6	43415571	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	8205522	43415571	127699496	73	128903											
TDRD6	221400	broad.mit.edu	37	chr6	46660186	46660186	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcattacttttcccaaCggaccagcgaggctgcaata	9	11	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:46660186C>A	uc003oyj.2	+	1	4321	c.4321C>A	c.(4321-4323)CGG>AGG	p.R1441R	TDRD6_uc010jze.2_Silent_p.R1435R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1441					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTTTTCCCAACGGACCAGCGA	0.388													A	46660186	C	A	46660186	2	1	258	1	0	0	0	0	0	0	0	1	15731	527	19	5		5	TDRD6	6	46660186	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	3244615	46660186	124454881	74	128904											
IMPG1	3617	broad.mit.edu	37	chr6	76751766	76751766	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacattttgtacattttttCagtactttcagttgtttcat	5	6	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:76751766C>A	uc003pik.1	-	2	275	c.145G>T	c.(145-147)GAA>TAA	p.E49*		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	49					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACATTTTTTCAGTACTTTCA	0.353													A	76751766	C	A	76751766	4	1	258	1	0	0	0	0	0	1	0	0	7728	835	29	5	2312	5	IMPG1	6	76751766	Nonsense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	30091580	76751766	94363301	75	128905											
UBE2CBP	90025	broad.mit.edu	37	chr6	83748171	83748171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaacattaccttgcaacGcttacaaattactttggtat	4	11	0	0	rs147405452	byFrequency	TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:83748171G>A	uc003pjp.2	-	5	739	c.631C>T	c.(631-633)CGT>TGT	p.R211C	UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Missense_Mutation_p.R179C	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	211						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)		ACCTTGCAACGCTTACAAATT	0.328													A	83748171	G	A	83748171	3	1	258	1	0	0	0	0	1	0	0	0	16844	1087	38	1	562	1	UBE2CBP	6	83748171	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	6996405	83748171	87366896	76	128906											
PRDM13	59336	broad.mit.edu	37	chr6	100060991	100060991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacctgcgtttccactgCgtgttcagcggcggtggagg	15	12	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:100060991C>T	uc003pqg.1	+	4	741	c.480C>T	c.(478-480)TGC>TGT	p.C160C		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GTTTCCACTGCGTGTTCAGCG	0.627													T	100060991	C	T	100060991	2	4	258	1	0	0	0	0	0	0	0	1	12454	776	27	1		1	PRDM13	6	100060991	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	16312820	100060991	71054076	77	128907											
FOXO3	2309	broad.mit.edu	37	chr6	108985242	108985242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgccatcccagccatcGcccactgggggactcatgca	9	19	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:108985242G>A	uc003psk.2	+	3	1522	c.1206G>A	c.(1204-1206)TCG>TCA	p.S402S	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.S402S|FOXO3_uc011ean.1_Silent_p.S182S|FOXO3_uc010kdj.1_Silent_p.S182S	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	402					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCAGCCATCGCCCACTGGGG	0.582													A	108985242	G	A	108985242	2	1	258	1	0	0	0	0	0	0	0	1	6024	1074	38	1		1	FOXO3	6	108985242	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	8924251	108985242	62129825	78	128908											
TRDN	10345	broad.mit.edu	37	chr6	123892170	123892170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcaggggagctgaAcgtcgtcactatgtcttctg	13	11	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:123892170A>C	uc003pzj.1	-	2	152	c.130T>G	c.(130-132)TTC>GTC	p.F44V	TRDN_uc003pzk.1_Missense_Mutation_p.F44V|TRDN_uc003pzl.1_Missense_Mutation_p.F44V|TRDN_uc010ken.2_Missense_Mutation_p.F44V|TRDN_uc010keo.1_Missense_Mutation_p.F44V	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	44	Cytoplasmic.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		GGGGAGCTGAACGTCGTCACT	0.463													C	123892170	A	C	123892170	3	2	258	1	0	0	0	0	1	0	0	0	16465	43	2	5	2219	5	TRDN	6	123892170	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	14906928	123892170	47222897	79	128909											
C6orf174	387104	broad.mit.edu	37	chr6	127837188	127837188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccagcccctgggcggcGgcggctgcggagcgcccccc	16	20	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:127837188G>A	uc003qbd.2	-	2	1437	c.572C>T	c.(571-573)CCG>CTG	p.P191L		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	191	Gly-rich.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CCTGGGCGGCGGCGGCTGCGG	0.637													A	127837188	G	A	127837188	3	1	258	1	0	0	0	0	1	0	0	0	2345	1116	39	1	2295	1	C6orf174	6	127837188	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	3945018	127837188	43277879	80	128910											
SHPRH	257218	broad.mit.edu	37	chr6	146244889	146244889	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aattctattgctctgtggatCacatttagccaccaaggaga	8	9	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:146244889C>G	uc003qlf.2	-	18	3834	c.3435G>C	c.(3433-3435)GTG>GTC	p.V1145V	SHPRH_uc003qld.2_Silent_p.V1154V|SHPRH_uc003qle.2_Silent_p.V1154V|SHPRH_uc003qlg.1_Silent_p.V701V|SHPRH_uc003qlh.2_Silent_p.V70V|SHPRH_uc003qli.1_Silent_p.V70V	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1145					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCTGTGGATCACATTTAGCC	0.363													G	146244889	C	G	146244889	2	3	258	1	0	0	0	0	0	0	0	1	14291	813	29	5		5	SHPRH	6	146244889	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	18407701	146244889	24870178	81	128911											
GRM1	2911	broad.mit.edu	37	chr6	146720447	146720447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtggtggcccctttgGgctacaatggactcctcatc	13	11	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:146720447G>A	uc010khw.1	+	8	2742	c.2272G>A	c.(2272-2274)GGC>AGC	p.G758S	GRM1_uc010khv.1_Missense_Mutation_p.G758S|GRM1_uc003qll.2_Missense_Mutation_p.G758S|GRM1_uc011edz.1_Missense_Mutation_p.G758S|GRM1_uc011eea.1_Missense_Mutation_p.G758S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	758	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCCCCTTTGGGCTACAATGG	0.512													A	146720447	G	A	146720447	3	1	258	1	0	0	0	0	1	0	0	0	6796	1232	43	4	2298	4	GRM1	6	146720447	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	475558	146720447	24394620	82	128912											
PARK2	5071	broad.mit.edu	37	chr6	162206908	162206908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtctaagcaaatcacgtggCgggagttgcactggaaaacc	12	9	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr6:162206908C>A	uc003qtx.3	-	7	901	c.767G>T	c.(766-768)CGC>CTC	p.R256L	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.R65L|PARK2_uc003qtw.3_Missense_Mutation_p.R65L|PARK2_uc003qty.3_Missense_Mutation_p.R228L|PARK2_uc003qtz.3_Missense_Mutation_p.R107L|PARK2_uc010kke.1_Missense_Mutation_p.R256L|PARK2_uc011egf.1_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	256	RING-type 1; atypical.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AATCACGTGGCGGGAGTTGCA	0.502													A	162206908	C	A	162206908	3	1	258	1	0	0	0	0	1	0	0	0	11449	768	27	5	654	5	PARK2	6	162206908	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	15486461	162206908	8908159	83	128913											
MMD2	221938	broad.mit.edu	37	chr7	4949553	4949553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagaagcccattacgaCgtagcagagaagctccacaa	12	10	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr7:4949553C>T	uc003sno.3	-	6	764	c.568G>A	c.(568-570)GTC>ATC	p.V190I	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.V166I|MMD2_uc010ksq.2_Missense_Mutation_p.V166I	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	190	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CCCATTACGACGTAGCAGAGA	0.532													T	4949553	C	T	4949553	3	4	258	1	0	0	0	0	1	0	0	0	9644	536	19	1	252	1	MMD2	7	4949553	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		4949553	154189110	84	128914											
OSBPL3	26031	broad.mit.edu	37	chr7	24892212	24892212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcttcagtttctctctctCcgctgacatgatattaaaag	6	11	3	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr7:24892212C>T	uc003sxf.2	-	11	1474	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.E357K|OSBPL3_uc003sxh.2_Missense_Mutation_p.E326K|OSBPL3_uc003sxi.2_Missense_Mutation_p.E326K|OSBPL3_uc003sxj.1_Missense_Mutation_p.E122K|OSBPL3_uc003sxk.1_Missense_Mutation_p.E91K	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	357					lipid transport		lipid binding|protein binding			skin(1)	1						TTCTCTCTCTCCGCTGACATG	0.408													T	24892212	C	T	24892212	3	4	258	1	0	0	0	0	1	0	0	0	11279	864	30	4	1646	4	OSBPL3	7	24892212	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	19942659	24892212	134246451	85	128915											
PCLO	27445	broad.mit.edu	37	chr7	82544081	82544081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcctcgagtccgtgattcTtccctcatgtgttgctgaac	9	12	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr7:82544081T>G	uc003uhx.2	-	7	13510	c.13221A>C	c.(13219-13221)GAA>GAC	p.E4407D	PCLO_uc003uhv.2_Missense_Mutation_p.E4407D|PCLO_uc010lec.2_Missense_Mutation_p.E1372D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4338					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCCGTGATTCTTCCCTCATGT	0.507													G	82544081	T	G	82544081	3	3	258	1	0	0	0	0	1	0	0	0	11583	1606	56	5	2300	5	PCLO	7	82544081	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	57651869	82544081	76594582	86	128916											
SAMD9L	219285	broad.mit.edu	37	chr7	92763852	92763852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatcttctcccacatgttaGttgtcttgtcttcatattga	5	9	5	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr7:92763852G>T	uc003umh.1	-	5	2649	c.1433C>A	c.(1432-1434)ACT>AAT	p.T478N	SAMD9L_uc003umj.1_Missense_Mutation_p.T478N|SAMD9L_uc003umi.1_Missense_Mutation_p.T478N|SAMD9L_uc010lfb.1_Missense_Mutation_p.T478N|SAMD9L_uc003umk.1_Missense_Mutation_p.T478N|SAMD9L_uc010lfc.1_Missense_Mutation_p.T478N|SAMD9L_uc010lfd.1_Missense_Mutation_p.T478N|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	478										ovary(4)	4	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)			CCACATGTTAGTTGTCTTGTC	0.408													T	92763852	G	T	92763852	3	4	258	1	0	0	0	0	1	0	0	0	13827	1029	36	5	3325	5	SAMD9L	7	92763852	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	10219771	92763852	66374811	87	128917											
DENND2A	27147	broad.mit.edu	37	chr7	140285420	140285420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagggatggaagaggtgGgagaagcaggaaaattcaag	17	3	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr7:140285420G>A	uc010lnj.2	-	3	1359	c.1214C>T	c.(1213-1215)CCC>CTC	p.P405L	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.P405L|DENND2A_uc003vvw.2_Missense_Mutation_p.P405L|DENND2A_uc003vvx.2_Missense_Mutation_p.P405L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	405										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GGAAGAGGTGGGAGAAGCAGG	0.527													A	140285420	G	A	140285420	3	1	258	1	0	0	0	0	1	0	0	0	4429	1232	43	4	1879	4	DENND2A	7	140285420	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	47521568	140285420	18853243	88	128918											
OR9A2	135924	broad.mit.edu	37	chr7	142723354	142723354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctttgactttgtcattcCgaagagtaaagatgaaagga	9	7	2	4			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr7:142723354C>T	uc003wcc.1	-	1	866	c.866G>A	c.(865-867)CGG>CAG	p.R289Q		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	289	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					TTTGTCATTCCGAAGAGTAAA	0.448													T	142723354	C	T	142723354	3	4	258	1	0	0	0	0	1	0	0	0	11248	652	23	1	70	1	OR9A2	7	142723354	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	2437934	142723354	16415309	89	128919											
CASP2	835	broad.mit.edu	37	chr7	143001810	143001810	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacgaggttcctggtacatCgaggctcttgctcaagtgtt	11	9	2	0	rs142190608	byFrequency	TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr7:143001810C>T	uc003wco.2	+	10	1308	c.1161C>T	c.(1159-1161)ATC>ATT	p.I387I	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Silent_p.I271I|CASP2_uc003wcq.2_RNA|CASP2_uc011ktb.1_Silent_p.I137I	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	387					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			lung(2)|ovary(1)	3	Melanoma(164;0.059)					CCTGGTACATCGAGGCTCTTG	0.557													T	143001810	C	T	143001810	2	4	258	1	0	0	0	0	0	0	0	1	2671	874	31	1		1	CASP2	7	143001810	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	278456	143001810	16136853	90	128920											
CSMD1	64478	broad.mit.edu	37	chr8	2967856	2967856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacgttgtacccacaaggGgctgcaaaggaaaccaagaa	11	9	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:2967856G>A	uc011kwk.1	-	43	6825	c.6435C>T	c.(6433-6435)GCC>GCT	p.A2145A	CSMD1_uc011kwj.1_Silent_p.A1537A|CSMD1_uc010lrg.2_Silent_p.A213A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2145	Extracellular (Potential).|Sushi 12.					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)		ACCCACAAGGGGCTGCAAAGG	0.453													A	2967856	G	A	2967856	2	1	258	1	0	0	0	0	0	0	0	1	3944	1246	43	4		4	CSMD1	8	2967856	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08		2967856	143396166	91	128921											
GATA4	2626	broad.mit.edu	37	chr8	11614478	11614478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccttcctcccgccagCggtgcttccagcaactccag	10	17	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:11614478C>T	uc003wuc.2	+	6	1586	c.1032C>T	c.(1030-1032)AGC>AGT	p.S344S	GATA4_uc003wub.1_Silent_p.S138S|GATA4_uc011kxc.1_Silent_p.S345S	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	344					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTCCCGCCAGCGGTGCTTCCA	0.617													T	11614478	C	T	11614478	2	4	258	1	0	0	0	0	0	0	0	1	6256	767	27	1		1	GATA4	8	11614478	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	8646622	11614478	134749544	92	128922											
KCNU1	157855	broad.mit.edu	37	chr8	36763262	36763262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagaacaagattctgaccaGcttgatagcagtgggatgtt	12	6	1	4			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:36763262G>T	uc010lvw.2	+	20	2133	c.2046G>T	c.(2044-2046)CAG>CAT	p.Q682H	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	682	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTCTGACCAGCTTGATAGCA	0.413													T	36763262	G	T	36763262	3	4	258	1	0	0	0	0	1	0	0	0	8093	962	34	5	2124	5	KCNU1	8	36763262	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	25148784	36763262	109600760	93	128923											
PLAT	5327	broad.mit.edu	37	chr8	42036423	42036423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctggttacctggcaggCgtcgtgcaagtttgcctggg	14	11	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:42036423C>T	uc003xos.2	-	13	1731	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	PLAT_uc010lxf.1_Missense_Mutation_p.A425T|PLAT_uc010lxg.1_Missense_Mutation_p.A333T|PLAT_uc003xot.2_Missense_Mutation_p.A462T|PLAT_uc011lcm.1_Missense_Mutation_p.A419T|PLAT_uc011lcn.1_Missense_Mutation_p.A382T	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	508	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCTGGCAGGCGTCGTGCAAG	0.567													T	42036423	C	T	42036423	3	4	258	1	0	0	0	0	1	0	0	0	12021	768	27	1	174	1	PLAT	8	42036423	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	5273161	42036423	104327599	94	128924											
ZFHX4	79776	broad.mit.edu	37	chr8	77767332	77767332	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgggggagaaagcccacaGaaatacatctattttgatta	10	6	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:77767332G>T	uc003yav.2	+	10	8427	c.8040G>T	c.(8038-8040)CAG>CAT	p.Q2680H	ZFHX4_uc003yau.1_Missense_Mutation_p.Q2725H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2680H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2680						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGCCCACAGAAATACATCT	0.428										HNSCC(33;0.089)			T	77767332	G	T	77767332	3	4	258	1	0	0	0	0	1	0	0	0	17632	933	33	5	8209	5	ZFHX4	8	77767332	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	35730909	77767332	68596690	95	128925											
INTS8	55656	broad.mit.edu	37	chr8	95839622	95839622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatggctgtacttctctAtaatagatggtaaatgtttt	8	6	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:95839622A>G	uc003yhb.2	+	3	563	c.437A>G	c.(436-438)TAT>TGT	p.Y146C	INTS8_uc003yha.1_Missense_Mutation_p.Y146C|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_5'Flank	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	146					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					GTACTTCTCTATAATAGATGG	0.423													G	95839622	A	G	95839622	3	3	258	1	0	0	0	0	1	0	0	0	7784	449	16	3	447	3	INTS8	8	95839622	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	18072290	95839622	50524400	96	128926											
RIMS2	9699	broad.mit.edu	37	chr8	104987701	104987701	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agatgttataggaaggactaGatcatggtcacccagtgtcc	11	8	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:104987701G>T	uc003yls.2	+	14	2469	c.2228G>T	c.(2227-2229)AGA>ATA	p.R743I	RIMS2_uc003ylp.2_Missense_Mutation_p.R965I|RIMS2_uc003ylw.2_Missense_Mutation_p.R757I|RIMS2_uc003ylq.2_Missense_Mutation_p.R757I|RIMS2_uc003ylr.2_Missense_Mutation_p.R804I|RIMS2_uc003ylt.2_Missense_Mutation_p.R350I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1027					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAAGGACTAGATCATGGTCA	0.363										HNSCC(12;0.0054)			T	104987701	G	T	104987701	3	4	258	1	0	0	0	0	1	0	0	0	13368	942	33	5	3082	5	RIMS2	8	104987701	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	9148079	104987701	41376321	97	128927											
DPYS	1807	broad.mit.edu	37	chr8	105436539	105436539	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagctattcttccttttcTtggatagagattaaaaattt	5	6	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:105436539T>G	uc003yly.3	-	7	1300	c.1171A>C	c.(1171-1173)AGA>CGA	p.R391R		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	391					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTTTTCTTGGATAGAGA	0.373													G	105436539	T	G	105436539	2	3	258	1	0	0	0	0	0	0	0	1	4746	1617	56	5		5	DPYS	8	105436539	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	448838	105436539	40927483	98	128928											
LRP12	29967	broad.mit.edu	37	chr8	105509626	105509626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtataacacccccagTtacctccacagggtatttcc	6	15	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:105509626T>G	uc003yma.2	-	5	1249	c.1154A>C	c.(1153-1155)AAC>ACC	p.N385T	LRP12_uc003ymb.2_Missense_Mutation_p.N366T|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	385	Extracellular (Potential).|LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACACCCCCAGTTACCTCCACA	0.443													G	105509626	T	G	105509626	3	3	258	1	0	0	0	0	1	0	0	0	8954	1725	60	5	1437	5	LRP12	8	105509626	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	73087	105509626	40854396	99	128929											
EXT1	2131	broad.mit.edu	37	chr8	118819534	118819534	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtatccccaccgctccttaGagttatcccagaagtggctg	9	13	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:118819534G>A	uc003yok.1	-	9	2578	c.1805C>T	c.(1804-1806)TCT>TTT	p.S602F		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	602	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCGCTCCTTAGAGTTATCCCA	0.537			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				A	118819534	G	A	118819534	3	1	258	1	0	0	0	0	1	0	0	0	5323	942	33	4	447	4	EXT1	8	118819534	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	13309908	118819534	27544488	100	128930											
TG	7038	broad.mit.edu	37	chr8	134107329	134107329	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccgccgtcatcagccatgaGagggctcagcagcaggcaat	13	13	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr8:134107329G>T	uc003ytw.2	+	42	7322	c.7281G>T	c.(7279-7281)GAG>GAT	p.E2427D	TG_uc010mdw.2_Missense_Mutation_p.E1186D|TG_uc011ljb.1_Missense_Mutation_p.E796D|TG_uc011ljc.1_Missense_Mutation_p.E560D|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2427					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TCAGCCATGAGAGGGCTCAGC	0.602													T	134107329	G	T	134107329	3	4	258	1	0	0	0	0	1	0	0	0	15810	933	33	5	7447	5	TG	8	134107329	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	15287795	134107329	12256693	101	128931											
GLIS3	169792	broad.mit.edu	37	chr9	4286252	4286252	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgagggcatcttgagatgGaggttgttagcaaggcttgc	15	7	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr9:4286252G>A	uc003zhx.1	-	2	887	c.174C>T	c.(172-174)CTC>CTT	p.L58L	GLIS3_uc003zic.1_Silent_p.L58L|GLIS3_uc003zie.1_Silent_p.L58L|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zig.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zii.1_Silent_p.L58L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(1)	1		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)		TCTTGAGATGGAGGTTGTTAG	0.592													A	4286252	G	A	4286252	2	1	258	1	0	0	0	0	0	0	0	1	6447	1161	41	4		4	GLIS3	9	4286252	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08		4286252	136927179	102	128932											
RANBP6	26953	broad.mit.edu	37	chr9	6014769	6014769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagctggcgctgcagattaCtaagcctagagtctccacat	9	13	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr9:6014769C>G	uc003zjr.2	-	1	850	c.839G>C	c.(838-840)AGT>ACT	p.S280T	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	280					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTGCAGATTACTAAGCCTAGA	0.423													G	6014769	C	G	6014769	3	3	258	1	0	0	0	0	1	0	0	0	13031	565	20	5	2482	5	RANBP6	9	6014769	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	1728517	6014769	135198662	103	128933											
DNM1	1759	broad.mit.edu	37	chr9	131010944	131010944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcaagtggagaccatccGgaatcttgtggactcataca	11	10	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr9:131010944G>A	uc011mau.1	+	19	2075	c.1988G>A	c.(1987-1989)CGG>CAG	p.R663Q	DNM1_uc011mat.1_Missense_Mutation_p.R663Q|DNM1_uc004bub.1_Missense_Mutation_p.R36Q|DNM1_uc004buc.1_Missense_Mutation_p.R130Q|DNM1_uc004bud.3_RNA	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	663	GED.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						GAGACCATCCGGAATCTTGTG	0.537													A	131010944	G	A	131010944	3	1	258	1	0	0	0	0	1	0	0	0	4670	1116	39	1	2057	1	DNM1	9	131010944	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	124996175	131010944	10202487	104	128934											
DIP2C	22982	broad.mit.edu	37	chr10	428632	428632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgagctggcacaaggaCagatgacctcctgtcgaagg	14	11	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:428632C>T	uc001ifp.2	-	17	2036	c.1946G>A	c.(1945-1947)TGT>TAT	p.C649Y	DIP2C_uc009xhj.1_Missense_Mutation_p.C345Y	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	649						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		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)		GGCACAAGGACAGATGACCTC	0.488													T	428632	C	T	428632	3	4	258	1	0	0	0	0	1	0	0	0	4529	478	17	4	2808	4	DIP2C	10	428632	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		428632	135106115	105	128935											
ITIH5	80760	broad.mit.edu	37	chr10	7679382	7679382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcataactcaggaaaaagGcggctttgtccttgctggga	11	10	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:7679382G>A	uc001ijq.2	-	5	540	c.461C>T	c.(460-462)GCC>GTC	p.A154V	ITIH5_uc001ijr.1_Missense_Mutation_p.A154V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	154	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CAGGAAAAAGGCGGCTTTGTC	0.567													A	7679382	G	A	7679382	3	1	258	1	0	0	0	0	1	0	0	0	7907	1203	42	2	2544	2	ITIH5	10	7679382	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	7250750	7679382	127855365	106	128936											
MAP3K8	1326	broad.mit.edu	37	chr10	30749642	30749642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccttttcagattcttcGtgcacaggaagcaccgagga	9	10	2	1	rs150841663		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:30749642G>A	uc001ivi.1	+	9	1977	c.1281G>A	c.(1279-1281)TCG>TCA	p.S427S	MAP3K8_uc009xlf.1_Silent_p.S427S|MAP3K8_uc001ivj.1_Silent_p.S427S	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	427			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				CAGATTCTTCGTGCACAGGAA	0.453													A	30749642	G	A	30749642	2	1	258	1	0	0	0	0	0	0	0	1	9256	1132	40	1		1	MAP3K8	10	30749642	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	23070260	30749642	104785105	107	128937											
PCDH15	65217	broad.mit.edu	37	chr10	55955568	55955568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataactgggcattgtaaaatAtggactttgattgttttcat	8	4	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:55955568A>G	uc001jju.1	-	11	1575	c.1180T>C	c.(1180-1182)TAT>CAT	p.Y394H	PCDH15_uc010qhq.1_Missense_Mutation_p.Y399H|PCDH15_uc010qhr.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhs.1_Missense_Mutation_p.Y399H|PCDH15_uc010qht.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhu.1_Missense_Mutation_p.Y394H|PCDH15_uc001jjv.1_Missense_Mutation_p.Y372H|PCDH15_uc010qhv.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhw.1_Missense_Mutation_p.Y357H|PCDH15_uc010qhx.1_Missense_Mutation_p.Y394H|PCDH15_uc010qhy.1_Missense_Mutation_p.Y399H|PCDH15_uc010qhz.1_Missense_Mutation_p.Y394H|PCDH15_uc010qia.1_Missense_Mutation_p.Y372H|PCDH15_uc010qib.1_Missense_Mutation_p.Y372H|PCDH15_uc001jjw.2_Missense_Mutation_p.Y394H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	394	Cadherin 3.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTGTAAAATATGGACTTTGA	0.403										HNSCC(58;0.16)			G	55955568	A	G	55955568	3	3	258	1	0	0	0	0	1	0	0	0	11511	449	16	3	6423	3	PCDH15	10	55955568	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	25205926	55955568	79579179	108	128938											
TET1	80312	broad.mit.edu	37	chr10	70450715	70450715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcttctcctggtcccCgaagactgcttcagccacac	8	17	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:70450715C>T	uc001jok.3	+	12	6060	c.5555C>T	c.(5554-5556)CCG>CTG	p.P1852L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1852					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TCCTGGTCCCCGAAGACTGCT	0.502													T	70450715	C	T	70450715	3	4	258	1	0	0	0	0	1	0	0	0	15766	652	23	1	5597	1	TET1	10	70450715	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	14495147	70450715	65084032	109	128939											
CRTAC1	55118	broad.mit.edu	37	chr10	99770980	99770980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgggattactgtcatAgtcaggaggcagaactgagt	15	6	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:99770980A>G	uc001kou.1	-	2	495	c.139T>C	c.(139-141)TAT>CAT	p.Y47H	CRTAC1_uc001kov.2_Missense_Mutation_p.Y36H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	47	FG-GAP 1; atypical.					proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTACTGTCATAGTCAGGAGGC	0.562													G	99770980	A	G	99770980	3	3	258	1	0	0	0	0	1	0	0	0	3896	420	15	3	1902	3	CRTAC1	10	99770980	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	29320265	99770980	35763767	110	128940											
NOLC1	9221	broad.mit.edu	37	chr10	103919306	103919306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaggagcaaaaaaaAcccatgaaaaataaaccagg	10	6	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:103919306A>C	uc001kuo.2	+	7	1075	c.840A>C	c.(838-840)AAA>AAC	p.K280N	NOLC1_uc001kup.2_Missense_Mutation_p.K290N|NOLC1_uc001kuq.2_Missense_Mutation_p.K281N|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	280	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			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGCAAAAAAAACCCATGAAAA	0.323													C	103919306	A	C	103919306	3	2	258	1	0	0	0	0	1	0	0	0	10529	40	2	5	866	5	NOLC1	10	103919306	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	4148326	103919306	31615441	111	128941											
C10orf96	374355	broad.mit.edu	37	chr10	118084562	118084562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagcacatcatcttcacCgagcatcaggcggaggagag	11	11	5	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr10:118084562C>T	uc001lck.2	+	2	290	c.39C>T	c.(37-39)ACC>ACT	p.T13T		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	13	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		TCATCTTCACCGAGCATCAGG	0.522													T	118084562	C	T	118084562	2	4	258	1	0	0	0	0	0	0	0	1	1627	639	23	1		1	C10orf96	10	118084562	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	14165256	118084562	17450185	112	128942											
TH	7054	broad.mit.edu	37	chr11	2185600	2185600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttcacggagaaggggcGctggatgcgtgaggcatagc	17	8	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:2185600G>A	uc001lvq.2	-	14	1469	c.1450C>T	c.(1450-1452)CGC>TGC	p.R484C	TH_uc001lvp.2_Missense_Mutation_p.R480C|TH_uc001lvr.2_Missense_Mutation_p.R453C|TH_uc010qxj.1_Missense_Mutation_p.R457C|TH_uc001lvs.2_Missense_Mutation_p.R359C|TH_uc001lvt.2_Missense_Mutation_p.R363C	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	484					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				0		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)	GAGAAGGGGCGCTGGATGCGT	0.687													A	2185600	G	A	2185600	3	1	258	1	0	0	0	0	1	0	0	0	15835	1087	38	1	140	1	TH	11	2185600	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		2185600	132820916	113	128943											
UBQLN3	50613	broad.mit.edu	37	chr11	5530452	5530452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggagtgatccaggacTtgggccctgggtagggacag	18	8	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:5530452T>C	uc001may.1	-	2	423	c.337A>G	c.(337-339)AGT>GGT	p.S113G	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	113										ovary(3)	3		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)		GATCCAGGACTTGGGCCCTGG	0.612													C	5530452	T	C	5530452	3	2	258	1	0	0	0	0	1	0	0	0	16895	1609	56	3	1634	3	UBQLN3	11	5530452	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	3344852	5530452	129476064	114	128944											
UBQLNL	143630	broad.mit.edu	37	chr11	5537480	5537480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actagttggtccatctggcaTtggaagtgagccaatagcat	11	8	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:5537480T>C	uc001maz.3	-	1	477	c.192A>G	c.(190-192)CAA>CAG	p.Q64Q	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	64	Ubiquitin-like.									large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CCATCTGGCATTGGAAGTGAG	0.498													C	5537480	T	C	5537480	2	2	258	1	0	0	0	0	0	0	0	1	16897	1490	52	3		3	UBQLNL	11	5537480	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	7028	5537480	129469036	115	128945											
ANO3	63982	broad.mit.edu	37	chr11	26581277	26581277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcaggtgacatatttGttcgataatggagggacagt	11	6	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:26581277G>A	uc001mqt.3	+	14	1543	c.1398G>A	c.(1396-1398)TTG>TTA	p.L466L	ANO3_uc010rdr.1_Silent_p.L450L|ANO3_uc010rds.1_Silent_p.L305L|ANO3_uc010rdt.1_Silent_p.L320L|MUC15_uc001mqw.2_3'UTR|MUC15_uc001mqx.2_3'UTR|MUC15_uc001mqy.2_3'UTR	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	466	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGACATATTTGTTCGATAATG	0.328													A	26581277	G	A	26581277	2	1	258	1	0	0	0	0	0	0	0	1	698	1368	48	4		4	ANO3	11	26581277	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	21043797	26581277	108425239	116	128946											
OR4C16	219428	broad.mit.edu	37	chr11	55340006	55340006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcactacatgaccatcataAgccagtgggtctgtggtgtt	11	9	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:55340006A>C	uc010rih.1	+	1	403	c.403A>C	c.(403-405)AGC>CGC	p.S135R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GACCATCATAAGCCAGTGGGT	0.507													C	55340006	A	C	55340006	3	2	258	1	0	0	0	0	1	0	0	0	11049	72	3	5	405	5	OR4C16	11	55340006	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	28758729	55340006	79666510	117	128947											
OR4P4	81300	broad.mit.edu	37	chr11	55406228	55406228	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcccctgcactacaccaTtattatgagcaggcaaaagt	7	12	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:55406228T>G	uc010rij.1	+	1	395	c.395T>G	c.(394-396)ATT>AGT	p.I132S		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						CACTACACCATTATTATGAGC	0.433													G	55406228	T	G	55406228	3	3	258	1	0	0	0	0	1	0	0	0	11080	1493	52	5	397	5	OR4P4	11	55406228	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	66222	55406228	79600288	118	128948											
OR5T2	219464	broad.mit.edu	37	chr11	55999981	55999981	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgagtgtcagaataAgaaatagcaaggagaggagg	15	2	1	4			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:55999981A>C	uc010rjc.1	-	1	681	c.681T>G	c.(679-681)TCT>TCG	p.S227S		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	227	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423													C	55999981	A	C	55999981	2	2	258	1	0	0	0	0	0	0	0	1	11182	59	3	5		5	OR5T2	11	55999981	Silent	SNP	A	TCGA-HU-8604-01A-11D-2394-08	593753	55999981	79006535	119	128949											
MS4A14	84689	broad.mit.edu	37	chr11	60184378	60184378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttatgccaagattcagaatCccaaatacagcaataccaat	5	10	1	2	rs145801550		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:60184378C>A	uc001npj.2	+	5	2502	c.1937C>A	c.(1936-1938)TCC>TAC	p.S646Y	MS4A14_uc001npi.2_Missense_Mutation_p.S534Y|MS4A14_uc001npn.2_Missense_Mutation_p.S384Y|MS4A14_uc001npk.2_Missense_Mutation_p.S629Y|MS4A14_uc001npl.2_Missense_Mutation_p.S384Y|MS4A14_uc001npm.2_Missense_Mutation_p.S384Y	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	646	Gln-rich.					integral to membrane	receptor activity			breast(1)	1						GATTCAGAATCCCAAATACAG	0.463													A	60184378	C	A	60184378	3	1	258	1	0	0	0	0	1	0	0	0	9858	855	30	5	1955	5	MS4A14	11	60184378	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	4184397	60184378	74822138	120	128950											
DDB1	1642	broad.mit.edu	37	chr11	61079287	61079287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggcctcaaggctgtcGtgcccccactcgtgtcttgg	13	15	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:61079287G>A	uc001nrc.3	-	18	2472	c.2246C>T	c.(2245-2247)ACG>ATG	p.T749M	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.T749M	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	749	Interaction with CDT1.				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			ovary(2)|lung(1)|central_nervous_system(1)	4						CAAGGCTGTCGTGCCCCCACT	0.463								NER					A	61079287	G	A	61079287	3	1	258	1	0	0	0	0	1	0	0	0	4323	1145	40	1	1216	1	DDB1	11	61079287	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	894909	61079287	73927229	121	128951											
PCNXL3	399909	broad.mit.edu	37	chr11	65387389	65387389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgctgtgcactattTctacgatgagagcggtgagc	15	7	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:65387389T>G	uc001oey.2	+	8	1994	c.1994T>G	c.(1993-1995)TTC>TGC	p.F665C		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	665						integral to membrane					0						GTGCACTATTTCTACGATGAG	0.617													G	65387389	T	G	65387389	3	3	258	1	0	0	0	0	1	0	0	0	11593	1783	62	5	2024	5	PCNXL3	11	65387389	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	4308102	65387389	69619127	122	128952											
P2RY6	5031	broad.mit.edu	37	chr11	73008084	73008084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcatccagcgtaaccGcactgtctgctatgacctca	8	15	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:73008084G>A	uc001otm.2	+	4	926	c.521G>A	c.(520-522)CGC>CAC	p.R174H	P2RY6_uc001otn.2_Missense_Mutation_p.R174H|P2RY6_uc001oto.2_Missense_Mutation_p.R174H|P2RY6_uc001otp.2_Missense_Mutation_p.R174H|P2RY6_uc001otq.2_Missense_Mutation_p.R174H|P2RY6_uc001otr.2_Missense_Mutation_p.R174H|P2RY6_uc001ots.2_Missense_Mutation_p.R174H	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	174	Extracellular (Potential).				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			ovary(1)	1						CAGCGTAACCGCACTGTCTGC	0.637													A	73008084	G	A	73008084	3	1	258	1	0	0	0	0	1	0	0	0	11354	1087	38	1	523	1	P2RY6	11	73008084	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	7620695	73008084	61998432	123	128953											
FUT4	2526	broad.mit.edu	37	chr11	94278700	94278700	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttcccaagtgcctcctcCctggcctcgtacctgctttt	7	17	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:94278700C>A	uc001pez.2	+	1	1684	c.1401C>A	c.(1399-1401)TCC>TCA	p.S467S	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	fucosyltransferase 4	467	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			skin(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGCCTCCTCCCTGGCCTCGT	0.667													A	94278700	C	A	94278700	2	1	258	1	0	0	0	0	0	0	0	1	6106	610	22	5		5	FUT4	11	94278700	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	21270616	94278700	40727816	124	128954											
PGR	5241	broad.mit.edu	37	chr11	100933339	100933339	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaggttgatcagtggtggaAtcaactgtatgtcttgacct	11	7	3	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:100933339A>T	uc001pgh.2	-	4	2794	c.2051T>A	c.(2050-2052)ATT>AAT	p.I684N	PGR_uc001pgg.2_Missense_Mutation_p.I65N|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	684	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			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		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)	CAGTGGTGGAATCAACTGTAT	0.468													T	100933339	A	T	100933339	3	4	258	1	0	0	0	0	1	0	0	0	11805	101	4	5	770	5	PGR	11	100933339	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	6654639	100933339	34073177	125	128955											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810753	106810753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtggcctgttttccaaaAgaagttctaatgtgttccaa	9	7	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:106810753A>G	uc001pjg.1	-	4	1029	c.639T>C	c.(637-639)TCT>TCC	p.S213S	GUCY1A2_uc010rvo.1_Silent_p.S213S|GUCY1A2_uc009yxn.1_Silent_p.S213S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	213					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		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)		GTTTTCCAAAAGAAGTTCTAA	0.453													G	106810753	A	G	106810753	2	3	258	1	0	0	0	0	0	0	0	1	6893	59	3	3		3	GUCY1A2	11	106810753	Silent	SNP	A	TCGA-HU-8604-01A-11D-2394-08	5877414	106810753	28195763	126	128956											
IL10RA	3587	broad.mit.edu	37	chr11	117866365	117866365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgctctccggagccctCgcctactgcctggccctcca	9	20	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:117866365C>T	uc001prv.2	+	6	827	c.750C>T	c.(748-750)CTC>CTT	p.L250L	IL10RA_uc010rxl.1_Silent_p.L230L|IL10RA_uc010rxm.1_Silent_p.L230L|IL10RA_uc010rxn.1_Silent_p.L101L|IL10RA_uc001prw.2_Silent_p.L101L	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	250	Helical; (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	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)		CCGGAGCCCTCGCCTACTGCC	0.587													T	117866365	C	T	117866365	2	4	258	1	0	0	0	0	0	0	0	1	7620	871	31	1		1	IL10RA	11	117866365	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	11055612	117866365	17140151	127	128957											
CXCR5	643	broad.mit.edu	37	chr11	118765000	118765000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggttgcgccaggcccaGcggcgccctcagcggcagaa	14	16	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:118765000G>A	uc001pue.3	+	2	857	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	CXCR5_uc001puf.2_Silent_p.Q204Q	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	249	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	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)		GCCAGGCCCAGCGGCGCCCTC	0.617													A	118765000	G	A	118765000	2	1	258	1	0	0	0	0	0	0	0	1	4094	962	34	2		2	CXCR5	11	118765000	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	898635	118765000	16241516	128	128958											
TECTA	7007	broad.mit.edu	37	chr11	120998532	120998532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgccccgacacatgctccGacctgacggcctcgcggaac	11	18	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:120998532G>A	uc010rzo.1	+	8	1846	c.1846G>A	c.(1846-1848)GAC>AAC	p.D616N		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	616	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CACATGCTCCGACCTGACGGC	0.642													A	120998532	G	A	120998532	3	1	258	1	0	0	0	0	1	0	0	0	15744	1058	37	1	1876	1	TECTA	11	120998532	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	2233532	120998532	14007984	129	128959											
OR8D4	338662	broad.mit.edu	37	chr11	123778075	123778075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagaaaaatatctttatctCcaggataaatatgctcttta	5	6	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr11:123778075C>T	uc010saa.1	+	1	937	c.937C>T	c.(937-939)CCA>TCA	p.P313S		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		ATCTTTATCTCCAGGATAAAT	0.269													T	123778075	C	T	123778075	3	4	258	1	0	0	0	0	1	0	0	0	11233	855	30	4	939	4	OR8D4	11	123778075	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	2779543	123778075	11228441	130	128960											
CACNA1C	775	broad.mit.edu	37	chr12	2622033	2622033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagatttccagaagctgCgggagaagcagcagctagaa	16	7	0	4			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:2622033C>T	uc009zdu.1	+	9	1586	c.1273C>T	c.(1273-1275)CGG>TGG	p.R425W	CACNA1C_uc009zdv.1_Missense_Mutation_p.R422W|CACNA1C_uc001qkb.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkc.2_Missense_Mutation_p.R425W|CACNA1C_uc001qke.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkf.2_Missense_Mutation_p.R425W|CACNA1C_uc001qjz.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkd.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkg.2_Missense_Mutation_p.R425W|CACNA1C_uc009zdw.1_Missense_Mutation_p.R425W|CACNA1C_uc001qkh.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkl.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkn.2_Missense_Mutation_p.R425W|CACNA1C_uc001qko.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkp.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkr.2_Missense_Mutation_p.R425W|CACNA1C_uc001qku.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkq.2_Missense_Mutation_p.R425W|CACNA1C_uc001qks.2_Missense_Mutation_p.R425W|CACNA1C_uc001qkt.2_Missense_Mutation_p.R425W|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.R161W|CACNA1C_uc001qkj.1_Missense_Mutation_p.R161W|CACNA1C_uc001qkk.1_Missense_Mutation_p.R161W|CACNA1C_uc001qkm.1_Missense_Mutation_p.R161W|CACNA1C_uc009zdy.1_Missense_Mutation_p.R50W|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	425	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	CCAGAAGCTGCGGGAGAAGCA	0.552													T	2622033	C	T	2622033	3	4	258	1	0	0	0	0	1	0	0	0	2540	759	27	1	1415	1	CACNA1C	12	2622033	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		2622033	131229862	131	128961											
TAS2R13	50838	broad.mit.edu	37	chr12	11061719	11061719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaacttactaatatttccCagatcagcccaattctggag	5	12	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:11061719C>A	uc001qzg.1	-	1	443	c.179G>T	c.(178-180)TGG>TTG	p.W60L	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	60	Helical; Name=2; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2						TAATATTTCCCAGATCAGCCC	0.373													A	11061719	C	A	11061719	3	1	258	1	0	0	0	0	1	0	0	0	15564	595	21	5	736	5	TAS2R13	12	11061719	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	8439686	11061719	122790176	132	128962											
PDE3A	5139	broad.mit.edu	37	chr12	20766614	20766614	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgaagagagctctgaaaaaGacaagcttgctattccaaag	9	8	1	4			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:20766614G>C	uc001reh.1	+	3	1271	c.1249G>C	c.(1249-1251)GAC>CAC	p.D417H		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	417					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			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTCTGAAAAAGACAAGCTTGC	0.428													C	20766614	G	C	20766614	3	2	258	1	0	0	0	0	1	0	0	0	11637	942	33	5	1259	5	PDE3A	12	20766614	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	9704895	20766614	113085281	133	128963											
SLCO1B3	28234	broad.mit.edu	37	chr12	21011495	21011495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctttaccacatttcTtcatgggatagtaagtgtta	7	7	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:21011495T>G	uc001rek.2	+	4	475	c.349T>G	c.(349-351)TTC>GTC	p.F117V	SLCO1B3_uc001rel.2_Missense_Mutation_p.F117V|SLCO1B3_uc010sil.1_Missense_Mutation_p.F117V|LST-3TM12_uc010sim.1_Missense_Mutation_p.F117V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	117	Helical; Name=3; (Potential).				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			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					ACCACATTTCTTCATGGGATA	0.338													G	21011495	T	G	21011495	3	3	258	1	0	0	0	0	1	0	0	0	14724	1609	56	5	359	5	SLCO1B3	12	21011495	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	244881	21011495	112840400	134	128964											
PYROXD1	79912	broad.mit.edu	37	chr12	21602575	21602575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctaaaccaaagttgataTgtgaaggaaatccttatgta	9	5	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:21602575T>C	uc001rew.2	+	4	491	c.364T>C	c.(364-366)TGT>CGT	p.C122R	PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	122							oxidoreductase activity			ovary(1)	1						aaagttgatatgtgaaggaaa	0.259													C	21602575	T	C	21602575	3	2	258	1	0	0	0	0	1	0	0	0	12866	1464	51	3	378	3	PYROXD1	12	21602575	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	591080	21602575	112249320	135	128965											
LRRK2	120892	broad.mit.edu	37	chr12	40714877	40714877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatagagcttccccattgtgAgaactctgaaattatcatcc	7	10	2	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:40714877A>T	uc001rmg.3	+	35	5178	c.5057A>T	c.(5056-5058)GAG>GTG	p.E1686V	LRRK2_uc009zjw.2_Missense_Mutation_p.E524V|LRRK2_uc001rmi.2_Missense_Mutation_p.E519V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1686					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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCCCATTGTGAGAACTCTGAA	0.398													T	40714877	A	T	40714877	3	4	258	1	0	0	0	0	1	0	0	0	9033	304	11	5	5195	5	LRRK2	12	40714877	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	19112302	40714877	93137018	136	128966											
NR4A1	3164	broad.mit.edu	37	chr12	52448549	52448549	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccctccacgcccagctTccagccgccccagctctctc	7	23	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:52448549T>G	uc001rzs.2	+	3	751	c.437T>G	c.(436-438)TTC>TGC	p.F146C	NR4A1_uc010sno.1_Missense_Mutation_p.F159C|NR4A1_uc001rzr.2_Missense_Mutation_p.F146C|NR4A1_uc009zmb.1_Missense_Mutation_p.F146C|NR4A1_uc001rzt.2_Missense_Mutation_p.F146C|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	146					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				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACGCCCAGCTTCCAGCCGCCC	0.687													G	52448549	T	G	52448549	3	3	258	1	0	0	0	0	1	0	0	0	10632	1783	62	5	439	5	NR4A1	12	52448549	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	11733672	52448549	81403346	137	128967											
KRT3	3850	broad.mit.edu	37	chr12	53186067	53186067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggccttgcttctctgagCgatatcctcatactgtgcac	8	13	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:53186067C>T	uc001say.2	-	5	1210	c.1144G>A	c.(1144-1146)GCT>ACT	p.A382T		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	382	Rod.|Coil 2.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						CTTCTCTGAGCGATATCCTCA	0.547													T	53186067	C	T	53186067	3	4	258	1	0	0	0	0	1	0	0	0	8466	768	27	1	762	1	KRT3	12	53186067	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	737518	53186067	80665828	138	128968											
OR6C6	283365	broad.mit.edu	37	chr12	55688654	55688654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtttgcagatggcaacGtagcggtcataggacatggc	15	7	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:55688654G>A	uc010sph.1	-	1	363	c.363C>T	c.(361-363)TAC>TAT	p.Y121Y		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2						AGATGGCAACGTAGCGGTCAT	0.388													A	55688654	G	A	55688654	2	1	258	1	0	0	0	0	0	0	0	1	11194	1140	40	1		1	OR6C6	12	55688654	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	2502587	55688654	78163241	139	128969											
RAB5B	5869	broad.mit.edu	37	chr12	56384549	56384549	+	Frame_Shift_Del	DEL	C	C	-													gttattgccctggcagggaaCaaagctgacctggccaacaa							TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:56384548_56384548AC>A	uc001siv.3	+	3	578	c.398_398AC>A	c.(397-399)aacfs	p.N133fs	RAB5B_uc001siw.3_Frame_Shift_Del_p.N133fs|RAB5B_uc010spz.2_Intron|RAB5B_uc009zog.3_Frame_Shift_Del_p.N73fs	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	133					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.G132G(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CTGGCAGGGAACAAAGCTGAC	0.502													-	56384549	C	-	56384549	7	5	258	1	0	1	0	1	0	0	0	0	12949	477	17	0	409	0	RAB5B	12	56384549	Frame_Shift_Del	DEL	C	TCGA-HU-8604-01A-11D-2394-08	695895	56384549	77467346	140	128970											
KCNC2	3747	broad.mit.edu	37	chr12	75601257	75601257	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaatgaggtcgggggtctcGaagatgtccagcgcctcctc	13	13	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:75601257G>A	uc001sxg.1	-	2	1051	c.507C>T	c.(505-507)TTC>TTT	p.F169F	KCNC2_uc009zry.2_Silent_p.F169F|KCNC2_uc001sxe.2_Silent_p.F169F|KCNC2_uc001sxf.2_Silent_p.F169F|KCNC2_uc010stw.1_Silent_p.F169F	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	169	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						CGGGGGTCTCGAAGATGTCCA	0.721													A	75601257	G	A	75601257	2	1	258	1	0	0	0	0	0	0	0	1	8015	1049	37	1		1	KCNC2	12	75601257	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	19216708	75601257	58250638	141	128971											
ACSS3	79611	broad.mit.edu	37	chr12	81532956	81532956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcattgaacctggaaggaGggtagagtacgtaccacttg	14	7	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:81532956G>T	uc001szl.1	+	4	783	c.692G>T	c.(691-693)AGG>ATG	p.R231M	ACSS3_uc001szm.1_Missense_Mutation_p.R230M	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	231						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CCTGGAAGGAGGGTAGAGTAC	0.348													T	81532956	G	T	81532956	3	4	258	1	0	0	0	0	1	0	0	0	190	1000	35	5	706	5	ACSS3	12	81532956	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	5931699	81532956	52318939	142	128972											
USP44	84101	broad.mit.edu	37	chr12	95927656	95927656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagaaataagaatcatcaCctgtacccatggaccgtaaa	7	9	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:95927656C>T	uc001teg.2	-	2	521	c.377G>A	c.(376-378)GGT>GAT	p.G126D	USP44_uc001teh.2_Missense_Mutation_p.G126D|USP44_uc009zte.2_Missense_Mutation_p.G123D	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	126					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			lung(1)|breast(1)|central_nervous_system(1)	3						AGAATCATCACCTGTACCCAT	0.428													T	95927656	C	T	95927656	3	4	258	1	0	0	0	0	1	0	0	0	17072	507	18	4	1781	4	USP44	12	95927656	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	14394700	95927656	37924239	143	128973											
BTBD11	121551	broad.mit.edu	37	chr12	108013802	108013802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggctggagtctttgcGgatcgccttccagcagcacc	12	14	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:108013802G>A	uc001tmk.1	+	11	3013	c.2492G>A	c.(2491-2493)CGG>CAG	p.R831Q	BTBD11_uc009zut.1_Missense_Mutation_p.R712Q|BTBD11_uc001tmj.2_Missense_Mutation_p.R831Q|BTBD11_uc001tml.1_Missense_Mutation_p.R368Q	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	831	ANK 5.					integral to membrane	DNA binding			skin(2)|ovary(1)	3						GAGTCTTTGCGGATCGCCTTC	0.428													A	108013802	G	A	108013802	3	1	258	1	0	0	0	0	1	0	0	0	1539	1116	39	1	2639	1	BTBD11	12	108013802	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	12086146	108013802	25838093	144	128974											
ZCCHC8	55596	broad.mit.edu	37	chr12	122975087	122975087	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttttactaaatttgatacAaattcctctatttcttgatg	3	7	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:122975087A>T	uc001ucn.2	-	4	476	c.345T>A	c.(343-345)TTT>TTA	p.F115L	ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	115						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	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)		AATTTGATACAAATTCCTCTA	0.333													T	122975087	A	T	122975087	3	4	258	1	0	0	0	0	1	0	0	0	17591	127	5	5	1822	5	ZCCHC8	12	122975087	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	14961285	122975087	10876808	145	128975											
TMEM132B	114795	broad.mit.edu	37	chr12	126139127	126139127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccatcctcccagaggaCggcggcccatacaccaactc	7	19	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr12:126139127C>T	uc001uhe.1	+	9	3116	c.3108C>T	c.(3106-3108)GAC>GAT	p.D1036D	TMEM132B_uc001uhf.1_Silent_p.D548D	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1036	Cytoplasmic (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	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)		TCCCAGAGGACGGCGGCCCAT	0.473													T	126139127	C	T	126139127	2	4	258	1	0	0	0	0	0	0	0	1	16043	535	19	1		1	TMEM132B	12	126139127	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	3164040	126139127	7712768	146	128976											
IFT88	8100	broad.mit.edu	37	chr13	21217687	21217689	+	In_Frame_Del	DEL	AGG	AGG	-													cctcaagttttatctaagctAggagaattatatgatcgtga							TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:21217687_21217689delAGG	uc001unh.2	+	21	2199_2201	c.1803_1805delAGG	c.(1801-1806)CTAGGA>CTA	p.G602del	IFT88_uc001uni.2_In_Frame_Del_p.G593del|IFT88_uc001unj.2_In_Frame_Del_p.G592del|IFT88_uc010tcq.1_In_Frame_Del_p.G573del	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	602	TPR 10.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		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)		TATCTAAGCTAGGAGAATTATAT	0.345													-	21217689	AGG	-	21217687	7	5	258	1	0	1	0	1	0	0	0	0	7566	407	15	0	1877	0	IFT88	13	21217687	In_Frame_Del	DEL	AGG	TCGA-HU-8604-01A-11D-2394-08		21217687	93952191	147	128977											
EFHA1	221154	broad.mit.edu	37	chr13	22095431	22095431	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcattaccatctgtatccaGcattttaaaagcaacatgaa	4	10	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:22095431G>C	uc001uof.2	-	6	572	c.550C>G	c.(550-552)CTG>GTG	p.L184V		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	184	EF-hand 1.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCTGTATCCAGCATTTTAAAA	0.308													C	22095431	G	C	22095431	3	2	258	1	0	0	0	0	1	0	0	0	4943	962	34	5	782	5	EFHA1	13	22095431	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	877744	22095431	93074447	148	128978											
TNFRSF19	55504	broad.mit.edu	37	chr13	24190051	24190051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcacagtgtgtgacgtgcCggctgcacaggttcaaggag	15	9	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:24190051C>T	uc001uov.1	+	4	290	c.226C>T	c.(226-228)CGG>TGG	p.R76W	TNFRSF19_uc001uot.2_Missense_Mutation_p.R76W|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.R76W	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	76	TNFR-Cys 2.|Extracellular (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGTGACGTGCCGGCTGCACAG	0.537													T	24190051	C	T	24190051	3	4	258	1	0	0	0	0	1	0	0	0	16289	643	23	1	236	1	TNFRSF19	13	24190051	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	2094620	24190051	90979827	149	128979											
RXFP2	122042	broad.mit.edu	37	chr13	32365959	32365959	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagttatttcaaaaactttCgatactgctcctatgctccc	4	11	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:32365959C>T	uc001utt.2	+	15	1233	c.1162C>T	c.(1162-1164)CGA>TGA	p.R388*	RXFP2_uc010aba.2_Nonsense_Mutation_p.R347*	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	388	Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CAAAAACTTTCGATACTGCTC	0.423													T	32365959	C	T	32365959	4	4	258	1	0	0	0	0	0	1	0	0	13760	876	31	1	1220	1	RXFP2	13	32365959	Nonsense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	8175908	32365959	82803919	150	128980											
ZC3H13	23091	broad.mit.edu	37	chr13	46541793	46541793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagttttgcttcacaGcgtttcacagactctatttg	6	12	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:46541793G>A	uc010tfw.1	-	14	4173	c.4167C>T	c.(4165-4167)CGC>CGT	p.R1389R	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Silent_p.R1389R	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1389							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TTGCTTCACAGCGTTTCACAG	0.313													A	46541793	G	A	46541793	2	1	258	1	0	0	0	0	0	0	0	1	17562	958	34	2		2	ZC3H13	13	46541793	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	14175834	46541793	68628085	151	128981											
LRCH1	23143	broad.mit.edu	37	chr13	47224395	47224395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgccattttgtatcactgGaaattcttaatctgtatcac	6	8	4	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:47224395G>A	uc001vbj.2	+	2	603	c.367G>A	c.(367-369)GAA>AAA	p.E123K	LRCH1_uc010acp.2_Missense_Mutation_p.E123K|LRCH1_uc001vbk.2_Missense_Mutation_p.E123K|LRCH1_uc001vbl.3_Missense_Mutation_p.E123K	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	123	LRR 2.									ovary(1)|central_nervous_system(1)	2		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)		TGTATCACTGGAAATTCTTAA	0.348													A	47224395	G	A	47224395	3	1	258	1	0	0	0	0	1	0	0	0	8932	1175	41	4	373	4	LRCH1	13	47224395	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	682602	47224395	67945483	152	128982											
PCDH17	27253	broad.mit.edu	37	chr13	58207414	58207414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagcccggtcttcgaggCgccatcctacttggtggaac	11	14	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:58207414C>T	uc001vhq.1	+	1	1626	c.734C>T	c.(733-735)GCG>GTG	p.A245V	PCDH17_uc010aec.1_Missense_Mutation_p.A245V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	245	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCTTCGAGGCGCCATCCTAC	0.602													T	58207414	C	T	58207414	3	4	258	1	0	0	0	0	1	0	0	0	11512	768	27	1	736	1	PCDH17	13	58207414	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	10983019	58207414	56962464	153	128983											
PCDH17	27253	broad.mit.edu	37	chr13	58299127	58299127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatggctgtgaagcaaAaccaggagccctggctgaag	14	10	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:58299127A>C	uc001vhq.1	+	4	4071	c.3179A>C	c.(3178-3180)AAA>ACA	p.K1060T	PCDH17_uc010aec.1_Missense_Mutation_p.K1059T|PCDH17_uc001vhr.1_Missense_Mutation_p.K149T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1060	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGTGAAGCAAAACCAGGAGCC	0.552													C	58299127	A	C	58299127	3	2	258	1	0	0	0	0	1	0	0	0	11512	14	1	5	3193	5	PCDH17	13	58299127	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	91713	58299127	56870751	154	128984											
PCDH20	64881	broad.mit.edu	37	chr13	61985660	61985660	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaatctctggttcttttcTtaaaagactctcaatgtaac	4	8	4	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:61985660T>C	uc001vid.3	-	2	2936	c.2572A>G	c.(2572-2574)AGA>GGA	p.R858G	PCDH20_uc010thj.1_Missense_Mutation_p.R858G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	831	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTTCTTTTCTTAAAAGACTC	0.408													C	61985660	T	C	61985660	3	2	258	1	0	0	0	0	1	0	0	0	11515	1617	56	3	287	3	PCDH20	13	61985660	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	3686533	61985660	53184218	155	128985											
GPC5	2262	broad.mit.edu	37	chr13	92408651	92408651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagatggacttccctgctgGaatggagaagatatagtaaa	12	6	0	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr13:92408651G>T	uc010tif.1	+	5	1623	c.1257G>T	c.(1255-1257)TGG>TGT	p.W419C		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	419						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTCCCTGCTGGAATGGAGAAG	0.383													T	92408651	G	T	92408651	3	4	258	1	0	0	0	0	1	0	0	0	6601	1183	41	5	1275	5	GPC5	13	92408651	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	30422991	92408651	22761227	156	128986											
OR10G2	26534	broad.mit.edu	37	chr14	22102698	22102698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagttgagccacacagcCaccaaacgggatagccttga	9	12	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr14:22102698C>T	uc010tmc.1	-	1	301	c.301G>A	c.(301-303)GGC>AGC	p.G101S		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	101	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCCACACAGCCACCAAACGGG	0.507													T	22102698	C	T	22102698	3	4	258	1	0	0	0	0	1	0	0	0	10899	594	21	4	634	4	OR10G2	14	22102698	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		22102698	85246842	157	128987											
FOXG1	2290	broad.mit.edu	37	chr14	29237297	29237297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcggcggcaccacggGcaagctgcggcgccgctcca	14	16	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr14:29237297G>A	uc001wqe.2	+	1	1011	c.812G>A	c.(811-813)GGC>GAC	p.G271D		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	271	Fork-head.				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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCACCACGGGCAAGCTGCGG	0.701													A	29237297	G	A	29237297	3	1	258	1	0	0	0	0	1	0	0	0	6007	1203	42	2	814	2	FOXG1	14	29237297	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	7134599	29237297	78112243	158	128988											
SYT16	83851	broad.mit.edu	37	chr14	62463155	62463155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccacatgtgctttcttctAttgcggaggaagagcatcac	9	10	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr14:62463155A>G	uc001xfu.1	+	1	615	c.418A>G	c.(418-420)ATT>GTT	p.I140V	SYT16_uc010tsd.1_Missense_Mutation_p.I140V	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	140										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCTTTCTTCTATTGCGGAGGA	0.473													G	62463155	A	G	62463155	3	3	258	1	0	0	0	0	1	0	0	0	15469	449	16	3	420	3	SYT16	14	62463155	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	33225858	62463155	44886385	159	128989											
NIPA2	81614	broad.mit.edu	37	chr15	23021278	23021278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctccaatgaaaatgctgGagctcatagccaatcccaga	7	12	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:23021278G>A	uc001yux.2	-	4	672	c.59C>T	c.(58-60)TCC>TTC	p.S20F	NIPA2_uc001yuy.2_Missense_Mutation_p.S20F|NIPA2_uc001yuz.2_Missense_Mutation_p.S20F|NIPA2_uc001yva.2_Missense_Mutation_p.S20F|NIPA2_uc001yvb.2_Missense_Mutation_p.S20F|NIPA2_uc010ayb.2_Missense_Mutation_p.S20F	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	20	Helical; (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAAAATGCTGGAGCTCATAGC	0.428													A	23021278	G	A	23021278	3	1	258	1	0	0	0	0	1	0	0	0	10423	1174	41	4	1043	4	NIPA2	15	23021278	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		23021278	79510114	160	128990											
SNRPN	6638	broad.mit.edu	37	chr15	25222082	25222082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccctggggttggtagggCagctggtagaggagtaccag	19	7	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:25222082C>A	uc001ywp.1	+	10	1216	c.326C>A	c.(325-327)GCA>GAA	p.A109E	SNRPN_uc001ywq.1_Missense_Mutation_p.A109E|SNRPN_uc001ywr.1_Missense_Mutation_p.A109E|SNRPN_uc001yws.1_Missense_Mutation_p.A109E|SNRPN_uc001ywt.1_Missense_Mutation_p.A109E|SNRPN_uc001ywv.1_Missense_Mutation_p.A112E|SNRPN_uc001yww.1_Missense_Mutation_p.A109E|SNRPN_uc001ywx.1_Missense_Mutation_p.A109E|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	109					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GTTGGTAGGGCAGCTGGTAGA	0.562									Prader-Willi_syndrome				A	25222082	C	A	25222082	3	1	258	1	0	0	0	0	1	0	0	0	14870	710	25	5	340	5	SNRPN	15	25222082	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	2200804	25222082	77309310	161	128991											
GABRG3	2567	broad.mit.edu	37	chr15	27271960	27271960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattggtcctgtgtcatcaAtaaacatggtaagaagctcc	9	9	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:27271960A>G	uc001zbg.1	+	3	428	c.262A>G	c.(262-264)ATA>GTA	p.I88V	GABRG3_uc001zbf.2_Missense_Mutation_p.I88V	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	88	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		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)		TGTGTCATCAATAAACATGGT	0.378													G	27271960	A	G	27271960	3	3	258	1	0	0	0	0	1	0	0	0	6173	101	4	3	272	3	GABRG3	15	27271960	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	2049878	27271960	75259432	162	128992											
TTBK2	146057	broad.mit.edu	37	chr15	43067607	43067607	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcagaaggacttccaGttgttttatgtcctacagcc	7	12	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:43067607G>C	uc001zqo.2	-	13	2163	c.1724C>G	c.(1723-1725)ACT>AGT	p.T575S	TTBK2_uc010bcy.2_Missense_Mutation_p.T506S	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	575					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		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)		AGGACTTCCAGTTGTTTTATG	0.443													C	43067607	G	C	43067607	3	2	258	1	0	0	0	0	1	0	0	0	16674	1029	36	5	2022	5	TTBK2	15	43067607	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	15795647	43067607	59463785	163	128993											
MFAP1	4236	broad.mit.edu	37	chr15	44105482	44105482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctttcctcagccatgcGttttgcttcctgctccagct	8	16	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:44105482G>A	uc001zth.1	-	5	875	c.691C>T	c.(691-693)CGC>TGC	p.R231C		NM_005926	NP_005917	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	231						microfibril				skin(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;4.33e-07)		TCAGCCATGCGTTTTGCTTCC	0.483													A	44105482	G	A	44105482	3	1	258	1	0	0	0	0	1	0	0	0	9513	1145	40	1	648	1	MFAP1	15	44105482	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	1037875	44105482	58425910	164	128994											
ANPEP	290	broad.mit.edu	37	chr15	90349397	90349397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagcctcccacaccacGcaggaccaccctgtgcccct	9	20	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:90349397G>A	uc002bop.3	-	2	710	c.418C>T	c.(418-420)CGT>TGT	p.R140C		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	140	Extracellular.|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			ovary(3)|skin(1)	4	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)	CCCACACCACGCAGGACCACC	0.617													A	90349397	G	A	90349397	3	1	258	1	0	0	0	0	1	0	0	0	710	1087	38	1	2565	1	ANPEP	15	90349397	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	46243915	90349397	12181995	165	128995											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706046	92706046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacctgcctgttctggaGcacgttctgtggggagcaag	13	12	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:92706046G>A	uc002bqx.2	+	10	2015	c.1814G>A	c.(1813-1815)AGC>AAC	p.S605N	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S605N|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S547N	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	605	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTGTTCTGGAGCACGTTCTGT	0.562													A	92706046	G	A	92706046	3	1	258	1	0	0	0	0	1	0	0	0	14728	971	34	2	1852	2	SLCO3A1	15	92706046	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	2356649	92706046	9825346	166	128996											
LASS3	204219	broad.mit.edu	37	chr15	100942975	100942975	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagccctgaggccgttcttTaaacaatccatctctttgcc	6	14	3	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr15:100942975T>C	uc002bvz.2	-	13	1597	c.1095A>G	c.(1093-1095)TTA>TTG	p.L365L	LASS3_uc002bwa.2_Silent_p.L376L|LASS3_uc002bwb.2_Silent_p.L365L	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	LAG1 longevity assurance homolog 3	365						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)			GGCCGTTCTTTAAACAATCCA	0.433													C	100942975	T	C	100942975	2	2	258	1	0	0	0	0	0	0	0	1	8640	1751	61	3		3	LASS3	15	100942975	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	8236929	100942975	1588417	167	128997											
SEC14L5	9717	broad.mit.edu	37	chr16	5064923	5064923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcagcgccgccacctcGtcctcctcctccggccagtc	8	22	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr16:5064923G>A	uc002cye.2	+	16	2223	c.2043G>A	c.(2041-2043)TCG>TCA	p.S681S		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	681	Ser-rich.					integral to membrane|intracellular	transporter activity				0						CCGCCACCTCGTCCTCCTCCT	0.657													A	5064923	G	A	5064923	2	1	258	1	0	0	0	0	0	0	0	1	13985	1132	40	1		1	SEC14L5	16	5064923	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08		5064923	85289830	168	128998											
A2BP1	54715	broad.mit.edu	37	chr16	7568266	7568266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccctcatccccaccccGcgccagagtacacaggccag	9	21	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr16:7568266G>A	uc002cys.2	+	5	1133	c.145G>A	c.(145-147)GCG>ACG	p.A49T	A2BP1_uc010buf.1_Missense_Mutation_p.A49T|A2BP1_uc002cyr.1_Missense_Mutation_p.A49T|A2BP1_uc002cyt.2_Missense_Mutation_p.A49T|A2BP1_uc010uxz.1_Missense_Mutation_p.A92T|A2BP1_uc010uya.1_Missense_Mutation_p.A85T|A2BP1_uc002cyv.1_Missense_Mutation_p.A49T|A2BP1_uc010uyb.1_Missense_Mutation_p.A49T|A2BP1_uc002cyw.2_Missense_Mutation_p.A69T|A2BP1_uc002cyy.2_Missense_Mutation_p.A69T|A2BP1_uc002cyx.2_Missense_Mutation_p.A69T|A2BP1_uc010uyc.1_Missense_Mutation_p.A69T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	49					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TCCCCACCCCGCGCCAGAGTA	0.662													A	7568266	G	A	7568266	3	1	258	1	0	0	0	0	1	0	0	0	3	1087	38	1	242	1	A2BP1	16	7568266	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	2503343	7568266	82786487	169	128999											
PMM2	5373	broad.mit.edu	37	chr16	8941586	8941586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgtctttccagggtggCaatgaccatgagatcttcac	10	10	3	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr16:8941586C>T	uc002czf.3	+	8	715	c.645C>T	c.(643-645)GGC>GGT	p.G215G	PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Silent_p.G132G|PMM2_uc010uyh.1_Silent_p.G90G|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Silent_p.G68G|PMM2_uc002czg.1_5'Flank	NM_000303	NP_000294	O15305	PMM2_HUMAN	phosphomannomutase 2	215					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			ovary(1)	1						TCCAGGGTGGCAATGACCATG	0.547													T	8941586	C	T	8941586	2	4	258	1	0	0	0	0	0	0	0	1	12137	697	25	2		2	PMM2	16	8941586	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	1373320	8941586	81413167	170	129000											
TEPP	374739	broad.mit.edu	37	chr16	58019442	58019442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacagaagcccctgcctttCgactccctgtaagtgacgcc	10	15	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr16:58019442C>A	uc002emw.3	+	6	781	c.744C>A	c.(742-744)TTC>TTA	p.F248L	TEPP_uc002emv.3_Missense_Mutation_p.F275L	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	248						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						CCCTGCCTTTCGACTCCCTGT	0.627													A	58019442	C	A	58019442	3	1	258	1	0	0	0	0	1	0	0	0	15757	883	31	5	847	5	TEPP	16	58019442	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	49077856	58019442	32335311	171	129001											
CENPN	55839	broad.mit.edu	37	chr16	81061840	81061840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagagggaagaacccctccGatgcctaataaagttctcta	9	10	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr16:81061840G>A	uc002ffx.2	+	10	1665	c.875G>A	c.(874-876)CGA>CAA	p.R292Q	CENPN_uc010vnl.1_Missense_Mutation_p.R258Q|CENPN_uc010vnm.1_Missense_Mutation_p.R272Q|CENPN_uc002ffy.3_Missense_Mutation_p.R292Q	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN	centromere protein N isoform 2	292					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0						GAACCCCTCCGATGCCTAATA	0.393													A	81061840	G	A	81061840	3	1	258	1	0	0	0	0	1	0	0	0	3238	1058	37	1	997	1	CENPN	16	81061840	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	23042398	81061840	9292913	172	129002											
KLHL36	79786	broad.mit.edu	37	chr16	84690914	84690914	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcggcttgatgccttcatCgatggcttcatcctgaacca	9	12	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr16:84690914C>T	uc002fig.2	+	3	642	c.501C>T	c.(499-501)ATC>ATT	p.I167I	KLHL36_uc010chl.2_Silent_p.I166I	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	167	BACK.									skin(2)	2						ATGCCTTCATCGATGGCTTCA	0.572													T	84690914	C	T	84690914	2	4	258	1	0	0	0	0	0	0	0	1	8389	874	31	1		1	KLHL36	16	84690914	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	3629074	84690914	5663839	173	129003											
TUBB3	10381	broad.mit.edu	37	chr16	90002028	90002028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttcacggccatgttccGgcgcaaggccttcctgcact	11	15	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr16:90002028G>A	uc002fph.1	+	4	1234	c.1169G>A	c.(1168-1170)CGG>CAG	p.R390Q	TUBB3_uc002fpf.2_Missense_Mutation_p.R737Q|TUBB3_uc010ciz.1_Missense_Mutation_p.R318Q|TUBB3_uc002fpg.1_Missense_Mutation_p.R244Q|TUBB3_uc002fpi.1_Missense_Mutation_p.R318Q|TUBB3_uc002fpj.1_Missense_Mutation_p.R318Q|TUBB3_uc010cjb.1_Missense_Mutation_p.R244Q|TUBB3_uc002fpk.1_Missense_Mutation_p.R244Q	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	390					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		GCCATGTTCCGGCGCAAGGCC	0.627													A	90002028	G	A	90002028	3	1	258	1	0	0	0	0	1	0	0	0	16754	1116	39	1	1183	1	TUBB3	16	90002028	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	5311114	90002028	352725	174	129004											
SERPINF2	5345	broad.mit.edu	37	chr17	1657612	1657612	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccttcctcttcttcatcttCgaggacaccacaggccttcc	5	18	4	0	rs147941157		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:1657612C>T	uc002ftk.1	+	10	1337	c.1260C>T	c.(1258-1260)TTC>TTT	p.F420F	SERPINF2_uc010vqr.1_Silent_p.F356F	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	420					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TCTTCATCTTCGAGGACACCA	0.652													T	1657612	C	T	1657612	2	4	258	1	0	0	0	0	0	0	0	1	14115	883	31	1		1	SERPINF2	17	1657612	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08		1657612	79537598	175	129005											
POLR2A	5430	broad.mit.edu	37	chr17	7416898	7416898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacccagctattcacctaCtagtcccaactacacaccta	2	17	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:7416898C>T	uc002ghf.3	+	29	5549	c.5315C>T	c.(5314-5316)ACT>ATT	p.T1772I		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1772	26.|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			pancreas(1)	1		Prostate(122;0.173)				TATTCACCTACTAGTCCCAAC	0.463													T	7416898	C	T	7416898	3	4	258	1	0	0	0	0	1	0	0	0	12214	565	20	4	5429	4	POLR2A	17	7416898	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	5759286	7416898	73778312	176	129006											
TP53	7157	broad.mit.edu	37	chr17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-													tccattgcttgggacggcaaGggggactgtagatgggtgaa							TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:7579584_7579584AG>A	uc002gim.2	-	3	297	c.103_103CT>T	c.(103-105)ttgfs	p.L35fs	TP53_uc002gig.1_Frame_Shift_Del_p.L35fs|TP53_uc002gih.3_Frame_Shift_Del_p.L35fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.L35fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L35fs|TP53_uc002gij.2_Frame_Shift_Del_p.L35fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.L50fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	35	Interaction with HRMT1L2.|Transcription activation (acidic).		L -> F (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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.L35fs*9(4)|p.L35F(3)|p.L35fs*8(2)|p.P34L(2)|p.L35fs*10(1)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*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)		TGGGACGGCAAGGGGGACTGT	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)			-	7579585	G	-	7579585	7	5	258	1	0	1	0	1	0	0	0	0	16378	987	35	0	1200	0	TP53	17	7579585	Frame_Shift_Del	DEL	G	TCGA-HU-8604-01A-11D-2394-08	162687	7579585	73615625	177	129007											
GAS7	8522	broad.mit.edu	37	chr17	9820567	9820567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatctccatgtccacagggCggatgttgcccgtcttgtgc	12	12	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:9820567C>A	uc002gmg.1	-	14	1570	c.1409G>T	c.(1408-1410)CGC>CTC	p.R470L	GAS7_uc010vvc.1_Missense_Mutation_p.R284L|GAS7_uc002gmh.1_Missense_Mutation_p.R330L|GAS7_uc010vvd.1_Missense_Mutation_p.R422L|GAS7_uc002gmi.2_Missense_Mutation_p.R406L|GAS7_uc002gmj.1_Missense_Mutation_p.R410L|GAS7_uc010coh.1_Missense_Mutation_p.R410L	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	470					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTCCACAGGGCGGATGTTGCC	0.637			T	MLL	AML*								A	9820567	C	A	9820567	3	1	258	1	0	0	0	0	1	0	0	0	6250	768	27	5	25	5	GAS7	17	9820567	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	2240982	9820567	71374643	178	129008											
MYO1D	4642	broad.mit.edu	37	chr17	30986210	30986210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacttcacgtgcttcccGtagtctcgcatggtcttgac	10	14	3	1	rs150683059		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:30986210G>A	uc002hho.1	-	17	2280	c.2268C>T	c.(2266-2268)TAC>TAT	p.Y756Y	MYO1D_uc002hhp.1_Silent_p.Y756Y	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	756						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGTGCTTCCCGTAGTCTCGCA	0.532											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30986210	G	A	30986210	2	1	258	1	0	0	0	0	0	0	0	1	10071	1140	40	1		1	MYO1D	17	30986210	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	21165643	30986210	50209000	179	129009											
AMAC1	146861	broad.mit.edu	37	chr17	33521011	33521011	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgagcagggcacagaAgaaggcccggcttcggatgt	16	8	0	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:33521011A>C	uc002hjd.2	-	1	402	c.316T>G	c.(316-318)TTC>GTC	p.F106V		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	106	DUF6 1.|Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		AGGGCACAGAAGAAGGCCCGG	0.587													C	33521011	A	C	33521011	3	2	258	1	0	0	0	0	1	0	0	0	559	72	3	5	704	5	AMAC1	17	33521011	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	2534801	33521011	47674199	180	129010											
KRT39	390792	broad.mit.edu	37	chr17	39114929	39114929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcccatccttaatcTccttggtgatggtgcaaatt	7	11	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:39114929T>C	uc002hvo.1	-	7	1436	c.1400A>G	c.(1399-1401)GAG>GGG	p.E467G	KRT39_uc010wfm.1_Missense_Mutation_p.E200G	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	467	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				ATCCTTAATCTCCTTGGTGAT	0.498													C	39114929	T	C	39114929	3	2	258	1	0	0	0	0	1	0	0	0	8476	1551	54	3	79	3	KRT39	17	39114929	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	5593918	39114929	42080281	181	129011											
KRT35	3886	broad.mit.edu	37	chr17	39635168	39635168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctcatctcctccagaactCggttcaggtcaacaggtggg	10	13	4	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:39635168C>T	uc002hws.2	-	4	834	c.791G>A	c.(790-792)CGA>CAA	p.R264Q		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	264	Rod.|Coil 2.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				CTCCAGAACTCGGTTCAGGTC	0.552													T	39635168	C	T	39635168	3	4	258	1	0	0	0	0	1	0	0	0	8472	884	31	1	592	1	KRT35	17	39635168	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	520239	39635168	41560042	182	129012											
STAT3	6774	broad.mit.edu	37	chr17	40476996	40476996	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctaaccttgggattgttggtCagcatgttgtaccacaggat	11	8	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:40476996C>T	uc002hzl.1	-	16	1689	c.1449G>A	c.(1447-1449)CTG>CTA	p.L483L	STAT3_uc002hzk.1_Silent_p.L483L|STAT3_uc002hzm.1_Silent_p.L483L|STAT3_uc010wgh.1_Silent_p.L385L|STAT3_uc002hzn.1_Silent_p.L483L	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	483					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			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GATTGTTGGTCAGCATGTTGT	0.547									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				T	40476996	C	T	40476996	2	4	258	1	0	0	0	0	0	0	0	1	15265	813	29	4		4	STAT3	17	40476996	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	841828	40476996	40718214	183	129013											
SLC35B1	10237	broad.mit.edu	37	chr17	47782507	47782507	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagtagctctccatagccGactgtgtgttcttctatccc	8	12	3	1	rs150721486	byFrequency	TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:47782507G>A	uc002iph.1	-	5	594	c.507C>T	c.(505-507)GTC>GTT	p.V169V	SLC35B1_uc002ipi.1_Silent_p.V102V|SLC35B1_uc002ipj.1_Silent_p.V45V|SLC35B1_uc010wly.1_Silent_p.V169V	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	169	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						CTCCATAGCCGACTGTGTGTT	0.488													A	47782507	G	A	47782507	2	1	258	1	0	0	0	0	0	0	0	1	14575	1045	37	1		1	SLC35B1	17	47782507	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	7305511	47782507	33412703	184	129014											
ABCA8	10351	broad.mit.edu	37	chr17	66902186	66902186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatgcattttatttaccCgattcattaattgtagattt	4	6	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:66902186C>T	uc002jhp.2	-	17	2456	c.2277G>A	c.(2275-2277)TCG>TCA	p.S759S	ABCA8_uc002jhq.2_Silent_p.S799S|ABCA8_uc010wqq.1_Silent_p.S799S|ABCA8_uc010wqr.1_Silent_p.S738S|ABCA8_uc002jhr.2_Silent_p.S799S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	759						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					TTTATTTACCCGATTCATTAA	0.328													T	66902186	C	T	66902186	2	4	258	1	0	0	0	0	0	0	0	1	38	666	23	1		1	ABCA8	17	66902186	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	19119679	66902186	14293024	185	129015											
FADS6	283985	broad.mit.edu	37	chr17	72889611	72889611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagcacctccagctccCgcagcagcgcctcgccccca	8	23	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:72889611C>T	uc002jmd.1	-	1	95	c.83G>A	c.(82-84)CGG>CAG	p.R28Q		NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	34					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)					CTCCAGCTCCCGCAGCAGCGC	0.706													T	72889611	C	T	72889611	3	4	258	1	0	0	0	0	1	0	0	0	5368	652	23	1	993	1	FADS6	17	72889611	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	5987425	72889611	8305599	186	129016											
TNRC6C	57690	broad.mit.edu	37	chr17	76089149	76089149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccccatagctggtcacGtgccaaatctgacagtgata	9	11	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:76089149G>A	uc002jud.2	+	16	4706	c.4106G>A	c.(4105-4107)CGT>CAT	p.R1369H	TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1369					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGGTCACGTGCCAAATCT	0.502													A	76089149	G	A	76089149	3	1	258	1	0	0	0	0	1	0	0	0	16339	1145	40	1	4156	1	TNRC6C	17	76089149	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	3199538	76089149	5106061	187	129017											
BAHCC1	57597	broad.mit.edu	37	chr17	79410252	79410252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaggaactgcctgcgcCgccggacgaggtctcagcca	13	17	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr17:79410252C>T	uc002kaf.2	+	3	1877	c.1877C>T	c.(1876-1878)CCG>CTG	p.P626L	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	626							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CTGCCTGCGCCGCCGGACGAG	0.662													T	79410252	C	T	79410252	3	4	258	1	0	0	0	0	1	0	0	0	1296	652	23	1	1726	1	BAHCC1	17	79410252	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	3321103	79410252	1784958	188	129018											
LAMA1	284217	broad.mit.edu	37	chr18	7036008	7036008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatgatgacgtcagcatgcGacatgaggttactgtctacc	10	9	2	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr18:7036008G>A	uc002knm.2	-	13	1911	c.1817C>T	c.(1816-1818)TCG>TTG	p.S606L	LAMA1_uc010wzj.1_Missense_Mutation_p.S82L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	606	Laminin IV type A 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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCAGCATGCGACATGAGGTT	0.433													A	7036008	G	A	7036008	3	1	258	1	0	0	0	0	1	0	0	0	8605	1059	37	1	7614	1	LAMA1	18	7036008	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		7036008	71041240	189	129019											
CDH2	1000	broad.mit.edu	37	chr18	25727656	25727656	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattgagaagaggctgtccTtcatgcacatccttcgataa	8	11	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr18:25727656T>G	uc002kwg.2	-	2	612	c.153A>C	c.(151-153)GAA>GAC	p.E51D		NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	51					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			ovary(3)|lung(1)	4						GAGGCTGTCCTTCATGCACAT	0.398													G	25727656	T	G	25727656	3	3	258	1	0	0	0	0	1	0	0	0	3105	1606	56	5	2627	5	CDH2	18	25727656	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	18691648	25727656	52349592	190	129020											
SMAD2	4087	broad.mit.edu	37	chr18	45395639	45395639	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaactctctgatagtgGtaagggtttacacatacttc	8	9	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr18:45395639G>C	uc002lcy.2	-	4	743	c.495C>G	c.(493-495)TAC>TAG	p.Y165*	SMAD2_uc002lcz.2_Nonsense_Mutation_p.Y165*|SMAD2_uc010xdc.1_Nonsense_Mutation_p.Y135*|SMAD2_uc010xdd.1_Nonsense_Mutation_p.Y135*	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	165	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			large_intestine(3)|lung(1)|central_nervous_system(1)	5						TCTGATAGTGGTAAGGGTTTA	0.368													C	45395639	G	C	45395639	4	2	258	1	0	0	0	0	0	1	0	0	14758	1256	44	5	940	5	SMAD2	18	45395639	Nonsense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	19667983	45395639	32681609	191	129021											
ZNF516	9658	broad.mit.edu	37	chr18	74154275	74154275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcgcacgggaactcccCggggctcagctcgggcttgc	13	17	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr18:74154275C>T	uc010dqx.1	-	2	971	c.736G>A	c.(736-738)GGG>AGG	p.G246R	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGAACTCCCCGGGGCTCAGC	0.687													T	74154275	C	T	74154275	3	4	258	1	0	0	0	0	1	0	0	0	17957	652	23	1	2776	1	ZNF516	18	74154275	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	28758636	74154275	3922973	192	129022											
ZNF236	7776	broad.mit.edu	37	chr18	74622027	74622027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacatctcatcctcagatgGgtttgtggctccacaggacc	9	12	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr18:74622027G>T	uc002lmi.2	+	15	2747	c.2549G>T	c.(2548-2550)GGG>GTG	p.G850V	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	850					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		TCCTCAGATGGGTTTGTGGCT	0.498													T	74622027	G	T	74622027	3	4	258	1	0	0	0	0	1	0	0	0	17786	1232	43	5	2607	5	ZNF236	18	74622027	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	467752	74622027	3455221	193	129023											
EMR1	2015	broad.mit.edu	37	chr19	6897451	6897451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcagatatcaatgagtGcctcaccagcagcgtctgcc	8	14	4	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:6897451G>A	uc002mfw.2	+	5	445	c.407G>A	c.(406-408)TGC>TAC	p.C136Y	EMR1_uc010dvc.2_Missense_Mutation_p.C136Y|EMR1_uc010dvb.2_Missense_Mutation_p.C84Y|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Missense_Mutation_p.C136Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	136	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					ATCAATGAGTGCCTCACCAGC	0.478													A	6897451	G	A	6897451	3	1	258	1	0	0	0	0	1	0	0	0	5104	1319	46	2	425	2	EMR1	19	6897451	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		6897451	52231532	194	129024											
MAN2B1	4125	broad.mit.edu	37	chr19	12760024	12760024	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagtcagctgcatgtTtccatcctgggagttgaagg	12	10	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:12760024T>A	uc002mub.2	-	20	2438	c.2362A>T	c.(2362-2364)AAC>TAC	p.N788Y	MAN2B1_uc010dyv.1_Missense_Mutation_p.N787Y	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	788					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						AGCTGCATGTTTCCATCCTGG	0.582													A	12760024	T	A	12760024	3	1	258	1	0	0	0	0	1	0	0	0	9216	1841	64	5	693	5	MAN2B1	19	12760024	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	5862573	12760024	46368959	195	129025											
RAD23A	5886	broad.mit.edu	37	chr19	13059627	13059627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggagtatctgctcacGgtgaggtggggcttccgcct	16	11	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:13059627G>A	uc002mvw.1	+	5	709	c.600G>A	c.(598-600)ACG>ACA	p.T200T	RAD23A_uc002mvx.1_Silent_p.T200T|RAD23A_uc002mvz.1_Silent_p.T200T|RAD23A_uc002mwa.1_Silent_p.T200T|RAD23A_uc002mvy.1_Silent_p.T35T|RAD23A_uc010xmw.1_Silent_p.T35T	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	200	UBA 1.				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)	1						ATCTGCTCACGGTGAGGTGGG	0.647								NER					A	13059627	G	A	13059627	2	1	258	1	0	0	0	0	0	0	0	1	12982	1130	39	1		1	RAD23A	19	13059627	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	299603	13059627	46069356	196	129026											
OR10H2	26538	broad.mit.edu	37	chr19	15839276	15839276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgagcccacggggctgCgcctgcctggtgggctgctc	15	15	1	1	rs147373947	byFrequency	TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:15839276C>T	uc002nbm.2	+	1	443	c.423C>T	c.(421-423)TGC>TGT	p.C141C		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CACGGGGCTGCGCCTGCCTGG	0.632													T	15839276	C	T	15839276	2	4	258	1	0	0	0	0	0	0	0	1	10906	776	27	1		1	OR10H2	19	15839276	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	2779649	15839276	43289707	197	129027											
ZNF253	56242	broad.mit.edu	37	chr19	20003046	20003046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctaaccttactatacaTaagagaattcatacaggaga	6	8	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:20003046T>C	uc002noj.2	+	4	1082	c.990T>C	c.(988-990)CAT>CAC	p.H330H	ZNF253_uc002nok.2_Silent_p.H254H|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	330	C2H2-type 6.			Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTACTATACATAAGAGAATTC	0.388													C	20003046	T	C	20003046	2	2	258	1	0	0	0	0	0	0	0	1	17794	1403	49	3		3	ZNF253	19	20003046	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	4163770	20003046	39125937	198	129028											
ZNF431	170959	broad.mit.edu	37	chr19	21365865	21365865	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttactagacacaagagaatTcatactggagagaaaccctt	7	9	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:21365865T>A	uc002npp.2	+	5	906	c.759T>A	c.(757-759)ATT>ATA	p.I253I	ZNF431_uc010ecq.2_Silent_p.I162I|ZNF431_uc010ecr.2_Silent_p.I254I	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	253	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						ACAAGAGAATTCATACTGGAG	0.363													A	21365865	T	A	21365865	2	1	258	1	0	0	0	0	0	0	0	1	17902	1771	62	5		5	ZNF431	19	21365865	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	1362819	21365865	37763118	199	129029											
ZNF99	7652	broad.mit.edu	37	chr19	22940707	22940707	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcagtatgaattacTttatgtctagtaaggtgtga	8	5	3	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:22940707T>G	uc010xrh.1	-	5	1731	c.1731A>C	c.(1729-1731)AAA>AAC	p.K577N		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTACTTTATGTCTAG	0.363													G	22940707	T	G	22940707	3	3	258	1	0	0	0	0	1	0	0	0	18201	1606	56	5	1393	5	ZNF99	19	22940707	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	1574842	22940707	36188276	200	129030											
TSHZ3	57616	broad.mit.edu	37	chr19	31768677	31768677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccttgcacccatcccgCggggggctggggctgttctc	13	16	1	0	rs151270303		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:31768677C>T	uc002nsy.3	-	2	2087	c.2022G>A	c.(2020-2022)CCG>CCA	p.P674P		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	674					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					ACCCATCCCGCGGGGGGCTGG	0.657													T	31768677	C	T	31768677	2	4	258	1	0	0	0	0	0	0	0	1	16622	755	27	1		1	TSHZ3	19	31768677	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	8827970	31768677	27360306	201	129031											
ACTN4	81	broad.mit.edu	37	chr19	39215080	39215080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgccaggtgcagcagCtggtgccaaaacgggaccat	12	13	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:39215080C>T	uc002oja.1	+	16	1944	c.1885C>T	c.(1885-1887)CTG>TTG	p.L629L	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	629	Spectrin 3.				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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGCAGCAGCTGGTGCCAAA	0.701													T	39215080	C	T	39215080	2	4	258	1	0	0	0	0	0	0	0	1	207	796	28	2		2	ACTN4	19	39215080	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	7446403	39215080	19913903	202	129032											
RTN2	6253	broad.mit.edu	37	chr19	45998025	45998025	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgctctccaagctgtcGcccaggctgggctgagggtg	17	11	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:45998025G>T	uc002pcb.2	-	3	546	c.318C>A	c.(316-318)GGC>GGA	p.G106G	RTN2_uc002pcc.2_Silent_p.G106G|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	106						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCAAGCTGTCGCCCAGGCTGG	0.711													T	45998025	G	T	45998025	2	4	258	1	0	0	0	0	0	0	0	1	13726	1074	38	5		5	RTN2	19	45998025	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	6782945	45998025	13130958	203	129033											
ZC3H4	23211	broad.mit.edu	37	chr19	47588354	47588354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcgtcatcgttcattcCgcccttgttcatccctcctc	5	17	4	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:47588354C>T	uc002pga.3	-	8	1104	c.1066G>A	c.(1066-1068)GGA>AGA	p.G356R	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	356	Gly-rich.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		TCGTTCATTCCGCCCTTGTTC	0.587													T	47588354	C	T	47588354	3	4	258	1	0	0	0	0	1	0	0	0	17567	661	23	1	2877	1	ZC3H4	19	47588354	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	1590329	47588354	11540629	204	129034											
KLK13	26085	broad.mit.edu	37	chr19	51559890	51559890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctgggtttcatattttCggattgtttcacggatccac	10	9	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:51559890C>T	uc002pvn.2	-	5	831	c.788G>A	c.(787-789)CGA>CAA	p.R263Q	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.R190Q|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.R111Q	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	263	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512													T	51559890	C	T	51559890	3	4	258	1	0	0	0	0	1	0	0	0	8401	884	31	1	49	1	KLK13	19	51559890	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	3971536	51559890	7569093	205	129035											
ZNF347	84671	broad.mit.edu	37	chr19	53645344	53645344	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccctgtgtgagtaatAaagaagagataaaatctttg	9	5	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:53645344A>G	uc002qbb.1	-	5	806	c.737T>C	c.(736-738)TTA>TCA	p.L246S	ZNF347_uc010eql.1_Missense_Mutation_p.L247S|ZNF347_uc002qbc.1_Missense_Mutation_p.L247S	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAGTAATAAAGAAGAGAT	0.358													G	53645344	A	G	53645344	3	3	258	1	0	0	0	0	1	0	0	0	17858	372	13	3	1786	3	ZNF347	19	53645344	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	2085454	53645344	5483639	206	129036											
LENG9	94059	broad.mit.edu	37	chr19	54974143	54974143	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcggccttgtgctccctcgCttgggggcagcctgggcctc	15	15	0	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:54974143C>G	uc010yez.1	-	1	752	c.633G>C	c.(631-633)AAG>AAC	p.K211N		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	211					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TGCTCCCTCGCTTGGGGGCAG	0.716													G	54974143	C	G	54974143	3	3	258	1	0	0	0	0	1	0	0	0	8725	796	28	5	876	5	LENG9	19	54974143	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	1328799	54974143	4154840	207	129037											
NLRP11	204801	broad.mit.edu	37	chr19	56307512	56307512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgttcatcccgtcgctcCtcagcggattgctggataag	11	11	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:56307512C>T	uc010ygf.1	-	8	2987	c.2276G>A	c.(2275-2277)AGG>AAG	p.R759K	NLRP11_uc002qlz.2_Missense_Mutation_p.R606K|NLRP11_uc002qmb.2_Missense_Mutation_p.R660K|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	759	LRR 3.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCCGTCGCTCCTCAGCGGATT	0.493													T	56307512	C	T	56307512	3	4	258	1	0	0	0	0	1	0	0	0	10473	681	24	4	845	4	NLRP11	19	56307512	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	1333369	56307512	2821471	208	129038											
ZNF583	147949	broad.mit.edu	37	chr19	56935080	56935080	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatacaggagagaaaccTtatgtgtgtaatgtgtgtgg	12	4	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:56935080T>C	uc010ygl.1	+	5	1218	c.1053T>C	c.(1051-1053)CCT>CCC	p.P351P	ZNF583_uc002qnc.2_Silent_p.P351P|ZNF583_uc010ygm.1_Silent_p.P351P	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	351				P -> R (in Ref. 3; AAB81088).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GAGAGAAACCTTATGTGTGTA	0.403													C	56935080	T	C	56935080	2	2	258	1	0	0	0	0	0	0	0	1	18012	1596	56	3		3	ZNF583	19	56935080	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	627568	56935080	2193903	209	129039											
PEG3	5178	broad.mit.edu	37	chr19	57335747	57335747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggatgatggtcaggtactGctcaaggaccaagagctcga	14	8	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:57335747G>T	uc002qnu.2	-	1	628	c.277C>A	c.(277-279)CAG>AAG	p.Q93K	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.Q93K|PEG3_uc002qnv.2_Missense_Mutation_p.Q93K|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.Q93K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	93	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCAGGTACTGCTCAAGGACC	0.542													T	57335747	G	T	57335747	3	4	258	1	0	0	0	0	1	0	0	0	11720	1328	46	5		5	PEG3	19	57335747	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	400667	57335747	1793236	210	129040											
ZNF134	7693	broad.mit.edu	37	chr19	58132192	58132192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggccttatgaatgcagCgaatgtggaaaaaccttcag	11	7	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr19:58132192C>T	uc002qpn.2	+	3	804	c.705C>T	c.(703-705)AGC>AGT	p.S235S	ZNF134_uc002qpo.2_Silent_p.S62S|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	235	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		ATGAATGCAGCGAATGTGGAA	0.443													T	58132192	C	T	58132192	2	4	258	1	0	0	0	0	0	0	0	1	17721	767	27	1		1	ZNF134	19	58132192	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	796445	58132192	996791	211	129041											
VPS16	64601	broad.mit.edu	37	chr20	2847197	2847197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaagattcaacgggccAgggcacaagcccagaagaag	12	11	1	4			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr20:2847197A>G	uc002whe.2	+	24	2545	c.2497A>G	c.(2497-2499)AGG>GGG	p.R833G	VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Missense_Mutation_p.R689G|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R519G|VPS16_uc002whi.2_Missense_Mutation_p.R317G	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	833					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						TCAACGGGCCAGGGCACAAGC	0.582													G	2847197	A	G	2847197	3	3	258	1	0	0	0	0	1	0	0	0	17190	179	7	3	2591	3	VPS16	20	2847197	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08		2847197	60178323	212	129042											
PLCB1	23236	broad.mit.edu	37	chr20	8665634	8665634	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggagaagaaaacggagtCgtttcacctgagaaactgga	13	6	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr20:8665634C>T	uc002wnb.2	+	10	921	c.918C>T	c.(916-918)GTC>GTT	p.V306V	PLCB1_uc010zrb.1_Silent_p.V205V|PLCB1_uc002wna.2_Silent_p.V306V|PLCB1_uc002wnc.1_Silent_p.V205V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	306					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						AAAACGGAGTCGTTTCACCTG	0.413													T	8665634	C	T	8665634	2	4	258	1	0	0	0	0	0	0	0	1	12027	871	31	1		1	PLCB1	20	8665634	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	5818437	8665634	54359886	213	129043											
SEMG1	6406	broad.mit.edu	37	chr20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaagatgtatcccaaCgcagtatttatagccaaact	7	9	0	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr20:43837052C>T	uc002xni.2	+	2	1171	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	SEMG1_uc002xnj.2_Missense_Mutation_p.R312C|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	372	58 AA repeat 2.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													T	43837052	C	T	43837052	3	4	258	1	0	0	0	0	1	0	0	0	14044	536	19	1	1120	1	SEMG1	20	43837052	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	35171418	43837052	19188468	214	129044											
TFAP2C	7022	broad.mit.edu	37	chr20	55206365	55206365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctctcccacactggagtCgccgaatatcagccgccacc	7	20	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr20:55206365C>T	uc002xya.2	+	2	396	c.153C>T	c.(151-153)GTC>GTT	p.V51V	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	51	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)	1			Colorectal(105;0.229)			ACACTGGAGTCGCCGAATATC	0.687													T	55206365	C	T	55206365	2	4	258	1	0	0	0	0	0	0	0	1	15786	871	31	1		1	TFAP2C	20	55206365	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	11369313	55206365	7819155	215	129045											
RIPK4	54101	broad.mit.edu	37	chr21	43161417	43161417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgctcgtgtgccccgtctCcgcggccacgtgcaggggtg	16	14	1	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr21:43161417C>T	uc002yzn.1	-	8	1984	c.1936G>A	c.(1936-1938)GAG>AAG	p.E646K		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	646						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						TGCCCCGTCTCCGCGGCCACG	0.692													T	43161417	C	T	43161417	3	4	258	1	0	0	0	0	1	0	0	0	13383	864	30	4	422	4	RIPK4	21	43161417	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08		43161417	4968478	216	129046											
LARGE	9215	broad.mit.edu	37	chr22	34046630	34046630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcctgggactccagcGgtgacagagacacgggcttt	15	10	0	2	rs143437080	byFrequency	TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr22:34046630G>A	uc003and.3	-	4	710	c.131C>T	c.(130-132)CCG>CTG	p.P44L	LARGE_uc003ane.3_Missense_Mutation_p.P44L|LARGE_uc010gwp.2_Missense_Mutation_p.P44L|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.P44L	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	44	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				GGACTCCAGCGGTGACAGAGA	0.632													A	34046630	G	A	34046630	3	1	258	1	0	0	0	0	1	0	0	0	8627	1116	39	1	2191	1	LARGE	22	34046630	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08		34046630	17257936	217	129047											
TEF	7008	broad.mit.edu	37	chr22	41791804	41791804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcagctaaacggtcacGggatgcccggcgcctgaaag	15	12	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr22:41791804G>A	uc003azy.2	+	4	838	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	TEF_uc003azx.2_Missense_Mutation_p.R221Q|TEF_uc011apa.1_Missense_Mutation_p.R256Q	NM_003216	NP_003207	Q10587	TEF_HUMAN	thyrotrophic embryonic factor isoform 1	251	Basic motif.				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AAACGGTCACGGGATGCCCGG	0.582													A	41791804	G	A	41791804	3	1	258	1	0	0	0	0	1	0	0	0	15747	1116	39	1	837	1	TEF	22	41791804	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	7745174	41791804	9512762	218	129048											
PKDREJ	10343	broad.mit.edu	37	chr22	46653338	46653338	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaagtagatttctgctgaaGcttttctgtcaaaatcagca	7	8	4	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr22:46653338G>C	uc003bhh.2	-	1	5882	c.5882C>G	c.(5881-5883)GCT>GGT	p.A1961G		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1961	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTCTGCTGAAGCTTTTCTGTC	0.388													C	46653338	G	C	46653338	3	2	258	1	0	0	0	0	1	0	0	0	11970	971	34	5	883	5	PKDREJ	22	46653338	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	4861534	46653338	4651228	219	129049											
CELSR1	9620	broad.mit.edu	37	chr22	46929691	46929691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcatgggccgggatgCagccgatcacgccggtgggg	20	11	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chr22:46929691C>T	uc003bhw.1	-	1	3377	c.3377G>A	c.(3376-3378)TGC>TAC	p.C1126Y		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1126	Extracellular (Potential).|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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		GGCCGGGATGCAGCCGATCAC	0.607													T	46929691	C	T	46929691	3	4	258	1	0	0	0	0	1	0	0	0	3221	710	25	2	5807	2	CELSR1	22	46929691	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	276353	46929691	4374875	220	129050											
NLGN4X	57502	broad.mit.edu	37	chrX	5811502	5811502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaacatactggaataTctcgttcaagttgtgcaaat	8	6	2	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:5811502T>C	uc010ndh.2	-	6	2308	c.1807A>G	c.(1807-1809)ATA>GTA	p.I603V	NLGN4X_uc004crp.2_Missense_Mutation_p.I623V|NLGN4X_uc004crq.2_Missense_Mutation_p.I603V|NLGN4X_uc010ndi.2_Missense_Mutation_p.I640V|NLGN4X_uc004crr.2_Missense_Mutation_p.I603V|NLGN4X_uc010ndj.2_Missense_Mutation_p.I603V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	603	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						TACTGGAATATCTCGTTCAAG	0.488													C	5811502	T	C	5811502	3	2	258	1	0	0	0	0	1	0	0	0	10464	1435	50	3	647	3	NLGN4X	23	5811502	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08		5811502	149459058	221	129051											
MAP3K15	389840	broad.mit.edu	37	chrX	19431478	19431478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttcctccttaccatTtctgtgggtgagacatgcca	8	10	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:19431478T>C	uc004czk.1	-	11	1659	c.22A>G	c.(22-24)AAT>GAT	p.N8D	MAP3K15_uc004czj.1_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	Error:Variant_position_missing_in_Q6ZN16_after_alignment							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					TCCTTACCATTTCTGTGGGTG	0.393													C	19431478	T	C	19431478	3	2	258	1	0	0	0	0	1	0	0	0	9249	1838	64	3	2322	3	MAP3K15	23	19431478	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	13619976	19431478	135839082	222	129052											
MAGEB18	286514	broad.mit.edu	37	chrX	26157428	26157428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaagatcctttaaacaAgaaagtagtgtcgctggtgc	11	6	0	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:26157428A>G	uc004dbq.1	+	2	513	c.326A>G	c.(325-327)AAG>AGG	p.K109R		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	109	MAGE.						protein binding			central_nervous_system(1)	1						CCTTTAAACAAGAAAGTAGTG	0.418													G	26157428	A	G	26157428	3	3	258	1	0	0	0	0	1	0	0	0	9175	72	3	3	328	3	MAGEB18	23	26157428	Missense_Mutation	SNP	A	TCGA-HU-8604-01A-11D-2394-08	6725950	26157428	129113132	223	129053											
MAGEB6	158809	broad.mit.edu	37	chrX	26212528	26212528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagccatcatttttaagCgcttaagcaaagatgctgta	8	7	1	2	rs142927857		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:26212528C>T	uc004dbr.2	+	2	714	c.565C>T	c.(565-567)CGC>TGC	p.R189C	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	189										ovary(3)	3						CATTTTTAAGCGCTTAAGCAA	0.468													T	26212528	C	T	26212528	3	4	258	1	0	0	0	0	1	0	0	0	9179	768	27	1	567	1	MAGEB6	23	26212528	Missense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	55100	26212528	129058032	224	129054											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998645	27998645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatatgatgcattaattagTtctgctacccgtacctgtcc	6	11	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:27998645T>C	uc004dbx.1	-	1	922	c.807A>G	c.(805-807)GAA>GAG	p.E269E		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	269	WD 2.									ovary(3)|skin(1)	4						CATTAATTAGTTCTGCTACCC	0.493													C	27998645	T	C	27998645	2	2	258	1	0	0	0	0	0	0	0	1	4277	1722	60	3		3	DCAF8L1	23	27998645	Silent	SNP	T	TCGA-HU-8604-01A-11D-2394-08	1786117	27998645	127271915	225	129055											
MAGEB2	4113	broad.mit.edu	37	chrX	30237209	30237209	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccttgagctgaataaagTcaaccccaacggccacactt	8	13	1	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:30237209T>G	uc004dbz.2	+	2	615	c.512T>G	c.(511-513)GTC>GGC	p.V171G		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	171	MAGE.						protein binding			ovary(1)	1						CTGAATAAAGTCAACCCCAAC	0.502													G	30237209	T	G	30237209	3	3	258	1	0	0	0	0	1	0	0	0	9176	1667	58	5	514	5	MAGEB2	23	30237209	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	2238564	30237209	125033351	226	129056											
DMD	1756	broad.mit.edu	37	chrX	31893328	31893328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcaaatggtccttcttGgtttggttggttataaattt	9	5	2	0			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:31893328G>T	uc004dda.1	-	48	7319	c.7075C>A	c.(7075-7077)CAA>AAA	p.Q2359K	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.Q1015K|DMD_uc004dcx.2_Missense_Mutation_p.Q1018K|DMD_uc004dcz.2_Missense_Mutation_p.Q2236K|DMD_uc004dcy.1_Missense_Mutation_p.Q2355K|DMD_uc004ddb.1_Missense_Mutation_p.Q2351K|DMD_uc010ngn.1_RNA	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2359			Missing (in DMD).		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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				GGTCCTTCTTGGTTTGGTTGG	0.333													T	31893328	G	T	31893328	3	4	258	1	0	0	0	0	1	0	0	0	4580	1357	47	5	4258	5	DMD	23	31893328	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	1656119	31893328	123377232	227	129057											
MAGEB16	139604	broad.mit.edu	37	chrX	35820607	35820607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagatagtccaagctcCtcagaggatacatcagaccc	10	11	2	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:35820607C>T	uc010ngt.1	+	2	573	c.294C>T	c.(292-294)TCC>TCT	p.S98S		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	98										lung(3)|ovary(2)|breast(1)|skin(1)	7						GTCCAAGCTCCTCAGAGGATA	0.478													T	35820607	C	T	35820607	2	4	258	1	0	0	0	0	0	0	0	1	9174	668	24	4		4	MAGEB16	23	35820607	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	3927279	35820607	119449953	228	129058											
BCOR	54880	broad.mit.edu	37	chrX	39933151	39933151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagatagtgtttctttcGgaatctcacttccggagagc	12	8	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:39933151G>A	uc004den.3	-	4	1740	c.1448C>T	c.(1447-1449)CCG>CTG	p.P483L	BCOR_uc004dep.3_Missense_Mutation_p.P483L|BCOR_uc004deo.3_Missense_Mutation_p.P483L|BCOR_uc004dem.3_Missense_Mutation_p.P483L|BCOR_uc004deq.3_Missense_Mutation_p.P483L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	483					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						TGTTTCTTTCGGAATCTCACT	0.517													A	39933151	G	A	39933151	3	1	258	1	0	0	0	0	1	0	0	0	1386	1116	39	1	3867	1	BCOR	23	39933151	Missense_Mutation	SNP	G	TCGA-HU-8604-01A-11D-2394-08	4112544	39933151	115337409	229	129059											
CHST7	56548	broad.mit.edu	37	chrX	46433819	46433819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccgagagcttgcagggCgcgctgcgcgacatgctgcg	17	13	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:46433819C>T	uc004dgt.2	+	1	628	c.453C>T	c.(451-453)GGC>GGT	p.G151G		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	151	Lumenal (Potential).				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)	3						GCTTGCAGGGCGCGCTGCGCG	0.507													T	46433819	C	T	46433819	2	4	258	1	0	0	0	0	0	0	0	1	3409	755	27	1		1	CHST7	23	46433819	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	6500668	46433819	108836741	230	129060											
EBP	10682	broad.mit.edu	37	chrX	48386665	48386665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcctgacagagcaccgCgacggattccagcacggaga	11	13	0	3	rs147786080		TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:48386665C>T	uc004djx.3	+	5	718	c.513C>T	c.(511-513)CGC>CGT	p.R171R	EBP_uc004djy.3_Silent_p.R171R|EBP_uc004djz.2_Silent_p.R171R	NM_006579	NP_006570	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	171					cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			ovary(1)	1						CAGAGCACCGCGACGGATTCC	0.582													T	48386665	C	T	48386665	2	4	258	1	0	0	0	0	0	0	0	1	4886	755	27	1		1	EBP	23	48386665	Silent	SNP	C	TCGA-HU-8604-01A-11D-2394-08	1952846	48386665	106883895	231	129061											
PRICKLE3	4007	broad.mit.edu	37	chrX	49032238	49032238	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggagggcgagctggagcaAgattccgagtctgaccctga	15	10	1	3			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:49032238A>C	uc004dmy.1	-	9	1658	c.1632T>G	c.(1630-1632)TCT>TCG	p.S544S	PRICKLE3_uc011mmv.1_Silent_p.S476S|PRICKLE3_uc011mmw.1_Silent_p.S463S|PRICKLE3_uc011mmx.1_Silent_p.S506S	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	544	Poly-Ser.						protein binding|zinc ion binding			breast(1)	1						AGCTGGAGCAAGATTCCGAGT	0.502													C	49032238	A	C	49032238	2	2	258	1	0	0	0	0	0	0	0	1	12488	59	3	5		5	PRICKLE3	23	49032238	Silent	SNP	A	TCGA-HU-8604-01A-11D-2394-08	645573	49032238	106238322	232	129062											
ITIH5L	347365	broad.mit.edu	37	chrX	54785377	54785377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctcccaggctcctggTtgctatggttcagcactgaa	11	14	1	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:54785377T>G	uc004dtj.2	-	8	1160	c.1130A>C	c.(1129-1131)AAC>ACC	p.N377T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	377	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						AGGCTCCTGGTTGCTATGGTT	0.577													G	54785377	T	G	54785377	3	3	258	1	0	0	0	0	1	0	0	0	7908	1725	60	5	2835	5	ITIH5L	23	54785377	Missense_Mutation	SNP	T	TCGA-HU-8604-01A-11D-2394-08	5753139	54785377	100485183	233	129063											
OGT	8473	broad.mit.edu	37	chrX	70767789	70767789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcaattgagacgcaaccGaactttgcagtagcttggag	11	8	0	1			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:70767789G>A	uc004eaa.1	+	5	781	c.564G>A	c.(562-564)CCG>CCA	p.P188P	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.P178P|OGT_uc004eac.2_Silent_p.P49P|OGT_uc004ead.2_5'UTR	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	188	TPR 4.				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			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					AGACGCAACCGAACTTTGCAG	0.393													A	70767789	G	A	70767789	2	1	258	1	0	0	0	0	0	0	0	1	10847	1045	37	1		1	OGT	23	70767789	Silent	SNP	G	TCGA-HU-8604-01A-11D-2394-08	15982412	70767789	84502771	234	129064											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104478507	104478507	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctctgttcctacagaaactCaacatattgcatgaaggtgt	7	9	2	2			TCGA-HU-8604-01A-11D-2394-08	TCGA-HU-8604-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ffbf151-e573-440e-8950-6f3404f84402	61ee42d5-0a9d-4c64-a20a-93bfcdba7a11	g.chrX:104478507C>A	uc004elz.1	+	4	1118	c.362C>A	c.(361-363)TCA>TAA	p.S121*		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	121	Ig-like C2-type 1.|Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TACAGAAACTCAACATATTGC	0.373													A	104478507	C	A	104478507	4	1	258	1	0	0	0	0	0	1	0	0	7662	838	29	5	372	5	IL1RAPL2	23	104478507	Nonsense_Mutation	SNP	C	TCGA-HU-8604-01A-11D-2394-08	33710718	104478507	50792053	235	129065											
PRDM16	63976	broad.mit.edu	37	chr1	3319509	3319509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggccttggcggtggcagCggccaagcccacgagtgcaa	17	12	0	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:3319509C>T	uc001akf.2	+	6	911	c.831C>T	c.(829-831)AGC>AGT	p.S277S	PRDM16_uc001akc.2_Silent_p.S277S|PRDM16_uc001akd.2_Silent_p.S277S|PRDM16_uc001ake.2_Silent_p.S277S|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	277					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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		GCGGTGGCAGCGGCCAAGCCC	0.567			T	EVI1	MDS|AML								T	3319509	C	T	3319509	2	4	259	1	0	0	0	0	0	0	0	1	12457	767	27	1		1	PRDM16	1	3319509	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08		3319509	245931112	1	129066											
ARID1A	8289	broad.mit.edu	37	chr1	27023420	27023420	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaacaacatggcggaCaacaaagccctggcctggca	9	15	0	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:27023420C>T	uc001bmv.1	+	1	899	c.526C>T	c.(526-528)CAA>TAA	p.Q176*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q176*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q176*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	176					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		ACATGGCGGACAACAAAGCCC	0.731			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27023420	C	T	27023420	4	4	259	1	0	0	0	0	0	1	0	0	913	479	17	4	528	4	ARID1A	1	27023420	Nonsense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	23703911	27023420	222227201	2	129067											
SFPQ	6421	broad.mit.edu	37	chr1	35657111	35657111	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctccaggcctcctcaagagaGacaaattggctttaaacccc	7	14	1	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:35657111G>C	uc001bys.2	-	2	941	c.848C>G	c.(847-849)TCT>TGT	p.S283C	SFPQ_uc001byr.2_5'Flank	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	283					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|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCTCAAGAGAGACAAATTGGC	0.408			T	TFE3	papillary renal cell								C	35657111	G	C	35657111	3	2	259	1	0	0	0	0	1	0	0	0	14160	942	33	5	1311	5	SFPQ	1	35657111	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	8633691	35657111	213593510	3	129068											
ZYG11B	79699	broad.mit.edu	37	chr1	53261986	53261986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcagccaagcttgtcAtgcagtggctttgcaaccat	10	10	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:53261986A>G	uc001cuj.2	+	7	1552	c.1357A>G	c.(1357-1359)ATG>GTG	p.M453V	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.M444V|ZYG11B_uc009vzh.2_5'Flank	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	453							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CAAGCTTGTCATGCAGTGGCT	0.448													G	53261986	A	G	53261986	3	3	259	1	0	0	0	0	1	0	0	0	18250	217	8	3	1383	3	ZYG11B	1	53261986	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	17604875	53261986	195988635	4	129069											
SPAG17	200162	broad.mit.edu	37	chr1	118581983	118581983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatcccctttctcttccTttttcacaatttccttaggg	3	12	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:118581983T>C	uc001ehk.2	-	23	3319	c.3251A>G	c.(3250-3252)AAG>AGG	p.K1084R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1084						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		TTTCTCTTCCTTTTTCACAAT	0.378													C	118581983	T	C	118581983	3	2	259	1	0	0	0	0	1	0	0	0	14979	1609	56	3	3524	3	SPAG17	1	118581983	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	65319997	118581983	130668638	5	129070											
TCHH	7062	broad.mit.edu	37	chr1	152084596	152084596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcctcctcctgctcgCgcctcagctgctgctcgcgc	9	21	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:152084596C>T	uc001ezp.2	-	2	1097	c.1097G>A	c.(1096-1098)CGC>CAC	p.R366H	TCHH_uc009wne.1_Missense_Mutation_p.R366H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	366	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-5.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcctgctcgcgcctcagctg	0													T	152084596	C	T	152084596	3	4	259	1	0	0	0	0	1	0	0	0	15697	768	27	1	4738	1	TCHH	1	152084596	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	33502613	152084596	97166025	6	129071											
RNASEL	6041	broad.mit.edu	37	chr1	182555204	182555204	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtgcttcttctccacTgccaggatcaggggagtctt	10	13	4	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:182555204T>G	uc001gpj.1	-	1	905	c.738A>C	c.(736-738)GCA>GCC	p.A246A	RNASEL_uc009wxz.1_Silent_p.A246A|RNASEL_uc001gpk.2_Silent_p.A246A|RNASEL_uc009wya.1_Silent_p.A246A	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	246	ANK 7.				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			ovary(4)|stomach(1)	5						TCTTCTCCACTGCCAGGATCA	0.517									Hereditary_Prostate_Cancer				G	182555204	T	G	182555204	2	3	259	1	0	0	0	0	0	0	0	1	13416	1567	55	5		5	RNASEL	1	182555204	Silent	SNP	T	TCGA-HU-8608-01A-11D-2394-08	30470608	182555204	66695417	7	129072											
FAM5C	339479	broad.mit.edu	37	chr1	190067820	190067820	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcatatggaccagacttgaCttgtacttattgctcttcaa	6	9	3	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:190067820C>G	uc001gse.1	-	8	1861	c.1629G>C	c.(1627-1629)AAG>AAC	p.K543N	FAM5C_uc010pot.1_Missense_Mutation_p.K441N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	543						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CCAGACTTGACTTGTACTTAT	0.448													G	190067820	C	G	190067820	3	3	259	1	0	0	0	0	1	0	0	0	5594	564	20	5	675	5	FAM5C	1	190067820	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	7512616	190067820	59182801	8	129073											
OBSCN	84033	broad.mit.edu	37	chr1	228469665	228469665	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcatcaccaagaggctgaaGacaatggaggtgctggaagg	16	7	1	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr1:228469665G>A	uc009xez.1	+	31	8273	c.8229G>A	c.(8227-8229)AAG>AAA	p.K2743K	OBSCN_uc001hsn.2_Silent_p.K2743K|OBSCN_uc001hsp.1_Silent_p.K442K|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2743	Ig-like 27.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGAGGCTGAAGACAATGGAGG	0.617													A	228469665	G	A	228469665	2	1	259	1	0	0	0	0	0	0	0	1	10812	933	33	4		4	OBSCN	1	228469665	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08	38401845	228469665	20780956	9	129074											
ROCK2	9475	broad.mit.edu	37	chr2	11427816	11427816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctatgttcttgtttttcCtcaaagcaggaaaatctaaa	5	7	4	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:11427816C>T	uc002rbd.1	-	2	637	c.188G>A	c.(187-189)AGG>AAG	p.R63K		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	63					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTGTTTTTCCTCAAAGCAGG	0.279													T	11427816	C	T	11427816	3	4	259	1	0	0	0	0	1	0	0	0	13518	681	24	4	4106	4	ROCK2	2	11427816	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08		11427816	231771557	10	129075											
ZNF514	84874	broad.mit.edu	37	chr2	95815288	95815288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcccggcattcatagggCttttctccagtatgagtcct	8	12	2	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:95815288C>T	uc002sue.1	-	5	1316	c.942G>A	c.(940-942)AAG>AAA	p.K314K	ZNF514_uc002sud.1_Silent_p.K387K	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTCATAGGGCTTTTCTCCAG	0.428													T	95815288	C	T	95815288	2	4	259	1	0	0	0	0	0	0	0	1	17956	796	28	2		2	ZNF514	2	95815288	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08	84387472	95815288	147384085	11	129076											
FBLN7	129804	broad.mit.edu	37	chr2	112940381	112940381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagacgtgaacgagtgTgagctctacgggcaggaggg	17	8	2	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:112940381T>C	uc002tho.1	+	6	955	c.684T>C	c.(682-684)TGT>TGC	p.C228C	FBLN7_uc002thn.2_Silent_p.C228C|FBLN7_uc010fki.1_Silent_p.C182C|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	228	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TGAACGAGTGTGAGCTCTACG	0.592													C	112940381	T	C	112940381	2	2	259	1	0	0	0	0	0	0	0	1	5701	1702	59	3		3	FBLN7	2	112940381	Silent	SNP	T	TCGA-HU-8608-01A-11D-2394-08	17125093	112940381	130258992	12	129077											
NR4A2	4929	broad.mit.edu	37	chr2	157184976	157184976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtactgacagcgattccGgcgacgcttgtccactgggc	13	13	0	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:157184976G>A	uc002tyz.3	-	4	1356	c.934C>T	c.(934-936)CGG>TGG	p.R312W	NR4A2_uc002tyx.3_Missense_Mutation_p.R249W|NR4A2_uc010zcf.1_Missense_Mutation_p.R312W|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	312	NR C4-type.|Nuclear receptor.				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			ovary(3)	3						CAGCGATTCCGGCGACGCTTG	0.493													A	157184976	G	A	157184976	3	1	259	1	0	0	0	0	1	0	0	0	10633	1115	39	1	882	1	NR4A2	2	157184976	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	44244595	157184976	86014397	13	129078											
TTN	7273	broad.mit.edu	37	chr2	179438575	179438575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtataggcaccactatccCttcttgttgaatctttgttt	8	9	2	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:179438575C>A	uc010zfg.1	-	275	64804	c.64580G>T	c.(64579-64581)AGG>ATG	p.R21527M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15222M|TTN_uc010zfi.1_Missense_Mutation_p.R15155M|TTN_uc010zfj.1_Missense_Mutation_p.R15030M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22454							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACTATCCCTTCTTGTTGA	0.413													A	179438575	C	A	179438575	3	1	259	1	0	0	0	0	1	0	0	0	16732	681	24	5	35843	5	TTN	2	179438575	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	22253599	179438575	63760798	14	129079											
FAM171B	165215	broad.mit.edu	37	chr2	187611822	187611822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttccttttttccagatgCcaagtctcaaccaagtgttc	7	11	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:187611822C>T	uc002ups.2	+	4	681	c.569C>T	c.(568-570)GCC>GTC	p.A190V	FAM171B_uc002upr.1_Missense_Mutation_p.A190V	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	190	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						TTTCCAGATGCCAAGTCTCAA	0.353													T	187611822	C	T	187611822	3	4	259	1	0	0	0	0	1	0	0	0	5491	739	26	2	583	2	FAM171B	2	187611822	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	8173247	187611822	55587551	15	129080											
STAT1	6772	broad.mit.edu	37	chr2	191843630	191843630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgaatgtgatggccccttCccgggagctctcactgaacc	11	13	1	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:191843630C>T	uc002usj.2	-	21	2213	c.1825G>A	c.(1825-1827)GAA>AAA	p.E609K	STAT1_uc010fse.1_Missense_Mutation_p.E609K|STAT1_uc002usk.2_Missense_Mutation_p.E609K|STAT1_uc002usl.2_Missense_Mutation_p.E611K	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	609	SH2.				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			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATGGCCCCTTCCCGGGAGCTC	0.602													T	191843630	C	T	191843630	3	4	259	1	0	0	0	0	1	0	0	0	15263	864	30	4	451	4	STAT1	2	191843630	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	4231808	191843630	51355743	16	129081											
DNAH7	56171	broad.mit.edu	37	chr2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccagtgcctggggcGcaaaccaggattacagatca	12	13	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:196825327G>A	uc002utj.3	-	18	2649	c.2548C>T	c.(2548-2550)CGC>TGC	p.R850C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGCCTGGGGCGCAAACCAGGA	0.453													A	196825327	G	A	196825327	3	1	259	1	0	0	0	0	1	0	0	0	4606	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	4981697	196825327	46374046	17	129082											
ALS2CR8	79800	broad.mit.edu	37	chr2	203846292	203846292	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttaggaaattcaccaggaGaatcaattaccaccaaagtg	7	8	2	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:203846292G>T	uc002uzo.2	+	14	1853	c.1573G>T	c.(1573-1575)GAA>TAA	p.E525*	ALS2CR8_uc010zia.1_Nonsense_Mutation_p.E449*|ALS2CR8_uc010zib.1_Nonsense_Mutation_p.E449*|ALS2CR8_uc010zic.1_Nonsense_Mutation_p.E437*|ALS2CR8_uc002uzp.2_Nonsense_Mutation_p.E525*	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	525										large_intestine(1)|ovary(1)	2						TTCACCAGGAGAATCAATTAC	0.348													T	203846292	G	T	203846292	4	4	259	1	0	0	0	0	0	1	0	0	555	943	33	5	1619	5	ALS2CR8	2	203846292	Nonsense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	7020965	203846292	39353081	18	129083											
SLC11A1	6556	broad.mit.edu	37	chr2	219251382	219251382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaccgtcctctggctgAccatcgagctagccattgtg	10	16	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr2:219251382A>G	uc002vhv.2	+	5	758	c.418A>G	c.(418-420)ACC>GCC	p.T140A	SLC11A1_uc010zkb.1_Nonstop_Mutation_p.*164W|SLC11A1_uc010fvp.1_Missense_Mutation_p.T140A|SLC11A1_uc010fvq.1_Missense_Mutation_p.T73A|SLC11A1_uc010zkc.1_Missense_Mutation_p.T73A|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Missense_Mutation_p.T22A|SLC11A1_uc010fvr.2_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	140	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)	4		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)		CCTCTGGCTGACCATCGAGCT	0.567													G	219251382	A	G	219251382	3	3	259	1	0	0	0	0	1	0	0	0	14380	275	10	3	436	3	SLC11A1	2	219251382	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	15405090	219251382	23947991	19	129084											
LAMB2	3913	broad.mit.edu	37	chr3	49160321	49160321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgccagtgcccgctgCagctctgcctgtgtgtgccg	12	16	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr3:49160321C>A	uc003cwe.2	-	27	4688	c.4389G>T	c.(4387-4389)CTG>CTT	p.L1463L	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1463	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGCCCGCTGCAGCTCTGCCT	0.682													A	49160321	C	A	49160321	2	1	259	1	0	0	0	0	0	0	0	1	8611	697	25	5		5	LAMB2	3	49160321	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08		49160321	148862109	20	129085											
CCDC36	339834	broad.mit.edu	37	chr3	49249271	49249272	+	Splice_Site	INS	-	-	TAAGT													tattccttcaggctctgggtINSaagttttctggttatattgt							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr3:49249270_49249271G>GTAAGT	uc003cwk.2	+	4	443	c.56_splice	c.e4+1	p.G19_splice	CCDC36_uc003cwl.4_Splice_Site_p.G19_splice|CCDC36_uc011bck.1_Splice_Site_p.G19_splice|CCDC36_uc010hkt.2_Splice_Site	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	19										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGGCTCTGGGTAAGTTTTCTG	0.401													TAAGT	49249272	-	TAAGT	49249271	8	5	259	1	0	1	1	0	0	0	1	0	2808	1652	57	0	60	0	CCDC36	3	49249271	Splice_Site	INS	-	TCGA-HU-8608-01A-11D-2394-08	88950	49249271	148773159	21	129086											
ABHD10	55347	broad.mit.edu	37	chr3	111700750	111700750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctggctatctttcttatAtgaatggtacaaaagcgttg	8	8	2	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr3:111700750A>G	uc003dyk.3	+	2	343	c.262A>G	c.(262-264)ATG>GTG	p.M88V	ABHD10_uc011bhq.1_Intron	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	88						mitochondrion	serine-type peptidase activity				0						TCTTTCTTATATGAATGGTAC	0.403													G	111700750	A	G	111700750	3	3	259	1	0	0	0	0	1	0	0	0	74	449	16	3	268	3	ABHD10	3	111700750	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	62451479	111700750	86321680	22	129087											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	8	7	0	3	rs121913284		TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr3:178921553T>A	uc003fjk.2	+	5	1192	c.1035T>A	c.(1033-1035)AAT>AAA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	345					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.N345K(29)|p.N345I(2)|p.N345S(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921553	T	A	178921553	3	1	259	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	67220803	178921553	19100877	23	129088											
PIK3CA	5290	broad.mit.edu	37	chr3	178922324	178922324	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggtatctaccatggaggaGaacccttatgtgacaatgtg	11	8	1	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr3:178922324G>A	uc003fjk.2	+	6	1250	c.1093G>A	c.(1093-1095)GAA>AAA	p.E365K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	365	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.E365K(2)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			CCATGGAGGAGAACCCTTATG	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178922324	G	A	178922324	3	1	259	1	0	0	0	0	1	0	0	0	11913	943	33	4	1111	4	PIK3CA	3	178922324	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	771	178922324	19100106	24	129089											
MFSD10	10227	broad.mit.edu	37	chr4	2934131	2934131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaagatgaacagcaggtCggaggctgcgaagagcaggg	18	7	0	4			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr4:2934131C>T	uc003gfw.2	-	5	954	c.640G>A	c.(640-642)GAC>AAC	p.D214N	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Missense_Mutation_p.D38N|MFSD10_uc003gfz.2_Missense_Mutation_p.D214N|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.D214N|MFSD10_uc003ggb.1_Missense_Mutation_p.D214N|MFSD10_uc003ggc.2_Missense_Mutation_p.D214N|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	214	Helical; (Potential).				apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACAGCAGGTCGGAGGCTGCG	0.642													T	2934131	C	T	2934131	3	4	259	1	0	0	0	0	1	0	0	0	9528	884	31	1	759	1	MFSD10	4	2934131	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08		2934131	188220145	25	129090											
HERC6	55008	broad.mit.edu	37	chr4	89317276	89317276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaattgatggcctagtttCgcagatagattgtggaaggt	13	4	0	4			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr4:89317276C>T	uc011cdi.1	+	6	1052	c.869C>T	c.(868-870)TCG>TTG	p.S290L	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.S290L|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	290	RCC1 5.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGCCTAGTTTCGCAGATAGAT	0.403													T	89317276	C	T	89317276	3	4	259	1	0	0	0	0	1	0	0	0	7062	893	31	1	688	1	HERC6	4	89317276	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	86383145	89317276	101837000	26	129091											
PDE5A	8654	broad.mit.edu	37	chr4	120440291	120440292	+	Frame_Shift_Ins	INS	-	-	TG													atctccaggtcagtcagcttINSgttctgcatgaccaaagaca							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr4:120440290_120440291T>TTG	uc003idh.3	-	13	2064_2065	c.1909_1910A>CAA	c.(1909-1911)aagfs	p.K637fs	PDE5A_uc003idf.3_Frame_Shift_Ins_p.K595fs|PDE5A_uc003idg.3_Frame_Shift_Ins_p.K585fs|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	637	Catalytic (By similarity).				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)	GTCAGTCAGCTTGTTCTGCATG	0.406													TG	120440292	-	TG	120440291	7	5	259	1	0	1	1	0	0	0	0	0	11644	1821	63	0	750	0	PDE5A	4	120440291	Frame_Shift_Ins	INS	-	TCGA-HU-8608-01A-11D-2394-08	31123015	120440291	70713985	27	129092											
SLC25A31	83447	broad.mit.edu	37	chr4	128651788	128651788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctggccggcggagtcGcggcagctgtgtccaagaca	14	13	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr4:128651788G>A	uc003ifl.2	+	1	234	c.88G>A	c.(88-90)GCG>ACG	p.A30T		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	30	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						CGGCGGAGTCGCGGCAGCTGT	0.622													A	128651788	G	A	128651788	3	1	259	1	0	0	0	0	1	0	0	0	14495	1087	38	1	90	1	SLC25A31	4	128651788	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	8211497	128651788	62502488	28	129093											
RAPGEF2	9693	broad.mit.edu	37	chr4	160259464	160259464	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattttcctctttgttcagtGatattgggattggtcagtct	9	6	4	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr4:160259464G>A	uc003iqg.3	+	12	1964	c.1654G>A	c.(1654-1656)GAT>AAT	p.D552N		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	552					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			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTGTTCAGTGATATTGGGAT	0.353													A	160259464	G	A	160259464	3	1	259	1	0	0	0	0	1	0	0	0	13044	1304	45	4	1700	4	RAPGEF2	4	160259464	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	31607676	160259464	30894812	29	129094											
ANKRD32	84250	broad.mit.edu	37	chr5	94027907	94027907	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acggggtgactcctttgcatGatgcactgtcaaacggacat	11	10	1	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr5:94027907G>A	uc003kkr.3	+	20	2721	c.2641G>A	c.(2641-2643)GAT>AAT	p.D881N	ANKRD32_uc003kks.2_Missense_Mutation_p.D245N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	881	ANK 3.									ovary(2)	2		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)		TCCTTTGCATGATGCACTGTC	0.448													A	94027907	G	A	94027907	3	1	259	1	0	0	0	0	1	0	0	0	660	1290	45	4	2715	4	ANKRD32	5	94027907	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08		94027907	86887353	30	129095											
SLCO6A1	133482	broad.mit.edu	37	chr5	101774450	101774450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agctaggcatatgagcactgGattcttcatcagaatctgaa	9	8	4	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr5:101774450G>T	uc003knn.2	-	7	1319	c.1147C>A	c.(1147-1149)CCA>ACA	p.P383T	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.P383T|SLCO6A1_uc003knq.2_Missense_Mutation_p.P321T	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	383	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		ATGAGCACTGGATTCTTCATC	0.264													T	101774450	G	T	101774450	3	4	259	1	0	0	0	0	1	0	0	0	14732	1174	41	5	1040	5	SLCO6A1	5	101774450	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	7746543	101774450	79140810	31	129096											
DNAJC18	202052	broad.mit.edu	37	chr5	138758403	138758403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataccagacttacgatttaTagaacagactatatggggga	9	6	0	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr5:138758403T>C	uc003len.2	-	6	778	c.773A>G	c.(772-774)TAT>TGT	p.Y258C	DNAJC18_uc010jff.2_Missense_Mutation_p.Y196C	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	258					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTACGATTTATAGAACAGACT	0.363													C	138758403	T	C	138758403	3	2	259	1	0	0	0	0	1	0	0	0	4637	1406	49	3	315	3	DNAJC18	5	138758403	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	36983953	138758403	42156857	32	129097											
PCDHA13	56136	broad.mit.edu	37	chr5	140263899	140263899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggcttcgtcgagggcGtcggcaggcgctgtgggtcc	17	13	0	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr5:140263899G>A	uc003lif.2	+	1	2046	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A682A|PCDHA13_uc003lid.2_Silent_p.A682A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGAGGGCGTCGGCAGGCG	0.642													A	140263899	G	A	140263899	2	1	259	1	0	0	0	0	0	0	0	1	11523	1132	40	1		1	PCDHA13	5	140263899	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08	1505496	140263899	40651361	33	129098											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789875	140789875	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggccttaatctcagtgctCttcctcctcgccgtgattct	7	14	3	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr5:140789875C>G	uc003lkj.1	+	1	2106	c.2106C>G	c.(2104-2106)CTC>CTG	p.L702L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.L702L|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	702	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAGTGCTCTTCCTCCTCG	0.577													G	140789875	C	G	140789875	2	3	259	1	0	0	0	0	0	0	0	1	11567	900	32	5		5	PCDHGB6	5	140789875	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08	525976	140789875	40125385	34	129099											
NR3C1	2908	broad.mit.edu	37	chr5	142693630	142693630	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagactccataatgacatcCtgaagcttcatcagagcaca	6	11	2	4			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr5:142693630C>A	uc003lmz.2	-	3	1780	c.1288G>T	c.(1288-1290)GGA>TGA	p.G430*	NR3C1_uc003lmy.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lna.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lnb.2_Nonsense_Mutation_p.G430*|NR3C1_uc011dbk.1_Nonsense_Mutation_p.G33*|NR3C1_uc003lnc.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lnd.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lne.2_Nonsense_Mutation_p.G430*|NR3C1_uc003lnf.2_Nonsense_Mutation_p.G430*	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	430	NR C4-type.|Nuclear receptor.				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			ovary(2)	2		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)	TAATGACATCCTGAAGCTTCA	0.448													A	142693630	C	A	142693630	4	1	259	1	0	0	0	0	0	1	0	0	10630	690	24	5	1128	5	NR3C1	5	142693630	Nonsense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	1903755	142693630	38221630	35	129100											
FAM184A	79632	broad.mit.edu	37	chr6	119324198	119324198	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagccttaactcttcacgaaGtttagaacactcttgtctaa	5	10	4	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr6:119324198G>C	uc003pyj.2	-	9	2302	c.1954C>G	c.(1954-1956)CTT>GTT	p.L652V	FAM184A_uc003pyk.3_Missense_Mutation_p.L532V|FAM184A_uc003pyl.3_Missense_Mutation_p.L532V	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	652	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						TCTTCACGAAGTTTAGAACAC	0.353													C	119324198	G	C	119324198	3	2	259	1	0	0	0	0	1	0	0	0	5511	1029	36	5	1508	5	FAM184A	6	119324198	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08		119324198	51790869	36	129101											
KIAA1244	57221	broad.mit.edu	37	chr6	138640958	138640958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgccaatttcaagcaCgctattggtctgtcctgtga	9	12	3	1	rs145838885		TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr6:138640958C>T	uc003qhu.2	+	28	4593	c.4593C>T	c.(4591-4593)CAC>CAT	p.H1531H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1531					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATTTCAAGCACGCTATTGGTC	0.498													T	138640958	C	T	138640958	2	4	259	1	0	0	0	0	0	0	0	1	8217	535	19	1		1	KIAA1244	6	138640958	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08	19316760	138640958	32474109	37	129102											
MLLT4	4301	broad.mit.edu	37	chr6	168323587	168323587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggtacttggacaatatAttttgaaggtgcagattatg	10	5	0	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr6:168323587A>G	uc003qwd.2	+	21	3078	c.2936A>G	c.(2935-2937)TAT>TGT	p.Y979C	MLLT4_uc003qwb.1_Missense_Mutation_p.Y964C|MLLT4_uc003qwc.1_Missense_Mutation_p.Y980C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y289C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	980					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		TGGACAATATATTTTGAAGGT	0.408			T	MLL	AL								G	168323587	A	G	168323587	3	3	259	1	0	0	0	0	1	0	0	0	9629	449	16	3	3021	3	MLLT4	6	168323587	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	29682629	168323587	2791480	38	129103											
USP42	84132	broad.mit.edu	37	chr7	6150918	6150918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtgtcaaatcacacaCtttctttaggaccagtacct	6	10	3	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr7:6150918C>T	uc011jwo.1	+	2	277	c.154C>T	c.(154-156)CTT>TTT	p.L52F	USP42_uc011jwn.1_5'UTR|USP42_uc010kth.1_Missense_Mutation_p.L52F|USP42_uc011jwp.1_Missense_Mutation_p.L52F|USP42_uc011jwq.1_5'UTR	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	52					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AAATCACACACTTTCTTTAGG	0.463													T	6150918	C	T	6150918	3	4	259	1	0	0	0	0	1	0	0	0	17070	565	20	4	156	4	USP42	7	6150918	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08		6150918	152987745	39	129104											
CTTNBP2	83992	broad.mit.edu	37	chr7	117365228	117365228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgtctgcccaaagccaGgttgtcttttcacagaggct	10	11	3	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr7:117365228G>A	uc003vjf.2	-	18	4231	c.4139C>T	c.(4138-4140)CCT>CTT	p.P1380L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1380										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCCAAAGCCAGGTTGTCTTTT	0.498													A	117365228	G	A	117365228	3	1	259	1	0	0	0	0	1	0	0	0	4045	1000	35	4	876	4	CTTNBP2	7	117365228	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	111214310	117365228	41773435	40	129105											
KCND2	3751	broad.mit.edu	37	chr7	120382625	120382625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgaaacccagcaccAccacctgcttcactgcctgg	7	17	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr7:120382625A>G	uc003vjj.1	+	4	2401	c.1436A>G	c.(1435-1437)CAC>CGC	p.H479R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	479	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					ACCCAGCACCACCACCTGCTT	0.453													G	120382625	A	G	120382625	3	3	259	1	0	0	0	0	1	0	0	0	8019	159	6	3	1450	3	KCND2	7	120382625	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	3017397	120382625	38756038	41	129106											
CSMD1	64478	broad.mit.edu	37	chr8	3087702	3087702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctgctgtctccatagCgggtgccattttggggcata	11	12	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr8:3087702C>T	uc011kwk.1	-	27	4598	c.4208G>A	c.(4207-4209)CGC>CAC	p.R1403H	CSMD1_uc011kwj.1_Missense_Mutation_p.R795H|CSMD1_uc003wqe.2_Missense_Mutation_p.R559H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1403	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCTCCATAGCGGGTGCCATT	0.522													T	3087702	C	T	3087702	3	4	259	1	0	0	0	0	1	0	0	0	3944	768	27	1	6665	1	CSMD1	8	3087702	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08		3087702	143276320	42	129107											
PREX2	80243	broad.mit.edu	37	chr8	68965375	68965375	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgttgttaatggatggaaGatacataacacagcaaaaaa	8	4	0	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr8:68965375G>A	uc003xxv.1	+	9	1014	c.987G>A	c.(985-987)AAG>AAA	p.K329K	PREX2_uc003xxu.1_Silent_p.K329K|PREX2_uc011lez.1_Silent_p.K264K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	329	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATGGATGGAAGATACATAACA	0.323													A	68965375	G	A	68965375	2	1	259	1	0	0	0	0	0	0	0	1	12477	933	33	4		4	PREX2	8	68965375	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08	65877673	68965375	77398647	43	129108											
ZFHX4	79776	broad.mit.edu	37	chr8	77618345	77618345	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgagccgggtggctcttgTgtttattgtaagactggaca	13	8	1	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr8:77618345T>A	uc003yav.2	+	2	2409	c.2022T>A	c.(2020-2022)TGT>TGA	p.C674*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.C674*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.C674*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.C674*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	674						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGCTCTTGTGTTTATTGTA	0.498										HNSCC(33;0.089)			A	77618345	T	A	77618345	4	1	259	1	0	0	0	0	0	1	0	0	17632	1702	59	5	2024	5	ZFHX4	8	77618345	Nonsense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	8652970	77618345	68745677	44	129109											
ZFHX4	79776	broad.mit.edu	37	chr8	77762599	77762599	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctgggaaatattcagGtatgccatcttatcatcaag	11	7	5	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr8:77762599G>A	uc003yav.2	+	9	4216	c.3829_splice	c.e9+1	p.G1277_splice	ZFHX4_uc003yau.1_Splice_Site_p.G1322_splice|ZFHX4_uc003yaw.1_Splice_Site_p.G1277_splice	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATATTCAGGTATGCCATCT	0.463										HNSCC(33;0.089)			A	77762599	G	A	77762599	5	1	259	1	0	0	0	0	0	0	1	0	17632	1275	44	4	3995	4	ZFHX4	8	77762599	Splice_Site	SNP	G	TCGA-HU-8608-01A-11D-2394-08	144254	77762599	68601423	45	129110											
ESRP1	54845	broad.mit.edu	37	chr8	95658491	95658491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatattgacaaactggaCgttgccacaatgacagagtg	10	9	0	4			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr8:95658491C>T	uc003ygq.3	+	4	654	c.471C>T	c.(469-471)GAC>GAT	p.D157D	ESRP1_uc003ygr.3_Silent_p.D157D|ESRP1_uc003ygs.3_Silent_p.D157D|ESRP1_uc003ygt.3_Silent_p.D157D|ESRP1_uc003ygu.3_Silent_p.D157D|ESRP1_uc003ygv.2_Translation_Start_Site|ESRP1_uc003ygw.2_Translation_Start_Site	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	157					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						ACAAACTGGACGTTGCCACAA	0.333													T	95658491	C	T	95658491	2	4	259	1	0	0	0	0	0	0	0	1	5258	535	19	1		1	ESRP1	8	95658491	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08	17895892	95658491	50705531	46	129111											
JAK2	3717	broad.mit.edu	37	chr9	5078361	5078361	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaaaatattctgcttatcaGagaagaagacaggaagacag	9	6	2	4			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr9:5078361G>C	uc010mhm.2	+	15	2161	c.2048G>C	c.(2047-2049)AGA>ACA	p.R683T	JAK2_uc003ziw.2_Missense_Mutation_p.R683T	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	683	Protein kinase 1.				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.R683G(40)|p.R683S(12)|p.R683T(2)|p.R683K(1)|p.I682_D686>(1)	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	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)		CTGCTTATCAGAGAAGAAGAC	0.363		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				C	5078361	G	C	5078361	3	2	259	1	0	0	0	0	1	0	0	0	7938	942	33	5	2102	5	JAK2	9	5078361	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08		5078361	136135070	47	129112											
NFX1	4799	broad.mit.edu	37	chr9	33307203	33307203	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttctaggcaaggtaaagAatcctgagtggagcagaaat	12	5	1	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr9:33307203A>C	uc003zsq.2	+	5	1343	c.1282A>C	c.(1282-1284)AAT>CAT	p.N428H	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.N428H|NFX1_uc003zso.2_Missense_Mutation_p.N428H|NFX1_uc003zsp.1_Missense_Mutation_p.N428H|NFX1_uc010mjr.1_Missense_Mutation_p.N428H|NFX1_uc003zsr.2_Missense_Mutation_p.N428H	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	428					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CAAGGTAAAGAATCCTGAGTG	0.418													C	33307203	A	C	33307203	3	2	259	1	0	0	0	0	1	0	0	0	10387	246	9	5	1300	5	NFX1	9	33307203	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	28228842	33307203	107906228	48	129113											
KIAA1045	23349	broad.mit.edu	37	chr9	34971401	34971401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaggccttccatccgaCgcacaggtgagctgccaggg	15	13	0	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr9:34971401C>T	uc003zvq.2	+	2	284	c.106C>T	c.(106-108)CGC>TGC	p.R36C	KIAA1045_uc003zvr.2_Missense_Mutation_p.R36C	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	36							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCCATCCGACGCACAGGTGA	0.617													T	34971401	C	T	34971401	3	4	259	1	0	0	0	0	1	0	0	0	8207	536	19	1	108	1	KIAA1045	9	34971401	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	1664198	34971401	106242030	49	129114											
C9orf172	389813	broad.mit.edu	37	chr9	139739581	139739581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatggcgctgtcgcgcaccCcgacgcccagcgactcatac	10	18	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr9:139739581C>A	uc011meh.1	+	1	715	c.715C>A	c.(715-717)CCG>ACG	p.P239T	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	239	Pro-rich.										0						GTCGCGCACCCCGACGCCCAG	0.766													A	139739581	C	A	139739581	3	1	259	1	0	0	0	0	1	0	0	0	2471	623	22	5	717	5	C9orf172	9	139739581	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	104768180	139739581	1473850	50	129115											
CUBN	8029	broad.mit.edu	37	chr10	16996518	16996518	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacacgtcctggcaaggcgGgacattgtggagcttaagcc	13	12	0	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr10:16996518G>T	uc001ioo.2	-	32	4777	c.4725C>A	c.(4723-4725)TCC>TCA	p.S1575S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1575	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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCAAGGCGGGACATTGTGG	0.522													T	16996518	G	T	16996518	2	4	259	1	0	0	0	0	0	0	0	1	4051	1219	43	5		5	CUBN	10	16996518	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08		16996518	118538229	51	129116											
RET	5979	broad.mit.edu	37	chr10	43600608	43600608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccgcgggcgtcgacacCgccagcgccgtggtggagtt	15	15	0	0	rs41306550		TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr10:43600608C>T	uc001jal.2	+	4	1024	c.834C>T	c.(832-834)ACC>ACT	p.T278T	RET_uc001jak.1_Silent_p.T278T|RET_uc010qez.1_Silent_p.T24T	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	278	Extracellular (Potential).				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.T278N(2)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCGTCGACACCGCCAGCGCCG	0.687		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43600608	C	T	43600608	2	4	259	1	0	0	0	0	0	0	0	1	13235	639	23	1		1	RET	10	43600608	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08	26604090	43600608	91934139	52	129117											
GRID1	2894	broad.mit.edu	37	chr10	87484322	87484322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagatgctgattttctcctCgggcttcttaattagaatcc	8	9	2	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr10:87484322C>T	uc001kdl.1	-	11	1746	c.1645G>A	c.(1645-1647)GAG>AAG	p.E549K	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.E120K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	549	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	ATTTTCTCCTCGGGCTTCTTA	0.512										Multiple Myeloma(13;0.14)			T	87484322	C	T	87484322	3	4	259	1	0	0	0	0	1	0	0	0	6771	893	31	1	1408	1	GRID1	10	87484322	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	43883714	87484322	48050425	53	129118											
ENTPD7	57089	broad.mit.edu	37	chr10	101458523	101458523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttcaacaacagcgagTtctacggcttctctgagttt	8	10	3	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr10:101458523T>G	uc001kqa.3	+	10	1421	c.1243T>G	c.(1243-1245)TTC>GTC	p.F415V	ENTPD7_uc009xwl.2_Missense_Mutation_p.F417V	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	415	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CAACAGCGAGTTCTACGGCTT	0.507													G	101458523	T	G	101458523	3	3	259	1	0	0	0	0	1	0	0	0	5144	1725	60	5	1277	5	ENTPD7	10	101458523	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	13974201	101458523	34076224	54	129119											
DPYSL4	10570	broad.mit.edu	37	chr10	134016171	134016171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtggagtacaacatcttcGagggagtggagtgccgggga	17	7	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr10:134016171G>A	uc009ybb.2	+	12	1457	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	435					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		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)		CAACATCTTCGAGGGAGTGGA	0.667													A	134016171	G	A	134016171	3	1	259	1	0	0	0	0	1	0	0	0	4749	1059	37	1	1349	1	DPYSL4	10	134016171	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	32557648	134016171	1518576	55	129120											
ATHL1	80162	broad.mit.edu	37	chr11	293712	293713	+	Frame_Shift_Ins	INS	-	-	C													ctgtgacgtccccccagggcINScccgccatgacctgggtgag							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:293711_293712G>GC	uc010qvu.2	+	9	1713_1714	c.1598_1599G>GC	c.(1597-1599)ggcfs	p.G533fs	ATHL1_uc001lor.4_Frame_Shift_Ins_p.G285fs|ATHL1_uc001lou.4_Frame_Shift_Ins_p.G108fs|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	533					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCCCCAGGGCCCCGCCATGA	0.619													C	293713	-	C	293712	7	5	259	1	0	1	1	0	0	0	0	0	1104	726	26	0	1633	0	ATHL1	11	293712	Frame_Shift_Ins	INS	-	TCGA-HU-8608-01A-11D-2394-08		293712	134712804	56	129121											
OR51F1	256892	broad.mit.edu	37	chr11	4790243	4790243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagactgagcatagccttgCggatttgttttgtttttaca	10	7	0	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:4790243C>T	uc010qyl.1	-	1	905	c.905G>A	c.(904-906)CGC>CAC	p.R302H		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	302						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		CATAGCCTTGCGGATTTGTTT	0.433													T	4790243	C	T	4790243	3	4	259	1	0	0	0	0	1	0	0	0	11096	768	27	1	36	1	OR51F1	11	4790243	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	4496531	4790243	130216273	57	129122											
OR52H1	390067	broad.mit.edu	37	chr11	5565982	5565982	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaggtgtataaaacaTgaggatgacacagacatgag	12	5	0	4			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:5565982T>A	uc010qzh.1	-	1	772	c.772A>T	c.(772-774)ATG>TTG	p.M258L	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	258	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATAAAACATGAGGATGACA	0.493													A	5565982	T	A	5565982	3	1	259	1	0	0	0	0	1	0	0	0	11119	1464	51	5	193	5	OR52H1	11	5565982	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	775739	5565982	129440534	58	129123											
MRPL17	63875	broad.mit.edu	37	chr11	6703464	6703464	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagtgtaaggtggctgtctCtgcgaggcagaggcaggggt	20	6	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:6703464C>G	uc001men.2	-	3	518	c.413G>C	c.(412-414)AGA>ACA	p.R138T		NM_022061	NP_071344	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17 precursor	138					translation	ribosome	protein domain specific binding|structural constituent of ribosome				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGCTGTCTCTGCGAGGCAG	0.557													G	6703464	C	G	6703464	3	3	259	1	0	0	0	0	1	0	0	0	9782	913	32	5	118	5	MRPL17	11	6703464	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	1137482	6703464	128303052	59	129124											
E2F8	79733	broad.mit.edu	37	chr11	19256429	19256429	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcatattctttcttttTgatcatcataatctgctcgg	5	9	6	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:19256429T>A	uc001mpm.2	-	5	1150	c.628A>T	c.(628-630)AAA>TAA	p.K210*	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Nonsense_Mutation_p.K210*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	210					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCTTTCTTTTTGATCATCATA	0.428													A	19256429	T	A	19256429	4	1	259	1	0	0	0	0	0	1	0	0	4873	1821	63	5	2011	5	E2F8	11	19256429	Nonsense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	12552965	19256429	115750087	60	129125											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513671	+	Frame_Shift_Ins	INS	-	-	C													atagaagtcatccaaggtacINSccccccatgagccatttcgg							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:35513669_35513670A>AC	uc001mwf.3	-	2	345_346	c.302_303T>GT	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Ins_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					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						CATCCAAGGTACCCCCCCATGA	0.52													C	35513671	-	C	35513670	7	5	259	1	0	1	1	0	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Ins	INS	-	TCGA-HU-8608-01A-11D-2394-08	16257241	35513670	99492846	61	129126											
RAPSN	5913	broad.mit.edu	37	chr11	47463391	47463391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctccaggtccccacggCtccggtggatgtcagcgaag	12	15	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:47463391C>T	uc001nfi.1	-	4	987	c.773G>A	c.(772-774)AGC>AAC	p.S258N	RAPSN_uc001nfj.1_Missense_Mutation_p.S258N|RAPSN_uc009yls.1_Missense_Mutation_p.S258N	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	258	TPR 6.				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						GTCCCCACGGCTCCGGTGGAT	0.682													T	47463391	C	T	47463391	3	4	259	1	0	0	0	0	1	0	0	0	13051	797	28	2	485	2	RAPSN	11	47463391	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	11949721	47463391	87543125	62	129127											
OSBP	5007	broad.mit.edu	37	chr11	59344413	59344413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggtcaggtcgtaaccGgctgtctgtgggggcagtgc	16	10	3	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:59344413G>A	uc001noc.1	-	13	2626	c.2146C>T	c.(2146-2148)CGG>TGG	p.R716W	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	716					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGTCGTAACCGGCTGTCTGTG	0.483													A	59344413	G	A	59344413	3	1	259	1	0	0	0	0	1	0	0	0	11273	1115	39	1	285	1	OSBP	11	59344413	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	11881022	59344413	75662103	63	129128											
RPS3	6188	broad.mit.edu	37	chr11	75115769	75115769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggacccaactggtaagAttggccctaagaagcccctg	11	13	0	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:75115769A>G	uc001owh.2	+	6	622	c.592A>G	c.(592-594)ATT>GTT	p.I198V	RPS3_uc001owi.2_Missense_Mutation_p.I198V|RPS3_uc001owk.1_Missense_Mutation_p.I72V	NM_001005	NP_000996	P23396	RS3_HUMAN	ribosomal protein S3	198					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome				0						AACTGGTAAGATTGGCCCTAA	0.562													G	75115769	A	G	75115769	3	3	259	1	0	0	0	0	1	0	0	0	13643	333	12	3	614	3	RPS3	11	75115769	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	15771356	75115769	59890747	64	129129											
DSCAML1	57453	broad.mit.edu	37	chr11	117376176	117376176	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtccctgctcaccacgcacGatgagctggcgctcccggct	11	17	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr11:117376176G>A	uc001prh.1	-	9	2237	c.2235C>T	c.(2233-2235)ATC>ATT	p.I745I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	685	Extracellular (Potential).|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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		CACCACGCACGATGAGCTGGC	0.582													A	117376176	G	A	117376176	2	1	259	1	0	0	0	0	0	0	0	1	4769	1048	37	1		1	DSCAML1	11	117376176	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08	42260407	117376176	17630340	65	129130											
WNK1	65125	broad.mit.edu	37	chr12	990059	990059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagccttatgtggaatcaaAtcttttagttcctatgggtg	10	7	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr12:990059A>G	uc001qio.3	+	12	3512	c.3005A>G	c.(3004-3006)AAT>AGT	p.N1002S	WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1002					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	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)			GTGGAATCAAATCTTTTAGTT	0.517													G	990059	A	G	990059	3	3	259	1	0	0	0	0	1	0	0	0	17374	101	4	3	4553	3	WNK1	12	990059	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08		990059	132861836	66	129131											
CLEC12A	160364	broad.mit.edu	37	chr12	10133333	10133333	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacaacaaaaatgcattgGtaaagcccaggtgtttctac	7	8	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr12:10133333G>A	uc001qwr.3	+	4	719	c.531_splice	c.e4+1	p.L177_splice	CLEC12A_uc001qwq.2_Splice_Site_p.L187_splice|CLEC12A_uc001qws.3_Splice_Site_p.L144_splice|CLEC12A_uc001qwt.2_Splice_Site_p.L106_splice	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor							integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						AAATGCATTGGTAAAGCCCAG	0.433													A	10133333	G	A	10133333	5	1	259	1	0	0	0	0	0	0	1	0	3497	1275	44	4	546	4	CLEC12A	12	10133333	Splice_Site	SNP	G	TCGA-HU-8608-01A-11D-2394-08	9143274	10133333	123718562	67	129132											
ALG10B	144245	broad.mit.edu	37	chr12	38714279	38714279	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaggaccatttgcagAattcagaaaaattcttcagt	6	6	3	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr12:38714279A>T	uc001rln.3	+	3	825	c.686A>T	c.(685-687)GAA>GTA	p.E229V	ALG10B_uc001rlo.3_Missense_Mutation_p.E199V|ALG10B_uc010skk.1_Missense_Mutation_p.E169V	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	229	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCATTTGCAGAATTCAGAAAA	0.383													T	38714279	A	T	38714279	3	4	259	1	0	0	0	0	1	0	0	0	512	246	9	5	696	5	ALG10B	12	38714279	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	28580946	38714279	95137616	68	129133											
SCN8A	6334	broad.mit.edu	37	chr12	52115568	52115568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctacagccagggcagccGctcctcgcgcatcttcccca	10	19	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr12:52115568G>A	uc001ryw.2	+	12	2052	c.1874G>A	c.(1873-1875)CGC>CAC	p.R625H	SCN8A_uc010snl.1_Missense_Mutation_p.R490H|SCN8A_uc001ryx.1_Missense_Mutation_p.R490H|SCN8A_uc001ryz.1_Missense_Mutation_p.R490H|SCN8A_uc001ryy.2_Missense_Mutation_p.R490H	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	625					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAGGGCAGCCGCTCCTCGCGC	0.637													A	52115568	G	A	52115568	3	1	259	1	0	0	0	0	1	0	0	0	13924	1087	38	1	1916	1	SCN8A	12	52115568	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	13401289	52115568	81736327	69	129134											
APPL2	55198	broad.mit.edu	37	chr12	105597491	105597491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcattacctttgaaccaTgtctgcaacggaggataaaa	9	9	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr12:105597491T>C	uc001tlf.1	-	9	912	c.694A>G	c.(694-696)ATG>GTG	p.M232V	APPL2_uc010swt.1_Missense_Mutation_p.M189V|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.M238V|APPL2_uc009zuq.2_Missense_Mutation_p.M189V	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	232	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						CTTTGAACCATGTCTGCAACG	0.443													C	105597491	T	C	105597491	3	2	259	1	0	0	0	0	1	0	0	0	818	1464	51	3	1352	3	APPL2	12	105597491	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08	53481923	105597491	28254404	70	129135											
FRY	10129	broad.mit.edu	37	chr13	32811574	32811574	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagcagaaagagcacaGgacaactaaacatgaacccg	9	11	0	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr13:32811574G>T	uc001utx.2	+	44	6365	c.5869G>T	c.(5869-5871)GGA>TGA	p.G1957*	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1957					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		AAAGAGCACAGGACAACTAAA	0.473													T	32811574	G	T	32811574	4	4	259	1	0	0	0	0	0	1	0	0	6063	1001	35	5	6043	5	FRY	13	32811574	Nonsense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08		32811574	82358304	71	129136											
KBTBD6	89890	broad.mit.edu	37	chr13	41706551	41706551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctggacccgtgaaaaAggccgaaactgtgggtttgt	12	9	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr13:41706551A>G	uc001uxu.1	-	1	386	c.97T>C	c.(97-99)TTT>CTT	p.F33L	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.F33L|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	33							protein binding			ovary(1)|skin(1)	2		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)		CCCGTGAAAAAGGCCGAAACT	0.607													G	41706551	A	G	41706551	3	3	259	1	0	0	0	0	1	0	0	0	7997	72	3	3	1931	3	KBTBD6	13	41706551	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	8894977	41706551	73463327	72	129137											
RASA3	22821	broad.mit.edu	37	chr13	114795308	114795308	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcgagcttgtggcagAcgaccccagtgtctgtgatg	16	9	1	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr13:114795308A>G	uc001vui.2	-	5	559	c.428T>C	c.(427-429)GTC>GCC	p.V143A	RASA3_uc010tkk.1_Missense_Mutation_p.V111A|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA|RASA3_uc010aha.1_RNA	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	143	C2 2.				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			lung(3)|skin(1)	4	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)			CTTGTGGCAGACGACCCCAGT	0.622													G	114795308	A	G	114795308	3	3	259	1	0	0	0	0	1	0	0	0	13062	275	10	3	2156	3	RASA3	13	114795308	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	73088757	114795308	374570	73	129138											
SYNE2	23224	broad.mit.edu	37	chr14	64484436	64484436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcccttcaaaaaatggaaTtacatcaattgactgaagag	8	7	2	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr14:64484436T>A	uc001xgm.2	+	34	5241	c.5011T>A	c.(5011-5013)TTA>ATA	p.L1671I	SYNE2_uc001xgl.2_Missense_Mutation_p.L1671I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1671	Cytoplasmic (Potential).|Potential.				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAATGGAATTACATCAATT	0.323													A	64484436	T	A	64484436	3	1	259	1	0	0	0	0	1	0	0	0	15443	1490	52	5	5141	5	SYNE2	14	64484436	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08		64484436	42865104	74	129139											
MTA1	9112	broad.mit.edu	37	chr14	105931113	105931113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagctgacgcggatcgccCggcgcctgtgccgtgagatc	15	14	0	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr14:105931113C>T	uc001yqx.2	+	15	1634	c.1447C>T	c.(1447-1449)CGG>TGG	p.R483W	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R244W	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	483					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		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)		GCGGATCGCCCGGCGCCTGTG	0.677													T	105931113	C	T	105931113	3	4	259	1	0	0	0	0	1	0	0	0	9908	643	23	1	1505	1	MTA1	14	105931113	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	41446677	105931113	1418427	75	129140											
C15orf2	23742	broad.mit.edu	37	chr15	24922918	24922918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaataccaccccaagttTtaaccaactctttggaaaag	4	13	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr15:24922918T>C	uc001ywo.2	+	1	2378	c.1904T>C	c.(1903-1905)TTT>TCT	p.F635S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	635					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACCCCAAGTTTTAACCAACTC	0.493													C	24922918	T	C	24922918	3	2	259	1	0	0	0	0	1	0	0	0	1784	1841	64	3	1906	3	C15orf2	15	24922918	Missense_Mutation	SNP	T	TCGA-HU-8608-01A-11D-2394-08		24922918	77608474	76	129141											
LCMT2	9836	broad.mit.edu	37	chr15	43621365	43621365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagaacccccaaggctggActtactggggacagtctccc	12	13	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr15:43621365A>G	uc001zrg.2	-	1	1527	c.1323T>C	c.(1321-1323)AGT>AGC	p.S441S	LCMT2_uc010udn.1_Silent_p.S20S|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	441					tRNA processing		methyltransferase activity|protein binding				0		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)	CCAAGGCTGGACTTACTGGGG	0.493													G	43621365	A	G	43621365	2	3	259	1	0	0	0	0	0	0	0	1	8679	272	10	3		3	LCMT2	15	43621365	Silent	SNP	A	TCGA-HU-8608-01A-11D-2394-08	18698447	43621365	58910027	77	129142											
ZNF280D	54816	broad.mit.edu	37	chr15	56924285	56924286	+	Frame_Shift_Ins	INS	-	-	T													tgaatttgcattacatccatINSttttttcttttgaagaagca							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr15:56924284_56924285A>AT	uc002adu.3	-	21	2568_2569	c.2351_2352T>AT	c.(2350-2352)aatfs	p.N784fs	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Frame_Shift_Ins_p.N771fs|ZNF280D_uc010bfq.3_Frame_Shift_Ins_p.N784fs|ZNF280D_uc002adt.3_Frame_Shift_Ins_p.N25fs|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	784					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)		CATTACATCCATTTTTTTCTTT	0.302													T	56924286	-	T	56924285	7	5	259	1	0	1	1	0	0	0	0	0	17814	1493	52	0	592	0	ZNF280D	15	56924285	Frame_Shift_Ins	INS	-	TCGA-HU-8608-01A-11D-2394-08	13302920	56924285	45607107	78	129143											
ARID3B	10620	broad.mit.edu	37	chr15	74882324	74882324	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacatccatcaccagcgcCgccttcaccctcaggacgca	6	21	3	0	rs144245237	byFrequency	TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr15:74882324C>G	uc002aye.2	+	5	1062	c.861C>G	c.(859-861)GCC>GCG	p.A287A	ARID3B_uc002ayd.2_Silent_p.A287A|ARID3B_uc010bjs.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	287	ARID.|Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TCACCAGCGCCGCCTTCACCC	0.572													G	74882324	C	G	74882324	2	3	259	1	0	0	0	0	0	0	0	1	917	639	23	5		5	ARID3B	15	74882324	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08	17958039	74882324	27649068	79	129144											
CSPG4	1464	broad.mit.edu	37	chr15	75980584	75980584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagccaacctcccatggCggggccgctccatgacctca	10	18	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr15:75980584C>T	uc002baw.2	-	3	2915	c.2822G>A	c.(2821-2823)CGC>CAC	p.R941H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	941	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 5.|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			ovary(2)|pancreas(1)	3						CCTCCCATGGCGGGGCCGCTC	0.582													T	75980584	C	T	75980584	3	4	259	1	0	0	0	0	1	0	0	0	3960	768	27	1	4178	1	CSPG4	15	75980584	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	1098260	75980584	26550808	80	129145											
CHD2	1106	broad.mit.edu	37	chr15	93524598	93524598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttgttcttttaggaaAtggatatagatgaaattttg	10	2	1	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr15:93524598A>G	uc002bsp.2	+	24	3552	c.2977A>G	c.(2977-2979)ATG>GTG	p.M993V	CHD2_uc002bso.1_Missense_Mutation_p.M993V	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	993	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTTTTAGGAAATGGATATAGA	0.358													G	93524598	A	G	93524598	3	3	259	1	0	0	0	0	1	0	0	0	3325	101	4	3	3071	3	CHD2	15	93524598	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	17544014	93524598	9006794	81	129146											
KIAA0430	9665	broad.mit.edu	37	chr16	15733043	15733050	+	Frame_Shift_Del	DEL	TCCACGTG	TCCACGTG	-													tcattatcttgttgaagccaTccacgtgttctactgcagga							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:15733042_15733049ATCCACGTG>A	uc002ddr.3	-	1	249_256	c.42_49CACGTGGAT>T	c.(40-51)acacgtggatggfs	p.T14fs	KIAA0430_uc002ddq.3_Frame_Shift_Del_p.T13fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.T14fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.T14fs|KIAA0430_uc010uzx.2_Frame_Shift_Del_p.T13fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	13						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGTTGAAGCCATCCACGTGTTCTACTGC	0.442													-	15733050	TCCACGTG	-	15733043	7	5	259	1	0	1	0	1	0	0	0	0	8177	1422	50	0	5287	0	KIAA0430	16	15733043	Frame_Shift_Del	DEL	TCCACGTG	TCGA-HU-8608-01A-11D-2394-08		15733043	74621710	82	129147											
PLK1	5347	broad.mit.edu	37	chr16	23700944	23700944	+	Frame_Shift_Del	DEL	A	A	-													ggacctggttccgcacccgcAgcgccatcatcctgcacctc							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:23700943_23700943CA>C	uc002dlz.1	+	8	1607	c.1554_1554CA>C	c.(1552-1554)cgcfs	p.R518fs		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	518	POLO box 2.		R -> H (in dbSNP:rs56027600).		G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|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	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding	p.T517T(1)		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)		TCCGCACCCGCAGCGCCATCA	0.637													-	23700944	A	-	23700944	7	5	259	1	0	1	0	1	0	0	0	0	12094	188	7	0	1589	0	PLK1	16	23700944	Frame_Shift_Del	DEL	A	TCGA-HU-8608-01A-11D-2394-08	7967901	23700944	66653809	83	129148											
ABCC12	94160	broad.mit.edu	37	chr16	48167651	48167651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaggataatgtcagcaCgatggctatggtggacacga	15	7	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:48167651C>T	uc002efc.1	-	7	1421	c.1075G>A	c.(1075-1077)GTG>ATG	p.V359M	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V359M|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	359	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				AATGTCAGCACGATGGCTATG	0.527													T	48167651	C	T	48167651	3	4	259	1	0	0	0	0	1	0	0	0	52	536	19	1	3096	1	ABCC12	16	48167651	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	24466707	48167651	42187102	84	129149											
ABCC11	85320	broad.mit.edu	37	chr16	48226539	48226539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagggcgttgagcccGtacaccagctggtagaagga	16	9	0	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:48226539G>A	uc002eff.1	-	19	2948	c.2598C>T	c.(2596-2598)TAC>TAT	p.Y866Y	ABCC11_uc002efg.1_Silent_p.Y866Y|ABCC11_uc002efh.1_Silent_p.Y866Y|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	866	Helical; (Potential).|ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CGTTGAGCCCGTACACCAGCT	0.552									Cerumen_Type				A	48226539	G	A	48226539	2	1	259	1	0	0	0	0	0	0	0	1	51	1140	40	1		1	ABCC11	16	48226539	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08	58888	48226539	42128214	85	129150											
SLC12A4	6560	broad.mit.edu	37	chr16	67980104	67980104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcaggaagggcagaagCatgagcatgccaccatcgtg	14	11	0	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:67980104C>A	uc002euz.2	-	19	2718	c.2577G>T	c.(2575-2577)ATG>ATT	p.M859I	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.M853I|SLC12A4_uc010vkh.1_Missense_Mutation_p.M828I|SLC12A4_uc010vki.1_Missense_Mutation_p.M859I|SLC12A4_uc010vkj.1_Missense_Mutation_p.M861I|SLC12A4_uc002eva.2_Missense_Mutation_p.M859I|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	859	Helical; (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		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)	AGGGCAGAAGCATGAGCATGC	0.612													A	67980104	C	A	67980104	3	1	259	1	0	0	0	0	1	0	0	0	14385	710	25	5	704	5	SLC12A4	16	67980104	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	19753565	67980104	22374649	86	129151											
CIRH1A	84916	broad.mit.edu	37	chr16	69201031	69201031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcctcccacgaatgaAtcagatgtcatccggaggcg	9	13	2	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:69201031A>G	uc002ews.3	+	16	1983	c.1887A>G	c.(1885-1887)GAA>GAG	p.E629E	CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.3_Silent_p.E546E|CIRH1A_uc010cfi.2_Silent_p.E431E	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	629						nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCACGAATGAATCAGATGTCA	0.363													G	69201031	A	G	69201031	2	3	259	1	0	0	0	0	0	0	0	1	3434	98	4	3		3	CIRH1A	16	69201031	Silent	SNP	A	TCGA-HU-8608-01A-11D-2394-08	1220927	69201031	21153722	87	129152											
VPS4A	27183	broad.mit.edu	37	chr16	69356604	69356607	+	Splice_Site	DEL	GTAA	GTAA	-													tagagcctgtggtttgcatgGtaagtgacttgacaggggag							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:69356603_69356606GGTAA>G	uc002eww.3	+	10	1340	c.1212_splice	c.e10+1	p.M404_splice		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog A (S. cerevisiae) (VPS4A), mRNA.	404					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)				TGGTTTGCATGGTAAGTGACTTGA	0.544													-	69356607	GTAA	-	69356604	8	5	259	1	0	1	0	1	0	0	1	0	17209	1275	44	0	1251	0	VPS4A	16	69356604	Splice_Site	DEL	GTAA	TCGA-HU-8608-01A-11D-2394-08	155573	69356604	20998149	88	129153											
NOB1	28987	broad.mit.edu	37	chr16	69782978	69782979	+	In_Frame_Ins	INS	-	-	TCCTCC													gtcttcaaacccgttttcttINScctcctcctcctcctcactt							TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr16:69782977_69782978T>TTCCTCC	uc002exs.3	-	5	585_586	c.569_570A>GGAGGAA	c.(568-570)gaa>gGGAGGAA	p.190_190E>GR		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	190	Poly-Glu.					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						ACCCGTTTTCTTCCTCCTCCTC	0.52													TCCTCC	69782979	-	TCCTCC	69782978	7	5	259	1	0	1	1	0	0	0	0	0	10511	1783	62	0	685	0	NOB1	16	69782978	In_Frame_Ins	INS	-	TCGA-HU-8608-01A-11D-2394-08	426374	69782978	20571775	89	129154											
ASGR2	433	broad.mit.edu	37	chr17	7005041	7005041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgtgccaattatctggCtgagtgacagcccagttcct	10	13	1	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr17:7005041C>A	uc002gep.3	-	9	1054	c.789G>T	c.(787-789)CAG>CAT	p.Q263H	ASGR2_uc010vtk.1_Missense_Mutation_p.Q100H|ASGR2_uc002gem.1_Missense_Mutation_p.Q202H|ASGR2_uc002gen.1_Missense_Mutation_p.Q244H|ASGR2_uc002geo.1_Missense_Mutation_p.Q258H|ASGR2_uc002ger.3_Missense_Mutation_p.Q263H|ASGR2_uc002geq.3_Missense_Mutation_p.Q239H	NM_001181	NP_001172	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2 isoform a	263	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			ovary(1)	1					Antihemophilic Factor(DB00025)	AATTATCTGGCTGAGTGACAG	0.552													A	7005041	C	A	7005041	3	1	259	1	0	0	0	0	1	0	0	0	1040	796	28	5	150	5	ASGR2	17	7005041	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08		7005041	74190169	90	129155											
ALDH3A2	224	broad.mit.edu	37	chr17	19559856	19559856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaaagtccatgttatattGataaagattgtgacctggac	10	5	0	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr17:19559856G>A	uc002gwb.1	+	4	870	c.649G>A	c.(649-651)GAT>AAT	p.D217N	ALDH3A2_uc002gwa.1_Missense_Mutation_p.D217N|ALDH3A2_uc010cqr.1_Missense_Mutation_p.D24N|ALDH3A2_uc002gwc.1_Missense_Mutation_p.D217N|ALDH3A2_uc002gwd.1_Missense_Mutation_p.D24N	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	217	Cytoplasmic.				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 (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	ATGTTATATTGATAAAGATTG	0.458													A	19559856	G	A	19559856	3	1	259	1	0	0	0	0	1	0	0	0	498	1290	45	4	663	4	ALDH3A2	17	19559856	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	12554815	19559856	61635354	91	129156											
KCNJ12	3768	broad.mit.edu	37	chr17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtggacatccgctggCggtacatgctgctcatcttc	11	13	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr17:21318895C>T	uc002gyv.1	+	3	946	c.241C>T	c.(241-243)CGG>TGG	p.R81W		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	81	Helical; Name=M1; (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	CATCCGCTGGCGGTACATGCT	0.577										Prostate(3;0.18)			T	21318895	C	T	21318895	3	4	259	1	0	0	0	0	1	0	0	0	8046	759	27	1	243	1	KCNJ12	17	21318895	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	1759039	21318895	59876315	92	129157											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917272	48917272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccctgagctggacatggCggcccctgcgctgctcaaca	12	16	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr17:48917272C>T	uc002isv.3	+	2	1317	c.623C>T	c.(622-624)GCG>GTG	p.A208V	WFIKKN2_uc010dbu.2_Missense_Mutation_p.A115V	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	208						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGGACATGGCGGCCCCTGCG	0.652													T	48917272	C	T	48917272	3	4	259	1	0	0	0	0	1	0	0	0	17356	768	27	1	629	1	WFIKKN2	17	48917272	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	27598377	48917272	32277938	93	129158											
SFRS1	6426	broad.mit.edu	37	chr17	56084463	56084463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagatgcggcaatcgttgttCcctgcggggccacgaatcac	12	12	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr17:56084463C>T	uc002ivi.2	-	1	245	c.36G>A	c.(34-36)GGG>GGA	p.G12G	SFRS1_uc002ivj.2_Silent_p.G12G	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	12					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)		AATCGTTGTTCCCTGCGGGGC	0.587													T	56084463	C	T	56084463	2	4	259	1	0	0	0	0	0	0	0	1	14165	842	30	4		4	SFRS1	17	56084463	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08	7167191	56084463	25110747	94	129159											
OR4D2	124538	broad.mit.edu	37	chr17	56247498	56247498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactctattgtccagctggCtctgatgctcccactgccct	7	17	2	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr17:56247498C>T	uc010wnp.1	+	1	482	c.482C>T	c.(481-483)GCT>GTT	p.A161V		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						GTCCAGCTGGCTCTGATGCTC	0.567													T	56247498	C	T	56247498	3	4	259	1	0	0	0	0	1	0	0	0	11056	797	28	2	484	2	OR4D2	17	56247498	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	163035	56247498	24947712	95	129160											
EPX	8288	broad.mit.edu	37	chr17	56271430	56271430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacccccagcaggaggCgcaatggcttccttctccct	11	16	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr17:56271430C>T	uc002ivq.2	+	5	657	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	191					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CAGCAGGAGGCGCAATGGCTT	0.517													T	56271430	C	T	56271430	3	4	259	1	0	0	0	0	1	0	0	0	5200	768	27	1	589	1	EPX	17	56271430	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	23932	56271430	24923780	96	129161											
SCAMP4	113178	broad.mit.edu	37	chr19	1918891	1918891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtccctccccagagcCgacagctcctttaatttcat	5	15	2	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:1918891C>T	uc002luj.2	+	5	404	c.297C>T	c.(295-297)GCC>GCT	p.A99A	SCAMP4_uc002lui.1_Silent_p.A99A|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Silent_p.A55A	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	99					protein transport	integral to membrane					0		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)		TCCCCAGAGCCGACAGCTCCT	0.587													T	1918891	C	T	1918891	2	4	259	1	0	0	0	0	0	0	0	1	13873	639	23	1		1	SCAMP4	19	1918891	Silent	SNP	C	TCGA-HU-8608-01A-11D-2394-08		1918891	57210092	97	129162											
PLIN4	729359	broad.mit.edu	37	chr19	4504699	4504699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactggctgctggagctcGgcgggcaggccctggaggct	17	14	0	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:4504699G>A	uc002mar.1	-	6	3846	c.3846C>T	c.(3844-3846)GCC>GCT	p.A1282A	PLIN4_uc010dub.1_Silent_p.A306A	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	1282						lipid particle|plasma membrane					0						GCTGGAGCTCGGCGGGCAGGC	0.701													A	4504699	G	A	4504699	2	1	259	1	0	0	0	0	0	0	0	1	12092	1103	39	1		1	PLIN4	19	4504699	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08	2585808	4504699	54624284	98	129163											
MUC16	94025	broad.mit.edu	37	chr19	9059719	9059719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttgtcactgagtcagCtaggacagaggaaggagatt	13	6	2	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:9059719C>A	uc002mkp.2	-	3	27931	c.27727G>T	c.(27727-27729)GCT>TCT	p.A9243S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9245	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTGAGTCAGCTAGGACAGAG	0.463													A	9059719	C	A	9059719	3	1	259	1	0	0	0	0	1	0	0	0	9973	797	28	5	16124	5	MUC16	19	9059719	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	4555020	9059719	50069264	99	129164											
ZNF426	79088	broad.mit.edu	37	chr19	9639881	9639881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacattccttacatttGtagggcttttttgcattgag	7	8	0	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:9639881G>A	uc002mlq.2	-	8	1104	c.840C>T	c.(838-840)TAC>TAT	p.Y280Y	ZNF426_uc010dws.2_Silent_p.Y242Y	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	280	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTTACATTTGTAGGGCTTTT	0.418													A	9639881	G	A	9639881	2	1	259	1	0	0	0	0	0	0	0	1	17897	1372	48	4		4	ZNF426	19	9639881	Silent	SNP	G	TCGA-HU-8608-01A-11D-2394-08	580162	9639881	49489102	100	129165											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10225259	10225259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctctactctacatggccGcagtgcccagcctgggctgc	10	17	2	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:10225259G>A	uc002mna.2	+	13	2230	c.2230G>A	c.(2230-2232)GCA>ACA	p.A744T	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.A324T	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTACATGGCCGCAGTGCCCAG	0.677													A	10225259	G	A	10225259	3	1	259	1	0	0	0	0	1	0	0	0	12289	1087	38	1		1	PPAN-P2RY11	19	10225259	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	585378	10225259	48903724	101	129166											
CYP4F3	4051	broad.mit.edu	37	chr19	15763705	15763705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccggaataccaggagcGctgtcggcaggaggtgcaag	16	11	0	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:15763705G>A	uc002nbj.2	+	9	1108	c.1058G>A	c.(1057-1059)CGC>CAC	p.R353H	CYP4F3_uc010xok.1_Missense_Mutation_p.R353H|CYP4F3_uc010xol.1_Missense_Mutation_p.R353H|CYP4F3_uc010xom.1_Missense_Mutation_p.R204H|CYP4F3_uc002nbk.2_Missense_Mutation_p.R353H|CYP4F3_uc010xon.1_Missense_Mutation_p.R63H	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	353					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			ovary(3)	3						TACCAGGAGCGCTGTCGGCAG	0.592													A	15763705	G	A	15763705	3	1	259	1	0	0	0	0	1	0	0	0	4190	1087	38	1	1088	1	CYP4F3	19	15763705	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	5538446	15763705	43365278	102	129167											
PGPEP1	54858	broad.mit.edu	37	chr19	18468415	18468415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcggtgaccatctcgcagGatgccggcaggtagggccct	15	12	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:18468415G>A	uc002nis.1	+	4	511	c.427G>A	c.(427-429)GAT>AAT	p.D143N	PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_Missense_Mutation_p.D66N|PGPEP1_uc010xqg.1_Missense_Mutation_p.D66N	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	143							cysteine-type peptidase activity				0						CATCTCGCAGGATGCCGGCAG	0.602													A	18468415	G	A	18468415	3	1	259	1	0	0	0	0	1	0	0	0	11803	1174	41	4	441	4	PGPEP1	19	18468415	Missense_Mutation	SNP	G	TCGA-HU-8608-01A-11D-2394-08	2704710	18468415	40660568	103	129168											
FCGBP	8857	broad.mit.edu	37	chr19	40433845	40433845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtgtgagcacaaaatactCggtgcctagggcctggatgg	16	8	0	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:40433845C>T	uc002omp.3	-	2	432	c.424G>A	c.(424-426)GAG>AAG	p.E142K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	142	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			ACAAAATACTCGGTGCCTAGG	0.602													T	40433845	C	T	40433845	3	4	259	1	0	0	0	0	1	0	0	0	5778	893	31	1	15933	1	FCGBP	19	40433845	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	21965430	40433845	18695138	104	129169											
DPRX	503834	broad.mit.edu	37	chr19	54137863	54137863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctgaacatcttgttcaAtgagaacccatacccaaacc	5	12	3	3			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:54137863A>G	uc002qcf.1	+	2	158	c.107A>G	c.(106-108)AAT>AGT	p.N36S		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	36	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATCTTGTTCAATGAGAACCCA	0.443													G	54137863	A	G	54137863	3	3	259	1	0	0	0	0	1	0	0	0	4738	101	4	3	113	3	DPRX	19	54137863	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08	13704018	54137863	4991120	105	129170											
ZNF835	90485	broad.mit.edu	37	chr19	57175194	57175194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggatcaggtaggagCggttgctgaaggccttgccg	18	8	1	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr19:57175194C>A	uc010ygo.1	-	2	1439	c.1439G>T	c.(1438-1440)CGC>CTC	p.R480L	ZNF835_uc010ygn.1_Missense_Mutation_p.R458L	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CAGGTAGGAGCGGTTGCTGAA	0.667													A	57175194	C	A	57175194	3	1	259	1	0	0	0	0	1	0	0	0	18183	768	27	5	242	5	ZNF835	19	57175194	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08	3037331	57175194	1953789	106	129171											
U2AF1	7307	broad.mit.edu	37	chr21	44514611	44514611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccatacagctcccgcCgcagctctctggaaatgggc	13	15	1	0			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr21:44514611C>T	uc002zda.1	-	7	629	c.545G>A	c.(544-546)CGG>CAG	p.R182Q	U2AF1_uc002zcy.1_Missense_Mutation_p.R109Q|U2AF1_uc002zcz.1_Missense_Mutation_p.R109Q|U2AF1_uc002zdb.1_Missense_Mutation_p.R182Q|U2AF1_uc010gpi.1_Missense_Mutation_p.R182Q	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	182	Arg/Gly/Ser-rich (RS domain).				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				0						CAGCTCCCGCCGCAGCTCTCT	0.547													T	44514611	C	T	44514611	3	4	259	1	0	0	0	0	1	0	0	0	16818	652	23	1	185	1	U2AF1	21	44514611	Missense_Mutation	SNP	C	TCGA-HU-8608-01A-11D-2394-08		44514611	3615284	107	129172											
LGALS2	3957	broad.mit.edu	37	chr22	37966653	37966653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagttgctgccgtccAatgagttgcagacaatggtg	12	12	0	2			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chr22:37966653A>G	uc003ata.2	-	3	291	c.179T>C	c.(178-180)TTG>TCG	p.L60S		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	60	Galectin.									breast(1)|skin(1)	2	Melanoma(58;0.0574)					GCTGCCGTCCAATGAGTTGCA	0.547													G	37966653	A	G	37966653	3	3	259	1	0	0	0	0	1	0	0	0	8742	131	5	3	227	3	LGALS2	22	37966653	Missense_Mutation	SNP	A	TCGA-HU-8608-01A-11D-2394-08		37966653	13337913	108	129173											
BCOR	54880	broad.mit.edu	37	chrX	39921997	39921997	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccggggtcaagaggtAccttgccatcggcattctcc	13	12	2	1			TCGA-HU-8608-01A-11D-2394-08	TCGA-HU-8608-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ee5dde-4342-4e78-88c5-3c9a8e10cbf5	0af3c4b6-0d9f-4630-b919-94bf0ec56529	g.chrX:39921997A>G	uc004den.3	-	9	4465	c.4173_splice	c.e9+1	p.K1391_splice	BCOR_uc004dep.3_Splice_Site_p.K1357_splice|BCOR_uc004deo.3_Splice_Site_p.K1339_splice|BCOR_uc010nhb.2_Intron|BCOR_uc004dem.3_Splice_Site_p.K1357_splice	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c						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			ovary(2)|kidney(1)|central_nervous_system(1)	4						GTCAAGAGGTACCTTGCCATC	0.577													G	39921997	A	G	39921997	5	3	259	1	0	0	0	0	0	0	1	0	1386	405	14	3	1120	3	BCOR	23	39921997	Splice_Site	SNP	A	TCGA-HU-8608-01A-11D-2394-08		39921997	115348563	109	129174											
FBXO44	93611	broad.mit.edu	37	chr1	11716012	11716012	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcagcctctggcgggacctCatcgacctcgtgaccctctg	11	16	3	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:11716012C>A	uc001asm.2	+	2	246	c.120C>A	c.(118-120)CTC>CTA	p.L40L	FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Silent_p.L40L|FBXO44_uc010oaq.1_Silent_p.L40L|FBXO44_uc001asl.2_Silent_p.L40L|FBXO44_uc001asn.2_Silent_p.L40L|FBXO44_uc010oar.1_Silent_p.L40L|FBXO44_uc010oas.1_5'UTR	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	40	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	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)		GGCGGGACCTCATCGACCTCG	0.632													A	11716012	C	A	11716012	2	1	260	1	0	0	0	0	0	0	0	1	5753	813	29	5		5	FBXO44	1	11716012	Silent	SNP	C	TCGA-HU-8610-01A-22D-2394-08		11716012	237534609	1	129175											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836227	12836227	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctttacatgcactctgtcTctttcctcgaaggccacctg	7	14	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:12836227T>A	uc001aui.2	+	2	856	c.829T>A	c.(829-831)TCT>ACT	p.S277T		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	277										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		GCACTCTGTCTCTTTCCTCGA	0.498													A	12836227	T	A	12836227	3	1	260	1	0	0	0	0	1	0	0	0	12428	1551	54	5	835	5	PRAMEF12	1	12836227	Missense_Mutation	SNP	T	TCGA-HU-8610-01A-22D-2394-08	1120215	12836227	236414394	2	129176											
YIPF1	54432	broad.mit.edu	37	chr1	54348919	54348919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtggcatctgggtttGctgtcagagaagtggctgca	16	7	2	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:54348919G>T	uc001cvu.2	-	4	399	c.62C>A	c.(61-63)GCA>GAA	p.A21E	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	21	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						ATCTGGGTTTGCTGTCAGAGA	0.453													T	54348919	G	T	54348919	3	4	260	1	0	0	0	0	1	0	0	0	17474	1319	46	5	886	5	YIPF1	1	54348919	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	41512692	54348919	194901702	3	129177											
KCNA3	3738	broad.mit.edu	37	chr1	111217025	111217025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtcgaagtacctcatgCgccgcttggggtcgcccagc	15	14	1	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:111217025C>T	uc001dzv.1	-	1	631	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	136						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		GTACCTCATGCGCCGCTTGGG	0.642													T	111217025	C	T	111217025	3	4	260	1	0	0	0	0	1	0	0	0	8004	768	27	1	1324	1	KCNA3	1	111217025	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	56868106	111217025	138033596	4	129178											
SPAG17	200162	broad.mit.edu	37	chr1	118616478	118616478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacagtccataaataccTgaagcagtactttcggttta	6	9	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:118616478T>C	uc001ehk.2	-	17	2452	c.2384A>G	c.(2383-2385)CAG>CGG	p.Q795R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	795						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	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)		CATAAATACCTGAAGCAGTAC	0.239													C	118616478	T	C	118616478	3	2	260	1	0	0	0	0	1	0	0	0	14979	1594	55	3	4415	3	SPAG17	1	118616478	Missense_Mutation	SNP	T	TCGA-HU-8610-01A-22D-2394-08	7399453	118616478	130634143	5	129179											
FLG	2312	broad.mit.edu	37	chr1	152282723	152282723	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccgtctcctgattgttcctCatttcttgtttgcctgcttg	8	12	3	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:152282723C>T	uc001ezu.1	-	3	4675	c.4639G>A	c.(4639-4641)GAG>AAG	p.E1547K		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTTCTTGTT	0.587									Ichthyosis				T	152282723	C	T	152282723	3	4	260	1	0	0	0	0	1	0	0	0	5922	835	29	4	7550	4	FLG	1	152282723	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	33666245	152282723	96967898	6	129180											
PIK3C2B	5287	broad.mit.edu	37	chr1	204433201	204433201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacccacgtccacattccTcaggtcatcatgggtgtagc	9	14	4	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:204433201T>C	uc001haw.2	-	6	1728	c.1249A>G	c.(1249-1251)AGG>GGG	p.R417G	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R417G|PIK3C2B_uc001hax.1_Missense_Mutation_p.R417G|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	417					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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			TCCACATTCCTCAGGTCATCA	0.547													C	204433201	T	C	204433201	3	2	260	1	0	0	0	0	1	0	0	0	11910	1550	54	3	3771	3	PIK3C2B	1	204433201	Missense_Mutation	SNP	T	TCGA-HU-8610-01A-22D-2394-08	52150478	204433201	44817420	7	129181											
OBSCN	84033	broad.mit.edu	37	chr1	228399516	228399516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagttcagcggggcgccccGctttctcacccggcccaagg	12	17	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr1:228399516G>A	uc009xez.1	+	2	76	c.32G>A	c.(31-33)CGC>CAC	p.R11H	OBSCN_uc001hsn.2_Missense_Mutation_p.R11H|uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	11	Ig-like 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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGGCGCCCCGCTTTCTCACC	0.662													A	228399516	G	A	228399516	3	1	260	1	0	0	0	0	1	0	0	0	10812	1087	38	1	34	1	OBSCN	1	228399516	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	23966315	228399516	20851105	8	129182											
LTBP1	4052	broad.mit.edu	37	chr2	33246091	33246091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgcccaggacacctcGtcaccagtctttggagggca	11	13	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:33246091G>A	uc002ros.2	+	3	681	c.681G>A	c.(679-681)TCG>TCA	p.S227S		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	227					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGGACACCTCGTCACCAGTCT	0.552													A	33246091	G	A	33246091	2	1	260	1	0	0	0	0	0	0	0	1	9073	1132	40	1		1	LTBP1	2	33246091	Silent	SNP	G	TCGA-HU-8610-01A-22D-2394-08		33246091	209953282	9	129183											
EIF2AK2	5610	broad.mit.edu	37	chr2	37365428	37365428	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataccataagcaacgaagaActgtttaaactgtcactgtt	7	8	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:37365428A>C	uc010ynh.1	-	8	1229	c.672T>G	c.(670-672)AGT>AGG	p.S224R	EIF2AK2_uc010fab.1_Missense_Mutation_p.S224R|EIF2AK2_uc010yng.1_Missense_Mutation_p.S224R|EIF2AK2_uc010fac.2_Missense_Mutation_p.S224R|EIF2AK2_uc010fad.2_Missense_Mutation_p.S224R	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	224					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				GCAACGAAGAACTGTTTAAAC	0.363													C	37365428	A	C	37365428	3	2	260	1	0	0	0	0	1	0	0	0	4997	40	2	5	1023	5	EIF2AK2	2	37365428	Missense_Mutation	SNP	A	TCGA-HU-8610-01A-22D-2394-08	4119337	37365428	205833945	10	129184											
GPR75	10936	broad.mit.edu	37	chr2	54080761	54080761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcagccctgcactgttcCgagaatatataaaagggttt	8	9	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:54080761C>T	uc002rxo.3	-	2	1404	c.1133G>A	c.(1132-1134)CGG>CAG	p.R378Q	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	378	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCACTGTTCCGAGAATATAT	0.423													T	54080761	C	T	54080761	3	4	260	1	0	0	0	0	1	0	0	0	6708	652	23	1	493	1	GPR75	2	54080761	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	16715333	54080761	189118612	11	129185											
COBLL1	22837	broad.mit.edu	37	chr2	165584554	165584554	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaagtcaagaggctcctGcgattgataatctttcaaca	8	9	4	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:165584554G>A	uc010zcw.1	-	6	869	c.745C>T	c.(745-747)CAG>TAG	p.Q249*	COBLL1_uc002ucp.2_Nonsense_Mutation_p.Q196*|COBLL1_uc002ucq.2_Nonsense_Mutation_p.Q196*|COBLL1_uc010zcx.1_Nonsense_Mutation_p.Q242*|COBLL1_uc002ucs.1_RNA	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	234										ovary(2)|pancreas(1)	3						AGAGGCTCCTGCGATTGATAA	0.378													A	165584554	G	A	165584554	4	1	260	1	0	0	0	0	0	1	0	0	3654	1328	46	2	2958	2	COBLL1	2	165584554	Nonsense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	111503793	165584554	77614819	12	129186											
TTN	7273	broad.mit.edu	37	chr2	179418418	179418418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctctccttgtcttatctCgacaacatacccagtaacag	4	14	3	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:179418418C>T	uc010zfg.1	-	283	81834	c.81610G>A	c.(81610-81612)GAG>AAG	p.E27204K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E20899K|TTN_uc010zfi.1_Missense_Mutation_p.E20832K|TTN_uc010zfj.1_Missense_Mutation_p.E20707K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28131							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTTATCTCGACAACATAC	0.463													T	179418418	C	T	179418418	3	4	260	1	0	0	0	0	1	0	0	0	16732	893	31	1	18781	1	TTN	2	179418418	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	13833864	179418418	63780955	13	129187											
TTN	7273	broad.mit.edu	37	chr2	179659907	179659907	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccacggtggatgcctgagtCttacgcatgagcaatggaga	14	9	1	3			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:179659907C>G	uc010zfg.1	-	7	1211	c.987G>C	c.(985-987)AAG>AAC	p.K329N	TTN_uc010zfh.1_Missense_Mutation_p.K329N|TTN_uc010zfi.1_Missense_Mutation_p.K329N|TTN_uc010zfj.1_Missense_Mutation_p.K329N|TTN_uc002unb.2_Missense_Mutation_p.K329N|TTN_uc010frg.1_Missense_Mutation_p.K3N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	329							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCCTGAGTCTTACGCATGA	0.547													G	179659907	C	G	179659907	3	3	260	1	0	0	0	0	1	0	0	0	16732	912	32	5	110425	5	TTN	2	179659907	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	241489	179659907	63539466	14	129188											
DYTN	391475	broad.mit.edu	37	chr2	207528029	207528029	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctgcaaataatcccctcCctttggaaccttttcagttg	6	12	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:207528029C>A	uc002vbr.1	-	11	1348	c.1231G>T	c.(1231-1233)GGA>TGA	p.G411*		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	411						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TAATCCCCTCCCTTTGGAACC	0.473													A	207528029	C	A	207528029	4	1	260	1	0	0	0	0	0	1	0	0	4861	632	22	5	513	5	DYTN	2	207528029	Nonsense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	27868122	207528029	35671344	15	129189											
SPEG	10290	broad.mit.edu	37	chr2	220353344	220353344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgagtgctcggccaccaaCgtactgggcagcatcaccag	11	13	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:220353344C>T	uc010fwg.2	+	33	7983	c.7983C>T	c.(7981-7983)AAC>AAT	p.N2661N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2661	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		CGGCCACCAACGTACTGGGCA	0.667													T	220353344	C	T	220353344	2	4	260	1	0	0	0	0	0	0	0	1	15035	535	19	1		1	SPEG	2	220353344	Silent	SNP	C	TCGA-HU-8610-01A-22D-2394-08	12825315	220353344	22846029	16	129190											
KIAA1486	57624	broad.mit.edu	37	chr2	226447619	226447619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgcggtgaacacctacGgggcagccccgggtggctcc	15	16	0	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:226447619G>A	uc002voe.2	+	4	1661	c.1486G>A	c.(1486-1488)GGG>AGG	p.G496R	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.G266R	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	496										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GAACACCTACGGGGCAGCCCC	0.687													A	226447619	G	A	226447619	3	1	260	1	0	0	0	0	1	0	0	0	8237	1116	39	1	1496	1	KIAA1486	2	226447619	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	6094275	226447619	16751754	17	129191											
COL4A3	1285	broad.mit.edu	37	chr2	228124582	228124582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcccagaggagctcGtggcccacaaggtaagaata	13	11	0	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:228124582G>A	uc002vom.1	+	19	1265	c.1103G>A	c.(1102-1104)CGT>CAT	p.R368H	COL4A3_uc002von.1_Missense_Mutation_p.R368H|COL4A3_uc002voo.1_Missense_Mutation_p.R368H|COL4A3_uc002vop.1_Missense_Mutation_p.R368H|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	368	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			skin(2)|ovary(1)	3		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)		AGAGGAGCTCGTGGCCCACAA	0.418													A	228124582	G	A	228124582	3	1	260	1	0	0	0	0	1	0	0	0	3691	1145	40	1	1177	1	COL4A3	2	228124582	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	1676963	228124582	15074791	18	129192											
ARMC9	80210	broad.mit.edu	37	chr2	232100085	232100085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctagaggccacagtcagCggcaagatggtaaggaagat	13	8	2	3			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr2:232100085C>T	uc002vrq.3	+	8	883	c.771C>T	c.(769-771)AGC>AGT	p.S257S	ARMC9_uc002vrp.3_Silent_p.S257S	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	257							binding			ovary(1)	1		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)		CCACAGTCAGCGGCAAGATGG	0.483													T	232100085	C	T	232100085	2	4	260	1	0	0	0	0	0	0	0	1	958	767	27	1		1	ARMC9	2	232100085	Silent	SNP	C	TCGA-HU-8610-01A-22D-2394-08	3975503	232100085	11099288	19	129193											
BSN	8927	broad.mit.edu	37	chr3	49680049	49680049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagaggccccggccaaaAgtgccaccgcagtgcccgct	13	16	0	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr3:49680049A>C	uc003cxe.3	+	3	1096	c.982A>C	c.(982-984)AGT>CGT	p.S328R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	328					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCGGCCAAAAGTGCCACCGC	0.672													C	49680049	A	C	49680049	3	2	260	1	0	0	0	0	1	0	0	0	1530	72	3	5	992	5	BSN	3	49680049	Missense_Mutation	SNP	A	TCGA-HU-8610-01A-22D-2394-08		49680049	148342381	20	129194											
ERC2	26059	broad.mit.edu	37	chr3	56207483	56207483	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagttcctaccttcatttcGatgacagtctggagagcctt	8	11	2	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr3:56207483G>A	uc003dhr.1	-	4	1396	c.1140C>T	c.(1138-1140)ATC>ATT	p.I380I		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	380	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTCATTTCGATGACAGTCT	0.468													A	56207483	G	A	56207483	2	1	260	1	0	0	0	0	0	0	0	1	5211	1048	37	1		1	ERC2	3	56207483	Silent	SNP	G	TCGA-HU-8610-01A-22D-2394-08	6527434	56207483	141814947	21	129195											
ANK2	287	broad.mit.edu	37	chr4	114264209	114264209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctacgttgattgtttcGgcaacttggtaccattaact	7	10	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr4:114264209G>A	uc003ibe.3	+	34	4259	c.4159G>A	c.(4159-4161)GGC>AGC	p.G1387S	ANK2_uc003ibd.3_Missense_Mutation_p.G1378S|ANK2_uc003ibf.3_Missense_Mutation_p.G1387S|ANK2_uc011cgc.1_Missense_Mutation_p.G563S|ANK2_uc003ibg.3_Missense_Mutation_p.G382S|ANK2_uc003ibh.3_Missense_Mutation_p.G61S|ANK2_uc011cgb.1_Missense_Mutation_p.G1402S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1354					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGATTGTTTCGGCAACTTGGT	0.338													A	114264209	G	A	114264209	3	1	260	1	0	0	0	0	1	0	0	0	621	1116	39	1	4358	1	ANK2	4	114264209	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08		114264209	76890067	22	129196											
KIAA1109	84162	broad.mit.edu	37	chr4	123236709	123236720	+	In_Frame_Del	DEL	AATGCTCTGGGC	AATGCTCTGGGC	-													ctaacattggcaaaaggcttAatgctctgggcaatactctt							TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr4:123236708_123236719TAATGCTCTGGGC>T	uc003ieh.3	+	58	10449_10460	c.10404_10415TAATGCTCTGGGC>T	c.(10402-10416)cttaatgctctgggc>ctTc	p.NALG3469del	KIAA1109_uc003iel.1_In_Frame_Del_p.NALG1404del	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3469					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						GCAAAAGGCTTAATGCTCTGGGCAATACTCTT	0.415													-	123236720	AATGCTCTGGGC	-	123236709	7	5	260	1	0	1	0	1	0	0	0	0	8208	362	13	0	10639	0	KIAA1109	4	123236709	In_Frame_Del	DEL	AATGCTCTGGGC	TCGA-HU-8610-01A-22D-2394-08	8972500	123236709	67917567	23	129197											
PCDHA7	56141	broad.mit.edu	37	chr5	140215213	140215213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacagcgctctggaccgCgagagtgtgtccgcctatga	14	12	1	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr5:140215213C>T	uc003lhq.2	+	1	1245	c.1245C>T	c.(1243-1245)CGC>CGT	p.R415R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R415R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	415	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGACCGCGAGAGTGTGT	0.617													T	140215213	C	T	140215213	2	4	260	1	0	0	0	0	0	0	0	1	11529	755	27	1		1	PCDHA7	5	140215213	Silent	SNP	C	TCGA-HU-8610-01A-22D-2394-08		140215213	40700047	24	129198											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769318	140769318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctggggctgcgcacgggcGaagtgcgcacagcgcgtgcc	18	14	0	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr5:140769318G>A	uc003lkc.1	+	1	1867	c.1867G>A	c.(1867-1869)GAA>AAA	p.E623K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E623K	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	623	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGGCGAAGTGCGCAC	0.697													A	140769318	G	A	140769318	3	1	260	1	0	0	0	0	1	0	0	0	11565	1059	37	1	1869	1	PCDHGB4	5	140769318	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	554105	140769318	40145942	25	129199											
GRIA1	2890	broad.mit.edu	37	chr5	153077664	153077664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgatgcccaagctgggGgcgataattcaagtgttcag	12	11	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr5:153077664G>A	uc003lva.3	+	9	1560	c.1195G>A	c.(1195-1197)GGC>AGC	p.G399S	GRIA1_uc003luy.3_Missense_Mutation_p.G399S|GRIA1_uc003luz.3_Missense_Mutation_p.G304S|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G319S|GRIA1_uc011dcx.1_Missense_Mutation_p.G330S|GRIA1_uc011dcy.1_Missense_Mutation_p.G409S|GRIA1_uc011dcz.1_Missense_Mutation_p.G409S|GRIA1_uc010jia.1_Missense_Mutation_p.G379S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	399	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	CCAAGCTGGGGGCGATAATTC	0.478													A	153077664	G	A	153077664	3	1	260	1	0	0	0	0	1	0	0	0	6767	1232	43	4	1229	4	GRIA1	5	153077664	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	12308346	153077664	27837596	26	129200											
DOCK2	1794	broad.mit.edu	37	chr5	169435708	169435708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggtatggggacatgagaCggctaattggcttctccatc	12	9	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr5:169435708C>T	uc003maf.2	+	32	3270	c.3190C>T	c.(3190-3192)CGG>TGG	p.R1064W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R556W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1064	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			ovary(5)|pancreas(2)	7	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)			GGACATGAGACGGCTAATTGG	0.483													T	169435708	C	T	169435708	3	4	260	1	0	0	0	0	1	0	0	0	4687	527	19	1	3316	1	DOCK2	5	169435708	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	16358044	169435708	11479552	27	129201											
ABCC10	89845	broad.mit.edu	37	chr6	43406375	43406375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggctgcgtgggcatGtggcagtgcgggggctgtcc	19	10	1	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr6:43406375G>A	uc003ouy.1	+	8	2184	c.1969G>A	c.(1969-1971)GTG>ATG	p.V657M	ABCC10_uc003ouz.1_Missense_Mutation_p.V629M|ABCC10_uc010jyo.1_Translation_Start_Site	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	657	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(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)			GCGTGGGCATGTGGCAGTGCG	0.612													A	43406375	G	A	43406375	3	1	260	1	0	0	0	0	1	0	0	0	50	1377	48	4	1907	4	ABCC10	6	43406375	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08		43406375	127708692	28	129202											
STYXL1	51657	broad.mit.edu	37	chr7	75643121	75643121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcctgagaagcgctcaTagccccctttcaggatgtag	11	12	2	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr7:75643121T>C	uc003uej.3	-	5	565	c.392A>G	c.(391-393)TAT>TGT	p.Y131C	STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_Intron|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Missense_Mutation_p.Y131C|STYXL1_uc003uem.2_Missense_Mutation_p.Y131C|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Missense_Mutation_p.Y131C|STYXL1_uc003uen.1_Missense_Mutation_p.Y131C	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	131	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						GAAGCGCTCATAGCCCCCTTT	0.582													C	75643121	T	C	75643121	3	2	260	1	0	0	0	0	1	0	0	0	15360	1406	49	3	569	3	STYXL1	7	75643121	Missense_Mutation	SNP	T	TCGA-HU-8610-01A-22D-2394-08		75643121	83495542	29	129203											
LRRN3	54674	broad.mit.edu	37	chr7	110764041	110764041	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccacctgaattccaaggtCagaatgttcggcaagtgcat	9	11	1	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr7:110764041C>T	uc003vft.3	+	4	2259	c.1213C>T	c.(1213-1215)CAG>TAG	p.Q405*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.Q405*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.Q405*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	405	Extracellular (Potential).|LRRCT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		ATTCCAAGGTCAGAATGTTCG	0.448													T	110764041	C	T	110764041	4	4	260	1	0	0	0	0	0	1	0	0	9036	827	29	4	1215	4	LRRN3	7	110764041	Nonsense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	35120920	110764041	48374622	30	129204											
SLC13A1	6561	broad.mit.edu	37	chr7	122765622	122765622	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattataaatgatactcaaCcaatttctcctgtaggtgta	6	7	2	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr7:122765622C>A	uc003vkm.2	-	11	1265	c.1240_splice	c.e11+1	p.V414_splice	SLC13A1_uc010lks.2_Splice_Site_p.V290_splice	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate							integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TGATACTCAACCAATTTCTCC	0.358													A	122765622	C	A	122765622	5	1	260	1	0	0	0	0	0	0	1	0	14391	521	18	5	566	5	SLC13A1	7	122765622	Splice_Site	SNP	C	TCGA-HU-8610-01A-22D-2394-08	12001581	122765622	36373041	31	129205											
BLK	640	broad.mit.edu	37	chr8	11400775	11400775	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccggacaaggaaaagccGatcaaagagaaggacaaggg	14	7	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr8:11400775G>A	uc003wty.2	+	2	623	c.42G>A	c.(40-42)CCG>CCA	p.P14P	BLK_uc003wtz.2_Intron	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	14					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AGGAAAAGCCGATCAAAGAGA	0.607													A	11400775	G	A	11400775	2	1	260	1	0	0	0	0	0	0	0	1	1444	1045	37	1		1	BLK	8	11400775	Silent	SNP	G	TCGA-HU-8610-01A-22D-2394-08		11400775	134963247	32	129206											
PXDNL	137902	broad.mit.edu	37	chr8	52322023	52322023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttcgcatggaaacaccGgttggagcagtttggcagag	14	8	0	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr8:52322023G>A	uc003xqu.3	-	17	2262	c.2161C>T	c.(2161-2163)CGG>TGG	p.R721W	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	721					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGAAACACCGGTTGGAGCAG	0.632													A	52322023	G	A	52322023	3	1	260	1	0	0	0	0	1	0	0	0	12848	1115	39	1	2258	1	PXDNL	8	52322023	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	40921248	52322023	94041999	33	129207											
RGS20	8601	broad.mit.edu	37	chr8	54871000	54871000	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgcttcagtccttatcggaGaaatctattgaagcatagga	9	7	2	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr8:54871000G>T	uc003xrp.2	+	6	1241	c.1149G>T	c.(1147-1149)GAG>GAT	p.E383D	RGS20_uc003xrq.2_Missense_Mutation_p.E268D|RGS20_uc010lye.2_Missense_Mutation_p.E175D|RGS20_uc010lyf.2_Missense_Mutation_p.E147D|RGS20_uc003xrs.2_Missense_Mutation_p.E236D|RGS20_uc003xrt.2_Missense_Mutation_p.E117D	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	383					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CCTTATCGGAGAAATCTATTG	0.343													T	54871000	G	T	54871000	3	4	260	1	0	0	0	0	1	0	0	0	13303	933	33	5	1244	5	RGS20	8	54871000	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	2548977	54871000	91493022	34	129208											
TG	7038	broad.mit.edu	37	chr8	133925324	133925324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaaggatctccttgggCgcttcacagatctgatccag	12	11	3	2	rs140482581	byFrequency	TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr8:133925324C>T	uc003ytw.2	+	20	4233	c.4192C>T	c.(4192-4194)CGC>TGC	p.R1398C	TG_uc010mdw.2_Missense_Mutation_p.R157C	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1398					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TCTCCTTGGGCGCTTCACAGA	0.552													T	133925324	C	T	133925324	3	4	260	1	0	0	0	0	1	0	0	0	15810	768	27	1	4270	1	TG	8	133925324	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	79054324	133925324	12438698	35	129209											
CER1	9350	broad.mit.edu	37	chr9	14720143	14720143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccagcatgtaggatgtgtCcatcttcatgctccgtcttc	9	12	3	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr9:14720143C>T	uc003zlj.2	-	2	794	c.749G>A	c.(748-750)GGA>GAA	p.G250E		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	250					BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)		TAGGATGTGTCCATCTTCATG	0.493													T	14720143	C	T	14720143	3	4	260	1	0	0	0	0	1	0	0	0	3265	855	30	4	58	4	CER1	9	14720143	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08		14720143	126493288	36	129210											
TRIM32	22954	broad.mit.edu	37	chr9	119461675	119461675	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctggagggtggcttttccAttggctctgtaggccctgat	13	10	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr9:119461675A>T	uc004bjx.2	+	2	1812	c.1654A>T	c.(1654-1656)ATT>TTT	p.I552F	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.I552F	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	552					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			central_nervous_system(2)|kidney(1)	3						TGGCTTTTCCATTGGCTCTGT	0.562									Bardet-Biedl_syndrome				T	119461675	A	T	119461675	3	4	260	1	0	0	0	0	1	0	0	0	16503	217	8	5	1656	5	TRIM32	9	119461675	Missense_Mutation	SNP	A	TCGA-HU-8610-01A-22D-2394-08	104741532	119461675	21751756	37	129211											
CACNA1B	774	broad.mit.edu	37	chr9	140773594	140773594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgatggggacaaaacgCccatgtccgagcggctggtg	14	12	0	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr9:140773594C>T	uc004cog.2	+	2	518	c.373C>T	c.(373-375)CCC>TCC	p.P125S	uc004cof.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	125	I.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGACAAAACGCCCATGTCCGA	0.612													T	140773594	C	T	140773594	3	4	260	1	0	0	0	0	1	0	0	0	2539	739	26	2	379	2	CACNA1B	9	140773594	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	21311919	140773594	439837	38	129212											
NSUN6	221078	broad.mit.edu	37	chr10	18835004	18835004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacagccgatggatcaaatCgctgcagctgtttcaactgt	10	11	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr10:18835004C>T	uc010qcp.1	-	11	1686	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	NSUN6_uc001iqb.2_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	423							methyltransferase activity|RNA binding			ovary(2)	2						TGGATCAAATCGCTGCAGCTG	0.488													T	18835004	C	T	18835004	3	4	260	1	0	0	0	0	1	0	0	0	10682	884	31	1	145	1	NSUN6	10	18835004	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08		18835004	116699743	39	129213											
ZNF488	118738	broad.mit.edu	37	chr10	48371149	48371149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacctcgcttgttggggtcGactttcaactcccaagcttt	9	12	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr10:48371149G>A	uc001jex.2	+	2	779	c.617G>A	c.(616-618)CGA>CAA	p.R206Q	ZNF488_uc001jey.2_Missense_Mutation_p.R99Q	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTTGGGGTCGACTTTCAACT	0.537													A	48371149	G	A	48371149	3	1	260	1	0	0	0	0	1	0	0	0	17937	1058	37	1	619	1	ZNF488	10	48371149	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	29536145	48371149	87163598	40	129214											
CDH23	64072	broad.mit.edu	37	chr10	73270759	73270759	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagcgaccaccaggggGtgagtgttccctggggccct	15	13	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr10:73270759G>A	uc001jrx.3	+	5	713	c.336_splice	c.e5+1	p.G112_splice	CDH23_uc001jrw.3_Splice_Site_p.G112_splice|CDH23_uc001jrv.2_Splice_Site_p.G107_splice|CDH23_uc009xql.2_Splice_Site_p.G157_splice	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor						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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCACCAGGGGGTGAGTGTTCC	0.602													A	73270759	G	A	73270759	5	1	260	1	0	0	0	0	0	0	1	0	3108	1275	44	4	351	4	CDH23	10	73270759	Splice_Site	SNP	G	TCGA-HU-8610-01A-22D-2394-08	24899610	73270759	62263988	41	129215											
ZNF511	118472	broad.mit.edu	37	chr10	135123307	135123307	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttgcctgccaggtggcCggctgctgccaggtgttcga	16	12	0	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr10:135123307C>G	uc001lml.1	+	3	280	c.255C>G	c.(253-255)GCC>GCG	p.A85A	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Silent_p.A85A|ZNF511_uc001lmk.1_Silent_p.A85A|ZNF511_uc001lmm.1_RNA			Q8NB15	ZN511_HUMAN	SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;	85	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GCCAGGTGGCCGGCTGCTGCC	0.617													G	135123307	C	G	135123307	2	3	260	1	0	0	0	0	0	0	0	1	17952	639	23	5		5	ZNF511	10	135123307	Silent	SNP	C	TCGA-HU-8610-01A-22D-2394-08	61852548	135123307	411440	42	129216											
NTF3	4908	broad.mit.edu	37	chr12	5603609	5603610	+	Frame_Shift_Ins	INS	-	-	C													agagccggagcggggagggcINSccgccaagtcagcattccag							TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr12:5603608_5603609G>GC	uc001qnl.4	+	0	311_312	c.228_229G>GC	c.(226-231)gggcccfs	p.G76fs	NTF3_uc001qnk.4_Frame_Shift_Ins_p.G89fs	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	76			G -> E (in dbSNP:rs1805149).		signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579													C	5603610	-	C	5603609	7	5	260	1	0	1	1	0	0	0	0	0	10696	739	26	0	274	0	NTF3	12	5603609	Frame_Shift_Ins	INS	-	TCGA-HU-8610-01A-22D-2394-08		5603609	128248286	43	129217											
PRB3	5544	broad.mit.edu	37	chr12	11420535	11420535	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggacgaggtgggggaccTtgggactggtttcctccttg	16	11	0	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr12:11420535T>G	uc001qzs.2	-	3	686	c.648A>C	c.(646-648)CAA>CAC	p.Q216H	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	216	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GTGGGGGACCTTGGGACTGGT	0.622													G	11420535	T	G	11420535	3	3	260	1	0	0	0	0	1	0	0	0	12444	1606	56	5	289	5	PRB3	12	11420535	Missense_Mutation	SNP	T	TCGA-HU-8610-01A-22D-2394-08	5816926	11420535	122431360	44	129218											
NAV3	89795	broad.mit.edu	37	chr12	78444643	78444643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccccatgacctggaggttGggccaggcatgtccgcgact	13	14	0	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr12:78444643G>T	uc001syp.2	+	11	2405	c.2232G>T	c.(2230-2232)TTG>TTT	p.L744F	NAV3_uc001syo.2_Missense_Mutation_p.L744F|NAV3_uc010sub.1_Missense_Mutation_p.L244F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	744						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CCTGGAGGTTGGGCCAGGCAT	0.572										HNSCC(70;0.22)			T	78444643	G	T	78444643	3	4	260	1	0	0	0	0	1	0	0	0	10185	1339	47	5	2274	5	NAV3	12	78444643	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	67024108	78444643	55407252	45	129219											
PLA2G1B	5319	broad.mit.edu	37	chr12	120763700	120763701	+	Frame_Shift_Ins	INS	-	-	CA													gggggtgcctgagccccccaINSagccacagtagcagccgtag					rs78096484		TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr12:120763699_120763700C>CCA	uc001tyd.3	-	1	194_195	c.158_159G>TGG	c.(157-159)ttgfs	p.L53fs	PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	53					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 DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|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)					CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CA	120763701	-	CA	120763700	7	5	260	1	0	1	1	0	0	0	0	0	11994	131	5	0	300	0	PLA2G1B	12	120763700	Frame_Shift_Ins	INS	-	TCGA-HU-8610-01A-22D-2394-08	42319057	120763700	13088195	46	129220											
SOS2	6655	broad.mit.edu	37	chr14	50666457	50666457	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgagatatttcataAtgccggatattaaaaacata	6	7	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr14:50666457A>T	uc001wxs.3	-	4	560	c.462T>A	c.(460-462)CAT>CAA	p.H154Q	SOS2_uc010tql.1_Missense_Mutation_p.H154Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	154					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			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATATTTCATAATGCCGGATAT	0.318													T	50666457	A	T	50666457	3	4	260	1	0	0	0	0	1	0	0	0	14937	98	4	5	3616	5	SOS2	14	50666457	Missense_Mutation	SNP	A	TCGA-HU-8610-01A-22D-2394-08		50666457	56683083	47	129221											
PTGDR	5729	broad.mit.edu	37	chr14	52734889	52734889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttctttgggctctcctcGacactgcaactcctggccat	7	16	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr14:52734889G>A	uc001wzq.2	+	1	459	c.357G>A	c.(355-357)TCG>TCA	p.S119S		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	119	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGCTCTCCTCGACACTGCAAC	0.617													A	52734889	G	A	52734889	2	1	260	1	0	0	0	0	0	0	0	1	12741	1045	37	1		1	PTGDR	14	52734889	Silent	SNP	G	TCGA-HU-8610-01A-22D-2394-08	2068432	52734889	54614651	48	129222											
TP53BP1	7158	broad.mit.edu	37	chr15	43748491	43748491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttcacaagaaacatcaactCtgggagatggctctttcaca	8	10	5	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr15:43748491C>T	uc001zrs.2	-	12	2448	c.2300G>A	c.(2299-2301)AGA>AAA	p.R767K	TP53BP1_uc010udp.1_Missense_Mutation_p.R767K|TP53BP1_uc001zrq.3_Missense_Mutation_p.R772K|TP53BP1_uc001zrr.3_Missense_Mutation_p.R772K|TP53BP1_uc010udq.1_Missense_Mutation_p.R772K	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	767					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			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		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)		AACATCAACTCTGGGAGATGG	0.453								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					T	43748491	C	T	43748491	3	4	260	1	0	0	0	0	1	0	0	0	16380	913	32	4	3686	4	TP53BP1	15	43748491	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08		43748491	58782901	49	129223											
SLC24A5	283652	broad.mit.edu	37	chr15	48429089	48429089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaatcaagaactgatagtgGaatattttatgaagattctg	9	4	2	4			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr15:48429089G>A	uc001zwe.2	+	6	873	c.800G>A	c.(799-801)GGA>GAA	p.G267E	SLC24A5_uc010bel.2_Missense_Mutation_p.G207E|uc001zwf.1_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	267	Cytoplasmic (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		ACTGATAGTGGAATATTTTAT	0.413													A	48429089	G	A	48429089	3	1	260	1	0	0	0	0	1	0	0	0	14469	1174	41	4	822	4	SLC24A5	15	48429089	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	4680598	48429089	54102303	50	129224											
PIGW	284098	broad.mit.edu	37	chr17	34893858	34893858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtctattaaatgccaaccGcgaaggaataatctctaccc	7	11	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr17:34893858G>T	uc002hmy.1	+	2	951	c.908G>T	c.(907-909)CGC>CTC	p.R303L	MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.R303L	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	303					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATGCCAACCGCGAAGGAATA	0.433													T	34893858	G	T	34893858	3	4	260	1	0	0	0	0	1	0	0	0	11902	1087	38	5	910	5	PIGW	17	34893858	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08		34893858	46301352	51	129225											
KRT31	3881	broad.mit.edu	37	chr17	39553526	39553526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgctgagaccgctccCggatgaggttctccagctcc	11	16	1	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr17:39553526C>T	uc002hwn.2	-	1	319	c.266G>A	c.(265-267)CGG>CAG	p.R89Q	KRT31_uc010cxn.2_Missense_Mutation_p.R89Q	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	89	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				AGACCGCTCCCGGATGAGGTT	0.587													T	39553526	C	T	39553526	3	4	260	1	0	0	0	0	1	0	0	0	8467	652	23	1	1012	1	KRT31	17	39553526	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	4659668	39553526	41641684	52	129226											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	260	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-HU-8610-01A-22D-2394-08	16832858	56386384	24808826	53	129227											
LAMA1	284217	broad.mit.edu	37	chr18	7011407	7011407	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgggggcctggtagtaaacCccctcggtcgtgcccctcaa	12	15	1	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr18:7011407C>G	uc002knm.2	-	25	3673	c.3579G>C	c.(3577-3579)GGG>GGC	p.G1193G	LAMA1_uc010wzj.1_Silent_p.G669G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1193	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAGTAAACCCCCTCGGTCG	0.607													G	7011407	C	G	7011407	2	3	260	1	0	0	0	0	0	0	0	1	8605	610	22	5		5	LAMA1	18	7011407	Silent	SNP	C	TCGA-HU-8610-01A-22D-2394-08		7011407	71065841	54	129228											
ANKRD12	23253	broad.mit.edu	37	chr18	9204526	9204526	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagacttatatcttcTtacaggacatactcaggtaa	10	7	3	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr18:9204526T>G	uc002knv.2	+	4	545	c.288T>G	c.(286-288)TCT>TCG	p.S96S	ANKRD12_uc010wzn.1_Silent_p.S96S|ANKRD12_uc002knw.2_Intron|ANKRD12_uc002knx.2_Intron	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	96						nucleus				ovary(2)|central_nervous_system(1)	3						TTATATCTTCTTACAGGACAT	0.373													G	9204526	T	G	9204526	2	3	260	1	0	0	0	0	0	0	0	1	640	1596	56	5		5	ANKRD12	18	9204526	Silent	SNP	T	TCGA-HU-8610-01A-22D-2394-08	2193119	9204526	68872722	55	129229											
RNF165	494470	broad.mit.edu	37	chr18	44013236	44013236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcagccgcagcagctcGctcccgacttcccgctggcc	10	22	0	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr18:44013236G>A	uc002lcb.1	+	2	196	c.145G>A	c.(145-147)GCT>ACT	p.A49T	RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	49							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		GCAGCAGCTCGCTCCCGACTT	0.706													A	44013236	G	A	44013236	3	1	260	1	0	0	0	0	1	0	0	0	13456	1087	38	1	151	1	RNF165	18	44013236	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	34808710	44013236	34064012	56	129230											
CCBE1	147372	broad.mit.edu	37	chr18	57107014	57107014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagggcctggcataccGgggaagcctgggcttccctt	15	13	0	0	rs151243930		TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr18:57107014G>A	uc002lib.2	-	8	880	c.810C>T	c.(808-810)CCC>CCT	p.P270P	CCBE1_uc010dpq.2_Intron|CCBE1_uc002lia.2_Silent_p.P123P	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	270	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)				CTGGCATACCGGGGAAGCCTG	0.602													A	57107014	G	A	57107014	2	1	260	1	0	0	0	0	0	0	0	1	2731	1103	39	1		1	CCBE1	18	57107014	Silent	SNP	G	TCGA-HU-8610-01A-22D-2394-08	13093778	57107014	20970234	57	129231											
APBA3	9546	broad.mit.edu	37	chr19	3752514	3752514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaactcacgcggacagCggcctggcacgcagccaggg	15	14	1	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:3752514C>T	uc002lyp.1	-	8	1564	c.1387G>A	c.(1387-1389)GCT>ACT	p.A463T	APBA3_uc002lyo.1_Missense_Mutation_p.A221T	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	463	PDZ 1.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		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)		ACGCGGACAGCGGCCTGGCAC	0.716													T	3752514	C	T	3752514	3	4	260	1	0	0	0	0	1	0	0	0	758	768	27	1	356	1	APBA3	19	3752514	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08		3752514	55376469	58	129232											
MAP2K7	5609	broad.mit.edu	37	chr19	7977041	7977041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctctagccttactAaagatcacaggaagagacca	7	11	3	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:7977041A>G	uc002mit.2	+	10	1152	c.1087A>G	c.(1087-1089)AAA>GAA	p.K363E	MAP2K7_uc002miv.2_Missense_Mutation_p.K370E|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.K370E|MAP2K7_uc010dvv.2_Missense_Mutation_p.K238E	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	363	Protein kinase.				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	TAGCCTTACTAAAGATCACAG	0.602													G	7977041	A	G	7977041	3	3	260	1	0	0	0	0	1	0	0	0	9242	363	13	3	1125	3	MAP2K7	19	7977041	Missense_Mutation	SNP	A	TCGA-HU-8610-01A-22D-2394-08	4224527	7977041	51151942	59	129233											
FBXL12	54850	broad.mit.edu	37	chr19	9922033	9922033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgcaaggcccggaagcGcgtcaggccctgcaggtgct	16	14	1	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:9922033G>A	uc002mme.2	-	3	762	c.520C>T	c.(520-522)CGC>TGC	p.R174C	FBXL12_uc002mmd.2_Missense_Mutation_p.R121C|FBXL12_uc002mmf.2_Missense_Mutation_p.R121C|FBXL12_uc002mmg.2_Missense_Mutation_p.R121C|FBXL12_uc002mmh.2_Missense_Mutation_p.R121C	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	174	LRR 4.						protein binding			lung(1)|kidney(1)	2						GCCCGGAAGCGCGTCAGGCCC	0.667													A	9922033	G	A	9922033	3	1	260	1	0	0	0	0	1	0	0	0	5708	1087	38	1	464	1	FBXL12	19	9922033	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	1944992	9922033	49206950	60	129234											
TSHZ3	57616	broad.mit.edu	37	chr19	31769921	31769921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatttccagcaaggagcGtttgcgaggcttggaccagc	12	11	0	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:31769921G>A	uc002nsy.3	-	2	843	c.778C>T	c.(778-780)CGC>TGC	p.R260C		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	260					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					AGCAAGGAGCGTTTGCGAGGC	0.557													A	31769921	G	A	31769921	3	1	260	1	0	0	0	0	1	0	0	0	16622	1145	40	1	2471	1	TSHZ3	19	31769921	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	21847888	31769921	27359062	61	129235											
LRFN3	79414	broad.mit.edu	37	chr19	36431169	36431169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctgctctgggcggccGctacttctgggcggtgggcg	16	15	2	0			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:36431169G>A	uc002oco.2	+	2	1294	c.842G>A	c.(841-843)CGC>CAC	p.R281H		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	281	LRRCT.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			CTGGGCGGCCGCTACTTCTGG	0.721													A	36431169	G	A	36431169	3	1	260	1	0	0	0	0	1	0	0	0	8939	1087	38	1	844	1	LRFN3	19	36431169	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	4661248	36431169	22697814	62	129236											
SIGLEC10	89790	broad.mit.edu	37	chr19	51920084	51920084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggagagggcagcccccGtccaggagaaagaagggggt	20	8	0	3			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:51920084G>A	uc002pwo.2	-	3	1158	c.542C>T	c.(541-543)ACG>ATG	p.T181M	SIGLEC10_uc002pwp.2_Intron|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T181M|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T181M|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Translation_Start_Site|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	181	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGCAGCCCCCGTCCAGGAGAA	0.612													A	51920084	G	A	51920084	3	1	260	1	0	0	0	0	1	0	0	0	14306	1145	40	1	1587	1	SIGLEC10	19	51920084	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	15488915	51920084	7208899	63	129237											
ZNF835	90485	broad.mit.edu	37	chr19	57175776	57175776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctggtggcggatgagcGctgaggagaagcggaaggcc	20	8	0	3			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:57175776G>A	uc010ygo.1	-	2	857	c.857C>T	c.(856-858)GCG>GTG	p.A286V	ZNF835_uc010ygn.1_Missense_Mutation_p.A264V	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GCGGATGAGCGCTGAGGAGAA	0.672													A	57175776	G	A	57175776	3	1	260	1	0	0	0	0	1	0	0	0	18183	1087	38	1	824	1	ZNF835	19	57175776	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08	5255692	57175776	1953207	64	129238											
ZNF418	147686	broad.mit.edu	37	chr19	58438782	58438782	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctccacattcataaggtCttttcccagtgtgaactctc	5	12	4	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr19:58438782C>A	uc002qqs.1	-	4	1059	c.767G>T	c.(766-768)AGA>ATA	p.R256I	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.R171I	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TTCATAAGGTCTTTTCCCAGT	0.423													A	58438782	C	A	58438782	3	1	260	1	0	0	0	0	1	0	0	0	17892	913	32	5	1267	5	ZNF418	19	58438782	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	1263006	58438782	690201	65	129239											
STK4	6789	broad.mit.edu	37	chr20	43625835	43625835	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgattcctacaaatcCtcctcccacattccgaaaac	2	16	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr20:43625835C>G	uc002xnb.2	+	7	809	c.719C>G	c.(718-720)CCT>CGT	p.P240R	STK4_uc010ggx.2_Missense_Mutation_p.P240R|STK4_uc010ggy.2_Missense_Mutation_p.P185R|STK4_uc010ggw.1_Missense_Mutation_p.P240R	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	240	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			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CCTACAAATCCTCCTCCCACA	0.388													G	43625835	C	G	43625835	3	3	260	1	0	0	0	0	1	0	0	0	15305	681	24	5	745	5	STK4	20	43625835	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08		43625835	19399685	66	129240											
TH1L	51497	broad.mit.edu	37	chr20	57561860	57561860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttatccagctcttatctgaAaactacaccgctgtggccca	7	13	2	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr20:57561860A>C	uc002yag.2	+	3	282	c.255A>C	c.(253-255)GAA>GAC	p.E85D	TH1L_uc010zzu.1_Missense_Mutation_p.E85D|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.E85D	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	85					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			TCTTATCTGAAAACTACACCG	0.507													C	57561860	A	C	57561860	3	2	260	1	0	0	0	0	1	0	0	0	15836	11	1	5	265	5	TH1L	20	57561860	Missense_Mutation	SNP	A	TCGA-HU-8610-01A-22D-2394-08	13936025	57561860	5463660	67	129241											
PRPF6	24148	broad.mit.edu	37	chr20	62657327	62657327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagatctggctggcagcCgtgaagctggagtccgagaa	17	8	1	3	rs151332876	by1000genomes	TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr20:62657327C>T	uc002yho.2	+	15	2112	c.1944C>T	c.(1942-1944)GCC>GCT	p.A648A	PRPF6_uc002yhp.2_Intron	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	648	HAT 6.				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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGCTGGCAGCCGTGAAGCTGG	0.647													T	62657327	C	T	62657327	2	4	260	1	0	0	0	0	0	0	0	1	12574	639	23	1		1	PRPF6	20	62657327	Silent	SNP	C	TCGA-HU-8610-01A-22D-2394-08	5095467	62657327	368193	68	129242											
MYT1	4661	broad.mit.edu	37	chr20	62839435	62839440	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-													aggaggaagaggaagaggagGaggaagaggaagaggaagag					rs143133195	byFrequency	TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr20:62839434_62839439GGAGGAA>G	uc002yii.3	+	6	1249_1254	c.885_890GGAGGAA>G	c.(883-891)gaggaggaa>gaGa	p.295_297EEE>E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	295	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E295K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaagaggaggaggaagaggaagag	0.583													-	62839440	GAGGAA	-	62839435	7	5	260	1	0	1	0	1	0	0	0	0	10106	1175	41	0	904	0	MYT1	20	62839435	In_Frame_Del	DEL	GAGGAA	TCGA-HU-8610-01A-22D-2394-08	182108	62839435	186085	69	129243											
CECR2	27443	broad.mit.edu	37	chr22	17983950	17983950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaatggagacaggtcaccGagagttttcgcgagaggacc	15	8	1	3			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chr22:17983950G>A	uc010gqw.1	+	6	772	c.646G>A	c.(646-648)GAG>AAG	p.E216K	CECR2_uc010gqv.1_Missense_Mutation_p.E95K|CECR2_uc002zml.2_Missense_Mutation_p.E95K|CECR2_uc002zmm.1_Missense_Mutation_p.E95K	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	258					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		ACAGGTCACCGAGAGTTTTCG	0.542													A	17983950	G	A	17983950	3	1	260	1	0	0	0	0	1	0	0	0	3206	1059	37	1	670	1	CECR2	22	17983950	Missense_Mutation	SNP	G	TCGA-HU-8610-01A-22D-2394-08		17983950	33320616	70	129244											
MAGEB1	4112	broad.mit.edu	37	chrX	30269612	30269612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccacgacttttagagcGcgttctagagccccattcag	9	13	2	2	rs148758545	byFrequency	TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chrX:30269612G>A	uc004dcc.2	+	4	1322	c.1002G>A	c.(1000-1002)GCG>GCA	p.A334A	MAGEB1_uc004dcd.2_Silent_p.A334A|MAGEB1_uc004dce.2_Silent_p.A334A	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	334											0						CTTTTAGAGCGCGTTCTAGAG	0.507													A	30269612	G	A	30269612	2	1	260	1	0	0	0	0	0	0	0	1	9172	1074	38	1		1	MAGEB1	23	30269612	Silent	SNP	G	TCGA-HU-8610-01A-22D-2394-08		30269612	125000948	71	129245											
PCDH11X	27328	broad.mit.edu	37	chrX	91132884	91132884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagataacggggtaccaCccttaaccagcaatgtcaca	7	12	1	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chrX:91132884C>T	uc004efk.1	+	2	2490	c.1645C>T	c.(1645-1647)CCC>TCC	p.P549S	PCDH11X_uc004efl.1_Missense_Mutation_p.P549S|PCDH11X_uc004efo.1_Missense_Mutation_p.P549S|PCDH11X_uc010nmv.1_Missense_Mutation_p.P549S|PCDH11X_uc004efm.1_Missense_Mutation_p.P549S|PCDH11X_uc004efn.1_Missense_Mutation_p.P549S|PCDH11X_uc004efh.1_Missense_Mutation_p.P549S|PCDH11X_uc004efj.1_Missense_Mutation_p.P549S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	549	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CGGGGTACCACCCTTAACCAG	0.378													T	91132884	C	T	91132884	3	4	260	1	0	0	0	0	1	0	0	0	11508	507	18	4	1651	4	PCDH11X	23	91132884	Missense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	60863272	91132884	64137676	72	129246											
ATG4A	115201	broad.mit.edu	37	chrX	107381208	107381208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcaatcctgtctatgTtgatgcattcaaagtaagtc	6	9	3	1			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chrX:107381208T>C	uc004enr.2	+	8	845	c.722T>C	c.(721-723)GTT>GCT	p.V241A	ATG4A_uc004ent.2_Intron|ATG4A_uc004ens.2_Missense_Mutation_p.V157A|ATG4A_uc011msl.1_Intron|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.V157A	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	241					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1						CCTGTCTATGTTGATGCATTC	0.532													C	107381208	T	C	107381208	3	2	260	1	0	0	0	0	1	0	0	0	1096	1725	60	3	752	3	ATG4A	23	107381208	Missense_Mutation	SNP	T	TCGA-HU-8610-01A-22D-2394-08	16248324	107381208	47889352	73	129247											
SLITRK2	84631	broad.mit.edu	37	chrX	144904988	144904988	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagctgtgtctgcacctctCagagctcagacaatggtctg	11	12	4	2			TCGA-HU-8610-01A-22D-2394-08	TCGA-HU-8610-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1469c2ef-0b9a-4029-baae-b234b857894b	001cfcd7-98cd-427a-9fed-2c6ed7999033	g.chrX:144904988C>T	uc004fcd.2	+	5	2035	c.1045C>T	c.(1045-1047)CAG>TAG	p.Q349*	SLITRK2_uc010nsp.2_Nonsense_Mutation_p.Q349*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.Q349*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.Q349*	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	349	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCACCTCTCAGAGCTCAGA	0.498													T	144904988	C	T	144904988	4	4	260	1	0	0	0	0	0	1	0	0	14743	827	29	4	1047	4	SLITRK2	23	144904988	Nonsense_Mutation	SNP	C	TCGA-HU-8610-01A-22D-2394-08	37523780	144904988	10365572	74	129248											
ZNF642	339559	broad.mit.edu	37	chr1	40947451	40947451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctgctgtctcaggaTgctgaggacgtaaagaccca	11	12	2	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:40947451T>C	uc001cfo.2	+	3	438	c.144T>C	c.(142-144)GAT>GAC	p.D48D	ZNF642_uc009vwb.2_Silent_p.D48D|ZNF642_uc010ojk.1_Silent_p.D48D	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;8.81e-19)			TGTCTCAGGATGCTGAGGACG	0.498													C	40947451	T	C	40947451	2	2	261	1	0	0	0	0	0	0	0	1	18055	1461	51	3		3	ZNF642	1	40947451	Silent	SNP	T	TCGA-HU-A4G2-01A-11D-A25D-08		40947451	208303170	1	129249											
CPT2	1376	broad.mit.edu	37	chr1	53676469	53676469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactttgagcactcttggGgtgatggtgtggcagtgctc	14	9	1	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:53676469G>A	uc001cvb.3	+	4	1638	c.1123G>A	c.(1123-1125)GGT>AGT	p.G375S		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	375	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)	GCACTCTTGGGGTGATGGTGT	0.498													A	53676469	G	A	53676469	3	1	261	1	0	0	0	0	1	0	0	0	3834	1232	43	4	1137	4	CPT2	1	53676469	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	12729018	53676469	195574152	2	129250											
DPYD	1806	broad.mit.edu	37	chr1	97981294	97981294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcttaccttatcaagagaGaaagttttggtgagggcaaa	10	5	2	3			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:97981294G>T	uc001drv.2	-	13	1865	c.1728C>A	c.(1726-1728)TTC>TTA	p.F576L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	576					'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			ovary(3)|skin(3)|breast(2)	8		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)	TATCAAGAGAGAAAGTTTTGG	0.333													T	97981294	G	T	97981294	3	4	261	1	0	0	0	0	1	0	0	0	4745	933	33	5	1393	5	DPYD	1	97981294	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	44304825	97981294	151269327	3	129251											
NFASC	23114	broad.mit.edu	37	chr1	204951139	204951139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccgtcatcggttactccGgagaagattgtgagtagtct	12	8	2	3			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:204951139G>A	uc001hbj.2	+	21	2789	c.2461G>A	c.(2461-2463)GGA>AGA	p.G821R	NFASC_uc010pra.1_Missense_Mutation_p.G817R|NFASC_uc001hbi.2_Missense_Mutation_p.G817R|NFASC_uc010prb.1_Missense_Mutation_p.G832R|NFASC_uc010prc.1_Missense_Mutation_p.G388R|NFASC_uc001hbk.1_Missense_Mutation_p.G627R|NFASC_uc001hbl.1_Missense_Mutation_p.G71R	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	821	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			CGGTTACTCCGGAGAAGATTG	0.612													A	204951139	G	A	204951139	3	1	261	1	0	0	0	0	1	0	0	0	10359	1117	39	1	2619	1	NFASC	1	204951139	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	106969845	204951139	44299482	4	129252											
OBSCN	84033	broad.mit.edu	37	chr1	228474547	228474547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacttgaccctggtgtgCgagaccagcacctgcgacat	13	12	0	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr1:228474547C>T	uc009xez.1	+	35	9395	c.9351C>T	c.(9349-9351)TGC>TGT	p.C3117C	OBSCN_uc001hsn.2_Silent_p.C3117C|OBSCN_uc001hsq.1_Silent_p.C373C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3117	Ig-like 31.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCCTGGTGTGCGAGACCAGCA	0.642													T	228474547	C	T	228474547	2	4	261	1	0	0	0	0	0	0	0	1	10812	776	27	1		1	OBSCN	1	228474547	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	23523408	228474547	20776074	5	129253											
PNPT1	87178	broad.mit.edu	37	chr2	55907854	55907854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcctaacttaccaacaggTccattccaaggaatatctga	5	11	1	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:55907854T>C	uc002rzf.2	-	7	611	c.558A>G	c.(556-558)GGA>GGG	p.G186G	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	186					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACCAACAGGTCCATTCCAAG	0.323													C	55907854	T	C	55907854	2	2	261	1	0	0	0	0	0	0	0	1	12173	1654	58	3		3	PNPT1	2	55907854	Silent	SNP	T	TCGA-HU-A4G2-01A-11D-A25D-08		55907854	187291519	6	129254											
GPR45	11250	broad.mit.edu	37	chr2	105858363	105858363	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttacacatacctgctgctGaacaccagcaacgcctcaga	7	15	1	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:105858363G>A	uc002tco.1	+	1	164	c.48G>A	c.(46-48)CTG>CTA	p.L16L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	16	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						ACCTGCTGCTGAACACCAGCA	0.617													A	105858363	G	A	105858363	2	1	261	1	0	0	0	0	0	0	0	1	6696	1277	45	4		4	GPR45	2	105858363	Silent	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	49950509	105858363	137341010	7	129255											
ACVR1	90	broad.mit.edu	37	chr2	158594066	158594066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagtcagttttcaatttgtCgagggaattatcaattttgg	9	5	3	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:158594066C>T	uc002tzm.3	-	12	1846	c.1507G>A	c.(1507-1509)GAC>AAC	p.D503N	ACVR1_uc002tzn.3_Missense_Mutation_p.D503N|ACVR1_uc010fog.2_Missense_Mutation_p.D503N	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	503	Cytoplasmic (Potential).				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TTCAATTTGTCGAGGGAATTA	0.418													T	158594066	C	T	158594066	3	4	261	1	0	0	0	0	1	0	0	0	220	884	31	1	26	1	ACVR1	2	158594066	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	52735703	158594066	84605307	8	129256											
COL3A1	1281	broad.mit.edu	37	chr2	189856394	189856394	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttcaattttactctgtaGggtccaagaggggctcctgg	11	8	2	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:189856394G>T	uc002uqj.1	+	13	1015	c.898_splice	c.e13-1	p.G300_splice	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein						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			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTACTCTGTAGGGTCCAAGAG	0.458													T	189856394	G	T	189856394	5	4	261	1	0	0	0	0	0	0	1	0	3688	1014	35	5	947	5	COL3A1	2	189856394	Splice_Site	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	31262328	189856394	53342979	9	129257											
UGT1A1	54658	broad.mit.edu	37	chr2	234669132	234669132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcacctgacgcctcgttgTacatcagagacggagcattt	10	11	1	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr2:234669132T>C	uc002vvb.2	+	1	214	c.199T>C	c.(199-201)TAC>CAC	p.Y67H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.Y67H	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	67					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			central_nervous_system(1)|skin(1)	2		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)	CGCCTCGTTGTACATCAGAGA	0.517													C	234669132	T	C	234669132	3	2	261	1	0	0	0	0	1	0	0	0	16941	1638	57	3	201	3	UGT1A1	2	234669132	Missense_Mutation	SNP	T	TCGA-HU-A4G2-01A-11D-A25D-08	44812738	234669132	8530241	10	129258											
SCN5A	6331	broad.mit.edu	37	chr3	38592950	38592950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcggatccccttggcccctCggatcagtctgaggatgcgg	14	13	2	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:38592950C>T	uc003cio.2	-	28	5107	c.4913G>A	c.(4912-4914)CGA>CAA	p.R1638Q	SCN5A_uc003cin.2_Missense_Mutation_p.R1637Q|SCN5A_uc003cil.3_Missense_Mutation_p.R1638Q|SCN5A_uc010hhi.2_Missense_Mutation_p.R1620Q|SCN5A_uc010hhk.2_Missense_Mutation_p.R1605Q|SCN5A_uc011ayr.1_Missense_Mutation_p.R1584Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1638	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CTTGGCCCCTCGGATCAGTCT	0.592													T	38592950	C	T	38592950	3	4	261	1	0	0	0	0	1	0	0	0	13922	884	31	1	1141	1	SCN5A	3	38592950	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08		38592950	159429480	11	129259											
KLHL18	23276	broad.mit.edu	37	chr3	47378131	47378131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggcgtggctgtggtgaaCgggcttctctatgccatcgg	16	9	1	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:47378131C>T	uc003crd.2	+	7	1131	c.1005C>T	c.(1003-1005)AAC>AAT	p.N335N	KLHL18_uc003crc.2_Silent_p.N335N|KLHL18_uc011bav.1_Silent_p.N223N|KLHL18_uc010hjq.1_Silent_p.N191N	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	335	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTGTGGTGAACGGGCTTCTCT	0.602													T	47378131	C	T	47378131	2	4	261	1	0	0	0	0	0	0	0	1	8373	535	19	1		1	KLHL18	3	47378131	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	8785181	47378131	150644299	12	129260											
DALRD3	55152	broad.mit.edu	37	chr3	49053945	49053945	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatctctgtccaggctgggtCtgagggagtatagggttggt	17	6	2	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:49053945C>T	uc003cvk.1	-	8	1084	c.1064_splice	c.e8-1	p.D355_splice	DALRD3_uc003cvl.1_Splice_Site_p.D355_splice|DALRD3_uc003cvm.1_Splice_Site_p.D188_splice|DALRD3_uc010hko.1_Splice_Site_p.D188_splice|DALRD3_uc011bca.1_Splice_Site_p.D355_splice	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3						arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGCTGGGTCTGAGGGAGTA	0.567													T	49053945	C	T	49053945	5	4	261	1	0	0	0	0	0	0	1	0	4229	927	32	4	588	4	DALRD3	3	49053945	Splice_Site	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	1675814	49053945	148968485	13	129261											
RHO	6010	broad.mit.edu	37	chr3	129251585	129251585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagcgccgccatctacaaCcctgtcatctatatcatgat	6	13	4	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:129251585C>A	uc003emt.2	+	4	1001	c.906C>A	c.(904-906)AAC>AAA	p.N302K		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	302	Helical; Name=7; (Potential).				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				0		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)	CCATCTACAACCCTGTCATCT	0.582													A	129251585	C	A	129251585	3	1	261	1	0	0	0	0	1	0	0	0	13330	506	18	5	920	5	RHO	3	129251585	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	80197640	129251585	68770845	14	129262											
PIK3CA	5290	broad.mit.edu	37	chr3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgactttagaatgcctccGtgaggctacattaataacca	8	9	0	3			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr3:178916726G>A	uc003fjk.2	+	2	270	c.113G>A	c.(112-114)CGT>CAT	p.R38H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	38	PI3K-ABD.		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		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.R38H(4)|p.R38S(1)|p.R38G(1)|p.R38C(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916726	G	A	178916726	3	1	261	1	0	0	0	0	1	0	0	0	11913	1145	40	1	115	1	PIK3CA	3	178916726	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	49665141	178916726	19105704	15	129263											
RNF175	285533	broad.mit.edu	37	chr4	154633709	154633709	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaacgatacaccaacctcGgatgcagaattcatgaaagc	7	13	1	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr4:154633709G>A	uc003int.2	-	8	1157	c.784C>T	c.(784-786)CGA>TGA	p.R262*		NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	262	RING-type; atypical.					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CACCAACCTCGGATGCAGAAT	0.408													A	154633709	G	A	154633709	4	1	261	1	0	0	0	0	0	1	0	0	13463	1124	39	1	210	1	RNF175	4	154633709	Nonsense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		154633709	36520567	16	129264											
GALNTL6	442117	broad.mit.edu	37	chr4	173269789	173269789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtataattaaccgaaccCcagggagtctgatagcagaa	9	9	1	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr4:173269789C>T	uc003isv.2	+	5	1238	c.502C>T	c.(502-504)CCA>TCA	p.P168S		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	168	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TAACCGAACCCCAGGGAGTCT	0.408													T	173269789	C	T	173269789	3	4	261	1	0	0	0	0	1	0	0	0	6225	623	22	4	516	4	GALNTL6	4	173269789	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	18636080	173269789	17884487	17	129265											
WWC2	80014	broad.mit.edu	37	chr4	184182161	184182161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcagagggtcactcaActccctcagttccaccgaac	7	17	3	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr4:184182161A>G	uc010irx.2	+	11	1567	c.1385A>G	c.(1384-1386)AAC>AGC	p.N462S	WWC2_uc003ivk.3_Missense_Mutation_p.N257S|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.N144S|WWC2_uc003ivn.3_Missense_Mutation_p.N26S	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	462	Ser-rich.									ovary(2)|lung(1)	3		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)		GGGTCACTCAACTCCCTCAGT	0.522													G	184182161	A	G	184182161	3	3	261	1	0	0	0	0	1	0	0	0	17409	43	2	3	1427	3	WWC2	4	184182161	Missense_Mutation	SNP	A	TCGA-HU-A4G2-01A-11D-A25D-08	10912372	184182161	6972115	18	129266											
FBXL7	23194	broad.mit.edu	37	chr5	15936847	15936847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcagcgacttcggcctgcGggagatcgccaagctggagt	15	12	1	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr5:15936847G>A	uc003jfn.1	+	4	1509	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	343	LRR 7.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TTCGGCCTGCGGGAGATCGCC	0.667													A	15936847	G	A	15936847	3	1	261	1	0	0	0	0	1	0	0	0	5724	1116	39	1	1042	1	FBXL7	5	15936847	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		15936847	164978413	19	129267											
FBN2	2201	broad.mit.edu	37	chr5	127693009	127693009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgagtttgctgccgggcGaacattcacaattgaaagat	11	8	1	3			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr5:127693009G>A	uc003kuu.2	-	20	3072	c.2633C>T	c.(2632-2634)TCG>TTG	p.S878L	FBN2_uc003kuv.2_Missense_Mutation_p.S845L	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	878	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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GCTGCCGGGCGAACATTCACA	0.413													A	127693009	G	A	127693009	3	1	261	1	0	0	0	0	1	0	0	0	5703	1059	37	1	6289	1	FBN2	5	127693009	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	111756162	127693009	53222251	20	129268											
ELOVL2	54898	broad.mit.edu	37	chr6	10990028	10990028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaagccacacggtttcaCgacggcgctcatggtgtgcg	16	11	2	0	rs6919726	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr6:10990028C>T	uc003mzp.3	-	7	834	c.673G>A	c.(673-675)GTG>ATG	p.V225M		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	225	Helical; (Potential).				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				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CACGGTTTCACGACGGCGCTC	0.532													T	10990028	C	T	10990028	3	4	261	1	0	0	0	0	1	0	0	0	5074	536	19	1	225	1	ELOVL2	6	10990028	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08		10990028	160125039	21	129269											
RTN4IP1	84816	broad.mit.edu	37	chr6	107070695	107070695	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcattccctaactcacctCatctccaggcttgaagtatt	6	13	3	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr6:107070695C>A	uc003prj.2	-	2	901	c.424G>T	c.(424-426)GAG>TAG	p.E142*	RTN4IP1_uc010kdd.2_Nonsense_Mutation_p.E142*|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.E42*	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	142						mitochondrion	oxidoreductase activity|zinc ion binding				0	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)		TAACTCACCTCATCTCCAGGC	0.323													A	107070695	C	A	107070695	4	1	261	1	0	0	0	0	0	1	0	0	13729	835	29	5	798	5	RTN4IP1	6	107070695	Nonsense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	96080667	107070695	64044372	22	129270											
STK31	56164	broad.mit.edu	37	chr7	23749944	23749944	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttctagagcttccgcaacgGaaagtgtgaggtcagtagta	12	8	2	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr7:23749944G>T	uc003sws.3	+	1	107	c.40G>T	c.(40-42)GAA>TAA	p.E14*	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Nonsense_Mutation_p.E14*|STK31_uc010kuq.2_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	14							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TTCCGCAACGGAAAGTGTGAG	0.557													T	23749944	G	T	23749944	4	4	261	1	0	0	0	0	0	1	0	0	15295	1175	41	5	42	5	STK31	7	23749944	Nonsense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		23749944	135388719	23	129271											
VWC2	375567	broad.mit.edu	37	chr7	49815107	49815107	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgctgcctgatggtggctCtgtgcagtccgagcatcccg	13	14	1	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr7:49815107C>A	uc003tot.1	+	2	632	c.76C>A	c.(76-78)CTG>ATG	p.L26M		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	26					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						GATGGTGGCTCTGTGCAGTCC	0.642													A	49815107	C	A	49815107	3	1	261	1	0	0	0	0	1	0	0	0	17240	912	32	5	78	5	VWC2	7	49815107	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	26065163	49815107	109323556	24	129272											
ZNF425	155054	broad.mit.edu	37	chr7	148800964	148800964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcacactccggacactGgaagggcttctccccgctgt	10	15	2	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr7:148800964G>T	uc003wfj.2	-	4	2072	c.1999C>A	c.(1999-2001)CAG>AAG	p.Q667K		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	667	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCCGGACACTGGAAGGGCTTC	0.542													T	148800964	G	T	148800964	3	4	261	1	0	0	0	0	1	0	0	0	17896	1357	47	5	263	5	ZNF425	7	148800964	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	98985857	148800964	10337699	25	129273											
PFKP	5214	broad.mit.edu	37	chr10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-													tgtggctacctggccaacatGggggggctcgcggccggagc							TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637													-	3172106	G	-	3172106	7	5	261	1	0	1	0	1	0	0	0	0	11766	1348	47	0	1845	0	PFKP	10	3172106	Frame_Shift_Del	DEL	G	TCGA-HU-A4G2-01A-11D-A25D-08		3172106	132362641	26	129274											
VENTX	27287	broad.mit.edu	37	chr10	135053262	135053262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtccgcaccttggagggCgtcttccagcaccaccagta	11	15	1	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr10:135053262C>T	uc010quy.1	+	2	335	c.324C>T	c.(322-324)GGC>GGT	p.G108G		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	108	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCTTGGAGGGCGTCTTCCAGC	0.557													T	135053262	C	T	135053262	2	4	261	1	0	0	0	0	0	0	0	1	17150	755	27	1		1	VENTX	10	135053262	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	131881156	135053262	481485	27	129275											
MUC6	4588	broad.mit.edu	37	chr11	1019329	1019329	+	Frame_Shift_Del	DEL	G	G	-													tggtagtgtcattgtggtccGtgttgtggactgagctgtgg							TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr11:1019329delG	uc001lsw.2	-	30	4027	c.3976delC	c.(3976-3978)CGGfs	p.R1326fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1326	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		ATTGTGGTCCGTGTTGTGGAC	0.637													-	1019329	G	-	1019329	7	5	261	1	0	1	0	1	0	0	0	0	9980	1144	40	0	3359	0	MUC6	11	1019329	Frame_Shift_Del	DEL	G	TCGA-HU-A4G2-01A-11D-A25D-08		1019329	133987187	28	129276											
IGF2	3481	broad.mit.edu	37	chr11	2154854	2154854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaaacagcactcctcaaCgatgccacggctgcgacggc	12	15	1	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr11:2154854C>T	uc009yde.2	-	3	302	c.199G>A	c.(199-201)GTT>ATT	p.V67I	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.V67I|IGF2_uc009ydf.2_Missense_Mutation_p.V123I|IGF2_uc001lvh.2_Missense_Mutation_p.V67I|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	67	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)	1		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)		CACTCCTCAACGATGCCACGG	0.667													T	2154854	C	T	2154854	3	4	261	1	0	0	0	0	1	0	0	0	7572	536	19	1	351	1	IGF2	11	2154854	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	1135525	2154854	132851662	29	129277											
B3GAT3	26229	broad.mit.edu	37	chr11	62384806	62384806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagtcgtaccagctctgCcttctgtaccagcctgcagg	11	14	2	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr11:62384806C>T	uc001ntw.2	-	3	300	c.271G>A	c.(271-273)GCA>ACA	p.A91T	B3GAT3_uc009ynz.2_Missense_Mutation_p.A84T|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.A91T	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	91	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						ACCAGCTCTGCCTTCTGTACC	0.637													T	62384806	C	T	62384806	3	4	261	1	0	0	0	0	1	0	0	0	1255	739	26	2	748	2	B3GAT3	11	62384806	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	60229952	62384806	72621710	30	129278											
C12orf63	374467	broad.mit.edu	37	chr12	97082748	97082748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgttgcattttgtctgcGttactctttcaggtaacact	8	9	3	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr12:97082748G>A	uc001tet.1	+	10	1422	c.1344G>A	c.(1342-1344)GCG>GCA	p.A448A		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	448										skin(6)|ovary(1)	7						TTTTGTCTGCGTTACTCTTTC	0.279													A	97082748	G	A	97082748	2	1	261	1	0	0	0	0	0	0	0	1	1706	1132	40	1		1	C12orf63	12	97082748	Silent	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		97082748	36769147	31	129279											
SPG20	23111	broad.mit.edu	37	chr13	36909408	36909408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccccagaatctgttccaTaggatacagtgtagtgacct	8	11	1	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr13:36909408T>C	uc001uvn.2	-	3	830	c.560A>G	c.(559-561)TAT>TGT	p.Y187C	SPG20_uc010ten.1_Missense_Mutation_p.Y187C|SPG20_uc001uvm.2_Missense_Mutation_p.Y187C|SPG20_uc001uvo.2_Missense_Mutation_p.Y187C|SPG20_uc001uvq.2_Missense_Mutation_p.Y187C|SPG20_uc001uvp.2_Missense_Mutation_p.Y187C	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	187					cell death	cytoplasm	ubiquitin protein ligase binding				0		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)		ATCTGTTCCATAGGATACAGT	0.478													C	36909408	T	C	36909408	3	2	261	1	0	0	0	0	1	0	0	0	15041	1406	49	3	1472	3	SPG20	13	36909408	Missense_Mutation	SNP	T	TCGA-HU-A4G2-01A-11D-A25D-08		36909408	78260470	32	129280											
MDGA2	161357	broad.mit.edu	37	chr14	47389321	47389321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgttctgccatactGgattgtaggtatcataatag	11	6	3	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:47389321G>T	uc001wwj.3	-	10	2121	c.1925C>A	c.(1924-1926)CCA>CAA	p.P642Q	MDGA2_uc001wwi.3_Missense_Mutation_p.P413Q|MDGA2_uc010ani.2_Missense_Mutation_p.P202Q	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	642					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CTGCCATACTGGATTGTAGGT	0.408													T	47389321	G	T	47389321	3	4	261	1	0	0	0	0	1	0	0	0	9407	1348	47	5	977	5	MDGA2	14	47389321	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		47389321	59960219	33	129281											
SERPINA9	327657	broad.mit.edu	37	chr14	94936109	94936109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgcactgggggcattggcCggggacacacagtagattgg	16	8	0	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:94936109C>T	uc001ydf.2	-	2	284	c.123G>A	c.(121-123)CCG>CCA	p.P41P	SERPINA9_uc001yde.2_Silent_p.P41P|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Silent_p.P41P|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	23				P -> L (in Ref. 1; AAO65242/AAO65243 and 3; AAQ89063).	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		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)		GGGCATTGGCCGGGGACACAC	0.517													T	94936109	C	T	94936109	2	4	261	1	0	0	0	0	0	0	0	1	14095	639	23	1		1	SERPINA9	14	94936109	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	47546788	94936109	12413431	34	129282											
KLC1	3831	broad.mit.edu	37	chr14	104142035	104142035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttataatttagggaaagcaaAaggatgggacatcttttgga	11	3	1	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:104142035A>G	uc001yno.2	+	11	1629	c.1321A>G	c.(1321-1323)AAG>GAG	p.K441E	KLC1_uc010tyd.1_Missense_Mutation_p.K600E|KLC1_uc010tye.1_Missense_Mutation_p.K437E|KLC1_uc001ynm.1_Missense_Mutation_p.K441E|KLC1_uc001ynn.1_Missense_Mutation_p.K435E|KLC1_uc010tyf.1_Missense_Mutation_p.K441E|KLC1_uc001ynp.1_RNA|KLC1_uc001ynr.1_5'UTR|KLC1_uc010awu.1_RNA|KLC1_uc001ynq.1_5'UTR|KLC1_uc001yns.2_RNA	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	441					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				GGGAAAGCAAAAGGATGGGAC	0.328													G	104142035	A	G	104142035	3	3	261	1	0	0	0	0	1	0	0	0	8333	15	1	3	1359	3	KLC1	14	104142035	Missense_Mutation	SNP	A	TCGA-HU-A4G2-01A-11D-A25D-08	9205926	104142035	3207505	35	129283											
JAG2	3714	broad.mit.edu	37	chr14	105615648	105615648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcttggctcacaaaggtCgacatccacctgcagggtgg	15	11	1	0	rs9972231	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr14:105615648C>T	uc001yqg.2	-	13	2016	c.1612G>A	c.(1612-1614)GAC>AAC	p.D538N	JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Missense_Mutation_p.D500N	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	538	EGF-like 9.|Extracellular (Potential).				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	p.D538N(1)		lung(3)|breast(2)	5		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)		TCACAAAGGTCGACATCCACC	0.622													T	105615648	C	T	105615648	3	4	261	1	0	0	0	0	1	0	0	0	7935	884	31	1	2160	1	JAG2	14	105615648	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	1473613	105615648	1733892	36	129284											
TCF12	6938	broad.mit.edu	37	chr15	57545542	57545543	+	Frame_Shift_Ins	INS	-	-	T													gctgtgggaccttccaccagINStttgcctgctggtcacagtg							TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr15:57545542_57545543insT	uc002aec.2	+	15	1555_1556	c.1271_1272insT	c.(1270-1272)AGTfs	p.S424fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.S476fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.S444fs|TCF12_uc002aea.2_Frame_Shift_Ins_p.S448fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Ins_p.S448fs|TCF12_uc002aed.2_Frame_Shift_Ins_p.S424fs|TCF12_uc002aee.2_Frame_Shift_Ins_p.S254fs|TCF12_uc010bft.2_Frame_Shift_Ins_p.S278fs|TCF12_uc010ugo.1_Frame_Shift_Ins_p.S188fs|TCF12_uc010ugp.1_Frame_Shift_Ins_p.S82fs|TCF12_uc010ugq.1_Frame_Shift_Ins_p.S58fs|TCF12_uc010ugr.1_Frame_Shift_Ins_p.S37fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	424					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			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCTTCCACCAGTTTGCCTGCTG	0.45			T	TEC	extraskeletal myxoid chondrosarcoma								T	57545543	-	T	57545542	7	5	261	1	0	1	1	0	0	0	0	0	15684	1029	36	0	1474	0	TCF12	15	57545542	Frame_Shift_Ins	INS	-	TCGA-HU-A4G2-01A-11D-A25D-08		57545542	44985850	37	129285	664	2									
TCF12	6938	broad.mit.edu	37	chr15	57545543	57545544	+	Frame_Shift_Ins	INS	-	-	T													ctgtgggaccttccaccagtINSttgcctgctggtcacagtga							TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr15:57545542_57545543G>GT	uc002aec.3	+	14	1555_1556	c.1271_1272G>GT	c.(1270-1272)agtfs	p.S424fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.S476fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.S444fs|TCF12_uc002aea.3_Frame_Shift_Ins_p.S448fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Ins_p.S448fs|TCF12_uc002aed.3_Frame_Shift_Ins_p.S424fs|TCF12_uc010ugo.2_Frame_Shift_Ins_p.S188fs|TCF12_uc002aee.3_Frame_Shift_Ins_p.S254fs|TCF12_uc010bft.3_Frame_Shift_Ins_p.S278fs|TCF12_uc010ugp.2_Frame_Shift_Ins_p.S82fs|TCF12_uc010ugq.2_Frame_Shift_Ins_p.S58fs|TCF12_uc010ugr.1_Frame_Shift_Ins_p.S37fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	424					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)		CCTTCCACCAGTTTGCCTGCTG	0.45			T	TEC	extraskeletal myxoid chondrosarcoma								T	57545544	-	T	57545543	7	5	261	1	0	1	1	0	0	0	0	0	15684	1722	60	0	1475	0	TCF12	15	57545543	Frame_Shift_Ins	INS	-	TCGA-HU-A4G2-01A-11D-A25D-08	1	57545543	44985849	38	129286	664	2									
VPS13C	54832	broad.mit.edu	37	chr15	62204164	62204164	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtcagggtaactattcGtgaaaggttgaaactgctca	13	6	2	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr15:62204164G>A	uc002agz.2	-	63	8664	c.8590C>T	c.(8590-8592)CGA>TGA	p.R2864*	VPS13C_uc002aha.2_Nonsense_Mutation_p.R2821*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.R2864*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.R2821*|VPS13C_uc002ahd.1_Nonsense_Mutation_p.R241*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2864					protein localization					ovary(2)	2						GTAACTATTCGTGAAAGGTTG	0.363													A	62204164	G	A	62204164	4	1	261	1	0	0	0	0	0	1	0	0	17188	1153	40	1	2791	1	VPS13C	15	62204164	Nonsense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	4658621	62204164	40327228	39	129287											
IRF8	3394	broad.mit.edu	37	chr16	85948095	85948095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcgtgccgctggtgacGgggtacaccacctacgacgc	15	14	0	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr16:85948095G>A	uc002fjh.2	+	6	627	c.570G>A	c.(568-570)ACG>ACA	p.T190T	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	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)|ovary(1)	3		Prostate(104;0.0771)				CGCTGGTGACGGGGTACACCA	0.587													A	85948095	G	A	85948095	2	1	261	1	0	0	0	0	0	0	0	1	7836	1103	39	1		1	IRF8	16	85948095	Silent	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		85948095	4406658	40	129288											
SMYD4	114826	broad.mit.edu	37	chr17	1690239	1690239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcttctgctgcctttcGgcaacccccatccggctctt	7	18	3	0	rs140685899		TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr17:1690239G>A	uc002ftm.3	-	7	1917	c.1749C>T	c.(1747-1749)GCC>GCT	p.A583A	SMYD4_uc002ftn.1_Silent_p.A438A	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	583							zinc ion binding			skin(3)|kidney(2)	5						GCTGCCTTTCGGCAACCCCCA	0.537													A	1690239	G	A	1690239	2	1	261	1	0	0	0	0	0	0	0	1	14824	1103	39	1		1	SMYD4	17	1690239	Silent	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		1690239	79504971	41	129289											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	261	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-HU-A4G2-01A-11D-A25D-08	54696145	56386384	24808826	42	129290											
TANC2	26115	broad.mit.edu	37	chr17	61417589	61417589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgggagcagcttcttcGggaacctcacctgcagagca	11	13	2	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr17:61417589G>A	uc002jal.3	+	10	1504	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	TANC2_uc010wpe.1_Missense_Mutation_p.R404Q	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	494							binding			ovary(2)	2						CAGCTTCTTCGGGAACCTCAC	0.547													A	61417589	G	A	61417589	3	1	261	1	0	0	0	0	1	0	0	0	15542	1116	39	1	1519	1	TANC2	17	61417589	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	5031205	61417589	19777621	43	129291											
SMAD4	4089	broad.mit.edu	37	chr18	48593397	48593397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcctaaggttgcacaTaggcaaaggtgtgcagttgg	12	7	1	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr18:48593397T>G	uc010xdp.1	+	10	1686	c.1148T>G	c.(1147-1149)ATA>AGA	p.I383R	SMAD4_uc002lfb.3_Missense_Mutation_p.I228R	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	383	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?(35)|p.?(2)|p.I383K(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		AGGTTGCACATAGGCAAAGGT	0.343									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				G	48593397	T	G	48593397	3	3	261	1	0	0	0	0	1	0	0	0	14760	1406	49	5	1182	5	SMAD4	18	48593397	Missense_Mutation	SNP	T	TCGA-HU-A4G2-01A-11D-A25D-08		48593397	29483851	44	129292											
CDH7	1005	broad.mit.edu	37	chr18	63477134	63477134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacaaacccgtggagccCgagtcggagtttgtcatcaa	10	12	2	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr18:63477134C>T	uc002ljz.2	+	3	730	c.405C>T	c.(403-405)CCC>CCT	p.P135P	CDH7_uc002lka.2_Silent_p.P135P|CDH7_uc002lkb.2_Silent_p.P135P	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	135	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CCGTGGAGCCCGAGTCGGAGT	0.527													T	63477134	C	T	63477134	2	4	261	1	0	0	0	0	0	0	0	1	3115	639	23	1		1	CDH7	18	63477134	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	14883737	63477134	14600114	45	129293											
CDH19	28513	broad.mit.edu	37	chr18	64172357	64172357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagcgcttgtggttttccGagtcttgcgttcccgcatta	10	12	2	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr18:64172357G>A	uc002lkc.1	-	12	2149	c.2011C>T	c.(2011-2013)CGG>TGG	p.R671W	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	671	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				GTGGTTTTCCGAGTCTTGCGT	0.468													A	64172357	G	A	64172357	3	1	261	1	0	0	0	0	1	0	0	0	3104	1057	37	1	311	1	CDH19	18	64172357	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	695223	64172357	13904891	46	129294											
MUC16	94025	broad.mit.edu	37	chr19	9086045	9086045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttccaggagtggaagTcaaagtggtctctgctccag	12	10	2	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:9086045T>C	uc002mkp.2	-	1	5974	c.5770A>G	c.(5770-5772)ACT>GCT	p.T1924A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1924	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGAGTGGAAGTCAAAGTGGTC	0.478													C	9086045	T	C	9086045	3	2	261	1	0	0	0	0	1	0	0	0	9973	1667	58	3	38089	3	MUC16	19	9086045	Missense_Mutation	SNP	T	TCGA-HU-A4G2-01A-11D-A25D-08		9086045	50042938	47	129295											
COL5A3	50509	broad.mit.edu	37	chr19	10097410	10097410	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcgcctttctccccctGgaggccccggttgcctgaag	10	17	2	1			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:10097410G>A	uc002mmq.1	-	28	2256	c.2170C>T	c.(2170-2172)CAG>TAG	p.Q724*		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	724	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTCTCCCCCTGGAGGCCCCGG	0.547													A	10097410	G	A	10097410	4	1	261	1	0	0	0	0	0	1	0	0	3698	1357	47	4	3227	4	COL5A3	19	10097410	Nonsense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08	1011365	10097410	49031573	48	129296											
GCDH	2639	broad.mit.edu	37	chr19	13008171	13008171	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcagaagaagctggcAgacatgctcactgagattac	10	9	2	5	rs2229460	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:13008171A>G	uc002mvq.2	+	10	1088	c.1011A>G	c.(1009-1011)GCA>GCG	p.A337A	GCDH_uc010xms.1_Silent_p.A304A|GCDH_uc002mvp.2_Silent_p.A337A|GCDH_uc010xmt.1_Silent_p.A171A|GCDH_uc010xmu.1_Silent_p.A293A	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	337					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						AGAAGCTGGCAGACATGCTCA	0.617													G	13008171	A	G	13008171	2	3	261	1	0	0	0	0	0	0	0	1	6287	175	7	3		3	GCDH	19	13008171	Silent	SNP	A	TCGA-HU-A4G2-01A-11D-A25D-08	2910761	13008171	46120812	49	129297											
EMR3	84658	broad.mit.edu	37	chr19	14749084	14749084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaggtgcacaccctcCagcagcatccaggtgaaggc	13	12	0	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:14749084C>T	uc002mzi.3	-	11	1465	c.1317G>A	c.(1315-1317)CTG>CTA	p.L439L	EMR3_uc010dzp.2_Silent_p.L387L|EMR3_uc010xnv.1_Silent_p.L313L	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	439	Cytoplasmic (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						GCACACCCTCCAGCAGCATCC	0.557													T	14749084	C	T	14749084	2	4	261	1	0	0	0	0	0	0	0	1	5106	581	21	4		4	EMR3	19	14749084	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	1740913	14749084	44379899	50	129298											
UNC13A	23025	broad.mit.edu	37	chr19	17760371	17760371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggatgtctggcatgctgtCgatgatgatgagaccgcccc	14	11	1	3			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:17760371C>T	uc002nhd.2	-	14	1729	c.1729G>A	c.(1729-1731)GAC>AAC	p.D577N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	489					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GGCATGCTGTCGATGATGATG	0.507													T	17760371	C	T	17760371	3	4	261	1	0	0	0	0	1	0	0	0	16981	884	31	1	3766	1	UNC13A	19	17760371	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	3011287	17760371	41368612	51	129299											
DLL3	10683	broad.mit.edu	37	chr19	39998562	39998562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgctcgggaggtagcgaCgccccttttccccccgctac	10	18	0	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:39998562C>T	uc002olx.2	+	8	1824	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	589	Cytoplasmic (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			GAGGTAGCGACGCCCCTTTTC	0.557													T	39998562	C	T	39998562	3	4	261	1	0	0	0	0	1	0	0	0	4567	536	19	1	1796	1	DLL3	19	39998562	Missense_Mutation	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	22238191	39998562	19130421	52	129300											
NLRP7	199713	broad.mit.edu	37	chr19	55451629	55451629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatacactttttggccagCgtggttttccccacgcctgc	9	14	0	0			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:55451629C>T	uc002qih.3	-	4	634	c.558G>A	c.(556-558)ACG>ACA	p.T186T	NLRP7_uc002qig.3_Silent_p.T186T|NLRP7_uc002qii.3_Silent_p.T186T|NLRP7_uc010esk.2_Silent_p.T186T|NLRP7_uc010esl.2_Silent_p.T214T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	186	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TTTTGGCCAGCGTGGTTTTCC	0.577													T	55451629	C	T	55451629	2	4	261	1	0	0	0	0	0	0	0	1	10482	755	27	1		1	NLRP7	19	55451629	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	15453067	55451629	3677354	53	129301											
ZNF667	63934	broad.mit.edu	37	chr19	56953317	56953317	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctctgaagtgtgaattctCtggtgaagcatcaggggtga	13	6	3	4			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr19:56953317C>T	uc002qnd.2	-	5	1209	c.1047G>A	c.(1045-1047)CAG>CAA	p.Q349Q	ZNF667_uc010etl.2_Silent_p.Q131Q|ZNF667_uc002qne.2_Silent_p.Q349Q|ZNF667_uc010etm.2_Silent_p.Q292Q	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	349	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGTGAATTCTCTGGTGAAGCA	0.378													T	56953317	C	T	56953317	2	4	261	1	0	0	0	0	0	0	0	1	18071	912	32	4		4	ZNF667	19	56953317	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08	1501688	56953317	2175666	54	129302											
CHRNA4	1137	broad.mit.edu	37	chr20	61981063	61981063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtactggacgccctccaccGcccgggtcagggccggcgac	14	17	1	0	rs76895198		TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr20:61981063G>A	uc002yes.2	-	5	1878	c.1700C>T	c.(1699-1701)GCG>GTG	p.A567V	CHRNA4_uc002yet.1_Missense_Mutation_p.A391V|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.A496V|CHRNA4_uc002yev.1_Missense_Mutation_p.A391V|CHRNA4_uc010gkf.1_Missense_Mutation_p.A391V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	567	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCCCTCCACCGCCCGGGTCAG	0.672													A	61981063	G	A	61981063	3	1	261	1	0	0	0	0	1	0	0	0	3385	1087	38	1	191	1	CHRNA4	20	61981063	Missense_Mutation	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		61981063	1044457	55	129303											
APP	351	broad.mit.edu	37	chr21	27264121	27264121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcgctatgacaacaccGcccaccatgagtccaatgat	7	14	0	3	rs148888161	byFrequency	TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr21:27264121G>A	uc002ylz.2	-	17	2324	c.2124C>T	c.(2122-2124)GGC>GGT	p.G708G	APP_uc011acg.1_Silent_p.G216G|APP_uc010glk.2_Silent_p.G684G|APP_uc002yma.2_Silent_p.G689G|APP_uc011ach.1_Silent_p.G652G|APP_uc002ymb.2_Silent_p.G633G|APP_uc010glj.2_Silent_p.G577G|APP_uc011aci.1_Silent_p.G598G	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	708	Helical; (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGACAACACCGCCCACCATGA	0.403													A	27264121	G	A	27264121	2	1	261	1	0	0	0	0	0	0	0	1	815	1074	38	1		1	APP	21	27264121	Silent	SNP	G	TCGA-HU-A4G2-01A-11D-A25D-08		27264121	20865774	56	129304											
IL17RA	23765	broad.mit.edu	37	chr22	17589441	17589441	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcaactctaagatcatCgtcctgtgctcccgcggcac	10	14	2	2			TCGA-HU-A4G2-01A-11D-A25D-08	TCGA-HU-A4G2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081af5fd-49ba-4fe3-bebb-a190369fcf46	288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba	g.chr22:17589441C>T	uc002zly.2	+	13	1465	c.1332C>T	c.(1330-1332)ATC>ATT	p.I444I	IL17RA_uc010gqt.2_Silent_p.I392I	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	444	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTAAGATCATCGTCCTGTGCT	0.687													T	17589441	C	T	17589441	2	4	261	1	0	0	0	0	0	0	0	1	7639	874	31	1		1	IL17RA	22	17589441	Silent	SNP	C	TCGA-HU-A4G2-01A-11D-A25D-08		17589441	33715125	57	129305											
NPHP4	261734	broad.mit.edu	37	chr1	5923345	5923345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactggtagatgaccttcaCgcaaaatgcctcttcgtttt	7	11	3	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:5923345C>T	uc001alq.1	-	30	4527	c.4261G>A	c.(4261-4263)GTG>ATG	p.V1421M	NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1421					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		ATGACCTTCACGCAAAATGCC	0.582													T	5923345	C	T	5923345	3	4	262	1	0	0	0	0	1	0	0	0	10581	536	19	1	23	1	NPHP4	1	5923345	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		5923345	243327276	1	129306											
EPHA8	2046	broad.mit.edu	37	chr1	22925447	22925447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagacctggccgcccgcaaCgtcctggttgacagcaacct	11	16	0	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:22925447C>T	uc001bfx.1	+	13	2420	c.2295C>T	c.(2293-2295)AAC>AAT	p.N765N		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	765	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		CCGCCCGCAACGTCCTGGTTG	0.637													T	22925447	C	T	22925447	2	4	262	1	0	0	0	0	0	0	0	1	5173	535	19	1		1	EPHA8	1	22925447	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	17002102	22925447	226325174	2	129307											
ARID1A	8289	broad.mit.edu	37	chr1	27106861	27106861	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgcttcctcagtgacCgaaagaacccggtgtgccgg	14	12	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:27106861C>T	uc001bmv.1	+	20	6845	c.6472C>T	c.(6472-6474)CGA>TGA	p.R2158*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1941*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R1004*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R486*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.R400*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2158					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.R2158*(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CCTCAGTGACCGAAAGAACCC	0.597			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27106861	C	T	27106861	4	4	262	1	0	0	0	0	0	1	0	0	913	644	23	1	6550	1	ARID1A	1	27106861	Nonsense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	4181414	27106861	222143760	3	129308											
CSMD2	114784	broad.mit.edu	37	chr1	34312570	34312570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcttgctgctgataacGggggctgggaggctggctcc	16	10	1	1	rs150632282	byFrequency	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:34312570G>A	uc001bxn.1	-	6	857	c.828C>T	c.(826-828)CCC>CCT	p.P276P	CSMD2_uc001bxm.1_Silent_p.P316P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	276	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTGATAACGGGGGCTGGGA	0.587													A	34312570	G	A	34312570	2	1	262	1	0	0	0	0	0	0	0	1	3945	1103	39	1		1	CSMD2	1	34312570	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	7205709	34312570	214938051	4	129309											
MPL	4352	broad.mit.edu	37	chr1	43804274	43804274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactttggaacccgatacGtgtgccagtttccagaccag	9	14	0	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:43804274G>A	uc001ciw.2	+	3	319	c.274G>A	c.(274-276)GTG>ATG	p.V92M	MPL_uc001civ.2_Missense_Mutation_p.V92M|MPL_uc009vwr.2_Missense_Mutation_p.V85M	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	92	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACCCGATACGTGTGCCAGTT	0.567			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43804274	G	A	43804274	3	1	262	1	0	0	0	0	1	0	0	0	9730	1145	40	1	284	1	MPL	1	43804274	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	9491704	43804274	205446347	5	129310											
MTMR11	10903	broad.mit.edu	37	chr1	149905551	149905551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatagaagcctccacagCggagaagatcactgccccca	9	14	1	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:149905551C>A	uc001etl.3	-	9	1063	c.812G>T	c.(811-813)CGC>CTC	p.R271L	MTMR11_uc001etm.1_Missense_Mutation_p.R199L|MTMR11_uc010pbm.1_Missense_Mutation_p.R243L|MTMR11_uc010pbn.1_Missense_Mutation_p.R113L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	271	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	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)			GCCTCCACAGCGGAGAAGATC	0.547													A	149905551	C	A	149905551	3	1	262	1	0	0	0	0	1	0	0	0	9940	768	27	5	1392	5	MTMR11	1	149905551	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	106101277	149905551	99345070	6	129311											
FLG2	388698	broad.mit.edu	37	chr1	152327451	152327451	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgaacttgacccatgTtgaccatagccagatgactg	9	11	0	5			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:152327451T>G	uc001ezw.3	-	3	2884	c.2811A>C	c.(2809-2811)CAA>CAC	p.Q937H	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	937	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCCATGTTGACCATAGC	0.483													G	152327451	T	G	152327451	3	3	262	1	0	0	0	0	1	0	0	0	5923	1722	60	5	4368	5	FLG2	1	152327451	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	2421900	152327451	96923170	7	129312											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932779	155932779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagttccgggtgctgccaGggcacagggcctggcgtcgg	17	12	0	0	rs146373060		TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:155932779G>T	uc001fmt.2	-	8	1038	c.920C>A	c.(919-921)CCT>CAT	p.P307H	ARHGEF2_uc001fmr.2_Missense_Mutation_p.P279H|ARHGEF2_uc001fms.2_Missense_Mutation_p.P306H|ARHGEF2_uc001fmu.2_Missense_Mutation_p.P351H|ARHGEF2_uc010pgt.1_Missense_Mutation_p.P280H|ARHGEF2_uc010pgu.1_Missense_Mutation_p.P352H	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	307	DH.				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			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTGCTGCCAGGGCACAGGGC	0.602													T	155932779	G	T	155932779	3	4	262	1	0	0	0	0	1	0	0	0	903	1000	35	5	2100	5	ARHGEF2	1	155932779	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	3605328	155932779	93317842	8	129313											
CD1B	910	broad.mit.edu	37	chr1	158299360	158299360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccacacgggctttgggtagAatcctgagacatggcacaca	11	12	0	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:158299360A>T	uc001frx.2	-	4	794	c.686T>A	c.(685-687)TTC>TAC	p.F229Y	CD1B_uc001frw.2_Missense_Mutation_p.F122Y	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	229	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					CTTTGGGTAGAATCCTGAGAC	0.582													T	158299360	A	T	158299360	3	4	262	1	0	0	0	0	1	0	0	0	2975	246	9	5	327	5	CD1B	1	158299360	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	2366581	158299360	90951261	9	129314											
CACNA1E	777	broad.mit.edu	37	chr1	181741317	181741317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaacgaacgctgcggcaccGatctggcctacgtgtacttt	11	12	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:181741317G>T	uc001gow.2	+	37	5254	c.5089G>T	c.(5089-5091)GAT>TAT	p.D1697Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.D1585Y|CACNA1E_uc001gox.1_Missense_Mutation_p.D923Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.D923Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1697	Extracellular (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CTGCGGCACCGATCTGGCCTA	0.557													T	181741317	G	T	181741317	3	4	262	1	0	0	0	0	1	0	0	0	2542	1058	37	5	5235	5	CACNA1E	1	181741317	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	23441957	181741317	67509304	10	129315											
HMCN1	83872	broad.mit.edu	37	chr1	186084051	186084051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaatgctgctggaacagatCgcaggcgaatagatttacag	11	9	0	2	rs147547755	byFrequency	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:186084051C>T	uc001grq.1	+	74	11606	c.11377C>T	c.(11377-11379)CGC>TGC	p.R3793C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3793	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGGAACAGATCGCAGGCGAAT	0.423													T	186084051	C	T	186084051	3	4	262	1	0	0	0	0	1	0	0	0	7220	884	31	1	11671	1	HMCN1	1	186084051	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	4342734	186084051	63166570	11	129316											
OBSCN	84033	broad.mit.edu	37	chr1	228550296	228550296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaccaccctggagcgagcGgaccaggaggtcacatctgt	13	13	2	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:228550296G>A	uc009xez.1	+	80	18725	c.18681G>A	c.(18679-18681)GCG>GCA	p.A6227A	OBSCN_uc001hsr.1_Silent_p.A856A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6227					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGGAGCGAGCGGACCAGGAGG	0.682													A	228550296	G	A	228550296	2	1	262	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228550296	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	42466245	228550296	20700325	12	129317											
OR2M5	127059	broad.mit.edu	37	chr1	248308867	248308867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctcatgagacccaaaAtttgtggacttatgactgcc	7	11	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr1:248308867A>C	uc010pze.1	+	1	418	c.418A>C	c.(418-420)ATT>CTT	p.I140L		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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)			GAGACCCAAAATTTGTGGACT	0.468													C	248308867	A	C	248308867	3	2	262	1	0	0	0	0	1	0	0	0	11013	101	4	5	420	5	OR2M5	1	248308867	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	19758571	248308867	941754	13	129318											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912017	10912017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgagcaaagaggacttcGtgctggattctgaatatctc	11	7	2	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:10912017G>A	uc002ras.2	+	7	632	c.523G>A	c.(523-525)GTG>ATG	p.V175M	ATP6V1C2_uc002rat.2_Missense_Mutation_p.V175M	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	175					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGGACTTCGTGCTGGATTC	0.532													A	10912017	G	A	10912017	3	1	262	1	0	0	0	0	1	0	0	0	1181	1145	40	1	545	1	ATP6V1C2	2	10912017	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08		10912017	232287356	14	129319											
OTOF	9381	broad.mit.edu	37	chr2	26702456	26702465	+	Frame_Shift_Del	DEL	CCGGCTCCTT	CCGGCTCCTT	-													gtctacttcttcctcatcccCcggctccttccggggccgag					rs145589784	by1000genomes	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:26702455_26702464CCCGGCTCCTT>C	uc002rhk.3	-	16	2097_2106	c.1970_1979AAGGAGCCGGG>G	c.(1969-1980)aaggagccggggfs	p.K657fs	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	657					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	p.E658Q(2)		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)					TTCCTCATCCCCCGGCTCCTTCCGGGGCCG	0.633													-	26702465	CCGGCTCCTT	-	26702456	7	5	262	1	0	1	0	1	0	0	0	0	11303	623	22	0	4464	0	OTOF	2	26702456	Frame_Shift_Del	DEL	CCGGCTCCTT	TCGA-HU-A4G3-01A-11D-A24D-08	15790439	26702456	216496917	15	129320											
EIF2B4	8890	broad.mit.edu	37	chr2	27587757	27587757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgagctcccaatagcacCttggaaacctgtttcacagg	9	12	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:27587757C>T	uc002rkb.2	-	12	1343	c.1200G>A	c.(1198-1200)AAG>AAA	p.K400K	EIF2B4_uc002rjz.2_Silent_p.K420K|EIF2B4_uc002rka.2_Silent_p.K385K|EIF2B4_uc002rkc.2_Silent_p.K399K|EIF2B4_uc002rkd.2_Silent_p.K194K|EIF2B4_uc002rke.2_Silent_p.K369K	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	400					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATAGCACCTTGGAAACCT	0.473													T	27587757	C	T	27587757	2	4	262	1	0	0	0	0	0	0	0	1	5003	680	24	4		4	EIF2B4	2	27587757	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	885301	27587757	215611616	16	129321											
DPP10	57628	broad.mit.edu	37	chr2	116101485	116101485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagaggctcggtggatcAatggtaagtgtatacctttt	11	7	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:116101485A>G	uc002tla.1	+	3	725	c.268A>G	c.(268-270)AAT>GAT	p.N90D	DPP10_uc002tlb.1_Missense_Mutation_p.N40D|DPP10_uc002tlc.1_Missense_Mutation_p.N86D|DPP10_uc002tle.2_Missense_Mutation_p.N94D|DPP10_uc002tlf.1_Missense_Mutation_p.N83D	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	90	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TCGGTGGATCAATGGTAAGTG	0.294													G	116101485	A	G	116101485	3	3	262	1	0	0	0	0	1	0	0	0	4727	130	5	3	449	3	DPP10	2	116101485	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	88513728	116101485	127097888	17	129322											
MCM6	4175	broad.mit.edu	37	chr2	136616960	136616960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttaagccagcagcacTggacgctttaccactggtgt	11	11	0	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:136616960T>C	uc002tuw.2	-	9	1349	c.1273A>G	c.(1273-1275)AGT>GGT	p.S425G		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	425	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				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CCAGCAGCACTGGACGCTTTA	0.443													C	136616960	T	C	136616960	3	2	262	1	0	0	0	0	1	0	0	0	9391	1580	55	3	1228	3	MCM6	2	136616960	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	20515475	136616960	106582413	18	129323											
THSD7B	80731	broad.mit.edu	37	chr2	138414450	138414450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctttgagactgtgggccGccagtctagatcaaggactt	12	9	2	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:138414450G>T	uc002tva.1	+	22	4103	c.4103G>T	c.(4102-4104)CGC>CTC	p.R1368L	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGTGGGCCGCCAGTCTAGA	0.473													T	138414450	G	T	138414450	3	4	262	1	0	0	0	0	1	0	0	0	15877	1087	38	5	4188	5	THSD7B	2	138414450	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	1797490	138414450	104784923	19	129324											
NRP2	8828	broad.mit.edu	37	chr2	206617692	206617692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcccaaacgaccggacGtttccaggtaagccagctgt	10	14	0	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:206617692G>A	uc002vaw.2	+	12	2828	c.2037G>A	c.(2035-2037)ACG>ACA	p.T679T	NRP2_uc002vau.2_Silent_p.T679T|NRP2_uc002vav.2_Silent_p.T679T|NRP2_uc002vax.2_Silent_p.T679T|NRP2_uc002vay.2_Silent_p.T679T	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	679	Extracellular (Potential).|MAM.				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			skin(2)|ovary(1)|central_nervous_system(1)	4						ACGACCGGACGTTTCCAGGTA	0.527													A	206617692	G	A	206617692	2	1	262	1	0	0	0	0	0	0	0	1	10661	1132	40	1		1	NRP2	2	206617692	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	68203242	206617692	36581681	20	129325											
B3GNT7	93010	broad.mit.edu	37	chr2	232262881	232262881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacgcagcacgaccgccgcGaggccatccgccagacctgg	12	18	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:232262881G>A	uc002vrs.2	+	2	631	c.451G>A	c.(451-453)GAG>AAG	p.E151K		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	151	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		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)		CGACCGCCGCGAGGCCATCCG	0.697													A	232262881	G	A	232262881	3	1	262	1	0	0	0	0	1	0	0	0	1262	1059	37	1	457	1	B3GNT7	2	232262881	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	25645189	232262881	10936492	21	129326											
HDAC4	9759	broad.mit.edu	37	chr2	240003864	240003864	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtggagggacatgtacagGacgctggggtcgctgtagaa	18	7	0	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr2:240003864G>A	uc002vyk.3	-	21	3363	c.2571C>T	c.(2569-2571)GTC>GTT	p.V857V	HDAC4_uc010fyy.2_Silent_p.V814V	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	857	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			breast(3)|skin(2)|ovary(1)	6		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)		ACATGTACAGGACGCTGGGGT	0.582													A	240003864	G	A	240003864	2	1	262	1	0	0	0	0	0	0	0	1	7009	1161	41	4		4	HDAC4	2	240003864	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	7740983	240003864	3195509	22	129327											
CPNE9	151835	broad.mit.edu	37	chr3	9754697	9754697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaggttgtgaaaaacaCgctgaatcctgtgtggcagc	13	8	0	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr3:9754697C>T	uc003bsd.2	+	9	755	c.584C>T	c.(583-585)ACG>ATG	p.T195M		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	195	C2 2.									ovary(2)	2	Medulloblastoma(99;0.227)					GTGAAAAACACGCTGAATCCT	0.537													T	9754697	C	T	9754697	3	4	262	1	0	0	0	0	1	0	0	0	3819	536	19	1	618	1	CPNE9	3	9754697	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		9754697	188267733	23	129328											
CCDC71	64925	broad.mit.edu	37	chr3	49201319	49201319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgacctgcaggcaacCgcatggcagttcggggagca	15	13	0	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr3:49201319C>T	uc003cwg.3	-	2	461	c.323G>A	c.(322-324)CGG>CAG	p.R108Q		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	108										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCAGGCAACCGCATGGCAGT	0.602													T	49201319	C	T	49201319	3	4	262	1	0	0	0	0	1	0	0	0	2844	652	23	1	1084	1	CCDC71	3	49201319	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	39446622	49201319	148821111	24	129329											
CNTN3	5067	broad.mit.edu	37	chr3	74350678	74350678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagtggctgtgtgcgtctTcccatcgatgacctcaggca	11	12	2	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr3:74350678T>C	uc003dpm.1	-	15	2046	c.1966A>G	c.(1966-1968)AAG>GAG	p.K656E		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	656	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		GTGTGCGTCTTCCCATCGATG	0.433													C	74350678	T	C	74350678	3	2	262	1	0	0	0	0	1	0	0	0	3642	1792	62	3	1152	3	CNTN3	3	74350678	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	25149359	74350678	123671752	25	129330											
CNTN3	5067	broad.mit.edu	37	chr3	74385746	74385746	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgccatgcaggtgtaAgttccagcatcagctttagt	9	9	2	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr3:74385746A>G	uc003dpm.1	-	11	1508	c.1428T>C	c.(1426-1428)ACT>ACC	p.T476T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	476	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		TGCAGGTGTAAGTTCCAGCAT	0.353													G	74385746	A	G	74385746	2	3	262	1	0	0	0	0	0	0	0	1	3642	59	3	3		3	CNTN3	3	74385746	Silent	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	35068	74385746	123636684	26	129331											
ZBTB38	253461	broad.mit.edu	37	chr3	141162486	141162486	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcctaccattggacaaaatgGaggttcattcacaggtccag	9	10	2	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr3:141162486G>C	uc003etw.2	+	8	2238	c.1256G>C	c.(1255-1257)GGA>GCA	p.G419A	ZBTB38_uc010hun.2_Missense_Mutation_p.G416A|ZBTB38_uc010huo.2_Missense_Mutation_p.G419A|ZBTB38_uc003ety.2_Missense_Mutation_p.G419A|ZBTB38_uc010hup.2_Missense_Mutation_p.G420A	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	419					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GGACAAAATGGAGGTTCATTC	0.433													C	141162486	G	C	141162486	3	2	262	1	0	0	0	0	1	0	0	0	17536	1174	41	5	1258	5	ZBTB38	3	141162486	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	66776740	141162486	56859944	27	129332											
LRBA	987	broad.mit.edu	37	chr4	151223860	151223860	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgaccctgagagaatgTagcaatttcccccaatatat	7	11	0	3	rs150233251		TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr4:151223860T>A	uc010ipj.2	-	54	8441	c.7967A>T	c.(7966-7968)TAC>TTC	p.Y2656F	LRBA_uc010ipi.2_Missense_Mutation_p.Y178F|LRBA_uc003ils.3_Missense_Mutation_p.Y551F|LRBA_uc003ilt.3_Missense_Mutation_p.Y1304F|LRBA_uc003ilu.3_Missense_Mutation_p.Y2645F|LRBA_uc003ilr.3_Missense_Mutation_p.Y76F	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2656	WD 3.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TGAGAGAATGTAGCAATTTCC	0.438													A	151223860	T	A	151223860	3	1	262	1	0	0	0	0	1	0	0	0	8931	1638	57	5	644	5	LRBA	4	151223860	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08		151223860	39930416	28	129333											
TRIML2	205860	broad.mit.edu	37	chr4	189012685	189012685	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatgagggacatctcggtcaCattgtagaatgatatctgcc	10	8	3	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr4:189012685C>G	uc003izl.2	-	7	1042	c.1006G>C	c.(1006-1008)GTG>CTG	p.V336L	TRIML2_uc003izj.1_Missense_Mutation_p.V164L|TRIML2_uc003izk.1_Missense_Mutation_p.V144L|TRIML2_uc011cle.1_Missense_Mutation_p.V411L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	336	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		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)		ATCTCGGTCACATTGTAGAAT	0.498													G	189012685	C	G	189012685	3	3	262	1	0	0	0	0	1	0	0	0	16548	478	17	5	161	5	TRIML2	4	189012685	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	37788825	189012685	2141591	29	129334											
SLC12A7	10723	broad.mit.edu	37	chr5	1063979	1063979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctccaccacctccacctCggcgctgatgcgcaagtggt	9	17	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:1063979C>T	uc003jbu.2	-	20	2785	c.2719G>A	c.(2719-2721)GAG>AAG	p.E907K		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	907	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	ACCTCCACCTCGGCGCTGATG	0.403													T	1063979	C	T	1063979	3	4	262	1	0	0	0	0	1	0	0	0	14388	893	31	1	552	1	SLC12A7	5	1063979	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		1063979	179851281	30	129335											
BASP1	10409	broad.mit.edu	37	chr5	17275371	17275371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagggctacaatgtgaacGacgagaaagccaaggagaaa	13	6	0	4			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:17275371G>A	uc003jfx.2	+	2	225	c.46G>A	c.(46-48)GAC>AAC	p.D16N		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	16					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0						CAATGTGAACGACGAGAAAGC	0.572													A	17275371	G	A	17275371	3	1	262	1	0	0	0	0	1	0	0	0	1317	1058	37	1	48	1	BASP1	5	17275371	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	16211392	17275371	163639889	31	129336											
ADAMTS12	81792	broad.mit.edu	37	chr5	33624378	33624378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctttctcacagtctggcAggaagagccatctcccaggc	9	14	4	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:33624378A>G	uc003jia.1	-	14	2264	c.2101T>C	c.(2101-2103)TGC>CGC	p.C701R	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	701	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						ACAGTCTGGCAGGAAGAGCCA	0.502										HNSCC(64;0.19)			G	33624378	A	G	33624378	3	3	262	1	0	0	0	0	1	0	0	0	257	188	7	3	2727	3	ADAMTS12	5	33624378	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	16349007	33624378	147290882	32	129337											
LMBRD2	92255	broad.mit.edu	37	chr5	36122478	36122478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagcactagtttcattttTtgctacatcttctagataaa	5	7	3	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:36122478T>C	uc003jkb.1	-	9	1439	c.1024A>G	c.(1024-1026)AAA>GAA	p.K342E		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	342	Cytoplasmic (Potential).					integral to membrane					0	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)			GTTTCATTTTTTGCTACATCT	0.343													C	36122478	T	C	36122478	3	2	262	1	0	0	0	0	1	0	0	0	8843	1850	64	3	1103	3	LMBRD2	5	36122478	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	2498100	36122478	144792782	33	129338											
WDR70	55100	broad.mit.edu	37	chr5	37381716	37381716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttaggtaaaaaagctcGcacatttgacttggaagcaa	9	6	0	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:37381716G>A	uc003jkv.2	+	3	162	c.104G>A	c.(103-105)CGC>CAC	p.R35H	WDR70_uc010iva.1_Missense_Mutation_p.R35H	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	35										ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAAGCTCGCACATTTGAC	0.378													A	37381716	G	A	37381716	3	1	262	1	0	0	0	0	1	0	0	0	17318	1087	38	1	114	1	WDR70	5	37381716	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	1259238	37381716	143533544	34	129339											
CARD6	84674	broad.mit.edu	37	chr5	40852977	40852977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catggtgttttcctgatagcGatgatagaaaggaaaacccc	10	8	0	3	rs76751505	by1000genomes	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:40852977G>A	uc003jmg.2	+	3	1618	c.1543G>A	c.(1543-1545)GAT>AAT	p.D515N		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	515					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						TCCTGATAGCGATGATAGAAA	0.413													A	40852977	G	A	40852977	3	1	262	1	0	0	0	0	1	0	0	0	2650	1058	37	1	1553	1	CARD6	5	40852977	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	3471261	40852977	140062283	35	129340											
HEATR7B2	133558	broad.mit.edu	37	chr5	41009497	41009497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcgccttccacaatGtctttgtgtccctagggtgg	11	13	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:41009497G>A	uc003jmj.3	-	32	3795	c.3305C>T	c.(3304-3306)ACA>ATA	p.T1102I	HEATR7B2_uc003jmi.3_Missense_Mutation_p.T657I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1102							binding			ovary(6)|central_nervous_system(2)	8						CTTCCACAATGTCTTTGTGTC	0.478													A	41009497	G	A	41009497	3	1	262	1	0	0	0	0	1	0	0	0	7035	1377	48	4	1496	4	HEATR7B2	5	41009497	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	156520	41009497	139905763	36	129341											
HEATR7B2	133558	broad.mit.edu	37	chr5	41065470	41065470	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagccagggcaagcacaacGaattcatctggtagctctaa	9	11	4	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:41065470G>A	uc003jmj.3	-	4	814	c.324C>T	c.(322-324)TTC>TTT	p.F108F		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	108							binding			ovary(6)|central_nervous_system(2)	8						CAAGCACAACGAATTCATCTG	0.418													A	41065470	G	A	41065470	2	1	262	1	0	0	0	0	0	0	0	1	7035	1049	37	1		1	HEATR7B2	5	41065470	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	55973	41065470	139849790	37	129342											
ADAMTS19	171019	broad.mit.edu	37	chr5	128844930	128844930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcattactgtggtatcaTttcaggtaaatgccttctcc	7	10	4	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:128844930T>G	uc003kvb.1	+	3	890	c.890T>G	c.(889-891)ATT>AGT	p.I297S	ADAMTS19_uc003kvc.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	297	Cysteine switch (By similarity).				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		TGTGGTATCATTTCAGGTAAA	0.383													G	128844930	T	G	128844930	3	3	262	1	0	0	0	0	1	0	0	0	264	1493	52	5	900	5	ADAMTS19	5	128844930	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	87779460	128844930	52070330	38	129343											
PCDHB13	56123	broad.mit.edu	37	chr5	140595117	140595117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacatccgcagcgtcagCgctacagacagagactcagg	11	14	2	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:140595117C>T	uc003lja.1	+	1	1609	c.1422C>T	c.(1420-1422)AGC>AGT	p.S474S		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	474	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCGTCAGCGCTACAGACA	0.637													T	140595117	C	T	140595117	2	4	262	1	0	0	0	0	0	0	0	1	11538	767	27	1		1	PCDHB13	5	140595117	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	11750187	140595117	40320143	39	129344											
PCDHGB6	56100	broad.mit.edu	37	chr5	140789451	140789451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaatgacaacgcaccgcGggtgctgtacccagctctgg	12	15	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:140789451G>A	uc003lkj.1	+	1	1682	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.R561Q	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	561	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCACCGCGGGTGCTGTAC	0.657													A	140789451	G	A	140789451	3	1	262	1	0	0	0	0	1	0	0	0	11567	1116	39	1	1684	1	PCDHGB6	5	140789451	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	194334	140789451	40125809	40	129345											
HDAC3	8841	broad.mit.edu	37	chr5	141009657	141009657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagatgcgcctgtgtaaCgcgagcagaactcaaagagc	13	10	1	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:141009657C>T	uc003llf.2	-	4	383	c.317G>A	c.(316-318)CGT>CAT	p.R106H	HDAC3_uc003lle.1_Missense_Mutation_p.R49H|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	106	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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GCCTGTGTAACGCGAGCAGAA	0.567													T	141009657	C	T	141009657	3	4	262	1	0	0	0	0	1	0	0	0	7008	536	19	1	1017	1	HDAC3	5	141009657	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	220206	141009657	39905603	41	129346											
PPP2R2B	5521	broad.mit.edu	37	chr5	145979951	145979951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcccactgtggctgaacTtcacatccgaaatcgaagag	8	13	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr5:145979951T>G	uc003loe.2	-	7	1388	c.863A>C	c.(862-864)AAG>ACG	p.K288T	PPP2R2B_uc010jgm.2_Missense_Mutation_p.K277T|PPP2R2B_uc003log.3_Missense_Mutation_p.K288T|PPP2R2B_uc003lof.3_Missense_Mutation_p.K288T|PPP2R2B_uc003loi.3_Missense_Mutation_p.K291T|PPP2R2B_uc003loh.3_Missense_Mutation_p.K288T|PPP2R2B_uc003loj.3_Missense_Mutation_p.K268T|PPP2R2B_uc003lok.3_Missense_Mutation_p.K277T|PPP2R2B_uc011dbu.1_Missense_Mutation_p.K294T|PPP2R2B_uc011dbv.1_Missense_Mutation_p.K346T	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	288	WD 5.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGCTGAACTTCACATCCGA	0.438													G	145979951	T	G	145979951	3	3	262	1	0	0	0	0	1	0	0	0	12385	1609	56	5	480	5	PPP2R2B	5	145979951	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	4970294	145979951	34935309	42	129347											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826708	34826708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactaaggatacagagtcaAtgactgggtctcccctgcag	11	10	2	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr6:34826708A>G	uc003oju.3	+	14	2809	c.2575A>G	c.(2575-2577)ATG>GTG	p.M859V	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	859	Potential.									ovary(3)	3						TACAGAGTCAATGACTGGGTC	0.552													G	34826708	A	G	34826708	3	3	262	1	0	0	0	0	1	0	0	0	16965	101	4	3	2629	3	UHRF1BP1	6	34826708	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08		34826708	136288359	43	129348											
EYS	346007	broad.mit.edu	37	chr6	66204928	66204928	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttttagtctgcagccaaAaagtaactgatcttccgttg	7	10	2	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr6:66204928A>C	uc011dxu.1	-	4	914	c.376T>G	c.(376-378)TTT>GTT	p.F126V	EYS_uc003peq.2_Missense_Mutation_p.F126V|EYS_uc003per.1_Missense_Mutation_p.F126V|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	126					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						CTGCAGCCAAAAAGTAACTGA	0.383													C	66204928	A	C	66204928	3	2	262	1	0	0	0	0	1	0	0	0	5332	14	1	5	9180	5	EYS	6	66204928	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	31378220	66204928	104910139	44	129349											
HECA	51696	broad.mit.edu	37	chr6	139488014	139488014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccacttcagcggccccCgctcctccagatacctcggg	9	20	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr6:139488014C>T	uc003qin.2	+	2	1150	c.865C>T	c.(865-867)CGC>TGC	p.R289C		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	289					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CAGCGGCCCCCGCTCCTCCAG	0.647													T	139488014	C	T	139488014	3	4	262	1	0	0	0	0	1	0	0	0	7038	652	23	1	871	1	HECA	6	139488014	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	73283086	139488014	31627053	45	129350											
TWIST1	7291	broad.mit.edu	37	chr7	19156576	19156576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgaacgcctcgttcagCgactgggtgcgctggcgctc	16	14	1	0	rs144664279	byFrequency	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr7:19156576C>T	uc003sum.2	-	1	720	c.369G>A	c.(367-369)TCG>TCA	p.S123S		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	123	Helix-loop-helix motif.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						CCTCGTTCAGCGACTGGGTGC	0.572									Saethre-Chotzen_syndrome				T	19156576	C	T	19156576	2	4	262	1	0	0	0	0	0	0	0	1	16780	755	27	1		1	TWIST1	7	19156576	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		19156576	139982087	46	129351											
CAMK2B	816	broad.mit.edu	37	chr7	44259846	44259846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaatgacgtgcacgtGtgggttcaggatggtcgtgt	14	9	2	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr7:44259846G>A	uc003tkq.2	-	23	2026	c.1816C>T	c.(1816-1818)CAC>TAC	p.H606Y	CAMK2B_uc003tkp.2_Missense_Mutation_p.H482Y|CAMK2B_uc003tkx.2_Missense_Mutation_p.H442Y|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.H458Y|CAMK2B_uc003tks.2_Missense_Mutation_p.H457Y|CAMK2B_uc003tku.2_Missense_Mutation_p.H443Y|CAMK2B_uc003tkv.2_Missense_Mutation_p.H419Y|CAMK2B_uc003tkt.2_Missense_Mutation_p.H432Y|CAMK2B_uc003tkw.2_Missense_Mutation_p.H389Y|CAMK2B_uc010kyc.2_Missense_Mutation_p.H482Y|CAMK2B_uc003tkn.2_Missense_Mutation_p.H239Y	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	606					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						ACGTGCACGTGTGGGTTCAGG	0.642													A	44259846	G	A	44259846	3	1	262	1	0	0	0	0	1	0	0	0	2600	1377	48	4	188	4	CAMK2B	7	44259846	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	25103270	44259846	114878817	47	129352											
RABGEF1	27342	broad.mit.edu	37	chr7	66274183	66274183	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactggaaattaagcctcCgaatcaaccgttagcagcta	7	13	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr7:66274183C>A	uc011kee.1	+	9	1594	c.1430C>A	c.(1429-1431)CCG>CAG	p.P477Q	RABGEF1_uc003tvf.2_Missense_Mutation_p.P336Q|RABGEF1_uc003tvg.2_Missense_Mutation_p.P271Q|RABGEF1_uc010lag.2_Missense_Mutation_p.P463Q|RABGEF1_uc003tvh.2_Missense_Mutation_p.P463Q|RABGEF1_uc003tvi.2_Missense_Mutation_p.P297Q	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	680					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						ATTAAGCCTCCGAATCAACCG	0.403													A	66274183	C	A	66274183	3	1	262	1	0	0	0	0	1	0	0	0	12966	652	23	5	1418	5	RABGEF1	7	66274183	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	22014337	66274183	92864480	48	129353											
ZNHIT1	10467	broad.mit.edu	37	chr7	100865902	100865902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcgctcccaggaccccGggcagcggcgggtgctggac	16	15	0	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr7:100865902G>A	uc003uye.2	+	2	532	c.40G>A	c.(40-42)GGG>AGG	p.G14R	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	14							metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGGACCCCGGGCAGCGGCG	0.677													A	100865902	G	A	100865902	3	1	262	1	0	0	0	0	1	0	0	0	18203	1116	39	1	46	1	ZNHIT1	7	100865902	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	34591719	100865902	58272761	49	129354											
AASS	10157	broad.mit.edu	37	chr7	121753715	121753715	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctattgttgtacacTcagtcataaactctatagac	6	9	4	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr7:121753715T>G	uc003vka.2	-	9	1199	c.1103A>C	c.(1102-1104)GAG>GCG	p.E368A	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.E368A|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	368	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTTGTACACTCAGTCATAAA	0.378													G	121753715	T	G	121753715	3	3	262	1	0	0	0	0	1	0	0	0	24	1551	54	5	1737	5	AASS	7	121753715	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	20887813	121753715	37384948	50	129355											
PLXNA4	91584	broad.mit.edu	37	chr7	132193311	132193311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgattgaaaccctcggCgggctctcctcggaatgtga	13	11	1	3	rs139738239		TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr7:132193311C>T	uc003vra.3	-	2	371	c.142G>A	c.(142-144)GCC>ACC	p.A48T	PLXNA4_uc003vrc.2_Missense_Mutation_p.A48T|PLXNA4_uc003vrb.2_Missense_Mutation_p.A48T	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	48	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AAACCCTCGGCGGGCTCTCCT	0.587													T	132193311	C	T	132193311	3	4	262	1	0	0	0	0	1	0	0	0	12122	768	27	1	5980	1	PLXNA4	7	132193311	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	10439596	132193311	26945352	51	129356											
CSMD1	64478	broad.mit.edu	37	chr8	3046522	3046522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgttgagtgaaattgcCactgcagggtactaaaagac	10	8	1	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr8:3046522C>T	uc011kwk.1	-	35	5803	c.5413G>A	c.(5413-5415)GGC>AGC	p.G1805S	CSMD1_uc011kwj.1_Missense_Mutation_p.G1197S|CSMD1_uc003wqe.2_Missense_Mutation_p.G961S|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1805	Extracellular (Potential).|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)		GTGAAATTGCCACTGCAGGGT	0.453													T	3046522	C	T	3046522	3	4	262	1	0	0	0	0	1	0	0	0	3944	594	21	4	5428	4	CSMD1	8	3046522	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		3046522	143317500	52	129357											
UNC5D	137970	broad.mit.edu	37	chr8	35588553	35588553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcttactcataccacacGgtgccatcccagaggagaat	9	12	1	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr8:35588553G>A	uc003xjr.1	+	11	2033	c.1705G>A	c.(1705-1707)GGT>AGT	p.G569S	UNC5D_uc003xjs.1_Missense_Mutation_p.G564S|UNC5D_uc003xju.1_Missense_Mutation_p.G145S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	569	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATACCACACGGTGCCATCCC	0.393													A	35588553	G	A	35588553	3	1	262	1	0	0	0	0	1	0	0	0	16992	1116	39	1	1747	1	UNC5D	8	35588553	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	32542031	35588553	110775469	53	129358											
PLEKHA2	59339	broad.mit.edu	37	chr8	38810163	38810163	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttattacagcggaagagcTggaaacgtcgcttctttgca	10	8	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr8:38810163T>A	uc003xmi.3	+	8	877	c.643T>A	c.(643-645)TGG>AGG	p.W215R	PLEKHA2_uc011lce.1_Missense_Mutation_p.W165R	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	215	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GCGGAAGAGCTGGAAACGTCG	0.483													A	38810163	T	A	38810163	3	1	262	1	0	0	0	0	1	0	0	0	12056	1580	55	5	669	5	PLEKHA2	8	38810163	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	3221610	38810163	107553859	54	129359											
MRPS28	28957	broad.mit.edu	37	chr8	80942415	80942417	+	In_Frame_Del	DEL	GAA	GAA	-													cctacaccccgaaagggcctGaagaagagaaacactcgcag							TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr8:80942414_80942416TGAA>T	uc003ybp.3	-	0	91_93	c.68_70TTCA>A	c.(67-72)ttcagg>tAgg	p.23_24FR>*	TPD52_uc010lzr.3_Intron	NM_014018	NP_054737	Q9Y2Q9	RT28_HUMAN	Homo sapiens mitochondrial ribosomal protein S28 (MRPS28), nuclear gene encoding mitochondrial protein, mRNA.	23						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)			CGAAAGGGCCTGAAGAAGAGAAA	0.586													-	80942417	GAA	-	80942415	7	5	262	1	0	1	0	1	0	0	0	0	9839	1281	45	0	506	0	MRPS28	8	80942415	In_Frame_Del	DEL	GAA	TCGA-HU-A4G3-01A-11D-A24D-08	42132252	80942415	65421607	55	129360											
FLJ43860	389690	broad.mit.edu	37	chr8	142446139	142446139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtccccgaacagtgcCatggctgccgcccgaatccc	10	18	0	0	rs141065384	by1000genomes	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr8:142446139C>T	uc003ywi.2	-	28	3510	c.3429G>A	c.(3427-3429)ATG>ATA	p.M1143I	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1143							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			CGAACAGTGCCATGGCTGCCG	0.677													T	142446139	C	T	142446139	3	4	262	1	0	0	0	0	1	0	0	0	5930	594	21	4	547	4	FLJ43860	8	142446139	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	61503724	142446139	3917883	56	129361											
ZFAND5	7763	broad.mit.edu	37	chr9	74975570	74975571	+	Missense_Mutation	DNP	TG	TG	GT													ggctcattctgccactatttTgctgcctctgaagatgttct							TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr9:74975570_74975571TG>GT	uc004aiv.2	-	2	402_403	c.124_125CA>AC	c.(124-126)CAA>ACA	p.Q42T	ZFAND5_uc010mox.1_5'Flank|ZFAND5_uc010moy.1_Missense_Mutation_p.Q42T|ZFAND5_uc004aix.2_Missense_Mutation_p.Q42T|ZFAND5_uc004aiw.2_Missense_Mutation_p.Q42T|ZFAND5_uc004aiy.2_Missense_Mutation_p.Q42T	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	42	A20-type.						DNA binding|zinc ion binding				0						GCCACTATTTTGCTGCCTCTGA	0.441													GT	74975571	TG	GT	74975570	3	3	262	1	0	0	0	0	1	0	0	0	17627	1812	63	5	536	5	ZFAND5	9	74975570	Missense_Mutation	DNP	TG	TCGA-HU-A4G3-01A-11D-A24D-08		74975570	66237861	57	129362											
BARHL1	56751	broad.mit.edu	37	chr9	135458244	135458244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccgcgcgggcagcccCgcccttcccaagggggaccc	12	21	0	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr9:135458244C>T	uc004cbp.1	+	1	252	c.60C>T	c.(58-60)CCC>CCT	p.P20P		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	20						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CGGGCAGCCCCGCCCTTCCCA	0.657													T	135458244	C	T	135458244	2	4	262	1	0	0	0	0	0	0	0	1	1313	639	23	1		1	BARHL1	9	135458244	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	60482674	135458244	5755187	58	129363											
TET1	80312	broad.mit.edu	37	chr10	70446268	70446268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatctggggccatcgaggtCctggcaccccgccgcaaaaa	11	14	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr10:70446268C>T	uc001jok.3	+	11	5713	c.5208C>T	c.(5206-5208)GTC>GTT	p.V1736V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1736					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CCATCGAGGTCCTGGCACCCC	0.502													T	70446268	C	T	70446268	2	4	262	1	0	0	0	0	0	0	0	1	15766	842	30	4		4	TET1	10	70446268	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		70446268	65088479	59	129364											
GRID1	2894	broad.mit.edu	37	chr10	87484323	87484323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgctgattttctcctcGggcttcttaattagaatccc	7	10	2	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr10:87484323G>A	uc001kdl.1	-	11	1745	c.1644C>T	c.(1642-1644)CCC>CCT	p.P548P	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.P119P	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	548	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TTTTCTCCTCGGGCTTCTTAA	0.512										Multiple Myeloma(13;0.14)			A	87484323	G	A	87484323	2	1	262	1	0	0	0	0	0	0	0	1	6771	1103	39	1		1	GRID1	10	87484323	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	17038055	87484323	48050424	60	129365											
SORCS3	22986	broad.mit.edu	37	chr10	107015496	107015496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgctctcaaccaaaatTtggtccagtttgagctgaag	8	8	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr10:107015496T>G	uc001kyi.1	+	24	3501	c.3274T>G	c.(3274-3276)TTG>GTG	p.L1092V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1092	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		CAACCAAAATTTGGTCCAGTT	0.463													G	107015496	T	G	107015496	3	3	262	1	0	0	0	0	1	0	0	0	14932	1838	64	5	3368	5	SORCS3	10	107015496	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	19531173	107015496	28519251	61	129366											
NHLRC2	374354	broad.mit.edu	37	chr10	115668195	115668195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttactgtagtgcagacagcaGtgcttgtatgatgaaggcaa	12	6	0	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr10:115668195G>T	uc001lax.1	+	11	2293	c.2081G>T	c.(2080-2082)AGT>ATT	p.S694I	NHLRC2_uc001lay.1_RNA	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	694					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		GCAGACAGCAGTGCTTGTATG	0.388													T	115668195	G	T	115668195	3	4	262	1	0	0	0	0	1	0	0	0	10406	1029	36	5	2123	5	NHLRC2	10	115668195	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	8652699	115668195	19866552	62	129367											
OR5P2	120065	broad.mit.edu	37	chr11	7817743	7817743	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acataaatgaaggtaatggtCccatagaacagggtaaccac	9	8	0	2	rs148357349	byFrequency	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:7817743C>A	uc001mfp.1	-	1	747	c.747G>T	c.(745-747)GGG>GGT	p.G249G		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTAATGGTCCCATAGAACA	0.493													A	7817743	C	A	7817743	2	1	262	1	0	0	0	0	0	0	0	1	11178	842	30	5		5	OR5P2	11	7817743	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		7817743	127188773	63	129368											
OR10A3	26496	broad.mit.edu	37	chr11	7960148	7960148	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtgtgtaaaatcacttttCttcgccatagttttatcaaa	5	7	3	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:7960148C>T	uc010rbi.1	-	1	920	c.920G>A	c.(919-921)AGA>AAA	p.R307K		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATCACTTTTCTTCGCCATAG	0.388													T	7960148	C	T	7960148	3	4	262	1	0	0	0	0	1	0	0	0	10891	913	32	4	27	4	OR10A3	11	7960148	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	142405	7960148	127046368	64	129369											
C11orf16	56673	broad.mit.edu	37	chr11	8951070	8951070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgtggagacatgggcaagAagaggcatgcctggaaaaaa	14	6	0	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:8951070A>G	uc001mhb.3	-	3	302	c.178T>C	c.(178-180)TCT>CCT	p.S60P	C11orf16_uc001mhc.3_Missense_Mutation_p.S60P	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	60										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CATGGGCAAGAAGAGGCATGC	0.527													G	8951070	A	G	8951070	3	3	262	1	0	0	0	0	1	0	0	0	1631	246	9	3	1241	3	C11orf16	11	8951070	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	990922	8951070	126055446	65	129370											
IPO7	10527	broad.mit.edu	37	chr11	9435873	9435873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagttctaaaggatcGttttatccagcttctttctg	7	10	4	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:9435873G>A	uc001mho.2	+	5	693	c.551G>A	c.(550-552)CGT>CAT	p.R184H		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	184					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTAAAGGATCGTTTTATCCAG	0.403													A	9435873	G	A	9435873	3	1	262	1	0	0	0	0	1	0	0	0	7797	1145	40	1	569	1	IPO7	11	9435873	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	484803	9435873	125570643	66	129371											
PC	5091	broad.mit.edu	37	chr11	66617864	66617864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatggtggccgtgcagtCgaaggccgcgtacagtcccc	13	14	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:66617864C>T	uc001ojn.1	-	17	2594	c.2545G>A	c.(2545-2547)GAC>AAC	p.D849N	PC_uc001ojo.1_Missense_Mutation_p.D849N|PC_uc001ojp.1_Missense_Mutation_p.D849N|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	849					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCCGTGCAGTCGAAGGCCGCG	0.617													T	66617864	C	T	66617864	3	4	262	1	0	0	0	0	1	0	0	0	11497	884	31	1	1011	1	PC	11	66617864	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	57181991	66617864	68388652	67	129372											
P2RY6	5031	broad.mit.edu	37	chr11	73008215	73008215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctactgtctcctggcctgcCgcctgtgccgccaggatggc	13	16	1	0	rs141420011		TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:73008215C>T	uc001otm.2	+	4	1057	c.652C>T	c.(652-654)CGC>TGC	p.R218C	P2RY6_uc001otn.2_Missense_Mutation_p.R218C|P2RY6_uc001oto.2_Missense_Mutation_p.R218C|P2RY6_uc001otp.2_Missense_Mutation_p.R218C|P2RY6_uc001otq.2_Missense_Mutation_p.R218C|P2RY6_uc001otr.2_Missense_Mutation_p.R218C|P2RY6_uc001ots.2_Missense_Mutation_p.R218C	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	218	Cytoplasmic (Potential).				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			ovary(1)	1						CCTGGCCTGCCGCCTGTGCCG	0.677													T	73008215	C	T	73008215	3	4	262	1	0	0	0	0	1	0	0	0	11354	652	23	1	654	1	P2RY6	11	73008215	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	6390351	73008215	61998301	68	129373											
RSF1	51773	broad.mit.edu	37	chr11	77411864	77411864	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcttccacctcatcttCtccttcccctctttttttat	0	17	6	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:77411864C>T	uc001oyn.2	-	6	2530	c.2410G>A	c.(2410-2412)GAA>AAA	p.E804K	RSF1_uc001oym.2_Missense_Mutation_p.E552K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	804					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			ovary(2)|central_nervous_system(2)	4	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)			ACCTCATCTTCTCCTTCCCCT	0.373													T	77411864	C	T	77411864	3	4	262	1	0	0	0	0	1	0	0	0	13699	922	32	4	1959	4	RSF1	11	77411864	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	4403649	77411864	57594652	69	129374											
C11orf82	220042	broad.mit.edu	37	chr11	82642855	82642863	+	In_Frame_Del	DEL	GCACTAGTG	GCACTAGTG	-													accacaaaagaaaagccaaaGcactagtggcttgccagatt							TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:82642854_82642862AGCACTAGTG>A	uc001ozt.3	+	5	718_726	c.474_482AGCACTAGTG>A	c.(472-483)aaagcactagtg>aaAg	p.ALV159del	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_In_Frame_Del_p.ALV159del	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	159					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						GAAAAGCCAAAGCACTAGTGGCTTGCCAG	0.407													-	82642863	GCACTAGTG	-	82642855	7	5	262	1	0	1	0	1	0	0	0	0	1665	971	34	0	489	0	C11orf82	11	82642855	In_Frame_Del	DEL	GCACTAGTG	TCGA-HU-A4G3-01A-11D-A24D-08	5230991	82642855	52363661	70	129375											
FAT3	120114	broad.mit.edu	37	chr11	92616096	92616096	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaggagctcatcggcatCgccgtggtcctcttcgtcat	12	12	3	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:92616096C>T	uc001pdj.3	+	23	12491	c.12474C>T	c.(12472-12474)ATC>ATT	p.I4158I	FAT3_uc001pdi.3_Silent_p.I598I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4158	Helical; (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATCGGCATCGCCGTGGTCC	0.597										TCGA Ovarian(4;0.039)			T	92616096	C	T	92616096	2	4	262	1	0	0	0	0	0	0	0	1	5691	874	31	1		1	FAT3	11	92616096	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	9973241	92616096	42390420	71	129376											
CNTN5	53942	broad.mit.edu	37	chr11	99932018	99932018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgcggaaatctcaggCggtgctggaaataccgaatg	13	9	2	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:99932018C>T	uc001pga.2	+	10	1394	c.1055C>T	c.(1054-1056)GCG>GTG	p.A352V	CNTN5_uc009ywv.1_Missense_Mutation_p.A352V|CNTN5_uc001pfz.2_Missense_Mutation_p.A352V|CNTN5_uc001pgb.2_Missense_Mutation_p.A278V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	352	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		AAATCTCAGGCGGTGCTGGAA	0.433													T	99932018	C	T	99932018	3	4	262	1	0	0	0	0	1	0	0	0	3644	768	27	1	1085	1	CNTN5	11	99932018	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	7315922	99932018	35074498	72	129377											
DDI1	414301	broad.mit.edu	37	chr11	103907764	103907764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaaagatggcgatatcGtggttttactgcagaaggac	12	8	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr11:103907764G>A	uc001phr.2	+	1	457	c.214G>A	c.(214-216)GTG>ATG	p.V72M	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	72	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		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)		TGGCGATATCGTGGTTTTACT	0.592													A	103907764	G	A	103907764	3	1	262	1	0	0	0	0	1	0	0	0	4328	1145	40	1	216	1	DDI1	11	103907764	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	3975746	103907764	31098752	73	129378											
GRIN2B	2904	broad.mit.edu	37	chr12	13717533	13717533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagttcattacagactggCgctcctcgatcgccacccca	10	15	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr12:13717533C>T	uc001rbt.2	-	13	2818	c.2639G>A	c.(2638-2640)CGC>CAC	p.R880H		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	880	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACAGACTGGCGCTCCTCGAT	0.537													T	13717533	C	T	13717533	3	4	262	1	0	0	0	0	1	0	0	0	6780	768	27	1	1819	1	GRIN2B	12	13717533	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		13717533	120134362	74	129379											
MLXIP	22877	broad.mit.edu	37	chr12	122617978	122617978	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaccgccccatccctggcTcacatggatgagcagggctg	11	16	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr12:122617978T>G	uc001ubq.2	+	9	1176	c.1176T>G	c.(1174-1176)GCT>GCG	p.A392A	MLXIP_uc001ubr.2_Silent_p.A143A|MLXIP_uc001ubs.1_5'UTR|MLXIP_uc001ubt.2_5'UTR	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	392	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	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)		CATCCCTGGCTCACATGGATG	0.627													G	122617978	T	G	122617978	2	3	262	1	0	0	0	0	0	0	0	1	9636	1538	54	5		5	MLXIP	12	122617978	Silent	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	108900445	122617978	11233917	75	129380											
VPS37B	79720	broad.mit.edu	37	chr12	123380549	123380549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccctcgtcctccagcaGctcgttgagctgcaccagcg	11	17	0	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr12:123380549G>A	uc001udl.2	-	1	164	c.61C>T	c.(61-63)CTG>TTG	p.L21L		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	21					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	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)		TCCTCCAGCAGCTCGTTGAGC	0.711													A	123380549	G	A	123380549	2	1	262	1	0	0	0	0	0	0	0	1	17203	962	34	2		2	VPS37B	12	123380549	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	762571	123380549	10471346	76	129381											
GALNT9	50614	broad.mit.edu	37	chr12	132682498	132682498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccatcagcgctgtaccGcaccagctggggacaggacc	12	15	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr12:132682498G>A	uc001ukc.3	-	10	1620	c.1504C>T	c.(1504-1506)CGG>TGG	p.R502W	GALNT9_uc009zyr.2_Missense_Mutation_p.R276W|GALNT9_uc001ukb.2_Missense_Mutation_p.R359W|GALNT9_uc001uka.2_Missense_Mutation_p.R136W	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	502	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	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)		GCGCTGTACCGCACCAGCTGG	0.657													A	132682498	G	A	132682498	3	1	262	1	0	0	0	0	1	0	0	0	6220	1086	38	1	315	1	GALNT9	12	132682498	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	9301949	132682498	1169397	77	129382											
WBP4	11193	broad.mit.edu	37	chr13	41642805	41642805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaagaaaaaaagatccttCaaagggcagatgggtagaag	12	4	1	4			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr13:41642805C>T	uc001uxt.2	+	5	484	c.371C>T	c.(370-372)TCA>TTA	p.S124L	WBP4_uc010tfd.1_Missense_Mutation_p.S103L	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	124	WW 1.|Lys-rich.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		aaagaTCCTTCAAAGGGCAGA	0.348													T	41642805	C	T	41642805	3	4	262	1	0	0	0	0	1	0	0	0	17258	838	29	4	389	4	WBP4	13	41642805	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		41642805	73527073	78	129383											
DIAPH3	81624	broad.mit.edu	37	chr13	60407354	60407354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtataacttttccatgttttCgtgtaacttcgaaagtgtct	7	7	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr13:60407354C>T	uc001vht.2	-	24	3133	c.2914G>A	c.(2914-2916)GAA>AAA	p.E972K	DIAPH3_uc001vhu.2_Missense_Mutation_p.E709K	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCCATGTTTTCGTGTAACTTC	0.343													T	60407354	C	T	60407354	3	4	262	1	0	0	0	0	1	0	0	0	4520	893	31	1	707	1	DIAPH3	13	60407354	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	18764549	60407354	54762524	79	129384											
GRK1	6011	broad.mit.edu	37	chr13	114325921	114325921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcacctgcaccagaggcGgatcgtctaccgcgacctca	12	15	2	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr13:114325921G>A	uc010tkf.1	+	3	1043	c.935G>A	c.(934-936)CGG>CAG	p.R312Q		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	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)			CACCAGAGGCGGATCGTCTAC	0.547													A	114325921	G	A	114325921	3	1	262	1	0	0	0	0	1	0	0	0	6790	1116	39	1	945	1	GRK1	13	114325921	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	53918567	114325921	843957	80	129385											
FITM1	161247	broad.mit.edu	37	chr14	24601501	24601501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgttcctggctacacgGcgcgtggcagtaactgccag	15	11	0	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr14:24601501G>A	uc001wmf.2	+	2	446	c.348G>A	c.(346-348)CGG>CGA	p.R116R		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	fat-inducing transcript 1	116	Extracellular (Potential).				lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane					0						TGGCTACACGGCGCGTGGCAG	0.602													A	24601501	G	A	24601501	2	1	262	1	0	0	0	0	0	0	0	1	5898	1190	42	2		2	FITM1	14	24601501	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08		24601501	82748039	81	129386											
MTMR15	22909	broad.mit.edu	37	chr15	31218089	31218089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccccaccacggtcctgtGctctgtggaggagctggcac	13	14	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr15:31218089G>A	uc001zff.2	+	10	2726	c.2435G>A	c.(2434-2436)TGC>TAC	p.C812Y	MTMR15_uc001zfe.2_Missense_Mutation_p.C417Y	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	812					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		ACGGTCCTGTGCTCTGTGGAG	0.627								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	31218089	G	A	31218089	3	1	262	1	0	0	0	0	1	0	0	0	9943	1319	46	2	2494	2	MTMR15	15	31218089	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08		31218089	71313303	82	129387											
DISP2	85455	broad.mit.edu	37	chr15	40660756	40660757	+	Frame_Shift_Del	DEL	CT	CT	-													cccagcgctggctgctggcaCtctgtcaccgggcccggaat							TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr15:40660755_40660756ACT>A	uc001zlk.1	+	7	2531_2532	c.2442_2443ACT>A	c.(2440-2445)gcactcfs	p.A814fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	814					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)		GGCTGCTGGCACTCTGTCACCG	0.668													-	40660757	CT	-	40660756	7	5	262	1	0	1	0	1	0	0	0	0	4540	565	20	0	2473	0	DISP2	15	40660756	Frame_Shift_Del	DEL	CT	TCGA-HU-A4G3-01A-11D-A24D-08	9442667	40660756	61870636	83	129388											
CAPN3	825	broad.mit.edu	37	chr15	42695123	42695123	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcccagcgagtacgtcatCgtgccctccacctacgagcc	8	19	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr15:42695123C>T	uc001zpn.1	+	13	1974	c.1668C>T	c.(1666-1668)ATC>ATT	p.I556I	CAPN3_uc001zpk.1_Silent_p.I329I|CAPN3_uc001zpl.1_Silent_p.I469I|CAPN3_uc010udf.1_Silent_p.I469I|CAPN3_uc010udg.1_Silent_p.I421I|CAPN3_uc001zpo.1_Silent_p.I556I|CAPN3_uc001zpp.1_Silent_p.I508I|CAPN3_uc001zpq.1_Silent_p.I44I|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	556	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTACGTCATCGTGCCCTCCA	0.592													T	42695123	C	T	42695123	2	4	262	1	0	0	0	0	0	0	0	1	2628	874	31	1		1	CAPN3	15	42695123	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	2034367	42695123	59836269	84	129389											
LCMT2	9836	broad.mit.edu	37	chr15	43621183	43621183	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttagtacaggttccaccacgCttcgacccccatacacaaac	5	16	0	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr15:43621183C>A	uc001zrg.2	-	1	1709	c.1505G>T	c.(1504-1506)AGC>ATC	p.S502I	LCMT2_uc010udn.1_Missense_Mutation_p.S81I|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	502					tRNA processing		methyltransferase activity|protein binding				0		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)	TTCCACCACGCTTCGACCCCC	0.507													A	43621183	C	A	43621183	3	1	262	1	0	0	0	0	1	0	0	0	8679	797	28	5	559	5	LCMT2	15	43621183	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	926060	43621183	58910209	85	129390											
B2M	567	broad.mit.edu	37	chr15	45007694	45007694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcctgaattgctatgtGtctgggtttcatccatccga	8	9	2	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr15:45007694G>A	uc001zuc.2	+	2	201	c.141G>A	c.(139-141)GTG>GTA	p.V47V	B2M_uc010uek.1_Silent_p.V47V|B2M_uc010bdx.1_Silent_p.V47V	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	47	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			ovary(2)|skin(1)	3		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)		ATTGCTATGTGTCTGGGTTTC	0.413													A	45007694	G	A	45007694	2	1	262	1	0	0	0	0	0	0	0	1	1244	1364	48	4		4	B2M	15	45007694	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	1386511	45007694	57523698	86	129391											
SEMA6D	80031	broad.mit.edu	37	chr15	48056944	48056945	+	Frame_Shift_Ins	INS	-	-	T													tcccctgatggactctgccgINSttccacccattgccgatgag							TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr15:48056943_48056944C>CT	uc010bek.3	+	11	1566_1567	c.1206_1207C>CT	c.(1204-1209)gccgttfs	p.A402fs	SEMA6D_uc001zvw.3_Frame_Shift_Ins_p.A402fs|SEMA6D_uc001zvx.1_Frame_Shift_Ins_p.A402fs|SEMA6D_uc001zvy.3_Frame_Shift_Ins_p.A402fs|SEMA6D_uc001zvz.3_Frame_Shift_Ins_p.A402fs|SEMA6D_uc001zwa.3_Frame_Shift_Ins_p.A402fs|SEMA6D_uc001zwb.3_Frame_Shift_Ins_p.A402fs|SEMA6D_uc001zwc.3_Frame_Shift_Ins_p.A402fs	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	402	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)		TGGACTCTGCCGTTCCACCCAT	0.495													T	48056945	-	T	48056944	7	5	262	1	0	1	1	0	0	0	0	0	14042	1145	40	0	1249	0	SEMA6D	15	48056944	Frame_Shift_Ins	INS	-	TCGA-HU-A4G3-01A-11D-A24D-08	3049250	48056944	54474448	87	129392											
LRRK1	79705	broad.mit.edu	37	chr15	101588825	101588825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagaccatctattggcagGaagggctcctggtcactttt	10	10	3	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr15:101588825G>A	uc002bwr.2	+	22	3581	c.3262G>A	c.(3262-3264)GAA>AAA	p.E1088K	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Intron	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1088					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			CTATTGGCAGGAAGGGCTCCT	0.527													A	101588825	G	A	101588825	3	1	262	1	0	0	0	0	1	0	0	0	9032	1175	41	4	3344	4	LRRK1	15	101588825	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	53531881	101588825	942567	88	129393											
SALL1	6299	broad.mit.edu	37	chr16	51171162	51171162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctctccaggtttcccGtcagcccactaacaggtgag	11	14	2	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:51171162G>A	uc010vgs.1	-	3	3867	c.3836C>T	c.(3835-3837)ACG>ATG	p.T1279M	SALL1_uc010vgr.1_Missense_Mutation_p.T1182M|SALL1_uc010cbv.2_Missense_Mutation_p.T131M	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1279					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGGTTTCCCGTCAGCCCACT	0.582													A	51171162	G	A	51171162	3	1	262	1	0	0	0	0	1	0	0	0	13810	1145	40	1	142	1	SALL1	16	51171162	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08		51171162	39183591	89	129394											
LPCAT2	54947	broad.mit.edu	37	chr16	55616898	55616898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatacctagacctccagaCgtgccatgtgttttcattac	6	12	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:55616898C>T	uc002eie.3	+	14	1704	c.1523C>T	c.(1522-1524)ACG>ATG	p.T508M	LPCAT2_uc002eic.2_Missense_Mutation_p.T238M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	508	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GACCTCCAGACGTGCCATGTG	0.388													T	55616898	C	T	55616898	3	4	262	1	0	0	0	0	1	0	0	0	8911	536	19	1	1577	1	LPCAT2	16	55616898	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	4445736	55616898	34737855	90	129395											
CCDC135	84229	broad.mit.edu	37	chr16	57760055	57760055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcgcgtgtttctggtcGcggaggagcgcatccagctg	16	11	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:57760055G>A	uc002emi.2	+	13	1923	c.1834G>A	c.(1834-1836)GCG>ACG	p.A612T	CCDC135_uc002emj.2_Missense_Mutation_p.A612T|CCDC135_uc002emk.2_Missense_Mutation_p.A547T	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	612						cytoplasm				central_nervous_system(1)	1						GTTTCTGGTCGCGGAGGAGCG	0.632													A	57760055	G	A	57760055	3	1	262	1	0	0	0	0	1	0	0	0	2769	1087	38	1	1880	1	CCDC135	16	57760055	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	2143157	57760055	32594698	91	129396											
LRRC36	55282	broad.mit.edu	37	chr16	67401083	67401083	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttacccatgatgcctcAttgagtaaatgcctggatgt	8	10	2	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:67401083A>G	uc002esv.2	+	8	937	c.918A>G	c.(916-918)TCA>TCG	p.S306S	LRRC36_uc002esw.2_Intron|LRRC36_uc010ceh.2_Intron|LRRC36_uc002esx.2_Silent_p.S185S|LRRC36_uc010vjk.1_Silent_p.S185S|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	306											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ATGATGCCTCATTGAGTAAAT	0.388													G	67401083	A	G	67401083	2	3	262	1	0	0	0	0	0	0	0	1	8990	204	8	3		3	LRRC36	16	67401083	Silent	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	9641028	67401083	22953670	92	129397											
DPEP3	64180	broad.mit.edu	37	chr16	68012304	68012304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggccagcttttgagagctGttcagacctagaaggaggta	13	8	1	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:68012304G>T	uc002evc.3	-	4	721	c.627C>A	c.(625-627)AAC>AAA	p.N209K	DPEP3_uc010cex.2_Missense_Mutation_p.N209K	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	184					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTTGAGAGCTGTTCAGACCTA	0.557													T	68012304	G	T	68012304	3	4	262	1	0	0	0	0	1	0	0	0	4715	1368	48	5	942	5	DPEP3	16	68012304	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	611221	68012304	22342449	93	129398											
CHST5	23563	broad.mit.edu	37	chr16	75563320	75563320	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgttgtggatccaggcctcGagctgtggcgtgagggtcag	17	8	1	1	rs79685933		TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:75563320G>A	uc002fei.2	-	3	2358	c.963C>T	c.(961-963)CTC>CTT	p.L321L	CHST5_uc002fej.1_Silent_p.L327L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	321	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TCCAGGCCTCGAGCTGTGGCG	0.662													A	75563320	G	A	75563320	2	1	262	1	0	0	0	0	0	0	0	1	3407	1045	37	1		1	CHST5	16	75563320	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	7551016	75563320	14791433	94	129399											
VAT1L	57687	broad.mit.edu	37	chr16	78005791	78005791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaccgagggaacattggCaagttaattctggatgtaga	12	7	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:78005791C>T	uc002ffg.1	+	8	1219	c.1122C>T	c.(1120-1122)GGC>GGT	p.G374G		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	374							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						GGAACATTGGCAAGTTAATTC	0.522											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	78005791	C	T	78005791	2	4	262	1	0	0	0	0	0	0	0	1	17127	697	25	2		2	VAT1L	16	78005791	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	2442471	78005791	12348962	95	129400											
TAF1C	9013	broad.mit.edu	37	chr16	84217037	84217037	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcagtcacatccagcacGactcggggccgcttccgata	10	15	2	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:84217037G>A	uc002fhn.2	-	4	525	c.297C>T	c.(295-297)GTC>GTT	p.V99V	TAF1C_uc002fhm.2_Silent_p.V32V|TAF1C_uc010vnx.1_Silent_p.V99V|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.V99V	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	99					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			ovary(1)	1						CATCCAGCACGACTCGGGGCC	0.642													A	84217037	G	A	84217037	2	1	262	1	0	0	0	0	0	0	0	1	15518	1045	37	1		1	TAF1C	16	84217037	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	6211246	84217037	6137716	96	129401											
ANKRD11	29123	broad.mit.edu	37	chr16	89349170	89349170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttggaatgttctttgtcCgacttctctttgtgtttgct	8	9	2	0	rs139288405	byFrequency	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr16:89349170C>T	uc002fmx.1	-	9	4241	c.3780G>A	c.(3778-3780)TCG>TCA	p.S1260S	ANKRD11_uc002fmy.1_Silent_p.S1260S|ANKRD11_uc002fnc.1_Silent_p.S1260S|ANKRD11_uc002fnb.1_Silent_p.S1217S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1260	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		GTTCTTTGTCCGACTTCTCTT	0.473													T	89349170	C	T	89349170	2	4	262	1	0	0	0	0	0	0	0	1	639	639	23	1		1	ANKRD11	16	89349170	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	5132133	89349170	1005583	97	129402											
TEKT1	83659	broad.mit.edu	37	chr17	6704226	6704227	+	Missense_Mutation	DNP	TA	TA	AT													gatggccttttcaagagctgTaatatttttctcctgggaag							TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr17:6704226_6704227TA>AT	uc002gdt.2	-	7	998_999	c.888_889TA>AT	c.(886-891)ATTACA>ATATCA	p.T297S	TEKT1_uc010vth.1_Missense_Mutation_p.T151S	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	297	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				TCAAGAGCTGTAATATTTTTCT	0.515													AT	6704227	TA	AT	6704226	3	1	262	1	0	0	0	0	1	0	0	0	15749	1638	57	5	375	5	TEKT1	17	6704226	Missense_Mutation	DNP	TA	TCGA-HU-A4G3-01A-11D-A24D-08		6704226	74490984	98	129403											
CHRNB1	1140	broad.mit.edu	37	chr17	7357777	7357777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagtcatccttagtgtcGtggttctcaacctgcaccac	7	14	3	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr17:7357777G>A	uc002ghb.2	+	8	1023	c.982G>A	c.(982-984)GTG>ATG	p.V328M	CHRNB1_uc010vty.1_Missense_Mutation_p.V256M|CHRNB1_uc010vtz.1_Missense_Mutation_p.V162M	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	328	Helical; (Potential).				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			ovary(2)	2		Prostate(122;0.157)				CCTTAGTGTCGTGGTTCTCAA	0.498													A	7357777	G	A	7357777	3	1	262	1	0	0	0	0	1	0	0	0	3390	1145	40	1	1012	1	CHRNB1	17	7357777	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	653551	7357777	73837433	99	129404											
KRT32	3882	broad.mit.edu	37	chr17	39619277	39619277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcgggcctcactctccGtcagcgtgttttccagggag	13	12	3	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr17:39619277G>A	uc002hwr.2	-	6	1083	c.1022C>T	c.(1021-1023)ACG>ATG	p.T341M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	341	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				CTCACTCTCCGTCAGCGTGTT	0.572													A	39619277	G	A	39619277	3	1	262	1	0	0	0	0	1	0	0	0	8468	1145	40	1	332	1	KRT32	17	39619277	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	32261500	39619277	41575933	100	129405											
KPNB1	3837	broad.mit.edu	37	chr17	45757451	45757451	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcattgaccacattgctggaGatgaggatcacacagatgga	11	8	2	4			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr17:45757451G>A	uc002ilt.1	+	20	2755	c.2419G>A	c.(2419-2421)GAT>AAT	p.D807N	KPNB1_uc010wkw.1_Missense_Mutation_p.D662N|KPNB1_uc010wkx.1_Missense_Mutation_p.D591N	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	807					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CATTGCTGGAGATGAGGATCA	0.388													A	45757451	G	A	45757451	3	1	262	1	0	0	0	0	1	0	0	0	8435	942	33	4	2497	4	KPNB1	17	45757451	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	6138174	45757451	35437759	101	129406											
ABCC3	8714	broad.mit.edu	37	chr17	48735443	48735443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccactctcccacccagGgtgagatctcagaccccttc	6	20	2	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr17:48735443G>A	uc002isl.2	+	5	567	c.487G>A	c.(487-489)GGT>AGT	p.G163S	ABCC3_uc002isk.3_Missense_Mutation_p.G163S	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	163	Extracellular (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCCACCCAGGGTGAGATCTC	0.607													A	48735443	G	A	48735443	3	1	262	1	0	0	0	0	1	0	0	0	54	1246	43	4	505	4	ABCC3	17	48735443	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	2977992	48735443	32459767	102	129407											
CDH2	1000	broad.mit.edu	37	chr18	25727654	25727654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccattgagaagaggctgtCcttcatgcacatccttcgat	8	11	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr18:25727654C>T	uc002kwg.2	-	2	614	c.155G>A	c.(154-156)GGA>GAA	p.G52E		NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	52					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			ovary(3)|lung(1)	4						AAGAGGCTGTCCTTCATGCAC	0.398													T	25727654	C	T	25727654	3	4	262	1	0	0	0	0	1	0	0	0	3105	855	30	4	2625	4	CDH2	18	25727654	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		25727654	52349594	103	129408											
SERPINB3	6317	broad.mit.edu	37	chr18	61322928	61322928	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatagaagaggatgctgTtggtcttattttgccttatg	11	6	1	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr18:61322928T>G	uc002lji.2	-	8	1280	c.1136A>C	c.(1135-1137)AAC>ACC	p.N379T	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.N327T	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	379					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAGGATGCTGTTGGTCTTATT	0.418													G	61322928	T	G	61322928	3	3	262	1	0	0	0	0	1	0	0	0	14102	1725	60	5	40	5	SERPINB3	18	61322928	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	35595274	61322928	16754320	104	129409											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582775	15582775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgttggctgcgcagcgCgtgaagtccgtgcagggtgg	18	10	0	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:15582775C>T	uc002nbf.3	-	3	1402	c.1269G>A	c.(1267-1269)ACG>ACA	p.T423T	PGLYRP2_uc002nbg.3_Silent_p.T423T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	423					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			ovary(3)	3						CTGCGCAGCGCGTGAAGTCCG	0.672													T	15582775	C	T	15582775	2	4	262	1	0	0	0	0	0	0	0	1	11794	755	27	1		1	PGLYRP2	19	15582775	Silent	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		15582775	43546208	105	129410											
ZNF536	9745	broad.mit.edu	37	chr19	31039370	31039370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccccccttccatgaaAgtccacggagtggatggtgg	13	12	0	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:31039370A>G	uc002nsu.1	+	4	2982	c.2844A>G	c.(2842-2844)AAA>AAG	p.K948K	ZNF536_uc010edd.1_Silent_p.K948K	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CTTCCATGAAAGTCCACGGAG	0.532													G	31039370	A	G	31039370	2	3	262	1	0	0	0	0	0	0	0	1	17971	69	3	3		3	ZNF536	19	31039370	Silent	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	15456595	31039370	28089613	106	129411											
RAB4B	53916	broad.mit.edu	37	chr19	41289827	41289827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcccttctccacagcCgggagacatacaactcactg	6	17	3	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:41289827C>T	uc002opd.1	+	5	387	c.277C>T	c.(277-279)CGG>TGG	p.R93W	RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.R119W	NM_016154	NP_057238	P61018	RAB4B_HUMAN	ras-related GTP-binding protein 4b	93					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTCCACAGCCGGGAGACATA	0.632													T	41289827	C	T	41289827	3	4	262	1	0	0	0	0	1	0	0	0	12947	666	23	1	295	1	RAB4B	19	41289827	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	10250457	41289827	17839156	107	129412											
AXL	558	broad.mit.edu	37	chr19	41726556	41726556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcacgcaggctgaagAaagtcccttcgtgggcaacc	12	13	0	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:41726556A>G	uc010ehj.2	+	2	291	c.101A>G	c.(100-102)GAA>GGA	p.E34G	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.E34G|AXL_uc010ehk.2_Missense_Mutation_p.E34G	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	34	Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CAGGCTGAAGAAAGTCCCTTC	0.637													G	41726556	A	G	41726556	3	3	262	1	0	0	0	0	1	0	0	0	1238	246	9	3	107	3	AXL	19	41726556	Missense_Mutation	SNP	A	TCGA-HU-A4G3-01A-11D-A24D-08	436729	41726556	17402427	108	129413											
FBXO46	23403	broad.mit.edu	37	chr19	46215709	46215709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggcggagggggcgccgGgggagtgtcctcaggcctgg	24	9	1	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:46215709G>A	uc002pcy.2	-	2	1170	c.1045C>T	c.(1045-1047)CCG>TCG	p.P349S	FBXO46_uc002pcz.2_Missense_Mutation_p.P349S	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	349							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		GGGGGCGCCGGGGGAGTGTCC	0.697													A	46215709	G	A	46215709	3	1	262	1	0	0	0	0	1	0	0	0	5755	1232	43	4	770	4	FBXO46	19	46215709	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	4489153	46215709	12913274	109	129414											
PNKP	11284	broad.mit.edu	37	chr19	50367302	50367302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcttcccgcgcccgatGctcatctggttggtgaagat	13	12	2	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:50367302G>A	uc002pqh.2	-	6	715	c.663C>T	c.(661-663)AGC>AGT	p.S221S	PNKP_uc002pqg.2_Silent_p.S2S|PNKP_uc002pqi.2_Silent_p.S182S|PNKP_uc002pqj.2_Silent_p.S221S|PNKP_uc010enm.2_Silent_p.S221S|PNKP_uc002pqk.2_Silent_p.S221S	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	221					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			ovary(1)|kidney(1)	2		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)		CGCGCCCGATGCTCATCTGGT	0.642								Other_BER_factors					A	50367302	G	A	50367302	2	1	262	1	0	0	0	0	0	0	0	1	12147	1310	46	2		2	PNKP	19	50367302	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	4151593	50367302	8761681	110	129415											
MYH14	79784	broad.mit.edu	37	chr19	50753938	50753938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtgttctccactacgCgggcaaggtaggggctgggg	16	10	2	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:50753938C>T	uc002prr.1	+	14	1846	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	MYH14_uc010enu.1_Missense_Mutation_p.A608V|MYH14_uc002prq.1_Missense_Mutation_p.A608V	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	600	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTCCACTACGCGGGCAAGGTA	0.647													T	50753938	C	T	50753938	3	4	262	1	0	0	0	0	1	0	0	0	10033	768	27	1	1877	1	MYH14	19	50753938	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	386636	50753938	8375045	111	129416											
FPR2	2358	broad.mit.edu	37	chr19	52272221	52272221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtaagttaattcacatcGtggtggacatcaacctcttt	8	8	3	0	rs117415514	by1000genomes	TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:52272221G>A	uc002pxr.2	+	2	355	c.310G>A	c.(310-312)GTG>ATG	p.V104M	FPR2_uc002pxs.3_Missense_Mutation_p.V104M|FPR2_uc010epf.2_Missense_Mutation_p.V104M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	104	Helical; Name=3; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						AATTCACATCGTGGTGGACAT	0.483													A	52272221	G	A	52272221	3	1	262	1	0	0	0	0	1	0	0	0	6039	1145	40	1	312	1	FPR2	19	52272221	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	1518283	52272221	6856762	112	129417											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701542	56701542	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agagatcacattgaaagggtCtgtctcctgtgtgtgacctc	11	9	3	3			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr19:56701542C>A	uc010ygh.1	-	4	1142	c.1142G>T	c.(1141-1143)AGA>ATA	p.R381I		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	381					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TTGAAAGGGTCTGTCTCCTGT	0.532													A	56701542	C	A	56701542	3	1	262	1	0	0	0	0	1	0	0	0	18236	913	32	5	349	5	ZSCAN5B	19	56701542	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08	4429321	56701542	2427441	113	129418											
COL6A2	1292	broad.mit.edu	37	chr21	47531946	47531946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggacacctcggagagcGtcaccatgcagtcccccacg	11	16	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr21:47531946G>A	uc002zia.1	+	3	251	c.169G>A	c.(169-171)GTC>ATC	p.V57I	COL6A2_uc002zhy.1_Missense_Mutation_p.V57I|COL6A2_uc002zhz.1_Missense_Mutation_p.V57I|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	57	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTCGGAGAGCGTCACCATGCA	0.602													A	47531946	G	A	47531946	3	1	262	1	0	0	0	0	1	0	0	0	3700	1145	40	1	175	1	COL6A2	21	47531946	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08		47531946	597949	114	129419											
AP1B1	162	broad.mit.edu	37	chr22	29727456	29727456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatcttcccgtcctccaCaaagaggatgtgcagtgggt	10	13	1	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chr22:29727456C>T	uc003afj.2	-	19	2690	c.2506G>A	c.(2506-2508)GTG>ATG	p.V836M	AP1B1_uc003afi.2_Missense_Mutation_p.V829M|AP1B1_uc003afk.2_Missense_Mutation_p.V829M|AP1B1_uc003afl.2_Missense_Mutation_p.V809M|AP1B1_uc003afh.2_Missense_Mutation_p.V33M|AP1B1_uc011ako.1_Missense_Mutation_p.V389M	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	836					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			ovary(1)|skin(1)	2						CCGTCCTCCACAAAGAGGATG	0.582													T	29727456	C	T	29727456	3	4	262	1	0	0	0	0	1	0	0	0	731	478	17	4	363	4	AP1B1	22	29727456	Missense_Mutation	SNP	C	TCGA-HU-A4G3-01A-11D-A24D-08		29727456	21577110	115	129420											
NAP1L3	4675	broad.mit.edu	37	chrX	92927365	92927365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaaacaatcagccaataGtcaggaatgcctttagggtc	8	8	2	0			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chrX:92927365G>A	uc004efq.2	-	1	1244	c.939C>T	c.(937-939)GAC>GAT	p.D313D	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	313					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TCAGCCAATAGTCAGGAATGC	0.423													A	92927365	G	A	92927365	2	1	262	1	0	0	0	0	0	0	0	1	10158	1020	36	4		4	NAP1L3	23	92927365	Silent	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08		92927365	62343195	116	129421											
SAGE1	55511	broad.mit.edu	37	chrX	134983755	134983755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaatctggttgcaacagGgcatcaaagcaaaaagaaac	9	7	2	1			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chrX:134983755G>A	uc004ezh.2	+	3	292	c.125G>A	c.(124-126)GGG>GAG	p.G42E	SAGE1_uc010nry.1_Missense_Mutation_p.G42E|SAGE1_uc011mvv.1_Missense_Mutation_p.G42E	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	42										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GTTGCAACAGGGCATCAAAGC	0.398													A	134983755	G	A	134983755	3	1	262	1	0	0	0	0	1	0	0	0	13809	1232	43	4	131	4	SAGE1	23	134983755	Missense_Mutation	SNP	G	TCGA-HU-A4G3-01A-11D-A24D-08	42056390	134983755	20286805	117	129422											
MAGEC1	9947	broad.mit.edu	37	chrX	140993377	140993377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttctgagggggaggacTcctcggatcctctccagaga	14	11	2	2			TCGA-HU-A4G3-01A-11D-A24D-08	TCGA-HU-A4G3-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d83776d-2358-427a-bc55-0ae429559d41	bbf11eb7-0258-4973-be54-d8dd4e11baf1	g.chrX:140993377T>C	uc004fbt.2	+	4	473	c.187T>C	c.(187-189)TCC>CCC	p.S63P	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	63							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGAGGACTCCTCGGATCC	0.597										HNSCC(15;0.026)			C	140993377	T	C	140993377	3	2	262	1	0	0	0	0	1	0	0	0	9180	1551	54	3	193	3	MAGEC1	23	140993377	Missense_Mutation	SNP	T	TCGA-HU-A4G3-01A-11D-A24D-08	6009622	140993377	14277183	118	129423											
ARID1A	8289	broad.mit.edu	37	chr1	27100852	27100852	+	Frame_Shift_Del	DEL	C	C	-													ccaatggatggcacatatggCcctcctgccaagcggcacga							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:27100852delC	uc001bmv.1	+	18	4507	c.4134delC	c.(4132-4134)GGCfs	p.G1378fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.G1377fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.G995fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G224fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1378	Gln-rich.				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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		GCACATATGGCCCTCCTGCCA	0.587			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								-	27100852	C	-	27100852	7	5	263	1	0	1	0	1	0	0	0	0	913	726	26	0	4204	0	ARID1A	1	27100852	Frame_Shift_Del	DEL	C	TCGA-HU-A4G6-01A-11D-A24D-08		27100852	222149769	1	129424											
ELTD1	64123	broad.mit.edu	37	chr1	79404922	79404922	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatacagacattatctaaaTggcagtttgcattcacattt	5	8	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:79404922T>A	uc001diq.3	-	4	503	c.347A>T	c.(346-348)CAT>CTT	p.H116L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	116	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATTATCTAAATGGCAGTTTGC	0.249													A	79404922	T	A	79404922	3	1	263	1	0	0	0	0	1	0	0	0	5084	1464	51	5	1773	5	ELTD1	1	79404922	Missense_Mutation	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	52304070	79404922	169845699	2	129425											
CELSR2	1952	broad.mit.edu	37	chr1	109811770	109811770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgcaggccccggagagGcccaggagccagaggagctg	18	14	0	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:109811770G>A	uc001dxa.3	+	20	6731	c.6670G>A	c.(6670-6672)GCC>ACC	p.A2224T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2224	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		CCCCGGAGAGGCCCAGGAGCC	0.692													A	109811770	G	A	109811770	3	1	263	1	0	0	0	0	1	0	0	0	3222	1203	42	2	6748	2	CELSR2	1	109811770	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	30406848	109811770	139438851	3	129426											
KCNA10	3744	broad.mit.edu	37	chr1	111059876	111059876	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaagccctggactgatcAtttcctagacttctctgtgg	9	11	2	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:111059876A>C	uc001dzt.1	-	1	1922	c.1534T>G	c.(1534-1536)TGA>GGA	p.*512G		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	512						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		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)		TGGACTGATCATTTCCTAGAC	0.303													C	111059876	A	C	111059876	4	2	263	1	0	0	0	0	0	0	0	0	8002	230	8	5	5	5	KCNA10	1	111059876	Nonstop_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08	1248106	111059876	138190745	4	129427											
FAM46C	54855	broad.mit.edu	37	chr1	118165775	118165775	+	Frame_Shift_Del	DEL	C	C	-													aaagacctggacctaatcttCcatgtggctcttccaacaga							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:118165775delC	uc001ehe.2	+	2	484	c.285delC	c.(283-285)TTCfs	p.F95fs		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	95											0	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)		ACCTAATCTTCCATGTGGCTC	0.517										Multiple Myeloma(3;1.13e-06)			-	118165775	C	-	118165775	7	5	263	1	0	1	0	1	0	0	0	0	5567	854	30	0	287	0	FAM46C	1	118165775	Frame_Shift_Del	DEL	C	TCGA-HU-A4G6-01A-11D-A24D-08	7105899	118165775	131084846	5	129428											
SPTA1	6708	broad.mit.edu	37	chr1	158618325	158618325	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggggtacgaggtcccTttcaaagccctcatgccgtc	10	15	2	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:158618325T>G	uc001fst.1	-	26	3887	c.3688A>C	c.(3688-3690)AGG>CGG	p.R1230R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1230	Spectrin 12.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACGAGGTCCCTTTCAAAGCCC	0.502													G	158618325	T	G	158618325	2	3	263	1	0	0	0	0	0	0	0	1	15115	1608	56	5		5	SPTA1	1	158618325	Silent	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	40452550	158618325	90632296	6	129429											
NFASC	23114	broad.mit.edu	37	chr1	204923461	204923461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaatatcagtgcttcgccCgcaacaaatttggcacggcc	11	12	1	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:204923461C>T	uc001hbj.2	+	6	689	c.361C>T	c.(361-363)CGC>TGC	p.R121C	NFASC_uc001hbh.2_Missense_Mutation_p.R121C|NFASC_uc010pqz.1_Missense_Mutation_p.R115C|NFASC_uc010pra.1_Missense_Mutation_p.R115C|NFASC_uc001hbi.2_Missense_Mutation_p.R115C|NFASC_uc009xbg.1_Missense_Mutation_p.R188C|NFASC_uc010prb.1_Missense_Mutation_p.R115C|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	121	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GTGCTTCGCCCGCAACAAATT	0.607													T	204923461	C	T	204923461	3	4	263	1	0	0	0	0	1	0	0	0	10359	652	23	1	375	1	NFASC	1	204923461	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	46305136	204923461	44327160	7	129430											
HEATR1	55127	broad.mit.edu	37	chr1	236730052	236730052	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtgtatcaacaagtTgaacaaggatgggcaggcgc	12	10	1	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:236730052T>G	uc001hyd.1	-	30	4327	c.4202A>C	c.(4201-4203)CAA>CCA	p.Q1401P	HEATR1_uc009xgh.1_Missense_Mutation_p.Q563P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1401					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCAACAAGTTGAACAAGGAT	0.473													G	236730052	T	G	236730052	3	3	263	1	0	0	0	0	1	0	0	0	7027	1812	63	5	2296	5	HEATR1	1	236730052	Missense_Mutation	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	31806591	236730052	12520569	8	129431											
NLRP3	114548	broad.mit.edu	37	chr1	247588491	247588491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtacgtttcctctttggCctggtaaaccaggagaggac	12	9	1	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr1:247588491C>T	uc001icr.2	+	5	1884	c.1746C>T	c.(1744-1746)GGC>GGT	p.G582G	NLRP3_uc001ics.2_Silent_p.G582G|NLRP3_uc001icu.2_Silent_p.G582G|NLRP3_uc001icw.2_Silent_p.G582G|NLRP3_uc001icv.2_Silent_p.G582G|NLRP3_uc010pyw.1_Silent_p.G580G|NLRP3_uc001ict.1_Silent_p.G580G	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	582					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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			TCCTCTTTGGCCTGGTAAACC	0.448													T	247588491	C	T	247588491	2	4	263	1	0	0	0	0	0	0	0	1	10478	726	26	2		2	NLRP3	1	247588491	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	10858439	247588491	1662130	9	129432											
MBOAT2	129642	broad.mit.edu	37	chr2	9008633	9008633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgagctgctccattttcGtcataccctctgaaaccaaa	6	14	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:9008633G>A	uc002qzg.1	-	9	1063	c.930C>T	c.(928-930)GAC>GAT	p.D310D	MBOAT2_uc010yix.1_Silent_p.D310D	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	310					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCCATTTTCGTCATACCCTC	0.333													A	9008633	G	A	9008633	2	1	263	1	0	0	0	0	0	0	0	1	9357	1136	40	1		1	MBOAT2	2	9008633	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08		9008633	234190740	10	129433											
DDX1	1653	broad.mit.edu	37	chr2	15742674	15742674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttctcaaatccagcaAttgggtcagatggtctttgt	8	8	4	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:15742674A>G	uc002rce.2	+	7	598	c.310A>G	c.(310-312)ATT>GTT	p.I104V	DDX1_uc010yjq.1_Missense_Mutation_p.I12V	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	104	B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				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			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	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)		AAATCCAGCAATTGGGTCAGA	0.393													G	15742674	A	G	15742674	3	3	263	1	0	0	0	0	1	0	0	0	4341	101	4	3	336	3	DDX1	2	15742674	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08	6734041	15742674	227456699	11	129434											
CRIM1	51232	broad.mit.edu	37	chr2	36749368	36749368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcatctgcattgatagCgtaattagctgtttctctga	9	8	2	2	rs142923562	by1000genomes	TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:36749368C>T	uc002rpd.2	+	13	2379	c.2340C>T	c.(2338-2340)AGC>AGT	p.S780S		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	780	Extracellular (Potential).|VWFC 5.				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			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCATTGATAGCGTAATTAGCT	0.468													T	36749368	C	T	36749368	2	4	263	1	0	0	0	0	0	0	0	1	3873	767	27	1		1	CRIM1	2	36749368	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	21006694	36749368	206450005	12	129435											
VWA3B	200403	broad.mit.edu	37	chr2	98804462	98804462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacaagaagacagtccatGcaaaatattgcagcaggttt	9	8	0	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:98804462G>A	uc002syo.2	+	10	1600	c.1336G>A	c.(1336-1338)GCA>ACA	p.A446T	VWA3B_uc010yvh.1_Missense_Mutation_p.A296T|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.A446T|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.A103T	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	446								p.A446A(1)		ovary(3)|large_intestine(2)|skin(1)	6						GACAGTCCATGCAAAATATTG	0.478													A	98804462	G	A	98804462	3	1	263	1	0	0	0	0	1	0	0	0	17238	1319	46	2	1370	2	VWA3B	2	98804462	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	62055094	98804462	144394911	13	129436											
NPHP1	4867	broad.mit.edu	37	chr2	110881384	110881384	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgtcacactgcattctttCtcatttcacccaagaagtca	4	13	5	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:110881384C>T	uc002tfn.3	-	20	2277	c.2183G>A	c.(2182-2184)AGA>AAA	p.R728K	NPHP1_uc002tfm.3_Missense_Mutation_p.R673K|NPHP1_uc002tfl.3_Missense_Mutation_p.R729K|NPHP1_uc002tfo.3_Missense_Mutation_p.R610K|NPHP1_uc010ywx.1_Missense_Mutation_p.R672K	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	728					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			ovary(2)	2						TGCATTCTTTCTCATTTCACC	0.483													T	110881384	C	T	110881384	3	4	263	1	0	0	0	0	1	0	0	0	10579	913	32	4	19	4	NPHP1	2	110881384	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	12076922	110881384	132317989	14	129437											
SCN9A	6335	broad.mit.edu	37	chr2	167055493	167055493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacatcctcttgtttccGttttagtgtggttgtgatgg	11	7	1	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:167055493G>A	uc010fpl.2	-	27	5964	c.5623C>T	c.(5623-5625)CGG>TGG	p.R1875W	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTGTTTCCGTTTTAGTGTG	0.403													A	167055493	G	A	167055493	3	1	263	1	0	0	0	0	1	0	0	0	13925	1144	40	1	314	1	SCN9A	2	167055493	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	56174109	167055493	76143880	15	129438											
TLK1	9874	broad.mit.edu	37	chr2	171854267	171854267	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgactccaaccgaccaTacatcaaccttgttggaaat	6	11	1	2	rs149221901		TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:171854267T>C	uc002ugn.2	-	19	2443	c.1971A>G	c.(1969-1971)GTA>GTG	p.V657V	TLK1_uc002ugo.2_Silent_p.V678V|TLK1_uc002ugp.2_Silent_p.V609V|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Silent_p.V561V	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	657	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			central_nervous_system(1)	1						CAACCGACCATACATCAACCT	0.368													C	171854267	T	C	171854267	2	2	263	1	0	0	0	0	0	0	0	1	15940	1393	49	3		3	TLK1	2	171854267	Silent	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	4798774	171854267	71345106	16	129439											
WIPF1	7456	broad.mit.edu	37	chr2	175432646	175432646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgatggtggaggtggggGaggtgccccagcactgggcc	20	8	0	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:175432646G>A	uc002uiy.2	-	7	1617	c.1285C>T	c.(1285-1287)CCC>TCC	p.P429S	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.P429S|WIPF1_uc010fqt.1_Missense_Mutation_p.P429S|WIPF1_uc002uiz.2_Missense_Mutation_p.P429S|WIPF1_uc002ujb.1_Missense_Mutation_p.P429S	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	429	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GGAGGTGGGGGAGGTGCCCCA	0.587													A	175432646	G	A	175432646	3	1	263	1	0	0	0	0	1	0	0	0	17364	1174	41	4	238	4	WIPF1	2	175432646	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	3578379	175432646	67766727	17	129440											
HOXD9	3235	broad.mit.edu	37	chr2	176987764	176987764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcccagcccccggcagcgGcggcgatgagcggcctctac	13	19	1	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:176987764G>T	uc010zex.1	+	1	352	c.268G>T	c.(268-270)GCG>TCG	p.A90S		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	90						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCCGGCAGCGGCGGCGATGAG	0.741													T	176987764	G	T	176987764	3	4	263	1	0	0	0	0	1	0	0	0	7326	1203	42	5	270	5	HOXD9	2	176987764	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	1555118	176987764	66211609	18	129441											
TTC30B	150737	broad.mit.edu	37	chr2	178417162	178417162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggacccggctgtggtaGgcggggttatccaggagaag	19	8	0	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:178417162G>A	uc002uln.2	-	1	363	c.330C>T	c.(328-330)GCC>GCT	p.A110A	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	110					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GGCTGTGGTAGGCGGGGTTAT	0.637													A	178417162	G	A	178417162	2	1	263	1	0	0	0	0	0	0	0	1	16696	987	35	4		4	TTC30B	2	178417162	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	1429398	178417162	64782211	19	129442											
TTN	7273	broad.mit.edu	37	chr2	179393870	179393870	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttttgggaaatttcctcttgGacaacagctttcttctgagg	9	8	3	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr2:179393870G>C	uc010zfg.1	-	309	99128	c.98904C>G	c.(98902-98904)GTC>GTG	p.V32968V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V26663V|TTN_uc010zfi.1_Silent_p.V26596V|TTN_uc010zfj.1_Silent_p.V26471V|TTN_uc002umq.2_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33895							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCTCTTGGACAACAGCTT	0.388													C	179393870	G	C	179393870	2	2	263	1	0	0	0	0	0	0	0	1	16732	1161	41	5		5	TTN	2	179393870	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	976708	179393870	63805503	20	129443											
GLB1	2720	broad.mit.edu	37	chr3	33055719	33055719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccccccaggtggctGcacactgcatcctcagtgtc	9	19	1	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr3:33055719G>A	uc003cfi.1	-	15	1680	c.1563C>T	c.(1561-1563)CGC>CGT	p.R521R	GLB1_uc003cfh.1_Silent_p.R491R|GLB1_uc003cfj.1_Silent_p.R390R|GLB1_uc011axk.1_Silent_p.C569C	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	521					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				CCAGGTGGCTGCACACTGCAT	0.552													A	33055719	G	A	33055719	2	1	263	1	0	0	0	0	0	0	0	1	6427	1311	46	2		2	GLB1	3	33055719	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08		33055719	164966711	21	129444											
CTNNB1	1499	broad.mit.edu	37	chr3	41266103	41266103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtcttacctggactctGgaatccattctggtgccact	8	12	3	0	rs121913399		TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr3:41266103G>A	uc010hia.1	+	4	256	c.100G>A	c.(100-102)GGA>AGA	p.G34R	CTNNB1_uc003ckp.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34R|CTNNB1_uc011azf.1_Missense_Mutation_p.G27R|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).		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.G34V(64)|p.G34E(64)|p.A5_A80del(63)|p.G34R(60)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CCTGGACTCTGGAATCCATTC	0.488		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				A	41266103	G	A	41266103	3	1	263	1	0	0	0	0	1	0	0	0	4016	1349	47	4	106	4	CTNNB1	3	41266103	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	8210384	41266103	156756327	22	129445											
SEMA5B	54437	broad.mit.edu	37	chr3	122630821	122630821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgtttccagcacaggCgctggaccctgggaggagct	15	12	0	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr3:122630821C>T	uc003efz.1	-	20	3296	c.2992G>A	c.(2992-2994)GCC>ACC	p.A998T	SEMA5B_uc011bju.1_Missense_Mutation_p.A904T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A998T|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	998	Extracellular (Potential).|TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CCAGCACAGGCGCTGGACCCT	0.667													T	122630821	C	T	122630821	3	4	263	1	0	0	0	0	1	0	0	0	14038	768	27	1	479	1	SEMA5B	3	122630821	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	81364718	122630821	75391609	23	129446											
FAT4	79633	broad.mit.edu	37	chr4	126239828	126239828	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatggccctagacagagaAgaaaaaacagcttatcagtt	9	7	1	4			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr4:126239828A>C	uc003ifj.3	+	1	2262	c.2262A>C	c.(2260-2262)GAA>GAC	p.E754D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	754	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TAGACAGAGAAGAAAAAACAG	0.428													C	126239828	A	C	126239828	3	2	263	1	0	0	0	0	1	0	0	0	5692	69	3	5	2264	5	FAT4	4	126239828	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08		126239828	64914448	24	129447											
C4orf29	80167	broad.mit.edu	37	chr4	128951826	128951826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaacaaggactcttcAggtaagacggctggtctaaa	9	7	3	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr4:128951826A>G	uc003ifr.2	+	12	1558	c.1240A>G	c.(1240-1242)AGG>GGG	p.R414G	C4orf29_uc003ifs.2_Missense_Mutation_p.R342G|C4orf29_uc003ift.2_Missense_Mutation_p.R279G|C4orf29_uc003ifu.2_Missense_Mutation_p.R279G|C4orf29_uc010inz.2_Missense_Mutation_p.R245G|C4orf29_uc003ifv.2_Missense_Mutation_p.R279G	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN	hypothetical protein LOC80167 precursor	414						extracellular region				ovary(1)	1						AGGACTCTTCAGGTAAGACGG	0.348													G	128951826	A	G	128951826	3	3	263	1	0	0	0	0	1	0	0	0	2259	179	7	3	1278	3	C4orf29	4	128951826	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08	2711998	128951826	62202450	25	129448											
F11	2160	broad.mit.edu	37	chr4	187209681	187209681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcacgagctggggcgaAggctgtgctcaaagggagcg	18	9	2	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr4:187209681A>G	uc003iza.1	+	15	2124	c.1791A>G	c.(1789-1791)GAA>GAG	p.E597E	uc003izb.1_RNA	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	597	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCTGGGGCGAAGGCTGTGCTC	0.557													G	187209681	A	G	187209681	2	3	263	1	0	0	0	0	0	0	0	1	5337	69	3	3		3	F11	4	187209681	Silent	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08	58257855	187209681	3944595	26	129449											
ADRB2	154	broad.mit.edu	37	chr5	148207465	148207465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaatggctactccagcaaCggcaacacaggggagcagag	15	10	0	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr5:148207465C>T	uc003lpr.1	+	1	1310	c.1071C>T	c.(1069-1071)AAC>AAT	p.N357N	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	357	Cytoplasmic.				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			ovary(1)	1			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)	ACTCCAGCAACGGCAACACAG	0.527													T	148207465	C	T	148207465	2	4	263	1	0	0	0	0	0	0	0	1	341	535	19	1		1	ADRB2	5	148207465	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		148207465	32707795	27	129450											
MYOZ3	91977	broad.mit.edu	37	chr5	150050196	150050196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttagcagccagccagcGggcggtgagtaagccaccat	14	12	0	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr5:150050196G>A	uc003lss.2	+	3	799	c.212G>A	c.(211-213)CGG>CAG	p.R71Q	MYOZ3_uc003lsr.2_Missense_Mutation_p.R71Q	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	myozenin 3	71	Binding to FLNC.					sarcomere	protein binding			skin(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAGCCAGCGGGCGGTGAGT	0.383													A	150050196	G	A	150050196	3	1	263	1	0	0	0	0	1	0	0	0	10097	1116	39	1	218	1	MYOZ3	5	150050196	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	1842731	150050196	30865064	28	129451											
FAM153A	285596	broad.mit.edu	37	chr5	177156542	177156542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcacatgctcctccaGgtcttccaggtcacctagga	9	15	3	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr5:177156542G>T	uc010jkp.1	-	18	1067	c.646C>A	c.(646-648)CTG>ATG	p.L216M	FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Missense_Mutation_p.L216M	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	hypothetical protein LOC285596	216										skin(1)	1	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)			TGCTCCTCCAGGTCTTCCAGG	0.512													T	177156542	G	T	177156542	3	4	263	1	0	0	0	0	1	0	0	0	5460	991	35	5	306	5	FAM153A	5	177156542	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	27106346	177156542	3758718	29	129452											
DOM3Z	1797	broad.mit.edu	37	chr6	31938556	31938579	+	In_Frame_Del	DEL	GTTGGTGTTAACCTCCCCAGAGGG	GTTGGTGTTAACCTCCCCAGAGGG	-													agcacagagcagaaggccacGttggtgttaacctccccaga							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr6:31938555_31938578CGTTGGTGTTAACCTCCCCAGAGGG>C	uc003nyp.1	-	3	950_973	c.617_640CCCTCTGGGGAGGTTAACACCAACG>G	c.(616-642)ccctctggggaggttaacaccaacgtg>cGtg	p.206_214PSGEVNTNV>R	DOM3Z_uc003nyq.1_Intron|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	206							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						CAGAAGGCCACGTTGGTGTTAACCTCCCCAGAGGGGTCTGGGGA	0.625													-	31938579	GTTGGTGTTAACCTCCCCAGAGGG	-	31938556	7	5	263	1	0	1	0	1	0	0	0	0	4705	1136	40	0	567	0	DOM3Z	6	31938556	In_Frame_Del	DEL	GTTGGTGTTAACCTCCCCAGAGGG	TCGA-HU-A4G6-01A-11D-A24D-08		31938556	139176511	30	129453											
DDX43	55510	broad.mit.edu	37	chr6	74110065	74110065	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaagctagaagaaaatTacaattcagaatgcggaatt	7	4	1	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr6:74110065T>G	uc003pgw.2	+	3	759	c.415T>G	c.(415-417)TAC>GAC	p.Y139D	DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	139						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						AGAAGAAAATTACAATTCAGA	0.323													G	74110065	T	G	74110065	3	3	263	1	0	0	0	0	1	0	0	0	4363	1754	61	5	425	5	DDX43	6	74110065	Missense_Mutation	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	42171509	74110065	97005002	31	129454											
C6orf165	154313	broad.mit.edu	37	chr6	88119576	88119576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgcctccaactcaggccGaaagtgttataaggagtatt	10	8	1	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr6:88119576G>A	uc003plv.2	+	2	111	c.19G>A	c.(19-21)GAA>AAA	p.E7K	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.E7K	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	7										central_nervous_system(1)	1		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													A	88119576	G	A	88119576	3	1	263	1	0	0	0	0	1	0	0	0	2341	1059	37	1	21	1	C6orf165	6	88119576	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	14009511	88119576	82995491	32	129455											
IYD	389434	broad.mit.edu	37	chr6	150710675	150710675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgataatgtcatcagaacGgcaggtttgtaattgcagat	10	5	2	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr6:150710675G>A	uc003qnu.1	+	2	506	c.366G>A	c.(364-366)ACG>ACA	p.T122T	IYD_uc003qnv.1_Silent_p.T122T|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Silent_p.T122T|IYD_uc010kik.1_Intron	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	122	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TCATCAGAACGGCAGGTTTGT	0.388													A	150710675	G	A	150710675	2	1	263	1	0	0	0	0	0	0	0	1	7932	1103	39	1		1	IYD	6	150710675	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	62591099	150710675	20404392	33	129456											
SMOC2	64094	broad.mit.edu	37	chr6	169051410	169051410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccagcgttctggacgcGctgtccacggacatggtcca	12	14	1	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr6:169051410G>A	uc003qws.1	+	10	977	c.957G>A	c.(955-957)GCG>GCA	p.A319A	SMOC2_uc003qwr.1_Silent_p.A330A|SMOC2_uc011egu.1_5'UTR	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	319					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTCTGGACGCGCTGTCCACGG	0.532													A	169051410	G	A	169051410	2	1	263	1	0	0	0	0	0	0	0	1	14802	1074	38	1		1	SMOC2	6	169051410	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	18340735	169051410	2063657	34	129457											
KLHL7	55975	broad.mit.edu	37	chr7	23183596	23183596	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttaagtaaaacggtacaaGctgaaccacttattcaagac	6	9	2	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr7:23183596G>C	uc003svs.3	+	6	1038	c.745G>C	c.(745-747)GCT>CCT	p.A249P	KLHL7_uc003svr.3_Missense_Mutation_p.A227P|KLHL7_uc011jys.1_Missense_Mutation_p.A173P|KLHL7_uc011jyt.1_Missense_Mutation_p.A24P|KLHL7_uc003svt.2_Missense_Mutation_p.A201P|KLHL7_uc011jyv.1_Missense_Mutation_p.A24P	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	249						Golgi apparatus|nucleolus|plasma membrane					0						AACGGTACAAGCTGAACCACT	0.358													C	23183596	G	C	23183596	3	2	263	1	0	0	0	0	1	0	0	0	8394	971	34	5	830	5	KLHL7	7	23183596	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08		23183596	135955067	35	129458											
LRRC17	10234	broad.mit.edu	37	chr7	102584659	102584659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatattttctgtttccagccGcttttttagggctcacacat	6	10	2	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr7:102584659G>A	uc003vau.2	+	4	1320	c.931G>A	c.(931-933)GCT>ACT	p.A311T	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	311	LRR 5.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						GTTTCCAGCCGCTTTTTTAGG	0.274													A	102584659	G	A	102584659	3	1	263	1	0	0	0	0	1	0	0	0	8973	1087	38	1	959	1	LRRC17	7	102584659	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	79401063	102584659	56554004	36	129459											
ST7	7982	broad.mit.edu	37	chr7	116811007	116811007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagcatatgctgatgttcAggcagtcttagcaaagtatg	10	7	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr7:116811007A>C	uc003vin.2	+	10	1269	c.1055A>C	c.(1054-1056)CAG>CCG	p.Q352P	ST7_uc011knl.1_Missense_Mutation_p.Q329P|ST7_uc003vio.2_Missense_Mutation_p.Q329P|ST7_uc003viq.2_Missense_Mutation_p.Q306P|ST7_uc011knm.1_Missense_Mutation_p.Q309P|ST7_uc003vir.2_Missense_Mutation_p.Q277P|ST7_uc011knn.1_Missense_Mutation_p.Q300P|ST7_uc003vix.1_Missense_Mutation_p.Q165P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	352						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCTGATGTTCAGGCAGTCTTA	0.378													C	116811007	A	C	116811007	3	2	263	1	0	0	0	0	1	0	0	0	15228	188	7	5	1093	5	ST7	7	116811007	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08	14226348	116811007	42327656	37	129460											
KIAA1549	57670	broad.mit.edu	37	chr7	138564334	138564334	+	Frame_Shift_Del	DEL	T	T	-													cgttgacggctcccggcgtcTtatctcctgcgtccctctcg							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr7:138564334delT	uc011kql.1	-	12	4344	c.4295delA	c.(4294-4296)AAGfs	p.K1432fs	KIAA1549_uc011kqi.1_Frame_Shift_Del_p.K216fs|KIAA1549_uc003vuk.3_Frame_Shift_Del_p.K1382fs|KIAA1549_uc011kqj.1_Frame_Shift_Del_p.K1432fs|KIAA1549_uc011kqk.1_Frame_Shift_Del_p.K216fs	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1432						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TCCCGGCGTCTTATCTCCTGC	0.517			O	BRAF	pilocytic astrocytoma								-	138564334	T	-	138564334	7	5	263	1	0	1	0	1	0	0	0	0	8244	1609	56	0	1593	0	KIAA1549	7	138564334	Frame_Shift_Del	DEL	T	TCGA-HU-A4G6-01A-11D-A24D-08	21753327	138564334	20574329	38	129461											
C8orf74	203076	broad.mit.edu	37	chr8	10555329	10555329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcccctcccgctggcCgagggcatggacagggactt	12	17	0	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr8:10555329C>T	uc003wtd.1	+	3	491	c.462C>T	c.(460-462)GCC>GCT	p.A154A	C8orf74_uc003wte.1_RNA	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	154											0				COAD - Colon adenocarcinoma(149;0.0811)		TCCCGCTGGCCGAGGGCATGG	0.642													T	10555329	C	T	10555329	2	4	263	1	0	0	0	0	0	0	0	1	2436	639	23	1		1	C8orf74	8	10555329	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		10555329	135808693	39	129462											
MTUS1	57509	broad.mit.edu	37	chr8	17612060	17612060	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcgttttgtctgtgctaatGaccatatcatttgcatccca	6	10	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr8:17612060G>C	uc003wxv.2	-	2	1731	c.1257C>G	c.(1255-1257)GTC>GTG	p.V419V	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.V419V|MTUS1_uc010lsz.2_Silent_p.V419V	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	419						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CTGTGCTAATGACCATATCAT	0.443													C	17612060	G	C	17612060	2	2	263	1	0	0	0	0	0	0	0	1	9965	1277	45	5		5	MTUS1	8	17612060	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	7056731	17612060	128751962	40	129463											
KCNQ3	3786	broad.mit.edu	37	chr8	133192544	133192544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttggtttcccacagcaaCcactggcacagaggcaatca	9	14	1	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr8:133192544C>A	uc003ytj.2	-	4	862	c.637G>T	c.(637-639)GTT>TTT	p.V213F	KCNQ3_uc010mdt.2_Missense_Mutation_p.V213F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	213	Helical; Name=Segment S3; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCACAGCAACCACTGGCACA	0.582													A	133192544	C	A	133192544	3	1	263	1	0	0	0	0	1	0	0	0	8084	507	18	5	2029	5	KCNQ3	8	133192544	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	115580484	133192544	13171478	41	129464											
TLN1	7094	broad.mit.edu	37	chr9	35715063	35715063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagcctcacctccaggCgctgcaccagctttttcttg	7	18	2	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr9:35715063C>T	uc003zxt.2	-	21	3101	c.2747G>A	c.(2746-2748)CGC>CAC	p.R916H		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	916					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCTCCAGGCGCTGCACCAG	0.587													T	35715063	C	T	35715063	3	4	263	1	0	0	0	0	1	0	0	0	15944	768	27	1	5026	1	TLN1	9	35715063	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		35715063	105498368	42	129465											
ZER1	10444	broad.mit.edu	37	chr9	131503885	131503885	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcagttgtcaggagtttcatCtgtgatgttccacagggcac	12	9	3	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr9:131503885C>T	uc004bwa.1	-	11	2099	c.1666G>A	c.(1666-1668)GAT>AAT	p.D556N		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	556	ARM 2.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GGAGTTTCATCTGTGATGTTC	0.582													T	131503885	C	T	131503885	3	4	263	1	0	0	0	0	1	0	0	0	17622	913	32	4	658	4	ZER1	9	131503885	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	95788822	131503885	9709546	43	129466											
NOTCH1	4851	broad.mit.edu	37	chr9	139391079	139391079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgggtggccagccggGtgctgggcaggccctggtag	21	10	0	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr9:139391079G>C	uc004chz.2	-	34	7112	c.7112C>G	c.(7111-7113)ACC>AGC	p.T2371S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2371	Cytoplasmic (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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCAGCCGGGTGCTGGGCAG	0.642			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			C	139391079	G	C	139391079	3	2	263	1	0	0	0	0	1	0	0	0	10547	1261	44	5	559	5	NOTCH1	9	139391079	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	7887194	139391079	1822352	44	129467											
TPRN	286262	broad.mit.edu	37	chr9	140093635	140093635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgctggtcctgcagagtcCctggcttcctcttgggcacc	12	14	1	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr9:140093635C>A	uc004clt.2	-	1	1346	c.1346G>T	c.(1345-1347)GGG>GTG	p.G449V	TPRN_uc004clu.2_Missense_Mutation_p.G449V	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	510					sensory perception of sound	stereocilium					0						CTGCAGAGTCCCTGGCTTCCT	0.677													A	140093635	C	A	140093635	3	1	263	1	0	0	0	0	1	0	0	0	16418	623	22	5	702	5	TPRN	9	140093635	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	702556	140093635	1119796	45	129468											
MYO3A	53904	broad.mit.edu	37	chr10	26385407	26385407	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgaaaataagcctcccAggtaatctaccaggttgagc	9	11	1	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr10:26385407A>T	uc001isn.2	+	16	2020	c.1660A>T	c.(1660-1662)AGG>TGG	p.R554W	MYO3A_uc009xko.1_Missense_Mutation_p.R554W|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.R554W	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	554	Myosin head-like.				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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TAAGCCTCCCAGGTAATCTAC	0.318													T	26385407	A	T	26385407	3	4	263	1	0	0	0	0	1	0	0	0	10076	202	7	5	1714	5	MYO3A	10	26385407	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08		26385407	109149340	46	129469											
DLG5	9231	broad.mit.edu	37	chr10	79579661	79579661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgactcacccacagacGgcctgctagggtatagcggg	14	12	1	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr10:79579661G>A	uc001jzk.2	-	16	3588	c.3518C>T	c.(3517-3519)CCG>CTG	p.P1173L	DLG5_uc001jzi.2_5'UTR|DLG5_uc001jzj.2_Missense_Mutation_p.P588L|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.P777L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1173					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			ovary(5)|breast(3)	8	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)			ACCCACAGACGGCCTGCTAGG	0.652													A	79579661	G	A	79579661	3	1	263	1	0	0	0	0	1	0	0	0	4558	1116	39	1	2309	1	DLG5	10	79579661	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	53194254	79579661	55955086	47	129470											
LIPF	8513	broad.mit.edu	37	chr10	90438326	90438326	+	Frame_Shift_Del	DEL	T	T	-													tccaaaactccccaatcttaTttaccacaaggagattcctt							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr10:90438325_90438325AT>A	uc001kfg.2	+	9	1198	c.1084_1084AT>A	c.(1084-1086)attfs	p.I362fs	LIPF_uc001kfh.2_Frame_Shift_Del_p.I339fs|LIPF_uc010qmt.2_Frame_Shift_Del_p.I372fs|LIPF_uc010qmu.2_Frame_Shift_Del_p.I329fs	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	362					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CCCCAATCTTATTTACCACAA	0.438													-	90438326	T	-	90438326	7	5	263	1	0	1	0	1	0	0	0	0	8822	1493	52	0	1119	0	LIPF	10	90438326	Frame_Shift_Del	DEL	T	TCGA-HU-A4G6-01A-11D-A24D-08	10858665	90438326	45096421	48	129471											
ABCC2	1244	broad.mit.edu	37	chr10	101578969	101578969	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccaaaaaaggagagTttgctaagaatctgaagaca	10	7	1	4			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr10:101578969T>A	uc001kqf.2	+	19	2702	c.2563T>A	c.(2563-2565)TTT>ATT	p.F855I		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	855	Cytoplasmic (By similarity).|ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		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)	AAAAGGAGAGTTTGCTAAGAA	0.448													A	101578969	T	A	101578969	3	1	263	1	0	0	0	0	1	0	0	0	53	1725	60	5	2637	5	ABCC2	10	101578969	Missense_Mutation	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	11140643	101578969	33955778	49	129472											
SORCS3	22986	broad.mit.edu	37	chr10	107007060	107007060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtggagaaaagatattGgcaatgtcatcaagcgagct	12	6	2	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr10:107007060G>T	uc001kyi.1	+	22	3303	c.3076G>T	c.(3076-3078)GGC>TGC	p.G1026C	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1026	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		AAAAGATATTGGCAATGTCAT	0.388													T	107007060	G	T	107007060	3	4	263	1	0	0	0	0	1	0	0	0	14932	1348	47	5	3162	5	SORCS3	10	107007060	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	5428091	107007060	28527687	50	129473											
OR52A5	390054	broad.mit.edu	37	chr11	5153403	5153403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctaaggaaggtattataAgaatggcagccctgagtgtc	12	8	0	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr11:5153403A>G	uc010qyx.1	-	1	470	c.470T>C	c.(469-471)CTT>CCT	p.L157P		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		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)		AGGTATTATAAGAATGGCAGC	0.473													G	5153403	A	G	5153403	3	3	263	1	0	0	0	0	1	0	0	0	11110	72	3	3	483	3	OR52A5	11	5153403	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08		5153403	129853113	51	129474											
C11orf82	220042	broad.mit.edu	37	chr11	82644674	82644674	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaatataattttgaaaataGtcaagactttgttccatgtt	6	4	1	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr11:82644674G>C	uc001ozt.2	+	6	2538	c.2294G>C	c.(2293-2295)AGT>ACT	p.S765T	C11orf82_uc010rsr.1_Missense_Mutation_p.S464T|C11orf82_uc010rss.1_Missense_Mutation_p.S464T|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	765					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						TTTGAAAATAGTCAAGACTTT	0.348													C	82644674	G	C	82644674	3	2	263	1	0	0	0	0	1	0	0	0	1665	1029	36	5	2308	5	C11orf82	11	82644674	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	77491271	82644674	52361842	52	129475											
CNTN5	53942	broad.mit.edu	37	chr11	100170065	100170065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaagtgaaagttggcGtttataacaataaaggagat	10	4	0	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr11:100170065G>A	uc001pga.2	+	20	2896	c.2557G>A	c.(2557-2559)GTT>ATT	p.V853I	CNTN5_uc001pfz.2_Missense_Mutation_p.V853I|CNTN5_uc001pgb.2_Missense_Mutation_p.V779I|CNTN5_uc010ruk.1_Missense_Mutation_p.V124I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	853	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		GAAAGTTGGCGTTTATAACAA	0.368													A	100170065	G	A	100170065	3	1	263	1	0	0	0	0	1	0	0	0	3644	1145	40	1	2627	1	CNTN5	11	100170065	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	17525391	100170065	34836451	53	129476											
CCDC15	80071	broad.mit.edu	37	chr11	124829033	124829033	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatatttaattgaagAagaactaaaggaacagctaa	7	5	1	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr11:124829033A>T	uc001qbm.3	+	3	459	c.200A>T	c.(199-201)GAA>GTA	p.E67V		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	67	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2	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)		TTAATTGAAGAAGAACTAAAG	0.294													T	124829033	A	T	124829033	3	4	263	1	0	0	0	0	1	0	0	0	2784	246	9	5	206	5	CCDC15	11	124829033	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08	24658968	124829033	10177483	54	129477											
CACNA1C	775	broad.mit.edu	37	chr12	2676928	2676928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctccgtgctcagatgCgtccggctgctgaggatttt	13	11	2	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr12:2676928C>T	uc009zdu.1	+	13	2176	c.1863C>T	c.(1861-1863)TGC>TGT	p.C621C	CACNA1C_uc009zdv.1_Silent_p.C618C|CACNA1C_uc001qkb.2_Silent_p.C621C|CACNA1C_uc001qkc.2_Silent_p.C621C|CACNA1C_uc001qke.2_Silent_p.C621C|CACNA1C_uc001qkf.2_Silent_p.C621C|CACNA1C_uc001qjz.2_Silent_p.C621C|CACNA1C_uc001qkd.2_Silent_p.C621C|CACNA1C_uc001qkg.2_Silent_p.C621C|CACNA1C_uc009zdw.1_Silent_p.C621C|CACNA1C_uc001qkh.2_Silent_p.C621C|CACNA1C_uc001qkl.2_Silent_p.C621C|CACNA1C_uc001qkn.2_Silent_p.C621C|CACNA1C_uc001qko.2_Silent_p.C621C|CACNA1C_uc001qkp.2_Silent_p.C621C|CACNA1C_uc001qkr.2_Silent_p.C621C|CACNA1C_uc001qku.2_Silent_p.C621C|CACNA1C_uc001qkq.2_Silent_p.C621C|CACNA1C_uc001qks.2_Silent_p.C621C|CACNA1C_uc001qkt.2_Silent_p.C621C|CACNA1C_uc001qka.1_Silent_p.C156C|CACNA1C_uc001qki.1_Silent_p.C357C|CACNA1C_uc001qkj.1_Silent_p.C357C|CACNA1C_uc001qkk.1_Silent_p.C357C|CACNA1C_uc001qkm.1_Silent_p.C357C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	621	II.|Helical; Name=S4 of repeat II; (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	TGCTCAGATGCGTCCGGCTGC	0.572													T	2676928	C	T	2676928	2	4	263	1	0	0	0	0	0	0	0	1	2540	776	27	1		1	CACNA1C	12	2676928	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		2676928	131174967	55	129478											
FGF6	2251	broad.mit.edu	37	chr12	4554596	4554596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctcgagtccagcagCgtgttgttggcacgggtgcc	14	14	0	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr12:4554596C>T	uc001qmr.1	-	1	185	c.141G>A	c.(139-141)ACG>ACA	p.T47T		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	47					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTCCAGCAGCGTGTTGTTGG	0.652													T	4554596	C	T	4554596	2	4	263	1	0	0	0	0	0	0	0	1	5856	755	27	1		1	FGF6	12	4554596	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	1877668	4554596	129297299	56	129479											
KRT6B	3854	broad.mit.edu	37	chr12	52841341	52841341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagatgttgacttgtccaaCgccttcgccattcagcctgt	8	13	1	2	rs140834481	byFrequency	TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr12:52841341C>A	uc001sak.2	-	8	1489	c.1441G>T	c.(1441-1443)GTT>TTT	p.V481F		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	481	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)		ACTTGTCCAACGCCTTCGCCA	0.567													A	52841341	C	A	52841341	3	1	263	1	0	0	0	0	1	0	0	0	8481	536	19	5	261	5	KRT6B	12	52841341	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	48286745	52841341	81010554	57	129480											
NBEA	26960	broad.mit.edu	37	chr13	36223810	36223810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgtttccttccacagagtCcgctcatgtttaaagatcag	8	10	2	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr13:36223810C>A	uc001uvb.2	+	51	7932	c.7726C>A	c.(7726-7728)CCG>ACG	p.P2576T	NBEA_uc010abi.2_Missense_Mutation_p.P1232T|NBEA_uc010tee.1_Missense_Mutation_p.P369T|NBEA_uc010tef.1_Missense_Mutation_p.P369T|NBEA_uc001uvd.2_Missense_Mutation_p.P154T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2576						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TCCACAGAGTCCGCTCATGTT	0.428													A	36223810	C	A	36223810	3	1	263	1	0	0	0	0	1	0	0	0	10187	855	30	5	7928	5	NBEA	13	36223810	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		36223810	78946068	58	129481											
CCNA1	8900	broad.mit.edu	37	chr13	37014260	37014260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtaccaaccaccaaccaGtttctccttcagtacttgag	5	14	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr13:37014260G>A	uc001uvr.3	+	6	1388	c.1038G>A	c.(1036-1038)CAG>CAA	p.Q346Q	CCNA1_uc010teo.1_Silent_p.Q302Q|CCNA1_uc010abq.2_Silent_p.Q302Q|CCNA1_uc010abp.2_Silent_p.Q302Q|CCNA1_uc001uvs.3_Silent_p.Q345Q|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	346					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			lung(2)|skin(2)|ovary(1)	5		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)		CCACCAACCAGTTTCTCCTTC	0.448													A	37014260	G	A	37014260	2	1	263	1	0	0	0	0	0	0	0	1	2909	1020	36	4		4	CCNA1	13	37014260	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	790450	37014260	78155618	59	129482											
SPERT	220082	broad.mit.edu	37	chr13	46287489	46287489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgccccatgtcccaggCcgacctggagctggactaca	13	15	0	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr13:46287489C>A	uc001van.1	+	3	409	c.329C>A	c.(328-330)GCC>GAC	p.A110D	SPERT_uc001vao.2_Missense_Mutation_p.A74D	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	110						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		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)		ATGTCCCAGGCCGACCTGGAG	0.652													A	46287489	C	A	46287489	3	1	263	1	0	0	0	0	1	0	0	0	15038	739	26	5	339	5	SPERT	13	46287489	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	9273229	46287489	68882389	60	129483											
TMCO3	55002	broad.mit.edu	37	chr13	114202736	114202736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttgtcctggggagccGggcgcgaagagcgggcgtca	17	11	1	1	rs145599687		TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr13:114202736G>A	uc001vtu.3	+	12	2250	c.1889G>A	c.(1888-1890)CGG>CAG	p.R630Q		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	630						integral to membrane	solute:hydrogen antiporter activity				0	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)			CTGGGGAGCCGGGCGCGAAGA	0.647													A	114202736	G	A	114202736	3	1	263	1	0	0	0	0	1	0	0	0	15994	1116	39	1	1931	1	TMCO3	13	114202736	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	67915247	114202736	967142	61	129484											
LRRC16B	90668	broad.mit.edu	37	chr14	24538363	24538363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccccctgatccaggcCggcggactgcccccctgaag	13	18	0	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr14:24538363C>T	uc001wlj.2	+	39	4157	c.4000C>T	c.(4000-4002)CGG>TGG	p.R1334W	LRRC16B_uc001wlk.2_Missense_Mutation_p.R387W|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1334										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TGATCCAGGCCGGCGGACTGC	0.612													T	24538363	C	T	24538363	3	4	263	1	0	0	0	0	1	0	0	0	8972	643	23	1	4154	1	LRRC16B	14	24538363	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		24538363	82811177	62	129485											
RYR3	6263	broad.mit.edu	37	chr15	34102755	34102755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagacctccctcatcGtggctgcactcaagaaaatg	7	15	2	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr15:34102755G>A	uc001zhi.2	+	71	10172	c.10102G>A	c.(10102-10104)GTG>ATG	p.V3368M	RYR3_uc010bar.2_Missense_Mutation_p.V3363M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3368					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CTCCCTCATCGTGGCTGCACT	0.502													A	34102755	G	A	34102755	3	1	263	1	0	0	0	0	1	0	0	0	13770	1145	40	1	10384	1	RYR3	15	34102755	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08		34102755	68428637	63	129486											
AVEN	57099	broad.mit.edu	37	chr15	34158855	34158855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtcttccagctcttcctCggtaacatttttggaggtac	8	12	2	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr15:34158855C>T	uc001zhj.2	-	6	1104	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	350					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		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)		AGCTCTTCCTCGGTAACATTT	0.428													T	34158855	C	T	34158855	3	4	263	1	0	0	0	0	1	0	0	0	1226	893	31	1	44	1	AVEN	15	34158855	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	56100	34158855	68372537	64	129487											
DUOX1	53905	broad.mit.edu	37	chr15	45442866	45442866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatcaaggacctctgccGgcgagcctcctacatcagcc	9	16	4	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr15:45442866G>A	uc001zus.1	+	23	3201	c.2855G>A	c.(2854-2856)CGG>CAG	p.R952Q	DUOX1_uc001zut.1_Missense_Mutation_p.R952Q|DUOX1_uc010bee.1_Missense_Mutation_p.R332Q|DUOX1_uc001zuu.2_Missense_Mutation_p.R94Q	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	952	Cytoplasmic (Potential).				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			ovary(5)|skin(2)|breast(1)	8		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)		GACCTCTGCCGGCGAGCCTCC	0.597													A	45442866	G	A	45442866	3	1	263	1	0	0	0	0	1	0	0	0	4800	1116	39	1	2937	1	DUOX1	15	45442866	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	11284011	45442866	57088526	65	129488											
SEMA6D	80031	broad.mit.edu	37	chr15	48063347	48063347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcaccctctcacaaagTcatccagtaagagagatcac	6	12	4	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr15:48063347T>C	uc010bek.2	+	19	2947	c.2587T>C	c.(2587-2589)TCA>CCA	p.S863P	SEMA6D_uc001zvw.2_Missense_Mutation_p.S801P|SEMA6D_uc001zvy.2_Missense_Mutation_p.S863P|SEMA6D_uc001zvz.2_Missense_Mutation_p.S807P|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.S801P|SEMA6D_uc001zwc.2_Missense_Mutation_p.S788P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	863	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		TCTCACAAAGTCATCCAGTAA	0.428													C	48063347	T	C	48063347	3	2	263	1	0	0	0	0	1	0	0	0	14042	1667	58	3	2700	3	SEMA6D	15	48063347	Missense_Mutation	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	2620481	48063347	54468045	66	129489											
MEF2A	4205	broad.mit.edu	37	chr15	100214776	100214776	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacattacatagaaatgtgtCtcctggagctcctcagagac	8	11	2	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr15:100214776C>T	uc010urw.1	+	5	934	c.575C>T	c.(574-576)TCT>TTT	p.S192F	MEF2A_uc010urv.1_Missense_Mutation_p.S122F|MEF2A_uc010bos.2_Missense_Mutation_p.S190F|MEF2A_uc002bvf.2_Missense_Mutation_p.S192F|MEF2A_uc002bve.2_Missense_Mutation_p.S190F|MEF2A_uc002bvg.2_Missense_Mutation_p.S190F|MEF2A_uc002bvi.2_Missense_Mutation_p.S190F|MEF2A_uc010bot.2_Missense_Mutation_p.S122F	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	192					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|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|positive regulation of muscle cell differentiation|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AGAAATGTGTCTCCTGGAGCT	0.453													T	100214776	C	T	100214776	3	4	263	1	0	0	0	0	1	0	0	0	9455	913	32	4	725	4	MEF2A	15	100214776	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	52151429	100214776	2316616	67	129490											
C16orf11	146325	broad.mit.edu	37	chr16	613320	613320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaggcgggctcatgccGcgtgggcacaggggcgaggg	23	10	1	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr16:613320G>A	uc002chk.2	+	2	305	c.26G>A	c.(25-27)CGC>CAC	p.R9H		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	9										central_nervous_system(1)	1						GGCTCATGCCGCGTGGGCACA	0.662													A	613320	G	A	613320	3	1	263	1	0	0	0	0	1	0	0	0	1810	1087	38	1	28	1	C16orf11	16	613320	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08		613320	89741433	68	129491											
SOX8	30812	broad.mit.edu	37	chr16	1035103	1035103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccactacggcgaccagccccGaggctcgcccgactacggtt	11	18	0	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr16:1035103G>A	uc002ckn.2	+	3	1173	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	353					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				GACCAGCCCCGAGGCTCGCCC	0.647													A	1035103	G	A	1035103	3	1	263	1	0	0	0	0	1	0	0	0	14957	1058	37	1	1068	1	SOX8	16	1035103	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	421783	1035103	89319650	69	129492											
NLRC3	197358	broad.mit.edu	37	chr16	3614583	3614583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccagggcgacggtcctggCggggtgcccgcccccgcggg	19	16	0	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr16:3614583C>A	uc010btn.2	-	5	766	c.355G>T	c.(355-357)GCC>TCC	p.A119S		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	119					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ACGGTCCTGGCGGGGTGCCCG	0.706													A	3614583	C	A	3614583	3	1	263	1	0	0	0	0	1	0	0	0	10468	768	27	5	2907	5	NLRC3	16	3614583	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	2579480	3614583	86740170	70	129493											
NETO2	81831	broad.mit.edu	37	chr16	47143563	47143563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccatcatagactgcaacGaagtttctcttgcattcatt	5	11	3	1	rs139454743		TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr16:47143563G>A	uc002eer.1	-	7	1099	c.714C>T	c.(712-714)TTC>TTT	p.F238F	NETO2_uc002eeq.1_Silent_p.F11F|NETO2_uc010vgf.1_Silent_p.F95F|NETO2_uc002ees.1_Silent_p.F231F	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	238	Extracellular (Potential).|CUB 2.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				AGACTGCAACGAAGTTTCTCT	0.353										HNSCC(25;0.065)			A	47143563	G	A	47143563	2	1	263	1	0	0	0	0	0	0	0	1	10340	1049	37	1		1	NETO2	16	47143563	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	43528980	47143563	43211190	71	129494											
CNGB1	1258	broad.mit.edu	37	chr16	58001053	58001053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggactcggactctgtctcGgcctcctcaggattcggttc	11	13	3	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr16:58001053G>A	uc002emt.2	-	2	203	c.138C>T	c.(136-138)GCC>GCT	p.A46A	CNGB1_uc010cdh.2_Silent_p.A46A|CNGB1_uc002emu.2_Silent_p.A46A	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	46	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ACTCTGTCTCGGCCTCCTCAG	0.627													A	58001053	G	A	58001053	2	1	263	1	0	0	0	0	0	0	0	1	3600	1103	39	1		1	CNGB1	16	58001053	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	10857490	58001053	32353700	72	129495											
AOC3	8639	broad.mit.edu	37	chr17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G													gctttctgacccagcggctgINSgggccagggctggtggatgc							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr17:41003596_41003597T>TG	uc002ibv.3	+	0	396_397	c.236_237T>TG	c.(235-237)ctgfs	p.L79fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	79					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACCCAGCGGCTGGGGCCAGGGC	0.658													G	41003598	-	G	41003597	7	5	263	1	0	1	1	0	0	0	0	0	728	1335	47	0	239	0	AOC3	17	41003597	Frame_Shift_Ins	INS	-	TCGA-HU-A4G6-01A-11D-A24D-08		41003597	40191613	73	129496											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	263	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-HU-A4G6-01A-11D-A24D-08	15382787	56386384	24808826	74	129497											
PRKCA	5578	broad.mit.edu	37	chr17	64683380	64683397	+	Splice_Site	DEL	TACATTGTAAGTGGTCTC	TACATTGTAAGTGGTCTC	-													ccgcagtggaatgagtccttTacattgtaagtggtctctcc							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr17:64683380_64683397delTACATTGTAAGTGGTCTC	uc002jfp.1	+	6	730	c.686_splice	c.e6+1	p.F229_splice	PRKCA_uc002jfo.1_Splice_Site_p.F100_splice	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha						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			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATGAGTCCTTTACATTGTAAGTGGTCTCTCCTTGATCA	0.385													-	64683397	TACATTGTAAGTGGTCTC	-	64683380	8	5	263	1	0	1	0	1	0	0	1	0	12507	1751	61	0	703	0	PRKCA	17	64683380	Splice_Site	DEL	TACATTGTAAGTGGTCTC	TCGA-HU-A4G6-01A-11D-A24D-08	8296996	64683380	16511830	75	129498											
SERPINB2	5055	broad.mit.edu	37	chr18	61565002	61565002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatattactcctcagaaccCcaggcagtagacttcctaga	6	12	1	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr18:61565002C>T	uc010xeu.1	+	6	792	c.459C>T	c.(457-459)CCC>CCT	p.P153P	SERPINB2_uc002ljo.2_Silent_p.P153P|SERPINB2_uc010dqh.2_Silent_p.P83P|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	153					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCTCAGAACCCCAGGCAGTAG	0.353													T	61565002	C	T	61565002	2	4	263	1	0	0	0	0	0	0	0	1	14101	610	22	4		4	SERPINB2	18	61565002	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		61565002	16512246	76	129499											
MUC16	94025	broad.mit.edu	37	chr19	9086755	9086755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcttcttcctggagcaCtagtaacaaggagtcccatt	9	10	1	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr19:9086755C>A	uc002mkp.2	-	1	5264	c.5060G>T	c.(5059-5061)AGT>ATT	p.S1687I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1687	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCCTGGAGCACTAGTAACAAG	0.483													A	9086755	C	A	9086755	3	1	263	1	0	0	0	0	1	0	0	0	9973	565	20	5	38799	5	MUC16	19	9086755	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08		9086755	50042228	77	129500											
GIPC1	10755	broad.mit.edu	37	chr19	14591487	14591487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacacctccacctccttgCgctgccccttcacgtgggcg	9	18	1	1	rs151133470		TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr19:14591487C>T	uc002myt.2	-	5	662	c.392G>A	c.(391-393)CGC>CAC	p.R131H	GIPC1_uc002myu.2_Missense_Mutation_p.R131H|GIPC1_uc002myv.2_Missense_Mutation_p.R34H|GIPC1_uc002myw.2_Missense_Mutation_p.R34H|GIPC1_uc002myx.2_Missense_Mutation_p.R131H|GIPC1_uc002myy.2_Missense_Mutation_p.R34H	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	131					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				0						CACCTCCTTGCGCTGCCCCTT	0.617											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	14591487	C	T	14591487	3	4	263	1	0	0	0	0	1	0	0	0	6392	768	27	1	629	1	GIPC1	19	14591487	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	5504732	14591487	44537496	78	129501											
ZNF567	163081	broad.mit.edu	37	chr19	37211224	37211224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatacaggggagaaaccctAtgtttgtaatgaatgtggga	12	5	1	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr19:37211224A>C	uc010xtl.1	+	6	1820	c.1598A>C	c.(1597-1599)TAT>TCT	p.Y533S	ZNF567_uc002oeo.1_Missense_Mutation_p.Y533S|ZNF567_uc010xtk.1_Missense_Mutation_p.Y533S|ZNF567_uc002oep.3_Missense_Mutation_p.Y502S|ZNF567_uc002oeq.1_Missense_Mutation_p.Y502S	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	533	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAAACCCTATGTTTGTAAT	0.393													C	37211224	A	C	37211224	3	2	263	1	0	0	0	0	1	0	0	0	17995	449	16	5	1515	5	ZNF567	19	37211224	Missense_Mutation	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08	22619737	37211224	21917759	79	129502											
TGM6	343641	broad.mit.edu	37	chr20	2381041	2381041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgagtgtggacaaatacGtggactccttcgggcggacc	13	11	0	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr20:2381041G>A	uc002wfy.1	+	7	1001	c.940G>A	c.(940-942)GTG>ATG	p.V314M	TGM6_uc010gal.1_Missense_Mutation_p.V314M	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	314					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	GGACAAATACGTGGACTCCTT	0.617													A	2381041	G	A	2381041	3	1	263	1	0	0	0	0	1	0	0	0	15831	1145	40	1	966	1	TGM6	20	2381041	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08		2381041	60644479	80	129503											
C20orf79	140856	broad.mit.edu	37	chr20	18794852	18794852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagaaggctttccttgcCggaaagttcaaagtgagtgg	13	9	1	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr20:18794852C>T	uc002wrk.2	+	1	483	c.393C>T	c.(391-393)GCC>GCT	p.A131A	uc002wrj.1_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	hypothetical protein LOC140856	131	SCP2.						sterol binding			skin(3)	3						CTTTCCTTGCCGGAAAGTTCA	0.478													T	18794852	C	T	18794852	2	4	263	1	0	0	0	0	0	0	0	1	2119	639	23	1		1	C20orf79	20	18794852	Silent	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	16413811	18794852	44230668	81	129504											
PTPRT	11122	broad.mit.edu	37	chr20	40733227	40733227	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgaaattcatctttgatTtggctggagtttgtctgggg	12	6	3	2			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr20:40733227T>G	uc002xkg.2	-	25	3706	c.3522A>C	c.(3520-3522)CAA>CAC	p.Q1174H	PTPRT_uc010ggj.2_Missense_Mutation_p.Q1193H|PTPRT_uc010ggi.2_Missense_Mutation_p.Q377H	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1174	Cytoplasmic (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATCTTTGATTTGGCTGGAGT	0.378													G	40733227	T	G	40733227	3	3	263	1	0	0	0	0	1	0	0	0	12812	1838	64	5	831	5	PTPRT	20	40733227	Missense_Mutation	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	21938375	40733227	22292293	82	129505											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605094	47605094	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtatcaatgatagtaaagatCtgccagaagagtatctctca	8	7	4	4			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr20:47605094C>A	uc002xtx.3	+	18	2580	c.2428C>A	c.(2428-2430)CTG>ATG	p.L810M	ARFGEF2_uc010zyf.1_Missense_Mutation_p.L103M	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	810					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAGTAAAGATCTGCCAGAAGA	0.294													A	47605094	C	A	47605094	3	1	263	1	0	0	0	0	1	0	0	0	853	912	32	5	2498	5	ARFGEF2	20	47605094	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	6871867	47605094	15420426	83	129506											
RIPK4	54101	broad.mit.edu	37	chr21	43165916	43165917	+	Splice_Site	INS	-	-	A													ccctgtgggaaggactcgttINSacctcgctcctgggctccgg							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr21:43165916_43165917insA	uc002yzn.1	-	6	984	c.936_splice	c.e6+1	p.E312_splice		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3							cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						AAGGACTCGTTACCTCGCTCCT	0.569													A	43165917	-	A	43165916	8	5	263	1	0	1	1	0	0	0	1	0	13383	1769	61	0		0	RIPK4	21	43165916	Splice_Site	INS	-	TCGA-HU-A4G6-01A-11D-A24D-08		43165916	4963979	84	129507	665	2									
RIPK4	54101	broad.mit.edu	37	chr21	43165917	43165918	+	Splice_Site	INS	-	-	A													cctgtgggaaggactcgttaINScctcgctcctgggctccggg							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr21:43165916_43165917T>TA	uc002yzn.1	-	6	984	c.936_splice	c.e6+1	p.E312_splice		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	312						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						AAGGACTCGTTACCTCGCTCCT	0.569													A	43165918	-	A	43165917	8	5	263	1	0	1	1	0	0	0	1	0	13383	405	14	0	1428	0	RIPK4	21	43165917	Splice_Site	INS	-	TCGA-HU-A4G6-01A-11D-A24D-08	1	43165917	4963978	85	129508	665	2									
SEZ6L	23544	broad.mit.edu	37	chr22	26709789	26709789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattgtccccaaactggcccGagccctacgtggaaggtgaa	11	12	0	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr22:26709789G>A	uc003acb.2	+	9	2092	c.1936G>A	c.(1936-1938)GAG>AAG	p.E646K	SEZ6L_uc003acc.2_Missense_Mutation_p.E646K|SEZ6L_uc011akc.1_Missense_Mutation_p.E646K|SEZ6L_uc003acd.2_Missense_Mutation_p.E646K|SEZ6L_uc011akd.1_Missense_Mutation_p.E646K|SEZ6L_uc003ace.2_Missense_Mutation_p.E646K|SEZ6L_uc003acf.1_Missense_Mutation_p.E419K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E419K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	646	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						AAACTGGCCCGAGCCCTACGT	0.493													A	26709789	G	A	26709789	3	1	263	1	0	0	0	0	1	0	0	0	14143	1059	37	1	1970	1	SEZ6L	22	26709789	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08		26709789	24594777	86	129509											
NEFH	4744	broad.mit.edu	37	chr22	29885490	29885490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccggctgaggccaagtccCcagtgaaggaagaagcaaaa	12	11	0	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr22:29885490C>A	uc003afo.2	+	4	1932	c.1861C>A	c.(1861-1863)CCA>ACA	p.P621T	NEFH_uc003afp.2_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	621	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament					0						gGCCAAGTCCCCAGTGAAGGA	0.453													A	29885490	C	A	29885490	3	1	263	1	0	0	0	0	1	0	0	0	10314	623	22	5	1875	5	NEFH	22	29885490	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	3175701	29885490	21419076	87	129510											
GTSE1	51512	broad.mit.edu	37	chr22	46724658	46724658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcccctgacaggggttctCctccttcccgtgtgcctcag	10	16	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chr22:46724658C>T	uc011aqy.1	+	10	2010	c.1798C>T	c.(1798-1800)CCT>TCT	p.P600S	GTSE1_uc011aqz.1_Missense_Mutation_p.P447S|GTSE1_uc003bhm.1_Missense_Mutation_p.P225S|GTSE1_uc003bhn.2_5'Flank|uc011ara.1_5'Flank|uc003bho.3_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	581					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				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAGGGGTTCTCCTCCTTCCCG	0.493													T	46724658	C	T	46724658	3	4	263	1	0	0	0	0	1	0	0	0	6885	855	30	4	1832	4	GTSE1	22	46724658	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	16839168	46724658	4579908	88	129511											
USP9X	8239	broad.mit.edu	37	chrX	41000004	41000004	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagcattaaacgttcaAataattgcagcccttattaa	6	8	2	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chrX:41000004A>G	uc004dfb.2	+	7	1383	c.750A>G	c.(748-750)CAA>CAG	p.Q250Q	USP9X_uc004dfc.2_Silent_p.Q250Q	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	250					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			lung(3)|breast(2)|ovary(1)	6						TAAACGTTCAAATAATTGCAG	0.333													G	41000004	A	G	41000004	2	3	263	1	0	0	0	0	0	0	0	1	17087	11	1	3		3	USP9X	23	41000004	Silent	SNP	A	TCGA-HU-A4G6-01A-11D-A24D-08		41000004	114270556	89	129512											
IQSEC2	23096	broad.mit.edu	37	chrX	53280144	53280144	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcgggccggccctggggTgggggttctgtgctgggcag	20	10	1	0			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chrX:53280144T>G	uc004dsd.2	-	5	1815	c.1614A>C	c.(1612-1614)CCA>CCC	p.P538P	IQSEC2_uc004dsc.2_Silent_p.P333P	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	528	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						GGCCCTGGGGTGGGGGTTCTG	0.632													G	53280144	T	G	53280144	2	3	263	1	0	0	0	0	0	0	0	1	7818	1683	59	5		5	IQSEC2	23	53280144	Silent	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	12280140	53280144	101990416	90	129513											
TBX22	50945	broad.mit.edu	37	chrX	79283522	79283522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttttagagacctaccCatggaggccttctttcactc	9	12	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chrX:79283522C>T	uc010nmg.1	+	8	1030	c.896C>T	c.(895-897)CCA>CTA	p.P299L	TBX22_uc004edi.1_Missense_Mutation_p.P179L|TBX22_uc004edj.1_Missense_Mutation_p.P299L	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	299					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						GAGACCTACCCATGGAGGCCT	0.353													T	79283522	C	T	79283522	3	4	263	1	0	0	0	0	1	0	0	0	15655	594	21	4	922	4	TBX22	23	79283522	Missense_Mutation	SNP	C	TCGA-HU-A4G6-01A-11D-A24D-08	26003378	79283522	75987038	91	129514											
RNF128	79589	broad.mit.edu	37	chrX	105937253	105937254	+	Frame_Shift_Del	DEL	CA	CA	-													atgaaccaggagaataggtcCagttttttttggctccttgt							TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chrX:105937253_105937254delCA	uc004emk.2	+	1	186_187	c.21_22delCA	c.(19-24)TCCAGTfs	p.S7fs		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 2	Error:Variant_position_missing_in_Q8TEB7_after_alignment						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGAATAGGTCCAGTTTTTTTTG	0.347													-	105937254	CA	-	105937253	7	5	263	1	0	1	0	1	0	0	0	0	13436	581	21	0	23	0	RNF128	23	105937253	Frame_Shift_Del	DEL	CA	TCGA-HU-A4G6-01A-11D-A24D-08	26653731	105937253	49333307	92	129515											
ACTRT1	139741	broad.mit.edu	37	chrX	127185409	127185409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcaaaaagaacctcGggcacttggtacagctcatc	10	11	2	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chrX:127185409G>A	uc004eum.2	-	1	974	c.777C>T	c.(775-777)CCC>CCT	p.P259P		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	259						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						AAAGAACCTCGGGCACTTGGT	0.532													A	127185409	G	A	127185409	2	1	263	1	0	0	0	0	0	0	0	1	218	1103	39	1		1	ACTRT1	23	127185409	Silent	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	21248156	127185409	28085151	93	129516											
SMARCA1	6594	broad.mit.edu	37	chrX	128622973	128622973	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcaactcactctcttTagaagcaaaaacatgggtgg	8	9	4	1			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chrX:128622973T>A	uc004eun.3	-	16	2151	c.2038A>T	c.(2038-2040)AAA>TAA	p.K680*	SMARCA1_uc004eup.3_Nonsense_Mutation_p.K668*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.K680*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.K668*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	680					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			ovary(3)|skin(1)	4						TCACTCTCTTTAGAAGCAAAA	0.363													A	128622973	T	A	128622973	4	1	263	1	0	0	0	0	0	1	0	0	14768	1763	61	5	1162	5	SMARCA1	23	128622973	Nonsense_Mutation	SNP	T	TCGA-HU-A4G6-01A-11D-A24D-08	1437564	128622973	26647587	94	129517											
PLXNA3	55558	broad.mit.edu	37	chrX	153698478	153698478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggcagcaagatggtctccGagatctacctgacacggctg	13	11	2	3			TCGA-HU-A4G6-01A-11D-A24D-08	TCGA-HU-A4G6-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79ce3d3-4758-4f52-9da1-38f994c99f4e	e3e2739f-5f19-4924-8505-3babfd62f636	g.chrX:153698478G>A	uc004flm.2	+	29	5127	c.4954G>A	c.(4954-4956)GAG>AAG	p.E1652K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1652	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					GATGGTCTCCGAGATCTACCT	0.637													A	153698478	G	A	153698478	3	1	263	1	0	0	0	0	1	0	0	0	12121	1059	37	1	5064	1	PLXNA3	23	153698478	Missense_Mutation	SNP	G	TCGA-HU-A4G6-01A-11D-A24D-08	25075505	153698478	1572082	95	129518											
NOC2L	26155	broad.mit.edu	37	chr1	894619	894619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctccccgcagctgccAtgacaccaacccgaagcgtg	11	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:894619A>G	uc001abz.3	-	1	61	c.2T>C	c.(1-3)ATG>ACG	p.M1T	NOC2L_uc001aby.3_5'Flank|NOC2L_uc009vjq.2_Missense_Mutation_p.M1T|NOC2L_uc009vjr.1_Missense_Mutation_p.M1T|KLHL17_uc001aca.1_5'Flank|KLHL17_uc001acb.1_5'Flank|KLHL17_uc010nya.1_5'Flank|KLHL17_uc001acc.1_5'Flank	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	1						nucleolus	protein binding			ovary(1)|skin(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;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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGCAGCTGCCATGACACCAAC	0.552													G	894619	A	G	894619	3	3	264	1	0	0	0	0	1	0	0	0	10513	217	8	3	2323	3	NOC2L	1	894619	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08		894619	248356002	1	129519											
GLTPD1	80772	broad.mit.edu	37	chr1	1262395	1262395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacccctacattgccagCtggaagggcctggtcaggtg	14	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1262395C>T	uc001aeo.2	+	2	520	c.105C>T	c.(103-105)AGC>AGT	p.S35S	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	35						cytoplasm	glycolipid binding|glycolipid transporter activity				0	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)		ACATTGCCAGCTGGAAGGGCC	0.592													T	1262395	C	T	1262395	2	4	264	1	0	0	0	0	0	0	0	1	6472	796	28	2		2	GLTPD1	1	1262395	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	367776	1262395	247988226	2	129520											
MXRA8	54587	broad.mit.edu	37	chr1	1289254	1289254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtcgatgtacttggcaGgcagggggctgtgggccagc	18	9	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1289254G>T	uc001aew.2	-	9	1308	c.1277C>A	c.(1276-1278)CCT>CAT	p.P426H	MXRA8_uc001aex.3_Missense_Mutation_p.P432H|MXRA8_uc001aey.3_Missense_Mutation_p.P426H|MXRA8_uc010nyl.1_Missense_Mutation_p.P426H|MXRA8_uc001aez.2_Missense_Mutation_p.P325H|MXRA8_uc001afa.2_Missense_Mutation_p.P417H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	426	Cytoplasmic (Potential).					integral to membrane					0	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)		GTACTTGGCAGGCAGGGGGCT	0.617													T	1289254	G	T	1289254	3	4	264	1	0	0	0	0	1	0	0	0	10005	1000	35	5	59	5	MXRA8	1	1289254	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	26859	1289254	247961367	3	129521											
ATAD3B	83858	broad.mit.edu	37	chr1	1416256	1416256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctcagcaacttctcAatgaggagaatttacggaag	8	9	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1416256A>G	uc001afv.2	+	5	555	c.454A>G	c.(454-456)AAT>GAT	p.N152D	ATAD3B_uc001afw.2_Missense_Mutation_p.N106D|ATAD3B_uc001afx.2_Missense_Mutation_p.N106D	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	152	Potential.						ATP binding|nucleoside-triphosphatase activity				0	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)		GCAACTTCTCAATGAGGAGAA	0.552													G	1416256	A	G	1416256	3	3	264	1	0	0	0	0	1	0	0	0	1074	130	5	3	472	3	ATAD3B	1	1416256	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	127002	1416256	247834365	4	129522											
GNB1	2782	broad.mit.edu	37	chr1	1736014	1736014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagcgcagagggatggCgtggacctaatgacagaaag	18	6	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1736014C>T	uc001aif.2	-	7	606	c.274G>A	c.(274-276)GCC>ACC	p.A92T	GNB1_uc009vky.2_5'UTR	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	92					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				0	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)		AGAGGGATGGCGTGGACCTAA	0.473													T	1736014	C	T	1736014	3	4	264	1	0	0	0	0	1	0	0	0	6515	768	27	1	768	1	GNB1	1	1736014	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	319758	1736014	247514607	5	129523											
GABRD	2563	broad.mit.edu	37	chr1	1961598	1961598	+	Frame_Shift_Del	DEL	G	G	-													gcagcccgctcaggaggccaGgggggcatccgtgcccggct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1961597_1961597AG>A	uc001aip.2	+	8	1330	c.1235_1235AG>A	c.(1234-1236)cagfs	p.Q412fs		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	412						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel 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)		TCAGGAGGCCAGGGGGGCATC	0.682													-	1961598	G	-	1961598	7	5	264	1	0	1	0	1	0	0	0	0	6169	991	35	0	1270	0	GABRD	1	1961598	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	225584	1961598	247289023	6	129524											
MORN1	79906	broad.mit.edu	37	chr1	2268277	2268277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccccgggacaatggggcGcatgtcccctggctgaggag	17	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:2268277G>A	uc001ajb.1	-	11	1070	c.1049C>T	c.(1048-1050)GCG>GTG	p.A350V	MORN1_uc009vld.2_Missense_Mutation_p.A326V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	350										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACAATGGGGCGCATGTCCCCT	0.657													A	2268277	G	A	2268277	3	1	264	1	0	0	0	0	1	0	0	0	9708	1087	38	1	460	1	MORN1	1	2268277	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	306679	2268277	246982344	7	129525											
MEGF6	1953	broad.mit.edu	37	chr1	3417789	3417789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaggcacaggcaggctcCggtctcagggtcgcagcggg	19	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:3417789C>T	uc001akl.2	-	19	2625	c.2398G>A	c.(2398-2400)GGA>AGA	p.G800R	MEGF6_uc001akk.2_Missense_Mutation_p.G695R	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	800	EGF-like 13.					extracellular region	calcium ion binding			large_intestine(1)	1	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)		AGGCAGGCTCCGGTCTCAGGG	0.697													T	3417789	C	T	3417789	3	4	264	1	0	0	0	0	1	0	0	0	9462	661	23	1	2303	1	MEGF6	1	3417789	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1149512	3417789	245832832	8	129526											
C1orf174	339448	broad.mit.edu	37	chr1	3807424	3807424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctgctgcacagaaacGccagcctcgctgcctggaag	11	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:3807424G>A	uc001alf.2	-	3	434	c.327C>T	c.(325-327)GGC>GGT	p.G109G	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	109											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACAGAAACGCCAGCCTCGC	0.542													A	3807424	G	A	3807424	2	1	264	1	0	0	0	0	0	0	0	1	2015	1074	38	1		1	C1orf174	1	3807424	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	389635	3807424	245443197	9	129527											
NPHP4	261734	broad.mit.edu	37	chr1	5965733	5965733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaataggggcatgcaaaggCgtgaacggcagctcctgtaa	13	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:5965733C>T	uc001alq.1	-	14	1988	c.1722G>A	c.(1720-1722)ACG>ACA	p.T574T	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	574					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		CATGCAAAGGCGTGAACGGCA	0.597													T	5965733	C	T	5965733	2	4	264	1	0	0	0	0	0	0	0	1	10581	755	27	1		1	NPHP4	1	5965733	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2158309	5965733	243284888	10	129528											
CHD5	26038	broad.mit.edu	37	chr1	6171885	6171885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgccggtgccagatgtcGtagattttcccagaggatac	13	10	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:6171885G>A	uc001amb.1	-	36	5299	c.5199C>T	c.(5197-5199)TAC>TAT	p.Y1733Y	CHD5_uc001alz.1_Silent_p.Y590Y|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1733					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.Y1733Y(1)		central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		GCCAGATGTCGTAGATTTTCC	0.627													A	6171885	G	A	6171885	2	1	264	1	0	0	0	0	0	0	0	1	3328	1140	40	1		1	CHD5	1	6171885	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	206152	6171885	243078736	11	129529											
PER3	8863	broad.mit.edu	37	chr1	7887694	7887694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccaactctggacccacCcccttcagtcaccagccaaa	6	18	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:7887694C>T	uc001aoo.2	+	17	2856	c.2681C>T	c.(2680-2682)CCC>CTC	p.P894L	PER3_uc009vmg.1_Missense_Mutation_p.P902L|PER3_uc009vmh.1_Missense_Mutation_p.P895L|PER3_uc001aop.2_Missense_Mutation_p.P902L|PER3_uc010nzw.1_Missense_Mutation_p.P583L	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	894	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	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)		CTGGACCCACCCCCTTCAGTC	0.547													T	7887694	C	T	7887694	3	4	264	1	0	0	0	0	1	0	0	0	11731	623	22	4	2747	4	PER3	1	7887694	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1715809	7887694	241362927	12	129530											
SLC2A7	155184	broad.mit.edu	37	chr1	9063463	9063463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctcttggcaaaaatgcGgtttatctccacaaatgttt	7	8	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:9063463G>A	uc009vmo.1	-	12	1435	c.1435C>T	c.(1435-1437)CGC>TGC	p.R479C		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	479	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)		GCAAAAATGCGGTTTATCTCC	0.478													A	9063463	G	A	9063463	3	1	264	1	0	0	0	0	1	0	0	0	14550	1116	39	1	107	1	SLC2A7	1	9063463	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1175769	9063463	240187158	13	129531											
CASZ1	54897	broad.mit.edu	37	chr1	10699245	10699245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcagctccagctcctcctcCtcgtcctcctgcgaggactc	9	19	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:10699245C>G	uc001aro.2	-	21	5354	c.5034G>C	c.(5032-5034)GAG>GAC	p.E1678D		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1678	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		gctcctcctcctcgtcctcct	0.08													G	10699245	C	G	10699245	3	3	264	1	0	0	0	0	1	0	0	0	2685	680	24	5	249	5	CASZ1	1	10699245	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1635782	10699245	238551376	14	129532											
CASZ1	54897	broad.mit.edu	37	chr1	10719929	10719929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccaggctgggggtgggCggaaccttggcggggcctgg	23	9	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:10719929C>T	uc001aro.2	-	6	1490	c.1170G>A	c.(1168-1170)CCG>CCA	p.P390P	CASZ1_uc001arp.1_Silent_p.P390P|CASZ1_uc009vmx.2_Silent_p.P414P|CASZ1_uc001arq.1_Silent_p.P249P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	390	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		TGGGGGTGGGCGGAACCTTGG	0.721													T	10719929	C	T	10719929	2	4	264	1	0	0	0	0	0	0	0	1	2685	755	27	1		1	CASZ1	1	10719929	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	20684	10719929	238530692	15	129533											
MIIP	60672	broad.mit.edu	37	chr1	12091845	12091845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtccctcggccccacGtcccacggcagaagccctga	10	20	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:12091845G>A	uc001ato.1	+	10	1327	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	383										ovary(1)	1						TCGGCCCCACGTCCCACGGCA	0.672													A	12091845	G	A	12091845	3	1	264	1	0	0	0	0	1	0	0	0	9585	1145	40	1	1181	1	MIIP	1	12091845	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1371916	12091845	237158776	16	129534											
PRDM2	7799	broad.mit.edu	37	chr1	14107207	14107207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccacagatccctcttccCctccaccctgtcccccggta	4	23	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:14107207C>T	uc001avi.2	+	8	3773	c.2917C>T	c.(2917-2919)CCT>TCT	p.P973S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P973S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P772S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	973	Pro-rich.|SH3-binding (Potential).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		TCCCTCTTCCCCTCCACCCTG	0.602													T	14107207	C	T	14107207	3	4	264	1	0	0	0	0	1	0	0	0	12458	623	22	4	2943	4	PRDM2	1	14107207	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2015362	14107207	235143414	17	129535											
SPEN	23013	broad.mit.edu	37	chr1	16257385	16257385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctagagagaaaagaGgaagattctgacttcatttc	9	7	3	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:16257385G>T	uc001axk.1	+	11	4854	c.4650G>T	c.(4648-4650)GAG>GAT	p.E1550D	SPEN_uc010obp.1_Missense_Mutation_p.E1509D	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1550					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		AGAGAAAAGAGGAAGATTCTG	0.423													T	16257385	G	T	16257385	3	4	264	1	0	0	0	0	1	0	0	0	15037	991	35	5	4692	5	SPEN	1	16257385	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2150178	16257385	232993236	18	129536											
CROCC	9696	broad.mit.edu	37	chr1	17265406	17265406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcccccaccctcaggcCgtcttgtcagactctgagag	8	18	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:17265406C>T	uc001azt.2	+	12	1446	c.1377C>T	c.(1375-1377)GCC>GCT	p.A459A	CROCC_uc009voy.1_Silent_p.A162A|CROCC_uc009voz.1_Silent_p.A222A|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	459					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		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)		ACCCTCAGGCCGTCTTGTCAG	0.682													T	17265406	C	T	17265406	2	4	264	1	0	0	0	0	0	0	0	1	3893	639	23	1		1	CROCC	1	17265406	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1008021	17265406	231985215	19	129537											
PADI2	11240	broad.mit.edu	37	chr1	17418909	17418909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatcactcactctccaCgtagaacacgcccactttgt	7	15	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:17418909C>T	uc001baf.2	-	6	731	c.649G>A	c.(649-651)GTG>ATG	p.V217M	PADI2_uc010ocm.1_Intron|PADI2_uc001bag.1_Missense_Mutation_p.V217M	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	217					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCACTCTCCACGTAGAACACG	0.582													T	17418909	C	T	17418909	3	4	264	1	0	0	0	0	1	0	0	0	11378	536	19	1	1392	1	PADI2	1	17418909	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	153503	17418909	231831712	20	129538											
PAX7	5081	broad.mit.edu	37	chr1	19062357	19062357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggccggctatcagtacGgccagtacggccagagtgag	15	12	1	2	rs140323790	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:19062357G>A	uc001bay.2	+	8	1985	c.1387G>A	c.(1387-1389)GGC>AGC	p.G463S	PAX7_uc001baz.2_Missense_Mutation_p.G461S|PAX7_uc010oct.1_Missense_Mutation_p.G463S	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	463					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		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)		CTATCAGTACGGCCAGTACGG	0.642			T	FOXO1A	alveolar rhabdomyosarcoma								A	19062357	G	A	19062357	3	1	264	1	0	0	0	0	1	0	0	0	11484	1116	39	1	1417	1	PAX7	1	19062357	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1643448	19062357	230188264	21	129539											
HTR6	3362	broad.mit.edu	37	chr1	19992504	19992504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgccggccatgctgaaCgcgctgtacgggcgctgggt	16	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:19992504C>T	uc001bcl.2	+	1	725	c.258C>T	c.(256-258)AAC>AAT	p.N86N		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	86	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		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)	CCATGCTGAACGCGCTGTACG	0.662													T	19992504	C	T	19992504	2	4	264	1	0	0	0	0	0	0	0	1	7451	535	19	1		1	HTR6	1	19992504	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	930147	19992504	229258117	22	129540											
HTR6	3362	broad.mit.edu	37	chr1	20005625	20005625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagcggcccccggcccGgccttagcctacagcaggtg	12	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:20005625G>A	uc001bcl.2	+	3	1554	c.1087G>A	c.(1087-1089)GGC>AGC	p.G363S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	363	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		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)	CCCCCGGCCCGGCCTTAGCCT	0.731													A	20005625	G	A	20005625	3	1	264	1	0	0	0	0	1	0	0	0	7451	1116	39	1	1097	1	HTR6	1	20005625	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	13121	20005625	229244996	23	129541											
HSPG2	3339	broad.mit.edu	37	chr1	22211332	22211332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgttcatggcctcacAggtgtaggcaccctggtctg	14	13	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:22211332A>G	uc001bfj.2	-	12	1475	c.1435T>C	c.(1435-1437)TGT>CGT	p.C479R	HSPG2_uc009vqd.2_Missense_Mutation_p.C479R	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	479	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	ATGGCCTCACAGGTGTAGGCA	0.617													G	22211332	A	G	22211332	3	3	264	1	0	0	0	0	1	0	0	0	7430	188	7	3	12084	3	HSPG2	1	22211332	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2205707	22211332	227039289	24	129542											
HSPG2	3339	broad.mit.edu	37	chr1	22222727	22222727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtacgaatgtgtccagCgcatttggcttgctgtgacg	13	8	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:22222727C>T	uc001bfj.2	-	2	180	c.140G>A	c.(139-141)CGC>CAC	p.R47H	HSPG2_uc009vqd.2_Missense_Mutation_p.R47H|HSPG2_uc009vqe.1_Missense_Mutation_p.R2H	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	47					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	ATGTGTCCAGCGCATTTGGCT	0.562													T	22222727	C	T	22222727	3	4	264	1	0	0	0	0	1	0	0	0	7430	768	27	1	13419	1	HSPG2	1	22222727	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	11395	22222727	227027894	25	129543											
LUZP1	7798	broad.mit.edu	37	chr1	23418326	23418326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctcagggcctcacccGgagcagctctggggctgctg	13	16	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:23418326G>A	uc001bgk.2	-	4	2813	c.2429C>T	c.(2428-2430)CCG>CTG	p.P810L	LUZP1_uc010odv.1_Missense_Mutation_p.P810L|LUZP1_uc001bgl.2_Missense_Mutation_p.P810L|LUZP1_uc001bgm.1_Missense_Mutation_p.P810L	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	810						nucleus					0		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)		GGCCTCACCCGGAGCAGCTCT	0.532													A	23418326	G	A	23418326	3	1	264	1	0	0	0	0	1	0	0	0	9086	1116	39	1	809	1	LUZP1	1	23418326	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1195599	23418326	225832295	26	129544											
HNRNPR	10236	broad.mit.edu	37	chr1	23637504	23637504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccccccaccacgaccccGacctctaattggaggtggca	8	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:23637504G>A	uc001bgr.3	-	11	1504	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	HNRNPR_uc001bgo.2_Missense_Mutation_p.R59W|HNRNPR_uc001bgp.3_Missense_Mutation_p.R452W|HNRNPR_uc009vqk.2_Missense_Mutation_p.R351W|HNRNPR_uc001bgs.3_Missense_Mutation_p.R348W|HNRNPR_uc010odw.1_Missense_Mutation_p.R411W|HNRNPR_uc010odx.1_Missense_Mutation_p.R289W|HNRNPR_uc009vql.2_Missense_Mutation_p.R310W	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	449	RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		CCACGACCCCGACCTCTAATT	0.443													A	23637504	G	A	23637504	3	1	264	1	0	0	0	0	1	0	0	0	7272	1057	37	1	560	1	HNRNPR	1	23637504	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	219178	23637504	225613117	27	129545											
GRHL3	57822	broad.mit.edu	37	chr1	24666189	24666189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacttcaacactgtggaGcacattgaggaggtggccta	12	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:24666189G>T	uc001biy.2	+	8	1045	c.999G>T	c.(997-999)GAG>GAT	p.E333D	GRHL3_uc001bix.2_Missense_Mutation_p.E328D|GRHL3_uc001biz.2_Missense_Mutation_p.E235D	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	328					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		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)		ACACTGTGGAGCACATTGAGG	0.537													T	24666189	G	T	24666189	3	4	264	1	0	0	0	0	1	0	0	0	6765	962	34	5	1050	5	GRHL3	1	24666189	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1028685	24666189	224584432	28	129546											
SRRM1	10250	broad.mit.edu	37	chr1	24995640	24995640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctcccccacgtcggcGctcaccttctcctagaagat	6	18	3	2	rs145630406		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:24995640G>A	uc001bjm.2	+	14	1990	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	SRRM1_uc010oel.1_Missense_Mutation_p.R601H|SRRM1_uc009vrh.1_Missense_Mutation_p.R562H|SRRM1_uc009vri.1_Missense_Mutation_p.R518H	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	589	Pro-rich.|Necessary for speckles and matrix localization.|Arg-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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		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)		CCACGTCGGCGCTCACCTTCT	0.463													A	24995640	G	A	24995640	3	1	264	1	0	0	0	0	1	0	0	0	15167	1087	38	1	1820	1	SRRM1	1	24995640	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	329451	24995640	224254981	29	129547											
MAN1C1	57134	broad.mit.edu	37	chr1	25944451	25944451	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaagcgcctcttcctgGccccccggacccagcagcct	9	21	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:25944451G>C	uc001bkm.2	+	1	493	c.163G>C	c.(163-165)GCC>CCC	p.A55P	MAN1C1_uc009vry.1_5'UTR	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	55	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTCTTCCTGGCCCCCCGGAC	0.632													C	25944451	G	C	25944451	3	2	264	1	0	0	0	0	1	0	0	0	9213	1203	42	5	165	5	MAN1C1	1	25944451	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	948811	25944451	223306170	30	129548											
PAFAH2	5051	broad.mit.edu	37	chr1	26300985	26300985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actcacagaacggttatgatCctagactgttcatgctgggc	10	10	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:26300985C>A	uc001bld.3	-	9	1095	c.915G>T	c.(913-915)AGG>AGT	p.R305S	PAFAH2_uc001ble.3_Missense_Mutation_p.R305S	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	305					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-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;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTTATGATCCTAGACTGTT	0.463													A	26300985	C	A	26300985	3	1	264	1	0	0	0	0	1	0	0	0	11387	854	30	5	275	5	PAFAH2	1	26300985	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	356534	26300985	222949636	31	129549											
CATSPER4	378807	broad.mit.edu	37	chr1	26529010	26529010	+	Frame_Shift_Del	DEL	A	A	-													ctagctcacaaatactccttAaaaaacacaagagcagccac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:26529010delA	uc010oez.1	+	10	1396	c.1396delA	c.(1396-1398)AAAfs	p.K466fs	CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	466	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		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)		AATACTCCTTAAAAAACACAA	0.547													-	26529010	A	-	26529010	7	5	264	1	0	1	0	1	0	0	0	0	2690	363	13	0	1434	0	CATSPER4	1	26529010	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	228025	26529010	222721611	32	129550											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	264	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	576921	27105931	222144690	33	129551											
RCC1	1104	broad.mit.edu	37	chr1	28862386	28862386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccctttgcctgcagaacGactcctggtccccaagtgtg	9	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:28862386G>A	uc001bqg.1	+	7	750	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.R222Q|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.R222Q|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.R222Q|RCC1_uc001bqe.1_Missense_Mutation_p.R239Q|RCC1_uc001bqf.1_Missense_Mutation_p.R253Q	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	222	RCC1 4.				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			ovary(1)	1		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)		CCTGCAGAACGACTCCTGGTC	0.473													A	28862386	G	A	28862386	3	1	264	1	0	0	0	0	1	0	0	0	13173	1058	37	1	784	1	RCC1	1	28862386	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1756455	28862386	220388235	34	129552											
PTPRU	10076	broad.mit.edu	37	chr1	29581830	29581830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacccagcagtgccctgCgagtacagccaggcccagta	12	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:29581830C>T	uc001bru.2	+	2	227	c.117C>T	c.(115-117)TGC>TGT	p.C39C	PTPRU_uc001brv.2_Silent_p.C39C|PTPRU_uc001brw.2_Silent_p.C39C|PTPRU_uc009vtq.2_Silent_p.C39C|PTPRU_uc009vtr.2_Silent_p.C39C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	39	Extracellular (Potential).|MAM.				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		CAGTGCCCTGCGAGTACAGCC	0.652													T	29581830	C	T	29581830	2	4	264	1	0	0	0	0	0	0	0	1	12813	776	27	1		1	PTPRU	1	29581830	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	719444	29581830	219668791	35	129553											
SERINC2	347735	broad.mit.edu	37	chr1	31905967	31905969	+	In_Frame_Del	DEL	CTT	CTT	-													ggcgtcacctacagctactcCttcttccacttctgcctggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:31905966_31905968CCTT>C	uc021okm.1	+	9	1466_1468	c.1193_1195CCTT>C	c.(1192-1197)tccttc>tCtc	p.F400del	SERINC2_uc010ogg.2_In_Frame_Del_p.F395del|SERINC2_uc001bst.3_In_Frame_Del_p.F391del|SERINC2_uc001bsu.3_In_Frame_Del_p.F336del|SERINC2_uc010ogh.2_In_Frame_Del_p.F395del	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	392						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TACAGCTACTCCTTCTTCCACTT	0.616													-	31905969	CTT	-	31905967	7	5	264	1	0	1	0	1	0	0	0	0	14080	668	24	0	1201	0	SERINC2	1	31905967	In_Frame_Del	DEL	CTT	TCGA-HU-A4G8-01A-11D-A25D-08	2324137	31905967	217344654	36	129554											
COL16A1	1307	broad.mit.edu	37	chr1	32163710	32163710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagatgcaggacacaaagtCgccatcctggccctgggccc	12	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:32163710C>T	uc001btk.1	-	6	819	c.454G>A	c.(454-456)GAC>AAC	p.D152N	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Missense_Mutation_p.D152N	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	152	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GACACAAAGTCGCCATCCTGG	0.572													T	32163710	C	T	32163710	3	4	264	1	0	0	0	0	1	0	0	0	3673	884	31	1	4624	1	COL16A1	1	32163710	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	257743	32163710	217086911	37	129555											
ZC3H12A	80149	broad.mit.edu	37	chr1	37949169	37949169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggacccccagcagctggCtgccgagatcctctcctaca	9	18	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:37949169C>T	uc001cbb.3	+	6	1907	c.1757C>T	c.(1756-1758)GCT>GTT	p.A586V	ZC3H12A_uc001cbc.1_Missense_Mutation_p.A381V	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	586					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGCAGCTGGCTGCCGAGATC	0.652													T	37949169	C	T	37949169	3	4	264	1	0	0	0	0	1	0	0	0	17558	797	28	2	1775	2	ZC3H12A	1	37949169	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5785459	37949169	211301452	38	129556											
SNIP1	79753	broad.mit.edu	37	chr1	38003355	38003355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcttagtttgctagctGtcagacacttcttcctcctc	8	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:38003355G>A	uc001cbi.2	-	4	1258	c.1185C>T	c.(1183-1185)GAC>GAT	p.D395D	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	395					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				TTTGCTAGCTGTCAGACACTT	0.468													A	38003355	G	A	38003355	2	1	264	1	0	0	0	0	0	0	0	1	14848	1368	48	4		4	SNIP1	1	38003355	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	54186	38003355	211247266	39	129557											
GNL2	29889	broad.mit.edu	37	chr1	38032474	38032475	+	Frame_Shift_Ins	INS	-	-	T													attactgcttttgtctgaatINStttttgcgtttgtgtttctg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:38032473_38032474A>AT	uc001cbk.3	-	15	2341_2342	c.2178_2179T>AT	c.(2176-2181)aaattcfs	p.K726fs		NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	726					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)				TTTTGTCTGAATTTTTTGCGTT	0.351													T	38032475	-	T	38032474	7	5	264	1	0	1	1	0	0	0	0	0	6536	1490	52	0	21	0	GNL2	1	38032474	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	29119	38032474	211218147	40	129558											
EPHA10	284656	broad.mit.edu	37	chr1	38227637	38227637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgaagatgcgctgcccgCggccacggcttatccagcca	11	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:38227637C>T	uc009vvi.2	-	3	376	c.290G>A	c.(289-291)CGC>CAC	p.R97H	EPHA10_uc001cbw.3_Missense_Mutation_p.R97H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	97	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCTGCCCGCGGCCACGGCT	0.607													T	38227637	C	T	38227637	3	4	264	1	0	0	0	0	1	0	0	0	5166	768	27	1	2834	1	EPHA10	1	38227637	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	195163	38227637	211022984	41	129559											
PPT1	5538	broad.mit.edu	37	chr1	40546146	40546146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatggggtcatgccagtattCggcttgcacgaggctgtagg	15	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:40546146C>T	uc001cfb.2	-	6	782	c.550G>A	c.(550-552)GAA>AAA	p.E184K	PPT1_uc010ojf.1_Missense_Mutation_p.E134K|PPT1_uc010ojg.1_Missense_Mutation_p.E81K|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	184					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCCAGTATTCGGCTTGCACG	0.517													T	40546146	C	T	40546146	3	4	264	1	0	0	0	0	1	0	0	0	12411	893	31	1	386	1	PPT1	1	40546146	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2318509	40546146	208704475	42	129560											
COL9A2	1298	broad.mit.edu	37	chr1	40770189	40770189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccccactggacccctctCgccttggtcaccctgaaatg	8	17	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:40770189C>T	uc001cfh.1	-	23	1244	c.1174G>A	c.(1174-1176)GAG>AAG	p.E392K	COL9A2_uc001cfi.1_Missense_Mutation_p.E211K	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	392	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	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)			GGACCCCTCTCGCCTTGGTCA	0.622													T	40770189	C	T	40770189	3	4	264	1	0	0	0	0	1	0	0	0	3708	893	31	1	935	1	COL9A2	1	40770189	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	224043	40770189	208480432	43	129561											
ZNF684	127396	broad.mit.edu	37	chr1	41012528	41012528	+	Frame_Shift_Del	DEL	A	A	-													gtttcatttcattagacatgAaaaaaatcatacaaggaaaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:41012527_41012527GA>G	uc001cft.2	+	4	783	c.532_532GA>G	c.(532-534)gaafs	p.E178fs		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	178					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)			CATTAGACATGAAAAAAATCA	0.338													-	41012528	A	-	41012528	7	5	264	1	0	1	0	1	0	0	0	0	18088	246	9	0	547	0	ZNF684	1	41012528	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	242339	41012528	208238093	44	129562											
CLDN19	149461	broad.mit.edu	37	chr1	43205546	43205546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagtcgtagagcttgcaCtgcacttgcccagtgctctg	12	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:43205546C>T	uc001cht.1	-	1	380	c.189G>A	c.(187-189)CAG>CAA	p.Q63Q	CLDN19_uc001chu.2_Silent_p.Q63Q|CLDN19_uc010ojv.1_Silent_p.Q63Q	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	63	Extracellular (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGCTTGCACTGCACTTGCC	0.642													T	43205546	C	T	43205546	2	4	264	1	0	0	0	0	0	0	0	1	3480	564	20	4		4	CLDN19	1	43205546	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2193018	43205546	206045075	45	129563											
LEPRE1	64175	broad.mit.edu	37	chr1	43223475	43223475	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcacgggggccgatggatctGgtgtgttcttctccaagcat	13	10	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:43223475G>C	uc001chv.2	-	5	1172	c.1059C>G	c.(1057-1059)ACC>ACG	p.T353T	LEPRE1_uc001chw.2_Silent_p.T353T|LEPRE1_uc001chx.3_Silent_p.T353T	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	353					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			ovary(3)|lung(1)	4	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)	CGATGGATCTGGTGTGTTCTT	0.517											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	43223475	G	C	43223475	2	2	264	1	0	0	0	0	0	0	0	1	8729	1335	47	5		5	LEPRE1	1	43223475	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	17929	43223475	206027146	46	129564											
TIE1	7075	broad.mit.edu	37	chr1	43778274	43778274	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttctgccccccagtggTatgtgcaaggcgcaaggata	13	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:43778274T>C	uc001ciu.2	+	12	2006	c.1927_splice	c.e12+2	p.G643_splice	TIE1_uc010okd.1_Splice_Site_p.G643_splice|TIE1_uc010oke.1_Splice_Site_p.G598_splice|TIE1_uc009vwq.2_Splice_Site_p.G599_splice|TIE1_uc010okf.1_Splice_Site_p.G288_splice|TIE1_uc010okg.1_Splice_Site_p.G288_splice	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and						mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCCAGTGGTATGTGCAAGG	0.632													C	43778274	T	C	43778274	5	2	264	1	0	0	0	0	0	0	1	0	15890	1652	57	3	1975	3	TIE1	1	43778274	Splice_Site	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	554799	43778274	205472347	47	129565											
IPO13	9670	broad.mit.edu	37	chr1	44433122	44433122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtttcccctctgccCgcctcagccctgaacagaag	8	18	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:44433122C>T	uc001ckx.2	+	19	3544	c.2749C>T	c.(2749-2751)CGC>TGC	p.R917C	IPO13_uc001cky.2_Missense_Mutation_p.R135C	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	917					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCCTCTGCCCGCCTCAGCCC	0.617													T	44433122	C	T	44433122	3	4	264	1	0	0	0	0	1	0	0	0	7794	652	23	1	2823	1	IPO13	1	44433122	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	654848	44433122	204817499	48	129566											
EIF2B3	8891	broad.mit.edu	37	chr1	45340387	45340387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcatgagaaggcaatTggtaatagtcactctatctt	9	6	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:45340387T>C	uc001cmt.1	-	10	1292	c.1165A>G	c.(1165-1167)AAT>GAT	p.N389D	EIF2B3_uc001cmu.1_Missense_Mutation_p.N389D|EIF2B3_uc001cmv.1_Missense_Mutation_p.N363D|EIF2B3_uc001cmw.2_Missense_Mutation_p.N389D	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	389					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGAAGGCAATTGGTAATAGTC	0.368													C	45340387	T	C	45340387	3	2	264	1	0	0	0	0	1	0	0	0	5002	1812	63	3	242	3	EIF2B3	1	45340387	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	907265	45340387	203910234	49	129567											
MAST2	23139	broad.mit.edu	37	chr1	46497966	46497966	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcccttggcagcatgAggcctcccatcatcatccac	8	17	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46497966A>C	uc001cov.2	+	25	3587	c.3304A>C	c.(3304-3306)AGG>CGG	p.R1102R	MAST2_uc001cow.2_Silent_p.R1102R|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1102					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGCAGCATGAGGCCTCCCAT	0.597													C	46497966	A	C	46497966	2	2	264	1	0	0	0	0	0	0	0	1	9325	295	11	5		5	MAST2	1	46497966	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1157579	46497966	202752655	50	129568											
PIK3R3	8503	broad.mit.edu	37	chr1	46521525	46521525	+	Frame_Shift_Del	DEL	T	T	-													gtcaggtttgatgctattcaTttttttatctatttctcggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46521524_46521524AT>A	uc010olw.2	-	6	1039	c.1022_1022AT>T	c.(1021-1023)atgfs	p.M341fs	PIK3R3_uc001cpb.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc009vyb.3_Intron|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.M312fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc010olv.2_Frame_Shift_Del_p.M85fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	295					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428													-	46521525	T	-	46521525	7	5	264	1	0	1	0	1	0	0	0	0	11920	1493	52	0	518	0	PIK3R3	1	46521525	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	23559	46521525	202729096	51	129569											
FAAH	2166	broad.mit.edu	37	chr1	46874199	46874199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactataccatgccctccccGgccatgaggcgggccgtgct	11	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46874199G>A	uc001cpu.2	+	8	1102	c.1020G>A	c.(1018-1020)CCG>CCA	p.P340P	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	340	Cytoplasmic (By similarity).				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			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGCCCTCCCCGGCCATGAGGC	0.617													A	46874199	G	A	46874199	2	1	264	1	0	0	0	0	0	0	0	1	5353	1103	39	1		1	FAAH	1	46874199	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	352674	46874199	202376422	52	129570											
DMBX1	127343	broad.mit.edu	37	chr1	46977919	46977919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagcggcggctgctgCtgtgccctacctgggcgtca	15	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46977919C>T	uc001cpx.2	+	4	917	c.902C>T	c.(901-903)GCT>GTT	p.A301V	DMBX1_uc001cpw.2_Missense_Mutation_p.A296V	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	301					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCGGCTGCTGCTGTGCCCTAC	0.662													T	46977919	C	T	46977919	3	4	264	1	0	0	0	0	1	0	0	0	4578	797	28	2	916	2	DMBX1	1	46977919	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	103720	46977919	202272702	53	129571											
ELAVL4	1996	broad.mit.edu	37	chr1	50661259	50661259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggggtgggattcatcCgctttgataagaggattgag	15	6	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:50661259C>T	uc001csb.2	+	5	803	c.535C>T	c.(535-537)CGC>TGC	p.R179C	ELAVL4_uc001cry.3_Missense_Mutation_p.R182C|ELAVL4_uc001crz.3_Missense_Mutation_p.R179C|ELAVL4_uc001csa.3_Missense_Mutation_p.R196C|ELAVL4_uc001csc.3_Missense_Mutation_p.R179C|ELAVL4_uc009vyu.2_Missense_Mutation_p.R184C|ELAVL4_uc010omz.1_Missense_Mutation_p.R184C	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	179	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGGATTCATCCGCTTTGATAA	0.493													T	50661259	C	T	50661259	3	4	264	1	0	0	0	0	1	0	0	0	5052	652	23	1	652	1	ELAVL4	1	50661259	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3683340	50661259	198589362	54	129572											
NRD1	4898	broad.mit.edu	37	chr1	52269613	52269613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttatgcgtaaggatattgAcaaagatatcaaagaggacc	11	5	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52269613A>G	uc001ctc.3	-	22	2712	c.2390T>C	c.(2389-2391)GTC>GCC	p.V797A	NRD1_uc009vzb.2_Missense_Mutation_p.V492A|NRD1_uc001ctd.3_Missense_Mutation_p.V729A|NRD1_uc001cte.2_Missense_Mutation_p.V665A|NRD1_uc001ctf.2_Missense_Mutation_p.V729A|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	728					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				0						AAGGATATTGACAAAGATATC	0.373													G	52269613	A	G	52269613	3	3	264	1	0	0	0	0	1	0	0	0	10645	275	10	3	1317	3	NRD1	1	52269613	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1608354	52269613	196981008	55	129573											
NRD1	4898	broad.mit.edu	37	chr1	52280256	52280256	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagcttctgcagcatttttAaatactgaaagacagtgtaa	7	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52280256A>T	uc001ctc.3	-	15	2112	c.1790T>A	c.(1789-1791)TTA>TAA	p.L597*	NRD1_uc009vzb.2_Nonsense_Mutation_p.L292*|NRD1_uc001ctd.3_Nonsense_Mutation_p.L529*|NRD1_uc001cte.2_Nonsense_Mutation_p.L465*|NRD1_uc001ctf.2_Nonsense_Mutation_p.L529*|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Nonsense_Mutation_p.L397*	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	528					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				0						CAGCATTTTTAAATACTGAAA	0.393													T	52280256	A	T	52280256	4	4	264	1	0	0	0	0	0	1	0	0	10645	372	13	5	1945	5	NRD1	1	52280256	Nonsense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	10643	52280256	196970365	56	129574											
ZFYVE9	9372	broad.mit.edu	37	chr1	52705025	52705026	+	Frame_Shift_Ins	INS	-	-	G													ctctaatgtcgatacaaatgINSgggaacatttagaaagttat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52705024_52705025T>TG	uc001cto.3	+	3	2107_2108	c.1935_1936T>TG	c.(1933-1938)aatgggfs	p.N645fs	ZFYVE9_uc001ctn.3_Frame_Shift_Ins_p.N645fs|ZFYVE9_uc001ctp.3_Frame_Shift_Ins_p.N645fs	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	645					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|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						TCGATACAAATGGGGAACATTT	0.401													G	52705026	-	G	52705025	7	5	264	1	0	1	1	0	0	0	0	0	17668	1348	47	0	1942	0	ZFYVE9	1	52705025	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	424769	52705025	196545596	57	129575											
CC2D1B	200014	broad.mit.edu	37	chr1	52825200	52825200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcctccaggacagcacCgaatctctgcagaagttgga	12	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52825200C>T	uc001ctq.1	-	9	1087	c.949G>A	c.(949-951)GGT>AGT	p.G317S	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Missense_Mutation_p.G8S	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	317										ovary(2)	2						AGGACAGCACCGAATCTCTGC	0.592													T	52825200	C	T	52825200	3	4	264	1	0	0	0	0	1	0	0	0	2727	652	23	1	1691	1	CC2D1B	1	52825200	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	120175	52825200	196425421	58	129576											
HSPB11	51668	broad.mit.edu	37	chr1	54405717	54405717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagctaaaatcacttcGgacccttcagagctcagaca	8	11	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:54405717G>A	uc001cwh.2	-	2	115	c.39C>T	c.(37-39)TCC>TCT	p.S13S	HSPB11_uc001cwi.1_Silent_p.S13S	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	13					cell adhesion|response to stress						0						AAATCACTTCGGACCCTTCAG	0.328													A	54405717	G	A	54405717	2	1	264	1	0	0	0	0	0	0	0	1	7419	1103	39	1		1	HSPB11	1	54405717	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1580517	54405717	194844904	59	129577											
ACOT11	26027	broad.mit.edu	37	chr1	55072844	55072844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtagacgaggacgacGccatctaccacgtcaccagc	11	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:55072844G>A	uc001cxm.1	+	14	1490	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T	ACOT11_uc001cxj.1_Missense_Mutation_p.A348T|ACOT11_uc001cxl.1_Missense_Mutation_p.A470T	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	470	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CGAGGACGACGCCATCTACCA	0.632													A	55072844	G	A	55072844	3	1	264	1	0	0	0	0	1	0	0	0	149	1087	38	1	1462	1	ACOT11	1	55072844	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	667127	55072844	194177777	60	129578											
JAK1	3716	broad.mit.edu	37	chr1	65335036	65335036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgcatcttcttcatcAtggcatagtgtgagatggcc	10	10	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:65335036A>G	uc001dbu.1	-	6	854	c.605T>C	c.(604-606)ATG>ACG	p.M202T	JAK1_uc009wam.1_Missense_Mutation_p.M190T	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	202	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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTTCTTCATCATGGCATAGTG	0.498			Mis		ALL								G	65335036	A	G	65335036	3	3	264	1	0	0	0	0	1	0	0	0	7937	217	8	3	2939	3	JAK1	1	65335036	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	10262192	65335036	183915585	61	129579											
DNAJC6	9829	broad.mit.edu	37	chr1	65858124	65858124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctcagatcagaaatcGgagaagtcattctgtgagga	10	9	4	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:65858124G>A	uc001dcd.1	+	12	1472	c.1308G>A	c.(1306-1308)TCG>TCA	p.S436S	DNAJC6_uc001dcc.1_Silent_p.S467S|DNAJC6_uc010opc.1_Silent_p.S423S|DNAJC6_uc001dce.1_Silent_p.S493S	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	436					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						ATCAGAAATCGGAGAAGTCAT	0.418													A	65858124	G	A	65858124	2	1	264	1	0	0	0	0	0	0	0	1	4653	1103	39	1		1	DNAJC6	1	65858124	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	523088	65858124	183392497	62	129580											
IL23R	149233	broad.mit.edu	37	chr1	67648522	67648522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatgttttgttgcagatcCgccagatattcctgatgaag	10	7	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:67648522C>T	uc001ddo.2	+	4	456	c.371C>T	c.(370-372)CCG>CTG	p.P124L	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.P81L|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_Intron|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_5'UTR|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_5'UTR|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_5'UTR|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_5'UTR|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_5'UTR|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_5'UTR|IL23R_uc010oqc.1_5'UTR|IL23R_uc010oqd.1_5'UTR|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	124	Extracellular (Potential).|Fibronectin type-III 1.				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				0						GTTGCAGATCCGCCAGATATT	0.343													T	67648522	C	T	67648522	3	4	264	1	0	0	0	0	1	0	0	0	7676	652	23	1	381	1	IL23R	1	67648522	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1790398	67648522	181602099	63	129581											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77509992	77509992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacagagtgtgtcatccGcatgaatgacgcccccacac	9	15	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:77509992G>A	uc001dhi.2	+	3	540	c.365G>A	c.(364-366)CGC>CAC	p.R122H	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	122	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						TGTGTCATCCGCATGAATGAC	0.607													A	77509992	G	A	77509992	3	1	264	1	0	0	0	0	1	0	0	0	15226	1087	38	1	375	1	ST6GALNAC5	1	77509992	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9861470	77509992	171740629	64	129582											
USP33	23032	broad.mit.edu	37	chr1	78183583	78183583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatggcaaatgactgaCagaagatcatatgtcacaat	8	8	2	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:78183583C>T	uc001dht.2	-	18	2327	c.1980G>A	c.(1978-1980)CTG>CTA	p.L660L	USP33_uc001dhs.2_Silent_p.L381L|USP33_uc001dhu.2_Silent_p.L629L|USP33_uc001dhv.2_Silent_p.L465L|USP33_uc001dhw.2_Silent_p.L652L	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	660					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			lung(2)|ovary(1)	3						AAATGACTGACAGAAGATCAT	0.333													T	78183583	C	T	78183583	2	4	264	1	0	0	0	0	0	0	0	1	17061	465	17	4		4	USP33	1	78183583	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	673591	78183583	171067038	65	129583											
NEXN	91624	broad.mit.edu	37	chr1	78392424	78392424	+	Frame_Shift_Del	DEL	A	A	-													gatgaaatagaaagtgaagcAaaaaaagaatcactttctcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:78392423_78392423CA>C	uc001dic.4	+	7	1007	c.710_710CA>C	c.(709-711)gcafs	p.A237fs	NEXN_uc001dia.3_Frame_Shift_Del_p.A223fs|NEXN_uc009wcb.1_Frame_Shift_Del_p.A159fs|NEXN_uc001dib.4_Frame_Shift_Del_p.A173fs|NEXN_uc001did.1_Frame_Shift_Del_p.A147fs|NEXN_uc001dif.1_Frame_Shift_Del_p.A129fs	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	237	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAGTGAAGCAAAAAAAGAA	0.358													-	78392424	A	-	78392424	7	5	264	1	0	1	0	1	0	0	0	0	10355	117	5	0	737	0	NEXN	1	78392424	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	208841	78392424	170858197	66	129584											
PKN2	5586	broad.mit.edu	37	chr1	89226025	89226025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaacaaggtgcagagaAtatgatacagatgtattcaa	9	4	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:89226025A>G	uc001dmn.2	+	3	812	c.470A>G	c.(469-471)AAT>AGT	p.N157S	PKN2_uc001dmm.1_Missense_Mutation_p.N157S|PKN2_uc010osp.1_Missense_Mutation_p.N157S|PKN2_uc010osq.1_5'UTR|PKN2_uc009wcv.2_Missense_Mutation_p.N157S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	157	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGTGCAGAGAATATGATACAG	0.269													G	89226025	A	G	89226025	3	3	264	1	0	0	0	0	1	0	0	0	11980	101	4	3	480	3	PKN2	1	89226025	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	10833601	89226025	160024596	67	129585											
LRRC8C	84230	broad.mit.edu	37	chr1	90179228	90179228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatattccagatgtgAaaaatgactttgcttttatg	8	4	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:90179228A>G	uc001dnl.3	+	3	1341	c.1099A>G	c.(1099-1101)AAA>GAA	p.K367E		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	367						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCCAGATGTGAAAAATGACTT	0.388													G	90179228	A	G	90179228	3	3	264	1	0	0	0	0	1	0	0	0	9023	247	9	3	1105	3	LRRC8C	1	90179228	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	953203	90179228	159071393	68	129586											
MTF2	22823	broad.mit.edu	37	chr1	93599280	93599281	+	Frame_Shift_Ins	INS	-	-	A													gaagtaagcaatggcatagaINSaaaaaaaggaaagaaaaaat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:93599279_93599280G>GA	uc009wdj.3	+	11	1472_1473	c.1180_1181G>GA	c.(1180-1182)gaafs	p.E394fs	MTF2_uc010oth.2_Frame_Shift_Ins_p.E292fs|MTF2_uc009wdk.3_Frame_Shift_Ins_p.E337fs|MTF2_uc010oti.2_Frame_Shift_Ins_p.E292fs|MTF2_uc001dpi.4_Frame_Shift_Ins_p.E121fs|MTF2_uc001dpl.4_Frame_Shift_Ins_p.E292fs|MTF2_uc001dpm.4_Frame_Shift_Ins_p.E63fs	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	394						nucleus	DNA binding|zinc ion binding	p.I393T(1)		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)		CAATGGCATAGAAAAAAAAGGA	0.347													A	93599281	-	A	93599280	7	5	264	1	0	1	1	0	0	0	0	0	9923	246	9	0	1227	0	MTF2	1	93599280	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	3420052	93599280	155651341	69	129587											
CCDC18	343099	broad.mit.edu	37	chr1	93720077	93720077	+	Frame_Shift_Del	DEL	A	A	-													tgctaaagaacagcttcgagAaaaagagtttataatgctac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:93720076_93720076GA>G	uc021opx.1	+	23	3408	c.3247_3247GA>G	c.(3247-3249)gaafs	p.E1083fs	CCDC18_uc001dpr.1_5'UTR	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	1082										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)		ACAGCTTCGAGAAAAAGAGTT	0.284													-	93720077	A	-	93720077	7	5	264	1	0	1	0	1	0	0	0	0	2794	246	9	0	3696	0	CCDC18	1	93720077	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	120797	93720077	155530544	70	129588											
ARHGAP29	9411	broad.mit.edu	37	chr1	94667313	94667313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactggaaaacaagtgtcCggagttgtgctaaaatttct	9	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:94667313C>T	uc001dqj.3	-	12	1613	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q	ARHGAP29_uc009wdq.1_RNA	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	415	Potential.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AACAAGTGTCCGGAGTTGTGC	0.308													T	94667313	C	T	94667313	3	4	264	1	0	0	0	0	1	0	0	0	878	652	23	1	2589	1	ARHGAP29	1	94667313	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	947236	94667313	154583308	71	129589											
LPPR5	163404	broad.mit.edu	37	chr1	99470286	99470286	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtcgacgcggtgggccccCtccccggtccgccgaggcag	16	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:99470286C>A	uc001dsb.2	-	1	164	c.-58G>T	c.(-60--56)GAGGG>GATGG		uc001dsd.1_Intron|LPPR5_uc001dsc.2_Translation_Start_Site	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1							integral to membrane	hydrolase activity				0						GGTGGGCCCCCTCCCCGGTCC	0.542													A	99470286	C	A	99470286	1	1	264	1	0	0	0	0	0	0	0	0	8928	696	24	5		5	LPPR5	1	99470286	Translation_Start_Site	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4802973	99470286	149780335	72	129590											
SASS6	163786	broad.mit.edu	37	chr1	100571405	100571405	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtagaaggtcccaatacaTcttgctttctcactagctga	7	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:100571405T>A	uc001dsu.2	-	13	1604	c.1463A>T	c.(1462-1464)GAT>GTT	p.D488V	SASS6_uc009wdz.2_Missense_Mutation_p.D321V	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	488					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		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)		TCCCAATACATCTTGCTTTCT	0.353													A	100571405	T	A	100571405	3	1	264	1	0	0	0	0	1	0	0	0	13850	1435	50	5	530	5	SASS6	1	100571405	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1101119	100571405	148679216	73	129591											
COL11A1	1301	broad.mit.edu	37	chr1	103474067	103474068	+	Frame_Shift_Ins	INS	-	-	C													tggccccagatgaaccaggcINScccccctatagagaaaaagt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:103474066_103474067G>GC	uc001dum.3	-	14	1989_1990	c.1671_1672C>GC	c.(1669-1674)gggcctfs	p.G557fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Ins_p.G545fs|COL11A1_uc001dun.3_Frame_Shift_Ins_p.G506fs|COL11A1_uc009weh.3_Frame_Shift_Ins_p.G429fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	545	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)		GATGAACCAGGCCCCCCCTATA	0.366													C	103474068	-	C	103474067	7	5	264	1	0	1	1	0	0	0	0	0	3667	726	26	0	3997	0	COL11A1	1	103474067	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	2902662	103474067	145776554	74	129592											
C1orf59	113802	broad.mit.edu	37	chr1	109191480	109191480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttgggcttatcacccCgttccccagcctgttctttc	7	15	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:109191480C>T	uc001dvt.3	-	8	1128	c.890G>A	c.(889-891)CGG>CAG	p.R297Q	C1orf59_uc001dvu.3_Missense_Mutation_p.R297Q|C1orf59_uc009wer.2_3'UTR	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	297					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		CTTATCACCCCGTTCCCCAGC	0.507													T	109191480	C	T	109191480	3	4	264	1	0	0	0	0	1	0	0	0	2051	652	23	1	295	1	C1orf59	1	109191480	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5717413	109191480	140059141	75	129593											
CLCC1	23155	broad.mit.edu	37	chr1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	TC	-													tctgaaatctcaagtcaacaTctctctctctcaaaatctct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:109479801_109479802ATC>A	uc021ora.1	-	8	1291_1292	c.1280_1281GAT>T	c.(1279-1281)gatfs	p.D427fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.D377fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.D427fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.D306fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.D242fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	427						Golgi apparatus|endoplasmic reticulum|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)		TCAAGTCAACATCTCTCTCTCT	0.52													-	109479803	TC	-	109479802	7	5	264	1	0	1	0	1	0	0	0	0	3460	1435	50	0	383	0	CLCC1	1	109479802	Frame_Shift_Del	DEL	TC	TCGA-HU-A4G8-01A-11D-A25D-08	288322	109479802	139770819	76	129594											
SARS	6301	broad.mit.edu	37	chr1	109772108	109772108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagtgtgacgcggagCggataaagttggaagcagag	16	6	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:109772108C>T	uc001dwu.1	+	4	436	c.361C>T	c.(361-363)CGG>TGG	p.R121W	SARS_uc001dwt.1_Missense_Mutation_p.R121W|SARS_uc001dwv.1_Missense_Mutation_p.R121W|SARS_uc001dww.1_Missense_Mutation_p.R54W|SARS_uc001dwx.1_Missense_Mutation_p.R121W|SARS_uc009wfa.1_Missense_Mutation_p.R121W|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	121					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGACGCGGAGCGGATAAAGTT	0.507													T	109772108	C	T	109772108	3	4	264	1	0	0	0	0	1	0	0	0	13844	759	27	1	375	1	SARS	1	109772108	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	292306	109772108	139478513	77	129595											
RBM15	64783	broad.mit.edu	37	chr1	110882873	110882873	+	Frame_Shift_Del	DEL	C	C	-													tctgtaggtggtcaccggcaCccccctggaggtggtggagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:110882872_110882872AC>A	uc001dzl.1	+	0	928	c.845_845AC>A	c.(844-846)cacfs	p.H282fs	RBM15_uc001dzm.1_Frame_Shift_Del_p.H282fs|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Frame_Shift_Del_p.H282fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	282					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein 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)		GGTCACCGGCACCCCCCTGGA	0.622			T	MKL1	acute megakaryocytic leukemia								-	110882873	C	-	110882873	7	5	264	1	0	1	0	1	0	0	0	0	13116	506	18	0	848	0	RBM15	1	110882873	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1110765	110882873	138367748	78	129596											
RBM15	64783	broad.mit.edu	37	chr1	110884619	110884619	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccattcttttggctgtgccTggaagttctgacagccggtc	12	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:110884619T>C	uc001dzl.1	+	1	2675	c.2592T>C	c.(2590-2592)CCT>CCC	p.P864P	RBM15_uc001dzm.1_Silent_p.P864P|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	864	SPOC.				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)		TGGCTGTGCCTGGAAGTTCTG	0.507			T	MKL1	acute megakaryocytic leukemia								C	110884619	T	C	110884619	2	2	264	1	0	0	0	0	0	0	0	1	13116	1567	55	3		3	RBM15	1	110884619	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1746	110884619	138366002	79	129597											
DDX20	11218	broad.mit.edu	37	chr1	112309020	112309020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagtgacagtgattcTtacagctcaagaacctcttc	8	10	4	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:112309020T>C	uc001ebs.2	+	11	2331	c.1974T>C	c.(1972-1974)TCT>TCC	p.S658S	DDX20_uc010owf.1_Silent_p.S420S|DDX20_uc001ebt.2_Silent_p.S266S	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	658					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			lung(1)|kidney(1)	2		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)		ACAGTGATTCTTACAGCTCAA	0.423													C	112309020	T	C	112309020	2	2	264	1	0	0	0	0	0	0	0	1	4348	1596	56	3		3	DDX20	1	112309020	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1424401	112309020	136941601	80	129598											
DCLRE1B	64858	broad.mit.edu	37	chr1	114448226	114448226	+	Frame_Shift_Del	DEL	C	C	-													accatgaatggggtcctgatCccccatacgcccatcgcagt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:114448225_114448225TC>T	uc001eeg.3	+	0	311	c.17_17TC>T	c.(16-18)atcfs	p.I6fs	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	6					DNA repair|cell cycle checkpoint|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)		GGGGTCCTGATCCCCCATACG	0.627								Other identified genes with known or suspected DNA repair function					-	114448226	C	-	114448226	7	5	264	1	0	1	0	1	0	0	0	0	4295	845	30	0	20	0	DCLRE1B	1	114448226	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	2139206	114448226	134802395	81	129599											
TRIM33	51592	broad.mit.edu	37	chr1	114940422	114940422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctgagtagatctctgTgagtttatcttcaaagtaca	8	8	4	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:114940422T>C	uc001eew.2	-	20	3316	c.3232A>G	c.(3232-3234)ACA>GCA	p.T1078A	TRIM33_uc010owr.1_Missense_Mutation_p.T692A|TRIM33_uc010ows.1_Missense_Mutation_p.T710A|TRIM33_uc001eex.2_Missense_Mutation_p.T1061A	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1078					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			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	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)		TAGATCTCTGTGAGTTTATCT	0.438			T	RET	papillary thyroid								C	114940422	T	C	114940422	3	2	264	1	0	0	0	0	1	0	0	0	16504	1696	59	3	155	3	TRIM33	1	114940422	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	492196	114940422	134310199	82	129600											
NGF	4803	broad.mit.edu	37	chr1	115829311	115829311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctgaagtttagtccagtGggcttgggggatggtgtgtc	17	5	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:115829311G>T	uc001efu.1	-	3	275	c.106C>A	c.(106-108)CAC>AAC	p.H36N		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	36					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			upper_aerodigestive_tract(2)	2	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)	TTAGTCCAGTGGGCTTGGGGG	0.597													T	115829311	G	T	115829311	3	4	264	1	0	0	0	0	1	0	0	0	10395	1348	47	5	623	5	NGF	1	115829311	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	888889	115829311	133421310	83	129601											
CD58	965	broad.mit.edu	37	chr1	117078722	117078722	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgagttacgtttacattGctccataggacaatcccatg	9	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117078722G>A	uc001egm.2	-	3	614	c.493C>T	c.(493-495)CAA>TAA	p.Q165*	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Nonsense_Mutation_p.Q165*|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Nonsense_Mutation_p.Q165*	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	165	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	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)		CGTTTACATTGCTCCATAGGA	0.353													A	117078722	G	A	117078722	4	1	264	1	0	0	0	0	0	1	0	0	3025	1328	46	2	279	2	CD58	1	117078722	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1249411	117078722	132171899	84	129602											
IGSF3	3321	broad.mit.edu	37	chr1	117122035	117122035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctagaacacggatgcCgatgggggctgactcctcct	12	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117122035C>T	uc001egr.1	-	10	4018	c.3313G>A	c.(3313-3315)GGC>AGC	p.G1105S	IGSF3_uc001egq.1_Missense_Mutation_p.G1125S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1105	Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		ACACGGATGCCGATGGGGGCT	0.522													T	117122035	C	T	117122035	3	4	264	1	0	0	0	0	1	0	0	0	7601	652	23	1	279	1	IGSF3	1	117122035	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	43313	117122035	132128586	85	129603											
PTGFRN	5738	broad.mit.edu	37	chr1	117504095	117504095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagagaggagcaagcagCgggcccaggatggagacttt	17	7	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117504095C>T	uc001egv.1	+	5	1581	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	482	Extracellular (Potential).|Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	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)		GAGCAAGCAGCGGGCCCAGGA	0.502													T	117504095	C	T	117504095	3	4	264	1	0	0	0	0	1	0	0	0	12750	759	27	1	1462	1	PTGFRN	1	117504095	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	382060	117504095	131746526	86	129604											
TRIM45	80263	broad.mit.edu	37	chr1	117656056	117656056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgcagcagtgaaacaCgcctgagtgtgggcggtgct	17	8	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117656056C>T	uc001egz.2	-	5	2107	c.1519G>A	c.(1519-1521)GTG>ATG	p.V507M	TRIM45_uc009whe.2_Missense_Mutation_p.V489M|TRIM45_uc001eha.2_Missense_Mutation_p.V403M	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	507						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	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)		CAGTGAAACACGCCTGAGTGT	0.567													T	117656056	C	T	117656056	3	4	264	1	0	0	0	0	1	0	0	0	16517	536	19	1	231	1	TRIM45	1	117656056	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	151961	117656056	131594565	87	129605											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015953	145015953	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaacgggaccttttcaccActtctccagatctgtgactg	7	13	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:145015953A>G	uc001elx.3	-	3	470	c.135T>C	c.(133-135)AGT>AGC	p.S45S	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Silent_p.S45S|PDE4DIP_uc001elo.2_Silent_p.S116S|PDE4DIP_uc001emh.2_Silent_p.S116S|uc001emj.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTTTCACCACTTCTCCAGA	0.428			T	PDGFRB	MPD								G	145015953	A	G	145015953	2	3	264	1	0	0	0	0	0	0	0	1	11643	156	6	3		3	PDE4DIP	1	145015953	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	27359897	145015953	104234668	88	129606											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473393	145473393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaagctacgcttggcccGtttgcttctggagggaggcg	17	9	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:145473393G>A	uc001enq.1	+	4	1358	c.65G>A	c.(64-66)CGT>CAT	p.R22H	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	22	ANK 1.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCTTGGCCCGTTTGCTTCTG	0.662													A	145473393	G	A	145473393	3	1	264	1	0	0	0	0	1	0	0	0	662	1145	40	1	67	1	ANKRD34A	1	145473393	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	457440	145473393	103777228	89	129607											
BCL9	607	broad.mit.edu	37	chr1	147096667	147096667	+	Frame_Shift_Del	DEL	C	C	-													ccccaacagaacatcatgatCcccccacagatgaggccccg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:147096666_147096666TC>T	uc001epq.3	+	9	4927	c.4187_4187TC>T	c.(4186-4188)atcfs	p.I1396fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.I1310fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	1396					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)					AACATCATGATCCCCCCACAG	0.607			T	"IGH@, IGL@"	B-ALL								-	147096667	C	-	147096667	7	5	264	1	0	1	0	1	0	0	0	0	1381	845	30	0	4214	0	BCL9	1	147096667	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1623274	147096667	102153954	90	129608											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150526176	150526179	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													ctctaagccctgaaactgctCagacagaggtggcccccaga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:150526175_150526178TCAGA>T	uc009wlw.3	+	4	866_869	c.708_711TCAGA>T	c.(706-711)gctcagfs	p.A236fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.A236fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.A236fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.A236fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	236					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)			CTGAAACTGCTCAGACAGAGGTGG	0.637													-	150526179	CAGA	-	150526176	7	5	264	1	0	1	0	1	0	0	0	0	277	827	29	0	723	0	ADAMTSL4	1	150526176	Frame_Shift_Del	DEL	CAGA	TCGA-HU-A4G8-01A-11D-A25D-08	3429509	150526176	98724445	91	129609											
SETDB1	9869	broad.mit.edu	37	chr1	150923047	150923047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcagagccctcctaccGtgctcccatggagaagcttt	9	16	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:150923047G>A	uc001evu.2	+	13	1884	c.1694G>A	c.(1693-1695)CGT>CAT	p.R565H	SETDB1_uc009wmf.2_Missense_Mutation_p.R566H|SETDB1_uc001evv.2_Missense_Mutation_p.R565H|SETDB1_uc009wmg.1_Missense_Mutation_p.R565H	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	565					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			CCCTCCTACCGTGCTCCCATG	0.602													A	150923047	G	A	150923047	3	1	264	1	0	0	0	0	1	0	0	0	14138	1145	40	1	1740	1	SETDB1	1	150923047	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	396871	150923047	98327574	92	129610											
SEMA6C	10500	broad.mit.edu	37	chr1	151110219	151110219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatcctccacagagacctCgcggaagaagaagtagacat	10	11	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:151110219C>T	uc001ewu.2	-	10	1024	c.724G>A	c.(724-726)GAG>AAG	p.E242K	SEMA6C_uc001ewv.2_Missense_Mutation_p.E242K|SEMA6C_uc001eww.2_Missense_Mutation_p.E202K|SEMA6C_uc010pcq.1_Missense_Mutation_p.E242K|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	242	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			ACAGAGACCTCGCGGAAGAAG	0.552													T	151110219	C	T	151110219	3	4	264	1	0	0	0	0	1	0	0	0	14041	893	31	1	2208	1	SEMA6C	1	151110219	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	187172	151110219	98140402	93	129611											
HRNR	388697	broad.mit.edu	37	chr1	152193646	152193646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcttctggatatggaTtcagtcccaggtttaagact	9	9	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152193646T>G	uc001ezt.1	-	3	535	c.459A>C	c.(457-459)GAA>GAC	p.E153D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	153	1.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATATGGATTCAGTCCCAG	0.443													G	152193646	T	G	152193646	3	3	264	1	0	0	0	0	1	0	0	0	7359	1490	52	5	8097	5	HRNR	1	152193646	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1083427	152193646	97056975	94	129612											
FLG	2312	broad.mit.edu	37	chr1	152275687	152275687	+	Missense_Mutation	SNP	C	C	T													agccatctcttgactgctccCgagaagatccatgatggttt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152275687C>T	uc001ezu.1	-	3	11711	c.11675G>A	c.(11674-11676)CGG>CAG	p.R3892Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3892	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3892Q(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTCCCGAGAAGATCC	0.542									Ichthyosis				T	152275687	C	T	152275687	3	4	264	1	0	0	0	0	1	0	0	0	5922	652	23	1	514	1	FLG	1	152275687	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	82041	152275687	96974934	95	129613	666	2									
FLG	2312	broad.mit.edu	37	chr1	152275691	152275691	+	Missense_Mutation	SNP	A	A	C													atctcttgactgctcccgagAagatccatgatggtttctgg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152275691A>C	uc001ezu.1	-	3	11707	c.11671T>G	c.(11671-11673)TCT>GCT	p.S3891A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3891	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCCGAGAAGATCCATGA	0.547									Ichthyosis				C	152275691	A	C	152275691	3	2	264	1	0	0	0	0	1	0	0	0	5922	246	9	5	518	5	FLG	1	152275691	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	4	152275691	96974930	96	129614	666	2									
FLG	2312	broad.mit.edu	37	chr1	152286885	152286885	+	Frame_Shift_Del	DEL	T	T	-													ggtgaatatccttttctttcTtttttttcagaactagattc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152286884_152286884CT>C	uc001ezu.1	-	2	514	c.478_478AG>G	c.(478-480)gaafs	p.E160fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	160					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)			CCTTTTCTTTCTTTTTTTTCA	0.338									Ichthyosis				-	152286885	T	-	152286885	7	5	264	1	0	1	0	1	0	0	0	0	5922	1606	56	0	11712	0	FLG	1	152286885	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	11194	152286885	96963736	97	129615											
LCE3E	353145	broad.mit.edu	37	chr1	152538492	152538492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagttggacctctggcGccggcatcggtggtggcgcc	17	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152538492G>A	uc001faa.2	-	2	249	c.193C>T	c.(193-195)CGC>TGC	p.R65C		NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	65					keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GACCTCTGGCGCCGGCATCGG	0.672													A	152538492	G	A	152538492	3	1	264	1	0	0	0	0	1	0	0	0	8673	1087	38	1	89	1	LCE3E	1	152538492	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	251607	152538492	96712129	98	129616											
AQP10	89872	broad.mit.edu	37	chr1	154293725	154293725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagagtttctgggtgtgTttgtactcatggtaggtagg	16	4	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:154293725T>C	uc001feu.2	+	1	134	c.94T>C	c.(94-96)TTT>CTT	p.F32L	AQP10_uc001fev.2_Missense_Mutation_p.F32L	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	32	Helical; (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGGGTGTGTTTGTACTCAT	0.552													C	154293725	T	C	154293725	3	2	264	1	0	0	0	0	1	0	0	0	822	1725	60	3	96	3	AQP10	1	154293725	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1755233	154293725	94956896	99	129617											
PYGO2	90780	broad.mit.edu	37	chr1	154932028	154932028	+	Frame_Shift_Del	DEL	G	G	-													gggtgggtagccaggaccctGggggggcatgttgaaagcag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:154932027_154932027TG>T	uc001fft.3	-	2	655	c.449_449CA>A	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCAT	0.622													-	154932028	G	-	154932028	7	5	264	1	0	1	0	1	0	0	0	0	12864	1357	47	0	776	0	PYGO2	1	154932028	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	638303	154932028	94318593	100	129618											
HCN3	57657	broad.mit.edu	37	chr1	155257991	155257991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctatcccgggcagggCgctcccaggtctccctgctg	12	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:155257991C>T	uc001fjz.1	+	8	2070	c.2062C>T	c.(2062-2064)CGC>TGC	p.R688C	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R383C	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	688	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	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)			CCGGGCAGGGCGCTCCCAGGT	0.731													T	155257991	C	T	155257991	3	4	264	1	0	0	0	0	1	0	0	0	6998	768	27	1	2092	1	HCN3	1	155257991	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	325963	155257991	93992630	101	129619											
PKLR	5313	broad.mit.edu	37	chr1	155265285	155265285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccagggcgatggccacGggccggtagctgagtgggga	20	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:155265285G>A	uc001fkb.3	-	4	489	c.450C>T	c.(448-450)CCC>CCT	p.P150P	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.P119P|PKLR_uc010pga.1_Silent_p.P86P	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	150					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGATGGCCACGGGCCGGTAGC	0.682													A	155265285	G	A	155265285	2	1	264	1	0	0	0	0	0	0	0	1	11976	1103	39	1		1	PKLR	1	155265285	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7294	155265285	93985336	102	129620											
ASH1L	55870	broad.mit.edu	37	chr1	155449044	155449044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgatgtgctgttattaTctgttccaattccactatca	6	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:155449044T>A	uc009wqq.2	-	3	4097	c.3617A>T	c.(3616-3618)GAT>GTT	p.D1206V	ASH1L_uc001fkt.2_Missense_Mutation_p.D1206V|ASH1L_uc009wqr.1_Missense_Mutation_p.D1206V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1206					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			GCTGTTATTATCTGTTCCAAT	0.428													A	155449044	T	A	155449044	3	1	264	1	0	0	0	0	1	0	0	0	1041	1435	50	5	5381	5	ASH1L	1	155449044	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	183759	155449044	93801577	103	129621											
SEMA4A	64218	broad.mit.edu	37	chr1	156128200	156128200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgtttcaacttcatcCgtgtcctggtttcttacaat	6	11	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:156128200C>A	uc001fnl.2	+	5	489	c.385C>A	c.(385-387)CGT>AGT	p.R129S	SEMA4A_uc009wrq.2_Missense_Mutation_p.R129S|SEMA4A_uc001fnm.2_Missense_Mutation_p.R129S|SEMA4A_uc001fnn.2_Intron|SEMA4A_uc001fno.2_Missense_Mutation_p.R129S	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	129	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CAACTTCATCCGTGTCCTGGT	0.547													A	156128200	C	A	156128200	3	1	264	1	0	0	0	0	1	0	0	0	14031	652	23	5	399	5	SEMA4A	1	156128200	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	679156	156128200	93122421	104	129622											
TMEM79	84283	broad.mit.edu	37	chr1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C													cgagtgccgaaccttcatgcINSccccccgggtcacccacccc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:156255497_156255498G>GC	uc010phi.2	+	1	676_677	c.480_481G>GC	c.(478-483)atgcccfs	p.M160fs	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_Frame_Shift_Ins_p.M1fs|TMEM79_uc009wrw.3_Frame_Shift_Ins_p.M160fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	160						integral to membrane		p.R163fs*17(1)		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)					GAACCTTCATGCCCCCCCGGGT	0.658													C	156255499	-	C	156255498	7	5	264	1	0	1	1	0	0	0	0	0	16200	739	26	0	483	0	TMEM79	1	156255498	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	127298	156255498	92995123	105	129623											
ARHGEF11	9826	broad.mit.edu	37	chr1	156914828	156914828	+	Frame_Shift_Del	DEL	G	G	-													taccttgaactctgctgccaGggggttgctggccctctcca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:156914827_156914827AG>A	uc001fqo.3	-	28	3895	c.2855_2855CT>T	c.(2854-2856)ctgfs	p.L952fs	ARHGEF11_uc010phu.2_Frame_Shift_Del_p.L368fs|ARHGEF11_uc001fqn.3_Frame_Shift_Del_p.L992fs	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	952					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTGCTGCCAGGGGGTTGCT	0.567													-	156914828	G	-	156914828	7	5	264	1	0	1	0	1	0	0	0	0	896	991	35	0	1762	0	ARHGEF11	1	156914828	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	659330	156914828	92335793	106	129624											
KIRREL	55243	broad.mit.edu	37	chr1	158045968	158045968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggacagcgggccgtgCtcccctgtgtgctgctcaac	14	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158045968C>T	uc001frn.3	+	2	522	c.118C>T	c.(118-120)CTC>TTC	p.L40F	KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_5'UTR	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	40	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					GCGGGCCGTGCTCCCCTGTGT	0.627													T	158045968	C	T	158045968	3	4	264	1	0	0	0	0	1	0	0	0	8324	797	28	2	124	2	KIRREL	1	158045968	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1131140	158045968	91204653	107	129625											
OR10Z1	128368	broad.mit.edu	37	chr1	158576398	158576398	+	Frame_Shift_Del	DEL	C	C	-													gctggatagccatctgcacaCccccatgtacctcttccttt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158576397_158576397AC>A	uc010pio.2	+	0	169	c.169_169AC>A	c.(169-171)accfs	p.T57fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	57					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)					CCATCTGCACACCCCCATGTA	0.517													-	158576398	C	-	158576398	7	5	264	1	0	1	0	1	0	0	0	0	10923	507	18	0	172	0	OR10Z1	1	158576398	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	530430	158576398	90674223	108	129626											
SPTA1	6708	broad.mit.edu	37	chr1	158637847	158637847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctgctcttcaagttctgTatgtcctgagataagatgaa	8	9	3	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158637847T>C	uc001fst.1	-	15	2038	c.1839A>G	c.(1837-1839)ATA>ATG	p.I613M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	613	Spectrin 7.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCAAGTTCTGTATGTCCTGAG	0.358													C	158637847	T	C	158637847	3	2	264	1	0	0	0	0	1	0	0	0	15115	1628	57	3	5572	3	SPTA1	1	158637847	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	61449	158637847	90612774	109	129627											
OR6K6	128371	broad.mit.edu	37	chr1	158724937	158724937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccatccccaagatgctgtCctgcctaatcagtgagcaga	8	14	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158724937C>A	uc001fsw.1	+	1	332	c.332C>A	c.(331-333)TCC>TAC	p.S111Y		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	111	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					AAGATGCTGTCCTGCCTAATC	0.512													A	158724937	C	A	158724937	3	1	264	1	0	0	0	0	1	0	0	0	11204	855	30	5	334	5	OR6K6	1	158724937	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	87090	158724937	90525684	110	129628											
MNDA	4332	broad.mit.edu	37	chr1	158813817	158813817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagagcagagtaagcccCcaggtccctcaggagccagc	11	16	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158813817C>T	uc001fsz.1	+	4	675	c.475C>T	c.(475-477)CCA>TCA	p.P159S		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	159					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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GAGTAAGCCCCCAGGTCCCTC	0.458													T	158813817	C	T	158813817	3	4	264	1	0	0	0	0	1	0	0	0	9676	623	22	4	485	4	MNDA	1	158813817	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	88880	158813817	90436804	111	129629											
OR10J1	26476	broad.mit.edu	37	chr1	159410041	159410041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgcagcattgggctgAttgtagcaataacgcaagtg	14	8	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:159410041A>T	uc010piv.1	+	1	493	c.493A>T	c.(493-495)ATT>TTT	p.I165F	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	165	Helical; Name=4; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CATTGGGCTGATTGTAGCAAT	0.507													T	159410041	A	T	159410041	3	4	264	1	0	0	0	0	1	0	0	0	10910	333	12	5	495	5	OR10J1	1	159410041	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	596224	159410041	89840580	112	129630											
ATP1A4	480	broad.mit.edu	37	chr1	160141484	160141484	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgtgggcctcatatccatGattgaccctccccgagctgc	9	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:160141484G>A	uc001fve.3	+	12	2270	c.1791G>A	c.(1789-1791)ATG>ATA	p.M597I	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.M100I	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	597	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATATCCATGATTGACCCTC	0.488													A	160141484	G	A	160141484	3	1	264	1	0	0	0	0	1	0	0	0	1131	1290	45	4	1837	4	ATP1A4	1	160141484	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	731443	160141484	89109137	113	129631											
SLAMF6	114836	broad.mit.edu	37	chr1	160460408	160460408	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagcagtatgatgaaaccGaagactatgcatatcccaga	8	9	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:160460408G>A	uc001fwe.1	-	4	774	c.714C>T	c.(712-714)TTC>TTT	p.F238F	SLAMF6_uc001fwd.1_Silent_p.F238F|SLAMF6_uc010pjh.1_Silent_p.F189F|SLAMF6_uc010pji.1_Silent_p.F127F|SLAMF6_uc010pjj.1_Silent_p.F127F	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	238	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGATGAAACCGAAGACTATGC	0.353													A	160460408	G	A	160460408	2	1	264	1	0	0	0	0	0	0	0	1	14368	1049	37	1		1	SLAMF6	1	160460408	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	318924	160460408	88790213	114	129632											
ARHGAP30	257106	broad.mit.edu	37	chr1	161021121	161021121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctggggggccagggccaAggccagggccagggccaggg	20	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:161021121A>G	uc001fxl.2	-	10	1749	c.1403T>C	c.(1402-1404)CTT>CCT	p.L468P	ARHGAP30_uc001fxk.2_Missense_Mutation_p.L468P|ARHGAP30_uc001fxm.2_Missense_Mutation_p.L314P|ARHGAP30_uc009wtx.2_Missense_Mutation_p.L141P|ARHGAP30_uc001fxn.1_Missense_Mutation_p.L314P	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	468					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			gccagggccaaggccagggcc	0.423													G	161021121	A	G	161021121	3	3	264	1	0	0	0	0	1	0	0	0	879	72	3	3	1914	3	ARHGAP30	1	161021121	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	560713	161021121	88229500	115	129633											
NDUFS2	4720	broad.mit.edu	37	chr1	161183479	161183479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgatggcagcagccGcccttatcgatgcaagatca	12	11	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:161183479G>A	uc001fyv.2	+	13	1701	c.1253G>A	c.(1252-1254)CGC>CAC	p.R418H	NDUFS2_uc001fyw.2_Missense_Mutation_p.R418H|NDUFS2_uc010pkj.1_Missense_Mutation_p.R367H|NDUFS2_uc001fyx.2_Missense_Mutation_p.R392H|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	418					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			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GGCAGCAGCCGCCCTTATCGA	0.458													A	161183479	G	A	161183479	3	1	264	1	0	0	0	0	1	0	0	0	10292	1087	38	1	1299	1	NDUFS2	1	161183479	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	162358	161183479	88067142	116	129634											
ATF6	22926	broad.mit.edu	37	chr1	161928324	161928324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccatatcaaaagttcGtcagttcctccttacctccg	4	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:161928324G>A	uc001gbr.2	+	16	1960	c.1893G>A	c.(1891-1893)TCG>TCA	p.S631S	ATF6_uc001gbs.2_5'Flank	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	631	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TCAAAAGTTCGTCAGTTCCTC	0.517													A	161928324	G	A	161928324	2	1	264	1	0	0	0	0	0	0	0	1	1084	1132	40	1		1	ATF6	1	161928324	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	744845	161928324	87322297	117	129635											
LRRC52	440699	broad.mit.edu	37	chr1	165532982	165532982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaagatgaggacgaggCcgggactagggtggaagtca	18	5	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:165532982C>T	uc001gde.2	+	2	919	c.863C>T	c.(862-864)GCC>GTC	p.A288V	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	288	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAGGACGAGGCCGGGACTAGG	0.562													T	165532982	C	T	165532982	3	4	264	1	0	0	0	0	1	0	0	0	9010	739	26	2	869	2	LRRC52	1	165532982	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3604658	165532982	83717639	118	129636											
KIFAP3	22920	broad.mit.edu	37	chr1	169951178	169951178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgcagcacaagagtcaTccatggatacagttccaatc	8	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:169951178T>C	uc001ggv.2	-	15	2004	c.1733A>G	c.(1732-1734)GAT>GGT	p.D578G	KIFAP3_uc010plx.1_Missense_Mutation_p.D280G	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	578	ARM 4.				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			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAAGAGTCATCCATGGATAC	0.353													C	169951178	T	C	169951178	3	2	264	1	0	0	0	0	1	0	0	0	8311	1435	50	3	669	3	KIFAP3	1	169951178	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4418196	169951178	79299443	119	129637											
C1orf9	51430	broad.mit.edu	37	chr1	172558810	172558810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaactttgatttctgttGtggattcttcttcattacct	6	8	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:172558810G>A	uc001giq.3	+	18	2885	c.2569G>A	c.(2569-2571)GTG>ATG	p.V857M	C1orf9_uc010pmm.1_Missense_Mutation_p.V857M|C1orf9_uc009wwd.2_Missense_Mutation_p.V813M|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	857					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GATTTCTGTTGTGGATTCTTC	0.403													A	172558810	G	A	172558810	3	1	264	1	0	0	0	0	1	0	0	0	2067	1377	48	4	2639	4	C1orf9	1	172558810	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2607632	172558810	76691811	120	129638											
TNN	63923	broad.mit.edu	37	chr1	175097762	175097762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacacccttcggactgCagtcaggttcagcagaacag	9	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:175097762C>T	uc001gkl.1	+	15	3323	c.3210C>T	c.(3208-3210)TGC>TGT	p.C1070C		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1070	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTTCGGACTGCAGTCAGGTTC	0.557													T	175097762	C	T	175097762	2	4	264	1	0	0	0	0	0	0	0	1	16320	718	25	2		2	TNN	1	175097762	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2538952	175097762	74152859	121	129639											
RFWD2	64326	broad.mit.edu	37	chr1	175916354	175916354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgtaccctgactgttagCagcaatcagcacattggact	8	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:175916354C>T	uc001gku.1	-	19	2411	c.2155G>A	c.(2155-2157)GCT>ACT	p.A719T	RFWD2_uc001gkv.1_Missense_Mutation_p.A695T|RFWD2_uc001gkw.1_Missense_Mutation_p.A479T|RFWD2_uc009wwv.2_Missense_Mutation_p.A518T|RFWD2_uc001gkt.1_Missense_Mutation_p.A558T	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	719	WD 7.				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				0						TGACTGTTAGCAGCAATCAGC	0.363													T	175916354	C	T	175916354	3	4	264	1	0	0	0	0	1	0	0	0	13260	710	25	2	48	2	RFWD2	1	175916354	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	818592	175916354	73334267	122	129640											
PAPPA2	60676	broad.mit.edu	37	chr1	176564479	176564479	+	Frame_Shift_Del	DEL	G	G	-													caattccaccctgcgacaccGggttgtgcttgtgaactgtg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:176564478_176564478CG>C	uc001gkz.3	+	2	2902	c.1738_1738CG>C	c.(1738-1740)cggfs	p.R580fs	PAPPA2_uc001gky.1_Frame_Shift_Del_p.R580fs|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	580	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						CCTGCGACACCGGGTTGTGCT	0.582													-	176564479	G	-	176564479	7	5	264	1	0	1	0	1	0	0	0	0	11433	1116	39	0	1745	0	PAPPA2	1	176564479	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	648125	176564479	72686142	123	129641											
ASTN1	460	broad.mit.edu	37	chr1	177001903	177001903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggggctgcgggaccCggcggcgtttgcaccagcgc	16	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:177001903C>T	uc001glc.2	-	3	766	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	ASTN1_uc001glb.1_Missense_Mutation_p.R185Q|ASTN1_uc001gld.1_Missense_Mutation_p.R185Q|ASTN1_uc009wwx.1_Missense_Mutation_p.R185Q|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	185					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CTGCGGGACCCGGCGGCGTTT	0.617													T	177001903	C	T	177001903	3	4	264	1	0	0	0	0	1	0	0	0	1064	652	23	1	3418	1	ASTN1	1	177001903	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	437424	177001903	72248718	124	129642											
C1orf125	126859	broad.mit.edu	37	chr1	179504046	179504046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaagaagaagaacaacaaGaagaagaagaagtcaggtca	11	4	2	8	rs34055408		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:179504046G>C	uc001gmo.2	+	25	3107	c.2980G>C	c.(2980-2982)GAA>CAA	p.E994Q	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E920Q|C1orf125_uc009wxh.2_RNA	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	994	Glu-rich.										0						agaacaacaagaagaagaaga	0.224													C	179504046	G	C	179504046	3	2	264	1	0	0	0	0	1	0	0	0	1993	943	33	5	3074	5	C1orf125	1	179504046	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2502143	179504046	69746575	125	129643											
CACNA1E	777	broad.mit.edu	37	chr1	181701896	181701897	+	Frame_Shift_Del	DEL	TG	TG	-													ccaggccctgtcatggaaacTgtgacccgactcagcaggag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:181701896_181701897delTG	uc001gow.2	+	20	2839_2840	c.2674_2675delTG	c.(2674-2676)TGTfs	p.C892fs	CACNA1E_uc009wxs.2_Frame_Shift_Del_p.C780fs|CACNA1E_uc001gox.1_Frame_Shift_Del_p.C118fs|CACNA1E_uc009wxt.2_Frame_Shift_Del_p.C118fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	892	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCATGGAAACTGTGACCCGACT	0.678													-	181701897	TG	-	181701896	7	5	264	1	0	1	0	1	0	0	0	0	2542	1580	55	0	2752	0	CACNA1E	1	181701896	Frame_Shift_Del	DEL	TG	TCGA-HU-A4G8-01A-11D-A25D-08	2197850	181701896	67548725	126	129644											
CACNA1E	777	broad.mit.edu	37	chr1	181767644	181767644	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggagagcaacaatgctTgcctgaccgagtcttccaac	9	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:181767644T>C	uc001gow.2	+	47	6652	c.6487T>C	c.(6487-6489)TGC>CGC	p.C2163R	CACNA1E_uc009wxs.2_Missense_Mutation_p.C2051R|CACNA1E_uc009wxt.2_Missense_Mutation_p.C1432R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2206	Cytoplasmic (Potential).			C -> W (in Ref. 2; AAA59204/AAA59205).	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CAACAATGCTTGCCTGACCGA	0.622													C	181767644	T	C	181767644	3	2	264	1	0	0	0	0	1	0	0	0	2542	1812	63	3	6673	3	CACNA1E	1	181767644	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	65748	181767644	67482977	127	129645											
ZNF648	127665	broad.mit.edu	37	chr1	182026250	182026250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcgcccgtgtgcaggCgcctgtgctgctggagtgtg	17	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:182026250C>T	uc001goz.2	-	2	1104	c.896G>A	c.(895-897)CGC>CAC	p.R299H		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	299	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGTGTGCAGGCGCCTGTGCTG	0.706													T	182026250	C	T	182026250	3	4	264	1	0	0	0	0	1	0	0	0	18060	768	27	1	814	1	ZNF648	1	182026250	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	258606	182026250	67224371	128	129646											
RGS8	85397	broad.mit.edu	37	chr1	182617322	182617322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagatcctatgggcctTagagaccagttttgcagttg	10	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:182617322T>C	uc010pnw.1	-	6	568	c.310A>G	c.(310-312)AAG>GAG	p.K104E	RGS8_uc001gpn.1_Missense_Mutation_p.K104E|RGS8_uc001gpm.1_Missense_Mutation_p.K122E	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 2	104	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						CTATGGGCCTTAGAGACCAGT	0.537													C	182617322	T	C	182617322	3	2	264	1	0	0	0	0	1	0	0	0	13312	1763	61	3	240	3	RGS8	1	182617322	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	591072	182617322	66633299	129	129647											
DHX9	1660	broad.mit.edu	37	chr1	182853931	182853932	+	Frame_Shift_Del	DEL	TA	TA	-													tcagctgctggtatcaacctTatgattggcagtacacggtg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:182853930_182853931TTA>T	uc001gpr.3	+	26	3618_3619	c.3443_3444TTA>T	c.(3442-3444)cttfs	p.L1148fs	DHX9_uc001gps.3_Frame_Shift_Del_p.L934fs|DHX9_uc001gpt.3_Frame_Shift_Del_p.L427fs|DHX9_uc009wyd.3_Frame_Shift_Del_p.L113fs	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1148					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|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						GGTATCAACCTTATGATTGGCA	0.446													-	182853932	TA	-	182853931	7	5	264	1	0	1	0	1	0	0	0	0	4516	1741	61	0	3546	0	DHX9	1	182853931	Frame_Shift_Del	DEL	TA	TCGA-HU-A4G8-01A-11D-A25D-08	236609	182853931	66396690	130	129648											
LAMC1	3915	broad.mit.edu	37	chr1	183105532	183105532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttcagattttgataggCgtgtgaacgataacaagacg	11	5	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:183105532C>T	uc001gpy.3	+	25	4383	c.4126C>T	c.(4126-4128)CGT>TGT	p.R1376C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1376	Potential.|Domain II and I.				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			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGATAGGCGTGTGAACGA	0.453													T	183105532	C	T	183105532	3	4	264	1	0	0	0	0	1	0	0	0	8614	768	27	1	4224	1	LAMC1	1	183105532	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	251601	183105532	66145089	131	129649											
LAMC2	3918	broad.mit.edu	37	chr1	183201921	183201921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagtaccagaaccgagttCgggatactcacaggctcatc	10	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:183201921C>T	uc001gqa.2	+	14	2463	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W	LAMC2_uc001gpz.3_Missense_Mutation_p.R717W|LAMC2_uc010poa.1_Missense_Mutation_p.R417W	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	717	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						GAACCGAGTTCGGGATACTCA	0.527													T	183201921	C	T	183201921	3	4	264	1	0	0	0	0	1	0	0	0	8615	875	31	1	2203	1	LAMC2	1	183201921	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	96389	183201921	66048700	132	129650											
GLT25D2	23127	broad.mit.edu	37	chr1	184006291	184006291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgaggaagtgcggcagCgtgtgcgccgcgttgcgggc	19	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:184006291C>T	uc001gqr.2	-	1	573	c.201G>A	c.(199-201)ACG>ACA	p.T67T	GLT25D2_uc010poj.1_Silent_p.T67T|GLT25D2_uc001gqs.2_Intron	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	67					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						AGTGCGGCAGCGTGTGCGCCG	0.607													T	184006291	C	T	184006291	2	4	264	1	0	0	0	0	0	0	0	1	6467	755	27	1		1	GLT25D2	1	184006291	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	804370	184006291	65244330	133	129651											
EDEM3	80267	broad.mit.edu	37	chr1	184672044	184672044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgaataagaacagcaTggggatcttgatgtcatctg	11	6	3	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:184672044T>C	uc010pok.1	-	19	2551	c.2290A>G	c.(2290-2292)ATG>GTG	p.M764V	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.M764V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	764	PA.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						AAGAACAGCATGGGGATCTTG	0.463													C	184672044	T	C	184672044	3	2	264	1	0	0	0	0	1	0	0	0	4913	1464	51	3	516	3	EDEM3	1	184672044	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	665753	184672044	64578577	134	129652											
C1orf26	54823	broad.mit.edu	37	chr1	185144095	185144095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagagaatacctggaaagCtcccaggtttcattaaatgt	9	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:185144095C>A	uc001grg.3	+	5	930	c.816C>A	c.(814-816)AGC>AGA	p.S272R	C1orf26_uc001grh.3_Missense_Mutation_p.S272R	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	272											0						ACCTGGAAAGCTCCCAGGTTT	0.368													A	185144095	C	A	185144095	3	1	264	1	0	0	0	0	1	0	0	0	2035	796	28	5	830	5	C1orf26	1	185144095	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	472051	185144095	64106526	135	129653											
HMCN1	83872	broad.mit.edu	37	chr1	186026532	186026532	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctgtgaggattctttcAggtattagaaattctggtag	10	4	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:186026532A>G	uc001grq.1	+	46	7540	c.7311A>G	c.(7309-7311)TCA>TCG	p.S2437S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2437	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGATTCTTTCAGGTATTAGAA	0.373													G	186026532	A	G	186026532	2	3	264	1	0	0	0	0	0	0	0	1	7220	202	7	3		3	HMCN1	1	186026532	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	882437	186026532	63224089	136	129654											
HMCN1	83872	broad.mit.edu	37	chr1	186088390	186088390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgtgtcgctaggaatgcGgctggctctgcacatcgaca	12	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:186088390G>A	uc001grq.1	+	78	12145	c.11916G>A	c.(11914-11916)GCG>GCA	p.A3972A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3972	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTAGGAATGCGGCTGGCTCTG	0.398													A	186088390	G	A	186088390	2	1	264	1	0	0	0	0	0	0	0	1	7220	1103	39	1		1	HMCN1	1	186088390	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	61858	186088390	63162231	137	129655											
PTGS2	5743	broad.mit.edu	37	chr1	186645761	186645761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgccccacagcaaaccGtagatgctcagggacttgag	10	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:186645761G>A	uc001gsb.2	-	7	945	c.808C>T	c.(808-810)CGG>TGG	p.R270W	PTGS2_uc009wyo.2_Missense_Mutation_p.R117W	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	270					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			ovary(1)|central_nervous_system(1)	2					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)	ACAGCAAACCGTAGATGCTCA	0.463													A	186645761	G	A	186645761	3	1	264	1	0	0	0	0	1	0	0	0	12756	1144	40	1	1022	1	PTGS2	1	186645761	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	557371	186645761	62604860	138	129656											
DENND1B	163486	broad.mit.edu	37	chr1	197611911	197611911	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcatacagctgcagcatgTtgttcacatccacggcaaca	9	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:197611911T>C	uc001guf.3	-	10	940	c.602A>G	c.(601-603)AAC>AGC	p.N201S	DENND1B_uc010ppe.1_Missense_Mutation_p.N181S|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.N171S|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	201	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						CTGCAGCATGTTGTTCACATC	0.373													C	197611911	T	C	197611911	3	2	264	1	0	0	0	0	1	0	0	0	4427	1725	60	3	1822	3	DENND1B	1	197611911	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	10966150	197611911	51638710	139	129657											
NR5A2	2494	broad.mit.edu	37	chr1	200090068	200090068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtatgtctgaaattcttgGtgctctttagtttaggtaag	10	5	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200090068G>A	uc001gvb.2	+	7	1569	c.1363G>A	c.(1363-1365)GTG>ATG	p.V455M	NR5A2_uc001gvc.2_Missense_Mutation_p.V409M|NR5A2_uc009wzh.2_Missense_Mutation_p.V415M|NR5A2_uc010pph.1_Missense_Mutation_p.V383M	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	455					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			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					GAAATTCTTGGTGCTCTTTAG	0.408													A	200090068	G	A	200090068	3	1	264	1	0	0	0	0	1	0	0	0	10636	1261	44	4	1389	4	NR5A2	1	200090068	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2478157	200090068	49160553	140	129658											
GPR25	2848	broad.mit.edu	37	chr1	200842856	200842856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcgcgccgcctgcgaCggccgccgcacgtgggtcgg	16	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200842856C>T	uc001gvn.1	+	1	691	c.691C>T	c.(691-693)CGG>TGG	p.R231W		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	231	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						CCGCCTGCGACGGCCGCCGCA	0.687													T	200842856	C	T	200842856	3	4	264	1	0	0	0	0	1	0	0	0	6683	527	19	1	693	1	GPR25	1	200842856	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	752788	200842856	48407765	141	129659											
GPR25	2848	broad.mit.edu	37	chr1	200843100	200843100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctacctcctgctggaccGctcattccgagcccgggcgc	10	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200843100G>A	uc001gvn.1	+	1	935	c.935G>A	c.(934-936)CGC>CAC	p.R312H		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	312	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						CTGCTGGACCGCTCATTCCGA	0.706													A	200843100	G	A	200843100	3	1	264	1	0	0	0	0	1	0	0	0	6683	1087	38	1	937	1	GPR25	1	200843100	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	244	200843100	48407521	142	129660											
GPR25	2848	broad.mit.edu	37	chr1	200843201	200843201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagggacgacagttccGtgttccgttgccgggcccag	13	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200843201G>A	uc001gvn.1	+	1	1036	c.1036G>A	c.(1036-1038)GTG>ATG	p.V346M		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	346	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						CGACAGTTCCGTGTTCCGTTG	0.736													A	200843201	G	A	200843201	3	1	264	1	0	0	0	0	1	0	0	0	6683	1145	40	1	1038	1	GPR25	1	200843201	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	101	200843201	48407420	143	129661											
TIMM17A	10440	broad.mit.edu	37	chr1	201938668	201938668	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcaccttttggagactatCgacaatatcagtaggacttc	7	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:201938668C>T	uc001gxc.2	+	6	538	c.502C>T	c.(502-504)CGA>TGA	p.R168*		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	168					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						TGGAGACTATCGACAATATCA	0.398													T	201938668	C	T	201938668	4	4	264	1	0	0	0	0	0	1	0	0	15905	876	31	1	524	1	TIMM17A	1	201938668	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1095467	201938668	47311953	144	129662											
PPP1R12B	4660	broad.mit.edu	37	chr1	202464470	202464470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccagacaaacccaccaCgccagcatctccttctacgt	5	18	3	1	rs143792888	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:202464470C>T	uc001gya.1	+	16	2339	c.2195C>T	c.(2194-2196)ACG>ATG	p.T732M	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T732M|PPP1R12B_uc001gyb.1_Translation_Start_Site|PPP1R12B_uc001gyc.1_Translation_Start_Site	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	732					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAACCCACCACGCCAGCATCT	0.468													T	202464470	C	T	202464470	3	4	264	1	0	0	0	0	1	0	0	0	12355	536	19	1	2347	1	PPP1R12B	1	202464470	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	525802	202464470	46786151	145	129663											
KDM5B	10765	broad.mit.edu	37	chr1	202724446	202724446	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtcttcaatgtgccaAcagaatgaagaaaagcacat	9	8	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:202724446A>G	uc001gyf.2	-	11	1607	c.1491T>C	c.(1489-1491)TGT>TGC	p.C497C	KDM5B_uc009xag.2_Silent_p.C533C|KDM5B_uc001gyg.1_Silent_p.C339C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	497	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			ovary(2)|breast(2)|urinary_tract(1)	5						CAATGTGCCAACAGAATGAAG	0.423													G	202724446	A	G	202724446	2	3	264	1	0	0	0	0	0	0	0	1	8134	41	2	3		3	KDM5B	1	202724446	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	259976	202724446	46526175	146	129664											
CYB5R1	51706	broad.mit.edu	37	chr1	202935932	202935932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtccaggagagtgaccTgaggccggcgggacctccga	18	11	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:202935932T>C	uc001gyt.2	-	2	181	c.110A>G	c.(109-111)CAG>CGG	p.Q37R	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	37					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			GAGAGTGACCTGAGGCCGGCG	0.632													C	202935932	T	C	202935932	3	2	264	1	0	0	0	0	1	0	0	0	4126	1580	55	3	839	3	CYB5R1	1	202935932	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	211486	202935932	46314689	147	129665											
REN	5972	broad.mit.edu	37	chr1	204130437	204130437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacaggcagtgtagagaCggctgcacttggaggagggc	16	10	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:204130437C>T	uc001haq.2	-	3	400	c.356G>A	c.(355-357)CGT>CAT	p.R119H		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	119					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGTGTAGAGACGGCTGCACTT	0.577													T	204130437	C	T	204130437	3	4	264	1	0	0	0	0	1	0	0	0	13224	536	19	1	896	1	REN	1	204130437	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1194505	204130437	45120184	148	129666											
NFASC	23114	broad.mit.edu	37	chr1	204950930	204950930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctctgcccagcccaTgaatgccacctcggcctttg	8	18	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:204950930T>C	uc001hbj.2	+	21	2580	c.2252T>C	c.(2251-2253)ATG>ACG	p.M751T	NFASC_uc010pra.1_Missense_Mutation_p.M747T|NFASC_uc001hbi.2_Missense_Mutation_p.M747T|NFASC_uc010prb.1_Missense_Mutation_p.M762T|NFASC_uc010prc.1_Missense_Mutation_p.M318T|NFASC_uc001hbk.1_Missense_Mutation_p.M557T|NFASC_uc001hbl.1_Missense_Mutation_p.M1T	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	751	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GCCCAGCCCATGAATGCCACC	0.622													C	204950930	T	C	204950930	3	2	264	1	0	0	0	0	1	0	0	0	10359	1464	51	3	2410	3	NFASC	1	204950930	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	820493	204950930	44299691	149	129667											
AVPR1B	553	broad.mit.edu	37	chr1	206230974	206230974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgccggcggctctccgaCggcagcctctcgagccgcca	13	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:206230974C>T	uc001hds.2	+	2	1265	c.1107C>T	c.(1105-1107)GAC>GAT	p.D369D		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	369	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCTCTCCGACGGCAGCCTCT	0.701													T	206230974	C	T	206230974	2	4	264	1	0	0	0	0	0	0	0	1	1232	535	19	1		1	AVPR1B	1	206230974	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1280044	206230974	43019647	150	129668											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				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						TGGAGTGCTGTCCCCCCCACA	0.393													-	207642044	C	-	207642044	7	5	264	1	0	1	0	1	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1411070	207642044	41608577	151	129669											
ANGEL2	90806	broad.mit.edu	37	chr1	213170497	213170497	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattacatgcattccttacCtgggtgcccagcaacatctt	7	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:213170497C>A	uc001hjz.2	-	8	1638	c.1483G>T	c.(1483-1485)GGA>TGA	p.G495*	ANGEL2_uc010pto.1_Nonsense_Mutation_p.G369*|ANGEL2_uc010ptp.1_Nonsense_Mutation_p.G369*|ANGEL2_uc001hka.2_Nonsense_Mutation_p.G326*|ANGEL2_uc010ptq.1_RNA	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	LOC90806 protein	495											0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CATTCCTTACCTGGGTGCCCA	0.413													A	213170497	C	A	213170497	4	1	264	1	0	0	0	0	0	1	0	0	609	695	24	5	159	5	ANGEL2	1	213170497	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5528453	213170497	36080124	152	129670											
PROX1	5629	broad.mit.edu	37	chr1	214171309	214171309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccacgggcttcaccacGtccaccttccgccacccctt	6	22	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:214171309G>A	uc001hkh.2	+	2	1703	c.1431G>A	c.(1429-1431)ACG>ACA	p.T477T	PROX1_uc001hkg.1_Silent_p.T477T	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	477					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			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCTTCACCACGTCCACCTTCC	0.632													A	214171309	G	A	214171309	2	1	264	1	0	0	0	0	0	0	0	1	12560	1132	40	1		1	PROX1	1	214171309	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1000812	214171309	35079312	153	129671											
USH2A	7399	broad.mit.edu	37	chr1	215955497	215955497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgttccccgaaaacGttcaattccatttcgaagaa	7	10	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:215955497G>A	uc001hku.1	-	54	11014	c.10627C>T	c.(10627-10629)CGT>TGT	p.R3543C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3543	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCGAAAACGTTCAATTCCA	0.373										HNSCC(13;0.011)			A	215955497	G	A	215955497	3	1	264	1	0	0	0	0	1	0	0	0	17033	1145	40	1	5057	1	USH2A	1	215955497	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1784188	215955497	33295124	154	129672											
EPRS	2058	broad.mit.edu	37	chr1	220162105	220162105	+	Frame_Shift_Del	DEL	T	T	-													aggtatgtactccttcccagTtttttctttatactgagcct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220162104_220162104GT>G	uc001hly.1	-	18	2873	c.2603_2603AC>C	c.(2602-2604)actfs	p.T868fs	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Frame_Shift_Del_p.T619fs|EPRS_uc001hlz.1_Frame_Shift_Del_p.T875fs	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	868	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein 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)	CTCCTTCCCAGTTTTTTCTTT	0.388													-	220162105	T	-	220162105	7	5	264	1	0	1	0	1	0	0	0	0	5191	1725	60	0	1992	0	EPRS	1	220162105	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	4206608	220162105	29088516	155	129673											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220369673	220369673	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggactatttttaatTgctgcattaaatccacctat	7	8	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220369673T>C	uc010puk.1	-	10	1043	c.879A>G	c.(877-879)GCA>GCG	p.A293A	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	293					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TATTTTTAATTGCTGCATTAA	0.353													C	220369673	T	C	220369673	2	2	264	1	0	0	0	0	0	0	0	1	12936	1799	63	3		3	RAB3GAP2	1	220369673	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	207568	220369673	28880948	156	129674											
MARK1	4139	broad.mit.edu	37	chr1	220808733	220808733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatagtttgaaggtggtgaaTcgttatccagtggaaacttg	12	4	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220808733T>A	uc001hmn.3	+	12	1735	c.1138T>A	c.(1138-1140)TCG>ACG	p.S380T	MARK1_uc009xdw.2_Missense_Mutation_p.S380T|MARK1_uc010pun.1_Missense_Mutation_p.S380T|MARK1_uc001hmm.3_Missense_Mutation_p.S358T	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	380					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		AGGTGGTGAATCGTTATCCAG	0.398													A	220808733	T	A	220808733	3	1	264	1	0	0	0	0	1	0	0	0	9312	1435	50	5	1184	5	MARK1	1	220808733	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	439060	220808733	28441888	157	129675											
MARK1	4139	broad.mit.edu	37	chr1	220809209	220809209	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgctgtatcatatacCaaaagacctcaggctaacag	6	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220809209C>A	uc001hmn.3	+	13	1908	c.1311C>A	c.(1309-1311)ACC>ACA	p.T437T	MARK1_uc009xdw.2_Silent_p.T437T|MARK1_uc010pun.1_Silent_p.T437T|MARK1_uc001hmm.3_Silent_p.T415T	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	437					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TATCATATACCAAAAGACCTC	0.403													A	220809209	C	A	220809209	2	1	264	1	0	0	0	0	0	0	0	1	9312	581	21	5		5	MARK1	1	220809209	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	476	220809209	28441412	158	129676											
ENAH	55740	broad.mit.edu	37	chr1	225706918	225706918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcacttgatattctgcGctctctctcccattccagct	5	16	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:225706918G>A	uc001hpc.1	-	5	1237	c.784C>T	c.(784-786)CGC>TGC	p.R262C	ENAH_uc001hpd.1_Missense_Mutation_p.R262C	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	262	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GATATTCTGCGCTCTCTCTCC	0.453													A	225706918	G	A	225706918	3	1	264	1	0	0	0	0	1	0	0	0	5111	1087	38	1	1035	1	ENAH	1	225706918	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4897709	225706918	23543703	159	129677											
EPHX1	2052	broad.mit.edu	37	chr1	226032324	226032324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacccagaagcatgagcGgtgagcctggctgagccgag	16	10	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226032324G>A	uc001hpk.2	+	8	1246	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	EPHX1_uc001hpl.2_Missense_Mutation_p.R389Q	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	389					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					AAGCATGAGCGGTGAGCCTGG	0.602													A	226032324	G	A	226032324	3	1	264	1	0	0	0	0	1	0	0	0	5179	1130	39	1	1192	1	EPHX1	1	226032324	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	325406	226032324	23218297	160	129678											
PARP1	142	broad.mit.edu	37	chr1	226567625	226567625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttggggccctcacctTcctccttgacctggcccttg	10	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226567625T>C	uc001hqd.3	-	10	1712	c.1541A>G	c.(1540-1542)GAA>GGA	p.E514G		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	514	Automodification domain.				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			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCCCTCACCTTCCTCCTTGAC	0.607								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					C	226567625	T	C	226567625	3	2	264	1	0	0	0	0	1	0	0	0	11454	1783	62	3	1559	3	PARP1	1	226567625	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	535301	226567625	22682996	161	129679											
ITPKB	3707	broad.mit.edu	37	chr1	226924660	226924660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagccctgcccaaacgcGggctgcggggcgcttgaatg	16	13	0	1	rs3754416		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226924660G>A	uc010pvo.1	-	2	840	c.500C>T	c.(499-501)CCG>CTG	p.P167L	ITPKB_uc001hqh.2_Missense_Mutation_p.P167L	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	167							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GCCCAAACGCGGGCTGCGGGG	0.672													A	226924660	G	A	226924660	3	1	264	1	0	0	0	0	1	0	0	0	7918	1116	39	1	2368	1	ITPKB	1	226924660	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	357035	226924660	22325961	162	129680											
ITPKB	3707	broad.mit.edu	37	chr1	226925055	226925055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactgccctcctcgggggCgggggcgtctcgctgccact	15	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226925055C>T	uc010pvo.1	-	2	445	c.105G>A	c.(103-105)CCG>CCA	p.P35P	ITPKB_uc001hqh.2_Silent_p.P35P	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	35							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				TCCTCGGGGGCGGGGGCGTCT	0.682													T	226925055	C	T	226925055	2	4	264	1	0	0	0	0	0	0	0	1	7918	755	27	1		1	ITPKB	1	226925055	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	395	226925055	22325566	163	129681											
CDC42BPA	8476	broad.mit.edu	37	chr1	227335096	227335096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccgtatgtctccaccagCgattctgcataaaatggtgt	8	10	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:227335096C>T	uc001hqr.2	-	7	1801	c.858G>A	c.(856-858)TCG>TCA	p.S286S	CDC42BPA_uc001hqs.2_Silent_p.S286S|CDC42BPA_uc009xes.2_Silent_p.S286S|CDC42BPA_uc010pvs.1_Silent_p.S286S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	286	Protein kinase.				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			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTCCACCAGCGATTCTGCAT	0.353													T	227335096	C	T	227335096	2	4	264	1	0	0	0	0	0	0	0	1	3072	755	27	1		1	CDC42BPA	1	227335096	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	410041	227335096	21915525	164	129682											
WNT9A	7483	broad.mit.edu	37	chr1	228112053	228112053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccttggccagtgcgtgcGtcaggccagccgaggagatg	16	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228112053G>A	uc001hri.2	-	3	489	c.401C>T	c.(400-402)ACG>ATG	p.T134M		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	134					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			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				CAGTGCGTGCGTCAGGCCAGC	0.677													A	228112053	G	A	228112053	3	1	264	1	0	0	0	0	1	0	0	0	17395	1145	40	1	704	1	WNT9A	1	228112053	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	776957	228112053	21138568	165	129683											
OBSCN	84033	broad.mit.edu	37	chr1	228402120	228402120	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgactgccagacgtccaccCagttctgcgtgtcgggtgag	14	13	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228402120C>T	uc009xez.1	+	4	1548	c.1504C>T	c.(1504-1506)CAG>TAG	p.Q502*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.Q502*|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	502	Ig-like 5.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GACGTCCACCCAGTTCTGCGT	0.652													T	228402120	C	T	228402120	4	4	264	1	0	0	0	0	0	1	0	0	10812	595	21	4	1514	4	OBSCN	1	228402120	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	290067	228402120	20848501	166	129684											
OBSCN	84033	broad.mit.edu	37	chr1	228402696	228402696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctacacctgagctgacCgtggctgatgtggcggagga	17	9	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228402696C>T	uc009xez.1	+	5	1769	c.1725C>T	c.(1723-1725)ACC>ACT	p.T575T	OBSCN_uc001hsn.2_Silent_p.T575T|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGAGCTGACCGTGGCTGATG	0.587													T	228402696	C	T	228402696	2	4	264	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228402696	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	576	228402696	20847925	167	129685											
OBSCN	84033	broad.mit.edu	37	chr1	228461665	228461665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacacccacaccctgaccGtgcatggcgcccaggttctg	12	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228461665G>A	uc009xez.1	+	18	5376	c.5332G>A	c.(5332-5334)GTG>ATG	p.V1778M	OBSCN_uc001hsn.2_Missense_Mutation_p.V1778M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1778	Fibronectin type-III 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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CACCCTGACCGTGCATGGCGC	0.667													A	228461665	G	A	228461665	3	1	264	1	0	0	0	0	1	0	0	0	10812	1145	40	1	5398	1	OBSCN	1	228461665	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	58969	228461665	20788956	168	129686											
COG2	22796	broad.mit.edu	37	chr1	230819335	230819335	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatttagagaaatagcGggatccttagaagcagcact	10	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:230819335G>T	uc001htw.2	+	11	1333	c.1182G>T	c.(1180-1182)GCG>GCT	p.A394A	COG2_uc001htx.2_Silent_p.A394A|COG2_uc010pwc.1_Silent_p.A267A	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	394					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGAAATAGCGGGATCCTTAG	0.388													T	230819335	G	T	230819335	2	4	264	1	0	0	0	0	0	0	0	1	3658	1103	39	5		5	COG2	1	230819335	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2357670	230819335	18431286	169	129687											
TRIM67	440730	broad.mit.edu	37	chr1	231298765	231298765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctctctgtttcgggagcCtatcatcctgccctgttccc	9	16	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:231298765C>T	uc009xfn.1	+	1	92	c.50C>T	c.(49-51)CCT>CTT	p.P17L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	17	RING-type; degenerate.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTTCGGGAGCCTATCATCCTG	0.672													T	231298765	C	T	231298765	3	4	264	1	0	0	0	0	1	0	0	0	16537	681	24	4	52	4	TRIM67	1	231298765	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	479430	231298765	17951856	170	129688											
DISC1	27185	broad.mit.edu	37	chr1	231906637	231906637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagccaaagatcaacaGctgagaagggaaatagagga	13	6	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:231906637G>A	uc001huz.2	+	6	1508	c.1455G>A	c.(1453-1455)CAG>CAA	p.Q485Q	TSNAX-DISC1_uc010pwg.1_Silent_p.Q474Q|TSNAX-DISC1_uc010pwh.1_Silent_p.Q440Q|TSNAX-DISC1_uc010pwi.1_Silent_p.Q440Q|TSNAX-DISC1_uc010pwj.1_Silent_p.Q474Q|TSNAX-DISC1_uc010pwk.1_Silent_p.Q474Q|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.Q485Q|DISC1_uc010pwr.1_Silent_p.Q485Q|DISC1_uc010pws.1_Silent_p.Q485Q|DISC1_uc010pwt.1_Silent_p.Q485Q|DISC1_uc010pwu.1_Silent_p.Q135Q|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.Q485Q|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.Q485Q|DISC1_uc010pxb.1_Silent_p.Q485Q|DISC1_uc010pxc.1_Silent_p.Q485Q|DISC1_uc010pxd.1_Silent_p.Q130Q|DISC1_uc010pxe.1_Silent_p.Q485Q|DISC1_uc009xfr.2_Silent_p.Q440Q|DISC1_uc010pxf.1_Silent_p.Q485Q|DISC1_uc010pxg.1_Silent_p.Q485Q|DISC1_uc010pxh.1_Silent_p.Q517Q|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.Q130Q|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.Q130Q|DISC1_uc001hva.2_Silent_p.Q485Q	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	485	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				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			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				AAGATCAACAGCTGAGAAGGG	0.517													A	231906637	G	A	231906637	2	1	264	1	0	0	0	0	0	0	0	1	4538	962	34	2		2	DISC1	1	231906637	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	607872	231906637	17343984	171	129689											
PCNXL2	80003	broad.mit.edu	37	chr1	233160952	233160952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcagcatggtggccgcGttgttgtccaggatgctgta	14	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:233160952G>A	uc001hvl.2	-	26	4780	c.4545C>T	c.(4543-4545)AAC>AAT	p.N1515N	PCNXL2_uc001hvk.1_Silent_p.N167N|PCNXL2_uc001hvm.1_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1515						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGTGGCCGCGTTGTTGTCCA	0.547													A	233160952	G	A	233160952	2	1	264	1	0	0	0	0	0	0	0	1	11592	1136	40	1		1	PCNXL2	1	233160952	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1254315	233160952	16089669	172	129690											
KCNK1	3775	broad.mit.edu	37	chr1	233802541	233802541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatcgtccatgccgtgCtccttgggtttgtcactgtg	12	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:233802541C>T	uc010pxo.1	+	2	724	c.556C>T	c.(556-558)CTC>TTC	p.L186F	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	186	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCATGCCGTGCTCCTTGGGTT	0.577													T	233802541	C	T	233802541	3	4	264	1	0	0	0	0	1	0	0	0	8058	797	28	2	562	2	KCNK1	1	233802541	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	641589	233802541	15448080	173	129691											
TARBP1	6894	broad.mit.edu	37	chr1	234529428	234529428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcgatgagcgaggccaCaacgatgagtctactaattg	11	8	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:234529428C>T	uc001hwd.2	-	27	4399	c.4399G>A	c.(4399-4401)GTG>ATG	p.V1467M		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1467					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	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)			AGCGAGGCCACAACGATGAGT	0.448													T	234529428	C	T	234529428	3	4	264	1	0	0	0	0	1	0	0	0	15552	478	17	4	482	4	TARBP1	1	234529428	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	726887	234529428	14721193	174	129692											
RBM34	23029	broad.mit.edu	37	chr1	235295057	235295057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctctgtttcttagggcGtccacttttcttctgtcctt	6	11	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:235295057G>A	uc001hwn.2	-	11	1294	c.1264C>T	c.(1264-1266)CGC>TGC	p.R422C	TOMM20_uc001hwl.2_5'Flank|RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	422						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)			TTCTTAGGGCGTCCACTTTTC	0.368													A	235295057	G	A	235295057	3	1	264	1	0	0	0	0	1	0	0	0	13131	1145	40	1	32	1	RBM34	1	235295057	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	765629	235295057	13955564	175	129693											
LYST	1130	broad.mit.edu	37	chr1	235967817	235967817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcataccttctcagtcataGcatcattatgttcaaaatct	3	10	6	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:235967817G>A	uc001hxj.2	-	7	3717	c.3542C>T	c.(3541-3543)GCT>GTT	p.A1181V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.A1181V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1181					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			CTCAGTCATAGCATCATTATG	0.428									Chediak-Higashi_syndrome				A	235967817	G	A	235967817	3	1	264	1	0	0	0	0	1	0	0	0	9128	971	34	2	8051	2	LYST	1	235967817	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	672760	235967817	13282804	176	129694											
LGALS8	3964	broad.mit.edu	37	chr1	236700878	236700878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcatgttcctagtgacGcagacaggtaaaatcactgt	12	8	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:236700878G>A	uc001hxz.1	+	4	508	c.127G>A	c.(127-129)GCA>ACA	p.A43T	LGALS8_uc001hxw.1_Missense_Mutation_p.A43T|LGALS8_uc001hxy.1_Missense_Mutation_p.A43T|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.A43T|LGALS8_uc001hyb.1_Missense_Mutation_p.A43T|LGALS8_uc001hyc.1_Missense_Mutation_p.A43T	NM_201543	NP_963837	O00214	LEG8_HUMAN	galectin-8 isoform b	43	Galectin 1.					cytoplasm|extracellular space	sugar binding			ovary(1)	1	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCCTAGTGACGCAGACAGGTA	0.423													A	236700878	G	A	236700878	3	1	264	1	0	0	0	0	1	0	0	0	8747	1087	38	1	133	1	LGALS8	1	236700878	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	733061	236700878	12549743	177	129695											
RYR2	6262	broad.mit.edu	37	chr1	237806708	237806708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggagatttggtgggcGttatcagcatcgcttttcag	13	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:237806708G>A	uc001hyl.1	+	48	7423	c.7303G>A	c.(7303-7305)GTT>ATT	p.V2435I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2435	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TTTGGTGGGCGTTATCAGCAT	0.433													A	237806708	G	A	237806708	3	1	264	1	0	0	0	0	1	0	0	0	13769	1145	40	1	7493	1	RYR2	1	237806708	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1105830	237806708	11443913	178	129696											
RYR2	6262	broad.mit.edu	37	chr1	237865297	237865297	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagatgtccaggtgtcTtgttatagaattctgactag	12	5	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:237865297T>C	uc001hyl.1	+	66	9507	c.9387T>C	c.(9385-9387)TCT>TCC	p.S3129S	RYR2_uc010pxz.1_Silent_p.S84S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3129					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TCCAGGTGTCTTGTTATAGAA	0.343													C	237865297	T	C	237865297	2	2	264	1	0	0	0	0	0	0	0	1	13769	1596	56	3		3	RYR2	1	237865297	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	58589	237865297	11385324	179	129697											
FMN2	56776	broad.mit.edu	37	chr1	240255952	240255952	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accagctcgggctcggacacGgacatctatagcttccattc	9	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:240255952G>T	uc010pyd.1	+	1	768	c.543G>T	c.(541-543)ACG>ACT	p.T181T	FMN2_uc010pye.1_Silent_p.T181T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	181					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCTCGGACACGGACATCTATA	0.537													T	240255952	G	T	240255952	2	4	264	1	0	0	0	0	0	0	0	1	5950	1103	39	5		5	FMN2	1	240255952	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2390655	240255952	8994669	180	129698											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159566	242159566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcgtaggtcatgtacaCgaagccatcctcatccttgt	11	11	2	0	rs112610111	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:242159566C>T	uc001hzk.2	-	4	418	c.343G>A	c.(343-345)GTG>ATG	p.V115M		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	115					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCATGTACACGAAGCCATCC	0.552													T	242159566	C	T	242159566	3	4	264	1	0	0	0	0	1	0	0	0	9233	536	19	1	104	1	MAP1LC3C	1	242159566	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1903614	242159566	7091055	181	129699											
KIF26B	55083	broad.mit.edu	37	chr1	245766056	245766056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccaaagatgtttgccttcGatgcagtttttccacaagac	7	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:245766056G>A	uc001ibf.1	+	6	1968	c.1528G>A	c.(1528-1530)GAT>AAT	p.D510N	KIF26B_uc010pyq.1_Missense_Mutation_p.D510N|KIF26B_uc001ibg.1_Missense_Mutation_p.D128N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	510	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			GTTTGCCTTCGATGCAGTTTT	0.507													A	245766056	G	A	245766056	3	1	264	1	0	0	0	0	1	0	0	0	8295	1058	37	1	1550	1	KIF26B	1	245766056	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3606490	245766056	3484565	182	129700											
NLRP3	114548	broad.mit.edu	37	chr1	247588619	247588619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaaagctgcagatccagcCcagccagctggaattgttct	9	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:247588619C>A	uc001icr.2	+	5	2012	c.1874C>A	c.(1873-1875)CCC>CAC	p.P625H	NLRP3_uc001ics.2_Missense_Mutation_p.P625H|NLRP3_uc001icu.2_Missense_Mutation_p.P625H|NLRP3_uc001icw.2_Missense_Mutation_p.P625H|NLRP3_uc001icv.2_Missense_Mutation_p.P625H|NLRP3_uc010pyw.1_Missense_Mutation_p.P623H|NLRP3_uc001ict.1_Missense_Mutation_p.P623H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	625					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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			CAGATCCAGCCCAGCCAGCTG	0.463													A	247588619	C	A	247588619	3	1	264	1	0	0	0	0	1	0	0	0	10478	623	22	5	1884	5	NLRP3	1	247588619	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1822563	247588619	1662002	183	129701											
OR2AK2	391191	broad.mit.edu	37	chr1	248129532	248129532	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccattgtcacacctctacTgaacccatttatctacagcc	3	16	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:248129532T>G	uc010pzd.1	+	1	899	c.899T>G	c.(898-900)CTG>CGG	p.L300R	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	300	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)			ACACCTCTACTGAACCCATTT	0.463													G	248129532	T	G	248129532	3	3	264	1	0	0	0	0	1	0	0	0	10986	1580	55	5	901	5	OR2AK2	1	248129532	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	540913	248129532	1121089	184	129702											
ACP1	52	broad.mit.edu	37	chr2	277054	277054	+	Frame_Shift_Del	DEL	A	A	-													acttgggagctatgatccacAaaaacaacttattattgaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:277053_277053CA>C	uc002qwf.3	+	4	463	c.367_367CA>C	c.(367-369)caafs	p.Q123fs	ACP1_uc002qwg.3_Frame_Shift_Del_p.Q123fs|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	123						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CTATGATCCACAAAAACAACT	0.303													-	277054	A	-	277054	7	5	264	1	0	1	0	1	0	0	0	0	162	130	5	0	541	0	ACP1	2	277054	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08		277054	242922319	185	129703											
TPO	7173	broad.mit.edu	37	chr2	1426892	1426892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaccgccatgtacgccaCgatgcagaggtgagccttgc	13	13	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:1426892C>T	uc002qww.2	+	3	261	c.170C>T	c.(169-171)ACG>ATG	p.T57M	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.T57M|TPO_uc002qwu.2_Missense_Mutation_p.T57M|TPO_uc002qwr.2_Missense_Mutation_p.T57M|TPO_uc002qwx.2_Missense_Mutation_p.T57M|TPO_uc010yio.1_Missense_Mutation_p.T57M|TPO_uc010yip.1_Missense_Mutation_p.T57M	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	57	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	ATGTACGCCACGATGCAGAGG	0.592													T	1426892	C	T	1426892	3	4	264	1	0	0	0	0	1	0	0	0	16407	536	19	1	176	1	TPO	2	1426892	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1149838	1426892	241772481	186	129704											
RNASEH1	246243	broad.mit.edu	37	chr2	3595577	3595577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccacaaagtcctctttgtTgatcacctctttccctgcac	5	15	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:3595577T>C	uc002qxt.2	-	7	808	c.718A>G	c.(718-720)AAC>GAC	p.N240D	RNASEH1_uc002qxs.2_Missense_Mutation_p.N123D	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	240	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TCCTCTTTGTTGATCACCTCT	0.443													C	3595577	T	C	3595577	3	2	264	1	0	0	0	0	1	0	0	0	13411	1812	63	3	150	3	RNASEH1	2	3595577	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2168685	3595577	239603796	187	129705											
KIDINS220	57498	broad.mit.edu	37	chr2	8891707	8891707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaaaacacttcaaaatTtcttatatctccatcaattt	1	9	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:8891707T>C	uc002qzc.2	-	23	3261	c.3079A>G	c.(3079-3081)AAT>GAT	p.N1027D	KIDINS220_uc010yiv.1_Missense_Mutation_p.N793D|KIDINS220_uc002qzd.2_Missense_Mutation_p.N985D|KIDINS220_uc010yiw.1_Missense_Mutation_p.N1028D|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.2_Missense_Mutation_p.N32D	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1027	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTCAAAATTTCTTATATCT	0.348													C	8891707	T	C	8891707	3	2	264	1	0	0	0	0	1	0	0	0	8271	1841	64	3	2268	3	KIDINS220	2	8891707	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	5296130	8891707	234307666	188	129706											
DDX1	1653	broad.mit.edu	37	chr2	15742747	15742747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagagctactaaaggatTaatgaaaggtatttgaacag	11	3	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:15742747T>C	uc002rce.2	+	7	671	c.383T>C	c.(382-384)TTA>TCA	p.L128S	DDX1_uc010yjq.1_Missense_Mutation_p.L36S	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	128	B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				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			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	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)		ACTAAAGGATTAATGAAAGGT	0.328													C	15742747	T	C	15742747	3	2	264	1	0	0	0	0	1	0	0	0	4341	1764	61	3	409	3	DDX1	2	15742747	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	6851040	15742747	227456626	189	129707											
MFSD2B	388931	broad.mit.edu	37	chr2	24244793	24244793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactacccggcacccacccTacctgaagctggtgatctcc	7	18	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:24244793T>C	uc002reo.1	+	8	861	c.847T>C	c.(847-849)TAC>CAC	p.Y283H		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	283					transport	integral to membrane				ovary(2)	2						GCACCCACCCTACCTGAAGCT	0.622													C	24244793	T	C	24244793	3	2	264	1	0	0	0	0	1	0	0	0	9531	1522	53	3	877	3	MFSD2B	2	24244793	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	8502046	24244793	218954580	190	129708											
PFN4	375189	broad.mit.edu	37	chr2	24344166	24344166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcggacatcactgggcGttacctggagaggttacatg	14	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:24344166G>A	uc002rfa.1	-	3	298	c.122C>T	c.(121-123)ACG>ATG	p.T41M	LOC375190_uc002rew.2_Intron|LOC375190_uc010ykl.1_5'Flank	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN	profilin family, member 4	41					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCACTGGGCGTTACCTGGAG	0.299													A	24344166	G	A	24344166	3	1	264	1	0	0	0	0	1	0	0	0	11770	1145	40	1	279	1	PFN4	2	24344166	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	99373	24344166	218855207	191	129709											
ADCY3	109	broad.mit.edu	37	chr2	25141477	25141477	+	Frame_Shift_Del	DEL	T	T	-													cccggtccgggagcagccccTttttgcagagcacgaagagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:25141476_25141476CT>C	uc010ykm.2	-	0	580	c.381_381AG>G	c.(379-381)aagfs	p.K127fs	ADCY3_uc002rfs.4_Frame_Shift_Del_p.K127fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	127					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)					GGAGCAGCCCCTTTTTGCAGA	0.602													-	25141477	T	-	25141477	7	5	264	1	0	1	0	1	0	0	0	0	295	1609	56	0	3138	0	ADCY3	2	25141477	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	797311	25141477	218057896	192	129710											
DNMT3A	1788	broad.mit.edu	37	chr2	25469151	25469151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccacccacatgtccgtgTacacttctttgtagggattc	8	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:25469151T>C	uc002rgc.2	-	11	1564	c.1307A>G	c.(1306-1308)TAC>TGC	p.Y436C	DNMT3A_uc002rgd.2_Missense_Mutation_p.Y436C|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Y247C	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	436					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTCCGTGTACACTTCTTT	0.577			Mis|F|N|S		AML								C	25469151	T	C	25469151	3	2	264	1	0	0	0	0	1	0	0	0	4676	1638	57	3	1483	3	DNMT3A	2	25469151	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	327674	25469151	217730222	193	129711											
KIF3C	3797	broad.mit.edu	37	chr2	26203374	26203375	+	In_Frame_Ins	INS	-	-	CTC													catcctggatggctgccttcINStcctcctccagccgctcctt					rs1062937		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:26203373_26203374T>TCTC	uc002rgu.2	-	0	2070_2071	c.1413_1414A>GAGA	c.(1411-1416)gagaag>gaGAGAag	p.K472R	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_In_Frame_Ins_p.K472R	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	472					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)					ATGGCTGCCTTCTCCTCCTCCA	0.599													CTC	26203375	-	CTC	26203374	7	5	264	1	0	1	1	0	0	0	0	0	8302	912	32	0	1000	0	KIF3C	2	26203374	In_Frame_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	734223	26203374	216995999	194	129712											
CGREF1	10669	broad.mit.edu	37	chr2	27324216	27324217	+	Frame_Shift_Ins	INS	-	-	C													ttcttagactccagtgtttcINSccctggaagttccttggcct					rs113233839	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27324215_27324216T>TC	uc010eyr.2	-	5	1203_1204	c.1198_1199A>GA	c.(1198-1200)gaafs	p.E400fs	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Frame_Shift_Ins_p.E295fs|CGREF1_uc021vfa.1_Frame_Shift_Ins_p.E295fs|CGREF1_uc010eys.2_Frame_Shift_Ins_p.E278fs|CGREF1_uc002rir.2_Frame_Shift_Ins_p.E278fs	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	278					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCAGTGTTTCCCCTGGAAGT	0.55													C	27324217	-	C	27324216	7	5	264	1	0	1	1	0	0	0	0	0	3305	864	30	0	269	0	CGREF1	2	27324216	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1120842	27324216	215875157	195	129713											
CAD	790	broad.mit.edu	37	chr2	27456982	27456982	+	Frame_Shift_Del	DEL	C	C	-													aggtgatgcgacgctggtgaCccccccacaagatatcactg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27456982delC	uc002rji.2	+	22	3668	c.3506delC	c.(3505-3507)ACCfs	p.T1169fs	CAD_uc010eyw.2_Frame_Shift_Del_p.T1106fs	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1169	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACGCTGGTGACCCCCCCACAA	0.577													-	27456982	C	-	27456982	7	5	264	1	0	1	0	1	0	0	0	0	2565	507	18	0	3592	0	CAD	2	27456982	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	132766	27456982	215742391	196	129714											
CAD	790	broad.mit.edu	37	chr2	27460632	27460632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcgctattccttggggCctcgtctgaaaatgcaggaa	11	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27460632C>T	uc002rji.2	+	29	4772	c.4610C>T	c.(4609-4611)GCC>GTC	p.A1537V	CAD_uc010eyw.2_Missense_Mutation_p.A1474V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1537	DHOase (dihydroorotase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTCCTTGGGGCCTCGTCTGAA	0.612													T	27460632	C	T	27460632	3	4	264	1	0	0	0	0	1	0	0	0	2565	739	26	2	4724	2	CAD	2	27460632	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3650	27460632	215738741	197	129715											
TRIM54	57159	broad.mit.edu	37	chr2	27528594	27528594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtccgcggcctcatccGtcagtatggcgaccacctgg	13	16	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27528594G>A	uc002rjo.2	+	5	752	c.752G>A	c.(751-753)CGT>CAT	p.R251H	TRIM54_uc002rjn.2_Missense_Mutation_p.R293H	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	251	Potential.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCATCCGTCAGTATGGC	0.642													A	27528594	G	A	27528594	3	1	264	1	0	0	0	0	1	0	0	0	16525	1145	40	1	900	1	TRIM54	2	27528594	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	67962	27528594	215670779	198	129716											
EIF2B4	8890	broad.mit.edu	37	chr2	27591536	27591536	+	Frame_Shift_Del	DEL	T	T	-													cctacctgttgacgctctggTtttttaacaagccttctcag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27591535_27591535GT>G	uc002rjz.3	-	3	583	c.544_544AC>C	c.(544-546)ccafs	p.P182fs	EIF2B4_uc002rka.3_Frame_Shift_Del_p.P147fs|EIF2B4_uc002rkb.3_Frame_Shift_Del_p.P162fs|EIF2B4_uc002rkc.3_Frame_Shift_Del_p.P161fs|EIF2B4_uc002rke.3_Frame_Shift_Del_p.P131fs|EIF2B4_uc002rkf.1_Frame_Shift_Del_p.P131fs|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 1, mRNA.	162					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)					TGACGCTCTGGTTTTTTAACA	0.488													-	27591536	T	-	27591536	7	5	264	1	0	1	0	1	0	0	0	0	5003	1722	60	0	1124	0	EIF2B4	2	27591536	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	62942	27591536	215607837	199	129717											
NRBP1	29959	broad.mit.edu	37	chr2	27658018	27658019	+	Frame_Shift_Ins	INS	-	-	C													gctacctgcactcctgtgacINSccccccatcatccatgggaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27658017_27658018A>AC	uc002rko.3	+	7	1416_1417	c.584_585A>AC	c.(583-585)gacfs	p.D195fs	NRBP1_uc002rkp.3_Frame_Shift_Ins_p.D195fs|NRBP1_uc002rkr.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	195	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)					CACTCCTGTGACCCCCCCATCA	0.589													C	27658019	-	C	27658018	7	5	264	1	0	1	1	0	0	0	0	0	10642	506	18	0	607	0	NRBP1	2	27658018	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	66482	27658018	215541355	200	129718											
CLIP4	79745	broad.mit.edu	37	chr2	29404553	29404553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacgagctccaatgagatgGgtactgttaggtatgtgggc	14	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:29404553G>T	uc002rmv.2	+	16	2151	c.1912G>T	c.(1912-1914)GGT>TGT	p.G638C	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	638										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAATGAGATGGGTACTGTTAG	0.577													T	29404553	G	T	29404553	3	4	264	1	0	0	0	0	1	0	0	0	3535	1232	43	5	1970	5	CLIP4	2	29404553	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1746535	29404553	213794820	201	129719											
GALNT14	79623	broad.mit.edu	37	chr2	31215801	31215801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggggtcgtcaccaacgcGccactttttggcattcagat	10	11	2	1	rs145668909		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:31215801G>A	uc002rnr.2	-	2	821	c.202C>T	c.(202-204)CGC>TGC	p.R68C	GALNT14_uc002rnq.2_Missense_Mutation_p.R48C|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R33C|GALNT14_uc010ezo.1_Missense_Mutation_p.R68C|GALNT14_uc010ezp.1_Missense_Mutation_p.R39C	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	68	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TCACCAACGCGCCACTTTTTG	0.572													A	31215801	G	A	31215801	3	1	264	1	0	0	0	0	1	0	0	0	6212	1087	38	1	1512	1	GALNT14	2	31215801	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1811248	31215801	211983572	202	129720											
STRN	6801	broad.mit.edu	37	chr2	37076751	37076751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctagattccataaacGtattgaacagtcatgaccta	5	9	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:37076751G>A	uc002rpn.2	-	18	2200	c.2191C>T	c.(2191-2193)CGT>TGT	p.R731C	STRN_uc010ezx.2_Missense_Mutation_p.R694C	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	731	WD 5.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCCATAAACGTATTGAACAG	0.313													A	37076751	G	A	37076751	3	1	264	1	0	0	0	0	1	0	0	0	15328	1145	40	1	155	1	STRN	2	37076751	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5860950	37076751	206122622	203	129721											
CEBPZ	10153	broad.mit.edu	37	chr2	37455664	37455664	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggctcccttttgactattCgtcttacttttgaataagtt	7	8	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:37455664C>T	uc002rpz.2	-	2	702	c.672G>A	c.(670-672)ACG>ACA	p.T224T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	224					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TTTGACTATTCGTCTTACTTT	0.423													T	37455664	C	T	37455664	2	4	264	1	0	0	0	0	0	0	0	1	3204	871	31	1		1	CEBPZ	2	37455664	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	378913	37455664	205743709	204	129722											
CYP1B1	1545	broad.mit.edu	37	chr2	38302370	38302370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatcagtggccacgcaaaCgggcccgggggcgcggaccg	17	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:38302370C>T	uc002rqo.2	-	3	565	c.162G>A	c.(160-162)CCG>CCA	p.P54P		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	54					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	GCCACGCAAACGGGCCCGGGG	0.716													T	38302370	C	T	38302370	2	4	264	1	0	0	0	0	0	0	0	1	4151	523	19	1		1	CYP1B1	2	38302370	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	846706	38302370	204897003	205	129723											
PLEKHH2	130271	broad.mit.edu	37	chr2	43927482	43927482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcacttaagccagccacAgttaagctctgacaggatgt	10	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:43927482A>C	uc010yny.1	+	8	1468	c.1385A>C	c.(1384-1386)CAG>CCG	p.Q462P	PLEKHH2_uc002rte.3_Missense_Mutation_p.Q462P|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q461P	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	462						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCAGCCACAGTTAAGCTCT	0.433													C	43927482	A	C	43927482	3	2	264	1	0	0	0	0	1	0	0	0	12077	188	7	5	1411	5	PLEKHH2	2	43927482	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	5625112	43927482	199271891	206	129724											
PLEKHH2	130271	broad.mit.edu	37	chr2	43969914	43969914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatgccatttactgccagCgttgtgtagaaagaacgcaa	9	8	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:43969914C>T	uc010yny.1	+	22	3339	c.3256C>T	c.(3256-3258)CGT>TGT	p.R1086C		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1086	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTACTGCCAGCGTTGTGTAGA	0.353													T	43969914	C	T	43969914	3	4	264	1	0	0	0	0	1	0	0	0	12077	768	27	1	3338	1	PLEKHH2	2	43969914	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	42432	43969914	199229459	207	129725											
PPM1B	5495	broad.mit.edu	37	chr2	44428897	44428897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaatgcaggaggcagcGtgatgatacaacgtgttaat	11	7	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:44428897G>A	uc002rtt.2	+	2	987	c.559G>A	c.(559-561)GTG>ATG	p.V187M	PPM1B_uc002rts.2_Missense_Mutation_p.V187M|PPM1B_uc002rtu.2_Missense_Mutation_p.V187M|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.V187M|PPM1B_uc002rtx.2_Missense_Mutation_p.V187M	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	187					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGAGGCAGCGTGATGATACA	0.458													A	44428897	G	A	44428897	3	1	264	1	0	0	0	0	1	0	0	0	12336	1145	40	1	561	1	PPM1B	2	44428897	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	458983	44428897	198770476	208	129726											
PPM1B	5495	broad.mit.edu	37	chr2	44445212	44445212	+	Frame_Shift_Del	DEL	T	T	-													cctcctgggggaggtcttgcTggcaagtaagtagaacaaaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:44445211_44445211CT>C	uc002rtt.3	+	3	1498	c.1070_1070CT>C	c.(1069-1071)gctfs	p.A357fs	PPM1B_uc002rtu.3_Frame_Shift_Del_p.A357fs|PPM1B_uc002rtv.3_Frame_Shift_Del_p.A70fs|PPM1B_uc002rtw.3_Frame_Shift_Del_p.A357fs|PPM1B_uc002rtx.3_Frame_Shift_Del_p.A357fs	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	357					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)				GGAGGTCTTGCTGGCAAGTAA	0.383													-	44445212	T	-	44445212	7	5	264	1	0	1	0	1	0	0	0	0	12336	1567	55	0	1101	0	PPM1B	2	44445212	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	16315	44445212	198754161	209	129727											
SIX3	6496	broad.mit.edu	37	chr2	45169584	45169584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgggccgcttcctctggtCgctgcccgtggcccccgggg	16	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:45169584C>T	uc002run.1	+	1	548	c.341C>T	c.(340-342)TCG>TTG	p.S114L		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	114					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCCTCTGGTCGCTGCCCGTG	0.701													T	45169584	C	T	45169584	3	4	264	1	0	0	0	0	1	0	0	0	14348	893	31	1	343	1	SIX3	2	45169584	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	724372	45169584	198029789	210	129728											
SIX2	10736	broad.mit.edu	37	chr2	45236175	45236175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccagccgctcgatgttGccgccctgctgcagcacctc	11	19	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:45236175G>A	uc002ruo.2	-	1	368	c.75C>T	c.(73-75)GGC>GGT	p.G25G	SIX2_uc002rup.2_Silent_p.G25G	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	25						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCGATGTTGCCGCCCTGCT	0.622													A	45236175	G	A	45236175	2	1	264	1	0	0	0	0	0	0	0	1	14347	1306	46	2		2	SIX2	2	45236175	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	66591	45236175	197963198	211	129729											
TTC7A	57217	broad.mit.edu	37	chr2	47251494	47251494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcagctggccctcgtccGacaggtgggttgtccgtgtt	15	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:47251494G>A	uc002rvo.2	+	14	2005	c.1637G>A	c.(1636-1638)CGA>CAA	p.R546Q	TTC7A_uc002rvm.2_Missense_Mutation_p.R512Q|TTC7A_uc002rvn.1_Missense_Mutation_p.R427Q|TTC7A_uc010fbb.2_Missense_Mutation_p.R546Q|TTC7A_uc010fbc.2_Missense_Mutation_p.R192Q|TTC7A_uc002rvp.2_Missense_Mutation_p.R427Q|TTC7A_uc002rvq.2_Missense_Mutation_p.R286Q|TTC7A_uc002rvr.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	546	TPR 5.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCCCTCGTCCGACAGGTGGGT	0.542													A	47251494	G	A	47251494	3	1	264	1	0	0	0	0	1	0	0	0	16709	1058	37	1	1691	1	TTC7A	2	47251494	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2015319	47251494	195947879	212	129730											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	264	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	6915646	54167140	189032233	213	129731											
MTIF2	4528	broad.mit.edu	37	chr2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-													aaatatctgactcacctgtgTttttttccattgccctggcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363													-	55489457	T	-	55489457	7	5	264	1	0	1	0	1	0	0	0	0	9934	1725	60	0	1905	0	MTIF2	2	55489457	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1322317	55489457	187709916	214	129732											
CCDC88A	55704	broad.mit.edu	37	chr2	55561313	55561313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttctagttctttcagacGgacacaagattctttatata	5	7	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:55561313G>A	uc002ryv.2	-	15	3486	c.2644C>T	c.(2644-2646)CGT>TGT	p.R882C	CCDC88A_uc010yoz.1_Missense_Mutation_p.R882C|CCDC88A_uc010ypa.1_Missense_Mutation_p.R882C|CCDC88A_uc010ypb.1_Missense_Mutation_p.R784C|CCDC88A_uc002ryu.2_Missense_Mutation_p.R165C|CCDC88A_uc002ryw.2_Missense_Mutation_p.R165C	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	882	Potential.				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			ovary(2)|skin(2)	4						TCTTTCAGACGGACACAAGAT	0.303													A	55561313	G	A	55561313	3	1	264	1	0	0	0	0	1	0	0	0	2863	1116	39	1	3043	1	CCDC88A	2	55561313	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	71856	55561313	187638060	215	129733											
REL	5966	broad.mit.edu	37	chr2	61147771	61147771	+	Frame_Shift_Del	DEL	A	A	-													ttggagaaggaagatacttcAaaaaaggtattttatttcct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:61147771delA	uc002sam.1	+	10	1305	c.1081delA	c.(1081-1083)AAAfs	p.K361fs	REL_uc002san.1_Frame_Shift_Del_p.K329fs	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	361					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGATACTTCAAAAAAGGTAT	0.318			A		Hodgkin Lymphoma								-	61147771	A	-	61147771	7	5	264	1	0	1	0	1	0	0	0	0	13215	131	5	0	1119	0	REL	2	61147771	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	5586458	61147771	182051602	216	129734											
USP34	9736	broad.mit.edu	37	chr2	61468760	61468760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctctggttccatgcGtttgtaaaacagcatatatg	7	9	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:61468760G>A	uc002sbe.2	-	53	6734	c.6712C>T	c.(6712-6714)CGC>TGC	p.R2238C	USP34_uc002sbf.2_Missense_Mutation_p.R388C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2238					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GGTTCCATGCGTTTGTAAAAC	0.308													A	61468760	G	A	61468760	3	1	264	1	0	0	0	0	1	0	0	0	17062	1145	40	1	4040	1	USP34	2	61468760	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	320989	61468760	181730613	217	129735											
XPO1	7514	broad.mit.edu	37	chr2	61729421	61729421	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagatgacgtcttgataatgAggccaacaacgtattttttt	8	7	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:61729421A>T	uc002sbj.2	-	5	1054	c.326T>A	c.(325-327)CTC>CAC	p.L109H	XPO1_uc010fcl.2_Missense_Mutation_p.L105H|XPO1_uc010ypn.1_Missense_Mutation_p.L105H|XPO1_uc002sbk.2_5'UTR	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	109	Importin N-terminal.|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			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTTGATAATGAGGCCAACAAC	0.308													T	61729421	A	T	61729421	3	4	264	1	0	0	0	0	1	0	0	0	17442	304	11	5	2973	5	XPO1	2	61729421	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	260661	61729421	181469952	218	129736											
ADD2	119	broad.mit.edu	37	chr2	70910899	70910899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactggacagagccgacaCctgtagcaaagagcagagag	14	10	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:70910899C>T	uc002sgz.2	-	10	1414	c.949G>A	c.(949-951)GTG>ATG	p.V317M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V317M|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.V317M|ADD2_uc010fdt.1_Missense_Mutation_p.V317M|ADD2_uc002shc.1_Missense_Mutation_p.V317M|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.V333M	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	317					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			ovary(2)|pancreas(1)	3						AGAGCCGACACCTGTAGCAAA	0.607													T	70910899	C	T	70910899	3	4	264	1	0	0	0	0	1	0	0	0	305	521	18	4	1436	4	ADD2	2	70910899	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	9181478	70910899	172288474	219	129737											
CLEC4F	165530	broad.mit.edu	37	chr2	71043874	71043874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaagcctctgcttagcacGtggagctcaatgctggtgtt	11	10	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71043874G>A	uc002shf.2	-	4	716	c.639C>T	c.(637-639)CAC>CAT	p.H213H	CLEC4F_uc010yqv.1_Silent_p.H213H	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	213	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						TGCTTAGCACGTGGAGCTCAA	0.428													A	71043874	G	A	71043874	2	1	264	1	0	0	0	0	0	0	0	1	3516	1136	40	1		1	CLEC4F	2	71043874	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	132975	71043874	172155499	220	129738											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					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						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	264	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	147699	71191573	172007800	221	129739											
DYSF	8291	broad.mit.edu	37	chr2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgcacgctggagcccGtatttggaaagtaaattggg	12	10	0	0	rs147056383	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71887771G>A	uc002sie.2	+	44	5252	c.4876G>A	c.(4876-4878)GTA>ATA	p.V1626I	DYSF_uc010feg.2_Missense_Mutation_p.V1657I|DYSF_uc010feh.2_Missense_Mutation_p.V1633I|DYSF_uc002sig.3_Missense_Mutation_p.V1612I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.V1647I|DYSF_uc010fef.2_Missense_Mutation_p.V1664I|DYSF_uc010fei.2_Missense_Mutation_p.V1643I|DYSF_uc010fek.2_Missense_Mutation_p.V1644I|DYSF_uc010fej.2_Missense_Mutation_p.V1634I|DYSF_uc010fel.2_Missense_Mutation_p.V1613I|DYSF_uc010feo.2_Missense_Mutation_p.V1658I|DYSF_uc010fem.2_Missense_Mutation_p.V1648I|DYSF_uc010fen.2_Missense_Mutation_p.V1665I|DYSF_uc002sif.2_Missense_Mutation_p.V1627I|DYSF_uc010yqy.1_Missense_Mutation_p.V507I|DYSF_uc010yqz.1_Missense_Mutation_p.V387I	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1626	Cytoplasmic (Potential).|C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GCTGGAGCCCGTATTTGGAAA	0.507													A	71887771	G	A	71887771	3	1	264	1	0	0	0	0	1	0	0	0	4859	1145	40	1	5309	1	DYSF	2	71887771	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	696198	71887771	171311602	222	129740											
DYSF	8291	broad.mit.edu	37	chr2	71909699	71909699	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtttacctccccataCaagaccatgaagttcatcct	6	13	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71909699C>A	uc002sie.2	+	54	6472	c.6096C>A	c.(6094-6096)TAC>TAA	p.Y2032*	DYSF_uc010feg.2_Nonsense_Mutation_p.Y2063*|DYSF_uc010feh.2_Nonsense_Mutation_p.Y2039*|DYSF_uc002sig.3_Nonsense_Mutation_p.Y2018*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.Y2053*|DYSF_uc010fef.2_Nonsense_Mutation_p.Y2070*|DYSF_uc010fei.2_Nonsense_Mutation_p.Y2049*|DYSF_uc010fek.2_Nonsense_Mutation_p.Y2050*|DYSF_uc010fej.2_Nonsense_Mutation_p.Y2040*|DYSF_uc010fel.2_Nonsense_Mutation_p.Y2019*|DYSF_uc010feo.2_Nonsense_Mutation_p.Y2064*|DYSF_uc010fem.2_Nonsense_Mutation_p.Y2054*|DYSF_uc010fen.2_Nonsense_Mutation_p.Y2071*|DYSF_uc002sif.2_Nonsense_Mutation_p.Y2033*|DYSF_uc010yqy.1_Nonsense_Mutation_p.Y913*|DYSF_uc010yqz.1_Nonsense_Mutation_p.Y793*	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	2032	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCTCCCCATACAAGACCATGA	0.493													A	71909699	C	A	71909699	4	1	264	1	0	0	0	0	0	1	0	0	4859	489	17	5	6569	5	DYSF	2	71909699	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	21928	71909699	171289674	223	129741											
EXOC6B	23233	broad.mit.edu	37	chr2	72968532	72968532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttctcaatttctcggtcGtgattacggatacgagtttc	8	8	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:72968532G>A	uc010fep.2	-	2	318	c.180C>T	c.(178-180)CAC>CAT	p.H60H	EXOC6B_uc002sij.2_Silent_p.H60H	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	60	Potential.				protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						TTTCTCGGTCGTGATTACGGA	0.403													A	72968532	G	A	72968532	2	1	264	1	0	0	0	0	0	0	0	1	5309	1136	40	1		1	EXOC6B	2	72968532	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1058833	72968532	170230841	224	129742											
DUSP11	8446	broad.mit.edu	37	chr2	73994312	73994312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcatcatctggcctcaCgccttctacatcaatcaaat	4	13	6	0	rs144123904	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:73994312C>T	uc002sjp.2	-	6	700	c.658G>A	c.(658-660)GTG>ATG	p.V220M		NM_003584	NP_003575	O75319	DUS11_HUMAN	dual specificity phosphatase 11	173	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			skin(1)	1						TCTGGCCTCACGCCTTCTACA	0.274													T	73994312	C	T	73994312	3	4	264	1	0	0	0	0	1	0	0	0	4811	536	19	1	491	1	DUSP11	2	73994312	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1025780	73994312	169205061	225	129743											
ACTG2	72	broad.mit.edu	37	chr2	74143722	74143722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactaggcatggagtccGctggaattcatgagacaacc	10	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:74143722G>A	uc002sjw.2	+	8	939	c.817G>A	c.(817-819)GCT>ACT	p.A273T	ACTG2_uc010fey.2_Missense_Mutation_p.A273T|ACTG2_uc010yrn.1_Missense_Mutation_p.A230T	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	273					muscle contraction	cytoskeleton|cytosol	ATP binding				0						CATGGAGTCCGCTGGAATTCA	0.473													A	74143722	G	A	74143722	3	1	264	1	0	0	0	0	1	0	0	0	197	1087	38	1	843	1	ACTG2	2	74143722	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	149410	74143722	169055651	226	129744											
CCDC142	84865	broad.mit.edu	37	chr2	74708466	74708466	+	Frame_Shift_Del	DEL	C	C	-													atgtgggaaggctgctctgaCccccaagagctgatcccaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:74708465_74708465AC>A	uc002slr.3	-	2	1536	c.1143_1143GT>T	c.(1141-1143)ggtfs	p.G381fs	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Frame_Shift_Del_p.G381fs|CCDC142_uc002slp.2_Frame_Shift_Del_p.G381fs	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	381										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGCTGCTCTGACCCCCAAGAG	0.562													-	74708466	C	-	74708466	7	5	264	1	0	1	0	1	0	0	0	0	2776	507	18	0	1117	0	CCDC142	2	74708466	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	564744	74708466	168490907	227	129745											
HTRA2	27429	broad.mit.edu	37	chr2	74757473	74757473	+	Frame_Shift_Del	DEL	G	G	-													tggcggtggcgctgggcgctGggggggcagtgctgttgttg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:74757473delG	uc002smi.1	+	1	942	c.340delG	c.(340-342)GGGfs	p.G114fs	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Frame_Shift_Del_p.G114fs|HTRA2_uc002smk.1_Frame_Shift_Del_p.G114fs|HTRA2_uc002sml.1_Frame_Shift_Del_p.G114fs|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	114	Helical; (Potential).				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GCTGGGCGCTGGGGGGGCAGT	0.716													-	74757473	G	-	74757473	7	5	264	1	0	1	0	1	0	0	0	0	7454	1348	47	0	342	0	HTRA2	2	74757473	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	49007	74757473	168441900	228	129746											
HK2	3099	broad.mit.edu	37	chr2	75116583	75116583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgggtgtggatgggAccctctacaagctacatcct	12	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:75116583A>G	uc002snd.2	+	17	4513	c.2587A>G	c.(2587-2589)ACC>GCC	p.T863A		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	863	ATP 2 (By similarity).|Glucose-6-phosphate 2 binding.|Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						TGTGGATGGGACCCTCTACAA	0.478													G	75116583	A	G	75116583	3	3	264	1	0	0	0	0	1	0	0	0	7191	275	10	3	2653	3	HK2	2	75116583	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	359110	75116583	168082790	229	129747											
USP39	10713	broad.mit.edu	37	chr2	85848673	85848673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacacatcaatgcttatgCctgtctggtgtgtggcaagt	10	10	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:85848673C>T	uc002sqe.2	+	3	440	c.404C>T	c.(403-405)GCC>GTC	p.A135V	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Missense_Mutation_p.A57V|USP39_uc010ysv.1_Intron|USP39_uc010fgn.1_Missense_Mutation_p.A135V|USP39_uc002sqf.2_Missense_Mutation_p.A135V|USP39_uc002sqg.2_Missense_Mutation_p.A135V|USP39_uc010fgo.2_Missense_Mutation_p.A135V	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	135	UBP-type.			A -> V (in Ref. 4; BAD96572).	spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						AATGCTTATGCCTGTCTGGTG	0.368													T	85848673	C	T	85848673	3	4	264	1	0	0	0	0	1	0	0	0	17067	739	26	2	414	2	USP39	2	85848673	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	10732090	85848673	157350700	230	129748											
PROM2	150696	broad.mit.edu	37	chr2	95943229	95943229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaccgcctccttgagcTgctgcaggaggccaggtgcc	15	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:95943229T>C	uc002suh.1	+	7	1023	c.890T>C	c.(889-891)CTG>CCG	p.L297P	PROM2_uc002sui.2_Missense_Mutation_p.L297P|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.L297P|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	297	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CTCCTTGAGCTGCTGCAGGAG	0.662													C	95943229	T	C	95943229	3	2	264	1	0	0	0	0	1	0	0	0	12556	1580	55	3	916	3	PROM2	2	95943229	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	10094556	95943229	147256144	231	129749											
FAHD2A	51011	broad.mit.edu	37	chr2	96076670	96076670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatgacgtgagtgctcGtgactggcaaatgagacgta	14	8	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:96076670G>A	uc002sur.2	+	5	760	c.581G>A	c.(580-582)CGT>CAT	p.R194H	FAHD2A_uc002sus.2_Missense_Mutation_p.R194H	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	194							hydrolase activity|metal ion binding			ovary(1)	1						GTGAGTGCTCGTGACTGGCAA	0.557													A	96076670	G	A	96076670	3	1	264	1	0	0	0	0	1	0	0	0	5373	1145	40	1	595	1	FAHD2A	2	96076670	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	133441	96076670	147122703	232	129750											
C2orf55	343990	broad.mit.edu	37	chr2	99439884	99439884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctctgtctggcgccacGtcctgctgcccagagctggg	15	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:99439884G>A	uc002szf.1	-	7	1146	c.852C>T	c.(850-852)GAC>GAT	p.D284D		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	284											0						CTGGCGCCACGTCCTGCTGCC	0.706													A	99439884	G	A	99439884	2	1	264	1	0	0	0	0	0	0	0	1	2176	1136	40	1		1	C2orf55	2	99439884	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3363214	99439884	143759489	233	129751											
SLC9A2	6549	broad.mit.edu	37	chr2	103324619	103324619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagatgccgggaccaccGtgctcaatttgcagcccaga	11	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:103324619G>A	uc002tca.2	+	12	2252	c.2110G>A	c.(2110-2112)GTG>ATG	p.V704M		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	704	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CGGGACCACCGTGCTCAATTT	0.498													A	103324619	G	A	103324619	3	1	264	1	0	0	0	0	1	0	0	0	14712	1145	40	1	2156	1	SLC9A2	2	103324619	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3884735	103324619	139874754	234	129752											
GPR45	11250	broad.mit.edu	37	chr2	105858638	105858638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggggaccacttctgccGcctctcagccacgctctact	8	17	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:105858638G>A	uc002tco.1	+	1	439	c.323G>A	c.(322-324)CGC>CAC	p.R108H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	108	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CACTTCTGCCGCCTCTCAGCC	0.617													A	105858638	G	A	105858638	3	1	264	1	0	0	0	0	1	0	0	0	6696	1087	38	1	325	1	GPR45	2	105858638	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2534019	105858638	137340735	235	129753											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105915130	105915130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccagtgcacgggggcgcGctgggatatccctgcgactg	16	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:105915130G>A	uc002tcq.2	-	3	805	c.721C>T	c.(721-723)CGC>TGC	p.R241C	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.R11C|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.R241C	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	241	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)|skin(1)	2						ACGGGGGCGCGCTGGGATATC	0.502													A	105915130	G	A	105915130	3	1	264	1	0	0	0	0	1	0	0	0	15821	1087	38	1	1901	1	TGFBRAP1	2	105915130	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	56492	105915130	137284243	236	129754											
UXS1	80146	broad.mit.edu	37	chr2	106729102	106729102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgaggccagcacctacCgtgagtggctccccctggag	14	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:106729102C>T	uc002tdm.2	-	10	962	c.864G>A	c.(862-864)ACG>ACA	p.T288T	UXS1_uc002tdl.2_Silent_p.T120T|UXS1_uc002tdn.2_Silent_p.T293T|UXS1_uc002tdo.2_Silent_p.T231T|UXS1_uc010ywh.1_Silent_p.T132T	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	288	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						CAGCACCTACCGTGAGTGGCT	0.562													T	106729102	C	T	106729102	2	4	264	1	0	0	0	0	0	0	0	1	17106	666	23	1		1	UXS1	2	106729102	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	813972	106729102	136470271	237	129755											
RANBP2	5903	broad.mit.edu	37	chr2	109380652	109380652	+	Frame_Shift_Del	DEL	A	A	-													gaacgtgggattggcaatgtAaaaatactgaggcataaaac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:109380651_109380651TA>T	uc002tem.4	+	19	3782	c.3656_3656TA>T	c.(3655-3657)gtafs	p.V1219fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1219	RanBD1 1.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|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						ATTGGCAATGTAAAAATACTG	0.383													-	109380652	A	-	109380652	7	5	264	1	0	1	0	1	0	0	0	0	13028	349	13	0	3735	0	RANBP2	2	109380652	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	2651550	109380652	133818721	238	129756											
EDAR	10913	broad.mit.edu	37	chr2	109524435	109524435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcactgtcgacgctccGgctcagcagctgctcattct	8	16	5	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:109524435G>A	uc002teq.3	-	10	1275	c.844C>T	c.(844-846)CGG>TGG	p.R282W	EDAR_uc010fjn.2_Missense_Mutation_p.R314W|EDAR_uc010yws.1_Missense_Mutation_p.R314W	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	282	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						TCGACGCTCCGGCTCAGCAGC	0.622													A	109524435	G	A	109524435	3	1	264	1	0	0	0	0	1	0	0	0	4905	1115	39	1	514	1	EDAR	2	109524435	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	143783	109524435	133674938	239	129757											
SH3RF3	344558	broad.mit.edu	37	chr2	110015266	110015266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgctcagtgtgacgcAcagatcctcccaggctgcca	10	17	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:110015266A>G	uc010ywt.1	+	4	1166	c.1166A>G	c.(1165-1167)CAC>CGC	p.H389R		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	389							zinc ion binding			ovary(1)	1						AGTGTGACGCACAGATCCTCC	0.587													G	110015266	A	G	110015266	3	3	264	1	0	0	0	0	1	0	0	0	14260	159	6	3	1180	3	SH3RF3	2	110015266	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	490831	110015266	133184107	240	129758											
MALL	7851	broad.mit.edu	37	chr2	110849255	110849255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcaaggagatgagaaaCgaggtgagcgagacatacat	12	6	1	4	rs143165334	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:110849255C>T	uc002tfk.2	-	2	972	c.198G>A	c.(196-198)TCG>TCA	p.S66S	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	66	MARVEL.|Helical; (Potential).				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		AGATGAGAAACGAGGTGAGCG	0.463													T	110849255	C	T	110849255	2	4	264	1	0	0	0	0	0	0	0	1	9201	523	19	1		1	MALL	2	110849255	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	833989	110849255	132350118	241	129759											
FOXD4L1	200350	broad.mit.edu	37	chr2	114256835	114256835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcacctgctccgccaTgaacctgccaagagctgagc	10	15	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:114256835T>C	uc002tjw.3	+	1	175	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	1					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				0						TGCTCCGCCATGAACCTGCCA	0.617													C	114256835	T	C	114256835	3	2	264	1	0	0	0	0	1	0	0	0	6000	1464	51	3	4	3	FOXD4L1	2	114256835	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3407580	114256835	128942538	242	129760											
EPB41L5	57669	broad.mit.edu	37	chr2	120776745	120776745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccgagaagcacaacgcGccgccacacatattcctgca	8	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:120776745G>A	uc002tmg.2	+	2	211	c.85G>A	c.(85-87)GCC>ACC	p.A29T	EPB41L5_uc010flk.2_Missense_Mutation_p.A29T|EPB41L5_uc010fll.2_Missense_Mutation_p.A29T|EPB41L5_uc002tmh.3_Missense_Mutation_p.A29T	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	29						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AGCACAACGCGCCGCCACACA	0.488													A	120776745	G	A	120776745	3	1	264	1	0	0	0	0	1	0	0	0	5157	1087	38	1	87	1	EPB41L5	2	120776745	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6519910	120776745	122422628	243	129761											
INHBB	3625	broad.mit.edu	37	chr2	121104098	121104098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctgcgcaagctgcacGcgggcaaggtgcgcgaggac	17	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:121104098G>A	uc002tmn.2	+	1	380	c.334G>A	c.(334-336)GCG>ACG	p.A112T		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	112					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			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CAAGCTGCACGCGGGCAAGGT	0.711													A	121104098	G	A	121104098	3	1	264	1	0	0	0	0	1	0	0	0	7742	1087	38	1	336	1	INHBB	2	121104098	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	327353	121104098	122095275	244	129762											
CLASP1	23332	broad.mit.edu	37	chr2	122125358	122125359	+	Frame_Shift_Ins	INS	-	-	C													gcctccttctacttcactacINSccccccggccctcagtggca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:122125357_122125358A>AC	uc002tnc.3	-	33	4079_4080	c.3689_3690T>GT	c.(3688-3690)ggtfs	p.G1230fs	CLASP1_uc010yyv.2_Frame_Shift_Ins_p.G277fs|CLASP1_uc002tmz.3_Frame_Shift_Ins_p.G316fs|CLASP1_uc002tna.3_Frame_Shift_Ins_p.G277fs|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Frame_Shift_Ins_p.G1171fs|CLASP1_uc010yza.2_Frame_Shift_Ins_p.G1163fs|CLASP1_uc021vnl.1_Frame_Shift_Ins_p.G1169fs|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Frame_Shift_Ins_p.G67fs|CLASP1_uc002tnf.3_Frame_Shift_Ins_p.G133fs	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1231					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|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)					CTACTTCACTACCCCCCCGGCC	0.634													C	122125359	-	C	122125358	7	5	264	1	0	1	1	0	0	0	0	0	3454	507	18	0	948	0	CLASP1	2	122125358	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1021260	122125358	121074015	245	129763											
MAP3K2	10746	broad.mit.edu	37	chr2	128072426	128072426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacattctcagtaagagCgccatatgcttttaattggt	8	8	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128072426C>T	uc002toj.1	-	14	1425	c.1360G>A	c.(1360-1362)GCT>ACT	p.A454T		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	454	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TCAGTAAGAGCGCCATATGCT	0.343													T	128072426	C	T	128072426	3	4	264	1	0	0	0	0	1	0	0	0	9250	768	27	1	511	1	MAP3K2	2	128072426	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5947068	128072426	115126947	246	129764											
MYO7B	4648	broad.mit.edu	37	chr2	128347770	128347770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagccttacttcatccGctgcatcaaacctaatgagt	6	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128347770G>A	uc002top.2	+	16	2011	c.1958G>A	c.(1957-1959)CGC>CAC	p.R653H		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	653	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TACTTCATCCGCTGCATCAAA	0.532													A	128347770	G	A	128347770	3	1	264	1	0	0	0	0	1	0	0	0	10083	1087	38	1	2016	1	MYO7B	2	128347770	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	275344	128347770	114851603	247	129765											
MYO7B	4648	broad.mit.edu	37	chr2	128389313	128389313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatcctgaagcagctgaCgcacaactccaacaggtctg	9	14	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128389313C>T	uc002top.2	+	37	5209	c.5156C>T	c.(5155-5157)ACG>ATG	p.T1719M	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1719	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGCAGCTGACGCACAACTCC	0.677													T	128389313	C	T	128389313	3	4	264	1	0	0	0	0	1	0	0	0	10083	536	19	1	5298	1	MYO7B	2	128389313	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	41543	128389313	114810060	248	129766											
WDR33	55339	broad.mit.edu	37	chr2	128479496	128479496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctcttccaatttaaTgtcttcttttctgtcattca	2	10	7	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128479496T>C	uc002tpg.1	-	15	1768	c.1585A>G	c.(1585-1587)ATT>GTT	p.I529V		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	529					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCAATTTAATGTCTTCTTTT	0.368													C	128479496	T	C	128479496	3	2	264	1	0	0	0	0	1	0	0	0	17284	1464	51	3	2457	3	WDR33	2	128479496	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	90183	128479496	114719877	249	129767											
SAP130	79595	broad.mit.edu	37	chr2	128699613	128699614	+	Frame_Shift_Ins	INS	-	-	T													ttcgcttcaatttggacactINStttttgacagtcccgttctt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128699612_128699613C>CT	uc010fmd.2	-	20	3351_3352	c.3219_3220G>AG	c.(3217-3222)aaagtgfs	p.K1073fs	SAP130_uc002tpn.2_Frame_Shift_Ins_p.K798fs|SAP130_uc002tpp.2_Frame_Shift_Ins_p.K1038fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1038					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)		AATTTGGACACTTTTTTGACAG	0.431													T	128699614	-	T	128699613	7	5	264	1	0	1	1	0	0	0	0	0	13831	1606	56	0	36	0	SAP130	2	128699613	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	220117	128699613	114499760	250	129768											
SAP130	79595	broad.mit.edu	37	chr2	128750820	128750820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtaggtatgtgccgccAgtgggtatgcagaagggggg	21	5	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128750820A>G	uc002tpp.2	-	12	1628	c.1496T>C	c.(1495-1497)CTG>CCG	p.L499P	SAP130_uc002tpn.2_Missense_Mutation_p.L260P|SAP130_uc002tpo.2_Missense_Mutation_p.L244P|SAP130_uc010fmd.2_Missense_Mutation_p.L499P|SAP130_uc002tpq.1_Missense_Mutation_p.L472P	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	499					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATGTGCCGCCAGTGGGTATGC	0.453													G	128750820	A	G	128750820	3	3	264	1	0	0	0	0	1	0	0	0	13831	188	7	3	1795	3	SAP130	2	128750820	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	51207	128750820	114448553	251	129769											
CCDC74B	91409	broad.mit.edu	37	chr2	130898808	130898808	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctcttccaggtccgccttCtgggggacgtcagcttttga	11	13	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:130898808C>A	uc002tqm.1	-	4	668	c.606G>T	c.(604-606)CAG>CAT	p.Q202H	CCDC74B_uc010yzw.1_Missense_Mutation_p.Q304H|CCDC74B_uc002tqn.1_Missense_Mutation_p.Q136H	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	202											0	Colorectal(110;0.1)					GGTCCGCCTTCTGGGGGACGT	0.597													A	130898808	C	A	130898808	3	1	264	1	0	0	0	0	1	0	0	0	2848	912	32	5	556	5	CCDC74B	2	130898808	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2147988	130898808	112300565	252	129770											
TUBA3D	113457	broad.mit.edu	37	chr2	132237756	132237756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtggattacggcaagAagtccaagctagagtttgcc	11	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:132237756A>G	uc002tsu.3	+	4	597	c.490A>G	c.(490-492)AAG>GAG	p.K164E		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	164					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		TTACGGCAAGAAGTCCAAGCT	0.592													G	132237756	A	G	132237756	3	3	264	1	0	0	0	0	1	0	0	0	16744	247	9	3	504	3	TUBA3D	2	132237756	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1338948	132237756	110961617	253	129771											
GPR39	2863	broad.mit.edu	37	chr2	133174763	133174763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccttctggggaacagcGccaccattcgggtcacccag	13	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:133174763G>A	uc002ttl.2	+	1	617	c.148G>A	c.(148-150)GCC>ACC	p.A50T		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	50	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						GGGGAACAGCGCCACCATTCG	0.527													A	133174763	G	A	133174763	3	1	264	1	0	0	0	0	1	0	0	0	6693	1087	38	1	150	1	GPR39	2	133174763	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	937007	133174763	110024610	254	129772											
R3HDM1	23518	broad.mit.edu	37	chr2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaagatccggtggctcCgggacccccagtcccaacca	11	18	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:136481617C>T	uc002tuo.2	+	26	3425	c.3055C>T	c.(3055-3057)CGG>TGG	p.R1019W	R3HDM1_uc010fni.2_Missense_Mutation_p.R1018W|R3HDM1_uc002tup.2_Missense_Mutation_p.R964W|R3HDM1_uc010zbh.1_Missense_Mutation_p.R767W	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	1019							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542													T	136481617	C	T	136481617	3	4	264	1	0	0	0	0	1	0	0	0	12887	643	23	1	3149	1	R3HDM1	2	136481617	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3306854	136481617	106717756	255	129773											
SPOPL	339745	broad.mit.edu	37	chr2	139316720	139316720	+	Frame_Shift_Del	DEL	T	T	-													acaagatttacagactgcagTtttttcgtgagaggacaaga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:139316719_139316719GT>G	uc002tvh.3	+	5	1008	c.608_608GT>G	c.(607-609)agtfs	p.S203fs		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	203	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ACAGACTGCAGTTTTTTCGTG	0.343													-	139316720	T	-	139316720	7	5	264	1	0	1	0	1	0	0	0	0	15084	1722	60	0	627	0	SPOPL	2	139316720	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	2835103	139316720	103882653	256	129774											
ARHGAP15	55843	broad.mit.edu	37	chr2	144461010	144461010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagacaacaacacaagAattgaagctgtaaaatctct	6	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:144461010A>G	uc002tvm.3	+	13	1312	c.1161A>G	c.(1159-1161)AGA>AGG	p.R387R	ARHGAP15_uc002tvn.2_Silent_p.R153R	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	387	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACAACACAAGAATTGAAGCTG	0.343													G	144461010	A	G	144461010	2	3	264	1	0	0	0	0	0	0	0	1	866	243	9	3		3	ARHGAP15	2	144461010	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	5144290	144461010	98738363	257	129775											
RPRM	56475	broad.mit.edu	37	chr2	154334877	154334877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatgccgaagaccacgGtgagtgagagcacgcacatg	14	9	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:154334877G>A	uc002tyq.1	-	1	446	c.203C>T	c.(202-204)ACC>ATC	p.T68I		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	68	Helical; (Potential).				cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						GAAGACCACGGTGAGTGAGAG	0.607													A	154334877	G	A	154334877	3	1	264	1	0	0	0	0	1	0	0	0	13618	1261	44	4	130	4	RPRM	2	154334877	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9873867	154334877	88864496	258	129776											
KCNJ3	3760	broad.mit.edu	37	chr2	155555952	155555952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacctgcgcaacagccAcatggtctccgcgcagattc	11	15	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:155555952A>G	uc002tyv.1	+	1	860	c.665A>G	c.(664-666)CAC>CGC	p.H222R	KCNJ3_uc010zce.1_Missense_Mutation_p.H222R	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	222	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CGCAACAGCCACATGGTCTCC	0.622													G	155555952	A	G	155555952	3	3	264	1	0	0	0	0	1	0	0	0	8052	159	6	3	667	3	KCNJ3	2	155555952	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1221075	155555952	87643421	259	129777											
UPP2	151531	broad.mit.edu	37	chr2	158980286	158980286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgactagatggagcactGtgctccttttccagagaaaa	11	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:158980286G>A	uc002tzp.2	+	6	884	c.690G>A	c.(688-690)CTG>CTA	p.L230L	UPP2_uc002tzo.2_Silent_p.L287L	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	230					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				0						ATGGAGCACTGTGCTCCTTTT	0.468													A	158980286	G	A	158980286	2	1	264	1	0	0	0	0	0	0	0	1	17010	1364	48	4		4	UPP2	2	158980286	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3424334	158980286	84219087	260	129778											
CCDC148	130940	broad.mit.edu	37	chr2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-													tgttttttcttggcccagtaTttttttatctattgtataaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:159077217delT	uc002tzq.2	-	11	1523	c.1260delA	c.(1258-1260)AAAfs	p.K420fs	CCDC148_uc002tzr.2_Frame_Shift_Del_p.K268fs|CCDC148_uc010foh.2_Frame_Shift_Del_p.K133fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	420	Glu/Lys-rich.									ovary(2)	2						TGGCCCAGTATTTTTTTATCT	0.318													-	159077217	T	-	159077217	7	5	264	1	0	1	0	1	0	0	0	0	2782	1490	52	0	531	0	CCDC148	2	159077217	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	96931	159077217	84122156	261	129779											
SCN1A	6323	broad.mit.edu	37	chr2	166859078	166859078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttctattagttttagGcaatcagtatgattattcac	5	6	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:166859078G>A	uc010zcz.1	-	21	4173	c.4155C>T	c.(4153-4155)TGC>TGT	p.C1385C	SCN1A_uc002udo.3_Silent_p.C1265C|SCN1A_uc010fpk.2_Silent_p.C1237C	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1396	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAGTTTTAGGCAATCAGTAT	0.363													A	166859078	G	A	166859078	2	1	264	1	0	0	0	0	0	0	0	1	13914	1195	42	2		2	SCN1A	2	166859078	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7781861	166859078	76340295	262	129780											
XIRP2	129446	broad.mit.edu	37	chr2	168103737	168103737	+	Frame_Shift_Del	DEL	A	A	-													gtacataaagaaggtgtaatAaaaaaagatgctaaagctgt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:168103736_168103736TA>T	uc002udx.3	+	8	5923	c.5834_5834TA>T	c.(5833-5835)atafs	p.I1945fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.I1770fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.I1723fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1770					actin cytoskeleton organization	cell junction	actin binding	p.V1944I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGGTGTAATAAAAAAAGAT	0.388													-	168103737	A	-	168103737	7	5	264	1	0	1	0	1	0	0	0	0	17427	352	13	0	5865	0	XIRP2	2	168103737	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1244659	168103737	75095636	263	129781											
LRP2	4036	broad.mit.edu	37	chr2	170127418	170127418	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacaaacctttctcacctgtGccatcaatcttttgcttaaa	3	13	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:170127418G>C	uc002ues.2	-	16	2529	c.2316C>G	c.(2314-2316)GGC>GGG	p.G772G	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	772	LDL-receptor class B 6.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	TCTCACCTGTGCCATCAATCT	0.289													C	170127418	G	C	170127418	2	2	264	1	0	0	0	0	0	0	0	1	8956	1306	46	5		5	LRP2	2	170127418	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2023681	170127418	73071955	264	129782											
HAT1	8520	broad.mit.edu	37	chr2	172823000	172823000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgacagtctataattacTatgtgtacccagacaaaacc	5	10	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:172823000T>C	uc002uhi.2	+	7	758	c.682T>C	c.(682-684)TAT>CAT	p.Y228H	HAT1_uc010fqi.2_Missense_Mutation_p.Y63H|HAT1_uc002uhj.2_Missense_Mutation_p.Y143H	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	228					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTATAATTACTATGTGTACCC	0.423													C	172823000	T	C	172823000	3	2	264	1	0	0	0	0	1	0	0	0	6964	1522	53	3	708	3	HAT1	2	172823000	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2695582	172823000	70376373	265	129783											
ITGA6	3655	broad.mit.edu	37	chr2	173344453	173344453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaacagcgtgtggggcGcctagtgggatatggtgagc	17	7	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:173344453G>A	uc002uhp.1	+	10	1676	c.1473G>A	c.(1471-1473)GCG>GCA	p.A491A	ITGA6_uc010zdy.1_Silent_p.A372A|ITGA6_uc002uho.1_Silent_p.A491A|ITGA6_uc010fqm.1_Silent_p.A137A	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	530	Extracellular (Potential).				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			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CGTGTGGGGCGCCTAGTGGGA	0.512													A	173344453	G	A	173344453	2	1	264	1	0	0	0	0	0	0	0	1	7880	1074	38	1		1	ITGA6	2	173344453	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	521453	173344453	69854920	266	129784											
HOXD1	3231	broad.mit.edu	37	chr2	177053951	177053951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccacctcggccgtcttctCgggcggcggctctttcctcc	11	19	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:177053951C>T	uc002ukv.3	+	1	645	c.422C>T	c.(421-423)TCG>TTG	p.S141L	HOXD1_uc010fqy.2_Missense_Mutation_p.S141L|HOXD1_uc010zez.1_Missense_Mutation_p.S141L	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GCCGTCTTCTCGGGCGGCGGC	0.711													T	177053951	C	T	177053951	3	4	264	1	0	0	0	0	1	0	0	0	7318	893	31	1	424	1	HOXD1	2	177053951	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3709498	177053951	66145422	267	129785											
PDE11A	50940	broad.mit.edu	37	chr2	178494158	178494158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgtcttccttggctaCcataacactggcaggggagg	12	11	1	0	rs74326729		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:178494158C>T	uc002ulq.2	-	20	3097	c.2779G>A	c.(2779-2781)GTA>ATA	p.V927I	PDE11A_uc010zfd.1_Missense_Mutation_p.V118I|PDE11A_uc002ulp.2_Missense_Mutation_p.V483I|PDE11A_uc002ulr.2_Missense_Mutation_p.V677I|PDE11A_uc002uls.1_Missense_Mutation_p.V569I|PDE11A_uc002ult.1_Missense_Mutation_p.V677I|PDE11A_uc002ulu.1_Missense_Mutation_p.V569I	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	927					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCCTTGGCTACCATAACACTG	0.488									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				T	178494158	C	T	178494158	3	4	264	1	0	0	0	0	1	0	0	0	11631	507	18	4	26	4	PDE11A	2	178494158	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1440207	178494158	64705215	268	129786											
TTN	7273	broad.mit.edu	37	chr2	179401890	179401890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagcctccgtcatctgCgggtggtttccagctgatca	12	13	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179401890C>T	uc010zfg.1	-	305	92466	c.92242G>A	c.(92242-92244)GCA>ACA	p.A30748T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24443T|TTN_uc010zfi.1_Missense_Mutation_p.A24376T|TTN_uc010zfj.1_Missense_Mutation_p.A24251T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31675							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTCATCTGCGGGTGGTTTC	0.493													T	179401890	C	T	179401890	3	4	264	1	0	0	0	0	1	0	0	0	16732	768	27	1	8061	1	TTN	2	179401890	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	907732	179401890	63797483	269	129787											
TTN	7273	broad.mit.edu	37	chr2	179431363	179431364	+	Frame_Shift_Del	DEL	GT	GT	-													gtgtgattgaatttttagtgGtgtctacaatgtgtgcattg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179431362_179431363GGT>G	uc021vsy.1	-	274	72017_72018	c.71792_71793ACC>C	c.(71791-71793)accfs	p.T23931fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.T17626fs|TTN_uc021vta.1_Frame_Shift_Del_p.T17559fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T17434fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24858	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)			AATTTTTAGTGGTGTCTACAAT	0.45													-	179431364	GT	-	179431363	7	5	264	1	0	1	0	1	0	0	0	0	16732	1261	44	0	28631	0	TTN	2	179431363	Frame_Shift_Del	DEL	GT	TCGA-HU-A4G8-01A-11D-A25D-08	29473	179431363	63768010	270	129788											
TTN	7273	broad.mit.edu	37	chr2	179433099	179433099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagttggtgatttggcaGccccctgtatataatggagg	13	6	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179433099G>A	uc010zfg.1	-	275	70280	c.70056C>T	c.(70054-70056)GGC>GGT	p.G23352G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G17047G|TTN_uc010zfi.1_Silent_p.G16980G|TTN_uc010zfj.1_Silent_p.G16855G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24279							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTGGCAGCCCCCTGTAT	0.408													A	179433099	G	A	179433099	2	1	264	1	0	0	0	0	0	0	0	1	16732	958	34	2		2	TTN	2	179433099	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1736	179433099	63766274	271	129789											
TTN	7273	broad.mit.edu	37	chr2	179455353	179455353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtttgatgggccGgcaagcttttattggatcag	14	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179455353G>A	uc010zfg.1	-	253	53619	c.53395C>T	c.(53395-53397)CGG>TGG	p.R17799W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R11494W|TTN_uc010zfi.1_Missense_Mutation_p.R11427W|TTN_uc010zfj.1_Missense_Mutation_p.R11302W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18726							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATGGGCCGGCAAGCTTTT	0.433													A	179455353	G	A	179455353	3	1	264	1	0	0	0	0	1	0	0	0	16732	1115	39	1	47116	1	TTN	2	179455353	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	22254	179455353	63744020	272	129790											
TTN	7273	broad.mit.edu	37	chr2	179463995	179463995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgggaatcgtgtacgtgCactccttaggttcactggag	12	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179463995C>T	uc010zfg.1	-	239	49045	c.48821G>A	c.(48820-48822)TGC>TAC	p.C16274Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C9969Y|TTN_uc010zfi.1_Missense_Mutation_p.C9902Y|TTN_uc010zfj.1_Missense_Mutation_p.C9777Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17201							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTGTACGTGCACTCCTTAGG	0.423													T	179463995	C	T	179463995	3	4	264	1	0	0	0	0	1	0	0	0	16732	710	25	2	51460	2	TTN	2	179463995	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	8642	179463995	63735378	273	129791											
TTN	7273	broad.mit.edu	37	chr2	179479340	179479340	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtaattcttttgtcctGcttcagaatcatatcagcct	6	9	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179479340G>A	uc010zfg.1	-	210	41421	c.41197C>T	c.(41197-41199)CAG>TAG	p.Q13733*	uc002ump.1_RNA|TTN_uc010zfh.1_Nonsense_Mutation_p.Q7428*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q7361*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q7236*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14660							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTGTCCTGCTTCAGAATC	0.403													A	179479340	G	A	179479340	4	1	264	1	0	0	0	0	0	1	0	0	16732	1328	46	2	59200	2	TTN	2	179479340	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	15345	179479340	63720033	274	129792											
SESTD1	91404	broad.mit.edu	37	chr2	179986541	179986541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcactccttgtatgtgGtccacattttctttattttc	4	11	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179986541G>A	uc002uni.3	-	13	1548	c.1398C>T	c.(1396-1398)GAC>GAT	p.D466D	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	466	Spectrin 2.				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTGTATGTGGTCCACATTTT	0.358													A	179986541	G	A	179986541	2	1	264	1	0	0	0	0	0	0	0	1	14127	1252	44	4		4	SESTD1	2	179986541	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	507201	179986541	63212832	275	129793											
NEUROD1	4760	broad.mit.edu	37	chr2	182543335	182543335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcttctttttggggcCgcgtctcttgggcttttgat	10	10	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:182543335C>T	uc002uof.2	-	2	489	c.253G>A	c.(253-255)GGC>AGC	p.G85S	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	85					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTTTGGGGCCGCGTCTCTTG	0.398													T	182543335	C	T	182543335	3	4	264	1	0	0	0	0	1	0	0	0	10348	652	23	1	821	1	NEUROD1	2	182543335	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2556794	182543335	60656038	276	129794											
DNAJC10	54431	broad.mit.edu	37	chr2	183616508	183616508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcttgttgatttctttgCccccgtaagttatttttatc	7	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:183616508C>T	uc002uow.1	+	15	1845	c.1430C>T	c.(1429-1431)GCC>GTC	p.A477V	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.A431V|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	477	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			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GATTTCTTTGCCCCCGTAAGT	0.373													T	183616508	C	T	183616508	3	4	264	1	0	0	0	0	1	0	0	0	4629	739	26	2	1480	2	DNAJC10	2	183616508	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1073173	183616508	59582865	277	129795											
COL5A2	1290	broad.mit.edu	37	chr2	189907948	189907948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctgtcacctcggtctcCatgatcacctttgtcaccac	5	17	5	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:189907948C>T	uc002uqk.2	-	48	3675	c.3400G>A	c.(3400-3402)GGA>AGA	p.G1134R	COL5A2_uc010frx.2_Missense_Mutation_p.G710R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1134					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTCGGTCTCCATGATCACCT	0.438													T	189907948	C	T	189907948	3	4	264	1	0	0	0	0	1	0	0	0	3697	603	21	4	1127	4	COL5A2	2	189907948	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6291440	189907948	53291425	278	129796											
ANKAR	150709	broad.mit.edu	37	chr2	190592776	190592776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacgctcttatacagaaaGcatttctggaaaaatcgtta	6	8	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:190592776G>A	uc002uqw.1	+	12	2617	c.2617G>A	c.(2617-2619)GCA>ACA	p.A873T	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.A40T	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	944						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TATACAGAAAGCATTTCTGGA	0.343													A	190592776	G	A	190592776	3	1	264	1	0	0	0	0	1	0	0	0	623	971	34	2	2876	2	ANKAR	2	190592776	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	684828	190592776	52606597	279	129797											
STAT4	6775	broad.mit.edu	37	chr2	191898350	191898350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctaacaaagcccatgacaTacctaaaaatagaacatgca	5	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:191898350T>C	uc002usm.1	-	20	1972	c.1718A>G	c.(1717-1719)TAT>TGT	p.Y573C	STAT4_uc002usn.1_Missense_Mutation_p.Y573C|STAT4_uc010zgk.1_Missense_Mutation_p.Y418C|STAT4_uc002uso.2_Missense_Mutation_p.Y573C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	573	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCCCATGACATACCTAAAAAT	0.353													C	191898350	T	C	191898350	3	2	264	1	0	0	0	0	1	0	0	0	15266	1406	49	3	548	3	STAT4	2	191898350	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1305574	191898350	51301023	280	129798											
CCDC150	284992	broad.mit.edu	37	chr2	197594735	197594735	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaacctgcagaaagagatgCagatgttggctaagagccaa	11	8	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:197594735C>T	uc002utp.1	+	25	3010	c.2875C>T	c.(2875-2877)CAG>TAG	p.Q959*	CCDC150_uc010zgs.1_Nonsense_Mutation_p.Q606*	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	959											0						GAAAGAGATGCAGATGTTGGC	0.453													T	197594735	C	T	197594735	4	4	264	1	0	0	0	0	0	1	0	0	2785	711	25	2	2973	2	CCDC150	2	197594735	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5696385	197594735	45604638	281	129799											
BZW1	9689	broad.mit.edu	37	chr2	201685956	201685956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtataaagatgcacatGttgcaaaggggaagagtgtt	14	3	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:201685956G>A	uc010zhg.1	+	11	1304	c.1252G>A	c.(1252-1254)GTT>ATT	p.V418I	BZW1_uc002uwc.2_Missense_Mutation_p.V320I	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	386	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						AGATGCACATGTTGCAAAGGG	0.388													A	201685956	G	A	201685956	3	1	264	1	0	0	0	0	1	0	0	0	1578	1377	48	4	996	4	BZW1	2	201685956	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4091221	201685956	41513417	282	129800											
CASP8	841	broad.mit.edu	37	chr2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-													cagcctactttcacactaagAaaaaaacttgtcttcccttc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:202151289_202151289GA>G	uc002uxr.1	+	9	1621	c.1412_1412GA>G	c.(1411-1413)agafs	p.R471fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	471					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						TTCACACTAAGAAAAAAACTT	0.398										HNSCC(4;0.00038)			-	202151290	A	-	202151290	7	5	264	1	0	1	0	1	0	0	0	0	2677	243	9	0	1724	0	CASP8	2	202151290	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	465334	202151290	41048083	283	129801											
ALS2	57679	broad.mit.edu	37	chr2	202589068	202589068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcttatccattacccaCtggccaatgaacatactagg	6	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:202589068C>T	uc002uyo.2	-	21	3818	c.3462G>A	c.(3460-3462)CAG>CAA	p.Q1154Q	ALS2_uc002uyp.3_Silent_p.Q1154Q|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1154	MORN 5.				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			skin(5)|lung(1)|breast(1)	7						CCATTACCCACTGGCCAATGA	0.408													T	202589068	C	T	202589068	2	4	264	1	0	0	0	0	0	0	0	1	550	564	20	4		4	ALS2	2	202589068	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	437778	202589068	40610305	284	129802											
BMPR2	659	broad.mit.edu	37	chr2	203242243	203242243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtgccctggctaccaTggaccatcctgctggtcagc	14	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:203242243T>C	uc002uzf.3	+	1	1194	c.46T>C	c.(46-48)TGG>CGG	p.W16R	BMPR2_uc010ftr.2_Missense_Mutation_p.W16R|BMPR2_uc002uze.2_Missense_Mutation_p.W16R	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	16					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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						CTGGCTACCATGGACCATCCT	0.662													C	203242243	T	C	203242243	3	2	264	1	0	0	0	0	1	0	0	0	1471	1464	51	3	48	3	BMPR2	2	203242243	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	653175	203242243	39957130	285	129803											
ZDBF2	57683	broad.mit.edu	37	chr2	207174279	207174279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacacttctcatcgaaCgactcaccgactgcagaaag	9	12	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:207174279C>T	uc002vbp.2	+	5	5277	c.5027C>T	c.(5026-5028)ACG>ATG	p.T1676M		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1676							nucleic acid binding|zinc ion binding			ovary(3)	3						TCTCATCGAACGACTCACCGA	0.408													T	207174279	C	T	207174279	3	4	264	1	0	0	0	0	1	0	0	0	17596	536	19	1	5037	1	ZDBF2	2	207174279	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3932036	207174279	36025094	286	129804											
MAP2	4133	broad.mit.edu	37	chr2	210574801	210574802	+	Frame_Shift_Ins	INS	-	-	A													ctcacacaccaggaacccccINSaagtctgccatcttggtgcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:210574801_210574802insA	uc002vde.1	+	12	5144_5145	c.4896_4897insA	c.(4894-4899)CCCAAGfs	p.P1632fs	MAP2_uc002vdd.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdf.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdg.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdh.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdi.1_Frame_Shift_Ins_p.P1628fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1632_1633					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CAGGAACCCCCAAGTCTGCCAT	0.559													A	210574802	-	A	210574801	7	5	264	1	0	1	1	0	0	0	0	0	9235	581	21	0	5105	0	MAP2	2	210574801	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	3400522	210574801	32624572	287	129805	667	2									
MAP2	4133	broad.mit.edu	37	chr2	210574802	210574803	+	Frame_Shift_Ins	INS	-	-	A													tcacacaccaggaacccccaINSagtctgccatcttggtgccg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:210574801_210574802C>CA	uc002vde.1	+	11	5144_5145	c.4896_4897C>CA	c.(4894-4899)cccaagfs	p.P1632fs	MAP2_uc002vdd.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdf.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdg.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdh.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdi.1_Frame_Shift_Ins_p.P1628fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1632					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)	CAGGAACCCCCAAGTCTGCCAT	0.559													A	210574803	-	A	210574802	7	5	264	1	0	1	1	0	0	0	0	0	9235	131	5	0	5106	0	MAP2	2	210574802	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1	210574802	32624571	288	129806	667	2									
FN1	2335	broad.mit.edu	37	chr2	216240092	216240092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtggtggccaggaaaCgcaggttggatggtgcatca	18	6	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:216240092C>T	uc002vfa.2	-	38	6268	c.6002G>A	c.(6001-6003)CGT>CAT	p.R2001H	FN1_uc002vfb.2_Missense_Mutation_p.R1820H|FN1_uc002vfc.2_Missense_Mutation_p.R1820H|FN1_uc002vfd.2_Missense_Mutation_p.R2001H|FN1_uc002vfe.2_Missense_Mutation_p.R1910H|FN1_uc002vff.2_Missense_Mutation_p.R1910H|FN1_uc002vfg.2_Missense_Mutation_p.R1820H|FN1_uc002vfh.2_Missense_Mutation_p.R1820H|FN1_uc002vfi.2_Missense_Mutation_p.R2001H|FN1_uc002vfj.2_Missense_Mutation_p.R1911H|FN1_uc002vez.2_Missense_Mutation_p.R195H|FN1_uc010zjp.1_Missense_Mutation_p.R538H|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.R363H|FN1_uc010fvd.1_Missense_Mutation_p.R92H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1910	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	GGCCAGGAAACGCAGGTTGGA	0.488													T	216240092	C	T	216240092	3	4	264	1	0	0	0	0	1	0	0	0	5962	536	19	1	1467	1	FN1	2	216240092	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5665290	216240092	26959281	289	129807											
FN1	2335	broad.mit.edu	37	chr2	216288950	216288950	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagatgtccgtcctgtcGcccttctgtggtgcaggagt	12	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:216288950G>A	uc002vfa.2	-	8	1401	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*	FN1_uc002vfb.2_Nonsense_Mutation_p.R379*|FN1_uc002vfc.2_Nonsense_Mutation_p.R379*|FN1_uc002vfd.2_Nonsense_Mutation_p.R379*|FN1_uc002vfe.2_Nonsense_Mutation_p.R379*|FN1_uc002vff.2_Nonsense_Mutation_p.R379*|FN1_uc002vfg.2_Nonsense_Mutation_p.R379*|FN1_uc002vfh.2_Nonsense_Mutation_p.R379*|FN1_uc002vfi.2_Nonsense_Mutation_p.R379*|FN1_uc002vfj.2_Nonsense_Mutation_p.R379*|FN1_uc002vfl.2_Nonsense_Mutation_p.R379*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	379	Fibronectin type-II 1.|Collagen-binding.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CCGTCCTGTCGCCCTTCTGTG	0.512													A	216288950	G	A	216288950	4	1	264	1	0	0	0	0	0	1	0	0	5962	1095	38	1	6487	1	FN1	2	216288950	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	48858	216288950	26910423	290	129808											
ARPC2	10109	broad.mit.edu	37	chr2	219114643	219114643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaatgaaaacaatcAcgtaagttaggcagcacccc	7	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:219114643A>G	uc002vhd.2	+	10	989	c.877A>G	c.(877-879)ACG>GCG	p.T293A	ARPC2_uc002vhe.2_Missense_Mutation_p.T293A|ARPC2_uc002vhf.2_Missense_Mutation_p.T179A	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	293				MKTITGKTFSSR -> KI (in Ref. 6; AAF71122).	cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GAAAACAATCACGTAAGTTAG	0.552													G	219114643	A	G	219114643	3	3	264	1	0	0	0	0	1	0	0	0	971	173	6	3	911	3	ARPC2	2	219114643	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2825693	219114643	24084730	291	129809											
IHH	3549	broad.mit.edu	37	chr2	219920027	219920027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggtaccaatgcacacCctcccccggagtccagctgc	11	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:219920027C>T	uc002vjo.1	-	3	1138	c.1138G>A	c.(1138-1140)GGT>AGT	p.G380S		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	380					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		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)		CAATGCACACCCTCCCCCGGA	0.652													T	219920027	C	T	219920027	3	4	264	1	0	0	0	0	1	0	0	0	7607	623	22	4	101	4	IHH	2	219920027	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	805384	219920027	23279346	292	129810											
STK16	8576	broad.mit.edu	37	chr2	220111418	220111418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggaagggttacatgaTggacacttctacgccctgaa	11	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:220111418T>C	uc002vko.2	+	3	283	c.126T>C	c.(124-126)GAT>GAC	p.D42D	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Silent_p.D42D|STK16_uc010fwf.2_Silent_p.D42D|STK16_uc002vkp.2_Silent_p.D42D|STK16_uc002vkr.2_5'UTR|STK16_uc002vkq.2_Silent_p.D87D	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	42	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)		GGTTACATGATGGACACTTCT	0.567													C	220111418	T	C	220111418	2	2	264	1	0	0	0	0	0	0	0	1	15288	1461	51	3		3	STK16	2	220111418	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	191391	220111418	23087955	293	129811											
OBSL1	23363	broad.mit.edu	37	chr2	220432517	220432517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcctctcgggtgaccCctggaaggaccagggcatgc	13	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:220432517C>A	uc010fwk.2	-	3	1514	c.1457G>T	c.(1456-1458)GGG>GTG	p.G486V	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.G486V|OBSL1_uc002vmj.2_Missense_Mutation_p.G73V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	486					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		TCGGGTGACCCCTGGAAGGAC	0.627													A	220432517	C	A	220432517	3	1	264	1	0	0	0	0	1	0	0	0	10813	623	22	5	4461	5	OBSL1	2	220432517	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	321099	220432517	22766856	294	129812											
COL4A4	1286	broad.mit.edu	37	chr2	227872902	227872902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcatcatggggaggggCgcagcgctggccagccagta	18	10	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:227872902C>T	uc010zlt.1	-	46	5295	c.4641G>A	c.(4639-4641)GCG>GCA	p.A1547A		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1547	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		TGGGGAGGGGCGCAGCGCTGG	0.637													T	227872902	C	T	227872902	2	4	264	1	0	0	0	0	0	0	0	1	3693	755	27	1		1	COL4A4	2	227872902	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7440385	227872902	15326471	295	129813											
DNER	92737	broad.mit.edu	37	chr2	230377497	230377497	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatgagtatgtgtcgtAccaggaaggcaaacacaggt	12	8	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:230377497A>T	uc002vpv.2	-	6	1294	c.1147_splice	c.e6+1	p.G383_splice	DNER_uc010zly.1_Splice_Site_p.G111_splice	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing						central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TATGTGTCGTACCAGGAAGGC	0.358													T	230377497	A	T	230377497	5	4	264	1	0	0	0	0	0	0	1	0	4667	405	14	5	1096	5	DNER	2	230377497	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2504595	230377497	12821876	296	129814											
PDE6D	5147	broad.mit.edu	37	chr2	232597710	232597710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttacaagaagatcgtcGtcaaaaaactttgtttctat	7	7	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:232597710G>A	uc002vse.1	-	5	555	c.405C>T	c.(403-405)GAC>GAT	p.D135D		NM_002601	NP_002592	O43924	PDE6D_HUMAN	phosphodiesterase 6D	135					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		GAAGATCGTCGTCAAAAAACT	0.383													A	232597710	G	A	232597710	2	1	264	1	0	0	0	0	0	0	0	1	11648	1136	40	1		1	PDE6D	2	232597710	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2220213	232597710	10601663	297	129815											
ALPP	250	broad.mit.edu	37	chr2	233244553	233244553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgcccacacggtgaaccgCaactggtactcggacgccga	11	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:233244553C>T	uc002vsq.2	+	5	729	c.564C>T	c.(562-564)CGC>CGT	p.R188R	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	188						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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)		CGGTGAACCGCAACTGGTACT	0.637													T	233244553	C	T	233244553	2	4	264	1	0	0	0	0	0	0	0	1	548	697	25	2		2	ALPP	2	233244553	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	646843	233244553	9954820	298	129816											
USP40	55230	broad.mit.edu	37	chr2	234436178	234436178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgatactgagggcccaGgtgaagatgcaattcaaaag	12	6	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:234436178G>T	uc010zmr.1	-	12	1633	c.1633C>A	c.(1633-1635)CTG>ATG	p.L545M	USP40_uc010zmt.1_Missense_Mutation_p.L189M	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	533					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		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)		TGAGGGCCCAGGTGAAGATGC	0.388													T	234436178	G	T	234436178	3	4	264	1	0	0	0	0	1	0	0	0	17069	991	35	5	2190	5	USP40	2	234436178	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1191625	234436178	8763195	299	129817											
HJURP	55355	broad.mit.edu	37	chr2	234749733	234749733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcacttctttatctgGgactgaaagagttttgctgg	12	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:234749733G>A	uc002vvg.2	-	8	1759	c.1693C>T	c.(1693-1695)CCA>TCA	p.P565S	HJURP_uc010znd.1_Missense_Mutation_p.P504S|HJURP_uc010zne.1_Missense_Mutation_p.P473S	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	565					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			ovary(1)	1		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)		TCTTTATCTGGGACTGAAAGA	0.448													A	234749733	G	A	234749733	3	1	264	1	0	0	0	0	1	0	0	0	7189	1232	43	4	561	4	HJURP	2	234749733	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	313555	234749733	8449640	300	129818											
AGAP1	116987	broad.mit.edu	37	chr2	236649677	236649677	+	Frame_Shift_Del	DEL	C	C	-													ctgatcagagatgaagggggCcccccggaggcgcaggtgag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:236649676_236649676GC>G	uc002vvs.3	+	3	978	c.380_380GC>G	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(1)		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						GATGAAGGGGGCCCCCCGGAG	0.488													-	236649677	C	-	236649677	7	5	264	1	0	1	0	1	0	0	0	0	366	726	26	0	395	0	AGAP1	2	236649677	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1899944	236649677	6549696	301	129819											
COPS8	10920	broad.mit.edu	37	chr2	238002771	238002771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgccctggtctctcaaGcgtatacttcaatcatcgcc	6	15	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:238002771G>A	uc002vwh.2	+	5	894	c.370G>A	c.(370-372)GCG>ACG	p.A124T	COPS8_uc010fys.1_RNA|COPS8_uc002vwg.2_Missense_Mutation_p.A75T|COPS8_uc002vwi.2_Missense_Mutation_p.A124T	NM_006710	NP_006701	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8 isoform 1	124	PCI.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GGTCTCTCAAGCGTATACTTC	0.458													A	238002771	G	A	238002771	3	1	264	1	0	0	0	0	1	0	0	0	3740	971	34	2	388	2	COPS8	2	238002771	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1353094	238002771	5196602	302	129820											
ESPNL	339768	broad.mit.edu	37	chr2	239009114	239009114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggggatgtggcgacgttGgagcggctgctggaggctgg	22	6	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:239009114G>T	uc002vxq.3	+	1	164	c.54G>T	c.(52-54)TTG>TTT	p.L18F		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	18	ANK 1.									pancreas(1)	1		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)		TGGCGACGTTGGAGCGGCTGC	0.711													T	239009114	G	T	239009114	3	4	264	1	0	0	0	0	1	0	0	0	5255	1339	47	5	56	5	ESPNL	2	239009114	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1006343	239009114	4190259	303	129821											
GPC1	2817	broad.mit.edu	37	chr2	241401687	241401687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcggagagctgtacacGcagaacgcgagggccttccg	14	13	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:241401687G>A	uc002vyw.3	+	3	626	c.405G>A	c.(403-405)ACG>ACA	p.T135T		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	135					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		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)		AGCTGTACACGCAGAACGCGA	0.677													A	241401687	G	A	241401687	2	1	264	1	0	0	0	0	0	0	0	1	6597	1074	38	1		1	GPC1	2	241401687	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2392573	241401687	1797686	304	129822											
AQP12B	653437	broad.mit.edu	37	chr2	241622122	241622122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggccccgagctgcaCcgcgcccaccgcctcccggg	13	20	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:241622122C>T	uc010fzj.2	-	1	196	c.133G>A	c.(133-135)GTG>ATG	p.V45M	AQP12B_uc002vzt.2_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	aquaporin 12B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane	transporter activity				0		all_epithelial(40;1.71e-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;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)		CCGAGCTGCACCGCGCCCACC	0.687													T	241622122	C	T	241622122	3	4	264	1	0	0	0	0	1	0	0	0	825	507	18	4	802	4	AQP12B	2	241622122	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	220435	241622122	1577251	305	129823											
CHL1	10752	broad.mit.edu	37	chr3	440036	440036	+	Frame_Shift_Del	DEL	T	T	-													ttggggcgataatgatagcaTttttcaagatgtaattgaga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:440035_440035AT>A	uc003bot.3	+	24	3862	c.3220_3220AT>A	c.(3220-3222)attfs	p.I1074fs	CHL1_uc003bou.3_Frame_Shift_Del_p.I1058fs|CHL1_uc003bow.2_Frame_Shift_Del_p.I1058fs|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1058					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S1073N(1)		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)		TAATGATAGCATTTTTCAAGA	0.383													-	440036	T	-	440036	7	5	264	1	0	1	0	1	0	0	0	0	3349	1493	52	0	3311	0	CHL1	3	440036	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08		440036	197582394	306	129824											
CHL1	10752	broad.mit.edu	37	chr3	440791	440791	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacactactattattaacTgtttgctttgtgaagaggaa	7	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:440791T>G	uc003bou.2	+	25	3568	c.3297T>G	c.(3295-3297)ACT>ACG	p.T1099T	CHL1_uc003bot.2_Silent_p.T1115T|CHL1_uc003bow.1_Silent_p.T1099T|CHL1_uc011asi.1_Silent_p.T1062T	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1099	Helical; (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		TATTATTAACTGTTTGCTTTG	0.363													G	440791	T	G	440791	2	3	264	1	0	0	0	0	0	0	0	1	3349	1567	55	5		5	CHL1	3	440791	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	755	440791	197581639	307	129825											
SETMAR	6419	broad.mit.edu	37	chr3	4345101	4345101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acggccttgtgggatggcggAgtttaaggagaagcctgagg	18	6	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:4345101A>G	uc011asp.1	+	1	114	c.47A>G	c.(46-48)GAG>GGG	p.E16G	SUMF1_uc003bps.1_Intron|SETMAR_uc003bpw.3_Missense_Mutation_p.E3G|SETMAR_uc003bpy.3_5'UTR|SETMAR_uc011asq.1_Missense_Mutation_p.E3G|SETMAR_uc011asr.1_5'UTR|SETMAR_uc010hbx.2_5'Flank	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion	3	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			ovary(1)	1		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGGATGGCGGAGTTTAAGGAG	0.537								Chromatin_Structure|Direct_reversal_of_damage					G	4345101	A	G	4345101	3	3	264	1	0	0	0	0	1	0	0	0	14140	304	11	3	49	3	SETMAR	3	4345101	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3904310	4345101	193677329	308	129826											
ITPR1	3708	broad.mit.edu	37	chr3	4732998	4732999	+	Frame_Shift_Ins	INS	-	-	A													aggcagaagggaaatttattINSaaaaaatgccaagacatggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:4732998_4732999insA	uc003bqa.2	+	32	4320_4321	c.3972_3973insA	c.(3970-3975)ATTAAAfs	p.I1324fs	ITPR1_uc010hca.1_Frame_Shift_Ins_p.I1309fs|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Frame_Shift_Ins_p.I255fs	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1333_1334	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAAATTTATTAAAAAATGCCA	0.356													A	4732999	-	A	4732998	7	5	264	1	0	1	1	0	0	0	0	0	7920	1742	61	0	4117	0	ITPR1	3	4732998	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	387897	4732998	193289432	309	129827	668	2									
ITPR1	3708	broad.mit.edu	37	chr3	4732999	4733000	+	Frame_Shift_Ins	INS	-	-	A													ggcagaagggaaatttattaINSaaaaatgccaagacatggtt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:4732998_4732999T>TA	uc003bqc.3	+	30	4304_4305	c.3954_3955T>TA	c.(3952-3957)attaaafs	p.I1318fs	ITPR1_uc021wsi.1_Frame_Shift_Ins_p.I1324fs|ITPR1_uc021wsj.1_Frame_Shift_Ins_p.I1309fs|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1333					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)		GGAAATTTATTAAAAAATGCCA	0.356													A	4733000	-	A	4732999	7	5	264	1	0	1	1	0	0	0	0	0	7920	363	13	0	4118	0	ITPR1	3	4732999	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1	4732999	193289431	310	129828	668	2									
SRGAP3	9901	broad.mit.edu	37	chr3	9027576	9027576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgcctctcgagttccCgcaactcgtgcagagccgtg	11	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:9027576C>T	uc003brf.1	-	22	3603	c.2927G>A	c.(2926-2928)CGG>CAG	p.R976Q	SRGAP3_uc003brg.1_Missense_Mutation_p.R952Q	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	976	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTCGAGTTCCCGCAACTCGTG	0.642			T	RAF1	pilocytic astrocytoma								T	9027576	C	T	9027576	3	4	264	1	0	0	0	0	1	0	0	0	15146	652	23	1	376	1	SRGAP3	3	9027576	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4294577	9027576	188994854	311	129829											
SRGAP3	9901	broad.mit.edu	37	chr3	9036154	9036154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgaaggatagctcacGcggggaccgccccatgtagt	12	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:9036154G>A	uc003brf.1	-	19	2957	c.2281C>T	c.(2281-2283)CGT>TGT	p.R761C	SRGAP3_uc003brg.1_Missense_Mutation_p.R737C	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	761	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATAGCTCACGCGGGGACCGC	0.597			T	RAF1	pilocytic astrocytoma								A	9036154	G	A	9036154	3	1	264	1	0	0	0	0	1	0	0	0	15146	1087	38	1	1034	1	SRGAP3	3	9036154	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8578	9036154	188986276	312	129830											
FANCD2	2177	broad.mit.edu	37	chr3	10138154	10138154	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctaaaaaaccgggacttgCaggtaagccttggatcctgc	10	10	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:10138154C>T	uc003buw.2	+	42	4261	c.4183C>T	c.(4183-4185)CAG>TAG	p.Q1395*	FANCD2_uc003bux.1_Nonsense_Mutation_p.Q1395*|FANCD2_uc003buy.1_Nonsense_Mutation_p.Q1395*|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1395					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCGGGACTTGCAGGTAAGCCT	0.458			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	10138154	C	T	10138154	4	4	264	1	0	0	0	0	0	1	0	0	5665	711	25	2	4345	2	FANCD2	3	10138154	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1102000	10138154	187884276	313	129831											
C3orf31	132001	broad.mit.edu	37	chr3	11851061	11851061	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttccacatctctgttTtttccaggagggtccataat	7	10	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:11851061T>C	uc003bwh.2	-	6	1046	c.804A>G	c.(802-804)AAA>AAG	p.K268K	C3orf31_uc003bwj.2_Silent_p.K268K|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Silent_p.K268K	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	268					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						CATCTCTGTTTTTTCCAGGAG	0.413													C	11851061	T	C	11851061	2	2	264	1	0	0	0	0	0	0	0	1	2221	1838	64	3		3	C3orf31	3	11851061	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1712907	11851061	186171369	314	129832											
NUP210	23225	broad.mit.edu	37	chr3	13393426	13393426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccttgacaacatctgCggtgctggtgttgaggaaga	14	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:13393426C>T	uc003bxv.1	-	20	2871	c.2788G>A	c.(2788-2790)GCA>ACA	p.A930T	NUP210_uc003bxw.2_Missense_Mutation_p.A106T|NUP210_uc003bxx.2_Missense_Mutation_p.A602T	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	930	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ACAACATCTGCGGTGCTGGTG	0.602													T	13393426	C	T	13393426	3	4	264	1	0	0	0	0	1	0	0	0	10760	768	27	1	2959	1	NUP210	3	13393426	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1542365	13393426	184629004	315	129833											
EAF1	85403	broad.mit.edu	37	chr3	15475880	15475880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcagtaaaatccagGcccgaatggaacagcagccc	12	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:15475880G>A	uc003bzu.2	+	4	584	c.361G>A	c.(361-363)GCC>ACC	p.A121T	EAF1_uc011avq.1_Missense_Mutation_p.A20T	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						TAAAATCCAGGCCCGAATGGA	0.438													A	15475880	G	A	15475880	3	1	264	1	0	0	0	0	1	0	0	0	4875	1203	42	2	375	2	EAF1	3	15475880	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2082454	15475880	182546550	316	129834											
COLQ	8292	broad.mit.edu	37	chr3	15497436	15497436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccacatcgctgttacCgtcgtcacactcctccccag	6	19	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:15497436C>T	uc003bzx.2	-	15	1291	c.1165G>A	c.(1165-1167)GGT>AGT	p.G389S	COLQ_uc003bzv.2_Missense_Mutation_p.G379S|COLQ_uc003bzz.2_Missense_Mutation_p.G380S|COLQ_uc010heo.2_Missense_Mutation_p.G355S|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.G248S|COLQ_uc003cad.1_RNA	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	389					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft					0						TCGCTGTTACCGTCGTCACAC	0.637													T	15497436	C	T	15497436	3	4	264	1	0	0	0	0	1	0	0	0	3713	652	23	1	214	1	COLQ	3	15497436	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	21556	15497436	182524994	317	129835											
OXNAD1	92106	broad.mit.edu	37	chr3	16336481	16336482	+	Frame_Shift_Ins	INS	-	-	C													gaaatatacgaaccaccctcINSctgccctctgggttcacaat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:16336480_16336481T>TC	uc011awb.2	+	4	582_583	c.462_463T>TC	c.(460-465)cctcctfs	p.P154fs	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Frame_Shift_Ins_p.P136fs|OXNAD1_uc003cax.3_Frame_Shift_Ins_p.P136fs	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	136	FAD-binding FR-type.						oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						CGAACCACCCTCCTGCCCTCTG	0.465													C	16336482	-	C	16336481	7	5	264	1	0	1	1	0	0	0	0	0	11333	855	30	0	423	0	OXNAD1	3	16336481	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	839045	16336481	181685949	318	129836											
PLCL2	23228	broad.mit.edu	37	chr3	17053062	17053062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtctccttcttcagcGccaatacaaaagactctgtc	8	12	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:17053062G>A	uc011awc.1	+	5	2305	c.2200G>A	c.(2200-2202)GCC>ACC	p.A734T	PLCL2_uc011awd.1_Missense_Mutation_p.A616T	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	742	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						CTTCTTCAGCGCCAATACAAA	0.502													A	17053062	G	A	17053062	3	1	264	1	0	0	0	0	1	0	0	0	12040	1087	38	1	2224	1	PLCL2	3	17053062	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	716581	17053062	180969368	319	129837											
EFHB	151651	broad.mit.edu	37	chr3	19921203	19921205	+	In_Frame_Del	DEL	CTC	CTC	-													gatgttctcaacacaaacttCtcctctgtgatgcttttttg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:19921202_19921204TCTC>T	uc003cbl.4	-	12	2617_2619	c.2421_2423GAGA>A	c.(2419-2424)ggagaa>ggAa	p.E808del	EFHB_uc003cbm.3_In_Frame_Del_p.E678del	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	808					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AACACAAACTTCTCCTCTGTGAT	0.36													-	19921205	CTC	-	19921203	7	5	264	1	0	1	0	1	0	0	0	0	4945	922	32	0	83	0	EFHB	3	19921203	In_Frame_Del	DEL	CTC	TCGA-HU-A4G8-01A-11D-A25D-08	2868141	19921203	178101227	320	129838											
RPL15	6138	broad.mit.edu	37	chr3	23959968	23959968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcgtgttcgccgtggtggCcgaaaacgcccagttcctaa	11	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:23959968C>T	uc003ccn.2	+	3	246	c.210C>T	c.(208-210)GGC>GGT	p.G70G	NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Silent_p.G70G|RPL15_uc011awj.1_Silent_p.G70G|RPL15_uc003cco.2_Silent_p.G70G|RPL15_uc003ccp.2_Silent_p.G70G|RPL15_uc003ccq.2_Silent_p.G70G|RPL15_uc003ccr.2_Silent_p.G70G	NM_002948	NP_002939	P61313	RL15_HUMAN	ribosomal protein L15	70					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			ovary(1)	1						GCCGTGGTGGCCGAAAACGCC	0.468													T	23959968	C	T	23959968	2	4	264	1	0	0	0	0	0	0	0	1	13562	726	26	2		2	RPL15	3	23959968	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4038765	23959968	174062462	321	129839											
NR1D2	9975	broad.mit.edu	37	chr3	23996272	23996272	+	Frame_Shift_Del	DEL	A	A	-													tcgagtgcacctgggatgacAaaaagtcatagtggtgtgac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:23996271_23996271CA>C	uc003ccs.2	+	1	579	c.260_260CA>C	c.(259-261)acafs	p.T87fs	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Frame_Shift_Del_p.T12fs	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	87					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						CCTGGGATGACAAAAAGTCAT	0.368													-	23996272	A	-	23996272	7	5	264	1	0	1	0	1	0	0	0	0	10616	117	5	0	267	0	NR1D2	3	23996272	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	36304	23996272	174026158	322	129840											
CMTM7	112616	broad.mit.edu	37	chr3	32483485	32483485	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctaccgcgtgctcaccTgtatcagctggcccctgtcg	10	16	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:32483485T>C	uc003cey.1	+	2	549	c.313T>C	c.(313-315)TGT>CGT	p.C105R	CMTM7_uc003cez.1_Missense_Mutation_p.C105R	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	105	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						CGTGCTCACCTGTATCAGCTG	0.527													C	32483485	T	C	32483485	3	2	264	1	0	0	0	0	1	0	0	0	3588	1580	55	3	319	3	CMTM7	3	32483485	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	8487213	32483485	165538945	323	129841											
SCN5A	6331	broad.mit.edu	37	chr3	38592960	38592960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggcccctcggatcagtcTgaggatgcggcctattcggg	14	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:38592960T>C	uc003cio.2	-	28	5097	c.4903A>G	c.(4903-4905)AGA>GGA	p.R1635G	SCN5A_uc003cin.2_Missense_Mutation_p.R1634G|SCN5A_uc003cil.3_Missense_Mutation_p.R1635G|SCN5A_uc010hhi.2_Missense_Mutation_p.R1617G|SCN5A_uc010hhk.2_Missense_Mutation_p.R1602G|SCN5A_uc011ayr.1_Missense_Mutation_p.R1581G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1635	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CGGATCAGTCTGAGGATGCGG	0.597													C	38592960	T	C	38592960	3	2	264	1	0	0	0	0	1	0	0	0	13922	1588	55	3	1151	3	SCN5A	3	38592960	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	6109475	38592960	159429470	324	129842											
ULK4	54986	broad.mit.edu	37	chr3	41979677	41979677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttgtgttttatttcacGggtgagacggacctataaaa	9	6	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:41979677G>A	uc003ckv.3	-	3	352	c.151C>T	c.(151-153)CGT>TGT	p.R51C	ULK4_uc003ckw.2_Missense_Mutation_p.R51C|ULK4_uc003ckx.1_Missense_Mutation_p.R51C	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	51	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTTATTTCACGGGTGAGACGG	0.313													A	41979677	G	A	41979677	3	1	264	1	0	0	0	0	1	0	0	0	16975	1116	39	1	3816	1	ULK4	3	41979677	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3386717	41979677	156042753	325	129843											
SNRK	54861	broad.mit.edu	37	chr3	43345219	43345219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagctcactacaagctGtggatctcttgcatattccg	9	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:43345219G>A	uc003cms.3	+	3	856	c.524G>A	c.(523-525)TGT>TAT	p.C175Y	SNRK_uc003cmt.3_Missense_Mutation_p.C175Y|SNRK_uc010hik.2_Missense_Mutation_p.C175Y|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Missense_Mutation_p.C175Y	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	175	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ACTACAAGCTGTGGATCTCTT	0.433													A	43345219	G	A	43345219	3	1	264	1	0	0	0	0	1	0	0	0	14851	1377	48	4	526	4	SNRK	3	43345219	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1365542	43345219	154677211	326	129844											
ZNF197	10168	broad.mit.edu	37	chr3	44673683	44673683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgctcctaacagcccagCcccaggtaaggtttgcatcc	8	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:44673683C>T	uc003cnm.2	+	4	843	c.637C>T	c.(637-639)CCC>TCC	p.P213S	ZNF197_uc003cnn.2_Missense_Mutation_p.P213S|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.P213S	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	213					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AACAGCCCAGCCCCAGGTAAG	0.512													T	44673683	C	T	44673683	3	4	264	1	0	0	0	0	1	0	0	0	17756	739	26	2	647	2	ZNF197	3	44673683	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1328464	44673683	153348747	327	129845											
ZNF35	7584	broad.mit.edu	37	chr3	44700763	44700764	+	Frame_Shift_Ins	INS	-	-	A													caaaaaatccactccttagaINSaaaaacttttaagtgcaatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:44700762_44700763G>GA	uc003cnq.3	+	3	1128_1129	c.907_908G>GA	c.(907-909)gaafs	p.E303fs	ZNF35_uc003cnr.3_Frame_Shift_Ins_p.E143fs	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	303					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACTCCTTAGAAAAAACTTTT	0.391													A	44700764	-	A	44700763	7	5	264	1	0	1	1	0	0	0	0	0	17859	246	9	0	918	0	ZNF35	3	44700763	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	27080	44700763	153321667	328	129846											
ZNF35	7584	broad.mit.edu	37	chr3	44700823	44700823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagctcacaacttgctcGgcaccagaaagtccacatta	6	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:44700823G>A	uc003cnq.2	+	4	1189	c.968G>A	c.(967-969)CGG>CAG	p.R323Q	ZNF35_uc003cnr.2_Missense_Mutation_p.R163Q	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	323	C2H2-type 4.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CAACTTGCTCGGCACCAGAAA	0.388													A	44700823	G	A	44700823	3	1	264	1	0	0	0	0	1	0	0	0	17859	1116	39	1	978	1	ZNF35	3	44700823	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	60	44700823	153321607	329	129847											
PTPN23	25930	broad.mit.edu	37	chr3	47452588	47452588	+	Frame_Shift_Del	DEL	C	C	-													cctggtccggtaccccctcgCcccccagcagcagaaccacc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:47452588delC	uc003crf.1	+	20	3396	c.3300delC	c.(3298-3300)CGCfs	p.R1100fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.R1065fs|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Frame_Shift_Del_p.R970fs|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1100	Pro-rich.|His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCCCCTCGCCCCCCAGCAG	0.692													-	47452588	C	-	47452588	7	5	264	1	0	1	0	1	0	0	0	0	12788	726	26	0	3378	0	PTPN23	3	47452588	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	2751765	47452588	150569842	330	129848											
PLXNB1	5364	broad.mit.edu	37	chr3	48455369	48455369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggcaggggctgctccaCggggggctcgcagtacaggt	18	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:48455369C>T	uc003csw.2	-	22	4591	c.4321G>A	c.(4321-4323)GTG>ATG	p.V1441M	PLXNB1_uc003cst.2_Translation_Start_Site|PLXNB1_uc003csu.2_Missense_Mutation_p.V1258M|PLXNB1_uc003csx.2_Missense_Mutation_p.V1441M|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1441	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGCTCCACGGGGGGCTCG	0.652													T	48455369	C	T	48455369	3	4	264	1	0	0	0	0	1	0	0	0	12123	536	19	1	2154	1	PLXNB1	3	48455369	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1002781	48455369	149567061	331	129849											
CELSR3	1951	broad.mit.edu	37	chr3	48694482	48694482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caactgctcctgcagctcctCggagctgaaccagggccctg	11	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:48694482C>T	uc003cul.2	-	2	4329	c.4048G>A	c.(4048-4050)GAG>AAG	p.E1350K	CELSR3_uc003cuf.1_Missense_Mutation_p.E1420K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1350	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCAGCTCCTCGGAGCTGAAC	0.687													T	48694482	C	T	48694482	3	4	264	1	0	0	0	0	1	0	0	0	3223	893	31	1	6026	1	CELSR3	3	48694482	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	239113	48694482	149327948	332	129850											
IMPDH2	3615	broad.mit.edu	37	chr3	49063765	49063765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatattcttaccttcctgcGtaatgcagatggagccactt	8	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49063765G>A	uc003cvt.2	-	9	1090	c.998C>T	c.(997-999)ACG>ATG	p.T333M		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	333		Inhibitor.			GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				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)	ACCTTCCTGCGTAATGCAGAT	0.542													A	49063765	G	A	49063765	3	1	264	1	0	0	0	0	1	0	0	0	7727	1145	40	1	570	1	IMPDH2	3	49063765	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	369283	49063765	148958665	333	129851											
LAMB2	3913	broad.mit.edu	37	chr3	49166502	49166502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtggtccaggaagggcCggaagtagccaggttgcacc	16	9	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49166502C>T	uc003cwe.2	-	13	1981	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	LAMB2_uc003cwf.1_Missense_Mutation_p.R561Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	561	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGAAGGGCCGGAAGTAGCC	0.622													T	49166502	C	T	49166502	3	4	264	1	0	0	0	0	1	0	0	0	8611	652	23	1	3794	1	LAMB2	3	49166502	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	102737	49166502	148855928	334	129852											
DAG1	1605	broad.mit.edu	37	chr3	49568441	49568441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccacagtgagctgcagtCggtgaggacagcctccccag	13	13	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49568441C>T	uc003cxc.3	+	3	915	c.497C>T	c.(496-498)TCG>TTG	p.S166L		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	166	Required for laminin recognition.				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTGCAGTCGGTGAGGACA	0.597													T	49568441	C	T	49568441	3	4	264	1	0	0	0	0	1	0	0	0	4225	893	31	1	503	1	DAG1	3	49568441	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	401939	49568441	148453989	335	129853											
APEH	327	broad.mit.edu	37	chr3	49719319	49719319	+	Splice_Site	DEL	G	G	-													ccctccgctccctgtctgcaGgggggccccattcatccttt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49719318_49719318AG>A	uc010hkw.1	+	17	1923	c.1523_splice	c.e17-2	p.G508_splice	APEH_uc003cxf.3_Splice_Site_p.G508_splice	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	508					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)		CCCTGTCTGCAGGGGGGCCCC	0.607													-	49719319	G	-	49719319	8	5	264	1	0	1	0	1	0	0	1	0	768	1014	35	0	1588	0	APEH	3	49719319	Splice_Site	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	150878	49719319	148303111	336	129854											
APEH	327	broad.mit.edu	37	chr3	49719798	49719798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaactatcgtggctccAcgggctttggccaggacagc	13	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49719798A>G	uc003cxf.2	+	18	2021	c.1621A>G	c.(1621-1623)ACG>GCG	p.T541A	APEH_uc010hkw.1_Missense_Mutation_p.T541A	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	541					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGTGGCTCCACGGGCTTTGG	0.597													G	49719798	A	G	49719798	3	3	264	1	0	0	0	0	1	0	0	0	768	159	6	3	1691	3	APEH	3	49719798	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	479	49719798	148302632	337	129855											
MST1	4485	broad.mit.edu	37	chr3	49723511	49723511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctggggccgcacgtcGtctgtacaacgccggatctg	12	15	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49723511G>A	uc003cxg.2	-	9	1203	c.1131C>T	c.(1129-1131)GAC>GAT	p.D377D	MST1_uc011bcs.1_Missense_Mutation_p.T416M|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	363					proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCGCACGTCGTCTGTACAAC	0.697													A	49723511	G	A	49723511	2	1	264	1	0	0	0	0	0	0	0	1	9890	1136	40	1		1	MST1	3	49723511	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3713	49723511	148298919	338	129856											
RBM6	10180	broad.mit.edu	37	chr3	50005145	50005146	+	Frame_Shift_Ins	INS	-	-	G													ggacctggacatgatttcagINSggggggagatttttcgtctt					rs141234052		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50005144_50005145A>AG	uc003cyc.3	+	2	534_535	c.286_287A>AG	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					RNA processing	nucleus	DNA binding|RNA binding|nucleotide 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)		ACATGATTTCAGGGGGGGAGAT	0.495													G	50005146	-	G	50005145	7	5	264	1	0	1	1	0	0	0	0	0	13144	1000	35	0	293	0	RBM6	3	50005145	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	281634	50005145	148017285	339	129857											
RBM6	10180	broad.mit.edu	37	chr3	50095924	50095924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgccttactactgccaacGtccgtatcatcaagaacaga	6	14	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50095924G>A	uc003cyc.2	+	10	2192	c.2059G>A	c.(2059-2061)GTC>ATC	p.V687I	RBM6_uc010hlc.1_Missense_Mutation_p.V206I|RBM6_uc003cyd.2_Missense_Mutation_p.V165I|RBM6_uc003cye.2_Missense_Mutation_p.V165I|RBM6_uc011bdi.1_Missense_Mutation_p.V29I|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	687					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TACTGCCAACGTCCGTATCAT	0.507													A	50095924	G	A	50095924	3	1	264	1	0	0	0	0	1	0	0	0	13144	1145	40	1	2093	1	RBM6	3	50095924	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	90779	50095924	147926506	340	129858											
SLC38A3	10991	broad.mit.edu	37	chr3	50252140	50252140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacctcagcaatgccatcaTgggcagcggcatcctgggac	11	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50252140T>C	uc003cyn.3	+	4	380	c.239T>C	c.(238-240)ATG>ACG	p.M80T	SLC38A3_uc011bdl.1_Missense_Mutation_p.W80R|SLC38A3_uc011bdm.1_Missense_Mutation_p.M11T	NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	80					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AATGCCATCATGGGCAGCGGC	0.552													C	50252140	T	C	50252140	3	2	264	1	0	0	0	0	1	0	0	0	14605	1464	51	3	249	3	SLC38A3	3	50252140	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	156216	50252140	147770290	341	129859											
GNAI2	2771	broad.mit.edu	37	chr3	50294216	50294216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccactgctttgagggcGtcacagccatcatcttctgc	10	13	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50294216G>A	uc003cyq.1	+	6	776	c.655G>A	c.(655-657)GTC>ATC	p.V219I	GNAI2_uc003cyo.1_Missense_Mutation_p.V203I|GNAI2_uc003cyp.1_Missense_Mutation_p.V203I|GNAI2_uc010hlg.1_Missense_Mutation_p.V138I|GNAI2_uc011bdn.1_Missense_Mutation_p.V182I|GNAI2_uc003cyr.1_Missense_Mutation_p.V138I	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	219					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			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTTTGAGGGCGTCACAGCCAT	0.552													A	50294216	G	A	50294216	3	1	264	1	0	0	0	0	1	0	0	0	6505	1145	40	1	688	1	GNAI2	3	50294216	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	42076	50294216	147728214	342	129860											
IFRD2	7866	broad.mit.edu	37	chr3	50326272	50326272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaagtagagcgctggcGccgacgatcagccttggcac	15	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50326272G>A	uc011bdp.1	-	9	1303	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C	IFRD2_uc003czb.2_Missense_Mutation_p.R494C	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	392							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGCGCTGGCGCCGACGATCA	0.597													A	50326272	G	A	50326272	3	1	264	1	0	0	0	0	1	0	0	0	7554	1087	38	1	362	1	IFRD2	3	50326272	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	32056	50326272	147696158	343	129861											
HYAL1	3373	broad.mit.edu	37	chr3	50339708	50339708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctagctggtcattttggGcacggatgcctgatgggcac	13	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50339708G>A	uc003czp.2	-	2	812	c.680C>T	c.(679-681)GCC>GTC	p.A227V	HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.A45V|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.A227V|HYAL1_uc003czr.2_Missense_Mutation_p.A227V|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.A227V|HYAL1_uc003czt.2_Missense_Mutation_p.A227V	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	227						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GTCATTTTGGGCACGGATGCC	0.602													A	50339708	G	A	50339708	3	1	264	1	0	0	0	0	1	0	0	0	7463	1203	42	2	639	2	HYAL1	3	50339708	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	13436	50339708	147682722	344	129862											
GRM2	2912	broad.mit.edu	37	chr3	51746849	51746849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggctgtcctgttcaccCgttctgaggatgcccgggag	15	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:51746849C>T	uc010hlv.2	+	3	1050	c.811C>T	c.(811-813)CGT>TGT	p.R271C	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	271	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	CCTGTTCACCCGTTCTGAGGA	0.667													T	51746849	C	T	51746849	3	4	264	1	0	0	0	0	1	0	0	0	6797	652	23	1	817	1	GRM2	3	51746849	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1407141	51746849	146275581	345	129863											
ACY1	95	broad.mit.edu	37	chr3	52022841	52022841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaccgctatatccgcgCggtgagccacttgcatatag	10	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:52022841C>T	uc003dcp.2	+	14	1122	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	ACY1_uc011bea.1_Missense_Mutation_p.A444V|ACY1_uc003dcq.2_Missense_Mutation_p.A354V	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	354					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				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)	TATATCCGCGCGGTGAGCCAC	0.537													T	52022841	C	T	52022841	3	4	264	1	0	0	0	0	1	0	0	0	226	782	27	1	1111	1	ACY1	3	52022841	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	275992	52022841	145999589	346	129864											
PBRM1	55193	broad.mit.edu	37	chr3	52651369	52651369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcatatttgtcattgCggatgttatgctcaattatt	7	8	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:52651369C>T	uc003des.2	-	14	1739	c.1727G>A	c.(1726-1728)CGC>CAC	p.R576H	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R576H|PBRM1_uc003der.2_Missense_Mutation_p.R544H|PBRM1_uc003det.2_Missense_Mutation_p.R591H|PBRM1_uc003deu.2_Missense_Mutation_p.R591H|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R576H|PBRM1_uc010hmk.1_Missense_Mutation_p.R576H|PBRM1_uc003dey.2_Missense_Mutation_p.R576H|PBRM1_uc003dez.1_Missense_Mutation_p.R576H|PBRM1_uc003dfb.1_Missense_Mutation_p.R489H|PBRM1_uc003dfc.2_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	576	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			kidney(136)|breast(4)	140				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)		TTTGTCATTGCGGATGTTATG	0.408			Mis|N|F|S|D|O		clear cell renal carcinoma|breast								T	52651369	C	T	52651369	3	4	264	1	0	0	0	0	1	0	0	0	11491	768	27	1	3241	1	PBRM1	3	52651369	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	628528	52651369	145371061	347	129865											
NEK4	6787	broad.mit.edu	37	chr3	52799920	52799920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctttccttcaataatccGataaactaaagaattcatat	2	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:52799920G>A	uc003dfq.3	-	4	838	c.649C>T	c.(649-651)CGG>TGG	p.R217W	NEK4_uc011bej.1_Missense_Mutation_p.R128W|NEK4_uc003dfr.2_Missense_Mutation_p.R217W	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	217	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCAATAATCCGATAAACTAAA	0.328													A	52799920	G	A	52799920	3	1	264	1	0	0	0	0	1	0	0	0	10326	1057	37	1	1928	1	NEK4	3	52799920	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	148551	52799920	145222510	348	129866											
TKT	7086	broad.mit.edu	37	chr3	53263294	53263294	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacaccctggctaaactcAccgatggaaacgccgcagtg	9	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:53263294A>G	uc003dgo.2	-	9	1374	c.1264_splice	c.e9+1	p.G422_splice	TKT_uc003dgp.2_Splice_Site_p.G54_splice|TKT_uc011beo.1_Splice_Site_p.G375_splice|TKT_uc003dgq.2_Splice_Site_p.G422_splice|TKT_uc011beq.1_Splice_Site_p.G430_splice|TKT_uc011ber.1_Splice_Site_p.G224_splice|TKT_uc011bep.1_Splice_Site_p.G339_splice	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1						energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		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)	GGCTAAACTCACCGATGGAAA	0.597													G	53263294	A	G	53263294	5	3	264	1	0	0	0	0	0	0	1	0	15931	173	6	3	629	3	TKT	3	53263294	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	463374	53263294	144759136	349	129867											
FLNB	2317	broad.mit.edu	37	chr3	58140568	58140568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggaggcctctccatcGctgttgagggccccagtaag	14	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:58140568G>A	uc003djj.2	+	40	6850	c.6685G>A	c.(6685-6687)GCT>ACT	p.A2229T	FLNB_uc010hne.2_Missense_Mutation_p.A2260T|FLNB_uc003djk.2_Missense_Mutation_p.A2218T|FLNB_uc010hnf.2_Missense_Mutation_p.A2205T|FLNB_uc003djl.2_Missense_Mutation_p.A2049T|FLNB_uc003djm.2_Missense_Mutation_p.A2036T	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2229	Interaction with INPPL1.|Filamin 21.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTCTCCATCGCTGTTGAGGG	0.537													A	58140568	G	A	58140568	3	1	264	1	0	0	0	0	1	0	0	0	5934	1087	38	1	6940	1	FLNB	3	58140568	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4877274	58140568	139881862	350	129868											
FLNB	2317	broad.mit.edu	37	chr3	58141758	58141758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctggtgccggtcatcGcaccctccgacgacgcccgc	10	20	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:58141758G>A	uc003djj.2	+	41	7009	c.6844G>A	c.(6844-6846)GCA>ACA	p.A2282T	FLNB_uc010hne.2_Missense_Mutation_p.A2313T|FLNB_uc003djk.2_Missense_Mutation_p.A2271T|FLNB_uc010hnf.2_Missense_Mutation_p.A2258T|FLNB_uc003djl.2_Missense_Mutation_p.A2102T|FLNB_uc003djm.2_Missense_Mutation_p.A2089T	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2282	Filamin 22.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCGGTCATCGCACCCTCCGA	0.572													A	58141758	G	A	58141758	3	1	264	1	0	0	0	0	1	0	0	0	5934	1087	38	1	7103	1	FLNB	3	58141758	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1190	58141758	139880672	351	129869											
FEZF2	55079	broad.mit.edu	37	chr3	62358229	62358229	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaccgccgccgccgccTccgccgccgcccgcccggag	12	26	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:62358229T>G	uc003dlh.2	-	1	522	c.315A>C	c.(313-315)GGA>GGC	p.G105G	FEZF2_uc003dli.2_Silent_p.G105G	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	105	Gly-rich.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		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)		cgccgccgcctccgccgccgc	0.502													G	62358229	T	G	62358229	2	3	264	1	0	0	0	0	0	0	0	1	5826	1538	54	5		5	FEZF2	3	62358229	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4216471	62358229	135664201	352	129870											
C3orf64	285203	broad.mit.edu	37	chr3	69026835	69026835	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatacgtggtctgcagcctgAaggacaagatacataaattc	9	8	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:69026835A>T	uc003dnl.2	-	18	1923	c.1518T>A	c.(1516-1518)CTT>CTA	p.L506L	C3orf64_uc003dnj.2_Silent_p.L185L|C3orf64_uc003dnk.2_Silent_p.L422L|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	506						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		CTGCAGCCTGAAGGACAAGAT	0.428													T	69026835	A	T	69026835	2	4	264	1	0	0	0	0	0	0	0	1	2240	233	9	5		5	C3orf64	3	69026835	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	6668606	69026835	128995595	353	129871											
MITF	4286	broad.mit.edu	37	chr3	70008549	70008549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaactggagcacgccaaccGgcatttgttgctcagaatac	10	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:70008549G>A	uc003dnz.2	+	9	1255	c.1139G>A	c.(1138-1140)CGG>CAG	p.R380Q	MITF_uc011bgb.1_Missense_Mutation_p.R328Q|MITF_uc003doa.2_Missense_Mutation_p.R379Q|MITF_uc003dob.2_Missense_Mutation_p.R364Q|MITF_uc003dod.2_Missense_Mutation_p.R355Q|MITF_uc003doe.2_Missense_Mutation_p.R273Q|MITF_uc003dof.2_Missense_Mutation_p.R279Q	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	386	Leucine-zipper.				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			ovary(2)	2		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)		CACGCCAACCGGCATTTGTTG	0.438			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						A	70008549	G	A	70008549	3	1	264	1	0	0	0	0	1	0	0	0	9596	1116	39	1	1412	1	MITF	3	70008549	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	981714	70008549	128013881	354	129872											
RYBP	23429	broad.mit.edu	37	chr3	72427783	72427783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtccacgtttttcagcCggggcctagaagcaacacca	9	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:72427783C>T	uc003dpe.2	-	4	527	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	147	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTTTTTCAGCCGGGGCCTAGA	0.473													T	72427783	C	T	72427783	3	4	264	1	0	0	0	0	1	0	0	0	13766	652	23	1	250	1	RYBP	3	72427783	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2419234	72427783	125594647	355	129873											
SHQ1	55164	broad.mit.edu	37	chr3	72881584	72881584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtcttcgttcagctgCaggggtgaaatctggatcct	11	10	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:72881584C>T	uc003dpf.2	-	5	642	c.535G>A	c.(535-537)GCA>ACA	p.A179T	SHQ1_uc010hod.2_Missense_Mutation_p.A90T	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	179					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		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)		CGTTCAGCTGCAGGGGTGAAA	0.398													T	72881584	C	T	72881584	3	4	264	1	0	0	0	0	1	0	0	0	14292	710	25	2	1226	2	SHQ1	3	72881584	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	453801	72881584	125140846	356	129874											
ROBO1	6091	broad.mit.edu	37	chr3	78666874	78666874	+	Frame_Shift_Del	DEL	A	A	-													gggcaaagtcagcatcagtgAaaaaggagccgtccgaagaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:78666873_78666873GA>G	uc003dqe.2	-	26	4402	c.4194_4194TC>C	c.(4192-4194)ttcfs	p.F1398fs	ROBO1_uc003dqc.2_Frame_Shift_Del_p.F1298fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.F1353fs|ROBO1_uc003dqb.2_Frame_Shift_Del_p.F1359fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.F590fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.F970fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1398					Roundabout signaling pathway|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	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein 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)		CAGCATCAGTGAAAAAGGAGC	0.567													-	78666874	A	-	78666874	7	5	264	1	0	1	0	1	0	0	0	0	13513	246	9	0	782	0	ROBO1	3	78666874	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	5785290	78666874	119355556	357	129875											
EPHA6	285220	broad.mit.edu	37	chr3	97467487	97467487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagacgaatagtcagcaGcatacagactttacgtttac	8	10	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:97467487G>A	uc010how.1	+	18	3378	c.3335G>A	c.(3334-3336)AGC>AAC	p.S1112N		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	1017	SAM.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						ATAGTCAGCAGCATACAGACT	0.333													A	97467487	G	A	97467487	3	1	264	1	0	0	0	0	1	0	0	0	5171	971	34	2	3522	2	EPHA6	3	97467487	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	18800613	97467487	100554943	358	129876											
CRYBG3	131544	broad.mit.edu	37	chr3	97614862	97614862	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgcttgaagaaggagActttgaagacagtaatgctt	11	5	1	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:97614862A>T	uc003drx.2	+	9	1854	c.1790A>T	c.(1789-1791)GAC>GTC	p.D597V		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GAAGAAGGAGACTTTGAAGAC	0.403													T	97614862	A	T	97614862	3	4	264	1	0	0	0	0	1	0	0	0	3913	275	10	5	1824	5	CRYBG3	3	97614862	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	147375	97614862	100407568	359	129877											
GABRR3	200959	broad.mit.edu	37	chr3	97744439	97744439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtctcattgcgaaatcGttgtcctctatatggagaag	10	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:97744439G>A	uc011bgr.1	-	2	210	c.210C>T	c.(208-210)AAC>AAT	p.N70N		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	70	Extracellular (Potential).				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				0						TTGCGAAATCGTTGTCCTCTA	0.403													A	97744439	G	A	97744439	2	1	264	1	0	0	0	0	0	0	0	1	6178	1136	40	1		1	GABRR3	3	97744439	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	129577	97744439	100277991	360	129878											
IMPG2	50939	broad.mit.edu	37	chr3	100962449	100962449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttctgaaaacatcatgTtagtcactcggaggctgaag	10	8	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:100962449T>C	uc003duq.1	-	13	2929	c.2726A>G	c.(2725-2727)AAC>AGC	p.N909S	IMPG2_uc011bhe.1_Missense_Mutation_p.N772S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	909	Extracellular (Potential).|SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AAACATCATGTTAGTCACTCG	0.418													C	100962449	T	C	100962449	3	2	264	1	0	0	0	0	1	0	0	0	7729	1725	60	3	1027	3	IMPG2	3	100962449	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3218010	100962449	97059981	361	129879											
FAM55C	91775	broad.mit.edu	37	chr3	101525973	101525973	+	Splice_Site	DEL	A	A	-													ttcccaggagaataaaaggtAaaaaaaagaataagcttgat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353													-	101525973	A	-	101525973	8	5	264	1	0	1	0	1	0	0	1	0	5586	377	13	0		0	FAM55C	3	101525973	Splice_Site	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	563524	101525973	96496457	362	129880											
DPPA2	151871	broad.mit.edu	37	chr3	109028155	109028155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtggagctgtaaattgCtcatttgtttgaagtagatg	11	3	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:109028155C>T	uc003dxo.2	-	4	451	c.204G>A	c.(202-204)GAG>GAA	p.E68E		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	68						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						CTGTAAATTGCTCATTTGTTT	0.373													T	109028155	C	T	109028155	2	4	264	1	0	0	0	0	0	0	0	1	4734	796	28	2		2	DPPA2	3	109028155	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7502182	109028155	88994275	363	129881											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	264	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	5029848	114058003	83964427	364	129882											
ZBTB20	26137	broad.mit.edu	37	chr3	114070632	114070632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaagtggccacggttgCgctgctcgttgagggtctcg	15	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:114070632C>T	uc003ebi.2	-	4	473	c.293G>A	c.(292-294)CGC>CAC	p.R98H	ZBTB20_uc003ebj.2_Missense_Mutation_p.R25H|ZBTB20_uc010hqp.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebk.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebl.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebm.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebn.2_Missense_Mutation_p.R25H|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCCACGGTTGCGCTGCTCGTT	0.612													T	114070632	C	T	114070632	3	4	264	1	0	0	0	0	1	0	0	0	17526	768	27	1	1940	1	ZBTB20	3	114070632	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	12629	114070632	83951798	365	129883											
TMEM39A	55254	broad.mit.edu	37	chr3	119153647	119153647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatctgaaggcactgccaCgttgtaaggccccatggctc	10	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:119153647C>T	uc003eck.1	-	8	1558	c.1195G>A	c.(1195-1197)GTG>ATG	p.V399M	TMEM39A_uc003ecl.1_Missense_Mutation_p.V247M	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	399						integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GGCACTGCCACGTTGTAAGGC	0.453													T	119153647	C	T	119153647	3	4	264	1	0	0	0	0	1	0	0	0	16158	536	19	1	279	1	TMEM39A	3	119153647	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5083015	119153647	78868783	366	129884											
GPR156	165829	broad.mit.edu	37	chr3	119899986	119899986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctggggaatgaagaTgaagcagttgattgtagttg	13	5	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:119899986T>C	uc011bjf.1	-	7	919	c.919A>G	c.(919-921)ATC>GTC	p.I307V	GPR156_uc011bjg.1_Missense_Mutation_p.I303V	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	307	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		GGAATGAAGATGAAGCAGTTG	0.423													C	119899986	T	C	119899986	3	2	264	1	0	0	0	0	1	0	0	0	6661	1464	51	3	1537	3	GPR156	3	119899986	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	746339	119899986	78122444	367	129885											
POLQ	10721	broad.mit.edu	37	chr3	121238933	121238933	+	Splice_Site	DEL	A	A	-													tctcctcaaaagtaagacctAaaaaaaggaggtttttatat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|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)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)					-	121238933	A	-	121238933	8	5	264	1	0	1	0	1	0	0	1	0	12208	377	13	0		0	POLQ	3	121238933	Splice_Site	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1338947	121238933	76783497	368	129886											
ADCY5	111	broad.mit.edu	37	chr3	123046536	123046536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtaggcgttgcgctcgcCcccacagcctggctccacct	12	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:123046536C>T	uc003egh.1	-	7	1876	c.1876G>A	c.(1876-1878)GGC>AGC	p.G626S	ADCY5_uc003egg.1_Missense_Mutation_p.G259S|ADCY5_uc003egi.1_Missense_Mutation_p.G185S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	626	Cytoplasmic (Potential).				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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TTGCGCTCGCCCCCACAGCCT	0.637													T	123046536	C	T	123046536	3	4	264	1	0	0	0	0	1	0	0	0	297	623	22	4	1969	4	ADCY5	3	123046536	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1807603	123046536	74975894	369	129887											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368044	+	Splice_Site	DEL	G	G	-													ccacttcatccttcggctctGgggggggcacaaggaaggac					rs138786404		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin 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)		CCTTCGGCTCTGGGGGGGGCA	0.622													-	123368044	G	-	123368044	8	5	264	1	0	1	0	1	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	321508	123368044	74654386	370	129888											
UROC1	131669	broad.mit.edu	37	chr3	126224606	126224606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgagccccactcattcCgccgagcccagaggtgacaa	11	16	1	3	rs140432607	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:126224606C>T	uc003eiz.1	-	8	783	c.751G>A	c.(751-753)GGA>AGA	p.G251R	UROC1_uc010hsi.1_Missense_Mutation_p.G251R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	251					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		CCACTCATTCCGCCGAGCCCA	0.542													T	126224606	C	T	126224606	3	4	264	1	0	0	0	0	1	0	0	0	17025	661	23	1	1515	1	UROC1	3	126224606	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2856562	126224606	71797824	371	129889											
PLXNA1	5361	broad.mit.edu	37	chr3	126733160	126733160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgctgccgacacacctgCatcgtggatgcacgcgcgtc	12	16	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:126733160C>T	uc003ejg.2	+	11	2481	c.2477C>T	c.(2476-2478)GCA>GTA	p.A826V		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	849	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GACACACCTGCATCGTGGATG	0.711													T	126733160	C	T	126733160	3	4	264	1	0	0	0	0	1	0	0	0	12119	710	25	2	2588	2	PLXNA1	3	126733160	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	508554	126733160	71289270	372	129890											
PLXNA1	5361	broad.mit.edu	37	chr3	126749123	126749123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacgacctgtttgagaCcatcttcagcacggcacacc	10	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:126749123C>A	uc003ejg.2	+	28	5034	c.5030C>A	c.(5029-5031)ACC>AAC	p.T1677N	PLXNA1_uc003ejh.2_Missense_Mutation_p.T345N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1700	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTGTTTGAGACCATCTTCAGC	0.632													A	126749123	C	A	126749123	3	1	264	1	0	0	0	0	1	0	0	0	12119	507	18	5	5209	5	PLXNA1	3	126749123	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	15963	126749123	71273307	373	129891											
RUVBL1	8607	broad.mit.edu	37	chr3	127819504	127819504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgatttctttctttttGtgcacatccccttttggcaa	7	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:127819504G>A	uc003ekh.2	-	6	791	c.687C>T	c.(685-687)CAC>CAT	p.H229H	RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Silent_p.H169H|RUVBL1_uc010hss.2_Silent_p.H229H	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	229					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CTTTCTTTTTGTGCACATCCC	0.498													A	127819504	G	A	127819504	2	1	264	1	0	0	0	0	0	0	0	1	13752	1368	48	4		4	RUVBL1	3	127819504	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1070381	127819504	70202926	374	129892											
COPG	22820	broad.mit.edu	37	chr3	128987780	128987780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgctcctgcagaaagtAcccccatcacagcagtcaaa	6	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:128987780A>G	uc003els.2	+	18	1880	c.1780A>G	c.(1780-1782)ACC>GCC	p.T594A	COPG_uc010htb.2_Missense_Mutation_p.T500A	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	594					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TGCAGAAAGTACCCCCATCAC	0.532													G	128987780	A	G	128987780	3	3	264	1	0	0	0	0	1	0	0	0	3731	391	14	3	1850	3	COPG	3	128987780	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1168276	128987780	69034650	375	129893											
PLXND1	23129	broad.mit.edu	37	chr3	129275467	129275467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcactcacctgcggcCgatacctcttggcgtactta	11	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:129275467C>T	uc003emx.2	-	35	5754	c.5654G>A	c.(5653-5655)CGG>CAG	p.R1885Q	PLXND1_uc003emw.2_Missense_Mutation_p.R41Q|PLXND1_uc011blb.1_Missense_Mutation_p.R554Q	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1885	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CACCTGCGGCCGATACCTCTT	0.552													T	129275467	C	T	129275467	3	4	264	1	0	0	0	0	1	0	0	0	12127	652	23	1	131	1	PLXND1	3	129275467	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	287687	129275467	68746963	376	129894											
NPHP3	27031	broad.mit.edu	37	chr3	132419201	132419201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagagttagtcgtttaataaTcaaggaggactctgagctgg	12	5	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:132419201T>C	uc003epe.1	-	11	1797	c.1720A>G	c.(1720-1722)ATT>GTT	p.I574V	NPHP3_uc003epd.1_5'UTR|NPHP3_uc003epf.1_Missense_Mutation_p.I329V	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	574					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			ovary(1)	1						CGTTTAATAATCAAGGAGGAC	0.373													C	132419201	T	C	132419201	3	2	264	1	0	0	0	0	1	0	0	0	10580	1435	50	3	2340	3	NPHP3	3	132419201	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3143734	132419201	65603229	377	129895											
C3orf36	80111	broad.mit.edu	37	chr3	133647420	133647420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgctcctcggggtgtggCgcggcccactcaggagcccc	14	17	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:133647420C>T	uc003epz.1	-	1	1237	c.228G>A	c.(226-228)GCG>GCA	p.A76A		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	76										ovary(1)	1						CGGGGTGTGGCGCGGCCCACT	0.667													T	133647420	C	T	133647420	2	4	264	1	0	0	0	0	0	0	0	1	2226	755	27	1		1	C3orf36	3	133647420	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1228219	133647420	64375010	378	129896											
TXNDC6	347736	broad.mit.edu	37	chr3	138023786	138023786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgccaggtagtgaccacGtcctcgaagccctcagtcct	10	15	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:138023786G>A	uc003esg.2	-	9	748	c.720C>T	c.(718-720)GAC>GAT	p.D240D	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Silent_p.D155D|TXNDC6_uc003ese.1_Silent_p.D179D	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	240	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						TAGTGACCACGTCCTCGAAGC	0.592													A	138023786	G	A	138023786	2	1	264	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TXNDC6	3	138023786	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4376366	138023786	59998644	379	129897											
ZBTB38	253461	broad.mit.edu	37	chr3	141164238	141164238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaccaaggaaggccccaccGacatcttacttctcggccat	7	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:141164238G>A	uc003etw.2	+	8	3990	c.3008G>A	c.(3007-3009)CGA>CAA	p.R1003Q	ZBTB38_uc010hun.2_Missense_Mutation_p.R1000Q|ZBTB38_uc010huo.2_Missense_Mutation_p.R1003Q|ZBTB38_uc003ety.2_Missense_Mutation_p.R1003Q|ZBTB38_uc010hup.2_Missense_Mutation_p.R1004Q	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1003					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGGCCCCACCGACATCTTACT	0.537													A	141164238	G	A	141164238	3	1	264	1	0	0	0	0	1	0	0	0	17536	1058	37	1	3010	1	ZBTB38	3	141164238	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3140452	141164238	56858192	380	129898											
SLC9A9	285195	broad.mit.edu	37	chr3	143185877	143185877	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctagacggtgtcactcAcctgatctgaagccaagtca	9	11	4	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:143185877A>G	uc003evn.2	-	12	1651	c.1469_splice	c.e12+1	p.R490_splice		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen						regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GGTGTCACTCACCTGATCTGA	0.468													G	143185877	A	G	143185877	5	3	264	1	0	0	0	0	0	0	1	0	14721	173	6	3	486	3	SLC9A9	3	143185877	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2021639	143185877	54836553	381	129899											
ZIC1	7545	broad.mit.edu	37	chr3	147130455	147130455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcatcccagttcgctgcGcaaacacatgaaggtaatcg	9	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:147130455G>A	uc003ewe.2	+	2	1852	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	378	C2H2-type 5.				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			ovary(1)|central_nervous_system(1)	2						AGTTCGCTGCGCAAACACATG	0.602													A	147130455	G	A	147130455	3	1	264	1	0	0	0	0	1	0	0	0	17675	1087	38	1	1139	1	ZIC1	3	147130455	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3944578	147130455	50891975	382	129900											
MED12L	116931	broad.mit.edu	37	chr3	151105704	151105704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggacagtccgagtggAccgaagagtgatcaagtacg	15	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:151105704A>G	uc003eyp.2	+	35	5128	c.5090A>G	c.(5089-5091)GAC>GGC	p.D1697G	MED12L_uc011bnz.1_Missense_Mutation_p.D1557G|MED12L_uc003eyy.1_Missense_Mutation_p.D860G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1697					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCCGAGTGGACCGAAGAGTG	0.582													G	151105704	A	G	151105704	3	3	264	1	0	0	0	0	1	0	0	0	9429	275	10	3	5228	3	MED12L	3	151105704	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3975249	151105704	46916726	383	129901											
MECOM	2122	broad.mit.edu	37	chr3	168840366	168840366	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcctacaaattcactgtAccttggcacagttttcacat	6	11	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:168840366A>G	uc003ffi.3	-	5	683	c.414_splice	c.e5+1	p.K138_splice	MECOM_uc010hwk.1_Splice_Site_p.K161_splice|MECOM_uc003ffj.3_Splice_Site_p.K202_splice|MECOM_uc011bpi.1_Splice_Site_p.K138_splice|MECOM_uc003ffn.3_Splice_Site_p.K138_splice|MECOM_uc003ffk.2_Splice_Site_p.K138_splice|MECOM_uc003ffl.2_Splice_Site_p.K298_splice|MECOM_uc011bpj.1_Splice_Site_p.K326_splice|MECOM_uc011bpk.1_Splice_Site_p.K128_splice|MECOM_uc010hwn.2_Splice_Site_p.K326_splice	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b						apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AATTCACTGTACCTTGGCACA	0.428													G	168840366	A	G	168840366	5	3	264	1	0	0	0	0	0	0	1	0	9422	405	14	3	2790	3	MECOM	3	168840366	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	17734662	168840366	29182064	384	129902											
ARPM1	84517	broad.mit.edu	37	chr3	169485249	169485249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttggtgtactatgttggGtccaacttctttaaattctg	8	7	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:169485249G>T	uc003ffs.1	-	2	1465	c.1090C>A	c.(1090-1092)CCC>ACC	p.P364T	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	364						cytoplasm|cytoskeleton					0	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;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACTATGTTGGGTCCAACTTCT	0.368													T	169485249	G	T	169485249	3	4	264	1	0	0	0	0	1	0	0	0	976	1261	44	5	32	5	ARPM1	3	169485249	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	644883	169485249	28537181	385	129903											
GHSR	2693	broad.mit.edu	37	chr3	172165588	172165588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtgagcagtccagagcGcaccgcaaactcggtggggc	15	13	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:172165588G>A	uc003fib.1	-	1	616	c.616C>T	c.(616-618)CGC>TGC	p.R206C	GHSR_uc011bpv.1_Missense_Mutation_p.R206C	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	206	Extracellular (Potential).				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			lung(3)|ovary(1)|central_nervous_system(1)	5	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)			AGTCCAGAGCGCACCGCAAAC	0.617													A	172165588	G	A	172165588	3	1	264	1	0	0	0	0	1	0	0	0	6375	1087	38	1	566	1	GHSR	3	172165588	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2680339	172165588	25856842	386	129904											
NAALADL2	254827	broad.mit.edu	37	chr3	175473035	175473035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccaacactcatcaactgtTagccatggcgttacgcctgc	7	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:175473035T>C	uc003fit.2	+	13	2105	c.2018T>C	c.(2017-2019)TTA>TCA	p.L673S		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	673	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		CATCAACTGTTAGCCATGGCG	0.488													C	175473035	T	C	175473035	3	2	264	1	0	0	0	0	1	0	0	0	10130	1764	61	3	2068	3	NAALADL2	3	175473035	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3307447	175473035	22549395	387	129905											
TBL1XR1	79718	broad.mit.edu	37	chr3	176768322	176768322	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagataaaaacttcagattcAtggccccgcaacacaacagc	6	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:176768322A>G	uc003fiw.3	-	6	764	c.504T>C	c.(502-504)CAT>CAC	p.H168H	TBL1XR1_uc003fix.3_Silent_p.H168H|TBL1XR1_uc011bpz.1_Intron	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	168	WD 1.				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			ovary(1)	1	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)			CTTCAGATTCATGGCCCCGCA	0.393													G	176768322	A	G	176768322	2	3	264	1	0	0	0	0	0	0	0	1	15637	214	8	3		3	TBL1XR1	3	176768322	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1295287	176768322	21254108	388	129906											
PSMD2	5708	broad.mit.edu	37	chr3	184021113	184021113	+	Frame_Shift_Del	DEL	G	G	-													tccctcctgttgcagggtttGggggcagtggctctcaggtg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:184021112_184021112TG>T	uc003fnn.1	+	8	1107	c.1074_1074TG>T	c.(1072-1074)tttfs	p.F358fs	PSMD2_uc011brj.1_Frame_Shift_Del_p.F199fs|PSMD2_uc011brk.1_Frame_Shift_Del_p.F228fs	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	358					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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)	TTGCAGGGTTTGGGGGCAGTG	0.512													-	184021113	G	-	184021113	7	5	264	1	0	1	0	1	0	0	0	0	12698	1348	47	0	1109	0	PSMD2	3	184021113	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	7252791	184021113	14001317	389	129907											
SENP2	59343	broad.mit.edu	37	chr3	185318608	185318608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatcagagtgacagttacCcgagatcagccacgcagagt	11	10	2	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:185318608C>A	uc003fpn.2	+	5	585	c.414C>A	c.(412-414)ACC>ACA	p.T138T	SENP2_uc011brv.1_Silent_p.T128T|SENP2_uc011brw.1_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	138					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				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGACAGTTACCCGAGATCAGC	0.363													A	185318608	C	A	185318608	2	1	264	1	0	0	0	0	0	0	0	1	14047	610	22	5		5	SENP2	3	185318608	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1297495	185318608	12703822	390	129908											
LPP	4026	broad.mit.edu	37	chr3	188477984	188477984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttccacgtggattgtTttacctgcatcatctgcaac	8	11	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:188477984T>C	uc003frs.1	+	8	1570	c.1324T>C	c.(1324-1326)TTT>CTT	p.F442L	LPP_uc011bsg.1_Missense_Mutation_p.F295L|LPP_uc011bsi.1_Missense_Mutation_p.F442L|LPP_uc011bsj.1_Missense_Mutation_p.F279L	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	442	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	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)		CGTGGATTGTTTTACCTGCAT	0.493			T	HMGA2|MLL|C12orf9	lipoma|leukemia								C	188477984	T	C	188477984	3	2	264	1	0	0	0	0	1	0	0	0	8923	1841	64	3	1346	3	LPP	3	188477984	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3159376	188477984	9544446	391	129909											
LEPREL1	55214	broad.mit.edu	37	chr3	189675769	189675769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgatccagaattgcaaTcacttcatcagcctgtattc	5	11	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:189675769T>C	uc011bsk.1	-	15	2447	c.2059A>G	c.(2059-2061)ATT>GTT	p.I687V	LEPREL1_uc003fsg.2_Missense_Mutation_p.I506V	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	687					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			breast(3)|ovary(1)	4	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)	AGAATTGCAATCACTTCATCA	0.358											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	189675769	T	C	189675769	3	2	264	1	0	0	0	0	1	0	0	0	8730	1435	50	3	71	3	LEPREL1	3	189675769	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1197785	189675769	8346661	392	129910											
CPN2	1370	broad.mit.edu	37	chr3	194062683	194062683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgcgtgatggcgttgCgttgcagccacagcctctct	14	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:194062683C>T	uc003fts.2	-	2	839	c.749G>A	c.(748-750)CGC>CAC	p.R250H		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	250	LRR 7.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	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)		GATGGCGTTGCGTTGCAGCCA	0.607													T	194062683	C	T	194062683	3	4	264	1	0	0	0	0	1	0	0	0	3810	768	27	1	892	1	CPN2	3	194062683	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4386914	194062683	3959747	393	129911											
TNK2	10188	broad.mit.edu	37	chr3	195594872	195594872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacagctggacgtgtgggCgcgtgggccgaggggggatg	23	7	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:195594872C>T	uc003fvu.1	-	12	2795	c.2252G>A	c.(2251-2253)CGC>CAC	p.R751H	TNK2_uc003fvq.1_Missense_Mutation_p.R158H|TNK2_uc003fvr.1_Missense_Mutation_p.R276H|TNK2_uc003fvs.1_Missense_Mutation_p.R783H|TNK2_uc003fvt.1_Missense_Mutation_p.R829H|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	751	Pro-rich.|EBD domain (By similarity).			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			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	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)	GACGTGTGGGCGCGTGGGCCG	0.766													T	195594872	C	T	195594872	3	4	264	1	0	0	0	0	1	0	0	0	16315	768	27	1	880	1	TNK2	3	195594872	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1532189	195594872	2427558	394	129912											
PCYT1A	5130	broad.mit.edu	37	chr3	195975168	195975168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaataagtcaaatattccatCggcataaactctcacaggtc	5	10	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:195975168C>T	uc003fwg.2	-	5	417	c.244G>A	c.(244-246)GAT>AAT	p.D82N	PCYT1A_uc003fwh.2_Missense_Mutation_p.D82N	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	82	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)	AATATTCCATCGGCATAAACT	0.343													T	195975168	C	T	195975168	3	4	264	1	0	0	0	0	1	0	0	0	11610	884	31	1	883	1	PCYT1A	3	195975168	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	380296	195975168	2047262	395	129913											
PCYT1A	5130	broad.mit.edu	37	chr3	195984673	195984673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacaaggagttcctctgCtggcttcttccatagttacc	7	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:195984673C>T	uc003fwg.2	-	4	376	c.203G>A	c.(202-204)AGC>AAC	p.S68N	PCYT1A_uc003fwh.2_Missense_Mutation_p.S68N	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	68						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)	AGTTCCTCTGCTGGCTTCTTC	0.368													T	195984673	C	T	195984673	3	4	264	1	0	0	0	0	1	0	0	0	11610	797	28	2	928	2	PCYT1A	3	195984673	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	9505	195984673	2037757	396	129914											
LRRC33	375387	broad.mit.edu	37	chr3	196388469	196388469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggacctgggcctgctctAcctcgtgctcatcctcccca	9	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:196388469A>G	uc003fwv.2	+	3	2059	c.1955A>G	c.(1954-1956)TAC>TGC	p.Y652C		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	652	Helical; (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-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;0.00326)		GGCCTGCTCTACCTCGTGCTC	0.622													G	196388469	A	G	196388469	3	3	264	1	0	0	0	0	1	0	0	0	8988	391	14	3	1961	3	LRRC33	3	196388469	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	403796	196388469	1633961	397	129915											
CTBP1	1487	broad.mit.edu	37	chr4	1208166	1208166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcacatccagggccgcGccgcggatccggccctcctt	12	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:1208166G>A	uc003gcv.1	-	6	1023	c.858C>T	c.(856-858)GGC>GGT	p.G286G	uc003gcs.1_Intron|CTBP1_uc003gct.1_Silent_p.G267G|CTBP1_uc003gcu.1_Silent_p.G275G|CTBP1_uc003gcw.2_5'Flank	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	286					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CCAGGGCCGCGCCGCGGATCC	0.687													A	1208166	G	A	1208166	2	1	264	1	0	0	0	0	0	0	0	1	3997	1074	38	1		1	CTBP1	4	1208166	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08		1208166	189946110	398	129916											
CRIPAK	285464	broad.mit.edu	37	chr4	1388396	1388396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcccatgtggagtgcCcgcctgctcacacatgtcga	11	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:1388396C>A	uc003gdf.2	+	1	3057	c.97C>A	c.(97-99)CCG>ACG	p.P33T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	33					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGTGGAGTGCCCGCCTGCTCA	0.637													A	1388396	C	A	1388396	3	1	264	1	0	0	0	0	1	0	0	0	3877	623	22	5	99	5	CRIPAK	4	1388396	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	180230	1388396	189765880	399	129917											
FGFR3	2261	broad.mit.edu	37	chr4	1801006	1801006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcccagagcccggccaGcaggagcagttggtcttcgg	16	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:1801006G>A	uc003gdr.3	+	3	391	c.135G>A	c.(133-135)CAG>CAA	p.Q45Q	FGFR3_uc003gdu.2_Silent_p.Q45Q|FGFR3_uc003gds.3_Silent_p.Q45Q|FGFR3_uc003gdq.3_Silent_p.Q45Q|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	45	Ig-like C2-type 1.|Extracellular (Potential).				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			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		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)	AGCCCGGCCAGCAGGAGCAGT	0.667		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				A	1801006	G	A	1801006	2	1	264	1	0	0	0	0	0	0	0	1	5867	962	34	2		2	FGFR3	4	1801006	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	412610	1801006	189353270	400	129918											
POLN	353497	broad.mit.edu	37	chr4	2209759	2209759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagtatacatcacagtTatcaccagggctgctgcctg	8	13	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:2209759T>C	uc003ger.2	-	3	669	c.669A>G	c.(667-669)ATA>ATG	p.I223M	POLN_uc010ich.1_Translation_Start_Site|POLN_uc011bvi.1_Missense_Mutation_p.I223M	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	223					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACATCACAGTTATCACCAGGG	0.418								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	2209759	T	C	2209759	3	2	264	1	0	0	0	0	1	0	0	0	12207	1744	61	3	2121	3	POLN	4	2209759	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	408753	2209759	188944517	401	129919											
TBC1D14	57533	broad.mit.edu	37	chr4	7000928	7000928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctaactgggaaacaAtgtaagatgtggctctgggt	11	7	2	1	rs142740335		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:7000928A>G	uc011bwg.1	+	6	1241	c.1162A>G	c.(1162-1164)ATG>GTG	p.M388V	TBC1D14_uc003gjs.3_Missense_Mutation_p.M388V|TBC1D14_uc010idh.2_Missense_Mutation_p.M108V|TBC1D14_uc011bwh.1_Missense_Mutation_p.M1V|TBC1D14_uc003gju.3_5'Flank	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	388						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						CTGGGAAACAATGTAAGATGT	0.498													G	7000928	A	G	7000928	3	3	264	1	0	0	0	0	1	0	0	0	15600	115	4	3	1187	3	TBC1D14	4	7000928	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	4791169	7000928	184153348	402	129920											
CPZ	8532	broad.mit.edu	37	chr4	8603004	8603004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagctcctggaaggccaGtgcaacccggacctgcggct	12	16	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:8603004G>A	uc003glm.2	+	3	402	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Translation_Start_Site|CPZ_uc003glo.2_Silent_p.Q81Q|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	92	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						TGGAAGGCCAGTGCAACCCGG	0.682													A	8603004	G	A	8603004	2	1	264	1	0	0	0	0	0	0	0	1	3839	1020	36	4		4	CPZ	4	8603004	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1602076	8603004	182551272	403	129921											
HS3ST1	9957	broad.mit.edu	37	chr4	11400811	11400811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggatcgacttgggggtgCgcccggcctttggactcatg	16	10	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:11400811C>T	uc003gmq.2	-	2	1142	c.819G>A	c.(817-819)GCG>GCA	p.A273A		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	273	PAPS.					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						CTTGGGGGTGCGCCCGGCCTT	0.488													T	11400811	C	T	11400811	2	4	264	1	0	0	0	0	0	0	0	1	7363	755	27	1		1	HS3ST1	4	11400811	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2797807	11400811	179753465	404	129922											
FGFBP1	9982	broad.mit.edu	37	chr4	15937783	15937783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcctgggctttgtgTtcccaaatagagtggagctg	11	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:15937783T>C	uc003gom.2	-	2	591	c.473A>G	c.(472-474)AAC>AGC	p.N158S		NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	158					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0						GGGCTTTGTGTTCCCAAATAG	0.498													C	15937783	T	C	15937783	3	2	264	1	0	0	0	0	1	0	0	0	5860	1725	60	3	235	3	FGFBP1	4	15937783	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4536972	15937783	175216493	405	129923											
LCORL	254251	broad.mit.edu	37	chr4	17847390	17847390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttatgaactgtacagctcGttagagatgctgttgtcaaa	11	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:17847390G>A	uc003gpq.2	-	7	922	c.911C>T	c.(910-912)ACG>ATG	p.T304M	LCORL_uc011bxk.1_3'UTR	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TGTACAGCTCGTTAGAGATGC	0.388													A	17847390	G	A	17847390	3	1	264	1	0	0	0	0	1	0	0	0	8690	1145	40	1	49	1	LCORL	4	17847390	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1909607	17847390	173306886	406	129924											
SLIT2	9353	broad.mit.edu	37	chr4	20512140	20512141	+	Frame_Shift_Del	DEL	AA	AA	-													gtttggaacagaacacaatcAaagtcatccctcctggagct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:20512139_20512140CAA>C	uc003gpr.1	+	9	1140_1141	c.936_937CAA>C	c.(934-939)atcaaafs	p.I312fs	SLIT2_uc003gps.1_Frame_Shift_Del_p.I312fs	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	312					Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.T311T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGAACACAATCAAAGTCATCCC	0.332													-	20512141	AA	-	20512140	7	5	264	1	0	1	0	1	0	0	0	0	14740	131	5	0	975	0	SLIT2	4	20512140	Frame_Shift_Del	DEL	AA	TCGA-HU-A4G8-01A-11D-A25D-08	2664750	20512140	170642136	407	129925											
SEL1L3	23231	broad.mit.edu	37	chr4	25849128	25849128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtgagtaatccaggcgCgtactatcactgcagataca	9	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:25849128C>T	uc003gru.3	-	2	673	c.521G>A	c.(520-522)CGC>CAC	p.R174H		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	174						integral to membrane	binding				0						AATCCAGGCGCGTACTATCAC	0.413													T	25849128	C	T	25849128	3	4	264	1	0	0	0	0	1	0	0	0	14012	768	27	1	2969	1	SEL1L3	4	25849128	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5336988	25849128	165305148	408	129926											
SEL1L3	23231	broad.mit.edu	37	chr4	25849271	25849271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctttttttgtacacGggaatgctacttctgaactc	6	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:25849271G>A	uc003gru.3	-	2	530	c.378C>T	c.(376-378)CCC>CCT	p.P126P		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	126						integral to membrane	binding				0						TTTTGTACACGGGAATGCTAC	0.393													A	25849271	G	A	25849271	2	1	264	1	0	0	0	0	0	0	0	1	14012	1103	39	1		1	SEL1L3	4	25849271	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	143	25849271	165305005	409	129927											
RBPJ	3516	broad.mit.edu	37	chr4	26426019	26426022	+	Frame_Shift_Del	DEL	AGTT	AGTT	-													aatcgactacgatcccagacAgttagtaccagatacttgca					rs75014045	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:26426018_26426021CAGTT>C	uc003grx.2	+	6	826_829	c.590_593CAGTT>C	c.(589-594)acagttfs	p.T197fs	RBPJ_uc003gry.2_Frame_Shift_Del_p.T182fs|RBPJ_uc003grz.2_Frame_Shift_Del_p.T197fs|RBPJ_uc011bxt.2_Frame_Shift_Del_p.T197fs|RBPJ_uc003gsa.2_Frame_Shift_Del_p.T183fs|RBPJ_uc003gsb.2_Frame_Shift_Del_p.T184fs	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	197					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)				CGATCCCAGACAGTTAGTACCAGA	0.412													-	26426022	AGTT	-	26426019	7	5	264	1	0	1	0	1	0	0	0	0	13161	175	7	0	676	0	RBPJ	4	26426019	Frame_Shift_Del	DEL	AGTT	TCGA-HU-A4G8-01A-11D-A25D-08	576748	26426019	164728257	410	129928											
TBC1D1	23216	broad.mit.edu	37	chr4	38016513	38016513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctccttcgaggagagCgacattgagaaccacctcat	9	12	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:38016513C>T	uc003gtb.2	+	3	1144	c.801C>T	c.(799-801)AGC>AGT	p.S267S	TBC1D1_uc011byd.1_Silent_p.S267S|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.S138S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	267	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						TCGAGGAGAGCGACATTGAGA	0.552													T	38016513	C	T	38016513	2	4	264	1	0	0	0	0	0	0	0	1	15594	767	27	1		1	TBC1D1	4	38016513	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	11590494	38016513	153137763	411	129929											
LIAS	11019	broad.mit.edu	37	chr4	39471655	39471655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagtaaggttcgtgatcctCgggccaattttgatcagtcc	10	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:39471655C>T	uc003guf.2	+	8	827	c.754C>T	c.(754-756)CGG>TGG	p.R252W	LIAS_uc003gug.2_Missense_Mutation_p.R252W|LIAS_uc003guh.2_Missense_Mutation_p.R209W	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor	252					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TCGTGATCCTCGGGCCAATTT	0.418													T	39471655	C	T	39471655	3	4	264	1	0	0	0	0	1	0	0	0	8778	875	31	1	784	1	LIAS	4	39471655	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1455142	39471655	151682621	412	129930											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984202	41984202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaggtgaagtccctgtgCtgggcctcgctgaaccagtt	14	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:41984202C>T	uc003gwk.2	+	1	490	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	131										skin(1)	1						AGTCCCTGTGCTGGGCCTCGC	0.572													T	41984202	C	T	41984202	2	4	264	1	0	0	0	0	0	0	0	1	4271	805	28	2		2	DCAF4L1	4	41984202	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2512547	41984202	149170074	413	129931											
GNPDA2	132789	broad.mit.edu	37	chr4	44713002	44713002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcactgtccccacaccaaCagttagagccatagttggca	7	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:44713002C>T	uc003gwy.2	-	5	719	c.562G>A	c.(562-564)GTT>ATT	p.V188I	GNPDA2_uc010iga.2_Missense_Mutation_p.V154I|GNPDA2_uc011bzb.1_Missense_Mutation_p.V118I|GNPDA2_uc003gwz.1_Missense_Mutation_p.V188I	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	188					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						CCCACACCAACAGTTAGAGCC	0.353													T	44713002	C	T	44713002	3	4	264	1	0	0	0	0	1	0	0	0	6543	478	17	4	280	4	GNPDA2	4	44713002	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2728800	44713002	146441274	414	129932											
ATP10D	57205	broad.mit.edu	37	chr4	47537590	47537590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcttagaggatgcaccAttagaaacacagaggctgtt	11	7	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:47537590A>G	uc003gxk.1	+	6	1005	c.841A>G	c.(841-843)ATT>GTT	p.I281V	ATP10D_uc003gxl.1_5'Flank|ATP10D_uc003gxj.3_Missense_Mutation_p.I281V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	281	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						AGGATGCACCATTAGAAACAC	0.363													G	47537590	A	G	47537590	3	3	264	1	0	0	0	0	1	0	0	0	1118	217	8	3	859	3	ATP10D	4	47537590	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2824588	47537590	143616686	415	129933											
CORIN	10699	broad.mit.edu	37	chr4	47645224	47645224	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacaccacaggtcacgTgacacacacgcatggtttgc	8	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:47645224T>G	uc003gxm.2	-	15	2100	c.2007A>C	c.(2005-2007)TCA>TCC	p.S669S	CORIN_uc011bzf.1_Silent_p.S530S|CORIN_uc011bzg.1_Silent_p.S602S|CORIN_uc011bzh.1_Silent_p.S632S	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	669	Extracellular (Potential).|LDL-receptor class A 7.				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			ovary(1)|central_nervous_system(1)	2						ACAGGTCACGTGACACACACG	0.453													G	47645224	T	G	47645224	2	3	264	1	0	0	0	0	0	0	0	1	3752	1683	59	5		5	CORIN	4	47645224	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	107634	47645224	143509052	416	129934											
SLC10A4	201780	broad.mit.edu	37	chr4	48490652	48490652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtatgtctggaaacagGtagtcagaatgtgcagctct	12	7	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:48490652G>A	uc003gyc.2	+	3	1229	c.1010G>A	c.(1009-1011)GGT>GAT	p.G337D	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	337	Cytoplasmic (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						CTGGAAACAGGTAGTCAGAAT	0.448													A	48490652	G	A	48490652	3	1	264	1	0	0	0	0	1	0	0	0	14376	1261	44	4	1020	4	SLC10A4	4	48490652	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	845428	48490652	142663624	417	129935											
KDR	3791	broad.mit.edu	37	chr4	55962504	55962504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgctcactgtgtgttgCtccttctacaaatacagtac	7	11	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:55962504C>T	uc003has.2	-	19	2922	c.2620G>A	c.(2620-2622)GCA>ACA	p.A874T	KDR_uc003hat.1_Missense_Mutation_p.A874T	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	874	Protein kinase.|Cytoplasmic (Potential).				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			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	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)	CTGTGTGTTGCTCCTTCTACA	0.448			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55962504	C	T	55962504	3	4	264	1	0	0	0	0	1	0	0	0	8139	797	28	2	1498	2	KDR	4	55962504	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7471852	55962504	135191772	418	129936											
CLOCK	9575	broad.mit.edu	37	chr4	56325419	56325419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaacagaattctaacTgattttttgctgaaataaaa	6	5	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:56325419T>C	uc003haz.1	-	11	1495	c.569A>G	c.(568-570)CAG>CGG	p.Q190R	CLOCK_uc003hba.1_Missense_Mutation_p.Q190R	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	190					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			central_nervous_system(2)|ovary(1)	3	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)			GAATTCTAACTGATTTTTTGC	0.279													C	56325419	T	C	56325419	3	2	264	1	0	0	0	0	1	0	0	0	3549	1580	55	3	2027	3	CLOCK	4	56325419	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	362915	56325419	134828857	419	129937											
REST	5978	broad.mit.edu	37	chr4	57797474	57797474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccaaaaagcctcctctccGaaaagataaaaaggaaaagt	6	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:57797474G>A	uc003hch.2	+	4	2797	c.2450G>A	c.(2449-2451)CGA>CAA	p.R817Q	REST_uc003hci.2_Missense_Mutation_p.R817Q|REST_uc010ihf.2_Missense_Mutation_p.R491Q	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	817					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			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					CCTCCTCTCCGAAAAGATAAA	0.507													A	57797474	G	A	57797474	3	1	264	1	0	0	0	0	1	0	0	0	13234	1058	37	1	2460	1	REST	4	57797474	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1472055	57797474	133356802	420	129938											
LPHN3	23284	broad.mit.edu	37	chr4	62758468	62758468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaaggagtaccaccccGtcagtgtcaggaagaagaaa	12	10	2	2	rs145773574	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:62758468G>A	uc010ihh.2	+	7	1544	c.1371G>A	c.(1369-1371)CCG>CCA	p.P457P	LPHN3_uc003hcq.3_Silent_p.P457P|LPHN3_uc003hcs.1_Silent_p.P286P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	457	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GTACCACCCCGTCAGTGTCAG	0.522													A	62758468	G	A	62758468	2	1	264	1	0	0	0	0	0	0	0	1	8917	1132	40	1		1	LPHN3	4	62758468	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4960994	62758468	128395808	421	129939											
STAP1	26228	broad.mit.edu	37	chr4	68472069	68472069	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaaaatccacacatTgcatgaaatacaatgtgaaa	6	6	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:68472069T>C	uc003hde.3	+	9	964	c.882T>C	c.(880-882)ATT>ATC	p.I294I	STAP1_uc003hdf.2_Silent_p.I294I	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	294					cellular membrane fusion|intracellular protein transport	cytoplasm					0						ATCCACACATTGCATGAAATA	0.318													C	68472069	T	C	68472069	2	2	264	1	0	0	0	0	0	0	0	1	15251	1800	63	3		3	STAP1	4	68472069	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	5713601	68472069	122682207	422	129940											
UBA6	55236	broad.mit.edu	37	chr4	68536260	68536260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaacttcaaattcatcaccGaaatcacaaaataaccttga	2	10	4	1	rs140398587	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:68536260G>A	uc003hdg.3	-	8	649	c.597C>T	c.(595-597)TTC>TTT	p.F199F	UBA6_uc003hdi.2_Silent_p.F199F|UBA6_uc003hdj.2_Silent_p.F199F	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	199					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						ATTCATCACCGAAATCACAAA	0.269													A	68536260	G	A	68536260	2	1	264	1	0	0	0	0	0	0	0	1	16829	1049	37	1		1	UBA6	4	68536260	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	64191	68536260	122618016	423	129941											
UGT2A3	79799	broad.mit.edu	37	chr4	69817370	69817370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaatgaccttgacattaaGccaatggctcatgtcacagg	9	9	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:69817370G>A	uc003hef.2	-	1	140	c.109C>T	c.(109-111)CTT>TTT	p.L37F	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	37	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TTGACATTAAGCCAATGGCTC	0.473													A	69817370	G	A	69817370	3	1	264	1	0	0	0	0	1	0	0	0	16952	971	34	2	1498	2	UGT2A3	4	69817370	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1281110	69817370	121336906	424	129942											
UGT2B4	7363	broad.mit.edu	37	chr4	70346622	70346623	+	Frame_Shift_Del	DEL	TT	TT	-													gataatttcatagcattctcTttatatctaaacgataagca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:70346621_70346622CTT>C	uc003hek.4	-	5	1364_1365	c.1317_1318AAG>G	c.(1315-1320)aaagagfs	p.K439fs	UGT2B4_uc011cap.2_Frame_Shift_Del_p.K303fs|UGT2B4_uc003hel.4_Frame_Shift_Del_p.K366fs	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	439					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						ATAGCATTCTCTTTATATCTAA	0.421													-	70346623	TT	-	70346622	7	5	264	1	0	1	0	1	0	0	0	0	16958	1606	56	0	273	0	UGT2B4	4	70346622	Frame_Shift_Del	DEL	TT	TCGA-HU-A4G8-01A-11D-A25D-08	529252	70346622	120807654	425	129943											
ENAM	10117	broad.mit.edu	37	chr4	71508435	71508436	+	Frame_Shift_Ins	INS	-	-	A													ggccctgttgttcgcaatgaINSaaaaatccaaaatccaaagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:71508434_71508435G>GA	uc011caw.1	+	8	1572_1573	c.1291_1292G>GA	c.(1291-1293)gaafs	p.E431fs		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	431					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)			TGTTCGCAATGAAAAAATCCAA	0.465													A	71508436	-	A	71508435	7	5	264	1	0	1	1	0	0	0	0	0	5112	246	9	0	1322	0	ENAM	4	71508435	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1161813	71508435	119645841	426	129944											
RUFY3	22902	broad.mit.edu	37	chr4	71660548	71660550	+	In_Frame_Del	DEL	AAG	AAG	-													gaactaaaacaggaaaaagaAagaagattacaaaacgacag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:71660547_71660549AAAG>A	uc003hfr.3	+	13	2088_2090	c.1493_1495AAAG>A	c.(1492-1497)gaaaga>gAga	p.R500del	RUFY3_uc011cay.2_In_Frame_Del_p.R436del	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	335					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)			CAGGAAAAAGAAAGAAGATTACA	0.369													-	71660550	AAG	-	71660548	7	5	264	1	0	1	0	1	0	0	0	0	13740	11	1	0	1991	0	RUFY3	4	71660548	In_Frame_Del	DEL	AAG	TCGA-HU-A4G8-01A-11D-A25D-08	152113	71660548	119493728	427	129945											
PPBP	5473	broad.mit.edu	37	chr4	74853683	74853683	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcctctacctttgcctttCgccaagtttctcttagtttg	8	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:74853683C>T	uc003hhj.2	-	1	218	c.138G>A	c.(136-138)GCG>GCA	p.A46A		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	46					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CTTTGCCTTTCGCCAAGTTTC	0.537													T	74853683	C	T	74853683	2	4	264	1	0	0	0	0	0	0	0	1	12303	871	31	1		1	PPBP	4	74853683	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3193135	74853683	116300593	428	129946											
MTHFD2L	441024	broad.mit.edu	37	chr4	75147154	75147154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttcaggtattccaaagtTgattacgtctgatatggtta	9	5	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:75147154T>C	uc011cbk.1	+	7	845	c.818T>C	c.(817-819)TTG>TCG	p.L273S	MTHFD2L_uc003hhu.2_RNA|uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	215					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			ATTCCAAAGTTGATTACGTCT	0.338													C	75147154	T	C	75147154	3	2	264	1	0	0	0	0	1	0	0	0	9930	1821	63	3	844	3	MTHFD2L	4	75147154	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	293471	75147154	116007122	429	129947											
USO1	8615	broad.mit.edu	37	chr4	76725285	76725285	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaattatgttttgtttcacAggatctccaacttgaggaat	8	6	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76725285A>T	uc003hiu.2	+	17	2162	c.1987_splice	c.e17-2	p.D663_splice	USO1_uc003hiv.2_Splice_Site_p.D505_splice|USO1_uc003hiw.2_Splice_Site_p.D498_splice	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTGTTTCACAGGATCTCCAA	0.373													T	76725285	A	T	76725285	5	4	264	1	0	0	0	0	0	0	1	0	17036	202	7	5	1896	5	USO1	4	76725285	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1578131	76725285	114428991	430	129948											
PPEF2	5470	broad.mit.edu	37	chr4	76787404	76787404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgtactccagcatgttgtCtgctgagctgttcaccagct	9	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76787404C>T	uc003hix.2	-	15	2215	c.1858G>A	c.(1858-1860)GAC>AAC	p.D620N	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	620					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			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGCATGTTGTCTGCTGAGCTG	0.537													T	76787404	C	T	76787404	3	4	264	1	0	0	0	0	1	0	0	0	12308	913	32	4	415	4	PPEF2	4	76787404	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	62119	76787404	114366872	431	129949											
PPEF2	5470	broad.mit.edu	37	chr4	76804135	76804135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatgtctgacaccccacCatgaagaattagaactttct	6	10	2	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76804135C>T	uc003hix.2	-	10	1234	c.877G>A	c.(877-879)GGT>AGT	p.G293S	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.G293S	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	293	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GACACCCCACCATGAAGAATT	0.413													T	76804135	C	T	76804135	3	4	264	1	0	0	0	0	1	0	0	0	12308	594	21	4	1416	4	PPEF2	4	76804135	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	16731	76804135	114350141	432	129950											
NAAA	27163	broad.mit.edu	37	chr4	76836136	76836136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgtagtataaattgtgAagctgaaaattatgaggaaa	9	3	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76836136A>G	uc003hjb.2	-	10	1065	c.1001T>C	c.(1000-1002)TTC>TCC	p.F334S	NAAA_uc003hja.2_Intron	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	334					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						ATAAATTGTGAAGCTGAAAAT	0.413													G	76836136	A	G	76836136	3	3	264	1	0	0	0	0	1	0	0	0	10127	246	9	3	89	3	NAAA	4	76836136	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	32001	76836136	114318140	433	129951											
FRAS1	80144	broad.mit.edu	37	chr4	79353563	79353563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgctctacagtatatacaTgatggttcctctacccggga	8	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:79353563T>C	uc003hlb.2	+	38	5462	c.5022T>C	c.(5020-5022)CAT>CAC	p.H1674H	FRAS1_uc003hkw.2_Silent_p.H1674H|FRAS1_uc010ijj.1_Silent_p.H94H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1673	CSPG 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AGTATATACATGATGGTTCCT	0.448													C	79353563	T	C	79353563	2	2	264	1	0	0	0	0	0	0	0	1	6042	1461	51	3		3	FRAS1	4	79353563	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2517427	79353563	111800713	434	129952											
PRDM8	56978	broad.mit.edu	37	chr4	81124482	81124482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctcgctgtgtctgccCgcgcagaactggtgcgccaa	11	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:81124482C>T	uc010ijo.2	+	8	2705	c.1866C>T	c.(1864-1866)CCC>CCT	p.P622P	PRDM8_uc003hmb.3_Silent_p.P622P|PRDM8_uc003hmc.3_Silent_p.P622P	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGTGTCTGCCCGCGCAGAACT	0.363													T	81124482	C	T	81124482	2	4	264	1	0	0	0	0	0	0	0	1	12462	639	23	1		1	PRDM8	4	81124482	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1770919	81124482	110029794	435	129953											
HPSE	10855	broad.mit.edu	37	chr4	84243432	84243432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttgattccttcttgggatCgaaaattaggaagtctgtct	11	6	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:84243432C>T	uc003hoj.3	-	2	412	c.313G>A	c.(313-315)GAT>AAT	p.D105N	HPSE_uc010ika.2_Missense_Mutation_p.D105N|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_5'UTR|HPSE_uc011cct.1_Missense_Mutation_p.D105N|HPSE_uc003hok.3_Missense_Mutation_p.D105N	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	105					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTCTTGGGATCGAAAATTAGG	0.418													T	84243432	C	T	84243432	3	4	264	1	0	0	0	0	1	0	0	0	7344	884	31	1	1362	1	HPSE	4	84243432	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3118950	84243432	106910844	436	129954											
AFF1	4299	broad.mit.edu	37	chr4	88035747	88035747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgaagccccccaccccGgaaagaggagctgtcagaag	11	16	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:88035747G>A	uc003hqj.3	+	11	2148	c.1741G>A	c.(1741-1743)GGA>AGA	p.G581R	AFF1_uc011ccz.1_Missense_Mutation_p.G588R|AFF1_uc003hqk.3_Missense_Mutation_p.G581R|AFF1_uc011cda.1_Missense_Mutation_p.G219R	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	581						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCCCACCCCGGAAAGAGGAG	0.602													A	88035747	G	A	88035747	3	1	264	1	0	0	0	0	1	0	0	0	356	1117	39	1	1825	1	AFF1	4	88035747	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3792315	88035747	103118529	437	129955											
HERC5	51191	broad.mit.edu	37	chr4	89384739	89384739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaagttgaatttgtcGcttgtggtggctctcacagt	11	7	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:89384739G>A	uc003hrt.2	+	5	898	c.745G>A	c.(745-747)GCT>ACT	p.A249T		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	249	RCC1 3.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGAATTTGTCGCTTGTGGTGG	0.408													A	89384739	G	A	89384739	3	1	264	1	0	0	0	0	1	0	0	0	7061	1087	38	1	763	1	HERC5	4	89384739	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1348992	89384739	101769537	438	129956											
NHEDC2	133308	broad.mit.edu	37	chr4	103947672	103947672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaatgccactgtcaacAcatccattccatagtcttct	3	13	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:103947672A>G	uc003hwx.3	-	12	2341	c.1469T>C	c.(1468-1470)GTG>GCG	p.V490A	NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.V490A|NHEDC2_uc011cew.1_Missense_Mutation_p.V433A|NHEDC2_uc011cex.1_Silent_p.C387C	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	490					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		CACTGTCAACACATCCATTCC	0.428													G	103947672	A	G	103947672	3	3	264	1	0	0	0	0	1	0	0	0	10401	159	6	3	148	3	NHEDC2	4	103947672	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	14562933	103947672	87206604	439	129957											
CENPE	1062	broad.mit.edu	37	chr4	104066443	104066443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttttcctgaacctcacTaatttgttttatattaaatt	2	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:104066443T>C	uc003hxb.1	-	32	4711	c.4621A>G	c.(4621-4623)AGT>GGT	p.S1541G	CENPE_uc003hxc.1_Missense_Mutation_p.S1516G	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1541	Potential.				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			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGAACCTCACTAATTTGTTTT	0.299													C	104066443	T	C	104066443	3	2	264	1	0	0	0	0	1	0	0	0	3230	1522	53	3	3556	3	CENPE	4	104066443	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	118771	104066443	87087833	440	129958											
ANK2	287	broad.mit.edu	37	chr4	114158319	114158319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccacaatgctgacgtAcaatccaaggtacttaaagc	7	10	0	2	rs148143699		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:114158319A>G	uc003ibe.3	+	6	760	c.660A>G	c.(658-660)GTA>GTG	p.V220V	ANK2_uc003ibd.3_Silent_p.V199V|ANK2_uc003ibf.3_Silent_p.V220V|ANK2_uc003ibc.2_Silent_p.V196V|ANK2_uc011cgb.1_Silent_p.V235V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	220	ANK 6.			V -> I (in Ref. 4; CAD97827).	axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCTGACGTACAATCCAAGG	0.483													G	114158319	A	G	114158319	2	3	264	1	0	0	0	0	0	0	0	1	621	378	14	3		3	ANK2	4	114158319	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	10091876	114158319	76995957	441	129959											
ANK2	287	broad.mit.edu	37	chr4	114290831	114290831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctctcccatcatacAagaacccgaagagccctcag	10	14	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:114290831A>G	uc003ibe.3	+	43	11580	c.11480A>G	c.(11479-11481)CAA>CGA	p.Q3827R	ANK2_uc003ibd.3_Missense_Mutation_p.Q1733R|ANK2_uc003ibf.3_Missense_Mutation_p.Q1742R|ANK2_uc011cgc.1_Missense_Mutation_p.Q918R|ANK2_uc003ibg.3_Missense_Mutation_p.Q726R|ANK2_uc003ibh.3_Missense_Mutation_p.Q416R|ANK2_uc011cgd.1_Missense_Mutation_p.Q1129R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3794					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCATCATACAAGAACCCGAA	0.577													G	114290831	A	G	114290831	3	3	264	1	0	0	0	0	1	0	0	0	621	130	5	3	11715	3	ANK2	4	114290831	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	132512	114290831	76863445	442	129960											
PDE5A	8654	broad.mit.edu	37	chr4	120528266	120528266	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagaatccttgacaacAatgggtctaagaggccggtc	10	12	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:120528266A>G	uc003idh.2	-	2	494	c.339T>C	c.(337-339)ATT>ATC	p.I113I	PDE5A_uc003idf.2_Silent_p.I71I|PDE5A_uc003idg.2_Silent_p.I61I	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	113					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CCTTGACAACAATGGGTCTAA	0.502													G	120528266	A	G	120528266	2	3	264	1	0	0	0	0	0	0	0	1	11644	126	5	3		3	PDE5A	4	120528266	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	6237435	120528266	70626010	443	129961											
TNIP3	79931	broad.mit.edu	37	chr4	122078294	122078294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggtcgcgctgcctgtcGtcctctctctgcctgtcgtc	11	16	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:122078294G>A	uc010ing.2	-	4	514	c.318C>T	c.(316-318)GAC>GAT	p.D106D	TNIP3_uc010inh.2_Silent_p.D106D|TNIP3_uc011cgj.1_Silent_p.D164D|TNIP3_uc010ini.2_Silent_p.D106D	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	106	Potential.									ovary(1)	1						GCTGCCTGTCGTCCTCTCTCT	0.647													A	122078294	G	A	122078294	2	1	264	1	0	0	0	0	0	0	0	1	16313	1136	40	1		1	TNIP3	4	122078294	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1550028	122078294	69075982	444	129962											
KIAA1109	84162	broad.mit.edu	37	chr4	123117917	123117917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatattattgcagatgctAcaattgatttgctgtttacc	7	6	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:123117917A>G	uc003ieh.2	+	10	1225	c.1180A>G	c.(1180-1182)ACA>GCA	p.T394A	KIAA1109_uc003iei.1_Missense_Mutation_p.T148A|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	394					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGCAGATGCTACAATTGATTT	0.284													G	123117917	A	G	123117917	3	3	264	1	0	0	0	0	1	0	0	0	8208	391	14	3	1218	3	KIAA1109	4	123117917	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1039623	123117917	68036359	445	129963											
IL21	59067	broad.mit.edu	37	chr4	123536892	123536892	+	Frame_Shift_Del	DEL	T	T	-													aaggtggtttcctcttcagcTttttaattgatacattgatt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:123536891_123536891CT>C	uc003ies.2	-	2	351	c.306_306AG>G	c.(304-306)aagfs	p.K102fs	IL21_uc010int.3_Frame_Shift_Del_p.K102fs	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	95					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCCTCTTCAGCTTTTTAATTG	0.368													-	123536892	T	-	123536892	7	5	264	1	0	1	0	1	0	0	0	0	7670	1609	56	0	195	0	IL21	4	123536892	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	418975	123536892	67617384	446	129964											
NUDT6	11162	broad.mit.edu	37	chr4	123814062	123814062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacagtcctgtgtaaactGctggaagttcttccacagtc	8	10	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:123814062G>A	uc003iew.2	-	5	904	c.872C>T	c.(871-873)GCA>GTA	p.A291V	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Missense_Mutation_p.A122V	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	291						mitochondrion|nucleus	growth factor activity|hydrolase activity				0						TGTGTAAACTGCTGGAAGTTC	0.373													A	123814062	G	A	123814062	3	1	264	1	0	0	0	0	1	0	0	0	10743	1319	46	2	82	2	NUDT6	4	123814062	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	277170	123814062	67340214	447	129965											
FAT4	79633	broad.mit.edu	37	chr4	126238149	126238149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcaccctgaacccgagcGgcgagggagcgttcctgcat	12	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:126238149G>A	uc003ifj.3	+	1	583	c.583G>A	c.(583-585)GGC>AGC	p.G195S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	195	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAACCCGAGCGGCGAGGGAGC	0.647											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126238149	G	A	126238149	3	1	264	1	0	0	0	0	1	0	0	0	5692	1116	39	1	585	1	FAT4	4	126238149	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2424087	126238149	64916127	448	129966											
LARP1B	55132	broad.mit.edu	37	chr4	129012197	129012197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggatgatcaagatgacGtttccagtgtgagaagtgag	14	4	1	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:129012197G>A	uc003iga.2	+	6	531	c.400G>A	c.(400-402)GTT>ATT	p.V134I	LARP1B_uc003ifw.1_Missense_Mutation_p.V87I|LARP1B_uc003ifx.2_Missense_Mutation_p.V134I|LARP1B_uc003ify.2_Missense_Mutation_p.V134I|LARP1B_uc003ifz.1_Missense_Mutation_p.V134I	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	134	Arg-rich.						RNA binding				0						TCAAGATGACGTTTCCAGTGT	0.418													A	129012197	G	A	129012197	3	1	264	1	0	0	0	0	1	0	0	0	8629	1145	40	1	414	1	LARP1B	4	129012197	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2774048	129012197	62142079	449	129967											
PCDH10	57575	broad.mit.edu	37	chr4	134071649	134071649	+	Frame_Shift_Del	DEL	C	C	-													gtgctggacattaatgacaaCcccccctctttcccggagcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:134071648_134071648AC>A	uc003iha.3	+	0	1179	c.353_353AC>A	c.(352-354)aacfs	p.N118fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Del_p.N118fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(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)		ATTAATGACAACCCCCCCTCT	0.602													-	134071649	C	-	134071649	7	5	264	1	0	1	0	1	0	0	0	0	11507	506	18	0	356	0	PCDH10	4	134071649	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	5059452	134071649	57082627	450	129968											
PCDH10	57575	broad.mit.edu	37	chr4	134071927	134071927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggacggaggaggtgggggagGagtaggagaaggagggggag	27	1	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:134071927G>T	uc003iha.2	+	1	1458	c.632G>T	c.(631-633)GGA>GTA	p.G211V	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G211V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	211	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ggtgggggaggagtaggagaa	0.488													T	134071927	G	T	134071927	3	4	264	1	0	0	0	0	1	0	0	0	11507	1174	41	5	634	5	PCDH10	4	134071927	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	278	134071927	57082349	451	129969											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	13	10	0	0	rs62344938		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:140811117C>T	uc003ihz.1	-	2	2225	c.1473G>A	c.(1471-1473)CAG>CAA	p.Q491Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.284													T	140811117	C	T	140811117	2	4	264	1	0	0	0	0	0	0	0	1	9207	796	28	2		2	MAML3	4	140811117	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6739190	140811117	50343159	452	129970											
TBC1D9	23158	broad.mit.edu	37	chr4	141590794	141590794	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagaggcacccaccaatttCgggttgaactcctcgggaga	12	11	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:141590794C>T	uc010ioj.2	-	8	1703	c.1431G>A	c.(1429-1431)CCG>CCA	p.P477P		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	477						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCACCAATTTCGGGTTGAACT	0.463													T	141590794	C	T	141590794	2	4	264	1	0	0	0	0	0	0	0	1	15624	871	31	1		1	TBC1D9	4	141590794	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	779677	141590794	49563482	453	129971											
RNF150	57484	broad.mit.edu	37	chr4	141888838	141888838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaataaaagacgagccatGcgagggaaatgatcatcagg	12	6	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:141888838G>A	uc003iio.1	-	2	1328	c.674C>T	c.(673-675)GCA>GTA	p.A225V	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.A225V	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	225	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					GACGAGCCATGCGAGGGAAAT	0.418													A	141888838	G	A	141888838	3	1	264	1	0	0	0	0	1	0	0	0	13451	1319	46	2	666	2	RNF150	4	141888838	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	298044	141888838	49265438	454	129972											
OTUD4	54726	broad.mit.edu	37	chr4	146071816	146071816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatggggcttttattgGcttgcttggattctttggcc	13	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:146071816G>A	uc003ika.3	-	13	1051	c.913C>T	c.(913-915)CCA>TCA	p.P305S	OTUD4_uc003ijz.3_Missense_Mutation_p.P304S	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	369							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					GCTTTTATTGGCTTGCTTGGA	0.423													A	146071816	G	A	146071816	3	1	264	1	0	0	0	0	1	0	0	0	11314	1203	42	2	2272	2	OTUD4	4	146071816	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4182978	146071816	45082460	455	129973											
FHDC1	85462	broad.mit.edu	37	chr4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-													agaaaaagcggatgagaagcTttttttggaaaactattccg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	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)					GGATGAGAAGCTTTTTTTGGA	0.512													-	153864507	T	-	153864507	7	5	264	1	0	1	0	1	0	0	0	0	5876	1609	56	0	300	0	FHDC1	4	153864507	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	7792691	153864507	37289769	456	129974											
TLR2	7097	broad.mit.edu	37	chr4	154626008	154626008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgtttcttacagtgagcGggatgcctactgggtggaga	14	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:154626008G>A	uc003inq.2	+	3	2168	c.1949G>A	c.(1948-1950)CGG>CAG	p.R650Q	TLR2_uc003inr.2_Missense_Mutation_p.R650Q|TLR2_uc003ins.2_Missense_Mutation_p.R650Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	650	TIR.|Cytoplasmic (Potential).				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			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				TACAGTGAGCGGGATGCCTAC	0.502													A	154626008	G	A	154626008	3	1	264	1	0	0	0	0	1	0	0	0	15948	1116	39	1	1951	1	TLR2	4	154626008	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	761501	154626008	36528268	457	129975											
FGB	2244	broad.mit.edu	37	chr4	155487066	155487066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtggctatcgggctcGtccagccaaagcagctgcca	14	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:155487066G>A	uc003ioa.3	+	2	260	c.221G>A	c.(220-222)CGT>CAT	p.R74H	FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.R71H|FGB_uc010ipv.2_Intron|FGB_uc010ipw.2_Missense_Mutation_p.R71H|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	74			R -> C (in Nijmegen).|Missing (in New York-1).		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			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATCGGGCTCGTCCAGCCAAA	0.587													A	155487066	G	A	155487066	3	1	264	1	0	0	0	0	1	0	0	0	5831	1145	40	1	227	1	FGB	4	155487066	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	861058	155487066	35667210	458	129976											
LRAT	9227	broad.mit.edu	37	chr4	155665965	155665965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggaacaactgcgagCacttcgtgacctactgcaga	11	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:155665965C>T	uc003iom.1	+	1	814	c.487C>T	c.(487-489)CAC>TAC	p.H163Y	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.H163Y	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	163	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CAACTGCGAGCACTTCGTGAC	0.602													T	155665965	C	T	155665965	3	4	264	1	0	0	0	0	1	0	0	0	8930	710	25	2	489	2	LRAT	4	155665965	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	178899	155665965	35488311	459	129977											
PDGFC	56034	broad.mit.edu	37	chr4	157771444	157771444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgtatccatacattttcCtctactgctactaatctcca	3	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:157771444C>A	uc003iph.1	-	2	734	c.243G>T	c.(241-243)GAG>GAT	p.E81D	PDGFC_uc003ipi.1_Translation_Start_Site|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_Translation_Start_Site	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	81	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATACATTTTCCTCTACTGCTA	0.373													A	157771444	C	A	157771444	3	1	264	1	0	0	0	0	1	0	0	0	11659	680	24	5	814	5	PDGFC	4	157771444	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2105479	157771444	33382832	460	129978											
FAM198B	51313	broad.mit.edu	37	chr4	159091752	159091752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggggctagggccacagCggagcacagcgccaggtgcg	17	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:159091752C>T	uc003ipp.3	-	2	1228	c.776G>A	c.(775-777)CGC>CAC	p.R259H	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R259H|FAM198B_uc003ipr.3_Missense_Mutation_p.R259H|FAM198B_uc003ips.2_Missense_Mutation_p.R259H|uc003ipt.1_5'Flank	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	259	Extracellular (Potential).					Golgi membrane|integral to membrane					0						AGGGCCACAGCGGAGCACAGC	0.657											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	159091752	C	T	159091752	3	4	264	1	0	0	0	0	1	0	0	0	5529	768	27	1	904	1	FAM198B	4	159091752	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1320308	159091752	32062524	461	129979											
RXFP1	59350	broad.mit.edu	37	chr4	159568123	159568124	+	Frame_Shift_Ins	INS	-	-	A													ttaacatttctgacattggaINSaaaatacatctgcattgtct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:159568122_159568123G>GA	uc003ipz.3	+	15	1788_1789	c.1525_1526G>GA	c.(1525-1527)gaafs	p.E509fs	RXFP1_uc010iqk.3_Frame_Shift_Ins_p.E377fs|RXFP1_uc011cja.2_Frame_Shift_Ins_p.E404fs|RXFP1_uc010iqo.3_Frame_Shift_Ins_p.E461fs|RXFP1_uc011cjb.2_Frame_Shift_Ins_p.E407fs|RXFP1_uc011cjc.2_Frame_Shift_Ins_p.E428fs|RXFP1_uc011cjd.2_Frame_Shift_Ins_p.E428fs|RXFP1_uc010iql.3_Frame_Shift_Ins_p.E353fs|RXFP1_uc011cje.2_Frame_Shift_Ins_p.E536fs|RXFP1_uc010iqm.3_Frame_Shift_Ins_p.E476fs|RXFP1_uc011cjf.2_Frame_Shift_Ins_p.E378fs|RXFP1_uc010iqn.3_Frame_Shift_Ins_p.E454fs	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	509						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.E509K(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTGACATTGGAAAAATACATC	0.386													A	159568124	-	A	159568123	7	5	264	1	0	1	1	0	0	0	0	0	13759	246	9	0	1588	0	RXFP1	4	159568123	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	476371	159568123	31586153	462	129980											
FNIP2	57600	broad.mit.edu	37	chr4	159789801	159789802	+	Frame_Shift_Ins	INS	-	-	G													ttcccagctgtgaagttttgINSggggcaggaatgaagatgga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:159789800_159789801T>TG	uc003iqe.4	+	12	2195_2196	c.2012_2013T>TG	c.(2011-2013)ttgfs	p.L671fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	671	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)		TGTGAAGTTTTGGGGGCAGGAA	0.52													G	159789802	-	G	159789801	7	5	264	1	0	1	1	0	0	0	0	0	5976	1339	47	0	2063	0	FNIP2	4	159789801	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	221678	159789801	31364475	463	129981											
FSTL5	56884	broad.mit.edu	37	chr4	162307295	162307295	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtaatgtactgaaccctTacaagacctttcacatcatt	5	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:162307295T>C	uc003iqh.2	-	16	2584	c.2148A>G	c.(2146-2148)GTA>GTG	p.V716V	FSTL5_uc003iqi.2_Silent_p.V715V|FSTL5_uc010iqv.2_Silent_p.V706V|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	716						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTGAACCCTTACAAGACCTT	0.423													C	162307295	T	C	162307295	2	2	264	1	0	0	0	0	0	0	0	1	6080	1741	61	3		3	FSTL5	4	162307295	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2517494	162307295	28846981	464	129982											
NPY5R	4889	broad.mit.edu	37	chr4	164272119	164272119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttactgtaagtcatAcaagtgtctgcagaagtata	8	6	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:164272119A>G	uc003iqn.2	+	4	876	c.694A>G	c.(694-696)ACA>GCA	p.T232A		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	232	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTAAGTCATACAAGTGTCTG	0.363													G	164272119	A	G	164272119	3	3	264	1	0	0	0	0	1	0	0	0	10610	391	14	3	696	3	NPY5R	4	164272119	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1964824	164272119	26882157	465	129983											
GALNTL6	442117	broad.mit.edu	37	chr4	173961169	173961170	+	Frame_Shift_Del	DEL	CT	CT	-													tttcatggccagatgtgaccCtctctctgagactcagcagt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:173961168_173961169CCT>C	uc003isv.3	+	12	2459_2460	c.1723_1724CCT>C	c.(1723-1725)cctfs	p.P575fs		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	575	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						CAGATGTGACCCTCTCTCTGAG	0.426													-	173961170	CT	-	173961169	7	5	264	1	0	1	0	1	0	0	0	0	6225	681	24	0	1770	0	GALNTL6	4	173961169	Frame_Shift_Del	DEL	CT	TCGA-HU-A4G8-01A-11D-A25D-08	9689050	173961169	17193107	466	129984											
WDR17	116966	broad.mit.edu	37	chr4	177052881	177052881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaagtgggattttcttAgagacttggtatgtatgtag	12	3	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:177052881A>G	uc003iuj.2	+	8	1318	c.1162A>G	c.(1162-1164)AGA>GGA	p.R388G	WDR17_uc003iuk.2_Missense_Mutation_p.R364G|WDR17_uc003ium.3_Missense_Mutation_p.R364G|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	388										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		GGATTTTCTTAGAGACTTGGT	0.343													G	177052881	A	G	177052881	3	3	264	1	0	0	0	0	1	0	0	0	17274	412	15	3	1188	3	WDR17	4	177052881	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3091712	177052881	14101395	467	129985											
ENPP6	133121	broad.mit.edu	37	chr4	185018479	185018479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgctgccaaccttcccGcctgccggtgctgttcatcc	8	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:185018479G>A	uc003iwc.2	-	7	1178	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	346	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-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;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAACCTTCCCGCCTGCCGGTG	0.592													A	185018479	G	A	185018479	3	1	264	1	0	0	0	0	1	0	0	0	5134	1086	38	1	294	1	ENPP6	4	185018479	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7965598	185018479	6135797	468	129986											
ACSL1	2180	broad.mit.edu	37	chr4	185689544	185689544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaccttgaggtcatccaTgagcagcctgatatctcctt	8	12	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:185689544T>C	uc003iww.2	-	12	1348	c.1054A>G	c.(1054-1056)ATG>GTG	p.M352V	ACSL1_uc011ckm.1_Missense_Mutation_p.M181V|ACSL1_uc003iwt.1_Missense_Mutation_p.M352V|ACSL1_uc003iwu.1_Missense_Mutation_p.M352V|ACSL1_uc011ckn.1_Missense_Mutation_p.M318V|ACSL1_uc003iwv.1_Missense_Mutation_p.M352V|ACSL1_uc003iws.1_5'Flank|ACSL1_uc010ise.1_RNA	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	352	Cytoplasmic (Potential).				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			ovary(2)	2		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)	AGGTCATCCATGAGCAGCCTG	0.463													C	185689544	T	C	185689544	3	2	264	1	0	0	0	0	1	0	0	0	177	1464	51	3	1082	3	ACSL1	4	185689544	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	671065	185689544	5464732	469	129987											
CCDC110	256309	broad.mit.edu	37	chr4	186381015	186381015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatttgtttgatagaatgGcaaatgtcatctaaattttc	6	5	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:186381015G>A	uc003ixu.3	-	6	802	c.726C>T	c.(724-726)TGC>TGT	p.C242C	CCDC110_uc003ixv.3_Silent_p.C205C|CCDC110_uc011ckt.1_Silent_p.C242C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	242						nucleus				central_nervous_system(1)	1		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)		TGATAGAATGGCAAATGTCAT	0.353													A	186381015	G	A	186381015	2	1	264	1	0	0	0	0	0	0	0	1	2747	1195	42	2		2	CCDC110	4	186381015	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	691471	186381015	4773261	470	129988											
FAT1	2195	broad.mit.edu	37	chr4	187541247	187541247	+	Frame_Shift_Del	DEL	A	A	-													cggaacgataacttccgctgAaaaggccgggttccctccat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:187541246_187541246GA>G	uc003izf.3	-	9	6682	c.6494_6494TC>C	c.(6493-6495)tcafs	p.S2165fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2165	Cadherin 19.				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						AACTTCCGCTGAAAAGGCCGG	0.423										HNSCC(5;0.00058)			-	187541247	A	-	187541247	7	5	264	1	0	1	0	1	0	0	0	0	5689	246	9	0	7345	0	FAT1	4	187541247	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1160232	187541247	3613029	471	129989											
FAT1	2195	broad.mit.edu	37	chr4	187541324	187541324	+	Frame_Shift_Del	DEL	T	T	-													aggtgtcaagctcaaattgcTttttcagtgaaatttcaccc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:187541323_187541323CT>C	uc003izf.3	-	9	6605	c.6417_6417AG>G	c.(6415-6417)aagfs	p.K2139fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2139	Cadherin 19.				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						GCTCAAATTGCTTTTTCAGTG	0.423										HNSCC(5;0.00058)			-	187541324	T	-	187541324	7	5	264	1	0	1	0	1	0	0	0	0	5689	1609	56	0	7422	0	FAT1	4	187541324	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	77	187541324	3612952	472	129990											
FAT1	2195	broad.mit.edu	37	chr4	187542246	187542246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatagtccagacttagtaCtgtatgaatagcaccagtgc	8	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:187542246C>T	uc003izf.2	-	10	5682	c.5494G>A	c.(5494-5496)GTA>ATA	p.V1832I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1832	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AGACTTAGTACTGTATGAATA	0.383										HNSCC(5;0.00058)			T	187542246	C	T	187542246	3	4	264	1	0	0	0	0	1	0	0	0	5689	565	20	4	8344	4	FAT1	4	187542246	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	922	187542246	3612030	473	129991											
SLC12A7	10723	broad.mit.edu	37	chr5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-													tcacctccagttcttggtgtGggggggaccgtgctccacgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					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)	GTTCTTGGTGTGGGGGGGACC	0.647													-	1074698	G	-	1074698	7	5	264	1	0	1	0	1	0	0	0	0	14388	1348	47	0	1231	0	SLC12A7	5	1074698	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08		1074698	179840562	474	129992											
SLC6A3	6531	broad.mit.edu	37	chr5	1403165	1403165	+	Frame_Shift_Del	DEL	G	G	-													gaagatgtaggctccgtagtGggggggtctgaaggtcacaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:1403165delG	uc003jck.2	-	13	1760	c.1639delC	c.(1639-1641)CACfs	p.H547fs		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	547					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			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)	GCTCCGTAGTGGGGGGGTCTG	0.617													-	1403165	G	-	1403165	7	5	264	1	0	1	0	1	0	0	0	0	14685	1348	47	0	235	0	SLC6A3	5	1403165	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	328467	1403165	179512095	475	129993											
C5orf49	134121	broad.mit.edu	37	chr5	7851031	7851031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctctttggggtccaggCgccgcggcgggatgtagctg	18	10	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:7851031C>T	uc003jea.3	-	1	234	c.104G>A	c.(103-105)CGC>CAC	p.R35H		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	hypothetical protein LOC134121	35											0						GGGGTCCAGGCGCCGCGGCGG	0.642													T	7851031	C	T	7851031	3	4	264	1	0	0	0	0	1	0	0	0	2307	768	27	1	351	1	C5orf49	5	7851031	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6447866	7851031	173064229	476	129994											
TRIO	7204	broad.mit.edu	37	chr5	14462953	14462953	+	Frame_Shift_Del	DEL	G	G	-													ggagaagaggaaggcgaggaGggggccgacgccgtgcccct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:14462952_14462952AG>A	uc003jff.3	+	35	5591	c.5585_5585AG>A	c.(5584-5586)gagfs	p.E1862fs	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Frame_Shift_Del_p.E1511fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1862					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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase 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)					GAAGGCGAGGAGGGGGCCGAC	0.637													-	14462953	G	-	14462953	7	5	264	1	0	1	0	1	0	0	0	0	16549	991	35	0	5728	0	TRIO	5	14462953	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	6611922	14462953	166452307	477	129995											
ANKH	56172	broad.mit.edu	37	chr5	14758594	14758594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttctctactcaccattgCgtccatgaaaggaaaggcgg	9	11	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:14758594C>T	uc003jfm.3	-	3	758	c.427G>A	c.(427-429)GCA>ACA	p.A143T		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	143	Helical; (Potential).				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			upper_aerodigestive_tract(1)	1						CTCACCATTGCGTCCATGAAA	0.338													T	14758594	C	T	14758594	3	4	264	1	0	0	0	0	1	0	0	0	627	768	27	1	1091	1	ANKH	5	14758594	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	295641	14758594	166156666	478	129996											
MARCH11	441061	broad.mit.edu	37	chr5	16091068	16091068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtccttcctctgccaCactgcataggggctgaaggc	12	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:16091068C>T	uc003jfo.2	-	3	1029	c.816G>A	c.(814-816)GTG>GTA	p.V272V	MARCH11_uc010itw.1_Silent_p.V28V	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	272						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						TCCTCTGCCACACTGCATAGG	0.453													T	16091068	C	T	16091068	2	4	264	1	0	0	0	0	0	0	0	1	9300	465	17	4		4	MARCH11	5	16091068	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1332474	16091068	164824192	479	129997											
CDH9	1007	broad.mit.edu	37	chr5	26881726	26881726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgcagcaaacaacacgActaaaactattaataagaaa	4	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:26881726A>G	uc003jgs.1	-	12	2058	c.1889T>C	c.(1888-1890)GTC>GCC	p.V630A	CDH9_uc011cnv.1_Missense_Mutation_p.V223A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	630	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						AAACAACACGACTAAAACTAT	0.378													G	26881726	A	G	26881726	3	3	264	1	0	0	0	0	1	0	0	0	3117	275	10	3	484	3	CDH9	5	26881726	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	10790658	26881726	154033534	480	129998											
PDZD2	23037	broad.mit.edu	37	chr5	32058196	32058196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatcgtcatggaagtAacactcaacaaaggtgatag	11	7	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:32058196A>G	uc003jhl.2	+	12	2575	c.2187A>G	c.(2185-2187)GTA>GTG	p.V729V	PDZD2_uc003jhm.2_Silent_p.V729V|PDZD2_uc011cnx.1_Silent_p.V555V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	729	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TCATGGAAGTAACACTCAACA	0.468													G	32058196	A	G	32058196	2	3	264	1	0	0	0	0	0	0	0	1	11701	349	13	3		3	PDZD2	5	32058196	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	5176470	32058196	148857064	481	129999											
ZFR	51663	broad.mit.edu	37	chr5	32403354	32403354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacgttgcaactgatgacGtattcacagtacaattgttt	8	7	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:32403354G>A	uc003jhr.1	-	8	1453	c.1373C>T	c.(1372-1374)ACG>ATG	p.T458M		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	458					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		AACTGATGACGTATTCACAGT	0.423													A	32403354	G	A	32403354	3	1	264	1	0	0	0	0	1	0	0	0	17656	1145	40	1	1903	1	ZFR	5	32403354	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	345158	32403354	148511906	482	130000											
NPR3	4883	broad.mit.edu	37	chr5	32712408	32712408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtactcgcacctcacgCgcgtggcgcccgcctacgcc	11	19	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:32712408C>T	uc003jhv.2	+	1	744	c.526C>T	c.(526-528)CGC>TGC	p.R176C	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R176C	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	176	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GCACCTCACGCGCGTGGCGCC	0.672													T	32712408	C	T	32712408	3	4	264	1	0	0	0	0	1	0	0	0	10596	768	27	1	528	1	NPR3	5	32712408	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	309054	32712408	148202852	483	130001											
ADAMTS12	81792	broad.mit.edu	37	chr5	33649731	33649731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatcgtactggagctggCgggacatgatgtacggatgt	17	6	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:33649731C>T	uc003jia.1	-	8	1425	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R421H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	421	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CTGGAGCTGGCGGGACATGAT	0.547										HNSCC(64;0.19)			T	33649731	C	T	33649731	3	4	264	1	0	0	0	0	1	0	0	0	257	768	27	1	3590	1	ADAMTS12	5	33649731	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	937323	33649731	147265529	484	130002											
RAI14	26064	broad.mit.edu	37	chr5	34821836	34821836	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggctttctctttcccaaGgtgctgatagcttattggat	9	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:34821836G>A	uc003jir.2	+	14	1191	c.995_splice	c.e14-1	p.G332_splice	RAI14_uc010iur.2_Splice_Site_p.G303_splice|RAI14_uc011coj.1_Splice_Site_p.G332_splice|RAI14_uc010ius.1_Splice_Site_p.G261_splice|RAI14_uc003jis.2_Splice_Site_p.G335_splice|RAI14_uc003jit.2_Splice_Site_p.G332_splice|RAI14_uc011cok.1_Splice_Site_p.G324_splice	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a							cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					TCTTTCCCAAGGTGCTGATAG	0.363													A	34821836	G	A	34821836	5	1	264	1	0	0	0	0	0	0	1	0	13008	1014	35	4	1109	4	RAI14	5	34821836	Splice_Site	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1172105	34821836	146093424	485	130003											
SPEF2	79925	broad.mit.edu	37	chr5	35705773	35705773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattataggcttcttggacaActggcctttattggagcaat	9	7	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:35705773A>G	uc003jjo.2	+	18	2639	c.2528A>G	c.(2527-2529)AAC>AGC	p.N843S	SPEF2_uc003jjq.3_Missense_Mutation_p.N838S|SPEF2_uc003jjp.1_Missense_Mutation_p.N329S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	843					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTGGACAACTGGCCTTTA	0.294													G	35705773	A	G	35705773	3	3	264	1	0	0	0	0	1	0	0	0	15034	43	2	3	2619	3	SPEF2	5	35705773	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	883937	35705773	145209487	486	130004											
NIPBL	25836	broad.mit.edu	37	chr5	36984875	36984875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggagacgggttctacGggaaatgggtcaaggccagc	15	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:36984875G>A	uc003jkl.3	+	10	2092	c.1593G>A	c.(1591-1593)ACG>ACA	p.T531T	NIPBL_uc003jkk.3_Silent_p.T531T|NIPBL_uc003jkm.1_Silent_p.T410T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	531					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			CGGGTTCTACGGGAAATGGGT	0.463													A	36984875	G	A	36984875	2	1	264	1	0	0	0	0	0	0	0	1	10428	1103	39	1		1	NIPBL	5	36984875	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1279102	36984875	143930385	487	130005											
RICTOR	253260	broad.mit.edu	37	chr5	38947419	38947419	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaatgtaatcatctgAacccccatatgtggcactgg	8	11	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:38947419A>G	uc003jlp.2	-	32	4285	c.4261T>C	c.(4261-4263)TCA>CCA	p.S1421P	RICTOR_uc003jlo.2_Missense_Mutation_p.S1445P|RICTOR_uc010ivf.2_Missense_Mutation_p.S1136P	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1421					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			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					TAATCATCTGAACCCCCATAT	0.373													G	38947419	A	G	38947419	3	3	264	1	0	0	0	0	1	0	0	0	13358	246	9	3	893	3	RICTOR	5	38947419	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1962544	38947419	141967841	488	130006											
RPL37	6167	broad.mit.edu	37	chr5	40834687	40834687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttattgcgacgctttcCaaacgatgacgttcccttcg	8	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:40834687C>T	uc003jme.1	-	2	125	c.25G>A	c.(25-27)GGA>AGA	p.G9R	SNORD72_uc003jmf.1_5'Flank	NM_000997	NP_000988	P61927	RL37_HUMAN	ribosomal protein L37	9					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome				0		Breast(839;0.238)				CGACGCTTTCCAAACGATGAC	0.493													T	40834687	C	T	40834687	3	4	264	1	0	0	0	0	1	0	0	0	13589	603	21	4	280	4	RPL37	5	40834687	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1887268	40834687	140080573	489	130007											
FBXO4	26272	broad.mit.edu	37	chr5	41927195	41927195	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacaaatcattattggaaTgaaactgtaagagatccaat	7	5	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:41927195T>C	uc003jmq.2	+	2	326	c.270T>C	c.(268-270)AAT>AAC	p.N90N	FBXO4_uc003jmp.2_Silent_p.N90N|FBXO4_uc003jmr.2_Silent_p.N90N	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	90	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			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATTATTGGAATGAAACTGTAA	0.378													C	41927195	T	C	41927195	2	2	264	1	0	0	0	0	0	0	0	1	5748	1461	51	3		3	FBXO4	5	41927195	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1092508	41927195	138988065	490	130008											
PARP8	79668	broad.mit.edu	37	chr5	50090969	50090969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaactctaaagtcgcaTagactattgactcgatcttg	7	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:50090969T>C	uc003jon.3	+	13	1328	c.1146T>C	c.(1144-1146)CAT>CAC	p.H382H	PARP8_uc011cpz.1_Silent_p.H274H|PARP8_uc003joo.2_Silent_p.H382H|PARP8_uc003jop.2_Silent_p.H382H	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	382						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TAAAGTCGCATAGACTATTGA	0.453													C	50090969	T	C	50090969	2	2	264	1	0	0	0	0	0	0	0	1	11465	1403	49	3		3	PARP8	5	50090969	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	8163774	50090969	130824291	491	130009											
IL6ST	3572	broad.mit.edu	37	chr5	55237207	55237207	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggactggattcatgctgActgcagttctgtttgaagta	11	7	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:55237207A>G	uc003jqq.2	-	17	2715	c.2460T>C	c.(2458-2460)AGT>AGC	p.S820S	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Silent_p.S759S|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Silent_p.S139S|IL6ST_uc011cqk.1_Silent_p.S531S|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	820	Cytoplasmic (Potential).				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTCATGCTGACTGCAGTTCT	0.403			O		hepatocellular ca								G	55237207	A	G	55237207	2	3	264	1	0	0	0	0	0	0	0	1	7703	272	10	3		3	IL6ST	5	55237207	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	5146238	55237207	125678053	492	130010											
IL6ST	3572	broad.mit.edu	37	chr5	55260022	55260022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctgatgtaaccttcccaaGggcattctctgcttctaccc	6	14	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:55260022G>T	uc003jqq.2	-	6	865	c.610C>A	c.(610-612)CTT>ATT	p.L204I	IL6ST_uc010iwb.2_Missense_Mutation_p.L204I|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_5'UTR|IL6ST_uc003jqr.2_Missense_Mutation_p.L204I|IL6ST_uc010iwf.1_RNA	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	204	Extracellular (Potential).|Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACCTTCCCAAGGGCATTCTCT	0.373			O		hepatocellular ca								T	55260022	G	T	55260022	3	4	264	1	0	0	0	0	1	0	0	0	7703	1000	35	5	2194	5	IL6ST	5	55260022	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	22815	55260022	125655238	493	130011											
ANKRD55	79722	broad.mit.edu	37	chr5	55407273	55407273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgggtgggagactctgCgttctgattggtggaagccc	17	7	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:55407273C>T	uc003jqu.2	-	10	1454	c.1302G>A	c.(1300-1302)ACG>ACA	p.T434T	ANKRD55_uc003jqt.2_Silent_p.T146T	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	433										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGAGACTCTGCGTTCTGATTG	0.502													T	55407273	C	T	55407273	2	4	264	1	0	0	0	0	0	0	0	1	681	755	27	1		1	ANKRD55	5	55407273	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	147251	55407273	125507987	494	130012											
PDE4D	5144	broad.mit.edu	37	chr5	58334702	58334702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttgttggaggccatcTcactgacggagtgcctggtc	12	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:58334702T>C	uc003jsa.2	-	6	1077	c.905A>G	c.(904-906)GAG>GGG	p.E302G	PDE4D_uc003jrx.2_Missense_Mutation_p.E166G|PDE4D_uc003jry.2_5'UTR|PDE4D_uc003jrz.2_Missense_Mutation_p.E238G|PDE4D_uc003jsb.2_Missense_Mutation_p.E241G|PDE4D_uc003jrt.2_5'UTR|PDE4D_uc003jru.2_Missense_Mutation_p.E78G|PDE4D_uc003jrv.2_Missense_Mutation_p.E172G|PDE4D_uc003jrw.2_Missense_Mutation_p.E180G|PDE4D_uc010iwi.1_Intron	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	302					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)	2		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)	GGAGGCCATCTCACTGACGGA	0.627													C	58334702	T	C	58334702	3	2	264	1	0	0	0	0	1	0	0	0	11642	1551	54	3	1564	3	PDE4D	5	58334702	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2927429	58334702	122580558	495	130013											
PDE4D	5144	broad.mit.edu	37	chr5	59284348	59284348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtgatagcaatcagcGgcagaatcttcagggggagg	15	7	3	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:59284348G>A	uc003jsb.2	-	3	452	c.239C>T	c.(238-240)CCG>CTG	p.P80L	PDE4D_uc010iwj.1_Missense_Mutation_p.P80L|PDE4D_uc003jse.1_Missense_Mutation_p.P92L	NM_006203	NP_006194	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 2	Error:Variant_position_missing_in_Q08499_after_alignment					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)	2		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)	AGCAATCAGCGGCAGAATCTT	0.468													A	59284348	G	A	59284348	3	1	264	1	0	0	0	0	1	0	0	0	11642	1116	39	1	2577	1	PDE4D	5	59284348	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	949646	59284348	121630912	496	130014											
KIF2A	3796	broad.mit.edu	37	chr5	61659560	61659560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaatgcacattcatctcGgagccatgcagtgtttcaga	9	10	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:61659560G>A	uc003jsy.3	+	14	1612	c.1301G>A	c.(1300-1302)CGG>CAG	p.R434Q	KIF2A_uc003jsz.3_Missense_Mutation_p.R434Q|KIF2A_uc010iwp.2_Missense_Mutation_p.R415Q|KIF2A_uc003jsx.3_Missense_Mutation_p.R414Q|KIF2A_uc010iwq.2_Missense_Mutation_p.R237Q	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	434	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CATTCATCTCGGAGCCATGCA	0.363													A	61659560	G	A	61659560	3	1	264	1	0	0	0	0	1	0	0	0	8297	1116	39	1	1355	1	KIF2A	5	61659560	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2375212	61659560	119255700	497	130015											
ADAMTS6	11174	broad.mit.edu	37	chr5	64587290	64587290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatcaaggcaagtaccacGgcctgaactgttcaacataa	7	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:64587290G>A	uc003jtp.2	-	11	2192	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R81C	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	460	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAAGTACCACGGCCTGAACTG	0.423													A	64587290	G	A	64587290	3	1	264	1	0	0	0	0	1	0	0	0	270	1116	39	1	2035	1	ADAMTS6	5	64587290	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2927730	64587290	116327970	498	130016											
ERBB2IP	55914	broad.mit.edu	37	chr5	65370920	65370921	+	Frame_Shift_Ins	INS	-	-	C													attatagtcaaatacatcacINSccccctcaggcatctgtggc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:65370919_65370920A>AC	uc003juk.2	+	22	4134_4135	c.3824_3825A>AC	c.(3823-3825)cacfs	p.H1275fs	ERBB2IP_uc011cqx.2_Frame_Shift_Ins_p.H1282fs|ERBB2IP_uc003jui.2_Frame_Shift_Ins_p.H1234fs|ERBB2IP_uc003jul.2_Frame_Shift_Ins_p.H1230fs|ERBB2IP_uc011cqy.2_Frame_Shift_Ins_p.H1234fs|ERBB2IP_uc003juj.2_Intron|ERBB2IP_uc011cqz.2_Frame_Shift_Ins_p.H473fs|ERBB2IP_uc010iwx.2_Frame_Shift_Ins_p.H1278fs	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1275					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)		CAAATACATCACCCCCCTCAGG	0.455													C	65370921	-	C	65370920	7	5	264	1	0	1	1	0	0	0	0	0	5207	506	18	0	3780	0	ERBB2IP	5	65370920	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	783630	65370920	115544340	499	130017											
CD180	4064	broad.mit.edu	37	chr5	66478997	66478997	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atagggaggagacggggtgaGatgatgttaatgctgttggc	18	3	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:66478997G>A	uc003juy.2	-	3	1822	c.1674C>T	c.(1672-1674)ATC>ATT	p.I558I		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	558	LRR 19.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		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)		GACGGGGTGAGATGATGTTAA	0.453													A	66478997	G	A	66478997	2	1	264	1	0	0	0	0	0	0	0	1	2972	932	33	4		4	CD180	5	66478997	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1108077	66478997	114436263	500	130018											
PDE8B	8622	broad.mit.edu	37	chr5	76700591	76700591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaaagagtccattgaCgtgaaatcgatatcatctcg	11	7	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:76700591C>T	uc003kfa.2	+	12	1302	c.1257C>T	c.(1255-1257)GAC>GAT	p.D419D	PDE8B_uc003kfb.2_Silent_p.D399D|PDE8B_uc003kfc.2_Silent_p.D419D|PDE8B_uc003kfd.2_Silent_p.D372D|PDE8B_uc003kfe.2_Silent_p.D322D	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	419					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		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)		AGTCCATTGACGTGAAATCGA	0.353													T	76700591	C	T	76700591	2	4	264	1	0	0	0	0	0	0	0	1	11654	535	19	1		1	PDE8B	5	76700591	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	10221594	76700591	104214669	501	130019											
WDR41	55255	broad.mit.edu	37	chr5	76747154	76747154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacaacacagttcttaGgtatttcaaccaaagcacta	5	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:76747154G>T	uc003kff.1	-	7	835	c.548C>A	c.(547-549)CCT>CAT	p.P183H	WDR41_uc011csy.1_Intron|WDR41_uc011csz.1_Missense_Mutation_p.P128H|WDR41_uc011cta.1_Intron|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	183											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		ACAGTTCTTAGGTATTTCAAC	0.308													T	76747154	G	T	76747154	3	4	264	1	0	0	0	0	1	0	0	0	17291	1000	35	5	859	5	WDR41	5	76747154	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	46563	76747154	104168106	502	130020											
WDR41	55255	broad.mit.edu	37	chr5	76788053	76788053	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgcaacatccgggcaGcggcggcgtcttgcccggtc	14	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:76788053G>T	uc003kff.1	-	1	280	c.-7C>A	c.(-9--5)CGCTG>CGATG		WDR41_uc011csy.1_Translation_Start_Site|WDR41_uc011csz.1_Translation_Start_Site|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CATCCGGGCAGCGGCGGCGTC	0.682													T	76788053	G	T	76788053	1	4	264	1	0	0	0	0	0	0	0	0	17291	986	34	5		5	WDR41	5	76788053	Translation_Start_Site	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	40899	76788053	104127207	503	130021											
CMYA5	202333	broad.mit.edu	37	chr5	79031458	79031458	+	Frame_Shift_Del	DEL	A	A	-													gtgtctagggaagattatggAaaaaaagaaatctcaggcga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:79031457_79031457GA>G	uc003kgc.3	+	1	6941	c.6869_6869GA>G	c.(6868-6870)ggafs	p.G2290fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2290						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)		GAAGATTATGGAAAAAAAGAA	0.343													-	79031458	A	-	79031458	7	5	264	1	0	1	0	1	0	0	0	0	3590	233	9	0	6876	0	CMYA5	5	79031458	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	2243405	79031458	101883802	504	130022											
ACOT12	134526	broad.mit.edu	37	chr5	80689868	80689868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgctcagctcgccgcgCgcagtggcgtgcgccggctg	16	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:80689868C>T	uc003khl.3	-	1	121	c.66G>A	c.(64-66)GCG>GCA	p.A22A	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Silent_p.A22A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	22	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCTCGCCGCGCGCAGTGGCGT	0.582													T	80689868	C	T	80689868	2	4	264	1	0	0	0	0	0	0	0	1	150	755	27	1		1	ACOT12	5	80689868	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1658410	80689868	100225392	505	130023											
SSBP2	23635	broad.mit.edu	37	chr5	80932421	80932421	+	Frame_Shift_Del	DEL	T	T	-													gtggttcccccaatgtgatgTttttttcccatcttatctaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:80932420_80932420GT>G	uc003khp.3	-	2	364	c.153_153AC>C	c.(151-153)aacfs	p.N51fs	SSBP2_uc003khn.3_5'UTR|SSBP2_uc011ctr.2_Frame_Shift_Del_p.N51fs|SSBP2_uc003kho.3_Frame_Shift_Del_p.N51fs|SSBP2_uc011ctp.2_Frame_Shift_Del_p.N51fs|SSBP2_uc011ctq.2_Frame_Shift_Del_p.N51fs	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	51					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCAATGTGATGTTTTTTTCCC	0.318													-	80932421	T	-	80932421	7	5	264	1	0	1	0	1	0	0	0	0	15179	1725	60	0	993	0	SSBP2	5	80932421	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	242553	80932421	99982839	506	130024											
VCAN	1462	broad.mit.edu	37	chr5	82815289	82815289	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccctttagttgatgaattAcctgtcattccaacagagtt	6	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:82815289A>G	uc003kii.3	+	7	1520	c.1164A>G	c.(1162-1164)TTA>TTG	p.L388L	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.L388L|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	388	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		TTGATGAATTACCTGTCATTC	0.423													G	82815289	A	G	82815289	2	3	264	1	0	0	0	0	0	0	0	1	17135	388	14	3		3	VCAN	5	82815289	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1882868	82815289	98099971	507	130025											
LYSMD3	116068	broad.mit.edu	37	chr5	89820956	89820956	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcttgatgtacttcttcGgactttctcttttcctctgg	6	11	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:89820956G>A	uc003kjr.2	-	2	299	c.151C>T	c.(151-153)CGA>TGA	p.R51*	LYSMD3_uc010jaz.1_Nonsense_Mutation_p.R51*|LYSMD3_uc003kjs.1_Nonsense_Mutation_p.R51*	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	51	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GTACTTCTTCGGACTTTCTCT	0.368													A	89820956	G	A	89820956	4	1	264	1	0	0	0	0	0	1	0	0	9126	1124	39	1	777	1	LYSMD3	5	89820956	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7005667	89820956	91094304	508	130026											
NR2F1	7025	broad.mit.edu	37	chr5	92924128	92924128	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgagtacagctgcctcaaAgccatcgtgctgttcacgtc	10	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:92924128A>C	uc003kkj.2	+	2	2656	c.969A>C	c.(967-969)AAA>AAC	p.K323N		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	323					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			urinary_tract(1)|ovary(1)|lung(1)	3		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)		GCTGCCTCAAAGCCATCGTGC	0.463													C	92924128	A	C	92924128	3	2	264	1	0	0	0	0	1	0	0	0	10627	69	3	5	975	5	NR2F1	5	92924128	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3103172	92924128	87991132	509	130027											
RFESD	317671	broad.mit.edu	37	chr5	94989932	94989932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcatgctatggatattcGctgttaccgtaagattttat	7	6	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:94989932G>A	uc003klf.2	+	3	1559	c.167G>A	c.(166-168)CGC>CAC	p.R56H	RFESD_uc003klg.2_Missense_Mutation_p.R109H|RFESD_uc011cun.1_Missense_Mutation_p.R109H|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing isoform 2	56	Rieske 2.|Rieske 1.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		ATGGATATTCGCTGTTACCGT	0.313													A	94989932	G	A	94989932	3	1	264	1	0	0	0	0	1	0	0	0	13249	1087	38	1	336	1	RFESD	5	94989932	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2065804	94989932	85925328	510	130028											
ERAP2	64167	broad.mit.edu	37	chr5	96224963	96224963	+	Frame_Shift_Del	DEL	T	T	-													gcatcactgaagctacttgaTttttatgaaaagtactttga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:96224962_96224962AT>A	uc003kmq.3	+	4	1633	c.923_923AT>A	c.(922-924)gatfs	p.D308fs	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Frame_Shift_Del_p.D308fs|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Frame_Shift_Del_p.D257fs|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	308					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AAGCTACTTGATTTTTATGAA	0.373													-	96224963	T	-	96224963	7	5	264	1	0	1	0	1	0	0	0	0	5204	1490	52	0	938	0	ERAP2	5	96224963	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1235031	96224963	84690297	511	130029											
PAM	5066	broad.mit.edu	37	chr5	102284105	102284105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctttaattgctggcatgtAccttatgatgtctgttgaca	9	8	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:102284105A>G	uc003knw.2	+	8	972	c.599A>G	c.(598-600)TAC>TGC	p.Y200C	PAM_uc003kns.2_Missense_Mutation_p.Y200C|PAM_uc003knt.2_Missense_Mutation_p.Y200C|PAM_uc003knu.2_Missense_Mutation_p.Y200C|PAM_uc003knv.2_Missense_Mutation_p.Y200C|PAM_uc011cuz.1_Missense_Mutation_p.Y103C	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	200	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				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				0		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)	GCTGGCATGTACCTTATGATG	0.328													G	102284105	A	G	102284105	3	3	264	1	0	0	0	0	1	0	0	0	11412	391	14	3	629	3	PAM	5	102284105	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	6059142	102284105	78631155	512	130030											
PAM	5066	broad.mit.edu	37	chr5	102326056	102326056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtggctctagaccctAagaataacctggtgattttc	11	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:102326056A>G	uc003knw.2	+	15	1937	c.1564A>G	c.(1564-1566)AAG>GAG	p.K522E	PAM_uc003kns.2_Missense_Mutation_p.K415E|PAM_uc003knt.2_Missense_Mutation_p.K522E|PAM_uc003knu.2_Missense_Mutation_p.K522E|PAM_uc003knv.2_Missense_Mutation_p.K522E|PAM_uc011cuz.1_Missense_Mutation_p.K425E|PAM_uc003knx.1_Missense_Mutation_p.K125E	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	522	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 1.|Intragranular (Potential).				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				0		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)	TCTAGACCCTAAGAATAACCT	0.398													G	102326056	A	G	102326056	3	3	264	1	0	0	0	0	1	0	0	0	11412	363	13	3	1622	3	PAM	5	102326056	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	41951	102326056	78589204	513	130031											
C5orf30	90355	broad.mit.edu	37	chr5	102612180	102612180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgatacagaagtgctacAgtaccagcttcaacacctaa	7	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:102612180A>G	uc003kog.1	+	3	829	c.560A>G	c.(559-561)CAG>CGG	p.Q187R	C5orf30_uc003koh.1_Missense_Mutation_p.Q187R	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	hypothetical protein LOC90355	187											0		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		GAAGTGCTACAGTACCAGCTT	0.443													G	102612180	A	G	102612180	3	3	264	1	0	0	0	0	1	0	0	0	2290	188	7	3	562	3	C5orf30	5	102612180	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	286124	102612180	78303080	514	130032											
APC	324	broad.mit.edu	37	chr5	112178041	112178041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctgtttctaaaaaaggCccaccccttaagactccagc	6	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:112178041C>T	uc010jby.2	+	16	7130	c.6750C>T	c.(6748-6750)GGC>GGT	p.G2250G	APC_uc011cvt.1_Silent_p.G2232G|APC_uc003kpz.3_Silent_p.G2250G|APC_uc003kpy.3_Silent_p.G2250G|APC_uc010jbz.2_Silent_p.G1967G|APC_uc010jca.2_Silent_p.G1550G	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2250	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)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		CTAAAAAAGGCCCACCCCTTA	0.463		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112178041	C	T	112178041	2	4	264	1	0	0	0	0	0	0	0	1	763	726	26	2		2	APC	5	112178041	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	9565861	112178041	68737219	515	130033											
DMXL1	1657	broad.mit.edu	37	chr5	118485998	118485998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaggttctttctggccaCttacttcattctagtttacc	6	12	5	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:118485998C>T	uc003ksd.2	+	18	4657	c.4476C>T	c.(4474-4476)CAC>CAT	p.H1492H	DMXL1_uc010jcl.1_Silent_p.H1492H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1492										ovary(2)	2		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)		TTTCTGGCCACTTACTTCATT	0.428													T	118485998	C	T	118485998	2	4	264	1	0	0	0	0	0	0	0	1	4594	564	20	4		4	DMXL1	5	118485998	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6307957	118485998	62429262	516	130034											
PRR16	51334	broad.mit.edu	37	chr5	120021789	120021789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatcaaagtgcaggctaaTgcaccgcttattaaaccccc	7	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:120021789T>C	uc003ksq.2	+	2	463	c.300T>C	c.(298-300)AAT>AAC	p.N100N	PRR16_uc003ksp.2_Silent_p.N77N|PRR16_uc003ksr.2_Silent_p.N30N	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	100										pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TGCAGGCTAATGCACCGCTTA	0.527													C	120021789	T	C	120021789	2	2	264	1	0	0	0	0	0	0	0	1	12589	1461	51	3		3	PRR16	5	120021789	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1535791	120021789	60893471	517	130035											
C5orf48	389320	broad.mit.edu	37	chr5	125971812	125971812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgccatggggaagatcGtaaagttgtcttccaaaaag	11	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:125971812G>A	uc003kub.1	+	3	297	c.284G>A	c.(283-285)CGT>CAT	p.R95H		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	hypothetical protein LOC389320	95										ovary(1)	1						GGGGAAGATCGTAAAGTTGTC	0.443													A	125971812	G	A	125971812	3	1	264	1	0	0	0	0	1	0	0	0	2306	1145	40	1	294	1	C5orf48	5	125971812	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5950023	125971812	54943448	518	130036											
MEGF10	84466	broad.mit.edu	37	chr5	126754877	126754877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgttcctctcgctgtggCtgtaaaaatgatgcagtctg	10	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:126754877C>T	uc003kuh.3	+	12	1733	c.1371C>T	c.(1369-1371)GGC>GGT	p.G457G	MEGF10_uc010jdc.1_Silent_p.G457G|MEGF10_uc010jdd.1_Silent_p.G457G|MEGF10_uc003kui.3_Silent_p.G457G	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	457	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 8.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		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)		CTCGCTGTGGCTGTAAAAATG	0.453													T	126754877	C	T	126754877	2	4	264	1	0	0	0	0	0	0	0	1	9460	784	28	2		2	MEGF10	5	126754877	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	783065	126754877	54160383	519	130037											
FBN2	2201	broad.mit.edu	37	chr5	127623049	127623049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagccaatcgggcacgtGcattcataggacccaaaagt	10	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:127623049G>A	uc003kuu.2	-	54	7270	c.6831C>T	c.(6829-6831)TGC>TGT	p.C2277C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2277	EGF-like 38; 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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		TCGGGCACGTGCATTCATAGG	0.488													A	127623049	G	A	127623049	2	1	264	1	0	0	0	0	0	0	0	1	5703	1311	46	2		2	FBN2	5	127623049	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	868172	127623049	53292211	520	130038											
FBN2	2201	broad.mit.edu	37	chr5	127681173	127681173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacactcggtgccccaagcCgccccgacagcacagcagca	9	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:127681173C>T	uc003kuu.2	-	24	3532	c.3093G>A	c.(3091-3093)GCG>GCA	p.A1031A	FBN2_uc003kuv.2_Silent_p.A998A	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1031	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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		TGCCCCAAGCCGCCCCGACAG	0.597													T	127681173	C	T	127681173	2	4	264	1	0	0	0	0	0	0	0	1	5703	639	23	1		1	FBN2	5	127681173	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	58124	127681173	53234087	521	130039											
FBN2	2201	broad.mit.edu	37	chr5	127681221	127681221	+	Frame_Shift_Del	DEL	G	G	-													atgcggaactttccaggaacGgggtggatgcattcatcttc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:127681220_127681220CG>C	uc003kuu.3	-	23	3485	c.3046_3046CG>G	c.(3046-3048)gttfs	p.V1016fs	FBN2_uc003kuv.2_Frame_Shift_Del_p.V983fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1016	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)		TTTCCAGGAACGGGGTGGATG	0.532													-	127681221	G	-	127681221	7	5	264	1	0	1	0	1	0	0	0	0	5703	1103	39	0	5861	0	FBN2	5	127681221	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	48	127681221	53234039	522	130040											
ADAMTS19	171019	broad.mit.edu	37	chr5	128958012	128958012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgccagatcctttttgggCcattggcttctttttgtcag	9	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:128958012C>T	uc003kvb.1	+	10	1723	c.1723C>T	c.(1723-1725)CCA>TCA	p.P575S	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		CCTTTTTGGGCCATTGGCTTC	0.448													T	128958012	C	T	128958012	3	4	264	1	0	0	0	0	1	0	0	0	264	739	26	2	1761	2	ADAMTS19	5	128958012	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1276791	128958012	51957248	523	130041											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983569	128983569	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtgctgggatcagcagtCgagagcgcaaatgtcctggg	16	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:128983569C>T	uc003kvb.1	+	12	1966	c.1966C>T	c.(1966-1968)CGA>TGA	p.R656*	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	656	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		GATCAGCAGTCGAGAGCGCAA	0.507													T	128983569	C	T	128983569	4	4	264	1	0	0	0	0	0	1	0	0	264	876	31	1	2012	1	ADAMTS19	5	128983569	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	25557	128983569	51931691	524	130042											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334415	132334415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctgaggatgaggaacTagaggagctttcatcagtgt	16	5	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:132334415T>C	uc003kyh.2	-	5	450	c.439A>G	c.(439-441)AGT>GGT	p.S147G	ZCCHC10_uc003kyg.2_Missense_Mutation_p.S125G|ZCCHC10_uc011cxl.1_Missense_Mutation_p.S111G	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	147	Ser-rich.						nucleic acid binding|zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			gatgaggaactagaggagCTT	0.353													C	132334415	T	C	132334415	3	2	264	1	0	0	0	0	1	0	0	0	17576	1522	53	3	143	3	ZCCHC10	5	132334415	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3350846	132334415	48580845	525	130043											
CATSPER3	347732	broad.mit.edu	37	chr5	134344663	134344663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgggtgtgatgatcatgCacacagaggtgaggccacac	14	9	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:134344663C>T	uc003lag.2	+	5	876	c.808C>T	c.(808-810)CAC>TAC	p.H270Y		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	270					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGATCATGCACACAGAGGT	0.547													T	134344663	C	T	134344663	3	4	264	1	0	0	0	0	1	0	0	0	2689	710	25	2	826	2	CATSPER3	5	134344663	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2010248	134344663	46570597	526	130044											
NEUROG1	4762	broad.mit.edu	37	chr5	134870851	134870851	+	Frame_Shift_Del	DEL	G	G	-													ccgcgtcgctggcggggcttGggggaccgggcaggcagggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:134870851delG	uc003lax.2	-	1	789	c.530delC	c.(529-531)CCAfs	p.P177fs		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	177					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGGGGCTTGGGGGACCGGG	0.751													-	134870851	G	-	134870851	7	5	264	1	0	1	0	1	0	0	0	0	10352	1348	47	0	187	0	NEUROG1	5	134870851	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	526188	134870851	46044409	527	130045											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	264	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	3893524	138764375	42150885	528	130046											
PSD2	84249	broad.mit.edu	37	chr5	139193288	139193288	+	Frame_Shift_Del	DEL	G	G	-													aagatggccctcagggcccaGggggggatgaggatgatgat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:139193287_139193287AG>A	uc003leu.1	+	2	970	c.765_765AG>A	c.(763-765)ccafs	p.P255fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	255					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)			CTCAGGGCCCAGGGGGGGATG	0.617													-	139193288	G	-	139193288	7	5	264	1	0	1	0	1	0	0	0	0	12647	1000	35	0	772	0	PSD2	5	139193288	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	428913	139193288	41721972	529	130047											
SLC35A4	113829	broad.mit.edu	37	chr5	139947265	139947265	+	Frame_Shift_Del	DEL	C	C	-													ccgggaacacccttcccagtCcccctccagcagctgctgcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:139947264_139947264TC>T	uc003lgg.1	+	2	1238	c.510_510TC>T	c.(508-510)agtfs	p.S170fs	SLC35A4_uc003lgh.1_Frame_Shift_Del_p.S170fs|SLC35A4_uc021yei.1_Frame_Shift_Del_p.S170fs	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	170	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)			CCCTTCCCAGTCCCCCTCCAG	0.632													-	139947265	C	-	139947265	7	5	264	1	0	1	0	1	0	0	0	0	14573	855	30	0	513	0	SLC35A4	5	139947265	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	753977	139947265	40967995	530	130048											
SLC35A4	113829	broad.mit.edu	37	chr5	139947548	139947548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggcactaaatggacTgctcatgtctgctgtcatga	11	10	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:139947548T>G	uc003lgg.1	+	3	1522	c.794T>G	c.(793-795)CTG>CGG	p.L265R	SLC35A4_uc003lgh.1_Missense_Mutation_p.L265R	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	265	Helical; (Potential).|Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAATGGACTGCTCATGTCT	0.592													G	139947548	T	G	139947548	3	3	264	1	0	0	0	0	1	0	0	0	14573	1580	55	5	796	5	SLC35A4	5	139947548	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	283	139947548	40967712	531	130049											
PCDHA6	56142	broad.mit.edu	37	chr5	140208920	140208920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggacagtgccctggaccGcgagagcgtgtcggcctatg	16	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140208920G>A	uc003lho.2	+	1	1271	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.R415H|PCDHA6_uc011dab.1_Missense_Mutation_p.R415H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	415	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGCGAGAGCGTG	0.627													A	140208920	G	A	140208920	3	1	264	1	0	0	0	0	1	0	0	0	11528	1087	38	1	1246	1	PCDHA6	5	140208920	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	261372	140208920	40706340	532	130050											
PCDHA7	56141	broad.mit.edu	37	chr5	140215835	140215835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgcgagcatcccgttcCgcgtggggctgtacactggt	15	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140215835C>T	uc003lhq.2	+	1	1867	c.1867C>T	c.(1867-1869)CGC>TGC	p.R623C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R623C	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTCCGCGTGGGGCT	0.627													T	140215835	C	T	140215835	3	4	264	1	0	0	0	0	1	0	0	0	11529	652	23	1	1869	1	PCDHA7	5	140215835	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6915	140215835	40699425	533	130051											
PCDHAC2	56134	broad.mit.edu	37	chr5	140255609	140255609	+	Frame_Shift_Del	DEL	A	A	-													tttgagcttaaaataaaaacAaaaaaagataaaagtatatt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140255608_140255608CA>C	uc003lic.2	+	0	678	c.551_551CA>C	c.(550-552)acafs	p.T184fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Frame_Shift_Del_p.T184fs	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	199	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q183H(1)		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)			AAAATAAAAACAAAAAAAGAT	0.368													-	140255609	A	-	140255609	7	5	264	1	0	1	0	1	0	0	0	0	11533	117	5	0		0	PCDHAC2	5	140255609	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	39774	140255609	40659651	534	130052											
PCDHA12	56137	broad.mit.edu	37	chr5	140256507	140256507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggcatgggacgcggacGcgcagaagaacgcgctggtg	18	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140256507G>A	uc003lic.2	+	1	1577	c.1450G>A	c.(1450-1452)GCG>ACG	p.A484T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A484T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGAAGAA	0.662													A	140256507	G	A	140256507	3	1	264	1	0	0	0	0	1	0	0	0	11522	1087	38	1	1452	1	PCDHA12	5	140256507	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	898	140256507	40658753	535	130053											
PCDHA13	56136	broad.mit.edu	37	chr5	140263263	140263263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaaaacaatccgccGggctgccacatcttcacggt	11	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140263263G>A	uc003lif.2	+	1	1410	c.1410G>A	c.(1408-1410)CCG>CCA	p.P470P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P470P|PCDHA13_uc003lid.2_Silent_p.P470P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	470	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCCGCCGGGCTGCCACA	0.682													A	140263263	G	A	140263263	2	1	264	1	0	0	0	0	0	0	0	1	11523	1103	39	1		1	PCDHA13	5	140263263	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6756	140263263	40651997	536	130054											
PCDHB3	56132	broad.mit.edu	37	chr5	140481929	140481929	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgtgctgtacccgctgCagaacggctccgcgccctgc	11	18	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140481929C>T	uc003lio.2	+	1	1696	c.1696C>T	c.(1696-1698)CAG>TAG	p.Q566*	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	566	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTACCCGCTGCAGAACGGCTC	0.711													T	140481929	C	T	140481929	4	4	264	1	0	0	0	0	0	1	0	0	11543	711	25	2	1698	2	PCDHB3	5	140481929	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	218666	140481929	40433331	537	130055											
PCDHB4	56131	broad.mit.edu	37	chr5	140503537	140503537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgagcctccgcgctcgGccaccgccacgctgcacgtg	13	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140503537G>A	uc003lip.1	+	1	1957	c.1957G>A	c.(1957-1959)GCC>ACC	p.A653T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	653	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGCTCGGCCACCGCCAC	0.701													A	140503537	G	A	140503537	3	1	264	1	0	0	0	0	1	0	0	0	11544	1203	42	2	1959	2	PCDHB4	5	140503537	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	21608	140503537	40411723	538	130056											
PCDHB8	56128	broad.mit.edu	37	chr5	140559250	140559250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccggctttgagcagcgaGgcgctggtgcgcgtgctggt	17	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140559250G>T	uc011dai.1	+	1	1821	c.1635G>T	c.(1633-1635)GAG>GAT	p.E545D	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	545	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCAGCGAGGCGCTGGTGC	0.697													T	140559250	G	T	140559250	3	4	264	1	0	0	0	0	1	0	0	0	11548	991	35	5	1637	5	PCDHB8	5	140559250	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	55713	140559250	40356010	539	130057											
PCDHB12	56124	broad.mit.edu	37	chr5	140589805	140589805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacataaccgtgctggtctcCgacgtcaatgacaacgcccc	8	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140589805C>T	uc003liz.2	+	1	1515	c.1326C>T	c.(1324-1326)TCC>TCT	p.S442S	PCDHB12_uc011dak.1_Silent_p.S105S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	442	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCTCCGACGTCAATG	0.597													T	140589805	C	T	140589805	2	4	264	1	0	0	0	0	0	0	0	1	11537	639	23	1		1	PCDHB12	5	140589805	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	30555	140589805	40325455	540	130058											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744719	140744719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagatgagggaataaaCgggaaattgacctactcttt	10	7	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140744719C>T	uc003lju.1	+	1	822	c.822C>T	c.(820-822)AAC>AAT	p.N274N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.N274N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	274	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGAATAAACGGGAAATTGA	0.478													T	140744719	C	T	140744719	2	4	264	1	0	0	0	0	0	0	0	1	11557	535	19	1		1	PCDHGA5	5	140744719	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	154914	140744719	40170541	541	130059											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755384	140755384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactggcgtggagctggcGccccgctccgcagagcccgg	15	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140755384G>A	uc003ljy.1	+	1	1734	c.1734G>A	c.(1732-1734)GCG>GCA	p.A578A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A578A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	578	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCGCTCCG	0.657													A	140755384	G	A	140755384	2	1	264	1	0	0	0	0	0	0	0	1	11558	1074	38	1		1	PCDHGA6	5	140755384	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	10665	140755384	40159876	542	130060											
PCDHGA10	56106	broad.mit.edu	37	chr5	140792938	140792938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccgggagctggcggagCgcggagtccgcatagtctcc	16	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140792938C>T	uc003lkl.1	+	1	196	c.196C>T	c.(196-198)CGC>TGC	p.R66C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.R66C	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	66	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCGGAGCGCGGAGTCCG	0.607													T	140792938	C	T	140792938	3	4	264	1	0	0	0	0	1	0	0	0	11551	768	27	1	198	1	PCDHGA10	5	140792938	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	37554	140792938	40122322	543	130061											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798759	140798759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccctgcacattactgacGtcaatgacaacgcgccggtt	8	13	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140798759G>A	uc003lkn.1	+	1	1478	c.1333G>A	c.(1333-1335)GTC>ATC	p.V445I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.V445I|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	445	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTACTGACGTCAATGACAA	0.572													A	140798759	G	A	140798759	3	1	264	1	0	0	0	0	1	0	0	0	11568	1145	40	1	1335	1	PCDHGB7	5	140798759	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5821	140798759	40116501	544	130062											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801792	140801792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctctttaccaccacgaCgatgttgatcactgttgtgg	10	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140801792C>T	uc003lkq.1	+	1	1256	c.998C>T	c.(997-999)ACG>ATG	p.T333M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.T333M|PCDHGA11_uc003lkp.1_Missense_Mutation_p.T333M	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	333	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACCACGACGATGTTGATC	0.413													T	140801792	C	T	140801792	3	4	264	1	0	0	0	0	1	0	0	0	11552	536	19	1	1000	1	PCDHGA11	5	140801792	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3033	140801792	40113468	545	130063											
PCDHGC3	5098	broad.mit.edu	37	chr5	140855830	140855830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggtttcgctgtgggcaaCgtggtcgcgaaccttggttt	15	8	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140855830C>T	uc003lkv.1	+	1	262	c.147C>T	c.(145-147)AAC>AAT	p.N49N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.N49N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	49	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCAACGTGGTCGCGA	0.552													T	140855830	C	T	140855830	2	4	264	1	0	0	0	0	0	0	0	1	11569	535	19	1		1	PCDHGC3	5	140855830	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	54038	140855830	40059430	546	130064											
RELL2	285613	broad.mit.edu	37	chr5	141017821	141017821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacagcctgacctggaacCgccccaacatgggctatata	8	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:141017821C>T	uc003lli.2	+	2	877	c.29C>T	c.(28-30)CCG>CTG	p.P10L	HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.2_Missense_Mutation_p.P10L|RELL2_uc003llg.2_Intron|RELL2_uc010jgf.2_Intron	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	RELT-like 2	10						integral to membrane|plasma membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGGAACCGCCCCAACAT	0.627													T	141017821	C	T	141017821	3	4	264	1	0	0	0	0	1	0	0	0	13219	652	23	1	31	1	RELL2	5	141017821	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	161991	141017821	39897439	547	130065											
PPP2R2B	5521	broad.mit.edu	37	chr5	146257587	146257587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcgcatagctgtggtcGcgcaggaaactgttgttgat	14	8	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:146257587G>A	uc003loe.2	-	1	573	c.48C>T	c.(46-48)CGC>CGT	p.R16R	PPP2R2B_uc010jgm.2_5'UTR|PPP2R2B_uc003log.3_Silent_p.R16R|PPP2R2B_uc003lof.3_Silent_p.R16R|PPP2R2B_uc003loi.3_Intron|PPP2R2B_uc003loh.3_Silent_p.R16R|PPP2R2B_uc003loj.3_Intron|PPP2R2B_uc003lok.3_Intron|PPP2R2B_uc011dbu.1_Intron|PPP2R2B_uc011dbv.1_Silent_p.R74R	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	16					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGTGGTCGCGCAGGAAAC	0.597													A	146257587	G	A	146257587	2	1	264	1	0	0	0	0	0	0	0	1	12385	1074	38	1		1	PPP2R2B	5	146257587	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5239766	146257587	34657673	548	130066											
SYNPO	11346	broad.mit.edu	37	chr5	150028582	150028582	+	Frame_Shift_Del	DEL	G	G	-													cttttgggatccaggcgccaGggggcaccagccagatggag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:150028581_150028581AG>A	uc003lsn.3	+	2	1850	c.1476_1476AG>A	c.(1474-1476)ccafs	p.P492fs	SYNPO_uc021yfu.1_Frame_Shift_Del_p.P492fs|SYNPO_uc003lso.4_Frame_Shift_Del_p.P248fs|SYNPO_uc003lsp.3_Frame_Shift_Del_p.P248fs|SYNPO_uc021yfv.1_Frame_Shift_Del_p.P248fs	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	492					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)			TCCAGGCGCCAGGGGGCACCA	0.642													-	150028582	G	-	150028582	7	5	264	1	0	1	0	1	0	0	0	0	15453	1000	35	0	1483	0	SYNPO	5	150028582	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	3770995	150028582	30886678	549	130067											
NMUR2	56923	broad.mit.edu	37	chr5	151784218	151784218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctctgcagtttggcgcGgaacgggtgtaggatggcca	18	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:151784218G>A	uc003luv.2	-	1	623	c.457C>T	c.(457-459)CGC>TGC	p.R153C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	153	Cytoplasmic (Potential).				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			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGTTTGGCGCGGAACGGGTGT	0.637													A	151784218	G	A	151784218	3	1	264	1	0	0	0	0	1	0	0	0	10507	1116	39	1	806	1	NMUR2	5	151784218	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1755636	151784218	29131042	550	130068											
GRIA1	2890	broad.mit.edu	37	chr5	153030057	153030057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgaatcagaacgcctcAatgctatcttgggccaggta	10	10	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:153030057A>G	uc003lva.3	+	4	993	c.628A>G	c.(628-630)AAT>GAT	p.N210D	GRIA1_uc003luy.3_Missense_Mutation_p.N210D|GRIA1_uc003luz.3_Missense_Mutation_p.N115D|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.N130D|GRIA1_uc011dcx.1_Missense_Mutation_p.N141D|GRIA1_uc011dcy.1_Missense_Mutation_p.N220D|GRIA1_uc011dcz.1_Missense_Mutation_p.N220D|GRIA1_uc010jia.1_Missense_Mutation_p.N190D	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	210	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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)	AGAACGCCTCAATGCTATCTT	0.517													G	153030057	A	G	153030057	3	3	264	1	0	0	0	0	1	0	0	0	6767	130	5	3	642	3	GRIA1	5	153030057	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1245839	153030057	27885203	551	130069											
GRIA1	2890	broad.mit.edu	37	chr5	153085522	153085522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgaagagtttgaggaagGacgggaccagacaaccagtg	15	7	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:153085522G>A	uc003lva.3	+	11	2083	c.1718G>A	c.(1717-1719)GGA>GAA	p.G573E	GRIA1_uc003luy.3_Missense_Mutation_p.G573E|GRIA1_uc003luz.3_Missense_Mutation_p.G478E|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G493E|GRIA1_uc011dcx.1_Missense_Mutation_p.G504E|GRIA1_uc011dcy.1_Missense_Mutation_p.G583E|GRIA1_uc011dcz.1_Missense_Mutation_p.G583E|GRIA1_uc010jia.1_Missense_Mutation_p.G553E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	573	Cytoplasmic (Potential).				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			ovary(4)|skin(2)	6		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)	TTTGAGGAAGGACGGGACCAG	0.488													A	153085522	G	A	153085522	3	1	264	1	0	0	0	0	1	0	0	0	6767	1174	41	4	1760	4	GRIA1	5	153085522	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	55465	153085522	27829738	552	130070											
CNOT8	9337	broad.mit.edu	37	chr5	154250333	154250333	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actttgcagagctgcttatgAcatcaggagtggttctctgt	11	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:154250333A>T	uc003lvu.2	+	5	903	c.424A>T	c.(424-426)ACA>TCA	p.T142S	CNOT8_uc011ddf.1_Missense_Mutation_p.T36S|CNOT8_uc011ddg.1_Missense_Mutation_p.T36S|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.T142S|CNOT8_uc010jig.2_Missense_Mutation_p.T36S|CNOT8_uc010jif.2_Missense_Mutation_p.T36S|CNOT8_uc003lvw.2_Missense_Mutation_p.T142S|CNOT8_uc011ddi.1_Missense_Mutation_p.T36S|CNOT8_uc011ddj.1_Intron	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	142					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				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGCTTATGACATCAGGAGT	0.453								Direct_reversal_of_damage					T	154250333	A	T	154250333	3	4	264	1	0	0	0	0	1	0	0	0	3625	275	10	5	434	5	CNOT8	5	154250333	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1164811	154250333	26664927	553	130071											
SGCD	6444	broad.mit.edu	37	chr5	156186283	156186283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctcatggatcctacaCgcctacaggaacgaggcaga	10	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:156186283C>T	uc003lwd.3	+	8	1228	c.752C>T	c.(751-753)ACG>ATG	p.T251M	SGCD_uc003lwc.3_Missense_Mutation_p.T252M	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 3	251	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATCCTACACGCCTACAGGA	0.498													T	156186283	C	T	156186283	3	4	264	1	0	0	0	0	1	0	0	0	14201	536	19	1	857	1	SGCD	5	156186283	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1935950	156186283	24728977	554	130072											
ADRA1B	147	broad.mit.edu	37	chr5	159399041	159399041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgggtgccagtgccgcGgccgcggccgccgccgacgc	16	19	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:159399041G>A	uc003lxt.1	+	2	1278	c.1105G>A	c.(1105-1107)GGC>AGC	p.G369S		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	369	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCAGTgccgcggccgcggccg	0.522													A	159399041	G	A	159399041	3	1	264	1	0	0	0	0	1	0	0	0	335	1116	39	1	1111	1	ADRA1B	5	159399041	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3212758	159399041	21516219	555	130073											
ATP10B	23120	broad.mit.edu	37	chr5	160044942	160044942	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttttgggtccgggctcGgatttttctcagcttctttt	10	9	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:160044942G>A	uc003lym.1	-	16	3302	c.2455C>T	c.(2455-2457)CGA>TGA	p.R819*	ATP10B_uc010jit.1_Nonsense_Mutation_p.R136*|ATP10B_uc003lyn.2_Nonsense_Mutation_p.R377*	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	819	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			GTCCGGGCTCGGATTTTTCTC	0.473													A	160044942	G	A	160044942	4	1	264	1	0	0	0	0	0	1	0	0	1117	1124	39	1	1974	1	ATP10B	5	160044942	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	645901	160044942	20870318	556	130074											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766919	171766919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcaagtttttctcgatcAcctgcaagggaggatagaga	10	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:171766919A>G	uc003mbr.2	-	13	1361	c.1190T>C	c.(1189-1191)GTG>GCG	p.V397A		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	397	SH3 3.				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			ovary(3)|skin(1)	4	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)			TTTCTCGATCACCTGCAAGGG	0.517													G	171766919	A	G	171766919	3	3	264	1	0	0	0	0	1	0	0	0	14257	173	6	3	1549	3	SH3PXD2B	5	171766919	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	11721977	171766919	9148341	557	130075											
STC2	8614	broad.mit.edu	37	chr5	172755134	172755134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgtcggtcccccgcgcCgggtcaaaggtggccaacac	15	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:172755134C>T	uc003mco.1	-	1	1373	c.63G>A	c.(61-63)CCG>CCA	p.P21P	STC2_uc003mcn.1_5'Flank	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	21					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	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)			TCCCCCGCGCCGGGTCAAAGG	0.622													T	172755134	C	T	172755134	2	4	264	1	0	0	0	0	0	0	0	1	15275	639	23	1		1	STC2	5	172755134	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	988215	172755134	8160126	558	130076											
CDHR2	54825	broad.mit.edu	37	chr5	176017111	176017111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaccaggactacagtatAcattgtggacattcaggaca	10	9	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176017111A>G	uc003mem.1	+	25	3305	c.3239A>G	c.(3238-3240)TAC>TGC	p.Y1080C	CDHR2_uc003men.1_Missense_Mutation_p.Y1080C	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1080	Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						ACTACAGTATACATTGTGGAC	0.607													G	176017111	A	G	176017111	3	3	264	1	0	0	0	0	1	0	0	0	3119	391	14	3	3333	3	CDHR2	5	176017111	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3261977	176017111	4898149	559	130077											
GPRIN1	114787	broad.mit.edu	37	chr5	176025264	176025264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccagacctgccttctcCgaggacaggggatctccttt	10	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176025264C>T	uc003meo.1	-	2	1747	c.1572G>A	c.(1570-1572)TCG>TCA	p.S524S		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	524						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCTTCTCCGAGGACAGGG	0.652													T	176025264	C	T	176025264	2	4	264	1	0	0	0	0	0	0	0	1	6729	639	23	1		1	GPRIN1	5	176025264	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	8153	176025264	4889996	560	130078											
UNC5A	90249	broad.mit.edu	37	chr5	176289759	176289759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgtgtgcaaggccgtgCccgccacgcagatcttcttc	11	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176289759C>T	uc003mey.2	+	2	397	c.205C>T	c.(205-207)CCC>TCC	p.P69S	UNC5A_uc003mex.1_Missense_Mutation_p.P69S|UNC5A_uc010jkg.1_5'UTR	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	69	Ig-like.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	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)			CAAGGCCGTGCCCGCCACGCA	0.632													T	176289759	C	T	176289759	3	4	264	1	0	0	0	0	1	0	0	0	16988	739	26	2	211	2	UNC5A	5	176289759	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	264495	176289759	4625501	561	130079											
DDX41	51428	broad.mit.edu	37	chr5	176942216	176942216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccctggatctgaatgggTgttgggtggtgaatgccttt	15	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176942216T>C	uc003mho.2	-	7	636	c.615A>G	c.(613-615)ACA>ACG	p.T205T	DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Silent_p.T74T|DDX41_uc003mhp.2_Silent_p.T74T|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	205	Q motif.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			TCTGAATGGGTGTTGGGTGGT	0.483													C	176942216	T	C	176942216	2	2	264	1	0	0	0	0	0	0	0	1	4361	1683	59	3		3	DDX41	5	176942216	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	652457	176942216	3973044	562	130080											
B4GALT7	11285	broad.mit.edu	37	chr5	177035941	177035941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggaatcacaactgggTacaagacatttcgccacctg	9	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:177035941T>C	uc003mhy.2	+	5	794	c.754T>C	c.(754-756)TAC>CAC	p.Y252H	B4GALT7_uc003mhz.2_Missense_Mutation_p.Y138H	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	252	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	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)			CACAACTGGGTACAAGACATT	0.622													C	177035941	T	C	177035941	3	2	264	1	0	0	0	0	1	0	0	0	1276	1638	57	3	772	3	B4GALT7	5	177035941	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	93725	177035941	3879319	563	130081											
ADAMTS2	9509	broad.mit.edu	37	chr5	178770846	178770846	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgacgtagagacagctcccGagcaggggctccacgcgggt	15	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:178770846G>A	uc003mjw.2	-	2	456	c.456C>T	c.(454-456)CTC>CTT	p.L152L	ADAMTS2_uc011dgm.1_Silent_p.L152L	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	152					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		GACAGCTCCCGAGCAGGGGCT	0.692													A	178770846	G	A	178770846	2	1	264	1	0	0	0	0	0	0	0	1	265	1045	37	1		1	ADAMTS2	5	178770846	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1734905	178770846	2144414	564	130082											
MGAT4B	11282	broad.mit.edu	37	chr5	179226008	179226008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcccagaagaagtcctcGcgcaggtaggctttctccag	12	12	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:179226008G>A	uc003mks.2	-	11	1632	c.1263C>T	c.(1261-1263)CGC>CGT	p.R421R	MGAT4B_uc003mkp.2_Silent_p.R275R|MGAT4B_uc003mkq.2_Nonsense_Mutation_p.R197*|MGAT4B_uc003mkr.2_Silent_p.R436R|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	421	Lumenal (Potential).				N-glycan processing|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				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAGTCCTCGCGCAGGTAGG	0.612													A	179226008	G	A	179226008	2	1	264	1	0	0	0	0	0	0	0	1	9546	1074	38	1		1	MGAT4B	5	179226008	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	455162	179226008	1689252	565	130083											
TRIM41	90933	broad.mit.edu	37	chr5	180661717	180661718	+	Frame_Shift_Del	DEL	GT	GT	-													ggctgccttcctgggcgagcGtgtctttcctttcttccggg					rs145706667		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:180661716_180661717CGT>C	uc003mne.2	+	5	2571_2572	c.1834_1835CGT>C	c.(1834-1836)cgtfs	p.R612fs	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Frame_Shift_Del_p.R192fs	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	612	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|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)			CCTGGGCGAGCGTGTCTTTCCT	0.609													-	180661718	GT	-	180661717	7	5	264	1	0	1	0	1	0	0	0	0	16513	1145	40	0	1857	0	TRIM41	5	180661717	Frame_Shift_Del	DEL	GT	TCGA-HU-A4G8-01A-11D-A25D-08	1435709	180661717	253543	566	130084											
GNB2L1	10399	broad.mit.edu	37	chr5	180666109	180666109	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatccatctggagagacagtCaccgtgttcagatagcctgt	11	10	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:180666109C>T	uc003mni.1	-	5	700	c.594G>A	c.(592-594)GTG>GTA	p.V198V	GNB2L1_uc003mnh.1_Silent_p.V157V|GNB2L1_uc003mnk.1_Silent_p.V120V|GNB2L1_uc003mnj.1_Silent_p.V152V|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Silent_p.V198V|GNB2L1_uc010jls.2_3'UTR	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	198	WD 5.				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|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)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GAGAGACAGTCACCGTGTTCA	0.532													T	180666109	C	T	180666109	2	4	264	1	0	0	0	0	0	0	0	1	6518	813	29	4		4	GNB2L1	5	180666109	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4392	180666109	249151	567	130085											
DUSP22	56940	broad.mit.edu	37	chr6	292507	292507	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtgcgcctgcgaccacaCggccggggcgctagcgttcg	15	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:292507C>T	uc003msx.2	+	1	407	c.-32C>T	c.(-34--30)CACGG>CATGG		DUSP22_uc011dhn.1_Translation_Start_Site	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						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			ovary(1)|kidney(1)|central_nervous_system(1)	3	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)		TGCGACCACACGGCCGGGGCG	0.672													T	292507	C	T	292507	1	4	264	1	0	0	0	0	0	0	0	0	4821	551	19	1		1	DUSP22	6	292507	Translation_Start_Site	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08		292507	170822560	568	130086											
BMP6	654	broad.mit.edu	37	chr6	7727782	7727782	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggcagcggcggcgcgtcCccactgaccagcgcgcagga	15	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:7727782C>A	uc003mxu.3	+	1	772	c.594C>A	c.(592-594)TCC>TCA	p.S198S		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	198					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					GCGGCGCGTCCCCACTGACCA	0.672													A	7727782	C	A	7727782	2	1	264	1	0	0	0	0	0	0	0	1	1464	610	22	5		5	BMP6	6	7727782	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7435275	7727782	163387285	569	130087											
SYCP2L	221711	broad.mit.edu	37	chr6	10935386	10935386	+	Frame_Shift_Del	DEL	T	T	-													aaattccaagatagttttgcTtttttgactgctgaagattc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:10935386delT	uc003mzo.2	+	21	2075	c.1779delT	c.(1777-1779)GCTfs	p.A593fs	SYCP2L_uc010jow.2_Frame_Shift_Del_p.A213fs	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	593						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATAGTTTTGCTTTTTTGACTG	0.348													-	10935386	T	-	10935386	7	5	264	1	0	1	0	1	0	0	0	0	15430	1596	56	0	1861	0	SYCP2L	6	10935386	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	3207604	10935386	160179681	570	130088											
GFOD1	54438	broad.mit.edu	37	chr6	13365634	13365634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccacggagtgcaggcCgccgccgcccatcaagtcgt	14	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:13365634C>T	uc003nat.1	-	2	1179	c.514G>A	c.(514-516)GGC>AGC	p.G172S	GFOD1_uc003nas.1_Missense_Mutation_p.G69S	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	172						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GAGTGCAGGCCGCCGCCGCCC	0.642													T	13365634	C	T	13365634	3	4	264	1	0	0	0	0	1	0	0	0	6343	652	23	1	662	1	GFOD1	6	13365634	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2430248	13365634	157749433	571	130089											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					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)				ACTAAGGAGGTGGGGGGGCGG	0.667													-	15496722	G	-	15496722	7	5	264	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	2131088	15496722	155618345	572	130090											
JARID2	3720	broad.mit.edu	37	chr6	15513220	15513220	+	Frame_Shift_Del	DEL	A	A	-													cagattgcacaagcagaagcAaaaaaagaaaacggtcccac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:15513219_15513219CA>C	uc003nbj.3	+	14	3453	c.3209_3209CA>C	c.(3208-3210)gcafs	p.A1070fs	JARID2_uc011div.2_Frame_Shift_Del_p.A898fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1070					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	p.E1069K(1)		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)				CAAGCAGAAGCAAAAAAAGAA	0.517													-	15513220	A	-	15513220	7	5	264	1	0	1	0	1	0	0	0	0	7945	117	5	0	3268	0	JARID2	6	15513220	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	16498	15513220	155601847	573	130091											
ATXN1	6310	broad.mit.edu	37	chr6	16327407	16327407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaccatcacagaggcccGgacccccgaaggatcacgac	11	16	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:16327407G>A	uc003nbt.2	-	8	2106	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	ATXN1_uc010jpi.2_Missense_Mutation_p.R379W|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	379					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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACAGAGGCCCGGACCCCCGAA	0.637													A	16327407	G	A	16327407	3	1	264	1	0	0	0	0	1	0	0	0	1209	1115	39	1	1320	1	ATXN1	6	16327407	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	814187	16327407	154787660	574	130092											
ATXN1	6310	broad.mit.edu	37	chr6	16327474	16327474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccacgtgcctggactcGtacgggtgaggaaccgactt	12	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:16327474G>A	uc003nbt.2	-	8	2039	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	ATXN1_uc010jpi.2_Silent_p.Y356Y|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	356					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			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCTGGACTCGTACGGGTGAG	0.662													A	16327474	G	A	16327474	2	1	264	1	0	0	0	0	0	0	0	1	1209	1140	40	1		1	ATXN1	6	16327474	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	67	16327474	154787593	575	130093											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123917	26123917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcctcgcccgcgatgcgCtcaaatatgtcgttaacgaa	10	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:26123917C>T	uc003ngk.3	-	1	238	c.216G>A	c.(214-216)GAG>GAA	p.E72E	HIST1H2BC_uc003ngl.2_Silent_p.E72E|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	72					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						CCGCGATGCGCTCAAATATGT	0.577													T	26123917	C	T	26123917	2	4	264	1	0	0	0	0	0	0	0	1	7142	796	28	2		2	HIST1H2BC	6	26123917	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	9796443	26123917	144991150	576	130094											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158762	26158762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggccgtcaccaagtAcaccagttccaagtaacttt	6	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:26158762A>G	uc003ngr.2	+	1	414	c.365A>G	c.(364-366)TAC>TGC	p.Y122C	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.Y122C	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	122					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						GTCACCAAGTACACCAGTTCC	0.527													G	26158762	A	G	26158762	3	3	264	1	0	0	0	0	1	0	0	0	7143	391	14	3	367	3	HIST1H2BD	6	26158762	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	34845	26158762	144956305	577	130095											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216833	26216835	+	In_Frame_Del	DEL	CTT	CTT	-													gtcacagccttcttggaaccCttcttcggagcaggagctga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:26216832_26216834CCTT>C	uc003ngz.2	-	0	39_41	c.38_40AAGG>G	c.(37-42)aagggt>aGgt	p.13_14KG>R	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	13					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)				TTCTTGGAACCCTTCTTCGGAGC	0.488													-	26216835	CTT	-	26216833	7	5	264	1	0	1	0	1	0	0	0	0	7146	680	24	0	345	0	HIST1H2BG	6	26216833	In_Frame_Del	DEL	CTT	TCGA-HU-A4G8-01A-11D-A25D-08	58071	26216833	144898234	578	130096											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27783081	27783081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgcattacaacaagcGctcgaccatcacttcgaggg	10	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:27783081G>A	uc003njo.2	+	1	260	c.260G>A	c.(259-261)CGC>CAC	p.R87H	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	87					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1						TACAACAAGCGCTCGACCATC	0.597													A	27783081	G	A	27783081	3	1	264	1	0	0	0	0	1	0	0	0	7152	1087	38	1	262	1	HIST1H2BM	6	27783081	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1566248	27783081	143331986	579	130097											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860683	27860683	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatggccagctgcaagtggCgcgggatgatgcgggtcttt	18	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:27860683C>G	uc003nkb.1	-	1	281	c.245G>C	c.(244-246)CGC>CCC	p.R82P	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	82					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						CTGCAAGTGGCGCGGGATGAT	0.607													G	27860683	C	G	27860683	3	3	264	1	0	0	0	0	1	0	0	0	7139	768	27	5	151	5	HIST1H2AM	6	27860683	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	77602	27860683	143254384	580	130098											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28327511	28327511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctcccgcgagcgcttcCgaggcttccgctacccggag	14	16	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:28327511C>T	uc003nle.3	+	2	364	c.148C>T	c.(148-150)CGA>TGA	p.R50*	ZKSCAN3_uc010jrc.2_Nonsense_Mutation_p.R50*|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	50	SCAN box.				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			skin(2)	2						CGAGCGCTTCCGAGGCTTCCG	0.627													T	28327511	C	T	28327511	4	4	264	1	0	0	0	0	0	1	0	0	17685	644	23	1	150	1	ZKSCAN3	6	28327511	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	466828	28327511	142787556	581	130099											
GABBR1	2550	broad.mit.edu	37	chr6	29599309	29599309	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcaggaagttgatagccttCacctggtcccgagtcaggcc	13	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:29599309C>G	uc003nmt.3	-	3	489	c.153G>C	c.(151-153)GTG>GTC	p.V51V	GABBR1_uc003nmu.3_Silent_p.V51V|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Silent_p.V51V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	51	Sushi 1.|Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TGATAGCCTTCACCTGGTCCC	0.627													G	29599309	C	G	29599309	2	3	264	1	0	0	0	0	0	0	0	1	6155	813	29	5		5	GABBR1	6	29599309	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1271798	29599309	141515758	582	130100											
HLA-A	3105	broad.mit.edu	37	chr6	29912156	29912156	+	Frame_Shift_Del	DEL	C	C	-													agcatgagggtctgcccaagCccctcaccctgagatggggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:29912155_29912155GC>G	uc003nol.3	+	3	960	c.876_876GC>G	c.(874-876)aagfs	p.K292fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Frame_Shift_Del_p.K292fs|HLA-A_uc010jrq.3_Frame_Shift_Del_p.K171fs|HLA-A_uc003nok.3_Frame_Shift_Del_p.K171fs|HLA-A_uc010klp.2_Frame_Shift_Del_p.K264fs|HLA-A_uc011dmc.2_Frame_Shift_Del_p.K171fs|HLA-A_uc011dmd.2_Frame_Shift_Del_p.K171fs|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	292	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	MHC class I protein complex|integral to plasma membrane	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						GTCTGCCCAAGCCCCTCACCC	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)			-	29912156	C	-	29912156	7	5	264	1	0	1	0	1	0	0	0	0	7195	739	26	0	891	0	HLA-A	6	29912156	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	312847	29912156	141202911	583	130101											
DHX16	8449	broad.mit.edu	37	chr6	30622578	30622581	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													ggagttgggatgaatgaagaCtgtctgctgctgtttcactg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:30622577_30622580ACTGT>A	uc003nqz.3	-	18	3112_3115	c.2900_2903ACAGT>T	c.(2899-2904)acagtcfs	p.T967fs	DHX16_uc003nqy.3_Frame_Shift_Del_p.T486fs|DHX16_uc011dmo.2_Frame_Shift_Del_p.T907fs	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	967					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						ATGAATGAAGACTGTCTGCTGCTG	0.529													-	30622581	CTGT	-	30622578	7	5	264	1	0	1	0	1	0	0	0	0	4502	565	20	0	231	0	DHX16	6	30622578	Frame_Shift_Del	DEL	CTGT	TCGA-HU-A4G8-01A-11D-A25D-08	710422	30622578	140492489	584	130102											
HSPA1L	3305	broad.mit.edu	37	chr6	31779712	31779712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagtaggtggtgcccAggtcgatgcctatggcgatt	15	9	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31779712A>G	uc003nxh.2	-	2	221	c.38T>C	c.(37-39)CTG>CCG	p.L13P	HSPA1L_uc010jte.2_Missense_Mutation_p.L13P	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	13					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						GGTGGTGCCCAGGTCGATGCC	0.552													G	31779712	A	G	31779712	3	3	264	1	0	0	0	0	1	0	0	0	7410	188	7	3	1891	3	HSPA1L	6	31779712	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1157134	31779712	139335355	585	130103											
SLC44A4	80736	broad.mit.edu	37	chr6	31833766	31833766	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcattggcccagggccagTacccagttaagggtccagaa	12	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31833766T>C	uc010jti.2	-	14	1437	c.1371A>G	c.(1369-1371)GTA>GTG	p.V457V		NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	457	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CCAGGGCCAGTACCCAGTTAA	0.562													C	31833766	T	C	31833766	2	2	264	1	0	0	0	0	0	0	0	1	14638	1625	57	3		3	SLC44A4	6	31833766	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	54054	31833766	139281301	586	130104											
EHMT2	10919	broad.mit.edu	37	chr6	31850545	31850545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccatcttggctgttcggTagagctgtagccgcaccctg	12	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31850545T>C	uc003nxz.1	-	25	3138	c.3128A>G	c.(3127-3129)TAC>TGC	p.Y1043C	EHMT2_uc003nxv.1_Missense_Mutation_p.Y82C|EHMT2_uc003nxw.1_Missense_Mutation_p.Y82C|EHMT2_uc003nxx.1_Missense_Mutation_p.Y241C|EHMT2_uc003nxy.1_Missense_Mutation_p.Y841C|EHMT2_uc011don.1_Missense_Mutation_p.Y1066C|EHMT2_uc003nya.1_Missense_Mutation_p.Y1009C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1043	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGCTGTTCGGTAGAGCTGTAG	0.642													C	31850545	T	C	31850545	3	2	264	1	0	0	0	0	1	0	0	0	4984	1638	57	3	520	3	EHMT2	6	31850545	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	16779	31850545	139264522	587	130105											
ZBTB12	221527	broad.mit.edu	37	chr6	31868388	31868388	+	Frame_Shift_Del	DEL	C	C	-													cggagcctccaatgcccagaCcccctcccaggcctccaggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31868387_31868387AC>A	uc003nyd.1	-	1	872	c.696_696GT>T	c.(694-696)ggtfs	p.G232fs	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Frame_Shift_Del_p.G232fs|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	232	Gly-rich.				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						CAATGCCCAGACCCCCTCCCA	0.662													-	31868388	C	-	31868388	7	5	264	1	0	1	0	1	0	0	0	0	17522	507	18	0	688	0	ZBTB12	6	31868388	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	17843	31868388	139246679	588	130106											
CYP21A2	1589	broad.mit.edu	37	chr6	32007960	32007960	+	Frame_Shift_Del	DEL	T	T	-													caccctctcctgggccgtggTttttttgcttcaccaccctg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:32007959_32007959GT>G	uc003nze.2	+	6	1023	c.916_916GT>G	c.(916-918)gttfs	p.V306fs	CYP21A2_uc003nzf.2_Frame_Shift_Del_p.V276fs	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	305					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CTGGGCCGTGGTTTTTTTGCT	0.622													-	32007960	T	-	32007960	7	5	264	1	0	1	0	1	0	0	0	0	4153	1725	60	0	2464	0	CYP21A2	6	32007960	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	139572	32007960	139107107	589	130107											
TNXB	7148	broad.mit.edu	37	chr6	32064801	32064801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgcgagggcagctcctcaTgccacagtcgtcaccagtgt	11	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:32064801T>C	uc003nzl.2	-	3	1031	c.829A>G	c.(829-831)ATG>GTG	p.M277V		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	277	EGF-like 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CAGCTCCTCATGCCACAGTCG	0.667													C	32064801	T	C	32064801	3	2	264	1	0	0	0	0	1	0	0	0	16343	1464	51	3	14052	3	TNXB	6	32064801	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	56841	32064801	139050266	590	130108											
COL11A2	1302	broad.mit.edu	37	chr6	33132047	33132047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcctgttcccacctgGcagccatctctgaattcttt	6	15	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33132047G>A	uc003ocx.1	-	65	5295	c.5067C>T	c.(5065-5067)TGC>TGT	p.C1689C	COL11A2_uc010jul.1_Silent_p.C259C|COL11A2_uc003ocy.1_Silent_p.C1603C|COL11A2_uc003ocz.1_Silent_p.C1582C	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1689	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TTCCCACCTGGCAGCCATCTC	0.627													A	33132047	G	A	33132047	2	1	264	1	0	0	0	0	0	0	0	1	3668	1195	42	2		2	COL11A2	6	33132047	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1067246	33132047	137983020	591	130109											
RGL2	5863	broad.mit.edu	37	chr6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C													gcggatgaggtcagcgctgcINScccccccaacacccttccct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	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						GGTCAGCGCTGCCCCCCCCAAC	0.653													C	33263966	-	C	33263965	7	5	264	1	0	1	1	0	0	0	0	0	13277	739	26	0	1777	0	RGL2	6	33263965	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	131918	33263965	137851102	592	130110											
ZBTB22	9278	broad.mit.edu	37	chr6	33283797	33283797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattaccacctcgcttcacGtatacccagtgtttctgtgg	7	13	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33283797G>A	uc003oeb.2	-	2	1049	c.897C>T	c.(895-897)TAC>TAT	p.Y299Y	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.Y299Y	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCGCTTCACGTATACCCAGT	0.597													A	33283797	G	A	33283797	2	1	264	1	0	0	0	0	0	0	0	1	17527	1140	40	1		1	ZBTB22	6	33283797	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	19832	33283797	137831270	593	130111											
PHF1	5252	broad.mit.edu	37	chr6	33381045	33381045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacatcctgggtatgccGccagtgtgtctttgcgatcg	14	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33381045G>A	uc003oeh.2	+	5	646	c.410G>A	c.(409-411)CGC>CAC	p.R137H	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R137H|PHF1_uc010jux.2_Intron	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	137	PHD-type 1.				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				TGGGTATGCCGCCAGTGTGTC	0.537													A	33381045	G	A	33381045	3	1	264	1	0	0	0	0	1	0	0	0	11820	1087	38	1	424	1	PHF1	6	33381045	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	97248	33381045	137734022	594	130112											
FANCE	2178	broad.mit.edu	37	chr6	35423794	35423794	+	Frame_Shift_Del	DEL	G	G	-													ctatgtagggggctgggcctGgggggcaggaggttgaaatc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:35423793_35423793TG>T	uc003oko.1	+	1	703	c.518_518TG>T	c.(517-519)ctgfs	p.L173fs	FANCE_uc010jvw.1_Frame_Shift_Del_p.L173fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	173	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GGGCTGGGCCTGGGGGGCAGG	0.592			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	35423794	G	-	35423794	7	5	264	1	0	1	0	1	0	0	0	0	5666	1335	47	0	525	0	FANCE	6	35423794	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	2042749	35423794	135691273	595	130113											
C6orf89	221477	broad.mit.edu	37	chr6	36882373	36882373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagattcagcattttttgtGccagtaccctgaggcgacag	11	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:36882373G>A	uc003omx.2	+	6	883	c.599G>A	c.(598-600)TGC>TAC	p.C200Y	C6orf89_uc003omv.2_Missense_Mutation_p.C94Y|C6orf89_uc003omw.2_Missense_Mutation_p.C207Y|C6orf89_uc011dtr.1_Missense_Mutation_p.C94Y|C6orf89_uc003omy.2_Missense_Mutation_p.C34Y	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	hypothetical protein LOC221477	200						integral to membrane				ovary(1)	1						CATTTTTTGTGCCAGTACCCT	0.488													A	36882373	G	A	36882373	3	1	264	1	0	0	0	0	1	0	0	0	2373	1319	46	2	638	2	C6orf89	6	36882373	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1458579	36882373	134232694	596	130114											
MDGA1	266727	broad.mit.edu	37	chr6	37626122	37626122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgcaatacgctcgatgCgcagcgtctcgttgaacacc	11	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:37626122C>T	uc003onu.1	-	3	1460	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	94	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						ACGCTCGATGCGCAGCGTCTC	0.657													T	37626122	C	T	37626122	3	4	264	1	0	0	0	0	1	0	0	0	9406	768	27	1	2646	1	MDGA1	6	37626122	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	743749	37626122	133488945	597	130115											
BTBD9	114781	broad.mit.edu	37	chr6	38142774	38142774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctttattggtgctgcCggttgggggagcgtgagttg	17	8	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:38142774C>T	uc003ooa.3	-	12	2402	c.1826G>A	c.(1825-1827)CGG>CAG	p.R609Q	BTBD9_uc003ony.3_Missense_Mutation_p.R541Q|BTBD9_uc010jwv.2_Missense_Mutation_p.R570Q|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.R609Q	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	609					cell adhesion						0						TTGGTGCTGCCGGTTGGGGGA	0.662													T	38142774	C	T	38142774	3	4	264	1	0	0	0	0	1	0	0	0	1548	652	23	1	16	1	BTBD9	6	38142774	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	516652	38142774	132972293	598	130116											
DNAH8	1769	broad.mit.edu	37	chr6	38941550	38941550	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttccgagtatggataacTacggagccccatgatcgatt	9	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:38941550T>G	uc003ooe.1	+	82	12588	c.11988T>G	c.(11986-11988)ACT>ACG	p.T3996T	DNAH8_uc003oog.1_Silent_p.T445T	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TATGGATAACTACGGAGCCCC	0.388													G	38941550	T	G	38941550	2	3	264	1	0	0	0	0	0	0	0	1	4607	1509	53	5		5	DNAH8	6	38941550	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	798776	38941550	132173517	599	130117											
LRFN2	57497	broad.mit.edu	37	chr6	40359880	40359880	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcaaagtcccccatgtcGaaggagtggctgcgtttggc	14	11	0	0	rs144850104	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:40359880G>A	uc003oph.1	-	3	2637	c.2172C>T	c.(2170-2172)TTC>TTT	p.F724F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	724	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCATGTCGAAGGAGTGGC	0.692													A	40359880	G	A	40359880	2	1	264	1	0	0	0	0	0	0	0	1	8938	1049	37	1		1	LRFN2	6	40359880	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1418330	40359880	130755187	600	130118											
TRERF1	55809	broad.mit.edu	37	chr6	42236161	42236161	+	Frame_Shift_Del	DEL	G	G	-													caggtggctctgctggtagaGggggtggctgtagggctgct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:42236160_42236160AG>A	uc003ose.2	-	4	1732	c.1169_1169CT>T	c.(1168-1170)ctcfs	p.L390fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.L390fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.L390fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	390	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|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator 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)			CTGCTGGTAGAGGGGGTGGCT	0.607													-	42236161	G	-	42236161	7	5	264	1	0	1	0	1	0	0	0	0	16472	1000	35	0	2490	0	TRERF1	6	42236161	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	1876281	42236161	128878906	601	130119											
CUL7	9820	broad.mit.edu	37	chr6	43013124	43013124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctctaacccccgaatgCgcgtatcaatgccaccctga	8	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:43013124C>T	uc003otq.2	-	15	3182	c.2879G>A	c.(2878-2880)CGC>CAC	p.R960H	CUL7_uc010jyg.2_Missense_Mutation_p.R239H|CUL7_uc011dvb.1_Missense_Mutation_p.R1044H|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	960	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			CCCCCGAATGCGCGTATCAAT	0.597													T	43013124	C	T	43013124	3	4	264	1	0	0	0	0	1	0	0	0	4060	768	27	1	2265	1	CUL7	6	43013124	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	776963	43013124	128101943	602	130120											
CUL9	23113	broad.mit.edu	37	chr6	43153240	43153240	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagccagcaagatggcatCgagcagcacatggattttga	12	9	0	3	rs146200421		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:43153240C>T	uc003ouk.2	+	3	717	c.642C>T	c.(640-642)ATC>ATT	p.I214I	CUL9_uc003ouj.1_Silent_p.I214I|CUL9_uc003oul.2_Silent_p.I214I|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	214					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						AAGATGGCATCGAGCAGCACA	0.493													T	43153240	C	T	43153240	2	4	264	1	0	0	0	0	0	0	0	1	4061	874	31	1		1	CUL9	6	43153240	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	140116	43153240	127961827	603	130121											
TTBK1	84630	broad.mit.edu	37	chr6	43252917	43252918	+	Frame_Shift_Del	DEL	AG	AG	-													ggagccagtccctgtcccgcAgagagagcccctccccctcg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:43252917_43252918delAG	uc003ouq.1	+	15	4048_4049	c.3769_3770delAG	c.(3769-3771)AGAfs	p.R1257fs		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1257	Pro-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTGTCCCGCAGAGAGAGCCCC	0.589													-	43252918	AG	-	43252917	7	5	264	1	0	1	0	1	0	0	0	0	16673	180	7	0	3823	0	TTBK1	6	43252917	Frame_Shift_Del	DEL	AG	TCGA-HU-A4G8-01A-11D-A25D-08	99677	43252917	127862150	604	130122											
CAPN11	11131	broad.mit.edu	37	chr6	44148736	44148736	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatcaacctcatggatgTatcctcctgtccagtgctct	7	13	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:44148736T>C	uc003owt.1	+	18	1907	c.1869_splice	c.e18+2	p.D623_splice	CAPN11_uc011dvn.1_Splice_Site_p.D277_splice	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11						proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	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)			CTCATGGATGTATCCTCCTGT	0.587													C	44148736	T	C	44148736	5	2	264	1	0	0	0	0	0	0	1	0	2624	1652	57	3	1941	3	CAPN11	6	44148736	Splice_Site	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	895819	44148736	126966331	605	130123											
RUNX2	860	broad.mit.edu	37	chr6	45390460	45390460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaGcagcaacagcagcagcagca	11	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:45390460G>A	uc011dvx.1	+	3	399	c.189G>A	c.(187-189)CAG>CAA	p.Q63Q	RUNX2_uc011dvy.1_Silent_p.Q63Q|RUNX2_uc003oxt.2_Silent_p.Q49Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	63	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			ovary(2)|skin(1)	3						agcagcagcagcagcaacagc	0.279													A	45390460	G	A	45390460	2	1	264	1	0	0	0	0	0	0	0	1	13748	962	34	2		2	RUNX2	6	45390460	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1241724	45390460	125724607	606	130124											
RCAN2	10231	broad.mit.edu	37	chr6	46216602	46216602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggaacgtcacacagtcaTcataagtccgaaacagtccc	8	13	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:46216602T>C	uc003oyb.1	-	2	434	c.119A>G	c.(118-120)GAT>GGT	p.D40G	RCAN2_uc003oyc.1_Missense_Mutation_p.D86G|RCAN2_uc003oyd.1_Missense_Mutation_p.D86G	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	40					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						CACACAGTCATCATAAGTCCG	0.413													C	46216602	T	C	46216602	3	2	264	1	0	0	0	0	1	0	0	0	13169	1435	50	3	486	3	RCAN2	6	46216602	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	826142	46216602	124898465	607	130125											
TDRD6	221400	broad.mit.edu	37	chr6	46656549	46656549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggtcccggttctctcGcgagtcccgctcaagcaaaa	11	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:46656549G>A	uc003oyj.2	+	1	684	c.684G>A	c.(682-684)TCG>TCA	p.S228S	TDRD6_uc010jze.2_Silent_p.S222S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	228					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CGGTTCTCTCGCGAGTCCCGC	0.647													A	46656549	G	A	46656549	2	1	264	1	0	0	0	0	0	0	0	1	15731	1074	38	1		1	TDRD6	6	46656549	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	439947	46656549	124458518	608	130126											
TDRD6	221400	broad.mit.edu	37	chr6	46659238	46659238	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattttagataagtcattgAaggctttagttgtagcaaaa	8	4	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:46659238A>C	uc003oyj.2	+	1	3373	c.3373A>C	c.(3373-3375)AAG>CAG	p.K1125Q	TDRD6_uc010jze.2_Missense_Mutation_p.K1119Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1125					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TAAGTCATTGAAGGCTTTAGT	0.368													C	46659238	A	C	46659238	3	2	264	1	0	0	0	0	1	0	0	0	15731	247	9	5	3375	5	TDRD6	6	46659238	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2689	46659238	124455829	609	130127											
MUT	4594	broad.mit.edu	37	chr6	49427151	49427151	+	Frame_Shift_Del	DEL	A	A	-													tcaggtaatgaggtgaaagtAaaaaaagctgattcttagct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:49427150_49427150TA>T	uc003ozg.4	-	1	295	c.30_30TA>A	c.(28-30)ttafs	p.L10fs		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	10					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)	GAGGTGAAAGTAAAAAAAGCT	0.413													-	49427151	A	-	49427151	7	5	264	1	0	1	0	1	0	0	0	0	9991	372	13	0	2271	0	MUT	6	49427151	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	2767913	49427151	121687916	610	130128											
TFAP2D	83741	broad.mit.edu	37	chr6	50683050	50683050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacccggccgtcaccccCgacgcctactctctgaactc	7	21	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:50683050C>T	uc003paf.2	+	2	773	c.261C>T	c.(259-261)CCC>CCT	p.P87P	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	87							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CCGTCACCCCCGACGCCTACT	0.587													T	50683050	C	T	50683050	2	4	264	1	0	0	0	0	0	0	0	1	15787	639	23	1		1	TFAP2D	6	50683050	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1255899	50683050	120432017	611	130129											
EFHC1	114327	broad.mit.edu	37	chr6	52344444	52344444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttctctccagtgtttgGtcaccggttcatcatccttg	7	13	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:52344444G>A	uc003pap.3	+	9	1714	c.1499G>A	c.(1498-1500)GGT>GAT	p.G500D	EFHC1_uc011dwv.1_Missense_Mutation_p.G409D|EFHC1_uc011dww.1_Missense_Mutation_p.G481D	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	500	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					CCAGTGTTTGGTCACCGGTTC	0.438													A	52344444	G	A	52344444	3	1	264	1	0	0	0	0	1	0	0	0	4946	1261	44	4	1543	4	EFHC1	6	52344444	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1661394	52344444	118770623	612	130130											
GSTA1	2938	broad.mit.edu	37	chr6	52657737	52657737	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagatgaatgtcagcccGgctcagcttgttgccaacaa	9	13	2	2	rs140052990	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:52657737G>T	uc003paz.2	-	6	575	c.463C>A	c.(463-465)CGG>AGG	p.R155R		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	155	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ATGTCAGCCCGGCTCAGCTTG	0.517													T	52657737	G	T	52657737	2	4	264	1	0	0	0	0	0	0	0	1	6830	1115	39	5		5	GSTA1	6	52657737	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	313293	52657737	118457330	613	130131											
FAM135A	57579	broad.mit.edu	37	chr6	71235966	71235966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgtgctgttagctacaGcaatgcacttagccctcaga	8	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:71235966G>A	uc003pfj.2	+	13	3312	c.3179G>A	c.(3178-3180)AGC>AAC	p.S1060N	FAM135A_uc003pfi.2_Missense_Mutation_p.S864N|FAM135A_uc003pfh.2_Missense_Mutation_p.S847N|FAM135A_uc003pfl.2_Missense_Mutation_p.S727N|FAM135A_uc003pfn.2_Missense_Mutation_p.S266N|FAM135A_uc003pfo.1_Missense_Mutation_p.S431N|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1060										central_nervous_system(1)	1						GTTAGCTACAGCAATGCACTT	0.398													A	71235966	G	A	71235966	3	1	264	1	0	0	0	0	1	0	0	0	5448	971	34	2	3307	2	FAM135A	6	71235966	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	18578229	71235966	99879101	614	130132											
RIMS1	22999	broad.mit.edu	37	chr6	72892717	72892717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcggccgtccccgcccAagccgcaccggtccaagaga	13	18	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:72892717A>G	uc003pga.2	+	6	1620	c.1543A>G	c.(1543-1545)AAG>GAG	p.K515E	RIMS1_uc011dyb.1_Missense_Mutation_p.K141E|RIMS1_uc003pgc.2_Missense_Mutation_p.K141E|RIMS1_uc003pgb.3_Missense_Mutation_p.K141E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	515					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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCCCCGCCCAAGCCGCACCG	0.657													G	72892717	A	G	72892717	3	3	264	1	0	0	0	0	1	0	0	0	13367	131	5	3	1565	3	RIMS1	6	72892717	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1656751	72892717	98222350	615	130133											
KCNQ5	56479	broad.mit.edu	37	chr6	73902287	73902287	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctctttctctgataGtgttgatcaaattcttggaa	7	8	5	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:73902287G>A	uc003pgk.2	+	13	2057	c.1710_splice	c.e13-1	p.R570_splice	KCNQ5_uc011dyh.1_Splice_Site_p.R589_splice|KCNQ5_uc011dyi.1_Splice_Site_p.R580_splice|KCNQ5_uc010kat.2_Splice_Site_p.R561_splice|KCNQ5_uc011dyj.1_Splice_Site_p.R460_splice|KCNQ5_uc011dyk.1_Splice_Site_p.R320_splice	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like						protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCTCTGATAGTGTTGATCAA	0.388													A	73902287	G	A	73902287	5	1	264	1	0	0	0	0	0	0	1	0	8086	1043	36	4	1820	4	KCNQ5	6	73902287	Splice_Site	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1009570	73902287	97212780	616	130134											
FILIP1	27145	broad.mit.edu	37	chr6	76022914	76022914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagtgatggaggggccGttttccctctttctcatcca	10	12	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:76022914G>A	uc003pia.2	-	5	3007	c.2634C>T	c.(2632-2634)AAC>AAT	p.N878N	FILIP1_uc003phy.1_Silent_p.N878N|FILIP1_uc003phz.2_Silent_p.N779N|FILIP1_uc010kbe.2_Silent_p.N881N|FILIP1_uc003pib.1_Silent_p.N630N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	878										skin(3)|ovary(1)	4						TGGAGGGGCCGTTTTCCCTCT	0.522													A	76022914	G	A	76022914	2	1	264	1	0	0	0	0	0	0	0	1	5894	1136	40	1		1	FILIP1	6	76022914	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2120627	76022914	95092153	617	130135											
IRAK1BP1	134728	broad.mit.edu	37	chr6	79607974	79607974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaacaaaaaatcaaaagtGcaacaatacatgctgcttca	4	9	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:79607974G>A	uc003pim.2	+	4	811	c.706G>A	c.(706-708)GCA>ACA	p.A236T	IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Missense_Mutation_p.A149T	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	236					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AATCAAAAGTGCAACAATACA	0.318													A	79607974	G	A	79607974	3	1	264	1	0	0	0	0	1	0	0	0	7822	1319	46	2	720	2	IRAK1BP1	6	79607974	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3585060	79607974	91507093	618	130136											
LCA5	167691	broad.mit.edu	37	chr6	80223190	80223190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgtgagatttcattttcGgcatcttcaaacttattcag	7	7	4	1	rs112915515		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:80223190G>A	uc003pix.2	-	3	894	c.459C>T	c.(457-459)GCC>GCT	p.A153A	LCA5_uc003piy.2_Silent_p.A153A|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.A153A	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	153	Potential.				protein transport	cilium axoneme|microtubule basal body	protein binding				0		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)		TTTCATTTTCGGCATCTTCAA	0.378													A	80223190	G	A	80223190	2	1	264	1	0	0	0	0	0	0	0	1	8656	1103	39	1		1	LCA5	6	80223190	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	615216	80223190	90891877	619	130137											
RARS2	57038	broad.mit.edu	37	chr6	88229955	88229955	+	Frame_Shift_Del	DEL	T	T	-													ggaatacttgctgaaaatgcTttttttgtcctttatctgtc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:88229954_88229954CT>C	uc003pme.3	-	12	1116	c.1056_1056AG>G	c.(1054-1056)aagfs	p.K352fs	RARS2_uc003pmc.3_Frame_Shift_Del_p.K177fs|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	352					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|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)		GCTGAAAATGCTTTTTTTGTC	0.328													-	88229955	T	-	88229955	7	5	264	1	0	1	0	1	0	0	0	0	13059	1609	56	0	713	0	RARS2	6	88229955	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	8006765	88229955	82885112	620	130138											
KIAA0776	23376	broad.mit.edu	37	chr6	96997630	96997630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcaacttcttagcttcGgatttaatgatggcagtaga	8	6	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:96997630G>A	uc003por.2	+	15	1821	c.1773G>A	c.(1771-1773)TCG>TCA	p.S591S	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	591					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		TCTTAGCTTCGGATTTAATGA	0.398													A	96997630	G	A	96997630	2	1	264	1	0	0	0	0	0	0	0	1	8193	1103	39	1		1	KIAA0776	6	96997630	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8767675	96997630	74117437	621	130139											
POU3F2	5454	broad.mit.edu	37	chr6	99284028	99284028	+	Frame_Shift_Del	DEL	G	G	-													cgggcgccgaggatgtgtacGgggggagtagggacactcca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:99284027_99284027CG>C	uc003ppe.3	+	0	1448	c.1278_1278CG>C	c.(1276-1278)tacfs	p.Y426fs		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	426					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)		AGGATGTGTACGGGGGGAGTA	0.637													-	99284028	G	-	99284028	7	5	264	1	0	1	0	1	0	0	0	0	12275	1116	39	0	1281	0	POU3F2	6	99284028	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	2286398	99284028	71831039	622	130140											
COQ3	51805	broad.mit.edu	37	chr6	99819461	99819461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgaataaagaaccaccGggctaaaagaaatgaaatta	8	5	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:99819461G>A	uc003ppk.2	-	6	759	c.732C>T	c.(730-732)CCC>CCT	p.P244P		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	244					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAGAACCACCGGGCTAAAAGA	0.338													A	99819461	G	A	99819461	2	1	264	1	0	0	0	0	0	0	0	1	3746	1103	39	1		1	COQ3	6	99819461	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	535433	99819461	71295606	623	130141											
SFRS18	25957	broad.mit.edu	37	chr6	99857155	99857155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggaggtgctggaggtccTggaggtcctggttgccaata	18	7	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:99857155T>C	uc003ppo.3	-	6	795	c.567A>G	c.(565-567)CCA>CCG	p.P189P	SFRS18_uc003ppp.3_Silent_p.P189P|SFRS18_uc011eag.1_Silent_p.P189P|SFRS18_uc003ppr.2_Silent_p.P189P	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	189	Pro-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CTGGAGGTCCTGGAGGTCCTG	0.498													C	99857155	T	C	99857155	2	2	264	1	0	0	0	0	0	0	0	1	14174	1567	55	3		3	SFRS18	6	99857155	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	37694	99857155	71257912	624	130142											
ARMC2	84071	broad.mit.edu	37	chr6	109215690	109215690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccaggggaagagacatgCgagggcctcatcatgcccca	14	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:109215690C>T	uc003pss.3	+	6	866	c.692C>T	c.(691-693)GCG>GTG	p.A231V	ARMC2_uc011eao.1_Missense_Mutation_p.A66V	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	231							binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAGAGACATGCGAGGGCCTCA	0.483													T	109215690	C	T	109215690	3	4	264	1	0	0	0	0	1	0	0	0	951	768	27	1	710	1	ARMC2	6	109215690	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	9358535	109215690	61899377	625	130143											
SLC22A16	85413	broad.mit.edu	37	chr6	110746117	110746117	+	Frame_Shift_Del	DEL	T	T	-													cctgggggtaatcgcttccgTtttttccagcccactattat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:110746116_110746116GT>G	uc003puf.3	-	7	1761	c.1694_1694AC>C	c.(1693-1695)acgfs	p.T565fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.T546fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	565					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)		AATCGCTTCCGTTTTTTCCAG	0.428													-	110746117	T	-	110746117	7	5	264	1	0	1	0	1	0	0	0	0	14447	1725	60	0	44	0	SLC22A16	6	110746117	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1530427	110746117	60368950	626	130144											
REV3L	5980	broad.mit.edu	37	chr6	111636522	111636522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcagttacagcttcgGcaatttcctgaccaatctta	8	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:111636522G>A	uc003puy.3	-	27	8737	c.8414C>T	c.(8413-8415)GCC>GTC	p.A2805V	REV3L_uc003pux.3_Missense_Mutation_p.A2727V|REV3L_uc003puz.3_Missense_Mutation_p.A2727V|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2805					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		TACAGCTTCGGCAATTTCCTG	0.338								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111636522	G	A	111636522	3	1	264	1	0	0	0	0	1	0	0	0	13240	1203	42	2	1002	2	REV3L	6	111636522	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	890405	111636522	59478545	627	130145											
SLC35F1	222553	broad.mit.edu	37	chr6	118228994	118228994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccggccgagggcagcggCggcggcgggagcctgtccgc	20	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:118228994C>T	uc003pxx.3	+	1	306	c.105C>T	c.(103-105)GGC>GGT	p.G35G		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	35					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		AGGGCAGCGGCGGCGGCGGGA	0.622													T	118228994	C	T	118228994	2	4	264	1	0	0	0	0	0	0	0	1	14588	755	27	1		1	SLC35F1	6	118228994	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6592472	118228994	52886073	628	130146											
FAM184A	79632	broad.mit.edu	37	chr6	119324113	119324113	+	Frame_Shift_Del	DEL	T	T	-													gccatgaatctcttgctgcaTttttctctcgatctttcaac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:119324112_119324112AT>A	uc003pyj.3	-	8	2388	c.2040_2040AT>T	c.(2038-2040)aatfs	p.N680fs	FAM184A_uc003pyk.4_Frame_Shift_Del_p.N560fs|FAM184A_uc003pyl.4_Frame_Shift_Del_p.N560fs	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	680										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTCTTGCTGCATTTTTCTCTC	0.373													-	119324113	T	-	119324113	7	5	264	1	0	1	0	1	0	0	0	0	5511	1493	52	0	1423	0	FAM184A	6	119324113	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1095119	119324113	51790954	629	130147											
RNF146	81847	broad.mit.edu	37	chr6	127607921	127607921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtctgccctgtaagcacGttttctgctatctatgtgta	8	10	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:127607921G>A	uc003qav.2	+	3	322	c.163G>A	c.(163-165)GTT>ATT	p.V55I	RNF146_uc003qat.2_Missense_Mutation_p.V54I|RNF146_uc003qau.2_Missense_Mutation_p.V54I|RNF146_uc003qaw.2_Missense_Mutation_p.V54I	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	55	RING-type.				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			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CTGTAAGCACGTTTTCTGCTA	0.458													A	127607921	G	A	127607921	3	1	264	1	0	0	0	0	1	0	0	0	13448	1145	40	1	162	1	RNF146	6	127607921	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8283808	127607921	43507146	630	130148											
LAMA2	3908	broad.mit.edu	37	chr6	129465215	129465215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaattgaccccattgTcaccagaagagtaagttatg	9	7	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:129465215T>A	uc003qbn.2	+	5	914	c.809T>A	c.(808-810)GTC>GAC	p.V270D	LAMA2_uc003qbo.2_Missense_Mutation_p.V270D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	270	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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCCCATTGTCACCAGAAGA	0.378													A	129465215	T	A	129465215	3	1	264	1	0	0	0	0	1	0	0	0	8606	1667	58	5	827	5	LAMA2	6	129465215	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1857294	129465215	41649852	631	130149											
LAMA2	3908	broad.mit.edu	37	chr6	129649528	129649528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtaatggacacagcagcCtgtgtgaccctgaaacatcg	10	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:129649528C>A	uc003qbn.2	+	29	4387	c.4282C>A	c.(4282-4284)CTG>ATG	p.L1428M	LAMA2_uc003qbo.2_Missense_Mutation_p.L1428M	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1428	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACAGCAGCCTGTGTGACCC	0.527													A	129649528	C	A	129649528	3	1	264	1	0	0	0	0	1	0	0	0	8606	680	24	5	4396	5	LAMA2	6	129649528	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	184313	129649528	41465539	632	130150											
ENPP1	5167	broad.mit.edu	37	chr6	132204888	132204888	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttgcttactacaaataTagtgccaatgtaccagagtt	7	8	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:132204888T>C	uc011ecf.1	+	22	2305	c.2285T>C	c.(2284-2286)ATA>ACA	p.I762T		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	762	Nuclease.|Extracellular (Potential).				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			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACTACAAATATAGTGCCAATG	0.269													C	132204888	T	C	132204888	3	2	264	1	0	0	0	0	1	0	0	0	5129	1406	49	3	2371	3	ENPP1	6	132204888	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2555360	132204888	38910179	633	130151											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239640	135239640	+	Frame_Shift_Del	DEL	C	C	-													cctattccagaactcttcatCcccccgaaaggaaggttcag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:135239639_135239639TC>T	uc003qew.3	-	6	1447	c.1378_1378GA>A	c.(1378-1380)atgfs	p.M460fs	ALDH8A1_uc011ecx.2_Frame_Shift_Del_p.M410fs|ALDH8A1_uc003qex.3_Frame_Shift_Del_p.M406fs|ALDH8A1_uc010kgh.3_Frame_Shift_Del_p.M238fs	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	460					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)		GAACTCTTCATCCCCCCGAAA	0.522													-	135239640	C	-	135239640	7	5	264	1	0	1	0	1	0	0	0	0	505	842	30	0	90	0	ALDH8A1	6	135239640	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	3034752	135239640	35875427	634	130152											
SLC35D3	340146	broad.mit.edu	37	chr6	137245364	137245364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagcttcgtgggtgtgGtgaagagcatcgccaccatc	12	13	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:137245364G>T	uc003qhe.2	+	2	946	c.781G>T	c.(781-783)GTG>TTG	p.V261L		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	261	Helical; (Potential).				carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CGTGGGTGTGGTGAAGAGCAT	0.612													T	137245364	G	T	137245364	3	4	264	1	0	0	0	0	1	0	0	0	14583	1261	44	5	787	5	SLC35D3	6	137245364	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2005724	137245364	33869703	635	130153											
TNFAIP3	7128	broad.mit.edu	37	chr6	138201245	138201245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagtcagtcccacagcGtccaggttccagaacaccat	10	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:138201245G>A	uc003qhr.2	+	8	2010	c.1944G>A	c.(1942-1944)GCG>GCA	p.A648A	TNFAIP3_uc003qhs.2_Silent_p.A648A	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	648	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?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GTCCCACAGCGTCCAGGTTCC	0.522			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								A	138201245	G	A	138201245	2	1	264	1	0	0	0	0	0	0	0	1	16271	1132	40	1		1	TNFAIP3	6	138201245	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	955881	138201245	32913822	636	130154											
HIVEP2	3097	broad.mit.edu	37	chr6	143092422	143092422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgtggctgggccaggtGcagtggccccgagctcagcg	17	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:143092422G>A	uc003qjd.2	-	5	4197	c.3454C>T	c.(3454-3456)CAC>TAC	p.H1152Y		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGGCCAGGTGCAGTGGCCCC	0.582													A	143092422	G	A	143092422	3	1	264	1	0	0	0	0	1	0	0	0	7187	1319	46	2	3910	2	HIVEP2	6	143092422	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4891177	143092422	28022645	637	130155											
HIVEP2	3097	broad.mit.edu	37	chr6	143093293	143093293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgagatggagagggtttCcccccactttctgcaccatc	10	13	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:143093293C>T	uc003qjd.2	-	5	3326	c.2583G>A	c.(2581-2583)GGG>GGA	p.G861G		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	861					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGAGGGTTTCCCCCCACTTT	0.557													T	143093293	C	T	143093293	2	4	264	1	0	0	0	0	0	0	0	1	7187	842	30	4		4	HIVEP2	6	143093293	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	871	143093293	28021774	638	130156											
PHACTR2	9749	broad.mit.edu	37	chr6	144086699	144086699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacacaggcaaattcaaGtccatggtccctccaccccc	6	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:144086699G>A	uc003qjq.3	+	6	1093	c.963G>A	c.(961-963)AAG>AAA	p.K321K	PHACTR2_uc010khh.2_Silent_p.K241K|PHACTR2_uc010khi.2_Silent_p.K332K|PHACTR2_uc003qjr.3_Silent_p.K252K	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	321							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCAAATTCAAGTCCATGGTCC	0.567													A	144086699	G	A	144086699	2	1	264	1	0	0	0	0	0	0	0	1	11810	1020	36	4		4	PHACTR2	6	144086699	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	993406	144086699	27028368	639	130157											
UTRN	7402	broad.mit.edu	37	chr6	144780421	144780421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttgtccagcggggcttcGatagctttctgggccgctac	12	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:144780421G>A	uc003qkt.2	+	20	2730	c.2638G>A	c.(2638-2640)GAT>AAT	p.D880N	UTRN_uc010khq.1_Missense_Mutation_p.D880N	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	880	Interaction with SYNM.|Spectrin 6.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCGGGGCTTCGATAGCTTTCT	0.488													A	144780421	G	A	144780421	3	1	264	1	0	0	0	0	1	0	0	0	17100	1058	37	1	2716	1	UTRN	6	144780421	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	693722	144780421	26334646	640	130158											
SHPRH	257218	broad.mit.edu	37	chr6	146256106	146256106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagcaggcctgtctgagcCtcagcaatggatacaggata	12	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:146256106C>A	uc003qlf.2	-	13	3326	c.2927G>T	c.(2926-2928)AGG>ATG	p.R976M	SHPRH_uc003qld.2_Missense_Mutation_p.R976M|SHPRH_uc003qle.2_Missense_Mutation_p.R976M|SHPRH_uc003qlg.1_Missense_Mutation_p.R532M|SHPRH_uc003qlj.1_Missense_Mutation_p.R865M|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	976					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTCTGAGCCTCAGCAATGG	0.463													A	146256106	C	A	146256106	3	1	264	1	0	0	0	0	1	0	0	0	14291	681	24	5	2240	5	SHPRH	6	146256106	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1475685	146256106	24858961	641	130159											
STXBP5	134957	broad.mit.edu	37	chr6	147680408	147680408	+	Frame_Shift_Del	DEL	C	C	-													ttgtcattgcactgaaccttCccccagggggagagcaaaga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:147680407_147680407TC>T	uc003qlz.3	+	22	2668	c.2493_2493TC>T	c.(2491-2493)cttfs	p.L831fs	STXBP5_uc010khz.2_Frame_Shift_Del_p.L795fs|STXBP5_uc003qly.3_Frame_Shift_Del_p.L486fs	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	831					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)		CACTGAACCTTCCCCCAGGGG	0.468													-	147680408	C	-	147680408	7	5	264	1	0	1	0	1	0	0	0	0	15355	855	30	0	2584	0	STXBP5	6	147680408	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1424302	147680408	23434659	642	130160											
IYD	389434	broad.mit.edu	37	chr6	150690214	150690214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccattctctgcattttggTtgtgtggatctttaaaaatg	9	6	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:150690214T>C	uc003qnu.1	+	1	187	c.47T>C	c.(46-48)GTT>GCT	p.V16A	IYD_uc003qnv.1_Missense_Mutation_p.V16A|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.V16A|IYD_uc010kik.1_5'UTR	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	16					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGCATTTTGGTTGTGTGGATC	0.493													C	150690214	T	C	150690214	3	2	264	1	0	0	0	0	1	0	0	0	7932	1725	60	3	49	3	IYD	6	150690214	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3009806	150690214	20424853	643	130161											
AKAP12	9590	broad.mit.edu	37	chr6	151672182	151672182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgtccaaggagctcagcGagagtcaggttcatatgatg	14	7	3	2	rs149275104		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:151672182G>A	uc011eep.1	+	4	2896	c.2656G>A	c.(2656-2658)GAG>AAG	p.E886K	AKAP12_uc003qoe.2_Missense_Mutation_p.E886K|AKAP12_uc003qof.2_Missense_Mutation_p.E788K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.E781K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	886					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGCTCAGCGAGAGTCAGGT	0.532													A	151672182	G	A	151672182	3	1	264	1	0	0	0	0	1	0	0	0	448	1059	37	1	2695	1	AKAP12	6	151672182	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	981968	151672182	19442885	644	130162											
ESR1	2099	broad.mit.edu	37	chr6	152201865	152201865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagagctgccaggcctGccggctccgtaaatgctacg	14	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:152201865G>A	uc003qom.3	+	5	1089	c.719G>A	c.(718-720)TGC>TAC	p.C240Y	ESR1_uc010kin.2_Missense_Mutation_p.C240Y|ESR1_uc010kio.2_Missense_Mutation_p.C242Y|ESR1_uc010kip.2_Missense_Mutation_p.C240Y|ESR1_uc003qon.3_Missense_Mutation_p.C240Y|ESR1_uc003qoo.3_Missense_Mutation_p.C240Y|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.C21Y|ESR1_uc011eex.1_Missense_Mutation_p.C21Y	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	240	NR C4-type.|Nuclear receptor.|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			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		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)	TGCCAGGCCTGCCGGCTCCGT	0.537													A	152201865	G	A	152201865	3	1	264	1	0	0	0	0	1	0	0	0	5256	1319	46	2	729	2	ESR1	6	152201865	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	529683	152201865	18913202	645	130163											
SYNE1	23345	broad.mit.edu	37	chr6	152826383	152826383	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagttctgtttcggcgataGtgaaagcatcctccaaattt	8	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:152826383G>C	uc010kiw.2	-	9	1333	c.731C>G	c.(730-732)ACT>AGT	p.T244S	SYNE1_uc003qot.3_Missense_Mutation_p.T251S|SYNE1_uc003qou.3_Missense_Mutation_p.T244S|SYNE1_uc010kjb.1_Missense_Mutation_p.T244S|SYNE1_uc003qpa.1_Missense_Mutation_p.T244S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	244	Actin-binding.|CH 2.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCGGCGATAGTGAAAGCATC	0.443										HNSCC(10;0.0054)			C	152826383	G	C	152826383	3	2	264	1	0	0	0	0	1	0	0	0	15442	1029	36	5	26287	5	SYNE1	6	152826383	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	624518	152826383	18288684	646	130164											
ARID1B	57492	broad.mit.edu	37	chr6	157517409	157517409	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctaacctgggcatggggCagcgccagcagtttccctat	12	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:157517409C>T	uc003qqn.2	+	16	4071	c.3919C>T	c.(3919-3921)CAG>TAG	p.Q1307*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1267*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1254*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1312					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGGCATGGGGCAGCGCCAGCA	0.498													T	157517409	C	T	157517409	4	4	264	1	0	0	0	0	0	1	0	0	914	711	25	2	4035	2	ARID1B	6	157517409	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4691026	157517409	13597658	647	130165											
TULP4	56995	broad.mit.edu	37	chr6	158914686	158914686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccacggttgcccctgcgCaagccctctgtgggctcgcc	11	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:158914686C>T	uc003qrf.2	+	10	3070	c.1713C>T	c.(1711-1713)CGC>CGT	p.R571R	TULP4_uc003qrg.2_Silent_p.R571R	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	571					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		TGCCCCTGCGCAAGCCCTCTG	0.647													T	158914686	C	T	158914686	2	4	264	1	0	0	0	0	0	0	0	1	16773	697	25	2		2	TULP4	6	158914686	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1397277	158914686	12200381	648	130166											
PLG	5340	broad.mit.edu	37	chr6	161132210	161132211	+	Frame_Shift_Ins	INS	-	-	C													aaaatggagttccacttctcINScccacagacctaggtaagac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:161132209_161132210T>TC	uc003qtm.4	+	3	505_506	c.393_394T>TC	c.(391-396)tctcccfs	p.S131fs	PLG_uc021zhr.1_Frame_Shift_Ins_p.S131fs	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	131	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)	GTTCCACTTCTCCCCACAGACC	0.46													C	161132211	-	C	161132210	7	5	264	1	0	1	1	0	0	0	0	0	12086	855	30	0	408	0	PLG	6	161132210	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	2217524	161132210	9982857	649	130167											
MAP3K4	4216	broad.mit.edu	37	chr6	161529828	161529828	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggaaactgcagacgaattGaaaatattcgaaggcatcaa	9	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:161529828G>T	uc003qtn.2	+	22	4315	c.4173G>T	c.(4171-4173)TTG>TTT	p.L1391F	MAP3K4_uc010kkc.1_Missense_Mutation_p.L1387F|MAP3K4_uc003qto.2_Missense_Mutation_p.L1341F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.L844F|MAP3K4_uc003qtp.2_Missense_Mutation_p.L327F|MAP3K4_uc003qtq.2_Missense_Mutation_p.L80F	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1391	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		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)		CAGACGAATTGAAAATATTCG	0.333													T	161529828	G	T	161529828	3	4	264	1	0	0	0	0	1	0	0	0	9252	1281	45	5	4259	5	MAP3K4	6	161529828	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	397618	161529828	9585239	650	130168											
PDE10A	10846	broad.mit.edu	37	chr6	165756927	165756927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgccgtcaattttgtaaCgggccacagttttgtcacag	9	9	2	0	rs117826255	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:165756927C>T	uc003qun.2	-	20	2261	c.2020G>A	c.(2020-2022)GTT>ATT	p.V674I	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V604I|PDE10A_uc003quo.2_Missense_Mutation_p.V684I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	674					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		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)	AATTTTGTAACGGGCCACAGT	0.388													T	165756927	C	T	165756927	3	4	264	1	0	0	0	0	1	0	0	0	11630	536	19	1	335	1	PDE10A	6	165756927	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4227099	165756927	5358140	651	130169											
RPS6KA2	6196	broad.mit.edu	37	chr6	166862227	166862227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttcacggcatactcGgtgtctgtggctttatgcac	9	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:166862227G>A	uc003qvb.1	-	14	1536	c.1317C>T	c.(1315-1317)ACC>ACT	p.T439T	RPS6KA2_uc011ego.1_Silent_p.T350T|RPS6KA2_uc010kkl.1_Silent_p.T350T|RPS6KA2_uc003qvc.1_Silent_p.T447T|RPS6KA2_uc003qvd.1_Silent_p.T464T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	439	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|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		CGGCATACTCGGTGTCTGTGG	0.582													A	166862227	G	A	166862227	2	1	264	1	0	0	0	0	0	0	0	1	13651	1103	39	1		1	RPS6KA2	6	166862227	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1105300	166862227	4252840	652	130170											
HEATR2	54919	broad.mit.edu	37	chr7	803553	803553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgaccgcgtcgcacctTgactggaccgcacactcgcc	12	17	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:803553T>C	uc010krz.1	+	8	1745	c.1725T>C	c.(1723-1725)CTT>CTC	p.L575L	HEATR2_uc003siz.2_Silent_p.L443L|HEATR2_uc003sja.2_Silent_p.L33L	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	575							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGTCGCACCTTGACTGGACCG	0.657													C	803553	T	C	803553	2	2	264	1	0	0	0	0	0	0	0	1	7028	1799	63	3		3	HEATR2	7	803553	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08		803553	158335110	653	130171											
ADAP1	11033	broad.mit.edu	37	chr7	943803	943803	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgttacgggtgctgTtgtccttcaggtaggtgacc	14	7	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:943803T>C	uc003sjo.3	-	6	784	c.608A>G	c.(607-609)AAC>AGC	p.N203S	ADAP1_uc003sjm.3_Missense_Mutation_p.N29S|ADAP1_uc011jvs.1_Missense_Mutation_p.N108S|ADAP1_uc003sjn.3_Missense_Mutation_p.N131S|ADAP1_uc010ksc.2_Missense_Mutation_p.N131S	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	203	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1						ACGGGTGCTGTTGTCCTTCAG	0.657													C	943803	T	C	943803	3	2	264	1	0	0	0	0	1	0	0	0	279	1725	60	3	540	3	ADAP1	7	943803	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	140250	943803	158194860	654	130172											
C7orf50	84310	broad.mit.edu	37	chr7	1037311	1037312	+	Frame_Shift_Del	DEL	GG	GG	-													gcgctgggccctccccggcaGggggggatcagagccctcct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:1037310_1037311AGG>A	uc003sju.2	-	4	605_606	c.535_536CCT>T	c.(535-537)ctgfs	p.L179fs	C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	179							protein binding	p.L179fs*>17(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTCCCCGGCAGGGGGGGATCA	0.723													-	1037312	GG	-	1037311	7	5	264	1	0	1	0	1	0	0	0	0	2399	991	35	0	53	0	C7orf50	7	1037311	Frame_Shift_Del	DEL	GG	TCGA-HU-A4G8-01A-11D-A25D-08	93508	1037311	158101352	655	130173											
NUDT1	4521	broad.mit.edu	37	chr7	2284269	2284269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcagcgagttctcctGggcatgaaaaagcgaggctt	12	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:2284269G>A	uc003slp.1	+	3	231	c.129G>A	c.(127-129)CTG>CTA	p.L43L	FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Silent_p.L20L|NUDT1_uc003slr.1_Silent_p.L20L|NUDT1_uc003sls.1_Silent_p.L43L|NUDT1_uc003slt.1_Silent_p.L20L|NUDT1_uc003slu.1_Silent_p.L43L|NUDT1_uc003slv.1_Silent_p.L20L	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	61	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGTTCTCCTGGGCATGAAAA	0.602								Direct_reversal_of_damage|Modulation_of_nucleotide_pools					A	2284269	G	A	2284269	2	1	264	1	0	0	0	0	0	0	0	1	10725	1335	47	4		4	NUDT1	7	2284269	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1246958	2284269	156854394	656	130174											
CHST12	55501	broad.mit.edu	37	chr7	2472759	2472759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgatcgtggacgaccGgcacggggccatctactgct	12	15	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:2472759G>A	uc003smc.2	+	2	620	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	CHST12_uc003smd.2_Missense_Mutation_p.R162Q	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	162	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GTGGACGACCGGCACGGGGCC	0.667													A	2472759	G	A	2472759	3	1	264	1	0	0	0	0	1	0	0	0	3400	1116	39	1	487	1	CHST12	7	2472759	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	188490	2472759	156665904	657	130175											
AMZ1	155185	broad.mit.edu	37	chr7	2752320	2752320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggacagagccgtggaCgccctcgaccgctgggagat	16	12	0	2	rs144828698		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:2752320C>T	uc003smr.1	+	7	1666	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.D184D	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	435							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GAGCCGTGGACGCCCTCGACC	0.687													T	2752320	C	T	2752320	2	4	264	1	0	0	0	0	0	0	0	1	596	535	19	1		1	AMZ1	7	2752320	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	279561	2752320	156386343	658	130176											
PAPOLB	56903	broad.mit.edu	37	chr7	4899601	4899601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagacatgttgaagaaacaActctggcgaccatggccttt	10	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:4899601A>G	uc003snk.2	-	1	2025	c.1841T>C	c.(1840-1842)GTT>GCT	p.V614A	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	613					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TGAAGAAACAACTCTGGCGAC	0.438													G	4899601	A	G	4899601	3	3	264	1	0	0	0	0	1	0	0	0	11430	43	2	3	76	3	PAPOLB	7	4899601	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2147281	4899601	154239062	659	130177											
FBXL18	80028	broad.mit.edu	37	chr7	5530899	5530899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggctcttgcaggtggCgagggactccccggtgaaca	15	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:5530899C>T	uc003soo.2	-	4	2057	c.1963G>A	c.(1963-1965)GCC>ACC	p.A655T	FBXL18_uc003son.3_Missense_Mutation_p.A655T	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	655										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGCAGGTGGCGAGGGACTCC	0.642													T	5530899	C	T	5530899	3	4	264	1	0	0	0	0	1	0	0	0	5714	768	27	1	201	1	FBXL18	7	5530899	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	631298	5530899	153607764	660	130178											
THSD7A	221981	broad.mit.edu	37	chr7	11676473	11676473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggttattgggtctctcGgcctgcttacagttagtatg	12	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:11676473G>A	uc003ssf.3	-	2	558	c.306C>T	c.(304-306)GCC>GCT	p.A102A		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	102	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTCTCTCGGCCTGCTTAC	0.512										HNSCC(18;0.044)			A	11676473	G	A	11676473	2	1	264	1	0	0	0	0	0	0	0	1	15876	1103	39	1		1	THSD7A	7	11676473	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6145574	11676473	147462190	661	130179											
DGKB	1607	broad.mit.edu	37	chr7	14378324	14378324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtttattaaatctatctgTactccatcacactgatcggt	5	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:14378324T>C	uc003ssz.2	-	22	2128	c.1941A>G	c.(1939-1941)GTA>GTG	p.V647V	DGKB_uc011jxt.1_Silent_p.V628V|DGKB_uc003sta.2_Silent_p.V647V|DGKB_uc011jxu.1_Silent_p.V646V	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	647					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			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	AATCTATCTGTACTCCATCAC	0.333													C	14378324	T	C	14378324	2	2	264	1	0	0	0	0	0	0	0	1	4466	1625	57	3		3	DGKB	7	14378324	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2701851	14378324	144760339	662	130180											
AHR	196	broad.mit.edu	37	chr7	17375352	17375352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtccagtctaatgcaCgcctgctttataaaaatgga	9	9	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:17375352C>T	uc011jxz.1	+	9	1715	c.1102C>T	c.(1102-1104)CGC>TGC	p.R368C	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	368	PAC.				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			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTCTAATGCACGCCTGCTTTA	0.348													T	17375352	C	T	17375352	3	4	264	1	0	0	0	0	1	0	0	0	416	536	19	1	1136	1	AHR	7	17375352	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2997028	17375352	141763311	663	130181											
FERD3L	222894	broad.mit.edu	37	chr7	19184667	19184667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttcctttcgcggatgtTggcggcctggcgctgggcgt	16	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:19184667T>C	uc003suo.1	-	1	378	c.319A>G	c.(319-321)AAC>GAC	p.N107D	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	107	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCGCGGATGTTGGCGGCCTGG	0.483													C	19184667	T	C	19184667	3	2	264	1	0	0	0	0	1	0	0	0	5816	1812	63	3	185	3	FERD3L	7	19184667	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1809315	19184667	139953996	664	130182											
ITGB8	3696	broad.mit.edu	37	chr7	20371450	20371451	+	Frame_Shift_Ins	INS	-	-	T													tgtgcggctcggccctggctINSttttttaccgctgcatttgt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:20371449_20371450C>CT	uc003suu.3	+	0	725_726	c.20_21C>CT	c.(19-21)gctfs	p.A7fs	ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	7					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						TCGGCCCTGGCTTTTTTTACCG	0.668													T	20371451	-	T	20371450	7	5	264	1	0	1	1	0	0	0	0	0	7901	1596	56	0	23	0	ITGB8	7	20371450	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1186783	20371450	138767213	665	130183											
HOXA2	3199	broad.mit.edu	37	chr7	27141905	27141905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggggctcggcttggggCggccgccagcgccgtggcga	20	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:27141905C>T	uc003syh.2	-	1	490	c.215G>A	c.(214-216)CGC>CAC	p.R72H		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	72						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CGGCTTGGGGCGGCCGCCAGC	0.507													T	27141905	C	T	27141905	3	4	264	1	0	0	0	0	1	0	0	0	7292	768	27	1	923	1	HOXA2	7	27141905	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6770455	27141905	131996758	666	130184											
SCRN1	9805	broad.mit.edu	37	chr7	29966126	29966126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtacagctcatgccggCggtctggtttctcctggaac	11	12	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:29966126C>T	uc010kvp.2	-	6	1232	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H	SCRN1_uc011jzy.1_Missense_Mutation_p.R275H|SCRN1_uc003tak.2_Missense_Mutation_p.R343H|SCRN1_uc011jzz.1_Missense_Mutation_p.R343H|SCRN1_uc011kaa.1_Missense_Mutation_p.R363H|SCRN1_uc011jzw.1_Missense_Mutation_p.R210H|SCRN1_uc011jzx.1_Missense_Mutation_p.R166H	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN	secernin 1 isoform c	343					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2						CTCATGCCGGCGGTCTGGTTT	0.572													T	29966126	C	T	29966126	3	4	264	1	0	0	0	0	1	0	0	0	13938	768	27	1	224	1	SCRN1	7	29966126	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2824221	29966126	129172537	667	130185											
BMPER	168667	broad.mit.edu	37	chr7	34118763	34118763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacacttccacatcgaccTggatggctacctcttgaaag	8	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:34118763T>C	uc011kap.1	+	12	1487	c.1373T>C	c.(1372-1374)CTG>CCG	p.L458P		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	458	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				ovary(2)|central_nervous_system(1)	3						CACATCGACCTGGATGGCTAC	0.652													C	34118763	T	C	34118763	3	2	264	1	0	0	0	0	1	0	0	0	1468	1580	55	3	1419	3	BMPER	7	34118763	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4152637	34118763	125019900	668	130186											
CDK13	8621	broad.mit.edu	37	chr7	40132557	40132557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcctgctggaattttgGcaacaggtgaaaaacagaca	9	9	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:40132557G>A	uc003thh.3	+	13	3691	c.3409G>A	c.(3409-3411)GCA>ACA	p.A1137T	CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Missense_Mutation_p.A188T|CDK13_uc003thk.2_Missense_Mutation_p.A70T	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1137					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			lung(2)|skin(2)|ovary(1)	5						TGGAATTTTGGCAACAGGTGA	0.413													A	40132557	G	A	40132557	3	1	264	1	0	0	0	0	1	0	0	0	3129	1203	42	2	3459	2	CDK13	7	40132557	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6013794	40132557	119006106	669	130187											
C7orf10	79783	broad.mit.edu	37	chr7	40899962	40899963	+	Frame_Shift_Ins	INS	-	-	C													gatgtcagaggccaggccgcINSccccgctgctcgggcagcac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:40899961_40899962G>GC	uc022acd.1	+	14	1323_1324	c.1299_1300G>GC	c.(1297-1302)ccgcccfs	p.P433fs	C7orf10_uc003thn.2_Frame_Shift_Ins_p.P407fs|C7orf10_uc003tho.2_Frame_Shift_Ins_p.P359fs|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	407							transferase activity	p.R432M(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													C	40899963	-	C	40899962	7	5	264	1	0	1	1	0	0	0	0	0	2376	739	26	0	1247	0	C7orf10	7	40899962	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	767405	40899962	118238701	670	130188											
HECW1	23072	broad.mit.edu	37	chr7	43508655	43508655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatgttcgcagacactcGgctggaactgccccggggct	12	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:43508655G>A	uc003tid.1	+	16	3655	c.3050G>A	c.(3049-3051)CGG>CAG	p.R1017Q	HECW1_uc011kbi.1_Missense_Mutation_p.R983Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1017					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCAGACACTCGGCTGGAACTG	0.552													A	43508655	G	A	43508655	3	1	264	1	0	0	0	0	1	0	0	0	7042	1116	39	1	3104	1	HECW1	7	43508655	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2608693	43508655	115630008	671	130189											
POLD2	5425	broad.mit.edu	37	chr7	44155855	44155855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactcgcctggcatcacgTccacgggcactgaggcctgg	12	15	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:44155855T>C	uc010kxz.2	-	9	1528	c.878A>G	c.(877-879)GAC>GGC	p.D293G	POLD2_uc003tke.3_Missense_Mutation_p.D293G|POLD2_uc010kya.2_Missense_Mutation_p.D293G|POLD2_uc003tkf.3_Missense_Mutation_p.D293G	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	293					base-excision repair|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	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						TGGCATCACGTCCACGGGCAC	0.672													C	44155855	T	C	44155855	3	2	264	1	0	0	0	0	1	0	0	0	12191	1667	58	3	547	3	POLD2	7	44155855	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	647200	44155855	114982808	672	130190											
OGDH	4967	broad.mit.edu	37	chr7	44706400	44706400	+	Frame_Shift_Del	DEL	G	G	-													tgcccaccaccactttcatcGggggacaggaatcagcactt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:44706400delG	uc003tln.2	+	5	692	c.583delG	c.(583-585)GGGfs	p.G195fs	OGDH_uc003tlm.2_Frame_Shift_Del_p.G195fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.G191fs|OGDH_uc011kby.1_Frame_Shift_Del_p.S96fs|OGDH_uc003tlp.2_Frame_Shift_Del_p.G206fs|OGDH_uc011kbz.1_Frame_Shift_Del_p.S41fs|OGDH_uc003tlo.1_Frame_Shift_Del_p.G28fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	195					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	CACTTTCATCGGGGGACAGGA	0.522													-	44706400	G	-	44706400	7	5	264	1	0	1	0	1	0	0	0	0	10839	1116	39	0	692	0	OGDH	7	44706400	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	550545	44706400	114432263	673	130191											
ZMIZ2	83637	broad.mit.edu	37	chr7	44804082	44804082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggaggtgtcctgtgtGcaagtgagtctcagatgcag	15	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:44804082G>A	uc003tlr.2	+	14	2048	c.1925G>A	c.(1924-1926)TGC>TAC	p.C642Y	ZMIZ2_uc003tlq.2_Missense_Mutation_p.C584Y|ZMIZ2_uc003tls.2_Missense_Mutation_p.C616Y|ZMIZ2_uc003tlt.2_Missense_Mutation_p.C265Y|ZMIZ2_uc010kyj.2_Missense_Mutation_p.C164Y|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	642	SP-RING-type.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TGTCCTGTGTGCAAGTGAGTC	0.517													A	44804082	G	A	44804082	3	1	264	1	0	0	0	0	1	0	0	0	17694	1319	46	2	1975	2	ZMIZ2	7	44804082	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	97682	44804082	114334581	674	130192											
C7orf42	55069	broad.mit.edu	37	chr7	66415976	66415976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgacacgtacagcaacGccacgctctggtacaagatc	8	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:66415976G>A	uc003tvk.2	+	5	898	c.634G>A	c.(634-636)GCC>ACC	p.A212T	C7orf42_uc010lah.2_Intron|C7orf42_uc003tvl.2_Missense_Mutation_p.A212T	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	212						integral to membrane				ovary(1)	1						GTACAGCAACGCCACGCTCTG	0.507													A	66415976	G	A	66415976	3	1	264	1	0	0	0	0	1	0	0	0	2392	1087	38	1	648	1	C7orf42	7	66415976	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	21611894	66415976	92722687	675	130193											
CLIP2	7461	broad.mit.edu	37	chr7	73753283	73753283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatccaacctctcagacagCggctctgtgaagcggggcga	14	12	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:73753283C>T	uc003uam.2	+	3	954	c.627C>T	c.(625-627)AGC>AGT	p.S209S	CLIP2_uc003uan.2_Silent_p.S209S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	209						microtubule associated complex				skin(3)	3						TCTCAGACAGCGGCTCTGTGA	0.682													T	73753283	C	T	73753283	2	4	264	1	0	0	0	0	0	0	0	1	3533	767	27	1		1	CLIP2	7	73753283	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7337307	73753283	85385380	676	130194											
SRRM3	222183	broad.mit.edu	37	chr7	75896577	75896577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggcgcctaaccccaggCtgagccccaagcaccgagac	10	18	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:75896577C>T	uc010ldi.2	+	11	1041	c.832C>T	c.(832-834)CTG>TTG	p.L278L	SRRM3_uc011kgi.1_5'UTR	NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						TAACCCCAGGCTGAGCCCCAA	0.692													T	75896577	C	T	75896577	2	4	264	1	0	0	0	0	0	0	0	1	15169	811	28	2		2	SRRM3	7	75896577	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2143294	75896577	83242086	677	130195											
PCLO	27445	broad.mit.edu	37	chr7	82579273	82579273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taattatttctaccttggcaTccactcgtgcccgtatggag	8	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:82579273T>C	uc003uhx.2	-	6	10920	c.10631A>G	c.(10630-10632)GAT>GGT	p.D3544G	PCLO_uc003uhv.2_Missense_Mutation_p.D3544G|PCLO_uc010lec.2_Missense_Mutation_p.D509G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3475					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TACCTTGGCATCCACTCGTGC	0.438													C	82579273	T	C	82579273	3	2	264	1	0	0	0	0	1	0	0	0	11583	1435	50	3	4894	3	PCLO	7	82579273	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	6682696	82579273	76559390	678	130196											
AKAP9	10142	broad.mit.edu	37	chr7	91632321	91632321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccatgacaagcaggggTgctgaaggatcagtttctaa	13	7	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:91632321T>C	uc003ulg.2	+	8	3315	c.3090T>C	c.(3088-3090)GGT>GGC	p.G1030G	AKAP9_uc003ule.2_Silent_p.G1042G|AKAP9_uc003ulf.2_Silent_p.G1030G|AKAP9_uc003uli.2_Silent_p.G655G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1042					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			CAAGCAGGGGTGCTGAAGGAT	0.343			T	BRAF	papillary thyroid								C	91632321	T	C	91632321	2	2	264	1	0	0	0	0	0	0	0	1	459	1683	59	3		3	AKAP9	7	91632321	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	9053048	91632321	67506342	679	130197											
AKAP9	10142	broad.mit.edu	37	chr7	91737940	91737940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagacgacttggaactatAcagtcaggtgctctgagttt	10	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:91737940A>G	uc003ulg.2	+	49	11904	c.11679A>G	c.(11677-11679)ATA>ATG	p.I3893M	AKAP9_uc003ulf.2_Missense_Mutation_p.I3885M|AKAP9_uc003uli.2_Missense_Mutation_p.I3516M|AKAP9_uc003ulj.2_Missense_Mutation_p.I1663M|AKAP9_uc003ull.2_Missense_Mutation_p.I789M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3897					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			TTGGAACTATACAGTCAGGTG	0.453			T	BRAF	papillary thyroid								G	91737940	A	G	91737940	3	3	264	1	0	0	0	0	1	0	0	0	459	381	14	3	11873	3	AKAP9	7	91737940	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	105619	91737940	67400723	680	130198											
SAMD9	54809	broad.mit.edu	37	chr7	92735258	92735259	+	Frame_Shift_Ins	INS	-	-	T													ccatatcaacaagatgttctINSttttttaaccacttcaagac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:92735257_92735258C>CT	uc003umf.3	-	2	423_424	c.153_154G>AG	c.(151-156)aaagaafs	p.K51fs	SAMD9_uc003umg.3_Frame_Shift_Ins_p.K51fs|SAMD9_uc022ahg.1_Frame_Shift_Ins_p.K51fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	51	SAM.					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)			ACAAGATGTTCTTTTTTTAACC	0.366													T	92735259	-	T	92735258	7	5	264	1	0	1	1	0	0	0	0	0	13826	1606	56	0	4620	0	SAMD9	7	92735258	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	997318	92735258	66403405	681	130199											
CASD1	64921	broad.mit.edu	37	chr7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-													ggttggcatgtatagctgcaTttttttgtggactcctcatc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:94185017delT	uc003uni.3	+	18	2568	c.2341delT	c.(2341-2343)TTTfs	p.F781fs	CASD1_uc003unj.3_Frame_Shift_Del_p.F781fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	781	Helical; (Potential).					integral to membrane				ovary(2)	2	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)			TATAGCTGCATTTTTTTGTGG	0.338													-	94185017	T	-	94185017	7	5	264	1	0	1	0	1	0	0	0	0	2664	1493	52	0	2411	0	CASD1	7	94185017	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1449759	94185017	64953646	682	130200											
TRRAP	8295	broad.mit.edu	37	chr7	98609825	98609825	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagccagcaactggtgtcCctggttcagaaagccgtcac	11	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:98609825C>A	uc003upp.2	+	72	11636	c.11427C>A	c.(11425-11427)TCC>TCA	p.S3809S	TRRAP_uc011kis.1_Silent_p.S3780S|TRRAP_uc003upr.2_Silent_p.S3515S|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3809	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			AACTGGTGTCCCTGGTTCAGA	0.597													A	98609825	C	A	98609825	2	1	264	1	0	0	0	0	0	0	0	1	16598	610	22	5		5	TRRAP	7	98609825	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4424808	98609825	60528838	683	130201											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758316	99758316	+	Frame_Shift_Del	DEL	G	G	-													tgtggggggttggggtctctGgggggatgaatattccctct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:99758315_99758315TG>T	uc003utt.3	-	2	1714	c.697_697CA>A	c.(697-699)agafs	p.R233fs	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Frame_Shift_Del_p.R171fs|GAL3ST4_uc003utu.3_Frame_Shift_Del_p.R233fs	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	233					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.R233fs*36(2)		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)					TTGGGGTCTCTGGGGGGATGA	0.587													-	99758316	G	-	99758316	7	5	264	1	0	1	0	1	0	0	0	0	6200	1335	47	0	768	0	GAL3ST4	7	99758316	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	1148491	99758316	59380347	684	130202											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017294	100017294	+	Frame_Shift_Del	DEL	T	T	-													cttgttgatttgtgcctttcTttttttctcctgttccctgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100017293_100017293CT>C	uc003uut.3	-	3	490	c.242_242AG>G	c.(241-243)agafs	p.R81fs	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Frame_Shift_Del_p.R80fs|ZCWPW1_uc003uuu.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kjt.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kju.1_Frame_Shift_Del_p.R80fs	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	81							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGTGCCTTTCTTTTTTTCTC	0.453													-	100017294	T	-	100017294	7	5	264	1	0	1	0	1	0	0	0	0	17594	1617	56	0	1765	0	ZCWPW1	7	100017294	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	258978	100017294	59121369	685	130203											
ZAN	7455	broad.mit.edu	37	chr7	100334562	100334562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatgttcgggctgtcttgGggcgcccagctcaggctgct	14	13	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100334562G>T	uc003uwj.2	+	5	549	c.384G>T	c.(382-384)TGG>TGT	p.W128C	ZAN_uc003uwk.2_Missense_Mutation_p.W128C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	128	MAM 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGCTGTCTTGGGGCGCCCAGC	0.662													T	100334562	G	T	100334562	3	4	264	1	0	0	0	0	1	0	0	0	17510	1241	43	5	398	5	ZAN	7	100334562	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	317268	100334562	58804101	686	130204											
MUC17	140453	broad.mit.edu	37	chr7	100676852	100676852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgacaccagcacacctGtgaccacttcaactgaagcc	7	15	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100676852G>A	uc003uxp.1	+	3	2208	c.2155G>A	c.(2155-2157)GTG>ATG	p.V719M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	719	Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACACCTGTGACCACTTC	0.493													A	100676852	G	A	100676852	3	1	264	1	0	0	0	0	1	0	0	0	9974	1377	48	4	2165	4	MUC17	7	100676852	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	342290	100676852	58461811	687	130205											
MUC17	140453	broad.mit.edu	37	chr7	100684616	100684616	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctttcaacaactcctgctGacaccagcacacctgtgacc	5	18	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100684616G>A	uc003uxp.1	+	3	9972	c.9919G>A	c.(9919-9921)GAC>AAC	p.D3307N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3307	Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGCTGACACCAGCAC	0.493													A	100684616	G	A	100684616	3	1	264	1	0	0	0	0	1	0	0	0	9974	1290	45	4	9929	4	MUC17	7	100684616	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7764	100684616	58454047	688	130206											
CUX1	1523	broad.mit.edu	37	chr7	101870751	101870751	+	Frame_Shift_Del	DEL	C	C	-													agctggtccagcagccctgtCcccccatcgaggcgagcaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:101870750_101870750TC>T	uc003uys.4	+	20	3394	c.3267_3267TC>T	c.(3265-3267)tgtfs	p.C1089fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Del_p.C1078fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1078					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						AGCAGCCCTGTCCCCCCATCG	0.662													-	101870751	C	-	101870751	7	5	264	1	0	1	0	1	0	0	0	0	4064	855	30	0	3384	0	CUX1	7	101870751	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1186135	101870751	57267912	689	130207											
RELN	5649	broad.mit.edu	37	chr7	103113350	103113350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatgtaattttgtttgCgagtgctgttaaaatcaaac	7	6	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:103113350C>T	uc003vca.2	-	66	10452	c.10292G>A	c.(10291-10293)CGC>CAC	p.R3431H	RELN_uc010liz.2_Missense_Mutation_p.R3429H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3431	Arg-rich (basic).				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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTTGTTTGCGAGTGCTGTT	0.398													T	103113350	C	T	103113350	3	4	264	1	0	0	0	0	1	0	0	0	13220	768	27	1	94	1	RELN	7	103113350	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1242599	103113350	56025313	690	130208											
LAMB4	22798	broad.mit.edu	37	chr7	107669592	107669592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgttagtcctgtagtgCttgtcttacgttggagaata	10	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:107669592C>T	uc010ljo.1	-	33	5126	c.5042G>A	c.(5041-5043)AGC>AAC	p.S1681N	LAMB4_uc003vey.2_Missense_Mutation_p.S1681N|LAMB4_uc010ljp.1_Missense_Mutation_p.S650N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1681	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TCCTGTAGTGCTTGTCTTACG	0.363													T	107669592	C	T	107669592	3	4	264	1	0	0	0	0	1	0	0	0	8613	797	28	2	251	2	LAMB4	7	107669592	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4556242	107669592	51469071	691	130209											
LAMB4	22798	broad.mit.edu	37	chr7	107671353	107671353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgcagcagggaaagTccatcctccagccctgatcg	11	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:107671353T>C	uc010ljo.1	-	32	4974	c.4890A>G	c.(4888-4890)GGA>GGG	p.G1630G	LAMB4_uc003vey.2_Silent_p.G1630G|LAMB4_uc010ljp.1_Silent_p.G599G	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1630	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCAGGGAAAGTCCATCCTCCA	0.493													C	107671353	T	C	107671353	2	2	264	1	0	0	0	0	0	0	0	1	8613	1654	58	3		3	LAMB4	7	107671353	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1761	107671353	51467310	692	130210											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|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 JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	264	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	13300526	120971879	38166784	693	130211											
WNT16	51384	broad.mit.edu	37	chr7	120979382	120979382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgaaagcatgactgatGtccacacttgcaagtaacca	10	9	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:120979382G>A	uc003vjw.2	+	4	1338	c.1081G>A	c.(1081-1083)GTC>ATC	p.V361I	WNT16_uc003vjv.2_Missense_Mutation_p.V351I|WNT16_uc010lkl.2_Missense_Mutation_p.V145I	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	361					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			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					CATGACTGATGTCCACACTTG	0.527													A	120979382	G	A	120979382	3	1	264	1	0	0	0	0	1	0	0	0	17382	1377	48	4	1164	4	WNT16	7	120979382	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7503	120979382	38159281	694	130212											
PTPRZ1	5803	broad.mit.edu	37	chr7	121674154	121674157	+	Frame_Shift_Del	DEL	GAAA	GAAA	-													tcattccctcattagacactGaaagagttttaccaggtaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:121674154_121674157delGAAA	uc003vjy.2	+	16	5567_5570	c.5172_5175delGAAA	c.(5170-5175)CTGAAAfs	p.L1724fs	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Frame_Shift_Del_p.L314fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1724_1725	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.			Missing (in Ref. 2).	central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATTAGACACTGAAAGAGTTTTACC	0.304													-	121674157	GAAA	-	121674154	7	5	264	1	0	1	0	1	0	0	0	0	12814	1277	45	0	5234	0	PTPRZ1	7	121674154	Frame_Shift_Del	DEL	GAAA	TCGA-HU-A4G8-01A-11D-A25D-08	694772	121674154	37464509	695	130213											
LMOD2	442721	broad.mit.edu	37	chr7	123302536	123302536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacaacacggtgctcaCggagctgcgtttccataacc	9	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:123302536C>T	uc003vky.2	+	2	1053	c.896C>T	c.(895-897)ACG>ATG	p.T299M		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	299						cytoskeleton	actin binding|tropomyosin binding				0						ACGGTGCTCACGGAGCTGCGT	0.542													T	123302536	C	T	123302536	3	4	264	1	0	0	0	0	1	0	0	0	8857	536	19	1	902	1	LMOD2	7	123302536	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1628382	123302536	35836127	696	130214											
ZNF800	168850	broad.mit.edu	37	chr7	127013759	127013759	+	Frame_Shift_Del	DEL	T	T	-													tcccaagataacgagatgacTttttatgaaccacagttata							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127013758_127013758CT>C	uc010lla.2	-	4	2344	c.1632_1632AG>G	c.(1630-1632)aagfs	p.K544fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K447fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K544fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K544fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	544					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						AACGAGATGACTTTTTATGAA	0.343													-	127013759	T	-	127013759	7	5	264	1	0	1	0	1	0	0	0	0	18166	1609	56	0	371	0	ZNF800	7	127013759	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	3711223	127013759	32124904	697	130215											
ARF5	381	broad.mit.edu	37	chr7	127229626	127229626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagattcggcctctgtggcGgcactacttccagaacactc	9	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127229626G>T	uc003vmb.1	+	3	272	c.236G>T	c.(235-237)CGG>CTG	p.R79L	ARF5_uc010llb.1_Missense_Mutation_p.R79L|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	79					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1						CCTCTGTGGCGGCACTACTTC	0.512													T	127229626	G	T	127229626	3	4	264	1	0	0	0	0	1	0	0	0	847	1116	39	5	246	5	ARF5	7	127229626	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	215867	127229626	31909037	698	130216											
SND1	27044	broad.mit.edu	37	chr7	127342555	127342555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccagattactacctggTtacagtcatgctgtcaggca	8	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127342555T>C	uc003vmi.2	+	6	882	c.656T>C	c.(655-657)GTT>GCT	p.V219A		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	219	TNase-like 2.				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			ovary(2)|central_nervous_system(1)	3						TACTACCTGGTTACAGTCATG	0.507													C	127342555	T	C	127342555	3	2	264	1	0	0	0	0	1	0	0	0	14844	1725	60	3	678	3	SND1	7	127342555	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	112929	127342555	31796108	699	130217											
LRRC4	64101	broad.mit.edu	37	chr7	127669623	127669623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgaggtctcgaggtgcGtccatgatgaagggggcaga	17	6	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127669623G>A	uc003vmk.2	-	2	1208	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	357	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		CTCGAGGTGCGTCCATGATGA	0.602													A	127669623	G	A	127669623	2	1	264	1	0	0	0	0	0	0	0	1	8997	1136	40	1		1	LRRC4	7	127669623	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	327068	127669623	31469040	700	130218											
TNPO3	23534	broad.mit.edu	37	chr7	128630077	128630077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccaattcaatgctggtgTatcgcacagccgtatgtacg	9	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:128630077T>C	uc003vol.1	-	11	1810	c.1436A>G	c.(1435-1437)TAC>TGC	p.Y479C	TNPO3_uc003vom.1_Missense_Mutation_p.Y413C|TNPO3_uc010lly.1_Missense_Mutation_p.Y513C|TNPO3_uc010llz.1_Missense_Mutation_p.Y479C	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	479					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						AATGCTGGTGTATCGCACAGC	0.483													C	128630077	T	C	128630077	3	2	264	1	0	0	0	0	1	0	0	0	16334	1638	57	3	1383	3	TNPO3	7	128630077	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	960454	128630077	30508586	701	130219											
NRF1	4899	broad.mit.edu	37	chr7	129350308	129350308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttgaagatcagcaaaCgcaaacacaggccacagcca	8	13	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:129350308C>T	uc003voz.2	+	7	977	c.860C>T	c.(859-861)ACG>ATG	p.T287M	NRF1_uc003vpa.2_Missense_Mutation_p.T287M|NRF1_uc011kpa.1_Missense_Mutation_p.T126M|NRF1_uc003vpb.2_Missense_Mutation_p.T287M	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	287					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GATCAGCAAACGCAAACACAG	0.453													T	129350308	C	T	129350308	3	4	264	1	0	0	0	0	1	0	0	0	10646	536	19	1	882	1	NRF1	7	129350308	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	720231	129350308	29788355	702	130220											
KLF14	136259	broad.mit.edu	37	chr7	130418141	130418141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagtggcgggccagctcGtcggaacgcgtaaacttctt	13	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:130418141G>A	uc003vqk.1	-	1	720	c.720C>T	c.(718-720)GAC>GAT	p.D240D		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	240	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(18;0.0435)					GGGCCAGCTCGTCGGAACGCG	0.642													A	130418141	G	A	130418141	2	1	264	1	0	0	0	0	0	0	0	1	8342	1136	40	1		1	KLF14	7	130418141	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1067833	130418141	28720522	703	130221											
PLXNA4	91584	broad.mit.edu	37	chr7	131817885	131817885	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactcattcatgtgcatccGggactgctcagccaggtatg	11	11	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:131817885G>T	uc003vra.3	-	31	5741	c.5512C>A	c.(5512-5514)CGG>AGG	p.R1838R	PLXNA4_uc003vqz.3_Silent_p.R123R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1838	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ATGTGCATCCGGGACTGCTCA	0.517													T	131817885	G	T	131817885	2	4	264	1	0	0	0	0	0	0	0	1	12122	1115	39	5		5	PLXNA4	7	131817885	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1399744	131817885	27320778	704	130222											
PLXNA4	91584	broad.mit.edu	37	chr7	131859624	131859624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccaggaacggaatcccGgctccatccaggtcactggt	11	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:131859624G>A	uc003vra.3	-	21	4159	c.3930C>T	c.(3928-3930)GCC>GCT	p.A1310A		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1310	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ACGGAATCCCGGCTCCATCCA	0.582													A	131859624	G	A	131859624	2	1	264	1	0	0	0	0	0	0	0	1	12122	1103	39	1		1	PLXNA4	7	131859624	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	41739	131859624	27279039	705	130223											
CNOT4	4850	broad.mit.edu	37	chr7	135079025	135079025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaggttggtcttgaacGgacagttccttctcaatcag	12	8	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:135079025G>A	uc003vsv.1	-	10	1579	c.1272C>T	c.(1270-1272)TCC>TCT	p.S424S	CNOT4_uc003vss.2_Silent_p.S421S|CNOT4_uc011kpz.1_Silent_p.S421S|CNOT4_uc003vst.2_Silent_p.S424S|CNOT4_uc003vsu.1_Silent_p.S421S|CNOT4_uc011kpy.1_Silent_p.S424S	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	424					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				0						GGTCTTGAACGGACAGTTCCT	0.493													A	135079025	G	A	135079025	2	1	264	1	0	0	0	0	0	0	0	1	3621	1103	39	1		1	CNOT4	7	135079025	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3219401	135079025	24059638	706	130224											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764823	138764823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgagatcgtccacaggCgcgtcctccagggaagccct	14	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:138764823C>T	uc003vun.2	-	4	1252	c.864G>A	c.(862-864)GCG>GCA	p.A288A	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.A288A	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	288	Nuclear export signal (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						CGTCCACAGGCGCGTCCTCCA	0.587													T	138764823	C	T	138764823	2	4	264	1	0	0	0	0	0	0	0	1	17572	755	27	1		1	ZC3HAV1	7	138764823	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3685798	138764823	20373840	707	130225											
LUC7L2	51631	broad.mit.edu	37	chr7	139107037	139107037	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctatgagagtgctaatggcaGatcagaagacaggaggagct	14	6	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:139107037G>A	uc003vux.2	+	10	1504	c.1130G>A	c.(1129-1131)AGA>AAA	p.R377K	LUC7L2_uc011kqs.1_Missense_Mutation_p.R374K|LUC7L2_uc011kqt.1_Missense_Mutation_p.R443K|LUC7L2_uc003vuy.2_Missense_Mutation_p.R376K|LUC7L2_uc003vva.2_Missense_Mutation_p.R324K	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	377	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					GCTAATGGCAGATCAGAAGAC	0.478													A	139107037	G	A	139107037	3	1	264	1	0	0	0	0	1	0	0	0	9083	942	33	4	1168	4	LUC7L2	7	139107037	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	342214	139107037	20031626	708	130226											
KLRG2	346689	broad.mit.edu	37	chr7	139168278	139168278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaccttcaggttgtcgcacCttcgcgggcacctgcggctg	14	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:139168278C>A	uc003vvb.2	-	1	180	c.111G>T	c.(109-111)AAG>AAT	p.K37N	KLRG2_uc010lnc.2_Missense_Mutation_p.K37N	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	37	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GTTGTCGCACCTTCGCGGGCA	0.711													A	139168278	C	A	139168278	3	1	264	1	0	0	0	0	1	0	0	0	8422	680	24	5	1138	5	KLRG2	7	139168278	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	61241	139168278	19970385	709	130227											
PRSS37	136242	broad.mit.edu	37	chr7	141539138	141539138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgcccaaatactcaacGgtaaatagcagtgagctggg	13	8	1	1	rs139899492		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:141539138G>A	uc003vws.1	-	2	548	c.176C>T	c.(175-177)CCA>CTA	p.P59L	PRSS37_uc011krk.1_Missense_Mutation_p.P46L|PRSS37_uc011krl.1_Missense_Mutation_p.P59L|PRSS37_uc003vwt.1_5'UTR	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	protease, serine, 37 precursor	59	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			skin(1)	1						AATACTCAACGGTAAATAGCA	0.398													A	141539138	G	A	141539138	3	1	264	1	0	0	0	0	1	0	0	0	12626	1130	39	1	547	1	PRSS37	7	141539138	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2370860	141539138	17599525	710	130228											
MGAM	8972	broad.mit.edu	37	chr7	141750608	141750608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagcaatgttacagtgaaaCacaatggtgtcccaagtcag	9	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:141750608C>T	uc003vwy.2	+	24	2803	c.2749C>T	c.(2749-2751)CAC>TAC	p.H917Y		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	917	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACAGTGAAACACAATGGTGT	0.378													T	141750608	C	T	141750608	3	4	264	1	0	0	0	0	1	0	0	0	9541	478	17	4	2839	4	MGAM	7	141750608	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	211470	141750608	17388055	711	130229											
FAM131B	9715	broad.mit.edu	37	chr7	143054474	143054474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatccatggaagaccagGccatgagtgtggcctcagag	12	12	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:143054474G>A	uc003wct.2	-	5	2131	c.425C>T	c.(424-426)GCC>GTC	p.A142V	FAM131B_uc010loz.2_Missense_Mutation_p.A110V|FAM131B_uc003wcu.3_Missense_Mutation_p.A142V|FAM131B_uc010lpa.2_Missense_Mutation_p.A170V	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	142											0	Melanoma(164;0.205)					GGAAGACCAGGCCATGAGTGT	0.517													A	143054474	G	A	143054474	3	1	264	1	0	0	0	0	1	0	0	0	5440	1203	42	2	581	2	FAM131B	7	143054474	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1303866	143054474	16084189	712	130230											
OR2A12	346525	broad.mit.edu	37	chr7	143792462	143792462	+	Frame_Shift_Del	DEL	A	A	-													tagcaaatcttgtgatgcacAaaaaagtcatctcctttgct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:143792462delA	uc011kty.1	+	1	262	c.262delA	c.(262-264)AAAfs	p.K88fs		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					TGTGATGCACAAAAAAGTCAT	0.438													-	143792462	A	-	143792462	7	5	264	1	0	1	0	1	0	0	0	0	10975	131	5	0	264	0	OR2A12	7	143792462	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	737988	143792462	15346201	713	130231											
ZNF777	27153	broad.mit.edu	37	chr7	149129440	149129440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggctgaagctgctgtcGcactcggggcacttgtaggg	16	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:149129440G>A	uc003wfv.2	-	6	2086	c.1923C>T	c.(1921-1923)TGC>TGT	p.C641C		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	641	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGCTGTCGCACTCGGGGC	0.652													A	149129440	G	A	149129440	2	1	264	1	0	0	0	0	0	0	0	1	18147	1079	38	1		1	ZNF777	7	149129440	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5336978	149129440	10009223	714	130232											
SSPO	23145	broad.mit.edu	37	chr7	149490507	149490507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtctgcacaacctcAccgcacactgctcaccctac	6	19	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:149490507A>G	uc010lpk.2	+	40	5983	c.5983A>G	c.(5983-5985)ACC>GCC	p.T1995A		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1995	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCACAACCTCACCGCACACTG	0.687													G	149490507	A	G	149490507	3	3	264	1	0	0	0	0	1	0	0	0	15188	159	6	3	6133	3	SSPO	7	149490507	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	361067	149490507	9648156	715	130233											
KCNH2	3757	broad.mit.edu	37	chr7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-													cctggggccagccagctggtGggggggccccggtggttggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:150656678_150656678TG>T	uc003wic.3	-	2	855	c.454_454CA>A	c.(454-456)accfs	p.T152fs	KCNH2_uc011kux.2_Frame_Shift_Del_p.T56fs|KCNH2_uc003wie.3_Frame_Shift_Del_p.T152fs	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	152					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	p.T152fs*180(2)		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)	AGCCAGCTGGTGGGGGGGCCC	0.592													-	150656679	G	-	150656679	7	5	264	1	0	1	0	1	0	0	0	0	8032	1335	47	0	3459	0	KCNH2	7	150656679	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	1166172	150656679	8481984	716	130234											
NOM1	64434	broad.mit.edu	37	chr7	156762298	156762298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacttcttgctaaagaaCgcacaggcccacagaagcgc	9	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:156762298C>T	uc003wmy.2	+	11	2499	c.2484C>T	c.(2482-2484)AAC>AAT	p.N828N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	828					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTAAAGAACGCACAGGCCC	0.488													T	156762298	C	T	156762298	2	4	264	1	0	0	0	0	0	0	0	1	10530	535	19	1		1	NOM1	7	156762298	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6105619	156762298	2376365	717	130235											
DLGAP2	9228	broad.mit.edu	37	chr8	1497106	1497106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagcagcaccttcccgCggatgcactacagctcgcac	9	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:1497106C>T	uc003wpl.2	+	2	344	c.247C>T	c.(247-249)CGG>TGG	p.R83W	DLGAP2_uc003wpm.2_Missense_Mutation_p.R83W	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	162					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		CACCTTCCCGCGGATGCACTA	0.697													T	1497106	C	T	1497106	3	4	264	1	0	0	0	0	1	0	0	0	4560	759	27	1	249	1	DLGAP2	8	1497106	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08		1497106	144866916	718	130236											
CSMD1	64478	broad.mit.edu	37	chr8	2832016	2832016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtgactgtcttcctgGcacactctcgtgtcgttgcc	9	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:2832016G>A	uc011kwk.1	-	56	9090	c.8700C>T	c.(8698-8700)TGC>TGT	p.C2900C	CSMD1_uc011kwj.1_Silent_p.C2229C|CSMD1_uc010lrg.2_Silent_p.C910C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2900	Sushi 21.|Extracellular (Potential).					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)		TGTCTTCCTGGCACACTCTCG	0.542													A	2832016	G	A	2832016	2	1	264	1	0	0	0	0	0	0	0	1	3944	1195	42	2		2	CSMD1	8	2832016	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1334910	2832016	143532006	719	130237											
CSMD1	64478	broad.mit.edu	37	chr8	3253799	3253799	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttcccggtgctgatgAggaactggggtgcctgggtg	18	7	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:3253799A>T	uc011kwk.1	-	17	2903	c.2513T>A	c.(2512-2514)CTC>CAC	p.L838H	CSMD1_uc011kwj.1_Missense_Mutation_p.L230H|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	838	Extracellular (Potential).|CUB 5.					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)		GGTGCTGATGAGGAACTGGGG	0.572													T	3253799	A	T	3253799	3	4	264	1	0	0	0	0	1	0	0	0	3944	304	11	5	8400	5	CSMD1	8	3253799	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	421783	3253799	143110223	720	130238											
MCPH1	79648	broad.mit.edu	37	chr8	6357399	6357399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctttagaattgggtcaCtggatttctgaggagccgtt	13	6	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:6357399C>T	uc003wqi.2	+	12	2231	c.2163C>T	c.(2161-2163)CAC>CAT	p.H721H	ANGPT2_uc003wqj.3_3'UTR|ANGPT2_uc003wqk.3_3'UTR|ANGPT2_uc010lri.2_3'UTR	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	721	BRCT 2.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AATTGGGTCACTGGATTTCTG	0.423													T	6357399	C	T	6357399	2	4	264	1	0	0	0	0	0	0	0	1	9398	564	20	4		4	MCPH1	8	6357399	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3103600	6357399	140006623	721	130239											
MFHAS1	9258	broad.mit.edu	37	chr8	8747799	8747799	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctgtaactcacaaccacagGaactttccctctataggcaa	5	13	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:8747799G>C	uc003wsj.1	-	1	3333	c.2770C>G	c.(2770-2772)CCT>GCT	p.P924A		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	924											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACAACCACAGGAACTTTCCCT	0.502													C	8747799	G	C	8747799	3	2	264	1	0	0	0	0	1	0	0	0	9521	1174	41	5	400	5	MFHAS1	8	8747799	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2390400	8747799	137616223	722	130240											
SOX7	83595	broad.mit.edu	37	chr8	10584134	10584134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccgcctcgtccacgTacggcctcttctgggacagc	11	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:10584134T>C	uc003wtf.2	-	2	360	c.281A>G	c.(280-282)TAC>TGC	p.Y94C	SOX7_uc011kwz.1_Missense_Mutation_p.Y146C|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	94	HMG box.				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)	1				COAD - Colon adenocarcinoma(149;0.0732)		CTCGTCCACGTACGGCCTCTT	0.622													C	10584134	T	C	10584134	3	2	264	1	0	0	0	0	1	0	0	0	14956	1638	57	3	889	3	SOX7	8	10584134	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1836335	10584134	135779888	723	130241											
DLC1	10395	broad.mit.edu	37	chr8	12957359	12957359	+	Frame_Shift_Del	DEL	G	G	-													acagagccgttattccccgaGggggagaaactgccattggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:12957358_12957358AG>A	uc003wwm.2	-	8	2932	c.2488_2488CT>T	c.(2488-2490)tcgfs	p.S830fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.S393fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.S427fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.S319fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	830					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|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						TTATTCCCCGAGGGGGAGAAA	0.577													-	12957359	G	-	12957359	7	5	264	1	0	1	0	1	0	0	0	0	4550	987	35	0	2139	0	DLC1	8	12957359	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	2373225	12957359	133406663	724	130242											
MSR1	4481	broad.mit.edu	37	chr8	15967675	15967675	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaattttacattcttcaatAgatgattctctcccaaaaca	3	10	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:15967675A>G	uc003wwz.2	-	10	1473	c.1275T>C	c.(1273-1275)TCT>TCC	p.S425S	MSR1_uc010lsu.2_Silent_p.S443S|MSR1_uc003wxa.2_Silent_p.S362S	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	425	SRCR.|Extracellular (Potential).				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			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTCTTCAATAGATGATTCTC	0.368													G	15967675	A	G	15967675	2	3	264	1	0	0	0	0	0	0	0	1	9886	407	15	3		3	MSR1	8	15967675	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3010316	15967675	130396347	725	130243											
KIAA1967	57805	broad.mit.edu	37	chr8	22474994	22474994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggaagaagaaaaaccccGgggcgaggcttctgaggacc	15	9	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:22474994G>T	uc003xch.2	+	15	2044	c.1907G>T	c.(1906-1908)CGG>CTG	p.R636L	KIAA1967_uc003xci.2_Missense_Mutation_p.R636L|KIAA1967_uc003xcj.1_Missense_Mutation_p.R305L	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	636					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAAAAACCCCGGGGCGAGGCT	0.532													T	22474994	G	T	22474994	3	4	264	1	0	0	0	0	1	0	0	0	8265	1116	39	5	1961	5	KIAA1967	8	22474994	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6507319	22474994	123889028	726	130244											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864481	22864481	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccccaagccaccgcccccGatcatcgtggtgcccgaccc	8	23	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:22864481G>A	uc003xcq.2	+	5	1260	c.723G>A	c.(721-723)CCG>CCA	p.P241P	RHOBTB2_uc003xcp.2_Silent_p.P263P|RHOBTB2_uc011kzp.1_Silent_p.P248P|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CACCGCCCCCGATCATCGTGG	0.692													A	22864481	G	A	22864481	2	1	264	1	0	0	0	0	0	0	0	1	13334	1045	37	1		1	RHOBTB2	8	22864481	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	389487	22864481	123499541	727	130245											
LOXL2	4017	broad.mit.edu	37	chr8	23190934	23190934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcttgtacgctttccGgaatcttgagggtccgtcag	12	11	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:23190934G>A	uc003xdh.1	-	5	1285	c.946C>T	c.(946-948)CGG>TGG	p.R316W	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	316					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)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TACGCTTTCCGGAATCTTGAG	0.617													A	23190934	G	A	23190934	3	1	264	1	0	0	0	0	1	0	0	0	8900	1115	39	1	1418	1	LOXL2	8	23190934	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	326453	23190934	123173088	728	130246											
ADAM28	10863	broad.mit.edu	37	chr8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A													aattgcagtgctttatttgaINSaaaaaaacaagtaagtatct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													A	24167474	-	A	24167473	7	5	264	1	0	1	1	0	0	0	0	0	246	247	9	0	227	0	ADAM28	8	24167473	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	976539	24167473	122196549	729	130247											
DOCK5	80005	broad.mit.edu	37	chr8	25258582	25258582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactatggggttataacactGgtaagcatgatctaagtagc	10	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:25258582G>A	uc003xeg.2	+	47	5063	c.4926G>A	c.(4924-4926)CTG>CTA	p.L1642L	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1642						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		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)		TTATAACACTGGTAAGCATGA	0.433													A	25258582	G	A	25258582	2	1	264	1	0	0	0	0	0	0	0	1	4690	1362	47	4		4	DOCK5	8	25258582	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1091109	25258582	121105440	730	130248											
KCTD9	54793	broad.mit.edu	37	chr8	25296837	25296837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaatgagctgtccatgacGcaagtagttcaaaatgggtt	10	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:25296837G>A	uc003xeo.2	-	6	615	c.457C>T	c.(457-459)CGT>TGT	p.R153C	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	153	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TGTCCATGACGCAAGTAGTTC	0.353													A	25296837	G	A	25296837	3	1	264	1	0	0	0	0	1	0	0	0	8116	1087	38	1	740	1	KCTD9	8	25296837	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	38255	25296837	121067185	731	130249											
ESCO2	157570	broad.mit.edu	37	chr8	27650255	27650255	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctaaatgtccaaacaAaataaaaacttttcttttta	2	7	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:27650255A>C	uc003xgg.2	+	9	1507	c.1424A>C	c.(1423-1425)AAA>ACA	p.K475T	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	475					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		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)		TGTCCAAACAAAATAAAAACT	0.313									SC_Phocomelia_syndrome				C	27650255	A	C	27650255	3	2	264	1	0	0	0	0	1	0	0	0	5249	14	1	5	1454	5	ESCO2	8	27650255	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2353418	27650255	118713767	732	130250											
TEX15	56154	broad.mit.edu	37	chr8	30704079	30704079	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaataaatgtcaaatcCtagaatttctccatcttcct	5	10	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:30704079C>A	uc003xil.2	-	1	2455	c.2455G>T	c.(2455-2457)GGA>TGA	p.G819*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	819										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGTCAAATCCTAGAATTTCT	0.393													A	30704079	C	A	30704079	4	1	264	1	0	0	0	0	0	1	0	0	15776	690	24	5	5930	5	TEX15	8	30704079	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3053824	30704079	115659943	733	130251											
KCNU1	157855	broad.mit.edu	37	chr8	36675233	36675233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctgaggaatttcctccGcgacaagtcaggagagatca	10	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:36675233G>A	uc010lvw.2	+	10	1148	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	354	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AATTTCCTCCGCGACAAGTCA	0.433													A	36675233	G	A	36675233	3	1	264	1	0	0	0	0	1	0	0	0	8093	1087	38	1	1099	1	KCNU1	8	36675233	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5971154	36675233	109688789	734	130252											
KCNU1	157855	broad.mit.edu	37	chr8	36692338	36692338	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcctgattatagccaAtcctttgtgcagtgattccc	9	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:36692338A>T	uc010lvw.2	+	12	1334	c.1247A>T	c.(1246-1248)AAT>ATT	p.N416I	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	416	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTATAGCCAATCCTTTGTGC	0.403													T	36692338	A	T	36692338	3	4	264	1	0	0	0	0	1	0	0	0	8093	101	4	5	1293	5	KCNU1	8	36692338	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	17105	36692338	109671684	735	130253											
KCNU1	157855	broad.mit.edu	37	chr8	36788639	36788639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcttctgtccttacaCgaaaccattttatcagacgt	8	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:36788639C>T	uc010lvw.2	+	25	2994	c.2907C>T	c.(2905-2907)CAC>CAT	p.H969H	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	969	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTCCTTACACGAAACCATTT	0.418													T	36788639	C	T	36788639	2	4	264	1	0	0	0	0	0	0	0	1	8093	535	19	1		1	KCNU1	8	36788639	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	96301	36788639	109575383	736	130254											
ADRB3	155	broad.mit.edu	37	chr8	37822792	37822792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttacctacccgtcgagcCgttggcaaagcctgggctgc	13	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:37822792C>T	uc003xkr.1	-	1	1393	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	399	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CCCGTCGAGCCGTTGGCAAAG	0.582													T	37822792	C	T	37822792	3	4	264	1	0	0	0	0	1	0	0	0	342	652	23	1	38	1	ADRB3	8	37822792	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1034153	37822792	108541230	737	130255											
DDHD2	23259	broad.mit.edu	37	chr8	38117583	38117583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatacagtattgctcGtcctcaaagagatctaccaa	7	10	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38117583G>A	uc003xlb.2	+	17	2457	c.2080G>A	c.(2080-2082)GTC>ATC	p.V694I	DDHD2_uc003xlc.2_Missense_Mutation_p.V694I|DDHD2_uc003xld.2_Missense_Mutation_p.V313I	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	694	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGTATTGCTCGTCCTCAAAGA	0.294													A	38117583	G	A	38117583	3	1	264	1	0	0	0	0	1	0	0	0	4327	1145	40	1	2204	1	DDHD2	8	38117583	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	294791	38117583	108246439	738	130256											
WHSC1L1	54904	broad.mit.edu	37	chr8	38194920	38194920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttggaccacacaagatcGccaacctgaaacttaacacc	5	15	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38194920G>A	uc003xli.2	-	4	1331	c.813C>T	c.(811-813)GGC>GGT	p.G271G	WHSC1L1_uc011lbm.1_Silent_p.G271G|WHSC1L1_uc010lwe.2_Silent_p.G271G|WHSC1L1_uc003xlj.2_Silent_p.G271G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	271	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			ACACAAGATCGCCAACCTGAA	0.433			T	NUP98	AML								A	38194920	G	A	38194920	2	1	264	1	0	0	0	0	0	0	0	1	17360	1074	38	1		1	WHSC1L1	8	38194920	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	77337	38194920	108169102	739	130257											
HTRA4	203100	broad.mit.edu	37	chr8	38839286	38839286	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatgagcaccagatgaaaGgtaaagcaagttgggatttt	11	6	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38839286G>T	uc003xmj.2	+	6	1229	c.1114G>T	c.(1114-1116)GGA>TGA	p.G372*		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	372					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGATGAAAGGTAAAGCAAG	0.373													T	38839286	G	T	38839286	4	4	264	1	0	0	0	0	0	1	0	0	7456	1014	35	5	1136	5	HTRA4	8	38839286	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	644366	38839286	107524736	740	130258											
ADAM9	8754	broad.mit.edu	37	chr8	38934828	38934828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgctattattcaaacGcctagtcgaggcaccaaatg	9	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38934828G>A	uc003xmr.2	+	16	1857	c.1779G>A	c.(1777-1779)ACG>ACA	p.T593T	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	593	Cys-rich.|Extracellular (Potential).				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|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|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			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTATTCAAACGCCTAGTCGAG	0.433													A	38934828	G	A	38934828	2	1	264	1	0	0	0	0	0	0	0	1	253	1074	38	1		1	ADAM9	8	38934828	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	95542	38934828	107429194	741	130259											
AGPAT6	137964	broad.mit.edu	37	chr8	41456803	41456803	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaaactctacatgaaaAgtctgttaaaaatctttgcg	6	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:41456803A>C	uc003xnz.2	+	2	1084	c.145A>C	c.(145-147)AGT>CGT	p.S49R		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	49					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				0	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)			CTACATGAAAAGTCTGTTAAA	0.428													C	41456803	A	C	41456803	3	2	264	1	0	0	0	0	1	0	0	0	391	72	3	5	147	5	AGPAT6	8	41456803	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2521975	41456803	104907219	742	130260											
NKX6-3	157848	broad.mit.edu	37	chr8	41504781	41504781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccccagggcagctgagCggctgatgaggagggcgcag	18	12	0	3	rs143818219	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:41504781C>T	uc003xoa.2	-	1	98	c.94G>A	c.(94-96)GCT>ACT	p.A32T	NKX6-3_uc010lxa.1_Missense_Mutation_p.A32T	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	Error:Variant_position_missing_in_A6NJ46_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	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)			GGCAGCTGAGCGGCTGATGAG	0.647													T	41504781	C	T	41504781	3	4	264	1	0	0	0	0	1	0	0	0	10459	768	27	1	321	1	NKX6-3	8	41504781	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	47978	41504781	104859241	743	130261											
ANK1	286	broad.mit.edu	37	chr8	41561606	41561606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttttcagaagcagagtcaCgatgtctgtgtgtccctgct	11	9	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:41561606C>T	uc003xok.2	-	20	2332	c.2248G>A	c.(2248-2250)GTG>ATG	p.V750M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V58M|ANK1_uc003xoi.2_Missense_Mutation_p.V750M|ANK1_uc003xoj.2_Missense_Mutation_p.V750M|ANK1_uc003xol.2_Missense_Mutation_p.V750M|ANK1_uc003xom.2_Missense_Mutation_p.V783M	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	750	ANK 22.|89 kDa domain.		V -> A.		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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			AGCAGAGTCACGATGTCTGTG	0.552													T	41561606	C	T	41561606	3	4	264	1	0	0	0	0	1	0	0	0	620	536	19	1	3843	1	ANK1	8	41561606	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	56825	41561606	104802416	744	130262											
PRKDC	5591	broad.mit.edu	37	chr8	48732013	48732013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctgttaaagcctgtAcagactgcaatttggtgagt	10	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:48732013A>G	uc003xqi.2	-	68	9452	c.9395T>C	c.(9394-9396)GTA>GCA	p.V3132A	PRKDC_uc003xqj.2_Missense_Mutation_p.V3132A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3132	KIP-binding.|FAT.				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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGCCTGTACAGACTGCAA	0.303								NHEJ					G	48732013	A	G	48732013	3	3	264	1	0	0	0	0	1	0	0	0	12521	391	14	3	3071	3	PRKDC	8	48732013	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	7170407	48732013	97632009	745	130263											
PRKDC	5591	broad.mit.edu	37	chr8	48815346	48815346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactgtcaacagggtccaCaattccatcctgaaacaaaa	6	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:48815346C>T	uc003xqi.2	-	27	3109	c.3052G>A	c.(3052-3054)GTG>ATG	p.V1018M	PRKDC_uc003xqj.2_Missense_Mutation_p.V1018M|PRKDC_uc011ldh.1_Missense_Mutation_p.V1018M	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1018	HEAT 2.				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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACAGGGTCCACAATTCCATCC	0.378								NHEJ					T	48815346	C	T	48815346	3	4	264	1	0	0	0	0	1	0	0	0	12521	478	17	4	9573	4	PRKDC	8	48815346	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	83333	48815346	97548676	746	130264											
NPBWR1	2831	broad.mit.edu	37	chr8	53853263	53853263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcctcctctgctggacgCcctaccacctgagcaccgtg	10	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:53853263C>T	uc011ldu.1	+	1	796	c.796C>T	c.(796-798)CCC>TCC	p.P266S		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	266	Helical; Name=6; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CTGCTGGACGCCCTACCACCT	0.657													T	53853263	C	T	53853263	3	4	264	1	0	0	0	0	1	0	0	0	10568	739	26	2	798	2	NPBWR1	8	53853263	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5037917	53853263	92510759	747	130265											
OPRK1	4986	broad.mit.edu	37	chr8	54141919	54141919	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcctgaactgtatttcGgactctgctagtgctctgcc	10	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:54141919G>A	uc003xrh.1	-	3	1456	c.1081C>T	c.(1081-1083)CGA>TGA	p.R361*	OPRK1_uc003xri.1_Nonsense_Mutation_p.R361*|OPRK1_uc010lyc.1_Nonsense_Mutation_p.R272*	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	361	Cytoplasmic (Potential).				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			ovary(1)|skin(1)	2		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)	ACTGTATTTCGGACTCTGCTA	0.483													A	54141919	G	A	54141919	4	1	264	1	0	0	0	0	0	1	0	0	10885	1124	39	1	65	1	OPRK1	8	54141919	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	288656	54141919	92222103	748	130266											
OPRK1	4986	broad.mit.edu	37	chr8	54142147	54142147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgggagtccagcagaCgacgaagactgccaccacca	12	12	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:54142147C>T	uc003xrh.1	-	3	1228	c.853G>A	c.(853-855)GTC>ATC	p.V285I	OPRK1_uc003xri.1_Missense_Mutation_p.V285I|OPRK1_uc010lyc.1_Missense_Mutation_p.V196I	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	285	Helical; Name=6; (Potential).				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			ovary(1)|skin(1)	2		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)	GTCCAGCAGACGACGAAGACT	0.577													T	54142147	C	T	54142147	3	4	264	1	0	0	0	0	1	0	0	0	10885	536	19	1	293	1	OPRK1	8	54142147	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	228	54142147	92221875	749	130267											
RGS20	8601	broad.mit.edu	37	chr8	54791966	54791966	+	Frame_Shift_Del	DEL	C	C	-													ccggaggcgcctggacttctCccccctgcttcccgccctgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:54791965_54791965TC>T	uc003xrp.3	+	1	405	c.313_313TC>T	c.(313-315)tccfs	p.S105fs	RGS20_uc003xrq.3_Intron|RGS20_uc010lye.3_Intron|RGS20_uc010lyf.3_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.3_5'Flank|RGS20_uc003xrt.3_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	Homo sapiens regulator of G-protein signaling 20 (RGS20), transcript variant 1, mRNA.	105					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)			CCTGGACTTCTCCCCCCTGCT	0.731													-	54791966	C	-	54791966	7	5	264	1	0	1	0	1	0	0	0	0	13303	855	30	0	320	0	RGS20	8	54791966	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	649819	54791966	91572056	750	130268											
SOX17	64321	broad.mit.edu	37	chr8	55371807	55371807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagccgcaggcggccgCgctgggccccgagggcggcc	20	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:55371807C>T	uc003xsb.3	+	2	701	c.497C>T	c.(496-498)GCG>GTG	p.A166V		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	166					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CAGGCGGCCGCGCTGGGCCCC	0.761													T	55371807	C	T	55371807	3	4	264	1	0	0	0	0	1	0	0	0	14947	768	27	1	503	1	SOX17	8	55371807	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	579841	55371807	90992215	751	130269											
CHD7	55636	broad.mit.edu	37	chr8	61765442	61765442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagaggagcgagcctctcGaactctgtaccgcattgagc	11	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:61765442G>A	uc003xue.2	+	31	6635	c.6158G>A	c.(6157-6159)CGA>CAA	p.R2053Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2053					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			CGAGCCTCTCGAACTCTGTAC	0.552													A	61765442	G	A	61765442	3	1	264	1	0	0	0	0	1	0	0	0	3330	1058	37	1	6276	1	CHD7	8	61765442	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6393635	61765442	84598580	752	130270											
TRIM55	84675	broad.mit.edu	37	chr8	67047354	67047354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcacacaaagactgccaGgtggctcccctcactcatgt	10	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:67047354G>A	uc003xvv.2	+	3	697	c.471G>A	c.(469-471)CAG>CAA	p.Q157Q	TRIM55_uc003xvu.2_Silent_p.Q157Q|TRIM55_uc003xvw.2_Silent_p.Q157Q|TRIM55_uc003xvx.2_Silent_p.Q157Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	157						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		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)			AAGACTGCCAGGTGGCTCCCC	0.572													A	67047354	G	A	67047354	2	1	264	1	0	0	0	0	0	0	0	1	16526	991	35	4		4	TRIM55	8	67047354	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5281912	67047354	79316668	753	130271											
ARFGEF1	10565	broad.mit.edu	37	chr8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G													acttacaggagatggaggtgINSggggggcagtttctccagaa					rs142098461		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					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)			GAGATGGAGGTGGGGGGGCAGT	0.421													G	68128857	-	G	68128856	7	5	264	1	0	1	1	0	0	0	0	0	852	1348	47	0	922	0	ARFGEF1	8	68128856	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1081502	68128856	78235166	754	130272											
SULF1	23213	broad.mit.edu	37	chr8	70476323	70476323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacggatacagcaggaacGaaaaaacatccgacccaaca	9	11	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:70476323G>A	uc010lza.1	+	5	830	c.113G>A	c.(112-114)CGA>CAA	p.R38Q	SULF1_uc003xyd.2_Missense_Mutation_p.R38Q|SULF1_uc003xye.2_Missense_Mutation_p.R38Q|SULF1_uc003xyf.2_Missense_Mutation_p.R38Q|SULF1_uc003xyg.2_Missense_Mutation_p.R38Q	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	38					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGCAGGAACGAAAAAACATC	0.493													A	70476323	G	A	70476323	3	1	264	1	0	0	0	0	1	0	0	0	15369	1058	37	1	115	1	SULF1	8	70476323	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2347467	70476323	75887699	755	130273											
SULF1	23213	broad.mit.edu	37	chr8	70488304	70488304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccatgtgctgcccgtcacGgtcctccatgctcaccggga	10	17	2	0	rs149786573	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:70488304G>T	uc010lza.1	+	6	989	c.272G>T	c.(271-273)CGG>CTG	p.R91L	SULF1_uc003xyd.2_Missense_Mutation_p.R91L|SULF1_uc003xye.2_Missense_Mutation_p.R91L|SULF1_uc003xyf.2_Missense_Mutation_p.R91L|SULF1_uc003xyg.2_Missense_Mutation_p.R91L	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	91					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGCCCGTCACGGTCCTCCATG	0.542													T	70488304	G	T	70488304	3	4	264	1	0	0	0	0	1	0	0	0	15369	1116	39	5	278	5	SULF1	8	70488304	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	11981	70488304	75875718	756	130274											
JPH1	56704	broad.mit.edu	37	chr8	75227517	75227517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatggccgcgtcgctgcGgacagagctgcgcttgctcg	15	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:75227517G>A	uc003yae.2	-	2	758	c.718C>T	c.(718-720)CGC>TGC	p.R240C	JPH1_uc003yaf.2_Missense_Mutation_p.R240C|JPH1_uc003yag.1_Missense_Mutation_p.R104C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	240	Cytoplasmic (Potential).|Ser-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				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGTCGCTGCGGACAGAGCTG	0.557													A	75227517	G	A	75227517	3	1	264	1	0	0	0	0	1	0	0	0	7960	1116	39	1	1283	1	JPH1	8	75227517	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4739213	75227517	71136505	757	130275											
ZFHX4	79776	broad.mit.edu	37	chr8	77617140	77617140	+	Frame_Shift_Del	DEL	A	A	-													atggttgtgttagcgatgggAaaaggaaacctgttttaatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:77617139_77617139GA>G	uc003yau.2	+	1	1203	c.816_816GA>G	c.(814-816)gggfs	p.G272fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.G272fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.G272fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	272						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)			TTAGCGATGGGAAAAGGAAAC	0.423										HNSCC(33;0.089)			-	77617140	A	-	77617140	7	5	264	1	0	1	0	1	0	0	0	0	17632	247	9	0	819	0	ZFHX4	8	77617140	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	2389623	77617140	68746882	758	130276											
PMP2	5375	broad.mit.edu	37	chr8	82356736	82356736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtaaagatactcttaccGctaccattttcccattcact	4	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:82356736G>A	uc003ycb.1	-	3	445	c.347C>T	c.(346-348)GCG>GTG	p.A116V	PMP2_uc010lzv.1_RNA	NM_002677	NP_002668	P02689	MYP2_HUMAN	peripheral myelin protein 2	116						cytoplasm	cholesterol binding|fatty acid binding|transporter activity				0			Epithelial(68;0.186)			TACTCTTACCGCTACCATTTT	0.338													A	82356736	G	A	82356736	3	1	264	1	0	0	0	0	1	0	0	0	12138	1101	38	1	59	1	PMP2	8	82356736	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4739596	82356736	64007286	759	130277											
ZFAND1	79752	broad.mit.edu	37	chr8	82627068	82627068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaacaagtttctgagtgGcagccattcgaggctttggg	12	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:82627068G>A	uc003ycj.1	-	5	343	c.329C>T	c.(328-330)GCC>GTC	p.A110V	ZFAND1_uc010lzx.1_Missense_Mutation_p.A110V|ZFAND1_uc003yck.1_Missense_Mutation_p.A3V	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	110	AN1-type 2.						zinc ion binding			ovary(1)	1						TTTCTGAGTGGCAGCCATTCG	0.408													A	82627068	G	A	82627068	3	1	264	1	0	0	0	0	1	0	0	0	17623	1203	42	2	541	2	ZFAND1	8	82627068	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	270332	82627068	63736954	760	130278											
SLC7A13	157724	broad.mit.edu	37	chr8	87229781	87229781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatagaccataatgaacccGtgaaaaaaatatagtttatc	5	6	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:87229781G>A	uc003ydq.1	-	3	1195	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	SLC7A13_uc003ydr.1_Missense_Mutation_p.T357M	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	366	Helical; Name=10; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						TAATGAACCCGTGAAAAAAAT	0.333													A	87229781	G	A	87229781	3	1	264	1	0	0	0	0	1	0	0	0	14695	1145	40	1	323	1	SLC7A13	8	87229781	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4602713	87229781	59134241	761	130279											
NBN	4683	broad.mit.edu	37	chr8	90958413	90958413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgaccataatcatcattTatgccagatggatttctgga	8	7	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:90958413T>C	uc003yej.1	-	13	2135	c.2025A>G	c.(2023-2025)ATA>ATG	p.I675M	NBN_uc003yei.1_Missense_Mutation_p.I593M|NBN_uc011lgb.1_Missense_Mutation_p.I675M	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	675					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			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATCATCATTTATGCCAGATG	0.318								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				C	90958413	T	C	90958413	3	2	264	1	0	0	0	0	1	0	0	0	10191	1744	61	3	255	3	NBN	8	90958413	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3728632	90958413	55405609	762	130280											
NECAB1	64168	broad.mit.edu	37	chr8	91929840	91929840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaaactactgaggagCaaacccgtcaagaaaggcaa	10	10	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:91929840C>A	uc011lgg.1	+	6	672	c.478C>A	c.(478-480)CAA>AAA	p.Q160K		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	160	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TACTGAGGAGCAAACCCGTCA	0.383													A	91929840	C	A	91929840	3	1	264	1	0	0	0	0	1	0	0	0	10304	711	25	5	500	5	NECAB1	8	91929840	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	971427	91929840	54434182	763	130281											
CDH17	1015	broad.mit.edu	37	chr8	95164109	95164109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttaccttatgtccagacCttctggatccttggcagtca	7	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:95164109C>A	uc003ygh.2	-	13	1908	c.1783G>T	c.(1783-1785)GGT>TGT	p.G595C	CDH17_uc011lgo.1_Missense_Mutation_p.G381C|CDH17_uc011lgp.1_Missense_Mutation_p.G595C	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	595	Cadherin 6.|Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGTCCAGACCTTCTGGATCC	0.537													A	95164109	C	A	95164109	3	1	264	1	0	0	0	0	1	0	0	0	3102	681	24	5	739	5	CDH17	8	95164109	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3234269	95164109	51199913	764	130282											
VPS13B	157680	broad.mit.edu	37	chr8	100733153	100733153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaactgaagattgcccaGggatgatgttatggagatat	12	4	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:100733153G>T	uc003yiv.2	+	39	7114	c.7003G>T	c.(7003-7005)GGG>TGG	p.G2335W	VPS13B_uc003yiw.2_Missense_Mutation_p.G2310W	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2335					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGATTGCCCAGGGATGATGTT	0.358													T	100733153	G	T	100733153	3	4	264	1	0	0	0	0	1	0	0	0	17187	1000	35	5	7347	5	VPS13B	8	100733153	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5569044	100733153	45630869	765	130283											
NCALD	83988	broad.mit.edu	37	chr8	102701588	102701588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaggcgcacaatggaCgggtcgcttttggctcctcg	15	11	0	0	rs145504685		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:102701588C>T	uc003yke.2	-	4	900	c.531G>A	c.(529-531)CCG>CCA	p.P177P	NCALD_uc003ykf.2_Silent_p.P177P|NCALD_uc003ykg.2_Silent_p.P177P|NCALD_uc003ykh.2_Silent_p.P177P|NCALD_uc003yki.2_Silent_p.P177P|NCALD_uc003ykj.2_Silent_p.P177P|NCALD_uc003ykk.2_Silent_p.P177P|NCALD_uc003ykl.2_Silent_p.P177P	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	177	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				0	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)			GCACAATGGACGGGTCGCTTT	0.577													T	102701588	C	T	102701588	2	4	264	1	0	0	0	0	0	0	0	1	10201	523	19	1		1	NCALD	8	102701588	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1968435	102701588	43662434	766	130284											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478937	110478937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagctttcaccgtttagcGttcaaccagccttctccagt	7	14	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:110478937G>A	uc003yne.2	+	50	8648	c.8544G>A	c.(8542-8544)GCG>GCA	p.A2848A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2848	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCGTTTAGCGTTCAACCAGC	0.418										HNSCC(38;0.096)			A	110478937	G	A	110478937	2	1	264	1	0	0	0	0	0	0	0	1	11972	1132	40	1		1	PKHD1L1	8	110478937	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7777349	110478937	35885085	767	130285											
SYBU	55638	broad.mit.edu	37	chr8	110587966	110587966	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggaaagtctaggcacagTtcgtccctcagagagccact	10	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:110587966T>C	uc003ynj.3	-	7	1324	c.1161A>G	c.(1159-1161)GAA>GAG	p.E387E	SYBU_uc003yni.3_Silent_p.E384E|SYBU_uc003ynk.3_Silent_p.E268E|SYBU_uc010mco.2_Silent_p.E386E|SYBU_uc003ynl.3_Silent_p.E386E|SYBU_uc010mcp.2_Silent_p.E387E|SYBU_uc010mcq.2_Silent_p.E387E|SYBU_uc003yno.3_Silent_p.E268E|SYBU_uc010mcr.2_Silent_p.E387E|SYBU_uc003ynm.3_Silent_p.E386E|SYBU_uc003ynn.3_Silent_p.E386E|SYBU_uc010mcs.2_Silent_p.E268E|SYBU_uc010mct.2_Silent_p.E387E|SYBU_uc010mcu.2_Silent_p.E386E|SYBU_uc003ynp.3_Silent_p.E319E|SYBU_uc010mcv.2_Silent_p.E387E|SYBU_uc003ynh.3_Silent_p.E181E|SYBU_uc011lhw.1_Silent_p.E257E	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	387	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CTAGGCACAGTTCGTCCCTCA	0.483													C	110587966	T	C	110587966	2	2	264	1	0	0	0	0	0	0	0	1	15424	1722	60	3		3	SYBU	8	110587966	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	109029	110587966	35776056	768	130286											
CSMD3	114788	broad.mit.edu	37	chr8	113314144	113314144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagccatatgaagtttgaGttccaatcttatttccattt	6	7	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:113314144G>T	uc003ynu.2	-	53	8477	c.8318C>A	c.(8317-8319)ACT>AAT	p.T2773N	CSMD3_uc003yns.2_Missense_Mutation_p.T1975N|CSMD3_uc003ynt.2_Missense_Mutation_p.T2733N|CSMD3_uc011lhx.1_Missense_Mutation_p.T2604N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2773	Extracellular (Potential).|Sushi 17.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGAAGTTTGAGTTCCAATCTT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113314144	G	T	113314144	3	4	264	1	0	0	0	0	1	0	0	0	3946	1029	36	5	2881	5	CSMD3	8	113314144	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2726178	113314144	33049878	769	130287											
RAD21	5885	broad.mit.edu	37	chr8	117868981	117868981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggatcatcaaagatacCgccatcattattactaataa	7	8	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:117868981C>T	uc003yod.2	-	7	1006	c.718G>A	c.(718-720)GGT>AGT	p.G240S		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	240					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			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCAAAGATACCGCCATCATTA	0.403													T	117868981	C	T	117868981	3	4	264	1	0	0	0	0	1	0	0	0	12981	652	23	1	1209	1	RAD21	8	117868981	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4554837	117868981	28495041	770	130288											
SNTB1	6641	broad.mit.edu	37	chr8	121705999	121705999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagggggatgcttttccGgtctctgtggaaggagaagg	17	5	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:121705999G>A	uc010mdg.2	-	2	947	c.721C>T	c.(721-723)CGG>TGG	p.R241W	SNTB1_uc003ype.2_Missense_Mutation_p.R241W	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	241	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGCTTTTCCGGTCTCTGTGG	0.557													A	121705999	G	A	121705999	3	1	264	1	0	0	0	0	1	0	0	0	14872	1115	39	1	919	1	SNTB1	8	121705999	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3837018	121705999	24658023	771	130289											
ZHX2	22882	broad.mit.edu	37	chr8	123966246	123966246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactccgactgcgtccctgcAgaggctggccaggcctagac	13	15	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:123966246A>G	uc003ypk.1	+	3	3063	c.2496A>G	c.(2494-2496)GCA>GCG	p.A832A		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	832						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGTCCCTGCAGAGGCTGGCC	0.557													G	123966246	A	G	123966246	2	3	264	1	0	0	0	0	0	0	0	1	17673	175	7	3		3	ZHX2	8	123966246	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2260247	123966246	22397776	772	130290											
FER1L6	654463	broad.mit.edu	37	chr8	125083872	125083872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagagtatacattgtcgcGgtgagccattcttgtttgct	10	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:125083872G>A	uc003yqw.2	+	31	4298	c.4092G>A	c.(4090-4092)GCG>GCA	p.A1364A	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1364	C2 5.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACATTGTCGCGGTGAGCCATT	0.358													A	125083872	G	A	125083872	2	1	264	1	0	0	0	0	0	0	0	1	5815	1130	39	1		1	FER1L6	8	125083872	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1117626	125083872	21280150	773	130291											
TRMT12	55039	broad.mit.edu	37	chr8	125463683	125463683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcacttggcgtccagcGtttggcaaaacgagggcggg	16	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:125463683G>A	uc003yra.3	+	1	636	c.515G>A	c.(514-516)CGT>CAT	p.R172H		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	172					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCGTCCAGCGTTTGGCAAAA	0.542													A	125463683	G	A	125463683	3	1	264	1	0	0	0	0	1	0	0	0	16561	1145	40	1	517	1	TRMT12	8	125463683	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	379811	125463683	20900339	774	130292											
KIAA0196	9897	broad.mit.edu	37	chr8	126087249	126087249	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttagaacctacctgttctctGacatttgaaaggtccagggt	9	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:126087249G>C	uc003yrt.2	-	8	1298	c.969C>G	c.(967-969)GTC>GTG	p.V323V	KIAA0196_uc011lir.1_Silent_p.V175V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	323					cell death	WASH complex				ovary(2)	2	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)			CCTGTTCTCTGACATTTGAAA	0.383													C	126087249	G	C	126087249	2	2	264	1	0	0	0	0	0	0	0	1	8161	1277	45	5		5	KIAA0196	8	126087249	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	623566	126087249	20276773	775	130293											
ADCY8	114	broad.mit.edu	37	chr8	132002689	132002689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggcctccacacacctccGagtctccaggaaagcttggc	9	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:132002689G>A	uc003ytd.3	-	2	1316	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W	ADCY8_uc010mds.2_Missense_Mutation_p.R354W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	354	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACACACCTCCGAGTCTCCAGG	0.537										HNSCC(32;0.087)			A	132002689	G	A	132002689	3	1	264	1	0	0	0	0	1	0	0	0	300	1057	37	1	2763	1	ADCY8	8	132002689	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5915440	132002689	14361333	776	130294											
KCNQ3	3786	broad.mit.edu	37	chr8	133150209	133150209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcacatccttcacatcGtaaggcctcaaagtctcctt	4	14	5	0	rs138900075		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:133150209G>A	uc003ytj.2	-	12	1848	c.1623C>T	c.(1621-1623)TAC>TAT	p.Y541Y	KCNQ3_uc010mdt.2_Silent_p.Y541Y	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	541					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTTCACATCGTAAGGCCTCA	0.458													A	133150209	G	A	133150209	2	1	264	1	0	0	0	0	0	0	0	1	8084	1140	40	1		1	KCNQ3	8	133150209	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1147520	133150209	13213813	777	130295											
TG	7038	broad.mit.edu	37	chr8	133920431	133920431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggtgcttgcctgcagGgccccagctgtggcagacca	13	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:133920431G>A	uc003ytw.2	+	18	3889	c.3848G>A	c.(3847-3849)CGG>CAG	p.R1283Q	TG_uc010mdw.2_Missense_Mutation_p.R42Q	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1283					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TTGCCTGCAGGGCCCCAGCTG	0.542													A	133920431	G	A	133920431	3	1	264	1	0	0	0	0	1	0	0	0	15810	1246	43	4	3918	4	TG	8	133920431	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	770222	133920431	12443591	778	130296											
EIF2C2	27161	broad.mit.edu	37	chr8	141567270	141567270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgcagaaccaacttgtgcCtgtccttgaaatactgggcc	10	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:141567270C>A	uc003yvn.2	-	8	984	c.944G>T	c.(943-945)AGG>ATG	p.R315M	EIF2C2_uc010men.2_Missense_Mutation_p.R238M|EIF2C2_uc010meo.2_Missense_Mutation_p.R315M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	315	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CAACTTGTGCCTGTCCTTGAA	0.592													A	141567270	C	A	141567270	3	1	264	1	0	0	0	0	1	0	0	0	5006	681	24	5	1683	5	EIF2C2	8	141567270	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7646839	141567270	4796752	779	130297											
FLJ43860	389690	broad.mit.edu	37	chr8	142450394	142450394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggacctcagggctggggtCgtggaggccttgtgccagca	18	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:142450394C>T	uc003ywi.2	-	26	3235	c.3154G>A	c.(3154-3156)GAC>AAC	p.D1052N	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1052							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GGGCTGGGGTCGTGGAGGCCT	0.632													T	142450394	C	T	142450394	3	4	264	1	0	0	0	0	1	0	0	0	5930	884	31	1	830	1	FLJ43860	8	142450394	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	883124	142450394	3913628	780	130298											
BAI1	575	broad.mit.edu	37	chr8	143570761	143570761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccccgcctcgctccctgCgcacacccttggagatcgag	9	19	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:143570761C>T	uc003ywm.2	+	15	2776	c.2593C>T	c.(2593-2595)CGC>TGC	p.R865C		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	865	Extracellular (Potential).				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	p.R865C(1)		lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					TCGCTCCCTGCGCACACCCTT	0.587													T	143570761	C	T	143570761	3	4	264	1	0	0	0	0	1	0	0	0	1298	768	27	1	2651	1	BAI1	8	143570761	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1120367	143570761	2793261	781	130299											
LYPD2	137797	broad.mit.edu	37	chr8	143832520	143832520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtttcgttggtggtgcAggtggcgatggtgacacagt	17	6	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:143832520A>G	uc003ywz.2	-	2	210	c.127T>C	c.(127-129)TGC>CGC	p.C43R		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	43	UPAR/Ly6.					anchored to membrane|plasma membrane					0	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)					TTGGTGGTGCAGGTGGCGATG	0.657													G	143832520	A	G	143832520	3	3	264	1	0	0	0	0	1	0	0	0	9110	188	7	3	258	3	LYPD2	8	143832520	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	261759	143832520	2531502	782	130300											
ZC3H3	23144	broad.mit.edu	37	chr8	144590005	144590005	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggcgtcttcttgacAatgcggtagcgggtcttgat	15	9	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144590005A>G	uc003yyd.2	-	4	1655	c.1626T>C	c.(1624-1626)ATT>ATC	p.I542I		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	542					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			TCTTCTTGACAATGCGGTAGC	0.652													G	144590005	A	G	144590005	2	3	264	1	0	0	0	0	0	0	0	1	17566	126	5	3		3	ZC3H3	8	144590005	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	757485	144590005	1774017	783	130301											
ZC3H3	23144	broad.mit.edu	37	chr8	144620682	144620682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcctgggtcctgaggcCggtctggcggggccccccac	16	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144620682C>T	uc003yyd.2	-	2	884	c.855G>A	c.(853-855)CCG>CCA	p.P285P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	285					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			GTCCTGAGGCCGGTCTGGCGG	0.622													T	144620682	C	T	144620682	2	4	264	1	0	0	0	0	0	0	0	1	17566	639	23	1		1	ZC3H3	8	144620682	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	30677	144620682	1743340	784	130302											
EEF1D	1936	broad.mit.edu	37	chr8	144663327	144663327	+	Splice_Site	DEL	G	G	-													gctgcagctcctgtaccactGggggggcaaggggagcacgg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144663326_144663326TG>T	uc003yyq.2	-	5	1767	c.1538_splice	c.e5-1	p.V513_splice	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Splice_Site_p.V439_splice|EEF1D_uc011lki.2_Splice_Site_p.V97_splice|EEF1D_uc003yyv.3_Splice_Site_p.V73_splice|EEF1D_uc003yyu.3_Splice_Site_p.V97_splice|EEF1D_uc011lkk.2_Splice_Site_p.V97_splice|EEF1D_uc003yyt.3_Splice_Site_p.V463_splice|EEF1D_uc003yyr.3_Splice_Site_p.V463_splice|EEF1D_uc003yys.3_Splice_Site_p.V97_splice|EEF1D_uc011lkl.2_Splice_Site_p.V78_splice	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	97					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)			CCTGTACCACTGGGGGGGCAA	0.692													-	144663327	G	-	144663327	8	5	264	1	0	1	0	1	0	0	1	0	4926	1363	47	0		0	EEF1D	8	144663327	Splice_Site	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	42645	144663327	1700695	785	130303											
FAM83H	286077	broad.mit.edu	37	chr8	144808238	144808238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgaagcggctgtacacGcgcttctccttgcgcatgct	10	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144808238G>A	uc003yzk.2	-	5	3462	c.3393C>T	c.(3391-3393)CGC>CGT	p.R1131R	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1131					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			GGCTGTACACGCGCTTCTCCT	0.701													A	144808238	G	A	144808238	2	1	264	1	0	0	0	0	0	0	0	1	5640	1074	38	1		1	FAM83H	8	144808238	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	144911	144808238	1555784	786	130304											
FAM83H	286077	broad.mit.edu	37	chr8	144812611	144812611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggtgccccctcggtagCgaggaagcggctgtaggcct	16	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144812611C>T	uc003yzk.2	-	2	211	c.142G>A	c.(142-144)GCT>ACT	p.A48T	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	48					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			CCCTCGGTAGCGAGGAAGCGG	0.637													T	144812611	C	T	144812611	3	4	264	1	0	0	0	0	1	0	0	0	5640	768	27	1	3413	1	FAM83H	8	144812611	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4373	144812611	1551411	787	130305											
SCRIB	23513	broad.mit.edu	37	chr8	144891828	144891828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggctcagcctcagagaCtgtgctggcagatgggcgag	16	11	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144891828C>T	uc003yzp.1	-	14	1598	c.1591G>A	c.(1591-1593)GTC>ATC	p.V531I	SCRIB_uc003yzo.1_Missense_Mutation_p.V531I	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	531	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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTCAGAGACTGTGCTGGCA	0.672													T	144891828	C	T	144891828	3	4	264	1	0	0	0	0	1	0	0	0	13937	565	20	4	3472	4	SCRIB	8	144891828	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	79217	144891828	1472194	788	130306											
PLEC	5339	broad.mit.edu	37	chr8	144995247	144995247	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttgccctggaacttgccGaacggcgcagacacggtggc	14	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144995247G>A	uc003zaf.1	-	32	9323	c.9153C>T	c.(9151-9153)TTC>TTT	p.F3051F	PLEC_uc003zab.1_Silent_p.F2914F|PLEC_uc003zac.1_Silent_p.F2918F|PLEC_uc003zad.2_Silent_p.F2914F|PLEC_uc003zae.1_Silent_p.F2882F|PLEC_uc003zag.1_Silent_p.F2892F|PLEC_uc003zah.2_Silent_p.F2900F|PLEC_uc003zaj.2_Silent_p.F2941F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3051	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGAACTTGCCGAACGGCGCAG	0.622													A	144995247	G	A	144995247	2	1	264	1	0	0	0	0	0	0	0	1	12052	1049	37	1		1	PLEC	8	144995247	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	103419	144995247	1368775	789	130307											
PLEC	5339	broad.mit.edu	37	chr8	144997573	144997573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgccgcagcgtctgcTcggcgaatttcttatgcttc	9	14	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144997573T>C	uc003zaf.1	-	31	7105	c.6935A>G	c.(6934-6936)GAG>GGG	p.E2312G	PLEC_uc003zab.1_Missense_Mutation_p.E2175G|PLEC_uc003zac.1_Missense_Mutation_p.E2179G|PLEC_uc003zad.2_Missense_Mutation_p.E2175G|PLEC_uc003zae.1_Missense_Mutation_p.E2143G|PLEC_uc003zag.1_Missense_Mutation_p.E2153G|PLEC_uc003zah.2_Missense_Mutation_p.E2161G|PLEC_uc003zaj.2_Missense_Mutation_p.E2202G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2312	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CAGCGTCTGCTCGGCGAATTT	0.667													C	144997573	T	C	144997573	3	2	264	1	0	0	0	0	1	0	0	0	12052	1551	54	3	7127	3	PLEC	8	144997573	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2326	144997573	1366449	790	130308											
SPATC1	375686	broad.mit.edu	37	chr8	145095835	145095835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaacccagaacctgcctgTcccccactgtcctccacaca	4	22	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145095835T>C	uc011lkw.1	+	3	1235	c.1133T>C	c.(1132-1134)GTC>GCC	p.V378A	SPATC1_uc011lkx.1_Missense_Mutation_p.V378A	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	378										ovary(1)|central_nervous_system(1)	2	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)			AACCTGCCTGTCCCCCACTGT	0.622													C	145095835	T	C	145095835	3	2	264	1	0	0	0	0	1	0	0	0	15016	1667	58	3	1143	3	SPATC1	8	145095835	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	98262	145095835	1268187	791	130309											
FBXL6	26233	broad.mit.edu	37	chr8	145580025	145580025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgaagatccagtaagCgcaggttgggagagccgtgg	16	9	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145580025C>T	uc003zcb.2	-	7	1185	c.1160G>A	c.(1159-1161)CGC>CAC	p.R387H	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.R114H|FBXL6_uc003zca.2_Missense_Mutation_p.R381H|FBXL6_uc010mfx.2_Missense_Mutation_p.R148H|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	387	LRR 7.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	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)			ATCCAGTAAGCGCAGGTTGGG	0.652													T	145580025	C	T	145580025	3	4	264	1	0	0	0	0	1	0	0	0	5723	768	27	1	471	1	FBXL6	8	145580025	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	484190	145580025	783997	792	130310											
CPSF1	29894	broad.mit.edu	37	chr8	145619907	145619907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgcagtggcacagggcGgtcacgggccccttctgctc	13	15	2	0	rs140031041	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145619907G>A	uc003zcj.2	-	31	3594	c.3519C>T	c.(3517-3519)ACC>ACT	p.T1173T	MIR939_hsa-mir-939|MI0005761_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1173					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			skin(1)	1	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)			GGCACAGGGCGGTCACGGGCC	0.632													A	145619907	G	A	145619907	2	1	264	1	0	0	0	0	0	0	0	1	3824	1103	39	1		1	CPSF1	8	145619907	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	39882	145619907	744115	793	130311											
CPSF1	29894	broad.mit.edu	37	chr8	145620725	145620726	+	Frame_Shift_Del	DEL	AT	AT	-													ctgacaggccatggggcatcAtaggacaggtaggcaggcag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145620724_145620725CAT>C	uc003zcj.3	-	26	3096_3097	c.3021_3022ATG>G	c.(3019-3024)tatgatfs	p.Y1007fs	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1007					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			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)			CATGGGGCATCATAGGACAGGT	0.663													-	145620726	AT	-	145620725	7	5	264	1	0	1	0	1	0	0	0	0	3824	224	8	0	1358	0	CPSF1	8	145620725	Frame_Shift_Del	DEL	AT	TCGA-HU-A4G8-01A-11D-A25D-08	818	145620725	743297	794	130312											
MFSD3	113655	broad.mit.edu	37	chr8	145736246	145736246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacagtcaccttcactgGgatgatgcgctgcagccagc	10	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145736246G>A	uc003zdi.1	+	4	1190	c.1025G>A	c.(1024-1026)GGG>GAG	p.G342E		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	342	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	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)			ACCTTCACTGGGATGATGCGC	0.637													A	145736246	G	A	145736246	3	1	264	1	0	0	0	0	1	0	0	0	9532	1232	43	4	1039	4	MFSD3	8	145736246	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	115521	145736246	627776	795	130313											
ZNF517	340385	broad.mit.edu	37	chr8	146033518	146033518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgcggcaaggccttcgGtcgcaagtccaacctcactc	12	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:146033518G>A	uc003zed.1	+	5	1324	c.1217G>A	c.(1216-1218)GGT>GAT	p.G406D	ZNF517_uc010mgd.1_Missense_Mutation_p.G312D|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.G312D|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	406	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			AAGGCCTTCGGTCGCAAGTCC	0.647													A	146033518	G	A	146033518	3	1	264	1	0	0	0	0	1	0	0	0	17958	1261	44	4	1231	4	ZNF517	8	146033518	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	297272	146033518	330504	796	130314											
FOXD4	2298	broad.mit.edu	37	chr9	118118	118118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagctcttggcaagttcAtggcggagcaggtgcttcag	14	10	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:118118A>G	uc003zfz.2	-	1	300	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	1					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			skin(1)	1	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)		TGGCAAGTTCATGGCGGAGCA	0.637													G	118118	A	G	118118	3	3	264	1	0	0	0	0	1	0	0	0	5999	217	8	3	1321	3	FOXD4	9	118118	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08		118118	141095313	797	130315											
DOCK8	81704	broad.mit.edu	37	chr9	312086	312086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcagcaagtgagtgccgagGactttgagaagcagaacgag	15	7	0	3	rs146903530		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:312086G>T	uc003zgf.2	+	6	773	c.661G>T	c.(661-663)GAC>TAC	p.D221Y	DOCK8_uc011lls.1_Missense_Mutation_p.D221Y|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.D153Y|DOCK8_uc010mgt.2_Missense_Mutation_p.D153Y|DOCK8_uc003zgg.2_Missense_Mutation_p.D153Y|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	221					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		GAGTGCCGAGGACTTTGAGAA	0.592													T	312086	G	T	312086	3	4	264	1	0	0	0	0	1	0	0	0	4693	1174	41	5	683	5	DOCK8	9	312086	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	193968	312086	140901345	798	130316											
DMRT3	58524	broad.mit.edu	37	chr9	977277	977277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccccgactcgctgcgCgctctgccagggcccccgcc	10	22	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:977277C>T	uc003zgw.1	+	1	314	c.276C>T	c.(274-276)CGC>CGT	p.R92R		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	92					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ACTCGCTGCGCGCTCTGCCAG	0.388													T	977277	C	T	977277	2	4	264	1	0	0	0	0	0	0	0	1	4587	755	27	1		1	DMRT3	9	977277	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	665191	977277	140236154	799	130317											
SMARCA2	6595	broad.mit.edu	37	chr9	2088615	2088615	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccagcttcccgaaaaagTatgttgcacaaccaaaagtt	6	11	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:2088615T>C	uc003zhc.2	+	19	2982	c.2883_splice	c.e19+2	p.K961_splice	SMARCA2_uc003zhd.2_Splice_Site_p.K961_splice|SMARCA2_uc010mha.2_Splice_Site_p.K894_splice	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated						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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCCGAAAAAGTATGTTGCACA	0.368													C	2088615	T	C	2088615	5	2	264	1	0	0	0	0	0	0	1	0	14769	1652	57	3	2955	3	SMARCA2	9	2088615	Splice_Site	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1111338	2088615	139124816	800	130318											
PPAPDC2	403313	broad.mit.edu	37	chr9	4662417	4662417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagggacggccgctgggCgtctccgcttcgagcagcag	17	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:4662417C>T	uc003zin.2	+	1	120	c.42C>T	c.(40-42)GGC>GGT	p.G14G	C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain	14						integral to membrane	hydrolase activity				0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGCCGCTGGGCGTCTCCGCTT	0.726											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4662417	C	T	4662417	2	4	264	1	0	0	0	0	0	0	0	1	12295	755	27	1		1	PPAPDC2	9	4662417	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2573802	4662417	136551014	801	130319											
GLDC	2731	broad.mit.edu	37	chr9	6554674	6554674	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcccagaacttacactccGatgggccccatgccaggacc	9	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:6554674G>A	uc003zkc.2	-	19	2503	c.2310C>T	c.(2308-2310)ATC>ATT	p.I770I		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	770					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTTACACTCCGATGGGCCCCA	0.527													A	6554674	G	A	6554674	2	1	264	1	0	0	0	0	0	0	0	1	6433	1048	37	1		1	GLDC	9	6554674	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1892257	6554674	134658757	802	130320											
NFIB	4781	broad.mit.edu	37	chr9	14307161	14307161	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaccatgactagatccAgacgccagactttgtctgcc	9	13	2	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:14307161A>C	uc003zle.2	-	2	824	c.389T>G	c.(388-390)CTG>CGG	p.L130R	NFIB_uc003zlf.2_Missense_Mutation_p.L130R|NFIB_uc011lmo.1_Missense_Mutation_p.L130R	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	130	CTF/NF-I.				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				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GACTAGATCCAGACGCCAGAC	0.517			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								C	14307161	A	C	14307161	3	2	264	1	0	0	0	0	1	0	0	0	10371	188	7	5	905	5	NFIB	9	14307161	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	7752487	14307161	126906270	803	130321											
C9orf93	203238	broad.mit.edu	37	chr9	15779035	15779035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgctgcagaagtggagCgccgctcactacgcttagag	13	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:15779035C>T	uc003zmd.2	+	20	3283	c.2968C>T	c.(2968-2970)CGC>TGC	p.R990C	C9orf93_uc003zme.2_Missense_Mutation_p.R905C|C9orf93_uc011lmu.1_Missense_Mutation_p.R998C|C9orf93_uc003zmf.1_Missense_Mutation_p.R298C	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	990	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AGAAGTGGAGCGCCGCTCACT	0.408													T	15779035	C	T	15779035	3	4	264	1	0	0	0	0	1	0	0	0	2506	768	27	1	3042	1	C9orf93	9	15779035	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1471874	15779035	125434396	804	130322											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18817125	18817125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagccactagtgaaaaCgtcacgaatgacagtgatca	10	8	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:18817125C>T	uc003zne.3	+	21	3951	c.3824C>T	c.(3823-3825)ACG>ATG	p.T1275M		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1275						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CTAGTGAAAACGTCACGAATG	0.448													T	18817125	C	T	18817125	3	4	264	1	0	0	0	0	1	0	0	0	274	536	19	1	3910	1	ADAMTSL1	9	18817125	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3038090	18817125	122396306	805	130323											
DENND4C	55667	broad.mit.edu	37	chr9	19316781	19316781	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaacatatctcagaccaaTcacagaggctccttcaaata	5	11	3	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:19316781T>C	uc003znq.2	+	8	1076	c.1043T>C	c.(1042-1044)ATC>ACC	p.I348T	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	348	dDENN.					integral to membrane				ovary(1)|skin(1)	2						CTCAGACCAATCACAGAGGCT	0.388													C	19316781	T	C	19316781	3	2	264	1	0	0	0	0	1	0	0	0	4435	1435	50	3	1073	3	DENND4C	9	19316781	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	499656	19316781	121896650	806	130324											
CDKN2A	1029	broad.mit.edu	37	chr9	21971089	21971090	+	Frame_Shift_Ins	INS	-	-	A													caccaccagcgtgtccaggaINSagccctcccgggcagcgtcg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:21971088_21971089G>GA	uc003zpk.3	-	1	575_576	c.269_270C>TC	c.(268-270)ttcfs	p.F90fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.F90fs|CDKN2A_uc003zpl.3_Frame_Shift_Ins_p.L104fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	90					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.G89S(4)|p.D84_F90del(2)|p.F90L(2)|p.E61_L94del(2)|p.H83fs*2(2)|p.F90F(2)|p.0(1)|p.V82_G89>G(1)|p.G89V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)|p.G89G(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)		GCGTGTCCAGGAAGCCCTCCCG	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			A	21971090	-	A	21971089	7	5	264	1	0	1	1	0	0	0	0	0	3161	246	9	0	209	0	CDKN2A	9	21971089	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	2654308	21971089	119242342	807	130325											
CDKN2A	1029	broad.mit.edu	37	chr9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaccctctacccacctGgatcggcctccgaccgtaac	8	18	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:21974679G>A	uc003zpk.2	-	1	360	c.148C>T	c.(148-150)CAG>TAG	p.Q50*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	50	ANK 2.		Q -> R (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 binding|protein kinase binding	p.0?(1112)|p.?(25)|p.Q50*(5)|p.Q50R(1)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		CTACCCACCTGGATCGGCCTC	0.682		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			A	21974679	G	A	21974679	4	1	264	1	0	0	0	0	0	1	0	0	3161	1357	47	4	535	4	CDKN2A	9	21974679	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3590	21974679	119238752	808	130326											
C9orf11	54586	broad.mit.edu	37	chr9	27296739	27296739	+	Splice_Site	DEL	A	A	-													gtagcacattaggcaatgctAaaaaaaagtatcacacacca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323													-	27296739	A	-	27296739	8	5	264	1	0	1	0	1	0	0	1	0	2448	377	13	0		0	C9orf11	9	27296739	Splice_Site	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	5322060	27296739	113916692	809	130327											
TAF1L	138474	broad.mit.edu	37	chr9	32633058	32633058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattcgtatcctccgtggCcgatctttactcttccagaa	6	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:32633058C>T	uc003zrg.1	-	1	2610	c.2520G>A	c.(2518-2520)CGG>CGA	p.R840R	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	840					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTCCGTGGCCGATCTTTAC	0.448													T	32633058	C	T	32633058	2	4	264	1	0	0	0	0	0	0	0	1	15520	726	26	2		2	TAF1L	9	32633058	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5336319	32633058	108580373	810	130328											
TAF1L	138474	broad.mit.edu	37	chr9	32633584	32633585	+	Frame_Shift_Ins	INS	-	-	T													ttgttctctcatcttggcctINStttttttgatgtgctttagc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:32633583_32633584C>CT	uc003zrg.1	-	0	2084_2085	c.1994_1995G>AG	c.(1993-1995)aagfs	p.K665fs	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	665					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|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.K665fs*4(4)		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)		TCATCTTGGCCTTTTTTTTGAT	0.48													T	32633585	-	T	32633584	7	5	264	1	0	1	1	0	0	0	0	0	15520	1609	56	0	3490	0	TAF1L	9	32633584	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	526	32633584	108579847	811	130329											
UBAP1	51271	broad.mit.edu	37	chr9	34241785	34241785	+	Frame_Shift_Del	DEL	C	C	-													ctgtcttccaaagtgtccctCccccctatacctgcagtaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:34241784_34241784TC>T	uc022bfy.1	+	4	1159	c.761_761TC>T	c.(760-762)ctcfs	p.L254fs	UBAP1_uc010mka.2_Frame_Shift_Del_p.L290fs|UBAP1_uc003zty.3_Frame_Shift_Del_p.L254fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.L254fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.L254fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.L318fs|UBAP1_uc011loi.2_Frame_Shift_Del_p.L290fs|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.L254fs	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	254						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAAGTGTCCCTCCCCCCTATA	0.463													-	34241785	C	-	34241785	7	5	264	1	0	1	0	1	0	0	0	0	16833	842	30	0	1009	0	UBAP1	9	34241785	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1608201	34241785	106971646	812	130330											
NUDT2	318	broad.mit.edu	37	chr9	34343338	34343338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagcaccaagcctaccGctggctggggctggaggagg	16	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:34343338G>A	uc003zub.2	+	5	702	c.344G>A	c.(343-345)CGC>CAC	p.R115H	NUDT2_uc003zuc.2_Missense_Mutation_p.R115H|NUDT2_uc003zud.2_Missense_Mutation_p.R115H	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	115	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGCCTACCGCTGGCTGGGG	0.562													A	34343338	G	A	34343338	3	1	264	1	0	0	0	0	1	0	0	0	10737	1087	38	1	350	1	NUDT2	9	34343338	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	101553	34343338	106870093	813	130331											
KIAA1161	57462	broad.mit.edu	37	chr9	34371158	34371158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacttccgcgtcgtagCgccagggcgggatagagaac	13	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:34371158C>T	uc003zue.3	-	3	1951	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	595	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGCGTCGTAGCGCCAGGGCGG	0.682													T	34371158	C	T	34371158	3	4	264	1	0	0	0	0	1	0	0	0	8211	768	27	1	364	1	KIAA1161	9	34371158	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	27820	34371158	106842273	814	130332											
VCP	7415	broad.mit.edu	37	chr9	35059577	35059577	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtagatgagctgatcAagacggccaggtctgaggat	16	6	2	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35059577A>G	uc003zvy.2	-	14	2306	c.1917T>C	c.(1915-1917)CTT>CTC	p.L639L	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.L308L|VCP_uc010mki.1_Silent_p.L594L	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	639					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			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGAGCTGATCAAGACGGCCAG	0.512													G	35059577	A	G	35059577	2	3	264	1	0	0	0	0	0	0	0	1	17137	117	5	3		3	VCP	9	35059577	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	688419	35059577	106153854	815	130333											
STOML2	30968	broad.mit.edu	37	chr9	35102160	35102160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactctgcacatatcggatcCggtctaacacagggatgagg	12	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35102160C>T	uc003zwi.2	-	3	278	c.215G>A	c.(214-216)CGG>CAG	p.R72Q	STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.R72Q|STOML2_uc003zwk.2_Missense_Mutation_p.R21Q	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	72						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATATCGGATCCGGTCTAACAC	0.532													T	35102160	C	T	35102160	3	4	264	1	0	0	0	0	1	0	0	0	15313	652	23	1	887	1	STOML2	9	35102160	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	42583	35102160	106111271	816	130334											
RUSC2	9853	broad.mit.edu	37	chr9	35547399	35547399	+	Frame_Shift_Del	DEL	C	C	-													ctacaacaagatgcatggcaCcccccgtgccaatctcaact							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35547399delC	uc003zww.2	+	2	1136	c.881delC	c.(880-882)ACCfs	p.T294fs	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Frame_Shift_Del_p.T294fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	294						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ATGCATGGCACCCCCCGTGCC	0.587													-	35547399	C	-	35547399	7	5	264	1	0	1	0	1	0	0	0	0	13751	507	18	0	883	0	RUSC2	9	35547399	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	445239	35547399	105666032	817	130335											
CD72	971	broad.mit.edu	37	chr9	35616088	35616088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtagctgcccttcggcCgcctgatgagccctctgttc	11	16	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35616088C>T	uc003zxb.2	-	5	664	c.540G>A	c.(538-540)GCG>GCA	p.A180A	CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Silent_p.A180A|CD72_uc010mkv.2_3'UTR|CD72_uc010mkw.1_RNA	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	180	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCTTCGGCCGCCTGATGAG	0.597													T	35616088	C	T	35616088	2	4	264	1	0	0	0	0	0	0	0	1	3034	639	23	1		1	CD72	9	35616088	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	68689	35616088	105597343	818	130336											
TLN1	7094	broad.mit.edu	37	chr9	35719120	35719120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttctgacactgctcccGcaaggccctttgctgcctgc	10	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35719120G>A	uc003zxt.2	-	16	2201	c.1847C>T	c.(1846-1848)GCG>GTG	p.A616V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	616					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACTGCTCCCGCAAGGCCCTT	0.637													A	35719120	G	A	35719120	3	1	264	1	0	0	0	0	1	0	0	0	15944	1087	38	1	5946	1	TLN1	9	35719120	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	103032	35719120	105494311	819	130337											
GNE	10020	broad.mit.edu	37	chr9	36246258	36246258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccttcaatgtgaaggattCggatgttcatcaaggcagca	10	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:36246258C>T	uc010mlh.2	-	3	601	c.386G>A	c.(385-387)CGA>CAA	p.R129Q	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R129Q|GNE_uc011lpl.1_Missense_Mutation_p.R70Q|GNE_uc010mli.2_Missense_Mutation_p.R160Q|GNE_uc010mlj.2_Missense_Mutation_p.R124Q	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	129	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			GTGAAGGATTCGGATGTTCAT	0.488													T	36246258	C	T	36246258	3	4	264	1	0	0	0	0	1	0	0	0	6522	884	31	1	1822	1	GNE	9	36246258	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	527138	36246258	104967173	820	130338											
SHB	6461	broad.mit.edu	37	chr9	38016116	38016116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagggatctgagtagtcatCggctatggtcacctgcaggg	14	8	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:38016116C>T	uc004aax.2	-	2	1298	c.730G>A	c.(730-732)GAT>AAT	p.D244N		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	244	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)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GAGTAGTCATCGGCTATGGTC	0.512													T	38016116	C	T	38016116	3	4	264	1	0	0	0	0	1	0	0	0	14268	884	31	1	819	1	SHB	9	38016116	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1769858	38016116	103197315	821	130339											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	12	3	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					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			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443													T	70993121	C	T	70993121	4	4	264	1	0	0	0	0	0	1	0	0	11801	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	32977005	70993121	70220310	822	130340											
APBA1	320	broad.mit.edu	37	chr9	72131493	72131493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgtagagccgcaggcCgtcgcgtgcgtccagctcgg	15	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:72131493C>T	uc004ahh.2	-	2	910	c.634G>A	c.(634-636)GGC>AGC	p.G212S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	212					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						AGCCGCAGGCCGTCGCGTGCG	0.716													T	72131493	C	T	72131493	3	4	264	1	0	0	0	0	1	0	0	0	756	652	23	1	1927	1	APBA1	9	72131493	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1138372	72131493	69081938	823	130341											
APBA1	320	broad.mit.edu	37	chr9	72131519	72131519	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtccagctcgggcgcgTcccctatctcctcgtacacg	11	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:72131519T>A	uc004ahh.2	-	2	884	c.608A>T	c.(607-609)GAC>GTC	p.D203V		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	203					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CTCGGGCGCGTCCCCTATCTC	0.721													A	72131519	T	A	72131519	3	1	264	1	0	0	0	0	1	0	0	0	756	1667	58	5	1953	5	APBA1	9	72131519	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	26	72131519	69081912	824	130342											
FOXB2	442425	broad.mit.edu	37	chr9	79635658	79635658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcctgcctgccatgcCggtgcccatcaagcccacgc	10	19	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:79635658C>T	uc004ako.1	+	1	1088	c.1088C>T	c.(1087-1089)CCG>CTG	p.P363L		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	363					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				0						CCTGCCATGCCGGTGCCCATC	0.677													T	79635658	C	T	79635658	3	4	264	1	0	0	0	0	1	0	0	0	5993	652	23	1	1090	1	FOXB2	9	79635658	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7504139	79635658	61577773	825	130343											
CEP78	84131	broad.mit.edu	37	chr9	80858424	80858424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgggctgagagtcttcGctataggagacctgatcttg	12	9	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:80858424G>A	uc004akx.2	+	5	926	c.650G>A	c.(649-651)CGC>CAC	p.R217H	CEP78_uc004aky.3_Missense_Mutation_p.R217H|CEP78_uc010mpp.2_Missense_Mutation_p.R217H|CEP78_uc011lsp.1_Missense_Mutation_p.R130H	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	217					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						GAGAGTCTTCGCTATAGGAGA	0.408													A	80858424	G	A	80858424	3	1	264	1	0	0	0	0	1	0	0	0	3262	1087	38	1	668	1	CEP78	9	80858424	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1222766	80858424	60355007	826	130344											
PSAT1	29968	broad.mit.edu	37	chr9	80942970	80942970	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaacatgtttttcagttgTccagtggagccccaaaatag	8	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:80942970T>C	uc004ala.2	+	8	941	c.873T>C	c.(871-873)TGT>TGC	p.C291C	PSAT1_uc004alb.2_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	291					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTTTCAGTTGTCCAGTGGAGC	0.348													C	80942970	T	C	80942970	2	2	264	1	0	0	0	0	0	0	0	1	12644	1673	58	3		3	PSAT1	9	80942970	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	84546	80942970	60270461	827	130345											
KIF27	55582	broad.mit.edu	37	chr9	86495292	86495292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgtagttttctttgtaGctgtatcttttgatatttca	6	6	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:86495292G>T	uc004ana.2	-	11	2707	c.2563C>A	c.(2563-2565)CTA>ATA	p.L855I	KIF27_uc010mpw.2_Intron|KIF27_uc010mpx.2_Missense_Mutation_p.L855I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	855	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TTTCTTTGTAGCTGTATCTTT	0.358													T	86495292	G	T	86495292	3	4	264	1	0	0	0	0	1	0	0	0	8296	962	34	5	1674	5	KIF27	9	86495292	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5552322	86495292	54718139	828	130346											
KIF27	55582	broad.mit.edu	37	chr9	86506302	86506302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctttcagggatcctggCatctggcccatctccacaat	7	15	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:86506302C>T	uc004ana.2	-	6	1861	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	KIF27_uc010mpw.2_Missense_Mutation_p.A573T|KIF27_uc010mpx.2_Missense_Mutation_p.A573T	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	573					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GGGATCCTGGCATCTGGCCCA	0.398													T	86506302	C	T	86506302	3	4	264	1	0	0	0	0	1	0	0	0	8296	710	25	2	2540	2	KIF27	9	86506302	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	11010	86506302	54707129	829	130347											
C9orf79	286234	broad.mit.edu	37	chr9	90499521	90499521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttgcagaatcctccTgagggagctggaggagactc	13	11	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:90499521T>C	uc004app.3	+	3	415	c.380T>C	c.(379-381)CTG>CCG	p.L127P	C9orf79_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	127						integral to membrane				ovary(3)	3						AGAATCCTCCTGAGGGAGCTG	0.572													C	90499521	T	C	90499521	3	2	264	1	0	0	0	0	1	0	0	0	2497	1580	55	3	390	3	C9orf79	9	90499521	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	3993219	90499521	50713910	830	130348											
ROR2	4920	broad.mit.edu	37	chr9	94495678	94495678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgaactgtgagcactgGtccgacaggtgcgtagacgt	15	9	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:94495678G>A	uc004arj.1	-	6	862	c.663C>T	c.(661-663)GAC>GAT	p.D221D	ROR2_uc004ari.1_Silent_p.D81D|ROR2_uc004ark.2_Silent_p.D221D	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	221	FZ.|Extracellular (Potential).				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GTGAGCACTGGTCCGACAGGT	0.647													A	94495678	G	A	94495678	2	1	264	1	0	0	0	0	0	0	0	1	13527	1252	44	4		4	ROR2	9	94495678	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3996157	94495678	46717753	831	130349											
WNK2	65268	broad.mit.edu	37	chr9	95947742	95947742	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgagcccgaagaggaggaGgacgacgaggacgacctcaa	16	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:95947742G>C	uc004ati.1	+	1	531	c.531G>C	c.(529-531)GAG>GAC	p.E177D	WNK2_uc011lud.1_Missense_Mutation_p.E177D|WNK2_uc004atj.2_Missense_Mutation_p.E177D|WNK2_uc010mrc.1_Missense_Mutation_p.E177D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	177					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						AAGAGGAGGAGGACGACGAGG	0.692													C	95947742	G	C	95947742	3	2	264	1	0	0	0	0	1	0	0	0	17375	991	35	5	533	5	WNK2	9	95947742	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1452064	95947742	45265689	832	130350											
WNK2	65268	broad.mit.edu	37	chr9	96055229	96055229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcaggcgtccctgcccGtgagtggcagcgtggctggc	17	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:96055229G>A	uc004ati.1	+	23	5593	c.5593G>A	c.(5593-5595)GTG>ATG	p.V1865M	WNK2_uc011lud.1_Missense_Mutation_p.V1828M|WNK2_uc004atj.2_Missense_Mutation_p.V1828M|WNK2_uc004atk.2_Missense_Mutation_p.V1465M|WNK2_uc004atl.1_Missense_Mutation_p.V422M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1865					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GTCCCTGCCCGTGAGTGGCAG	0.716													A	96055229	G	A	96055229	3	1	264	1	0	0	0	0	1	0	0	0	17375	1145	40	1	5568	1	WNK2	9	96055229	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	107487	96055229	45158202	833	130351											
FAM120A	23196	broad.mit.edu	37	chr9	96291730	96291730	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaatcccgtgcctcctgtcGatgcccaccaggaaccacat	7	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:96291730G>A	uc004atw.2	+	9	1627	c.1602G>A	c.(1600-1602)TCG>TCA	p.S534S	FAM120A_uc004atv.2_Silent_p.S534S|FAM120A_uc004atx.2_Silent_p.S316S|FAM120A_uc004aty.2_Silent_p.S315S|FAM120A_uc004atz.2_Silent_p.S183S|FAM120A_uc010mrf.1_RNA|FAM120A_uc010mrg.2_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	534						cytoplasm|plasma membrane	RNA binding				0						GCCTCCTGTCGATGCCCACCA	0.622													A	96291730	G	A	96291730	2	1	264	1	0	0	0	0	0	0	0	1	5415	1045	37	1		1	FAM120A	9	96291730	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	236501	96291730	44921701	834	130352											
ZNF169	169841	broad.mit.edu	37	chr9	97063084	97063084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagctttcgccaaaaggTcactctcatcaggcaccaga	8	14	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:97063084T>C	uc004aum.1	+	5	1349	c.1244T>C	c.(1243-1245)GTC>GCC	p.V415A		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	415	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				CGCCAAAAGGTCACTCTCATC	0.562													C	97063084	T	C	97063084	3	2	264	1	0	0	0	0	1	0	0	0	17739	1667	58	3	1258	3	ZNF169	9	97063084	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	771354	97063084	44150347	835	130353											
CORO2A	7464	broad.mit.edu	37	chr9	100897159	100897159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccaggcctactctgcGcgcgtggcccacgagttcct	10	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:100897159G>A	uc004ayl.2	-	4	663	c.397C>T	c.(397-399)CGC>TGC	p.R133C	CORO2A_uc004aym.2_Missense_Mutation_p.R133C	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	133	WD 2.				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				CCTACTCTGCGCGCGTGGCCC	0.557													A	100897159	G	A	100897159	3	1	264	1	0	0	0	0	1	0	0	0	3756	1087	38	1	1216	1	CORO2A	9	100897159	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3834075	100897159	40316272	836	130354											
NR4A3	8013	broad.mit.edu	37	chr9	102590573	102590573	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccaaatgcagcggcccttGatcaaagtggaggaggggcg	15	9	1	1	rs137876606	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:102590573G>T	uc004baf.1	+	3	978	c.249G>T	c.(247-249)TTG>TTT	p.L83F	NR4A3_uc004bae.2_Missense_Mutation_p.L83F|NR4A3_uc004bag.1_Missense_Mutation_p.L83F|NR4A3_uc004bai.2_Missense_Mutation_p.L94F	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	83					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCGGCCCTTGATCAAAGTGG	0.473			T	EWSR1	extraskeletal myxoid chondrosarcoma								T	102590573	G	T	102590573	3	4	264	1	0	0	0	0	1	0	0	0	10634	1281	45	5	288	5	NR4A3	9	102590573	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1693414	102590573	38622858	837	130355											
MURC	347273	broad.mit.edu	37	chr9	103348453	103348453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggaagcttttaagatgcGcagcctcaggaaaggtaagg	13	6	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:103348453G>A	uc004bba.2	+	2	905	c.815G>A	c.(814-816)CGC>CAC	p.R272H		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				TTTAAGATGCGCAGCCTCAGG	0.537													A	103348453	G	A	103348453	3	1	264	1	0	0	0	0	1	0	0	0	9987	1087	38	1	821	1	MURC	9	103348453	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	757880	103348453	37864978	838	130356											
ZNF189	7743	broad.mit.edu	37	chr9	104170526	104170526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggaaagggttttgtccGcaaggcccatttcattcaac	10	9	2	0	rs146668775		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:104170526G>A	uc004bbh.1	+	3	752	c.476G>A	c.(475-477)CGC>CAC	p.R159H	ZNF189_uc004bbg.1_Missense_Mutation_p.R117H|ZNF189_uc004bbi.1_Missense_Mutation_p.R145H|ZNF189_uc011lvk.1_Missense_Mutation_p.R144H	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	159	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				GGTTTTGTCCGCAAGGCCCAT	0.383													A	104170526	G	A	104170526	3	1	264	1	0	0	0	0	1	0	0	0	17751	1087	38	1	486	1	ZNF189	9	104170526	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	822073	104170526	37042905	839	130357											
OR13C4	138804	broad.mit.edu	37	chr9	107289337	107289337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcatgtgaagacgagaatCcaagatgcttgctatgatca	12	7	1	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:107289337C>T	uc011lvn.1	-	1	154	c.154G>A	c.(154-156)GAT>AAT	p.D52N		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGACGAGAATCCAAGATGCTT	0.433													T	107289337	C	T	107289337	3	4	264	1	0	0	0	0	1	0	0	0	10936	855	30	4	804	4	OR13C4	9	107289337	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3118811	107289337	33924094	840	130358											
ZNF462	58499	broad.mit.edu	37	chr9	109690191	109690191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgctcctgcattaccaacGgaggcatccagaacactatg	8	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:109690191G>A	uc004bcz.2	+	3	4287	c.3998G>A	c.(3997-3999)CGG>CAG	p.R1333Q	ZNF462_uc010mto.2_Missense_Mutation_p.R1181Q|ZNF462_uc004bda.2_Missense_Mutation_p.R1181Q	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1333					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CATTACCAACGGAGGCATCCA	0.542													A	109690191	G	A	109690191	3	1	264	1	0	0	0	0	1	0	0	0	17923	1116	39	1	4004	1	ZNF462	9	109690191	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2400854	109690191	31523240	841	130359											
ZNF462	58499	broad.mit.edu	37	chr9	109701240	109701240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtgctcattctccaccatGacaatcagccagctgaagga	9	12	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:109701240G>A	uc004bcz.2	+	7	6568	c.6279G>A	c.(6277-6279)ATG>ATA	p.M2093I	ZNF462_uc010mto.2_Missense_Mutation_p.M2002I|ZNF462_uc004bda.2_Missense_Mutation_p.M2001I|ZNF462_uc011lvz.1_Missense_Mutation_p.M50I|ZNF462_uc004bdb.1_Missense_Mutation_p.M1I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2093	C2H2-type 21.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TCTCCACCATGACAATCAGCC	0.532													A	109701240	G	A	109701240	3	1	264	1	0	0	0	0	1	0	0	0	17923	1290	45	4	6301	4	ZNF462	9	109701240	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	11049	109701240	31512191	842	130360											
IKBKAP	8518	broad.mit.edu	37	chr9	111640275	111640275	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctctgagaaaacttacCggggtagctgaattctgctg	11	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:111640275C>A	uc004bdm.3	-	35	4375	c.3855G>T	c.(3853-3855)CCG>CCT	p.P1285P	IKBKAP_uc004bdl.2_Silent_p.P936P|IKBKAP_uc011lwc.1_Silent_p.P1171P|IKBKAP_uc010mtq.2_Silent_p.P936P|IKBKAP_uc004bdk.2_Silent_p.P289P|IKBKAP_uc010mtp.2_RNA	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	1285					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			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						GAAAACTTACCGGGGTAGCTG	0.393													A	111640275	C	A	111640275	2	1	264	1	0	0	0	0	0	0	0	1	7610	666	23	5		5	IKBKAP	9	111640275	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1939035	111640275	29573156	843	130361											
SVEP1	79987	broad.mit.edu	37	chr9	113312184	113312184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaactgtgtagcagGtaacagtgctcctcctttgg	9	10	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:113312184G>A	uc010mtz.2	-	2	1069	c.732C>T	c.(730-732)TAC>TAT	p.Y244Y	SVEP1_uc010mua.1_Silent_p.Y244Y|SVEP1_uc004beu.2_Silent_p.Y244Y|SVEP1_uc004bev.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	244	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGTGTAGCAGGTAACAGTGCT	0.463													A	113312184	G	A	113312184	2	1	264	1	0	0	0	0	0	0	0	1	15417	1256	44	4		4	SVEP1	9	113312184	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1671909	113312184	27901247	844	130362											
ZNF483	158399	broad.mit.edu	37	chr9	114304378	114304378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagattcatttgggggataGgtcccaaaaatgcagtaagt	12	5	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:114304378G>T	uc004bff.2	+	6	1387	c.1163G>T	c.(1162-1164)AGG>ATG	p.R388M	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	388					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						TTGGGGGATAGGTCCCAAAAA	0.403													T	114304378	G	T	114304378	3	4	264	1	0	0	0	0	1	0	0	0	17933	1000	35	5	1181	5	ZNF483	9	114304378	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	992194	114304378	26909053	845	130363											
ZFP37	7539	broad.mit.edu	37	chr9	115818897	115818897	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcgcccggcctctttggtCgtttccgcacttctcctccg	10	17	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:115818897C>T	uc004bgm.1	-	1	100	c.72G>A	c.(70-72)ACG>ACA	p.T24T	ZFP37_uc011lwz.1_Silent_p.T24T|ZFP37_uc011lxa.1_Silent_p.T24T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	24						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCTCTTTGGTCGTTTCCGCAC	0.652													T	115818897	C	T	115818897	2	4	264	1	0	0	0	0	0	0	0	1	17645	871	31	1		1	ZFP37	9	115818897	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1514519	115818897	25394534	846	130364											
FKBP15	23307	broad.mit.edu	37	chr9	115948583	115948583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaaaggccgaacgggctGcagctgggaggtgacggcag	18	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:115948583G>A	uc004bgs.2	-	15	1562	c.1444C>T	c.(1444-1446)CAG>TAG	p.Q482*	FKBP15_uc010muu.1_Nonsense_Mutation_p.Q546*|FKBP15_uc004bgr.2_5'Flank|FKBP15_uc011lxc.1_Nonsense_Mutation_p.Q63*|FKBP15_uc011lxd.1_Nonsense_Mutation_p.Q414*|FKBP15_uc010mut.1_Nonsense_Mutation_p.Q350*	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	482					endocytosis|protein folding	axon|early endosome	actin binding	p.A482A(1)		ovary(3)	3						CGAACGGGCTGCAGCTGGGAG	0.542													A	115948583	G	A	115948583	4	1	264	1	0	0	0	0	0	1	0	0	5905	1328	46	2	2271	2	FKBP15	9	115948583	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	129686	115948583	25264848	847	130365											
FKBP15	23307	broad.mit.edu	37	chr9	115962135	115962135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagccagccggtataggCcacttccaaagaatctccaa	8	12	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:115962135C>T	uc004bgs.2	-	7	725	c.607G>A	c.(607-609)GCC>ACC	p.A203T	FKBP15_uc010muu.1_Missense_Mutation_p.A267T|FKBP15_uc011lxd.1_Missense_Mutation_p.A135T|FKBP15_uc010mut.1_Missense_Mutation_p.A71T|FKBP15_uc004bgt.2_Missense_Mutation_p.A203T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	203	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CCGGTATAGGCCACTTCCAAA	0.498													T	115962135	C	T	115962135	3	4	264	1	0	0	0	0	1	0	0	0	5905	739	26	2	3140	2	FKBP15	9	115962135	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	13552	115962135	25251296	848	130366											
AMBP	259	broad.mit.edu	37	chr9	116835296	116835296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagagtttccctcagctgCggcgcccgccctgcaaggag	14	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:116835296C>T	uc004bie.3	-	5	728	c.465G>A	c.(463-465)CCG>CCA	p.P155P	AMBP_uc011lxk.1_Silent_p.P96P|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	155					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCCTCAGCTGCGGCGCCCGCC	0.572													T	116835296	C	T	116835296	2	4	264	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116835296	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	873161	116835296	24378135	849	130367											
TNC	3371	broad.mit.edu	37	chr9	117827093	117827093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttggcctcctgcaccTgaatgataaagtgctcatag	9	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:117827093T>C	uc004bjj.3	-	11	3682	c.3320A>G	c.(3319-3321)CAG>CGG	p.Q1107R	TNC_uc010mvf.2_Missense_Mutation_p.Q1107R	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1107	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTCCTGCACCTGAATGATAAA	0.602													C	117827093	T	C	117827093	3	2	264	1	0	0	0	0	1	0	0	0	16267	1580	55	3	3357	3	TNC	9	117827093	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	991797	117827093	23386338	850	130368											
PAPPA	5069	broad.mit.edu	37	chr9	118950108	118950108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaacctctatgaagatgAtcataagaacccgacggtga	10	9	3	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:118950108A>G	uc004bjn.2	+	2	1472	c.1091A>G	c.(1090-1092)GAT>GGT	p.D364G	PAPPA_uc011lxp.1_Missense_Mutation_p.D157G|PAPPA_uc011lxq.1_Missense_Mutation_p.D157G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	364	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TATGAAGATGATCATAAGAAC	0.552													G	118950108	A	G	118950108	3	3	264	1	0	0	0	0	1	0	0	0	11432	333	12	3	1097	3	PAPPA	9	118950108	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1123015	118950108	22263323	851	130369											
DBC1	1620	broad.mit.edu	37	chr9	121930156	121930156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtggacgtagaggcGtgagtccatcttctgcagca	16	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:121930156G>A	uc004bkc.2	-	8	1948	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	498					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						ACGTAGAGGCGTGAGTCCATC	0.572													A	121930156	G	A	121930156	3	1	264	1	0	0	0	0	1	0	0	0	4247	1145	40	1	797	1	DBC1	9	121930156	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2980048	121930156	19283275	852	130370											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123298792	123298792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttccagttctgcctgggCggctgtcacatcctagagtc	10	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:123298792C>T	uc004bkf.2	-	7	701	c.520G>A	c.(520-522)GCC>ACC	p.A174T	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.A174T|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.A174T|CDK5RAP2_uc004bki.2_5'UTR	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	174					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						TCTGCCTGGGCGGCTGTCACA	0.398													T	123298792	C	T	123298792	3	4	264	1	0	0	0	0	1	0	0	0	3146	768	27	1	5289	1	CDK5RAP2	9	123298792	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1368636	123298792	17914639	853	130371											
OR1N1	138883	broad.mit.edu	37	chr9	125288680	125288680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gactgaagagcctctttaggGcccccttcatgtccttgttc	9	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:125288680G>C	uc004bmn.1	-	1	893	c.893C>G	c.(892-894)GCC>GGC	p.A298G		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						CCTCTTTAGGGCCCCCTTCAT	0.348													C	125288680	G	C	125288680	3	2	264	1	0	0	0	0	1	0	0	0	10969	1203	42	5	46	5	OR1N1	9	125288680	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1989888	125288680	15924751	854	130372											
OR1K1	392392	broad.mit.edu	37	chr9	125563254	125563254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacactgtagtcacccccAtgctgaaccccatcatctac	5	16	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:125563254A>G	uc011lze.1	+	1	853	c.853A>G	c.(853-855)ATG>GTG	p.M285V		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGTCACCCCCATGCTGAACCC	0.577													G	125563254	A	G	125563254	3	3	264	1	0	0	0	0	1	0	0	0	10962	217	8	3	855	3	OR1K1	9	125563254	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	274574	125563254	15650177	855	130373											
SCAI	286205	broad.mit.edu	37	chr9	127764275	127764275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgacctgtggggaaaacGccagtggccgacaggtaaat	14	9	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:127764275G>A	uc004bpe.2	-	12	1194	c.1113C>T	c.(1111-1113)GGC>GGT	p.G371G	SCAI_uc004bpd.2_Silent_p.G394G|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	371					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			ovary(2)|breast(2)|central_nervous_system(1)	5						TGGGGAAAACGCCAGTGGCCG	0.433													A	127764275	G	A	127764275	2	1	264	1	0	0	0	0	0	0	0	1	13869	1074	38	1		1	SCAI	9	127764275	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2201021	127764275	13449156	856	130374											
FAM125B	89853	broad.mit.edu	37	chr9	129184183	129184183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggcaggaacagcacccGgacggactacgagtaccagc	13	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:129184183G>A	uc004bqh.1	+	7	794	c.713G>A	c.(712-714)CGG>CAG	p.R238Q	FAM125B_uc011lzy.1_Missense_Mutation_p.R223Q|FAM125B_uc010mxd.2_Missense_Mutation_p.R231Q	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	238					protein transport	late endosome membrane					0						AACAGCACCCGGACGGACTAC	0.562													A	129184183	G	A	129184183	3	1	264	1	0	0	0	0	1	0	0	0	5428	1116	39	1	743	1	FAM125B	9	129184183	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1419908	129184183	12029248	857	130375											
ZBTB34	403341	broad.mit.edu	37	chr9	129641782	129641783	+	Frame_Shift_Del	DEL	TA	TA	-													actccgcctgcaggggaaacTatgtgacatcattgtacaca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:129641781_129641782CTA>C	uc022bnn.1	+	0	91_92	c.91_92CTA>C	c.(91-93)ctafs	p.L31fs	ZBTB34_uc004bqm.4_Frame_Shift_Del_p.L31fs	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	31					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						GCAGGGGAAACTATGTGACATC	0.51													-	129641783	TA	-	129641782	7	5	264	1	0	1	0	1	0	0	0	0	17534	1522	53	0	94	0	ZBTB34	9	129641782	Frame_Shift_Del	DEL	TA	TCGA-HU-A4G8-01A-11D-A25D-08	457599	129641782	11571649	858	130376											
FAM129B	64855	broad.mit.edu	37	chr9	130271341	130271341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgtccagtcgcagcgActccatcttctcatagcagc	8	17	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:130271341A>G	uc004brh.2	-	10	1433	c.1231T>C	c.(1231-1233)TCG>CCG	p.S411P	FAM129B_uc004bri.2_Missense_Mutation_p.S398P|FAM129B_uc004brj.3_Missense_Mutation_p.S411P	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	411							protein binding				0						AGTCGCAGCGACTCCATCTTC	0.637													G	130271341	A	G	130271341	3	3	264	1	0	0	0	0	1	0	0	0	5437	275	10	3	1029	3	FAM129B	9	130271341	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	629559	130271341	10942090	859	130377											
SH2D3C	10044	broad.mit.edu	37	chr9	130506877	130506877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgacatgccgggccagcGtccgggcatccacttctgcc	13	15	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:130506877G>A	uc004bsc.2	-	7	1908	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M	SH2D3C_uc010mxo.2_Missense_Mutation_p.T429M|SH2D3C_uc004bry.2_Missense_Mutation_p.T431M|SH2D3C_uc004brz.3_Missense_Mutation_p.T235M|SH2D3C_uc011mak.1_Missense_Mutation_p.T235M|SH2D3C_uc004bsa.2_Missense_Mutation_p.T432M|SH2D3C_uc004bsb.2_Missense_Mutation_p.T521M	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	589	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						CCGGGCCAGCGTCCGGGCATC	0.632													A	130506877	G	A	130506877	3	1	264	1	0	0	0	0	1	0	0	0	14234	1145	40	1	840	1	SH2D3C	9	130506877	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	235536	130506877	10706554	860	130378											
SLC27A4	10999	broad.mit.edu	37	chr9	131112801	131112801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgtactatggattccGcatgcggcccaacgacatcg	11	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131112801G>A	uc004but.2	+	6	1108	c.824G>A	c.(823-825)CGC>CAC	p.R275H	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	275					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						TATGGATTCCGCATGCGGCCC	0.607													A	131112801	G	A	131112801	3	1	264	1	0	0	0	0	1	0	0	0	14528	1087	38	1	842	1	SLC27A4	9	131112801	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	605924	131112801	10100630	861	130379											
SPTAN1	6709	broad.mit.edu	37	chr9	131388887	131388887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagatcaagagcttccGcgtagcctccaacccctaca	7	18	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131388887G>A	uc004bvl.3	+	48	6595	c.6482G>A	c.(6481-6483)CGC>CAC	p.R2161H	SPTAN1_uc004bvm.3_Missense_Mutation_p.R2166H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R2141H|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2161	Spectrin 22.				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			breast(5)|ovary(4)|pancreas(1)	10						AAGAGCTTCCGCGTAGCCTCC	0.617													A	131388887	G	A	131388887	3	1	264	1	0	0	0	0	1	0	0	0	15116	1087	38	1	6687	1	SPTAN1	9	131388887	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	276086	131388887	9824544	862	130380											
ZDHHC12	84885	broad.mit.edu	37	chr9	131483570	131483570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgcgggtcaggcctcggtCgaaggggttgctggggcgct	20	9	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131483570C>T	uc004bvy.2	-	5	730	c.694G>A	c.(694-696)GAC>AAC	p.D232N	ZDHHC12_uc004bvz.2_Missense_Mutation_p.D287N	NM_032799	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC domain containing 12	232						integral to membrane	acyltransferase activity|zinc ion binding				0						AGGCCTCGGTCGAAGGGGTTG	0.652													T	131483570	C	T	131483570	3	4	264	1	0	0	0	0	1	0	0	0	17599	884	31	1	113	1	ZDHHC12	9	131483570	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	94683	131483570	9729861	863	130381											
ZER1	10444	broad.mit.edu	37	chr9	131515105	131515105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgtagtagctggagaggCggtctcgggagatgtccagg	17	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131515105C>T	uc004bwa.1	-	5	1203	c.770G>A	c.(769-771)CGC>CAC	p.R257H		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	257	LRR 2.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GCTGGAGAGGCGGTCTCGGGA	0.577													T	131515105	C	T	131515105	3	4	264	1	0	0	0	0	1	0	0	0	17622	768	27	1	1578	1	ZER1	9	131515105	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	31535	131515105	9698326	864	130382											
NUP188	23511	broad.mit.edu	37	chr9	131733236	131733236	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccagtgggggaaatgAtgtgagtttaaggctctggg	16	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131733236A>T	uc004bws.1	+	11	1134	c.1112A>T	c.(1111-1113)GAT>GTT	p.D371V		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	371					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GGGGGAAATGATGTGAGTTTA	0.483													T	131733236	A	T	131733236	3	4	264	1	0	0	0	0	1	0	0	0	10758	347	12	5	1154	5	NUP188	9	131733236	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	218131	131733236	9480195	865	130383											
SH3GLB2	56904	broad.mit.edu	37	chr9	131771467	131771467	+	Frame_Shift_Del	DEL	G	G	-													ctttgcgggtcccactggcaGggggggccacctcttccagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131771467delG	uc004bwv.2	-	10	1144	c.998delC	c.(997-999)CCTfs	p.P333fs	SH3GLB2_uc004bww.2_Frame_Shift_Del_p.P342fs|SH3GLB2_uc004bwx.1_Frame_Shift_Del_p.P333fs|SH3GLB2_uc011mbm.1_Frame_Shift_Del_p.P342fs	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	333					filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						CCCACTGGCAGGGGGGGCCAC	0.692													-	131771467	G	-	131771467	7	5	264	1	0	1	0	1	0	0	0	0	14254	1000	35	0	197	0	SH3GLB2	9	131771467	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	38231	131771467	9441964	866	130384											
CRAT	1384	broad.mit.edu	37	chr9	131862842	131862842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgagcctgctgccgcccCcatgcagcatctggcctgcc	11	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131862842C>A	uc004bxh.2	-	7	1214	c.932G>T	c.(931-933)GGG>GTG	p.G311V	CRAT_uc004bxg.2_Missense_Mutation_p.G290V|CRAT_uc004bxk.3_Missense_Mutation_p.G290V	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	311					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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCTGCCGCCCCCATGCAGCAT	0.627													A	131862842	C	A	131862842	3	1	264	1	0	0	0	0	1	0	0	0	3847	623	22	5	980	5	CRAT	9	131862842	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	91375	131862842	9350589	867	130385											
ASS1	445	broad.mit.edu	37	chr9	133329755	133329755	+	Frame_Shift_Del	DEL	A	A	-													aggcactgaagcttggggccAaaaaggtaccaggcgggagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:133329754_133329754CA>C	uc010mza.3	+	3	904	c.396_396CA>C	c.(394-396)gccfs	p.A132fs	ASS1_uc004bzm.3_Frame_Shift_Del_p.A56fs|ASS1_uc004bzn.3_Frame_Shift_Del_p.A56fs	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	56					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|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)	AGCTTGGGGCCAAAAAGGTAC	0.622													-	133329755	A	-	133329755	7	5	264	1	0	1	0	1	0	0	0	0	1061	131	5	0	175	0	ASS1	9	133329755	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1466913	133329755	7883676	868	130386											
PRDM12	59335	broad.mit.edu	37	chr9	133542071	133542071	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccatccctggcgagggcctCggcatcttctccaagacgtg	11	15	2	1	rs143960255		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:133542071C>A	uc004bzt.1	+	2	360	c.300C>A	c.(298-300)CTC>CTA	p.L100L		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	100	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCGAGGGCCTCGGCATCTTCT	0.642													A	133542071	C	A	133542071	2	1	264	1	0	0	0	0	0	0	0	1	12453	871	31	5		5	PRDM12	9	133542071	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	212316	133542071	7671360	869	130387											
LAMC3	10319	broad.mit.edu	37	chr9	133932467	133932467	+	Frame_Shift_Del	DEL	G	G	-													tacaagagggagatgccacaGgggggtccctatgccagctg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:133932466_133932466AG>A	uc004caa.1	+	11	2188	c.2090_2090AG>A	c.(2089-2091)cagfs	p.Q697fs		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	697	Laminin EGF-like 5; second part.				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)		GAGATGCCACAGGGGGGTCCC	0.612													-	133932467	G	-	133932467	7	5	264	1	0	1	0	1	0	0	0	0	8616	991	35	0	2137	0	LAMC3	9	133932467	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	390396	133932467	7280964	870	130388											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165403	134165403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccagcttcccagagcCgggcccgtgcccgggaccgc	13	19	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134165403C>T	uc004cal.2	+	1	323	c.19C>T	c.(19-21)CGG>TGG	p.R7W		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	7	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TTCCCAGAGCCGGGCCCGTGC	0.706													T	134165403	C	T	134165403	3	4	264	1	0	0	0	0	1	0	0	0	12296	643	23	1	21	1	PPAPDC3	9	134165403	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	232936	134165403	7048028	871	130389											
BAT2L1	84726	broad.mit.edu	37	chr9	134321811	134321811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaagctggagggagggcGgtgggcgacacataatttct	16	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134321811G>A	uc004can.3	+	6	692	c.637G>A	c.(637-639)GGT>AGT	p.G213S	BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Missense_Mutation_p.G213S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	213							protein binding				0						GAGGGAGGGCGGTGGGCGACA	0.582													A	134321811	G	A	134321811	3	1	264	1	0	0	0	0	1	0	0	0	1320	1116	39	1	659	1	BAT2L1	9	134321811	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	156408	134321811	6891620	872	130390											
BAT2L1	84726	broad.mit.edu	37	chr9	134350981	134350981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagaggggctccgagaaCgggaatgaaggctcgctcct	16	11	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134350981C>T	uc004can.3	+	15	3520	c.3465C>T	c.(3463-3465)AAC>AAT	p.N1155N	BAT2L1_uc010mzj.1_Silent_p.N738N|BAT2L1_uc004cao.3_Silent_p.N513N	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1155							protein binding				0						GCTCCGAGAACGGGAATGAAG	0.612													T	134350981	C	T	134350981	2	4	264	1	0	0	0	0	0	0	0	1	1320	535	19	1		1	BAT2L1	9	134350981	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	29170	134350981	6862450	873	130391											
BAT2L1	84726	broad.mit.edu	37	chr9	134354732	134354732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcaaggtgacgtgaccGtgcctggcagcagcctgggc	17	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134354732G>A	uc004can.3	+	18	4907	c.4852G>A	c.(4852-4854)GTG>ATG	p.V1618M	BAT2L1_uc004cao.3_Missense_Mutation_p.V976M	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1618							protein binding				0						TGACGTGACCGTGCCTGGCAG	0.577													A	134354732	G	A	134354732	3	1	264	1	0	0	0	0	1	0	0	0	1320	1145	40	1	4922	1	BAT2L1	9	134354732	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3751	134354732	6858699	874	130392											
POMT1	10585	broad.mit.edu	37	chr9	134384333	134384333	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcaaggctaatgcttTtggaatcagtgttaatattt	8	6	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134384333T>C	uc004cav.2	+	6	665	c.463T>C	c.(463-465)TTG>CTG	p.L155L	POMT1_uc011mci.1_Intron|POMT1_uc004cax.2_Silent_p.L155L|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Silent_p.L155L|POMT1_uc004caw.2_Silent_p.L101L|POMT1_uc011mck.1_Silent_p.L38L|POMT1_uc011mcl.1_Silent_p.L3L|POMT1_uc011mcm.1_Silent_p.L125L|POMT1_uc011mcn.1_5'Flank	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	155	Helical; (Potential).				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GCTAATGCTTTTGGAATCAGT	0.388													C	134384333	T	C	134384333	2	2	264	1	0	0	0	0	0	0	0	1	12245	1838	64	3		3	POMT1	9	134384333	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	29601	134384333	6829098	875	130393											
GFI1B	8328	broad.mit.edu	37	chr9	135863633	135863633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggggactctccactgtcCgactcacccccattctacaa	7	16	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:135863633C>T	uc004ccg.2	+	4	439	c.288C>T	c.(286-288)TCC>TCT	p.S96S	GFI1B_uc010mzy.2_Silent_p.S96S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	96	Interaction with ARIH2.				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			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CTCCACTGTCCGACTCACCCC	0.592													T	135863633	C	T	135863633	2	4	264	1	0	0	0	0	0	0	0	1	6340	639	23	1		1	GFI1B	9	135863633	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1479300	135863633	5349798	876	130394											
GFI1B	8328	broad.mit.edu	37	chr9	135864465	135864465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcttctccacccctcaCgggctcgaagtgcatgtgcg	11	15	3	0	rs138653823		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:135864465C>T	uc004ccg.2	+	5	679	c.528C>T	c.(526-528)CAC>CAT	p.H176H	GFI1B_uc010mzy.2_Intron	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	176	C2H2-type 1.|Mediates interaction with GATA1.|Interaction with ARIH2.				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			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCACCCCTCACGGGCTCGAAG	0.662													T	135864465	C	T	135864465	2	4	264	1	0	0	0	0	0	0	0	1	6340	535	19	1		1	GFI1B	9	135864465	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	832	135864465	5348966	877	130395											
RPL7A	6130	broad.mit.edu	37	chr9	136217531	136217531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaggcaagactgggacGtctagtccacaggaagacct	14	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:136217531G>A	uc004cde.1	+	6	605	c.575G>A	c.(574-576)CGT>CAT	p.R192H	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Missense_Mutation_p.R16H|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	192					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				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AGACTGGGACGTCTAGTCCAC	0.512													A	136217531	G	A	136217531	3	1	264	1	0	0	0	0	1	0	0	0	13600	1145	40	1	597	1	RPL7A	9	136217531	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	353066	136217531	4995900	878	130396											
VAV2	7410	broad.mit.edu	37	chr9	136653484	136653484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggccccaccttcttgaCgtccttgttgttcatggggt	12	11	2	1	rs150924742		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:136653484C>T	uc004ces.2	-	15	1445	c.1399G>A	c.(1399-1401)GTC>ATC	p.V467I	VAV2_uc004cer.2_Missense_Mutation_p.V462I|VAV2_uc004cet.1_Missense_Mutation_p.V11I	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	467	PH.				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			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACCTTCTTGACGTCCTTGTTG	0.617													T	136653484	C	T	136653484	3	4	264	1	0	0	0	0	1	0	0	0	17129	536	19	1	1301	1	VAV2	9	136653484	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	435953	136653484	4559947	879	130397											
WDR5	11091	broad.mit.edu	37	chr9	137007769	137007769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttcagtttgacgaaagCgtgaggatatgggatgtgaa	15	3	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:137007769C>T	uc004cey.2	+	7	627	c.456C>T	c.(454-456)AGC>AGT	p.S152S	WDR5_uc004cez.2_Silent_p.S152S	NM_017588	NP_060058	P61964	WDR5_HUMAN	WD repeat domain 5	152	WD 3.				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				0		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)		TTGACGAAAGCGTGAGGATAT	0.522													T	137007769	C	T	137007769	2	4	264	1	0	0	0	0	0	0	0	1	17300	767	27	1		1	WDR5	9	137007769	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	354285	137007769	4205662	880	130398											
MRPS2	51116	broad.mit.edu	37	chr9	138395682	138395682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcatcttcctgcacacGctcaacaacatctttgagcc	4	16	5	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:138395682G>A	uc004cfv.3	+	4	668	c.594G>A	c.(592-594)ACG>ACA	p.T198T	MRPS2_uc004cfw.3_Silent_p.T108T|MRPS2_uc004cfx.3_Silent_p.T113T|MRPS2_uc010nat.2_Silent_p.T179T|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	198					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TCCTGCACACGCTCAACAACA	0.617													A	138395682	G	A	138395682	2	1	264	1	0	0	0	0	0	0	0	1	9831	1074	38	1		1	MRPS2	9	138395682	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1387913	138395682	2817749	881	130399											
SOHLH1	402381	broad.mit.edu	37	chr9	138586271	138586271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtcagcaggaaggacGtcccatcgtccacatcagac	10	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:138586271G>A	uc004cgl.2	-	7	969	c.908C>T	c.(907-909)ACG>ATG	p.T303M	SOHLH1_uc010nbe.2_Missense_Mutation_p.T303M	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	303					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CAGGAAGGACGTCCCATCGTC	0.617													A	138586271	G	A	138586271	3	1	264	1	0	0	0	0	1	0	0	0	14923	1145	40	1	304	1	SOHLH1	9	138586271	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	190589	138586271	2627160	882	130400											
SOHLH1	402381	broad.mit.edu	37	chr9	138590922	138590922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggggccttgggcgggcccGagccccgggccgagtcctcg	18	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:138590922G>A	uc004cgl.2	-	2	177	c.116C>T	c.(115-117)TCG>TTG	p.S39L	SOHLH1_uc010nbe.2_Missense_Mutation_p.S39L	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	39					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGGCGGGCCCGAGCCCCGGGC	0.701													A	138590922	G	A	138590922	3	1	264	1	0	0	0	0	1	0	0	0	14923	1059	37	1	1116	1	SOHLH1	9	138590922	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4651	138590922	2622509	883	130401											
SNAPC4	6621	broad.mit.edu	37	chr9	139286540	139286540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttccggatctcctctgCactgcggctgccttcaaact	8	15	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139286540C>T	uc004chh.2	-	9	838	c.829G>A	c.(829-831)GCA>ACA	p.A277T		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	277	Myb-like 1.				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ATCTCCTCTGCACTGCGGCTG	0.637													T	139286540	C	T	139286540	3	4	264	1	0	0	0	0	1	0	0	0	14837	710	25	2	3636	2	SNAPC4	9	139286540	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	695618	139286540	1926891	884	130402											
SEC16A	9919	broad.mit.edu	37	chr9	139360442	139360442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcaggccagacggtgtcGgcagggtagccatactctgg	16	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139360442G>A	uc004chx.2	-	8	4584	c.4275C>T	c.(4273-4275)GCC>GCT	p.A1425A	SEC16A_uc004chv.3_Silent_p.A815A|SEC16A_uc004chw.2_Silent_p.A1425A|SEC16A_uc010nbn.2_Silent_p.A1425A	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1247					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGACGGTGTCGGCAGGGTAGC	0.632													A	139360442	G	A	139360442	2	1	264	1	0	0	0	0	0	0	0	1	13986	1103	39	1		1	SEC16A	9	139360442	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	73902	139360442	1852989	885	130403											
NOTCH1	4851	broad.mit.edu	37	chr9	139401320	139401320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcaggtgcagctgtagCcgcccacctggtccacgcag	15	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139401320C>T	uc004chz.2	-	23	3749	c.3749G>A	c.(3748-3750)GGC>GAC	p.G1250D	NOTCH1_uc004cia.1_Missense_Mutation_p.G480D	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1250	Extracellular (Potential).|EGF-like 32; 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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGCTGTAGCCGCCCACCTG	0.652			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139401320	C	T	139401320	3	4	264	1	0	0	0	0	1	0	0	0	10547	739	26	2	3966	2	NOTCH1	9	139401320	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	40878	139401320	1812111	886	130404											
ABCA2	20	broad.mit.edu	37	chr9	139904435	139904435	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgccccacagatcctcacCcgggcctcgtccttccagga	8	21	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139904435C>A	uc011mem.1	-	41	6640	c.6492G>T	c.(6490-6492)CGG>CGT	p.R2164R	ABCA2_uc011mel.1_Silent_p.R2165R|ABCA2_uc004ckl.1_Silent_p.R2095R|ABCA2_uc004ckm.1_Silent_p.R2195R	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2164	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				0	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)		AGATCCTCACCCGGGCCTCGT	0.687													A	139904435	C	A	139904435	2	1	264	1	0	0	0	0	0	0	0	1	32	637	22	5		5	ABCA2	9	139904435	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	503115	139904435	1308996	887	130405											
ABCA2	20	broad.mit.edu	37	chr9	139915842	139915842	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggcaggcagggcctcAcctgctgggagaccttggcc	16	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139915842A>G	uc011mem.1	-	7	1042	c.894_splice	c.e7+1	p.Q298_splice	ABCA2_uc011mel.1_Splice_Site_p.Q299_splice|ABCA2_uc004ckl.1_Splice_Site_p.Q229_splice|ABCA2_uc004ckm.1_Splice_Site_p.Q329_splice|ABCA2_uc004cko.1_Splice_Site_p.Q75_splice|ABCA2_uc010nca.2_Splice_Site_p.Q229_splice	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 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				0	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)		GCAGGGCCTCACCTGCTGGGA	0.687													G	139915842	A	G	139915842	5	3	264	1	0	0	0	0	0	0	1	0	32	173	6	3	6579	3	ABCA2	9	139915842	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	11407	139915842	1297589	888	130406											
ANAPC2	29882	broad.mit.edu	37	chr9	140080740	140080740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggtcctccatcctctccCgggtcacctggtgcagggtg	12	15	2	0	rs146337536		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:140080740C>T	uc004clr.1	-	3	882	c.809G>A	c.(808-810)CGG>CAG	p.R270Q	ANAPC2_uc004clq.1_Missense_Mutation_p.R129Q|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	270					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			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CATCCTCTCCCGGGTCACCTG	0.672													T	140080740	C	T	140080740	3	4	264	1	0	0	0	0	1	0	0	0	603	652	23	1	1703	1	ANAPC2	9	140080740	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	164898	140080740	1132691	889	130407											
CACNA1B	774	broad.mit.edu	37	chr9	141016148	141016148	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgaacacaacgccctgctGcagagagaccccctcagcca	8	18	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:141016148G>T	uc004cog.2	+	46	6862	c.6717G>T	c.(6715-6717)CTG>CTT	p.L2239L	CACNA1B_uc004coi.2_Silent_p.L1451L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2239	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACGCCCTGCTGCAGAGAGACC	0.672													T	141016148	G	T	141016148	2	4	264	1	0	0	0	0	0	0	0	1	2539	1306	46	5		5	CACNA1B	9	141016148	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	935408	141016148	197283	890	130408											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	264	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08		890939	134643808	891	130409											
ADARB2	105	broad.mit.edu	37	chr10	1230952	1230952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggggggcgacttccccGgctggcgcgcctcggcgtca	17	14	1	1	rs138785387		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:1230952G>A	uc009xhq.2	-	9	2266	c.1892C>T	c.(1891-1893)CCG>CTG	p.P631L	ADARB2_uc009xhp.2_Missense_Mutation_p.P15L|ADARB2_uc001igl.3_5'UTR|ADARB2_uc001igm.3_Missense_Mutation_p.P140L	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	631	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGACTTCCCCGGCTGGCGCGC	0.682													A	1230952	G	A	1230952	3	1	264	1	0	0	0	0	1	0	0	0	283	1116	39	1	335	1	ADARB2	10	1230952	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	340013	1230952	134303795	892	130410											
C10orf18	54906	broad.mit.edu	37	chr10	5772584	5772584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaaacacattagtaaagCgtcatttccaagaattgtac	5	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:5772584C>T	uc001iij.2	+	11	1247	c.622C>T	c.(622-624)CGT>TGT	p.R208C	C10orf18_uc001iik.2_5'Flank	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	208										ovary(1)|central_nervous_system(1)	2						ATTAGTAAAGCGTCATTTCCA	0.413													T	5772584	C	T	5772584	3	4	264	1	0	0	0	0	1	0	0	0	1596	768	27	1	652	1	C10orf18	10	5772584	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4541632	5772584	129762163	893	130411											
PRPF18	8559	broad.mit.edu	37	chr10	13642313	13642313	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttagaacttgaactggcaGaggaaaaattacctatgacg	10	6	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:13642313G>A	uc001imp.2	+	3	362	c.214G>A	c.(214-216)GAG>AAG	p.E72K	PRPF18_uc001imq.2_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	PRP18 pre-mRNA processing factor 18 homolog	72					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1						TGAACTGGCAGAGGAAAAATT	0.368													A	13642313	G	A	13642313	3	1	264	1	0	0	0	0	1	0	0	0	12563	943	33	4	224	4	PRPF18	10	13642313	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7869729	13642313	121892434	894	130412											
CUBN	8029	broad.mit.edu	37	chr10	16996544	16996544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagcttaagccatcgtAtgcctacaagaaaggagaca	11	8	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:16996544A>G	uc001ioo.2	-	32	4751	c.4699T>C	c.(4699-4701)TAC>CAC	p.Y1567H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1567	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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCCATCGTATGCCTACAAG	0.512													G	16996544	A	G	16996544	3	3	264	1	0	0	0	0	1	0	0	0	4051	449	16	3	6316	3	CUBN	10	16996544	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3354231	16996544	118538203	895	130413											
VIM	7431	broad.mit.edu	37	chr10	17276790	17276790	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacaggtgcagtccctcacCtgtgaagtggatgcccttaa	11	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:17276790C>A	uc001iou.2	+	6	1394	c.981C>A	c.(979-981)ACC>ACA	p.T327T	VIM_uc001iov.1_Silent_p.T327T|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.T327T|VIM_uc001ioy.1_Silent_p.T327T|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Silent_p.T327T	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	327	Rod.|Coil 2.				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			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGTCCCTCACCTGTGAAGTGG	0.532													A	17276790	C	A	17276790	2	1	264	1	0	0	0	0	0	0	0	1	17163	668	24	5		5	VIM	10	17276790	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	280246	17276790	118257957	896	130414											
SLC39A12	221074	broad.mit.edu	37	chr10	18289716	18289716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcaggagtgaccactaCgattgctatcttgtgtcatg	11	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:18289716C>T	uc001ipo.2	+	11	1994	c.1721C>T	c.(1720-1722)ACG>ATG	p.T574M	SLC39A12_uc001ipn.2_Missense_Mutation_p.T537M|SLC39A12_uc001ipp.2_Missense_Mutation_p.T573M|SLC39A12_uc010qck.1_Missense_Mutation_p.T440M	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	574	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.T537M(1)		ovary(1)|breast(1)	2						GTGACCACTACGATTGCTATC	0.443													T	18289716	C	T	18289716	3	4	264	1	0	0	0	0	1	0	0	0	14615	536	19	1	1759	1	SLC39A12	10	18289716	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1012926	18289716	117245031	897	130415											
NEBL	10529	broad.mit.edu	37	chr10	21141528	21141528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgttccacagcatctgcAtcaaaatgatacattccttt	5	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:21141528A>G	uc001iqi.2	-	10	1351	c.954T>C	c.(952-954)GAT>GAC	p.D318D	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	318	Nebulin 9.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CAGCATCTGCATCAAAATGAT	0.438													G	21141528	A	G	21141528	2	3	264	1	0	0	0	0	0	0	0	1	10303	214	8	3		3	NEBL	10	21141528	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2851812	21141528	114393219	898	130416											
DNAJC1	64215	broad.mit.edu	37	chr10	22048203	22048203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtttctgttgattttgagTccacggctcctctgcagacc	9	11	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:22048203T>C	uc001irc.2	-	11	1779	c.1492A>G	c.(1492-1494)ACT>GCT	p.T498A	DNAJC1_uc001ird.2_Missense_Mutation_p.T384A	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	498	SANT 2.|Cytoplasmic (By similarity).				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			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TGATTTTGAGTCCACGGCTCC	0.537													C	22048203	T	C	22048203	3	2	264	1	0	0	0	0	1	0	0	0	4628	1667	58	3	180	3	DNAJC1	10	22048203	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	906675	22048203	113486544	899	130417											
KIAA1217	56243	broad.mit.edu	37	chr10	24833918	24833918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcccacagggctccagCggggccccacagacgagcag	12	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:24833918C>T	uc001iru.3	+	20	5623	c.5220C>T	c.(5218-5220)AGC>AGT	p.S1740S	KIAA1217_uc001irs.2_Silent_p.S1061S|KIAA1217_uc001irt.3_Silent_p.S1106S|KIAA1217_uc010qcy.1_Silent_p.S1171S|KIAA1217_uc010qcz.1_Silent_p.S1146S|KIAA1217_uc001irw.2_Silent_p.S890S|KIAA1217_uc001irz.2_Silent_p.S824S|KIAA1217_uc001irx.2_Silent_p.S1423S|KIAA1217_uc001iry.2_Silent_p.S864S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1740					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGGGCTCCAGCGGGGCCCCAC	0.607													T	24833918	C	T	24833918	2	4	264	1	0	0	0	0	0	0	0	1	8216	767	27	1		1	KIAA1217	10	24833918	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2785715	24833918	110700829	900	130418											
GPR158	57512	broad.mit.edu	37	chr10	25887977	25887977	+	Frame_Shift_Del	DEL	A	A	-													caaccaaataggacaccaggAaaaaaagacatcttcttctg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:25887976_25887976GA>G	uc001isj.3	+	10	3481	c.3421_3421GA>G	c.(3421-3423)gaafs	p.E1141fs	GPR158_uc001isk.3_Frame_Shift_Del_p.E516fs	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1141						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						AGGACACCAGGAAAAAAAGAC	0.453													-	25887977	A	-	25887977	7	5	264	1	0	1	0	1	0	0	0	0	6663	246	9	0	3464	0	GPR158	10	25887977	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1054059	25887977	109646770	901	130419											
MYO3A	53904	broad.mit.edu	37	chr10	26385373	26385373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgaaaagaagaaactAgcccattacaaactgcctga	8	9	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:26385373A>G	uc001isn.2	+	16	1986	c.1626A>G	c.(1624-1626)CTA>CTG	p.L542L	MYO3A_uc009xko.1_Silent_p.L542L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.L542L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	542	Myosin head-like.				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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGAAGAAACTAGCCCATTACA	0.313													G	26385373	A	G	26385373	2	3	264	1	0	0	0	0	0	0	0	1	10076	407	15	3		3	MYO3A	10	26385373	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	497396	26385373	109149374	902	130420											
ABI1	10006	broad.mit.edu	37	chr10	27037590	27037592	+	In_Frame_Del	DEL	TTC	TTC	-													cttcataccagccatcatcaTtcttctttataacataaatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:27037589_27037591ATTC>A	uc001isx.3	-	11	1659_1661	c.1435_1437GAAT>T	c.(1435-1437)aat>T	p.N479del	ABI1_uc001itb.3_In_Frame_Del_p.N467del|ABI1_uc001ite.3_In_Frame_Del_p.N417del|ABI1_uc010qdh.2_In_Frame_Del_p.N359del|ABI1_uc010qdi.2_In_Frame_Del_p.N300del|ABI1_uc001itc.3_In_Frame_Del_p.N451del|ABI1_uc001isy.3_In_Frame_Del_p.N452del|ABI1_uc001itd.3_In_Frame_Del_p.N422del|ABI1_uc010qdj.2_In_Frame_Del_p.N393del|ABI1_uc001ita.3_In_Frame_Del_p.N423del|ABI1_uc010qdk.2_In_Frame_Del_p.N364del|ABI1_uc001isz.3_In_Frame_Del_p.N447del|ABI1_uc010qdg.2_In_Frame_Del_p.N289del	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	479	SH3.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCATCATCATTCTTCTTTATA	0.345													-	27037592	TTC	-	27037590	7	5	264	1	0	1	0	1	0	0	0	0	88	1493	52	0	94	0	ABI1	10	27037590	In_Frame_Del	DEL	TTC	TCGA-HU-A4G8-01A-11D-A25D-08	652217	27037590	108497157	903	130421											
ANKRD26	22852	broad.mit.edu	37	chr10	27295869	27295869	+	Frame_Shift_Del	DEL	T	T	-													ctttgagttctctagttataTttttttccaactcctgctgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:27295868_27295868AT>A	uc009xku.1	-	32	5149	c.4977_4977AT>T	c.(4975-4977)aatfs	p.N1659fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.N1345fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.N1658fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1658						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						CTCTAGTTATATTTTTTTCCA	0.274													-	27295869	T	-	27295869	7	5	264	1	0	1	0	1	0	0	0	0	654	1493	52	0	164	0	ANKRD26	10	27295869	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	258279	27295869	108238878	904	130422											
SVIL	6840	broad.mit.edu	37	chr10	29821473	29821473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacagttcaggtctcctgCaggcgttggcagatgccagg	13	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:29821473C>T	uc001iut.1	-	8	2576	c.1823G>A	c.(1822-1824)TGC>TAC	p.C608Y	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.C608Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	608					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				AGGTCTCCTGCAGGCGTTGGC	0.562													T	29821473	C	T	29821473	3	4	264	1	0	0	0	0	1	0	0	0	15418	710	25	2	4945	2	SVIL	10	29821473	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2525604	29821473	105713274	905	130423											
KIAA1462	57608	broad.mit.edu	37	chr10	30336501	30336501	+	Frame_Shift_Del	DEL	C	C	-													agcagaagtgctctggggctCcccgtggcctctcggtgtgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:30336500_30336500TC>T	uc009xle.2	-	1	379	c.242_242GA>A	c.(241-243)gagfs	p.E81fs	KIAA1462_uc001iux.3_Frame_Shift_Del_p.E81fs|KIAA1462_uc001iuy.3_Frame_Shift_Del_p.E81fs|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	81										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						GCTCTGGGGCTCCCCGTGGCC	0.607													-	30336501	C	-	30336501	7	5	264	1	0	1	0	1	0	0	0	0	8234	864	30	0	3850	0	KIAA1462	10	30336501	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	515028	30336501	105198246	906	130424											
ZEB1	6935	broad.mit.edu	37	chr10	31809819	31809819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgttaagtctgagaaggAcaaaagctttgaaggggggg	15	4	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:31809819A>G	uc001ivs.3	+	7	1619	c.1556A>G	c.(1555-1557)GAC>GGC	p.D519G	ZEB1_uc001ivr.3_Missense_Mutation_p.D301G|ZEB1_uc010qee.1_Missense_Mutation_p.D301G|ZEB1_uc010qef.1_Missense_Mutation_p.D301G|ZEB1_uc009xlj.1_Missense_Mutation_p.D445G|ZEB1_uc010qeg.1_Missense_Mutation_p.D378G|ZEB1_uc009xlk.1_Missense_Mutation_p.D301G|ZEB1_uc001ivt.3_Missense_Mutation_p.D301G|ZEB1_uc001ivu.3_Missense_Mutation_p.D520G|ZEB1_uc001ivv.3_Missense_Mutation_p.D499G|ZEB1_uc010qeh.1_Missense_Mutation_p.D452G|ZEB1_uc009xlo.1_Missense_Mutation_p.D502G|ZEB1_uc009xlp.2_Missense_Mutation_p.D503G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	519					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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TCTGAGAAGGACAAAAGCTTT	0.368													G	31809819	A	G	31809819	3	3	264	1	0	0	0	0	1	0	0	0	17620	275	10	3	1596	3	ZEB1	10	31809819	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1473318	31809819	103724928	907	130425											
FZD8	8325	broad.mit.edu	37	chr10	35930056	35930056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggcggcagcggcttcTtgtagtcctctaggcagatg	16	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:35930056T>G	uc001iyz.1	-	1	307	c.302A>C	c.(301-303)AAG>ACG	p.K101T		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	101	FZ.|Extracellular (Potential).				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				0						CAGCGGCTTCTTGTAGTCCTC	0.672													G	35930056	T	G	35930056	3	3	264	1	0	0	0	0	1	0	0	0	6136	1609	56	5	1786	5	FZD8	10	35930056	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4120237	35930056	99604691	908	130426											
ANKRD30A	91074	broad.mit.edu	37	chr10	37414926	37414926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaccttaatatacaagacGcccagaagaggtaccaggcc	8	12	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:37414926G>A	uc001iza.1	+	1	142	c.43G>A	c.(43-45)GCC>ACC	p.A15T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	71						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TATACAAGACGCCCAGAAGAG	0.602													A	37414926	G	A	37414926	3	1	264	1	0	0	0	0	1	0	0	0	658	1087	38	1	45	1	ANKRD30A	10	37414926	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1484870	37414926	98119821	909	130427											
BMS1	9790	broad.mit.edu	37	chr10	43294048	43294048	+	Frame_Shift_Del	DEL	C	C	-													ctccagatttcttgtggaggCcccccatgactgggatttag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43294047_43294047GC>G	uc001jaj.3	+	11	2579	c.2221_2221GC>G	c.(2221-2223)gccfs	p.A741fs		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	741					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						TCTTGTGGAGGCCCCCCATGA	0.433													-	43294048	C	-	43294048	7	5	264	1	0	1	0	1	0	0	0	0	1472	739	26	0	2264	0	BMS1	10	43294048	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	5879122	43294048	92240699	910	130428											
RET	5979	broad.mit.edu	37	chr10	43602002	43602002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggcagcttcgtgcgggCgaccgtacatgactatagta	12	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43602002C>T	uc001jal.2	+	5	1236	c.1046C>T	c.(1045-1047)GCG>GTG	p.A349V	RET_uc001jak.1_Missense_Mutation_p.A349V|RET_uc010qez.1_Missense_Mutation_p.A95V	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	349	Extracellular (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTCGTGCGGGCGACCGTACAT	0.647		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				T	43602002	C	T	43602002	3	4	264	1	0	0	0	0	1	0	0	0	13235	768	27	1	1064	1	RET	10	43602002	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	307954	43602002	91932745	911	130429											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43659393	43659393	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactaaatgtgggtgccCgagcttgggacaagggagag	18	6	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43659393C>T	uc001jan.2	+	5	1395	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	354	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TGTGGGTGCCCGAGCTTGGGA	0.433													T	43659393	C	T	43659393	4	4	264	1	0	0	0	0	0	1	0	0	3939	644	23	1	1074	1	CSGALNACT2	10	43659393	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	57391	43659393	91875354	912	130430											
HNRNPF	3185	broad.mit.edu	37	chr10	43882438	43882438	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcgttctcggtcgcttTgtacggcaggcccctcatgt	11	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43882438T>C	uc009xmh.1	-	3	1382	c.895A>G	c.(895-897)AAA>GAA	p.K299E	HNRNPF_uc001jar.2_Missense_Mutation_p.K299E|HNRNPF_uc001jas.2_Missense_Mutation_p.K299E|HNRNPF_uc001jat.2_Missense_Mutation_p.K299E|HNRNPF_uc001jav.2_Missense_Mutation_p.K299E|HNRNPF_uc001jau.2_Missense_Mutation_p.K299E|uc010qfa.1_Silent_p.F40F	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	299	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TCGGTCGCTTTGTACGGCAGG	0.527													C	43882438	T	C	43882438	3	2	264	1	0	0	0	0	1	0	0	0	7265	1821	63	3	356	3	HNRNPF	10	43882438	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	223045	43882438	91652309	913	130431											
GPRIN2	9721	broad.mit.edu	37	chr10	46999909	46999909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcggccccagtggcGgcctgcaaggctgtggccac	17	14	0	0	rs138030134	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:46999909G>A	uc001jec.2	+	3	1164	c.1029G>A	c.(1027-1029)GCG>GCA	p.A343A	GPRIN2_uc010qfq.1_Silent_p.A106A	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	343											0						CCCCAGTGGCGGCCTGCAAGG	0.652													A	46999909	G	A	46999909	2	1	264	1	0	0	0	0	0	0	0	1	6730	1103	39	1		1	GPRIN2	10	46999909	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3117471	46999909	88534838	914	130432											
GDF2	2658	broad.mit.edu	37	chr10	48416366	48416366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttccatgctgaagctccGcacaatgttggacgctggcg	11	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:48416366G>A	uc001jfa.1	-	1	491	c.328C>T	c.(328-330)CGG>TGG	p.R110W		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	110					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			ovary(2)|skin(1)	3						CTGAAGCTCCGCACAATGTTG	0.498													A	48416366	G	A	48416366	3	1	264	1	0	0	0	0	1	0	0	0	6314	1086	38	1	969	1	GDF2	10	48416366	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1416457	48416366	87118381	915	130433											
ERCC6	2074	broad.mit.edu	37	chr10	50701224	50701224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaacggaggccaccacGtgtgaaattccttcacccac	8	15	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:50701224G>A	uc001jhs.3	-	8	1914	c.1760C>T	c.(1759-1761)ACG>ATG	p.T587M	ERCC6_uc010qgr.1_Intron|ERCC6_uc001jhr.3_Translation_Start_Site	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	587	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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						AGGCCACCACGTGTGAAATTC	0.423								Direct_reversal_of_damage|NER					A	50701224	G	A	50701224	3	1	264	1	0	0	0	0	1	0	0	0	5217	1145	40	1	2777	1	ERCC6	10	50701224	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2284858	50701224	84833523	916	130434											
PCDH15	65217	broad.mit.edu	37	chr10	55943317	55943317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgaatattgacgatgaCtggctcactttcttgtacac	7	10	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:55943317C>T	uc001jju.1	-	13	1872	c.1477G>A	c.(1477-1479)GTC>ATC	p.V493I	PCDH15_uc010qhq.1_Missense_Mutation_p.V498I|PCDH15_uc010qhr.1_Missense_Mutation_p.V493I|PCDH15_uc010qhs.1_Missense_Mutation_p.V505I|PCDH15_uc010qht.1_Missense_Mutation_p.V500I|PCDH15_uc010qhu.1_Missense_Mutation_p.V493I|PCDH15_uc001jjv.1_Missense_Mutation_p.V471I|PCDH15_uc010qhv.1_Missense_Mutation_p.V493I|PCDH15_uc010qhw.1_Missense_Mutation_p.V456I|PCDH15_uc010qhx.1_Missense_Mutation_p.V493I|PCDH15_uc010qhy.1_Missense_Mutation_p.V498I|PCDH15_uc010qhz.1_Missense_Mutation_p.V493I|PCDH15_uc010qia.1_Missense_Mutation_p.V471I|PCDH15_uc010qib.1_Missense_Mutation_p.V471I|PCDH15_uc001jjw.2_Missense_Mutation_p.V493I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	493	Cadherin 4.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGACGATGACTGGCTCACTT	0.388										HNSCC(58;0.16)			T	55943317	C	T	55943317	3	4	264	1	0	0	0	0	1	0	0	0	11511	565	20	4	6093	4	PCDH15	10	55943317	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5242093	55943317	79591430	917	130435											
ANK3	288	broad.mit.edu	37	chr10	61827734	61827734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcggctactattgccatcCtgatatctgtccgttcacat	7	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:61827734C>A	uc001jky.2	-	38	12470	c.12278G>T	c.(12277-12279)AGG>ATG	p.R4093M	ANK3_uc001jkw.2_Missense_Mutation_p.R614M|ANK3_uc009xpa.2_Missense_Mutation_p.R614M|ANK3_uc001jkx.2_Missense_Mutation_p.R658M|ANK3_uc010qih.1_Missense_Mutation_p.R1481M|ANK3_uc001jkz.3_Missense_Mutation_p.R1474M|ANK3_uc001jkv.2_Missense_Mutation_p.R13M|ANK3_uc009xpb.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4093	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TATTGCCATCCTGATATCTGT	0.368													A	61827734	C	A	61827734	3	1	264	1	0	0	0	0	1	0	0	0	622	681	24	5	1192	5	ANK3	10	61827734	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5884417	61827734	73707013	918	130436											
ANK3	288	broad.mit.edu	37	chr10	61834217	61834218	+	Frame_Shift_Ins	INS	-	-	G													agtgctttcagcgctttgtgINSgggctgaaggtgtcttttca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:61834216_61834217T>TG	uc001jky.3	-	36	6760_6761	c.6422_6423A>CA	c.(6421-6423)ccafs	p.P2141fs	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2141					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						CAGCGCTTTGTGGGGCTGAAGG	0.426													G	61834218	-	G	61834217	7	5	264	1	0	1	1	0	0	0	0	0	622	1348	47	0	7052	0	ANK3	10	61834217	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	6483	61834217	73700530	919	130437											
DDX50	79009	broad.mit.edu	37	chr10	70670982	70670983	+	Frame_Shift_Ins	INS	-	-	A													aagaaatcaagaaacaattaINSaaaaaagccgctcaccaaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:70670981_70670982T>TA	uc001jou.3	+	3	725_726	c.618_619T>TA	c.(616-621)attaaafs	p.I206fs	DDX50_uc001jot.3_Frame_Shift_Ins_p.I206fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAACAATTAAAAAAAGCCG	0.371													A	70670983	-	A	70670982	7	5	264	1	0	1	1	0	0	0	0	0	4368	363	13	0	633	0	DDX50	10	70670982	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	8836765	70670982	64863765	920	130438											
CDH23	64072	broad.mit.edu	37	chr10	73437370	73437370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggatgtcaacgacaacGtgcccaccttccagaaggat	10	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:73437370G>A	uc001jrx.3	+	15	2049	c.1672G>A	c.(1672-1674)GTG>ATG	p.V558M	CDH23_uc001jry.2_Missense_Mutation_p.V174M|CDH23_uc001jrz.2_Missense_Mutation_p.V174M	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	558	Cadherin 5.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CAACGACAACGTGCCCACCTT	0.632													A	73437370	G	A	73437370	3	1	264	1	0	0	0	0	1	0	0	0	3108	1145	40	1	1957	1	CDH23	10	73437370	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2766388	73437370	62097377	921	130439											
SPOCK2	9806	broad.mit.edu	37	chr10	73827479	73827479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcagccaggtcctgacCggtgcaagtctctgcagaac	12	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:73827479C>T	uc001jso.1	-	7	1046	c.601G>A	c.(601-603)GGT>AGT	p.G201S	SPOCK2_uc001jsp.2_Missense_Mutation_p.G201S	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	201					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						AGGTCCTGACCGGTGCAAGTC	0.607													T	73827479	C	T	73827479	3	4	264	1	0	0	0	0	1	0	0	0	15079	652	23	1	693	1	SPOCK2	10	73827479	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	390109	73827479	61707268	922	130440											
NUDT13	25961	broad.mit.edu	37	chr10	74879892	74879892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttcagcacatcaataccTggccccccggcacagcctgt	8	17	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:74879892T>G	uc001jtj.2	+	3	325	c.200T>G	c.(199-201)CTG>CGG	p.L67R	NUDT13_uc010qkc.1_5'UTR|NUDT13_uc010qkd.1_5'UTR|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Missense_Mutation_p.L67R|NUDT13_uc010qke.1_5'UTR|NUDT13_uc001jtl.2_Missense_Mutation_p.L67R	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	67							hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					CATCAATACCTGGCCCCCCGG	0.498													G	74879892	T	G	74879892	3	3	264	1	0	0	0	0	1	0	0	0	10729	1580	55	5	206	5	NUDT13	10	74879892	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1052413	74879892	60654855	923	130441											
SEC24C	9632	broad.mit.edu	37	chr10	75525560	75525561	+	Frame_Shift_Ins	INS	-	-	C													tgccatgcttcccacagttcINSccccccagtattttcagcac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:75525559_75525560T>TC	uc001juw.3	+	10	1548_1549	c.1368_1369T>TC	c.(1366-1371)gttcccfs	p.V456fs	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum 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)					TTCCCACAGTTCCCCCCCAGTA	0.51													C	75525561	-	C	75525560	7	5	264	1	0	1	1	0	0	0	0	0	13996	855	30	0	1403	0	SEC24C	10	75525560	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	645668	75525560	60009187	924	130442											
CHCHD1	118487	broad.mit.edu	37	chr10	75541869	75541869	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggggtcgtctggcgcgGtttgggaacccgcggaagcc	18	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:75541869G>C	uc001jvc.3	+	1	62	c.36G>C	c.(34-36)CGG>CGC	p.R12R	CHCHD1_uc001jvb.2_Silent_p.R12R	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain	12						nucleus					0	Prostate(51;0.0112)					GTCTGGCGCGGTTTGGGAACC	0.672													C	75541869	G	C	75541869	2	2	264	1	0	0	0	0	0	0	0	1	3314	1248	44	5		5	CHCHD1	10	75541869	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	16309	75541869	59992878	925	130443											
NDST2	8509	broad.mit.edu	37	chr10	75565424	75565424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggaagggtctgtaggCgcagccgtgtccaacactgg	16	10	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:75565424C>T	uc001jvk.2	-	8	2471	c.1667G>A	c.(1666-1668)CGC>CAC	p.R556H	NDST2_uc010qks.1_Missense_Mutation_p.R182H|NDST2_uc010qkt.1_Missense_Mutation_p.R433H|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.R182H|NDST2_uc010qku.1_Missense_Mutation_p.R431H	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	556	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					GGTCTGTAGGCGCAGCCGTGT	0.532													T	75565424	C	T	75565424	3	4	264	1	0	0	0	0	1	0	0	0	10256	768	27	1	1016	1	NDST2	10	75565424	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	23555	75565424	59969323	926	130444											
MYST4	23522	broad.mit.edu	37	chr10	76603125	76603125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttactgaaagacggaccGcagtacagggtcaattatgg	13	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:76603125G>A	uc001jwn.1	+	3	1003	c.510G>A	c.(508-510)CCG>CCA	p.P170P	MYST4_uc001jwm.1_Silent_p.P170P|MYST4_uc001jwo.1_Silent_p.P170P|MYST4_uc001jwp.1_Silent_p.P170P	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	170	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AAGACGGACCGCAGTACAGGG	0.562			T	CREBBP	AML								A	76603125	G	A	76603125	2	1	264	1	0	0	0	0	0	0	0	1	10105	1074	38	1		1	MYST4	10	76603125	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1037701	76603125	58931622	927	130445											
KCNMA1	3778	broad.mit.edu	37	chr10	78870034	78870034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaccatgagtaaatagAcacattcccagtaggtgaga	10	7	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:78870034A>G	uc001jxn.2	-	8	1205	c.1028T>C	c.(1027-1029)GTC>GCC	p.V343A	KCNMA1_uc001jxj.2_Missense_Mutation_p.V343A|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.V163A|KCNMA1_uc001jxl.1_5'UTR|KCNMA1_uc001jxo.2_Missense_Mutation_p.V343A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V343A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V343A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	343					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			pancreas(2)|ovary(1)	3	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)	GAGTAAATAGACACATTCCCA	0.468													G	78870034	A	G	78870034	3	3	264	1	0	0	0	0	1	0	0	0	8073	275	10	3	2938	3	KCNMA1	10	78870034	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2266909	78870034	56664713	928	130446											
NRG3	10718	broad.mit.edu	37	chr10	83635520	83635520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccccgccaccccctccGccgggggtgccgcctcctcc	10	25	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:83635520G>A	uc001kco.2	+	1	451	c.424G>A	c.(424-426)GCC>ACC	p.A142T	NRG3_uc010qlz.1_Missense_Mutation_p.A142T|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	142	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		caccccctccgccGGGGGTGC	0.527													A	83635520	G	A	83635520	3	1	264	1	0	0	0	0	1	0	0	0	10649	1087	38	1	426	1	NRG3	10	83635520	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4765486	83635520	51899227	929	130447											
CDHR1	92211	broad.mit.edu	37	chr10	85974164	85974164	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagaaagctctctgctcccGagagctccggctctccctcc	8	19	2	2	rs150097621	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:85974164G>A	uc001kcv.2	+	17	2367	c.2367G>A	c.(2365-2367)CCG>CCA	p.P789P	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.P493P|CDHR1_uc001kcx.2_Silent_p.P103P	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	789	Cytoplasmic (Potential).|Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CTCTGCTCCCGAGAGCTCCGG	0.592													A	85974164	G	A	85974164	2	1	264	1	0	0	0	0	0	0	0	1	3118	1045	37	1		1	CDHR1	10	85974164	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2338644	85974164	49560583	930	130448											
RGR	5995	broad.mit.edu	37	chr10	86017717	86017717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgccatcctgtatctataCgcagtcatcgcagacgtgac	8	12	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:86017717C>T	uc001kdc.1	+	6	737	c.699C>T	c.(697-699)TAC>TAT	p.Y233Y	RGR_uc001kdd.1_Silent_p.Y237Y|RGR_uc001kde.1_Intron	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	233	Helical; Name=6; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						TGTATCTATACGCAGTCATCG	0.517													T	86017717	C	T	86017717	2	4	264	1	0	0	0	0	0	0	0	1	13291	547	19	1		1	RGR	10	86017717	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	43553	86017717	49517030	931	130449											
RNLS	55328	broad.mit.edu	37	chr10	90342924	90342924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcttcctgtcatcccggcGcccacgatcagcacctgcgc	9	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:90342924G>A	uc001kfe.2	-	1	159	c.24C>T	c.(22-24)GGC>GGT	p.G8G	RNLS_uc010qms.1_Silent_p.G8G|RNLS_uc001kfd.2_Silent_p.G8G	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	8						extracellular region	oxidoreductase activity			ovary(1)	1						TCATCCCGGCGCCCACGATCA	0.672											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	90342924	G	A	90342924	2	1	264	1	0	0	0	0	0	0	0	1	13505	1074	38	1		1	RNLS	10	90342924	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4325207	90342924	45191823	932	130450											
HECTD2	143279	broad.mit.edu	37	chr10	93244943	93244943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatctttacagatactgCaaacaatttagttcaccctc	3	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:93244943C>T	uc001khl.2	+	10	1077	c.977C>T	c.(976-978)GCA>GTA	p.A326V	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.A330V|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	326					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						ACAGATACTGCAAACAATTTA	0.303													T	93244943	C	T	93244943	3	4	264	1	0	0	0	0	1	0	0	0	7040	710	25	2	1039	2	HECTD2	10	93244943	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2902019	93244943	42289804	933	130451											
MYOF	26509	broad.mit.edu	37	chr10	95116503	95116503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatttttctcctccagcGtctgcggcggaaggtatctg	11	12	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:95116503G>A	uc001kin.2	-	30	3346	c.3223C>T	c.(3223-3225)CGC>TGC	p.R1075C	MYOF_uc001kio.2_Missense_Mutation_p.R1062C|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1075	Cytoplasmic (Potential).|Poly-Arg.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CTCCTCCAGCGTCTGCGGCGG	0.483													A	95116503	G	A	95116503	3	1	264	1	0	0	0	0	1	0	0	0	10089	1145	40	1	3062	1	MYOF	10	95116503	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1871560	95116503	40418244	934	130452											
ALDH18A1	5832	broad.mit.edu	37	chr10	97402837	97402837	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccgagcttcaccacgattCtcttggcatgcttcagctca	8	14	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:97402837C>A	uc001kkz.2	-	3	457	c.215G>T	c.(214-216)AGA>ATA	p.R72I	ALDH18A1_uc001kky.2_Missense_Mutation_p.R72I|ALDH18A1_uc010qog.1_Intron|ALDH18A1_uc010qoh.1_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	72	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CACCACGATTCTCTTGGCATG	0.567													A	97402837	C	A	97402837	3	1	264	1	0	0	0	0	1	0	0	0	489	913	32	5	2236	5	ALDH18A1	10	97402837	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2286334	97402837	38131910	935	130453											
ZNF518A	9849	broad.mit.edu	37	chr10	97920369	97920369	+	Frame_Shift_Del	DEL	A	A	-													taacactcaaaaagacaagcAaaaacaattaccagattgtg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:97920369delA	uc001klp.2	+	7	5148	c.4291delA	c.(4291-4293)AAAfs	p.K1431fs	ZNF518A_uc001klo.1_3'UTR|ZNF518A_uc001klq.2_3'UTR|ZNF518A_uc001klr.2_3'UTR	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAGACAAGCAAAAACAATTA	0.313													-	97920369	A	-	97920369	7	5	264	1	0	1	0	1	0	0	0	0	17959	117	5	0	4292	0	ZNF518A	10	97920369	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	517532	97920369	37614378	936	130454											
BLNK	29760	broad.mit.edu	37	chr10	97987266	97987266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagcgttctcctcggcGggcatcacgtacatctctga	9	14	5	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:97987266G>A	uc001kls.3	-	5	439	c.261C>T	c.(259-261)CCC>CCT	p.P87P	BLNK_uc001kme.3_Silent_p.P5P|BLNK_uc001klt.3_Silent_p.P5P|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.P5P|BLNK_uc001klv.3_Silent_p.P87P|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.P87P|BLNK_uc001kly.3_Silent_p.P87P|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.P87P|BLNK_uc001kmb.3_5'UTR|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.P5P|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	87					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			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTCCTCGGCGGGCATCACGT	0.577													A	97987266	G	A	97987266	2	1	264	1	0	0	0	0	0	0	0	1	1447	1103	39	1		1	BLNK	10	97987266	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	66897	97987266	37547481	937	130455											
PIK3AP1	118788	broad.mit.edu	37	chr10	98355339	98355339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaggaggtggaatcagcGtcctctgggtggaacaggtg	16	6	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:98355339G>A	uc001kmq.2	-	17	2541	c.2413C>T	c.(2413-2415)CGC>TGC	p.R805C	PIK3AP1_uc001kmo.2_Missense_Mutation_p.R404C|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R627C	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	805						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGGAATCAGCGTCCTCTGGGT	0.428													A	98355339	G	A	98355339	3	1	264	1	0	0	0	0	1	0	0	0	11908	1145	40	1	8	1	PIK3AP1	10	98355339	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	368073	98355339	37179408	938	130456											
MMS19	64210	broad.mit.edu	37	chr10	99237151	99237151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatattgtagactgtgTgtcggtccacctgtggcagg	14	7	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:99237151T>C	uc001kns.3	-	6	671	c.446A>G	c.(445-447)CAC>CGC	p.H149R	MMS19_uc009xvt.2_5'UTR|MMS19_uc001knr.2_5'UTR|MMS19_uc010qox.1_Missense_Mutation_p.H170R|MMS19_uc001knt.2_Missense_Mutation_p.H149R|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	149					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				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GTAGACTGTGTGTCGGTCCAC	0.458								Direct_reversal_of_damage|NER					C	99237151	T	C	99237151	3	2	264	1	0	0	0	0	1	0	0	0	9672	1696	59	3	2750	3	MMS19	10	99237151	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	881812	99237151	36297596	939	130457											
PYROXD2	84795	broad.mit.edu	37	chr10	100146994	100146994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagattctctccaaatctggTggtgtgaggatgtctctgcc	11	9	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:100146994T>C	uc001kpc.2	-	14	1604	c.1518A>G	c.(1516-1518)CCA>CCG	p.P506P	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	506							oxidoreductase activity			central_nervous_system(1)	1						CCAAATCTGGTGGTGTGAGGA	0.522													C	100146994	T	C	100146994	2	2	264	1	0	0	0	0	0	0	0	1	12867	1683	59	3		3	PYROXD2	10	100146994	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	909843	100146994	35387753	940	130458											
PYROXD2	84795	broad.mit.edu	37	chr10	100147054	100147054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggcatagacctcgatGcaatcaaacactggggtgcc	12	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:100147054G>A	uc001kpc.2	-	14	1544	c.1458C>T	c.(1456-1458)TGC>TGT	p.C486C	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	486							oxidoreductase activity			central_nervous_system(1)	1						AGACCTCGATGCAATCAAACA	0.418													A	100147054	G	A	100147054	2	1	264	1	0	0	0	0	0	0	0	1	12867	1311	46	2		2	PYROXD2	10	100147054	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	60	100147054	35387693	941	130459											
HPS1	3257	broad.mit.edu	37	chr10	100189343	100189343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacctgagctctgatcGccaggggaaggagctggtgt	14	11	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:100189343G>A	uc010qpf.1	-	10	1170	c.924C>T	c.(922-924)GGC>GGT	p.G308G	HPS1_uc001kpi.1_Silent_p.G308G|HPS1_uc001kpj.1_Silent_p.G215G|HPS1_uc001kpk.1_Silent_p.G188G|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Silent_p.G308G|HPS1_uc001kpl.2_Silent_p.G308G	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	308					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTCTGATCGCCAGGGGAAG	0.587									Hermansky-Pudlak_syndrome				A	100189343	G	A	100189343	2	1	264	1	0	0	0	0	0	0	0	1	7339	1074	38	1		1	HPS1	10	100189343	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	42289	100189343	35345404	942	130460											
GOT1	2805	broad.mit.edu	37	chr10	101163327	101163327	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgatcttctccatctgGgaaaggacttgcaggatgct	11	11	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:101163327G>T	uc001kpr.2	-	7	1066	c.858C>A	c.(856-858)TCC>TCA	p.S286S	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_5'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	286					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		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)	TCTCCATCTGGGAAAGGACTT	0.532													T	101163327	G	T	101163327	2	4	264	1	0	0	0	0	0	0	0	1	6579	1219	43	5		5	GOT1	10	101163327	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	973984	101163327	34371420	943	130461											
SEC31B	25956	broad.mit.edu	37	chr10	102257433	102257433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accacacttaccacagagctCgggaaatttctctgtgcctg	8	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102257433C>T	uc001krc.1	-	16	2083	c.1981G>A	c.(1981-1983)GAG>AAG	p.E661K	SEC31B_uc010qpo.1_Missense_Mutation_p.E660K|SEC31B_uc001krd.1_Missense_Mutation_p.E198K|SEC31B_uc001krf.1_Missense_Mutation_p.E198K|SEC31B_uc001kre.1_Missense_Mutation_p.E198K|SEC31B_uc001krg.1_Missense_Mutation_p.E230K	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	661					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCACAGAGCTCGGGAAATTTC	0.517													T	102257433	C	T	102257433	3	4	264	1	0	0	0	0	1	0	0	0	13999	893	31	1	1602	1	SEC31B	10	102257433	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1094106	102257433	33277314	944	130462											
FAM178A	55719	broad.mit.edu	37	chr10	102684424	102684424	+	Frame_Shift_Del	DEL	C	C	-													atggcactcctacaaagtctCcccctgctgctttggaagtt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102684423_102684423TC>T	uc001krs.3	+	4	2207	c.1665_1665TC>T	c.(1663-1665)tctfs	p.S555fs	FAM178A_uc001krr.1_Frame_Shift_Del_p.S555fs|FAM178A_uc001krt.4_Frame_Shift_Del_p.S555fs|FAM178A_uc001kru.1_Frame_Shift_Del_p.S490fs	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	555																	CTACAAAGTCTCCCCCTGCTG	0.473													-	102684424	C	-	102684424	7	5	264	1	0	1	0	1	0	0	0	0	5503	855	30	0	1684	0	FAM178A	10	102684424	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	426991	102684424	32850323	945	130463											
C10orf2	56652	broad.mit.edu	37	chr10	102748601	102748601	+	Frame_Shift_Del	DEL	G	G	-													tcttcccttggttctcccctGggggctcaggattacgaggc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102748600_102748600TG>T	uc001ksf.2	+	0	1308	c.633_633TG>T	c.(631-633)cctfs	p.P211fs	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Frame_Shift_Del_p.P211fs|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	211					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)		GGTTCTCCCCTGGGGGCTCAG	0.552													-	102748601	G	-	102748601	7	5	264	1	0	1	0	1	0	0	0	0	1597	1348	47	0	636	0	C10orf2	10	102748601	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	64177	102748601	32786146	946	130464											
LZTS2	84445	broad.mit.edu	37	chr10	102762432	102762432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggggccagctcctccccGccaccacggccctcctgggc	13	21	0	0	rs138910628		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102762432G>A	uc001ksj.2	+	2	206	c.137G>A	c.(136-138)CGC>CAC	p.R46H	LZTS2_uc010qpw.1_Missense_Mutation_p.R46H|LZTS2_uc001ksk.2_Missense_Mutation_p.R46H|LZTS2_uc001ksl.2_Missense_Mutation_p.R46H|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	46	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCTCCTCCCCGCCACCACGGC	0.687													A	102762432	G	A	102762432	3	1	264	1	0	0	0	0	1	0	0	0	9139	1087	38	1	139	1	LZTS2	10	102762432	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	13831	102762432	32772315	947	130465											
PPRC1	23082	broad.mit.edu	37	chr10	103901158	103901158	+	Frame_Shift_Del	DEL	C	C	-													cttgcagtgtgccttgggcaCcccctcctgccccagtctca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:103901157_103901157AC>A	uc001kum.3	+	4	2931	c.2892_2892AC>A	c.(2890-2892)gcafs	p.A964fs	PPRC1_uc001kun.3_Frame_Shift_Del_p.A844fs|PPRC1_uc010qqj.2_Frame_Shift_Del_p.A964fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	964	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide 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)		TGCCTTGGGCACCCCCTCCTG	0.612													-	103901158	C	-	103901158	7	5	264	1	0	1	0	1	0	0	0	0	12410	507	18	0	2911	0	PPRC1	10	103901158	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1138726	103901158	31633589	948	130466											
ELOVL3	83401	broad.mit.edu	37	chr10	103988245	103988245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggcctaaagcaaaccgTgtgcttcatcaacttcatcg	10	12	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:103988245T>C	uc001kut.2	+	3	468	c.305T>C	c.(304-306)GTG>GCG	p.V102A		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	elongation of very long chain fatty acids like	102					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			ovary(2)	2		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAGCAAACCGTGTGCTTCATC	0.488													C	103988245	T	C	103988245	3	2	264	1	0	0	0	0	1	0	0	0	5075	1696	59	3	315	3	ELOVL3	10	103988245	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	87087	103988245	31546502	949	130467											
PITX3	5309	broad.mit.edu	37	chr10	103991384	103991386	+	In_Frame_Del	DEL	CTC	CTC	-													aggttggtccacacggcgatCtcctcgcgcgtgctcatgtc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:103991384_103991386delCTC	uc001kuu.1	-	3	434_436	c.280_282delGAG	c.(280-282)GAGdel	p.E94del		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	94	Homeobox.				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACACGGCGATCTCCTCGCGCGTG	0.7													-	103991386	CTC	-	103991384	7	5	264	1	0	1	0	1	0	0	0	0	11956	912	32	0	634	0	PITX3	10	103991384	In_Frame_Del	DEL	CTC	TCGA-HU-A4G8-01A-11D-A25D-08	3139	103991384	31543363	950	130468											
ACTR1A	10121	broad.mit.edu	37	chr10	104241809	104241809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttagagaaaagcgtgcGccgcaggtccatgtctgact	12	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:104241809G>A	uc001kvv.2	-	8	982	c.874C>T	c.(874-876)CGC>TGC	p.R292C	ACTR1A_uc010qqn.1_Missense_Mutation_p.R218C|ACTR1A_uc010qqo.1_Missense_Mutation_p.R245C	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	292					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AAAAGCGTGCGCCGCAGGTCC	0.537													A	104241809	G	A	104241809	3	1	264	1	0	0	0	0	1	0	0	0	209	1087	38	1	272	1	ACTR1A	10	104241809	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	250425	104241809	31292938	951	130469											
PDCD11	22984	broad.mit.edu	37	chr10	105187133	105187133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcgaaccatcccggagcTgagtgttcggccaaggtgag	14	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:105187133T>C	uc001kwy.1	+	21	3440	c.3353T>C	c.(3352-3354)CTG>CCG	p.L1118P		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1118					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		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)		ATCCCGGAGCTGAGTGTTCGG	0.299													C	105187133	T	C	105187133	3	2	264	1	0	0	0	0	1	0	0	0	11617	1580	55	3	3431	3	PDCD11	10	105187133	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	945324	105187133	30347614	952	130470											
CCDC147	159686	broad.mit.edu	37	chr10	106121892	106121892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaacctgaccaaactagtgGagcaggggtctggactgtca	13	9	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:106121892G>A	uc001kyh.2	+	3	537	c.403G>A	c.(403-405)GAG>AAG	p.E135K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	135	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		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)		CAAACTAGTGGAGCAGGGGTC	0.478													A	106121892	G	A	106121892	3	1	264	1	0	0	0	0	1	0	0	0	2781	1175	41	4	413	4	CCDC147	10	106121892	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	934759	106121892	29412855	953	130471											
CCDC147	159686	broad.mit.edu	37	chr10	106160488	106160488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgttcggcgcaatgaTgagttagctttgctctatga	11	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:106160488T>C	uc001kyh.2	+	13	2000	c.1866T>C	c.(1864-1866)GAT>GAC	p.D622D		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	622										ovary(2)|central_nervous_system(2)|skin(1)	5		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)		GGCGCAATGATGAGTTAGCTT	0.502													C	106160488	T	C	106160488	2	2	264	1	0	0	0	0	0	0	0	1	2781	1461	51	3		3	CCDC147	10	106160488	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	38596	106160488	29374259	954	130472											
GPAM	57678	broad.mit.edu	37	chr10	113920602	113920602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcatcacaaagaagtcttCgaccaatgtggagagatcaa	8	8	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:113920602C>T	uc009xxy.1	-	16	1717	c.1519G>A	c.(1519-1521)GAA>AAA	p.E507K	GPAM_uc001kzp.2_Missense_Mutation_p.E507K|GPAM_uc001kzq.1_Missense_Mutation_p.E507K	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	507	Mitochondrial intermembrane (Potential).|Cytoplasmic (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		AAGAAGTCTTCGACCAATGTG	0.433													T	113920602	C	T	113920602	3	4	264	1	0	0	0	0	1	0	0	0	6588	893	31	1	995	1	GPAM	10	113920602	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7760114	113920602	21614145	955	130473											
ZDHHC6	64429	broad.mit.edu	37	chr10	114200317	114200317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaacaacatcccaacaGctatggttgttcctaaagct	5	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:114200317G>A	uc001kzv.2	-	5	1080	c.656C>T	c.(655-657)GCT>GTT	p.A219V	ZDHHC6_uc001kzw.2_Missense_Mutation_p.A215V|ZDHHC6_uc009xya.1_Missense_Mutation_p.A219V	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	219	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CATCCCAACAGCTATGGTTGT	0.433													A	114200317	G	A	114200317	3	1	264	1	0	0	0	0	1	0	0	0	17616	971	34	2	613	2	ZDHHC6	10	114200317	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	279715	114200317	21334430	956	130474											
TCF7L2	6934	broad.mit.edu	37	chr10	114925707	114925707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagccccagccgctgtcGctcgtcaccaagtctttaga	8	17	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:114925707G>A	uc001lae.3	+	14	2292	c.1785G>A	c.(1783-1785)TCG>TCA	p.S595S	TCF7L2_uc001lac.3_Silent_p.S589S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.S572S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.S572S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.S527S|TCF7L2_uc010qrs.1_Silent_p.S483S|TCF7L2_uc010qrt.1_Silent_p.S483S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	612					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGCCGCTGTCGCTCGTCACCA	0.552													A	114925707	G	A	114925707	2	1	264	1	0	0	0	0	0	0	0	1	15695	1074	38	1		1	TCF7L2	10	114925707	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	725390	114925707	20609040	957	130475											
TDRD1	56165	broad.mit.edu	37	chr10	115970683	115970683	+	Frame_Shift_Del	DEL	T	T	-													cagttgcctccacgctctgaTttttatccagccattggtga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:115970683delT	uc001lbg.1	+	13	1770	c.1617delT	c.(1615-1617)GATfs	p.D539fs	TDRD1_uc001lbf.2_Frame_Shift_Del_p.D530fs|TDRD1_uc001lbh.1_Frame_Shift_Del_p.D530fs|TDRD1_uc001lbi.1_Frame_Shift_Del_p.D530fs|TDRD1_uc010qsc.1_Frame_Shift_Del_p.D200fs|TDRD1_uc001lbj.2_Frame_Shift_Del_p.D248fs	NM_198795	NP_942090	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				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CACGCTCTGATTTTTATCCAG	0.348													-	115970683	T	-	115970683	7	5	264	1	0	1	0	1	0	0	0	0	15727	1490	52	0	1663	0	TDRD1	10	115970683	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1044976	115970683	19564064	958	130476											
GRK5	2869	broad.mit.edu	37	chr10	120967430	120967430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaccgccgactgtcaAtggagctggaaaacatcgtg	12	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:120967430A>G	uc001led.2	+	1	234	c.1A>G	c.(1-3)ATG>GTG	p.M1V	GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'Flank	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	1	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			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CCGACTGTCAATGGAGCTGGA	0.537													G	120967430	A	G	120967430	3	3	264	1	0	0	0	0	1	0	0	0	6792	101	4	3	3	3	GRK5	10	120967430	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	4996747	120967430	14567317	959	130477											
TACC2	10579	broad.mit.edu	37	chr10	123903223	123903223	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccaaggacctcagcaggTattgcgcaagtccccctcca	10	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:123903223T>C	uc001lfv.2	+	7	6194	c.5834_splice	c.e7+2	p.R1945_splice	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing							microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTCAGCAGGTATTGCGCAAG	0.617													C	123903223	T	C	123903223	5	2	264	1	0	0	0	0	0	0	1	0	15499	1652	57	3	5858	3	TACC2	10	123903223	Splice_Site	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2935793	123903223	11631524	960	130478											
ZRANB1	54764	broad.mit.edu	37	chr10	126631559	126631559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaaactgggccaaggCtaaaagatgtgttgtttgtg	12	4	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:126631559C>A	uc001lic.2	+	1	868	c.497C>A	c.(496-498)GCT>GAT	p.A166D	ZRANB1_uc010qug.1_Missense_Mutation_p.A192D	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	166	RanBP2-type 3.				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			ovary(1)|kidney(1)	2		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)		TGGGCCAAGGCTAAAAGATGT	0.393													A	126631559	C	A	126631559	3	1	264	1	0	0	0	0	1	0	0	0	18219	797	28	5	499	5	ZRANB1	10	126631559	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2728336	126631559	8903188	961	130479											
DHX32	55760	broad.mit.edu	37	chr10	127548316	127548316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtttatttttcacttcTatgacaggcacgtttccata	8	8	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:127548316T>C	uc001ljf.1	-	3	1196	c.705A>G	c.(703-705)ATA>ATG	p.I235M	DHX32_uc001ljg.1_Missense_Mutation_p.I235M|DHX32_uc009yam.1_Missense_Mutation_p.I71M	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	235	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTTCACTTCTATGACAGGCA	0.383													C	127548316	T	C	127548316	3	2	264	1	0	0	0	0	1	0	0	0	4505	1512	53	3	1562	3	DHX32	10	127548316	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	916757	127548316	7986431	962	130480											
MKI67	4288	broad.mit.edu	37	chr10	129913862	129913862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactttctttctctgttgcGtaatcagtttgtaatccaga	7	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:129913862G>A	uc001lke.2	-	7	1005	c.810C>T	c.(808-810)TAC>TAT	p.Y270Y	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	270					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TCTCTGTTGCGTAATCAGTTT	0.428													A	129913862	G	A	129913862	2	1	264	1	0	0	0	0	0	0	0	1	9598	1140	40	1		1	MKI67	10	129913862	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2365546	129913862	5620885	963	130481											
EBF3	253738	broad.mit.edu	37	chr10	131671783	131671783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcccgcctcccgtgtttGgaattgttgtgcacaaacat	11	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:131671783G>A	uc001lki.1	-	8	773	c.714C>T	c.(712-714)TCC>TCT	p.S238S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	238	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		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)		TCCCGTGTTTGGAATTGTTGT	0.502													A	131671783	G	A	131671783	2	1	264	1	0	0	0	0	0	0	0	1	4882	1335	47	4		4	EBF3	10	131671783	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1757921	131671783	3862964	964	130482											
CYP2E1	1571	broad.mit.edu	37	chr10	135342020	135342020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccggtgttcacgctgtaCgtgggctcgcagcgcatggt	17	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:135342020C>T	uc001lnj.1	+	2	246	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y	CYP2E1_uc001lnk.1_Intron|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_Intron	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	71					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			central_nervous_system(3)	3		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)	TCACGCTGTACGTGGGCTCGC	0.677									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				T	135342020	C	T	135342020	2	4	264	1	0	0	0	0	0	0	0	1	4170	547	19	1		1	CYP2E1	10	135342020	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3670237	135342020	192727	965	130483											
ATHL1	80162	broad.mit.edu	37	chr11	292902	292902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggacctgcagctatttcGagaggctggtggctgggacg	16	10	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:292902G>A	uc010qvu.1	+	7	1290	c.1175G>A	c.(1174-1176)CGA>CAA	p.R392Q	ATHL1_uc001lor.3_Missense_Mutation_p.R215Q|ATHL1_uc001los.1_Missense_Mutation_p.R392Q|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	392					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCTATTTCGAGAGGCTGGT	0.622													A	292902	G	A	292902	3	1	264	1	0	0	0	0	1	0	0	0	1104	1058	37	1	1197	1	ATHL1	11	292902	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08		292902	134713614	966	130484											
B4GALNT4	338707	broad.mit.edu	37	chr11	375712	375712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacgtgggggggcgtccGccgcaggaggagaccagcgc	19	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:375712G>A	uc001lpb.2	+	10	933	c.924G>A	c.(922-924)CCG>CCA	p.P308P		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	308	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		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)		GGGGGCGTCCGCCGCAGGAGG	0.547													A	375712	G	A	375712	2	1	264	1	0	0	0	0	0	0	0	1	1269	1074	38	1		1	B4GALNT4	11	375712	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	82810	375712	134630804	967	130485											
B4GALNT4	338707	broad.mit.edu	37	chr11	379925	379925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggctgcgctgcacgcgCgcaccggggactcgcgtttc	14	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:379925C>T	uc001lpb.2	+	16	2557	c.2548C>T	c.(2548-2550)CGC>TGC	p.R850C		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	850	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		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													T	379925	C	T	379925	3	4	264	1	0	0	0	0	1	0	0	0	1269	768	27	1	2610	1	B4GALNT4	11	379925	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4213	379925	134626591	968	130486											
DEAF1	10522	broad.mit.edu	37	chr11	644595	644595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagccacgtggacttcGtctgcctggacggtgacagc	12	13	2	1	rs142320326		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:644595G>A	uc001lqq.1	-	12	2346	c.1653C>T	c.(1651-1653)GAC>GAT	p.D551D	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	551					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|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		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)		CGTGGACTTCGTCTGCCTGGA	0.622													A	644595	G	A	644595	2	1	264	1	0	0	0	0	0	0	0	1	4380	1136	40	1		1	DEAF1	11	644595	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	264670	644595	134361921	969	130487											
MUC2	4583	broad.mit.edu	37	chr11	1096474	1096474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgacaactaccactgcgatCccaacgacaaggtgtcctgt	8	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:1096474C>T	uc001lsx.1	+	37	13612	c.13585C>T	c.(13585-13587)CCC>TCC	p.P4529S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4529	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	CCACTGCGATCCCAACGACAA	0.582													T	1096474	C	T	1096474	3	4	264	1	0	0	0	0	1	0	0	0	9975	855	30	4	6625	4	MUC2	11	1096474	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	451879	1096474	133910042	970	130488											
CD81	975	broad.mit.edu	37	chr11	2417910	2417910	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggaagctgtacctcaTcggcattgctgccatcgtgg	12	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:2417910T>A	uc001lwf.1	+	7	847	c.614T>A	c.(613-615)ATC>AAC	p.I205N	CD81_uc001lwg.1_Missense_Mutation_p.I198N|CD81_uc001lwh.1_RNA	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	205	Helical; (Potential).				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				0		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)		CTGTACCTCATCGGCATTGCT	0.677													A	2417910	T	A	2417910	3	1	264	1	0	0	0	0	1	0	0	0	3039	1435	50	5	640	5	CD81	11	2417910	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1321436	2417910	132588606	971	130489											
OR52I1	390037	broad.mit.edu	37	chr11	4615541	4615541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgagcatcttctgctcGggagacagctccatcagctt	11	11	3	2	rs140688996	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:4615541G>A	uc010qyi.1	+	1	273	c.273G>A	c.(271-273)TCG>TCA	p.S91S		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		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)		TCTTCTGCTCGGGAGACAGCT	0.522													A	4615541	G	A	4615541	2	1	264	1	0	0	0	0	0	0	0	1	11120	1103	39	1		1	OR52I1	11	4615541	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2197631	4615541	130390975	972	130490											
UBQLN3	50613	broad.mit.edu	37	chr11	5529402	5529402	+	Frame_Shift_Del	DEL	A	A	-													aggaatggctgccgtgggggAaaaagataagggagcaaatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5529401_5529401GA>G	uc021qcw.1	-	0	1388	c.1388_1388TC>C	c.(1387-1389)tccfs	p.S463fs	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Frame_Shift_Del_p.S463fs	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	463										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)		TGCCGTGGGGGAAAAAGATAA	0.552													-	5529402	A	-	5529402	7	5	264	1	0	1	0	1	0	0	0	0	16895	246	9	0	584	0	UBQLN3	11	5529402	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	913861	5529402	129477114	973	130491											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5624931	5624931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaccgtggtcaccacaCgttcctcgtggaggaggttg	15	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5624931C>T	uc001mbf.2	+	2	717	c.473C>T	c.(472-474)ACG>ATG	p.T158M	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.T104M|TRIM6_uc010qzj.1_Translation_Start_Site|TRIM6_uc001mbc.1_Missense_Mutation_p.T130M|TRIM6_uc001mbe.2_Translation_Start_Site|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.T158M|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	158						intracellular	zinc ion binding			ovary(1)	1		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)		GGTCACCACACGTTCCTCGTG	0.532													T	5624931	C	T	5624931	3	4	264	1	0	0	0	0	1	0	0	0	16531	536	19	1	479	1	TRIM6-TRIM34	11	5624931	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	95529	5624931	129381585	974	130492											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5653607	5653608	+	Frame_Shift_Ins	INS	-	-	C													acaagaggaggtgacctgtcINSccatctgcctggagctgttg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5653606_5653607T>TC	uc001mbh.3	+	1	202_203	c.45_46T>TC	c.(43-48)tgtcccfs	p.C15fs	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Frame_Shift_Ins_p.C369fs|TRIM6-TRIM34_uc001mbi.3_Frame_Shift_Ins_p.C15fs|TRIM6-TRIM34_uc001mbj.3_Frame_Shift_Ins_p.C15fs	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	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)		AGGTGACCTGTCCCATCTGCCT	0.54													C	5653608	-	C	5653607	7	5	264	1	0	1	1	0	0	0	0	0	16531	855	30	0	1138	0	TRIM6-TRIM34	11	5653607	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	28676	5653607	129352909	975	130493											
OR52N2	390077	broad.mit.edu	37	chr11	5841962	5841962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatctgctaccccttaCgctatgccaccatccttacc	5	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5841962C>T	uc010qzp.1	+	1	397	c.397C>T	c.(397-399)CGC>TGC	p.R133C	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		CTACCCCTTACGCTATGCCAC	0.542													T	5841962	C	T	5841962	3	4	264	1	0	0	0	0	1	0	0	0	11128	536	19	1	399	1	OR52N2	11	5841962	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	188355	5841962	129164554	976	130494											
C11orf42	160298	broad.mit.edu	37	chr11	6231118	6231118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaatgcagtagcagtAcctttcctgtcagatgcagc	11	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:6231118A>G	uc001mcj.2	+	2	159	c.111A>G	c.(109-111)GTA>GTG	p.V37V		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	37										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTAGCAGTACCTTTCCTGT	0.562													G	6231118	A	G	6231118	2	3	264	1	0	0	0	0	0	0	0	1	1641	378	14	3		3	C11orf42	11	6231118	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	389156	6231118	128775398	977	130495											
FAM160A2	84067	broad.mit.edu	37	chr11	6232863	6232863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccttgagaaattcagggAaaatgactgcacagtagaca	9	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:6232863A>G	uc001mcl.3	-	12	3151	c.2792T>C	c.(2791-2793)TTC>TCC	p.F931S	FAM160A2_uc001mck.3_Missense_Mutation_p.F945S	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	931					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AAATTCAGGGAAAATGACTGC	0.562													G	6232863	A	G	6232863	3	3	264	1	0	0	0	0	1	0	0	0	5469	246	9	3	130	3	FAM160A2	11	6232863	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1745	6232863	128773653	978	130496											
DENND5A	23258	broad.mit.edu	37	chr11	9225343	9225343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattggtacttggtctctgGcagattattggcccatagac	10	9	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:9225343G>A	uc001mhl.2	-	4	1068	c.813C>T	c.(811-813)TGC>TGT	p.C271C	DENND5A_uc010rbw.1_Silent_p.C271C|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	271	DENN.									liver(1)	1						TTGGTCTCTGGCAGATTATTG	0.493													A	9225343	G	A	9225343	2	1	264	1	0	0	0	0	0	0	0	1	4436	1195	42	2		2	DENND5A	11	9225343	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2992480	9225343	125781173	979	130497											
AMPD3	272	broad.mit.edu	37	chr11	10521642	10521642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcccaggtgacggggTttgacagcgtggatgatgag	16	9	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:10521642T>C	uc001mio.1	+	11	1902	c.1567T>C	c.(1567-1569)TTT>CTT	p.F523L	AMPD3_uc010rbz.1_Missense_Mutation_p.F364L|AMPD3_uc001min.1_Missense_Mutation_p.F532L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.F530L|AMPD3_uc009yfy.2_Missense_Mutation_p.F523L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	523					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGTGACGGGGTTTGACAGCGT	0.607													C	10521642	T	C	10521642	3	2	264	1	0	0	0	0	1	0	0	0	587	1725	60	3	1656	3	AMPD3	11	10521642	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1296299	10521642	124484874	980	130498											
CTR9	9646	broad.mit.edu	37	chr11	10786257	10786257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtataaaaacatcttacgcGaacatcctaattatgttgac	5	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:10786257G>A	uc001mja.2	+	12	1725	c.1576G>A	c.(1576-1578)GAA>AAA	p.E526K		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	526	TPR 10.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCTTACGCGAACATCCTAA	0.358													A	10786257	G	A	10786257	3	1	264	1	0	0	0	0	1	0	0	0	4024	1059	37	1	1622	1	CTR9	11	10786257	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	264615	10786257	124220259	981	130499											
GALNTL4	374378	broad.mit.edu	37	chr11	11454168	11454168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagctccgacactcacCgttactgctgttgtcatcca	9	13	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:11454168C>T	uc001mjo.2	-	3	1016	c.595G>A	c.(595-597)GAG>AAG	p.E199K		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	199	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CGACACTCACCGTTACTGCTG	0.572													T	11454168	C	T	11454168	3	4	264	1	0	0	0	0	1	0	0	0	6223	666	23	1	1264	1	GALNTL4	11	11454168	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	667911	11454168	123552348	982	130500											
CALCA	796	broad.mit.edu	37	chr11	14989262	14989262	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcttgaaggtccctgcgGcgcctgccaaaggctttgga	14	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:14989262G>T	uc001mlt.1	-	4	441	c.366C>A	c.(364-366)CGC>CGA	p.R122R	CALCA_uc001mlu.1_RNA	NM_001033953	NP_001029125	P06881	CALCA_HUMAN	calcitonin isoform CGRP preproprotein	122					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)	1					Phentolamine(DB00692)	GGTCCCTGCGGCGCCTGCCAA	0.537													T	14989262	G	T	14989262	2	4	264	1	0	0	0	0	0	0	0	1	2575	1190	42	5		5	CALCA	11	14989262	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3535094	14989262	120017254	983	130501											
PLEKHA7	144100	broad.mit.edu	37	chr11	16838609	16838609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgggcgctgtggggctgCcgtgccggaactgctggcgc	19	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:16838609C>T	uc001mmo.2	-	11	1619	c.1604G>A	c.(1603-1605)GGC>GAC	p.G535D	PLEKHA7_uc010rcu.1_Missense_Mutation_p.G535D|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G109D|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G243D	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	535					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TGTGGGGCTGCCGTGCCGGAA	0.677													T	16838609	C	T	16838609	3	4	264	1	0	0	0	0	1	0	0	0	12061	739	26	2	1813	2	PLEKHA7	11	16838609	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1849347	16838609	118167907	984	130502											
NUCB2	4925	broad.mit.edu	37	chr11	17332466	17332466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggagagaatatttaaAaacattgaatgaagaaaaga	9	1	0	6			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:17332466A>G	uc001mmw.2	+	7	823	c.578A>G	c.(577-579)AAA>AGA	p.K193R	NUCB2_uc001mms.1_Missense_Mutation_p.K194R|NUCB2_uc001mmt.1_Missense_Mutation_p.K193R|NUCB2_uc001mmv.1_Missense_Mutation_p.K193R|NUCB2_uc009ygz.2_Missense_Mutation_p.K193R	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	193	By similarity.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0						GAATATTTAAAAACATTGAAT	0.308													G	17332466	A	G	17332466	3	3	264	1	0	0	0	0	1	0	0	0	10719	14	1	3	596	3	NUCB2	11	17332466	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	493857	17332466	117674050	985	130503											
ABCC8	6833	broad.mit.edu	37	chr11	17432160	17432160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgccggcctgcattaagTggtcactcagatggatatcc	12	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:17432160T>C	uc001mnc.2	-	22	2723	c.2597A>G	c.(2596-2598)CAC>CGC	p.H866R		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	866	ABC transporter 1.|Cytoplasmic (By similarity).				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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCATTAAGTGGTCACTCAG	0.572													C	17432160	T	C	17432160	3	2	264	1	0	0	0	0	1	0	0	0	58	1696	59	3	2220	3	ABCC8	11	17432160	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	99694	17432160	117574356	986	130504											
SAA4	6291	broad.mit.edu	37	chr11	18253958	18253958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgatgagtttagcagCccagacacccccaggtcctc	8	15	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:18253958C>T	uc001mny.2	-	3	310	c.214G>A	c.(214-216)GCT>ACT	p.A72T		NM_006512	NP_006503	P35542	SAA4_HUMAN	serum amyloid A4, constitutive precursor	72					acute-phase response	high-density lipoprotein particle					0						AGTTTAGCAGCCCAGACACCC	0.498													T	18253958	C	T	18253958	3	4	264	1	0	0	0	0	1	0	0	0	13800	739	26	2	186	2	SAA4	11	18253958	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	821798	18253958	116752558	987	130505											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955874	18955874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccactccaggatgctcCgcagcagggacagggcccag	12	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:18955874C>T	uc001mpg.2	-	1	676	c.458G>A	c.(457-459)CGG>CAG	p.R153Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	153	Helical; Name=4; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						CAGGATGCTCCGCAGCAGGGA	0.582													T	18955874	C	T	18955874	3	4	264	1	0	0	0	0	1	0	0	0	9766	652	23	1	514	1	MRGPRX1	11	18955874	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	701916	18955874	116050642	988	130506											
NELL1	4745	broad.mit.edu	37	chr11	20691304	20691304	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gattttagttgtgtggttctGtgtgtgcactgccaggacag	14	6	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:20691304G>C	uc001mqe.2	+	1	188	c.35G>C	c.(34-36)TGT>TCT	p.C12S	NELL1_uc001mqf.2_Missense_Mutation_p.C12S|NELL1_uc009yid.2_Missense_Mutation_p.C12S|NELL1_uc010rdo.1_Missense_Mutation_p.C12S|NELL1_uc010rdp.1_5'UTR	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	12					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTGTGGTTCTGTGTGTGCACT	0.602													C	20691304	G	C	20691304	3	2	264	1	0	0	0	0	1	0	0	0	10333	1377	48	5	37	5	NELL1	11	20691304	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1735430	20691304	114315212	989	130507											
KCNA4	3739	broad.mit.edu	37	chr11	30034022	30034022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggaggtacaggccccGcgtgactggtggtggtggtg	19	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:30034022G>A	uc001msk.2	-	2	1356	c.204C>T	c.(202-204)CGC>CGT	p.R68R		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	68						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R68G(1)		ovary(2)|central_nervous_system(1)|pancreas(1)	4						TACAGGCCCCGCGTGACTGGT	0.657													A	30034022	G	A	30034022	2	1	264	1	0	0	0	0	0	0	0	1	8005	1074	38	1		1	KCNA4	11	30034022	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9342718	30034022	104972494	990	130508											
IMMP1L	196294	broad.mit.edu	37	chr11	31477838	31477838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaagaaatctgatggaCtagtggtgaggattttgtct	11	3	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:31477838C>A	uc001msy.1	-	5	486	c.290G>T	c.(289-291)AGT>ATT	p.S97I	IMMP1L_uc001msz.1_Missense_Mutation_p.S97I|IMMP1L_uc009yjo.2_Missense_Mutation_p.S97I|IMMP1L_uc009yjp.2_RNA	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	97					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					ATCTGATGGACTAGTGGTGAG	0.323													A	31477838	C	A	31477838	3	1	264	1	0	0	0	0	1	0	0	0	7716	565	20	5	222	5	IMMP1L	11	31477838	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1443816	31477838	103528678	991	130509											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:31812316_31812316TG>T	uc009yjr.3	-	11	1594	c.1125_1125CA>A	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				-	31812317	G	-	31812317	7	5	264	1	0	1	0	1	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	334479	31812317	103194199	992	130510											
TCP11L1	55346	broad.mit.edu	37	chr11	33090338	33090338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcccttcaccacggacaaGgagaccgtgctcaagggcca	10	15	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:33090338G>T	uc001mud.2	+	9	1660	c.1260G>T	c.(1258-1260)AAG>AAT	p.K420N	TCP11L1_uc009yju.2_Missense_Mutation_p.K235N|TCP11L1_uc010rei.1_Missense_Mutation_p.K420N|TCP11L1_uc001mue.2_Missense_Mutation_p.K420N|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	420											0						CCACGGACAAGGAGACCGTGC	0.617													T	33090338	G	T	33090338	3	4	264	1	0	0	0	0	1	0	0	0	15711	991	35	5	1290	5	TCP11L1	11	33090338	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1278021	33090338	101916178	993	130511											
CSTF3	1479	broad.mit.edu	37	chr11	33106722	33106722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatcttcatctgaatcctCgttgggccttttgacggcct	8	12	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:33106722C>T	uc001muh.2	-	21	2231	c.2065G>A	c.(2065-2067)GAG>AAG	p.E689K	TCP11L1_uc001muf.1_RNA	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	689					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						TCTGAATCCTCGTTGGGCCTT	0.527													T	33106722	C	T	33106722	3	4	264	1	0	0	0	0	1	0	0	0	3986	893	31	1	92	1	CSTF3	11	33106722	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	16384	33106722	101899794	994	130512											
HIPK3	10114	broad.mit.edu	37	chr11	33370344	33370344	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgatgaggaagagacttcCcagagacattcactcagaga	10	9	2	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:33370344C>A	uc001mul.1	+	13	2916	c.2646C>A	c.(2644-2646)TCC>TCA	p.S882S	HIPK3_uc001mum.1_Silent_p.S861S|HIPK3_uc009yjv.1_Silent_p.S861S	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	882	SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).|Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						AAGAGACTTCCCAGAGACATT	0.463													A	33370344	C	A	33370344	2	1	264	1	0	0	0	0	0	0	0	1	7118	610	22	5		5	HIPK3	11	33370344	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	263622	33370344	101636172	995	130513											
RAG2	5897	broad.mit.edu	37	chr11	36614223	36614223	+	Frame_Shift_Del	DEL	T	T	-													ggagggatttcattggaggcTtttttaagggtaggactctt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:36614222_36614222CT>C	uc021qge.1	-	0	1497	c.1497_1497AG>G	c.(1495-1497)aagfs	p.K499fs	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Frame_Shift_Del_p.K499fs|RAG2_uc021qgd.1_Frame_Shift_Del_p.K499fs|RAG2_uc001mwv.4_Frame_Shift_Del_p.K499fs|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	499					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin 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	p.K499fs*4(1)		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)				TCATTGGAGGCTTTTTTAAGG	0.418									Familial Hemophagocytic Lymphohistiocytosis				-	36614223	T	-	36614223	7	5	264	1	0	1	0	1	0	0	0	0	13005	1609	56	0	91	0	RAG2	11	36614223	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	3243879	36614223	98392293	996	130514											
EXT2	2132	broad.mit.edu	37	chr11	44219525	44219525	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgcccagtctatccaaActacttgtcgtctggaataa	8	10	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:44219525A>G	uc001mxz.2	+	9	1786	c.1452A>G	c.(1450-1452)AAA>AAG	p.K484K	EXT2_uc010rfo.1_Silent_p.K512K|EXT2_uc001mxy.2_Silent_p.K497K|EXT2_uc009ykt.2_Silent_p.K494K|EXT2_uc001mya.2_Silent_p.K517K	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	484	Lumenal (Potential).				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			lung(2)|breast(2)|skin(1)	5						GTCTATCCAAACTACTTGTCG	0.478			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				G	44219525	A	G	44219525	2	3	264	1	0	0	0	0	0	0	0	1	5324	40	2	3		3	EXT2	11	44219525	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	7605302	44219525	90786991	997	130515											
TP53I11	9537	broad.mit.edu	37	chr11	44959882	44959882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgggggctgcttggccGccatcttctcctccagcccg	14	16	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:44959882G>A	uc001myi.2	-	5	610	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TP53I11_uc001myf.1_RNA|TP53I11_uc001myj.2_Missense_Mutation_p.A2V|TP53I11_uc001myk.2_Missense_Mutation_p.A2V|TP53I11_uc001myl.2_Missense_Mutation_p.A2V|TP53I11_uc001mym.2_5'UTR	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	2	Cytoplasmic (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						CTGCTTGGCCGCCATCTTCTC	0.667													A	44959882	G	A	44959882	3	1	264	1	0	0	0	0	1	0	0	0	16382	1087	38	1	588	1	TP53I11	11	44959882	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	740357	44959882	90046634	998	130516											
LRP4	4038	broad.mit.edu	37	chr11	46900582	46900582	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattctccatagcacatggTgtagacactgggtagagagg	12	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:46900582T>C	uc001ndn.3	-	22	3158	c.3012A>G	c.(3010-3012)ACA>ACG	p.T1004T		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1004	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TAGCACATGGTGTAGACACTG	0.582													C	46900582	T	C	46900582	2	2	264	1	0	0	0	0	0	0	0	1	8959	1683	59	3		3	LRP4	11	46900582	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1940700	46900582	88105934	999	130517											
DDB2	1643	broad.mit.edu	37	chr11	47256210	47256210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgatcctgctgaacaTggacggcaaagaggtgcgtt	14	8	0	3	rs139325563	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:47256210T>C	uc001neb.2	+	5	884	c.689T>C	c.(688-690)ATG>ACG	p.M230T	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.M166T|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.M89T|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	230					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						CTGCTGAACATGGACGGCAAA	0.572			Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				C	47256210	T	C	47256210	3	2	264	1	0	0	0	0	1	0	0	0	4324	1464	51	3	707	3	DDB2	11	47256210	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	355628	47256210	87750306	1000	130518											
KBTBD4	55709	broad.mit.edu	37	chr11	47597166	47597167	+	Frame_Shift_Del	DEL	CT	CT	-													ttcaagcttgtcctgagtgaCtctgcaaaagcctctctttc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:47597165_47597166ACT>A	uc001nfx.3	-	2	846_847	c.675_676AGT>T	c.(673-678)gagtcafs	p.E225fs	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Frame_Shift_Del_p.E250fs|KBTBD4_uc001nfz.3_Frame_Shift_Del_p.E241fs|KBTBD4_uc001nfy.3_Frame_Shift_Del_p.E225fs	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	225	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						GTCCTGAGTGACTCTGCAAAAG	0.426													-	47597167	CT	-	47597166	7	5	264	1	0	1	0	1	0	0	0	0	7995	564	20	0	889	0	KBTBD4	11	47597166	Frame_Shift_Del	DEL	CT	TCGA-HU-A4G8-01A-11D-A25D-08	340956	47597166	87409350	1001	130519											
OR4C13	283092	broad.mit.edu	37	chr11	49974149	49974149	+	Frame_Shift_Del	DEL	T	T	-													cactgagatcccccatgtacTttttcctggcctatctctcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:49974148_49974148CT>C	uc010rhz.2	+	0	206	c.174_174CT>C	c.(172-174)tacfs	p.Y58fs		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	58					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						CCCCCATGTACTTTTTCCTGG	0.423													-	49974149	T	-	49974149	7	5	264	1	0	1	0	1	0	0	0	0	11047	1609	56	0	177	0	OR4C13	11	49974149	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	2376983	49974149	85032367	1002	130520											
OR5F1	338674	broad.mit.edu	37	chr11	55761382	55761382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcaggtgagaggcacaCgtggagaaagctctgtgcct	15	9	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:55761382C>T	uc010riv.1	-	1	720	c.720G>A	c.(718-720)ACG>ACA	p.T240T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GAGAGGCACACGTGGAGAAAG	0.502													T	55761382	C	T	55761382	2	4	264	1	0	0	0	0	0	0	0	1	11158	523	19	1		1	OR5F1	11	55761382	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5787233	55761382	79245134	1003	130521											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087895	57087895	+	Frame_Shift_Del	DEL	G	G	-													atcgagctgggggtgtcaaaGggggtggctcctctttccca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:57087894_57087894AG>A	uc001njr.3	-	1	699	c.387_387CT>T	c.(385-387)cctfs	p.P129fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.P129fs|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	129	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)				GGGGTGTCAAAGGGGGTGGCT	0.657													-	57087895	G	-	57087895	7	5	264	1	0	1	0	1	0	0	0	0	16317	1000	35	0	4839	0	TNKS1BP1	11	57087895	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	1326513	57087895	77918621	1004	130522											
OR1S1	219959	broad.mit.edu	37	chr11	57983027	57983027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacggaaccattgtaggcGtgtactttttcccctcctcc	7	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:57983027G>A	uc010rkc.1	+	1	811	c.811G>A	c.(811-813)GTG>ATG	p.V271M		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	271	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				CATTGTAGGCGTGTACTTTTT	0.483													A	57983027	G	A	57983027	3	1	264	1	0	0	0	0	1	0	0	0	10972	1145	40	1	813	1	OR1S1	11	57983027	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	895132	57983027	77023489	1005	130523											
OR5B12	390191	broad.mit.edu	37	chr11	58207416	58207416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgacagctgaggaataaCcaaagtccaccagggagagg	14	8	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:58207416C>T	uc010rkh.1	-	1	209	c.209G>A	c.(208-210)GGT>GAT	p.G70D		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGAATAACCAAAGTCCAC	0.458													T	58207416	C	T	58207416	3	4	264	1	0	0	0	0	1	0	0	0	11148	507	18	4	739	4	OR5B12	11	58207416	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	224389	58207416	76799100	1006	130524											
GIF	2694	broad.mit.edu	37	chr11	59603317	59603319	+	In_Frame_Del	DEL	ACA	ACA	-													tgcgctgtgcttcctctaggAcaacaagtaacactgaccca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:59603317_59603319delACA	uc001noi.2	-	7	1083_1085	c.1035_1037delTGT	c.(1033-1038)GTTGTC>GTC	p.345_346VV>V		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	345_346					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						TTCCTCTAGGACAACAAGTAACA	0.414													-	59603319	ACA	-	59603317	7	5	264	1	0	1	0	1	0	0	0	0	6376	275	10	0	228	0	GIF	11	59603317	In_Frame_Del	DEL	ACA	TCGA-HU-A4G8-01A-11D-A25D-08	1395901	59603317	75403199	1007	130525											
MS4A6E	245802	broad.mit.edu	37	chr11	60105316	60105316	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattaaatcctgcctcattgCagtgtaagttggacgaaaag	9	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:60105316C>T	uc001npd.2	+	2	264	c.250C>T	c.(250-252)CAG>TAG	p.Q84*		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	84	Extracellular (Potential).					integral to membrane	receptor activity				0						TGCCTCATTGCAGTGTAAGTT	0.478													T	60105316	C	T	60105316	4	4	264	1	0	0	0	0	0	1	0	0	9865	711	25	2	256	2	MS4A6E	11	60105316	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	501999	60105316	74901200	1008	130526											
TMEM132A	54972	broad.mit.edu	37	chr11	60701145	60701145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggcccccctgctaccGctgcgtatcgagctcaccga	12	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:60701145G>A	uc001nqj.2	+	8	1681	c.1488G>A	c.(1486-1488)CCG>CCA	p.P496P	TMEM132A_uc001nqi.2_Silent_p.P497P|TMEM132A_uc001nqk.2_Silent_p.P509P|TMEM132A_uc001nql.1_3'UTR|TMEM132A_uc001nqm.2_5'Flank	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	496	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CCCTGCTACCGCTGCGTATCG	0.721													A	60701145	G	A	60701145	2	1	264	1	0	0	0	0	0	0	0	1	16042	1074	38	1		1	TMEM132A	11	60701145	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	595829	60701145	74305371	1009	130527											
SYT7	9066	broad.mit.edu	37	chr11	61295633	61295633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgcaaccctcgtgggcctCatcctcctcggagcctgggg	13	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:61295633C>T	uc001nrv.2	-	5	382	c.376G>A	c.(376-378)GAG>AAG	p.E126K	SYT7_uc009ynr.2_Missense_Mutation_p.E201K	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	126	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						TCGTGGGCCTCATCCTCCTCG	0.647													T	61295633	C	T	61295633	3	4	264	1	0	0	0	0	1	0	0	0	15476	835	29	4	855	4	SYT7	11	61295633	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	594488	61295633	73710883	1010	130528											
FADS1	3992	broad.mit.edu	37	chr11	61584071	61584071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgacccgggagccccCtggatgccggcgggtgaact	16	13	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:61584071C>A	uc010rlm.1	-	1	459	c.331G>T	c.(331-333)GGG>TGG	p.G111W	FADS2_uc001nsj.2_Intron|FADS2_uc010rlo.1_Missense_Mutation_p.P6H|FADS1_uc010rln.1_5'Flank|MIR1908_hsa-mir-1908|MI0008329_5'Flank	NM_013402	NP_037534	O60427	FADS1_HUMAN	fatty acid desaturase 1	54	Cytoplasmic (Potential).|Cytochrome b5 heme-binding.				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)	1					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGGGAGCCCCCTGGATGCCGG	0.692													A	61584071	C	A	61584071	3	1	264	1	0	0	0	0	1	0	0	0	5365	681	24	5	1222	5	FADS1	11	61584071	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	288438	61584071	73422445	1011	130529											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455497	62455497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctggggcacgcggcTtgccccggcctcgttagcgg	15	16	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:62455497T>G	uc001nun.2	-	2	791	c.484A>C	c.(484-486)AGC>CGC	p.S162R		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	162	Fibronectin type-III.|Extracellular (Potential).					integral to membrane					0						GGCACGCGGCTTGCCCCGGCC	0.697													G	62455497	T	G	62455497	3	3	264	1	0	0	0	0	1	0	0	0	9038	1609	56	5	236	5	LRRN4CL	11	62455497	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	871426	62455497	72551019	1012	130530											
TAF6L	10629	broad.mit.edu	37	chr11	62545464	62545464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggctgtgtgtggttaCggatcacaggaggcactgcc	14	11	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:62545464C>T	uc001nvc.2	+	4	350	c.249C>T	c.(247-249)TAC>TAT	p.Y83Y	TAF6L_uc010rmg.1_Silent_p.Y83Y|TAF6L_uc009yof.2_Silent_p.Y83Y	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	83					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						TGTGTGGTTACGGATCACAGG	0.602													T	62545464	C	T	62545464	2	4	264	1	0	0	0	0	0	0	0	1	15528	547	19	1		1	TAF6L	11	62545464	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	89967	62545464	72461052	1013	130531											
SLC22A11	55867	broad.mit.edu	37	chr11	64323838	64323838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtctatgaccgcagcGtcttcacctccaccatcgtg	10	15	3	1	rs150061096		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64323838G>A	uc001oai.2	+	1	741	c.367G>A	c.(367-369)GTC>ATC	p.V123I	SLC22A11_uc001oah.1_Missense_Mutation_p.V123I|SLC22A11_uc001oaj.2_Missense_Mutation_p.V123I|SLC22A11_uc009ypq.2_Missense_Mutation_p.V123I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	123	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TGACCGCAGCGTCTTCACCTC	0.632													A	64323838	G	A	64323838	3	1	264	1	0	0	0	0	1	0	0	0	14442	1145	40	1	369	1	SLC22A11	11	64323838	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1778374	64323838	70682678	1014	130532											
SF1	7536	broad.mit.edu	37	chr11	64537024	64537024	+	Frame_Shift_Del	DEL	C	C	-													ccttctttcacagaccctttCccccggatcataatcttggc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64537023_64537023TC>T	uc001obb.2	-	5	990	c.538_538GA>A	c.(538-540)aaafs	p.K180fs	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Frame_Shift_Del_p.K154fs|SF1_uc001oaz.2_Frame_Shift_Del_p.K305fs|SF1_uc001oba.2_Frame_Shift_Del_p.K180fs|SF1_uc001obd.2_Frame_Shift_Del_p.K180fs|SF1_uc001obc.2_Frame_Shift_Del_p.K180fs|SF1_uc001obe.2_Frame_Shift_Del_p.K65fs|SF1_uc010rno.2_Frame_Shift_Del_p.K65fs	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	180	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein 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						ACAGACCCTTTCCCCCGGATC	0.473													-	64537024	C	-	64537024	7	5	264	1	0	1	0	1	0	0	0	0	14145	842	30	0	1552	0	SF1	11	64537024	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	213186	64537024	70469492	1015	130533											
MEN1	4221	broad.mit.edu	37	chr11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-													gacagtcccaggaggcttccGggggggtcctgacactgcac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64572092_64572092CG>C	uc001obj.3	-	9	1635	c.1562_1562CG>G	c.(1561-1563)cggfs	p.R521fs	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obl.3_Frame_Shift_Del_p.R481fs|MEN1_uc001obm.3_Frame_Shift_Del_p.R516fs|MEN1_uc001obn.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obo.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obq.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obr.3_Frame_Shift_Del_p.R521fs	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	521					DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|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 UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.R516fs*15(3)		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						AGGAGGCTTCCGGGGGGGTCC	0.711			"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				-	64572093	G	-	64572093	7	5	264	1	0	1	0	1	0	0	0	0	9472	1115	39	0	290	0	MEN1	11	64572093	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	35069	64572093	70434423	1016	130534											
ATG2A	23130	broad.mit.edu	37	chr11	64674254	64674254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccagcaccagctcccCgtgcacagcctccagccgct	8	20	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64674254C>T	uc001obx.2	-	20	2981	c.2866G>A	c.(2866-2868)GGG>AGG	p.G956R		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	956							protein binding			ovary(1)|central_nervous_system(1)	2						ACCAGCTCCCCGTGCACAGCC	0.617													T	64674254	C	T	64674254	3	4	264	1	0	0	0	0	1	0	0	0	1093	652	23	1	3038	1	ATG2A	11	64674254	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	102161	64674254	70332262	1017	130535											
NAALADL1	10004	broad.mit.edu	37	chr11	64812884	64812884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggcattggataggccCgggaatgtgactacggagcc	16	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64812884C>T	uc001ocn.2	-	18	2098	c.2082G>A	c.(2080-2082)CCG>CCA	p.P694P	NAALADL1_uc010rnw.1_Silent_p.P170P	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	694	Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						TGGATAGGCCCGGGAATGTGA	0.597													T	64812884	C	T	64812884	2	4	264	1	0	0	0	0	0	0	0	1	10129	639	23	1		1	NAALADL1	11	64812884	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	138630	64812884	70193632	1018	130536											
SPDYC	387778	broad.mit.edu	37	chr11	64938885	64938885	+	Frame_Shift_Del	DEL	G	G	-													gttaccacccaggtagagctGgggggctgcagccggcaagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64938884_64938884TG>T	uc010rnz.2	+	1	113	c.113_113TG>T	c.(112-114)ctgfs	p.L38fs		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	38					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CAGGTAGAGCTGGGGGGCTGC	0.602													-	64938885	G	-	64938885	7	5	264	1	0	1	0	1	0	0	0	0	15027	1335	47	0	120	0	SPDYC	11	64938885	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	126001	64938885	70067631	1019	130537											
FRMD8	83786	broad.mit.edu	37	chr11	65161804	65161804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgcacggtacccgtgCgacgtggaggactgcgaggc	17	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65161804C>T	uc001odu.3	+	6	681	c.489C>T	c.(487-489)TGC>TGT	p.C163C	FRMD8_uc009yqj.2_Silent_p.C107C|FRMD8_uc010rof.1_Silent_p.C129C	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	163	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						GGTACCCGTGCGACGTGGAGG	0.706													T	65161804	C	T	65161804	2	4	264	1	0	0	0	0	0	0	0	1	6056	776	27	1		1	FRMD8	11	65161804	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	222919	65161804	69844712	1020	130538											
SIPA1	6494	broad.mit.edu	37	chr11	65409844	65409844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgtcatcgtgcggaccaCgcaggtgggccgggatcgcg	17	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65409844C>T	uc001ofb.2	+	3	970	c.803C>T	c.(802-804)ACG>ATG	p.T268M	SIPA1_uc010rom.1_Missense_Mutation_p.T268M|SIPA1_uc001ofd.2_Missense_Mutation_p.T268M	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	268					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				0						GTGCGGACCACGCAGGTGGGC	0.682													T	65409844	C	T	65409844	3	4	264	1	0	0	0	0	1	0	0	0	14328	536	19	1	809	1	SIPA1	11	65409844	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	248040	65409844	69596672	1021	130539											
FIBP	9158	broad.mit.edu	37	chr11	65653100	65653100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttccctgtctcaaagcGgttgttagcaaagaagacga	9	9	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65653100G>A	uc001ogd.2	-	5	668	c.547C>T	c.(547-549)CGC>TGC	p.R183C	FIBP_uc009yqu.2_Missense_Mutation_p.R180C|FIBP_uc001oge.2_Missense_Mutation_p.R183C	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	183					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		GTCTCAAAGCGGTTGTTAGCA	0.522											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65653100	G	A	65653100	3	1	264	1	0	0	0	0	1	0	0	0	5886	1116	39	1	571	1	FIBP	11	65653100	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	243256	65653100	69353416	1022	130540											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714358	65714358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctgcccagggctgccTggggagtggtgatggtgtgc	18	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65714358T>C	uc001ogk.1	+	4	187	c.155T>C	c.(154-156)CTG>CCG	p.L52P	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	52											0						CAGGGCTGCCTGGGGAGTGGT	0.622													C	65714358	T	C	65714358	3	2	264	1	0	0	0	0	1	0	0	0	16615	1580	55	3	161	3	TSGA10IP	11	65714358	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	61258	65714358	69292158	1023	130541											
TSGA10IP	254187	broad.mit.edu	37	chr11	65715209	65715209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaacaacctccgaaggCgacaatggaggaagacaagg	12	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65715209C>T	uc001ogk.1	+	5	945	c.913C>T	c.(913-915)CGA>TGA	p.R305*	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	305											0						CCTCCGAAGGCGACAATGGAG	0.607													T	65715209	C	T	65715209	4	4	264	1	0	0	0	0	0	1	0	0	16615	760	27	1	923	1	TSGA10IP	11	65715209	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	851	65715209	69291307	1024	130542											
SF3B2	10992	broad.mit.edu	37	chr11	65822776	65822776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgcagcaggaggagcGtgccaagcaggtagggcagg	19	8	0	1	rs146650893		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65822776G>A	uc001ogy.1	+	4	528	c.488G>A	c.(487-489)CGT>CAT	p.R163H	SF3B2_uc001ogx.1_Missense_Mutation_p.R163H	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	163	Potential.				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CAGGAGGAGCGTGCCAAGCAG	0.622													A	65822776	G	A	65822776	3	1	264	1	0	0	0	0	1	0	0	0	14151	1145	40	1	502	1	SF3B2	11	65822776	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	107567	65822776	69183740	1025	130543											
ACTN3	89	broad.mit.edu	37	chr11	66330516	66330516	+	Frame_Shift_Del	DEL	C	C	-													ttctccccagaactacatcaCccccgaggagctgcggcgcg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:66330515_66330515AC>A	uc021qma.1	+	10	1324	c.811_811AC>A	c.(811-813)accfs	p.T271fs	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	853					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						GAACTACATCACCCCCGAGGA	0.682													-	66330516	C	-	66330516	7	5	264	1	0	1	0	1	0	0	0	0	206	507	18	0	2640	0	ACTN3	11	66330516	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	507740	66330516	68676000	1026	130544											
RBM4B	83759	broad.mit.edu	37	chr11	66436260	66436260	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctgcagcacgacgcagTgggctcctgtcccttccata	11	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:66436260T>C	uc001oja.2	-	2	1584	c.915A>G	c.(913-915)CCA>CCG	p.P305P	RBM4B_uc001ojb.2_Silent_p.P305P	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	305	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				0						CACGACGCAGTGGGCTCCTGT	0.572													C	66436260	T	C	66436260	2	2	264	1	0	0	0	0	0	0	0	1	13142	1683	59	3		3	RBM4B	11	66436260	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	105744	66436260	68570256	1027	130545											
PC	5091	broad.mit.edu	37	chr11	66633741	66633741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcacacccgttgatgcGgatgttctcctgccgcaggc	13	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:66633741G>A	uc001ojn.1	-	9	1151	c.1102C>T	c.(1102-1104)CGC>TGC	p.R368C	PC_uc001ojo.1_Missense_Mutation_p.R368C|PC_uc001ojp.1_Missense_Mutation_p.R368C	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	368	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCGTTGATGCGGATGTTCTCC	0.682													A	66633741	G	A	66633741	3	1	264	1	0	0	0	0	1	0	0	0	11497	1116	39	1	2486	1	PC	11	66633741	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	197481	66633741	68372775	1028	130546											
RAD9A	5883	broad.mit.edu	37	chr11	67163284	67163286	+	In_Frame_Del	DEL	GAG	GAG	-													tcatcctgcgcagctaccacGaggaggaggcaggtgagggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:67163283_67163285CGAG>C	uc001okr.3	+	5	639_641	c.546_548CGAG>C	c.(544-549)cacgag>caCg	p.E185del	RAD9A_uc021qmg.1_In_Frame_Del_p.E109del	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	185					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCAGCTACCACGAGGAGGAGGCA	0.655								Other conserved DNA damage response genes					-	67163286	GAG	-	67163284	7	5	264	1	0	1	0	1	0	0	0	0	12995	1059	37	0	569	0	RAD9A	11	67163284	In_Frame_Del	DEL	GAG	TCGA-HU-A4G8-01A-11D-A25D-08	529543	67163284	67843232	1029	130547											
CABP4	57010	broad.mit.edu	37	chr11	67222963	67222963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtcagaagccccctgcGggggttgtgactcccaagag	15	13	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:67222963G>A	uc001olo.2	+	1	146	c.69G>A	c.(67-69)GCG>GCA	p.A23A	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	23					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCCCCTGCGGGGGTTGTGA	0.632													A	67222963	G	A	67222963	2	1	264	1	0	0	0	0	0	0	0	1	2533	1103	39	1		1	CABP4	11	67222963	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	59679	67222963	67783553	1030	130548											
CABP2	51475	broad.mit.edu	37	chr11	67287369	67287369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccttgagggccgcccGgagctcgcccacgctgatgc	15	16	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:67287369G>A	uc001omc.1	-	6	634	c.532C>T	c.(532-534)CGG>TGG	p.R178W	CABP2_uc001omd.1_Missense_Mutation_p.R121W|CABP2_uc001ome.1_Missense_Mutation_p.R184W	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	178	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						AGGGCCGCCCGGAGCTCGCCC	0.672													A	67287369	G	A	67287369	3	1	264	1	0	0	0	0	1	0	0	0	2532	1115	39	1	138	1	CABP2	11	67287369	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	64406	67287369	67719147	1031	130549											
C11orf24	53838	broad.mit.edu	37	chr11	68029129	68029129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcacatttctgagtccGcatacatcccgttgattaag	6	14	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:68029129G>A	uc001onr.3	-	4	1776	c.1334C>T	c.(1333-1335)GCG>GTG	p.A445V	C11orf24_uc001ons.2_3'UTR	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	445	Cytoplasmic (Potential).					integral to membrane					0						TTCTGAGTCCGCATACATCCC	0.527													A	68029129	G	A	68029129	3	1	264	1	0	0	0	0	1	0	0	0	1635	1087	38	1	19	1	C11orf24	11	68029129	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	741760	68029129	66977387	1032	130550											
SHANK2	22941	broad.mit.edu	37	chr11	70331881	70331881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggagatagtgctggtcGtctcgaggtggtggtcgctg	19	7	1	1	rs146717159		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:70331881G>A	uc001oqc.2	-	21	4595	c.4517C>T	c.(4516-4518)ACG>ATG	p.T1506M	SHANK2_uc010rqn.1_Missense_Mutation_p.T918M|SHANK2_uc001opz.2_Missense_Mutation_p.T911M|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1127					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGTGCTGGTCGTCTCGAGGTG	0.587													A	70331881	G	A	70331881	3	1	264	1	0	0	0	0	1	0	0	0	14265	1145	40	1	1040	1	SHANK2	11	70331881	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2302752	70331881	64674635	1033	130551											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276883	71276883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggctccaaagggggcTgtggttcctgtgggggctcc	20	9	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:71276883T>C	uc001oqt.1	+	1	275	c.250T>C	c.(250-252)TGT>CGT	p.C84R		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	84	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						CAAAGGGGGCTGTGGTTCCTG	0.687													C	71276883	T	C	71276883	3	2	264	1	0	0	0	0	1	0	0	0	8559	1580	55	3	252	3	KRTAP5-10	11	71276883	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	945002	71276883	63729633	1034	130552											
ARAP1	116985	broad.mit.edu	37	chr11	72423290	72423290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttgatgactggtgtgaCgggggtggagcccccaggcg	18	10	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:72423290C>T	uc001osu.2	-	7	1162	c.973G>A	c.(973-975)GTC>ATC	p.V325I	ARAP1_uc001osv.2_Missense_Mutation_p.V325I|ARAP1_uc001osr.2_Missense_Mutation_p.V85I|ARAP1_uc001oss.2_Missense_Mutation_p.V80I|ARAP1_uc009yth.2_Missense_Mutation_p.V80I|ARAP1_uc010rre.1_Missense_Mutation_p.V80I	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	325					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			skin(1)	1						ACTGGTGTGACGGGGGTGGAG	0.667													T	72423290	C	T	72423290	3	4	264	1	0	0	0	0	1	0	0	0	838	536	19	1	3495	1	ARAP1	11	72423290	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1146407	72423290	62583226	1035	130553											
P4HA3	283208	broad.mit.edu	37	chr11	73997331	73997331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtctgcaggtggggtAtattgggcctctggatgaca	15	8	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:73997331A>G	uc001ouz.2	-	6	918	c.875T>C	c.(874-876)ATA>ACA	p.I292T	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.I292T	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	292						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					CAGGTGGGGTATATTGGGCCT	0.547													G	73997331	A	G	73997331	3	3	264	1	0	0	0	0	1	0	0	0	11358	449	16	3	791	3	P4HA3	11	73997331	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1574041	73997331	61009185	1036	130554											
ARRB1	408	broad.mit.edu	37	chr11	74989778	74989778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccttccggatgaccagacGcacagaattcctaatggaga	9	11	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:74989778G>A	uc001owe.1	-	8	715	c.493C>T	c.(493-495)CGT>TGT	p.R165C	ARRB1_uc001owf.1_Missense_Mutation_p.R165C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	165				R -> G (in Ref. 1; AAA35559/AAA35558).	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(2)	2						ATGACCAGACGCACAGAATTC	0.587													A	74989778	G	A	74989778	3	1	264	1	0	0	0	0	1	0	0	0	980	1087	38	1	799	1	ARRB1	11	74989778	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	992447	74989778	60016738	1037	130555											
LRRC32	2615	broad.mit.edu	37	chr11	76371445	76371445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatgggggcaggtcccgcaGggcattgccctgtaggagca	17	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:76371445G>T	uc001oxq.3	-	3	1435	c.1192C>A	c.(1192-1194)CTG>ATG	p.L398M	LRRC32_uc001oxr.3_Missense_Mutation_p.L398M|LRRC32_uc010rsf.1_Missense_Mutation_p.L398M	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	398	LRR 14.|Extracellular (Potential).					integral to plasma membrane					0						AGGTCCCGCAGGGCATTGCCC	0.647													T	76371445	G	T	76371445	3	4	264	1	0	0	0	0	1	0	0	0	8987	991	35	5	800	5	LRRC32	11	76371445	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1381667	76371445	58635071	1038	130556											
CAPN5	726	broad.mit.edu	37	chr11	76830130	76830130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgatctgcatccagcagCggccaaagcggtctacgcgc	11	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:76830130C>T	uc001oxx.2	+	9	1407	c.1222C>T	c.(1222-1224)CGG>TGG	p.R408W	CAPN5_uc009yup.2_Missense_Mutation_p.R448W|CAPN5_uc009yuq.2_Missense_Mutation_p.R444W|CAPN5_uc001oxy.2_Missense_Mutation_p.R448W|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	408	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CATCCAGCAGCGGCCAAAGCG	0.463													T	76830130	C	T	76830130	3	4	264	1	0	0	0	0	1	0	0	0	2629	759	27	1	1252	1	CAPN5	11	76830130	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	458685	76830130	58176386	1039	130557											
DLG2	1740	broad.mit.edu	37	chr11	83344258	83344258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactcctttgcctacctgaCgtagagggagcgtttctgat	10	10	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:83344258C>T	uc001paj.2	-	14	1924	c.1621G>A	c.(1621-1623)GTC>ATC	p.V541I	DLG2_uc001pai.2_Missense_Mutation_p.V438I|DLG2_uc010rsy.1_Missense_Mutation_p.V508I|DLG2_uc010rsz.1_Missense_Mutation_p.V541I|DLG2_uc010rta.1_Missense_Mutation_p.V541I|DLG2_uc001pak.2_Missense_Mutation_p.V646I|DLG2_uc010rtb.1_Missense_Mutation_p.V508I|DLG2_uc001pal.1_Missense_Mutation_p.V541I|DLG2_uc010rsw.1_Missense_Mutation_p.V23I|DLG2_uc010rsx.1_Missense_Mutation_p.V22I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	541	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCCTACCTGACGTAGAGGGAG	0.478													T	83344258	C	T	83344258	3	4	264	1	0	0	0	0	1	0	0	0	4555	536	19	1	1081	1	DLG2	11	83344258	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6514128	83344258	51662258	1040	130558											
CTSC	1075	broad.mit.edu	37	chr11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-													cttccaacaaaactaaccttAaaaaaggcaaaccacttgta							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:88068108delA	uc001pck.3	-	2	416	c.315delT	c.(313-315)TTTfs	p.F105fs	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Frame_Shift_Del_p.F105fs|CTSC_uc001pcn.3_Frame_Shift_Del_p.F105fs	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	105					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTAACCTTAAAAAAGGCAA	0.338													-	88068108	A	-	88068108	7	5	264	1	0	1	0	1	0	0	0	0	4031	359	13	0	1231	0	CTSC	11	88068108	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	4723850	88068108	46938408	1041	130559											
MTNR1B	4544	broad.mit.edu	37	chr11	92702912	92702912	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtcagagaacggctccttCgccaactgctgcgaggcggg	14	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:92702912C>T	uc001pdk.1	+	1	124	c.21C>T	c.(19-21)TTC>TTT	p.F7F		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	7	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	ACGGCTCCTTCGCCAACTGCT	0.756													T	92702912	C	T	92702912	2	4	264	1	0	0	0	0	0	0	0	1	9952	883	31	1		1	MTNR1B	11	92702912	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4634804	92702912	42303604	1042	130560											
ANKRD49	54851	broad.mit.edu	37	chr11	94231382	94231382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagggggccgatgttcAtgcagtgactgtggatggct	16	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:94231382A>G	uc001pew.2	+	3	543	c.404A>G	c.(403-405)CAT>CGT	p.H135R	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	135	ANK 2.				positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCGATGTTCATGCAGTGACT	0.483													G	94231382	A	G	94231382	3	3	264	1	0	0	0	0	1	0	0	0	675	217	8	3	410	3	ANKRD49	11	94231382	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1528470	94231382	40775134	1043	130561											
ENDOD1	23052	broad.mit.edu	37	chr11	94862364	94862364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattaatggcatagaaagttGcctttaccgcctgggctcag	11	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:94862364G>A	uc001pfh.2	+	2	1199	c.1124G>A	c.(1123-1125)TGC>TAC	p.C375Y		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	375						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ATAGAAAGTTGCCTTTACCGC	0.458													A	94862364	G	A	94862364	3	1	264	1	0	0	0	0	1	0	0	0	5114	1319	46	2	1130	2	ENDOD1	11	94862364	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	630982	94862364	40144152	1044	130562											
MAML2	84441	broad.mit.edu	37	chr11	95825410	95825410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgttgctg	14	11	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:95825410C>T	uc001pfw.1	-	2	3070	c.1785G>A	c.(1783-1785)CAG>CAA	p.Q595Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	595					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgttgct	0.189			T	MECT1|CRTC3	salivary gland mucoepidermoid								T	95825410	C	T	95825410	2	4	264	1	0	0	0	0	0	0	0	1	9206	796	28	2		2	MAML2	11	95825410	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	963046	95825410	39181106	1045	130563											
DYNC2H1	79659	broad.mit.edu	37	chr11	103048395	103048395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaatgttaagggctgcGctttgtaaaactggcaaagt	13	5	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:103048395G>A	uc001pho.2	+	38	6129	c.5985G>A	c.(5983-5985)GCG>GCA	p.A1995A	DYNC2H1_uc001phn.1_Silent_p.A1995A|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1995	AAA 2 (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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAAGGGCTGCGCTTTGTAAAA	0.393													A	103048395	G	A	103048395	2	1	264	1	0	0	0	0	0	0	0	1	4846	1074	38	1		1	DYNC2H1	11	103048395	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7222985	103048395	31958121	1046	130564											
CARD16	114769	broad.mit.edu	37	chr11	104912364	104912364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttccatatcctttgagcGtcttctagaaagcaaagctt	7	9	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:104912364G>A	uc001pip.1	-	3	384	c.357C>T	c.(355-357)GAC>GAT	p.D119D	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	119					regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						TCCTTTGAGCGTCTTCTAGAA	0.438													A	104912364	G	A	104912364	2	1	264	1	0	0	0	0	0	0	0	1	2647	1136	40	1		1	CARD16	11	104912364	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1863969	104912364	30094152	1047	130565											
AASDHPPT	60496	broad.mit.edu	37	chr11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagaagaaattccaataCgaaatggtacaaagtcatga	7	7	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:105967614C>T	uc001pjc.1	+	6	1056	c.910C>T	c.(910-912)CGA>TGA	p.R304*	AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Nonsense_Mutation_p.R157*	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde	304					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348													T	105967614	C	T	105967614	4	4	264	1	0	0	0	0	0	1	0	0	23	528	19	1	932	1	AASDHPPT	11	105967614	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1055250	105967614	29038902	1048	130566											
SLN	6588	broad.mit.edu	37	chr11	107578563	107578563	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatggcatggcctctcAgtactgataggacctcacaa	10	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:107578563A>G	uc001pjp.2	-	2	268	c.94T>C	c.(94-96)TGA>CGA	p.*32R		NM_003063	NP_003054	O00631	SARCO_HUMAN	sarcolipin	32					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity				0		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		ATGGCCTCTCAGTACTGATAG	0.502													G	107578563	A	G	107578563	4	3	264	1	0	0	0	0	0	0	0	0	14752	201	7	3	5	3	SLN	11	107578563	Nonstop_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1610949	107578563	27427953	1049	130567											
NCAM1	4684	broad.mit.edu	37	chr11	113078026	113078026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatattgtgaatgccacCgccaacctcggccagtccgt	9	14	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:113078026C>T	uc009yyq.1	+	6	1012	c.318C>T	c.(316-318)ACC>ACT	p.T106T	NCAM1_uc001pno.2_Silent_p.T106T	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	224	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGAATGCCACCGCCAACCTCG	0.527													T	113078026	C	T	113078026	2	4	264	1	0	0	0	0	0	0	0	1	10202	639	23	1		1	NCAM1	11	113078026	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5499463	113078026	21928490	1050	130568											
NNMT	4837	broad.mit.edu	37	chr11	114168764	114168764	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatcctttaaggagatcgtCgtcactgactactcagacca	8	11	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:114168764C>T	uc001por.1	+	4	510	c.246C>T	c.(244-246)GTC>GTT	p.V82V	NNMT_uc001pos.1_Silent_p.V82V	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	82					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		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)	AGGAGATCGTCGTCACTGACT	0.532													T	114168764	C	T	114168764	2	4	264	1	0	0	0	0	0	0	0	1	10509	871	31	1		1	NNMT	11	114168764	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1090738	114168764	20837752	1051	130569											
CEP164	22897	broad.mit.edu	37	chr11	117267846	117267846	+	Frame_Shift_Del	DEL	G	G	-													tggcacctcctctctgctgaGggggtagccctccgtagtgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117267845_117267845AG>A	uc001prc.3	+	26	3464	c.3317_3317AG>A	c.(3316-3318)gagfs	p.E1106fs	CEP164_uc001prb.3_Frame_Shift_Del_p.E1109fs|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Del_p.E539fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1106					DNA repair|G2/M transition of mitotic cell cycle|cell division|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)		CTCTCTGCTGAGGGGGTAGCC	0.587													-	117267846	G	-	117267846	7	5	264	1	0	1	0	1	0	0	0	0	3249	991	35	0	3416	0	CEP164	11	117267846	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	3099082	117267846	17738670	1052	130570											
CEP164	22897	broad.mit.edu	37	chr11	117280388	117280388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggcttagccactcccTccggcagatcagcagccagc	10	18	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117280388T>G	uc001prc.2	+	30	3950	c.3803T>G	c.(3802-3804)CTC>CGC	p.L1268R	CEP164_uc001prb.2_Missense_Mutation_p.L1263R|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.L693R	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1268					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		AGCCACTCCCTCCGGCAGATC	0.627													G	117280388	T	G	117280388	3	3	264	1	0	0	0	0	1	0	0	0	3249	1551	54	5	3913	5	CEP164	11	117280388	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	12542	117280388	17726128	1053	130571											
CEP164	22897	broad.mit.edu	37	chr11	117280532	117280532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacccccacctactatgGctccctggccaggttctcag	7	20	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117280532G>A	uc001prc.2	+	30	4094	c.3947G>A	c.(3946-3948)GGC>GAC	p.G1316D	CEP164_uc001prb.2_Missense_Mutation_p.G1311D|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.G741D	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1316					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		ACCTACTATGGCTCCCTGGCC	0.672													A	117280532	G	A	117280532	3	1	264	1	0	0	0	0	1	0	0	0	3249	1203	42	2	4057	2	CEP164	11	117280532	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	144	117280532	17725984	1054	130572											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789217	117789217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgctctaacaaggtAcactctggttggggaggttg	15	6	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117789217A>G	uc001prs.1	-	2	451	c.358T>C	c.(358-360)TAC>CAC	p.Y120H	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.Y120H	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	115	Cytoplasmic (Potential).				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTAACAAGGTACACTCTGGTT	0.617													G	117789217	A	G	117789217	3	3	264	1	0	0	0	0	1	0	0	0	16242	391	14	3	1393	3	TMPRSS13	11	117789217	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	508685	117789217	17217299	1055	130573											
PHLDB1	23187	broad.mit.edu	37	chr11	118498395	118498395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtgcccccgctggtaCctgcccgttcctccagctac	8	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:118498395C>A	uc001ptr.1	+	7	1209	c.856C>A	c.(856-858)CCT>ACT	p.P286T	PHLDB1_uc010ryh.1_Missense_Mutation_p.P285T|PHLDB1_uc001pts.2_Missense_Mutation_p.P286T|PHLDB1_uc001ptt.2_Missense_Mutation_p.P286T|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.P86T|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	286											0	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)		CCCGCTGGTACCTGCCCGTTC	0.642													A	118498395	C	A	118498395	3	1	264	1	0	0	0	0	1	0	0	0	11851	507	18	5	874	5	PHLDB1	11	118498395	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	709178	118498395	16508121	1056	130574											
UBASH3B	84959	broad.mit.edu	37	chr11	122650309	122650309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggagctctatacgtcGtccaacttcatcggcctctt	7	16	3	0	rs140669282	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:122650309G>A	uc001pyi.3	+	4	867	c.507G>A	c.(505-507)TCG>TCA	p.S169S		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	169						cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCTATACGTCGTCCAACTTCA	0.572													A	122650309	G	A	122650309	2	1	264	1	0	0	0	0	0	0	0	1	16837	1132	40	1		1	UBASH3B	11	122650309	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4151914	122650309	12356207	1057	130575											
GRAMD1B	57476	broad.mit.edu	37	chr11	123484323	123484323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgagcccggtcaccacGcccacagatgaggatgtggg	15	11	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:123484323G>A	uc001pyx.2	+	15	2084	c.1755G>A	c.(1753-1755)ACG>ACA	p.T585T	GRAMD1B_uc001pyw.2_Silent_p.T592T|GRAMD1B_uc010rzw.1_Silent_p.T545T|GRAMD1B_uc010rzx.1_Silent_p.T545T|GRAMD1B_uc001pyy.2_Silent_p.T276T	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	585						integral to membrane				ovary(1)	1		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)		CGGTCACCACGCCCACAGATG	0.612													A	123484323	G	A	123484323	2	1	264	1	0	0	0	0	0	0	0	1	6748	1074	38	1		1	GRAMD1B	11	123484323	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	834014	123484323	11522193	1058	130576											
OR6X1	390260	broad.mit.edu	37	chr11	123624938	123624938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtggaagaaggcctgcaGcaggcagcaggacatgcaga	16	8	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:123624938G>A	uc010rzy.1	-	1	289	c.289C>T	c.(289-291)CTG>TTG	p.L97L		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		AAGGCCTGCAGCAGGCAGCAG	0.498													A	123624938	G	A	123624938	2	1	264	1	0	0	0	0	0	0	0	1	11212	962	34	2		2	OR6X1	11	123624938	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	140615	123624938	11381578	1059	130577											
OR8D1	283159	broad.mit.edu	37	chr11	124180241	124180241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagcactagcagtgagCagacccatgaggacatgatc	11	12	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:124180241C>T	uc010sag.1	-	1	422	c.422G>A	c.(421-423)TGC>TAC	p.C141Y		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		TAGCAGTGAGCAGACCCATGA	0.493													T	124180241	C	T	124180241	3	4	264	1	0	0	0	0	1	0	0	0	11231	710	25	2	507	2	OR8D1	11	124180241	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	555303	124180241	10826275	1060	130578											
KIRREL3	84623	broad.mit.edu	37	chr11	126391268	126391268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggatggcctggcactcGtacaccgcatcgtcttgcag	12	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:126391268G>A	uc001qea.2	-	4	736	c.375C>T	c.(373-375)TAC>TAT	p.Y125Y	KIRREL3_uc001qeb.2_Silent_p.Y125Y|KIRREL3_uc001qec.1_Silent_p.Y125Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	125	Ig-like C2-type 1.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	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)		CCTGGCACTCGTACACCGCAT	0.632													A	126391268	G	A	126391268	2	1	264	1	0	0	0	0	0	0	0	1	8326	1140	40	1		1	KIRREL3	11	126391268	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2211027	126391268	8615248	1061	130579											
FLI1	2313	broad.mit.edu	37	chr11	128680622	128680622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacttccacggcattgcCcaggctctgcagccacatcc	8	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:128680622C>T	uc010sbu.1	+	9	1439	c.1098C>T	c.(1096-1098)GCC>GCT	p.A366A	FLI1_uc010sbt.1_Silent_p.A173A|FLI1_uc010sbv.1_Silent_p.A333A|FLI1_uc009zci.2_Silent_p.A300A	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	366					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	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)		ACGGCATTGCCCAGGCTCTGC	0.493			T	EWSR1	Ewing sarcoma								T	128680622	C	T	128680622	2	4	264	1	0	0	0	0	0	0	0	1	5924	610	22	4		4	FLI1	11	128680622	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2289354	128680622	6325894	1062	130580											
NFRKB	4798	broad.mit.edu	37	chr11	129743689	129743689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggaacccggatctgcGgtcctgctggcatctgtggc	15	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:129743689G>A	uc001qfi.2	-	22	2702	c.2501C>T	c.(2500-2502)CCG>CTG	p.P834L	NFRKB_uc001qfg.2_Missense_Mutation_p.P859L|NFRKB_uc001qfh.2_Missense_Mutation_p.P857L|NFRKB_uc010sbw.1_Missense_Mutation_p.P844L|NFRKB_uc009zcr.2_Missense_Mutation_p.P120L	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	834					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	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)		CCGGATCTGCGGTCCTGCTGG	0.617													A	129743689	G	A	129743689	3	1	264	1	0	0	0	0	1	0	0	0	10384	1116	39	1	1422	1	NFRKB	11	129743689	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1063067	129743689	5262827	1063	130581											
PRDM10	56980	broad.mit.edu	37	chr11	129814773	129814773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttggagaacaccccgcCcagaaacctgtctatgtaga	9	14	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:129814773C>A	uc001qfm.2	-	6	887	c.655G>T	c.(655-657)GGC>TGC	p.G219C	PRDM10_uc001qfj.2_Missense_Mutation_p.G133C|PRDM10_uc001qfk.2_Missense_Mutation_p.G133C|PRDM10_uc001qfl.2_Missense_Mutation_p.G133C|PRDM10_uc010sbx.1_Missense_Mutation_p.G133C|PRDM10_uc001qfn.2_Missense_Mutation_p.G219C|PRDM10_uc009zct.1_Missense_Mutation_p.G251C	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	219	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		AACACCCCGCCCAGAAACCTG	0.662													A	129814773	C	A	129814773	3	1	264	1	0	0	0	0	1	0	0	0	12451	623	22	5	2895	5	PRDM10	11	129814773	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	71084	129814773	5191743	1064	130582											
APLP2	334	broad.mit.edu	37	chr11	129999046	129999046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctatgctgaatgaccGccgtcggatggctctggaga	15	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:129999046G>A	uc010sby.1	+	10	1557	c.1400G>A	c.(1399-1401)CGC>CAC	p.R467H	APLP2_uc001qfp.2_Missense_Mutation_p.R467H|APLP2_uc001qfq.2_Missense_Mutation_p.R411H|APLP2_uc010sbz.1_Missense_Mutation_p.R255H|APLP2_uc001qfr.2_Missense_Mutation_p.R233H|APLP2_uc001qfs.2_Missense_Mutation_p.R238H|APLP2_uc001qfv.2_Missense_Mutation_p.R358H	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	467	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		CTGAATGACCGCCGTCGGATG	0.582													A	129999046	G	A	129999046	3	1	264	1	0	0	0	0	1	0	0	0	779	1087	38	1	1438	1	APLP2	11	129999046	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	184273	129999046	5007470	1065	130583											
ADAMTS15	170689	broad.mit.edu	37	chr11	130319789	130319789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgagtgacaagcacccCgagtactgggacactgccat	11	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:130319789C>T	uc010scd.1	+	1	921	c.921C>T	c.(919-921)CCC>CCT	p.P307P		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	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)		ACAAGCACCCCGAGTACTGGG	0.582											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	130319789	C	T	130319789	2	4	264	1	0	0	0	0	0	0	0	1	260	639	23	1		1	ADAMTS15	11	130319789	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	320743	130319789	4686727	1066	130584											
NTM	50863	broad.mit.edu	37	chr11	132184562	132184562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcgtggcctccaacaAgctgggccacaccaatgcca	9	16	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:132184562A>G	uc001qgp.2	+	6	1563	c.899A>G	c.(898-900)AAG>AGG	p.K300R	NTM_uc001qgm.2_Missense_Mutation_p.K300R|NTM_uc010sch.1_Missense_Mutation_p.K291R|NTM_uc010sci.1_Missense_Mutation_p.K300R|NTM_uc010scj.1_Missense_Mutation_p.K259R|NTM_uc001qgo.2_Missense_Mutation_p.K300R|NTM_uc001qgq.2_Missense_Mutation_p.K300R|NTM_uc001qgr.2_Missense_Mutation_p.K82R	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	300	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GCCTCCAACAAGCTGGGCCAC	0.517													G	132184562	A	G	132184562	3	3	264	1	0	0	0	0	1	0	0	0	10699	72	3	3	1007	3	NTM	11	132184562	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1864773	132184562	2821954	1067	130585											
IQSEC3	440073	broad.mit.edu	37	chr12	275010	275010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagttcgtggaggacctgaaGgagtccattgctgaggtgac	15	7	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:275010G>T	uc001qhw.1	+	8	2022	c.2016G>T	c.(2014-2016)AAG>AAT	p.K672N	IQSEC3_uc001qhu.1_Missense_Mutation_p.K672N	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	975	Potential.|PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	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)		AGGACCTGAAGGAGTCCATTG	0.602													T	275010	G	T	275010	3	4	264	1	0	0	0	0	1	0	0	0	7819	991	35	5	2967	5	IQSEC3	12	275010	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08		275010	133576885	1068	130586											
ERC1	23085	broad.mit.edu	37	chr12	1192553	1192553	+	Frame_Shift_Del	DEL	A	A	-													ggagctgcgtattgagactcAaaagcagaccctaaatgctc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:1192552_1192552CA>C	uc001qjb.2	+	2	1133	c.892_892CA>C	c.(892-894)caafs	p.Q298fs	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Frame_Shift_Del_p.Q298fs|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Frame_Shift_Del_p.Q298fs|ERC1_uc010sdv.1_Frame_Shift_Del_p.Q74fs	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	298					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TATTGAGACTCAAAAGCAGAC	0.478													-	1192553	A	-	1192553	7	5	264	1	0	1	0	1	0	0	0	0	5210	130	5	0	899	0	ERC1	12	1192553	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	917543	1192553	132659342	1069	130587											
PRMT8	56341	broad.mit.edu	37	chr12	3649780	3649780	+	Frame_Shift_Del	DEL	C	C	-													tcttcccctcaggtgaacagCcccccctcccagccccccca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:3649779_3649779GC>G	uc001qmf.3	+	1	450	c.83_83GC>G	c.(82-84)agcfs	p.S28fs	PRMT8_uc009zed.3_Frame_Shift_Del_p.S19fs|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	28					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)			CAGGTGAACAGCCCCCCCTCC	0.662													-	3649780	C	-	3649780	7	5	264	1	0	1	0	1	0	0	0	0	12542	738	26	0	90	0	PRMT8	12	3649780	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	2457227	3649780	130202115	1070	130588											
C12orf5	57103	broad.mit.edu	37	chr12	4461843	4461843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatcatctaaatggactgActgaaactcgctaaggttaa	9	7	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:4461843A>G	uc001qmp.2	+	6	878	c.799A>G	c.(799-801)ACT>GCT	p.T267A		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	267						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAATGGACTGACTGAAACTCG	0.393													G	4461843	A	G	4461843	3	3	264	1	0	0	0	0	1	0	0	0	1694	275	10	3	821	3	C12orf5	12	4461843	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	812063	4461843	129390052	1071	130589											
KCNA6	3742	broad.mit.edu	37	chr12	4920562	4920562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcctcaccattgcccTgcctgtgcccgtcatcgtct	10	16	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:4920562T>C	uc001qng.2	+	1	2221	c.1355T>C	c.(1354-1356)CTG>CCG	p.L452P		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	452	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						ACCATTGCCCTGCCTGTGCCC	0.592										HNSCC(72;0.22)			C	4920562	T	C	4920562	3	2	264	1	0	0	0	0	1	0	0	0	8007	1580	55	3	1357	3	KCNA6	12	4920562	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	458719	4920562	128931333	1072	130590											
CHD4	1108	broad.mit.edu	37	chr12	6688047	6688047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataggggtcagatctattGctgacttttcctccaccttc	7	12	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6688047G>A	uc001qpo.2	-	34	5110	c.4946C>T	c.(4945-4947)GCA>GTA	p.A1649V	CHD4_uc001qpn.2_Missense_Mutation_p.A1642V|CHD4_uc001qpp.2_Missense_Mutation_p.A1674V|uc001qpq.1_Intron	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1649	Required for interaction with PCNT.				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						CAGATCTATTGCTGACTTTTC	0.428													A	6688047	G	A	6688047	3	1	264	1	0	0	0	0	1	0	0	0	3327	1319	46	2	820	2	CHD4	12	6688047	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1767485	6688047	127163848	1073	130591											
ZNF384	171017	broad.mit.edu	37	chr12	6777196	6777196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcctgggcctgggccActgctgccgctgctgctgct	14	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6777196A>G	uc010sfh.1	-	11	1626	c.1418T>C	c.(1417-1419)GTG>GCG	p.V473A	ZNF384_uc001qpz.2_Missense_Mutation_p.V412A|ZNF384_uc001qqa.2_Missense_Mutation_p.V412A|ZNF384_uc001qqb.2_Missense_Mutation_p.V396A|ZNF384_uc001qqc.2_Missense_Mutation_p.V412A|ZNF384_uc001qqd.2_Missense_Mutation_p.V357A|ZNF384_uc001qqe.2_Missense_Mutation_p.V396A	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	473	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						ggcctgggccactgctgccgc	0.174			T	EWSR1|TAF15 	ALL								G	6777196	A	G	6777196	3	3	264	1	0	0	0	0	1	0	0	0	17872	159	6	3	319	3	ZNF384	12	6777196	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	89149	6777196	127074699	1074	130592											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	264	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	146847	6924043	126927852	1075	130593											
USP5	8078	broad.mit.edu	37	chr12	6973052	6973052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgggattccctatggaCgcctgccgcaaagctgtcta	12	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6973052C>T	uc001qri.3	+	16	2072	c.2013C>T	c.(2011-2013)GAC>GAT	p.D671D	USP5_uc001qrh.3_Silent_p.D648D	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	671	UBA 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						TCCCTATGGACGCCTGCCGCA	0.582													T	6973052	C	T	6973052	2	4	264	1	0	0	0	0	0	0	0	1	17078	535	19	1		1	USP5	12	6973052	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	49009	6973052	126878843	1076	130594											
NANOG	79923	broad.mit.edu	37	chr12	7945649	7945649	+	Frame_Shift_Del	DEL	A	A	-													tctgcagagaagagtgtcgcAaaaaaggaagacaaggtccc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:7945648_7945648CA>C	uc009zfy.1	+	1	470	c.254_254CA>C	c.(253-255)gcafs	p.A85fs		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	85					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGAGTGTCGCAAAAAAGGAA	0.473													-	7945649	A	-	7945649	7	5	264	1	0	1	0	1	0	0	0	0	10150	117	5	0	261	0	NANOG	12	7945649	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	972597	7945649	125906246	1077	130595											
CLEC4A	50856	broad.mit.edu	37	chr12	8281890	8281890	+	Frame_Shift_Del	DEL	A	A	-													aaaatattctcagcttcttgAaaaaaagactacaaaagagc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:8281889_8281889GA>G	uc001qtz.1	+	2	476	c.229_229GA>G	c.(229-231)gaafs	p.E77fs	CLEC4A_uc009zga.1_Frame_Shift_Del_p.E38fs|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	77					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCAGCTTCTTGAAAAAAAGAC	0.328													-	8281890	A	-	8281890	7	5	264	1	0	1	0	1	0	0	0	0	3512	246	9	0	240	0	CLEC4A	12	8281890	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	336241	8281890	125570005	1078	130596											
M6PR	4074	broad.mit.edu	37	chr12	9096397	9096397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacacagggtgcctcacCgctagggtgtgtcgattgca	12	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:9096397C>T	uc001qvf.2	-	4	623	c.453G>A	c.(451-453)GCG>GCA	p.A151A		NM_002355	NP_002346	P20645	MPRD_HUMAN	cation-dependent mannose-6-phosphate receptor	151	Lumenal (Potential).				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				0		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		GGTGCCTCACCGCTAGGGTGT	0.532													T	9096397	C	T	9096397	2	4	264	1	0	0	0	0	0	0	0	1	9140	666	23	1		1	M6PR	12	9096397	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	814507	9096397	124755498	1079	130597											
TAS2R10	50839	broad.mit.edu	37	chr12	10978282	10978282	+	Frame_Shift_Del	DEL	A	A	-													gtctccaaagggaaatgattAaaaaaatacatgtaattagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:10978281_10978281TA>T	uc001qyy.1	-	0	588	c.588_588TA>A	c.(586-588)ttafs	p.L196fs		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	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						GGGAAATGATTAAAAAAATAC	0.343													-	10978282	A	-	10978282	7	5	264	1	0	1	0	1	0	0	0	0	15563	372	13	0	340	0	TAS2R10	12	10978282	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1881885	10978282	122873613	1080	130598											
TAS2R14	50840	broad.mit.edu	37	chr12	11091669	11091669	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attgccaaagcagtgaggatCcgatcaaccgaagagatctt	10	9	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:11091669C>A	uc010shi.1	-	1	138	c.138G>T	c.(136-138)CGG>CGT	p.R46R	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	46	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						CAGTGAGGATCCGATCAACCG	0.398													A	11091669	C	A	11091669	2	1	264	1	0	0	0	0	0	0	0	1	15565	842	30	5		5	TAS2R14	12	11091669	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	113387	11091669	122760226	1081	130599											
LRP6	4040	broad.mit.edu	37	chr12	12334328	12334328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtatccaaagaaatgCgtctcaagtctgtccttcga	9	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:12334328C>T	uc001rah.3	-	6	1164	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R341H	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	341	Extracellular (Potential).|Beta-propeller 2.				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	p.R341H(1)		lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				CAAAGAAATGCGTCTCAAGTC	0.403													T	12334328	C	T	12334328	3	4	264	1	0	0	0	0	1	0	0	0	8962	768	27	1	3891	1	LRP6	12	12334328	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1242659	12334328	121517567	1082	130600											
GRIN2B	2904	broad.mit.edu	37	chr12	13720103	13720103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatgtagaagacccctgcCatgttgtcaatgtccagctg	9	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:13720103C>A	uc001rbt.2	-	12	2633	c.2454G>T	c.(2452-2454)ATG>ATT	p.M818I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	818	Helical; (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGACCCCTGCCATGTTGTCAA	0.512													A	13720103	C	A	13720103	3	1	264	1	0	0	0	0	1	0	0	0	6780	594	21	5	2008	5	GRIN2B	12	13720103	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1385775	13720103	120131792	1083	130601											
GUCY2C	2984	broad.mit.edu	37	chr12	14832594	14832594	+	Frame_Shift_Del	DEL	A	A	-													ccaaatgttatacctacttgAaaagatccactagaataatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:14832594delA	uc001rcd.2	-	6	964	c.827delT	c.(826-828)TTCfs	p.F276fs	GUCY2C_uc009zhz.2_Frame_Shift_Del_p.F276fs	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	276	Extracellular (Potential).				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			ovary(4)|skin(2)	6						TACCTACTTGAAAAGATCCAC	0.418													-	14832594	A	-	14832594	7	5	264	1	0	1	0	1	0	0	0	0	6896	246	9	0	2482	0	GUCY2C	12	14832594	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1112491	14832594	119019301	1084	130602											
GUCY2C	2984	broad.mit.edu	37	chr12	14840939	14840939	+	Frame_Shift_Del	DEL	T	T	-													gtgctactccggcagtcgccTgagttatgaatcagaccatc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:14840939delT	uc001rcd.2	-	2	413	c.276delA	c.(274-276)TCAfs	p.S92fs	GUCY2C_uc009zhz.2_Frame_Shift_Del_p.S92fs	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	92	Extracellular (Potential).				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			ovary(4)|skin(2)	6						GGCAGTCGCCTGAGTTATGAA	0.473													-	14840939	T	-	14840939	7	5	264	1	0	1	0	1	0	0	0	0	6896	1567	55	0	3049	0	GUCY2C	12	14840939	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	8345	14840939	119010956	1085	130603											
EPS8	2059	broad.mit.edu	37	chr12	15811510	15811510	+	Frame_Shift_Del	DEL	A	A	-													gaggttttgcccgcagcgttAaaacaccctctaatgaaata							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:15811509_15811509TA>T	uc009zif.3	-	10	1042	c.948_948TA>A	c.(946-948)ttafs	p.L316fs	EPS8_uc001rdb.3_Frame_Shift_Del_p.L316fs|EPS8_uc009zig.3_Frame_Shift_Del_p.L56fs|EPS8_uc010shv.2_Frame_Shift_Del_p.L56fs	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	316					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)		CCCGCAGCGTTAAAACACCCT	0.353													-	15811510	A	-	15811510	7	5	264	1	0	1	0	1	0	0	0	0	5194	372	13	0	1565	0	EPS8	12	15811510	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	970571	15811510	118040385	1086	130604											
BCAT1	586	broad.mit.edu	37	chr12	25047327	25047327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtcagcatatgatccGtgaacacagttccaaaaacc	6	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:25047327G>A	uc001rgd.3	-	3	603	c.161C>T	c.(160-162)ACG>ATG	p.T54M	BCAT1_uc001rgc.2_Missense_Mutation_p.T53M|BCAT1_uc010six.1_Missense_Mutation_p.T66M|BCAT1_uc010siy.1_Missense_Mutation_p.T54M|BCAT1_uc001rge.3_Missense_Mutation_p.T30M	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	54					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CATATGATCCGTGAACACAGT	0.453													A	25047327	G	A	25047327	3	1	264	1	0	0	0	0	1	0	0	0	1354	1145	40	1	1035	1	BCAT1	12	25047327	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9235817	25047327	108804568	1087	130605											
TMTC1	83857	broad.mit.edu	37	chr12	29659903	29659903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcataataagctcttGcagacacatattttccctgg	5	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:29659903G>A	uc001rjb.2	-	18	2675	c.2201C>T	c.(2200-2202)GCA>GTA	p.A734V	TMTC1_uc001riz.2_Missense_Mutation_p.A491V|TMTC1_uc001rja.2_Missense_Mutation_p.A578V|TMTC1_uc001riy.2_Missense_Mutation_p.A187V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	842	TPR 10.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATAAGCTCTTGCAGACACATA	0.428													A	29659903	G	A	29659903	3	1	264	1	0	0	0	0	1	0	0	0	16257	1319	46	2	127	2	TMTC1	12	29659903	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4612576	29659903	104191992	1088	130606											
IPO8	10526	broad.mit.edu	37	chr12	30802093	30802093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaattccccttcctttgCactgaagaatgatgacttcc	6	12	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:30802093C>T	uc001rjd.2	-	20	2416	c.2246G>A	c.(2245-2247)TGC>TAC	p.C749Y	IPO8_uc001rje.1_Missense_Mutation_p.C238Y|IPO8_uc010sjt.1_Missense_Mutation_p.C544Y	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	749					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	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)					CCTTCCTTTGCACTGAAGAAT	0.393													T	30802093	C	T	30802093	3	4	264	1	0	0	0	0	1	0	0	0	7798	710	25	2	891	2	IPO8	12	30802093	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1142190	30802093	103049802	1089	130607											
C12orf35	55196	broad.mit.edu	37	chr12	32133955	32133955	+	Frame_Shift_Del	DEL	T	T	-													tatcctaaaagccagccaccTtttttgcaccagtctttaat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:32133954_32133954CT>C	uc001rks.3	+	3	479	c.65_65CT>C	c.(64-66)cctfs	p.P22fs		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	22										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AGCCAGCCACCTTTTTTGCAC	0.388													-	32133955	T	-	32133955	7	5	264	1	0	1	0	1	0	0	0	0	1682	1596	56	0	68	0	C12orf35	12	32133955	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1331862	32133955	101717940	1090	130608											
SYT10	341359	broad.mit.edu	37	chr12	33592379	33592379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcccactccacctggcCggcgaagcacagctcggtga	10	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:33592379C>T	uc001rll.1	-	1	376	c.79G>A	c.(79-81)GGC>AGC	p.G27S	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	27	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCCACCTGGCCGGCGAAGCAC	0.607													T	33592379	C	T	33592379	3	4	264	1	0	0	0	0	1	0	0	0	15463	652	23	1	1520	1	SYT10	12	33592379	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1458424	33592379	100259516	1091	130609											
MLL2	8085	broad.mit.edu	37	chr12	49425085	49425085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttgcacattctttgccCggagtagcttctgcaagagc	11	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:49425085C>T	uc001rta.3	-	39	13403	c.13403G>A	c.(13402-13404)CGG>CAG	p.R4468Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4468					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATTCTTTGCCCGGAGTAGCTT	0.617			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49425085	C	T	49425085	3	4	264	1	0	0	0	0	1	0	0	0	9621	652	23	1	3274	1	MLL2	12	49425085	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	15832706	49425085	84426810	1092	130610											
TFCP2	7024	broad.mit.edu	37	chr12	51502902	51502902	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacattgcccaggaatAccttgaaaactttgatctgg	8	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:51502902A>G	uc001rxw.2	-	6	1176	c.717_splice	c.e6+1	p.K239_splice	TFCP2_uc001rxv.1_Splice_Site_p.K239_splice|TFCP2_uc009zlx.1_Intron|TFCP2_uc001rxx.2_Splice_Site_p.K239_splice|TFCP2_uc009zly.1_Splice_Site_p.K141_splice	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2						regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCCAGGAATACCTTGAAAAC	0.393													G	51502902	A	G	51502902	5	3	264	1	0	0	0	0	0	0	1	0	15792	405	14	3	829	3	TFCP2	12	51502902	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2077817	51502902	82348993	1093	130611											
CELA1	1990	broad.mit.edu	37	chr12	51723491	51723491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatccaggagatgtaagCagagacctgggtgaagactg	13	6	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:51723491C>T	uc001ryi.1	-	7	777	c.736G>A	c.(736-738)GCT>ACT	p.A246T		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	246	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			breast(1)	1						GAGATGTAAGCAGAGACCTGG	0.507													T	51723491	C	T	51723491	3	4	264	1	0	0	0	0	1	0	0	0	3210	710	25	2	48	2	CELA1	12	51723491	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	220589	51723491	82128404	1094	130612											
SCN8A	6334	broad.mit.edu	37	chr12	52174462	52174462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccttatagctaatgcCctgggctactcggaactagg	11	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52174462C>T	uc001ryw.2	+	21	4027	c.3849C>T	c.(3847-3849)GCC>GCT	p.A1283A	SCN8A_uc010snl.1_Intron|SCN8A_uc001rza.1_Intron	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1283	III.|Helical; Name=S3 of repeat III; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	tagctaatgccctgggCTACT	0.219													T	52174462	C	T	52174462	2	4	264	1	0	0	0	0	0	0	0	1	13924	610	22	4		4	SCN8A	12	52174462	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	450971	52174462	81677433	1095	130613											
NR4A1	3164	broad.mit.edu	37	chr12	52451148	52451148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaggtctaagccaggCgagggcaagctcatcttctg	12	13	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52451148C>T	uc001rzs.2	+	7	1688	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G	NR4A1_uc010sno.1_Silent_p.G471G|NR4A1_uc001rzt.2_Silent_p.G458G|NR4A1_uc009zmc.2_Missense_Mutation_p.A72V	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	458	Ligand-binding (Potential).				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				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTAAGCCAGGCGAGGGCAAGC	0.607													T	52451148	C	T	52451148	2	4	264	1	0	0	0	0	0	0	0	1	10632	755	27	1		1	NR4A1	12	52451148	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	276686	52451148	81400747	1096	130614											
KRT74	121391	broad.mit.edu	37	chr12	52967361	52967361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaacctccagcccgaacGccgccaccagccacattgaa	7	19	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52967361G>A	uc001sap.1	-	1	249	c.201C>T	c.(199-201)GGC>GGT	p.G67G		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	67	Head.|Gly-rich.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCCCGAACGCCGCCACCAG	0.632													A	52967361	G	A	52967361	2	1	264	1	0	0	0	0	0	0	0	1	8487	1074	38	1		1	KRT74	12	52967361	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	516213	52967361	80884534	1097	130615											
KRT72	140807	broad.mit.edu	37	chr12	52981502	52981502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgagctcctggtactcaCgcagcatccgtgccagctcc	9	17	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52981502C>T	uc001sar.2	-	7	1309	c.1223G>A	c.(1222-1224)CGT>CAT	p.R408H	KRT72_uc001saq.2_Missense_Mutation_p.R408H|KRT72_uc010sns.1_Missense_Mutation_p.R366H|KRT72_uc010snt.1_Missense_Mutation_p.R220H	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	408	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		CTGGTACTCACGCAGCATCCG	0.662													T	52981502	C	T	52981502	3	4	264	1	0	0	0	0	1	0	0	0	8485	536	19	1	324	1	KRT72	12	52981502	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	14141	52981502	80870393	1098	130616											
KRT4	3851	broad.mit.edu	37	chr12	53207880	53207880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggagctatcagagaagtgAcagggcccaggccggtgagt	17	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53207880A>G	uc001saz.2	-	1	456	c.185T>C	c.(184-186)GTC>GCC	p.V62A		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	Error:Variant_position_missing_in_B4DRS2_after_alignment						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						CAGAGAAGTGACAGGGCCCAG	0.602													G	53207880	A	G	53207880	3	3	264	1	0	0	0	0	1	0	0	0	8477	275	10	3	1635	3	KRT4	12	53207880	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	226378	53207880	80644015	1099	130617											
ITGB7	3695	broad.mit.edu	37	chr12	53587625	53587625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagaagccaagggcccggaGcctcaggagatggggctctg	17	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53587625G>T	uc009zmv.2	-	10	1440	c.1369C>A	c.(1369-1371)CTC>ATC	p.L457I	ITGB7_uc001scc.2_Missense_Mutation_p.L457I|ITGB7_uc010snz.1_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	457	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						AGGGCCCGGAGCCTCAGGAGA	0.577													T	53587625	G	T	53587625	3	4	264	1	0	0	0	0	1	0	0	0	7900	971	34	5	1051	5	ITGB7	12	53587625	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	379745	53587625	80264270	1100	130618											
SP7	121340	broad.mit.edu	37	chr12	53722416	53722416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcaattagggcagtcGcaggaggagcgccctgcccc	14	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53722416G>A	uc001sct.2	-	2	917	c.810C>T	c.(808-810)TGC>TGT	p.C270C	SP7_uc001scu.2_Silent_p.C252C|SP7_uc001scv.2_Silent_p.C270C	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAGGGCAGTCGCAGGAGGAGC	0.667													A	53722416	G	A	53722416	2	1	264	1	0	0	0	0	0	0	0	1	14969	1079	38	1		1	SP7	12	53722416	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	134791	53722416	80129479	1101	130619											
SP1	6667	broad.mit.edu	37	chr12	53776184	53776184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtatgttgtggctgcCgctcccaacttacagaacca	11	12	0	1	rs146930500		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53776184C>T	uc001scw.2	+	3	550	c.453C>T	c.(451-453)GCC>GCT	p.A151A	SP1_uc010sog.1_Silent_p.A144A	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	151	Transactivation domain A (Gln-rich).				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			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TTGTGGCTGCCGCTCCCAACT	0.507													T	53776184	C	T	53776184	2	4	264	1	0	0	0	0	0	0	0	1	14959	639	23	1		1	SP1	12	53776184	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	53768	53776184	80075711	1102	130620											
ITGA5	3678	broad.mit.edu	37	chr12	54799076	54799076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggtgctgcaggtagaCgtagaccctgcccacctcct	13	14	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:54799076C>T	uc001sga.2	-	12	1167	c.1099G>A	c.(1099-1101)GTC>ATC	p.V367I	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	367	Extracellular (Potential).|FG-GAP 5.				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			ovary(2)	2						TGCAGGTAGACGTAGACCCTG	0.652													T	54799076	C	T	54799076	3	4	264	1	0	0	0	0	1	0	0	0	7879	536	19	1	2126	1	ITGA5	12	54799076	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1022892	54799076	79052819	1103	130621											
NCKAP1L	3071	broad.mit.edu	37	chr12	54893239	54893239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcccaacatagatgtccGaaacagcacggtgagaactt	8	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:54893239G>A	uc001sgc.3	+	2	282	c.203G>A	c.(202-204)CGA>CAA	p.R68Q	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R18Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	68					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			ovary(3)|central_nervous_system(1)	4						ATAGATGTCCGAAACAGCACG	0.413													A	54893239	G	A	54893239	3	1	264	1	0	0	0	0	1	0	0	0	10222	1058	37	1	209	1	NCKAP1L	12	54893239	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	94163	54893239	78958656	1104	130622											
NCKAP1L	3071	broad.mit.edu	37	chr12	54920358	54920358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccacgacccaggagatcGtacggccttctgagctgttg	12	12	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:54920358G>A	uc001sgc.3	+	21	2282	c.2203G>A	c.(2203-2205)GTA>ATA	p.V735I	NCKAP1L_uc010sox.1_Missense_Mutation_p.V277I|NCKAP1L_uc010soy.1_Missense_Mutation_p.V685I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	735					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			ovary(3)|central_nervous_system(1)	4						CCAGGAGATCGTACGGCCTTC	0.448													A	54920358	G	A	54920358	3	1	264	1	0	0	0	0	1	0	0	0	10222	1145	40	1	2285	1	NCKAP1L	12	54920358	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	27119	54920358	78931537	1105	130623											
ITGA7	3679	broad.mit.edu	37	chr12	56081805	56081805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcagcccagccagtaCagccaggaggatgacccacc	10	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56081805C>T	uc001shh.2	-	24	3365	c.3145G>A	c.(3145-3147)GTA>ATA	p.V1049I	ITGA7_uc001shg.2_Missense_Mutation_p.V1045I|ITGA7_uc010sps.1_Missense_Mutation_p.V952I|ITGA7_uc001shf.2_Missense_Mutation_p.V23I|ITGA7_uc009znw.2_Missense_Mutation_p.V292I|ITGA7_uc009znx.2_Missense_Mutation_p.V926I	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1089	Helical; (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CCAGCCAGTACAGCCAGGAGG	0.617													T	56081805	C	T	56081805	3	4	264	1	0	0	0	0	1	0	0	0	7881	478	17	4	288	4	ITGA7	12	56081805	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1161447	56081805	77770090	1106	130624											
ITGA7	3679	broad.mit.edu	37	chr12	56092271	56092271	+	Frame_Shift_Del	DEL	C	C	-													gggagatcccagcccagtgaCccccctggttcaagtacaca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56092270_56092270AC>A	uc001shh.3	-	6	1321	c.1101_1101GT>T	c.(1099-1101)ggtfs	p.G367fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.G363fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.G270fs|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Frame_Shift_Del_p.G250fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	407					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						CAGCCCAGTGACCCCCCTGGT	0.607													-	56092271	C	-	56092271	7	5	264	1	0	1	0	1	0	0	0	0	7881	507	18	0	2401	0	ITGA7	12	56092271	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	10466	56092271	77759624	1107	130625											
ITGA7	3679	broad.mit.edu	37	chr12	56092588	56092588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggcaccaggcgactggCgctgtccttgcgcaggatga	15	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56092588C>T	uc001shh.2	-	6	1136	c.916G>A	c.(916-918)GCC>ACC	p.A306T	ITGA7_uc001shg.2_Missense_Mutation_p.A302T|ITGA7_uc010sps.1_Missense_Mutation_p.A209T|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.A189T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	346	FG-GAP 4.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						AGGCGACTGGCGCTGTCCTTG	0.632													T	56092588	C	T	56092588	3	4	264	1	0	0	0	0	1	0	0	0	7881	768	27	1	2589	1	ITGA7	12	56092588	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	317	56092588	77759307	1108	130626											
SILV	6490	broad.mit.edu	37	chr12	56348059	56348059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggacaagagcagaagatgCggggtagacgcagccagtga	17	7	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56348059C>T	uc001sip.2	-	11	1956	c.1925G>A	c.(1924-1926)CGC>CAC	p.R642H	SILV_uc001siq.2_Missense_Mutation_p.R649H|SILV_uc010spx.1_Missense_Mutation_p.R556H|SILV_uc001sir.2_Missense_Mutation_p.R642H	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	642	Cytoplasmic (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GCAGAAGATGCGGGGTAGACG	0.527													T	56348059	C	T	56348059	3	4	264	1	0	0	0	0	1	0	0	0	14322	768	27	1	64	1	SILV	12	56348059	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	255471	56348059	77503836	1109	130627											
ESYT1	23344	broad.mit.edu	37	chr12	56531349	56531349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccgtttcttggggggaCtggtgaagggcaagtcagac	16	7	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56531349C>T	uc001sjq.2	+	18	2055	c.2005C>T	c.(2005-2007)CTG>TTG	p.L669L	ESYT1_uc001sjr.2_Silent_p.L679L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	669	C2 3.					integral to membrane				ovary(4)|skin(1)	5						CTTGGGGGGACTGGTGAAGGG	0.542													T	56531349	C	T	56531349	2	4	264	1	0	0	0	0	0	0	0	1	5264	564	20	4		4	ESYT1	12	56531349	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	183290	56531349	77320546	1110	130628											
RNF41	10193	broad.mit.edu	37	chr12	56600349	56600349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcttgccagggatgCgcttggccacgtagttctca	12	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56600349C>T	uc001skf.1	-	7	1205	c.836G>A	c.(835-837)CGC>CAC	p.R279H	RNF41_uc001ske.1_Missense_Mutation_p.R208H|RNF41_uc001skg.1_Missense_Mutation_p.R279H|RNF41_uc010sqg.1_Missense_Mutation_p.R214H|RNF41_uc010sqh.1_Missense_Mutation_p.R208H	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	279					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						GCCAGGGATGCGCTTGGCCAC	0.552											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56600349	C	T	56600349	3	4	264	1	0	0	0	0	1	0	0	0	13494	768	27	1	121	1	RNF41	12	56600349	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	69000	56600349	77251546	1111	130629											
CNPY2	10330	broad.mit.edu	37	chr12	56704996	56704996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgattcccatagctcaccGcaaacttgagggtgccgcta	9	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56704996G>A	uc001sku.1	-	4	948	c.407C>T	c.(406-408)GCG>GTG	p.A136V		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	canopy 2 homolog precursor	136	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding				0						ATAGCTCACCGCAAACTTGAG	0.483													A	56704996	G	A	56704996	3	1	264	1	0	0	0	0	1	0	0	0	3628	1101	38	1	153	1	CNPY2	12	56704996	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	104647	56704996	77146899	1112	130630											
ATP5B	506	broad.mit.edu	37	chr12	57036479	57036479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaccagcctgggtgaagCgaaagatgttatcaataaat	10	7	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:57036479C>T	uc001slr.2	-	6	1034	c.929G>A	c.(928-930)CGC>CAC	p.R310H		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	310					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			ovary(1)	1						CTGGGTGAAGCGAAAGATGTT	0.507													T	57036479	C	T	57036479	3	4	264	1	0	0	0	0	1	0	0	0	1148	768	27	1	680	1	ATP5B	12	57036479	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	331483	57036479	76815416	1113	130631											
STAC3	246329	broad.mit.edu	37	chr12	57640669	57640669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtttcaaacacaggatcaTtgcgattggcagcagctaat	11	8	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:57640669T>C	uc001snp.2	-	6	716	c.521A>G	c.(520-522)AAT>AGT	p.N174S	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.N135S|STAC3_uc010srm.1_5'UTR	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	174					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						CACAGGATCATTGCGATTGGC	0.493													C	57640669	T	C	57640669	3	2	264	1	0	0	0	0	1	0	0	0	15240	1493	52	3	601	3	STAC3	12	57640669	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	604190	57640669	76211226	1114	130632											
GLI1	2735	broad.mit.edu	37	chr12	57864218	57864218	+	Frame_Shift_Del	DEL	C	C	-													tcctccctggcctctcctttCccccctggctccccaccaga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:57864217_57864217TC>T	uc001snx.3	+	11	1788	c.1694_1694TC>T	c.(1693-1695)ttcfs	p.F565fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.F524fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.F437fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	565					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)			GCCTCTCCTTTCCCCCCTGGC	0.642													-	57864218	C	-	57864218	7	5	264	1	0	1	0	1	0	0	0	0	6437	854	30	0	1737	0	GLI1	12	57864218	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	223549	57864218	75987677	1115	130633											
LRIG3	121227	broad.mit.edu	37	chr12	59274454	59274454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcactggcaaattccacCtcgcgcagccgaaggatggt	10	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:59274454C>A	uc001sqr.2	-	13	1956	c.1710G>T	c.(1708-1710)GAG>GAT	p.E570D	LRIG3_uc009zqh.2_Missense_Mutation_p.E510D|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	570	Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAATTCCACCTCGCGCAGCC	0.468													A	59274454	C	A	59274454	3	1	264	1	0	0	0	0	1	0	0	0	8946	680	24	5	1677	5	LRIG3	12	59274454	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1410236	59274454	74577441	1116	130634											
FAM19A2	338811	broad.mit.edu	37	chr12	62148720	62148723	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													gggaagcaggagcacttgacTgtttgtgaccgttcttctat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:62148719_62148722CTGTT>C	uc001sqw.3	-	2	1772_1775	c.190_193AACAG>G	c.(190-195)acagtcfs	p.T64fs	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Frame_Shift_Del_p.T64fs|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	64						cytoplasm		p.V65F(2)		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)		GAGCACTTGACTGTTTGTGACCGT	0.49													-	62148723	TGTT	-	62148720	7	5	264	1	0	1	0	1	0	0	0	0	5532	1567	55	0	215	0	FAM19A2	12	62148720	Frame_Shift_Del	DEL	TGTT	TCGA-HU-A4G8-01A-11D-A25D-08	2874266	62148720	71703175	1117	130635											
MON2	23041	broad.mit.edu	37	chr12	62946683	62946683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatttcagattatttttTccaaagaggggaaactattg	8	4	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:62946683T>C	uc001sre.2	+	24	3330	c.2939T>C	c.(2938-2940)TTC>TCC	p.F980S	MON2_uc009zqj.2_Missense_Mutation_p.F980S|MON2_uc010ssl.1_Missense_Mutation_p.F908S|MON2_uc010ssm.1_Missense_Mutation_p.F957S|MON2_uc010ssn.1_Missense_Mutation_p.F980S|MON2_uc001srf.2_Missense_Mutation_p.F743S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	981					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GATTATTTTTTCCAAAGAGGG	0.338													C	62946683	T	C	62946683	3	2	264	1	0	0	0	0	1	0	0	0	9700	1783	62	3	3033	3	MON2	12	62946683	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	797963	62946683	70905212	1118	130636											
DPY19L2	283417	broad.mit.edu	37	chr12	63954355	63954355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgaagtaaggcctggcGtcttcgagcaggacgctaca	15	9	1	1	rs1064021	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:63954355G>A	uc001srp.1	-	22	2395	c.2214C>T	c.(2212-2214)GAC>GAT	p.D738D	DPY19L2_uc010sso.1_Silent_p.D185D	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	738					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAGGCCTGGCGTCTTCGAGCA	0.453													A	63954355	G	A	63954355	2	1	264	1	0	0	0	0	0	0	0	1	4741	1136	40	1		1	DPY19L2	12	63954355	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1007672	63954355	69897540	1119	130637											
RASSF3	283349	broad.mit.edu	37	chr12	65085254	65085254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttctttacccagtctaCgcctgcaagctctcagaccg	7	14	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:65085254C>T	uc001ssd.2	+	4	582	c.462C>T	c.(460-462)TAC>TAT	p.Y154Y	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Silent_p.Y84Y	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	154	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		ACCCAGTCTACGCCTGCAAGC	0.488													T	65085254	C	T	65085254	2	4	264	1	0	0	0	0	0	0	0	1	13087	547	19	1		1	RASSF3	12	65085254	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1130899	65085254	68766641	1120	130638											
HELB	92797	broad.mit.edu	37	chr12	66696538	66696538	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctgcagtgggggcgTaaaggctggcagcctccccg	17	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:66696538T>G	uc001sti.2	+	1	183	c.155T>G	c.(154-156)GTA>GGA	p.V52G	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	52					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGTGGGGGCGTAAAGGCTGGC	0.632													G	66696538	T	G	66696538	3	3	264	1	0	0	0	0	1	0	0	0	7045	1638	57	5	157	5	HELB	12	66696538	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1611284	66696538	67155357	1121	130639											
RAP1B	5908	broad.mit.edu	37	chr12	69044223	69044223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtagaaaaatacgatcCtacgatagaagattcttata	6	5	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:69044223C>A	uc001sub.2	+	3	264	c.101C>A	c.(100-102)CCT>CAT	p.P34H	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.P34H|RAP1B_uc010stf.1_Missense_Mutation_p.P34H|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Missense_Mutation_p.P34H	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	34	Effector region (Probable).				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		AAATACGATCCTACGATAGAA	0.239													A	69044223	C	A	69044223	3	1	264	1	0	0	0	0	1	0	0	0	13036	681	24	5	107	5	RAP1B	12	69044223	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2347685	69044223	64807672	1122	130640											
FRS2	10818	broad.mit.edu	37	chr12	69968607	69968607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaaacccctaccaggCgcacagagctgtatgccgtg	9	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:69968607C>T	uc001suy.2	+	10	1909	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	FRS2_uc001suz.2_Missense_Mutation_p.R467C|FRS2_uc009zrj.2_Missense_Mutation_p.R467C|FRS2_uc009zrk.2_Missense_Mutation_p.R467C	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	467					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			prostate(1)|kidney(1)	2	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)			CCCTACCAGGCGCACAGAGCT	0.483													T	69968607	C	T	69968607	3	4	264	1	0	0	0	0	1	0	0	0	6061	768	27	1	1417	1	FRS2	12	69968607	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	924384	69968607	63883288	1123	130641											
BEST3	144453	broad.mit.edu	37	chr12	70070713	70070715	+	In_Frame_Del	DEL	AGA	AGA	-													taccttaagccatcctgcatAgaagaagaattgtaggaggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:70070712_70070714TAGA>T	uc001svg.3	-	6	1076_1078	c.849_851TCTA>A	c.(847-852)ttctat>ttAt	p.283_284FY>L	BEST3_uc001svd.2_In_Frame_Del_p.283_284FY>L|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_In_Frame_Del_p.177_178FY>L	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	283						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)			CCATCCTGCATAGAAGAAGAATT	0.473													-	70070715	AGA	-	70070713	7	5	264	1	0	1	0	1	0	0	0	0	1406	420	15	0	1172	0	BEST3	12	70070713	In_Frame_Del	DEL	AGA	TCGA-HU-A4G8-01A-11D-A25D-08	102106	70070713	63781182	1124	130642											
PTPRR	5801	broad.mit.edu	37	chr12	71095090	71095090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccaatgtaagagataCgttggaccctcttctacatt	7	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:71095090C>T	uc001swi.1	-	7	1437	c.1021G>A	c.(1021-1023)GTA>ATA	p.V341I	PTPRR_uc001swh.1_Missense_Mutation_p.V96I|PTPRR_uc009zrs.2_Missense_Mutation_p.V190I|PTPRR_uc010stq.1_Missense_Mutation_p.V229I|PTPRR_uc010str.1_Missense_Mutation_p.V190I	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	341	Cytoplasmic (Potential).				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			skin(2)|ovary(1)	3			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)		GTAAGAGATACGTTGGACCCT	0.408													T	71095090	C	T	71095090	3	4	264	1	0	0	0	0	1	0	0	0	12810	536	19	1	984	1	PTPRR	12	71095090	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1024377	71095090	62756805	1125	130643											
BBS10	79738	broad.mit.edu	37	chr12	76740799	76740801	+	In_Frame_Del	DEL	ATA	ATA	-													gatatgccattcacccctgcAtaataactaactaaatctgg					rs139053702	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:76740798_76740800CATA>C	uc001syd.1	-	1	1049_1051	c.965_967TATG>G	c.(964-969)tatgca>tGca	p.322_323YA>C		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	322					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						TTCACCCCTGCATAATAACTAAC	0.369									Bardet-Biedl syndrome				-	76740801	ATA	-	76740799	7	5	264	1	0	1	0	1	0	0	0	0	1336	224	8	0	1209	0	BBS10	12	76740799	In_Frame_Del	DEL	ATA	TCGA-HU-A4G8-01A-11D-A25D-08	5645709	76740799	57111096	1126	130644											
KITLG	4254	broad.mit.edu	37	chr12	88912498	88912498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagttttctttcacgcaCtccacaaggtcatccactat	6	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:88912498C>T	uc001tav.2	-	4	522	c.339G>A	c.(337-339)GAG>GAA	p.E113E	KITLG_uc009zsn.2_Silent_p.E41E|KITLG_uc001taw.2_Silent_p.E113E|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	113	Extracellular (Potential).				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			ovary(1)	1						CTTTCACGCACTCCACAAGGT	0.373									Testicular_Cancer_Familial_Clustering_of				T	88912498	C	T	88912498	2	4	264	1	0	0	0	0	0	0	0	1	8330	564	20	4		4	KITLG	12	88912498	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	12171699	88912498	44939397	1127	130645											
C12orf12	196477	broad.mit.edu	37	chr12	91348466	91348466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagccacagccgccgccGccaccgccgcccaggttcag	10	22	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:91348466G>A	uc001tbj.2	-	1	488	c.54C>T	c.(52-54)GGC>GGT	p.G18G		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	18	Poly-Gly.									central_nervous_system(1)|pancreas(1)	2						agccgccgccgccaccgccgc	0.512													A	91348466	G	A	91348466	2	1	264	1	0	0	0	0	0	0	0	1	1676	1074	38	1		1	C12orf12	12	91348466	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2435968	91348466	42503429	1128	130646											
LTA4H	4048	broad.mit.edu	37	chr12	96394809	96394809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccagcattgcagtcacGggatgcatgcttgctttgtg	11	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:96394809G>A	uc001ten.1	-	19	1862	c.1794C>T	c.(1792-1794)CCC>CCT	p.P598P	LTA4H_uc010suy.1_Silent_p.P560P|LTA4H_uc010suz.1_3'UTR	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	598					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(1)	1						TTGCAGTCACGGGATGCATGC	0.393													A	96394809	G	A	96394809	2	1	264	1	0	0	0	0	0	0	0	1	9069	1103	39	1		1	LTA4H	12	96394809	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5046343	96394809	37457086	1129	130647											
ELK3	2004	broad.mit.edu	37	chr12	96640852	96640852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacagcgactgcaaggcGtctccggagggccgcgaggc	17	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:96640852G>A	uc001teo.1	+	3	621	c.342G>A	c.(340-342)GCG>GCA	p.A114A		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	114				A -> V (in Ref. 1; CAA85309).	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			ovary(1)	1	all_cancers(2;0.00173)					ACTGCAAGGCGTCTCCGGAGG	0.607													A	96640852	G	A	96640852	2	1	264	1	0	0	0	0	0	0	0	1	5060	1132	40	1		1	ELK3	12	96640852	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	246043	96640852	37211043	1130	130648											
SLC17A8	246213	broad.mit.edu	37	chr12	100806649	100806649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggatttagtggcttcGctatttcaggtaatgtgtcc	11	7	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:100806649G>A	uc010svi.1	+	10	1601	c.1288G>A	c.(1288-1290)GCT>ACT	p.A430T	SLC17A8_uc009ztx.2_Missense_Mutation_p.A380T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	430	Helical; (Potential).				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			ovary(3)	3						TAGTGGCTTCGCTATTTCAGG	0.453													A	100806649	G	A	100806649	3	1	264	1	0	0	0	0	1	0	0	0	14423	1087	38	1	1326	1	SLC17A8	12	100806649	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4165797	100806649	33045246	1131	130649											
ANO4	121601	broad.mit.edu	37	chr12	101381385	101381385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaggctggacaaggagaCactgccagacctggaggaga	15	8	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:101381385C>T	uc010svm.1	+	8	1243	c.671C>T	c.(670-672)ACA>ATA	p.T224I	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.T189I|ANO4_uc001thx.2_Missense_Mutation_p.T224I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	224	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GACAAGGAGACACTGCCAGAC	0.488										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	101381385	C	T	101381385	3	4	264	1	0	0	0	0	1	0	0	0	699	478	17	4	588	4	ANO4	12	101381385	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	574736	101381385	32470510	1132	130650											
UTP20	27340	broad.mit.edu	37	chr12	101685882	101685882	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagaaaccatagaaaaAgtaatttacttcaacaaata	3	6	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:101685882A>G	uc001tia.1	+	10	1329	c.1173A>G	c.(1171-1173)AAA>AAG	p.K391K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	391					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			ovary(2)|breast(2)	4						CCATAGAAAAAGTAatttact	0.229													G	101685882	A	G	101685882	2	3	264	1	0	0	0	0	0	0	0	1	17096	86	3	3		3	UTP20	12	101685882	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	304497	101685882	32166013	1133	130651											
UTP20	27340	broad.mit.edu	37	chr12	101764871	101764871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgttggtcccagaaatCgatgaggtcatgcggaaagt	13	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:101764871C>T	uc001tia.1	+	51	6879	c.6723C>T	c.(6721-6723)ATC>ATT	p.I2241I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2241					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			ovary(2)|breast(2)	4						TCCCAGAAATCGATGAGGTCA	0.448													T	101764871	C	T	101764871	2	4	264	1	0	0	0	0	0	0	0	1	17096	874	31	1		1	UTP20	12	101764871	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	78989	101764871	32087024	1134	130652											
GNPTAB	79158	broad.mit.edu	37	chr12	102158268	102158268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttgctgtggtctccaaGtccaggggtggattctgacc	12	10	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:102158268G>A	uc001tit.2	-	13	2606	c.2427C>T	c.(2425-2427)GAC>GAT	p.D809D		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	809					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TGGTCTCCAAGTCCAGGGGTG	0.463													A	102158268	G	A	102158268	2	1	264	1	0	0	0	0	0	0	0	1	6545	1020	36	4		4	GNPTAB	12	102158268	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	393397	102158268	31693627	1135	130653											
HSP90B1	7184	broad.mit.edu	37	chr12	104335305	104335305	+	Frame_Shift_Del	DEL	A	A	-													tgtttgacgaatatggatctAaaaagagcgattacattaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:104335304_104335304TA>T	uc001tkb.1	+	8	1314	c.1209_1209TA>T	c.(1207-1209)tctfs	p.S403fs	HSP90B1_uc010swg.1_Frame_Shift_Del_p.S68fs|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	403					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|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|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase 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)	AATATGGATCTAAAAAGAGCG	0.343													-	104335305	A	-	104335305	7	5	264	1	0	1	0	1	0	0	0	0	7403	363	13	0	1244	0	HSP90B1	12	104335305	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	2177037	104335305	29516590	1136	130654											
BTBD11	121551	broad.mit.edu	37	chr12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-													caagcaccacggcaatggcaCccccctgcaccacaagcagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:107937777_107937777AC>A	uc001tmk.1	+	2	1872	c.1351_1351AC>A	c.(1351-1353)accfs	p.T451fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T451fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGCAATGGCACCCCCCTGCA	0.577													-	107937778	C	-	107937778	7	5	264	1	0	1	0	1	0	0	0	0	1539	507	18	0	1362	0	BTBD11	12	107937778	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	3602473	107937778	25914117	1137	130655											
PWP1	11137	broad.mit.edu	37	chr12	108090314	108090317	+	Frame_Shift_Del	DEL	TGAG	TGAG	-													actcttgtctgcatatcctcTgagtgtggaatggctgaatt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:108090313_108090316CTGAG>C	uc001tmo.1	+	5	652_655	c.565_568CTGAG>C	c.(565-570)ctgagtfs	p.L189fs	PWP1_uc001tmn.1_Non-coding_Transcript	NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	189					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGCATATCCTCTGAGTGTGGAATG	0.338													-	108090317	TGAG	-	108090314	7	5	264	1	0	1	0	1	0	0	0	0	12843	1580	55	0	588	0	PWP1	12	108090314	Frame_Shift_Del	DEL	TGAG	TCGA-HU-A4G8-01A-11D-A25D-08	152536	108090314	25761581	1138	130656											
ACACB	32	broad.mit.edu	37	chr12	109694009	109694009	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaggaaatcatggcaccCtgggcgcagaccgtggtgac	13	11	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:109694009C>A	uc001tob.2	+	45	6350	c.6231C>A	c.(6229-6231)CCC>CCA	p.P2077P	ACACB_uc001toc.2_Silent_p.P2077P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P743P	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2077	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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCATGGCACCCTGGGCGCAGA	0.602													A	109694009	C	A	109694009	2	1	264	1	0	0	0	0	0	0	0	1	107	668	24	5		5	ACACB	12	109694009	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1603695	109694009	24157886	1139	130657											
UBE3B	89910	broad.mit.edu	37	chr12	109972426	109972426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactctgggcagcgtcctcCggggcttcttcaccatccgc	10	17	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:109972426C>T	uc001top.2	+	28	3649	c.3046C>T	c.(3046-3048)CGG>TGG	p.R1016W	UBE3B_uc001toq.2_Missense_Mutation_p.R1016W|UBE3B_uc001tos.2_Missense_Mutation_p.R443W|UBE3B_uc001tot.2_Missense_Mutation_p.R134W|UBE3B_uc010sxp.1_3'UTR	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1016	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CAGCGTCCTCCGGGGCTTCTT	0.632													T	109972426	C	T	109972426	3	4	264	1	0	0	0	0	1	0	0	0	16877	643	23	1	3148	1	UBE3B	12	109972426	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	278417	109972426	23879469	1140	130658											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc					rs104895373		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662													-	110019240	C	-	110019240	7	5	264	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	46814	110019240	23832655	1141	130659											
IFT81	28981	broad.mit.edu	37	chr12	110581305	110581305	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttacaaaaagtagtttcAgagccagctatgggccattc	8	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:110581305A>G	uc001tqi.2	+	9	1030	c.900A>G	c.(898-900)TCA>TCG	p.S300S	IFT81_uc001tqh.2_Silent_p.S300S|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.S300S	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	300					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						AAGTAGTTTCAGAGCCAGCTA	0.294													G	110581305	A	G	110581305	2	3	264	1	0	0	0	0	0	0	0	1	7565	175	7	3		3	IFT81	12	110581305	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	562065	110581305	23270590	1142	130660											
ALDH2	217	broad.mit.edu	37	chr12	112229169	112229169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggccccacggctggggcCgccattgcctcccatgagga	13	15	0	1	rs111277749		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:112229169C>T	uc001tst.2	+	7	1182	c.741C>T	c.(739-741)GCC>GCT	p.A247A	ALDH2_uc010syi.1_Silent_p.A200A|ALDH2_uc009zvy.2_Intron	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	247				A -> P (in Ref. 13; AAA62825).	carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CGGCTGGGGCCGCCATTGCCT	0.602			T	HMGA2	leiomyoma								T	112229169	C	T	112229169	2	4	264	1	0	0	0	0	0	0	0	1	496	639	23	1		1	ALDH2	12	112229169	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1647864	112229169	21622726	1143	130661											
C12orf51	283450	broad.mit.edu	37	chr12	112681278	112681278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgcgagtgtttccccGccgccaccttgtctgtgcag	11	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:112681278G>A	uc009zwc.2	-	25	3589	c.3571C>T	c.(3571-3573)CGG>TGG	p.R1191W		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTGTTTCCCCGCCGCCACCTT	0.592													A	112681278	G	A	112681278	3	1	264	1	0	0	0	0	1	0	0	0	1696	1086	38	1	8599	1	C12orf51	12	112681278	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	452109	112681278	21170617	1144	130662											
RASAL1	8437	broad.mit.edu	37	chr12	113542071	113542071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctacgcgctccacggcGcggatgtgagacacggggat	15	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:113542071G>A	uc001tum.1	-	18	2153	c.1860C>T	c.(1858-1860)CGC>CGT	p.R620R	RASAL1_uc010syp.1_Silent_p.R621R|RASAL1_uc001tul.2_Intron|RASAL1_uc001tun.1_Silent_p.R622R|RASAL1_uc010syq.1_Silent_p.R621R|RASAL1_uc001tuo.3_Silent_p.R621R	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	620	PH.				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			ovary(2)|skin(2)	4						GCTCCACGGCGCGGATGTGAG	0.667													A	113542071	G	A	113542071	2	1	264	1	0	0	0	0	0	0	0	1	13063	1074	38	1		1	RASAL1	12	113542071	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	860793	113542071	20309824	1145	130663											
TBX5	6910	broad.mit.edu	37	chr12	114793463	114793463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaagggtgccaggggaCtgcaggccagtctgaggccc	18	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:114793463C>T	uc001tvo.2	-	9	1926	c.1431G>A	c.(1429-1431)CAG>CAA	p.Q477Q	TBX5_uc001tvp.2_Silent_p.Q477Q|TBX5_uc001tvq.2_Silent_p.Q427Q	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	477					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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGCCAGGGGACTGCAGGCCAG	0.622													T	114793463	C	T	114793463	2	4	264	1	0	0	0	0	0	0	0	1	15658	564	20	4		4	TBX5	12	114793463	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1251392	114793463	19058432	1146	130664											
MED13L	23389	broad.mit.edu	37	chr12	116408550	116408550	+	Frame_Shift_Del	DEL	A	A	-													ttcagtgcagtacttcggccAaaaacagagcccattgtgac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:116408550delA	uc001tvw.2	-	27	5971	c.5916delT	c.(5914-5916)TTTfs	p.F1972fs		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1972					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TACTTCGGCCAAAAACAGAGC	0.428													-	116408550	A	-	116408550	7	5	264	1	0	1	0	1	0	0	0	0	9431	127	5	0	736	0	MED13L	12	116408550	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1615087	116408550	17443345	1147	130665											
FBXO21	23014	broad.mit.edu	37	chr12	117593747	117593747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagatcacacagttataGccatacctagttaacacagg	7	11	1	1	rs61999294	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:117593747G>A	uc001twk.2	-	11	1584	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	FBXO21_uc001twj.2_Silent_p.G508G|FBXO21_uc009zwq.2_Silent_p.G448G|FBXO21_uc001twl.1_Silent_p.G128G	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	515					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CACAGTTATAGCCATACCTAG	0.587											OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	117593747	G	A	117593747	2	1	264	1	0	0	0	0	0	0	0	1	5733	958	34	2		2	FBXO21	12	117593747	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1185197	117593747	16258148	1148	130666											
GCN1L1	10985	broad.mit.edu	37	chr12	120576551	120576551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagagcctggtggccgatgGtggaatgcagctgctcgaaa	15	10	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:120576551G>T	uc001txo.2	-	46	6117	c.6104C>A	c.(6103-6105)ACC>AAC	p.T2035N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2035	HEAT 17.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGCCGATGGTGGAATGCAG	0.552													T	120576551	G	T	120576551	3	4	264	1	0	0	0	0	1	0	0	0	6299	1261	44	5	1963	5	GCN1L1	12	120576551	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2982804	120576551	13275344	1149	130667											
GCN1L1	10985	broad.mit.edu	37	chr12	120591163	120591163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagctggcatcattgggcgCgttcttcaggaactcctcga	11	11	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:120591163C>T	uc001txo.2	-	33	3929	c.3916G>A	c.(3916-3918)GCG>ACG	p.A1306T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1306	HEAT 5.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATTGGGCGCGTTCTTCAGG	0.562													T	120591163	C	T	120591163	3	4	264	1	0	0	0	0	1	0	0	0	6299	768	27	1	4203	1	GCN1L1	12	120591163	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	14612	120591163	13260732	1150	130668											
KDM2B	84678	broad.mit.edu	37	chr12	121970820	121970820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacagcacccactcctcGtacagcgccaaattgtgcag	8	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:121970820G>A	uc001uat.2	-	8	926	c.822C>T	c.(820-822)TAC>TAT	p.Y274Y	KDM2B_uc001uas.2_Silent_p.Y243Y|KDM2B_uc001uau.2_Silent_p.Y157Y|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	274	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			ovary(1)|skin(1)	2						CCCACTCCTCGTACAGCGCCA	0.517													A	121970820	G	A	121970820	2	1	264	1	0	0	0	0	0	0	0	1	8125	1140	40	1		1	KDM2B	12	121970820	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1379657	121970820	11881075	1151	130669											
DDX55	57696	broad.mit.edu	37	chr12	124094656	124094656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagaagaccccctcccGcctggaaaactactacatgg	8	16	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124094656G>T	uc001ufi.2	+	7	746	c.722G>T	c.(721-723)CGC>CTC	p.R241L	DDX55_uc001ufh.2_Missense_Mutation_p.R94L|DDX55_uc001ufj.1_Missense_Mutation_p.R94L|DDX55_uc001ufk.2_Missense_Mutation_p.R94L	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	241							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACCCCCTCCCGCCTGGAAAAC	0.537													T	124094656	G	T	124094656	3	4	264	1	0	0	0	0	1	0	0	0	4373	1087	38	5	748	5	DDX55	12	124094656	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2123836	124094656	9757239	1152	130670											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124218472	124218472	+	Splice_Site	DEL	G	G	-													atccttattcattctttgtaGggggaagtcataaaatggta							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124218471_124218471AG>A	uc001ufr.3	+	7	897	c.649_splice	c.e7-2	p.G217_splice	ATP6V0A2_uc001ufq.1_Splice_Site_p.G217_splice	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	217					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	p.?(1)		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)		CATTCTTTGTAGGGGGAAGTC	0.363													-	124218472	G	-	124218472	8	5	264	1	0	1	0	1	0	0	1	0	1169	1014	35	0	674	0	ATP6V0A2	12	124218472	Splice_Site	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	123816	124218472	9633423	1153	130671											
DNAH10	196385	broad.mit.edu	37	chr12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtttcggaagatcttgCgggctgaagggcgcgtggag	19	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124325980C>T	uc001uft.3	+	29	4919	c.4894C>T	c.(4894-4896)CGG>TGG	p.R1632W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		GAAGATCTTGCGGGCTGAAGG	0.453													T	124325980	C	T	124325980	3	4	264	1	0	0	0	0	1	0	0	0	4598	759	27	1	5008	1	DNAH10	12	124325980	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	107508	124325980	9525915	1154	130672											
NCOR2	9612	broad.mit.edu	37	chr12	124911328	124911328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatcacggccagctggcGcatctgcttctccaggttct	12	14	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124911328G>A	uc010tba.1	-	11	1285	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C	NCOR2_uc010tay.1_Missense_Mutation_p.R390C|NCOR2_uc010taz.1_Missense_Mutation_p.R390C|NCOR2_uc010tbb.1_Missense_Mutation_p.R390C|NCOR2_uc010tbc.1_Missense_Mutation_p.R389C|NCOR2_uc001ugj.1_Missense_Mutation_p.R390C|NCOR2_uc001ugk.1_Missense_Mutation_p.R390C	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	390					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			skin(3)|ovary(1)	4	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)		GCCAGCTGGCGCATCTGCTTC	0.632													A	124911328	G	A	124911328	3	1	264	1	0	0	0	0	1	0	0	0	10236	1087	38	1	6548	1	NCOR2	12	124911328	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	585348	124911328	8940567	1155	130673											
FZD10	11211	broad.mit.edu	37	chr12	130648101	130648101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacgtggagaagagcgCgtcgtgcgcgccgctctgca	14	15	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:130648101C>T	uc001uii.2	+	1	1070	c.614C>T	c.(613-615)GCG>GTG	p.A205V	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	205	Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		GAGAAGAGCGCGTCGTGCGCG	0.622													T	130648101	C	T	130648101	3	4	264	1	0	0	0	0	1	0	0	0	6129	768	27	1	616	1	FZD10	12	130648101	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5736773	130648101	3203794	1156	130674											
MMP17	4326	broad.mit.edu	37	chr12	132334499	132334499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggaccagctgtactggCgctacgatgaccacacgagg	12	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:132334499C>T	uc001ujc.1	+	9	1456	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	MMP17_uc001ujd.1_Missense_Mutation_p.R369C	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	453	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCTGTACTGGCGCTACGATGA	0.652													T	132334499	C	T	132334499	3	4	264	1	0	0	0	0	1	0	0	0	9656	768	27	1	1391	1	MMP17	12	132334499	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1686398	132334499	1517396	1157	130675											
EP400	57634	broad.mit.edu	37	chr12	132445666	132445666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcagcagccctacaGggggcttcgtggatgccagc	14	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:132445666G>T	uc001ujn.2	+	1	537	c.502G>T	c.(502-504)GGG>TGG	p.G168W	EP400_uc001ujl.2_Missense_Mutation_p.G168W|EP400_uc001ujm.2_Missense_Mutation_p.G168W|EP400_uc001ujj.1_Missense_Mutation_p.G168W|EP400_uc001ujk.2_Missense_Mutation_p.G168W	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	168					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CAGCCCTACAGGGGGCTTCGT	0.662													T	132445666	G	T	132445666	3	4	264	1	0	0	0	0	1	0	0	0	5149	1000	35	5	504	5	EP400	12	132445666	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	111167	132445666	1406229	1158	130676											
PXMP2	5827	broad.mit.edu	37	chr12	133281219	133281219	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcagttccgggtgctcttCgccaacctggcagctctgtt	12	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:133281219C>T	uc001ukt.2	+	5	599	c.534C>T	c.(532-534)TTC>TTT	p.F178F	PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	178	Helical; (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	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)		GGGTGCTCTTCGCCAACCTGG	0.592													T	133281219	C	T	133281219	2	4	264	1	0	0	0	0	0	0	0	1	12850	883	31	1		1	PXMP2	12	133281219	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	835553	133281219	570676	1159	130677											
CHFR	55743	broad.mit.edu	37	chr12	133419637	133419637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtgcggcagttacggcCccagtagcagtcaggacggg	16	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:133419637C>T	uc001ulf.2	-	17	1996	c.1912G>A	c.(1912-1914)GGC>AGC	p.G638S	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.G626S|CHFR_uc010tbs.1_Missense_Mutation_p.G637S|CHFR_uc001uld.2_Missense_Mutation_p.G597S|CHFR_uc010tbt.1_Missense_Mutation_p.G546S	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	638	PBZ-type.				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			skin(1)	1	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)		CAGTTACGGCCCCAGTAGCAG	0.557													T	133419637	C	T	133419637	3	4	264	1	0	0	0	0	1	0	0	0	3337	623	22	4	90	4	CHFR	12	133419637	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	138418	133419637	432258	1160	130678											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20216317	20216317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgatacctgggagccCgagattcacctggaggactg	14	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:20216317C>T	uc001umh.2	+	2	285	c.276C>T	c.(274-276)CCC>CCT	p.P92P	MPHOSPH8_uc001umf.1_Silent_p.P92P|MPHOSPH8_uc001umg.2_Silent_p.P92P	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	92	Chromo.				cell cycle	cytoplasm|nucleus					0		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)		CCTGGGAGCCCGAGATTCACC	0.398													T	20216317	C	T	20216317	2	4	264	1	0	0	0	0	0	0	0	1	9727	639	23	1		1	MPHOSPH8	13	20216317	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08		20216317	94953561	1161	130679											
SACS	26278	broad.mit.edu	37	chr13	23929463	23929463	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctccttttgcttcatcatCtctgcttgataaaggcatgg	8	10	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:23929463C>A	uc001uon.2	-	8	1877	c.1288G>T	c.(1288-1290)GAT>TAT	p.D430Y	SACS_uc001uoo.2_Missense_Mutation_p.D283Y|SACS_uc001uop.1_Missense_Mutation_p.D217Y|SACS_uc001uoq.1_Missense_Mutation_p.D283Y	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	430					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GCTTCATCATCTCTGCTTGAT	0.458													A	23929463	C	A	23929463	3	1	264	1	0	0	0	0	1	0	0	0	13804	913	32	5	12463	5	SACS	13	23929463	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3713146	23929463	91240415	1162	130680											
FAM123A	219287	broad.mit.edu	37	chr13	25744119	25744119	+	Frame_Shift_Del	DEL	G	G	-													gtccccgctgtagctatcccGggggatgcccgccttcttcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:25744119delG	uc001uqb.2	-	1	1739	c.1639delC	c.(1639-1641)CGGfs	p.R547fs	FAM123A_uc001uqa.2_Frame_Shift_Del_p.R428fs|FAM123A_uc001uqc.2_Frame_Shift_Del_p.R428fs	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	547										ovary(2)|large_intestine(1)|lung(1)	4		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)		TAGCTATCCCGGGGGATGCCC	0.642													-	25744119	G	-	25744119	7	5	264	1	0	1	0	1	0	0	0	0	5422	1115	39	0	380	0	FAM123A	13	25744119	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	1814656	25744119	89425759	1163	130681											
FAM123A	219287	broad.mit.edu	37	chr13	25745711	25745711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggacgcgccagctccgccgCgctcgctgacagccccgccg	13	21	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:25745711C>A	uc001uqb.2	-	1	147	c.47G>T	c.(46-48)CGC>CTC	p.R16L	FAM123A_uc001uqa.2_Missense_Mutation_p.R16L|FAM123A_uc001uqc.2_Missense_Mutation_p.R16L	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	16	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		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)		AGCTCCGCCGCGCTCGCTGAC	0.726													A	25745711	C	A	25745711	3	1	264	1	0	0	0	0	1	0	0	0	5422	768	27	5	1972	5	FAM123A	13	25745711	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1592	25745711	89424167	1164	130682											
ATP8A2	51761	broad.mit.edu	37	chr13	26133873	26133873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtcacttcccagaatTggcaagagagccgtcttcag	11	11	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:26133873T>C	uc001uqk.2	+	15	1509	c.1367T>C	c.(1366-1368)TTG>TCG	p.L456S	ATP8A2_uc010tdi.1_Missense_Mutation_p.L416S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.L416S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	416	Cytoplasmic (Potential).				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			ovary(2)|large_intestine(1)|skin(1)	4		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)		TTCCCAGAATTGGCAAGAGAG	0.363													C	26133873	T	C	26133873	3	2	264	1	0	0	0	0	1	0	0	0	1193	1821	63	3	1425	3	ATP8A2	13	26133873	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	388162	26133873	89036005	1165	130683											
POLR1D	51082	broad.mit.edu	37	chr13	28197233	28197233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagcaaaattaatttacGcattcagactcgaggtaccc	8	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:28197233G>A	uc010tdm.1	+	3	1278	c.248G>A	c.(247-249)CGC>CAC	p.R83H	LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.R83H|POLR1D_uc001urp.2_Intron	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 1	83					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|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		ATTAATTTACGCATTCAGACT	0.453													A	28197233	G	A	28197233	3	1	264	1	0	0	0	0	1	0	0	0	12212	1087	38	1	254	1	POLR1D	13	28197233	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2063360	28197233	86972645	1166	130684											
PAN3	255967	broad.mit.edu	37	chr13	28834652	28834652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatgcaaccgaaagcaaaCgcaccttccttcttcatggc	6	13	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:28834652C>T	uc001urz.2	+	7	887	c.879C>T	c.(877-879)AAC>AAT	p.N293N	PAN3_uc010tdo.1_Silent_p.N439N|PAN3_uc001ury.2_Silent_p.N127N|PAN3_uc001urx.2_Silent_p.N239N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	439	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			ovary(1)	1	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)		CGAAAGCAAACGCACCTTCCT	0.413													T	28834652	C	T	28834652	2	4	264	1	0	0	0	0	0	0	0	1	11415	535	19	1		1	PAN3	13	28834652	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	637419	28834652	86335226	1167	130685											
USPL1	10208	broad.mit.edu	37	chr13	31232943	31232943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctcttatgtcttcccCgcaaagcagaacagttcgaa	8	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:31232943C>T	uc001utc.2	+	9	3161	c.2729C>T	c.(2728-2730)CCG>CTG	p.P910L	USPL1_uc001utd.2_Missense_Mutation_p.P581L|USPL1_uc001ute.1_Missense_Mutation_p.P581L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	910					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATGTCTTCCCCGCAAAGCAGA	0.408													T	31232943	C	T	31232943	3	4	264	1	0	0	0	0	1	0	0	0	17089	652	23	1	2759	1	USPL1	13	31232943	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2398291	31232943	83936935	1168	130686											
FRY	10129	broad.mit.edu	37	chr13	32653072	32653072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctacccatcaatgtggacCcagacagtaaaccaggagaa	9	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:32653072C>A	uc001utx.2	+	2	668	c.172C>A	c.(172-174)CCA>ACA	p.P58T	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		CAATGTGGACCCAGACAGTAA	0.512													A	32653072	C	A	32653072	3	1	264	1	0	0	0	0	1	0	0	0	6063	623	22	5	178	5	FRY	13	32653072	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1420129	32653072	82516806	1169	130687											
BRCA2	675	broad.mit.edu	37	chr13	32907096	32907096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatctggaacttctccagTggcttcttcatttcagggta	8	9	5	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:32907096T>C	uc001uub.1	+	10	1708	c.1481T>C	c.(1480-1482)GTG>GCG	p.V494A	BRCA2_uc001uua.1_Missense_Mutation_p.V371A	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	494					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		ACTTCTCCAGTGGCTTCTTCA	0.383			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			C	32907096	T	C	32907096	3	2	264	1	0	0	0	0	1	0	0	0	1499	1696	59	3	1515	3	BRCA2	13	32907096	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	254024	32907096	82262782	1170	130688											
KL	9365	broad.mit.edu	37	chr13	33590920	33590920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgccgttgggcgccccGtcgccgctgcagcccgccac	13	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:33590920G>A	uc001uus.2	+	1	350	c.342G>A	c.(340-342)CCG>CCA	p.P114P	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	114	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|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			large_intestine(1)|ovary(1)|skin(1)	3	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)		TGGGCGCCCCGTCGCCGCTGC	0.697													A	33590920	G	A	33590920	2	1	264	1	0	0	0	0	0	0	0	1	8331	1132	40	1		1	KL	13	33590920	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	683824	33590920	81578958	1171	130689											
NBEA	26960	broad.mit.edu	37	chr13	35733237	35733237	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaacattaaaaagggaAagaaagggaatgtgagcacc	12	4	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:35733237A>T	uc001uvb.2	+	23	3135	c.2929A>T	c.(2929-2931)AAG>TAG	p.K977*	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	977						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TAAAAAGGGAAAGAAAGGGAA	0.383													T	35733237	A	T	35733237	4	4	264	1	0	0	0	0	0	1	0	0	10187	15	1	5	3015	5	NBEA	13	35733237	Nonsense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2142317	35733237	79436641	1172	130690											
NBEA	26960	broad.mit.edu	37	chr13	35734077	35734077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgtaccaaatattgatGcaggaagtataatttcagat	7	4	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:35734077G>A	uc001uvb.2	+	23	3975	c.3769G>A	c.(3769-3771)GCA>ACA	p.A1257T	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1257						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AAATATTGATGCAGGAAGTAT	0.388													A	35734077	G	A	35734077	3	1	264	1	0	0	0	0	1	0	0	0	10187	1319	46	2	3855	2	NBEA	13	35734077	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	840	35734077	79435801	1173	130691											
DCLK1	9201	broad.mit.edu	37	chr13	36445442	36445442	+	Frame_Shift_Del	DEL	T	T	-													cctgcgggatgatgaagctaTtttggtgtaagaagtggact							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:36445441_36445441AT>A	uc001uvf.3	-	4	1143	c.860_860AT>T	c.(859-861)atafs	p.I287fs	MAB21L1_uc001uvc.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	287					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)		TGATGAAGCTATTTTGGTGTA	0.507													-	36445442	T	-	36445442	7	5	264	1	0	1	0	1	0	0	0	0	4291	1493	52	0	1386	0	DCLK1	13	36445442	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	711365	36445442	78724436	1174	130692											
DCLK1	9201	broad.mit.edu	37	chr13	36686023	36686023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtttcccatccaacgTgtacaggcgtttcaccactc	6	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:36686023T>C	uc001uvf.2	-	3	939	c.706A>G	c.(706-708)ACG>GCG	p.T236A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	236	Doublecortin 2.				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			stomach(6)|ovary(2)|skin(1)	9		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)		CCATCCAACGTGTACAGGCGT	0.483													C	36686023	T	C	36686023	3	2	264	1	0	0	0	0	1	0	0	0	4291	1696	59	3	1547	3	DCLK1	13	36686023	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	240581	36686023	78483855	1175	130693											
RFXAP	5994	broad.mit.edu	37	chr13	37401883	37401883	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagcagtttccaggaacatCaatgtgagggaacttaccaa	9	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:37401883C>A	uc001uvu.1	+	3	968	c.812C>A	c.(811-813)TCA>TAA	p.S271*		NM_000538	NP_000529	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	271						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1		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)		CCAGGAACATCAATGTGAGGG	0.338													A	37401883	C	A	37401883	4	1	264	1	0	0	0	0	0	1	0	0	13270	838	29	5	822	5	RFXAP	13	37401883	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	715860	37401883	77767995	1176	130694											
FREM2	341640	broad.mit.edu	37	chr13	39357245	39357247	+	In_Frame_Del	DEL	GAA	GAA	-													cccagtccaaatactccgttGaagaagatgttggtgagctg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:39357245_39357247delGAA	uc001uwv.2	+	5	5989_5991	c.5680_5682delGAA	c.(5680-5682)GAAdel	p.E1895del	FREM2_uc001uww.2_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1895	Extracellular (Potential).|Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		ATACTCCGTTGAAGAAGATGTTG	0.448													-	39357247	GAA	-	39357245	7	5	264	1	0	1	0	1	0	0	0	0	6045	1291	45	0	5698	0	FREM2	13	39357245	In_Frame_Del	DEL	GAA	TCGA-HU-A4G8-01A-11D-A25D-08	1955362	39357245	75812633	1177	130695											
COG6	57511	broad.mit.edu	37	chr13	40293455	40293455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgaagttttagcatctcAcgattcttcagttgtaccat	8	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:40293455A>G	uc001uxh.2	+	14	1467	c.1367A>G	c.(1366-1368)CAC>CGC	p.H456R	COG6_uc001uxi.2_Missense_Mutation_p.H404R|COG6_uc010acb.2_Missense_Mutation_p.H456R	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	456					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTAGCATCTCACGATTCTTCA	0.373													G	40293455	A	G	40293455	3	3	264	1	0	0	0	0	1	0	0	0	3662	159	6	3	1421	3	COG6	13	40293455	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	936210	40293455	74876423	1178	130696											
KIAA0564	23078	broad.mit.edu	37	chr13	42303690	42303690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcacttgcaacaatgcGtcttccatctgctagaatca	5	12	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:42303690G>A	uc001uyj.2	-	23	2696	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	KIAA0564_uc001uyk.2_Missense_Mutation_p.R876C	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	876						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GCAACAATGCGTCTTCCATCT	0.328													A	42303690	G	A	42303690	3	1	264	1	0	0	0	0	1	0	0	0	8185	1145	40	1	3187	1	KIAA0564	13	42303690	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2010235	42303690	72866188	1179	130697											
TSC22D1	8848	broad.mit.edu	37	chr13	45149755	45149755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacacatcaaggatctcCgaagaagagagatcttccgt	10	9	3	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:45149755C>T	uc001uzn.3	-	1	947	c.456G>A	c.(454-456)TCG>TCA	p.S152S	TSC22D1_uc001uzo.1_Silent_p.S152S	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	152					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		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)		CAAGGATCTCCGAAGAAGAGA	0.493													T	45149755	C	T	45149755	2	4	264	1	0	0	0	0	0	0	0	1	16604	639	23	1		1	TSC22D1	13	45149755	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2846065	45149755	70020123	1180	130698											
CPB2	1361	broad.mit.edu	37	chr13	46632459	46632459	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgccttcacttctggttctGactcaggataaagtccacag	8	12	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:46632459G>A	uc001vaw.2	-	9	921	c.854C>T	c.(853-855)TCA>TTA	p.S285L	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.S248L	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	285					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		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)		TTCTGGTTCTGACTCAGGATA	0.418													A	46632459	G	A	46632459	3	1	264	1	0	0	0	0	1	0	0	0	3797	1294	45	4	429	4	CPB2	13	46632459	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1482704	46632459	68537419	1181	130699											
THSD1	55901	broad.mit.edu	37	chr13	52971460	52971460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacttattcttccccaTgtcaaacaaagtacagttaa	5	10	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:52971460T>C	uc001vgo.2	-	3	1473	c.928A>G	c.(928-930)ATG>GTG	p.M310V	THSD1_uc001vgp.2_Missense_Mutation_p.M310V|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	310	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.M310I(1)		ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		TTCTTCCCCATGTCAAACAAA	0.458													C	52971460	T	C	52971460	3	2	264	1	0	0	0	0	1	0	0	0	15874	1464	51	3	1642	3	THSD1	13	52971460	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	6339001	52971460	62198418	1182	130700											
TDRD3	81550	broad.mit.edu	37	chr13	61102848	61102848	+	Frame_Shift_Del	DEL	A	A	-													agcatagtgatggtgcttttAaaaaaagagataactctatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:61102848delA	uc001via.2	+	11	1998	c.1210delA	c.(1210-1212)AAAfs	p.K404fs	TDRD3_uc010aef.2_Frame_Shift_Del_p.K229fs|TDRD3_uc001vhz.3_Frame_Shift_Del_p.K404fs|TDRD3_uc010aeg.2_Frame_Shift_Del_p.K497fs|TDRD3_uc001vib.3_Frame_Shift_Del_p.K403fs	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	404					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGTGCTTTTAAAAAAAGAGA	0.368													-	61102848	A	-	61102848	7	5	264	1	0	1	0	1	0	0	0	0	15729	363	13	0	1531	0	TDRD3	13	61102848	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	8131388	61102848	54067030	1183	130701											
MYCBP2	23077	broad.mit.edu	37	chr13	77636771	77636771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttcccatccatctccccGaggagagacgatctacgtgg	9	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:77636771G>A	uc001vkf.2	-	75	12711	c.12620C>T	c.(12619-12621)TCG>TTG	p.S4207L	MYCBP2_uc010aev.2_Missense_Mutation_p.S3611L|MYCBP2_uc001vke.2_Missense_Mutation_p.S824L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCTCCCCGAGGAGAGACG	0.423													A	77636771	G	A	77636771	3	1	264	1	0	0	0	0	1	0	0	0	10018	1059	37	1	1342	1	MYCBP2	13	77636771	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	16533923	77636771	37533107	1184	130702											
SLITRK6	84189	broad.mit.edu	37	chr13	86368498	86368498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagacttctttggagatGttttgcatcacttccttctt	6	9	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:86368498G>A	uc001vll.1	-	2	2605	c.2146C>T	c.(2146-2148)CAT>TAT	p.H716Y	SLITRK6_uc010afe.1_Missense_Mutation_p.H169Y	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	716	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTTGGAGATGTTTTGCATCA	0.403													A	86368498	G	A	86368498	3	1	264	1	0	0	0	0	1	0	0	0	14747	1377	48	4	383	4	SLITRK6	13	86368498	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8731727	86368498	28801380	1185	130703											
SLITRK5	26050	broad.mit.edu	37	chr13	88328422	88328422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctattcagccctggtggGggatgtagtttgtgagaccc	13	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:88328422G>T	uc001vln.2	+	2	998	c.779G>T	c.(778-780)GGG>GTG	p.G260V	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	260	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCTGGTGGGGGATGTAGTT	0.502													T	88328422	G	T	88328422	3	4	264	1	0	0	0	0	1	0	0	0	14746	1232	43	5	781	5	SLITRK5	13	88328422	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1959924	88328422	26841456	1186	130704											
SLITRK5	26050	broad.mit.edu	37	chr13	88330043	88330043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagccgccgccGccaccgcagcagccacagca	11	20	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:88330043G>A	uc001vln.2	+	2	2619	c.2400G>A	c.(2398-2400)CCG>CCA	p.P800P	SLITRK5_uc010tic.1_Silent_p.P559P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	800	Cytoplasmic (Potential).					integral to membrane		p.P800L(1)		ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agccgccgccgccaccgcagc	0.393													A	88330043	G	A	88330043	2	1	264	1	0	0	0	0	0	0	0	1	14746	1074	38	1		1	SLITRK5	13	88330043	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1621	88330043	26839835	1187	130705											
DCT	1638	broad.mit.edu	37	chr13	95131311	95131311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accactccagggccttgtgtCggctcgcacctctgtgcact	10	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:95131311C>T	uc001vlv.3	-	1	626	c.199G>A	c.(199-201)GAC>AAC	p.D67N	DCT_uc010afh.2_Missense_Mutation_p.D67N	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	67	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	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)		GGCCTTGTGTCGGCTCGCACC	0.602													T	95131311	C	T	95131311	3	4	264	1	0	0	0	0	1	0	0	0	4304	884	31	1	1499	1	DCT	13	95131311	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6801268	95131311	20038567	1188	130706											
TGDS	23483	broad.mit.edu	37	chr13	95229643	95229643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctatcattaacataatcaAcccaattttccatttcagac	1	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:95229643A>G	uc001vlw.2	-	10	987	c.866T>C	c.(865-867)GTT>GCT	p.V289A	TGDS_uc001vlx.2_RNA	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	289					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AACATAATCAACCCAATTTTC	0.303													G	95229643	A	G	95229643	3	3	264	1	0	0	0	0	1	0	0	0	15811	43	2	3	198	3	TGDS	13	95229643	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	98332	95229643	19940235	1189	130707											
CLDN10	9071	broad.mit.edu	37	chr13	96229572	96229572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattttgcttttcaatatcTgacaacaacaaaacacccag	3	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:96229572T>C	uc001vmh.2	+	4	613	c.552T>C	c.(550-552)TCT>TCC	p.S184S	CLDN10_uc001vmg.2_Silent_p.S182S|CLDN10_uc010tii.1_Silent_p.S163S|DZIP1_uc010afn.2_RNA	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	184	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTTCAATATCTGACAACAACA	0.368													C	96229572	T	C	96229572	2	2	264	1	0	0	0	0	0	0	0	1	3472	1567	55	3		3	CLDN10	13	96229572	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	999929	96229572	18940306	1190	130708											
C13orf27	93081	broad.mit.edu	37	chr13	103419621	103419621	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacattgagttataattcAccttttcacacatttcatct	2	10	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:103419621A>G	uc001vpo.2	-	5	682	c.504_splice	c.e5+1	p.K168_splice	C13orf27_uc001vpn.2_Splice_Site_p.K127_splice|C13orf27_uc001vpp.2_Splice_Site_p.K127_splice	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081												0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTTATAATTCACCTTTTCACA	0.383													G	103419621	A	G	103419621	5	3	264	1	0	0	0	0	0	0	1	0	1723	173	6	3	185	3	C13orf27	13	103419621	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	7190049	103419621	11750257	1191	130709											
COL4A1	1282	broad.mit.edu	37	chr13	110814758	110814758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatcctggcaacccatcGgggcctggtggacctggaaa	14	11	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:110814758G>A	uc001vqw.3	-	48	4403	c.4281C>T	c.(4279-4281)CCC>CCT	p.P1427P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1427	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			GCAACCCATCGGGGCCTGGTG	0.507													A	110814758	G	A	110814758	2	1	264	1	0	0	0	0	0	0	0	1	3689	1103	39	1		1	COL4A1	13	110814758	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7395137	110814758	4355120	1192	130710											
COL4A2	1284	broad.mit.edu	37	chr13	111155630	111155630	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcccaggagaaaaagGtaacagtgcccatggccatg	12	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:111155630G>A	uc001vqx.2	+	42	4328	c.4039_splice	c.e42+1	p.G1347_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			GGAGAAAAAGGTAACAGTGCC	0.632													A	111155630	G	A	111155630	5	1	264	1	0	0	0	0	0	0	1	0	3690	1275	44	4	4202	4	COL4A2	13	111155630	Splice_Site	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	340872	111155630	4014248	1193	130711											
F10	2159	broad.mit.edu	37	chr13	113803660	113803660	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcttcaaggacacctacttCgtgacaggcatcgtcagctg	10	13	2	1	rs139031355		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:113803660C>T	uc001vsx.2	+	8	1353	c.1296C>T	c.(1294-1296)TTC>TTT	p.F432F	F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	432	Peptidase S1.				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			pancreas(1)	1	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)	ACACCTACTTCGTGACAGGCA	0.622													T	113803660	C	T	113803660	2	4	264	1	0	0	0	0	0	0	0	1	5336	883	31	1		1	F10	13	113803660	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2648030	113803660	1366218	1194	130712											
TMCO3	55002	broad.mit.edu	37	chr13	114150047	114150047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagccggcagtgggtcCgggacagctgcaggaagctc	17	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:114150047C>T	uc001vtu.3	+	2	512	c.151C>T	c.(151-153)CGG>TGG	p.R51W	TMCO3_uc001vtt.3_Missense_Mutation_p.R51W	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	51						integral to membrane	solute:hydrogen antiporter activity				0	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)			GCAGTGGGTCCGGGACAGCTG	0.617													T	114150047	C	T	114150047	3	4	264	1	0	0	0	0	1	0	0	0	15994	643	23	1	153	1	TMCO3	13	114150047	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	346387	114150047	1019831	1195	130713											
GAS6	2621	broad.mit.edu	37	chr13	114542743	114542745	+	In_Frame_Del	DEL	AGA	AGA	-													ccagccagctttacacaggcAgaagaagttgcccatgaggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:114542743_114542745delAGA	uc001vud.2	-	5	575_577	c.422_424delTCT	c.(421-426)TTCTGC>TGC	p.F141del	uc010tki.1_5'Flank	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	141	EGF-like 1; 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)	4	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)				TTACACAGGCAGAAGAAGTTGCC	0.616													-	114542745	AGA	-	114542743	7	5	264	1	0	1	0	1	0	0	0	0	6249	188	7	0	1656	0	GAS6	13	114542743	In_Frame_Del	DEL	AGA	TCGA-HU-A4G8-01A-11D-A25D-08	392696	114542743	627135	1196	130714											
OR4K1	79544	broad.mit.edu	37	chr14	20404206	20404206	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagatttatagccatatgTaagcctctgcactacagtac	7	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:20404206T>C	uc001vwj.1	+	1	381	c.381T>C	c.(379-381)TGT>TGC	p.C127C		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGCCATATGTAAGCCTCTGC	0.448													C	20404206	T	C	20404206	2	2	264	1	0	0	0	0	0	0	0	1	11067	1644	57	3		3	OR4K1	14	20404206	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08		20404206	86945334	1197	130715											
LRP10	26020	broad.mit.edu	37	chr14	23346575	23346575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcaggccctgcgaggcCgcctgttgcccagcctgggg	17	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:23346575C>T	uc001whd.2	+	7	2534	c.1981C>T	c.(1981-1983)CGC>TGC	p.R661C	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	661	Pro-rich.|Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCTGCGAGGCCGCCTGTTGCC	0.667													T	23346575	C	T	23346575	3	4	264	1	0	0	0	0	1	0	0	0	8952	652	23	1	2007	1	LRP10	14	23346575	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2942369	23346575	84002965	1198	130716											
HOMEZ	57594	broad.mit.edu	37	chr14	23745099	23745099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtctcagccctttcGttcaaggagcgggttgatgg	16	8	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:23745099G>A	uc001wja.2	-	2	1486	c.1338C>T	c.(1336-1338)AAC>AAT	p.N446N	HOMEZ_uc001wjb.2_Silent_p.N448N	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	446	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCCTTTCGTTCAAGGAGC	0.567													A	23745099	G	A	23745099	2	1	264	1	0	0	0	0	0	0	0	1	7281	1136	40	1		1	HOMEZ	14	23745099	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	398524	23745099	83604441	1199	130717											
MYH6	4624	broad.mit.edu	37	chr14	23876366	23876366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtctgggcctctagacGctccttctctgacttgcgga	12	14	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:23876366G>A	uc001wjv.2	-	3	134	c.67C>T	c.(67-69)CGT>TGT	p.R23C	MYH6_uc010akp.1_Missense_Mutation_p.R23C	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	23	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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTCTAGACGCTCCTTCTCT	0.592													A	23876366	G	A	23876366	3	1	264	1	0	0	0	0	1	0	0	0	10038	1087	38	1	5900	1	MYH6	14	23876366	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	131267	23876366	83473174	1200	130718											
IPO4	79711	broad.mit.edu	37	chr14	24657835	24657835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagaacgatctggagctGttccgtggcctggggggaag	17	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:24657835G>T	uc001wmv.1	-	2	210	c.79C>A	c.(79-81)CAG>AAG	p.Q27K	IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.Q27K	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	27	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		ATCTGGAGCTGTTCCGTGGCC	0.697													T	24657835	G	T	24657835	3	4	264	1	0	0	0	0	1	0	0	0	7795	1386	48	5	3282	5	IPO4	14	24657835	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	781469	24657835	82691705	1201	130719											
LTB4R2	56413	broad.mit.edu	37	chr14	24780905	24780905	+	Frame_Shift_Del	DEL	G	G	-													ggccgcggcaatggagacccGgggggtgggatggagaagga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:24780904_24780904CG>C	uc021rrp.1	+	0	1034	c.1034_1034CG>C	c.(1033-1035)ccgfs	p.P345fs	CIDEB_uc001woo.3_5'Flank|CIDEB_uc001wop.3_5'Flank|LTB4R2_uc010alo.3_Frame_Shift_Del_p.P345fs|LTB4R2_uc001wor.3_Frame_Shift_Del_p.P345fs|LTB4R_uc001wos.3_5'UTR|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	376					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AATGGAGACCCGGGGGGTGGG	0.672													-	24780905	G	-	24780905	7	5	264	1	0	1	0	1	0	0	0	0	9072	1103	39	0	1037	0	LTB4R2	14	24780905	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	123070	24780905	82568635	1202	130720											
CBLN3	643866	broad.mit.edu	37	chr14	24897543	24897543	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acatggaaccggaagctgtaGacaccccggacaggggctac	13	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:24897543G>C	uc001wpg.3	-	2	840	c.369C>G	c.(367-369)GTC>GTG	p.V123V	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	123	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		GGAAGCTGTAGACACCCCGGA	0.657													C	24897543	G	C	24897543	2	2	264	1	0	0	0	0	0	0	0	1	2706	929	33	5		5	CBLN3	14	24897543	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	116638	24897543	82451997	1203	130721											
HECTD1	25831	broad.mit.edu	37	chr14	31570424	31570424	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgggatgcaggttagccaGtccacctgggggtagagttg	16	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:31570424G>C	uc001wrc.1	-	42	8146	c.7657C>G	c.(7657-7659)CTG>GTG	p.L2553V	HECTD1_uc001wra.1_Missense_Mutation_p.L679V|HECTD1_uc001wrb.1_Missense_Mutation_p.L679V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2553	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		AGGTTAGCCAGTCCACCTGGG	0.443													C	31570424	G	C	31570424	3	2	264	1	0	0	0	0	1	0	0	0	7039	1020	36	5	183	5	HECTD1	14	31570424	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6672881	31570424	75779116	1204	130722											
ARHGAP5	394	broad.mit.edu	37	chr14	32561326	32561326	+	Frame_Shift_Del	DEL	A	A	-													gcatcagcgagaaatagttgAaaaagccaaagaagagtttc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:32561325_32561325GA>G	uc001wrl.3	+	1	1689	c.1450_1450GA>G	c.(1450-1452)gaafs	p.E484fs	ARHGAP5_uc001wrm.3_Frame_Shift_Del_p.E484fs|ARHGAP5_uc001wrn.3_Frame_Shift_Del_p.E484fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	484	FF 4.				Rho protein signal transduction|cell adhesion	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)		AGAAATAGTTGAAAAAGCCAA	0.358													-	32561326	A	-	32561326	7	5	264	1	0	1	0	1	0	0	0	0	886	246	9	0	1453	0	ARHGAP5	14	32561326	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	990902	32561326	74788214	1205	130723											
CLEC14A	161198	broad.mit.edu	37	chr14	38724676	38724676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagttagaggcggccccGgggcgcggcgcaggacacaa	16	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:38724676G>A	uc001wum.1	-	1	899	c.552C>T	c.(550-552)CCC>CCT	p.P184P		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	184	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		Aggcggccccggggcgcggcg	0.567													A	38724676	G	A	38724676	2	1	264	1	0	0	0	0	0	0	0	1	3499	1103	39	1		1	CLEC14A	14	38724676	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6163350	38724676	68624864	1206	130724											
PNN	5411	broad.mit.edu	37	chr14	39648395	39648395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaactgtttgaagagaggcGtgctaaacagacagaactgc	12	7	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:39648395G>A	uc001wuw.3	+	7	696	c.599G>A	c.(598-600)CGT>CAT	p.R200H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	200	Potential.|Necessary for interaction with RNPS1.|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			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAGAGAGGCGTGCTAAACAG	0.428													A	39648395	G	A	39648395	3	1	264	1	0	0	0	0	1	0	0	0	12160	1145	40	1	625	1	PNN	14	39648395	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	923719	39648395	67701145	1207	130725											
NIN	51199	broad.mit.edu	37	chr14	51224353	51224353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaccttctacttgcttcGttcggttttgctgtaaaaac	6	11	2	0	rs139379777		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:51224353G>A	uc001wym.2	-	18	3586	c.3395C>T	c.(3394-3396)ACG>ATG	p.T1132M	NIN_uc001wyi.2_Missense_Mutation_p.T1132M|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.T1138M|NIN_uc001wyo.2_Missense_Mutation_p.T1132M	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1132					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TACTTGCTTCGTTCGGTTTTG	0.488			T	PDGFRB	MPD								A	51224353	G	A	51224353	3	1	264	1	0	0	0	0	1	0	0	0	10417	1145	40	1	3210	1	NIN	14	51224353	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	11575958	51224353	56125187	1208	130726											
NIN	51199	broad.mit.edu	37	chr14	51243811	51243811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggggaggggaagatccActctgtgaagcattcaagtc	13	8	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:51243811A>G	uc001wym.2	-	7	713	c.522T>C	c.(520-522)AGT>AGC	p.S174S	NIN_uc001wyi.2_Silent_p.S174S|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.S174S|NIN_uc010tqp.1_Silent_p.S180S|NIN_uc001wyo.2_Silent_p.S174S|NIN_uc001wyp.1_Silent_p.S136S	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	174					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GGGAAGATCCACTCTGTGAAG	0.478			T	PDGFRB	MPD								G	51243811	A	G	51243811	2	3	264	1	0	0	0	0	0	0	0	1	10417	156	6	3		3	NIN	14	51243811	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	19458	51243811	56105729	1209	130727											
TRIM9	114088	broad.mit.edu	37	chr14	51446192	51446192	+	Frame_Shift_Del	DEL	A	A	-													ccttgttgttcatcgttgatAaaaaatgtcaagttttttct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:51446191_51446191TA>T	uc001wyx.4	-	8	2749	c.1984_1984TA>A	c.(1984-1986)atcfs	p.I662fs	TRIM9_uc001wyy.2_Frame_Shift_Del_p.I743fs	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	662	B30.2/SPRY.				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)					TCATCGTTGATAAAAAATGTC	0.473													-	51446192	A	-	51446192	7	5	264	1	0	1	0	1	0	0	0	0	16546	359	13	0	157	0	TRIM9	14	51446192	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	202381	51446192	55903348	1210	130728											
PELI2	57161	broad.mit.edu	37	chr14	56763566	56763566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatatctcagttgtggccaCgtgcacgggtaccacaactg	11	12	1	0	rs141588165	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:56763566C>T	uc001xch.2	+	6	1231	c.945C>T	c.(943-945)CAC>CAT	p.H315H		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	315					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			ovary(1)	1						GTTGTGGCCACGTGCACGGGT	0.617													T	56763566	C	T	56763566	2	4	264	1	0	0	0	0	0	0	0	1	11722	535	19	1		1	PELI2	14	56763566	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5317374	56763566	50585974	1211	130729											
C14orf101	54916	broad.mit.edu	37	chr14	57052612	57052612	+	Frame_Shift_Del	DEL	T	T	-													agcagtagctgcatcattacTttttttcaccgttttcaggt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:57052611_57052611CT>C	uc001xcm.3	+	2	447	c.325_325CT>C	c.(325-327)cttfs	p.L109fs	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Frame_Shift_Del_p.L109fs|C14orf101_uc010aot.1_Frame_Shift_Del_p.L109fs|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	109						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TGCATCATTACTTTTTTTCAC	0.368													-	57052612	T	-	57052612	7	5	264	1	0	1	0	1	0	0	0	0	1734	1609	56	0	336	0	C14orf101	14	57052612	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	289046	57052612	50296928	1212	130730											
C14orf105	55195	broad.mit.edu	37	chr14	57960259	57960259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaaaggtggcagctgccCttccaaggctttattctggt	11	9	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:57960259C>A	uc001xcy.2	-	1	318	c.175G>T	c.(175-177)GGG>TGG	p.G59W	C14orf105_uc010trl.1_Missense_Mutation_p.G59W|C14orf105_uc010trm.1_Translation_Start_Site|C14orf105_uc010trn.1_Translation_Start_Site|C14orf105_uc001xcz.2_Missense_Mutation_p.G59W|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Translation_Start_Site	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	59											0						GGCAGCTGCCCTTCCAAGGCT	0.443													A	57960259	C	A	57960259	3	1	264	1	0	0	0	0	1	0	0	0	1737	681	24	5	739	5	C14orf105	14	57960259	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	907647	57960259	49389281	1213	130731											
C14orf149	112849	broad.mit.edu	37	chr14	59946072	59946072	+	Splice_Site	DEL	A	A	-													gaacatccaccatgagatctAaaaaaaagatgtgtttggaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333													-	59946072	A	-	59946072	8	5	264	1	0	1	0	1	0	0	1	0	1752	377	13	0		0	C14orf149	14	59946072	Splice_Site	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1985813	59946072	47403468	1214	130732											
RTN1	6252	broad.mit.edu	37	chr14	60194028	60194028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtccagctcggcctcGcgctcctccctcaggatgct	10	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:60194028G>A	uc001xen.1	-	3	1583	c.1374C>T	c.(1372-1374)CGC>CGT	p.R458R	RTN1_uc001xem.1_Silent_p.R38R	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	458					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTCGGCCTCGCGCTCCTCCC	0.692													A	60194028	G	A	60194028	2	1	264	1	0	0	0	0	0	0	0	1	13725	1074	38	1		1	RTN1	14	60194028	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	247956	60194028	47155512	1215	130733											
RTN1	6252	broad.mit.edu	37	chr14	60194327	60194327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttgcttctttgatggCggtgatcagctcatcctcgg	10	12	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:60194327C>T	uc001xen.1	-	3	1284	c.1075G>A	c.(1075-1077)GCC>ACC	p.A359T	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	359					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTTGATGGCGGTGATCAGC	0.612													T	60194327	C	T	60194327	3	4	264	1	0	0	0	0	1	0	0	0	13725	768	27	1	1348	1	RTN1	14	60194327	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	299	60194327	47155213	1216	130734											
PPM1A	5494	broad.mit.edu	37	chr14	60749953	60749953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagaacgaattcagaatGcaggtggctctgtaatgatt	11	5	2	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:60749953G>A	uc010apn.2	+	3	934	c.532G>A	c.(532-534)GCA>ACA	p.A178T	PPM1A_uc001xew.3_Missense_Mutation_p.A251T|PPM1A_uc001xex.3_Missense_Mutation_p.A178T|PPM1A_uc001xey.3_Missense_Mutation_p.A178T	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	178					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			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AATTCAGAATGCAGGTGGCTC	0.443													A	60749953	G	A	60749953	3	1	264	1	0	0	0	0	1	0	0	0	12335	1319	46	2	757	2	PPM1A	14	60749953	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	555626	60749953	46599587	1217	130735											
PRKCH	5583	broad.mit.edu	37	chr14	61857990	61857990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggtaataacccttacCgggagtttcactgaaggtaa	10	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:61857990C>T	uc001xfn.2	+	2	716	c.411C>T	c.(409-411)ACC>ACT	p.T137T	PRKCH_uc010tsa.1_Intron	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	137					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TAACCCTTACCGGGAGTTTCA	0.328													T	61857990	C	T	61857990	2	4	264	1	0	0	0	0	0	0	0	1	12513	639	23	1		1	PRKCH	14	61857990	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1108037	61857990	45491550	1218	130736											
KCNH5	27133	broad.mit.edu	37	chr14	63174303	63174304	+	Frame_Shift_Ins	INS	-	-	G													atatcctgacatggtatctgINSggggggtacttggagtggca					rs35940222		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:63174302_63174303T>TG	uc001xfx.3	-	10	2941_2942	c.2890_2891A>CA	c.(2890-2892)cagfs	p.Q964fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	964					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)		ACATGGTATCTGGGGGGGTACT	0.391													G	63174304	-	G	63174303	7	5	264	1	0	1	1	0	0	0	0	0	8035	1357	47	0	80	0	KCNH5	14	63174303	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1316313	63174303	44175237	1219	130737											
KCNH5	27133	broad.mit.edu	37	chr14	63511835	63511835	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actacaactctccttaccacTggagcgcctgacgatgttct	7	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:63511835T>A	uc001xfx.2	-	1	121	c.70A>T	c.(70-72)AGT>TGT	p.S24C	KCNH5_uc001xfy.2_Missense_Mutation_p.S24C|KCNH5_uc001xfz.1_Intron|KCNH5_uc001xga.2_Intron	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	24	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTACCACTGGAGCGCCTG	0.642													A	63511835	T	A	63511835	3	1	264	1	0	0	0	0	1	0	0	0	8035	1580	55	5	2974	5	KCNH5	14	63511835	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	337532	63511835	43837705	1220	130738											
PLEKHH1	57475	broad.mit.edu	37	chr14	68028745	68028745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggatcccttcaagatgcGctagaaggtaggcaggccag	15	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:68028745G>A	uc001xjl.1	+	6	640	c.498G>A	c.(496-498)GCG>GCA	p.A166A		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	166	Potential.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTCAAGATGCGCTAGAAGGTA	0.507													A	68028745	G	A	68028745	2	1	264	1	0	0	0	0	0	0	0	1	12076	1074	38	1		1	PLEKHH1	14	68028745	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4516910	68028745	39320795	1221	130739											
ACTN1	87	broad.mit.edu	37	chr14	69347589	69347589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctggatgagctggtggtCgccctccagctgatcaatct	11	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:69347589C>T	uc001xkl.2	-	17	2381	c.2071G>A	c.(2071-2073)GAC>AAC	p.D691N	ACTN1_uc001xkk.2_Missense_Mutation_p.D287N|ACTN1_uc010ttb.1_Missense_Mutation_p.D626N|ACTN1_uc001xkm.2_Missense_Mutation_p.D691N|ACTN1_uc001xkn.2_Missense_Mutation_p.D691N|ACTN1_uc010ttc.1_Missense_Mutation_p.D276N	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	691	Spectrin 4.|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			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCTGGTGGTCGCCCTCCAGC	0.577													T	69347589	C	T	69347589	3	4	264	1	0	0	0	0	1	0	0	0	204	884	31	1	697	1	ACTN1	14	69347589	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1318844	69347589	38001951	1222	130740											
ACTN1	87	broad.mit.edu	37	chr14	69358908	69358908	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggcgccggtagtcccgGaagtcctccagcttctgttg	13	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:69358908G>A	uc001xkl.2	-	10	1258	c.948C>T	c.(946-948)TTC>TTT	p.F316F	ACTN1_uc010ttb.1_Silent_p.F251F|ACTN1_uc001xkm.2_Silent_p.F316F|ACTN1_uc001xkn.2_Silent_p.F316F|ACTN1_uc001xko.1_Silent_p.F251F|ACTN1_uc010ttd.1_Silent_p.F295F	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	316	Spectrin 1.|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			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTAGTCCCGGAAGTCCTCCA	0.617													A	69358908	G	A	69358908	2	1	264	1	0	0	0	0	0	0	0	1	204	1165	41	4		4	ACTN1	14	69358908	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	11319	69358908	37990632	1223	130741											
DCAF5	8816	broad.mit.edu	37	chr14	69521943	69521943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtttgtggtggtgaccCgcaggggccccaggtggaag	18	9	0	1	rs139500055		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:69521943C>A	uc001xkp.2	-	9	1679	c.1460G>T	c.(1459-1461)CGG>CTG	p.R487L	DCAF5_uc001xkq.2_Missense_Mutation_p.R486L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	487						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						GGTGGTGACCCGCAGGGGCCC	0.617													A	69521943	C	A	69521943	3	1	264	1	0	0	0	0	1	0	0	0	4273	652	23	5	1372	5	DCAF5	14	69521943	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	163035	69521943	37827597	1224	130742											
DPF3	8110	broad.mit.edu	37	chr14	73198564	73198564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcatccaccttcttctcaAccccctcgccacggagcaag	7	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:73198564A>G	uc001xnc.2	-	4	393	c.380T>C	c.(379-381)GTT>GCT	p.V127A	DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.V127A|DPF3_uc010ttq.1_Missense_Mutation_p.V137A	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	127					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCTTCTCAACCCCCTCGCC	0.547													G	73198564	A	G	73198564	3	3	264	1	0	0	0	0	1	0	0	0	4718	43	2	3	717	3	DPF3	14	73198564	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3676621	73198564	34150976	1225	130743											
NUMB	8650	broad.mit.edu	37	chr14	73743385	73743385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattttctaatgcagcccaCtgggcttcaaaaggatccac	7	11	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:73743385C>T	uc001xny.1	-	13	2177	c.1857G>A	c.(1855-1857)CAG>CAA	p.Q619Q	NUMB_uc010aro.1_Silent_p.Q424Q|NUMB_uc010arp.1_Silent_p.Q413Q|NUMB_uc010arq.1_Silent_p.Q473Q|NUMB_uc010arr.1_Silent_p.Q462Q|NUMB_uc001xoa.1_Silent_p.Q571Q|NUMB_uc001xnz.1_Silent_p.Q608Q|NUMB_uc001xob.1_Silent_p.Q560Q|NUMB_uc001xod.1_Silent_p.Q571Q|NUMB_uc001xoc.1_Silent_p.Q619Q|NUMB_uc010ars.1_Silent_p.Q608Q|NUMB_uc010ttz.1_Silent_p.Q317Q	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	619					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGCAGCCCACTGGGCTTCAA	0.488													T	73743385	C	T	73743385	2	4	264	1	0	0	0	0	0	0	0	1	10751	564	20	4		4	NUMB	14	73743385	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	544821	73743385	33606155	1226	130744											
NUMB	8650	broad.mit.edu	37	chr14	73743644	73743645	+	Frame_Shift_Del	DEL	TG	TG	-													caaatacgttggccaccatcTgggagggagtgatgcccacc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:73743643_73743644CTG>C	uc001xny.1	-	12	1918_1919	c.1598_1599CAG>G	c.(1597-1599)cagfs	p.Q533fs	NUMB_uc010aro.1_Frame_Shift_Del_p.Q338fs|NUMB_uc010arp.1_Frame_Shift_Del_p.Q327fs|NUMB_uc010arq.1_Frame_Shift_Del_p.Q387fs|NUMB_uc010arr.1_Frame_Shift_Del_p.Q376fs|NUMB_uc001xoa.1_Frame_Shift_Del_p.Q485fs|NUMB_uc001xnz.1_Frame_Shift_Del_p.Q522fs|NUMB_uc001xob.1_Frame_Shift_Del_p.Q474fs|NUMB_uc001xod.1_Frame_Shift_Del_p.Q485fs|NUMB_uc001xoc.1_Frame_Shift_Del_p.Q533fs|NUMB_uc010ars.1_Frame_Shift_Del_p.Q522fs|NUMB_uc010ttz.1_Frame_Shift_Del_p.Q231fs|NUMB_uc001xoe.3_Non-coding_Transcript	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	533				Q -> K (in Ref. 6; AAH68476).	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)		TGGCCACCATCTGGGAGGGAGT	0.609													-	73743645	TG	-	73743644	7	5	264	1	0	1	0	1	0	0	0	0	10751	1580	55	0	361	0	NUMB	14	73743644	Frame_Shift_Del	DEL	TG	TCGA-HU-A4G8-01A-11D-A25D-08	259	73743644	33605896	1227	130745											
C14orf43	91748	broad.mit.edu	37	chr14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-													tctgggttcatatctgggttGggggggaaggggtagggtgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:74205773delG	uc001xot.2	-	2	1722	c.939delC	c.(937-939)CCCfs	p.P313fs	C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TATCTGGGTTGGGGGGGAAGG	0.662													-	74205773	G	-	74205773	7	5	264	1	0	1	0	1	0	0	0	0	1774	1335	47	0	2242	0	C14orf43	14	74205773	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	462129	74205773	33143767	1228	130746											
C14orf115	55237	broad.mit.edu	37	chr14	74824357	74824357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgtgagcgctacagcGtcaccaaaagcaccttctac	7	15	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:74824357G>A	uc001xpw.3	+	2	1062	c.871G>A	c.(871-873)GTC>ATC	p.V291I		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	291					transposition, DNA-mediated		DNA binding|transposase activity	p.V291I(1)			0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCGCTACAGCGTCACCAAAAG	0.632													A	74824357	G	A	74824357	3	1	264	1	0	0	0	0	1	0	0	0	1740	1145	40	1	873	1	C14orf115	14	74824357	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	618584	74824357	32525183	1229	130747											
NPC2	10577	broad.mit.edu	37	chr14	74951266	74951266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggatgccatgcaccacgGccttgctgcttttagactga	10	12	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:74951266G>A	uc001xpy.2	-	3	322	c.215C>T	c.(214-216)GCC>GTC	p.A72V	NPC2_uc010tus.1_Missense_Mutation_p.A72V	NM_006432	NP_006423	P61916	NPC2_HUMAN	epididymal secretory protein E1 precursor	72					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				0				BRCA - Breast invasive adenocarcinoma(234;0.00149)		ATGCACCACGGCCTTGCTGCT	0.398													A	74951266	G	A	74951266	3	1	264	1	0	0	0	0	1	0	0	0	10572	1203	42	2	252	2	NPC2	14	74951266	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	126909	74951266	32398274	1230	130748											
PROX2	283571	broad.mit.edu	37	chr14	75330060	75330060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctcctggcccctgagCtgtgtccctgggcttggcag	13	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:75330060C>T	uc001xqr.1	-	1	478	c.478G>A	c.(478-480)GCT>ACT	p.A160T	PROX2_uc001xqq.1_Missense_Mutation_p.A86T	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	160					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGCCCCTGAGCTGTGTCCCTG	0.612													T	75330060	C	T	75330060	3	4	264	1	0	0	0	0	1	0	0	0	12561	797	28	2	1316	2	PROX2	14	75330060	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	378794	75330060	32019480	1231	130749											
C14orf145	145508	broad.mit.edu	37	chr14	81366294	81366294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcttttaccggctccttctgGaaagctccctgttgaaatca	8	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:81366294G>T	uc001xux.2	-	6	731	c.560C>A	c.(559-561)TCC>TAC	p.S187Y	C14orf145_uc001xuz.2_Missense_Mutation_p.S187Y|C14orf145_uc001xva.1_Missense_Mutation_p.S187Y|C14orf145_uc001xuy.1_Missense_Mutation_p.S45Y	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	187						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		GCTCCTTCTGGAAAGCTCCCT	0.393													T	81366294	G	T	81366294	3	4	264	1	0	0	0	0	1	0	0	0	1749	1174	41	5	2800	5	C14orf145	14	81366294	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6036234	81366294	25983246	1232	130750											
ZC3H14	79882	broad.mit.edu	37	chr14	89069403	89069403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatggtagcttttctaaCggtgtgttgagagctcagat	11	7	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:89069403C>T	uc001xww.2	+	12	1971	c.1746C>T	c.(1744-1746)AAC>AAT	p.N582N	ZC3H14_uc010twd.1_Silent_p.N582N|ZC3H14_uc010twe.1_Intron|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Silent_p.N127N|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	582						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						GCTTTTCTAACGGTGTGTTGA	0.468													T	89069403	C	T	89069403	2	4	264	1	0	0	0	0	0	0	0	1	17563	550	19	1		1	ZC3H14	14	89069403	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7703109	89069403	18280137	1233	130751											
RPS6KA5	9252	broad.mit.edu	37	chr14	91369281	91369281	+	Frame_Shift_Del	DEL	T	T	-													ggcttaaatggtgcaggcacTtttttggcggctaaatcatc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:91369280_91369280CT>C	uc001xys.2	-	8	1206	c.991_991AG>G	c.(991-993)gtgfs	p.V331fs	RPS6KA5_uc010twi.1_Frame_Shift_Del_p.V252fs|RPS6KA5_uc001xyt.3_Frame_Shift_Del_p.V331fs|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	331	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated 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-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)		GGTGCAGGCACTTTTTTGGCG	0.363													-	91369281	T	-	91369281	7	5	264	1	0	1	0	1	0	0	0	0	13654	1606	56	0	1460	0	RPS6KA5	14	91369281	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	2299878	91369281	15980259	1234	130752											
GPR68	8111	broad.mit.edu	37	chr14	91700911	91700913	+	In_Frame_Del	DEL	CCT	CCT	-													ctggttctcgtcctcgatgaCctcctcgtgcatcaggaagt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:91700910_91700912ACCT>A	uc021ryk.1	-	0	483_485	c.483_485AGGT>T	c.(481-486)gaggtc>gaTc	p.161_162EV>D	GPR68_uc001xzg.3_In_Frame_Del_p.161_162EV>D|GPR68_uc001xzh.3_In_Frame_Del_p.161_162EV>D	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	161					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)		GTCCTCGATGACCTCCTCGTGCA	0.621													-	91700913	CCT	-	91700911	7	5	264	1	0	1	0	1	0	0	0	0	6707	507	18	0	617	0	GPR68	14	91700911	In_Frame_Del	DEL	CCT	TCGA-HU-A4G8-01A-11D-A25D-08	331630	91700911	15648629	1235	130753											
TRIP11	9321	broad.mit.edu	37	chr14	92460225	92460225	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctataagctgtttttgcttTtcgagttcagcagaatacat	8	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:92460225T>C	uc001xzy.2	-	15	5876	c.5088A>G	c.(5086-5088)GAA>GAG	p.E1696E	TRIP11_uc010auf.1_Silent_p.E1432E	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1696	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GTTTTTGCTTTTCGAGTTCAG	0.328			T	PDGFRB	AML								C	92460225	T	C	92460225	2	2	264	1	0	0	0	0	0	0	0	1	16552	1838	64	3		3	TRIP11	14	92460225	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	759314	92460225	14889315	1236	130754											
COX8C	341947	broad.mit.edu	37	chr14	93813698	93813698	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagcccgctccccgcttCgcccactcggggcccccgcg	11	23	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:93813698C>T	uc001ybt.1	+	1	162	c.84C>T	c.(82-84)TTC>TTT	p.F28F	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	28						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CTCCCCGCTTCGCCCACTCGG	0.756													T	93813698	C	T	93813698	2	4	264	1	0	0	0	0	0	0	0	1	3786	883	31	1		1	COX8C	14	93813698	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1353473	93813698	13535842	1237	130755											
SERPINA10	51156	broad.mit.edu	37	chr14	94750338	94750338	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccaccctgcccagaaaCagaagcattccagaggtttc	7	14	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:94750338C>G	uc001yct.2	-	5	1765	c.1299G>C	c.(1297-1299)CTG>CTC	p.L433L	SERPINA10_uc001ycu.3_Silent_p.L433L	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	433					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGCCCAGAAACAGAAGCATTC	0.443													G	94750338	C	G	94750338	2	3	264	1	0	0	0	0	0	0	0	1	14087	465	17	5		5	SERPINA10	14	94750338	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	936640	94750338	12599202	1238	130756											
CLMN	79789	broad.mit.edu	37	chr14	95669173	95669173	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaatcccacggttgagtAcctgatggctgtccatgggg	12	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:95669173A>G	uc001yef.2	-	9	2627	c.2511_splice	c.e9+1	p.Q837_splice		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin							integral to membrane	actin binding				0				Epithelial(152;0.193)		ACGGTTGAGTACCTGATGGCT	0.552													G	95669173	A	G	95669173	5	3	264	1	0	0	0	0	0	0	1	0	3542	405	14	3	515	3	CLMN	14	95669173	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	918835	95669173	11680367	1239	130757											
TECPR2	9895	broad.mit.edu	37	chr14	102910040	102910040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggactgtccctacccgCtgtcccagatcacagcccgg	11	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:102910040C>T	uc001ylw.1	+	12	2957	c.2809C>T	c.(2809-2811)CTG>TTG	p.L937L	TECPR2_uc010awl.2_Silent_p.L937L|TECPR2_uc010txx.1_Silent_p.L100L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	937							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TCCCTACCCGCTGTCCCAGAT	0.612													T	102910040	C	T	102910040	2	4	264	1	0	0	0	0	0	0	0	1	15741	796	28	2		2	TECPR2	14	102910040	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7240867	102910040	4439500	1240	130758											
CDC42BPB	9578	broad.mit.edu	37	chr14	103413017	103413017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacctaagagagaggccGtcaccttcatgacaggaaac	11	11	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:103413017G>A	uc001ymi.1	-	28	3768	c.3536C>T	c.(3535-3537)ACG>ATG	p.T1179M	CDC42BPB_uc001ymj.1_Missense_Mutation_p.T281M	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1179	PH.				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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAGAGAGGCCGTCACCTTCAT	0.532													A	103413017	G	A	103413017	3	1	264	1	0	0	0	0	1	0	0	0	3073	1145	40	1	1639	1	CDC42BPB	14	103413017	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	502977	103413017	3936523	1241	130759											
ASPG	374569	broad.mit.edu	37	chr14	104552117	104552117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggtccggcatggcgcgcGcggtggggcccgagcggagg	21	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:104552117G>A	uc001yoq.1	+	1	70	c.10G>A	c.(10-12)GCG>ACG	p.A4T	ASPG_uc001yoo.1_5'UTR|ASPG_uc001yop.1_Missense_Mutation_p.A4T|ASPG_uc001yor.1_Missense_Mutation_p.A4T	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	4					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						CATGGCGCGCGCGGTGGGGCC	0.761													A	104552117	G	A	104552117	3	1	264	1	0	0	0	0	1	0	0	0	1052	1087	38	1	12	1	ASPG	14	104552117	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1139100	104552117	2797423	1242	130760											
INF2	64423	broad.mit.edu	37	chr14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-													ctactgccctgcacctgcagCccccccgtggcgggaggcat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:105174184_105174184GC>G	uc001ypb.2	+	7	1723	c.1580_1580GC>G	c.(1579-1581)agcfs	p.S527fs	INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	p.V530fs*50(1)		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)		TGCACCTGCAGCCCCCCCGTG	0.721													-	105174185	C	-	105174185	7	5	264	1	0	1	0	1	0	0	0	0	7734	738	26	0	1611	0	INF2	14	105174185	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	622068	105174185	2175355	1243	130761											
JAG2	3714	broad.mit.edu	37	chr14	105622325	105622325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgctcgatcagcagctcCtcttggggaggcggcagagt	14	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:105622325C>A	uc001yqg.2	-	4	881	c.477G>T	c.(475-477)GAG>GAT	p.E159D	JAG2_uc001yqh.2_Missense_Mutation_p.E159D	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	159	Extracellular (Potential).				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			lung(3)|breast(2)	5		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)		TCAGCAGCTCCTCTTGGGGAG	0.672													A	105622325	C	A	105622325	3	1	264	1	0	0	0	0	1	0	0	0	7935	695	24	5	3331	5	JAG2	14	105622325	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	448140	105622325	1727215	1244	130762											
TUBGCP5	114791	broad.mit.edu	37	chr15	22855087	22855087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacttacacgttatatagCgtatcagaaaagacagaaaa	7	7	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:22855087C>T	uc001yur.3	+	13	1678	c.1548C>T	c.(1546-1548)AGC>AGT	p.S516S	TUBGCP5_uc001yuq.2_Silent_p.S516S|TUBGCP5_uc010axz.1_Silent_p.S103S	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	516					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		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)		CGTTATATAGCGTATCAGAAA	0.398													T	22855087	C	T	22855087	2	4	264	1	0	0	0	0	0	0	0	1	16766	767	27	1		1	TUBGCP5	15	22855087	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08		22855087	79676305	1245	130763											
CYFIP1	23191	broad.mit.edu	37	chr15	22926026	22926026	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgcatttgttactggcatCgcaagatacattgaacaagc	8	8	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:22926026C>T	uc001yus.2	+	3	272	c.168C>T	c.(166-168)ATC>ATT	p.I56I	CYFIP1_uc001yut.2_Silent_p.I56I|CYFIP1_uc010aya.1_Intron	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	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			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		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													T	22926026	C	T	22926026	2	4	264	1	0	0	0	0	0	0	0	1	4137	874	31	1		1	CYFIP1	15	22926026	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	70939	22926026	79605366	1246	130764											
HERC2	8924	broad.mit.edu	37	chr15	28447515	28447515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagctggatgcattcccGgaagcaccagtgagagactt	13	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:28447515G>A	uc001zbj.2	-	46	7564	c.7458C>T	c.(7456-7458)TCC>TCT	p.S2486S	HERC2_uc001zbk.1_Silent_p.S21S	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2486					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		ATGCATTCCCGGAAGCACCAG	0.562													A	28447515	G	A	28447515	2	1	264	1	0	0	0	0	0	0	0	1	7058	1103	39	1		1	HERC2	15	28447515	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5521489	28447515	74083877	1247	130765											
OTUD7A	161725	broad.mit.edu	37	chr15	31819430	31819430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccacctccgcttcaggGcttccctctcagctcccgtc	6	21	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:31819430G>A	uc001zfq.2	-	5	827	c.734C>T	c.(733-735)GCC>GTC	p.A245V	OTUD7A_uc001zfr.2_Missense_Mutation_p.A245V	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	245	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		CCGCTTCAGGGCTTCCCTCTC	0.617													A	31819430	G	A	31819430	3	1	264	1	0	0	0	0	1	0	0	0	11318	1203	42	2	2074	2	OTUD7A	15	31819430	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3371915	31819430	70711962	1248	130766											
PGBD4	161779	broad.mit.edu	37	chr15	34395204	34395204	+	Frame_Shift_Del	DEL	T	T	-													acaatgacgagctcaaagtcTtttttgcagtaatgttactg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:34395203_34395203CT>C	uc001zho.3	+	0	930	c.471_471CT>C	c.(469-471)gtcfs	p.V157fs	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	157										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)		AGCTCAAAGTCTTTTTTGCAG	0.448													-	34395204	T	-	34395204	7	5	264	1	0	1	0	1	0	0	0	0	11783	1609	56	0	474	0	PGBD4	15	34395204	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	2575774	34395204	68136188	1249	130767											
AQR	9716	broad.mit.edu	37	chr15	35202392	35202392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttatggtaacatctgcaCgaactcgggttggccagttt	11	8	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:35202392C>T	uc001ziv.2	-	17	1788	c.1607G>A	c.(1606-1608)CGT>CAT	p.R536H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	536						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		AACATCTGCACGAACTCGGGT	0.448													T	35202392	C	T	35202392	3	4	264	1	0	0	0	0	1	0	0	0	835	536	19	1	2926	1	AQR	15	35202392	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	807188	35202392	67329000	1250	130768											
C15orf41	84529	broad.mit.edu	37	chr15	37100597	37100597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaaccgggaaaggggcatCctgctcaaagcctgtttccc	11	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:37100597C>T	uc001zje.3	+	11	1039	c.789C>T	c.(787-789)ATC>ATT	p.I263I	C15orf41_uc001zjd.2_Silent_p.I263I|C15orf41_uc010bbb.1_Silent_p.I165I|C15orf41_uc001zjf.2_Silent_p.I165I|C15orf41_uc010uci.1_Silent_p.I165I|CSNK1A1P_uc001zjg.3_Intron	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN	hypothetical protein LOC84529 isoform 1	263							protein binding			pancreas(1)	1		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		AAAGGGGCATCCTGCTCAAAG	0.478													T	37100597	C	T	37100597	2	4	264	1	0	0	0	0	0	0	0	1	1795	845	30	4		4	C15orf41	15	37100597	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1898205	37100597	65430795	1251	130769											
THBS1	7057	broad.mit.edu	37	chr15	39874929	39874929	+	Frame_Shift_Del	DEL	G	G	-													gccagactccgcatcgcaaaGgggggcgtcaatgacaattt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:39874928_39874928AG>A	uc001zkh.3	+	2	781	c.602_602AG>A	c.(601-603)aagfs	p.K201fs		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	201	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|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)	CGCATCGCAAAGGGGGGCGTC	0.557													-	39874929	G	-	39874929	7	5	264	1	0	1	0	1	0	0	0	0	15850	991	35	0	609	0	THBS1	15	39874929	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	2774332	39874929	62656463	1252	130770											
BAHD1	22893	broad.mit.edu	37	chr15	40751845	40751845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgtgggggctactcGccctgccccatgcttcctga	12	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:40751845G>A	uc001zlu.2	+	2	1253	c.1182G>A	c.(1180-1182)TCG>TCA	p.S394S	BAHD1_uc001zlt.2_Silent_p.S394S|BAHD1_uc010bbp.1_Silent_p.S394S|BAHD1_uc001zlv.2_Silent_p.S394S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	394					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGGGCTACTCGCCCTGCCCCA	0.637													A	40751845	G	A	40751845	2	1	264	1	0	0	0	0	0	0	0	1	1297	1074	38	1		1	BAHD1	15	40751845	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	876916	40751845	61779547	1253	130771											
BAHD1	22893	broad.mit.edu	37	chr15	40756081	40756081	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagccggagccagccatcCgaaagagctaccaggcggta	13	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:40756081C>T	uc001zlu.2	+	4	1908	c.1837C>T	c.(1837-1839)CGA>TGA	p.R613*	BAHD1_uc001zlt.2_Nonsense_Mutation_p.R612*|BAHD1_uc010bbp.1_Nonsense_Mutation_p.R612*|BAHD1_uc001zlv.2_Nonsense_Mutation_p.R613*	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	613					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCAGCCATCCGAAAGAGCTA	0.542													T	40756081	C	T	40756081	4	4	264	1	0	0	0	0	0	1	0	0	1297	644	23	1	1847	1	BAHD1	15	40756081	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4236	40756081	61775311	1254	130772											
VPS18	57617	broad.mit.edu	37	chr15	41192112	41192112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggagaaatttgggccgCtgaagcacatggtgaaggac	14	8	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:41192112C>T	uc001zne.2	+	4	1435	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	366					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		ATTTGGGCCGCTGAAGCACAT	0.622													T	41192112	C	T	41192112	2	4	264	1	0	0	0	0	0	0	0	1	17191	796	28	2		2	VPS18	15	41192112	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	436031	41192112	61339280	1255	130773											
CAPN3	825	broad.mit.edu	37	chr15	42680050	42680050	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtccaaccaccgcaatgagTtctggagtgctctgctggag	12	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:42680050T>A	uc001zpn.1	+	4	904	c.598T>A	c.(598-600)TTC>ATC	p.F200I	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.F113I|CAPN3_uc010udf.1_Missense_Mutation_p.F113I|CAPN3_uc010udg.1_Missense_Mutation_p.F113I|CAPN3_uc001zpo.1_Missense_Mutation_p.F200I|CAPN3_uc001zpp.1_Missense_Mutation_p.F200I	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	200	Calpain catalytic.		Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCGCAATGAGTTCTGGAGTGC	0.498													A	42680050	T	A	42680050	3	1	264	1	0	0	0	0	1	0	0	0	2628	1725	60	5	664	5	CAPN3	15	42680050	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1487938	42680050	59851342	1256	130774											
LRRC57	255252	broad.mit.edu	37	chr15	42839648	42839648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagttgcccaaaggtagaCggcagctctctaaggtgatt	13	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:42839648C>T	uc001zqd.1	-	3	671	c.303G>A	c.(301-303)CCG>CCA	p.P101P	HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Silent_p.P101P	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	101	LRR 3.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CAAAGGTAGACGGCAGCTCTC	0.478													T	42839648	C	T	42839648	2	4	264	1	0	0	0	0	0	0	0	1	9013	523	19	1		1	LRRC57	15	42839648	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	159598	42839648	59691744	1257	130775											
EPB42	2038	broad.mit.edu	37	chr15	43495432	43495432	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttctcgggtgggtttcGctcaaaattggagaagaaca	14	6	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:43495432G>A	uc001zra.3	-	11	1960	c.1660C>T	c.(1660-1662)CGA>TGA	p.R554*	EPB42_uc001zqz.3_Nonsense_Mutation_p.R221*|EPB42_uc010bde.2_Intron|EPB42_uc001zrb.3_Nonsense_Mutation_p.R584*|EPB42_uc010udm.1_Nonsense_Mutation_p.R476*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	554					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			ovary(2)	2		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)		GGTGGGTTTCGCTCAAAATTG	0.478													A	43495432	G	A	43495432	4	1	264	1	0	0	0	0	0	1	0	0	5158	1095	38	1	427	1	EPB42	15	43495432	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	655784	43495432	59035960	1258	130776											
TP53BP1	7158	broad.mit.edu	37	chr15	43712857	43712857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcactcggggcacgacacGgctgaaggatttatcatctg	13	10	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:43712857G>T	uc001zrs.2	-	21	4460	c.4312C>A	c.(4312-4314)CGT>AGT	p.R1438S	TP53BP1_uc010udp.1_Missense_Mutation_p.R1438S|TP53BP1_uc001zrq.3_Missense_Mutation_p.R1443S|TP53BP1_uc001zrr.3_Missense_Mutation_p.R1443S|TP53BP1_uc010udq.1_Missense_Mutation_p.R1443S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1438					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			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		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)		GGCACGACACGGCTGAAGGAT	0.532								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					T	43712857	G	T	43712857	3	4	264	1	0	0	0	0	1	0	0	0	16380	1116	39	5	1638	5	TP53BP1	15	43712857	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	217425	43712857	58818535	1259	130777											
TP53BP1	7158	broad.mit.edu	37	chr15	43748661	43748661	+	Frame_Shift_Del	DEL	T	T	-													tccatagcttctgagcattcTttttttggcatttccttttg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:43748660_43748660CT>C	uc001zrs.3	-	11	2279	c.2131_2131AG>G	c.(2131-2133)gaafs	p.E711fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.E711fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.E716fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	711					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		TCTGAGCATTCTTTTTTTGGC	0.403								Other conserved DNA damage response genes					-	43748661	T	-	43748661	7	5	264	1	0	1	0	1	0	0	0	0	16380	1606	56	0	3856	0	TP53BP1	15	43748661	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	35804	43748661	58782731	1260	130778											
DUOXA2	405753	broad.mit.edu	37	chr15	45408793	45408793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaagagaattacgccgcGgagtacgcgaacgcactgga	13	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:45408793G>A	uc001zuo.2	+	4	700	c.420G>A	c.(418-420)GCG>GCA	p.A140A	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	140	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		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)		ATTACGCCGCGGAGTACGCGA	0.607													A	45408793	G	A	45408793	2	1	264	1	0	0	0	0	0	0	0	1	4803	1103	39	1		1	DUOXA2	15	45408793	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1660132	45408793	57122599	1261	130779											
SLC12A1	6557	broad.mit.edu	37	chr15	48541850	48541850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaatttctcctgcttccAtgcctcttatgccaaatctc	3	13	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:48541850A>G	uc001zwn.3	+	14	1979	c.1763A>G	c.(1762-1764)CAT>CGT	p.H588R	SLC12A1_uc010uew.1_Missense_Mutation_p.H394R|SLC12A1_uc010bem.2_Missense_Mutation_p.H588R|SLC12A1_uc001zwq.3_Missense_Mutation_p.H359R|SLC12A1_uc001zwr.3_Missense_Mutation_p.H315R	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	588	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		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)	TCCTGCTTCCATGCCTCTTAT	0.378													G	48541850	A	G	48541850	3	3	264	1	0	0	0	0	1	0	0	0	14382	217	8	3	1913	3	SLC12A1	15	48541850	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3133057	48541850	53989542	1262	130780											
CYP19A1	1588	broad.mit.edu	37	chr15	51504687	51504687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacgacaggctggtaccGcatgctctcataaatgaagt	10	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:51504687G>A	uc001zyz.3	-	10	1344	c.1093C>T	c.(1093-1095)CGG>TGG	p.R365W	CYP19A1_uc001zza.3_Missense_Mutation_p.R365W|CYP19A1_uc001zzb.2_Missense_Mutation_p.R365W	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	365			R -> Q (in AROD; 0.4% of wild-type activity).		estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				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)	GGCTGGTACCGCATGCTCTCA	0.388													A	51504687	G	A	51504687	3	1	264	1	0	0	0	0	1	0	0	0	4148	1086	38	1	426	1	CYP19A1	15	51504687	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2962837	51504687	51026705	1263	130781											
GLDN	342035	broad.mit.edu	37	chr15	51696626	51696626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgcgtcaagtgtggacgGctcgagcattcttgtagcac	12	10	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:51696626G>A	uc002aba.2	+	10	1500	c.1331G>A	c.(1330-1332)GGC>GAC	p.G444D	GLDN_uc002abb.2_Missense_Mutation_p.G320D	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	444	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGTGTGGACGGCTCGAGCATT	0.428													A	51696626	G	A	51696626	3	1	264	1	0	0	0	0	1	0	0	0	6434	1203	42	2	1369	2	GLDN	15	51696626	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	191939	51696626	50834766	1264	130782											
ARPP19	10776	broad.mit.edu	37	chr15	52844160	52844160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgctagcaacaagggAcggcttccgttgaggaaggt	14	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:52844160A>G	uc002acd.1	-	3	434	c.310T>C	c.(310-312)TCC>CCC	p.S104P	ARPP19_uc002ace.1_Missense_Mutation_p.S104P	NM_006628	NP_006619	P56211	ARP19_HUMAN	cyclic AMP phosphoprotein, 19 kD	104					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding				0						GCAACAAGGGACGGCTTCCGT	0.448													G	52844160	A	G	52844160	3	3	264	1	0	0	0	0	1	0	0	0	977	275	10	3	32	3	ARPP19	15	52844160	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1147534	52844160	49687232	1265	130783											
WDR72	256764	broad.mit.edu	37	chr15	53957791	53957791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatgaagactccacctgcAgaccagggcaaggtaatggc	11	11	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:53957791A>G	uc002acj.2	-	14	1982	c.1940T>C	c.(1939-1941)CTG>CCG	p.L647P	WDR72_uc010bfi.1_Missense_Mutation_p.L647P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	647										lung(1)|skin(1)	2				all cancers(107;0.0511)		CTCCACCTGCAGACCAGGGCA	0.423													G	53957791	A	G	53957791	3	3	264	1	0	0	0	0	1	0	0	0	17319	188	7	3	1396	3	WDR72	15	53957791	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1113631	53957791	48573601	1266	130784											
ZNF280D	54816	broad.mit.edu	37	chr15	56968897	56968897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catataatgatgcatatatgGtgttgcaattttaataactt	6	4	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:56968897G>A	uc002adu.2	-	13	1598	c.1381C>T	c.(1381-1383)CCA>TCA	p.P461S	ZNF280D_uc002adv.2_Missense_Mutation_p.P448S|ZNF280D_uc010bfq.2_Missense_Mutation_p.P461S|ZNF280D_uc002adw.1_Missense_Mutation_p.P489S|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	461	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGCATATATGGTGTTGCAATT	0.318													A	56968897	G	A	56968897	3	1	264	1	0	0	0	0	1	0	0	0	17814	1261	44	4	1598	4	ZNF280D	15	56968897	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3011106	56968897	45562495	1267	130785											
LACTB	114294	broad.mit.edu	37	chr15	63414111	63414111	+	Frame_Shift_Del	DEL	C	C	-													agtgactgcccgggctgccgCccccgggggcttggcctcaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:63414111delC	uc002alw.2	+	1	80	c.41delC	c.(40-42)GCCfs	p.A14fs	LACTB_uc002alv.2_Frame_Shift_Del_p.A14fs	NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	14						mitochondrion	hydrolase activity				0						CGGGCTGCCGCCCCCGGGGGC	0.642													-	63414111	C	-	63414111	7	5	264	1	0	1	0	1	0	0	0	0	8597	739	26	0	43	0	LACTB	15	63414111	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	6445214	63414111	39117281	1268	130786											
SLC24A1	9187	broad.mit.edu	37	chr15	65946326	65946326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagaatgaacaagatccTgggcttcacaatgttcctcc	9	10	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:65946326T>C	uc010ujf.1	+	10	3496	c.3209T>C	c.(3208-3210)CTG>CCG	p.L1070P	SLC24A1_uc010uje.1_Intron|SLC24A1_uc010ujg.1_Missense_Mutation_p.L1040P|SLC24A1_uc010ujh.1_Missense_Mutation_p.L1052P|SLC24A1_uc010uji.1_Missense_Mutation_p.L397P	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	1070	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						AACAAGATCCTGGGCTTCACA	0.388													C	65946326	T	C	65946326	3	2	264	1	0	0	0	0	1	0	0	0	14465	1580	55	3	1349	3	SLC24A1	15	65946326	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2532215	65946326	36585066	1269	130787											
DIS3L	115752	broad.mit.edu	37	chr15	66612978	66612978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaaatggacattttgtgCgtgttttaggaagaatcgga	11	5	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:66612978C>T	uc010ujm.1	+	9	1249	c.1234C>T	c.(1234-1236)CGT>TGT	p.R412C	DIS3L_uc010ujl.1_Missense_Mutation_p.R42C|DIS3L_uc002app.2_Missense_Mutation_p.R329C|DIS3L_uc002apq.2_Missense_Mutation_p.R412C|DIS3L_uc010bho.2_Missense_Mutation_p.R278C	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	412					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						ACATTTTGTGCGTGTTTTAGG	0.438													T	66612978	C	T	66612978	3	4	264	1	0	0	0	0	1	0	0	0	4536	768	27	1	1268	1	DIS3L	15	66612978	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	666652	66612978	35918414	1270	130788											
KIF23	9493	broad.mit.edu	37	chr15	69728919	69728919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaaccattggttactgaCgtggttttgcagagttttcc	10	8	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:69728919C>T	uc002asb.2	+	14	1530	c.1413C>T	c.(1411-1413)GAC>GAT	p.D471D	KIF23_uc002asc.2_Silent_p.D471D|KIF23_uc010bii.2_Silent_p.D361D|KIF23_uc010ukc.1_Silent_p.D288D	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	471					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						TGGTTACTGACGTGGTTTTGC	0.383													T	69728919	C	T	69728919	2	4	264	1	0	0	0	0	0	0	0	1	8291	535	19	1		1	KIF23	15	69728919	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3115941	69728919	32802473	1271	130789											
LRRC49	54839	broad.mit.edu	37	chr15	71300948	71300948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaagattaagtttcctaAttctctggtaaatatttcct	5	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:71300948A>C	uc002asw.2	+	12	1647	c.1400A>C	c.(1399-1401)AAT>ACT	p.N467T	LRRC49_uc002asu.2_Missense_Mutation_p.N457T|LRRC49_uc002asx.2_Missense_Mutation_p.N423T|LRRC49_uc010ukf.1_Missense_Mutation_p.N472T|LRRC49_uc002asy.2_Missense_Mutation_p.N173T|LRRC49_uc002asz.2_Missense_Mutation_p.N439T	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	467						cytoplasm|microtubule				ovary(1)	1						AAGTTTCCTAATTCTCTGGTA	0.333													C	71300948	A	C	71300948	3	2	264	1	0	0	0	0	1	0	0	0	9006	101	4	5	1446	5	LRRC49	15	71300948	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1572029	71300948	31230444	1272	130790											
NR2E3	10002	broad.mit.edu	37	chr15	72109919	72109919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattgctcctgctcctccCgtctttgaggtttatcactg	8	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:72109919C>T	uc002ati.2	+	9	1317	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L		NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	photoreceptor-specific nuclear receptor isoform	376					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0						CTGCTCCTCCCGTCTTTGAGG	0.517													T	72109919	C	T	72109919	3	4	264	1	0	0	0	0	1	0	0	0	10626	652	23	1	1162	1	NR2E3	15	72109919	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	808971	72109919	30421473	1273	130791											
PML	5371	broad.mit.edu	37	chr15	74290466	74290466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaggatgcctggaggcgtCgggcatgcagtgccccatct	14	13	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74290466C>T	uc002awv.2	+	2	391	c.251C>T	c.(250-252)TCG>TTG	p.S84L	PML_uc002awm.2_Missense_Mutation_p.S84L|PML_uc002awl.2_Missense_Mutation_p.S84L|PML_uc002awj.1_Missense_Mutation_p.S84L|PML_uc002awk.2_Missense_Mutation_p.S84L|PML_uc002awn.2_Missense_Mutation_p.S84L|PML_uc002awo.2_Missense_Mutation_p.S84L|PML_uc002awp.2_Missense_Mutation_p.S84L|PML_uc002awq.2_Missense_Mutation_p.S84L|PML_uc002awr.2_Missense_Mutation_p.S84L|PML_uc002aws.2_Missense_Mutation_p.S84L|PML_uc002awt.2_Missense_Mutation_p.S84L|PML_uc002awu.2_Missense_Mutation_p.S84L|PML_uc010ule.1_Intron|PML_uc002aww.1_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	84	RING-type.				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|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 binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CTGGAGGCGTCGGGCATGCAG	0.642			T	RARA|PAX5	APL|ALL								T	74290466	C	T	74290466	3	4	264	1	0	0	0	0	1	0	0	0	12135	893	31	1	257	1	PML	15	74290466	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2180547	74290466	28240926	1274	130792											
ISLR2	57611	broad.mit.edu	37	chr15	74425630	74425631	+	Frame_Shift_Del	DEL	TA	TA	-													cgctgtcacacttgcaactcTatcacaatcccttccactgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74425629_74425630CTA>C	uc002axd.3	+	3	1303_1304	c.534_535CTA>C	c.(532-537)ctctatfs	p.L178fs	ISLR2_uc002axe.3_Frame_Shift_Del_p.L178fs|ISLR2_uc010bjg.3_Frame_Shift_Del_p.L178fs|ISLR2_uc010bjf.3_Frame_Shift_Del_p.L178fs|ISLR2_uc021sqe.1_Frame_Shift_Del_p.L178fs	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	178					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ACTTGCAACTCTATCACAATCC	0.649													-	74425631	TA	-	74425630	7	5	264	1	0	1	0	1	0	0	0	0	7859	1522	53	0	537	0	ISLR2	15	74425630	Frame_Shift_Del	DEL	TA	TCGA-HU-A4G8-01A-11D-A25D-08	135164	74425630	28105762	1275	130793											
ISLR2	57611	broad.mit.edu	37	chr15	74427108	74427108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcgaggagccagaggaCgtgcagggggagggccttga	22	8	0	2	rs143526022		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74427108C>T	uc002axd.2	+	4	2782	c.2013C>T	c.(2011-2013)GAC>GAT	p.D671D	ISLR2_uc002axe.2_Silent_p.D671D|ISLR2_uc010bjg.2_Silent_p.D671D|ISLR2_uc010bjf.2_Silent_p.D671D	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	671	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						AGCCAGAGGACGTGCAGGGGG	0.677											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74427108	C	T	74427108	2	4	264	1	0	0	0	0	0	0	0	1	7859	535	19	1		1	ISLR2	15	74427108	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1478	74427108	28104284	1276	130794											
CLK3	1198	broad.mit.edu	37	chr15	74912508	74912508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggggccataccggacccGcaagcatgcccaccactgcc	12	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74912508G>A	uc010uln.1	+	3	1216	c.755G>A	c.(754-756)CGC>CAC	p.R252H	CLK3_uc002ayg.3_Missense_Mutation_p.R104H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R252H|CLK3_uc002ayj.3_Missense_Mutation_p.R104H|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	252	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TACCGGACCCGCAAGCATGCC	0.622													A	74912508	G	A	74912508	3	1	264	1	0	0	0	0	1	0	0	0	3538	1087	38	1	765	1	CLK3	15	74912508	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	485400	74912508	27618884	1277	130795											
C15orf39	56905	broad.mit.edu	37	chr15	75498393	75498393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagccttcacagcgatgGcagagaagcgacccctgaga	12	12	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75498393G>A	uc002azp.3	+	2	324	c.4G>A	c.(4-6)GCA>ACA	p.A2T	C15orf39_uc002azq.3_Missense_Mutation_p.A2T|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	2											0						CACAGCGATGGCAGAGAAGCG	0.597													A	75498393	G	A	75498393	3	1	264	1	0	0	0	0	1	0	0	0	1793	1203	42	2	6	2	C15orf39	15	75498393	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	585885	75498393	27032999	1278	130796											
C15orf39	56905	broad.mit.edu	37	chr15	75501053	75501053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcactgcgggagctcgcCctgccaggctgcacctcacg	14	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75501053C>T	uc002azp.3	+	2	2984	c.2664C>T	c.(2662-2664)GCC>GCT	p.A888A	C15orf39_uc002azq.3_Silent_p.A888A|C15orf39_uc002azr.3_Silent_p.A286A	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	888											0						GGGAGCTCGCCCTGCCAGGCT	0.672													T	75501053	C	T	75501053	2	4	264	1	0	0	0	0	0	0	0	1	1793	610	22	4		4	C15orf39	15	75501053	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2660	75501053	27030339	1279	130797											
SIN3A	25942	broad.mit.edu	37	chr15	75704021	75704021	+	Frame_Shift_Del	DEL	A	A	-													gaccggcggagaacgtggggAtgcatacggtggaagtgggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75704020_75704020GA>G	uc002bai.3	-	5	1080	c.821_821TC>C	c.(820-822)tccfs	p.S274fs	SIN3A_uc002baj.3_Frame_Shift_Del_p.S274fs|SIN3A_uc010uml.2_Frame_Shift_Del_p.S274fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	274	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	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						AGAACGTGGGGATGCATACGG	0.527													-	75704021	A	-	75704021	7	5	264	1	0	1	0	1	0	0	0	0	14325	333	12	0	3065	0	SIN3A	15	75704021	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	202968	75704021	26827371	1280	130798											
CSPG4	1464	broad.mit.edu	37	chr15	75974714	75974714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctagctgggggccccGcaccacacggtagagcagga	15	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75974714G>A	uc002baw.2	-	8	4963	c.4870C>T	c.(4870-4872)CGG>TGG	p.R1624W		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1624	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.				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			ovary(2)|pancreas(1)	3						TGGGGGCCCCGCACCACACGG	0.662													A	75974714	G	A	75974714	3	1	264	1	0	0	0	0	1	0	0	0	3960	1086	38	1	2110	1	CSPG4	15	75974714	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	270693	75974714	26556678	1281	130799											
CHRNA3	1136	broad.mit.edu	37	chr15	78894268	78894268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtagaacaagggcaggCgccggatgtacagcgagtat	16	7	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:78894268C>T	uc002bec.2	-	5	902	c.716G>A	c.(715-717)CGC>CAC	p.R239H	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.R239H	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	239	Extracellular (Potential).				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)|ovary(1)	4						CAAGGGCAGGCGCCGGATGTA	0.557													T	78894268	C	T	78894268	3	4	264	1	0	0	0	0	1	0	0	0	3384	768	27	1	894	1	CHRNA3	15	78894268	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2919554	78894268	23637124	1282	130800											
RASGRF1	5923	broad.mit.edu	37	chr15	79290463	79290463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttggctgcagccttccGctcctgggtcaggagctccg	14	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:79290463G>A	uc002beq.2	-	20	3364	c.2989C>T	c.(2989-2991)CGG>TGG	p.R997W	RASGRF1_uc002bep.2_Missense_Mutation_p.R981W|RASGRF1_uc010blm.1_Missense_Mutation_p.R906W|RASGRF1_uc002ber.3_Missense_Mutation_p.R981W|RASGRF1_uc010unh.1_Missense_Mutation_p.R392W|RASGRF1_uc002beo.2_Missense_Mutation_p.R213W	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	999					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			skin(4)|ovary(1)|central_nervous_system(1)	6						GCAGCCTTCCGCTCCTGGGTC	0.587													A	79290463	G	A	79290463	3	1	264	1	0	0	0	0	1	0	0	0	13072	1086	38	1	868	1	RASGRF1	15	79290463	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	396195	79290463	23240929	1283	130801											
RASGRF1	5923	broad.mit.edu	37	chr15	79296457	79296457	+	Frame_Shift_Del	DEL	G	G	-													cgggtggcgcgcggggacttGgggggttcaccgtacaggag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:79296456_79296456TG>T	uc002beq.3	-	15	2560	c.2185_2185CA>A	c.(2185-2187)aagfs	p.K729fs	RASGRF1_uc002bep.3_Frame_Shift_Del_p.K713fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.K638fs|RASGRF1_uc002ber.4_Frame_Shift_Del_p.K713fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.K124fs|RASGRF1_uc002beo.3_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	729	N-terminal 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						CGCGGGGACTTGGGGGGTTCA	0.627													-	79296457	G	-	79296457	7	5	264	1	0	1	0	1	0	0	0	0	13072	1335	47	0	1689	0	RASGRF1	15	79296457	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	5994	79296457	23234935	1284	130802											
RASGRF1	5923	broad.mit.edu	37	chr15	79339295	79339295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtagtcctggatgatgGtcttccacttccgccggcac	12	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:79339295G>A	uc002beq.2	-	5	1046	c.671C>T	c.(670-672)ACC>ATC	p.T224I	RASGRF1_uc002bep.2_Missense_Mutation_p.T224I|RASGRF1_uc010blm.1_Missense_Mutation_p.T146I|RASGRF1_uc002ber.3_Missense_Mutation_p.T224I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	224	IQ.				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			skin(4)|ovary(1)|central_nervous_system(1)	6						CTGGATGATGGTCTTCCACTT	0.617													A	79339295	G	A	79339295	3	1	264	1	0	0	0	0	1	0	0	0	13072	1261	44	4	3246	4	RASGRF1	15	79339295	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	42838	79339295	23192097	1285	130803											
MTHFS	10588	broad.mit.edu	37	chr15	80181594	80181594	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagcagattttgcctcGttggaaaatgtccttgatga	11	6	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:80181594G>A	uc002bex.3	-	2	260	c.220C>T	c.(220-222)CGA>TGA	p.R74*		NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	74					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		ATTTTGCCTCGTTGGAAAATG	0.413													A	80181594	G	A	80181594	4	1	264	1	0	0	0	0	0	1	0	0	9932	1153	40	1	399	1	MTHFS	15	80181594	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	842299	80181594	22349798	1286	130804											
KIAA1199	57214	broad.mit.edu	37	chr15	81173394	81173394	+	Frame_Shift_Del	DEL	T	T	-													ggcatggcagaaggaggctaTttttttgaaaggagctgggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:81173393_81173393AT>A	uc002bfw.1	+	4	793	c.533_533AT>A	c.(532-534)tatfs	p.Y178fs	KIAA1199_uc010unn.1_Frame_Shift_Del_p.Y178fs	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	178										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						GAAGGAGGCTATTTTTTTGAA	0.498													-	81173394	T	-	81173394	7	5	264	1	0	1	0	1	0	0	0	0	8213	1500	52	0	548	0	KIAA1199	15	81173394	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	991800	81173394	21357998	1287	130805											
TMC3	342125	broad.mit.edu	37	chr15	81625552	81625552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatgtcataggtgtgcgCgatctgttcctgtgaaggtc	13	7	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:81625552C>T	uc002bgo.1	-	22	2511	c.2511G>A	c.(2509-2511)TCG>TCA	p.S837S	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	837	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						TAGGTGTGCGCGATCTGTTCC	0.512													T	81625552	C	T	81625552	2	4	264	1	0	0	0	0	0	0	0	1	15983	755	27	1		1	TMC3	15	81625552	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	452158	81625552	20905840	1288	130806											
ZSCAN2	54993	broad.mit.edu	37	chr15	85147393	85147393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacagggtgcactcggcCgcctccgagagctctgccgg	14	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:85147393C>T	uc002bkr.2	+	2	461	c.235C>T	c.(235-237)CGC>TGC	p.R79C	ZSCAN2_uc002bkp.2_Missense_Mutation_p.R79C|ZSCAN2_uc002bkq.2_Missense_Mutation_p.R79C|ZSCAN2_uc010bmz.1_Missense_Mutation_p.R78C|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.R78C|ZSCAN2_uc010uoy.1_Missense_Mutation_p.R78C|ZSCAN2_uc010uoz.1_Missense_Mutation_p.R78C	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	79	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TGCACTCGGCCGCCTCCGAGA	0.632													T	85147393	C	T	85147393	3	4	264	1	0	0	0	0	1	0	0	0	18228	652	23	1	237	1	ZSCAN2	15	85147393	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3521841	85147393	17383999	1289	130807											
DET1	55070	broad.mit.edu	37	chr15	89074383	89074383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagtcttctagaggggacCgtgggttgggggtcactgat	16	6	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:89074383C>T	uc002bmr.2	-	2	706	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R196Q	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	185						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TAGAGGGGACCGTGGGTTGGG	0.527													T	89074383	C	T	89074383	3	4	264	1	0	0	0	0	1	0	0	0	4450	652	23	1	1114	1	DET1	15	89074383	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3926990	89074383	13457009	1290	130808											
FURIN	5045	broad.mit.edu	37	chr15	91422181	91422181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggccacgacctacagcaGtggcaaccagaatgagaagc	11	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:91422181G>A	uc002bpu.1	+	9	1244	c.1028G>A	c.(1027-1029)AGT>AAT	p.S343N		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	343					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			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACCTACAGCAGTGGCAACCAG	0.607													A	91422181	G	A	91422181	3	1	264	1	0	0	0	0	1	0	0	0	6099	1029	36	4	1058	4	FURIN	15	91422181	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2347798	91422181	11109211	1291	130809											
MAN2A2	4122	broad.mit.edu	37	chr15	91453427	91453429	+	In_Frame_Del	DEL	CTC	CTC	-													gtgctgagcggggatttcttCtcctatgcggaccgggagga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:91453426_91453428TCTC>T	uc010bnz.2	+	9	1596_1598	c.1481_1483TCTC>T	c.(1480-1485)ttctcc>tTcc	p.S495del	MAN2A2_uc010boa.3_In_Frame_Del_p.S537del|MAN2A2_uc002bqc.3_In_Frame_Del_p.S495del|MAN2A2_uc010uql.2_Intron|MAN2A2_uc010uqm.2_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	495					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)			GGGGATTTCTTCTCCTATGCGGA	0.567													-	91453429	CTC	-	91453427	7	5	264	1	0	1	0	1	0	0	0	0	9215	912	32	0	1516	0	MAN2A2	15	91453427	In_Frame_Del	DEL	CTC	TCGA-HU-A4G8-01A-11D-A25D-08	31246	91453427	11077965	1292	130810											
SV2B	9899	broad.mit.edu	37	chr15	91801724	91801724	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcgtctgtgctctgccCtgcaccgtgtccatggtggc	12	14	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:91801724C>A	uc002bqv.2	+	4	1249	c.858C>A	c.(856-858)CCC>CCA	p.P286P	SV2B_uc002bqt.2_Silent_p.P286P|SV2B_uc010uqv.1_Silent_p.P135P|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	286	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGCTCTGCCCTGCACCGTGT	0.542													A	91801724	C	A	91801724	2	1	264	1	0	0	0	0	0	0	0	1	15415	668	24	5		5	SV2B	15	91801724	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	348297	91801724	10729668	1293	130811											
CHD2	1106	broad.mit.edu	37	chr15	93567925	93567925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattataactggaatgttcGgaaaacataaaggacagctc	9	6	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:93567925G>A	uc002bsp.2	+	39	6052	c.5477G>A	c.(5476-5478)CGG>CAG	p.R1826Q		NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1826					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGAATGTTCGGAAAACATAA	0.428													A	93567925	G	A	93567925	3	1	264	1	0	0	0	0	1	0	0	0	3325	1116	39	1	5631	1	CHD2	15	93567925	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1766201	93567925	8963467	1294	130812											
TTC23	64927	broad.mit.edu	37	chr15	99740199	99740199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaattctctcaatatgggTacacactcacgacttgtttc	6	11	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:99740199T>C	uc002bur.2	-	8	1215	c.684A>G	c.(682-684)GTA>GTG	p.V228V	TTC23_uc002bus.2_Silent_p.V228V|TTC23_uc002but.2_Silent_p.V228V|TTC23_uc002buu.2_Silent_p.V228V|TTC23_uc002buv.2_Silent_p.V228V|TTC23_uc002bux.2_Silent_p.V228V|TTC23_uc002buw.2_Silent_p.V228V|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.V228V|TTC23_uc010bor.2_Silent_p.V228V|TTC23_uc002buz.2_Silent_p.V228V	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	228							binding				0	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)			TCAATATGGGTACACACTCAC	0.453													C	99740199	T	C	99740199	2	2	264	1	0	0	0	0	0	0	0	1	16687	1625	57	3		3	TTC23	15	99740199	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	6172274	99740199	2791193	1295	130813											
WDR90	197335	broad.mit.edu	37	chr16	709106	709107	+	Frame_Shift_Ins	INS	-	-	C													gaccaaagcttccccggggcINSccccccagcctgcaagacag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:709105_709106G>GC	uc002cii.1	+	24	3085_3086	c.3031_3032G>GC	c.(3031-3033)gccfs	p.A1011fs	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Frame_Shift_Ins_p.A538fs|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Frame_Shift_Ins_p.A185fs|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTTCCCCGGGGCCCCCCCAGCC	0.658													C	709107	-	C	709106	7	5	264	1	0	1	1	0	0	0	0	0	17334	739	26	0	3130	0	WDR90	16	709106	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08		709106	89645647	1296	130814											
RHBDL1	9028	broad.mit.edu	37	chr16	727934	727934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctacgaggagcgcctgcGggaccagtgcggctggtggg	20	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:727934G>A	uc002cis.1	+	7	1226	c.1199G>A	c.(1198-1200)CGG>CAG	p.R400Q	RHBDL1_uc002cir.1_Missense_Mutation_p.R335Q|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.2_5'Flank|STUB1_uc002ciu.2_5'Flank|STUB1_uc010bqz.2_5'Flank|STUB1_uc002civ.2_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	400					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				GAGCGCCTGCGGGACCAGTGC	0.697													A	727934	G	A	727934	3	1	264	1	0	0	0	0	1	0	0	0	13321	1116	39	1	1225	1	RHBDL1	16	727934	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	18828	727934	89626819	1297	130815											
WDR24	84219	broad.mit.edu	37	chr16	736817	736817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggccggccagccagcGcataacgctcagctgtgtcc	12	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:736817G>A	uc002ciz.1	-	3	2019	c.1259C>T	c.(1258-1260)GCG>GTG	p.A420V	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	550										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCCAGCCAGCGCATAACGCTC	0.657													A	736817	G	A	736817	3	1	264	1	0	0	0	0	1	0	0	0	17278	1087	38	1	1141	1	WDR24	16	736817	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8883	736817	89617936	1298	130816											
C16orf91	283951	broad.mit.edu	37	chr16	1478472	1478472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaggtccacctgcgccCgaagcctgggctggccattt	13	14	0	1	rs137919651		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:1478472C>T	uc010uvd.1	-	2	179	c.179G>A	c.(178-180)CGG>CAG	p.R60Q		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	hypothetical protein LOC283951	Error:Variant_position_missing_in_Q4G0I0_after_alignment						integral to membrane					0						CACCTGCGCCCGAAGCCTGGG	0.672													T	1478472	C	T	1478472	3	4	264	1	0	0	0	0	1	0	0	0	1844	652	23	1	905	1	C16orf91	16	1478472	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	741655	1478472	88876281	1299	130817											
TMEM204	79652	broad.mit.edu	37	chr16	1604942	1604942	+	Frame_Shift_Del	DEL	C	C	-													caagagggaggactgcatggCcccccgggtgattgtcatca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:1604941_1604941GC>G	uc002cmc.2	+	3	993	c.595_595GC>G	c.(595-597)gccfs	p.A199fs	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Frame_Shift_Del_p.A199fs|TMEM204_uc010brr.1_Frame_Shift_Del_p.A199fs|BC114455_uc010brs.1_5'Flank	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	199					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				GGACTGCATGGCCCCCCGGGT	0.617													-	1604942	C	-	1604942	7	5	264	1	0	1	0	1	0	0	0	0	16126	739	26	0	606	0	TMEM204	16	1604942	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	126470	1604942	88749811	1300	130818											
SPSB3	90864	broad.mit.edu	37	chr16	1828472	1828472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcagtccctgccccGgtgggccgagtgcaggctgc	17	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:1828472G>A	uc002cmr.2	-	2	301	c.268C>T	c.(268-270)CGG>TGG	p.R90W	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.R90W|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.R145W	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	90	B30.2/SPRY.				intracellular signal transduction						0						TCCCTGCCCCGGTGGGCCGAG	0.711													A	1828472	G	A	1828472	3	1	264	1	0	0	0	0	1	0	0	0	15113	1115	39	1	819	1	SPSB3	16	1828472	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	223530	1828472	88526281	1301	130819											
IGFALS	3483	broad.mit.edu	37	chr16	1842221	1842221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactccatcaggcaggcgCgtgaggttcctggagctgca	16	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:1842221C>T	uc002cmy.2	-	2	279	c.198G>A	c.(196-198)ACG>ACA	p.T66T	IGFALS_uc010uvn.1_Silent_p.T104T|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	66	LRRNT.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						CAGGCAGGCGCGTGAGGTTCC	0.692													T	1842221	C	T	1842221	2	4	264	1	0	0	0	0	0	0	0	1	7577	755	27	1		1	IGFALS	16	1842221	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	13749	1842221	88512532	1302	130820											
TSC2	7249	broad.mit.edu	37	chr16	2110801	2110801	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatcatcgaacggctccTtcagcagctccaggtggggt	12	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:2110801T>G	uc002con.2	+	11	1212	c.1106T>G	c.(1105-1107)CTT>CGT	p.L369R	TSC2_uc010bsd.2_Missense_Mutation_p.L369R|TSC2_uc002coo.2_Missense_Mutation_p.L369R|TSC2_uc010uvv.1_Missense_Mutation_p.L332R|TSC2_uc010uvw.1_Missense_Mutation_p.L320R|TSC2_uc002cop.2_Missense_Mutation_p.L169R	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	369	Required for interaction with TSC1.				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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GAACGGCTCCTTCAGCAGCTC	0.602			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				G	2110801	T	G	2110801	3	3	264	1	0	0	0	0	1	0	0	0	16603	1609	56	5	1144	5	TSC2	16	2110801	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	268580	2110801	88243952	1303	130821											
TBC1D24	57465	broad.mit.edu	37	chr16	2546177	2546177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggatacaactgcttcGtggacaaagacaagatggac	10	10	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:2546177G>A	uc002cql.2	+	2	168	c.28G>A	c.(28-30)GTG>ATG	p.V10M	TBC1D24_uc002cqk.2_Missense_Mutation_p.V10M|TBC1D24_uc002cqm.2_Missense_Mutation_p.V10M|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	10					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						CAACTGCTTCGTGGACAAAGA	0.622													A	2546177	G	A	2546177	3	1	264	1	0	0	0	0	1	0	0	0	15611	1145	40	1	30	1	TBC1D24	16	2546177	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	435376	2546177	87808576	1304	130822											
OR2C1	4993	broad.mit.edu	37	chr16	3406271	3406271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctttggctgggggccaccGagtgcatcctgctggtggtg	16	11	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:3406271G>A	uc002cuw.1	+	1	383	c.331G>A	c.(331-333)GAG>AAG	p.E111K		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGGGGCCACCGAGTGCATCCT	0.587													A	3406271	G	A	3406271	3	1	264	1	0	0	0	0	1	0	0	0	10992	1059	37	1	333	1	OR2C1	16	3406271	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	860094	3406271	86948482	1305	130823											
ZNF174	7727	broad.mit.edu	37	chr16	3452239	3452239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtggttgcaacccgagCtgcacaccaaggagcagatt	12	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:3452239C>T	uc002cvc.2	+	1	1050	c.235C>T	c.(235-237)CTG>TTG	p.L79L	ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Silent_p.L79L|ZNF174_uc002cvb.2_Silent_p.L79L	NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	79	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				0						GCAACCCGAGCTGCACACCAA	0.582													T	3452239	C	T	3452239	2	4	264	1	0	0	0	0	0	0	0	1	17741	796	28	2		2	ZNF174	16	3452239	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	45968	3452239	86902514	1306	130824											
CREBBP	1387	broad.mit.edu	37	chr16	3817721	3817722	+	Splice_Site	INS	-	-	T													taatgaataaatggcctactINSttttttgcgcggctgcgaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:3817720_3817721C>CT	uc002cvv.3	-	16	3454	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_uc002cvw.3_Splice_Site_p.I1046_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1084					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|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)		AAATGGCCTACTTTTTTTGCGC	0.401			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3817722	-	T	3817721	8	5	264	1	0	1	1	0	0	0	1	0	3861	1623	56	0	4142	0	CREBBP	16	3817721	Splice_Site	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	365482	3817721	86537032	1307	130825											
TFAP4	7023	broad.mit.edu	37	chr16	4310529	4310529	+	Missense_Mutation	SNP	T	T	A													tcacctgttcctgctgctgcTgcagctgcacctgctgcgca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4310529T>A	uc010uxg.1	-	5	847	c.593A>T	c.(592-594)CAG>CTG	p.Q198L		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	198	Gln-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ctgctgctgctgcagctgcac	0.383													A	4310529	T	A	4310529	3	1	264	1	0	0	0	0	1	0	0	0	15789	1580	55	5	435	5	TFAP4	16	4310529	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	492808	4310529	86044224	1308	130826	669	2									
TFAP4	7023	broad.mit.edu	37	chr16	4310532	4310532	+	Missense_Mutation	SNP	A	A	T													cctgttcctgctgctgctgcAgctgcacctgctgcgcaatc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4310532A>T	uc010uxg.1	-	5	844	c.590T>A	c.(589-591)CTG>CAG	p.L197Q		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	197	Gln-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ctgctgctgcagctgcacctg	0.383													T	4310532	A	T	4310532	3	4	264	1	0	0	0	0	1	0	0	0	15789	188	7	5	438	5	TFAP4	16	4310532	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3	4310532	86044221	1309	130827	669	2									
SEPT12	124404	broad.mit.edu	37	chr16	4829702	4829702	+	Frame_Shift_Del	DEL	C	C	-													cgcactgaccttcaatgatgCcccacttggtcttccggccc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4829701_4829701GC>G	uc002cxq.3	-	7	1077	c.813_813GC>C	c.(811-813)ggcfs	p.G271fs	SEPT12_uc002cxr.3_Frame_Shift_Del_p.G225fs|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	271					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						CTTCAATGATGCCCCACTTGG	0.607													-	4829702	C	-	4829702	7	5	264	1	0	1	0	1	0	0	0	0	14062	739	26	0	276	0	SEPT12	16	4829702	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	519170	4829702	85525051	1310	130828											
UBN1	29855	broad.mit.edu	37	chr16	4920883	4920883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaaggagcagagggaccGgatttgttcggatgaggaag	17	5	0	3	rs143382224		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4920883G>A	uc002cyb.2	+	11	1808	c.1469G>A	c.(1468-1470)CGG>CAG	p.R490Q	UBN1_uc010uxw.1_Missense_Mutation_p.R490Q|UBN1_uc002cyc.2_Missense_Mutation_p.R490Q	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	490	Potential.				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			skin(2)	2						CAGAGGGACCGGATTTGTTCG	0.537													A	4920883	G	A	4920883	3	1	264	1	0	0	0	0	1	0	0	0	16889	1116	39	1	1507	1	UBN1	16	4920883	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	91181	4920883	85433870	1311	130829											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524868	10524868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcccccagcagagtcttcAcagaagaggcaaaagattca	8	11	3	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:10524868A>G	uc002czu.2	+	3	618	c.391A>G	c.(391-393)ACA>GCA	p.T131A	ATF7IP2_uc002czv.2_Missense_Mutation_p.T131A|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.T131A|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CAGAGTCTTCACAGAAGAGGC	0.403													G	10524868	A	G	10524868	3	3	264	1	0	0	0	0	1	0	0	0	1088	159	6	3	393	3	ATF7IP2	16	10524868	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	5603985	10524868	79829885	1312	130830											
GPRC5B	51704	broad.mit.edu	37	chr16	19873222	19873222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttgcttctaaacggagcGctgggtcttttccccaagct	10	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:19873222G>A	uc002dgt.2	-	3	1212	c.1104C>T	c.(1102-1104)AGC>AGT	p.S368S	GPRC5B_uc010vav.1_Silent_p.S394S	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	368	Cytoplasmic (Potential).									lung(1)|breast(1)|skin(1)	3						TAAACGGAGCGCTGGGTCTTT	0.557													A	19873222	G	A	19873222	2	1	264	1	0	0	0	0	0	0	0	1	6725	1078	38	1		1	GPRC5B	16	19873222	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9348354	19873222	70481531	1313	130831											
UMOD	7369	broad.mit.edu	37	chr16	20352438	20352439	+	Frame_Shift_Ins	INS	-	-	G													tggatgatgaagtacttcagINSggggtccgtggcattgctac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:20352437_20352438A>AG	uc002dhb.3	-	7	1780_1781	c.1651_1652T>CT	c.(1651-1653)ctgfs	p.L551fs	UMOD_uc002dgz.3_Frame_Shift_Ins_p.L518fs|UMOD_uc002dha.3_Frame_Shift_Ins_p.L518fs	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	518	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						GAAGTACTTCAGGGGGTCCGTG	0.525													G	20352439	-	G	20352438	7	5	264	1	0	1	1	0	0	0	0	0	16976	991	35	0	390	0	UMOD	16	20352438	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	479216	20352438	70002315	1314	130832											
USP31	57478	broad.mit.edu	37	chr16	23080765	23080765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagagctgtgaattggCgaatcccctgaaaatcggga	13	8	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:23080765C>T	uc002dll.2	-	16	2661	c.2661G>A	c.(2659-2661)TCG>TCA	p.S887S	USP31_uc002dlk.2_Silent_p.S159S|USP31_uc010vca.1_Silent_p.S190S|USP31_uc010bxm.2_Silent_p.S175S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	887	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGTGAATTGGCGAATCCCCTG	0.517													T	23080765	C	T	23080765	2	4	264	1	0	0	0	0	0	0	0	1	17059	755	27	1		1	USP31	16	23080765	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2728327	23080765	67273988	1315	130833											
PALB2	79728	broad.mit.edu	37	chr16	23641345	23641345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattatcatcaggcgcaacCgtatttaaaggagtataaag	8	7	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:23641345C>T	uc002dlx.1	-	5	2330	c.2130G>A	c.(2128-2130)ACG>ACA	p.T710T		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	710					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		CAGGCGCAACCGTATTTAAAG	0.463			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				T	23641345	C	T	23641345	2	4	264	1	0	0	0	0	0	0	0	1	11406	639	23	1		1	PALB2	16	23641345	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	560580	23641345	66713408	1316	130834											
ARHGAP17	55114	broad.mit.edu	37	chr16	24971014	24971014	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgggctcgcatttcgggGagggtcttttctaagactgc	14	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:24971014G>A	uc002dnb.2	-	9	795	c.702C>T	c.(700-702)CTC>CTT	p.L234L	ARHGAP17_uc002dna.2_5'Flank|ARHGAP17_uc002dnc.2_Silent_p.L234L|ARHGAP17_uc010vcf.1_Silent_p.L55L|ARHGAP17_uc002dnf.2_Silent_p.L142L|ARHGAP17_uc002dng.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	234	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GCATTTCGGGGAGGGTCTTTT	0.483													A	24971014	G	A	24971014	2	1	264	1	0	0	0	0	0	0	0	1	867	1161	41	4		4	ARHGAP17	16	24971014	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1329669	24971014	65383739	1317	130835											
GTF3C1	2975	broad.mit.edu	37	chr16	27540017	27540017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatatactggtacagaCgcttaaacgtcctttcgcac	7	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:27540017C>T	uc002dov.1	-	6	915	c.875G>A	c.(874-876)CGT>CAT	p.R292H	GTF3C1_uc002dou.2_Missense_Mutation_p.R292H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	292						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTGGTACAGACGCTTAAACGT	0.448													T	27540017	C	T	27540017	3	4	264	1	0	0	0	0	1	0	0	0	6872	536	19	1	5582	1	GTF3C1	16	27540017	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2569003	27540017	62814736	1318	130836											
KIAA0556	23247	broad.mit.edu	37	chr16	27789260	27789260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccaaatcattaccaacGcgaaacggaagcagagcgtt	8	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:27789260G>A	uc002dow.2	+	27	4795	c.4771G>A	c.(4771-4773)GCG>ACG	p.A1591T	KIAA0556_uc010vco.1_Missense_Mutation_p.A93T	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1591										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CATTACCAACGCGAAACGGAA	0.507													A	27789260	G	A	27789260	3	1	264	1	0	0	0	0	1	0	0	0	8183	1087	38	1	4877	1	KIAA0556	16	27789260	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	249243	27789260	62565493	1319	130837											
TAOK2	9344	broad.mit.edu	37	chr16	29994071	29994071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaccgctttgtgctccGggagcggccacccacagtca	11	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:29994071G>A	uc002dva.1	+	11	1631	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R283Q|TAOK2_uc002dvc.1_Missense_Mutation_p.R283Q|TAOK2_uc010bzm.1_Missense_Mutation_p.R283Q|TAOK2_uc002dvd.1_Missense_Mutation_p.R110Q	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	283					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			ovary(1)	1						TTTGTGCTCCGGGAGCGGCCA	0.622													A	29994071	G	A	29994071	3	1	264	1	0	0	0	0	1	0	0	0	15545	1116	39	1	886	1	TAOK2	16	29994071	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2204811	29994071	60360682	1320	130838											
ZNF48	197407	broad.mit.edu	37	chr16	30409299	30409300	+	Frame_Shift_Ins	INS	-	-	G													aagcaccagcggacacaccgINSgggggagcagcccccccgac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:30409298_30409299C>CG	uc002dya.2	+	1	1103_1104	c.727_728C>CG	c.(727-729)cggfs	p.R243fs	ZNF48_uc021tgi.1_Frame_Shift_Ins_p.R243fs|ZNF48_uc021tgj.1_Frame_Shift_Ins_p.R120fs|ZNF48_uc021tgk.1_Frame_Shift_Ins_p.R243fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243L(2)|p.R243W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCAG	0.649													G	30409300	-	G	30409299	7	5	264	1	0	1	1	0	0	0	0	0	17931	1116	39	0	734	0	ZNF48	16	30409299	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	415228	30409299	59945454	1321	130839											
ITGAL	3683	broad.mit.edu	37	chr16	30507871	30507871	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtgggggctgagagcCagatgatcgtgctgaggtga	19	6	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:30507871C>T	uc002dyi.3	+	15	1992	c.1816C>T	c.(1816-1818)CAG>TAG	p.Q606*	ITGAL_uc002dyj.3_Nonsense_Mutation_p.Q523*|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	606	FG-GAP 7.|Extracellular (Potential).				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			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GGCTGAGAGCCAGATGATCGT	0.478													T	30507871	C	T	30507871	4	4	264	1	0	0	0	0	0	1	0	0	7886	595	21	4	1874	4	ITGAL	16	30507871	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	98572	30507871	59846882	1322	130840											
SRCAP	10847	broad.mit.edu	37	chr16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C													cccccggcctcgacgccagcINScccccccaccacctcgttcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	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)			CTCGACGCCAGCCCCCCCCACC	0.569													C	30736372	-	C	30736371	7	5	264	1	0	1	1	0	0	0	0	0	15134	739	26	0	5716	0	SRCAP	16	30736371	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	228500	30736371	59618382	1323	130841											
STX4	6810	broad.mit.edu	37	chr16	31046335	31046335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgagaactataactccGtcaacacaagaatgagaaaa	7	8	1	4	rs140610940		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:31046335G>A	uc002eal.2	+	5	576	c.352G>A	c.(352-354)GTC>ATC	p.V118I	STX4_uc002eak.2_Missense_Mutation_p.V116I|STX4_uc002eam.2_Missense_Mutation_p.V40I	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	118	Cytoplasmic (Potential).|Potential.				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				0						CTATAACTCCGTCAACACAAG	0.423													A	31046335	G	A	31046335	3	1	264	1	0	0	0	0	1	0	0	0	15346	1145	40	1	370	1	STX4	16	31046335	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	309964	31046335	59308418	1324	130842											
VKORC1	79001	broad.mit.edu	37	chr16	31104662	31104662	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagtgtgtagaagatgCaaccgaatatgctgttggat	13	5	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:31104662C>G	uc002eas.2	-	2	480	c.254G>C	c.(253-255)TGC>TCC	p.C85S	PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Intron|VKORC1_uc002eau.2_Missense_Mutation_p.C85S	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	85	Cytoplasmic (Potential).				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity				0					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GTAGAAGATGCAACCGAATAT	0.378													G	31104662	C	G	31104662	3	3	264	1	0	0	0	0	1	0	0	0	17169	710	25	5	245	5	VKORC1	16	31104662	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	58327	31104662	59250091	1325	130843											
ABCC11	85320	broad.mit.edu	37	chr16	48210854	48210854	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagcccgtccttcccacGatgcccaccacttcgtggcc	8	20	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:48210854G>A	uc002eff.1	-	24	3869	c.3519C>T	c.(3517-3519)ATC>ATT	p.I1173I	ABCC11_uc002efg.1_Silent_p.I1173I|ABCC11_uc002efh.1_Silent_p.I1173I|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1173	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCCTTCCCACGATGCCCACCA	0.547									Cerumen_Type				A	48210854	G	A	48210854	2	1	264	1	0	0	0	0	0	0	0	1	51	1048	37	1		1	ABCC11	16	48210854	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	17106192	48210854	42143899	1326	130844											
ADCY7	113	broad.mit.edu	37	chr16	50345665	50345665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttctacctggtcctgTtctacatcaccctgcttaca	4	15	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50345665T>C	uc002egd.1	+	19	2684	c.2416T>C	c.(2416-2418)TTC>CTC	p.F806L		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	806	Helical; (Potential).				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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCTGGTCCTGTTCTACATCAC	0.562													C	50345665	T	C	50345665	3	2	264	1	0	0	0	0	1	0	0	0	299	1725	60	3	2490	3	ADCY7	16	50345665	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2134811	50345665	40009088	1327	130845											
BRD7	29117	broad.mit.edu	37	chr16	50388379	50388379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaaagcttcttgaagggGtgtctgttctacttctaaag	9	7	5	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50388379G>A	uc002egf.1	-	5	470	c.403C>T	c.(403-405)CCC>TCC	p.P135S	BRD7_uc002ege.1_Missense_Mutation_p.P135S	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	135					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TCTTGAAGGGGTGTCTGTTCT	0.308													A	50388379	G	A	50388379	3	1	264	1	0	0	0	0	1	0	0	0	1505	1261	44	4	1611	4	BRD7	16	50388379	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	42714	50388379	39966374	1328	130846											
NOD2	64127	broad.mit.edu	37	chr16	50745609	50745609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtcgtgccagggagtaCggcgcccctggaattccttc	14	12	0	0	rs142077546		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50745609C>T	uc002egm.1	+	4	1892	c.1787C>T	c.(1786-1788)ACG>ATG	p.T596M	NOD2_uc010cbk.1_Missense_Mutation_p.T569M|NOD2_uc002egl.1_Missense_Mutation_p.T374M|NOD2_uc010cbl.1_Missense_Mutation_p.T374M|NOD2_uc010cbm.1_Missense_Mutation_p.T374M|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	596	NACHT.				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			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CCAGGGAGTACGGCGCCCCTG	0.572													T	50745609	C	T	50745609	3	4	264	1	0	0	0	0	1	0	0	0	10517	536	19	1	1801	1	NOD2	16	50745609	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	357230	50745609	39609144	1329	130847											
NOD2	64127	broad.mit.edu	37	chr16	50745900	50745900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcctgctggctgagtGccagacatctgagaaggccc	15	12	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50745900G>A	uc002egm.1	+	4	2183	c.2078G>A	c.(2077-2079)TGC>TAC	p.C693Y	NOD2_uc010cbk.1_Missense_Mutation_p.C666Y|NOD2_uc002egl.1_Missense_Mutation_p.C471Y|NOD2_uc010cbl.1_Missense_Mutation_p.C471Y|NOD2_uc010cbm.1_Missense_Mutation_p.C471Y|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	693					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			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CTGGCTGAGTGCCAGACATCT	0.667													A	50745900	G	A	50745900	3	1	264	1	0	0	0	0	1	0	0	0	10517	1319	46	2	2092	2	NOD2	16	50745900	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	291	50745900	39608853	1330	130848											
SALL1	6299	broad.mit.edu	37	chr16	51174602	51174602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgctcaggcacaggatAggggttcatctggatatgag	13	7	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:51174602A>G	uc010vgs.1	-	2	1562	c.1531T>C	c.(1531-1533)TAT>CAT	p.Y511H	SALL1_uc010vgr.1_Missense_Mutation_p.Y414H|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	511					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCACAGGATAGGGGTTCATC	0.517													G	51174602	A	G	51174602	3	3	264	1	0	0	0	0	1	0	0	0	13810	420	15	3	2451	3	SALL1	16	51174602	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	428702	51174602	39180151	1331	130849											
SALL1	6299	broad.mit.edu	37	chr16	51175644	51175646	+	In_Frame_Del	DEL	GCC	GCC	-													gaggtacctgtggaggagctGccgccgccgccgctgctgct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:51175643_51175645TGCC>T	uc021tif.1	-	1	519_521	c.197_199GGCA>A	c.(196-201)ggcagc>gAgc	p.66_67GS>E	SALL1_uc021tid.1_In_Frame_Del_p.66_67GS>E|SALL1_uc021tie.1_In_Frame_Del_p.163_164GS>E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	163					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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T66P(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)			GTGGAGGAgctgccgccgccgcc	0.611													-	51175646	GCC	-	51175644	7	5	264	1	0	1	0	1	0	0	0	0	13810	1306	46	0	3493	0	SALL1	16	51175644	In_Frame_Del	DEL	GCC	TCGA-HU-A4G8-01A-11D-A25D-08	1042	51175644	39179109	1332	130850											
MMP2	4313	broad.mit.edu	37	chr16	55516934	55516934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccagacaggtgatctTgaccagaataccatcgagac	9	13	1	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:55516934T>C	uc002ehz.3	+	2	578	c.267T>C	c.(265-267)CTT>CTC	p.L89L	MMP2_uc010vhd.1_Silent_p.L13L|MMP2_uc010ccc.2_Silent_p.L39L	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	89					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		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)	CAGGTGATCTTGACCAGAATA	0.537													C	55516934	T	C	55516934	2	2	264	1	0	0	0	0	0	0	0	1	9658	1799	63	3		3	MMP2	16	55516934	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4341290	55516934	34837819	1333	130851											
CES7	221223	broad.mit.edu	37	chr16	55907848	55907848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcagcaaaggggactcCgaggaacacgttcacaggca	15	10	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:55907848C>T	uc002eip.2	-	2	324	c.175G>A	c.(175-177)GGA>AGA	p.G59R	CES7_uc002eio.2_Missense_Mutation_p.G59R|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	59						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		AAGGGGACTCCGAGGAACACG	0.602													T	55907848	C	T	55907848	3	4	264	1	0	0	0	0	1	0	0	0	3272	661	23	1	1600	1	CES7	16	55907848	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	390914	55907848	34446905	1334	130852											
MT4	84560	broad.mit.edu	37	chr16	56602769	56602769	+	Frame_Shift_Del	DEL	C	C	-													tcaggctgctgtccctgctgCcccccgggctgtgccaaatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:56602768_56602768GC>G	uc002eje.1	+	2	193	c.113_113GC>G	c.(112-114)tgcfs	p.C38fs		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGC	0.602													-	56602769	C	-	56602769	7	5	264	1	0	1	0	1	0	0	0	0	9907	747	26	0	124	0	MT4	16	56602769	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	694921	56602769	33751984	1335	130853											
GPR114	221188	broad.mit.edu	37	chr16	57600566	57600566	+	Frame_Shift_Del	DEL	G	G	-													gggagccaggaaacagccctGggggggctggagccctgagg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:57600565_57600565TG>T	uc002ely.3	+	6	1124	c.601_601TG>T	c.(601-603)tggfs	p.W201fs	GPR114_uc002elx.4_Frame_Shift_Del_p.W201fs|GPR114_uc010vhr.2_Frame_Shift_Del_p.W201fs	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	201	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAACAGCCCTGGGGGGGCTG	0.607													-	57600566	G	-	57600566	7	5	264	1	0	1	0	1	0	0	0	0	6631	1357	47	0	624	0	GPR114	16	57600566	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	997797	57600566	32754187	1336	130854											
ZNF319	57567	broad.mit.edu	37	chr16	58030556	58030556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacttgaactgctgctcGcgggcgtgcacgccctggtg	13	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:58030556G>A	uc002emx.1	-	2	2237	c.1614C>T	c.(1612-1614)CGC>CGT	p.R538R		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTGCTGCTCGCGGGCGTGCA	0.657													A	58030556	G	A	58030556	2	1	264	1	0	0	0	0	0	0	0	1	17834	1074	38	1		1	ZNF319	16	58030556	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	429990	58030556	32324197	1337	130855											
CDH8	1006	broad.mit.edu	37	chr16	61747819	61747819	+	Frame_Shift_Del	DEL	T	T	-													tgtataagaaataatgtccgTttttgggatcatctttgtcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:61747819delT	uc002eog.1	-	10	1832	c.1580delA	c.(1579-1581)AACfs	p.N527fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	527	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		ATAATGTCCGTTTTTGGGATC	0.383													-	61747819	T	-	61747819	7	5	264	1	0	1	0	1	0	0	0	0	3116	1725	60	0	831	0	CDH8	16	61747819	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	3717263	61747819	28606934	1338	130856											
NOL3	8996	broad.mit.edu	37	chr16	67208145	67208145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtcgagacgctgcagGcggactcgggactgctgttg	17	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:67208145G>A	uc010vjd.1	+	2	266	c.259G>A	c.(259-261)GCG>ACG	p.A87T	NOL3_uc010vjc.1_Missense_Mutation_p.A87T|NOL3_uc002erp.2_Missense_Mutation_p.A25T			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	25	CARD.				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GACGCTGCAGGCGGACTCGGG	0.677													A	67208145	G	A	67208145	3	1	264	1	0	0	0	0	1	0	0	0	10523	1203	42	2	75	2	NOL3	16	67208145	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	5460326	67208145	23146608	1339	130857											
FAM65A	79567	broad.mit.edu	37	chr16	67576620	67576621	+	Frame_Shift_Ins	INS	-	-	C													cccaccactacaagtcctacINSccccagtggtatgggcctag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:67576619_67576620A>AC	uc010vjp.2	+	12	2176_2177	c.1990_1991A>AC	c.(1990-1992)accfs	p.T664fs	FAM65A_uc010cei.2_Frame_Shift_Ins_p.T486fs|FAM65A_uc002eth.3_Frame_Shift_Ins_p.T644fs|FAM65A_uc010cej.3_Frame_Shift_Ins_p.T648fs|FAM65A_uc002eti.2_Frame_Shift_Ins_p.T607fs|FAM65A_uc010vjq.2_Frame_Shift_Ins_p.T658fs|FAM65A_uc002etj.1_Frame_Shift_Ins_p.T643fs|FAM65A_uc002etk.3_Frame_Shift_Ins_p.T643fs	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	648	Pro-rich.					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)		TACAAGTCCTACCCCCAGTGGT	0.559													C	67576621	-	C	67576620	7	5	264	1	0	1	1	0	0	0	0	0	5599	507	18	0	1977	0	FAM65A	16	67576620	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	368475	67576620	22778133	1340	130858											
PSKH1	5681	broad.mit.edu	37	chr16	67961375	67961375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccatgaagaacctgcacCgctccatatcccagaacctc	5	17	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:67961375C>T	uc002euv.2	+	3	1275	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C		NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	369						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GAACCTGCACCGCTCCATATC	0.607													T	67961375	C	T	67961375	3	4	264	1	0	0	0	0	1	0	0	0	12664	652	23	1	1111	1	PSKH1	16	67961375	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	384755	67961375	22393378	1341	130859											
CLEC18C	283971	broad.mit.edu	37	chr16	70219800	70219800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcaggtttggcaactgCgtggagctgcaggcttcagc	15	11	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:70219800C>T	uc002exy.2	+	12	1344	c.1224C>T	c.(1222-1224)TGC>TGT	p.C408C	CLEC18C_uc010vlt.1_Silent_p.C408C|CLEC18C_uc002eyk.2_Silent_p.C408C	NM_182619	NP_872425	Q8NCF0	CL18C_HUMAN	secretory protein LOC348174 precursor	408	C-type lectin.					extracellular region	sugar binding				0						TTGGCAACTGCGTGGAGCTGC	0.587													T	70219800	C	T	70219800	2	4	264	1	0	0	0	0	0	0	0	1	3504	776	27	1		1	CLEC18C	16	70219800	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2258425	70219800	20134953	1342	130860											
CALB2	794	broad.mit.edu	37	chr16	71408718	71408718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatgataaaaactcagatgGgaaaatcgagatggcagagg	13	4	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:71408718G>T	uc002faa.3	+	3	312	c.242G>T	c.(241-243)GGG>GTG	p.G81V	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.G81V	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	81	EF-hand 2.|2; possibly ancestral (Probable).						calcium ion binding				0		Ovarian(137;0.125)				AACTCAGATGGGAAAATCGAG	0.507													T	71408718	G	T	71408718	3	4	264	1	0	0	0	0	1	0	0	0	2574	1232	43	5	252	5	CALB2	16	71408718	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1188918	71408718	18946035	1343	130861											
CHST4	10164	broad.mit.edu	37	chr16	71570593	71570593	+	Frame_Shift_Del	DEL	A	A	-													tcagcacaatgctactgcctAaaaaaatgaagctcctgctg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:71570592_71570592TA>T	uc021tkt.1	+	0	12	c.12_12TA>T	c.(10-12)cctfs	p.P4fs	CHST4_uc002fan.3_Frame_Shift_Del_p.P4fs|CHST4_uc002fao.3_Frame_Shift_Del_p.P4fs	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	4					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|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						TGCTACTGCCTAAAAAAATGA	0.463													-	71570593	A	-	71570593	7	5	264	1	0	1	0	1	0	0	0	0	3406	363	13	0	15	0	CHST4	16	71570593	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	161875	71570593	18784160	1344	130862											
DHODH	1723	broad.mit.edu	37	chr16	72055072	72055072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacaagacctcagtggaCgccgcggaggactacgcaga	13	11	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:72055072C>T	uc002fbp.2	+	5	588	c.567C>T	c.(565-567)GAC>GAT	p.D189D	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	189	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CCTCAGTGGACGCCGCGGAGG	0.647													T	72055072	C	T	72055072	2	4	264	1	0	0	0	0	0	0	0	1	4484	535	19	1		1	DHODH	16	72055072	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	484479	72055072	18299681	1345	130863											
HPR	3250	broad.mit.edu	37	chr16	72110827	72110827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctatggcgatgcgggCagtgcctttgccgttcacga	13	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:72110827C>T	uc002fby.2	+	5	924	c.894C>T	c.(892-894)GGC>GGT	p.G298G	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	298	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				GCGATGCGGGCAGTGCCTTTG	0.562													T	72110827	C	T	72110827	2	4	264	1	0	0	0	0	0	0	0	1	7337	697	25	2		2	HPR	16	72110827	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	55755	72110827	18243926	1346	130864											
DHX38	9785	broad.mit.edu	37	chr16	72131672	72131672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccgagagcccacgacatcGacctaaaggtagactcactg	9	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:72131672G>A	uc002fcb.2	+	4	963	c.608G>A	c.(607-609)CGA>CAA	p.R203Q	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	203					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			skin(1)	1		Ovarian(137;0.125)				CCACGACATCGACCTAAAGGT	0.498													A	72131672	G	A	72131672	3	1	264	1	0	0	0	0	1	0	0	0	4511	1058	37	1	618	1	DHX38	16	72131672	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	20845	72131672	18223081	1347	130865											
BCAR1	9564	broad.mit.edu	37	chr16	75271108	75271108	+	Frame_Shift_Del	DEL	C	C	-													ccatactggctgggaagcagCccccgaaccgggggcacatc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:75271108delC	uc002fdv.2	-	3	891	c.768delG	c.(766-768)GGGfs	p.G256fs	BCAR1_uc002fdt.2_5'Flank|BCAR1_uc002fdu.2_Frame_Shift_Del_p.G46fs|BCAR1_uc010cgu.2_Frame_Shift_Del_p.G227fs|BCAR1_uc010vna.1_Frame_Shift_Del_p.G254fs|BCAR1_uc010vnb.1_Frame_Shift_Del_p.G302fs|BCAR1_uc002fdw.2_Frame_Shift_Del_p.G256fs|BCAR1_uc010vnc.1_Frame_Shift_Del_p.G108fs|BCAR1_uc010vnd.1_Frame_Shift_Del_p.G274fs|BCAR1_uc002fdx.2_Frame_Shift_Del_p.G274fs	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	256	Substrate for kinases (By similarity).				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			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGAAGCAGCCCCCGAACCG	0.687													-	75271108	C	-	75271108	7	5	264	1	0	1	0	1	0	0	0	0	1348	726	26	0	1918	0	BCAR1	16	75271108	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	3139436	75271108	15083645	1348	130866											
CHST5	23563	broad.mit.edu	37	chr16	75563424	75563424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggcggtagcggccgcGcaggaagggtggcggcttga	19	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:75563424G>A	uc002fei.2	-	3	2254	c.859C>T	c.(859-861)CGC>TGC	p.R287C	CHST5_uc002fej.1_Missense_Mutation_p.R293C	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	287	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TAGCGGCCGCGCAGGAAGGGT	0.716													A	75563424	G	A	75563424	3	1	264	1	0	0	0	0	1	0	0	0	3407	1087	38	1	380	1	CHST5	16	75563424	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	292316	75563424	14791329	1349	130867											
TERF2IP	54386	broad.mit.edu	37	chr16	75681914	75681914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcgtcggctgtcgacgcTcatcctgcacggcggcggca	14	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:75681914T>C	uc002fet.1	+	1	231	c.134T>C	c.(133-135)CTC>CCC	p.L45P	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	45					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)	1						CTGTCGACGCTCATCCTGCAC	0.711													C	75681914	T	C	75681914	3	2	264	1	0	0	0	0	1	0	0	0	15760	1551	54	3	136	3	TERF2IP	16	75681914	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	118490	75681914	14672839	1350	130868											
MBTPS1	8720	broad.mit.edu	37	chr16	84132786	84132786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatcacctcaaaatcactaGggtagtcactggatggattg	10	8	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:84132786G>T	uc002fhi.2	-	3	795	c.293C>A	c.(292-294)CCT>CAT	p.P98H		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	98					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						AAAATCACTAGGGTAGTCACT	0.413													T	84132786	G	T	84132786	3	4	264	1	0	0	0	0	1	0	0	0	9361	1000	35	5	2949	5	MBTPS1	16	84132786	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8450872	84132786	6221967	1351	130869											
TAF1C	9013	broad.mit.edu	37	chr16	84213651	84213652	+	Frame_Shift_Ins	INS	-	-	G													atcctggaaggaagagactgINSgggggggcctgccaggcggg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:84213650_84213651T>TG	uc002fhn.3	-	12	1842_1843	c.1600_1601A>CA	c.(1600-1602)cagfs	p.Q534fs	TAF1C_uc010vnz.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fho.3_Frame_Shift_Ins_p.Q57fs|TAF1C_uc010voa.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fhm.3_Frame_Shift_Ins_p.Q440fs|TAF1C_uc010vnx.2_Frame_Shift_Ins_p.Q508fs|TAF1C_uc010vny.2_Frame_Shift_Ins_p.Q125fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	534					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	p.Q534fs*19(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGGAAGAGACTGGGGGGGGCCT	0.663													G	84213652	-	G	84213651	7	5	264	1	0	1	1	0	0	0	0	0	15518	1357	47	0	1017	0	TAF1C	16	84213651	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	80865	84213651	6141102	1352	130870											
ZDHHC7	55625	broad.mit.edu	37	chr16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-													ggattcatccagaggagtgaGgggggccccccaaagacgga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:85010038_85010038AG>A	uc010voi.1	-	8	1302	c.949_949CT>T	c.(949-951)tcafs	p.S317fs	ZDHHC7_uc002fiq.2_Frame_Shift_Del_p.S280fs|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	280						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CAGAGGAGTGAGGGGGGCCCC	0.582													-	85010039	G	-	85010039	7	5	264	1	0	1	0	1	0	0	0	0	17617	987	35	0	93	0	ZDHHC7	16	85010039	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	796388	85010039	5344714	1353	130871											
FBXO31	79791	broad.mit.edu	37	chr16	87393913	87393913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcacgcttcgcatagaCgtcccgacaagacacgcctg	8	16	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:87393913C>T	uc002fjw.2	-	2	444	c.400G>A	c.(400-402)GTC>ATC	p.V134I	FBXO31_uc010vot.1_5'UTR|FBXO31_uc002fjv.2_Missense_Mutation_p.V26I	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	134					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TTCGCATAGACGTCCCGACAA	0.398													T	87393913	C	T	87393913	3	4	264	1	0	0	0	0	1	0	0	0	5741	536	19	1	1251	1	FBXO31	16	87393913	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2383874	87393913	2960840	1354	130872											
JPH3	57338	broad.mit.edu	37	chr16	87678559	87678559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgggccagcaagatcCgcgagaaggtggaccgcgcc	15	15	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:87678559C>T	uc002fkd.2	+	2	1332	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	360	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAGCAAGATCCGCGAGAAGGT	0.672													T	87678559	C	T	87678559	3	4	264	1	0	0	0	0	1	0	0	0	7962	652	23	1	1084	1	JPH3	16	87678559	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	284646	87678559	2676194	1355	130873											
ZNF778	197320	broad.mit.edu	37	chr16	89294382	89294382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaggagaagccctttatAtgtacggtatgcaggaaatc	11	7	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89294382A>G	uc002fmv.2	+	6	1941	c.1602A>G	c.(1600-1602)ATA>ATG	p.I534M	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.I492M|ZNF778_uc010vpg.1_Missense_Mutation_p.I297M	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	534	C2H2-type 12.			I -> T (in Ref. 1; BAB71183).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCCCTTTATATGTACGGTAT	0.423													G	89294382	A	G	89294382	3	3	264	1	0	0	0	0	1	0	0	0	18148	439	16	3	1620	3	ZNF778	16	89294382	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1615823	89294382	1060371	1356	130874											
ANKRD11	29123	broad.mit.edu	37	chr16	89347320	89347320	+	Frame_Shift_Del	DEL	G	G	-													agaagacgccctctggagacGgggtgacagtgacaacggca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89347319_89347319CG>C	uc002fmx.1	-	8	6092	c.5631_5631CG>G	c.(5629-5631)ccgfs	p.P1877fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.P1877fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.P1877fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.P1834fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1877	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)		CCTCTGGAGACGGGGTGACAG	0.627													-	89347320	G	-	89347320	7	5	264	1	0	1	0	1	0	0	0	0	639	1116	39	0	2381	0	ANKRD11	16	89347320	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	52938	89347320	1007433	1357	130875											
CPNE7	27132	broad.mit.edu	37	chr16	89644042	89644042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggtgcagaggctgcgCtttgaggtgtacgacacgca	17	8	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89644042C>T	uc002fnp.2	+	2	400	c.270C>T	c.(268-270)CGC>CGT	p.R90R	CPNE7_uc002fnq.2_Silent_p.R90R	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	90	C2 1.				lipid metabolic process		transporter activity				0		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)		AGAGGCTGCGCTTTGAGGTGT	0.637													T	89644042	C	T	89644042	2	4	264	1	0	0	0	0	0	0	0	1	3817	784	28	2		2	CPNE7	16	89644042	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	296722	89644042	710711	1358	130876											
C16orf7	9605	broad.mit.edu	37	chr16	89776997	89776997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcctggcctcacctaCggcattgtggatctcctcca	12	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89776997C>T	uc002fom.1	-	10	1380	c.1255G>A	c.(1255-1257)GTA>ATA	p.V419I	C16orf7_uc002fol.1_Missense_Mutation_p.V349I|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	419					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCTCACCTACGGCATTGTGG	0.647													T	89776997	C	T	89776997	3	4	264	1	0	0	0	0	1	0	0	0	1828	536	19	1	664	1	C16orf7	16	89776997	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	132955	89776997	577756	1359	130877											
TUBB3	10381	broad.mit.edu	37	chr16	89986352	89986352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctccacaagaggcagcGcccggtccaccagggctttg	13	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89986352G>A	uc002fpf.2	+	1	1094	c.686G>A	c.(685-687)CGC>CAC	p.R229H	MC1R_uc002fpe.3_Missense_Mutation_p.R229H|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		AAGAGGCAGCGCCCGGTCCAC	0.642													A	89986352	G	A	89986352	3	1	264	1	0	0	0	0	1	0	0	0	16754	1087	38	1		1	TUBB3	16	89986352	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	209355	89986352	368401	1360	130878											
GAS8	2622	broad.mit.edu	37	chr16	90106801	90106801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaacctcgtgctagaaCgcaagctgcaggctctgagc	11	12	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:90106801C>T	uc002fqi.1	+	9	1227	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	GAS8_uc010vps.1_Missense_Mutation_p.R344C|GAS8_uc002fqh.2_Missense_Mutation_p.R286C|GAS8_uc010vpv.1_Missense_Mutation_p.R340C|GAS8_uc010cjc.1_Missense_Mutation_p.R286C|GAS8_uc010vpw.1_Missense_Mutation_p.R286C|GAS8_uc002fqj.1_Missense_Mutation_p.R177C|LOC100130015_uc002fql.2_Missense_Mutation_p.V159I|uc002fqm.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	369	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CGTGCTAGAACGCAAGCTGCA	0.607													T	90106801	C	T	90106801	3	4	264	1	0	0	0	0	1	0	0	0	6251	536	19	1	1139	1	GAS8	16	90106801	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	120449	90106801	247952	1361	130879											
PRPF8	10594	broad.mit.edu	37	chr17	1559716	1559716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatagtcttgagccagtcGtcatagaggttgaagagaac	12	6	2	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:1559716G>A	uc002fte.2	-	36	5877	c.5763C>T	c.(5761-5763)GAC>GAT	p.D1921D		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1921	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAGCCAGTCGTCATAGAGGT	0.502													A	1559716	G	A	1559716	2	1	264	1	0	0	0	0	0	0	0	1	12575	1136	40	1		1	PRPF8	17	1559716	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08		1559716	79635494	1362	130880											
HIC1	3090	broad.mit.edu	37	chr17	1961160	1961160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcgaggaccccagcccGcctggcggccacctcgaggg	15	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:1961160G>A	uc010cjy.2	+	2	1233	c.1233G>A	c.(1231-1233)CCG>CCA	p.P411P	HIC1_uc002fty.3_Silent_p.P392P|HIC1_uc002ftz.3_Silent_p.P392P	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	411					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		ACCCCAGCCCGCCTGGCGGCC	0.687													A	1961160	G	A	1961160	2	1	264	1	0	0	0	0	0	0	0	1	7101	1074	38	1		1	HIC1	17	1961160	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	401444	1961160	79234050	1363	130881											
SMG6	23293	broad.mit.edu	37	chr17	2139842	2139842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcataagctgcagcatgCgggtacttccaatgggagag	14	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:2139842C>T	uc002fub.1	-	10	2868	c.2813G>A	c.(2812-2814)CGC>CAC	p.R938H	SMG6_uc010vqv.1_Missense_Mutation_p.R30H|uc002fuc.1_5'Flank	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	938					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			central_nervous_system(2)|lung(1)|kidney(1)	4						CTGCAGCATGCGGGTACTTCC	0.473													T	2139842	C	T	2139842	3	4	264	1	0	0	0	0	1	0	0	0	14797	768	27	1	1486	1	SMG6	17	2139842	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	178682	2139842	79055368	1364	130882											
OR1A2	26189	broad.mit.edu	37	chr17	3101552	3101552	+	Frame_Shift_Del	DEL	T	T	-													tggctcccacctcacagttgTttttttatattatggtacaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3101551_3101551GT>G	uc002fvd.1	+	0	739	c.739_739GT>G	c.(739-741)gttfs	p.V247fs		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	247					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						CCTCACAGTTGTTTTTTTATA	0.453													-	3101552	T	-	3101552	7	5	264	1	0	1	0	1	0	0	0	0	10950	1725	60	0	742	0	OR1A2	17	3101552	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	961710	3101552	78093658	1365	130883											
TRPV3	162514	broad.mit.edu	37	chr17	3448468	3448468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtactcaccactgccGgatgttggaatccatgggct	12	13	1	0	rs142677176		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3448468G>A	uc002fvt.1	-	3	539	c.217C>T	c.(217-219)CGG>TGG	p.R73W	TRPV3_uc010vrh.1_Missense_Mutation_p.R57W|TRPV3_uc010vri.1_Missense_Mutation_p.R57W|TRPV3_uc010vrj.1_Missense_Mutation_p.R57W|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.R57W|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.R73W|TRPV3_uc002fvu.2_Missense_Mutation_p.R73W	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	73	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CACCACTGCCGGATGTTGGAA	0.448													A	3448468	G	A	3448468	3	1	264	1	0	0	0	0	1	0	0	0	16594	1115	39	1	2219	1	TRPV3	17	3448468	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	346916	3448468	77746742	1366	130884											
GSG2	83903	broad.mit.edu	37	chr17	3629191	3629191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagacttacactgggggaaCgtgctcttaaagaaaaccag	11	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3629191C>T	uc002fwp.2	+	1	1995	c.1962C>T	c.(1960-1962)AAC>AAT	p.N654N	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	654	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						ACTGGGGGAACGTGCTCTTAA	0.527													T	3629191	C	T	3629191	2	4	264	1	0	0	0	0	0	0	0	1	6822	535	19	1		1	GSG2	17	3629191	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	180723	3629191	77566019	1367	130885											
P2RX1	5023	broad.mit.edu	37	chr17	3819462	3819462	+	Frame_Shift_Del	DEL	G	G	-													attacgcaccagcaccatgcGgggggtgtcatactcgaaga					rs35715771		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3819461_3819461CG>C	uc002fww.3	-	0	500	c.59_59CG>G	c.(58-60)cgcfs	p.R20fs	P2RX1_uc010ckm.1_5'UTR	NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	20					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGCACCATGCGGGGGGTGTC	0.652													-	3819462	G	-	3819462	7	5	264	1	0	1	0	1	0	0	0	0	11339	1116	39	0	1189	0	P2RX1	17	3819462	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	190271	3819462	77375748	1368	130886											
ANKFY1	51479	broad.mit.edu	37	chr17	4075853	4075853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcccttggtacacacccGtgctgccgtctgcatccggc	10	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4075853G>A	uc002fxq.1	-	22	3175	c.3137C>T	c.(3136-3138)ACG>ATG	p.T1046M	ANKFY1_uc002fxn.2_Missense_Mutation_p.T1088M|ANKFY1_uc002fxo.2_Missense_Mutation_p.T1047M|ANKFY1_uc002fxp.2_Missense_Mutation_p.T1045M|ANKFY1_uc010ckp.2_Missense_Mutation_p.T988M	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1046	ANK 21.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GTACACACCCGTGCTGCCGTC	0.562													A	4075853	G	A	4075853	3	1	264	1	0	0	0	0	1	0	0	0	626	1145	40	1	388	1	ANKFY1	17	4075853	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	256391	4075853	77119357	1369	130887											
TM4SF5	9032	broad.mit.edu	37	chr17	4686188	4686188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcactctatgggatcggtgCgaggcgccccctcgcgtggt	15	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4686188C>T	uc002fyw.1	+	4	466	c.435C>T	c.(433-435)TGC>TGT	p.C145C		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	145	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1						GGGATCGGTGCGAGGCGCCCC	0.667													T	4686188	C	T	4686188	2	4	264	1	0	0	0	0	0	0	0	1	15968	776	27	1		1	TM4SF5	17	4686188	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	610335	4686188	76509022	1370	130888											
SLC25A11	8402	broad.mit.edu	37	chr17	4841682	4841682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtaggaggcgagctgggCagcattgacgacgacggccc	18	10	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4841682C>T	uc002fzo.1	-	5	702	c.589G>A	c.(589-591)GCC>ACC	p.A197T	SLC25A11_uc002fzp.1_Missense_Mutation_p.A193T|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	197	Helical; Name=4; (Potential).|Solcar 2.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						GCGAGCTGGGCAGCATTGACG	0.617													T	4841682	C	T	4841682	3	4	264	1	0	0	0	0	1	0	0	0	14473	710	25	2	371	2	SLC25A11	17	4841682	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	155494	4841682	76353528	1371	130889											
CAMTA2	23125	broad.mit.edu	37	chr17	4883808	4883808	+	Frame_Shift_Del	DEL	G	G	-													ctatcagtggaggaggctctGgggggtgagcgtgggggata							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4883807_4883807TG>T	uc010cku.2	-	8	1291	c.879_879CA>A	c.(877-879)ccafs	p.P293fs	CAMTA2_uc002gag.2_Frame_Shift_Del_p.P269fs|CAMTA2_uc002gah.2_Frame_Shift_Del_p.P270fs|CAMTA2_uc002gai.2_Frame_Shift_Del_p.P272fs|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.2_Frame_Shift_Del_p.P83fs	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	270	Ser-rich.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGGAGGCTCTGGGGGGTGAG	0.582											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	4883808	G	-	4883808	7	5	264	1	0	1	0	1	0	0	0	0	2614	1348	47	0	2909	0	CAMTA2	17	4883808	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	42126	4883808	76311402	1372	130890											
DVL2	1856	broad.mit.edu	37	chr17	7132707	7132707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccatacccatgtttagCgtgactgtgatgatattgag	9	10	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7132707C>T	uc002gez.1	-	7	1089	c.807G>A	c.(805-807)ACG>ACA	p.T269T	DVL2_uc010vtr.1_Silent_p.T263T|DVL2_uc010vts.1_Missense_Mutation_p.A181T|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	269	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						CCATGTTTAGCGTGACTGTGA	0.562													T	7132707	C	T	7132707	2	4	264	1	0	0	0	0	0	0	0	1	4836	755	27	1		1	DVL2	17	7132707	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2248899	7132707	74062503	1373	130891											
KCTD11	147040	broad.mit.edu	37	chr17	7256302	7256302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggcacccccatgccccCcaacctcaattcccaaggag	8	20	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7256302C>T	uc002gge.3	+	1	1095	c.41C>T	c.(40-42)CCC>CTC	p.P14L	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	14	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				CCCATGCCCCCCAACCTCAAT	0.612													T	7256302	C	T	7256302	3	4	264	1	0	0	0	0	1	0	0	0	8098	623	22	4	43	4	KCTD11	17	7256302	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	123595	7256302	73938908	1374	130892											
TMEM102	284114	broad.mit.edu	37	chr17	7340807	7340807	+	Frame_Shift_Del	DEL	G	G	-													gggggcggtttggcgggcgtGgggggcggggcccattaaag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7340807delG	uc002ggx.1	+	3	1782	c.1509delG	c.(1507-1509)GTGfs	p.V503fs	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Frame_Shift_Del_p.V503fs|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	503	Cytoplasmic (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				TGGCGGGCGTGGGGGGCGGGG	0.736													-	7340807	G	-	7340807	7	5	264	1	0	1	0	1	0	0	0	0	16014	1335	47	0	1515	0	TMEM102	17	7340807	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	84505	7340807	73854403	1375	130893											
FXR2	9513	broad.mit.edu	37	chr17	7499231	7499231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgctggatgttggcacCgtgagtcccaattgccagtc	13	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7499231C>T	uc002gia.1	-	8	969	c.742G>A	c.(742-744)GGT>AGT	p.G248S	FXR2_uc010vud.1_Missense_Mutation_p.G248S	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	248	KH 1.					cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		ATGTTGGCACCGTGAGTCCCA	0.552													T	7499231	C	T	7499231	3	4	264	1	0	0	0	0	1	0	0	0	6116	652	23	1	1219	1	FXR2	17	7499231	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	158424	7499231	73695979	1376	130894											
DNAH2	146754	broad.mit.edu	37	chr17	7734442	7734442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatttcatccccaaggatgGcagcctcgcttcttacaagg	8	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7734442G>A	uc002giu.1	+	79	12283	c.12269G>A	c.(12268-12270)GGC>GAC	p.G4090D	DNAH2_uc010cnm.1_Missense_Mutation_p.G1028D	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4090	TPR 4.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGGATGGCAGCCTCGCT	0.532													A	7734442	G	A	7734442	3	1	264	1	0	0	0	0	1	0	0	0	4602	1203	42	2	12583	2	DNAH2	17	7734442	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	235211	7734442	73460768	1377	130895											
KDM6B	23135	broad.mit.edu	37	chr17	7750706	7750706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcctccccggcaccaccaCcagcagcagcagtagcagca	10	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7750706C>G	uc002giw.1	+	10	1569	c.1193C>G	c.(1192-1194)ACC>AGC	p.T398S	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	398	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)|pancreas(1)	2						GGCACCACCACcagcagcagc	0.582													G	7750706	C	G	7750706	3	3	264	1	0	0	0	0	1	0	0	0	8138	507	18	5	1219	5	KDM6B	17	7750706	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	16264	7750706	73444504	1378	130896											
CHD3	1107	broad.mit.edu	37	chr17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-													atggaaatccagatgtcccaCccccccgtcctcttcaaggc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	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)				CAGATGTCCCACCCCCCCGTC	0.577													-	7798765	C	-	7798765	7	5	264	1	0	1	0	1	0	0	0	0	3326	507	18	0	1931	0	CHD3	17	7798765	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	48059	7798765	73396445	1379	130897											
MYH10	4628	broad.mit.edu	37	chr17	8396256	8396256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgctggctcagggcctcCgcgtccttcagaagcttctt	12	14	3	1	rs35712248	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:8396256C>T	uc002gll.2	-	31	4299	c.4203G>A	c.(4201-4203)GCG>GCA	p.A1401A	MYH10_uc002glm.2_Silent_p.A1432A|MYH10_uc010cnx.2_Silent_p.A1410A	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1401	Potential.				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			ovary(2)	2						TCAGGGCCTCCGCGTCCTTCA	0.537													T	8396256	C	T	8396256	2	4	264	1	0	0	0	0	0	0	0	1	10030	639	23	1		1	MYH10	17	8396256	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	597491	8396256	72798954	1380	130898											
USP43	124739	broad.mit.edu	37	chr17	9632150	9632150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccccagctctctccgccTccctcgtaaagccagcaggg	9	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:9632150T>C	uc010cod.2	+	15	3215	c.3215T>C	c.(3214-3216)CTC>CCC	p.L1072P	USP43_uc002gma.3_Missense_Mutation_p.L761P|USP43_uc010vva.1_Missense_Mutation_p.L1067P|USP43_uc010coe.2_Missense_Mutation_p.L869P|USP43_uc002gmc.3_Missense_Mutation_p.L584P	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	1072					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TCTCTCCGCCTCCCTCGTAAA	0.652													C	9632150	T	C	9632150	3	2	264	1	0	0	0	0	1	0	0	0	17071	1551	54	3	3273	3	USP43	17	9632150	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1235894	9632150	71563060	1381	130899											
MYH3	4621	broad.mit.edu	37	chr17	10533463	10533464	+	Frame_Shift_Del	DEL	CT	CT	-													ttcctcaggcccttaacagaCtctgtgttcttcttctgctc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:10533462_10533463ACT>A	uc002gmq.2	-	37	5596_5597	c.5508_5509AGT>T	c.(5506-5511)gagtctfs	p.E1836fs		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1836					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin 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						CCCTTAACAGACTCTGTGTTCT	0.55													-	10533464	CT	-	10533463	7	5	264	1	0	1	0	1	0	0	0	0	10036	564	20	0	330	0	MYH3	17	10533463	Frame_Shift_Del	DEL	CT	TCGA-HU-A4G8-01A-11D-A25D-08	901313	10533463	70661747	1382	130900											
DNAH9	1770	broad.mit.edu	37	chr17	11597638	11597638	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctatgttctgtgccctcagAttgtgcctgtgtgagaaggc	12	9	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11597638A>T	uc002gne.2	+	22	4814	c.4746A>T	c.(4744-4746)AGA>AGT	p.R1582S	DNAH9_uc010coo.2_Missense_Mutation_p.R876S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1582	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		GTGCCCTCAGATTGTGCCTGT	0.453													T	11597638	A	T	11597638	3	4	264	1	0	0	0	0	1	0	0	0	4608	347	12	5	4832	5	DNAH9	17	11597638	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1064175	11597638	69597572	1383	130901											
DNAH9	1770	broad.mit.edu	37	chr17	11607737	11607737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatgcccgggatgtggTagccaagatgattgctcaga	14	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11607737T>C	uc002gne.2	+	25	5437	c.5369T>C	c.(5368-5370)GTA>GCA	p.V1790A	DNAH9_uc010coo.2_Missense_Mutation_p.V1084A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1790	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		CGGGATGTGGTAGCCAAGATG	0.502													C	11607737	T	C	11607737	3	2	264	1	0	0	0	0	1	0	0	0	4608	1638	57	3	5467	3	DNAH9	17	11607737	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	10099	11607737	69587473	1384	130902											
DNAH9	1770	broad.mit.edu	37	chr17	11833395	11833395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacctgcacaaggccctGgacaacttcactcaggtacg	9	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11833395G>A	uc002gne.2	+	63	12158	c.12090G>A	c.(12088-12090)CTG>CTA	p.L4030L	DNAH9_uc010coo.2_Intron|DNAH9_uc002gnf.2_Silent_p.L342L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4030	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		ACAAGGCCCTGGACAACTTCA	0.597													A	11833395	G	A	11833395	2	1	264	1	0	0	0	0	0	0	0	1	4608	1335	47	4		4	DNAH9	17	11833395	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	225658	11833395	69361815	1385	130903											
ZNF18	7566	broad.mit.edu	37	chr17	11896029	11896029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgaaaagctggcgtgCggtctcagggctggagagtt	16	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11896029C>T	uc002gng.1	-	4	723	c.118G>A	c.(118-120)GCA>ACA	p.A40T	ZNF18_uc002gnh.1_Missense_Mutation_p.A40T|ZNF18_uc002gni.1_Missense_Mutation_p.A40T	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	40					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGCTGGCGTGCGGTCTCAGGG	0.582													T	11896029	C	T	11896029	3	4	264	1	0	0	0	0	1	0	0	0	17744	768	27	1	1555	1	ZNF18	17	11896029	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	62634	11896029	69299181	1386	130904											
RICH2	9912	broad.mit.edu	37	chr17	12847430	12847430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggaagccgctggaggagCacctcaccatcagcggccgg	15	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:12847430C>T	uc002gnr.3	+	10	1105	c.778C>T	c.(778-780)CAC>TAC	p.H260Y	RICH2_uc010vvk.1_Missense_Mutation_p.H260Y|RICH2_uc010vvl.1_Missense_Mutation_p.H260Y|RICH2_uc002gns.3_Missense_Mutation_p.H60Y|RICH2_uc010vvm.1_Missense_Mutation_p.H260Y|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	260	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GCTGGAGGAGCACCTCACCAT	0.602													T	12847430	C	T	12847430	3	4	264	1	0	0	0	0	1	0	0	0	13357	710	25	2	816	2	RICH2	17	12847430	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	951401	12847430	68347780	1387	130905											
COX10	1352	broad.mit.edu	37	chr17	14110514	14110514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcggaggcggggacgcagGgccccctcccagctgagagc	18	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:14110514G>T	uc002gof.3	+	7	1520	c.1316G>T	c.(1315-1317)GGG>GTG	p.G439V	COX10_uc010vvs.1_Missense_Mutation_p.G222V|COX10_uc010vvt.1_Missense_Mutation_p.G247V	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	439					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GGGGACGCAGGGCCCCCTCCC	0.642													T	14110514	G	T	14110514	3	4	264	1	0	0	0	0	1	0	0	0	3762	1232	43	5	1342	5	COX10	17	14110514	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1263084	14110514	67084696	1388	130906											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14205088	14205088	+	Frame_Shift_Del	DEL	C	C	-													ccacagctccggacgggacgCcccccaggctgccgttccgg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:14205088delC	uc002goh.1	+	1	583	c.253delC	c.(253-255)CCCfs	p.P85fs	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	85	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GGACGGGACGCCCCCCAGGCT	0.776													-	14205088	C	-	14205088	7	5	264	1	0	1	0	1	0	0	0	0	7366	739	26	0	255	0	HS3ST3B1	17	14205088	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	94574	14205088	66990122	1389	130907											
RAI1	10743	broad.mit.edu	37	chr17	17699623	17699623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcctgtggcctccgacAgcagcccgatgggctccaag	12	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:17699623A>G	uc002grm.2	+	3	3830	c.3361A>G	c.(3361-3363)AGC>GGC	p.S1121G	RAI1_uc002grn.1_Missense_Mutation_p.S1121G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1121						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCTCCGACAGCAGCCCGAT	0.672													G	17699623	A	G	17699623	3	3	264	1	0	0	0	0	1	0	0	0	13007	188	7	3	3363	3	RAI1	17	17699623	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3494535	17699623	63495587	1390	130908											
DRG2	1819	broad.mit.edu	37	chr17	18004893	18004893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaaccgggtgtacatgCcctgcctgtatgtaagtgca	13	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:18004893C>T	uc002gsh.1	+	8	773	c.718C>T	c.(718-720)CCC>TCC	p.P240S	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.P240S	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	240					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GGTGTACATGCCCTGCCTGTA	0.572													T	18004893	C	T	18004893	3	4	264	1	0	0	0	0	1	0	0	0	4762	739	26	2	748	2	DRG2	17	18004893	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	305270	18004893	63190317	1391	130909											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-													cgggaattgaagatgttgtgTttttttaagcatgataatgt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388													-	26449740	T	-	26449740	7	5	264	1	0	1	0	1	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	8444847	26449740	54745470	1392	130910											
ALDOC	230	broad.mit.edu	37	chr17	26900838	26900838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgcagaggcttgcaggGcacgcccataggagaaggta	16	8	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26900838G>A	uc002hbp.2	-	8	1059	c.914C>T	c.(913-915)GCC>GTC	p.A305V	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.A277V	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	305					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GGCTTGCAGGGCACGCCCATA	0.612													A	26900838	G	A	26900838	3	1	264	1	0	0	0	0	1	0	0	0	509	1203	42	2	188	2	ALDOC	17	26900838	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	451098	26900838	54294372	1393	130911											
KIAA0100	9703	broad.mit.edu	37	chr17	26943948	26943948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacccccaacagggggccGaactttgctgaagaggcgga	14	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26943948G>A	uc002hbu.2	-	34	6079	c.5980C>T	c.(5980-5982)CGG>TGG	p.R1994W	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Missense_Mutation_p.R323W	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1994						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ACAGGGGGCCGAACTTTGCTG	0.542													A	26943948	G	A	26943948	3	1	264	1	0	0	0	0	1	0	0	0	8154	1057	37	1	751	1	KIAA0100	17	26943948	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	43110	26943948	54251262	1394	130912											
KIAA0100	9703	broad.mit.edu	37	chr17	26961787	26961787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatttcaatgtttttgcGttccaaagaggcatagagct	10	6	1	3	rs117034424		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26961787G>A	uc002hbu.2	-	16	2917	c.2818C>T	c.(2818-2820)CGC>TGC	p.R940C		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	940						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ATGTTTTTGCGTTCCAAAGAG	0.527													A	26961787	G	A	26961787	3	1	264	1	0	0	0	0	1	0	0	0	8154	1145	40	1	3985	1	KIAA0100	17	26961787	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	17839	26961787	54233423	1395	130913											
PHF12	57649	broad.mit.edu	37	chr17	27240131	27240131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtgggaaggtgtaggTgtcttgtcagctgtttgcag	18	4	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:27240131T>C	uc002hdg.1	-	9	1988	c.1458A>G	c.(1456-1458)ACA>ACG	p.T486T	PHF12_uc010wbb.1_Silent_p.T468T|PHF12_uc002hdi.1_Silent_p.T482T|PHF12_uc002hdj.1_Silent_p.T486T|PHF12_uc010crw.1_Silent_p.T189T|PHF12_uc002hdh.1_Silent_p.T269T	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	486	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	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)			AAGGTGTAGGTGTCTTGTCAG	0.547													C	27240131	T	C	27240131	2	2	264	1	0	0	0	0	0	0	0	1	11823	1683	59	3		3	PHF12	17	27240131	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	278344	27240131	53955079	1396	130914											
SEZ6	124925	broad.mit.edu	37	chr17	27308950	27308950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttgtgacaaagtggaCgcctcgttctggctgctcag	14	10	2	1	rs61737975	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:27308950C>T	uc002hdp.2	-	2	357	c.163G>A	c.(163-165)GTC>ATC	p.V55I	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.V55I|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.V55I	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	55	Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	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)			ACAAAGTGGACGCCTCGTTCT	0.592													T	27308950	C	T	27308950	3	4	264	1	0	0	0	0	1	0	0	0	14142	536	19	1	2898	1	SEZ6	17	27308950	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	68819	27308950	53886260	1397	130915											
ATAD5	79915	broad.mit.edu	37	chr17	29161693	29161693	+	Frame_Shift_Del	DEL	A	A	-													aatcctaaacaagggaccacAaaaaatgacttcaaaaagtt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:29161693delA	uc002hfs.1	+	2	940	c.594delA	c.(592-594)ACAfs	p.T198fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.T95fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	198					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGGGACCACAAAAAATGACT	0.338													-	29161693	A	-	29161693	7	5	264	1	0	1	0	1	0	0	0	0	1076	117	5	0	600	0	ATAD5	17	29161693	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	1852743	29161693	52033517	1398	130916											
C17orf79	55352	broad.mit.edu	37	chr17	30180010	30180010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatgggtgccctcacccCgggcaggactgtcattagga	13	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:30180010C>T	uc002hgp.2	-	3	314	c.206G>A	c.(205-207)CGG>CAG	p.R69Q	C17orf79_uc010css.2_RNA	NM_018405	NP_060875	Q9NQ92	COPR5_HUMAN	chromosome 17 open reading frame 79	69					histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding				0		all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1)				GCCCTCACCCCGGGCAGGACT	0.512													T	30180010	C	T	30180010	3	4	264	1	0	0	0	0	1	0	0	0	1884	652	23	1	356	1	C17orf79	17	30180010	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1018317	30180010	51015200	1399	130917											
UTP6	55813	broad.mit.edu	37	chr17	30213045	30213045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgatccatgccaactcGcccttaaggatttcttcaga	7	11	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:30213045G>A	uc002hgr.2	-	9	740	c.657C>T	c.(655-657)GGC>GGT	p.G219G	UTP6_uc002hgq.2_Silent_p.G35G|UTP6_uc010cst.2_Silent_p.G68G|UTP6_uc010wbw.1_Silent_p.G219G	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	219					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				ATGCCAACTCGCCCTTAAGGA	0.338													A	30213045	G	A	30213045	2	1	264	1	0	0	0	0	0	0	0	1	17099	1074	38	1		1	UTP6	17	30213045	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	33035	30213045	50982165	1400	130918											
CDK5R1	8851	broad.mit.edu	37	chr17	30815147	30815147	+	Frame_Shift_Del	DEL	C	C	-													ctaccgcctgaagcacctgtCccccacggaccccgtgctct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:30815146_30815146TC>T	uc002hhn.3	+	1	729	c.508_508TC>T	c.(508-510)tccfs	p.S170fs	CDK5R1_uc010wca.1_Frame_Shift_Del_p.S170fs|CDK5R1_uc021tux.1_Frame_Shift_Del_p.S170fs|CDK5R1_uc010ctc.3_Intron	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 1 (p35) (CDK5R1), mRNA.	170					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)			GAAGCACCTGTCCCCCACGGA	0.672													-	30815147	C	-	30815147	7	5	264	1	0	1	0	1	0	0	0	0	3143	855	30	0	511	0	CDK5R1	17	30815147	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	602102	30815147	50380063	1401	130919											
TMEM132E	124842	broad.mit.edu	37	chr17	32908129	32908129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgggccgcggcggcgccGccctgctctgcctctcagcg	15	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:32908129G>A	uc002hif.2	+	1	362	c.34G>A	c.(34-36)GCC>ACC	p.A12T	C17orf102_uc002hie.1_5'Flank	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	12						integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		cggcggcgccgcccTGCTCTG	0.637													A	32908129	G	A	32908129	3	1	264	1	0	0	0	0	1	0	0	0	16045	1087	38	1	36	1	TMEM132E	17	32908129	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2092982	32908129	48287081	1402	130920											
SLFN11	91607	broad.mit.edu	37	chr17	33690360	33690360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaagatttttggcttcCttttggtcttcaggaaacag	8	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:33690360C>T	uc010ctp.2	-	4	909	c.467G>A	c.(466-468)AGG>AAG	p.R156K	SLFN11_uc010ctq.2_Missense_Mutation_p.R156K|SLFN11_uc002hjh.3_Missense_Mutation_p.R156K|SLFN11_uc002hjg.3_Missense_Mutation_p.R156K|SLFN11_uc010ctr.2_Missense_Mutation_p.R156K	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	156						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTTGGCTTCCTTTTGGTCTT	0.478													T	33690360	C	T	33690360	3	4	264	1	0	0	0	0	1	0	0	0	14733	681	24	4	2254	4	SLFN11	17	33690360	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	782231	33690360	47504850	1403	130921											
GAS2L2	246176	broad.mit.edu	37	chr17	34074067	34074067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctctctggaggccccCgtccctgctccccgttccct	8	21	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:34074067C>T	uc002hjv.1	-	5	1081	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	351					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAGGCCCCCGTCCCTGCTC	0.607													T	34074067	C	T	34074067	2	4	264	1	0	0	0	0	0	0	0	1	6247	639	23	1		1	GAS2L2	17	34074067	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	383707	34074067	47121143	1404	130922											
LHX1	3975	broad.mit.edu	37	chr17	35298007	35298007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgtcggacaaggaagcGggtagcaacgagaatgacga	15	7	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:35298007G>A	uc002hnh.1	+	3	1494	c.498G>A	c.(496-498)GCG>GCA	p.A166A	LHX1_uc010cux.1_Silent_p.A74A	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	166					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			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				ACAAGGAAGCGGGTAGCAACG	0.647													A	35298007	G	A	35298007	2	1	264	1	0	0	0	0	0	0	0	1	8770	1103	39	1		1	LHX1	17	35298007	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1223940	35298007	45897203	1405	130923											
SYNRG	11276	broad.mit.edu	37	chr17	35902432	35902432	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatcttcacttacaaaggtCgttactttggagagagatgt	10	7	2	2	rs148591048	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:35902432C>T	uc002hoa.2	-	15	2927	c.2844G>A	c.(2842-2844)ACG>ACA	p.T948T	SYNRG_uc010wde.1_Silent_p.T870T|SYNRG_uc010wdf.1_Silent_p.T870T|SYNRG_uc002hoc.2_Silent_p.T869T|SYNRG_uc002hoe.2_Silent_p.T870T|SYNRG_uc002hod.2_Silent_p.T825T|SYNRG_uc010wdg.1_Silent_p.T742T|SYNRG_uc002hob.2_Silent_p.T948T|SYNRG_uc002hof.2_Silent_p.T614T	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	948					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						TTACAAAGGTCGTTACTTTGG	0.443													T	35902432	C	T	35902432	2	4	264	1	0	0	0	0	0	0	0	1	15457	871	31	1		1	SYNRG	17	35902432	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	604425	35902432	45292778	1406	130924											
GPR179	440435	broad.mit.edu	37	chr17	36486853	36486853	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccgctcctcccgctcctTtgcttgccggtaggtctcct	8	18	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:36486853T>A	uc002hpz.2	-	11	2620	c.2599A>T	c.(2599-2601)AAG>TAG	p.K867*		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	867	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCGCTCCTTTGCTTGCCGG	0.677													A	36486853	T	A	36486853	4	1	264	1	0	0	0	0	0	1	0	0	6674	1850	64	5	4508	5	GPR179	17	36486853	Nonsense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	584421	36486853	44708357	1407	130925											
MED24	9862	broad.mit.edu	37	chr17	38182512	38182512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagccccagcatccggaCgtgggccacaagccaagcca	10	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:38182512C>T	uc002htt.2	-	19	2195	c.1882G>A	c.(1882-1884)GTC>ATC	p.V628I	MED24_uc010wer.1_5'Flank|MED24_uc010wes.1_Missense_Mutation_p.V488I|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.V653I|MED24_uc002htu.2_Missense_Mutation_p.V615I|MED24_uc010cwn.2_Missense_Mutation_p.V615I|MED24_uc010weu.1_Missense_Mutation_p.V538I|MED24_uc010wev.1_Missense_Mutation_p.V578I|MED24_uc010wew.1_Missense_Mutation_p.V569I|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	628					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			ovary(1)	1	Colorectal(19;0.000442)					AGCATCCGGACGTGGGCCACA	0.552													T	38182512	C	T	38182512	3	4	264	1	0	0	0	0	1	0	0	0	9442	536	19	1	1119	1	MED24	17	38182512	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1695659	38182512	43012698	1408	130926											
MSL1	339287	broad.mit.edu	37	chr17	38285573	38285573	+	Frame_Shift_Del	DEL	A	A	-													gaattttcaaaagtcaaaacAaaaactcctaagcactctcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:38285573delA	uc002hub.2	+	3	484	c.465delA	c.(463-465)ACAfs	p.T155fs	MSL1_uc002hua.3_Frame_Shift_Del_p.T93fs|MSL1_uc002huc.2_Frame_Shift_Del_p.T93fs|MSL1_uc002hud.2_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin	356					histone H4-K16 acetylation	MSL complex					0						AAGTCAAAACAAAAACTCCTA	0.383													-	38285573	A	-	38285573	7	5	264	1	0	1	0	1	0	0	0	0	9877	117	5	0	285	0	MSL1	17	38285573	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	103061	38285573	42909637	1409	130927											
JUP	3728	broad.mit.edu	37	chr17	39923746	39923746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagcccgtcggccaggCgcacggccatcttggcgccc	13	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:39923746C>T	uc002hxq.2	-	5	1071	c.794G>A	c.(793-795)CGC>CAC	p.R265H	JUP_uc010wfs.1_Missense_Mutation_p.R265H|JUP_uc002hxr.2_Missense_Mutation_p.R265H|JUP_uc002hxs.2_Missense_Mutation_p.R265H	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	265	ARM 3.			VRLADGL -> CAGRRA (in Ref. 1; AAA64895).	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			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GTCGGCCAGGCGCACGGCCAT	0.647													T	39923746	C	T	39923746	3	4	264	1	0	0	0	0	1	0	0	0	7972	768	27	1	1483	1	JUP	17	39923746	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1638173	39923746	41271464	1410	130928											
DHX58	79132	broad.mit.edu	37	chr17	40255769	40255769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctggttctcccgctgggcTgcctgggccgcccgcttggt	15	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40255769T>C	uc002hyw.3	-	12	1834	c.1611A>G	c.(1609-1611)GCA>GCG	p.A537A	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Silent_p.A530A	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	537	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCCGCTGGGCTGCCTGGGCCG	0.652													C	40255769	T	C	40255769	2	2	264	1	0	0	0	0	0	0	0	1	4514	1567	55	3		3	DHX58	17	40255769	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	332023	40255769	40939441	1411	130929											
KAT2A	2648	broad.mit.edu	37	chr17	40265758	40265758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactcgctgtccggggggTtgtactcgcgacagttggcg	16	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40265758T>C	uc002hyx.2	-	18	2483	c.2423A>G	c.(2422-2424)AAC>AGC	p.N808S	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	808	Bromo.				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			upper_aerodigestive_tract(1)|lung(1)	2						GTCCGGGGGGTTGTACTCGCG	0.597													C	40265758	T	C	40265758	3	2	264	1	0	0	0	0	1	0	0	0	7981	1725	60	3	94	3	KAT2A	17	40265758	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	9989	40265758	40929452	1412	130930											
KAT2A	2648	broad.mit.edu	37	chr17	40271408	40271408	+	Frame_Shift_Del	DEL	G	G	-													gacatgagtggtttcgtagcGggggaggctatcacagctct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40271407_40271407CG>C	uc002hyx.2	-	5	989	c.929_929CG>G	c.(928-930)cgcfs	p.R310fs		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	310					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	p.R310R(1)		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						GGTTTCGTAGCGGGGGAGGCT	0.587													-	40271408	G	-	40271408	7	5	264	1	0	1	0	1	0	0	0	0	7981	1116	39	0	1637	0	KAT2A	17	40271408	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	5650	40271408	40923802	1413	130931											
RAB5C	5878	broad.mit.edu	37	chr17	40282409	40282409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgacaaagcggaggaCgaggctggatttgcctaccg	13	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40282409C>T	uc002hyz.2	-	3	429	c.112G>A	c.(112-114)GTC>ATC	p.V38I	RAB5C_uc002hza.2_Missense_Mutation_p.V38I|RAB5C_uc010cxx.2_Missense_Mutation_p.V71I|RAB5C_uc010cxy.2_Intron	NM_201434	NP_958842	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family isoform a	38					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|skin(1)	2		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AAGCGGAGGACGAGGCTGGAT	0.577													T	40282409	C	T	40282409	3	4	264	1	0	0	0	0	1	0	0	0	12950	536	19	1	558	1	RAB5C	17	40282409	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	11001	40282409	40912801	1414	130932											
WNK4	65266	broad.mit.edu	37	chr17	40936457	40936457	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagggaccccggaattcatgGcccccgagatgtacgaggaa	13	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40936457G>C	uc002ibj.2	+	4	1051	c.1030G>C	c.(1030-1032)GCC>CCC	p.A344P	WNK4_uc010wgx.1_Missense_Mutation_p.W37C|WNK4_uc002ibk.1_Missense_Mutation_p.A116P|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	344	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGAATTCATGGCCCCCGAGAT	0.612													C	40936457	G	C	40936457	3	2	264	1	0	0	0	0	1	0	0	0	17377	1203	42	5	1044	5	WNK4	17	40936457	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	654048	40936457	40258753	1415	130933											
MEOX1	4222	broad.mit.edu	37	chr17	41720878	41720878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctcagagaggtccaggTttaccgcaatctcatatctg	11	11	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:41720878T>C	uc002idz.2	-	2	649	c.620A>G	c.(619-621)AAC>AGC	p.N207S	MEOX1_uc002iea.2_Intron|MEOX1_uc002ieb.2_Missense_Mutation_p.N92S	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	207	Homeobox.					nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GAGGTCCAGGTTTACCGCAAT	0.423													C	41720878	T	C	41720878	3	2	264	1	0	0	0	0	1	0	0	0	9473	1725	60	3	152	3	MEOX1	17	41720878	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	784421	41720878	39474332	1416	130934											
FZD2	2535	broad.mit.edu	37	chr17	42635401	42635402	+	Frame_Shift_Del	DEL	GC	GC	-													ccgtgccgctctatctgtgaGcgcgcgcgccagggctgcga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:42635400_42635401AGC>A	uc002igx.2	+	0	589_590	c.344_345AGC>A	c.(343-345)gagfs	p.E115fs		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	115	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	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			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCTATCTGTGAGCGCGCGCGCC	0.668													-	42635402	GC	-	42635401	7	5	264	1	0	1	0	1	0	0	0	0	6130	962	34	0	347	0	FZD2	17	42635401	Frame_Shift_Del	DEL	GC	TCGA-HU-A4G8-01A-11D-A25D-08	914523	42635401	38559809	1417	130935											
EFTUD2	9343	broad.mit.edu	37	chr17	42937314	42937314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcttgttgaccttgcgcaGgccatcaagcatcttgggca	11	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:42937314G>T	uc002ihn.2	-	18	2080	c.1819C>A	c.(1819-1821)CTG>ATG	p.L607M	EFTUD2_uc010wje.1_Missense_Mutation_p.L572M|EFTUD2_uc010wjf.1_Missense_Mutation_p.L597M	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	607						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ACCTTGCGCAGGCCATCAAGC	0.552													T	42937314	G	T	42937314	3	4	264	1	0	0	0	0	1	0	0	0	4961	991	35	5	1143	5	EFTUD2	17	42937314	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	301913	42937314	38257896	1418	130936											
KIF18B	146909	broad.mit.edu	37	chr17	43006324	43006324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgtgatcatgtcgggcGtcaggaggttggctgcttgg	16	8	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:43006324G>A	uc010wji.1	-	12	1723	c.1622C>T	c.(1621-1623)ACG>ATG	p.T541M	KIF18B_uc002iht.2_Missense_Mutation_p.T541M|KIF18B_uc010wjh.1_Missense_Mutation_p.T529M	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				CATGTCGGGCGTCAGGAGGTT	0.587													A	43006324	G	A	43006324	3	1	264	1	0	0	0	0	1	0	0	0	8281	1145	40	1	964	1	KIF18B	17	43006324	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	69010	43006324	38188886	1419	130937											
PLCD3	113026	broad.mit.edu	37	chr17	43198673	43198673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctccttgtgccacgtgCgcgagcggatcttgcggagc	15	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:43198673C>T	uc002iib.2	-	2	344	c.230G>A	c.(229-231)CGC>CAC	p.R77H		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	77	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	GTGCCACGTGCGCGAGCGGAT	0.731													T	43198673	C	T	43198673	3	4	264	1	0	0	0	0	1	0	0	0	12032	768	27	1	2194	1	PLCD3	17	43198673	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	192349	43198673	37996537	1420	130938											
HEXIM1	10614	broad.mit.edu	37	chr17	43227526	43227531	+	In_Frame_Del	DEL	GGAGCT	GGAGCT	-													ggcgacgacgcgcgtgtgcgGgagctggagctggagctgga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:43227525_43227530GGGAGCT>G	uc002iig.3	+	0	2842_2847	c.968_973GGGAGCT>G	c.(967-975)cgggagctg>cGtg	p.EL328del		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	328	Required for inhibition of ESR1-dependent transcription.				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			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGCTGGA	0.665													-	43227531	GGAGCT	-	43227526	7	5	264	1	0	1	0	1	0	0	0	0	7076	1219	43	0	971	0	HEXIM1	17	43227526	In_Frame_Del	DEL	GGAGCT	TCGA-HU-A4G8-01A-11D-A25D-08	28853	43227526	37967684	1421	130939											
WNT3	7473	broad.mit.edu	37	chr17	44847269	44847269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgtcctcgctgcagccGccccacttccagccttcgcc	8	21	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:44847269G>A	uc002ikv.2	-	3	587	c.468C>T	c.(466-468)GGC>GGT	p.G156G		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	156					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			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGCTGCAGCCGCCCCACTTCC	0.672													A	44847269	G	A	44847269	2	1	264	1	0	0	0	0	0	0	0	1	17385	1074	38	1		1	WNT3	17	44847269	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1619743	44847269	36347941	1422	130940											
HOXB8	3218	broad.mit.edu	37	chr17	46691692	46691692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcgacgggctctgctcGgagccctcggcctcctcgcc	15	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:46691692G>A	uc002inw.2	-	1	610	c.375C>T	c.(373-375)TCC>TCT	p.S125S		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCTCTGCTCGGAGCCCTCGG	0.701													A	46691692	G	A	46691692	2	1	264	1	0	0	0	0	0	0	0	1	7307	1103	39	1		1	HOXB8	17	46691692	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1844423	46691692	34503518	1423	130941											
B4GALNT2	124872	broad.mit.edu	37	chr17	47247085	47247085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccatctccaatgtgccGcataaaggtgtgagggcata	11	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:47247085G>A	uc002ion.2	+	11	1755	c.1696G>A	c.(1696-1698)GCA>ACA	p.A566T	B4GALNT2_uc010wlt.1_Missense_Mutation_p.A480T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A506T	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	566	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			CCAATGTGCCGCATAAAGGTG	0.512													A	47247085	G	A	47247085	3	1	264	1	0	0	0	0	1	0	0	0	1267	1087	38	1	1756	1	B4GALNT2	17	47247085	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	555393	47247085	33948125	1424	130942											
DLX3	1747	broad.mit.edu	37	chr17	48069029	48069029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccaggtagctgggggagGcactgtatgggagcggcggg	21	8	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48069029G>A	uc002ipy.2	-	3	942	c.716C>T	c.(715-717)GCC>GTC	p.A239V		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	239						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGGGGGAGGCACTGTATGG	0.667													A	48069029	G	A	48069029	3	1	264	1	0	0	0	0	1	0	0	0	4572	1203	42	2	151	2	DLX3	17	48069029	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	821944	48069029	33126181	1425	130943											
ITGA3	3675	broad.mit.edu	37	chr17	48154746	48154746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccttctttcctcagcccGgggcctgccaagctaatgag	10	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48154746G>A	uc010dbl.2	+	16	2538	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	ITGA3_uc010dbm.2_Missense_Mutation_p.G692R	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	692	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TCCTCAGCCCGGGGCCTGCCA	0.592													A	48154746	G	A	48154746	3	1	264	1	0	0	0	0	1	0	0	0	7877	1116	39	1	2136	1	ITGA3	17	48154746	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	85717	48154746	33040464	1426	130944											
CACNA1G	8913	broad.mit.edu	37	chr17	48655834	48655834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctaatctgtgacaccttccGaaagattgtggacagcaagt	10	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48655834G>A	uc002irk.1	+	9	2582	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R737Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R737Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R650Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R650Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R650Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R650Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R650Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	737	Cytoplasmic (Potential).|II.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	GACACCTTCCGAAAGATTGTG	0.597													A	48655834	G	A	48655834	3	1	264	1	0	0	0	0	1	0	0	0	2544	1058	37	1	2244	1	CACNA1G	17	48655834	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	501088	48655834	32539376	1427	130945											
ANKRD40	91369	broad.mit.edu	37	chr17	48777241	48777241	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcatcatcatcAtcttcttcttccacttaaaa	0	13	10	0	rs145395652		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48777241A>T	uc002iso.2	-	3	552	c.297T>A	c.(295-297)GAT>GAA	p.D99E		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	99	Poly-Asp.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcatcTTCTTCTT	0.358													T	48777241	A	T	48777241	3	4	264	1	0	0	0	0	1	0	0	0	669	214	8	5	821	5	ANKRD40	17	48777241	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	121407	48777241	32417969	1428	130946											
WFIKKN2	124857	broad.mit.edu	37	chr17	48918270	48918270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcggcatggccatgctgCgccccgatagctttgtgggc	15	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48918270C>T	uc002isv.3	+	2	2315	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R448C	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	541	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCATGCTGCGCCCCGATAG	0.622													T	48918270	C	T	48918270	3	4	264	1	0	0	0	0	1	0	0	0	17356	768	27	1	1627	1	WFIKKN2	17	48918270	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	141029	48918270	32276940	1429	130947											
COX11	1353	broad.mit.edu	37	chr17	53045966	53045966	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggatccagcgccagccacaGaaaggaacgcacctccatcc	9	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:53045966G>T	uc010wng.1	-	1	99	c.42C>A	c.(40-42)TTC>TTA	p.F14L	STXBP4_uc010dcc.1_5'Flank|STXBP4_uc002iuf.1_5'Flank|STXBP4_uc010dcd.1_5'Flank|COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.F14L	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	COX11 homolog, cytochrome c oxidase assembly	14					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			ovary(1)	1						GCCAGCCACAGAAAGGAACGC	0.617													T	53045966	G	T	53045966	3	4	264	1	0	0	0	0	1	0	0	0	3763	933	33	5	870	5	COX11	17	53045966	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4127696	53045966	28149244	1430	130948											
TMEM100	55273	broad.mit.edu	37	chr17	53798224	53798224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagccaccgcggtgaccaCgatgccggcgatgaagacaa	13	12	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:53798224C>T	uc002iuj.3	-	2	519	c.208G>A	c.(208-210)GTG>ATG	p.V70M	TMEM100_uc002iuk.3_Missense_Mutation_p.V70M	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	70	Helical; (Potential).					integral to membrane					0						GCGGTGACCACGATGCCGGCG	0.527													T	53798224	C	T	53798224	3	4	264	1	0	0	0	0	1	0	0	0	16012	536	19	1	200	1	TMEM100	17	53798224	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	752258	53798224	27396986	1431	130949											
AKAP1	8165	broad.mit.edu	37	chr17	55184399	55184399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttgcacagagaccagctCgagccccagggacaaggcca	11	15	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:55184399C>T	uc002iux.2	+	2	1805	c.1574C>T	c.(1573-1575)TCG>TTG	p.S525L	AKAP1_uc010wnl.1_Missense_Mutation_p.S525L|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.S525L	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	525					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					GAGACCAGCTCGAGCCCCAGG	0.572													T	55184399	C	T	55184399	3	4	264	1	0	0	0	0	1	0	0	0	445	893	31	1	1576	1	AKAP1	17	55184399	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1386175	55184399	26010811	1432	130950											
BZRAP1	9256	broad.mit.edu	37	chr17	56386100	56386100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgatgctgatgcccccGctgcccgcctcctgctcatc	10	18	1	2	rs138510032		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:56386100G>A	uc002ivx.3	-	22	5404	c.4533C>T	c.(4531-4533)AGC>AGT	p.S1511S	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Silent_p.S1451S|BZRAP1_uc010wnt.1_Silent_p.S1511S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1511						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGATGCCCCCGCTGCCCGCCT	0.637													A	56386100	G	A	56386100	2	1	264	1	0	0	0	0	0	0	0	1	1577	1078	38	1		1	BZRAP1	17	56386100	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1201701	56386100	24809110	1433	130951											
C17orf47	284083	broad.mit.edu	37	chr17	56620563	56620563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgcggccaacctcgcTgtttcctcggattggggtcc	12	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:56620563T>C	uc002iwq.1	-	1	1121	c.985A>G	c.(985-987)AGC>GGC	p.S329G	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	329										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAACCTCGCTGTTTCCTCGG	0.537													C	56620563	T	C	56620563	3	2	264	1	0	0	0	0	1	0	0	0	1858	1580	55	3	735	3	C17orf47	17	56620563	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	234463	56620563	24574647	1434	130952											
RNFT1	51136	broad.mit.edu	37	chr17	58040394	58040394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccatgggcacagctatggAcacctgaccttatatttctg	8	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:58040394A>G	uc002iya.2	-	2	401	c.308T>C	c.(307-309)GTC>GCC	p.V103A	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.V103A|RNFT1_uc002iyd.3_Missense_Mutation_p.V103A	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	103						integral to membrane	zinc ion binding				0	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)			ACAGCTATGGACACCTGACCT	0.473													G	58040394	A	G	58040394	3	3	264	1	0	0	0	0	1	0	0	0	13501	275	10	3	1031	3	RNFT1	17	58040394	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1419831	58040394	23154816	1435	130953											
ACE	1636	broad.mit.edu	37	chr17	61560426	61560426	+	Frame_Shift_Del	DEL	A	A	-													cttgctaaaaatggcactggAaaaaattgccttcctgccct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:61560425_61560425GA>G	uc002jau.2	+	8	1412	c.1378_1378GA>G	c.(1378-1380)gaafs	p.E460fs	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Frame_Shift_Del_p.E277fs|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	460	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)	AATGGCACTGGAAAAAATTGC	0.527													-	61560426	A	-	61560426	7	5	264	1	0	1	0	1	0	0	0	0	136	246	9	0	1413	0	ACE	17	61560426	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	3520032	61560426	19634784	1436	130954											
CCDC47	57003	broad.mit.edu	37	chr17	61838688	61838690	+	In_Frame_Del	DEL	CTT	CTT	-													caactttcctgtgcttgtggCttctttgttagttccatcat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:61838687_61838689GCTT>G	uc002jbs.4	-	4	906_908	c.570_572AAGC>C	c.(568-573)gaagcc>gaCc	p.190_191EA>D	CCDC47_uc010ddx.3_In_Frame_Del_p.190_191EA>D|CCDC47_uc002jbt.2_In_Frame_Del_p.190_191EA>D	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	190						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TGTGCTTGTGGCTTCTTTGTTAG	0.502													-	61838690	CTT	-	61838688	7	5	264	1	0	1	0	1	0	0	0	0	2818	797	28	0	916	0	CCDC47	17	61838688	In_Frame_Del	DEL	CTT	TCGA-HU-A4G8-01A-11D-A25D-08	278262	61838688	19356522	1437	130955											
SCN4A	6329	broad.mit.edu	37	chr17	62049987	62049987	+	Frame_Shift_Del	DEL	G	G	-													ggatgccgatgacctccggcGgggggtctccgtagatcatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:62049987delG	uc002jds.1	-	1	292	c.215delC	c.(214-216)CCGfs	p.P72fs		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	72					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GACCTCCGGCGGGGGGTCTCC	0.532													-	62049987	G	-	62049987	7	5	264	1	0	1	0	1	0	0	0	0	13920	1116	39	0	5391	0	SCN4A	17	62049987	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	211299	62049987	19145223	1438	130956											
TEX2	55852	broad.mit.edu	37	chr17	62290289	62290289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactttactctccccctccGtttccaaatcgaagtcctca	3	17	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:62290289G>A	uc002jec.2	-	2	1462	c.1289C>T	c.(1288-1290)ACG>ATG	p.T430M	TEX2_uc002jed.2_Missense_Mutation_p.T430M|TEX2_uc002jee.2_Missense_Mutation_p.T430M	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	430					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCCCCTCCGTTTCCAAATC	0.468													A	62290289	G	A	62290289	3	1	264	1	0	0	0	0	1	0	0	0	15778	1145	40	1	2159	1	TEX2	17	62290289	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	240302	62290289	18904921	1439	130957											
CACNG1	786	broad.mit.edu	37	chr17	65040940	65040940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccacttcggcctctggcGgatttgtaccaagcgcatcc	11	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:65040940G>A	uc002jfu.2	+	1	235	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	55					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	GGCCTCTGGCGGATTTGTACC	0.657													A	65040940	G	A	65040940	3	1	264	1	0	0	0	0	1	0	0	0	2556	1116	39	1	166	1	CACNG1	17	65040940	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2750651	65040940	16154270	1440	130958											
SLC16A6	9120	broad.mit.edu	37	chr17	66270150	66270150	+	Frame_Shift_Del	DEL	C	C	-													atcccggtgctgacaagtagCccccccaacatcactaccag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:66270149_66270149GC>G	uc002jha.2	-	3	608	c.295_295GC>C	c.(295-297)ctafs	p.L99fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Del_p.L99fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	99						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAAC	0.532													-	66270150	C	-	66270150	7	5	264	1	0	1	0	1	0	0	0	0	14412	726	26	0	1293	0	SLC16A6	17	66270150	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1229210	66270150	14925060	1441	130959											
ABCA5	23461	broad.mit.edu	37	chr17	67261049	67261049	+	Splice_Site	DEL	A	A	-													ttgagtataagctttgatctAaaaaaaatgaaaaacaattt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:67261048_67261048TA>T	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					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)					AGCTTTGATCTAAAAAAAATG	0.259													-	67261049	A	-	67261049	8	5	264	1	0	1	0	1	0	0	1	0	35	377	13	0		0	ABCA5	17	67261049	Splice_Site	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	990899	67261049	13934161	1442	130960											
ABCA5	23461	broad.mit.edu	37	chr17	67287378	67287378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagaaggtgggcagagtcCacaaagaatattcatcaatg	10	7	3	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:67287378C>T	uc002jif.2	-	11	2803	c.1585G>A	c.(1585-1587)GGA>AGA	p.G529R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.G529R|ABCA5_uc002jih.2_Missense_Mutation_p.G529R|ABCA5_uc010dfe.2_Missense_Mutation_p.G529R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	529	ABC transporter 1.				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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GGGCAGAGTCCACAAAGAATA	0.338													T	67287378	C	T	67287378	3	4	264	1	0	0	0	0	1	0	0	0	35	603	21	4	3455	4	ABCA5	17	67287378	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	26329	67287378	13907832	1443	130961											
SDK2	54549	broad.mit.edu	37	chr17	71394282	71394282	+	Frame_Shift_Del	DEL	G	G	-													atctttctagaaggctgactGggggggctggtgcccacgat							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:71394281_71394281TG>T	uc010dfm.3	-	23	3247	c.3247_3247CA>A	c.(3247-3249)agtfs	p.S1083fs	SDK2_uc002jjt.4_Frame_Shift_Del_p.S242fs|SDK2_uc010dfn.2_Frame_Shift_Del_p.S762fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1083	Fibronectin type-III 5.				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						GAAGGCTGACTGGGGGGGCTG	0.622													-	71394282	G	-	71394282	7	5	264	1	0	1	0	1	0	0	0	0	13969	1335	47	0	3360	0	SDK2	17	71394282	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	4106904	71394282	9800928	1444	130962											
KIF19	124602	broad.mit.edu	37	chr17	72348411	72348411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctacgaagtgtacctgCgggagctggaggagggcagc	17	9	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72348411C>T	uc002jkm.3	+	14	2050	c.1912C>T	c.(1912-1914)CGG>TGG	p.R638W	KIF19_uc002jkl.2_Missense_Mutation_p.R596W	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	638					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						AGTGTACCTGCGGGAGCTGGA	0.697													T	72348411	C	T	72348411	3	4	264	1	0	0	0	0	1	0	0	0	8282	759	27	1	1966	1	KIF19	17	72348411	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	954129	72348411	8846799	1445	130963											
BTBD17	388419	broad.mit.edu	37	chr17	72353317	72353317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaggcgctgccgttgaCgtcgaagaacttggcgtagt	15	9	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72353317C>T	uc002jkn.2	-	3	916	c.916G>A	c.(916-918)GTC>ATC	p.V306I		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	306						extracellular region					0						CTGCCGTTGACGTCGAAGAAC	0.726													T	72353317	C	T	72353317	3	4	264	1	0	0	0	0	1	0	0	0	1542	536	19	1	524	1	BTBD17	17	72353317	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4906	72353317	8841893	1446	130964											
BTBD17	388419	broad.mit.edu	37	chr17	72353616	72353616	+	Frame_Shift_Del	DEL	C	C	-													gcagctcggggctcacggcgCcccactcggtgctggccgcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72353616delC	uc002jkn.2	-	3	617	c.617delG	c.(616-618)GGCfs	p.G206fs		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	206	BACK.					extracellular region					0						GCTCACGGCGCCCCACTCGGT	0.701													-	72353616	C	-	72353616	7	5	264	1	0	1	0	1	0	0	0	0	1542	739	26	0	823	0	BTBD17	17	72353616	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	299	72353616	8841594	1447	130965											
C17orf28	283987	broad.mit.edu	37	chr17	72954478	72954478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgtccatgggcacgcGgattgagtagggtttgttca	16	6	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72954478G>A	uc002jmj.3	-	11	1485	c.1336C>T	c.(1336-1338)CGC>TGC	p.R446C	C17orf28_uc010wrs.1_Missense_Mutation_p.R245C	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	446						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					ATGGGCACGCGGATTGAGTAG	0.642											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72954478	G	A	72954478	3	1	264	1	0	0	0	0	1	0	0	0	1853	1116	39	1	1066	1	C17orf28	17	72954478	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	600862	72954478	8240732	1448	130966											
CASKIN2	57513	broad.mit.edu	37	chr17	73502463	73502463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacccgtcttggtctggcGgttgatctcgatcccagctc	11	14	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:73502463G>A	uc002joc.2	-	8	1199	c.649C>T	c.(649-651)CGC>TGC	p.R217C	CASKIN2_uc010wsc.1_Missense_Mutation_p.R135C|CASKIN2_uc002jod.2_Missense_Mutation_p.R217C	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	217	ANK 5.					cytoplasm				pancreas(1)	1	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)			TTGGTCTGGCGGTTGATCTCG	0.677													A	73502463	G	A	73502463	3	1	264	1	0	0	0	0	1	0	0	0	2667	1116	39	1	3011	1	CASKIN2	17	73502463	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	547985	73502463	7692747	1449	130967											
ITGB4	3691	broad.mit.edu	37	chr17	73746884	73746884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaaggtgtgcgcctacGgggctcagggcgagggaccc	18	10	1	2	rs75129664	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:73746884G>A	uc002jpg.2	+	29	3785	c.3598G>A	c.(3598-3600)GGG>AGG	p.G1200R	ITGB4_uc002jph.2_Missense_Mutation_p.G1200R|ITGB4_uc002jpi.3_Missense_Mutation_p.G1200R|ITGB4_uc002jpj.2_Missense_Mutation_p.G1200R	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1200	Fibronectin type-III 1.|Cytoplasmic (Potential).				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			lung(4)	4	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)			GTGCGCCTACGGGGCTCAGGG	0.627													A	73746884	G	A	73746884	3	1	264	1	0	0	0	0	1	0	0	0	7897	1116	39	1	3708	1	ITGB4	17	73746884	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	244421	73746884	7448326	1450	130968											
EVPL	2125	broad.mit.edu	37	chr17	74015720	74015720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtctggctgactgagtcGgcctcttcctggaactgagt	14	10	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:74015720G>A	uc002jqi.2	-	10	1254	c.1026C>T	c.(1024-1026)GCC>GCT	p.A342A	EVPL_uc010wss.1_Silent_p.A342A|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	342	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGACTGAGTCGGCCTCTTCCT	0.617													A	74015720	G	A	74015720	2	1	264	1	0	0	0	0	0	0	0	1	5292	1103	39	1		1	EVPL	17	74015720	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	268836	74015720	7179490	1451	130969											
UBE2O	63893	broad.mit.edu	37	chr17	74401599	74401599	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggacgcaggactcacggtgGatcgcatgtgccggaccaca	15	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:74401599G>C	uc002jrm.3	-	2	538	c.473C>G	c.(472-474)TCC>TGC	p.S158C	UBE2O_uc002jrn.3_Missense_Mutation_p.S158C	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	158							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ACTCACGGTGGATCGCATGTG	0.602													C	74401599	G	C	74401599	3	2	264	1	0	0	0	0	1	0	0	0	16865	1174	41	5	3473	5	UBE2O	17	74401599	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	385879	74401599	6793611	1452	130970											
SEPT9	10801	broad.mit.edu	37	chr17	75483595	75483595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcccacctcagaggagCgcatccccaagaccatcgag	10	16	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:75483595C>T	uc002jts.3	+	5	1129	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C	SEPT9_uc010wtk.1_Missense_Mutation_p.R316C|SEPT9_uc002jtt.3_Missense_Mutation_p.R171C|SEPT9_uc002jtu.3_Missense_Mutation_p.R317C|SEPT9_uc002jtv.2_Missense_Mutation_p.R328C|SEPT9_uc002jtw.2_Missense_Mutation_p.R171C|SEPT9_uc010wtl.1_Missense_Mutation_p.R111C|SEPT9_uc002jty.3_Missense_Mutation_p.R84C|SEPT9_uc010wtm.1_Missense_Mutation_p.R84C|SEPT9_uc010wtn.1_Missense_Mutation_p.R84C|SEPT9_uc010dhd.2_Missense_Mutation_p.R223C	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	335					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			CTCAGAGGAGCGCATCCCCAA	0.612													T	75483595	C	T	75483595	3	4	264	1	0	0	0	0	1	0	0	0	14071	768	27	1	1495	1	SEPT9	17	75483595	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1081996	75483595	5711615	1453	130971											
DNAH17	8632	broad.mit.edu	37	chr17	76565605	76565605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccgggctcaggaaggttCgtgtctgggcaaaagagaag	15	8	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:76565605C>T	uc002jvv.1	-	4	261	c.155G>A	c.(154-156)CGA>CAA	p.R52Q						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGAAGGTTCGTGTCTGGGC	0.557													T	76565605	C	T	76565605	3	4	264	1	0	0	0	0	1	0	0	0	4601	884	31	1	12635	1	DNAH17	17	76565605	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1082010	76565605	4629605	1454	130972											
TBC1D16	125058	broad.mit.edu	37	chr17	77926509	77926509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccacgcggaacacgccGcaaatctgctccagggcgca	12	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:77926509G>A	uc002jxj.2	-	4	1004	c.888C>T	c.(886-888)TGC>TGT	p.C296C	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	296						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGAACACGCCGCAAATCTGCT	0.677													A	77926509	G	A	77926509	2	1	264	1	0	0	0	0	0	0	0	1	15602	1079	38	1		1	TBC1D16	17	77926509	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1360904	77926509	3268701	1455	130973											
C17orf56	146705	broad.mit.edu	37	chr17	79203003	79203003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttctgccagtctggcctCggcctcgctggggtctccgg	14	15	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:79203003C>T	uc002jzu.1	-	12	1325	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	C17orf56_uc002jzr.1_Missense_Mutation_p.E105K|C17orf56_uc002jzs.1_Missense_Mutation_p.E351K|C17orf56_uc002jzt.1_Missense_Mutation_p.E351K|C17orf56_uc002jzv.1_Missense_Mutation_p.E283K|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	435						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGTCTGGCCTCGGCCTCGCTG	0.701													T	79203003	C	T	79203003	3	4	264	1	0	0	0	0	1	0	0	0	1864	893	31	1	278	1	C17orf56	17	79203003	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1276494	79203003	1992207	1456	130974											
BAHCC1	57597	broad.mit.edu	37	chr17	79426602	79426602	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactggagtcagaagtctcgAtgtctgtacccgggcaacgt	12	10	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:79426602A>G	uc002kaf.2	+	21	5877	c.5877A>G	c.(5875-5877)CGA>CGG	p.R1959R	BAHCC1_uc002kae.2_Silent_p.R1189R	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	1959							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			AGAAGTCTCGATGTCTGTACC	0.667													G	79426602	A	G	79426602	2	3	264	1	0	0	0	0	0	0	0	1	1296	320	12	3		3	BAHCC1	17	79426602	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	223599	79426602	1768608	1457	130975											
DUS1L	64118	broad.mit.edu	37	chr17	80019777	80019777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacccacacccactcacCgcacagccttgatatgctcc	5	19	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:80019777C>T	uc002kdq.2	-	5	1012	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	DUS1L_uc002kdp.2_Missense_Mutation_p.R67Q|DUS1L_uc002kdr.2_Missense_Mutation_p.R198Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.R181Q	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	198					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	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)			ACCCACTCACCGCACAGCCTT	0.652													T	80019777	C	T	80019777	3	4	264	1	0	0	0	0	1	0	0	0	4805	666	23	1	864	1	DUS1L	17	80019777	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	593175	80019777	1175433	1458	130976											
ZNF750	79755	broad.mit.edu	37	chr17	80789298	80789298	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaagcaggtgagagctctGatctcgggtgaggccagtga	15	8	3	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:80789298G>A	uc002kga.2	-	2	1344	c.1033C>T	c.(1033-1035)CAG>TAG	p.Q345*	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	345						intracellular	zinc ion binding			central_nervous_system(1)	1	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)			TGAGAGCTCTGATCTCGGGTG	0.537													A	80789298	G	A	80789298	4	1	264	1	0	0	0	0	0	1	0	0	18129	1299	45	4	1146	4	ZNF750	17	80789298	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	769521	80789298	405912	1459	130977											
ENOSF1	55556	broad.mit.edu	37	chr18	677834	677834	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggaactgcagggccttCgcctgtaggagttgcttaaa	14	8	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:677834C>T	uc002kku.3	-	13	1032	c.957G>A	c.(955-957)GCG>GCA	p.A319A	ENOSF1_uc002kkt.3_Silent_p.A237A|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Silent_p.A326A|ENOSF1_uc002kkv.3_Silent_p.A306A|ENOSF1_uc002kkw.3_Silent_p.A138A|ENOSF1_uc002kkx.3_Silent_p.A243A	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	319					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						GCAGGGCCTTCGCCTGTAGGA	0.448													T	677834	C	T	677834	2	4	264	1	0	0	0	0	0	0	0	1	5125	871	31	1		1	ENOSF1	18	677834	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08		677834	77399414	1460	130978											
LAMA1	284217	broad.mit.edu	37	chr18	6948434	6948434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgcttccgtcaaagtatGttccttcctgggccactgcg	9	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:6948434G>A	uc002knm.2	-	60	8772	c.8678C>T	c.(8677-8679)ACA>ATA	p.T2893I	LAMA1_uc002knk.2_Missense_Mutation_p.T223I|LAMA1_uc002knl.2_Missense_Mutation_p.T346I|LAMA1_uc010wzj.1_Missense_Mutation_p.T2369I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2893	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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCAAAGTATGTTCCTTCCTG	0.527													A	6948434	G	A	6948434	3	1	264	1	0	0	0	0	1	0	0	0	8605	1377	48	4	565	4	LAMA1	18	6948434	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6270600	6948434	71128814	1461	130979											
VAPA	9218	broad.mit.edu	37	chr18	9931900	9931900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactacagcacctcgccGgtactgtgtgaggcccaaca	11	13	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:9931900G>A	uc002kok.2	+	2	472	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	VAPA_uc002koj.2_Missense_Mutation_p.R58Q	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	58	Cytoplasmic (Potential).|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				0						GCACCTCGCCGGTACTGTGTG	0.413													A	9931900	G	A	9931900	3	1	264	1	0	0	0	0	1	0	0	0	17118	1116	39	1	179	1	VAPA	18	9931900	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2983466	9931900	68145348	1462	130980											
TUBB6	84617	broad.mit.edu	37	chr18	12326000	12326000	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgggtgagggcatggaTgaaatggagttcaccgaggc	16	7	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:12326000T>C	uc002kqw.2	+	4	1257	c.1212T>C	c.(1210-1212)GAT>GAC	p.D404D	TUBB6_uc002kqv.2_Silent_p.D332D|TUBB6_uc002kqx.2_Silent_p.D367D|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	404					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		AGGGCATGGATGAAATGGAGT	0.587													C	12326000	T	C	12326000	2	2	264	1	0	0	0	0	0	0	0	1	16757	1461	51	3		3	TUBB6	18	12326000	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2394100	12326000	65751248	1463	130981											
ABHD3	171586	broad.mit.edu	37	chr18	19263897	19263897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccaagagattctcccccGccactcctctgttgttaaaa	5	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:19263897G>A	uc002ktl.2	-	4	679	c.539C>T	c.(538-540)GCG>GTG	p.A180V	ABHD3_uc002ktm.2_Intron|ABHD3_uc010xao.1_RNA	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	180						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						ATTCTCCCCCGCCACTCCTCT	0.279													A	19263897	G	A	19263897	3	1	264	1	0	0	0	0	1	0	0	0	83	1087	38	1	714	1	ABHD3	18	19263897	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6937897	19263897	58813351	1464	130982											
NPC1	4864	broad.mit.edu	37	chr18	21123487	21123487	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccacttctcctaggaccCtgcccagctgctgatccagg	10	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:21123487C>A	uc002kum.3	-	14	2451	c.2177G>T	c.(2176-2178)AGG>ATG	p.R726M	NPC1_uc010xaz.1_Missense_Mutation_p.R459M|NPC1_uc010xba.1_Missense_Mutation_p.R571M	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	726	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			ovary(2)	2	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)					TCCTAGGACCCTGCCCAGCTG	0.398													A	21123487	C	A	21123487	3	1	264	1	0	0	0	0	1	0	0	0	10570	681	24	5	1707	5	NPC1	18	21123487	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1859590	21123487	56953761	1465	130983											
ASXL3	80816	broad.mit.edu	37	chr18	31326159	31326159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacagttaaaagcattcgCgctaaaaagtgcagatttct	8	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:31326159C>T	uc010dmg.1	+	12	6402	c.6347C>T	c.(6346-6348)GCG>GTG	p.A2116V	ASXL3_uc002kxq.2_Missense_Mutation_p.A1823V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAAGCATTCGCGCTAAAAAGT	0.418													T	31326159	C	T	31326159	3	4	264	1	0	0	0	0	1	0	0	0	1068	768	27	1	6393	1	ASXL3	18	31326159	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	10202672	31326159	46751089	1466	130984											
ZNF397OS	100101467	broad.mit.edu	37	chr18	32843953	32843953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttccagctcctccagcaTagtcacagcttcctctccat	4	16	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:32843953T>C	uc002kym.2	-	2	592	c.364A>G	c.(364-366)ATG>GTG	p.M122V	ZNF397_uc010dmr.2_Intron|ZNF397OS_uc010xce.1_Missense_Mutation_p.M122V|ZNF397OS_uc002kyn.1_Missense_Mutation_p.M122V	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCCTCCAGCATAGTCACAGCT	0.493													C	32843953	T	C	32843953	3	2	264	1	0	0	0	0	1	0	0	0	17881	1406	49	3	1132	3	ZNF397OS	18	32843953	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1517794	32843953	45233295	1467	130985											
GALNT1	2589	broad.mit.edu	37	chr18	33243648	33243648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaatggggaaaccagtcGtcattcctaaagaggatcaa	11	7	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:33243648G>A	uc010dmu.2	+	3	249	c.196G>A	c.(196-198)GTC>ATC	p.V66I	GALNT1_uc002kyz.3_Missense_Mutation_p.V6I|GALNT1_uc002kza.2_Missense_Mutation_p.V66I|GALNT1_uc002kzb.2_Missense_Mutation_p.V66I	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	66	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GAAACCAGTCGTCATTCCTAA	0.358													A	33243648	G	A	33243648	3	1	264	1	0	0	0	0	1	0	0	0	6207	1145	40	1	202	1	GALNT1	18	33243648	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	399695	33243648	44833600	1468	130986											
CELF4	56853	broad.mit.edu	37	chr18	34854292	34854292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcctgagcgtaggcgccGtaggccccgaaagggatggc	16	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:34854292G>A	uc002lae.2	-	6	1179	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y	CELF4_uc010dnd.1_Silent_p.Y260Y|CELF4_uc002lag.2_Silent_p.Y251Y|CELF4_uc002laf.2_Silent_p.Y256Y|CELF4_uc002lai.2_Silent_p.Y246Y|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.R97W	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	261	Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich.				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			ovary(2)	2						CGTAGGCGCCGTAGGCCCCGA	0.622													A	34854292	G	A	34854292	2	1	264	1	0	0	0	0	0	0	0	1	3218	1140	40	1		1	CELF4	18	34854292	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1610644	34854292	43222956	1469	130987											
PIK3C3	5289	broad.mit.edu	37	chr18	39644789	39644789	+	Frame_Shift_Del	DEL	A	A	-													ttgaaccagataaaactgtgAaaaaggtaatttttaagtaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:39644789delA	uc002lap.2	+	23	2576	c.2518delA	c.(2518-2520)AAAfs	p.K840fs	PIK3C3_uc010xcl.1_Frame_Shift_Del_p.K777fs|PIK3C3_uc002laq.2_Frame_Shift_Del_p.K325fs	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	840	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			lung(8)|ovary(1)|breast(1)	10						TAAAACTGTGAAAAAGGTAAT	0.328										TSP Lung(28;0.18)			-	39644789	A	-	39644789	7	5	264	1	0	1	0	1	0	0	0	0	11912	247	9	0	2608	0	PIK3C3	18	39644789	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	4790497	39644789	38432459	1470	130988											
SETBP1	26040	broad.mit.edu	37	chr18	42281746	42281747	+	Frame_Shift_Ins	INS	-	-	A													agaaggtgtcccgtgctggaINSaaaaatagcaaagccacgaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:42281745_42281746G>GA	uc010dni.3	+	1	730_731	c.434_435G>GA	c.(433-435)ggafs	p.G145fs	SETBP1_uc002lay.3_Frame_Shift_Ins_p.G145fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	145						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCGTGCTGGAAAAAATAGCA	0.45									Schinzel-Giedion syndrome				A	42281747	-	A	42281746	7	5	264	1	0	1	1	0	0	0	0	0	14129	233	9	0	437	0	SETBP1	18	42281746	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	2636957	42281746	35795502	1471	130989											
ZBTB7C	201501	broad.mit.edu	37	chr18	45555704	45555704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccggccaggccggcgGcccaagggtcgggcagcggg	22	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:45555704G>A	uc002lda.2	-	2	1803	c.1787C>T	c.(1786-1788)GCC>GTC	p.A596V	ZBTB7C_uc002ldb.2_Missense_Mutation_p.A596V|ZBTB7C_uc010dnu.2_Missense_Mutation_p.A605V|ZBTB7C_uc010dnv.2_Missense_Mutation_p.A618V|ZBTB7C_uc010dnw.2_Missense_Mutation_p.A596V	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	596						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CAGGCCGGCGGCCCAAGGGTC	0.736													A	45555704	G	A	45555704	3	1	264	1	0	0	0	0	1	0	0	0	17552	1203	42	2	76	2	ZBTB7C	18	45555704	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3273958	45555704	32521544	1472	130990											
LIPG	9388	broad.mit.edu	37	chr18	47095891	47095891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtatgcaggcaacttcGtgaaaggaacggtgggccga	16	9	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:47095891G>A	uc002ldv.2	+	4	796	c.544G>A	c.(544-546)GTG>ATG	p.V182M	LIPG_uc002ldu.1_Missense_Mutation_p.V182M|LIPG_uc010xdh.1_Missense_Mutation_p.V182M	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	182					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						AGGCAACTTCGTGAAAGGAAC	0.557													A	47095891	G	A	47095891	3	1	264	1	0	0	0	0	1	0	0	0	8823	1145	40	1	558	1	LIPG	18	47095891	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1540187	47095891	30981357	1473	130991											
MYO5B	4645	broad.mit.edu	37	chr18	47402095	47402095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgttctctcttctccaGctgcacttgcagctttttcc	6	15	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:47402095G>A	uc002leb.2	-	26	3787	c.3499C>T	c.(3499-3501)CTG>TTG	p.L1167L	MYO5B_uc002lea.2_Silent_p.L308L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1167	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CTCTTCTCCAGCTGCACTTGC	0.527													A	47402095	G	A	47402095	2	1	264	1	0	0	0	0	0	0	0	1	10079	962	34	2		2	MYO5B	18	47402095	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	306204	47402095	30675153	1474	130992											
MBD2	8932	broad.mit.edu	37	chr18	51750524	51750524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggtcccctgggccccgGccccgcgctccccgacggga	15	21	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:51750524G>A	uc002lfg.1	-	1	635	c.406C>T	c.(406-408)CCG>TCG	p.P136S	MBD2_uc002lfh.1_Missense_Mutation_p.P136S|SNORA37_uc002lfi.1_5'Flank	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	136	Gly-rich.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CTGGGCCCCGGCCCCGCGCTC	0.527													A	51750524	G	A	51750524	3	1	264	1	0	0	0	0	1	0	0	0	9343	1203	42	2	1064	2	MBD2	18	51750524	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4348429	51750524	26326724	1475	130993											
WDR7	23335	broad.mit.edu	37	chr18	54358982	54358982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcattccgcagtgatgtGgggaaggcagttgaaaattt	13	5	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:54358982G>A	uc002lgk.1	+	9	1111	c.900G>A	c.(898-900)GTG>GTA	p.V300V	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.V300V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	300										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GCAGTGATGTGGGGAAGGCAG	0.323													A	54358982	G	A	54358982	2	1	264	1	0	0	0	0	0	0	0	1	17317	1335	47	4		4	WDR7	18	54358982	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2608458	54358982	23718266	1476	130994											
ONECUT2	9480	broad.mit.edu	37	chr18	55143924	55143924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgagcacagggggctcctCgtccacctccagcacgtgta	11	15	1	1	rs3745073		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:55143924C>T	uc002lgo.2	+	2	1516	c.1484C>T	c.(1483-1485)TCG>TTG	p.S495L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	495					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GGGGGCTCCTCGTCCACCTCC	0.557													T	55143924	C	T	55143924	3	4	264	1	0	0	0	0	1	0	0	0	10869	893	31	1	1490	1	ONECUT2	18	55143924	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	784942	55143924	22933324	1477	130995											
NEDD4L	23327	broad.mit.edu	37	chr18	56001085	56001085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggttgaggtcatgcagTgtcaccgacgcagttgcaga	13	9	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:56001085T>C	uc002lgy.2	+	12	1300	c.1026T>C	c.(1024-1026)AGT>AGC	p.S342S	NEDD4L_uc002lgz.2_Silent_p.S342S|NEDD4L_uc002lgx.2_Silent_p.S342S|NEDD4L_uc010xee.1_Silent_p.S221S|NEDD4L_uc002lhc.2_Silent_p.S334S|NEDD4L_uc002lhd.2_Silent_p.S221S|NEDD4L_uc002lhb.2_Silent_p.S221S|NEDD4L_uc002lhe.2_Silent_p.S334S|NEDD4L_uc002lhf.2_Silent_p.S221S|NEDD4L_uc002lhg.2_Silent_p.S221S|NEDD4L_uc002lhh.2_Silent_p.S221S|NEDD4L_uc010dpm.1_Silent_p.S193S	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	342					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	p.S342I(1)		lung(4)	4						GGTCATGCAGTGTCACCGACG	0.438													C	56001085	T	C	56001085	2	2	264	1	0	0	0	0	0	0	0	1	10311	1693	59	3		3	NEDD4L	18	56001085	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	857161	56001085	22076163	1478	130996											
NEDD4L	23327	broad.mit.edu	37	chr18	56052795	56052795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtgaacagggtccagAagcagatgaacgccttcttg	12	8	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:56052795A>G	uc002lgy.2	+	26	2738	c.2464A>G	c.(2464-2466)AAG>GAG	p.K822E	NEDD4L_uc002lgz.2_Missense_Mutation_p.K758E|NEDD4L_uc002lgx.2_Missense_Mutation_p.K802E|NEDD4L_uc010xee.1_Missense_Mutation_p.K701E|NEDD4L_uc002lhc.2_Missense_Mutation_p.K814E|NEDD4L_uc002lhd.2_Missense_Mutation_p.K701E|NEDD4L_uc002lhb.2_Missense_Mutation_p.K681E|NEDD4L_uc002lhe.2_Missense_Mutation_p.K794E|NEDD4L_uc002lhf.2_Missense_Mutation_p.K681E|NEDD4L_uc002lhg.2_Missense_Mutation_p.K701E|NEDD4L_uc002lhh.2_Missense_Mutation_p.K597E|NEDD4L_uc010dpn.2_Missense_Mutation_p.K25E	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	822	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						CAGGGTCCAGAAGCAGATGAA	0.532													G	56052795	A	G	56052795	3	3	264	1	0	0	0	0	1	0	0	0	10311	247	9	3	2594	3	NEDD4L	18	56052795	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	51710	56052795	22024453	1479	130997											
ZNF532	55205	broad.mit.edu	37	chr18	56586743	56586743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgacatcccttctgtcGtctccagcatcagccgccgt	8	16	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:56586743G>A	uc002lho.2	+	4	1771	c.1224G>A	c.(1222-1224)TCG>TCA	p.S408S	ZNF532_uc002lhp.2_Silent_p.S406S|ZNF532_uc010xeg.1_Silent_p.S406S|ZNF532_uc002lhr.2_Silent_p.S406S|ZNF532_uc002lhs.2_Silent_p.S406S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CCCTTCTGTCGTCTCCAGCAT	0.587													A	56586743	G	A	56586743	2	1	264	1	0	0	0	0	0	0	0	1	17969	1132	40	1		1	ZNF532	18	56586743	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	533948	56586743	21490505	1480	130998											
SERPINB4	6318	broad.mit.edu	37	chr18	61305210	61305210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatccccattgaagatatTcaccattcccatggttctca	5	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:61305210T>C	uc002ljf.2	-	8	1002	c.916A>G	c.(916-918)AAT>GAT	p.N306D	SERPINB4_uc002lje.2_Missense_Mutation_p.N285D|SERPINB4_uc002ljg.2_Missense_Mutation_p.N306D	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	306					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TTGAAGATATTCACCATTCCC	0.478													C	61305210	T	C	61305210	3	2	264	1	0	0	0	0	1	0	0	0	14103	1783	62	3	260	3	SERPINB4	18	61305210	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4718467	61305210	16772038	1481	130999											
CDH7	1005	broad.mit.edu	37	chr18	63547804	63547804	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaacctcaacgtcatcCgagacaccaagacccggagg	10	13	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:63547804C>A	uc002ljz.2	+	12	2357	c.2032C>A	c.(2032-2034)CGA>AGA	p.R678R	CDH7_uc002lkb.2_Silent_p.R678R	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	678	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CAACGTCATCCGAGACACCAA	0.473													A	63547804	C	A	63547804	2	1	264	1	0	0	0	0	0	0	0	1	3115	644	23	5		5	CDH7	18	63547804	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2242594	63547804	14529444	1482	131000											
DSEL	92126	broad.mit.edu	37	chr18	65181597	65181597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagctctaaaaagatgcaaAtggcttgcacgagacttttg	9	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:65181597A>G	uc002lke.1	-	2	1503	c.279T>C	c.(277-279)CAT>CAC	p.H93H		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	83						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AAAGATGCAAATGGCTTGCAC	0.418													G	65181597	A	G	65181597	2	3	264	1	0	0	0	0	0	0	0	1	4775	98	4	3		3	DSEL	18	65181597	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1633793	65181597	12895651	1483	131001											
RTTN	25914	broad.mit.edu	37	chr18	67684750	67684750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgctcatctctgttAgtaagtctagacagccatca	7	9	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:67684750A>G	uc002lkp.2	-	46	6382	c.6314T>C	c.(6313-6315)CTA>CCA	p.L2105P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1193P|RTTN_uc002lkn.2_Missense_Mutation_p.L95P|RTTN_uc010dqp.2_Missense_Mutation_p.L357P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2105							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CATCTCTGTTAGTAAGTCTAG	0.393													G	67684750	A	G	67684750	3	3	264	1	0	0	0	0	1	0	0	0	13737	420	15	3	382	3	RTTN	18	67684750	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	2503153	67684750	10392498	1484	131002											
CNDP2	55748	broad.mit.edu	37	chr18	72173217	72173217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaggacggctgggacaGcgagcccttcaccctggtgg	16	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:72173217G>A	uc002llm.1	+	4	500	c.338G>A	c.(337-339)AGC>AAC	p.S113N	CNDP2_uc002lln.1_Intron|CNDP2_uc002llo.2_Missense_Mutation_p.S113N|CNDP2_uc002llp.1_5'Flank	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	113						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGCTGGGACAGCGAGCCCTTC	0.617													A	72173217	G	A	72173217	3	1	264	1	0	0	0	0	1	0	0	0	3594	971	34	2	348	2	CNDP2	18	72173217	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4488467	72173217	5904031	1485	131003											
ZNF516	9658	broad.mit.edu	37	chr18	74091456	74091456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagagcgcagggacctcCggaatggctctccttattct	10	14	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:74091456C>T	uc010dqx.1	-	3	2849	c.2614G>A	c.(2614-2616)GGA>AGA	p.G872R	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGGGACCTCCGGAATGGCTC	0.642													T	74091456	C	T	74091456	3	4	264	1	0	0	0	0	1	0	0	0	17957	661	23	1	894	1	ZNF516	18	74091456	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1918239	74091456	3985792	1486	131004											
ZNF236	7776	broad.mit.edu	37	chr18	74561514	74561514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgaatgcggagaacactAattatgcctatcaagttcca	7	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:74561514A>G	uc002lmi.2	+	2	280	c.82A>G	c.(82-84)AAT>GAT	p.N28D	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.N28D	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	28					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		GGAGAACACTAATTATGCCTA	0.338													G	74561514	A	G	74561514	3	3	264	1	0	0	0	0	1	0	0	0	17786	362	13	3	88	3	ZNF236	18	74561514	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	470058	74561514	3515734	1487	131005											
SALL3	27164	broad.mit.edu	37	chr18	76753350	76753350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaagtgcaacatctgCgggaaccgcttctccaccaa	7	16	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:76753350C>T	uc002lmt.2	+	2	1359	c.1359C>T	c.(1357-1359)TGC>TGT	p.C453C	SALL3_uc010dra.2_Silent_p.C60C	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	453	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		GCAACATCTGCGGGAACCGCT	0.607													T	76753350	C	T	76753350	2	4	264	1	0	0	0	0	0	0	0	1	13812	776	27	1		1	SALL3	18	76753350	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2191836	76753350	1323898	1488	131006											
SALL3	27164	broad.mit.edu	37	chr18	76754298	76754298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccagatccccaacacGccgctgccggagggcttcca	13	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:76754298G>A	uc002lmt.2	+	2	2307	c.2307G>A	c.(2305-2307)ACG>ACA	p.T769T	SALL3_uc010dra.2_Silent_p.T376T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		TCCCCAACACGCCGCTGCCGG	0.632													A	76754298	G	A	76754298	2	1	264	1	0	0	0	0	0	0	0	1	13812	1074	38	1		1	SALL3	18	76754298	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	948	76754298	1322950	1489	131007											
CTDP1	9150	broad.mit.edu	37	chr18	77475506	77475506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcccctgacagggccacGcacctgatcgccgcgcgagc	13	18	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:77475506G>A	uc002lnh.1	+	8	2193	c.2046G>A	c.(2044-2046)ACG>ACA	p.T682T	CTDP1_uc002lni.1_Silent_p.T682T|CTDP1_uc010drd.1_Silent_p.T682T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	682	BRCT.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACAGGGCCACGCACCTGATCG	0.672													A	77475506	G	A	77475506	2	1	264	1	0	0	0	0	0	0	0	1	4002	1074	38	1		1	CTDP1	18	77475506	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	721208	77475506	601742	1490	131008											
LPPR3	79948	broad.mit.edu	37	chr19	813080	813080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcggccgccttggggccCggcgcgcccggagccttgga	17	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:813080C>T	uc002lpx.1	-	8	1711	c.1647G>A	c.(1645-1647)CCG>CCA	p.P549P	LPPR3_uc010dru.1_Intron|LPPR3_uc002lpw.1_Silent_p.P577P|LPPR3_uc002lpy.1_Silent_p.P330P|hsa-mir-3187|MI0014231_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	549						integral to membrane	phosphatidate phosphatase activity				0						CCTTGGGGCCCGGCGCGCCCG	0.721													T	813080	C	T	813080	2	4	264	1	0	0	0	0	0	0	0	1	8926	639	23	1		1	LPPR3	19	813080	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08		813080	58315903	1491	131009											
LPPR3	79948	broad.mit.edu	37	chr19	813181	813181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgagccacttggcgcGcaccccggcgccgcttttgg	12	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:813181G>A	uc002lpx.1	-	8	1610	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	LPPR3_uc010dru.1_Missense_Mutation_p.R428C|LPPR3_uc002lpw.1_Missense_Mutation_p.R544C|LPPR3_uc002lpy.1_Missense_Mutation_p.R297C|hsa-mir-3187|MI0014231_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	516						integral to membrane	phosphatidate phosphatase activity				0						CACTTGGCGCGCACCCCGGCG	0.647													A	813181	G	A	813181	3	1	264	1	0	0	0	0	1	0	0	0	8926	1087	38	1	614	1	LPPR3	19	813181	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	101	813181	58315802	1492	131010											
AZU1	566	broad.mit.edu	37	chr19	830738	830738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaacctcaccagcagcGtgacgatactgccactgcct	9	16	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:830738G>A	uc002lpz.1	+	4	407	c.391G>A	c.(391-393)GTG>ATG	p.V131M		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	131	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		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)		CACCAGCAGCGTGACGATACT	0.682													A	830738	G	A	830738	3	1	264	1	0	0	0	0	1	0	0	0	1243	1145	40	1	405	1	AZU1	19	830738	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	17557	830738	58298245	1493	131011											
ABCA7	10347	broad.mit.edu	37	chr19	1043781	1043781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtccgggaggtgtgggagAtgctgggaccccggatcttc	17	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1043781A>G	uc002lqw.3	+	10	1219	c.988A>G	c.(988-990)ATG>GTG	p.M330V	ABCA7_uc010dsb.1_Missense_Mutation_p.M192V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	330	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		GGTGTGGGAGATGCTGGGACC	0.632													G	1043781	A	G	1043781	3	3	264	1	0	0	0	0	1	0	0	0	37	333	12	3	1022	3	ABCA7	19	1043781	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	213043	1043781	58085202	1494	131012											
HMHA1	23526	broad.mit.edu	37	chr19	1080261	1080261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttccactaggtcccccGtcatgcgtgcccggaagagc	10	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1080261G>A	uc002lqz.1	+	14	1942	c.1711G>A	c.(1711-1713)GTC>ATC	p.V571I	HMHA1_uc010xgd.1_Missense_Mutation_p.V587I|HMHA1_uc010xge.1_Missense_Mutation_p.V411I|HMHA1_uc002lra.1_Missense_Mutation_p.V411I|HMHA1_uc002lrb.1_Missense_Mutation_p.V454I|HMHA1_uc002lrc.1_Missense_Mutation_p.V206I|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	571					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		TAGGTCCCCCGTCATGCGTGC	0.657													A	1080261	G	A	1080261	3	1	264	1	0	0	0	0	1	0	0	0	7240	1145	40	1	1765	1	HMHA1	19	1080261	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	36480	1080261	58048722	1495	131013											
HMHA1	23526	broad.mit.edu	37	chr19	1085954	1085954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccatgaggctccgtggCgggcggatgacactgggctc	15	15	0	2	rs140144151		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1085954C>T	uc002lqz.1	+	23	3591	c.3360C>T	c.(3358-3360)GGC>GGT	p.G1120G	HMHA1_uc010xgd.1_Silent_p.G1136G|HMHA1_uc010xge.1_Silent_p.G988G|HMHA1_uc002lra.1_Silent_p.G960G|HMHA1_uc002lrb.1_Silent_p.G1003G|HMHA1_uc002lrc.1_Silent_p.G755G|HMHA1_uc002lrd.1_Silent_p.G196G|HMHA1_uc010dsd.1_Silent_p.G226G	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	1120					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		GGCTCCGTGGCGGGCGGATGA	0.662													T	1085954	C	T	1085954	2	4	264	1	0	0	0	0	0	0	0	1	7240	755	27	1		1	HMHA1	19	1085954	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5693	1085954	58043029	1496	131014											
APC2	10297	broad.mit.edu	37	chr19	1461988	1461988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgaagagcgtgctgagCgccctgtggaatctgtctgc	13	12	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1461988C>T	uc002lsr.1	+	14	1873	c.1665C>T	c.(1663-1665)AGC>AGT	p.S555S	APC2_uc002lss.1_Silent_p.S137S|APC2_uc002lst.1_Silent_p.S555S|APC2_uc002lsu.1_Silent_p.S554S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	555	ARM 3.				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)|pancreas(1)	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)		GCGTGCTGAGCGCCCTGTGGA	0.647													T	1461988	C	T	1461988	2	4	264	1	0	0	0	0	0	0	0	1	764	767	27	1		1	APC2	19	1461988	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	376034	1461988	57666995	1497	131015											
MEX3D	399664	broad.mit.edu	37	chr19	1556729	1556729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgggcgggccctgggcGgcgccgggcagacccccggc	20	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1556729G>A	uc010dsn.2	-	2	789	c.789C>T	c.(787-789)GCC>GCT	p.A263A		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	263					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			lung(1)	1		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)		GGCCCTGGGCGGCGCCGGGCA	0.711													A	1556729	G	A	1556729	2	1	264	1	0	0	0	0	0	0	0	1	9512	1103	39	1		1	MEX3D	19	1556729	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	94741	1556729	57572254	1498	131016											
PIP5K1C	23396	broad.mit.edu	37	chr19	3633467	3633467	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcggaggccgggggggCctgggcgctatagtggagcg	22	10	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:3633467C>G	uc002lyj.1	-	17	2029	c.1972G>C	c.(1972-1974)GCC>CCC	p.A658P	PIP5K1C_uc010xhq.1_Intron	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	658	Mediates interaction with TLN2.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		GCCGGGGGGGCCTGGGCGCTA	0.706													G	3633467	C	G	3633467	3	3	264	1	0	0	0	0	1	0	0	0	11941	739	26	5	42	5	PIP5K1C	19	3633467	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2076738	3633467	55495516	1499	131017											
ZNRF4	148066	broad.mit.edu	37	chr19	5456475	5456475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcgaccaactcaagatcCtgccctgctcccacacctac	7	18	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:5456475C>A	uc002mca.3	+	1	1050	c.973C>A	c.(973-975)CTG>ATG	p.L325M		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	325	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACTCAAGATCCTGCCCTGCTC	0.627													A	5456475	C	A	5456475	3	1	264	1	0	0	0	0	1	0	0	0	18211	680	24	5	975	5	ZNRF4	19	5456475	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1823008	5456475	53672508	1500	131018											
C19orf70	125988	broad.mit.edu	37	chr19	5679654	5679655	+	Frame_Shift_Ins	INS	-	-	G													ggctgaactggtacatggcgINSggggggaccacctccccagc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:5679653_5679654C>CG	uc002mch.1	-	1	564_565	c.150_151G>CG	c.(148-153)cccgccfs	p.P50fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	50							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACCA	0.663													G	5679655	-	G	5679654	7	5	264	1	0	1	1	0	0	0	0	0	1947	1103	39	0	218	0	C19orf70	19	5679654	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	223179	5679654	53449329	1501	131019											
PSPN	5623	broad.mit.edu	37	chr19	6375793	6375793	+	Frame_Shift_Del	DEL	C	C	-													gaaccccacgggcatcggggCcccagccctgtcccagctgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:6375792_6375792GC>G	uc010xja.2	-	0	69	c.69_69GC>C	c.(67-69)ggcfs	p.G23fs		NM_004158	NP_004149	O60542	PSPN_HUMAN	Homo sapiens persephin (PSPN), mRNA.	23					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						GGGCATCGGGGCCCCAGCCCT	0.652													-	6375793	C	-	6375793	7	5	264	1	0	1	0	1	0	0	0	0	12718	739	26	0	409	0	PSPN	19	6375793	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	696139	6375793	52753190	1502	131020											
C3	718	broad.mit.edu	37	chr19	6697683	6697683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagctcttggttctgccGgtaattgtagagaacggctc	12	9	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:6697683G>A	uc002mfm.2	-	20	2625	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	855					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGTTCTGCCGGTAATTGTAG	0.572													A	6697683	G	A	6697683	3	1	264	1	0	0	0	0	1	0	0	0	2204	1115	39	1	2516	1	C3	19	6697683	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	321890	6697683	52431300	1503	131021											
PNPLA6	10908	broad.mit.edu	37	chr19	7616251	7616251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccaacgcccccaggtcGtgacccgccttatccaccta	7	20	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:7616251G>A	uc010xjq.1	+	20	2410	c.2215G>A	c.(2215-2217)GTG>ATG	p.V739M	PNPLA6_uc002mgq.1_Missense_Mutation_p.V691M|PNPLA6_uc010xjp.1_Missense_Mutation_p.V665M|PNPLA6_uc002mgr.1_Missense_Mutation_p.V691M|PNPLA6_uc002mgs.2_Missense_Mutation_p.V730M	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	730	Cytoplasmic (Potential).|cNMP 3.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CCCCCAGGTCGTGACCCGCCT	0.632													A	7616251	G	A	7616251	3	1	264	1	0	0	0	0	1	0	0	0	12169	1145	40	1	2289	1	PNPLA6	19	7616251	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	918568	7616251	51512732	1504	131022											
RETN	56729	broad.mit.edu	37	chr19	7735136	7735136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctgcacttgtggctcCgcctgtggctcgtgggatgt	15	12	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:7735136C>T	uc002mhf.1	+	4	274	c.228C>T	c.(226-228)TCC>TCT	p.S76S	RETN_uc002mhg.1_Silent_p.S76S|RETN_uc010dvm.1_RNA	NM_020415	NP_065148	Q9HD89	RETN_HUMAN	resistin	76							hormone activity			ovary(1)	1						CTTGTGGCTCCGCCTGTGGCT	0.602													T	7735136	C	T	7735136	2	4	264	1	0	0	0	0	0	0	0	1	13236	639	23	1		1	RETN	19	7735136	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	118885	7735136	51393847	1505	131023											
FCER2	2208	broad.mit.edu	37	chr19	7754212	7754212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtcgcacacccaggcgCccagcttacggtcgcagaag	13	16	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:7754212C>T	uc002mhn.2	-	11	1017	c.833G>A	c.(832-834)GGC>GAC	p.G278D	FCER2_uc010xjs.1_Missense_Mutation_p.G200D|FCER2_uc010xjt.1_Missense_Mutation_p.G200D|FCER2_uc002mhm.2_Missense_Mutation_p.G278D	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	278	C-type lectin.|Extracellular (Potential).				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0						CACCCAGGCGCCCAGCTTACG	0.697													T	7754212	C	T	7754212	3	4	264	1	0	0	0	0	1	0	0	0	5776	739	26	2	136	2	FCER2	19	7754212	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	19076	7754212	51374771	1506	131024											
MUC16	94025	broad.mit.edu	37	chr19	9015691	9015691	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcatgtcctcctcgtacTtcaggttggtgatggtgaag	12	8	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9015691T>G	uc002mkp.2	-	29	38336	c.38132A>C	c.(38131-38133)AAG>ACG	p.K12711T	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCCTCGTACTTCAGGTTGGT	0.512													G	9015691	T	G	9015691	3	3	264	1	0	0	0	0	1	0	0	0	9973	1609	56	5	5615	5	MUC16	19	9015691	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1261479	9015691	50113292	1507	131025											
OR7G2	390882	broad.mit.edu	37	chr19	9213230	9213230	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtgctttccacttgcTgatggcattctcaaaacaca	7	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9213230T>C	uc010xkk.1	-	1	753	c.753A>G	c.(751-753)TCA>TCG	p.S251S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTCCACTTGCTGATGGCATTC	0.453													C	9213230	T	C	9213230	2	2	264	1	0	0	0	0	0	0	0	1	11223	1567	55	3		3	OR7G2	19	9213230	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	197539	9213230	49915753	1508	131026											
FBXL12	54850	broad.mit.edu	37	chr19	9922074	9922074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacggaaggcggggacgCggtccagcacgatgcattca	15	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9922074C>T	uc002mme.2	-	3	721	c.479G>A	c.(478-480)CGC>CAC	p.R160H	FBXL12_uc002mmd.2_Missense_Mutation_p.R107H|FBXL12_uc002mmf.2_Missense_Mutation_p.R107H|FBXL12_uc002mmg.2_Missense_Mutation_p.R107H|FBXL12_uc002mmh.2_Missense_Mutation_p.R107H	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	160							protein binding			lung(1)|kidney(1)	2						GGCGGGGACGCGGTCCAGCAC	0.672													T	9922074	C	T	9922074	3	4	264	1	0	0	0	0	1	0	0	0	5708	768	27	1	505	1	FBXL12	19	9922074	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	708844	9922074	49206909	1509	131027											
OLFM2	93145	broad.mit.edu	37	chr19	9965426	9965426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaccacgtggcccgtgccCgcccacggctggggcagcag	14	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9965426C>T	uc002mmp.2	-	6	829	c.801G>A	c.(799-801)GCG>GCA	p.A267A	OLFM2_uc002mmo.2_Silent_p.A189A	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	267	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						GGCCCGTGCCCGCCCACGGCT	0.587													T	9965426	C	T	9965426	2	4	264	1	0	0	0	0	0	0	0	1	10853	639	23	1		1	OLFM2	19	9965426	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	43352	9965426	49163557	1510	131028											
EIF3G	8666	broad.mit.edu	37	chr19	10227521	10227521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtagacaggcccagctgctCggccagctccttctgcatgg	12	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10227521C>T	uc002mnd.2	-	7	614	c.550G>A	c.(550-552)GAG>AAG	p.E184K		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	184						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCCAGCTGCTCGGCCAGCTCC	0.662													T	10227521	C	T	10227521	3	4	264	1	0	0	0	0	1	0	0	0	5017	893	31	1	432	1	EIF3G	19	10227521	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	262095	10227521	48901462	1511	131029											
ICAM5	7087	broad.mit.edu	37	chr19	10401749	10401749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgtttccctgggcagcGgtctcgcaggagcccttctg	13	16	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10401749G>A	uc002mnu.3	+	2	149	c.84G>A	c.(82-84)GCG>GCA	p.A28A	ICAM5_uc002mnv.3_5'Flank	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	28					cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTGGGCAGCGGTCTCGCAGG	0.677													A	10401749	G	A	10401749	2	1	264	1	0	0	0	0	0	0	0	1	7483	1130	39	1		1	ICAM5	19	10401749	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	174228	10401749	48727234	1512	131030											
TYK2	7297	broad.mit.edu	37	chr19	10463110	10463110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgggcctggctctcacCgtgggggggctctggctgga	19	12	2	0	rs140324156		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10463110C>T	uc002moc.3	-	23	3696	c.3318G>A	c.(3316-3318)ACG>ACA	p.T1106T	TYK2_uc010dxe.2_Silent_p.T921T	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	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			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCTCTCACCGTGGGGGGGC	0.468													T	10463110	C	T	10463110	2	4	264	1	0	0	0	0	0	0	0	1	16807	666	23	1		1	TYK2	19	10463110	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	61361	10463110	48665873	1513	131031											
ATG4D	84971	broad.mit.edu	37	chr19	10655661	10655662	+	Frame_Shift_Del	DEL	TG	TG	-													cagcgtttccagcgggacttTgtgtcccgcctgtggctcac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10655660_10655661TTG>T	uc002mov.3	+	2	467_468	c.347_348TTG>T	c.(346-348)tttfs	p.F116fs	ATG4D_uc010xlg.2_Frame_Shift_Del_p.F139fs|ATG4D_uc010xlh.2_Frame_Shift_Del_p.F53fs|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	116					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.D115G(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)			CAGCGGGACTTTGTGTCCCGCC	0.673													-	10655662	TG	-	10655661	7	5	264	1	0	1	0	1	0	0	0	0	1099	1809	63	0	358	0	ATG4D	19	10655661	Frame_Shift_Del	DEL	TG	TCGA-HU-A4G8-01A-11D-A25D-08	192551	10655661	48473322	1514	131032											
ATG4D	84971	broad.mit.edu	37	chr19	10662902	10662902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccactgcacctcgcccCgcaagatggcctttgccaag	8	18	0	1	rs150808873		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10662902C>T	uc002mov.2	+	9	1264	c.1144C>T	c.(1144-1146)CGC>TGC	p.R382C	ATG4D_uc010xlh.1_Missense_Mutation_p.R319C|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.R49C	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	382					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCTCGCCCCGCAAGATGGC	0.622													T	10662902	C	T	10662902	3	4	264	1	0	0	0	0	1	0	0	0	1099	652	23	1	1178	1	ATG4D	19	10662902	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	7241	10662902	48466081	1515	131033											
ILF3	3609	broad.mit.edu	37	chr19	10792683	10792683	+	Frame_Shift_Del	DEL	C	C	-													ctgtagaggagaaggcagagCccccccaggctatgaatgcc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10792682_10792682GC>G	uc002mpn.3	+	11	1511	c.1194_1194GC>G	c.(1192-1194)gagfs	p.E398fs	ILF3_uc010xli.1_5'UTR|ILF3_uc002mpm.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpl.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpk.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpo.3_Frame_Shift_Del_p.E398fs|ILF3_uc002mpp.3_Frame_Shift_Del_p.E219fs	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	398	DRBM 1.				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.Q401fs*39(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)			AGAAGGCAGAGCCCCCCCAGG	0.607													-	10792683	C	-	10792683	7	5	264	1	0	1	0	1	0	0	0	0	7712	739	26	0	1237	0	ILF3	19	10792683	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	129781	10792683	48336300	1516	131034											
DNM2	1785	broad.mit.edu	37	chr19	10893768	10893768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccgaccgcatgggcaCgccacatctgcagaagacgc	12	15	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10893768C>T	uc002mps.1	+	6	985	c.821C>T	c.(820-822)ACG>ATG	p.T274M	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.T274M|DNM2_uc002mpv.1_Missense_Mutation_p.T274M|DNM2_uc002mpu.1_Missense_Mutation_p.T274M|DNM2_uc010dxl.1_Missense_Mutation_p.T274M|DNM2_uc002mpw.2_Missense_Mutation_p.T7M	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	274					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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGCATGGGCACGCCACATCTG	0.577													T	10893768	C	T	10893768	3	4	264	1	0	0	0	0	1	0	0	0	4672	536	19	1	843	1	DNM2	19	10893768	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	101085	10893768	48235215	1517	131035											
DNM2	1785	broad.mit.edu	37	chr19	10940882	10940883	+	Frame_Shift_Ins	INS	-	-	C													gaggggccccactccagggcINScccccctgattcctgttccc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10940881_10940882G>GC	uc002mpt.2	+	19	2560_2561	c.2370_2371G>GC	c.(2368-2373)gggcccfs	p.G790fs	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Ins_p.G790fs|DNM2_uc010dxl.2_Frame_Shift_Ins_p.G790fs|DNM2_uc002mpu.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpv.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpw.3_Frame_Shift_Ins_p.G519fs|DNM2_uc002mpx.1_Frame_Shift_Ins_p.G146fs	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	790	Pro-rich.				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	Golgi membrane|cell junction|cytosol|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)			CCACTCCAGGGCCCCCCCTGAT	0.693			"F, N, Splice, Mis, O"		ETP ALL								C	10940883	-	C	10940882	7	5	264	1	0	1	1	0	0	0	0	0	4672	739	26	0	2592	0	DNM2	19	10940882	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	47114	10940882	48188101	1518	131036											
SMARCA4	6597	broad.mit.edu	37	chr19	11144498	11144498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgcccacactgcccctcCgccagcgggcgtcaaccccg	9	22	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:11144498C>T	uc002mqf.3	+	27	4114	c.3830C>T	c.(3829-3831)CCG>CTG	p.P1277L	SMARCA4_uc010dxp.2_Missense_Mutation_p.P1277L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P1277L|SMARCA4_uc010dxq.2_Intron|SMARCA4_uc010dxr.2_Intron|SMARCA4_uc002mqj.3_Intron|SMARCA4_uc010dxs.2_Intron|SMARCA4_uc010dxt.1_Intron|SMARCA4_uc002mqh.3_Intron|SMARCA4_uc002mqi.1_Intron	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1277					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			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				actgcccctccgccagcgggc	0			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11144498	C	T	11144498	3	4	264	1	0	0	0	0	1	0	0	0	14770	652	23	1	3932	1	SMARCA4	19	11144498	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	203616	11144498	47984485	1519	131037											
ZNF878	729747	broad.mit.edu	37	chr19	12155504	12155505	+	Frame_Shift_Ins	INS	-	-	A													ctttttaacgaactgggagaINSaaaaaaggctttcccacata							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:12155503_12155504G>GA	uc021upl.1	-	3	878_879	c.712_713C>TC	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Ins_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					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						CGAACTGGGAGAAAAAAAGGCT	0.391													A	12155505	-	A	12155504	7	5	264	1	0	1	1	0	0	0	0	0	18193	246	9	0	887	0	ZNF878	19	12155504	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1011006	12155504	46973479	1520	131038											
ZNF709	163051	broad.mit.edu	37	chr19	12575800	12575800	+	Frame_Shift_Del	DEL	T	T	-													aaactgaaggctttcccacaTtttttacatttatagggttt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:12575799_12575799AT>A	uc002mtv.4	-	3	1098	c.937_937AT>T	c.(937-939)tgtfs	p.C313fs	ZNF709_uc002mtw.4_Frame_Shift_Del_p.C281fs|ZNF709_uc002mtx.4_Frame_Shift_Del_p.C313fs	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GCTTTCCCACATTTTTTACAT	0.373													-	12575800	T	-	12575800	7	5	264	1	0	1	0	1	0	0	0	0	18110	1490	52	0	993	0	ZNF709	19	12575800	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	420296	12575800	46553183	1521	131039											
BEST2	54831	broad.mit.edu	37	chr19	12866266	12866266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgtacccctcgtgtacaCgcaggtaaccccatcatgcc	8	16	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:12866266C>T	uc002mux.2	+	5	710	c.710C>T	c.(709-711)ACG>ATG	p.T237M		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	237					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						CTCGTGTACACGCAGGTAACC	0.498													T	12866266	C	T	12866266	3	4	264	1	0	0	0	0	1	0	0	0	1405	536	19	1	728	1	BEST2	19	12866266	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	290466	12866266	46262717	1522	131040											
CD97	976	broad.mit.edu	37	chr19	14508025	14508025	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaatggcccaaacaatacCgtctgtgaaggtcgagagct	10	12	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14508025C>A	uc002myl.2	+	6	738	c.615C>A	c.(613-615)ACC>ACA	p.T205T	CD97_uc002mym.2_Intron|CD97_uc002myn.2_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	205	Extracellular (Potential).|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			ovary(3)|breast(1)	4						CAAACAATACCGTCTGTGAAG	0.582													A	14508025	C	A	14508025	2	1	264	1	0	0	0	0	0	0	0	1	3049	639	23	5		5	CD97	19	14508025	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1641759	14508025	44620958	1523	131041											
CLEC17A	388512	broad.mit.edu	37	chr19	14705584	14705584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctaggcctggacctcgcCgctgtcacctgtccacctcc	8	19	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14705584C>T	uc010dzn.1	+	7	452	c.375C>T	c.(373-375)GCC>GCT	p.A125A	CLEC17A_uc002mzh.1_Silent_p.A108A|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Silent_p.A125A|CLEC17A_uc010dzo.1_Silent_p.A125A			Q6ZS10	CL17A_HUMAN	SubName: Full=CLEC17A protein;	125	Cytoplasmic (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0						TGGACCTCGCCGCTGTCACCT	0.517													T	14705584	C	T	14705584	2	4	264	1	0	0	0	0	0	0	0	1	3501	639	23	1		1	CLEC17A	19	14705584	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	197559	14705584	44423399	1524	131042											
OR7C1	26664	broad.mit.edu	37	chr19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-													caggacttcaagtagatcacAaaaaaagtgtggaatttcca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14910413_14910413CA>C	uc010xnz.2	-	0	536	c.536_536TG>G	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTG	0.478													-	14910414	A	-	14910414	7	5	264	1	0	1	0	1	0	0	0	0	11217	130	5	0	429	0	OR7C1	19	14910414	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	204830	14910414	44218569	1525	131043											
OR7A10	390892	broad.mit.edu	37	chr19	14952157	14952157	+	Frame_Shift_Del	DEL	A	A	-													ccacctgattaatttcacagAaaaaatgagggatttccatg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14952156_14952156GA>G	uc002mzx.1	-	0	534	c.534_534TC>C	c.(532-534)ttcfs	p.F178fs		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TAATTTCACAGAAAAAATGAG	0.448													-	14952157	A	-	14952157	7	5	264	1	0	1	0	1	0	0	0	0	11214	246	9	0	400	0	OR7A10	19	14952157	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	41743	14952157	44176826	1526	131044											
NOTCH3	4854	broad.mit.edu	37	chr19	15289695	15289695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctaggacggcactggCctccatgctggcatggctgg	16	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:15289695C>T	uc002nan.2	-	23	3852	c.3776G>A	c.(3775-3777)GGC>GAC	p.G1259D	NOTCH3_uc002nao.1_Missense_Mutation_p.G1207D	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1259	Extracellular (Potential).|EGF-like 32.				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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGGCACTGGCCTCCATGCTG	0.647													T	15289695	C	T	15289695	3	4	264	1	0	0	0	0	1	0	0	0	10550	739	26	2	3233	2	NOTCH3	19	15289695	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	337538	15289695	43839288	1527	131045											
BRD4	23476	broad.mit.edu	37	chr19	15383773	15383773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttggaggtctctgggggCggggggttggtgctggctgc	24	6	1	0	rs139655217		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:15383773C>T	uc002nar.2	-	2	360	c.138G>A	c.(136-138)CCG>CCA	p.P46P	BRD4_uc002nas.2_Silent_p.P46P|BRD4_uc002nat.3_Silent_p.P46P|BRD4_uc002nau.3_Silent_p.P46P	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	46					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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTCTGGGGGCGGGGGGTTGG	0.562			T	NUT|C15orf55	lethal midline carcinoma of young people								T	15383773	C	T	15383773	2	4	264	1	0	0	0	0	0	0	0	1	1504	755	27	1		1	BRD4	19	15383773	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	94078	15383773	43745210	1528	131046											
CHERP	10523	broad.mit.edu	37	chr19	16632444	16632444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctttagggtccaaagGcttgtactcgtgatcttcca	10	9	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:16632444G>A	uc002nei.1	-	12	2076	c.2002C>T	c.(2002-2004)CCT>TCT	p.P668S	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.P207S	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	668	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GGGTCCAAAGGCTTGTACTCG	0.647													A	16632444	G	A	16632444	3	1	264	1	0	0	0	0	1	0	0	0	3336	1203	42	2	772	2	CHERP	19	16632444	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1248671	16632444	42496539	1529	131047											
MED26	9441	broad.mit.edu	37	chr19	16687474	16687474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttctttttactgtcCgagccccctgaggaggcagc	9	14	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:16687474C>T	uc002nen.1	-	3	1428	c.1167G>A	c.(1165-1167)TCG>TCA	p.S389S	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	389					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			ovary(2)	2						TTTTACTGTCCGAGCCCCCTG	0.617													T	16687474	C	T	16687474	2	4	264	1	0	0	0	0	0	0	0	1	9444	639	23	1		1	MED26	19	16687474	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	55030	16687474	42441509	1530	131048											
CPAMD8	27151	broad.mit.edu	37	chr19	17038989	17038989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggacctctggtggcctcGggagggtccaggccacaatg	15	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:17038989G>A	uc002nfb.2	-	25	3373	c.3341C>T	c.(3340-3342)CCG>CTG	p.P1114L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1067						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGGTGGCCTCGGGAGGGTCCA	0.582													A	17038989	G	A	17038989	3	1	264	1	0	0	0	0	1	0	0	0	3795	1116	39	1	2529	1	CPAMD8	19	17038989	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	351515	17038989	42089994	1531	131049											
MYO9B	4650	broad.mit.edu	37	chr19	17313032	17313032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggccagaaggacaccAacctggtcctcaacctcttc	9	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:17313032A>G	uc010eak.2	+	28	4908	c.4756A>G	c.(4756-4758)AAC>GAC	p.N1586D	MYO9B_uc002nfi.2_Missense_Mutation_p.N1586D|MYO9B_uc002nfj.1_Missense_Mutation_p.N1586D|MYO9B_uc002nfl.1_Missense_Mutation_p.N135D	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1586	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(1)	1						GAAGGACACCAACCTGGTCCT	0.547													G	17313032	A	G	17313032	3	3	264	1	0	0	0	0	1	0	0	0	10085	130	5	3	4862	3	MYO9B	19	17313032	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	274043	17313032	41815951	1532	131050											
PLVAP	83483	broad.mit.edu	37	chr19	17476389	17476389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttctcgcgggccacgcgTtcgatatccgcccggaggct	14	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:17476389T>C	uc002ngk.1	-	3	935	c.885A>G	c.(883-885)GAA>GAG	p.E295E		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	295	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GGGCCACGCGTTCGATATCCG	0.657													C	17476389	T	C	17476389	2	2	264	1	0	0	0	0	0	0	0	1	12116	1722	60	3		3	PLVAP	19	17476389	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	163357	17476389	41652594	1533	131051											
MAST3	23031	broad.mit.edu	37	chr19	18249863	18249863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccatctgggctccgaggacGacgagaccaatgatgaagaa	13	10	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:18249863G>A	uc002nhz.3	+	19	2047	c.2047G>A	c.(2047-2049)GAC>AAC	p.D683N		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	683	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						CTCCGAGGACGACGAGACCAA	0.622													A	18249863	G	A	18249863	3	1	264	1	0	0	0	0	1	0	0	0	9326	1058	37	1	2121	1	MAST3	19	18249863	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	773474	18249863	40879120	1534	131052											
KLHL26	55295	broad.mit.edu	37	chr19	18778859	18778859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgcagagcaaccggCtgcagagctgtgccgagatc	12	13	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:18778859C>T	uc002njz.1	+	3	679	c.652C>T	c.(652-654)CTG>TTG	p.L218L		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	218	BACK.									ovary(1)	1						GAGCAACCGGCTGCAGAGCTG	0.572													T	18778859	C	T	18778859	2	4	264	1	0	0	0	0	0	0	0	1	8381	796	28	2		2	KLHL26	19	18778859	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	528996	18778859	40350124	1535	131053											
ARMC6	93436	broad.mit.edu	37	chr19	19154850	19154850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctaaagtctctgcagaCggatcccaggagcccacaca	9	15	1	1	rs151260905	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:19154850C>T	uc002nld.2	+	4	594	c.246C>T	c.(244-246)GAC>GAT	p.D82D	ARMC6_uc002nlc.2_Silent_p.D57D|ARMC6_uc010xql.1_Intron|ARMC6_uc002nle.2_Silent_p.D57D|ARMC6_uc010xqm.1_Silent_p.D82D	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	82							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TCTCTGCAGACGGATCCCAGG	0.567													T	19154850	C	T	19154850	2	4	264	1	0	0	0	0	0	0	0	1	955	535	19	1		1	ARMC6	19	19154850	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	375991	19154850	39974133	1536	131054											
ZNF429	353088	broad.mit.edu	37	chr19	21719281	21719281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgacacttacccagagCaaaatgtatcactgtgatat	7	8	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:21719281C>T	uc002nqd.1	+	4	563	c.426C>T	c.(424-426)AGC>AGT	p.S142S	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTACCCAGAGCAAAATGTATC	0.323													T	21719281	C	T	21719281	2	4	264	1	0	0	0	0	0	0	0	1	17899	709	25	2		2	ZNF429	19	21719281	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2564431	21719281	37409702	1537	131055											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	264	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	282745	22002026	37126957	1538	131056											
ZNF536	9745	broad.mit.edu	37	chr19	30935279	30935279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggacgcggtggccccGgcggcgggcttccgctgtac	18	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:30935279G>A	uc002nsu.1	+	2	948	c.810G>A	c.(808-810)CCG>CCA	p.P270P	ZNF536_uc010edd.1_Silent_p.P270P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGGTGGCCCCGGCGGCGGGCT	0.677													A	30935279	G	A	30935279	2	1	264	1	0	0	0	0	0	0	0	1	17971	1103	39	1		1	ZNF536	19	30935279	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8933253	30935279	28193704	1539	131057											
ZNF536	9745	broad.mit.edu	37	chr19	31038892	31038892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgtgactatgccggcaCgcagtcagcatccttaaaat	9	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:31038892C>T	uc002nsu.1	+	4	2504	c.2366C>T	c.(2365-2367)ACG>ATG	p.T789M	ZNF536_uc010edd.1_Missense_Mutation_p.T789M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	789	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TATGCCGGCACGCAGTCAGCA	0.502													T	31038892	C	T	31038892	3	4	264	1	0	0	0	0	1	0	0	0	17971	536	19	1	2376	1	ZNF536	19	31038892	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	103613	31038892	28090091	1540	131058											
TSHZ3	57616	broad.mit.edu	37	chr19	31770574	31770574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggcacatgtacttggccGagggctctccatctgccgta	12	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:31770574G>A	uc002nsy.3	-	2	190	c.125C>T	c.(124-126)TCG>TTG	p.S42L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	42					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GTACTTGGCCGAGGGCTCTCC	0.592													A	31770574	G	A	31770574	3	1	264	1	0	0	0	0	1	0	0	0	16622	1059	37	1	3124	1	TSHZ3	19	31770574	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	731682	31770574	27358409	1541	131059											
RHPN2	85415	broad.mit.edu	37	chr19	33471104	33471104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcatcatcaatggctAagcagatcatggagtacgtt	10	8	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:33471104A>G	uc002nuf.2	-	15	1925	c.1859T>C	c.(1858-1860)TTA>TCA	p.L620S	RHPN2_uc010xro.1_Missense_Mutation_p.L469S|RHPN2_uc002nue.2_Missense_Mutation_p.L350S	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	620					signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					ATCAATGGCTAAGCAGATCAT	0.438													G	33471104	A	G	33471104	3	3	264	1	0	0	0	0	1	0	0	0	13351	372	13	3	205	3	RHPN2	19	33471104	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1700530	33471104	25657879	1542	131060											
CHST8	64377	broad.mit.edu	37	chr19	34263256	34263256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgtatcttcgtggaggAccgccaccgcgtgctctact	11	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:34263256A>G	uc002nus.3	+	5	1068	c.563A>G	c.(562-564)GAC>GGC	p.D188G	CHST8_uc002nut.3_Missense_Mutation_p.D188G|CHST8_uc002nuu.2_Missense_Mutation_p.D188G	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	188	Lumenal (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TTCGTGGAGGACCGCCACCGC	0.706													G	34263256	A	G	34263256	3	3	264	1	0	0	0	0	1	0	0	0	3410	275	10	3	573	3	CHST8	19	34263256	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	792152	34263256	24865727	1543	131061											
LGI4	163175	broad.mit.edu	37	chr19	35625539	35625539	+	Frame_Shift_Del	DEL	C	C	-													gggtctccaggccaccaccaCccccgccccagccagcagca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:35625539delC	uc002nxx.2	-	1	640	c.46delG	c.(46-48)GTGfs	p.V16fs	LGI4_uc002nxy.1_Intron|LGI4_uc002nxz.1_5'Flank|LGI4_uc002nya.2_Frame_Shift_Del_p.V16fs	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	16						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-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)			GCCACCACCACCCCCGCCCCA	0.697													-	35625539	C	-	35625539	7	5	264	1	0	1	0	1	0	0	0	0	8754	507	18	0	1603	0	LGI4	19	35625539	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1362283	35625539	23503444	1544	131062											
KRTDAP	388533	broad.mit.edu	37	chr19	35979354	35979354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactcacctcaaagagggCgtgccagttcaggaactcat	10	12	4	1	rs141811528		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:35979354C>T	uc002nzh.2	-	4	214	c.202G>A	c.(202-204)GCC>ACC	p.A68T		NM_207392	NP_997275	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	68					cell differentiation	extracellular region					0	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)			TCAAAGAGGGCGTGCCAGTTC	0.582													T	35979354	C	T	35979354	3	4	264	1	0	0	0	0	1	0	0	0	8580	768	27	1	109	1	KRTDAP	19	35979354	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	353815	35979354	23149629	1545	131063											
WDR62	284403	broad.mit.edu	37	chr19	36594611	36594611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcaaccacgaggcccGggccaacctgagactgaccc	13	16	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:36594611G>A	uc002odc.2	+	30	3957	c.3866G>A	c.(3865-3867)CGG>CAG	p.R1289Q	WDR62_uc002odd.2_Missense_Mutation_p.R1294Q	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1289	WD 15.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGAGGCCCGGGCCAACCTG	0.652													A	36594611	G	A	36594611	3	1	264	1	0	0	0	0	1	0	0	0	17310	1116	39	1	3999	1	WDR62	19	36594611	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	615257	36594611	22534372	1546	131064											
TBCB	1155	broad.mit.edu	37	chr19	36612466	36612466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcgcagcaagctcggCcggtacaacgaggaggagcg	16	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:36612466C>T	uc002odg.1	+	4	968	c.393C>T	c.(391-393)GGC>GGT	p.G131G	TBCB_uc002odh.1_Silent_p.G112G	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	131					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCAAGCTCGGCCGGTACAACG	0.701													T	36612466	C	T	36612466	2	4	264	1	0	0	0	0	0	0	0	1	15627	726	26	2		2	TBCB	19	36612466	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	17855	36612466	22516517	1547	131065											
ZNF529	57711	broad.mit.edu	37	chr19	37038564	37038564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtatggattttctgatgtCgagtaagttgtgcatgcact	11	6	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:37038564C>T	uc002oeh.3	-	5	1098	c.896G>A	c.(895-897)CGA>CAA	p.R299Q	ZNF529_uc010xth.1_Missense_Mutation_p.R299Q|ZNF529_uc010xti.1_Missense_Mutation_p.R281Q|ZNF529_uc002oeg.3_Missense_Mutation_p.R194Q	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	266	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TTTCTGATGTCGAGTAAGTTG	0.383													T	37038564	C	T	37038564	3	4	264	1	0	0	0	0	1	0	0	0	17967	884	31	1	799	1	ZNF529	19	37038564	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	426098	37038564	22090419	1548	131066											
ZNF567	163081	broad.mit.edu	37	chr19	37210793	37210793	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagagaatccatacaggTgagaaaccctacatttgtaa	7	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:37210793T>C	uc010xtl.1	+	6	1389	c.1167T>C	c.(1165-1167)GGT>GGC	p.G389G	ZNF567_uc002oeo.1_Silent_p.G389G|ZNF567_uc010xtk.1_Silent_p.G389G|ZNF567_uc002oep.3_Silent_p.G358G|ZNF567_uc002oeq.1_Silent_p.G358G	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCATACAGGTGAGAAACCCT	0.433													C	37210793	T	C	37210793	2	2	264	1	0	0	0	0	0	0	0	1	17995	1683	59	3		3	ZNF567	19	37210793	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	172229	37210793	21918190	1549	131067											
ZNF568	374900	broad.mit.edu	37	chr19	37413725	37413725	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgacaatggagcgttTgagccacatgatggaaagga	14	6	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:37413725T>G	uc002ofc.2	+	3	568	c.53T>G	c.(52-54)TTG>TGG	p.L18W	ZNF568_uc010efg.2_Missense_Mutation_p.L4W|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Intron|ZNF568_uc010efe.2_Intron|ZNF568_uc010eff.1_Missense_Mutation_p.L4W	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGGAGCGTTTGAGCCACATG	0.478													G	37413725	T	G	37413725	3	3	264	1	0	0	0	0	1	0	0	0	17996	1821	63	5	55	5	ZNF568	19	37413725	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	202932	37413725	21715258	1550	131068											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590668	38590668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaagcatgggaccgggCggggcctgcccttgaaggat	15	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:38590668C>T	uc002ohk.2	+	5	2241	c.1732C>T	c.(1732-1734)CGG>TGG	p.R578W		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	578					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGACCGGGCGGGGCCTGCC	0.627													T	38590668	C	T	38590668	3	4	264	1	0	0	0	0	1	0	0	0	14331	759	27	1	1742	1	SIPA1L3	19	38590668	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1176943	38590668	20538315	1551	131069											
GGN	199720	broad.mit.edu	37	chr19	38876364	38876364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagccgcgggtgcgggcGcggacacaggcggcgagggc	22	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:38876364G>A	uc002oij.1	-	3	1673	c.1538C>T	c.(1537-1539)GCG>GTG	p.A513V	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A430V	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	513	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gggtgcgggcgcggacacagg	0.249													A	38876364	G	A	38876364	3	1	264	1	0	0	0	0	1	0	0	0	6358	1087	38	1	428	1	GGN	19	38876364	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	285696	38876364	20252619	1552	131070											
ACTN4	81	broad.mit.edu	37	chr19	39214837	39214837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttcaagtccaccctgcCggacgccgatagggagcgcg	13	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:39214837C>T	uc002oja.1	+	15	1792	c.1733C>T	c.(1732-1734)CCG>CTG	p.P578L	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	578	Spectrin 3.				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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCACCCTGCCGGACGCCGAT	0.647													T	39214837	C	T	39214837	3	4	264	1	0	0	0	0	1	0	0	0	207	652	23	1	1791	1	ACTN4	19	39214837	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	338473	39214837	19914146	1553	131071											
SUPT5H	6829	broad.mit.edu	37	chr19	39963908	39963908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgtatggctcccagaCgcccatgtatggctctggct	11	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:39963908C>T	uc002olo.3	+	24	2503	c.2324C>T	c.(2323-2325)ACG>ATG	p.T775M	SUPT5H_uc002olp.3_Missense_Mutation_p.T775M|SUPT5H_uc002olq.3_Missense_Mutation_p.T771M|SUPT5H_uc002oln.3_Missense_Mutation_p.T775M|SUPT5H_uc002olr.3_Missense_Mutation_p.T775M|SUPT5H_uc002ols.1_Missense_Mutation_p.T398M|SUPT5H_uc010egp.1_Silent_p.D140D	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	775	CTR1-4.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTCCCAGACGCCCATGTAT	0.657													T	39963908	C	T	39963908	3	4	264	1	0	0	0	0	1	0	0	0	15396	536	19	1	2414	1	SUPT5H	19	39963908	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	749071	39963908	19165075	1554	131072											
DYRK1B	9149	broad.mit.edu	37	chr19	40317449	40317449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaagccgtgctgcagaGcccccagggggctgatgcgg	18	11	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40317449G>A	uc002omj.2	-	9	1554	c.1274C>T	c.(1273-1275)GCT>GTT	p.A425V	DYRK1B_uc002omi.2_Missense_Mutation_p.A397V|DYRK1B_uc002omk.2_Missense_Mutation_p.A385V	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	425	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			GTGCTGCAGAGCCCCCAGGGG	0.697													A	40317449	G	A	40317449	3	1	264	1	0	0	0	0	1	0	0	0	4855	971	34	2	627	2	DYRK1B	19	40317449	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	353541	40317449	18811534	1555	131073											
FCGBP	8857	broad.mit.edu	37	chr19	40366367	40366367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcccacagccttgaggtCgtctgcggggtcctggttgt	14	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40366367C>T	uc002omp.3	-	30	13875	c.13867G>A	c.(13867-13869)GAC>AAC	p.D4623N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4623	VWFD 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			GCCTTGAGGTCGTCTGCGGGG	0.697													T	40366367	C	T	40366367	3	4	264	1	0	0	0	0	1	0	0	0	5778	884	31	1	2378	1	FCGBP	19	40366367	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	48918	40366367	18762616	1556	131074											
FCGBP	8857	broad.mit.edu	37	chr19	40398355	40398355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagccacagagagagccCgcgtacgccgccggcacgcg	13	16	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40398355C>T	uc002omp.3	-	14	6620	c.6612G>A	c.(6610-6612)GCG>GCA	p.A2204A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2204	VWFD 5.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			AGAGAGAGCCCGCGTACGCCG	0.706													T	40398355	C	T	40398355	2	4	264	1	0	0	0	0	0	0	0	1	5778	639	23	1		1	FCGBP	19	40398355	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	31988	40398355	18730628	1557	131075											
FCGBP	8857	broad.mit.edu	37	chr19	40421324	40421324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catagtgtgggtccccggacCcctggcaggtcccgaagcga	14	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40421324C>A	uc002omp.3	-	5	2605	c.2597G>T	c.(2596-2598)GGG>GTG	p.G866V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	866	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			GTCCCCGGACCCCTGGCAGGT	0.687													A	40421324	C	A	40421324	3	1	264	1	0	0	0	0	1	0	0	0	5778	623	22	5	13748	5	FCGBP	19	40421324	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	22969	40421324	18707659	1558	131076											
PSMC4	5704	broad.mit.edu	37	chr19	40480308	40480308	+	Frame_Shift_Del	DEL	C	C	-													atgcactggtggacgtgctgCcccccgaagccgacagcagc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40480307_40480307GC>G	uc002omq.3	+	3	466	c.429_429GC>G	c.(427-429)ctgfs	p.L143fs	PSMC4_uc002omr.3_Frame_Shift_Del_p.L112fs	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	143					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGACGTGCTGCCCCCCGAAG	0.622													-	40480308	C	-	40480308	7	5	264	1	0	1	0	1	0	0	0	0	12689	739	26	0	444	0	PSMC4	19	40480308	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	58984	40480308	18648675	1559	131077											
BLVRB	645	broad.mit.edu	37	chr19	40953837	40953837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtgctgtgtccgtcgtActcatcggtggtgaggcagc	16	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40953837A>G	uc002onw.2	-	5	710	c.580T>C	c.(580-582)TAC>CAC	p.Y194H	BLVRB_uc010egw.1_RNA	NM_000713	NP_000704	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase	194					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	TGTCCGTCGTACTCATCGGTG	0.602													G	40953837	A	G	40953837	3	3	264	1	0	0	0	0	1	0	0	0	1452	391	14	3	44	3	BLVRB	19	40953837	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	473529	40953837	18175146	1560	131078											
CIC	23152	broad.mit.edu	37	chr19	42791355	42791355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccccccaggagagcccCggctggacagtgagacagag	15	15	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:42791355C>T	uc002otf.1	+	3	455	c.415C>T	c.(415-417)CGG>TGG	p.R139W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AGGAGAGCCCCGGCTGGACAG	0.667			T	DUX4	soft tissue sarcoma								T	42791355	C	T	42791355	3	4	264	1	0	0	0	0	1	0	0	0	3424	643	23	1	425	1	CIC	19	42791355	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1837518	42791355	16337628	1561	131079											
LIPE	3991	broad.mit.edu	37	chr19	42930555	42930555	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggccaccattccacccatCgtggctggagaatctgtgtc	11	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:42930555C>T	uc002otr.2	-	1	1024	c.747G>A	c.(745-747)ACG>ACA	p.T249T	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	249					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TTCCACCCATCGTGGCTGGAG	0.493													T	42930555	C	T	42930555	2	4	264	1	0	0	0	0	0	0	0	1	8821	871	31	1		1	LIPE	19	42930555	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	139200	42930555	16198428	1562	131080											
IRGC	56269	broad.mit.edu	37	chr19	44223311	44223311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagaccactgtgccgagCggctgcgggaggccggcgtg	18	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:44223311C>T	uc002oxh.2	+	2	748	c.601C>T	c.(601-603)CGG>TGG	p.R201W		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	201						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CTGTGCCGAGCGGCTGCGGGA	0.697													T	44223311	C	T	44223311	3	4	264	1	0	0	0	0	1	0	0	0	7838	759	27	1	603	1	IRGC	19	44223311	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1292756	44223311	14905672	1563	131081											
ZNF227	7770	broad.mit.edu	37	chr19	44740715	44740715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatcagagggtccacaCgggagagaaaccccatatat	9	12	2	2	rs140684974		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:44740715C>T	uc002oyu.2	+	6	2337	c.2132C>T	c.(2131-2133)ACG>ATG	p.T711M	ZNF227_uc010xwu.1_Missense_Mutation_p.T660M|ZNF227_uc002oyv.2_Missense_Mutation_p.T711M|ZNF227_uc010xwv.1_Missense_Mutation_p.T660M|ZNF227_uc010xww.1_Missense_Mutation_p.T632M|ZNF227_uc002oyw.2_Missense_Mutation_p.T683M|ZNF227_uc010ejh.2_Missense_Mutation_p.T704M|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				AGGGTCCACACGGGAGAGAAA	0.493													T	44740715	C	T	44740715	3	4	264	1	0	0	0	0	1	0	0	0	17778	536	19	1	2146	1	ZNF227	19	44740715	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	517404	44740715	14388268	1564	131082											
ZNF229	7772	broad.mit.edu	37	chr19	44946745	44946745	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaaagaaaacaacccAcctgagacatgatcttctcc	7	11	2	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:44946745A>G	uc002oze.1	-	4	527	c.93_splice	c.e4+1	p.Q31_splice	ZNF229_uc010ejk.1_Splice_Site|ZNF229_uc010ejl.1_Splice_Site_p.Q31_splice	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				AAAACAACCCACCTGAGACAT	0.463													G	44946745	A	G	44946745	5	3	264	1	0	0	0	0	0	0	1	0	17779	173	6	3	2394	3	ZNF229	19	44946745	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	206030	44946745	14182238	1565	131083											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895270	45895270	+	Frame_Shift_Del	DEL	C	C	-													ggggacagctctggctccggCcccccgggccctggcccccc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:45895269_45895269GC>G	uc002pbn.3	-	7	1761	c.1684_1684GC>C	c.(1684-1686)ccgfs	p.P562fs	PPP1R13L_uc002pbm.3_Frame_Shift_Del_p.P141fs|PPP1R13L_uc002pbo.3_Frame_Shift_Del_p.P562fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	562	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)		TCTGGCTCCGGCCCCCCGGGC	0.701													-	45895270	C	-	45895270	7	5	264	1	0	1	0	1	0	0	0	0	12358	726	26	0	827	0	PPP1R13L	19	45895270	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	948525	45895270	13233713	1566	131084											
STRN4	29888	broad.mit.edu	37	chr19	47236438	47236438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcccagcagggaacggaCgcgcttggaccgcatgtcga	16	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47236438C>T	uc002pfl.2	-	5	628	c.595G>A	c.(595-597)GTC>ATC	p.V199I	STRN4_uc002pfm.2_Missense_Mutation_p.V199I|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	199						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		AGGGAACGGACGCGCTTGGAC	0.677													T	47236438	C	T	47236438	3	4	264	1	0	0	0	0	1	0	0	0	15330	536	19	1	1739	1	STRN4	19	47236438	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1341168	47236438	11892545	1567	131085											
ZC3H4	23211	broad.mit.edu	37	chr19	47570052	47570052	+	Frame_Shift_Del	DEL	C	C	-													cagccggctctgtggctttgCcccccgcgttgggagtcctc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47570052delC	uc002pga.3	-	15	3511	c.3473delG	c.(3472-3474)GGCfs	p.G1158fs	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1158							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		TGTGGCTTTGCCCCCCGCGTT	0.697													-	47570052	C	-	47570052	7	5	264	1	0	1	0	1	0	0	0	0	17567	739	26	0	442	0	ZC3H4	19	47570052	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	333614	47570052	11558931	1568	131086											
DHX34	9704	broad.mit.edu	37	chr19	47858522	47858522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcaaggtcatcctcatgtCggccaccatcaacatctcgc	6	17	5	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47858522C>T	uc010xyn.1	+	3	1273	c.932C>T	c.(931-933)TCG>TTG	p.S311L	DHX34_uc010elc.1_Missense_Mutation_p.S311L	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	311	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATCCTCATGTCGGCCACCATC	0.592													T	47858522	C	T	47858522	3	4	264	1	0	0	0	0	1	0	0	0	4507	893	31	1	938	1	DHX34	19	47858522	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	288470	47858522	11270461	1569	131087											
SLC8A2	6543	broad.mit.edu	37	chr19	47940742	47940742	+	Frame_Shift_Del	DEL	A	A	-													cgctcaccgtaattgcctctAaaaactgctccctccatgaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47940741_47940741TA>T	uc010ele.3	-	6	2104	c.2088_2088TA>A	c.(2086-2088)ttafs	p.L696fs	SLC8A2_uc002pgx.3_Frame_Shift_Del_p.L696fs|SLC8A2_uc010xyq.2_Frame_Shift_Del_p.L452fs|SLC8A2_uc010xyr.2_Frame_Shift_Del_p.L159fs			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	696					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)		TAATTGCCTCTAAAAACTGCT	0.512													-	47940742	A	-	47940742	7	5	264	1	0	1	0	1	0	0	0	0	14707	372	13	0	690	0	SLC8A2	19	47940742	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	82220	47940742	11188241	1570	131088											
SLC8A2	6543	broad.mit.edu	37	chr19	47951360	47951360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctcgaacatgccctgcGcgtcgcccacgcgcaggttc	12	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47951360G>A	uc002pgx.2	-	4	1747	c.1469C>T	c.(1468-1470)GCG>GTG	p.A490V	SLC8A2_uc010xyq.1_Missense_Mutation_p.A246V|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.A490V	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	490	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		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)		CATGCCCTGCGCGTCGCCCAC	0.692													A	47951360	G	A	47951360	3	1	264	1	0	0	0	0	1	0	0	0	14707	1087	38	1	1324	1	SLC8A2	19	47951360	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	10618	47951360	11177623	1571	131089											
LIG1	3978	broad.mit.edu	37	chr19	48640806	48640806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgagcctggcgatgtcGcggaacttgctgaagacccc	13	13	0	3	rs142732689		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:48640806G>A	uc002pia.1	-	13	1347	c.1227C>T	c.(1225-1227)CGC>CGT	p.R409R	LIG1_uc010xze.1_Silent_p.R102R|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.R341R|LIG1_uc010xzg.1_Silent_p.R378R|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	409					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			large_intestine(2)|lung(1)	3		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)	TGGCGATGTCGCGGAACTTGC	0.672								NER					A	48640806	G	A	48640806	2	1	264	1	0	0	0	0	0	0	0	1	8781	1074	38	1		1	LIG1	19	48640806	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	689446	48640806	10488177	1572	131090											
SPHK2	56848	broad.mit.edu	37	chr19	49129478	49129478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacacctaccctcggggcCggcgcggggcccggcgcaga	15	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49129478C>T	uc002pjr.2	+	3	736	c.370C>T	c.(370-372)CGG>TGG	p.R124W	SPHK2_uc010xzt.1_Missense_Mutation_p.R65W|SPHK2_uc002pjs.2_Missense_Mutation_p.R124W|SPHK2_uc002pjt.2_Intron|SPHK2_uc002pju.2_Missense_Mutation_p.R88W|SPHK2_uc002pjv.2_Missense_Mutation_p.R88W|SPHK2_uc002pjw.2_Missense_Mutation_p.R186W|SPHK2_uc010xzu.1_Missense_Mutation_p.R88W	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	124	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			lung(1)	1		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)		CCCTcggggccggcgcggggc	0.592													T	49129478	C	T	49129478	3	4	264	1	0	0	0	0	1	0	0	0	15046	643	23	1	376	1	SPHK2	19	49129478	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	488672	49129478	9999505	1573	131091											
FUT1	2523	broad.mit.edu	37	chr19	49253765	49253765	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgccgttgctggtgaccacGaaaacgggggcttcgtgccg	15	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49253765G>A	uc002pkk.2	-	4	1749	c.774C>T	c.(772-774)TTC>TTT	p.F258F		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	258	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTGACCACGAAAACGGGGG	0.617													A	49253765	G	A	49253765	2	1	264	1	0	0	0	0	0	0	0	1	6101	1049	37	1		1	FUT1	19	49253765	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	124287	49253765	9875218	1574	131092											
PLEKHA4	57664	broad.mit.edu	37	chr19	49362884	49362884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcacctccgggggaccAccggggccgccggggccctc	15	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49362884A>G	uc002pkx.2	-	7	1085	c.534T>C	c.(532-534)GGT>GGC	p.G178G	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Silent_p.G178G	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	178	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		CCGGGGGACCACCGGGGCCGC	0.637													G	49362884	A	G	49362884	2	3	264	1	0	0	0	0	0	0	0	1	12058	146	6	3		3	PLEKHA4	19	49362884	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	109119	49362884	9766099	1575	131093											
FLT3LG	2323	broad.mit.edu	37	chr19	49983624	49983624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccgacagccccgcagcCccctctgctcctcctactgc	7	23	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49983624C>T	uc010yau.1	+	7	641	c.551C>T	c.(550-552)CCC>CTC	p.P184L	FLT3LG_uc002pnv.2_Missense_Mutation_p.P102L|FLT3LG_uc002pnw.2_Missense_Mutation_p.P102L|FLT3LG_uc002pnu.2_Missense_Mutation_p.P184L|FLT3LG_uc002pnx.2_Missense_Mutation_p.P184L|FLT3LG_uc010yav.1_Missense_Mutation_p.P102L	NM_001459	NP_001450	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand precursor	184	Extracellular (Potential).				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity				0		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)		GCCCCGCAGCCCCCTCTGCTC	0.662													T	49983624	C	T	49983624	3	4	264	1	0	0	0	0	1	0	0	0	5943	623	22	4	573	4	FLT3LG	19	49983624	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	620740	49983624	9145359	1576	131094											
FCGRT	2217	broad.mit.edu	37	chr19	50027778	50027778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagagcccccctccatgCgcctgaaggcccgacccagc	10	20	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50027778C>T	uc002poe.2	+	5	1102	c.616C>T	c.(616-618)CGC>TGC	p.R206C	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.R206C|FCGRT_uc002pof.1_Missense_Mutation_p.R111C|FCGRT_uc010yax.1_Silent_p.C234C|FCGRT_uc002poh.1_Missense_Mutation_p.R66C|FCGRT_uc002poi.2_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	206	Extracellular (Potential).|Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CCCCTCCATGCGCCTGAAGGC	0.627													T	50027778	C	T	50027778	3	4	264	1	0	0	0	0	1	0	0	0	5786	768	27	1	630	1	FCGRT	19	50027778	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	44154	50027778	9101205	1577	131095											
PRR12	57479	broad.mit.edu	37	chr19	50098868	50098868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggtgggccagcagccGcctatgccactgggaaggcc	16	14	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50098868G>A	uc002poo.3	+	4	1276	c.1276G>A	c.(1276-1278)GCC>ACC	p.A426T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCAGCAGCCGCCTATGCCAC	0.697													A	50098868	G	A	50098868	3	1	264	1	0	0	0	0	1	0	0	0	12584	1087	38	1	1290	1	PRR12	19	50098868	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	71090	50098868	9030115	1578	131096											
PRR12	57479	broad.mit.edu	37	chr19	50099984	50099985	+	Frame_Shift_Ins	INS	-	-	C													actggtgctgcctccgcctcINSccccccagctgctcccctcg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50099983_50099984T>TC	uc002poo.4	+	3	2391_2392	c.2391_2392T>TC	c.(2389-2394)cctcccfs	p.P797fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	488							DNA binding	p.Q800fs*26(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGCCTCCGCCTCCCCCCCAGCT	0.723													C	50099985	-	C	50099984	7	5	264	1	0	1	1	0	0	0	0	0	12584	855	30	0	2406	0	PRR12	19	50099984	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1116	50099984	9028999	1579	131097											
PRMT1	3276	broad.mit.edu	37	chr19	50183169	50183169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgggatgagcctccagcCgcctcttgaagaagtaaata	10	9	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50183169C>T	uc010enf.1	+	2	119	c.77C>T	c.(76-78)CCG>CTG	p.P26L	PRMT1_uc002ppc.1_Intron|PRMT1_uc002ppd.2_5'UTR|PRMT1_uc002ppe.2_Intron|PRMT1_uc002ppf.2_Intron|PRMT1_uc002ppg.2_Intron|PRMT1_uc010yba.1_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						cytoplasm	protein methyltransferase activity			ovary(1)	1		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		AGCCTCCAGCCGCCTCTTGAA	0.502													T	50183169	C	T	50183169	3	4	264	1	0	0	0	0	1	0	0	0	12535	652	23	1	83	1	PRMT1	19	50183169	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	83185	50183169	8945814	1580	131098											
TSKS	60385	broad.mit.edu	37	chr19	50243410	50243410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagggcctctgccctgaCgtgtttggctaaggcctggc	14	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50243410C>T	uc002ppm.2	-	10	1539	c.1528G>A	c.(1528-1530)GTC>ATC	p.V510I		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	510							protein binding			large_intestine(1)|skin(1)	2		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)		TCTGCCCTGACGTGTTTGGCT	0.647													T	50243410	C	T	50243410	3	4	264	1	0	0	0	0	1	0	0	0	16623	536	19	1	258	1	TSKS	19	50243410	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	60241	50243410	8885573	1581	131099											
AP2A1	160	broad.mit.edu	37	chr19	50303257	50303257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcctggccgagaagtaCgccgtggactacagctggta	13	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50303257C>T	uc002ppn.2	+	11	1516	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.Y435Y|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	435					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			ovary(2)	2		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)		CCGAGAAGTACGCCGTGGACT	0.617													T	50303257	C	T	50303257	2	4	264	1	0	0	0	0	0	0	0	1	739	547	19	1		1	AP2A1	19	50303257	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	59847	50303257	8825726	1582	131100											
PNKP	11284	broad.mit.edu	37	chr19	50365981	50365981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccccgatggatatgggCgtgccgtcgttggcctacgg	15	12	0	0	rs148491228	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50365981C>T	uc002pqh.2	-	8	883	c.831G>A	c.(829-831)ACG>ACA	p.T277T	PNKP_uc002pqg.2_Silent_p.T58T|PNKP_uc002pqi.2_Silent_p.T238T|PNKP_uc002pqj.2_Silent_p.T277T|PNKP_uc010enm.2_Silent_p.T277T|PNKP_uc002pqk.2_Silent_p.T277T	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	277					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			ovary(1)|kidney(1)	2		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)		TGGATATGGGCGTGCCGTCGT	0.672								Other_BER_factors					T	50365981	C	T	50365981	2	4	264	1	0	0	0	0	0	0	0	1	12147	755	27	1		1	PNKP	19	50365981	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	62724	50365981	8763002	1583	131101											
MYBPC2	4606	broad.mit.edu	37	chr19	50949190	50949190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttcaaggcccggtaccGcttcaagaaggacgggaagc	12	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50949190G>A	uc002psf.2	+	12	1238	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	396	Ig-like C2-type 3.				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)		GCCCGGTACCGCTTCAAGAAG	0.567													A	50949190	G	A	50949190	3	1	264	1	0	0	0	0	1	0	0	0	10012	1087	38	1	1233	1	MYBPC2	19	50949190	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	583209	50949190	8179793	1584	131102											
MYBPC2	4606	broad.mit.edu	37	chr19	50957558	50957558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggctgtgcgcatcacctCggttggagaggattgggcca	17	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50957558C>T	uc002psf.2	+	18	1997	c.1946C>T	c.(1945-1947)TCG>TTG	p.S649L		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	649	Fibronectin type-III 1.				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)		CGCATCACCTCGGTTGGAGAG	0.647													T	50957558	C	T	50957558	3	4	264	1	0	0	0	0	1	0	0	0	10012	893	31	1	2016	1	MYBPC2	19	50957558	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	8368	50957558	8171425	1585	131103											
LRRC4B	94030	broad.mit.edu	37	chr19	51021575	51021575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggccgcccccgccgctGccggtgcccccggccgccac	13	24	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:51021575G>A	uc002pss.2	-	3	1532	c.1395C>T	c.(1393-1395)GGC>GGT	p.G465G		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	465	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ccccgccgctgccggtgcccc	0.408													A	51021575	G	A	51021575	2	1	264	1	0	0	0	0	0	0	0	1	9007	1306	46	2		2	LRRC4B	19	51021575	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	64017	51021575	8107408	1586	131104											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919202	51919202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagccaagcctgttctccGctcggcaggtgtagcgccct	14	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:51919202G>A	uc002pwo.2	-	5	1590	c.974C>T	c.(973-975)GCG>GTG	p.A325V	SIGLEC10_uc002pwp.2_Missense_Mutation_p.A267V|SIGLEC10_uc002pwq.2_Missense_Mutation_p.A267V|SIGLEC10_uc002pwr.2_Missense_Mutation_p.A325V|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Missense_Mutation_p.A277V|SIGLEC10_uc010eow.2_Missense_Mutation_p.A137V|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	325	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTGTTCTCCGCTCGGCAGGT	0.662													A	51919202	G	A	51919202	3	1	264	1	0	0	0	0	1	0	0	0	14306	1087	38	1	1147	1	SIGLEC10	19	51919202	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	897627	51919202	7209781	1587	131105											
ZNF649	65251	broad.mit.edu	37	chr19	52394795	52394795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctttcctgtatgaatTctcttatgctcagtgagctg	9	8	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52394795T>G	uc002pxy.2	-	5	862	c.594A>C	c.(592-594)AGA>AGC	p.R198S	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	198	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGTATGAATTCTCTTATGCT	0.458													G	52394795	T	G	52394795	3	3	264	1	0	0	0	0	1	0	0	0	18061	1780	62	5	927	5	ZNF649	19	52394795	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	475593	52394795	6734188	1588	131106											
ZNF615	284370	broad.mit.edu	37	chr19	52496837	52496837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgatgcacaataaggcGgctcttcacagtgaagcctt	10	11	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52496837G>T	uc002pye.1	-	6	1784	c.1492C>A	c.(1492-1494)CGC>AGC	p.R498S	ZNF615_uc002pyf.1_Missense_Mutation_p.R509S|ZNF615_uc002pyg.1_Missense_Mutation_p.R390S|ZNF615_uc002pyh.1_Missense_Mutation_p.R509S|ZNF615_uc010epi.1_Missense_Mutation_p.R505S|ZNF615_uc010ydg.1_Missense_Mutation_p.R503S	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	498	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACAATAAGGCGGCTCTTCACA	0.443													T	52496837	G	T	52496837	3	4	264	1	0	0	0	0	1	0	0	0	18037	1116	39	5	707	5	ZNF615	19	52496837	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	102042	52496837	6632146	1589	131107											
PPP2R1A	5518	broad.mit.edu	37	chr19	52716018	52716018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggggagtttgccaagGtgctggagctggacaacgtc	17	8	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52716018G>A	uc002pyp.2	+	5	742	c.583G>A	c.(583-585)GTG>ATG	p.V195M	PPP2R1A_uc010ydk.1_Missense_Mutation_p.V140M|PPP2R1A_uc010epm.1_Missense_Mutation_p.V235M|PPP2R1A_uc002pyq.2_Missense_Mutation_p.V16M	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	195	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens 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			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GTTTGCCAAGGTGCTGGAGCT	0.617			Mis		clear cell ovarian carcinoma								A	52716018	G	A	52716018	3	1	264	1	0	0	0	0	1	0	0	0	12382	1261	44	4	601	4	PPP2R1A	19	52716018	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	219181	52716018	6412965	1590	131108											
ZNF766	90321	broad.mit.edu	37	chr19	52794058	52794058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagaatttagtggGcattcaagcctcaccaccca	9	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52794058G>A	uc002pyr.1	+	4	1057	c.1014G>A	c.(1012-1014)GGG>GGA	p.G338G	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Silent_p.G353G	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	338	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AATTTAGTGGGCATTCAAGCC	0.393													A	52794058	G	A	52794058	2	1	264	1	0	0	0	0	0	0	0	1	18137	1190	42	2		2	ZNF766	19	52794058	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	78040	52794058	6334925	1591	131109											
ZNF534	147658	broad.mit.edu	37	chr19	52954604	52954604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtttctgcttcgcttggcGatgcaaaacgcgcgaggctc	12	13	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52954604G>A	uc002pzj.1	+	5	561	c.436G>A	c.(436-438)GAT>AAT	p.D146N	ZNF534_uc010epo.1_Missense_Mutation_p.D103N|ZNF578_uc002pzm.2_5'Flank|ZNF578_uc002pzn.2_5'Flank|ZNF578_uc002pzp.3_5'Flank|ZNF578_uc002pzo.1_5'Flank|ZNF578_uc010epp.1_5'Flank			Q76KX8	ZN534_HUMAN	SubName: Full=Putative uncharacterized protein;	Error:Variant_position_missing_in_Q76KX8_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCGCTTGGCGATGCAAAACG	0.687													A	52954604	G	A	52954604	3	1	264	1	0	0	0	0	1	0	0	0	17970	1073	37	1		1	ZNF534	19	52954604	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	160546	52954604	6174379	1592	131110											
ZNF808	388558	broad.mit.edu	37	chr19	53056441	53056442	+	Frame_Shift_Del	DEL	AA	AA	-													gatccacacagggacattgcAaagacatcaaagttatcaca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:53056440_53056441CAA>C	uc010epq.1	+	4	448_449	c.271_272CAA>C	c.(271-273)caafs	p.Q91fs	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	91	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)		AGGGACATTGCAAAGACATCAA	0.376													-	53056442	AA	-	53056441	7	5	264	1	0	1	0	1	0	0	0	0	18170	130	5	0	282	0	ZNF808	19	53056441	Frame_Shift_Del	DEL	AA	TCGA-HU-A4G8-01A-11D-A25D-08	101837	53056441	6072542	1593	131111											
LILRB3	11025	broad.mit.edu	37	chr19	54725110	54725110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggctgctggccagggCgctggaggaagtcacgttcc	17	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:54725110C>T	uc002qef.1	-	5	911	c.800G>A	c.(799-801)CGC>CAC	p.R267H	LILRB3_uc002qee.1_Missense_Mutation_p.R267H|LILRB3_uc002qeh.1_Missense_Mutation_p.R267H|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.R267H|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.R267H|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Missense_Mutation_p.R267H|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Missense_Mutation_p.R267H|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	267	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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)		CTGGCCAGGGCGCTGGAGGAA	0.637													T	54725110	C	T	54725110	3	4	264	1	0	0	0	0	1	0	0	0	8792	768	27	1	1134	1	LILRB3	19	54725110	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1668669	54725110	4403873	1594	131112											
LILRB3	11025	broad.mit.edu	37	chr19	54745900	54745900	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccagagtgtcctctcAcctgtcatcaccagctccag	8	17	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:54745900A>G	uc010erh.1	-	3	479	c.355_splice	c.e3+1	p.G119_splice	LILRB3_uc002qeh.1_Splice_Site_p.G119_splice|LILRB3_uc002qeg.1_Splice_Site|LILRB3_uc002qei.1_Splice_Site_p.G119_splice|LILRA6_uc002qek.1_Splice_Site_p.G119_splice|LILRB3_uc002qej.1_Splice_Site|LILRA6_uc002qel.1_Splice_Site_p.G119_splice|LILRA6_uc002qem.1_Splice_Site|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Splice_Site_p.G119_splice|LILRB3_uc002qep.1_Splice_Site_p.G119_splice|LILRB3_uc002qeq.1_Splice_Site_p.G119_splice|LILRB3_uc002qer.1_Splice_Site|LILRB3_uc002qes.1_Splice_Site_p.G119_splice|LILRA6_uc010yep.1_Splice_Site_p.G119_splice|LILRA6_uc010yeq.1_Splice_Site_p.G119_splice|LILRA6_uc002qet.3_Splice_Site|LILRA6_uc002qeu.1_Splice_Site_p.G119_splice|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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)		GTGTCCTCTCACCTGTCATCA	0.637													G	54745900	A	G	54745900	5	3	264	1	0	0	0	0	0	0	1	0	8792	173	6	3		3	LILRB3	19	54745900	Splice_Site	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	20790	54745900	4383083	1595	131113											
NLRP2	55655	broad.mit.edu	37	chr19	55512184	55512184	+	Frame_Shift_Del	DEL	A	A	-													gctgctggaagaaatagaagAaaaaaacccacaactgatta							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55512183_55512183GA>G	uc021vbq.1	+	12	3217	c.3106_3106GA>G	c.(3106-3108)gaafs	p.E1036fs	NLRP2_uc010yfp.2_Frame_Shift_Del_p.E1013fs|NLRP2_uc002qij.3_Frame_Shift_Del_p.E1036fs|NLRP2_uc010esp.3_Frame_Shift_Del_p.E1014fs|NLRP2_uc010esn.3_Frame_Shift_Del_p.E1012fs|NLRP2_uc010eso.3_Frame_Shift_Del_p.E1033fs	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	1036					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)		AGAAATAGAAGAAAAAAACCC	0.413													-	55512184	A	-	55512184	7	5	264	1	0	1	0	1	0	0	0	0	10477	246	9	0	3153	0	NLRP2	19	55512184	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	766284	55512184	3616799	1596	131114											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-													ccctcatcctcgtcctggatGgggggccccccagccccacc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55607455_55607455TG>T	uc002qix.3	-	7	1133	c.1117_1117CA>A	c.(1117-1119)atcfs	p.I373fs	PPP1R12C_uc010yfs.2_Frame_Shift_Del_p.I299fs|PPP1R12C_uc002qiy.3_Frame_Shift_Del_p.I373fs|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	373						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)		TCGTCCTGGATGGGGGGCCCC	0.642													-	55607456	G	-	55607456	7	5	264	1	0	1	0	1	0	0	0	0	12356	1335	47	0	1292	0	PPP1R12C	19	55607456	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	95272	55607456	3521527	1597	131115											
TNNT1	7138	broad.mit.edu	37	chr19	55656925	55656925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcaccttggtttggggcGttcctcttctgttggtggtg	13	9	3	0	rs139279150	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55656925G>A	uc002qjb.3	-	6	204	c.115C>T	c.(115-117)CGC>TGC	p.R39C	TNNT1_uc002qiz.3_Translation_Start_Site|TNNT1_uc002qja.3_Translation_Start_Site|TNNT1_uc002qjc.3_Missense_Mutation_p.R39C|TNNT1_uc002qje.3_Missense_Mutation_p.R28C|TNNT1_uc002qjd.3_Missense_Mutation_p.R28C|TNNT1_uc002qjf.2_Missense_Mutation_p.R35C	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	39					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGTTTGGGGCGTTCCTCTTCT	0.542													A	55656925	G	A	55656925	3	1	264	1	0	0	0	0	1	0	0	0	16327	1145	40	1	757	1	TNNT1	19	55656925	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	49469	55656925	3472058	1598	131116											
TNNI3	7137	broad.mit.edu	37	chr19	55665463	55665463	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccagggactccttagcccGggcccccagcagcgcctgca	12	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55665463G>T	uc002qjg.3	-	7	484	c.484C>A	c.(484-486)CGG>AGG	p.R162R	TNNI3_uc010yft.1_Silent_p.R154R	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	162			R -> Q (in CMH7).|R -> P (in CMH7).		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			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCTTAGCCCGGGCCCCCAGC	0.602													T	55665463	G	T	55665463	2	4	264	1	0	0	0	0	0	0	0	1	16325	1115	39	5		5	TNNI3	19	55665463	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	8538	55665463	3463520	1599	131117											
C19orf51	352909	broad.mit.edu	37	chr19	55677303	55677303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatccacagagcccagaaGcagcacatctagctcggggt	10	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55677303G>T	uc002qji.1	-	3	185	c.151C>A	c.(151-153)CTT>ATT	p.L51I	C19orf51_uc002qjj.1_Missense_Mutation_p.L98I|C19orf51_uc002qjk.1_5'UTR|C19orf51_uc002qjl.1_Missense_Mutation_p.L119I			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	51											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAGCCCAGAAGCAGCACATCT	0.617											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	55677303	G	T	55677303	3	4	264	1	0	0	0	0	1	0	0	0	1933	971	34	5	1514	5	C19orf51	19	55677303	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	11840	55677303	3451680	1600	131118											
NLRP4	147945	broad.mit.edu	37	chr19	56369147	56369147	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaggaggaagtcaagcaaGaagaatgtgaccatttggac	13	5	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56369147G>T	uc002qmd.3	+	3	810	c.388G>T	c.(388-390)GAA>TAA	p.E130*	NLRP4_uc002qmf.2_Nonsense_Mutation_p.E55*|NLRP4_uc010etf.2_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	130							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGTCAAGCAAGAAGAATGTGA	0.463													T	56369147	G	T	56369147	4	4	264	1	0	0	0	0	0	1	0	0	10479	943	33	5	394	5	NLRP4	19	56369147	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	691844	56369147	2759836	1601	131119											
ZNF787	126208	broad.mit.edu	37	chr19	56600281	56600281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccgctcgccggtgtgcGtgcgctggtgccgcgtcagc	18	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56600281G>A	uc010eth.1	-	3	379	c.260C>T	c.(259-261)ACG>ATG	p.T87M		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	87	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCGGTGTGCGTGCGCTGGTG	0.542													A	56600281	G	A	56600281	3	1	264	1	0	0	0	0	1	0	0	0	18156	1145	40	1	895	1	ZNF787	19	56600281	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	231134	56600281	2528702	1602	131120											
ZNF667	63934	broad.mit.edu	37	chr19	56953519	56953519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccacatttattatatTtatgtgttttctttccattg	3	9	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56953519T>C	uc002qnd.2	-	5	1007	c.845A>G	c.(844-846)AAA>AGA	p.K282R	ZNF667_uc010etl.2_Missense_Mutation_p.K64R|ZNF667_uc002qne.2_Missense_Mutation_p.K282R|ZNF667_uc010etm.2_Missense_Mutation_p.K225R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	282	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTATTATATTTATGTGTTTT	0.368													C	56953519	T	C	56953519	3	2	264	1	0	0	0	0	1	0	0	0	18071	1841	64	3	991	3	ZNF667	19	56953519	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	353238	56953519	2175464	1603	131121											
ZNF667	63934	broad.mit.edu	37	chr19	56969605	56969605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgatcacatttggtctccGaaaggaaagacctgtacgtg	12	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56969605G>A	uc002qnd.2	-	4	334	c.172C>T	c.(172-174)CGG>TGG	p.R58W	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.R58W|ZNF667_uc010etm.2_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTGGTCTCCGAAAGGAAAGA	0.498													A	56969605	G	A	56969605	3	1	264	1	0	0	0	0	1	0	0	0	18071	1057	37	1	1668	1	ZNF667	19	56969605	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	16086	56969605	2159378	1604	131122											
ZNF835	90485	broad.mit.edu	37	chr19	57175988	57175988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagtcggcgcagcggtgCggcttctcgcccgtgtgcgt	16	15	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57175988C>T	uc010ygo.1	-	2	645	c.645G>A	c.(643-645)CCG>CCA	p.P215P	ZNF835_uc010ygn.1_Silent_p.P193P	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CGCAGCGGTGCGGCTTCTCGC	0.726													T	57175988	C	T	57175988	2	4	264	1	0	0	0	0	0	0	0	1	18183	755	27	1		1	ZNF835	19	57175988	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	206383	57175988	1952995	1605	131123											
PEG3	5178	broad.mit.edu	37	chr19	57328919	57328919	+	Frame_Shift_Del	DEL	T	T	-													atcccccgccggtgggttgaTtttttggcttcaggcatagt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57328918_57328918AT>A	uc002qnu.2	-	6	1243	c.892_892AT>T	c.(892-894)tcafs	p.S298fs	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.S269fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.S298fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.S174fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.S172fs|PEG3_uc010etr.2_Frame_Shift_Del_p.S298fs	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	298					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)		CGGTGGGTTGATTTTTTGGCT	0.468													-	57328919	T	-	57328919	7	5	264	1	0	1	0	1	0	0	0	0	11720	1490	52	0	3879	0	PEG3	19	57328919	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	152931	57328919	1800064	1606	131124											
DUXA	503835	broad.mit.edu	37	chr19	57670628	57670628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatccgtgcctagctcTtcgattctgaaaccaaatct	7	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57670628T>C	uc002qoa.1	-	3	244	c.199A>G	c.(199-201)AGA>GGA	p.R67G		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	67	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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;0.0123)		TGCCTAGCTCTTCGATTCTGA	0.418													C	57670628	T	C	57670628	3	2	264	1	0	0	0	0	1	0	0	0	4834	1617	56	3	431	3	DUXA	19	57670628	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	341709	57670628	1458355	1607	131125											
AURKC	6795	broad.mit.edu	37	chr19	57743929	57743929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccccaatatcctgcgcCtgtataactatttccatgat	5	13	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57743929C>T	uc002qoe.2	+	4	505	c.316C>T	c.(316-318)CTG>TTG	p.L106L	AURKC_uc002qoc.2_Silent_p.L87L|AURKC_uc002qod.2_Silent_p.L72L|AURKC_uc010etv.2_Silent_p.L103L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	106	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		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)		TATCCTGCGCCTGTATAACTA	0.483													T	57743929	C	T	57743929	2	4	264	1	0	0	0	0	0	0	0	1	1224	680	24	4		4	AURKC	19	57743929	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	73301	57743929	1385054	1608	131126											
ZNF749	388567	broad.mit.edu	37	chr19	57955516	57955516	+	Frame_Shift_Del	DEL	T	T	-													aatgcaacaagtgtgggaagTtttttatgtataactccaaa							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57955515_57955515GT>G	uc002qoq.2	+	2	1253	c.999_999GT>G	c.(997-999)aagfs	p.K333fs		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	333					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)		AGTGTGGGAAGTTTTTTATGT	0.463													-	57955516	T	-	57955516	7	5	264	1	0	1	0	1	0	0	0	0	18128	1725	60	0	1010	0	ZNF749	19	57955516	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	211587	57955516	1173467	1609	131127											
ZNF419	79744	broad.mit.edu	37	chr19	58004734	58004734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggaaaatcctttagccGtaatgctcacctcattgaac	7	11	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:58004734G>A	uc002qov.2	+	5	1049	c.809G>A	c.(808-810)CGT>CAT	p.R270H	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.R271H|ZNF419_uc010etz.1_Missense_Mutation_p.R258H|ZNF419_uc010eua.1_Missense_Mutation_p.R257H|ZNF419_uc002qow.2_Missense_Mutation_p.R238H|ZNF419_uc010eub.1_Missense_Mutation_p.R225H|ZNF419_uc010euc.1_Missense_Mutation_p.R224H	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	270	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TCCTTTAGCCGTAATGCTCAC	0.408													A	58004734	G	A	58004734	3	1	264	1	0	0	0	0	1	0	0	0	17893	1145	40	1	830	1	ZNF419	19	58004734	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	49218	58004734	1124249	1610	131128											
ZNF606	80095	broad.mit.edu	37	chr19	58490108	58490108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcatagggtttttctccaGtatgagtcctttgatgtcta	8	7	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:58490108G>A	uc002qqw.2	-	7	2558	c.1940C>T	c.(1939-1941)ACT>ATT	p.T647I	ZNF606_uc010yhp.1_Missense_Mutation_p.T557I	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		TTTTTCTCCAGTATGAGTCCT	0.398													A	58490108	G	A	58490108	3	1	264	1	0	0	0	0	1	0	0	0	18029	1029	36	4	442	4	ZNF606	19	58490108	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	485374	58490108	638875	1611	131129											
TRIM28	10155	broad.mit.edu	37	chr19	59056411	59056411	+	Frame_Shift_Del	DEL	C	C	-													tgcctgcttagggcccgcggCccccgccgccgccaacagct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:59056411delC	uc002qtg.1	+	1	576	c.287delC	c.(286-288)GCCfs	p.A96fs	TRIM28_uc010eut.1_Frame_Shift_Del_p.A96fs	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	96	RING-type.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		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)		gggcccgcggcccccgccgcc	0.602													-	59056411	C	-	59056411	7	5	264	1	0	1	0	1	0	0	0	0	16499	739	26	0	289	0	TRIM28	19	59056411	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	566303	59056411	72572	1612	131130											
SDCBP2	27111	broad.mit.edu	37	chr20	1294128	1294128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatctggccgggcccgggGcccgagaccgctgtctgcag	15	16	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:1294128G>A	uc002wev.3	-	5	369	c.240C>T	c.(238-240)GGC>GGT	p.G80G	SDCBP2_uc002weu.3_5'UTR|SDCBP2_uc010zpq.1_Silent_p.G80G	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	80					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						CGGGCCCGGGGCCCGAGACCG	0.716													A	1294128	G	A	1294128	2	1	264	1	0	0	0	0	0	0	0	1	13956	1190	42	2		2	SDCBP2	20	1294128	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08		1294128	61731392	1613	131131											
NOP56	10528	broad.mit.edu	37	chr20	2637470	2637470	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgagaacaagttgaagagCgactgtccttctatgagact	10	8	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:2637470C>T	uc002wgh.2	+	10	1263	c.1210C>T	c.(1210-1212)CGA>TGA	p.R404*	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Nonsense_Mutation_p.R238*|NOP56_uc002wgm.1_Nonsense_Mutation_p.R151*|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	404	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						AGTTGAAGAGCGACTGTCCTT	0.507													T	2637470	C	T	2637470	4	4	264	1	0	0	0	0	0	1	0	0	10539	760	27	1	1248	1	NOP56	20	2637470	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1343342	2637470	60388050	1614	131132											
AVP	551	broad.mit.edu	37	chr20	3065237	3065237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggacatggccctcttgccGcccctcgggcagttctggaa	12	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:3065237G>A	uc002whu.2	-	1	134	c.84C>T	c.(82-84)GGC>GGT	p.G28G		NM_000490	NP_000481	P01185	NEU2_HUMAN	arginine vasopressin-neurophysin II	28					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding				0				COAD - Colon adenocarcinoma(99;0.00643)		CCCTCTTGCCGCCCCTCGGGC	0.647													A	3065237	G	A	3065237	2	1	264	1	0	0	0	0	0	0	0	1	1229	1074	38	1		1	AVP	20	3065237	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	427767	3065237	59960283	1615	131133											
ATRN	8455	broad.mit.edu	37	chr20	3565317	3565317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgttcaggctactgtAcctgtagtcattgcttggag	10	7	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:3565317A>G	uc002wim.2	+	18	3064	c.2974A>G	c.(2974-2976)ACC>GCC	p.T992A	ATRN_uc002wil.2_Missense_Mutation_p.T992A	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	992	Extracellular (Potential).|PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						AGGCTACTGTACCTGTAGTCA	0.393													G	3565317	A	G	3565317	3	3	264	1	0	0	0	0	1	0	0	0	1206	391	14	3	3044	3	ATRN	20	3565317	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	500080	3565317	59460203	1616	131134											
GPCPD1	56261	broad.mit.edu	37	chr20	5550861	5550861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcctttgaaaggtgtaCgtcaaattctacaaaggctg	9	7	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:5550861C>T	uc002wme.3	-	12	1294	c.1081G>A	c.(1081-1083)GTA>ATA	p.V361I	GPCPD1_uc002wmd.3_Missense_Mutation_p.V180I	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	361	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						GAAAGGTGTACGTCAAATTCT	0.383													T	5550861	C	T	5550861	3	4	264	1	0	0	0	0	1	0	0	0	6603	536	19	1	973	1	GPCPD1	20	5550861	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1985544	5550861	57474659	1617	131135											
FERMT1	55612	broad.mit.edu	37	chr20	6077604	6077604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaattagaaagcgccGcttctatttcatcaacctcg	5	13	3	1	rs150581071		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:6077604G>A	uc002wmr.2	-	8	1823	c.1034C>T	c.(1033-1035)GCG>GTG	p.A345V	FERMT1_uc002wmq.2_5'Flank|FERMT1_uc010gbt.2_Missense_Mutation_p.A88V|FERMT1_uc002wms.2_Missense_Mutation_p.A345V|FERMT1_uc002wmt.2_Missense_Mutation_p.A88V	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	345	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						AGAAAGCGCCGCTTCTATTTC	0.428													A	6077604	G	A	6077604	3	1	264	1	0	0	0	0	1	0	0	0	5817	1087	38	1	1031	1	FERMT1	20	6077604	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	526743	6077604	56947916	1618	131136											
PCSK2	5126	broad.mit.edu	37	chr20	17434430	17434430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtgtgggcctccggggAcggcggcagctatgacgact	16	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:17434430A>G	uc002wpm.2	+	9	1249	c.929A>G	c.(928-930)GAC>GGC	p.D310G	PCSK2_uc002wpl.2_Missense_Mutation_p.D291G|PCSK2_uc010zrm.1_Missense_Mutation_p.D275G	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	310	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCTCCGGGGACGGCGGCAGC	0.672													G	17434430	A	G	17434430	3	3	264	1	0	0	0	0	1	0	0	0	11601	275	10	3	963	3	PCSK2	20	17434430	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	11356826	17434430	45591090	1619	131137											
SNX5	27131	broad.mit.edu	37	chr20	17937628	17937628	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcactgagcgcatcaggTatgtcaatctgaagcgaggg	12	10	4	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:17937628T>C	uc002wqc.2	-	2	191	c.105A>G	c.(103-105)ATA>ATG	p.I35M	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.I35M|SNX5_uc002wqe.2_Translation_Start_Site|SNX5_uc010zrt.1_Missense_Mutation_p.I35M	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	35	PX.				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			large_intestine(1)	1						GCGCATCAGGTATGTCAATCT	0.413													C	17937628	T	C	17937628	3	2	264	1	0	0	0	0	1	0	0	0	14905	1628	57	3	1157	3	SNX5	20	17937628	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	503198	17937628	45087892	1620	131138											
NKX2-2	4821	broad.mit.edu	37	chr20	21492919	21492919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgttcgcgctcgggcGccgacaggtaccgctgctgc	15	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:21492919G>A	uc002wsi.2	-	2	821	c.464C>T	c.(463-465)GCG>GTG	p.A155V		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	155	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						GCGCTCGGGCGCCGACAGGTA	0.672													A	21492919	G	A	21492919	3	1	264	1	0	0	0	0	1	0	0	0	10450	1087	38	1	361	1	NKX2-2	20	21492919	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3555291	21492919	41532601	1621	131139											
NKX2-2	4821	broad.mit.edu	37	chr20	21492938	21492938	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgacaggtaccgctgctGccgaaagcgccgctccagct	12	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:21492938G>A	uc002wsi.2	-	2	802	c.445C>T	c.(445-447)CAG>TAG	p.Q149*		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	149	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						TACCGCTGCTGCCGAAAGCGC	0.672													A	21492938	G	A	21492938	4	1	264	1	0	0	0	0	0	1	0	0	10450	1328	46	2	380	2	NKX2-2	20	21492938	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	19	21492938	41532582	1622	131140											
TPX2	22974	broad.mit.edu	37	chr20	30381659	30381659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttccctaggaagaggaCgaaccggtagtgataaaagc	11	7	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:30381659C>T	uc002wwp.1	+	14	2216	c.1518C>T	c.(1516-1518)GAC>GAT	p.D506D	TPX2_uc010gdv.1_Silent_p.D542D	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	506					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AGGAAGAGGACGAACCGGTAG	0.438													T	30381659	C	T	30381659	2	4	264	1	0	0	0	0	0	0	0	1	16429	535	19	1		1	TPX2	20	30381659	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	8888721	30381659	32643861	1623	131141											
C20orf160	140706	broad.mit.edu	37	chr20	30602812	30602812	+	Frame_Shift_Del	DEL	C	C	-													tgcactcgatgcccctttatCcccccgactacctcatcgac							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:30602811_30602811TC>T	uc002wxf.2	+	1	148	c.135_135TC>T	c.(133-135)tatfs	p.Y45fs		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	45										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TGCCCCTTTATCCCCCCGACT	0.627													-	30602812	C	-	30602812	7	5	264	1	0	1	0	1	0	0	0	0	2093	855	30	0	142	0	C20orf160	20	30602812	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	221153	30602812	32422708	1624	131142											
HCK	3055	broad.mit.edu	37	chr20	30689165	30689165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctggagcgtggataccGgatgcctcgcccagagaact	13	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:30689165G>A	uc002wxh.2	+	13	1595	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	HCK_uc010gdy.2_Missense_Mutation_p.R454Q|HCK_uc002wxi.2_Missense_Mutation_p.R453Q	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	475	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTGGATACCGGATGCCTCGC	0.557													A	30689165	G	A	30689165	3	1	264	1	0	0	0	0	1	0	0	0	6994	1116	39	1	1480	1	HCK	20	30689165	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	86353	30689165	32336355	1625	131143											
DNMT3B	1789	broad.mit.edu	37	chr20	31375119	31375119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccatcgacctcacagaCgacacagaggacacacatgg	8	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:31375119C>T	uc002wyc.2	+	6	837	c.516C>T	c.(514-516)GAC>GAT	p.D172D	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.D172D|DNMT3B_uc002wye.2_Silent_p.D172D|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.D130D|DNMT3B_uc010zua.1_Silent_p.D96D|DNMT3B_uc002wyf.2_Silent_p.D184D	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	172	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			lung(3)|ovary(2)	5						ACCTCACAGACGACACAGAGG	0.652													T	31375119	C	T	31375119	2	4	264	1	0	0	0	0	0	0	0	1	4677	535	19	1		1	DNMT3B	20	31375119	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	685954	31375119	31650401	1626	131144											
ITCH	83737	broad.mit.edu	37	chr20	33095507	33095507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttgcttttagttttaatCgcctggacctgccaccatac	6	12	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:33095507C>T	uc010geu.1	+	26	2812	c.2620C>T	c.(2620-2622)CGC>TGC	p.R874C	ITCH_uc002xak.2_Missense_Mutation_p.R833C|ITCH_uc010zuj.1_Missense_Mutation_p.R723C	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	874	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TAGTTTTAATCGCCTGGACCT	0.363													T	33095507	C	T	33095507	3	4	264	1	0	0	0	0	1	0	0	0	7868	884	31	1	2587	1	ITCH	20	33095507	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1720388	33095507	29930013	1627	131145											
MYH7B	57644	broad.mit.edu	37	chr20	33588098	33588098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccctcctcccataggcGcaaccaccagcgagctgtgg	10	18	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:33588098G>A	uc002xbi.1	+	37	5002	c.4910G>A	c.(4909-4911)CGC>CAC	p.R1637H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1595	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCCATAGGCGCAACCACCAG	0.582													A	33588098	G	A	33588098	3	1	264	1	0	0	0	0	1	0	0	0	10040	1087	38	1	5056	1	MYH7B	20	33588098	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	492591	33588098	29437422	1628	131146											
EDEM2	55741	broad.mit.edu	37	chr20	33703692	33703692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtctcggccaggaagaaCgactccatgcggttgtccag	12	12	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:33703692C>T	uc002xbo.2	-	11	1381	c.1281G>A	c.(1279-1281)TCG>TCA	p.S427S	EDEM2_uc010zus.1_Silent_p.S206S|EDEM2_uc002xbq.2_Silent_p.S390S|EDEM2_uc010zut.1_Silent_p.S386S|EDEM2_uc002xbp.2_Silent_p.S275S|EDEM2_uc002xbn.2_Silent_p.S275S|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.S151S	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	427					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				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCAGGAAGAACGACTCCATGC	0.498													T	33703692	C	T	33703692	2	4	264	1	0	0	0	0	0	0	0	1	4912	523	19	1		1	EDEM2	20	33703692	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	115594	33703692	29321828	1629	131147											
ERGIC3	51614	broad.mit.edu	37	chr20	34144821	34144821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcgaccaaggccttccCggagtcttcgtcctctatga	11	13	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:34144821C>T	uc002xct.2	+	11	1026	c.957C>T	c.(955-957)CCC>CCT	p.P319P	ERGIC3_uc002xcs.2_Silent_p.P324P|ERGIC3_uc002xcu.2_Silent_p.P334P|ERGIC3_uc002xcv.2_Silent_p.P282P	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	319	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AAGGCCTTCCCGGAGTCTTCG	0.612													T	34144821	C	T	34144821	2	4	264	1	0	0	0	0	0	0	0	1	5225	639	23	1		1	ERGIC3	20	34144821	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	441129	34144821	28880699	1630	131148											
EPB41L1	2036	broad.mit.edu	37	chr20	34797802	34797802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggggcctgctccaccccGgatatgccccagtttgaggt	13	14	0	1	rs142392996		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:34797802G>A	uc002xfb.2	+	15	2232	c.2061G>A	c.(2059-2061)CCG>CCA	p.P687P	EPB41L1_uc002xeu.2_Silent_p.P613P|EPB41L1_uc010zvo.1_Silent_p.P687P|EPB41L1_uc002xev.2_Silent_p.P687P|EPB41L1_uc002xew.2_Silent_p.P578P|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Silent_p.P613P|EPB41L1_uc010gfq.2_Silent_p.P786P	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	687					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GCTCCACCCCGGATATGCCCC	0.657													A	34797802	G	A	34797802	2	1	264	1	0	0	0	0	0	0	0	1	5152	1103	39	1		1	EPB41L1	20	34797802	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	652981	34797802	28227718	1631	131149											
C20orf4	25980	broad.mit.edu	37	chr20	34832791	34832791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcttggtgagatcccCgctgacttcttcgtagacat	9	13	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:34832791C>T	uc002xfc.1	+	3	1023	c.930C>T	c.(928-930)CCC>CCT	p.P310P	C20orf4_uc002xfd.1_Silent_p.P310P|C20orf4_uc002xfe.1_Silent_p.P310P	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	310											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				GTGAGATCCCCGCTGACTTCT	0.527													T	34832791	C	T	34832791	2	4	264	1	0	0	0	0	0	0	0	1	2111	639	23	1		1	C20orf4	20	34832791	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	34989	34832791	28192729	1632	131150											
VSTM2L	128434	broad.mit.edu	37	chr20	36572486	36572486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcatcgacttcagcgAcggcaaggcccggcaccaca	11	17	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:36572486A>G	uc002xhk.3	+	4	700	c.446A>G	c.(445-447)GAC>GGC	p.D149G		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	149	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				GACTTCAGCGACGGCAAGGCC	0.607													G	36572486	A	G	36572486	3	3	264	1	0	0	0	0	1	0	0	0	17227	275	10	3	460	3	VSTM2L	20	36572486	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1739695	36572486	26453034	1633	131151											
SLC32A1	140679	broad.mit.edu	37	chr20	37353748	37353748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctggaacgtgaccaaCgccatccaggtaagcgcggg	15	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:37353748C>T	uc002xjc.2	+	1	644	c.381C>T	c.(379-381)AAC>AAT	p.N127N		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	127	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACGTGACCAACGCCATCCAGG	0.682													T	37353748	C	T	37353748	2	4	264	1	0	0	0	0	0	0	0	1	14565	535	19	1		1	SLC32A1	20	37353748	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	781262	37353748	25671772	1634	131152											
PLCG1	5335	broad.mit.edu	37	chr20	39792806	39792806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagttctcagatgtcctGcacaccatcaaggagcatgc	8	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:39792806G>A	uc002xjp.1	+	12	1303	c.1182G>A	c.(1180-1182)CTG>CTA	p.L394L	PLCG1_uc002xjo.1_Silent_p.L394L|PLCG1_uc010zwe.1_Silent_p.L20L|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	394	PI-PLC X-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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CAGATGTCCTGCACACCATCA	0.562													A	39792806	G	A	39792806	2	1	264	1	0	0	0	0	0	0	0	1	12035	1306	46	2		2	PLCG1	20	39792806	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2439058	39792806	23232714	1635	131153											
CHD6	84181	broad.mit.edu	37	chr20	40050403	40050403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacagagatttcctggtgcCtgggtgccagatcttttatg	11	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:40050403C>A	uc002xka.1	-	31	5050	c.4872G>T	c.(4870-4872)CAG>CAT	p.Q1624H		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1624					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTCCTGGTGCCTGGGTGCCAG	0.458													A	40050403	C	A	40050403	3	1	264	1	0	0	0	0	1	0	0	0	3329	680	24	5	3303	5	CHD6	20	40050403	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	257597	40050403	22975117	1636	131154											
PTPRT	11122	broad.mit.edu	37	chr20	41408898	41408898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacctcgtccacggcgatGtagccaggatgacccttcaa	11	14	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:41408898G>A	uc002xkg.2	-	4	712	c.528C>T	c.(526-528)TAC>TAT	p.Y176Y	PTPRT_uc010ggj.2_Silent_p.Y176Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	176	Extracellular (Potential).|MAM.				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCACGGCGATGTAGCCAGGAT	0.517													A	41408898	G	A	41408898	2	1	264	1	0	0	0	0	0	0	0	1	12812	1372	48	4		4	PTPRT	20	41408898	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1358495	41408898	21616622	1637	131155											
MYBL2	4605	broad.mit.edu	37	chr20	42328684	42328684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggacttgatcgagtcGgtatgttggtcacaacactt	11	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:42328684G>A	uc002xlb.1	+	7	1166	c.951G>A	c.(949-951)TCG>TCA	p.S317S	MYBL2_uc010zwj.1_Silent_p.S293S|MYBL2_uc002xla.1_Silent_p.S317S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	317						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGATCGAGTCGGTATGTTGGT	0.552													A	42328684	G	A	42328684	2	1	264	1	0	0	0	0	0	0	0	1	10010	1130	39	1		1	MYBL2	20	42328684	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	919786	42328684	20696836	1638	131156											
JPH2	57158	broad.mit.edu	37	chr20	42789004	42789004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgctctggcgtactccGtagccatggcgcatgccgtt	13	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:42789004G>A	uc002xli.1	-	2	1296	c.423C>T	c.(421-423)TAC>TAT	p.Y141Y		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	141	Gly-rich.|Cytoplasmic (Potential).|MORN 6.		Y -> H (in CMH17; results in vacuolization of intracellular structures and cardiomyocyte hypertrophy; affects intracellular calcium handling and homeostasis).		calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCGTACTCCGTAGCCATGGC	0.706													A	42789004	G	A	42789004	2	1	264	1	0	0	0	0	0	0	0	1	7961	1140	40	1		1	JPH2	20	42789004	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	460320	42789004	20236516	1639	131157											
C20orf111	51526	broad.mit.edu	37	chr20	42825820	42825820	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcttgctcagaacaggatcGgggagagccagacagagttc	14	9	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:42825820G>T	uc002xlk.2	-	4	888	c.751C>A	c.(751-753)CGA>AGA	p.R251R		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	251											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAACAGGATCGGGGAGAGCCA	0.517													T	42825820	G	T	42825820	2	4	264	1	0	0	0	0	0	0	0	1	2080	1124	39	5		5	C20orf111	20	42825820	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	36816	42825820	20199700	1640	131158											
YWHAB	7529	broad.mit.edu	37	chr20	43530233	43530233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcgctgagcaggctgagcGatatgatgatatggctgcag	14	8	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:43530233G>A	uc002xmt.2	+	3	341	c.59G>A	c.(58-60)CGA>CAA	p.R20Q	YWHAB_uc002xmu.2_Missense_Mutation_p.R20Q	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	20					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			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				CAGGCTGAGCGATATGATGAT	0.458													A	43530233	G	A	43530233	3	1	264	1	0	0	0	0	1	0	0	0	17498	1058	37	1	61	1	YWHAB	20	43530233	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	704413	43530233	19495287	1641	131159											
KCNS1	3787	broad.mit.edu	37	chr20	43727032	43727032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcgaagacgcacagctcGtcgagcacgtgcaggtggcc	15	12	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:43727032G>A	uc002xnc.2	-	4	778	c.381C>T	c.(379-381)GAC>GAT	p.D127D	KCNS1_uc002xnd.2_Silent_p.D127D	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	127	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CGCACAGCTCGTCGAGCACGT	0.677													A	43727032	G	A	43727032	2	1	264	1	0	0	0	0	0	0	0	1	8088	1136	40	1		1	KCNS1	20	43727032	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	196799	43727032	19298488	1642	131160											
PIGT	51604	broad.mit.edu	37	chr20	44050026	44050027	+	Frame_Shift_Ins	INS	-	-	C													atatttctttacacagaggcINSccccccagtgcccttcctgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:44050025_44050026G>GC	uc002xoh.2	+	8	1126_1127	c.1036_1037G>GC	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Ins_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Ins_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Ins_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Ins_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Ins_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Ins_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Ins_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Ins_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Ins_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Ins_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Ins_p.A22fs	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	346					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	p.A346A(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574													C	44050027	-	C	44050026	7	5	264	1	0	1	1	0	0	0	0	0	11899	739	26	0	1071	0	PIGT	20	44050026	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	322994	44050026	18975494	1643	131161											
SNX21	90203	broad.mit.edu	37	chr20	44469499	44469499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagtttttgggtcacctGcaggcagtgcctgagctgcg	15	10	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:44469499G>A	uc002xpv.1	+	4	758	c.669G>A	c.(667-669)CTG>CTA	p.L223L	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Silent_p.L34L|SNX21_uc002xpx.2_Silent_p.L213L|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Silent_p.L34L|SNX21_uc002xpz.1_Silent_p.L34L	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	223	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TGGGTCACCTGCAGGCAGTGC	0.637													A	44469499	G	A	44469499	2	1	264	1	0	0	0	0	0	0	0	1	14893	1306	46	2		2	SNX21	20	44469499	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	419473	44469499	18556021	1644	131162											
ELMO2	63916	broad.mit.edu	37	chr20	45003058	45003058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcatgtttgtcttcccGgctactgttctccaagacaa	7	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:45003058G>A	uc002xrt.1	-	15	1402	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	ELMO2_uc010zxq.1_Missense_Mutation_p.R130W|ELMO2_uc002xrs.1_Missense_Mutation_p.R145W|ELMO2_uc002xru.1_Missense_Mutation_p.R398W|ELMO2_uc010zxr.1_Missense_Mutation_p.R410W|ELMO2_uc010zxs.1_Missense_Mutation_p.R215W|ELMO2_uc002xrv.1_Missense_Mutation_p.R117W|ELMO2_uc002xrw.2_Missense_Mutation_p.R215W	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	398	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TTGTCTTCCCGGCTACTGTTC	0.527													A	45003058	G	A	45003058	3	1	264	1	0	0	0	0	1	0	0	0	5066	1115	39	1	1002	1	ELMO2	20	45003058	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	533559	45003058	18022462	1645	131163											
ZMYND8	23613	broad.mit.edu	37	chr20	45874842	45874842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctaaatctatgacaagttCgctctctgaatcagagtcca	6	11	3	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:45874842C>T	uc002xta.1	-	14	2388	c.2134G>A	c.(2134-2136)GAA>AAA	p.E712K	ZMYND8_uc010ghq.1_Missense_Mutation_p.E389K|ZMYND8_uc010ghr.1_Missense_Mutation_p.E687K|ZMYND8_uc002xst.1_Missense_Mutation_p.E640K|ZMYND8_uc002xsu.1_Missense_Mutation_p.E712K|ZMYND8_uc002xsv.1_Missense_Mutation_p.E640K|ZMYND8_uc002xsw.1_Missense_Mutation_p.E464K|ZMYND8_uc002xsx.1_Missense_Mutation_p.E464K|ZMYND8_uc002xsy.1_Missense_Mutation_p.E687K|ZMYND8_uc002xsz.1_Missense_Mutation_p.E649K|ZMYND8_uc010zxy.1_Missense_Mutation_p.E739K|ZMYND8_uc002xtb.1_Missense_Mutation_p.E732K|ZMYND8_uc002xss.2_Missense_Mutation_p.E712K|ZMYND8_uc010zxz.1_Missense_Mutation_p.E707K|ZMYND8_uc002xtc.1_Missense_Mutation_p.E732K|ZMYND8_uc002xtd.1_Missense_Mutation_p.E707K|ZMYND8_uc002xte.1_Missense_Mutation_p.E712K|ZMYND8_uc010zya.1_Missense_Mutation_p.E712K|ZMYND8_uc002xtf.1_Missense_Mutation_p.E732K|ZMYND8_uc002xtg.2_Missense_Mutation_p.E706K|ZMYND8_uc010ghs.1_Missense_Mutation_p.E706K	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	712							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATGACAAGTTCGCTCTCTGAA	0.463													T	45874842	C	T	45874842	3	4	264	1	0	0	0	0	1	0	0	0	17708	893	31	1	1412	1	ZMYND8	20	45874842	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	871784	45874842	17150678	1646	131164											
SULF2	55959	broad.mit.edu	37	chr20	46305272	46305272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgccgtctggtactcaGcacgctgacacaggtccttc	9	16	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:46305272G>A	uc002xto.2	-	10	1676	c.1346C>T	c.(1345-1347)GCT>GTT	p.A449V	SULF2_uc002xtr.2_Missense_Mutation_p.A449V|SULF2_uc002xtq.2_Missense_Mutation_p.A449V	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	449					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			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CTGGTACTCAGCACGCTGACA	0.602													A	46305272	G	A	46305272	3	1	264	1	0	0	0	0	1	0	0	0	15370	971	34	2	1314	2	SULF2	20	46305272	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	430430	46305272	16720248	1647	131165											
SLC9A8	23315	broad.mit.edu	37	chr20	48500458	48500458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagcggcagctcatcgGcaccaccaccatcgtcatcg	11	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:48500458G>A	uc002xuv.1	+	14	1556	c.1346G>A	c.(1345-1347)GGC>GAC	p.G449D	SLC9A8_uc010zym.1_Missense_Mutation_p.G149D|SLC9A8_uc010gic.2_Missense_Mutation_p.G149D|SLC9A8_uc010gid.2_Missense_Mutation_p.G73D	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	449						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAGCTCATCGGCACCACCACC	0.627													A	48500458	G	A	48500458	3	1	264	1	0	0	0	0	1	0	0	0	14720	1203	42	2	1400	2	SLC9A8	20	48500458	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2195186	48500458	14525062	1648	131166											
KCNG1	3755	broad.mit.edu	37	chr20	49621005	49621005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaactcgcgggtgcagcgGcgggccgtgagccccagcgt	17	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:49621005G>A	uc002xwa.3	-	3	1408	c.1113C>T	c.(1111-1113)CGC>CGT	p.R371R		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	371	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GGGTGCAGCGGCGGGCCGTGA	0.706													A	49621005	G	A	49621005	2	1	264	1	0	0	0	0	0	0	0	1	8027	1190	42	2		2	KCNG1	20	49621005	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1120547	49621005	13404515	1649	131167											
NFATC2	4773	broad.mit.edu	37	chr20	50051780	50051780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctcttcccattgatgacGtagaagttcacttttacagg	7	9	2	3	rs142900177		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:50051780G>A	uc002xwd.2	-	8	2197	c.1977C>T	c.(1975-1977)TAC>TAT	p.Y659Y	NFATC2_uc002xwc.2_Silent_p.Y659Y|NFATC2_uc010zyv.1_Silent_p.Y440Y|NFATC2_uc010zyw.1_Silent_p.Y440Y|NFATC2_uc010zyx.1_Silent_p.Y639Y|NFATC2_uc010zyy.1_Silent_p.Y440Y|NFATC2_uc010zyz.1_Silent_p.Y440Y|NFATC2_uc002xwe.2_Silent_p.Y639Y	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	659					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			ovary(2)	2	Hepatocellular(150;0.248)					CATTGATGACGTAGAAGTTCA	0.393													A	50051780	G	A	50051780	2	1	264	1	0	0	0	0	0	0	0	1	10362	1140	40	1		1	NFATC2	20	50051780	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	430775	50051780	12973740	1650	131168											
CASS4	57091	broad.mit.edu	37	chr20	55033576	55033576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcaagctggtcatcatgGtgggacagaagctggtggac	16	7	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:55033576G>T	uc002xxp.2	+	7	2359	c.2134G>T	c.(2134-2136)GTG>TTG	p.V712L	CASS4_uc002xxr.2_Missense_Mutation_p.V712L|CASS4_uc010zze.1_Missense_Mutation_p.V658L|CASS4_uc010gio.2_Missense_Mutation_p.V275L	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	712					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GGTCATCATGGTGGGACAGAA	0.602													T	55033576	G	T	55033576	3	4	264	1	0	0	0	0	1	0	0	0	2683	1261	44	5	2156	5	CASS4	20	55033576	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4981796	55033576	7991944	1651	131169											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:57484420C>T	uc002xzw.2	+	8	2815	c.2530C>T	c.(2530-2532)CGT>TGT	p.R844C	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142C|GNAS_uc002xzx.2_Missense_Mutation_p.R142C|GNAS_uc010gjr.2_Missense_Mutation_p.R92C|GNAS_uc002xzy.2_Missense_Mutation_p.R127C|GNAS_uc002yaa.2_Missense_Mutation_p.R187C|GNAS_uc010zzt.1_Missense_Mutation_p.R202C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92C|GNAS_uc002yae.2_Missense_Mutation_p.R126C	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	201	GTP (By similarity).		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(182)|p.R201S(5)		pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57484420	C	T	57484420	3	4	264	1	0	0	0	0	1	0	0	0	6510	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2450844	57484420	5541100	1652	131170											
NTSR1	4923	broad.mit.edu	37	chr20	61391412	61391412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttctacatggtgaccaaCgcactcttctacgtcagctc	6	14	4	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:61391412C>T	uc002ydf.2	+	4	1421	c.1050C>T	c.(1048-1050)AAC>AAT	p.N350N		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	350	Helical; Name=7; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TGGTGACCAACGCACTCTTCT	0.572													T	61391412	C	T	61391412	2	4	264	1	0	0	0	0	0	0	0	1	10710	535	19	1		1	NTSR1	20	61391412	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3906992	61391412	1634108	1653	131171											
OGFR	11054	broad.mit.edu	37	chr20	61443913	61443913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggaggaggaaggaagcCccggggaccccgaccacgag	18	11	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:61443913C>A	uc002ydj.2	+	7	981	c.946C>A	c.(946-948)CCC>ACC	p.P316T	OGFR_uc002ydk.2_Missense_Mutation_p.P299T|OGFR_uc002ydl.2_Missense_Mutation_p.P264T	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	316					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					GGAAGGAAGCCCCGGGGACCC	0.692													A	61443913	C	A	61443913	3	1	264	1	0	0	0	0	1	0	0	0	10843	623	22	5	972	5	OGFR	20	61443913	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	52501	61443913	1581607	1654	131172											
YTHDF1	54915	broad.mit.edu	37	chr20	61835025	61835025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgttactgagctgtccGtaggtggtgaggtatggaat	14	7	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:61835025G>A	uc002yeh.2	-	4	561	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	YTHDF1_uc011aaq.1_Silent_p.Y39Y	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	89										ovary(2)	2						TGAGCTGTCCGTAGGTGGTGA	0.522													A	61835025	G	A	61835025	2	1	264	1	0	0	0	0	0	0	0	1	17495	1140	40	1		1	YTHDF1	20	61835025	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	391112	61835025	1190495	1655	131173											
PRIC285	85441	broad.mit.edu	37	chr20	62192526	62192526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggatctgcctcacgtccAggattttgaggctggcagag	13	10	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:62192526A>G	uc002yfm.2	-	15	7947	c.7055T>C	c.(7054-7056)CTG>CCG	p.L2352P	PRIC285_uc002yfl.1_Missense_Mutation_p.L1783P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2352					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCTCACGTCCAGGATTTTGAG	0.597													G	62192526	A	G	62192526	3	3	264	1	0	0	0	0	1	0	0	0	12485	188	7	3	918	3	PRIC285	20	62192526	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	357501	62192526	832994	1656	131174											
PRIC285	85441	broad.mit.edu	37	chr20	62195546	62195546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccgtccgcgtgcactcGctgcccaccaggaactcagc	11	17	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:62195546G>A	uc002yfm.2	-	9	5521	c.4629C>T	c.(4627-4629)AGC>AGT	p.S1543S	PRIC285_uc002yfl.1_Silent_p.S974S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1543					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCGTGCACTCGCTGCCCACCA	0.652													A	62195546	G	A	62195546	2	1	264	1	0	0	0	0	0	0	0	1	12485	1078	38	1		1	PRIC285	20	62195546	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3020	62195546	829974	1657	131175											
DNAJC5	80331	broad.mit.edu	37	chr20	62559718	62559718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcagaccagagacagcGctcactgtctacctctgggg	12	13	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:62559718G>A	uc002yhf.2	+	2	190	c.20G>A	c.(19-21)CGC>CAC	p.R7H	DNAJC5_uc002yhg.1_Missense_Mutation_p.R7H|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	7					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGAGACAGCGCTCACTGTCT	0.438													A	62559718	G	A	62559718	3	1	264	1	0	0	0	0	1	0	0	0	4650	1087	38	1	22	1	DNAJC5	20	62559718	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	364172	62559718	465802	1658	131176											
ADAMTS1	9510	broad.mit.edu	37	chr21	28216636	28216636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttcgtcctcgtcttcgGtctccgctttcccagtcggc	8	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:28216636G>A	uc002ymf.2	-	1	1093	c.638C>T	c.(637-639)ACC>ATC	p.T213I		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	213					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		CTCGTCTTCGGTCTCCGCTTT	0.682											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	28216636	G	A	28216636	3	1	264	1	0	0	0	0	1	0	0	0	255	1261	44	4	2301	4	ADAMTS1	21	28216636	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08		28216636	19913259	1659	131177											
RNF160	26046	broad.mit.edu	37	chr21	30353447	30353447	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagattaatatacctgaggTacactgtgttttccatactt	6	7	0	2	rs144877616		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:30353447T>C	uc002ymr.2	-	6	955	c.942A>G	c.(940-942)GTA>GTG	p.V314V	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	268							ligase activity|zinc ion binding				0						ATACCTGAGGTACACTGTGTT	0.308													C	30353447	T	C	30353447	2	2	264	1	0	0	0	0	0	0	0	1	13455	1625	57	3		3	RNF160	21	30353447	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2136811	30353447	17776448	1660	131178											
OLIG2	10215	broad.mit.edu	37	chr21	34399432	34399432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcgtcgtctacgtcgTcggcggctgcgtcgtccacc	12	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:34399432T>G	uc002yqx.1	+	2	420	c.262T>G	c.(262-264)TCG>GCG	p.S88A		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	88	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GTCTACGTCGTCGGCGGCTGC	0.632			T	TRA@	T-ALL								G	34399432	T	G	34399432	3	3	264	1	0	0	0	0	1	0	0	0	10861	1667	58	5	264	5	OLIG2	21	34399432	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	4045985	34399432	13730463	1661	131179											
CLIC6	54102	broad.mit.edu	37	chr21	36042950	36042950	+	Frame_Shift_Del	DEL	C	C	-													aaccacctggccgaggagggCcccgccgagggtagcggcga							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:36042950delC	uc010gmt.1	+	1	1263	c.1263delC	c.(1261-1263)GGCfs	p.G421fs	CLIC6_uc002yuf.1_Frame_Shift_Del_p.G421fs	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	421						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						CCGAGGAGGGCCCCGCCGAGG	0.761													-	36042950	C	-	36042950	7	5	264	1	0	1	0	1	0	0	0	0	3530	726	26	0	1265	0	CLIC6	21	36042950	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	1643518	36042950	12086945	1662	131180											
DOPEY2	9980	broad.mit.edu	37	chr21	37653908	37653908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccttccactgatacaAggtaagacagctgtcttagt	7	10	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:37653908A>G	uc002yvg.2	+	32	6238	c.6159A>G	c.(6157-6159)CAA>CAG	p.Q2053Q	DOPEY2_uc011aeb.1_Silent_p.Q2002Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2053					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CACTGATACAAGGTAAGACAG	0.244													G	37653908	A	G	37653908	2	3	264	1	0	0	0	0	0	0	0	1	4708	86	3	3		3	DOPEY2	21	37653908	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1610958	37653908	10475987	1663	131181											
SIM2	6493	broad.mit.edu	37	chr21	38098537	38098537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtcgctgccacccagtGccatcaccgagatcaagctg	10	16	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:38098537G>A	uc002yvr.2	+	6	717	c.661G>A	c.(661-663)GCC>ACC	p.A221T	SIM2_uc002yvq.2_Missense_Mutation_p.A221T	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	221	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1						GCCACCCAGTGCCATCACCGA	0.552													A	38098537	G	A	38098537	3	1	264	1	0	0	0	0	1	0	0	0	14324	1319	46	2	683	2	SIM2	21	38098537	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	444629	38098537	10031358	1664	131182											
TMPRSS3	64699	broad.mit.edu	37	chr21	43803162	43803162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcataaacacagtgtgcagcAgtgatgatccacaggggcgt	12	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:43803162A>G	uc002zbb.2	-	8	963	c.762T>C	c.(760-762)ACT>ACC	p.T254T	TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T127T|TMPRSS3_uc002zba.2_Silent_p.T127T|TMPRSS3_uc002zbc.2_Silent_p.T254T|TMPRSS3_uc002zbd.2_Silent_p.T254T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	254	Peptidase S1.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						AGTGTGCAGCAGTGATGATCC	0.592													G	43803162	A	G	43803162	2	3	264	1	0	0	0	0	0	0	0	1	16245	175	7	3		3	TMPRSS3	21	43803162	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	5704625	43803162	4326733	1665	131183											
SIK1	150094	broad.mit.edu	37	chr21	44841868	44841868	+	Frame_Shift_Del	DEL	T	T	-													gcttaccaaacatttctccaTttttagcaaattcagtgacg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:44841868delT	uc002zdf.2	-	4	450	c.323delA	c.(322-324)AATfs	p.N108fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	108	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						CATTTCTCCATTTTTAGCAAA	0.443													-	44841868	T	-	44841868	7	5	264	1	0	1	0	1	0	0	0	0	14317	1493	52	0	2072	0	SIK1	21	44841868	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	1038706	44841868	3288027	1666	131184											
TRPM2	7226	broad.mit.edu	37	chr21	45810896	45810896	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgagatcttcatggatgaGtggcagtggaaggtaagtct	15	4	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:45810896G>C	uc002zet.1	+	11	1641	c.1428G>C	c.(1426-1428)GAG>GAC	p.E476D	TRPM2_uc002zeu.1_Missense_Mutation_p.E476D|TRPM2_uc002zew.1_Missense_Mutation_p.E476D|TRPM2_uc010gpt.1_Missense_Mutation_p.E476D|TRPM2_uc002zex.1_Missense_Mutation_p.E262D|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	476	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCATGGATGAGTGGCAGTGGA	0.572													C	45810896	G	C	45810896	3	2	264	1	0	0	0	0	1	0	0	0	16583	1020	36	5	1466	5	TRPM2	21	45810896	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	969028	45810896	2318999	1667	131185											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066846	46066846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaagcctgtgtgctgTgtgtccacctgctctgagga	13	11	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:46066846T>C	uc002zfr.3	+	1	516	c.471T>C	c.(469-471)TGT>TGC	p.C157C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	157	25 X 5 AA repeats of C-C-X(3).|15.					keratin filament				ovary(1)	1						CTGTGTGCTGTGTGTCCACCT	0.358													C	46066846	T	C	46066846	2	2	264	1	0	0	0	0	0	0	0	1	8507	1702	59	3		3	KRTAP10-11	21	46066846	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	255950	46066846	2063049	1668	131186											
SLC19A1	6573	broad.mit.edu	37	chr21	46951771	46951771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgaacacgcccagcaGcaccgcagcgcgcgagtagc	14	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:46951771G>A	uc002zhl.1	-	3	600	c.481C>T	c.(481-483)CTG>TTG	p.L161L	SLC19A1_uc010gpy.1_Silent_p.L161L|SLC19A1_uc011aft.1_Silent_p.L121L|SLC19A1_uc002zhm.1_Silent_p.L161L|SLC19A1_uc010gpz.1_Silent_p.L40L	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	161	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACGCCCAGCAGCACCGCAGCG	0.662													A	46951771	G	A	46951771	2	1	264	1	0	0	0	0	0	0	0	1	14428	962	34	2		2	SLC19A1	21	46951771	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	884925	46951771	1178124	1669	131187											
COL6A1	1291	broad.mit.edu	37	chr21	47423058	47423059	+	Frame_Shift_Ins	INS	-	-	C													aagtgtccagattacacctgINSccccagtgagtacctcggcg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47423058_47423059insC	uc002zhu.1	+	34	2561_2562	c.2459_2460insC	c.(2458-2460)TGCfs	p.C820fs	COL6A1_uc010gqd.1_Frame_Shift_Ins_p.C151fs|COL6A1_uc002zhv.1_Frame_Shift_Ins_p.C151fs|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	820	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GATTACACCTGCCCCAGTGAGT	0.629													C	47423059	-	C	47423058	7	5	264	1	0	1	1	0	0	0	0	0	3699	1319	46	0	2593	0	COL6A1	21	47423058	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	471287	47423058	706837	1670	131188	670	2									
COL6A1	1291	broad.mit.edu	37	chr21	47423059	47423060	+	Frame_Shift_Ins	INS	-	-	C													agtgtccagattacacctgcINScccagtgagtacctcggcgg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47423058_47423059G>GC	uc002zhu.1	+	33	2561_2562	c.2459_2460G>GC	c.(2458-2460)tgcfs	p.C820fs	COL6A1_uc002zhv.1_Frame_Shift_Ins_p.C151fs	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	820	C-terminal globular domain.				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)	GATTACACCTGCCCCAGTGAGT	0.629													C	47423060	-	C	47423059	7	5	264	1	0	1	1	0	0	0	0	0	3699	747	26	0	2594	0	COL6A1	21	47423059	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1	47423059	706836	1671	131189	670	2									
FTCD	10841	broad.mit.edu	37	chr21	47571484	47571484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcacctggtccttcccGcggccctgctcccgcaggtt	13	17	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47571484G>A	uc002zif.2	-	5	668	c.624C>T	c.(622-624)CGC>CGT	p.R208R	FTCD_uc002zig.2_Silent_p.R208R|FTCD_uc002zih.2_Silent_p.R208R|FTCD_uc010gqf.2_Silent_p.R208R|FTCD_uc010gqg.1_Silent_p.R77R	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	208	Formiminotransferase C-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			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGTCCTTCCCGCGGCCCTGCT	0.652													A	47571484	G	A	47571484	2	1	264	1	0	0	0	0	0	0	0	1	6081	1074	38	1		1	FTCD	21	47571484	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	148425	47571484	558411	1672	131190											
LSS	4047	broad.mit.edu	37	chr21	47635602	47635602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaggcgctcaccatAtaccacgcggagcagccagc	11	16	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47635602A>G	uc002zij.2	-	8	968	c.889T>C	c.(889-891)TAT>CAT	p.Y297H	LSS_uc011afv.1_Missense_Mutation_p.Y286H|LSS_uc002zil.2_Missense_Mutation_p.Y297H|LSS_uc002zik.2_Missense_Mutation_p.Y217H	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	297					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					CGCTCACCATATACCACGCGG	0.667													G	47635602	A	G	47635602	3	3	264	1	0	0	0	0	1	0	0	0	9065	449	16	3	1369	3	LSS	21	47635602	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	64118	47635602	494293	1673	131191											
PCNT	5116	broad.mit.edu	37	chr21	47831877	47831877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacacacgggtgcccgggGcccacccacagcctcgcatg	11	19	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47831877G>A	uc002zji.3	+	28	5997	c.5890G>A	c.(5890-5892)GCC>ACC	p.A1964T	PCNT_uc002zjj.2_Missense_Mutation_p.A1846T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1964					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGTGCCCGGGGCCCACCCACA	0.701													A	47831877	G	A	47831877	3	1	264	1	0	0	0	0	1	0	0	0	11590	1203	42	2	6000	2	PCNT	21	47831877	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	196275	47831877	298018	1674	131192											
TSSK2	23617	broad.mit.edu	37	chr22	19119732	19119732	+	Frame_Shift_Del	DEL	C	C	-													tcagccactcgtggctgcagCcccccaagcccaaagccacg							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:19119731_19119731GC>G	uc002zow.2	+	0	1411	c.819_819GC>G	c.(817-819)cagfs	p.Q273fs	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	273					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)					CGTGGCTGCAGCCCCCCAAGC	0.622													-	19119732	C	-	19119732	7	5	264	1	0	1	0	1	0	0	0	0	16666	739	26	0	822	0	TSSK2	22	19119732	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08		19119732	32184834	1675	131193											
RTN4R	65078	broad.mit.edu	37	chr22	20230572	20230572	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagcatacgcaggcaccTgggcatggggctgccacctg	14	12	0	0	rs141485735	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:20230572T>G	uc002zrv.2	-	2	285	c.84A>C	c.(82-84)CCA>CCC	p.P28P	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	28	LRRNT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					CGCAGGCACCTGGGCATGGGG	0.672													G	20230572	T	G	20230572	2	3	264	1	0	0	0	0	0	0	0	1	13730	1567	55	5		5	RTN4R	22	20230572	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	1110840	20230572	31073994	1676	131194											
LZTR1	8216	broad.mit.edu	37	chr22	21345966	21345966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccggggctccccaccacccCcgcagcggcgctacgggcat	12	20	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:21345966C>A	uc002zto.2	+	9	944	c.841C>A	c.(841-843)CCG>ACG	p.P281T	LZTR1_uc002ztn.2_Missense_Mutation_p.P240T|LZTR1_uc011ahy.1_Missense_Mutation_p.P262T|LZTR1_uc010gsr.1_Missense_Mutation_p.P152T	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	281	Kelch 4.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.P281L(1)		ovary(2)|lung(2)	4	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)			CCCACCACCCCCGCAGCGGCG	0.637													A	21345966	C	A	21345966	3	1	264	1	0	0	0	0	1	0	0	0	9137	623	22	5	875	5	LZTR1	22	21345966	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1115394	21345966	29958600	1677	131195											
SLC7A4	6545	broad.mit.edu	37	chr22	21385709	21385709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggcacgggccacggcGgcgccaccgatgatgtattc	13	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:21385709G>A	uc002zud.2	-	2	461	c.393C>T	c.(391-393)GCC>GCT	p.A131A	SLC7A4_uc002zue.2_Silent_p.A131A	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	131	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGCCACGGCGGCGCCACCGA	0.612													A	21385709	G	A	21385709	2	1	264	1	0	0	0	0	0	0	0	1	14699	1103	39	1		1	SLC7A4	22	21385709	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	39743	21385709	29918857	1678	131196											
VPREB1	7441	broad.mit.edu	37	chr22	22599374	22599374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttgtggtcctcagccGgtgctgcatcagccgccggc	14	15	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:22599374G>A	uc002zvx.1	+	2	89	c.63G>A	c.(61-63)CCG>CCA	p.P21P	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	21	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding				0	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)		GTCCTCAGCCGGTGCTGCATC	0.627													A	22599374	G	A	22599374	2	1	264	1	0	0	0	0	0	0	0	1	17183	1103	39	1		1	VPREB1	22	22599374	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1213665	22599374	28705192	1679	131197											
PRAME	23532	broad.mit.edu	37	chr22	22892314	22892314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagaggaggagtctacGcagattaatcatctggccca	14	8	3	2	rs41277505	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:22892314G>A	uc002zwf.2	-	4	943	c.787C>T	c.(787-789)CGT>TGT	p.R263C	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.R247C|PRAME_uc010gtr.2_Missense_Mutation_p.R263C|PRAME_uc002zwg.2_Missense_Mutation_p.R263C|PRAME_uc002zwh.2_Missense_Mutation_p.R263C|PRAME_uc002zwi.2_Missense_Mutation_p.R263C|PRAME_uc002zwj.2_Missense_Mutation_p.R263C|PRAME_uc002zwk.2_Missense_Mutation_p.R263C	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	263					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			central_nervous_system(2)	2	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)		AGGAGTCTACGCAGATTAATC	0.498													A	22892314	G	A	22892314	3	1	264	1	0	0	0	0	1	0	0	0	12424	1087	38	1	750	1	PRAME	22	22892314	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	292940	22892314	28412252	1680	131198											
PIWIL3	440822	broad.mit.edu	37	chr22	25155867	25155867	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcctcctgctcctccTcttgctgctcttggctgcag	8	18	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:25155867T>G	uc003abd.1	-	3	609	c.192A>C	c.(190-192)AGA>AGC	p.R64S	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.R64S	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	64					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						CTGCTCCTCCTCTTGCTGCTC	0.587													G	25155867	T	G	25155867	3	3	264	1	0	0	0	0	1	0	0	0	11959	1548	54	5	2532	5	PIWIL3	22	25155867	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2263553	25155867	26148699	1681	131199											
SGSM1	129049	broad.mit.edu	37	chr22	25294157	25294157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcggaacacccccacGgtgctgcgacctagggatgg	14	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:25294157G>A	uc003abg.2	+	20	2563	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	SGSM1_uc003abh.2_Silent_p.T741T|SGSM1_uc010guu.1_Silent_p.T747T|SGSM1_uc003abj.2_Silent_p.T686T|SGSM1_uc003abi.1_Silent_p.T722T	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	802	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACACCCCCACGGTGCTGCGAC	0.627													A	25294157	G	A	25294157	2	1	264	1	0	0	0	0	0	0	0	1	14222	1103	39	1		1	SGSM1	22	25294157	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	138290	25294157	26010409	1682	131200											
CRYBB3	1417	broad.mit.edu	37	chr22	25597378	25597378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagatggcggaacagcaCggagcacccgaacaggctgc	17	11	0	1	rs149884520		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:25597378C>T	uc003abo.1	+	2	87	c.15C>T	c.(13-15)CAC>CAT	p.H5H		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	5	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens				0						CGGAACAGCACGGAGCACCCG	0.597													T	25597378	C	T	25597378	2	4	264	1	0	0	0	0	0	0	0	1	3912	535	19	1		1	CRYBB3	22	25597378	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	303221	25597378	25707188	1683	131201											
ZNRF3	84133	broad.mit.edu	37	chr22	29446260	29446260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggggccgcccctgacctCaggaggacctggaagggggg	18	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29446260C>T	uc003aeg.2	+	8	1956	c.1791C>T	c.(1789-1791)CTC>CTT	p.L597L	ZNRF3_uc003aeh.1_Silent_p.L597L	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	697	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						CCCCTGACCTCAGGAGGACCT	0.677													T	29446260	C	T	29446260	2	4	264	1	0	0	0	0	0	0	0	1	18210	813	29	4		4	ZNRF3	22	29446260	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3848882	29446260	21858306	1684	131202											
EWSR1	2130	broad.mit.edu	37	chr22	29693934	29693934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatgccaccaccactccGtggaggtactttttctgagc	10	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29693934G>A	uc003aet.2	+	13	1740	c.1412G>A	c.(1411-1413)CGT>CAT	p.R471H	EWSR1_uc003aev.2_Missense_Mutation_p.R476H|EWSR1_uc003aew.2_Missense_Mutation_p.R415H|EWSR1_uc003aex.2_Missense_Mutation_p.R470H|EWSR1_uc003aey.2_Missense_Mutation_p.R266H|EWSR1_uc003aez.2_Missense_Mutation_p.R132H	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	471	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						CCACCACTCCGTGGAGGTACT	0.453			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								A	29693934	G	A	29693934	3	1	264	1	0	0	0	0	1	0	0	0	5296	1145	40	1	1579	1	EWSR1	22	29693934	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	247674	29693934	21610632	1685	131203											
RASL10A	10633	broad.mit.edu	37	chr22	29711228	29711228	+	Frame_Shift_Del	DEL	C	C	-													gaacggccacccgcaggctaCcccccatggccggccggcgc							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29711228delC	uc003aff.2	-	1	521	c.8delG	c.(7-9)GGTfs	p.G3fs	RASL10A_uc003afg.2_Frame_Shift_Del_p.G3fs	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	RAS-related on chromosome 22 isoform a	3	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity				0						CCGCAGGCTACCCCCCATGGC	0.537													-	29711228	C	-	29711228	7	5	264	1	0	1	0	1	0	0	0	0	13079	507	18	0	619	0	RASL10A	22	29711228	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	17294	29711228	21593338	1686	131204											
AP1B1	162	broad.mit.edu	37	chr22	29752428	29752428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcacctctgggcctcgcGgtcgtccttgggcatatagt	12	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29752428G>A	uc003afj.2	-	6	887	c.703C>T	c.(703-705)CGC>TGC	p.R235C	AP1B1_uc003afi.2_Missense_Mutation_p.R235C|AP1B1_uc003afk.2_Missense_Mutation_p.R235C|AP1B1_uc003afl.2_Missense_Mutation_p.R235C	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	235					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			ovary(1)|skin(1)	2						TGGGCCTCGCGGTCGTCCTTG	0.627													A	29752428	G	A	29752428	3	1	264	1	0	0	0	0	1	0	0	0	731	1116	39	1	2218	1	AP1B1	22	29752428	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	41200	29752428	21552138	1687	131205											
ASCC2	84164	broad.mit.edu	37	chr22	30185160	30185160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggccactgctgttgagcTgtcatgccggtacctgaggg	15	12	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:30185160T>C	uc003agr.2	-	20	2221	c.2116A>G	c.(2116-2118)AGC>GGC	p.S706G	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.S706G|ASCC2_uc011akr.1_Missense_Mutation_p.S630G	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCTGTTGAGCTGTCATGCCGG	0.632													C	30185160	T	C	30185160	3	2	264	1	0	0	0	0	1	0	0	0	1032	1580	55	3	161	3	ASCC2	22	30185160	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	432732	30185160	21119406	1688	131206											
TCN2	6948	broad.mit.edu	37	chr22	31011717	31011717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatttcccagctgctgcccGttctgaaccacaagacctac	7	15	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:31011717G>A	uc003aip.1	+	6	1041	c.883G>A	c.(883-885)GTT>ATT	p.V295I	TCN2_uc003aiq.1_Missense_Mutation_p.V291I|TCN2_uc003air.1_Missense_Mutation_p.V268I	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	295					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCTGCCCGTTCTGAACCA	0.522													A	31011717	G	A	31011717	3	1	264	1	0	0	0	0	1	0	0	0	15704	1145	40	1	905	1	TCN2	22	31011717	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	826557	31011717	20292849	1689	131207											
OSBP2	23762	broad.mit.edu	37	chr22	31289120	31289121	+	Frame_Shift_Ins	INS	-	-	C													ggtctcaggtgagccaccacINScccccctcagctgcgcacta							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:31289119_31289120A>AC	uc003aiy.1	+	8	1984_1985	c.1880_1881A>AC	c.(1879-1881)cacfs	p.H627fs	OSBP2_uc011ala.1_Frame_Shift_Ins_p.H461fs|OSBP2_uc010gwc.1_Frame_Shift_Ins_p.H454fs|OSBP2_uc011alb.1_Frame_Shift_Ins_p.H578fs|OSBP2_uc003aiz.1_Frame_Shift_Ins_p.H626fs|OSBP2_uc003aja.1_Frame_Shift_Ins_p.H260fs|OSBP2_uc011alc.2_Frame_Shift_Ins_p.H369fs|OSBP2_uc011ald.1_Frame_Shift_Ins_p.H171fs|OSBP2_uc010gwd.1_Frame_Shift_Ins_p.H172fs	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	627					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						GTGAGCCACCACCCCCCCTCAG	0.594													C	31289121	-	C	31289120	7	5	264	1	0	1	1	0	0	0	0	0	11274	506	18	0	1915	0	OSBP2	22	31289120	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	277403	31289120	20015446	1690	131208											
LIMK2	3985	broad.mit.edu	37	chr22	31663021	31663021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaaagagttaattcgaTgtgatgaggagacccagaaa	11	5	1	6	rs138769386		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:31663021T>C	uc003akh.2	+	9	1238	c.1093T>C	c.(1093-1095)TGT>CGT	p.C365R	LIMK2_uc003akg.2_Missense_Mutation_p.C282R|LIMK2_uc003aki.2_Missense_Mutation_p.C119R|LIMK2_uc003akj.2_Missense_Mutation_p.C344R|LIMK2_uc003akk.2_Missense_Mutation_p.C344R|LIMK2_uc011aln.1_Missense_Mutation_p.C282R	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	365	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						GTTAATTCGATGTGATGAGGA	0.488													C	31663021	T	C	31663021	3	2	264	1	0	0	0	0	1	0	0	0	8802	1464	51	3	1184	3	LIMK2	22	31663021	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	373901	31663021	19641545	1691	131209											
LARGE	9215	broad.mit.edu	37	chr22	33700401	33700401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagccctgtgcgtagCggaggaactgctgggcctcg	15	13	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:33700401C>T	uc003and.3	-	13	2123	c.1544G>A	c.(1543-1545)CGC>CAC	p.R515H	LARGE_uc011amd.1_Missense_Mutation_p.R314H|LARGE_uc003ane.3_Missense_Mutation_p.R515H|LARGE_uc010gwp.2_Missense_Mutation_p.R463H|LARGE_uc011ame.1_Missense_Mutation_p.R447H|LARGE_uc011amf.1_Missense_Mutation_p.R515H	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	515	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CTGTGCGTAGCGGAGGAACTG	0.627													T	33700401	C	T	33700401	3	4	264	1	0	0	0	0	1	0	0	0	8627	768	27	1	742	1	LARGE	22	33700401	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2037380	33700401	17604165	1692	131210											
APOL2	23780	broad.mit.edu	37	chr22	36624004	36624004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgctgctcccagacCcatgccagtgtccaagagca	10	15	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:36624004C>T	uc003aoz.2	-	5	796	c.460G>A	c.(460-462)GGT>AGT	p.G154S	APOL2_uc011amm.1_Missense_Mutation_p.G266S|APOL2_uc003apa.2_Missense_Mutation_p.G154S	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	154					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				0						GCTCCCAGACCCATGCCAGTG	0.562													T	36624004	C	T	36624004	3	4	264	1	0	0	0	0	1	0	0	0	806	623	22	4	557	4	APOL2	22	36624004	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2923603	36624004	14680562	1693	131211											
MYH9	4627	broad.mit.edu	37	chr22	36678790	36678790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatccccggcgcctttcCgggccattcggcggggcacg	14	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:36678790C>T	uc003apg.2	-	41	6038	c.5807G>A	c.(5806-5808)CGG>CAG	p.R1936Q		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1936					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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGCGCCTTTCCGGGCCATTCG	0.677			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				T	36678790	C	T	36678790	3	4	264	1	0	0	0	0	1	0	0	0	10042	652	23	1	79	1	MYH9	22	36678790	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	54786	36678790	14625776	1694	131212											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499331	37499331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaacaggggcaccaggcGgaggtagccccgggcttttc	14	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:37499331G>A	uc003aqs.1	-	2	268	c.154C>T	c.(154-156)CGC>TGC	p.R52C	TMPRSS6_uc003aqt.1_Missense_Mutation_p.R43C|TMPRSS6_uc003aqu.2_Missense_Mutation_p.R43C	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	52	Cytoplasmic (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						GGCACCAGGCGGAGGTAGCCC	0.657													A	37499331	G	A	37499331	3	1	264	1	0	0	0	0	1	0	0	0	16248	1116	39	1	2349	1	TMPRSS6	22	37499331	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	820541	37499331	13805235	1695	131213											
TRIOBP	11078	broad.mit.edu	37	chr22	38120377	38120377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaacatcctgtgcccagcGggacaatcccagagcctcca	8	17	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:38120377G>A	uc003atr.2	+	7	2085	c.1814G>A	c.(1813-1815)CGG>CAG	p.R605Q	TRIOBP_uc003atu.2_Missense_Mutation_p.R433Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R605Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R433Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	605					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)	1	Melanoma(58;0.0574)					TGTGCCCAGCGGGACAATCCC	0.587													A	38120377	G	A	38120377	3	1	264	1	0	0	0	0	1	0	0	0	16550	1116	39	1	1832	1	TRIOBP	22	38120377	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	621046	38120377	13184189	1696	131214											
GALR3	8484	broad.mit.edu	37	chr22	38221250	38221250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgctcgtctacgcgctcGcctcgcgccacttccgcgcg	10	21	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:38221250G>A	uc003aub.1	+	2	905	c.880G>A	c.(880-882)GCC>ACC	p.A294T		NM_003614	NP_003605	O60755	GALR3_HUMAN	galanin receptor 3	294	Cytoplasmic (Potential).				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity				0	Melanoma(58;0.045)					CTACGCGCTCGCCTCGCGCCA	0.771													A	38221250	G	A	38221250	3	1	264	1	0	0	0	0	1	0	0	0	6229	1087	38	1	886	1	GALR3	22	38221250	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	100873	38221250	13083316	1697	131215											
POLR2F	5435	broad.mit.edu	37	chr22	38352793	38352793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtacagttttgatggcgacGactttgatgatgtggaggag	15	4	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:38352793G>A	uc003aul.2	+	2	155	c.34G>A	c.(34-36)GAC>AAC	p.D12N	POLR2F_uc010gxi.2_5'UTR|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	12					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)	1	Melanoma(58;0.045)					TGATGGCGACGACTTTGATGA	0.408													A	38352793	G	A	38352793	3	1	264	1	0	0	0	0	1	0	0	0	12219	1058	37	1	40	1	POLR2F	22	38352793	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	131543	38352793	12951773	1698	131216											
MGAT3	4248	broad.mit.edu	37	chr22	39884756	39884756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctggttcgacggcacGcagcaggagtacccgcctgc	17	13	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:39884756G>A	uc003axv.3	+	2	1643	c.1404G>A	c.(1402-1404)ACG>ACA	p.T468T	MGAT3_uc010gxy.2_Silent_p.T468T	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	468	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TCGACGGCACGCAGCAGGAGT	0.632													A	39884756	G	A	39884756	2	1	264	1	0	0	0	0	0	0	0	1	9544	1074	38	1		1	MGAT3	22	39884756	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1531963	39884756	11419810	1699	131217											
FAM83F	113828	broad.mit.edu	37	chr22	40417954	40417954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaacgagaattccagTgctgacatctcaggtgagcc	11	12	1	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:40417954T>C	uc003ayk.1	+	4	1534	c.1440T>C	c.(1438-1440)AGT>AGC	p.S480S		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	480										breast(1)	1						AGAATTCCAGTGCTGACATCT	0.627													C	40417954	T	C	40417954	2	2	264	1	0	0	0	0	0	0	0	1	5638	1693	59	3		3	FAM83F	22	40417954	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	533198	40417954	10886612	1700	131218											
MKL1	57591	broad.mit.edu	37	chr22	40814976	40814976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagtggcgaggcctgcAgggtcagctgcgtcagaggt	17	10	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:40814976A>G	uc003ayv.1	-	9	1673	c.1466T>C	c.(1465-1467)CTG>CCG	p.L489P	MKL1_uc003ayw.1_Missense_Mutation_p.L489P|MKL1_uc010gye.1_Missense_Mutation_p.L489P|MKL1_uc010gyf.1_Missense_Mutation_p.L439P	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	489					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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CGAGGCCTGCAGGGTCAGCTG	0.687			T	RBM15	acute megakaryocytic leukemia								G	40814976	A	G	40814976	3	3	264	1	0	0	0	0	1	0	0	0	9601	188	7	3	1345	3	MKL1	22	40814976	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	397022	40814976	10489590	1701	131219											
SULT4A1	25830	broad.mit.edu	37	chr22	44237735	44237735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaccgggagctgctcgtCgatgttcatcaagccgatct	12	12	3	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:44237735C>T	uc003bee.1	-	2	363	c.247G>A	c.(247-249)GAC>AAC	p.D83N	SULT4A1_uc003bed.1_Missense_Mutation_p.D4N|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	83					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		AGCTGCTCGTCGATGTTCATC	0.622													T	44237735	C	T	44237735	3	4	264	1	0	0	0	0	1	0	0	0	15380	884	31	1	631	1	SULT4A1	22	44237735	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3422759	44237735	7066831	1702	131220											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45221431	45221431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagacaccaccgccgcGgcccccgctgcccacacagc	8	23	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:45221431G>A	uc003bfd.2	+	12	1456	c.1184G>A	c.(1183-1185)CGG>CAG	p.R395Q	PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.R316Q|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.R307Q|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.R221Q|ARHGAP8_uc003bfi.2_Missense_Mutation_p.R185Q|ARHGAP8_uc010gzv.2_Missense_Mutation_p.R185Q|ARHGAP8_uc003bfj.2_Missense_Mutation_p.R216Q|ARHGAP8_uc003bfk.2_Missense_Mutation_p.R185Q|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						CCACCGCCGCGGCCCCCGCTG	0.647													A	45221431	G	A	45221431	3	1	264	1	0	0	0	0	1	0	0	0	12601	1116	39	1	958	1	PRR5-ARHGAP8	22	45221431	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	983696	45221431	6083135	1703	131221											
NUP50	10762	broad.mit.edu	37	chr22	45571860	45571860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggatttggtagtggcgCtggagggaagcctttggaag	17	5	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:45571860C>T	uc003bfr.2	+	4	701	c.239C>T	c.(238-240)GCT>GTT	p.A80V	NUP50_uc003bfs.2_Missense_Mutation_p.A52V|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Missense_Mutation_p.A52V|NUP50_uc011aqo.1_5'Flank	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	80	5 X 2 AA repeats of F-G.|Gly-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				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGTAGTGGCGCTGGAGGGAAG	0.512													T	45571860	C	T	45571860	3	4	264	1	0	0	0	0	1	0	0	0	10766	797	28	2	249	2	NUP50	22	45571860	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	350429	45571860	5732706	1704	131222											
CELSR1	9620	broad.mit.edu	37	chr22	46859644	46859644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggtgtagccgccctcGcggctgcggcagcggccgtt	16	15	0	0	rs150510873		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:46859644G>A	uc003bhw.1	-	2	4143	c.4143C>T	c.(4141-4143)CGC>CGT	p.R1381R		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1381	Extracellular (Potential).|EGF-like 2; 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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		AGCCGCCCTCGCGGCTGCGGC	0.687													A	46859644	G	A	46859644	2	1	264	1	0	0	0	0	0	0	0	1	3221	1074	38	1		1	CELSR1	22	46859644	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1287784	46859644	4444922	1705	131223											
TUBGCP6	85378	broad.mit.edu	37	chr22	50657780	50657780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtcagcaactcgctcAgctgcacagcagtctcatca	9	15	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50657780A>G	uc003bkb.1	-	19	4933	c.4421T>C	c.(4420-4422)CTG>CCG	p.L1474P	TUBGCP6_uc003bka.1_Missense_Mutation_p.L561P|TUBGCP6_uc010har.1_Missense_Mutation_p.L1466P|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1474					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		CAACTCGCTCAGCTGCACAGC	0.682													G	50657780	A	G	50657780	3	3	264	1	0	0	0	0	1	0	0	0	16767	188	7	3	1066	3	TUBGCP6	22	50657780	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3798136	50657780	646786	1706	131224											
SBF1	6305	broad.mit.edu	37	chr22	50900134	50900134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccggcagcaggcgcggcCgcagcagcttgggctgctcg	16	16	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50900134C>T	uc003blh.2	-	22	2852	c.2657G>A	c.(2656-2658)CGG>CAG	p.R886Q	SBF1_uc011arx.1_Missense_Mutation_p.R550Q|SBF1_uc003bli.2_Missense_Mutation_p.R887Q	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	886	GRAM.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		CAGGCGCGGCCGCAGCAGCTT	0.711													T	50900134	C	T	50900134	3	4	264	1	0	0	0	0	1	0	0	0	13858	652	23	1	3104	1	SBF1	22	50900134	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	242354	50900134	404432	1707	131225											
LMF2	91289	broad.mit.edu	37	chr22	50942064	50942064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggagacagctgagagCgagtccagtggagggcctgg	19	9	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50942064C>T	uc003blp.2	-	14	1911	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	LMF2_uc010hba.2_Missense_Mutation_p.R449H|LMF2_uc003blo.2_Missense_Mutation_p.R602H	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	627						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		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)		CAGCTGAGAGCGAGTCCAGTG	0.587													T	50942064	C	T	50942064	3	4	264	1	0	0	0	0	1	0	0	0	8846	768	27	1	247	1	LMF2	22	50942064	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	41930	50942064	362502	1708	131226											
TYMP	1890	broad.mit.edu	37	chr22	50967735	50967735	+	Missense_Mutation	SNP	T	T	C													cgaggtctcctccagatccaTgccccgaagtcggatggcca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50967735T>C	uc003bmb.3	-	2	367	c.247A>G	c.(247-249)ATG>GTG	p.M83V	TYMP_uc003bmc.3_Missense_Mutation_p.M83V|TYMP_uc003bmd.3_Missense_Mutation_p.M83V|TYMP_uc010hbd.2_Missense_Mutation_p.M83V|TYMP_uc003bme.3_Missense_Mutation_p.M83V|TYMP_uc003bmf.3_Missense_Mutation_p.M83V|TYMP_uc011arz.1_Missense_Mutation_p.M83V	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	83					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	TCCAGATCCATGCCCCGAAGT	0.682													C	50967735	T	C	50967735	3	2	264	1	0	0	0	0	1	0	0	0	16808	1464	51	3	1233	3	TYMP	22	50967735	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	25671	50967735	336831	1709	131227	671	2									
TYMP	1890	broad.mit.edu	37	chr22	50967741	50967741	+	Missense_Mutation	SNP	G	G	A													ctcctccagatccatgccccGaagtcggatggccatcagca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50967741G>A	uc003bmb.3	-	2	361	c.241C>T	c.(241-243)CGG>TGG	p.R81W	TYMP_uc003bmc.3_Missense_Mutation_p.R81W|TYMP_uc003bmd.3_Missense_Mutation_p.R81W|TYMP_uc010hbd.2_Missense_Mutation_p.R81W|TYMP_uc003bme.3_Missense_Mutation_p.R81W|TYMP_uc003bmf.3_Missense_Mutation_p.R81W|TYMP_uc011arz.1_Missense_Mutation_p.R81W	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	81					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	TCCATGCCCCGAAGTCGGATG	0.687													A	50967741	G	A	50967741	3	1	264	1	0	0	0	0	1	0	0	0	16808	1057	37	1	1239	1	TYMP	22	50967741	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	6	50967741	336825	1710	131228	671	2									
CPT1B	1375	broad.mit.edu	37	chr22	51012061	51012061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggcttgagcagacgggCgccctcatagagccacagct	13	13	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:51012061C>T	uc003bmk.3	-	9	1216	c.1054G>A	c.(1054-1056)GCC>ACC	p.A352T	CPT1B_uc003bml.2_Missense_Mutation_p.A352T|CPT1B_uc003bmm.2_Missense_Mutation_p.A352T|CPT1B_uc003bmo.2_Missense_Mutation_p.A352T|CPT1B_uc011asa.1_Missense_Mutation_p.A318T|CPT1B_uc003bmn.2_Missense_Mutation_p.A352T|CPT1B_uc011asb.1_Missense_Mutation_p.A352T|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.A149T	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	352	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		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;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGCAGACGGGCGCCCTCATAG	0.612													T	51012061	C	T	51012061	3	4	264	1	0	0	0	0	1	0	0	0	3832	768	27	1	1304	1	CPT1B	22	51012061	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	44320	51012061	292505	1711	131229											
PPP2R3B	28227	broad.mit.edu	37	chrX	299443	299443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggccgccgctgtcaccGtcctggaggaagcacacggg	16	14	1	0	rs138229897		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:299443G>A	uc004cpg.2	-	12	1674	c.1473C>T	c.(1471-1473)GAC>GAT	p.D491D	PPP2R3B_uc004cpf.2_Silent_p.D92D	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	491					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				0		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)				CGCTGTCACCGTCCTGGAGGA	0.537													A	299443	G	A	299443	2	1	264	1	0	0	0	0	0	0	0	1	12389	1136	40	1		1	PPP2R3B	23	299443	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08		299443	154971117	1712	131230											
PPP2R3B	28227	broad.mit.edu	37	chrX	302619	302619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgagccgtacgtaccGtgtgactgctcctgagaaga	13	12	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:302619G>A	uc004cpg.2	-	8	1285	c.1084C>T	c.(1084-1086)CGA>TGA	p.R362*	PPP2R3B_uc004cpf.2_5'Flank	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	362					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				0		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)				CGTACGTACCGTGTGACTGCT	0.617													A	302619	G	A	302619	4	1	264	1	0	0	0	0	0	1	0	0	12389	1159	40	1	667	1	PPP2R3B	23	302619	Nonsense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3176	302619	154967941	1713	131231											
MXRA5	25878	broad.mit.edu	37	chrX	3240888	3240888	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgatccaacatctgcTgcagaccaaccctctgttgc	9	14	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:3240888T>C	uc004crg.3	-	5	2995	c.2838A>G	c.(2836-2838)GCA>GCG	p.A946A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	946						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAACATCTGCTGCAGACCAAC	0.498													C	3240888	T	C	3240888	2	2	264	1	0	0	0	0	0	0	0	1	10003	1567	55	3		3	MXRA5	23	3240888	Silent	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	2938269	3240888	152029672	1714	131232											
ATXN3L	92552	broad.mit.edu	37	chrX	13337421	13337421	+	Frame_Shift_Del	DEL	T	T	-													tcatcactttcttctgatacTttttcaaggactgttttata							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:13337420_13337420CT>C	uc010ned.3	-	0	1099	c.634_634AG>G	c.(634-636)gtafs	p.V212fs		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	212					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCTTCTGATACTTTTTCAAGG	0.383													-	13337421	T	-	13337421	7	5	264	1	0	1	0	1	0	0	0	0	1214	1606	56	0	438	0	ATXN3L	23	13337421	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	10096533	13337421	141933139	1715	131233											
OFD1	8481	broad.mit.edu	37	chrX	13764538	13764538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatgagtataagagagaAatagaagagcaacttcgggc	11	5	0	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:13764538A>C	uc004cvp.3	+	7	977	c.618A>C	c.(616-618)GAA>GAC	p.E206D	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.E66D|OFD1_uc010nen.2_Missense_Mutation_p.E205D|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.E205D|OFD1_uc004cvv.3_Missense_Mutation_p.E205D|OFD1_uc010neo.1_5'UTR	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	206	Potential.				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				0						ATAAGAGAGAAATAGAAGAGC	0.358													C	13764538	A	C	13764538	3	2	264	1	0	0	0	0	1	0	0	0	10838	11	1	5	644	5	OFD1	23	13764538	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	427117	13764538	141506022	1716	131234											
FANCB	2187	broad.mit.edu	37	chrX	14863040	14863041	+	Frame_Shift_Ins	INS	-	-	A													tgaaagatcttctagacttaINSaaaaaactctgccacacaca							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:14863039_14863040T>TA	uc004cwg.1	-	7	2133_2134	c.1865_1866A>TA	c.(1864-1866)ttafs	p.L622fs	FANCB_uc004cwh.1_Frame_Shift_Ins_p.L622fs	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	622					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)					CTTCTAGACTTAAAAAAACTCT	0.332								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	14863041	-	A	14863040	7	5	264	1	0	1	1	0	0	0	0	0	5663	372	13	0	726	0	FANCB	23	14863040	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	1098502	14863040	140407520	1717	131235											
BEND2	139105	broad.mit.edu	37	chrX	18192292	18192292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatccaagaacagccttcAccaccatctctgcccctttg	4	17	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:18192292A>G	uc004cyj.3	-	12	1993	c.1839T>C	c.(1837-1839)GGT>GGC	p.G613G	BEND2_uc010nfb.2_Silent_p.G522G	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	613										ovary(3)|kidney(1)|central_nervous_system(1)	5						AACAGCCTTCACCACCATCTC	0.428													G	18192292	A	G	18192292	2	3	264	1	0	0	0	0	0	0	0	1	1398	146	6	3		3	BEND2	23	18192292	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	3329252	18192292	137078268	1718	131236											
KLHL34	257240	broad.mit.edu	37	chrX	21674642	21674642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagcctctcgcccaccGcgccgcaccagaagtgggcc	12	19	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:21674642G>A	uc004czz.1	-	1	1807	c.1265C>T	c.(1264-1266)GCG>GTG	p.A422V		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	422	Kelch 2.									ovary(1)	1						CTCGCCCACCGCGCCGCACCA	0.731													A	21674642	G	A	21674642	3	1	264	1	0	0	0	0	1	0	0	0	8387	1087	38	1	673	1	KLHL34	23	21674642	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3482350	21674642	133595918	1719	131237											
MAGEB6	158809	broad.mit.edu	37	chrX	26212529	26212529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagccatcatttttaagcGcttaagcaaagatgctgtaa	8	7	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:26212529G>A	uc004dbr.2	+	2	715	c.566G>A	c.(565-567)CGC>CAC	p.R189H	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	189										ovary(3)	3						ATTTTTAAGCGCTTAAGCAAA	0.468													A	26212529	G	A	26212529	3	1	264	1	0	0	0	0	1	0	0	0	9179	1087	38	1	568	1	MAGEB6	23	26212529	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4537887	26212529	129058031	1720	131238											
MAGEB2	4113	broad.mit.edu	37	chrX	30236743	30236743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgcccgtgagaaacgcCgcaaggcccgagatgagacc	13	14	0	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:30236743C>T	uc004dbz.2	+	2	149	c.46C>T	c.(46-48)CGC>TGC	p.R16C		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	16							protein binding			ovary(1)	1						TGAGAAACGCCGCAAGGCCCG	0.547													T	30236743	C	T	30236743	3	4	264	1	0	0	0	0	1	0	0	0	9176	652	23	1	48	1	MAGEB2	23	30236743	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4024214	30236743	125033817	1721	131239											
CASK	8573	broad.mit.edu	37	chrX	41712439	41712439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagcaaattgttgcccaGtttctctgttgatacatcgt	7	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:41712439G>A	uc004dfl.3	-	2	147	c.101C>T	c.(100-102)ACT>ATT	p.T34I	CASK_uc004dfm.3_Missense_Mutation_p.T34I|CASK_uc004dfn.3_Missense_Mutation_p.T34I	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	34	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						TTGTTGCCCAGTTTCTCTGTT	0.348													A	41712439	G	A	41712439	3	1	264	1	0	0	0	0	1	0	0	0	2665	1029	36	4	2783	4	CASK	23	41712439	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	11475696	41712439	113558121	1722	131240											
PHF16	9767	broad.mit.edu	37	chrX	46913989	46913989	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaggaaagcattcacactCgaatgagaatgtttatgcat	9	6	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:46913989C>T	uc004dgx.2	+	9	1453	c.1402C>T	c.(1402-1404)CGA>TGA	p.R468*	PHF16_uc004dgy.2_Nonsense_Mutation_p.R468*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	468					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						CATTCACACTCGAATGAGAAT	0.463													T	46913989	C	T	46913989	4	4	264	1	0	0	0	0	0	1	0	0	11827	876	31	1	1432	1	PHF16	23	46913989	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	5201550	46913989	108356571	1723	131241											
PHF16	9767	broad.mit.edu	37	chrX	46918475	46918475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacagttcaatgcaaaGgtgattagaaacttccaagg	8	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:46918475G>T	uc004dgx.2	+	11	2519	c.2468G>T	c.(2467-2469)AGG>ATG	p.R823M	PHF16_uc004dgy.2_Missense_Mutation_p.R823M	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	823					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						TCAATGCAAAGGTGATTAGAA	0.438													T	46918475	G	T	46918475	3	4	264	1	0	0	0	0	1	0	0	0	11827	1000	35	5	2506	5	PHF16	23	46918475	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4486	46918475	108352085	1724	131242											
RBM10	8241	broad.mit.edu	37	chrX	47038780	47038780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacactgccactgggtggcCgggagctgagccagggcctg	17	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:47038780C>T	uc004dhf.2	+	9	1166	c.787C>T	c.(787-789)CGG>TGG	p.R263W	RBM10_uc004dhg.2_Missense_Mutation_p.R186W|RBM10_uc004dhh.2_Missense_Mutation_p.R263W|RBM10_uc010nhq.2_Missense_Mutation_p.R186W|RBM10_uc004dhi.2_Missense_Mutation_p.R328W	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	263					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						ACTGGGTGGCCGGGAGCTGAG	0.677													T	47038780	C	T	47038780	3	4	264	1	0	0	0	0	1	0	0	0	13111	643	23	1	817	1	RBM10	23	47038780	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	120305	47038780	108231780	1725	131243											
ZNF81	347344	broad.mit.edu	37	chrX	47775019	47775019	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatatatctgagagttcataGagatgaaaaactctacatat	6	5	3	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:47775019G>A	uc010nhy.1	+	6	1342	c.974G>A	c.(973-975)AGA>AAA	p.R325K		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	325						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				AGAGTTCATAGAGATGAAAAA	0.343													A	47775019	G	A	47775019	3	1	264	1	0	0	0	0	1	0	0	0	18171	942	33	4	988	4	ZNF81	23	47775019	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	736239	47775019	107495541	1726	131244											
SSX1	6756	broad.mit.edu	37	chrX	48117223	48117223	+	Frame_Shift_Del	DEL	A	A	-													acttctctaagaaagagtggAaaaagatgaaatactcggag							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:48117222_48117222GA>G	uc004djb.1	+	2	202	c.111_111GA>G	c.(109-111)tggfs	p.W37fs		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	37	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						AGAAAGAGTGGAAAAAGATGA	0.348			T	SS18	synovial sarcoma								-	48117223	A	-	48117223	7	5	264	1	0	1	0	1	0	0	0	0	15202	247	9	0	118	0	SSX1	23	48117223	Frame_Shift_Del	DEL	A	TCGA-HU-A4G8-01A-11D-A25D-08	342204	48117223	107153337	1727	131245											
TFE3	7030	broad.mit.edu	37	chrX	48887952	48887953	+	Frame_Shift_Ins	INS	-	-	C													gggagcattctgggcaggtcINSccccccctacatggaacgtt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:48887951_48887952T>TC	uc004dmb.3	-	9	1683_1684	c.1445_1446A>GA	c.(1444-1446)ggafs	p.G482fs	TFE3_uc004dmc.3_Frame_Shift_Ins_p.G377fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								C	48887953	-	C	48887952	7	5	264	1	0	1	1	0	0	0	0	0	15797	855	30	0	286	0	TFE3	23	48887952	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	770729	48887952	106382608	1728	131246											
CCNB3	85417	broad.mit.edu	37	chrX	50052225	50052225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaatcattggccttGcagaagaccaactttaaaga	8	7	1	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:50052225G>A	uc004dox.3	+	6	1354	c.1056G>A	c.(1054-1056)TTG>TTA	p.L352L	CCNB3_uc004doy.2_Silent_p.L352L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	352					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CATTGGCCTTGCAGAAGACCA	0.428													A	50052225	G	A	50052225	2	1	264	1	0	0	0	0	0	0	0	1	2914	1310	46	2		2	CCNB3	23	50052225	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1164273	50052225	105218335	1729	131247											
SHROOM4	57477	broad.mit.edu	37	chrX	50350982	50350982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgagaaggcacggctgcGcagtgggtggggcatggagg	20	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:50350982G>A	uc004dpe.2	-	6	3186	c.3160C>T	c.(3160-3162)CGC>TGC	p.R1054C	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1054					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GCACGGCTGCGCAGTGGGTGG	0.552													A	50350982	G	A	50350982	3	1	264	1	0	0	0	0	1	0	0	0	14296	1087	38	1	1337	1	SHROOM4	23	50350982	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	298757	50350982	104919578	1730	131248											
KDM5C	8242	broad.mit.edu	37	chrX	53231107	53231107	+	Frame_Shift_Del	DEL	G	G	-													gaagccgctgtggtaagcacGggggaaggtgatgacaaact							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:53231106_53231106CG>C	uc004drz.3	-	12	2329	c.1796_1796CG>G	c.(1795-1797)cgtfs	p.R599fs	KDM5C_uc022bxe.1_Frame_Shift_Del_p.R532fs|KDM5C_uc004dsa.3_Frame_Shift_Del_p.R598fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	599	JmjC.				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						GTGGTAAGCACGGGGGAAGGT	0.512			"N, F, S"		clear cell renal carcinoma								-	53231107	G	-	53231107	7	5	264	1	0	1	0	1	0	0	0	0	8135	1116	39	0	3041	0	KDM5C	23	53231107	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	2880125	53231107	102039453	1731	131249											
SMC1A	8243	broad.mit.edu	37	chrX	53426556	53426556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttttttcactgtctgCtcccacatgtgtactttatc	4	12	4	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:53426556C>T	uc004dsg.2	-	16	2586	c.2517G>A	c.(2515-2517)GAG>GAA	p.E839E	SMC1A_uc011moe.1_Silent_p.E817E	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	839	Potential.				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			ovary(5)|central_nervous_system(1)	6						TCACTGTCTGCTCCCACATGT	0.383													T	53426556	C	T	53426556	2	4	264	1	0	0	0	0	0	0	0	1	14781	796	28	2		2	SMC1A	23	53426556	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	195449	53426556	101844004	1732	131250											
PFKFB1	5207	broad.mit.edu	37	chrX	54971960	54971960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggatttcttcataggtcAtctcctcacagacaccctga	6	14	5	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:54971960A>G	uc004dty.1	-	10	1081	c.1010T>C	c.(1009-1011)ATG>ACG	p.M337T	PFKFB1_uc010nkd.1_Missense_Mutation_p.M145T|PFKFB1_uc011mol.1_Missense_Mutation_p.M272T	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	337	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TTCATAGGTCATCTCCTCACA	0.428													G	54971960	A	G	54971960	3	3	264	1	0	0	0	0	1	0	0	0	11760	217	8	3	425	3	PFKFB1	23	54971960	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	1545404	54971960	100298600	1733	131251											
MAGEH1	28986	broad.mit.edu	37	chrX	55479176	55479176	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttaggaatgcagcctggAcgtcagcacagcatctttgg	12	9	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:55479176A>C	uc004dum.2	+	1	639	c.369A>C	c.(367-369)GGA>GGC	p.G123G		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	123	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TGCAGCCTGGACGTCAGCACA	0.522													C	55479176	A	C	55479176	2	2	264	1	0	0	0	0	0	0	0	1	9188	262	10	5		5	MAGEH1	23	55479176	Silent	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	507216	55479176	99791384	1734	131252											
LAS1L	81887	broad.mit.edu	37	chrX	64743993	64743993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggatgtaggtaggccGgatcccgctgatccccaagg	14	11	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:64743993G>A	uc004dwa.1	-	10	1315	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	LAS1L_uc004dwc.1_Missense_Mutation_p.R398W|LAS1L_uc004dwd.1_Missense_Mutation_p.R356W	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	415						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						TAGGTAGGCCGGATCCCGCTG	0.612													A	64743993	G	A	64743993	3	1	264	1	0	0	0	0	1	0	0	0	8636	1115	39	1	981	1	LAS1L	23	64743993	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9264817	64743993	90526567	1735	131253											
NLGN3	54413	broad.mit.edu	37	chrX	70367787	70367787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accactgcccagtgagatccTggggcctgtggaccaatacc	11	14	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70367787T>C	uc004dzd.1	+	1	388	c.188T>C	c.(187-189)CTG>CCG	p.L63P	NLGN3_uc010nlb.1_Missense_Mutation_p.L63P|NLGN3_uc004dzb.2_Missense_Mutation_p.L63P|NLGN3_uc004dzc.2_Intron|NLGN3_uc011mps.1_Missense_Mutation_p.L63P|NLGN3_uc011mpr.1_Missense_Mutation_p.L63P	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	63	Extracellular (Potential).				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			ovary(1)	1	Renal(35;0.156)					AGTGAGATCCTGGGGCCTGTG	0.637													C	70367787	T	C	70367787	3	2	264	1	0	0	0	0	1	0	0	0	10463	1580	55	3	190	3	NLGN3	23	70367787	Missense_Mutation	SNP	T	TCGA-HU-A4G8-01A-11D-A25D-08	5623794	70367787	84902773	1736	131254											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70523125	70523125	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccctaggtcagagttgcctCtgaagctgctgccgctaaat	10	13	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70523125C>A	uc004dzr.1	+	5	360	c.331C>A	c.(331-333)CTG>ATG	p.L111M	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.L93M	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	111					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					AGAGTTGCCTCTGAAGCTGCT	0.483													A	70523125	C	A	70523125	3	1	264	1	0	0	0	0	1	0	0	0	7892	912	32	5	349	5	ITGB1BP2	23	70523125	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	155338	70523125	84747435	1737	131255											
TAF1	6872	broad.mit.edu	37	chrX	70674047	70674047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcagtatactaagactgCccaggagattgtgaacgtct	11	8	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70674047C>T	uc004dzu.3	+	33	4829	c.4778C>T	c.(4777-4779)GCC>GTC	p.A1593V	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.A1614V|TAF1_uc004dzv.3_Missense_Mutation_p.A767V|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.A18V|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1593	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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ACTAAGACTGCCCAGGAGATT	0.333													T	70674047	C	T	70674047	3	4	264	1	0	0	0	0	1	0	0	0	15510	739	26	2	4971	2	TAF1	23	70674047	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	150922	70674047	84596513	1738	131256											
OGT	8473	broad.mit.edu	37	chrX	70787462	70787463	+	Frame_Shift_Ins	INS	-	-	T													ctgccccagaaccgtatcatINStttttcacctgttgctccta							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70787461_70787462A>AT	uc004eaa.2	+	19	2939_2940	c.2701_2702A>AT	c.(2701-2703)attfs	p.I901fs	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Frame_Shift_Ins_p.I891fs|OGT_uc004eac.3_Frame_Shift_Ins_p.I762fs|OGT_uc004ead.3_Frame_Shift_Ins_p.I520fs	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	901					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	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			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)					GAACCGTATCATTTTTTCACCT	0.495													T	70787463	-	T	70787462	7	5	264	1	0	1	1	0	0	0	0	0	10847	1493	52	0	2780	0	OGT	23	70787462	Frame_Shift_Ins	INS	-	TCGA-HU-A4G8-01A-11D-A25D-08	113415	70787462	84483098	1739	131257											
ACRC	93953	broad.mit.edu	37	chrX	70823607	70823607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgattcggaagctcctgaCgacaacagtgatgattcgga	12	8	0	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70823607C>T	uc004eae.2	+	8	981	c.480C>T	c.(478-480)GAC>GAT	p.D160D	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	160	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					AAGCTCCTGACGACAACAGTG	0.493													T	70823607	C	T	70823607	2	4	264	1	0	0	0	0	0	0	0	1	171	535	19	1		1	ACRC	23	70823607	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	36145	70823607	84446953	1740	131258											
ABCB7	22	broad.mit.edu	37	chrX	74296377	74296377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaatcagaactgctgttGccatggttgcaactgtattt	9	9	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:74296377G>A	uc004eca.2	-	5	591	c.566C>T	c.(565-567)GCA>GTA	p.A189V	ABCB7_uc004ebz.2_Missense_Mutation_p.A190V|ABCB7_uc011mqn.1_Missense_Mutation_p.A163V|ABCB7_uc010nls.2_Missense_Mutation_p.A150V|ABCB7_uc010nlt.2_Missense_Mutation_p.A149V	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	189	ABC transmembrane type-1.|Helical; (Potential).				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						AACTGCTGTTGCCATGGTTGC	0.423													A	74296377	G	A	74296377	3	1	264	1	0	0	0	0	1	0	0	0	46	1319	46	2	1740	2	ABCB7	23	74296377	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3472770	74296377	80974183	1741	131259											
ATRX	546	broad.mit.edu	37	chrX	76918921	76918921	+	Frame_Shift_Del	DEL	T	T	-													tatgctctttaggctttgtcTttttttcttctccagattct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:76918920_76918920CT>C	uc004ecp.4	-	11	4303	c.4071_4071AG>G	c.(4069-4071)aagfs	p.K1357fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1319fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1142fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1289fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1357					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	TAGGCTTTGTCTTTTTTTCTT	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76918921	T	-	76918921	7	5	264	1	0	1	0	1	0	0	0	0	1208	1609	56	0	3504	0	ATRX	23	76918921	Frame_Shift_Del	DEL	T	TCGA-HU-A4G8-01A-11D-A25D-08	2622544	76918921	78351639	1742	131260											
CYLC1	1538	broad.mit.edu	37	chrX	83129239	83129239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaggttcaaagaaagAtatcaagaaggatgcaagaa	10	3	2	5			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:83129239A>G	uc004eei.1	+	4	1544	c.1523A>G	c.(1522-1524)GAT>GGT	p.D508G	CYLC1_uc004eeh.1_Missense_Mutation_p.D507G	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	508	7.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TCAAAGAAAGATATCAAGAAG	0.348													G	83129239	A	G	83129239	3	3	264	1	0	0	0	0	1	0	0	0	4141	333	12	3	1537	3	CYLC1	23	83129239	Missense_Mutation	SNP	A	TCGA-HU-A4G8-01A-11D-A25D-08	6210318	83129239	72141321	1743	131261											
KLHL4	56062	broad.mit.edu	37	chrX	86877405	86877405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttcttacatcagactGccattactcccaccacaggt	5	15	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:86877405G>A	uc004efb.2	+	5	1301	c.1119G>A	c.(1117-1119)CTG>CTA	p.L373L	KLHL4_uc004efa.2_Silent_p.L373L	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	373						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ACATCAGACTGCCATTACTCC	0.408													A	86877405	G	A	86877405	2	1	264	1	0	0	0	0	0	0	0	1	8391	1306	46	2		2	KLHL4	23	86877405	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	3748166	86877405	68393155	1744	131262											
KLHL4	56062	broad.mit.edu	37	chrX	86890617	86890617	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcaaatcaatggaataCtttgacccacacactaacaa	4	12	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:86890617C>A	uc004efb.2	+	9	1949	c.1767C>A	c.(1765-1767)TAC>TAA	p.Y589*	KLHL4_uc004efa.2_Nonsense_Mutation_p.Y589*	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	589	Kelch 4.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAATGGAATACTTTGACCCAC	0.398													A	86890617	C	A	86890617	4	1	264	1	0	0	0	0	0	1	0	0	8391	576	20	5	1801	5	KLHL4	23	86890617	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	13212	86890617	68379943	1745	131263											
PCDH11X	27328	broad.mit.edu	37	chrX	91090524	91090524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacttgttgtccgggacGtacattttcgcggtcctgct	12	10	0	0	rs138686525	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:91090524G>A	uc004efk.1	+	1	866	c.21G>A	c.(19-21)ACG>ACA	p.T7T	PCDH11X_uc004efl.1_Silent_p.T7T|PCDH11X_uc004efo.1_Silent_p.T7T|PCDH11X_uc010nmv.1_Silent_p.T7T|PCDH11X_uc004efm.1_Silent_p.T7T|PCDH11X_uc004efn.1_Silent_p.T7T|PCDH11X_uc004efh.1_Silent_p.T7T|PCDH11X_uc004efj.1_Silent_p.T7T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	7					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TGTCCGGGACGTACATTTTCG	0.483													A	91090524	G	A	91090524	2	1	264	1	0	0	0	0	0	0	0	1	11508	1132	40	1		1	PCDH11X	23	91090524	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	4199907	91090524	64180036	1746	131264											
TIMM8A	1678	broad.mit.edu	37	chrX	100603603	100603603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgatgaaatgctgcaactgcGggtccactgcacccaaaccc	9	15	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:100603603G>T	uc004ehd.2	-	1	355	c.50C>A	c.(49-51)CCG>CAG	p.P17Q	TIMM8A_uc011mri.1_Missense_Mutation_p.P17Q	NM_004085	NP_004076	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8	17					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding				0						CTGCAACTGCGGGTCCACTGC	0.592													T	100603603	G	T	100603603	3	4	264	1	0	0	0	0	1	0	0	0	15911	1116	39	5	270	5	TIMM8A	23	100603603	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9513079	100603603	54666957	1747	131265											
FAM199X	139231	broad.mit.edu	37	chrX	103432971	103432971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcaagtgcagcagagcGgattcgggattcaaaagtaa	13	7	2	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:103432971G>A	uc004elw.2	+	5	1146	c.980G>A	c.(979-981)CGG>CAG	p.R327Q	FAM199X_uc004elx.2_Intron	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	327										ovary(1)	1						GCAGCAGAGCGGATTCGGGAT	0.403													A	103432971	G	A	103432971	3	1	264	1	0	0	0	0	1	0	0	0	5530	1116	39	1	998	1	FAM199X	23	103432971	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	2829368	103432971	51837589	1748	131266											
RNF128	79589	broad.mit.edu	37	chrX	106038898	106038898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccaacctttgaagaagaCgaaactcctaatcaagagac	6	11	1	4			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:106038898C>T	uc004eml.2	+	7	1492	c.1242C>T	c.(1240-1242)GAC>GAT	p.D414D	RNF128_uc004emk.2_Silent_p.D388D	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	414						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTGAAGAAGACGAAACTCCTA	0.358													T	106038898	C	T	106038898	2	4	264	1	0	0	0	0	0	0	0	1	13436	535	19	1		1	RNF128	23	106038898	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2605927	106038898	49231662	1749	131267											
AMMECR1	9949	broad.mit.edu	37	chrX	109561246	109561246	+	Frame_Shift_Del	DEL	G	G	-													ccaccgccacccgagccagaGgggggcgaactggacagttt							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:109561246delG	uc004eoo.2	-	1	135	c.54delC	c.(52-54)CCCfs	p.P18fs	AMMECR1_uc004eop.2_Frame_Shift_Del_p.P18fs|AMMECR1_uc004eoq.2_Intron	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	18											0						CCGAGCCAGAGGGGGGCGAAC	0.672													-	109561246	G	-	109561246	7	5	264	1	0	1	0	1	0	0	0	0	578	987	35	0	971	0	AMMECR1	23	109561246	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	3522348	109561246	45709314	1750	131268											
DCX	1641	broad.mit.edu	37	chrX	110574229	110574229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttggggatgcctttggGccagctgtggctgatgggtt	19	6	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:110574229G>A	uc004epd.2	-	5	1264	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	DCX_uc011msv.1_Silent_p.G364G|DCX_uc004epe.2_Silent_p.G283G|DCX_uc004epf.2_Silent_p.G283G|DCX_uc004epg.2_Silent_p.G283G	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	364					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						ATGCCTTTGGGCCAGCTGTGG	0.537													A	110574229	G	A	110574229	2	1	264	1	0	0	0	0	0	0	0	1	4318	1190	42	2		2	DCX	23	110574229	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	1012983	110574229	44696331	1751	131269											
TRPC5	7224	broad.mit.edu	37	chrX	111155847	111155847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcgggagcgagagtggCgcaggctgtctacctctgaa	15	10	3	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:111155847C>T	uc004epl.1	-	3	1491	c.572G>A	c.(571-573)CGC>CAC	p.R191H	TRPC5_uc004epm.1_Missense_Mutation_p.R191H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	191	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCGAGAGTGGCGCAGGCTGTC	0.547													T	111155847	C	T	111155847	3	4	264	1	0	0	0	0	1	0	0	0	16579	768	27	1	2385	1	TRPC5	23	111155847	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	581618	111155847	44114713	1752	131270											
NKAP	79576	broad.mit.edu	37	chrX	119077561	119077561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgtgagccggacaccGgagccatggctactgggggg	19	11	0	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:119077561G>A	uc004esh.2	-	1	175	c.8C>T	c.(7-9)CCG>CTG	p.P3L		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	3					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			ovary(2)	2						GCCGGACACCGGAGCCATGGC	0.682													A	119077561	G	A	119077561	3	1	264	1	0	0	0	0	1	0	0	0	10439	1116	39	1	1275	1	NKAP	23	119077561	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	7921714	119077561	36192999	1753	131271											
STAG2	10735	broad.mit.edu	37	chrX	123217306	123217306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttaaagagcctaatcCgcaaggggagagccatccac	10	11	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:123217306C>A	uc004etz.3	+	28	3299	c.2960C>A	c.(2959-2961)CCG>CAG	p.P987Q	STAG2_uc004eua.2_Missense_Mutation_p.P987Q|STAG2_uc004eub.2_Missense_Mutation_p.P987Q|STAG2_uc004euc.2_Missense_Mutation_p.P987Q|STAG2_uc004eud.2_Missense_Mutation_p.P987Q|STAG2_uc004eue.2_Missense_Mutation_p.P987Q	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	987					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GAGCCTAATCCGCAAGGGGAG	0.318													A	123217306	C	A	123217306	3	1	264	1	0	0	0	0	1	0	0	0	15242	652	23	5	3066	5	STAG2	23	123217306	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	4139745	123217306	32053254	1754	131272											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685932	125685932	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtccgggtccatccgCcacagcgccacagtgccgtc	10	17	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:125685932C>T	uc004eul.2	-	1	911	c.660G>A	c.(658-660)TGG>TGA	p.W220*		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	220	WD 2.									skin(3)|ovary(1)	4						GGTCCATCCGCCACAGCGCCA	0.652													T	125685932	C	T	125685932	4	4	264	1	0	0	0	0	0	1	0	0	4264	740	26	2	735	2	DCAF12L1	23	125685932	Nonsense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	2468626	125685932	29584628	1755	131273											
SASH3	54440	broad.mit.edu	37	chrX	128914080	128914080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtggaggaccatgctgCgccgcaagccctccaatgcc	13	15	0	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:128914080C>T	uc011mun.1	+	1	189	c.7C>T	c.(7-9)CGC>TGC	p.R3C	SASH3_uc004euu.2_Missense_Mutation_p.R3C	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	3										ovary(2)|pancreas(1)	3						GACCATGCTGCGCCGCAAGCC	0.582													T	128914080	C	T	128914080	3	4	264	1	0	0	0	0	1	0	0	0	13849	768	27	1	9	1	SASH3	23	128914080	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	3228148	128914080	26356480	1756	131274											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga					rs137862942		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:129190011delC	uc004evb.1	+	13	5150	c.5036delC	c.(5035-5037)TCCfs	p.S1679fs	BCORL1_uc004evc.1_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GACGACAGATCCCCCCCAGGC	0.602													-	129190011	C	-	129190011	7	5	264	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-HU-A4G8-01A-11D-A25D-08	275931	129190011	26080549	1757	131275											
RAB33A	9363	broad.mit.edu	37	chrX	129318570	129318570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccaaagagagccagaaCgtggagtcgattttcatgtg	12	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:129318570C>T	uc004evl.2	+	2	834	c.570C>T	c.(568-570)AAC>AAT	p.N190N	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	190					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						AGAGCCAGAACGTGGAGTCGA	0.527													T	129318570	C	T	129318570	2	4	264	1	0	0	0	0	0	0	0	1	12922	535	19	1		1	RAB33A	23	129318570	Silent	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	128559	129318570	25951990	1758	131276											
IGSF1	3547	broad.mit.edu	37	chrX	130419315	130419315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtaatccacaggctctgCatatccctctttaaacagca	6	12	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:130419315C>T	uc004ewd.2	-	5	743	c.505G>A	c.(505-507)GCA>ACA	p.A169T	IGSF1_uc004ewe.3_Missense_Mutation_p.A158T|IGSF1_uc004ewf.2_Missense_Mutation_p.A149T|IGSF1_uc004ewg.2_Missense_Mutation_p.A169T	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	169	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						ACAGGCTCTGCATATCCCTCT	0.502													T	130419315	C	T	130419315	3	4	264	1	0	0	0	0	1	0	0	0	7596	710	25	2	3646	2	IGSF1	23	130419315	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	1100745	130419315	24851245	1759	131277											
SOX3	6658	broad.mit.edu	37	chrX	139586638	139586638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccttcatgtgcacggcGcgaagtcgcttggcctcgtc	11	14	1	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:139586638G>A	uc004fbd.1	-	1	588	c.588C>T	c.(586-588)CGC>CGT	p.R196R		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	196	HMG box.				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			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					TGTGCACGGCGCGAAGTCGCT	0.587													A	139586638	G	A	139586638	2	1	264	1	0	0	0	0	0	0	0	1	14951	1074	38	1		1	SOX3	23	139586638	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	9167323	139586638	15683922	1760	131278											
CNGA2	1260	broad.mit.edu	37	chrX	150907032	150907032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctcctgccatcaaggCcaatggcaaagatgaccaca	8	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:150907032C>T	uc004fey.1	+	2	301	c.77C>T	c.(76-78)GCC>GTC	p.A26V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	26	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATCAAGGCCAATGGCAAA	0.502													T	150907032	C	T	150907032	3	4	264	1	0	0	0	0	1	0	0	0	3597	739	26	2	79	2	CNGA2	23	150907032	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	11320394	150907032	4363528	1761	131279											
GABRQ	55879	broad.mit.edu	37	chrX	151815583	151815583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatgtgactgtggagaatCgcgtgtttcagcttcaccca	11	9	2	3			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:151815583C>T	uc004ffp.1	+	4	501	c.481C>T	c.(481-483)CGC>TGC	p.R161C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	161	Extracellular (Potential).					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			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGAGAATCGCGTGTTTCA	0.542													T	151815583	C	T	151815583	3	4	264	1	0	0	0	0	1	0	0	0	6175	884	31	1	495	1	GABRQ	23	151815583	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	908551	151815583	3454977	1762	131280											
MAGEA1	4100	broad.mit.edu	37	chrX	152482579	152482579	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggactcagaggctttgccGaagatctcaggaaaacagtg	12	8	2	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:152482579G>A	uc004fhf.2	-	3	652	c.432C>T	c.(430-432)TTC>TTT	p.F144F		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	144	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTTGCCGAAGATCTCAG	0.507													A	152482579	G	A	152482579	2	1	264	1	0	0	0	0	0	0	0	1	9163	1049	37	1		1	MAGEA1	23	152482579	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	666996	152482579	2787981	1763	131281											
TREX2	11219	broad.mit.edu	37	chrX	152710780	152710780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttctccagggaggagcGgtggacagcaaagagggaca	18	8	1	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:152710780G>A	uc010nue.1	-	3	351	c.235C>T	c.(235-237)CGC>TGC	p.R79C	TREX2_uc010nud.1_Missense_Mutation_p.R37C|TREX2_uc011myp.1_Missense_Mutation_p.R37C|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	80					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGGAGCGGTGGACAGCA	0.657								Editing_and_processing_nucleases					A	152710780	G	A	152710780	3	1	264	1	0	0	0	0	1	0	0	0	16474	1116	39	1	604	1	TREX2	23	152710780	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	228201	152710780	2559780	1764	131282											
ATP2B3	492	broad.mit.edu	37	chrX	152845747	152845747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccacagcgtggagacGtccctctaacaagaacttgt	9	14	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:152845747G>A	uc004fht.1	+	20	3780	c.3654G>A	c.(3652-3654)ACG>ACA	p.T1218T	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.T355T|ATP2B3_uc004fhu.1_Silent_p.T170T	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1218	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGTGGAGACGTCCCTCTAAC	0.383													A	152845747	G	A	152845747	2	1	264	1	0	0	0	0	0	0	0	1	1141	1132	40	1		1	ATP2B3	23	152845747	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	134967	152845747	2424813	1765	131283											
L1CAM	3897	broad.mit.edu	37	chrX	153128217	153128217	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgccactgtactggccaatGaacgaaccatcctcgttgaa	8	12	0	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153128217G>A	uc004fjb.2	-	28	3783	c.3675C>T	c.(3673-3675)TTC>TTT	p.F1225F	L1CAM_uc004fjc.2_Silent_p.F1221F|L1CAM_uc010nuo.2_Silent_p.F1216F	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1225	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					ACTGGCCAATGAACGAACCAT	0.597													A	153128217	G	A	153128217	2	1	264	1	0	0	0	0	0	0	0	1	8588	1281	45	4		4	L1CAM	23	153128217	Silent	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	282470	153128217	2142343	1766	131284											
L1CAM	3897	broad.mit.edu	37	chrX	153135085	153135085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaggatcagggcgccaCgctgaatccggtacttctgg	13	12	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153135085C>T	uc004fjb.2	-	10	1265	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H	L1CAM_uc004fjc.2_Missense_Mutation_p.R386H|L1CAM_uc010nuo.2_Missense_Mutation_p.R381H|L1CAM_uc004fjd.1_Missense_Mutation_p.R200H	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	386	Extracellular (Potential).|Ig-like C2-type 4.		R -> C (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					CAGGGCGCCACGCTGAATCCG	0.622													T	153135085	C	T	153135085	3	4	264	1	0	0	0	0	1	0	0	0	8588	536	19	1	2692	1	L1CAM	23	153135085	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	6868	153135085	2135475	1767	131285											
FLNA	2316	broad.mit.edu	37	chrX	153588685	153588685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacttgactttggatgCgtcaaagcagggaaccacgt	12	9	1	2			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153588685C>T	uc004fkk.2	-	22	3727	c.3478G>A	c.(3478-3480)GCA>ACA	p.A1160T	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1160T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1160	Filamin 10.				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)					ACTTTGGATGCGTCAAAGCAG	0.652											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	153588685	C	T	153588685	3	4	264	1	0	0	0	0	1	0	0	0	5933	768	27	1	4573	1	FLNA	23	153588685	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	453600	153588685	1681875	1768	131286											
ATP6AP1	537	broad.mit.edu	37	chrX	153660654	153660654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactggtgcttcctgccGtcgactggtatgcagtcagc	11	14	2	0			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153660654G>A	uc004flf.1	+	4	467	c.406G>A	c.(406-408)GTC>ATC	p.V136I	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.V96I	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	136					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			ovary(3)|breast(1)	4	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)					GCTTCCTGCCGTCGACTGGTA	0.647											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	153660654	G	A	153660654	3	1	264	1	0	0	0	0	1	0	0	0	1165	1145	40	1	420	1	ATP6AP1	23	153660654	Missense_Mutation	SNP	G	TCGA-HU-A4G8-01A-11D-A25D-08	71969	153660654	1609906	1769	131287											
PLXNA3	55558	broad.mit.edu	37	chrX	153696202	153696202	+	Frame_Shift_Del	DEL	G	G	-													gccatgatggggctggcggcGgggggtgggctcctgctgct							TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153696201_153696201CG>C	uc004flm.3	+	20	3850	c.3677_3677CG>C	c.(3676-3678)gcgfs	p.A1226fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1226					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)					GGGCTGGCGGCGGGGGGTGGG	0.687													-	153696202	G	-	153696202	7	5	264	1	0	1	0	1	0	0	0	0	12121	1103	39	0	3756	0	PLXNA3	23	153696202	Frame_Shift_Del	DEL	G	TCGA-HU-A4G8-01A-11D-A25D-08	35548	153696202	1574358	1770	131288											
F8	2157	broad.mit.edu	37	chrX	154159624	154159624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtggagtaggactctgtCgcaagagcatcaacaaatca	10	9	3	1			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:154159624C>T	uc004fmt.2	-	14	2612	c.2441G>A	c.(2440-2442)CGA>CAA	p.R814Q		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	814	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	p.R814*(1)		ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	AGGACTCTGTCGCAAGAGCAT	0.418													T	154159624	C	T	154159624	3	4	264	1	0	0	0	0	1	0	0	0	5350	884	31	1	4694	1	F8	23	154159624	Missense_Mutation	SNP	C	TCGA-HU-A4G8-01A-11D-A25D-08	463422	154159624	1110936	1771	131289											
ATAD3A	55210	broad.mit.edu	37	chr1	1454368	1454368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagcaggaagccatgcggcGaggtaggctgtctgctctcc	15	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:1454368G>A	uc001afz.1	+	5	750	c.656G>A	c.(655-657)CGA>CAA	p.R219Q	ATAD3A_uc001aga.1_Missense_Mutation_p.R171Q|ATAD3A_uc001agb.1_Missense_Mutation_p.R92Q	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	219	Potential.						ATP binding|nucleoside-triphosphatase activity|protein binding			skin(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;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)		GCCATGCGGCGAGGTAGGCTG	0.607													A	1454368	G	A	1454368	3	1	265	1	0	0	0	0	1	0	0	0	1073	1058	37	1	674	1	ATAD3A	1	1454368	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		1454368	247796253	1	131290											
NADK	65220	broad.mit.edu	37	chr1	1688041	1688041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttccacatacacgatcaTgttctcctggaagcaaagtg	7	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:1688041T>C	uc009vkw.2	-	5	521	c.400A>G	c.(400-402)ATG>GTG	p.M134V	NADK_uc001aic.2_Missense_Mutation_p.M134V|NADK_uc001aid.3_Missense_Mutation_p.M134V|NADK_uc001aie.2_Missense_Mutation_p.M279V|NADK_uc010nyv.1_Missense_Mutation_p.M102V|NADK_uc009vkx.1_Missense_Mutation_p.M12V	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	134					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	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)		TACACGATCATGTTCTCCTGG	0.542													C	1688041	T	C	1688041	3	2	265	1	0	0	0	0	1	0	0	0	10137	1464	51	3	972	3	NADK	1	1688041	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	233673	1688041	247562580	2	131291											
CHD5	26038	broad.mit.edu	37	chr1	6181285	6181285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctccactctatccaaggCggctggaagggcctgcagag	12	13	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:6181285C>T	uc001amb.1	-	33	4892	c.4792G>A	c.(4792-4794)GCC>ACC	p.A1598T	CHD5_uc001alz.1_Missense_Mutation_p.A455T|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1598					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		CTATCCAAGGCGGCTGGAAGG	0.657													T	6181285	C	T	6181285	3	4	265	1	0	0	0	0	1	0	0	0	3328	768	27	1	1108	1	CHD5	1	6181285	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4493244	6181285	243069336	3	131292											
CHD5	26038	broad.mit.edu	37	chr1	6206467	6206467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagttgcgatacatcaccGtgtggtacagctccagctgc	12	11	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:6206467G>A	uc001amb.1	-	11	1707	c.1607C>T	c.(1606-1608)ACG>ATG	p.T536M	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	536	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		ATACATCACCGTGTGGTACAG	0.577													A	6206467	G	A	6206467	3	1	265	1	0	0	0	0	1	0	0	0	3328	1145	40	1	4381	1	CHD5	1	6206467	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	25182	6206467	243044154	4	131293											
SLC2A5	6518	broad.mit.edu	37	chr1	9098963	9098963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcagcagcagcctcCgacccaggagctccaccacg	10	19	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:9098963C>T	uc001apo.2	-	9	1314	c.1022G>A	c.(1021-1023)CGG>CAG	p.R341Q	SLC2A5_uc010nzy.1_Missense_Mutation_p.R282Q|SLC2A5_uc010nzz.1_Missense_Mutation_p.R226Q|SLC2A5_uc010oaa.1_Missense_Mutation_p.R297Q|SLC2A5_uc010oab.1_Missense_Mutation_p.R341Q	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	341	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	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)		CAGCAGCCTCCGACCCAGGAG	0.667													T	9098963	C	T	9098963	3	4	265	1	0	0	0	0	1	0	0	0	14548	652	23	1	499	1	SLC2A5	1	9098963	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2892496	9098963	240151658	5	131294											
CASZ1	54897	broad.mit.edu	37	chr1	10699614	10699614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgggcacggcgcagtcGgcgctggagctgaactggca	17	12	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:10699614G>A	uc001aro.2	-	21	4985	c.4665C>T	c.(4663-4665)GCC>GCT	p.A1555A		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		CGGCGCAGTCGGCGCTGGAGC	0.657													A	10699614	G	A	10699614	2	1	265	1	0	0	0	0	0	0	0	1	2685	1103	39	1		1	CASZ1	1	10699614	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1600651	10699614	238551007	6	131295											
CASZ1	54897	broad.mit.edu	37	chr1	10725588	10725588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgtttgggcgccatggcGggcttgcctgcaggcgggtc	18	11	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:10725588G>A	uc001aro.2	-	5	377	c.57C>T	c.(55-57)CCC>CCT	p.P19P	CASZ1_uc001arp.1_Silent_p.P19P|CASZ1_uc009vmx.2_Silent_p.P43P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		GCGCCATGGCGGGCTTGCCTG	0.672													A	10725588	G	A	10725588	2	1	265	1	0	0	0	0	0	0	0	1	2685	1103	39	1		1	CASZ1	1	10725588	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	25974	10725588	238525033	7	131296											
EPHA2	1969	broad.mit.edu	37	chr1	16458317	16458317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcagaggtgaacttccGgtaggaaatggcctccgggg	17	9	0	2	rs55869078	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:16458317G>A	uc001aya.1	-	14	2511	c.2374C>T	c.(2374-2376)CGG>TGG	p.R792W		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	792	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	GTGAACTTCCGGTAGGAAATG	0.637													A	16458317	G	A	16458317	3	1	265	1	0	0	0	0	1	0	0	0	5167	1115	39	1	572	1	EPHA2	1	16458317	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5732729	16458317	232792304	8	131297											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809240	18809240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggctggtggccctggacGggcacctgtatgccatcggc	16	14	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:18809240G>A	uc001bax.2	+	1	1817	c.1765G>A	c.(1765-1767)GGG>AGG	p.G589R	KLHDC7A_uc009vpg.2_Missense_Mutation_p.G371R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	589	Kelch 3.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		GGCCCTGGACGGGCACCTGTA	0.692													A	18809240	G	A	18809240	3	1	265	1	0	0	0	0	1	0	0	0	8360	1116	39	1	1767	1	KLHDC7A	1	18809240	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2350923	18809240	230441381	9	131298											
HSPG2	3339	broad.mit.edu	37	chr1	22174580	22174580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatccgcagccgggagcCcacgatctgcaggaagcaga	15	12	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:22174580C>T	uc001bfj.2	-	60	7784	c.7744G>A	c.(7744-7746)GGC>AGC	p.G2582S	HSPG2_uc009vqd.2_Missense_Mutation_p.G2583S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2582	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	AGCCGGGAGCCCACGATCTGC	0.652													T	22174580	C	T	22174580	3	4	265	1	0	0	0	0	1	0	0	0	7430	623	22	4	5583	4	HSPG2	1	22174580	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3365340	22174580	227076041	10	131299											
EPHB2	2048	broad.mit.edu	37	chr1	23111249	23111249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatcaacaccgaggtgcGgagcttcggacctgtgtccc	12	12	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:23111249G>A	uc009vqj.1	+	3	636	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	EPHB2_uc001bge.2_Missense_Mutation_p.R164Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R164Q|EPHB2_uc010odu.1_Missense_Mutation_p.R164Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	164	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		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)		ACCGAGGTGCGGAGCTTCGGA	0.602									Hereditary_Prostate_Cancer				A	23111249	G	A	23111249	3	1	265	1	0	0	0	0	1	0	0	0	5175	1116	39	1	501	1	EPHB2	1	23111249	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	936669	23111249	226139372	11	131300											
ARID1A	8289	broad.mit.edu	37	chr1	27100207	27100207	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcagcagcagcaaCggtgagtaaagcctggtctc	13	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:27100207C>T	uc001bmv.1	+	16	4376	c.4003C>T	c.(4003-4005)CGA>TGA	p.R1335*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1334*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1335*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R952*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R181*|ARID1A_uc009vsm.1_Translation_Start_Site|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1335	Gln-rich.				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.Q1334_R1335insQ(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		gcagcagcaACGGTGAGTAAA	0.498			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								T	27100207	C	T	27100207	4	4	265	1	0	0	0	0	0	1	0	0	913	550	19	1	4065	1	ARID1A	1	27100207	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3988958	27100207	222150414	12	131301											
SYTL1	84958	broad.mit.edu	37	chr1	27677388	27677388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggcgaagttgaagtgcCcctggacacgtgggactggg	17	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:27677388C>T	uc001bnw.1	+	11	1276	c.1109C>T	c.(1108-1110)CCC>CTC	p.P370L	SYTL1_uc001bnv.1_Missense_Mutation_p.P358L|SYTL1_uc009vsu.1_Intron|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.P370L	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	370					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		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)		GTTGAAGTGCCCCTGGACACG	0.701													T	27677388	C	T	27677388	3	4	265	1	0	0	0	0	1	0	0	0	15479	623	22	4	1111	4	SYTL1	1	27677388	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	577181	27677388	221573233	13	131302											
MAP3K6	9064	broad.mit.edu	37	chr1	27691373	27691373	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacagggagggctgtaccAgcgagctgctcacctccagc	13	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:27691373A>G	uc001bny.1	-	2	620	c.371T>C	c.(370-372)CTG>CCG	p.L124P	MAP3K6_uc009vsw.1_Missense_Mutation_p.L124P	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	124					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		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)		GGGCTGTACCAGCGAGCTGCT	0.627													G	27691373	A	G	27691373	3	3	265	1	0	0	0	0	1	0	0	0	9254	188	7	3	3607	3	MAP3K6	1	27691373	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	13985	27691373	221559248	14	131303											
PTPRU	10076	broad.mit.edu	37	chr1	29641884	29641884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgctctctctccagCgcgggcaccggccgcacagg	15	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:29641884C>T	uc001bru.2	+	24	3368	c.3258C>T	c.(3256-3258)AGC>AGT	p.S1086S	PTPRU_uc001brv.2_Silent_p.S1082S|PTPRU_uc001brw.2_Silent_p.S1076S|PTPRU_uc009vtq.2_Silent_p.S1082S|PTPRU_uc009vtr.2_Silent_p.S1073S	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1086	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		CTCTCTCCAGCGCGGGCACCG	0.582													T	29641884	C	T	29641884	2	4	265	1	0	0	0	0	0	0	0	1	12813	782	27	1		1	PTPRU	1	29641884	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1950511	29641884	219608737	15	131304											
COL16A1	1307	broad.mit.edu	37	chr1	32127954	32127954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaagccaggcttgccgTccttcccatccaaaccatcc	5	20	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:32127954T>C	uc001btk.1	-	58	4027	c.3662A>G	c.(3661-3663)GAC>GGC	p.D1221G	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Missense_Mutation_p.D1019G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1221	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGCTTGCCGTCCTTCCCATC	0.617													C	32127954	T	C	32127954	3	2	265	1	0	0	0	0	1	0	0	0	3673	1667	58	3	1208	3	COL16A1	1	32127954	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2486070	32127954	217122667	16	131305											
TMEM39B	55116	broad.mit.edu	37	chr1	32557559	32557559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaaggaagtgctcgtcAgctccatgctgagcgcctac	12	12	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:32557559A>G	uc010ogv.1	+	6	1020	c.874A>G	c.(874-876)AGC>GGC	p.S292G	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.S165G|TMEM39B_uc001bue.3_Missense_Mutation_p.S293G|TMEM39B_uc001buf.3_Missense_Mutation_p.S93G|TMEM39B_uc010ogw.1_Missense_Mutation_p.S93G	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	292	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGTGCTCGTCAGCTCCATGCT	0.577													G	32557559	A	G	32557559	3	3	265	1	0	0	0	0	1	0	0	0	16159	188	7	3	896	3	TMEM39B	1	32557559	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	429605	32557559	216693062	17	131306											
LCK	3932	broad.mit.edu	37	chr1	32740365	32740365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaaatggctctgaggtgCgggacccactggttacctac	12	12	1	1	rs139649211		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:32740365C>T	uc001bux.2	+	3	271	c.133C>T	c.(133-135)CGG>TGG	p.R45W	LCK_uc001buy.2_Missense_Mutation_p.R45W|LCK_uc001buz.2_Missense_Mutation_p.R45W|LCK_uc010ohc.1_Missense_Mutation_p.R89W|LCK_uc001bva.2_Missense_Mutation_p.R45W	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	45	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			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTCTGAGGTGCGGGACCCACT	0.632			T	TRB@	T-ALL								T	32740365	C	T	32740365	3	4	265	1	0	0	0	0	1	0	0	0	8676	759	27	1	139	1	LCK	1	32740365	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	182806	32740365	216510256	18	131307											
RBBP4	5928	broad.mit.edu	37	chr1	33134370	33134370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgcaacccagacttgcGtctccgtggacatcagaagg	12	11	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:33134370G>A	uc001bvr.2	+	5	674	c.515G>A	c.(514-516)CGT>CAT	p.R172H	RBBP4_uc001bvs.2_Missense_Mutation_p.R171H|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.R137H	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	172					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCAGACTTGCGTCTCCGTGGA	0.502													A	33134370	G	A	33134370	3	1	265	1	0	0	0	0	1	0	0	0	13101	1145	40	1	533	1	RBBP4	1	33134370	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	394005	33134370	216116251	19	131308											
ZSCAN20	7579	broad.mit.edu	37	chr1	33959045	33959045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaggaactggactcgcTgatgagggctcgggctgcag	16	9	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:33959045T>C	uc001bxj.3	+	7	1870	c.1703T>C	c.(1702-1704)CTG>CCG	p.L568P	ZSCAN20_uc009vui.2_Missense_Mutation_p.L567P	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	568					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTGGACTCGCTGATGAGGGCT	0.587													C	33959045	T	C	33959045	3	2	265	1	0	0	0	0	1	0	0	0	18229	1580	55	3	1725	3	ZSCAN20	1	33959045	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	824675	33959045	215291576	20	131309											
TRIT1	54802	broad.mit.edu	37	chr1	40309782	40309782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatactctacctgcccattCgcgatccccaatgatgattc	5	16	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:40309782C>T	uc010oiz.1	-	10	1239	c.1225G>A	c.(1225-1227)GAA>AAA	p.E409K	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.E105K|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.E163K|TRIT1_uc001ceh.3_Missense_Mutation_p.E163K|TRIT1_uc009vvv.2_Missense_Mutation_p.E242K|TRIT1_uc001cei.3_Missense_Mutation_p.E163K|TRIT1_uc001ceq.2_Missense_Mutation_p.E105K|TRIT1_uc001cek.2_Missense_Mutation_p.E105K|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.E327K|TRIT1_uc001cen.2_Missense_Mutation_p.E163K|TRIT1_uc001ceo.2_Missense_Mutation_p.E163K|TRIT1_uc001cep.2_Missense_Mutation_p.E163K	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	409	Matrin-type.				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-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;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCTGCCCATTCGCGATCCCCA	0.453													T	40309782	C	T	40309782	3	4	265	1	0	0	0	0	1	0	0	0	16557	893	31	1	186	1	TRIT1	1	40309782	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6350737	40309782	208940839	21	131310											
HIVEP3	59269	broad.mit.edu	37	chr1	42048716	42048716	+	Frame_Shift_Del	DEL	G	G	-													cggctggcgcttcagcatccGggggtgggaggtaaacacgt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:42048716delG	uc001cgz.3	-	4	2966	c.1753delC	c.(1753-1755)CGGfs	p.R585fs	HIVEP3_uc001cha.3_Frame_Shift_Del_p.R585fs|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	585	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCAGCATCCGGGGGTGGGAG	0.597													-	42048716	G	-	42048716	7	5	265	1	0	1	0	1	0	0	0	0	7188	1115	39	0	5491	0	HIVEP3	1	42048716	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	1738934	42048716	207201905	22	131311											
CLDN19	149461	broad.mit.edu	37	chr1	43204235	43204236	+	Frame_Shift_Ins	INS	-	-	C													cacggccaccaccatcagggINScccgcgctgattggatgtga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:43204235_43204236insC	uc001cht.1	-	2	435_436	c.244_245insG	c.(244-246)GCCfs	p.A82fs	CLDN19_uc001chu.2_Frame_Shift_Ins_p.A82fs|CLDN19_uc010ojv.1_Frame_Shift_Ins_p.A82fs	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	82	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACCATCAGGGCCCGCGCTGAT	0.658													C	43204236	-	C	43204235	7	5	265	1	0	1	1	0	0	0	0	0	3480	1203	42	0	561	0	CLDN19	1	43204235	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1155519	43204235	206046386	23	131312	672	2									
CLDN19	149461	broad.mit.edu	37	chr1	43204236	43204237	+	Frame_Shift_Ins	INS	-	-	C													acggccaccaccatcagggcINSccgcgctgattggatgtgac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:43204235_43204236G>GC	uc001cht.1	-	1	435_436	c.244_245C>GC	c.(244-246)gccfs	p.A82fs	CLDN19_uc001chu.2_Frame_Shift_Ins_p.A82fs|CLDN19_uc010ojv.1_Frame_Shift_Ins_p.A82fs	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	82					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACCATCAGGGCCCGCGCTGAT	0.658													C	43204237	-	C	43204236	7	5	265	1	0	1	1	0	0	0	0	0	3480	739	26	0	562	0	CLDN19	1	43204236	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	43204236	206046385	24	131313	672	2									
KDM4A	9682	broad.mit.edu	37	chr1	44131409	44131409	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaagcggttggaacgcctCgccaaaggtactgtgtctct	13	10	1	0	rs139088184		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:44131409C>T	uc001cjx.2	+	6	832	c.666C>T	c.(664-666)CTC>CTT	p.L222L	KDM4A_uc010oki.1_Silent_p.L222L	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	222	JmjC.				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			skin(1)	1						TGGAACGCCTCGCCAAAGGTA	0.527													T	44131409	C	T	44131409	2	4	265	1	0	0	0	0	0	0	0	1	8128	871	31	1		1	KDM4A	1	44131409	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	927173	44131409	205119212	25	131314											
RNF220	55182	broad.mit.edu	37	chr1	44877843	44877843	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctggcatccccagcacTgatggtcctggcatccacgg	10	17	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:44877843T>G	uc001clv.1	+	2	434	c.74T>G	c.(73-75)CTG>CGG	p.L25R	RNF220_uc001clw.1_Missense_Mutation_p.L25R	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	25					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCCCCAGCACTGATGGTCCTG	0.577													G	44877843	T	G	44877843	3	3	265	1	0	0	0	0	1	0	0	0	13483	1580	55	5	76	5	RNF220	1	44877843	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	746434	44877843	204372778	26	131315											
PTCH2	8643	broad.mit.edu	37	chr1	45288153	45288154	+	Frame_Shift_Ins	INS	-	-	G													tagtggcagcaggggaccaaINSgggggctcatcaggggctgg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:45288153_45288154insG	uc010olf.1	-	22	3557_3558	c.3545_3546insC	c.(3544-3546)CCTfs	p.P1182fs	PTCH2_uc010olg.1_Frame_Shift_Ins_p.P880fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	1182	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAGGGGACCAAGGGGGCTCATC	0.629									Basal_Cell_Nevus_syndrome				G	45288154	-	G	45288153	7	5	265	1	0	1	1	0	0	0	0	0	12731	59	3	0	89	0	PTCH2	1	45288153	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	410310	45288153	203962468	27	131316	673	2									
PTCH2	8643	broad.mit.edu	37	chr1	45288154	45288155	+	Frame_Shift_Ins	INS	-	-	G													agtggcagcaggggaccaagINSggggctcatcaggggctgga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:45288153_45288154A>AG	uc010olf.2	-	21	3557_3558	c.3545_3546T>CT	c.(3544-3546)cctfs	p.P1182fs	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Frame_Shift_Ins_p.P880fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1182					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)					CAGGGGACCAAGGGGGCTCATC	0.629									Basal Cell Nevus syndrome				G	45288155	-	G	45288154	7	5	265	1	0	1	1	0	0	0	0	0	12731	1000	35	0	90	0	PTCH2	1	45288154	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	45288154	203962467	28	131317	673	2									
CYP4B1	1580	broad.mit.edu	37	chr1	47280920	47280920	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgagatcctaggggacCaggacttcttccagtggtga	13	11	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:47280920C>T	uc001cqm.3	+	8	1138	c.1054C>T	c.(1054-1056)CAG>TAG	p.Q352*	CYP4B1_uc009vyl.1_Nonsense_Mutation_p.Q189*|CYP4B1_uc001cqn.3_Nonsense_Mutation_p.Q353*|CYP4B1_uc009vym.2_Nonsense_Mutation_p.Q338*|CYP4B1_uc010omk.1_Nonsense_Mutation_p.Q189*	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	352					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCTAGGGGACCAGGACTTCTT	0.582													T	47280920	C	T	47280920	4	4	265	1	0	0	0	0	0	1	0	0	4185	595	21	4	1087	4	CYP4B1	1	47280920	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1992766	47280920	201969701	29	131318											
CYP4X1	260293	broad.mit.edu	37	chr1	47512174	47512174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcgtacaccacaatgtGcatcaaggagacgtgccgat	11	10	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:47512174G>A	uc001cqt.2	+	9	1359	c.1109G>A	c.(1108-1110)TGC>TAC	p.C370Y	CYP4X1_uc001cqr.2_Missense_Mutation_p.C369Y|CYP4X1_uc001cqs.2_Missense_Mutation_p.C305Y	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	370						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						ACCACAATGTGCATCAAGGAG	0.498													A	47512174	G	A	47512174	3	1	265	1	0	0	0	0	1	0	0	0	4193	1319	46	2	1143	2	CYP4X1	1	47512174	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	231254	47512174	201738447	30	131319											
OSBPL9	114883	broad.mit.edu	37	chr1	52246930	52246930	+	Frame_Shift_Del	DEL	A	A	-													gaaggaaaggatcagttgccAaaaagccatacaatcccatt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:52246930delA	uc001cst.2	+	16	1370	c.1351delA	c.(1351-1353)AAAfs	p.K451fs	OSBPL9_uc001css.2_Frame_Shift_Del_p.K456fs|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Frame_Shift_Del_p.K452fs|OSBPL9_uc001csu.2_Frame_Shift_Del_p.K461fs|OSBPL9_uc001csv.2_Frame_Shift_Del_p.K286fs|OSBPL9_uc001csw.2_Frame_Shift_Del_p.K438fs|OSBPL9_uc001csy.2_Frame_Shift_Del_p.K273fs|OSBPL9_uc001csz.2_Frame_Shift_Del_p.K273fs|OSBPL9_uc001cta.2_Frame_Shift_Del_p.K341fs|OSBPL9_uc001ctb.2_Frame_Shift_Del_p.K236fs	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	451					lipid transport		lipid binding			central_nervous_system(1)	1						ATCAGTTGCCAAAAAGCCATA	0.428													-	52246930	A	-	52246930	7	5	265	1	0	1	0	1	0	0	0	0	11284	131	5	0	1517	0	OSBPL9	1	52246930	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	4734756	52246930	197003691	31	131320											
C1orf163	65260	broad.mit.edu	37	chr1	53153414	53153414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaaatgttaagggttggAcacctttctgctgttctttg	9	9	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:53153414A>G	uc001cui.1	-	3	714	c.674T>C	c.(673-675)GTC>GCC	p.V225A		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	hypothetical protein LOC65260	225							binding				0						TAAGGGTTGGACACCTTTCTG	0.527													G	53153414	A	G	53153414	3	3	265	1	0	0	0	0	1	0	0	0	2011	275	10	3	25	3	C1orf163	1	53153414	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	906484	53153414	196097207	32	131321											
IL12RB2	3595	broad.mit.edu	37	chr1	67833651	67833651	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccagggggtgacacaCaggtccctctaaactggcta	10	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:67833651C>T	uc001ddu.2	+	10	2042	c.1402C>T	c.(1402-1404)CAG>TAG	p.Q468*	IL12RB2_uc010oqi.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqj.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqm.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	468	Fibronectin type-III 4.|Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						GGGTGACACACAGGTCCCTCT	0.512													T	67833651	C	T	67833651	4	4	265	1	0	0	0	0	0	1	0	0	7627	479	17	4	1436	4	IL12RB2	1	67833651	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	14680237	67833651	181416970	33	131322											
DEPDC1	55635	broad.mit.edu	37	chr1	68948473	68948473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggcactcagttgattTgaaggaattcaaattgttta	9	4	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:68948473T>C	uc001dem.3	-	8	1135	c.1018A>G	c.(1018-1020)AAA>GAA	p.K340E	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	340					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCAGTTGATTTGAAGGAATTC	0.358													C	68948473	T	C	68948473	3	2	265	1	0	0	0	0	1	0	0	0	4439	1821	63	3	1437	3	DEPDC1	1	68948473	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1114822	68948473	180302148	34	131323											
LHX8	431707	broad.mit.edu	37	chr1	75602895	75602896	+	Frame_Shift_Del	DEL	GT	GT	-													tccggctgccctcctggcaaGtgtgtgtgcaacagttgcgg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:75602895_75602896delGT	uc001dgo.2	+	4	880_881	c.216_217delGT	c.(214-219)AAGTGTfs	p.K72fs	LHX8_uc001dgq.2_Frame_Shift_Del_p.K11fs	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	72_73	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTCCTGGCAAGTGTGTGTGCAA	0.678													-	75602896	GT	-	75602895	7	5	265	1	0	1	0	1	0	0	0	0	8776	1020	36	0	226	0	LHX8	1	75602895	Frame_Shift_Del	DEL	GT	TCGA-HU-A4G9-01A-11D-A24D-08	6654422	75602895	173647726	35	131324											
MSH4	4438	broad.mit.edu	37	chr1	76344799	76344799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctagtgatcaacttcctTcagaatttattaaggttcat	5	8	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:76344799T>C	uc001dhd.1	+	12	1704	c.1663T>C	c.(1663-1665)TCA>CCA	p.S555P		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	555					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						TCAACTTCCTTCAGAATTTAT	0.328								MMR					C	76344799	T	C	76344799	3	2	265	1	0	0	0	0	1	0	0	0	9872	1783	62	3	1709	3	MSH4	1	76344799	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	741904	76344799	172905822	36	131325											
PRKACB	5567	broad.mit.edu	37	chr1	84649798	84649798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaattttcctttccttgttCgactggagtatgcttttaag	8	7	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:84649798C>T	uc001djj.2	+	4	580	c.316C>T	c.(316-318)CGA>TGA	p.R106*	PRKACB_uc001djl.2_Nonsense_Mutation_p.R153*|PRKACB_uc010ort.1_Nonsense_Mutation_p.R113*|PRKACB_uc001djn.2_Nonsense_Mutation_p.R110*|PRKACB_uc010oru.1_Nonsense_Mutation_p.R94*|PRKACB_uc001djp.2_Nonsense_Mutation_p.R112*|PRKACB_uc001djq.2_Intron|PRKACB_uc010orv.1_Nonsense_Mutation_p.R93*|PRKACB_uc001dji.2_Nonsense_Mutation_p.R106*|PRKACB_uc001djk.2_Nonsense_Mutation_p.R153*|PRKACB_uc009wcf.1_Nonsense_Mutation_p.R112*	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	106	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			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTTCCTTGTTCGACTGGAGTA	0.274													T	84649798	C	T	84649798	4	4	265	1	0	0	0	0	0	1	0	0	12498	876	31	1	521	1	PRKACB	1	84649798	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	8304999	84649798	164600823	37	131326											
CCDC18	343099	broad.mit.edu	37	chr1	93667456	93667456	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaattttagagctgaaCgacaaaggaatgaagcacta	8	5	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:93667456C>T	uc001dpq.2	+	7	1228	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	236	Potential.									ovary(2)|breast(2)|pancreas(1)	5		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)		TAGAGCTGAACGACAAAGGAA	0.308													T	93667456	C	T	93667456	4	4	265	1	0	0	0	0	0	1	0	0	2794	528	19	1	1086	1	CCDC18	1	93667456	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	9017658	93667456	155583165	38	131327											
PTBP2	58155	broad.mit.edu	37	chr1	97272007	97272007	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagtctgtttaccctcttCggtatgttattgttagcact	7	9	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:97272007C>T	uc001drq.2	+	10	1323	c.1077C>T	c.(1075-1077)TTC>TTT	p.F359F	PTBP2_uc001drn.2_Silent_p.F364F|PTBP2_uc001dro.2_Silent_p.F359F|PTBP2_uc010otz.1_Silent_p.F375F|PTBP2_uc001drp.2_Intron|PTBP2_uc009wdw.2_Silent_p.F307F|PTBP2_uc001drr.2_Silent_p.F364F|PTBP2_uc010oua.1_Silent_p.F367F|PTBP2_uc001dru.2_Intron|PTBP2_uc001drs.1_Intron|PTBP2_uc001drt.2_Intron	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	359	RRM 3.						nucleotide binding				0		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)		TTACCCTCTTCGGTATGTTAT	0.378													T	97272007	C	T	97272007	2	4	265	1	0	0	0	0	0	0	0	1	12726	898	31	1		1	PTBP2	1	97272007	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3604551	97272007	151978614	39	131328											
DBT	1629	broad.mit.edu	37	chr1	100672100	100672100	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcggttcagttcagtggcGatgtcaaatatagagcagat	13	6	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:100672100G>A	uc001dta.2	-	9	1143	c.1110C>T	c.(1108-1110)ATC>ATT	p.I370I	DBT_uc010oug.1_Silent_p.I189I	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	370					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GTTCAGTGGCGATGTCAAATA	0.428													A	100672100	G	A	100672100	2	1	265	1	0	0	0	0	0	0	0	1	4258	1048	37	1		1	DBT	1	100672100	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3400093	100672100	148578521	40	131329											
VCAM1	7412	broad.mit.edu	37	chr1	101197054	101197054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaaacaaaggcagagtaCgcaaacactttatgtcaatg	7	10	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:101197054C>T	uc001dti.2	+	6	1625	c.1505C>T	c.(1504-1506)ACG>ATG	p.T502M	VCAM1_uc001dtj.2_Missense_Mutation_p.T410M|VCAM1_uc010ouj.1_Missense_Mutation_p.T440M	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	502	Ig-like C2-type 5.|Extracellular (Potential).				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(1)	1		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)	AGGCAGAGTACGCAAACACTT	0.378													T	101197054	C	T	101197054	3	4	265	1	0	0	0	0	1	0	0	0	17134	536	19	1	1527	1	VCAM1	1	101197054	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	524954	101197054	148053567	41	131330											
COL11A1	1301	broad.mit.edu	37	chr1	103354303	103354303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctttgttaccctttggGccttgaggaccctacaaaat	9	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:103354303G>A	uc001dul.2	-	61	4848	c.4530C>T	c.(4528-4530)GGC>GGT	p.G1510G	COL11A1_uc001duk.2_Silent_p.G706G|COL11A1_uc001dum.2_Silent_p.G1522G|COL11A1_uc001dun.2_Silent_p.G1471G|COL11A1_uc009weh.2_Silent_p.G1394G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1510	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		TACCCTTTGGGCCTTGAGGAC	0.348													A	103354303	G	A	103354303	2	1	265	1	0	0	0	0	0	0	0	1	3667	1190	42	2		2	COL11A1	1	103354303	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2157249	103354303	145896318	42	131331											
AKNAD1	254268	broad.mit.edu	37	chr1	109369927	109369927	+	Splice_Site	DEL	A	A	-													ttctccacgttttgcttcctAaaaaaaggtgcataagatcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378													-	109369927	A	-	109369927	8	5	265	1	0	1	0	1	0	0	1	0	464	377	13	0		0	AKNAD1	1	109369927	Splice_Site	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	6015624	109369927	139880694	43	131332											
SARS	6301	broad.mit.edu	37	chr1	109756660	109756660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtggataaaggaggggacCcagccctcatccgagagacg	16	10	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:109756660C>A	uc001dwu.1	+	1	121	c.46C>A	c.(46-48)CCA>ACA	p.P16T	SARS_uc001dwt.1_Missense_Mutation_p.P16T|SARS_uc001dwv.1_Missense_Mutation_p.P16T|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.P16T|SARS_uc009wfa.1_Missense_Mutation_p.P16T|SARS_uc001dwy.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	16					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGGAGGGGACCCAGCCCTCAT	0.597													A	109756660	C	A	109756660	3	1	265	1	0	0	0	0	1	0	0	0	13844	623	22	5	48	5	SARS	1	109756660	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	386733	109756660	139493961	44	131333											
FAM40A	85369	broad.mit.edu	37	chr1	110582098	110582098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcctggaggtgggcaCgttcaatgctttggtggagc	14	10	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:110582098C>T	uc001dza.1	+	5	561	c.542C>T	c.(541-543)ACG>ATG	p.T181M	FAM40A_uc001dyz.1_Missense_Mutation_p.T86M|FAM40A_uc009wfp.1_Translation_Start_Site	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	181						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GAGGTGGGCACGTTCAATGCT	0.557													T	110582098	C	T	110582098	3	4	265	1	0	0	0	0	1	0	0	0	5560	536	19	1	560	1	FAM40A	1	110582098	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	825438	110582098	138668523	45	131334											
KCNC4	3749	broad.mit.edu	37	chr1	110754518	110754519	+	Frame_Shift_Ins	INS	-	-	G													cgaagaggagctcaccttctINSggggcatcgacgagaccgac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:110754518_110754519insG	uc001dzh.2	+	1	454_455	c.397_398insG	c.(397-399)TGGfs	p.W133fs	KCNC4_uc001dzf.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc009wfr.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzg.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	133	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTCACCTTCTGGGGCATCGAC	0.673													G	110754519	-	G	110754518	7	5	265	1	0	1	1	0	0	0	0	0	8017	1580	55	0	399	0	KCNC4	1	110754518	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	172420	110754518	138496103	46	131335	674	2									
KCNC4	3749	broad.mit.edu	37	chr1	110754519	110754520	+	Frame_Shift_Ins	INS	-	-	G													gaagaggagctcaccttctgINSgggcatcgacgagaccgacg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:110754518_110754519T>TG	uc009wfr.3	+	0	1183_1184	c.397_398T>TG	c.(397-399)tggfs	p.W133fs	KCNC4_uc001dzf.3_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzh.3_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Frame_Shift_Ins_p.W133fs	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	133					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTCACCTTCTGGGGCATCGAC	0.673													G	110754520	-	G	110754519	7	5	265	1	0	1	1	0	0	0	0	0	8017	1357	47	0	400	0	KCNC4	1	110754519	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	110754519	138496102	47	131336	674	2									
MAGI3	260425	broad.mit.edu	37	chr1	114185046	114185046	+	Frame_Shift_Del	DEL	A	A	-													aattaaggaaatataccatcAaaatgtgcagaatttaacac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:114185046delA	uc001edk.2	+	10	2055	c.1874delA	c.(1873-1875)CAAfs	p.Q625fs	MAGI3_uc001edh.3_Frame_Shift_Del_p.Q650fs|MAGI3_uc001edi.3_Frame_Shift_Del_p.Q625fs|MAGI3_uc010owm.1_Frame_Shift_Del_p.Q650fs|MAGI3_uc001edj.2_Frame_Shift_Del_p.Q346fs	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	650	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	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)		ATATACCATCAAAATGTGCAG	0.403													-	114185046	A	-	114185046	7	5	265	1	0	1	0	1	0	0	0	0	9192	130	5	0	1912	0	MAGI3	1	114185046	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	3430527	114185046	135065575	48	131337											
WDR3	10885	broad.mit.edu	37	chr1	118488721	118488721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcataggtctacactgcaGtgtattcgcacaatgacctg	8	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:118488721G>C	uc010oxe.1	+	12	1407	c.1341G>C	c.(1339-1341)CAG>CAC	p.Q447H	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	447	WD 7.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	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)		CTACACTGCAGTGTATTCGCA	0.383													C	118488721	G	C	118488721	3	2	265	1	0	0	0	0	1	0	0	0	17282	1020	36	5	1383	5	WDR3	1	118488721	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4303675	118488721	130761900	49	131338											
HSD3B2	3284	broad.mit.edu	37	chr1	119962129	119962129	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgccaggacgtctcggtCgtcatccacaccgcctgtat	10	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:119962129C>T	uc001ehs.2	+	2	1004	c.231C>T	c.(229-231)GTC>GTT	p.V77V	HSD3B2_uc001eht.2_Silent_p.V77V|HSD3B2_uc001ehu.2_Silent_p.V77V	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	77					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			ovary(2)	2	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)	ACGTCTCGGTCGTCATCCACA	0.498													T	119962129	C	T	119962129	2	4	265	1	0	0	0	0	0	0	0	1	7391	871	31	1		1	HSD3B2	1	119962129	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1473408	119962129	129288492	50	131339											
ZNF697	90874	broad.mit.edu	37	chr1	120165559	120165559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgaagcgcttctcgcaCtggccacagcggaagggctt	13	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:120165559C>T	uc001ehy.1	-	3	1521	c.1407G>A	c.(1405-1407)CAG>CAA	p.Q469Q		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	469	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCTTCTCGCACTGGCCACAGC	0.652													T	120165559	C	T	120165559	2	4	265	1	0	0	0	0	0	0	0	1	18097	564	20	4		4	ZNF697	1	120165559	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	203430	120165559	129085062	51	131340											
PDE4DIP	9659	broad.mit.edu	37	chr1	144857705	144857705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaattcataccaacatcccGgactggaggggacacagctg	12	11	1	0	rs146619065	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:144857705G>A	uc001elw.3	-	39	6640	c.6349C>T	c.(6349-6351)CGG>TGG	p.R2117W	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R2011W|PDE4DIP_uc001elv.3_Missense_Mutation_p.R1124W	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2117					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAACATCCCGGACTGGAGGG	0.517			T	PDGFRB	MPD								A	144857705	G	A	144857705	3	1	265	1	0	0	0	0	1	0	0	0	11643	1115	39	1	715	1	PDE4DIP	1	144857705	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	24692146	144857705	104392916	52	131341											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859846	144859846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggctggctttgccagCaccgctctccagctgctgtt	12	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:144859846C>T	uc001elw.3	-	38	6529	c.6238G>A	c.(6238-6240)GCT>ACT	p.A2080T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A1974T|PDE4DIP_uc001elv.3_Missense_Mutation_p.A1087T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2080					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTTGCCAGCACCGCTCTCC	0.582			T	PDGFRB	MPD								T	144859846	C	T	144859846	3	4	265	1	0	0	0	0	1	0	0	0	11643	710	25	2	830	2	PDE4DIP	1	144859846	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2141	144859846	104390775	53	131342											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879338	144879338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgaggttttgaatgAccttgttggcattctgcagc	12	8	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:144879338A>G	uc001elw.3	-	27	4403	c.4112T>C	c.(4111-4113)GTC>GCC	p.V1371A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V1327A|PDE4DIP_uc001elv.3_Missense_Mutation_p.V378A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1371	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTTGAATGACCTTGTTGGC	0.488			T	PDGFRB	MPD								G	144879338	A	G	144879338	3	3	265	1	0	0	0	0	1	0	0	0	11643	275	10	3	3000	3	PDE4DIP	1	144879338	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	19492	144879338	104371283	54	131343											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075648	145075648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcatccagggtgtggccGccgcagctgcttcttcctcc	10	17	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:145075648G>A	uc001emh.2	-	1	432	c.215C>T	c.(214-216)GCG>GTG	p.A72V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.A72V|PDE4DIP_uc001emk.2_Missense_Mutation_p.A72V	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGTGTGGCCGCCGCAGCTGC	0.721			T	PDGFRB	MPD								A	145075648	G	A	145075648	3	1	265	1	0	0	0	0	1	0	0	0	11643	1087	38	1	8597	1	PDE4DIP	1	145075648	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	196310	145075648	104174973	55	131344											
CHD1L	9557	broad.mit.edu	37	chr1	146751709	146751709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctattcaagttgagtgagaTactcaaatttggtttggata	9	4	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:146751709T>C	uc001epm.3	+	15	1613	c.1550T>C	c.(1549-1551)ATA>ACA	p.I517T	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.I404T|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.I423T|CHD1L_uc010ozp.1_Missense_Mutation_p.I236T|CHD1L_uc001epo.3_Missense_Mutation_p.I313T|CHD1L_uc010ozq.1_Missense_Mutation_p.I90T|CHD1L_uc009wji.2_Missense_Mutation_p.I236T	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	517					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TTGAGTGAGATACTCAAATTT	0.418													C	146751709	T	C	146751709	3	2	265	1	0	0	0	0	1	0	0	0	3324	1406	49	3	1608	3	CHD1L	1	146751709	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1676061	146751709	102498912	56	131345											
RPRD2	23248	broad.mit.edu	37	chr1	150418791	150418791	+	Frame_Shift_Del	DEL	A	A	-													atggattagataagcaggtgAaaaacggaccctcattaaca							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:150418791delA	uc009wlr.2	+	7	985	c.784delA	c.(784-786)AAAfs	p.K262fs	RPRD2_uc010pcc.1_Frame_Shift_Del_p.K236fs|RPRD2_uc001eup.3_Frame_Shift_Del_p.K236fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	262							protein binding			ovary(1)	1						TAAGCAGGTGAAAAACGGACC	0.363													-	150418791	A	-	150418791	7	5	265	1	0	1	0	1	0	0	0	0	13617	247	9	0	810	0	RPRD2	1	150418791	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	3667082	150418791	98831830	57	131346											
ZNF687	57592	broad.mit.edu	37	chr1	151262928	151262928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgcacagagggaaaacGcaccttcagcagccgcctga	11	12	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:151262928G>A	uc001exq.2	+	8	3196	c.3098G>A	c.(3097-3099)CGC>CAC	p.R1033H	ZNF687_uc009wmo.2_Missense_Mutation_p.R1033H|ZNF687_uc009wmp.2_Silent_p.T1053T	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			GAGGGAAAACGCACCTTCAGC	0.647													A	151262928	G	A	151262928	3	1	265	1	0	0	0	0	1	0	0	0	18089	1087	38	1	3124	1	ZNF687	1	151262928	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	844137	151262928	97987693	58	131347											
RFX5	5993	broad.mit.edu	37	chr1	151318748	151318748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcaccacctgggggggCccttcccccagtcttggggc	13	17	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:151318748C>G	uc001exv.1	-	3	263	c.49G>C	c.(49-51)GCC>CCC	p.A17P	RFX5_uc001exw.1_Missense_Mutation_p.A17P|RFX5_uc009wmr.1_Missense_Mutation_p.A17P|RFX5_uc010pcx.1_Missense_Mutation_p.A17P	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	17						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)			CCTGGGGGGGCCCTTCCCCCA	0.552													G	151318748	C	G	151318748	3	3	265	1	0	0	0	0	1	0	0	0	13266	739	26	5	1837	5	RFX5	1	151318748	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	55820	151318748	97931873	59	131348											
CGN	57530	broad.mit.edu	37	chr1	151491681	151491681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctttgaggaacgggagcGccagtccaccaaccactgga	11	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:151491681G>A	uc009wmw.2	+	2	830	c.686G>A	c.(685-687)CGC>CAC	p.R229H		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	223	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	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)			GAACGGGAGCGCCAGTCCACC	0.612													A	151491681	G	A	151491681	3	1	265	1	0	0	0	0	1	0	0	0	3303	1087	38	1	688	1	CGN	1	151491681	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	172933	151491681	97758940	60	131349											
LCE1D	353134	broad.mit.edu	37	chr1	152770577	152770577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggggctccagctgctgcGgtgggggcagcagccagcac	19	13	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:152770577G>A	uc009wnp.2	+	2	350	c.307G>A	c.(307-309)GGT>AGT	p.G103S		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	103	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	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;0.206)			CAGCTGCTGCGGTGGGGGCAG	0.632													A	152770577	G	A	152770577	3	1	265	1	0	0	0	0	1	0	0	0	8662	1116	39	1	309	1	LCE1D	1	152770577	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1278896	152770577	96480044	61	131350											
GBA	2629	broad.mit.edu	37	chr1	155205593	155205593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccttcggggttcagggCaaggttccagtcggtccagc	13	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:155205593C>A	uc001fjh.2	-	9	1417	c.1267G>T	c.(1267-1269)GCC>TCC	p.A423S	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.A310S|GBA_uc010pfx.1_Missense_Mutation_p.A374S|GBA_uc001fji.2_Missense_Mutation_p.A423S|GBA_uc001fjj.2_Missense_Mutation_p.A423S|GBA_uc001fjk.2_Missense_Mutation_p.A423S|GBA_uc001fjl.2_Missense_Mutation_p.A423S|GBA_uc010pfy.1_Missense_Mutation_p.A336S	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	423					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			ovary(1)|skin(1)	2	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)	GGGTTCAGGGCAAGGTTCCAG	0.532									Gaucher_disease_type_I				A	155205593	C	A	155205593	3	1	265	1	0	0	0	0	1	0	0	0	6266	710	25	5	355	5	GBA	1	155205593	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2435016	155205593	94045028	62	131351											
LMNA	4000	broad.mit.edu	37	chr1	156108328	156108328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctgagtacaacctgcgctCgcgcaccgtgctgtgcggga	14	14	0	1	rs59601651		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:156108328C>T	uc001fni.2	+	11	1997	c.1748C>T	c.(1747-1749)TCG>TTG	p.S583L	LMNA_uc001fnf.1_3'UTR|LMNA_uc001fnh.2_Missense_Mutation_p.S553L|LMNA_uc009wro.1_Missense_Mutation_p.S583L|LMNA_uc001fnj.2_3'UTR|LMNA_uc001fnk.2_Missense_Mutation_p.S484L|LMNA_uc010pha.1_3'UTR|LMNA_uc010phb.1_RNA	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	583	Tail.				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|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					AACCTGCGCTCGCGCACCGTG	0.692									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome				T	156108328	C	T	156108328	3	4	265	1	0	0	0	0	1	0	0	0	8848	893	31	1	1811	1	LMNA	1	156108328	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	902735	156108328	93142293	63	131352											
SEMA4A	64218	broad.mit.edu	37	chr1	156146501	156146501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaaggtcccgttgaccAgggtcagtggtggggccgcc	17	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:156146501A>G	uc001fnl.2	+	15	2103	c.1999A>G	c.(1999-2001)AGG>GGG	p.R667G	SEMA4A_uc009wrq.2_Missense_Mutation_p.R667G|SEMA4A_uc001fnm.2_Missense_Mutation_p.R667G|SEMA4A_uc001fnn.2_Missense_Mutation_p.R535G|SEMA4A_uc001fno.2_Missense_Mutation_p.R667G	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	667	Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCCGTTGACCAGGGTCAGTGG	0.622													G	156146501	A	G	156146501	3	3	265	1	0	0	0	0	1	0	0	0	14031	179	7	3	2053	3	SEMA4A	1	156146501	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	38173	156146501	93104120	64	131353											
CD1D	912	broad.mit.edu	37	chr1	158152725	158152725	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccctggccgtctgctgcTggtgtgccatgtctcaggat	14	12	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:158152725T>G	uc001frr.2	+	5	1164	c.665T>G	c.(664-666)CTG>CGG	p.L222R	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	222	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CGTCTGCTGCTGGTGTGCCAT	0.602													G	158152725	T	G	158152725	3	3	265	1	0	0	0	0	1	0	0	0	2977	1580	55	5	679	5	CD1D	1	158152725	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2006224	158152725	91097896	65	131354											
IGSF9	57549	broad.mit.edu	37	chr1	159900598	159900599	+	Frame_Shift_Ins	INS	-	-	C													tggcactaggaggtgagcagINScccccacaggcactgccaag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:159900598_159900599insC	uc001fur.2	-	14	1894_1895	c.1696_1697insG	c.(1696-1698)GCTfs	p.A566fs	IGSF9_uc001fuq.2_Frame_Shift_Ins_p.A550fs|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	566	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGTGAGCAGCCCCCACAGGC	0.619													C	159900599	-	C	159900598	7	5	265	1	0	1	1	0	0	0	0	0	7605	971	34	0	1874	0	IGSF9	1	159900598	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1747873	159900598	89350023	66	131355	675	2									
IGSF9	57549	broad.mit.edu	37	chr1	159900599	159900600	+	Frame_Shift_Ins	INS	-	-	C													ggcactaggaggtgagcagcINSccccacaggcactgccaagg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:159900598_159900599G>GC	uc001fur.2	-	13	1894_1895	c.1696_1697C>GC	c.(1696-1698)gctfs	p.A566fs	IGSF9_uc001fuq.2_Frame_Shift_Ins_p.A550fs|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	566	Fibronectin type-III 1.					cell junction|integral to membrane|synapse		p.Q565R(1)		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)			GAGGTGAGCAGCCCCCACAGGC	0.619													C	159900600	-	C	159900599	7	5	265	1	0	1	1	0	0	0	0	0	7605	739	26	0	1875	0	IGSF9	1	159900599	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	159900599	89350022	67	131356	675	2									
KCNJ9	3765	broad.mit.edu	37	chr1	160054211	160054211	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgcgtcatcaccgacCagtgccccgagggcatcgtg	13	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:160054211C>T	uc001fuy.1	+	2	633	c.391C>T	c.(391-393)CAG>TAG	p.Q131*		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	131	Extracellular (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCGACCAGTGCCCCGA	0.637													T	160054211	C	T	160054211	4	4	265	1	0	0	0	0	0	1	0	0	8057	595	21	4	393	4	KCNJ9	1	160054211	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	153612	160054211	89196410	68	131357											
IGSF8	93185	broad.mit.edu	37	chr1	160063813	160063814	+	Frame_Shift_Del	DEL	GT	GT	-													cgcccaaaggacactgccagGtgtgtgtgcttctgtgtgct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:160063812_160063813GGT>G	uc001fva.3	-	2	636_637	c.591_592ACC>C	c.(589-594)cacctgfs	p.H197fs	IGSF8_uc001fuz.3_Frame_Shift_Del_p.H197fs|IGSF8_uc009wtf.3_Frame_Shift_Del_p.H197fs	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	197	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	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)			GACACTGCCAGGTGTGTGTGCT	0.653													-	160063814	GT	-	160063813	7	5	265	1	0	1	0	1	0	0	0	0	7604	1252	44	0	1266	0	IGSF8	1	160063813	Frame_Shift_Del	DEL	GT	TCGA-HU-A4G9-01A-11D-A24D-08	9602	160063813	89186808	69	131358											
HSPA6	3310	broad.mit.edu	37	chr1	161495291	161495291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctgtcctccagcacccaGgccaccctggagatagactc	8	18	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:161495291G>T	uc001gap.2	+	2	1503	c.843G>T	c.(841-843)CAG>CAT	p.Q281H	HSPA6_uc001gaq.2_Missense_Mutation_p.Q281H	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	281					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAGCACCCAGGCCACCCTGG	0.642													T	161495291	G	T	161495291	3	4	265	1	0	0	0	0	1	0	0	0	7415	991	35	5	845	5	HSPA6	1	161495291	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1431478	161495291	87755330	70	131359											
ATF6	22926	broad.mit.edu	37	chr1	161816299	161816299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgcaaatcaaaggagGcaccttctaggattttctgc	9	11	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:161816299G>A	uc001gbr.2	+	10	1315	c.1248G>A	c.(1246-1248)AGG>AGA	p.R416R	ATF6_uc001gbq.1_Silent_p.R416R	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	416	Lumenal (Potential).			RR->AA: Reduces proteolytic cleavage.	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ATCAAAGGAGGCACCTTCTAG	0.403													A	161816299	G	A	161816299	2	1	265	1	0	0	0	0	0	0	0	1	1084	1194	42	2		2	ATF6	1	161816299	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	321008	161816299	87434322	71	131360											
LRRC52	440699	broad.mit.edu	37	chr1	165513572	165513572	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggccctgggtggttactCttttcctttggaatggggct	13	10	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:165513572C>T	uc001gde.2	+	1	95	c.39C>T	c.(37-39)CTC>CTT	p.L13L	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	13						integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GGTGGTTACTCTTTTCCTTTG	0.512													T	165513572	C	T	165513572	2	4	265	1	0	0	0	0	0	0	0	1	9010	900	32	4		4	LRRC52	1	165513572	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3697273	165513572	83737049	72	131361											
DUSP27	92235	broad.mit.edu	37	chr1	167096928	167096928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagggagaagatgtctgagTacaaaatggaaaagctggcc	13	5	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:167096928T>C	uc001geb.1	+	5	2560	c.2560T>C	c.(2560-2562)TAC>CAC	p.Y854H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	854					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GATGTCTGAGTACAAAATGGA	0.493													C	167096928	T	C	167096928	3	2	265	1	0	0	0	0	1	0	0	0	4824	1638	57	3	2578	3	DUSP27	1	167096928	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1583356	167096928	82153693	73	131362											
PAPPA2	60676	broad.mit.edu	37	chr1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-													tgttccccattgtgtgtaatCccccccagtgaccccgtgat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:176762723_176762723TC>T	uc001gkz.3	+	19	6212	c.5048_5048TC>T	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				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						TTGTGTGTAATCCCCCCCAGT	0.473													-	176762724	C	-	176762724	7	5	265	1	0	1	0	1	0	0	0	0	11433	845	30	0	5176	0	PAPPA2	1	176762724	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	9665796	176762724	72487897	74	131363											
CEP350	9857	broad.mit.edu	37	chr1	180063357	180063357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttacagaagaggaagacaAcctatatgctgaagcttcag	10	7	1	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:180063357A>G	uc001gnt.2	+	34	8500	c.8117A>G	c.(8116-8118)AAC>AGC	p.N2706S	CEP350_uc009wxl.2_Missense_Mutation_p.N2705S|CEP350_uc001gnv.2_Missense_Mutation_p.N841S|CEP350_uc001gnw.1_Missense_Mutation_p.N463S|CEP350_uc001gnx.1_Missense_Mutation_p.N463S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2706						centrosome|nucleus|spindle				ovary(4)	4						GAGGAAGACAACCTATATGCT	0.408													G	180063357	A	G	180063357	3	3	265	1	0	0	0	0	1	0	0	0	3254	43	2	3	8247	3	CEP350	1	180063357	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3300633	180063357	69187264	75	131364											
CACNA1E	777	broad.mit.edu	37	chr1	181767673	181767673	+	Frame_Shift_Del	DEL	C	C	-													gagtcttccaactctccgcaCccccagcagagccaacatgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:181767672_181767672AC>A	uc009wxt.3	+	47	6839	c.6644_6644AC>A	c.(6643-6645)cacfs	p.H2215fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.H2172fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.H2153fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2215					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						AACTCTCCGCACCCCCAGCAG	0.617													-	181767673	C	-	181767673	7	5	265	1	0	1	0	1	0	0	0	0	2542	506	18	0	6702	0	CACNA1E	1	181767673	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	1704316	181767673	67482948	76	131365											
CFH	3075	broad.mit.edu	37	chr1	196695710	196695710	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaatattattgcaatcctAgatttctaatgaagggacct	8	6	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:196695710A>G	uc001gtj.3	+	13	2224	c.1984A>G	c.(1984-1986)AGA>GGA	p.R662G		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	662	Sushi 11.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TTGCAATCCTAGATTTCTAAT	0.343													G	196695710	A	G	196695710	3	3	265	1	0	0	0	0	1	0	0	0	3283	412	15	3	2052	3	CFH	1	196695710	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	14928037	196695710	52554911	77	131366											
IGFN1	91156	broad.mit.edu	37	chr1	201184907	201184907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggactgtggccagtacaGcgtgacactgaggagtgagg	17	7	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:201184907G>A	uc001gwc.2	+	4	1488	c.716G>A	c.(715-717)AGC>AAC	p.S239N	IGFN1_uc001gwb.2_Intron	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GGCCAGTACAGCGTGACACTG	0.642													A	201184907	G	A	201184907	3	1	265	1	0	0	0	0	1	0	0	0	7590	971	34	2	9290	2	IGFN1	1	201184907	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4489197	201184907	48065714	78	131367											
PKP1	5317	broad.mit.edu	37	chr1	201253030	201253030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccctgagccactccaatcGaggtaaaggctcggcccccg	10	17	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:201253030G>A	uc001gwd.2	+	1	451	c.200G>A	c.(199-201)CGA>CAA	p.R67Q	PKP1_uc001gwe.2_Missense_Mutation_p.R67Q|PKP1_uc009wzm.2_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	67					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			ovary(2)	2						CACTCCAATCGAGGTAAAGGC	0.667													A	201253030	G	A	201253030	3	1	265	1	0	0	0	0	1	0	0	0	11984	1058	37	1	202	1	PKP1	1	201253030	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	68123	201253030	47997591	79	131368											
ATP2B4	493	broad.mit.edu	37	chr1	203677055	203677055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccatgggcaacgccacCgccatctgctctgataagac	10	14	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:203677055C>T	uc001gzw.2	+	10	2264	c.1380C>T	c.(1378-1380)ACC>ACT	p.T460T	ATP2B4_uc001gzv.2_Silent_p.T460T|ATP2B4_uc009xaq.2_Silent_p.T460T	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	460	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAACGCCACCGCCATCTGCT	0.488													T	203677055	C	T	203677055	2	4	265	1	0	0	0	0	0	0	0	1	1142	639	23	1		1	ATP2B4	1	203677055	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2424025	203677055	45573566	80	131369											
PIK3C2B	5287	broad.mit.edu	37	chr1	204399062	204399062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccacctcggccacctcaGggggtgcgtggatcaagtgc	13	15	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:204399062G>A	uc001haw.2	-	30	4864	c.4385C>T	c.(4384-4386)CCT>CTT	p.P1462L	PIK3C2B_uc010pqv.1_Missense_Mutation_p.P1434L	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1462	PX.				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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			GGCCACCTCAGGGGGTGCGTG	0.667													A	204399062	G	A	204399062	3	1	265	1	0	0	0	0	1	0	0	0	11910	1000	35	4	539	4	PIK3C2B	1	204399062	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	722007	204399062	44851559	81	131370											
CR2	1380	broad.mit.edu	37	chr1	207644227	207644227	+	Frame_Shift_Del	DEL	G	G	-													tccatacagtgtacctctgaGggggtgtggacaccccctgt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:207644227delG	uc001hfw.2	+	7	1462	c.1368delG	c.(1366-1368)GAGfs	p.E456fs	CR2_uc001hfv.2_Frame_Shift_Del_p.E456fs|CR2_uc009xch.2_Frame_Shift_Del_p.E456fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	456	Sushi 7.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GTACCTCTGAGGGGGTGTGGA	0.448													-	207644227	G	-	207644227	7	5	265	1	0	1	0	1	0	0	0	0	3842	991	35	0	1394	0	CR2	1	207644227	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	3245165	207644227	41606394	82	131371											
CR1L	1379	broad.mit.edu	37	chr1	207818619	207818619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgtccctttccttcccGgcgctttcctgggttgcttc	10	16	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:207818619G>A	uc001hga.3	+	1	162	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	CR1L_uc001hfz.2_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	14						cytoplasm|extracellular region|membrane					0						TTTCCTTCCCGGCGCTTTCCT	0.667													A	207818619	G	A	207818619	3	1	265	1	0	0	0	0	1	0	0	0	3841	1116	39	1	43	1	CR1L	1	207818619	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	174392	207818619	41432002	83	131372											
PLXNA2	5362	broad.mit.edu	37	chr1	208390360	208390360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggtattccaccccgGcccgggtgcagccgaagggc	17	14	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:208390360G>C	uc001hgz.2	-	2	1666	c.908C>G	c.(907-909)GCC>GGC	p.A303G	PLXNA2_uc001hha.3_Missense_Mutation_p.A357G	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	303	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCCACCCCGGCCCGGGTGCA	0.612													C	208390360	G	C	208390360	3	2	265	1	0	0	0	0	1	0	0	0	12120	1203	42	5	4900	5	PLXNA2	1	208390360	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	571741	208390360	40860261	84	131373											
DTL	51514	broad.mit.edu	37	chr1	212273987	212273987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtctagaaatagagtaaAgaggaggctagactcaagct	12	5	2	5			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:212273987A>G	uc009xdc.2	+	14	1969	c.1655A>G	c.(1654-1656)AAG>AGG	p.K552R	DTL_uc010ptb.1_Missense_Mutation_p.K510R|DTL_uc001hiz.3_Missense_Mutation_p.K281R	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	552					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AATAGAGTAAAGAGGAGGCTA	0.458													G	212273987	A	G	212273987	3	3	265	1	0	0	0	0	1	0	0	0	4787	72	3	3	1709	3	DTL	1	212273987	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3883627	212273987	36976634	85	131374											
ATF3	467	broad.mit.edu	37	chr1	212788387	212788387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcttcaacacccaggccaGgtctctgcctcggaagtgag	11	13	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:212788387G>T	uc001hjf.2	+	2	157	c.24G>T	c.(22-24)CAG>CAT	p.Q8H	ATF3_uc001hjj.2_Missense_Mutation_p.Q8H|ATF3_uc009xdg.1_RNA|ATF3_uc001hjh.2_Missense_Mutation_p.Q8H|ATF3_uc001hji.2_Missense_Mutation_p.Q8H|ATF3_uc010ptg.1_RNA	NM_001030287	NP_001025458	P18847	ATF3_HUMAN	activating transcription factor 3 isoform 1	8						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		ACCCAGGCCAGGTCTCTGCCT	0.557													T	212788387	G	T	212788387	3	4	265	1	0	0	0	0	1	0	0	0	1081	991	35	5	26	5	ATF3	1	212788387	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	514400	212788387	36462234	86	131375											
USH2A	7399	broad.mit.edu	37	chr1	216497693	216497693	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgataatataaaacAcctgaaaatggaaagttaat	6	4	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:216497693A>C	uc001hku.1	-	7	1532	c.1145T>G	c.(1144-1146)GTG>GGG	p.V382G	USH2A_uc001hkv.2_Missense_Mutation_p.V382G	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	382	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATATAAAACACCTGAAAATG	0.289										HNSCC(13;0.011)			C	216497693	A	C	216497693	3	2	265	1	0	0	0	0	1	0	0	0	17033	173	6	5	14741	5	USH2A	1	216497693	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3709306	216497693	32752928	87	131376											
OBSCN	84033	broad.mit.edu	37	chr1	228558394	228558394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagaaatccatgcctgcGgaggaggcccacttcatcaa	9	14	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:228558394G>A	uc009xez.1	+	93	20225	c.20181G>A	c.(20179-20181)GCG>GCA	p.A6727A	OBSCN_uc001hsr.1_Silent_p.A1356A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6727					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCATGCCTGCGGAGGAGGCCC	0.622													A	228558394	G	A	228558394	2	1	265	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228558394	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	12060701	228558394	20692227	88	131377											
OBSCN	84033	broad.mit.edu	37	chr1	228566322	228566322	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctatgtccgtcccaggggCcggccctgcgcgtccagctg	14	17	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:228566322C>G	uc009xez.1	+	105	23777	c.23733C>G	c.(23731-23733)GGC>GGG	p.G7911G	OBSCN_uc001hsr.1_Silent_p.G2540G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7911	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTCCCAGGGGCCGGCCCTGCG	0.617													G	228566322	C	G	228566322	2	3	265	1	0	0	0	0	0	0	0	1	10812	726	26	5		5	OBSCN	1	228566322	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7928	228566322	20684299	89	131378											
NUP133	55746	broad.mit.edu	37	chr1	229643960	229643960	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccttcgggacccggTacccggggtccgcggagaag	17	15	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:229643960T>A	uc001htn.2	-	1	129	c.37A>T	c.(37-39)ACC>TCC	p.T13S		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	13					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			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CGGGACCCGGTACCCGGGGTC	0.721													A	229643960	T	A	229643960	3	1	265	1	0	0	0	0	1	0	0	0	10754	1638	57	5	3537	5	NUP133	1	229643960	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1077638	229643960	19606661	90	131379											
EXOC8	149371	broad.mit.edu	37	chr1	231471450	231471450	+	Frame_Shift_Del	DEL	A	A	-													cagggaggactgtttcatatAaaaaggatgcattctgtctg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:231471450delA	uc001huq.2	-	1	2129	c.2042delT	c.(2041-2043)TTAfs	p.L681fs		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	681					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGTTTCATATAAAAAGGATGC	0.423													-	231471450	A	-	231471450	7	5	265	1	0	1	0	1	0	0	0	0	5311	372	13	0	139	0	EXOC8	1	231471450	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1827490	231471450	17779171	91	131380											
PCNXL2	80003	broad.mit.edu	37	chr1	233134088	233134088	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcctggctgccaccactCggggcattgttgccacctgt	10	16	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:233134088C>T	uc001hvl.2	-	32	5935	c.5700G>A	c.(5698-5700)CCG>CCA	p.P1900P	PCNXL2_uc001hvk.1_Silent_p.P552P|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1900						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCCACCACTCGGGGCATTGT	0.622													T	233134088	C	T	233134088	2	4	265	1	0	0	0	0	0	0	0	1	11592	871	31	1		1	PCNXL2	1	233134088	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1662638	233134088	16116533	92	131381											
PCNXL2	80003	broad.mit.edu	37	chr1	233313614	233313614	+	Frame_Shift_Del	DEL	T	T	-													gccagattttgatgtaaaaaTttaggaaacagcctgcattg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:233313614delT	uc001hvl.2	-	17	3442	c.3207delA	c.(3205-3207)AAAfs	p.K1069fs	PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1069						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGTAAAAATTTAGGAAACA	0.413													-	233313614	T	-	233313614	7	5	265	1	0	1	0	1	0	0	0	0	11592	1490	52	0	3278	0	PCNXL2	1	233313614	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	179526	233313614	15937007	93	131382											
FMN2	56776	broad.mit.edu	37	chr1	240256111	240256112	+	Frame_Shift_Ins	INS	-	-	C													gcgccgaggagcctgcagcgINSccccccactgccgtctcccc					rs149103365	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:240256111_240256112insC	uc010pyd.1	+	1	927_928	c.702_703insC	c.(700-705)GCGCCCfs	p.A234fs	FMN2_uc010pye.1_Frame_Shift_Ins_p.A234fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	234_235					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCCTGCAGCGCCCCCCACTGC	0.54													C	240256112	-	C	240256111	7	5	265	1	0	1	1	0	0	0	0	0	5950	1074	38	0	704	0	FMN2	1	240256111	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	6942497	240256111	8994510	94	131383											
FMN2	56776	broad.mit.edu	37	chr1	240371335	240371335	+	Frame_Shift_Del	DEL	C	C	-													ctctacccggagcgggcataCcccctccgcccccacttccc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:240371335delC	uc010pyd.1	+	5	3448	c.3223delC	c.(3223-3225)CCCfs	p.P1075fs	FMN2_uc010pye.1_Frame_Shift_Del_p.P1079fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1075	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCC	0.731													-	240371335	C	-	240371335	7	5	265	1	0	1	0	1	0	0	0	0	5950	507	18	0	3241	0	FMN2	1	240371335	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	115224	240371335	8879286	95	131384											
PLD5	200150	broad.mit.edu	37	chr1	242428713	242428713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgatttcaatattttgcGaagtcagctggagcaacttt	9	7	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:242428713G>A	uc001hzn.1	-	4	660	c.533C>T	c.(532-534)TCG>TTG	p.S178L	PLD5_uc001hzl.3_Missense_Mutation_p.S116L|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.S86L			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	178						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AATATTTTGCGAAGTCAGCTG	0.358													A	242428713	G	A	242428713	3	1	265	1	0	0	0	0	1	0	0	0	12049	1059	37	1	1105	1	PLD5	1	242428713	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2057378	242428713	6821908	96	131385											
KIF26B	55083	broad.mit.edu	37	chr1	245849742	245849742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcccggaaactcctgtcGatgatgagcagcaggcagct	13	11	0	2	rs73127009	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:245849742G>A	uc001ibf.1	+	12	3897	c.3457G>A	c.(3457-3459)GAT>AAT	p.D1153N	KIF26B_uc001ibg.1_Missense_Mutation_p.D771N|KIF26B_uc001ibh.1_Missense_Mutation_p.D395N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1153					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			AACTCCTGTCGATGATGAGCA	0.587													A	245849742	G	A	245849742	3	1	265	1	0	0	0	0	1	0	0	0	8295	1058	37	1	3503	1	KIF26B	1	245849742	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3421029	245849742	3400879	97	131386											
NLRP3	114548	broad.mit.edu	37	chr1	247588106	247588106	+	Frame_Shift_Del	DEL	G	G	-													ttccagtttgctgcagccccGgggagggagccaggagcacg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:247588105_247588105CG>C	uc001icr.3	+	4	1498	c.1360_1360CG>C	c.(1360-1362)cggfs	p.R454fs	NLRP3_uc001ics.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icu.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icw.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icv.3_Frame_Shift_Del_p.R454fs|NLRP3_uc010pyw.2_Frame_Shift_Del_p.R452fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.R452fs	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	454	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)			GCTGCAGCCCCGGGGAGGGAG	0.587													-	247588106	G	-	247588106	7	5	265	1	0	1	0	1	0	0	0	0	10478	1116	39	0	1371	0	NLRP3	1	247588106	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	1738364	247588106	1662515	98	131387											
NLRP3	114548	broad.mit.edu	37	chr1	247588307	247588307	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagttctacagcttcaTccacatgactttccaggagt	8	11	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:247588307T>A	uc001icr.2	+	5	1700	c.1562T>A	c.(1561-1563)ATC>AAC	p.I521N	NLRP3_uc001ics.2_Missense_Mutation_p.I521N|NLRP3_uc001icu.2_Missense_Mutation_p.I521N|NLRP3_uc001icw.2_Missense_Mutation_p.I521N|NLRP3_uc001icv.2_Missense_Mutation_p.I521N|NLRP3_uc010pyw.1_Missense_Mutation_p.I519N|NLRP3_uc001ict.1_Missense_Mutation_p.I519N	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	521	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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			TACAGCTTCATCCACATGACT	0.507													A	247588307	T	A	247588307	3	1	265	1	0	0	0	0	1	0	0	0	10478	1435	50	5	1572	5	NLRP3	1	247588307	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	201	247588307	1662314	99	131388											
OR2M5	127059	broad.mit.edu	37	chr1	248309098	248309098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcaatcatcatcgctTcctatgctcgagttattctg	7	11	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:248309098T>C	uc010pze.1	+	1	649	c.649T>C	c.(649-651)TCC>CCC	p.S217P		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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)			CATCATCGCTTCCTATGCTCG	0.423													C	248309098	T	C	248309098	3	2	265	1	0	0	0	0	1	0	0	0	11013	1783	62	3	651	3	OR2M5	1	248309098	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	720791	248309098	941523	100	131389											
OR2M4	26245	broad.mit.edu	37	chr1	248402974	248402974	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcccacctgtctgtggtCggactctactacggtgctgc	10	15	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:248402974C>T	uc010pzh.1	+	1	744	c.744C>T	c.(742-744)GTC>GTT	p.V248V		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	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)			TGTCTGTGGTCGGACTCTACT	0.522													T	248402974	C	T	248402974	2	4	265	1	0	0	0	0	0	0	0	1	11012	871	31	1		1	OR2M4	1	248402974	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	93876	248402974	847647	101	131390											
TPO	7173	broad.mit.edu	37	chr2	1491735	1491735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctggcgtccatcaacctGcagaggggccgggaccacgg	15	13	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:1491735G>A	uc002qww.2	+	10	1831	c.1740G>A	c.(1738-1740)CTG>CTA	p.L580L	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Silent_p.L580L|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Silent_p.L407L|TPO_uc010yip.1_Silent_p.L580L|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	580	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	CCATCAACCTGCAGAGGGGCC	0.592													A	1491735	G	A	1491735	2	1	265	1	0	0	0	0	0	0	0	1	16407	1306	46	2		2	TPO	2	1491735	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		1491735	241707638	102	131391											
TTC15	51112	broad.mit.edu	37	chr2	3469465	3469465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcggccggatttccctgcAggtacctgtgcacggtcaga	12	13	1	1	rs149394434		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:3469465A>G	uc002qxm.1	+	9	1981	c.1775A>G	c.(1774-1776)CAG>CGG	p.Q592R	TTC15_uc002qxn.1_Missense_Mutation_p.Q592R|TTC15_uc010ewm.1_Missense_Mutation_p.Q598R	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	592	TPR 2.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		ATTTCCCTGCAGGTACCTGTG	0.488													G	3469465	A	G	3469465	3	3	265	1	0	0	0	0	1	0	0	0	16679	202	7	3	1805	3	TTC15	2	3469465	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1977730	3469465	239729908	103	131392											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917819	10917820	+	Frame_Shift_Ins	INS	-	-	AG													tgctgcggggcagaccgacaINSgagagagagagagtgagggc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:10917818_10917819C>CAG	uc002ras.3	+	10	1042_1043	c.933_934C>CAG	c.(931-936)gacagafs	p.D311fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	311					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGCAGACCGACAGAGAGAGAGA	0.609													AG	10917820	-	AG	10917819	7	5	265	1	0	1	1	0	0	0	0	0	1181	180	7	0	972	0	ATP6V1C2	2	10917819	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	7448354	10917819	232281554	104	131393											
PUM2	23369	broad.mit.edu	37	chr2	20463159	20463159	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagtgcttgaagcacttcGatattttgcttctgctccag	10	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:20463159G>A	uc002rds.1	-	13	2043	c.2020C>T	c.(2020-2022)CGA>TGA	p.R674*	PUM2_uc002rdq.1_Nonsense_Mutation_p.R51*|PUM2_uc002rdt.1_Nonsense_Mutation_p.R674*|PUM2_uc002rdr.2_Nonsense_Mutation_p.R534*|PUM2_uc010yjy.1_Nonsense_Mutation_p.R595*|PUM2_uc002rdu.1_Nonsense_Mutation_p.R674*|PUM2_uc010yjz.1_Nonsense_Mutation_p.R613*	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	674	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCACTTCGATATTTTGCT	0.468													A	20463159	G	A	20463159	4	1	265	1	0	0	0	0	0	1	0	0	12826	1066	37	1	1206	1	PUM2	2	20463159	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	9545340	20463159	222736214	105	131394											
PUM2	23369	broad.mit.edu	37	chr2	20494174	20494174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgtgatgctgcttgcTgactggctgtgttatttgcc	13	8	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:20494174T>C	uc002rds.1	-	8	1138	c.1115A>G	c.(1114-1116)CAG>CGG	p.Q372R	PUM2_uc002rdt.1_Missense_Mutation_p.Q372R|PUM2_uc002rdr.2_Missense_Mutation_p.Q311R|PUM2_uc010yjy.1_Missense_Mutation_p.Q372R|PUM2_uc002rdu.1_Missense_Mutation_p.Q372R|PUM2_uc010yjz.1_Missense_Mutation_p.Q311R	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	372	Ala-rich.|Gln-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGCTTGCTGACTGGCTGT	0.478													C	20494174	T	C	20494174	3	2	265	1	0	0	0	0	1	0	0	0	12826	1580	55	3	2131	3	PUM2	2	20494174	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	31015	20494174	222705199	106	131395											
C2orf39	92749	broad.mit.edu	37	chr2	26667583	26667583	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgactctccttcacaGgcattttgctcttattgatg	7	11	4	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:26667583G>T	uc002rhg.2	+	10	1238	c.1164_splice	c.e10-1	p.R388_splice	C2orf39_uc010eym.1_Splice_Site	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749												0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTTCACAGGCATTTTGCT	0.488													T	26667583	G	T	26667583	5	4	265	1	0	0	0	0	0	0	1	0	2164	1014	35	5	1201	5	C2orf39	2	26667583	Splice_Site	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	6173409	26667583	216531790	107	131396											
PREB	10113	broad.mit.edu	37	chr2	27356049	27356049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtattatcgtggttgaagCacacaactttctgcagtgga	12	7	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:27356049C>T	uc002rix.1	-	3	735	c.482G>A	c.(481-483)TGC>TAC	p.C161Y	PREB_uc002riy.1_Missense_Mutation_p.C89Y|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.C161Y	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	161	WD 1.|Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGTTGAAGCACACAACTTT	0.542													T	27356049	C	T	27356049	3	4	265	1	0	0	0	0	1	0	0	0	12470	710	25	2	799	2	PREB	2	27356049	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	688466	27356049	215843324	108	131397											
WDR43	23160	broad.mit.edu	37	chr2	29136984	29136984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgatgttcactaccaTcagacctcctaatgagagcc	7	13	3	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:29136984T>C	uc002rmo.2	+	5	688	c.656T>C	c.(655-657)ATC>ACC	p.I219T		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	219	WD 5.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTCACTACCATCAGACCTCCT	0.423													C	29136984	T	C	29136984	3	2	265	1	0	0	0	0	1	0	0	0	17292	1435	50	3	674	3	WDR43	2	29136984	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1780935	29136984	214062389	109	131398											
EHD3	30845	broad.mit.edu	37	chr2	31483572	31483572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgatgcgggtgtaCggggccctcatgtggtcctt	15	11	1	1	rs147844646		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:31483572C>T	uc002rnu.2	+	4	1307	c.699C>T	c.(697-699)TAC>TAT	p.Y233Y	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	233					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			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					TGCGGGTGTACGGGGCCCTCA	0.577													T	31483572	C	T	31483572	2	4	265	1	0	0	0	0	0	0	0	1	4979	547	19	1		1	EHD3	2	31483572	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2346588	31483572	211715801	110	131399											
LTBP1	4052	broad.mit.edu	37	chr2	33589400	33589400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcgtcagaaaaaagatGtatacgaccggctgagtcaa	12	7	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:33589400G>A	uc002ros.2	+	30	4520	c.4520G>A	c.(4519-4521)TGT>TAT	p.C1507Y	LTBP1_uc002rot.2_Missense_Mutation_p.C1181Y|LTBP1_uc002rou.2_Missense_Mutation_p.C1180Y|LTBP1_uc002rov.2_Missense_Mutation_p.C1127Y|LTBP1_uc010ymz.1_Missense_Mutation_p.C1138Y|LTBP1_uc010yna.1_Missense_Mutation_p.C1085Y|LTBP1_uc010ynb.1_Missense_Mutation_p.C404Y	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1506					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAAAAAGATGTATACGACCG	0.418													A	33589400	G	A	33589400	3	1	265	1	0	0	0	0	1	0	0	0	9073	1377	48	4	4690	4	LTBP1	2	33589400	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2105828	33589400	209609973	111	131400											
LTBP1	4052	broad.mit.edu	37	chr2	33590553	33590554	+	Frame_Shift_Ins	INS	-	-	C													ggcatgcagtgtgccctctgINSccccctgaaggattcaggtg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:33590553_33590554insC	uc002ros.2	+	31	4697_4698	c.4697_4698insC	c.(4696-4698)TGCfs	p.C1566fs	LTBP1_uc002rot.2_Frame_Shift_Ins_p.C1240fs|LTBP1_uc002rou.2_Frame_Shift_Ins_p.C1239fs|LTBP1_uc002rov.2_Frame_Shift_Ins_p.C1186fs|LTBP1_uc010ymz.1_Frame_Shift_Ins_p.C1197fs|LTBP1_uc010yna.1_Frame_Shift_Ins_p.C1144fs|LTBP1_uc010ynb.1_Frame_Shift_Ins_p.C463fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1565	TB 4.				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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTGCCCTCTGCCCCCTGAAGG	0.54													C	33590554	-	C	33590553	7	5	265	1	0	1	1	0	0	0	0	0	9073	1319	46	0	4871	0	LTBP1	2	33590553	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1153	33590553	209608820	112	131401	676	2									
LTBP1	4052	broad.mit.edu	37	chr2	33590554	33590555	+	Frame_Shift_Ins	INS	-	-	C													gcatgcagtgtgccctctgcINScccctgaaggattcaggtga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:33590553_33590554G>GC	uc021vft.1	+	30	4717_4718	c.4694_4695G>GC	c.(4693-4695)tgcfs	p.C1565fs	LTBP1_uc002rou.3_Frame_Shift_Ins_p.C1239fs|LTBP1_uc002rov.3_Frame_Shift_Ins_p.C1186fs|LTBP1_uc010ymz.2_Frame_Shift_Ins_p.C1197fs|LTBP1_uc010yna.2_Frame_Shift_Ins_p.C1144fs|LTBP1_uc010ynb.2_Frame_Shift_Ins_p.C463fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1565	TB 4.				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)				TGTGCCCTCTGCCCCCTGAAGG	0.54													C	33590555	-	C	33590554	7	5	265	1	0	1	1	0	0	0	0	0	9073	747	26	0	4872	0	LTBP1	2	33590554	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	33590554	209608819	113	131402	676	2									
CEBPZ	10153	broad.mit.edu	37	chr2	37430154	37430154	+	Splice_Site	DEL	A	A	-													ttttcttttttcttggccctAaaaaaaattgtaagtctaca							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269													-	37430154	A	-	37430154	8	5	265	1	0	1	0	1	0	0	1	0	3204	377	13	0		0	CEBPZ	2	37430154	Splice_Site	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	3839600	37430154	205769219	114	131403											
ZFP36L2	678	broad.mit.edu	37	chr2	43452885	43452886	+	Frame_Shift_Del	DEL	TC	TC	-													gttgaggttggccagggattTctctgtctgccaaagggagg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:43452885_43452886delTC	uc002rsv.3	-	2	348_349	c.57_58delGA	c.(55-60)GAGAAAfs	p.E19fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	19_20					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCAGGGATTTCTCTGTCTGCC	0.624													-	43452886	TC	-	43452885	7	5	265	1	0	1	0	1	0	0	0	0	17644	1792	62	0	1430	0	ZFP36L2	2	43452885	Frame_Shift_Del	DEL	TC	TCGA-HU-A4G9-01A-11D-A24D-08	6022731	43452885	199746488	115	131404											
PRKCE	5581	broad.mit.edu	37	chr2	46234741	46234741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcaaggccaggccaagCgcctgggcctggatgagttc	15	13	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:46234741C>T	uc002rut.2	+	9	1401	c.1204C>T	c.(1204-1206)CGC>TGC	p.R402C		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	402					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			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCAGGCCAAGCGCCTGGGCCT	0.582													T	46234741	C	T	46234741	3	4	265	1	0	0	0	0	1	0	0	0	12511	768	27	1	1238	1	PRKCE	2	46234741	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2781856	46234741	196964632	116	131405											
NRXN1	9378	broad.mit.edu	37	chr2	50574000	50574001	+	Frame_Shift_Ins	INS	-	-	C													atccaaagcagggccaggcgINScccccctgcgccgccgccgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:50574000_50574001insC	uc010fbp.2	-	1	894_895	c.87_88insG	c.(85-90)GGGCGCfs	p.G29fs	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	29_30					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGGCCAGGCGCCCCCCTGcgc	0.579													C	50574001	-	C	50574000	7	5	265	1	0	1	1	0	0	0	0	0	10665	1087	38	0	1358	0	NRXN1	2	50574000	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	4339259	50574000	192625373	117	131406											
SPTBN1	6711	broad.mit.edu	37	chr2	54856759	54856759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtcgggcatcgaggagCggtataaggaggtggcagag	20	6	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:54856759C>T	uc002rxu.2	+	14	2737	c.2488C>T	c.(2488-2490)CGG>TGG	p.R830W	SPTBN1_uc002rxv.1_Missense_Mutation_p.R830W|SPTBN1_uc002rxx.2_Missense_Mutation_p.R817W	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	830	Spectrin 6.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CATCGAGGAGCGGTATAAGGA	0.642													T	54856759	C	T	54856759	3	4	265	1	0	0	0	0	1	0	0	0	15118	759	27	1	2651	1	SPTBN1	2	54856759	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4282759	54856759	188342614	118	131407											
C2orf42	54980	broad.mit.edu	37	chr2	70406777	70406777	+	Splice_Site	DEL	A	A	-													caataatctctttaagacctAaaaaaaagaagatttctgaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353													-	70406777	A	-	70406777	8	5	265	1	0	1	0	1	0	0	1	0	2166	377	13	0		0	C2orf42	2	70406777	Splice_Site	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	15550018	70406777	172792596	119	131408											
VAX2	25806	broad.mit.edu	37	chr2	71160188	71160188	+	Frame_Shift_Del	DEL	C	C	-													cagcgtcccccccactgccgCcccctctgccagctgtctgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:71160188delC	uc002shh.2	+	3	759	c.727delC	c.(727-729)CCCfs	p.P243fs	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	243					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCCACTGCCGCCCCCTCTGCC	0.672													-	71160188	C	-	71160188	7	5	265	1	0	1	0	1	0	0	0	0	17132	739	26	0	737	0	VAX2	2	71160188	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	753411	71160188	172039185	120	131409											
TET3	200424	broad.mit.edu	37	chr2	74326560	74326560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcggagccatccaggtgcTcaccgccttcccccgcgagg	12	18	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:74326560T>C	uc002skb.3	+	8	3020	c.3020T>C	c.(3019-3021)CTC>CCC	p.L1007P		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1007							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ATCCAGGTGCTCACCGCCTTC	0.627													C	74326560	T	C	74326560	3	2	265	1	0	0	0	0	1	0	0	0	15768	1551	54	3	3050	3	TET3	2	74326560	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	3166372	74326560	168872813	121	131410											
REG3G	130120	broad.mit.edu	37	chr2	79255050	79255050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccactgtgggagcctgtcaAgaagcacaggtaagaaacag	13	9	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:79255050A>G	uc002snw.2	+	5	536	c.451A>G	c.(451-453)AGA>GGA	p.R151G	REG3G_uc002snx.2_Missense_Mutation_p.R151G|REG3G_uc010ffu.2_Missense_Mutation_p.R105G	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	151	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						GAGCCTGTCAAGAAGCACAGG	0.478													G	79255050	A	G	79255050	3	3	265	1	0	0	0	0	1	0	0	0	13213	64	3	3	465	3	REG3G	2	79255050	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	4928490	79255050	163944323	122	131411											
SLC9A4	389015	broad.mit.edu	37	chr2	103124628	103124628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattttctacagtggtgttcGaggagctggaagtttttcac	11	7	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:103124628G>A	uc002tbz.3	+	5	1746	c.1289G>A	c.(1288-1290)CGA>CAA	p.R430Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	430					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						AGTGGTGTTCGAGGAGCTGGA	0.408													A	103124628	G	A	103124628	3	1	265	1	0	0	0	0	1	0	0	0	14716	1058	37	1	1307	1	SLC9A4	2	103124628	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	23869578	103124628	140074745	123	131412											
NCK2	8440	broad.mit.edu	37	chr2	106498349	106498349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgccctgcaccctgcGcacgccccacagataagcta	10	18	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:106498349G>A	uc002tdg.2	+	4	1234	c.792G>A	c.(790-792)GCG>GCA	p.A264A	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.A264A	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	264					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			ovary(1)|lung(1)	2						TGCACCCTGCGCACGCCCCAC	0.667													A	106498349	G	A	106498349	2	1	265	1	0	0	0	0	0	0	0	1	10220	1074	38	1		1	NCK2	2	106498349	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3373721	106498349	136701024	124	131413											
ST6GAL2	84620	broad.mit.edu	37	chr2	107423211	107423211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaccaccttgcccttgcGatgcaaatccccctgcgtgc	8	16	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:107423211G>A	uc002tdq.2	-	6	1632	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C	ST6GAL2_uc002tdr.2_Missense_Mutation_p.R505C	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	505	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TTGCCCTTGCGATGCAAATCC	0.577													A	107423211	G	A	107423211	3	1	265	1	0	0	0	0	1	0	0	0	15221	1058	37	1	80	1	ST6GAL2	2	107423211	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	924862	107423211	135776162	125	131414											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257147	114257147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaagatgcccggcagcCggcaaagcccccctactcgt	10	17	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:114257147C>T	uc002tjw.3	+	1	487	c.314C>T	c.(313-315)CCG>CTG	p.P105L		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	105					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				0						GCCCGGCAGCCGGCAAAGCCC	0.657													T	114257147	C	T	114257147	3	4	265	1	0	0	0	0	1	0	0	0	6000	652	23	1	316	1	FOXD4L1	2	114257147	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6833936	114257147	128942226	126	131415											
NCKAP5	344148	broad.mit.edu	37	chr2	133540153	133540153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggtgggcaactgcggcGgtcactgcctggttccccaa	16	12	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:133540153G>A	uc002ttp.2	-	14	4605	c.4231C>T	c.(4231-4233)CGC>TGC	p.R1411C	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1411							protein binding				0						CAACTGCGGCGGTCACTGCCT	0.597													A	133540153	G	A	133540153	3	1	265	1	0	0	0	0	1	0	0	0	10223	1116	39	1	1526	1	NCKAP5	2	133540153	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	19283006	133540153	109659220	127	131416											
TMEM163	81615	broad.mit.edu	37	chr2	135215710	135215710	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccgcgctcagaagaatggaGaagcccatcacgccacccac	9	16	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:135215710G>T	uc002ttx.2	-	7	768	c.702C>A	c.(700-702)TTC>TTA	p.F234L	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	234	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		GAAGAATGGAGAAGCCCATCA	0.542													T	135215710	G	T	135215710	3	4	265	1	0	0	0	0	1	0	0	0	16075	933	33	5	175	5	TMEM163	2	135215710	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1675557	135215710	107983663	128	131417											
THSD7B	80731	broad.mit.edu	37	chr2	138000026	138000026	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggtcttttcacattgacaGatgtccagattctactcgac	7	10	3	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:138000026G>T	uc002tva.1	+	9	2058	c.2058_splice	c.e9-1	p.R686_splice	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Splice_Site_p.R576_splice	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACATTGACAGATGTCCAGAT	0.368													T	138000026	G	T	138000026	5	4	265	1	0	0	0	0	0	0	1	0	15877	956	33	5	2091	5	THSD7B	2	138000026	Splice_Site	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2784316	138000026	105199347	129	131418											
NEB	4703	broad.mit.edu	37	chr2	152581448	152581448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgacatatagtcttagCaacatcaccatccattcgat	5	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:152581448C>A	uc010fnx.2	-	7	621	c.430G>T	c.(430-432)GCT>TCT	p.A144S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	144					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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAGTCTTAGCAACATCACCA	0.378													A	152581448	C	A	152581448	3	1	265	1	0	0	0	0	1	0	0	0	10302	710	25	5	25960	5	NEB	2	152581448	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	14581422	152581448	90617925	130	131419											
ACVR1C	130399	broad.mit.edu	37	chr2	158390496	158390496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatacgaagagcagttagGcgggccgctccgttggcata	13	9	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:158390496G>A	uc002tzk.3	-	9	1659	c.1416C>T	c.(1414-1416)CGC>CGT	p.R472R	ACVR1C_uc002tzl.3_Silent_p.R392R|ACVR1C_uc010fof.2_Silent_p.R315R|ACVR1C_uc010foe.2_Silent_p.R422R	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	472	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						GAGCAGTTAGGCGGGCCGCTC	0.388													A	158390496	G	A	158390496	2	1	265	1	0	0	0	0	0	0	0	1	222	1190	42	2		2	ACVR1C	2	158390496	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5809048	158390496	84808877	131	131420											
CSRNP3	80034	broad.mit.edu	37	chr2	166535568	166535568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggagcagcttttgcagcGgagtcacagattctagcacg	13	9	2	1	rs139133187		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:166535568G>A	uc002udf.2	+	7	1439	c.1063G>A	c.(1063-1065)GGA>AGA	p.G355R	CSRNP3_uc002udg.2_Missense_Mutation_p.G355R	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	355	Glu-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			ovary(3)|large_intestine(1)|skin(1)	5						CTTTTGCAGCGGAGTCACAGA	0.433													A	166535568	G	A	166535568	3	1	265	1	0	0	0	0	1	0	0	0	3965	1117	39	1	1077	1	CSRNP3	2	166535568	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	8145072	166535568	76663805	132	131421											
TTN	7273	broad.mit.edu	37	chr2	179395589	179395589	+	Frame_Shift_Del	DEL	T	T	-													ggttctggagatttcactcgTtttggagacttaactgcttc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:179395589delT	uc010zfg.1	-	307	98273	c.98049delA	c.(98047-98049)AAAfs	p.K32683fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.K26378fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K26311fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K26186fs|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33610							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCACTCGTTTTGGAGACT	0.502													-	179395589	T	-	179395589	7	5	265	1	0	1	0	1	0	0	0	0	16732	1722	60	0	2246	0	TTN	2	179395589	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	12860021	179395589	63803784	133	131422											
PMS1	5378	broad.mit.edu	37	chr2	190718672	190718672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtatttctagttaatccGacatcattacaatctgaaat	4	8	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:190718672G>A	uc002urh.3	+	8	1359	c.830G>A	c.(829-831)CGA>CAA	p.R277Q	PMS1_uc010zga.1_Missense_Mutation_p.R238Q|PMS1_uc010zgb.1_Missense_Mutation_p.R216Q|PMS1_uc002urk.3_Missense_Mutation_p.R238Q|PMS1_uc002uri.3_Missense_Mutation_p.R277Q|PMS1_uc010zgc.1_Missense_Mutation_p.R101Q|PMS1_uc010zgd.1_Missense_Mutation_p.R101Q|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.R238Q|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.R62Q|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_5'UTR	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	277					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TAGTTAATCCGACATCATTAC	0.274			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					A	190718672	G	A	190718672	3	1	265	1	0	0	0	0	1	0	0	0	12142	1058	37	1	856	1	PMS1	2	190718672	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	11323083	190718672	52480701	134	131423											
ANKRD44	91526	broad.mit.edu	37	chr2	197986076	197986076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgttaacatctgcccCgttgtttactaacaattcaa	5	10	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:197986076C>A	uc002uuc.2	-	8	1053	c.886G>T	c.(886-888)GGG>TGG	p.G296W	ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.G271W|ANKRD44_uc002uub.2_Missense_Mutation_p.G296W|ANKRD44_uc010zgw.1_Missense_Mutation_p.G224W	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	296	ANK 9.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACATCTGCCCCGTTGTTTACT	0.428													A	197986076	C	A	197986076	3	1	265	1	0	0	0	0	1	0	0	0	672	652	23	5	2024	5	ANKRD44	2	197986076	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7267404	197986076	45213297	135	131424											
KCTD18	130535	broad.mit.edu	37	chr2	201362476	201362476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaaagaattgcactgtacCttttccttcccaagcatcaa	4	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:201362476C>A	uc002uvs.2	-	5	1178	c.661G>T	c.(661-663)GGT>TGT	p.G221C	KCTD18_uc002uvt.2_Missense_Mutation_p.G221C|KCTD18_uc002uvu.1_Missense_Mutation_p.G221C	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						TGCACTGTACCTTTTCCTTCC	0.343													A	201362476	C	A	201362476	3	1	265	1	0	0	0	0	1	0	0	0	8105	695	24	5	631	5	KCTD18	2	201362476	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3376400	201362476	41836897	136	131425											
CYP20A1	57404	broad.mit.edu	37	chr2	204150338	204150338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataatgtttgacctagtgtGtacctgggcaatctgttttt	9	6	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:204150338G>A	uc002uzv.3	+	9	1476	c.854G>A	c.(853-855)TGT>TAT	p.C285Y	CYP20A1_uc002uzx.3_Missense_Mutation_p.C183Y|CYP20A1_uc010zif.1_Missense_Mutation_p.C293Y|CYP20A1_uc002uzy.3_Missense_Mutation_p.C183Y|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.C15Y	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	285						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						GACCTAGTGTGTACCTGGGCA	0.328													A	204150338	G	A	204150338	3	1	265	1	0	0	0	0	1	0	0	0	4152	1377	48	4	888	4	CYP20A1	2	204150338	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2787862	204150338	39049035	137	131426											
PARD3B	117583	broad.mit.edu	37	chr2	205969158	205969158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcactataggattccacGcagaacttggaagacagaga	10	8	1	3	rs115490230	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:205969158G>A	uc002var.1	+	5	720	c.513G>A	c.(511-513)ACG>ACA	p.T171T	PARD3B_uc010fub.1_Silent_p.T171T|PARD3B_uc002vao.1_Silent_p.T171T|PARD3B_uc002vap.1_Silent_p.T171T|PARD3B_uc002vaq.1_Silent_p.T171T	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	171					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGGATTCCACGCAGAACTTGG	0.368													A	205969158	G	A	205969158	2	1	265	1	0	0	0	0	0	0	0	1	11444	1074	38	1		1	PARD3B	2	205969158	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1818820	205969158	37230215	138	131427											
PARD3B	117583	broad.mit.edu	37	chr2	206364664	206364664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgtatccagaagttgcGgaaagagtattatcaggctc	11	8	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:206364664G>A	uc002var.1	+	21	3296	c.3089G>A	c.(3088-3090)CGG>CAG	p.R1030Q	PARD3B_uc002vao.1_Missense_Mutation_p.R929Q|PARD3B_uc002vap.1_Missense_Mutation_p.R968Q|PARD3B_uc002vaq.1_Missense_Mutation_p.R961Q	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1030					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGAAGTTGCGGAAAGAGTAT	0.463													A	206364664	G	A	206364664	3	1	265	1	0	0	0	0	1	0	0	0	11444	1116	39	1	3171	1	PARD3B	2	206364664	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	395506	206364664	36834709	139	131428											
FN1	2335	broad.mit.edu	37	chr2	216232726	216232726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaagcacgagtcatccGtaggttggttcaagccttcg	12	10	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:216232726G>A	uc002vfa.2	-	42	7144	c.6878C>T	c.(6877-6879)ACG>ATG	p.T2293M	FN1_uc002vfb.2_Missense_Mutation_p.T2081M|FN1_uc002vfc.2_Missense_Mutation_p.T2056M|FN1_uc002vfd.2_Missense_Mutation_p.T2237M|FN1_uc002vfe.2_Missense_Mutation_p.T2171M|FN1_uc002vff.2_Missense_Mutation_p.T2146M|FN1_uc002vfg.2_Missense_Mutation_p.T2112M|FN1_uc002vfh.2_Missense_Mutation_p.T1992M|FN1_uc002vfi.2_Missense_Mutation_p.T2262M|FN1_uc002vfj.2_Missense_Mutation_p.T2083M|FN1_uc002vez.2_Missense_Mutation_p.T456M|FN1_uc010zjp.1_Missense_Mutation_p.T830M|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2202					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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CGAGTCATCCGTAGGTTGGTT	0.418													A	216232726	G	A	216232726	3	1	265	1	0	0	0	0	1	0	0	0	5962	1145	40	1	575	1	FN1	2	216232726	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	9868062	216232726	26966647	140	131429											
FN1	2335	broad.mit.edu	37	chr2	216240005	216240005	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggaggagacccaggcTtctcatacttgatgatgtag	12	9	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:216240005T>G	uc002vfa.2	-	38	6355	c.6089A>C	c.(6088-6090)AAG>ACG	p.K2030T	FN1_uc002vfb.2_Missense_Mutation_p.K1849T|FN1_uc002vfc.2_Missense_Mutation_p.K1849T|FN1_uc002vfd.2_Missense_Mutation_p.K2030T|FN1_uc002vfe.2_Missense_Mutation_p.K1939T|FN1_uc002vff.2_Missense_Mutation_p.K1939T|FN1_uc002vfg.2_Missense_Mutation_p.K1849T|FN1_uc002vfh.2_Missense_Mutation_p.K1849T|FN1_uc002vfi.2_Missense_Mutation_p.K2030T|FN1_uc002vfj.2_Missense_Mutation_p.K1940T|FN1_uc002vez.2_Missense_Mutation_p.K224T|FN1_uc010zjp.1_Missense_Mutation_p.K567T|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.K392T|FN1_uc010fvd.1_Missense_Mutation_p.K121T	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1939	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	AGACCCAGGCTTCTCATACTT	0.557													G	216240005	T	G	216240005	3	3	265	1	0	0	0	0	1	0	0	0	5962	1609	56	5	1380	5	FN1	2	216240005	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	7279	216240005	26959368	141	131430											
FAM124B	79843	broad.mit.edu	37	chr2	225266089	225266089	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggatctcggagccacAgtgcacctgcctcacccccc	8	20	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:225266089A>C	uc002vnx.2	-	1	623	c.397T>G	c.(397-399)TGT>GGT	p.C133G	FAM124B_uc002vnw.2_Missense_Mutation_p.C133G	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	133							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCGGAGCCACAGTGCACCTGC	0.547													C	225266089	A	C	225266089	3	2	265	1	0	0	0	0	1	0	0	0	5426	188	7	5	1069	5	FAM124B	2	225266089	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	9026084	225266089	17933284	142	131431											
SP100	6672	broad.mit.edu	37	chr2	231326044	231326044	+	Frame_Shift_Del	DEL	A	A	-													tctgtgcgactggtggatatAaaaaaggaaaagccattttc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:231326044delA	uc002vqt.2	+	9	1029	c.888delA	c.(886-888)ATAfs	p.I296fs	SP100_uc002vqs.2_Frame_Shift_Del_p.I296fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I296fs|SP100_uc010zmb.1_Frame_Shift_Del_p.I296fs|SP100_uc002vqq.1_Frame_Shift_Del_p.I296fs|SP100_uc002vqr.1_Frame_Shift_Del_p.I271fs|SP100_uc010zmc.1_Frame_Shift_Del_p.I271fs|SP100_uc002vqv.1_Frame_Shift_Del_p.I260fs	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	296	PxVxL motif.				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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		TGGTGGATATAAAAAAGGAAA	0.398													-	231326044	A	-	231326044	7	5	265	1	0	1	0	1	0	0	0	0	14960	352	13	0	922	0	SP100	2	231326044	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	6059955	231326044	11873329	143	131432											
NMUR1	10316	broad.mit.edu	37	chr2	232393149	232393149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgcaggctggtgttggGcagggagcagagcatggcaa	19	8	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:232393149G>A	uc002vry.3	-	2	693	c.583C>T	c.(583-585)CCC>TCC	p.P195S		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	195	Helical; Name=4; (Potential).				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			lung(3)|central_nervous_system(1)|pancreas(1)	5		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)		CTGGTGTTGGGCAGGGAGCAG	0.697													A	232393149	G	A	232393149	3	1	265	1	0	0	0	0	1	0	0	0	10506	1203	42	2	705	2	NMUR1	2	232393149	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1067105	232393149	10806224	144	131433											
ALPP	250	broad.mit.edu	37	chr2	233246214	233246214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctccaaccagggagcccCgagtatcggcagcagtcagc	11	16	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:233246214C>T	uc002vsq.2	+	11	1482	c.1317C>T	c.(1315-1317)CCC>CCT	p.P439P	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	439						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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)		CAGGGAGCCCCGAGTATCGGC	0.672													T	233246214	C	T	233246214	2	4	265	1	0	0	0	0	0	0	0	1	548	639	23	1		1	ALPP	2	233246214	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	853065	233246214	9953159	145	131434											
AGAP1	116987	broad.mit.edu	37	chr2	236877175	236877175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagccccaagctcgaccCgcccccctcccctcacgcca	5	26	1	0	rs35347272		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:236877175C>T	uc002vvs.2	+	13	2148	c.1553C>T	c.(1552-1554)CCG>CTG	p.P518L	AGAP1_uc002vvt.2_Missense_Mutation_p.P465L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	518	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AAGCTCGACCCGCCCCCCTCC	0.577													T	236877175	C	T	236877175	3	4	265	1	0	0	0	0	1	0	0	0	366	652	23	1	1603	1	AGAP1	2	236877175	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3630961	236877175	6322198	146	131435											
COL6A3	1293	broad.mit.edu	37	chr2	238283516	238283516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgggcctggtccggtcgCtgtactgcaccacggccacg	13	16	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:238283516C>T	uc002vwl.2	-	8	3503	c.3218G>A	c.(3217-3219)AGC>AAC	p.S1073N	COL6A3_uc002vwo.2_Missense_Mutation_p.S867N|COL6A3_uc010znj.1_Missense_Mutation_p.S466N|COL6A3_uc002vwq.2_Missense_Mutation_p.S867N|COL6A3_uc002vwr.2_Missense_Mutation_p.S666N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1073	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		GGTCCGGTCGCTGTACTGCAC	0.622													T	238283516	C	T	238283516	3	4	265	1	0	0	0	0	1	0	0	0	3701	797	28	2	6510	2	COL6A3	2	238283516	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1406341	238283516	4915857	147	131436											
COL6A3	1293	broad.mit.edu	37	chr2	238296516	238296516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaccccttcctccacgcGgctgccccctgcccgggtga	12	19	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:238296516G>A	uc002vwl.2	-	4	1306	c.1021C>T	c.(1021-1023)CGC>TGC	p.R341C	COL6A3_uc002vwo.2_Missense_Mutation_p.R135C|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.R135C|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.R341C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	341	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		TCCTCCACGCGGCTGCCCCCT	0.617													A	238296516	G	A	238296516	3	1	265	1	0	0	0	0	1	0	0	0	3701	1116	39	1	8723	1	COL6A3	2	238296516	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	13000	238296516	4902857	148	131437											
HDAC4	9759	broad.mit.edu	37	chr2	240002800	240002800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggctcacctgaaggccGccaagtactcagcgtctccc	12	15	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:240002800G>A	uc002vyk.3	-	22	3518	c.2726C>T	c.(2725-2727)GCG>GTG	p.A909V	HDAC4_uc010fyy.2_Missense_Mutation_p.A866V	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	909	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			breast(3)|skin(2)|ovary(1)	6		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)		CCTGAAGGCCGCCAAGTACTC	0.597													A	240002800	G	A	240002800	3	1	265	1	0	0	0	0	1	0	0	0	7009	1087	38	1	552	1	HDAC4	2	240002800	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1706284	240002800	3196573	149	131438											
CPNE9	151835	broad.mit.edu	37	chr3	9767682	9767682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtactatgttctgctcatcAtcactgatggggtcatctct	8	10	6	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:9767682A>G	uc003bsd.2	+	17	1462	c.1291A>G	c.(1291-1293)ATC>GTC	p.I431V		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	431	VWFA.									ovary(2)	2	Medulloblastoma(99;0.227)					TCTGCTCATCATCACTGATGG	0.428													G	9767682	A	G	9767682	3	3	265	1	0	0	0	0	1	0	0	0	3819	217	8	3	1357	3	CPNE9	3	9767682	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08		9767682	188254748	150	131439											
NUP210	23225	broad.mit.edu	37	chr3	13461671	13461671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcggcggaggggcccGccgccaacagcaccgacagc	15	18	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:13461671G>A	uc003bxv.1	-	1	139	c.56C>T	c.(55-57)GCG>GTG	p.A19V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	19					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GGAGGGGCCCGCCGCCAACAG	0.473													A	13461671	G	A	13461671	3	1	265	1	0	0	0	0	1	0	0	0	10760	1087	38	1	5767	1	NUP210	3	13461671	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3693989	13461671	184560759	151	131440											
SLC6A6	6533	broad.mit.edu	37	chr3	14489115	14489115	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgcctccgttgtaatTgtgtccctcctgaatgtcta	9	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:14489115T>C	uc010heg.2	+	12	681	c.390T>C	c.(388-390)ATT>ATC	p.I130I	SLC6A6_uc003byp.2_Silent_p.I130I|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.I130I|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	130	Helical; Name=3; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						CCGTTGTAATTGTGTCCCTCC	0.542													C	14489115	T	C	14489115	2	2	265	1	0	0	0	0	0	0	0	1	14688	1800	63	3		3	SLC6A6	3	14489115	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1027444	14489115	183533315	152	131441											
PDCD6IP	10015	broad.mit.edu	37	chr3	33907950	33907950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggacaggctccataccCgggaccccagcagccttcat	9	17	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:33907950C>T	uc003cfx.2	+	18	2695	c.2540C>T	c.(2539-2541)CCG>CTG	p.P847L	PDCD6IP_uc003cfy.2_Missense_Mutation_p.P852L|PDCD6IP_uc011axw.1_Missense_Mutation_p.P628L	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	847	Pro-rich.|Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						GCTCCATACCCGGGACCCCAG	0.522													T	33907950	C	T	33907950	3	4	265	1	0	0	0	0	1	0	0	0	11624	652	23	1	2625	1	PDCD6IP	3	33907950	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	19418835	33907950	164114480	153	131442											
DCLK3	85443	broad.mit.edu	37	chr3	36763063	36763063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgtaagttggggtcccacAcacagtaaatataggtctca	9	9	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:36763063A>G	uc003cgi.2	-	3	2031	c.1540T>C	c.(1540-1542)TGT>CGT	p.C514R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	514	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						GGGGTCCCACACACAGTAAAT	0.418													G	36763063	A	G	36763063	3	3	265	1	0	0	0	0	1	0	0	0	4293	159	6	3	418	3	DCLK3	3	36763063	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2855113	36763063	161259367	154	131443											
TRANK1	9881	broad.mit.edu	37	chr3	36872969	36872969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggccaggacgtggtctCggtcttctaatgccagttca	13	10	4	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:36872969C>T	uc003cgj.2	-	12	6625	c.6323G>A	c.(6322-6324)CGA>CAA	p.R2108Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2658					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GACGTGGTCTCGGTCTTCTAA	0.532													T	36872969	C	T	36872969	3	4	265	1	0	0	0	0	1	0	0	0	16451	884	31	1	816	1	TRANK1	3	36872969	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	109906	36872969	161149461	155	131444											
TRANK1	9881	broad.mit.edu	37	chr3	36876253	36876253	+	Splice_Site	DEL	T	T	-													gagagaataaaaccacctacTtttccactgcaatagcagct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:36876252_36876252CT>C	uc003cgj.3	-	20	5779	c.5531_splice	c.e20+1	p.K1844_splice		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1844					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						AAACCACCTACTTTTCCACTG	0.478													-	36876253	T	-	36876253	8	5	265	1	0	1	0	1	0	0	1	0	16451	1623	56	0	3262	0	TRANK1	3	36876253	Splice_Site	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	3284	36876253	161146177	156	131445											
LRRFIP2	9209	broad.mit.edu	37	chr3	37114286	37114286	+	Frame_Shift_Del	DEL	T	T	-													aatttcatttcataccccaaTttttttatctttccaaagaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:37114285_37114285AT>A	uc003cgp.2	-	21	1883	c.1460_1460AT>T	c.(1459-1461)attfs	p.I487fs	LRRFIP2_uc011ayf.1_Frame_Shift_Del_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	487					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						TCATACCCCAATTTTTTTATC	0.398													-	37114286	T	-	37114286	7	5	265	1	0	1	0	1	0	0	0	0	9028	1493	52	0	738	0	LRRFIP2	3	37114286	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	238033	37114286	160908144	157	131446											
HHATL	57467	broad.mit.edu	37	chr3	42735292	42735292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcggaatgctccccaccAatgtggttatacacatatct	7	12	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:42735292A>G	uc003clw.2	-	11	1212	c.1065T>C	c.(1063-1065)ATT>ATC	p.I355I	HHATL_uc003clx.2_Silent_p.I355I	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	355					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCTCCCCACCAATGTGGTTAT	0.557													G	42735292	A	G	42735292	2	3	265	1	0	0	0	0	0	0	0	1	7090	126	5	3		3	HHATL	3	42735292	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	5621006	42735292	155287138	158	131447											
KIAA1143	57456	broad.mit.edu	37	chr3	44795778	44795778	+	Frame_Shift_Del	DEL	T	T	-													cttcaactgacaggtctcccTtttttaaaaccaccacttga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:44795777_44795777CT>C	uc011bac.2	-	1	271	c.192_192AG>G	c.(190-192)aagfs	p.K64fs		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	Homo sapiens KIAA1143 (KIAA1143), mRNA.	64										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)		ACAGGTCTCCCTTTTTTAAAA	0.398													-	44795778	T	-	44795778	7	5	265	1	0	1	0	1	0	0	0	0	8209	1609	56	0	281	0	KIAA1143	3	44795778	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	2060486	44795778	153226652	159	131448											
PTH1R	5745	broad.mit.edu	37	chr3	46943283	46943283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcttcatcaatatcGtccgggtgctcgccaccaag	7	15	4	0	rs148778122		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:46943283G>A	uc003cqm.2	+	13	1347	c.1144G>A	c.(1144-1146)GTC>ATC	p.V382I	PTH1R_uc003cqn.2_Missense_Mutation_p.V382I	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	382	Helical; Name=5; (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						CATCAATATCGTCCGGGTGCT	0.667									Ollier_disease_/_Maffuci_syndrome				A	46943283	G	A	46943283	3	1	265	1	0	0	0	0	1	0	0	0	12758	1145	40	1	1186	1	PTH1R	3	46943283	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2147505	46943283	151079147	160	131449											
ARIH2	10425	broad.mit.edu	37	chr3	49004695	49004695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagttctcgtcaaggaCggcgtgggcgtgggtgagtc	17	9	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49004695C>T	uc003cvb.2	+	6	837	c.525C>T	c.(523-525)GAC>GAT	p.D175D	ARIH2_uc003cvc.2_Silent_p.D175D|ARIH2_uc003cvf.2_Silent_p.D93D|ARIH2_uc010hkl.2_Silent_p.D175D	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	175	RING-type 1; atypical.				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCGTCAAGGACGGCGTGGGCG	0.488													T	49004695	C	T	49004695	2	4	265	1	0	0	0	0	0	0	0	1	924	535	19	1		1	ARIH2	3	49004695	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2061412	49004695	149017735	161	131450											
DAG1	1605	broad.mit.edu	37	chr3	49548245	49548245	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgcctccagtggagataTcatcaaggtgagactggata	12	7	2	2	rs149218670	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49548245T>G	uc003cxc.3	+	2	696	c.278T>G	c.(277-279)ATC>AGC	p.I93S		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	93	Required for laminin recognition.				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTGGAGATATCATCAAGGTG	0.448													G	49548245	T	G	49548245	3	3	265	1	0	0	0	0	1	0	0	0	4225	1435	50	5	280	5	DAG1	3	49548245	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	543550	49548245	148474185	162	131451											
CDHR4	389118	broad.mit.edu	37	chr3	49836474	49836474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatatggctaaggtcccgcTgcacatccacagagagtgag	13	10	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49836474T>C	uc010hkz.2	-	3	365	c.356A>G	c.(355-357)CAG>CGG	p.Q119R	CDHR4_uc003cxp.2_Missense_Mutation_p.Q119R|CDHR4_uc011bcw.1_Missense_Mutation_p.Q119R	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	cadherin-like 29 precursor	119	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						AAGGTCCCGCTGCACATCCAC	0.592													C	49836474	T	C	49836474	3	2	265	1	0	0	0	0	1	0	0	0	3121	1580	55	3	2078	3	CDHR4	3	49836474	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	288229	49836474	148185956	163	131452											
MST1R	4486	broad.mit.edu	37	chr3	49929015	49929015	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcatctctgtgatgccTgcagagcagcgcaagtcagg	13	11	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49929015T>C	uc003cxy.3	-	16	3617	c.3353_splice	c.e16-1	p.R1118_splice	MST1R_uc011bdc.1_Splice_Site	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor						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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGTGATGCCTGCAGAGCAGC	0.572													C	49929015	T	C	49929015	5	2	265	1	0	0	0	0	0	0	1	0	9891	1594	55	3	871	3	MST1R	3	49929015	Splice_Site	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	92541	49929015	148093415	164	131453											
ITIH4	3700	broad.mit.edu	37	chr3	52854794	52854794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatcagcatcggatgCggagacactgtaggtggagc	15	9	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:52854794C>T	uc003dfz.2	-	13	1723	c.1687G>A	c.(1687-1689)GCA>ACA	p.A563T	ITIH4_uc011bel.1_Missense_Mutation_p.A293T|ITIH4_uc003dfy.2_Missense_Mutation_p.A427T|ITIH4_uc011bem.1_Missense_Mutation_p.A563T|ITIH4_uc011ben.1_Missense_Mutation_p.A563T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	563					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				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)		GCATCGGATGCGGAGACACTG	0.532											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	52854794	C	T	52854794	3	4	265	1	0	0	0	0	1	0	0	0	7906	768	27	1	1153	1	ITIH4	3	52854794	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2925779	52854794	145167636	165	131454											
IL17RD	54756	broad.mit.edu	37	chr3	57132299	57132299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaataatcaaagtagaCggcgataaacttgctgagcg	12	7	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:57132299C>T	uc003dil.2	-	12	1521	c.1432G>A	c.(1432-1434)GTC>ATC	p.V478I	IL17RD_uc003dik.2_Missense_Mutation_p.V454I|IL17RD_uc010hna.2_Missense_Mutation_p.V334I|IL17RD_uc011bex.1_Missense_Mutation_p.V334I	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	478	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TCAAAGTAGACGGCGATAAAC	0.557													T	57132299	C	T	57132299	3	4	265	1	0	0	0	0	1	0	0	0	7642	536	19	1	795	1	IL17RD	3	57132299	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4277505	57132299	140890131	166	131455											
PXK	54899	broad.mit.edu	37	chr3	58351616	58351616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggaatatattattcgaGtgcaaagaggaatttctgtg	10	3	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:58351616G>A	uc003djz.1	+	2	217	c.118G>A	c.(118-120)GTG>ATG	p.V40M	PXK_uc003djx.1_Missense_Mutation_p.V40M|PXK_uc003djy.1_Intron|PXK_uc003dka.1_Missense_Mutation_p.V40M|PXK_uc003dkb.1_Intron|PXK_uc003dkc.1_Intron|PXK_uc011bfe.1_Intron|PXK_uc010hnj.1_Intron|PXK_uc003dkd.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	40	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)		TATTATTCGAGTGCAAAGAGG	0.303													A	58351616	G	A	58351616	3	1	265	1	0	0	0	0	1	0	0	0	12849	1029	36	4	124	4	PXK	3	58351616	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1219317	58351616	139670814	167	131456											
PXK	54899	broad.mit.edu	37	chr3	58376325	58376325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagattgccttgcaacaGgtttccatgttcttccgatc	9	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:58376325G>A	uc003djz.1	+	5	504	c.405G>A	c.(403-405)CAG>CAA	p.Q135Q	PXK_uc003djx.1_Silent_p.Q135Q|PXK_uc003djy.1_Silent_p.Q118Q|PXK_uc003dka.1_Silent_p.Q135Q|PXK_uc003dkb.1_Silent_p.Q52Q|PXK_uc003dkc.1_Silent_p.Q118Q|PXK_uc011bfe.1_Silent_p.Q102Q|PXK_uc010hnj.1_Silent_p.Q102Q|PXK_uc003dkd.1_5'UTR|PXK_uc010hnk.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	135	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|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)		CCTTGCAACAGGTTTCCATGT	0.403													A	58376325	G	A	58376325	2	1	265	1	0	0	0	0	0	0	0	1	12849	991	35	4		4	PXK	3	58376325	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	24709	58376325	139646105	168	131457											
ADAMTS9	56999	broad.mit.edu	37	chr3	64580100	64580100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatgcctccaccacacAgcttagtgcactggaagaag	8	12	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:64580100A>G	uc003dmg.2	-	28	4222	c.4190T>C	c.(4189-4191)CTG>CCG	p.L1397P	ADAMTS9_uc011bfo.1_Missense_Mutation_p.L1369P|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L1226P|ADAMTS9_uc011bfp.1_Missense_Mutation_p.L308P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1397	TSP type-1 10.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		TCCACCACACAGCTTAGTGCA	0.443													G	64580100	A	G	64580100	3	3	265	1	0	0	0	0	1	0	0	0	273	188	7	3	1665	3	ADAMTS9	3	64580100	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	6203775	64580100	133442330	169	131458											
LRIG1	26018	broad.mit.edu	37	chr3	66433766	66433766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggctttgcattggagggCcactgtttctcccacagata	11	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:66433766C>T	uc003dmx.2	-	15	2145	c.2131G>A	c.(2131-2133)GCC>ACC	p.A711T	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A331T|LRIG1_uc003dmw.2_Missense_Mutation_p.A377T|LRIG1_uc010hnz.2_Missense_Mutation_p.A427T|LRIG1_uc010hoa.2_Missense_Mutation_p.A688T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	711	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATTGGAGGGCCACTGTTTCT	0.597													T	66433766	C	T	66433766	3	4	265	1	0	0	0	0	1	0	0	0	8944	739	26	2	1170	2	LRIG1	3	66433766	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1853666	66433766	131588664	170	131459											
ROBO2	6092	broad.mit.edu	37	chr3	77617584	77617584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggttcaggtcacatggaCggtaagctttcaaaggcaat	11	9	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:77617584C>T	uc003dpy.3	+	13	2613	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M	ROBO2_uc003dpz.2_Missense_Mutation_p.T661M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T661M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	657	Fibronectin type-III 2.|Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		GTCACATGGACGGTAAGCTTT	0.438													T	77617584	C	T	77617584	3	4	265	1	0	0	0	0	1	0	0	0	13514	550	19	1	2022	1	ROBO2	3	77617584	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	11183818	77617584	120404846	171	131460											
CRYBG3	131544	broad.mit.edu	37	chr3	97596423	97596423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttatcccttctccagTcagtgtcagaacgtttaaag	7	10	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:97596423T>C	uc003drx.2	+	1	605	c.541T>C	c.(541-543)TCA>CCA	p.S181P		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						CCTTCTCCAGTCAGTGTCAGA	0.458													C	97596423	T	C	97596423	3	2	265	1	0	0	0	0	1	0	0	0	3913	1667	58	3	543	3	CRYBG3	3	97596423	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	19978839	97596423	100426007	172	131461											
MYH15	22989	broad.mit.edu	37	chr3	108220694	108220694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggattttgtcctcctttatGctcagactctgcagagagaa	9	9	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:108220694G>A	uc003dxa.1	-	4	321	c.264C>T	c.(262-264)AGC>AGT	p.S88S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	88	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CCTCCTTTATGCTCAGACTCT	0.393													A	108220694	G	A	108220694	2	1	265	1	0	0	0	0	0	0	0	1	10034	1310	46	2		2	MYH15	3	108220694	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	10624271	108220694	89801736	173	131462											
ABHD10	55347	broad.mit.edu	37	chr3	111700631	111700631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtgtactttgtttagCttgtagacaaaagacgtcac	8	6	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:111700631C>A	uc003dyk.3	+	2	224	c.143C>A	c.(142-144)GCT>GAT	p.A48D	ABHD10_uc011bhq.1_Intron	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	48						mitochondrion	serine-type peptidase activity				0						CTTTGTTTAGCTTGTAGACAA	0.338													A	111700631	C	A	111700631	3	1	265	1	0	0	0	0	1	0	0	0	74	811	28	5	149	5	ABHD10	3	111700631	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3479937	111700631	86321799	174	131463											
CCDC80	151887	broad.mit.edu	37	chr3	112357944	112357944	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcccttctgcctgatcttcTcgatcctacggatggggcct	10	14	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:112357944T>A	uc003dzf.2	-	2	1027	c.809A>T	c.(808-810)GAG>GTG	p.E270V	CCDC80_uc011bhv.1_Missense_Mutation_p.E270V|CCDC80_uc003dzg.2_Missense_Mutation_p.E270V|CCDC80_uc003dzh.1_Missense_Mutation_p.E270V	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	270										ovary(2)	2						CCTGATCTTCTCGATCCTACG	0.587													A	112357944	T	A	112357944	3	1	265	1	0	0	0	0	1	0	0	0	2854	1551	54	5	2071	5	CCDC80	3	112357944	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	657313	112357944	85664486	175	131464											
SIDT1	54847	broad.mit.edu	37	chr3	113320472	113320472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcatcccattgctgcCagcacacccgaagggagcaa	9	15	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:113320472C>T	uc003eak.2	+	11	1734	c.1083C>T	c.(1081-1083)GCC>GCT	p.A361A	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.A361A|SIDT1_uc011big.1_Silent_p.A114A|SIDT1_uc011bih.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	361	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CCATTGCTGCCAGCACACCCG	0.413													T	113320472	C	T	113320472	2	4	265	1	0	0	0	0	0	0	0	1	14302	581	21	4		4	SIDT1	3	113320472	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	962528	113320472	84701958	176	131465											
SIDT1	54847	broad.mit.edu	37	chr3	113329946	113329946	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgccagcgcctactctgcCtatgcctcctttgctgtggt	9	14	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:113329946C>A	uc003eak.2	+	18	2463	c.1812C>A	c.(1810-1812)GCC>GCA	p.A604A	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.A604A|SIDT1_uc011big.1_Silent_p.A357A|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Silent_p.A57A	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	604	Helical; (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CCTACTCTGCCTATGCCTCCT	0.577													A	113329946	C	A	113329946	2	1	265	1	0	0	0	0	0	0	0	1	14302	668	24	5		5	SIDT1	3	113329946	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	9474	113329946	84692484	177	131466											
KIAA2018	205717	broad.mit.edu	37	chr3	113375167	113375167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaagataatctcttttgacGgtcaattggtggggggccag	14	6	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:113375167G>T	uc003eam.2	-	7	5773	c.5362C>A	c.(5362-5364)CGT>AGT	p.R1788S	KIAA2018_uc003eal.2_Missense_Mutation_p.R1732S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1788					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						CTCTTTTGACGGTCAATTGGT	0.428													T	113375167	G	T	113375167	3	4	265	1	0	0	0	0	1	0	0	0	8268	1116	39	5	1379	5	KIAA2018	3	113375167	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	45221	113375167	84647263	178	131467											
GOLGB1	2804	broad.mit.edu	37	chr3	121413503	121413503	+	Frame_Shift_Del	DEL	T	T	-													tttcagattccaatagctcaTtttttatttgggcatctgta							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:121413502_121413502AT>A	uc010hrc.3	-	12	5994	c.5868_5868AT>T	c.(5866-5868)aatfs	p.N1956fs	GOLGB1_uc003eei.4_Frame_Shift_Del_p.N1951fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.N1917fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.N1876fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.N1837fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.N1915fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1951					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)		CCAATAGCTCATTTTTTATTT	0.358													-	121413503	T	-	121413503	7	5	265	1	0	1	0	1	0	0	0	0	6565	1493	52	0	3967	0	GOLGB1	3	121413503	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	8038336	121413503	76608927	179	131468											
EAF2	55840	broad.mit.edu	37	chr3	121573659	121573659	+	Frame_Shift_Del	DEL	A	A	-													ctcagcagcaacatcactgtAaaaaaaacaaggtatgtggt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:121573658_121573658TA>T	uc003een.3	+	2	425	c.326_326TA>T	c.(325-327)gtafs	p.V109fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	109					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)		AACATCACTGTAAAAAAAACA	0.249													-	121573659	A	-	121573659	7	5	265	1	0	1	0	1	0	0	0	0	4876	349	13	0	337	0	EAF2	3	121573659	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	160156	121573659	76448771	180	131469											
PDIA5	10954	broad.mit.edu	37	chr3	122808030	122808030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtggtcctgccatcaTggctgtcctctgcaaaggtc	11	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:122808030T>C	uc003egc.1	+	2	114	c.58T>C	c.(58-60)TGG>CGG	p.W20R	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	20					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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		CCTGCCATCATGGCTGTCCTC	0.532													C	122808030	T	C	122808030	3	2	265	1	0	0	0	0	1	0	0	0	11671	1464	51	3	64	3	PDIA5	3	122808030	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1234371	122808030	75214400	181	131470											
ADCY5	111	broad.mit.edu	37	chr3	123022987	123022987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctgttcatcttggacCgcacgatcttcctggagagg	14	10	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:123022987C>T	uc003egh.1	-	13	2486	c.2486G>A	c.(2485-2487)CGG>CAG	p.R829Q	ADCY5_uc003egg.1_Missense_Mutation_p.R462Q|ADCY5_uc003egi.1_Missense_Mutation_p.R388Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	829					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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CATCTTGGACCGCACGATCTT	0.408													T	123022987	C	T	123022987	3	4	265	1	0	0	0	0	1	0	0	0	297	652	23	1	1335	1	ADCY5	3	123022987	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	214957	123022987	74999443	182	131471											
MYLK	4638	broad.mit.edu	37	chr3	123383021	123383021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcagtgtgtagcagcCgcagtgctcctggcgcgcgg	15	14	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:123383021C>T	uc003ego.2	-	23	4198	c.3916G>A	c.(3916-3918)GGC>AGC	p.G1306S	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.G106S|MYLK_uc011bjw.1_Missense_Mutation_p.G1306S|MYLK_uc003egp.2_Missense_Mutation_p.G1237S|MYLK_uc003egq.2_Missense_Mutation_p.G1306S|MYLK_uc003egr.2_Missense_Mutation_p.G1237S|MYLK_uc003egs.2_Missense_Mutation_p.G1130S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1306	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGTAGCAGCCGCAGTGCTCC	0.622													T	123383021	C	T	123383021	3	4	265	1	0	0	0	0	1	0	0	0	10056	652	23	1	1876	1	MYLK	3	123383021	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	360034	123383021	74639409	183	131472											
KALRN	8997	broad.mit.edu	37	chr3	124103833	124103833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgcgcagggtggagcagCggaagcttctcctggacatg	16	10	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:124103833C>T	uc003ehg.2	+	11	2033	c.1906C>T	c.(1906-1908)CGG>TGG	p.R636W	KALRN_uc010hrv.1_Missense_Mutation_p.R636W|KALRN_uc003ehf.1_Missense_Mutation_p.R636W|KALRN_uc011bjy.1_Missense_Mutation_p.R636W|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	636	Spectrin 3.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGTGGAGCAGCGGAAGCTTCT	0.587													T	124103833	C	T	124103833	3	4	265	1	0	0	0	0	1	0	0	0	7975	759	27	1	1948	1	KALRN	3	124103833	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	720812	124103833	73918597	184	131473											
MCM2	4171	broad.mit.edu	37	chr3	127339709	127339709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaagttcagcgtcatgCgcagcatgcgcaaggtgggt	14	10	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:127339709C>T	uc003ejp.2	+	14	2491	c.2434C>T	c.(2434-2436)CGC>TGC	p.R812C	MCM2_uc011bkm.1_Missense_Mutation_p.R682C|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R765C	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	812					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(1)	4						CAGCGTCATGCGCAGCATGCG	0.597													T	127339709	C	T	127339709	3	4	265	1	0	0	0	0	1	0	0	0	9386	768	27	1	2488	1	MCM2	3	127339709	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3235876	127339709	70682721	185	131474											
KBTBD12	166348	broad.mit.edu	37	chr3	127642066	127642066	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggctgcatttagcccTtatttcaaagctatgttcac	7	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:127642066T>A	uc010hsr.2	+	1	165	c.162T>A	c.(160-162)CCT>CCA	p.P54P	KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_5'Flank|KBTBD12_uc003ejz.2_Silent_p.P54P	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	kelch domain containing 6	54	BTB.									ovary(1)	1						CATTTAGCCCTTATTTCAAAG	0.393													A	127642066	T	A	127642066	2	1	265	1	0	0	0	0	0	0	0	1	7991	1596	56	5		5	KBTBD12	3	127642066	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	302357	127642066	70380364	186	131475											
COPG	22820	broad.mit.edu	37	chr3	128991652	128991652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctctcttccccacagtgGcctgcacattcagctgcatg	8	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:128991652G>A	uc003els.2	+	21	2261	c.2161G>A	c.(2161-2163)GCC>ACC	p.A721T	COPG_uc010htb.2_Missense_Mutation_p.A627T	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	721	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						CCCCACAGTGGCCTGCACATT	0.567													A	128991652	G	A	128991652	3	1	265	1	0	0	0	0	1	0	0	0	3731	1203	42	2	2243	2	COPG	3	128991652	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1349586	128991652	69030778	187	131476											
DNAJC13	23317	broad.mit.edu	37	chr3	132193882	132193882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcatttaatattgacagaGaacttggaagtgcaaatgtg	11	4	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:132193882G>A	uc003eor.2	+	22	2463	c.2398G>A	c.(2398-2400)GAA>AAA	p.E800K		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	800							heat shock protein binding			ovary(1)|breast(1)	2						TATTGACAGAGAACTTGGAAG	0.338													A	132193882	G	A	132193882	3	1	265	1	0	0	0	0	1	0	0	0	4632	943	33	4	2480	4	DNAJC13	3	132193882	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3202230	132193882	65828548	188	131477											
NPHP3	27031	broad.mit.edu	37	chr3	132298379	132298379	+	Frame_Shift_Del	DEL	T	T	-													tcttcccaaaacaattgcaaTtttgcacttgggattcccag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:132298378_132298378AT>A	uc003eov.4	-	13	2026	c.1646_1646AT>T	c.(1645-1647)attfs	p.I549fs	NPHP3_uc011blr.1_Frame_Shift_Del_p.I160fs	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|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	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						AACAATTGCAATTTTGCACTT	0.383													-	132298379	T	-	132298379	7	5	265	1	0	1	0	1	0	0	0	0	10580	1493	52	0		0	NPHP3	3	132298379	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	104497	132298379	65724051	189	131478											
DZIP1L	199221	broad.mit.edu	37	chr3	137822381	137822381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatcatcttgcgacgccGgcggctctcctcccgcacac	10	18	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:137822381G>A	uc003erq.2	-	2	796	c.433C>T	c.(433-435)CGG>TGG	p.R145W	DZIP1L_uc003err.1_Missense_Mutation_p.R145W	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	145						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TTGCGACGCCGGCGGCTCTCC	0.662													A	137822381	G	A	137822381	3	1	265	1	0	0	0	0	1	0	0	0	4864	1115	39	1	1939	1	DZIP1L	3	137822381	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5524002	137822381	60200049	190	131479											
DBR1	51163	broad.mit.edu	37	chr3	137886126	137886126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccaatcatgagacaagaAtatatctataggctgcttca	8	8	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:137886126A>C	uc003erv.2	-	5	647	c.511T>G	c.(511-513)TTC>GTC	p.F171V	DBR1_uc003eru.2_Missense_Mutation_p.F120V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	171						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TGAGACAAGAATATATCTATA	0.333													C	137886126	A	C	137886126	3	2	265	1	0	0	0	0	1	0	0	0	4257	101	4	5	1139	5	DBR1	3	137886126	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	63745	137886126	60136304	191	131480											
MRAS	22808	broad.mit.edu	37	chr3	138116242	138116242	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggggatggcttcctcatCgtctactccgtcactgacaa	10	13	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:138116242C>T	uc003esh.3	+	3	831	c.270C>T	c.(268-270)ATC>ATT	p.I90I	MRAS_uc011bmi.1_Silent_p.I14I|MRAS_uc003esi.3_Silent_p.I90I|MRAS_uc011bmj.1_Silent_p.I14I	NM_012219	NP_036351	O14807	RASM_HUMAN	muscle RAS oncogene homolog precursor	90					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.I90M(1)		lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCTTCCTCATCGTCTACTCCG	0.582													T	138116242	C	T	138116242	2	4	265	1	0	0	0	0	0	0	0	1	9755	874	31	1		1	MRAS	3	138116242	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	230116	138116242	59906188	192	131481											
XRN1	54464	broad.mit.edu	37	chr3	142142403	142142403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatgctatataatttaccGttgtgtttttttgccaccaa	5	7	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:142142403G>A	uc003eus.2	-	6	776	c.709C>T	c.(709-711)CGG>TGG	p.R237W	XRN1_uc003eut.2_Missense_Mutation_p.R237W|XRN1_uc003euu.2_Missense_Mutation_p.R237W|XRN1_uc003euv.1_Missense_Mutation_p.R98W|XRN1_uc003euw.2_Missense_Mutation_p.R237W|XRN1_uc011bnh.1_Missense_Mutation_p.R27W	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	237					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			ovary(3)	3						ATAATTTACCGTTGTGTTTTT	0.229													A	142142403	G	A	142142403	3	1	265	1	0	0	0	0	1	0	0	0	17456	1159	40	1	4559	1	XRN1	3	142142403	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4026161	142142403	55880027	193	131482											
PAQR9	344838	broad.mit.edu	37	chr3	142681449	142681449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcatgacgaagacgaaggTgcgcagcgcgaacgggtagg	18	9	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:142681449T>C	uc003evg.2	-	1	730	c.730A>G	c.(730-732)ACC>GCC	p.T244A	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	244	Helical; (Potential).					integral to membrane	receptor activity				0						AAGACGAAGGTGCGCAGCGCG	0.637													C	142681449	T	C	142681449	3	2	265	1	0	0	0	0	1	0	0	0	11442	1696	59	3	407	3	PAQR9	3	142681449	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	539046	142681449	55340981	194	131483											
SIAH2	6478	broad.mit.edu	37	chr3	150480304	150480304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcccctgcacgtcggGcagcagctcaacttctggcg	14	15	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:150480304G>A	uc003eyi.2	-	1	960	c.333C>T	c.(331-333)TGC>TGT	p.C111C		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	111	RING-type.				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			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCACGTCGGGCAGCAGCTCA	0.612													A	150480304	G	A	150480304	2	1	265	1	0	0	0	0	0	0	0	1	14300	1195	42	2		2	SIAH2	3	150480304	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7798855	150480304	47542126	195	131484											
AADACL2	344752	broad.mit.edu	37	chr3	151463416	151463416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatcccacccgaatctGcattgcgggagacagttctg	12	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:151463416G>A	uc003ezc.2	+	4	671	c.551G>A	c.(550-552)TGC>TAC	p.C184Y	AADACL2_uc010hvn.2_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	184						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCCGAATCTGCATTGCGGGA	0.368													A	151463416	G	A	151463416	3	1	265	1	0	0	0	0	1	0	0	0	11	1319	46	2	565	2	AADACL2	3	151463416	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	983112	151463416	46559014	196	131485											
GPR149	344758	broad.mit.edu	37	chr3	154145305	154145305	+	Splice_Site	DEL	T	T	-													ctgcagtgttgaggacttacTttttttcccatcggacgcca							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:154145304_154145304CT>C	uc003faa.3	-	2	1274	c.1174_splice	c.e2+1	p.I392_splice		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	392						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)			TGAGGACTTACTTTTTTTCCC	0.488													-	154145305	T	-	154145305	8	5	265	1	0	1	0	1	0	0	1	0	6654	1623	56	0	1033	0	GPR149	3	154145305	Splice_Site	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	2681889	154145305	43877125	197	131486											
GMPS	8833	broad.mit.edu	37	chr3	155652794	155652794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgctcagtactttacGccaagctgattttgaggccc	12	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:155652794G>A	uc003faq.2	+	14	2101	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	GMPS_uc011bom.1_Missense_Mutation_p.R490H	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	589					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			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								A	155652794	G	A	155652794	3	1	265	1	0	0	0	0	1	0	0	0	6498	1087	38	1	1820	1	GMPS	3	155652794	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1507489	155652794	42369636	198	131487											
TIPARP	25976	broad.mit.edu	37	chr3	156413783	156413783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaggagacccctcttcCgctcctgttttatactgctt	6	12	1	1	rs17854621		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:156413783C>T	uc003fav.2	+	4	1464	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	TIPARP_uc003faw.2_Missense_Mutation_p.R406C	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	406	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCCCTCTTCCGCTCCTGTTT	0.388													T	156413783	C	T	156413783	3	4	265	1	0	0	0	0	1	0	0	0	15921	652	23	1	1226	1	TIPARP	3	156413783	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	760989	156413783	41608647	199	131488											
LRRC31	79782	broad.mit.edu	37	chr3	169579523	169579523	+	Frame_Shift_Del	DEL	T	T	-													ctagacacttgttgacagccTttttgcccagcttctgcagg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:169579523delT	uc003fgc.1	-	2	331	c.254delA	c.(253-255)AAGfs	p.K85fs	LRRC31_uc010hwp.1_Frame_Shift_Del_p.K85fs	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	85										ovary(2)|skin(1)	3	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)			GTTGACAGCCTTTTTGCCCAG	0.408													-	169579523	T	-	169579523	7	5	265	1	0	1	0	1	0	0	0	0	8986	1609	56	0	1436	0	LRRC31	3	169579523	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	13165740	169579523	28442907	200	131489											
SLC2A2	6514	broad.mit.edu	37	chr3	170725022	170725022	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttggagcaatttcaccgAtatacataggaaccaggcct	10	10	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:170725022A>G	uc003fhe.1	-	5	836	c.527T>C	c.(526-528)ATC>ACC	p.I176T	SLC2A2_uc003fhf.1_Missense_Mutation_p.I3T|SLC2A2_uc011bpu.1_Missense_Mutation_p.I49T	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	176	Helical; Name=4; (Potential).				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			ovary(1)|central_nervous_system(1)	2	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)			AATTTCACCGATATACATAGG	0.423													G	170725022	A	G	170725022	3	3	265	1	0	0	0	0	1	0	0	0	14544	333	12	3	1075	3	SLC2A2	3	170725022	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1145499	170725022	27297408	201	131490											
ATP11B	23200	broad.mit.edu	37	chr3	182597414	182597414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtattatgctgtcgtAtggctccactgcagaaagca	10	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:182597414A>G	uc003flb.2	+	20	2640	c.2383A>G	c.(2383-2385)ATG>GTG	p.M795V	ATP11B_uc003flc.2_Missense_Mutation_p.M379V|ATP11B_uc011bqm.1_Missense_Mutation_p.M99V|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	795	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3	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)			ATGCTGTCGTATGGCTCCACT	0.353													G	182597414	A	G	182597414	3	3	265	1	0	0	0	0	1	0	0	0	1120	449	16	3	2461	3	ATP11B	3	182597414	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	11872392	182597414	15425016	202	131491											
HTR3D	200909	broad.mit.edu	37	chr3	183756689	183756689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcagccacgcgatggacGccctgctcttccgcctctac	9	17	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:183756689G>A	uc011bqv.1	+	8	1291	c.1291G>A	c.(1291-1293)GCC>ACC	p.A431T	HTR3D_uc003fmj.2_Missense_Mutation_p.A256T|HTR3D_uc011bqu.1_Missense_Mutation_p.A381T|HTR3D_uc010hxp.2_Missense_Mutation_p.A210T	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	431	Cytoplasmic (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCGATGGACGCCCTGCTCTT	0.607													A	183756689	G	A	183756689	3	1	265	1	0	0	0	0	1	0	0	0	7447	1087	38	1	1491	1	HTR3D	3	183756689	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1159275	183756689	14265741	203	131492											
FAM131A	131408	broad.mit.edu	37	chr3	184062665	184062665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctgcccaccactaacGggcagctgggaacggcagcg	12	16	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:184062665G>A	uc003fog.2	+	3	2279	c.915G>A	c.(913-915)ACG>ACA	p.T305T	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.T251T|FAM131A_uc003foe.2_Silent_p.T251T	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	305						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCACTAACGGGCAGCTGGG	0.627													A	184062665	G	A	184062665	2	1	265	1	0	0	0	0	0	0	0	1	5439	1103	39	1		1	FAM131A	3	184062665	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	305976	184062665	13959765	204	131493											
KNG1	3827	broad.mit.edu	37	chr3	186456939	186456939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggccagggaaaccacaTgttccaaggaaagtaatgaa	11	8	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:186456939T>C	uc011bsa.1	+	8	1194	c.982T>C	c.(982-984)TGT>CGT	p.C328R	KNG1_uc003fqr.2_Missense_Mutation_p.C328R	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	328	Cystatin 3.				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			skin(1)	1	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)	GGAAACCACATGTTCCAAGGA	0.383													C	186456939	T	C	186456939	3	2	265	1	0	0	0	0	1	0	0	0	8427	1464	51	3	1012	3	KNG1	3	186456939	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2394274	186456939	11565491	205	131494											
LRRC15	131578	broad.mit.edu	37	chr3	194080702	194080702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgcggaagacgttcccGtccaggtcctgcagtgcgtt	12	12	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194080702G>A	uc003ftu.2	-	2	1157	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	LRRC15_uc003ftt.2_Silent_p.D363D	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	357	LRR 13.|Extracellular (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGACGTTCCCGTCCAGGTCCT	0.587													A	194080702	G	A	194080702	2	1	265	1	0	0	0	0	0	0	0	1	8970	1136	40	1		1	LRRC15	3	194080702	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7623763	194080702	3941728	206	131495											
GP5	2814	broad.mit.edu	37	chr3	194118269	194118269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtggtttctcgaaagcGtcaaagaactgaggtttggg	14	6	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194118269G>A	uc003ftv.1	-	2	774	c.743C>T	c.(742-744)ACG>ATG	p.T248M		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	248	Extracellular (Potential).|LRR 8.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	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)		TCTCGAAAGCGTCAAAGAACT	0.572													A	194118269	G	A	194118269	3	1	265	1	0	0	0	0	1	0	0	0	6583	1145	40	1	943	1	GP5	3	194118269	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	37567	194118269	3904161	207	131496											
LSG1	55341	broad.mit.edu	37	chr3	194366916	194366916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatagtccttcaggatgtAgcgcgcagatcgaggctggt	14	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194366916A>G	uc003fui.2	-	12	1915	c.1600T>C	c.(1600-1602)TAC>CAC	p.Y534H		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	534					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	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)		TTCAGGATGTAGCGCGCAGAT	0.453													G	194366916	A	G	194366916	3	3	265	1	0	0	0	0	1	0	0	0	9049	420	15	3	388	3	LSG1	3	194366916	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	248647	194366916	3655514	208	131497											
FAM43A	131583	broad.mit.edu	37	chr3	194407806	194407806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccaccatccaggcgcGcggcgacggctgcaccgacc	12	19	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194407806G>A	uc003fuj.2	+	1	1185	c.251G>A	c.(250-252)CGC>CAC	p.R84H		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	84										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		ATCCAGGCGCGCGGCGACGGC	0.632													A	194407806	G	A	194407806	3	1	265	1	0	0	0	0	1	0	0	0	5562	1087	38	1	253	1	FAM43A	3	194407806	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	40890	194407806	3614624	209	131498											
FGFRL1	53834	broad.mit.edu	37	chr4	1018193	1018193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccagtgcaaggtgcgCagcgacgtgaagccggtgat	14	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:1018193C>T	uc003gce.2	+	6	974	c.813C>T	c.(811-813)CGC>CGT	p.R271R	FGFRL1_uc003gcf.2_Silent_p.R271R|FGFRL1_uc003gcg.2_Silent_p.R271R|FGFRL1_uc010ibo.2_Silent_p.R271R	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	271	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAAGGTGCGCAGCGACGTGA	0.662													T	1018193	C	T	1018193	2	4	265	1	0	0	0	0	0	0	0	1	5869	697	25	2		2	FGFRL1	4	1018193	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		1018193	190136083	210	131499											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-													ctcacgtgtggtatcatggaCccccccgtcactgatgacat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:2661593delC	uc010icl.2	+	8	1035	c.684delC	c.(682-684)GACfs	p.D228fs	FAM193A_uc010ick.2_Frame_Shift_Del_p.D428fs|FAM193A_uc003gfd.2_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.1_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.1_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	228										ovary(3)	3						GTATCATGGACCCCCCCGTCA	0.522													-	2661593	C	-	2661593	7	5	265	1	0	1	0	1	0	0	0	0	5524	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	1643400	2661593	188492683	211	131500											
FAM193A	8603	broad.mit.edu	37	chr4	2698298	2698298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcacgcgtgcagcgaagcGagcaaggcataagcaaagga	14	10	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:2698298G>A	uc010icl.2	+	16	2963	c.2612G>A	c.(2611-2613)CGA>CAA	p.R871Q	FAM193A_uc010ick.2_Missense_Mutation_p.R1071Q|FAM193A_uc003gfd.2_Missense_Mutation_p.R871Q|FAM193A_uc011bvm.1_Missense_Mutation_p.R893Q|FAM193A_uc011bvn.1_Missense_Mutation_p.R871Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.R725Q	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	871										ovary(3)	3						GCAGCGAAGCGAGCAAGGCAT	0.552													A	2698298	G	A	2698298	3	1	265	1	0	0	0	0	1	0	0	0	5524	1058	37	1	2666	1	FAM193A	4	2698298	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	36705	2698298	188455978	212	131501											
HTT	3064	broad.mit.edu	37	chr4	3189409	3189409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgttcaactgtggatatCgggaattctggccattttga	10	8	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:3189409C>T	uc011bvq.1	+	40	5172	c.5027C>T	c.(5026-5028)TCG>TTG	p.S1676L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1674					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTGGATATCGGGAATTCTG	0.403													T	3189409	C	T	3189409	3	4	265	1	0	0	0	0	1	0	0	0	7457	893	31	1	5175	1	HTT	4	3189409	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	491111	3189409	187964867	213	131502											
HGFAC	3083	broad.mit.edu	37	chr4	3449696	3449696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagcccatctgcctgcccGagcccggcagcaccttcccc	9	21	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:3449696G>A	uc003ghc.2	+	12	1573	c.1570G>A	c.(1570-1572)GAG>AAG	p.E524K	HGFAC_uc010icw.2_Missense_Mutation_p.E531K	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	524	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGCCTGCCCGAGCCCGGCAG	0.662													A	3449696	G	A	3449696	3	1	265	1	0	0	0	0	1	0	0	0	7086	1059	37	1	1616	1	HGFAC	4	3449696	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	260287	3449696	187704580	214	131503											
ZNF518B	85460	broad.mit.edu	37	chr4	10445986	10445986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgactttattttagacGttgagctattccacttaatg	6	7	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:10445986G>A	uc003gmn.2	-	3	2454	c.1967C>T	c.(1966-1968)ACG>ATG	p.T656M		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						TATTTTAGACGTTGAGCTATT	0.428													A	10445986	G	A	10445986	3	1	265	1	0	0	0	0	1	0	0	0	17960	1145	40	1	1261	1	ZNF518B	4	10445986	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	6996290	10445986	180708290	215	131504											
BOD1L	259282	broad.mit.edu	37	chr4	13601959	13601959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcataggcccctcaaagtCggcggtgcttatcaagactg	13	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:13601959C>T	uc003gmz.1	-	10	6682	c.6565G>A	c.(6565-6567)GAC>AAC	p.D2189N	BOD1L_uc010idr.1_Missense_Mutation_p.D1526N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2189							DNA binding			ovary(5)|breast(1)	6						CCCTCAAAGTCGGCGGTGCTT	0.532													T	13601959	C	T	13601959	3	4	265	1	0	0	0	0	1	0	0	0	1483	884	31	1	2658	1	BOD1L	4	13601959	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3155973	13601959	177552317	216	131505											
SLIT2	9353	broad.mit.edu	37	chr4	20597371	20597371	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcgacatcgattttgaCgactgccaagacaacaagtg	9	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:20597371C>T	uc003gpr.1	+	31	3438	c.3234C>T	c.(3232-3234)GAC>GAT	p.D1078D	SLIT2_uc003gps.1_Silent_p.D1070D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1078	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	p.D1078D(1)		central_nervous_system(4)|skin(4)|ovary(3)	11						TCGATTTTGACGACTGCCAAG	0.468													T	20597371	C	T	20597371	2	4	265	1	0	0	0	0	0	0	0	1	14740	535	19	1		1	SLIT2	4	20597371	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6995412	20597371	170556905	217	131506											
PCDH7	5099	broad.mit.edu	37	chr4	30723127	30723127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctctcgctcagcctggCggccgccaagcagctcctcc	11	20	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:30723127C>T	uc003gsk.1	+	1	1091	c.83C>T	c.(82-84)GCG>GTG	p.A28V	PCDH7_uc011bxw.1_Missense_Mutation_p.A28V|PCDH7_uc011bxx.1_Missense_Mutation_p.A28V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	28					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CTCAGCCTGGCGGCCGCCAAG	0.711													T	30723127	C	T	30723127	3	4	265	1	0	0	0	0	1	0	0	0	11516	768	27	1	85	1	PCDH7	4	30723127	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	10125756	30723127	160431149	218	131507											
TLR6	10333	broad.mit.edu	37	chr4	38830974	38830974	+	Frame_Shift_Del	DEL	T	T	-													tggaacatgaataagacctcTttttgacttgtctactgcaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:38830973_38830973CT>C	uc010ifg.2	-	1	243	c.122_122AG>G	c.(121-123)agafs	p.R41fs	TLR6_uc003gtm.3_Frame_Shift_Del_p.R41fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	41					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|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|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|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	p.R41T(2)		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						AATAAGACCTCTTTTTGACTT	0.388													-	38830974	T	-	38830974	7	5	265	1	0	1	0	1	0	0	0	0	15952	1617	56	0	2273	0	TLR6	4	38830974	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	8107847	38830974	152323302	219	131508											
KCTD8	386617	broad.mit.edu	37	chr4	44449851	44449851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgatgcgcgccacacgCcggaatttggcgtcggcctg	13	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:44449851C>T	uc003gwu.2	-	1	974	c.690G>A	c.(688-690)CGG>CGA	p.R230R		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	230						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GCGCCACACGCCGGAATTTGG	0.657										HNSCC(17;0.042)			T	44449851	C	T	44449851	2	4	265	1	0	0	0	0	0	0	0	1	8115	726	26	2		2	KCTD8	4	44449851	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5618877	44449851	146704425	220	131509											
ATP10D	57205	broad.mit.edu	37	chr4	47525167	47525167	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatggaatctgtcacattgaGacttctggtcttgatggaga	12	6	4	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:47525167G>A	uc003gxk.1	+	4	788	c.624G>A	c.(622-624)GAG>GAA	p.E208E	ATP10D_uc003gxj.3_Silent_p.E208E	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	208	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						GTCACATTGAGACTTCTGGTC	0.448													A	47525167	G	A	47525167	2	1	265	1	0	0	0	0	0	0	0	1	1118	933	33	4		4	ATP10D	4	47525167	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3075316	47525167	143629109	221	131510											
CNGA1	1259	broad.mit.edu	37	chr4	47954605	47954605	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttggatttacctgcaTgctccattttccatccttcg	6	11	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:47954605T>C	uc003gxt.3	-	4	380	c.114A>G	c.(112-114)GCA>GCG	p.A38A	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.A107A|CNGA1_uc003gxv.1_Silent_p.A38A	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	38	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TTTACCTGCATGCTCCATTTT	0.303													C	47954605	T	C	47954605	2	2	265	1	0	0	0	0	0	0	0	1	3596	1451	51	3		3	CNGA1	4	47954605	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	429438	47954605	143199671	222	131511											
KIT	3815	broad.mit.edu	37	chr4	55524194	55524194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaccgcgatgagaggcgctCgcggcgcctgggattttctc	14	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:55524194C>T	uc010igr.2	+	1	100	c.13C>T	c.(13-15)CGC>TGC	p.R5C	KIT_uc010igs.2_Missense_Mutation_p.R5C	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	5					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			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	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)	GAGAGGCGCTCGCGGCGCCTG	0.667		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				T	55524194	C	T	55524194	3	4	265	1	0	0	0	0	1	0	0	0	8329	884	31	1	15	1	KIT	4	55524194	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7569589	55524194	135630082	223	131512											
PPAT	5471	broad.mit.edu	37	chr4	57267591	57267591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatataatatcaagagttTggacattgtgtctggatatt	9	3	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:57267591T>C	uc003hbr.2	-	7	993	c.791A>G	c.(790-792)CAA>CGA	p.Q264R		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	264					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATCAAGAGTTTGGACATTGTG	0.348													C	57267591	T	C	57267591	3	2	265	1	0	0	0	0	1	0	0	0	12302	1812	63	3	782	3	PPAT	4	57267591	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1743397	57267591	133886685	224	131513											
ART3	419	broad.mit.edu	37	chr4	77003516	77003516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctcactgtgttatccatCtacacatgccttggagttga	8	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:77003516C>T	uc003hjo.2	+	3	728	c.609C>T	c.(607-609)ATC>ATT	p.I203I	ART3_uc003hji.2_Silent_p.I203I|ART3_uc003hjj.2_Silent_p.I203I|ART3_uc003hjk.2_Silent_p.I203I|ART3_uc010ija.1_Silent_p.I203I|ART3_uc003hjn.2_Silent_p.I203I|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Silent_p.I173I|ART3_uc010ijc.2_Silent_p.I173I|ART3_uc010ijd.2_Silent_p.I173I	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	203					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTATCCATCTACACATGCC	0.403													T	77003516	C	T	77003516	2	4	265	1	0	0	0	0	0	0	0	1	998	903	32	4		4	ART3	4	77003516	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	19735925	77003516	114150760	225	131514											
SHROOM3	57619	broad.mit.edu	37	chr4	77662485	77662485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgtttcccggagagcagCgtggccgaccggcgccgtct	15	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:77662485C>T	uc011cbx.1	+	5	4112	c.3159C>T	c.(3157-3159)AGC>AGT	p.S1053S	SHROOM3_uc011cbz.1_Silent_p.S877S|SHROOM3_uc003hkf.1_Silent_p.S928S|SHROOM3_uc003hkg.2_Silent_p.S831S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1053					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			skin(2)|ovary(1)	3			Lung(101;0.0903)			CGGAGAGCAGCGTGGCCGACC	0.682													T	77662485	C	T	77662485	2	4	265	1	0	0	0	0	0	0	0	1	14295	767	27	1		1	SHROOM3	4	77662485	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	658969	77662485	113491791	226	131515											
FRAS1	80144	broad.mit.edu	37	chr4	79188036	79188036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacgtgtatatgtgacCggggtgaggtcaggtgtcac	15	9	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:79188036C>T	uc003hlb.2	+	8	1176	c.736C>T	c.(736-738)CGG>TGG	p.R246W	FRAS1_uc003hkw.2_Missense_Mutation_p.R246W|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	246	VWFC 4.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TATATGTGACCGGGGTGAGGT	0.488													T	79188036	C	T	79188036	3	4	265	1	0	0	0	0	1	0	0	0	6042	643	23	1	766	1	FRAS1	4	79188036	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1525551	79188036	111966240	227	131516											
AFF1	4299	broad.mit.edu	37	chr4	88035872	88035872	+	Frame_Shift_Del	DEL	G	G	-													ggttcacggaccagcctgcaGggggaaagggagccagggct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:88035871_88035871AG>A	uc011ccz.2	+	11	2161	c.1886_1886AG>A	c.(1885-1887)cagfs	p.Q629fs	AFF1_uc003hqj.4_Frame_Shift_Del_p.Q622fs|AFF1_uc003hqk.4_Frame_Shift_Del_p.Q622fs|AFF1_uc011cda.2_Frame_Shift_Del_p.Q260fs	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	622						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)		ACCAGCCTGCAGGGGGAAAGG	0.617													-	88035872	G	-	88035872	7	5	265	1	0	1	0	1	0	0	0	0	356	991	35	0	1950	0	AFF1	4	88035872	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	8847836	88035872	103118404	228	131517											
MMRN1	22915	broad.mit.edu	37	chr4	90872776	90872776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagtattcaagctgtagtCggcatccgtgccaaaatggg	13	8	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:90872776C>T	uc003hst.2	+	7	3210	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	MMRN1_uc010iku.2_Missense_Mutation_p.R350W|MMRN1_uc011cds.1_Missense_Mutation_p.R789W	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1047	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGCTGTAGTCGGCATCCGTG	0.398													T	90872776	C	T	90872776	3	4	265	1	0	0	0	0	1	0	0	0	9670	875	31	1	3165	1	MMRN1	4	90872776	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2836904	90872776	100281500	229	131518											
BMPR1B	658	broad.mit.edu	37	chr4	96025646	96025646	+	Frame_Shift_Del	DEL	C	C	-													tggtgagagtacagcccccaCcccccgtccaaaggtcttgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:96025646delC	uc003htm.3	+	4	345	c.71delC	c.(70-72)ACCfs	p.T24fs	BMPR1B_uc010ilb.2_Frame_Shift_Del_p.T24fs|BMPR1B_uc003htn.3_Frame_Shift_Del_p.T24fs	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	24	Extracellular (Potential).				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			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ACAGCCCCCACCCCCCGTCCA	0.433													-	96025646	C	-	96025646	7	5	265	1	0	1	0	1	0	0	0	0	1470	507	18	0	73	0	BMPR1B	4	96025646	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	5152870	96025646	95128630	230	131519											
MTTP	4547	broad.mit.edu	37	chr4	100543904	100543904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaagaaaagaaagcGtattagcaggatgtgaattc	10	5	1	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:100543904G>A	uc003hvc.3	+	19	2840	c.2584G>A	c.(2584-2586)GTA>ATA	p.V862I	MTTP_uc011cej.1_Missense_Mutation_p.V889I	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	862					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAAAGAAAGCGTATTAGCAGG	0.443													A	100543904	G	A	100543904	3	1	265	1	0	0	0	0	1	0	0	0	9964	1145	40	1	2654	1	MTTP	4	100543904	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4518258	100543904	90610372	231	131520											
MANBA	4126	broad.mit.edu	37	chr4	103635670	103635670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaacatctttccagattcCctgggtaggaaaggaaggcc	10	10	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:103635670C>T	uc003hwg.2	-	5	698	c.598G>A	c.(598-600)GGA>AGA	p.G200R	MANBA_uc011ces.1_Missense_Mutation_p.G143R	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	200					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TTCCAGATTCCCTGGGTAGGA	0.363													T	103635670	C	T	103635670	3	4	265	1	0	0	0	0	1	0	0	0	9219	632	22	4	2093	4	MANBA	4	103635670	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3091766	103635670	87518606	232	131521											
LEF1	51176	broad.mit.edu	37	chr4	108999528	108999528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctttctctgttcatGctgaggcttcctaaaaggtg	9	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:108999528G>A	uc003hyt.1	-	8	1511	c.856C>T	c.(856-858)CAT>TAT	p.H286Y	LEF1_uc011cfj.1_Missense_Mutation_p.H143Y|LEF1_uc011cfk.1_Missense_Mutation_p.H190Y|LEF1_uc003hyu.1_Missense_Mutation_p.H258Y|LEF1_uc003hyv.1_Missense_Mutation_p.H258Y|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	286					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 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			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTCTGTTCATGCTGAGGCTTC	0.478													A	108999528	G	A	108999528	3	1	265	1	0	0	0	0	1	0	0	0	8714	1319	46	2	443	2	LEF1	4	108999528	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5363858	108999528	82154748	233	131522											
ANK2	287	broad.mit.edu	37	chr4	114274959	114274959	+	Frame_Shift_Del	DEL	A	A	-													gtgcagagaaagctgaacttAaaaaaggtagttcagaagag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:114274958_114274958TA>T	uc003ibe.4	+	37	5284	c.5184_5184TA>T	c.(5182-5184)cttfs	p.L1728fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.L1743fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1695					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)		AAGCTGAACTTAAAAAAGGTA	0.413													-	114274959	A	-	114274959	7	5	265	1	0	1	0	1	0	0	0	0	621	363	13	0	5400	0	ANK2	4	114274959	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	5275431	114274959	76879317	234	131523											
PRDM5	11107	broad.mit.edu	37	chr4	121843685	121843685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctttcgcactctgcGggccgtgtagagccccatgc	10	17	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:121843685G>A	uc003idn.2	-	1	329	c.79C>T	c.(79-81)CGC>TGC	p.R27C	PRDM5_uc003ido.2_Missense_Mutation_p.R27C|PRDM5_uc010ine.2_Missense_Mutation_p.R27C|PRDM5_uc010inf.2_Missense_Mutation_p.R27C|PRDM5_uc003idp.1_Missense_Mutation_p.R27C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	27	SET.				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)|pancreas(1)	2						CGCACTCTGCGGGCCGTGTAG	0.652													A	121843685	G	A	121843685	3	1	265	1	0	0	0	0	1	0	0	0	12460	1116	39	1	1877	1	PRDM5	4	121843685	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7568726	121843685	69310591	235	131524											
BBS12	166379	broad.mit.edu	37	chr4	123664721	123664722	+	Frame_Shift_Ins	INS	-	-	A													ttcttgcagagcaatctctgINSaaaaaagaaaaccatgcctg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:123664721_123664722insA	uc003ieu.2	+	2	1867_1868	c.1674_1675insA	c.(1672-1677)CTGAAAfs	p.L558fs		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	558_559					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						AGCAATCTCTGAAAAAAGAAAA	0.426									Bardet-Biedl_syndrome				A	123664722	-	A	123664721	7	5	265	1	0	1	1	0	0	0	0	0	1337	1277	45	0	1676	0	BBS12	4	123664721	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1821036	123664721	67489555	236	131525	677	2									
BBS12	166379	broad.mit.edu	37	chr4	123664722	123664723	+	Frame_Shift_Ins	INS	-	-	A													tcttgcagagcaatctctgaINSaaaaagaaaaccatgcctgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:123664721_123664722G>GA	uc021xrm.1	+	2	2055_2056	c.1674_1675G>GA	c.(1672-1677)ctgaaafs	p.L558fs	BBS12_uc003ieu.3_Frame_Shift_Ins_p.L558fs|BBS12_uc021xrn.1_Frame_Shift_Ins_p.L558fs	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	558					cellular protein metabolic process	cilium	ATP binding	p.E561fs*77(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGCAATCTCTGAAAAAAGAAAA	0.426									Bardet-Biedl syndrome				A	123664723	-	A	123664722	7	5	265	1	0	1	1	0	0	0	0	0	1337	247	9	0	1677	0	BBS12	4	123664722	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	123664722	67489554	237	131526	677	2									
ANKRD50	57182	broad.mit.edu	37	chr4	125592251	125592251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggctaacaactgatgcGtgccctttacttgcaggcac	9	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:125592251G>A	uc003ifg.3	-	3	2447	c.2181C>T	c.(2179-2181)CAC>CAT	p.H727H	ANKRD50_uc011cgo.1_Silent_p.H548H|ANKRD50_uc010inw.2_Silent_p.H727H	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	727	ANK 8.									central_nervous_system(1)	1						CAACTGATGCGTGCCCTTTAC	0.468													A	125592251	G	A	125592251	2	1	265	1	0	0	0	0	0	0	0	1	677	1136	40	1		1	ANKRD50	4	125592251	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1927529	125592251	65562025	238	131527											
PHF17	79960	broad.mit.edu	37	chr4	129773352	129773352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttgtctgtgatgtcTgccagtctcctgatggtgag	13	7	3	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:129773352T>C	uc003igk.2	+	6	905	c.625T>C	c.(625-627)TGC>CGC	p.C209R	PHF17_uc003igj.2_Missense_Mutation_p.C209R|PHF17_uc003igl.2_Missense_Mutation_p.C197R|PHF17_uc011cgy.1_Missense_Mutation_p.C209R|PHF17_uc003igm.2_Missense_Mutation_p.C209R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	209	PHD-type 1.				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						CTGTGATGTCTGCCAGTCTCC	0.493													C	129773352	T	C	129773352	3	2	265	1	0	0	0	0	1	0	0	0	11828	1580	55	3	643	3	PHF17	4	129773352	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	4181101	129773352	61380924	239	131528											
TBC1D9	23158	broad.mit.edu	37	chr4	141590817	141590817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaactcctcgggagaccGccgccgatacatggtcatca	11	13	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:141590817G>A	uc010ioj.2	-	8	1680	c.1408C>T	c.(1408-1410)CGG>TGG	p.R470W		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	470						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCGGGAGACCGCCGCCGATAC	0.488													A	141590817	G	A	141590817	3	1	265	1	0	0	0	0	1	0	0	0	15624	1086	38	1	2448	1	TBC1D9	4	141590817	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	11817465	141590817	49563459	240	131529											
USP38	84640	broad.mit.edu	37	chr4	144106875	144106875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgggcctccttcatcAgggctaccactctctggaca	10	14	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:144106875A>G	uc003ijb.2	+	1	806	c.272A>G	c.(271-273)CAG>CGG	p.Q91R	USP38_uc003ija.3_Missense_Mutation_p.Q91R|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	91					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					CTCCTTCATCAGGGCTACCAC	0.567													G	144106875	A	G	144106875	3	3	265	1	0	0	0	0	1	0	0	0	17066	188	7	3	274	3	USP38	4	144106875	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2516058	144106875	47047401	241	131530											
MAB21L2	10586	broad.mit.edu	37	chr4	151505070	151505070	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgggacgagtcgtgcctgGgcgaccggctcaacggcatc	15	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:151505070G>T	uc003ilw.2	+	1	1994	c.889G>T	c.(889-891)GGC>TGC	p.G297C	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	297					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GTCGTGCCTGGGCGACCGGCT	0.617													T	151505070	G	T	151505070	3	4	265	1	0	0	0	0	1	0	0	0	9142	1232	43	5	891	5	MAB21L2	4	151505070	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7398195	151505070	39649206	242	131531											
DCHS2	54798	broad.mit.edu	37	chr4	155254527	155254527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccgtgagcacaaccaCgggctgcgtctcgtgatcca	11	15	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:155254527C>T	uc003inw.2	-	9	1336	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M	DCHS2_uc003inx.2_Missense_Mutation_p.V945M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	446	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCACAACCACGGGCTGCGTC	0.602													T	155254527	C	T	155254527	3	4	265	1	0	0	0	0	1	0	0	0	4288	536	19	1	7578	1	DCHS2	4	155254527	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3749457	155254527	35899749	243	131532											
DDX60	55601	broad.mit.edu	37	chr4	169227858	169227858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagggaagttgaaatacGcatactcggcatcctgtgga	12	8	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:169227858G>A	uc003irp.2	-	5	570	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	93							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTGAAATACGCATACTCGGC	0.368													A	169227858	G	A	169227858	3	1	265	1	0	0	0	0	1	0	0	0	4378	1087	38	1	4996	1	DDX60	4	169227858	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	13973331	169227858	21926418	244	131533											
ODZ3	55714	broad.mit.edu	37	chr4	183714567	183714567	+	Frame_Shift_Del	DEL	T	T	-													gtctaggacagcacctgcagTttttttatgctgacttaact							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:183714567delT	uc003ivd.1	+	25	6779	c.6742delT	c.(6742-6744)TTTfs	p.F2248fs		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2248	YD 22.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCACCTGCAGTTTTTTTATGC	0.443													-	183714567	T	-	183714567	7	5	265	1	0	1	0	1	0	0	0	0	10836	1725	60	0	6840	0	ODZ3	4	183714567	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	14486709	183714567	7439709	245	131534											
CCDC110	256309	broad.mit.edu	37	chr4	186379943	186379943	+	Frame_Shift_Del	DEL	T	T	-													tagttcatttccaagtgagcTtttttcttttagaagctggt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:186379943delT	uc003ixu.3	-	6	1874	c.1798delA	c.(1798-1800)AGCfs	p.S600fs	CCDC110_uc003ixv.3_Frame_Shift_Del_p.S563fs|CCDC110_uc011ckt.1_Frame_Shift_Del_p.S600fs	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	600	Potential.					nucleus				central_nervous_system(1)	1		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)		CCAAGTGAGCTTTTTTCTTTT	0.323													-	186379943	T	-	186379943	7	5	265	1	0	1	0	1	0	0	0	0	2747	1609	56	0	711	0	CCDC110	4	186379943	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	2665376	186379943	4774333	246	131535											
SORBS2	8470	broad.mit.edu	37	chr4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-													taagaagaatacttacggttCccccccaccttgaatatttt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:186515043_186515043TC>T	uc003iyg.3	-	18	3505	c.3473_3473GA>A	c.(3472-3474)gaafs	p.E1158fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.E768fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.E605fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.E675fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.E610fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.E588fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.E1144fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.E1044fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.E635fs|SORBS2_uc011cku.2_Frame_Shift_Del_p.E436fs|SORBS2_uc011ckv.2_Frame_Shift_Del_p.E948fs|SORBS2_uc003iyd.3_Frame_Shift_Del_p.E743fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.E617fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.E564fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.E517fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.E497fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.E580fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	1044						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		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)		TACTTACGGTTCCCCCCCACC	0.353													-	186515044	C	-	186515044	7	5	265	1	0	1	0	1	0	0	0	0	14928	864	30	0	184	0	SORBS2	4	186515044	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	135101	186515044	4639232	247	131536											
SLC12A7	10723	broad.mit.edu	37	chr5	1057726	1057726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcctggctgccgccgcGgtgtgggacgcggtgttcct	18	12	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:1057726G>A	uc003jbu.2	-	22	2952	c.2886C>T	c.(2884-2886)ACC>ACT	p.T962T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	962	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	CTGCCGCCGCGGTGTGGGACG	0.652													A	1057726	G	A	1057726	2	1	265	1	0	0	0	0	0	0	0	1	14388	1103	39	1		1	SLC12A7	5	1057726	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		1057726	179857534	248	131537											
TRIO	7204	broad.mit.edu	37	chr5	14387627	14387627	+	Frame_Shift_Del	DEL	A	A	-													catgcccatgcggcagagatAaaaaaatgtgttactgctgt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:14387627delA	uc003jff.2	+	22	3657	c.3651delA	c.(3649-3651)ATAfs	p.I1217fs	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Frame_Shift_Del_p.I1168fs|TRIO_uc003jfh.1_Frame_Shift_Del_p.I866fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1217					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CGGCAGAGATAAAAAAATGTG	0.443													-	14387627	A	-	14387627	7	5	265	1	0	1	0	1	0	0	0	0	16549	352	13	0	3737	0	TRIO	5	14387627	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	13329901	14387627	166527633	249	131538											
PDZD2	23037	broad.mit.edu	37	chr5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G													gactatggtgaaaagcgcagINSggggggcaagaagaggaaaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	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						TGAAAAGCGCAGGGGGGGCAAG	0.574													G	31799658	-	G	31799657	7	5	265	1	0	1	1	0	0	0	0	0	11701	1000	35	0	304	0	PDZD2	5	31799657	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	17412030	31799657	149115603	250	131539											
ITGA1	3672	broad.mit.edu	37	chr5	52214676	52214676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtatgcataaatgctacAgtgtgttttgatgtgaaatt	9	4	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:52214676A>G	uc003jou.2	+	16	2155	c.2103A>G	c.(2101-2103)ACA>ACG	p.T701T	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.T232T	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	701	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAAATGCTACAGTGTGTTTTG	0.328													G	52214676	A	G	52214676	2	3	265	1	0	0	0	0	0	0	0	1	7872	175	7	3		3	ITGA1	5	52214676	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	20415019	52214676	128700584	251	131540											
MARVELD2	153562	broad.mit.edu	37	chr5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactgaatttggaattaacGttgccttgtttattttgtat	7	4	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:68716104G>A	uc003jwq.2	+	2	951	c.892G>A	c.(892-894)GTT>ATT	p.V298I	MARVELD2_uc010ixf.2_Missense_Mutation_p.V298I|MARVELD2_uc003jwr.1_Missense_Mutation_p.V298I|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	298	MARVEL.|Helical; (Potential).				sensory perception of sound	integral to membrane|tight junction					0		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)		TGGAATTAACGTTGCCTTGTT	0.423													A	68716104	G	A	68716104	3	1	265	1	0	0	0	0	1	0	0	0	9318	1145	40	1	894	1	MARVELD2	5	68716104	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	16501428	68716104	112199156	252	131541											
VCAN	1462	broad.mit.edu	37	chr5	82816265	82816265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactaaaagtccatttatgGgaaaaacagaagaagaagtc	8	6	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:82816265G>A	uc003kii.3	+	7	2496	c.2140G>A	c.(2140-2142)GGA>AGA	p.G714R	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G714R|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	714	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		TCCATTTATGGGAAAAACAGA	0.368													A	82816265	G	A	82816265	3	1	265	1	0	0	0	0	1	0	0	0	17135	1233	43	4	2162	4	VCAN	5	82816265	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	14100161	82816265	98098995	253	131542											
NR2F1	7025	broad.mit.edu	37	chr5	92924138	92924138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctcaaagccatcgtgCtgttcacgtcaggtgaggct	12	12	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:92924138C>T	uc003kkj.2	+	2	2666	c.979C>T	c.(979-981)CTG>TTG	p.L327L		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	327					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			urinary_tract(1)|ovary(1)|lung(1)	3		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)		AGCCATCGTGCTGTTCACGTC	0.428													T	92924138	C	T	92924138	2	4	265	1	0	0	0	0	0	0	0	1	10627	796	28	2		2	NR2F1	5	92924138	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	10107873	92924138	87991122	254	131543											
SLCO4C1	353189	broad.mit.edu	37	chr5	101606375	101606375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagaatcatcaagaaagGctgttcccagagtataaaga	9	8	2	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:101606375G>A	uc003knm.2	-	3	1042	c.755C>T	c.(754-756)GCC>GTC	p.A252V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	252	Helical; Name=4; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		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)		ATCAAGAAAGGCTGTTCCCAG	0.388													A	101606375	G	A	101606375	3	1	265	1	0	0	0	0	1	0	0	0	14730	1203	42	2	1463	2	SLCO4C1	5	101606375	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	8682237	101606375	79308885	255	131544											
MCC	4163	broad.mit.edu	37	chr5	112487025	112487025	+	Frame_Shift_Del	DEL	T	T	-													cctgtgccttggccaatttcTtttccagaaggtcccgttcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:112487025delT	uc003kqj.3	-	2	682	c.152delA	c.(151-153)AAGfs	p.K51fs	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Frame_Shift_Del_p.K241fs|MCC_uc011cwb.1_Frame_Shift_Del_p.K51fs|MCC_uc010jcd.1_Intron	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	51					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			ovary(1)	1		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)		GGCCAATTTCTTTTCCAGAAG	0.398													-	112487025	T	-	112487025	7	5	265	1	0	1	0	1	0	0	0	0	9373	1609	56	0	2401	0	MCC	5	112487025	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	10880650	112487025	68428235	256	131545											
HSD17B4	3295	broad.mit.edu	37	chr5	118829515	118829515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtttctataaccagtaCgctgggagcggactcttgga	11	8	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:118829515C>T	uc003ksj.2	+	11	865	c.742C>T	c.(742-744)CGC>TGC	p.R248C	HSD17B4_uc011cwg.1_Missense_Mutation_p.R224C|HSD17B4_uc011cwh.1_Missense_Mutation_p.R230C|HSD17B4_uc011cwi.1_Missense_Mutation_p.R273C|HSD17B4_uc003ksk.3_Missense_Mutation_p.R101C|HSD17B4_uc011cwj.1_Missense_Mutation_p.R101C|HSD17B4_uc010jcn.1_Translation_Start_Site	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	248	(3R)-hydroxyacyl-CoA dehydrogenase.				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			ovary(1)|pancreas(1)	2		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)	ATAACCAGTACGCTGGGAGCG	0.398													T	118829515	C	T	118829515	3	4	265	1	0	0	0	0	1	0	0	0	7386	536	19	1	784	1	HSD17B4	5	118829515	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6342490	118829515	62085745	257	131546											
LMNB1	4001	broad.mit.edu	37	chr5	126154700	126154701	+	Frame_Shift_Del	DEL	AG	AG	-													cgtcgcatgctgacagacaaAgagagagagatggcggaaat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:126154699_126154700AAG>A	uc003kud.2	+	5	1911_1912	c.1025_1026AAG>A	c.(1024-1026)aaafs	p.K342fs	LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_Frame_Shift_Del_p.K132fs	NM_005573	NP_001185486	P20700	LMNB1_HUMAN	Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA.	342	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CTGACAGACAAAGAGAGAGAGA	0.421													-	126154701	AG	-	126154700	7	5	265	1	0	1	0	1	0	0	0	0	8849	69	3	0	1048	0	LMNB1	5	126154700	Frame_Shift_Del	DEL	AG	TCGA-HU-A4G9-01A-11D-A24D-08	7325185	126154700	54760560	258	131547											
ADAMTS19	171019	broad.mit.edu	37	chr5	128797351	128797351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggggcagcatccgccccGcaacctcccgcgccaccaga	11	20	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:128797351G>A	uc003kvb.1	+	2	630	c.630G>A	c.(628-630)CCG>CCA	p.P210P	ADAMTS19_uc003kvc.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	210	Pro-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		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)		CATCCGCCCCGCAACCTCCCG	0.711													A	128797351	G	A	128797351	2	1	265	1	0	0	0	0	0	0	0	1	264	1074	38	1		1	ADAMTS19	5	128797351	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2642651	128797351	52117909	259	131548											
CHSY3	337876	broad.mit.edu	37	chr5	129241306	129241306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggttcatgcgcgccgacGacgatgtctacatcaaaggt	12	10	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:129241306G>A	uc003kvd.2	+	1	784	c.784G>A	c.(784-786)GAC>AAC	p.D262N		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	262	Lumenal (Potential).					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			ovary(2)|pancreas(1)	3		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)		GCGCGCCGACGACGATGTCTA	0.567													A	129241306	G	A	129241306	3	1	265	1	0	0	0	0	1	0	0	0	3413	1058	37	1	786	1	CHSY3	5	129241306	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	443955	129241306	51673954	260	131549											
IL13	3596	broad.mit.edu	37	chr5	131993886	131993886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacccagcctatgcatcCgctcctcaatcctctcctgt	5	19	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:131993886C>T	uc003kxj.1	+	1	22	c.8C>T	c.(7-9)CCG>CTG	p.P3L		NM_002188	NP_002179	P35225	IL13_HUMAN	interleukin 13 precursor	3					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			ovary(1)|skin(1)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTATGCATCCGCTCCTCAAT	0.582											OREG0003464	type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	131993886	C	T	131993886	3	4	265	1	0	0	0	0	1	0	0	0	7628	652	23	1	10	1	IL13	5	131993886	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2752580	131993886	48921374	261	131550											
BRD8	10902	broad.mit.edu	37	chr5	137505021	137505022	+	Frame_Shift_Ins	INS	-	-	G													atcacagtgggtaacctccgINSggggggtgtttttactgctt					rs150525307	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:137505020_137505021C>CG	uc003lcf.1	-	7	587_588	c.532_533G>CG	c.(532-534)cggfs	p.R178fs	BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Frame_Shift_Ins_p.R34fs|BRD8_uc003lcg.3_Frame_Shift_Ins_p.R178fs|BRD8_uc003lci.3_Frame_Shift_Ins_p.R178fs|BRD8_uc011cym.2_Frame_Shift_Ins_p.R162fs|BRD8_uc011cyn.1_Frame_Shift_Ins_p.R137fs|BRD8_uc010jes.1_Frame_Shift_Ins_p.R45fs	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	178					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R178Q(2)|p.R178fs*20(2)		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)			GGGTAACCTCCGGGGGGGTGTT	0.441													G	137505022	-	G	137505021	7	5	265	1	0	1	1	0	0	0	0	0	1506	1115	39	0	3542	0	BRD8	5	137505021	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	5511135	137505021	43410239	262	131551											
KIF20A	10112	broad.mit.edu	37	chr5	137519413	137519413	+	Frame_Shift_Del	DEL	G	G	-													atcaggatcctacaccttcaGggggaaggagatatagtccc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:137519413delG	uc003lcj.2	+	10	1672	c.1176delG	c.(1174-1176)CAGfs	p.Q392fs	KIF20A_uc011cyo.1_Frame_Shift_Del_p.Q374fs	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	392	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACACCTTCAGGGGGAAGGAG	0.423													-	137519413	G	-	137519413	7	5	265	1	0	1	0	1	0	0	0	0	8286	991	35	0	1210	0	KIF20A	5	137519413	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	14392	137519413	43395847	263	131552											
PCDHA7	56141	broad.mit.edu	37	chr5	140215251	140215251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctggtggttaccgcgcGggacgggggctcgccttctc	17	12	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:140215251G>A	uc003lhq.2	+	1	1283	c.1283G>A	c.(1282-1284)CGG>CAG	p.R428Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428Q	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	428	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTACCGCGCGGGACGGGGGC	0.617													A	140215251	G	A	140215251	3	1	265	1	0	0	0	0	1	0	0	0	11529	1116	39	1	1285	1	PCDHA7	5	140215251	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2695838	140215251	40700009	264	131553											
PCDH1	5097	broad.mit.edu	37	chr5	141242842	141242842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgcggtagctgtagtcGgagtactgctcagagcccgt	15	9	1	1	rs149883982		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:141242842G>A	uc003llq.2	-	3	3171	c.3054C>T	c.(3052-3054)TCC>TCT	p.S1018S	PCDH1_uc003llp.2_Silent_p.S1018S|PCDH1_uc011dbf.1_Silent_p.S996S	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	1018	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		AGCTGTAGTCGGAGTACTGCT	0.632													A	141242842	G	A	141242842	2	1	265	1	0	0	0	0	0	0	0	1	11506	1103	39	1		1	PCDH1	5	141242842	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1027591	141242842	39672418	265	131554											
POU4F3	5459	broad.mit.edu	37	chr5	145719765	145719765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggccgaggccgccTaccgagagaagaacagcaag	16	10	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:145719765T>C	uc003loa.2	+	2	864	c.775T>C	c.(775-777)TAC>CAC	p.Y259H		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	259					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCCGCCTACCGAGAGAA	0.607													C	145719765	T	C	145719765	3	2	265	1	0	0	0	0	1	0	0	0	12280	1522	53	3	781	3	POU4F3	5	145719765	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	4476923	145719765	35195495	266	131555											
CSF1R	1436	broad.mit.edu	37	chr5	149447865	149447865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accaccactggtgtgaagagGaactcatccgggggatgcgt	14	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149447865G>T	uc003lrl.2	-	10	1734	c.1539C>A	c.(1537-1539)TTC>TTA	p.F513L	CSF1R_uc011dcd.1_Missense_Mutation_p.F365L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.F513L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	513	Helical; (Potential).				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			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTGTGAAGAGGAACTCATCCG	0.498													T	149447865	G	T	149447865	3	4	265	1	0	0	0	0	1	0	0	0	3932	1165	41	5	1427	5	CSF1R	5	149447865	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3728100	149447865	31467395	267	131556											
PDGFRB	5159	broad.mit.edu	37	chr5	149513265	149513265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggatgtgcaggatggagCggatgtggtaaggcatatcc	18	5	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149513265C>T	uc003lro.2	-	6	1287	c.818G>A	c.(817-819)CGC>CAC	p.R273H	PDGFRB_uc010jhd.2_Missense_Mutation_p.R112H|PDGFRB_uc011dcg.1_Missense_Mutation_p.R273H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	273	Extracellular (Potential).|Ig-like C2-type 3.				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	CAGGATGGAGCGGATGTGGTA	0.582			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149513265	C	T	149513265	3	4	265	1	0	0	0	0	1	0	0	0	11662	768	27	1	2574	1	PDGFRB	5	149513265	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	65400	149513265	31401995	268	131557											
SLC6A7	6534	broad.mit.edu	37	chr5	149576672	149576672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacatgatcatcgcctaCgtgctcttctacctcttcgc	5	15	4	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149576672C>T	uc003lrr.2	+	4	788	c.417C>T	c.(415-417)TAC>TAT	p.Y139Y		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	139	Extracellular (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCATCGCCTACGTGCTCTTCT	0.617													T	149576672	C	T	149576672	2	4	265	1	0	0	0	0	0	0	0	1	14689	547	19	1		1	SLC6A7	5	149576672	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	63407	149576672	31338588	269	131558											
SLC6A7	6534	broad.mit.edu	37	chr5	149580755	149580755	+	Frame_Shift_Del	DEL	C	C	-													gggcatccagttctatctcaCcccccagttccaccacttgt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149580755delC	uc003lrr.2	+	6	1198	c.827delC	c.(826-828)ACCfs	p.T276fs		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTCTATCTCACCCCCCAGTTC	0.632													-	149580755	C	-	149580755	7	5	265	1	0	1	0	1	0	0	0	0	14689	507	18	0	849	0	SLC6A7	5	149580755	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	4083	149580755	31334505	270	131559											
ITK	3702	broad.mit.edu	37	chr5	156668718	156668718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaagccccagttacagcaGggctgagatacggtgagcag	14	9	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:156668718G>T	uc003lwo.1	+	11	1130	c.1048G>T	c.(1048-1050)GGG>TGG	p.G350W		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	350					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTACAGCAGGGCTGAGATA	0.502			T	SYK	peripheral T-cell lymphoma								T	156668718	G	T	156668718	3	4	265	1	0	0	0	0	1	0	0	0	7909	1000	35	5	1090	5	ITK	5	156668718	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7087963	156668718	24246542	271	131560											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						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)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	265	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1927348	158596066	22319194	272	131561											
LCP2	3937	broad.mit.edu	37	chr5	169714973	169714973	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagttggaggagtacttaCggcacccggagcttggggaa	16	7	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:169714973C>T	uc003man.1	-	3	395	c.188_splice	c.e3+1	p.P63_splice	LCP2_uc011det.1_Splice_Site	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2						immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	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)		GGAGTACTTACGGCACCCGGA	0.522													T	169714973	C	T	169714973	5	4	265	1	0	0	0	0	0	0	1	0	8692	550	19	1	1488	1	LCP2	5	169714973	Splice_Site	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	11118907	169714973	11200287	273	131562											
TLX3	30012	broad.mit.edu	37	chr5	170737354	170737354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccctcaaaatgacggacGcgcaggtcaagacctggttc	11	12	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:170737354G>A	uc003mbf.2	+	2	704	c.622G>A	c.(622-624)GCG>ACG	p.A208T	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	208	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATGACGGACGCGCAGGTCAA	0.642			T	BCL11B	T-ALL								A	170737354	G	A	170737354	3	1	265	1	0	0	0	0	1	0	0	0	15959	1087	38	1	628	1	TLX3	5	170737354	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1022381	170737354	10177906	274	131563											
BNIP1	662	broad.mit.edu	37	chr5	172590743	172590743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtcacttcttcacgaaCgatcctggatgcaaatgaag	8	10	4	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:172590743C>T	uc003mcj.3	+	6	610	c.506C>T	c.(505-507)ACG>ATG	p.T169M	BNIP1_uc003mci.3_Missense_Mutation_p.T212M|BNIP1_uc003mck.3_Missense_Mutation_p.T178M|BNIP1_uc003mcl.3_Missense_Mutation_p.T135M	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	169	Cytoplasmic (Potential).				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			ovary(1)	1	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)			TCTTCACGAACGATCCTGGAT	0.507													T	172590743	C	T	172590743	3	4	265	1	0	0	0	0	1	0	0	0	1476	536	19	1	661	1	BNIP1	5	172590743	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1853389	172590743	8324517	275	131564											
GPRIN1	114787	broad.mit.edu	37	chr5	176025207	176025207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccaccgcgaggggctcGgccttccctgaggctgtggg	16	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:176025207G>A	uc003meo.1	-	2	1804	c.1629C>T	c.(1627-1629)GCC>GCT	p.A543A		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	543						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGGGGCTCGGCCTTCCCTG	0.637													A	176025207	G	A	176025207	2	1	265	1	0	0	0	0	0	0	0	1	6729	1103	39	1		1	GPRIN1	5	176025207	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3434464	176025207	4890053	276	131565											
GRK6	2870	broad.mit.edu	37	chr5	176863243	176863243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtccccgaggagtattcCgagcgcttttccccgcaggc	13	14	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:176863243C>T	uc011dfz.1	+	12	1387	c.1227C>T	c.(1225-1227)TCC>TCT	p.S409S	GRK6_uc003mgp.2_Silent_p.S409S|GRK6_uc003mgq.2_Silent_p.S409S|GRK6_uc003mgs.1_Silent_p.S379S	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	409	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-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)			AGGAGTATTCCGAGCGCTTTT	0.627													T	176863243	C	T	176863243	2	4	265	1	0	0	0	0	0	0	0	1	6793	639	23	1		1	GRK6	5	176863243	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	838036	176863243	4052017	277	131566											
ZNF354A	6940	broad.mit.edu	37	chr5	178152470	178152470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtttggtaaatgggaGccctgcacataaacaaaaaa	9	6	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:178152470G>A	uc003mjj.2	-	4	361	c.163C>T	c.(163-165)CTC>TTC	p.L55F		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	55	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		GTAAATGGGAGCCCTGCACAT	0.433													A	178152470	G	A	178152470	3	1	265	1	0	0	0	0	1	0	0	0	17861	971	34	2	1662	2	ZNF354A	5	178152470	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1289227	178152470	2762790	278	131567											
ZNF454	285676	broad.mit.edu	37	chr5	178373922	178373922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaggacccaaaccagataCgttttcccagctagaaaaaa	6	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:178373922C>T	uc003mjo.1	+	4	456	c.185C>T	c.(184-186)ACG>ATG	p.T62M	ZNF454_uc010jkz.1_Missense_Mutation_p.T62M|ZNF454_uc003mjp.2_Silent_p.Y97Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAACCAGATACGTTTTCCCAG	0.463													T	178373922	C	T	178373922	3	4	265	1	0	0	0	0	1	0	0	0	17920	536	19	1	195	1	ZNF454	5	178373922	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	221452	178373922	2541338	279	131568											
BPHL	670	broad.mit.edu	37	chr6	3140675	3140675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgccttgattgtgcaCggtgagaaggatcctctggt	13	11	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:3140675C>T	uc003mva.2	+	6	769	c.720C>T	c.(718-720)CAC>CAT	p.H240H	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.H223H	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	240					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGATTGTGCACGGTGAGAAGG	0.572													T	3140675	C	T	3140675	2	4	265	1	0	0	0	0	0	0	0	1	1489	535	19	1		1	BPHL	6	3140675	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		3140675	167974392	280	131569											
RREB1	6239	broad.mit.edu	37	chr6	7230385	7230385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgccgccgacaaggccGcgctcatccgccacctgcgc	10	20	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:7230385G>A	uc003mxc.2	+	10	2443	c.2053G>A	c.(2053-2055)GCG>ACG	p.A685T	RREB1_uc003mxb.2_Missense_Mutation_p.A685T|RREB1_uc010jnx.2_Missense_Mutation_p.A685T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	685	C2H2-type 8.				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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGACAAGGCCGCGCTCATCCG	0.632													A	7230385	G	A	7230385	3	1	265	1	0	0	0	0	1	0	0	0	13679	1087	38	1	2079	1	RREB1	6	7230385	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4089710	7230385	163884682	281	131570											
CAGE1	285782	broad.mit.edu	37	chr6	7365800	7365800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcttcatctgaatcacaGtctatgacctgagattaaat	7	8	4	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:7365800G>T	uc003mxi.2	-	7	2326	c.1605C>A	c.(1603-1605)GAC>GAA	p.D535E	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.D453E|CAGE1_uc003mxk.1_Missense_Mutation_p.D453E	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	671											0	Ovarian(93;0.0418)					CTGAATCACAGTCTATGACCT	0.353													T	7365800	G	T	7365800	3	4	265	1	0	0	0	0	1	0	0	0	2572	1020	36	5	555	5	CAGE1	6	7365800	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	135415	7365800	163749267	282	131571											
KIAA0319	9856	broad.mit.edu	37	chr6	24596335	24596335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggccccctcgctgccCggcagtaggccccagtccgt	12	17	0	1	rs148257977	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:24596335C>T	uc011djo.1	-	3	804	c.567G>A	c.(565-567)CCG>CCA	p.P189P	KIAA0319_uc011djp.1_Silent_p.P144P|KIAA0319_uc003neh.1_Silent_p.P189P|KIAA0319_uc011djq.1_Silent_p.P180P|KIAA0319_uc011djr.1_Silent_p.P189P	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	189	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						CCTCGCTGCCCGGCAGTAGGC	0.622													T	24596335	C	T	24596335	2	4	265	1	0	0	0	0	0	0	0	1	8168	639	23	1		1	KIAA0319	6	24596335	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	17230535	24596335	146518732	283	131572											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861423	27861423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcatcgaaggccatgggCatcatgaactccttcgtcaa	8	12	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:27861423C>T	uc003nkc.1	+	1	221	c.183C>T	c.(181-183)GGC>GGT	p.G61G	HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	61					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGGCCATGGGCATCATGAACT	0.562													T	27861423	C	T	27861423	2	4	265	1	0	0	0	0	0	0	0	1	7154	697	25	2		2	HIST1H2BO	6	27861423	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3265088	27861423	143253644	284	131573											
EHMT2	10919	broad.mit.edu	37	chr6	31864763	31864763	+	Frame_Shift_Del	DEL	C	C	-													ccccatctcagcgggggcctCcccctgggaggggagacaag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:31864763delC	uc003nxz.1	-	2	56	c.46delG	c.(46-48)GAGfs	p.E16fs	EHMT2_uc003nxy.1_5'Flank|EHMT2_uc011don.1_Frame_Shift_Del_p.E73fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.E16fs|EHMT2_uc003nyb.1_Frame_Shift_Del_p.E16fs|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	16					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GCGGGGGCCTCCCCCTGGGAG	0.652													-	31864763	C	-	31864763	7	5	265	1	0	1	0	1	0	0	0	0	4984	864	30	0	3694	0	EHMT2	6	31864763	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	4003340	31864763	139250304	285	131574											
GPSM3	63940	broad.mit.edu	37	chr6	32160020	32160020	+	Frame_Shift_Del	DEL	G	G	-													gccagccttcctcatcctgaGgggggccctgatgccaaaat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:32160020delG	uc003oay.3	-	2	443	c.50delC	c.(49-51)CCTfs	p.P17fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Frame_Shift_Del_p.L7fs|GPSM3_uc003oaz.2_Frame_Shift_Del_p.P17fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	17	Pro-rich.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTCATCCTGAGGGGGGCCCTG	0.622													-	32160020	G	-	32160020	7	5	265	1	0	1	0	1	0	0	0	0	6736	1000	35	0	444	0	GPSM3	6	32160020	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	295257	32160020	138955047	286	131575											
BRD2	6046	broad.mit.edu	37	chr6	32947706	32947706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagttacgatgagaagcGgcagctgagcctggacatca	13	9	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:32947706G>A	uc003ocn.3	+	11	3644	c.1943G>A	c.(1942-1944)CGG>CAG	p.R648Q	BRD2_uc003ocq.3_Missense_Mutation_p.R648Q|BRD2_uc003ocp.3_Missense_Mutation_p.R528Q|BRD2_uc010juh.2_Missense_Mutation_p.R683Q	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	648	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GATGAGAAGCGGCAGCTGAGC	0.537													A	32947706	G	A	32947706	3	1	265	1	0	0	0	0	1	0	0	0	1502	1116	39	1	1981	1	BRD2	6	32947706	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	787686	32947706	138167361	287	131576											
CDKN1A	1026	broad.mit.edu	37	chr6	36652259	36652259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctcaggggagcaggcTgaagggtccccaggtggacc	16	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:36652259T>C	uc003omm.3	+	2	503	c.381T>C	c.(379-381)GCT>GCC	p.A127A	CDKN1A_uc011dtq.1_Silent_p.A161A|CDKN1A_uc003oml.2_Silent_p.A127A|CDKN1A_uc003omn.2_Silent_p.A127A	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	127					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						GGGAGCAGGCTGAAGGGTCCC	0.612									Multiple_Endocrine_Neoplasia_type_1				C	36652259	T	C	36652259	2	2	265	1	0	0	0	0	0	0	0	1	3158	1567	55	3		3	CDKN1A	6	36652259	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	3704553	36652259	134462808	288	131577											
FOXP4	116113	broad.mit.edu	37	chr6	41553174	41553174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacccccccagctacaGgagtactacaagaagcagca	7	17	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:41553174G>A	uc003oql.2	+	5	887	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q	FOXP4_uc003oqm.2_Splice_Site_p.E142_splice|FOXP4_uc003oqn.2_Silent_p.Q143Q	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	143	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCAGCTACAGGAGTACTACA	0.632													A	41553174	G	A	41553174	2	1	265	1	0	0	0	0	0	0	0	1	6029	1014	35	4		4	FOXP4	6	41553174	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4900915	41553174	129561893	289	131578											
KIAA0240	23506	broad.mit.edu	37	chr6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-													ctgcagaaggaaacatttctAaaaaaacagaatgccttggc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:42832626_42832626TA>T	uc003osn.1	+	12	2833	c.2682_2682TA>T	c.(2680-2682)tctfs	p.S894fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	894										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GAAACATTTCTAAAAAAACAG	0.493													-	42832627	A	-	42832627	7	5	265	1	0	1	0	1	0	0	0	0	8164	363	13	0	2725	0	KIAA0240	6	42832627	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1279453	42832627	128282440	290	131579											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974387	42974387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttcaacctcagcaagaatCgggagctgcagaagcttcct	10	12	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:42974387C>T	uc003oth.2	+	3	378	c.292C>T	c.(292-294)CGG>TGG	p.R98W	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Intron|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	98					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			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)			CAGCAAGAATCGGGAGCTGCA	0.562													T	42974387	C	T	42974387	3	4	265	1	0	0	0	0	1	0	0	0	12395	875	31	1	302	1	PPP2R5D	6	42974387	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	141760	42974387	128140680	291	131580											
KLHDC3	116138	broad.mit.edu	37	chr6	42985381	42985381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacagtcctcctttggggCgggcggaatgacaccgaagg	15	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:42985381C>T	uc003otl.2	+	3	448	c.279C>T	c.(277-279)GGC>GGT	p.G93G	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.G93G|KLHDC3_uc003otn.2_Missense_Mutation_p.A16V|KLHDC3_uc003oto.2_Intron	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	93	Kelch 2.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCTTTGGGGCGGGCGGAATG	0.572													T	42985381	C	T	42985381	2	4	265	1	0	0	0	0	0	0	0	1	8357	755	27	1		1	KLHDC3	6	42985381	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	10994	42985381	128129686	292	131581											
TTBK1	84630	broad.mit.edu	37	chr6	43252016	43252016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcagatcccatggcGcggccccagcattggacaca	11	17	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:43252016G>A	uc003ouq.1	+	14	3817	c.3538G>A	c.(3538-3540)GCG>ACG	p.A1180T		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1180						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATCCCATGGCGCGGCCCCAGC	0.701													A	43252016	G	A	43252016	3	1	265	1	0	0	0	0	1	0	0	0	16673	1087	38	1	3588	1	TTBK1	6	43252016	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	266635	43252016	127863051	293	131582											
CLIC5	53405	broad.mit.edu	37	chr6	45922903	45922903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtggtgacattgaacaCgactcctttcagccagagga	10	11	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:45922903C>T	uc003oxv.3	-	2	725	c.619G>A	c.(619-621)GTG>ATG	p.V207M	CLIC5_uc003oxu.3_Missense_Mutation_p.V48M|CLIC5_uc003oxx.2_Missense_Mutation_p.V48M	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	207	Helical; Note=After insertion into the membrane; (Potential).				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						ACATTGAACACGACTCCTTTC	0.478													T	45922903	C	T	45922903	3	4	265	1	0	0	0	0	1	0	0	0	3529	536	19	1	633	1	CLIC5	6	45922903	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2670887	45922903	125192164	294	131583											
MEP1A	4224	broad.mit.edu	37	chr6	46806746	46806746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacatgctttcttctacaCgggggagcgctgtcaggccg	14	11	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:46806746C>T	uc010jzh.1	+	14	2156	c.2114C>T	c.(2113-2115)ACG>ATG	p.T705M	MEP1A_uc011dwg.1_Missense_Mutation_p.T427M|MEP1A_uc011dwh.1_Missense_Mutation_p.T733M|MEP1A_uc011dwi.1_Missense_Mutation_p.T605M	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	705	EGF-like.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			TTCTTCTACACGGGGGAGCGC	0.587													T	46806746	C	T	46806746	3	4	265	1	0	0	0	0	1	0	0	0	9475	536	19	1	2168	1	MEP1A	6	46806746	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	883843	46806746	124308321	295	131584											
MUT	4594	broad.mit.edu	37	chr6	49426894	49426894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtatacatggtaggatAtggtccacgtgtgaatggct	13	5	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:49426894A>G	uc003ozg.3	-	2	541	c.286T>C	c.(286-288)TAT>CAT	p.Y96H		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	96					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGTAGGATATGGTCCACGT	0.448													G	49426894	A	G	49426894	3	3	265	1	0	0	0	0	1	0	0	0	9991	449	16	3	2014	3	MUT	6	49426894	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2620148	49426894	121688173	296	131585											
KCNQ5	56479	broad.mit.edu	37	chr6	73843172	73843172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagttttaaggagcgagtgCgcatggctagccccaggggc	15	9	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:73843172C>T	uc003pgk.2	+	10	1623	c.1276C>T	c.(1276-1278)CGC>TGC	p.R426C	KCNQ5_uc011dyh.1_Missense_Mutation_p.R445C|KCNQ5_uc011dyi.1_Missense_Mutation_p.R436C|KCNQ5_uc010kat.2_Missense_Mutation_p.R417C|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R176C	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	426					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGAGCGAGTGCGCATGGCTAG	0.507													T	73843172	C	T	73843172	3	4	265	1	0	0	0	0	1	0	0	0	8086	768	27	1	1375	1	KCNQ5	6	73843172	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	24416278	73843172	97271895	297	131586											
CYB5R4	51167	broad.mit.edu	37	chr6	84634231	84634232	+	Frame_Shift_Ins	INS	-	-	A													aaaatagagattgttctacaINSaaaaaaagagaatacttctt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:84634230_84634231C>CA	uc003pkf.3	+	9	865_866	c.733_734C>CA	c.(733-735)caafs	p.Q245fs		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	245	CS.				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	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			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)		GATTGTTCTACAAAAAAAAGAG	0.337													A	84634232	-	A	84634231	7	5	265	1	0	1	1	0	0	0	0	0	4129	130	5	0	772	0	CYB5R4	6	84634231	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	10791059	84634231	86480836	298	131587											
CASP8AP2	9994	broad.mit.edu	37	chr6	90573828	90573828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactggttgagagtaagtcGtgtcatctggagccttgctt	12	9	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:90573828G>A	uc003pnr.2	+	7	2596	c.2400G>A	c.(2398-2400)TCG>TCA	p.S800S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S800S|CASP8AP2_uc011dzz.1_Silent_p.S800S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	800					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			ovary(2)	2		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)		AGAGTAAGTCGTGTCATCTGG	0.403													A	90573828	G	A	90573828	2	1	265	1	0	0	0	0	0	0	0	1	2678	1132	40	1		1	CASP8AP2	6	90573828	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5939597	90573828	80541239	299	131588											
MANEA	79694	broad.mit.edu	37	chr6	96034484	96034484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgaactattcatttggggAaaaattttgatttccaaaag	7	5	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:96034484A>G	uc003poo.1	+	2	309	c.169A>G	c.(169-171)AAA>GAA	p.K57E	MANEA_uc003pon.2_Missense_Mutation_p.K57E	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	57	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		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)		TCATTTGGGGAAAAATTTTGA	0.358													G	96034484	A	G	96034484	3	3	265	1	0	0	0	0	1	0	0	0	9221	247	9	3	171	3	MANEA	6	96034484	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	5460656	96034484	75080583	300	131589											
MANEA	79694	broad.mit.edu	37	chr6	96034832	96034832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcatagaaactcacAtgagacaaatgcgctcagct	7	11	4	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:96034832A>G	uc003poo.1	+	2	657	c.517A>G	c.(517-519)ATG>GTG	p.M173V	MANEA_uc003pon.2_Missense_Mutation_p.M173V	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	173	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		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)		AGAAACTCACATGAGACAAAT	0.318													G	96034832	A	G	96034832	3	3	265	1	0	0	0	0	1	0	0	0	9221	217	8	3	519	3	MANEA	6	96034832	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	348	96034832	75080235	301	131590											
KIAA0776	23376	broad.mit.edu	37	chr6	96986656	96986656	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgactgtacagaactgttCcgtgagctgatgcaccagaa	10	9	0	5			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:96986656C>T	uc003por.2	+	10	1176	c.1128C>T	c.(1126-1128)TTC>TTT	p.F376F	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	376					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CAGAACTGTTCCGTGAGCTGA	0.373													T	96986656	C	T	96986656	2	4	265	1	0	0	0	0	0	0	0	1	8193	854	30	4		4	KIAA0776	6	96986656	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	951824	96986656	74128411	302	131591											
SFRS18	25957	broad.mit.edu	37	chr6	99848925	99848925	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaattttacgcctatctcGactcctactgcgactggcac	6	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:99848925G>A	uc003ppo.3	-	12	2137	c.1909C>T	c.(1909-1911)CGA>TGA	p.R637*	SFRS18_uc003ppl.2_Nonsense_Mutation_p.R183*|SFRS18_uc003ppp.3_Nonsense_Mutation_p.R637*|SFRS18_uc011eag.1_Nonsense_Mutation_p.R637*	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	637						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CGCCTATCTCGACTCCTACTG	0.403													A	99848925	G	A	99848925	4	1	265	1	0	0	0	0	0	1	0	0	14174	1066	37	1	512	1	SFRS18	6	99848925	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2862269	99848925	71266142	303	131592											
SFRS18	25957	broad.mit.edu	37	chr6	99857094	99857094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtgcaataggtgaacGctgacgatccctgaatgatg	13	7	0	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:99857094G>A	uc003ppo.3	-	6	856	c.628C>T	c.(628-630)CGT>TGT	p.R210C	SFRS18_uc003ppp.3_Missense_Mutation_p.R210C|SFRS18_uc011eag.1_Missense_Mutation_p.R210C|SFRS18_uc003ppr.2_Missense_Mutation_p.R210C	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	210	Pro-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		ATAGGTGAACGCTGACGATCC	0.463													A	99857094	G	A	99857094	3	1	265	1	0	0	0	0	1	0	0	0	14174	1087	38	1	1817	1	SFRS18	6	99857094	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	8169	99857094	71257973	304	131593											
PRDM13	59336	broad.mit.edu	37	chr6	100054917	100054917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcggcaacaatgcacGgagccgccagagcgccagcc	15	15	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:100054917G>A	uc003pqg.1	+	1	268	c.7G>A	c.(7-9)GGA>AGA	p.G3R		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	3	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AACAATGCACGGAGCCGCCAG	0.692													A	100054917	G	A	100054917	3	1	265	1	0	0	0	0	1	0	0	0	12454	1117	39	1	9	1	PRDM13	6	100054917	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	197823	100054917	71060150	305	131594											
FAM184A	79632	broad.mit.edu	37	chr6	119288105	119288105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattagatatttttcttcCatttcttctaatctgaaaac	2	9	5	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:119288105C>T	uc003pyj.2	-	15	3276	c.2928G>A	c.(2926-2928)ATG>ATA	p.M976I	FAM184A_uc003pyk.3_Missense_Mutation_p.M807I|FAM184A_uc003pyl.3_Missense_Mutation_p.M807I|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	976										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						ATTTTTCTTCCATTTCTTCTA	0.299													T	119288105	C	T	119288105	3	4	265	1	0	0	0	0	1	0	0	0	5511	594	21	4	510	4	FAM184A	6	119288105	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	19233188	119288105	51826962	306	131595											
HEY2	23493	broad.mit.edu	37	chr6	126080802	126080802	+	Frame_Shift_Del	DEL	C	C	-													cgggggcattccccatgcttCccccaaacgcagcagcagca							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:126080802delC	uc003qad.2	+	5	1059	c.868delC	c.(868-870)CCCfs	p.P290fs	HEY2_uc011ebr.1_Frame_Shift_Del_p.P244fs	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	290	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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCCCATGCTTCCCCCAAACGC	0.652													-	126080802	C	-	126080802	7	5	265	1	0	1	0	1	0	0	0	0	7079	855	30	0	886	0	HEY2	6	126080802	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	6792697	126080802	45034265	307	131596											
ENPP1	5167	broad.mit.edu	37	chr6	132179844	132179844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactaaaaacatgagaccggTatatccaacaaaaactttcc	4	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:132179844T>C	uc011ecf.1	+	7	772	c.752T>C	c.(751-753)GTA>GCA	p.V251A	ENPP1_uc003qcy.2_5'Flank	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	251	Phosphodiesterase.|Extracellular (Potential).				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			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGAGACCGGTATATCCAACA	0.343													C	132179844	T	C	132179844	3	2	265	1	0	0	0	0	1	0	0	0	5129	1638	57	3	778	3	ENPP1	6	132179844	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	6099042	132179844	38935223	308	131597											
TAAR1	134864	broad.mit.edu	37	chr6	132966154	132966154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attccaaaaataatttacacCtggatgaatctttttggaaa	5	6	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:132966154C>A	uc003qdm.1	-	1	989	c.989G>T	c.(988-990)AGG>ATG	p.R330M		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	330	Cytoplasmic (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TAATTTACACCTGGATGAATC	0.294													A	132966154	C	A	132966154	3	1	265	1	0	0	0	0	1	0	0	0	15486	681	24	5	34	5	TAAR1	6	132966154	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	786310	132966154	38148913	309	131598											
HECA	51696	broad.mit.edu	37	chr6	139488396	139488396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagttcccactggtggatgGaactttgttcctaagcccgt	10	11	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:139488396G>A	uc003qin.2	+	2	1532	c.1247G>A	c.(1246-1248)GGA>GAA	p.G416E		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	416					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTGGTGGATGGAACTTTGTTC	0.517													A	139488396	G	A	139488396	3	1	265	1	0	0	0	0	1	0	0	0	7038	1174	41	4	1253	4	HECA	6	139488396	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	6522242	139488396	31626671	310	131599											
GRM1	2911	broad.mit.edu	37	chr6	146351103	146351103	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtccctccccccaggCaggactaagaagcccattgc	10	17	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:146351103C>A	uc010khw.1	+	2	920	c.450C>A	c.(448-450)GGC>GGA	p.G150G	GRM1_uc010khu.1_Silent_p.G150G|GRM1_uc010khv.1_Silent_p.G150G|GRM1_uc003qll.2_Silent_p.G150G|GRM1_uc011edz.1_Silent_p.G150G|GRM1_uc011eea.1_Silent_p.G150G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	150	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCCCCCAGGCAGGACTAAGA	0.562													A	146351103	C	A	146351103	2	1	265	1	0	0	0	0	0	0	0	1	6796	697	25	5		5	GRM1	6	146351103	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6862707	146351103	24763964	311	131600											
LATS1	9113	broad.mit.edu	37	chr6	150023031	150023031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtttcgaatttcctgcaAggctttatgatgcgtcccaa	9	9	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:150023031A>G	uc003qmu.1	-	2	780	c.232T>C	c.(232-234)TTG>CTG	p.L78L	LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Silent_p.L78L|LATS1_uc003qmw.2_Silent_p.L78L|LATS1_uc010kig.1_5'UTR	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	78					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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATTTCCTGCAAGGCTTTATGA	0.413													G	150023031	A	G	150023031	2	3	265	1	0	0	0	0	0	0	0	1	8646	69	3	3		3	LATS1	6	150023031	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3671928	150023031	21092036	312	131601											
TIAM2	26230	broad.mit.edu	37	chr6	155451082	155451082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggtccagcaaaggcagctCcctgagttctgagtcatcct	11	13	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:155451082C>T	uc003qqb.2	+	6	1998	c.725C>T	c.(724-726)TCC>TTC	p.S242F	TIAM2_uc003qqe.2_Missense_Mutation_p.S242F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	242					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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAAGGCAGCTCCCTGAGTTCT	0.672													T	155451082	C	T	155451082	3	4	265	1	0	0	0	0	1	0	0	0	15888	855	30	4	727	4	TIAM2	6	155451082	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5428051	155451082	15663985	313	131602											
QKI	9444	broad.mit.edu	37	chr6	163899920	163899921	+	Frame_Shift_Ins	INS	-	-	A													caaaggctcaatgagggataINSaaaaaaaggtaagtccttga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:163899919_163899920T>TA	uc003qui.3	+	2	944_945	c.393_394T>TA	c.(391-396)gataaafs	p.D131fs	QKI_uc003quj.3_Frame_Shift_Ins_p.D131fs|QKI_uc003quh.3_Frame_Shift_Ins_p.D131fs|QKI_uc003que.3_Frame_Shift_Ins_p.D131fs|QKI_uc003quf.3_Frame_Shift_Ins_p.D131fs|QKI_uc003qug.3_Frame_Shift_Ins_p.D131fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	131	KH.				RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.K134fs*14(1)		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)		CAATGAGGGATAAAAAAAAGGT	0.361													A	163899921	-	A	163899920	7	5	265	1	0	1	1	0	0	0	0	0	12873	363	13	0	404	0	QKI	6	163899920	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	8448838	163899920	7215147	314	131603											
IQCE	23288	broad.mit.edu	37	chr7	2645582	2645582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggaggaggccatcGtcatcatccagtccgctctg	12	13	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:2645582G>A	uc003smo.3	+	20	2000	c.1816G>A	c.(1816-1818)GTC>ATC	p.V606I	IQCE_uc003sml.1_Missense_Mutation_p.V606I|IQCE_uc011jvy.1_Missense_Mutation_p.V590I|IQCE_uc011jvz.1_Missense_Mutation_p.V541I|IQCE_uc003smk.3_Missense_Mutation_p.V590I|IQCE_uc003smn.3_Missense_Mutation_p.V541I	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	606	IQ 2.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGAGGCCATCGTCATCATCCA	0.687													A	2645582	G	A	2645582	3	1	265	1	0	0	0	0	1	0	0	0	7806	1145	40	1	1894	1	IQCE	7	2645582	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		2645582	156493081	315	131604											
CARD11	84433	broad.mit.edu	37	chr7	2959065	2959065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgaaagggtcgacccgCgcgcacagccactcgtgcct	12	15	1	1	rs141131560	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:2959065C>T	uc003smv.2	-	18	2855	c.2451G>A	c.(2449-2451)GCG>GCA	p.A817A		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	817					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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTCGACCCGCGCGCACAGCC	0.612			Mis		DLBCL								T	2959065	C	T	2959065	2	4	265	1	0	0	0	0	0	0	0	1	2645	755	27	1		1	CARD11	7	2959065	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	313483	2959065	156179598	316	131605											
MMD2	221938	broad.mit.edu	37	chr7	4947221	4947221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccagctcccagatgccctCggtgttgggctgtcggcaag	13	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:4947221C>T	uc003sno.3	-	7	815	c.619G>A	c.(619-621)GAG>AAG	p.E207K	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.E183K|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	207	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CAGATGCCCTCGGTGTTGGGC	0.612													T	4947221	C	T	4947221	3	4	265	1	0	0	0	0	1	0	0	0	9644	893	31	1	197	1	MMD2	7	4947221	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1988156	4947221	154191442	317	131606											
TNRC18	84629	broad.mit.edu	37	chr7	5347890	5347890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccaccaggcacttgtgCgacaccgtctgcacgtcatt	8	17	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:5347890C>T	uc003soi.3	-	30	9103	c.8754G>A	c.(8752-8754)TCG>TCA	p.S2918S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2918	BAH.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCACTTGTGCGACACCGTCT	0.622													T	5347890	C	T	5347890	2	4	265	1	0	0	0	0	0	0	0	1	16336	755	27	1		1	TNRC18	7	5347890	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	400669	5347890	153790773	318	131607											
TNRC18	84629	broad.mit.edu	37	chr7	5348943	5348943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatacggatcatctccttGccgcgcacgatggccttgta	10	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:5348943G>A	uc003soi.3	-	28	8794	c.8445C>T	c.(8443-8445)GGC>GGT	p.G2815G		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2815							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCATCTCCTTGCCGCGCACGA	0.662													A	5348943	G	A	5348943	2	1	265	1	0	0	0	0	0	0	0	1	16336	1306	46	2		2	TNRC18	7	5348943	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1053	5348943	153789720	319	131608											
PMS2	5395	broad.mit.edu	37	chr7	6026915	6026915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggaagtgctgccgtgccccGagtccttctccacctccgct	10	18	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:6026915G>A	uc003spl.2	-	11	1568	c.1481C>T	c.(1480-1482)TCG>TTG	p.S494L	PMS2_uc003spj.2_Missense_Mutation_p.S388L|PMS2_uc003spk.2_Missense_Mutation_p.S359L|PMS2_uc011jwl.1_Missense_Mutation_p.S359L|PMS2_uc010ktg.2_Missense_Mutation_p.S183L|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.S494L	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	494					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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCCGTGCCCCGAGTCCTTCTC	0.622			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	6026915	G	A	6026915	3	1	265	1	0	0	0	0	1	0	0	0	12143	1059	37	1	1127	1	PMS2	7	6026915	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	677972	6026915	153111748	320	131609											
ABCB5	340273	broad.mit.edu	37	chr7	20682989	20682989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcggtgaacttaacactcGcatgacagagtaagaggatg	11	8	0	4	rs117477399	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:20682989G>A	uc010kuh.2	+	6	734	c.497G>A	c.(496-498)CGC>CAC	p.R166H		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CTTAACACTCGCATGACAGAG	0.393													A	20682989	G	A	20682989	3	1	265	1	0	0	0	0	1	0	0	0	44	1087	38	1	515	1	ABCB5	7	20682989	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	14656074	20682989	138455674	321	131610											
HERPUD2	64224	broad.mit.edu	37	chr7	35678044	35678044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggatacactgggaatccaGgtggagcagcttgcccagga	15	10	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:35678044G>T	uc003tet.2	-	5	1338	c.533C>A	c.(532-534)CCT>CAT	p.P178H	HERPUD2_uc003tes.3_Missense_Mutation_p.P178H	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	178					response to unfolded protein	integral to membrane				ovary(3)	3						TGGGAATCCAGGTGGAGCAGC	0.398													T	35678044	G	T	35678044	3	4	265	1	0	0	0	0	1	0	0	0	7064	1000	35	5	703	5	HERPUD2	7	35678044	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	14995055	35678044	123460619	322	131611											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-													agcttatgtccagcagagctGggggggtgcaacccggggga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)					-	44120414	G	-	44120414	7	5	265	1	0	1	0	1	0	0	0	0	12206	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	8442370	44120414	115018249	323	131612											
AEBP1	165	broad.mit.edu	37	chr7	44144463	44144463	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcccaccccgcgggtcCgaaaagcccaggcggggggc	16	17	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:44144463C>T	uc003tkb.2	+	1	504	c.199C>T	c.(199-201)CGA>TGA	p.R67*		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	67	Pro-rich.				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				0						CCCGCGGGTCCGAAAAGCCCA	0.716													T	44144463	C	T	44144463	4	4	265	1	0	0	0	0	0	1	0	0	349	644	23	1	201	1	AEBP1	7	44144463	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	24049	44144463	114994200	324	131613											
POLD2	5425	broad.mit.edu	37	chr7	44157558	44157558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcctcgctgacctccCgcaggatggagggctgcagc	12	16	1	1	rs149066641	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:44157558C>T	uc010kxz.2	-	4	976	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	POLD2_uc003tke.3_Missense_Mutation_p.R109Q|POLD2_uc010kya.2_Missense_Mutation_p.R109Q|POLD2_uc003tkf.3_Missense_Mutation_p.R109Q	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	109					base-excision repair|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	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						GCTGACCTCCCGCAGGATGGA	0.637													T	44157558	C	T	44157558	3	4	265	1	0	0	0	0	1	0	0	0	12191	652	23	1	1119	1	POLD2	7	44157558	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	13095	44157558	114981105	325	131614											
PKD1L1	168507	broad.mit.edu	37	chr7	47925507	47925507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggttggccaagggtcacGggtgaaggttcccgtgagaa	17	8	1	2	rs144656414		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:47925507G>A	uc003tny.1	-	18	2982	c.2982C>T	c.(2980-2982)CCC>CCT	p.P994P		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	994	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CAAGGGTCACGGGTGAAGGTT	0.582													A	47925507	G	A	47925507	2	1	265	1	0	0	0	0	0	0	0	1	11964	1103	39	1		1	PKD1L1	7	47925507	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3767949	47925507	111213156	326	131615											
ABCA13	154664	broad.mit.edu	37	chr7	48563978	48563978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttagtaaacattatcgacGctttttccagaatattattg	5	8	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:48563978G>A	uc003toq.2	+	54	14211	c.14186G>A	c.(14185-14187)CGC>CAC	p.R4729H	ABCA13_uc010kys.1_Missense_Mutation_p.R1804H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.R459H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4729	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CATTATCGACGCTTTTTCCAG	0.353													A	48563978	G	A	48563978	3	1	265	1	0	0	0	0	1	0	0	0	31	1087	38	1	14229	1	ABCA13	7	48563978	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	638471	48563978	110574685	327	131616											
IKZF1	10320	broad.mit.edu	37	chr7	50459497	50459497	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataggatcagagagatctctCgtgctggacagactagcaag	12	8	2	3	rs150385329	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:50459497C>T	uc003tow.3	+	8	954	c.786C>T	c.(784-786)CTC>CTT	p.L262L	IKZF1_uc003tox.3_Silent_p.L220L|IKZF1_uc003toy.3_Silent_p.L220L|IKZF1_uc011kck.1_Silent_p.L175L|IKZF1_uc003toz.3_Silent_p.L232L|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_Silent_p.L14L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	262					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGATCTCTCGTGCTGGACA	0.398			D		ALL								T	50459497	C	T	50459497	2	4	265	1	0	0	0	0	0	0	0	1	7614	871	31	1		1	IKZF1	7	50459497	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1895519	50459497	108679166	328	131617											
FIGNL1	63979	broad.mit.edu	37	chr7	50514212	50514212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagaaccataaaaagaCttcctctgtggattttcaca	7	10	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:50514212C>T	uc003tpc.2	-	4	1151	c.774G>A	c.(772-774)AAG>AAA	p.K258K	FIGNL1_uc003tpb.2_Silent_p.K147K|FIGNL1_uc003tpd.2_Silent_p.K258K|FIGNL1_uc003tpe.2_Silent_p.K258K|FIGNL1_uc010kyy.2_Silent_p.K258K	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	258					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CATAAAAAGACTTCCTCTGTG	0.398													T	50514212	C	T	50514212	2	4	265	1	0	0	0	0	0	0	0	1	5892	564	20	4		4	FIGNL1	7	50514212	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	54715	50514212	108624451	329	131618											
COBL	23242	broad.mit.edu	37	chr7	51095587	51095587	+	Frame_Shift_Del	DEL	T	T	-													ctgtagagaacacactgggcTtttcctctctttctaggaga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:51095586_51095586CT>C	uc003tps.3	-	10	3563	c.3378_3378AG>G	c.(3376-3378)aagfs	p.K1126fs	COBL_uc003tpr.4_Frame_Shift_Del_p.K1069fs|COBL_uc011kcl.2_Frame_Shift_Del_p.K1069fs|COBL_uc003tpp.4_Frame_Shift_Del_p.K855fs|COBL_uc003tpq.4_Frame_Shift_Del_p.K1010fs|COBL_uc003tpo.4_Frame_Shift_Del_p.K611fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1069	WH2 1.									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)					ACACACTGGGCTTTTCCTCTC	0.527													-	51095587	T	-	51095587	7	5	265	1	0	1	0	1	0	0	0	0	3653	1609	56	0	595	0	COBL	7	51095587	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	581375	51095587	108043076	330	131619											
CLIP2	7461	broad.mit.edu	37	chr7	73771801	73771801	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctcaaggcacagcaTgagcaggtgagtggcaggtg	16	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:73771801T>C	uc003uam.2	+	6	1536	c.1209T>C	c.(1207-1209)CAT>CAC	p.H403H	CLIP2_uc003uan.2_Silent_p.H403H	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	403	Potential.					microtubule associated complex				skin(3)	3						AGGCACAGCATGAGCAGGTGA	0.622													C	73771801	T	C	73771801	2	2	265	1	0	0	0	0	0	0	0	1	3533	1461	51	3		3	CLIP2	7	73771801	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	22676214	73771801	85366862	331	131620											
RHBDD2	57414	broad.mit.edu	37	chr7	75511206	75511206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctccctgctctgcggcGctatcatcatctggcgcttt	8	16	5	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:75511206G>A	uc003udw.1	+	2	322	c.238G>A	c.(238-240)GCT>ACT	p.A80T	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	80	Helical; (Potential).					integral to membrane	serine-type endopeptidase activity				0						GCTCTGCGGCGCTATCATCAT	0.562													A	75511206	G	A	75511206	3	1	265	1	0	0	0	0	1	0	0	0	13317	1087	38	1	244	1	RHBDD2	7	75511206	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1739405	75511206	83627457	332	131621											
PCLO	27445	broad.mit.edu	37	chr7	82578874	82578874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggggtcagacatagaaCgctgcatcatcttggctgtc	12	10	3	2	rs139066156	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:82578874C>T	uc003uhx.2	-	6	11319	c.11030G>A	c.(11029-11031)CGT>CAT	p.R3677H	PCLO_uc003uhv.2_Missense_Mutation_p.R3677H|PCLO_uc010lec.2_Missense_Mutation_p.R642H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3608					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGACATAGAACGCTGCATCAT	0.478													T	82578874	C	T	82578874	3	4	265	1	0	0	0	0	1	0	0	0	11583	536	19	1	4495	1	PCLO	7	82578874	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7067668	82578874	76559789	333	131622											
ABCB1	5243	broad.mit.edu	37	chr7	87214926	87214926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatgagaggaagtccaGccccatggatgatggcagcc	13	11	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:87214926G>T	uc003uiz.1	-	5	606	c.188C>A	c.(187-189)GCT>GAT	p.A63D	ABCB1_uc011khc.1_Missense_Mutation_p.A63D	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	63	ABC transmembrane type-1 1.|Helical; (Potential).				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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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)	AGGAAGTCCAGCCCCATGGAT	0.398													T	87214926	G	T	87214926	3	4	265	1	0	0	0	0	1	0	0	0	40	971	34	5	3754	5	ABCB1	7	87214926	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4636052	87214926	71923737	334	131623											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258157	87258157	+	Frame_Shift_Del	DEL	G	G	-													gccatggcctcccggagcctGgggggcctgagcgggatccg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)					CCCGGAGCCTGGGGGGCCTGA	0.701													-	87258157	G	-	87258157	7	5	265	1	0	1	0	1	0	0	0	0	13745	1335	47	0	20	0	RUNDC3B	7	87258157	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	43231	87258157	71880506	335	131624											
AKAP9	10142	broad.mit.edu	37	chr7	91645529	91645529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagaattctggtgattaCatttctgaaaatgaagatcc	8	5	2	5			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:91645529C>T	uc003ulg.2	+	11	3924	c.3699C>T	c.(3697-3699)TAC>TAT	p.Y1233Y	AKAP9_uc003ule.2_Silent_p.Y1245Y|AKAP9_uc003ulf.2_Silent_p.Y1233Y|AKAP9_uc003uli.2_Silent_p.Y858Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1245					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			CTGGTGATTACATTTCTGAAA	0.294			T	BRAF	papillary thyroid								T	91645529	C	T	91645529	2	4	265	1	0	0	0	0	0	0	0	1	459	489	17	4		4	AKAP9	7	91645529	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4387372	91645529	67493134	336	131625											
PEX1	5189	broad.mit.edu	37	chr7	92147285	92147285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattctctttggctcggcGtgtctttggctgaataagga	12	7	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:92147285G>A	uc003uly.2	-	5	640	c.544C>T	c.(544-546)CGC>TGC	p.R182C	PEX1_uc011khr.1_Translation_Start_Site|PEX1_uc010ley.2_Missense_Mutation_p.R182C|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	182					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			ovary(1)|central_nervous_system(1)	2	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)			TTGGCTCGGCGTGTCTTTGGC	0.388													A	92147285	G	A	92147285	3	1	265	1	0	0	0	0	1	0	0	0	11735	1145	40	1	3387	1	PEX1	7	92147285	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	501756	92147285	66991378	337	131626											
SGCE	8910	broad.mit.edu	37	chr7	94285328	94285328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaatgtgccagtggtcGcggggctcatcctgcgtgtc	15	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:94285328G>A	uc003unl.2	-	1	194	c.83C>T	c.(82-84)GCG>GTG	p.A28V	SGCE_uc003unm.2_Missense_Mutation_p.A28V|SGCE_uc003unn.2_Missense_Mutation_p.A28V|SGCE_uc011kic.1_Missense_Mutation_p.A28V|SGCE_uc011kid.1_Missense_Mutation_p.A28V|PEG10_uc011kie.1_5'Flank	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	28	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	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)			GCCAGTGGTCGCGGGGCTCAT	0.697											OREG0018170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	94285328	G	A	94285328	3	1	265	1	0	0	0	0	1	0	0	0	14202	1087	38	1	1426	1	SGCE	7	94285328	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2138043	94285328	64853335	338	131627											
PPP1R9A	55607	broad.mit.edu	37	chr7	94540617	94540617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttcccatgtgtacatgCacagtgactataatgtgtat	9	7	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:94540617C>T	uc003unp.2	+	2	1474	c.1192C>T	c.(1192-1194)CAC>TAC	p.H398Y	PPP1R9A_uc010lfj.2_Missense_Mutation_p.H398Y|PPP1R9A_uc011kif.1_Missense_Mutation_p.H398Y|PPP1R9A_uc003unq.2_Missense_Mutation_p.H398Y|PPP1R9A_uc011kig.1_Missense_Mutation_p.H398Y	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	398						cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTGTACATGCACAGTGACTA	0.443										HNSCC(28;0.073)			T	94540617	C	T	94540617	3	4	265	1	0	0	0	0	1	0	0	0	12378	710	25	2	1194	2	PPP1R9A	7	94540617	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	255289	94540617	64598046	339	131628											
TRRAP	8295	broad.mit.edu	37	chr7	98556979	98556979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcctaggttaatgacaacAccaacacagcggggtcccct	8	13	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:98556979A>G	uc003upp.2	+	44	6543	c.6334A>G	c.(6334-6336)ACC>GCC	p.T2112A	TRRAP_uc011kis.1_Missense_Mutation_p.T2094A|TRRAP_uc003upr.2_Missense_Mutation_p.T1811A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2112	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			TAATGACAACACCAACACAGC	0.552													G	98556979	A	G	98556979	3	3	265	1	0	0	0	0	1	0	0	0	16598	159	6	3	6446	3	TRRAP	7	98556979	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	4016362	98556979	60581684	340	131629											
TRRAP	8295	broad.mit.edu	37	chr7	98609104	98609104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcggggtctccggcccGttgacagcgtccatgattgc	12	14	1	2	rs140449855		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:98609104G>A	uc003upp.2	+	71	11450	c.11241G>A	c.(11239-11241)CCG>CCA	p.P3747P	TRRAP_uc011kis.1_Silent_p.P3718P|TRRAP_uc003upr.2_Silent_p.P3453P|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3747	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			TCTCCGGCCCGTTGACAGCGT	0.592													A	98609104	G	A	98609104	2	1	265	1	0	0	0	0	0	0	0	1	16598	1132	40	1		1	TRRAP	7	98609104	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	52125	98609104	60529559	341	131630											
CPSF4	10898	broad.mit.edu	37	chr7	99051685	99051685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaccccgcaggtcatcGgggtcatgcagagtcaaaac	12	11	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:99051685G>A	uc003uqj.2	+	7	810	c.667G>A	c.(667-669)GGG>AGG	p.G223R	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.G198R|CPSF4_uc003uqk.2_Missense_Mutation_p.G197R|CPSF4_uc011kix.1_Missense_Mutation_p.G145R	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	223					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	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)					GCAGGTCATCGGGGTCATGCA	0.582													A	99051685	G	A	99051685	3	1	265	1	0	0	0	0	1	0	0	0	3828	1116	39	1	693	1	CPSF4	7	99051685	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	442581	99051685	60086978	342	131631											
TAF6	6878	broad.mit.edu	37	chr7	99706154	99706155	+	Frame_Shift_Del	DEL	CA	CA	-													cagctttgccagaacaggagCacagtgtttctgcagaacag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:99706154_99706155delCA	uc003uti.2	-	13	1374_1375	c.1293_1294delTG	c.(1291-1296)TGTGCTfs	p.C431fs	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Frame_Shift_Del_p.C353fs|TAF6_uc003uth.2_Frame_Shift_Del_p.C488fs|TAF6_uc003utk.2_Frame_Shift_Del_p.C431fs|TAF6_uc011kji.1_Frame_Shift_Del_p.C468fs|TAF6_uc003utj.2_Frame_Shift_Del_p.C421fs|TAF6_uc003utl.2_Frame_Shift_Del_p.C431fs|TAF6_uc003utm.2_Frame_Shift_Del_p.C431fs	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	431_432					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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAACAGGAGCACAGTGTTTCT	0.574													-	99706155	CA	-	99706154	7	5	265	1	0	1	0	1	0	0	0	0	15527	710	25	0	751	0	TAF6	7	99706154	Frame_Shift_Del	DEL	CA	TCGA-HU-A4G9-01A-11D-A24D-08	654469	99706154	59432509	343	131632											
ZAN	7455	broad.mit.edu	37	chr7	100357453	100357453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaccgtcaccctgcttaaGggcagacgcactctggtgag	12	13	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:100357453G>A	uc003uwj.2	+	18	3846	c.3681G>A	c.(3679-3681)AAG>AAA	p.K1227K	ZAN_uc003uwk.2_Silent_p.K1227K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1227	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCTGCTTAAGGGCAGACGCA	0.602													A	100357453	G	A	100357453	2	1	265	1	0	0	0	0	0	0	0	1	17510	991	35	4		4	ZAN	7	100357453	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	651299	100357453	58781210	344	131633											
MUC17	140453	broad.mit.edu	37	chr7	100676652	100676654	+	In_Frame_Del	DEL	CTC	CTC	-													ggctagcaccctttcaacaaCtcctgttgactccaacactc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:100676652_100676654delCTC	uc003uxp.1	+	3	2008_2010	c.1955_1957delCTC	c.(1954-1959)ACTCCT>ACT	p.P653del	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	653	Extracellular (Potential).|8.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAACAACTCCTGTTGACTC	0.478													-	100676654	CTC	-	100676652	7	5	265	1	0	1	0	1	0	0	0	0	9974	565	20	0	1965	0	MUC17	7	100676652	In_Frame_Del	DEL	CTC	TCGA-HU-A4G9-01A-11D-A24D-08	319199	100676652	58462011	345	131634											
CUX1	1523	broad.mit.edu	37	chr7	101845115	101845115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaaggccgaagaaacGggcggcgggaaagagaaggg	20	7	0	2	rs115507543	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:101845115G>A	uc003uyx.3	+	18	2576	c.2538G>A	c.(2536-2538)ACG>ACA	p.T846T	CUX1_uc003uys.3_Silent_p.T857T|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	846					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CCGAAGAAACGGGCGGCGGGA	0.687													A	101845115	G	A	101845115	2	1	265	1	0	0	0	0	0	0	0	1	4064	1103	39	1		1	CUX1	7	101845115	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1168463	101845115	57293548	346	131635											
RELN	5649	broad.mit.edu	37	chr7	103368593	103368593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatggttcacagaaggtgaCggcattgccatgcataatcg	11	8	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:103368593C>T	uc003vca.2	-	7	878	c.718G>A	c.(718-720)GTC>ATC	p.V240I	RELN_uc010liz.2_Missense_Mutation_p.V240I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	240					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGAAGGTGACGGCATTGCCA	0.433													T	103368593	C	T	103368593	3	4	265	1	0	0	0	0	1	0	0	0	13220	536	19	1	9900	1	RELN	7	103368593	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1523478	103368593	55770070	347	131636											
CDHR3	222256	broad.mit.edu	37	chr7	105635244	105635244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaatgtctgctaatggCaccctcttctccacaacaga	6	13	4	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:105635244C>T	uc003vdl.3	+	5	669	c.561C>T	c.(559-561)GGC>GGT	p.G187G	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.3_Silent_p.G174G|CDHR3_uc011klt.1_Silent_p.G99G	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	187	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CTGCTAATGGCACCCTCTTCT	0.438													T	105635244	C	T	105635244	2	4	265	1	0	0	0	0	0	0	0	1	3120	697	25	2		2	CDHR3	7	105635244	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2266651	105635244	53503419	348	131637											
LAMB1	3912	broad.mit.edu	37	chr7	107615542	107615542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggattgcaagcacaAgctgtattaaaacaaaatga	8	8	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:107615542A>G	uc003vew.2	-	12	1706	c.1371T>C	c.(1369-1371)TCT>TCC	p.S457S	LAMB1_uc003vev.2_Silent_p.S481S|LAMB1_uc003vex.2_Silent_p.S457S|LAMB1_uc010ljn.1_Silent_p.S543S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	457	Laminin EGF-like 3.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAAGCACAAGCTGTATTAA	0.423													G	107615542	A	G	107615542	2	3	265	1	0	0	0	0	0	0	0	1	8610	86	3	3		3	LAMB1	7	107615542	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1980298	107615542	51523121	349	131638											
DOCK4	9732	broad.mit.edu	37	chr7	111368616	111368616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggcaggggggccgacTgttcattcacctgattttca	12	12	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:111368616T>C	uc003vfx.2	-	52	5884	c.5615A>G	c.(5614-5616)CAG>CGG	p.Q1872R	DOCK4_uc011kml.1_Missense_Mutation_p.Q753R|DOCK4_uc011kmm.1_Missense_Mutation_p.Q741R|DOCK4_uc003vfw.2_Missense_Mutation_p.Q1284R|DOCK4_uc003vfy.2_Missense_Mutation_p.Q1917R|DOCK4_uc003vfv.2_Missense_Mutation_p.Q185R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1872					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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GGGGGCCGACTGTTCATTCAC	0.632													C	111368616	T	C	111368616	3	2	265	1	0	0	0	0	1	0	0	0	4689	1580	55	3	289	3	DOCK4	7	111368616	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	3753074	111368616	47770047	350	131639											
TFEC	22797	broad.mit.edu	37	chr7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-													cactgaggttgtggttgtccTttttttgtctctcttttgct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:115594656_115594656CT>C	uc003vhj.2	-	4	676	c.423_423AG>G	c.(421-423)aagfs	p.K141fs	TFEC_uc003vhm.2_Frame_Shift_Del_p.K74fs|TFEC_uc003vhk.2_Frame_Shift_Del_p.K112fs|TFEC_uc003vhl.4_Frame_Shift_Del_p.K112fs|TFEC_uc011kmw.2_Frame_Shift_Del_p.K231fs	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGTGGTTGTCCTTTTTTTGTC	0.333													-	115594657	T	-	115594657	7	5	265	1	0	1	0	1	0	0	0	0	15799	1609	56	0	637	0	TFEC	7	115594657	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	4226041	115594657	43544006	351	131640											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651137	121651137	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagactaattacacTgagatacgtgttgatgaatc	7	8	1	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:121651137T>C	uc003vjy.2	+	12	2432	c.2037T>C	c.(2035-2037)ACT>ACC	p.T679T	PTPRZ1_uc003vjz.2_Silent_p.T679T|PTPRZ1_uc011knt.1_Silent_p.T129T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	679	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CTAATTACACTGAGATACGTG	0.468													C	121651137	T	C	121651137	2	2	265	1	0	0	0	0	0	0	0	1	12814	1567	55	3		3	PTPRZ1	7	121651137	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	6056480	121651137	37487526	352	131641											
FAM40B	57464	broad.mit.edu	37	chr7	129096402	129096402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgcgtgctgcctccccGccctcttacactcttgacct	7	18	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:129096402G>A	uc011koy.1	+	9	997	c.957G>A	c.(955-957)CCG>CCA	p.P319P	FAM40B_uc003vow.2_Silent_p.P319P|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	319											0						CTGCCTCCCCGCCCTCTTACA	0.597													A	129096402	G	A	129096402	2	1	265	1	0	0	0	0	0	0	0	1	5561	1074	38	1		1	FAM40B	7	129096402	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7445265	129096402	30042261	353	131642											
CPA4	51200	broad.mit.edu	37	chr7	129950720	129950720	+	Frame_Shift_Del	DEL	A	A	-													atcagtggtagatttcatccAaaaacatgggaatttcaagg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:129950719_129950719CA>C	uc003vpr.3	+	8	933	c.886_886CA>C	c.(886-888)caafs	p.Q296fs	CPA4_uc011kpd.2_Frame_Shift_Del_p.Q263fs|CPA4_uc011kpe.2_Frame_Shift_Del_p.Q192fs	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	296					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.Q296K(2)		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)					AGATTTCATCCAAAAACATGG	0.517													-	129950720	A	-	129950720	7	5	265	1	0	1	0	1	0	0	0	0	3792	130	5	0	921	0	CPA4	7	129950720	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	854318	129950720	29187943	354	131643											
C7orf49	78996	broad.mit.edu	37	chr7	134851386	134851386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaaaagatctcccggaCgtatttcagcacatcctctt	7	12	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:134851386C>T	uc003vsl.2	-	4	718	c.451G>A	c.(451-453)GTC>ATC	p.V151I	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Missense_Mutation_p.V122I|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.V150I|C7orf49_uc003vso.2_Missense_Mutation_p.V96I	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	151						cytoplasm				large_intestine(1)|ovary(1)	2						ATCTCCCGGACGTATTTCAGC	0.607													T	134851386	C	T	134851386	3	4	265	1	0	0	0	0	1	0	0	0	2398	536	19	1	26	1	C7orf49	7	134851386	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4900666	134851386	24287277	355	131644											
NUP205	23165	broad.mit.edu	37	chr7	135322803	135322803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagattgaactggctatgcAgcaggtaagaaccatgtgac	12	7	0	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:135322803A>G	uc003vsw.2	+	37	5292	c.5261A>G	c.(5260-5262)CAG>CGG	p.Q1754R	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1754					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CTGGCTATGCAGCAGGTAAGA	0.328													G	135322803	A	G	135322803	3	3	265	1	0	0	0	0	1	0	0	0	10759	188	7	3	5407	3	NUP205	7	135322803	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	471417	135322803	23815860	356	131645											
BRAF	673	broad.mit.edu	37	chr7	140476719	140476719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatggaacttactccatgcCctgtgcagtctgtcgtgcaa	10	11	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:140476719C>A	uc003vwc.3	-	13	1748	c.1687G>T	c.(1687-1689)GGC>TGC	p.G563C		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	563	Protein kinase.				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		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TACTCCATGCCCTGTGCAGTC	0.388		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				A	140476719	C	A	140476719	3	1	265	1	0	0	0	0	1	0	0	0	1496	623	22	5	637	5	BRAF	7	140476719	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5153916	140476719	18661944	357	131646											
TRPV6	55503	broad.mit.edu	37	chr7	142571332	142571332	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgatgctgtacatgaAgggcaggtccacgttgtagt	14	6	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:142571332A>C	uc003wbx.1	-	13	1873	c.1657T>G	c.(1657-1659)TTC>GTC	p.F553V	TRPV6_uc003wbw.1_Missense_Mutation_p.F339V|TRPV6_uc010lou.1_Missense_Mutation_p.F424V	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	553					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CTGTACATGAAGGGCAGGTCC	0.562													C	142571332	A	C	142571332	3	2	265	1	0	0	0	0	1	0	0	0	16597	72	3	5	532	5	TRPV6	7	142571332	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2094613	142571332	16567331	358	131647											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884068	143884068	+	Frame_Shift_Del	DEL	A	A	-													tgtcaggtgactcctcagtcAaaaaggagcccagtagagaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:143884068delA	uc003wdz.1	-	2	1527	c.1409delT	c.(1408-1410)TTGfs	p.L470fs		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	470											0						CTCCTCAGTCAAAAAGGAGCC	0.373													-	143884068	A	-	143884068	7	5	265	1	0	1	0	1	0	0	0	0	905	131	5	0	49	0	ARHGEF35	7	143884068	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1312736	143884068	15254595	359	131648											
SSPO	23145	broad.mit.edu	37	chr7	149499038	149499038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggctcggacgaggatgGctgtggtatgtgccagccag	18	8	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:149499038G>T	uc010lpk.2	+	51	7490	c.7490G>T	c.(7489-7491)GGC>GTC	p.G2497V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2497	LDL-receptor class A 10.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACGAGGATGGCTGTGGTATG	0.692													T	149499038	G	T	149499038	3	4	265	1	0	0	0	0	1	0	0	0	15188	1203	42	5	7684	5	SSPO	7	149499038	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5614970	149499038	9639625	360	131649											
ZNF862	643641	broad.mit.edu	37	chr7	149557637	149557637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaggacatacaggccccGttccattcagaggtcatggt	11	11	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:149557637G>A	uc010lpn.2	+	7	1580	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	463	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TACAGGCCCCGTTCCATTCAG	0.527													A	149557637	G	A	149557637	3	1	265	1	0	0	0	0	1	0	0	0	18192	1145	40	1	1414	1	ZNF862	7	149557637	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	58599	149557637	9581026	361	131650											
ACCN3	9311	broad.mit.edu	37	chr7	150749150	150749150	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctagactacctctgtgagGtgggccagggcccccactgc	12	15	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:150749150G>C	uc003win.2	+	8	1754	c.1386_splice	c.e8+1	p.E462_splice	ACCN3_uc003wio.2_Splice_Site_p.E462_splice|ACCN3_uc003wip.2_Splice_Site_p.E462_splice|ACCN3_uc003wiq.2_Splice_Site	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a						sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCTGTGAGGTGGGCCAGGG	0.652													C	150749150	G	C	150749150	5	2	265	1	0	0	0	0	0	0	1	0	130	1275	44	5	1417	5	ACCN3	7	150749150	Splice_Site	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1191513	150749150	8389513	362	131651											
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	265	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1087729	151836879	7301784	363	131652											
MLL3	58508	broad.mit.edu	37	chr7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-													caaagcatagttttgtccttAaaaaacatgcattgtgcttt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:151845524delA	uc003wla.2	-	52	13707	c.13488delT	c.(13486-13488)TTTfs	p.F4496fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.F3614fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.F654fs|MLL3_uc003wky.2_Frame_Shift_Del_p.F2060fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4496					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTTTGTCCTTAAAAAACATGC	0.433			N		medulloblastoma								-	151845524	A	-	151845524	7	5	265	1	0	1	0	1	0	0	0	0	9622	359	13	0	1279	0	MLL3	7	151845524	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	8645	151845524	7293139	364	131653											
RBM33	155435	broad.mit.edu	37	chr7	155493520	155493520	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagaagaatcagatgaAgaagaagaagatgatgaaga	11	2	2	11			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:155493520A>T	uc010lqk.1	+	6	989	c.621A>T	c.(619-621)GAA>GAT	p.E207D	RBM33_uc003wme.2_Missense_Mutation_p.E207D|RBM33_uc011kvv.1_Missense_Mutation_p.E16D	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	207	Glu-rich.						nucleotide binding|RNA binding			ovary(1)	1	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)		aatcagatgaagaagaagaag	0.299													T	155493520	A	T	155493520	3	4	265	1	0	0	0	0	1	0	0	0	13130	69	3	5	643	5	RBM33	7	155493520	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3647996	155493520	3645143	365	131654											
FBXO25	26260	broad.mit.edu	37	chr8	413102	413102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccagcgaaggagcagtaCggagacacactgcatttctg	11	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:413102C>T	uc003wox.2	+	9	1205	c.939C>T	c.(937-939)TAC>TAT	p.Y313Y	FBXO25_uc003woy.2_Silent_p.Y313Y|FBXO25_uc003woz.2_Silent_p.Y246Y|FBXO25_uc003wpa.2_Silent_p.Y96Y	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	313						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		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)		AGGAGCAGTACGGAGACACAC	0.383													T	413102	C	T	413102	2	4	265	1	0	0	0	0	0	0	0	1	5736	547	19	1		1	FBXO25	8	413102	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		413102	145950920	366	131655											
CSMD1	64478	broad.mit.edu	37	chr8	3141799	3141799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttcagcaggatgtcactGtccaccggcccgtcccagac	9	17	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:3141799G>T	uc011kwk.1	-	26	4413	c.4023C>A	c.(4021-4023)GAC>GAA	p.D1341E	CSMD1_uc011kwj.1_Missense_Mutation_p.D733E|CSMD1_uc003wqe.2_Missense_Mutation_p.D497E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1341	Extracellular (Potential).|CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATGTCACTGTCCACCGGCC	0.562											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3141799	G	T	3141799	3	4	265	1	0	0	0	0	1	0	0	0	3944	1368	48	5	6854	5	CSMD1	8	3141799	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2728697	3141799	143222223	367	131656											
SGK223	157285	broad.mit.edu	37	chr8	8233764	8233764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacaatggtactcaccGcgactttggaggcggaggag	16	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:8233764G>A	uc003wsh.3	-	2	2155	c.2155C>T	c.(2155-2157)CGG>TGG	p.R719W		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	719							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGTACTCACCGCGACTTTGGA	0.552													A	8233764	G	A	8233764	3	1	265	1	0	0	0	0	1	0	0	0	14210	1101	38	1	2069	1	SGK223	8	8233764	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5091965	8233764	138130258	368	131657											
RP1L1	94137	broad.mit.edu	37	chr8	10470587	10470587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccctgcccatcctccGggaccataggagcgtgtcct	12	16	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:10470587G>A	uc003wtc.2	-	4	1250	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	341					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCCATCCTCCGGGACCATAGG	0.637													A	10470587	G	A	10470587	3	1	265	1	0	0	0	0	1	0	0	0	13533	1115	39	1	6185	1	RP1L1	8	10470587	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2236823	10470587	135893435	369	131658											
SOX7	83595	broad.mit.edu	37	chr8	10683722	10683722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggacttttcctcaaggcTaaaagatttcttttccttct	5	9	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:10683722T>C	uc011kwz.1	-	5	367	c.334A>G	c.(334-336)AGC>GGC	p.S112G	PINX1_uc003wth.2_Missense_Mutation_p.S112G|PINX1_uc003wti.2_Missense_Mutation_p.S112G|MIR1322_hsa-mir-1322|MI0006653_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)	1				COAD - Colon adenocarcinoma(149;0.0732)		TCCTCAAGGCTAAAAGATTTC	0.303													C	10683722	T	C	10683722	3	2	265	1	0	0	0	0	1	0	0	0	14956	1522	53	3		3	SOX7	8	10683722	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	213135	10683722	135680300	370	131659											
DLC1	10395	broad.mit.edu	37	chr8	12957761	12957761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttgcaagatgggcccGctgatgatcaaccccagctt	9	15	2	3	rs148579135		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:12957761G>A	uc003wwm.2	-	9	2529	c.2085C>T	c.(2083-2085)AGC>AGT	p.S695S	DLC1_uc003wwk.1_Silent_p.S258S|DLC1_uc003wwl.1_Silent_p.S292S|DLC1_uc011kxx.1_Silent_p.S184S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	695					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGATGGGCCCGCTGATGATCA	0.577													A	12957761	G	A	12957761	2	1	265	1	0	0	0	0	0	0	0	1	4550	1078	38	1		1	DLC1	8	12957761	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2274039	12957761	133406261	371	131660											
SLC7A2	6542	broad.mit.edu	37	chr8	17417858	17417858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcctggcttatcttaCgaccagcccaaatgttctcc	6	15	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:17417858C>T	uc011kyc.1	+	9	1489	c.1320C>T	c.(1318-1320)TAC>TAT	p.Y440Y	SLC7A2_uc011kyd.1_Silent_p.Y479Y|SLC7A2_uc011kye.1_Silent_p.Y480Y|SLC7A2_uc011kyf.1_Silent_p.Y440Y	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	440	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTTATCTTACGACCAGCCCA	0.473													T	17417858	C	T	17417858	2	4	265	1	0	0	0	0	0	0	0	1	14697	547	19	1		1	SLC7A2	8	17417858	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4460097	17417858	128946164	372	131661											
NAT2	10	broad.mit.edu	37	chr8	18257855	18257855	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctgcaggtgaccatTgacggcaggaattacattgt	10	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:18257855T>C	uc003wyw.1	+	2	449	c.342T>C	c.(340-342)ATT>ATC	p.I114I		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	114					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGGTGACCATTGACGGCAGGA	0.483									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				C	18257855	T	C	18257855	2	2	265	1	0	0	0	0	0	0	0	1	10177	1800	63	3		3	NAT2	8	18257855	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	839997	18257855	128106167	373	131662											
NPM2	10361	broad.mit.edu	37	chr8	21883281	21883281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcctcagtcctccccAtggtgcgcatttccctgctg	9	17	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:21883281A>G	uc003xab.2	+	4	926	c.268A>G	c.(268-270)ATG>GTG	p.M90V	NPM2_uc003xac.2_Missense_Mutation_p.M90V|NPM2_uc003xad.2_Missense_Mutation_p.M90V|NPM2_uc003xae.2_Missense_Mutation_p.M90V|NPM2_uc003xaf.2_Missense_Mutation_p.M90V	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	nucleoplasmin 2	90					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGTCCTCCCCATGGTGCGCAT	0.592													G	21883281	A	G	21883281	3	3	265	1	0	0	0	0	1	0	0	0	10588	217	8	3	278	3	NPM2	8	21883281	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3625426	21883281	124480741	374	131663											
C8orf58	541565	broad.mit.edu	37	chr8	22459825	22459825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctcccagggacacaaGgtaggggacaggtatatgtg	13	10	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:22459825G>A	uc003xce.2	+	5	991	c.879G>A	c.(877-879)AAG>AAA	p.K293K	C8orf58_uc011kzl.1_Silent_p.K293K|C8orf58_uc003xcf.2_Silent_p.K293K|KIAA1967_uc003xch.2_5'Flank|KIAA1967_uc003xci.2_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	293										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGGGACACAAGGTAGGGGACA	0.647													A	22459825	G	A	22459825	2	1	265	1	0	0	0	0	0	0	0	1	2433	1014	35	4		4	C8orf58	8	22459825	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	576544	22459825	123904197	375	131664											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22974326	22974326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacaatgaacaccagcccgGggactcctgccccagctgct	10	16	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:22974326G>T	uc003xcy.2	+	5	763	c.562G>T	c.(562-564)GGG>TGG	p.G188W	TNFRSF10C_uc011kzr.1_RNA	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	188	TAPE 2.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CACCAGCCCGGGGACTCCTGC	0.622													T	22974326	G	T	22974326	3	4	265	1	0	0	0	0	1	0	0	0	16279	1232	43	5	580	5	TNFRSF10C	8	22974326	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	514501	22974326	123389696	376	131665											
STC1	6781	broad.mit.edu	37	chr8	23709860	23709860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgcaaaagccccgcagccGacctgtagagcactgttgag	11	13	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:23709860G>A	uc003xdw.1	-	2	440	c.156C>T	c.(154-156)GTC>GTT	p.V52V		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	52					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCCCGCAGCCGACCTGTAGAG	0.488													A	23709860	G	A	23709860	2	1	265	1	0	0	0	0	0	0	0	1	15274	1045	37	1		1	STC1	8	23709860	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	735534	23709860	122654162	377	131666											
ADAM28	10863	broad.mit.edu	37	chr8	24188783	24188784	+	Frame_Shift_Ins	INS	-	-	A													cagatatcatatccactccaINSatttgtgggaaccagttggt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:24188782_24188783C>CA	uc003xdy.3	+	11	1306_1307	c.1223_1224C>CA	c.(1222-1224)ccafs	p.P408fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.P408fs|ADAM28_uc011kzz.2_Frame_Shift_Ins_p.P175fs|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Frame_Shift_Ins_p.P95fs	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	408	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)		ATATCCACTCCAATTTGTGGGA	0.411													A	24188784	-	A	24188783	7	5	265	1	0	1	1	0	0	0	0	0	246	117	5	0	1270	0	ADAM28	8	24188783	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	478923	24188783	122175239	378	131667											
ADAM7	8756	broad.mit.edu	37	chr8	24350675	24350675	+	Frame_Shift_Del	DEL	T	T	-													tactgtcaaatgcaaaactaTttttttataccatgattcta							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:24350674_24350674AT>A	uc003xeb.3	+	15	1887	c.1774_1774AT>A	c.(1774-1776)attfs	p.I592fs	ADAM7_uc003xec.3_Frame_Shift_Del_p.I364fs	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	592	Cys-rich.				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)		ATGCAAAACTATTTTTTTATA	0.418													-	24350675	T	-	24350675	7	5	265	1	0	1	0	1	0	0	0	0	251	1493	52	0	1837	0	ADAM7	8	24350675	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	161892	24350675	122013347	379	131668											
EXTL3	2137	broad.mit.edu	37	chr8	28574480	28574480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatggtggcccagtccAccttctacactgtccagtac	9	15	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:28574480A>G	uc003xgz.1	+	3	1497	c.904A>G	c.(904-906)ACC>GCC	p.T302A		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	302	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCCCAGTCCACCTTCTACAC	0.512													G	28574480	A	G	28574480	3	3	265	1	0	0	0	0	1	0	0	0	5327	159	6	3	906	3	EXTL3	8	28574480	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	4223805	28574480	117789542	380	131669											
NRG1	3084	broad.mit.edu	37	chr8	32621538	32621538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtaacagcctccctgCtagccccttgaggatagtgg	11	12	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:32621538C>T	uc003xiv.2	+	12	2058	c.1541C>T	c.(1540-1542)GCT>GTT	p.A514V	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.A519V|NRG1_uc003xiw.2_Missense_Mutation_p.A511V|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.A256V|NRG1_uc010lvs.2_Missense_Mutation_p.A256V|NRG1_uc010lvp.2_Missense_Mutation_p.A468V|NRG1_uc010lvq.2_Missense_Mutation_p.A451V|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.A357V|NRG1_uc003xja.2_Missense_Mutation_p.A325V	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	514	Cytoplasmic (Potential).				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|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|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGCCTCCCTGCTAGCCCCTTG	0.572													T	32621538	C	T	32621538	3	4	265	1	0	0	0	0	1	0	0	0	10647	797	28	2	3312	2	NRG1	8	32621538	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4047058	32621538	113742484	381	131670											
MAK16	84549	broad.mit.edu	37	chr8	33346315	33346315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcggcgtctctgggaacGggtaagccttacaacaaaac	10	12	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:33346315G>A	uc003xjj.2	+	4	279	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	80						nucleolus				ovary(1)	1						CTCTGGGAACGGGTAAGCCTT	0.428													A	33346315	G	A	33346315	3	1	265	1	0	0	0	0	1	0	0	0	9198	1130	39	1	253	1	MAK16	8	33346315	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	724777	33346315	113017707	382	131671											
BAG4	9530	broad.mit.edu	37	chr8	38034594	38034594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagaaggcggaggaggCgatggctactatccctcggg	18	9	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:38034594C>T	uc003xky.1	+	1	489	c.207C>T	c.(205-207)GGC>GGT	p.G69G	LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Silent_p.G69G	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	69					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GCGGAGGAGGCGATGGCTACT	0.677													T	38034594	C	T	38034594	2	4	265	1	0	0	0	0	0	0	0	1	1289	755	27	1		1	BAG4	8	38034594	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4688279	38034594	108329428	383	131672											
ADAM9	8754	broad.mit.edu	37	chr8	38873652	38873652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttagaatcattgtcattatCggggctatgtggagggagtt	13	4	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:38873652C>T	uc003xmr.2	+	5	427	c.349C>T	c.(349-351)CGG>TGG	p.R117W	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	117	Extracellular (Potential).			Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|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|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			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTGTCATTATCGGGGCTATGT	0.338													T	38873652	C	T	38873652	3	4	265	1	0	0	0	0	1	0	0	0	253	875	31	1	367	1	ADAM9	8	38873652	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	839058	38873652	107490370	384	131673											
MYST3	7994	broad.mit.edu	37	chr8	41794882	41794882	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacgacggaagtattctcTagggaaaagttcattttcat	8	7	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:41794882T>G	uc010lxb.2	-	17	3788	c.3244A>C	c.(3244-3246)AGA>CGA	p.R1082R	MYST3_uc010lxc.2_Silent_p.R1082R|MYST3_uc003xon.3_Silent_p.R1082R	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1082					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AAGTATTCTCTAGGGAAAAGT	0.428													G	41794882	T	G	41794882	2	3	265	1	0	0	0	0	0	0	0	1	10104	1530	53	5		5	MYST3	8	41794882	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2921230	41794882	104569140	385	131674											
AP3M2	10947	broad.mit.edu	37	chr8	42012282	42012282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaagtgtggtcagccGttctgtttgtgattactttt	11	5	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:42012282G>A	uc003xop.2	+	3	368	c.77G>A	c.(76-78)CGT>CAT	p.R26H	AP3M2_uc003xoo.2_Missense_Mutation_p.R26H|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.R26H	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	26					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GTGGTCAGCCGTTCTGTTTGT	0.453													A	42012282	G	A	42012282	3	1	265	1	0	0	0	0	1	0	0	0	748	1145	40	1	79	1	AP3M2	8	42012282	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	217400	42012282	104351740	386	131675											
SOX17	64321	broad.mit.edu	37	chr8	55371735	55371735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtaccggccgcggcggcGcaagcaggtgaagcggctga	17	12	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:55371735G>A	uc003xsb.3	+	2	629	c.425G>A	c.(424-426)CGC>CAC	p.R142H		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	142					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCGCGGCGGCGCAAGCAGGTG	0.741													A	55371735	G	A	55371735	3	1	265	1	0	0	0	0	1	0	0	0	14947	1087	38	1	431	1	SOX17	8	55371735	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	13359453	55371735	90992287	387	131676											
SOX17	64321	broad.mit.edu	37	chr8	55372288	55372288	+	Frame_Shift_Del	DEL	C	C	-													cagcaccagcaccagcaccaCcccccgggccccggacagcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:55372288delC	uc003xsb.3	+	2	1182	c.978delC	c.(976-978)CACfs	p.H326fs		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	326	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			accagcaccaCCCCCCGGGCC	0.532													-	55372288	C	-	55372288	7	5	265	1	0	1	0	1	0	0	0	0	14947	506	18	0	984	0	SOX17	8	55372288	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	553	55372288	90991734	388	131677											
NSMAF	8439	broad.mit.edu	37	chr8	59510450	59510450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacacctccttcataggtcaGgggatgaaatactgaaaaag	9	8	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:59510450G>T	uc003xtt.2	-	20	1811	c.1597C>A	c.(1597-1599)CTG>ATG	p.L533M	NSMAF_uc011lee.1_Missense_Mutation_p.L564M	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	533	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TCATAGGTCAGGGGATGAAAT	0.299													T	59510450	G	T	59510450	3	4	265	1	0	0	0	0	1	0	0	0	10674	991	35	5	1204	5	NSMAF	8	59510450	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4138162	59510450	86853572	389	131678											
TOX	9760	broad.mit.edu	37	chr8	59764296	59764296	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcaggctggcccctTggtctcatggctgccatctg	12	13	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:59764296T>C	uc003xtw.1	-	4	701	c.480A>G	c.(478-480)CCA>CCG	p.P160P		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	160						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		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)				GCTGGCCCCTTGGTCTCATGG	0.448													C	59764296	T	C	59764296	2	2	265	1	0	0	0	0	0	0	0	1	16374	1799	63	3		3	TOX	8	59764296	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	253846	59764296	86599726	390	131679											
ASPH	444	broad.mit.edu	37	chr8	62559385	62559387	+	In_Frame_Del	DEL	TTG	TTG	-													ataagaaactcatcatcctcTtgttgtggttctcctgtggg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:62559384_62559386CTTG>C	uc003xuj.3	-	5	811_813	c.542_544CAAG>G	c.(541-546)caagag>cGag	p.181_182QE>R	ASPH_uc011leg.2_In_Frame_Del_p.152_153QE>R|ASPH_uc003xuo.2_In_Frame_Del_p.181_182QE>R|ASPH_uc003xul.3_In_Frame_Del_p.167_168QE>R|ASPH_uc011lei.2_In_Frame_Del_p.167_168QE>R|ASPH_uc011lej.2_Intron|ASPH_uc011leh.2_In_Frame_Del_p.167_168QE>R|ASPH_uc003xum.3_In_Frame_Del_p.181_182QE>R|ASPH_uc003xun.3_Intron|ASPH_uc011lek.2_In_Frame_Del_p.181_182QE>R	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	181	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)	TCATCATCCTCTTGTTGTGGTTC	0.404													-	62559387	TTG	-	62559385	7	5	265	1	0	1	0	1	0	0	0	0	1053	1606	56	0	1825	0	ASPH	8	62559385	In_Frame_Del	DEL	TTG	TCGA-HU-A4G9-01A-11D-A24D-08	2795089	62559385	83804637	391	131680											
SULF1	23213	broad.mit.edu	37	chr8	70488321	70488321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtcctccatgctcaccGggaagtatgtgcacaatcac	9	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:70488321G>A	uc010lza.1	+	6	1006	c.289G>A	c.(289-291)GGG>AGG	p.G97R	SULF1_uc003xyd.2_Missense_Mutation_p.G97R|SULF1_uc003xye.2_Missense_Mutation_p.G97R|SULF1_uc003xyf.2_Missense_Mutation_p.G97R|SULF1_uc003xyg.2_Missense_Mutation_p.G97R	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	97					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CATGCTCACCGGGAAGTATGT	0.517													A	70488321	G	A	70488321	3	1	265	1	0	0	0	0	1	0	0	0	15369	1116	39	1	295	1	SULF1	8	70488321	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7928936	70488321	75875701	392	131681											
SULF1	23213	broad.mit.edu	37	chr8	70488373	70488373	+	Frame_Shift_Del	DEL	C	C	-													caacaacgagaactgctcttCcccctcgtggcaggccatgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:70488372_70488372TC>T	uc003xyg.2	+	4	901	c.340_340TC>T	c.(340-342)tccfs	p.S114fs	SULF1_uc010lza.1_Frame_Shift_Del_p.S114fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.S114fs|SULF1_uc003xye.2_Frame_Shift_Del_p.S114fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.S114fs	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	114					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	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)			GAACTGCTCTTCCCCCTCGTG	0.512													-	70488373	C	-	70488373	7	5	265	1	0	1	0	1	0	0	0	0	15369	855	30	0	347	0	SULF1	8	70488373	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	52	70488373	75875649	393	131682											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585215	70585215	+	Frame_Shift_Del	DEL	T	T	-													tgtgctgcgcactggatcccTttttgcaggccagtctcttc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:70585214_70585214CT>C	uc003xyl.3	-	9	3144	c.2437_2437AG>G	c.(2437-2439)gggfs	p.G813fs	SLCO5A1_uc010lzb.3_Frame_Shift_Del_p.G758fs|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	813						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)			CACTGGATCCCTTTTTGCAGG	0.612													-	70585215	T	-	70585215	7	5	265	1	0	1	0	1	0	0	0	0	14731	1606	56	0	114	0	SLCO5A1	8	70585215	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	96842	70585215	75778807	394	131683											
ZFHX4	79776	broad.mit.edu	37	chr8	77766597	77766597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgcaaatttccatgacGtctctccagaacagtctacc	5	15	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:77766597G>A	uc003yav.2	+	10	7692	c.7305G>A	c.(7303-7305)ACG>ACA	p.T2435T	ZFHX4_uc003yau.1_Silent_p.T2480T|ZFHX4_uc003yaw.1_Silent_p.T2435T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTCCATGACGTCTCTCCAGA	0.458										HNSCC(33;0.089)			A	77766597	G	A	77766597	2	1	265	1	0	0	0	0	0	0	0	1	17632	1132	40	1		1	ZFHX4	8	77766597	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7181382	77766597	68597425	395	131684											
ZNF704	619279	broad.mit.edu	37	chr8	81553607	81553607	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctgggggtctctcagtcGaggaacctctggcaggcctt	14	12	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:81553607G>A	uc003yby.1	-	9	1465	c.1233C>T	c.(1231-1233)CTC>CTT	p.L411L		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	411						intracellular	zinc ion binding				0	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)			TCTCTCAGTCGAGGAACCTCT	0.602													A	81553607	G	A	81553607	2	1	265	1	0	0	0	0	0	0	0	1	18104	1045	37	1		1	ZNF704	8	81553607	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3787010	81553607	64810415	396	131685											
CA3	761	broad.mit.edu	37	chr8	86354335	86354335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctctccctggaccctaccGacttcgccagtttcatcttc	5	18	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:86354335G>A	uc003ydj.2	+	3	349	c.266G>A	c.(265-267)CGA>CAA	p.R89Q	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	89					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						GGACCCTACCGACTTCGCCAG	0.507													A	86354335	G	A	86354335	3	1	265	1	0	0	0	0	1	0	0	0	2517	1058	37	1	276	1	CA3	8	86354335	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4800728	86354335	60009687	397	131686											
PSKH2	85481	broad.mit.edu	37	chr8	87060713	87060713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaagcgcagacagtggcGattctactatccttaagttt	8	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:87060713G>A	uc011lfy.1	-	3	1136	c.1136C>T	c.(1135-1137)TCG>TTG	p.S379L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	379							ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			AGACAGTGGCGATTCTACTAT	0.433													A	87060713	G	A	87060713	3	1	265	1	0	0	0	0	1	0	0	0	12665	1059	37	1	23	1	PSKH2	8	87060713	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	706378	87060713	59303309	398	131687											
PSKH2	85481	broad.mit.edu	37	chr8	87076599	87076599	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaaaggatccctgagcaatGagtcgatcaaagagctcccc	10	11	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:87076599G>T	uc011lfy.1	-	2	447	c.447C>A	c.(445-447)CTC>CTA	p.L149L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	149	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			CCTGAGCAATGAGTCGATCAA	0.498													T	87076599	G	T	87076599	2	4	265	1	0	0	0	0	0	0	0	1	12665	1277	45	5		5	PSKH2	8	87076599	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	15886	87076599	59287423	399	131688											
RBM12B	389677	broad.mit.edu	37	chr8	94745759	94745759	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaggtaagccttgctcAttatactgtatcgaaactga	8	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:94745759A>G	uc003yfz.2	-	3	3073	c.2880T>C	c.(2878-2880)AAT>AAC	p.N960N		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	960	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGCCTTGCTCATTATACTGTA	0.358													G	94745759	A	G	94745759	2	3	265	1	0	0	0	0	0	0	0	1	13114	214	8	3		3	RBM12B	8	94745759	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	7669160	94745759	51618263	400	131689											
YWHAZ	7534	broad.mit.edu	37	chr8	101960825	101960825	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgaattgattctcaccAgtacatcattgcagatatct	6	9	3	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:101960825A>G	uc011lhe.1	-	2	470	c.293T>C	c.(292-294)CTG>CCG	p.L98P	YWHAZ_uc003yjv.2_Missense_Mutation_p.L98P|YWHAZ_uc011lhf.1_Missense_Mutation_p.L98P|YWHAZ_uc003yjw.2_Missense_Mutation_p.L98P|YWHAZ_uc010mbq.2_Missense_Mutation_p.L21P|YWHAZ_uc011lhg.1_Intron|YWHAZ_uc010mbr.2_Missense_Mutation_p.L98P|YWHAZ_uc003yjx.2_Missense_Mutation_p.L98P|YWHAZ_uc003yjy.2_Missense_Mutation_p.L98P	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	98					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	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)	GATTCTCACCAGTACATCATT	0.378													G	101960825	A	G	101960825	3	3	265	1	0	0	0	0	1	0	0	0	17503	202	7	3	464	3	YWHAZ	8	101960825	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	7215066	101960825	44403197	401	131690											
FZD6	8323	broad.mit.edu	37	chr8	104342230	104342230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccatctccagactctctgGggaacaggtcgacgggaagg	13	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:104342230G>T	uc003ylh.2	+	6	2173	c.1889G>T	c.(1888-1890)GGG>GTG	p.G630V	FZD6_uc003ylj.2_Missense_Mutation_p.G630V|FZD6_uc011lhn.1_Missense_Mutation_p.G596V|FZD6_uc011lho.1_Missense_Mutation_p.G325V|FZD6_uc011lhp.1_Missense_Mutation_p.G575V	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	630	Cytoplasmic (Potential).				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)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGACTCTCTGGGGAACAGGTC	0.517													T	104342230	G	T	104342230	3	4	265	1	0	0	0	0	1	0	0	0	6134	1232	43	5	1907	5	FZD6	8	104342230	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2381405	104342230	42021792	402	131691											
DPYS	1807	broad.mit.edu	37	chr8	105405032	105405032	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtctcgctgctttattcGtttgtaaatatattcagcaa	7	9	2	0	rs61758444		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:105405032G>A	uc003yly.3	-	8	1552	c.1423C>T	c.(1423-1425)CGA>TGA	p.R475*	DPYS_uc010mcf.1_Nonsense_Mutation_p.R45*	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCTTTATTCGTTTGTAAATA	0.473													A	105405032	G	A	105405032	4	1	265	1	0	0	0	0	0	1	0	0	4746	1153	40	1	144	1	DPYS	8	105405032	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1062802	105405032	40958990	403	131692											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477051	110477051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggagctgaatgggtcAatggaggtgcccttcagttc	13	7	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:110477051A>G	uc003yne.2	+	49	8094	c.7990A>G	c.(7990-7992)AAT>GAT	p.N2664D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2664	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAATGGGTCAATGGAGGTGC	0.453										HNSCC(38;0.096)			G	110477051	A	G	110477051	3	3	265	1	0	0	0	0	1	0	0	0	11972	130	5	3	8184	3	PKHD1L1	8	110477051	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	5072019	110477051	35886971	404	131693											
CSMD3	114788	broad.mit.edu	37	chr8	113277738	113277738	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcctggctggcacatgTaagaaacattttgtccaacc	9	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:113277738T>A	uc003ynu.2	-	60	9749	c.9590A>T	c.(9589-9591)TAC>TTC	p.Y3197F	CSMD3_uc003yns.2_Missense_Mutation_p.Y2399F|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3157F|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3028F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3197	Extracellular (Potential).|Sushi 24.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTGGCACATGTAAGAAACATT	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113277738	T	A	113277738	3	1	265	1	0	0	0	0	1	0	0	0	3946	1638	57	5	1581	5	CSMD3	8	113277738	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2800687	113277738	33086284	405	131694											
CSMD3	114788	broad.mit.edu	37	chr8	113301691	113301691	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgtgcaggaatagtgAacagtagacccaaaagtata	9	7	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:113301691A>G	uc003ynu.2	-	57	9210	c.9051T>C	c.(9049-9051)GTT>GTC	p.V3017V	CSMD3_uc003yns.2_Silent_p.V2219V|CSMD3_uc003ynt.2_Silent_p.V2977V|CSMD3_uc011lhx.1_Silent_p.V2848V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3017	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGAATAGTGAACAGTAGACC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113301691	A	G	113301691	2	3	265	1	0	0	0	0	0	0	0	1	3946	233	9	3		3	CSMD3	8	113301691	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	23953	113301691	33062331	406	131695											
CSMD3	114788	broad.mit.edu	37	chr8	113694730	113694730	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccataagaatacatgtaAttgtttctgttccctgggtt	7	8	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:113694730A>T	uc003ynu.2	-	16	2777	c.2618T>A	c.(2617-2619)ATT>AAT	p.I873N	CSMD3_uc003yns.2_Missense_Mutation_p.I145N|CSMD3_uc003ynt.2_Missense_Mutation_p.I833N|CSMD3_uc011lhx.1_Missense_Mutation_p.I769N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	873	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AATACATGTAATTGTTTCTGT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113694730	A	T	113694730	3	4	265	1	0	0	0	0	1	0	0	0	3946	101	4	5	8729	5	CSMD3	8	113694730	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	393039	113694730	32669292	407	131696											
TG	7038	broad.mit.edu	37	chr8	134034244	134034244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatacccacaggcccctaaCgcgtctgtgctggtgttctt	9	14	2	0	rs149348416		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:134034244C>T	uc003ytw.2	+	40	6926	c.6885C>T	c.(6883-6885)AAC>AAT	p.N2295N	TG_uc010mdw.2_Silent_p.N1054N|TG_uc011ljb.1_Silent_p.N664N|TG_uc011ljc.1_Silent_p.N428N	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2295					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		AGGCCCCTAACGCGTCTGTGC	0.557													T	134034244	C	T	134034244	2	4	265	1	0	0	0	0	0	0	0	1	15810	535	19	1		1	TG	8	134034244	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	20339514	134034244	12329778	408	131697											
COL22A1	169044	broad.mit.edu	37	chr8	139790595	139790595	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacaagtgccttcacttaCaggagctccgacacgtccag	9	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:139790595C>T	uc003yvd.2	-	15	2205	c.1758_splice	c.e15+1	p.P586_splice		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			CCTTCACTTACAGGAGCTCCG	0.527										HNSCC(7;0.00092)			T	139790595	C	T	139790595	5	4	265	1	0	0	0	0	0	0	1	0	3681	492	17	4	3325	4	COL22A1	8	139790595	Splice_Site	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5756351	139790595	6573427	409	131698											
SLC45A4	57210	broad.mit.edu	37	chr8	142222373	142222373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcttttcgctgttccCaccggccctgccttcgccgg	13	16	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:142222373C>T	uc003ywd.1	-	7	2379	c.2071G>A	c.(2071-2073)GGG>AGG	p.G691R	SLC45A4_uc003ywc.1_Missense_Mutation_p.G691R|SLC45A4_uc010meq.1_Missense_Mutation_p.G689R	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	742					transport	integral to membrane				ovary(2)	2	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)			TCGCTGTTCCCACCGGCCCTG	0.637													T	142222373	C	T	142222373	3	4	265	1	0	0	0	0	1	0	0	0	14643	594	21	4	333	4	SLC45A4	8	142222373	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2431778	142222373	4141649	410	131699											
SLC45A4	57210	broad.mit.edu	37	chr8	142228485	142228485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggcctgcctgcggaaCgcgtgccgccgccgccgcat	15	17	0	0	rs150882337		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:142228485C>T	uc003ywd.1	-	4	1409	c.1101G>A	c.(1099-1101)GCG>GCA	p.A367A	SLC45A4_uc003ywc.1_Silent_p.A367A|SLC45A4_uc010meq.1_Silent_p.A365A	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	418					transport	integral to membrane				ovary(2)	2	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)			GCCTGCGGAACGCGTGCCGCC	0.682													T	142228485	C	T	142228485	2	4	265	1	0	0	0	0	0	0	0	1	14643	523	19	1		1	SLC45A4	8	142228485	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6112	142228485	4135537	411	131700											
LY6E	4061	broad.mit.edu	37	chr8	144102851	144102851	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgctagtgccggcattgGtgagtgccaggcctcagacc	14	12	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144102851G>A	uc003yxn.2	+	3	326	c.172_splice	c.e3+1	p.G58_splice	LY6E_uc003yxm.2_Splice_Site_p.G58_splice|LY6E_uc003yxo.2_Splice_Site	NM_001127213	NP_001120685	Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E precursor						cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane					0	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCGGCATTGGTGAGTGCCAG	0.612													A	144102851	G	A	144102851	5	1	265	1	0	0	0	0	0	0	1	0	9091	1275	44	4	179	4	LY6E	8	144102851	Splice_Site	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1874366	144102851	2261171	412	131701											
RHPN1	114822	broad.mit.edu	37	chr8	144464012	144464012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgactacattgtgtcAgtgaatgggcagccatgcag	15	8	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144464012A>G	uc003yyb.2	+	14	1804	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	582	PDZ.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACATTGTGTCAGTGAATGGGC	0.662													G	144464012	A	G	144464012	2	3	265	1	0	0	0	0	0	0	0	1	13350	175	7	3		3	RHPN1	8	144464012	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	361161	144464012	1900010	413	131702											
EPPK1	83481	broad.mit.edu	37	chr8	144940074	144940081	+	Splice_Site	DEL	AAAAAAAC	AAAAAAAC	-													aaaattaaagaatgacaaaaAaaaaaacaaaaaaaaaacaa					rs6558397		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144940074_144940081delAAAAAAAC	uc003zaa.1	-	3	15358	c.15345_splice	c.e3-1			NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1							cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			aatgacaaaaaaaaaaacaaaaaaaaaa	0.351													-	144940081	AAAAAAAC	-	144940074	8	5	265	1	0	1	0	1	0	0	1	0	5190	29	1	0		0	EPPK1	8	144940074	Splice_Site	DEL	AAAAAAAC	TCGA-HU-A4G9-01A-11D-A24D-08	476062	144940074	1423948	414	131703											
PLEC	5339	broad.mit.edu	37	chr8	144991489	144991489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggacagctccaggtacGtctggtggtcaatcaggccc	13	13	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144991489G>A	uc003zaf.1	-	32	13081	c.12911C>T	c.(12910-12912)ACG>ATG	p.T4304M	PLEC_uc003zab.1_Missense_Mutation_p.T4167M|PLEC_uc003zac.1_Missense_Mutation_p.T4171M|PLEC_uc003zad.2_Missense_Mutation_p.T4167M|PLEC_uc003zae.1_Missense_Mutation_p.T4135M|PLEC_uc003zag.1_Missense_Mutation_p.T4145M|PLEC_uc003zah.2_Missense_Mutation_p.T4153M|PLEC_uc003zaj.2_Missense_Mutation_p.T4194M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4304	Globular 2.|Plectin 27.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTCCAGGTACGTCTGGTGGTC	0.637													A	144991489	G	A	144991489	3	1	265	1	0	0	0	0	1	0	0	0	12052	1145	40	1	1147	1	PLEC	8	144991489	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	51415	144991489	1372533	415	131704											
PLEC	5339	broad.mit.edu	37	chr8	144995573	144995573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgatctgggcctccaGcaggcggatgccgtgctccc	15	15	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144995573G>A	uc003zaf.1	-	32	8997	c.8827C>T	c.(8827-8829)CTG>TTG	p.L2943L	PLEC_uc003zab.1_Silent_p.L2806L|PLEC_uc003zac.1_Silent_p.L2810L|PLEC_uc003zad.2_Silent_p.L2806L|PLEC_uc003zae.1_Silent_p.L2774L|PLEC_uc003zag.1_Silent_p.L2784L|PLEC_uc003zah.2_Silent_p.L2792L|PLEC_uc003zaj.2_Silent_p.L2833L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2943	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGGGCCTCCAGCAGGCGGATG	0.667													A	144995573	G	A	144995573	2	1	265	1	0	0	0	0	0	0	0	1	12052	962	34	2		2	PLEC	8	144995573	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4084	144995573	1368449	416	131705											
PLEC	5339	broad.mit.edu	37	chr8	144996166	144996166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctctgagtgcgccagcGcggcccggtgctgctcctcc	12	19	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144996166G>A	uc003zaf.1	-	32	8404	c.8234C>T	c.(8233-8235)GCG>GTG	p.A2745V	PLEC_uc003zab.1_Missense_Mutation_p.A2608V|PLEC_uc003zac.1_Missense_Mutation_p.A2612V|PLEC_uc003zad.2_Missense_Mutation_p.A2608V|PLEC_uc003zae.1_Missense_Mutation_p.A2576V|PLEC_uc003zag.1_Missense_Mutation_p.A2586V|PLEC_uc003zah.2_Missense_Mutation_p.A2594V|PLEC_uc003zaj.2_Missense_Mutation_p.A2635V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2745	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTGCGCCAGCGCGGCCCGGTG	0.587													A	144996166	G	A	144996166	3	1	265	1	0	0	0	0	1	0	0	0	12052	1087	38	1	5824	1	PLEC	8	144996166	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	593	144996166	1367856	417	131706											
PLEC	5339	broad.mit.edu	37	chr8	144997128	144997128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcctcagccttgagtcgCgtggcctcctgcaccgcctg	11	18	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144997128C>T	uc003zaf.1	-	31	7550	c.7380G>A	c.(7378-7380)ACG>ACA	p.T2460T	PLEC_uc003zab.1_Silent_p.T2323T|PLEC_uc003zac.1_Silent_p.T2327T|PLEC_uc003zad.2_Silent_p.T2323T|PLEC_uc003zae.1_Silent_p.T2291T|PLEC_uc003zag.1_Silent_p.T2301T|PLEC_uc003zah.2_Silent_p.T2309T|PLEC_uc003zaj.2_Silent_p.T2350T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2460	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTTGAGTCGCGTGGCCTCCT	0.667													T	144997128	C	T	144997128	2	4	265	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144997128	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	962	144997128	1366894	418	131707											
SPATC1	375686	broad.mit.edu	37	chr8	145094872	145094872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgaagaagtggggatcAtggccttggcacccctggcc	13	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145094872A>C	uc011lkw.1	+	2	376	c.274A>C	c.(274-276)ATG>CTG	p.M92L	SPATC1_uc011lkx.1_Missense_Mutation_p.M92L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	92										ovary(1)|central_nervous_system(1)	2	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)			AGTGGGGATCATGGCCTTGGC	0.637													C	145094872	A	C	145094872	3	2	265	1	0	0	0	0	1	0	0	0	15016	217	8	5	280	5	SPATC1	8	145094872	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	97744	145094872	1269150	419	131708											
GPR172A	79581	broad.mit.edu	37	chr8	145583901	145583901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagagtcctcaccacTgcaagagccaccaagccagg	12	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145583901T>C	uc003zcc.1	+	3	906	c.749T>C	c.(748-750)CTG>CCG	p.L250P	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.L250P|GPR172A_uc003zce.1_Missense_Mutation_p.L250P|GPR172A_uc010mfy.1_Missense_Mutation_p.L250P|GPR172A_uc003zcf.1_Missense_Mutation_p.L250P|GPR172A_uc011llc.1_Missense_Mutation_p.L162P	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	250						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	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)			TCCTCACCACTGCAAGAGCCA	0.627													C	145583901	T	C	145583901	3	2	265	1	0	0	0	0	1	0	0	0	6669	1580	55	3	755	3	GPR172A	8	145583901	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	489029	145583901	780121	420	131709											
NFKBIL2	4796	broad.mit.edu	37	chr8	145657756	145657756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctaagtgcaggagggtgCcggcgggcaggctctgcagg	19	10	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145657756C>A	uc011llg.1	-	23	3662	c.3647G>T	c.(3646-3648)GGC>GTC	p.G1216V	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1216					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			CAGGAGGGTGCCGGCGGGCAG	0.662													A	145657756	C	A	145657756	3	1	265	1	0	0	0	0	1	0	0	0	10382	739	26	5	505	5	NFKBIL2	8	145657756	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	73855	145657756	706266	421	131710											
KIFC2	90990	broad.mit.edu	37	chr8	145692659	145692659	+	Frame_Shift_Del	DEL	G	G	-													ggcatggcttcgaagccccaGggggaggcaggccctgctcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145692658_145692658AG>A	uc003zcz.3	+	3	468	c.403_403AG>A	c.(403-405)aggfs	p.R135fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	135					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)			TCGAAGCCCCAGGGGGAGGCA	0.612											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	145692659	G	-	145692659	7	5	265	1	0	1	0	1	0	0	0	0	8313	1000	35	0	418	0	KIFC2	8	145692659	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	34903	145692659	671363	422	131711											
RECQL4	9401	broad.mit.edu	37	chr8	145742065	145742065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaaggaggggacaggCcctgtacctgggggctttgg	17	9	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145742065C>T	uc003zdj.2	-	5	470	c.438G>A	c.(436-438)GGG>GGA	p.G146G	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	146					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)|lung(1)|skin(1)	4	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)			AGGGGACAGGCCCTGTACCTG	0.637			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				T	145742065	C	T	145742065	2	4	265	1	0	0	0	0	0	0	0	1	13202	726	26	2		2	RECQL4	8	145742065	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	49406	145742065	621957	423	131712											
LRRC24	441381	broad.mit.edu	37	chr8	145748716	145748716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgatcttcctgtccctggAggtgagcagccgctggccgc	13	14	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145748716A>G	uc003zdm.2	-	5	817	c.685T>C	c.(685-687)TCC>CCC	p.S229P	LRRC24_uc003zdn.2_Missense_Mutation_p.S226P|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24 precursor	229	LRRCT.					integral to membrane					0	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)			CTGTCCCTGGAGGTGAGCAGC	0.647													G	145748716	A	G	145748716	3	3	265	1	0	0	0	0	1	0	0	0	8979	304	11	3	860	3	LRRC24	8	145748716	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	6651	145748716	615306	424	131713											
ZNF7	7553	broad.mit.edu	37	chr8	146066746	146066746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtttatttcagattctaCgattaggactgaaaatgagc	8	7	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:146066746C>T	uc003zeg.3	+	5	391	c.254C>T	c.(253-255)ACG>ATG	p.T85M	ZNF7_uc010mge.2_Missense_Mutation_p.T96M|ZNF7_uc011lln.1_Translation_Start_Site|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Translation_Start_Site|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	85					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	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)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	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)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCAGATTCTACGATTAGGACT	0.488													T	146066746	C	T	146066746	3	4	265	1	0	0	0	0	1	0	0	0	18099	536	19	1	268	1	ZNF7	8	146066746	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	318030	146066746	297276	425	131714											
C8orf33	65265	broad.mit.edu	37	chr8	146278738	146278738	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaagaacgcccttgccCcggaagaggcagctgatgca	12	12	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:146278738C>A	uc003zfc.3	+	4	513	c.459C>A	c.(457-459)CCC>CCA	p.P153P	C8orf33_uc003zfd.2_RNA	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	153											0	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)		CGCCCTTGCCCCGGAAGAGGC	0.542													A	146278738	C	A	146278738	2	1	265	1	0	0	0	0	0	0	0	1	2421	610	22	5		5	C8orf33	8	146278738	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	211992	146278738	85284	426	131715											
FOXD4	2298	broad.mit.edu	37	chr9	117504	117504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgggctcccggggTcggttggtggcgctggaaac	21	9	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:117504T>C	uc003zfz.2	-	1	914	c.616A>G	c.(616-618)ACC>GCC	p.T206A		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	206	Pro-rich.				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			skin(1)	1	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)		GCTCCCGGGGTCGGTTGGTGG	0.692													C	117504	T	C	117504	3	2	265	1	0	0	0	0	1	0	0	0	5999	1667	58	3	707	3	FOXD4	9	117504	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08		117504	141095927	427	131716											
PPAPDC2	403313	broad.mit.edu	37	chr9	4662738	4662738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagctgggggtgtgcgcGggagagagctcgtcgtgggg	22	6	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:4662738G>A	uc003zin.2	+	1	441	c.363G>A	c.(361-363)GCG>GCA	p.A121A	C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain	121						integral to membrane	hydrolase activity				0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGGTGTGCGCGGGAGAGAGCT	0.657											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4662738	G	A	4662738	2	1	265	1	0	0	0	0	0	0	0	1	12295	1103	39	1		1	PPAPDC2	9	4662738	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4545234	4662738	136550693	428	131717											
KIAA2026	158358	broad.mit.edu	37	chr9	5920290	5920290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccagctccaagaccTtgtggtggaacaataaaccg	11	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:5920290T>G	uc003zjq.3	-	8	5922	c.5706A>C	c.(5704-5706)CAA>CAC	p.Q1902H	KIAA2026_uc010mht.2_Missense_Mutation_p.Q1077H	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1902										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTCCAAGACCTTGTGGTGGAA	0.423													G	5920290	T	G	5920290	3	3	265	1	0	0	0	0	1	0	0	0	8270	1606	56	5	609	5	KIAA2026	9	5920290	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1257552	5920290	135293141	429	131718											
PLIN2	123	broad.mit.edu	37	chr9	19116373	19116373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagccagttgaggggcGtgttgttaacaagataatcc	11	9	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:19116373G>A	uc003zno.2	-	8	1366	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	PLIN2_uc011lna.1_Missense_Mutation_p.T368M	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	396					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		p.T396K(1)		ovary(2)	2						GTTGAGGGGCGTGTTGTTAAC	0.488													A	19116373	G	A	19116373	3	1	265	1	0	0	0	0	1	0	0	0	12090	1145	40	1	130	1	PLIN2	9	19116373	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	13196083	19116373	122097058	430	131719											
DENND4C	55667	broad.mit.edu	37	chr9	19324482	19324482	+	Frame_Shift_Del	DEL	T	T	-													ataaagatactggattagcaTtttttgatgactgcatagaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:19324482delT	uc003znq.2	+	9	1255	c.1222delT	c.(1222-1224)TTTfs	p.F408fs	DENND4C_uc011lnc.1_Intron	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	408						integral to membrane				ovary(1)|skin(1)	2						TGGATTAGCATTTTTTGATGA	0.289													-	19324482	T	-	19324482	7	5	265	1	0	1	0	1	0	0	0	0	4435	1493	52	0	1256	0	DENND4C	9	19324482	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	208109	19324482	121888949	431	131720											
TEK	7010	broad.mit.edu	37	chr9	27228229	27228229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctaatgagacaatgctggCgggagaagccttatgagagg	14	6	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:27228229C>T	uc003zqi.3	+	22	3668	c.3226C>T	c.(3226-3228)CGG>TGG	p.R1076W	TEK_uc011lno.1_Missense_Mutation_p.R1033W|TEK_uc011lnp.1_Missense_Mutation_p.R928W	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1076	Protein kinase.|Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACAATGCTGGCGGGAGAAGCC	0.433													T	27228229	C	T	27228229	3	4	265	1	0	0	0	0	1	0	0	0	15748	759	27	1	3312	1	TEK	9	27228229	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7903747	27228229	113985202	432	131721											
NOL6	65083	broad.mit.edu	37	chr9	33465880	33465880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgataggccacgcgaatccGaaacacaaatccatcctgtt	7	13	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:33465880G>A	uc003zsz.2	-	19	2481	c.2380C>T	c.(2380-2382)CGG>TGG	p.R794W	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R791W|NOL6_uc011lob.1_Missense_Mutation_p.R742W|NOL6_uc003ztb.1_Missense_Mutation_p.R794W	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	794					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACGCGAATCCGAAACACAAAT	0.582													A	33465880	G	A	33465880	3	1	265	1	0	0	0	0	1	0	0	0	10525	1057	37	1	1092	1	NOL6	9	33465880	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	6237651	33465880	107747551	433	131722											
CNTFR	1271	broad.mit.edu	37	chr9	34552676	34552676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagcaagctcacccgcAgcctgggcctccgtggtgag	16	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:34552676A>G	uc003zup.1	-	8	1226	c.945T>C	c.(943-945)GCT>GCC	p.A315A	CNTFR_uc003zuq.1_Silent_p.A315A	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	315					nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCTCACCCGCAGCCTGGGCCT	0.642													G	34552676	A	G	34552676	2	3	265	1	0	0	0	0	0	0	0	1	3638	175	7	3		3	CNTFR	9	34552676	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1086796	34552676	106660755	434	131723											
ARID3C	138715	broad.mit.edu	37	chr9	34623868	34623868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggcctcactgggtgcGtagagtgaaggcggccgagg	17	12	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:34623868G>A	uc011lon.1	-	3	568	c.568C>T	c.(568-570)CGC>TGC	p.R190C		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	190	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CACTGGGTGCGTAGAGTGAAG	0.721													A	34623868	G	A	34623868	3	1	265	1	0	0	0	0	1	0	0	0	918	1145	40	1	689	1	ARID3C	9	34623868	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	71192	34623868	106589563	435	131724											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										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)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	265	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	419782	35043650	106169781	436	131725											
UNC13B	10497	broad.mit.edu	37	chr9	35399003	35399003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgcagatagcgtactcCggcctctcatggacttcctg	11	12	1	1	rs141208447		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35399003C>T	uc003zwq.2	+	32	4091	c.3799C>T	c.(3799-3801)CGG>TGG	p.R1267W	UNC13B_uc003zwr.2_Missense_Mutation_p.R1267W	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1267	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCGTACTCCGGCCTCTCAT	0.587													T	35399003	C	T	35399003	3	4	265	1	0	0	0	0	1	0	0	0	16982	643	23	1	3925	1	UNC13B	9	35399003	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	355353	35399003	105814428	437	131726											
TESK1	7016	broad.mit.edu	37	chr9	35605979	35605979	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccggctgctcctgcccccAggttcggcaccgacagtcag	12	18	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35605979A>G	uc003zxa.2	+	2	556	c.220_splice	c.e2-2	p.V74_splice	TESK1_uc003zwz.1_Splice_Site|TESK1_uc010mks.2_Splice_Site	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1						cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTGCCCCCAGGTTCGGCAC	0.662													G	35605979	A	G	35605979	5	3	265	1	0	0	0	0	0	0	1	0	15764	202	7	3	224	3	TESK1	9	35605979	Splice_Site	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	206976	35605979	105607452	438	131727											
TESK1	7016	broad.mit.edu	37	chr9	35608960	35608960	+	Frame_Shift_Del	DEL	C	C	-													tgcccccatcaccagaatcaCcccccaactggggggacaat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35608960delC	uc003zxa.2	+	10	1438	c.1102delC	c.(1102-1104)CCCfs	p.P368fs	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Frame_Shift_Del_p.P208fs	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	368					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCAGAATCACCCCCCAACTG	0.607													-	35608960	C	-	35608960	7	5	265	1	0	1	0	1	0	0	0	0	15764	507	18	0	1140	0	TESK1	9	35608960	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	2981	35608960	105604471	439	131728											
RECK	8434	broad.mit.edu	37	chr9	36118778	36118778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagagcaaccgagcccGtatgtgggcacaatggtgag	14	9	0	2	rs141528795		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:36118778G>A	uc003zyv.2	+	18	2364	c.2278G>A	c.(2278-2280)GTA>ATA	p.V760I	RECK_uc003zyw.2_Missense_Mutation_p.V632I|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	760	Kazal-like 3.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AACCGAGCCCGTATGTGGGCA	0.537													A	36118778	G	A	36118778	3	1	265	1	0	0	0	0	1	0	0	0	13200	1145	40	1	2348	1	RECK	9	36118778	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	509818	36118778	105094653	440	131729											
ZBTB5	9925	broad.mit.edu	37	chr9	37440993	37440993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaacctatcattaccCtggagaaggaggagtggagg	16	6	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:37440993C>A	uc003zzx.2	-	2	1756	c.1556G>T	c.(1555-1557)AGG>ATG	p.R519M		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TATCATTACCCTGGAGAAGGA	0.542													A	37440993	C	A	37440993	3	1	265	1	0	0	0	0	1	0	0	0	17548	681	24	5	481	5	ZBTB5	9	37440993	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1322215	37440993	103772438	441	131730											
TLE4	7091	broad.mit.edu	37	chr9	82323650	82323650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatctcccctcagatgagCgcagctgctgccgccgccgc	10	18	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:82323650C>T	uc004ald.2	+	14	2136	c.1287C>T	c.(1285-1287)AGC>AGT	p.S429S	TLE4_uc004alc.2_Silent_p.S404S|TLE4_uc010mpr.2_Silent_p.S283S|TLE4_uc004ale.2_Silent_p.S41S|TLE4_uc011lsq.1_Silent_p.S372S|TLE4_uc010mps.2_Silent_p.S328S|TLE4_uc004alf.2_Silent_p.S343S	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						CTCAGATGAGCGCAgctgctg	0.463													T	82323650	C	T	82323650	2	4	265	1	0	0	0	0	0	0	0	1	15938	767	27	1		1	TLE4	9	82323650	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	44882657	82323650	58889781	442	131731											
DAPK1	1612	broad.mit.edu	37	chr9	90254270	90254270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctctctttttttcaagcCtgagaacataatgcttttgg	6	9	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:90254270C>A	uc004apc.2	+	5	563	c.425C>A	c.(424-426)CCT>CAT	p.P142H	DAPK1_uc004ape.2_Missense_Mutation_p.P142H|DAPK1_uc004apd.2_Missense_Mutation_p.P142H|DAPK1_uc011ltg.1_Missense_Mutation_p.P142H|DAPK1_uc011lth.1_Translation_Start_Site	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	142	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TTTTTCAAGCCTGAGAACATA	0.343									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90254270	C	A	90254270	3	1	265	1	0	0	0	0	1	0	0	0	4235	695	24	5	439	5	DAPK1	9	90254270	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7930620	90254270	50959161	443	131732											
KIAA1529	57653	broad.mit.edu	37	chr9	100070318	100070318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctggacgacggcttccCggcaggggcatccagccagc	13	15	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:100070318C>T	uc011lut.1	+	14	1295	c.522C>T	c.(520-522)CCC>CCT	p.P174P	KIAA1529_uc004axe.1_Silent_p.P174P|KIAA1529_uc004axg.1_Silent_p.P35P|KIAA1529_uc011lus.1_Silent_p.P35P|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Silent_p.P35P|KIAA1529_uc011luv.1_Silent_p.P35P	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GACGGCTTCCCGGCAGGGGCA	0.587													T	100070318	C	T	100070318	2	4	265	1	0	0	0	0	0	0	0	1	8240	639	23	1		1	KIAA1529	9	100070318	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	9816048	100070318	41143113	444	131733											
KIAA1529	57653	broad.mit.edu	37	chr9	100092974	100092974	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgagaaggaggaagaggaGgaggaggagaagctggagga	22	1	0	3	rs34176734		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:100092974G>T	uc011lut.1	+	30	3521	c.2748G>T	c.(2746-2748)GAG>GAT	p.E916D	KIAA1529_uc004axe.1_Missense_Mutation_p.E916D|KIAA1529_uc004axg.1_Missense_Mutation_p.E777D|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E101D|KIAA1529_uc011lus.1_Missense_Mutation_p.E734D|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E777D|KIAA1529_uc011luv.1_Missense_Mutation_p.E774D	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				aggaagaggaggaggaggaga	0.274													T	100092974	G	T	100092974	3	4	265	1	0	0	0	0	1	0	0	0	8240	991	35	5	2830	5	KIAA1529	9	100092974	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	22656	100092974	41120457	445	131734											
TDRD7	23424	broad.mit.edu	37	chr9	100227190	100227190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaaggaatattacagTaagaatcctaagatcacacc	8	7	1	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:100227190T>C	uc004axj.2	+	8	1734	c.1509T>C	c.(1507-1509)AGT>AGC	p.S503S	TDRD7_uc011lux.1_Silent_p.S429S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	503					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				AATATTACAGTAAGAATCCTA	0.453													C	100227190	T	C	100227190	2	2	265	1	0	0	0	0	0	0	0	1	15732	1635	57	3		3	TDRD7	9	100227190	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	134216	100227190	40986241	446	131735											
TMEM38B	55151	broad.mit.edu	37	chr9	108483839	108483839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatattacatttttttgcccGcatgacctagtttcccaggg	7	10	0	1	rs141978983		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:108483839G>A	uc004bcu.1	+	3	408	c.291G>A	c.(289-291)CCG>CCA	p.P97P	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	97	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						TTTTTTGCCCGCATGACCTAG	0.353													A	108483839	G	A	108483839	2	1	265	1	0	0	0	0	0	0	0	1	16157	1074	38	1		1	TMEM38B	9	108483839	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	8256649	108483839	32729592	447	131736											
ZNF462	58499	broad.mit.edu	37	chr9	109690562	109690562	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccctgagaaaagcctgCagctagcttcagccaacccc	8	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:109690562C>T	uc004bcz.2	+	3	4658	c.4369C>T	c.(4369-4371)CAG>TAG	p.Q1457*	ZNF462_uc010mto.2_Nonsense_Mutation_p.Q1305*|ZNF462_uc004bda.2_Nonsense_Mutation_p.Q1305*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1457					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GAAAAGCCTGCAGCTAGCTTC	0.532													T	109690562	C	T	109690562	4	4	265	1	0	0	0	0	0	1	0	0	17923	711	25	2	4375	2	ZNF462	9	109690562	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1206723	109690562	31522869	448	131737											
MUSK	4593	broad.mit.edu	37	chr9	113547894	113547894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtaccagaggatgccGctccttctgaaccccaaatt	7	15	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:113547894G>A	uc004bey.2	+	12	1772	c.1674G>A	c.(1672-1674)CCG>CCA	p.P558P	MUSK_uc004bez.1_Silent_p.P138P	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	558	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						AGAGGATGCCGCTCCTTCTGA	0.498													A	113547894	G	A	113547894	2	1	265	1	0	0	0	0	0	0	0	1	9989	1074	38	1		1	MUSK	9	113547894	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3857332	113547894	27665537	449	131738											
GAPVD1	26130	broad.mit.edu	37	chr9	128099537	128099537	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaaggttcactatgcTaggccatcgcatccaccacc	8	15	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:128099537T>C	uc010mwx.2	+	17	2870	c.2544T>C	c.(2542-2544)GCT>GCC	p.A848A	GAPVD1_uc011lzs.1_Silent_p.A848A|GAPVD1_uc004bpp.2_Silent_p.A875A|GAPVD1_uc004bpq.2_Silent_p.A848A|GAPVD1_uc004bpr.2_Silent_p.A827A|GAPVD1_uc004bps.2_Silent_p.A848A|GAPVD1_uc010mwy.1_Silent_p.A681A	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	848					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TTCACTATGCTAGGCCATCGC	0.313													C	128099537	T	C	128099537	2	2	265	1	0	0	0	0	0	0	0	1	6239	1509	53	3		3	GAPVD1	9	128099537	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	14551643	128099537	13113894	450	131739											
LAMC3	10319	broad.mit.edu	37	chr9	133928328	133928328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagcctccgcctccgcGtcagtcccggccccagccct	9	22	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:133928328G>A	uc004caa.1	+	11	2013	c.1915G>A	c.(1915-1917)GTC>ATC	p.V639I		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	639	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGCCTCCGCGTCAGTCCCGG	0.682											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	133928328	G	A	133928328	3	1	265	1	0	0	0	0	1	0	0	0	8616	1145	40	1	1957	1	LAMC3	9	133928328	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5828791	133928328	7285103	451	131740											
C9orf98	158067	broad.mit.edu	37	chr9	135750575	135750575	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtggatcaggagttgCtccagcatgttctgtgggtg	17	7	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:135750575C>G	uc004cbu.1	-	2	652	c.96G>C	c.(94-96)GAG>GAC	p.E32D	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Intron	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	32						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		TCAGGAGTTGCTCCAGCATGT	0.547													G	135750575	C	G	135750575	3	3	265	1	0	0	0	0	1	0	0	0	2509	796	28	5	1391	5	C9orf98	9	135750575	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1822247	135750575	5462856	452	131741											
RALGDS	5900	broad.mit.edu	37	chr9	135981349	135981351	+	In_Frame_Del	DEL	GTT	GTT	-													agctcccggctcaatgagtaGttgttctcatctgagaagat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:135981349_135981351delGTT	uc004cco.2	-	9	1590_1592	c.1570_1572delAAC	c.(1570-1572)AACdel	p.N524del	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_In_Frame_Del_p.N512del|RALGDS_uc004ccr.2_In_Frame_Del_p.N523del|RALGDS_uc011mcv.1_In_Frame_Del_p.N495del|RALGDS_uc004ccs.2_In_Frame_Del_p.N469del|RALGDS_uc011mcw.1_In_Frame_Del_p.N595del|RALGDS_uc004ccv.1_In_Frame_Del_p.N293del|RALGDS_uc004ccu.1_In_Frame_Del_p.N293del	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	524	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCAATGAGTAGTTGTTCTCATCT	0.369			T	CIITA	PMBL|Hodgkin Lymphona|								-	135981351	GTT	-	135981349	7	5	265	1	0	1	0	1	0	0	0	0	13016	1020	36	0	1212	0	RALGDS	9	135981349	In_Frame_Del	DEL	GTT	TCGA-HU-A4G9-01A-11D-A24D-08	230774	135981349	5232082	453	131742											
RALGDS	5900	broad.mit.edu	37	chr9	136037753	136037753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacactgaggcttgtgcccGccaacaggcagaaccccaga	12	14	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:136037753G>A	uc011mcw.1	-	2	328	c.47C>T	c.(46-48)GCG>GTG	p.A16V	GBGT1_uc004ccx.2_5'UTR|GBGT1_uc010nab.2_Missense_Mutation_p.A16V|GBGT1_uc011mcx.1_Missense_Mutation_p.A16V|GBGT1_uc004ccw.2_Missense_Mutation_p.A16V|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Missense_Mutation_p.A16V	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:Variant_position_missing_in_Q12967_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTTGTGCCCGCCAACAGGCA	0.488			T	CIITA	PMBL|Hodgkin Lymphona|								A	136037753	G	A	136037753	3	1	265	1	0	0	0	0	1	0	0	0	13016	1087	38	1		1	RALGDS	9	136037753	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	56404	136037753	5175678	454	131743											
KIAA0649	9858	broad.mit.edu	37	chr9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-													cacacgcagccagagggccaGgggggtcccacatctggccg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:138379043delG	uc004cfr.1	+	4	3236	c.2687delG	c.(2686-2688)AGGfs	p.R896fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	896						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CAGAGGGCCAGGGGGGTCCCA	0.701													-	138379043	G	-	138379043	7	5	265	1	0	1	0	1	0	0	0	0	8187	1000	35	0	2689	0	KIAA0649	9	138379043	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	2341290	138379043	2834388	455	131744											
SNAPC4	6621	broad.mit.edu	37	chr9	139272401	139272401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccagaagaggcacaCgcaccccccgctggcccccc	10	21	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139272401C>T	uc004chh.2	-	21	3887	c.3878G>A	c.(3877-3879)CGT>CAT	p.R1293H		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1293	SNAPC2-binding.				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AAGAGGCACACGCACCCCCCG	0.706													T	139272401	C	T	139272401	3	4	265	1	0	0	0	0	1	0	0	0	14837	536	19	1	539	1	SNAPC4	9	139272401	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	893358	139272401	1941030	456	131745											
NOTCH1	4851	broad.mit.edu	37	chr9	139418408	139418408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggggtcctggcatcgcGggcccacgaaggccccgcca	16	15	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139418408G>A	uc004chz.2	-	3	164	c.164C>T	c.(163-165)CCG>CTG	p.P55L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	55	Extracellular (Potential).|EGF-like 1.				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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCATCGCGGGCCCACGAA	0.682			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139418408	G	A	139418408	3	1	265	1	0	0	0	0	1	0	0	0	10547	1116	39	1	7631	1	NOTCH1	9	139418408	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	146007	139418408	1795023	457	131746											
ABCA2	20	broad.mit.edu	37	chr9	139908775	139908775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggtcagctccgagcacCgggccagattgccagcgtga	14	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139908775C>T	uc011mem.1	-	26	4230	c.4082G>A	c.(4081-4083)CGG>CAG	p.R1361Q	ABCA2_uc011mel.1_Missense_Mutation_p.R1362Q|ABCA2_uc004ckl.1_Missense_Mutation_p.R1292Q|ABCA2_uc004ckm.1_Missense_Mutation_p.R1392Q|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1361					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				0	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)		CTCCGAGCACCGGGCCAGATT	0.682													T	139908775	C	T	139908775	3	4	265	1	0	0	0	0	1	0	0	0	32	652	23	1	3317	1	ABCA2	9	139908775	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	490367	139908775	1304656	458	131747											
ENTPD2	954	broad.mit.edu	37	chr9	139943197	139943197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcgaagagcagcaggAggacgacccaggagctgaag	18	9	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139943197A>G	uc004ckw.1	-	9	1456	c.1400T>C	c.(1399-1401)CTC>CCC	p.L467P	NPDC1_uc004ckr.2_5'Flank|NPDC1_uc004ckt.2_5'Flank|NPDC1_uc004cku.2_5'Flank|ENTPD2_uc004ckv.1_Missense_Mutation_p.L156P|ENTPD2_uc004ckx.1_Missense_Mutation_p.L444P	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	467	Helical; (Potential).					integral to membrane	ATP binding				0	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)		GAGCAGCAGGAGGACGACCCA	0.682													G	139943197	A	G	139943197	3	3	265	1	0	0	0	0	1	0	0	0	5139	304	11	3	91	3	ENTPD2	9	139943197	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	34422	139943197	1270234	459	131748											
TPRN	286262	broad.mit.edu	37	chr9	140086686	140086686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgtcagactccccccAgcgctccactcccccgcatc	8	22	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:140086686A>G	uc004clt.2	-	3	1915	c.1915T>C	c.(1915-1917)TGG>CGG	p.W639R	TPRN_uc004clu.2_Intron	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					sensory perception of sound	stereocilium					0						GACTCCCCCCAGCGCTCCACT	0.667													G	140086686	A	G	140086686	3	3	265	1	0	0	0	0	1	0	0	0	16418	188	7	3	125	3	TPRN	9	140086686	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	143489	140086686	1126745	460	131749											
NOXA1	10811	broad.mit.edu	37	chr9	140325259	140325259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctctgccatccccgaCgaccagggctggggcgtccg	15	16	1	0	rs142901709	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:140325259C>T	uc004cmv.2	+	6	771	c.636C>T	c.(634-636)GAC>GAT	p.D212D	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Silent_p.D212D|NOXA1_uc010nch.2_Intron	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	212	Mediates interaction with RAC1.				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCATCCCCGACGACCAGGGCT	0.697													T	140325259	C	T	140325259	2	4	265	1	0	0	0	0	0	0	0	1	10560	535	19	1		1	NOXA1	9	140325259	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	238573	140325259	888172	461	131750											
IDI1	3422	broad.mit.edu	37	chr10	1088622	1088622	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgtctctgtgctgctcGcctcactccaagggcgtcac	10	17	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:1088622G>A	uc001iga.2	-	4	605	c.487C>T	c.(487-489)CGA>TGA	p.R163*	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Nonsense_Mutation_p.R107*|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Nonsense_Mutation_p.R107*	NM_004508	NP_004499	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase	106	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TGTGCTGCTCGCCTCACTCCA	0.463													A	1088622	G	A	1088622	4	1	265	1	0	0	0	0	0	1	0	0	7499	1095	38	1	375	1	IDI1	10	1088622	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		1088622	134446125	462	131751											
WDR37	22884	broad.mit.edu	37	chr10	1118155	1118155	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacagaagcgcaaatcCcatagcctttctatacgaag	6	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:1118155C>A	uc001igf.1	+	2	233	c.60C>A	c.(58-60)TCC>TCA	p.S20S	WDR37_uc001ige.2_Silent_p.S20S|WDR37_uc009xhm.1_Silent_p.S20S|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_5'Flank	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	20											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		AGCGCAAATCCCATAGCCTTT	0.488													A	1118155	C	A	1118155	2	1	265	1	0	0	0	0	0	0	0	1	17288	610	22	5		5	WDR37	10	1118155	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	29533	1118155	134416592	463	131752											
FAM171A1	221061	broad.mit.edu	37	chr10	15290656	15290656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagcttctggtcaaaccGccacgccgcgacataggcat	9	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:15290656G>A	uc001iob.2	-	5	743	c.736C>T	c.(736-738)CGG>TGG	p.R246W		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	246	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TGGTCAAACCGCCACGCCGCG	0.552													A	15290656	G	A	15290656	3	1	265	1	0	0	0	0	1	0	0	0	5490	1086	38	1	1952	1	FAM171A1	10	15290656	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	14172501	15290656	120244091	464	131753											
SPAG6	9576	broad.mit.edu	37	chr10	22634743	22634743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcgagacgctgcagaaCgcgggtgagcccggagcccg	15	13	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:22634743C>T	uc001iri.2	+	2	259	c.117C>T	c.(115-117)AAC>AAT	p.N39N	SPAG6_uc001irj.2_Silent_p.N39N|SPAG6_uc010qct.1_Translation_Start_Site|SPAG6_uc009xkh.2_Silent_p.N17N	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	39	ARM 1.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						CGCTGCAGAACGCGGGTGAGC	0.692													T	22634743	C	T	22634743	2	4	265	1	0	0	0	0	0	0	0	1	14982	535	19	1		1	SPAG6	10	22634743	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7344087	22634743	112900004	465	131754											
PTCHD3	374308	broad.mit.edu	37	chr10	27687763	27687763	+	Frame_Shift_Del	DEL	A	A	-													aaggggccaaaatagtctctAaaaaacaaacttattggatg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:27687762_27687762TA>T	uc001itu.2	-	3	1883	c.1765_1765TA>A	c.(1765-1767)agafs	p.R589fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	589					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						AAATAGTCTCTAAAAAACAAA	0.368													-	27687763	A	-	27687763	7	5	265	1	0	1	0	1	0	0	0	0	12734	359	13	0	543	0	PTCHD3	10	27687763	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	5053020	27687763	107846984	466	131755											
SVIL	6840	broad.mit.edu	37	chr10	29775128	29775128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctattatggctgcttcAtagagttcatcttcttttgg	8	7	5	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:29775128A>G	uc001iut.1	-	26	5418	c.4665T>C	c.(4663-4665)TAT>TAC	p.Y1555Y	LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.Y469Y|SVIL_uc001iuu.1_Silent_p.Y1129Y|SVIL_uc009xlc.2_Silent_p.Y347Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1555	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGGCTGCTTCATAGAGTTCAT	0.423													G	29775128	A	G	29775128	2	3	265	1	0	0	0	0	0	0	0	1	15418	224	8	3		3	SVIL	10	29775128	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2087365	29775128	105759619	467	131756											
KIF5B	3799	broad.mit.edu	37	chr10	32307245	32307245	+	Splice_Site	DEL	T	T	-													ctcggcatagttacattaccTttttaactcttgtagccagg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:32307244_32307244CT>C	uc001iwe.4	-	22	2909	c.2439_splice	c.e22+1	p.K813_splice		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	813					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)				GTTACATTACCTTTTTAACTC	0.368			T	"RET, ALK"	NSCLC								-	32307245	T	-	32307245	8	5	265	1	0	1	0	1	0	0	1	0	8306	1623	56	0	469	0	KIF5B	10	32307245	Splice_Site	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	2532117	32307245	103227502	468	131757											
FZD8	8325	broad.mit.edu	37	chr10	35928502	35928502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctggcccagcagcagCgggtgcacagggagcgccag	16	14	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:35928502C>T	uc001iyz.1	-	1	1861	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	619	Cytoplasmic (Potential).				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				0						CCAGCAGCAGCGGGTGCACAG	0.408													T	35928502	C	T	35928502	3	4	265	1	0	0	0	0	1	0	0	0	6136	768	27	1	232	1	FZD8	10	35928502	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3621257	35928502	99606245	469	131758											
RASGEF1A	221002	broad.mit.edu	37	chr10	43693537	43693537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacgaagaggttgaacacaGggatgacgatcttttcacgg	12	7	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:43693537G>T	uc001jap.1	-	10	1220	c.1139C>A	c.(1138-1140)CCT>CAT	p.P380H	RASGEF1A_uc001jao.1_Missense_Mutation_p.P388H	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	380	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						GTTGAACACAGGGATGACGAT	0.537											OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43693537	G	T	43693537	3	4	265	1	0	0	0	0	1	0	0	0	13069	1000	35	5	322	5	RASGEF1A	10	43693537	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7765035	43693537	91841210	470	131759											
ZNF239	8187	broad.mit.edu	37	chr10	44052231	44052231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcccacacttgctgcActcatagggcttctctccag	7	17	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:44052231A>G	uc001jaw.3	-	2	1950	c.1297T>C	c.(1297-1299)TGC>CGC	p.C433R	ZNF239_uc001jax.3_Missense_Mutation_p.C433R|ZNF239_uc009xmj.2_Missense_Mutation_p.C433R|ZNF239_uc009xmk.2_Missense_Mutation_p.C433R	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	433	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						CACTTGCTGCACTCATAGGGC	0.517													G	44052231	A	G	44052231	3	3	265	1	0	0	0	0	1	0	0	0	17788	159	6	3	83	3	ZNF239	10	44052231	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	358694	44052231	91482516	471	131760											
GDF10	2662	broad.mit.edu	37	chr10	48438579	48438579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggccgtcggcggccgcGggcagtgcggaccaggcggg	21	13	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:48438579G>A	uc001jfb.2	-	1	588	c.132C>T	c.(130-132)CCC>CCT	p.P44P	GDF10_uc009xnp.2_Silent_p.P44P|GDF10_uc009xnq.1_Silent_p.P44P	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	44					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						CGGCGGCCGCGGGCAGTGCGG	0.632													A	48438579	G	A	48438579	2	1	265	1	0	0	0	0	0	0	0	1	6311	1103	39	1		1	GDF10	10	48438579	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4386348	48438579	87096168	472	131761											
FRMPD2	143162	broad.mit.edu	37	chr10	49459733	49459733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagaggacaggctcatGcctacaataaagacatgcat	9	10	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:49459733G>A	uc001jgi.2	-	2	134	c.27C>T	c.(25-27)GGC>GGT	p.G9G	FRMPD2_uc001jgh.2_5'UTR|FRMPD2_uc001jgj.2_Silent_p.G9G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	9					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		ACAGGCTCATGCCTACAATAA	0.602													A	49459733	G	A	49459733	2	1	265	1	0	0	0	0	0	0	0	1	6058	1333	46	2		2	FRMPD2	10	49459733	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1021154	49459733	86075014	473	131762											
SLC18A3	6572	broad.mit.edu	37	chr10	50819345	50819345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcgcagcctgcagggcCtgggctcagccttcgccgac	15	17	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:50819345C>A	uc001jhw.2	+	1	999	c.559C>A	c.(559-561)CTG>ATG	p.L187M	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	187	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CCTGCAGGGCCTGGGCTCAGC	0.677													A	50819345	C	A	50819345	3	1	265	1	0	0	0	0	1	0	0	0	14427	680	24	5	561	5	SLC18A3	10	50819345	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1359612	50819345	84715402	474	131763											
OGDHL	55753	broad.mit.edu	37	chr10	50946253	50946253	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagggtaggcatccgagTcatcattgctcatctgcagg	11	11	5	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:50946253T>G	uc001jie.2	-	18	2517	c.2375A>C	c.(2374-2376)GAC>GCC	p.D792A	OGDHL_uc009xog.2_Missense_Mutation_p.D819A|OGDHL_uc010qgt.1_Missense_Mutation_p.D735A|OGDHL_uc010qgu.1_Missense_Mutation_p.D583A	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	792					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGCATCCGAGTCATCATTGCT	0.622													G	50946253	T	G	50946253	3	3	265	1	0	0	0	0	1	0	0	0	10840	1667	58	5	681	5	OGDHL	10	50946253	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	126908	50946253	84588494	475	131764											
ANK3	288	broad.mit.edu	37	chr10	61833851	61833851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcaattctttcagatGcaccttcaccgcctggtgga	7	12	5	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:61833851G>A	uc001jky.2	-	37	6980	c.6788C>T	c.(6787-6789)GCA>GTA	p.A2263V	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2263					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCTTTCAGATGCACCTTCACC	0.463													A	61833851	G	A	61833851	3	1	265	1	0	0	0	0	1	0	0	0	622	1319	46	2	6686	2	ANK3	10	61833851	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	10887598	61833851	73700896	476	131765											
EGR2	1959	broad.mit.edu	37	chr10	64573489	64573489	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggcggcggcggcggcggcTgctgctgctgctgagctgct	19	12	0	1	rs112474655		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:64573489T>G	uc010qim.1	-	3	1063	c.909A>C	c.(907-909)GCA>GCC	p.A303A	EGR2_uc010qin.1_Silent_p.A253A|EGR2_uc001jmi.2_Silent_p.A303A|EGR2_uc010qio.1_Silent_p.A316A|EGR2_uc009xph.2_Silent_p.A303A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	303	Poly-Ala.				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			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGCGGCGGCTGCTGCTGCTG	0.697													G	64573489	T	G	64573489	2	3	265	1	0	0	0	0	0	0	0	1	4972	1567	55	5		5	EGR2	10	64573489	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2739638	64573489	70961258	477	131766											
JMJD1C	221037	broad.mit.edu	37	chr10	64943307	64943307	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatttgttgttcctatatcAtgatctttagcagcaactac	6	8	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:64943307A>G	uc001jmn.2	-	22	7284	c.6984T>C	c.(6982-6984)CAT>CAC	p.H2328H	JMJD1C_uc001jml.2_Silent_p.H2091H|JMJD1C_uc001jmm.2_Silent_p.H2040H|JMJD1C_uc010qiq.1_Silent_p.H2146H|JMJD1C_uc009xpi.2_Silent_p.H2146H|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.H235H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2328	JmjC.				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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCCTATATCATGATCTTTAG	0.294													G	64943307	A	G	64943307	2	3	265	1	0	0	0	0	0	0	0	1	7950	214	8	3		3	JMJD1C	10	64943307	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	369818	64943307	70591440	478	131767											
JMJD1C	221037	broad.mit.edu	37	chr10	64967739	64967739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcaccggagttaaagtTggaggggaaagactactata	13	6	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:64967739T>C	uc001jmn.2	-	10	3990	c.3690A>G	c.(3688-3690)CCA>CCG	p.P1230P	JMJD1C_uc001jml.2_Silent_p.P1011P|JMJD1C_uc001jmm.2_Silent_p.P942P|JMJD1C_uc010qiq.1_Silent_p.P1048P|JMJD1C_uc009xpi.2_Silent_p.P1048P|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.P267P	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1230					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAGTTAAAGTTGGAGGGGAAA	0.463													C	64967739	T	C	64967739	2	2	265	1	0	0	0	0	0	0	0	1	7950	1799	63	3		3	JMJD1C	10	64967739	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	24432	64967739	70567008	479	131768											
DDX21	9188	broad.mit.edu	37	chr10	70733354	70733354	+	Frame_Shift_Del	DEL	G	G	-													acaggcagagctggaaggacGggggtgtgcatctgctttta							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:70733353_70733353CG>C	uc001jov.1	+	9	1691	c.1601_1601CG>C	c.(1600-1602)acgfs	p.T534fs	DDX21_uc001jow.1_Frame_Shift_Del_p.T466fs	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	534	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTGGAAGGACGGGGGTGTGC	0.413													-	70733354	G	-	70733354	7	5	265	1	0	1	0	1	0	0	0	0	4349	1103	39	0	1640	0	DDX21	10	70733354	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	5765615	70733354	64801393	480	131769											
H2AFY2	55506	broad.mit.edu	37	chr10	71871427	71871427	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcaggagatggccaagctCgacgccaagtagccgccgca	14	13	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:71871427C>T	uc001jqm.2	+	9	1566	c.1107C>T	c.(1105-1107)CTC>CTT	p.L369L	H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	369	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TGGCCAAGCTCGACGCCAAGT	0.577													T	71871427	C	T	71871427	2	4	265	1	0	0	0	0	0	0	0	1	6930	871	31	1		1	H2AFY2	10	71871427	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1138073	71871427	63663320	481	131770											
PRF1	5551	broad.mit.edu	37	chr10	72358855	72358855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtaggcgggctgggTggaggcgttgaagtggtggg	23	5	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:72358855T>C	uc009xqg.2	-	3	783	c.622A>G	c.(622-624)ACC>GCC	p.T208A	PRF1_uc001jrf.3_Missense_Mutation_p.T208A	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	208	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GCGGGCTGGGTGGAGGCGTTG	0.637			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis				C	72358855	T	C	72358855	3	2	265	1	0	0	0	0	1	0	0	0	12478	1696	59	3	1049	3	PRF1	10	72358855	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	487428	72358855	63175892	482	131771											
SEC24C	9632	broad.mit.edu	37	chr10	75525560	75525561	+	Frame_Shift_Ins	INS	-	-	C													tgccatgcttcccacagttcINSccccccagtattttcagcac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:75525559_75525560T>TC	uc001juw.3	+	10	1548_1549	c.1368_1369T>TC	c.(1366-1371)gttcccfs	p.V456fs	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum 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)					TTCCCACAGTTCCCCCCCAGTA	0.51													C	75525561	-	C	75525560	7	5	265	1	0	1	1	0	0	0	0	0	13996	855	30	0	1403	0	SEC24C	10	75525560	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	3166705	75525560	60009187	483	131772											
MYST4	23522	broad.mit.edu	37	chr10	76790451	76790451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccatgcagggtcctgcaCggactttaacgatgcaaaga	11	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:76790451C>T	uc001jwn.1	+	18	6362	c.5869C>T	c.(5869-5871)CGG>TGG	p.R1957W	MYST4_uc001jwo.1_Missense_Mutation_p.R1665W|MYST4_uc001jwp.1_Missense_Mutation_p.R1774W	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1957	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GGGTCCTGCACGGACTTTAAC	0.522			T	CREBBP	AML								T	76790451	C	T	76790451	3	4	265	1	0	0	0	0	1	0	0	0	10105	527	19	1	5931	1	MYST4	10	76790451	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1264891	76790451	58744296	484	131773											
DUPD1	338599	broad.mit.edu	37	chr10	76797703	76797703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaaaaagccccggttcGggaggacgcagcggttcttg	14	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:76797703G>A	uc001jwq.1	-	3	554	c.554C>T	c.(553-555)CCG>CTG	p.P185L		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	185	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCCCGGTTCGGGAGGACGCA	0.647													A	76797703	G	A	76797703	3	1	265	1	0	0	0	0	1	0	0	0	4804	1116	39	1	112	1	DUPD1	10	76797703	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7252	76797703	58737044	485	131774											
ZNF503	84858	broad.mit.edu	37	chr10	77158990	77158990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtgtggcgccagcagcCgcggcggccgttagcgagga	20	12	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:77158990C>T	uc001jxg.2	-	2	1794	c.1458G>A	c.(1456-1458)GCG>GCA	p.A486A	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	486	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CGCCAGCAGCCGCGGCGGCCG	0.687													T	77158990	C	T	77158990	2	4	265	1	0	0	0	0	0	0	0	1	17948	639	23	1		1	ZNF503	10	77158990	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	361287	77158990	58375757	486	131775											
C10orf116	10974	broad.mit.edu	37	chr10	88728342	88728342	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgaagcaacaggtggAggggaccgcccaggaagccg	17	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:88728342A>T	uc001ked.2	+	1	155	c.41A>T	c.(40-42)GAG>GTG	p.E14V	AGAP11_uc001kee.2_5'Flank|uc001kec.1_3'UTR	NM_006829	NP_006820	Q15847	APM2_HUMAN	adipose specific 2	14											0						CAACAGGTGGAGGGGACCGCC	0.662													T	88728342	A	T	88728342	3	4	265	1	0	0	0	0	1	0	0	0	1586	304	11	5	43	5	C10orf116	10	88728342	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	11569352	88728342	46806405	487	131776											
HTR7	3363	broad.mit.edu	37	chr10	92509261	92509261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtaaggtgatggaggcGgagagaagccagacggagag	21	4	0	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:92509261G>A	uc001kha.2	-	2	873	c.630C>T	c.(628-630)TCC>TCT	p.S210S	HTR7_uc001kgz.2_Silent_p.S210S|HTR7_uc001khb.2_Silent_p.S210S	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	210	Helical; Name=4; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGATGGAGGCGGAGAGAAGCC	0.493													A	92509261	G	A	92509261	2	1	265	1	0	0	0	0	0	0	0	1	7452	1103	39	1		1	HTR7	10	92509261	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3780919	92509261	43025486	488	131777											
TNKS2	80351	broad.mit.edu	37	chr10	93600433	93600433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaatatctgctacagcAtggagctgatgtgcatgcta	13	7	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:93600433A>G	uc001khp.2	+	14	1940	c.1643A>G	c.(1642-1644)CAT>CGT	p.H548R		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	548	ANK 10.				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			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				CTGCTACAGCATGGAGCTGAT	0.428													G	93600433	A	G	93600433	3	3	265	1	0	0	0	0	1	0	0	0	16318	217	8	3	1697	3	TNKS2	10	93600433	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1091172	93600433	41934314	489	131778											
TNKS2	80351	broad.mit.edu	37	chr10	93617285	93617285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgaacgaatgctatttcAtggtaagattcctccccacc	6	12	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:93617285A>G	uc001khp.2	+	24	3389	c.3092A>G	c.(3091-3093)CAT>CGT	p.H1031R		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1031	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			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				ATGCTATTTCATGGTAAGATT	0.363													G	93617285	A	G	93617285	3	3	265	1	0	0	0	0	1	0	0	0	16318	217	8	3	3186	3	TNKS2	10	93617285	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	16852	93617285	41917462	490	131779											
PLCE1	51196	broad.mit.edu	37	chr10	95931103	95931103	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taccgcagggtcttgccagtCgactacctttgcttcttaac	8	13	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:95931103C>T	uc001kjk.2	+	4	2293	c.1659C>T	c.(1657-1659)GTC>GTT	p.V553V	PLCE1_uc010qnx.1_Silent_p.V553V|PLCE1_uc001kjm.2_Silent_p.V245V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	553	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			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTTGCCAGTCGACTACCTTT	0.542													T	95931103	C	T	95931103	2	4	265	1	0	0	0	0	0	0	0	1	12034	871	31	1		1	PLCE1	10	95931103	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2313818	95931103	39603644	491	131780											
ZNF518A	9849	broad.mit.edu	37	chr10	97916130	97916130	+	Frame_Shift_Del	DEL	A	A	-													gatgaaaaacaaactactttAaaaaaagattatgatgtgaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:97916129_97916129TA>T	uc001klp.3	+	5	907	c.50_50TA>T	c.(49-51)ttafs	p.L17fs	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Frame_Shift_Del_p.L17fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.L17fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	17					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)		CAAACTACTTTAAAAAAAGAT	0.284													-	97916130	A	-	97916130	7	5	265	1	0	1	0	1	0	0	0	0	17959	359	13	0	53	0	ZNF518A	10	97916130	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1985027	97916130	37618617	492	131781											
BLNK	29760	broad.mit.edu	37	chr10	97964352	97964352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacttgaccctcggtggcGttcagcaggtataggttttt	13	8	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:97964352G>A	uc001kls.3	-	12	1016	c.838C>T	c.(838-840)CGC>TGC	p.R280C	BLNK_uc001kme.3_Missense_Mutation_p.R175C|BLNK_uc001klt.3_Missense_Mutation_p.R171C|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.R198C|BLNK_uc001klv.3_Missense_Mutation_p.R175C|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.R257C|BLNK_uc001kly.3_Missense_Mutation_p.R280C|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.R257C|BLNK_uc001kmb.3_Missense_Mutation_p.R76C|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.R198C|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	280					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			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCTCGGTGGCGTTCAGCAGGT	0.438													A	97964352	G	A	97964352	3	1	265	1	0	0	0	0	1	0	0	0	1447	1145	40	1	556	1	BLNK	10	97964352	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	48222	97964352	37570395	493	131782											
LBX1	10660	broad.mit.edu	37	chr10	102987446	102987446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacttctggtatagaaagcGcttttccaattcatagatct	7	8	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:102987446G>A	uc001ksx.2	-	2	572	c.427C>T	c.(427-429)CGC>TGC	p.R143C	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	143	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TATAGAAAGCGCTTTTCCAAT	0.582													A	102987446	G	A	102987446	3	1	265	1	0	0	0	0	1	0	0	0	8653	1087	38	1	422	1	LBX1	10	102987446	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5023094	102987446	32547301	494	131783											
PSD	5662	broad.mit.edu	37	chr10	104174786	104174786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtgggccctcagagcTgggctgactttcgatggccg	16	12	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:104174786T>C	uc001kvg.1	-	4	1485	c.958A>G	c.(958-960)AGC>GGC	p.S320G	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S320G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	320					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCTCAGAGCTGGGCTGACTT	0.672													C	104174786	T	C	104174786	3	2	265	1	0	0	0	0	1	0	0	0	12646	1580	55	3	2172	3	PSD	10	104174786	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1187340	104174786	31359961	495	131784											
NT5C2	22978	broad.mit.edu	37	chr10	104934693	104934693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatctgctgcattctgtaacCgatcactccaggaggttgac	9	11	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:104934693C>T	uc001kwo.2	-	3	209	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	NT5C2_uc001kwq.2_Missense_Mutation_p.R8Q|NT5C2_uc001kwp.2_Intron	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	8					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		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)	ATTCTGTAACCGATCACTCCA	0.338													T	104934693	C	T	104934693	3	4	265	1	0	0	0	0	1	0	0	0	10687	652	23	1	1730	1	NT5C2	10	104934693	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	759907	104934693	30600054	496	131785											
VWA2	340706	broad.mit.edu	37	chr10	116020979	116020979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attccagttcagttccactcCtcatctggaattccccttgg	6	14	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:116020979C>A	uc001lbl.1	+	5	617	c.296C>A	c.(295-297)CCT>CAT	p.P99H	VWA2_uc001lbk.1_Missense_Mutation_p.P99H|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	99	VWFA 1.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTTCCACTCCTCATCTGGAA	0.478													A	116020979	C	A	116020979	3	1	265	1	0	0	0	0	1	0	0	0	17236	681	24	5	310	5	VWA2	10	116020979	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	11086286	116020979	19513768	497	131786											
AFAP1L2	84632	broad.mit.edu	37	chr10	116057157	116057157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttctgctccaggctcGccaggacttccttgtctgga	10	14	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:116057157G>A	uc001lbn.2	-	17	2430	c.2129C>T	c.(2128-2130)GCG>GTG	p.A710V	AFAP1L2_uc001lbo.2_Missense_Mutation_p.A710V|AFAP1L2_uc010qse.1_Missense_Mutation_p.A763V|AFAP1L2_uc001lbp.2_Missense_Mutation_p.A738V|AFAP1L2_uc001lbm.2_Missense_Mutation_p.A149V|AFAP1L2_uc010qsd.1_Missense_Mutation_p.A276V|AFAP1L2_uc001lbq.1_Missense_Mutation_p.A232V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	710	Potential.				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			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCCAGGCTCGCCAGGACTTC	0.592													A	116057157	G	A	116057157	3	1	265	1	0	0	0	0	1	0	0	0	355	1087	38	1	339	1	AFAP1L2	10	116057157	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	36178	116057157	19477590	498	131787											
FAM53B	9679	broad.mit.edu	37	chr10	126311936	126311936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaatcctcgtccagggCgcagctgtctgactcctcac	9	17	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:126311936C>T	uc001lhv.1	-	5	1667	c.1144G>A	c.(1144-1146)GCC>ACC	p.A382T	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	382										ovary(1)|pancreas(1)	2		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)		TCGTCCAGGGCGCAGCTGTCT	0.701													T	126311936	C	T	126311936	3	4	265	1	0	0	0	0	1	0	0	0	5580	768	27	1	128	1	FAM53B	10	126311936	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	10254779	126311936	9222811	499	131788											
CTBP2	1488	broad.mit.edu	37	chr10	126691652	126691652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgtggtacatcatggCgcccacggcttcgtttagaa	13	9	1	1	rs140067472		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:126691652C>T	uc009yak.2	-	5	522	c.235G>A	c.(235-237)GCC>ACC	p.A79T	CTBP2_uc009yal.2_Missense_Mutation_p.A79T|CTBP2_uc001lif.3_Missense_Mutation_p.A79T|CTBP2_uc001lih.3_Missense_Mutation_p.A79T|CTBP2_uc001lid.3_Missense_Mutation_p.A147T|CTBP2_uc001lie.3_Missense_Mutation_p.A619T	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	79					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				0		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)		TACATCATGGCGCCCACGGCT	0.632													T	126691652	C	T	126691652	3	4	265	1	0	0	0	0	1	0	0	0	3998	768	27	1	1130	1	CTBP2	10	126691652	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	379716	126691652	8843095	500	131789											
DHX32	55760	broad.mit.edu	37	chr10	127530326	127530326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatacctgttaccatggctGcgattgttagcacttcatct	9	10	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:127530326G>A	uc001ljf.1	-	7	2020	c.1529C>T	c.(1528-1530)GCA>GTA	p.A510V	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.A134V|DHX32_uc001ljg.1_Missense_Mutation_p.A510V|BCCIP_uc001ljc.3_3'UTR|BCCIP_uc010quj.1_3'UTR	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	510						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TACCATGGCTGCGATTGTTAG	0.368													A	127530326	G	A	127530326	3	1	265	1	0	0	0	0	1	0	0	0	4505	1319	46	2	722	2	DHX32	10	127530326	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	838674	127530326	8004421	501	131790											
EBF3	253738	broad.mit.edu	37	chr10	131640510	131640510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgtgattgcggggaacGctgtacagcgcctcggcgat	16	9	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:131640510G>A	uc001lki.1	-	13	1274	c.1215C>T	c.(1213-1215)AGC>AGT	p.S405S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	414					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		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)		TGCGGGGAACGCTGTACAGCG	0.647													A	131640510	G	A	131640510	2	1	265	1	0	0	0	0	0	0	0	1	4882	1078	38	1		1	EBF3	10	131640510	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4110184	131640510	3894237	502	131791											
PWWP2B	170394	broad.mit.edu	37	chr10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-													gatgcagctggggtccagctCcccccctcctgcccgcgggg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:134218254_134218254TC>T	uc001lll.4	+	1	279	c.250_250TC>T	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										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)		GGGGTCCAGCTCCCCCCCTCC	0.746													-	134218255	C	-	134218255	7	5	265	1	0	1	0	1	0	0	0	0	12846	855	30	0	257	0	PWWP2B	10	134218255	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	2577745	134218255	1316492	503	131792											
CD81	975	broad.mit.edu	37	chr11	2418088	2418088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcatccggaacagctccGtgtactgaggccccgcagct	13	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:2418088G>A	uc001lwf.1	+	8	936	c.703G>A	c.(703-705)GTG>ATG	p.V235M	CD81_uc001lwg.1_Missense_Mutation_p.V228M|CD81_uc001lwh.1_RNA	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	235	Cytoplasmic (Potential).				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				0		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)		GAACAGCTCCGTGTACTGAGG	0.637													A	2418088	G	A	2418088	3	1	265	1	0	0	0	0	1	0	0	0	3039	1145	40	1	733	1	CD81	11	2418088	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		2418088	132588428	504	131793											
OR56A4	120793	broad.mit.edu	37	chr11	6023815	6023815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactggtcagtgatgatagaCgggtatctcaatggatggca	13	6	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6023815C>T	uc010qzv.1	-	1	564	c.564G>A	c.(562-564)CCG>CCA	p.P188P		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		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)		TGATGATAGACGGGTATCTCA	0.488													T	6023815	C	T	6023815	2	4	265	1	0	0	0	0	0	0	0	1	11135	523	19	1		1	OR56A4	11	6023815	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3605727	6023815	128982701	505	131794											
OR56B4	196335	broad.mit.edu	37	chr11	6129814	6129814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctgtcacacaccttgCagagaaaaagattcccctta	7	12	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6129814C>T	uc010qzx.1	+	1	806	c.806C>T	c.(805-807)GCA>GTA	p.A269V		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A269T(1)		central_nervous_system(1)	1		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)		ACACACCTTGCAGAGAAAAAG	0.507													T	6129814	C	T	6129814	3	4	265	1	0	0	0	0	1	0	0	0	11138	710	25	2	808	2	OR56B4	11	6129814	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	105999	6129814	128876702	506	131795											
DNHD1	144132	broad.mit.edu	37	chr11	6592451	6592451	+	Missense_Mutation	SNP	C	C	T													tcgttacttgggcgtgggcgCggacgcgagcagtgatgtac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6592451C>T	uc001mdw.3	+	42	14273	c.13709C>T	c.(13708-13710)GCG>GTG	p.A4570V	DNHD1_uc001mea.3_Missense_Mutation_p.A839V|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.A838V|DNHD1_uc010rao.1_Missense_Mutation_p.A828V|DNHD1_uc009yfg.2_Missense_Mutation_p.A195V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4570					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		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)		GGCGTGGGCGCGGACGCGAGC	0.687													T	6592451	C	T	6592451	3	4	265	1	0	0	0	0	1	0	0	0	4668	768	27	1	13876	1	DNHD1	11	6592451	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	462637	6592451	128414065	507	131796	678	2									
DNHD1	144132	broad.mit.edu	37	chr11	6592454	6592454	+	Missense_Mutation	SNP	A	A	G													ttacttgggcgtgggcgcggAcgcgagcagtgatgtaccag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6592454A>G	uc001mdw.3	+	42	14276	c.13712A>G	c.(13711-13713)GAC>GGC	p.D4571G	DNHD1_uc001mea.3_Missense_Mutation_p.D840G|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.D839G|DNHD1_uc010rao.1_Missense_Mutation_p.D829G|DNHD1_uc009yfg.2_Missense_Mutation_p.D196G	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4571					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		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)		GTGGGCGCGGACGCGAGCAGT	0.687													G	6592454	A	G	6592454	3	3	265	1	0	0	0	0	1	0	0	0	4668	275	10	3	13879	3	DNHD1	11	6592454	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3	6592454	128414062	508	131797	678	2									
DCHS1	8642	broad.mit.edu	37	chr11	6662364	6662364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggctccagtgggtagcGggtgccaaaagctgtatgct	15	9	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6662364G>A	uc001mem.1	-	2	891	c.481C>T	c.(481-483)CGC>TGC	p.R161C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	161	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGGGTAGCGGGTGCCAAAA	0.607													A	6662364	G	A	6662364	3	1	265	1	0	0	0	0	1	0	0	0	4287	1116	39	1	9495	1	DCHS1	11	6662364	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	69910	6662364	128344152	509	131798											
DKK3	27122	broad.mit.edu	37	chr11	12029972	12029972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccatcagttcctcaaccTcgcggaacatctcattgagg	7	15	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:12029972T>C	uc001mju.2	-	1	215	c.158A>G	c.(157-159)GAG>GGG	p.E53G	DKK3_uc010rcf.1_Missense_Mutation_p.E53G|DKK3_uc001mjv.2_Missense_Mutation_p.E53G|DKK3_uc001mjw.2_Missense_Mutation_p.E53G|DKK3_uc010rcg.1_Missense_Mutation_p.E53G|DKK3_uc001mjx.2_Missense_Mutation_p.E53G	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	53	Potential.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TTCCTCAACCTCGCGGAACAT	0.692													C	12029972	T	C	12029972	3	2	265	1	0	0	0	0	1	0	0	0	4546	1551	54	3	922	3	DKK3	11	12029972	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	5367608	12029972	122976544	510	131799											
MYOD1	4654	broad.mit.edu	37	chr11	17741442	17741442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacccgtgtttcgactcccCggacctgcgcttcttcgaag	10	16	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:17741442C>T	uc001mni.2	+	1	333	c.113C>T	c.(112-114)CCG>CTG	p.P38L		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	38					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	p.P38P(1)		breast(2)|ovary(1)	3						TTCGACTCCCCGGACCTGCGC	0.667													T	17741442	C	T	17741442	3	4	265	1	0	0	0	0	1	0	0	0	10088	652	23	1	115	1	MYOD1	11	17741442	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5711470	17741442	117265074	511	131800											
CD44	960	broad.mit.edu	37	chr11	35229751	35229751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctctttcaatgacaaCgcgtaagaataacgatgctc	8	10	2	2	rs147167567		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:35229751C>T	uc001mvu.2	+	12	1948	c.1514C>T	c.(1513-1515)ACG>ATG	p.T505M	CD44_uc001mvv.2_Missense_Mutation_p.T462M|CD44_uc001mvw.2_Missense_Mutation_p.T256M|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.T69M|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Missense_Mutation_p.T33M	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	505	Extracellular (Potential).|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			pancreas(1)	1	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)	TCAATGACAACGCGTAAGAAT	0.448													T	35229751	C	T	35229751	3	4	265	1	0	0	0	0	1	0	0	0	3017	536	19	1	1560	1	CD44	11	35229751	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	17488309	35229751	99776765	512	131801											
C11orf94	143678	broad.mit.edu	37	chr11	45928442	45928442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaggccggaaagtggCtgcgagagttccaggggggc	17	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:45928442C>T	uc001nbs.3	-	2	190	c.153G>A	c.(151-153)CAG>CAA	p.Q51Q		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	hypothetical protein LOC143678	51						extracellular region					0						CGGAAAGTGGCTGCGAGAGTT	0.627													T	45928442	C	T	45928442	2	4	265	1	0	0	0	0	0	0	0	1	1673	796	28	2		2	C11orf94	11	45928442	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	10698691	45928442	89078074	513	131802											
ACP2	53	broad.mit.edu	37	chr11	47266285	47266285	+	Splice_Site	DEL	C	C	-													cacgctgtccttgtcactcaCccccctgaagccgggccttc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:47266285delC	uc001nei.2	-	7	889	c.772_splice	c.e7+1	p.G258_splice	ACP2_uc010rhe.1_Splice_Site_p.G230_splice|ACP2_uc009ylj.2_Splice_Site_p.G186_splice|ACP2_uc010rhf.1_Splice_Site_p.G226_splice|ACP2_uc010rhg.1_Splice_Site_p.G195_splice|ACP2_uc010rhh.1_Splice_Site_p.G71_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1							integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						TTGTCACTCACCCCCCTGAAG	0.562													-	47266285	C	-	47266285	8	5	265	1	0	1	0	1	0	0	1	0	163	521	18	0	518	0	ACP2	11	47266285	Splice_Site	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	1337843	47266285	87740231	514	131803											
PTPRJ	5795	broad.mit.edu	37	chr11	48149450	48149450	+	Frame_Shift_Del	DEL	G	G	-													acctacaagatacatgtggcGggggagacagattcttccaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:48149449_48149449CG>C	uc001ngp.4	+	6	1566	c.1211_1211CG>C	c.(1210-1212)gcgfs	p.A404fs	PTPRJ_uc001ngo.4_Frame_Shift_Del_p.A404fs	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	404	Fibronectin type-III 4.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|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 platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|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						ATACATGTGGCGGGGGAGACA	0.532													-	48149450	G	-	48149450	7	5	265	1	0	1	0	1	0	0	0	0	12804	1103	39	0	1238	0	PTPRJ	11	48149450	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	883165	48149450	86857066	515	131804											
PTPRJ	5795	broad.mit.edu	37	chr11	48177606	48177606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactttgaaagatttttggCgtatggtttgggagaaaaat	11	3	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:48177606C>T	uc001ngp.3	+	21	3728	c.3373C>T	c.(3373-3375)CGT>TGT	p.R1125C		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1125	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				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)|kidney(3)|ovary(1)|skin(1)	8						AGATTTTTGGCGTATGGTTTG	0.333													T	48177606	C	T	48177606	3	4	265	1	0	0	0	0	1	0	0	0	12804	768	27	1	3464	1	PTPRJ	11	48177606	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	28156	48177606	86828910	516	131805											
OR4B1	119765	broad.mit.edu	37	chr11	48239219	48239219	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccccatcatttacacActcaggaatgcagaggtgaa	8	11	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:48239219A>T	uc010rhs.1	+	1	858	c.858A>T	c.(856-858)ACA>ACT	p.T286T		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						TCATTTACACACTCAGGAATG	0.443													T	48239219	A	T	48239219	2	4	265	1	0	0	0	0	0	0	0	1	11044	146	6	5		5	OR4B1	11	48239219	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	61613	48239219	86767297	517	131806											
OR5L2	26338	broad.mit.edu	37	chr11	55595253	55595253	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctaccccctctcctaagtCttgcttgctctgatgtcact	5	15	5	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:55595253C>T	uc001nhy.1	+	1	559	c.559C>T	c.(559-561)CTT>TTT	p.L187F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				TCTCCTAAGTCTTGCTTGCTC	0.458										HNSCC(27;0.073)			T	55595253	C	T	55595253	3	4	265	1	0	0	0	0	1	0	0	0	11171	913	32	4	561	4	OR5L2	11	55595253	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7356034	55595253	79411263	518	131807											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57070273	57070273	+	Frame_Shift_Del	DEL	G	G	-													ggccctgggagccggagggtGgggggcgggccgggcacctg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:57070273delG	uc001njr.2	-	6	4655	c.4343delC	c.(4342-4344)CCAfs	p.P1448fs	TNKS1BP1_uc001njp.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njq.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njs.2_Frame_Shift_Del_p.P1448fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1448	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GCCGGAGGGTGGGGGGCGGGC	0.682													-	57070273	G	-	57070273	7	5	265	1	0	1	0	1	0	0	0	0	16317	1348	47	0	866	0	TNKS1BP1	11	57070273	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	1475020	57070273	77936243	519	131808											
OR1S2	219958	broad.mit.edu	37	chr11	57971241	57971241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcagagggtggcagatcGccacaaagtggtcgaaggcc	15	9	1	2	rs149153142		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:57971241G>A	uc010rkb.1	-	1	413	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				GTGGCAGATCGCCACAAAGTG	0.458													A	57971241	G	A	57971241	3	1	265	1	0	0	0	0	1	0	0	0	10973	1087	38	1	567	1	OR1S2	11	57971241	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	900968	57971241	77035275	520	131809											
OR5B21	219968	broad.mit.edu	37	chr11	58275210	58275210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgaagaggcctacatacCgctgcatggcgatcataggc	11	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:58275210C>T	uc010rki.1	-	1	369	c.369G>A	c.(367-369)GCG>GCA	p.A123A		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTACATACCGCTGCATGGC	0.532													T	58275210	C	T	58275210	2	4	265	1	0	0	0	0	0	0	0	1	11151	639	23	1		1	OR5B21	11	58275210	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	303969	58275210	76731306	521	131810											
OR4D9	390199	broad.mit.edu	37	chr11	59282706	59282706	+	Frame_Shift_Del	DEL	G	G	-													atgttcttcttccaccttctGgggggagcagacgttttttc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:59282706delG	uc010rkv.1	+	1	321	c.321delG	c.(319-321)CTGfs	p.L107fs		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCCACCTTCTGGGGGGAGCAG	0.488													-	59282706	G	-	59282706	7	5	265	1	0	1	0	1	0	0	0	0	11059	1335	47	0	323	0	OR4D9	11	59282706	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	1007496	59282706	75723810	522	131811											
CCDC86	79080	broad.mit.edu	37	chr11	60617781	60617781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagccgccccagcagCcggcagccaagatctgagct	12	15	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:60617781C>T	uc001nqa.2	+	4	1235	c.1066C>T	c.(1066-1068)CCG>TCG	p.P356S	CCDC86_uc001nqb.2_Missense_Mutation_p.P100S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	356					interspecies interaction between organisms	nucleus					0						GCCCCAGCAGCCGGCAGCCAA	0.642													T	60617781	C	T	60617781	3	4	265	1	0	0	0	0	1	0	0	0	2861	739	26	2	1080	2	CCDC86	11	60617781	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1335075	60617781	74388735	523	131812											
DAGLA	747	broad.mit.edu	37	chr11	61511877	61511877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagccaggaatgcctggcGgctgacaagatccggacttc	13	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:61511877G>A	uc001nsa.2	+	20	3156	c.3045G>A	c.(3043-3045)GCG>GCA	p.A1015A		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	1015	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		AATGCCTGGCGGCTGACAAGA	0.652													A	61511877	G	A	61511877	2	1	265	1	0	0	0	0	0	0	0	1	4226	1103	39	1		1	DAGLA	11	61511877	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	894096	61511877	73494639	524	131813											
AHNAK	79026	broad.mit.edu	37	chr11	62289568	62289568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttcagtttcccttctggAccatgaatatcaatatcagg	6	12	4	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:62289568A>G	uc001ntl.2	-	5	12621	c.12321T>C	c.(12319-12321)GGT>GGC	p.G4107G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4107					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCCCTTCTGGACCATGAATAT	0.468													G	62289568	A	G	62289568	2	3	265	1	0	0	0	0	0	0	0	1	414	262	10	3		3	AHNAK	11	62289568	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	777691	62289568	72716948	525	131814											
EML3	256364	broad.mit.edu	37	chr11	62377121	62377121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaattgtaattgctcctcCgagatccagggcccccaggg	10	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:62377121C>A	uc001ntu.1	-	5	922	c.614G>T	c.(613-615)CGG>CTG	p.R205L	EML3_uc001ntr.1_Missense_Mutation_p.R177L|EML3_uc001nts.1_Missense_Mutation_p.R177L|EML3_uc001ntt.1_Missense_Mutation_p.R89L|EML3_uc010rly.1_Missense_Mutation_p.R205L|EML3_uc009yny.1_5'UTR	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	205						cytoplasm|microtubule	protein binding			ovary(1)	1						ATTGCTCCTCCGAGATCCAGG	0.547													A	62377121	C	A	62377121	3	1	265	1	0	0	0	0	1	0	0	0	5098	652	23	5	2148	5	EML3	11	62377121	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	87553	62377121	72629395	526	131815											
C11orf48	79081	broad.mit.edu	37	chr11	62435132	62435134	+	In_Frame_Del	DEL	TCT	TCT	-													cctcaagaatccaacaagcaTcttcttcatcctggtcctgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:62435132_62435134delTCT	uc001nue.2	-	4	834_836	c.399_401delAGA	c.(397-402)GAAGAT>GAT	p.E133del	C11orf48_uc001nuf.2_In_Frame_Del_p.E133del|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_In_Frame_Del_p.E133del	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	159											0						CCAACAAGCATCTTCTTCATCCT	0.537													-	62435134	TCT	-	62435132	7	5	265	1	0	1	0	1	0	0	0	0	1644	1435	50	0	406	0	C11orf48	11	62435132	In_Frame_Del	DEL	TCT	TCGA-HU-A4G9-01A-11D-A24D-08	58011	62435132	72571384	527	131816											
ATL3	25923	broad.mit.edu	37	chr11	63420050	63420050	+	Splice_Site	DEL	A	A	-													catcagaacaactgcaacctAaaaaaaaggaaaatacaaac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373													-	63420050	A	-	63420050	8	5	265	1	0	1	0	1	0	0	1	0	1108	377	13	0		0	ATL3	11	63420050	Splice_Site	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	984918	63420050	71586466	528	131817											
FERMT3	83706	broad.mit.edu	37	chr11	63987213	63987213	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gactctggtcctcccataggAcagcctcaccaccatcccag	7	18	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:63987213A>T	uc001nyl.2	+	9	1180	c.1031A>T	c.(1030-1032)GAC>GTC	p.D344V	FERMT3_uc001nym.2_Missense_Mutation_p.D344V	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	344	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CTCCCATAGGACAGCCTCACC	0.627													T	63987213	A	T	63987213	3	4	265	1	0	0	0	0	1	0	0	0	5819	289	10	5	1061	5	FERMT3	11	63987213	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	567163	63987213	71019303	529	131818											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594015	64594015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctggacagggatgtccagGgtttcctcttcactgctcca	11	13	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:64594015G>T	uc001obs.3	-	36	4526	c.4526C>A	c.(4525-4527)CCC>CAC	p.P1509H		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1509					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			lung(3)|central_nervous_system(1)	4						GGATGTCCAGGGTTTCCTCTT	0.587													T	64594015	G	T	64594015	3	4	265	1	0	0	0	0	1	0	0	0	3074	1232	43	5	137	5	CDC42BPG	11	64594015	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	606802	64594015	70412501	530	131819											
ATG2A	23130	broad.mit.edu	37	chr11	64675299	64675299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcacttccaggctgcagcGggacagtgccagggtccggc	15	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:64675299G>A	uc001obx.2	-	17	2543	c.2428C>T	c.(2428-2430)CGC>TGC	p.R810C		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	810							protein binding			ovary(1)|central_nervous_system(1)	2						AGGCTGCAGCGGGACAGTGCC	0.602													A	64675299	G	A	64675299	3	1	265	1	0	0	0	0	1	0	0	0	1093	1116	39	1	3488	1	ATG2A	11	64675299	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	81284	64675299	70331217	531	131820											
KAT5	10524	broad.mit.edu	37	chr11	65482143	65482143	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccacaggaactcaccacaTtgcctgtcctctacctgtgc	6	17	2	0	rs114058675	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:65482143T>C	uc001ofi.2	+	8	1019	c.769T>C	c.(769-771)TTG>CTG	p.L257L	KAT5_uc001ofj.2_Silent_p.L205L|KAT5_uc001ofk.2_Silent_p.L290L|KAT5_uc010roo.1_Silent_p.L238L|KAT5_uc001ofl.2_Silent_p.L46L	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	257				L->A: Does not affect phosphorylation; when associated with A-254.	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				0						ACTCACCACATTGCCTGTCCT	0.577													C	65482143	T	C	65482143	2	2	265	1	0	0	0	0	0	0	0	1	7983	1490	52	3		3	KAT5	11	65482143	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	806844	65482143	69524373	532	131821											
NPAS4	266743	broad.mit.edu	37	chr11	66191381	66191381	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttatgtcctgggcactccGaccatgctgccctcattccc	8	17	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:66191381G>A	uc001ohx.1	+	7	1196	c.1020G>A	c.(1018-1020)CCG>CCA	p.P340P	NPAS4_uc010rpc.1_Silent_p.P130P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	340					transcription, DNA-dependent		DNA binding|signal transducer activity				0						TGGGCACTCCGACCATGCTGC	0.577													A	66191381	G	A	66191381	2	1	265	1	0	0	0	0	0	0	0	1	10565	1045	37	1		1	NPAS4	11	66191381	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	709238	66191381	68815135	533	131822											
TBC1D10C	374403	broad.mit.edu	37	chr11	67171768	67171768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagctcagcgggcctgGcccatatcgccaggccgacc	12	17	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:67171768G>A	uc001ola.2	+	2	124	c.95G>A	c.(94-96)GGC>GAC	p.G32D	PPP1CA_uc009yro.1_5'Flank|PPP1CA_uc001okt.1_5'Flank|PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|PPP1CA_uc001oky.2_5'Flank|TBC1D10C_uc001okz.2_Missense_Mutation_p.G32D|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	32						intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCGGGCCTGGCCCATATCGC	0.677													A	67171768	G	A	67171768	3	1	265	1	0	0	0	0	1	0	0	0	15597	1203	42	2	97	2	TBC1D10C	11	67171768	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	980387	67171768	67834748	534	131823											
GPR152	390212	broad.mit.edu	37	chr11	67218801	67218801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacgtggggcctgcgccCggggccgcctctggcggggt	18	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:67218801C>T	uc001olm.2	-	1	1400	c.1395G>A	c.(1393-1395)CCG>CCA	p.P465P	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	465	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCTGCGCCCGGGGCCGCCT	0.682													T	67218801	C	T	67218801	2	4	265	1	0	0	0	0	0	0	0	1	6658	639	23	1		1	GPR152	11	67218801	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	47033	67218801	67787715	535	131824											
PITPNM1	9600	broad.mit.edu	37	chr11	67259711	67259711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtcccgaggaggcatgCgagtgcgagcccgcttccag	18	12	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:67259711C>T	uc001olx.2	-	23	3717	c.3528G>A	c.(3526-3528)TCG>TCA	p.S1176S	PITPNM1_uc001olw.2_Silent_p.S458S|PITPNM1_uc001oly.2_Silent_p.S1176S|PITPNM1_uc001olz.2_Silent_p.S1175S	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1176					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			lung(2)|central_nervous_system(1)	3						AGGAGGCATGCGAGTGCGAGC	0.662													T	67259711	C	T	67259711	2	4	265	1	0	0	0	0	0	0	0	1	11950	755	27	1		1	PITPNM1	11	67259711	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	40910	67259711	67746805	536	131825											
SAPS3	55291	broad.mit.edu	37	chr11	68326104	68326104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtcagccatagtcagtGcaatccagatattgctgact	9	9	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:68326104G>A	uc001onw.2	+	8	1069	c.802G>A	c.(802-804)GCA>ACA	p.A268T	SAPS3_uc001onv.2_Missense_Mutation_p.A268T|SAPS3_uc001ony.3_Missense_Mutation_p.A268T|SAPS3_uc001onx.2_Missense_Mutation_p.A268T|SAPS3_uc009ysh.2_Missense_Mutation_p.A268T|SAPS3_uc001onu.2_Missense_Mutation_p.A268T|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_5'UTR	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	268					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			CATAGTCAGTGCAATCCAGAT	0.353													A	68326104	G	A	68326104	3	1	265	1	0	0	0	0	1	0	0	0	13838	1319	46	2	824	2	SAPS3	11	68326104	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1066393	68326104	66680412	537	131826											
MYEOV	26579	broad.mit.edu	37	chr11	69063724	69063724	+	Frame_Shift_Del	DEL	G	G	-													gttgtgactgttgaggccctGggggggtggcgcatgggagt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:69063724delG	uc001oov.2	+	3	1257	c.807delG	c.(805-807)CTGfs	p.L269fs	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.L269fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.L211fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	269											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TTGAGGCCCTGGGGGGGTGGC	0.597													-	69063724	G	-	69063724	7	5	265	1	0	1	0	1	0	0	0	0	10025	1335	47	0	813	0	MYEOV	11	69063724	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	737620	69063724	65942792	538	131827											
SHANK2	22941	broad.mit.edu	37	chr11	70332446	70332446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttagtggcgtccacggTgtgcaccatcagcaggccag	13	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:70332446T>C	uc001oqc.2	-	21	4030	c.3952A>G	c.(3952-3954)ACC>GCC	p.T1318A	SHANK2_uc010rqn.1_Missense_Mutation_p.T730A|SHANK2_uc001opz.2_Missense_Mutation_p.T723A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	939					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCGTCCACGGTGTGCACCATC	0.607													C	70332446	T	C	70332446	3	2	265	1	0	0	0	0	1	0	0	0	14265	1696	59	3	1605	3	SHANK2	11	70332446	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1268722	70332446	64674070	539	131828											
SHANK2	22941	broad.mit.edu	37	chr11	70332856	70332856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggctgctctcgggcCcctgggctttggacgtggaa	16	12	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:70332856C>A	uc001oqc.2	-	21	3620	c.3542G>T	c.(3541-3543)GGG>GTG	p.G1181V	SHANK2_uc010rqn.1_Missense_Mutation_p.G593V|SHANK2_uc001opz.2_Missense_Mutation_p.G586V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	802					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTCTCGGGCCCCTGGGCTTT	0.692													A	70332856	C	A	70332856	3	1	265	1	0	0	0	0	1	0	0	0	14265	623	22	5	2015	5	SHANK2	11	70332856	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	410	70332856	64673660	540	131829											
PDE2A	5138	broad.mit.edu	37	chr11	72295734	72295734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggtcgccacgtgtccCgcgatgccctgatcggccgg	14	17	0	1	rs150054293	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:72295734C>T	uc010rrc.1	-	18	1641	c.1398G>A	c.(1396-1398)GCG>GCA	p.A466A	PDE2A_uc001oso.2_Silent_p.A445A|PDE2A_uc010rra.1_Silent_p.A459A|PDE2A_uc001osn.2_Silent_p.A210A|PDE2A_uc010rrb.1_Silent_p.A457A|PDE2A_uc010rrd.1_Silent_p.A351A	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	466	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCACGTGTCCCGCGATGCCCT	0.632													T	72295734	C	T	72295734	2	4	265	1	0	0	0	0	0	0	0	1	11636	639	23	1		1	PDE2A	11	72295734	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1962878	72295734	62710782	541	131830											
C2CD3	26005	broad.mit.edu	37	chr11	73811600	73811600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaactggtggaggggaAgtttcaccagcccgagcagc	14	9	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:73811600A>C	uc001ouu.2	-	15	2929	c.2702T>G	c.(2701-2703)CTT>CGT	p.L901R		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	901						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTGGAGGGGAAGTTTCACCAG	0.418													C	73811600	A	C	73811600	3	2	265	1	0	0	0	0	1	0	0	0	2154	72	3	5	3257	5	C2CD3	11	73811600	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1515866	73811600	61194916	542	131831											
XRRA1	143570	broad.mit.edu	37	chr11	74563070	74563070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggttgttatgaaagaCgaactcgcagagagatggga	15	5	0	5			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:74563070C>T	uc009yub.2	-	13	1536	c.1204G>A	c.(1204-1206)GTC>ATC	p.V402I	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.V25I|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.V127I|XRRA1_uc001ovr.2_Missense_Mutation_p.V25I|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	402					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						TTATGAAAGACGAACTCGCAG	0.542													T	74563070	C	T	74563070	3	4	265	1	0	0	0	0	1	0	0	0	17458	536	19	1	1202	1	XRRA1	11	74563070	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	751470	74563070	60443446	543	131832											
SLC36A4	120103	broad.mit.edu	37	chr11	92887400	92887401	+	Frame_Shift_Ins	INS	-	-	A													aactgaattgaatatgtcacINSaaaaatgccaaaggaatata							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:92887400_92887401insA	uc001pdn.2	-	10	1177_1178	c.1080_1081insT	c.(1078-1083)TTTGTGfs	p.F360fs	SLC36A4_uc001pdm.2_Frame_Shift_Ins_p.F225fs	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	360_361	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAATATGTCACAAAAATGCCAA	0.302													A	92887401	-	A	92887400	7	5	265	1	0	1	1	0	0	0	0	0	14596	478	17	0	441	0	SLC36A4	11	92887400	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	18324330	92887400	42119116	544	131833	679	2									
SLC36A4	120103	broad.mit.edu	37	chr11	92887401	92887402	+	Frame_Shift_Ins	INS	-	-	A													actgaattgaatatgtcacaINSaaaatgccaaaggaatatag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:92887400_92887401C>CA	uc001pdn.3	-	9	1177_1178	c.1080_1081G>TG	c.(1078-1083)tttgtgfs	p.F360fs	SLC36A4_uc001pdm.3_Frame_Shift_Ins_p.F225fs	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	360					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAATATGTCACAAAAATGCCAA	0.302													A	92887402	-	A	92887401	7	5	265	1	0	1	1	0	0	0	0	0	14596	127	5	0	442	0	SLC36A4	11	92887401	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	92887401	42119115	545	131834	679	2									
MMP12	4321	broad.mit.edu	37	chr11	102743659	102743659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccctgaaatgatggacatCggggactccacatcgaggtg	12	10	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:102743659C>T	uc001phk.2	-	2	331	c.286G>A	c.(286-288)GAT>AAT	p.D96N		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	96	Cysteine switch (By similarity).				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				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGATGGACATCGGGGACTCCA	0.493													T	102743659	C	T	102743659	3	4	265	1	0	0	0	0	1	0	0	0	9651	884	31	1	1161	1	MMP12	11	102743659	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	9856258	102743659	32262857	546	131835											
DDI1	414301	broad.mit.edu	37	chr11	103908603	103908603	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaaatgtgctggtcatCggcaccactggcacgcagac	11	11	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:103908603C>T	uc001phr.2	+	1	1296	c.1053C>T	c.(1051-1053)ATC>ATT	p.I351I	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	351					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		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)		TGCTGGTCATCGGCACCACTG	0.463													T	103908603	C	T	103908603	2	4	265	1	0	0	0	0	0	0	0	1	4328	874	31	1		1	DDI1	11	103908603	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1164944	103908603	31097913	547	131836											
TTC12	54970	broad.mit.edu	37	chr11	113220807	113220807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcagattattggaagcGctggtgtcatttcttgattt	10	5	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:113220807G>A	uc001pnu.2	+	14	1272	c.1167G>A	c.(1165-1167)GCG>GCA	p.A389A	TTC12_uc001pnv.2_Silent_p.A395A|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.A239A	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	389							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TATTGGAAGCGCTGGTGTCAT	0.413													A	113220807	G	A	113220807	2	1	265	1	0	0	0	0	0	0	0	1	16676	1074	38	1		1	TTC12	11	113220807	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	9312204	113220807	21785709	548	131837											
DRD2	1813	broad.mit.edu	37	chr11	113287588	113287588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaagcagaatgtacctgCgttattgagtccgaagagga	11	7	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:113287588C>T	uc001pnz.2	-	3	850	c.529G>A	c.(529-531)GCA>ACA	p.A177T	DRD2_uc010rwv.1_Missense_Mutation_p.A176T|DRD2_uc001poa.3_Missense_Mutation_p.A177T|DRD2_uc001pob.3_Missense_Mutation_p.A177T|DRD2_uc009yyr.1_Missense_Mutation_p.A177T	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	177	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		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)	AATGTACCTGCGTTATTGAGT	0.602													T	113287588	C	T	113287588	3	4	265	1	0	0	0	0	1	0	0	0	4757	768	27	1	822	1	DRD2	11	113287588	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	66781	113287588	21718928	549	131838											
TECTA	7007	broad.mit.edu	37	chr11	120998812	120998812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggctgcttccccaagcGggagaccgtgtgcctgctca	13	15	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:120998812G>A	uc010rzo.1	+	8	2126	c.2126G>A	c.(2125-2127)CGG>CAG	p.R709Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	709					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		TTCCCCAAGCGGGAGACCGTG	0.657													A	120998812	G	A	120998812	3	1	265	1	0	0	0	0	1	0	0	0	15744	1116	39	1	2156	1	TECTA	11	120998812	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7711224	120998812	14007704	550	131839											
SORL1	6653	broad.mit.edu	37	chr11	121475876	121475876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacagctgacttctctgGggatgtgactttgacctgga	14	8	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:121475876G>A	uc001pxx.2	+	34	4786	c.4706G>A	c.(4705-4707)GGG>GAG	p.G1569E	SORL1_uc010rzp.1_Missense_Mutation_p.G415E|SORL1_uc010rzq.1_Missense_Mutation_p.G184E	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1569	Extracellular (Potential).|Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		GACTTCTCTGGGGATGTGACT	0.408													A	121475876	G	A	121475876	3	1	265	1	0	0	0	0	1	0	0	0	14934	1232	43	4	4840	4	SORL1	11	121475876	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	477064	121475876	13530640	551	131840											
FOXRED1	55572	broad.mit.edu	37	chr11	126147471	126147471	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcccctggcattgggCgagctgtagcagagatggta	16	9	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:126147471C>T	uc001qdi.2	+	11	1395	c.1348C>T	c.(1348-1350)CGA>TGA	p.R450*	FOXRED1_uc010sbn.1_Nonsense_Mutation_p.R280*|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Nonsense_Mutation_p.R263*|FOXRED1_uc010sbq.1_Nonsense_Mutation_p.R317*|FOXRED1_uc001qdj.2_Nonsense_Mutation_p.R239*|FOXRED1_uc010sbr.1_Nonsense_Mutation_p.R436*|FOXRED1_uc001qdk.2_Nonsense_Mutation_p.R239*	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	450						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TGGCATTGGGCGAGCTGTAGC	0.572													T	126147471	C	T	126147471	4	4	265	1	0	0	0	0	0	1	0	0	6033	760	27	1	1390	1	FOXRED1	11	126147471	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4671595	126147471	8859045	552	131841											
APLP2	334	broad.mit.edu	37	chr11	129992283	129992283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggaagaaggggaggAagtggtggaggaccgagatt	21	2	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:129992283A>G	uc010sby.1	+	6	954	c.797A>G	c.(796-798)GAA>GGA	p.E266G	APLP2_uc001qfp.2_Missense_Mutation_p.E266G|APLP2_uc001qfq.2_Missense_Mutation_p.E266G|APLP2_uc010sbz.1_Missense_Mutation_p.E110G|APLP2_uc001qfr.2_Missense_Mutation_p.E88G|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Missense_Mutation_p.E213G	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	266	Asp/Glu-rich (highly acidic).|Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		gaaggggaggaagtggtggag	0.358													G	129992283	A	G	129992283	3	3	265	1	0	0	0	0	1	0	0	0	779	246	9	3	819	3	APLP2	11	129992283	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3844812	129992283	5014233	553	131842											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278693	130278693	+	Frame_Shift_Del	DEL	C	C	-													aacactttgaactcgctcctCccccgggctcggcagaacaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:130278693delC	uc001qgg.3	-	7	2251	c.1893delG	c.(1891-1893)GGGfs	p.G631fs	ADAMTS8_uc001qgf.2_Frame_Shift_Del_p.G112fs	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	631	Cys-rich.				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)	1	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)		ACTCGCTCCTCCCCCGGGCTC	0.622													-	130278693	C	-	130278693	7	5	265	1	0	1	0	1	0	0	0	0	272	842	30	0	788	0	ADAMTS8	11	130278693	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	286410	130278693	4727823	554	131843											
B3GAT1	27087	broad.mit.edu	37	chr11	134253988	134253988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcgtgtacacgtactcGgtgcgcaccacctccacgat	11	16	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:134253988G>A	uc001qhq.2	-	4	468	c.207C>T	c.(205-207)ACC>ACT	p.T69T	B3GAT1_uc001qhr.2_Silent_p.T69T|B3GAT1_uc010scv.1_Silent_p.T82T	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	69	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	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)		ACACGTACTCGGTGCGCACCA	0.701													A	134253988	G	A	134253988	2	1	265	1	0	0	0	0	0	0	0	1	1253	1103	39	1		1	B3GAT1	11	134253988	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3975295	134253988	752528	555	131844											
KDM5A	5927	broad.mit.edu	37	chr12	427454	427454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataaggtcagtcttacttcGtccaaccaccgagcctgttg	9	12	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:427454G>A	uc001qif.1	-	19	3078	c.2715C>T	c.(2713-2715)GAC>GAT	p.D905D	KDM5A_uc001qie.1_Silent_p.D905D|KDM5A_uc010sdn.1_Silent_p.D864D	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	905					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			skin(2)|ovary(1)	3						GTCTTACTTCGTCCAACCACC	0.493			T 	NUP98	AML								A	427454	G	A	427454	2	1	265	1	0	0	0	0	0	0	0	1	8133	1136	40	1		1	KDM5A	12	427454	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		427454	133424441	556	131845											
NCAPD2	9918	broad.mit.edu	37	chr12	6639960	6639960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggtagccagagagcgcCatcagccaagaaaccatcca	10	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:6639960C>A	uc001qoo.2	+	30	3987	c.3941C>A	c.(3940-3942)CCA>CAA	p.P1314Q	NCAPD2_uc010sfd.1_Missense_Mutation_p.P1269Q	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1314					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CAGAGAGCGCCATCAGCCAAG	0.512													A	6639960	C	A	6639960	3	1	265	1	0	0	0	0	1	0	0	0	10205	594	21	5	4055	5	NCAPD2	12	6639960	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6212506	6639960	127211935	557	131846											
C3AR1	719	broad.mit.edu	37	chr12	8212583	8212583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagcagaggaggtccgCcaaggtgaggtggaggaacc	19	8	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:8212583C>T	uc001qtv.1	-	2	291	c.199G>A	c.(199-201)GCG>ACG	p.A67T		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	67	Helical; Name=2; (Potential).				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			ovary(1)	1				Kidney(36;0.0893)		AGGAGGTCCGCCAAGGTGAGG	0.587													T	8212583	C	T	8212583	3	4	265	1	0	0	0	0	1	0	0	0	2205	739	26	2	1253	2	C3AR1	12	8212583	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1572623	8212583	125639312	558	131847											
RIMKLB	57494	broad.mit.edu	37	chr12	8926321	8926321	+	Frame_Shift_Del	DEL	G	G	-													agctgctcaccaagctcccaGggggcctgttcaacatgaac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:8926321delG	uc001quu.2	+	6	1353	c.1102delG	c.(1102-1104)GGGfs	p.G368fs	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Frame_Shift_Del_p.G368fs|RIMKLB_uc010sgl.1_Frame_Shift_Del_p.G368fs|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	368					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CAAGCTCCCAGGGGGCCTGTT	0.512													-	8926321	G	-	8926321	7	5	265	1	0	1	0	1	0	0	0	0	13366	1000	35	0	1120	0	RIMKLB	12	8926321	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	713738	8926321	124925574	559	131848											
TAS2R14	50840	broad.mit.edu	37	chr12	11091143	11091143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgggctttggtgctggCgtctccggatattttgacag	14	8	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:11091143C>T	uc010shi.1	-	1	664	c.664G>A	c.(664-666)GCC>ACC	p.A222T	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_RNA	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	222	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						TTGGTGCTGGCGTCTCCGGAT	0.438													T	11091143	C	T	11091143	3	4	265	1	0	0	0	0	1	0	0	0	15565	768	27	1	292	1	TAS2R14	12	11091143	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2164822	11091143	122760752	560	131849											
ETV6	2120	broad.mit.edu	37	chr12	11905513	11905513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcctgcctgcgcacctgCgtgagtgttcgtgacccgag	13	15	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:11905513C>T	uc001qzz.2	+	2	437	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	55	PNT.	Breakpoint for translocation to form ETV6-MDS2 in MDS.|Breakpoint for translocation to form PAX5-ETV6.				cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TGCGCACCTGCGTGAGTGTTC	0.647			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								T	11905513	C	T	11905513	3	4	265	1	0	0	0	0	1	0	0	0	5283	782	27	1	169	1	ETV6	12	11905513	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	814370	11905513	121946382	561	131850											
GYS2	2998	broad.mit.edu	37	chr12	21712605	21712605	+	Frame_Shift_Del	DEL	T	T	-													cttaataatgcatcatagagTttttttccaaacttttcctt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:21712605delT	uc001rfb.2	-	9	1464	c.1209delA	c.(1207-1209)AAAfs	p.K403fs		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	403					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			lung(1)|skin(1)	2						CATCATAGAGTTTTTTTCCAA	0.289													-	21712605	T	-	21712605	7	5	265	1	0	1	0	1	0	0	0	0	6913	1722	60	0	934	0	GYS2	12	21712605	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	9807092	21712605	112139290	562	131851											
PKP2	5318	broad.mit.edu	37	chr12	33031037	33031039	+	In_Frame_Del	DEL	CTC	CTC	-													agccctgccgtcaggtagttCtccttctccaagaggttgcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:33031036_33031038TCTC>T	uc001rlj.4	-	2	891_893	c.776_778GAGA>A	c.(775-780)gagaac>gAac	p.N260del	PKP2_uc001rlk.4_In_Frame_Del_p.N260del|PKP2_uc010skj.2_In_Frame_Del_p.N260del	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	260					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)					GTCAGGTAGTTCTCCTTCTCCAA	0.64													-	33031039	CTC	-	33031037	7	5	265	1	0	1	0	1	0	0	0	0	11985	912	32	0	1916	0	PKP2	12	33031037	In_Frame_Del	DEL	CTC	TCGA-HU-A4G9-01A-11D-A24D-08	11318432	33031037	100820858	563	131852											
SYT10	341359	broad.mit.edu	37	chr12	33592643	33592643	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcgggagcggagggcGtaggggaaggagaggcgcgc	23	8	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:33592643G>A	uc001rll.1	-	1	112	c.-185C>T	c.(-187--183)TACGC>TATGC		SYT10_uc009zju.1_Translation_Start_Site	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X							cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGCGGAGGGCGTAGGGGAAGG	0.701													A	33592643	G	A	33592643	1	1	265	1	0	0	0	0	0	0	0	0	15463	1160	40	1		1	SYT10	12	33592643	Translation_Start_Site	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	561606	33592643	100259252	564	131853											
ZCRB1	85437	broad.mit.edu	37	chr12	42707703	42707703	+	Frame_Shift_Del	DEL	T	T	-													cttctggttcaggagctttcTtttttttctttttttctttc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:42707703delT	uc001rmz.2	-	6	628	c.419delA	c.(418-420)AAGfs	p.K140fs	PPHLN1_uc001rmy.2_Intron	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	140	Poly-Lys.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			skin(1)	1	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AGGAGCTTTCTTTTTTTTCTT	0.343													-	42707703	T	-	42707703	7	5	265	1	0	1	0	1	0	0	0	0	17593	1609	56	0	246	0	ZCRB1	12	42707703	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	9115060	42707703	91144192	565	131854											
ANO6	196527	broad.mit.edu	37	chr12	45740868	45740868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttagaagcaacaagaTcagtaagtactggtcccttt	9	8	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:45740868T>C	uc001roo.2	+	4	678	c.343T>C	c.(343-345)TCA>CCA	p.S115P	ANO6_uc010sld.1_Missense_Mutation_p.S115P|ANO6_uc010sle.1_Missense_Mutation_p.S115P|ANO6_uc010slf.1_Missense_Mutation_p.S136P|ANO6_uc010slg.1_Missense_Mutation_p.S97P	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	115	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						AGCAACAAGATCAGTAAGTAC	0.458													C	45740868	T	C	45740868	3	2	265	1	0	0	0	0	1	0	0	0	701	1435	50	3	377	3	ANO6	12	45740868	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	3033165	45740868	88111027	566	131855											
ENDOU	8909	broad.mit.edu	37	chr12	48106392	48106392	+	Frame_Shift_Del	DEL	T	T	-													tggaagccagtaaccttgccTttttttacctcacctataat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:48106392delT	uc001rpu.1	-	8	1033	c.879delA	c.(877-879)AAAfs	p.K293fs	ENDOU_uc010sll.1_Frame_Shift_Del_p.K59fs|ENDOU_uc001rpt.1_Frame_Shift_Del_p.K252fs|ENDOU_uc010slm.1_Frame_Shift_Del_p.K230fs	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	293					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						TAACCTTGCCTTTTTTTACCT	0.502													-	48106392	T	-	48106392	7	5	265	1	0	1	0	1	0	0	0	0	5116	1606	56	0	365	0	ENDOU	12	48106392	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	2365524	48106392	85745503	567	131856											
FKBP11	51303	broad.mit.edu	37	chr12	49317602	49317602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccccgttttccataggcCaagtgagaaggaatgattgc	10	9	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:49317602C>A	uc001rsp.2	-	5	470	c.351G>T	c.(349-351)TTG>TTT	p.L117F	FKBP11_uc010sma.1_Missense_Mutation_p.L15F|FKBP11_uc001rsq.3_3'UTR|FKBP11_uc010smb.1_Missense_Mutation_p.L117F	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	117	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TTCCATAGGCCAAGTGAGAAG	0.522													A	49317602	C	A	49317602	3	1	265	1	0	0	0	0	1	0	0	0	5903	593	21	5	319	5	FKBP11	12	49317602	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1211210	49317602	84534293	568	131857											
ESPL1	9700	broad.mit.edu	37	chr12	53685483	53685483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccctgcagatcatgctcAgtggtgccggtgccctcacc	10	15	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:53685483A>G	uc001sck.2	+	26	5621	c.5530A>G	c.(5530-5532)AGT>GGT	p.S1844G	ESPL1_uc001scj.2_Missense_Mutation_p.S1519G	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1844					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			lung(1)|kidney(1)|skin(1)	3						GATCATGCTCAGTGGTGCCGG	0.562													G	53685483	A	G	53685483	3	3	265	1	0	0	0	0	1	0	0	0	5253	188	7	3	5628	3	ESPL1	12	53685483	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	4367881	53685483	80166412	569	131858											
PCBP2	5094	broad.mit.edu	37	chr12	53861054	53861054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtctcattttcccatgaCgcatggcaacaccggattca	7	13	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:53861054C>T	uc001sdl.3	+	11	1126	c.776C>T	c.(775-777)ACG>ATG	p.T259M	PCBP2_uc001sdc.3_Missense_Mutation_p.T259M|PCBP2_uc001sdb.3_Missense_Mutation_p.T255M|PCBP2_uc001sde.3_Missense_Mutation_p.T255M|PCBP2_uc001sdi.3_Missense_Mutation_p.T228M|PCBP2_uc001sdd.3_Missense_Mutation_p.T224M|PCBP2_uc001sdf.3_Missense_Mutation_p.T224M|PCBP2_uc009zna.2_Missense_Mutation_p.T216M|PCBP2_uc010soi.1_Missense_Mutation_p.T9M|PCBP2_uc001sdj.3_Missense_Mutation_p.T9M|PCBP2_uc010soj.1_Missense_Mutation_p.T9M|PCBP2_uc001sdk.3_Missense_Mutation_p.T44M|PCBP2_uc010soh.1_Missense_Mutation_p.T255M	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d	259					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0						TTTCCCATGACGCATGGCAAC	0.488													T	53861054	C	T	53861054	3	4	265	1	0	0	0	0	1	0	0	0	11501	536	19	1	814	1	PCBP2	12	53861054	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	175571	53861054	79990841	570	131859											
TARBP2	6895	broad.mit.edu	37	chr12	53897560	53897560	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttttactgctgcagcagcTgctaccccagttccatctgt	8	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:53897560T>A	uc001sdo.2	+	4	878	c.390T>A	c.(388-390)GCT>GCA	p.A130A	TARBP2_uc009znb.2_Silent_p.A130A|TARBP2_uc001sdp.2_Silent_p.A109A|TARBP2_uc001sdq.2_5'UTR|TARBP2_uc001sdr.2_5'UTR|TARBP2_uc001sds.2_Silent_p.A130A|TARBP2_uc001sdt.2_Silent_p.A109A|TARBP2_uc001sdu.2_5'UTR|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	130					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)	1						CTGCAGCAGCTGCTACCCCAG	0.542													A	53897560	T	A	53897560	2	1	265	1	0	0	0	0	0	0	0	1	15553	1567	55	5		5	TARBP2	12	53897560	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	36506	53897560	79954335	571	131860											
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		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	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517													A	56478854	G	A	56478854	3	1	265	1	0	0	0	0	1	0	0	0	5208	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2581294	56478854	77373041	572	131861											
ESYT1	23344	broad.mit.edu	37	chr12	56526318	56526318	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacttgtgcgtttgggtacCcagacattctgcagtcgtgt	12	10	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:56526318C>A	uc001sjq.2	+	9	1148	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	ESYT1_uc001sjr.2_Silent_p.T366T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	366	C2 1.					integral to membrane				ovary(4)|skin(1)	5						GTTTGGGTACCCAGACATTCT	0.522													A	56526318	C	A	56526318	2	1	265	1	0	0	0	0	0	0	0	1	5264	610	22	5		5	ESYT1	12	56526318	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	47464	56526318	77325577	573	131862											
STAT2	6773	broad.mit.edu	37	chr12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G													gcaagctccagggggccttgINSggggggttggagaagaactg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|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	DNA binding|calcium ion 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						CAGGGGGCCTTGGGGGGGTTGG	0.594													G	56742818	-	G	56742817	7	5	265	1	0	1	1	0	0	0	0	0	15264	1335	47	0	1120	0	STAT2	12	56742817	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	216499	56742817	77109078	574	131863											
BEST3	144453	broad.mit.edu	37	chr12	70070963	70070963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaagtatttcttacctgGgtgtaaaccagcggaatccc	9	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:70070963G>A	uc001svg.2	-	6	938	c.711C>T	c.(709-711)ACC>ACT	p.T237T	BEST3_uc001svd.1_Silent_p.T237T|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Silent_p.T75T|BEST3_uc010stm.1_Silent_p.T131T|BEST3_uc001svh.2_Silent_p.T75T	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	237						chloride channel complex|plasma membrane	chloride channel activity				0	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)			TTCTTACCTGGGTGTAAACCA	0.483													A	70070963	G	A	70070963	2	1	265	1	0	0	0	0	0	0	0	1	1406	1219	43	4		4	BEST3	12	70070963	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	13328146	70070963	63780932	575	131864											
CAPS2	84698	broad.mit.edu	37	chr12	75692669	75692669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctatttttcccaaattgtCgatattcataaattgtaagg	5	7	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:75692669C>T	uc001sxk.3	-	11	1186	c.989G>A	c.(988-990)CGA>CAA	p.R330Q	CAPS2_uc001sxm.3_Missense_Mutation_p.R98Q|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.R311Q	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	330							calcium ion binding			ovary(2)	2						CCCAAATTGTCGATATTCATA	0.338													T	75692669	C	T	75692669	3	4	265	1	0	0	0	0	1	0	0	0	2638	884	31	1	716	1	CAPS2	12	75692669	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5621706	75692669	58159226	576	131865											
PPP1R12A	4659	broad.mit.edu	37	chr12	80190590	80190590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttttgttattcctctGgagtaagcagaagttatgcc	8	7	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:80190590G>A	uc001syz.2	-	17	2700	c.2433C>T	c.(2431-2433)TCC>TCT	p.S811S	PPP1R12A_uc010suc.1_Silent_p.S724S|PPP1R12A_uc001sza.2_Silent_p.S755S|PPP1R12A_uc010sud.1_Silent_p.S811S|PPP1R12A_uc001szb.2_Silent_p.S811S	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	811	Interaction with ROCK2.					contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TTATTCCTCTGGAGTAAGCAG	0.353													A	80190590	G	A	80190590	2	1	265	1	0	0	0	0	0	0	0	1	12354	1335	47	4		4	PPP1R12A	12	80190590	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4497921	80190590	53661305	577	131866											
ANKS1B	56899	broad.mit.edu	37	chr12	99837450	99837450	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgccattctgggcacttaCctggggtcgaatgactttta	11	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:99837450C>A	uc001tge.1	-	11	1992	c.1575_splice	c.e11+1	p.Q525_splice	ANKS1B_uc001tgf.1_Splice_Site_p.Q105_splice|ANKS1B_uc009ztt.1_Splice_Site_p.Q491_splice	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		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)		TGGGCACTTACCTGGGGTCGA	0.413													A	99837450	C	A	99837450	5	1	265	1	0	0	0	0	0	0	1	0	689	521	18	5	2522	5	ANKS1B	12	99837450	Splice_Site	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	19646860	99837450	34014445	578	131867											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100441791	100441791	+	Frame_Shift_Del	DEL	A	A	-													ttgcaacagtttcatcttccAaaaaatgttgaatattcata							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:100441791delA	uc001tgq.2	-	18	4131	c.3902delT	c.(3901-3903)TTGfs	p.L1301fs	UHRF1BP1L_uc001tgp.2_Frame_Shift_Del_p.L951fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1301										ovary(2)	2						TTCATCTTCCAAAAAATGTTG	0.274													-	100441791	A	-	100441791	7	5	265	1	0	1	0	1	0	0	0	0	16966	131	5	0	508	0	UHRF1BP1L	12	100441791	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	604341	100441791	33410104	579	131868											
SCYL2	55681	broad.mit.edu	37	chr12	100732521	100732521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaggattcaacatgccCgttaatacaaaccagaactt	5	11	2	1	rs149703920		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:100732521C>T	uc001thn.2	+	18	2411	c.2361C>T	c.(2359-2361)CCC>CCT	p.P787P		NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	787	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			lung(3)|ovary(2)|skin(1)	6						TCAACATGCCCGTTAATACAA	0.408													T	100732521	C	T	100732521	2	4	265	1	0	0	0	0	0	0	0	1	13948	639	23	1		1	SCYL2	12	100732521	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	290730	100732521	33119374	580	131869											
NR1H4	9971	broad.mit.edu	37	chr12	100957258	100957258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgtgaaatctgggaCgtgcagtgatggggattaca	13	7	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:100957258C>T	uc001tht.1	+	9	1480	c.1452C>T	c.(1450-1452)GAC>GAT	p.D484D	NR1H4_uc001thp.1_Silent_p.D470D|NR1H4_uc001thq.1_Silent_p.D474D|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.D474D|NR1H4_uc010svk.1_Silent_p.D423D|NR1H4_uc001ths.1_Silent_p.D480D	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	484					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			ovary(1)|lung(1)|skin(1)	3						AAATCTGGGACGTGCAGTGAT	0.433													T	100957258	C	T	100957258	2	4	265	1	0	0	0	0	0	0	0	1	10619	535	19	1		1	NR1H4	12	100957258	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	224737	100957258	32894637	581	131870											
ANO4	121601	broad.mit.edu	37	chr12	101488050	101488050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctctatgaaaaagttgCcctgcttctgacgaatttag	8	9	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:101488050C>T	uc010svm.1	+	18	2290	c.1718C>T	c.(1717-1719)GCC>GTC	p.A573V	ANO4_uc001thw.2_Missense_Mutation_p.A538V|ANO4_uc001thx.2_Missense_Mutation_p.A573V|ANO4_uc001thy.2_Missense_Mutation_p.A93V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	573	Extracellular (Potential).					chloride channel complex	chloride channel activity	p.T573I(1)		ovary(4)|skin(2)	6						GAAAAAGTTGCCCTGCTTCTG	0.338										HNSCC(74;0.22)			T	101488050	C	T	101488050	3	4	265	1	0	0	0	0	1	0	0	0	699	739	26	2	1675	2	ANO4	12	101488050	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	530792	101488050	32363845	582	131871											
MYBPC1	4604	broad.mit.edu	37	chr12	102046519	102046519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattatgtatttgcaccTgatgcctacaatgttactct	8	8	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:102046519T>C	uc001tii.2	+	15	1617	c.1515T>C	c.(1513-1515)CCT>CCC	p.P505P	MYBPC1_uc001tig.2_Silent_p.P530P|MYBPC1_uc010svq.1_Silent_p.P492P|MYBPC1_uc001tih.2_Silent_p.P530P|MYBPC1_uc001tij.2_Silent_p.P505P|MYBPC1_uc010svr.1_Silent_p.P505P|MYBPC1_uc010svs.1_Silent_p.P505P|MYBPC1_uc010svt.1_Silent_p.P493P|MYBPC1_uc010svu.1_Silent_p.P486P|MYBPC1_uc001tik.2_Silent_p.P479P	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	505	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						TATTTGCACCTGATGCCTACA	0.363													C	102046519	T	C	102046519	2	2	265	1	0	0	0	0	0	0	0	1	10011	1567	55	3		3	MYBPC1	12	102046519	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	558469	102046519	31805376	583	131872											
PMCH	5367	broad.mit.edu	37	chr12	102591346	102591346	+	Frame_Shift_Del	DEL	T	T	-													tcatgaaactgctctcatcaTttttatattgttccagggaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:102591346delT	uc001tjl.2	-	1	269	c.203delA	c.(202-204)AATfs	p.N68fs		NM_002674	NP_002665	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	68					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity				0						GCTCTCATCATTTTTATATTG	0.343													-	102591346	T	-	102591346	7	5	265	1	0	1	0	1	0	0	0	0	12131	1493	52	0	306	0	PMCH	12	102591346	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	544827	102591346	31260549	584	131873											
DAO	1610	broad.mit.edu	37	chr12	109283288	109283289	+	Frame_Shift_Ins	INS	-	-	C													ctgggatttcggaagctgacINSccccagagagctggatatgt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:109283287_109283288A>AC	uc001tnr.4	+	3	1023_1024	c.352_353A>AC	c.(352-354)accfs	p.T118fs	DAO_uc001tnq.4_Intron|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	118					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			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						TCGGAAGCTGACCCCCAGAGAG	0.52													C	109283289	-	C	109283288	7	5	265	1	0	1	1	0	0	0	0	0	4231	507	18	0	363	0	DAO	12	109283288	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	6691942	109283288	24568607	585	131874											
UBE3B	89910	broad.mit.edu	37	chr12	109935661	109935661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcagacaatctgattcGgccgttcctcatccacatca	6	14	4	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:109935661G>A	uc001top.2	+	10	1355	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	UBE3B_uc001toq.2_Missense_Mutation_p.R251Q|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R251Q	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	251					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AATCTGATTCGGCCGTTCCTC	0.517													A	109935661	G	A	109935661	3	1	265	1	0	0	0	0	1	0	0	0	16877	1116	39	1	782	1	UBE3B	12	109935661	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	652373	109935661	23916234	586	131875											
ATP2A2	488	broad.mit.edu	37	chr12	110778544	110778544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgtgaagctgtgccgGcaagcaggcatccgggtcat	13	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:110778544G>A	uc001tqk.3	+	14	2405	c.1842G>A	c.(1840-1842)CGG>CGA	p.R614R	ATP2A2_uc001tql.3_Silent_p.R614R|ATP2A2_uc010sxy.1_Silent_p.R587R	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	614	Cytoplasmic (By similarity).				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			ovary(3)|skin(1)	4						AGCTGTGCCGGCAAGCAGGCA	0.577													A	110778544	G	A	110778544	2	1	265	1	0	0	0	0	0	0	0	1	1137	1190	42	2		2	ATP2A2	12	110778544	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	842883	110778544	23073351	587	131876											
C12orf51	283450	broad.mit.edu	37	chr12	112681729	112681729	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaccaatcatttccaggTcagaaggagctgacatgctg	9	10	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:112681729T>G	uc009zwc.2	-	23	3350	c.3332A>C	c.(3331-3333)GAC>GCC	p.D1111A		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CATTTCCAGGTCAGAAGGAGC	0.428													G	112681729	T	G	112681729	3	3	265	1	0	0	0	0	1	0	0	0	1696	1667	58	5	8846	5	C12orf51	12	112681729	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1903185	112681729	21170166	588	131877											
OAS3	4940	broad.mit.edu	37	chr12	113405292	113405292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacagctacagcaatgCgggcgagtactccacctgct	9	15	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:113405292C>T	uc001tug.2	+	13	2846	c.2759C>T	c.(2758-2760)GCG>GTG	p.A920V		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	920	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						TACAGCAATGCGGGCGAGTAC	0.577													T	113405292	C	T	113405292	3	4	265	1	0	0	0	0	1	0	0	0	10801	768	27	1	2809	1	OAS3	12	113405292	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	723563	113405292	20446603	589	131878											
LHX5	64211	broad.mit.edu	37	chr12	113905192	113905192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgctcagctgtttcatcCggcgttctttggaccgtcgg	14	12	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:113905192C>T	uc001tvj.1	-	4	1284	c.710G>A	c.(709-711)CGG>CAG	p.R237Q		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	237	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGTTTCATCCGGCGTTCTTT	0.652													T	113905192	C	T	113905192	3	4	265	1	0	0	0	0	1	0	0	0	8774	652	23	1	506	1	LHX5	12	113905192	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	499900	113905192	19946703	590	131879											
RBM19	9904	broad.mit.edu	37	chr12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcctgaaggccttgCgggcctccaggggctccagg	15	14	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:114377796C>T	uc009zwi.2	-	15	2051	c.1907G>A	c.(1906-1908)CGC>CAC	p.R636H	RBM19_uc001tvn.3_Missense_Mutation_p.R636H|RBM19_uc001tvm.2_Missense_Mutation_p.R636H	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622													T	114377796	C	T	114377796	3	4	265	1	0	0	0	0	1	0	0	0	13121	768	27	1	1015	1	RBM19	12	114377796	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	472604	114377796	19474099	591	131880											
RBM19	9904	broad.mit.edu	37	chr12	114383685	114383685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctgtgcgatggcatcgGccacggcattcggccccatg	12	14	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:114383685G>A	uc009zwi.2	-	13	1718	c.1574C>T	c.(1573-1575)GCC>GTC	p.A525V	RBM19_uc001tvn.3_Missense_Mutation_p.A525V|RBM19_uc001tvm.2_Missense_Mutation_p.A525V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	525					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATGGCATCGGCCACGGCATT	0.562													A	114383685	G	A	114383685	3	1	265	1	0	0	0	0	1	0	0	0	13121	1203	42	2	1356	2	RBM19	12	114383685	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5889	114383685	19468210	592	131881											
FBXO21	23014	broad.mit.edu	37	chr12	117595815	117595815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcaccaggtagcccacCgccccgtgctgccccgggtc	12	19	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:117595815C>T	uc001twk.2	-	10	1440	c.1401G>A	c.(1399-1401)GCG>GCA	p.A467A	FBXO21_uc001twj.2_Silent_p.A460A|FBXO21_uc009zwq.2_Silent_p.A400A|FBXO21_uc001twl.1_Silent_p.A80A	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	467					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GGTAGCCCACCGCCCCGTGCT	0.532													T	117595815	C	T	117595815	2	4	265	1	0	0	0	0	0	0	0	1	5733	639	23	1		1	FBXO21	12	117595815	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3212130	117595815	16256080	593	131882											
NOS1	4842	broad.mit.edu	37	chr12	117728108	117728108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggatacttaccaatgTgctcttaaggtggagggtgt	14	6	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:117728108T>C	uc001twm.1	-	4	1662	c.976A>G	c.(976-978)ACA>GCA	p.T326A		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	326					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			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTACCAATGTGCTCTTAAGG	0.383													C	117728108	T	C	117728108	3	2	265	1	0	0	0	0	1	0	0	0	10541	1696	59	3	3432	3	NOS1	12	117728108	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	132293	117728108	16123787	594	131883											
GCN1L1	10985	broad.mit.edu	37	chr12	120575043	120575043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatcctggcacatgctcGcctttgctctcgttccctat	7	15	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:120575043G>A	uc001txo.2	-	50	6757	c.6744C>T	c.(6742-6744)GGC>GGT	p.G2248G		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2248					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATGCTCGCCTTTGCTCT	0.577													A	120575043	G	A	120575043	2	1	265	1	0	0	0	0	0	0	0	1	6299	1074	38	1		1	GCN1L1	12	120575043	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2846935	120575043	13276852	595	131884											
ULK1	8408	broad.mit.edu	37	chr12	132402065	132402066	+	Frame_Shift_Ins	INS	-	-	C													ctcccccgagcgggagcacgINScccccccagggcccccgcac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:132402065_132402066insC	uc001uje.2	+	22	2560_2561	c.2292_2293insC	c.(2290-2295)ACGCCCfs	p.T764fs		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	764_765					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			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		GCGGGAGCACGCCCCCCCAGGG	0.718													C	132402066	-	C	132402065	7	5	265	1	0	1	1	0	0	0	0	0	16972	1074	38	0	2378	0	ULK1	12	132402065	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	11827022	132402065	1449830	596	131885											
EP400	57634	broad.mit.edu	37	chr12	132504737	132504737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacggccgcccatcgccaCgttctctgccaatccggagg	12	16	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:132504737C>T	uc001ujn.2	+	21	4456	c.4421C>T	c.(4420-4422)ACG>ATG	p.T1474M	EP400_uc001ujl.2_Missense_Mutation_p.T1473M|EP400_uc001ujm.2_Missense_Mutation_p.T1474M	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1510					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CCCATCGCCACGTTCTCTGCC	0.617													T	132504737	C	T	132504737	3	4	265	1	0	0	0	0	1	0	0	0	5149	536	19	1	4500	1	EP400	12	132504737	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	102672	132504737	1347158	597	131886											
DDX51	317781	broad.mit.edu	37	chr12	132624721	132624721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacgtcgatgcctcgcGcggtggcgtccgtgctgatg	15	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:132624721G>A	uc001ujy.3	-	12	1736	c.1697C>T	c.(1696-1698)GCG>GTG	p.A566V		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	566	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	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)		GATGCCTCGCGCGGTGGCGTC	0.711													A	132624721	G	A	132624721	3	1	265	1	0	0	0	0	1	0	0	0	4369	1087	38	1	319	1	DDX51	12	132624721	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	119984	132624721	1227174	598	131887											
P2RX2	22953	broad.mit.edu	37	chr12	133197075	133197075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtacctgaagcgctgcaCgttccacgaggcctccgacc	12	16	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:133197075C>T	uc001ukj.1	+	7	680	c.680C>T	c.(679-681)ACG>ATG	p.T227M	P2RX2_uc001uki.1_Missense_Mutation_p.T227M|P2RX2_uc001ukk.1_Missense_Mutation_p.T227M|P2RX2_uc001ukl.1_Missense_Mutation_p.T203M|P2RX2_uc001ukm.1_Missense_Mutation_p.T155M|P2RX2_uc001ukn.1_Missense_Mutation_p.T135M|P2RX2_uc009zyt.1_Missense_Mutation_p.T227M|P2RX2_uc001uko.1_Silent_p.H191H	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	227	Extracellular (Potential).				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				0	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)		AAGCGCTGCACGTTCCACGAG	0.627													T	133197075	C	T	133197075	3	4	265	1	0	0	0	0	1	0	0	0	11340	536	19	1	706	1	P2RX2	12	133197075	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	572354	133197075	654820	599	131888											
GJB6	10804	broad.mit.edu	37	chr13	20797605	20797605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgatgaaagtgtgcagCgtcccccaatccattgcgct	9	16	0	1	rs150075979	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:20797605C>T	uc001umz.3	-	3	568	c.15G>A	c.(13-15)ACG>ACA	p.T5T	GJB6_uc001unc.3_Silent_p.T5T|GJB6_uc001una.3_Silent_p.T5T|GJB6_uc001und.3_Silent_p.T5T|GJB6_uc001unb.3_Silent_p.T5T	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	5	Cytoplasmic (Potential).		T -> M (in DFNA3B).		cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AAGTGTGCAGCGTCCCCCAAT	0.488													T	20797605	C	T	20797605	2	4	265	1	0	0	0	0	0	0	0	1	6412	755	27	1		1	GJB6	13	20797605	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		20797605	94372273	600	131889											
CRYL1	51084	broad.mit.edu	37	chr13	21006292	21006292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatattgcaggcggttcagAacgaagccggccacctcctt	11	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:21006292A>G	uc001une.2	-	5	661	c.582T>C	c.(580-582)GTT>GTC	p.V194V	CRYL1_uc001unf.2_Silent_p.V172V|CRYL1_uc001ung.2_Silent_p.V172V|CRYL1_uc010tcp.1_Silent_p.V68V	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	194					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		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)		GGCGGTTCAGAACGAAGCCGG	0.502													G	21006292	A	G	21006292	2	3	265	1	0	0	0	0	0	0	0	1	3920	233	9	3		3	CRYL1	13	21006292	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	208687	21006292	94163586	601	131890											
XPO4	64328	broad.mit.edu	37	chr13	21396279	21396279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacctacccattgatAgtattcagtaatccctcaat	4	10	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:21396279A>G	uc001unq.3	-	8	1026	c.990T>C	c.(988-990)ACT>ACC	p.T330T		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	330					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		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)		ACCCATTGATAGTATTCAGTA	0.403													G	21396279	A	G	21396279	2	3	265	1	0	0	0	0	0	0	0	1	17443	407	15	3		3	XPO4	13	21396279	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	389987	21396279	93773599	602	131891											
SACS	26278	broad.mit.edu	37	chr13	23905616	23905616	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaaactgtcaagtttctcAccaatcctgtaaatatcatt	3	11	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:23905616A>G	uc001uon.2	-	10	12988	c.12399T>C	c.(12397-12399)GGT>GGC	p.G4133G	SACS_uc001uoo.2_Silent_p.G3986G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4133					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CAAGTTTCTCACCAATCCTGT	0.378													G	23905616	A	G	23905616	2	3	265	1	0	0	0	0	0	0	0	1	13804	146	6	3		3	SACS	13	23905616	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2509337	23905616	91264262	603	131892											
PDS5B	23047	broad.mit.edu	37	chr13	33344568	33344568	+	Frame_Shift_Del	DEL	A	A	-													agccaacaatgaaaacttctAaaaaaggaagcaaaaaaaaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:33344568delA	uc010abf.2	+	32	4092	c.3934delA	c.(3934-3936)AAAfs	p.K1312fs	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1312					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		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)		GAAAACTTCTAAAAAAGGAAG	0.423													-	33344568	A	-	33344568	7	5	265	1	0	1	0	1	0	0	0	0	11692	363	13	0	4056	0	PDS5B	13	33344568	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	9438952	33344568	81825310	604	131893											
SOHLH2	54937	broad.mit.edu	37	chr13	36776016	36776016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcttttgaagtttacCtaattaacttgatggcttcc	7	8	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:36776016C>T	uc001uvj.2	-	2	352	c.263G>A	c.(262-264)AGA>AAA	p.R88K	SOHLH2_uc010tei.1_Missense_Mutation_p.R165K	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	88					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		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)		TGAAGTTTACCTAATTAACTT	0.348													T	36776016	C	T	36776016	3	4	265	1	0	0	0	0	1	0	0	0	14924	695	24	4	1054	4	SOHLH2	13	36776016	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3431448	36776016	78393862	605	131894											
ZC3H13	23091	broad.mit.edu	37	chr13	46549602	46549603	+	Frame_Shift_Ins	INS	-	-	CT													cgctctctctcccgttctcgINSctctctctccctctctctct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:46549602_46549603insCT	uc010tfw.1	-	11	2289_2290	c.2283_2284insAG	c.(2281-2286)GAGCGAfs	p.E761fs	ZC3H13_uc001vas.1_Frame_Shift_Ins_p.E761fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.E761fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	761_762	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		tcccgttctcgctctctctccc	0.144													CT	46549603	-	CT	46549602	7	5	265	1	0	1	1	0	0	0	0	0	17562	1095	38	0	2434	0	ZC3H13	13	46549602	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	9773586	46549602	68620276	606	131895	680	2									
ZC3H13	23091	broad.mit.edu	37	chr13	46549603	46549604	+	Frame_Shift_Ins	INS	-	-	CT													gctctctctcccgttctcgcINStctctctccctctctctctc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:46549602_46549603G>GCT	uc010tfw.1	-	10	2289_2290	c.2283_2284C>AGC	c.(2281-2286)gagcgafs	p.E761fs	ZC3H13_uc001vas.1_Frame_Shift_Ins_p.E761fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.E761fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	761	Arg/Glu-rich.						nucleic acid binding|zinc ion binding	p.R762*(2)|p.R758fs*104(1)		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)		tcccgttctcgctctctctccc	0.52													CT	46549604	-	CT	46549603	7	5	265	1	0	1	1	0	0	0	0	0	17562	796	28	0	2435	0	ZC3H13	13	46549603	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	46549603	68620275	607	131896	680	2									
RCBTB2	1102	broad.mit.edu	37	chr13	49076918	49076918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggcaaacacgtcgtcAgtgcaggagaagtgggtgag	16	7	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:49076918A>G	uc001vch.2	-	11	1430	c.1059T>C	c.(1057-1059)ACT>ACC	p.T353T	RCBTB2_uc010tgg.1_Silent_p.T358T|RCBTB2_uc001vci.2_Silent_p.T329T|RCBTB2_uc010tgh.1_Silent_p.T79T|RCBTB2_uc001vcj.2_Silent_p.T305T|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Nonstop_Mutation_p.*282R	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	353	RCC1 6.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		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)		ACACGTCGTCAGTGCAGGAGA	0.632													G	49076918	A	G	49076918	2	3	265	1	0	0	0	0	0	0	0	1	13172	175	7	3		3	RCBTB2	13	49076918	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2527315	49076918	66092960	608	131897											
TDRD3	81550	broad.mit.edu	37	chr13	61084778	61084779	+	Frame_Shift_Ins	INS	-	-	GG													taaaggtagaggaaaaggcaINSgggggcgaataagatctgaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:61084778_61084779insGG	uc001via.2	+	10	1539_1540	c.751_752insGG	c.(751-753)AGGfs	p.R251fs	TDRD3_uc010aef.2_Frame_Shift_Ins_p.R76fs|TDRD3_uc001vhz.3_Frame_Shift_Ins_p.R251fs|TDRD3_uc010aeg.2_Frame_Shift_Ins_p.R344fs|TDRD3_uc001vib.3_Frame_Shift_Ins_p.R250fs	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	251					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGGAAAAGGCAGGGGGCGAATA	0.347													GG	61084779	-	GG	61084778	7	5	265	1	0	1	1	0	0	0	0	0	15729	179	7	0	1068	0	TDRD3	13	61084778	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	12007860	61084778	54085100	609	131898	681	2									
TDRD3	81550	broad.mit.edu	37	chr13	61084779	61084780	+	Frame_Shift_Ins	INS	-	-	GG													aaaggtagaggaaaaggcagINSggggcgaataagatctgaag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:61084778_61084779A>AGG	uc001vhz.4	+	9	1539_1540	c.751_752A>AGG	c.(751-753)aggfs	p.R251fs	TDRD3_uc010aef.2_Frame_Shift_Ins_p.R76fs|TDRD3_uc001via.3_Frame_Shift_Ins_p.R251fs|TDRD3_uc010aeg.3_Frame_Shift_Ins_p.R344fs|TDRD3_uc001vib.4_Frame_Shift_Ins_p.R250fs	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	251					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGGAAAAGGCAGGGGGCGAATA	0.347													GG	61084780	-	GG	61084779	7	5	265	1	0	1	1	0	0	0	0	0	15729	1000	35	0	1069	0	TDRD3	13	61084779	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	61084779	54085099	610	131899	681	2									
TBC1D4	9882	broad.mit.edu	37	chr13	75936261	75936261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatttctggctgccctcGtgaactctccgttgcacgcc	11	14	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:75936261G>A	uc001vjl.1	-	2	1328	c.981C>T	c.(979-981)CAC>CAT	p.H327H	TBC1D4_uc010aer.2_Silent_p.H327H|TBC1D4_uc010aes.2_Silent_p.H327H	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	327	PID 2.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGCTGCCCTCGTGAACTCTCC	0.602													A	75936261	G	A	75936261	2	1	265	1	0	0	0	0	0	0	0	1	15619	1136	40	1		1	TBC1D4	13	75936261	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	14851482	75936261	39233617	611	131900											
MYCBP2	23077	broad.mit.edu	37	chr13	77755927	77755927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacttgtttaacaattgatCgtagtaatacttctccatca	4	8	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:77755927C>T	uc001vkf.2	-	34	4827	c.4736G>A	c.(4735-4737)CGA>CAA	p.R1579Q	MYCBP2_uc010aev.2_Missense_Mutation_p.R983Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACAATTGATCGTAGTAATAC	0.443													T	77755927	C	T	77755927	3	4	265	1	0	0	0	0	1	0	0	0	10018	884	31	1	9390	1	MYCBP2	13	77755927	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1819666	77755927	37413951	612	131901											
SLITRK5	26050	broad.mit.edu	37	chr13	88329003	88329003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatccaggaccgcgctttcGgggatctcaccaacctgagg	12	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:88329003G>A	uc001vln.2	+	2	1579	c.1360G>A	c.(1360-1362)GGG>AGG	p.G454R	SLITRK5_uc010tic.1_Missense_Mutation_p.G213R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	454	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGCGCTTTCGGGGATCTCAC	0.597													A	88329003	G	A	88329003	3	1	265	1	0	0	0	0	1	0	0	0	14746	1116	39	1	1362	1	SLITRK5	13	88329003	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	10573076	88329003	26840875	613	131902											
UGGT2	55757	broad.mit.edu	37	chr13	96513099	96513099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgtttaggacatctTtttcctttttgttttcttta	4	5	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:96513099T>C	uc001vmt.2	-	32	3853	c.3683A>G	c.(3682-3684)AAA>AGA	p.K1228R		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1228	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			ovary(2)|central_nervous_system(1)	3						TAGGACATCTTTTTCCTTTTT	0.254													C	96513099	T	C	96513099	3	2	265	1	0	0	0	0	1	0	0	0	16939	1841	64	3	899	3	UGGT2	13	96513099	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	8184096	96513099	18656779	614	131903											
RNF113B	140432	broad.mit.edu	37	chr13	98829237	98829237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgaggctctcaggcgccGcctcctcgcccctcctgtcg	11	20	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:98829237G>A	uc001vnk.2	-	1	285	c.254C>T	c.(253-255)GCG>GTG	p.A85V	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	85							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTCAGGCGCCGCCTCCTCGCC	0.726													A	98829237	G	A	98829237	3	1	265	1	0	0	0	0	1	0	0	0	13428	1087	38	1	722	1	RNF113B	13	98829237	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2316138	98829237	16340641	615	131904											
ERCC5	2073	broad.mit.edu	37	chr13	103514608	103514608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatcgaaggcaggcccGtgggaggaacgcacctgctg	15	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:103514608G>A	uc001vpw.2	+	8	1552	c.1109G>A	c.(1108-1110)CGT>CAT	p.R370H	ERCC5_uc001vpu.1_Missense_Mutation_p.R824H|ERCC5_uc010tjb.1_Missense_Mutation_p.R370H|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R202H	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	370					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGCAGGCCCGTGGGAGGAAC	0.527			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103514608	G	A	103514608	3	1	265	1	0	0	0	0	1	0	0	0	5216	1145	40	1	1139	1	ERCC5	13	103514608	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4685371	103514608	11655270	616	131905											
MYO16	23026	broad.mit.edu	37	chr13	109779875	109779875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagcgcctgcctctccgCggccagggaagcggccaacg	15	15	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:109779875C>T	uc001vqt.1	+	31	4088	c.3962C>T	c.(3961-3963)GCG>GTG	p.A1321V	MYO16_uc010agk.1_Missense_Mutation_p.A1343V|MYO16_uc010tjh.1_Missense_Mutation_p.A833V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1321					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			TGCCTCTCCGCGGCCAGGGAA	0.682													T	109779875	C	T	109779875	3	4	265	1	0	0	0	0	1	0	0	0	10064	768	27	1	4080	1	MYO16	13	109779875	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6265267	109779875	5390003	617	131906											
ING1	3621	broad.mit.edu	37	chr13	111371946	111371946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaaccacgaccacgaCgacggcgcctcgggcacacc	10	19	0	0	rs142623633		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:111371946C>T	uc001vri.2	+	2	1368	c.936C>T	c.(934-936)GAC>GAT	p.D312D	ING1_uc001vrf.2_Silent_p.D125D|ING1_uc001vrg.2_Silent_p.D100D|ING1_uc001vrh.2_Silent_p.D169D	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	312					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	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)			ACGACCACGACGACGGCGCCT	0.662													T	111371946	C	T	111371946	2	4	265	1	0	0	0	0	0	0	0	1	7735	535	19	1		1	ING1	13	111371946	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1592071	111371946	3797932	618	131907											
GRK1	6011	broad.mit.edu	37	chr13	114324053	114324053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtacacagcaggttcatcGtgtctctggcctatgcgttt	10	10	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:114324053G>A	uc010tkf.1	+	2	859	c.751G>A	c.(751-753)GTG>ATG	p.V251M		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	251	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)			CAGGTTCATCGTGTCTCTGGC	0.517													A	114324053	G	A	114324053	3	1	265	1	0	0	0	0	1	0	0	0	6790	1145	40	1	757	1	GRK1	13	114324053	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2952107	114324053	845825	619	131908											
FAM70B	348013	broad.mit.edu	37	chr13	114507955	114507955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgcaggcttccgcctgaCgcccgagcccgtcccgacct	10	20	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:114507955C>T	uc001vuh.2	+	8	794	c.767C>T	c.(766-768)ACG>ATG	p.T256M		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	256						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			TTCCGCCTGACGCCCGAGCCC	0.672													T	114507955	C	T	114507955	3	4	265	1	0	0	0	0	1	0	0	0	5606	536	19	1	797	1	FAM70B	13	114507955	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	183902	114507955	661923	620	131909											
OR11H4	390442	broad.mit.edu	37	chr14	20711039	20711039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgggattccctggttGctggaagattcagattttcc	10	10	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:20711039G>A	uc010tld.1	+	1	89	c.89G>A	c.(88-90)TGC>TAC	p.C30Y		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	30	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTCCCTGGTTGCTGGAAGATT	0.428													A	20711039	G	A	20711039	3	1	265	1	0	0	0	0	1	0	0	0	10928	1319	46	2	91	2	OR11H4	14	20711039	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		20711039	86638501	621	131910											
TEP1	7011	broad.mit.edu	37	chr14	20852227	20852227	+	Frame_Shift_Del	DEL	C	C	-													gtcttgccctgtcctgactgCcccgtcaccaggctcagcct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:20852227delC	uc001vxe.2	-	24	3544	c.3504delG	c.(3502-3504)GGGfs	p.G1168fs	TEP1_uc010ahk.2_Frame_Shift_Del_p.G518fs|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Frame_Shift_Del_p.G1060fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1168	ATP (Potential).|NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		GTCCTGACTGCCCCGTCACCA	0.642													-	20852227	C	-	20852227	7	5	265	1	0	1	0	1	0	0	0	0	15756	726	26	0	4507	0	TEP1	14	20852227	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	141188	20852227	86497313	622	131911											
FLJ10357	55701	broad.mit.edu	37	chr14	21543173	21543173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacaagcttccagaatgCcacctggttaaggaggaata	11	9	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:21543173C>T	uc001vzp.2	+	3	1313	c.1284C>T	c.(1282-1284)TGC>TGT	p.C428C	FLJ10357_uc001vzn.1_Silent_p.C428C|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Intron	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	428					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		TTCCAGAATGCCACCTGGTTA	0.552													T	21543173	C	T	21543173	2	4	265	1	0	0	0	0	0	0	0	1	5926	747	26	2		2	FLJ10357	14	21543173	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	690946	21543173	85806367	623	131912											
SALL2	6297	broad.mit.edu	37	chr14	21992285	21992285	+	Frame_Shift_Del	DEL	T	T	-													cctcactccctgggggggtgTtttcatcagctttattcttg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:21992285delT	uc001wbe.2	-	2	1859	c.1577delA	c.(1576-1578)AACfs	p.N526fs	SALL2_uc010tly.1_Frame_Shift_Del_p.N524fs|SALL2_uc010tlz.1_Frame_Shift_Del_p.N389fs|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Frame_Shift_Del_p.N391fs|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	526							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGGGGTGTTTTCATCAGC	0.527													-	21992285	T	-	21992285	7	5	265	1	0	1	0	1	0	0	0	0	13811	1725	60	0	1450	0	SALL2	14	21992285	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	449112	21992285	85357255	624	131913											
PABPN1	8106	broad.mit.edu	37	chr14	23793419	23793419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacgagcccgctaccgcGcccggaccaccaactacaac	7	20	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:23793419G>A	uc001wjk.2	+	6	2084	c.802G>A	c.(802-804)GCC>ACC	p.A268T	PABPN1_uc001wjh.3_Missense_Mutation_p.A295T|PABPN1_uc001wjj.2_Missense_Mutation_p.A268T	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	268	Necessary for homooligomerization.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTACCGCGCCCGGACCAC	0.567													A	23793419	G	A	23793419	3	1	265	1	0	0	0	0	1	0	0	0	11368	1087	38	1	824	1	PABPN1	14	23793419	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1801134	23793419	83556121	625	131914											
CPNE6	9362	broad.mit.edu	37	chr14	24546187	24546187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcaaccgtgtggctgagcCggcccagcgggagcagagca	15	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24546187C>T	uc001wll.2	+	14	1364	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L	CPNE6_uc010tnv.1_Missense_Mutation_p.P477L|CPNE6_uc001wlm.2_Missense_Mutation_p.P247L|CPNE6_uc001wln.2_Missense_Mutation_p.P90L	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	422	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		GTGGCTGAGCCGGCCCAGCGG	0.637													T	24546187	C	T	24546187	3	4	265	1	0	0	0	0	1	0	0	0	3816	652	23	1	1315	1	CPNE6	14	24546187	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	752768	24546187	82803353	626	131915											
FAM158A	51016	broad.mit.edu	37	chr14	24610340	24610340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgagggcgacctccaacatGacggacagggccaggtggct	15	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24610340G>A	uc001wmi.2	-	2	337	c.174C>T	c.(172-174)GTC>GTT	p.V58V		NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN	hypothetical protein LOC51016	58											0						CCTCCAACATGACGGACAGGG	0.652											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24610340	G	A	24610340	2	1	265	1	0	0	0	0	0	0	0	1	5467	1277	45	4		4	FAM158A	14	24610340	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	64153	24610340	82739200	627	131916											
NFATC4	4776	broad.mit.edu	37	chr14	24843554	24843563	+	Frame_Shift_Del	DEL	GCCCCAGGTG	GCCCCAGGTG	-													cagcgctcagcccaggagctGccccaggtggaggcctacag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24843554_24843563delGCCCCAGGTG	uc001wpc.2	+	6	2076_2085	c.1755_1764delGCCCCAGGTG	c.(1753-1764)CTGCCCCAGGTGfs	p.L585fs	NFATC4_uc010tok.1_Frame_Shift_Del_p.L648fs|NFATC4_uc010tol.1_Frame_Shift_Del_p.L648fs|NFATC4_uc010alr.2_Frame_Shift_Del_p.L648fs|NFATC4_uc010als.2_3'UTR|NFATC4_uc010tom.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010ton.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010too.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010alt.2_Frame_Shift_Del_p.L617fs|NFATC4_uc010top.1_Frame_Shift_Del_p.L617fs|NFATC4_uc010toq.1_Frame_Shift_Del_p.L617fs|NFATC4_uc010alu.2_3'UTR|NFATC4_uc010tor.1_Frame_Shift_Del_p.L585fs|NFATC4_uc010tos.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010tot.1_Frame_Shift_Del_p.L573fs|NFATC4_uc010tou.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010tov.1_Frame_Shift_Del_p.L573fs|NFATC4_uc010tow.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010alv.2_Frame_Shift_Del_p.L573fs|NFATC4_uc010tox.1_Frame_Shift_Del_p.L515fs|NFATC4_uc001wpd.2_Frame_Shift_Del_p.L120fs|NFATC4_uc010toy.1_Frame_Shift_Del_p.L120fs|NFATC4_uc010toz.1_Frame_Shift_Del_p.L120fs|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	585_588	IPT/TIG.				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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CCCAGGAGCTGCCCCAGGTGGAGGCCTACA	0.633													-	24843563	GCCCCAGGTG	-	24843554	7	5	265	1	0	1	0	1	0	0	0	0	10365	1306	46	0	1970	0	NFATC4	14	24843554	Frame_Shift_Del	DEL	GCCCCAGGTG	TCGA-HU-A4G9-01A-11D-A24D-08	233214	24843554	82505986	628	131917											
SDR39U1	56948	broad.mit.edu	37	chr14	24909989	24909989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacccaggcccgtttctcacCtgagcgcaccaccacctggc	8	19	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24909989C>A	uc001wpm.2	-	5	504	c.472G>T	c.(472-474)GGG>TGG	p.G158W	KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Missense_Mutation_p.G50W|SDR39U1_uc001wpj.2_Missense_Mutation_p.G76W|SDR39U1_uc001wpk.2_Missense_Mutation_p.G50W|SDR39U1_uc001wpl.2_Missense_Mutation_p.G103W|SDR39U1_uc001wpn.2_5'UTR|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	184							binding			pancreas(1)	1						CGTTTCTCACCTGAGCGCACC	0.532													A	24909989	C	A	24909989	3	1	265	1	0	0	0	0	1	0	0	0	13972	695	24	5	417	5	SDR39U1	14	24909989	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	66435	24909989	82439551	629	131918											
CTSG	1511	broad.mit.edu	37	chr14	25042923	25042923	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggaaacttgagacccTggtgaagacttctggaggaa	15	7	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:25042923T>G	uc001wpq.2	-	5	725	c.688A>C	c.(688-690)AGG>CGG	p.R230R		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	230	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		CTTGAGACCCTGGTGAAGACT	0.552													G	25042923	T	G	25042923	2	3	265	1	0	0	0	0	0	0	0	1	4035	1579	55	5		5	CTSG	14	25042923	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	132934	25042923	82306617	630	131919											
HECTD1	25831	broad.mit.edu	37	chr14	31592235	31592235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaatagagtactggcaCggcagctatcaaggaaatct	10	10	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:31592235C>T	uc001wrc.1	-	27	5489	c.5000G>A	c.(4999-5001)CGT>CAT	p.R1667H	HECTD1_uc001wra.1_Translation_Start_Site|HECTD1_uc001wrb.1_Translation_Start_Site|HECTD1_uc001wrd.1_Missense_Mutation_p.R1135H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1667					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	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)		AGTACTGGCACGGCAGCTATC	0.393													T	31592235	C	T	31592235	3	4	265	1	0	0	0	0	1	0	0	0	7039	536	19	1	2900	1	HECTD1	14	31592235	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	6549312	31592235	75757305	631	131920											
NKX2-8	26257	broad.mit.edu	37	chr14	37051560	37051560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtaaatctagaaggctgCgcacggtgaagctcaggcgt	15	9	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:37051560C>T	uc001wtx.2	-	1	227	c.35G>A	c.(34-36)CGC>CAC	p.R12H		NM_014360	NP_055175	O15522	NKX28_HUMAN	NK2 homeobox 8	12					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TAGAAGGCTGCGCACGGTGAA	0.726													T	37051560	C	T	37051560	3	4	265	1	0	0	0	0	1	0	0	0	10454	768	27	1	692	1	NKX2-8	14	37051560	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5459325	37051560	70297980	632	131921											
FSCB	84075	broad.mit.edu	37	chr14	44974339	44974339	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggctgaacttcagcgggggCctcctcagctggtggaggct	16	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:44974339C>G	uc001wvn.2	-	1	2161	c.1852G>C	c.(1852-1854)GCC>CCC	p.A618P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	618	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.617													G	44974339	C	G	44974339	3	3	265	1	0	0	0	0	1	0	0	0	6066	739	26	5	629	5	FSCB	14	44974339	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7922779	44974339	62375201	633	131922											
GPR135	64582	broad.mit.edu	37	chr14	59930838	59930838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccagacggccaccacGctgaggagcgagggggcctg	17	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:59930838G>A	uc010apj.2	-	1	1222	c.1107C>T	c.(1105-1107)AGC>AGT	p.S369S	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	369	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGGCCACCACGCTGAGGAGCG	0.657													A	59930838	G	A	59930838	2	1	265	1	0	0	0	0	0	0	0	1	6644	1078	38	1		1	GPR135	14	59930838	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	14956499	59930838	47418702	634	131923											
GPR135	64582	broad.mit.edu	37	chr14	59930957	59930957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgatgaggacggtggtggCcgtgcgcacctcgctgaaga	16	10	0	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:59930957C>T	uc010apj.2	-	1	1103	c.988G>A	c.(988-990)GCC>ACC	p.A330T	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	330	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		ACGGTGGTGGCCGTGCGCACC	0.672													T	59930957	C	T	59930957	3	4	265	1	0	0	0	0	1	0	0	0	6644	739	26	2	500	2	GPR135	14	59930957	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	119	59930957	47418583	635	131924											
RTN1	6252	broad.mit.edu	37	chr14	60074118	60074118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggccacgacgctcaccaCgctgaactgggtcagggaga	14	12	2	2	rs143124571		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:60074118C>T	uc001xen.1	-	4	2067	c.1858G>A	c.(1858-1860)GTG>ATG	p.V620M	RTN1_uc001xem.1_Missense_Mutation_p.V200M|RTN1_uc001xek.1_Missense_Mutation_p.V52M|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.V37M	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	620	Reticulon.|Helical; (Potential).				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACGCTCACCACGCTGAACTGG	0.557													T	60074118	C	T	60074118	3	4	265	1	0	0	0	0	1	0	0	0	13725	536	19	1	496	1	RTN1	14	60074118	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	143161	60074118	47275422	636	131925											
SNAPC1	6617	broad.mit.edu	37	chr14	62234021	62234021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcagcttatatttttaGgaagctacgactagacagag	10	6	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:62234021G>A	uc001xft.2	+	3	484	c.380G>A	c.(379-381)AGG>AAG	p.R127K		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	127	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TATATTTTTAGGAAGCTACGA	0.343													A	62234021	G	A	62234021	3	1	265	1	0	0	0	0	1	0	0	0	14834	1000	35	4	390	4	SNAPC1	14	62234021	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2159903	62234021	45115519	637	131926											
SYNE2	23224	broad.mit.edu	37	chr14	64518335	64518335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcatagcatccatagaAaaagagaaagattctttagg	7	5	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:64518335A>G	uc001xgm.2	+	48	7934	c.7704A>G	c.(7702-7704)GAA>GAG	p.E2568E	SYNE2_uc001xgl.2_Silent_p.E2568E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2568	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATCCATAGAAAAAGAGAAAG	0.323													G	64518335	A	G	64518335	2	3	265	1	0	0	0	0	0	0	0	1	15443	11	1	3		3	SYNE2	14	64518335	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2284314	64518335	42831205	638	131927											
GPHN	10243	broad.mit.edu	37	chr14	66975270	66975270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaccgagggaatgatccttActaaccacgaccatcaaatc	7	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:66975270A>G	uc001xiy.2	+	1	1146	c.25A>G	c.(25-27)ACT>GCT	p.T9A	GPHN_uc001xiw.2_Missense_Mutation_p.T9A|GPHN_uc001xix.2_Missense_Mutation_p.T9A|GPHN_uc010tss.1_Missense_Mutation_p.T9A|GPHN_uc010tst.1_Missense_Mutation_p.T9A|uc010tsr.1_5'Flank	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	9					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AATGATCCTTACTAACCACGA	0.622			T	MLL	AL								G	66975270	A	G	66975270	3	3	265	1	0	0	0	0	1	0	0	0	6610	391	14	3	27	3	GPHN	14	66975270	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2456935	66975270	40374270	639	131928											
TTC9	23508	broad.mit.edu	37	chr14	71109123	71109123	+	Frame_Shift_Del	DEL	C	C	-													agctgaaggggctgctgccgCcccccggggaacgggagcgg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:71109123delC	uc001xmi.2	+	1	620	c.277delC	c.(277-279)CCCfs	p.P93fs	uc001xmh.1_5'Flank	NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	93							binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GCTGCTGCCGCCCCCCGGGGA	0.667													-	71109123	C	-	71109123	7	5	265	1	0	1	0	1	0	0	0	0	16712	739	26	0	279	0	TTC9	14	71109123	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	4133853	71109123	36240417	640	131929											
SIPA1L1	26037	broad.mit.edu	37	chr14	72190553	72190554	+	Frame_Shift_Ins	INS	-	-	A													gcaagtacctgattggatggINSaaaaaacccgaaggaaccat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:72190553_72190554insA	uc001xms.2	+	16	4809_4810	c.4461_4462insA	c.(4459-4464)TGGAAAfs	p.W1487fs	SIPA1L1_uc001xmt.2_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmu.2_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmv.2_Frame_Shift_Ins_p.W1487fs|SIPA1L1_uc010ttm.1_Frame_Shift_Ins_p.W941fs|SIPA1L1_uc001xmw.2_Frame_Shift_Ins_p.W252fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1487_1488					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGATTGGATGGAAAAAACCCGA	0.416													A	72190554	-	A	72190553	7	5	265	1	0	1	1	0	0	0	0	0	14329	1183	41	0	4519	0	SIPA1L1	14	72190553	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1081430	72190553	35158987	641	131930	682	2									
SIPA1L1	26037	broad.mit.edu	37	chr14	72190554	72190555	+	Frame_Shift_Ins	INS	-	-	A													caagtacctgattggatggaINSaaaaacccgaaggaaccata							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:72190553_72190554G>GA	uc001xms.3	+	15	4822_4823	c.4461_4462G>GA	c.(4459-4464)tggaaafs	p.W1487fs	SIPA1L1_uc001xmt.3_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmu.3_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmv.3_Frame_Shift_Ins_p.W1487fs|SIPA1L1_uc010ttm.2_Frame_Shift_Ins_p.W941fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1487					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)		TGATTGGATGGAAAAAACCCGA	0.5													A	72190555	-	A	72190554	7	5	265	1	0	1	1	0	0	0	0	0	14329	247	9	0	4520	0	SIPA1L1	14	72190554	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	72190554	35158986	642	131931	682	2									
C14orf115	55237	broad.mit.edu	37	chr14	74823869	74823869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgatcgactccaaagTgatgctgcaggccgtgcgct	14	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:74823869T>C	uc001xpw.3	+	2	574	c.383T>C	c.(382-384)GTG>GCG	p.V128A		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	128					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GACTCCAAAGTGATGCTGCAG	0.637													C	74823869	T	C	74823869	3	2	265	1	0	0	0	0	1	0	0	0	1740	1696	59	3	385	3	C14orf115	14	74823869	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2633315	74823869	32525671	643	131932											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376342	75376342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccagcatctctgccgcccActgcttcacctgctcctctc	5	20	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:75376342A>G	uc010tux.1	-	7	1702	c.1174T>C	c.(1174-1176)TGG>CGG	p.W392R	RPS6KL1_uc001xqx.1_Missense_Mutation_p.W144R|RPS6KL1_uc001xqw.2_Missense_Mutation_p.W361R|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	392	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCTGCCGCCCACTGCTTCACC	0.687													G	75376342	A	G	75376342	3	3	265	1	0	0	0	0	1	0	0	0	13659	159	6	3	568	3	RPS6KL1	14	75376342	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	552473	75376342	31973198	644	131933											
VASH1	22846	broad.mit.edu	37	chr14	77229171	77229171	+	Frame_Shift_Del	DEL	G	G	-													tcgaagatttagggatgccaGgggggaagaaggtggctggg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:77229171delG	uc001xst.2	+	1	937	c.7delG	c.(7-9)GGGfs	p.G3fs	VASH1_uc001xss.2_Frame_Shift_Del_p.G3fs	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					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					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647													-	77229171	G	-	77229171	7	5	265	1	0	1	0	1	0	0	0	0	17122	1000	35	0	9	0	VASH1	14	77229171	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	1852829	77229171	30120369	645	131934											
EML5	161436	broad.mit.edu	37	chr14	89123848	89123848	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacatcactgtcatagccTacaataaaaatatacgagta	5	8	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:89123848T>C	uc001xxg.2	-	28	4064	c.3878_splice	c.e28-1	p.G1293_splice	EML5_uc001xxf.2_Splice_Site_p.G88_splice|EML5_uc001xxh.1_Splice_Site_p.G432_splice	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like							cytoplasm|microtubule				ovary(3)	3						TGTCATAGCCTACAATAAAAA	0.264													C	89123848	T	C	89123848	5	2	265	1	0	0	0	0	0	0	1	0	5100	1536	53	3	2125	3	EML5	14	89123848	Splice_Site	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	11894677	89123848	18225692	646	131935											
FBLN5	10516	broad.mit.edu	37	chr14	92353624	92353624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttgacgcaggtttgcaCgcaggggttctcggtggcac	17	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:92353624C>T	uc001xzx.3	-	7	1125	c.652G>A	c.(652-654)GTG>ATG	p.V218M	FBLN5_uc010aud.2_Missense_Mutation_p.V223M|FBLN5_uc010aue.2_Missense_Mutation_p.V259M	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	218	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			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				CAGGTTTGCACGCAGGGGTTC	0.517													T	92353624	C	T	92353624	3	4	265	1	0	0	0	0	1	0	0	0	5700	536	19	1	714	1	FBLN5	14	92353624	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3229776	92353624	14995916	647	131936											
ASB2	51676	broad.mit.edu	37	chr14	94405856	94405857	+	Frame_Shift_Del	DEL	GC	GC	-													ctgcgccggtcttcgtagagGcgcgcgcgctcgggggccag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:94405856_94405857delGC	uc001ycc.1	-	6	1559_1560	c.1070_1071delGC	c.(1069-1071)CGCfs	p.R357fs	ASB2_uc001ycb.1_Frame_Shift_Del_p.R51fs|ASB2_uc001ycd.2_Frame_Shift_Del_p.R405fs|ASB2_uc001yce.1_Frame_Shift_Del_p.R303fs	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	357					intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTCGTAGAGGCGCGCGCGCTC	0.708													-	94405857	GC	-	94405856	7	5	265	1	0	1	0	1	0	0	0	0	1023	1190	42	0	704	0	ASB2	14	94405856	Frame_Shift_Del	DEL	GC	TCGA-HU-A4G9-01A-11D-A24D-08	2052232	94405856	12943684	648	131937											
DYNC1H1	1778	broad.mit.edu	37	chr14	102445788	102445788	+	Frame_Shift_Del	DEL	T	T	-													attagcaatgcagtggctccTttttttaagtcctacattag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:102445787_102445787CT>C	uc001yks.2	+	2	640	c.476_476CT>C	c.(475-477)cctfs	p.P159fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	159	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|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						GCAGTGGCTCCTTTTTTTAAG	0.413													-	102445788	T	-	102445788	7	5	265	1	0	1	0	1	0	0	0	0	4841	1596	56	0	487	0	DYNC1H1	14	102445788	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	8039932	102445788	4903752	649	131938											
TNFAIP2	7127	broad.mit.edu	37	chr14	103598068	103598068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagccacggctttgacaCcctgctccagaacctgcatg	9	15	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:103598068C>T	uc001ymm.1	+	7	1522	c.1391C>T	c.(1390-1392)ACC>ATC	p.T464I	TNFAIP2_uc010awo.1_Missense_Mutation_p.T176I|TNFAIP2_uc010txz.1_Missense_Mutation_p.T133I|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	464					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			GGCTTTGACACCCTGCTCCAG	0.642													T	103598068	C	T	103598068	3	4	265	1	0	0	0	0	1	0	0	0	16270	507	18	4	1417	4	TNFAIP2	14	103598068	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1152280	103598068	3751472	650	131939											
AHNAK2	113146	broad.mit.edu	37	chr14	105411993	105411993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagacacctccacgtcGggggccgtcacatccatctt	11	15	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:105411993G>A	uc010axc.1	-	7	9915	c.9795C>T	c.(9793-9795)CCC>CCT	p.P3265P	AHNAK2_uc001ypx.2_Silent_p.P3165P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3265						nucleus				ovary(1)	1		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)			CCTCCACGTCGGGGGCCGTCA	0.627													A	105411993	G	A	105411993	2	1	265	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105411993	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1813925	105411993	1937547	651	131940											
C15orf2	23742	broad.mit.edu	37	chr15	24921326	24921326	+	Frame_Shift_Del	DEL	C	C	-													cccatgctgcctgctcggaaCcccccgaggtttggacaccc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:24921326delC	uc001ywo.2	+	1	786	c.312delC	c.(310-312)AACfs	p.N104fs		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	104					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGCTCGGAACCCCCCGAGGT	0.677													-	24921326	C	-	24921326	7	5	265	1	0	1	0	1	0	0	0	0	1784	506	18	0	314	0	C15orf2	15	24921326	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08		24921326	77610066	652	131941											
ATP10A	57194	broad.mit.edu	37	chr15	26107859	26107859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggtggcggctgtagtcctCccacaggtccctgaaggccg	15	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:26107859C>T	uc010ayu.2	-	1	491	c.385G>A	c.(385-387)GAG>AAG	p.E129K	ATP10A_uc001zax.2_RNA	NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	129	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		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)		CTGTAGTCCTCCCACAGGTCC	0.687													T	26107859	C	T	26107859	3	4	265	1	0	0	0	0	1	0	0	0	1116	864	30	4	4198	4	ATP10A	15	26107859	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1186533	26107859	76423533	653	131942											
HERC2	8924	broad.mit.edu	37	chr15	28493822	28493822	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgctcaaagtccagAcatgatgaaatccgacgggc	11	10	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:28493822A>G	uc001zbj.2	-	21	3217	c.3111T>C	c.(3109-3111)TGT>TGC	p.C1037C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1037					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CAAAGTCCAGACATGATGAAA	0.373													G	28493822	A	G	28493822	2	3	265	1	0	0	0	0	0	0	0	1	7058	273	10	3		3	HERC2	15	28493822	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2385963	28493822	74037570	654	131943											
PPP1R14D	54866	broad.mit.edu	37	chr15	41120845	41120845	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaagacagcatggaagTattggtctgggcaaggagct	15	6	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:41120845T>C	uc001zmy.2	-	1	63	c.-5A>G	c.(-7--3)ATACT>ATGCT		PPP1R14D_uc001zmz.2_Translation_Start_Site	NM_017726	NP_060196	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory subunit 14D						regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0		all_cancers(109;6.29e-14)|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;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCATGGAAGTATTGGTCTGG	0.552													C	41120845	T	C	41120845	1	2	265	1	0	0	0	0	0	0	0	0	12362	1653	57	3		3	PPP1R14D	15	41120845	Translation_Start_Site	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	12627023	41120845	61410547	655	131944											
ZFP106	64397	broad.mit.edu	37	chr15	42717190	42717190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagctgactgcccgagggcCatggcattcaaagatctcaa	10	12	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:42717190C>A	uc001zpw.2	-	13	5298	c.4963G>T	c.(4963-4965)GGC>TGC	p.G1655C	ZFP106_uc001zpu.2_Missense_Mutation_p.G753C|ZFP106_uc001zpv.2_Missense_Mutation_p.G840C|ZFP106_uc001zpx.2_Missense_Mutation_p.G883C	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1655	WD 3.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCCCGAGGGCCATGGCATTCA	0.468													A	42717190	C	A	42717190	3	1	265	1	0	0	0	0	1	0	0	0	17634	594	21	5	716	5	ZFP106	15	42717190	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1596345	42717190	59814202	656	131945											
CDAN1	146059	broad.mit.edu	37	chr15	43022830	43022830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagtgaagatgtcccGgtaatattccagcaagggaa	13	7	0	3	rs80338696		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:43022830G>A	uc001zql.2	-	14	2257	c.2140C>T	c.(2140-2142)CGG>TGG	p.R714W	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.T39T	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	714			R -> W (in CDA1).			integral to membrane	protein binding			ovary(2)	2		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)		AAGATGTCCCGGTAATATTCC	0.597													A	43022830	G	A	43022830	3	1	265	1	0	0	0	0	1	0	0	0	3054	1115	39	1	1603	1	CDAN1	15	43022830	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	305640	43022830	59508562	657	131946											
PDIA3	2923	broad.mit.edu	37	chr15	44063406	44063406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagaaggcacaggAggatctctaaagcagtagcc	13	7	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:44063406A>G	uc001zsu.2	+	13	1656	c.1508A>G	c.(1507-1509)GAG>GGG	p.E503G	PDIA3_uc010bdp.2_Missense_Mutation_p.E483G|PDIA3_uc010ued.1_Missense_Mutation_p.E277G	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	503	Prevents secretion from ER (By similarity).				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			ovary(1)|skin(1)	2		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)		AAGGCACAGGAGGATCTCTAA	0.418													G	44063406	A	G	44063406	3	3	265	1	0	0	0	0	1	0	0	0	11669	304	11	3	1558	3	PDIA3	15	44063406	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1040576	44063406	58467986	658	131947											
DUOX1	53905	broad.mit.edu	37	chr15	45431269	45431269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacctataaagcacccAagcctacaaagtgctgaaga	6	14	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:45431269A>G	uc001zus.1	+	12	1465	c.1119A>G	c.(1117-1119)CCA>CCG	p.P373P	DUOX1_uc001zut.1_Silent_p.P373P|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	373	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				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			ovary(5)|skin(2)|breast(1)	8		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)		TAAAGCACCCAAGCCTACAAA	0.567													G	45431269	A	G	45431269	2	3	265	1	0	0	0	0	0	0	0	1	4800	117	5	3		3	DUOX1	15	45431269	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1367863	45431269	57100123	659	131948											
SEMA6D	80031	broad.mit.edu	37	chr15	48056471	48056471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagattctgtttggacaGcagttcccgaagacaaagtg	10	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:48056471G>A	uc010bek.2	+	11	1426	c.1066G>A	c.(1066-1068)GCA>ACA	p.A356T	SEMA6D_uc001zvw.2_Missense_Mutation_p.A356T|SEMA6D_uc001zvx.1_Missense_Mutation_p.A356T|SEMA6D_uc001zvy.2_Missense_Mutation_p.A356T|SEMA6D_uc001zvz.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwa.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwb.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwc.2_Missense_Mutation_p.A356T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	356	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		TGTTTGGACAGCAGTTCCCGA	0.423													A	48056471	G	A	48056471	3	1	265	1	0	0	0	0	1	0	0	0	14042	971	34	2	1104	2	SEMA6D	15	48056471	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2625202	48056471	54474921	660	131949											
FBN1	2200	broad.mit.edu	37	chr15	48762843	48762843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttacctgtgcagttccCgccgcttctgtccagttcgt	10	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:48762843C>T	uc001zwx.1	-	36	4775	c.4447G>A	c.(4447-4449)GGG>AGG	p.G1483R	FBN1_uc010beo.1_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1483	EGF-like 25; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGCAGTTCCCGCCGCTTCTG	0.582													T	48762843	C	T	48762843	3	4	265	1	0	0	0	0	1	0	0	0	5702	652	23	1	4292	1	FBN1	15	48762843	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	706372	48762843	53768549	661	131950											
COPS2	9318	broad.mit.edu	37	chr15	49426244	49426244	+	Frame_Shift_Del	DEL	A	A	-													tcataattcttgaaggcttcAaaaaaatcagtgtgtgcctt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:49426244delA	uc001zxf.2	-	8	856	c.777delT	c.(775-777)TTTfs	p.F259fs	COPS2_uc001zxh.2_Frame_Shift_Del_p.F266fs|COPS2_uc010ufa.1_Frame_Shift_Del_p.F195fs	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	259	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TGAAGGCTTCAAAAAAATCAG	0.353													-	49426244	A	-	49426244	7	5	265	1	0	1	0	1	0	0	0	0	3733	127	5	0	578	0	COPS2	15	49426244	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	663401	49426244	53105148	662	131951											
AP4E1	23431	broad.mit.edu	37	chr15	51260544	51260544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacaaacctccccatcaaCgccaggaggaaaagctttct	6	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:51260544C>T	uc001zyx.1	+	15	1966	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	646					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCCCCATCAACGCCAGGAGGA	0.378													T	51260544	C	T	51260544	3	4	265	1	0	0	0	0	1	0	0	0	752	536	19	1	1994	1	AP4E1	15	51260544	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1834300	51260544	51270848	663	131952											
DMXL2	23312	broad.mit.edu	37	chr15	51792058	51792058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatcaagatgaattgtTtgttctaaaacccactctga	5	8	4	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:51792058T>C	uc002abf.2	-	18	3588	c.3363A>G	c.(3361-3363)CAA>CAG	p.Q1121Q	DMXL2_uc010ufy.1_Silent_p.Q1121Q|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1121						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GATGAATTGTTTGTTCTAAAA	0.378													C	51792058	T	C	51792058	2	2	265	1	0	0	0	0	0	0	0	1	4595	1838	64	3		3	DMXL2	15	51792058	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	531514	51792058	50739334	664	131953											
WDR72	256764	broad.mit.edu	37	chr15	54005019	54005019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtctctcagtatatgtgcAaaatcgaattgtctggcagt	9	7	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:54005019A>G	uc002acj.2	-	7	703	c.661T>C	c.(661-663)TGC>CGC	p.C221R	WDR72_uc010bfi.1_Missense_Mutation_p.C221R	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	221										lung(1)|skin(1)	2				all cancers(107;0.0511)		GTATATGTGCAAAATCGAATT	0.308													G	54005019	A	G	54005019	3	3	265	1	0	0	0	0	1	0	0	0	17319	130	5	3	2703	3	WDR72	15	54005019	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2212961	54005019	48526373	665	131954											
RAB27A	5873	broad.mit.edu	37	chr15	55497750	55497750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttcacttaactgatcCgtagaggcatgaccatttga	7	9	2	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:55497750C>T	uc002aco.2	-	7	854	c.621G>A	c.(619-621)ACG>ACA	p.T207T	RAB27A_uc002acr.2_Silent_p.T207T|RAB27A_uc002acp.2_Silent_p.T207T|RAB27A_uc002acq.2_Silent_p.T207T	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	207					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TTAACTGATCCGTAGAGGCAT	0.483													T	55497750	C	T	55497750	2	4	265	1	0	0	0	0	0	0	0	1	12914	639	23	1		1	RAB27A	15	55497750	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1492731	55497750	47033642	666	131955											
ANXA2	302	broad.mit.edu	37	chr15	60674549	60674549	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcacctacctttggtcTtgatggctgtttcaatgttc	8	9	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:60674549T>G	uc002agn.2	-	4	300	c.140A>C	c.(139-141)AAG>ACG	p.K47T	ANXA2_uc002agk.2_Missense_Mutation_p.K47T|ANXA2_uc002agl.2_Missense_Mutation_p.K47T|ANXA2_uc002agm.2_Missense_Mutation_p.K65T|ANXA2_uc010uhd.1_RNA|ANXA2_uc010bgj.2_Missense_Mutation_p.K47T	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	47	Annexin 1.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ACCTTTGGTCTTGATGGCTGT	0.448													G	60674549	T	G	60674549	3	3	265	1	0	0	0	0	1	0	0	0	718	1609	56	5	923	5	ANXA2	15	60674549	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	5176799	60674549	41856843	667	131956											
DPP8	54878	broad.mit.edu	37	chr15	65771345	65771345	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcaatttcctcttcgtgActttggggaaaaacatgaaa	7	8	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:65771345A>G	uc002aov.2	-	11	2955	c.1377T>C	c.(1375-1377)AGT>AGC	p.S459S	DPP8_uc002aow.2_Silent_p.S459S|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.S443S|DPP8_uc002aoy.2_Silent_p.S459S|DPP8_uc002aoz.2_Silent_p.S443S|DPP8_uc010bhj.2_Silent_p.S459S|DPP8_uc002apa.2_Silent_p.S356S|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	459					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						CCTCTTCGTGACTTTGGGGAA	0.289													G	65771345	A	G	65771345	2	3	265	1	0	0	0	0	0	0	0	1	4732	272	10	3		3	DPP8	15	65771345	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	5096796	65771345	36760047	668	131957											
PML	5371	broad.mit.edu	37	chr15	74336586	74336586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagattagccagctggctgCggtgaaccgggaaagcaagt	15	8	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:74336586C>T	uc002awv.2	+	9	2026	c.1886C>T	c.(1885-1887)GCG>GTG	p.A629V	PML_uc002awu.2_Missense_Mutation_p.A581V|PML_uc010ule.1_Missense_Mutation_p.A190V	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	629					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|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 binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CAGCTGGCTGCGGTGAACCGG	0.627			T	RARA|PAX5	APL|ALL								T	74336586	C	T	74336586	3	4	265	1	0	0	0	0	1	0	0	0	12135	768	27	1	2937	1	PML	15	74336586	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	8565241	74336586	28194806	669	131958											
SIN3A	25942	broad.mit.edu	37	chr15	75687179	75687179	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctctctgagcttctcGccattcttcctctttcatct	4	15	6	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:75687179G>A	uc002bai.2	-	14	2378	c.2119C>T	c.(2119-2121)CGA>TGA	p.R707*	SIN3A_uc002baj.2_Nonsense_Mutation_p.R707*|SIN3A_uc010uml.1_Nonsense_Mutation_p.R707*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	707	Interactions with HDAC1 and ARID4B.|Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TGAGCTTCTCGCCATTCTTCC	0.423													A	75687179	G	A	75687179	4	1	265	1	0	0	0	0	0	1	0	0	14325	1095	38	1	1734	1	SIN3A	15	75687179	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1350593	75687179	26844213	670	131959											
ZNF592	9640	broad.mit.edu	37	chr15	85341639	85341639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcaagacgcaggtgggCgtcttcaagtgccctgagtg	15	10	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:85341639C>T	uc002bld.2	+	7	3006	c.2670C>T	c.(2668-2670)GGC>GGT	p.G890G	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	890					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGCAGGTGGGCGTCTTCAAGT	0.532													T	85341639	C	T	85341639	2	4	265	1	0	0	0	0	0	0	0	1	18019	755	27	1		1	ZNF592	15	85341639	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	9654460	85341639	17189753	671	131960											
ACAN	176	broad.mit.edu	37	chr15	89398171	89398171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgccctctgcctcagaGgaaccatccccctcagaggt	10	15	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:89398171G>T	uc010upo.1	+	12	2729	c.2355G>T	c.(2353-2355)GAG>GAT	p.E785D	ACAN_uc010upp.1_Missense_Mutation_p.E785D|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	785					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCCTCAGAGGAACCATCCC	0.582													T	89398171	G	T	89398171	3	4	265	1	0	0	0	0	1	0	0	0	117	991	35	5	2397	5	ACAN	15	89398171	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4056532	89398171	13133221	672	131961											
IDH2	3418	broad.mit.edu	37	chr15	90631918	90631919	+	Frame_Shift_Ins	INS	-	-	C													tgggctcccggaagacagtcINSccccccaggatgttccggat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:90631917_90631918T>TC	uc002box.3	-	3	521_522	c.435_436A>GA	c.(433-438)gggactfs	p.G145fs	IDH2_uc010uqb.2_Frame_Shift_Ins_p.G93fs|IDH2_uc010uqc.2_Frame_Shift_Ins_p.G15fs	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	145					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion 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)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM								C	90631919	-	C	90631918	7	5	265	1	0	1	1	0	0	0	0	0	7495	842	30	0	955	0	IDH2	15	90631918	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1233747	90631918	11899474	673	131962											
SEMA4B	10509	broad.mit.edu	37	chr15	90766838	90766841	+	Frame_Shift_Del	DEL	CCTC	CCTC	-													cagcagcgctggacctccttCctcaaggcccagctgctgtg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:90766838_90766841delCCTC	uc002boy.2	+	9	1192_1195	c.909_912delCCTC	c.(907-912)TTCCTCfs	p.F303fs	SEMA4B_uc002boz.2_Frame_Shift_Del_p.F303fs|SEMA4B_uc010uqd.1_Frame_Shift_Del_p.F141fs|SEMA4B_uc002bpa.2_Frame_Shift_Del_p.F141fs|SEMA4B_uc010bnv.1_5'UTR	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	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)			GGACCTCCTTCCTCAAGGCCCAGC	0.652													-	90766841	CCTC	-	90766838	7	5	265	1	0	1	0	1	0	0	0	0	14032	854	30	0	939	0	SEMA4B	15	90766838	Frame_Shift_Del	DEL	CCTC	TCGA-HU-A4G9-01A-11D-A24D-08	134920	90766838	11764554	674	131963											
CHD2	1106	broad.mit.edu	37	chr15	93528850	93528850	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaagcgcagagggcgtccGaggagtgtgcggaaggacct	17	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:93528850G>A	uc002bsp.2	+	26	3935	c.3360G>A	c.(3358-3360)CCG>CCA	p.P1120P	CHD2_uc002bso.1_Silent_p.P1120P	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1120					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGGGCGTCCGAGGAGTGTGC	0.532													A	93528850	G	A	93528850	2	1	265	1	0	0	0	0	0	0	0	1	3325	1045	37	1		1	CHD2	15	93528850	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2762012	93528850	9002542	675	131964											
MCTP2	55784	broad.mit.edu	37	chr15	94983445	94983445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttgaactatatatgaTccccttggcattgttgctga	8	7	0	3	rs34897570		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:94983445T>C	uc002btj.2	+	17	2191	c.2126T>C	c.(2125-2127)ATC>ACC	p.I709T	MCTP2_uc010boj.2_Missense_Mutation_p.I438T|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.I297T	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	709	Helical; (Potential).				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTATATATGATCCCCTTGGCA	0.413													C	94983445	T	C	94983445	3	2	265	1	0	0	0	0	1	0	0	0	9401	1435	50	3	2268	3	MCTP2	15	94983445	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1454595	94983445	7547947	676	131965											
LINS1	55180	broad.mit.edu	37	chr15	101110170	101110170	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attcaagaaaacaggtttctGatgaaatcaaaaagtcaaga	7	5	4	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:101110170G>T	uc002bwe.2	-	8	1838	c.1547C>A	c.(1546-1548)TCA>TAA	p.S516*	LINS1_uc002bwd.2_Nonsense_Mutation_p.S103*|LINS1_uc002bwf.2_Nonsense_Mutation_p.S516*|LINS1_uc002bwg.2_Nonsense_Mutation_p.S516*|LINS1_uc002bwh.2_Nonsense_Mutation_p.S516*	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	516											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ACAGGTTTCTGATGAAATCAA	0.299													T	101110170	G	T	101110170	4	4	265	1	0	0	0	0	0	1	0	0	8818	1294	45	5	730	5	LINS1	15	101110170	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	6126725	101110170	1421222	677	131966											
NME3	4832	broad.mit.edu	37	chr16	1820969	1820969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgagcgcccgcgaggtgCgcaccacgtccagcccctgc	13	18	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:1820969C>T	uc002cmm.2	-	4	480	c.305G>A	c.(304-306)CGC>CAC	p.R102H	NME3_uc010brv.2_RNA|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_002513	NP_002504	Q13232	NDK3_HUMAN	nucleoside diphosphate kinase 3	102					apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0						CCGCGAGGTGCGCACCACGTC	0.726													T	1820969	C	T	1820969	3	4	265	1	0	0	0	0	1	0	0	0	10492	768	27	1	212	1	NME3	16	1820969	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		1820969	88533784	678	131967											
HS3ST6	64711	broad.mit.edu	37	chr16	1961987	1961987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccacggggcccaggccGtggcggaaggccagggcgcg	20	13	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:1961987G>A	uc002cnf.2	-	2	540	c.540C>T	c.(538-540)CAC>CAT	p.H180H		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	180											0						GGCCCAGGCCGTGGCGGAAGG	0.716													A	1961987	G	A	1961987	2	1	265	1	0	0	0	0	0	0	0	1	7369	1136	40	1		1	HS3ST6	16	1961987	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	141018	1961987	88392766	679	131968											
CASKIN1	57524	broad.mit.edu	37	chr16	2231521	2231522	+	Frame_Shift_Ins	INS	-	-	C													gcgccttccggcgcagggggINScccccctcatacttggcgta							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:2231521_2231522insC	uc010bsg.1	-	18	1879_1880	c.1847_1848insG	c.(1846-1848)GGCfs	p.G616fs		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	616					signal transduction	cytoplasm				skin(2)	2						GGCGCAGGGGGCCCCCCTCATA	0.653													C	2231522	-	C	2231521	7	5	265	1	0	1	1	0	0	0	0	0	2666	1190	42	0	2459	0	CASKIN1	16	2231521	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	269534	2231521	88123232	680	131969											
CCNF	899	broad.mit.edu	37	chr16	2481176	2481176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctgttatcctacaaagcGaagaataaggaggaggcccc	10	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:2481176G>A	uc002cqd.1	+	2	150	c.62G>A	c.(61-63)CGA>CAA	p.R21Q	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	21	Nuclear localization signal 1.				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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				CCTACAAAGCGAAGAATAAGG	0.443													A	2481176	G	A	2481176	3	1	265	1	0	0	0	0	1	0	0	0	2922	1058	37	1	68	1	CCNF	16	2481176	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	249655	2481176	87873577	681	131970											
CCNF	899	broad.mit.edu	37	chr16	2489443	2489443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacctcctctgggaaagCgacaggaggacagatgtgag	13	10	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:2489443C>T	uc002cqd.1	+	7	772	c.684C>T	c.(682-684)AGC>AGT	p.S228S	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	228					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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TCTGGGAAAGCGACAGGAGGA	0.552													T	2489443	C	T	2489443	2	4	265	1	0	0	0	0	0	0	0	1	2922	767	27	1		1	CCNF	16	2489443	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	8267	2489443	87865310	682	131971											
MMP25	64386	broad.mit.edu	37	chr16	3100297	3100297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagctgagccaggagacCgtgcgggtcctcatgagcta	13	13	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3100297C>T	uc002cth.2	+	4	648	c.411C>T	c.(409-411)ACC>ACT	p.T137T	MMP25_uc002cti.1_Silent_p.T73T	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	137					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						GCCAGGAGACCGTGCGGGTCC	0.637													T	3100297	C	T	3100297	2	4	265	1	0	0	0	0	0	0	0	1	9662	639	23	1		1	MMP25	16	3100297	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	610854	3100297	87254456	683	131972											
NLRC3	197358	broad.mit.edu	37	chr16	3613679	3613679	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctacaccaaacgccttcAtgtcttgctcgtaaaacacg	7	13	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3613679A>C	uc010btn.2	-	5	1670	c.1259T>G	c.(1258-1260)ATG>AGG	p.M420R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	420	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAACGCCTTCATGTCTTGCTC	0.592													C	3613679	A	C	3613679	3	2	265	1	0	0	0	0	1	0	0	0	10468	217	8	5	2003	5	NLRC3	16	3613679	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	513382	3613679	86741074	684	131973											
BTBD12	84464	broad.mit.edu	37	chr16	3641292	3641292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgttcgcacaggtgaaCgagctcactcacgccaaacc	8	16	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3641292C>T	uc002cvp.2	-	12	2974	c.2347G>A	c.(2347-2349)GTT>ATT	p.V783I		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	783	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CACAGGTGAACGAGCTCACTC	0.587								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia		OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	T	3641292	C	T	3641292	3	4	265	1	0	0	0	0	1	0	0	0	1540	536	19	1	3173	1	BTBD12	16	3641292	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	27613	3641292	86713461	685	131974											
TRAP1	10131	broad.mit.edu	37	chr16	3716059	3716059	+	Frame_Shift_Del	DEL	T	T	-													tttgcatacttctcagcatcTtttttactctggtcaatgaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3716059delT	uc002cvt.3	-	12	1385	c.1296delA	c.(1294-1296)AAAfs	p.K432fs	TRAP1_uc002cvs.2_Frame_Shift_Del_p.K223fs|TRAP1_uc010uxf.1_Frame_Shift_Del_p.K379fs	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	432					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TCTCAGCATCTTTTTTACTCT	0.448													-	3716059	T	-	3716059	7	5	265	1	0	1	0	1	0	0	0	0	16452	1606	56	0	846	0	TRAP1	16	3716059	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	74767	3716059	86638694	686	131975											
A2BP1	54715	broad.mit.edu	37	chr16	7680608	7680608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctctttcgtaggcaCggtcctgttgtgccaggcca	10	14	2	0	rs145006582		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:7680608C>T	uc002cys.2	+	11	1668	c.680C>T	c.(679-681)ACG>ATG	p.T227M	A2BP1_uc010buf.1_Missense_Mutation_p.T227M|A2BP1_uc002cyr.1_Missense_Mutation_p.T226M|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Missense_Mutation_p.T270M|A2BP1_uc010uya.1_Missense_Mutation_p.T184M|A2BP1_uc002cyv.1_Missense_Mutation_p.T227M|A2BP1_uc010uyb.1_Missense_Mutation_p.T227M|A2BP1_uc002cyw.2_Missense_Mutation_p.T247M|A2BP1_uc002cyy.2_Missense_Mutation_p.T247M|A2BP1_uc002cyx.2_Missense_Mutation_p.T247M|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	227					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.T247M(1)			0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TTCGTAGGCACGGTCCTGTTG	0.498													T	7680608	C	T	7680608	3	4	265	1	0	0	0	0	1	0	0	0	3	536	19	1	801	1	A2BP1	16	7680608	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3964549	7680608	82674145	687	131976											
KIAA0430	9665	broad.mit.edu	37	chr16	15703435	15703435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtttggtaaacccatagTacgcaagtttgcactgccgg	11	9	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:15703435T>C	uc002ddr.2	-	20	4092	c.3899A>G	c.(3898-3900)TAC>TGC	p.Y1300C	KIAA0430_uc002ddq.2_Missense_Mutation_p.Y1134C|KIAA0430_uc010uzv.1_Missense_Mutation_p.Y1296C|KIAA0430_uc010uzw.1_Missense_Mutation_p.Y1299C	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1299						peroxisome	nucleotide binding|RNA binding				0						AAACCCATAGTACGCAAGTTT	0.388													C	15703435	T	C	15703435	3	2	265	1	0	0	0	0	1	0	0	0	8177	1638	57	3	1361	3	KIAA0430	16	15703435	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	8022827	15703435	74651318	688	131977											
SMG1	23049	broad.mit.edu	37	chr16	18846365	18846365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcttcctgtttcaagcGttccacttgtctaataagtc	7	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:18846365G>A	uc002dfm.2	-	49	8542	c.8179C>T	c.(8179-8181)CGC>TGC	p.R2727C	SMG1_uc010bwb.2_Missense_Mutation_p.R2587C|SMG1_uc010bwa.2_Missense_Mutation_p.R1458C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2727					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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGTTTCAAGCGTTCCACTTGT	0.458													A	18846365	G	A	18846365	3	1	265	1	0	0	0	0	1	0	0	0	14795	1145	40	1	2866	1	SMG1	16	18846365	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3142930	18846365	71508388	689	131978											
GDE1	51573	broad.mit.edu	37	chr16	19514884	19514884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttttcatcaaaggtatTaacagtccaaccaacaacct	3	12	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:19514884T>C	uc002dgh.2	-	6	1068	c.904A>G	c.(904-906)AAT>GAT	p.N302D	GDE1_uc002dgi.2_Missense_Mutation_p.N192D	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	302	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						TCAAAGGTATTAACAGTCCAA	0.438											OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	19514884	T	C	19514884	3	2	265	1	0	0	0	0	1	0	0	0	6310	1754	61	3	95	3	GDE1	16	19514884	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	668519	19514884	70839869	690	131979											
GPRC5B	51704	broad.mit.edu	37	chr16	19883731	19883731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcaccagcctccgcacgCgccatgcctggctcagcagg	12	19	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:19883731C>T	uc002dgt.2	-	2	545	c.437G>A	c.(436-438)CGC>CAC	p.R146H	GPRC5B_uc010vav.1_Missense_Mutation_p.R172H	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	146	Helical; Name=3; (Potential).									lung(1)|breast(1)|skin(1)	3						CCTCCGCACGCGCCATGCCTG	0.667													T	19883731	C	T	19883731	3	4	265	1	0	0	0	0	1	0	0	0	6725	768	27	1	786	1	GPRC5B	16	19883731	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	368847	19883731	70471022	691	131980											
GPR139	124274	broad.mit.edu	37	chr16	20043085	20043085	+	Frame_Shift_Del	DEL	T	T	-													atacttttataggttttccaTttttgtcatactggtacacc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:20043085delT	uc002dgu.1	-	2	1196	c.1034delA	c.(1033-1035)AATfs	p.N345fs	GPR139_uc010vaw.1_Frame_Shift_Del_p.N252fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	345	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						AGGTTTTCCATTTTTGTCATA	0.458													-	20043085	T	-	20043085	7	5	265	1	0	1	0	1	0	0	0	0	6648	1493	52	0	31	0	GPR139	16	20043085	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	159354	20043085	70311668	692	131981											
DNAH3	55567	broad.mit.edu	37	chr16	20976175	20976175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgataatccactgtaaaagCgcccaggtaagccacagttc	8	13	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:20976175C>T	uc010vbe.1	-	53	9031	c.9031G>A	c.(9031-9033)GCT>ACT	p.A3011T	DNAH3_uc010vbd.1_Missense_Mutation_p.A446T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3011					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACTGTAAAAGCGCCCAGGTAA	0.532													T	20976175	C	T	20976175	3	4	265	1	0	0	0	0	1	0	0	0	4603	768	27	1	3358	1	DNAH3	16	20976175	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	933090	20976175	69378578	693	131982											
POLR3E	55718	broad.mit.edu	37	chr16	22320299	22320299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaactattgccgcagcaaAggggagcagattgcgctgaa	12	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:22320299A>G	uc002dkk.2	+	5	375	c.219A>G	c.(217-219)AAA>AAG	p.K73K	POLR3E_uc002dkj.1_Silent_p.K73K|POLR3E_uc002dkm.2_Silent_p.K37K|POLR3E_uc010vbr.1_Silent_p.K73K|POLR3E_uc002dkl.2_Silent_p.K73K|POLR3E_uc010vbs.1_Silent_p.K37K|POLR3E_uc010vbt.1_Silent_p.K17K	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	73					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			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		GCCGCAGCAAAGGGGAGCAGA	0.622													G	22320299	A	G	22320299	2	3	265	1	0	0	0	0	0	0	0	1	12232	69	3	3		3	POLR3E	16	22320299	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1344124	22320299	68034454	694	131983											
XPO6	23214	broad.mit.edu	37	chr16	28112798	28112798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgatccatcttgaaattcCgccccagcacacttttctgg	6	16	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:28112798C>T	uc002dpa.1	-	23	3758	c.3257G>A	c.(3256-3258)CGG>CAG	p.R1086Q	XPO6_uc002dpb.1_Missense_Mutation_p.R1072Q|XPO6_uc010vcp.1_Missense_Mutation_p.R1085Q	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	1086					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						CTTGAAATTCCGCCCCAGCAC	0.587													T	28112798	C	T	28112798	3	4	265	1	0	0	0	0	1	0	0	0	17445	652	23	1	128	1	XPO6	16	28112798	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	5792499	28112798	62241955	695	131984											
ATP2A1	487	broad.mit.edu	37	chr16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C													acctggacatcatggaccgcINScccccccggagccccaagga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|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	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|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						ATCATGGACCGCCCCCCCCGGA	0.658													C	28913641	-	C	28913640	7	5	265	1	0	1	1	0	0	0	0	0	1136	726	26	0	2523	0	ATP2A1	16	28913640	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	800842	28913640	61441113	696	131985											
C16orf92	146378	broad.mit.edu	37	chr16	30035069	30035069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagacccaagcgtgccaCggcgtcagccctggggacag	13	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:30035069C>T	uc002dvs.2	+	2	173	c.152C>T	c.(151-153)ACG>ATG	p.T51M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.T29M	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN	hypothetical protein LOC146378 isoform 2	51						integral to membrane					0						AAGCGTGCCACGGCGTCAGCC	0.597													T	30035069	C	T	30035069	3	4	265	1	0	0	0	0	1	0	0	0	1845	536	19	1	172	1	C16orf92	16	30035069	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1121429	30035069	60319684	697	131986											
SRCAP	10847	broad.mit.edu	37	chr16	30734923	30734923	+	Frame_Shift_Del	DEL	C	C	-													agcttcagcccccggagctgCccccttgaccatctcttctc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:30734923delC	uc002dze.1	+	25	4563	c.4178delC	c.(4177-4179)GCCfs	p.A1393fs	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A1188fs|SRCAP_uc010bzz.1_Frame_Shift_Del_p.A963fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1393	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCCGGAGCTGCCCCCTTGACC	0.572													-	30734923	C	-	30734923	7	5	265	1	0	1	0	1	0	0	0	0	15134	739	26	0	4268	0	SRCAP	16	30734923	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	699854	30734923	59619830	698	131987											
PHKG2	5261	broad.mit.edu	37	chr16	30768156	30768156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacagtgctggctgctggacGagtggccctaagcacccatc	13	13	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:30768156G>A	uc002dzk.1	+	10	1052	c.959G>A	c.(958-960)CGA>CAA	p.R320Q	PHKG2_uc002dzi.1_Missense_Mutation_p.R324Q|PHKG2_uc002dzj.1_Missense_Mutation_p.R218Q	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	320	Calmodulin-binding (domain-N) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			GCTGCTGGACGAGTGGCCCTA	0.607													A	30768156	G	A	30768156	3	1	265	1	0	0	0	0	1	0	0	0	11847	1058	37	1	993	1	PHKG2	16	30768156	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	33233	30768156	59586597	699	131988											
MYLK3	91807	broad.mit.edu	37	chr16	46763518	46763518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcacccggtccttggcGctcttcactttgatgatctt	8	14	4	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:46763518G>A	uc002eei.3	-	6	1766	c.1650C>T	c.(1648-1650)AGC>AGT	p.S550S	MYLK3_uc010vge.1_Silent_p.S209S|MYLK3_uc002eej.1_Silent_p.S209S	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	550	Protein kinase.				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			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTCCTTGGCGCTCTTCACTT	0.622													A	46763518	G	A	46763518	2	1	265	1	0	0	0	0	0	0	0	1	10058	1078	38	1		1	MYLK3	16	46763518	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	15995362	46763518	43591235	700	131989											
LONP2	83752	broad.mit.edu	37	chr16	48296693	48296693	+	Frame_Shift_Del	DEL	A	A	-													tattctttctccacagactcAaaaaaatgcctcagtcaatg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:48296692_48296692CA>C	uc002efi.1	+	5	980	c.891_891CA>C	c.(889-891)ctcfs	p.L297fs	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Frame_Shift_Del_p.L253fs	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	297					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						TCCACAGACTCAAAAAAATGC	0.353													-	48296693	A	-	48296693	7	5	265	1	0	1	0	1	0	0	0	0	8893	131	5	0	914	0	LONP2	16	48296693	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1533175	48296693	42058060	701	131990											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53692344	53692344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttataagtaggagagcTtcactcaattcatcagcatt	6	9	4	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:53692344T>G	uc002ehp.2	-	12	1447	c.1383A>C	c.(1381-1383)GAA>GAC	p.E461D	RPGRIP1L_uc002eho.3_Missense_Mutation_p.E461D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E461D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E461D|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E461D	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	461	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				GTAGGAGAGCTTCACTCAATT	0.343													G	53692344	T	G	53692344	3	3	265	1	0	0	0	0	1	0	0	0	13550	1606	56	5	2628	5	RPGRIP1L	16	53692344	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	5395651	53692344	36662409	702	131991											
CDH16	1014	broad.mit.edu	37	chr16	66946430	66946430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgatgaactcaggggCgtgatcattgatatctgtga	14	5	3	5			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:66946430C>T	uc002eql.2	-	11	1409	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	CDH16_uc010cdy.2_Missense_Mutation_p.A446T|CDH16_uc002eqm.2_Missense_Mutation_p.A349T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	446	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AACTCAGGGGCGTGATCATTG	0.577													T	66946430	C	T	66946430	3	4	265	1	0	0	0	0	1	0	0	0	3101	768	27	1	1185	1	CDH16	16	66946430	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	13254086	66946430	23408323	703	131992											
ELMO3	79767	broad.mit.edu	37	chr16	67234150	67234150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaacagtcctgaagggcGccgggaagccctgaggcgcc	16	12	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:67234150G>A	uc002esa.2	+	5	501	c.458G>A	c.(457-459)CGC>CAC	p.R153H	ELMO3_uc002esb.2_Missense_Mutation_p.R136H|ELMO3_uc002esc.2_5'UTR	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	100					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCTGAAGGGCGCCGGGAAGCC	0.607													A	67234150	G	A	67234150	3	1	265	1	0	0	0	0	1	0	0	0	5067	1087	38	1	476	1	ELMO3	16	67234150	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	287720	67234150	23120603	704	131993											
DUS2L	54920	broad.mit.edu	37	chr16	68109393	68109393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgtcattaagatggcTgtcaagtttgaccggtaggt	13	6	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:68109393T>C	uc002evi.2	+	14	1217	c.1068T>C	c.(1066-1068)GCT>GCC	p.A356A	DUS2L_uc002evj.2_Silent_p.A356A|DUS2L_uc010vkk.1_Silent_p.A321A|DUS2L_uc010cez.2_Silent_p.A269A	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	356					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TTAAGATGGCTGTCAAGTTTG	0.597													C	68109393	T	C	68109393	2	2	265	1	0	0	0	0	0	0	0	1	4806	1567	55	3		3	DUS2L	16	68109393	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	875243	68109393	22245360	705	131994											
PRMT7	54496	broad.mit.edu	37	chr16	68373281	68373281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgcacagctggtggagtcCgggaggatgtggtcgtggaa	18	6	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:68373281C>T	uc002evy.1	+	8	837	c.561C>T	c.(559-561)TCC>TCT	p.S187S	PRMT7_uc002evx.1_Silent_p.S187S|PRMT7_uc010vlg.1_Silent_p.S137S|PRMT7_uc002evz.1_Silent_p.S33S	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	187					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				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGTGGAGTCCGGGAGGATGT	0.522													T	68373281	C	T	68373281	2	4	265	1	0	0	0	0	0	0	0	1	12541	639	23	1		1	PRMT7	16	68373281	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	263888	68373281	21981472	706	131995											
CHST4	10164	broad.mit.edu	37	chr16	71571181	71571181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccctcaacctgcatatcGtgcacctggtccgggacccc	8	19	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:71571181G>A	uc002fan.2	+	2	782	c.601G>A	c.(601-603)GTG>ATG	p.V201M	CHST4_uc002fao.2_Missense_Mutation_p.V201M	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	201	Lumenal (Potential).				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				0						CCTGCATATCGTGCACCTGGT	0.602													A	71571181	G	A	71571181	3	1	265	1	0	0	0	0	1	0	0	0	3406	1145	40	1	603	1	CHST4	16	71571181	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3197900	71571181	18783572	707	131996											
RFWD3	55159	broad.mit.edu	37	chr16	74670377	74670377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggtacttgtgcttgtgCtggccctggctggagggtga	17	7	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:74670377C>T	uc002fda.2	-	8	1391	c.1293G>A	c.(1291-1293)CAG>CAA	p.Q431Q	RFWD3_uc010cgq.2_Silent_p.Q431Q	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	431					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			lung(2)|breast(1)	3						TGTGCTTGTGCTGGCCCTGGC	0.517													T	74670377	C	T	74670377	2	4	265	1	0	0	0	0	0	0	0	1	13261	796	28	2		2	RFWD3	16	74670377	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3099196	74670377	15684376	708	131997											
ADAMTS18	170692	broad.mit.edu	37	chr16	77353960	77353960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttcgatgcttcgggcgCcagctggaatgaggaccacc	14	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:77353960C>T	uc002ffc.3	-	16	2737	c.2318G>A	c.(2317-2319)GGC>GAC	p.G773D	ADAMTS18_uc010chc.1_Missense_Mutation_p.G361D|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G469D	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	773	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCTTCGGGCGCCAGCTGGAAT	0.507													T	77353960	C	T	77353960	3	4	265	1	0	0	0	0	1	0	0	0	263	739	26	2	1379	2	ADAMTS18	16	77353960	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2683583	77353960	13000793	709	131998											
KIAA1609	57707	broad.mit.edu	37	chr16	84522882	84522882	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcgtccacgcacacttGccttgcagcttcatgtcaga	8	16	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:84522882G>A	uc002fib.2	-	4	636	c.529_splice	c.e4+1	p.D177_splice	KIAA1609_uc010vod.1_Splice_Site_p.D150_splice|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707								protein binding			ovary(2)	2						ACGCACACTTGCCTTGCAGCT	0.408													A	84522882	G	A	84522882	5	1	265	1	0	0	0	0	0	0	1	0	8247	1333	46	2	859	2	KIAA1609	16	84522882	Splice_Site	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7168922	84522882	5831871	710	131999											
KIAA1609	57707	broad.mit.edu	37	chr16	84531619	84531619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagcatcaaacaattgaTcaatctctgcctgttcctca	5	12	4	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:84531619T>C	uc002fib.2	-	2	181	c.74A>G	c.(73-75)GAT>GGT	p.D25G	KIAA1609_uc010vod.1_5'UTR|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	25							protein binding			ovary(2)	2						AAACAATTGATCAATCTCTGC	0.473													C	84531619	T	C	84531619	3	2	265	1	0	0	0	0	1	0	0	0	8247	1435	50	3	1324	3	KIAA1609	16	84531619	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	8737	84531619	5823134	711	132000											
FAM92B	339145	broad.mit.edu	37	chr16	85135924	85135924	+	Frame_Shift_Del	DEL	A	A	-													ctcaatagttacaaagtcacAaaaaaatttctgtggggaga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:85135924delA	uc010vok.1	-	6	703	c.547delT	c.(547-549)TGTfs	p.C183fs		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	183										central_nervous_system(1)	1						ACAAAGTCACAAAAAAATTTC	0.507													-	85135924	A	-	85135924	7	5	265	1	0	1	0	1	0	0	0	0	5653	130	5	0	379	0	FAM92B	16	85135924	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	604305	85135924	5218829	712	132001											
MTHFSD	64779	broad.mit.edu	37	chr16	86565765	86565765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccctgccaggtgagcCgcaggggcacggagccgagt	19	13	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:86565765C>T	uc002fjn.2	-	8	1055	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	MTHFSD_uc010voo.1_Missense_Mutation_p.R315Q|MTHFSD_uc002fjo.2_Missense_Mutation_p.R172Q|MTHFSD_uc002fjm.2_Missense_Mutation_p.R334Q|MTHFSD_uc010vop.1_Missense_Mutation_p.R172Q|MTHFSD_uc010voq.1_Missense_Mutation_p.R334Q|MTHFSD_uc010vor.1_Missense_Mutation_p.R335Q	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	335	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						CCAGGTGAGCCGCAGGGGCAC	0.706													T	86565765	C	T	86565765	3	4	265	1	0	0	0	0	1	0	0	0	9933	652	23	1	151	1	MTHFSD	16	86565765	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1429841	86565765	3788988	713	132002											
ZC3H18	124245	broad.mit.edu	37	chr16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-													cctcgacaccccagcaggcaCcccccgggcagccccagcag							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						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)		CCCAGCAGGCACCCCCCGGGC	0.607													-	88694459	C	-	88694459	7	5	265	1	0	1	0	1	0	0	0	0	17565	507	18	0	2455	0	ZC3H18	16	88694459	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	2128694	88694459	1660294	714	132003											
CBFA2T3	863	broad.mit.edu	37	chr16	88958765	88958765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgagctgccgggcccCgcaggctgggggcaggtgct	18	13	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:88958765C>T	uc002fmm.1	-	4	694	c.508G>A	c.(508-510)GGG>AGG	p.G170R	CBFA2T3_uc002fml.1_Missense_Mutation_p.G84R|CBFA2T3_uc010cif.1_Missense_Mutation_p.G109R|CBFA2T3_uc002fmn.1_Missense_Mutation_p.G145R	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	170	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCCGGGCCCCGCAGGCTGGG	0.647			T	RUNX1	AML								T	88958765	C	T	88958765	3	4	265	1	0	0	0	0	1	0	0	0	2698	652	23	1	1489	1	CBFA2T3	16	88958765	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	264306	88958765	1395988	715	132004											
CBFA2T3	863	broad.mit.edu	37	chr16	88967982	88967982	+	Frame_Shift_Del	DEL	G	G	-													ggcggtgggggcggcatgctGgggggtgtggaccggggctg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:88967981_88967981TG>T	uc002fmm.2	-	1	524	c.235_235CA>A	c.(235-237)agcfs	p.S79fs	CBFA2T3_uc002fml.2_Frame_Shift_Del_p.S18fs|CBFA2T3_uc010cif.1_Frame_Shift_Del_p.S18fs|CBFA2T3_uc002fmn.2_Frame_Shift_Del_p.S79fs	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	79	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				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)		GGCGGCATGCTGGGGGGTGTG	0.701			T	RUNX1	AML								-	88967982	G	-	88967982	7	5	265	1	0	1	0	1	0	0	0	0	2698	1335	47	0	1771	0	CBFA2T3	16	88967982	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	9217	88967982	1386771	716	132005											
MYO1C	4641	broad.mit.edu	37	chr17	1381382	1381382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggctagcacacaccGcgatgccctctgcctcgtac	8	20	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:1381382G>A	uc002fsp.2	-	12	1620	c.1400C>T	c.(1399-1401)GCG>GTG	p.A467V	MYO1C_uc002fsn.2_Missense_Mutation_p.A448V|MYO1C_uc002fso.2_Missense_Mutation_p.A432V|MYO1C_uc010vqj.1_Missense_Mutation_p.A432V|MYO1C_uc010vqk.1_Missense_Mutation_p.A443V	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	467	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				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCACACACCGCGATGCCCTC	0.632													A	1381382	G	A	1381382	3	1	265	1	0	0	0	0	1	0	0	0	10070	1101	38	1	1875	1	MYO1C	17	1381382	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08		1381382	79813828	717	132006											
ANKFY1	51479	broad.mit.edu	37	chr17	4075887	4075887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccggcttgtccagaggatAccccggcatgcattctagga	11	12	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:4075887A>G	uc002fxq.1	-	22	3141	c.3103T>C	c.(3103-3105)TAT>CAT	p.Y1035H	ANKFY1_uc002fxn.2_Missense_Mutation_p.Y1077H|ANKFY1_uc002fxo.2_Missense_Mutation_p.Y1036H|ANKFY1_uc002fxp.2_Missense_Mutation_p.Y1034H|ANKFY1_uc010ckp.2_Missense_Mutation_p.Y977H	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1035	ANK 20.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCCAGAGGATACCCCGGCATG	0.532													G	4075887	A	G	4075887	3	3	265	1	0	0	0	0	1	0	0	0	626	391	14	3	422	3	ANKFY1	17	4075887	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2694505	4075887	77119323	718	132007											
PELP1	27043	broad.mit.edu	37	chr17	4574987	4574987	+	Frame_Shift_Del	DEL	T	T	-													tccctgcctggcctctcaccTtttcctggagagcttcggcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:4574987delT	uc002fyi.3	-	16	3525	c.3299delA	c.(3298-3300)AAGfs	p.K1100fs	PELP1_uc010vsf.1_Frame_Shift_Del_p.K876fs	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1100	Glu-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GCCTCTCACCTTTTCCTGGAG	0.602													-	4574987	T	-	4574987	7	5	265	1	0	1	0	1	0	0	0	0	11725	1623	56	0	101	0	PELP1	17	4574987	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	499100	4574987	76620223	719	132008											
NLRP1	22861	broad.mit.edu	37	chr17	5462048	5462048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtattccatatgcttctagCgtcttttccaaatctatgat	5	9	3	1	rs139136010		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:5462048C>T	uc002gci.2	-	4	2523	c.1968G>A	c.(1966-1968)ACG>ACA	p.T656T	NLRP1_uc002gcg.1_Silent_p.T656T|NLRP1_uc002gck.2_Silent_p.T656T|NLRP1_uc002gcj.2_Silent_p.T656T|NLRP1_uc002gcl.2_Silent_p.T656T|NLRP1_uc002gch.3_Silent_p.T656T|NLRP1_uc010clh.2_Silent_p.T656T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	656					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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				ATGCTTCTAGCGTCTTTTCCA	0.448													T	5462048	C	T	5462048	2	4	265	1	0	0	0	0	0	0	0	1	10471	755	27	1		1	NLRP1	17	5462048	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	887061	5462048	75733162	720	132009											
RCVRN	5957	broad.mit.edu	37	chr17	9804342	9804342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtacttccagatcttctCggctcgcttttccggcgtgt	9	12	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:9804342C>T	uc002gme.1	-	2	644	c.457G>A	c.(457-459)GAG>AAG	p.E153K		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	153	EF-hand 4.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						CAGATCTTCTCGGCTCGCTTT	0.433													T	9804342	C	T	9804342	3	4	265	1	0	0	0	0	1	0	0	0	13186	893	31	1	153	1	RCVRN	17	9804342	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4342294	9804342	71390868	721	132010											
MYH2	4620	broad.mit.edu	37	chr17	10428368	10428368	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggatctttccctcttcAtgttcaagagatgccttaat	7	11	4	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:10428368A>G	uc010coi.2	-	34	4805	c.4677T>C	c.(4675-4677)CAT>CAC	p.H1559H	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.H1559H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1559	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTCCCTCTTCATGTTCAAGAG	0.408													G	10428368	A	G	10428368	2	3	265	1	0	0	0	0	0	0	0	1	10035	214	8	3		3	MYH2	17	10428368	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	624026	10428368	70766842	722	132011											
NCOR1	9611	broad.mit.edu	37	chr17	15971282	15971282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgataaacctcgcctGcagtgctgcctctgtgatgg	12	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:15971282G>A	uc002gpo.2	-	32	4907	c.4667C>T	c.(4666-4668)GCA>GTA	p.A1556V	NCOR1_uc002gpn.2_Missense_Mutation_p.A1572V|NCOR1_uc002gpm.2_Missense_Mutation_p.A77V|NCOR1_uc010vwb.1_Missense_Mutation_p.A140V|NCOR1_uc010coy.2_Missense_Mutation_p.A464V|NCOR1_uc010vwc.1_Missense_Mutation_p.A367V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1556	Interaction with ETO.|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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AACCTCGCCTGCAGTGCTGCC	0.542													A	15971282	G	A	15971282	3	1	265	1	0	0	0	0	1	0	0	0	10235	1319	46	2	2715	2	NCOR1	17	15971282	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5542914	15971282	65223928	723	132012											
RAI1	10743	broad.mit.edu	37	chr17	17698048	17698048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgagcgggactgtccgCggctgctgctcagcgccctg	17	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:17698048C>T	uc002grm.2	+	3	2255	c.1786C>T	c.(1786-1788)CGG>TGG	p.R596W	RAI1_uc002grn.1_Missense_Mutation_p.R596W	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	596						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGACTGTCCGCGGCTGCTGCT	0.637													T	17698048	C	T	17698048	3	4	265	1	0	0	0	0	1	0	0	0	13007	759	27	1	1788	1	RAI1	17	17698048	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1726766	17698048	63497162	724	132013											
MYO15A	51168	broad.mit.edu	37	chr17	18022386	18022386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctcatgacgcagatgcGcatgggcaagaagaagcggg	15	8	1	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:18022386G>A	uc010vxh.1	+	2	610	c.272G>A	c.(271-273)CGC>CAC	p.R91H		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	91	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					ACGCAGATGCGCATGGGCAAG	0.662													A	18022386	G	A	18022386	3	1	265	1	0	0	0	0	1	0	0	0	10063	1087	38	1	274	1	MYO15A	17	18022386	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	324338	18022386	63172824	725	132014											
MYO15A	51168	broad.mit.edu	37	chr17	18054840	18054840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggcctgaggccctcAggtcagcactgcccctgccc	13	18	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:18054840A>G	uc010vxh.1	+	39	8124	c.7786A>G	c.(7786-7788)AGG>GGG	p.R2596G	MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2596	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGAGGCCCTCAGGTCAGCACT	0.632													G	18054840	A	G	18054840	3	3	265	1	0	0	0	0	1	0	0	0	10063	202	7	3	7936	3	MYO15A	17	18054840	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	32454	18054840	63140370	726	132015											
SMCR7	125170	broad.mit.edu	37	chr17	18167652	18167652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctggggtcgatgctgaCgaccgcctcctcttggcctg	13	15	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:18167652C>T	uc002gst.2	+	4	1150	c.939C>T	c.(937-939)GAC>GAT	p.D313D	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.D324D	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	313						integral to membrane	protein binding				0	all_neural(463;0.228)					TCGATGCTGACGACCGCCTCC	0.682													T	18167652	C	T	18167652	2	4	265	1	0	0	0	0	0	0	0	1	14790	535	19	1		1	SMCR7	17	18167652	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	112812	18167652	63027558	727	132016											
KSR1	8844	broad.mit.edu	37	chr17	25909964	25909964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagcttcatcaccccGcccaccacaccccagctgcg	6	22	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:25909964G>A	uc010crg.2	+	5	847	c.402G>A	c.(400-402)CCG>CCA	p.P134P	KSR1_uc002gzj.1_RNA	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	269					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCATCACCCCGCCCACCACAC	0.697													A	25909964	G	A	25909964	2	1	265	1	0	0	0	0	0	0	0	1	8581	1074	38	1		1	KSR1	17	25909964	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7742312	25909964	55285246	728	132017											
KIAA0100	9703	broad.mit.edu	37	chr17	26961947	26961947	+	Frame_Shift_Del	DEL	A	A	-													ttatcatgaagtttcacctcAaaaacatcatccaagaaaac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:26961947delA	uc002hbu.2	-	16	2757	c.2658delT	c.(2656-2658)TTTfs	p.F886fs		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	886						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GTTTCACCTCAAAAACATCAT	0.483													-	26961947	A	-	26961947	7	5	265	1	0	1	0	1	0	0	0	0	8154	127	5	0	4145	0	KIAA0100	17	26961947	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	1051983	26961947	54233263	729	132018											
ERAL1	26284	broad.mit.edu	37	chr17	27182060	27182060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcggctgtaatggctgCccccagctggcgcggggcta	15	14	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:27182060C>T	uc002hcy.1	+	1	18	c.8C>T	c.(7-9)GCC>GTC	p.A3V	ERAL1_uc002hcx.1_Missense_Mutation_p.A3V|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1	3					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			skin(1)	1	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTAATGGCTGCCCCCAGCTGG	0.612													T	27182060	C	T	27182060	3	4	265	1	0	0	0	0	1	0	0	0	5202	739	26	2	10	2	ERAL1	17	27182060	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	220113	27182060	54013150	730	132019											
ACACA	31	broad.mit.edu	37	chr17	35641758	35641758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttctcaatcactttatttCccccaaagcgagtaacaaat	3	13	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:35641758C>T	uc002hnm.2	-	4	532	c.341G>A	c.(340-342)GGA>GAA	p.G114E	ACACA_uc002hnk.2_Missense_Mutation_p.G36E|ACACA_uc002hnl.2_Missense_Mutation_p.G56E|ACACA_uc002hnn.2_Missense_Mutation_p.G114E|ACACA_uc002hno.2_Missense_Mutation_p.G151E|ACACA_uc010cuz.2_Missense_Mutation_p.G114E|ACACA_uc002hnq.2_Missense_Mutation_p.G36E|ACACA_uc002hnp.1_RNA	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	114					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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CACTTTATTTCCCCCAAAGCG	0.398													T	35641758	C	T	35641758	3	4	265	1	0	0	0	0	1	0	0	0	106	855	30	4	6911	4	ACACA	17	35641758	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	8459698	35641758	45553452	731	132020											
WIPF2	147179	broad.mit.edu	37	chr17	38412743	38412743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccccgccacccccacCtggtcctcctccacctccca	3	27	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:38412743C>T	uc002hug.1	+	2	272	c.32C>T	c.(31-33)CCT>CTT	p.P11L	WIPF2_uc010cwv.1_Missense_Mutation_p.P11L|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_Intron|WIPF2_uc002hui.1_Missense_Mutation_p.P11L|WIPF2_uc010cwx.1_Missense_Mutation_p.P11L|WIPF2_uc010cwy.1_Missense_Mutation_p.P11L	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	11	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CCACCCCCACCTGGTCCTCCT	0.483										HNSCC(43;0.11)			T	38412743	C	T	38412743	3	4	265	1	0	0	0	0	1	0	0	0	17365	681	24	4	34	4	WIPF2	17	38412743	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2770985	38412743	42782467	732	132021											
FKBP10	60681	broad.mit.edu	37	chr17	39977935	39977935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggcagtgctgtgctgCtgtttgaggtggagctggtg	17	8	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:39977935C>T	uc002hxv.2	+	9	1754	c.1429C>T	c.(1429-1431)CTG>TTG	p.L477L	FKBP10_uc002hxw.1_Silent_p.L241L	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	477	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGCTGTGCTGCTGTTTGAGGT	0.632													T	39977935	C	T	39977935	2	4	265	1	0	0	0	0	0	0	0	1	5902	796	28	2		2	FKBP10	17	39977935	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1565192	39977935	41217275	733	132022											
NBR1	4077	broad.mit.edu	37	chr17	41345516	41345516	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacttcccattggcgtctttCtcacaaaggccagcaatttg	7	12	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:41345516C>T	uc010czd.2	+	12	1525	c.1385C>T	c.(1384-1386)TCT>TTT	p.S462F	NBR1_uc010diz.2_Missense_Mutation_p.S462F|NBR1_uc010whu.1_Missense_Mutation_p.S462F|NBR1_uc010whv.1_Missense_Mutation_p.S462F|NBR1_uc010whw.1_Missense_Mutation_p.S441F|NBR1_uc010whx.1_Missense_Mutation_p.S271F	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	462					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGGCGTCTTTCTCACAAAGGC	0.522													T	41345516	C	T	41345516	3	4	265	1	0	0	0	0	1	0	0	0	10200	913	32	4	1427	4	NBR1	17	41345516	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1367581	41345516	39849694	734	132023											
ATXN7L3	56970	broad.mit.edu	37	chr17	42274991	42274991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcatgctatcagggtcCgtgtcgtccaagaagaagta	10	10	2	2	rs142032853	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:42274991C>T	uc002iga.2	-	2	250	c.159G>A	c.(157-159)ACG>ACA	p.T53T	ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Silent_p.T53T	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	53					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				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TATCAGGGTCCGTGTCGTCCA	0.532													T	42274991	C	T	42274991	2	4	265	1	0	0	0	0	0	0	0	1	1218	639	23	1		1	ATXN7L3	17	42274991	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	929475	42274991	38920219	735	132024											
TBX21	30009	broad.mit.edu	37	chr17	45822626	45822626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagactctaagaggaggcGcgtgtccccctatccttcca	11	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:45822626G>A	uc002ilv.1	+	6	1713	c.1502G>A	c.(1501-1503)CGC>CAC	p.R501H		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	501					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				0						AAGAGGAGGCGCGTGTCCCCC	0.572													A	45822626	G	A	45822626	3	1	265	1	0	0	0	0	1	0	0	0	15654	1087	38	1	1524	1	TBX21	17	45822626	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3547635	45822626	35372584	736	132025											
SGCA	6442	broad.mit.edu	37	chr17	48246578	48246578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgctacgacaccttggCaccccacttccgcgttgact	8	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:48246578C>T	uc002iqi.2	+	6	746	c.710C>T	c.(709-711)GCA>GTA	p.A237V	SGCA_uc010wmh.1_Missense_Mutation_p.A135V|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	237	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						GACACCTTGGCACCCCACTTC	0.642											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48246578	C	T	48246578	3	4	265	1	0	0	0	0	1	0	0	0	14199	710	25	2	732	2	SGCA	17	48246578	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2423952	48246578	32948632	737	132026											
CUEDC1	404093	broad.mit.edu	37	chr17	55962835	55962835	+	Frame_Shift_Del	DEL	G	G	-													ccggctgttgttgagctcctGgggggcggccgtgcctcccc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:55962835delG	uc002ivd.1	-	2	810	c.91delC	c.(91-93)CAGfs	p.Q31fs	CUEDC1_uc002ive.1_Frame_Shift_Del_p.Q31fs	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	31										skin(2)	2						TTGAGCTCCTggggggcggcc	0.443													-	55962835	G	-	55962835	7	5	265	1	0	1	0	1	0	0	0	0	4052	1357	47	0	1105	0	CUEDC1	17	55962835	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	7716257	55962835	25232375	738	132027											
DYNLL2	140735	broad.mit.edu	37	chr17	56166533	56166533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatataaccctacctggCattgtatcgtgggccgaaat	9	9	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:56166533C>T	uc010wnn.1	+	3	437	c.163C>T	c.(163-165)CAT>TAT	p.H55Y		NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	55					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				0						CCCTACCTGGCATTGTATCGT	0.413													T	56166533	C	T	56166533	3	4	265	1	0	0	0	0	1	0	0	0	4849	710	25	2	169	2	DYNLL2	17	56166533	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	203698	56166533	25028677	739	132028											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	265	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	268628	56435161	24760049	740	132029											
MAP3K3	4215	broad.mit.edu	37	chr17	61769160	61769160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgacccgaaagtacacgcGgcagatcctggagggcatgt	14	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:61769160G>A	uc002jbg.2	+	14	1731	c.1412G>A	c.(1411-1413)CGG>CAG	p.R471Q	MAP3K3_uc002jbe.2_Missense_Mutation_p.R502Q|MAP3K3_uc002jbf.2_Missense_Mutation_p.R502Q|MAP3K3_uc002jbh.2_Missense_Mutation_p.R498Q|MAP3K3_uc010wpo.1_Missense_Mutation_p.R386Q|MAP3K3_uc010wpp.1_Missense_Mutation_p.R467Q	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	471	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			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						AAGTACACGCGGCAGATCCTG	0.448													A	61769160	G	A	61769160	3	1	265	1	0	0	0	0	1	0	0	0	9251	1116	39	1	1563	1	MAP3K3	17	61769160	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	5333999	61769160	19426050	741	132030											
SCN4A	6329	broad.mit.edu	37	chr17	62019107	62019107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaacatatcatcgatgCccgactccttcttgacgtag	8	11	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:62019107C>T	uc002jds.1	-	24	4612	c.4535G>A	c.(4534-4536)GGC>GAC	p.G1512D		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1512	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	ATCATCGATGCCCGACTCCTT	0.557													T	62019107	C	T	62019107	3	4	265	1	0	0	0	0	1	0	0	0	13920	739	26	2	979	2	SCN4A	17	62019107	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	249947	62019107	19176103	742	132031											
SCN4A	6329	broad.mit.edu	37	chr17	62038590	62038590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgttgtcaaagtgctccGtcatggggtaatgttccatg	12	9	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:62038590G>A	uc002jds.1	-	11	1885	c.1808C>T	c.(1807-1809)ACG>ATG	p.T603M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	603	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AAAGTGCTCCGTCATGGGGTA	0.592													A	62038590	G	A	62038590	3	1	265	1	0	0	0	0	1	0	0	0	13920	1145	40	1	3758	1	SCN4A	17	62038590	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	19483	62038590	19156620	743	132032											
RGS9	8787	broad.mit.edu	37	chr17	63221121	63221121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttccttctctacagcCgggccagcacatggctccca	7	18	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:63221121C>T	uc002jfe.2	+	18	1519	c.1409C>T	c.(1408-1410)CCG>CTG	p.P470L	RGS9_uc010dem.2_Missense_Mutation_p.P467L|RGS9_uc002jfd.2_Missense_Mutation_p.P467L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P241L	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	470					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			ovary(2)|skin(2)	4						TCTCTACAGCCGGGCCAGCAC	0.647													T	63221121	C	T	63221121	3	4	265	1	0	0	0	0	1	0	0	0	13313	666	23	1	1534	1	RGS9	17	63221121	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1182531	63221121	17974089	744	132033											
CACNG1	786	broad.mit.edu	37	chr17	65052208	65052208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcggcagtcggtgaagCgcatgattgacagtgaggac	15	8	1	4	rs143055819	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:65052208C>T	uc002jfu.2	+	4	561	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	164					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	GTCGGTGAAGCGCATGATTGA	0.617													T	65052208	C	T	65052208	3	4	265	1	0	0	0	0	1	0	0	0	2556	768	27	1	504	1	CACNG1	17	65052208	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1831087	65052208	16143002	745	132034											
ITGB4	3691	broad.mit.edu	37	chr17	73728294	73728294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacggagacttcgtgtgCggacagtgtgtgtgcagcga	15	8	1	1	rs149030156	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:73728294C>T	uc002jpg.2	+	12	1615	c.1428C>T	c.(1426-1428)TGC>TGT	p.C476C	ITGB4_uc002jph.2_Silent_p.C476C|ITGB4_uc010dgo.2_Silent_p.C476C|ITGB4_uc002jpi.3_Silent_p.C476C|ITGB4_uc010dgp.1_Silent_p.C476C|ITGB4_uc002jpj.2_Silent_p.C476C|ITGB4_uc010wsh.1_Silent_p.C31C	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	476	I.|Extracellular (Potential).|Cysteine-rich tandem repeats.				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			lung(4)	4	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)			ACTTCGTGTGCGGACAGTGTG	0.647													T	73728294	C	T	73728294	2	4	265	1	0	0	0	0	0	0	0	1	7897	776	27	1		1	ITGB4	17	73728294	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	8676086	73728294	7466916	746	132035											
ITGB4	3691	broad.mit.edu	37	chr17	73753610	73753610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggaacccttagcacccacAtggaccaacagttcttccaa	7	15	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:73753610A>G	uc002jpg.2	+	40	5630	c.5443A>G	c.(5443-5445)ATG>GTG	p.M1815V	ITGB4_uc002jph.2_Missense_Mutation_p.M1745V|ITGB4_uc002jpi.3_Missense_Mutation_p.M1745V|ITGB4_uc002jpj.2_Missense_Mutation_p.M1798V|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1815	Cytoplasmic (Potential).				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			lung(4)	4	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)			TAGCACCCACATGGACCAACA	0.662													G	73753610	A	G	73753610	3	3	265	1	0	0	0	0	1	0	0	0	7897	217	8	3	5760	3	ITGB4	17	73753610	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	25316	73753610	7441600	747	132036											
EXOC7	23265	broad.mit.edu	37	chr17	74087253	74087253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaggttagagccccccTttttcccatctagaccatgc	8	13	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:74087253T>C	uc002jqs.2	-	7	967	c.872A>G	c.(871-873)AAG>AGG	p.K291R	EXOC7_uc010dgv.1_Missense_Mutation_p.K238R|EXOC7_uc002jqq.2_Missense_Mutation_p.K291R|EXOC7_uc010wsw.1_Missense_Mutation_p.K291R|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Missense_Mutation_p.K250R	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	291					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			AGAGCCCCCCTTTTTCCCATC	0.542													C	74087253	T	C	74087253	3	2	265	1	0	0	0	0	1	0	0	0	5310	1609	56	3	1391	3	EXOC7	17	74087253	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	333643	74087253	7107957	748	132037											
JMJD6	23210	broad.mit.edu	37	chr17	74714828	74714828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcacctggaggagctgcGctctttgctgacacagtcgt	14	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:74714828G>A	uc002jso.2	-	6	1519	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C	JMJD6_uc002jsn.1_Missense_Mutation_p.R399C|JMJD6_uc010dgz.2_Silent_p.S352S	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	399					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						GAGGAGCTGCGCTCTTTGCTG	0.642													A	74714828	G	A	74714828	3	1	265	1	0	0	0	0	1	0	0	0	7953	1087	38	1	61	1	JMJD6	17	74714828	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	627575	74714828	6480382	749	132038											
TNRC6C	57690	broad.mit.edu	37	chr17	76047106	76047107	+	Frame_Shift_Ins	INS	-	-	G													ggccaatccaggtacaaactINSggggggagactttaaaacct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:76047106_76047107insG	uc002jud.2	+	4	2563_2564	c.1963_1964insG	c.(1963-1965)TGGfs	p.W655fs	TNRC6C_uc002juf.2_Frame_Shift_Ins_p.W655fs|TNRC6C_uc002jue.2_Frame_Shift_Ins_p.W655fs	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	655	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGTACAAACTGGGGGGAGACT	0.51													G	76047107	-	G	76047106	7	5	265	1	0	1	1	0	0	0	0	0	16339	1580	55	0	1965	0	TNRC6C	17	76047106	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1332278	76047106	5148104	750	132039											
CBX8	57332	broad.mit.edu	37	chr17	77769309	77769309	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggatccggatgcccctggCtgagtcacttcgaaactcgt	13	12	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:77769309C>G	uc002jxd.1	-	5	388	c.295G>C	c.(295-297)GCC>CCC	p.A99P		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	99					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATGCCCCTGGCTGAGTCACTT	0.652													G	77769309	C	G	77769309	3	3	265	1	0	0	0	0	1	0	0	0	2724	797	28	5	853	5	CBX8	17	77769309	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1722203	77769309	3425901	751	132040											
CCDC40	55036	broad.mit.edu	37	chr17	78039288	78039288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgttggctgcaggcctGcaccgagatcgacgccatca	11	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:78039288G>A	uc010dht.2	+	10	1472	c.1445G>A	c.(1444-1446)TGC>TAC	p.C482Y	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.C265Y	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	482					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGCAGGCCTGCACCGAGATC	0.607													A	78039288	G	A	78039288	3	1	265	1	0	0	0	0	1	0	0	0	2812	1319	46	2	1483	2	CCDC40	17	78039288	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	269979	78039288	3155922	752	132041											
CARD14	79092	broad.mit.edu	37	chr17	78182049	78182049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcctggctcctgacGgctggagcgacctggacggc	15	14	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:78182049G>T	uc002jxw.1	+	21	3115	c.2920G>T	c.(2920-2922)GGC>TGC	p.G974C	CARD14_uc002jxt.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	974	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGCTCCTGACGGCTGGAGCGA	0.677													T	78182049	G	T	78182049	3	4	265	1	0	0	0	0	1	0	0	0	2646	1116	39	5	3163	5	CARD14	17	78182049	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	142761	78182049	3013161	753	132042											
AZI1	22994	broad.mit.edu	37	chr17	79173252	79173252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagctcctgagcaggctgcCgcattcctggcactctggtc	11	15	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:79173252C>T	uc002jzp.1	-	10	1321	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.R374Q|AZI1_uc002jzo.1_Missense_Mutation_p.R374Q|AZI1_uc010wum.1_Missense_Mutation_p.R374Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	374					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCAGGCTGCCGCATTCCTGG	0.657													T	79173252	C	T	79173252	3	4	265	1	0	0	0	0	1	0	0	0	1240	652	23	1	2189	1	AZI1	17	79173252	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	991203	79173252	2021958	754	132043											
C17orf70	80233	broad.mit.edu	37	chr17	79511074	79511074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgccctgcaaatgtcggCcagagaggagctttccactt	12	12	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:79511074C>T	uc002kaq.2	-	7	2438	c.2383G>A	c.(2383-2385)GCC>ACC	p.A795T	C17orf70_uc002kao.1_Missense_Mutation_p.A444T|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.A644T	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	795					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CAAATGTCGGCCAGAGAGGAG	0.632													T	79511074	C	T	79511074	3	4	265	1	0	0	0	0	1	0	0	0	1877	739	26	2	274	2	C17orf70	17	79511074	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	337822	79511074	1684136	755	132044											
PYCR1	5831	broad.mit.edu	37	chr17	79893246	79893246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggtgacgccggccgcGcaggacaccacaatgtgtct	13	13	1	2	rs113491328	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:79893246G>A	uc002kcr.1	-	3	563	c.285C>T	c.(283-285)TGC>TGT	p.C95C	PYCR1_uc002kcq.1_Silent_p.C95C|PYCR1_uc002kcp.2_Silent_p.C95C|PYCR1_uc002kcs.1_Silent_p.C95C|PYCR1_uc010wvd.1_Silent_p.C122C|PYCR1_uc002kct.1_Silent_p.C95C|PYCR1_uc002kcu.1_Silent_p.C95C|PYCR1_uc010wve.1_Silent_p.C48C	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	95	NADP.				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CGCCGGCCGCGCAGGACACCA	0.587													A	79893246	G	A	79893246	2	1	265	1	0	0	0	0	0	0	0	1	12855	1079	38	1		1	PYCR1	17	79893246	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	382172	79893246	1301964	756	132045											
FASN	2194	broad.mit.edu	37	chr17	80048771	80048771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctacctggatggcagtcAggctcacaaacgaatggacg	12	12	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:80048771A>G	uc002kdu.2	-	10	1784	c.1667T>C	c.(1666-1668)CTG>CCG	p.L556P	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	556	Acyl and malonyl transferases (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(1)	1	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)	GATGGCAGTCAGGCTCACAAA	0.607													G	80048771	A	G	80048771	3	3	265	1	0	0	0	0	1	0	0	0	5683	188	7	3	6004	3	FASN	17	80048771	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	155525	80048771	1146439	757	132046											
RAB40B	10966	broad.mit.edu	37	chr17	80615786	80615787	+	Frame_Shift_Ins	INS	-	-	G													cagtttttgggggggctctgINSgggggggcggacgagcttca					rs111549422		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:80615785_80615786T>TG	uc002kft.3	-	5	916_917	c.790_791A>CA	c.(790-792)cagfs	p.Q264fs	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	264					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q264P(2)|p.Q264fs*>15(2)|p.P263T(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGGGGGCTCTGGGGGGGGCGG	0.569													G	80615787	-	G	80615786	7	5	265	1	0	1	1	0	0	0	0	0	12941	1357	47	0	50	0	RAB40B	17	80615786	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	567015	80615786	579424	758	132047											
ANKRD12	23253	broad.mit.edu	37	chr18	9280973	9280973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaacaacatgaagctgCggctttaaatgctgtccaga	11	9	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:9280973C>T	uc002knv.2	+	13	6295	c.6038C>T	c.(6037-6039)GCG>GTG	p.A2013V	ANKRD12_uc002knw.2_Missense_Mutation_p.A1990V|ANKRD12_uc002knx.2_Missense_Mutation_p.A1990V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	2013						nucleus				ovary(2)|central_nervous_system(1)	3						CATGAAGCTGCGGCTTTAAAT	0.363													T	9280973	C	T	9280973	3	4	265	1	0	0	0	0	1	0	0	0	640	768	27	1	6084	1	ANKRD12	18	9280973	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		9280973	68796275	759	132048											
PSMG2	56984	broad.mit.edu	37	chr18	12720544	12720544	+	Frame_Shift_Del	DEL	A	A	-													cctacttacaccttccatgcAaaaaagtgttcaaaataaaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:12720544delA	uc002krk.2	+	5	486	c.443delA	c.(442-444)CAAfs	p.Q148fs	PSMG2_uc002krg.2_Frame_Shift_Del_p.Q117fs|PSMG2_uc002krj.1_Frame_Shift_Del_p.Q148fs	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	148					proteasome assembly	nucleus	protein binding				0						CCTTCCATGCAAAAAAGTGTT	0.343													-	12720544	A	-	12720544	7	5	265	1	0	1	0	1	0	0	0	0	12712	130	5	0	461	0	PSMG2	18	12720544	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	3439571	12720544	65356704	760	132049											
DSC3	1825	broad.mit.edu	37	chr18	28586948	28586948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaaataaaatggagctcCatggacaggttcatcaggat	10	7	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:28586948C>T	uc002kwj.3	-	12	1968	c.1813G>A	c.(1813-1815)GGA>AGA	p.G605R	DSC3_uc002kwi.3_Missense_Mutation_p.G605R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	605	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AATGGAGCTCCATGGACAGGT	0.348													T	28586948	C	T	28586948	3	4	265	1	0	0	0	0	1	0	0	0	4767	603	21	4	928	4	DSC3	18	28586948	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	15866404	28586948	49490300	761	132050											
MCART2	147407	broad.mit.edu	37	chr18	29340010	29340010	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaaatgagcactgtgagtCgttgcggtaggcagatgctc	13	9	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:29340010C>T	uc002kxa.2	-	1	834	c.615G>A	c.(613-615)ACG>ACA	p.T205T		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	205					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			CACTGTGAGTCGTTGCGGTAG	0.458													T	29340010	C	T	29340010	2	4	265	1	0	0	0	0	0	0	0	1	9370	871	31	1		1	MCART2	18	29340010	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	753062	29340010	48737238	762	132051											
RNF138	51444	broad.mit.edu	37	chr18	29693753	29693753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attacaaatcttgtaagaagTatcaggatgaatatggtgtt	9	3	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:29693753T>C	uc002kxg.2	+	4	761	c.322T>C	c.(322-324)TAT>CAT	p.Y108H	RNF138_uc002kxh.2_Intron	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	108					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0						TTGTAAGAAGTATCAGGATGA	0.289													C	29693753	T	C	29693753	3	2	265	1	0	0	0	0	1	0	0	0	13441	1638	57	3	332	3	RNF138	18	29693753	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	353743	29693753	48383495	763	132052											
ASXL3	80816	broad.mit.edu	37	chr18	31319791	31319791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatctgtctaatactcCcgaacccatcataatgagtt	6	10	3	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:31319791C>T	uc010dmg.1	+	11	2478	c.2423C>T	c.(2422-2424)CCC>CTC	p.P808L	ASXL3_uc002kxq.2_Missense_Mutation_p.P515L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TCTAATACTCCCGAACCCATC	0.473													T	31319791	C	T	31319791	3	4	265	1	0	0	0	0	1	0	0	0	1068	623	22	4	2465	4	ASXL3	18	31319791	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1626038	31319791	46757457	764	132053											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677													-	34205516	C	-	34205516	7	5	265	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	2885725	34205516	43871732	765	132054											
PSTPIP2	9050	broad.mit.edu	37	chr18	43595906	43595906	+	Splice_Site	DEL	A	A	-													agggcccgcttcagggtgctAaaaaaaacaagcacatatat							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383													-	43595906	A	-	43595906	8	5	265	1	0	1	0	1	0	0	1	0	12722	377	13	0		0	PSTPIP2	18	43595906	Splice_Site	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	9390390	43595906	34481342	766	132055											
TCEB3B	51224	broad.mit.edu	37	chr18	44560469	44560469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcttccgcaactgatcGtaggtgaggtatttttcaca	9	8	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:44560469G>A	uc002lcr.1	-	1	1520	c.1167C>T	c.(1165-1167)TAC>TAT	p.Y389Y	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	389					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCAACTGATCGTAGGTGAGGT	0.488													A	44560469	G	A	44560469	2	1	265	1	0	0	0	0	0	0	0	1	15679	1140	40	1		1	TCEB3B	18	44560469	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	964563	44560469	33516779	767	132056											
MYO5B	4645	broad.mit.edu	37	chr18	47383217	47383217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccttggtaggccaagcCgagttctccatcttcattta	9	11	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:47383217C>T	uc002leb.2	-	30	4276	c.3988G>A	c.(3988-3990)GGC>AGC	p.G1330S	MYO5B_uc002lea.2_Intron	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1330					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		TAGGCCAAGCCGAGTTCTCCA	0.478													T	47383217	C	T	47383217	3	4	265	1	0	0	0	0	1	0	0	0	10079	652	23	1	1602	1	MYO5B	18	47383217	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2822748	47383217	30694031	768	132057											
ALPK2	115701	broad.mit.edu	37	chr18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-													cttcgtcatcgctttctaatAaaaaaacatgctcagtcccc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:56246941delA	uc002lhj.3	-	4	1281	c.1067delT	c.(1066-1068)TTAfs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	356							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56246941	A	-	56246941	7	5	265	1	0	1	0	1	0	0	0	0	545	372	13	0	5485	0	ALPK2	18	56246941	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	8863724	56246941	21830307	769	132058											
CDH7	1005	broad.mit.edu	37	chr18	63530035	63530035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccctcaccatccgcgtGtgtgactgtgatgctgacgg	11	13	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:63530035G>A	uc002ljz.2	+	11	2071	c.1746G>A	c.(1744-1746)GTG>GTA	p.V582V	CDH7_uc002lka.2_Silent_p.V582V|CDH7_uc002lkb.2_Silent_p.V582V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	582	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CCATCCGCGTGTGTGACTGTG	0.542													A	63530035	G	A	63530035	2	1	265	1	0	0	0	0	0	0	0	1	3115	1364	48	4		4	CDH7	18	63530035	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7283094	63530035	14547213	770	132059											
ZNF407	55628	broad.mit.edu	37	chr18	72343856	72343856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttttcctaaaaaatcacGtacaatggcaacaaaaaatg	4	9	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:72343856G>A	uc002llw.2	+	1	938	c.881G>A	c.(880-882)CGT>CAT	p.R294H	ZNF407_uc010xfc.1_Missense_Mutation_p.R294H|ZNF407_uc010dqu.1_Missense_Mutation_p.R294H|ZNF407_uc002llu.2_Missense_Mutation_p.R293H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAATCACGTACAATGGCA	0.373													A	72343856	G	A	72343856	3	1	265	1	0	0	0	0	1	0	0	0	17884	1145	40	1	883	1	ZNF407	18	72343856	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	8813821	72343856	5733392	771	132060											
NFATC1	4772	broad.mit.edu	37	chr18	77208862	77208862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgcctgctgcgcccgcaCgccttctaccaggtgcaccg	11	19	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:77208862C>T	uc010xfg.1	+	4	1920	c.1467C>T	c.(1465-1467)CAC>CAT	p.H489H	NFATC1_uc002lnc.1_Silent_p.H489H|NFATC1_uc010xff.1_Silent_p.H489H|NFATC1_uc002lnd.2_Silent_p.H489H|NFATC1_uc002lne.2_Silent_p.H17H|NFATC1_uc010xfh.1_Silent_p.H489H|NFATC1_uc010xfi.1_Silent_p.H476H|NFATC1_uc010xfj.1_Silent_p.H17H|NFATC1_uc002lnf.2_Silent_p.H476H|NFATC1_uc002lng.2_Silent_p.H476H|NFATC1_uc010xfk.1_Silent_p.H476H	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	489	RHD.				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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGCGCCCGCACGCCTTCTACC	0.607													T	77208862	C	T	77208862	2	4	265	1	0	0	0	0	0	0	0	1	10361	535	19	1		1	NFATC1	18	77208862	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4865006	77208862	868386	772	132061											
CTDP1	9150	broad.mit.edu	37	chr18	77477850	77477850	+	Frame_Shift_Del	DEL	C	C	-													ttcccgaccgggagggtgtgCcccccaccgccttgttccac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:77477849_77477849GC>G	uc002lnh.2	+	9	2397	c.2250_2250GC>G	c.(2248-2250)gtgfs	p.V750fs	CTDP1_uc002lni.2_Frame_Shift_Del_p.V750fs|CTDP1_uc010drd.2_Frame_Shift_Del_p.V750fs|CTDP1_uc021ult.1_Frame_Shift_Del_p.V631fs	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	750					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GGGAGGGTGTGCCCCCCACCG	0.672													-	77477850	C	-	77477850	7	5	265	1	0	1	0	1	0	0	0	0	4002	739	26	0	2289	0	CTDP1	18	77477850	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	268988	77477850	599398	773	132062											
ELANE	1991	broad.mit.edu	37	chr19	853026	853026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggccgcgcactgcgtggCgaatgtgtgagtagccggga	18	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:853026C>T	uc002lqb.2	+	2	256	c.218C>T	c.(217-219)GCG>GTG	p.A73V		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	73	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CACTGCGTGGCGAATGTGTGA	0.731									Kostmann_syndrome				T	853026	C	T	853026	3	4	265	1	0	0	0	0	1	0	0	0	5048	768	27	1	224	1	ELANE	19	853026	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		853026	58275957	774	132063											
ARID3A	1820	broad.mit.edu	37	chr19	971946	971946	+	Missense_Mutation	SNP	G	G	A													acaaaggaggcggcggcggcGgcggcagcagcagcaacgca							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:971946G>A	uc002lql.2	+	9	1953	c.1663G>A	c.(1663-1665)GGC>AGC	p.G555S		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	555	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		cggcggcggcggcggcagcag	0.547													A	971946	G	A	971946	3	1	265	1	0	0	0	0	1	0	0	0	916	1116	39	1	1693	1	ARID3A	19	971946	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	118920	971946	58157037	775	132064	683	2									
ARID3A	1820	broad.mit.edu	37	chr19	971952	971952	+	Missense_Mutation	SNP	A	A	G													gaggcggcggcggcggcggcAgcagcagcaacgcaggcggc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:971952A>G	uc002lql.2	+	9	1959	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	557	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		cggcggcggcagcagcagcAA	0.532													G	971952	A	G	971952	3	3	265	1	0	0	0	0	1	0	0	0	916	188	7	3	1699	3	ARID3A	19	971952	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	6	971952	58157031	776	132065	683	2									
MEX3D	399664	broad.mit.edu	37	chr19	1556717	1556717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtccgggaaggttgggCgggccctgggcggcgccggg	22	11	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:1556717C>T	uc010dsn.2	-	2	801	c.801G>A	c.(799-801)CCG>CCA	p.P267P		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	267					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			lung(1)	1		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)		GAAGGTTGGGCGGGCCCTGGG	0.711													T	1556717	C	T	1556717	2	4	265	1	0	0	0	0	0	0	0	1	9512	755	27	1		1	MEX3D	19	1556717	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	584765	1556717	57572266	777	132066											
MBD3	53615	broad.mit.edu	37	chr19	1581217	1581217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggtgctagtgtgcaggGcgctggcgatggccgacagc	18	10	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:1581217G>A	uc002ltl.1	-	5	573	c.551C>T	c.(550-552)GCC>GTC	p.A184V	MBD3_uc002ltj.2_Missense_Mutation_p.A184V|MBD3_uc002ltk.2_Missense_Mutation_p.A152V	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	184					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)		AGTGTGCAGGGCGCTGGCGAT	0.667													A	1581217	G	A	1581217	3	1	265	1	0	0	0	0	1	0	0	0	9344	1203	42	2	332	2	MBD3	19	1581217	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	24500	1581217	57547766	778	132067											
SLC39A3	29985	broad.mit.edu	37	chr19	2733205	2733205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcacggggctggcgcgCgagaggccctgcacgctcag	18	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:2733205C>T	uc002lwg.2	-	3	743	c.489G>A	c.(487-489)TCG>TCA	p.S163S	SLC39A3_uc010xgy.1_Silent_p.S163S	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	163	Cytoplasmic (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		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)		GGCTGGCGCGCGAGAGGCCCT	0.731													T	2733205	C	T	2733205	2	4	265	1	0	0	0	0	0	0	0	1	14619	755	27	1		1	SLC39A3	19	2733205	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1151988	2733205	56395778	779	132068											
S1PR4	8698	broad.mit.edu	37	chr19	3179829	3179829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtcgaggctcactccGgagcttccaccaccgacagc	12	17	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3179829G>A	uc002lxg.2	+	1	1064	c.1039G>A	c.(1039-1041)GGA>AGA	p.G347R		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	347	Cytoplasmic (By similarity).				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			lung(1)|skin(1)	2						GGCTCACTCCGGAGCTTCCAC	0.692													A	3179829	G	A	3179829	3	1	265	1	0	0	0	0	1	0	0	0	13796	1117	39	1	1041	1	S1PR4	19	3179829	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	446624	3179829	55949154	780	132069											
NCLN	56926	broad.mit.edu	37	chr19	3204745	3204745	+	Frame_Shift_Del	DEL	G	G	-													agcgcagcagcatcatggacGtgcggtgagcgcggcagcac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3204745delG	uc002lxi.2	+	9	1358	c.1204delG	c.(1204-1206)GTGfs	p.V402fs	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Frame_Shift_Del_p.V47fs	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	402	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		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)		CATCATGGACGTGCGGTGAGC	0.701													-	3204745	G	-	3204745	7	5	265	1	0	1	0	1	0	0	0	0	10227	1145	40	0	1238	0	NCLN	19	3204745	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	24916	3204745	55924238	781	132070											
FZR1	51343	broad.mit.edu	37	chr19	3532525	3532525	+	Frame_Shift_Del	DEL	G	G	-													cagcacgggctgctggcctcGgggggcggcacagctgaccg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3532524_3532524CG>C	uc010dtk.2	+	9	1152	c.1118_1118CG>C	c.(1117-1119)tcgfs	p.S373fs	FZR1_uc002lxt.2_Frame_Shift_Del_p.S373fs|FZR1_uc002lxv.2_Frame_Shift_Del_p.S284fs	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	373					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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	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)		CTGCTGGCCTCGGGGGGCGGC	0.647													-	3532525	G	-	3532525	7	5	265	1	0	1	0	1	0	0	0	0	6138	1103	39	0	1157	0	FZR1	19	3532525	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	327780	3532525	55596458	782	132071											
PIP5K1C	23396	broad.mit.edu	37	chr19	3633441	3633441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgcacttactgtgtcGctctcgccgtcggaggccgg	15	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3633441G>A	uc002lyj.1	-	17	2055	c.1998C>T	c.(1996-1998)AGC>AGT	p.S666S	PIP5K1C_uc010xhq.1_Intron	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	666	Mediates interaction with TLN2.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		TTACTGTGTCGCTCTCGCCGT	0.692													A	3633441	G	A	3633441	2	1	265	1	0	0	0	0	0	0	0	1	11941	1078	38	1		1	PIP5K1C	19	3633441	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	100916	3633441	55495542	783	132072											
MPND	84954	broad.mit.edu	37	chr19	4355005	4355005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggggggccgctgggaCgtcaacagccagagtgggta	17	10	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:4355005C>T	uc002mae.2	+	7	973	c.906C>T	c.(904-906)GAC>GAT	p.D302D	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Intron|MPND_uc002maf.2_Silent_p.D302D|MPND_uc002mah.2_Silent_p.D190D|MPND_uc002mai.2_Silent_p.D190D	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	302	MPN.						peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCTGGGACGTCAACAGCC	0.662													T	4355005	C	T	4355005	2	4	265	1	0	0	0	0	0	0	0	1	9731	535	19	1		1	MPND	19	4355005	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	721564	4355005	54773978	784	132073											
RFX2	5990	broad.mit.edu	37	chr19	6040096	6040096	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacgatggggctccccccGacatccatggtgatgcccac	12	15	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:6040096G>A	uc002meb.2	-	5	686	c.417C>T	c.(415-417)GTC>GTT	p.V139V	RFX2_uc002mec.2_Silent_p.V139V|RFX2_uc010xiy.1_Silent_p.V94V	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GGCTCCCCCCGACATCCATGG	0.687													A	6040096	G	A	6040096	2	1	265	1	0	0	0	0	0	0	0	1	13263	1045	37	1		1	RFX2	19	6040096	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1685091	6040096	53088887	785	132074											
FBN3	84467	broad.mit.edu	37	chr19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-													ccatccgtgcctaccgccagCccccccaggcactggcagcg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8196624_8196624GC>G	uc002mjf.3	-	13	1821	c.1804_1804GC>C	c.(1804-1806)ctgfs	p.L602fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	602	EGF-like 7; 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						CCTACCGCCAGCCCCCCCAGG	0.677													-	8196625	C	-	8196625	7	5	265	1	0	1	0	1	0	0	0	0	5704	726	26	0	6826	0	FBN3	19	8196625	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	2156529	8196625	50932358	786	132075											
FBN3	84467	broad.mit.edu	37	chr19	8201136	8201136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccggcagtggtaggtgCcggggatgttgacgcagtca	17	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8201136C>T	uc002mjf.2	-	11	1424	c.1403G>A	c.(1402-1404)GGC>GAC	p.G468D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	468	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GTGGTAGGTGCCGGGGATGTT	0.642													T	8201136	C	T	8201136	3	4	265	1	0	0	0	0	1	0	0	0	5704	739	26	2	7238	2	FBN3	19	8201136	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4511	8201136	50927847	787	132076											
PRAM1	84106	broad.mit.edu	37	chr19	8563446	8563446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctgacctccagcgggGtgtcccagccgctccaaacc	10	19	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8563446G>A	uc002mkd.2	-	2	1266	c.1246C>T	c.(1246-1248)CCC>TCC	p.P416S	PRAM1_uc002mkc.2_Missense_Mutation_p.P416S	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	464	Pro-rich.						lipid binding|protein binding				0						CTCCAGCGGGGTGTCCCAGCC	0.721													A	8563446	G	A	8563446	3	1	265	1	0	0	0	0	1	0	0	0	12423	1261	44	4	799	4	PRAM1	19	8563446	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	362310	8563446	50565537	788	132077											
MYO1F	4542	broad.mit.edu	37	chr19	8601234	8601234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgctggacgccctggcgttCgtccccacgccaccgcggcc	13	19	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8601234C>T	uc002mkg.2	-	19	2059	c.1945G>A	c.(1945-1947)GAA>AAA	p.E649K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	649	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CCCTGGCGTTCGTCCCCACGC	0.652													T	8601234	C	T	8601234	3	4	265	1	0	0	0	0	1	0	0	0	10073	893	31	1	1391	1	MYO1F	19	8601234	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	37788	8601234	50527749	789	132078											
MUC16	94025	broad.mit.edu	37	chr19	9061788	9061788	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctggcttcttccacagagGgaaggctcggccatggcaca	13	12	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:9061788G>T	uc002mkp.2	-	3	25862	c.25658C>A	c.(25657-25659)CCC>CAC	p.P8553H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8555	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCCACAGAGGGAAGGCTCGG	0.507													T	9061788	G	T	9061788	3	4	265	1	0	0	0	0	1	0	0	0	9973	1232	43	5	18193	5	MUC16	19	9061788	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	460554	9061788	50067195	790	132079											
ZNF317	57693	broad.mit.edu	37	chr19	9267982	9267982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcgctgtggactttacCgagaaggagtggcccttgct	14	9	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:9267982C>T	uc002mku.2	+	4	476	c.201C>T	c.(199-201)ACC>ACT	p.T67T	ZNF317_uc010xkm.1_Nonsense_Mutation_p.R109*|ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Silent_p.T67T|ZNF317_uc002mkx.2_5'UTR|ZNF317_uc002mky.2_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGACTTTACCGAGAAGGAGT	0.493													T	9267982	C	T	9267982	2	4	265	1	0	0	0	0	0	0	0	1	17832	639	23	1		1	ZNF317	19	9267982	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	206194	9267982	49861001	791	132080											
S1PR5	53637	broad.mit.edu	37	chr19	10624718	10624718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccgcaggagtggcgtcCgcagcagaccaggcgcagga	16	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:10624718C>T	uc002mot.1	-	2	1027	c.970G>A	c.(970-972)GGA>AGA	p.G324R	S1PR5_uc002mou.1_Missense_Mutation_p.G324R	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	324	Cytoplasmic (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						GAGTGGCGTCCGCAGCAGACC	0.701													T	10624718	C	T	10624718	3	4	265	1	0	0	0	0	1	0	0	0	13797	661	23	1	230	1	S1PR5	19	10624718	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1356736	10624718	48504265	792	132081											
YIPF2	78992	broad.mit.edu	37	chr19	11034678	11034678	+	Splice_Site	DEL	G	G	-													tgatgcctgccacggtcactGgggggggcaaggtgagcagt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:11034677_11034677TG>T	uc002mqc.3	-	7	612	c.485_splice	c.e7-1	p.V162_splice	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Splice_Site_p.V162_splice	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	162						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCACGGTCACTGGGGGGGGCA	0.672													-	11034678	G	-	11034678	8	5	265	1	0	1	0	1	0	0	1	0	17475	1363	47	0		0	YIPF2	19	11034678	Splice_Site	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	409960	11034678	48094305	793	132082											
PRKCSH	5589	broad.mit.edu	37	chr19	11558289	11558289	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcaccttctgccccTgacttgacggagcccaagga	9	16	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:11558289T>C	uc002mrt.2	+	11	1221	c.885T>C	c.(883-885)CCT>CCC	p.P295P	PRKCSH_uc002mru.2_Silent_p.P295P|PRKCSH_uc010xlz.1_Silent_p.P295P|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Silent_p.P295P|PRKCSH_uc010dyb.2_Silent_p.P295P	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	295					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CTTCTGCCCCTGACTTGACGG	0.507													C	11558289	T	C	11558289	2	2	265	1	0	0	0	0	0	0	0	1	12516	1567	55	3		3	PRKCSH	19	11558289	Silent	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	523611	11558289	47570694	794	132083											
ZNF709	163051	broad.mit.edu	37	chr19	12576151	12576151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacattccttacattcataAggtttctctccagtatgagt	5	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:12576151A>G	uc002mtv.3	-	4	746	c.585T>C	c.(583-585)CCT>CCC	p.P195P	ZNF709_uc002mtw.3_Silent_p.P163P|ZNF709_uc002mtx.3_Silent_p.P195P	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACATTCATAAGGTTTCTCTC	0.403													G	12576151	A	G	12576151	2	3	265	1	0	0	0	0	0	0	0	1	18110	59	3	3		3	ZNF709	19	12576151	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	1017862	12576151	46552832	795	132084											
RNASEH2A	10535	broad.mit.edu	37	chr19	12918303	12918303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtatgcattggaccagGgcgtgaacgtcacccaggtg	13	10	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:12918303G>A	uc002mvg.1	+	4	454	c.394G>A	c.(394-396)GGC>AGC	p.G132S	RNASEH2A_uc002mvf.1_Missense_Mutation_p.G50S	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	132					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						ATTGGACCAGGGCGTGAACGT	0.418													A	12918303	G	A	12918303	3	1	265	1	0	0	0	0	1	0	0	0	13412	1232	43	4	408	4	RNASEH2A	19	12918303	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	342152	12918303	46210680	796	132085											
LPHN1	22859	broad.mit.edu	37	chr19	14281586	14281586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccggcgaccaccacgcacTgggtgcggttgttacacctt	12	14	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:14281586T>C	uc010xnn.1	-	4	598	c.302A>G	c.(301-303)CAG>CGG	p.Q101R	LPHN1_uc010xno.1_Missense_Mutation_p.Q101R|uc002myf.2_RNA|uc010dzk.1_5'Flank	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	101	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CACCACGCACTGGGTGCGGTT	0.597													C	14281586	T	C	14281586	3	2	265	1	0	0	0	0	1	0	0	0	8915	1580	55	3	4206	3	LPHN1	19	14281586	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1363283	14281586	44847397	797	132086											
EPS15L1	58513	broad.mit.edu	37	chr19	16536014	16536014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggctggcaggcaggacGgggacggcgccagggaacac	22	10	0	0	rs141071663		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:16536014G>A	uc002ndz.1	-	9	678	c.672C>T	c.(670-672)CCC>CCT	p.P224P	EPS15L1_uc002ndx.2_Silent_p.P224P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.P114P|EPS15L1_uc010xpf.1_Silent_p.P127P|EPS15L1_uc002nea.1_Silent_p.P224P|EPS15L1_uc010eah.1_Silent_p.P224P|EPS15L1_uc002neb.1_Silent_p.P70P|EPS15L1_uc002nec.1_Silent_p.P224P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	224					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CAGGCAGGACGGGGACGGCGC	0.682													A	16536014	G	A	16536014	2	1	265	1	0	0	0	0	0	0	0	1	5193	1103	39	1		1	EPS15L1	19	16536014	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2254428	16536014	42592969	798	132087											
MAST3	23031	broad.mit.edu	37	chr19	18245776	18245776	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatacccccgaggaactcttCggtcaggtggtcagcggtgc	14	12	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:18245776C>T	uc002nhz.3	+	16	1767	c.1767C>T	c.(1765-1767)TTC>TTT	p.F589F		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	589	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						AGGAACTCTTCGGTCAGGTGG	0.627													T	18245776	C	T	18245776	2	4	265	1	0	0	0	0	0	0	0	1	9326	883	31	1		1	MAST3	19	18245776	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1709762	18245776	40883207	799	132088											
ELL	8178	broad.mit.edu	37	chr19	18557573	18557573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagcaagtagtcaggcGtctccgacgtggacgtggga	14	11	3	0	rs142055049	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:18557573G>A	uc002njh.2	-	9	1589	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	ELL_uc010ebq.2_Missense_Mutation_p.T449M|ELL_uc002njg.2_Missense_Mutation_p.T373M	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	506					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		GTAGTCAGGCGTCTCCGACGT	0.587			T	MLL	AL								A	18557573	G	A	18557573	3	1	265	1	0	0	0	0	1	0	0	0	5062	1145	40	1	364	1	ELL	19	18557573	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	311797	18557573	40571410	800	132089											
ATP13A1	57130	broad.mit.edu	37	chr19	19758333	19758333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagcacctggctcaggCggtcctgcagggtagacagc	14	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:19758333C>T	uc002nnh.3	-	21	2826	c.2798G>A	c.(2797-2799)CGC>CAC	p.R933H	ATP13A1_uc002nne.2_Missense_Mutation_p.R73H|ATP13A1_uc002nnf.3_Missense_Mutation_p.R301H|ATP13A1_uc002nng.2_Missense_Mutation_p.R815H	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	933	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CTGGCTCAGGCGGTCCTGCAG	0.642													T	19758333	C	T	19758333	3	4	265	1	0	0	0	0	1	0	0	0	1123	768	27	1	840	1	ATP13A1	19	19758333	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1200760	19758333	39370650	801	132090											
ATP13A1	57130	broad.mit.edu	37	chr19	19766196	19766196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagctcaggaggcacgAccgaggtgaggatcagggtg	19	8	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:19766196A>G	uc002nnh.3	-	11	1491	c.1463T>C	c.(1462-1464)GTC>GCC	p.V488A	ATP13A1_uc002nnf.3_5'UTR|ATP13A1_uc002nng.2_Missense_Mutation_p.V370A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	488	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						AGGAGGCACGACCGAGGTGAG	0.632													G	19766196	A	G	19766196	3	3	265	1	0	0	0	0	1	0	0	0	1123	275	10	3	2215	3	ATP13A1	19	19766196	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	7863	19766196	39362787	802	132091											
ZNF626	199777	broad.mit.edu	37	chr19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-													tcatccacacttatacatccTttttttaactgtaaattgtc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:20808338delT	uc002npb.1	-	4	495	c.345delA	c.(343-345)AAAfs	p.K115fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.K39fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTATACATCCTTTTTTTAACT	0.353													-	20808338	T	-	20808338	7	5	265	1	0	1	0	1	0	0	0	0	18047	1606	56	0	1245	0	ZNF626	19	20808338	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	1042142	20808338	38320645	803	132092											
ZNF429	353088	broad.mit.edu	37	chr19	21720332	21720332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaaagcctttaagcagTcctcaaaccttaacagtcat	7	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:21720332T>C	uc002nqd.1	+	4	1614	c.1477T>C	c.(1477-1479)TCC>CCC	p.S493P	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	493	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTTTAAGCAGTCCTCAAACCT	0.398													C	21720332	T	C	21720332	3	2	265	1	0	0	0	0	1	0	0	0	17899	1667	58	3	1491	3	ZNF429	19	21720332	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	911994	21720332	37408651	804	132093											
ZNF91	7644	broad.mit.edu	37	chr19	23557561	23557561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacatccctaaatgtcaaCagtccctgaaaaacacacac	4	15	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:23557561C>T	uc002nre.2	-	2	149	c.36G>A	c.(34-36)CTG>CTA	p.L12L	ZNF91_uc010xrj.1_Silent_p.L12L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	12						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAAATGTCAACAGTCCCTGAA	0.403													T	23557561	C	T	23557561	2	4	265	1	0	0	0	0	0	0	0	1	18197	465	17	4		4	ZNF91	19	23557561	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1837229	23557561	35571422	805	132094											
ZNF675	171392	broad.mit.edu	37	chr19	23836865	23836865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaactggttaaaggctttGccacattcttcacatttgta	8	8	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:23836865G>A	uc002nri.2	-	4	1052	c.870C>T	c.(868-870)GGC>GGT	p.G290G		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	290	C2H2-type 6.				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			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAAGGCTTTGCCACATTCTT	0.378													A	23836865	G	A	23836865	2	1	265	1	0	0	0	0	0	0	0	1	18079	1306	46	2		2	ZNF675	19	23836865	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	279304	23836865	35292118	806	132095											
TSHZ3	57616	broad.mit.edu	37	chr19	31769253	31769253	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctttttgcttaggtttctcGtcagtgaccgctttctcctt	7	11	4	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:31769253G>C	uc002nsy.3	-	2	1511	c.1446C>G	c.(1444-1446)GAC>GAG	p.D482E		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	482					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TAGGTTTCTCGTCAGTGACCG	0.478													C	31769253	G	C	31769253	3	2	265	1	0	0	0	0	1	0	0	0	16622	1136	40	5	1803	5	TSHZ3	19	31769253	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	7932388	31769253	27359730	807	132096											
ATP4A	495	broad.mit.edu	37	chr19	36046611	36046611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctacgggcacacggaggCgggcagcgatgtcctccact	15	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:36046611C>T	uc002oal.1	-	13	2002	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	658	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	CACACGGAGGCGGGCAGCGAT	0.632													T	36046611	C	T	36046611	3	4	265	1	0	0	0	0	1	0	0	0	1145	768	27	1	1174	1	ATP4A	19	36046611	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	4277358	36046611	23082372	808	132097											
ZNF568	374900	broad.mit.edu	37	chr19	37441358	37441358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagttcatccctaaccGtacatatgcgaaatcataca	5	12	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:37441358G>A	uc002ofc.2	+	7	1818	c.1303G>A	c.(1303-1305)GTA>ATA	p.V435I	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.V359I|ZNF568_uc010efe.2_Missense_Mutation_p.V359I|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	435	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCCCTAACCGTACATATGCG	0.383													A	37441358	G	A	37441358	3	1	265	1	0	0	0	0	1	0	0	0	17996	1145	40	1	1321	1	ZNF568	19	37441358	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1394747	37441358	21687625	809	132098											
ZNF793	390927	broad.mit.edu	37	chr19	38027860	38027860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatgcttttgaggccaggCgcagccataagcaagaaaac	11	10	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:38027860C>T	uc010efm.2	+	8	742	c.300C>T	c.(298-300)GGC>GGT	p.G100G	ZNF793_uc010xts.1_Silent_p.G100G|ZNF793_uc010efo.2_Silent_p.G100G	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGCCAGGCGCAGCCATAA	0.403													T	38027860	C	T	38027860	2	4	265	1	0	0	0	0	0	0	0	1	18162	755	27	1		1	ZNF793	19	38027860	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	586502	38027860	21101123	810	132099											
RYR1	6261	broad.mit.edu	37	chr19	39068674	39068675	+	Frame_Shift_Ins	INS	-	-	G													gcaagcccaacccgccgccaINSgggctgctgacctggtgagc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:39068674_39068675insG	uc002oit.2	+	98	14419_14420	c.14289_14290insG	c.(14287-14292)CCAGGGfs	p.P4763fs	RYR1_uc002oiu.2_Frame_Shift_Ins_p.P4758fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4763_4764					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCCGCCGCCAGGGCTGCTGAC	0.653													G	39068675	-	G	39068674	7	5	265	1	0	1	1	0	0	0	0	0	13768	175	7	0	14679	0	RYR1	19	39068674	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1040814	39068674	20060309	811	132100	684	2									
RYR1	6261	broad.mit.edu	37	chr19	39068675	39068676	+	Frame_Shift_Ins	INS	-	-	G													caagcccaacccgccgccagINSggctgctgacctggtgagcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:39068674_39068675A>AG	uc002oit.3	+	97	14419_14420	c.14289_14290A>AG	c.(14287-14292)ccagggfs	p.P4763fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.P4758fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4763					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	ACCCGCCGCCAGGGCTGCTGAC	0.653													G	39068676	-	G	39068675	7	5	265	1	0	1	1	0	0	0	0	0	13768	1000	35	0	14680	0	RYR1	19	39068675	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	39068675	20060308	812	132101	684	2									
DLL3	10683	broad.mit.edu	37	chr19	39995901	39995901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgaatgcacctgcccGcgtgggttctacgggctgcg	13	13	1	1	rs148016836	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:39995901G>A	uc002olx.2	+	6	961	c.903G>A	c.(901-903)CCG>CCA	p.P301P	DLL3_uc010egq.2_Silent_p.P301P|DLL3_uc002olw.2_Silent_p.P301P	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	301	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			GCACCTGCCCGCGTGGGTTCT	0.597													A	39995901	G	A	39995901	2	1	265	1	0	0	0	0	0	0	0	1	4567	1074	38	1		1	DLL3	19	39995901	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	927226	39995901	19133082	813	132102											
FCGBP	8857	broad.mit.edu	37	chr19	40398365	40398365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagagcccgcgtacgccGccggcacgcgcaggcgcacg	16	16	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:40398365G>A	uc002omp.3	-	14	6610	c.6602C>T	c.(6601-6603)GCG>GTG	p.A2201V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2201	VWFD 5.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			CGCGTACGCCGCCGGCACGCG	0.692													A	40398365	G	A	40398365	3	1	265	1	0	0	0	0	1	0	0	0	5778	1087	38	1	9707	1	FCGBP	19	40398365	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	402464	40398365	18730618	814	132103											
LTBP4	8425	broad.mit.edu	37	chr19	41105349	41105349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcagggtccgaagctgCcagcccaaaaagtgtgcagg	13	11	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41105349C>T	uc002ooh.1	+	3	228	c.228C>T	c.(226-228)TGC>TGT	p.C76C	LTBP4_uc002oog.1_Silent_p.C39C|LTBP4_uc002ooi.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	76					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)			TCCGAAGCTGCCAGCCCAAAA	0.607													T	41105349	C	T	41105349	2	4	265	1	0	0	0	0	0	0	0	1	9076	747	26	2		2	LTBP4	19	41105349	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	706984	41105349	18023634	815	132104											
LTBP4	8425	broad.mit.edu	37	chr19	41117787	41117787	+	Frame_Shift_Del	DEL	C	C	-													gtggatgagtgtgcccgaagCcccccaccctgcacctacgg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41117787delC	uc002ooh.1	+	17	2277	c.2277delC	c.(2275-2277)AGCfs	p.S759fs	LTBP4_uc002oog.1_Frame_Shift_Del_p.S722fs|LTBP4_uc002ooi.1_Frame_Shift_Del_p.S692fs|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Frame_Shift_Del_p.A50fs|LTBP4_uc010ehb.1_5'UTR|LTBP4_uc002ook.1_5'UTR|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	759	Cys-rich.|EGF-like 8; 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)			GTGCCCGAAGCCCCCCACCCT	0.622													-	41117787	C	-	41117787	7	5	265	1	0	1	0	1	0	0	0	0	9076	738	26	0	2636	0	LTBP4	19	41117787	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	12438	41117787	18011196	816	132105											
CYP2A6	1548	broad.mit.edu	37	chr19	41351354	41351354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggctgccggttcttgcCgatcactctgtcaatctcct	9	14	5	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41351354C>T	uc002opl.3	-	7	1027	c.1006G>A	c.(1006-1008)GGC>AGC	p.G336S	CYP2A6_uc010ehe.1_Missense_Mutation_p.G132S	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	336					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGGTTCTTGCCGATCACTCTG	0.537													T	41351354	C	T	41351354	3	4	265	1	0	0	0	0	1	0	0	0	4162	652	23	1	490	1	CYP2A6	19	41351354	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	233567	41351354	17777629	817	132106											
CCDC97	90324	broad.mit.edu	37	chr19	41822685	41822685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcactgcccggccccGcaccctgcgtacccgcctgc	12	21	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41822685G>A	uc002oqg.2	+	2	565	c.443G>A	c.(442-444)CGC>CAC	p.R148H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	148											0						GCCCGGCCCCGCACCCTGCGT	0.677													A	41822685	G	A	41822685	3	1	265	1	0	0	0	0	1	0	0	0	2875	1087	38	1	449	1	CCDC97	19	41822685	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	471331	41822685	17306298	818	132107											
PRR19	284338	broad.mit.edu	37	chr19	42813866	42813866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggccattagcccaccacGatcctcctgtggccattcgg	10	17	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:42813866G>A	uc002oti.2	+	2	508	c.130G>A	c.(130-132)GAT>AAT	p.D44N	PRR19_uc002oth.1_Missense_Mutation_p.D44N|PRR19_uc002otj.2_Missense_Mutation_p.D44N	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	44											0		Prostate(69;0.00682)				AGCCCACCACGATCCTCCTGT	0.632													A	42813866	G	A	42813866	3	1	265	1	0	0	0	0	1	0	0	0	12591	1058	37	1	132	1	PRR19	19	42813866	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	991181	42813866	16315117	819	132108											
MEGF8	1954	broad.mit.edu	37	chr19	42856601	42856601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggcatctcacactgcAaccgcacgtgagtgaggcgg	14	11	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:42856601A>G	uc002otl.3	+	18	3777	c.3142A>G	c.(3142-3144)AAC>GAC	p.N1048D	MEGF8_uc002otm.3_Missense_Mutation_p.N656D	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1115	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CTCACACTGCAACCGCACGTG	0.672													G	42856601	A	G	42856601	3	3	265	1	0	0	0	0	1	0	0	0	9463	130	5	3	3212	3	MEGF8	19	42856601	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	42735	42856601	16272382	820	132109											
ZNF221	7638	broad.mit.edu	37	chr19	44470960	44470960	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggattttatacaaattcaCgacgatcttcccatcagaga	7	9	3	1	rs148293806		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:44470960C>T	uc002oxx.2	+	6	1634	c.1306C>T	c.(1306-1308)CGA>TGA	p.R436*	ZNF221_uc010ejb.1_Nonsense_Mutation_p.R436*|ZNF221_uc010xws.1_Nonsense_Mutation_p.R436*	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	436	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				TACAAATTCACGACGATCTTC	0.418													T	44470960	C	T	44470960	4	4	265	1	0	0	0	0	0	1	0	0	17772	528	19	1	1320	1	ZNF221	19	44470960	Nonsense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1614359	44470960	14658023	821	132110											
PVR	5817	broad.mit.edu	37	chr19	45153247	45153248	+	Frame_Shift_Del	DEL	CA	CA	-													gtgccagggttcctgtctggCacagtcactgtcaccagcct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45153247_45153248delCA	uc002ozm.2	+	3	893_894	c.594_595delCA	c.(592-597)GGCACAfs	p.G198fs	PVR_uc010ejs.2_Frame_Shift_Del_p.G198fs|PVR_uc010xxb.1_Frame_Shift_Del_p.G198fs|PVR_uc010xxc.1_Frame_Shift_Del_p.G198fs|PVR_uc002ozn.2_Frame_Shift_Del_p.G143fs	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	198_199	Extracellular (Potential).|Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCCTGTCTGGCACAGTCACTGT	0.614													-	45153248	CA	-	45153247	7	5	265	1	0	1	0	1	0	0	0	0	12837	697	25	0	604	0	PVR	19	45153247	Frame_Shift_Del	DEL	CA	TCGA-HU-A4G9-01A-11D-A24D-08	682287	45153247	13975736	822	132111											
BCAM	4059	broad.mit.edu	37	chr19	45317965	45317965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagagtggaggattaCgacgcggcagatgacgtgca	17	8	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45317965C>T	uc002ozu.2	+	8	1070	c.1026C>T	c.(1024-1026)TAC>TAT	p.Y342Y	BCAM_uc002ozt.1_Silent_p.Y342Y	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	342	Extracellular (Potential).|Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGGATTACGACGCGGCAG	0.642													T	45317965	C	T	45317965	2	4	265	1	0	0	0	0	0	0	0	1	1344	547	19	1		1	BCAM	19	45317965	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	164718	45317965	13811018	823	132112											
ZNF296	162979	broad.mit.edu	37	chr19	45575805	45575805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaactgtttgccacagCgcaggcagctcaaggccttc	11	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45575805C>T	uc002pao.2	-	3	539	c.482G>A	c.(481-483)CGC>CAC	p.R161H		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	161	C2H2-type 1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTGCCACAGCGCAGGCAGCT	0.592													T	45575805	C	T	45575805	3	4	265	1	0	0	0	0	1	0	0	0	17825	768	27	1	949	1	ZNF296	19	45575805	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	257840	45575805	13553178	824	132113											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895174	45895174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtgggctgctctgggaCggggccgggggtggaatggg	23	7	2	0	rs148594569		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45895174C>T	uc002pbn.2	-	8	1856	c.1779G>A	c.(1777-1779)CCG>CCA	p.P593P	PPP1R13L_uc002pbm.2_Silent_p.P172P|PPP1R13L_uc002pbo.2_Silent_p.P593P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	593	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGCTCTGGGACGGGGCCGGGG	0.637													T	45895174	C	T	45895174	2	4	265	1	0	0	0	0	0	0	0	1	12358	523	19	1		1	PPP1R13L	19	45895174	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	319369	45895174	13233809	825	132114											
CCDC8	83987	broad.mit.edu	37	chr19	46914615	46914615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcaaaaccacgaaaagcGtccaggggtctggaacctca	10	12	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:46914615G>A	uc002pep.2	-	1	2305	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	485						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CACGAAAAGCGTCCAGGGGTC	0.622													A	46914615	G	A	46914615	3	1	265	1	0	0	0	0	1	0	0	0	2853	1145	40	1	167	1	CCDC8	19	46914615	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1019441	46914615	12214368	826	132115											
SLC8A2	6543	broad.mit.edu	37	chr19	47951139	47951139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgccgcgcgccgtgcCgtccaccgtgcggtagggaa	16	17	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:47951139C>T	uc002pgx.2	-	4	1968	c.1690G>A	c.(1690-1692)GGC>AGC	p.G564S	SLC8A2_uc010xyq.1_Missense_Mutation_p.G320S|SLC8A2_uc010xyr.1_Missense_Mutation_p.G27S|SLC8A2_uc010ele.2_Missense_Mutation_p.G564S	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	564	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		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)		CGCGCCGTGCCGTCCACCGTG	0.736													T	47951139	C	T	47951139	3	4	265	1	0	0	0	0	1	0	0	0	14707	652	23	1	1103	1	SLC8A2	19	47951139	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1036524	47951139	11177844	827	132116											
SYNGR4	23546	broad.mit.edu	37	chr19	48879543	48879544	+	Frame_Shift_Ins	INS	-	-	C													ctgtctgaccgctccaaagtINSccccccggcttgctatgatg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:48879543_48879544insC	uc002piz.2	+	5	918_919	c.673_674insC	c.(673-675)TCCfs	p.S225fs		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	225						integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CGCTCCAAAGTCCCCCCGGCTT	0.53													C	48879544	-	C	48879543	7	5	265	1	0	1	1	0	0	0	0	0	15448	1667	58	0	687	0	SYNGR4	19	48879543	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	928404	48879543	10249440	828	132117	685	2									
SYNGR4	23546	broad.mit.edu	37	chr19	48879544	48879545	+	Frame_Shift_Ins	INS	-	-	C													tgtctgaccgctccaaagtcINScccccggcttgctatgatgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:48879543_48879544T>TC	uc002piz.3	+	4	924_925	c.673_674T>TC	c.(673-675)tccfs	p.S225fs		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	225						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CGCTCCAAAGTCCCCCCGGCTT	0.53													C	48879545	-	C	48879544	7	5	265	1	0	1	1	0	0	0	0	0	15448	855	30	0	688	0	SYNGR4	19	48879544	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	48879544	10249439	829	132118	685	2									
GRIN2D	2906	broad.mit.edu	37	chr19	48908240	48908240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgcccagctccgcagtGtcagcgcgcagatccgcctg	12	16	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:48908240G>A	uc002pjc.3	+	3	803	c.715G>A	c.(715-717)GTC>ATC	p.V239I		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	239	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		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)	GCTCCGCAGTGTCAGCGCGCA	0.701													A	48908240	G	A	48908240	3	1	265	1	0	0	0	0	1	0	0	0	6782	1377	48	4	721	4	GRIN2D	19	48908240	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	28696	48908240	10220743	830	132119											
NUCB1	4924	broad.mit.edu	37	chr19	49404120	49404120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctcctgcttcgcGccgtgctggctgtccccctg	12	17	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:49404120G>A	uc002plb.3	+	2	139	c.67G>A	c.(67-69)GCC>ACC	p.A23T	NUCB1_uc002pla.2_Missense_Mutation_p.A23T|NUCB1_uc002plc.2_Missense_Mutation_p.A23T|TULP2_uc002pkz.2_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	23						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		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)		cctgctTCGCGCCGTGCTGGC	0.582													A	49404120	G	A	49404120	3	1	265	1	0	0	0	0	1	0	0	0	10718	1087	38	1	69	1	NUCB1	19	49404120	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	495880	49404120	9724863	831	132120											
PRR12	57479	broad.mit.edu	37	chr19	50099948	50099948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcctccttctggaggccGggggccctgacctcccactg	13	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50099948G>A	uc002poo.3	+	4	2356	c.2356G>A	c.(2356-2358)GGG>AGG	p.G786R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	481	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCTGGAGGCCGGGGGCCCTGA	0.706													A	50099948	G	A	50099948	3	1	265	1	0	0	0	0	1	0	0	0	12584	1116	39	1	2370	1	PRR12	19	50099948	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	695828	50099948	9029035	832	132121											
PRR12	57479	broad.mit.edu	37	chr19	50102880	50102880	+	Frame_Shift_Del	DEL	G	G	-													cttccggagcctttgggcttGggggcgccctggaggctgca							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50102880delG	uc002poo.3	+	5	4030	c.4030delG	c.(4030-4032)GGGfs	p.G1344fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	523	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTTTGGGCTTGGGGGCGCCCT	0.677													-	50102880	G	-	50102880	7	5	265	1	0	1	0	1	0	0	0	0	12584	1348	47	0	4048	0	PRR12	19	50102880	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	2932	50102880	9026103	833	132122											
PRR12	57479	broad.mit.edu	37	chr19	50128792	50128792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcatgcggaaccagccGtggctggaacagctctttga	13	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50128792G>A	uc002poo.3	+	14	6039	c.6039G>A	c.(6037-6039)CCG>CCA	p.P2013P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1192							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGAACCAGCCGTGGCTGGAAC	0.687													A	50128792	G	A	50128792	2	1	265	1	0	0	0	0	0	0	0	1	12584	1132	40	1		1	PRR12	19	50128792	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	25912	50128792	9000191	834	132123											
MYH14	79784	broad.mit.edu	37	chr19	50764826	50764826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccagctggaagaggagcGagacctgaaggtcaccgaca	15	11	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50764826G>A	uc002prr.1	+	19	2443	c.2396G>A	c.(2395-2397)CGA>CAA	p.R799Q	MYH14_uc010enu.1_Missense_Mutation_p.R840Q|MYH14_uc002prq.1_Missense_Mutation_p.R807Q	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	799	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGAGGAGCGAGACCTGAAG	0.642													A	50764826	G	A	50764826	3	1	265	1	0	0	0	0	1	0	0	0	10033	1058	37	1	2597	1	MYH14	19	50764826	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	636034	50764826	8364157	835	132124											
LRRC4B	94030	broad.mit.edu	37	chr19	51020885	51020885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgaagagcagaggttcGtggatggagttgaggccagg	17	6	1	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:51020885G>A	uc002pss.2	-	3	2222	c.2085C>T	c.(2083-2085)CAC>CAT	p.H695H	ASPDH_uc002psr.3_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	695	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGAGGTTCGTGGATGGAGT	0.592													A	51020885	G	A	51020885	2	1	265	1	0	0	0	0	0	0	0	1	9007	1136	40	1		1	LRRC4B	19	51020885	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	256059	51020885	8108098	836	132125											
KLK5	25818	broad.mit.edu	37	chr19	51453318	51453318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctggttgctcccagagGgcacggtgttagaggggtgg	19	8	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:51453318G>T	uc002pue.2	-	4	346	c.128C>A	c.(127-129)CCC>CAC	p.P43H	KLK5_uc002puf.2_Missense_Mutation_p.P43H|KLK5_uc002pug.2_Missense_Mutation_p.P43H	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	43				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GCTCCCAGAGGGCACGGTGTT	0.617													T	51453318	G	T	51453318	3	4	265	1	0	0	0	0	1	0	0	0	8407	1232	43	5	769	5	KLK5	19	51453318	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	432433	51453318	7675665	837	132126											
FPR3	2359	broad.mit.edu	37	chr19	52327577	52327577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgtagagaggttgaaCgtgttcattaccatggccaa	11	8	1	2	rs147264707		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:52327577C>T	uc002pxt.1	+	2	760	c.576C>T	c.(574-576)AAC>AAT	p.N192N		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	192	Extracellular (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						AGAGGTTGAACGTGTTCATTA	0.443													T	52327577	C	T	52327577	2	4	265	1	0	0	0	0	0	0	0	1	6040	535	19	1		1	FPR3	19	52327577	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	874259	52327577	6801406	838	132127											
ZNF615	284370	broad.mit.edu	37	chr19	52497070	52497070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttctctccagtatgagttCgttgatgtaccatgagacag	10	8	1	3	rs142913953	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:52497070C>T	uc002pye.1	-	6	1551	c.1259G>A	c.(1258-1260)CGA>CAA	p.R420Q	ZNF615_uc002pyf.1_Missense_Mutation_p.R431Q|ZNF615_uc002pyg.1_Missense_Mutation_p.R312Q|ZNF615_uc002pyh.1_Missense_Mutation_p.R431Q|ZNF615_uc010epi.1_Missense_Mutation_p.R427Q|ZNF615_uc010ydg.1_Missense_Mutation_p.R425Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	420	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGTATGAGTTCGTTGATGTAC	0.413													T	52497070	C	T	52497070	3	4	265	1	0	0	0	0	1	0	0	0	18037	884	31	1	940	1	ZNF615	19	52497070	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	169493	52497070	6631913	839	132128											
ZNF432	9668	broad.mit.edu	37	chr19	52537843	52537843	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgtatgatttcgttgAtgtatgatgacatagtgttt	9	5	1	4			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:52537843A>G	uc002pyk.2	-	5	1407	c.1089T>C	c.(1087-1089)CAT>CAC	p.H363H		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	363	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GATTTCGTTGATGTATGATGA	0.413													G	52537843	A	G	52537843	2	3	265	1	0	0	0	0	0	0	0	1	17903	330	12	3		3	ZNF432	19	52537843	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	40773	52537843	6591140	840	132129											
ZNF331	55422	broad.mit.edu	37	chr19	54080407	54080407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaaggcttttcgatGgggctcaagcctcgttattc	13	9	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:54080407G>T	uc002qbx.1	+	7	2027	c.593G>T	c.(592-594)TGG>TTG	p.W198L	ZNF331_uc002qby.1_Missense_Mutation_p.W198L|ZNF331_uc002qbz.1_Missense_Mutation_p.W198L|ZNF331_uc002qca.1_Missense_Mutation_p.W198L|ZNF331_uc010eqr.1_Missense_Mutation_p.W198L|ZNF331_uc002qcb.1_Missense_Mutation_p.W198L|ZNF331_uc002qcc.1_Missense_Mutation_p.W198L|ZNF331_uc002qcd.1_Missense_Mutation_p.W198L	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	198	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GCTTTTCGATGGGGCTCAAGC	0.458			T	?	follicular thyroid adenoma								T	54080407	G	T	54080407	3	4	265	1	0	0	0	0	1	0	0	0	17846	1357	47	5	603	5	ZNF331	19	54080407	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1542564	54080407	5048576	841	132130											
NLRP9	338321	broad.mit.edu	37	chr19	56228095	56228095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgcagaccaacttacaTcagcctctccagggcacagt	7	16	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:56228095T>C	uc002qly.2	-	5	2357	c.2329A>G	c.(2329-2331)ATG>GTG	p.M777V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	777	LRR 2.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCAACTTACATCAGCCTCTCC	0.542													C	56228095	T	C	56228095	3	2	265	1	0	0	0	0	1	0	0	0	10484	1449	50	3	666	3	NLRP9	19	56228095	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2147688	56228095	2900888	842	132131											
ZNF835	90485	broad.mit.edu	37	chr19	57176318	57176318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctccccaggcgcgctGcacctccgggaactgctgtc	13	17	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:57176318G>A	uc010ygo.1	-	2	315	c.315C>T	c.(313-315)TGC>TGT	p.C105C	ZNF835_uc010ygn.1_Silent_p.C83C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CAGGCGCGCTGCACCTCCGGG	0.642													A	57176318	G	A	57176318	2	1	265	1	0	0	0	0	0	0	0	1	18183	1311	46	2		2	ZNF835	19	57176318	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	948223	57176318	1952665	843	132132											
PEG3	5178	broad.mit.edu	37	chr19	57325147	57325147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcagcttgattggcacCacctgtgctggtgctggcac	11	13	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:57325147C>T	uc002qnu.2	-	7	5014	c.4663G>A	c.(4663-4665)GGT>AGT	p.G1555S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1526S|PEG3_uc002qnv.2_Missense_Mutation_p.G1555S|PEG3_uc002qnw.2_Missense_Mutation_p.G1431S|PEG3_uc002qnx.2_Missense_Mutation_p.G1429S|PEG3_uc010etr.2_Missense_Mutation_p.G1555S|PEG3AS_uc010ets.1_RNA	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1555					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATTGGCACCACCTGTGCTG	0.522													T	57325147	C	T	57325147	3	4	265	1	0	0	0	0	1	0	0	0	11720	594	21	4	107	4	PEG3	19	57325147	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	148829	57325147	1803836	844	132133											
TGM3	7053	broad.mit.edu	37	chr20	2298001	2298001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctgacttgcagcgctgCggtctttggggattccttcc	11	14	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:2298001C>T	uc002wfx.3	+	7	950	c.853C>T	c.(853-855)CGG>TGG	p.R285W		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	285					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			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	TGCAGCGCTGCGGTCTTTGGG	0.572													T	2298001	C	T	2298001	3	4	265	1	0	0	0	0	1	0	0	0	15828	759	27	1	879	1	TGM3	20	2298001	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		2298001	60727519	845	132134											
PTPRA	5786	broad.mit.edu	37	chr20	3007386	3007386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcggactggaaaccttccAgccaacatgaagaagaaccg	10	11	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:3007386A>G	uc010zqd.1	+	17	2018	c.1701A>G	c.(1699-1701)CCA>CCG	p.P567P	PTPRA_uc002whj.2_Silent_p.P556P|PTPRA_uc002whk.2_Silent_p.P547P|PTPRA_uc002whl.2_Silent_p.P547P|PTPRA_uc002whm.2_Silent_p.P323P|PTPRA_uc002whn.2_Silent_p.P547P|PTPRA_uc002who.2_Silent_p.P219P	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	556	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GAAACCTTCCAGCCAACATGA	0.473													G	3007386	A	G	3007386	2	3	265	1	0	0	0	0	0	0	0	1	12795	175	7	3		3	PTPRA	20	3007386	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	709385	3007386	60018134	846	132135											
SIGLEC1	6614	broad.mit.edu	37	chr20	3675129	3675129	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggaggaggcccagtcGtccagggcctgtgtccatca	14	13	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:3675129G>A	uc002wja.2	-	12	2995	c.2995C>T	c.(2995-2997)CGA>TGA	p.R999*	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Nonsense_Mutation_p.R999*	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	999	Ig-like C2-type 10.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AGGCCCAGTCGTCCAGGGCCT	0.672													A	3675129	G	A	3675129	4	1	265	1	0	0	0	0	0	1	0	0	14305	1153	40	1	2174	1	SIGLEC1	20	3675129	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	667743	3675129	59350391	847	132136											
SPTLC3	55304	broad.mit.edu	37	chr20	13071817	13071817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctttgggatgggattcGcaactaactcaatgaatatc	10	7	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:13071817G>A	uc002wod.1	+	5	983	c.694G>A	c.(694-696)GCA>ACA	p.A232T		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	232					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	GATGGGATTCGCAACTAACTC	0.413													A	13071817	G	A	13071817	3	1	265	1	0	0	0	0	1	0	0	0	15124	1087	38	1	712	1	SPTLC3	20	13071817	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	9396688	13071817	49953703	848	132137											
TP53INP2	58476	broad.mit.edu	37	chr20	33296586	33296586	+	Frame_Shift_Del	DEL	C	C	-													tcttcttcagcaccccctcgCcccccgaagaccccgactgc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:33296586delC	uc002xau.1	+	3	378	c.43delC	c.(43-45)CCCfs	p.P15fs		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	15						nucleus					0						CACCCCCTCGCCCCCCGAAGA	0.662													-	33296586	C	-	33296586	7	5	265	1	0	1	0	1	0	0	0	0	16386	739	26	0	45	0	TP53INP2	20	33296586	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	20224769	33296586	29728934	849	132138											
PROCR	10544	broad.mit.edu	37	chr20	33764529	33764529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagccgctcctacacttcGctggtcctgggcgtcctggt	11	15	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:33764529G>A	uc002xbt.2	+	4	814	c.630G>A	c.(628-630)TCG>TCA	p.S210S	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.S247S	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	210	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CCTACACTTCGCTGGTCCTGG	0.542													A	33764529	G	A	33764529	2	1	265	1	0	0	0	0	0	0	0	1	12547	1074	38	1		1	PROCR	20	33764529	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	467943	33764529	29260991	850	132139											
DLGAP4	22839	broad.mit.edu	37	chr20	35060934	35060934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccaccacccccgcccGcacccccagccacctgcccc	5	29	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:35060934G>A	uc002xff.2	+	3	1249	c.814G>A	c.(814-816)GCA>ACA	p.A272T	DLGAP4_uc010zvp.1_Missense_Mutation_p.A272T	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	272	Poly-Pro.				cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCCCCGCCCGCACCCCCAGC	0.627													A	35060934	G	A	35060934	3	1	265	1	0	0	0	0	1	0	0	0	4562	1087	38	1	816	1	DLGAP4	20	35060934	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1296405	35060934	27964586	851	132140											
SAMHD1	25939	broad.mit.edu	37	chr20	35521451	35521451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttgaggtgttatgagtgGggctataacatcgccatcct	11	7	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:35521451G>T	uc002xgh.1	-	16	1895	c.1765C>A	c.(1765-1767)CCA>ACA	p.P589T	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	589					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				GTTATGAGTGGGGCTATAACA	0.423													T	35521451	G	T	35521451	3	4	265	1	0	0	0	0	1	0	0	0	13828	1232	43	5	119	5	SAMHD1	20	35521451	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	460517	35521451	27504069	852	132141											
RALGAPB	57148	broad.mit.edu	37	chr20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-													aagtgctgctgtcagtaccaCccccccacataaccggaggc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(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						TGTCAGTACCACCCCCCCACA	0.443													-	37146233	C	-	37146233	7	5	265	1	0	1	0	1	0	0	0	0	13015	507	18	0	1162	0	RALGAPB	20	37146233	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	1624782	37146233	25879287	853	132142											
SLC32A1	140679	broad.mit.edu	37	chr20	37357202	37357202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgccatcttcgtcatcGgcggcatctgcagcgtgtcc	11	15	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:37357202G>A	uc002xjc.2	+	2	1761	c.1498G>A	c.(1498-1500)GGC>AGC	p.G500S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	500	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGTCATCGGCGGCATCTG	0.647													A	37357202	G	A	37357202	3	1	265	1	0	0	0	0	1	0	0	0	14565	1116	39	1	1504	1	SLC32A1	20	37357202	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	210969	37357202	25668318	854	132143											
PLCG1	5335	broad.mit.edu	37	chr20	39801287	39801287	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacttccagacccctggTgaggaagtcccctgtgagga	11	13	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:39801287T>C	uc002xjp.1	+	26	3251	c.3130_splice	c.e26+2	p.D1044_splice	PLCG1_uc002xjo.1_Splice_Site_p.D1044_splice|PLCG1_uc010zwe.1_Splice_Site_p.D670_splice	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b						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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				AGACCCCTGGTGAGGAAGTCC	0.567													C	39801287	T	C	39801287	5	2	265	1	0	0	0	0	0	0	1	0	12035	1710	59	3	3234	3	PLCG1	20	39801287	Splice_Site	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2444085	39801287	23224233	855	132144											
PTPRT	11122	broad.mit.edu	37	chr20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-													ccactatgggcccagcttccGgggggttgaggaacttgacc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:40739002_40739002CG>C	uc002xkg.3	-	22	3409	c.3225_3225CG>G	c.(3223-3225)ccgfs	p.P1075fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.P278fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1075	Tyrosine-protein phosphatase 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.H1075N(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)				GCCCAGCTTCCGGGGGGTTGA	0.627													-	40739003	G	-	40739003	7	5	265	1	0	1	0	1	0	0	0	0	12812	1116	39	0	1137	0	PTPRT	20	40739003	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	937716	40739003	22286517	856	132145											
PTPRT	11122	broad.mit.edu	37	chr20	41419958	41419958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcaccttcacgtagacGttcaaggcccctgggctgga	10	14	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:41419958G>A	uc002xkg.2	-	3	547	c.363C>T	c.(361-363)AAC>AAT	p.N121N	PTPRT_uc010ggj.2_Silent_p.N121N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	121	Extracellular (Potential).|MAM.				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCACGTAGACGTTCAAGGCCC	0.592													A	41419958	G	A	41419958	2	1	265	1	0	0	0	0	0	0	0	1	12812	1136	40	1		1	PTPRT	20	41419958	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	680955	41419958	21605562	857	132146											
MYBL2	4605	broad.mit.edu	37	chr20	42331253	42331253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaagtcctgccacccCgccagccttccgccctggtg	10	19	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:42331253C>T	uc002xlb.1	+	8	1290	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C	MYBL2_uc010zwj.1_Missense_Mutation_p.R335C|MYBL2_uc002xla.1_Missense_Mutation_p.R359C	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	359						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTGCCACCCCGCCAGCCTTC	0.607													T	42331253	C	T	42331253	3	4	265	1	0	0	0	0	1	0	0	0	10010	652	23	1	1105	1	MYBL2	20	42331253	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	911295	42331253	20694267	858	132147											
MMP9	4318	broad.mit.edu	37	chr20	44641175	44641175	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtaccgcttcactgagggGccccccttgcataaggacga	11	13	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:44641175G>C	uc002xqz.2	+	8	1303	c.1284G>C	c.(1282-1284)GGG>GGC	p.G428G		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	428					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCACTGAGGGGCCCCCCTTGC	0.627													C	44641175	G	C	44641175	2	2	265	1	0	0	0	0	0	0	0	1	9669	1190	42	5		5	MMP9	20	44641175	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2309922	44641175	18384345	859	132148											
CD40	958	broad.mit.edu	37	chr20	44757522	44757522	+	Frame_Shift_Del	DEL	C	C	-													tcacaccttgcctctccaggCcccccaccccaagcaggaac							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:44757522delC	uc002xrg.1	+	9	754	c.677delC	c.(676-678)GCCfs	p.A226fs	CD40_uc002xrh.1_3'UTR|CD40_uc002xri.1_3'UTR|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	226	Cytoplasmic (Potential).				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			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCTCTCCAGGCCCCCCACCCC	0.627									Immune_Deficiency_with_Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	44757522	C	-	44757522	7	5	265	1	0	1	0	1	0	0	0	0	3015	753	26	0	711	0	CD40	20	44757522	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	116347	44757522	18267998	860	132149											
ZNFX1	57169	broad.mit.edu	37	chr20	47864574	47864574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcagggccttaagccGttcctggctggttgctattt	11	12	0	0	rs150988771		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:47864574G>A	uc002xui.2	-	14	5234	c.4987C>T	c.(4987-4989)CGG>TGG	p.R1663W		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1663							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCTTAAGCCGTTCCTGGCTG	0.502													A	47864574	G	A	47864574	3	1	265	1	0	0	0	0	1	0	0	0	18202	1144	40	1	773	1	ZNFX1	20	47864574	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	3107052	47864574	15160946	861	132150											
B4GALT5	9334	broad.mit.edu	37	chr20	48252915	48252915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttttatacaaggcgtcGtatgtgatgtttgcaaagta	10	4	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:48252915G>A	uc002xuu.3	-	9	1295	c.1101C>T	c.(1099-1101)TAC>TAT	p.Y367Y		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	367	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493													A	48252915	G	A	48252915	2	1	265	1	0	0	0	0	0	0	0	1	1274	1140	40	1		1	B4GALT5	20	48252915	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	388341	48252915	14772605	862	132151											
SALL4	57167	broad.mit.edu	37	chr20	50408073	50408073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacccgggtcccatccgGcttcagagtgaagggtgcca	14	13	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:50408073G>A	uc002xwh.3	-	2	1050	c.949C>T	c.(949-951)CCG>TCG	p.P317S	SALL4_uc010gii.2_Missense_Mutation_p.P317S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	317					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GTCCCATCCGGCTTCAGAGTG	0.632													A	50408073	G	A	50408073	3	1	265	1	0	0	0	0	1	0	0	0	13813	1203	42	2	2224	2	SALL4	20	50408073	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2155158	50408073	12617447	863	132152											
PCK1	5105	broad.mit.edu	37	chr20	56140815	56140816	+	Frame_Shift_Ins	INS	-	-	GA													ccgacctcccctgtgaaatcINSgagagagagatccttgcctt					rs17847705		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:56140815_56140816insGA	uc002xyn.3	+	10	1987_1988	c.1824_1825insGA	c.(1822-1827)ATCGAGfs	p.I608fs	PCK1_uc010zzm.1_Frame_Shift_Ins_p.I291fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	608_609					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			skin(1)	1	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)			CCTGTGAAATCGAGAGAGAGAT	0.465													GA	56140816	-	GA	56140815	7	5	265	1	0	1	1	0	0	0	0	0	11581	874	31	0	1858	0	PCK1	20	56140815	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	5732742	56140815	6884705	864	132153	686	2									
PCK1	5105	broad.mit.edu	37	chr20	56140816	56140817	+	Frame_Shift_Ins	INS	-	-	GA													cgacctcccctgtgaaatcgINSagagagagatccttgccttg					rs17847705		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:56140815_56140816C>CGA	uc002xyn.4	+	9	1987_1988	c.1824_1825C>CGA	c.(1822-1827)atcgagfs	p.I608fs	PCK1_uc010zzm.2_Frame_Shift_Ins_p.I291fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	608					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid 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)			CCTGTGAAATCGAGAGAGAGAT	0.465													GA	56140817	-	GA	56140816	7	5	265	1	0	1	1	0	0	0	0	0	11581	1059	37	0	1859	0	PCK1	20	56140816	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1	56140816	6884704	865	132154	686	2									
LAMA5	3911	broad.mit.edu	37	chr20	60886294	60886294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaactggtaggagtctcGggtggtcctgaggtgtgggg	18	8	1	1	rs150238261	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:60886294G>A	uc002ycq.2	-	73	10079	c.10012C>T	c.(10012-10014)CGA>TGA	p.R3338*		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3338					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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGGAGTCTCGGGTGGTCCTG	0.682													A	60886294	G	A	60886294	4	1	265	1	0	0	0	0	0	1	0	0	8609	1124	39	1	1107	1	LAMA5	20	60886294	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	4745478	60886294	2139226	866	132155											
DIDO1	11083	broad.mit.edu	37	chr20	61512074	61512074	+	Frame_Shift_Del	DEL	C	C	-													cctgaaacgggggctgagagCcccccactttctgtcctggt							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:61512073_61512073GC>G	uc002ydr.2	-	15	5547	c.5235_5235GC>C	c.(5233-5235)ggcfs	p.G1745fs	DIDO1_uc002yds.2_Frame_Shift_Del_p.G1745fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1745	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)					GGGGCTGAGAGCCCCCCACTT	0.682													-	61512074	C	-	61512074	7	5	265	1	0	1	0	1	0	0	0	0	4522	739	26	0	1492	0	DIDO1	20	61512074	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	625780	61512074	1513446	867	132156											
CYYR1	116159	broad.mit.edu	37	chr21	27840848	27840849	+	Frame_Shift_Ins	INS	-	-	G													tgcgtttccaggataaggagINSggggtggagaacgctgtgct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:27840847_27840848A>AG	uc002yme.3	-	3	762_763	c.440_441T>CT	c.(439-441)cctfs	p.P147fs	CYYR1_uc002ymd.3_Frame_Shift_Ins_p.P146fs|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	146	Poly-Pro.					integral to membrane		p.P147T(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CAGGATAAGGAGGGGGTGGAGA	0.535													G	27840849	-	G	27840848	7	5	265	1	0	1	1	0	0	0	0	0	4211	1000	35	0	31	0	CYYR1	21	27840848	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08		27840848	20289047	868	132157											
SON	6651	broad.mit.edu	37	chr21	34925673	34925673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgactgtcctggagtcttCgactgtaactgtcctggagc	12	10	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:34925673C>T	uc002yse.1	+	3	4185	c.4136C>T	c.(4135-4137)TCG>TTG	p.S1379L	SON_uc002ysb.1_Missense_Mutation_p.S1379L|SON_uc002ysc.2_Missense_Mutation_p.S1379L|SON_uc002ysd.2_Missense_Mutation_p.S370L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S370L	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1379	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				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			ovary(4)|skin(2)	6						CTGGAGTCTTCGACTGTAACT	0.577													T	34925673	C	T	34925673	3	4	265	1	0	0	0	0	1	0	0	0	14926	893	31	1	4146	1	SON	21	34925673	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7084825	34925673	13204222	869	132158											
DOPEY2	9980	broad.mit.edu	37	chr21	37581040	37581040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgctcctgagactgtcGctggtggttggcaaagaggt	15	9	1	2	rs143348611		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:37581040G>A	uc002yvg.2	+	5	598	c.519G>A	c.(517-519)TCG>TCA	p.S173S	DOPEY2_uc011aeb.1_Silent_p.S173S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	173					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TGAGACTGTCGCTGGTGGTTG	0.612													A	37581040	G	A	37581040	2	1	265	1	0	0	0	0	0	0	0	1	4708	1074	38	1		1	DOPEY2	21	37581040	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2655367	37581040	10548855	870	132159											
DOPEY2	9980	broad.mit.edu	37	chr21	37605196	37605196	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaacgtggccatttcCactctgctggaagtgataaa	9	11	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:37605196C>A	uc002yvg.2	+	15	2524	c.2445C>A	c.(2443-2445)TCC>TCA	p.S815S	DOPEY2_uc011aeb.1_Silent_p.S815S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	815					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TGGCCATTTCCACTCTGCTGG	0.483													A	37605196	C	A	37605196	2	1	265	1	0	0	0	0	0	0	0	1	4708	581	21	5		5	DOPEY2	21	37605196	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	24156	37605196	10524699	871	132160											
HLCS	3141	broad.mit.edu	37	chr21	38309376	38309376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaatgttctcggcagaCgcaaacttgactgactcaat	9	10	3	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:38309376C>T	uc010gnb.2	-	4	1570	c.369G>A	c.(367-369)GCG>GCA	p.A123A	HLCS_uc002yvs.2_Silent_p.A123A|HLCS_uc010gnc.1_Silent_p.A270A	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	123					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			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTCGGCAGACGCAAACTTGA	0.527													T	38309376	C	T	38309376	2	4	265	1	0	0	0	0	0	0	0	1	7213	523	19	1		1	HLCS	21	38309376	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	704180	38309376	9820519	872	132161											
TTC3	7267	broad.mit.edu	37	chr21	38512963	38512963	+	Frame_Shift_Del	DEL	A	A	-													gaattggaaaagtatatttgAaaaaaaacaggttagtagaa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:38512963delA	uc002yvz.2	+	20	1867	c.1762delA	c.(1762-1764)AAAfs	p.K588fs	TTC3_uc011aee.1_Frame_Shift_Del_p.K278fs|TTC3_uc002ywa.2_Frame_Shift_Del_p.K588fs|TTC3_uc002ywb.2_Frame_Shift_Del_p.K588fs|TTC3_uc010gnf.2_Frame_Shift_Del_p.K353fs|TTC3_uc002ywc.2_Frame_Shift_Del_p.K278fs|TTC3_uc011aed.1_Frame_Shift_Del_p.K278fs|TTC3_uc010gne.1_Frame_Shift_Del_p.K588fs	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	588	TPR 4.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AGTATATTTGAAAAAAAACAG	0.348													-	38512963	A	-	38512963	7	5	265	1	0	1	0	1	0	0	0	0	16694	247	9	0	1836	0	TTC3	21	38512963	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	203587	38512963	9616932	873	132162											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057624	46057624	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggcctgctgtgtgcCtgtctgctgtgtgcccgtct	13	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:46057624C>A	uc002zfq.2	+	1	352	c.290C>A	c.(289-291)CCT>CAT	p.P97H	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).|5.					keratin filament					0						tgctgtgtgcctgtctgctgt	0.328													A	46057624	C	A	46057624	3	1	265	1	0	0	0	0	1	0	0	0	8506	681	24	5	292	5	KRTAP10-10	21	46057624	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	7544661	46057624	2072271	874	132163											
SUMO3	6612	broad.mit.edu	37	chr21	46226885	46226885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagaaactgtgccctgccAggctgctctccggcacacct	9	16	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:46226885A>G	uc002zfz.1	-	4	454	c.293T>C	c.(292-294)CTG>CCG	p.L98P	SUMO3_uc011afi.1_Missense_Mutation_p.L136P|SUMO3_uc002zga.1_Missense_Mutation_p.W115R	NM_006936	NP_008867	P55854	SUMO3_HUMAN	small ubiquitin-like modifier protein 3	98					protein sumoylation	cytoplasm|kinetochore	protein binding				0				Colorectal(79;0.058)		GTGCCCTGCCAGGCTGCTCTC	0.617													G	46226885	A	G	46226885	3	3	265	1	0	0	0	0	1	0	0	0	15386	188	7	3	22	3	SUMO3	21	46226885	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	169261	46226885	1903010	875	132164											
COL18A1	80781	broad.mit.edu	37	chr21	46916425	46916425	+	Frame_Shift_Del	DEL	C	C	-													tccccacagggaatgcccggCcccccaggacctccagggcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:46916425delC	uc011afs.1	+	29	3786	c.3765delC	c.(3763-3765)GGCfs	p.G1255fs	COL18A1_uc002zhg.2_Frame_Shift_Del_p.G840fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.G1020fs	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1255	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAATGCCCGGCCCCCCAGGAC	0.582													-	46916425	C	-	46916425	7	5	265	1	0	1	0	1	0	0	0	0	3675	726	26	0	3993	0	COL18A1	21	46916425	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	689540	46916425	1213470	876	132165											
FTCD	10841	broad.mit.edu	37	chr21	47571482	47571482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggggtcacctggtccttcCcgcggccctgctcccgcagg	13	18	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:47571482C>A	uc002zif.2	-	5	670	c.626G>T	c.(625-627)GGG>GTG	p.G209V	FTCD_uc002zig.2_Missense_Mutation_p.G209V|FTCD_uc002zih.2_Missense_Mutation_p.G209V|FTCD_uc010gqf.2_Missense_Mutation_p.G209V|FTCD_uc010gqg.1_Missense_Mutation_p.G78V	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	209	Formiminotransferase C-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			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGTCCTTCCCGCGGCCCTG	0.652													A	47571482	C	A	47571482	3	1	265	1	0	0	0	0	1	0	0	0	6081	623	22	5	1039	5	FTCD	21	47571482	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	655057	47571482	558413	877	132166											
DIP2A	23181	broad.mit.edu	37	chr21	47952045	47952045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcctgttgtaggtggcGctcgtgtttccgaatagtga	13	7	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:47952045G>A	uc002zjo.2	+	10	1383	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A	DIP2A_uc011afy.1_Silent_p.A336A|DIP2A_uc011afz.1_Silent_p.A396A|DIP2A_uc002zjl.2_Silent_p.A400A|DIP2A_uc002zjm.2_Silent_p.A400A|DIP2A_uc010gql.2_Silent_p.A357A|DIP2A_uc002zjn.2_Silent_p.A400A|DIP2A_uc002zjp.1_Silent_p.A145A	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	400					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		TGTAGGTGGCGCTCGTGTTTC	0.373													A	47952045	G	A	47952045	2	1	265	1	0	0	0	0	0	0	0	1	4527	1074	38	1		1	DIP2A	21	47952045	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	380563	47952045	177850	878	132167											
IL17RA	23765	broad.mit.edu	37	chr22	17589282	17589282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccgaccaccccctctaCgtggacgtggtcctgaaatt	9	15	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:17589282C>T	uc002zly.2	+	13	1306	c.1173C>T	c.(1171-1173)TAC>TAT	p.Y391Y	IL17RA_uc010gqt.2_Silent_p.Y339Y	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	391	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCCCCTCTACGTGGACGTGG	0.627													T	17589282	C	T	17589282	2	4	265	1	0	0	0	0	0	0	0	1	7639	547	19	1		1	IL17RA	22	17589282	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08		17589282	33715284	879	132168											
CECR1	51816	broad.mit.edu	37	chr22	17662900	17662900	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtggttcctcaagtcagacaCcagtttcagcacctgcgcaa	9	13	3	1	rs142726959	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:17662900C>G	uc002zmk.1	-	8	1464	c.1252G>C	c.(1252-1254)GTG>CTG	p.V418L	CECR1_uc010gqu.1_Missense_Mutation_p.V418L|CECR1_uc011agi.1_Missense_Mutation_p.V376L|CECR1_uc002zmj.1_Missense_Mutation_p.V177L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	418					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			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAGTCAGACACCAGTTTCAGC	0.527													G	17662900	C	G	17662900	3	3	265	1	0	0	0	0	1	0	0	0	3205	507	18	5	291	5	CECR1	22	17662900	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	73618	17662900	33641666	880	132169											
MICAL3	57553	broad.mit.edu	37	chr22	18300311	18300311	+	Frame_Shift_Del	DEL	G	G	-													cttctccttcttgtttctgcGgggggagaagagtgacgacc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:18300311delG	uc002zng.3	-	26	5469	c.5116delC	c.(5116-5118)CGCfs	p.R1706fs	MICAL3_uc011agl.1_Frame_Shift_Del_p.R1622fs|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1706						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TTGTTTCTGCGGGGGGAGAAG	0.622													-	18300311	G	-	18300311	7	5	265	1	0	1	0	1	0	0	0	0	9571	1116	39	0	920	0	MICAL3	22	18300311	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	637411	18300311	33004255	881	132170											
TSSK2	23617	broad.mit.edu	37	chr22	19119732	19119732	+	Frame_Shift_Del	DEL	C	C	-													tcagccactcgtggctgcagCcccccaagcccaaagccacg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:19119731_19119731GC>G	uc002zow.2	+	0	1411	c.819_819GC>G	c.(817-819)cagfs	p.Q273fs	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	273					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)					CGTGGCTGCAGCCCCCCAAGC	0.622													-	19119732	C	-	19119732	7	5	265	1	0	1	0	1	0	0	0	0	16666	739	26	0	822	0	TSSK2	22	19119732	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	819421	19119732	32184834	882	132171											
CLTCL1	8218	broad.mit.edu	37	chr22	19175080	19175080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccaaccttgtagagaTgatccttcttgcagagctcc	9	13	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:19175080T>C	uc002zpb.2	-	30	4670	c.4595A>G	c.(4594-4596)CAT>CGT	p.H1532R	CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.H1511R|CLTCL1_uc011agt.1_Missense_Mutation_p.H323R|CLTCL1_uc011agu.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1532	Proximal segment.|Heavy chain arm.				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			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CTTGTAGAGATGATCCTTCTT	0.557			T	?	ALCL								C	19175080	T	C	19175080	3	2	265	1	0	0	0	0	1	0	0	0	3567	1464	51	3	343	3	CLTCL1	22	19175080	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	55348	19175080	32129486	883	132172											
ZDHHC8	29801	broad.mit.edu	37	chr22	20131091	20131091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgtcgtcctcctccctGcaggctgatcaggccagcag	12	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:20131091G>A	uc002zrq.2	+	10	2044	c.1938G>A	c.(1936-1938)CTG>CTA	p.L646L	ZDHHC8_uc002zrr.1_Silent_p.L646L|ZDHHC8_uc010gsa.2_Silent_p.L452L	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	646	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CCTCCTCCCTGCAGGCTGATC	0.736													A	20131091	G	A	20131091	2	1	265	1	0	0	0	0	0	0	0	1	17618	1306	46	2		2	ZDHHC8	22	20131091	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	956011	20131091	31173475	884	132173											
PI4KA	5297	broad.mit.edu	37	chr22	21188946	21188947	+	Splice_Site	INS	-	-	A													accacacaatctttgtgctaINSaaaaataataagaagaataa							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:21188945_21188946T>TA	uc002zsz.4	-	3	361	c.100_splice	c.e3-1	p.H34_splice	PI4KA_uc010gsq.2_Splice_Site_p.H120_splice	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	34					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)			ATCTTTGTGCtaaaaaataata	0.356													A	21188947	-	A	21188946	8	5	265	1	0	1	1	0	0	0	1	0	11873	377	13	0		0	PI4KA	22	21188946	Splice_Site	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1057855	21188946	30115620	885	132174											
GNAZ	2781	broad.mit.edu	37	chr22	23438292	23438292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgggccgacccaggggCacaggcctgcttcagccgct	14	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:23438292C>T	uc002zwu.1	+	2	947	c.410C>T	c.(409-411)GCA>GTA	p.A137V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	137						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			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GACCCAGGGGCACAGGCCTGC	0.662													T	23438292	C	T	23438292	3	4	265	1	0	0	0	0	1	0	0	0	6514	710	25	2	412	2	GNAZ	22	23438292	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2249346	23438292	27866274	886	132175											
AP1B1	162	broad.mit.edu	37	chr22	29747232	29747232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacatccacttctgttgcGtactctttcagctctgccaa	5	15	4	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:29747232G>A	uc003afj.2	-	9	1267	c.1083C>T	c.(1081-1083)TAC>TAT	p.Y361Y	AP1B1_uc003afi.2_Silent_p.Y361Y|AP1B1_uc003afk.2_Silent_p.Y361Y|AP1B1_uc003afl.2_Silent_p.Y361Y|AP1B1_uc011ako.1_5'Flank	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	361					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			ovary(1)|skin(1)	2						CTTCTGTTGCGTACTCTTTCA	0.562													A	29747232	G	A	29747232	2	1	265	1	0	0	0	0	0	0	0	1	731	1140	40	1		1	AP1B1	22	29747232	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	6308940	29747232	21557334	887	132176											
RNF215	200312	broad.mit.edu	37	chr22	30776328	30776328	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgctgggcctggaccacGaggcctgtgcacaggagcat	15	13	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:30776328G>A	uc003ahp.2	-	6	807	c.807C>T	c.(805-807)CTC>CTT	p.L269L	RNF215_uc011akw.1_Silent_p.L174L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	269	Helical; (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						CCTGGACCACGAGGCCTGTGC	0.701													A	30776328	G	A	30776328	2	1	265	1	0	0	0	0	0	0	0	1	13479	1045	37	1		1	RNF215	22	30776328	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1029096	30776328	20528238	888	132177											
SEC14L4	284904	broad.mit.edu	37	chr22	30891933	30891933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttcggagcatgtcttcGgatttctgcaggtcaaagtt	10	10	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:30891933G>A	uc003aid.2	-	3	256	c.156C>T	c.(154-156)TCC>TCT	p.S52S	SEC14L4_uc011akz.1_Silent_p.S52S|SEC14L4_uc003aie.2_Missense_Mutation_p.P21L|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	52						integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	GCATGTCTTCGGATTTCTGCA	0.498													A	30891933	G	A	30891933	2	1	265	1	0	0	0	0	0	0	0	1	13984	1103	39	1		1	SEC14L4	22	30891933	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	115605	30891933	20412633	889	132178											
SMTN	6525	broad.mit.edu	37	chr22	31491333	31491333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctgcagcagtggaagcGgccaatggggctgagcagac	16	11	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:31491333G>A	uc003ajl.1	+	12	1895	c.1677G>A	c.(1675-1677)GCG>GCA	p.A559A	SMTN_uc003ajk.1_Silent_p.A559A|SMTN_uc003ajm.1_Silent_p.A559A|SMTN_uc011ale.1_Silent_p.A644A|SMTN_uc011alf.1_Silent_p.A615A|SMTN_uc003ajn.1_Silent_p.A582A|SMTN_uc011alg.1_Silent_p.A15A|SMTN_uc003ajo.1_Silent_p.A158A|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Silent_p.A15A	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	559					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						CAGTGGAAGCGGCCAATGGGG	0.582													A	31491333	G	A	31491333	2	1	265	1	0	0	0	0	0	0	0	1	14814	1103	39	1		1	SMTN	22	31491333	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	599400	31491333	19813233	890	132179											
TIMP3	7078	broad.mit.edu	37	chr22	33255324	33255325	+	Frame_Shift_Ins	INS	-	-	C													agctggtaccgaggatgggcINSccccccggataaaagcatca							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:33255323_33255324G>GC	uc003anb.3	+	4	1781_1782	c.595_596G>GC	c.(595-597)gccfs	p.A199fs	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604													C	33255325	-	C	33255324	7	5	265	1	0	1	1	0	0	0	0	0	15916	739	26	0	614	0	TIMP3	22	33255324	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	1763991	33255324	18049242	891	132180											
MYH9	4627	broad.mit.edu	37	chr22	36698705	36698705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcggtaagctgctgcTgccgcttggcaaatgctctg	13	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:36698705T>C	uc003apg.2	-	20	2639	c.2408A>G	c.(2407-2409)CAG>CGG	p.Q803R	MYH9_uc003aph.1_Missense_Mutation_p.Q667R	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	803	IQ.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AAGCTGCTGCTGCCGCTTGGC	0.597			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				C	36698705	T	C	36698705	3	2	265	1	0	0	0	0	1	0	0	0	10042	1580	55	3	3562	3	MYH9	22	36698705	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	3443381	36698705	14605861	892	132181											
MYH9	4627	broad.mit.edu	37	chr22	36737462	36737463	+	Frame_Shift_Ins	INS	-	-	G													tgtgatggcatagatgtgagINSggggcatctcgtgcctcttc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:36737461_36737462A>AG	uc003apg.3	-	2	674_675	c.443_444T>CT	c.(442-444)cctfs	p.P148fs	MYH9_uc003aph.1_Frame_Shift_Ins_p.P12fs|MYH9_uc003api.1_Frame_Shift_Ins_p.P148fs	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	148	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	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|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						CATAGATGTGAGGGGGCATCTC	0.53			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				G	36737463	-	G	36737462	7	5	265	1	0	1	1	0	0	0	0	0	10042	1000	35	0	5595	0	MYH9	22	36737462	Frame_Shift_Ins	INS	-	TCGA-HU-A4G9-01A-11D-A24D-08	38757	36737462	14567104	893	132182											
GGA1	26088	broad.mit.edu	37	chr22	38021822	38021822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagcacctcggccctgcTggatctctcaggcctggatc	13	14	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:38021822T>C	uc003atc.2	+	11	1324	c.959T>C	c.(958-960)CTG>CCG	p.L320P	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.L320P|GGA1_uc003atf.2_Missense_Mutation_p.L247P	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	320	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					TCGGCCCTGCTGGATCTCTCA	0.667													C	38021822	T	C	38021822	3	2	265	1	0	0	0	0	1	0	0	0	6352	1580	55	3	1067	3	GGA1	22	38021822	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	1284360	38021822	13282744	894	132183											
PICK1	9463	broad.mit.edu	37	chr22	38470380	38470380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcctgatcctgcgctgcCgccaggaggcgcgcgcccgc	14	19	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:38470380C>T	uc003auq.2	+	12	1291	c.901C>T	c.(901-903)CGC>TGC	p.R301C	PICK1_uc003aur.2_Missense_Mutation_p.R301C|PICK1_uc003aus.2_Missense_Mutation_p.R301C|PICK1_uc003aut.2_Missense_Mutation_p.R301C	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	301	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				0	Melanoma(58;0.045)					CCTGCGCTGCCGCCAGGAGGC	0.687											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38470380	C	T	38470380	3	4	265	1	0	0	0	0	1	0	0	0	11881	652	23	1	943	1	PICK1	22	38470380	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	448558	38470380	12834186	895	132184											
DNAL4	10126	broad.mit.edu	37	chr22	39175613	39175613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctttgatcatcttggcGgcgctctggaaggaagaggg	15	8	4	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:39175613G>A	uc003awj.2	-	4	387	c.159C>T	c.(157-159)GCC>GCT	p.A53A	SUN2_uc010gxr.1_Intron	NM_005740	NP_005731	O96015	DNAL4_HUMAN	dynein light chain 4, axonemal	53					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity				0	Melanoma(58;0.04)					TCATCTTGGCGGCGCTCTGGA	0.587													A	39175613	G	A	39175613	2	1	265	1	0	0	0	0	0	0	0	1	4658	1103	39	1		1	DNAL4	22	39175613	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	705233	39175613	12128953	896	132185											
L3MBTL2	83746	broad.mit.edu	37	chr22	41609902	41609903	+	Frame_Shift_Del	DEL	TG	TG	-													aagttctcttcccagctgtcTgtgagatgtgtggtatcgtg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:41609902_41609903delTG	uc003azo.2	+	3	322_323	c.268_269delTG	c.(268-270)TGTfs	p.C90fs	L3MBTL2_uc010gyi.1_5'UTR|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	90	FCS-type.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						CCCAGCTGTCTGTGAGATGTGT	0.52													-	41609903	TG	-	41609902	7	5	265	1	0	1	0	1	0	0	0	0	8592	1580	55	0	278	0	L3MBTL2	22	41609902	Frame_Shift_Del	DEL	TG	TCGA-HU-A4G9-01A-11D-A24D-08	2434289	41609902	9694664	897	132186											
POLDIP3	84271	broad.mit.edu	37	chr22	43010846	43010846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcctgatgagttcgtcCagggagatgtccgccatctt	11	12	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:43010846C>T	uc003bcu.2	-	1	117	c.18G>A	c.(16-18)CTG>CTA	p.L6L	POLDIP3_uc003bcv.2_Silent_p.L6L|POLDIP3_uc011apq.1_Silent_p.L6L|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Silent_p.L6L	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	6					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						TGAGTTCGTCCAGGGAGATGT	0.657													T	43010846	C	T	43010846	2	4	265	1	0	0	0	0	0	0	0	1	12195	581	21	4		4	POLDIP3	22	43010846	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1400944	43010846	8293720	898	132187											
SCUBE1	80274	broad.mit.edu	37	chr22	43735179	43735179	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaggacttgggcgtgttctGacagatggcatcgatgtggc	16	7	1	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:43735179G>A	uc003bdt.1	-	2	239	c.151C>T	c.(151-153)CAG>TAG	p.Q51*	SCUBE1_uc003bdu.1_Nonsense_Mutation_p.Q51*	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	51	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCGTGTTCTGACAGATGGCA	0.597													A	43735179	G	A	43735179	4	1	265	1	0	0	0	0	0	1	0	0	13944	1299	45	4	2899	4	SCUBE1	22	43735179	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	724333	43735179	7569387	899	132188											
CELSR1	9620	broad.mit.edu	37	chr22	46860057	46860057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttctggacgttgaagaCgaagacgtcgtccttggtgg	15	8	1	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:46860057C>T	uc003bhw.1	-	2	3730	c.3730G>A	c.(3730-3732)GTC>ATC	p.V1244I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1244	Extracellular (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		ACGTTGAAGACGAAGACGTCG	0.642													T	46860057	C	T	46860057	3	4	265	1	0	0	0	0	1	0	0	0	3221	536	19	1	5450	1	CELSR1	22	46860057	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	3124878	46860057	4444509	900	132189											
CELSR1	9620	broad.mit.edu	37	chr22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-													tcttaggcccagcgctgccgCcccccagaaaggtggaggcc							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:46931227delC	uc003bhw.1	-	1	1841	c.1841delG	c.(1840-1842)GGCfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	614	Extracellular (Potential).|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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		AGCGCTGCCGCCCCCCAGAAA	0.657													-	46931227	C	-	46931227	7	5	265	1	0	1	0	1	0	0	0	0	3221	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	71170	46931227	4373339	901	132190											
TBC1D22A	25771	broad.mit.edu	37	chr22	47274558	47274558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaacagaggaattacGgaggttgagctggtccggaa	13	7	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:47274558G>A	uc003bib.2	+	5	782	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	TBC1D22A_uc010haf.2_Missense_Mutation_p.R186Q|TBC1D22A_uc003bic.2_Missense_Mutation_p.R157Q|TBC1D22A_uc003bie.2_Missense_Mutation_p.R138Q|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R169Q	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	216						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		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)		GAGGAATTACGGAGGTTGAGC	0.488													A	47274558	G	A	47274558	3	1	265	1	0	0	0	0	1	0	0	0	15608	1116	39	1	665	1	TBC1D22A	22	47274558	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	343331	47274558	4030008	902	132191											
ZBED4	9889	broad.mit.edu	37	chr22	50279276	50279276	+	Frame_Shift_Del	DEL	A	A	-													acgattctcacccagttgccAaaaaaatcacaagtctcata							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:50279275_50279275CA>C	uc003bix.2	+	1	2435	c.1965_1965CA>C	c.(1963-1965)gccfs	p.A655fs	ZBED4_uc021wrx.1_Frame_Shift_Del_p.A655fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	655						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)		ACCCAGTTGCCAAAAAAATCA	0.468													-	50279276	A	-	50279276	7	5	265	1	0	1	0	1	0	0	0	0	17517	131	5	0	1968	0	ZBED4	22	50279276	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	3004718	50279276	1025290	903	132192											
TUBGCP6	85378	broad.mit.edu	37	chr22	50658779	50658779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgatgctcccctcccCgcagcccgagctgggggagg	14	17	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:50658779C>T	uc003bkb.1	-	16	4521	c.4009G>A	c.(4009-4011)GGG>AGG	p.G1337R	TUBGCP6_uc003bka.1_Missense_Mutation_p.G424R|TUBGCP6_uc010har.1_Missense_Mutation_p.G1329R|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1337					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		CTCCCCTCCCCGCAGCCCGAG	0.652													T	50658779	C	T	50658779	3	4	265	1	0	0	0	0	1	0	0	0	16767	652	23	1	1490	1	TUBGCP6	22	50658779	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	379503	50658779	645787	904	132193											
SBF1	6305	broad.mit.edu	37	chr22	50901738	50901738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagttcatcatacggaCgacaaagtcaaactgctggt	10	10	3	0	rs146850293	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:50901738C>T	uc003blh.2	-	16	2068	c.1873G>A	c.(1873-1875)GTC>ATC	p.V625I	SBF1_uc011arx.1_Missense_Mutation_p.V289I|SBF1_uc003bli.2_Missense_Mutation_p.V626I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	625					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		ATCATACGGACGACAAAGTCA	0.627													T	50901738	C	T	50901738	3	4	265	1	0	0	0	0	1	0	0	0	13858	536	19	1	3912	1	SBF1	22	50901738	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	242959	50901738	402828	905	132194											
CSF2RA	1438	broad.mit.edu	37	chrX	1409308	1409308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacctggataacctgtcAggattaacgtctcgcaatta	8	10	3	0	rs144461474	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:1409308A>G	uc010nct.2	+	8	874	c.552A>G	c.(550-552)TCA>TCG	p.S184S	CSF2RA_uc011mhb.1_Silent_p.S184S|CSF2RA_uc004cpq.2_Silent_p.S184S|CSF2RA_uc004cpn.2_Silent_p.S184S|CSF2RA_uc004cpo.2_Silent_p.S184S|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.S51S|CSF2RA_uc004cpp.2_Silent_p.S184S|CSF2RA_uc010ncv.2_Silent_p.S184S|CSF2RA_uc004cpr.2_Silent_p.S184S	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	184	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		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)	ATAACCTGTCAGGATTAACGT	0.398													G	1409308	A	G	1409308	2	3	265	1	0	0	0	0	0	0	0	1	3934	175	7	3		3	CSF2RA	23	1409308	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08		1409308	153861252	906	132195											
ZBED1	9189	broad.mit.edu	37	chrX	2406990	2406990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggccaggcggtctgaccAccacttgagggggtcttcgt	16	11	2	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:2406990A>G	uc004cqg.2	-	2	1972	c.1771T>C	c.(1771-1773)TGG>CGG	p.W591R	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.W591R	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	591						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				CGGTCTGACCACCACTTGAGG	0.637													G	2406990	A	G	2406990	3	3	265	1	0	0	0	0	1	0	0	0	17514	159	6	3	317	3	ZBED1	23	2406990	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	997682	2406990	152863570	907	132196											
ZBED1	9189	broad.mit.edu	37	chrX	2408297	2408297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcataccgggggtcggccGtcttcagcagcaccttgaag	13	13	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:2408297G>A	uc004cqg.2	-	2	665	c.464C>T	c.(463-465)ACG>ATG	p.T155M	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.T155M	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	155						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				GGGGTCGGCCGTCTTCAGCAG	0.647													A	2408297	G	A	2408297	3	1	265	1	0	0	0	0	1	0	0	0	17514	1145	40	1	1624	1	ZBED1	23	2408297	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1307	2408297	152862263	908	132197											
PHEX	5251	broad.mit.edu	37	chrX	22095682	22095682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgaatctaatattggCcctgaaggggtttggtcaga	13	6	2	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:22095682C>T	uc004dah.2	+	5	728	c.525C>T	c.(523-525)GGC>GGT	p.G175G	PHEX_uc011mjr.1_Silent_p.G175G|PHEX_uc011mjs.1_Silent_p.G78G	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	175	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						CTAATATTGGCCCTGAAGGGG	0.483													T	22095682	C	T	22095682	2	4	265	1	0	0	0	0	0	0	0	1	11819	726	26	2		2	PHEX	23	22095682	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	19687385	22095682	133174878	909	132198											
PHEX	5251	broad.mit.edu	37	chrX	22129611	22129611	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgccaactatttggtgtggaGaatggtttattccagaattc	10	6	0	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:22129611G>T	uc004dah.2	+	10	1309	c.1106G>T	c.(1105-1107)AGA>ATA	p.R369I	PHEX_uc011mjr.1_Missense_Mutation_p.R369I|PHEX_uc011mjs.1_Missense_Mutation_p.R272I	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	369	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TTGGTGTGGAGAATGGTTTAT	0.403													T	22129611	G	T	22129611	3	4	265	1	0	0	0	0	1	0	0	0	11819	942	33	5	1144	5	PHEX	23	22129611	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	33929	22129611	133140949	910	132199											
PTCHD1	139411	broad.mit.edu	37	chrX	23411237	23411237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagtaacattgtagcaacCgcgacacaaaccattgagta	7	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:23411237C>T	uc004dal.3	+	3	1610	c.1602C>T	c.(1600-1602)ACC>ACT	p.T534T		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	534					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						TTGTAGCAACCGCGACACAAA	0.403													T	23411237	C	T	23411237	2	4	265	1	0	0	0	0	0	0	0	1	12732	639	23	1		1	PTCHD1	23	23411237	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1281626	23411237	131859323	911	132200											
MED14	9282	broad.mit.edu	37	chrX	40542144	40542144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaacactaactctgctAcccaagtgcggttatttcta	6	11	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:40542144A>G	uc004dex.3	-	17	2302	c.2162T>C	c.(2161-2163)GTA>GCA	p.V721A		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	721	Interaction with SREBF1.				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(2)|kidney(1)|skin(1)	4						TAACTCTGCTACCCAAGTGCG	0.428													G	40542144	A	G	40542144	3	3	265	1	0	0	0	0	1	0	0	0	9432	391	14	3	2262	3	MED14	23	40542144	Missense_Mutation	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	17130907	40542144	114728416	912	132201											
NYX	60506	broad.mit.edu	37	chrX	41333037	41333037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccttcaagggcctgccgCgcctggctgagctgcgcctg	15	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:41333037C>T	uc004dfh.2	+	2	761	c.331C>T	c.(331-333)CGC>TGC	p.R111C	NYX_uc011mku.1_Missense_Mutation_p.R106C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	111	LRR 3.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						GGGCCTGCCGCGCCTGGCTGA	0.726													T	41333037	C	T	41333037	3	4	265	1	0	0	0	0	1	0	0	0	10797	768	27	1	337	1	NYX	23	41333037	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	790893	41333037	113937523	913	132202											
EFHC2	80258	broad.mit.edu	37	chrX	44035573	44035573	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagaagatcatcactcaaAggtaatctggaggatttgca	9	7	5	2			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:44035573A>C	uc004dgb.3	-	14	2097	c.2007T>G	c.(2005-2007)CCT>CCG	p.P669P		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	669							calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6						CATCACTCAAAGGTAATCTGG	0.363													C	44035573	A	C	44035573	2	2	265	1	0	0	0	0	0	0	0	1	4947	59	3	5		5	EFHC2	23	44035573	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	2702536	44035573	111234987	914	132203											
CXorf36	79742	broad.mit.edu	37	chrX	45051247	45051247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccaaggtgggaagccaGccagttgtcagatctgttgg	14	9	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:45051247G>A	uc004dgg.2	-	2	322	c.247C>T	c.(247-249)CTG>TTG	p.L83L	CXorf36_uc004dgi.3_Silent_p.L83L	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	83						extracellular region				lung(1)	1						TGGGAAGCCAGCCAGTTGTCA	0.517													A	45051247	G	A	45051247	2	1	265	1	0	0	0	0	0	0	0	1	4106	962	34	2		2	CXorf36	23	45051247	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1015674	45051247	110219313	915	132204											
HDAC6	10013	broad.mit.edu	37	chrX	48673431	48673431	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgctcatgggtctggcAggaggcaagctgatcctgtc	13	12	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:48673431A>G	uc011mmi.1	+	14	1217	c.1122A>G	c.(1120-1122)GCA>GCG	p.A374A	HDAC6_uc004dks.1_Silent_p.A374A|HDAC6_uc010nig.1_Silent_p.A222A|HDAC6_uc004dkt.1_Silent_p.A374A|HDAC6_uc011mmk.1_Silent_p.A355A|HDAC6_uc004dkv.1_5'UTR|HDAC6_uc004dkw.1_5'UTR	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	374	Histone deacetylase 1.				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			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	TGGGTCTGGCAGGAGGCAAGC	0.552													G	48673431	A	G	48673431	2	3	265	1	0	0	0	0	0	0	0	1	7011	175	7	3		3	HDAC6	23	48673431	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	3622184	48673431	106597129	916	132205											
KCND1	3750	broad.mit.edu	37	chrX	48826286	48826286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgatactcttcaaggcaGcagtcaccgactagctcggg	10	14	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:48826286G>A	uc004dlx.1	-	1	1966	c.393C>T	c.(391-393)TGC>TGT	p.C131C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	131	Cytoplasmic (Potential).	Zinc (By similarity).				voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						CTTCAAGGCAGCAGTCACCGA	0.647													A	48826286	G	A	48826286	2	1	265	1	0	0	0	0	0	0	0	1	8018	963	34	2		2	KCND1	23	48826286	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	152855	48826286	106444274	917	132206											
FOXP3	50943	broad.mit.edu	37	chrX	49107881	49107881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatccacggtccacacagCccccttctcgctctccaccc	4	23	3	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:49107881C>T	uc004dnf.3	-	12	1398	c.1210G>A	c.(1210-1212)GCT>ACT	p.A404T	FOXP3_uc011mnb.1_Missense_Mutation_p.A427T|FOXP3_uc011mnc.1_Missense_Mutation_p.A377T|FOXP3_uc004dne.3_Missense_Mutation_p.A369T|FOXP3_uc010niq.1_Missense_Mutation_p.A429T	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform a	404	Fork-head.				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					GTCCACACAGCCCCCTTCTCG	0.622													T	49107881	C	T	49107881	3	4	265	1	0	0	0	0	1	0	0	0	6028	739	26	2	89	2	FOXP3	23	49107881	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	281595	49107881	106162679	918	132207											
IQSEC2	23096	broad.mit.edu	37	chrX	53285127	53285127	+	Frame_Shift_Del	DEL	G	G	-													agggaaggcccactccagcaGgggggccccccatgtggctg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:53285127delG	uc004dsd.2	-	3	1055	c.854delC	c.(853-855)CCTfs	p.P285fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P80fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	275					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						CACTCCAGCAGGGGGGCCCCC	0.687													-	53285127	G	-	53285127	7	5	265	1	0	1	0	1	0	0	0	0	7818	1000	35	0	3664	0	IQSEC2	23	53285127	Frame_Shift_Del	DEL	G	TCGA-HU-A4G9-01A-11D-A24D-08	4177246	53285127	101985433	919	132208											
SMC1A	8243	broad.mit.edu	37	chrX	53410093	53410093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttgggggcggcaatacGctgaagcacactctgctgct	13	11	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:53410093G>A	uc004dsg.2	-	20	3124	c.3055C>T	c.(3055-3057)CGT>TGT	p.R1019C	SMC1A_uc011moe.1_Missense_Mutation_p.R997C	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1019	Potential.				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			ovary(5)|central_nervous_system(1)	6						GCGGCAATACGCTGAAGCACA	0.532													A	53410093	G	A	53410093	3	1	265	1	0	0	0	0	1	0	0	0	14781	1087	38	1	670	1	SMC1A	23	53410093	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	124966	53410093	101860467	920	132209											
ITIH5L	347365	broad.mit.edu	37	chrX	54776525	54776525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccagtcggatgtctgCgtgctggaactgccctgagg	14	11	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:54776525C>T	uc004dtj.2	-	13	3775	c.3745G>A	c.(3745-3747)GCA>ACA	p.A1249T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1249					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						CGGATGTCTGCGTGCTGGAAC	0.587													T	54776525	C	T	54776525	3	4	265	1	0	0	0	0	1	0	0	0	7908	768	27	1	200	1	ITIH5L	23	54776525	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1366432	54776525	100494035	921	132210											
UBQLN2	29978	broad.mit.edu	37	chrX	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-													aggacccactggccctgcagCcccccctggctccaccggct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642													-	56591874	C	-	56591874	7	5	265	1	0	1	0	1	0	0	0	0	16894	739	26	0	1570	0	UBQLN2	23	56591874	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	1815349	56591874	98678686	922	132211											
STARD8	9754	broad.mit.edu	37	chrX	67940212	67940212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcacgggccagccactgCcacagagcattcagcaagcc	11	16	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:67940212C>T	uc004dxa.2	+	7	2128	c.1756C>T	c.(1756-1758)CCA>TCA	p.P586S	STARD8_uc004dxb.2_Missense_Mutation_p.P666S|STARD8_uc004dxc.3_Missense_Mutation_p.P586S	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	586	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CCAGCCACTGCCACAGAGCAT	0.642													T	67940212	C	T	67940212	3	4	265	1	0	0	0	0	1	0	0	0	15262	739	26	2	2026	2	STARD8	23	67940212	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	11348338	67940212	87330348	923	132212											
DGAT2L6	347516	broad.mit.edu	37	chrX	69420151	69420151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacacaactacatcattgCcaatcacccccatggcattc	3	16	2	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:69420151C>T	uc004dxx.1	+	4	411	c.314C>T	c.(313-315)GCC>GTC	p.A105V		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	105	Helical; (Potential).				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)	1						TACATCATTGCCAATCACCCC	0.463													T	69420151	C	T	69420151	3	4	265	1	0	0	0	0	1	0	0	0	4459	739	26	2	328	2	DGAT2L6	23	69420151	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1479939	69420151	85850409	924	132213											
ABCB7	22	broad.mit.edu	37	chrX	74295434	74295434	+	Frame_Shift_Del	DEL	A	A	-													actgcatttcgaacttcgttAaaaaaagcagctccagctct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:74295434delA	uc004eca.2	-	6	643	c.618delT	c.(616-618)TTTfs	p.F206fs	ABCB7_uc004ebz.2_Frame_Shift_Del_p.F207fs|ABCB7_uc011mqn.1_Frame_Shift_Del_p.F180fs|ABCB7_uc010nls.2_Frame_Shift_Del_p.F167fs|ABCB7_uc010nlt.2_Frame_Shift_Del_p.F166fs	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	206	ABC transmembrane type-1.|Helical; (Potential).				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						GAACTTCGTTAAAAAAAGCAG	0.358													-	74295434	A	-	74295434	7	5	265	1	0	1	0	1	0	0	0	0	46	359	13	0	1684	0	ABCB7	23	74295434	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	4875283	74295434	80975126	925	132214											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177504	89177504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgcagagcaccgaggcGtctgtgccggccaagtcagg	14	14	2	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:89177504G>A	uc004efe.2	+	2	469	c.420G>A	c.(418-420)GCG>GCA	p.A140A		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GCACCGAGGCGTCTGTGCCGG	0.582													A	89177504	G	A	89177504	2	1	265	1	0	0	0	0	0	0	0	1	15824	1132	40	1		1	TGIF2LX	23	89177504	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	14882070	89177504	66093056	926	132215											
SYTL4	94121	broad.mit.edu	37	chrX	99936233	99936233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaactcactctttttccGgtcacctccaacaggggttt	7	12	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:99936233G>A	uc004egd.3	-	16	1905	c.1549C>T	c.(1549-1551)CGG>TGG	p.R517W	SYTL4_uc004egc.2_5'Flank|SYTL4_uc010nnb.2_Missense_Mutation_p.R189W|SYTL4_uc010nnc.2_Missense_Mutation_p.R517W|SYTL4_uc004ege.3_Missense_Mutation_p.R517W|SYTL4_uc004egf.3_Missense_Mutation_p.R517W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	517	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTTTTTCCGGTCACCTCCA	0.517													A	99936233	G	A	99936233	3	1	265	1	0	0	0	0	1	0	0	0	15482	1115	39	1	482	1	SYTL4	23	99936233	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	10758729	99936233	55334327	927	132216											
ARMCX1	51309	broad.mit.edu	37	chrX	100808097	100808097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggagctaaaactaacGctggggcagggtctggggcc	16	8	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:100808097G>A	uc004ehv.2	+	4	555	c.184G>A	c.(184-186)GCT>ACT	p.A62T	ARMCX1_uc004ehw.2_Missense_Mutation_p.A62T	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	62						integral to membrane	binding			ovary(3)|pancreas(1)	4						TAAAACTAACGCTGGGGCAGG	0.532													A	100808097	G	A	100808097	3	1	265	1	0	0	0	0	1	0	0	0	959	1087	38	1	186	1	ARMCX1	23	100808097	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	871864	100808097	54462463	928	132217											
BEX2	84707	broad.mit.edu	37	chrX	102564886	102564886	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagattgtttaacgctcGttcctctttggactccatta	8	9	1	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:102564886G>A	uc004ekb.2	-	3	258	c.19C>T	c.(19-21)CGA>TGA	p.R7*	BEX2_uc004eka.2_Nonsense_Mutation_p.R36*	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	7					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1						TTTAACGCTCGTTCCTCTTTG	0.468													A	102564886	G	A	102564886	4	1	265	1	0	0	0	0	0	1	0	0	1411	1153	40	1	371	1	BEX2	23	102564886	Nonsense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1756789	102564886	52705674	929	132218											
RNF128	79589	broad.mit.edu	37	chrX	106016247	106016247	+	Frame_Shift_Del	DEL	A	A	-													caatggtcatagaagtagggAaaaaacatggcccttgggtg							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:106016247delA	uc004eml.2	+	2	839	c.589delA	c.(589-591)AAAfs	p.K197fs	RNF128_uc004emk.2_Frame_Shift_Del_p.K171fs	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	197						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGAAGTAGGGAAAAAACATGG	0.368													-	106016247	A	-	106016247	7	5	265	1	0	1	0	1	0	0	0	0	13436	247	9	0	1005	0	RNF128	23	106016247	Frame_Shift_Del	DEL	A	TCGA-HU-A4G9-01A-11D-A24D-08	3451361	106016247	49254313	930	132219											
COL4A6	1288	broad.mit.edu	37	chrX	107406166	107406166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggtccccagtgaggCcagggatgccatcgatccct	12	16	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:107406166C>T	uc004enw.3	-	41	4278	c.4175G>A	c.(4174-4176)GGC>GAC	p.G1392D	COL4A6_uc004env.3_Missense_Mutation_p.G1391D|COL4A6_uc011msn.1_Missense_Mutation_p.G1367D|COL4A6_uc010npk.2_Missense_Mutation_p.G1334D|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_5'UTR	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1392	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CCCAGTGAGGCCAGGGATGCC	0.572									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107406166	C	T	107406166	3	4	265	1	0	0	0	0	1	0	0	0	3695	739	26	2	920	2	COL4A6	23	107406166	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	1389919	107406166	47864394	931	132220											
CHRDL1	91851	broad.mit.edu	37	chrX	109937511	109937511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgggacagacctccagCctgtcggcttggtggaggat	15	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:109937511C>T	uc004eou.3	-	8	1007	c.658G>A	c.(658-660)GCT>ACT	p.A220T	CHRDL1_uc004eov.2_Missense_Mutation_p.A214T|CHRDL1_uc004eow.2_Missense_Mutation_p.A219T|CHRDL1_uc010nps.2_Missense_Mutation_p.A219T|CHRDL1_uc004eot.2_Missense_Mutation_p.A140T|CHRDL1_uc011mss.1_Missense_Mutation_p.A134T	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	213					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						AGACCTCCAGCCTGTCGGCTT	0.478													T	109937511	C	T	109937511	3	4	265	1	0	0	0	0	1	0	0	0	3373	739	26	2	738	2	CHRDL1	23	109937511	Missense_Mutation	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	2531345	109937511	45333049	932	132221											
AMOT	154796	broad.mit.edu	37	chrX	112033859	112033859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcatccagagcaaaaTgtctcatcacattctcctcc	5	15	3	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:112033859T>G	uc004epr.2	-	7	2078	c.2078A>C	c.(2077-2079)CAT>CCT	p.H693P	AMOT_uc004eps.2_Missense_Mutation_p.H284P	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	693					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|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CAGAGCAAAATGTCTCATCAC	0.478													G	112033859	T	G	112033859	3	3	265	1	0	0	0	0	1	0	0	0	582	1464	51	5	1196	5	AMOT	23	112033859	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	2096348	112033859	43236701	933	132222											
DOCK11	139818	broad.mit.edu	37	chrX	117764371	117764371	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttctacaaggagtagtgtAtcccagtataaccgcctgga	10	9	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:117764371A>G	uc004eqp.2	+	35	3867	c.3804A>G	c.(3802-3804)GTA>GTG	p.V1268V	DOCK11_uc004eqq.2_Silent_p.V1047V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1268					blood coagulation	cytosol	GTP binding			ovary(3)	3						GGAGTAGTGTATCCCAGTATA	0.393													G	117764371	A	G	117764371	2	3	265	1	0	0	0	0	0	0	0	1	4686	436	16	3		3	DOCK11	23	117764371	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	5730512	117764371	37506189	934	132223											
UPF3B	65109	broad.mit.edu	37	chrX	118977168	118977168	+	Frame_Shift_Del	DEL	T	T	-													acttacctattaattctctaTtttttgcttctatttcctct							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:118977168delT	uc004erz.1	-	5	643	c.566delA	c.(565-567)AATfs	p.N189fs	UPF3B_uc004esa.1_Frame_Shift_Del_p.N189fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	189	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				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			ovary(2)|kidney(1)	3						TAATTCTCTATTTTTTGCTTC	0.299													-	118977168	T	-	118977168	7	5	265	1	0	1	0	1	0	0	0	0	17003	1493	52	0	913	0	UPF3B	23	118977168	Frame_Shift_Del	DEL	T	TCGA-HU-A4G9-01A-11D-A24D-08	1212797	118977168	36293392	935	132224											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga							TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	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						GGACGACAGATCCCCCCCAGG	0.607													-	129190011	C	-	129190011	7	5	265	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-HU-A4G9-01A-11D-A24D-08	10212843	129190011	26080549	936	132225											
SLC25A14	9016	broad.mit.edu	37	chrX	129505599	129505599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaaactggcttcggcTtggaccctggaacatcattg	11	11	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:129505599T>C	uc004evn.1	+	10	1130	c.917T>C	c.(916-918)CTT>CCT	p.L306P	SLC25A14_uc004evo.1_Missense_Mutation_p.L127P|SLC25A14_uc004evp.1_Missense_Mutation_p.L306P|SLC25A14_uc004evq.1_Missense_Mutation_p.L303P|SLC25A14_uc004evr.1_Missense_Mutation_p.L334P	NM_003951	NP_003942	O95258	UCP5_HUMAN	solute carrier family 25, member 14 isoform	306	Helical; Name=6; (Potential).|Solcar 3.				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			ovary(1)	1						TGGCTTCGGCTTGGACCCTGG	0.398													C	129505599	T	C	129505599	3	2	265	1	0	0	0	0	1	0	0	0	14476	1609	56	3	951	3	SLC25A14	23	129505599	Missense_Mutation	SNP	T	TCGA-HU-A4G9-01A-11D-A24D-08	315588	129505599	25764961	937	132226											
SAGE1	55511	broad.mit.edu	37	chrX	134995056	134995056	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcacatgagaaaaagataAttgtgttagtgcaaagacca	9	5	0	3			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:134995056A>G	uc004ezh.2	+	20	2882	c.2715A>G	c.(2713-2715)TAA>TAG	p.*905*	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.1_Silent_p.*529*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	905										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GAAAAAGATAATTGTGTTAGT	0.383													G	134995056	A	G	134995056	2	3	265	1	0	0	0	0	0	0	0	1	13809	108	4	3		3	SAGE1	23	134995056	Silent	SNP	A	TCGA-HU-A4G9-01A-11D-A24D-08	5489457	134995056	20275504	938	132227											
MAGEC1	9947	broad.mit.edu	37	chrX	140993808	140993810	+	In_Frame_Del	DEL	CTC	CTC	-													attcctgtgagccgctccttCtcctccactttattgagtat					rs140674361	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:140993807_140993809TCTC>T	uc004fbt.3	+	3	941_943	c.617_619TCTC>T	c.(616-621)ttctcc>tTcc	p.S208del	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	208							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)					AGCCGCTCCTTCTCCTCCACTTT	0.488										HNSCC(15;0.026)			-	140993810	CTC	-	140993808	7	5	265	1	0	1	0	1	0	0	0	0	9180	912	32	0	624	0	MAGEC1	23	140993808	In_Frame_Del	DEL	CTC	TCGA-HU-A4G9-01A-11D-A24D-08	5998752	140993808	14276752	939	132228											
CXorf40B	541578	broad.mit.edu	37	chrX	149102068	149102068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccagcataaggctgccGgaaggagaggcagccaaact	13	10	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:149102068G>A	uc004fdy.2	-	4	541	c.25C>T	c.(25-27)CGG>TGG	p.R9W	CXorf40B_uc011mxs.1_RNA	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	9											0	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGGCTGCCGGAAGGAGAGG	0.597													A	149102068	G	A	149102068	3	1	265	1	0	0	0	0	1	0	0	0	4109	1115	39	1	459	1	CXorf40B	23	149102068	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	8108260	149102068	6168492	940	132229											
VMA21	203547	broad.mit.edu	37	chrX	150573447	150573447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctattgttgcagtggtcGccgtccatgtggtgctggcc	14	11	0	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:150573447G>A	uc004feu.2	+	3	299	c.223G>A	c.(223-225)GCC>ACC	p.A75T		NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog	75	Helical; (Potential).				vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome					0						TGCAGTGGTCGCCGTCCATGT	0.458													A	150573447	G	A	150573447	3	1	265	1	0	0	0	0	1	0	0	0	17172	1087	38	1	233	1	VMA21	23	150573447	Missense_Mutation	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	1471379	150573447	4697113	941	132230											
HCFC1	3054	broad.mit.edu	37	chrX	153219914	153219914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggagcacaccctctgggcGctgcctgcattcgaggtagt	13	12	1	0			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:153219914G>A	uc004fjp.2	-	17	4464	c.3936C>T	c.(3934-3936)AGC>AGT	p.S1312S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1312					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCTGGGCGCTGCCTGCAT	0.672													A	153219914	G	A	153219914	2	1	265	1	0	0	0	0	0	0	0	1	6991	1078	38	1		1	HCFC1	23	153219914	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	2646467	153219914	2050646	942	132231											
FLNA	2316	broad.mit.edu	37	chrX	153594462	153594462	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgtgacgtgcacggtgtgGacgccctccatggtgggctg	16	11	0	1			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:153594462G>A	uc004fkk.2	-	9	1608	c.1359C>T	c.(1357-1359)GTC>GTT	p.V453V	FLNA_uc010nuu.1_Silent_p.V453V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	453	Filamin 2.				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)					GCACGGTGTGGACGCCCTCCA	0.667													A	153594462	G	A	153594462	2	1	265	1	0	0	0	0	0	0	0	1	5933	1161	41	4		4	FLNA	23	153594462	Silent	SNP	G	TCGA-HU-A4G9-01A-11D-A24D-08	374548	153594462	1676098	943	132232											
PLXNA3	55558	broad.mit.edu	37	chrX	153689684	153689684	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatacgtggaattccccatCggctgctcctggcgcggcgt	12	14	1	0	rs149751983		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:153689684C>T	uc004flm.2	+	3	1013	c.840C>T	c.(838-840)ATC>ATT	p.I280I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	280	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					AATTCCCCATCGGCTGCTCCT	0.637													T	153689684	C	T	153689684	2	4	265	1	0	0	0	0	0	0	0	1	12121	874	31	1		1	PLXNA3	23	153689684	Silent	SNP	C	TCGA-HU-A4G9-01A-11D-A24D-08	95222	153689684	1580876	944	132233											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920055	12920055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctctgtgttcctcagGctggaacacctccagttgct	8	14	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:12920055G>T	uc001aum.1	+	3	882	c.795G>T	c.(793-795)AGG>AGT	p.R265S		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	265											0	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)		TGTTCCTCAGGCTGGAACACC	0.453													T	12920055	G	T	12920055	3	4	266	1	0	0	0	0	1	0	0	0	12435	1194	42	5	801	5	PRAMEF2	1	12920055	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		12920055	236330566	1	132234											
GALE	2582	broad.mit.edu	37	chr1	24124220	24124220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcccggatcatttcctCgatgaagaacttggacttgc	10	11	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:24124220C>T	uc009vqo.1	-	5	703	c.493G>A	c.(493-495)GAG>AAG	p.E165K	GALE_uc001bhv.1_Missense_Mutation_p.E165K|GALE_uc001bhw.1_Missense_Mutation_p.E165K|GALE_uc001bhx.1_Missense_Mutation_p.E165K|GALE_uc009vqp.1_Missense_Mutation_p.E165K|GALE_uc001bhy.1_Missense_Mutation_p.E165K|GALE_uc001bhz.1_Missense_Mutation_p.E91K|GALE_uc001bia.2_5'Flank	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	165			E -> K (in EDG).		galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		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)		ATCATTTCCTCGATGAAGAAC	0.612													T	24124220	C	T	24124220	3	4	266	1	0	0	0	0	1	0	0	0	6202	893	31	1	581	1	GALE	1	24124220	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	11204165	24124220	225126401	2	132235											
ZNF643	65243	broad.mit.edu	37	chr1	40929058	40929058	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctttctatccatcagagaGtccatactggagtaaaacct	6	10	3	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:40929058G>C	uc001cfn.1	+	5	1699	c.1402G>C	c.(1402-1404)GTC>CTC	p.V468L	ZNF643_uc001cfl.1_Missense_Mutation_p.V366L|ZNF643_uc001cfm.1_Missense_Mutation_p.V334L	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	468	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	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;5.25e-18)			CCATCAGAGAGTCCATACTGG	0.388													C	40929058	G	C	40929058	3	2	266	1	0	0	0	0	1	0	0	0	18056	1029	36	5	1420	5	ZNF643	1	40929058	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	16804838	40929058	208321563	3	132236											
IPO13	9670	broad.mit.edu	37	chr1	44424237	44424237	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcgcttatctcaccctatatCcagcaactggagaagctggc	8	13	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:44424237C>A	uc001ckx.2	+	10	2649	c.1854C>A	c.(1852-1854)ATC>ATA	p.I618I		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	618	HEAT 10.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACCCTATATCCAGCAACTGG	0.572													A	44424237	C	A	44424237	2	1	266	1	0	0	0	0	0	0	0	1	7794	845	30	5		5	IPO13	1	44424237	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	3495179	44424237	204826384	4	132237											
RPE65	6121	broad.mit.edu	37	chr1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgttgtaggcaattgaaaaAttttttccaaagcaattacc	6	6	0	1	rs141527042		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:68906582A>T	uc001dei.1	-	6	651	c.597T>A	c.(595-597)AAT>AAA	p.N199K		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	199					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1						CAATTGAAAAATTTTTTCCAA	0.388													T	68906582	A	T	68906582	3	4	266	1	0	0	0	0	1	0	0	0	13545	98	4	5	1040	5	RPE65	1	68906582	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	24482345	68906582	180344039	5	132238											
HRNR	388697	broad.mit.edu	37	chr1	152192118	152192118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcggacccatgtcggcCgcgactaggagactggccag	13	12	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:152192118C>T	uc001ezt.1	-	3	2063	c.1987G>A	c.(1987-1989)GGC>AGC	p.G663S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	663	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTCGGCCGCGACTAGGA	0.592													T	152192118	C	T	152192118	3	4	266	1	0	0	0	0	1	0	0	0	7359	652	23	1	6569	1	HRNR	1	152192118	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	83285536	152192118	97058503	6	132239											
SPRR1A	6698	broad.mit.edu	37	chr1	152957856	152957856	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcctgagccctgccaCcccaaagtgcctgagccctg	11	16	0	2	rs143282605	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:152957856C>G	uc009wnu.1	+	2	228	c.150C>G	c.(148-150)CAC>CAG	p.H50Q	SPRR1A_uc001faw.2_Missense_Mutation_p.H50Q	NM_005987	NP_005978	P35321	SPR1A_HUMAN	small proline-rich protein 1A	50	6 X 8 AA approximate tandem repeats.|3.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity				0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCCACCCCAAAGTGC	0.647													G	152957856	C	G	152957856	3	3	266	1	0	0	0	0	1	0	0	0	15094	506	18	5	152	5	SPRR1A	1	152957856	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	765738	152957856	96292765	7	132240											
CD1A	909	broad.mit.edu	37	chr1	158227221	158227221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattcacagagcatcacagTtccgtgggcttcatcatctt	7	11	5	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:158227221T>C	uc001frt.2	+	5	1427	c.894T>C	c.(892-894)AGT>AGC	p.S298S		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	298	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGCATCACAGTTCCGTGGGCT	0.463													C	158227221	T	C	158227221	2	2	266	1	0	0	0	0	0	0	0	1	2974	1722	60	3		3	CD1A	1	158227221	Silent	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	5269365	158227221	91023400	8	132241											
SPTA1	6708	broad.mit.edu	37	chr1	158585162	158585162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaatcttggttagttgaCgcttcatcgcctggatctcc	8	13	3	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:158585162C>T	uc001fst.1	-	48	6831	c.6632G>A	c.(6631-6633)CGT>CAT	p.R2211H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2211	Spectrin 21.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GGTTAGTTGACGCTTCATCGC	0.483													T	158585162	C	T	158585162	3	4	266	1	0	0	0	0	1	0	0	0	15115	536	19	1	647	1	SPTA1	1	158585162	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	357941	158585162	90665459	9	132242											
TTC13	79573	broad.mit.edu	37	chr1	231044732	231044732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttcttttccacttgccaTcagtgctcccacgatgaccg	6	15	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr1:231044732T>C	uc001huf.3	-	21	2375	c.2344A>G	c.(2344-2346)ATG>GTG	p.M782V	TTC13_uc009xfi.2_Missense_Mutation_p.M729V|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.M728V|TTC13_uc009xfk.1_Missense_Mutation_p.M671V	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	782							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCACTTGCCATCAGTGCTCCC	0.408													C	231044732	T	C	231044732	3	2	266	1	0	0	0	0	1	0	0	0	16677	1435	50	3	250	3	TTC13	1	231044732	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	72459570	231044732	18205889	10	132243											
NRXN1	9378	broad.mit.edu	37	chr2	51254932	51254932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccgcggcgcgcagttcCgggggcagccccccgacgaa	16	17	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:51254932C>T	uc010fbq.2	-	2	1957	c.480G>A	c.(478-480)CCG>CCA	p.P160P	NRXN1_uc002rxe.3_Silent_p.P160P|NRXN1_uc002rxd.1_Silent_p.P160P	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCGCAGTTCCGGGGGCAGCC	0.667													T	51254932	C	T	51254932	2	4	266	1	0	0	0	0	0	0	0	1	10665	639	23	1		1	NRXN1	2	51254932	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		51254932	191944441	11	132244											
PCYOX1	51449	broad.mit.edu	37	chr2	70486655	70486655	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcaggaggttctgtcatCcatcctttaaatctgcacat	9	10	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:70486655C>T	uc002sgn.3	+	2	342	c.276C>T	c.(274-276)ATC>ATT	p.I92I	PCYOX1_uc010fdo.2_Silent_p.I15I|PCYOX1_uc010yqu.1_Intron	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	92					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						GTTCTGTCATCCATCCTTTAA	0.473													T	70486655	C	T	70486655	2	4	266	1	0	0	0	0	0	0	0	1	11608	845	30	4		4	PCYOX1	2	70486655	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	19231723	70486655	172712718	12	132245											
CCT7	10574	broad.mit.edu	37	chr2	73475031	73475031	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagctgagaaagacaatgctGagataagagtccacacagtt	10	7	0	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:73475031G>A	uc002siz.2	+	7	862	c.760G>A	c.(760-762)GAG>AAG	p.E254K	CCT7_uc002sja.2_Missense_Mutation_p.E50K|CCT7_uc010yrf.1_Missense_Mutation_p.E210K|CCT7_uc010feu.2_Missense_Mutation_p.E212K|CCT7_uc010yrg.1_Missense_Mutation_p.E154K|CCT7_uc010yrh.1_Missense_Mutation_p.E126K|CCT7_uc010yri.1_Missense_Mutation_p.E167K	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	254					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						AGACAATGCTGAGATAAGAGT	0.493													A	73475031	G	A	73475031	3	1	266	1	0	0	0	0	1	0	0	0	2959	1291	45	4	786	4	CCT7	2	73475031	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	2988376	73475031	169724342	13	132246											
SEMA4F	10505	broad.mit.edu	37	chr2	74883792	74883792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctttatccctgcccttcTcaggggagagaccccgcagg	11	15	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:74883792T>C	uc002sna.1	+	2	388	c.277T>C	c.(277-279)TCA>CCA	p.S93P	SEMA4F_uc010ysb.1_Missense_Mutation_p.S93P|SEMA4F_uc010ffq.1_Missense_Mutation_p.S93P|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.S93P	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	93	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CCTGCCCTTCTCAGGGGAGAG	0.522													C	74883792	T	C	74883792	3	2	266	1	0	0	0	0	1	0	0	0	14035	1551	54	3	283	3	SEMA4F	2	74883792	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	1408761	74883792	168315581	14	132247											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521689	125521689	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagttttcctagaaaatcTtggcattaaagacttcattc	7	8	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:125521689T>G	uc002tno.2	+	16	2859	c.2495T>G	c.(2494-2496)CTT>CGT	p.L832R	CNTNAP5_uc010flu.2_Missense_Mutation_p.L833R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	832	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTAGAAAATCTTGGCATTAAA	0.343													G	125521689	T	G	125521689	3	3	266	1	0	0	0	0	1	0	0	0	3650	1609	56	5	2557	5	CNTNAP5	2	125521689	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	50637897	125521689	117677684	15	132248											
LRP1B	53353	broad.mit.edu	37	chr2	141598508	141598508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgactgggtgagctgcaAgacactgtggcttatcgatt	12	10	0	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:141598508A>C	uc002tvj.1	-	30	6065	c.5093T>G	c.(5092-5094)CTT>CGT	p.L1698R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1698	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GTGAGCTGCAAGACACTGTGG	0.353										TSP Lung(27;0.18)			C	141598508	A	C	141598508	3	2	266	1	0	0	0	0	1	0	0	0	8955	72	3	5	8954	5	LRP1B	2	141598508	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	16076819	141598508	101600865	16	132249											
RIF1	55183	broad.mit.edu	37	chr2	152300221	152300221	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cattaactgaattgattaatCaggtatgaaataaatctgct	6	5	2	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:152300221C>T	uc002txm.2	+	18	2114	c.1984C>T	c.(1984-1986)CAG>TAG	p.Q662*	RIF1_uc002txl.2_Nonsense_Mutation_p.Q662*|RIF1_uc010fnv.1_Nonsense_Mutation_p.Q626*|RIF1_uc002txn.2_Nonsense_Mutation_p.Q662*|RIF1_uc002txo.2_Nonsense_Mutation_p.Q662*	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	662					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGATTAATCAGGTATGAAA	0.303													T	152300221	C	T	152300221	4	4	266	1	0	0	0	0	0	1	0	0	13359	827	29	4	2050	4	RIF1	2	152300221	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	10701713	152300221	90899152	17	132250											
TTN	7273	broad.mit.edu	37	chr2	179416514	179416514	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgtattaactttttgCcagaggatgctatttctttc	9	6	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:179416514C>T	uc010zfg.1	-	284	83633	c.83409G>A	c.(83407-83409)TGG>TGA	p.W27803*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W21498*|TTN_uc010zfi.1_Nonsense_Mutation_p.W21431*|TTN_uc010zfj.1_Nonsense_Mutation_p.W21306*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28730							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTTTTTGCCAGAGGATGC	0.403													T	179416514	C	T	179416514	4	4	266	1	0	0	0	0	0	1	0	0	16732	740	26	2	16978	2	TTN	2	179416514	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	27116293	179416514	63782859	18	132251											
TTN	7273	broad.mit.edu	37	chr2	179444697	179444697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcatcacgagtttcaccGggatcaccaatgccatactc	7	14	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:179444697G>A	uc010zfg.1	-	267	59837	c.59613C>T	c.(59611-59613)CCC>CCT	p.P19871P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P13566P|TTN_uc010zfi.1_Silent_p.P13499P|TTN_uc010zfj.1_Silent_p.P13374P|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20798							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTTTCACCGGGATCACCAA	0.428													A	179444697	G	A	179444697	2	1	266	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179444697	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	28183	179444697	63754676	19	132252											
TTN	7273	broad.mit.edu	37	chr2	179581872	179581872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttccagcgatgttgcttGcatagcaggtgtactgcccg	11	11	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:179581872G>A	uc010zfg.1	-	85	22081	c.21857C>T	c.(21856-21858)GCA>GTA	p.A7286V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3947V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8213							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTTGCTTGCATAGCAGGT	0.463													A	179581872	G	A	179581872	3	1	266	1	0	0	0	0	1	0	0	0	16732	1319	46	2	79040	2	TTN	2	179581872	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	137175	179581872	63617501	20	132253											
ANKRD44	91526	broad.mit.edu	37	chr2	197990134	197990134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagtgcagagcacgcCggtccttcttgtcaaatgca	10	14	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:197990134C>T	uc002uuc.2	-	6	688	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	ANKRD44_uc002utz.3_5'Flank|ANKRD44_uc002uua.1_Missense_Mutation_p.R149Q|ANKRD44_uc002uub.2_Missense_Mutation_p.R174Q|ANKRD44_uc010zgw.1_Missense_Mutation_p.R102Q	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	174	ANK 6.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGAGCACGCCGGTCCTTCTT	0.418													T	197990134	C	T	197990134	3	4	266	1	0	0	0	0	1	0	0	0	672	652	23	1	2397	1	ANKRD44	2	197990134	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	18408262	197990134	45209239	21	132254											
TRAK2	66008	broad.mit.edu	37	chr2	202264123	202264123	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaggcttgtcccaattGctcctccagggattcgttct	8	12	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:202264123G>C	uc002uyb.3	-	5	903	c.457C>G	c.(457-459)CAA>GAA	p.Q153E	TRAK2_uc002uyc.2_Missense_Mutation_p.Q153E	NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	153	Potential.					early endosome|plasma membrane	GABA receptor binding				0						TGTCCCAATTGCTCCTCCAGG	0.413													C	202264123	G	C	202264123	3	2	266	1	0	0	0	0	1	0	0	0	16447	1328	46	5	2335	5	TRAK2	2	202264123	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	4273989	202264123	40935250	22	132255											
MAP2	4133	broad.mit.edu	37	chr2	210561031	210561031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgagaccaccattgaCgactccatcatggacgctga	9	11	1	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:210561031C>T	uc002vde.1	+	7	4385	c.4137C>T	c.(4135-4137)GAC>GAT	p.D1379D	MAP2_uc002vdc.1_Silent_p.D1379D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.D1375D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1379					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CCACCATTGACGACTCCATCA	0.423													T	210561031	C	T	210561031	2	4	266	1	0	0	0	0	0	0	0	1	9235	535	19	1		1	MAP2	2	210561031	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	8296908	210561031	32638342	23	132256											
ABCA12	26154	broad.mit.edu	37	chr2	215843537	215843537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtatacctcctccacGgtggtatctgaaatgccgta	10	10	1	2	rs138215759		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:215843537G>A	uc002vew.2	-	32	5188	c.4968C>T	c.(4966-4968)ACC>ACT	p.T1656T	ABCA12_uc002vev.2_Silent_p.T1338T|ABCA12_uc010zjn.1_Silent_p.T583T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1656					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		CCTCCTCCACGGTGGTATCTG	0.433													A	215843537	G	A	215843537	2	1	266	1	0	0	0	0	0	0	0	1	30	1103	39	1		1	ABCA12	2	215843537	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	5282506	215843537	27355836	24	132257											
ESPNL	339768	broad.mit.edu	37	chr2	239038920	239038920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctgcagcttcggcgccGctgtcaggagtatgagagtg	15	10	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:239038920G>A	uc002vxq.3	+	9	1675	c.1565G>A	c.(1564-1566)CGC>CAC	p.R522H	ESPNL_uc010fyw.2_Missense_Mutation_p.R218H	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	522	Potential.									pancreas(1)	1		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)		CTTCGGCGCCGCTGTCAGGAG	0.632													A	239038920	G	A	239038920	3	1	266	1	0	0	0	0	1	0	0	0	5255	1087	38	1	1599	1	ESPNL	2	239038920	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	23195383	239038920	4160453	25	132258											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239237701	239237702	+	Frame_Shift_Del	DEL	AC	AC	-													aaggagaatggcggaaacagAcacagagaaggggagagaga							TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr2:239237701_239237702delAC	uc002vye.2	+	5	752_753	c.633_634delAC	c.(631-636)AGACACfs	p.R211fs	TRAF3IP1_uc002vyf.2_Frame_Shift_Del_p.R211fs	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	211_212	Abolishes microtubules-binding when missing.|Arg-rich.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		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)		gcggaaacagacacagagaagg	0													-	239237702	AC	-	239237701	7	5	266	1	0	1	0	1	0	0	0	0	16437	272	10	0	651	0	TRAF3IP1	2	239237701	Frame_Shift_Del	DEL	AC	TCGA-HU-A4GC-01A-12D-A25D-08	198781	239237701	3961672	26	132259											
SRGAP3	9901	broad.mit.edu	37	chr3	9166433	9166433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtgctcccgggagctgCggattttggaggagaagcgc	17	9	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:9166433C>T	uc003brf.1	-	2	912	c.236G>A	c.(235-237)CGC>CAC	p.R79H	SRGAP3_uc003brg.1_Missense_Mutation_p.R79H|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Missense_Mutation_p.R79H	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	79	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGGAGCTGCGGATTTTGGA	0.572			T	RAF1	pilocytic astrocytoma								T	9166433	C	T	9166433	3	4	266	1	0	0	0	0	1	0	0	0	15146	768	27	1	3182	1	SRGAP3	3	9166433	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		9166433	188855997	27	132260											
KAT2B	8850	broad.mit.edu	37	chr3	20167554	20167554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacagaacgttttctcccAccagctgccccgaatgccaa	6	17	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:20167554A>G	uc003cbq.2	+	10	2017	c.1571A>G	c.(1570-1572)CAC>CGC	p.H524R		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	524	N-acetyltransferase.				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTTCTCCCACCAGCTGCCC	0.448													G	20167554	A	G	20167554	3	3	266	1	0	0	0	0	1	0	0	0	7982	159	6	3	1609	3	KAT2B	3	20167554	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	11001121	20167554	177854876	28	132261											
STAB1	23166	broad.mit.edu	37	chr3	52548194	52548194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatctttgtgcccaccaacCgctccctggaggcccagggc	10	18	1	0	rs139838594	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:52548194C>A	uc003dej.2	+	33	3585	c.3511C>A	c.(3511-3513)CGC>AGC	p.R1171S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1171	FAS1 4.|Extracellular (Potential).				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		GCCCACCAACCGCTCCCTGGA	0.627													A	52548194	C	A	52548194	3	1	266	1	0	0	0	0	1	0	0	0	15236	652	23	5	3641	5	STAB1	3	52548194	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	32380640	52548194	145474236	29	132262											
OR5K1	26339	broad.mit.edu	37	chr3	98189089	98189089	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttatctctatattcttctTactattttcaaaatgaaatc	1	8	5	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:98189089T>C	uc003dsm.2	+	1	669	c.669T>C	c.(667-669)CTT>CTC	p.L223L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						ATATTCTTCTTACTATTTTCA	0.338													C	98189089	T	C	98189089	2	2	266	1	0	0	0	0	0	0	0	1	11166	1741	61	3		3	OR5K1	3	98189089	Silent	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	45640895	98189089	99833341	30	132263											
DCBLD2	131566	broad.mit.edu	37	chr3	98541094	98541094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagatgtgacgttgttagCcaaagaactttcataatagg	9	7	1	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:98541094C>T	uc003dtd.2	-	6	1171	c.808G>A	c.(808-810)GCT>ACT	p.A270T	DCBLD2_uc003dte.2_Missense_Mutation_p.A270T	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	270	Extracellular (Potential).|LCCL.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						ACGTTGTTAGCCAAAGAACTT	0.393													T	98541094	C	T	98541094	3	4	266	1	0	0	0	0	1	0	0	0	4281	739	26	2	1563	2	DCBLD2	3	98541094	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	352005	98541094	99481336	31	132264											
BBX	56987	broad.mit.edu	37	chr3	107492466	107492466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcatgctcacctctctgcGagctaatgttgacagaggta	12	10	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:107492466G>A	uc010hpr.2	+	11	2225	c.1898G>A	c.(1897-1899)CGA>CAA	p.R633Q	BBX_uc003dwk.3_Missense_Mutation_p.R633Q|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.R654Q|BBX_uc003dwm.3_Missense_Mutation_p.R633Q|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCTCTCTGCGAGCTAATGTT	0.403													A	107492466	G	A	107492466	3	1	266	1	0	0	0	0	1	0	0	0	1343	1058	37	1	1928	1	BBX	3	107492466	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	8951372	107492466	90529964	32	132265											
MYH15	22989	broad.mit.edu	37	chr3	108117566	108117566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgctctgtctgctctTgcagggaccttagatcctct	10	14	4	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:108117566T>C	uc003dxa.1	-	36	5168	c.5111A>G	c.(5110-5112)CAA>CGA	p.Q1704R		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1704	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TGTCTGCTCTTGCAGGGACCT	0.522													C	108117566	T	C	108117566	3	2	266	1	0	0	0	0	1	0	0	0	10034	1812	63	3	757	3	MYH15	3	108117566	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	625100	108117566	89904864	33	132266											
STXBP5L	9515	broad.mit.edu	37	chr3	120673881	120673881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgagaacaggtgctatacGaatgtatccttaaattttgg	10	6	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:120673881G>A	uc003eec.3	+	3	424	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	STXBP5L_uc011bji.1_Missense_Mutation_p.R95Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95	WD 1.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GGTGCTATACGAATGTATCCT	0.358													A	120673881	G	A	120673881	3	1	266	1	0	0	0	0	1	0	0	0	15356	1058	37	1	290	1	STXBP5L	3	120673881	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	12556315	120673881	77348549	34	132267											
IGSF10	285313	broad.mit.edu	37	chr3	151164474	151164474	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagttgtagactcttctgAtgggactctagcaatgtcag	11	7	4	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:151164474A>G	uc011bod.1	-	4	3295	c.3295T>C	c.(3295-3297)TCA>CCA	p.S1099P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1099					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACTCTTCTGATGGGACTCTA	0.463													G	151164474	A	G	151164474	3	3	266	1	0	0	0	0	1	0	0	0	7597	333	12	3	4636	3	IGSF10	3	151164474	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	30490593	151164474	46857956	35	132268											
GMPS	8833	broad.mit.edu	37	chr3	155640046	155640046	+	Frame_Shift_Del	DEL	C	C	-													aaggactttcctgaaaccaaCaatattttgaaaatagtagc							TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:155640046delC	uc003faq.2	+	11	1724	c.1389delC	c.(1387-1389)AACfs	p.N463fs	GMPS_uc011bom.1_Frame_Shift_Del_p.N364fs	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	463					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGAAACCAACAATATTTTGA	0.299			T	MLL	AML								-	155640046	C	-	155640046	7	5	266	1	0	1	0	1	0	0	0	0	6498	477	17	0	1431	0	GMPS	3	155640046	Frame_Shift_Del	DEL	C	TCGA-HU-A4GC-01A-12D-A25D-08	4475572	155640046	42382384	36	132269											
CHRD	8646	broad.mit.edu	37	chr3	184102983	184102983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttgggcctcctggaaCgccagggcctcggcggctgc	14	17	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:184102983C>T	uc003fov.2	+	14	2021	c.1775C>T	c.(1774-1776)ACG>ATG	p.T592M	CHRD_uc003fow.2_Missense_Mutation_p.T222M|CHRD_uc003fox.2_Missense_Mutation_p.T592M|CHRD_uc003foy.2_Missense_Mutation_p.T222M|CHRD_uc010hyc.2_Missense_Mutation_p.T182M|CHRD_uc011brr.1_Missense_Mutation_p.T222M	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	592	CHRD 4.				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			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCCTGGAACGCCAGGGCCT	0.562													T	184102983	C	T	184102983	3	4	266	1	0	0	0	0	1	0	0	0	3372	536	19	1	1829	1	CHRD	3	184102983	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	28462937	184102983	13919447	37	132270											
MUC4	4585	broad.mit.edu	37	chr3	195479288	195479288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattttcctcttcactgaGcaagagctggatgactctta	9	10	3	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr3:195479288G>A	uc011bto.1	-	22	15614	c.15154C>T	c.(15154-15156)CTC>TTC	p.L5052F	MUC4_uc010hzq.2_Missense_Mutation_p.L37F|MUC4_uc003fuz.2_Missense_Mutation_p.L778F|MUC4_uc003fva.2_Missense_Mutation_p.L660F|MUC4_uc003fvb.2_Missense_Mutation_p.L696F|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.L696F|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.L660F|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.L744F|MUC4_uc011bti.1_Missense_Mutation_p.L744F|MUC4_uc011btj.1_Missense_Mutation_p.L921F|MUC4_uc011btk.1_Missense_Mutation_p.L660F|MUC4_uc011btl.1_Missense_Mutation_p.L689F|MUC4_uc011btm.1_Missense_Mutation_p.L869F|MUC4_uc011btn.1_Missense_Mutation_p.L660F|MUC4_uc003fvo.2_Missense_Mutation_p.L944F|MUC4_uc003fvp.2_Missense_Mutation_p.L893F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1937					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		TCTTCACTGAGCAAGAGCTGG	0.567													A	195479288	G	A	195479288	3	1	266	1	0	0	0	0	1	0	0	0	9978	971	34	2	720	2	MUC4	3	195479288	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	11376305	195479288	2543142	38	132271											
ACOX3	8310	broad.mit.edu	37	chr4	8398823	8398823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacaggctccccagggaCgctccaaagcgctgcctgac	13	15	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:8398823C>T	uc010idk.2	-	9	1042	c.897G>A	c.(895-897)GCG>GCA	p.A299A	ACOX3_uc003glc.3_Silent_p.A299A|ACOX3_uc003gld.3_Silent_p.A299A|ACOX3_uc003gle.1_Silent_p.A204A	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	299					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			central_nervous_system(1)	1						TCCCCAGGGACGCTCCAAAGC	0.642													T	8398823	C	T	8398823	2	4	266	1	0	0	0	0	0	0	0	1	160	523	19	1		1	ACOX3	4	8398823	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		8398823	182755453	39	132272											
EPHA5	2044	broad.mit.edu	37	chr4	66286260	66286260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaattttccctttttTcacattggtgactggagatg	8	7	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:66286260T>C	uc003hcy.2	-	6	1619	c.1426A>G	c.(1426-1428)AAA>GAA	p.K476E	EPHA5_uc003hcx.2_Missense_Mutation_p.K407E|EPHA5_uc003hcz.2_Missense_Mutation_p.K476E|EPHA5_uc011cah.1_Missense_Mutation_p.K476E|EPHA5_uc011cai.1_Missense_Mutation_p.K476E|EPHA5_uc003hda.2_Missense_Mutation_p.K476E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	476	Extracellular (Potential).|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			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTCCCTTTTTTCACATTGGTG	0.343										TSP Lung(17;0.13)			C	66286260	T	C	66286260	3	2	266	1	0	0	0	0	1	0	0	0	5170	1792	62	3	1739	3	EPHA5	4	66286260	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	57887437	66286260	124868016	40	132273											
FAT4	79633	broad.mit.edu	37	chr4	126355435	126355435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaactggaacaatcaacGtcatagtagatgatgtcaat	9	7	3	2	rs147151922	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:126355435G>A	uc003ifj.3	+	7	7054	c.7054G>A	c.(7054-7056)GTC>ATC	p.V2352I	FAT4_uc011cgp.1_Missense_Mutation_p.V650I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2352	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AACAATCAACGTCATAGTAGA	0.343													A	126355435	G	A	126355435	3	1	266	1	0	0	0	0	1	0	0	0	5692	1145	40	1	7080	1	FAT4	4	126355435	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	60069175	126355435	64798841	41	132274											
PCDH10	57575	broad.mit.edu	37	chr4	134071538	134071538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgagaaaatagaccgCgaacaaatctgcaaacagag	10	8	1	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr4:134071538C>T	uc003iha.2	+	1	1069	c.243C>T	c.(241-243)CGC>CGT	p.R81R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R81R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	81	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AAATAGACCGCGAACAAATCT	0.562													T	134071538	C	T	134071538	2	4	266	1	0	0	0	0	0	0	0	1	11507	755	27	1		1	PCDH10	4	134071538	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	7716103	134071538	57082738	42	132275											
DNAH5	1767	broad.mit.edu	37	chr5	13829731	13829731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccttatgataatctgaCggtcaggcaccatcatggcc	8	13	4	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:13829731C>T	uc003jfd.2	-	38	6374	c.6332G>A	c.(6331-6333)CGT>CAT	p.R2111H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2111	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GATAATCTGACGGTCAGGCAC	0.463									Kartagener_syndrome				T	13829731	C	T	13829731	3	4	266	1	0	0	0	0	1	0	0	0	4604	536	19	1	7710	1	DNAH5	5	13829731	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		13829731	167085529	43	132276											
CDH12	1010	broad.mit.edu	37	chr5	21765106	21765106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctggcttggcatttTcacacacggctgtctcatat	8	13	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:21765106T>C	uc010iuc.2	-	9	1954	c.1496A>G	c.(1495-1497)GAA>GGA	p.E499G	CDH12_uc011cno.1_Missense_Mutation_p.E459G|CDH12_uc003jgk.2_Missense_Mutation_p.E499G|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	499	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CTTGGCATTTTCACACACGGC	0.358										HNSCC(59;0.17)			C	21765106	T	C	21765106	3	2	266	1	0	0	0	0	1	0	0	0	3098	1783	62	3	904	3	CDH12	5	21765106	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	7935375	21765106	159150154	44	132277											
PCDHA8	56140	broad.mit.edu	37	chr5	140222280	140222280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccggcgttcgcgcagccCgagtacacggtgttcgtgaa	14	13	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:140222280C>T	uc003lhs.2	+	1	1374	c.1374C>T	c.(1372-1374)CCC>CCT	p.P458P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P458P	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	458	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGCCCGAGTACACGG	0.672													T	140222280	C	T	140222280	2	4	266	1	0	0	0	0	0	0	0	1	11530	639	23	1		1	PCDHA8	5	140222280	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	118457174	140222280	40692980	45	132278											
PCDHB16	57717	broad.mit.edu	37	chr5	140564268	140564268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgttcgtggcggtgCggctgtgcaggaggagcagg	19	9	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:140564268C>T	uc003liv.2	+	1	3289	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	712	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGCAG	0.682													T	140564268	C	T	140564268	3	4	266	1	0	0	0	0	1	0	0	0	11541	759	27	1	2136	1	PCDHB16	5	140564268	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	341988	140564268	40350992	46	132279											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812194	140812194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcggtgggtctgcacaCgggcgaggtgcgcacggcgc	17	13	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:140812194C>T	uc003lkt.1	+	1	2037	c.1868C>T	c.(1867-1869)ACG>ATG	p.T623M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T623M	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTGCACACGGGCGAGGTG	0.692													T	140812194	C	T	140812194	3	4	266	1	0	0	0	0	1	0	0	0	11553	536	19	1	1870	1	PCDHGA12	5	140812194	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	247926	140812194	40103066	47	132280											
ATP10B	23120	broad.mit.edu	37	chr5	159992888	159992888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcccacaagttccttGcagagacaggaaaaagtatc	8	10	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr5:159992888G>A	uc003lym.1	-	26	4805	c.3958C>T	c.(3958-3960)CAA>TAA	p.Q1320*	ATP10B_uc010jit.1_Nonsense_Mutation_p.Q570*	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1320	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			CAAGTTCCTTGCAGAGACAGG	0.383													A	159992888	G	A	159992888	4	1	266	1	0	0	0	0	0	1	0	0	1117	1328	46	2	431	2	ATP10B	5	159992888	Nonsense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	19180694	159992888	20922372	48	132281											
NKAPL	222698	broad.mit.edu	37	chr6	28227351	28227351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgctctttacccctttagtCgctctgggtcgcgagggcgg	14	13	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:28227351C>T	uc003nkt.2	+	1	254	c.202C>T	c.(202-204)CGC>TGC	p.R68C	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	68										upper_aerodigestive_tract(1)|ovary(1)	2						CCCCTTTAGTCGCTCTGGGTC	0.612													T	28227351	C	T	28227351	3	4	266	1	0	0	0	0	1	0	0	0	10440	884	31	1	204	1	NKAPL	6	28227351	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		28227351	142887716	49	132282											
HTR1E	3354	broad.mit.edu	37	chr6	87725622	87725622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttactccacgctgggtgcGttttatatccccttgacttt	7	11	0	1	rs140545385	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:87725622G>A	uc003pli.2	+	2	1273	c.570G>A	c.(568-570)GCG>GCA	p.A190A		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	190	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		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)	CGCTGGGTGCGTTTTATATCC	0.512													A	87725622	G	A	87725622	2	1	266	1	0	0	0	0	0	0	0	1	7439	1132	40	1		1	HTR1E	6	87725622	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	59498271	87725622	83389445	50	132283											
REV3L	5980	broad.mit.edu	37	chr6	111688796	111688797	+	Frame_Shift_Ins	INS	-	-	A													tatcaacatcctccttggtaINStgtgctgtagtggggagtat							TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:111688795_111688796T>TA	uc003puy.4	-	13	6536_6537	c.6195_6196A>TA	c.(6193-6198)cataccfs	p.H2065fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.H1987fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.H1987fs|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2065					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)		TCCTCCTTGGTATGTGCTGTAG	0.446								DNA polymerases (catalytic subunits)					A	111688797	-	A	111688796	7	5	266	1	0	1	1	0	0	0	0	0	13240	446	16	0	3273	0	REV3L	6	111688796	Frame_Shift_Ins	INS	-	TCGA-HU-A4GC-01A-12D-A25D-08	23963174	111688796	59426271	51	132284											
ECHDC1	55862	broad.mit.edu	37	chr6	127648195	127648195	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcagatcagatcctgaagaGaaagtattttttgccccacg	8	9	2	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:127648195G>C	uc003qax.2	-	3	369	c.333C>G	c.(331-333)TTC>TTG	p.F111L	ECHDC1_uc003qaz.3_Missense_Mutation_p.F105L|ECHDC1_uc010key.2_Missense_Mutation_p.F30L|ECHDC1_uc003qay.3_Missense_Mutation_p.F105L|ECHDC1_uc010kez.2_Missense_Mutation_p.F30L|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	111							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		ATCCTGAAGAGAAAGTATTTT	0.383													C	127648195	G	C	127648195	3	2	266	1	0	0	0	0	1	0	0	0	4893	933	33	5	606	5	ECHDC1	6	127648195	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	15959399	127648195	43466872	52	132285											
SYNE1	23345	broad.mit.edu	37	chr6	152631626	152631626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggcagcttgtaacttttTcaactctgcttcaaattttt	5	9	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr6:152631626T>G	uc010kiw.2	-	89	17526	c.16924A>C	c.(16924-16926)AAA>CAA	p.K5642Q	SYNE1_uc010kiv.2_Missense_Mutation_p.K166Q|SYNE1_uc003qos.3_Missense_Mutation_p.K166Q|SYNE1_uc003qot.3_Missense_Mutation_p.K5571Q|SYNE1_uc003qou.3_Missense_Mutation_p.K5642Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5642	Spectrin 18.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTAACTTTTTCAACTCTGCT	0.428										HNSCC(10;0.0054)			G	152631626	T	G	152631626	3	3	266	1	0	0	0	0	1	0	0	0	15442	1792	62	5	9774	5	SYNE1	6	152631626	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	24983431	152631626	18483441	53	132286											
RNF216	54476	broad.mit.edu	37	chr7	5769126	5769126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacttgatgtcctgactactGagcactttgaagtcggccat	9	11	0	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:5769126G>A	uc003soy.1	-	7	1345	c.1155C>T	c.(1153-1155)CTC>CTT	p.L385L	RNF216_uc010ksz.1_Silent_p.L7L|RNF216_uc010kta.1_Silent_p.L7L|RNF216_uc011jwj.1_Silent_p.L7L|RNF216_uc003sox.1_Silent_p.L442L	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	385					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|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTGACTACTGAGCACTTTGA	0.493													A	5769126	G	A	5769126	2	1	266	1	0	0	0	0	0	0	0	1	13480	1277	45	4		4	RNF216	7	5769126	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		5769126	153369537	54	132287											
EIF2AK1	27102	broad.mit.edu	37	chr7	6066556	6066556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccaaacggctgaaagaGctctagcaggaccacaccca	9	13	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:6066556G>A	uc003spp.2	-	14	1713	c.1567C>T	c.(1567-1569)CTC>TTC	p.L523F	EIF2AK1_uc003spq.2_Missense_Mutation_p.L522F|EIF2AK1_uc011jwm.1_Missense_Mutation_p.L399F	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	523	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			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGCTGAAAGAGCTCTAGCAGG	0.443													A	6066556	G	A	6066556	3	1	266	1	0	0	0	0	1	0	0	0	4996	971	34	2	333	2	EIF2AK1	7	6066556	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	297430	6066556	153072107	55	132288											
HOXA9	3205	broad.mit.edu	37	chr7	27204564	27204564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcagagaaggcgccttcGctgggttgtttttctctatc	10	9	2	1	rs138291525		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:27204564G>A	uc003syt.2	-	1	586	c.513C>T	c.(511-513)AGC>AGT	p.S171S		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	171							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						AGGCGCCTTCGCTGGGTTGTT	0.552			T	NUP98|MSI2	AML*								A	27204564	G	A	27204564	2	1	266	1	0	0	0	0	0	0	0	1	7298	1078	38	1		1	HOXA9	7	27204564	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	21138008	27204564	131934099	56	132289											
GLI3	2737	broad.mit.edu	37	chr7	42088263	42088263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaatgaagggcaggtccGgatacgtagggctactagat	13	8	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:42088263G>A	uc011kbh.1	-	5	597	c.506C>T	c.(505-507)CCG>CTG	p.P169L	GLI3_uc011kbg.1_Missense_Mutation_p.P110L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	169			P -> L (in a colorectal cancer sample; somatic mutation).		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	p.P169L(1)		lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGGCAGGTCCGGATACGTAGG	0.527									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42088263	G	A	42088263	3	1	266	1	0	0	0	0	1	0	0	0	6439	1116	39	1	4280	1	GLI3	7	42088263	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	14883699	42088263	117050400	57	132290											
CHCHD2	51142	broad.mit.edu	37	chr7	56170694	56170694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctgtgctggctgggttCcctgaggctcctgcaaaggc	15	12	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:56170694C>T	uc003tsa.2	-	3	392	c.311G>A	c.(310-312)GGA>GAA	p.G104E	PSPH_uc003trj.2_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain	104						mitochondrion					0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGCTGGGTTCCCTGAGGCTC	0.473													T	56170694	C	T	56170694	3	4	266	1	0	0	0	0	1	0	0	0	3316	855	30	4	152	4	CHCHD2	7	56170694	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	14082431	56170694	102967969	58	132291											
GRM8	2918	broad.mit.edu	37	chr7	126086219	126086219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagagttcacttttcacctCgccatttggtctgtcatttc	6	12	4	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:126086219C>T	uc003vlr.2	-	9	2949	c.2638G>A	c.(2638-2640)GAG>AAG	p.E880K	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E880K|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	880	Cytoplasmic (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTTTTCACCTCGCCATTTGGT	0.453										HNSCC(24;0.065)			T	126086219	C	T	126086219	3	4	266	1	0	0	0	0	1	0	0	0	6803	893	31	1	146	1	GRM8	7	126086219	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	69915525	126086219	33052444	59	132292											
CHRM2	1129	broad.mit.edu	37	chr7	136700439	136700439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactgaaaactgtgttcAgggagaggagaaggagagct	16	4	1	5			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:136700439A>G	uc003vtf.1	+	4	1450	c.827A>G	c.(826-828)CAG>CGG	p.Q276R	CHRM2_uc003vtg.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtj.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtk.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtl.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtm.1_Missense_Mutation_p.Q276R|CHRM2_uc003vti.1_Missense_Mutation_p.Q276R|CHRM2_uc003vto.1_Missense_Mutation_p.Q276R|CHRM2_uc003vtn.1_Missense_Mutation_p.Q276R|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	276	Cytoplasmic (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	AACTGTGTTCAGGGAGAGGAG	0.483													G	136700439	A	G	136700439	3	3	266	1	0	0	0	0	1	0	0	0	3377	188	7	3	829	3	CHRM2	7	136700439	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	10614220	136700439	22438224	60	132293											
UBN2	254048	broad.mit.edu	37	chr7	138968977	138968977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactccagcactaacagccCagtccataaacagcccagtg	6	17	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr7:138968977C>T	uc011kqr.1	+	15	3326	c.3326C>T	c.(3325-3327)CCA>CTA	p.P1109L		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1109	Ser-rich.									ovary(1)|skin(1)	2						ACTAACAGCCCAGTCCATAAA	0.483													T	138968977	C	T	138968977	3	4	266	1	0	0	0	0	1	0	0	0	16890	594	21	4	3384	4	UBN2	7	138968977	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	2268538	138968977	20169686	61	132294											
DLGAP2	9228	broad.mit.edu	37	chr8	1626467	1626467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaggccacatcaccacGgaggacaaaggccttcagtt	9	14	2	0	rs149482724	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:1626467G>A	uc003wpl.2	+	9	2233	c.2136G>A	c.(2134-2136)ACG>ACA	p.T712T	DLGAP2_uc003wpm.2_Silent_p.T698T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	791					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		ACATCACCACGGAGGACAAAG	0.622													A	1626467	G	A	1626467	2	1	266	1	0	0	0	0	0	0	0	1	4560	1103	39	1		1	DLGAP2	8	1626467	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		1626467	144737555	62	132295											
SOX7	83595	broad.mit.edu	37	chr8	10584132	10584132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgctccgcctcgtccaCgtacggcctcttctgggaca	10	18	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:10584132C>T	uc003wtf.2	-	2	362	c.283G>A	c.(283-285)GTG>ATG	p.V95M	SOX7_uc011kwz.1_Missense_Mutation_p.V147M|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	95	HMG box.				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)	1				COAD - Colon adenocarcinoma(149;0.0732)		GCCTCGTCCACGTACGGCCTC	0.632													T	10584132	C	T	10584132	3	4	266	1	0	0	0	0	1	0	0	0	14956	536	19	1	887	1	SOX7	8	10584132	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	8957665	10584132	135779890	63	132296											
PRKDC	5591	broad.mit.edu	37	chr8	48842451	48842451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggcatttcttactgtaaTagaaagcaatttgtagaaac	7	6	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:48842451T>C	uc003xqi.2	-	18	2071	c.2014A>G	c.(2014-2016)ATT>GTT	p.I672V	PRKDC_uc003xqj.2_Missense_Mutation_p.I672V|PRKDC_uc011ldh.1_Missense_Mutation_p.I672V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTACTGTAATAGAAAGCAAT	0.328								NHEJ					C	48842451	T	C	48842451	3	2	266	1	0	0	0	0	1	0	0	0	12521	1406	49	3	10647	3	PRKDC	8	48842451	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	38258319	48842451	97521571	64	132297											
PXDNL	137902	broad.mit.edu	37	chr8	52370223	52370223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttccaaatccaatgAgtggctggaaatataggtta	8	7	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:52370223A>G	uc003xqu.3	-	9	918	c.817T>C	c.(817-819)TCA>CCA	p.S273P		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	273	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAATCCAATGAGTGGCTGGAA	0.353													G	52370223	A	G	52370223	3	3	266	1	0	0	0	0	1	0	0	0	12848	304	11	3	3634	3	PXDNL	8	52370223	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	3527772	52370223	93993799	65	132298											
PREX2	80243	broad.mit.edu	37	chr8	68864659	68864659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccgcggagacagccgCgccgagagcgccaaggacct	15	15	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:68864659C>T	uc003xxv.1	+	1	57	c.30C>T	c.(28-30)CGC>CGT	p.R10R	PREX2_uc003xxu.1_Silent_p.R10R|PREX2_uc011lez.1_Silent_p.R10R|PREX2_uc003xxt.2_Silent_p.R10R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	10					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAGACAGCCGCGCCGAGAGCG	0.632													T	68864659	C	T	68864659	2	4	266	1	0	0	0	0	0	0	0	1	12477	755	27	1		1	PREX2	8	68864659	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	16494436	68864659	77499363	66	132299											
SULF1	23213	broad.mit.edu	37	chr8	70515528	70515528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaagtctgtcctcaaacTtctggacccagaaaagccag	9	13	3	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:70515528T>C	uc010lza.1	+	11	1880	c.1163T>C	c.(1162-1164)CTT>CCT	p.L388P	SULF1_uc003xyd.2_Missense_Mutation_p.L388P|SULF1_uc003xye.2_Missense_Mutation_p.L388P|SULF1_uc003xyf.2_Missense_Mutation_p.L388P|SULF1_uc003xyg.2_Missense_Mutation_p.L388P|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	388					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTCCTCAAACTTCTGGACCCA	0.557													C	70515528	T	C	70515528	3	2	266	1	0	0	0	0	1	0	0	0	15369	1609	56	3	1189	3	SULF1	8	70515528	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	1650869	70515528	75848494	67	132300											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:104898096T>C	uc003yls.2	+	2	844	c.603T>C	c.(601-603)TCT>TCC	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			C	104898096	T	C	104898096	2	2	266	1	0	0	0	0	0	0	0	1	13368	1596	56	3		3	RIMS2	8	104898096	Silent	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	34382568	104898096	41465926	68	132301											
WDR67	93594	broad.mit.edu	37	chr8	124096454	124096454	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgaatcatcagtattttcGatctctgtgcatgcatcagg	8	9	4	1	rs146436284		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:124096454G>A	uc003ypp.1	+	4	483	c.393G>A	c.(391-393)TCG>TCA	p.S131S	WDR67_uc011lig.1_Silent_p.S131S|WDR67_uc011lih.1_Silent_p.S21S|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Silent_p.S131S	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	131	WD 2.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGTATTTTCGATCTCTGTGC	0.393													A	124096454	G	A	124096454	2	1	266	1	0	0	0	0	0	0	0	1	17315	1045	37	1		1	WDR67	8	124096454	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	19198358	124096454	22267568	69	132302											
KIAA0196	9897	broad.mit.edu	37	chr8	126056089	126056089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattatagcctcgagatacGcagtccaaatcttctgtgtt	7	10	3	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:126056089G>A	uc003yrt.2	-	23	3157	c.2828C>T	c.(2827-2829)GCG>GTG	p.A943V	KIAA0196_uc011lir.1_Missense_Mutation_p.A795V|KIAA0196_uc003yru.1_Missense_Mutation_p.A517V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	943					cell death	WASH complex				ovary(2)	2	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)			CTCGAGATACGCAGTCCAAAT	0.303													A	126056089	G	A	126056089	3	1	266	1	0	0	0	0	1	0	0	0	8161	1087	38	1	679	1	KIAA0196	8	126056089	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	1959635	126056089	20307933	70	132303											
COL22A1	169044	broad.mit.edu	37	chr8	139890073	139890073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaagacgtgggcggacTtgggctctgaggcgatctcc	17	10	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:139890073T>C	uc003yvd.2	-	3	1025	c.578A>G	c.(577-579)AAG>AGG	p.K193R		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	193	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			GTGGGCGGACTTGGGCTCTGA	0.672										HNSCC(7;0.00092)			C	139890073	T	C	139890073	3	2	266	1	0	0	0	0	1	0	0	0	3681	1609	56	3	4554	3	COL22A1	8	139890073	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	13833984	139890073	6473949	71	132304											
GPR20	2843	broad.mit.edu	37	chr8	142367371	142367371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacagtgcacacatgatgCggccggtaaacacgctgatg	13	11	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:142367371C>T	uc003ywf.2	-	2	742	c.653G>A	c.(652-654)CGC>CAC	p.R218H		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	218	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	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)			ACACATGATGCGGCCGGTAAA	0.662													T	142367371	C	T	142367371	3	4	266	1	0	0	0	0	1	0	0	0	6680	768	27	1	427	1	GPR20	8	142367371	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	2477298	142367371	3996651	72	132305											
NAPRT1	93100	broad.mit.edu	37	chr8	144659014	144659014	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctggcgccaacatcTgtggaacagagtcggtgaag	14	10	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr8:144659014T>A	uc003yym.3	-	6	710	c.685_splice	c.e6-1	p.M229_splice	NAPRT1_uc003yyn.3_Splice_Site_p.M229_splice|NAPRT1_uc011lkh.1_Splice_Site_p.M229_splice|NAPRT1_uc003yyo.3_Splice_Site_p.M229_splice	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain						nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGCCAACATCTGTGGAACAGA	0.642													A	144659014	T	A	144659014	5	1	266	1	0	0	0	0	0	0	1	0	10165	1594	55	5	965	5	NAPRT1	8	144659014	Splice_Site	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	2291643	144659014	1705008	73	132306											
ROR2	4920	broad.mit.edu	37	chr9	94493380	94493380	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggcactggtggcctgacTtggtggtgcttgccgttcct	15	11	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:94493380T>A	uc004arj.1	-	7	1194	c.995A>T	c.(994-996)AAG>ATG	p.K332M	ROR2_uc004ari.1_Missense_Mutation_p.K192M|ROR2_uc004ark.2_Missense_Mutation_p.K332M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	332	Extracellular (Potential).|Kringle.				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GTGGCCTGACTTGGTGGTGCT	0.592													A	94493380	T	A	94493380	3	1	266	1	0	0	0	0	1	0	0	0	13527	1609	56	5	1848	5	ROR2	9	94493380	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08		94493380	46720051	74	132307											
CERCAM	51148	broad.mit.edu	37	chr9	131193480	131193480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagtgccatcaggaacctCggcgtagacctgctcccggg	13	14	1	1	rs59813556	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:131193480C>T	uc004buz.3	+	9	1499	c.1101C>T	c.(1099-1101)CTC>CTT	p.L367L	CERCAM_uc004buy.1_Silent_p.L289L|CERCAM_uc010mxz.2_Silent_p.L289L|CERCAM_uc010mya.1_Silent_p.L208L	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	367					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						TCAGGAACCTCGGCGTAGACC	0.652													T	131193480	C	T	131193480	2	4	266	1	0	0	0	0	0	0	0	1	3266	871	31	1		1	CERCAM	9	131193480	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	36700100	131193480	10019951	75	132308											
BARHL1	56751	broad.mit.edu	37	chr9	135458231	135458231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactccattctctcccaccGcgcgggcagccccgcccttc	8	22	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:135458231G>A	uc004cbp.1	+	1	239	c.47G>A	c.(46-48)CGC>CAC	p.R16H		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	16						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CTCTCCCACCGCGCGGGCAGC	0.662													A	135458231	G	A	135458231	3	1	266	1	0	0	0	0	1	0	0	0	1313	1087	38	1	49	1	BARHL1	9	135458231	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	4264751	135458231	5755200	76	132309											
C9orf116	138162	broad.mit.edu	37	chr9	138387363	138387363	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttatcggggccagtcacGatgcttttctccaggtaaac	10	11	2	0	rs150939171		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr9:138387363G>A	uc004cft.1	-	3	385	c.321C>T	c.(319-321)ATC>ATT	p.I107I	C9orf116_uc004cfs.1_Missense_Mutation_p.S92L|C9orf116_uc004cfu.1_RNA	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	107											0				OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GGCCAGTCACGATGCTTTTCT	0.468													A	138387363	G	A	138387363	2	1	266	1	0	0	0	0	0	0	0	1	2450	1059	37	1		1	C9orf116	9	138387363	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	2929132	138387363	2826068	77	132310											
NEBL	10529	broad.mit.edu	37	chr10	21117564	21117564	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcttcatctttatactttctCtaaaaacataaacagttaat	2	8	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:21117564C>G	uc001iqi.2	-	17	2069	c.1672_splice	c.e17-1	p.R558_splice	NEBL_uc001iqj.2_Splice_Site|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_Splice_Site	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform						regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TATACTTTCTCTAAAAACATA	0.249													G	21117564	C	G	21117564	5	3	266	1	0	0	0	0	0	0	1	0	10303	927	32	5	1421	5	NEBL	10	21117564	Splice_Site	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		21117564	114417183	78	132311											
ARMC3	219681	broad.mit.edu	37	chr10	23295908	23295908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatcaacagtaaatcttaCgtgtgagtctctgcagggag	10	7	3	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:23295908C>T	uc001irm.3	+	14	1910	c.1827C>T	c.(1825-1827)TAC>TAT	p.Y609Y	ARMC3_uc010qcv.1_Silent_p.Y609Y|ARMC3_uc010qcw.1_Silent_p.Y346Y	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	609							binding				0						GTAAATCTTACGTGTGAGTCT	0.468													T	23295908	C	T	23295908	2	4	266	1	0	0	0	0	0	0	0	1	952	547	19	1		1	ARMC3	10	23295908	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	2178344	23295908	112238839	79	132312											
PTCHD3	374308	broad.mit.edu	37	chr10	27702414	27702414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcgccctgtacctcgCgcacacctgctggtactgga	12	15	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:27702414C>T	uc001itu.2	-	1	884	c.766G>A	c.(766-768)GCG>ACG	p.A256T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	256					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CTGTACCTCGCGCACACCTGC	0.622													T	27702414	C	T	27702414	3	4	266	1	0	0	0	0	1	0	0	0	12734	768	27	1	1553	1	PTCHD3	10	27702414	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	4406506	27702414	107832333	80	132313											
ZNF33A	7581	broad.mit.edu	37	chr10	38344966	38344966	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggggagaaaccctataaAtgtaatgagtgtggaaaagc	12	4	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:38344966A>C	uc001izh.2	+	5	2089	c.1911A>C	c.(1909-1911)AAA>AAC	p.K637N	ZNF33A_uc001izg.2_Missense_Mutation_p.K638N|ZNF33A_uc010qev.1_Missense_Mutation_p.K644N|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	637	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						AACCCTATAAATGTAATGAGT	0.393													C	38344966	A	C	38344966	3	2	266	1	0	0	0	0	1	0	0	0	17851	98	4	5	1928	5	ZNF33A	10	38344966	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	10642552	38344966	97189781	81	132314											
PGBD3	267004	broad.mit.edu	37	chr10	50724334	50724334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacccgtgacgaccaaaaTaaggaaccatgaattcatca	7	11	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:50724334T>C	uc001jht.2	-	2	1082	c.827A>G	c.(826-828)TAT>TGT	p.Y276C	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.Y744C|PGBD3_uc001jhu.2_Missense_Mutation_p.Y744C	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	276										pancreas(1)|breast(1)|skin(1)	3						ACGACCAAAATAAGGAACCAT	0.408													C	50724334	T	C	50724334	3	2	266	1	0	0	0	0	1	0	0	0	11782	1406	49	3	958	3	PGBD3	10	50724334	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	12379368	50724334	84810413	82	132315											
PCDH15	65217	broad.mit.edu	37	chr10	56077046	56077046	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaccggagttctcaactcAggtatggcagcttgataagt	10	8	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:56077046A>T	uc001jju.1	-	8	1256	c.861T>A	c.(859-861)CCT>CCA	p.P287P	PCDH15_uc010qhq.1_Silent_p.P292P|PCDH15_uc010qhr.1_Silent_p.P287P|PCDH15_uc010qhs.1_Silent_p.P292P|PCDH15_uc010qht.1_Silent_p.P287P|PCDH15_uc010qhu.1_Silent_p.P287P|PCDH15_uc001jjv.1_Silent_p.P265P|PCDH15_uc010qhv.1_Silent_p.P287P|PCDH15_uc010qhw.1_Silent_p.P250P|PCDH15_uc010qhx.1_Silent_p.P287P|PCDH15_uc010qhy.1_Silent_p.P292P|PCDH15_uc010qhz.1_Silent_p.P287P|PCDH15_uc010qia.1_Silent_p.P265P|PCDH15_uc010qib.1_Silent_p.P265P|PCDH15_uc001jjw.2_Silent_p.P287P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	287	Cadherin 3.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTCAACTCAGGTATGGCAG	0.393										HNSCC(58;0.16)			T	56077046	A	T	56077046	2	4	266	1	0	0	0	0	0	0	0	1	11511	175	7	5		5	PCDH15	10	56077046	Silent	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	5352712	56077046	79457701	83	132316											
SAR1A	56681	broad.mit.edu	37	chr10	71913593	71913593	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaaatatttttctcttaCctttcctgtggtctgtccat	4	12	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:71913593C>T	uc010qjh.1	-	7	683	c.480_splice	c.e7+1	p.K160_splice	SAR1A_uc010qji.1_Splice_Site_p.K160_splice|SAR1A_uc010qjj.1_Splice_Site_p.K117_splice	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN	SAR1a gene homolog 1						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0						TTTTCTCTTACCTTTCCTGTG	0.343													T	71913593	C	T	71913593	5	4	266	1	0	0	0	0	0	0	1	0	13839	521	18	4	123	4	SAR1A	10	71913593	Splice_Site	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	15836547	71913593	63621154	84	132317											
MMRN2	79812	broad.mit.edu	37	chr10	88702628	88702628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtcctgcagggccacgCggatctgctcgtagctcagg	15	14	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:88702628C>T	uc001kea.2	-	6	2040	c.1913G>A	c.(1912-1914)CGC>CAC	p.R638H	MMRN2_uc010qmn.1_Missense_Mutation_p.R281H|MMRN2_uc009xtb.2_Missense_Mutation_p.R595H	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	638						extracellular space				large_intestine(1)	1						CAGGGCCACGCGGATCTGCTC	0.736													T	88702628	C	T	88702628	3	4	266	1	0	0	0	0	1	0	0	0	9671	768	27	1	944	1	MMRN2	10	88702628	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	16789035	88702628	46832119	85	132318											
PDCD11	22984	broad.mit.edu	37	chr10	105158256	105158256	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagagaaagctttccagCagtcagttgaacaagacaac	8	10	1	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:105158256C>T	uc001kwy.1	+	2	160	c.73C>T	c.(73-75)CAG>TAG	p.Q25*	USMG5_uc001kww.1_5'Flank|USMG5_uc001kwx.1_5'Flank	NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	25					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		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)		AGCTTTCCAGCAGTCAGTTGA	0.413													T	105158256	C	T	105158256	4	4	266	1	0	0	0	0	0	1	0	0	11617	711	25	2	75	2	PDCD11	10	105158256	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	16455628	105158256	30376491	86	132319											
C10orf81	79949	broad.mit.edu	37	chr10	115526470	115526470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgaggttccattgaaAttgatcagtgtgtatccaag	9	8	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr10:115526470A>G	uc001lat.1	+	3	761	c.199A>G	c.(199-201)ATT>GTT	p.I67V	C10orf81_uc001lar.1_Missense_Mutation_p.I73V|C10orf81_uc009xyc.1_5'UTR|C10orf81_uc001las.1_Intron	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	67	PH.									central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TTCCATTGAAATTGATCAGTG	0.353													G	115526470	A	G	115526470	3	3	266	1	0	0	0	0	1	0	0	0	1619	101	4	3	227	3	C10orf81	10	115526470	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	10368214	115526470	20008277	87	132320											
OR51F1	256892	broad.mit.edu	37	chr11	4790778	4790778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagatggccacataacGgtcaaaggctgtagccacca	10	12	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:4790778G>A	uc010qyl.1	-	1	370	c.370C>T	c.(370-372)CGT>TGT	p.R124C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	124						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		GCCACATAACGGTCAAAGGCT	0.428													A	4790778	G	A	4790778	3	1	266	1	0	0	0	0	1	0	0	0	11096	1116	39	1	571	1	OR51F1	11	4790778	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		4790778	130215738	88	132321											
MS4A14	84689	broad.mit.edu	37	chr11	60170398	60170398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagggtcaaggtgtcaCgggcatgaatgttatcagct	12	8	4	1	rs146613208	by1000genomes	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:60170398C>T	uc001npj.2	+	4	897	c.332C>T	c.(331-333)ACG>ATG	p.T111M	MS4A14_uc001npi.2_Translation_Start_Site|MS4A14_uc001npn.2_Translation_Start_Site|MS4A14_uc001npk.2_Missense_Mutation_p.T94M|MS4A14_uc001npl.2_Translation_Start_Site|MS4A14_uc001npm.2_Translation_Start_Site	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	111	Helical; (Potential).					integral to membrane	receptor activity			breast(1)	1						CAAGGTGTCACGGGCATGAAT	0.358													T	60170398	C	T	60170398	3	4	266	1	0	0	0	0	1	0	0	0	9858	536	19	1	346	1	MS4A14	11	60170398	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	55379620	60170398	74836118	89	132322											
MS4A10	341116	broad.mit.edu	37	chr11	60558491	60558491	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacctggtctttgggggCtacctggcctctatagtcaa	11	12	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:60558491C>A	uc001npz.1	+	3	324	c.228C>A	c.(226-228)GGC>GGA	p.G76G		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	76	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						TCTTTGGGGGCTACCTGGCCT	0.562													A	60558491	C	A	60558491	2	1	266	1	0	0	0	0	0	0	0	1	9855	784	28	5		5	MS4A10	11	60558491	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	388093	60558491	74448025	90	132323											
CCDC86	79080	broad.mit.edu	37	chr11	60609973	60609973	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtgaggaggcaccaAagtgttctcaggaccaggga	14	9	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:60609973A>C	uc001nqa.2	+	1	545	c.376A>C	c.(376-378)AAG>CAG	p.K126Q	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	126	Pro-rich.				interspecies interaction between organisms	nucleus					0						GGAGGCACCAAAGTGTTCTCA	0.617													C	60609973	A	C	60609973	3	2	266	1	0	0	0	0	1	0	0	0	2861	15	1	5	378	5	CCDC86	11	60609973	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	51482	60609973	74396543	91	132324											
DDB1	1642	broad.mit.edu	37	chr11	61094279	61094279	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatggaagcttcagcttcGacattttcctgtttccaagg	8	11	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:61094279G>A	uc001nrc.3	-	5	862	c.636C>T	c.(634-636)GTC>GTT	p.V212V	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.V212V|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Silent_p.V212V|DDB1_uc009ynl.1_Silent_p.V99V	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	212	Interaction with CDT1.				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			ovary(2)|lung(1)|central_nervous_system(1)	4						CTTCAGCTTCGACATTTTCCT	0.532								NER					A	61094279	G	A	61094279	2	1	266	1	0	0	0	0	0	0	0	1	4323	1045	37	1		1	DDB1	11	61094279	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	484306	61094279	73912237	92	132325											
DAGLA	747	broad.mit.edu	37	chr11	61508640	61508640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcctgtcctcaggtgctgGagaactacaacaaggggaag	13	9	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:61508640G>A	uc001nsa.2	+	19	2101	c.1990G>A	c.(1990-1992)GAG>AAG	p.E664K		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	664	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TCAGGTGCTGGAGAACTACAA	0.632													A	61508640	G	A	61508640	3	1	266	1	0	0	0	0	1	0	0	0	4226	1175	41	4	2060	4	DAGLA	11	61508640	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	414361	61508640	73497876	93	132326											
CTSW	1521	broad.mit.edu	37	chr11	65650595	65650595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgtgaccatcaacatgaaGccccttcaggtgagatgggg	12	11	2	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:65650595G>T	uc001ogc.1	+	8	843	c.801G>T	c.(799-801)AAG>AAT	p.K267N	CTSW_uc001ogb.1_Missense_Mutation_p.K267N	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	267					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		TCAACATGAAGCCCCTTCAGG	0.607													T	65650595	G	T	65650595	3	4	266	1	0	0	0	0	1	0	0	0	4042	962	34	5	831	5	CTSW	11	65650595	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	4141955	65650595	69355921	94	132327											
CABP2	51475	broad.mit.edu	37	chr11	67287394	67287394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccacgctgatgcggccGtccccattggtgtcgaactg	12	15	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:67287394G>A	uc001omc.1	-	6	609	c.507C>T	c.(505-507)GAC>GAT	p.D169D	CABP2_uc001omd.1_Silent_p.D112D|CABP2_uc001ome.1_Silent_p.D175D	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	169	EF-hand 3.|2 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						TGATGCGGCCGTCCCCATTGG	0.682													A	67287394	G	A	67287394	2	1	266	1	0	0	0	0	0	0	0	1	2532	1136	40	1		1	CABP2	11	67287394	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	1636799	67287394	67719122	95	132328											
PDE2A	5138	broad.mit.edu	37	chr11	72289976	72289976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcttccagcccttggtctGgtcagagaggtcacaggagg	14	10	4	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:72289976G>T	uc010rrc.1	-	28	2677	c.2434C>A	c.(2434-2436)CAG>AAG	p.Q812K	PDE2A_uc001oso.2_Missense_Mutation_p.Q791K|PDE2A_uc010rra.1_Missense_Mutation_p.Q805K|PDE2A_uc001osn.2_Missense_Mutation_p.Q556K|PDE2A_uc010rrb.1_Missense_Mutation_p.Q803K|PDE2A_uc010rrd.1_Missense_Mutation_p.Q697K	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	812	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCCTTGGTCTGGTCAGAGAGG	0.597													T	72289976	G	T	72289976	3	4	266	1	0	0	0	0	1	0	0	0	11636	1357	47	5	407	5	PDE2A	11	72289976	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	5002582	72289976	62716540	96	132329											
ARAP1	116985	broad.mit.edu	37	chr11	72398783	72398783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccactgtgaagccccaGctacagaggaagaagggaga	13	10	0	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:72398783G>A	uc001osu.2	-	32	4260	c.4071C>T	c.(4069-4071)TGC>TGT	p.C1357C	ARAP1_uc001osv.2_Silent_p.C1346C|ARAP1_uc001osr.2_Silent_p.C1117C|ARAP1_uc001oss.2_Silent_p.C1112C|ARAP1_uc009yth.2_Silent_p.C1040C|ARAP1_uc010rre.1_Silent_p.C1101C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1357	PH 4.				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			skin(1)	1						TGAAGCCCCAGCTACAGAGGA	0.562													A	72398783	G	A	72398783	2	1	266	1	0	0	0	0	0	0	0	1	838	985	34	2		2	ARAP1	11	72398783	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	108807	72398783	62607733	97	132330											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451527	110451527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactccctgaggtaggaaaGctttgaatccagatagtcga	10	8	0	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr11:110451527G>T	uc001pkz.1	-	16	2428	c.2143C>A	c.(2143-2145)CTT>ATT	p.L715I	ARHGAP20_uc001pky.1_Missense_Mutation_p.L692I|ARHGAP20_uc009yyb.1_Missense_Mutation_p.L679I|ARHGAP20_uc001pla.1_Missense_Mutation_p.L679I|ARHGAP20_uc001plb.2_Missense_Mutation_p.L258I	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	715					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		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)		AGGTAGGAAAGCTTTGAATCC	0.483													T	110451527	G	T	110451527	3	4	266	1	0	0	0	0	1	0	0	0	870	971	34	5	1436	5	ARHGAP20	11	110451527	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	38052744	110451527	24554989	98	132331											
CACNA1C	775	broad.mit.edu	37	chr12	2675732	2675732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactacaaccagcccaactgGctcacagaagtccaaggtga	8	14	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:2675732G>T	uc009zdu.1	+	12	1966	c.1653G>T	c.(1651-1653)TGG>TGT	p.W551C	CACNA1C_uc009zdv.1_Missense_Mutation_p.W548C|CACNA1C_uc001qkb.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkc.2_Missense_Mutation_p.W551C|CACNA1C_uc001qke.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkf.2_Missense_Mutation_p.W551C|CACNA1C_uc001qjz.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkd.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkg.2_Missense_Mutation_p.W551C|CACNA1C_uc009zdw.1_Missense_Mutation_p.W551C|CACNA1C_uc001qkh.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkl.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkn.2_Missense_Mutation_p.W551C|CACNA1C_uc001qko.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkp.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkr.2_Missense_Mutation_p.W551C|CACNA1C_uc001qku.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkq.2_Missense_Mutation_p.W551C|CACNA1C_uc001qks.2_Missense_Mutation_p.W551C|CACNA1C_uc001qkt.2_Missense_Mutation_p.W551C|CACNA1C_uc001qka.1_Missense_Mutation_p.W86C|CACNA1C_uc001qki.1_Missense_Mutation_p.W287C|CACNA1C_uc001qkj.1_Missense_Mutation_p.W287C|CACNA1C_uc001qkk.1_Missense_Mutation_p.W287C|CACNA1C_uc001qkm.1_Missense_Mutation_p.W287C|CACNA1C_uc009zdy.1_Missense_Mutation_p.W216C|CACNA1C_uc001qkv.1_Missense_Mutation_p.W121C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	551	Extracellular (Potential).|II.				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			ovary(10)|central_nervous_system(1)	11			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)	AGCCCAACTGGCTCACAGAAG	0.577													T	2675732	G	T	2675732	3	4	266	1	0	0	0	0	1	0	0	0	2540	1212	42	5	1807	5	CACNA1C	12	2675732	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		2675732	131176163	99	132332											
CHD4	1108	broad.mit.edu	37	chr12	6690868	6690868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtcccctggagtggagGgtgtaggagtttttggggag	20	5	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:6690868G>A	uc001qpo.2	-	31	4792	c.4628C>T	c.(4627-4629)CCC>CTC	p.P1543L	CHD4_uc001qpn.2_Missense_Mutation_p.P1536L|CHD4_uc001qpp.2_Missense_Mutation_p.P1568L|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1543					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						TGGAGTGGAGGGTGTAGGAGT	0.552													A	6690868	G	A	6690868	3	1	266	1	0	0	0	0	1	0	0	0	3327	1232	43	4	1150	4	CHD4	12	6690868	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	4015136	6690868	127161027	100	132333											
NELL2	4753	broad.mit.edu	37	chr12	45173632	45173632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggacactacacttacTtattgcagtcaatgtgtaaa	7	7	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:45173632T>C	uc001rog.2	-	4	1104	c.509A>G	c.(508-510)AAA>AGA	p.K170R	NELL2_uc001rof.3_Missense_Mutation_p.K169R|NELL2_uc001roh.2_Missense_Mutation_p.K170R|NELL2_uc009zkd.2_Missense_Mutation_p.K169R|NELL2_uc010skz.1_Missense_Mutation_p.K220R|NELL2_uc010sla.1_Missense_Mutation_p.K193R|NELL2_uc001roi.1_Missense_Mutation_p.K170R|NELL2_uc010slb.1_Missense_Mutation_p.K169R|NELL2_uc001roj.2_Missense_Mutation_p.K170R	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	170	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTACACTTACTTATTGCAGTC	0.373													C	45173632	T	C	45173632	3	2	266	1	0	0	0	0	1	0	0	0	10334	1623	56	3	2009	3	NELL2	12	45173632	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	38482764	45173632	88678263	101	132334											
KRT75	9119	broad.mit.edu	37	chr12	52824425	52824425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactatccaggtccaggttgCggttgttgtccatggacagc	12	10	0	0	rs148227046	byFrequency	TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:52824425C>T	uc001saj.2	-	5	957	c.935G>A	c.(934-936)CGC>CAC	p.R312H		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	312	Linker 12.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		GTCCAGGTTGCGGTTGTTGTC	0.572													T	52824425	C	T	52824425	3	4	266	1	0	0	0	0	1	0	0	0	8488	768	27	1	740	1	KRT75	12	52824425	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	7650793	52824425	81027470	102	132335											
WDR66	144406	broad.mit.edu	37	chr12	122404867	122404867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttgccttcagaaagacGcttctggggccagcttatgg	11	10	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr12:122404867G>A	uc009zxk.2	+	16	2641	c.2499G>A	c.(2497-2499)ACG>ACA	p.T833T		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	833							calcium ion binding			ovary(1)|skin(1)	2	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)		TCAGAAAGACGCTTCTGGGGC	0.378													A	122404867	G	A	122404867	2	1	266	1	0	0	0	0	0	0	0	1	17314	1074	38	1		1	WDR66	12	122404867	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	69580442	122404867	11447028	103	132336											
SACS	26278	broad.mit.edu	37	chr13	23905122	23905122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaaagaattaaccttaAgctttttgggggactgatgt	11	5	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:23905122A>C	uc001uon.2	-	10	13482	c.12893T>G	c.(12892-12894)CTT>CGT	p.L4298R	SACS_uc001uoo.2_Missense_Mutation_p.L4151R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4298					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		ATTAACCTTAAGCTTTTTGGG	0.453													C	23905122	A	C	23905122	3	2	266	1	0	0	0	0	1	0	0	0	13804	72	3	5	850	5	SACS	13	23905122	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08		23905122	91264756	104	132337											
MTUS2	23281	broad.mit.edu	37	chr13	29598939	29598939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttaagtctgggagataCgaatgccaatcaaatcatgt	8	8	4	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:29598939C>T	uc001usl.3	+	1	192	c.134C>T	c.(133-135)ACG>ATG	p.T45M		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	35						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CTGGGAGATACGAATGCCAAT	0.433													T	29598939	C	T	29598939	3	4	266	1	0	0	0	0	1	0	0	0	9966	536	19	1	136	1	MTUS2	13	29598939	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	5693817	29598939	85570939	105	132338											
NBEA	26960	broad.mit.edu	37	chr13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatatactatgaacgagggCgattcagtaatttcagcatt	8	7	3	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:36241642C>T	uc001uvb.2	+	56	8739	c.8533C>T	c.(8533-8535)CGA>TGA	p.R2845*	NBEA_uc010abi.2_Nonsense_Mutation_p.R1503*|NBEA_uc010tef.1_Nonsense_Mutation_p.R638*|NBEA_uc001uvd.2_Nonsense_Mutation_p.R423*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		TGAACGAGGGCGATTCAGTAA	0.428													T	36241642	C	T	36241642	4	4	266	1	0	0	0	0	0	1	0	0	10187	760	27	1	8755	1	NBEA	13	36241642	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	6642703	36241642	78928236	106	132339											
FREM2	341640	broad.mit.edu	37	chr13	39425246	39425246	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatccgagatgatgctgataGtaagaaatctttttttgttt	9	4	1	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:39425246G>C	uc001uwv.2	+	10	7051	c.6742_splice	c.e10+1	p.K2248_splice	FREM2_uc001uww.2_Splice_Site_p.K334_splice	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		GATGCTGATAGTAAGAAATCT	0.323													C	39425246	G	C	39425246	5	2	266	1	0	0	0	0	0	0	1	0	6045	1043	36	5	6781	5	FREM2	13	39425246	Splice_Site	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	3183604	39425246	75744632	107	132340											
CLYBL	171425	broad.mit.edu	37	chr13	100425205	100425205	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaaaataaagaagattccaTccctgaatgtagattgtgca	8	6	0	5			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr13:100425205T>A	uc001vok.2	+	2	204	c.190T>A	c.(190-192)TCC>ACC	p.S64T	CLYBL_uc010tix.1_Missense_Mutation_p.S64T|CLYBL_uc010tiy.1_Missense_Mutation_p.S64T	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	64					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAGATTCCATCCCTGAATGT	0.413													A	100425205	T	A	100425205	3	1	266	1	0	0	0	0	1	0	0	0	3573	1435	50	5	196	5	CLYBL	13	100425205	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	60999959	100425205	14744673	108	132341											
METT11D1	64745	broad.mit.edu	37	chr14	21464860	21464860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtgctcacagcccgcCggcacggcaggtatgggggg	17	12	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:21464860C>T	uc001vyn.2	+	13	1452	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	METT11D1_uc001vym.2_Missense_Mutation_p.R419W|METT11D1_uc001vyo.2_Missense_Mutation_p.R419W|METT11D1_uc001vyp.2_Missense_Mutation_p.R261W|METT11D1_uc001vyq.2_Missense_Mutation_p.R261W|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	419					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CACAGCCCGCCGGCACGGCAG	0.582													T	21464860	C	T	21464860	3	4	266	1	0	0	0	0	1	0	0	0	9491	643	23	1	1305	1	METT11D1	14	21464860	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		21464860	85884680	109	132342											
PAX9	5083	broad.mit.edu	37	chr14	37132490	37132490	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcattctgcgcaacaagatCggcaacttggcccagcaggg	12	13	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:37132490C>A	uc001wty.3	+	3	1110	c.393C>A	c.(391-393)ATC>ATA	p.I131I	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	131					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		GCAACAAGATCGGCAACTTGG	0.627													A	37132490	C	A	37132490	2	1	266	1	0	0	0	0	0	0	0	1	11486	874	31	5		5	PAX9	14	37132490	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	15667630	37132490	70217050	110	132343											
C14orf174	161394	broad.mit.edu	37	chr14	77845388	77845388	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagttacaatttgagcatCttaattgggatccagaggaa	10	6	1	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:77845388C>T	uc001xtq.1	+	1	1627	c.1627C>T	c.(1627-1629)CTT>TTT	p.L543F	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	543											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ATTTGAGCATCTTAATTGGGA	0.418													T	77845388	C	T	77845388	3	4	266	1	0	0	0	0	1	0	0	0	1759	913	32	4	1629	4	C14orf174	14	77845388	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	40712898	77845388	29504152	111	132344											
DYNC1H1	1778	broad.mit.edu	37	chr14	102467528	102467528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgaagcacttaaagaccGccattggaaacagctcatga	8	11	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr14:102467528G>A	uc001yks.2	+	20	4396	c.4232G>A	c.(4231-4233)CGC>CAC	p.R1411H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1411	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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTTAAAGACCGCCATTGGAAA	0.428													A	102467528	G	A	102467528	3	1	266	1	0	0	0	0	1	0	0	0	4841	1087	38	1	4310	1	DYNC1H1	14	102467528	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	24622140	102467528	4882012	112	132345											
RYR3	6263	broad.mit.edu	37	chr15	33895329	33895329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtttactttcagtatccGgccaaacatcttcctgggag	8	11	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:33895329G>A	uc001zhi.2	+	18	1998	c.1928G>A	c.(1927-1929)CGG>CAG	p.R643Q	RYR3_uc010bar.2_Missense_Mutation_p.R643Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	643	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TTCAGTATCCGGCCAAACATC	0.517													A	33895329	G	A	33895329	3	1	266	1	0	0	0	0	1	0	0	0	13770	1116	39	1	1998	1	RYR3	15	33895329	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		33895329	68636063	113	132346											
PAK6	56924	broad.mit.edu	37	chr15	40568171	40568171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcggatgctggtgcGggacccccaagagagagcca	16	12	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:40568171G>A	uc010bbl.2	+	11	2362	c.1922G>A	c.(1921-1923)CGG>CAG	p.R641Q	PAK6_uc010bbm.2_Missense_Mutation_p.R641Q|PAK6_uc001zky.3_Missense_Mutation_p.R596Q|PAK6_uc010bbn.2_Missense_Mutation_p.R641Q|PAK6_uc001zlb.2_Missense_Mutation_p.R641Q	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	641	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		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)		ATGCTGGTGCGGGACCCCCAA	0.612													A	40568171	G	A	40568171	3	1	266	1	0	0	0	0	1	0	0	0	11404	1116	39	1	1952	1	PAK6	15	40568171	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	6672842	40568171	61963221	114	132347											
MYO5A	4644	broad.mit.edu	37	chr15	52622646	52622646	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggaatgttgactggtcGgatgggttcatcaatgatct	13	7	3	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:52622646G>A	uc002aby.2	-	34	4628	c.4384C>T	c.(4384-4386)CGA>TGA	p.R1462*	MYO5A_uc002abx.3_Nonsense_Mutation_p.R1435*|MYO5A_uc010ugd.1_Nonsense_Mutation_p.R184*|MYO5A_uc002abz.1_RNA	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413													A	52622646	G	A	52622646	4	1	266	1	0	0	0	0	0	1	0	0	10078	1124	39	1	1215	1	MYO5A	15	52622646	Nonsense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	12054475	52622646	49908746	115	132348											
HERC1	8925	broad.mit.edu	37	chr15	64017608	64017608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatgccaccaagacaccGcccaataaggagagcaattg	9	12	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:64017608G>A	uc002amp.2	-	18	3599	c.3451C>T	c.(3451-3453)CGG>TGG	p.R1151W	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1151					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CCAAGACACCGCCCAATAAGG	0.507													A	64017608	G	A	64017608	3	1	266	1	0	0	0	0	1	0	0	0	7057	1086	38	1	11378	1	HERC1	15	64017608	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	11394962	64017608	38513784	116	132349											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118661	68118661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaacgcctgtgcaagtcGttcctgggcgagcacaaacc	12	14	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:68118661G>A	uc002aqy.1	+	2	468	c.468G>A	c.(466-468)TCG>TCA	p.S156S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	165					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						TGTGCAAGTCGTTCCTGGGCG	0.652													A	68118661	G	A	68118661	2	1	266	1	0	0	0	0	0	0	0	1	8655	1132	40	1		1	LBXCOR1	15	68118661	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	4101053	68118661	34412731	117	132350											
CYP1A1	1543	broad.mit.edu	37	chr15	75013993	75013993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacagctggacattggcGttctcatccagctgcttctc	9	13	3	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:75013993G>A	uc002ayp.3	-	3	1013	c.891C>T	c.(889-891)AAC>AAT	p.N297N	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Silent_p.N33N|CYP1A1_uc010bjx.2_Silent_p.N33N|CYP1A1_uc002ayq.3_Silent_p.N297N|CYP1A1_uc010bjy.2_Silent_p.N297N|CYP1A1_uc010bjz.1_Silent_p.N33N	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	297					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			ovary(2)|breast(2)|pancreas(1)	5					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)	GGACATTGGCGTTCTCATCCA	0.512									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				A	75013993	G	A	75013993	2	1	266	1	0	0	0	0	0	0	0	1	4149	1136	40	1		1	CYP1A1	15	75013993	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	6895332	75013993	27517399	118	132351											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84694085	84694085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggacaaaagccaatggaaCtgtgcaggtggtgtctccaa	13	9	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr15:84694085C>T	uc002bjz.3	+	27	4777	c.4553C>T	c.(4552-4554)ACT>ATT	p.T1518I	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T1518I|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T1518I	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1518	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCAATGGAACTGTGCAGGTG	0.537													T	84694085	C	T	84694085	3	4	266	1	0	0	0	0	1	0	0	0	276	565	20	4	4655	4	ADAMTSL3	15	84694085	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	9680092	84694085	17837307	119	132352											
KIAA0430	9665	broad.mit.edu	37	chr16	15715617	15715617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagagtgatttgctggcaGccccggtggcaagtgagacc	15	9	0	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:15715617G>T	uc002ddr.2	-	12	2805	c.2612C>A	c.(2611-2613)GCT>GAT	p.A871D	KIAA0430_uc002ddq.2_Missense_Mutation_p.A705D|KIAA0430_uc010uzv.1_Missense_Mutation_p.A867D|KIAA0430_uc010uzw.1_Missense_Mutation_p.A870D	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	870						peroxisome	nucleotide binding|RNA binding				0						TTTGCTGGCAGCCCCGGTGGC	0.398													T	15715617	G	T	15715617	3	4	266	1	0	0	0	0	1	0	0	0	8177	971	34	5	2680	5	KIAA0430	16	15715617	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		15715617	74639136	120	132353											
CACNG3	10368	broad.mit.edu	37	chr16	24372728	24372728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaacgccggagacccCgggcagcgtgactccaaaaa	11	15	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:24372728C>T	uc002dmf.2	+	4	1692	c.492C>T	c.(490-492)CCC>CCT	p.P164P		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	164					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				0				GBM - Glioblastoma multiforme(48;0.0809)		CCGGAGACCCCGGGCAGCGTG	0.458													T	24372728	C	T	24372728	2	4	266	1	0	0	0	0	0	0	0	1	2558	639	23	1		1	CACNG3	16	24372728	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	8657111	24372728	65982025	121	132354											
AQP8	343	broad.mit.edu	37	chr16	25232887	25232887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctcggggggatgctcGgggctgccttggccaaggtg	19	10	0	0	rs139054676		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:25232887G>A	uc002doc.2	+	3	452	c.370G>A	c.(370-372)GGG>AGG	p.G124R		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	124	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		GGGGATGCTCGGGGCTGCCTT	0.632													A	25232887	G	A	25232887	3	1	266	1	0	0	0	0	1	0	0	0	832	1116	39	1	380	1	AQP8	16	25232887	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	860159	25232887	65121866	122	132355											
PHKB	5257	broad.mit.edu	37	chr16	47533780	47533780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctatactgcgctgctgggGcctgggctttggctcttgca	14	12	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:47533780G>T	uc002eev.3	+	3	332	c.280G>T	c.(280-282)GCC>TCC	p.A94S	PHKB_uc010vgi.1_Missense_Mutation_p.A87S|PHKB_uc002eeu.3_Missense_Mutation_p.A87S	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	94					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGCTGCTGGGGCCTGGGCTTT	0.512													T	47533780	G	T	47533780	3	4	266	1	0	0	0	0	1	0	0	0	11845	1203	42	5	349	5	PHKB	16	47533780	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	22300893	47533780	42820973	123	132356											
ZNF423	23090	broad.mit.edu	37	chr16	49669760	49669760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggccacccacctgtccGttggcgctgcgggccatgca	13	17	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:49669760G>A	uc002efs.2	-	5	3601	c.3303C>T	c.(3301-3303)AAC>AAT	p.N1101N	ZNF423_uc010vgn.1_Silent_p.N984N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1101					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CCACCTGTCCGTTGGCGCTGC	0.687													A	49669760	G	A	49669760	2	1	266	1	0	0	0	0	0	0	0	1	17895	1136	40	1		1	ZNF423	16	49669760	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	2135980	49669760	40684993	124	132357											
C16orf57	79650	broad.mit.edu	37	chr16	58036513	58036513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgcgcaccttcccccacGagcgaggcaactgggccacc	13	17	0	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:58036513G>A	uc002emz.2	+	2	312	c.229G>A	c.(229-231)GAG>AAG	p.E77K	ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.E77K|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.E77K|C16orf57_uc010vic.1_Missense_Mutation_p.E26K	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	77											0						CTTCCCCCACGAGCGAGGCAA	0.587													A	58036513	G	A	58036513	3	1	266	1	0	0	0	0	1	0	0	0	1821	1059	37	1	235	1	C16orf57	16	58036513	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	8366753	58036513	32318240	125	132358											
PHLPP2	23035	broad.mit.edu	37	chr16	71689227	71689227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaagcacatctgccatcGtacactgcagcaggcgcggg	11	13	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:71689227G>A	uc002fax.2	-	16	2507	c.2501C>T	c.(2500-2502)ACG>ATG	p.T834M	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.T767M	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	834	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						ATCTGCCATCGTACACTGCAG	0.502													A	71689227	G	A	71689227	3	1	266	1	0	0	0	0	1	0	0	0	11855	1145	40	1	1482	1	PHLPP2	16	71689227	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	13652714	71689227	18665526	126	132359											
DHODH	1723	broad.mit.edu	37	chr16	72048403	72048403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggccataaattccgaaAtccagtaggaattgctgcag	10	9	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:72048403A>G	uc002fbp.2	+	3	287	c.266A>G	c.(265-267)AAT>AGT	p.N89S	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	89	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	AAATTCCGAAATCCAGTAGGA	0.418													G	72048403	A	G	72048403	3	3	266	1	0	0	0	0	1	0	0	0	4484	101	4	3	276	3	DHODH	16	72048403	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	359176	72048403	18306350	127	132360											
SDR42E1	93517	broad.mit.edu	37	chr16	82033056	82033056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccaaggtcaatggcaggCgggtagacgggaatgtgtag	17	6	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:82033056C>T	uc002fgu.2	-	3	970	c.842G>A	c.(841-843)CGC>CAC	p.R281H		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	281					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0						CAATGGCAGGCGGGTAGACGG	0.527													T	82033056	C	T	82033056	3	4	266	1	0	0	0	0	1	0	0	0	13973	768	27	1	343	1	SDR42E1	16	82033056	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	9984653	82033056	8321697	128	132361											
IRF8	3394	broad.mit.edu	37	chr16	85952271	85952271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctgctgcacagcagcCggcagggcgtgttcgtcaag	17	11	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:85952271C>T	uc002fjh.2	+	7	907	c.850C>T	c.(850-852)CGG>TGG	p.R284W	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	284					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)|ovary(1)	3		Prostate(104;0.0771)				GCACAGCAGCCGGCAGGGCGT	0.697													T	85952271	C	T	85952271	3	4	266	1	0	0	0	0	1	0	0	0	7836	643	23	1	872	1	IRF8	16	85952271	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	3919215	85952271	4402482	129	132362											
DPEP1	1800	broad.mit.edu	37	chr16	89696881	89696881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagacttctttcgggaCgaggcagagaggatcatgag	14	8	2	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr16:89696881C>T	uc010cin.2	+	2	266	c.63C>T	c.(61-63)GAC>GAT	p.D21D	DPEP1_uc002fnr.3_Silent_p.D21D|DPEP1_uc002fns.3_Silent_p.D21D	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	21					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	TCTTTCGGGACGAGGCAGAGA	0.582													T	89696881	C	T	89696881	2	4	266	1	0	0	0	0	0	0	0	1	4713	535	19	1		1	DPEP1	16	89696881	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	3744610	89696881	657872	130	132363											
TP53	7157	broad.mit.edu	37	chr17	7576928	7576928	+	Splice_Site	DEL	T	T	-													ctggtgttgttgggcagtgcTaggaaagaggcaaggaaagg							TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:7576927_7576927CT>C	uc002gim.2	-	9	1114	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)		TTGGGCAGTGCTAGGAAAGAG	0.493		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)			-	7576928	T	-	7576928	8	5	266	1	0	1	0	1	0	0	1	0	16378	1536	53	0	364	0	TP53	17	7576928	Splice_Site	DEL	T	TCGA-HU-A4GC-01A-12D-A25D-08		7576928	73618282	131	132364											
TRIM25	7706	broad.mit.edu	37	chr17	54978813	54978813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctcctggagccgcccgaTgcactgcttcagctcgtttt	12	14	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:54978813T>C	uc002iut.2	-	4	1114	c.1054A>G	c.(1054-1056)ATC>GTC	p.I352V	TRIM25_uc010dcj.2_Missense_Mutation_p.I144V	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	352	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					AGCCGCCCGATGCACTGCTTC	0.567													C	54978813	T	C	54978813	3	2	266	1	0	0	0	0	1	0	0	0	16496	1464	51	3	862	3	TRIM25	17	54978813	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	47401885	54978813	26216397	132	132365											
DDX42	11325	broad.mit.edu	37	chr17	61886998	61886998	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtgtttgatgaagcagatCgaatgtttgacatgggattt	12	3	0	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:61886998C>T	uc002jbu.2	+	12	1488	c.1231C>T	c.(1231-1233)CGA>TGA	p.R411*	DDX42_uc002jbv.2_Nonsense_Mutation_p.R411*|DDX42_uc002jbw.1_Nonsense_Mutation_p.R147*|DDX42_uc002jbx.2_Nonsense_Mutation_p.R147*|DDX42_uc002jby.2_5'Flank	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	411	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						TGAAGCAGATCGAATGTTTGA	0.368													T	61886998	C	T	61886998	4	4	266	1	0	0	0	0	0	1	0	0	4362	876	31	1	1269	1	DDX42	17	61886998	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	6908185	61886998	19308212	133	132366											
KCNJ2	3759	broad.mit.edu	37	chr17	68171214	68171214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccaaccgctacagcatcGtctcttcagaagaagacggt	9	12	2	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:68171214G>A	uc010dfg.2	+	2	435	c.34G>A	c.(34-36)GTC>ATC	p.V12I	KCNJ2_uc002jir.2_Missense_Mutation_p.V12I	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	12	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CTACAGCATCGTCTCTTCAGA	0.517													A	68171214	G	A	68171214	3	1	266	1	0	0	0	0	1	0	0	0	8051	1145	40	1	36	1	KCNJ2	17	68171214	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	6284216	68171214	13023996	134	132367											
SSTR2	6752	broad.mit.edu	37	chr17	71166296	71166296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatattcaacgtttcttccGtctccatggccatcagcccc	5	16	4	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr17:71166296G>A	uc002jje.2	+	2	1198	c.838G>A	c.(838-840)GTC>ATC	p.V280I		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	280	Extracellular (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			CGTTTCTTCCGTCTCCATGGC	0.512													A	71166296	G	A	71166296	3	1	266	1	0	0	0	0	1	0	0	0	15197	1145	40	1	840	1	SSTR2	17	71166296	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	2995082	71166296	10028914	135	132368											
CEP192	55125	broad.mit.edu	37	chr18	13056561	13056561	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcggctctggatggatgggTacctcttccctctgtaaccc	10	13	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr18:13056561T>A	uc010xac.1	+	19	4052	c.3972T>A	c.(3970-3972)GGT>GGA	p.G1324G	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.G849G|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.G1065G	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1324										ovary(4)|pancreas(1)	5						GATGGATGGGTACCTCTTCCC	0.478													A	13056561	T	A	13056561	2	1	266	1	0	0	0	0	0	0	0	1	3251	1625	57	5		5	CEP192	18	13056561	Silent	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08		13056561	65020687	136	132369											
CXXC1	30827	broad.mit.edu	37	chr18	47810386	47810386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctctcggcgaatgcgttCgagcagcttcttgccgtgct	12	13	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr18:47810386C>T	uc002leq.3	-	10	2024	c.1291G>A	c.(1291-1293)GAA>AAA	p.E431K	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E288K|CXXC1_uc002ler.3_Missense_Mutation_p.E435K|CXXC1_uc010doy.2_Missense_Mutation_p.E431K|CXXC1_uc002les.2_Missense_Mutation_p.E431K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	431	Potential.				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			upper_aerodigestive_tract(1)|ovary(1)	2						CGAATGCGTTCGAGCAGCTTC	0.592													T	47810386	C	T	47810386	3	4	266	1	0	0	0	0	1	0	0	0	4097	893	31	1	703	1	CXXC1	18	47810386	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	34753825	47810386	30266862	137	132370											
TCF3	6929	broad.mit.edu	37	chr19	1615407	1615407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccagctccttaaaggcctCgttgatgtcacggacccgca	9	16	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:1615407C>T	uc002ltr.2	-	18	1766	c.1699G>A	c.(1699-1701)GAG>AAG	p.E567K	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.E328K|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.E571K|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	567	Helix-loop-helix motif.				B cell lineage commitment|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|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|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		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)		TTAAAGGCCTCGTTGATGTCA	0.642			T	PBX1|HLF|TFPT	pre B-ALL								T	1615407	C	T	1615407	3	4	266	1	0	0	0	0	1	0	0	0	15691	893	31	1	504	1	TCF3	19	1615407	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		1615407	57513576	138	132371											
MUC16	94025	broad.mit.edu	37	chr19	9072872	9072872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggtaacatttggagaTgtgactttagatggctctgg	15	4	1	3			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:9072872T>C	uc002mkp.2	-	3	14778	c.14574A>G	c.(14572-14574)ACA>ACG	p.T4858T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4860	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CATTTGGAGATGTGACTTTAG	0.433													C	9072872	T	C	9072872	2	2	266	1	0	0	0	0	0	0	0	1	9973	1451	51	3		3	MUC16	19	9072872	Silent	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	7457465	9072872	50056111	139	132372											
DNM2	1785	broad.mit.edu	37	chr19	10934546	10934546	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaaggcctcgttcctcCgagctggcgtctaccccgag	13	15	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:10934546C>T	uc002mps.1	+	17	2028	c.1864C>T	c.(1864-1866)CGA>TGA	p.R622*	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Nonsense_Mutation_p.R622*|DNM2_uc002mpv.1_Nonsense_Mutation_p.R618*|DNM2_uc002mpu.1_Nonsense_Mutation_p.R618*|DNM2_uc010dxl.1_Nonsense_Mutation_p.R622*|DNM2_uc002mpw.2_Nonsense_Mutation_p.R351*|DNM2_uc002mpx.1_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	622	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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCGTTCCTCCGAGCTGGCGT	0.662													T	10934546	C	T	10934546	4	4	266	1	0	0	0	0	0	1	0	0	4672	644	23	1	2073	1	DNM2	19	10934546	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	1861674	10934546	48194437	140	132373											
SIGLEC5	8778	broad.mit.edu	37	chr19	52129341	52129341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattttctctggtctcccagCtgcttgcttcctgcgggctt	9	14	2	0	rs149285768		TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:52129341C>A	uc002pxe.2	-	8	1547	c.1408G>T	c.(1408-1410)GCT>TCT	p.A470S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	470	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGTCTCCCAGCTGCTTGCTTC	0.537													A	52129341	C	A	52129341	3	1	266	1	0	0	0	0	1	0	0	0	14311	797	28	5	255	5	SIGLEC5	19	52129341	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	41194795	52129341	6999642	141	132374											
ZNF578	147660	broad.mit.edu	37	chr19	53014774	53014774	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtgtggcaagatgttTggtcaaaattcaacccttgt	10	6	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:53014774T>C	uc002pzp.3	+	6	1384	c.1140T>C	c.(1138-1140)TTT>TTC	p.F380F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	155	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCAAGATGTTTGGTCAAAATT	0.378													C	53014774	T	C	53014774	2	2	266	1	0	0	0	0	0	0	0	1	18007	1809	63	3		3	ZNF578	19	53014774	Silent	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	885433	53014774	6114209	142	132375											
NLRP2	55655	broad.mit.edu	37	chr19	55494431	55494431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgagcctcctggccgcGcagggcctgtgggcgcagac	16	15	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr19:55494431G>A	uc002qij.2	+	6	1451	c.1365G>A	c.(1363-1365)GCG>GCA	p.A455A	NLRP2_uc010yfp.1_Silent_p.A432A|NLRP2_uc010esn.2_Silent_p.A431A|NLRP2_uc010eso.2_Silent_p.A452A|NLRP2_uc010esp.2_Silent_p.A433A	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	455	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCCTGGCCGCGCAGGGCCTGT	0.701													A	55494431	G	A	55494431	2	1	266	1	0	0	0	0	0	0	0	1	10477	1074	38	1		1	NLRP2	19	55494431	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	2479657	55494431	3634552	143	132376											
ZCCHC3	85364	broad.mit.edu	37	chr20	279294	279294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcaggacaggtgcttcaGgtgcggggaggaggggcacc	19	10	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:279294G>A	uc002wdf.2	+	2	1088	c.1064G>A	c.(1063-1065)AGG>AAG	p.R355K	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	356	CCHC-type 2.						nucleic acid binding|zinc ion binding				0		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)			AGGTGCTTCAGGTGCGGGGAG	0.617													A	279294	G	A	279294	3	1	266	1	0	0	0	0	1	0	0	0	17586	1000	35	4	1069	4	ZCCHC3	20	279294	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		279294	62746226	144	132377											
SDCBP2	27111	broad.mit.edu	37	chr20	1293318	1293318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccacccagcacagtcaCgcccgtcaatctgcaggagc	9	17	3	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:1293318C>T	uc002wev.3	-	6	602	c.473G>A	c.(472-474)CGT>CAT	p.R158H	SDCBP2_uc002weu.3_Missense_Mutation_p.R73H	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	158	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						AGCACAGTCACGCCCGTCAAT	0.612													T	1293318	C	T	1293318	3	4	266	1	0	0	0	0	1	0	0	0	13956	536	19	1	421	1	SDCBP2	20	1293318	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	1014024	1293318	61732202	145	132378											
SEL1L2	80343	broad.mit.edu	37	chr20	13856737	13856737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagcgttattttgcggcaCggcagcattcccctctaaat	9	11	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:13856737C>T	uc010gcf.2	-	12	1133	c.1051G>A	c.(1051-1053)GTG>ATG	p.V351M	SEL1L2_uc002woq.3_Missense_Mutation_p.V212M|SEL1L2_uc010zrl.1_Missense_Mutation_p.V351M|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	351	Extracellular (Potential).|Sel1-like 6.					integral to membrane	binding			ovary(2)	2						TTTTGCGGCACGGCAGCATTC	0.318													T	13856737	C	T	13856737	3	4	266	1	0	0	0	0	1	0	0	0	14011	536	19	1	1051	1	SEL1L2	20	13856737	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	12563419	13856737	49168783	146	132379											
L3MBTL	26013	broad.mit.edu	37	chr20	42164925	42164925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggaagaagcctcgccAtcacggccggtatggaggcc	13	14	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:42164925A>G	uc010zwh.1	+	18	2094	c.2048A>G	c.(2047-2049)CAT>CGT	p.H683R	L3MBTL_uc002xkl.2_Missense_Mutation_p.H615R|L3MBTL_uc002xkm.2_Missense_Mutation_p.H615R|L3MBTL_uc010ggl.2_Missense_Mutation_p.H620R|L3MBTL_uc002xkn.1_Missense_Mutation_p.H374R|L3MBTL_uc002xko.2_Missense_Mutation_p.H267R	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	615					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGCCTCGCCATCACGGCCGG	0.632													G	42164925	A	G	42164925	3	3	266	1	0	0	0	0	1	0	0	0	8591	217	8	3	1902	3	L3MBTL	20	42164925	Missense_Mutation	SNP	A	TCGA-HU-A4GC-01A-12D-A25D-08	28308188	42164925	20860595	147	132380											
SLC12A5	57468	broad.mit.edu	37	chr20	44666018	44666018	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcctgggcaccatcgaaatCctgctggtaagagaggctga	12	10	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:44666018C>A	uc010zxl.1	+	6	751	c.675C>A	c.(673-675)ATC>ATA	p.I225I	SLC12A5_uc002xra.2_Silent_p.I202I|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.I202I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	225	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCATCGAAATCCTGCTGGTAA	0.438													A	44666018	C	A	44666018	2	1	266	1	0	0	0	0	0	0	0	1	14386	845	30	5		5	SLC12A5	20	44666018	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	2501093	44666018	18359502	148	132381											
SLC12A5	57468	broad.mit.edu	37	chr20	44669249	44669249	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcgacccacccaacTtcccgtgagtgctgctgctc	8	18	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:44669249T>G	uc010zxl.1	+	7	995	c.919T>G	c.(919-921)TTC>GTC	p.F307V	SLC12A5_uc002xra.2_Missense_Mutation_p.F284V|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.F284V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	307	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCACCCAACTTCCCGTGAGT	0.567													G	44669249	T	G	44669249	3	3	266	1	0	0	0	0	1	0	0	0	14386	1609	56	5	1001	5	SLC12A5	20	44669249	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	3231	44669249	18356271	149	132382											
EYA2	2139	broad.mit.edu	37	chr20	45812032	45812032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagaggagcaaggagCgaaaaaggtacttcttccac	13	7	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:45812032C>T	uc002xsm.2	+	15	1903	c.1529C>T	c.(1528-1530)GCG>GTG	p.A510V	EYA2_uc010ghp.2_Missense_Mutation_p.A431V|EYA2_uc002xsn.2_Missense_Mutation_p.A515V|EYA2_uc002xso.2_Missense_Mutation_p.A510V|EYA2_uc002xsp.2_Missense_Mutation_p.A510V|EYA2_uc002xsq.2_Missense_Mutation_p.A480V	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	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			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				gagcaaggagcgaaaaaggta	0.403													T	45812032	C	T	45812032	3	4	266	1	0	0	0	0	1	0	0	0	5329	768	27	1	1583	1	EYA2	20	45812032	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	1142783	45812032	17213488	150	132383											
GNAS	2778	broad.mit.edu	37	chr20	57428503	57428503	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaacgagcccatccccgtCgagaatgatggcgaggcctg	12	14	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:57428503C>T	uc002xzw.2	+	1	468	c.183C>T	c.(181-183)GTC>GTT	p.V61V	GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCATCCCCGTCGAGAATGATG	0.637			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57428503	C	T	57428503	2	4	266	1	0	0	0	0	0	0	0	1	6510	871	31	1		1	GNAS	20	57428503	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	11616471	57428503	5597017	151	132384											
ZNF831	128611	broad.mit.edu	37	chr20	57766605	57766605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcccgtgtgccacctgCggcatcgcctttaagaccca	8	18	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:57766605C>T	uc002yan.2	+	1	531	c.531C>T	c.(529-531)TGC>TGT	p.C177C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	177	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GTGCCACCTGCGGCATCGCCT	0.632													T	57766605	C	T	57766605	2	4	266	1	0	0	0	0	0	0	0	1	18182	776	27	1		1	ZNF831	20	57766605	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	338102	57766605	5258915	152	132385											
CHRNA4	1137	broad.mit.edu	37	chr20	61981615	61981615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctggctcgggccagaagCgcggggcactggccatctta	14	13	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr20:61981615C>T	uc002yes.2	-	5	1326	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	CHRNA4_uc002yet.1_Missense_Mutation_p.R207H|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R312H|CHRNA4_uc002yev.1_Missense_Mutation_p.R207H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R207H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	383	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGCCAGAAGCGCGGGGCACT	0.672													T	61981615	C	T	61981615	3	4	266	1	0	0	0	0	1	0	0	0	3385	768	27	1	743	1	CHRNA4	20	61981615	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	4215010	61981615	1043905	153	132386											
DSCAM	1826	broad.mit.edu	37	chr21	41711215	41711215	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgactgccacccttgagaatCgggtcatcgtccagggtcca	11	13	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr21:41711215C>T	uc002yyq.1	-	7	1790	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	446	Extracellular (Potential).|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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTGAGAATCGGGTCATCGT	0.582													T	41711215	C	T	41711215	2	4	266	1	0	0	0	0	0	0	0	1	4768	871	31	1		1	DSCAM	21	41711215	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		41711215	6418680	154	132387											
TRPM2	7226	broad.mit.edu	37	chr21	45811283	45811283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaccttgctctacctgtaCgagaacctggacccctcctg	8	16	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr21:45811283C>T	uc002zet.1	+	12	1782	c.1569C>T	c.(1567-1569)TAC>TAT	p.Y523Y	TRPM2_uc002zeu.1_Silent_p.Y523Y|TRPM2_uc002zew.1_Silent_p.Y523Y|TRPM2_uc010gpt.1_Silent_p.Y523Y|TRPM2_uc002zex.1_Silent_p.Y309Y|TRPM2_uc002zey.1_Silent_p.Y36Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	523	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCTACCTGTACGAGAACCTGG	0.522													T	45811283	C	T	45811283	2	4	266	1	0	0	0	0	0	0	0	1	16583	547	19	1		1	TRPM2	21	45811283	Silent	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	4100068	45811283	2318612	155	132388											
MICAL3	57553	broad.mit.edu	37	chr22	18300777	18300777	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcttctcggggcgcggCcagcaggacgggggcgtgaa	20	11	1	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:18300777C>T	uc002zng.3	-	26	5003	c.4650G>A	c.(4648-4650)TGG>TGA	p.W1550*	MICAL3_uc011agl.1_Nonsense_Mutation_p.W1466*|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1550						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CGGGGCGCGGCCAGCAGGACG	0.637													T	18300777	C	T	18300777	4	4	266	1	0	0	0	0	0	1	0	0	9571	740	26	2	1386	2	MICAL3	22	18300777	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08		18300777	33003789	156	132389											
GNB1L	54584	broad.mit.edu	37	chr22	19808157	19808157	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggcagcgtctgcagcCaggtcacacactggccgccg	14	16	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:19808157C>T	uc002zqe.1	-	3	612	c.218G>A	c.(217-219)TGG>TAG	p.W73*	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Nonsense_Mutation_p.W73*	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	73	WD 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CGTCTGCAGCCAGGTCACACA	0.642													T	19808157	C	T	19808157	4	4	266	1	0	0	0	0	0	1	0	0	6516	595	21	4	785	4	GNB1L	22	19808157	Nonsense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	1507380	19808157	31496409	157	132390											
PATZ1	23598	broad.mit.edu	37	chr22	31741404	31741404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgactcaaagtactcgctgCaggcggccagcacggcgcgg	14	15	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:31741404C>T	uc003akq.2	-	1	846	c.185G>A	c.(184-186)TGC>TAC	p.C62Y	PATZ1_uc003akp.2_Missense_Mutation_p.C62Y|PATZ1_uc003akr.2_Missense_Mutation_p.C62Y|PATZ1_uc003aks.2_Missense_Mutation_p.C62Y|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	62	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						GTACTCGCTGCAGGCGGCCAG	0.692													T	31741404	C	T	31741404	3	4	266	1	0	0	0	0	1	0	0	0	11476	710	25	2	2181	2	PATZ1	22	31741404	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	11933247	31741404	19563162	158	132391											
FOXRED2	80020	broad.mit.edu	37	chr22	36892110	36892110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccggtcatcaaagaagaCgtccttgtcggggccagaga	13	10	2	4			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:36892110C>T	uc003apn.3	-	6	1636	c.1528G>A	c.(1528-1530)GTC>ATC	p.V510I	FOXRED2_uc003apm.3_Missense_Mutation_p.V62I|FOXRED2_uc003apo.3_Missense_Mutation_p.V510I|FOXRED2_uc003app.3_Missense_Mutation_p.V510I	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	510					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						TCAAAGAAGACGTCCTTGTCG	0.527													T	36892110	C	T	36892110	3	4	266	1	0	0	0	0	1	0	0	0	6034	536	19	1	538	1	FOXRED2	22	36892110	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	5150706	36892110	14412456	159	132392											
MKL1	57591	broad.mit.edu	37	chr22	40831511	40831511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtaccttaccctggcccGctccaagctccttctctgct	7	17	1	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:40831511G>A	uc003ayv.1	-	2	262	c.55C>T	c.(55-57)CGG>TGG	p.R19W	MKL1_uc003ayw.1_Missense_Mutation_p.R19W|MKL1_uc010gye.1_Missense_Mutation_p.R19W|MKL1_uc010gyf.1_Missense_Mutation_p.R19W	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	19	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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ACCCTGGCCCGCTCCAAGCTC	0.448			T	RBM15	acute megakaryocytic leukemia								A	40831511	G	A	40831511	3	1	266	1	0	0	0	0	1	0	0	0	9601	1086	38	1	2784	1	MKL1	22	40831511	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	3939401	40831511	10473055	160	132393											
ZC3H7B	23264	broad.mit.edu	37	chr22	41726091	41726091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgcgagttcgcaaggCgtataagaggccccaggtag	17	9	0	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:41726091C>T	uc003azw.2	+	6	725	c.509C>T	c.(508-510)GCG>GTG	p.A170V	ZC3H7B_uc003azv.1_Missense_Mutation_p.A170V|ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	170					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GTTCGCAAGGCGTATAAGAGG	0.632													T	41726091	C	T	41726091	3	4	266	1	0	0	0	0	1	0	0	0	17570	768	27	1	527	1	ZC3H7B	22	41726091	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	894580	41726091	9578475	161	132394											
SBF1	6305	broad.mit.edu	37	chr22	50904463	50904463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcacacactcaggaatgGtgaccgtccctccatccaga	9	14	1	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chr22:50904463G>A	uc003blh.2	-	9	1133	c.938C>T	c.(937-939)ACC>ATC	p.T313I	SBF1_uc011arx.1_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.T314I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	313					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		CTCAGGAATGGTGACCGTCCC	0.617													A	50904463	G	A	50904463	3	1	266	1	0	0	0	0	1	0	0	0	13858	1261	44	4	4875	4	SBF1	22	50904463	Missense_Mutation	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	9178372	50904463	400103	162	132395											
KLHL34	257240	broad.mit.edu	37	chrX	21675868	21675868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagccggtgagcagcgcGccgccatgagctttgcagta	15	11	0	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:21675868G>A	uc004czz.1	-	1	581	c.39C>T	c.(37-39)GGC>GGT	p.G13G		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	13										ovary(1)	1						TGAGCAGCGCGCCGCCATGAG	0.662													A	21675868	G	A	21675868	2	1	266	1	0	0	0	0	0	0	0	1	8387	1074	38	1		1	KLHL34	23	21675868	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08		21675868	133594692	163	132396											
NAP1L3	4675	broad.mit.edu	37	chrX	92926799	92926799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacttattttctgtatttcTtgtttccataatgtttgcca	5	7	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:92926799T>C	uc004efq.2	-	1	1810	c.1505A>G	c.(1504-1506)AAG>AGG	p.K502R	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	502					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TCTGTATTTCTTGTTTCCATA	0.318													C	92926799	T	C	92926799	3	2	266	1	0	0	0	0	1	0	0	0	10158	1609	56	3	19	3	NAP1L3	23	92926799	Missense_Mutation	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	71250931	92926799	62343761	164	132397											
KIAA1210	57481	broad.mit.edu	37	chrX	118239097	118239097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgagtcggcgtcggCgcgatggtgggttctgtcaa	17	8	2	2			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:118239097C>T	uc004era.3	-	7	926	c.926G>A	c.(925-927)CGC>CAC	p.R309H		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	309										ovary(4)|skin(1)	5						TCGGCGTCGGCGCGATGGTGG	0.413													T	118239097	C	T	118239097	3	4	266	1	0	0	0	0	1	0	0	0	8214	768	27	1	4235	1	KIAA1210	23	118239097	Missense_Mutation	SNP	C	TCGA-HU-A4GC-01A-12D-A25D-08	25312298	118239097	37031463	165	132398											
GPR112	139378	broad.mit.edu	37	chrX	135430104	135430104	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcatatggccaggatacTtcatttgtagataccacaac	7	10	2	1			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:135430104T>G	uc004ezu.1	+	6	4530	c.4239T>G	c.(4237-4239)ACT>ACG	p.T1413T	GPR112_uc010nsb.1_Silent_p.T1208T|GPR112_uc010nsc.1_Silent_p.T1180T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1413	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GCCAGGATACTTCATTTGTAG	0.428													G	135430104	T	G	135430104	2	3	266	1	0	0	0	0	0	0	0	1	6629	1596	56	5		5	GPR112	23	135430104	Silent	SNP	T	TCGA-HU-A4GC-01A-12D-A25D-08	17191007	135430104	19840456	166	132399											
UBL4A	8266	broad.mit.edu	37	chrX	153713953	153713953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccaaccgttcgatgtcGtccagcgtcaggcgactcag	12	14	2	0			TCGA-HU-A4GC-01A-12D-A25D-08	TCGA-HU-A4GC-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df673ef5-5935-432a-923c-963d4727b36c	91d82e57-a018-445f-adb3-f60013cf42c5	g.chrX:153713953G>A	uc004flo.2	-	4	408	c.399C>T	c.(397-399)GAC>GAT	p.D133D		NM_014235	NP_055050	P11441	UBL4A_HUMAN	ubiquitin-like 4	133					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity				0	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)					GTTCGATGTCGTCCAGCGTCA	0.592													A	153713953	G	A	153713953	2	1	266	1	0	0	0	0	0	0	0	1	16884	1136	40	1		1	UBL4A	23	153713953	Silent	SNP	G	TCGA-HU-A4GC-01A-12D-A25D-08	18283849	153713953	1556607	167	132400											
FBLIM1	54751	broad.mit.edu	37	chr1	16101285	16101285	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtactgcctggacgactTctacaggtacgagaagggtt	14	8	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:16101285T>G	uc001axd.1	+	8	1327	c.884T>G	c.(883-885)TTC>TGC	p.F295C	FBLIM1_uc001axe.1_Missense_Mutation_p.F295C|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.F295C|FBLIM1_uc001axh.1_Missense_Mutation_p.F198C|FBLIM1_uc001axi.1_Missense_Mutation_p.F198C	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	295	PLEKHC1-binding.|LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CTGGACGACTTCTACAGGTAC	0.622													G	16101285	T	G	16101285	3	3	267	1	0	0	0	0	1	0	0	0	5697	1783	62	5	902	5	FBLIM1	1	16101285	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08		16101285	233149336	1	132401											
MRTO4	51154	broad.mit.edu	37	chr1	19583562	19583562	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttgcttggtaggatgTtctttggcaaaaacaaggtg	11	6	2	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:19583562T>A	uc001bbs.2	+	4	451	c.196T>A	c.(196-198)TTC>ATC	p.F66I		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	66					ribosome biogenesis	nuclear membrane|nucleolus					0		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)		TGGTAGGATGTTCTTTGGCAA	0.537													A	19583562	T	A	19583562	3	1	267	1	0	0	0	0	1	0	0	0	9852	1725	60	5	210	5	MRTO4	1	19583562	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08	3482277	19583562	229667059	2	132402											
PPIE	10450	broad.mit.edu	37	chr1	40208945	40208945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttggccaaaccaatgagaAttaaggaaggctcttccagg	10	8	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:40208945A>G	uc001cds.1	+	5	302	c.259A>G	c.(259-261)ATT>GTT	p.I87V	PPIE_uc001cdt.1_Missense_Mutation_p.I21V|PPIE_uc010oiy.1_Missense_Mutation_p.I21V|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.I87V|PPIE_uc001cdw.2_Missense_Mutation_p.I87V|PPIE_uc001cdx.1_Missense_Mutation_p.I3V	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	87					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACCAATGAGAATTAAGGAAGG	0.408													G	40208945	A	G	40208945	3	3	267	1	0	0	0	0	1	0	0	0	12322	101	4	3	277	3	PPIE	1	40208945	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08	20625383	40208945	209041676	3	132403											
RBMXL1	494115	broad.mit.edu	37	chr1	89448701	89448701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgatctgaatagtcaCgatcacgaccatatccatct	7	10	4	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:89448701C>T	uc009wcx.2	-	3	1525	c.809G>A	c.(808-810)CGT>CAT	p.R270H	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.R270H	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	270							nucleotide binding|RNA binding				0						TGAATAGTCACGATCACGACC	0.468													T	89448701	C	T	89448701	3	4	267	1	0	0	0	0	1	0	0	0	13153	536	19	1	367	1	RBMXL1	1	89448701	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	49239756	89448701	159801920	4	132404											
ECM1	1893	broad.mit.edu	37	chr1	150483401	150483401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catccagaacctgagtcctgGaatgcagcccagcactgcca	9	15	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483401G>A	uc001eus.2	+	6	634	c.435G>A	c.(433-435)TGG>TGA	p.W145*	ECM1_uc010pce.1_Nonsense_Mutation_p.W74*|ECM1_uc010pcf.1_Nonsense_Mutation_p.W67*|ECM1_uc001eut.2_Nonsense_Mutation_p.W145*|ECM1_uc001euu.2_Nonsense_Mutation_p.W174*|ECM1_uc001euv.2_Nonsense_Mutation_p.W172*|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	145					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			ovary(2)|central_nervous_system(1)	3	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)			CTGAGTCCTGGAATGCAGCCC	0.617													A	150483401	G	A	150483401	4	1	267	1	0	0	0	0	0	1	0	0	4897	1183	41	4	457	4	ECM1	1	150483401	Nonsense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	61034700	150483401	98767220	5	132405			1	62		6	6	901	G		1.321427e-15
ECM1	1893	broad.mit.edu	37	chr1	150483459	150483459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggggctggggccaccggctgGatggcttcccccctgggcgg	19	14	0	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483459G>C	uc001eus.2	+	6	692	c.493G>C	c.(493-495)GAT>CAT	p.D165H	ECM1_uc010pce.1_Missense_Mutation_p.D94H|ECM1_uc010pcf.1_Missense_Mutation_p.D87H|ECM1_uc001eut.2_Missense_Mutation_p.D165H|ECM1_uc001euu.2_Missense_Mutation_p.D194H|ECM1_uc001euv.2_Missense_Mutation_p.D192H|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	165	2 X approximate repeats.|1.				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			ovary(2)|central_nervous_system(1)	3	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)			CCACCGGCTGGATGGCTTCCC	0.602													C	150483459	G	C	150483459	3	2	267	1	0	0	0	0	1	0	0	0	4897	1174	41	5	515	5	ECM1	1	150483459	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	58	150483459	98767162	6	132406			1	62		6	6	901	G		1.321427e-15
ECM1	1893	broad.mit.edu	37	chr1	150483497	150483497	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggccttctccagacaatctGaaccaaatctgccttcctaa	5	15	3	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483497G>A	uc001eus.2	+	6	730	c.531G>A	c.(529-531)CTG>CTA	p.L177L	ECM1_uc010pce.1_Silent_p.L106L|ECM1_uc010pcf.1_Silent_p.L99L|ECM1_uc001eut.2_Silent_p.L177L|ECM1_uc001euu.2_Silent_p.L206L|ECM1_uc001euv.2_Silent_p.L204L|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	177	2 X approximate repeats.|1.				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			ovary(2)|central_nervous_system(1)	3	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)			CAGACAATCTGAACCAAATCT	0.617													A	150483497	G	A	150483497	2	1	267	1	0	0	0	0	0	0	0	1	4897	1277	45	4		4	ECM1	1	150483497	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	38	150483497	98767124	7	132407			1	62		6	6	901	G		1.321427e-15
ECM1	1893	broad.mit.edu	37	chr1	150483588	150483588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccacctcactcgccagggtGagaccctcaatttcctggag	9	16	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150483588G>A	uc001eus.2	+	6	821	c.622G>A	c.(622-624)GAG>AAG	p.E208K	ECM1_uc010pce.1_Missense_Mutation_p.E137K|ECM1_uc010pcf.1_Missense_Mutation_p.E130K|ECM1_uc001eut.2_Missense_Mutation_p.E208K|ECM1_uc001euu.2_Missense_Mutation_p.E237K|ECM1_uc001euv.2_Missense_Mutation_p.E235K|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	208	2 X approximate repeats.|1.				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			ovary(2)|central_nervous_system(1)	3	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)			TCGCCAGGGTGAGACCCTCAA	0.537													A	150483588	G	A	150483588	3	1	267	1	0	0	0	0	1	0	0	0	4897	1291	45	4	644	4	ECM1	1	150483588	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	91	150483588	98767033	8	132408			1	62		6	6	901	G		1.321427e-15
ECM1	1893	broad.mit.edu	37	chr1	150484238	150484238	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagggagctgctggcactGatccagctggagagggagtt	16	8	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150484238G>A	uc001eus.2	+	7	1213	c.1014G>A	c.(1012-1014)CTG>CTA	p.L338L	ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Silent_p.L367L|ECM1_uc001euv.2_Silent_p.L365L|ECM1_uc009wlu.2_Silent_p.L98L	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	338	2 X approximate repeats.|2.				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			ovary(2)|central_nervous_system(1)	3	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)			TGCTGGCACTGATCCAGCTGG	0.602													A	150484238	G	A	150484238	2	1	267	1	0	0	0	0	0	0	0	1	4897	1277	45	4		4	ECM1	1	150484238	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	650	150484238	98766383	9	132409			1	62		6	6	901	G		1.321427e-15
ECM1	1893	broad.mit.edu	37	chr1	150484301	150484301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aacaatcacacctgtacatgGaaggccgtaagtgggcgtcc	11	11	1	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:150484301G>T	uc001eus.2	+	7	1276	c.1077G>T	c.(1075-1077)TGG>TGT	p.W359C	ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.W388C|ECM1_uc001euv.2_Missense_Mutation_p.W386C|ECM1_uc009wlu.2_Missense_Mutation_p.W119C	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	359	2 X approximate repeats.|2.				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			ovary(2)|central_nervous_system(1)	3	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)			CCTGTACATGGAAGGCCGTAA	0.612													T	150484301	G	T	150484301	3	4	267	1	0	0	0	0	1	0	0	0	4897	1183	41	5	1103	5	ECM1	1	150484301	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	63	150484301	98766320	10	132410			1	62		6	6	901	G		1.321427e-15
ATP8B2	57198	broad.mit.edu	37	chr1	154316453	154316453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaggagtgggctgagcgaCgcctccaggccagcctggcc	16	14	0	1	rs140373193	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:154316453C>T	uc001fex.2	+	18	1942	c.1942C>T	c.(1942-1944)CGC>TGC	p.R648C		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	634	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCTGAGCGACGCCTCCAGGC	0.627													T	154316453	C	T	154316453	3	4	267	1	0	0	0	0	1	0	0	0	1195	536	19	1	2142	1	ATP8B2	1	154316453	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	3832152	154316453	94934168	11	132411											
QSOX1	5768	broad.mit.edu	37	chr1	180158716	180158716	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccggcccttagtccagaaCttcctgcactccgtgaatga	10	14	0	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr1:180158716C>G	uc001gnz.2	+	9	1122	c.1047C>G	c.(1045-1047)AAC>AAG	p.N349K	QSOX1_uc001gny.2_Missense_Mutation_p.N349K|QSOX1_uc001goa.2_Missense_Mutation_p.N349K	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	349					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						TAGTCCAGAACTTCCTGCACT	0.502													G	180158716	C	G	180158716	3	3	267	1	0	0	0	0	1	0	0	0	12883	564	20	5	1081	5	QSOX1	1	180158716	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	25842263	180158716	69091905	12	132412											
NBAS	51594	broad.mit.edu	37	chr2	15607529	15607529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccttttgttccagtgtcAacctgttttgaataactatg	7	8	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:15607529A>G	uc002rcc.1	-	19	2047	c.2021T>C	c.(2020-2022)TTG>TCG	p.L674S	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	674										ovary(2)|liver(1)|skin(1)	4						TTCCAGTGTCAACCTGTTTTG	0.333													G	15607529	A	G	15607529	3	3	267	1	0	0	0	0	1	0	0	0	10186	131	5	3	5230	3	NBAS	2	15607529	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08		15607529	227591844	13	132413											
GDF7	151449	broad.mit.edu	37	chr2	20870856	20870856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgcgggccggggccacGggcgcaggggccggagccgc	24	14	0	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:20870856G>A	uc002rdz.1	+	2	1600	c.1024G>A	c.(1024-1026)GGG>AGG	p.G342R		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	342					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ccggggccacgggcgcagggg	0.552													A	20870856	G	A	20870856	3	1	267	1	0	0	0	0	1	0	0	0	6318	1116	39	1	1030	1	GDF7	2	20870856	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	5263327	20870856	222328517	14	132414											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500827	27500827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggaatatatctgtatgatCactttggtgaagaaggcgtc	12	5	2	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:27500827C>T	uc002rjl.1	+	4	737	c.319C>T	c.(319-321)CAC>TAC	p.H107Y	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.H107Y	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	107					protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGTATGATCACTTTGGTGA	0.398													T	27500827	C	T	27500827	3	4	267	1	0	0	0	0	1	0	0	0	4652	826	29	4	325	4	DNAJC5G	2	27500827	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	6629971	27500827	215698546	15	132415											
ACTR1B	10120	broad.mit.edu	37	chr2	98275089	98275089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctagaaccactcctgtcGtgcgtcctgttgcgtacctg	10	13	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:98275089G>A	uc002syb.2	-	6	666	c.458C>T	c.(457-459)ACG>ATG	p.T153M		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	153						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1						CACTCCTGTCGTGCGTCCTGT	0.612													A	98275089	G	A	98275089	3	1	267	1	0	0	0	0	1	0	0	0	210	1145	40	1	696	1	ACTR1B	2	98275089	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	70774262	98275089	144924284	16	132416											
NCK2	8440	broad.mit.edu	37	chr2	106497824	106497824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccagcgcgcgggatgcGtcccccacgcccagcacgga	13	17	0	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:106497824G>A	uc002tdg.2	+	4	709	c.267G>A	c.(265-267)GCG>GCA	p.A89A	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.A89A	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	89					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	p.D89Y(1)		ovary(1)|lung(1)	2						CGCGGGATGCGTCCCCCACGC	0.672													A	106497824	G	A	106497824	2	1	267	1	0	0	0	0	0	0	0	1	10220	1132	40	1		1	NCK2	2	106497824	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	8222735	106497824	136701549	17	132417											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460276	107460276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctgcttcccctgcaccGgcaggagcctcctggtctcc	10	20	1	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:107460276G>A	uc002tdq.2	-	2	277	c.158C>T	c.(157-159)CCG>CTG	p.P53L	ST6GAL2_uc002tdr.2_Missense_Mutation_p.P53L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P53L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	53	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CCCCTGCACCGGCAGGAGCCT	0.682													A	107460276	G	A	107460276	3	1	267	1	0	0	0	0	1	0	0	0	15221	1116	39	1	1538	1	ST6GAL2	2	107460276	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	962452	107460276	135739097	18	132418											
TTN	7273	broad.mit.edu	37	chr2	179408680	179408680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttagcaatgagtagctctcaGtggtgtcaataattgcccgg	11	8	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:179408680G>C	uc010zfg.1	-	295	88711	c.88487C>G	c.(88486-88488)ACT>AGT	p.T29496S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T23191S|TTN_uc010zfi.1_Missense_Mutation_p.T23124S|TTN_uc010zfj.1_Missense_Mutation_p.T22999S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30423							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGCTCTCAGTGGTGTCAAT	0.458													C	179408680	G	C	179408680	3	2	267	1	0	0	0	0	1	0	0	0	16732	1029	36	5	11856	5	TTN	2	179408680	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	71948404	179408680	63790693	19	132419											
ANKAR	150709	broad.mit.edu	37	chr2	190584318	190584326	+	In_Frame_Del	DEL	AATCTATTA	AATCTATTA	-													gcaccattcctgccttaatcAatctattaaaaagttccaaa							TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:190584318_190584326delAATCTATTA	uc002uqw.1	+	10	2032_2040	c.2032_2040delAATCTATTA	c.(2032-2040)AATCTATTAdel	p.NLL678del	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	749_751	ARM 1.					integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCTTAATCAATCTATTAAAAAGTTCCA	0.349													-	190584326	AATCTATTA	-	190584318	7	5	267	1	0	1	0	1	0	0	0	0	623	130	5	0	2283	0	ANKAR	2	190584318	In_Frame_Del	DEL	AATCTATTA	TCGA-HU-A4GD-01A-11D-A25D-08	11175638	190584318	52615055	20	132420											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285091	217285091	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcctatggcagcagcgagtCaccctccaccagcagtgagg	13	14	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:217285091C>A	uc002vgc.3	+	5	1262	c.932C>A	c.(931-933)TCA>TAA	p.S311*	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.S311*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.S311*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	311					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			ovary(3)|breast(3)|skin(1)	7		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)		AGCAGCGAGTCACCCTCCACC	0.572									Schimke_Immuno-Osseous_Dysplasia				A	217285091	C	A	217285091	4	1	267	1	0	0	0	0	0	1	0	0	14773	838	29	5	942	5	SMARCAL1	2	217285091	Nonsense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	26700773	217285091	25914282	21	132421											
COL6A3	1293	broad.mit.edu	37	chr2	238303696	238303696	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgtgggtttccgttgaactgGaccagagcaaaatggaaatc	12	7	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr2:238303696G>C	uc002vwl.2	-	3	528	c.243C>G	c.(241-243)GTC>GTG	p.V81V	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.V81V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	81	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CGTTGAACTGGACCAGAGCAA	0.393													C	238303696	G	C	238303696	2	2	267	1	0	0	0	0	0	0	0	1	3701	1161	41	5		5	COL6A3	2	238303696	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	21018605	238303696	4895677	22	132422											
RRP9	9136	broad.mit.edu	37	chr3	51969657	51969657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attccacaccttcacggagcGatcgtgggatgtgctgtaga	12	10	1	1	rs140029162	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:51969657G>A	uc003dbw.1	-	9	826	c.787C>T	c.(787-789)CGC>TGC	p.R263C		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	263	WD 3.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTCACGGAGCGATCGTGGGAT	0.602													A	51969657	G	A	51969657	3	1	267	1	0	0	0	0	1	0	0	0	13691	1058	37	1	668	1	RRP9	3	51969657	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08		51969657	146052773	23	132423											
DNAH1	25981	broad.mit.edu	37	chr3	52426963	52426963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtccgacctggccaacGtggaccccatgtaccagtac	11	14	0	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:52426963G>A	uc011bef.1	+	65	10657	c.10396G>A	c.(10396-10398)GTG>ATG	p.V3466M	DNAH1_uc003ddv.2_Missense_Mutation_p.V324M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3531					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			large_intestine(3)	3				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)		CCTGGCCAACGTGGACCCCAT	0.582													A	52426963	G	A	52426963	3	1	267	1	0	0	0	0	1	0	0	0	4597	1145	40	1	10650	1	DNAH1	3	52426963	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	457306	52426963	145595467	24	132424											
RG9MTD1	54931	broad.mit.edu	37	chr3	101283802	101283802	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagtacacccccttctgaAgagctagagttggataagtg	12	8	1	4			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:101283802A>G	uc003duz.2	+	2	325	c.177A>G	c.(175-177)GAA>GAG	p.E59E		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	59					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						CCCCTTCTGAAGAGCTAGAGT	0.373													G	101283802	A	G	101283802	2	3	267	1	0	0	0	0	0	0	0	1	13271	69	3	3		3	RG9MTD1	3	101283802	Silent	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08	48856839	101283802	96738628	25	132425											
PARP14	54625	broad.mit.edu	37	chr3	122419782	122419782	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgctgggcagaagtgcttctCtcggacagtcttggcccctg	13	13	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:122419782C>T	uc003efq.3	+	6	2440	c.2381C>T	c.(2380-2382)TCT>TTT	p.S794F	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.S511F|PARP14_uc003efs.1_Missense_Mutation_p.S511F	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	794	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AAGTGCTTCTCTCGGACAGTC	0.512													T	122419782	C	T	122419782	3	4	267	1	0	0	0	0	1	0	0	0	11458	913	32	4	2403	4	PARP14	3	122419782	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	21135980	122419782	75602648	26	132426											
SMC4	10051	broad.mit.edu	37	chr3	160143940	160143941	+	Frame_Shift_Ins	INS	-	-	A													acttgctacagcccctgacaINSaaaaaaagcagaaattgcta							TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:160143939_160143940C>CA	uc003fdh.3	+	16	2669_2670	c.2556_2557C>CA	c.(2554-2559)gacaaafs	p.D852fs	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Frame_Shift_Ins_p.D827fs|SMC4_uc003fdj.3_Frame_Shift_Ins_p.D852fs|SMC4_uc010hwd.3_Frame_Shift_Ins_p.D852fs|SMC4_uc003fdl.3_Frame_Shift_Ins_p.D555fs	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	852					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)			CAGCCCCTGACAAAAAAAAGCA	0.322													A	160143941	-	A	160143940	7	5	267	1	0	1	1	0	0	0	0	0	14785	131	5	0	2619	0	SMC4	3	160143940	Frame_Shift_Ins	INS	-	TCGA-HU-A4GD-01A-11D-A25D-08	37724158	160143940	37878490	27	132427											
DGKG	1608	broad.mit.edu	37	chr3	185997678	185997678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccagcaatgggatggTggtcatccctccatggaccc	13	12	1	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr3:185997678T>C	uc003fqa.2	-	9	1291	c.754A>G	c.(754-756)ACC>GCC	p.T252A	DGKG_uc003fqb.2_Missense_Mutation_p.T252A|DGKG_uc003fqc.2_Missense_Mutation_p.T252A|DGKG_uc011brx.1_Missense_Mutation_p.T252A	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	252	EF-hand 2.				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(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	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)	AATGGGATGGTGGTCATCCCT	0.502													C	185997678	T	C	185997678	3	2	267	1	0	0	0	0	1	0	0	0	4469	1696	59	3	1689	3	DGKG	3	185997678	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08	25853738	185997678	12024752	28	132428											
NDST3	9348	broad.mit.edu	37	chr4	118975431	118975431	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatctcccagtgcttatagaCaaaatgaaaggcaaatacat	7	8	1	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr4:118975431C>G	uc003ibx.2	+	2	769	c.366C>G	c.(364-366)GAC>GAG	p.D122E	NDST3_uc011cgf.1_Missense_Mutation_p.D122E|NDST3_uc003ibw.2_Missense_Mutation_p.D122E	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	122	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						TGCTTATAGACAAAATGAAAG	0.338													G	118975431	C	G	118975431	3	3	267	1	0	0	0	0	1	0	0	0	10257	477	17	5	368	5	NDST3	4	118975431	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		118975431	72178845	29	132429											
TNIP3	79931	broad.mit.edu	37	chr4	122071373	122071373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcaaggcatcctgaagaGcctacgtaataagataagta	8	7	1	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr4:122071373G>A	uc010ing.2	-	6	690	c.494C>T	c.(493-495)GCT>GTT	p.A165V	TNIP3_uc010inh.2_Missense_Mutation_p.A165V|TNIP3_uc011cgj.1_Missense_Mutation_p.A223V	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	165	Potential.									ovary(1)	1						ATCCTGAAGAGCCTACGTAAT	0.373													A	122071373	G	A	122071373	3	1	267	1	0	0	0	0	1	0	0	0	16313	985	34	2	507	2	TNIP3	4	122071373	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	3095942	122071373	69082903	30	132430											
VEGFC	7424	broad.mit.edu	37	chr4	177713378	177713378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccggactcgaaggcggCggcggcggcgggcgcctcgc	20	14	0	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr4:177713378C>T	uc003ius.1	-	1	518	c.88G>A	c.(88-90)GCC>ACC	p.A30T		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	30					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			lung(5)	5		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)		TCGAAggcggcggcggcggcg	0.577													T	177713378	C	T	177713378	3	4	267	1	0	0	0	0	1	0	0	0	17149	768	27	1	1202	1	VEGFC	4	177713378	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	55642005	177713378	13440898	31	132431											
NSUN2	54888	broad.mit.edu	37	chr5	6620357	6620357	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagcctcttggcttgaTggacgagcaggtagcagcgc	14	11	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:6620357T>C	uc003jdu.2	-	7	742	c.677A>G	c.(676-678)CAT>CGT	p.H226R	NSUN2_uc003jdt.2_5'UTR|NSUN2_uc011cmk.1_Missense_Mutation_p.H191R|NSUN2_uc003jdv.2_5'UTR	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	226						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						CTTGGCTTGATGGACGAGCAG	0.527													C	6620357	T	C	6620357	3	2	267	1	0	0	0	0	1	0	0	0	10678	1464	51	3	1678	3	NSUN2	5	6620357	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08		6620357	174294903	32	132432											
CARD6	84674	broad.mit.edu	37	chr5	40853094	40853095	+	Frame_Shift_Ins	INS	-	-	T													ggaagtttcttcagctgtgtINStttttttcactgactgttta							TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:40853093_40853094G>GT	uc003jmg.3	+	2	1734_1735	c.1659_1660G>GT	c.(1657-1662)gtgtttfs	p.V553fs		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	553					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						CTTCAGCTGTGTTTTTTTTCAC	0.416													T	40853095	-	T	40853094	7	5	267	1	0	1	1	0	0	0	0	0	2650	1725	60	0	1670	0	CARD6	5	40853094	Frame_Shift_Ins	INS	-	TCGA-HU-A4GD-01A-11D-A25D-08	34232737	40853094	140062166	33	132433											
SLCO4C1	353189	broad.mit.edu	37	chr5	101572693	101572693	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagattgcaaatccattgaAgaacatggtgataactttac	7	6	0	4			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:101572693A>C	uc003knm.2	-	13	2331	c.2044T>G	c.(2044-2046)TTC>GTC	p.F682V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	682	Helical; Name=12; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		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)		AATCCATTGAAGAACATGGTG	0.299													C	101572693	A	C	101572693	3	2	267	1	0	0	0	0	1	0	0	0	14730	72	3	5	134	5	SLCO4C1	5	101572693	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08	60719599	101572693	79342567	34	132434											
SPOCK1	6695	broad.mit.edu	37	chr5	136328253	136328253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaaccaatccttcagcCgggaggcaaggttccgcaac	9	15	1	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:136328253C>T	uc003lbo.2	-	6	817	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	SPOCK1_uc003lbp.2_Missense_Mutation_p.R209Q	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	209					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCTTCAGCCGGGAGGCAAG	0.532													T	136328253	C	T	136328253	3	4	267	1	0	0	0	0	1	0	0	0	15078	652	23	1	713	1	SPOCK1	5	136328253	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	34755560	136328253	44587007	35	132435											
C1QTNF2	114898	broad.mit.edu	37	chr5	159781800	159781800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgctgtccccccggtcGccgtcgtgtccatcttggcc	10	19	2	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:159781800G>A	uc003lyd.2	-	2	358	c.354C>T	c.(352-354)GGC>GGT	p.G118G		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	73	Collagen-like.					collagen				skin(1)	1	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)			CCCCCCGGTCGCCGTCGTGTC	0.652													A	159781800	G	A	159781800	2	1	267	1	0	0	0	0	0	0	0	1	1963	1074	38	1		1	C1QTNF2	5	159781800	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	23453547	159781800	21133460	36	132436											
ERGIC1	57222	broad.mit.edu	37	chr5	172315710	172315710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctccacaggtttgacaTctacaggaaggtgcccaagg	11	11	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr5:172315710T>G	uc003mbw.3	+	2	223	c.29T>G	c.(28-30)ATC>AGC	p.I10S		NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate	10	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			skin(2)|ovary(1)	3	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)			AGGTTTGACATCTACAGGAAG	0.577													G	172315710	T	G	172315710	3	3	267	1	0	0	0	0	1	0	0	0	5223	1435	50	5	35	5	ERGIC1	5	172315710	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08	12533910	172315710	8599550	37	132437											
CYP21A2	1589	broad.mit.edu	37	chr6	31974830	31974830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggctgaagcaggccaTagagaagagggaccacaacg	15	10	0	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:31974830T>C	uc010jtp.2	+	7	810	c.692T>C	c.(691-693)ATA>ACA	p.I231T	CYP21A2_uc011dpb.1_Missense_Mutation_p.I201T			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	230			I -> T (in AH3).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						AAGCAGGCCATAGAGAAGAGG	0.622													C	31974830	T	C	31974830	3	2	267	1	0	0	0	0	1	0	0	0	4153	1406	49	3	706	3	CYP21A2	6	31974830	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08		31974830	139140237	38	132438											
ITPR3	3710	broad.mit.edu	37	chr6	33638124	33638124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagctgaagctctttgccCgcatgtgcttggaccgccag	11	14	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:33638124C>T	uc011drk.1	+	19	2431	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	738	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GCTCTTTGCCCGCATGTGCTT	0.607													T	33638124	C	T	33638124	3	4	267	1	0	0	0	0	1	0	0	0	7922	652	23	1	2286	1	ITPR3	6	33638124	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	1663294	33638124	137476943	39	132439											
DNAH8	1769	broad.mit.edu	37	chr6	38950205	38950205	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagtgttcagtttatTcagaatcaccttgatgaatg	8	8	4	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:38950205T>G	uc003ooe.1	+	84	12867	c.12267T>G	c.(12265-12267)ATT>ATG	p.I4089M	DNAH8_uc003oog.1_Missense_Mutation_p.I538M	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTCAGTTTATTCAGAATCACC	0.363													G	38950205	T	G	38950205	3	3	267	1	0	0	0	0	1	0	0	0	4607	1771	62	5	12593	5	DNAH8	6	38950205	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08	5312081	38950205	132164862	40	132440											
GUCA1A	2978	broad.mit.edu	37	chr6	42146128	42146128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgatgtagatggcaaCggctgcattgaccgcgatga	12	9	1	4			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:42146128C>T	uc003orx.2	+	4	957	c.312C>T	c.(310-312)AAC>AAT	p.N104N	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Silent_p.N104N	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	104	EF-hand 3.|2 (Potential).				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGATGGCAACGGCTGCATTG	0.602													T	42146128	C	T	42146128	2	4	267	1	0	0	0	0	0	0	0	1	6888	535	19	1		1	GUCA1A	6	42146128	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	3195923	42146128	128968939	41	132441											
AKAP12	9590	broad.mit.edu	37	chr6	151672866	151672866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaagggaaggtggtggggCagaccaccccagaaagcttt	14	10	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr6:151672866C>A	uc011eep.1	+	4	3580	c.3340C>A	c.(3340-3342)CAG>AAG	p.Q1114K	AKAP12_uc003qoe.2_Missense_Mutation_p.Q1114K|AKAP12_uc003qof.2_Missense_Mutation_p.Q1016K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.Q1009K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1114					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTGGTGGGGCAGACCACCCC	0.502													A	151672866	C	A	151672866	3	1	267	1	0	0	0	0	1	0	0	0	448	711	25	5	3379	5	AKAP12	6	151672866	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	109526738	151672866	19442201	42	132442											
NCF1	653361	broad.mit.edu	37	chr7	74197927	74197927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcgtccttcctcgagCccctggacagtcctgacgag	10	17	0	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr7:74197927C>A	uc003ubb.2	+	7	704	c.634C>A	c.(634-636)CCC>ACC	p.P212T	NCF1_uc010lbs.1_3'UTR|NCF1_uc011kfh.1_3'UTR	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	212	Asp/Glu-rich (highly acidic).|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			skin(1)	1						CTTCCTCGAGCCCCTGGACAG	0.637													A	74197927	C	A	74197927	3	1	267	1	0	0	0	0	1	0	0	0	10216	739	26	5	660	5	NCF1	7	74197927	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		74197927	84940736	43	132443											
PCLO	27445	broad.mit.edu	37	chr7	82387999	82387999	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaccaatcaaggtctttttCataaacttccctccattgga	4	12	4	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr7:82387999C>T	uc003uhx.2	-	25	15610	c.15321G>A	c.(15319-15321)ATG>ATA	p.M5107I		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5030	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGGTCTTTTTCATAAACTTCC	0.328													T	82387999	C	T	82387999	3	4	267	1	0	0	0	0	1	0	0	0	11583	826	29	4	111	4	PCLO	7	82387999	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	8190072	82387999	76750664	44	132444											
GIMAP6	474344	broad.mit.edu	37	chr7	150324850	150324850	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcatctgtgggcttcctcaGattccttctggatctgggac	12	11	4	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr7:150324850G>A	uc003whn.2	-	3	1260	c.836C>T	c.(835-837)TCT>TTT	p.S279F	GIMAP6_uc003whm.2_Missense_Mutation_p.S199F	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	279							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTTCCTCAGATTCCTTCTG	0.572													A	150324850	G	A	150324850	3	1	267	1	0	0	0	0	1	0	0	0	6383	942	33	4	46	4	GIMAP6	7	150324850	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	67936851	150324850	8813813	45	132445											
RP1L1	94137	broad.mit.edu	37	chr8	10473978	10473978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtttcttgaagtcagCccagataaagtttcagcctc	7	9	3	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:10473978C>T	uc003wtc.2	-	3	958	c.729G>A	c.(727-729)GGG>GGA	p.G243G		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	243					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TTGAAGTCAGCCCAGATAAAG	0.527													T	10473978	C	T	10473978	2	4	267	1	0	0	0	0	0	0	0	1	13533	726	26	2		2	RP1L1	8	10473978	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		10473978	135890044	46	132446											
UBXN2B	137886	broad.mit.edu	37	chr8	59359985	59359985	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actttattgtacagtctcgtCctgaatttgcggctcttgac	8	10	2	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:59359985C>G	uc003xtl.2	+	8	993	c.871C>G	c.(871-873)CCT>GCT	p.P291A		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	291	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2						ACAGTCTCGTCCTGAATTTGC	0.333													G	59359985	C	G	59359985	3	3	267	1	0	0	0	0	1	0	0	0	16912	855	30	5	901	5	UBXN2B	8	59359985	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	48886007	59359985	87004037	47	132447											
PKIA	5569	broad.mit.edu	37	chr8	79510755	79510755	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccttgaaattagcaggtcttGatatcaacaagacaggtaag	9	7	2	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:79510755G>C	uc003yba.2	+	3	660	c.136G>C	c.(136-138)GAT>CAT	p.D46H	PKIA_uc003ybb.2_Missense_Mutation_p.D46H|PKIA_uc010lzo.2_Missense_Mutation_p.D46H	NM_006823	NP_006814	P61925	IPKA_HUMAN	cAMP-dependent protein kinase inhibitor alpha	46							cAMP-dependent protein kinase inhibitor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGCAGGTCTTGATATCAACAA	0.413													C	79510755	G	C	79510755	3	2	267	1	0	0	0	0	1	0	0	0	11973	1290	45	5	138	5	PKIA	8	79510755	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	20150770	79510755	66853267	48	132448											
PKHD1L1	93035	broad.mit.edu	37	chr8	110448585	110448585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtactctactgacttTatctggatttggctttaatg	10	6	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:110448585T>C	uc003yne.2	+	30	3628	c.3524T>C	c.(3523-3525)TTA>TCA	p.L1175S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1175	Extracellular (Potential).|IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTACTGACTTTATCTGGATTT	0.323										HNSCC(38;0.096)			C	110448585	T	C	110448585	3	2	267	1	0	0	0	0	1	0	0	0	11972	1764	61	3	3642	3	PKHD1L1	8	110448585	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08	30937830	110448585	35915437	49	132449											
SLC30A8	169026	broad.mit.edu	37	chr8	118183401	118183401	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taattctctcagctcatgttGctacaggtcagtgagttttg	9	8	4	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:118183401G>T	uc003yoh.2	+	7	1188	c.958G>T	c.(958-960)GCT>TCT	p.A320S	SLC30A8_uc010mcz.2_Missense_Mutation_p.A271S|SLC30A8_uc011lia.1_Missense_Mutation_p.A271S|SLC30A8_uc003yog.2_Missense_Mutation_p.A271S	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	320	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCTCATGTTGCTACAGGTCA	0.428													T	118183401	G	T	118183401	3	4	267	1	0	0	0	0	1	0	0	0	14561	1319	46	5	984	5	SLC30A8	8	118183401	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	7734816	118183401	28180621	50	132450											
TOP1MT	116447	broad.mit.edu	37	chr8	144399936	144399936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagagtgatggaggcGttgtaggtccggaacacctt	14	9	0	2	rs143974988	by1000genomes	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr8:144399936G>A	uc003yxz.2	-	10	1306	c.1287C>T	c.(1285-1287)AAC>AAT	p.N429N	TOP1MT_uc011lkd.1_Silent_p.N331N|TOP1MT_uc011lke.1_Silent_p.N331N|TOP1MT_uc010mfb.2_Silent_p.N331N|TOP1MT_uc011lkf.1_Silent_p.N224N	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	429					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	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)	TGATGGAGGCGTTGTAGGTCC	0.647													A	144399936	G	A	144399936	2	1	267	1	0	0	0	0	0	0	0	1	16361	1136	40	1		1	TOP1MT	8	144399936	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	26216535	144399936	1964086	51	132451											
CNTLN	54875	broad.mit.edu	37	chr9	17236494	17236494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaagaaattaagtaccCgctgcactgacctgctaaat	6	10	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:17236494C>T	uc003zmz.2	+	5	783	c.757C>T	c.(757-759)CGC>TGC	p.R253C	CNTLN_uc003zmx.3_Missense_Mutation_p.R253C|CNTLN_uc003zmy.2_Missense_Mutation_p.R253C|CNTLN_uc010mio.2_5'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	253						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTAAGTACCCGCTGCACTGA	0.373													T	17236494	C	T	17236494	3	4	267	1	0	0	0	0	1	0	0	0	3639	652	23	1	775	1	CNTLN	9	17236494	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		17236494	123976937	52	132452											
TRPM3	80036	broad.mit.edu	37	chr9	73442845	73442845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatattttccagtggtcccGttgtcagccagaatgaagtg	10	10	1	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:73442845G>A	uc004aid.2	-	6	1135	c.891C>T	c.(889-891)AAC>AAT	p.N297N	TRPM3_uc004ahu.2_Silent_p.N127N|TRPM3_uc004ahv.2_Silent_p.N127N|TRPM3_uc004ahw.2_Silent_p.N144N|TRPM3_uc004ahx.2_Silent_p.N144N|TRPM3_uc004ahy.2_Silent_p.N144N|TRPM3_uc004ahz.2_Silent_p.N144N|TRPM3_uc004aia.2_Silent_p.N144N|TRPM3_uc004aib.2_Silent_p.N144N|TRPM3_uc004aic.2_Silent_p.N297N|TRPM3_uc010mor.2_Silent_p.N297N|TRPM3_uc004aie.2_Silent_p.N144N|TRPM3_uc004aif.2_Silent_p.N144N|TRPM3_uc004aig.2_Silent_p.N144N|TRPM3_uc004aii.2_Silent_p.N299N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	297	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CAGTGGTCCCGTTGTCAGCCA	0.473													A	73442845	G	A	73442845	2	1	267	1	0	0	0	0	0	0	0	1	16584	1136	40	1		1	TRPM3	9	73442845	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	56206351	73442845	67770586	53	132453											
INVS	27130	broad.mit.edu	37	chr9	102988399	102988399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagcaaactggatgcaaaAggatctggaagagatgactc	12	7	1	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:102988399A>G	uc004bap.1	+	4	541	c.329A>G	c.(328-330)AAG>AGG	p.K110R	INVS_uc010mta.1_Missense_Mutation_p.K14R|INVS_uc011lve.1_Missense_Mutation_p.K14R|INVS_uc004bao.1_Missense_Mutation_p.K110R|INVS_uc004baq.1_Missense_Mutation_p.K14R|INVS_uc004bar.1_Missense_Mutation_p.K14R|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	110	ANK 3.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				TGGATGCAAAAGGATCTGGAA	0.423													G	102988399	A	G	102988399	3	3	267	1	0	0	0	0	1	0	0	0	7787	72	3	3	339	3	INVS	9	102988399	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08	29545554	102988399	38225032	54	132454											
FCN1	2219	broad.mit.edu	37	chr9	137801728	137801728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagttgataccattggcataGctctcatggggtcccatgag	11	10	1	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr9:137801728G>T	uc004cfi.2	-	9	989	c.897C>A	c.(895-897)AGC>AGA	p.S299R		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	299	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGGCATAGCTCTCATGGG	0.542													T	137801728	G	T	137801728	3	4	267	1	0	0	0	0	1	0	0	0	5791	962	34	5	87	5	FCN1	9	137801728	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	34813329	137801728	3411703	55	132455											
ZNF33B	7582	broad.mit.edu	37	chr10	43127820	43127820	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactagggtccaggtgctgcCactcctcctgggtgaagccc	13	14	0	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr10:43127820C>G	uc001jaf.1	-	3	192	c.77G>C	c.(76-78)TGG>TCG	p.W26S	ZNF33B_uc009xmg.1_Missense_Mutation_p.W26S|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_5'UTR	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	26	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAGGTGCTGCCACTCCTCCTG	0.468													G	43127820	C	G	43127820	3	3	267	1	0	0	0	0	1	0	0	0	17852	595	21	5	2271	5	ZNF33B	10	43127820	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		43127820	92406927	56	132456											
ARFIP2	23647	broad.mit.edu	37	chr11	6499103	6499103	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctctaagtctgttcGgtaggcatcatattccagcc	8	13	3	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:6499103G>A	uc001mdk.2	-	7	852	c.715C>T	c.(715-717)CGA>TGA	p.R239*	ARFIP2_uc001mdl.2_Nonsense_Mutation_p.R239*|ARFIP2_uc010ral.1_Nonsense_Mutation_p.R201*|ARFIP2_uc010ram.1_Nonsense_Mutation_p.R145*|ARFIP2_uc010ran.1_Nonsense_Mutation_p.R272*|ARFIP2_uc001mdm.2_RNA	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	239	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGTCTGTTCGGTAGGCATCA	0.547													A	6499103	G	A	6499103	4	1	267	1	0	0	0	0	0	1	0	0	855	1124	39	1	318	1	ARFIP2	11	6499103	Nonsense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08		6499103	128507413	57	132457											
OR2AG2	338755	broad.mit.edu	37	chr11	6789325	6789325	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttattcctcaggctgtagatGagtggattcagggctggagt	14	6	2	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:6789325G>A	uc001meq.1	-	1	864	c.864C>T	c.(862-864)CTC>CTT	p.L288L		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCTGTAGATGAGTGGATTCA	0.498													A	6789325	G	A	6789325	2	1	267	1	0	0	0	0	0	0	0	1	10985	1277	45	4		4	OR2AG2	11	6789325	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	290222	6789325	128217191	58	132458											
IMMP1L	196294	broad.mit.edu	37	chr11	31484782	31484782	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagccatattgaatagtataGccaacaagtcgaaaggtttt	8	7	0	1	rs150556583	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:31484782G>C	uc001msy.1	-	3	238	c.42C>G	c.(40-42)GGC>GGG	p.G14G	IMMP1L_uc001msz.1_Silent_p.G14G|IMMP1L_uc009yjo.2_Silent_p.G14G|IMMP1L_uc009yjp.2_Intron	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	14					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					GAATAGTATAGCCAACAAGTC	0.363													C	31484782	G	C	31484782	2	2	267	1	0	0	0	0	0	0	0	1	7716	958	34	5		5	IMMP1L	11	31484782	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	24695457	31484782	103521734	59	132459											
OR4C15	81309	broad.mit.edu	37	chr11	55322167	55322167	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggatgcgtgcttctcatctGtcatcaccccaaagatgatt	8	11	4	2	rs137989357	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:55322167G>C	uc010rig.1	+	1	385	c.385G>C	c.(385-387)GTC>CTC	p.V129L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTCTCATCTGTCATCACCCC	0.468										HNSCC(20;0.049)			C	55322167	G	C	55322167	3	2	267	1	0	0	0	0	1	0	0	0	11048	1377	48	5	387	5	OR4C15	11	55322167	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	23837385	55322167	79684349	60	132460											
RDX	5962	broad.mit.edu	37	chr11	110106915	110106915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattcagcaagttctgctGcctaaagtaaacaatataat	6	7	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:110106915G>A	uc001pku.2	-	12	1563	c.1253C>T	c.(1252-1254)GCA>GTA	p.A418V	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.A418V|RDX_uc009yxz.2_Missense_Mutation_p.A71V|RDX_uc009yya.2_Intron|RDX_uc001pks.2_5'UTR|RDX_uc001pkt.2_Missense_Mutation_p.A72V|RDX_uc010rwe.1_Missense_Mutation_p.A282V	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	418	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-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;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		AAGTTCTGCTGCCTAAAGTAA	0.328													A	110106915	G	A	110106915	3	1	267	1	0	0	0	0	1	0	0	0	13198	1333	46	2	510	2	RDX	11	110106915	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	54784748	110106915	24899601	61	132461											
APLP2	334	broad.mit.edu	37	chr11	130011397	130011397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgactgtttcaggtcaTtgacgagactctggatgtta	10	8	4	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:130011397T>C	uc010sby.1	+	16	2121	c.1964T>C	c.(1963-1965)ATT>ACT	p.I655T	APLP2_uc001qfp.2_Missense_Mutation_p.I643T|APLP2_uc001qfq.2_Missense_Mutation_p.I587T|APLP2_uc010sbz.1_Missense_Mutation_p.I443T|APLP2_uc001qfr.2_Missense_Mutation_p.I409T|APLP2_uc001qfs.2_Missense_Mutation_p.I414T|APLP2_uc001qfv.2_Missense_Mutation_p.I546T|APLP2_uc009zcv.2_Missense_Mutation_p.I3T	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	655	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		TTTCAGGTCATTGACGAGACT	0.493													C	130011397	T	C	130011397	3	2	267	1	0	0	0	0	1	0	0	0	779	1493	52	3	2026	3	APLP2	11	130011397	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08	19904482	130011397	4995119	62	132462											
OPCML	4978	broad.mit.edu	37	chr11	133402211	133402211	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagacgacccagtaggcaggAtggtacatctcgacgctgcg	13	11	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr11:133402211A>T	uc001qgu.2	-	1	193	c.9T>A	c.(7-9)CAT>CAA	p.H3Q		NM_001012393	NP_001012393	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	Error:Variant_position_missing_in_Q14982_after_alignment					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	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)		AGTAGGCAGGATGGTACATCT	0.488													T	133402211	A	T	133402211	3	4	267	1	0	0	0	0	1	0	0	0	10874	330	12	5	1121	5	OPCML	11	133402211	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08	3390814	133402211	1604305	63	132463											
TAS2R42	353164	broad.mit.edu	37	chr12	11338799	11338800	+	Frame_Shift_Ins	INS	-	-	A													ccattggccacttgtaaggaINSaaaaaaatgaactatgaaga							TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:11338798_11338799G>GA	uc001qzr.1	-	0	745_746	c.745_746C>TC	c.(745-747)tccfs	p.S249fs	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	249					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)			CACTTGTAAGGAAAAAAAATGA	0.421													A	11338800	-	A	11338799	7	5	267	1	0	1	1	0	0	0	0	0	15577	246	9	0	203	0	TAS2R42	12	11338799	Frame_Shift_Ins	INS	-	TCGA-HU-A4GD-01A-11D-A25D-08		11338799	122513096	64	132464											
UNG	7374	broad.mit.edu	37	chr12	109536374	109536374	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agactcgcggcccgcaacgtGcccgtgggctttggagagag	16	12	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:109536374G>C	uc001tnz.1	+	2	340	c.270G>C	c.(268-270)GTG>GTC	p.V90V	UNG_uc001toa.1_Silent_p.V81V	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	90					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			lung(1)|central_nervous_system(1)	2						CCCGCAACGTGCCCGTGGGCT	0.607								BER_DNA_glycosylases	Immune_Deficiency_with_Hyper-IgM				C	109536374	G	C	109536374	2	2	267	1	0	0	0	0	0	0	0	1	16996	1306	46	5		5	UNG	12	109536374	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	98197575	109536374	24315521	65	132465											
GCN1L1	10985	broad.mit.edu	37	chr12	120572458	120572458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcaggcgcaccccccGgttggagtcctgcagggctt	14	15	1	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:120572458G>A	uc001txo.2	-	52	7094	c.7081C>T	c.(7081-7083)CGG>TGG	p.R2361W		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2361	HEAT 21.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCACCCCCCGGTTGGAGTCC	0.597													A	120572458	G	A	120572458	3	1	267	1	0	0	0	0	1	0	0	0	6299	1115	39	1	962	1	GCN1L1	12	120572458	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	11036084	120572458	13279437	66	132466											
EIF2B1	1967	broad.mit.edu	37	chr12	124107237	124107237	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaagagccggacaaacttGaaactttctgcaaccacata	8	10	1	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr12:124107237G>A	uc001ufm.2	-	8	842	c.699C>T	c.(697-699)TTC>TTT	p.F233F	EIF2B1_uc001ufn.2_Silent_p.F231F	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	233					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGACAAACTTGAAACTTTCTG	0.423													A	124107237	G	A	124107237	2	1	267	1	0	0	0	0	0	0	0	1	5000	1281	45	4		4	EIF2B1	12	124107237	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	3534779	124107237	9744658	67	132467											
F10	2159	broad.mit.edu	37	chr13	113783898	113783898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcatacgaagaggcccGcgaggtctttgaggacagcg	14	11	2	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr13:113783898G>A	uc001vsx.2	+	2	260	c.203G>A	c.(202-204)CGC>CAC	p.R68H	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.R68H|F10_uc001vsz.2_Missense_Mutation_p.R68H	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	68	Gla.				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			pancreas(1)	1	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)	GAAGAGGCCCGCGAGGTCTTT	0.592													A	113783898	G	A	113783898	3	1	267	1	0	0	0	0	1	0	0	0	5336	1087	38	1	209	1	F10	13	113783898	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08		113783898	1385980	68	132468											
GPHN	10243	broad.mit.edu	37	chr14	67610161	67610161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagggggtgtatccatggggGaaaaggtatgaaagataggg	18	3	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr14:67610161G>A	uc001xiy.2	+	17	2853	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K	GPHN_uc001xix.2_Missense_Mutation_p.E611K|GPHN_uc010tss.1_Missense_Mutation_p.E624K|GPHN_uc010tst.1_Missense_Mutation_p.E547K|GPHN_uc010tsu.1_Missense_Mutation_p.E501K	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	578	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCCATGGGGGAAAAGGTATG	0.428			T	MLL	AL								A	67610161	G	A	67610161	3	1	267	1	0	0	0	0	1	0	0	0	6610	1175	41	4	1901	4	GPHN	14	67610161	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08		67610161	39739379	69	132469											
SIVA1	10572	broad.mit.edu	37	chr14	105223068	105223068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctggggctgcggctcCgtggcctgtaccctgtgtgg	16	13	0	0	rs139604480		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr14:105223068C>T	uc001yph.2	+	3	510	c.441C>T	c.(439-441)TCC>TCT	p.S147S	INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Silent_p.S147S|SIVA1_uc001ypg.1_3'UTR|SIVA1_uc001ypi.2_Silent_p.S82S	NM_006427	NP_006418	O15304	SIVA_HUMAN	CD27-binding (Siva) protein isoform 1	147					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				0		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)		GCTGCGGCTCCGTGGCCTGTA	0.657													T	105223068	C	T	105223068	2	4	267	1	0	0	0	0	0	0	0	1	14345	639	23	1		1	SIVA1	14	105223068	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	37612907	105223068	2126472	70	132470											
PGBD4	161779	broad.mit.edu	37	chr15	34394921	34394921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttagaatctgatggaaagagCtctacatcaagtgactcagg	10	7	4	4			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr15:34394921C>G	uc001zho.2	+	1	648	c.189C>G	c.(187-189)AGC>AGG	p.S63R	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	63											0		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)		ATGGAAAGAGCTCTACATCAA	0.398													G	34394921	C	G	34394921	3	3	267	1	0	0	0	0	1	0	0	0	11783	796	28	5	191	5	PGBD4	15	34394921	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		34394921	68136471	71	132471											
PDP2	57546	broad.mit.edu	37	chr16	66919617	66919617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccacgcggctgatcagacAtgccatcgggaacaatgagt	12	11	1	3			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr16:66919617A>G	uc002eqk.1	+	2	1592	c.1430A>G	c.(1429-1431)CAT>CGT	p.H477R		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	477					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTGATCAGACATGCCATCGGG	0.597													G	66919617	A	G	66919617	3	3	267	1	0	0	0	0	1	0	0	0	11686	217	8	3	1432	3	PDP2	16	66919617	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08		66919617	23435136	72	132472											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445923	87445923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttattattgcagggggcaCacttatttgcacattattag	9	6	0	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr16:87445923C>T	uc002fjz.1	-	12	2020	c.1993G>A	c.(1993-1995)GTG>ATG	p.V665M	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.V441M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	665					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCAGGGGGCACACTTATTTGC	0.537													T	87445923	C	T	87445923	3	4	267	1	0	0	0	0	1	0	0	0	17580	478	17	4	864	4	ZCCHC14	16	87445923	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	20526306	87445923	2908830	73	132473											
SCARF1	8578	broad.mit.edu	37	chr17	1542118	1542118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgtccttgaggtctgatCggggggcccagcagcagcag	15	12	1	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:1542118C>T	uc002fsz.1	-	8	1396	c.1346G>A	c.(1345-1347)CGA>CAA	p.R449Q	SCARF1_uc002fsy.1_Missense_Mutation_p.R449Q|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R363Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	449	Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAGGTCTGATCGGGGGGCCCA	0.667													T	1542118	C	T	1542118	3	4	267	1	0	0	0	0	1	0	0	0	13883	884	31	1	1162	1	SCARF1	17	1542118	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		1542118	79653092	74	132474											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	12	10	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:7578265A>T	uc002gim.2	-	6	778	c.584T>A	c.(583-585)ATC>AAC	p.I195N	TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.2_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.1_Missense_Mutation_p.I156N	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; 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).|I -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TTCCACTCGGATAAGATGCTG	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7578265	A	T	7578265	3	4	267	1	0	0	0	0	1	0	0	0	16378	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08	6036147	7578265	73616945	75	132475											
SEBOX	645832	broad.mit.edu	37	chr17	26692243	26692243	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggctgtgcccacaccagaCccccccatttgggttttatc	8	16	0	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:26692243C>G	uc010wai.1	-	1	23	c.9G>C	c.(7-9)GGG>GGC	p.G3G	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Intron|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	3					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCACACCAGACCCCCCCATTT	0.617													G	26692243	C	G	26692243	2	3	267	1	0	0	0	0	0	0	0	1	13977	494	18	5		5	SEBOX	17	26692243	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	19113978	26692243	54502967	76	132476											
KIAA0100	9703	broad.mit.edu	37	chr17	26970287	26970287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaactttctgtaggtcCgttctgatacgcacttctcc	7	12	4	2	rs139655833		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:26970287C>T	uc002hbu.2	-	4	390	c.291G>A	c.(289-291)ACG>ACA	p.T97T	KIAA0100_uc002hbv.2_Silent_p.T97T|KIAA0100_uc010crr.1_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	97						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCTGTAGGTCCGTTCTGATAC	0.502													T	26970287	C	T	26970287	2	4	267	1	0	0	0	0	0	0	0	1	8154	639	23	1		1	KIAA0100	17	26970287	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	278044	26970287	54224923	77	132477											
SUPT6H	6830	broad.mit.edu	37	chr17	27014416	27014416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtcaaccgtgccattgCccacccttacagccaggcct	8	17	1	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:27014416C>T	uc002hby.2	+	23	3023	c.2933C>T	c.(2932-2934)GCC>GTC	p.A978V	SUPT6H_uc010crt.2_Missense_Mutation_p.A978V|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	978					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CGTGCCATTGCCCACCCTTAC	0.522													T	27014416	C	T	27014416	3	4	267	1	0	0	0	0	1	0	0	0	15397	739	26	2	3019	2	SUPT6H	17	27014416	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	44129	27014416	54180794	78	132478											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334187	39334187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacacacagcagctgggaCggcagcaggtggtcctgcag	16	11	0	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:39334187C>T	uc002hwd.2	-	1	274	c.230G>A	c.(229-231)CGT>CAT	p.R77H		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	77	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].|13.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGACGGCAGCAGGT	0.667													T	39334187	C	T	39334187	3	4	267	1	0	0	0	0	1	0	0	0	8551	536	19	1	184	1	KRTAP4-2	17	39334187	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	12319771	39334187	41861023	79	132479											
FMNL1	752	broad.mit.edu	37	chr17	43320550	43320550	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaggccccagcctggacctCagcgctctcaagagtaaggc	11	15	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:43320550C>A	uc002iin.2	+	17	2276	c.2076C>A	c.(2074-2076)CTC>CTA	p.L692L	FMNL1_uc002iiq.2_Silent_p.L270L|FMNL1_uc010dag.2_RNA	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	692	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GCCTGGACCTCAGCGCTCTCA	0.597													A	43320550	C	A	43320550	2	1	267	1	0	0	0	0	0	0	0	1	5951	813	29	5		5	FMNL1	17	43320550	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	3986363	43320550	37874660	80	132480											
TMEM92	162461	broad.mit.edu	37	chr17	48356643	48356644	+	Frame_Shift_Ins	INS	-	-	GG													agaatataccggggatcagaINSggggcattgacaacccggcc							TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:48356643_48356644insGG	uc002iqn.1	+	5	484_485	c.454_455insGG	c.(454-456)AGGfs	p.R152fs		NM_153229	NP_694961	Q6UXU6	TMM92_HUMAN	transmembrane protein 92 precursor	152	Cytoplasmic (Potential).					integral to membrane					0						CGGGGATCAGAGGGGCATTGAC	0.589													GG	48356644	-	GG	48356643	7	5	267	1	0	1	1	0	0	0	0	0	16218	295	11	0	472	0	TMEM92	17	48356643	Frame_Shift_Ins	INS	-	TCGA-HU-A4GD-01A-11D-A25D-08	5036093	48356643	32838567	81	132481	687	2									
TMEM92	162461	broad.mit.edu	37	chr17	48356644	48356645	+	Frame_Shift_Ins	INS	-	-	GG													gaatataccggggatcagagINSgggcattgacaacccggcct							TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr17:48356643_48356644A>AGG	uc002iqn.2	+	5	564_565	c.454_455A>AGG	c.(454-456)aggfs	p.R152fs	TMEM92_uc021tzz.1_Frame_Shift_Ins_p.R152fs	NM_001168215	NP_694961	Q6UXU6	TMM92_HUMAN	Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA.	152						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CGGGGATCAGAGGGGCATTGAC	0.589													GG	48356645	-	GG	48356644	7	5	267	1	0	1	1	0	0	0	0	0	16218	1000	35	0	473	0	TMEM92	17	48356644	Frame_Shift_Ins	INS	-	TCGA-HU-A4GD-01A-11D-A25D-08	1	48356644	32838566	82	132482	687	2									
YES1	7525	broad.mit.edu	37	chr18	736827	736827	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcttgctgtgtattcAttgtcttcaattaaccttgc	6	10	4	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr18:736827A>G	uc002kky.2	-	10	1493	c.1272T>C	c.(1270-1272)AAT>AAC	p.N424N	YES1_uc002kkz.2_Silent_p.N424N	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	424	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	CTGTGTATTCATTGTCTTCAA	0.348													G	736827	A	G	736827	2	3	267	1	0	0	0	0	0	0	0	1	17471	214	8	3		3	YES1	18	736827	Silent	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08		736827	77340421	83	132483											
SIPA1L3	23094	broad.mit.edu	37	chr19	38573204	38573204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggaagccagcaggccGtgggtgtgtcagaagagctt	15	12	1	2	rs149728646	byFrequency	TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:38573204G>A	uc002ohk.2	+	3	1508	c.999G>A	c.(997-999)CCG>CCA	p.P333P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	333					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAGCAGGCCGTGGGTGTGTC	0.682													A	38573204	G	A	38573204	2	1	267	1	0	0	0	0	0	0	0	1	14331	1132	40	1		1	SIPA1L3	19	38573204	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08		38573204	20555779	84	132484											
SARS2	54938	broad.mit.edu	37	chr19	39412044	39412044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccacctggcttgtctcCgaccatgtggagcactcgag	12	14	1	0	rs141084630		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:39412044C>T	uc002oka.2	-	5	737	c.577G>A	c.(577-579)GGA>AGA	p.G193R	SARS2_uc002ojz.2_Missense_Mutation_p.G3R|SARS2_uc010xup.1_Missense_Mutation_p.G195R|SARS2_uc002okb.2_Missense_Mutation_p.G193R|SARS2_uc010xuq.1_Missense_Mutation_p.G193R|SARS2_uc010xur.1_RNA	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	193					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	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)			GGCTTGTCTCCGACCATGTGG	0.692													T	39412044	C	T	39412044	3	4	267	1	0	0	0	0	1	0	0	0	13845	661	23	1	1027	1	SARS2	19	39412044	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	838840	39412044	19716939	85	132485											
ZNF222	7673	broad.mit.edu	37	chr19	44537105	44537105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggagaaaacccatccaaAtgtgaggactgtgggaagcg	14	7	0	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:44537105A>C	uc002oyc.2	+	4	1461	c.1278A>C	c.(1276-1278)AAA>AAC	p.K426N	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.K466N|ZNF222_uc002oyd.2_Missense_Mutation_p.K372N	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN	zinc finger protein 222 isoform 2	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Prostate(69;0.0435)				ACCCATCCAAATGTGAGGACT	0.338													C	44537105	A	C	44537105	3	2	267	1	0	0	0	0	1	0	0	0	17773	98	4	5	1431	5	ZNF222	19	44537105	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08	5125061	44537105	14591878	86	132486											
ZNF229	7772	broad.mit.edu	37	chr19	44933480	44933480	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaacctttgccacacttGtcacactggtagggcctctc	8	14	2	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:44933480G>C	uc002oze.1	-	6	1910	c.1476C>G	c.(1474-1476)GAC>GAG	p.D492E	ZNF229_uc010ejk.1_Missense_Mutation_p.D146E|ZNF229_uc010ejl.1_Missense_Mutation_p.D486E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	492	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TGCCACACTTGTCACACTGGT	0.527													C	44933480	G	C	44933480	3	2	267	1	0	0	0	0	1	0	0	0	17779	1368	48	5	1005	5	ZNF229	19	44933480	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	396375	44933480	14195503	87	132487											
ZNF611	81856	broad.mit.edu	37	chr19	53208636	53208636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctccactatgaattcTagtatgttttgccagatagg	7	8	2	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr19:53208636T>C	uc002pzz.2	-	7	1989	c.1672A>G	c.(1672-1674)AGA>GGA	p.R558G	ZNF611_uc010eqc.2_Missense_Mutation_p.R488G|ZNF611_uc010ydo.1_Missense_Mutation_p.R488G|ZNF611_uc010ydr.1_Missense_Mutation_p.R489G|ZNF611_uc010ydp.1_Missense_Mutation_p.R558G|ZNF611_uc010ydq.1_Missense_Mutation_p.R558G|ZNF611_uc002qaa.3_Missense_Mutation_p.R488G	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	558	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTATGAATTCTAGTATGTTTT	0.408													C	53208636	T	C	53208636	3	2	267	1	0	0	0	0	1	0	0	0	18034	1530	53	3	449	3	ZNF611	19	53208636	Missense_Mutation	SNP	T	TCGA-HU-A4GD-01A-11D-A25D-08	8275156	53208636	5920347	88	132488											
INSM1	3642	broad.mit.edu	37	chr20	20349829	20349829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccaaggtcttcagctgCccggccaacctggcctcgca	11	17	2	0			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr20:20349829C>T	uc002wrx.2	+	1	1065	c.918C>T	c.(916-918)TGC>TGT	p.C306C		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	306	C2H2-type 2.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		TCTTCAGCTGCCCGGCCAACC	0.562													T	20349829	C	T	20349829	2	4	267	1	0	0	0	0	0	0	0	1	7771	747	26	2		2	INSM1	20	20349829	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08		20349829	42675691	89	132489											
RAE1	8480	broad.mit.edu	37	chr20	55949845	55949845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcatacgcttccagctaCgactggtcaaaggtgagaac	10	10	1	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr20:55949845C>T	uc002xyg.2	+	11	1349	c.1008C>T	c.(1006-1008)TAC>TAT	p.Y336Y	RAE1_uc010gis.1_Silent_p.Y289Y|RAE1_uc010git.1_Silent_p.Y336Y|RAE1_uc002xyh.2_Silent_p.Y336Y|RAE1_uc002xyi.2_Silent_p.Y336Y	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	336					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CTTCCAGCTACGACTGGTCAA	0.368													T	55949845	C	T	55949845	2	4	267	1	0	0	0	0	0	0	0	1	12998	547	19	1		1	RAE1	20	55949845	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	35600016	55949845	7075675	90	132490											
DSCAM	1826	broad.mit.edu	37	chr21	42080394	42080394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaccagccttgatgtggAcatcctgacttctaattttc	6	12	2	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr21:42080394A>G	uc002yyq.1	-	2	799	c.347T>C	c.(346-348)GTC>GCC	p.V116A	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	116	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTGATGTGGACATCCTGACT	0.423													G	42080394	A	G	42080394	3	3	267	1	0	0	0	0	1	0	0	0	4768	275	10	3	5819	3	DSCAM	21	42080394	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08		42080394	6049501	91	132491											
ARVCF	421	broad.mit.edu	37	chr22	19967629	19967629	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgggcgctatccactgAgggcgagcgccgcaccagcc	14	16	0	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr22:19967629A>T	uc002zqz.2	-	6	1304	c.1033T>A	c.(1033-1035)TCA>ACA	p.S345T	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	345					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CTATCCACTGAGGGCGAGCGC	0.731													T	19967629	A	T	19967629	3	4	267	1	0	0	0	0	1	0	0	0	1003	304	11	5	1911	5	ARVCF	22	19967629	Missense_Mutation	SNP	A	TCGA-HU-A4GD-01A-11D-A25D-08		19967629	31336937	92	132492											
KCNJ4	3761	broad.mit.edu	37	chr22	38823654	38823654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatgaaggagtcgatgaCgcagcccacgatggactgga	13	9	1	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chr22:38823654C>T	uc003avs.1	-	2	581	c.484G>A	c.(484-486)GTC>ATC	p.V162I	KCNJ4_uc003avt.1_Missense_Mutation_p.V162I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	162	Helical; Name=M2; (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GAGTCGATGACGCAGCCCACG	0.622													T	38823654	C	T	38823654	3	4	267	1	0	0	0	0	1	0	0	0	8053	536	19	1	857	1	KCNJ4	22	38823654	Missense_Mutation	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	18856025	38823654	12480912	93	132493											
HEPH	9843	broad.mit.edu	37	chrX	65476078	65476078	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgaaaataagtcttgGtatttggaggaaaatgtggc	12	2	1	2			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chrX:65476078G>C	uc011moz.1	+	17	2871	c.2811G>C	c.(2809-2811)TGG>TGC	p.W937C	HEPH_uc004dwn.2_Missense_Mutation_p.W937C|HEPH_uc004dwo.2_Missense_Mutation_p.W667C|HEPH_uc010nkr.2_Missense_Mutation_p.W745C|HEPH_uc011mpa.1_Missense_Mutation_p.W937C|HEPH_uc010nks.2_Missense_Mutation_p.W226C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	934	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						ATAAGTCTTGGTATTTGGAGG	0.448													C	65476078	G	C	65476078	3	2	267	1	0	0	0	0	1	0	0	0	7054	1270	44	5	3030	5	HEPH	23	65476078	Missense_Mutation	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08		65476078	89794482	94	132494											
IGSF1	3547	broad.mit.edu	37	chrX	130409205	130409205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgaagagtcatattttcGccaggggccaccatgggacc	11	12	1	2	rs7879617		TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chrX:130409205G>A	uc004ewd.2	-	17	3478	c.3240C>T	c.(3238-3240)GGC>GGT	p.G1080G	IGSF1_uc004ewe.3_Silent_p.G1074G|IGSF1_uc004ewf.2_Silent_p.G1060G	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1080	Extracellular (Potential).|Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TCATATTTTCGCCAGGGGCCA	0.527													A	130409205	G	A	130409205	2	1	267	1	0	0	0	0	0	0	0	1	7596	1074	38	1		1	IGSF1	23	130409205	Silent	SNP	G	TCGA-HU-A4GD-01A-11D-A25D-08	64933127	130409205	24861355	95	132495											
PLXNB3	5365	broad.mit.edu	37	chrX	153040483	153040483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggggccaggggaggaCggccactgtgccactgtgcg	18	12	0	1			TCGA-HU-A4GD-01A-11D-A25D-08	TCGA-HU-A4GD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3980b1e2-d2d8-465d-b17f-840abcfc76f7	bf189546-e18b-4a55-8d8e-200019850a6e	g.chrX:153040483C>T	uc004fii.2	+	24	4254	c.4080C>T	c.(4078-4080)GAC>GAT	p.D1360D	PLXNB3_uc010nuk.2_Silent_p.D1383D|PLXNB3_uc011mzd.1_Silent_p.D999D|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1360	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	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)					CAGGGGAGGACGGCCACTGTG	0.687													T	153040483	C	T	153040483	2	4	267	1	0	0	0	0	0	0	0	1	12125	535	19	1		1	PLXNB3	23	153040483	Silent	SNP	C	TCGA-HU-A4GD-01A-11D-A25D-08	22631278	153040483	2230077	96	132496											
DAB1	1600	broad.mit.edu	37	chr1	57602299	57602299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttctcctttggaacgagCgccagcaacaacgccctgtt	10	13	1	0	rs151141316		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:57602299C>T	uc001cys.1	-	6	897	c.223G>A	c.(223-225)GCT>ACT	p.A75T	DAB1_uc001cyt.1_Missense_Mutation_p.A75T|DAB1_uc001cyq.1_Missense_Mutation_p.A75T|DAB1_uc001cyr.1_Missense_Mutation_p.A75T|DAB1_uc009vzw.1_Missense_Mutation_p.A75T|DAB1_uc009vzx.1_Missense_Mutation_p.A75T	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	75	PID.				cell differentiation|nervous system development					skin(2)|ovary(1)	3						TTGGAACGAGCGCCAGCAACA	0.398													T	57602299	C	T	57602299	3	4	268	1	0	0	0	0	1	0	0	0	4217	768	27	1	1488	1	DAB1	1	57602299	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08		57602299	191648322	1	132497											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643168	94643169	+	Missense_Mutation	DNP	CA	CA	AC													ttttttacatggctactcacCactgagacatgcatcacatt							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:94643168_94643169CA>AC	uc001dqj.3	-	22	3273_3274	c.2904_2905TG>GT	c.(2902-2907)AGTGAC>AGGTAC	p.968_969SD>RY	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.534_535SG>RC	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	968_969					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGCTACTCACCACTGAGACATG	0.391													AC	94643169	CA	AC	94643168	3	1	268	1	0	0	0	0	1	0	0	0	878	608	21	5	888	5	ARHGAP29	1	94643168	Missense_Mutation	DNP	CA	TCGA-HU-A4GF-01A-11D-A24D-08	37040869	94643168	154607453	2	132498											
ALG14	199857	broad.mit.edu	37	chr1	95538430	95538430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacagctcctgcggccgCagctagaacgagaacgcaca	11	16	0	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:95538430C>T	uc001dra.2	-	1	78	c.25G>A	c.(25-27)GCG>ACG	p.A9T		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	asparagine-linked glycosylation 14 homolog	9	Helical; (Potential).				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				0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CCTGCGGCCGCAGCTAGAACG	0.572													T	95538430	C	T	95538430	3	4	268	1	0	0	0	0	1	0	0	0	516	710	25	2	641	2	ALG14	1	95538430	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	895262	95538430	153712191	3	132499											
BCL2L15	440603	broad.mit.edu	37	chr1	114429206	114429206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttttggcagaagcttccaAttctccgttgaactggtcac	9	10	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:114429206A>G	uc001edw.2	-	2	374	c.202T>C	c.(202-204)TTG>CTG	p.L68L	uc001edv.1_Intron|BCL2L15_uc001edx.2_Silent_p.L68L|BCL2L15_uc001edy.2_Intron|BCL2L15_uc001edz.1_Intron	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	pro-apoptotic Bcl-2 protein	68					apoptosis					ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-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)		GAAGCTTCCAATTCTCCGTTG	0.418													G	114429206	A	G	114429206	2	3	268	1	0	0	0	0	0	0	0	1	1373	98	4	3		3	BCL2L15	1	114429206	Silent	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	18890776	114429206	134821415	4	132500											
PHGDH	26227	broad.mit.edu	37	chr1	120284422	120284422	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgctgggaactgcctaAgccccgcagtcattgtcggc	12	12	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:120284422A>C	uc001ehz.2	+	10	1338	c.1111A>C	c.(1111-1113)AGC>CGC	p.S371R	PHGDH_uc009whm.2_Missense_Mutation_p.S269R|PHGDH_uc001eia.2_Missense_Mutation_p.S370R|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.S337R|PHGDH_uc001eic.2_5'Flank	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	371					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	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)	GAACTGCCTAAGCCCCGCAGT	0.552													C	120284422	A	C	120284422	3	2	268	1	0	0	0	0	1	0	0	0	11841	72	3	5	1149	5	PHGDH	1	120284422	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	5855216	120284422	128966199	5	132501											
FLG	2312	broad.mit.edu	37	chr1	152286041	152286041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctcagcccagcctttcCgtggcctgacactgattgtg	10	14	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:152286041C>T	uc001ezu.1	-	3	1357	c.1321G>A	c.(1321-1323)GGA>AGA	p.G441R	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	441	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCTTTCCGTGGCCTGAC	0.592									Ichthyosis				T	152286041	C	T	152286041	3	4	268	1	0	0	0	0	1	0	0	0	5922	661	23	1	10868	1	FLG	1	152286041	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	32001619	152286041	96964580	6	132502											
PGLYRP4	57115	broad.mit.edu	37	chr1	153303244	153303244	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaggacctggggcttctctCagtgtttgaaatgaggccag	14	8	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:153303244C>A	uc001fbo.2	-	9	1186	c.1121G>T	c.(1120-1122)TGA>TTA	p.*374L	PGLYRP4_uc001fbp.2_Nonstop_Mutation_p.*370L	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	374					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			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCTTCTCTCAGTGTTTGAA	0.567													A	153303244	C	A	153303244	4	1	268	1	0	0	0	0	0	0	0	0	11796	837	29	5	4	5	PGLYRP4	1	153303244	Nonstop_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	1017203	153303244	95947377	7	132503											
SPTA1	6708	broad.mit.edu	37	chr1	158585114	158585114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgatatcaaggatcAgagcgtcttccaagttgtcc	9	8	3	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:158585114A>G	uc001fst.1	-	48	6879	c.6680T>C	c.(6679-6681)CTG>CCG	p.L2227P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2227	Spectrin 21.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ATCAAGGATCAGAGCGTCTTC	0.498													G	158585114	A	G	158585114	3	3	268	1	0	0	0	0	1	0	0	0	15115	188	7	3	599	3	SPTA1	1	158585114	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	5281870	158585114	90665507	8	132504											
SPTA1	6708	broad.mit.edu	37	chr1	158621218	158621218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagtagatcatcagctaccTtgttgatatcccttagccga	7	10	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:158621218T>C	uc001fst.1	-	24	3615	c.3416A>G	c.(3415-3417)AAG>AGG	p.K1139R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1139	Spectrin 11.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ATCAGCTACCTTGTTGATATC	0.443													C	158621218	T	C	158621218	3	2	268	1	0	0	0	0	1	0	0	0	15115	1609	56	3	3959	3	SPTA1	1	158621218	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	36104	158621218	90629403	9	132505											
HMCN1	83872	broad.mit.edu	37	chr1	185892705	185892705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaccaaatgaagctttctTtctcaaagtaacaggctatg	6	10	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:185892705T>A	uc001grq.1	+	8	1434	c.1205T>A	c.(1204-1206)TTT>TAT	p.F402Y		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	402					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GAAGCTTTCTTTCTCAAAGTA	0.353													A	185892705	T	A	185892705	3	1	268	1	0	0	0	0	1	0	0	0	7220	1841	64	5	1235	5	HMCN1	1	185892705	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	27271487	185892705	63357916	10	132506											
PLA2G4A	5321	broad.mit.edu	37	chr1	186948546	186948546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaattttcaatatccaaAtcaagcattcaaaagactac	2	10	4	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:186948546A>G	uc001gsc.2	+	17	2265	c.2060A>G	c.(2059-2061)AAT>AGT	p.N687S	PLA2G4A_uc010pos.1_Missense_Mutation_p.N627S	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	687	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CAATATCCAAATCAAGCATTC	0.363													G	186948546	A	G	186948546	3	3	268	1	0	0	0	0	1	0	0	0	12001	101	4	3	2122	3	PLA2G4A	1	186948546	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	1055841	186948546	62302075	11	132507											
OBSCN	84033	broad.mit.edu	37	chr1	228461923	228461923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggagcctgtgtgcggcGagctgggtggcacggtgaca	19	9	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:228461923G>A	uc009xez.1	+	19	5505	c.5461G>A	c.(5461-5463)GAG>AAG	p.E1821K	OBSCN_uc001hsn.2_Missense_Mutation_p.E1821K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1821	Ig-like 18.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGTGTGCGGCGAGCTGGGTGG	0.657													A	228461923	G	A	228461923	3	1	268	1	0	0	0	0	1	0	0	0	10812	1059	37	1	5531	1	OBSCN	1	228461923	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	41513377	228461923	20788698	12	132508											
HIST3H2A	92815	broad.mit.edu	37	chr1	228645509	228645509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgccaccctgcttaccacGaccggacatttccgagtcaa	7	16	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:228645509G>A	uc001hsy.2	-	1	52	c.10C>T	c.(10-12)CGT>TGT	p.R4C	HIST3H2BB_uc001hsz.2_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	4					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1		Prostate(94;0.183)				TGCTTACCACGACCGGACATT	0.607													A	228645509	G	A	228645509	3	1	268	1	0	0	0	0	1	0	0	0	7182	1058	37	1	386	1	HIST3H2A	1	228645509	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	183586	228645509	20605112	13	132509											
LYST	1130	broad.mit.edu	37	chr1	235918947	235918947	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaatatgcatctaataGctaaacaaaaaatttaagtc	4	6	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:235918947G>C	uc001hxj.2	-	25	7235	c.7060C>G	c.(7060-7062)CTA>GTA	p.L2354V	LYST_uc009xga.1_5'Flank	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2354					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GCATCTAATAGCTAAACAAAA	0.269									Chediak-Higashi_syndrome				C	235918947	G	C	235918947	3	2	268	1	0	0	0	0	1	0	0	0	9128	985	34	5	4461	5	LYST	1	235918947	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	7273438	235918947	13331674	14	132510											
FMN2	56776	broad.mit.edu	37	chr1	240370555	240370555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcctccaccacctccaTcccttctgtggtctgctggg	8	18	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:240370555T>C	uc010pyd.1	+	5	2668	c.2443T>C	c.(2443-2445)TCC>CCC	p.S815P	FMN2_uc010pye.1_Missense_Mutation_p.S819P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	815	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCACCTCCATCCCTTCTGTG	0.537													C	240370555	T	C	240370555	3	2	268	1	0	0	0	0	1	0	0	0	5950	1435	50	3	2461	3	FMN2	1	240370555	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	4451608	240370555	8880066	15	132511											
FMN2	56776	broad.mit.edu	37	chr1	240371459	240371459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccccctctacccggagCgggcataccccctcctcccc	7	24	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr1:240371459C>T	uc010pyd.1	+	5	3572	c.3347C>T	c.(3346-3348)GCG>GTG	p.A1116V	FMN2_uc010pye.1_Missense_Mutation_p.A1120V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1116	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.716													T	240371459	C	T	240371459	3	4	268	1	0	0	0	0	1	0	0	0	5950	768	27	1	3365	1	FMN2	1	240371459	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	904	240371459	8879162	16	132512											
SLC30A3	7781	broad.mit.edu	37	chr2	27480102	27480102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgcacaaatgccgcccGgacgctggtgttccccaggg	13	15	0	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:27480102G>A	uc002rjk.2	-	5	883	c.697C>T	c.(697-699)CGG>TGG	p.R233W	SLC30A3_uc002rjj.2_Silent_p.S78S|SLC30A3_uc010ylh.1_Missense_Mutation_p.R228W	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	233	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGCCGCCCGGACGCTGGTG	0.647													A	27480102	G	A	27480102	3	1	268	1	0	0	0	0	1	0	0	0	14556	1115	39	1	485	1	SLC30A3	2	27480102	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		27480102	215719271	17	132513											
PREPL	9581	broad.mit.edu	37	chr2	44549026	44549026	+	Frame_Shift_Del	DEL	A	A	-													tgaatatctagaataatattAggggtctgatagcctggaag							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:44549025_44549025TA>T	uc002ruf.3	-	12	2994	c.2035_2035TA>A	c.(2035-2037)aatfs	p.N679fs	PREPL_uc002rug.3_Frame_Shift_Del_p.N613fs|PREPL_uc002ruh.3_Frame_Shift_Del_p.N617fs|PREPL_uc010fax.3_Frame_Shift_Del_p.N679fs|PREPL_uc002rui.4_Frame_Shift_Del_p.N590fs|PREPL_uc002ruj.2_Frame_Shift_Del_p.N590fs|PREPL_uc002ruk.2_Frame_Shift_Del_p.N679fs	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	679					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)				AGAATAATATTAGGGGTCTGA	0.413													-	44549026	A	-	44549026	7	5	268	1	0	1	0	1	0	0	0	0	12475	407	15	0	157	0	PREPL	2	44549026	Frame_Shift_Del	DEL	A	TCGA-HU-A4GF-01A-11D-A24D-08	17068924	44549026	198650347	18	132514											
NRXN1	9378	broad.mit.edu	37	chr2	50280600	50280600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgatgttggcatcgttttCggctgccatattcagaactt	11	9	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:50280600C>T	uc010fbp.2	-	4	1549	c.742G>A	c.(742-744)GAA>AAA	p.E248K	NRXN1_uc002rxb.3_Missense_Mutation_p.E985K|NRXN1_uc010fbq.2_Missense_Mutation_p.E1353K|NRXN1_uc002rxe.3_Missense_Mutation_p.E1283K	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	248	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCATCGTTTTCGGCTGCCATA	0.507													T	50280600	C	T	50280600	3	4	268	1	0	0	0	0	1	0	0	0	10665	893	31	1	598	1	NRXN1	2	50280600	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	5731574	50280600	192918773	19	132515											
VPS54	51542	broad.mit.edu	37	chr2	64189220	64189220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgccctgaagttcctGctgtagaacctcttgtgttg	11	9	1	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:64189220G>A	uc002scq.2	-	7	1145	c.982C>T	c.(982-984)CAG>TAG	p.Q328*	VPS54_uc002scp.2_Nonsense_Mutation_p.Q316*|VPS54_uc010fct.2_Nonsense_Mutation_p.Q211*	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	328					protein transport|retrograde transport, endosome to Golgi						0						TGAAGTTCCTGCTGTAGAACC	0.368													A	64189220	G	A	64189220	4	1	268	1	0	0	0	0	0	1	0	0	17213	1328	46	2	2019	2	VPS54	2	64189220	Nonsense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	13908620	64189220	179010153	20	132516											
REG1B	5968	broad.mit.edu	37	chr2	79312349	79312349	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcttcctctagtttTtgaacttgcaaacaaaggag	7	8	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:79312349T>G	uc002sny.2	-	6	606	c.494A>C	c.(493-495)AAA>ACA	p.K165T		NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	165					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						CCTCTAGTTTTTGAACTTGCA	0.373													G	79312349	T	G	79312349	3	3	268	1	0	0	0	0	1	0	0	0	13211	1841	64	5	10	5	REG1B	2	79312349	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	15123129	79312349	163887024	21	132517											
ZNF2	7549	broad.mit.edu	37	chr2	95847411	95847411	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttactcgacaccagagaattCacactggagaaagtccttat	7	10	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:95847411C>T	uc002suf.2	+	6	1297	c.835C>T	c.(835-837)CAC>TAC	p.H279Y	ZNF2_uc002sug.2_Missense_Mutation_p.H237Y|ZNF2_uc010yue.1_Missense_Mutation_p.H242Y|ZNF2_uc010fhs.2_Missense_Mutation_p.H200Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	279	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCAGAGAATTCACACTGGAGA	0.463													T	95847411	C	T	95847411	3	4	268	1	0	0	0	0	1	0	0	0	17757	826	29	4	852	4	ZNF2	2	95847411	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	16535062	95847411	147351962	22	132518											
LCT	3938	broad.mit.edu	37	chr2	136562354	136562354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggggctggatgctggCggccagcagtgtatcgatga	16	9	0	1	rs139591272	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:136562354C>T	uc002tuu.1	-	10	4458	c.4447G>A	c.(4447-4449)GCC>ACC	p.A1483T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1483	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGATGCTGGCGGCCAGCAGT	0.562													T	136562354	C	T	136562354	3	4	268	1	0	0	0	0	1	0	0	0	8693	768	27	1	1368	1	LCT	2	136562354	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	40714943	136562354	106637019	23	132519											
RND3	390	broad.mit.edu	37	chr2	151331486	151331486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggggcggacattgtcaTagtaaggagaacctgagaag	16	5	1	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:151331486T>C	uc002txe.2	-	3	495	c.251A>G	c.(250-252)TAT>TGT	p.Y84C	RND3_uc002txf.2_Missense_Mutation_p.Y84C|RND3_uc002txg.2_Missense_Mutation_p.Y84C|RND3_uc010zbv.1_Missense_Mutation_p.Y84C|RND3_uc010zbw.1_5'UTR	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	84					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		GACATTGTCATAGTAAGGAGA	0.463													C	151331486	T	C	151331486	3	2	268	1	0	0	0	0	1	0	0	0	13421	1406	49	3	495	3	RND3	2	151331486	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	14769132	151331486	91867887	24	132520											
CHRNA1	1134	broad.mit.edu	37	chr2	175619140	175619140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatagcaaagtcaccatctGcactacaattgggataaaag	7	9	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:175619140G>A	uc002ujd.2	-	6	500	c.422C>T	c.(421-423)GCA>GTA	p.A141V	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.A116V|CHRNA1_uc002ujf.3_Missense_Mutation_p.A116V	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	141	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GTCACCATCTGCACTACAATT	0.463													A	175619140	G	A	175619140	3	1	268	1	0	0	0	0	1	0	0	0	3381	1319	46	2	1046	2	CHRNA1	2	175619140	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	24287654	175619140	67580233	25	132521											
ITGAV	3685	broad.mit.edu	37	chr2	187503013	187503013	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttgtttcagactttgtttCaggagttccaagagcagcaa	10	7	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:187503013C>A	uc002upq.2	+	9	1088	c.812C>A	c.(811-813)TCA>TAA	p.S271*	ITGAV_uc010frs.2_Nonsense_Mutation_p.S235*|ITGAV_uc010zfv.1_Nonsense_Mutation_p.S225*	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	271	FG-GAP 4.|Extracellular (Potential).				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			ovary(2)|kidney(1)|skin(1)	4			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)		GACTTTGTTTCAGGAGTTCCA	0.338													A	187503013	C	A	187503013	4	1	268	1	0	0	0	0	0	1	0	0	7888	838	29	5	897	5	ITGAV	2	187503013	Nonsense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	11883873	187503013	55696360	26	132522											
DNAH7	56171	broad.mit.edu	37	chr2	196877623	196877623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttgatatcaactaaacGtaattttctgcaaaagataa	4	6	3	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:196877623G>A	uc002utj.3	-	10	978	c.877C>T	c.(877-879)CGT>TGT	p.R293C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	293	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCAACTAAACGTAATTTTCTG	0.284													A	196877623	G	A	196877623	3	1	268	1	0	0	0	0	1	0	0	0	4606	1145	40	1	11421	1	DNAH7	2	196877623	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	9374610	196877623	46321750	27	132523											
SPEG	10290	broad.mit.edu	37	chr2	220312985	220312985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctccctggcgggcaccGcggaatcccgaccccagacg	13	19	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:220312985G>A	uc010fwg.2	+	4	1105	c.1105G>A	c.(1105-1107)GCG>ACG	p.A369T	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	369					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		GGCGGGCACCGCGGAATCCCG	0.706													A	220312985	G	A	220312985	3	1	268	1	0	0	0	0	1	0	0	0	15035	1087	38	1	1119	1	SPEG	2	220312985	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	23435362	220312985	22886388	28	132524											
SPHKAP	80309	broad.mit.edu	37	chr2	229046307	229046307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccgagagcagggagttgCcatccattgttggtgggcgc	16	9	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:229046307C>T	uc002vpq.2	-	1	55	c.8G>A	c.(7-9)GGC>GAC	p.G3D	SPHKAP_uc002vpp.2_Missense_Mutation_p.G3D|SPHKAP_uc010zlx.1_Missense_Mutation_p.G3D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	3						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		CAGGGAGTTGCCATCCATTGT	0.552													T	229046307	C	T	229046307	3	4	268	1	0	0	0	0	1	0	0	0	15047	739	26	2	5142	2	SPHKAP	2	229046307	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	8733322	229046307	14153066	29	132525											
PASK	23178	broad.mit.edu	37	chr2	242076420	242076420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagggcagccccaccTtgcccaggagctccgtcttt	11	18	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr2:242076420T>G	uc002wao.1	-	7	1228	c.1136A>C	c.(1135-1137)AAG>ACG	p.K379T	PASK_uc010zol.1_Missense_Mutation_p.K193T|PASK_uc010zom.1_Missense_Mutation_p.K344T|PASK_uc010fzl.1_Missense_Mutation_p.K379T|PASK_uc010zon.1_Missense_Mutation_p.K160T|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.K379T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	379	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		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)		CAGCCCCACCTTGCCCAGGAG	0.657													G	242076420	T	G	242076420	3	3	268	1	0	0	0	0	1	0	0	0	11472	1623	56	5	2883	5	PASK	2	242076420	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	13030113	242076420	1122953	30	132526											
CNTN4	152330	broad.mit.edu	37	chr3	2861218	2861218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcactgtgtctgtccgtcGaggtcaaggaatggtgctac	13	9	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:2861218G>A	uc003bpc.2	+	6	628	c.407G>A	c.(406-408)CGA>CAA	p.R136Q	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R136Q	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	136	Ig-like C2-type 2.				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			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTGTCCGTCGAGGTCAAGGA	0.403													A	2861218	G	A	2861218	3	1	268	1	0	0	0	0	1	0	0	0	3643	1058	37	1	421	1	CNTN4	3	2861218	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		2861218	195161212	31	132527											
CRTAP	10491	broad.mit.edu	37	chr3	33161979	33161980	+	Frame_Shift_Del	DEL	AT	AT	-													aaagacctggaaaccaagtcAtatgaagtatgtttggattt							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:33161979_33161980delAT	uc003cfl.3	+	2	735_736	c.615_616delAT	c.(613-618)TCATATfs	p.S205fs	CRTAP_uc010hfz.2_Frame_Shift_Del_p.S205fs|CRTAP_uc003cfm.2_Frame_Shift_Del_p.S26fs|CRTAP_uc003cfn.2_Frame_Shift_Del_p.S26fs	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	205_206						proteinaceous extracellular matrix	binding				0						aaaccaagtcatatgaagtatg	0.238													-	33161980	AT	-	33161979	7	5	268	1	0	1	0	1	0	0	0	0	3898	204	8	0	621	0	CRTAP	3	33161979	Frame_Shift_Del	DEL	AT	TCGA-HU-A4GF-01A-11D-A24D-08	30300761	33161979	164860451	32	132528											
SCN5A	6331	broad.mit.edu	37	chr3	38648264	38648264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagccgtggtcggggttctCgcctgcctttaggcaccggt	15	12	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:38648264C>T	uc003cio.2	-	9	1230	c.1036G>A	c.(1036-1038)GAG>AAG	p.E346K	SCN5A_uc003cin.2_Missense_Mutation_p.E346K|SCN5A_uc003cil.3_Missense_Mutation_p.E346K|SCN5A_uc010hhi.2_Missense_Mutation_p.E346K|SCN5A_uc010hhk.2_Missense_Mutation_p.E346K|SCN5A_uc011ayr.1_Missense_Mutation_p.E346K|SCN5A_uc010hhj.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	346					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	TCGGGGTTCTCGCCTGCCTTT	0.602													T	38648264	C	T	38648264	3	4	268	1	0	0	0	0	1	0	0	0	13922	893	31	1	5094	1	SCN5A	3	38648264	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	5486285	38648264	159374166	33	132529											
CELSR3	1951	broad.mit.edu	37	chr3	48697258	48697258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgccttctgtgggatgCcattgtcccgagctgtgata	12	10	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:48697258C>T	uc003cul.2	-	1	3091	c.2810G>A	c.(2809-2811)GGC>GAC	p.G937D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1007D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	937	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTGGGATGCCATTGTCCCG	0.512													T	48697258	C	T	48697258	3	4	268	1	0	0	0	0	1	0	0	0	3223	739	26	2	7268	2	CELSR3	3	48697258	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	10048994	48697258	149325172	34	132530											
MST1R	4486	broad.mit.edu	37	chr3	49936308	49936308	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcccacctcacctggtcccCagaggcaaagagtaggtggt	12	13	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:49936308C>G	uc003cxy.3	-	3	1804	c.1540G>C	c.(1540-1542)GGG>CGG	p.G514R	MST1R_uc011bdd.1_Missense_Mutation_p.G514R|MST1R_uc011bde.1_Missense_Mutation_p.G514R|MST1R_uc011bdf.1_Intron|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	514	Extracellular (Potential).|Sema.				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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACCTGGTCCCCAGAGGCAAAG	0.597													G	49936308	C	G	49936308	3	3	268	1	0	0	0	0	1	0	0	0	9891	594	21	5	2734	5	MST1R	3	49936308	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	1239050	49936308	148086122	35	132531											
PRKCD	5580	broad.mit.edu	37	chr3	53220186	53220186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtctccccatcaggtgCtgcttggagagctgaagggc	14	12	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:53220186C>T	uc003dgl.2	+	13	1443	c.1090C>T	c.(1090-1092)CTG>TTG	p.L364L	PRKCD_uc003dgm.2_Silent_p.L364L	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	364	Protein kinase.				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			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		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)		CCATCAGGTGCTGCTTGGAGA	0.602													T	53220186	C	T	53220186	2	4	268	1	0	0	0	0	0	0	0	1	12509	796	28	2		2	PRKCD	3	53220186	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	3283878	53220186	144802244	36	132532											
FRMD4B	23150	broad.mit.edu	37	chr3	69236960	69236960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaactgttcattgatggacGactttctgaaatggattcgc	9	8	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:69236960G>A	uc003dnv.2	-	19	2170	c.1880C>T	c.(1879-1881)TCG>TTG	p.S627L	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.S279L|FRMD4B_uc011bga.1_Missense_Mutation_p.S471L	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	627						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATTGATGGACGACTTTCTGAA	0.453													A	69236960	G	A	69236960	3	1	268	1	0	0	0	0	1	0	0	0	6052	1059	37	1	1244	1	FRMD4B	3	69236960	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	16016774	69236960	128785470	37	132533											
MRPS22	56945	broad.mit.edu	37	chr3	139069035	139069035	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttttaggagcgttttattgtCgtcagagaaccaagtggcac	11	7	1	1	rs139990376		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:139069035C>A	uc003etb.2	+	4	527	c.519C>A	c.(517-519)GTC>GTA	p.V173V	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Silent_p.V172V|MRPS22_uc003ete.2_Silent_p.V132V	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	173						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GTTTTATTGTCGTCAGAGAAC	0.393													A	139069035	C	A	139069035	2	1	268	1	0	0	0	0	0	0	0	1	9833	871	31	5		5	MRPS22	3	139069035	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	69832075	139069035	58953395	38	132534											
SGEF	26084	broad.mit.edu	37	chr3	153840224	153840224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggttctgcgccccccgcGgactcctaacgcgcccgccc	11	22	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr3:153840224G>T	uc011bog.1	+	2	654	c.443G>T	c.(442-444)CGG>CTG	p.R148L	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R148L	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	148	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CGCCCCCCGCGGACTCCTAAC	0.701													T	153840224	G	T	153840224	3	4	268	1	0	0	0	0	1	0	0	0	14205	1116	39	5	445	5	SGEF	3	153840224	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	14771189	153840224	44182206	39	132535											
FAT4	79633	broad.mit.edu	37	chr4	126412322	126412324	+	In_Frame_Del	DEL	CTC	CTC	-													gcagattccactggaatcttCtcctccagtcggactttcta							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr4:126412322_126412324delCTC	uc003ifj.3	+	17	14345_14347	c.14345_14347delCTC	c.(14344-14349)TCTCCT>TCT	p.P4784del	FAT4_uc011cgp.1_In_Frame_Del_p.P3025del|FAT4_uc003ifi.1_In_Frame_Del_p.P2261del	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4784	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTGGAATCTTCTCCTCCAGTCGG	0.527													-	126412324	CTC	-	126412322	7	5	268	1	0	1	0	1	0	0	0	0	5692	913	32	0	14411	0	FAT4	4	126412322	In_Frame_Del	DEL	CTC	TCGA-HU-A4GF-01A-11D-A24D-08		126412322	64741954	40	132536											
SMAD1	4086	broad.mit.edu	37	chr4	146460992	146460992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttccaagacacagcgaatAtaatcctcagcacagcctct	7	13	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr4:146460992A>G	uc003ikc.2	+	3	853	c.437A>G	c.(436-438)TAT>TGT	p.Y146C	SMAD1_uc003ikd.2_Missense_Mutation_p.Y146C|SMAD1_uc010iov.2_Missense_Mutation_p.Y146C|SMAD1_uc011cic.1_Missense_Mutation_p.Y146C|SMAD1_uc003ikf.2_RNA	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	146					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			ovary(1)	1	all_hematologic(180;0.151)					CACAGCGAATATAATCCTCAG	0.428													G	146460992	A	G	146460992	3	3	268	1	0	0	0	0	1	0	0	0	14757	449	16	3	443	3	SMAD1	4	146460992	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	20048670	146460992	44693284	41	132537											
VEGFC	7424	broad.mit.edu	37	chr4	177632778	177632778	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttactggtttggggccttgAgagagaggcactgtaatttc	14	6	0	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr4:177632778A>T	uc003ius.1	-	4	1009	c.579T>A	c.(577-579)TCT>TCA	p.S193S		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	193					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			lung(5)	5		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)		TGGGGCCTTGAGAGAGAGGCA	0.363													T	177632778	A	T	177632778	2	4	268	1	0	0	0	0	0	0	0	1	17149	291	11	5		5	VEGFC	4	177632778	Silent	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	31171786	177632778	13521498	42	132538											
IRX4	50805	broad.mit.edu	37	chr5	1879711	1879711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagggccgcttctcgtctgCgcacttgttccgcggcggcc	14	15	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:1879711C>T	uc003jcz.2	-	4	762	c.643G>A	c.(643-645)GCA>ACA	p.A215T	IRX4_uc011cmf.1_Missense_Mutation_p.A76T	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	215					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		TTCTCGTCTGCGCACTTGTTC	0.488													T	1879711	C	T	1879711	3	4	268	1	0	0	0	0	1	0	0	0	7846	768	27	1	924	1	IRX4	5	1879711	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08		1879711	179035549	43	132539											
SEMA5A	9037	broad.mit.edu	37	chr5	9063172	9063172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccaagccccgttgaccGtgtgggcagagtatctccca	11	14	1	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:9063172G>A	uc003jek.2	-	18	3057	c.2345C>T	c.(2344-2346)ACG>ATG	p.T782M		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	782	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCCGTTGACCGTGTGGGCAGA	0.562													A	9063172	G	A	9063172	3	1	268	1	0	0	0	0	1	0	0	0	14037	1145	40	1	903	1	SEMA5A	5	9063172	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	7183461	9063172	171852088	44	132540											
CTNND2	1501	broad.mit.edu	37	chr5	11411765	11411765	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgatatctttttgaccatCtgaaatgaaatattttaaag	5	5	2	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:11411765C>T	uc003jfa.1	-	5	468	c.323_splice	c.e5-1	p.D108_splice	CTNND2_uc010itt.2_Splice_Site_p.D17_splice|CTNND2_uc011cmy.1_Splice_Site_p.D17_splice|CTNND2_uc011cmz.1_Splice_Site|CTNND2_uc010itu.1_Splice_Site	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TTTTGACCATCTGAAATGAAA	0.338													T	11411765	C	T	11411765	5	4	268	1	0	0	0	0	0	0	1	0	4020	927	32	4	3427	4	CTNND2	5	11411765	Splice_Site	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	2348593	11411765	169503495	45	132541											
NIPBL	25836	broad.mit.edu	37	chr5	37061100	37061100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaggtgaaaaggagtAtagtaaaacagtatctagat	11	3	1	4			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:37061100A>G	uc003jkl.3	+	45	8339	c.7840A>G	c.(7840-7842)ATA>GTA	p.I2614V	NIPBL_uc003jkk.3_Missense_Mutation_p.I2614V|NIPBL_uc003jkn.2_Missense_Mutation_p.I307V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2614					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			GAAAAGGAGTATAGTAAAACA	0.393													G	37061100	A	G	37061100	3	3	268	1	0	0	0	0	1	0	0	0	10428	449	16	3	8014	3	NIPBL	5	37061100	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	25649335	37061100	143854160	46	132542											
HMGCS1	3157	broad.mit.edu	37	chr5	43298983	43298983	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctgcttgatcaacatattGagaaggaaaatagatctcaa	7	7	3	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:43298983G>A	uc003jnr.3	-	3	292	c.85C>T	c.(85-87)CAA>TAA	p.Q29*	HMGCS1_uc003jnq.3_Nonsense_Mutation_p.Q29*	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	29					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						TCAACATATTGAGAAGGAAAA	0.443													A	43298983	G	A	43298983	4	1	268	1	0	0	0	0	0	1	0	0	7232	1299	45	4	1513	4	HMGCS1	5	43298983	Nonsense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	6237883	43298983	137616277	47	132543											
PCDHA9	9752	broad.mit.edu	37	chr5	140229141	140229141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacagttgactatcaaaaCgctctcggttcctgtaaaag	7	11	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:140229141C>T	uc003lhu.2	+	1	1785	c.1061C>T	c.(1060-1062)ACG>ATG	p.T354M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.T354M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	354	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATCAAAACGCTCTCGGTT	0.502													T	140229141	C	T	140229141	3	4	268	1	0	0	0	0	1	0	0	0	11531	536	19	1	1063	1	PCDHA9	5	140229141	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	96930158	140229141	40686119	48	132544											
PCDHA10	56139	broad.mit.edu	37	chr5	140237415	140237415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtggtggctaaggtgcgCgcagtggacgctgactctgg	17	10	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:140237415C>T	uc003lhx.2	+	1	1782	c.1782C>T	c.(1780-1782)CGC>CGT	p.R594R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.R594R	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	594	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGTGCGCGCAGTGGACG	0.672													T	140237415	C	T	140237415	2	4	268	1	0	0	0	0	0	0	0	1	11520	755	27	1		1	PCDHA10	5	140237415	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	8274	140237415	40677845	49	132545											
PCDHB6	56130	broad.mit.edu	37	chr5	140532152	140532152	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccgattatgcccaacTtccctcctcagggcactgag	9	14	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:140532152T>G	uc003lir.2	+	1	2314	c.2314T>G	c.(2314-2316)TTC>GTC	p.F772V	PCDHB6_uc011dah.1_Missense_Mutation_p.F636V	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	772	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGCCCAACTTCCCTCCTCA	0.493													G	140532152	T	G	140532152	3	3	268	1	0	0	0	0	1	0	0	0	11546	1609	56	5	2316	5	PCDHB6	5	140532152	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	294737	140532152	40383108	50	132546											
SPINK5	11005	broad.mit.edu	37	chr5	147491381	147491381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggacgactcccctgTaccagagagaatgatcctat	10	10	0	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:147491381T>C	uc003lox.2	+	19	1816	c.1743T>C	c.(1741-1743)TGT>TGC	p.C581C	SPINK5_uc010jgs.1_Silent_p.C553C|SPINK5_uc010jgr.2_Silent_p.C562C|SPINK5_uc003low.2_Silent_p.C581C|SPINK5_uc003loy.2_Silent_p.C581C	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	581	Kazal-like 9.				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			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCCCCTGTACCAGAGAGA	0.483													C	147491381	T	C	147491381	2	2	268	1	0	0	0	0	0	0	0	1	15061	1644	57	3		3	SPINK5	5	147491381	Silent	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	6959229	147491381	33423879	51	132547											
FGF18	8817	broad.mit.edu	37	chr5	170863108	170863108	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccaggtgctggttgcCgaggagaacgtggacttccg	15	12	0	1	rs145684211		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr5:170863108C>G	uc003mbk.2	+	3	618	c.81C>G	c.(79-81)GCC>GCG	p.A27A		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	27					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGGTTGCCGAGGAGAACG	0.622													G	170863108	C	G	170863108	2	3	268	1	0	0	0	0	0	0	0	1	5846	639	23	5		5	FGF18	5	170863108	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	23371727	170863108	10052152	52	132548											
F13A1	2162	broad.mit.edu	37	chr6	6266873	6266873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccatagggagtccagacAgcaacatacatgcggaattt	10	10	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:6266873A>G	uc003mwv.2	-	4	612	c.489T>C	c.(487-489)GCT>GCC	p.A163A	F13A1_uc011dib.1_Silent_p.A100A	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	163					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GAGTCCAGACAGCAACATACA	0.498													G	6266873	A	G	6266873	2	3	268	1	0	0	0	0	0	0	0	1	5340	175	7	3		3	F13A1	6	6266873	Silent	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08		6266873	164848194	53	132549											
NUDT3	11165	broad.mit.edu	37	chr6	34256668	34256668	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtgatactgcagcacTtttatggcgtcttctatttt	9	7	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:34256668T>A	uc003ojl.2	-	5	683	c.381A>T	c.(379-381)AAA>AAT	p.K127N		NM_006703	NP_006694	O95989	NUDT3_HUMAN	nudix-type motif 3	127	Nudix hydrolase.				cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding				0						ACTGCAGCACTTTTATGGCGT	0.453													A	34256668	T	A	34256668	3	1	268	1	0	0	0	0	1	0	0	0	10740	1606	56	5	141	5	NUDT3	6	34256668	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	27989795	34256668	136858399	54	132550											
FAM83B	222584	broad.mit.edu	37	chr6	54805876	54805876	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagcccaaagaagatTtgctgaaaagttctaaaagc	8	7	1	4			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:54805876T>A	uc003pck.2	+	5	2223	c.2107T>A	c.(2107-2109)TTG>ATG	p.L703M		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	703										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					CAAAGAAGATTTGCTGAAAAG	0.398													A	54805876	T	A	54805876	3	1	268	1	0	0	0	0	1	0	0	0	5634	1838	64	5	2121	5	FAM83B	6	54805876	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	20549208	54805876	116309191	55	132551											
KCNQ5	56479	broad.mit.edu	37	chr6	73830225	73830225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtttggcgtagttacgCagctgatgagaaatctgttt	13	5	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:73830225C>A	uc003pgk.2	+	8	1492	c.1145C>A	c.(1144-1146)GCA>GAA	p.A382E	KCNQ5_uc003pgj.3_Missense_Mutation_p.A382E|KCNQ5_uc011dyh.1_Missense_Mutation_p.A382E|KCNQ5_uc011dyi.1_Missense_Mutation_p.A382E|KCNQ5_uc010kat.2_Missense_Mutation_p.A382E|KCNQ5_uc011dyj.1_Missense_Mutation_p.A382E|KCNQ5_uc011dyk.1_Missense_Mutation_p.A141E	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	382					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGTAGTTACGCAGCTGATGAG	0.433													A	73830225	C	A	73830225	3	1	268	1	0	0	0	0	1	0	0	0	8086	710	25	5	1175	5	KCNQ5	6	73830225	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	19024349	73830225	97284842	56	132552											
C6orf221	154288	broad.mit.edu	37	chr6	74072894	74072894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatcgattggaccctaaCggcgaggctgagatcttggt	14	8	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:74072894C>T	uc003pgt.3	+	2	299	c.246C>T	c.(244-246)AAC>AAT	p.N82N		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	82	KH; atypical.									skin(2)	2						TGGACCCTAACGGCGAGGCTG	0.567													T	74072894	C	T	74072894	2	4	268	1	0	0	0	0	0	0	0	1	2355	535	19	1		1	C6orf221	6	74072894	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	242669	74072894	97042173	57	132553											
TFB1M	51106	broad.mit.edu	37	chr6	155632370	155632373	+	Frame_Shift_Del	DEL	AGCG	AGCG	-													ttttcaaccaccagaagttcAgcgacgtcggcattaagaat							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr6:155632369_155632372CAGCG>C	uc003qqj.4	-	1	290_293	c.235_238CGCTG>G	c.(235-240)gctgaafs	p.A79fs	TFB1M_uc003qqk.3_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	Homo sapiens transcription factor B1, mitochondrial (TFB1M), nuclear gene encoding mitochondrial protein, mRNA.	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		ACCAGAAGTTCAGCGACGTCGGCA	0.426													-	155632373	AGCG	-	155632370	7	5	268	1	0	1	0	1	0	0	0	0	15790	175	7	0	827	0	TFB1M	6	155632370	Frame_Shift_Del	DEL	AGCG	TCGA-HU-A4GF-01A-11D-A24D-08	81559476	155632370	15482697	58	132554											
KIAA0415	9907	broad.mit.edu	37	chr7	4830888	4830888	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgcctagcgtggcccagTttgtgctcacacccagcacg	11	14	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:4830888T>C	uc003sne.2	+	17	2379	c.2296T>C	c.(2296-2298)TTT>CTT	p.F766L	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.F243L	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	766					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CGTGGCCCAGTTTGTGCTCAC	0.687													C	4830888	T	C	4830888	3	2	268	1	0	0	0	0	1	0	0	0	8175	1725	60	3	2362	3	KIAA0415	7	4830888	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08		4830888	154307775	59	132555											
TAX1BP1	8887	broad.mit.edu	37	chr7	27839705	27839705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagtacaggacaattAtaaagtaagtttggtactcc	9	6	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:27839705A>G	uc003szl.2	+	13	1918	c.1760A>G	c.(1759-1761)TAT>TGT	p.Y587C	TAX1BP1_uc011jzo.1_Missense_Mutation_p.Y587C|TAX1BP1_uc003szk.2_Missense_Mutation_p.Y587C|TAX1BP1_uc011jzp.1_Missense_Mutation_p.Y430C	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	587	Potential.				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)	1			GBM - Glioblastoma multiforme(3;0.0823)			CAGGACAATTATAAAGTAAGT	0.279													G	27839705	A	G	27839705	3	3	268	1	0	0	0	0	1	0	0	0	15591	449	16	3	1806	3	TAX1BP1	7	27839705	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	23008817	27839705	131298958	60	132556											
GCK	2645	broad.mit.edu	37	chr7	44193050	44193050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctggaactctgccaGgatctgctctacctgcacag	10	14	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:44193050G>A	uc003tkl.2	-	2	528	c.58C>T	c.(58-60)CTG>TTG	p.L20L	GCK_uc003tkj.1_Silent_p.L19L|GCK_uc003tkk.1_Silent_p.L21L	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	20					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			skin(3)|lung(1)	4						AACTCTGCCAGGATCTGCTCT	0.637													A	44193050	G	A	44193050	2	1	268	1	0	0	0	0	0	0	0	1	6293	991	35	4		4	GCK	7	44193050	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	16353345	44193050	114945613	61	132557											
GRM3	2913	broad.mit.edu	37	chr7	86415918	86415918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagaagcccaacgcgcgCgtcgtggtcctcttcatgcg	12	14	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:86415918C>T	uc003uid.2	+	3	1909	c.810C>T	c.(808-810)CGC>CGT	p.R270R	GRM3_uc010lef.2_Silent_p.R268R|GRM3_uc010leg.2_Silent_p.R142R|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	270	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAACGCGCGCGTCGTGGTCC	0.652													T	86415918	C	T	86415918	2	4	268	1	0	0	0	0	0	0	0	1	6798	755	27	1		1	GRM3	7	86415918	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	42222868	86415918	72722745	62	132558											
ADAM22	53616	broad.mit.edu	37	chr7	87808288	87808288	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtaaaaaagcctggagAtggtgactctttttatagcg	10	5	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:87808288A>T	uc003ujn.2	+	27	2418	c.2339A>T	c.(2338-2340)GAT>GTT	p.D780V	ADAM22_uc003ujk.1_Missense_Mutation_p.D780V|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Missense_Mutation_p.D832V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	780	Cytoplasmic (Potential).				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			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCCTGGAGATGGTGACTCT	0.403													T	87808288	A	T	87808288	3	4	268	1	0	0	0	0	1	0	0	0	244	333	12	5	2445	5	ADAM22	7	87808288	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	1392370	87808288	71330375	63	132559											
CYP3A4	1576	broad.mit.edu	37	chr7	99359762	99359762	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccctttgggaatgaacatCccattgatctcaacatcttt	5	12	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:99359762C>T	uc003urv.1	-	11	1259	c.1155G>A	c.(1153-1155)GGG>GGA	p.G385G	CYP3A4_uc003urw.1_Silent_p.G384G|CYP3A4_uc011kiz.1_Silent_p.G344G|CYP3A4_uc011kja.1_Silent_p.G336G|CYP3A4_uc011kjb.1_Silent_p.G235G	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	385					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			central_nervous_system(3)|ovary(1)	4	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)	GAATGAACATCCCATTGATCT	0.458													T	99359762	C	T	99359762	2	4	268	1	0	0	0	0	0	0	0	1	4178	842	30	4		4	CYP3A4	7	99359762	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	11551474	99359762	59778901	64	132560											
TAF6	6878	broad.mit.edu	37	chr7	99710533	99710533	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagccttctgttgctcTttgggagctggtgggaaagc	14	9	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:99710533T>C	uc003uti.2	-	6	543	c.462A>G	c.(460-462)AAA>AAG	p.K154K	TAF6_uc003utg.2_Silent_p.K76K|TAF6_uc003uth.2_Silent_p.K211K|TAF6_uc003utk.2_Silent_p.K154K|TAF6_uc011kji.1_Silent_p.K191K|TAF6_uc003utj.2_Silent_p.K144K|TAF6_uc003utl.2_Silent_p.K154K|TAF6_uc003utm.2_Silent_p.K154K|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	154					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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTGTTGCTCTTTGGGAGCTG	0.498													C	99710533	T	C	99710533	2	2	268	1	0	0	0	0	0	0	0	1	15527	1606	56	3		3	TAF6	7	99710533	Silent	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	350771	99710533	59428130	65	132561											
ZAN	7455	broad.mit.edu	37	chr7	100349524	100349524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcccacagaaaaacccaCcatctccacagaaaaaccca	2	17	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:100349524C>A	uc003uwj.2	+	14	1961	c.1796C>A	c.(1795-1797)ACC>AAC	p.T599N	ZAN_uc003uwk.2_Missense_Mutation_p.T599N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	599	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAAAACCCACCATCTCCACA	0.463													A	100349524	C	A	100349524	3	1	268	1	0	0	0	0	1	0	0	0	17510	507	18	5	1846	5	ZAN	7	100349524	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	638991	100349524	58789139	66	132562											
CADPS2	93664	broad.mit.edu	37	chr7	122255279	122255279	+	Frame_Shift_Del	DEL	T	T	-													tctgtctgaagtttttctccTtccacttccattgtacagta							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:122255279delT	uc010lkp.2	-	6	1342	c.1179delA	c.(1177-1179)GAAfs	p.E393fs	CADPS2_uc003vkg.3_Frame_Shift_Del_p.E93fs|CADPS2_uc010lkq.2_Frame_Shift_Del_p.E393fs	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	393	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GTTTTTCTCCTTCCACTTCCA	0.373													-	122255279	T	-	122255279	7	5	268	1	0	1	0	1	0	0	0	0	2571	1606	56	0	2855	0	CADPS2	7	122255279	Frame_Shift_Del	DEL	T	TCGA-HU-A4GF-01A-11D-A24D-08	21905755	122255279	36883384	67	132563											
CNOT4	4850	broad.mit.edu	37	chr7	135095396	135095396	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatattcttggtgtttaccCgcctaacgaaagaagaaatt	7	8	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:135095396C>A	uc003vsv.1	-	7	997	c.690G>T	c.(688-690)GCG>GCT	p.A230A	CNOT4_uc003vss.2_Silent_p.A230A|CNOT4_uc011kpz.1_Silent_p.A230A|CNOT4_uc003vst.2_Silent_p.A230A|CNOT4_uc003vsu.1_Silent_p.A230A|CNOT4_uc011kpy.1_Silent_p.A230A	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	230					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				0						GGTGTTTACCCGCCTAACGAA	0.284													A	135095396	C	A	135095396	2	1	268	1	0	0	0	0	0	0	0	1	3621	639	23	5		5	CNOT4	7	135095396	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	12840117	135095396	24043267	68	132564											
NUP205	23165	broad.mit.edu	37	chr7	135304611	135304611	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacagattgcccagagaccTgatgaaccagacaccttaga	8	11	0	6			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:135304611T>C	uc003vsw.2	+	30	4336	c.4305T>C	c.(4303-4305)CCT>CCC	p.P1435P	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1435					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CCCAGAGACCTGATGAACCAG	0.398													C	135304611	T	C	135304611	2	2	268	1	0	0	0	0	0	0	0	1	10759	1567	55	3		3	NUP205	7	135304611	Silent	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	209215	135304611	23834052	69	132565											
SSPO	23145	broad.mit.edu	37	chr7	149524040	149524040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctgctccctcgttgActgtcagggtgagatgtggc	13	11	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr7:149524040A>G	uc010lpk.2	+	106	14759	c.14759A>G	c.(14758-14760)GAC>GGC	p.D4920G	SSPO_uc010lpm.1_Intron|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4920					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCTCGTTGACTGTCAGGGT	0.602													G	149524040	A	G	149524040	3	3	268	1	0	0	0	0	1	0	0	0	15188	275	10	3	15164	3	SSPO	7	149524040	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	14219429	149524040	9614623	70	132566											
CSMD1	64478	broad.mit.edu	37	chr8	2830805	2830805	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggtccccggatcaccacaGaatccaggattatttcctat	9	12	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:2830805G>T	uc011kwk.1	-	57	9150	c.8760C>A	c.(8758-8760)TTC>TTA	p.F2920L	CSMD1_uc011kwj.1_Missense_Mutation_p.F2249L|CSMD1_uc010lrg.2_Missense_Mutation_p.F930L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2920	Extracellular (Potential).|Sushi 22.					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)		GATCACCACAGAATCCAGGAT	0.438													T	2830805	G	T	2830805	3	4	268	1	0	0	0	0	1	0	0	0	3944	933	33	5	1993	5	CSMD1	8	2830805	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		2830805	143533217	71	132567											
MSR1	4481	broad.mit.edu	37	chr8	16012654	16012654	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccgggggtccaggaggacCtttaaaaaaattacagttac	10	9	0	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:16012654C>A	uc003wwz.2	-	6	1016	c.818_splice	c.e6-1	p.G273_splice	MSR1_uc010lsu.2_Splice_Site_p.G291_splice|MSR1_uc003wxa.2_Splice_Site_p.G273_splice|MSR1_uc003wxb.2_Splice_Site_p.G273_splice|MSR1_uc011kxz.1_Splice_Site_p.G47_splice	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1						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			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAGGAGGACCTTTAAAAAAA	0.403													A	16012654	C	A	16012654	5	1	268	1	0	0	0	0	0	0	1	0	9886	695	24	5	606	5	MSR1	8	16012654	Splice_Site	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	13181849	16012654	130351368	72	132568											
PPP2CB	5516	broad.mit.edu	37	chr8	30648824	30648824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccgatcatgacaccaaTtgtatccctgcaggataaaa	6	11	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:30648824T>C	uc003xik.2	-	7	981	c.746A>G	c.(745-747)AAT>AGT	p.N249S		NM_004156	NP_004147	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta	249					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	ATGACACCAATTGTATCCCTG	0.333													C	30648824	T	C	30648824	3	2	268	1	0	0	0	0	1	0	0	0	12381	1493	52	3	191	3	PPP2CB	8	30648824	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	14636170	30648824	115715198	73	132569											
ANK1	286	broad.mit.edu	37	chr8	41552776	41552776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccacacggagccgttttCgctcctcagaaccacgagct	8	16	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:41552776C>T	uc003xok.2	-	27	3118	c.3034G>A	c.(3034-3036)GAA>AAA	p.E1012K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.E328K|ANK1_uc003xoi.2_Missense_Mutation_p.E1012K|ANK1_uc003xoj.2_Missense_Mutation_p.E1012K|ANK1_uc003xol.2_Missense_Mutation_p.E1012K|ANK1_uc003xom.2_Missense_Mutation_p.E1053K	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1012	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCGTTTTCGCTCCTCAGA	0.617													T	41552776	C	T	41552776	3	4	268	1	0	0	0	0	1	0	0	0	620	893	31	1	3001	1	ANK1	8	41552776	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	10903952	41552776	104811246	74	132570											
POLB	5423	broad.mit.edu	37	chr8	42206594	42206594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttagcaactggaaaattaCgtaaactggaaaaggtaaaa	8	4	0	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:42206594C>T	uc003xoz.1	+	4	360	c.247C>T	c.(247-249)CGT>TGT	p.R83C	POLB_uc003xpa.1_Missense_Mutation_p.R83C|POLB_uc011lcs.1_Intron	NM_002690	NP_002681	P06746	DPOLB_HUMAN	DNA-directed DNA polymerase beta	83				R->K: Slight effect. Abolishes methylation by PRMT6 and impairs the polymerase activity; when associated with K-152.	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			ovary(1)|breast(1)	2	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)	TGGAAAATTACGTAAACTGGA	0.318								DNA_polymerases_(catalytic_subunits)					T	42206594	C	T	42206594	3	4	268	1	0	0	0	0	1	0	0	0	12189	536	19	1	261	1	POLB	8	42206594	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	653818	42206594	104157428	75	132571											
ARFGEF1	10565	broad.mit.edu	37	chr8	68140335	68140335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaaagtaattcatccaTagacacagcacagagccaac	8	11	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:68140335T>C	uc003xxo.1	-	25	3844	c.3454A>G	c.(3454-3456)ATG>GTG	p.M1152V	ARFGEF1_uc003xxl.1_Missense_Mutation_p.M606V|ARFGEF1_uc003xxn.1_Missense_Mutation_p.M135V	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1152					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			AATTCATCCATAGACACAGCA	0.343													C	68140335	T	C	68140335	3	2	268	1	0	0	0	0	1	0	0	0	852	1406	49	3	2155	3	ARFGEF1	8	68140335	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	25933741	68140335	78223687	76	132572											
ARFGEF1	10565	broad.mit.edu	37	chr8	68213553	68213553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtctgcttcaataaaaTttgtctttgatttcactggt	6	7	4	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:68213553T>C	uc003xxo.1	-	3	608	c.218A>G	c.(217-219)AAT>AGT	p.N73S		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	73					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	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)			TTCAATAAAATTTGTCTTTGA	0.403													C	68213553	T	C	68213553	3	2	268	1	0	0	0	0	1	0	0	0	852	1493	52	3	5479	3	ARFGEF1	8	68213553	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	73218	68213553	78150469	77	132573											
SPAG1	6674	broad.mit.edu	37	chr8	101203630	101203630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcagctcttctgcgtcGtgctactacatataaacatc	5	11	3	0	rs144608097	by1000genomes	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:101203630G>A	uc003yjh.1	+	9	931	c.845G>A	c.(844-846)CGT>CAT	p.R282H	SPAG1_uc003yjg.1_Missense_Mutation_p.R282H|SPAG1_uc003yji.1_Missense_Mutation_p.R282H	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	282	TPR 3.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	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)		CTTCTGCGTCGTGCTACTACA	0.358													A	101203630	G	A	101203630	3	1	268	1	0	0	0	0	1	0	0	0	14975	1145	40	1	875	1	SPAG1	8	101203630	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	32990077	101203630	45160392	78	132574											
KCNV1	27012	broad.mit.edu	37	chr8	110980822	110980822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgtcatcccaagggagCgtaatcctgcaacagaacaa	9	10	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr8:110980822C>T	uc003ynr.3	-	3	1340	c.998G>A	c.(997-999)CGC>CAC	p.R333H	KCNV1_uc010mcw.2_Missense_Mutation_p.R333H	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	333	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCCAAGGGAGCGTAATCCTGC	0.318													T	110980822	C	T	110980822	3	4	268	1	0	0	0	0	1	0	0	0	8094	768	27	1	508	1	KCNV1	8	110980822	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	9777192	110980822	35383200	79	132575											
KANK1	23189	broad.mit.edu	37	chr9	742406	742406	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtcacctagaggacaacGtaagctgtctccattgggcc	11	12	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:742406G>A	uc003zgl.1	+	14	4546	c.3897_splice	c.e14+1	p.N1299_splice	KANK1_uc003zgn.1_Splice_Site_p.N1299_splice|KANK1_uc003zgs.1_Splice_Site_p.N1141_splice|KANK1_uc010mgx.1_Splice_Site_p.N277_splice|KANK1_uc010mgy.1_Splice_Site_p.N211_splice|KANK1_uc003zgt.1_Splice_Site_p.N211_splice	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a						negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		AGAGGACAACGTAAGCTGTCT	0.632													A	742406	G	A	742406	5	1	268	1	0	0	0	0	0	0	1	0	7976	1159	40	1	3932	1	KANK1	9	742406	Splice_Site	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		742406	140471025	80	132576											
NTRK2	4915	broad.mit.edu	37	chr9	87635235	87635235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgtgttgtgggagattTtcacctatggcaaacagccc	13	9	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:87635235T>G	uc004aoa.1	+	19	3177	c.2239T>G	c.(2239-2241)TTC>GTC	p.F747V	NTRK2_uc004anz.1_Missense_Mutation_p.F763V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	747	Protein kinase.|Cytoplasmic (Potential).				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			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GTGGGAGATTTTCACCTATGG	0.552										TSP Lung(25;0.17)			G	87635235	T	G	87635235	3	3	268	1	0	0	0	0	1	0	0	0	10707	1841	64	5	2428	5	NTRK2	9	87635235	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	86892829	87635235	53578196	81	132577											
KIAA1529	57653	broad.mit.edu	37	chr9	100126341	100126341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcccacagcttcacacCgcaccccaagcccaacaaaa	4	18	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:100126341C>T	uc011lut.1	+	41	5233	c.4460C>T	c.(4459-4461)CCG>CTG	p.P1487L	KIAA1529_uc004axe.1_Missense_Mutation_p.P1293L|KIAA1529_uc004axg.1_Missense_Mutation_p.P1348L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AGCTTCACACCGCACCCCAAG	0.592													T	100126341	C	T	100126341	3	4	268	1	0	0	0	0	1	0	0	0	8240	652	23	1	3996	1	KIAA1529	9	100126341	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	12491106	100126341	41087090	82	132578											
CACNA1B	774	broad.mit.edu	37	chr9	140846795	140846795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcggctccttcTtcatgctcaacctggtgctg	7	14	6	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr9:140846795T>G	uc004cog.2	+	7	1181	c.1036T>G	c.(1036-1038)TTC>GTC	p.F346V		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	346	Helical; Name=S6 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGGCTCCTTCTTCATGCTCAA	0.587													G	140846795	T	G	140846795	3	3	268	1	0	0	0	0	1	0	0	0	2539	1609	56	5	1062	5	CACNA1B	9	140846795	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	40720454	140846795	366636	83	132579											
KIAA1462	57608	broad.mit.edu	37	chr10	30336525	30336525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctctcggtgtgctgcGgcggctttcggagtcactca	15	12	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:30336525G>A	uc001iux.2	-	1	276	c.217C>T	c.(217-219)CGC>TGC	p.R73C	KIAA1462_uc001iuy.2_Missense_Mutation_p.R73C|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.R73C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	73										ovary(4)	4						GGTGTGCTGCGGCGGCTTTCG	0.622													A	30336525	G	A	30336525	3	1	268	1	0	0	0	0	1	0	0	0	8234	1116	39	1	3874	1	KIAA1462	10	30336525	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		30336525	105198222	84	132580											
ZNF488	118738	broad.mit.edu	37	chr10	48371038	48371038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctttagcaaaccaaccaagcGaccagcagagaggcctgagc	10	13	0	2	rs150285927		TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:48371038G>T	uc001jex.2	+	2	668	c.506G>T	c.(505-507)CGA>CTA	p.R169L	ZNF488_uc001jey.2_Missense_Mutation_p.R62L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCAACCAAGCGACCAGCAGAG	0.582													T	48371038	G	T	48371038	3	4	268	1	0	0	0	0	1	0	0	0	17937	1058	37	5	508	5	ZNF488	10	48371038	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	18034513	48371038	87163709	85	132581											
PCDH15	65217	broad.mit.edu	37	chr10	55587203	55587203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcacctggcggaggcggCggcggcggcgggggcgctgc	23	13	0	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:55587203C>T	uc001jju.1	-	32	4712	c.4317G>A	c.(4315-4317)CCG>CCA	p.P1439P	PCDH15_uc010qhq.1_Silent_p.P1444P|PCDH15_uc010qhr.1_Silent_p.P1439P|PCDH15_uc010qhs.1_Silent_p.P1451P|PCDH15_uc010qht.1_Silent_p.P1446P|PCDH15_uc010qhu.1_Silent_p.P1439P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1436P|PCDH15_uc010qhw.1_Silent_p.P1399P|PCDH15_uc010qhx.1_Silent_p.P1368P|PCDH15_uc010qhy.1_Silent_p.P1444P|PCDH15_uc010qhz.1_Silent_p.P1439P|PCDH15_uc010qia.1_Silent_p.P1417P|PCDH15_uc010qib.1_Silent_p.P1414P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1439	Poly-Pro.|Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggaggcggcggcggcggcg	0.433										HNSCC(58;0.16)			T	55587203	C	T	55587203	2	4	268	1	0	0	0	0	0	0	0	1	11511	755	27	1		1	PCDH15	10	55587203	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	7216165	55587203	79947544	86	132582											
LRIT1	26103	broad.mit.edu	37	chr10	85991924	85991924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagcagacaagcagcGtgagaggcagggcaatgacg	15	10	0	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:85991924G>A	uc001kcz.1	-	4	1653	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	544	Helical; (Potential).					integral to endoplasmic reticulum membrane					0						GACAAGCAGCGTGAGAGGCAG	0.517													A	85991924	G	A	85991924	3	1	268	1	0	0	0	0	1	0	0	0	8947	1145	40	1	244	1	LRIT1	10	85991924	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	30404721	85991924	49542823	87	132583											
SMC3	9126	broad.mit.edu	37	chr10	112352843	112352843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttaggatgctattcctAtgatcagcaaactgaggtac	8	7	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr10:112352843A>G	uc001kze.2	+	18	1951	c.1825A>G	c.(1825-1827)ATG>GTG	p.M609V		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	609	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCTATTCCTATGATCAGCAA	0.333													G	112352843	A	G	112352843	3	3	268	1	0	0	0	0	1	0	0	0	14784	449	16	3	1895	3	SMC3	10	112352843	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	26360919	112352843	23181904	88	132584											
OR52E6	390078	broad.mit.edu	37	chr11	5862525	5862525	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagagaaatactgccaagAccaaacataatgttgacttt	7	7	0	4			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:5862525A>G	uc010qzq.1	-	1	603	c.603T>C	c.(601-603)GGT>GGC	p.G201G	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGCCAAGACCAAACATAA	0.483													G	5862525	A	G	5862525	2	3	268	1	0	0	0	0	0	0	0	1	11117	262	10	3		3	OR52E6	11	5862525	Silent	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08		5862525	129143991	89	132585											
TPP1	1200	broad.mit.edu	37	chr11	6638271	6638271	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgaggtcaagttgtatcGcttacggatcacagaggggg	15	6	2	2	rs119455955	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:6638271G>A	uc001mel.1	-	6	683	c.622C>T	c.(622-624)CGA>TGA	p.R208*	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	208					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				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAGTTGTATCGCTTACGGATC	0.587													A	6638271	G	A	6638271	4	1	268	1	0	0	0	0	0	1	0	0	16408	1095	38	1	1101	1	TPP1	11	6638271	Nonsense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	775746	6638271	128368245	90	132586											
SLC5A12	159963	broad.mit.edu	37	chr11	26725134	26725134	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgctgaatagttgattgattGaccccatagattccgagcca	9	10	0	5			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:26725134G>T	uc001mra.2	-	6	1078	c.765C>A	c.(763-765)GTC>GTA	p.V255V	SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.V255V	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	255	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TTGATTGATTGACCCCATAGA	0.393													T	26725134	G	T	26725134	2	4	268	1	0	0	0	0	0	0	0	1	14664	1277	45	5		5	SLC5A12	11	26725134	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	20086863	26725134	108281382	91	132587											
ABTB2	25841	broad.mit.edu	37	chr11	34182568	34182568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgcaccaccgagtacCgcgactgcgagaacgaggtc	13	14	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:34182568C>T	uc001mvl.1	-	11	1951	c.1721G>A	c.(1720-1722)CGG>CAG	p.R574Q		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	574							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CACCGAGTACCGCGACTGCGA	0.617													T	34182568	C	T	34182568	3	4	268	1	0	0	0	0	1	0	0	0	103	652	23	1	826	1	ABTB2	11	34182568	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	7457434	34182568	100823948	92	132588											
MS4A14	84689	broad.mit.edu	37	chr11	60183179	60183179	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcccaaattttcagaggaAgaaattgaacctttgcctcc	6	11	2	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:60183179A>C	uc001npj.2	+	5	1303	c.738A>C	c.(736-738)GAA>GAC	p.E246D	MS4A14_uc001npi.2_Missense_Mutation_p.E134D|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.E229D|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	246						integral to membrane	receptor activity			breast(1)	1						TTTCAGAGGAAGAAATTGAAC	0.388													C	60183179	A	C	60183179	3	2	268	1	0	0	0	0	1	0	0	0	9858	69	3	5	756	5	MS4A14	11	60183179	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	26000611	60183179	74823337	93	132589											
SUV420H1	51111	broad.mit.edu	37	chr11	67938540	67938540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagaacccatctccatAataacaagaaatttcttctc	2	12	3	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:67938540A>C	uc001onm.1	-	9	1175	c.919T>G	c.(919-921)TAT>GAT	p.Y307D	SUV420H1_uc009yse.1_Translation_Start_Site|SUV420H1_uc001onn.1_Missense_Mutation_p.Y135D|SUV420H1_uc009ysf.2_Missense_Mutation_p.Y67D|SUV420H1_uc001ono.1_Missense_Mutation_p.Y307D|SUV420H1_uc001onp.2_Missense_Mutation_p.Y307D|SUV420H1_uc010rqa.1_Missense_Mutation_p.Y284D|SUV420H1_uc001onq.2_Missense_Mutation_p.Y307D	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	307	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CCATCTCCATAATAACAAGAA	0.353													C	67938540	A	C	67938540	3	2	268	1	0	0	0	0	1	0	0	0	15411	362	13	5	1758	5	SUV420H1	11	67938540	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	7755361	67938540	67067976	94	132590											
FAT3	120114	broad.mit.edu	37	chr11	92087432	92087432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgacttttattcaatTaatagacagggaccatattt	5	6	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:92087432T>C	uc001pdj.3	+	1	2171	c.2154T>C	c.(2152-2154)ATT>ATC	p.I718I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	718	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTATTCAATTAATAGACAGG	0.393										TCGA Ovarian(4;0.039)			C	92087432	T	C	92087432	2	2	268	1	0	0	0	0	0	0	0	1	5691	1742	61	3		3	FAT3	11	92087432	Silent	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	24148892	92087432	42919084	95	132591											
FLI1	2313	broad.mit.edu	37	chr11	128638116	128638116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatggacgagaagaatggcCcccctcctcccaacatgacc	8	15	0	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:128638116C>T	uc010sbu.1	+	3	675	c.334C>T	c.(334-336)CCC>TCC	p.P112S	FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.P79S|FLI1_uc009zci.2_Missense_Mutation_p.P46S|FLI1_uc001qen.2_Missense_Mutation_p.P79S	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	112	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	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)		GAAGAATGGCCCCCCTCCTCC	0.582			T	EWSR1	Ewing sarcoma								T	128638116	C	T	128638116	3	4	268	1	0	0	0	0	1	0	0	0	5924	623	22	4	344	4	FLI1	11	128638116	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	36550684	128638116	6368400	96	132592											
IGSF9B	22997	broad.mit.edu	37	chr11	133802003	133802003	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacggccgtccttgttccacTtgaccacggtggccggtggt	14	13	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr11:133802003T>A	uc001qgx.3	-	8	1304	c.1073A>T	c.(1072-1074)AAG>ATG	p.K358M	IGSF9B_uc001qgy.1_Missense_Mutation_p.K200M	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	358	Extracellular (Potential).|Ig-like 4.					integral to membrane|plasma membrane					0	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)		CTTGTTCCACTTGACCACGGT	0.612													A	133802003	T	A	133802003	3	1	268	1	0	0	0	0	1	0	0	0	7606	1609	56	5	3024	5	IGSF9B	11	133802003	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	5163887	133802003	1204513	97	132593											
ANO2	57101	broad.mit.edu	37	chr12	5708660	5708660	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttctcactcatttccatGtactccggagtcagtcctgt	9	12	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:5708660G>T	uc001qnm.2	-	21	2295	c.2223C>A	c.(2221-2223)TAC>TAA	p.Y741*		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	746	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TCATTTCCATGTACTCCGGAG	0.542													T	5708660	G	T	5708660	4	4	268	1	0	0	0	0	0	1	0	0	697	1372	48	5	797	5	ANO2	12	5708660	Nonsense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		5708660	128143235	98	132594											
LTBR	4055	broad.mit.edu	37	chr12	6499832	6499832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttcctacaggtaccaAtggcattcatgtcaccggcg	8	15	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:6499832A>G	uc001qny.1	+	10	1205	c.1037A>G	c.(1036-1038)AAT>AGT	p.N346S	LTBR_uc010sfc.1_Missense_Mutation_p.N327S|LTBR_uc001qnz.1_Missense_Mutation_p.N341S	NM_002342	NP_002333	P36941	TNR3_HUMAN	lymphotoxin beta receptor precursor	346	Cytoplasmic (Potential).				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			lung(2)	2						ACAGGTACCAATGGCATTCAT	0.562													G	6499832	A	G	6499832	3	3	268	1	0	0	0	0	1	0	0	0	9077	101	4	3	1075	3	LTBR	12	6499832	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	791172	6499832	127352063	99	132595											
LRRK2	120892	broad.mit.edu	37	chr12	40671948	40671948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctatggatgattacttaaAaaatgtgatgctagagagag	11	3	0	4			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:40671948A>C	uc001rmg.3	+	18	2247	c.2126A>C	c.(2125-2127)AAA>ACA	p.K709T	LRRK2_uc001rmh.1_Missense_Mutation_p.K331T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	709					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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATTACTTAAAAAATGTGATG	0.373													C	40671948	A	C	40671948	3	2	268	1	0	0	0	0	1	0	0	0	9033	14	1	5	2196	5	LRRK2	12	40671948	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	34172116	40671948	93179947	100	132596											
ADAMTS20	80070	broad.mit.edu	37	chr12	43826503	43826503	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacagtagtggtcatcAacttgaacagtctgtccttc	7	12	4	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:43826503A>G	uc010skx.1	-	20	2832	c.2832T>C	c.(2830-2832)GTT>GTC	p.V944V	ADAMTS20_uc001rno.1_Silent_p.V98V|ADAMTS20_uc001rnp.1_Silent_p.V98V	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	944	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)		AGTGGTCATCAACTTGAACAG	0.428													G	43826503	A	G	43826503	2	3	268	1	0	0	0	0	0	0	0	1	266	117	5	3		3	ADAMTS20	12	43826503	Silent	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	3154555	43826503	90025392	101	132597											
NEUROD4	58158	broad.mit.edu	37	chr12	55421113	55421113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcatgtgcattcaactcCttttcaggctggtacccccc	9	14	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:55421113C>A	uc001sgp.3	+	2	1268	c.890C>A	c.(889-891)CCT>CAT	p.P297H		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	297					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						CATTCAACTCCTTTTCAGGCT	0.463													A	55421113	C	A	55421113	3	1	268	1	0	0	0	0	1	0	0	0	10350	681	24	5	892	5	NEUROD4	12	55421113	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	11594610	55421113	78430782	102	132598											
DNAJC14	85406	broad.mit.edu	37	chr12	56221845	56221845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctccttcgttggaaagcGgtgccgctgtctccgggatg	13	12	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:56221845G>A	uc001shx.1	-	2	802	c.598C>T	c.(598-600)CGC>TGC	p.R200C	DNAJC14_uc001shu.1_Missense_Mutation_p.R200C|DNAJC14_uc009zob.1_Missense_Mutation_p.R200C|DNAJC14_uc001shy.1_Missense_Mutation_p.R200C	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	200					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						GTTGGAAAGCGGTGCCGCTGT	0.552													A	56221845	G	A	56221845	3	1	268	1	0	0	0	0	1	0	0	0	4633	1116	39	1	1534	1	DNAJC14	12	56221845	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	800732	56221845	77630050	103	132599											
TBK1	29110	broad.mit.edu	37	chr12	64891001	64891003	+	In_Frame_Del	DEL	GAA	GAA	-													ctaatcagtgttttgatattGaagaagaagtatcaaaatat							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:64891000_64891002TGAA>T	uc001ssc.2	+	17	2079_2081	c.1920_1922TGAA>T	c.(1918-1923)attgaa>atTa	p.E643del		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	643					I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|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-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)		GTTTTGATATTGAAGAAGAAGTA	0.31													-	64891003	GAA	-	64891001	7	5	268	1	0	1	0	1	0	0	0	0	15634	1291	45	0	1987	0	TBK1	12	64891001	In_Frame_Del	DEL	GAA	TCGA-HU-A4GF-01A-11D-A24D-08	8669156	64891001	68960894	104	132600											
C12orf50	160419	broad.mit.edu	37	chr12	88376963	88376963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcattatatgatgttgacGtatatttgtctgagggaaaa	9	3	2	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:88376963G>A	uc001tam.1	-	12	1304	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	379										skin(2)|ovary(1)	3						TGATGTTGACGTATATTTGTC	0.294													A	88376963	G	A	88376963	3	1	268	1	0	0	0	0	1	0	0	0	1695	1145	40	1	116	1	C12orf50	12	88376963	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	23485962	88376963	45474932	105	132601											
CLIP1	6249	broad.mit.edu	37	chr12	122801401	122801401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctttaagtgtgtccAacttaaagaccaagagaaaa	7	6	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:122801401A>C	uc001ucg.1	-	18	3474	c.3368T>G	c.(3367-3369)TTG>TGG	p.L1123W	CLIP1_uc001uch.1_Missense_Mutation_p.L1112W|CLIP1_uc001uci.1_Missense_Mutation_p.L1077W|CLIP1_uc001ucj.1_Missense_Mutation_p.L698W	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1123	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	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)		AAGTGTGTCCAACTTAAAGAC	0.303													C	122801401	A	C	122801401	3	2	268	1	0	0	0	0	1	0	0	0	3532	144	5	5	980	5	CLIP1	12	122801401	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	34424438	122801401	11050494	106	132602											
HIP1R	9026	broad.mit.edu	37	chr12	123345886	123345887	+	Frame_Shift_Ins	INS	-	-	G													gagctggagaagacgctggaINSggctgaacgcatgcggctgg							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:123345886_123345887insG	uc001udj.1	+	31	3043_3044	c.2984_2985insG	c.(2983-2985)GAGfs	p.E995fs	HIP1R_uc001udk.1_Frame_Shift_Ins_p.E260fs	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	995	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	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)		AAGACGCTGGAGGCTGAACGCA	0.673													G	123345887	-	G	123345886	7	5	268	1	0	1	1	0	0	0	0	0	7115	304	11	0	3106	0	HIP1R	12	123345886	Frame_Shift_Ins	INS	-	TCGA-HU-A4GF-01A-11D-A24D-08	544485	123345886	10506009	107	132603	688	2									
HIP1R	9026	broad.mit.edu	37	chr12	123345887	123345888	+	Frame_Shift_Ins	INS	-	-	G													agctggagaagacgctggagINSgctgaacgcatgcggctggg							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr12:123345886_123345887A>AG	uc001udj.1	+	30	3043_3044	c.2984_2985A>AG	c.(2983-2985)gagfs	p.E995fs	HIP1R_uc001udk.1_Frame_Shift_Ins_p.E260fs	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	995	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)		AAGACGCTGGAGGCTGAACGCA	0.673													G	123345888	-	G	123345887	7	5	268	1	0	1	1	0	0	0	0	0	7115	991	35	0	3107	0	HIP1R	12	123345887	Frame_Shift_Ins	INS	-	TCGA-HU-A4GF-01A-11D-A24D-08	1	123345887	10506008	108	132604	688	2									
AKAP11	11215	broad.mit.edu	37	chr13	42876004	42876004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacttgaaggaatctgctaAggatcaaccactgaaaaagc	9	8	2	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr13:42876004A>T	uc001uys.1	+	8	3297	c.3122A>T	c.(3121-3123)AAG>ATG	p.K1041M		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1041					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		GAATCTGCTAAGGATCAACCA	0.423													T	42876004	A	T	42876004	3	4	268	1	0	0	0	0	1	0	0	0	447	72	3	5	3144	5	AKAP11	13	42876004	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08		42876004	72293874	109	132605											
C13orf16	121793	broad.mit.edu	37	chr13	111980581	111980581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacaacgtctccagggaccGatgccaggagctcgggtgct	13	13	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr13:111980581G>A	uc001vsa.2	+	3	239	c.110G>A	c.(109-111)CGA>CAA	p.R37Q		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	37	Extracellular (Potential).					integral to membrane					0	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)		all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCAGGGACCGATGCCAGGAG	0.567													A	111980581	G	A	111980581	3	1	268	1	0	0	0	0	1	0	0	0	1719	1058	37	1	116	1	C13orf16	13	111980581	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	69104577	111980581	3189297	110	132606											
SLC7A7	9056	broad.mit.edu	37	chr14	23243205	23243205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgatgaggaagtaaaAgggcaggcctgagagggcaa	16	5	1	4			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:23243205A>G	uc001wgr.3	-	9	1504	c.1366T>C	c.(1366-1368)TTT>CTT	p.F456L	SLC7A7_uc001wgs.3_Missense_Mutation_p.F456L|SLC7A7_uc001wgt.3_Missense_Mutation_p.F456L|SLC7A7_uc001wgu.3_Missense_Mutation_p.F456L|SLC7A7_uc001wgv.3_Missense_Mutation_p.F456L	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	456	Helical; (Potential).				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			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGAAGTAAAAGGGCAGGCCT	0.517													G	23243205	A	G	23243205	3	3	268	1	0	0	0	0	1	0	0	0	14703	72	3	3	177	3	SLC7A7	14	23243205	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08		23243205	84106335	111	132607											
MYH6	4624	broad.mit.edu	37	chr14	23873529	23873529	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgggaggagttgtcgttccgGacagtcttggcattgccgaa	15	9	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:23873529G>T	uc001wjv.2	-	8	778	c.711C>A	c.(709-711)GTC>GTA	p.V237V	MYH6_uc010akp.1_Silent_p.V237V	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	237	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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGTCGTTCCGGACAGTCTTGG	0.572													T	23873529	G	T	23873529	2	4	268	1	0	0	0	0	0	0	0	1	10038	1161	41	5		5	MYH6	14	23873529	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	630324	23873529	83476011	112	132608											
ABHD12B	145447	broad.mit.edu	37	chr14	51347206	51347206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggggggaagatgccaaGgggaaggactgttgctggta	19	6	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:51347206G>A	uc001wys.2	+	4	387	c.372G>A	c.(370-372)AAG>AAA	p.K124K	ABHD12B_uc001wyq.2_Silent_p.K17K|ABHD12B_uc001wyr.2_Silent_p.K47K|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	124							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					AAGATGCCAAGGGGAAGGACT	0.507													A	51347206	G	A	51347206	2	1	268	1	0	0	0	0	0	0	0	1	77	991	35	4		4	ABHD12B	14	51347206	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	27473677	51347206	56002334	113	132609											
KIAA1409	57578	broad.mit.edu	37	chr14	94008914	94008914	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactgcgtatatgatggatGatgaagtgggaagtctggtg	15	5	1	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:94008914G>A	uc001ybv.1	+	11	1179	c.1096G>A	c.(1096-1098)GAT>AAT	p.D366N	KIAA1409_uc001ybs.1_Missense_Mutation_p.D366N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	543						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TATGATGGATGATGAAGTGGG	0.517													A	94008914	G	A	94008914	3	1	268	1	0	0	0	0	1	0	0	0	8230	1290	45	4	1138	4	KIAA1409	14	94008914	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	42661708	94008914	13340626	114	132610											
AK7	122481	broad.mit.edu	37	chr14	96887177	96887177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaggattctgaggttccaTtcactgaagaagattatcga	11	6	2	4			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr14:96887177T>C	uc001yfn.2	+	5	561	c.517T>C	c.(517-519)TTC>CTC	p.F173L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	173	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGAGGTTCCATTCACTGAAGA	0.338													C	96887177	T	C	96887177	3	2	268	1	0	0	0	0	1	0	0	0	444	1493	52	3	535	3	AK7	14	96887177	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	2878263	96887177	10462363	115	132611											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499721	59499721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggatatcttaacttaTgtagcttggaagttgagtgc	11	6	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:59499721T>C	uc002agb.2	+	1	680	c.582T>C	c.(580-582)TAT>TAC	p.Y194Y	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	194					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	TCTTAACTTATGTAGCTTGGA	0.403													C	59499721	T	C	59499721	2	2	268	1	0	0	0	0	0	0	0	1	8700	1471	51	3		3	LDHAL6B	15	59499721	Silent	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08		59499721	43031671	116	132612											
ZNF609	23060	broad.mit.edu	37	chr15	64967247	64967248	+	Frame_Shift_Ins	INS	-	-	A													ggacaagaaaaagaaagacaINSaaaaaaagaaggaatcttca							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:64967246_64967247C>CA	uc002ann.3	+	3	2193_2194	c.2193_2194C>CA	c.(2191-2196)gacaaafs	p.D731fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	731	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		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						AAAAGAAAGACAAAAAAAAGAA	0.49													A	64967248	-	A	64967247	7	5	268	1	0	1	1	0	0	0	0	0	18032	131	5	0	2208	0	ZNF609	15	64967247	Frame_Shift_Ins	INS	-	TCGA-HU-A4GF-01A-11D-A24D-08	5467526	64967247	37564145	117	132613											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118849	68118849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcatcttccactcgcaccGaacacccgacgccaagtaca	6	17	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:68118849G>A	uc002aqy.1	+	2	656	c.656G>A	c.(655-657)CGA>CAA	p.R219Q		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	228					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						CACTCGCACCGAACACCCGAC	0.567													A	68118849	G	A	68118849	3	1	268	1	0	0	0	0	1	0	0	0	8655	1058	37	1	662	1	LBXCOR1	15	68118849	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	3151602	68118849	34412543	118	132614											
ANP32A	8125	broad.mit.edu	37	chr15	69080237	69080237	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcattcgaccgactgtTgtccaggacaagttctttca	8	12	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr15:69080237T>G	uc002arl.2	-	2	247	c.76A>C	c.(76-78)AAC>CAC	p.N26H		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	26	LRR 1.				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				0						GACCGACTGTTGTCCAGGACA	0.512													G	69080237	T	G	69080237	3	3	268	1	0	0	0	0	1	0	0	0	705	1812	63	5	697	5	ANP32A	15	69080237	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	961388	69080237	33451155	119	132615											
CNGB1	1258	broad.mit.edu	37	chr16	57954299	57954299	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccagactcacagggcttgGggctctcctcatcagaggtg	12	13	4	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr16:57954299G>C	uc002emt.2	-	19	1858	c.1793C>G	c.(1792-1794)CCC>CGC	p.P598R	CNGB1_uc010cdh.2_Missense_Mutation_p.P592R	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	598	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						ACAGGGCTTGGGGCTCTCCTC	0.592													C	57954299	G	C	57954299	3	2	268	1	0	0	0	0	1	0	0	0	3600	1232	43	5	2022	5	CNGB1	16	57954299	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		57954299	32400454	120	132616											
TP53	7157	broad.mit.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	15	5	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:7578542G>C	uc002gim.2	-	5	582	c.388C>G	c.(388-390)CTC>GTC	p.L130V	TP53_uc002gig.1_Missense_Mutation_p.L130V|TP53_uc002gih.2_Missense_Mutation_p.L130V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130V|TP53_uc010cni.1_Missense_Mutation_p.L130V|TP53_uc002gij.2_Missense_Mutation_p.L130V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37V|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	130	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		ATCTTGTTGAGGGCAGGGGAG	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			C	7578542	G	C	7578542	3	2	268	1	0	0	0	0	1	0	0	0	16378	1000	35	5	910	5	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		7578542	73616668	121	132617											
MYH4	4622	broad.mit.edu	37	chr17	10369962	10369962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaagactgatgtcttgGcatcaaaaggcttgttctga	9	9	3	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:10369962G>A	uc002gmn.2	-	3	212	c.101C>T	c.(100-102)GCC>GTC	p.A34V	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	34	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			ovary(10)|skin(2)|central_nervous_system(1)	13						TGATGTCTTGGCATCAAAAGG	0.507													A	10369962	G	A	10369962	3	1	268	1	0	0	0	0	1	0	0	0	10037	1203	42	2	5870	2	MYH4	17	10369962	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	2791420	10369962	70825248	122	132618											
DNAH9	1770	broad.mit.edu	37	chr17	11713633	11713633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgtttctcatgactgatgCccaagtggctgatgagaggt	13	7	1	4			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:11713633C>A	uc002gne.2	+	45	8722	c.8654C>A	c.(8653-8655)GCC>GAC	p.A2885D	DNAH9_uc010coo.2_Missense_Mutation_p.A2179D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2885	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		ATGACTGATGCCCAAGTGGCT	0.458													A	11713633	C	A	11713633	3	1	268	1	0	0	0	0	1	0	0	0	4608	739	26	5	8832	5	DNAH9	17	11713633	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	1343671	11713633	69481577	123	132619											
ARL4D	379	broad.mit.edu	37	chr17	41477310	41477310	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcgggggatcgcgtggcatCaccttccaagtgtgggacgt	15	11	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:41477310C>T	uc002idt.2	+	2	391	c.210C>T	c.(208-210)ATC>ATT	p.I70I		NM_001661	NP_001652	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	70					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CGCGTGGCATCACCTTCCAAG	0.602													T	41477310	C	T	41477310	2	4	268	1	0	0	0	0	0	0	0	1	938	816	29	4		4	ARL4D	17	41477310	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	29763677	41477310	39717900	124	132620											
LUC7L3	51747	broad.mit.edu	37	chr17	48819054	48819054	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaaaaatgaagaaaaaattCaggttctaacagacaaaatt	6	5	2	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:48819054C>G	uc002isr.2	+	5	505	c.388C>G	c.(388-390)CAG>GAG	p.Q130E	LUC7L3_uc002isp.1_Missense_Mutation_p.Q54E|LUC7L3_uc010wmw.1_Missense_Mutation_p.Q54E|LUC7L3_uc002isq.2_Missense_Mutation_p.Q130E|LUC7L3_uc002iss.2_Missense_Mutation_p.Q130E	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	130	Potential.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						AGAAAAAATTCAGGTTCTAAC	0.358													G	48819054	C	G	48819054	3	3	268	1	0	0	0	0	1	0	0	0	9084	827	29	5	406	5	LUC7L3	17	48819054	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	7341744	48819054	32376156	125	132621											
ACE	1636	broad.mit.edu	37	chr17	61557756	61557756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcccccaccttcgaggaCgatctggaacacctctacca	6	17	2	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr17:61557756C>T	uc002jau.1	+	5	736	c.714C>T	c.(712-714)GAC>GAT	p.D238D	ACE_uc010wpi.1_Silent_p.D238D|ACE_uc010ddu.1_Silent_p.D55D	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	238	Extracellular (Potential).|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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	CCTTCGAGGACGATCTGGAAC	0.607													T	61557756	C	T	61557756	2	4	268	1	0	0	0	0	0	0	0	1	136	535	19	1		1	ACE	17	61557756	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	12738702	61557756	19637454	126	132622											
CEP192	55125	broad.mit.edu	37	chr18	13059147	13059147	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcataagacctcatgccacaGaagagataaaagtgcttttt	7	8	2	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr18:13059147G>A	uc010xac.1	+	21	4404	c.4324G>A	c.(4324-4326)GAA>AAA	p.E1442K	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.E967K|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.E1183K	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1442										ovary(4)|pancreas(1)	5						TCATGCCACAGAAGAGATAAA	0.393													A	13059147	G	A	13059147	3	1	268	1	0	0	0	0	1	0	0	0	3251	943	33	4	4402	4	CEP192	18	13059147	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		13059147	65018101	127	132623											
DCC	1630	broad.mit.edu	37	chr18	51053116	51053116	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagagccacaaaccaacagAggattcagccaatgtaaggg	12	9	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr18:51053116A>T	uc002lfe.1	+	28	4828	c.4241A>T	c.(4240-4242)GAG>GTG	p.E1414V	DCC_uc010dpf.1_Missense_Mutation_p.E1047V	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1414	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACCAACAGAGGATTCAGCC	0.483													T	51053116	A	T	51053116	3	4	268	1	0	0	0	0	1	0	0	0	4282	304	11	5	4351	5	DCC	18	51053116	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	37993969	51053116	27024132	128	132624											
CDH7	1005	broad.mit.edu	37	chr18	63511131	63511131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcgctttctgagcttGggtccgttcagtgacacgac	11	13	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr18:63511131G>A	uc002ljz.2	+	7	1390	c.1065G>A	c.(1063-1065)TTG>TTA	p.L355L	CDH7_uc002lka.2_Silent_p.L355L|CDH7_uc002lkb.2_Silent_p.L355L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	355	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TTCTGAGCTTGGGTCCGTTCA	0.473													A	63511131	G	A	63511131	2	1	268	1	0	0	0	0	0	0	0	1	3115	1339	47	4		4	CDH7	18	63511131	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	12458015	63511131	14566117	129	132625											
MEX3D	399664	broad.mit.edu	37	chr19	1556548	1556548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcggtccacgttctcggGcatcccagtgaccgcgaaca	12	16	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:1556548G>A	uc010dsn.2	-	2	970	c.970C>T	c.(970-972)CCC>TCC	p.P324S		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	324	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			lung(1)	1		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)		ACGTTCTCGGGCATCCCAGTG	0.697													A	1556548	G	A	1556548	3	1	268	1	0	0	0	0	1	0	0	0	9512	1203	42	2	1052	2	MEX3D	19	1556548	Missense_Mutation	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08		1556548	57572435	130	132626											
ICAM4	3386	broad.mit.edu	37	chr19	10398776	10398776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagctatgaagtcccaggCgtaaagggggatgttctatg	13	8	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:10398776C>T	uc002mns.1	+	3	851	c.812C>T	c.(811-813)GCG>GTG	p.A271V	ICAM4_uc002mnr.1_Silent_p.G245G|ICAM4_uc002mnt.1_3'UTR|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	271	Cytoplasmic (Potential).				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AAGTCCCAGGCGTAAAGGGGG	0.448													T	10398776	C	T	10398776	3	4	268	1	0	0	0	0	1	0	0	0	7482	768	27	1	839	1	ICAM4	19	10398776	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	8842228	10398776	48730207	131	132627											
DMKN	93099	broad.mit.edu	37	chr19	36002331	36002331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggaggactcactgccGctgtcacctctgctgccacc	9	18	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:36002331G>A	uc002nzm.3	-	5	1083	c.900C>T	c.(898-900)AGC>AGT	p.S300S	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_RNA|DMKN_uc002oac.3_Silent_p.S300S|DMKN_uc010eeb.2_Silent_p.S300S|DMKN_uc002oaa.3_Silent_p.S300S|DMKN_uc002oab.3_Silent_p.S300S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	300	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	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)			ACTCACTGCCGCTGTCACCTc	0.338													A	36002331	G	A	36002331	2	1	268	1	0	0	0	0	0	0	0	1	4582	1078	38	1		1	DMKN	19	36002331	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	25603555	36002331	23126652	132	132628											
CAPN12	147968	broad.mit.edu	37	chr19	39233065	39233065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacctggaagtggaagacGcctgcgtagccatgctggaa	14	9	0	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:39233065G>A	uc002ojd.1	-	3	720	c.411C>T	c.(409-411)GGC>GGT	p.G137G		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	137	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGTGGAAGACGCCTGCGTAGC	0.527													A	39233065	G	A	39233065	2	1	268	1	0	0	0	0	0	0	0	1	2625	1074	38	1		1	CAPN12	19	39233065	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	3230734	39233065	19895918	133	132629											
CLEC11A	6320	broad.mit.edu	37	chr19	51227348	51227348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacatcgtcacttacatcCgtgagtaaccagaagccctc	8	13	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:51227348C>T	uc002psy.2	+	2	512	c.334C>T	c.(334-336)CTG>TTG	p.L112L		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	112					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACTTACATCCGTGAGTAACC	0.498											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	51227348	C	T	51227348	2	4	268	1	0	0	0	0	0	0	0	1	3496	666	23	1		1	CLEC11A	19	51227348	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	11994283	51227348	7901635	134	132630											
PPP2R1A	5518	broad.mit.edu	37	chr19	52715979	52715979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgacacccccatggtgCggcgggccgcagcctccaag	13	16	0	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:52715979C>T	uc002pyp.2	+	5	703	c.544C>T	c.(544-546)CGG>TGG	p.R182W	PPP2R1A_uc010ydk.1_Missense_Mutation_p.R127W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R222W|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R3W	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	182	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens 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	p.R182W(5)		endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCCATGGTGCGGCGGGCCGC	0.547			Mis		clear cell ovarian carcinoma								T	52715979	C	T	52715979	3	4	268	1	0	0	0	0	1	0	0	0	12382	759	27	1	562	1	PPP2R1A	19	52715979	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	1488631	52715979	6413004	135	132631											
SBK2	646643	broad.mit.edu	37	chr19	56041169	56041169	+	Frame_Shift_Del	DEL	C	C	-													tcccgctgcctccaggggcgCcccaggtgctccctgatggc							TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:56041169delC	uc010ygc.1	-	3	978	c.978delG	c.(976-978)GGGfs	p.G326fs		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	326	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0						TCCAGGGGCGCCCCAGGTGCT	0.736													-	56041169	C	-	56041169	7	5	268	1	0	1	0	1	0	0	0	0	13861	726	26	0	71	0	SBK2	19	56041169	Frame_Shift_Del	DEL	C	TCGA-HU-A4GF-01A-11D-A24D-08	3325190	56041169	3087814	136	132632											
USP29	57663	broad.mit.edu	37	chr19	57641483	57641483	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcttttctttaaagaagaAgagcttgaatataactgtca	7	5	3	4	rs143087183	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr19:57641483A>C	uc002qny.2	+	4	1796	c.1440A>C	c.(1438-1440)GAA>GAC	p.E480D		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	480					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		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)		TTAAAGAAGAAGAGCTTGAAT	0.378													C	57641483	A	C	57641483	3	2	268	1	0	0	0	0	1	0	0	0	17056	69	3	5	1442	5	USP29	19	57641483	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	1600314	57641483	1487500	137	132633											
SGK2	10110	broad.mit.edu	37	chr20	42204996	42204996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaaggaccagaggcagCggctgggctccaaagcagac	13	13	0	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr20:42204996C>T	uc002xkv.2	+	10	1225	c.1006C>T	c.(1006-1008)CGG>TGG	p.R336W	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.R276W|SGK2_uc010ggm.2_Missense_Mutation_p.R276W|SGK2_uc002xks.2_Missense_Mutation_p.R275W|SGK2_uc002xku.2_Missense_Mutation_p.R276W	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	336	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			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAGAGGCAGCGGCTGGGCTC	0.602													T	42204996	C	T	42204996	3	4	268	1	0	0	0	0	1	0	0	0	14209	759	27	1	1044	1	SGK2	20	42204996	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08		42204996	20820524	138	132634											
TOX2	84969	broad.mit.edu	37	chr20	42574587	42574587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaggctgtcgcgggcgCgttctctcgctgcctgggct	15	14	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr20:42574587C>T	uc002xlf.3	+	1	52	c.35C>T	c.(34-36)GCG>GTG	p.A12V	TOX2_uc010ggo.2_Intron|TOX2_uc002xle.3_Intron|TOX2_uc010ggp.2_Intron	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GTCGCGGGCGCGTTCTCTCGC	0.522													T	42574587	C	T	42574587	3	4	268	1	0	0	0	0	1	0	0	0	16375	768	27	1	140	1	TOX2	20	42574587	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	369591	42574587	20450933	139	132635											
KCNB1	3745	broad.mit.edu	37	chr20	47991257	47991257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgctcttgttggattcGgtgaggaaaatggtgacata	13	6	1	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr20:47991257G>A	uc002xur.1	-	2	1004	c.840C>T	c.(838-840)ACC>ACT	p.T280T	KCNB1_uc002xus.1_Silent_p.T280T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	280	Helical; Name=Segment S3; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGTTGGATTCGGTGAGGAAAA	0.522													A	47991257	G	A	47991257	2	1	268	1	0	0	0	0	0	0	0	1	8012	1103	39	1		1	KCNB1	20	47991257	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	5416670	47991257	15034263	140	132636											
SETD4	54093	broad.mit.edu	37	chr21	37418071	37418071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaacagaggctgcagagAagagaaaaagtctctggagg	14	7	1	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr21:37418071A>G	uc002yuw.1	-	5	1908	c.535T>C	c.(535-537)TCT>CCT	p.S179P	SETD4_uc002yux.1_Missense_Mutation_p.S155P|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.S179P|SETD4_uc002yuy.2_Missense_Mutation_p.S179P|SETD4_uc002yuz.2_Missense_Mutation_p.S155P|SETD4_uc002yva.2_Missense_Mutation_p.S155P	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	179	SET.									large_intestine(1)|ovary(1)	2						GGCTGCAGAGAAGAGAAAAAG	0.527													G	37418071	A	G	37418071	3	3	268	1	0	0	0	0	1	0	0	0	14133	246	9	3	834	3	SETD4	21	37418071	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08		37418071	10711824	141	132637											
MED15	51586	broad.mit.edu	37	chr22	20939222	20939222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatgccgtcctggccaaCatccgctcacctgtcttcaa	8	16	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:20939222C>T	uc002zsp.2	+	15	1964	c.1884C>T	c.(1882-1884)AAC>AAT	p.N628N	MED15_uc002zsq.2_Silent_p.N588N|MED15_uc010gso.2_Silent_p.N571N|MED15_uc002zsr.2_Silent_p.N562N|MED15_uc011ahs.1_Silent_p.N562N|MED15_uc002zss.2_Silent_p.N507N|MED15_uc011ahu.1_Silent_p.N338N|MED15_uc002zst.2_Silent_p.N244N|MED15_uc002zsu.2_Silent_p.N233N	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	628					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			TCCTGGCCAACATCCGCTCAC	0.637													T	20939222	C	T	20939222	2	4	268	1	0	0	0	0	0	0	0	1	9433	477	17	4		4	MED15	22	20939222	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08		20939222	30365344	142	132638											
CCDC116	164592	broad.mit.edu	37	chr22	21991026	21991026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgctgcgtaaactggaGgagtccaaaagggcccggca	14	11	0	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:21991026G>A	uc002zve.2	+	5	1602	c.1509G>A	c.(1507-1509)GAG>GAA	p.E503E		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	503										ovary(1)|skin(1)	2	Colorectal(54;0.105)					GTAAACTGGAGGAGTCCAAAA	0.632													A	21991026	G	A	21991026	2	1	268	1	0	0	0	0	0	0	0	1	2753	991	35	4		4	CCDC116	22	21991026	Silent	SNP	G	TCGA-HU-A4GF-01A-11D-A24D-08	1051804	21991026	29313540	143	132639											
BCR	613	broad.mit.edu	37	chr22	23603674	23603674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatgatgggctcttccccCgcgtgcagcagtggagccac	12	14	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:23603674C>T	uc002zww.2	+	4	2295	c.1699C>T	c.(1699-1701)CGC>TGC	p.R567C	BCR_uc002zwx.2_Missense_Mutation_p.R567C|BCR_uc011aiy.1_Missense_Mutation_p.R156C|BCR_uc010gtx.1_Missense_Mutation_p.R70C|uc010gty.2_5'Flank	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	567	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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GCTCTTCCCCCGCGTGCAGCA	0.517			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								T	23603674	C	T	23603674	3	4	268	1	0	0	0	0	1	0	0	0	1388	652	23	1	1713	1	BCR	22	23603674	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	1612648	23603674	27700892	144	132640											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38494145	38494145	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcacttctccaggttggcCgctcggtggcggtactcgag	14	12	1	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chr22:38494145C>A	uc003auw.2	-	6	534	c.390G>T	c.(388-390)GCG>GCT	p.A130A		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	130	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					CCAGGTTGGCCGCTCGGTGGC	0.637													A	38494145	C	A	38494145	2	1	268	1	0	0	0	0	0	0	0	1	1303	639	23	5		5	BAIAP2L2	22	38494145	Silent	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	14890471	38494145	12810421	145	132641											
MXRA5	25878	broad.mit.edu	37	chrX	3239183	3239183	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgagatattcttggacTgggaagtgctggcttagtgg	15	5	1	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:3239183T>A	uc004crg.3	-	5	4700	c.4543A>T	c.(4543-4545)AGT>TGT	p.S1515C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1515						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTCTTGGACTGGGAAGTGCT	0.483													A	3239183	T	A	3239183	3	1	268	1	0	0	0	0	1	0	0	0	10003	1580	55	5	3955	5	MXRA5	23	3239183	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08		3239183	152031377	146	132642											
PCYT1B	9468	broad.mit.edu	37	chrX	24625971	24625971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgtatactctgacaggCctgtcagctgtgggagaaag	14	9	2	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:24625971C>A	uc004dbi.2	-	3	458	c.225G>T	c.(223-225)AGG>AGT	p.R75S	PCYT1B_uc004dbk.3_Missense_Mutation_p.R75S|PCYT1B_uc004dbj.2_Missense_Mutation_p.R57S	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	75	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	CTCTGACAGGCCTGTCAGCTG	0.443													A	24625971	C	A	24625971	3	1	268	1	0	0	0	0	1	0	0	0	11611	738	26	5	945	5	PCYT1B	23	24625971	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	21386788	24625971	130644589	147	132643											
MAGEB10	139422	broad.mit.edu	37	chrX	27840119	27840119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttaacacgatggggttAtatgacggaattgagcactt	12	5	0	2			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:27840119A>C	uc004dbw.2	+	3	923	c.696A>C	c.(694-696)TTA>TTC	p.L232F		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	232	MAGE.									lung(1)|breast(1)|central_nervous_system(1)	3						CGATGGGGTTATATGACGGAA	0.468													C	27840119	A	C	27840119	3	2	268	1	0	0	0	0	1	0	0	0	9173	446	16	5	698	5	MAGEB10	23	27840119	Missense_Mutation	SNP	A	TCGA-HU-A4GF-01A-11D-A24D-08	3214148	27840119	127430441	148	132644											
ZNF41	7592	broad.mit.edu	37	chrX	47306848	47306848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtcactggctttatagCgtttttctccactatgcatt	6	11	3	0			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:47306848C>T	uc004dhs.3	-	4	2514	c.2447G>A	c.(2446-2448)CGC>CAC	p.R816H	ZNF41_uc004dhu.3_Missense_Mutation_p.R808H|ZNF41_uc004dht.3_Missense_Mutation_p.R688H|ZNF41_uc004dhv.3_Missense_Mutation_p.R784H|ZNF41_uc004dhw.3_Missense_Mutation_p.R776H|ZNF41_uc004dhy.3_Missense_Mutation_p.R774H|ZNF41_uc004dhx.3_Missense_Mutation_p.R774H|ZNF41_uc011mlm.1_Missense_Mutation_p.R688H	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	816						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				GGCTTTATAGCGTTTTTCTCC	0.428													T	47306848	C	T	47306848	3	4	268	1	0	0	0	0	1	0	0	0	17886	768	27	1	22	1	ZNF41	23	47306848	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	19466729	47306848	107963712	149	132645											
ACRC	93953	broad.mit.edu	37	chrX	70823751	70823751	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgattcatccgacgacaaCagtgatgattcggatgttcc	10	9	1	3			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:70823751C>G	uc004eae.2	+	8	1125	c.624C>G	c.(622-624)AAC>AAG	p.N208K	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	208	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					CCGACGACAACAGTGATGATT	0.493													G	70823751	C	G	70823751	3	3	268	1	0	0	0	0	1	0	0	0	171	477	17	5	650	5	ACRC	23	70823751	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	23516903	70823751	84446809	150	132646											
SMARCA1	6594	broad.mit.edu	37	chrX	128599895	128599895	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgttcaatttgagccataaTtttctcaatgtcctgtaatt	5	8	2	1			TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:128599895T>G	uc004eun.3	-	22	2856	c.2743A>C	c.(2743-2745)ATT>CTT	p.I915L	SMARCA1_uc004eup.3_Missense_Mutation_p.I903L|SMARCA1_uc011muk.1_Missense_Mutation_p.I915L|SMARCA1_uc011mul.1_Missense_Mutation_p.I903L	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	915					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			ovary(3)|skin(1)	4						TGAGCCATAATTTTCTCAATG	0.333													G	128599895	T	G	128599895	3	3	268	1	0	0	0	0	1	0	0	0	14768	1493	52	5	433	5	SMARCA1	23	128599895	Missense_Mutation	SNP	T	TCGA-HU-A4GF-01A-11D-A24D-08	57776144	128599895	26670665	151	132647											
SAGE1	55511	broad.mit.edu	37	chrX	134983830	134983830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaaggaagagtatgtcctCgtggttagacaaacaggaag	14	5	0	3	rs143643223	byFrequency	TCGA-HU-A4GF-01A-11D-A24D-08	TCGA-HU-A4GF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9641542-98dd-4827-b747-e66bdb1e4213	94ba2829-6f3a-49b5-99c0-c25b4d40b39a	g.chrX:134983830C>T	uc004ezh.2	+	3	367	c.200C>T	c.(199-201)TCG>TTG	p.S67L	SAGE1_uc010nry.1_Missense_Mutation_p.S67L|SAGE1_uc011mvv.1_Missense_Mutation_p.S67L	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	67										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					AGTATGTCCTCGTGGTTAGAC	0.428													T	134983830	C	T	134983830	3	4	268	1	0	0	0	0	1	0	0	0	13809	893	31	1	206	1	SAGE1	23	134983830	Missense_Mutation	SNP	C	TCGA-HU-A4GF-01A-11D-A24D-08	6383935	134983830	20286730	152	132648											
PLCH2	9651	broad.mit.edu	37	chr1	2428315	2428315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagaccaaggcccaccAgattctgcagcagaagccgg	12	14	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:2428315A>G	uc001aji.1	+	15	2256	c.1982A>G	c.(1981-1983)CAG>CGG	p.Q661R	PLCH2_uc010nyz.1_Missense_Mutation_p.Q449R|PLCH2_uc009vle.1_Missense_Mutation_p.Q449R|PLCH2_uc001ajj.1_Missense_Mutation_p.Q449R|PLCH2_uc001ajk.1_Missense_Mutation_p.Q449R|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	661	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(3)|ovary(1)|skin(1)	5	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)		AAGGCCCACCAGATTCTGCAG	0.647													G	2428315	A	G	2428315	3	3	269	1	0	0	0	0	1	0	0	0	12038	188	7	3	2040	3	PLCH2	1	2428315	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08		2428315	246822306	1	132649											
CAMTA1	23261	broad.mit.edu	37	chr1	7796536	7796536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagactttccgcggaatgAccctactccacctggccgct	8	16	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:7796536A>C	uc001aoi.2	+	13	3406	c.3199A>C	c.(3199-3201)ACC>CCC	p.T1067P	CAMTA1_uc010nzv.1_Missense_Mutation_p.T154P|CAMTA1_uc001aok.3_Missense_Mutation_p.T110P|CAMTA1_uc001aoj.2_Missense_Mutation_p.T23P	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1067	ANK 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		CCGCGGAATGACCCTACTCCA	0.592													C	7796536	A	C	7796536	3	2	269	1	0	0	0	0	1	0	0	0	2613	275	10	5	3249	5	CAMTA1	1	7796536	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5368221	7796536	241454085	2	132650											
VPS13D	55187	broad.mit.edu	37	chr1	12336689	12336689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcagacatatggtgctgAttttgaccttttgatggctt	10	7	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:12336689A>C	uc001atv.2	+	19	3185	c.3044A>C	c.(3043-3045)GAT>GCT	p.D1015A	VPS13D_uc001atw.2_Missense_Mutation_p.D1015A|VPS13D_uc001atx.2_Missense_Mutation_p.D203A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1015					protein localization					ovary(4)|pancreas(1)	5	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)		TATGGTGCTGATTTTGACCTT	0.478											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	12336689	A	C	12336689	3	2	269	1	0	0	0	0	1	0	0	0	17189	333	12	5	3114	5	VPS13D	1	12336689	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4540153	12336689	236913932	3	132651											
PRDM2	7799	broad.mit.edu	37	chr1	14106040	14106040	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataacaacactagtaactgtGatgtgattgagatggagtct	10	5	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:14106040G>C	uc001avi.2	+	8	2606	c.1750G>C	c.(1750-1752)GAT>CAT	p.D584H	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.D584H|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.D341H|PRDM2_uc001avk.2_Missense_Mutation_p.D383H|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	584						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		TAGTAACTGTGATGTGATTGA	0.333													C	14106040	G	C	14106040	3	2	269	1	0	0	0	0	1	0	0	0	12458	1290	45	5	1776	5	PRDM2	1	14106040	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1769351	14106040	235144581	4	132652											
SPEN	23013	broad.mit.edu	37	chr1	16235934	16235934	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagatgagccccgtaaaAgttttggcatcaaggtccag	10	8	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16235934A>C	uc001axk.1	+	4	1204	c.1000A>C	c.(1000-1002)AGT>CGT	p.S334R	SPEN_uc010obp.1_Missense_Mutation_p.S293R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	334	By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GCCCCGTAAAAGTTTTGGCAT	0.453													C	16235934	A	C	16235934	3	2	269	1	0	0	0	0	1	0	0	0	15037	72	3	5	1014	5	SPEN	1	16235934	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2129894	16235934	233014687	5	132653											
SPEN	23013	broad.mit.edu	37	chr1	16255028	16255028	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcagaccggagtggaAgctgtagctcactctcccct	10	14	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16255028A>T	uc001axk.1	+	11	2497	c.2293A>T	c.(2293-2295)AGC>TGC	p.S765C	SPEN_uc010obp.1_Missense_Mutation_p.S724C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	765	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		CCGGAGTGGAAGCTGTAGCTC	0.502													T	16255028	A	T	16255028	3	4	269	1	0	0	0	0	1	0	0	0	15037	72	3	5	2335	5	SPEN	1	16255028	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	19094	16255028	232995593	6	132654											
SPEN	23013	broad.mit.edu	37	chr1	16256649	16256649	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taacataacagtcagggaagAgtctttaaaatttaatcctt	6	6	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16256649A>T	uc001axk.1	+	11	4118	c.3914A>T	c.(3913-3915)GAG>GTG	p.E1305V	SPEN_uc010obp.1_Missense_Mutation_p.E1264V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1305					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GTCAGGGAAGAGTCTTTAAAA	0.388													T	16256649	A	T	16256649	3	4	269	1	0	0	0	0	1	0	0	0	15037	304	11	5	3956	5	SPEN	1	16256649	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1621	16256649	232993972	7	132655											
EPHA2	1969	broad.mit.edu	37	chr1	16458611	16458611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacgcgggacaggccaAagtcagacaccttgcagacc	11	15	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16458611A>C	uc001aya.1	-	13	2410	c.2273T>G	c.(2272-2274)TTT>TGT	p.F758C		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	758	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	GGACAGGCCAAAGTCAGACAC	0.607													C	16458611	A	C	16458611	3	2	269	1	0	0	0	0	1	0	0	0	5167	14	1	5	677	5	EPHA2	1	16458611	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	201962	16458611	232792010	8	132656											
EPHA2	1969	broad.mit.edu	37	chr1	16464926	16464926	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatccaggcgagcaggCtggtggacacaggacagaca	13	9	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:16464926C>T	uc001aya.1	-	4	961	c.824_splice	c.e4-1	p.A275_splice	EPHA2_uc010oca.1_Splice_Site_p.A275_splice	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor						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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	GGCGAGCAGGCTGGTGGACAC	0.582													T	16464926	C	T	16464926	5	4	269	1	0	0	0	0	0	0	1	0	5167	811	28	2	2163	2	EPHA2	1	16464926	Splice_Site	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	6315	16464926	232785695	9	132657											
ATP13A2	23400	broad.mit.edu	37	chr1	17316763	17316763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccccgggccacagtcacCgctgtctgcaggttgtcccc	11	18	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:17316763C>T	uc001baa.2	-	21	2461	c.2271G>A	c.(2269-2271)GCG>GCA	p.A757A	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Silent_p.A752A|ATP13A2_uc001bac.2_Silent_p.A752A	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	757	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		CCACAGTCACCGCTGTCTGCA	0.597													T	17316763	C	T	17316763	2	4	269	1	0	0	0	0	0	0	0	1	1124	639	23	1		1	ATP13A2	1	17316763	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	851837	17316763	231933858	10	132658											
TAS1R2	80834	broad.mit.edu	37	chr1	19166828	19166828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccccagccgagcgaacTatgggtgtctggaagtgcct	15	12	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:19166828T>C	uc001bba.1	-	6	1786	c.1785A>G	c.(1783-1785)ATA>ATG	p.I595M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	595	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	CCGAGCGAACTATGGGTGTCT	0.637													C	19166828	T	C	19166828	3	2	269	1	0	0	0	0	1	0	0	0	15560	1512	53	3	738	3	TAS1R2	1	19166828	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1850065	19166828	230083793	11	132659											
MRTO4	51154	broad.mit.edu	37	chr1	19585179	19585179	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtctcttgcagaagcTttttgggtatgagatggctg	12	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:19585179T>G	uc001bbs.2	+	8	830	c.575T>G	c.(574-576)CTT>CGT	p.L192R		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	192					ribosome biogenesis	nuclear membrane|nucleolus					0		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)		TTGCAGAAGCTTTTTGGGTAT	0.498													G	19585179	T	G	19585179	3	3	269	1	0	0	0	0	1	0	0	0	9852	1609	56	5	605	5	MRTO4	1	19585179	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	418351	19585179	229665442	12	132660											
EIF4G3	8672	broad.mit.edu	37	chr1	21137275	21137275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgcttgtagtgcataaAgtgcttgcagttccttctct	9	9	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:21137275A>C	uc001bec.2	-	31	4788	c.4532T>G	c.(4531-4533)CTT>CGT	p.L1511R	EIF4G3_uc010odi.1_Missense_Mutation_p.L1115R|EIF4G3_uc010odj.1_Missense_Mutation_p.L1510R|EIF4G3_uc009vpz.2_Missense_Mutation_p.L1231R|EIF4G3_uc001bed.2_Missense_Mutation_p.L1511R|EIF4G3_uc001bef.2_Missense_Mutation_p.L1547R|EIF4G3_uc001bee.2_Missense_Mutation_p.L1517R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1511	EIF4A-binding (By similarity).|W2.				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			skin(1)	1		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)		TAGTGCATAAAGTGCTTGCAG	0.413													C	21137275	A	C	21137275	3	2	269	1	0	0	0	0	1	0	0	0	5038	72	3	5	233	5	EIF4G3	1	21137275	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1552096	21137275	228113346	13	132661											
HSPG2	3339	broad.mit.edu	37	chr1	22181917	22181917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctctctgggctcacTtggactctgggcccaccgcc	12	16	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:22181917T>C	uc001bfj.2	-	47	5917	c.5877A>G	c.(5875-5877)CAA>CAG	p.Q1959Q	HSPG2_uc009vqd.2_Silent_p.Q1960Q	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1959	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CTGGGCTCACTTGGACTCTGG	0.682													C	22181917	T	C	22181917	2	2	269	1	0	0	0	0	0	0	0	1	7430	1606	56	3		3	HSPG2	1	22181917	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1044642	22181917	227068704	14	132662											
ZBTB40	9923	broad.mit.edu	37	chr1	22816605	22816605	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaaaccctgctggataAcacagataccatctccatcg	6	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:22816605A>C	uc001bft.2	+	3	675	c.164A>C	c.(163-165)AAC>ACC	p.N55T	ZBTB40_uc001bfu.2_Missense_Mutation_p.N55T|ZBTB40_uc009vqi.1_Missense_Mutation_p.N55T	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	55	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CTGCTGGATAACACAGATACC	0.517													C	22816605	A	C	22816605	3	2	269	1	0	0	0	0	1	0	0	0	17539	43	2	5	166	5	ZBTB40	1	22816605	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	634688	22816605	226434016	15	132663											
TCEB3	6924	broad.mit.edu	37	chr1	24083479	24083479	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccccatgggaagcagccaTgcttccgccagtagcatcag	10	14	1	0	rs140332205	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:24083479T>C	uc001bho.2	+	10	2259	c.2199T>C	c.(2197-2199)CAT>CAC	p.H733H		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	733					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			ovary(1)	1		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)		GAAGCAGCCATGCTTCCGCCA	0.587													C	24083479	T	C	24083479	2	2	269	1	0	0	0	0	0	0	0	1	15678	1461	51	3		3	TCEB3	1	24083479	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1266874	24083479	225167142	16	132664											
SRRM1	10250	broad.mit.edu	37	chr1	24975417	24975417	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaaaatgctcgagaatTtatgggagaactgtggcccc	12	7	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:24975417T>G	uc001bjm.2	+	4	526	c.302T>G	c.(301-303)TTT>TGT	p.F101C	SRRM1_uc010oel.1_Missense_Mutation_p.F101C|SRRM1_uc009vrh.1_Missense_Mutation_p.F62C|SRRM1_uc009vri.1_Missense_Mutation_p.F18C|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	101	PWI.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|Necessary for DNA and RNA-binding.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		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)		GCTCGAGAATTTATGGGAGAA	0.408													G	24975417	T	G	24975417	3	3	269	1	0	0	0	0	1	0	0	0	15167	1841	64	5	316	5	SRRM1	1	24975417	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	891938	24975417	224275204	17	132665											
EXTL1	2134	broad.mit.edu	37	chr1	26349405	26349405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcttgctttgatacctcaAagtgcaggggcgatggcctt	11	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:26349405A>G	uc001blf.2	+	1	1135	c.268A>G	c.(268-270)AAG>GAG	p.K90E		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	90	Lumenal (Potential).				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)	1		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)		TGATACCTCAAAGTGCAGGGG	0.557													G	26349405	A	G	26349405	3	3	269	1	0	0	0	0	1	0	0	0	5325	15	1	3	270	3	EXTL1	1	26349405	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1373988	26349405	222901216	18	132666											
ARID1A	8289	broad.mit.edu	37	chr1	27106463	27106463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagcacccagaacggaAgcaggcaccactaacttatg	8	14	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:27106463A>C	uc001bmv.1	+	20	6447	c.6074A>C	c.(6073-6075)AAG>ACG	p.K2025T	ARID1A_uc001bmu.1_Missense_Mutation_p.K1808T|ARID1A_uc001bmx.1_Missense_Mutation_p.K871T|ARID1A_uc009vsm.1_Missense_Mutation_p.K353T|ARID1A_uc009vsn.1_Missense_Mutation_p.K267T	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2025					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CCAGAACGGAAGCAGGCACCA	0.547			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								C	27106463	A	C	27106463	3	2	269	1	0	0	0	0	1	0	0	0	913	72	3	5	6152	5	ARID1A	1	27106463	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	757058	27106463	222144158	19	132667											
PPP1R8	5511	broad.mit.edu	37	chr1	28176805	28176805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaccttgcccctgatgtgGacttgactcctgttgtgccg	10	13	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:28176805G>A	uc001bov.1	+	7	958	c.904G>A	c.(904-906)GAC>AAC	p.D302N	PPP1R8_uc001bow.1_Missense_Mutation_p.D160N|PPP1R8_uc001box.1_Missense_Mutation_p.D78N|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	302					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|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;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGATGTGGACTTGACTCC	0.532													A	28176805	G	A	28176805	3	1	269	1	0	0	0	0	1	0	0	0	12377	1174	41	4	930	4	PPP1R8	1	28176805	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1070342	28176805	221073816	20	132668											
PHACTR4	65979	broad.mit.edu	37	chr1	28818272	28818272	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccggcgagccgacaaaccTtggaccaaactgacccctgc	10	16	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:28818272T>G	uc001bpw.2	+	12	2271	c.1989T>G	c.(1987-1989)CCT>CCG	p.P663P	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Silent_p.P647P|PHACTR4_uc001bpy.2_Silent_p.P673P|PHACTR4_uc001bpz.2_RNA	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	663							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCGACAAACCTTGGACCAAAC	0.388													G	28818272	T	G	28818272	2	3	269	1	0	0	0	0	0	0	0	1	11812	1596	56	5		5	PHACTR4	1	28818272	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	641467	28818272	220432349	21	132669											
YTHDF2	51441	broad.mit.edu	37	chr1	29069077	29069077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaacggagagccccacTtcctaccagatgcaatgttt	9	12	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:29069077T>G	uc001brc.2	+	4	792	c.295T>G	c.(295-297)TTC>GTC	p.F99V	YTHDF2_uc001brd.2_Missense_Mutation_p.F96V|YTHDF2_uc010ofx.1_Missense_Mutation_p.F49V|YTHDF2_uc001bre.2_Missense_Mutation_p.F49V	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	99					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-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)		AGAGCCCCACTTCCTACCAGA	0.502													G	29069077	T	G	29069077	3	3	269	1	0	0	0	0	1	0	0	0	17496	1609	56	5	309	5	YTHDF2	1	29069077	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	250805	29069077	220181544	22	132670											
CSMD2	114784	broad.mit.edu	37	chr1	34035042	34035042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaccctggagcccaccAgtgtgtatccggaattgcag	11	14	0	0	rs147330232		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:34035042A>G	uc001bxn.1	-	53	8098	c.8069T>C	c.(8068-8070)CTG>CCG	p.L2690P	CSMD2_uc001bxm.1_Missense_Mutation_p.L2688P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2690	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGCCCACCAGTGTGTATCC	0.602													G	34035042	A	G	34035042	3	3	269	1	0	0	0	0	1	0	0	0	3945	188	7	3	2462	3	CSMD2	1	34035042	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4965965	34035042	215215579	23	132671											
CSMD2	114784	broad.mit.edu	37	chr1	34046405	34046405	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcgtgatcagatgaccaAcgcaggtacacagagttgct	12	9	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:34046405A>C	uc001bxn.1	-	49	7370	c.7341T>G	c.(7339-7341)CGT>CGG	p.R2447R	CSMD2_uc001bxm.1_Silent_p.R2445R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2447	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATGACCAACGCAGGTACA	0.517													C	34046405	A	C	34046405	2	2	269	1	0	0	0	0	0	0	0	1	3945	30	2	5		5	CSMD2	1	34046405	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	11363	34046405	215204216	24	132672											
GRIK3	2899	broad.mit.edu	37	chr1	37282714	37282714	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccccatactcgattttggTttgcttggccaggtcatcag	10	11	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:37282714T>A	uc001caz.2	-	13	2173	c.2038A>T	c.(2038-2040)ACC>TCC	p.T680S	GRIK3_uc001cba.1_Missense_Mutation_p.T680S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	680	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCGATTTTGGTTTGCTTGGCC	0.557													A	37282714	T	A	37282714	3	1	269	1	0	0	0	0	1	0	0	0	6775	1725	60	5	737	5	GRIK3	1	37282714	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3236309	37282714	211967907	25	132673											
ZNF642	339559	broad.mit.edu	37	chr1	40947493	40947493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagtttagaggatgaAgtgacccctggactcccgac	12	9	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:40947493A>G	uc001cfo.2	+	3	480	c.186A>G	c.(184-186)GAA>GAG	p.E62E	ZNF642_uc009vwb.2_Silent_p.E62E|ZNF642_uc010ojk.1_Silent_p.E62E	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;8.81e-19)			TAGAGGATGAAGTGACCCCTG	0.473													G	40947493	A	G	40947493	2	3	269	1	0	0	0	0	0	0	0	1	18055	69	3	3		3	ZNF642	1	40947493	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3664779	40947493	208303128	26	132674											
KIAA0467	23334	broad.mit.edu	37	chr1	43880837	43880837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcagctctgcctctttgagGataaggtggccaccatgctg	12	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:43880837G>T	uc009vws.1	+	5	667	c.583G>T	c.(583-585)GAT>TAT	p.D195Y				Q5T011	SZT2_HUMAN	Homo sapiens mRNA for KIAA0467 protein, partial cds.	195						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCTTTGAGGATAAGGTGGC	0.552											OREG0013431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43880837	G	T	43880837	3	4	269	1	0	0	0	0	1	0	0	0	8178	1189	41	5		5	KIAA0467	1	43880837	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2933344	43880837	205369784	27	132675											
KIF2C	11004	broad.mit.edu	37	chr1	45232771	45232771	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctaccctttcttccagatGtcatcaaggccttgcgcctg	8	15	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:45232771G>C	uc001cmg.3	+	21	2213	c.2098G>C	c.(2098-2100)GTC>CTC	p.V700L	KIF2C_uc010olb.1_Missense_Mutation_p.V659L|KIF2C_uc010olc.1_Missense_Mutation_p.V587L|KIF2C_uc001cmh.3_Missense_Mutation_p.V646L	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	700					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCTTCCAGATGTCATCAAGGC	0.542													C	45232771	G	C	45232771	3	2	269	1	0	0	0	0	1	0	0	0	8299	1377	48	5	2180	5	KIF2C	1	45232771	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1351934	45232771	204017850	28	132676											
LRRC41	10489	broad.mit.edu	37	chr1	46751978	46751978	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtctccagaaccctgcggTtgggctcagccaccagctcg	13	15	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:46751978T>A	uc001cpn.2	-	4	595	c.551A>T	c.(550-552)AAC>ATC	p.N184I	LRRC41_uc010omb.1_Missense_Mutation_p.N184I|LRRC41_uc001cpo.1_Missense_Mutation_p.N184I	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	184										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					AACCCTGCGGTTGGGCTCAGC	0.607													A	46751978	T	A	46751978	3	1	269	1	0	0	0	0	1	0	0	0	8999	1725	60	5	1915	5	LRRC41	1	46751978	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1519207	46751978	202498643	29	132677											
NRD1	4898	broad.mit.edu	37	chr1	52277666	52277666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgtataaacctccttacTtctggcttgtattcaaaaag	6	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:52277666T>G	uc001ctc.3	-	17	2305	c.1983A>C	c.(1981-1983)GAA>GAC	p.E661D	NRD1_uc009vzb.2_Missense_Mutation_p.E356D|NRD1_uc001ctd.3_Missense_Mutation_p.E593D|NRD1_uc001cte.2_Missense_Mutation_p.E529D|NRD1_uc001ctf.2_Missense_Mutation_p.E593D|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	592					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				0						ACCTCCTTACTTCTGGCTTGT	0.403													G	52277666	T	G	52277666	3	3	269	1	0	0	0	0	1	0	0	0	10645	1623	56	5	1744	5	NRD1	1	52277666	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5525688	52277666	196972955	30	132678											
ROR1	4919	broad.mit.edu	37	chr1	64608148	64608148	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccgtcagtgtgaccaaatCagggcgccagtgccagccat	12	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:64608148C>T	uc001dbj.2	+	7	1388	c.989C>T	c.(988-990)TCA>TTA	p.S330L	ROR1_uc001dbi.3_Missense_Mutation_p.S330L|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	330	Kringle.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						GTGACCAAATCAGGGCGCCAG	0.507													T	64608148	C	T	64608148	3	4	269	1	0	0	0	0	1	0	0	0	13526	838	29	4	1015	4	ROR1	1	64608148	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	12330482	64608148	184642473	31	132679											
JAK1	3716	broad.mit.edu	37	chr1	65313281	65313281	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcttcttctcttcagaAgttccttcgtcatccttgta	4	11	5	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:65313281A>C	uc001dbu.1	-	13	2082	c.1833T>G	c.(1831-1833)ACT>ACG	p.T611T	JAK1_uc009wam.1_Silent_p.T599T|JAK1_uc009wal.1_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	611	Protein kinase 1.				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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTCTTCAGAAGTTCCTTCGT	0.512			Mis		ALL								C	65313281	A	C	65313281	2	2	269	1	0	0	0	0	0	0	0	1	7937	59	3	5		5	JAK1	1	65313281	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	705133	65313281	183937340	32	132680											
SGIP1	84251	broad.mit.edu	37	chr1	67147606	67147606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactaccatccatcaatgActtggacagcatttttgggc	7	10	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:67147606A>C	uc001dcr.2	+	15	1086	c.869A>C	c.(868-870)GAC>GCC	p.D290A	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.D57A	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	290	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			ovary(3)	3						TCCATCAATGACTTGGACAGC	0.383													C	67147606	A	C	67147606	3	2	269	1	0	0	0	0	1	0	0	0	14206	275	10	5	927	5	SGIP1	1	67147606	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1834325	67147606	182103015	33	132681											
SFRS11	9295	broad.mit.edu	37	chr1	70700393	70700393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacagattggcgctgttccActggctgctttgggggctcc	13	12	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:70700393A>G	uc001des.2	+	5	586	c.462A>G	c.(460-462)CCA>CCG	p.P154P	SFRS11_uc001det.2_Silent_p.P154P|SFRS11_uc001deu.2_Silent_p.P154P|SFRS11_uc001dev.2_5'UTR|SFRS11_uc001dew.2_Silent_p.P94P	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	154					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GCGCTGTTCCACTGGCTGCTT	0.353													G	70700393	A	G	70700393	2	3	269	1	0	0	0	0	0	0	0	1	14166	146	6	3		3	SFRS11	1	70700393	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3552787	70700393	178550228	34	132682											
SLC44A5	204962	broad.mit.edu	37	chr1	75672319	75672319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttctggggaactagTtgcttcttgatcagaattcc	9	9	4	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:75672319T>C	uc001dgu.2	-	24	2277	c.2133A>G	c.(2131-2133)CAA>CAG	p.Q711Q	SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Silent_p.Q705Q|SLC44A5_uc010orb.1_Silent_p.Q581Q	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	711	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						GGGGAACTAGTTGCTTCTTGA	0.383													C	75672319	T	C	75672319	2	2	269	1	0	0	0	0	0	0	0	1	14639	1722	60	3		3	SLC44A5	1	75672319	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4971926	75672319	173578302	35	132683											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510166	77510166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctacatgcggcgggAcggcaagggccaggtctaca	15	12	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:77510166A>G	uc001dhi.2	+	3	714	c.539A>G	c.(538-540)GAC>GGC	p.D180G	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	180	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						ATGCGGCGGGACGGCAAGGGC	0.602													G	77510166	A	G	77510166	3	3	269	1	0	0	0	0	1	0	0	0	15226	275	10	3	549	3	ST6GALNAC5	1	77510166	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1837847	77510166	171740455	36	132684											
LPAR3	23566	broad.mit.edu	37	chr1	85331459	85331459	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accagcaagttggtgagggaAgcagtcaagctactgtccag	13	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:85331459A>C	uc001dkl.2	-	1	384	c.345T>G	c.(343-345)GCT>GCG	p.A115A	LPAR3_uc009wcj.1_Silent_p.A115A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	115	Helical; Name=3; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						TGGTGAGGGAAGCAGTCAAGC	0.502													C	85331459	A	C	85331459	2	2	269	1	0	0	0	0	0	0	0	1	8906	59	3	5		5	LPAR3	1	85331459	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7821293	85331459	163919162	37	132685											
COL24A1	255631	broad.mit.edu	37	chr1	86203164	86203164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcatctgaaggacagccaAgatttgggtcaatccagtat	11	8	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:86203164A>T	uc001dlj.2	-	58	4739	c.4697T>A	c.(4696-4698)CTT>CAT	p.L1566H	COL24A1_uc001dli.2_Missense_Mutation_p.L681H|COL24A1_uc010osd.1_Missense_Mutation_p.L866H|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1566	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGACAGCCAAGATTTGGGTC	0.313													T	86203164	A	T	86203164	3	4	269	1	0	0	0	0	1	0	0	0	3683	72	3	5	459	5	COL24A1	1	86203164	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	871705	86203164	163047457	38	132686											
GBP5	115362	broad.mit.edu	37	chr1	89729464	89729464	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtactttgccttcagttcTtctgttttctgaatgaagag	8	7	4	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:89729464T>G	uc001dnc.2	-	9	1854	c.1317A>C	c.(1315-1317)GAA>GAC	p.E439D	GBP5_uc001dnd.2_Missense_Mutation_p.E439D|GBP5_uc001dne.1_Missense_Mutation_p.E439D	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	439						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCTTCAGTTCTTCTGTTTTCT	0.428													G	89729464	T	G	89729464	3	3	269	1	0	0	0	0	1	0	0	0	6277	1606	56	5	459	5	GBP5	1	89729464	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3526300	89729464	159521157	39	132687											
HFM1	164045	broad.mit.edu	37	chr1	91784878	91784878	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgggagccatgtctgaaAatctttgcggtatcttgtgt	11	7	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:91784878A>C	uc001doa.3	-	24	2752	c.2652T>G	c.(2650-2652)ATT>ATG	p.I884M	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.I563M|HFM1_uc001dob.3_Missense_Mutation_p.I116M|HFM1_uc010osv.1_Missense_Mutation_p.I568M	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	884	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		CATGTCTGAAAATCTTTGCGG	0.343													C	91784878	A	C	91784878	3	2	269	1	0	0	0	0	1	0	0	0	7083	10	1	5	1719	5	HFM1	1	91784878	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2055414	91784878	157465743	40	132688											
C1orf146	388649	broad.mit.edu	37	chr1	92707767	92707767	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgatattttttaaaaaAgagttatgaagttgcaactg	7	3	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:92707767A>C	uc001doq.2	+	3	139	c.67_splice	c.e3-2	p.S23_splice	C1orf146_uc010ote.1_Intron	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	hypothetical protein LOC388649											ovary(1)	1		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTTAAAAAAGAGTTATGAA	0.274													C	92707767	A	C	92707767	5	2	269	1	0	0	0	0	0	0	1	0	2003	86	3	5	71	5	C1orf146	1	92707767	Splice_Site	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	922889	92707767	156542854	41	132689											
EVI5	7813	broad.mit.edu	37	chr1	93091424	93091424	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatggcttctgcttctctaAgtttcacagcaatgagttct	7	9	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:93091424A>C	uc001dox.2	-	13	1557	c.1547T>G	c.(1546-1548)CTT>CGT	p.L516R	EVI5_uc010otf.1_Missense_Mutation_p.L527R|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	516	Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		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)		TGCTTCTCTAAGTTTCACAGC	0.348													C	93091424	A	C	93091424	3	2	269	1	0	0	0	0	1	0	0	0	5289	72	3	5	909	5	EVI5	1	93091424	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	383657	93091424	156159197	42	132690											
ABCA4	24	broad.mit.edu	37	chr1	94487448	94487448	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcttaaaaacccaacaAgtgcttcccccgtgatgggg	11	12	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:94487448A>C	uc001dqh.2	-	33	4831	c.4727T>G	c.(4726-4728)CTT>CGT	p.L1576R		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1576	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		AAACCCAACAAGTGCTTCCCC	0.488													C	94487448	A	C	94487448	3	2	269	1	0	0	0	0	1	0	0	0	34	72	3	5	2166	5	ABCA4	1	94487448	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1396024	94487448	154763173	43	132691											
DPYD	1806	broad.mit.edu	37	chr1	97564097	97564097	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacagtttctcttaagtggtGaaaaagctacattttgttct	7	6	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:97564097G>A	uc001drv.2	-	21	2851	c.2714C>T	c.(2713-2715)TCA>TTA	p.S905L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	905					'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			ovary(3)|skin(3)|breast(2)	8		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)	CTTAAGTGGTGAAAAAGCTAC	0.348													A	97564097	G	A	97564097	3	1	269	1	0	0	0	0	1	0	0	0	4745	1294	45	4	375	4	DPYD	1	97564097	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	3076649	97564097	151686524	44	132692											
PALMD	54873	broad.mit.edu	37	chr1	100154541	100154541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagttgaagtagaggaacTtctaagacaagcctcagaga	10	8	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:100154541T>G	uc001dsg.2	+	7	1168	c.725T>G	c.(724-726)CTT>CGT	p.L242R	PALMD_uc001dsf.2_Missense_Mutation_p.L242R	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	242					regulation of cell shape	cytoplasm|membrane				ovary(2)|pancreas(1)	3		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTAGAGGAACTTCTAAGACAA	0.453													G	100154541	T	G	100154541	3	3	269	1	0	0	0	0	1	0	0	0	11411	1609	56	5	751	5	PALMD	1	100154541	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2590444	100154541	149096080	45	132693											
NTNG1	22854	broad.mit.edu	37	chr1	107973474	107973474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactagagggcagcactgtgAgttatgcaggctgggctact	14	9	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:107973474A>C	uc001dvh.3	+	6	1908	c.1190A>C	c.(1189-1191)GAG>GCG	p.E397A	NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	397	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CAGCACTGTGAGTTATGCAGG	0.448													C	107973474	A	C	107973474	3	2	269	1	0	0	0	0	1	0	0	0	10704	304	11	5	1342	5	NTNG1	1	107973474	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7818933	107973474	141277147	46	132694											
AKNAD1	254268	broad.mit.edu	37	chr1	109380261	109380261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgaagtatatttgcTttcatccattttctctttaa	6	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:109380261T>G	uc001dwa.2	-	7	1716	c.1447A>C	c.(1447-1449)AGC>CGC	p.S483R	AKNAD1_uc010ovb.1_Missense_Mutation_p.S190R|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	483	Potential.									ovary(3)	3						GTATATTTGCTTTCATCCATT	0.413													G	109380261	T	G	109380261	3	3	269	1	0	0	0	0	1	0	0	0	464	1609	56	5	1103	5	AKNAD1	1	109380261	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1406787	109380261	139870360	47	132695											
CELSR2	1952	broad.mit.edu	37	chr1	109794583	109794583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcagctgtgggcaccAgcgtggtgacggtgtcagct	17	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:109794583A>G	uc001dxa.3	+	1	1943	c.1882A>G	c.(1882-1884)AGC>GGC	p.S628G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	628	Cadherin 5.|Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		TGTGGGCACCAGCGTGGTGAC	0.542													G	109794583	A	G	109794583	3	3	269	1	0	0	0	0	1	0	0	0	3222	188	7	3	1884	3	CELSR2	1	109794583	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	414322	109794583	139456038	48	132696											
AHCYL1	10768	broad.mit.edu	37	chr1	110557426	110557426	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagtcagaagatgacTtctggtggtgtattgaccgc	15	7	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:110557426T>G	uc001dyx.2	+	6	989	c.622T>G	c.(622-624)TTC>GTC	p.F208V	AHCYL1_uc010ovw.1_Missense_Mutation_p.F161V|AHCYL1_uc001dyy.2_Missense_Mutation_p.F161V|AHCYL1_uc010ovx.1_Missense_Mutation_p.F161V	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	208					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AGAAGATGACTTCTGGTGGTG	0.448													G	110557426	T	G	110557426	3	3	269	1	0	0	0	0	1	0	0	0	410	1609	56	5	644	5	AHCYL1	1	110557426	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	762843	110557426	138693195	49	132697											
KCNA3	3738	broad.mit.edu	37	chr1	111216388	111216388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccattgccctgtcgttcGgccagctcggtacccagagt	11	14	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:111216388G>A	uc001dzv.1	-	1	1268	c.1044C>T	c.(1042-1044)GCC>GCT	p.A348A		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	348	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		CCTGTCGTTCGGCCAGCTCGG	0.547													A	111216388	G	A	111216388	2	1	269	1	0	0	0	0	0	0	0	1	8004	1103	39	1		1	KCNA3	1	111216388	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	658962	111216388	138034233	50	132698											
CEPT1	10390	broad.mit.edu	37	chr1	111690419	111690419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgggcatatgagtactaCaggatgtgtattaaataaat	9	5	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:111690419C>T	uc001eah.1	+	2	291	c.83C>T	c.(82-84)ACA>ATA	p.T28I	CEPT1_uc001eag.2_Missense_Mutation_p.T28I|CEPT1_uc001eai.1_Missense_Mutation_p.T28I|CEPT1_uc001eaj.1_Missense_Mutation_p.T28I	NM_001007794	NP_001007795	Q9Y6K0	CEPT1_HUMAN	choline/ethanolaminephosphotransferase	28						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding				0		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)	ATGAGTACTACAGGATGTGTA	0.433													T	111690419	C	T	111690419	3	4	269	1	0	0	0	0	1	0	0	0	3264	478	17	4	85	4	CEPT1	1	111690419	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	474031	111690419	137560202	51	132699											
SIKE1	80143	broad.mit.edu	37	chr1	115323092	115323092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccggaagcgctgtccccGcctcccgcatagctgctacc	11	18	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:115323092G>A	uc001efo.3	-	1	217	c.137C>T	c.(136-138)GCG>GTG	p.A46V	SIKE1_uc001efp.3_Missense_Mutation_p.A46V	NM_025073	NP_079349	Q9BRV8	SIKE1_HUMAN	suppressor of IKK epsilon isoform 2	46						cytosol	protein binding				0						CGCTGTCCCCGCCTCCCGCAT	0.662													A	115323092	G	A	115323092	3	1	269	1	0	0	0	0	1	0	0	0	14320	1087	38	1	518	1	SIKE1	1	115323092	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	3632673	115323092	133927529	52	132700											
PEX11B	8799	broad.mit.edu	37	chr1	145518200	145518200	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacttcgcctgtgacaAtgtcctgtgggctggaaagt	12	9	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:145518200A>T	uc001eny.1	+	3	320	c.302A>T	c.(301-303)AAT>ATT	p.N101I	NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.N87I	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	101					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCTGTGACAATGTCCTGTGG	0.493													T	145518200	A	T	145518200	3	4	269	1	0	0	0	0	1	0	0	0	11738	101	4	5	330	5	PEX11B	1	145518200	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	30195108	145518200	103732421	53	132701											
BCL9	607	broad.mit.edu	37	chr1	147094129	147094129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatatccctggaagtcTtccctctagtacaccttata	6	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:147094129T>G	uc001epq.2	+	9	3700	c.2960T>G	c.(2959-2961)CTT>CGT	p.L987R	BCL9_uc010ozr.1_Missense_Mutation_p.L913R	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	987	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCTGGAAGTCTTCCCTCTAGT	0.493			T	IGH@|IGL@	B-ALL								G	147094129	T	G	147094129	3	3	269	1	0	0	0	0	1	0	0	0	1381	1609	56	5	2982	5	BCL9	1	147094129	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1575929	147094129	102156492	54	132702											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859378	149859378	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgcgcagcaagcggtgcactCgccccaccgggaactggaga	14	14	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:149859378C>G	uc001ete.2	-	1	89	c.89G>C	c.(88-90)CGA>CCA	p.R30P	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	30					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGTGCACTCGCCCCACCGG	0.667													G	149859378	C	G	149859378	3	3	269	1	0	0	0	0	1	0	0	0	7177	884	31	5	307	5	HIST2H2AB	1	149859378	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2765249	149859378	99391243	55	132703											
MTMR11	10903	broad.mit.edu	37	chr1	149905557	149905557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagcctccacagcggagaAgatcactgcccccagggtga	12	13	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:149905557A>C	uc001etl.3	-	9	1057	c.806T>G	c.(805-807)CTT>CGT	p.L269R	MTMR11_uc001etm.1_Missense_Mutation_p.L197R|MTMR11_uc010pbm.1_Missense_Mutation_p.L241R|MTMR11_uc010pbn.1_Missense_Mutation_p.L111R	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	269	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	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)			ACAGCGGAGAAGATCACTGCC	0.557													C	149905557	A	C	149905557	3	2	269	1	0	0	0	0	1	0	0	0	9940	72	3	5	1398	5	MTMR11	1	149905557	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	46179	149905557	99345064	56	132704											
CTSS	1520	broad.mit.edu	37	chr1	150722509	150722509	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtagaggaagaaagaaggatGacgcgcatctacaccaacag	12	8	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:150722509G>A	uc001evn.2	-	6	899	c.766C>T	c.(766-768)CAT>TAT	p.H256Y	CTSS_uc010pcj.1_Missense_Mutation_p.H206Y|CTSS_uc001evo.1_Missense_Mutation_p.H256Y	NM_004079	NP_004070	P25774	CATS_HUMAN	cathepsin S preproprotein	256					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity				0	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGAAGGATGACGCGCATCT	0.333													A	150722509	G	A	150722509	3	1	269	1	0	0	0	0	1	0	0	0	4041	1290	45	4	241	4	CTSS	1	150722509	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	816952	150722509	98528112	57	132705											
SELENBP1	8991	broad.mit.edu	37	chr1	151338906	151338906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgctgccagtcccataCatataagtggctcccgtaca	9	13	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:151338906C>T	uc001exx.2	-	7	735	c.688G>A	c.(688-690)GTA>ATA	p.V230I	SELENBP1_uc010pcy.1_Missense_Mutation_p.V272I|SELENBP1_uc001exy.2_Missense_Mutation_p.V127I|SELENBP1_uc001exz.2_Missense_Mutation_p.V127I|SELENBP1_uc010pcz.1_Missense_Mutation_p.V168I|SELENBP1_uc009wms.2_Missense_Mutation_p.V66I|SELENBP1_uc009wmt.2_Missense_Mutation_p.V127I|SELENBP1_uc001eya.2_Missense_Mutation_p.V166I|SELENBP1_uc009wmu.2_Missense_Mutation_p.V127I	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	230					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	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)			CAGTCCCATACATATAAGTGG	0.572													T	151338906	C	T	151338906	3	4	269	1	0	0	0	0	1	0	0	0	14014	478	17	4	754	4	SELENBP1	1	151338906	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	616397	151338906	97911715	58	132706											
RPTN	126638	broad.mit.edu	37	chr1	152128952	152128952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatttgtgactcacttttTtaccagagctggagtcttga	9	7	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152128952T>G	uc001ezs.1	-	3	688	c.623A>C	c.(622-624)AAA>ACA	p.K208T		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	208	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						ACTCACTTTTTTACCAGAGCT	0.423													G	152128952	T	G	152128952	3	3	269	1	0	0	0	0	1	0	0	0	13664	1841	64	5	1735	5	RPTN	1	152128952	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	790046	152128952	97121669	59	132707											
FLG	2312	broad.mit.edu	37	chr1	152280726	152280726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcggcccaagaggaagcTtcatgatgatgcgaccctga	12	11	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152280726T>G	uc001ezu.1	-	3	6672	c.6636A>C	c.(6634-6636)GAA>GAC	p.E2212D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2212	Ser-rich.|Filaggrin 13.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGGAAGCTTCATGATGAT	0.567									Ichthyosis				G	152280726	T	G	152280726	3	3	269	1	0	0	0	0	1	0	0	0	5922	1606	56	5	5553	5	FLG	1	152280726	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	151774	152280726	96969895	60	132708											
FLG	2312	broad.mit.edu	37	chr1	152282859	152282859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgctcgtggtaggatccCtgccttcctcctctgcttga	10	13	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152282859C>T	uc001ezu.1	-	3	4539	c.4503G>A	c.(4501-4503)CAG>CAA	p.Q1501Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTAGGATCCCTGCCTTCCTC	0.592									Ichthyosis				T	152282859	C	T	152282859	2	4	269	1	0	0	0	0	0	0	0	1	5922	680	24	4		4	FLG	1	152282859	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2133	152282859	96967762	61	132709											
FLG	2312	broad.mit.edu	37	chr1	152286146	152286146	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgatcgctgactgcagatgAagcttgcccgcgcccagtgg	13	13	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152286146A>T	uc001ezu.1	-	3	1252	c.1216T>A	c.(1216-1218)TCA>ACA	p.S406T	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	406	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCAGATGAAGCTTGCCCG	0.567									Ichthyosis				T	152286146	A	T	152286146	3	4	269	1	0	0	0	0	1	0	0	0	5922	246	9	5	10973	5	FLG	1	152286146	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3287	152286146	96964475	62	132710											
KPRP	448834	broad.mit.edu	37	chr1	152732447	152732447	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgaagcgtcacaacctgTtcagacttgcttcgtagaat	10	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:152732447T>A	uc001fal.1	+	2	441	c.383T>A	c.(382-384)GTT>GAT	p.V128D		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	128	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACAACCTGTTCAGACTTGC	0.498													A	152732447	T	A	152732447	3	1	269	1	0	0	0	0	1	0	0	0	8436	1725	60	5	385	5	KPRP	1	152732447	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	446301	152732447	96518174	63	132711											
SPRR2F	6705	broad.mit.edu	37	chr1	153085145	153085145	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatggctctgggcacTttggcgcggggcacacagga	17	10	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:153085145T>G	uc001fbi.2	-	2	124	c.65A>C	c.(64-66)AAG>ACG	p.K22T	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	22	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.|1.				keratinization	cornified envelope|cytoplasm					0	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)			CTCTGGGCACTTTGGCGCGGG	0.572													G	153085145	T	G	153085145	3	3	269	1	0	0	0	0	1	0	0	0	15100	1609	56	5	157	5	SPRR2F	1	153085145	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	352698	153085145	96165476	64	132712											
NUP210L	91181	broad.mit.edu	37	chr1	154030652	154030652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgggcgtttggaagagccaAgaaccctcacagtcactaac	10	11	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:154030652A>C	uc001fdw.2	-	22	3092	c.3020T>G	c.(3019-3021)CTT>CGT	p.L1007R	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.L1007R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1007						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	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)			GGAAGAGCCAAGAACCCTCAC	0.393													C	154030652	A	C	154030652	3	2	269	1	0	0	0	0	1	0	0	0	10761	72	3	5	2722	5	NUP210L	1	154030652	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	945507	154030652	95219969	65	132713											
ATP8B2	57198	broad.mit.edu	37	chr1	154318828	154318828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatctacacctccgtgcTcatgttcttcattccctatg	7	14	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:154318828T>C	uc001fex.2	+	25	2999	c.2999T>C	c.(2998-3000)CTC>CCC	p.L1000P		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	986	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTCCGTGCTCATGTTCTTC	0.552													C	154318828	T	C	154318828	3	2	269	1	0	0	0	0	1	0	0	0	1195	1551	54	3	3227	3	ATP8B2	1	154318828	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	288176	154318828	94931793	66	132714											
PBXIP1	57326	broad.mit.edu	37	chr1	154918085	154918085	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaaagaagtggctgaAgatgaagtcctcaaagtcat	10	8	3	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:154918085A>C	uc001ffr.2	-	10	2124	c.2065T>G	c.(2065-2067)TTC>GTC	p.F689V	PBXIP1_uc001ffs.2_Missense_Mutation_p.F660V|PBXIP1_uc010pep.1_Missense_Mutation_p.F534V	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	689					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	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)			AAGTGGCTGAAGATGAAGTCC	0.542													C	154918085	A	C	154918085	3	2	269	1	0	0	0	0	1	0	0	0	11496	72	3	5	138	5	PBXIP1	1	154918085	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	599257	154918085	94332536	67	132715											
SYT11	23208	broad.mit.edu	37	chr1	155838114	155838114	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggactatggggaagaActaaggagccctattacaag	11	6	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:155838114A>C	uc001fmg.2	+	2	656	c.393A>C	c.(391-393)GAA>GAC	p.E131D	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	131	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATGGGGAAGAACTAAGGAGCC	0.527													C	155838114	A	C	155838114	3	2	269	1	0	0	0	0	1	0	0	0	15464	40	2	5	399	5	SYT11	1	155838114	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	920029	155838114	93412507	68	132716											
SH2D2A	9047	broad.mit.edu	37	chr1	156779176	156779176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagataggattggagggcTtggggcgtggggccgggcgg	23	5	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:156779176T>G	uc001fqd.2	-	7	961	c.821A>C	c.(820-822)AAG>ACG	p.K274T	SH2D2A_uc001fqc.1_Missense_Mutation_p.K246T|SH2D2A_uc009wsh.2_Missense_Mutation_p.K284T|SH2D2A_uc001fqe.2_Missense_Mutation_p.K256T|SH2D2A_uc010phs.1_Missense_Mutation_p.K274T	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	274	Pro-rich.|SH3-binding (Potential).				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTGGAGGGCTTGGGGCGTGG	0.612													G	156779176	T	G	156779176	3	3	269	1	0	0	0	0	1	0	0	0	14232	1609	56	5	356	5	SH2D2A	1	156779176	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	941062	156779176	92471445	69	132717											
INSRR	3645	broad.mit.edu	37	chr1	156812193	156812193	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctggtccctacctcTgcctcaggccgcaaagatcg	9	16	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:156812193T>C	uc010pht.1	-	18	3488	c.3234A>G	c.(3232-3234)GCA>GCG	p.A1078A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1078	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCCTACCTCTGCCTCAGGCC	0.592													C	156812193	T	C	156812193	2	2	269	1	0	0	0	0	0	0	0	1	7774	1567	55	3		3	INSRR	1	156812193	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	33017	156812193	92438428	70	132718											
FCRL3	115352	broad.mit.edu	37	chr1	157667015	157667015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagtaagaccctgagtcTtcagtccacatggcagggat	10	12	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:157667015T>G	uc001frb.2	-	6	1051	c.759A>C	c.(757-759)GAA>GAC	p.E253D	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.E253D|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.E253D	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	253	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					ACCCTGAGTCTTCAGTCCACA	0.532													G	157667015	T	G	157667015	3	3	269	1	0	0	0	0	1	0	0	0	5796	1606	56	5	1485	5	FCRL3	1	157667015	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	854822	157667015	91583606	71	132719											
KIRREL	55243	broad.mit.edu	37	chr1	158061341	158061341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccatcatccagctggaagAgcgaggtgactggtagtgct	14	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158061341A>G	uc001frn.3	+	11	1870	c.1466A>G	c.(1465-1467)GAG>GGG	p.E489G	KIRREL_uc010pib.1_Missense_Mutation_p.E389G|KIRREL_uc009wsq.2_Missense_Mutation_p.E325G|KIRREL_uc001fro.3_Missense_Mutation_p.E303G	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	489	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CAGCTGGAAGAGCGAGGTGAC	0.592													G	158061341	A	G	158061341	3	3	269	1	0	0	0	0	1	0	0	0	8324	304	11	3	1508	3	KIRREL	1	158061341	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	394326	158061341	91189280	72	132720											
CD1A	909	broad.mit.edu	37	chr1	158226071	158226071	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcacatctccagcggcaAggtcagtcctgcactctccc	9	16	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158226071A>G	uc001frt.2	+	3	1136	c.603A>G	c.(601-603)CAA>CAG	p.Q201Q		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	201	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCCAGCGGCAAGGTCAGTCCT	0.463													G	158226071	A	G	158226071	2	3	269	1	0	0	0	0	0	0	0	1	2974	86	3	3		3	CD1A	1	158226071	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	164730	158226071	91024550	73	132721											
OR6Y1	391112	broad.mit.edu	37	chr1	158517021	158517021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagacagtaaatgatgGggttgaggagtggaacaatg	14	5	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158517021G>T	uc010pil.1	-	1	875	c.875C>A	c.(874-876)CCC>CAC	p.P292H		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GTAAATGATGGGGTTGAGGAG	0.468													T	158517021	G	T	158517021	3	4	269	1	0	0	0	0	1	0	0	0	11213	1232	43	5	104	5	OR6Y1	1	158517021	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	290950	158517021	90733600	74	132722											
SPTA1	6708	broad.mit.edu	37	chr1	158637785	158637785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgttttccagctgggtcTtattaactgccaactccttt	7	10	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158637785T>G	uc001fst.1	-	15	2100	c.1901A>C	c.(1900-1902)AAG>ACG	p.K634T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	634	Spectrin 7.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAGCTGGGTCTTATTAACTGC	0.418													G	158637785	T	G	158637785	3	3	269	1	0	0	0	0	1	0	0	0	15115	1609	56	5	5510	5	SPTA1	1	158637785	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	120764	158637785	90612836	75	132723											
MNDA	4332	broad.mit.edu	37	chr1	158815671	158815671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatcatctgtgtctgacTttaatcaaaattttgaggtc	7	7	4	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:158815671T>G	uc001fsz.1	+	5	1065	c.865T>G	c.(865-867)TTT>GTT	p.F289V		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	289	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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					TGTGTCTGACTTTAATCAAAA	0.343													G	158815671	T	G	158815671	3	3	269	1	0	0	0	0	1	0	0	0	9676	1609	56	5	879	5	MNDA	1	158815671	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	177886	158815671	90434950	76	132724											
DARC	2532	broad.mit.edu	37	chr1	159175526	159175526	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctggctggcctgtcctGgcacagctggctgtgggcag	16	13	0	0	rs56326732		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159175526G>T	uc001fto.2	+	2	537	c.297G>T	c.(295-297)CTG>CTT	p.L99L	DARC_uc001ftp.3_Silent_p.L101L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	99	Helical; Name=2; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					GGCCTGTCCTGGCACAGCTGG	0.617													T	159175526	G	T	159175526	2	4	269	1	0	0	0	0	0	0	0	1	4240	1335	47	5		5	DARC	1	159175526	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	359855	159175526	90075095	77	132725											
DARC	2532	broad.mit.edu	37	chr1	159175541	159175542	+	Missense_Mutation	DNP	GG	GG	TT													gtcctggcacagctggctgtGggcagtgccctcttcagcat							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159175541_159175542GG>TT	uc001fto.2	+	2	552_553	c.312_313GG>TT	c.(310-315)GTGGGC>GTTTGC	p.G105C	DARC_uc001ftp.3_Missense_Mutation_p.G107C	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	105	Helical; Name=2; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					AGCTGGCTGTGGGCAGTGCCCT	0.609													TT	159175542	GG	TT	159175541	3	4	269	1	0	0	0	0	1	0	0	0	4240	1335	47	5	345	5	DARC	1	159175541	Missense_Mutation	DNP	GG	TCGA-HU-A4GH-01A-11D-A24D-08	15	159175541	90075080	78	132726											
OR10J3	441911	broad.mit.edu	37	chr1	159284016	159284016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccagtgatccagaggccAgttggatacaggccctctta	10	13	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159284016A>C	uc010piu.1	-	1	434	c.434T>G	c.(433-435)CTG>CGG	p.L145R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					TCCAGAGGCCAGTTGGATACA	0.517													C	159284016	A	C	159284016	3	2	269	1	0	0	0	0	1	0	0	0	10911	188	7	5	557	5	OR10J3	1	159284016	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	108475	159284016	89966605	79	132727											
OR10J1	26476	broad.mit.edu	37	chr1	159409693	159409693	+	Missense_Mutation	SNP	A	A	C													tccttgcactatacatcttaAccttagcaggcaatatcatc							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159409693A>C	uc010piv.1	+	1	145	c.145A>C	c.(145-147)ACC>CCC	p.T49P	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	49	Helical; Name=1; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					ATACATCTTAACCTTAGCAGG	0.438													C	159409693	A	C	159409693	3	2	269	1	0	0	0	0	1	0	0	0	10910	43	2	5	147	5	OR10J1	1	159409693	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	125677	159409693	89840928	80	132728	689	2									
OR10J1	26476	broad.mit.edu	37	chr1	159409696	159409696	+	Missense_Mutation	SNP	T	T	G													ttgcactatacatcttaaccTtagcaggcaatatcatcatt							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159409696T>G	uc010piv.1	+	1	148	c.148T>G	c.(148-150)TTA>GTA	p.L50V	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	50	Helical; Name=1; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CATCTTAACCTTAGCAGGCAA	0.438													G	159409696	T	G	159409696	3	3	269	1	0	0	0	0	1	0	0	0	10910	1606	56	5	150	5	OR10J1	1	159409696	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3	159409696	89840925	81	132729	689	2									
OR10J1	26476	broad.mit.edu	37	chr1	159410501	159410501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggctgttggtgggaAgttttcctgaccatgtagga	16	6	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159410501A>C	uc010piv.1	+	1	953	c.953A>C	c.(952-954)AAG>ACG	p.K318T	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	318	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					GTTGGTGGGAAGTTTTCCTGA	0.488													C	159410501	A	C	159410501	3	2	269	1	0	0	0	0	1	0	0	0	10910	72	3	5	955	5	OR10J1	1	159410501	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	805	159410501	89840120	82	132730											
OR10J5	127385	broad.mit.edu	37	chr1	159505755	159505755	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagctagaaaatcccaAgaaaatgaattctgacactt	5	9	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:159505755A>C	uc010piw.1	-	1	43	c.43T>G	c.(43-45)TTG>GTG	p.L15V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					GAAAATCCCAAGAAAATGAAT	0.363													C	159505755	A	C	159505755	3	2	269	1	0	0	0	0	1	0	0	0	10912	69	3	5	888	5	OR10J5	1	159505755	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	95254	159505755	89744866	83	132731											
NR1I3	9970	broad.mit.edu	37	chr1	161203037	161203037	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtccggatcagctcttcTtgctccttactcagttgcac	8	13	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:161203037T>G	uc001fzx.2	-	4	533	c.330A>C	c.(328-330)CAA>CAC	p.Q110H	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzg.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzh.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzi.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzj.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzk.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzl.2_Missense_Mutation_p.Q81H|NR1I3_uc001fzm.2_Missense_Mutation_p.Q35H|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzy.2_Missense_Mutation_p.Q110H|NR1I3_uc001fzz.2_Missense_Mutation_p.Q110H|NR1I3_uc001gaa.2_Missense_Mutation_p.Q110H|NR1I3_uc001gab.2_Missense_Mutation_p.Q110H|NR1I3_uc001gac.2_Missense_Mutation_p.Q81H|NR1I3_uc010pkm.1_Missense_Mutation_p.Q81H|NR1I3_uc010pkn.1_Missense_Mutation_p.Q110H	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	110					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			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAGCTCTTCTTGCTCCTTAC	0.592													G	161203037	T	G	161203037	3	3	269	1	0	0	0	0	1	0	0	0	10621	1606	56	5	862	5	NR1I3	1	161203037	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1697282	161203037	88047584	84	132732											
ADCY10	55811	broad.mit.edu	37	chr1	167870911	167870911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgcttacctatcttgactCggatgtctaggccttcttcc	7	12	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:167870911C>T	uc001ger.2	-	5	723	c.425G>A	c.(424-426)CGA>CAA	p.R142Q	ADCY10_uc009wvk.2_Missense_Mutation_p.R50Q|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.R141Q|ADCY10_uc009wvm.2_Intron	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	142	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TATCTTGACTCGGATGTCTAG	0.463													T	167870911	C	T	167870911	3	4	269	1	0	0	0	0	1	0	0	0	293	884	31	1	4523	1	ADCY10	1	167870911	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	6667874	167870911	81379710	85	132733											
F5	2153	broad.mit.edu	37	chr1	169519204	169519204	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaagatgttccacttataAgtataggtttcccctggttg	8	8	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:169519204A>C	uc001ggg.1	-	10	1591	c.1446T>G	c.(1444-1446)ACT>ACG	p.T482T	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	482	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCACTTATAAGTATAGGTTT	0.383													C	169519204	A	C	169519204	2	2	269	1	0	0	0	0	0	0	0	1	5348	59	3	5		5	F5	1	169519204	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1648293	169519204	79731417	86	132734											
FMO2	2327	broad.mit.edu	37	chr1	171162601	171162601	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcataattctaaacTtctggaatatttcaggattt	5	8	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:171162601T>G	uc001ghk.1	+	3	377	c.260T>G	c.(259-261)CTT>CGT	p.L87R	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	87					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATTCTAAACTTCTGGAATAT	0.343													G	171162601	T	G	171162601	3	3	269	1	0	0	0	0	1	0	0	0	5955	1609	56	5	266	5	FMO2	1	171162601	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1643397	171162601	78088020	87	132735											
FMO4	2329	broad.mit.edu	37	chr1	171310887	171310887	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacttgcctctcttctacTtatctgtaaatcttcacttt	2	13	5	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:171310887T>G	uc001gho.2	+	10	1803	c.1586T>G	c.(1585-1587)CTT>CGT	p.L529R		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	529	Helical; (Potential).				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCTCTTCTACTTATCTGTAAA	0.433													G	171310887	T	G	171310887	3	3	269	1	0	0	0	0	1	0	0	0	5957	1609	56	5	1616	5	FMO4	1	171310887	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	148286	171310887	77939734	88	132736											
SERPINC1	462	broad.mit.edu	37	chr1	173881028	173881028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagggatttgtctccaaaaAggcgattggctgatactaac	10	7	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:173881028A>C	uc001gjt.2	-	3	652	c.533T>G	c.(532-534)CTT>CGT	p.L178R		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	178			L -> H (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTCTCCAAAAAGGCGATTGGC	0.463													C	173881028	A	C	173881028	3	2	269	1	0	0	0	0	1	0	0	0	14109	72	3	5	881	5	SERPINC1	1	173881028	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2570141	173881028	75369593	89	132737											
FAM129A	116496	broad.mit.edu	37	chr1	184764288	184764288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgtggcctgggccgcGctgctttgccctcccatctc	12	18	1	0	rs150744246		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:184764288G>A	uc001gra.2	-	14	2804	c.2610C>T	c.(2608-2610)AGC>AGT	p.S870S	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	870					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						CCTGGGCCGCGCTGCTTTGCC	0.577													A	184764288	G	A	184764288	2	1	269	1	0	0	0	0	0	0	0	1	5436	1078	38	1		1	FAM129A	1	184764288	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	10883260	184764288	64486333	90	132738											
C1orf26	54823	broad.mit.edu	37	chr1	185143603	185143603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatattcaaatgataaTcaaattattttgcagagtcc	5	7	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:185143603T>G	uc001grg.3	+	5	438	c.324T>G	c.(322-324)AAT>AAG	p.N108K	C1orf26_uc001grh.3_Missense_Mutation_p.N108K	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	108											0						CAAATGATAATCAAATTATTT	0.323													G	185143603	T	G	185143603	3	3	269	1	0	0	0	0	1	0	0	0	2035	1432	50	5	338	5	C1orf26	1	185143603	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	379315	185143603	64107018	91	132739											
HMCN1	83872	broad.mit.edu	37	chr1	186077709	186077709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtaattacttggctcAgaaatggagaacggttacag	10	8	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:186077709A>G	uc001grq.1	+	71	11198	c.10969A>G	c.(10969-10971)AGA>GGA	p.R3657G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3657	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACTTGGCTCAGAAATGGAGA	0.428													G	186077709	A	G	186077709	3	3	269	1	0	0	0	0	1	0	0	0	7220	180	7	3	11251	3	HMCN1	1	186077709	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	934106	186077709	63172912	92	132740											
RGS18	64407	broad.mit.edu	37	chr1	192128435	192128435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtagatctgggcacTtggccaaagaaacaaggtga	12	9	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:192128435T>G	uc001gsg.2	+	2	381	c.205T>G	c.(205-207)TTG>GTG	p.L69V		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	69					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						ATCTGGGCACTTGGCCAAAGA	0.358													G	192128435	T	G	192128435	3	3	269	1	0	0	0	0	1	0	0	0	13300	1606	56	5	211	5	RGS18	1	192128435	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6050726	192128435	57122186	93	132741											
CFH	3075	broad.mit.edu	37	chr1	196654199	196654199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttttcttttcagaaaaaTcatgtgataatccttatatt	3	7	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:196654199T>C	uc001gtj.3	+	7	1036	c.796T>C	c.(796-798)TCA>CCA	p.S266P	CFH_uc001gti.3_Missense_Mutation_p.S266P|CFH_uc009wyw.2_Missense_Mutation_p.S266P|CFH_uc009wyx.2_Missense_Mutation_p.S202P	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	266	Sushi 5.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TTCAGAAAAATCATGTGATAA	0.284													C	196654199	T	C	196654199	3	2	269	1	0	0	0	0	1	0	0	0	3283	1435	50	3	822	3	CFH	1	196654199	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4525764	196654199	52596422	94	132742											
CRB1	23418	broad.mit.edu	37	chr1	197390201	197390201	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtacttgtgagaacTtgcctgggaattatacttgc	12	6	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:197390201T>A	uc001gtz.2	+	6	1378	c.1243T>A	c.(1243-1245)TTG>ATG	p.L415M	CRB1_uc010poz.1_Missense_Mutation_p.L346M|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.L303M|CRB1_uc010ppb.1_Missense_Mutation_p.L415M|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Translation_Start_Site|CRB1_uc001gub.1_Missense_Mutation_p.L64M	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	415	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TTGTGAGAACTTGCCTGGGAA	0.398													A	197390201	T	A	197390201	3	1	269	1	0	0	0	0	1	0	0	0	3848	1606	56	5	1265	5	CRB1	1	197390201	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	736002	197390201	51860420	95	132743											
RNPEP	6051	broad.mit.edu	37	chr1	201974779	201974779	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggagacttttgcatccaccGcctcccagctccacagcaat	7	16	0	1	rs148685424	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:201974779G>C	uc001gxd.2	+	11	1917	c.1888G>C	c.(1888-1890)GCC>CCC	p.A630P	ELF3_uc001gxg.3_5'Flank|RNPEP_uc001gxe.2_Missense_Mutation_p.A331P|RNPEP_uc001gxf.2_Missense_Mutation_p.A499P	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	630					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGCATCCACCGCCTCCCAGCT	0.582													C	201974779	G	C	201974779	3	2	269	1	0	0	0	0	1	0	0	0	13509	1087	38	5	1930	5	RNPEP	1	201974779	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	4584578	201974779	47275842	96	132744											
KDM5B	10765	broad.mit.edu	37	chr1	202704604	202704604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagctctctccaggtcacTcagactctctaatttggtgc	7	12	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:202704604T>C	uc001gyf.2	-	22	3492	c.3376A>G	c.(3376-3378)AGT>GGT	p.S1126G	KDM5B_uc009xag.2_Missense_Mutation_p.S1162G|KDM5B_uc001gyg.1_Missense_Mutation_p.S968G	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1126					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			ovary(2)|breast(2)|urinary_tract(1)	5						TCCAGGTCACTCAGACTCTCT	0.393													C	202704604	T	C	202704604	3	2	269	1	0	0	0	0	1	0	0	0	8134	1551	54	3	1282	3	KDM5B	1	202704604	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	729825	202704604	46546017	97	132745											
FMOD	2331	broad.mit.edu	37	chr1	203316609	203316609	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgggcgccccccggaAgtagctatcggggacggtgt	16	12	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:203316609A>C	uc001gzr.2	-	2	926	c.790T>G	c.(790-792)TTC>GTC	p.F264V	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	264	LRR 7.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCCCCCCGGAAGTAGCTATCG	0.562													C	203316609	A	C	203316609	3	2	269	1	0	0	0	0	1	0	0	0	5959	72	3	5	348	5	FMOD	1	203316609	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	612005	203316609	45934012	98	132746											
OPTC	26254	broad.mit.edu	37	chr1	203467901	203467901	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctcttcctcggaggActgcctacctgtatgcacgc	8	16	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:203467901A>T	uc001gzu.1	+	4	579	c.463A>T	c.(463-465)ACT>TCT	p.T155S		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	155	LRR 1.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCTCGGAGGACTGCCTACCT	0.572													T	203467901	A	T	203467901	3	4	269	1	0	0	0	0	1	0	0	0	10888	275	10	5	473	5	OPTC	1	203467901	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	151292	203467901	45782720	99	132747											
LGTN	1939	broad.mit.edu	37	chr1	206773628	206773628	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttacctttttgtagcTtgacttctttatgtccagtt	6	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:206773628T>A	uc001heh.2	-	8	1146	c.937A>T	c.(937-939)AGC>TGC	p.S313C	LGTN_uc009xbw.2_Missense_Mutation_p.S189C	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	313					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTTTGTAGCTTGACTTCTTT	0.468													A	206773628	T	A	206773628	3	1	269	1	0	0	0	0	1	0	0	0	8760	1609	56	5	849	5	LGTN	1	206773628	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3305727	206773628	42476993	100	132748											
PIGR	5284	broad.mit.edu	37	chr1	207107909	207107910	+	Frame_Shift_Ins	INS	-	-	A													acaagccggctgttctcgtcINSacagttcacgaaggccttgc					rs149926452	by1000genomes	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207107909_207107910insA	uc001hez.2	-	6	1744_1745	c.1560_1561insT	c.(1558-1563)TGTGACfs	p.C520fs	PIGR_uc009xbz.2_Frame_Shift_Ins_p.C520fs	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	520_521	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTGTTCTCGTCACAGTTCACGA	0.579													A	207107910	-	A	207107909	7	5	269	1	0	1	1	0	0	0	0	0	11897	826	29	0	757	0	PIGR	1	207107909	Frame_Shift_Ins	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	334281	207107909	42142712	101	132749	690	2									
PIGR	5284	broad.mit.edu	37	chr1	207107910	207107911	+	Frame_Shift_Ins	INS	-	-	A													caagccggctgttctcgtcaINScagttcacgaaggccttgct					rs149926452	by1000genomes	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207107909_207107910C>CA	uc001hez.3	-	5	1744_1745	c.1560_1561G>TG	c.(1558-1563)tgtgacfs	p.C520fs	PIGR_uc009xbz.3_Frame_Shift_Ins_p.C520fs	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	520	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGTTCTCGTCACAGTTCACGA	0.579													A	207107911	-	A	207107910	7	5	269	1	0	1	1	0	0	0	0	0	11897	157	6	0	758	0	PIGR	1	207107910	Frame_Shift_Ins	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	1	207107910	42142711	102	132750	690	2									
CR2	1380	broad.mit.edu	37	chr1	207639927	207639927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccggattagttattattctAcccccattgctgttggtacc	8	11	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207639927A>G	uc001hfw.2	+	2	209	c.115A>G	c.(115-117)ACC>GCC	p.T39A	CR2_uc001hfv.2_Missense_Mutation_p.T39A|CR2_uc009xch.2_Missense_Mutation_p.T39A	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	39	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						TTATTATTCTACCCCCATTGC	0.428													G	207639927	A	G	207639927	3	3	269	1	0	0	0	0	1	0	0	0	3842	391	14	3	121	3	CR2	1	207639927	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	532017	207639927	41610694	103	132751											
CR1L	1379	broad.mit.edu	37	chr1	207871182	207871182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctatttccacttaatctccAgcttggagcaaaagtggatt	8	9	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:207871182A>G	uc001hga.3	+	7	1227	c.1106A>G	c.(1105-1107)CAG>CGG	p.Q369R	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	369	Sushi 6.					cytoplasm|extracellular region|membrane					0						CTTAATCTCCAGCTTGGAGCA	0.423													G	207871182	A	G	207871182	3	3	269	1	0	0	0	0	1	0	0	0	3841	188	7	3	1132	3	CR1L	1	207871182	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	231255	207871182	41379439	104	132752											
FAM71A	149647	broad.mit.edu	37	chr1	212798506	212798506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaccggccaccggctgcgAagagtatgctggacatggcc	14	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:212798506A>G	uc001hjk.2	+	1	691	c.287A>G	c.(286-288)GAA>GGA	p.E96G	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	96										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACCGGCTGCGAAGAGTATGCT	0.572													G	212798506	A	G	212798506	3	3	269	1	0	0	0	0	1	0	0	0	5607	246	9	3	289	3	FAM71A	1	212798506	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4927324	212798506	36452115	105	132753											
CENPF	1063	broad.mit.edu	37	chr1	214819436	214819436	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaccaggagctagtgattCttgatgccgagaattccaaa	9	8	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:214819436C>A	uc001hkm.2	+	13	6697	c.6523C>A	c.(6523-6525)CTT>ATT	p.L2175I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2271	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTAGTGATTCTTGATGCCGA	0.408													A	214819436	C	A	214819436	3	1	269	1	0	0	0	0	1	0	0	0	3231	913	32	5	6569	5	CENPF	1	214819436	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2020930	214819436	34431185	106	132754											
USH2A	7399	broad.mit.edu	37	chr1	215987215	215987215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaacagcgatgtccaggcTtggggttatagagcactccg	12	11	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:215987215T>G	uc001hku.1	-	49	9989	c.9602A>C	c.(9601-9603)AAG>ACG	p.K3201T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3201	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGTCCAGGCTTGGGGTTATA	0.393										HNSCC(13;0.011)			G	215987215	T	G	215987215	3	3	269	1	0	0	0	0	1	0	0	0	17033	1609	56	5	6102	5	USH2A	1	215987215	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1167779	215987215	33263406	107	132755											
MIA3	375056	broad.mit.edu	37	chr1	222801279	222801279	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcaagataaactaaaAgtgccagaaagtgaaaacaa	8	6	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:222801279A>C	uc001hnl.2	+	4	726	c.717A>C	c.(715-717)AAA>AAC	p.K239N	MIA3_uc009xea.1_Missense_Mutation_p.K75N	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	239	Extracellular (Potential).				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			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ATAAACTAAAAGTGCCAGAAA	0.388													C	222801279	A	C	222801279	3	2	269	1	0	0	0	0	1	0	0	0	9565	69	3	5	731	5	MIA3	1	222801279	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	6814064	222801279	26449342	108	132756											
MIA3	375056	broad.mit.edu	37	chr1	222832160	222832160	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaggaagtaaaaacTtacaagtaagttcacctcct	8	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:222832160T>G	uc001hnl.2	+	19	4713	c.4704T>G	c.(4702-4704)ACT>ACG	p.T1568T	MIA3_uc001hnm.2_Silent_p.T446T	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1568	Cytoplasmic (Potential).|Potential.				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			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AAGTAAAAACTTACAAGTAAG	0.408													G	222832160	T	G	222832160	2	3	269	1	0	0	0	0	0	0	0	1	9565	1596	56	5		5	MIA3	1	222832160	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	30881	222832160	26418461	109	132757											
C1orf95	375057	broad.mit.edu	37	chr1	226784652	226784652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggatcatgagcatcTtctggggcatggacatggtc	15	8	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:226784652T>G	uc010pvn.1	+	2	457	c.352T>G	c.(352-354)TTC>GTC	p.F118V		NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	hypothetical protein LOC375057	118						integral to membrane				ovary(1)	1	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CATGAGCATCTTCTGGGGCAT	0.602													G	226784652	T	G	226784652	3	3	269	1	0	0	0	0	1	0	0	0	2072	1609	56	5	358	5	C1orf95	1	226784652	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3952492	226784652	22465969	110	132758											
C1orf69	200205	broad.mit.edu	37	chr1	228362473	228362473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctgcagaagcacctcgCgctatacaggatccggcgga	13	14	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:228362473C>T	uc001hsl.3	+	2	511	c.422C>T	c.(421-423)GCG>GTG	p.A141V	C1orf69_uc010pvw.1_5'UTR	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	141					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				AAGCACCTCGCGCTATACAGG	0.672													T	228362473	C	T	228362473	3	4	269	1	0	0	0	0	1	0	0	0	2057	768	27	1	428	1	C1orf69	1	228362473	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	1577821	228362473	20888148	111	132759											
OBSCN	84033	broad.mit.edu	37	chr1	228509606	228509606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggctcttccgcaccaaaAgtccggctgaagtttcagat	9	13	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:228509606A>G	uc009xez.1	+	55	15108	c.15064A>G	c.(15064-15066)AGT>GGT	p.S5022G	OBSCN_uc001hsn.2_Missense_Mutation_p.S5022G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5022					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCGCACCAAAAGTCCGGCTGA	0.637													G	228509606	A	G	228509606	3	3	269	1	0	0	0	0	1	0	0	0	10812	72	3	3	15278	3	OBSCN	1	228509606	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	147133	228509606	20741015	112	132760											
RYR2	6262	broad.mit.edu	37	chr1	237758836	237758836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatatggtatgtgcgggtgAgagcatgagccccgggcaag	16	8	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:237758836A>G	uc001hyl.1	+	34	4595	c.4475A>G	c.(4474-4476)GAG>GGG	p.E1492G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1492	Cytoplasmic (By similarity).|B30.2/SPRY 3.|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TGTGCGGGTGAGAGCATGAGC	0.468													G	237758836	A	G	237758836	3	3	269	1	0	0	0	0	1	0	0	0	13769	304	11	3	4609	3	RYR2	1	237758836	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	9249230	237758836	11491785	113	132761											
ZP4	57829	broad.mit.edu	37	chr1	238049176	238049176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttactgagtagctgcagcTgacatggagcctgcagagaa	12	9	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:238049176T>G	uc001hym.2	-	7	850	c.850A>C	c.(850-852)AGC>CGC	p.S284R	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	284	ZP.|Extracellular (Potential).				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			ovary(2)|skin(1)	3	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)			TAGCTGCAGCTGACATGGAGC	0.473													G	238049176	T	G	238049176	3	3	269	1	0	0	0	0	1	0	0	0	18215	1580	55	5	796	5	ZP4	1	238049176	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	290340	238049176	11201445	114	132762											
ZNF496	84838	broad.mit.edu	37	chr1	247464342	247464342	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgaccctccagcggaAgattttcccacagttcggac	10	12	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:247464342A>C	uc001ico.2	-	9	1708	c.1243T>G	c.(1243-1245)TTC>GTC	p.F415V	ZNF496_uc009xgv.2_Missense_Mutation_p.F451V|ZNF496_uc001icp.2_Missense_Mutation_p.F415V	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	415	C2H2-type 1; degenerate.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)			CTCCAGCGGAAGATTTTCCCA	0.657													C	247464342	A	C	247464342	3	2	269	1	0	0	0	0	1	0	0	0	17942	72	3	5	524	5	ZNF496	1	247464342	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	9415166	247464342	1786279	115	132763											
OR2AK2	391191	broad.mit.edu	37	chr1	248129218	248129218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaccactttttctgtgaAgttccagctctactatcatt	4	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:248129218A>C	uc010pzd.1	+	1	585	c.585A>C	c.(583-585)GAA>GAC	p.E195D	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)			TTTTCTGTGAAGTTCCAGCTC	0.438													C	248129218	A	C	248129218	3	2	269	1	0	0	0	0	1	0	0	0	10986	69	3	5	587	5	OR2AK2	1	248129218	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	664876	248129218	1121403	116	132764											
OR14I1	401994	broad.mit.edu	37	chr1	248845045	248845045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacaaagaaaacctcacaGgaaaccagggccaacacatg	7	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr1:248845045G>A	uc001ieu.1	-	1	561	c.561C>T	c.(559-561)TCC>TCT	p.S187S		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAACCTCACAGGAAACCAGGG	0.488													A	248845045	G	A	248845045	2	1	269	1	0	0	0	0	0	0	0	1	10947	987	35	4		4	OR14I1	1	248845045	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	715827	248845045	405576	117	132765											
RSAD2	91543	broad.mit.edu	37	chr2	7023620	7023620	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcccagcgtgagcatcgtGagcaatggaagcctgatccg	13	12	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:7023620G>A	uc002qyp.1	+	2	601	c.465G>A	c.(463-465)GTG>GTA	p.V155V		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing	155					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGAGCATCGTGAGCAATGGAA	0.493													A	7023620	G	A	7023620	2	1	269	1	0	0	0	0	0	0	0	1	13695	1277	45	4		4	RSAD2	2	7023620	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08		7023620	236175753	118	132766											
KIDINS220	57498	broad.mit.edu	37	chr2	8930148	8930148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgagccatgagaactgaaAgagaggctcaatctgttgtc	11	7	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:8930148A>G	uc002qzc.2	-	14	1665	c.1483T>C	c.(1483-1485)TTT>CTT	p.F495L	KIDINS220_uc010yiv.1_Missense_Mutation_p.F261L|KIDINS220_uc002qzd.2_Missense_Mutation_p.F453L|KIDINS220_uc010yiw.1_Missense_Mutation_p.F496L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	495	Cytoplasmic (Potential).|KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGAACTGAAAGAGAGGCTCA	0.398													G	8930148	A	G	8930148	3	3	269	1	0	0	0	0	1	0	0	0	8271	72	3	3	3900	3	KIDINS220	2	8930148	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1906528	8930148	234269225	119	132767											
APOB	338	broad.mit.edu	37	chr2	21251320	21251320	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttaatatctgcctgtgAaggactcctcatcaacataa	6	9	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:21251320A>C	uc002red.2	-	13	1836	c.1708T>G	c.(1708-1710)TCA>GCA	p.S570A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	570	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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGCCTGTGAAGGACTCCTC	0.438													C	21251320	A	C	21251320	3	2	269	1	0	0	0	0	1	0	0	0	785	246	9	5	12051	5	APOB	2	21251320	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	12321172	21251320	221948053	120	132768											
APOB	338	broad.mit.edu	37	chr2	21252624	21252624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacttgagttctggagttaActgctccatggtttggccca	11	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:21252624A>C	uc002red.2	-	12	1632	c.1504T>G	c.(1504-1506)TTA>GTA	p.L502V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	502	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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGGAGTTAACTGCTCCATG	0.458													C	21252624	A	C	21252624	3	2	269	1	0	0	0	0	1	0	0	0	785	40	2	5	12259	5	APOB	2	21252624	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1304	21252624	221946749	121	132769											
C2orf44	80304	broad.mit.edu	37	chr2	24262225	24262225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactttggagtccccaaacTtgacctctccactgtgaagc	8	13	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:24262225T>C	uc002rep.2	-	2	271	c.140A>G	c.(139-141)AAG>AGG	p.K47R	C2orf44_uc010eya.2_Missense_Mutation_p.K47R	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	47							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCCAAACTTGACCTCTCC	0.517													C	24262225	T	C	24262225	3	2	269	1	0	0	0	0	1	0	0	0	2168	1609	56	3	2037	3	C2orf44	2	24262225	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3009601	24262225	218937148	122	132770											
AGBL5	60509	broad.mit.edu	37	chr2	27278631	27278631	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccatctatggggccaaAgctgtgcttctctaccacca	9	15	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27278631A>G	uc002rie.2	+	7	1207	c.990A>G	c.(988-990)AAA>AAG	p.K330K	AGBL5_uc002ric.2_Silent_p.K330K|AGBL5_uc002rid.2_Silent_p.K330K|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	330					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGGGCCAAAGCTGTGCTTC	0.552													G	27278631	A	G	27278631	2	3	269	1	0	0	0	0	0	0	0	1	378	69	3	3		3	AGBL5	2	27278631	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3016406	27278631	215920742	123	132771											
NRBP1	29959	broad.mit.edu	37	chr2	27663749	27663749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtgacatcacctgTcgtgcccccctctgtcaaga	12	13	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27663749T>C	uc002rko.2	+	15	2103	c.1271T>C	c.(1270-1272)GTC>GCC	p.V424A	NRBP1_uc002rkq.2_Missense_Mutation_p.V423A|NRBP1_uc002rkp.2_Missense_Mutation_p.V424A|NRBP1_uc002rkr.2_Missense_Mutation_p.V215A|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	424					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			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					ACATCACCTGTCGTGCCCCCC	0.602													C	27663749	T	C	27663749	3	2	269	1	0	0	0	0	1	0	0	0	10642	1667	58	3	1321	3	NRBP1	2	27663749	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	385118	27663749	215535624	124	132772											
C2orf16	84226	broad.mit.edu	37	chr2	27801181	27801181	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagattttggaaacagtggAgttgacagggtttcaaattg	12	5	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27801181A>C	uc002rkz.3	+	1	1793	c.1742A>C	c.(1741-1743)GAG>GCG	p.E581A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	581										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GAAACAGTGGAGTTGACAGGG	0.413													C	27801181	A	C	27801181	3	2	269	1	0	0	0	0	1	0	0	0	2157	304	11	5	1744	5	C2orf16	2	27801181	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	137432	27801181	215398192	125	132773											
C2orf16	84226	broad.mit.edu	37	chr2	27803126	27803126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcccctgctcctgtacaAgtctacatcaggcgaggaca	9	14	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:27803126A>C	uc002rkz.3	+	1	3738	c.3687A>C	c.(3685-3687)CAA>CAC	p.Q1229H	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1229										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTCCTGTACAAGTCTACATCA	0.463													C	27803126	A	C	27803126	3	2	269	1	0	0	0	0	1	0	0	0	2157	69	3	5	3689	5	C2orf16	2	27803126	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1945	27803126	215396247	126	132774											
TMEM178	130733	broad.mit.edu	37	chr2	39944178	39944178	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccatttccctctgtacTtatgccgccagtatctcgta	6	14	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:39944178T>G	uc002rrt.2	+	4	706	c.681T>G	c.(679-681)ACT>ACG	p.T227T	TMEM178_uc010fam.1_Silent_p.T181T	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	227	Helical; (Potential).					integral to membrane					0		all_hematologic(82;0.248)				CCCTCTGTACTTATGCCGCCA	0.428													G	39944178	T	G	39944178	2	3	269	1	0	0	0	0	0	0	0	1	16092	1596	56	5		5	TMEM178	2	39944178	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12141052	39944178	203255195	127	132775											
THADA	63892	broad.mit.edu	37	chr2	43458445	43458445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtctcggcccaaaagTtgacttctgctttttcaaac	8	11	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:43458445T>G	uc002rsw.3	-	38	5856	c.5504A>C	c.(5503-5505)AAC>ACC	p.N1835T	THADA_uc010far.2_Missense_Mutation_p.N1030T|THADA_uc002rsx.3_Missense_Mutation_p.N1835T|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1835							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGCCCAAAAGTTGACTTCTGC	0.498													G	43458445	T	G	43458445	3	3	269	1	0	0	0	0	1	0	0	0	15837	1725	60	5	361	5	THADA	2	43458445	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3514267	43458445	199740928	128	132776											
ABCG5	64240	broad.mit.edu	37	chr2	44065791	44065791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagacccatggaccctcCgggggtcaaagatgagaggt	15	9	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:44065791C>T	uc002rtn.2	-	1	168	c.28G>A	c.(28-30)GGA>AGA	p.G10R	ABCG5_uc002rto.2_5'UTR|ABCG5_uc002rtp.2_5'UTR|ABCG8_uc002rtq.2_5'Flank|ABCG8_uc010yoa.1_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	10	Cytoplasmic (Potential).				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			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGGACCCTCCGGGGGTCAAA	0.637													T	44065791	C	T	44065791	3	4	269	1	0	0	0	0	1	0	0	0	71	661	23	1	1979	1	ABCG5	2	44065791	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	607346	44065791	199133582	129	132777											
C2orf34	79823	broad.mit.edu	37	chr2	44599904	44599904	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctgcgacatgtatctgtaaGaagatttgaatcatttaatc	7	7	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:44599904G>C	uc002rum.2	+	2	292	c.188G>C	c.(187-189)AGA>ACA	p.R63T	C2orf34_uc002rul.2_Missense_Mutation_p.R63T	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	hypothetical protein LOC79823	63						cytoplasm	calmodulin-lysine N-methyltransferase activity				0		all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17)				GTATCTGTAAGAAGATTTGAA	0.368													C	44599904	G	C	44599904	3	2	269	1	0	0	0	0	1	0	0	0	2163	942	33	5	194	5	C2orf34	2	44599904	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	534113	44599904	198599469	130	132778											
SIX2	10736	broad.mit.edu	37	chr2	45235747	45235747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttgaaccagttgctgAcctgtgtggtggtgaggccc	15	9	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:45235747A>G	uc002ruo.2	-	1	796	c.503T>C	c.(502-504)GTC>GCC	p.V168A	SIX2_uc002rup.2_Missense_Mutation_p.V168A	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	168	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCAGTTGCTGACCTGTGTGGT	0.677													G	45235747	A	G	45235747	3	3	269	1	0	0	0	0	1	0	0	0	14347	275	10	3	380	3	SIX2	2	45235747	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	635843	45235747	197963626	131	132779											
SRBD1	55133	broad.mit.edu	37	chr2	45789805	45789805	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagacctgttttggatgcAccacctacagaattcatcct	6	12	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:45789805A>C	uc002rus.2	-	10	1472	c.1396T>G	c.(1396-1398)TGC>GGC	p.C466G	SRBD1_uc010yoc.1_5'UTR	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	466					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTTGGATGCACCACCTACAG	0.343													C	45789805	A	C	45789805	3	2	269	1	0	0	0	0	1	0	0	0	15132	159	6	5	1639	5	SRBD1	2	45789805	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	554058	45789805	197409568	132	132780											
PSME4	23198	broad.mit.edu	37	chr2	54114530	54114530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaattcgagcagtaaacTcagggacatgaggcgatatg	12	8	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:54114530T>C	uc002rxp.2	-	40	4651	c.4595A>G	c.(4594-4596)GAG>GGG	p.E1532G	PSME4_uc010yop.1_Missense_Mutation_p.E1418G|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.E907G|PSME4_uc010fbv.1_Missense_Mutation_p.E676G|PSME4_uc010fbt.1_Missense_Mutation_p.E19G	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1532					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			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGCAGTAAACTCAGGGACATG	0.368													C	54114530	T	C	54114530	3	2	269	1	0	0	0	0	1	0	0	0	12709	1551	54	3	964	3	PSME4	2	54114530	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8324725	54114530	189084843	133	132781											
TSPYL6	388951	broad.mit.edu	37	chr2	54482400	54482400	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagggtttctttgaaagaAgaacttaaacttgcagcctg	10	6	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:54482400A>C	uc002rxr.2	-	1	1010	c.889T>G	c.(889-891)TTC>GTC	p.F297V	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	297					nucleosome assembly	nucleus					0						CTTTGAAAGAAGAACTTAAAC	0.433													C	54482400	A	C	54482400	3	2	269	1	0	0	0	0	1	0	0	0	16660	72	3	5	347	5	TSPYL6	2	54482400	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	367870	54482400	188716973	134	132782											
TSPYL6	388951	broad.mit.edu	37	chr2	54483114	54483114	+	Frame_Shift_Del	DEL	C	C	-													tgcgggatcctggggcgcgaCcccctcctctggaagccggg							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:54483113_54483113AC>A	uc002rxr.2	-	0	297	c.176_176GT>T	c.(175-177)gtcfs	p.V59fs	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	59					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTGGGGCGCGACCCCCTCCTC	0.597													-	54483114	C	-	54483114	7	5	269	1	0	1	0	1	0	0	0	0	16660	507	18	0	1061	0	TSPYL6	2	54483114	Frame_Shift_Del	DEL	C	TCGA-HU-A4GH-01A-11D-A24D-08	714	54483114	188716259	135	132783											
VPS54	51542	broad.mit.edu	37	chr2	64139522	64139522	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctatccattatcgctacaAgcttagctgatatttcagct	6	10	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:64139522A>T	uc002scq.2	-	20	2745	c.2582T>A	c.(2581-2583)CTT>CAT	p.L861H	VPS54_uc002scp.2_Missense_Mutation_p.L849H|VPS54_uc002scn.2_Missense_Mutation_p.L23H|VPS54_uc002sco.2_Missense_Mutation_p.L346H|VPS54_uc010fct.2_Missense_Mutation_p.L708H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	861					protein transport|retrograde transport, endosome to Golgi						0						TATCGCTACAAGCTTAGCTGA	0.294													T	64139522	A	T	64139522	3	4	269	1	0	0	0	0	1	0	0	0	17213	72	3	5	367	5	VPS54	2	64139522	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	9656408	64139522	179059851	136	132784											
CEP68	23177	broad.mit.edu	37	chr2	65296690	65296690	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacatcccagggcccatgAgtggggagcagcccccacgc	14	15	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:65296690A>G	uc002sdl.3	+	2	326	c.112A>G	c.(112-114)AGT>GGT	p.S38G	CEP68_uc002sdj.2_Missense_Mutation_p.S38G|CEP68_uc010yqb.1_Missense_Mutation_p.S38G|CEP68_uc002sdk.3_Missense_Mutation_p.S38G|CEP68_uc010yqc.1_Missense_Mutation_p.S38G|CEP68_uc010yqd.1_Missense_Mutation_p.S38G	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	38					centrosome organization	centrosome				skin(1)	1						AGGGCCCATGAGTGGGGAGCA	0.612													G	65296690	A	G	65296690	3	3	269	1	0	0	0	0	1	0	0	0	3258	304	11	3	114	3	CEP68	2	65296690	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1157168	65296690	177902683	137	132785											
APLF	200558	broad.mit.edu	37	chr2	68729914	68729914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagaagagtcagctcttaCcattgaagccaaatctatgg	9	9	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:68729914C>A	uc002sep.2	+	3	393	c.220C>A	c.(220-222)CCA>ACA	p.P74T	APLF_uc010fdf.2_Missense_Mutation_p.P50T	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	74	FHA-like.				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			ovary(2)	2						TCAGCTCTTACCATTGAAGCC	0.303													A	68729914	C	A	68729914	3	1	269	1	0	0	0	0	1	0	0	0	776	507	18	5	230	5	APLF	2	68729914	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3433224	68729914	174469459	138	132786											
ASPRV1	151516	broad.mit.edu	37	chr2	70188132	70188132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtgtccagatcgccaTcagtgacctcctcccacaag	10	15	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:70188132T>C	uc002sfz.3	-	1	1266	c.689A>G	c.(688-690)GAT>GGT	p.D230G		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	230	Peptidase A2.|Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						CAGATCGCCATCAGTGACCTC	0.557													C	70188132	T	C	70188132	3	2	269	1	0	0	0	0	1	0	0	0	1058	1435	50	3	346	3	ASPRV1	2	70188132	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1458218	70188132	173011241	139	132787											
DQX1	165545	broad.mit.edu	37	chr2	74745709	74745709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagttactcaggaagtatGgaggggccaattccaccagc	12	10	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:74745709G>A	uc010yrw.1	-	12	2183	c.2018C>T	c.(2017-2019)CCA>CTA	p.P673L	DQX1_uc002smc.2_Missense_Mutation_p.P234L	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	673						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CAGGAAGTATGGAGGGGCCAA	0.368													A	74745709	G	A	74745709	3	1	269	1	0	0	0	0	1	0	0	0	4751	1348	47	4	139	4	DQX1	2	74745709	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	4557577	74745709	168453664	140	132788											
DQX1	165545	broad.mit.edu	37	chr2	74750496	74750496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggagggagaaggagaAgtcagccagccagtgagtga	19	5	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:74750496A>C	uc010yrw.1	-	5	1150	c.985T>G	c.(985-987)TTC>GTC	p.F329V	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	329	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						GAGAAGGAGAAGTCAGCCAGC	0.552													C	74750496	A	C	74750496	3	2	269	1	0	0	0	0	1	0	0	0	4751	72	3	5	1200	5	DQX1	2	74750496	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4787	74750496	168448877	141	132789											
LOXL3	84695	broad.mit.edu	37	chr2	74763252	74763252	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtccagagcagcgaacTtcactcaggtggatagcacc	10	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:74763252T>C	uc002smp.1	-	7	1191	c.1119A>G	c.(1117-1119)GAA>GAG	p.E373E	LOXL3_uc002smo.1_Silent_p.E12E|LOXL3_uc010ffm.1_Silent_p.E373E|LOXL3_uc002smq.1_Silent_p.E228E|LOXL3_uc010ffn.1_Silent_p.E228E	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	373	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						AGCAGCGAACTTCACTCAGGT	0.542													C	74763252	T	C	74763252	2	2	269	1	0	0	0	0	0	0	0	1	8901	1606	56	3		3	LOXL3	2	74763252	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12756	74763252	168436121	142	132790											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993376	96993376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccttgtggcccacaAgtatgactttaaactcagtc	9	12	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:96993376A>G	uc002svx.2	+	3	1342	c.1007A>G	c.(1006-1008)AAG>AGG	p.K336R	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.K328R|ITPRIPL1_uc002svy.2_Missense_Mutation_p.K344R|ITPRIPL1_uc010yul.1_Missense_Mutation_p.K328R	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	336	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						GTGGCCCACAAGTATGACTTT	0.572													G	96993376	A	G	96993376	3	3	269	1	0	0	0	0	1	0	0	0	7924	72	3	3	1047	3	ITPRIPL1	2	96993376	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	22230124	96993376	146205997	143	132791											
ARID5A	10865	broad.mit.edu	37	chr2	97215078	97215095	+	In_Frame_Del	DEL	GGAGCGGGAGGAGGAGCA	GGAGCGGGAGGAGGAGCA	-													gactcccccgaggcaggcggGgagcgggaggaggagcagga							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:97215077_97215094GGGAGCGGGAGGAGGAGCA>G	uc002swe.3	+	2	240_257	c.140_157GGGAGCGGGAGGAGGAGCA>G	c.(139-159)ggggagcgggaggaggagcag>gGag	p.EREEEQ54del	ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_Intron|ARID5A_uc002swg.3_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	54					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						gaggcaggcggggagcgggaggaggagcaggagcggga	0.647													-	97215095	GGAGCGGGAGGAGGAGCA	-	97215078	7	5	269	1	0	1	0	1	0	0	0	0	921	1219	43	0	151	0	ARID5A	2	97215078	In_Frame_Del	DEL	GGAGCGGGAGGAGGAGCA	TCGA-HU-A4GH-01A-11D-A24D-08	221702	97215078	145984295	144	132792											
KIAA1310	55683	broad.mit.edu	37	chr2	97285260	97285260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtccacagcaacacggcGcagcactggctcattacaag	9	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:97285260G>A	uc002swn.3	-	5	645	c.499C>T	c.(499-501)CGC>TGC	p.R167C	KIAA1310_uc002swh.3_Missense_Mutation_p.R55C|KIAA1310_uc002swi.3_Missense_Mutation_p.R68C|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R80C|KIAA1310_uc010fhz.2_5'UTR|KIAA1310_uc002swl.3_Missense_Mutation_p.R68C|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_5'UTR|KIAA1310_uc002swp.1_Missense_Mutation_p.R68C|KIAA1310_uc002swq.1_5'UTR|KIAA1310_uc010fhy.1_Missense_Mutation_p.R68C	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	167											0						GCAACACGGCGCAGCACTGGC	0.532													A	97285260	G	A	97285260	3	1	269	1	0	0	0	0	1	0	0	0	8222	1087	38	1	2205	1	KIAA1310	2	97285260	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	70182	97285260	145914113	145	132793											
VWA3B	200403	broad.mit.edu	37	chr2	98846549	98846549	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctatgatttcaaccccAgaaaagtgtgcaaagcctca	7	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:98846549A>G	uc002syo.2	+	16	2451	c.2187A>G	c.(2185-2187)CCA>CCG	p.P729P	VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Silent_p.P248P|VWA3B_uc002sym.2_Silent_p.P729P|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.P386P|VWA3B_uc002syp.1_Silent_p.P121P|VWA3B_uc002syq.1_Silent_p.P5P|VWA3B_uc002syr.1_Silent_p.P46P	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	729										ovary(3)|large_intestine(2)|skin(1)	6						TTTCAACCCCAGAAAAGTGTG	0.368													G	98846549	A	G	98846549	2	3	269	1	0	0	0	0	0	0	0	1	17238	175	7	3		3	VWA3B	2	98846549	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1561289	98846549	144352824	146	132794											
MGAT4A	11320	broad.mit.edu	37	chr2	99242292	99242292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcaacaccattctcaAattttccttcaaaataaaaa	1	11	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:99242292A>C	uc002sze.2	-	15	1789	c.1475T>G	c.(1474-1476)TTT>TGT	p.F492C	C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.F364C|MGAT4A_uc010fil.2_Missense_Mutation_p.F246C	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	492	Lumenal (Potential).				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			skin(1)	1						ACCATTCTCAAATTTTCCTTC	0.363													C	99242292	A	C	99242292	3	2	269	1	0	0	0	0	1	0	0	0	9545	14	1	5	219	5	MGAT4A	2	99242292	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	395743	99242292	143957081	147	132795											
C2orf55	343990	broad.mit.edu	37	chr2	99413927	99413927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccccctccgcttctgccgAgtgacggtgatccagggtgg	14	14	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:99413927A>G	uc002szf.1	-	8	2784	c.2490T>C	c.(2488-2490)ACT>ACC	p.T830T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	830											0						GCTTCTGCCGAGTGACGGTGA	0.602													G	99413927	A	G	99413927	2	3	269	1	0	0	0	0	0	0	0	1	2176	291	11	3		3	C2orf55	2	99413927	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	171635	99413927	143785446	148	132796											
IL1RL1	9173	broad.mit.edu	37	chr2	102959826	102959826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgactgtctggccctgaaTttgcatggcttgagaaggca	12	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:102959826T>G	uc002tbu.1	+	8	1192	c.921T>G	c.(919-921)AAT>AAG	p.N307K	IL1RL1_uc010ywa.1_Missense_Mutation_p.N190K|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.N307K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	307	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						TGGCCCTGAATTTGCATGGCT	0.433													G	102959826	T	G	102959826	3	3	269	1	0	0	0	0	1	0	0	0	7663	1490	52	5	947	5	IL1RL1	2	102959826	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3545899	102959826	140239547	149	132797											
GPR45	11250	broad.mit.edu	37	chr2	105859262	105859262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggctcagttacctcaAgtccgtcttcaaccccatcg	7	16	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:105859262A>G	uc002tco.1	+	1	1063	c.947A>G	c.(946-948)AAG>AGG	p.K316R		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	316	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						AGTTACCTCAAGTCCGTCTTC	0.547													G	105859262	A	G	105859262	3	3	269	1	0	0	0	0	1	0	0	0	6696	72	3	3	949	3	GPR45	2	105859262	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2899436	105859262	137340111	150	132798											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460346	107460346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcggggttgctgtcggtgaAgtagatgaaaatcagcaaaa	14	5	1	3	rs138857139		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:107460346A>C	uc002tdq.2	-	2	207	c.88T>G	c.(88-90)TTC>GTC	p.F30V	ST6GAL2_uc002tdr.2_Missense_Mutation_p.F30V|ST6GAL2_uc002tds.3_Missense_Mutation_p.F30V	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	30	Helical; Signal-anchor for type II membrane protein; (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTGTCGGTGAAGTAGATGAAA	0.562													C	107460346	A	C	107460346	3	2	269	1	0	0	0	0	1	0	0	0	15221	72	3	5	1608	5	ST6GAL2	2	107460346	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1601084	107460346	135739027	151	132799											
IL1RN	3557	broad.mit.edu	37	chr2	113890280	113890280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaaagcaggacaagcgCttcgccttcatccgctcaga	9	13	2	2	rs139208403		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:113890280C>T	uc002tjb.2	+	4	430	c.366C>T	c.(364-366)CGC>CGT	p.R122R	IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Silent_p.R88R|IL1RN_uc002tiz.2_Silent_p.R125R|IL1RN_uc002tja.2_Silent_p.R104R	NM_173842	NP_776214	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 1	122					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(2)	2					Anakinra(DB00026)	AGGACAAGCGCTTCGCCTTCA	0.577									Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	113890280	C	T	113890280	2	4	269	1	0	0	0	0	0	0	0	1	7665	784	28	2		2	IL1RN	2	113890280	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	6429934	113890280	129309093	152	132800											
SCTR	6344	broad.mit.edu	37	chr2	120204334	120204334	+	Splice_Site	DEL	C	C	-													gccccagtcctggaaacttaCctggaatgagccaagggcta							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:120204334delC	uc002tma.2	-	11	1366	c.1140_splice	c.e11+1	p.Q380_splice	SCTR_uc002tlz.2_Splice_Site_p.Q202_splice	NM_002980	NP_002971	P47872	SCTR_HUMAN	secretin receptor precursor						digestion|excretion	integral to plasma membrane	secretin receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Secretin(DB00021)	TGGAAACTTACCTGGAATGAG	0.532													-	120204334	C	-	120204334	8	5	269	1	0	1	0	1	0	0	1	0	13943	521	18	0	193	0	SCTR	2	120204334	Splice_Site	DEL	C	TCGA-HU-A4GH-01A-11D-A24D-08	6314054	120204334	122995039	153	132801											
PCDP1	200373	broad.mit.edu	37	chr2	120366116	120366116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcctatgtcttttaaacTtaaaaaagagcttactgaag	6	6	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:120366116T>G	uc002tmb.2	+	13	1406	c.314T>G	c.(313-315)CTT>CGT	p.L105R	PCDP1_uc010yyq.1_Missense_Mutation_p.L235R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	391						cilium	calmodulin binding				0	Colorectal(110;0.196)					TCTTTTAAACTTAAAAAAGAG	0.368													G	120366116	T	G	120366116	3	3	269	1	0	0	0	0	1	0	0	0	11572	1609	56	5	328	5	PCDP1	2	120366116	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	161782	120366116	122833257	154	132802											
PCDP1	200373	broad.mit.edu	37	chr2	120387510	120387510	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcaaatcaagcagagTtattccttcttcaatctgca	6	9	5	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:120387510T>G	uc002tmb.2	+	18	1944	c.852T>G	c.(850-852)AGT>AGG	p.S284R	PCDP1_uc010yyq.1_Missense_Mutation_p.S414R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	570						cilium	calmodulin binding				0	Colorectal(110;0.196)					TCAAGCAGAGTTATTCCTTCT	0.348													G	120387510	T	G	120387510	3	3	269	1	0	0	0	0	1	0	0	0	11572	1722	60	5	886	5	PCDP1	2	120387510	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	21394	120387510	122811863	155	132803											
MYO7B	4648	broad.mit.edu	37	chr2	128322862	128322862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcccatgcaccccaacTcagtccagggtgtggacgac	10	15	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:128322862T>C	uc002top.2	+	4	240	c.187T>C	c.(187-189)TCA>CCA	p.S63P		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	63						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACCCCAACTCAGTCCAGGG	0.597													C	128322862	T	C	128322862	3	2	269	1	0	0	0	0	1	0	0	0	10083	1551	54	3	197	3	MYO7B	2	128322862	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7935352	128322862	114876511	156	132804											
MYO7B	4648	broad.mit.edu	37	chr2	128324348	128324348	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtctttgccatcgccaAcaactgctacttcagcatga	7	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:128324348A>C	uc002top.2	+	5	469	c.416A>C	c.(415-417)AAC>ACC	p.N139T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	139	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCATCGCCAACAACTGCTAC	0.587													C	128324348	A	C	128324348	3	2	269	1	0	0	0	0	1	0	0	0	10083	43	2	5	430	5	MYO7B	2	128324348	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1486	128324348	114875025	157	132805											
MYO7B	4648	broad.mit.edu	37	chr2	128342423	128342423	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggccttcctacagcccaAgaacatccacgatgccagat	7	15	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:128342423A>C	uc002top.2	+	14	1678	c.1625A>C	c.(1624-1626)AAG>ACG	p.K542T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	542	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTACAGCCCAAGAACATCCAC	0.542													C	128342423	A	C	128342423	3	2	269	1	0	0	0	0	1	0	0	0	10083	72	3	5	1675	5	MYO7B	2	128342423	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	18075	128342423	114856950	158	132806											
POTEE	445582	broad.mit.edu	37	chr2	131976386	131976386	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtaccacgtccgtggAgaagatctggacaagctcca	11	13	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:131976386A>C	uc002tsn.2	+	1	463	c.411A>C	c.(409-411)GGA>GGC	p.G137G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	137							ATP binding				0						ACGTCCGTGGAGAAGATCTGG	0.587													C	131976386	A	C	131976386	2	2	269	1	0	0	0	0	0	0	0	1	12264	291	11	5		5	POTEE	2	131976386	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3633963	131976386	111222987	159	132807											
POTEE	445582	broad.mit.edu	37	chr2	132021841	132021841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctcctccctagagaAgagctacgagctgcccgatg	10	15	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:132021841A>G	uc002tsn.2	+	15	2865	c.2813A>G	c.(2812-2814)AAG>AGG	p.K938R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.K538R|POTEE_uc002tsl.2_Missense_Mutation_p.K520R|POTEE_uc010fmy.1_Missense_Mutation_p.K402R	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	938	Actin-like.						ATP binding				0						TCCCTAGAGAAGAGCTACGAG	0.617													G	132021841	A	G	132021841	3	3	269	1	0	0	0	0	1	0	0	0	12264	72	3	3	2871	3	POTEE	2	132021841	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	45455	132021841	111177532	160	132808											
MGAT5	4249	broad.mit.edu	37	chr2	135099202	135099202	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccaaggaatctggattTaagattgcagagacagcttt	10	7	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:135099202T>G	uc002ttv.1	+	7	994	c.849T>G	c.(847-849)TTT>TTG	p.F283L		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	283	Lumenal (Potential).				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			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AATCTGGATTTAAGATTGCAG	0.433													G	135099202	T	G	135099202	3	3	269	1	0	0	0	0	1	0	0	0	9548	1751	61	5	875	5	MGAT5	2	135099202	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3077361	135099202	108100171	161	132809											
MCM6	4175	broad.mit.edu	37	chr2	136623713	136623713	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgactgacccttgggttggTtggcgcaacacagcaggcaa	13	11	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:136623713T>G	uc002tuw.2	-	6	992	c.916A>C	c.(916-918)ACC>CCC	p.T306P		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	306					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				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTGGGTTGGTTGGCGCAACA	0.343													G	136623713	T	G	136623713	3	3	269	1	0	0	0	0	1	0	0	0	9391	1725	60	5	1597	5	MCM6	2	136623713	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1524511	136623713	106575660	162	132810											
KIF5C	3800	broad.mit.edu	37	chr2	149847707	149847707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgccagctgctcatcTcccaggtgggcccttccctt	9	18	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:149847707T>C	uc010zbu.1	+	16	2268	c.1900T>C	c.(1900-1902)TCC>CCC	p.S634P	KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.S186P	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	634					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTGCTCATCTCCCAGGTGGG	0.592													C	149847707	T	C	149847707	3	2	269	1	0	0	0	0	1	0	0	0	8307	1551	54	3	1884	3	KIF5C	2	149847707	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	13223994	149847707	93351666	163	132811											
KCNJ3	3760	broad.mit.edu	37	chr2	155711631	155711631	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagacttgcccatgaaacttCaacgaataagttcagttccg	8	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:155711631C>T	uc002tyv.1	+	3	1507	c.1312C>T	c.(1312-1314)CAA>TAA	p.Q438*	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	438	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CATGAAACTTCAACGAATAAG	0.423													T	155711631	C	T	155711631	4	4	269	1	0	0	0	0	0	1	0	0	8052	827	29	4	1322	4	KCNJ3	2	155711631	Nonsense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	5863924	155711631	87487742	164	132812											
LY75	4065	broad.mit.edu	37	chr2	160667104	160667104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcagacttgtaacagtgAcccttgtactggatccaccg	9	11	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:160667104A>G	uc002ubc.3	-	32	4701	c.4632T>C	c.(4630-4632)GGT>GGC	p.G1544G	LY75_uc002ubb.3_Silent_p.G1544G|LY75_uc010fos.2_Silent_p.G1544G	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1544	Extracellular (Potential).|C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		TGTAACAGTGACCCTTGTACT	0.353													G	160667104	A	G	160667104	2	3	269	1	0	0	0	0	0	0	0	1	9099	262	10	3		3	LY75	2	160667104	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4955473	160667104	82532269	165	132813											
PLA2R1	22925	broad.mit.edu	37	chr2	160876695	160876695	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtgccaattagtaaagatGactgaagagtcattagacca	10	6	1	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:160876695G>A	uc002ube.1	-	8	1581	c.1374C>T	c.(1372-1374)GTC>GTT	p.V458V	PLA2R1_uc010zcp.1_Silent_p.V458V|PLA2R1_uc002ubf.2_Silent_p.V458V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	458	Extracellular (Potential).|C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						TAGTAAAGATGACTGAAGAGT	0.358													A	160876695	G	A	160876695	2	1	269	1	0	0	0	0	0	0	0	1	12010	1277	45	4		4	PLA2R1	2	160876695	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	209591	160876695	82322678	166	132814											
SLC4A10	57282	broad.mit.edu	37	chr2	162627547	162627547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattctcaaaacacactttgAgaaagaagatttagaaggta	7	5	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:162627547A>G	uc002ubx.3	+	2	297	c.113A>G	c.(112-114)GAG>GGG	p.E38G	SLC4A10_uc010fpa.1_Missense_Mutation_p.E50G|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.E38G|SLC4A10_uc010zcs.1_Missense_Mutation_p.E49G	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	38	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ACACACTTTGAGAAAGAAGAT	0.343													G	162627547	A	G	162627547	3	3	269	1	0	0	0	0	1	0	0	0	14651	304	11	3	204	3	SLC4A10	2	162627547	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1750852	162627547	80571826	167	132815											
SCN9A	6335	broad.mit.edu	37	chr2	167162347	167162347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagttccacgggtcacgaAgaaaagtgaattctcctaca	9	11	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:167162347A>C	uc010fpl.2	-	5	892	c.551T>G	c.(550-552)CTT>CGT	p.L184R	SCN9A_uc002udr.1_Missense_Mutation_p.L55R|SCN9A_uc002uds.1_Missense_Mutation_p.L55R|SCN9A_uc002udt.1_Missense_Mutation_p.L55R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	184	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CGGGTCACGAAGAAAAGTGAA	0.378													C	167162347	A	C	167162347	3	2	269	1	0	0	0	0	1	0	0	0	13925	72	3	5	5474	5	SCN9A	2	167162347	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4534800	167162347	76037026	168	132816											
LRP2	4036	broad.mit.edu	37	chr2	170096101	170096101	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacacgagcaccggaaAgaacctctcatattgtaaca	7	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:170096101A>C	uc002ues.2	-	26	4443	c.4230T>G	c.(4228-4230)TCT>TCG	p.S1410S		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1410	EGF-like 6; calcium-binding (Potential).|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	AGCACCGGAAAGAACCTCTCA	0.428													C	170096101	A	C	170096101	2	2	269	1	0	0	0	0	0	0	0	1	8956	59	3	5		5	LRP2	2	170096101	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2933754	170096101	73103272	169	132817											
OSBPL6	114880	broad.mit.edu	37	chr2	179214014	179214014	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaccccaacctttgtgcaGatattgaatttcagactccc	5	14	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179214014G>A	uc002ulx.2	+	12	1429	c.1051G>A	c.(1051-1053)GAT>AAT	p.D351N	OSBPL6_uc002ulw.2_Missense_Mutation_p.D320N|OSBPL6_uc002uly.2_Missense_Mutation_p.D376N|OSBPL6_uc010zfe.1_Missense_Mutation_p.D320N|OSBPL6_uc002ulz.2_Missense_Mutation_p.D351N|OSBPL6_uc002uma.2_Missense_Mutation_p.D355N	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	351					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTTTGTGCAGATATTGAATT	0.433													A	179214014	G	A	179214014	3	1	269	1	0	0	0	0	1	0	0	0	11281	942	33	4	1211	4	OSBPL6	2	179214014	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	9117913	179214014	63985359	170	132818											
TTN	7273	broad.mit.edu	37	chr2	179418814	179418814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaccatcctaggctcttcTtgtctcgtttttcaaggaaa	6	10	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179418814T>C	uc010zfg.1	-	282	81544	c.81320A>G	c.(81319-81321)AAG>AGG	p.K27107R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20802R|TTN_uc010zfi.1_Missense_Mutation_p.K20735R|TTN_uc010zfj.1_Missense_Mutation_p.K20610R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28034							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGCTCTTCTTGTCTCGTTT	0.403													C	179418814	T	C	179418814	3	2	269	1	0	0	0	0	1	0	0	0	16732	1609	56	3	19075	3	TTN	2	179418814	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	204800	179418814	63780559	171	132819											
TTN	7273	broad.mit.edu	37	chr2	179442423	179442423	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaattctgaattcatatttTccaccctcaacaaggtcagt	4	11	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179442423T>C	uc010zfg.1	-	272	61250	c.61026A>G	c.(61024-61026)GGA>GGG	p.G20342G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G14037G|TTN_uc010zfi.1_Silent_p.G13970G|TTN_uc010zfj.1_Silent_p.G13845G|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21269							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCATATTTTCCACCCTCAA	0.413													C	179442423	T	C	179442423	2	2	269	1	0	0	0	0	0	0	0	1	16732	1770	62	3		3	TTN	2	179442423	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	23609	179442423	63756950	172	132820											
TTN	7273	broad.mit.edu	37	chr2	179444488	179444488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaataatccgacttccaCcatcactgtgaggctttttc	5	13	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179444488C>T	uc010zfg.1	-	268	59956	c.59732G>A	c.(59731-59733)GGT>GAT	p.G19911D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G13606D|TTN_uc010zfi.1_Missense_Mutation_p.G13539D|TTN_uc010zfj.1_Missense_Mutation_p.G13414D|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20838							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGACTTCCACCATCACTGTG	0.418													T	179444488	C	T	179444488	3	4	269	1	0	0	0	0	1	0	0	0	16732	507	18	4	40719	4	TTN	2	179444488	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2065	179444488	63754885	173	132821											
TTN	7273	broad.mit.edu	37	chr2	179586740	179586740	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacggatctccttgttatcTtttgaccaagtgattcgcat	9	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179586740T>C	uc010zfg.1	-	75	19142	c.18918A>G	c.(18916-18918)AAA>AAG	p.K6306K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2967K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7233							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGTTATCTTTTGACCAAG	0.418													C	179586740	T	C	179586740	2	2	269	1	0	0	0	0	0	0	0	1	16732	1606	56	3		3	TTN	2	179586740	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	142252	179586740	63612633	174	132822											
TTN	7273	broad.mit.edu	37	chr2	179604861	179604861	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacctcctgcactttctTtattgccacgggctctcttt	6	14	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179604861T>G	uc010zfh.1	-	46	12810	c.12586A>C	c.(12586-12588)AAG>CAG	p.K4196Q	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4129Q|TTN_uc010zfj.1_Missense_Mutation_p.K4004Q|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTTTCTTTATTGCCACG	0.438													G	179604861	T	G	179604861	3	3	269	1	0	0	0	0	1	0	0	0	16732	1850	64	5	91690	5	TTN	2	179604861	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	18121	179604861	63594512	175	132823											
TTN	7273	broad.mit.edu	37	chr2	179605054	179605054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcactttctatcaaaatTttacctccttctgtgcatga	4	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179605054T>G	uc010zfh.1	-	46	12617	c.12393A>C	c.(12391-12393)AAA>AAC	p.K4131N	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4064N|TTN_uc010zfj.1_Missense_Mutation_p.K3939N|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCAAAATTTTACCTCCTT	0.458													G	179605054	T	G	179605054	3	3	269	1	0	0	0	0	1	0	0	0	16732	1838	64	5	91883	5	TTN	2	179605054	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	193	179605054	63594319	176	132824											
TTN	7273	broad.mit.edu	37	chr2	179647069	179647069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccactggttttgtaataaAgtaaggcgcggcaggttctc	12	8	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:179647069A>G	uc010zfg.1	-	20	3474	c.3250T>C	c.(3250-3252)TTT>CTT	p.F1084L	TTN_uc010zfh.1_Missense_Mutation_p.F1038L|TTN_uc010zfi.1_Missense_Mutation_p.F1038L|TTN_uc010zfj.1_Missense_Mutation_p.F1038L|TTN_uc002unb.2_Missense_Mutation_p.F1084L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1084							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTAATAAAGTAAGGCGCG	0.493													G	179647069	A	G	179647069	3	3	269	1	0	0	0	0	1	0	0	0	16732	72	3	3	108110	3	TTN	2	179647069	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	42015	179647069	63552304	177	132825											
FAM171B	165215	broad.mit.edu	37	chr2	187627276	187627276	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catgcatcagcccaagatccTttacttagaagatttagacc	6	11	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:187627276T>A	uc002ups.2	+	8	2319	c.2207T>A	c.(2206-2208)CTT>CAT	p.L736H	FAM171B_uc002upr.1_Missense_Mutation_p.L703H|FAM171B_uc002upt.2_Missense_Mutation_p.L205H	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	736	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						CCCAAGATCCTTTACTTAGAA	0.488													A	187627276	T	A	187627276	3	1	269	1	0	0	0	0	1	0	0	0	5491	1609	56	5	2237	5	FAM171B	2	187627276	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7980207	187627276	55572097	178	132826											
DNAH7	56171	broad.mit.edu	37	chr2	196774826	196774826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acacattgtttggctacagcTtttgccaaatccttggtagt	8	9	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:196774826T>G	uc002utj.3	-	25	4130	c.4029A>C	c.(4027-4029)AAA>AAC	p.K1343N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1343	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGGCTACAGCTTTTGCCAAAT	0.428													G	196774826	T	G	196774826	3	3	269	1	0	0	0	0	1	0	0	0	4606	1606	56	5	8209	5	DNAH7	2	196774826	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	9147550	196774826	46424547	179	132827											
RFTN2	130132	broad.mit.edu	37	chr2	198498574	198498574	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacgtcccttcattccaacTtctacagttttcatctgaac	3	13	4	1	rs138508855		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:198498574T>G	uc002uuo.3	-	4	988	c.586A>C	c.(586-588)AGT>CGT	p.S196R		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	196						plasma membrane					0						TCATTCCAACTTCTACAGTTT	0.408													G	198498574	T	G	198498574	3	3	269	1	0	0	0	0	1	0	0	0	13259	1609	56	5	943	5	RFTN2	2	198498574	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1723748	198498574	44700799	180	132828											
ZDBF2	57683	broad.mit.edu	37	chr2	207175077	207175077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgccagacagcgaaaaTcagccatagtactcagacca	7	12	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:207175077T>G	uc002vbp.2	+	5	6075	c.5825T>G	c.(5824-5826)ATC>AGC	p.I1942S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1942							nucleic acid binding|zinc ion binding			ovary(3)	3						ACAGCGAAAATCAGCCATAGT	0.443													G	207175077	T	G	207175077	3	3	269	1	0	0	0	0	1	0	0	0	17596	1435	50	5	5835	5	ZDBF2	2	207175077	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8676503	207175077	36024296	181	132829											
LOC200726	200726	broad.mit.edu	37	chr2	207508994	207508994	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagaggagggatccacCgccccttgagcttcacctgc	12	14	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:207508994C>G	uc010fuh.1	+	2	209	c.34C>G	c.(34-36)CGC>GGC	p.R12G		NM_001102659	NP_001096129			hypothetical protein LOC200726												0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		AGGGATCCACCGCCCCTTGAG	0.522													G	207508994	C	G	207508994	3	3	269	1	0	0	0	0	1	0	0	0	8872	652	23	5	36	5	LOC200726	2	207508994	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	333917	207508994	35690379	182	132830											
MAP2	4133	broad.mit.edu	37	chr2	210558124	210558124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggggaaagttttagaggaAgaaaaggaggccataaatca	13	3	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:210558124A>C	uc002vde.1	+	7	1478	c.1230A>C	c.(1228-1230)GAA>GAC	p.E410D	MAP2_uc002vdc.1_Missense_Mutation_p.E410D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E406D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	410					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	TTTTAGAGGAAGAAAAGGAGG	0.448													C	210558124	A	C	210558124	3	2	269	1	0	0	0	0	1	0	0	0	9235	69	3	5	1244	5	MAP2	2	210558124	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3049130	210558124	32641249	183	132831											
MAP2	4133	broad.mit.edu	37	chr2	210559603	210559603	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgaaggcactgatgataaAgttcgaagagatttggccac	11	7	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:210559603A>C	uc002vde.1	+	7	2957	c.2709A>C	c.(2707-2709)AAA>AAC	p.K903N	MAP2_uc002vdc.1_Missense_Mutation_p.K903N|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K899N	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	903					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CTGATGATAAAGTTCGAAGAG	0.448													C	210559603	A	C	210559603	3	2	269	1	0	0	0	0	1	0	0	0	9235	69	3	5	2723	5	MAP2	2	210559603	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1479	210559603	32639770	184	132832											
ACADL	33	broad.mit.edu	37	chr2	211081208	211081208	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacctgaatgaatactaaaAcctgggcctgaacaatttga	7	8	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:211081208A>C	uc002vdz.3	-	4	627	c.399T>G	c.(397-399)GGT>GGG	p.G133G		NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	133					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				0		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)		GAATACTAAAACCTGGGCCTG	0.323													C	211081208	A	C	211081208	2	2	269	1	0	0	0	0	0	0	0	1	112	30	2	5		5	ACADL	2	211081208	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	521605	211081208	32118165	185	132833											
CPS1	1373	broad.mit.edu	37	chr2	211469879	211469879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagtgacaggttggaaAgaaatagaatatgaagtggt	13	2	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:211469879A>C	uc002vee.3	+	17	2022	c.1890A>C	c.(1888-1890)AAA>AAC	p.K630N	CPS1_uc010fur.2_Missense_Mutation_p.K636N|CPS1_uc010fus.2_Missense_Mutation_p.K179N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	630	ATP-grasp 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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGGTTGGAAAGAAATAGAAT	0.408													C	211469879	A	C	211469879	3	2	269	1	0	0	0	0	1	0	0	0	3823	69	3	5	1978	5	CPS1	2	211469879	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	388671	211469879	31729494	186	132834											
CXCR1	3577	broad.mit.edu	37	chr2	219028947	219028947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacacgatgacgtgccaagaActccttgctgaccaggccat	9	13	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:219028947A>C	uc002vhc.2	-	2	1107	c.988T>G	c.(988-990)TTC>GTC	p.F330V		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	330	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						CGTGCCAAGAACTCCTTGCTG	0.488													C	219028947	A	C	219028947	3	2	269	1	0	0	0	0	1	0	0	0	4090	43	2	5	68	5	CXCR1	2	219028947	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7559068	219028947	24170426	187	132835											
PRKAG3	53632	broad.mit.edu	37	chr2	219692328	219692328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagatggagaccagaggcTtgaagcagccttgcaggtag	16	7	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:219692328T>C	uc002vjb.1	-	8	864	c.845A>G	c.(844-846)AAG>AGG	p.K282R	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.S324G	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	282	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCAGAGGCTTGAAGCAGCC	0.592													C	219692328	T	C	219692328	3	2	269	1	0	0	0	0	1	0	0	0	12502	1609	56	3	648	3	PRKAG3	2	219692328	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	663381	219692328	23507045	188	132836											
IHH	3549	broad.mit.edu	37	chr2	219920314	219920314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgggctgccggctccGtgtgattgtcagccgtaaag	16	10	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:219920314G>A	uc002vjo.1	-	3	851	c.851C>T	c.(850-852)ACG>ATG	p.T284M		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	284					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		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)		TGCCGGCTCCGTGTGATTGTC	0.677													A	219920314	G	A	219920314	3	1	269	1	0	0	0	0	1	0	0	0	7607	1145	40	1	388	1	IHH	2	219920314	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	227986	219920314	23279059	189	132837											
SLC23A3	151295	broad.mit.edu	37	chr2	220034257	220034257	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctgctgcccatccaAgtttgcaggatggtagacat	9	12	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:220034257A>G	uc010zks.1	-	2	417	c.306T>C	c.(304-306)ACT>ACC	p.T102T	NHEJ1_uc002vjq.3_Intron|SLC23A3_uc010zkr.1_Silent_p.T102T|SLC23A3_uc010fwb.2_Silent_p.T102T|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	102	Helical; (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		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)		TGCCCATCCAAGTTTGCAGGA	0.577													G	220034257	A	G	220034257	2	3	269	1	0	0	0	0	0	0	0	1	14464	59	3	3		3	SLC23A3	2	220034257	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	113943	220034257	23165116	190	132838											
SLC4A3	6508	broad.mit.edu	37	chr2	220505320	220505320	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagccctatgtgaccaAggtagggccgggaagcatgg	16	9	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:220505320A>C	uc002vmp.3	+	21	3715	c.3446A>C	c.(3445-3447)AAG>ACG	p.K1149T	SLC4A3_uc002vmo.3_Missense_Mutation_p.K1176T|SLC4A3_uc010fwm.2_Missense_Mutation_p.K699T	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1149	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		TATGTGACCAAGGTAGGGCCG	0.572													C	220505320	A	C	220505320	3	2	269	1	0	0	0	0	1	0	0	0	14655	86	3	5	3605	5	SLC4A3	2	220505320	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	471063	220505320	22694053	191	132839											
COL4A4	1286	broad.mit.edu	37	chr2	227875129	227875129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggtgggctcctggtcCgtctgactgtggagaaccag	17	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:227875129C>T	uc010zlt.1	-	45	5076	c.4422G>A	c.(4420-4422)ACG>ACA	p.T1474T		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1474	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		GCTCCTGGTCCGTCTGACTGT	0.592													T	227875129	C	T	227875129	2	4	269	1	0	0	0	0	0	0	0	1	3693	639	23	1		1	COL4A4	2	227875129	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	7369809	227875129	15324244	192	132840											
AGFG1	3267	broad.mit.edu	37	chr2	228416701	228416701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttggcactgcatccatgAgcatgcccacaggattcggc	10	14	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:228416701A>G	uc002vpc.2	+	11	1655	c.1405A>G	c.(1405-1407)AGC>GGC	p.S469G	AGFG1_uc002vpd.2_Missense_Mutation_p.S493G|AGFG1_uc002vpe.2_Missense_Mutation_p.S469G|AGFG1_uc002vpf.2_Missense_Mutation_p.S429G	NM_004504	NP_004495	P52594	AGFG1_HUMAN	HIV-1 Rev binding protein isoform 2	469					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TGCATCCATGAGCATGCCCAC	0.498													G	228416701	A	G	228416701	3	3	269	1	0	0	0	0	1	0	0	0	380	304	11	3	1523	3	AGFG1	2	228416701	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	541572	228416701	14782672	193	132841											
SPHKAP	80309	broad.mit.edu	37	chr2	228882528	228882528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgttcatcagcttttcTttaagctcagggtgctcgtc	8	12	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:228882528T>G	uc002vpq.2	-	7	3089	c.3042A>C	c.(3040-3042)AAA>AAC	p.K1014N	SPHKAP_uc002vpp.2_Missense_Mutation_p.K1014N|SPHKAP_uc010zlx.1_Missense_Mutation_p.K1014N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1014						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		TCAGCTTTTCTTTAAGCTCAG	0.512													G	228882528	T	G	228882528	3	3	269	1	0	0	0	0	1	0	0	0	15047	1606	56	5	2084	5	SPHKAP	2	228882528	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	465827	228882528	14316845	194	132842											
SPHKAP	80309	broad.mit.edu	37	chr2	228884060	228884060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagttccaatcacagtggCtgcacaagctaacgccactt	7	12	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr2:228884060C>T	uc002vpq.2	-	7	1557	c.1510G>A	c.(1510-1512)GCC>ACC	p.A504T	SPHKAP_uc002vpp.2_Missense_Mutation_p.A504T|SPHKAP_uc010zlx.1_Missense_Mutation_p.A504T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	504						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		ATCACAGTGGCTGCACAAGCT	0.522													T	228884060	C	T	228884060	3	4	269	1	0	0	0	0	1	0	0	0	15047	797	28	2	3616	2	SPHKAP	2	228884060	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	1532	228884060	14315313	195	132843											
CPNE9	151835	broad.mit.edu	37	chr3	9767687	9767687	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgttctgctcatcatcacTgatggggtcatctctgacat	8	10	6	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:9767687T>C	uc003bsd.2	+	17	1467	c.1296T>C	c.(1294-1296)ACT>ACC	p.T432T		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	432	VWFA.									ovary(2)	2	Medulloblastoma(99;0.227)					TCATCATCACTGATGGGGTCA	0.428													C	9767687	T	C	9767687	2	2	269	1	0	0	0	0	0	0	0	1	3819	1567	55	3		3	CPNE9	3	9767687	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		9767687	188254743	196	132844											
TMEM111	55831	broad.mit.edu	37	chr3	10012268	10012268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgacatgcttcttaccaTtatcttggcccagaatcaga	6	12	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:10012268T>G	uc003bun.2	-	6	751	c.572A>C	c.(571-573)AAT>ACT	p.N191T	CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.N191T	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	191						integral to membrane					0						CTTCTTACCATTATCTTGGCC	0.408													G	10012268	T	G	10012268	3	3	269	1	0	0	0	0	1	0	0	0	16025	1493	52	5	225	5	TMEM111	3	10012268	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	244581	10012268	188010162	197	132845											
C3orf31	132001	broad.mit.edu	37	chr3	11885576	11885576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggatggacgtgataatcTtgggccctaaaacttttagg	11	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:11885576T>C	uc003bwh.2	-	2	487	c.245A>G	c.(244-246)AAG>AGG	p.K82R	C3orf31_uc003bwj.2_Missense_Mutation_p.K82R|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.K82R|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	82					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						CGTGATAATCTTGGGCCCTAA	0.418													C	11885576	T	C	11885576	3	2	269	1	0	0	0	0	1	0	0	0	2221	1609	56	3	729	3	C3orf31	3	11885576	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1873308	11885576	186136854	198	132846											
TMEM43	79188	broad.mit.edu	37	chr3	14172352	14172352	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaagacggcaacctcattgGctgaggggctctcgcttgtg	14	10	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:14172352G>C	uc003byk.2	+	3	447	c.193G>C	c.(193-195)GCT>CCT	p.A65P	TMEM43_uc003byl.1_5'UTR	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	65	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						AACCTCATTGGCTGAGGGGCT	0.577													C	14172352	G	C	14172352	3	2	269	1	0	0	0	0	1	0	0	0	16164	1203	42	5	203	5	TMEM43	3	14172352	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2286776	14172352	183850078	199	132847											
FGD5	152273	broad.mit.edu	37	chr3	14862660	14862660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccttccaggattctggaAgttgaccggagaagcctcag	14	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:14862660A>G	uc003bzc.2	+	1	2192	c.2082A>G	c.(2080-2082)GAA>GAG	p.E694E	FGD5_uc011avk.1_Silent_p.E694E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	694					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			ovary(3)|kidney(1)|pancreas(1)	5						GGATTCTGGAAGTTGACCGGA	0.517													G	14862660	A	G	14862660	2	3	269	1	0	0	0	0	0	0	0	1	5836	69	3	3		3	FGD5	3	14862660	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	690308	14862660	183159770	200	132848											
HACL1	26061	broad.mit.edu	37	chr3	15604933	15604933	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtttagttgtgtctgctaGgctctgcctcagggattttt	12	7	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:15604933G>C	uc003caf.2	-	16	1796	c.1636C>G	c.(1636-1638)CTA>GTA	p.L546V	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.L519V|HACL1_uc011avt.1_Missense_Mutation_p.L486V|HACL1_uc003cag.2_Missense_Mutation_p.L190V|HACL1_uc011avu.1_Missense_Mutation_p.L464V|HACL1_uc010hep.2_Missense_Mutation_p.L305V	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	546					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						GTGTCTGCTAGGCTCTGCCTC	0.438													C	15604933	G	C	15604933	3	2	269	1	0	0	0	0	1	0	0	0	6941	991	35	5	108	5	HACL1	3	15604933	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	742273	15604933	182417497	201	132849											
SGOL1	151648	broad.mit.edu	37	chr3	20212717	20212718	+	Frame_Shift_Ins	INS	-	-	T													gtgactgctgagtttcaggtINSggtgtagctacaaaacaatt							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:20212716_20212717G>GT	uc003cbu.3	-	6	1445_1446	c.1290_1291C>AC	c.(1288-1293)ccacctfs	p.P430fs	SGOL1_uc003cbw.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc003cbv.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc003cbt.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Frame_Shift_Ins_p.P430fs|SGOL1_uc003cbr.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc003ccc.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc021wtx.1_Frame_Shift_Ins_p.P57fs|SGOL1_uc021wty.1_Frame_Shift_Ins_p.P40fs|SGOL1_uc003ccb.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc003cca.3_Frame_Shift_Ins_p.P430fs|SGOL1_uc003cby.3_Frame_Shift_Ins_p.P161fs|SGOL1_uc003cbx.3_Frame_Shift_Ins_p.P178fs|SGOL1_uc003cbz.3_Frame_Shift_Ins_p.P430fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	430					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGAGTTTCAGGTGGTGTAGCTA	0.327													T	20212718	-	T	20212717	7	5	269	1	0	1	1	0	0	0	0	0	14216	1683	59	0	427	0	SGOL1	3	20212717	Frame_Shift_Ins	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	4607784	20212717	177809713	202	132850											
THRB	7068	broad.mit.edu	37	chr3	24164390	24164390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtctaatcctcgaacacTtccaagaacaaaggggggaa	9	10	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:24164390T>G	uc003ccx.3	-	11	1720	c.1371A>C	c.(1369-1371)GAA>GAC	p.E457D	THRB_uc010hfe.2_Missense_Mutation_p.E457D|THRB_uc003ccy.3_Missense_Mutation_p.E457D|THRB_uc003ccz.3_Missense_Mutation_p.E452D	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	457	Ligand-binding.|Interaction with NR2F6.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCTCGAACACTTCCAAGAACA	0.473													G	24164390	T	G	24164390	3	3	269	1	0	0	0	0	1	0	0	0	15872	1606	56	5	18	5	THRB	3	24164390	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3951673	24164390	173858040	203	132851											
TRIM71	131405	broad.mit.edu	37	chr3	32860324	32860324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggtgccgcagcagcggCgcagcagctcgggctcgggc	17	16	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:32860324C>T	uc003cff.2	+	1	815	c.752C>T	c.(751-753)GCG>GTG	p.A251V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	251					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCAGCAGCGGCGCAGCAGCTC	0.716													T	32860324	C	T	32860324	3	4	269	1	0	0	0	0	1	0	0	0	16541	768	27	1	754	1	TRIM71	3	32860324	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	8695934	32860324	165162106	204	132852											
ACVR2B	93	broad.mit.edu	37	chr3	38519713	38519713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcgggggcctttcccTcatcgtcctgctggcctttt	10	16	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:38519713T>C	uc003cif.2	+	4	476	c.452T>C	c.(451-453)CTC>CCC	p.L151P	ACVR2B_uc003cig.2_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	151	Helical; (Potential).				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)		GGCCTTTCCCTCATCGTCCTG	0.647													C	38519713	T	C	38519713	3	2	269	1	0	0	0	0	1	0	0	0	224	1551	54	3	466	3	ACVR2B	3	38519713	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5659389	38519713	159502717	205	132853											
HHATL	57467	broad.mit.edu	37	chr3	42742227	42742227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaccttgtgaagcctcaAggaggccccggccagcatag	11	13	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:42742227A>G	uc003clw.2	-	3	239	c.92T>C	c.(91-93)CTT>CCT	p.L31P	HHATL_uc003clx.2_Missense_Mutation_p.L31P	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	31	Helical; (Potential).				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGAAGCCTCAAGGAGGCCCCG	0.627													G	42742227	A	G	42742227	3	3	269	1	0	0	0	0	1	0	0	0	7090	72	3	3	1466	3	HHATL	3	42742227	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4222514	42742227	155280203	206	132854											
CCR1	1230	broad.mit.edu	37	chr3	46245656	46245656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaccaggatgtttccaAccaggccaatgacaaatacc	8	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:46245656A>G	uc003cph.1	-	2	220	c.149T>C	c.(148-150)GTT>GCT	p.V50A	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	50	Helical; Name=1; (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GATGTTTCCAACCAGGCCAAT	0.532													G	46245656	A	G	46245656	3	3	269	1	0	0	0	0	1	0	0	0	2939	43	2	3	922	3	CCR1	3	46245656	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3503429	46245656	151776774	207	132855											
DHX30	22907	broad.mit.edu	37	chr3	47868925	47868925	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcatctcacatgcaaaAgacaaactagtctacgtgca	7	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:47868925A>C	uc003cru.2	+	5	639	c.213A>C	c.(211-213)AAA>AAC	p.K71N	DHX30_uc003crs.2_Missense_Mutation_p.K32N|DHX30_uc003crt.2_Missense_Mutation_p.K32N|DHX30_uc010hjr.1_Missense_Mutation_p.K99N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	71	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACATGCAAAAGACAAACTAG	0.428													C	47868925	A	C	47868925	3	2	269	1	0	0	0	0	1	0	0	0	4504	69	3	5	234	5	DHX30	3	47868925	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1623269	47868925	150153505	208	132856											
MAP4	4134	broad.mit.edu	37	chr3	47957952	47957952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcaagatcacgttggtTtccgggggcagtgtcatgtc	14	8	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:47957952T>G	uc003csb.2	-	7	1891	c.1365A>C	c.(1363-1365)GAA>GAC	p.E455D	MAP4_uc003csc.3_Missense_Mutation_p.E455D|MAP4_uc011bbf.1_Missense_Mutation_p.E432D|MAP4_uc003csf.3_Missense_Mutation_p.E472D	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	455	12.|17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCACGTTGGTTTCCGGGGGCA	0.507													G	47957952	T	G	47957952	3	3	269	1	0	0	0	0	1	0	0	0	9258	1838	64	5	3504	5	MAP4	3	47957952	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	89027	47957952	150064478	209	132857											
APEH	327	broad.mit.edu	37	chr3	49719161	49719161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctccctgcagctggccTtgactttgaagcaatcctgc	8	16	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:49719161T>C	uc003cxf.2	+	16	1845	c.1445T>C	c.(1444-1446)CTT>CCT	p.L482P	APEH_uc010hkw.1_Missense_Mutation_p.L482P	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	482					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCTGGCCTTGACTTTGAA	0.617													C	49719161	T	C	49719161	3	2	269	1	0	0	0	0	1	0	0	0	768	1609	56	3	1507	3	APEH	3	49719161	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1761209	49719161	148303269	210	132858											
PXK	54899	broad.mit.edu	37	chr3	58381485	58381485	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatggacggcaaatattagAggtaagaggtacttttgttt	11	3	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:58381485A>C	uc003djz.1	+	9	920	c.821A>C	c.(820-822)GAG>GCG	p.E274A	PXK_uc003djx.1_Missense_Mutation_p.E274A|PXK_uc003djy.1_Missense_Mutation_p.E257A|PXK_uc003dka.1_Missense_Mutation_p.E274A|PXK_uc003dkb.1_Missense_Mutation_p.E191A|PXK_uc003dkc.1_Missense_Mutation_p.E257A|PXK_uc011bfe.1_Missense_Mutation_p.E241A|PXK_uc010hnj.1_Missense_Mutation_p.E241A|PXK_uc003dkd.1_Missense_Mutation_p.E137A|PXK_uc010hnk.1_Missense_Mutation_p.E48A	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	274	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|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)		CAAATATTAGAGGTAAGAGGT	0.348													C	58381485	A	C	58381485	3	2	269	1	0	0	0	0	1	0	0	0	12849	318	11	5	855	5	PXK	3	58381485	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8662324	58381485	139640945	211	132859											
FAM107A	11170	broad.mit.edu	37	chr3	58555474	58555474	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtgactccgagaggccttCacggggttcagcagcttctt	13	11	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:58555474C>T	uc003dkm.2	-	3	673	c.114G>A	c.(112-114)GTG>GTA	p.V38V	FAM107A_uc003dko.2_Silent_p.V69V|FAM107A_uc003dkn.2_Silent_p.V38V|FAM107A_uc010hnm.2_Silent_p.V66V|FAM107A_uc003dkp.1_Silent_p.V38V	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	38					regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GAGAGGCCTTCACGGGGTTCA	0.632													T	58555474	C	T	58555474	2	4	269	1	0	0	0	0	0	0	0	1	5389	813	29	4		4	FAM107A	3	58555474	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	173989	58555474	139466956	212	132860											
CNTN3	5067	broad.mit.edu	37	chr3	74383939	74383939	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttaaaatctgcaagggcccCattgaaataccaggtaaaga	8	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:74383939C>A	uc003dpm.1	-	12	1695	c.1615G>T	c.(1615-1617)GGG>TGG	p.G539W		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	539	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		GCAAGGGCCCCATTGAAATAC	0.353													A	74383939	C	A	74383939	3	1	269	1	0	0	0	0	1	0	0	0	3642	594	21	5	1515	5	CNTN3	3	74383939	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	15828465	74383939	123638491	213	132861											
CNTN3	5067	broad.mit.edu	37	chr3	74385746	74385746	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgccatgcaggtgtaAgttccagcatcagctttagt	9	9	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:74385746A>C	uc003dpm.1	-	11	1508	c.1428T>G	c.(1426-1428)ACT>ACG	p.T476T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	476	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		TGCAGGTGTAAGTTCCAGCAT	0.353													C	74385746	A	C	74385746	2	2	269	1	0	0	0	0	0	0	0	1	3642	59	3	5		5	CNTN3	3	74385746	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1807	74385746	123636684	214	132862											
ROBO1	6091	broad.mit.edu	37	chr3	78988071	78988071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatcttcctgacgaagaCgggagcctgcagaagaattc	11	9	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:78988071C>A	uc003dqe.2	-	4	387	c.179G>T	c.(178-180)CGT>CTT	p.R60L	ROBO1_uc003dqb.2_Missense_Mutation_p.R21L|ROBO1_uc003dqc.2_Missense_Mutation_p.R21L|ROBO1_uc003dqd.2_Missense_Mutation_p.R21L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	60	Extracellular (Potential).				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			large_intestine(2)	2		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)		CTGACGAAGACGGGAGCCTGC	0.393													A	78988071	C	A	78988071	3	1	269	1	0	0	0	0	1	0	0	0	13513	536	19	5	4901	5	ROBO1	3	78988071	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	4602325	78988071	119034359	215	132863											
OR5H15	403274	broad.mit.edu	37	chr3	97887578	97887578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacattgctgacagagtTtgttctcacaggatttttat	8	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:97887578T>G	uc011bgu.1	+	1	35	c.35T>G	c.(34-36)TTT>TGT	p.F12C		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTGACAGAGTTTGTTCTCACA	0.383													G	97887578	T	G	97887578	3	3	269	1	0	0	0	0	1	0	0	0	11161	1841	64	5	37	5	OR5H15	3	97887578	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	18899507	97887578	100134852	216	132864											
BBX	56987	broad.mit.edu	37	chr3	107491762	107491762	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attagaaaggaagagttagaAgaagatcacaaatgtagtca	10	3	2	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:107491762A>C	uc010hpr.2	+	11	1521	c.1194A>C	c.(1192-1194)GAA>GAC	p.E398D	BBX_uc003dwk.3_Missense_Mutation_p.E398D|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E419D|BBX_uc003dwm.3_Missense_Mutation_p.E398D|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAGTTAGAAGAAGATCACA	0.333													C	107491762	A	C	107491762	3	2	269	1	0	0	0	0	1	0	0	0	1343	69	3	5	1224	5	BBX	3	107491762	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	9604184	107491762	90530668	217	132865											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134116	119134116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaacttggaccctgccattCccattgctgacctcttctgg	7	15	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:119134116C>T	uc003ecj.3	+	12	3872	c.3340C>T	c.(3340-3342)CCC>TCC	p.P1114S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1114					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CCCTGCCATTCCCATTGCTGA	0.532													T	119134116	C	T	119134116	3	4	269	1	0	0	0	0	1	0	0	0	880	855	30	4	3386	4	ARHGAP31	3	119134116	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	11642354	119134116	78888314	218	132866											
DTX3L	151636	broad.mit.edu	37	chr3	122288550	122288550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgatgattccaaagcagcTtctccgccactcaagggctc	9	14	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:122288550T>C	uc003efk.2	+	3	1703	c.1614T>C	c.(1612-1614)GCT>GCC	p.A538A	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	538					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		CCAAAGCAGCTTCTCCGCCAC	0.448													C	122288550	T	C	122288550	2	2	269	1	0	0	0	0	0	0	0	1	4796	1596	56	3		3	DTX3L	3	122288550	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3154434	122288550	75733880	219	132867											
SEMA5B	54437	broad.mit.edu	37	chr3	122629068	122629068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggggcttgggtagtaAgtagtcgtgtacacattggt	15	5	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:122629068A>G	uc003efz.1	-	23	3682	c.3378T>C	c.(3376-3378)ACT>ACC	p.T1126T	SEMA5B_uc011bju.1_Silent_p.T1032T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003efy.1_Silent_p.T104T	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1126	Cytoplasmic (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TTGGGTAGTAAGTAGTCGTGT	0.547													G	122629068	A	G	122629068	2	3	269	1	0	0	0	0	0	0	0	1	14038	59	3	3		3	SEMA5B	3	122629068	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	340518	122629068	75393362	220	132868											
MYLK	4638	broad.mit.edu	37	chr3	123366187	123366187	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccggatattctctttctcTtttgctgaatatgccttgaa	7	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:123366187T>C	uc003ego.2	-	27	4785	c.4503A>G	c.(4501-4503)AAA>AAG	p.K1501K	MYLK_uc010hrr.2_Intron|MYLK_uc011bjv.1_Silent_p.K301K|MYLK_uc011bjw.1_Silent_p.K1501K|MYLK_uc003egp.2_Silent_p.K1432K|MYLK_uc003egq.2_Silent_p.K1501K|MYLK_uc003egr.2_Silent_p.K1432K|MYLK_uc003egs.2_Silent_p.K1325K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1501	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTTTCTCTTTTGCTGAAT	0.453													C	123366187	T	C	123366187	2	2	269	1	0	0	0	0	0	0	0	1	10056	1606	56	3		3	MYLK	3	123366187	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	737119	123366187	74656243	221	132869											
KALRN	8997	broad.mit.edu	37	chr3	124160832	124160832	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctgaggtgtttctcaAgtacatccacaggaacaacg	10	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:124160832A>C	uc003ehg.2	+	19	3360	c.3233A>C	c.(3232-3234)AAG>ACG	p.K1078T	KALRN_uc010hrv.1_Missense_Mutation_p.K1069T|KALRN_uc003ehf.1_Missense_Mutation_p.K1078T|KALRN_uc011bjy.1_Missense_Mutation_p.K1069T|KALRN_uc003ehh.1_Missense_Mutation_p.K424T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1078					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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTGTTTCTCAAGTACATCCAC	0.582													C	124160832	A	C	124160832	3	2	269	1	0	0	0	0	1	0	0	0	7975	72	3	5	3307	5	KALRN	3	124160832	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	794645	124160832	73861598	222	132870											
MCM2	4171	broad.mit.edu	37	chr3	127334796	127334796	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggaggggagcccaaaaaccCaggtgagcacccacctttcc	11	15	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:127334796C>G	uc003ejp.2	+	9	1577	c.1520C>G	c.(1519-1521)CCA>CGA	p.P507R	MCM2_uc011bkm.1_Missense_Mutation_p.P377R|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.P460R	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	507	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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CCCAAAAACCCAGGTGAGCAC	0.527													G	127334796	C	G	127334796	3	3	269	1	0	0	0	0	1	0	0	0	9386	594	21	5	1554	5	MCM2	3	127334796	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3173964	127334796	70687634	223	132871											
TMCC1	23023	broad.mit.edu	37	chr3	129389847	129389847	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttcttcttctcaaagacTtgcttgatgcgggcagcctg	11	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:129389847T>G	uc003emz.3	-	5	1338	c.837A>C	c.(835-837)CAA>CAC	p.Q279H	TMCC1_uc003emy.3_5'UTR|TMCC1_uc011blc.1_Missense_Mutation_p.Q100H|TMCC1_uc010htg.2_Missense_Mutation_p.Q165H	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	279	Potential.					integral to membrane				skin(1)	1						TCTCAAAGACTTGCTTGATGC	0.478													G	129389847	T	G	129389847	3	3	269	1	0	0	0	0	1	0	0	0	15989	1606	56	5	1136	5	TMCC1	3	129389847	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2055051	129389847	68632583	224	132872											
COL6A6	131873	broad.mit.edu	37	chr3	130287082	130287082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagtttcagctcaacagaTtcatgtcccaaagcgacatt	7	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:130287082T>G	uc010htl.2	+	5	2066	c.2035T>G	c.(2035-2037)TTC>GTC	p.F679V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	679	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GCTCAACAGATTCATGTCCCA	0.458													G	130287082	T	G	130287082	3	3	269	1	0	0	0	0	1	0	0	0	3703	1493	52	5	2053	5	COL6A6	3	130287082	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	897235	130287082	67735348	225	132873											
COL6A6	131873	broad.mit.edu	37	chr3	130327795	130327795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgaaggctccctgggacTtaagggccctcaggtacata	11	11	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:130327795T>C	uc010htl.2	+	21	4770	c.4739T>C	c.(4738-4740)CTT>CCT	p.L1580P	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1580	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TCCCTGGGACTTAAGGGCCCT	0.453													C	130327795	T	C	130327795	3	2	269	1	0	0	0	0	1	0	0	0	3703	1609	56	3	4821	3	COL6A6	3	130327795	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	40713	130327795	67694635	226	132874											
TF	7018	broad.mit.edu	37	chr3	133486878	133486878	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttctgcacagatgaaTttttcagtgaaggttgtgcc	10	8	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:133486878T>A	uc003epu.1	+	18	3220	c.1492T>A	c.(1492-1494)TTT>ATT	p.F498I	TF_uc011blt.1_Missense_Mutation_p.F371I|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.F498I	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	498	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			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CACAGATGAATTTTTCAGTGA	0.448													A	133486878	T	A	133486878	3	1	269	1	0	0	0	0	1	0	0	0	15782	1493	52	5	1542	5	TF	3	133486878	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3159083	133486878	64535552	227	132875											
TF	7018	broad.mit.edu	37	chr3	133486889	133486889	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatgaatttttcagtgaAggttgtgcccctgggtctaa	11	7	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:133486889A>C	uc003epu.1	+	18	3231	c.1503A>C	c.(1501-1503)GAA>GAC	p.E501D	TF_uc011blt.1_Missense_Mutation_p.E374D|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.E501D	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	501	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			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTTCAGTGAAGGTTGTGCCC	0.468													C	133486889	A	C	133486889	3	2	269	1	0	0	0	0	1	0	0	0	15782	69	3	5	1553	5	TF	3	133486889	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	11	133486889	64535541	228	132876											
DZIP1L	199221	broad.mit.edu	37	chr3	137822740	137822740	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggcgaggctgaaacTtgaaggtggggaacgtgtag	16	5	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:137822740T>G	uc003erq.2	-	2	437	c.74A>C	c.(73-75)AAG>ACG	p.K25T	DZIP1L_uc003err.1_Missense_Mutation_p.K25T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	25						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						AGGCTGAAACTTGAAGGTGGG	0.612													G	137822740	T	G	137822740	3	3	269	1	0	0	0	0	1	0	0	0	4864	1609	56	5	2298	5	DZIP1L	3	137822740	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4335851	137822740	60199690	229	132877											
TRIM42	287015	broad.mit.edu	37	chr3	140406864	140406864	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattcctgcagtcagccaAgatcctggtggaccagatcg	12	12	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:140406864A>C	uc003eto.1	+	3	1531	c.1340A>C	c.(1339-1341)AAG>ACG	p.K447T		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	447	COS.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CAGTCAGCCAAGATCCTGGTG	0.542													C	140406864	A	C	140406864	3	2	269	1	0	0	0	0	1	0	0	0	16514	72	3	5	1350	5	TRIM42	3	140406864	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2584124	140406864	57615566	230	132878											
TRPC1	7220	broad.mit.edu	37	chr3	142455271	142455271	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaacagttcaggtgacTtgaacataaattgcgtagat	10	5	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:142455271T>G	uc003evc.2	+	2	359	c.223T>G	c.(223-225)TTG>GTG	p.L75V	TRPC1_uc003evb.2_Missense_Mutation_p.L75V	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	75	Cytoplasmic (Potential).|ANK 1.				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			ovary(2)	2						TTCAGGTGACTTGAACATAAA	0.328													G	142455271	T	G	142455271	3	3	269	1	0	0	0	0	1	0	0	0	16575	1606	56	5	229	5	TRPC1	3	142455271	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2048407	142455271	55567159	231	132879											
SIAH2	6478	broad.mit.edu	37	chr3	150460122	150460122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactccagtctgtaggcaaAgttctcggcttgcttgcggg	12	11	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:150460122A>C	uc003eyi.2	-	2	1408	c.781T>G	c.(781-783)TTT>GTT	p.F261V		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	261	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			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGTAGGCAAAGTTCTCGGCT	0.557													C	150460122	A	C	150460122	3	2	269	1	0	0	0	0	1	0	0	0	14300	72	3	5	197	5	SIAH2	3	150460122	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8004851	150460122	47562308	232	132880											
WDR49	151790	broad.mit.edu	37	chr3	167246946	167246946	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactccactatgagccaaaAattcagccagaagttgcttc	6	12	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:167246946A>C	uc003fev.1	-	10	1550	c.1244T>G	c.(1243-1245)TTT>TGT	p.F415C	WDR49_uc003feu.1_Missense_Mutation_p.F240C|WDR49_uc011bpd.1_Missense_Mutation_p.F479C|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	415										large_intestine(1)|ovary(1)|skin(1)	3						ATGAGCCAAAAATTCAGCCAG	0.383													C	167246946	A	C	167246946	3	2	269	1	0	0	0	0	1	0	0	0	17299	14	1	5	873	5	WDR49	3	167246946	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	16786824	167246946	30775484	233	132881											
LRRC31	79782	broad.mit.edu	37	chr3	169557949	169557949	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccacaatctcgaaaatTtgatggtcgaaggctaatat	8	7	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:169557949T>G	uc003fgc.1	-	9	1557	c.1480A>C	c.(1480-1482)AAT>CAT	p.N494H	LRRC31_uc010hwp.1_Missense_Mutation_p.N438H	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	494										ovary(2)|skin(1)	3	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)			TCTCGAAAATTTGATGGTCGA	0.453													G	169557949	T	G	169557949	3	3	269	1	0	0	0	0	1	0	0	0	8986	1841	64	5	182	5	LRRC31	3	169557949	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2311003	169557949	28464481	234	132882											
TNIK	23043	broad.mit.edu	37	chr3	170802031	170802031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctatgaggccgaatgttggTtgggtttacatttaccaccg	12	8	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:170802031T>C	uc003fhh.2	-	26	3427	c.3082A>G	c.(3082-3084)ACC>GCC	p.T1028A	TNIK_uc003fhi.2_Missense_Mutation_p.T973A|TNIK_uc003fhj.2_Missense_Mutation_p.T999A|TNIK_uc003fhk.2_Missense_Mutation_p.T1020A|TNIK_uc003fhl.2_Missense_Mutation_p.T944A|TNIK_uc003fhm.2_Missense_Mutation_p.T965A|TNIK_uc003fhn.2_Missense_Mutation_p.T991A|TNIK_uc003fho.2_Missense_Mutation_p.T936A|TNIK_uc003fhg.2_Missense_Mutation_p.T206A|TNIK_uc003fhp.2_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1028	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			ovary(4)|large_intestine(1)	5	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)			CGAATGTTGGTTGGGTTTACA	0.413													C	170802031	T	C	170802031	3	2	269	1	0	0	0	0	1	0	0	0	16310	1725	60	3	1032	3	TNIK	3	170802031	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1244082	170802031	27220399	235	132883											
PLD1	5337	broad.mit.edu	37	chr3	171406503	171406503	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acggtcctgaagtgacccgcTtcacactgcccacgtctgtg	10	15	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:171406503T>G	uc003fhs.2	-	14	1618	c.1502A>C	c.(1501-1503)AAG>ACG	p.K501T	PLD1_uc003fht.2_Missense_Mutation_p.K501T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	501	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			ovary(2)|lung(1)	3	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)	AGTGACCCGCTTCACACTGCC	0.463													G	171406503	T	G	171406503	3	3	269	1	0	0	0	0	1	0	0	0	12045	1609	56	5	1778	5	PLD1	3	171406503	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	604472	171406503	26615927	236	132884											
CCDC39	339829	broad.mit.edu	37	chr3	180364998	180364998	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttctccctttaaccgtgAcattctccgttccacttgtt	4	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:180364998A>C	uc010hxe.2	-	11	1511	c.1396T>G	c.(1396-1398)TCA>GCA	p.S466A	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	466	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTAACCGTGACATTCTCCGT	0.313													C	180364998	A	C	180364998	3	2	269	1	0	0	0	0	1	0	0	0	2811	275	10	5	1469	5	CCDC39	3	180364998	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8958495	180364998	17657432	237	132885											
IL1RAP	3556	broad.mit.edu	37	chr3	190326835	190326835	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttggaagttgttcaaaaAgacagctgtttcaattcccc	7	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:190326835A>C	uc003fsm.1	+	5	608	c.402A>C	c.(400-402)AAA>AAC	p.K134N	IL1RAP_uc003fsk.2_Missense_Mutation_p.K134N|IL1RAP_uc003fsl.2_Missense_Mutation_p.K134N|IL1RAP_uc010hzf.2_5'UTR|IL1RAP_uc010hzg.1_Missense_Mutation_p.K134N|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.K134N|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.K134N	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	134	Extracellular (Potential).				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	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)		TTGTTCAAAAAGACAGCTGTT	0.353													C	190326835	A	C	190326835	3	2	269	1	0	0	0	0	1	0	0	0	7660	69	3	5	412	5	IL1RAP	3	190326835	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	9961837	190326835	7695595	238	132886											
ATP13A5	344905	broad.mit.edu	37	chr3	193081085	193081085	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcggtcagccaccagggaTtcttcccacttcttgcttac	9	14	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:193081085T>G	uc011bsq.1	-	3	324	c.324A>C	c.(322-324)GAA>GAC	p.E108D		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	108					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		CCACCAGGGATTCTTCCCACT	0.403													G	193081085	T	G	193081085	3	3	269	1	0	0	0	0	1	0	0	0	1127	1490	52	5	3442	5	ATP13A5	3	193081085	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2754250	193081085	4941345	239	132887											
C3orf43	255798	broad.mit.edu	37	chr3	196234867	196234867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccctcagcaaactgtccTgcagagcctggttctttacc	8	15	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:196234867T>A	uc003fws.2	-	3	693	c.536A>T	c.(535-537)CAG>CTG	p.Q179L	C3orf43_uc003fwr.2_Missense_Mutation_p.Q171L	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	179						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)		CAAACTGTCCTGCAGAGCCTG	0.438													A	196234867	T	A	196234867	3	1	269	1	0	0	0	0	1	0	0	0	2230	1580	55	5	112	5	C3orf43	3	196234867	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3153782	196234867	1787563	240	132888											
C3orf43	255798	broad.mit.edu	37	chr3	196234879	196234879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcctgcagagcctggTtctttaccatgttagtaatt	8	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr3:196234879T>G	uc003fws.2	-	3	681	c.524A>C	c.(523-525)AAC>ACC	p.N175T	C3orf43_uc003fwr.2_Missense_Mutation_p.N167T	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	175						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)		CAGAGCCTGGTTCTTTACCAT	0.453													G	196234879	T	G	196234879	3	3	269	1	0	0	0	0	1	0	0	0	2230	1725	60	5	124	5	C3orf43	3	196234879	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12	196234879	1787551	241	132889											
NOP14	8602	broad.mit.edu	37	chr4	2964964	2964964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcgaacggattggagTtggccttcgccgggccccct	12	15	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:2964964T>G	uc003ggj.1	-	1	155	c.83A>C	c.(82-84)AAC>ACC	p.N28T	GRK4_uc003ggn.1_5'Flank|GRK4_uc003ggo.1_5'Flank|GRK4_uc003ggp.1_5'Flank|GRK4_uc003ggq.1_5'Flank|NOP14_uc003ggk.3_Missense_Mutation_p.N28T|NOP14_uc003ggl.2_Missense_Mutation_p.N28T|NOP14_uc010icq.1_RNA|GRK4_uc003ggm.2_5'Flank	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	28					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			pancreas(1)	1						CGGATTGGAGTTGGCCTTcgc	0.547													G	2964964	T	G	2964964	3	3	269	1	0	0	0	0	1	0	0	0	10536	1725	60	5	2562	5	NOP14	4	2964964	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		2964964	188189312	242	132890											
RGS12	6002	broad.mit.edu	37	chr4	3318489	3318489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacatgctttctaaggagGaaatatcaaaagttattcat	6	7	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:3318489G>A	uc003ggw.2	+	2	1496	c.592G>A	c.(592-594)GAA>AAA	p.E198K	RGS12_uc003ggu.2_Missense_Mutation_p.E198K|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.E198K|RGS12_uc003ggx.1_Missense_Mutation_p.E198K	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	198						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCTAAGGAGGAAATATCAAA	0.368													A	3318489	G	A	3318489	3	1	269	1	0	0	0	0	1	0	0	0	13295	1175	41	4	594	4	RGS12	4	3318489	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	353525	3318489	187835787	243	132891											
CRMP1	1400	broad.mit.edu	37	chr4	5853180	5853180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttataggccatgtagacTtggaaggaattgacgcctgt	11	8	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:5853180T>C	uc003gip.2	-	6	596	c.495A>G	c.(493-495)CAA>CAG	p.Q165Q	CRMP1_uc003gin.1_Silent_p.Q77Q|CRMP1_uc003giq.2_Silent_p.Q165Q|CRMP1_uc003gir.2_Silent_p.Q160Q|CRMP1_uc003gis.2_Silent_p.Q279Q	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	165					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CCATGTAGACTTGGAAGGAAT	0.443													C	5853180	T	C	5853180	2	2	269	1	0	0	0	0	0	0	0	1	3890	1606	56	3		3	CRMP1	4	5853180	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2534691	5853180	185301096	244	132892											
AFAP1	60312	broad.mit.edu	37	chr4	7802299	7802299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttcaggtcggtcctgTccttgtggaaaatgagcttg	14	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:7802299T>C	uc003gkg.1	-	10	1409	c.1136A>G	c.(1135-1137)GAC>GGC	p.D379G	AFAP1_uc011bwk.1_Missense_Mutation_p.D379G	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	379	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GTCGGTCCTGTCCTTGTGGAA	0.557													C	7802299	T	C	7802299	3	2	269	1	0	0	0	0	1	0	0	0	353	1667	58	3	1344	3	AFAP1	4	7802299	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1949119	7802299	183351977	245	132893											
CLNK	116449	broad.mit.edu	37	chr4	10503023	10503023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaacaatctcggaccaAgaaactaccatcctgaagca	8	11	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:10503023A>T	uc003gmo.3	-	18	1134	c.997T>A	c.(997-999)TTG>ATG	p.L333M		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	mast cell immunoreceptor signal transducer	333	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1						TCTCGGACCAAGAAACTACCA	0.423													T	10503023	A	T	10503023	3	4	269	1	0	0	0	0	1	0	0	0	3547	69	3	5	297	5	CLNK	4	10503023	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2700724	10503023	180651253	246	132894											
C1QTNF7	114905	broad.mit.edu	37	chr4	15443895	15443895	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggagagaaaggagaAgtaggtccaattggtcctcc	14	8	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:15443895A>C	uc011bxb.1	+	3	569	c.342A>C	c.(340-342)GAA>GAC	p.E114D	C1QTNF7_uc003gno.2_Missense_Mutation_p.E121D|C1QTNF7_uc003gnp.2_Missense_Mutation_p.E114D	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	114	Collagen-like.					collagen					0						AGAAAGGAGAAGTAGGTCCAA	0.552													C	15443895	A	C	15443895	3	2	269	1	0	0	0	0	1	0	0	0	1968	69	3	5	373	5	C1QTNF7	4	15443895	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4940872	15443895	175710381	247	132895											
SLC34A2	10568	broad.mit.edu	37	chr4	25674816	25674816	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatcatgattgtcaagAtcctgggctctgtgctcaag	11	10	4	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:25674816A>T	uc003grr.2	+	10	1237	c.1156A>T	c.(1156-1158)ATC>TTC	p.I386F	SLC34A2_uc003grs.2_Missense_Mutation_p.I385F|SLC34A2_uc010iev.2_Missense_Mutation_p.I385F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	386	Cytoplasmic (Potential).				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			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				GATTGTCAAGATCCTGGGCTC	0.522													T	25674816	A	T	25674816	3	4	269	1	0	0	0	0	1	0	0	0	14568	333	12	5	1190	5	SLC34A2	4	25674816	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	10230921	25674816	165479460	248	132896											
TBC1D1	23216	broad.mit.edu	37	chr4	38138919	38138919	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagcccagcgaccgggAgcctgagtgcacgcagcccg	15	16	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:38138919A>T	uc003gtb.2	+	20	3813	c.3470A>T	c.(3469-3471)GAG>GTG	p.E1157V	TBC1D1_uc011byd.1_Missense_Mutation_p.E1148V|TBC1D1_uc010ifd.2_Missense_Mutation_p.E944V|TBC1D1_uc003gtd.2_Missense_Mutation_p.E169V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1157						nucleus	Rab GTPase activator activity			ovary(1)	1						AGCGACCGGGAGCCTGAGTGC	0.647													T	38138919	A	T	38138919	3	4	269	1	0	0	0	0	1	0	0	0	15594	304	11	5	3544	5	TBC1D1	4	38138919	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	12464103	38138919	153015357	249	132897											
NSUN7	79730	broad.mit.edu	37	chr4	40762498	40762498	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagacagctgtatcttcccaAgtaccacaatagtaagtaga	7	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:40762498A>C	uc003gvj.3	+	3	841	c.346A>C	c.(346-348)AGT>CGT	p.S116R	NSUN7_uc003gvh.2_Missense_Mutation_p.S116R|NSUN7_uc003gvi.3_Missense_Mutation_p.S116R	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0						TATCTTCCCAAGTACCACAAT	0.289													C	40762498	A	C	40762498	3	2	269	1	0	0	0	0	1	0	0	0	10683	72	3	5	352	5	NSUN7	4	40762498	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2623579	40762498	150391778	250	132898											
RASL11B	65997	broad.mit.edu	37	chr4	53731608	53731608	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgactacaagagctatgaacTcatcagccagctccaccagc	7	14	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:53731608T>A	uc003gzt.2	+	4	563	c.383T>A	c.(382-384)CTC>CAC	p.L128H		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	128	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			AGCTATGAACTCATCAGCCAG	0.552													A	53731608	T	A	53731608	3	1	269	1	0	0	0	0	1	0	0	0	13082	1551	54	5	397	5	RASL11B	4	53731608	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12969110	53731608	137422668	251	132899											
HOPX	84525	broad.mit.edu	37	chr4	57522115	57522115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgttgaagttgtactCcaggatttccacctggtcct	9	11	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:57522115C>T	uc011cad.1	-	2	287	c.52G>A	c.(52-54)GAG>AAG	p.E18K	HOPX_uc003hcc.2_Missense_Mutation_p.E36K|HOPX_uc003hca.2_Missense_Mutation_p.E36K|HOPX_uc003hcb.2_Missense_Mutation_p.E18K|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E18K	NM_001145459	NP_001138931	Q9BPY8	HOP_HUMAN	HOP homeobox isoform b	18	Homeobox; atypical.				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Glioma(25;0.08)|all_neural(26;0.101)					AAGTTGTACTCCAGGATTTCC	0.677													T	57522115	C	T	57522115	3	4	269	1	0	0	0	0	1	0	0	0	7285	864	30	4	311	4	HOPX	4	57522115	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3790507	57522115	133632161	252	132900											
G3BP2	9908	broad.mit.edu	37	chr4	76571575	76571575	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcaaaaaccacaaaacCaaaatttggaagctttcccc	4	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:76571575C>G	uc003hir.2	-	11	1288	c.1123G>C	c.(1123-1125)GGT>CGT	p.G375R	G3BP2_uc003his.2_Missense_Mutation_p.G375R|G3BP2_uc003hit.2_Missense_Mutation_p.G342R	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	375	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(2)|central_nervous_system(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACCACAAAACCAAAATTTGGA	0.343													G	76571575	C	G	76571575	3	3	269	1	0	0	0	0	1	0	0	0	6142	594	21	5	333	5	G3BP2	4	76571575	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	19049460	76571575	114582701	253	132901											
CCDC158	339965	broad.mit.edu	37	chr4	77292583	77292583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttaccaacagcttttgaAgttgatcatctaaatttcca	4	9	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:77292583A>C	uc003hkb.3	-	9	1289	c.1136T>G	c.(1135-1137)CTT>CGT	p.L379R		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	379	Potential.							p.L379F(1)		skin(3)|ovary(2)|pancreas(1)	6						CAGCTTTTGAAGTTGATCATC	0.363													C	77292583	A	C	77292583	3	2	269	1	0	0	0	0	1	0	0	0	2790	72	3	5	2269	5	CCDC158	4	77292583	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	721008	77292583	113861693	254	132902											
SEPT11	55752	broad.mit.edu	37	chr4	77941688	77941688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcgattttgtgaaacTtcgagagatgctgatccgcg	11	8	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:77941688T>C	uc003hkj.2	+	7	980	c.818T>C	c.(817-819)CTT>CCT	p.L273P	SEPT11_uc010ijh.1_Missense_Mutation_p.L265P|SEPT11_uc011cca.1_Missense_Mutation_p.L283P|SEPT11_uc003hkk.1_Missense_Mutation_p.L73P	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	273					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						TTTGTGAAACTTCGAGAGATG	0.473													C	77941688	T	C	77941688	3	2	269	1	0	0	0	0	1	0	0	0	14061	1609	56	3	844	3	SEPT11	4	77941688	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	649105	77941688	113212588	255	132903											
FRAS1	80144	broad.mit.edu	37	chr4	79394700	79394700	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaacccaatgtggtcaGcgacaatgtcttccatatcc	7	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:79394700G>C	uc003hlb.2	+	53	8071	c.7631G>C	c.(7630-7632)AGC>ACC	p.S2544T		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2543	Calx-beta 1.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AATGTGGTCAGCGACAATGTC	0.413													C	79394700	G	C	79394700	3	2	269	1	0	0	0	0	1	0	0	0	6042	971	34	5	7916	5	FRAS1	4	79394700	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1453012	79394700	111759576	256	132904											
FRAS1	80144	broad.mit.edu	37	chr4	79437061	79437061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagccgaagaccatccagcTctacaaacacctgaacctga	7	14	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:79437061T>C	uc003hlb.2	+	66	10723	c.10283T>C	c.(10282-10284)CTC>CCC	p.L3428P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3423	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ACCATCCAGCTCTACAAACAC	0.547													C	79437061	T	C	79437061	3	2	269	1	0	0	0	0	1	0	0	0	6042	1551	54	3	10620	3	FRAS1	4	79437061	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	42361	79437061	111717215	257	132905											
BMP3	651	broad.mit.edu	37	chr4	81967099	81967099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcaaattcagcagaaAccaaagtcaactccttggcc	6	14	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:81967099A>C	uc003hmg.3	+	2	844	c.524A>C	c.(523-525)AAC>ACC	p.N175T		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	175					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						TTCAGCAGAAACCAAAGTCAA	0.453													C	81967099	A	C	81967099	3	2	269	1	0	0	0	0	1	0	0	0	1461	43	2	5	530	5	BMP3	4	81967099	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2530038	81967099	109187177	258	132906											
C4orf17	84103	broad.mit.edu	37	chr4	100463127	100463127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaaatacctgttgcagAatatttcagcaaaccaaatt	5	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:100463127A>G	uc003huw.2	+	9	1264	c.941A>G	c.(940-942)GAA>GGA	p.E314G	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	314											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CCTGTTGCAGAATATTTCAGC	0.383													G	100463127	A	G	100463127	3	3	269	1	0	0	0	0	1	0	0	0	2252	246	9	3	971	3	C4orf17	4	100463127	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	18496028	100463127	90691149	259	132907											
NHEDC1	150159	broad.mit.edu	37	chr4	103853399	103853399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaccatatccattttcTtgcagcaccatcatgtaagg	5	12	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:103853399T>C	uc003hww.2	-	7	833	c.711A>G	c.(709-711)CAA>CAG	p.Q237Q	NHEDC1_uc003hwu.2_Silent_p.Q237Q|NHEDC1_uc010ilm.2_Silent_p.Q4Q|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_5'UTR	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	237						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		ATCCATTTTCTTGCAGCACCA	0.378													C	103853399	T	C	103853399	2	2	269	1	0	0	0	0	0	0	0	1	10400	1606	56	3		3	NHEDC1	4	103853399	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3390272	103853399	87300877	260	132908											
CENPE	1062	broad.mit.edu	37	chr4	104080416	104080416	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actctactctccttatgaacTacttcagaaaacaatttatc	2	11	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:104080416T>A	uc003hxb.1	-	22	2442	c.2352A>T	c.(2350-2352)GTA>GTT	p.V784V	CENPE_uc003hxc.1_Silent_p.V759V	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	784	Potential.				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			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTTATGAACTACTTCAGAAA	0.318													A	104080416	T	A	104080416	2	1	269	1	0	0	0	0	0	0	0	1	3230	1509	53	5		5	CENPE	4	104080416	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	227017	104080416	87073860	261	132909											
NPNT	255743	broad.mit.edu	37	chr4	106861764	106861764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagtgcaaatgtaaagaagGataccagggtgatggactga	13	5	0	3	rs141847563		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:106861764G>A	uc003hya.2	+	7	939	c.734G>A	c.(733-735)GGA>GAA	p.G245E	NPNT_uc011cfc.1_Missense_Mutation_p.G262E|NPNT_uc011cfd.1_Missense_Mutation_p.G275E|NPNT_uc011cfe.1_Missense_Mutation_p.G275E|NPNT_uc010ilt.1_Missense_Mutation_p.G245E|NPNT_uc011cff.1_Missense_Mutation_p.G245E|NPNT_uc010ilu.1_Missense_Mutation_p.G141E	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	245	EGF-like 5; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGTAAAGAAGGATACCAGGGT	0.443													A	106861764	G	A	106861764	3	1	269	1	0	0	0	0	1	0	0	0	10590	1174	41	4	909	4	NPNT	4	106861764	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2781348	106861764	84292512	262	132910											
SYNPO2	171024	broad.mit.edu	37	chr4	119951710	119951710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacggccaaacccttcccaGggtctgtgaatcagccagct	10	14	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:119951710G>A	uc003icm.3	+	4	1976	c.1780G>A	c.(1780-1782)GGG>AGG	p.G594R	SYNPO2_uc010ina.2_Missense_Mutation_p.G594R|SYNPO2_uc010inb.2_Missense_Mutation_p.G594R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.G522R	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	594	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						ACCCTTCCCAGGGTCTGTGAA	0.542													A	119951710	G	A	119951710	3	1	269	1	0	0	0	0	1	0	0	0	15454	1000	35	4	1794	4	SYNPO2	4	119951710	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	13089946	119951710	71202566	263	132911											
PCDH18	54510	broad.mit.edu	37	chr4	138452673	138452673	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatacttggctccatcAgtcctggtccgaacctcgat	8	14	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:138452673A>T	uc003ihe.3	-	1	957	c.570T>A	c.(568-570)ACT>ACA	p.T190T	PCDH18_uc003ihf.3_Silent_p.T183T|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	190	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TGGCTCCATCAGTCCTGGTCC	0.488													T	138452673	A	T	138452673	2	4	269	1	0	0	0	0	0	0	0	1	11513	175	7	5		5	PCDH18	4	138452673	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	18500963	138452673	52701603	264	132912											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	13	10	0	0	rs62344938		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:140811117C>T	uc003ihz.1	-	2	2225	c.1473G>A	c.(1471-1473)CAG>CAA	p.Q491Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.284													T	140811117	C	T	140811117	2	4	269	1	0	0	0	0	0	0	0	1	9207	796	28	2		2	MAML3	4	140811117	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2358444	140811117	50343159	265	132913											
RNF150	57484	broad.mit.edu	37	chr4	141870500	141870500	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctggagtttgctgatggcTttctttgctgcatcccccag	10	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:141870500T>C	uc003iio.1	-	3	1416	c.762A>G	c.(760-762)AAA>AAG	p.K254K	RNF150_uc010iok.1_Silent_p.K212K|RNF150_uc003iip.1_Silent_p.K254K	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	254	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					TGCTGATGGCTTTCTTTGCTG	0.403													C	141870500	T	C	141870500	2	2	269	1	0	0	0	0	0	0	0	1	13451	1606	56	3		3	RNF150	4	141870500	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1059383	141870500	49283776	266	132914											
GYPE	2996	broad.mit.edu	37	chr4	144801595	144801595	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgagatgtaactctttgtGactgaagaagaggttgaagt	13	3	1	6			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:144801595G>T	uc003ijj.2	-	2	161	c.105C>A	c.(103-105)GTC>GTA	p.V35V	GYPE_uc010ion.2_RNA|GYPE_uc003ijk.3_Silent_p.V35V	NM_198682	NP_941391	P15421	GLPE_HUMAN	glycophorin E precursor	35	Extracellular (Potential).					integral to plasma membrane					0	all_hematologic(180;0.158)					AACTCTTTGTGACTGAAGAAG	0.368													T	144801595	G	T	144801595	2	4	269	1	0	0	0	0	0	0	0	1	6911	1277	45	5		5	GYPE	4	144801595	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2931095	144801595	46352681	267	132915											
TIGD4	201798	broad.mit.edu	37	chr4	153690741	153690741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagttattgcctcagaTtttgatggtaaagggagttc	11	5	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:153690741T>G	uc003imy.2	-	2	2198	c.1416A>C	c.(1414-1416)AAA>AAC	p.K472N		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	472					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					TTGCCTCAGATTTTGATGGTA	0.353													G	153690741	T	G	153690741	3	3	269	1	0	0	0	0	1	0	0	0	15895	1490	52	5	126	5	TIGD4	4	153690741	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8889146	153690741	37463535	268	132916											
KIAA0922	23240	broad.mit.edu	37	chr4	154505988	154505988	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttctttataccacaaagcAgctacatcatgtgacagtgg	7	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:154505988A>T	uc003inm.3	+	12	1113	c.1061_splice	c.e12-2	p.A354_splice	KIAA0922_uc010ipp.2_Silent_p.A354A|KIAA0922_uc010ipq.2_Silent_p.A206A|KIAA0922_uc010ips.1_5'UTR	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2							integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				ACCACAAAGCAGCTACATCAT	0.343													T	154505988	A	T	154505988	5	4	269	1	0	0	0	0	0	0	1	0	8201	202	7	5	1108	5	KIAA0922	4	154505988	Splice_Site	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	815247	154505988	36648288	269	132917											
RBM46	166863	broad.mit.edu	37	chr4	155719202	155719202	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaattcgaccagggaagTttattggtgtgtgtgtaagc	13	4	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:155719202T>G	uc003ioo.2	+	3	564	c.391T>G	c.(391-393)TTT>GTT	p.F131V	RBM46_uc011cim.1_Missense_Mutation_p.F131V|RBM46_uc003iop.1_Missense_Mutation_p.F131V	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	131	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				ACCAGGGAAGTTTATTGGTGT	0.333													G	155719202	T	G	155719202	3	3	269	1	0	0	0	0	1	0	0	0	13140	1725	60	5	397	5	RBM46	4	155719202	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1213214	155719202	35435074	270	132918											
FNIP2	57600	broad.mit.edu	37	chr4	159790415	159790415	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcccctgtggggatgacaAcaagaaggccaacttcagga	11	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:159790415A>C	uc003iqe.3	+	13	2810	c.2627A>C	c.(2626-2628)AAC>ACC	p.N876T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	876	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGGGATGACAACAAGAAGGCC	0.602													C	159790415	A	C	159790415	3	2	269	1	0	0	0	0	1	0	0	0	5976	43	2	5	2677	5	FNIP2	4	159790415	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4071213	159790415	31363861	271	132919											
TRIM61	391712	broad.mit.edu	37	chr4	165890990	165890990	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggacagcaaaagtggcaAaaggggcaggggaaactatc	14	7	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:165890990A>C	uc003iqw.2	-	3	776	c.165T>G	c.(163-165)TTT>TTG	p.F55L		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	tripartite motif-containing 61	55	RING-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		AAAAGTGGCAAAAGGGGCAGG	0.448													C	165890990	A	C	165890990	3	2	269	1	0	0	0	0	1	0	0	0	16533	11	1	5	472	5	TRIM61	4	165890990	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	6100575	165890990	25263286	272	132920											
CLCN3	1182	broad.mit.edu	37	chr4	170628052	170628052	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgactgtctccctggtggTtattgtttttgagcttactg	10	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:170628052T>G	uc003isi.2	+	11	2293	c.1784T>G	c.(1783-1785)GTT>GGT	p.V595G	CLCN3_uc003ish.2_Missense_Mutation_p.V595G|CLCN3_uc011cjz.1_Missense_Mutation_p.V578G|CLCN3_uc011cka.1_Missense_Mutation_p.V568G|CLCN3_uc003isj.1_Missense_Mutation_p.V568G	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	595					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(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCCCTGGTGGTTATTGTTTTT	0.443													G	170628052	T	G	170628052	3	3	269	1	0	0	0	0	1	0	0	0	3464	1725	60	5	1822	5	CLCN3	4	170628052	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4737062	170628052	20526224	273	132921											
MFAP3L	9848	broad.mit.edu	37	chr4	170912682	170912682	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgtgacatcggtagaAggttctgcagtttcggggga	17	6	1	2	rs142121641		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:170912682A>C	uc003isp.3	-	3	1255	c.1077T>G	c.(1075-1077)CCT>CCG	p.P359P	MFAP3L_uc003isn.3_Silent_p.P256P	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	359	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		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)		CATCGGTAGAAGGTTCTGCAG	0.512													C	170912682	A	C	170912682	2	2	269	1	0	0	0	0	0	0	0	1	9516	59	3	5		5	MFAP3L	4	170912682	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	284630	170912682	20241594	274	132922											
NEIL3	55247	broad.mit.edu	37	chr4	178274525	178274525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaatgaagtacccgtgtaAtacttttggaaaacctcata	6	8	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:178274525A>G	uc003iut.2	+	8	1220	c.1103A>G	c.(1102-1104)AAT>AGT	p.N368S	NEIL3_uc010irs.2_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	368					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			lung(2)|ovary(1)|central_nervous_system(1)	4		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)		TACCCGTGTAATACTTTTGGA	0.368								BER_DNA_glycosylases					G	178274525	A	G	178274525	3	3	269	1	0	0	0	0	1	0	0	0	10320	101	4	3	1133	3	NEIL3	4	178274525	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7361843	178274525	12879751	275	132923											
CYP4V2	285440	broad.mit.edu	37	chr4	187117203	187117203	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaatcctctatgtacaAgtttttagaaccatggcttg	7	8	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr4:187117203A>T	uc003iyw.3	+	3	678	c.374A>T	c.(373-375)AAG>ATG	p.K125M		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	125					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TCTATGTACAAGTTTTTAGAA	0.363													T	187117203	A	T	187117203	3	4	269	1	0	0	0	0	1	0	0	0	4192	72	3	5	384	5	CYP4V2	4	187117203	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8842678	187117203	4037073	276	132924											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146481	5146481	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcactaagtctgtgcagacTttaccgccagaggacttctg	11	11	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:5146481T>G	uc003jdl.2	+	3	552	c.414T>G	c.(412-414)ACT>ACG	p.T138T	ADAMTS16_uc003jdk.1_Silent_p.T138T|ADAMTS16_uc003jdj.1_Silent_p.T138T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CTGTGCAGACTTTACCGCCAG	0.527													G	5146481	T	G	5146481	2	3	269	1	0	0	0	0	0	0	0	1	261	1596	56	5		5	ADAMTS16	5	5146481	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		5146481	175768779	277	132925											
NSUN2	54888	broad.mit.edu	37	chr5	6611109	6611109	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagcttttctgggtccttCggagggaacatggtaggtcg	15	8	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:6611109C>T	uc003jdu.2	-	11	1250	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	NSUN2_uc003jdt.2_Silent_p.P159P|NSUN2_uc011cmk.1_Silent_p.P360P|NSUN2_uc003jdv.2_Silent_p.P159P	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	395						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						CTGGGTCCTTCGGAGGGAACA	0.592													T	6611109	C	T	6611109	2	4	269	1	0	0	0	0	0	0	0	1	10678	871	31	1		1	NSUN2	5	6611109	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	1464628	6611109	174304151	278	132926											
MARCH6	10299	broad.mit.edu	37	chr5	10397414	10397414	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctttaggaacatgtcTtctgggtggtatctttaaat	8	6	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:10397414T>G	uc003jet.1	+	10	1054	c.871T>G	c.(871-873)TTC>GTC	p.F291V	MARCH6_uc011cmu.1_Missense_Mutation_p.F243V|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.F186V	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	291	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						GGAACATGTCTTCTGGGTGGT	0.284													G	10397414	T	G	10397414	3	3	269	1	0	0	0	0	1	0	0	0	9305	1609	56	5	909	5	MARCH6	5	10397414	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3786305	10397414	170517846	279	132927											
CTNND2	1501	broad.mit.edu	37	chr5	11117639	11117639	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtaagcccatcacactctcTcatccttctgcgggcctcct	6	18	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:11117639T>A	uc003jfa.1	-	13	2345	c.2200A>T	c.(2200-2202)AGA>TGA	p.R734*	CTNND2_uc010itt.2_Nonsense_Mutation_p.R643*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R397*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R301*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R301*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	734	ARM 6.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TCACACTCTCTCATCCTTCTG	0.522													A	11117639	T	A	11117639	4	1	269	1	0	0	0	0	0	1	0	0	4020	1559	54	5	1517	5	CTNND2	5	11117639	Nonsense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	720225	11117639	169797621	280	132928											
PRLR	5618	broad.mit.edu	37	chr5	35066132	35066132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatactccaccagcaAgtcctcatagtcagaagtgg	7	11	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:35066132A>G	uc003jjm.2	-	10	1458	c.928T>C	c.(928-930)TTG>CTG	p.L310L	PRLR_uc003jjg.1_Silent_p.L310L|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.L209L	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	310	Cytoplasmic (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCCACCAGCAAGTCCTCATAG	0.433													G	35066132	A	G	35066132	2	3	269	1	0	0	0	0	0	0	0	1	12531	69	3	3		3	PRLR	5	35066132	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	23948493	35066132	145849128	281	132929											
IL7R	3575	broad.mit.edu	37	chr5	35876392	35876392	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agactgcagggagagtggcaAgaatgggcctcatgtgtacc	15	8	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:35876392A>C	uc003jjs.2	+	8	1273	c.1184A>C	c.(1183-1185)AAG>ACG	p.K395T	IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	395	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAGTGGCAAGAATGGGCCT	0.542													C	35876392	A	C	35876392	3	2	269	1	0	0	0	0	1	0	0	0	7705	72	3	5	1214	5	IL7R	5	35876392	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	810260	35876392	145038868	282	132930											
C5orf42	65250	broad.mit.edu	37	chr5	37173971	37173971	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgttggagcaggtggTtgtgaagcaacattgactcc	15	6	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:37173971T>G	uc011cpa.1	-	32	6288	c.6057A>C	c.(6055-6057)CAA>CAC	p.Q2019H	C5orf42_uc011coy.1_Missense_Mutation_p.Q519H|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q1094H|C5orf42_uc003jkr.1_Missense_Mutation_p.Q52H	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2019										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGCAGGTGGTTGTGAAGCAA	0.418													G	37173971	T	G	37173971	3	3	269	1	0	0	0	0	1	0	0	0	2301	1722	60	5	3620	5	C5orf42	5	37173971	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1297579	37173971	143741289	283	132931											
RAD17	5884	broad.mit.edu	37	chr5	68692326	68692326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgccaaggaggaggatcaAgttttcgacccttgcacaaa	10	9	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:68692326A>C	uc003jwo.2	+	13	1620	c.1558A>C	c.(1558-1560)AGT>CGT	p.S520R	RAD17_uc003jwg.2_Missense_Mutation_p.S509R|RAD17_uc003jwh.2_Missense_Mutation_p.S509R|RAD17_uc003jwi.2_Missense_Mutation_p.S509R|RAD17_uc003jwj.2_Missense_Mutation_p.S509R|RAD17_uc003jwk.2_Missense_Mutation_p.S509R|RAD17_uc003jwl.2_Missense_Mutation_p.S509R|RAD17_uc003jwm.2_Missense_Mutation_p.S344R|RAD17_uc003jwn.2_Missense_Mutation_p.S423R|RAD17_uc003jwp.2_Missense_Mutation_p.S80R	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	520	Interaction with MCM7.				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				0		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)		AGGAGGATCAAGTTTTCGACC	0.323								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					C	68692326	A	C	68692326	3	2	269	1	0	0	0	0	1	0	0	0	12979	72	3	5	1621	5	RAD17	5	68692326	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	31518355	68692326	112222934	284	132932											
MAP1B	4131	broad.mit.edu	37	chr5	71494245	71494245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggccaactgaagtggActacagtccttctgacatgc	10	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:71494245A>C	uc003kbw.3	+	5	5304	c.5063A>C	c.(5062-5064)GAC>GCC	p.D1688A	MAP1B_uc010iyw.1_Missense_Mutation_p.D1705A|MAP1B_uc010iyx.1_Missense_Mutation_p.D1562A|MAP1B_uc010iyy.1_Missense_Mutation_p.D1562A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1688						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		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)		ACTGAAGTGGACTACAGTCCT	0.493													C	71494245	A	C	71494245	3	2	269	1	0	0	0	0	1	0	0	0	9228	275	10	5	5081	5	MAP1B	5	71494245	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2801919	71494245	109421015	285	132933											
IQGAP2	10788	broad.mit.edu	37	chr5	75757491	75757491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacttagaggaagccaAaaggtaagatccagacttag	11	8	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:75757491A>G	uc003kek.2	+	2	365	c.143A>G	c.(142-144)AAA>AGA	p.K48R		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	48	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGGAAGCCAAAAGGTAAGAT	0.468													G	75757491	A	G	75757491	3	3	269	1	0	0	0	0	1	0	0	0	7815	14	1	3	149	3	IQGAP2	5	75757491	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4263246	75757491	105157769	286	132934											
WDR41	55255	broad.mit.edu	37	chr5	76732183	76732183	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taacaggttggctggcttgtTtgctgactcttccaaatccc	9	11	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:76732183T>G	uc003kff.1	-	12	1417	c.1130A>C	c.(1129-1131)AAA>ACA	p.K377T	WDR41_uc011csy.1_Missense_Mutation_p.K319T|WDR41_uc011csz.1_Missense_Mutation_p.K322T	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	377											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GCTGGCTTGTTTGCTGACTCT	0.373													G	76732183	T	G	76732183	3	3	269	1	0	0	0	0	1	0	0	0	17291	1841	64	5	257	5	WDR41	5	76732183	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	974692	76732183	104183077	287	132935											
SSBP2	23635	broad.mit.edu	37	chr5	80738511	80738511	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtactgcattcattaaAgtatacatgttatcaccaga	8	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:80738511A>C	uc003kho.2	-	13	1021	c.810T>G	c.(808-810)ACT>ACG	p.T270T	RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Silent_p.T158T|SSBP2_uc003khn.2_Silent_p.T144T|SSBP2_uc003khp.2_Silent_p.T278T|SSBP2_uc011ctp.1_Silent_p.T250T|SSBP2_uc011ctq.1_Silent_p.T248T|SSBP2_uc011ctr.1_Silent_p.T240T	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	270	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CATTCATTAAAGTATACATGT	0.294													C	80738511	A	C	80738511	2	2	269	1	0	0	0	0	0	0	0	1	15179	59	3	5		5	SSBP2	5	80738511	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4006328	80738511	100176749	288	132936											
GPR98	84059	broad.mit.edu	37	chr5	89948273	89948273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaacttcaggaactgTtaacttcatggatggagaag	10	6	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:89948273T>C	uc003kju.2	+	19	3623	c.3527T>C	c.(3526-3528)GTT>GCT	p.V1176A	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1176	Calx-beta 9.|Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TCAGGAACTGTTAACTTCATG	0.383													C	89948273	T	C	89948273	3	2	269	1	0	0	0	0	1	0	0	0	6721	1725	60	3	3601	3	GPR98	5	89948273	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	9209762	89948273	90966987	289	132937											
GPR98	84059	broad.mit.edu	37	chr5	89986632	89986632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttttcagattactaaacTtattgtagaggaacctgagt	9	5	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:89986632T>G	uc003kju.2	+	31	6821	c.6725T>G	c.(6724-6726)CTT>CGT	p.L2242R	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2242	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		ATTACTAAACTTATTGTAGAG	0.408													G	89986632	T	G	89986632	3	3	269	1	0	0	0	0	1	0	0	0	6721	1609	56	5	6847	5	GPR98	5	89986632	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	38359	89986632	90928628	290	132938											
FAM172A	83989	broad.mit.edu	37	chr5	93300165	93300165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttaaaatttgacttactgGaatagatacttttttcaaat	4	5	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:93300165G>A	uc010jbd.2	-	5	580	c.373C>T	c.(373-375)CCA>TCA	p.P125S	FAM172A_uc011cuf.1_Missense_Mutation_p.P79S|FAM172A_uc011cug.1_Missense_Mutation_p.P79S|FAM172A_uc011cuh.1_Missense_Mutation_p.P42S|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Missense_Mutation_p.P125S	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	125						endoplasmic reticulum|extracellular region					0						TGACTTACTGGAATAGATACT	0.269													A	93300165	G	A	93300165	3	1	269	1	0	0	0	0	1	0	0	0	5492	1174	41	4	905	4	FAM172A	5	93300165	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	3313533	93300165	87615095	291	132939											
LNPEP	4012	broad.mit.edu	37	chr5	96364142	96364142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagtcagaggcaaccTtccggcttcgttgtgtccag	10	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:96364142T>G	uc003kmv.1	+	18	3497	c.2983T>G	c.(2983-2985)TTC>GTC	p.F995V	LNPEP_uc003kmw.1_Missense_Mutation_p.F981V	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	995	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		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)		AGAGGCAACCTTCCGGCTTCG	0.448													G	96364142	T	G	96364142	3	3	269	1	0	0	0	0	1	0	0	0	8864	1609	56	5	3053	5	LNPEP	5	96364142	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3063977	96364142	84551118	292	132940											
SEMA6A	57556	broad.mit.edu	37	chr5	115822533	115822533	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggagaatgttgaaatAaaaatgagagtctccaggaa	11	5	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:115822533A>T	uc010jck.2	-	10	1583	c.874T>A	c.(874-876)TAT>AAT	p.Y292N	SEMA6A_uc003krx.3_Missense_Mutation_p.Y292N	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	292	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		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)		ATGTTGAAATAAAAATGAGAG	0.458													T	115822533	A	T	115822533	3	4	269	1	0	0	0	0	1	0	0	0	14039	362	13	5	2258	5	SEMA6A	5	115822533	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	19458391	115822533	65092727	293	132941											
SLC12A2	6558	broad.mit.edu	37	chr5	127448545	127448545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaatggggaagaaagtActccaaccagagatgctgtg	12	7	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:127448545A>G	uc003kus.2	+	2	960	c.796A>G	c.(796-798)ACT>GCT	p.T266A	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.T266A	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	266	Cytoplasmic (Potential).				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			ovary(3)	3		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)	GGAAGAAAGTACTCCAACCAG	0.343													G	127448545	A	G	127448545	3	3	269	1	0	0	0	0	1	0	0	0	14383	391	14	3	802	3	SLC12A2	5	127448545	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	11626012	127448545	53466715	294	132942											
KDM3B	51780	broad.mit.edu	37	chr5	137762680	137762680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacgactacggtcagaAgatgggcagccaatggtgct	13	10	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:137762680A>C	uc003lcy.1	+	18	4628	c.4428A>C	c.(4426-4428)GAA>GAC	p.E1476D	KDM3B_uc010jew.1_Missense_Mutation_p.E1132D|KDM3B_uc011cys.1_Missense_Mutation_p.E508D	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1476					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			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						TACGGTCAGAAGATGGGCAGC	0.488													C	137762680	A	C	137762680	3	2	269	1	0	0	0	0	1	0	0	0	8127	69	3	5	4498	5	KDM3B	5	137762680	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	10314135	137762680	43152580	295	132943											
PCDHA10	56139	broad.mit.edu	37	chr5	140236835	140236835	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagctggtgtccacctacaAgaattactactcattggtgc	8	11	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140236835A>C	uc003lhx.2	+	1	1202	c.1202A>C	c.(1201-1203)AAG>ACG	p.K401T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.K401T|PCDHA10_uc011dad.1_Missense_Mutation_p.K401T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	401	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACCTACAAGAATTACTAC	0.597													C	140236835	A	C	140236835	3	2	269	1	0	0	0	0	1	0	0	0	11520	72	3	5	1204	5	PCDHA10	5	140236835	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2474155	140236835	40678425	296	132944											
PCDHA10	56139	broad.mit.edu	37	chr5	140237019	140237019	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtccgagtacacggtgttCgtgaaggagaacaacccgcc	12	12	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140237019C>T	uc003lhx.2	+	1	1386	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.F462F|PCDHA10_uc011dad.1_Silent_p.F462F	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	462	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTGTTCGTGAAGGAGA	0.667													T	140237019	C	T	140237019	2	4	269	1	0	0	0	0	0	0	0	1	11520	883	31	1		1	PCDHA10	5	140237019	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	184	140237019	40678241	297	132945											
PCDHA11	56138	broad.mit.edu	37	chr5	140248808	140248808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctcggaggaggccaaAcacggcaccttcgtgggccg	14	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140248808A>C	uc003lia.2	+	1	978	c.120A>C	c.(118-120)AAA>AAC	p.K40N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.K40N	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	40	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGGCCAAACACGGCACCT	0.667													C	140248808	A	C	140248808	3	2	269	1	0	0	0	0	1	0	0	0	11521	40	2	5	122	5	PCDHA11	5	140248808	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	11789	140248808	40666452	298	132946											
PCDHB16	57717	broad.mit.edu	37	chr5	140563353	140563353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacaccttggtaacggagAgagcactcgacagagaagca	11	9	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140563353A>G	uc003liv.2	+	1	2374	c.1219A>G	c.(1219-1221)AGA>GGA	p.R407G	PCDHB16_uc010jfw.1_Missense_Mutation_p.R79G	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	407	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTAACGGAGAGAGCACTCGA	0.463													G	140563353	A	G	140563353	3	3	269	1	0	0	0	0	1	0	0	0	11541	296	11	3	1221	3	PCDHB16	5	140563353	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	314545	140563353	40351907	299	132947											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768378	140768378	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacattagattttgaagaAgtcaaagaatattccatagt	6	4	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:140768378A>C	uc003lkc.1	+	1	927	c.927A>C	c.(925-927)GAA>GAC	p.E309D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E309D	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	309	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAAGAAGTCAAAGAAT	0.403													C	140768378	A	C	140768378	3	2	269	1	0	0	0	0	1	0	0	0	11565	69	3	5	929	5	PCDHGB4	5	140768378	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	205025	140768378	40146882	300	132948											
CSF1R	1436	broad.mit.edu	37	chr5	149457791	149457791	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggcaccagtgtcaAggctgggggccctgggatga	16	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:149457791A>C	uc003lrl.2	-	4	808	c.613T>G	c.(613-615)TTG>GTG	p.L205V	CSF1R_uc011dcd.1_Missense_Mutation_p.L57V|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.L205V|CSF1R_uc011dce.1_Missense_Mutation_p.L205V|CSF1R_uc011dcf.1_Missense_Mutation_p.L205V	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	205	Extracellular (Potential).|Ig-like C2-type 3.				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			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACCAGTGTCAAGGCTGGGGGC	0.597													C	149457791	A	C	149457791	3	2	269	1	0	0	0	0	1	0	0	0	3932	69	3	5	2377	5	CSF1R	5	149457791	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8689413	149457791	31457469	301	132949											
FAT2	2196	broad.mit.edu	37	chr5	150948213	150948213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtccttattcttaggaAgcagaagttgcccaccacat	7	11	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:150948213A>C	uc003lue.3	-	1	293	c.280T>G	c.(280-282)TTC>GTC	p.F94V	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.F94V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	94	Extracellular (Potential).|Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCTTAGGAAGCAGAAGTTG	0.512													C	150948213	A	C	150948213	3	2	269	1	0	0	0	0	1	0	0	0	5690	72	3	5	12861	5	FAT2	5	150948213	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1490422	150948213	29967047	302	132950											
KIF4B	285643	broad.mit.edu	37	chr5	154394999	154394999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgtctaaggaggtggTtgagttgaataacgcccttg	13	6	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:154394999T>C	uc010jih.1	+	1	1740	c.1580T>C	c.(1579-1581)GTT>GCT	p.V527A		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	527	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGGAGGTGGTTGAGTTGAAT	0.473													C	154394999	T	C	154394999	3	2	269	1	0	0	0	0	1	0	0	0	8304	1725	60	3	1582	3	KIF4B	5	154394999	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3446786	154394999	26520261	303	132951											
CYFIP2	26999	broad.mit.edu	37	chr5	156752563	156752563	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggagttaaccatgggccgAcgaatccagttccccatcga	10	13	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:156752563A>T	uc003lwq.2	+	19	2037	c.1899A>T	c.(1897-1899)CGA>CGT	p.R633R	CYFIP2_uc011ddn.1_Silent_p.R607R|CYFIP2_uc011ddo.1_Silent_p.R437R|CYFIP2_uc003lwr.2_Silent_p.R633R|CYFIP2_uc003lws.2_Silent_p.R633R|CYFIP2_uc003lwt.2_Silent_p.R536R|CYFIP2_uc011ddp.1_Silent_p.R367R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	658					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			CCATGGGCCGACGAATCCAGT	0.517													T	156752563	A	T	156752563	2	4	269	1	0	0	0	0	0	0	0	1	4138	262	10	5		5	CYFIP2	5	156752563	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2357564	156752563	24162697	304	132952											
DOCK2	1794	broad.mit.edu	37	chr5	169141079	169141079	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcatacctgacccttccTtcttatcgacaccatgtgga	7	14	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:169141079T>G	uc003maf.2	+	18	1787	c.1707T>G	c.(1705-1707)CCT>CCG	p.P569P	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.P61P|DOCK2_uc010jjl.1_Silent_p.P87P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	569	DHR-1.				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			ovary(5)|pancreas(2)	7	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)			TGACCCTTCCTTCTTATCGAC	0.562													G	169141079	T	G	169141079	2	3	269	1	0	0	0	0	0	0	0	1	4687	1596	56	5		5	DOCK2	5	169141079	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12388516	169141079	11774181	305	132953											
KCNMB1	3779	broad.mit.edu	37	chr5	169810813	169810813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcctggtccctgatgTtggtctcaatcaggtggcac	11	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:169810813T>G	uc003maq.1	-	3	576	c.176A>C	c.(175-177)AAC>ACC	p.N59T	KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Missense_Mutation_p.N59T	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	59	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTCCCTGATGTTGGTCTCAAT	0.572													G	169810813	T	G	169810813	3	3	269	1	0	0	0	0	1	0	0	0	8074	1725	60	5	407	5	KCNMB1	5	169810813	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	669734	169810813	11104447	306	132954											
UBTD2	92181	broad.mit.edu	37	chr5	171638907	171638907	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacatagtcctttgggatcTtcagctcttcgaacttcatt	6	11	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:171638907T>A	uc003mbp.1	-	3	758	c.632A>T	c.(631-633)AAG>ATG	p.K211M		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	211	Ubiquitin-like.					cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTGGGATCTTCAGCTCTTC	0.507													A	171638907	T	A	171638907	3	1	269	1	0	0	0	0	1	0	0	0	16905	1609	56	5	76	5	UBTD2	5	171638907	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1828094	171638907	9276353	307	132955											
ZNF354C	30832	broad.mit.edu	37	chr5	178505885	178505885	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgatagattcgcatgAgaaaaccatcagtgaagatg	9	6	1	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr5:178505885A>T	uc003mju.2	+	5	567	c.452A>T	c.(451-453)GAG>GTG	p.E151V		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		GATTCGCATGAGAAAACCATC	0.388													T	178505885	A	T	178505885	3	4	269	1	0	0	0	0	1	0	0	0	17863	304	11	5	466	5	ZNF354C	5	178505885	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	6866978	178505885	2409375	308	132956											
EXOC2	55770	broad.mit.edu	37	chr6	564622	564622	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccgtactgcttggcTtccccatcccggatgctgag	10	16	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:564622T>G	uc003mtd.2	-	15	1724	c.1590A>C	c.(1588-1590)GAA>GAC	p.E530D	EXOC2_uc003mte.2_Missense_Mutation_p.E530D|EXOC2_uc011dho.1_Missense_Mutation_p.E125D	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	530					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	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)		ACTGCTTGGCTTCCCCATCCC	0.557													G	564622	T	G	564622	3	3	269	1	0	0	0	0	1	0	0	0	5302	1606	56	5	1240	5	EXOC2	6	564622	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		564622	170550445	309	132957											
KIAA0319	9856	broad.mit.edu	37	chr6	24596784	24596784	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgattctggtggtttccaAgttaggtgaaatgactgcat	11	6	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:24596784A>C	uc011djo.1	-	3	355	c.118T>G	c.(118-120)TTG>GTG	p.L40V	KIAA0319_uc011djp.1_5'UTR|KIAA0319_uc003neh.1_Missense_Mutation_p.L40V|KIAA0319_uc011djq.1_Missense_Mutation_p.L31V|KIAA0319_uc011djr.1_Missense_Mutation_p.L40V	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	40	MANSC.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						GTGGTTTCCAAGTTAGGTGAA	0.522													C	24596784	A	C	24596784	3	2	269	1	0	0	0	0	1	0	0	0	8168	69	3	5	3176	5	KIAA0319	6	24596784	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	24032162	24596784	146518283	310	132958											
OR14J1	442191	broad.mit.edu	37	chr6	29274471	29274471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcagagagactatggTcaatttgacttcaatgagtg	9	6	4	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:29274471T>G	uc011dln.1	+	1	5	c.5T>G	c.(4-6)GTC>GGC	p.V2G		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAGACTATGGTCAATTTGACT	0.388													G	29274471	T	G	29274471	3	3	269	1	0	0	0	0	1	0	0	0	10948	1667	58	5	7	5	OR14J1	6	29274471	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4677687	29274471	141840596	311	132959											
OR2H2	7932	broad.mit.edu	37	chr6	29555920	29555920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccaacctctccttcTtggacctctgtttcaccacg	4	18	5	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:29555920T>G	uc003nmr.1	+	1	238	c.199T>G	c.(199-201)TTG>GTG	p.L67V	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	67	Helical; Name=2; (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTCTCCTTCTTGGACCTCTG	0.532													G	29555920	T	G	29555920	3	3	269	1	0	0	0	0	1	0	0	0	11002	1606	56	5	201	5	OR2H2	6	29555920	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	281449	29555920	141559147	312	132960											
GABBR1	2550	broad.mit.edu	37	chr6	29581264	29581264	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaattcctgggatgtcTtgggaggaaaaaatcatgag	11	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:29581264T>A	uc003nmt.3	-	12	1660	c.1324_splice	c.e12-1	p.T442_splice	GABBR1_uc003nmp.3_Splice_Site_p.T325_splice|GABBR1_uc003nms.3_Splice_Site_p.T325_splice|GABBR1_uc003nmu.3_Splice_Site_p.T380_splice|GABBR1_uc011dlr.1_Splice_Site_p.T265_splice|GABBR1_uc011dls.1_Splice_Site_p.T442_splice	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1						gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CTGGGATGTCTTGGGAGGAAA	0.493													A	29581264	T	A	29581264	5	1	269	1	0	0	0	0	0	0	1	0	6155	1623	56	5	1611	5	GABBR1	6	29581264	Splice_Site	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	25344	29581264	141533803	313	132961											
RNF39	80352	broad.mit.edu	37	chr6	30039131	30039131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcccacaggcggccgccGcggccctccacggcccacac	13	21	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:30039131G>A	uc003npe.2	-	4	1082	c.1020C>T	c.(1018-1020)CGC>CGT	p.R340R	RNF39_uc003npd.2_Intron	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	340	B30.2/SPRY.					cytoplasm	zinc ion binding				0						GGCGGCCGCCGCGGCCCTCCA	0.741													A	30039131	G	A	30039131	2	1	269	1	0	0	0	0	0	0	0	1	13491	1074	38	1		1	RNF39	6	30039131	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	457867	30039131	141075936	314	132962											
PRR3	80742	broad.mit.edu	37	chr6	30529893	30529893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaggatgacccccaggTtatggaaggtgaggtccatt	13	10	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:30529893T>C	uc003nqi.1	+	3	818	c.452T>C	c.(451-453)GTT>GCT	p.V151A	PRR3_uc003nqj.1_Missense_Mutation_p.V130A	NM_025263	NP_079539	P79522	PRR3_HUMAN	proline-rich protein 3 isoform a	151							nucleic acid binding|zinc ion binding				0						GACCCCCAGGTTATGGAAGGT	0.473													C	30529893	T	C	30529893	3	2	269	1	0	0	0	0	1	0	0	0	12598	1725	60	3	462	3	PRR3	6	30529893	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	490762	30529893	140585174	315	132963											
ABCF1	23	broad.mit.edu	37	chr6	30545225	30545225	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaggacaagaagatcaAaaaaacggtgagaaaatgag	12	3	1	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:30545225A>C	uc003nql.2	+	2	208	c.113A>C	c.(112-114)AAA>ACA	p.K38T	ABCF1_uc003nqk.2_Missense_Mutation_p.K38T|ABCF1_uc003nqm.2_Missense_Mutation_p.K38T|ABCF1_uc010jsb.2_Missense_Mutation_p.K38T	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	38					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						AAGAAGATCAAAAAAACGGTG	0.428													C	30545225	A	C	30545225	3	2	269	1	0	0	0	0	1	0	0	0	65	14	1	5	119	5	ABCF1	6	30545225	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	15332	30545225	140569842	316	132964											
VARS	7407	broad.mit.edu	37	chr6	31747777	31747777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgctccttctcaccaAgtagacatcacagagctcat	7	14	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:31747777A>G	uc003nxe.2	-	26	3502	c.3079T>C	c.(3079-3081)TTG>CTG	p.L1027L	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1027					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CTTCTCACCAAGTAGACATCA	0.602													G	31747777	A	G	31747777	2	3	269	1	0	0	0	0	0	0	0	1	17120	69	3	3		3	VARS	6	31747777	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1202552	31747777	139367290	317	132965											
HSPA1L	3305	broad.mit.edu	37	chr6	31779492	31779492	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagtttcatatctgcTtgtacaacaggatcattaaa	7	8	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:31779492T>C	uc003nxh.2	-	2	441	c.258A>G	c.(256-258)CAA>CAG	p.Q86Q	HSPA1L_uc010jte.2_Silent_p.Q86Q	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	86					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						TCATATCTGCTTGTACAACAG	0.443													C	31779492	T	C	31779492	2	2	269	1	0	0	0	0	0	0	0	1	7410	1606	56	3		3	HSPA1L	6	31779492	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	31715	31779492	139335575	318	132966											
GPSM3	63940	broad.mit.edu	37	chr6	32159496	32159496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcttacctggtgactgAggatagtgctgtaaagctgt	13	6	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:32159496A>T	uc003oay.3	-	3	728	c.335T>A	c.(334-336)CTC>CAC	p.L112H	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.L89H|GPSM3_uc003oaz.2_Missense_Mutation_p.L112H	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	112	GoLoco 2.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTGGTGACTGAGGATAGTGCT	0.592													T	32159496	A	T	32159496	3	4	269	1	0	0	0	0	1	0	0	0	6736	304	11	5	155	5	GPSM3	6	32159496	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	380004	32159496	138955571	319	132967											
ITPR3	3710	broad.mit.edu	37	chr6	33662849	33662849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcactgcccagctcaacgAgctcaaggagcaggtgtgca	11	14	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:33662849A>G	uc011drk.1	+	57	8153	c.7934A>G	c.(7933-7935)GAG>GGG	p.E2645G	C6orf125_uc003oez.1_RNA	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2645	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CAGCTCAACGAGCTCAAGGAG	0.607													G	33662849	A	G	33662849	3	3	269	1	0	0	0	0	1	0	0	0	7922	304	11	3	8160	3	ITPR3	6	33662849	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1503353	33662849	137452218	320	132968											
GRM4	2914	broad.mit.edu	37	chr6	34059816	34059816	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccacgcgggagaagaAgtcgtagcggctgttgtcac	16	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:34059816A>C	uc003oir.3	-	2	750	c.580T>G	c.(580-582)TTC>GTC	p.F194V	GRM4_uc011dsn.1_Missense_Mutation_p.F194V|GRM4_uc010jvh.2_Missense_Mutation_p.F194V|GRM4_uc010jvi.2_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.F113V|GRM4_uc011dsl.1_Missense_Mutation_p.F54V|GRM4_uc003oiq.2_Missense_Mutation_p.F61V|GRM4_uc011dsm.1_Missense_Mutation_p.F25V	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	194	Extracellular (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CGGGAGAAGAAGTCGTAGCGG	0.637													C	34059816	A	C	34059816	3	2	269	1	0	0	0	0	1	0	0	0	6799	72	3	5	2194	5	GRM4	6	34059816	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	396967	34059816	137055251	321	132969											
TAF11	6882	broad.mit.edu	37	chr6	34846436	34846436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactttaaccttctaacggcTtccctcatatgtttgggttg	8	10	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:34846436T>G	uc003ojw.1	-	5	652	c.567A>C	c.(565-567)GAA>GAC	p.E189D	UHRF1BP1_uc010jvm.1_Intron|TAF11_uc011dsr.1_3'UTR	NM_005643	NP_005634	Q15544	TAF11_HUMAN	TBP-associated factor 11	189					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0						TTCTAACGGCTTCCCTCATAT	0.423													G	34846436	T	G	34846436	3	3	269	1	0	0	0	0	1	0	0	0	15512	1606	56	5	72	5	TAF11	6	34846436	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	786620	34846436	136268631	322	132970											
KIAA0240	23506	broad.mit.edu	37	chr6	42823647	42823647	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgaaacagctaacgaaAggagctttgtgagttactct	11	8	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:42823647A>C	uc003osn.1	+	9	2251	c.2100A>C	c.(2098-2100)AAA>AAC	p.K700N	KIAA0240_uc011duw.1_Missense_Mutation_p.K700N|KIAA0240_uc003osp.1_Missense_Mutation_p.K700N	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	700										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AGCTAACGAAAGGAGCTTTGT	0.378													C	42823647	A	C	42823647	3	2	269	1	0	0	0	0	1	0	0	0	8164	69	3	5	2126	5	KIAA0240	6	42823647	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7977211	42823647	128291420	323	132971											
CUL9	23113	broad.mit.edu	37	chr6	43163991	43163991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccgtgatcctgatgcTgaatactgaggggtcagggc	15	9	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:43163991T>C	uc003ouk.2	+	10	2648	c.2573T>C	c.(2572-2574)CTG>CCG	p.L858P	CUL9_uc003oul.2_Missense_Mutation_p.L858P|CUL9_uc010jyk.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	858					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						ATCCTGATGCTGAATACTGAG	0.577													C	43163991	T	C	43163991	3	2	269	1	0	0	0	0	1	0	0	0	4061	1580	55	3	2607	3	CUL9	6	43163991	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	340344	43163991	127951076	324	132972											
POLR1C	9533	broad.mit.edu	37	chr6	43488378	43488378	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcaaagatcatgccaAgttttcaccagtggcaacag	9	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:43488378A>C	uc003ovn.2	+	7	728	c.671A>C	c.(670-672)AAG>ACG	p.K224T	POLR1C_uc003ovo.1_Missense_Mutation_p.K224T	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	224					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				0	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)			GATCATGCCAAGTTTTCACCA	0.527													C	43488378	A	C	43488378	3	2	269	1	0	0	0	0	1	0	0	0	12211	72	3	5	697	5	POLR1C	6	43488378	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	324387	43488378	127626689	325	132973											
CDC5L	988	broad.mit.edu	37	chr6	44392215	44392215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcctgcccctaagaaTgattttgaaattgttctacc	7	11	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:44392215T>C	uc003oxl.2	+	11	1723	c.1464T>C	c.(1462-1464)AAT>AAC	p.N488N		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	488	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			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCCTAAGAATGATTTTGAAA	0.418													C	44392215	T	C	44392215	2	2	269	1	0	0	0	0	0	0	0	1	3082	1461	51	3		3	CDC5L	6	44392215	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	903837	44392215	126722852	326	132974											
CYP39A1	51302	broad.mit.edu	37	chr6	46563772	46563772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaatgacaccaggagcTtttaaacgaatggtttccaa	8	8	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:46563772T>G	uc003oyf.1	-	8	1221	c.1017A>C	c.(1015-1017)AAA>AAC	p.K339N	CYP39A1_uc011dwa.1_Missense_Mutation_p.K319N|CYP39A1_uc010jzd.1_Missense_Mutation_p.K167N	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	339					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			ovary(1)	1						CACCAGGAGCTTTTAAACGAA	0.343													G	46563772	T	G	46563772	3	3	269	1	0	0	0	0	1	0	0	0	4177	1606	56	5	412	5	CYP39A1	6	46563772	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2171557	46563772	124551295	327	132975											
PGK2	5232	broad.mit.edu	37	chr6	49754349	49754349	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaagaatccggatgcTttatggggcagattcactcc	9	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:49754349T>G	uc003ozu.2	-	1	659	c.552A>C	c.(550-552)AAA>AAC	p.K184N		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	184					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					ATCCGGATGCTTTATGGGGCA	0.483													G	49754349	T	G	49754349	3	3	269	1	0	0	0	0	1	0	0	0	11791	1606	56	5	705	5	PGK2	6	49754349	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3190577	49754349	121360718	328	132976											
DEFB112	245915	broad.mit.edu	37	chr6	50011385	50011385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacattctgtcacgcagCaatgagttgtaggtcttgca	11	9	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:50011385C>A	uc011dws.1	-	2	245	c.245G>T	c.(244-246)TGC>TTC	p.C82F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	82					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					TGTCACGCAGCAATGAGTTGT	0.428													A	50011385	C	A	50011385	3	1	269	1	0	0	0	0	1	0	0	0	4401	710	25	5	99	5	DEFB112	6	50011385	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	257036	50011385	121103682	329	132977											
GSTA1	2938	broad.mit.edu	37	chr6	52657694	52657694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agataagactggagtcaagcTcctcgacgtagtagagaagt	12	7	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:52657694T>C	uc003paz.2	-	6	618	c.506A>G	c.(505-507)GAG>GGG	p.E169G		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	169	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGAGTCAAGCTCCTCGACGTA	0.517													C	52657694	T	C	52657694	3	2	269	1	0	0	0	0	1	0	0	0	6830	1551	54	3	170	3	GSTA1	6	52657694	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2646309	52657694	118457373	330	132978											
BAI3	577	broad.mit.edu	37	chr6	69640552	69640552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgctgctaaatttatgGcacaaactggtaatacgtta	8	7	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:69640552G>A	uc003pev.3	+	4	1307	c.859G>A	c.(859-861)GCA>ACA	p.A287T	BAI3_uc010kak.2_Missense_Mutation_p.A287T	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	287	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TAAATTTATGGCACAAACTGG	0.348													A	69640552	G	A	69640552	3	1	269	1	0	0	0	0	1	0	0	0	1300	1203	42	2	865	2	BAI3	6	69640552	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	16982858	69640552	101474515	331	132979											
LCA5	167691	broad.mit.edu	37	chr6	80196883	80196883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgatctctgctgccTttattcccagggagaaaatt	8	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:80196883T>G	uc003pix.2	-	8	2367	c.1932A>C	c.(1930-1932)AAA>AAC	p.K644N	LCA5_uc003piy.2_Missense_Mutation_p.K644N	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	644					protein transport	cilium axoneme|microtubule basal body	protein binding				0		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)		CTCTGCTGCCTTTATTCCCAG	0.428													G	80196883	T	G	80196883	3	3	269	1	0	0	0	0	1	0	0	0	8656	1606	56	5	165	5	LCA5	6	80196883	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	10556331	80196883	90918184	332	132980											
KIAA1009	22832	broad.mit.edu	37	chr6	84879083	84879084	+	Frame_Shift_Ins	INS	-	-	T													ctgctaacagatctgtaaaaINSttctgatttcttgtgggctc							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:84879083_84879084insT	uc010kbp.2	-	18	2445_2446	c.2348_2349insA	c.(2347-2349)AATfs	p.N783fs	KIAA1009_uc003pkj.3_Frame_Shift_Ins_p.N707fs|KIAA1009_uc003pki.3_Frame_Shift_Ins_p.N169fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	783	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		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)		GATCTGTAAAATTCTGATTTCT	0.317													T	84879084	-	T	84879083	7	5	269	1	0	1	1	0	0	0	0	0	8203	98	4	0	1902	0	KIAA1009	6	84879083	Frame_Shift_Ins	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	4682200	84879083	86235984	333	132981											
LIN28B	389421	broad.mit.edu	37	chr6	105526475	105526475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccagccatgcacttcaacTctccctcgagaagtgggagg	10	14	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:105526475T>C	uc003pqv.1	+	4	773	c.570T>C	c.(568-570)ACT>ACC	p.T190T	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	190					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				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GCACTTCAACTCTCCCTCGAG	0.557													C	105526475	T	C	105526475	2	2	269	1	0	0	0	0	0	0	0	1	8806	1538	54	3		3	LIN28B	6	105526475	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	20647392	105526475	65588592	334	132982											
POPDC3	64208	broad.mit.edu	37	chr6	105609491	105609491	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggttatgctgcgaacTtgatatgcaatatgaacaaa	9	6	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:105609491T>G	uc003prb.2	-	2	696	c.294A>C	c.(292-294)CAA>CAC	p.Q98H	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	98	Helical; (Potential).					integral to membrane				skin(3)|ovary(2)	5		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)				TGCTGCGAACTTGATATGCAA	0.448													G	105609491	T	G	105609491	3	3	269	1	0	0	0	0	1	0	0	0	12256	1606	56	5	593	5	POPDC3	6	105609491	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	83016	105609491	65505576	335	132983											
DDO	8528	broad.mit.edu	37	chr6	110734556	110734556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtatctggagtaaacTtgtctgaaatgatggtaacg	13	4	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:110734556T>G	uc003puc.2	-	2	198	c.194A>C	c.(193-195)AAG>ACG	p.K65T	C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.K65T	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	37	FAD (By similarity).				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		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)		TGGAGTAAACTTGTCTGAAAT	0.517													G	110734556	T	G	110734556	3	3	269	1	0	0	0	0	1	0	0	0	4334	1609	56	5	931	5	DDO	6	110734556	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5125065	110734556	60380511	336	132984											
LAMA4	3910	broad.mit.edu	37	chr6	112460474	112460474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtaactggcagcccgactctGagtgaaggccagcttatctc	11	12	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:112460474G>T	uc003pvu.2	-	24	3439	c.3130C>A	c.(3130-3132)CAG>AAG	p.Q1044K	LAMA4_uc003pvv.2_Missense_Mutation_p.Q1037K|LAMA4_uc003pvt.2_Missense_Mutation_p.Q1037K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1044					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		GCCCGACTCTGAGTGAAGGCC	0.463													T	112460474	G	T	112460474	3	4	269	1	0	0	0	0	1	0	0	0	8608	1299	45	5	2405	5	LAMA4	6	112460474	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1725918	112460474	58654593	337	132985											
RFX6	222546	broad.mit.edu	37	chr6	117232144	117232144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctcaaaaactggaacacTtcttccagaattccccagcg	6	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:117232144T>G	uc003pxm.2	+	7	782	c.719T>G	c.(718-720)CTT>CGT	p.L240R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	240					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			ovary(1)|pancreas(1)|skin(1)	3						ACTGGAACACTTCTTCCAGAA	0.348													G	117232144	T	G	117232144	3	3	269	1	0	0	0	0	1	0	0	0	13267	1609	56	5	745	5	RFX6	6	117232144	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4771670	117232144	53882923	338	132986											
RFX6	222546	broad.mit.edu	37	chr6	117240445	117240445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacgacaaacatctttcTtacatcttgcccaggtatgt	6	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:117240445T>G	uc003pxm.2	+	11	1231	c.1168T>G	c.(1168-1170)TTA>GTA	p.L390V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	390					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			ovary(1)|pancreas(1)|skin(1)	3						AACATCTTTCTTACATCTTGC	0.333													G	117240445	T	G	117240445	3	3	269	1	0	0	0	0	1	0	0	0	13267	1606	56	5	1210	5	RFX6	6	117240445	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8301	117240445	53874622	339	132987											
LAMA2	3908	broad.mit.edu	37	chr6	129748963	129748963	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagaaaagcttcaggattCttaacgaagccaagaagtta	8	7	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:129748963C>A	uc003qbn.2	+	41	6037	c.5932C>A	c.(5932-5934)CTT>ATT	p.L1978I	LAMA2_uc003qbo.2_Missense_Mutation_p.L1978I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1978	Domain II and I.|Potential.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTCAGGATTCTTAACGAAGC	0.373													A	129748963	C	A	129748963	3	1	269	1	0	0	0	0	1	0	0	0	8606	913	32	5	6094	5	LAMA2	6	129748963	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	12508518	129748963	41366104	340	132988											
ENPP3	5169	broad.mit.edu	37	chr6	132047242	132047242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctagggtactgcagaagAacgtggaccactgtctcctt	12	11	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:132047242A>G	uc003qcu.3	+	21	2202	c.1855A>G	c.(1855-1857)AAC>GAC	p.N619D	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.N619D	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	619	Extracellular (Potential).|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			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACTGCAGAAGAACGTGGACCA	0.408													G	132047242	A	G	132047242	3	3	269	1	0	0	0	0	1	0	0	0	5131	246	9	3	1933	3	ENPP3	6	132047242	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2298279	132047242	39067825	341	132989											
TAAR5	9038	broad.mit.edu	37	chr6	132910580	132910580	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaccagcagacccagAaacatgtcagccagggccag	12	14	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:132910580A>G	uc003qdk.2	-	1	298	c.246T>C	c.(244-246)TTT>TTC	p.F82F		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	82	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCAGACCCAGAAACATGTCAG	0.582													G	132910580	A	G	132910580	2	3	269	1	0	0	0	0	0	0	0	1	15488	243	9	3		3	TAAR5	6	132910580	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	863338	132910580	38204487	342	132990											
VNN1	8876	broad.mit.edu	37	chr6	133015209	133015209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaacggccatcagggggacActgaggatcactggtatcgc	14	10	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:133015209A>C	uc003qdo.2	-	3	474	c.454T>G	c.(454-456)TGT>GGT	p.C152G		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	152	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			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TCAGGGGGACACTGAGGATCA	0.443													C	133015209	A	C	133015209	3	2	269	1	0	0	0	0	1	0	0	0	17179	159	6	5	1107	5	VNN1	6	133015209	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	104629	133015209	38099858	343	132991											
HBS1L	10767	broad.mit.edu	37	chr6	135287535	135287535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacctccccagctctttaaAgtctttatatagctcaagag	6	11	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:135287535A>C	uc003qez.2	-	17	2182	c.1975T>G	c.(1975-1977)TTT>GTT	p.F659V	HBS1L_uc003qey.2_Missense_Mutation_p.F495V|HBS1L_uc011ecy.1_Missense_Mutation_p.F383V|HBS1L_uc011ecz.1_Missense_Mutation_p.F495V|HBS1L_uc011eda.1_Missense_Mutation_p.F617V	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	659					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGCTCTTTAAAGTCTTTATAT	0.363													C	135287535	A	C	135287535	3	2	269	1	0	0	0	0	1	0	0	0	6987	72	3	5	87	5	HBS1L	6	135287535	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2272326	135287535	35827532	344	132992											
PEX7	5191	broad.mit.edu	37	chr6	137187842	137187842	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacatcaggcagaaatcTtgagttgtgactggtgtaaa	11	7	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:137187842T>G	uc003qhd.2	+	6	706	c.604T>G	c.(604-606)TTG>GTG	p.L202V	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	202	WD 4.				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GGCAGAAATCTTGAGTTGTGA	0.393													G	137187842	T	G	137187842	3	3	269	1	0	0	0	0	1	0	0	0	11751	1606	56	5	626	5	PEX7	6	137187842	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1900307	137187842	33927225	345	132993											
KIAA1244	57221	broad.mit.edu	37	chr6	138576856	138576856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctaccaccgagtgctgCtctaccccccaccccagcac	5	23	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:138576856C>T	uc003qhu.2	+	10	1054	c.1054C>T	c.(1054-1056)CTC>TTC	p.L352F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	352					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCGAGTGCTGCTCTACCCCCC	0.602													T	138576856	C	T	138576856	3	4	269	1	0	0	0	0	1	0	0	0	8217	797	28	2	1092	2	KIAA1244	6	138576856	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	1389014	138576856	32538211	346	132994											
C6orf72	116254	broad.mit.edu	37	chr6	149901803	149901803	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtagatgaagatgttTtacctggcaagttacctgaa	9	8	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:149901803T>G	uc003qmq.1	+	6	688	c.661T>G	c.(661-663)TTA>GTA	p.L221V	C6orf72_uc010kie.1_Missense_Mutation_p.L101V	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	hypothetical protein LOC116254 precursor	221	Extracellular (Potential).					integral to membrane					0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		TGAAGATGTTTTACCTGGCAA	0.408													G	149901803	T	G	149901803	3	3	269	1	0	0	0	0	1	0	0	0	2371	1838	64	5	683	5	C6orf72	6	149901803	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	11324947	149901803	21213264	347	132995											
SYNE1	23345	broad.mit.edu	37	chr6	152719782	152719782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggagctttgcttctagaActttgctgtcaccggtgcga	11	10	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:152719782A>C	uc010kiw.2	-	49	7924	c.7322T>G	c.(7321-7323)GTT>GGT	p.V2441G	SYNE1_uc003qot.3_Missense_Mutation_p.V2448G|SYNE1_uc003qou.3_Missense_Mutation_p.V2441G|SYNE1_uc010kjb.1_Missense_Mutation_p.V2424G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2441	Spectrin 4.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTCTAGAACTTTGCTGTC	0.433										HNSCC(10;0.0054)			C	152719782	A	C	152719782	3	2	269	1	0	0	0	0	1	0	0	0	15442	43	2	5	19536	5	SYNE1	6	152719782	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2817979	152719782	18395285	348	132996											
SYNE1	23345	broad.mit.edu	37	chr6	152793444	152793444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattctcttacctctcggcCatgtcctctaattgatcagg	6	12	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:152793444C>T	uc010kiw.2	-	15	2057	c.1455G>A	c.(1453-1455)ATG>ATA	p.M485I	SYNE1_uc003qot.3_Missense_Mutation_p.M492I|SYNE1_uc003qou.3_Missense_Mutation_p.M485I|SYNE1_uc010kjb.1_Missense_Mutation_p.M468I|SYNE1_uc003qpa.1_Missense_Mutation_p.M485I|SYNE1_uc003qox.1_Missense_Mutation_p.M1I|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Missense_Mutation_p.M52I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	485	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTCTCGGCCATGTCCTCTA	0.383										HNSCC(10;0.0054)			T	152793444	C	T	152793444	3	4	269	1	0	0	0	0	1	0	0	0	15442	594	21	4	25539	4	SYNE1	6	152793444	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	73662	152793444	18321623	349	132997											
TIAM2	26230	broad.mit.edu	37	chr6	155500529	155500529	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtttatgatgaaatagaAgtctttccactaaatgttta	7	5	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:155500529A>C	uc003qqb.2	+	14	3919	c.2646A>C	c.(2644-2646)GAA>GAC	p.E882D	TIAM2_uc003qqe.2_Missense_Mutation_p.E882D|TIAM2_uc010kjj.2_Missense_Mutation_p.E415D|TIAM2_uc003qqf.2_Missense_Mutation_p.E258D|TIAM2_uc011efl.1_Missense_Mutation_p.E218D|TIAM2_uc003qqg.2_Missense_Mutation_p.E194D	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	882					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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATGAAATAGAAGTCTTTCCAC	0.368													C	155500529	A	C	155500529	3	2	269	1	0	0	0	0	1	0	0	0	15888	69	3	5	2680	5	TIAM2	6	155500529	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2707085	155500529	15614538	350	132998											
EZR	7430	broad.mit.edu	37	chr6	159205739	159205739	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccactggtccctggtaAgtttgtgctggtccatcact	9	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:159205739A>C	uc003qrt.3	-	5	703	c.488T>G	c.(487-489)CTT>CGT	p.L163R	EZR_uc011efs.1_Missense_Mutation_p.L131R|EZR_uc003qru.3_Missense_Mutation_p.L163R	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	163	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GTCCCTGGTAAGTTTGTGCTG	0.542													C	159205739	A	C	159205739	3	2	269	1	0	0	0	0	1	0	0	0	5335	72	3	5	1308	5	EZR	6	159205739	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3705210	159205739	11909328	351	132999											
LPA	4018	broad.mit.edu	37	chr6	161007491	161007491	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttaccttcttcagaAggaagctctgtgcttggaac	10	10	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:161007491A>C	uc003qtl.2	-	26	4239	c.4119T>G	c.(4117-4119)CCT>CCG	p.P1373P		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3881	Kringle 34.				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			ovary(3)|skin(2)|pancreas(1)	6		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)	CTTCTTCAGAAGGAAGCTCTG	0.478													C	161007491	A	C	161007491	2	2	269	1	0	0	0	0	0	0	0	1	8903	59	3	5		5	LPA	6	161007491	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1801752	161007491	10107576	352	133000											
SMOC2	64094	broad.mit.edu	37	chr6	168999604	168999604	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggcggcctctacaagccAgtgcagtgccacccctccac	9	19	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr6:168999604A>G	uc003qws.1	+	8	764	c.744A>G	c.(742-744)CCA>CCG	p.P248P	SMOC2_uc003qwr.1_Silent_p.P259P	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	248	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TCTACAAGCCAGTGCAGTGCC	0.632													G	168999604	A	G	168999604	2	3	269	1	0	0	0	0	0	0	0	1	14802	175	7	3		3	SMOC2	6	168999604	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7992113	168999604	2115463	353	133001											
PMS2	5395	broad.mit.edu	37	chr7	6026456	6026456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatctttgccctaaacTtcctgtaattctgttcccct	4	13	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:6026456T>G	uc003spl.2	-	11	2027	c.1940A>C	c.(1939-1941)AAG>ACG	p.K647T	PMS2_uc003spj.2_Missense_Mutation_p.K541T|PMS2_uc003spk.2_Missense_Mutation_p.K512T|PMS2_uc011jwl.1_Missense_Mutation_p.K512T|PMS2_uc010ktg.2_Missense_Mutation_p.K336T|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	647					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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGCCCTAAACTTCCTGTAATT	0.353			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				G	6026456	T	G	6026456	3	3	269	1	0	0	0	0	1	0	0	0	12143	1609	56	5	668	5	PMS2	7	6026456	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		6026456	153112207	354	133002											
DNAH11	8701	broad.mit.edu	37	chr7	21628926	21628926	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatctataatgaatggaaaAgtaatgtggatgaaatctgt	10	2	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:21628926A>C	uc003svc.2	+	12	2105	c.2074A>C	c.(2074-2076)AGT>CGT	p.S692R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	692	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGAATGGAAAAGTAATGTGGA	0.343									Kartagener_syndrome				C	21628926	A	C	21628926	3	2	269	1	0	0	0	0	1	0	0	0	4599	72	3	5	2120	5	DNAH11	7	21628926	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	15602470	21628926	137509737	355	133003											
FAM126A	84668	broad.mit.edu	37	chr7	23015837	23015837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttactttaccttgaacaAatttgacacagtgactgaag	6	7	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:23015837A>G	uc003svm.3	-	7	873	c.618T>C	c.(616-618)ATT>ATC	p.I206I	FAM126A_uc003svn.3_Silent_p.I62I	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	206						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						ACCTTGAACAAATTTGACACA	0.323													G	23015837	A	G	23015837	2	3	269	1	0	0	0	0	0	0	0	1	5429	10	1	3		3	FAM126A	7	23015837	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1386911	23015837	136122826	356	133004											
TRA2A	29896	broad.mit.edu	37	chr7	23545857	23545857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctccacctccaccgcCgccgcctcctccaccacccc	3	28	0	0	rs138326382		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:23545857C>T	uc003swi.2	-	6	884	c.670G>A	c.(670-672)GGC>AGC	p.G224S	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.G123S|TRA2A_uc011jzd.1_Missense_Mutation_p.G123S	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	224	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						cctccaccgccgccgcctcct	0.254													T	23545857	C	T	23545857	3	4	269	1	0	0	0	0	1	0	0	0	16430	652	23	1	190	1	TRA2A	7	23545857	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	530020	23545857	135592806	357	133005											
PDE1C	5137	broad.mit.edu	37	chr7	31912981	31912981	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgatccccactggccTcattgagggaaaagacgtca	11	11	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:31912981T>A	uc003tcm.1	-	6	1002	c.533A>T	c.(532-534)GAG>GTG	p.E178V	PDE1C_uc003tcn.1_Missense_Mutation_p.E178V|PDE1C_uc003tco.1_Missense_Mutation_p.E238V|PDE1C_uc003tcr.2_Missense_Mutation_p.E178V|PDE1C_uc003tcs.2_Missense_Mutation_p.E178V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	178					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CCCACTGGCCTCATTGAGGGA	0.448													A	31912981	T	A	31912981	3	1	269	1	0	0	0	0	1	0	0	0	11635	1551	54	5	1419	5	PDE1C	7	31912981	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8367124	31912981	127225682	358	133006											
TBX20	57057	broad.mit.edu	37	chr7	35289646	35289646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaggctgcaggcaatTttggccatttcctcactggg	11	12	2	0	rs79990622	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:35289646T>G	uc011kas.1	-	2	308	c.297A>C	c.(295-297)AAA>AAC	p.K99N		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	99						nucleus	DNA binding			central_nervous_system(1)	1						TGCAGGCAATTTTGGCCATTT	0.582													G	35289646	T	G	35289646	3	3	269	1	0	0	0	0	1	0	0	0	15653	1838	64	5	1075	5	TBX20	7	35289646	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3376665	35289646	123849017	359	133007											
ELMO1	9844	broad.mit.edu	37	chr7	36917661	36917661	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttctccctgaggactctcTtctaagtctccgtaatgcag	7	13	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:36917661T>C	uc003tfk.1	-	19	2083	c.1776A>G	c.(1774-1776)GAA>GAG	p.E592E	ELMO1_uc003tfi.1_Silent_p.E112E|ELMO1_uc003tfj.1_Silent_p.E112E|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Silent_p.E496E|ELMO1_uc010kxg.1_Silent_p.E592E	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	592	PH.				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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GAGGACTCTCTTCTAAGTCTC	0.468													C	36917661	T	C	36917661	2	2	269	1	0	0	0	0	0	0	0	1	5065	1606	56	3		3	ELMO1	7	36917661	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1628015	36917661	122221002	360	133008											
TXNDC3	51314	broad.mit.edu	37	chr7	37889886	37889886	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatggcaagcaaaaaacgAgaagtccagttacaggtggg	12	6	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:37889886A>G	uc003tfn.2	+	3	390	c.18A>G	c.(16-18)CGA>CGG	p.R6R		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	6	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GCAAAAAACGAGAAGTCCAGT	0.333									Kartagener_syndrome				G	37889886	A	G	37889886	2	3	269	1	0	0	0	0	0	0	0	1	16795	291	11	3		3	TXNDC3	7	37889886	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	972225	37889886	121248777	361	133009											
CDK13	8621	broad.mit.edu	37	chr7	40134436	40134436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actataactatggtggtaacTtacaggaaaatccgagtggc	10	7	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:40134436T>G	uc003thh.3	+	14	4678	c.4396T>G	c.(4396-4398)TTA>GTA	p.L1466V	CDK13_uc003thi.3_Missense_Mutation_p.L1406V|CDK13_uc003thj.2_Missense_Mutation_p.L517V|CDK13_uc003thk.2_Missense_Mutation_p.L399V	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1466					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			lung(2)|skin(2)|ovary(1)	5						TGGTGGTAACTTACAGGAAAA	0.507													G	40134436	T	G	40134436	3	3	269	1	0	0	0	0	1	0	0	0	3129	1606	56	5	4450	5	CDK13	7	40134436	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2244550	40134436	119004227	362	133010											
HECW1	23072	broad.mit.edu	37	chr7	43546793	43546793	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagagactttgaggccaAgctccgcaatttctacagaa	9	11	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:43546793A>C	uc003tid.1	+	22	4294	c.3689A>C	c.(3688-3690)AAG>ACG	p.K1230T	HECW1_uc011kbi.1_Missense_Mutation_p.K1196T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1230					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TTTGAGGCCAAGCTCCGCAAT	0.488													C	43546793	A	C	43546793	3	2	269	1	0	0	0	0	1	0	0	0	7042	72	3	5	3767	5	HECW1	7	43546793	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3412357	43546793	115591870	363	133011											
PKD1L1	168507	broad.mit.edu	37	chr7	47852835	47852835	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttctcagggcctccaacTtcgggactacatgtaggaat	12	10	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:47852835T>G	uc003tny.1	-	49	7230	c.7230A>C	c.(7228-7230)GAA>GAC	p.E2410D	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.E137D	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2410	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGCCTCCAACTTCGGGACTAC	0.527													G	47852835	T	G	47852835	3	3	269	1	0	0	0	0	1	0	0	0	11964	1606	56	5	1355	5	PKD1L1	7	47852835	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4306042	47852835	111285828	364	133012											
PTPN12	5782	broad.mit.edu	37	chr7	77221537	77221537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattggcctttgtatggagaAgaccccataacgtttgcacc	9	10	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:77221537A>G	uc003ugh.2	+	6	547	c.456A>G	c.(454-456)GAA>GAG	p.E152E	PTPN12_uc011kgp.1_Silent_p.E33E|PTPN12_uc011kgq.1_Silent_p.E22E	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	152	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TGTATGGAGAAGACCCCATAA	0.284													G	77221537	A	G	77221537	2	3	269	1	0	0	0	0	0	0	0	1	12781	69	3	3		3	PTPN12	7	77221537	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	29368702	77221537	81917126	365	133013											
PHTF2	57157	broad.mit.edu	37	chr7	77569864	77569864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgattactttttgcaaaacTctttggacatttaacatctg	6	8	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:77569864T>G	uc003ugs.3	+	14	1886	c.1760T>G	c.(1759-1761)CTC>CGC	p.L587R	PHTF2_uc003ugq.3_Missense_Mutation_p.L549R|PHTF2_uc010ldv.2_Missense_Mutation_p.L549R|PHTF2_uc003ugt.3_Missense_Mutation_p.L553R|PHTF2_uc003ugu.3_Missense_Mutation_p.L549R	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTTGCAAAACTCTTTGGACAT	0.323													G	77569864	T	G	77569864	3	3	269	1	0	0	0	0	1	0	0	0	11863	1551	54	5	1762	5	PHTF2	7	77569864	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	348327	77569864	81568799	366	133014											
PCLO	27445	broad.mit.edu	37	chr7	82764843	82764843	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtggctgtggggatgAtttgctcactgctgatgtag	15	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:82764843A>C	uc003uhx.2	-	3	2312	c.2023T>G	c.(2023-2025)TCA>GCA	p.S675A	PCLO_uc003uhv.2_Missense_Mutation_p.S675A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	621	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGTGGGGATGATTTGCTCACT	0.522													C	82764843	A	C	82764843	3	2	269	1	0	0	0	0	1	0	0	0	11583	333	12	5	13514	5	PCLO	7	82764843	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5194979	82764843	76373820	367	133015											
ZCWPW1	55063	broad.mit.edu	37	chr7	99999537	99999537	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagaatctgaattcccTtggccttctttccttcccat	6	13	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:99999537T>C	uc003uut.2	-	17	1847	c.1599A>G	c.(1597-1599)CAA>CAG	p.Q533Q	ZCWPW1_uc011kjq.1_Silent_p.Q413Q|ZCWPW1_uc003uur.2_Intron|ZCWPW1_uc003uus.2_Intron|ZCWPW1_uc011kjr.1_Intron|ZCWPW1_uc011kjp.1_RNA	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	533							zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGAATTCCCTTGGCCTTCTT	0.517													C	99999537	T	C	99999537	2	2	269	1	0	0	0	0	0	0	0	1	17594	1606	56	3		3	ZCWPW1	7	99999537	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	17234694	99999537	59139126	368	133016											
MUC17	140453	broad.mit.edu	37	chr7	100681013	100681013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagtcctctactaacaAgtatacctctcagcaccacg	6	13	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:100681013A>C	uc003uxp.1	+	3	6369	c.6316A>C	c.(6316-6318)AGT>CGT	p.S2106R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2106	Extracellular (Potential).|33.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACTAACAAGTATACCTCT	0.498													C	100681013	A	C	100681013	3	2	269	1	0	0	0	0	1	0	0	0	9974	72	3	5	6326	5	MUC17	7	100681013	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	681476	100681013	58457650	369	133017											
MUC17	140453	broad.mit.edu	37	chr7	100684288	100684288	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcacacctgtgaccacTtctactgaagccacttcatc	5	16	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:100684288T>G	uc003uxp.1	+	3	9644	c.9591T>G	c.(9589-9591)ACT>ACG	p.T3197T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3197	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGACCACTTCTACTGAAG	0.473													G	100684288	T	G	100684288	2	3	269	1	0	0	0	0	0	0	0	1	9974	1596	56	5		5	MUC17	7	100684288	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3275	100684288	58454375	370	133018											
CDHR3	222256	broad.mit.edu	37	chr7	105615425	105615425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcccaggatttccccAgatagtcaactcaaatcccc	6	14	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:105615425A>G	uc003vdl.3	+	2	290	c.182A>G	c.(181-183)CAG>CGG	p.Q61R	CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.Q48R|CDHR3_uc011klt.1_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	61	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GGATTTCCCCAGATAGTCAAC	0.458													G	105615425	A	G	105615425	3	3	269	1	0	0	0	0	1	0	0	0	3120	188	7	3	188	3	CDHR3	7	105615425	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4931137	105615425	53523238	371	133019											
IMMP2L	83943	broad.mit.edu	37	chr7	111161449	111161449	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcaccgccacaaagaAgcctttacaaaaggccttga	8	13	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:111161449A>G	uc003vfq.1	-	2	498	c.55T>C	c.(55-57)TTC>CTC	p.F19L	IMMP2L_uc010ljr.1_Missense_Mutation_p.F19L|IMMP2L_uc003vfr.2_Missense_Mutation_p.F19L	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane protease-like	19	Helical; (Potential).				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GCCACAAAGAAGCCTTTACAA	0.438													G	111161449	A	G	111161449	3	3	269	1	0	0	0	0	1	0	0	0	7717	72	3	3	492	3	IMMP2L	7	111161449	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5546024	111161449	47977214	372	133020											
PPP1R3A	5506	broad.mit.edu	37	chr7	113559001	113559001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagataaattaggaacTtctaaaaaattatctttgct	6	5	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:113559001T>G	uc010ljy.1	-	1	82	c.51A>C	c.(49-51)GAA>GAC	p.E17D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	17					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						AATTAGGAACTTCTAAAAAAT	0.398													G	113559001	T	G	113559001	3	3	269	1	0	0	0	0	1	0	0	0	12371	1606	56	5	3333	5	PPP1R3A	7	113559001	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2397552	113559001	45579662	373	133021											
WNT2	7472	broad.mit.edu	37	chr7	116955197	116955197	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttcctttcctttgcatcCacaaatgcgcgggcaaattt	6	13	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:116955197C>A	uc003viz.2	-	3	816	c.516G>T	c.(514-516)GTG>GTT	p.V172V	WNT2_uc003vja.2_Silent_p.V76V	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	172					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(2)|ovary(1)|lung(1)|skin(1)	7	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)		cctttGCATCCACAAATGCGC	0.433													A	116955197	C	A	116955197	2	1	269	1	0	0	0	0	0	0	0	1	17383	581	21	5		5	WNT2	7	116955197	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3396196	116955197	42183466	374	133022											
C7orf58	79974	broad.mit.edu	37	chr7	120770304	120770304	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttaaatgtatttgaacaAtttcagttcatgaataaaaa	4	4	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:120770304A>G	uc003vjq.3	+	12	1980	c.1533A>G	c.(1531-1533)CAA>CAG	p.Q511Q	C7orf58_uc003vjr.1_Silent_p.Q511Q|C7orf58_uc003vjs.3_Silent_p.Q511Q|C7orf58_uc003vjt.3_Silent_p.Q291Q|C7orf58_uc010lkk.1_Silent_p.Q291Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	511						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TATTTGAACAATTTCAGTTCA	0.363													G	120770304	A	G	120770304	2	3	269	1	0	0	0	0	0	0	0	1	2405	98	4	3		3	C7orf58	7	120770304	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3815107	120770304	38368359	375	133023											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650657	121650657	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagatatttccttgacTtctcagactgtgactgaact	7	8	1	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:121650657T>A	uc003vjy.2	+	12	1952	c.1557T>A	c.(1555-1557)ACT>ACA	p.T519T	PTPRZ1_uc003vjz.2_Silent_p.T519T|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	519	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TTTCCTTGACTTCTCAGACTG	0.403													A	121650657	T	A	121650657	2	1	269	1	0	0	0	0	0	0	0	1	12814	1596	56	5		5	PTPRZ1	7	121650657	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	880353	121650657	37488006	376	133024											
LRGUK	136332	broad.mit.edu	37	chr7	133884171	133884171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgatgaggtaatcaatgCaggttggtaattttcagcaa	10	4	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:133884171C>T	uc003vrm.1	+	14	1761	c.1745C>T	c.(1744-1746)GCA>GTA	p.A582V		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	582	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GTAATCAATGCAGGTTGGTAA	0.303													T	133884171	C	T	133884171	3	4	269	1	0	0	0	0	1	0	0	0	8943	710	25	2	1799	2	LRGUK	7	133884171	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	12233514	133884171	25254492	377	133025											
KIAA1549	57670	broad.mit.edu	37	chr7	138602902	138602902	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctagaagaaagtgggacGataggtctggaggggaaaag	17	3	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:138602902G>A	uc011kql.1	-	2	1519	c.1470C>T	c.(1468-1470)ATC>ATT	p.I490I	KIAA1549_uc003vuk.3_Silent_p.I440I|KIAA1549_uc011kqj.1_Silent_p.I490I	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	490						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAAGTGGGACGATAGGTCTGG	0.458			O	BRAF	pilocytic astrocytoma								A	138602902	G	A	138602902	2	1	269	1	0	0	0	0	0	0	0	1	8244	1048	37	1		1	KIAA1549	7	138602902	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	4718731	138602902	20535761	378	133026											
KIAA1549	57670	broad.mit.edu	37	chr7	138603717	138603717	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggactcagcatatgccgctgGttgtcgcgttgtgttctgcc	13	11	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:138603717G>C	uc011kql.1	-	2	704	c.655C>G	c.(655-657)CCA>GCA	p.P219A	KIAA1549_uc003vuk.3_Missense_Mutation_p.P169A|KIAA1549_uc011kqj.1_Missense_Mutation_p.P219A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	219						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TATGCCGCTGGTTGTCGCGTT	0.517			O	BRAF	pilocytic astrocytoma								C	138603717	G	C	138603717	3	2	269	1	0	0	0	0	1	0	0	0	8244	1261	44	5	5273	5	KIAA1549	7	138603717	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	815	138603717	20534946	379	133027											
ADCK2	90956	broad.mit.edu	37	chr7	140378991	140378991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctcagaatctagaacacTtccaggtcaacttccggaat	7	11	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:140378991T>G	uc003vvy.1	+	3	1295	c.1117T>G	c.(1117-1119)TTC>GTC	p.F373V	ADCK2_uc003vvz.2_Missense_Mutation_p.F373V	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	373	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					TCTAGAACACTTCCAGGTCAA	0.493													G	140378991	T	G	140378991	3	3	269	1	0	0	0	0	1	0	0	0	289	1609	56	5	1127	5	ADCK2	7	140378991	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1775274	140378991	18759672	380	133028											
BRAF	673	broad.mit.edu	37	chr7	140494168	140494168	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgatgaggatcggtcTcgttgcccaaattgatttcg	13	8	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:140494168T>C	uc003vwc.3	-	8	1141	c.1080A>G	c.(1078-1080)CGA>CGG	p.R360R		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	360					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		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGGATCGGTCTCGTTGCCCAA	0.428		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				C	140494168	T	C	140494168	2	2	269	1	0	0	0	0	0	0	0	1	1496	1538	54	3		3	BRAF	7	140494168	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	115177	140494168	18644495	381	133029											
OR9A2	135924	broad.mit.edu	37	chr7	142723730	142723730	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgaatttgatttgcggaAggtaaactgaaatgtggcat	11	3	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:142723730A>C	uc003wcc.1	-	1	490	c.490T>G	c.(490-492)TTC>GTC	p.F164V		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					GATTTGCGGAAGGTAAACTGA	0.403													C	142723730	A	C	142723730	3	2	269	1	0	0	0	0	1	0	0	0	11248	72	3	5	446	5	OR9A2	7	142723730	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2229562	142723730	16414933	382	133030											
CUL1	8454	broad.mit.edu	37	chr7	148484124	148484124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagacgtatttcagaAgttctatgcgaagatgctcg	10	7	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:148484124A>C	uc010lpg.2	+	13	1917	c.1391A>C	c.(1390-1392)AAG>ACG	p.K464T	CUL1_uc003wey.2_Missense_Mutation_p.K464T|CUL1_uc003wez.2_Missense_Mutation_p.K354T|CUL1_uc003wfa.2_Missense_Mutation_p.K125T	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	464					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			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTATTTCAGAAGTTCTATGCG	0.478													C	148484124	A	C	148484124	3	2	269	1	0	0	0	0	1	0	0	0	4054	72	3	5	1437	5	CUL1	7	148484124	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5760394	148484124	10654539	383	133031											
SLC4A2	6522	broad.mit.edu	37	chr7	150761422	150761422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgtggaggggaggagcCaggccgcagctatggggagg	21	8	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr7:150761422C>T	uc003wit.3	+	3	441	c.185C>T	c.(184-186)CCA>CTA	p.P62L	SLC4A2_uc011kve.1_Missense_Mutation_p.P53L|SLC4A2_uc003wiu.3_Missense_Mutation_p.P48L	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	62	Cytoplasmic (Potential).|Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGAGGAGCCAGGCCGCAGC	0.642													T	150761422	C	T	150761422	3	4	269	1	0	0	0	0	1	0	0	0	14654	594	21	4	191	4	SLC4A2	7	150761422	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2277298	150761422	8377241	384	133032											
DLGAP2	9228	broad.mit.edu	37	chr8	1497566	1497566	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggacgcccagcgtgctcaAccggcaccacctgggccccg	12	19	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:1497566A>C	uc003wpl.2	+	2	804	c.707A>C	c.(706-708)AAC>ACC	p.N236T	DLGAP2_uc003wpm.2_Missense_Mutation_p.N236T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	315					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCGTGCTCAACCGGCACCAC	0.687													C	1497566	A	C	1497566	3	2	269	1	0	0	0	0	1	0	0	0	4560	43	2	5	709	5	DLGAP2	8	1497566	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08		1497566	144866456	385	133033											
SGK223	157285	broad.mit.edu	37	chr8	8234739	8234739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggccgggggctggggctCccccgtcagcccaaggcatc	17	15	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:8234739C>T	uc003wsh.3	-	2	1180	c.1180G>A	c.(1180-1182)GAG>AAG	p.E394K		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	394							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGCTGGGGCTCCCCCGTCAGC	0.642													T	8234739	C	T	8234739	3	4	269	1	0	0	0	0	1	0	0	0	14210	864	30	4	3044	4	SGK223	8	8234739	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	6737173	8234739	138129283	386	133034											
BLK	640	broad.mit.edu	37	chr8	11414188	11414188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactacaaaaacaacatgaAggtggccattaagacgctga	8	8	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:11414188A>G	uc003wty.2	+	9	1375	c.794A>G	c.(793-795)AAG>AGG	p.K265R	BLK_uc003wtz.2_Missense_Mutation_p.K194R	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	265	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AACAACATGAAGGTGGCCATT	0.537													G	11414188	A	G	11414188	3	3	269	1	0	0	0	0	1	0	0	0	1444	72	3	3	824	3	BLK	8	11414188	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3179449	11414188	134949834	387	133035											
MTUS1	57509	broad.mit.edu	37	chr8	17611800	17611800	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttgacattcttgaagTttggtcttgggtaacttata	9	5	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:17611800T>A	uc003wxv.2	-	2	1991	c.1517A>T	c.(1516-1518)AAC>ATC	p.N506I	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.N506I|MTUS1_uc010lsz.2_Missense_Mutation_p.N506I	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	506						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		ATTCTTGAAGTTTGGTCTTGG	0.413													A	17611800	T	A	17611800	3	1	269	1	0	0	0	0	1	0	0	0	9965	1725	60	5	2670	5	MTUS1	8	17611800	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6197612	17611800	128752222	388	133036											
LPL	4023	broad.mit.edu	37	chr8	19810899	19810899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctggcattgcaggaAgtctgaccaataagaaagtc	11	8	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:19810899A>C	uc003wzk.3	+	4	878	c.508A>C	c.(508-510)AGT>CGT	p.S170R		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	170					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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTGCAGGAAGTCTGACCAA	0.418													C	19810899	A	C	19810899	3	2	269	1	0	0	0	0	1	0	0	0	8921	72	3	5	522	5	LPL	8	19810899	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2199099	19810899	126553123	389	133037											
LPL	4023	broad.mit.edu	37	chr8	19818548	19818548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtggagcagtcccggcTtcgccattcagaagatcaga	12	11	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:19818548T>C	uc003wzk.3	+	8	1646	c.1276T>C	c.(1276-1278)TTC>CTC	p.F426L		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	426	PLAT.|Heparin-binding (By similarity).				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CAGTCCCGGCTTCGCCATTCA	0.418													C	19818548	T	C	19818548	3	2	269	1	0	0	0	0	1	0	0	0	8921	1609	56	3	1306	3	LPL	8	19818548	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7649	19818548	126545474	390	133038											
SLC39A14	23516	broad.mit.edu	37	chr8	22273409	22273409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagcactgcagcagtgAgctggacggcaaggcgccca	13	14	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:22273409A>G	uc003xbq.3	+	6	1053	c.878A>G	c.(877-879)GAG>GGG	p.E293G	SLC39A14_uc011kzg.1_Missense_Mutation_p.E293G|SLC39A14_uc003xbp.3_Missense_Mutation_p.E293G|SLC39A14_uc011kzh.1_Missense_Mutation_p.E293G	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	293	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGCAGCAGTGAGCTGGACGGC	0.607													G	22273409	A	G	22273409	3	3	269	1	0	0	0	0	1	0	0	0	14617	304	11	3	1070	3	SLC39A14	8	22273409	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2454861	22273409	124090613	391	133039											
ADAM7	8756	broad.mit.edu	37	chr8	24350015	24350015	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaccccagaggcaatAgagagtcatgatatctgcta	8	8	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:24350015A>T	uc003xeb.2	+	15	1673	c.1560A>T	c.(1558-1560)ATA>ATT	p.I520I	ADAM7_uc003xec.2_Silent_p.I292I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	520	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGAGGCAATAGAGAGTCATG	0.308													T	24350015	A	T	24350015	2	4	269	1	0	0	0	0	0	0	0	1	251	410	15	5		5	ADAM7	8	24350015	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2076606	24350015	122014007	392	133040											
PPP2R2A	5520	broad.mit.edu	37	chr8	26221361	26221361	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagactatttgtcagtcaaAatttgggacttaaatatgga	9	4	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:26221361A>T	uc003xeu.2	+	8	1229	c.927A>T	c.(925-927)AAA>AAT	p.K309N	PPP2R2A_uc003xek.2_Missense_Mutation_p.K310N|PPP2R2A_uc011laf.1_Missense_Mutation_p.K319N	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	309	WD 5.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		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)		TGTCAGTCAAAATTTGGGACT	0.348													T	26221361	A	T	26221361	3	4	269	1	0	0	0	0	1	0	0	0	12384	11	1	5	998	5	PPP2R2A	8	26221361	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1871346	26221361	120142661	393	133041											
UBXN8	7993	broad.mit.edu	37	chr8	30623750	30623750	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcttctaggtcttatTtgactggatgacgagaattg	9	6	4	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:30623750T>G	uc003xii.2	+	10	670	c.653T>G	c.(652-654)TTT>TGT	p.F218C	UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	NM_005671	NP_005662	O00124	UBXN8_HUMAN	reproduction 8	218	UBX.				single fertilization						0						TAGGTCTTATTTGACTGGATG	0.428													G	30623750	T	G	30623750	3	3	269	1	0	0	0	0	1	0	0	0	16916	1841	64	5	682	5	UBXN8	8	30623750	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4402389	30623750	115740272	394	133042											
TOX	9760	broad.mit.edu	37	chr8	59750826	59750826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttgggagtttttggTtttttccccatatcagaggc	9	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:59750826T>G	uc003xtw.1	-	5	959	c.738A>C	c.(736-738)AAA>AAC	p.K246N		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	246	Nuclear localization signal (Potential).					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		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)				GAGTTTTTGGTTTTTTCCCCA	0.453													G	59750826	T	G	59750826	3	3	269	1	0	0	0	0	1	0	0	0	16374	1722	60	5	862	5	TOX	8	59750826	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	29127076	59750826	86613196	395	133043											
C8orf45	157777	broad.mit.edu	37	chr8	67808561	67808561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaatcaacactctaaTtggtcagatggtaaggtata	8	6	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:67808561T>G	uc003xwz.3	+	11	1607	c.1436T>G	c.(1435-1437)ATT>AGT	p.I479S	C8orf45_uc011lev.1_Missense_Mutation_p.I479S|C8orf45_uc011lew.1_Missense_Mutation_p.I410S|C8orf45_uc011lex.1_Missense_Mutation_p.I237S|C8orf45_uc003xwy.3_Missense_Mutation_p.I479S	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	479					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AACACTCTAATTGGTCAGATG	0.294													G	67808561	T	G	67808561	3	3	269	1	0	0	0	0	1	0	0	0	2430	1493	52	5	1474	5	C8orf45	8	67808561	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8057735	67808561	78555461	396	133044											
PREX2	80243	broad.mit.edu	37	chr8	69069659	69069659	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaggtcaaacagtacaAccagaagctcaggtatgtaa	10	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:69069659A>C	uc003xxv.1	+	35	4361	c.4334A>C	c.(4333-4335)AAC>ACC	p.N1445T		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1445					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AAACAGTACAACCAGAAGCTC	0.333													C	69069659	A	C	69069659	3	2	269	1	0	0	0	0	1	0	0	0	12477	43	2	5	4701	5	PREX2	8	69069659	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1261098	69069659	77294363	397	133045											
TRPA1	8989	broad.mit.edu	37	chr8	72946061	72946061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatggagagctgaagggatCctgaaagcagacggtgaggt	16	6	0	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:72946061C>T	uc003xza.2	-	23	2861	c.2686G>A	c.(2686-2688)GAT>AAT	p.D896N	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	896	Extracellular (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CTGAAGGGATCCTGAAAGCAG	0.373													T	72946061	C	T	72946061	3	4	269	1	0	0	0	0	1	0	0	0	16574	869	30	4	693	4	TRPA1	8	72946061	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3876402	72946061	73417961	398	133046											
LRRCC1	85444	broad.mit.edu	37	chr8	86041521	86041521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgaactaatgaaagcaaaAgatcaacaagaggatcacct	8	7	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:86041521A>G	uc003ycw.2	+	10	1687	c.1533A>G	c.(1531-1533)AAA>AAG	p.K511K	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Silent_p.K212K|LRRCC1_uc003ycx.2_Silent_p.K418K|LRRCC1_uc003ycy.2_Silent_p.K491K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	511	Potential.				cell division|mitosis	centriole|nucleus					0						TGAAAGCAAAAGATCAACAAG	0.343													G	86041521	A	G	86041521	2	3	269	1	0	0	0	0	0	0	0	1	9026	69	3	3		3	LRRCC1	8	86041521	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	13095460	86041521	60322501	399	133047											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87125995	87125995	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttggctaatcacacaaAtcctcttactgtttccaaaa	3	11	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:87125995A>C	uc003ydp.1	+	2	257	c.188A>C	c.(187-189)AAT>ACT	p.N63T		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	63					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0						AATCACACAAATCCTCTTACT	0.368													C	87125995	A	C	87125995	3	2	269	1	0	0	0	0	1	0	0	0	1174	101	4	5	194	5	ATP6V0D2	8	87125995	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1084474	87125995	59238027	400	133048											
CNBD1	168975	broad.mit.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	4	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:88365898T>G	uc003ydy.2	+	10	1235	c.1187T>G	c.(1186-1188)CTT>CGT	p.L396R		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396	cNMP.									ovary(3)	3						ATGGGGAAACTTAAGGAGAAG	0.323													G	88365898	T	G	88365898	3	3	269	1	0	0	0	0	1	0	0	0	3591	1609	56	5	1225	5	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1239903	88365898	57998124	401	133049											
TMEM67	91147	broad.mit.edu	37	chr8	94822056	94822056	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tataaaagataagttgcttcTtgaaagaattcttggaatgg	9	3	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:94822056T>A	uc011lgk.1	+	26	2776	c.2705T>A	c.(2704-2706)CTT>CAT	p.L902H	TMEM67_uc010maw.2_Missense_Mutation_p.L608H|TMEM67_uc003yga.3_Missense_Mutation_p.L821H|TMEM67_uc011lgl.1_Missense_Mutation_p.L301H	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	902					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			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGTTGCTTCTTGAAAGAATT	0.303													A	94822056	T	A	94822056	3	1	269	1	0	0	0	0	1	0	0	0	16193	1609	56	5	2945	5	TMEM67	8	94822056	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6456158	94822056	51541966	402	133050											
GEM	2669	broad.mit.edu	37	chr8	95264363	95264363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcagctcagatgccttcTcgaagctcgctcggtctgtg	11	13	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:95264363T>C	uc003ygj.2	-	4	746	c.497A>G	c.(496-498)GAG>GGG	p.E166G	GEM_uc003ygi.2_Missense_Mutation_p.E166G	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	166					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			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGATGCCTTCTCGAAGCTCGC	0.527													C	95264363	T	C	95264363	3	2	269	1	0	0	0	0	1	0	0	0	6329	1551	54	3	401	3	GEM	8	95264363	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	442307	95264363	51099659	403	133051											
KIAA1429	25962	broad.mit.edu	37	chr8	95501040	95501040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactagcccaggaaggtccaAgtcccccacgacctctagaa	8	16	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:95501040A>G	uc003ygo.1	-	24	5346	c.5333T>C	c.(5332-5334)CTT>CCT	p.L1778P	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1778					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GGAAGGTCCAAGTCCCCCACG	0.493													G	95501040	A	G	95501040	3	3	269	1	0	0	0	0	1	0	0	0	8231	72	3	3	109	3	KIAA1429	8	95501040	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	236677	95501040	50862982	404	133052											
C8orf47	203111	broad.mit.edu	37	chr8	99101485	99101485	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgttaaacccctccaAgaacagcccctggccaagga	9	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:99101485A>T	uc003yih.1	+	2	388	c.240A>T	c.(238-240)CAA>CAT	p.Q80H		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	80											0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AACCCCTCCAAGAACAGCCCC	0.522													T	99101485	A	T	99101485	3	4	269	1	0	0	0	0	1	0	0	0	2432	69	3	5	246	5	C8orf47	8	99101485	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3600445	99101485	47262537	405	133053											
RGS22	26166	broad.mit.edu	37	chr8	101059816	101059816	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgtgataagctgaaTtcttctttctaaaagatggt	11	4	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:101059816T>G	uc003yjb.1	-	11	1893	c.1698A>C	c.(1696-1698)GAA>GAC	p.E566D	RGS22_uc003yja.1_Missense_Mutation_p.E385D|RGS22_uc003yjc.1_Missense_Mutation_p.E554D|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	566					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATAAGCTGAATTCTTCTTTCT	0.383													G	101059816	T	G	101059816	3	3	269	1	0	0	0	0	1	0	0	0	13305	1490	52	5	2164	5	RGS22	8	101059816	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1958331	101059816	45304206	406	133054											
SNX31	169166	broad.mit.edu	37	chr8	101624261	101624261	+	Missense_Mutation	SNP	T	T	G													caaccttacagttttccaccTcagaacttccaagactaaca							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:101624261T>G	uc003yjr.2	-	7	729	c.578A>C	c.(577-579)GAG>GCG	p.E193A	SNX31_uc011lha.1_5'UTR|SNX31_uc011lhb.1_Missense_Mutation_p.E94A	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	193					cell communication|protein transport		phosphatidylinositol binding				0	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)			GTTTTCCACCTCAGAACTTCC	0.453													G	101624261	T	G	101624261	3	3	269	1	0	0	0	0	1	0	0	0	14901	1551	54	5	776	5	SNX31	8	101624261	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	564445	101624261	44739761	407	133055	691	2									
SNX31	169166	broad.mit.edu	37	chr8	101624268	101624268	+	Missense_Mutation	SNP	T	T	C													acagttttccacctcagaacTtccaagactaacataaggga							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:101624268T>C	uc003yjr.2	-	7	722	c.571A>G	c.(571-573)AGT>GGT	p.S191G	SNX31_uc011lha.1_5'UTR|SNX31_uc011lhb.1_Missense_Mutation_p.S92G	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	191					cell communication|protein transport		phosphatidylinositol binding				0	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)			ACCTCAGAACTTCCAAGACTA	0.448													C	101624268	T	C	101624268	3	2	269	1	0	0	0	0	1	0	0	0	14901	1609	56	3	783	3	SNX31	8	101624268	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7	101624268	44739754	408	133056	691	2									
COLEC10	10584	broad.mit.edu	37	chr8	120079640	120079643	+	Frame_Shift_Del	DEL	CACA	CACA	-													cctaccgctgaagtctgtgcCacacacacaatttcaccagg							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:120079639_120079642CCACA>C	uc003yoo.3	+	0	216_219	c.119_122CCACA>C	c.(118-123)gccacafs	p.A40fs		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	40						collagen|cytoplasm	mannose binding	p.C39Y(1)		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)			GAAGTCTGTGCCACACACACAATT	0.412													-	120079643	CACA	-	120079640	7	5	269	1	0	1	0	1	0	0	0	0	3710	581	21	0	122	0	COLEC10	8	120079640	Frame_Shift_Del	DEL	CACA	TCGA-HU-A4GH-01A-11D-A24D-08	18455372	120079640	26284382	409	133057											
ENPP2	5168	broad.mit.edu	37	chr8	120650688	120650688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggaggaccttcctcccatCcttctgctctcttaattcga	6	14	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:120650688C>T	uc003yot.1	-	2	199	c.113G>A	c.(112-114)GGA>GAA	p.G38E	ENPP2_uc003yos.1_Missense_Mutation_p.G38E|ENPP2_uc010mdd.1_Missense_Mutation_p.G38E	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	38					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			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCCTCCCATCCTTCTGCTCT	0.353													T	120650688	C	T	120650688	3	4	269	1	0	0	0	0	1	0	0	0	5130	855	30	4	2813	4	ENPP2	8	120650688	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	571048	120650688	25713334	410	133058											
COL14A1	7373	broad.mit.edu	37	chr8	121238870	121238870	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcggtttacagaggaAgttccagcccagcaatactt	8	12	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:121238870A>C	uc003yox.2	+	16	2134	c.1869A>C	c.(1867-1869)GAA>GAC	p.E623D	COL14A1_uc003yoy.2_Missense_Mutation_p.E301D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	623	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TTACAGAGGAAGTTCCAGCCC	0.468													C	121238870	A	C	121238870	3	2	269	1	0	0	0	0	1	0	0	0	3671	69	3	5	1927	5	COL14A1	8	121238870	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	588182	121238870	25125152	411	133059											
COL14A1	7373	broad.mit.edu	37	chr8	121259915	121259915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtataaccggttgcgcattaCgtgggaccccccatcttccc	9	15	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:121259915C>T	uc003yox.2	+	21	2808	c.2543C>T	c.(2542-2544)ACG>ATG	p.T848M	COL14A1_uc003yoy.2_Missense_Mutation_p.T526M	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	848	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TTGCGCATTACGTGGGACCCC	0.468													T	121259915	C	T	121259915	3	4	269	1	0	0	0	0	1	0	0	0	3671	536	19	1	2621	1	COL14A1	8	121259915	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	21045	121259915	25104107	412	133060											
HAS2	3037	broad.mit.edu	37	chr8	122626360	122626360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaagatcatacatcaaGcaccatgtcatattgttgtc	7	9	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:122626360G>A	uc003yph.2	-	4	2186	c.1648C>T	c.(1648-1650)CTT>TTT	p.L550F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	550	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	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)			CATACATCAAGCACCATGTCA	0.443													A	122626360	G	A	122626360	3	1	269	1	0	0	0	0	1	0	0	0	6962	971	34	2	14	2	HAS2	8	122626360	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1366445	122626360	23737662	413	133061											
ZHX2	22882	broad.mit.edu	37	chr8	123964340	123964340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaaaagcggatgccaAgaaggtgcccaagaagcccg	11	11	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:123964340A>G	uc003ypk.1	+	3	1157	c.590A>G	c.(589-591)AAG>AGG	p.K197R		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	197	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGATGCCAAGAAGGTGCCC	0.582													G	123964340	A	G	123964340	3	3	269	1	0	0	0	0	1	0	0	0	17673	72	3	3	592	3	ZHX2	8	123964340	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1337980	123964340	22399682	414	133062											
TG	7038	broad.mit.edu	37	chr8	133925381	133925381	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctggactccaagacgTtcccagcggaaaccatccgc	8	15	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:133925381T>G	uc003ytw.2	+	20	4290	c.4249T>G	c.(4249-4251)TTC>GTC	p.F1417V	TG_uc010mdw.2_Missense_Mutation_p.F176V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1417					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		CTCCAAGACGTTCCCAGCGGA	0.547													G	133925381	T	G	133925381	3	3	269	1	0	0	0	0	1	0	0	0	15810	1725	60	5	4327	5	TG	8	133925381	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	9961041	133925381	12438641	415	133063											
ZFAT	57623	broad.mit.edu	37	chr8	135649941	135649941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgcctctcttcctctTcatgaccaaaaactctacag	5	15	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:135649941T>G	uc003yup.2	-	3	386	c.211A>C	c.(211-213)AAG>CAG	p.K71Q	ZFAT_uc003yun.2_Missense_Mutation_p.K59Q|ZFAT_uc003yuo.2_Missense_Mutation_p.K59Q|ZFAT_uc010meh.2_Missense_Mutation_p.K59Q|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.K59Q|ZFAT_uc010mej.2_Missense_Mutation_p.K71Q|ZFAT_uc003yur.2_Missense_Mutation_p.K59Q	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			CTCTTCCTCTTCATGACCAAA	0.532													G	135649941	T	G	135649941	3	3	269	1	0	0	0	0	1	0	0	0	17629	1792	62	5	3576	5	ZFAT	8	135649941	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1724560	135649941	10714081	416	133064											
COL22A1	169044	broad.mit.edu	37	chr8	139767741	139767741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgttcccctttcaagCcctcttgctgcacctgagag	7	15	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:139767741C>A	uc003yvd.2	-	20	2408	c.1961G>T	c.(1960-1962)GGC>GTC	p.G654V	COL22A1_uc011ljo.1_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	654	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			CCCTTTCAAGCCCTCTTGCTG	0.502										HNSCC(7;0.00092)			A	139767741	C	A	139767741	3	1	269	1	0	0	0	0	1	0	0	0	3681	739	26	5	3103	5	COL22A1	8	139767741	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	4117800	139767741	6596281	417	133065											
KCNK9	51305	broad.mit.edu	37	chr8	140631195	140631195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcatgccacagcacttcTtaatgcgcttcagcaggtag	10	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:140631195T>G	uc003yvf.1	-	2	495	c.431A>C	c.(430-432)AAG>ACG	p.K144T	KCNK9_uc003yvg.1_Missense_Mutation_p.K144T|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	144	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	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)			ACAGCACTTCTTAATGCGCTT	0.597													G	140631195	T	G	140631195	3	3	269	1	0	0	0	0	1	0	0	0	8072	1609	56	5	697	5	KCNK9	8	140631195	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	863454	140631195	5732827	418	133066											
SCRT1	83482	broad.mit.edu	37	chr8	145559797	145559797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccgaagagaacgcgtcaAgtttgaccttcttgaccagg	12	11	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:145559797A>C	uc003zbw.1	-	1	147	c.35T>G	c.(34-36)CTT>CGT	p.L12R		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	12						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)			GAACGCGTCAAGTTTGACCTT	0.692													C	145559797	A	C	145559797	3	2	269	1	0	0	0	0	1	0	0	0	13941	72	3	5	1019	5	SCRT1	8	145559797	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4928602	145559797	804225	419	133067											
NFKBIL2	4796	broad.mit.edu	37	chr8	145665443	145665443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgccggcctccagggcttCgctctccgctgtggctgccg	13	18	1	0	rs146174683	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr8:145665443C>T	uc011llg.1	-	11	1456	c.1441G>A	c.(1441-1443)GAA>AAA	p.E481K		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	481	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			TCCAGGGCTTCGCTCTCCGCT	0.557													T	145665443	C	T	145665443	3	4	269	1	0	0	0	0	1	0	0	0	10382	893	31	1	2759	1	NFKBIL2	8	145665443	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	105646	145665443	698579	420	133068											
DMRT2	10655	broad.mit.edu	37	chr9	1056580	1056580	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcagcgtggccacaacTtatagacagtatcccttgtc	8	11	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:1056580T>C	uc003zha.2	+	4	1193	c.993T>C	c.(991-993)ACT>ACC	p.T331T	DMRT2_uc003zgx.3_Silent_p.T98T|DMRT2_uc010mgz.2_Silent_p.T98T|DMRT2_uc003zgy.3_Silent_p.T175T|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.T331T	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	331					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TGGCCACAACTTATAGACAGT	0.453													C	1056580	T	C	1056580	2	2	269	1	0	0	0	0	0	0	0	1	4586	1596	56	3		3	DMRT2	9	1056580	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		1056580	140156851	421	133069											
PTPRD	5789	broad.mit.edu	37	chr9	8465495	8465495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttccattactgctaacaCaaagaagacatattcttgac	5	9	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:8465495C>T	uc003zkk.2	-	31	4396	c.3685G>A	c.(3685-3687)GTG>ATG	p.V1229M	PTPRD_uc003zkp.2_Missense_Mutation_p.V818M|PTPRD_uc003zkq.2_Missense_Mutation_p.V818M|PTPRD_uc003zkr.2_Missense_Mutation_p.V813M|PTPRD_uc003zks.2_Missense_Mutation_p.V808M|PTPRD_uc003zkl.2_Missense_Mutation_p.V1220M|PTPRD_uc003zkm.2_Missense_Mutation_p.V1216M|PTPRD_uc003zkn.2_Missense_Mutation_p.V818M|PTPRD_uc003zko.2_Missense_Mutation_p.V815M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1229	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		ACTGCTAACACAAAGAAGACA	0.403										TSP Lung(15;0.13)			T	8465495	C	T	8465495	3	4	269	1	0	0	0	0	1	0	0	0	12799	478	17	4	2178	4	PTPRD	9	8465495	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	7408915	8465495	132747936	422	133070											
PTPRD	5789	broad.mit.edu	37	chr9	8504266	8504266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagagacacctacttgacTgcatggttctagctgatatt	9	8	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:8504266T>C	uc003zkk.2	-	22	2528	c.1817A>G	c.(1816-1818)CAG>CGG	p.Q606R	PTPRD_uc003zkp.2_Missense_Mutation_p.Q606R|PTPRD_uc003zkq.2_Missense_Mutation_p.Q606R|PTPRD_uc003zkr.2_Missense_Mutation_p.Q600R|PTPRD_uc003zks.2_Missense_Mutation_p.Q596R|PTPRD_uc003zkl.2_Missense_Mutation_p.Q606R|PTPRD_uc003zkm.2_Missense_Mutation_p.Q593R|PTPRD_uc003zkn.2_Missense_Mutation_p.Q606R|PTPRD_uc003zko.2_Missense_Mutation_p.Q603R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	606	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		CCTACTTGACTGCATGGTTCT	0.458										TSP Lung(15;0.13)			C	8504266	T	C	8504266	3	2	269	1	0	0	0	0	1	0	0	0	12799	1580	55	3	4085	3	PTPRD	9	8504266	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	38771	8504266	132709165	423	133071											
HAUS6	54801	broad.mit.edu	37	chr9	19093208	19093208	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttcattgcaacaaatcTtgcaaaatgatacatcagat	4	7	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:19093208T>G	uc003znk.2	-	4	650	c.397A>C	c.(397-399)AGA>CGA	p.R133R	HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	133					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						GCAACAAATCTTGCAAAATGA	0.284													G	19093208	T	G	19093208	2	3	269	1	0	0	0	0	0	0	0	1	6970	1617	56	5		5	HAUS6	9	19093208	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	10588942	19093208	122120223	424	133072											
IFNA5	3442	broad.mit.edu	37	chr9	21304715	21304715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccttaatctttcttgcaAgtttgctgataaagagaagg	8	8	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:21304715A>G	uc011lnh.1	-	1	541	c.541T>C	c.(541-543)TTG>CTG	p.L181L		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5 precursor	181					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			ovary(1)	1				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTTCTTGCAAGTTTGCTGAT	0.403													G	21304715	A	G	21304715	2	3	269	1	0	0	0	0	0	0	0	1	7540	69	3	3		3	IFNA5	9	21304715	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2211507	21304715	119908716	425	133073											
TAF1L	138474	broad.mit.edu	37	chr9	32634227	32634227	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagccagcctgccaggcTtgcaccctgaggttttgtcc	12	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:32634227T>G	uc003zrg.1	-	1	1441	c.1351A>C	c.(1351-1353)AGC>CGC	p.S451R	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	451					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTGCCAGGCTTGCACCCTGA	0.468													G	32634227	T	G	32634227	3	3	269	1	0	0	0	0	1	0	0	0	15520	1609	56	5	4133	5	TAF1L	9	32634227	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	11329512	32634227	108579204	426	133074											
AQP7	364	broad.mit.edu	37	chr9	33385038	33385038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggattcatgtaaggGtggggcagggtggactgaag	19	5	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:33385038G>C	uc003zst.2	-	8	1166	c.994C>G	c.(994-996)CCC>GCC	p.P332A	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_3'UTR	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	332	Cytoplasmic (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCATGTAAGGGTGGGGCAGGG	0.532													C	33385038	G	C	33385038	3	2	269	1	0	0	0	0	1	0	0	0	831	1261	44	5	38	5	AQP7	9	33385038	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	750811	33385038	107828393	427	133075											
DNAI1	27019	broad.mit.edu	37	chr9	34500839	34500839	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcactgccctctgctggTaagtataggcattgcagcaa	10	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:34500839T>G	uc003zum.2	+	11	1212	c.1019_splice	c.e11+2	p.W340_splice		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1						cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCTCTGCTGGTAAGTATAGGC	0.547									Kartagener_syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	34500839	T	G	34500839	5	3	269	1	0	0	0	0	0	0	1	0	4609	1652	57	5	1063	5	DNAI1	9	34500839	Splice_Site	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1115801	34500839	106712592	428	133076											
UNC13B	10497	broad.mit.edu	37	chr9	35310525	35310525	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggaagctctcagctaAgtgaactagaccagtatcac	9	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:35310525A>T	uc003zwq.2	+	9	1115	c.823A>T	c.(823-825)AGT>TGT	p.S275C	UNC13B_uc010mkl.1_Missense_Mutation_p.S275C|UNC13B_uc003zwr.2_Missense_Mutation_p.S275C	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	275					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTCAGCTAAGTGAACTAGA	0.493													T	35310525	A	T	35310525	3	4	269	1	0	0	0	0	1	0	0	0	16982	72	3	5	857	5	UNC13B	9	35310525	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	809686	35310525	105902906	429	133077											
TLN1	7094	broad.mit.edu	37	chr9	35716443	35716443	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggatcttggcagcacttaAgagcttgcgggagttctcca	12	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:35716443A>C	uc003zxt.2	-	20	2923	c.2569T>G	c.(2569-2571)TTA>GTA	p.L857V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	857					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCACTTAAGAGCTTGCGG	0.572													C	35716443	A	C	35716443	3	2	269	1	0	0	0	0	1	0	0	0	15944	69	3	5	5208	5	TLN1	9	35716443	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	405918	35716443	105496988	430	133078											
DCAF10	79269	broad.mit.edu	37	chr9	37861498	37861498	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctttgtatcagccaaAgttttaggcacaacttacat	7	8	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:37861498A>C	uc004aao.2	+	7	1747	c.1673A>C	c.(1672-1674)AAG>ACG	p.K558T	DCAF10_uc010mlz.2_Missense_Mutation_p.K385T|DCAF10_uc004aap.2_Missense_Mutation_p.K209T	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	WD repeat domain 32	558	WD 7.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1						TATCAGCCAAAGTTTTAGGCA	0.368													C	37861498	A	C	37861498	3	2	269	1	0	0	0	0	1	0	0	0	4261	72	3	5	1699	5	DCAF10	9	37861498	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2145055	37861498	103351933	431	133079											
VPS13A	23230	broad.mit.edu	37	chr9	79890551	79890551	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgactacatttaaaataAgatttgaagtaccaaaggta	6	4	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:79890551A>C	uc004akr.2	+	25	2910	c.2650A>C	c.(2650-2652)AGA>CGA	p.R884R	VPS13A_uc004akp.3_Silent_p.R884R|VPS13A_uc004akq.3_Silent_p.R884R|VPS13A_uc004aks.2_Silent_p.R884R	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	884					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATTTAAAATAAGATTTGAAGT	0.318													C	79890551	A	C	79890551	2	2	269	1	0	0	0	0	0	0	0	1	17186	64	3	5		5	VPS13A	9	79890551	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	42029053	79890551	61322880	432	133080											
C9orf153	389766	broad.mit.edu	37	chr9	88842926	88842926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttattaaaattctcaataCatgcatataattctggaagc	4	8	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:88842926C>T	uc004aoo.2	-	3	167	c.86G>A	c.(85-87)TGT>TAT	p.C29Y	GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.2_Missense_Mutation_p.C29Y	NM_001010907	NP_001010907	Q5TBE3	CI153_HUMAN	hypothetical protein LOC389766	29											0						ATTCTCAATACATGCATATAA	0.338													T	88842926	C	T	88842926	3	4	269	1	0	0	0	0	1	0	0	0	2464	478	17	4	227	4	C9orf153	9	88842926	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	8952375	88842926	52370505	433	133081											
PTPDC1	138639	broad.mit.edu	37	chr9	96860695	96860695	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagcacagttcttggttgAacatgaaacccaggacagta	9	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:96860695A>C	uc004auf.1	+	7	2025	c.1685A>C	c.(1684-1686)GAA>GCA	p.E562A	PTPDC1_uc004aug.1_Missense_Mutation_p.E562A|PTPDC1_uc004auh.1_Missense_Mutation_p.E614A|PTPDC1_uc010mrj.1_Missense_Mutation_p.E616A|PTPDC1_uc010mri.1_Missense_Mutation_p.E614A	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	562							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						TTCTTGGTTGAACATGAAACC	0.522													C	96860695	A	C	96860695	3	2	269	1	0	0	0	0	1	0	0	0	12773	246	9	5	1949	5	PTPDC1	9	96860695	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8017769	96860695	44352736	434	133082											
CDC14B	8555	broad.mit.edu	37	chr9	99325055	99325055	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaacaattttcttccttaAcattgtaatggactgcataa	5	7	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:99325055A>C	uc004awj.2	-	4	792	c.340T>G	c.(340-342)TTA>GTA	p.L114V	CDC14B_uc004awk.2_Missense_Mutation_p.L114V|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.L77V	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	114	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			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TTCTTCCTTAACATTGTAATG	0.313													C	99325055	A	C	99325055	3	2	269	1	0	0	0	0	1	0	0	0	3057	40	2	5	1200	5	CDC14B	9	99325055	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2464360	99325055	41888376	435	133083											
CTSL2	1515	broad.mit.edu	37	chr9	99800269	99800269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaattttggtcaaatttTggaacagcggaggctattcc	9	8	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:99800269T>C	uc004awt.2	-	2	254	c.57A>G	c.(55-57)CCA>CCG	p.P19P	CTSL2_uc010msi.2_Silent_p.P19P|CTSL2_uc004awu.2_5'UTR|CTSL2_uc010msj.1_5'UTR|CTSL2_uc010msk.2_5'UTR	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	19						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				GGTCAAATTTTGGAACAGCGG	0.428													C	99800269	T	C	99800269	2	2	269	1	0	0	0	0	0	0	0	1	4039	1799	63	3		3	CTSL2	9	99800269	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	475214	99800269	41413162	436	133084											
GRIN3A	116443	broad.mit.edu	37	chr9	104433060	104433060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagtcattagtcatggggTctagacagagttggccagca	13	7	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:104433060T>G	uc004bbp.1	-	3	2235	c.1634A>C	c.(1633-1635)GAC>GCC	p.D545A	GRIN3A_uc004bbq.1_Missense_Mutation_p.D545A	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	545	Extracellular (Potential).				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			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		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)	AGTCATGGGGTCTAGACAGAG	0.463													G	104433060	T	G	104433060	3	3	269	1	0	0	0	0	1	0	0	0	6783	1667	58	5	1741	5	GRIN3A	9	104433060	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4632791	104433060	36780371	437	133085											
KIAA0368	23392	broad.mit.edu	37	chr9	114124385	114124385	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgctgtctggctccatAgtagctaaagactcaattag	10	9	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:114124385A>G	uc004bfe.1	-	51	5979	c.5979T>C	c.(5977-5979)ACT>ACC	p.T1993T		NM_001080398	NP_001073867			KIAA0368 protein												0						CTGGCTCCATAGTAGCTAAAG	0.353													G	114124385	A	G	114124385	2	3	269	1	0	0	0	0	0	0	0	1	8171	407	15	3		3	KIAA0368	9	114124385	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	9691325	114124385	27089046	438	133086											
OR1N1	138883	broad.mit.edu	37	chr9	125289162	125289162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcattagggcacagacTtggggcctcatgactgtgga	14	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:125289162T>G	uc004bmn.1	-	1	411	c.411A>C	c.(409-411)CAA>CAC	p.Q137H		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						GGGCACAGACTTGGGGCCTCA	0.552													G	125289162	T	G	125289162	3	3	269	1	0	0	0	0	1	0	0	0	10969	1606	56	5	528	5	OR1N1	9	125289162	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	11164777	125289162	15924269	439	133087											
OR1L1	26737	broad.mit.edu	37	chr9	125423888	125423888	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taattgtaatgttttaaattTtttctttgctgataagaaga	6	2	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:125423888T>A	uc011lza.1	+	1	44	c.44T>A	c.(43-45)TTT>TAT	p.F15Y		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						GTTTTAAATTTTTTCTTTGCT	0.284													A	125423888	T	A	125423888	3	1	269	1	0	0	0	0	1	0	0	0	10963	1856	64	5		5	OR1L1	9	125423888	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	134726	125423888	15789543	440	133088											
OR1L4	254973	broad.mit.edu	37	chr9	125486878	125486878	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatggtggtgatgactgagAccttagctgtcattgtgacc	13	7	1	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:125486878A>T	uc004bmu.1	+	1	610	c.610A>T	c.(610-612)ACC>TCC	p.T204S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATGACTGAGACCTTAGCTGT	0.517													T	125486878	A	T	125486878	3	4	269	1	0	0	0	0	1	0	0	0	10965	275	10	5	612	5	OR1L4	9	125486878	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	62990	125486878	15726553	441	133089											
HSPA5	3309	broad.mit.edu	37	chr9	128003292	128003292	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccccacttaccaggagtaGgtggtccccaggtcgatgcc	11	14	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:128003292G>T	uc004bpn.2	-	1	370	c.114C>A	c.(112-114)ACC>ACA	p.T38T		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	38					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			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	ACCAGGAGTAGGTGGTCCCCA	0.677										Prostate(1;0.17)			T	128003292	G	T	128003292	2	4	269	1	0	0	0	0	0	0	0	1	7414	987	35	5		5	HSPA5	9	128003292	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2516414	128003292	13210139	442	133090											
NUP188	23511	broad.mit.edu	37	chr9	131757652	131757652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaattttccatcgagaaAcgctttgcctactggtcagg	9	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:131757652A>C	uc004bws.1	+	30	3232	c.3210A>C	c.(3208-3210)AAA>AAC	p.K1070N	NUP188_uc004bwu.2_Missense_Mutation_p.K413N	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1070					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CCATCGAGAAACGCTTTGCCT	0.453													C	131757652	A	C	131757652	3	2	269	1	0	0	0	0	1	0	0	0	10758	40	2	5	3328	5	NUP188	9	131757652	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3754360	131757652	9455779	443	133091											
TTF1	7270	broad.mit.edu	37	chr9	135277028	135277028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccttttgacagacgtaAgcttccttttcttagacttc	7	11	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:135277028A>C	uc004cbl.2	-	2	1233	c.1181T>G	c.(1180-1182)CTT>CGT	p.L394R	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	394					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GACAGACGTAAGCTTCCTTTT	0.473													C	135277028	A	C	135277028	3	2	269	1	0	0	0	0	1	0	0	0	16715	72	3	5	1576	5	TTF1	9	135277028	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3519376	135277028	5936403	444	133092											
DBH	1621	broad.mit.edu	37	chr9	136508598	136508598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggaagtcttccagtgcGcccccgagatggacagcgtc	12	13	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:136508598G>A	uc004cel.2	+	4	817	c.808G>A	c.(808-810)GCC>ACC	p.A270T		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	270	Intragranular (Potential).				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			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTCCAGTGCGCCCCCGAGAT	0.662													A	136508598	G	A	136508598	3	1	269	1	0	0	0	0	1	0	0	0	4250	1087	38	1	822	1	DBH	9	136508598	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1231570	136508598	4704833	445	133093											
COBRA1	25920	broad.mit.edu	37	chr9	140150786	140150786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttgttccaggtacaAgaagctggaagaccttctgg	13	7	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:140150786A>G	uc004cmm.3	+	3	475	c.272A>G	c.(271-273)AAG>AGG	p.K91R		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	91					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		TCCAGGTACAAGAAGCTGGAA	0.552													G	140150786	A	G	140150786	3	3	269	1	0	0	0	0	1	0	0	0	3655	72	3	3	282	3	COBRA1	9	140150786	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3642188	140150786	1062645	446	133094											
PNPLA7	375775	broad.mit.edu	37	chr9	140441764	140441764	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccaagatactcacgaaAttgtctaagccttctgaaca	7	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr9:140441764A>C	uc004cnf.2	-	2	452	c.115T>G	c.(115-117)TTT>GTT	p.F39V	PNPLA7_uc010ncj.1_Missense_Mutation_p.F64V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	39					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TACTCACGAAATTGTCTAAGC	0.587													C	140441764	A	C	140441764	3	2	269	1	0	0	0	0	1	0	0	0	12170	101	4	5	3970	5	PNPLA7	9	140441764	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	290978	140441764	771667	447	133095											
AKR1C2	1646	broad.mit.edu	37	chr10	5040881	5040881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctccagcagcctgtggTtgaagttggacaccccgatg	11	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:5040881T>C	uc010qan.1	-	5	685	c.506A>G	c.(505-507)AAC>AGC	p.N169S	AKR1E2_uc001ihl.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C2_uc009xhy.2_Missense_Mutation_p.N143S|AKR1C2_uc001ihs.2_Missense_Mutation_p.N169S|AKR1C2_uc001iht.2_Missense_Mutation_p.N169S	NM_205845	NP_995317	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	169					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				0					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CAGCCTGTGGTTGAAGTTGGA	0.517													C	5040881	T	C	5040881	3	2	269	1	0	0	0	0	1	0	0	0	470	1725	60	3	485	3	AKR1C2	10	5040881	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		5040881	130493866	448	133096											
AKR1C4	1109	broad.mit.edu	37	chr10	5242195	5242195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattagcaatagaagctggcTtccgccatattgattctgct	8	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:5242195T>G	uc001ihw.2	+	2	169	c.136T>G	c.(136-138)TTC>GTC	p.F46V		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	46					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			ovary(1)	1					NADH(DB00157)	AGAAGCTGGCTTCCGCCATAT	0.453													G	5242195	T	G	5242195	3	3	269	1	0	0	0	0	1	0	0	0	472	1609	56	5	142	5	AKR1C4	10	5242195	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	201314	5242195	130292552	449	133097											
PRKCQ	5588	broad.mit.edu	37	chr10	6528061	6528061	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtttatgccacaaaggTtggccacctttgtctggcat	10	10	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:6528061T>G	uc001ijj.1	-	9	911	c.836A>C	c.(835-837)AAC>ACC	p.N279T	PRKCQ_uc009xim.1_Missense_Mutation_p.N279T|PRKCQ_uc001iji.1_Missense_Mutation_p.N312T|PRKCQ_uc009xin.1_Missense_Mutation_p.N243T|PRKCQ_uc010qax.1_Missense_Mutation_p.N154T	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	279	Phorbol-ester/DAG-type 2.				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			ovary(3)|lung(2)|large_intestine(1)	6						GCCACAAAGGTTGGCCACCTT	0.522													G	6528061	T	G	6528061	3	3	269	1	0	0	0	0	1	0	0	0	12515	1725	60	5	1324	5	PRKCQ	10	6528061	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1285866	6528061	129006686	450	133098											
PRKCQ	5588	broad.mit.edu	37	chr10	6552963	6552963	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcaacgttacccatatTtctgtcttcccgttgttctt	5	11	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:6552963T>A	uc001ijj.1	-	3	387	c.312A>T	c.(310-312)GAA>GAT	p.E104D	PRKCQ_uc009xim.1_Missense_Mutation_p.E104D|PRKCQ_uc001iji.1_Missense_Mutation_p.E137D|PRKCQ_uc009xin.1_Missense_Mutation_p.E68D|PRKCQ_uc010qax.1_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	104	C2.				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			ovary(3)|lung(2)|large_intestine(1)	6						TTACCCATATTTCTGTCTTCC	0.473													A	6552963	T	A	6552963	3	1	269	1	0	0	0	0	1	0	0	0	12515	1838	64	5	1872	5	PRKCQ	10	6552963	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	24902	6552963	128981784	451	133099											
SFMBT2	57713	broad.mit.edu	37	chr10	7212906	7212906	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgctcctgaaatatcTtggccaagggggcacagtct	11	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:7212906T>G	uc009xio.1	-	20	2619	c.2528A>C	c.(2527-2529)AAG>ACG	p.K843T	SFMBT2_uc001ijn.1_Missense_Mutation_p.K843T|SFMBT2_uc010qay.1_Missense_Mutation_p.K678T	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	843	SAM.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CTGAAATATCTTGGCCAAGGG	0.403													G	7212906	T	G	7212906	3	3	269	1	0	0	0	0	1	0	0	0	14158	1609	56	5	164	5	SFMBT2	10	7212906	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	659943	7212906	128321841	452	133100											
CDNF	441549	broad.mit.edu	37	chr10	14867563	14867563	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgcacactcattgggcgAgtgacttcacttaggatctt	9	9	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:14867563A>G	uc001inb.1	-	3	338	c.300T>C	c.(298-300)ACT>ACC	p.T100T	CDNF_uc010qbv.1_Silent_p.T100T|CDNF_uc001inc.1_5'UTR	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	100						extracellular region	growth factor activity				0						TCATTGGGCGAGTGACTTCAC	0.438													G	14867563	A	G	14867563	2	3	269	1	0	0	0	0	0	0	0	1	3168	291	11	3		3	CDNF	10	14867563	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7654657	14867563	120667184	453	133101											
NEBL	10529	broad.mit.edu	37	chr10	21129726	21129726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagaacttctgaattaAgttccattcctttccctttt	3	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:21129726A>C	uc001iqi.2	-	13	1677	c.1280T>G	c.(1279-1281)CTT>CGT	p.L427R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	427	Nebulin 12.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TTCTGAATTAAGTTCCATTCC	0.323													C	21129726	A	C	21129726	3	2	269	1	0	0	0	0	1	0	0	0	10303	72	3	5	1828	5	NEBL	10	21129726	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	6262163	21129726	114405021	454	133102											
C10orf140	387640	broad.mit.edu	37	chr10	21805290	21805290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcagcggcggcggaggCcagatggtacaagaagttgg	19	7	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:21805290C>T	uc009xkd.2	-	4	3715	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	407	Poly-Ala.					nucleus	nucleotide binding			ovary(1)	1						GCGGCGGAGGCCAGATGGTAC	0.627													T	21805290	C	T	21805290	3	4	269	1	0	0	0	0	1	0	0	0	1595	739	26	2	1268	2	C10orf140	10	21805290	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	675564	21805290	113729457	455	133103											
C10orf140	387640	broad.mit.edu	37	chr10	21805305	21805305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccagatggtacaagaAgttggcctgcgcctgcacgc	15	11	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:21805305A>C	uc009xkd.2	-	4	3700	c.1447T>G	c.(1447-1449)TTC>GTC	p.F483V	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	402						nucleus	nucleotide binding			ovary(1)	1						TGGTACAAGAAGTTGGCCTGC	0.622													C	21805305	A	C	21805305	3	2	269	1	0	0	0	0	1	0	0	0	1595	72	3	5	1283	5	C10orf140	10	21805305	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	15	21805305	113729442	456	133104											
ZNF33B	7582	broad.mit.edu	37	chr10	43089768	43089768	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggtctaaagtttgaatcttCtcatgctgcaaagtgttctc	8	8	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:43089768C>G	uc001jaf.1	-	5	745	c.630G>C	c.(628-630)GAG>GAC	p.E210D	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E98D|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTTGAATCTTCTCATGCTGCA	0.363													G	43089768	C	G	43089768	3	3	269	1	0	0	0	0	1	0	0	0	17852	912	32	5	1710	5	ZNF33B	10	43089768	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	21284463	43089768	92444979	457	133105											
PCDH15	65217	broad.mit.edu	37	chr10	55780134	55780134	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcacttctgggcttcTtatccggtaagacacatttg	9	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:55780134T>G	uc001jju.1	-	20	2964	c.2569A>C	c.(2569-2571)AGA>CGA	p.R857R	PCDH15_uc010qhq.1_Silent_p.R862R|PCDH15_uc010qhr.1_Silent_p.R857R|PCDH15_uc010qhs.1_Silent_p.R869R|PCDH15_uc010qht.1_Silent_p.R864R|PCDH15_uc010qhu.1_Silent_p.R857R|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.R857R|PCDH15_uc010qhw.1_Silent_p.R820R|PCDH15_uc010qhx.1_Silent_p.R786R|PCDH15_uc010qhy.1_Silent_p.R862R|PCDH15_uc010qhz.1_Silent_p.R857R|PCDH15_uc010qia.1_Silent_p.R835R|PCDH15_uc010qib.1_Silent_p.R835R|PCDH15_uc001jjw.2_Silent_p.R857R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	857	Extracellular (Potential).|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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGGGCTTCTTATCCGGTAA	0.393										HNSCC(58;0.16)			G	55780134	T	G	55780134	2	3	269	1	0	0	0	0	0	0	0	1	11511	1617	56	5		5	PCDH15	10	55780134	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12690366	55780134	79754613	458	133106											
CISD1	55847	broad.mit.edu	37	chr10	60037071	60037071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtactgccgttgttggAggtccaaaaaggtgaggaaa	14	6	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:60037071A>G	uc001jkc.3	+	2	365	c.226A>G	c.(226-228)AGG>GGG	p.R76G		NM_018464	NP_060934	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1	76	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	2 iron, 2 sulfur cluster binding|metal ion binding				0						CCGTTGTTGGAGGTCCAAAAA	0.368													G	60037071	A	G	60037071	3	3	269	1	0	0	0	0	1	0	0	0	3435	295	11	3	232	3	CISD1	10	60037071	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4256937	60037071	75497676	459	133107											
ANK3	288	broad.mit.edu	37	chr10	61815524	61815524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atactgacaggcacacagggTttagtctcttctattataag	8	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:61815524T>G	uc001jky.2	-	42	13149	c.12957A>C	c.(12955-12957)AAA>AAC	p.K4319N	ANK3_uc001jkw.2_Missense_Mutation_p.K943N|ANK3_uc009xpa.2_Missense_Mutation_p.K943N|ANK3_uc001jkx.2_Missense_Mutation_p.K987N|ANK3_uc010qih.1_Missense_Mutation_p.K1810N|ANK3_uc001jkz.3_Missense_Mutation_p.K1803N|ANK3_uc001jkv.2_Missense_Mutation_p.K342N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4319					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCACACAGGGTTTAGTCTCTT	0.453													G	61815524	T	G	61815524	3	3	269	1	0	0	0	0	1	0	0	0	622	1722	60	5	184	5	ANK3	10	61815524	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1778453	61815524	73719223	460	133108											
TET1	80312	broad.mit.edu	37	chr10	70406019	70406019	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggcagaagtgggaaaAgttgtcctatatgtatggca	13	5	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:70406019A>C	uc001jok.3	+	4	4038	c.3533A>C	c.(3532-3534)AAG>ACG	p.K1178T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1178					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AAGTGGGAAAAGTTGTCCTAT	0.398													C	70406019	A	C	70406019	3	2	269	1	0	0	0	0	1	0	0	0	15766	72	3	5	3543	5	TET1	10	70406019	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8590495	70406019	65128728	461	133109											
KIAA1274	27143	broad.mit.edu	37	chr10	72307084	72307084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgaaggtggtgcagcTgctacccgatgggcaccgtg	15	9	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:72307084T>C	uc001jrd.3	+	18	2425	c.2144T>C	c.(2143-2145)CTG>CCG	p.L715P	KIAA1274_uc001jre.3_Missense_Mutation_p.L6P	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	715										ovary(2)|central_nervous_system(1)	3						GTGGTGCAGCTGCTACCCGAT	0.597													C	72307084	T	C	72307084	3	2	269	1	0	0	0	0	1	0	0	0	8220	1580	55	3	2210	3	KIAA1274	10	72307084	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1901065	72307084	63227663	462	133110											
SGPL1	8879	broad.mit.edu	37	chr10	72637083	72637083	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaatggttctccaaaAccccactgaacttggaccct	7	13	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:72637083A>T	uc001jrm.2	+	15	1920	c.1698A>T	c.(1696-1698)AAA>AAT	p.K566N	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	566	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	GTTCTCCAAAACCCCACTGAA	0.498													T	72637083	A	T	72637083	3	4	269	1	0	0	0	0	1	0	0	0	14218	40	2	5	1752	5	SGPL1	10	72637083	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	329999	72637083	62897664	463	133111											
SLC29A3	55315	broad.mit.edu	37	chr10	73082659	73082659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaggcccgaggaccgcTtctgtggcacatacatcatc	11	13	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:73082659T>G	uc001jrr.3	+	2	205	c.148T>G	c.(148-150)TTC>GTC	p.F50V	SLC29A3_uc001jrs.3_Missense_Mutation_p.F50V|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	50	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						CGAGGACCGCTTCTGTGGCAC	0.572													G	73082659	T	G	73082659	3	3	269	1	0	0	0	0	1	0	0	0	14536	1609	56	5	154	5	SLC29A3	10	73082659	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	445576	73082659	62452088	464	133112											
KCNMA1	3778	broad.mit.edu	37	chr10	78778771	78778771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaaaataaactcttacCttttaacttctttggcatca	4	8	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:78778771C>T	uc001jxn.2	-	17	2192	c.2015G>A	c.(2014-2016)AGG>AAG	p.R672K	KCNMA1_uc001jxj.2_Missense_Mutation_p.R676K|KCNMA1_uc001jxk.1_Missense_Mutation_p.R287K|KCNMA1_uc009xrt.1_Missense_Mutation_p.R492K|KCNMA1_uc001jxl.1_Missense_Mutation_p.R326K|KCNMA1_uc001jxo.2_Missense_Mutation_p.R672K|KCNMA1_uc001jxm.2_Missense_Mutation_p.R672K|KCNMA1_uc001jxq.2_Missense_Mutation_p.R672K	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	672	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	AAACTCTTACCTTTTAACTTC	0.408													T	78778771	C	T	78778771	3	4	269	1	0	0	0	0	1	0	0	0	8073	695	24	4	1899	4	KCNMA1	10	78778771	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	5696112	78778771	56755976	465	133113											
SFTPA2	729238	broad.mit.edu	37	chr10	81317142	81317142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccagggctgggaccctcAgtcaggcctacataggcata	11	13	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:81317142A>G	uc001kal.3	-	6	667	c.570T>C	c.(568-570)ACT>ACC	p.T190T	SFTPA2_uc001kan.3_Silent_p.T190T	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	190	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	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)			TGGGACCCTCAGTCAGGCCTA	0.557									Pulmonary_Fibrosis_Idiopathic				G	81317142	A	G	81317142	2	3	269	1	0	0	0	0	0	0	0	1	14190	175	7	3		3	SFTPA2	10	81317142	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2538371	81317142	54217605	466	133114											
GRID1	2894	broad.mit.edu	37	chr10	87373285	87373285	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcgaagctgtgcagcTtgagggatttgccgtcggcc	15	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:87373285T>A	uc001kdl.1	-	15	2581	c.2480A>T	c.(2479-2481)AAG>ATG	p.K827M	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K398M	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	827	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCTGTGCAGCTTGAGGGATTT	0.652										Multiple Myeloma(13;0.14)			A	87373285	T	A	87373285	3	1	269	1	0	0	0	0	1	0	0	0	6771	1609	56	5	557	5	GRID1	10	87373285	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6056143	87373285	48161462	467	133115											
GRID1	2894	broad.mit.edu	37	chr10	87484327	87484327	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgattttctcctcgggcTtcttaattagaatccccact	6	12	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:87484327T>G	uc001kdl.1	-	11	1741	c.1640A>C	c.(1639-1641)AAG>ACG	p.K547T	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K118T	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	547	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CTCCTCGGGCTTCTTAATTAG	0.517										Multiple Myeloma(13;0.14)			G	87484327	T	G	87484327	3	3	269	1	0	0	0	0	1	0	0	0	6771	1609	56	5	1413	5	GRID1	10	87484327	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	111042	87484327	48050420	468	133116											
HECTD2	143279	broad.mit.edu	37	chr10	93247481	93247482	+	Frame_Shift_Ins	INS	-	-	A													tcgttatttctgtagctgcaINSaaaaaaatcattattcagag					rs57105282		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:93247480_93247481C>CA	uc010qnm.1	+	11	1248_1249	c.1148_1149C>CA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Ins_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Ins_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					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						TCTGTAGCTGCAAAAAAAATCA	0.317													A	93247482	-	A	93247481	7	5	269	1	0	1	1	0	0	0	0	0	7040	117	5	0	1203	0	HECTD2	10	93247481	Frame_Shift_Ins	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	5763154	93247481	42287266	469	133117											
HECTD2	143279	broad.mit.edu	37	chr10	93257892	93257892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatggattaagtgaactcTtatcacatgaaggcaatgtt	8	8	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:93257892T>G	uc001khl.2	+	16	1808	c.1708T>G	c.(1708-1710)TTA>GTA	p.L570V	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.L574V|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Missense_Mutation_p.L159V|HECTD2_uc001khn.1_Missense_Mutation_p.L220V	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	570	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						AAGTGAACTCTTATCACATGA	0.303													G	93257892	T	G	93257892	3	3	269	1	0	0	0	0	1	0	0	0	7040	1606	56	5	1794	5	HECTD2	10	93257892	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	10411	93257892	42276855	470	133118											
IDE	3416	broad.mit.edu	37	chr10	94268496	94268496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacttaccctttgacttaAgttctgataacagacttcca	6	10	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:94268496A>C	uc001kia.2	-	7	1125	c.1049T>G	c.(1048-1050)CTT>CGT	p.L350R		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	350					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			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTGACTTAAGTTCTGATAA	0.428													C	94268496	A	C	94268496	3	2	269	1	0	0	0	0	1	0	0	0	7493	72	3	5	2086	5	IDE	10	94268496	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1010604	94268496	41266251	471	133119											
EXOC6	54536	broad.mit.edu	37	chr10	94714421	94714421	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgatatgcttagaaaatcaAcaaatctgctgctgaccaga	7	9	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:94714421A>C	uc001kig.2	+	16	1627	c.1561A>C	c.(1561-1563)ACA>CCA	p.T521P	EXOC6_uc010qnr.1_Missense_Mutation_p.T537P|EXOC6_uc001kie.2_Missense_Mutation_p.T516P|EXOC6_uc009xub.2_Missense_Mutation_p.T520P|EXOC6_uc009xuc.2_Missense_Mutation_p.T418P|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.T95P	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	521					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				TAGAAAATCAACAAATCTGCT	0.303													C	94714421	A	C	94714421	3	2	269	1	0	0	0	0	1	0	0	0	5308	43	2	5	1713	5	EXOC6	10	94714421	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	445925	94714421	40820326	472	133120											
RRP12	23223	broad.mit.edu	37	chr10	99150259	99150259	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtagccccaggcctccaggTcttgcttccgcagaagggtg	14	13	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:99150259T>A	uc001knf.2	-	6	813	c.674A>T	c.(673-675)GAC>GTC	p.D225V	RRP12_uc009xvm.2_Missense_Mutation_p.D31V|RRP12_uc010qou.1_Missense_Mutation_p.D164V|RRP12_uc009xvn.2_Intron	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	225						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGCCTCCAGGTCTTGCTTCCG	0.612													A	99150259	T	A	99150259	3	1	269	1	0	0	0	0	1	0	0	0	13686	1667	58	5	3335	5	RRP12	10	99150259	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4435838	99150259	36384488	473	133121											
DNMBP	23268	broad.mit.edu	37	chr10	101716033	101716033	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggtcagatgtgggagAgtctgtggcaagaggcattt	17	4	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:101716033A>T	uc001kqj.2	-	4	1290	c.1198T>A	c.(1198-1200)TCT>ACT	p.S400T	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	400					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATGTGGGAGAGTCTGTGGCA	0.512													T	101716033	A	T	101716033	3	4	269	1	0	0	0	0	1	0	0	0	4674	304	11	5	3591	5	DNMBP	10	101716033	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2565774	101716033	33818714	474	133122											
NOLC1	9221	broad.mit.edu	37	chr10	103916821	103916821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttagacatctatagcTtctggctcaagtaagccttt	6	12	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:103916821T>G	uc001kuo.2	+	2	401	c.166T>G	c.(166-168)TTC>GTC	p.F56V	NOLC1_uc001kup.2_Missense_Mutation_p.F56V|NOLC1_uc001kuq.2_Missense_Mutation_p.F56V|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	56					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CATCTATAGCTTCTGGCTCAA	0.443													G	103916821	T	G	103916821	3	3	269	1	0	0	0	0	1	0	0	0	10529	1609	56	5	172	5	NOLC1	10	103916821	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2200788	103916821	31617926	475	133123											
INA	9118	broad.mit.edu	37	chr10	105048263	105048263	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccactgggctatcacTtaagaaagaggaggaggagg	13	8	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:105048263T>G	uc001kws.2	+	3	1386	c.1337T>G	c.(1336-1338)CTT>CGT	p.L446R		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	446	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGCTATCACTTAAGAAAGAG	0.463													G	105048263	T	G	105048263	3	3	269	1	0	0	0	0	1	0	0	0	7730	1609	56	5	1347	5	INA	10	105048263	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1131442	105048263	30486484	476	133124											
COL17A1	1308	broad.mit.edu	37	chr10	105807556	105807556	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggattccaggcatcccagtaAgaccttgttcacctagagag	10	11	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:105807556A>T	uc001kxr.2	-	31	2445	c.2276T>A	c.(2275-2277)CTT>CAT	p.L759H		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	759	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		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)		CATCCCAGTAAGACCTTGTTC	0.488													T	105807556	A	T	105807556	3	4	269	1	0	0	0	0	1	0	0	0	3674	72	3	5	2321	5	COL17A1	10	105807556	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	759293	105807556	29727191	477	133125											
DUSP5	1847	broad.mit.edu	37	chr10	112269879	112269879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttatgaagaccaagcagTtccgcctgaaggaggccttc	10	12	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:112269879T>G	uc001kzd.2	+	4	1105	c.850T>G	c.(850-852)TTC>GTC	p.F284V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	284	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GACCAAGCAGTTCCGCCTGAA	0.552													G	112269879	T	G	112269879	3	3	269	1	0	0	0	0	1	0	0	0	4828	1725	60	5	864	5	DUSP5	10	112269879	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6462323	112269879	23264868	478	133126											
FGFR2	2263	broad.mit.edu	37	chr10	123246922	123246922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctggagccatccacTtgactggaagccgcccctgc	12	15	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:123246922T>G	uc010qtk.1	-	16	2650	c.2003A>C	c.(2002-2004)AAG>ACG	p.K668T	FGFR2_uc010qtg.1_Missense_Mutation_p.K556T|FGFR2_uc010qth.1_Missense_Mutation_p.K553T|FGFR2_uc010qti.1_Missense_Mutation_p.K579T|FGFR2_uc010qtj.1_Missense_Mutation_p.K669T|FGFR2_uc010qtl.1_Missense_Mutation_p.K552T|FGFR2_uc010qtm.1_Missense_Mutation_p.K551T|FGFR2_uc001lfl.3_Missense_Mutation_p.K669T|FGFR2_uc001lfm.2_Missense_Mutation_p.K580T|FGFR2_uc001lfg.3_Missense_Mutation_p.K276T	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	668	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGCCATCCACTTGACTGGAAG	0.423		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				G	123246922	T	G	123246922	3	3	269	1	0	0	0	0	1	0	0	0	5866	1609	56	5	582	5	FGFR2	10	123246922	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	10977043	123246922	12287825	479	133127											
TACC2	10579	broad.mit.edu	37	chr10	123976324	123976324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttgtaaacgagaccaaAttcagttcacccactgaggg	8	11	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr10:123976324A>C	uc001lfv.2	+	11	7887	c.7527A>C	c.(7525-7527)AAA>AAC	p.K2509N	TACC2_uc001lfw.2_Missense_Mutation_p.K655N|TACC2_uc009xzx.2_Missense_Mutation_p.K2464N|TACC2_uc010qtv.1_Missense_Mutation_p.K2513N|TACC2_uc001lfx.2_Missense_Mutation_p.K213N|TACC2_uc001lfy.2_Missense_Mutation_p.K209N|TACC2_uc001lfz.2_Missense_Mutation_p.K587N|TACC2_uc001lga.2_Missense_Mutation_p.K587N|TACC2_uc009xzy.2_Missense_Mutation_p.K599N|TACC2_uc001lgb.2_Missense_Mutation_p.K544N|TACC2_uc010qtw.1_Missense_Mutation_p.K604N	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2509						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGAGACCAAATTCAGTTCAC	0.562													C	123976324	A	C	123976324	3	2	269	1	0	0	0	0	1	0	0	0	15499	98	4	5	7637	5	TACC2	10	123976324	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	729402	123976324	11558423	480	133128											
ATHL1	80162	broad.mit.edu	37	chr11	294177	294177	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctgcaggcggtggtcTtcgggtgcacggggttcagg	18	10	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:294177T>G	uc010qvu.1	+	12	1904	c.1789T>G	c.(1789-1791)TTC>GTC	p.F597V	ATHL1_uc001lor.3_Missense_Mutation_p.F349V|ATHL1_uc001lou.3_Missense_Mutation_p.F172V|ATHL1_uc001lov.3_Missense_Mutation_p.F58V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	597					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCGGTGGTCTTCGGGTGCAC	0.657													G	294177	T	G	294177	3	3	269	1	0	0	0	0	1	0	0	0	1104	1609	56	5	1831	5	ATHL1	11	294177	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		294177	134712339	481	133129											
PGAP2	27315	broad.mit.edu	37	chr11	3838667	3838667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcgcttcacagccatgGtctggtgggccatcactttt	11	12	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:3838667G>A	uc001lys.2	+	3	376	c.250G>A	c.(250-252)GTC>ATC	p.V84I	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Missense_Mutation_p.V141I|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	84					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						CACAGCCATGGTCTGGTGGGC	0.592													A	3838667	G	A	3838667	3	1	269	1	0	0	0	0	1	0	0	0	11778	1261	44	4	435	4	PGAP2	11	3838667	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	3544490	3838667	131167849	482	133130											
OR52E8	390079	broad.mit.edu	37	chr11	5878214	5878214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgttgagagctttgAgtcgagcttcccaggagggc	15	9	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:5878214A>C	uc010qzr.1	-	1	719	c.719T>G	c.(718-720)CTC>CGC	p.L240R	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		GAGAGCTTTGAGTCGAGCTTC	0.418													C	5878214	A	C	5878214	3	2	269	1	0	0	0	0	1	0	0	0	11118	304	11	5	236	5	OR52E8	11	5878214	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2039547	5878214	129128302	483	133131											
OR56B4	196335	broad.mit.edu	37	chr11	6129691	6129691	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctatgctgtaatccTtcactctgtgctgaggctga	8	11	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:6129691T>G	uc010qzx.1	+	1	683	c.683T>G	c.(682-684)CTT>CGT	p.L228R		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		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)		GCTGTAATCCTTCACTCTGTG	0.463													G	6129691	T	G	6129691	3	3	269	1	0	0	0	0	1	0	0	0	11138	1609	56	5	685	5	OR56B4	11	6129691	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	251477	6129691	128876825	484	133132											
DCHS1	8642	broad.mit.edu	37	chr11	6645019	6645019	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggccatgagggccagggtCagcgtcagaggcctctacat	15	11	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:6645019C>A	uc001mem.1	-	21	8298	c.7888G>T	c.(7888-7890)GAC>TAC	p.D2630Y		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2630	Cadherin 25.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCAGGGTCAGCGTCAGAG	0.592													A	6645019	C	A	6645019	3	1	269	1	0	0	0	0	1	0	0	0	4287	826	29	5	2012	5	DCHS1	11	6645019	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	515328	6645019	128361497	485	133133											
ST5	6764	broad.mit.edu	37	chr11	8752501	8752501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacactttccttttgggcGtctctcttgcacgccgaagg	11	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:8752501G>A	uc001mgt.2	-	3	522	c.336C>T	c.(334-336)GAC>GAT	p.D112D	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.D112D|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.D112D	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	112					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTTTTGGGCGTCTCTCTTGC	0.617													A	8752501	G	A	8752501	2	1	269	1	0	0	0	0	0	0	0	1	15219	1136	40	1		1	ST5	11	8752501	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2107482	8752501	126254015	486	133134											
ZNF143	7702	broad.mit.edu	37	chr11	9492969	9492969	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagtcaccgtggcaggTgagcagttgtgtttgaaggg	18	6	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:9492969T>C	uc001mhr.2	+	2	230	c.112_splice	c.e2+2	p.D38_splice	ZNF143_uc009yfu.2_Splice_Site_p.D38_splice|ZNF143_uc010rby.1_Splice_Site_p.D38_splice	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143						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	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CCGTGGCAGGTGAGCAGTTGT	0.403													C	9492969	T	C	9492969	5	2	269	1	0	0	0	0	0	0	1	0	17729	1710	59	3	116	3	ZNF143	11	9492969	Splice_Site	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	740468	9492969	125513547	487	133135											
ARNTL	406	broad.mit.edu	37	chr11	13381932	13381932	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaactacaaaccaacTtttctatcagacgatgaatt	5	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:13381932T>G	uc001mkr.2	+	9	828	c.420T>G	c.(418-420)ACT>ACG	p.T140T	ARNTL_uc001mko.2_Silent_p.T97T|ARNTL_uc001mkp.2_Silent_p.T140T|ARNTL_uc001mkq.2_Silent_p.T140T|ARNTL_uc001mks.2_Silent_p.T97T|ARNTL_uc001mkt.2_Silent_p.T140T|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Silent_p.T97T|ARNTL_uc001mkv.1_Silent_p.T97T|ARNTL_uc001mkw.2_Silent_p.T97T|ARNTL_uc001mkx.2_Silent_p.T138T	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	140					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				0				Epithelial(150;0.0243)		ACAAACCAACTTTTCTATCAG	0.338													G	13381932	T	G	13381932	2	3	269	1	0	0	0	0	0	0	0	1	967	1596	56	5		5	ARNTL	11	13381932	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3888963	13381932	121624584	488	133136											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077439	19077439	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaccatcactaaataAgaagccacagaacttccctt	5	12	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:19077439A>T	uc001mph.2	-	2	599	c.511T>A	c.(511-513)TTA>ATA	p.L171I		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	171	Extracellular (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						TCACTAAATAAGAAGCCACAG	0.532													T	19077439	A	T	19077439	3	4	269	1	0	0	0	0	1	0	0	0	9767	69	3	5	485	5	MRGPRX2	11	19077439	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5695507	19077439	115929077	489	133137											
ZDHHC13	54503	broad.mit.edu	37	chr11	19164601	19164601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatgaaaacaaagaacTtgccaatgcaagagaagctc	8	9	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:19164601T>C	uc001mpi.2	+	2	209	c.104T>C	c.(103-105)CTT>CCT	p.L35P	ZDHHC13_uc001mpj.2_Intron	NM_019028	NP_061901	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC domain containing 13 isoform	35					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding				0						AACAAAGAACTTGCCAATGCA	0.438													C	19164601	T	C	19164601	3	2	269	1	0	0	0	0	1	0	0	0	17600	1609	56	3	110	3	ZDHHC13	11	19164601	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	87162	19164601	115841915	490	133138											
NAV2	89797	broad.mit.edu	37	chr11	20122681	20122681	+	Frame_Shift_Del	DEL	T	T	-													acgggagttgacagacggggTtatcgccacctttaacgtgg							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:20122681delT	uc001mpr.3	+	32	6750	c.6389delT	c.(6388-6390)GTTfs	p.V2130fs	NAV2_uc001mpp.2_Frame_Shift_Del_p.V2063fs|NAV2_uc009yhx.2_Frame_Shift_Del_p.V1191fs|NAV2_uc009yhz.2_Frame_Shift_Del_p.V772fs|NAV2_uc001mpu.2_Frame_Shift_Del_p.V565fs	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2186						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						ACAGACGGGGTTATCGCCACC	0.512													-	20122681	T	-	20122681	7	5	269	1	0	1	0	1	0	0	0	0	10184	1725	60	0	6624	0	NAV2	11	20122681	Frame_Shift_Del	DEL	T	TCGA-HU-A4GH-01A-11D-A24D-08	958080	20122681	114883835	491	133139											
NELL1	4745	broad.mit.edu	37	chr11	21592445	21592445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaagctgtatcgaagtGgagacaattggacccatagc	11	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:21592445G>A	uc001mqe.2	+	18	2269	c.2116G>A	c.(2116-2118)GGA>AGA	p.G706R	NELL1_uc001mqf.2_Missense_Mutation_p.G659R|NELL1_uc009yid.2_Missense_Mutation_p.G734R|NELL1_uc010rdo.1_Missense_Mutation_p.G649R|NELL1_uc010rdp.1_Missense_Mutation_p.G419R|NELL1_uc001mqh.2_Missense_Mutation_p.G251R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	706	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTATCGAAGTGGAGACAATTG	0.443													A	21592445	G	A	21592445	3	1	269	1	0	0	0	0	1	0	0	0	10333	1349	47	4	2186	4	NELL1	11	21592445	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1469764	21592445	113414071	492	133140											
PDHX	8050	broad.mit.edu	37	chr11	34988225	34988225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgaaacaaacgggcaAgattaccgagtccagaccaa	9	11	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:34988225A>G	uc001mvt.2	+	6	1206	c.680A>G	c.(679-681)AAG>AGG	p.K227R	PDHX_uc010rep.1_Missense_Mutation_p.K212R|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	227					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CAAACGGGCAAGATTACCGAG	0.493													G	34988225	A	G	34988225	3	3	269	1	0	0	0	0	1	0	0	0	11667	72	3	3	821	3	PDHX	11	34988225	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	13395780	34988225	100018291	493	133141											
ACCS	84680	broad.mit.edu	37	chr11	44104811	44104811	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcttagggcattggggatcCccttcttgagtcgtggggct	15	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:44104811C>G	uc009yks.1	+	13	1348	c.1204C>G	c.(1204-1206)CCC>GCC	p.P402A	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.P402A	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	402							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						ATTGGGGATCCCCTTCTTGAG	0.562													G	44104811	C	G	44104811	3	3	269	1	0	0	0	0	1	0	0	0	133	623	22	5	1250	5	ACCS	11	44104811	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	9116586	44104811	90901705	494	133142											
EXT2	2132	broad.mit.edu	37	chr11	44265716	44265716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtcagagtgcatcaacaAgtttgcttcagtcttcggga	11	9	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:44265716A>C	uc001mxz.2	+	14	2370	c.2036A>C	c.(2035-2037)AAG>ACG	p.K679T	EXT2_uc010rfo.1_Missense_Mutation_p.K707T|EXT2_uc001mxy.2_Missense_Mutation_p.K692T|EXT2_uc009ykt.2_Missense_Mutation_p.K689T|EXT2_uc001mya.2_Missense_Mutation_p.K712T	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	679	Lumenal (Potential).				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			lung(2)|breast(2)|skin(1)	5						TGCATCAACAAGTTTGCTTCA	0.517			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				C	44265716	A	C	44265716	3	2	269	1	0	0	0	0	1	0	0	0	5324	72	3	5	2286	5	EXT2	11	44265716	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	160905	44265716	90740800	495	133143											
ZNF408	79797	broad.mit.edu	37	chr11	46724676	46724676	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccttcctctgagggcccaAgtctcacccagcctgggctg	11	16	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:46724676A>T	uc001nde.1	+	4	765	c.535A>T	c.(535-537)AGT>TGT	p.S179C	ARHGAP1_uc001ndd.2_5'Flank|ARHGAP1_uc009yle.1_5'Flank|ARHGAP1_uc009ylf.1_5'Flank|ZNF408_uc010rgw.1_Missense_Mutation_p.S171C	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						TGAGGGCCCAAGTCTCACCCA	0.617													T	46724676	A	T	46724676	3	4	269	1	0	0	0	0	1	0	0	0	17885	72	3	5	581	5	ZNF408	11	46724676	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2458960	46724676	88281840	496	133144											
F2	2147	broad.mit.edu	37	chr11	46740791	46740791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgacacactatggcGcacgtccgaggcttgcagct	13	12	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:46740791G>A	uc001ndf.3	+	1	49	c.6G>A	c.(4-6)GCG>GCA	p.A2A	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	2					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		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)	ACACTATGGCGCACGTCCGAG	0.577													A	46740791	G	A	46740791	2	1	269	1	0	0	0	0	0	0	0	1	5342	1074	38	1		1	F2	11	46740791	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	16115	46740791	88265725	497	133145											
RAPSN	5913	broad.mit.edu	37	chr11	47464290	47464290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actggctcatggcccggtacTtcaggctccagcctttgcca	10	15	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:47464290T>G	uc001nfi.1	-	3	822	c.608A>C	c.(607-609)AAG>ACG	p.K203T	RAPSN_uc001nfj.1_Missense_Mutation_p.K203T|RAPSN_uc009yls.1_Missense_Mutation_p.K203T	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	203					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						GGCCCGGTACTTCAGGCTCCA	0.617													G	47464290	T	G	47464290	3	3	269	1	0	0	0	0	1	0	0	0	13051	1609	56	5	654	5	RAPSN	11	47464290	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	723499	47464290	87542226	498	133146											
OR4X2	119764	broad.mit.edu	37	chr11	48267363	48267363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccacctgtgggtcccatttCgctgtggttatcttgttctt	9	11	2	0	rs144663280	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:48267363C>A	uc001ngs.1	+	1	708	c.708C>A	c.(706-708)TTC>TTA	p.F236L		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	236	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGTCCCATTTCGCTGTGGTTA	0.522													A	48267363	C	A	48267363	3	1	269	1	0	0	0	0	1	0	0	0	11085	883	31	5	710	5	OR4X2	11	48267363	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	803073	48267363	86739153	499	133147											
OR4A47	403253	broad.mit.edu	37	chr11	48510658	48510658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctttatcgagcacatttTcggtgggtcagaggtctttc	11	9	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:48510658T>C	uc010rhx.1	+	1	314	c.314T>C	c.(313-315)TTC>TCC	p.F105S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAGCACATTTTCGGTGGGTCA	0.453													C	48510658	T	C	48510658	3	2	269	1	0	0	0	0	1	0	0	0	11042	1783	62	3	316	3	OR4A47	11	48510658	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	243295	48510658	86495858	500	133148											
OR4A15	81328	broad.mit.edu	37	chr11	55135520	55135520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctgaggggcaaaaggTtttatttgtcacattcttac	9	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:55135520T>G	uc010rif.1	+	1	161	c.161T>G	c.(160-162)GTT>GGT	p.V54G		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	54	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGGCAAAAGGTTTTATTTGTC	0.448													G	55135520	T	G	55135520	3	3	269	1	0	0	0	0	1	0	0	0	11040	1725	60	5	163	5	OR4A15	11	55135520	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6624862	55135520	79870996	501	133149											
OR4C6	219432	broad.mit.edu	37	chr11	55432732	55432732	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattttctgctgtgtttctTgtcatgtatgtagccacagt	8	7	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:55432732T>C	uc001nht.3	+	3	355	c.90T>C	c.(88-90)CTT>CTC	p.L30L	OR4C6_uc010rik.1_Silent_p.L30L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CTGTGTTTCTTGTCATGTATG	0.378													C	55432732	T	C	55432732	2	2	269	1	0	0	0	0	0	0	0	1	11052	1799	63	3		3	OR4C6	11	55432732	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	297212	55432732	79573784	502	133150											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-													caacctggtgtctctgagacAgaagaagtggccttgcagcc							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:57466855_57466857delAGA	uc001nkx.1	+	11	3203_3205	c.1947_1949delAGA	c.(1945-1950)ACAGAA>ACA	p.E651del	ZDHHC5_uc001nky.1_In_Frame_Del_p.E598del|ZDHHC5_uc001nkz.1_In_Frame_Del_p.E465del	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	651						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						TCTCTGAGACAGAAGAAGTGGCC	0.512													-	57466857	AGA	-	57466855	7	5	269	1	0	1	0	1	0	0	0	0	17615	175	7	0	1985	0	ZDHHC5	11	57466855	In_Frame_Del	DEL	AGA	TCGA-HU-A4GH-01A-11D-A24D-08	2034123	57466855	77539661	503	133151											
OR5A2	219981	broad.mit.edu	37	chr11	59190129	59190129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaagacaaagtactgagTggcacagccaacaaaggaaa	10	8	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:59190129T>C	uc010rkt.1	-	1	298	c.298A>G	c.(298-300)ACT>GCT	p.T100A		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGTACTGAGTGGCACAGCCA	0.512													C	59190129	T	C	59190129	3	2	269	1	0	0	0	0	1	0	0	0	11140	1696	59	3	678	3	OR5A2	11	59190129	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1723274	59190129	75816387	504	133152											
OSBP	5007	broad.mit.edu	37	chr11	59344127	59344127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctataaatatgggttaActccttggtaacagggtcct	8	10	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:59344127A>C	uc001noc.1	-	14	2827	c.2347T>G	c.(2347-2349)TTA>GTA	p.L783V		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	783					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATATGGGTTAACTCCTTGGTA	0.423													C	59344127	A	C	59344127	3	2	269	1	0	0	0	0	1	0	0	0	11273	40	2	5	80	5	OSBP	11	59344127	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	153998	59344127	75662389	505	133153											
MS4A6A	64231	broad.mit.edu	37	chr11	59949127	59949127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttggtgggttcgggtttcTctgcttgggagaagttgatg	18	4	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:59949127T>C	uc001nor.2	-	2	312	c.74A>G	c.(73-75)GAG>GGG	p.E25G	MS4A6A_uc001noq.2_Missense_Mutation_p.E25G|MS4A6A_uc001nos.3_Missense_Mutation_p.E53G|MS4A6A_uc009ymv.2_Missense_Mutation_p.E25G|MS4A6A_uc001not.2_Missense_Mutation_p.E25G|MS4A6A_uc010rla.1_Missense_Mutation_p.E53G|MS4A6A_uc010rlb.1_Missense_Mutation_p.E25G	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	25	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						TTCGGGTTTCTCTGCTTGGGA	0.443													C	59949127	T	C	59949127	3	2	269	1	0	0	0	0	1	0	0	0	9864	1551	54	3	723	3	MS4A6A	11	59949127	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	605000	59949127	75057389	506	133154											
MS4A10	341116	broad.mit.edu	37	chr11	60561446	60561446	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatttttcacctatagaAgatgttgtgcctgatgacaa	7	7	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:60561446A>C	uc001npz.1	+	5	458	c.362A>C	c.(361-363)AAG>ACG	p.K121T		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	121	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						CACCTATAGAAGATGTTGTGC	0.512													C	60561446	A	C	60561446	3	2	269	1	0	0	0	0	1	0	0	0	9855	86	3	5	376	5	MS4A10	11	60561446	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	612319	60561446	74445070	507	133155											
SCGB1D1	10648	broad.mit.edu	37	chr11	61959609	61959609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgttcaagttccaacTtgccaaatttaaggcacctc	6	12	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:61959609T>C	uc001nsz.1	+	2	184	c.137T>C	c.(136-138)CTT>CCT	p.L46P		NM_006552	NP_006543	O95968	SG1D1_HUMAN	lipophilin A precursor	46						extracellular space	binding			skin(1)	1						AAGTTCCAACTTGCCAAATTT	0.423													C	61959609	T	C	61959609	3	2	269	1	0	0	0	0	1	0	0	0	13896	1609	56	3	143	3	SCGB1D1	11	61959609	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1398163	61959609	73046907	508	133156											
AHNAK	79026	broad.mit.edu	37	chr11	62300884	62300884	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtgccccacagagacTtcaggtgcagaaaccctcag	9	15	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:62300884T>G	uc001ntl.2	-	5	1305	c.1005A>C	c.(1003-1005)GAA>GAC	p.E335D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	335					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCACAGAGACTTCAGGTGCAG	0.552													G	62300884	T	G	62300884	3	3	269	1	0	0	0	0	1	0	0	0	414	1606	56	5	16787	5	AHNAK	11	62300884	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	341275	62300884	72705632	509	133157											
SLC22A6	9356	broad.mit.edu	37	chr11	62749434	62749434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgtagacatagccaAtcaaggtgcccacgcaggcc	11	14	1	1	rs11568623		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:62749434A>C	uc001nwk.2	-	4	984	c.677T>G	c.(676-678)ATT>AGT	p.I226S	SLC22A6_uc001nwl.2_Missense_Mutation_p.I226S|SLC22A6_uc001nwj.2_Missense_Mutation_p.I226S|SLC22A6_uc001nwm.2_Missense_Mutation_p.I226S	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	226	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						GACATAGCCAATCAAGGTGCC	0.592													C	62749434	A	C	62749434	3	2	269	1	0	0	0	0	1	0	0	0	14458	101	4	5	1042	5	SLC22A6	11	62749434	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	448550	62749434	72257082	510	133158											
RASGRP2	10235	broad.mit.edu	37	chr11	64502684	64502684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatccccatcgacgtcaaAgttccggaacacagactggg	10	14	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:64502684A>C	uc009ypu.2	-	12	1539	c.1312T>G	c.(1312-1314)TTT>GTT	p.F438V	RASGRP2_uc001oat.2_Missense_Mutation_p.F340V|RASGRP2_uc001oau.2_Missense_Mutation_p.F293V|RASGRP2_uc009ypv.2_Missense_Mutation_p.F438V|RASGRP2_uc009ypw.2_Missense_Mutation_p.F438V	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	438	EF-hand 1.				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				0						TCGACGTCAAAGTTCCGGAAC	0.577													C	64502684	A	C	64502684	3	2	269	1	0	0	0	0	1	0	0	0	13075	72	3	5	537	5	RASGRP2	11	64502684	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1753250	64502684	70503832	511	133159											
NAALADL1	10004	broad.mit.edu	37	chr11	64822016	64822016	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggtccacgcggaaggaAgaggggacggctggaaggta	19	7	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:64822016A>G	uc001ocn.2	-	5	814	c.798T>C	c.(796-798)TCT>TCC	p.S266S	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	266	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						CGCGGAAGGAAGAGGGGACGG	0.577													G	64822016	A	G	64822016	2	3	269	1	0	0	0	0	0	0	0	1	10129	59	3	3		3	NAALADL1	11	64822016	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	319332	64822016	70184500	512	133160											
SLC25A45	283130	broad.mit.edu	37	chr11	65146879	65146879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgcagcccgctaggaAgatgtgcatgtagctgggcg	16	11	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:65146879A>C	uc001odp.1	-	4	729	c.307T>G	c.(307-309)TTC>GTC	p.F103V	SLC25A45_uc009yqi.1_Intron|SLC25A45_uc001odq.1_Missense_Mutation_p.F79V|SLC25A45_uc001odr.1_Missense_Mutation_p.F103V|SLC25A45_uc001ods.1_Missense_Mutation_p.F61V|SLC25A45_uc001odt.1_Missense_Mutation_p.F61V	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	103	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						CCCGCTAGGAAGATGTGCATG	0.632													C	65146879	A	C	65146879	3	2	269	1	0	0	0	0	1	0	0	0	14510	72	3	5	571	5	SLC25A45	11	65146879	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	324863	65146879	69859637	513	133161											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714797	65714797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaagacagaggcgcaAaacctgaaggcgagacagca	14	9	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:65714797A>G	uc001ogk.1	+	5	533	c.501A>G	c.(499-501)CAA>CAG	p.Q167Q	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	167											0						CAGAGGCGCAAAACCTGAAGG	0.652													G	65714797	A	G	65714797	2	3	269	1	0	0	0	0	0	0	0	1	16615	11	1	3		3	TSGA10IP	11	65714797	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	567918	65714797	69291719	514	133162											
NPAS4	266743	broad.mit.edu	37	chr11	66190308	66190308	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccctctggagccgagAccccgcccaggtcctggccc	12	19	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:66190308A>T	uc001ohx.1	+	4	770	c.594A>T	c.(592-594)AGA>AGT	p.R198S	NPAS4_uc010rpc.1_Missense_Mutation_p.D25V	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	198					transcription, DNA-dependent		DNA binding|signal transducer activity				0						TGGAGCCGAGACCCCGCCCAG	0.622													T	66190308	A	T	66190308	3	4	269	1	0	0	0	0	1	0	0	0	10565	272	10	5	608	5	NPAS4	11	66190308	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	475511	66190308	68816208	515	133163											
NPAS4	266743	broad.mit.edu	37	chr11	66192045	66192045	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccctaccaagacttacTttgcccaggagggatgcagt	9	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:66192045T>G	uc001ohx.1	+	7	1860	c.1684T>G	c.(1684-1686)TTT>GTT	p.F562V	NPAS4_uc010rpc.1_Missense_Mutation_p.F352V	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	562					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CAAGACTTACTTTGCCCAGGA	0.577													G	66192045	T	G	66192045	3	3	269	1	0	0	0	0	1	0	0	0	10565	1609	56	5	1710	5	NPAS4	11	66192045	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1737	66192045	68814471	516	133164											
CABP2	51475	broad.mit.edu	37	chr11	67287296	67287296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccgtccccattgaggTccacgtcctggaggatctcg	11	15	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:67287296T>C	uc001omc.1	-	6	707	c.605A>G	c.(604-606)GAC>GGC	p.D202G	CABP2_uc001omd.1_Missense_Mutation_p.D145G|CABP2_uc001ome.1_Missense_Mutation_p.D208G	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	202	EF-hand 4.|3 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						CCCATTGAGGTCCACGTCCTG	0.657													C	67287296	T	C	67287296	3	2	269	1	0	0	0	0	1	0	0	0	2532	1667	58	3	65	3	CABP2	11	67287296	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1095251	67287296	67719220	517	133165											
PPFIA1	8500	broad.mit.edu	37	chr11	70218481	70218481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgagggcagctgaaaatggTcgacagttttcacaggtaac	12	8	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:70218481T>G	uc001opo.2	+	22	3224	c.3026T>G	c.(3025-3027)GTC>GGC	p.V1009G	PPFIA1_uc001opn.1_Missense_Mutation_p.V1009G|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Missense_Mutation_p.V148G|PPFIA1_uc001ops.2_Missense_Mutation_p.V48G	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	1009	SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTGAAAATGGTCGACAGTTTT	0.443													G	70218481	T	G	70218481	3	3	269	1	0	0	0	0	1	0	0	0	12309	1667	58	5	3108	5	PPFIA1	11	70218481	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2931185	70218481	64788035	518	133166											
SHANK2	22941	broad.mit.edu	37	chr11	70331991	70331991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggcaggcagacagttTgaaagactggctggcttctt	13	7	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:70331991T>C	uc001oqc.2	-	21	4485	c.4407A>G	c.(4405-4407)TCA>TCG	p.S1469S	SHANK2_uc010rqn.1_Silent_p.S881S|SHANK2_uc001opz.2_Silent_p.S874S|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1090					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCAGACAGTTTGAAAGACTGG	0.572													C	70331991	T	C	70331991	2	2	269	1	0	0	0	0	0	0	0	1	14265	1799	63	3		3	SHANK2	11	70331991	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	113510	70331991	64674525	519	133167											
NUMA1	4926	broad.mit.edu	37	chr11	71715136	71715136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggccatcgactggcGccggtcagcctgcaaggaag	15	12	1	1	rs113245212		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:71715136G>A	uc001orl.1	-	26	6305	c.6133C>T	c.(6133-6135)CGC>TGC	p.R2045C	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R227C|NUMA1_uc009ysw.1_Missense_Mutation_p.R1612C|NUMA1_uc001ork.1_Missense_Mutation_p.R909C|NUMA1_uc001orm.1_Missense_Mutation_p.R2031C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2045					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						ATCGACTGGCGCCGGTCAGCC	0.637			T	RARA	APL								A	71715136	G	A	71715136	3	1	269	1	0	0	0	0	1	0	0	0	10750	1087	38	1	222	1	NUMA1	11	71715136	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1383145	71715136	63291380	520	133168											
ARHGEF17	9828	broad.mit.edu	37	chr11	73022308	73022308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggcagagccagaagaAcctggtgccaccaggagccg	15	13	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:73022308A>C	uc001otu.2	+	1	2646	c.2625A>C	c.(2623-2625)GAA>GAC	p.E875D		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	875					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				0						AGCCAGAAGAACCTGGTGCCA	0.642													C	73022308	A	C	73022308	3	2	269	1	0	0	0	0	1	0	0	0	900	40	2	5	2627	5	ARHGEF17	11	73022308	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1307172	73022308	61984208	521	133169											
FAM168A	23201	broad.mit.edu	37	chr11	73131004	73131004	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgccttcagtgccacaggaAgacgagttctgtggccaggc	14	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:73131004A>T	uc001otz.1	-	5	498	c.219T>A	c.(217-219)TCT>TCA	p.S73S	FAM168A_uc001oty.1_Silent_p.S64S|FAM168A_uc009ytp.1_Silent_p.S64S	NM_015159	NP_055974	Q92567	F168A_HUMAN	hypothetical protein LOC23201	73											0						TGCCACAGGAAGACGAGTTCT	0.517													T	73131004	A	T	73131004	2	4	269	1	0	0	0	0	0	0	0	1	5485	59	3	5		5	FAM168A	11	73131004	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	108696	73131004	61875512	522	133170											
C2CD3	26005	broad.mit.edu	37	chr11	73814511	73814511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatgaatttggtttaAgttttgtggatttttggtac	9	4	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:73814511A>C	uc001ouu.2	-	14	2472	c.2245T>G	c.(2245-2247)TTA>GTA	p.L749V		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	749						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					ATTTGGTTTAAGTTTTGTGGA	0.443													C	73814511	A	C	73814511	3	2	269	1	0	0	0	0	1	0	0	0	2154	69	3	5	3718	5	C2CD3	11	73814511	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	683507	73814511	61192005	523	133171											
NAALAD2	10003	broad.mit.edu	37	chr11	89880599	89880599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttggactagattcagccaAgttggttcattatgatgtcc	9	7	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:89880599A>C	uc001pdf.3	+	3	405	c.296A>C	c.(295-297)AAG>ACG	p.K99T	NAALAD2_uc009yvx.2_Missense_Mutation_p.K99T|NAALAD2_uc009yvy.2_Missense_Mutation_p.K99T|NAALAD2_uc001pdd.2_Missense_Mutation_p.K99T|NAALAD2_uc001pde.2_Missense_Mutation_p.K99T	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	99	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCAGCCAAGTTGGTTCAT	0.378													C	89880599	A	C	89880599	3	2	269	1	0	0	0	0	1	0	0	0	10128	72	3	5	306	5	NAALAD2	11	89880599	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	16066088	89880599	45125917	524	133172											
FAT3	120114	broad.mit.edu	37	chr11	92531144	92531144	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaatgtctgctactgcAattgtgcgcatttccgtcac	8	14	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:92531144A>G	uc001pdj.3	+	9	4982	c.4965A>G	c.(4963-4965)GCA>GCG	p.A1655A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1655	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCTACTGCAATTGTGCGCA	0.443										TCGA Ovarian(4;0.039)			G	92531144	A	G	92531144	2	3	269	1	0	0	0	0	0	0	0	1	5691	117	5	3		3	FAT3	11	92531144	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2650545	92531144	42475372	525	133173											
FAT3	120114	broad.mit.edu	37	chr11	92531514	92531514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatactcaggcagcctaAgtgaggctgccccaattaat	8	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:92531514A>C	uc001pdj.3	+	9	5352	c.5335A>C	c.(5335-5337)AGT>CGT	p.S1779R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1779	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCAGCCTAAGTGAGGCTGC	0.453										TCGA Ovarian(4;0.039)			C	92531514	A	C	92531514	3	2	269	1	0	0	0	0	1	0	0	0	5691	72	3	5	5369	5	FAT3	11	92531514	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	370	92531514	42475002	526	133174											
DYNC2H1	79659	broad.mit.edu	37	chr11	103049955	103049955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctagaatgggaatgatcTttcttaggtaagccatagat	9	5	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:103049955T>C	uc001pho.2	+	39	6484	c.6340T>C	c.(6340-6342)TTT>CTT	p.F2114L	DYNC2H1_uc001phn.1_Missense_Mutation_p.F2114L|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2114	AAA 2 (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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGAATGATCTTTCTTAGGTA	0.308													C	103049955	T	C	103049955	3	2	269	1	0	0	0	0	1	0	0	0	4846	1609	56	3	6494	3	DYNC2H1	11	103049955	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	10518441	103049955	31956561	527	133175											
DYNC2H1	79659	broad.mit.edu	37	chr11	103070185	103070185	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatatgaactgaagcagTtcaaaaatgatctcaaacat	8	6	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:103070185T>G	uc001pho.2	+	49	8212	c.8068T>G	c.(8068-8070)TTC>GTC	p.F2690V	DYNC2H1_uc001phn.1_Missense_Mutation_p.F2690V|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2690	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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTGAAGCAGTTCAAAAATGA	0.388													G	103070185	T	G	103070185	3	3	269	1	0	0	0	0	1	0	0	0	4846	1725	60	5	8262	5	DYNC2H1	11	103070185	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	20230	103070185	31936331	528	133176											
HTR3A	3359	broad.mit.edu	37	chr11	113857523	113857523	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctgcatgtgtctcTtgcctctgccctgggctgca	9	17	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:113857523T>A	uc010rxb.1	+	7	1240	c.1007T>A	c.(1006-1008)CTT>CAT	p.L336H	HTR3A_uc010rxa.1_Intron|HTR3A_uc009yyx.2_Intron|HTR3A_uc010rxc.1_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		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)	CATGTGTCTCTTGCCTCTGCC	0.597													A	113857523	T	A	113857523	3	1	269	1	0	0	0	0	1	0	0	0	7444	1609	56	5	1059	5	HTR3A	11	113857523	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	10787338	113857523	21148993	529	133177											
PCSK7	9159	broad.mit.edu	37	chr11	117097908	117097908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggccacgcccacggcaCagaagctgttgttgggcaca	13	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:117097908C>T	uc001pqr.2	-	5	935	c.734G>A	c.(733-735)TGT>TAT	p.C245Y		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	245	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	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)		GCCCACGGCACAGAAGCTGTT	0.607			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	117097908	C	T	117097908	3	4	269	1	0	0	0	0	1	0	0	0	11605	478	17	4	1675	4	PCSK7	11	117097908	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3240385	117097908	17908608	530	133178											
BACE1	23621	broad.mit.edu	37	chr11	117162426	117162426	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccccatccttagtccactcAcggaggaggctgccttgatg	10	15	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:117162426A>T	uc001pqz.2	-	6	1403	c.942_splice	c.e6+1	p.S314_splice	BACE1_uc001pqw.2_Splice_Site_p.S289_splice|BACE1_uc001pqx.2_Splice_Site_p.S245_splice|BACE1_uc001pqy.2_Splice_Site_p.S270_splice|BACE1_uc010rxg.1_Splice_Site_p.S189_splice|BACE1_uc010rxh.1_Splice_Site_p.S214_splice|BACE1_uc009yzo.1_Intron|uc010rxi.1_RNA	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A						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			ovary(1)	1	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)		TAGTCCACTCACGGAGGAGGC	0.502													T	117162426	A	T	117162426	5	4	269	1	0	0	0	0	0	0	1	0	1281	173	6	5	577	5	BACE1	11	117162426	Splice_Site	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	64518	117162426	17844090	531	133179											
MLL	4297	broad.mit.edu	37	chr11	118343628	118343628	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaccacacaccttggcTtatgcctccaacaatcccct	4	18	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:118343628T>G	uc001pta.2	+	3	1777	c.1754T>G	c.(1753-1755)CTT>CGT	p.L585R	MLL_uc001ptb.2_Missense_Mutation_p.L585R|MLL_uc001psz.1_Missense_Mutation_p.L618R|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	585					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACACCTTGGCTTATGCCTCCA	0.552			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								G	118343628	T	G	118343628	3	3	269	1	0	0	0	0	1	0	0	0	9620	1609	56	5	1764	5	MLL	11	118343628	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1181202	118343628	16662888	532	133180											
GRIK4	2900	broad.mit.edu	37	chr11	120673451	120673451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaggggagcggctctcCatcaccctggccaagaaccg	13	14	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:120673451C>T	uc001pxn.2	+	4	419	c.132C>T	c.(130-132)TCC>TCT	p.S44S	GRIK4_uc009zav.1_Silent_p.S44S|GRIK4_uc009zaw.1_Silent_p.S44S|GRIK4_uc009zax.1_Silent_p.S44S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	44	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	AGCGGCTCTCCATCACCCTGG	0.582											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120673451	C	T	120673451	2	4	269	1	0	0	0	0	0	0	0	1	6776	581	21	4		4	GRIK4	11	120673451	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2329823	120673451	14333065	533	133181											
GRIK4	2900	broad.mit.edu	37	chr11	120707510	120707510	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccttgcaggcagccgaacTtgggatggtgtcagcctatt	13	11	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:120707510T>G	uc001pxn.2	+	8	988	c.701T>G	c.(700-702)CTT>CGT	p.L234R	GRIK4_uc009zav.1_Missense_Mutation_p.L234R|GRIK4_uc009zaw.1_Missense_Mutation_p.L234R|GRIK4_uc009zax.1_Missense_Mutation_p.L234R	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	234	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	GCAGCCGAACTTGGGATGGTG	0.448													G	120707510	T	G	120707510	3	3	269	1	0	0	0	0	1	0	0	0	6776	1609	56	5	723	5	GRIK4	11	120707510	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	34059	120707510	14299006	534	133182											
UBASH3B	84959	broad.mit.edu	37	chr11	122653921	122653921	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcgggatatccgatttgcTaaccatgaggtaatgtctca	9	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:122653921T>A	uc001pyi.3	+	5	1122	c.762T>A	c.(760-762)GCT>GCA	p.A254A		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	254	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCCGATTTGCTAACCATGAGG	0.527													A	122653921	T	A	122653921	2	1	269	1	0	0	0	0	0	0	0	1	16837	1509	53	5		5	UBASH3B	11	122653921	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1946411	122653921	12352595	535	133183											
OR6X1	390260	broad.mit.edu	37	chr11	123624601	123624601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatcatattaaagagaAgtgaccctgggatcacaagg	10	6	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:123624601A>C	uc010rzy.1	-	1	626	c.626T>G	c.(625-627)CTT>CGT	p.L209R		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		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)		ATTAAAGAGAAGTGACCCTGG	0.478													C	123624601	A	C	123624601	3	2	269	1	0	0	0	0	1	0	0	0	11212	72	3	5	314	5	OR6X1	11	123624601	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	970680	123624601	11381915	536	133184											
OR8B12	219858	broad.mit.edu	37	chr11	124413447	124413447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccccaccacggtgaccGtgtagaaacccagaaacagg	11	13	0	3	rs146463957	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:124413447G>A	uc010sam.1	-	1	104	c.104C>T	c.(103-105)ACG>ATG	p.T35M		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		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)		CACGGTGACCGTGTAGAAACC	0.507													A	124413447	G	A	124413447	3	1	269	1	0	0	0	0	1	0	0	0	11226	1145	40	1	830	1	OR8B12	11	124413447	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	788846	124413447	10593069	537	133185											
HEPACAM	220296	broad.mit.edu	37	chr11	124793853	124793853	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaggtgaaggcctcgcTgagctccagcacagtggttg	14	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:124793853T>G	uc001qbk.2	-	3	887	c.481A>C	c.(481-483)AGC>CGC	p.S161R	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.S161R	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	161	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	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)		AAGGCCTCGCTGAGCTCCAGC	0.562													G	124793853	T	G	124793853	3	3	269	1	0	0	0	0	1	0	0	0	7052	1580	55	5	789	5	HEPACAM	11	124793853	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	380406	124793853	10212663	538	133186											
HEPACAM	220296	broad.mit.edu	37	chr11	124794827	124794827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcaccacggtcactggcTtgtcccgcttcagctgccac	9	17	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:124794827T>G	uc001qbk.2	-	2	630	c.224A>C	c.(223-225)AAG>ACG	p.K75T	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.K75T	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	75	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	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)		GGTCACTGGCTTGTCCCGCTT	0.582													G	124794827	T	G	124794827	3	3	269	1	0	0	0	0	1	0	0	0	7052	1609	56	5	1050	5	HEPACAM	11	124794827	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	974	124794827	10211689	539	133187											
FAM118B	79607	broad.mit.edu	37	chr11	126120444	126120444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttcaaggactgtttatAtgaagtatttgatgacttgg	9	3	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:126120444A>G	uc001qdf.2	+	5	566	c.383A>G	c.(382-384)TAT>TGT	p.Y128C	FAM118B_uc009zca.2_Missense_Mutation_p.Y132C|FAM118B_uc001qdg.2_Missense_Mutation_p.Y128C	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	128											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GACTGTTTATATGAAGTATTT	0.393													G	126120444	A	G	126120444	3	3	269	1	0	0	0	0	1	0	0	0	5412	449	16	3	393	3	FAM118B	11	126120444	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1325617	126120444	8886072	540	133188											
SPATA19	219938	broad.mit.edu	37	chr11	133715312	133715312	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacacctttccgagcaagAatatacacaatccatgtcgt	5	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr11:133715312A>C	uc001qgv.1	-	1	81	c.30T>G	c.(28-30)ATT>ATG	p.I10M		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	10					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	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)		TCCGAGCAAGAATATACACAA	0.448													C	133715312	A	C	133715312	3	2	269	1	0	0	0	0	1	0	0	0	15003	242	9	5	497	5	SPATA19	11	133715312	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7594868	133715312	1291204	541	133189											
CCDC77	84318	broad.mit.edu	37	chr12	521068	521068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggaatattatcaaaagaAgatggctgagtgtgaggcag	13	5	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:521068A>C	uc001qig.2	+	4	374	c.194A>C	c.(193-195)AAG>ACG	p.K65T	CCDC77_uc009zdk.2_Missense_Mutation_p.K33T|CCDC77_uc010sdp.1_Missense_Mutation_p.K33T|CCDC77_uc010sdq.1_Missense_Mutation_p.K33T	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	65	Potential.					centrosome				ovary(1)	1	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)			TATCAAAAGAAGATGGCTGAG	0.473													C	521068	A	C	521068	3	2	269	1	0	0	0	0	1	0	0	0	2851	72	3	5	200	5	CCDC77	12	521068	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08		521068	133330827	542	133190											
FBXL14	144699	broad.mit.edu	37	chr12	1675940	1675940	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggagcttccccgagttcTcacagtgaataatggagaaa	10	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:1675940T>G	uc001qjh.2	-	2	1330	c.1231A>C	c.(1231-1233)AGA>CGA	p.R411R		NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	411						cytoplasm				ovary(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			ccccgagttctcacagtgaat	0													G	1675940	T	G	1675940	2	3	269	1	0	0	0	0	0	0	0	1	5710	1559	54	5		5	FBXL14	12	1675940	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1154872	1675940	132175955	543	133191											
VWF	7450	broad.mit.edu	37	chr12	6105331	6105331	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaacagctgccagtcagcTtgaaattctgcccatcaaag	8	11	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:6105331T>G	uc001qnn.1	-	35	6150	c.5900A>C	c.(5899-5901)AAG>ACG	p.K1967T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1967	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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCCAGTCAGCTTGAAATTCTG	0.537													G	6105331	T	G	6105331	3	3	269	1	0	0	0	0	1	0	0	0	17243	1609	56	5	2613	5	VWF	12	6105331	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4429391	6105331	127746564	544	133192											
VWF	7450	broad.mit.edu	37	chr12	6128304	6128304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggcctgcttctcgatgAggcggatctgcttgaggttg	16	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:6128304A>C	uc001qnn.1	-	28	4530	c.4280T>G	c.(4279-4281)CTC>CGC	p.L1427R	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1427	VWFA 1; binding site for platelet glycoprotein Ib.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTTCTCGATGAGGCGGATCTG	0.572													C	6128304	A	C	6128304	3	2	269	1	0	0	0	0	1	0	0	0	17243	304	11	5	4261	5	VWF	12	6128304	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	22973	6128304	127723591	545	133193											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354967	22354967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaccacagaaggttcTgaaacctattgaagaaaaaa	8	7	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:22354967T>C	uc001rfo.3	-	5	1072	c.590A>G	c.(589-591)CAG>CGG	p.Q197R	ST8SIA1_uc009zix.2_Missense_Mutation_p.Q54R	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	197	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						CAGAAGGTTCTGAAACCTATT	0.383													C	22354967	T	C	22354967	3	2	269	1	0	0	0	0	1	0	0	0	15230	1580	55	3	484	3	ST8SIA1	12	22354967	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	16226663	22354967	111496928	546	133194											
IFLTD1	160492	broad.mit.edu	37	chr12	25702398	25702398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccactggaatttgaagatgAcaatggcagtgttgtggcaa	12	6	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:25702398A>G	uc001rgs.2	-	2	259	c.109T>C	c.(109-111)TCA>CCA	p.S37P	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc010sji.1_Missense_Mutation_p.S58P|IFLTD1_uc010sjj.1_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S58P	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	37						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTGAAGATGACAATGGCAGT	0.368													G	25702398	A	G	25702398	3	3	269	1	0	0	0	0	1	0	0	0	7530	275	10	3	1085	3	IFLTD1	12	25702398	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3347431	25702398	108149497	547	133195											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858715	42858715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagactcagatcatccaatTttcgagaaagggtgtcatca	9	8	4	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:42858715T>C	uc010skv.1	-	7	1408	c.1121A>G	c.(1120-1122)AAA>AGA	p.K374R	PRICKLE1_uc001rnl.2_Missense_Mutation_p.K374R|PRICKLE1_uc010skw.1_Missense_Mutation_p.K374R|PRICKLE1_uc001rnm.2_Missense_Mutation_p.K374R	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	374					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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ATCATCCAATTTTCGAGAAAG	0.473													C	42858715	T	C	42858715	3	2	269	1	0	0	0	0	1	0	0	0	12486	1841	64	3	1382	3	PRICKLE1	12	42858715	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	17156317	42858715	90993180	548	133196											
TUBA1A	7846	broad.mit.edu	37	chr12	49579658	49579658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagaactccagcttggacTtcttgccataatcaactgag	8	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:49579658T>G	uc009zlf.2	-	4	763	c.491A>C	c.(490-492)AAG>ACG	p.K164T	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.K164T|TUBA1A_uc001rtq.2_Missense_Mutation_p.K11T|TUBA1A_uc001rtr.2_Missense_Mutation_p.K11T|TUBA1A_uc009zlg.2_Missense_Mutation_p.K11T	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	164					'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				0						CAGCTTGGACTTCTTGCCATA	0.552													G	49579658	T	G	49579658	3	3	269	1	0	0	0	0	1	0	0	0	16740	1609	56	5	868	5	TUBA1A	12	49579658	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6720943	49579658	84272237	549	133197											
FAM186B	84070	broad.mit.edu	37	chr12	49993476	49993476	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggggatatctgcaaAgagggccaggtcagccttcg	14	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:49993476A>G	uc001ruo.2	-	4	2120	c.1947T>C	c.(1945-1947)TCT>TCC	p.S649S	FAM186B_uc010smk.1_Silent_p.S559S	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	649						protein complex				ovary(1)	1						ATATCTGCAAAGAGGGCCAGG	0.532													G	49993476	A	G	49993476	2	3	269	1	0	0	0	0	0	0	0	1	5512	59	3	3		3	FAM186B	12	49993476	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	413818	49993476	83858419	550	133198											
DIP2B	57609	broad.mit.edu	37	chr12	51138610	51138610	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaccccatctacgtggcTtataacatgtaaccagcctt	6	12	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:51138610T>G	uc001rwv.2	+	38	4875	c.4719T>G	c.(4717-4719)GCT>GCG	p.A1573A	DIP2B_uc009zlt.2_Silent_p.A1003A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1573						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						TCTACGTGGCTTATAACATGT	0.512													G	51138610	T	G	51138610	2	3	269	1	0	0	0	0	0	0	0	1	4528	1596	56	5		5	DIP2B	12	51138610	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1145134	51138610	82713285	551	133199											
KRT84	3890	broad.mit.edu	37	chr12	52777521	52777521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgctcctgatacatttcTgctcttggaggaagctccac	9	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:52777521T>C	uc001sah.1	-	2	656	c.608A>G	c.(607-609)CAG>CGG	p.Q203R		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	203	Rod.|Linker 1.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GATACATTTCTGCTCTTGGAG	0.527													C	52777521	T	C	52777521	3	2	269	1	0	0	0	0	1	0	0	0	8498	1580	55	3	1226	3	KRT84	12	52777521	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1638911	52777521	81074374	552	133200											
KRT1	3848	broad.mit.edu	37	chr12	53068985	53068985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggcatctctttatctggTtactccggaataagtggtag	12	7	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:53068985T>G	uc001sau.1	-	9	1986	c.1927A>C	c.(1927-1929)ACC>CCC	p.T643P	KRT1_uc001sav.1_Missense_Mutation_p.T636P	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	643	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			ovary(1)|skin(1)	2						CTTTATCTGGTTACTCCGGAA	0.512													G	53068985	T	G	53068985	3	3	269	1	0	0	0	0	1	0	0	0	8447	1725	60	5	11	5	KRT1	12	53068985	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	291464	53068985	80782910	553	133201											
KRT1	3848	broad.mit.edu	37	chr12	53071158	53071158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggctatatcctcgtacTgggccttgacctcagcaatg	10	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:53071158T>C	uc001sau.1	-	5	1129	c.1070A>G	c.(1069-1071)CAG>CGG	p.Q357R	KRT1_uc001sav.1_Missense_Mutation_p.Q357R	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	357	Rod.|Coil 2.				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			ovary(1)|skin(1)	2						ATCCTCGTACTGGGCCTTGAC	0.507													C	53071158	T	C	53071158	3	2	269	1	0	0	0	0	1	0	0	0	8447	1580	55	3	884	3	KRT1	12	53071158	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2173	53071158	80780737	554	133202											
KRT4	3851	broad.mit.edu	37	chr12	53203219	53203219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcattaagactgtccaccTtggcctccaactccaccttg	6	16	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:53203219T>G	uc001saz.2	-	4	1275	c.1004A>C	c.(1003-1005)AAG>ACG	p.K335T		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	261						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						ACTGTCCACCTTGGCCTCCAA	0.552													G	53203219	T	G	53203219	3	3	269	1	0	0	0	0	1	0	0	0	8477	1609	56	5	804	5	KRT4	12	53203219	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	132061	53203219	80648676	555	133203											
RDH16	8608	broad.mit.edu	37	chr12	57346625	57346625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcacagtctgcaacaaacTtctcgccataggcctccttg	6	15	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:57346625T>G	uc001smi.3	-	3	894	c.722A>C	c.(721-723)AAG>ACG	p.K241T	RDH16_uc009zpa.2_Missense_Mutation_p.K96T	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	241	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						TGCAACAAACTTCTCGCCATA	0.498													G	57346625	T	G	57346625	3	3	269	1	0	0	0	0	1	0	0	0	13194	1609	56	5	239	5	RDH16	12	57346625	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4143406	57346625	76505270	556	133204											
SLC26A10	65012	broad.mit.edu	37	chr12	58018700	58018700	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctatccaacaccactgtacTttgggacccgtgggcagttt	10	12	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:58018700T>G	uc001spe.2	+	10	1590	c.1279T>G	c.(1279-1281)TTT>GTT	p.F427V	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	427	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					ACCACTGTACTTTGGGACCCG	0.557													G	58018700	T	G	58018700	3	3	269	1	0	0	0	0	1	0	0	0	14515	1609	56	5	1317	5	SLC26A10	12	58018700	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	672075	58018700	75833195	557	133205											
FAM19A2	338811	broad.mit.edu	37	chr12	62147518	62147518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccaccatttctgttccActattgaagctataagagag	8	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:62147518A>G	uc001sqw.2	-	4	1782	c.269T>C	c.(268-270)GTG>GCG	p.V90A	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.V90A|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	90						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTTCTGTTCCACTATTGAAGC	0.383													G	62147518	A	G	62147518	3	3	269	1	0	0	0	0	1	0	0	0	5532	159	6	3	134	3	FAM19A2	12	62147518	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4128818	62147518	71704377	558	133206											
HELB	92797	broad.mit.edu	37	chr12	66718889	66718889	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaacatgcatgggcaagaActattcacacttttcaggta	7	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:66718889A>C	uc001sti.2	+	11	2681	c.2653A>C	c.(2653-2655)ACT>CCT	p.T885P	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	885					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATGGGCAAGAACTATTCACAC	0.343													C	66718889	A	C	66718889	3	2	269	1	0	0	0	0	1	0	0	0	7045	43	2	5	2695	5	HELB	12	66718889	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4571371	66718889	67133006	559	133207											
BEST3	144453	broad.mit.edu	37	chr12	70049460	70049460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtctgcctcctgtagcTtcttcttctggggctggagg	12	11	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:70049460T>C	uc001svg.2	-	10	1461	c.1234A>G	c.(1234-1236)AGC>GGC	p.S412G	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.S199G|BEST3_uc010stm.1_Missense_Mutation_p.S306G	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	412	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	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)			CTCCTGTAGCTTCTTCTTCTG	0.562													C	70049460	T	C	70049460	3	2	269	1	0	0	0	0	1	0	0	0	1406	1609	56	3	776	3	BEST3	12	70049460	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3330571	70049460	63802435	560	133208											
ANKS1B	56899	broad.mit.edu	37	chr12	99837566	99837566	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactagttcctggagtagtaActgctacctcagaggcatta	9	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:99837566A>C	uc001tge.1	-	11	1877	c.1460T>G	c.(1459-1461)GTT>GGT	p.V487G	ANKS1B_uc001tgf.1_Missense_Mutation_p.V67G|ANKS1B_uc009ztt.1_Missense_Mutation_p.V453G	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	487						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		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)		TGGAGTAGTAACTGCTACCTC	0.378													C	99837566	A	C	99837566	3	2	269	1	0	0	0	0	1	0	0	0	689	43	2	5	2638	5	ANKS1B	12	99837566	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	29788106	99837566	34014329	561	133209											
STAB2	55576	broad.mit.edu	37	chr12	104100724	104100724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcggcacagcctgcgAgacctgcaccgagggcaagt	13	14	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:104100724A>G	uc001tjw.2	+	38	4337	c.4151A>G	c.(4150-4152)GAG>GGG	p.E1384G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1384	Extracellular (Potential).|Laminin EGF-like 1.				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			ovary(9)|skin(5)	14						ACAGCCTGCGAGACCTGCACC	0.557													G	104100724	A	G	104100724	3	3	269	1	0	0	0	0	1	0	0	0	15237	304	11	3	4301	3	STAB2	12	104100724	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4263158	104100724	29751171	562	133210											
CUX2	23316	broad.mit.edu	37	chr12	111779780	111779780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggaaccctacccctcGcagcagaccatcgagctcct	8	18	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:111779780G>A	uc001tsa.1	+	21	3735	c.3582G>A	c.(3580-3582)TCG>TCA	p.S1194S		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1194	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCTACCCCTCGCAGCAGACCA	0.602													A	111779780	G	A	111779780	2	1	269	1	0	0	0	0	0	0	0	1	4065	1074	38	1		1	CUX2	12	111779780	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	7679056	111779780	22072115	563	133211											
NOS1	4842	broad.mit.edu	37	chr12	117705928	117705928	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtcttcctcatgtctaAgttcatcttcttggccactt	7	12	6	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:117705928A>C	uc001twm.1	-	11	2547	c.1861T>G	c.(1861-1863)TTA>GTA	p.L621V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	621					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			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCATGTCTAAGTTCATCTTC	0.527													C	117705928	A	C	117705928	3	2	269	1	0	0	0	0	1	0	0	0	10541	69	3	5	2519	5	NOS1	12	117705928	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5926148	117705928	16145967	564	133212											
NOS1	4842	broad.mit.edu	37	chr12	117723967	117723967	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcattccgccaggcgtgcTtggccccatagatgagctct	12	13	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:117723967T>G	uc001twm.1	-	6	1918	c.1232A>C	c.(1231-1233)AAG>ACG	p.K411T		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	411					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			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCAGGCGTGCTTGGCCCCATA	0.552													G	117723967	T	G	117723967	3	3	269	1	0	0	0	0	1	0	0	0	10541	1609	56	5	3168	5	NOS1	12	117723967	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	18039	117723967	16127928	565	133213											
CCDC60	160777	broad.mit.edu	37	chr12	119960794	119960794	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatccaaccagtccagaAgaagtctaaaaagtaagcca	6	12	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:119960794A>C	uc001txe.2	+	10	1556	c.1091A>C	c.(1090-1092)AAG>ACG	p.K364T	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	364										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAGTCCAGAAGAAGTCTAAA	0.473													C	119960794	A	C	119960794	3	2	269	1	0	0	0	0	1	0	0	0	2831	72	3	5	1129	5	CCDC60	12	119960794	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2236827	119960794	13891101	566	133214											
GCN1L1	10985	broad.mit.edu	37	chr12	120597772	120597772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgggtcaggccggacgggTtcttggccaggatgatgtcc	16	10	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:120597772T>G	uc001txo.2	-	24	2619	c.2606A>C	c.(2605-2607)AAC>ACC	p.N869T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	869					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCGGACGGGTTCTTGGCCAG	0.597													G	120597772	T	G	120597772	3	3	269	1	0	0	0	0	1	0	0	0	6299	1725	60	5	5549	5	GCN1L1	12	120597772	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	636978	120597772	13254123	567	133215											
SFRS9	8683	broad.mit.edu	37	chr12	120899957	120899957	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggataaactcggatgtaggaAgtttcaccctgaaatgcaaa	10	7	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:120899957A>C	uc001tyi.2	-	4	677	c.531T>G	c.(529-531)ACT>ACG	p.T177T		NM_003769	NP_003760	Q13242	SRSF9_HUMAN	splicing factor, arginine/serine-rich 9	177	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGATGTAGGAAGTTTCACCCT	0.423													C	120899957	A	C	120899957	2	2	269	1	0	0	0	0	0	0	0	1	14184	59	3	5		5	SFRS9	12	120899957	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	302185	120899957	12951938	568	133216											
CCDC62	84660	broad.mit.edu	37	chr12	123290807	123290807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactcacctacgagtttgTtaatctacaaagatgcacca	6	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:123290807T>G	uc001udc.2	+	10	1961	c.1816T>G	c.(1816-1818)TTA>GTA	p.L606V	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.L606V|CCDC62_uc001ude.2_Missense_Mutation_p.L367V	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	606						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	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)		TACGAGTTTGTTAATCTACAA	0.428													G	123290807	T	G	123290807	3	3	269	1	0	0	0	0	1	0	0	0	2833	1722	60	5	1854	5	CCDC62	12	123290807	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2390850	123290807	10561088	569	133217											
NCOR2	9612	broad.mit.edu	37	chr12	124885181	124885181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggccacagcctccttcTcgtcgttgtcctcccctgag	10	16	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:124885181T>C	uc010tba.1	-	15	1796	c.1679A>G	c.(1678-1680)GAG>GGG	p.E560G	NCOR2_uc010tay.1_Missense_Mutation_p.E560G|NCOR2_uc010taz.1_Missense_Mutation_p.E560G|NCOR2_uc010tbb.1_Missense_Mutation_p.E560G|NCOR2_uc010tbc.1_Missense_Mutation_p.E559G|NCOR2_uc001ugj.1_Missense_Mutation_p.E560G	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	560	Potential.				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			skin(3)|ovary(1)	4	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)		AGCCTCCTTCTCGTCGTTGTC	0.592													C	124885181	T	C	124885181	3	2	269	1	0	0	0	0	1	0	0	0	10236	1551	54	3	6021	3	NCOR2	12	124885181	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1594374	124885181	8966714	570	133218											
GLT1D1	144423	broad.mit.edu	37	chr12	129467525	129467525	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgatcctgcattagaaaagGaaatcgtagtgaacggaagg	13	5	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr12:129467525G>T	uc010tbh.1	+	13	955	c.946G>T	c.(946-948)GAA>TAA	p.E316*	GLT1D1_uc001uhx.1_Nonsense_Mutation_p.E231*|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	311					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	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)		ATTAGAAAAGGAAATCGTAGT	0.438													T	129467525	G	T	129467525	4	4	269	1	0	0	0	0	0	1	0	0	6465	1175	41	5	721	5	GLT1D1	12	129467525	Nonsense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	4582344	129467525	4384370	571	133219											
RNF17	56163	broad.mit.edu	37	chr13	25352459	25352459	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattgttctcaggactttaAgaagactgctgatcagctaa	9	7	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:25352459A>C	uc001upr.2	+	4	385	c.344A>C	c.(343-345)AAG>ACG	p.K115T	RNF17_uc010tdd.1_5'UTR|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K115T|RNF17_uc001ups.2_Missense_Mutation_p.K54T|RNF17_uc001upq.1_Missense_Mutation_p.K115T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	115					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		CAGGACTTTAAGAAGACTGCT	0.269													C	25352459	A	C	25352459	3	2	269	1	0	0	0	0	1	0	0	0	13461	72	3	5	358	5	RNF17	13	25352459	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08		25352459	89817419	572	133220											
RXFP2	122042	broad.mit.edu	37	chr13	32352709	32352709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgcccaaatgcctcaActcaactgggtgtgagtatt	10	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:32352709A>C	uc001utt.2	+	9	845	c.774A>C	c.(772-774)CAA>CAC	p.Q258H	RXFP2_uc010aba.2_Missense_Mutation_p.Q241H	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	258	Extracellular (Potential).|LRR 6.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAATGCCTCAACTCAACTGGG	0.328													C	32352709	A	C	32352709	3	2	269	1	0	0	0	0	1	0	0	0	13760	40	2	5	808	5	RXFP2	13	32352709	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7000250	32352709	82817169	573	133221											
EBPL	84650	broad.mit.edu	37	chr13	50235114	50235114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaagttcactgaaacTtcttcactgaactggtttct	6	8	4	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:50235114T>A	uc001vdg.2	-	4	674	c.611A>T	c.(610-612)AAG>ATG	p.K204M	EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	emopamil binding related protein, delta8-delta7	204					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity				0		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TCACTGAAACTTCTTCACTGA	0.378													A	50235114	T	A	50235114	3	1	269	1	0	0	0	0	1	0	0	0	4887	1609	56	5	13	5	EBPL	13	50235114	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	17882405	50235114	64934764	574	133222											
PCDH17	27253	broad.mit.edu	37	chr13	58206928	58206928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacgcagacagcgggcTcctctacaccaagcagcgca	12	15	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:58206928T>C	uc001vhq.1	+	1	1140	c.248T>C	c.(247-249)CTC>CCC	p.L83P	PCDH17_uc010aec.1_Missense_Mutation_p.L83P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	83	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACAGCGGGCTCCTCTACACC	0.667													C	58206928	T	C	58206928	3	2	269	1	0	0	0	0	1	0	0	0	11512	1551	54	3	250	3	PCDH17	13	58206928	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7971814	58206928	56962950	575	133223											
COL4A1	1282	broad.mit.edu	37	chr13	110845208	110845208	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggggtccctgtggcccgggAggcccccgatatccgtctat	15	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:110845208A>T	uc001vqw.3	-	23	1556	c.1434T>A	c.(1432-1434)CCT>CCA	p.P478P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	478	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			GTGGCCCGGGAGGCCCCCGAT	0.488													T	110845208	A	T	110845208	2	4	269	1	0	0	0	0	0	0	0	1	3689	291	11	5		5	COL4A1	13	110845208	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	52638280	110845208	4324670	576	133224											
ING1	3621	broad.mit.edu	37	chr13	111367991	111367991	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccagccttggattggTtcttctcgctgctggggcgg	15	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:111367991T>G	uc001vri.2	+	1	633	c.201T>G	c.(199-201)GGT>GGG	p.G67G	CARS2_uc010tjm.1_5'Flank|uc001vre.2_5'Flank|ING1_uc001vrf.2_Intron|ING1_uc001vrg.2_Intron|ING1_uc001vrh.2_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	67					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	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)			CTTGGATTGGTTCTTCTCGCT	0.622													G	111367991	T	G	111367991	2	3	269	1	0	0	0	0	0	0	0	1	7735	1712	60	5		5	ING1	13	111367991	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	522783	111367991	3801887	577	133225											
SOX1	6656	broad.mit.edu	37	chr13	112722352	112722352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgcgccgcaagaccaAgacgctgctcaagaaggaca	12	15	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:112722352A>C	uc001vsb.1	+	1	440	c.380A>C	c.(379-381)AAG>ACG	p.K127T		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	127					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	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)		CGCAAGACCAAGACGCTGCTC	0.507													C	112722352	A	C	112722352	3	2	269	1	0	0	0	0	1	0	0	0	14940	72	3	5	382	5	SOX1	13	112722352	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1354361	112722352	2447526	578	133226											
C13orf28	122258	broad.mit.edu	37	chr13	113030765	113030765	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgttggcaagaaacTgagctccggccgagaaccgt	13	11	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:113030765T>G	uc001vsd.1	+	1	97	c.66T>G	c.(64-66)ACT>ACG	p.T22T		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	hypothetical protein LOC122258 precursor	22						extracellular region					0	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)					GGCAAGAAACTGAGCTCCGGC	0.597													G	113030765	T	G	113030765	2	3	269	1	0	0	0	0	0	0	0	1	1724	1567	55	5		5	C13orf28	13	113030765	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	308413	113030765	2139113	579	133227											
ZNF828	283489	broad.mit.edu	37	chr13	115091308	115091308	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgtggaatccattgAttttagcaaagagaacaaaa	10	4	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr13:115091308A>T	uc010ahb.2	+	3	2320	c.1991A>T	c.(1990-1992)GAT>GTT	p.D664V	ZNF828_uc001vuv.2_Missense_Mutation_p.D664V|ZNF828_uc010tko.1_Missense_Mutation_p.D664V	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	664	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		GAATCCATTGATTTTAGCAAA	0.388													T	115091308	A	T	115091308	3	4	269	1	0	0	0	0	1	0	0	0	18178	333	12	5	1993	5	ZNF828	13	115091308	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2060543	115091308	78570	580	133228											
OR4K1	79544	broad.mit.edu	37	chr14	20404286	20404286	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggcggtgggcgttcTtcattctgtgagccacttgg	14	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20404286T>G	uc001vwj.1	+	1	461	c.461T>G	c.(460-462)CTT>CGT	p.L154R		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGGGCGTTCTTCATTCTGTG	0.468													G	20404286	T	G	20404286	3	3	269	1	0	0	0	0	1	0	0	0	11067	1609	56	5	463	5	OR4K1	14	20404286	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		20404286	86945254	581	133229											
OR4K17	390436	broad.mit.edu	37	chr14	20586502	20586502	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataccatcatcactcctatcTtgaatccaattatctatact	1	12	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20586502T>C	uc001vwo.1	+	1	937	c.937T>C	c.(937-939)TTG>CTG	p.L313L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACTCCTATCTTGAATCCAAT	0.363													C	20586502	T	C	20586502	2	2	269	1	0	0	0	0	0	0	0	1	11071	1606	56	3		3	OR4K17	14	20586502	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	182216	20586502	86763038	582	133230											
OR11G2	390439	broad.mit.edu	37	chr14	20666008	20666008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcctctacgctatccaAccattatgaccagacgtctc	7	15	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20666008A>C	uc010tlb.1	+	1	514	c.514A>C	c.(514-516)ACC>CCC	p.T172P		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	172	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACGCTATCCAACCATTATGAC	0.448													C	20666008	A	C	20666008	3	2	269	1	0	0	0	0	1	0	0	0	10925	43	2	5	516	5	OR11G2	14	20666008	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	79506	20666008	86683532	583	133231											
TEP1	7011	broad.mit.edu	37	chr14	20851710	20851710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtccactaacctatcAgccccatcgatgatcaggac	7	14	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:20851710A>G	uc001vxe.2	-	26	3844	c.3804T>C	c.(3802-3804)GCT>GCC	p.A1268A	TEP1_uc010ahk.2_Silent_p.A618A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.A1160A|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1268	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		CTAACCTATCAGCCCCATCGA	0.592													G	20851710	A	G	20851710	2	3	269	1	0	0	0	0	0	0	0	1	15756	175	7	3		3	TEP1	14	20851710	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	185702	20851710	86497830	584	133232											
MYH7	4625	broad.mit.edu	37	chr14	23886389	23886389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgttctcccgcttgaAggtctccagatgttccaggg	11	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:23886389A>C	uc001wjx.2	-	32	4598	c.4492T>G	c.(4492-4494)TTC>GTC	p.F1498V		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1498	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCCGCTTGAAGGTCTCCAGA	0.602													C	23886389	A	C	23886389	3	2	269	1	0	0	0	0	1	0	0	0	10039	72	3	5	1351	5	MYH7	14	23886389	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3034679	23886389	83463151	585	133233											
ADCY4	196883	broad.mit.edu	37	chr14	24800432	24800432	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgactccctggtgcctcTtgacatagaggctgtggaaa	11	11	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:24800432T>A	uc001wov.2	-	5	806	c.800A>T	c.(799-801)AAG>ATG	p.K267M	ADCY4_uc001wow.2_Missense_Mutation_p.K267M|ADCY4_uc010toh.1_Translation_Start_Site|ADCY4_uc001wox.2_Missense_Mutation_p.K267M|ADCY4_uc001woy.2_Missense_Mutation_p.K267M	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	267	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CTGGTGCCTCTTGACATAGAG	0.597													A	24800432	T	A	24800432	3	1	269	1	0	0	0	0	1	0	0	0	296	1609	56	5	2517	5	ADCY4	14	24800432	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	914043	24800432	82549108	586	133234											
NYNRIN	57523	broad.mit.edu	37	chr14	24885594	24885594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggagggatctgattttcTctgtgcatgacattcccttg	10	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:24885594T>C	uc001wpf.3	+	9	4957	c.4639T>C	c.(4639-4641)TCT>CCT	p.S1547P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1547					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TCTGATTTTCTCTGTGCATGA	0.567													C	24885594	T	C	24885594	3	2	269	1	0	0	0	0	1	0	0	0	10796	1551	54	3	4669	3	NYNRIN	14	24885594	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	85162	24885594	82463946	587	133235											
TRMT5	57570	broad.mit.edu	37	chr14	61442562	61442562	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgactggtccttggaggaAgtctttcccatccaagttga	10	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:61442562A>C	uc001xff.3	-	4	1166	c.1075T>G	c.(1075-1077)TTC>GTC	p.F359V		NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	359						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CCTTGGAGGAAGTCTTTCCCA	0.413													C	61442562	A	C	61442562	3	2	269	1	0	0	0	0	1	0	0	0	16564	72	3	5	462	5	TRMT5	14	61442562	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	36556968	61442562	45906978	588	133236											
ZFYVE26	23503	broad.mit.edu	37	chr14	68256223	68256223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctccactagagccgtgcTtatccaaaagtcctcctgga	10	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:68256223T>G	uc001xka.2	-	16	2987	c.2848A>C	c.(2848-2850)AGC>CGC	p.S950R	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.S950R	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	950					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAGCCGTGCTTATCCAAAAG	0.562													G	68256223	T	G	68256223	3	3	269	1	0	0	0	0	1	0	0	0	17665	1609	56	5	4879	5	ZFYVE26	14	68256223	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6813661	68256223	39093317	589	133237											
LTBP2	4053	broad.mit.edu	37	chr14	74988674	74988674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagggtagcagaagcaggAgtaggaccccacgcggttga	16	10	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:74988674A>G	uc001xqa.2	-	17	3115	c.2728T>C	c.(2728-2730)TCC>CCC	p.S910P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	910	EGF-like 5; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGAAGCAGGAGTAGGACCCC	0.627													G	74988674	A	G	74988674	3	3	269	1	0	0	0	0	1	0	0	0	9074	304	11	3	2817	3	LTBP2	14	74988674	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	6732451	74988674	32360866	590	133238											
TTC8	123016	broad.mit.edu	37	chr14	89305909	89305909	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaatgctatagctcaAgttccacgtaagtattgggt	10	6	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:89305909A>C	uc010ath.2	+	2	362	c.228A>C	c.(226-228)CAA>CAC	p.Q76H	TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.Q76H|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.Q86H|TTC8_uc001xxj.2_Missense_Mutation_p.Q76H|TTC8_uc001xxk.2_Missense_Mutation_p.Q76H	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	86					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						CTATAGCTCAAGTTCCACGTA	0.328									Bardet-Biedl_syndrome				C	89305909	A	C	89305909	3	2	269	1	0	0	0	0	1	0	0	0	16711	69	3	5	268	5	TTC8	14	89305909	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	14317235	89305909	18043631	591	133239											
TDP1	55775	broad.mit.edu	37	chr14	90499478	90499478	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcaaagtgaaacagaAgttcttcgctggcagccagg	11	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:90499478A>C	uc001xxy.2	+	16	1972	c.1673A>C	c.(1672-1674)AAG>ACG	p.K558T	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.K558T|TDP1_uc010atn.2_Missense_Mutation_p.E573D|TDP1_uc001xya.2_Missense_Mutation_p.K319T|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Intron|TDP1_uc001xyd.1_Missense_Mutation_p.K173T	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	558					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			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTGAAACAGAAGTTCTTCGCT	0.448								Repair_of_DNA-protein_crosslinks					C	90499478	A	C	90499478	3	2	269	1	0	0	0	0	1	0	0	0	15725	72	3	5	1727	5	TDP1	14	90499478	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1193569	90499478	16850062	592	133240											
C14orf102	55051	broad.mit.edu	37	chr14	90764715	90764715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtcccaaaagggttcaaAgaattccacctgttcagatt	7	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:90764715A>G	uc001xyi.1	-	8	1586	c.1555T>C	c.(1555-1557)TTT>CTT	p.F519L	C14orf102_uc010atp.1_Missense_Mutation_p.F24L|C14orf102_uc001xyj.1_Missense_Mutation_p.F288L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	519							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		AAGGGTTCAAAGAATTCCACC	0.542													G	90764715	A	G	90764715	3	3	269	1	0	0	0	0	1	0	0	0	1735	72	3	3	1967	3	C14orf102	14	90764715	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	265237	90764715	16584825	593	133241											
C14orf159	80017	broad.mit.edu	37	chr14	91691049	91691049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaaatgctgggcatcTtggtgcagcacaaagtccgg	12	8	1	1	rs116271183	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:91691049T>G	uc001xzb.2	+	16	2491	c.1723T>G	c.(1723-1725)TTG>GTG	p.L575V	C14orf159_uc001xyx.2_Missense_Mutation_p.L523V|C14orf159_uc001xyw.2_Missense_Mutation_p.L580V|C14orf159_uc001xzc.2_Missense_Mutation_p.L575V|C14orf159_uc001xza.2_Missense_Mutation_p.L580V|C14orf159_uc001xyv.2_Missense_Mutation_p.L540V|C14orf159_uc001xyz.2_Missense_Mutation_p.L451V|C14orf159_uc001xze.2_Missense_Mutation_p.L575V	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	575						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCTGGGCATCTTGGTGCAGCA	0.493													G	91691049	T	G	91691049	3	3	269	1	0	0	0	0	1	0	0	0	1755	1606	56	5	1784	5	C14orf159	14	91691049	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	926334	91691049	15658491	594	133242											
PPP4R4	57718	broad.mit.edu	37	chr14	94708198	94708198	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtacattgggtttgcaacaAgaaaatggacacaatgaaaa	9	5	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:94708198A>C	uc001ycs.1	+	10	1204	c.1050A>C	c.(1048-1050)CAA>CAC	p.Q350H		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	350						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						GTTTGCAACAAGAAAATGGAC	0.343													C	94708198	A	C	94708198	3	2	269	1	0	0	0	0	1	0	0	0	12405	69	3	5	1161	5	PPP4R4	14	94708198	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3017149	94708198	12641342	595	133243											
EML1	2009	broad.mit.edu	37	chr14	100374049	100374049	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgggactggcagaaagaAgaaaaactagcagatgtgaa	13	4	0	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:100374049A>C	uc001ygs.2	+	10	1152	c.1083A>C	c.(1081-1083)GAA>GAC	p.E361D	EML1_uc010avt.1_Missense_Mutation_p.E348D|EML1_uc010tww.1_Missense_Mutation_p.E349D|EML1_uc001ygq.2_Missense_Mutation_p.E380D|EML1_uc001ygr.2_Missense_Mutation_p.E380D	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	361	WD 2.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGCAGAAAGAAGAAAAACTAG	0.473													C	100374049	A	C	100374049	3	2	269	1	0	0	0	0	1	0	0	0	5096	69	3	5	1182	5	EML1	14	100374049	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5665851	100374049	6975491	596	133244											
DYNC1H1	1778	broad.mit.edu	37	chr14	102476330	102476330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcttggccatgaccaAgcccgaccggcagttaatcg	12	14	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:102476330A>G	uc001yks.2	+	30	6292	c.6128A>G	c.(6127-6129)AAG>AGG	p.K2043R		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2043	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCCATGACCAAGCCCGACCGG	0.537													G	102476330	A	G	102476330	3	3	269	1	0	0	0	0	1	0	0	0	4841	72	3	3	6246	3	DYNC1H1	14	102476330	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2102281	102476330	4873210	597	133245											
RAGE	5891	broad.mit.edu	37	chr14	102717178	102717178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagaacacacagccggcGctccacaggtccatcttgta	9	14	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:102717178G>A	uc001ylm.2	-	7	787	c.561C>T	c.(559-561)AGC>AGT	p.S187S	RAGE_uc010txv.1_Silent_p.S157S|RAGE_uc001yln.2_Silent_p.S5S	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	187	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CACAGCCGGCGCTCCACAGGT	0.637													A	102717178	G	A	102717178	2	1	269	1	0	0	0	0	0	0	0	1	13006	1078	38	1		1	RAGE	14	102717178	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	240848	102717178	4632362	598	133246											
KIF26A	26153	broad.mit.edu	37	chr14	104641834	104641834	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacccctcgaggcagttcTggtccagacacccaccaggg	11	16	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:104641834T>C	uc001yos.3	+	12	2709	c.2709T>C	c.(2707-2709)TCT>TCC	p.S903S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	903					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GAGGCAGTTCTGGTCCAGACA	0.701													C	104641834	T	C	104641834	2	2	269	1	0	0	0	0	0	0	0	1	8294	1567	55	3		3	KIF26A	14	104641834	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1924656	104641834	2707706	599	133247											
AHNAK2	113146	broad.mit.edu	37	chr14	105415965	105415965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgacatcgggggctgtcacTtccgccttggggcctttcag	13	13	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:105415965T>G	uc010axc.1	-	7	5943	c.5823A>C	c.(5821-5823)GAA>GAC	p.E1941D	AHNAK2_uc001ypx.2_Missense_Mutation_p.E1841D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1941						nucleus				ovary(1)	1		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)			GGGCTGTCACTTCCGCCTTGG	0.607													G	105415965	T	G	105415965	3	3	269	1	0	0	0	0	1	0	0	0	415	1606	56	5	11568	5	AHNAK2	14	105415965	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	774131	105415965	1933575	600	133248											
BRF1	2972	broad.mit.edu	37	chr14	105707653	105707653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcatccagtcccgctTcatcctctgtaggagcctca	9	14	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr14:105707653T>G	uc001yqp.2	-	6	1006	c.643A>C	c.(643-645)AAG>CAG	p.K215Q	BRF1_uc010tyo.1_Missense_Mutation_p.K100Q|BRF1_uc010typ.1_Missense_Mutation_p.K100Q|BRF1_uc001yql.2_Missense_Mutation_p.K11Q|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.K188Q|BRF1_uc001yqn.2_RNA|BRF1_uc010axh.1_RNA|BRF1_uc010axj.1_Intron	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	215	2.				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			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		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)		CAGTCCCGCTTCATCCTCTGT	0.647													G	105707653	T	G	105707653	3	3	269	1	0	0	0	0	1	0	0	0	1510	1792	62	5	1442	5	BRF1	14	105707653	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	291688	105707653	1641887	601	133249											
C15orf2	23742	broad.mit.edu	37	chr15	24923394	24923394	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcccatgatttcctgAgccttcctatcatggttcct	7	14	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:24923394A>C	uc001ywo.2	+	1	2854	c.2380A>C	c.(2380-2382)AGC>CGC	p.S794R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	794					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGATTTCCTGAGCCTTCCTAT	0.532													C	24923394	A	C	24923394	3	2	269	1	0	0	0	0	1	0	0	0	1784	304	11	5	2382	5	C15orf2	15	24923394	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08		24923394	77607998	602	133250											
GABRA5	2558	broad.mit.edu	37	chr15	27114462	27114462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttttgtatttccatgAacttatccagtcactttggg	6	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:27114462A>G	uc001zbd.1	+	4	406	c.67A>G	c.(67-69)AAC>GAC	p.N23D	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	23					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			ovary(1)	1		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)	TATTTCCATGAACTTATCCAG	0.388													G	27114462	A	G	27114462	3	3	269	1	0	0	0	0	1	0	0	0	6164	246	9	3	69	3	GABRA5	15	27114462	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2191068	27114462	75416930	603	133251											
PGBD4	161779	broad.mit.edu	37	chr15	34395727	34395727	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattgtgtcttcctcgataActttaatatatctcccatgc	5	10	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:34395727A>C	uc001zho.2	+	1	1454	c.995A>C	c.(994-996)AAC>ACC	p.N332T	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	332											0		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)		TTCCTCGATAACTTTAATATA	0.398													C	34395727	A	C	34395727	3	2	269	1	0	0	0	0	1	0	0	0	11783	43	2	5	997	5	PGBD4	15	34395727	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7281265	34395727	68135665	604	133252											
THBS1	7057	broad.mit.edu	37	chr15	39885624	39885624	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagtttaatgctgtggacTtcagtggcaccttcttcatc	9	9	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:39885624T>G	uc001zkh.2	+	19	3201	c.3022T>G	c.(3022-3024)TTC>GTC	p.F1008V	THBS1_uc010bbi.2_Missense_Mutation_p.F480V	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1008	TSP C-terminal.			F -> S (in Ref. 3; BAF84328).	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			ovary(3)|central_nervous_system(3)	6		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)	TGCTGTGGACTTCAGTGGCAC	0.473													G	39885624	T	G	39885624	3	3	269	1	0	0	0	0	1	0	0	0	15850	1609	56	5	3092	5	THBS1	15	39885624	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5489897	39885624	62645768	605	133253											
LTK	4058	broad.mit.edu	37	chr15	41796355	41796356	+	Missense_Mutation	DNP	AA	AA	CT													tgggggtcttaggcactccaAagatctgttccccagcccag							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:41796355_41796356AA>CT	uc001zoa.3	-	20	2611_2612	c.2433_2434TT>AG	c.(2431-2436)TCTTTG>TCAGTG	p.L812V	LTK_uc001zob.3_Missense_Mutation_p.L751V|LTK_uc010ucx.1_Missense_Mutation_p.L682V|LTK_uc010bcg.2_Missense_Mutation_p.L510V	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	812	Cytoplasmic (Potential).				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			lung(6)|central_nervous_system(1)	7		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)		AGGCACTCCAAAGATCTGTTCC	0.589										TSP Lung(18;0.14)			CT	41796356	AA	CT	41796355	3	2	269	1	0	0	0	0	1	0	0	0	9080	11	1	5	164	5	LTK	15	41796355	Missense_Mutation	DNP	AA	TCGA-HU-A4GH-01A-11D-A24D-08	1910731	41796355	60735037	606	133254											
EHD4	30844	broad.mit.edu	37	chr15	42193147	42193147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttggccacgacccacTcctcctcgtcggcgccctcc	8	20	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:42193147T>C	uc001zot.2	-	6	1385	c.1322A>G	c.(1321-1323)GAG>GGG	p.E441G		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	441					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CACGACCCACTCCTCCTCGTC	0.632													C	42193147	T	C	42193147	3	2	269	1	0	0	0	0	1	0	0	0	4980	1551	54	3	307	3	EHD4	15	42193147	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	396792	42193147	60338245	607	133255											
PLA2G4D	283748	broad.mit.edu	37	chr15	42373220	42373220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagagatgccactgaAgtaggtcacacagtctagga	12	9	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:42373220A>G	uc001zox.2	-	12	1164	c.1069T>C	c.(1069-1071)TTC>CTC	p.F357L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	357	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		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)		ATGCCACTGAAGTAGGTCACA	0.622													G	42373220	A	G	42373220	3	3	269	1	0	0	0	0	1	0	0	0	12004	72	3	3	1423	3	PLA2G4D	15	42373220	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	180073	42373220	60158172	608	133256											
CCNDBP1	23582	broad.mit.edu	37	chr15	43484948	43484948	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctgctcttagtgtggatGatttggctctgagcatatat	10	6	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:43484948G>T	uc001zqv.2	+	9	1099	c.868G>T	c.(868-870)GAT>TAT	p.D290Y	CCNDBP1_uc001zqu.2_Missense_Mutation_p.D162Y|CCNDBP1_uc010bdc.2_Missense_Mutation_p.D290Y|CCNDBP1_uc010bdb.2_Missense_Mutation_p.D162Y|CCNDBP1_uc010udl.1_Missense_Mutation_p.D129Y|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Missense_Mutation_p.D162Y|CCNDBP1_uc010bdd.2_Missense_Mutation_p.D162Y|CCNDBP1_uc001zqy.2_Missense_Mutation_p.D162Y	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	290	Interaction with TCF3.|Interaction with RPLP0.				cell cycle	cytoplasm|nucleus	protein binding			ovary(1)|kidney(1)	2		all_cancers(109;3.31e-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;8.42e-07)		TAGTGTGGATGATTTGGCTCT	0.408													T	43484948	G	T	43484948	3	4	269	1	0	0	0	0	1	0	0	0	2919	1290	45	5	902	5	CCNDBP1	15	43484948	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1111728	43484948	59046444	609	133257											
ATP8B4	79895	broad.mit.edu	37	chr15	50152626	50152626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggtccgaggccttcggCtacttggaggccttgccttc	14	13	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:50152626C>T	uc001zxu.2	-	28	3486	c.3344G>A	c.(3343-3345)AGC>AAC	p.S1115N	ATP8B4_uc010ber.2_Missense_Mutation_p.S988N|ATP8B4_uc010ufd.1_Missense_Mutation_p.S925N|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.S118N	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1115	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGGCCTTCGGCTACTTGGAGG	0.507													T	50152626	C	T	50152626	3	4	269	1	0	0	0	0	1	0	0	0	1197	797	28	2	238	2	ATP8B4	15	50152626	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	6667678	50152626	52378766	610	133258											
TRPM7	54822	broad.mit.edu	37	chr15	50902127	50902127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttatactctaacagcaatAtggcaggtggaactaaaatg	8	6	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:50902127A>G	uc001zyt.3	-	18	2576	c.2312T>C	c.(2311-2313)ATA>ACA	p.I771T	TRPM7_uc010bew.1_Missense_Mutation_p.I771T|TRPM7_uc001zyu.2_Missense_Mutation_p.I329T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	771	Helical; (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TAACAGCAATATGGCAGGTGG	0.318													G	50902127	A	G	50902127	3	3	269	1	0	0	0	0	1	0	0	0	16588	449	16	3	3373	3	TRPM7	15	50902127	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	749501	50902127	51629265	611	133259											
DMXL2	23312	broad.mit.edu	37	chr15	51857327	51857327	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtcacagaactcaaaaAaaactgcccagttttaagcc	6	10	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:51857327A>C	uc002abf.2	-	4	547	c.322T>G	c.(322-324)TTT>GTT	p.F108V	DMXL2_uc010ufy.1_Missense_Mutation_p.F108V|DMXL2_uc010bfa.2_Missense_Mutation_p.F108V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	108	WD 1.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GAACTCAAAAAAAACTGCCCA	0.274													C	51857327	A	C	51857327	3	2	269	1	0	0	0	0	1	0	0	0	4595	14	1	5	8951	5	DMXL2	15	51857327	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	955200	51857327	50674065	612	133260											
MYO5A	4644	broad.mit.edu	37	chr15	52667649	52667649	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggttctgcgcagaaacTtagcatagctggccaaagaa	10	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:52667649T>G	uc002aby.2	-	20	2673	c.2429A>C	c.(2428-2430)AAG>ACG	p.K810T	MYO5A_uc002abx.3_Missense_Mutation_p.K810T|MYO5A_uc010uge.1_Missense_Mutation_p.K679T	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	810	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCGCAGAAACTTAGCATAGCT	0.408													G	52667649	T	G	52667649	3	3	269	1	0	0	0	0	1	0	0	0	10078	1609	56	5	3226	5	MYO5A	15	52667649	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	810322	52667649	49863743	613	133261											
UNC13C	440279	broad.mit.edu	37	chr15	54307825	54307825	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagcatatgatcaccttTcatatgaaacaccttatgaa	5	9	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:54307825T>A	uc002ack.2	+	1	2725	c.2725T>A	c.(2725-2727)TCA>ACA	p.S909T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	909					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGATCACCTTTCATATGAAAC	0.378													A	54307825	T	A	54307825	3	1	269	1	0	0	0	0	1	0	0	0	16983	1783	62	5	2727	5	UNC13C	15	54307825	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1640176	54307825	48223567	614	133262											
DYX1C1	161582	broad.mit.edu	37	chr15	55783358	55783358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgtatttttgatcttccCgctttgctgcagcttttgct	9	10	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:55783358C>T	uc002adc.2	-	4	736	c.368G>A	c.(367-369)CGG>CAG	p.R123Q	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Missense_Mutation_p.R123Q|DYX1C1_uc002add.2_Missense_Mutation_p.R123Q	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	123					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TTGATCTTCCCGCTTTGCTGC	0.378													T	55783358	C	T	55783358	3	4	269	1	0	0	0	0	1	0	0	0	4862	652	23	1	1025	1	DYX1C1	15	55783358	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	1475533	55783358	46748034	615	133263											
CGNL1	84952	broad.mit.edu	37	chr15	57743743	57743743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatctattggaacagaaaAgcaagttgaccatagaagtg	10	5	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:57743743A>C	uc002aeg.2	+	5	1925	c.1849A>C	c.(1849-1851)AGC>CGC	p.S617R	CGNL1_uc010bfw.2_Missense_Mutation_p.S617R	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	617	Potential.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAACAGAAAAGCAAGTTGAC	0.219													C	57743743	A	C	57743743	3	2	269	1	0	0	0	0	1	0	0	0	3304	72	3	5	1863	5	CGNL1	15	57743743	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1960385	57743743	44787649	616	133264											
LACTB	114294	broad.mit.edu	37	chr15	63433967	63433967	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatagcaccgctttgaAgattgcccttgaatttgata	7	10	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:63433967A>T	uc002alw.2	+	6	1646	c.1607A>T	c.(1606-1608)AAG>ATG	p.K536M		NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	536						mitochondrion	hydrolase activity				0						ACCGCTTTGAAGATTGCCCTT	0.373													T	63433967	A	T	63433967	3	4	269	1	0	0	0	0	1	0	0	0	8597	72	3	5	1633	5	LACTB	15	63433967	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5690224	63433967	39097425	617	133265											
HERC1	8925	broad.mit.edu	37	chr15	63966564	63966564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttaattttgcccccaaacTggtcttccaaaagcccatga	6	13	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:63966564T>C	uc002amp.2	-	38	7971	c.7823A>G	c.(7822-7824)CAG>CGG	p.Q2608R		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2608					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GCCCCCAAACTGGTCTTCCAA	0.383													C	63966564	T	C	63966564	3	2	269	1	0	0	0	0	1	0	0	0	7057	1580	55	3	6926	3	HERC1	15	63966564	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	532597	63966564	38564828	618	133266											
HERC1	8925	broad.mit.edu	37	chr15	63970195	63970195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcctcctatcacagccaGcacgggccacacctctatgc	6	18	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:63970195G>A	uc002amp.2	-	37	7067	c.6919C>T	c.(6919-6921)CTG>TTG	p.L2307L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2307					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						ATCACAGCCAGCACGGGCCAC	0.547													A	63970195	G	A	63970195	2	1	269	1	0	0	0	0	0	0	0	1	7057	962	34	2		2	HERC1	15	63970195	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	3631	63970195	38561197	619	133267											
PDCD7	10081	broad.mit.edu	37	chr15	65412073	65412073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctggatccccaaacaacTtggactcaatttcacgtttc	5	13	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:65412073T>G	uc002aol.2	-	3	1284	c.1229A>C	c.(1228-1230)AAG>ACG	p.K410T		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	410	Potential.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0						CCCAAACAACTTGGACTCAAT	0.274													G	65412073	T	G	65412073	3	3	269	1	0	0	0	0	1	0	0	0	11625	1609	56	5	240	5	PDCD7	15	65412073	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1441878	65412073	37119319	620	133268											
IQCH	64799	broad.mit.edu	37	chr15	67664882	67664882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcttttatcgccagcagaAgtgggcatcaggtgtgattg	12	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:67664882A>C	uc002aqo.1	+	9	1234	c.1187A>C	c.(1186-1188)AAG>ACG	p.K396T	IQCH_uc010ujv.1_Missense_Mutation_p.K215T|IQCH_uc002aqn.1_Missense_Mutation_p.K223T|IQCH_uc002aqq.1_Missense_Mutation_p.K144T|IQCH_uc002aqp.1_Missense_Mutation_p.K148T	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	396	IQ.									skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CGCCAGCAGAAGTGGGCATCA	0.448													C	67664882	A	C	67664882	3	2	269	1	0	0	0	0	1	0	0	0	7811	72	3	5	1349	5	IQCH	15	67664882	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2252809	67664882	34866510	621	133269											
MAN2C1	4123	broad.mit.edu	37	chr15	75654237	75654237	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgcagaaagaagttctGgccctgcaaaaactgcctca	8	13	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:75654237G>C	uc002baf.2	-	9	1077	c.1060C>G	c.(1060-1062)CAG>GAG	p.Q354E	MAN2C1_uc002bag.2_Missense_Mutation_p.Q354E|MAN2C1_uc002bah.2_Missense_Mutation_p.Q354E|MAN2C1_uc010bkk.2_Missense_Mutation_p.Q255E|MAN2C1_uc010umi.1_Missense_Mutation_p.Q136E|MAN2C1_uc010umj.1_RNA	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	354					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						AAGAAGTTCTGGCCCTGCAAA	0.612													C	75654237	G	C	75654237	3	2	269	1	0	0	0	0	1	0	0	0	9218	1357	47	5	2134	5	MAN2C1	15	75654237	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	7989355	75654237	26877155	622	133270											
C15orf27	123591	broad.mit.edu	37	chr15	76430105	76430105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcccaacaagtagacgaAgaaaccaagagcattgctcc	7	12	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:76430105A>C	uc002bbq.2	+	3	251	c.96A>C	c.(94-96)GAA>GAC	p.E32D	C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	32						integral to membrane					0						AAGTAGACGAAGAAACCAAGA	0.527													C	76430105	A	C	76430105	3	2	269	1	0	0	0	0	1	0	0	0	1788	69	3	5	102	5	C15orf27	15	76430105	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	775868	76430105	26101287	623	133271											
C15orf26	161502	broad.mit.edu	37	chr15	81430438	81430438	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttagatatgggcaggacTtttgcctggggataacagga	13	7	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:81430438T>G	uc002bgb.2	+	4	466	c.439T>G	c.(439-441)TTT>GTT	p.F147V	C15orf26_uc010blp.1_Missense_Mutation_p.F122V	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	147											0						TGGGCAGGACTTTTGCCTGGG	0.393													G	81430438	T	G	81430438	3	3	269	1	0	0	0	0	1	0	0	0	1787	1609	56	5	453	5	C15orf26	15	81430438	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5000333	81430438	21100954	624	133272											
TMC3	342125	broad.mit.edu	37	chr15	81644103	81644103	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaccggtccaccacaaAgtagatgagataaatgctcc	10	11	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:81644103A>C	uc002bgo.1	-	10	1015	c.1015T>G	c.(1015-1017)TTT>GTT	p.F339V	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.F339V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	339	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						TCCACCACAAAGTAGATGAGA	0.527													C	81644103	A	C	81644103	3	2	269	1	0	0	0	0	1	0	0	0	15983	72	3	5	2339	5	TMC3	15	81644103	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	213665	81644103	20887289	625	133273											
C15orf42	90381	broad.mit.edu	37	chr15	90126064	90126064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggaataaagctgtcaAgtgaacctcatctttctccg	10	9	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:90126064A>G	uc002boe.2	+	2	802	c.802A>G	c.(802-804)AGT>GGT	p.S268G		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	268					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AAAGCTGTCAAGTGAACCTCA	0.493													G	90126064	A	G	90126064	3	3	269	1	0	0	0	0	1	0	0	0	1796	72	3	3	808	3	C15orf42	15	90126064	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8481961	90126064	12405328	626	133274											
C15orf42	90381	broad.mit.edu	37	chr15	90143840	90143840	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgaatcaagtaaaaAgtagtctcttaaaaactagt	6	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:90143840A>C	uc002boe.2	+	9	2077	c.2077A>C	c.(2077-2079)AGT>CGT	p.S693R		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	693					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCAAGTAAAAAGTAGTCTCTT	0.284													C	90143840	A	C	90143840	3	2	269	1	0	0	0	0	1	0	0	0	1796	72	3	5	2111	5	C15orf42	15	90143840	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	17776	90143840	12387552	627	133275											
IQGAP1	8826	broad.mit.edu	37	chr15	90996483	90996483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcaattgagcagttcAgttactggtcttaccaatat	9	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:90996483A>G	uc002bpl.1	+	13	1547	c.1446A>G	c.(1444-1446)TCA>TCG	p.S482S		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	482					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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			TGAGCAGTTCAGTTACTGGTC	0.458													G	90996483	A	G	90996483	2	3	269	1	0	0	0	0	0	0	0	1	7814	175	7	3		3	IQGAP1	15	90996483	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	852643	90996483	11534909	628	133276											
IQGAP1	8826	broad.mit.edu	37	chr15	91017188	91017188	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgagatcgcctgcagtacTtccgggaccatgtaagcacc	10	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:91017188T>G	uc002bpl.1	+	21	2595	c.2494T>G	c.(2494-2496)TTC>GTC	p.F832V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	832	IQ 3.				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			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	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)			CCTGCAGTACTTCCGGGACCA	0.453													G	91017188	T	G	91017188	3	3	269	1	0	0	0	0	1	0	0	0	7814	1609	56	5	2576	5	IQGAP1	15	91017188	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	20705	91017188	11514204	629	133277											
BLM	641	broad.mit.edu	37	chr15	91358484	91358484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctataaatagaccgtttcTtaagccttcatatgcattct	5	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:91358484T>G	uc002bpr.2	+	22	4326	c.4229T>G	c.(4228-4230)CTT>CGT	p.L1410R	BLM_uc010uqh.1_Missense_Mutation_p.L1410R|BLM_uc010uqi.1_Missense_Mutation_p.L1035R|BLM_uc010bnx.2_Missense_Mutation_p.L1279R|BLM_uc002bpt.2_Missense_Mutation_p.L385R	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1410					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			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGACCGTTTCTTAAGCCTTCA	0.418			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				G	91358484	T	G	91358484	3	3	269	1	0	0	0	0	1	0	0	0	1445	1609	56	5	4311	5	BLM	15	91358484	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	341296	91358484	11172908	630	133278											
PRC1	9055	broad.mit.edu	37	chr15	91524205	91524205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaacctgtcccagagctctCggatttgagtacgcagcccc	10	15	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:91524205C>T	uc002bqm.2	-	6	888	c.731G>A	c.(730-732)CGA>CAA	p.R244Q	PRC1_uc002bqn.2_Missense_Mutation_p.R244Q|PRC1_uc002bqo.2_Missense_Mutation_p.R244Q|PRC1_uc010uqs.1_Missense_Mutation_p.R203Q|PRC1_uc010uqt.1_3'UTR	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	244	Potential.|Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCAGAGCTCTCGGATTTGAGT	0.498													T	91524205	C	T	91524205	3	4	269	1	0	0	0	0	1	0	0	0	12446	884	31	1	1171	1	PRC1	15	91524205	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	165721	91524205	11007187	631	133279											
SLCO3A1	28232	broad.mit.edu	37	chr15	92663821	92663821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagtacctggagcagcAgtttaacctcaccacctctt	10	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:92663821A>G	uc002bqx.2	+	5	1337	c.1136A>G	c.(1135-1137)CAG>CGG	p.Q379R	SLCO3A1_uc002bqy.2_Missense_Mutation_p.Q379R|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.Q321R	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	379	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTGGAGCAGCAGTTTAACCTC	0.567													G	92663821	A	G	92663821	3	3	269	1	0	0	0	0	1	0	0	0	14728	188	7	3	1154	3	SLCO3A1	15	92663821	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1139616	92663821	9867571	632	133280											
LRRK1	79705	broad.mit.edu	37	chr15	101589862	101589862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgcagtgtggaatcttccGacgtgaactggaaaaagaag	12	6	1	2	rs78587240		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr15:101589862G>A	uc002bwr.2	+	23	3632	c.3313G>A	c.(3313-3315)GAC>AAC	p.D1105N	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1105					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			GGAATCTTCCGACGTGAACTG	0.512													A	101589862	G	A	101589862	3	1	269	1	0	0	0	0	1	0	0	0	9032	1058	37	1	3399	1	LRRK1	15	101589862	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	8926041	101589862	941530	633	133281											
C16orf42	115939	broad.mit.edu	37	chr16	1400202	1400202	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccttgccccatttaaacTtccgcagcaaaatgacagca	6	14	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:1400202T>G	uc002cll.2	-	4	628	c.560A>C	c.(559-561)AAG>ACG	p.K187T	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	187					rRNA processing						0		Hepatocellular(780;0.0893)				CCATTTAAACTTCCGCAGCAA	0.592													G	1400202	T	G	1400202	3	3	269	1	0	0	0	0	1	0	0	0	1813	1609	56	5	390	5	C16orf42	16	1400202	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		1400202	88954551	634	133282											
PKD1	5310	broad.mit.edu	37	chr16	2159146	2159146	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccttctgcagcgagaAgtaccaggcgtaggcgaccc	13	13	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:2159146A>C	uc002cos.1	-	15	6231	c.6022T>G	c.(6022-6024)TTC>GTC	p.F2008V	PKD1_uc002cot.1_Missense_Mutation_p.F2008V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2008	PKD 16.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TGCAGCGAGAAGTACCAGGCG	0.687													C	2159146	A	C	2159146	3	2	269	1	0	0	0	0	1	0	0	0	11963	72	3	5	7017	5	PKD1	16	2159146	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	758944	2159146	88195607	635	133283											
DCI	1632	broad.mit.edu	37	chr16	2290019	2290019	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcctctctaagtacatctgCagggacttctggatggagtc	11	10	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:2290019C>A	uc002cpr.2	-	7	906	c.870G>T	c.(868-870)CTG>CTT	p.L290L	DCI_uc002cps.2_Silent_p.L273L	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	290					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						AGTACATCTGCAGGGACTTCT	0.572													A	2290019	C	A	2290019	2	1	269	1	0	0	0	0	0	0	0	1	4289	697	25	5		5	DCI	16	2290019	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	130873	2290019	88064734	636	133284											
SRRM2	23524	broad.mit.edu	37	chr16	2817433	2817433	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctagcaggggccagaAccccagctgccttggcagct	12	14	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:2817433A>C	uc002crk.2	+	11	7453	c.6904A>C	c.(6904-6906)ACC>CCC	p.T2302P	SRRM2_uc002crj.1_Missense_Mutation_p.T2206P|SRRM2_uc002crl.1_Missense_Mutation_p.T2302P|SRRM2_uc010bsu.1_Missense_Mutation_p.T2206P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2302	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGGGCCAGAACCCCAGCTGC	0.627													C	2817433	A	C	2817433	3	2	269	1	0	0	0	0	1	0	0	0	15168	43	2	5	6942	5	SRRM2	16	2817433	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	527414	2817433	87537320	637	133285											
XYLT1	64131	broad.mit.edu	37	chr16	17228554	17228554	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcctgattcaccacggcTtcaaacttgcgggcaaagaa	8	11	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:17228554T>G	uc002dfa.2	-	9	1888	c.1803A>C	c.(1801-1803)GAA>GAC	p.E601D		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	601	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						TCACCACGGCTTCAAACTTGC	0.547													G	17228554	T	G	17228554	3	3	269	1	0	0	0	0	1	0	0	0	17460	1606	56	5	1092	5	XYLT1	16	17228554	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	14411121	17228554	73126199	638	133286											
ACSM3	6296	broad.mit.edu	37	chr16	20792440	20792440	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccccgttttgagccgacTtctatcttgcaagtaagcca	7	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:20792440T>G	uc002dhr.2	+	6	1114	c.927T>G	c.(925-927)ACT>ACG	p.T309T	ACSM3_uc002dhq.2_Silent_p.T309T|ACSM3_uc010vba.1_Silent_p.T338T|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	309					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						TTGAGCCGACTTCTATCTTGC	0.443													G	20792440	T	G	20792440	2	3	269	1	0	0	0	0	0	0	0	1	185	1596	56	5		5	ACSM3	16	20792440	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3563886	20792440	69562313	639	133287											
OTOA	146183	broad.mit.edu	37	chr16	21739716	21739716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacctcaaccctgagcaaaAggctgcagtgaggctcaagc	11	12	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:21739716A>G	uc002djh.2	+	19	2172	c.2171A>G	c.(2170-2172)AAG>AGG	p.K724R	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.K645R|OTOA_uc002dji.2_Missense_Mutation_p.K400R|OTOA_uc010vbk.1_Missense_Mutation_p.K372R	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	738					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CCTGAGCAAAAGGCTGCAGTG	0.602													G	21739716	A	G	21739716	3	3	269	1	0	0	0	0	1	0	0	0	11302	72	3	3	2291	3	OTOA	16	21739716	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	947276	21739716	68615037	640	133288											
UBFD1	56061	broad.mit.edu	37	chr16	23578341	23578341	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcccatgggctccataaAaaatgtggtcagtgaaccta	9	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:23578341A>C	uc002dlv.2	+	6	972	c.770A>C	c.(769-771)AAA>ACA	p.K257T		NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	257											0				GBM - Glioblastoma multiforme(48;0.0331)		GGCTCCATAAAAAATGTGGTC	0.483													C	23578341	A	C	23578341	3	2	269	1	0	0	0	0	1	0	0	0	16881	14	1	5	792	5	UBFD1	16	23578341	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1838625	23578341	66776412	641	133289											
ATP2A1	487	broad.mit.edu	37	chr16	28905544	28905544	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcaccggctccacTtacgctccagagggagaggt	10	14	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:28905544T>G	uc002dro.1	+	10	1348	c.1164T>G	c.(1162-1164)ACT>ACG	p.T388T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.T388T|ATP2A1_uc002drp.1_Silent_p.T263T|ATP2A1_uc010bym.1_RNA	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	388	Interacts with phospholamban 1 (By similarity).|Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCGGCTCCACTTACGCTCCAG	0.582													G	28905544	T	G	28905544	2	3	269	1	0	0	0	0	0	0	0	1	1136	1596	56	5		5	ATP2A1	16	28905544	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5327203	28905544	61449209	642	133290											
TAOK2	9344	broad.mit.edu	37	chr16	29990301	29990301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcactctccagtgcacaAgaaaccccttcaggaggtag	8	14	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:29990301A>C	uc002dva.1	+	6	1142	c.359A>C	c.(358-360)AAG>ACG	p.K120T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.K120T|TAOK2_uc002dvc.1_Missense_Mutation_p.K120T|TAOK2_uc010bzm.1_Missense_Mutation_p.K120T|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	120	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCAGTGCACAAGAAACCCCTT	0.562													C	29990301	A	C	29990301	3	2	269	1	0	0	0	0	1	0	0	0	15545	72	3	5	377	5	TAOK2	16	29990301	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1084757	29990301	60364452	643	133291											
TAOK2	9344	broad.mit.edu	37	chr16	30002181	30002181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggagctggagctgctcaAcgcttaccagagcaagatca	11	11	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:30002181A>G	uc002dvc.1	+	18	3305	c.2522A>G	c.(2521-2523)AAC>AGC	p.N841S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(1)	1						GAGCTGCTCAACGCTTACCAG	0.622													G	30002181	A	G	30002181	3	3	269	1	0	0	0	0	1	0	0	0	15545	43	2	3	4064	3	TAOK2	16	30002181	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	11880	30002181	60352572	644	133292											
BCKDK	10295	broad.mit.edu	37	chr16	31121524	31121524	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgactctgtgacctgcAgatcaaggaccaggcggacg	12	12	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:31121524A>T	uc002eaw.3	+	6	740	c.424_splice	c.e6-2	p.I142_splice	BCKDK_uc002eav.3_Splice_Site_p.I142_splice|BCKDK_uc010cah.2_Splice_Site|BCKDK_uc010cai.2_Splice_Site_p.I142_splice	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase						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			stomach(1)|breast(1)	2						TGTGACCTGCAGATCAAGGAC	0.617													T	31121524	A	T	31121524	5	4	269	1	0	0	0	0	0	0	1	0	1361	202	7	5	440	5	BCKDK	16	31121524	Splice_Site	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1119343	31121524	59233229	645	133293											
ITGAX	3687	broad.mit.edu	37	chr16	31374579	31374579	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgctgggggatgtgAatggggacaagctgacagac	17	6	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:31374579A>C	uc002ebu.1	+	14	1661	c.1594A>C	c.(1594-1596)AAT>CAT	p.N532H	ITGAX_uc002ebt.2_Missense_Mutation_p.N532H|ITGAX_uc010vfk.1_Missense_Mutation_p.N182H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	532	Potential.|Extracellular (Potential).|FG-GAP 6.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGGGGATGTGAATGGGGACAA	0.622													C	31374579	A	C	31374579	3	2	269	1	0	0	0	0	1	0	0	0	7889	246	9	5	1648	5	ITGAX	16	31374579	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	253055	31374579	58980174	646	133294											
ABCC12	94160	broad.mit.edu	37	chr16	48174827	48174827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatttggtgaatgagaActgtctgtaaaacagcatgg	14	4	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:48174827A>C	uc002efc.1	-	4	774	c.428T>G	c.(427-429)ATT>AGT	p.I143S	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.V143G|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	143	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GTGAATGAGAACTGTCTGTAA	0.527													C	48174827	A	C	48174827	3	2	269	1	0	0	0	0	1	0	0	0	52	57	2	5	3755	5	ABCC12	16	48174827	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	16800248	48174827	42179926	647	133295											
NOD2	64127	broad.mit.edu	37	chr16	50750503	50750503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgtctctttagtttgcGcgataacaatatctcagacc	6	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:50750503G>A	uc002egm.1	+	5	2573	c.2468G>A	c.(2467-2469)CGC>CAC	p.R823H	NOD2_uc010cbl.1_Missense_Mutation_p.R601H|NOD2_uc010cbm.1_Missense_Mutation_p.R601H|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_Intron	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	823	LRR 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				TTTAGTTTGCGCGATAACAAT	0.408													A	50750503	G	A	50750503	3	1	269	1	0	0	0	0	1	0	0	0	10517	1087	38	1	2486	1	NOD2	16	50750503	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2575676	50750503	39604250	648	133296											
SALL1	6299	broad.mit.edu	37	chr16	51175945	51175945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgatttttagtacagttcTtcttgtggagcagaagatct	9	5	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:51175945T>G	uc010vgs.1	-	2	219	c.188A>C	c.(187-189)AAG>ACG	p.K63T	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	63					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTACAGTTCTTCTTGTGGAG	0.483													G	51175945	T	G	51175945	3	3	269	1	0	0	0	0	1	0	0	0	13810	1609	56	5	3794	5	SALL1	16	51175945	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	425442	51175945	39178808	649	133297											
KIFC3	3801	broad.mit.edu	37	chr16	57800863	57800863	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgcgcagcagctcctggTtgttgctgttgacctcctcg	11	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:57800863T>A	uc002emp.2	-	10	1450	c.1253A>T	c.(1252-1254)AAC>ATC	p.N418I	KIFC3_uc010vhw.1_Missense_Mutation_p.N316I|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.N279I|KIFC3_uc010vhx.1_Missense_Mutation_p.N279I|KIFC3_uc010cdf.2_Missense_Mutation_p.N279I|KIFC3_uc002emo.3_Missense_Mutation_p.N279I|KIFC3_uc010vhy.1_Missense_Mutation_p.N360I|KIFC3_uc002emq.2_Missense_Mutation_p.N418I|KIFC3_uc010vhz.1_Missense_Mutation_p.N440I|KIFC3_uc002emr.1_Missense_Mutation_p.N195I	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	418	Potential.				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			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				CAGCTCCTGGTTGTTGCTGTT	0.637													A	57800863	T	A	57800863	3	1	269	1	0	0	0	0	1	0	0	0	8314	1725	60	5	1297	5	KIFC3	16	57800863	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6624918	57800863	32553890	650	133298											
CDH11	1009	broad.mit.edu	37	chr16	65005898	65005898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcataaggggcagcaaacTtgggagcattatcgttgaca	11	8	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:65005898T>C	uc002eoi.2	-	10	1894	c.1460A>G	c.(1459-1461)AAG>AGG	p.K487R	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K487R|CDH11_uc010vin.1_Missense_Mutation_p.K361R	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	487	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCAGCAAACTTGGGAGCATT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			C	65005898	T	C	65005898	3	2	269	1	0	0	0	0	1	0	0	0	3097	1609	56	3	946	3	CDH11	16	65005898	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7205035	65005898	25348855	651	133299											
PLA2G15	23659	broad.mit.edu	37	chr16	68288856	68288856	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacatccagggccacccagTttcctgatggtgtggatgta	11	10	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:68288856T>G	uc002evr.2	+	3	402	c.319T>G	c.(319-321)TTT>GTT	p.F107V	PLA2G15_uc010vld.1_Missense_Mutation_p.F107V|PLA2G15_uc010vle.1_Missense_Mutation_p.S54R|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	107					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GGCCACCCAGTTTCCTGATGG	0.542													G	68288856	T	G	68288856	3	3	269	1	0	0	0	0	1	0	0	0	11992	1725	60	5	329	5	PLA2G15	16	68288856	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3282958	68288856	22065897	652	133300											
HYDIN	54768	broad.mit.edu	37	chr16	71101268	71101268	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgccagctcgtatttcTgcacagtgttggagcataat	11	9	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:71101268T>A	uc002ezr.2	-	15	2128	c.2000A>T	c.(1999-2001)CAG>CTG	p.Q667L	HYDIN_uc010cfz.1_Missense_Mutation_p.Q412L|HYDIN_uc002ezv.2_Missense_Mutation_p.Q667L|HYDIN_uc010vmc.1_Missense_Mutation_p.Q684L|HYDIN_uc010vmd.1_Missense_Mutation_p.Q694L|HYDIN_uc002ezw.3_Missense_Mutation_p.Q684L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	667										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CTCGTATTTCTGCACAGTGTT	0.532													A	71101268	T	A	71101268	3	1	269	1	0	0	0	0	1	0	0	0	7467	1580	55	5	13662	5	HYDIN	16	71101268	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2812412	71101268	19253485	653	133301											
TAT	6898	broad.mit.edu	37	chr16	71606172	71606172	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatgagacaagctgtcTtttcatcaattagatattcc	6	8	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:71606172T>G	uc002fap.2	-	6	722	c.623A>C	c.(622-624)AAG>ACG	p.K208T		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	208					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ACAAGCTGTCTTTTCATCAAT	0.408													G	71606172	T	G	71606172	3	3	269	1	0	0	0	0	1	0	0	0	15587	1609	56	5	769	5	TAT	16	71606172	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	504904	71606172	18748581	654	133302											
CDH13	1012	broad.mit.edu	37	chr16	83711957	83711957	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaacgagggcccagtcTtctacccagaccccatgatg	9	14	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr16:83711957T>G	uc002fgx.2	+	10	1549	c.1429T>G	c.(1429-1431)TTC>GTC	p.F477V	CDH13_uc010vns.1_Missense_Mutation_p.F524V|CDH13_uc010vnt.1_Missense_Mutation_p.F223V|CDH13_uc010vnu.1_Missense_Mutation_p.F438V	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	477	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)		GGGCCCAGTCTTCTACCCAGA	0.607													G	83711957	T	G	83711957	3	3	269	1	0	0	0	0	1	0	0	0	3099	1609	56	5	1467	5	CDH13	16	83711957	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12105785	83711957	6642796	655	133303											
OR1E2	8388	broad.mit.edu	37	chr17	3336511	3336511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgagccctcccatgataaAtatcacccattcattaactc	3	13	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:3336511A>C	uc010vre.1	-	1	625	c.625T>G	c.(625-627)TTT>GTT	p.F209V		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						CCCATGATAAATATCACCCAT	0.468													C	3336511	A	C	3336511	3	2	269	1	0	0	0	0	1	0	0	0	10955	101	4	5	349	5	OR1E2	17	3336511	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08		3336511	77858699	656	133304											
GGT6	124975	broad.mit.edu	37	chr17	4461803	4461803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtcagggatgggcgccccgGagcgcagggctgcctccaac	17	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:4461803G>T	uc002fyd.3	-	4	1049	c.989C>A	c.(988-990)TCC>TAC	p.S330Y	GGT6_uc010vsb.1_Missense_Mutation_p.S182Y|GGT6_uc002fyc.3_Missense_Mutation_p.S298Y|GGT6_uc010vsc.1_Missense_Mutation_p.S336Y	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	330	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						GGGCGCCCCGGAGCGCAGGGC	0.692													T	4461803	G	T	4461803	3	4	269	1	0	0	0	0	1	0	0	0	6363	1174	41	5	496	5	GGT6	17	4461803	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1125292	4461803	76733407	657	133305											
DVL2	1856	broad.mit.edu	37	chr17	7133690	7133690	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggaggcgccagttcTgcccgaggctcatggactgg	18	11	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:7133690T>C	uc002gez.1	-	3	606	c.324A>G	c.(322-324)GCA>GCG	p.A108A	DVL2_uc010vtr.1_Silent_p.A108A|DVL2_uc010vts.1_Silent_p.A10A|DVL2_uc010clz.1_Silent_p.A108A	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	108					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						GCGCCAGTTCTGCCCGAGGCT	0.582													C	7133690	T	C	7133690	2	2	269	1	0	0	0	0	0	0	0	1	4836	1567	55	3		3	DVL2	17	7133690	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2671887	7133690	74061520	658	133306											
EIF5A	1984	broad.mit.edu	37	chr17	7214775	7214775	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaggagattgagcagaAgtacgactgtggagaagaga	16	4	0	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:7214775A>C	uc010vtv.1	+	4	614	c.377A>C	c.(376-378)AAG>ACG	p.K126T	EIF5A_uc002gfr.2_Missense_Mutation_p.K156T|EIF5A_uc002gft.2_Missense_Mutation_p.K126T|EIF5A_uc002gfu.2_Missense_Mutation_p.K126T	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	126					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				0						ATTGAGCAGAAGTACGACTGT	0.552													C	7214775	A	C	7214775	3	2	269	1	0	0	0	0	1	0	0	0	5041	72	3	5	481	5	EIF5A	17	7214775	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	81085	7214775	73980435	659	133307											
TP53	7157	broad.mit.edu	37	chr17	7578446	7578446	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgactgcttgtagaTggccatggcgcggacgcggg	18	9	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:7578446T>A	uc002gim.2	-	5	678	c.484A>T	c.(484-486)ATC>TTC	p.I162F	TP53_uc002gig.1_Missense_Mutation_p.I162F|TP53_uc002gih.2_Missense_Mutation_p.I162F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I30F|TP53_uc010cng.1_Missense_Mutation_p.I30F|TP53_uc002gii.1_Missense_Mutation_p.I30F|TP53_uc010cnh.1_Missense_Mutation_p.I162F|TP53_uc010cni.1_Missense_Mutation_p.I162F|TP53_uc002gij.2_Missense_Mutation_p.I162F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I69F|TP53_uc002gio.2_Missense_Mutation_p.I30F|TP53_uc010vug.1_Missense_Mutation_p.I123F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	162	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> S (in sporadic cancers; somatic mutation).|I -> N (in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> F (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I162F(8)|p.0?(7)|p.I162V(5)|p.I162I(4)|p.I162S(4)|p.I162N(3)|p.I162M(3)|p.I162fs*19(2)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.I162fs*8(1)|p.I162_Y163delIY(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.V157_I162delVRAMAI(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.A161fs*7(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TGCTTGTAGATGGCCATGGCG	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7578446	T	A	7578446	3	1	269	1	0	0	0	0	1	0	0	0	16378	1464	51	5	814	5	TP53	17	7578446	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	363671	7578446	73616764	660	133308											
C17orf68	80169	broad.mit.edu	37	chr17	8132666	8132666	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacacccagaagagctgaAggctgaagacagagacgata	11	10	0	6			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:8132666A>C	uc002gkq.3	-	19	3169	c.3110T>G	c.(3109-3111)CTT>CGT	p.L1037R	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	1037					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						GAAGAGCTGAAGGCTGAAGAC	0.557													C	8132666	A	C	8132666	3	2	269	1	0	0	0	0	1	0	0	0	1876	72	3	5	563	5	C17orf68	17	8132666	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	554220	8132666	73062544	661	133309											
MYH10	4628	broad.mit.edu	37	chr17	8526317	8526317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcctccaccttggaaaacTtaggtgggttcatcttctga	8	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:8526317T>G	uc002gll.2	-	2	344	c.248A>C	c.(247-249)AAG>ACG	p.K83T	MYH10_uc002glm.2_Missense_Mutation_p.K83T|MYH10_uc010cnx.2_Missense_Mutation_p.K83T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	83	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			ovary(2)	2						CTTGGAAAACTTAGGTGGGTT	0.398													G	8526317	T	G	8526317	3	3	269	1	0	0	0	0	1	0	0	0	10030	1609	56	5	5842	5	MYH10	17	8526317	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	393651	8526317	72668893	662	133310											
MYH8	4626	broad.mit.edu	37	chr17	10312755	10312755	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatagtgaatcagagagaAgtgggcctcagccttgcctt	12	9	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10312755A>C	uc002gmm.2	-	16	1833	c.1738T>G	c.(1738-1740)TTC>GTC	p.F580V	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	580	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			skin(6)|ovary(3)|breast(2)	11						ATCAGAGAGAAGTGGGCCTCA	0.517									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				C	10312755	A	C	10312755	3	2	269	1	0	0	0	0	1	0	0	0	10041	72	3	5	4175	5	MYH8	17	10312755	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1786438	10312755	70882455	663	133311											
MYH1	4619	broad.mit.edu	37	chr17	10399818	10399818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacttgacttggttcaActcaagctggatgcgcagga	11	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10399818A>C	uc002gmo.2	-	34	4799	c.4705T>G	c.(4705-4707)TTG>GTG	p.L1569V	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1569	Potential.			L -> V (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						ACTTGGTTCAACTCAAGCTGG	0.413													C	10399818	A	C	10399818	3	2	269	1	0	0	0	0	1	0	0	0	10029	40	2	5	1142	5	MYH1	17	10399818	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	87063	10399818	70795392	664	133312											
MYH2	4620	broad.mit.edu	37	chr17	10430318	10430318	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtaaaggcttgtttgccTcttgataactgagacaccag	10	8	1	3	rs1139442		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10430318T>C	uc010coi.2	-	29	4055	c.3927A>G	c.(3925-3927)AGA>AGG	p.R1309R	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.R1309R|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1309	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTTGTTTGCCTCTTGATAACT	0.373													C	10430318	T	C	10430318	2	2	269	1	0	0	0	0	0	0	0	1	10035	1548	54	3		3	MYH2	17	10430318	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	30500	10430318	70764892	665	133313											
MYH2	4620	broad.mit.edu	37	chr17	10446197	10446197	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgacatttcttaccaataAgttctggtttcttattcgat	5	7	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10446197A>C	uc010coi.2	-	10	1027	c.899T>G	c.(898-900)CTT>CGT	p.L300R	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L300R|MYH2_uc010coj.2_Missense_Mutation_p.L300R	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	300	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			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTTACCAATAAGTTCTGGTTT	0.348													C	10446197	A	C	10446197	3	2	269	1	0	0	0	0	1	0	0	0	10035	72	3	5	5050	5	MYH2	17	10446197	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	15879	10446197	70749013	666	133314											
MYH3	4621	broad.mit.edu	37	chr17	10543950	10543950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttttcacaggctttcTtgctgtcaatgaattgtccc	8	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:10543950T>G	uc002gmq.1	-	19	2296	c.2219A>C	c.(2218-2220)AAG>ACG	p.K740T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	740	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ACAGGCTTTCTTGCTGTCAAT	0.284													G	10543950	T	G	10543950	3	3	269	1	0	0	0	0	1	0	0	0	10036	1609	56	5	3691	5	MYH3	17	10543950	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	97753	10543950	70651260	667	133315											
DNAH9	1770	broad.mit.edu	37	chr17	11827151	11827151	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaacttggatacaccTtcaacaatcagaactttcac	5	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:11827151T>G	uc002gne.2	+	62	11838	c.11770T>G	c.(11770-11772)TTC>GTC	p.F3924V	DNAH9_uc010coo.2_Missense_Mutation_p.F3218V|DNAH9_uc002gnf.2_Missense_Mutation_p.F236V|DNAH9_uc010vvh.1_Missense_Mutation_p.F277V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3924	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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TGGATACACCTTCAACAATCA	0.458													G	11827151	T	G	11827151	3	3	269	1	0	0	0	0	1	0	0	0	4608	1609	56	5	12016	5	DNAH9	17	11827151	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1283201	11827151	69368059	668	133316											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16852058	16852058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtggcttacctggacTtgcttctgagcctctgtgct	12	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:16852058T>C	uc002gqs.1	-	3	452	c.439A>G	c.(439-441)AGT>GGT	p.S147G	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S101G|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.S147G	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	147	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						TTACCTGGACTTGCTTCTGAG	0.552									IgA_Deficiency_Selective				C	16852058	T	C	16852058	3	2	269	1	0	0	0	0	1	0	0	0	16284	1609	56	3	454	3	TNFRSF13B	17	16852058	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5024907	16852058	64343152	669	133317											
ULK2	9706	broad.mit.edu	37	chr17	19705149	19705149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagccttcgtccaactgtcTgtgctgtgtctgctggtact	11	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:19705149T>C	uc002gwm.3	-	16	1891	c.1382A>G	c.(1381-1383)CAG>CGG	p.Q461R	ULK2_uc002gwn.2_Missense_Mutation_p.Q461R	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	461					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCCAACTGTCTGTGCTGTGTC	0.498													C	19705149	T	C	19705149	3	2	269	1	0	0	0	0	1	0	0	0	16973	1580	55	3	1776	3	ULK2	17	19705149	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2853091	19705149	61490061	670	133318											
KIAA0100	9703	broad.mit.edu	37	chr17	26943707	26943707	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacacttcggccaggaaagAaaaagcccatcattctgtgg	9	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:26943707A>T	uc002hbu.2	-	35	6185	c.6086T>A	c.(6085-6087)TTC>TAC	p.F2029Y	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Missense_Mutation_p.F358Y	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2029						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCCAGGAAAGAAAAAGCCCAT	0.443													T	26943707	A	T	26943707	3	4	269	1	0	0	0	0	1	0	0	0	8154	246	9	5	641	5	KIAA0100	17	26943707	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7238558	26943707	54251503	671	133319											
CCL3	6348	broad.mit.edu	37	chr17	34416541	34416541	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacttacatgacaccgggcTtggagcactggctgctcgtc	12	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:34416541T>G	uc002hkv.2	-	2	278	c.176A>C	c.(175-177)AAG>ACG	p.K59T		NM_002983	NP_002974	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	59					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACACCGGGCTTGGAGCACTG	0.582													G	34416541	T	G	34416541	3	3	269	1	0	0	0	0	1	0	0	0	2901	1609	56	5	110	5	CCL3	17	34416541	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7472834	34416541	46778669	672	133320											
SRCIN1	80725	broad.mit.edu	37	chr17	36708201	36708201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgccccccttgggggtaAgagaggctccttcagctggc	15	12	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:36708201A>C	uc002hqd.2	-	14	2873	c.2648T>G	c.(2647-2649)CTT>CGT	p.L883R	SRCIN1_uc002hqf.1_Missense_Mutation_p.L755R|SRCIN1_uc002hqe.2_Missense_Mutation_p.L737R|SRCIN1_uc002hqg.2_Missense_Mutation_p.L189R	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	755					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						CTTGGGGGTAAGAGAGGCTCC	0.612													C	36708201	A	C	36708201	3	2	269	1	0	0	0	0	1	0	0	0	15135	72	3	5	927	5	SRCIN1	17	36708201	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2291660	36708201	44487009	673	133321											
CDK12	51755	broad.mit.edu	37	chr17	37667858	37667858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggagaggaacgttacacaCcagccatagatgtttggagc	12	8	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:37667858C>T	uc010cvv.2	+	8	3329	c.2743C>T	c.(2743-2745)CCA>TCA	p.P915S	CDK12_uc010wef.1_Missense_Mutation_p.P914S|CDK12_uc002hrw.3_Missense_Mutation_p.P915S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	915	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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						ACGTTACACACCAGCCATAGA	0.393										TCGA Ovarian(9;0.13)			T	37667858	C	T	37667858	3	4	269	1	0	0	0	0	1	0	0	0	3128	507	18	4	2773	4	CDK12	17	37667858	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	959657	37667858	43527352	674	133322											
GSDMA	284110	broad.mit.edu	37	chr17	38130640	38130640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcagctccctcagcaaacTtctagggaagaaaaaggagc	10	11	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:38130640T>G	uc002htl.1	+	9	984	c.866T>G	c.(865-867)CTT>CGT	p.L289R	GSDMA_uc002htm.1_Missense_Mutation_p.L289R	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	289					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CTCAGCAAACTTCTAGGGAAG	0.512													G	38130640	T	G	38130640	3	3	269	1	0	0	0	0	1	0	0	0	6816	1609	56	5	896	5	GSDMA	17	38130640	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	462782	38130640	43064570	675	133323											
KRT222	125113	broad.mit.edu	37	chr17	38816273	38816273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggaggtggcgataagTtgctatttcttgttccagcc	11	8	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:38816273T>C	uc002hvc.2	-	3	477	c.412A>G	c.(412-414)ACT>GCT	p.T138A	KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.T98A|KRT222_uc010cxc.2_Missense_Mutation_p.T98A	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	138	Potential.					intermediate filament	structural molecule activity			central_nervous_system(1)|skin(1)	2						TGGCGATAAGTTGCTATTTCT	0.433													C	38816273	T	C	38816273	3	2	269	1	0	0	0	0	1	0	0	0	8459	1725	60	3	491	3	KRT222	17	38816273	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	685633	38816273	42378937	676	133324											
KRT34	3885	broad.mit.edu	37	chr17	39537321	39537321	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatacctcctcatggttcTtcttcaagcagatcagctcc	5	14	6	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:39537321T>G	uc002hwm.2	-	3	713	c.701A>C	c.(700-702)AAG>ACG	p.K234T		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	234	Rod.|Coil 1B.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				CTCATGGTTCTTCTTCAAGCA	0.512													G	39537321	T	G	39537321	3	3	269	1	0	0	0	0	1	0	0	0	8471	1609	56	5	629	5	KRT34	17	39537321	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	721048	39537321	41657889	677	133325											
NT5C3L	115024	broad.mit.edu	37	chr17	39987098	39987098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgggctatctgaaacTtctgaatcttctgctgacat	7	12	4	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:39987098T>C	uc002hyc.3	-	6	470	c.461A>G	c.(460-462)AAG>AGG	p.K154R	NT5C3L_uc002hxx.3_Missense_Mutation_p.K19R|NT5C3L_uc010wfu.1_Missense_Mutation_p.K19R|NT5C3L_uc002hyb.3_Missense_Mutation_p.K77R|NT5C3L_uc002hyd.3_Missense_Mutation_p.K77R|NT5C3L_uc002hxy.3_Missense_Mutation_p.K112R|NT5C3L_uc002hxz.3_Missense_Mutation_p.K77R|NT5C3L_uc002hya.3_Missense_Mutation_p.K112R	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	5'-nucleotidase, cytosolic III-like	120						cytoplasm	5'-nucleotidase activity|magnesium ion binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TATCTGAAACTTCTGAATCTT	0.408													C	39987098	T	C	39987098	3	2	269	1	0	0	0	0	1	0	0	0	10689	1609	56	3	559	3	NT5C3L	17	39987098	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	449777	39987098	41208112	678	133326											
DHX58	79132	broad.mit.edu	37	chr17	40257153	40257153	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggttcagggttccatcTtggaacttctggatcacttc	10	9	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:40257153T>C	uc002hyw.3	-	10	1507	c.1284A>G	c.(1282-1284)CAA>CAG	p.Q428Q	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.Q421Q	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	428	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGTTCCATCTTGGAACTTCT	0.582													C	40257153	T	C	40257153	2	2	269	1	0	0	0	0	0	0	0	1	4514	1606	56	3		3	DHX58	17	40257153	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	270055	40257153	40938057	679	133327											
KCNH4	23415	broad.mit.edu	37	chr17	40314288	40314288	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggttcagccggcaaaccTtttccttcacctcctcagcc	6	18	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:40314288T>G	uc002hzb.2	-	15	2969	c.2636A>C	c.(2635-2637)AAG>ACG	p.K879T		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	879	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGGCAAACCTTTTCCTTCAC	0.502													G	40314288	T	G	40314288	3	3	269	1	0	0	0	0	1	0	0	0	8034	1609	56	5	425	5	KCNH4	17	40314288	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	57135	40314288	40880922	680	133328											
WNK4	65266	broad.mit.edu	37	chr17	40936492	40936492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaaagtacgatgaggcCgtggacgtgtacgcgttcgg	17	7	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:40936492C>T	uc002ibj.2	+	4	1086	c.1065C>T	c.(1063-1065)GCC>GCT	p.A355A	WNK4_uc010wgx.1_Missense_Mutation_p.P49L|WNK4_uc002ibk.1_Silent_p.A127A|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	355	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACGATGAGGCCGTGGACGTGT	0.592													T	40936492	C	T	40936492	2	4	269	1	0	0	0	0	0	0	0	1	17377	639	23	1		1	WNK4	17	40936492	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	622204	40936492	40258718	681	133329											
AOC3	8639	broad.mit.edu	37	chr17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G													gctttctgacccagcggctgINSgggccagggctggtggatgc							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:41003596_41003597T>TG	uc002ibv.3	+	0	396_397	c.236_237T>TG	c.(235-237)ctgfs	p.L79fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	79					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACCCAGCGGCTGGGGCCAGGGC	0.658													G	41003598	-	G	41003597	7	5	269	1	0	1	1	0	0	0	0	0	728	1335	47	0	239	0	AOC3	17	41003597	Frame_Shift_Ins	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	67105	41003597	40191613	682	133330											
CD300LG	146894	broad.mit.edu	37	chr17	41926086	41926086	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaccatctatgcagaAgaagaaggccaggagacaat	11	9	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:41926086A>C	uc002iem.2	+	2	245	c.204A>C	c.(202-204)GAA>GAC	p.E68D	CD300LG_uc002iek.1_Missense_Mutation_p.E68D|CD300LG_uc002iel.1_Missense_Mutation_p.E68D|CD300LG_uc010czk.2_Missense_Mutation_p.E68D|CD300LG_uc010wil.1_Missense_Mutation_p.E68D|CD300LG_uc010czl.2_Missense_Mutation_p.E68D	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g precursor	68	Extracellular (Potential).|Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTATGCAGAAGAAGAAGGCC	0.587													C	41926086	A	C	41926086	3	2	269	1	0	0	0	0	1	0	0	0	3002	69	3	5	210	5	CD300LG	17	41926086	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	922489	41926086	39269124	683	133331											
DBF4B	80174	broad.mit.edu	37	chr17	42809588	42809588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggcagcagcagcctcCtgaccaatgcccgctcttgg	14	14	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:42809588C>T	uc002ihf.2	+	6	724	c.511C>T	c.(511-513)CTG>TTG	p.L171L	DBF4B_uc002ihd.1_3'UTR|DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Intron|DBF4B_uc010wjc.1_Silent_p.L155L|DBF4B_uc002ihg.2_3'UTR	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	171					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CAGCAGCCTCCTGACCAATGC	0.567													T	42809588	C	T	42809588	2	4	269	1	0	0	0	0	0	0	0	1	4249	680	24	4		4	DBF4B	17	42809588	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	883502	42809588	38385622	684	133332											
HOXB2	3212	broad.mit.edu	37	chr17	46620515	46620515	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagggaccgggctgtcgagaGaaccctgtaggctaggggag	18	8	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:46620515G>C	uc002inm.2	-	2	1106	c.986C>G	c.(985-987)TCT>TGT	p.S329C		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	329					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGTCGAGAGAACCCTGTAG	0.582													C	46620515	G	C	46620515	3	2	269	1	0	0	0	0	1	0	0	0	7301	942	33	5	88	5	HOXB2	17	46620515	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	3810927	46620515	34574695	685	133333											
SPAG9	9043	broad.mit.edu	37	chr17	49048213	49048213	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactttgtgggctgatgacTtgacctgttttatacagaaa	9	7	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:49048213T>C	uc002itc.2	-	29	3914	c.3705A>G	c.(3703-3705)CAA>CAG	p.Q1235Q	SPAG9_uc002itb.2_Silent_p.Q1221Q|SPAG9_uc002itd.2_Silent_p.Q1225Q|SPAG9_uc002ita.2_Silent_p.Q1091Q	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1235					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGCTGATGACTTGACCTGTTT	0.413													C	49048213	T	C	49048213	2	2	269	1	0	0	0	0	0	0	0	1	14985	1606	56	3		3	SPAG9	17	49048213	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2427698	49048213	32146997	686	133334											
MBTD1	54799	broad.mit.edu	37	chr17	49281253	49281253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccagaccagagtcatttTcaaatccttcatatcttaaa	4	10	4	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:49281253T>C	uc002itr.3	-	8	982	c.638A>G	c.(637-639)GAA>GGA	p.E213G	MBTD1_uc002itp.3_Missense_Mutation_p.E49G|MBTD1_uc002itq.3_Missense_Mutation_p.E213G	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AGAGTCATTTTCAAATCCTTC	0.368													C	49281253	T	C	49281253	3	2	269	1	0	0	0	0	1	0	0	0	9360	1783	62	3	1288	3	MBTD1	17	49281253	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	233040	49281253	31913957	687	133335											
CA10	56934	broad.mit.edu	37	chr17	49710922	49710923	+	Missense_Mutation	DNP	GT	GT	TG													ttggtgcggatgcagcggttGttgagtggctggacaggcct							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:49710922_49710923GT>TG	uc002itw.3	-	8	1864_1865	c.878_879AC>CA	c.(877-879)AAC>ACA	p.N293T	CA10_uc002itu.3_Missense_Mutation_p.N222T|CA10_uc002itv.3_Missense_Mutation_p.N299T|CA10_uc002itx.3_Missense_Mutation_p.N293T|CA10_uc002ity.3_Missense_Mutation_p.N293T|CA10_uc002itz.2_Missense_Mutation_p.N293T	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	293					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGCAGCGGTTGTTGAGTGGCTG	0.525													TG	49710923	GT	TG	49710922	3	4	269	1	0	0	0	0	1	0	0	0	2511	1368	48	5	115	5	CA10	17	49710922	Missense_Mutation	DNP	GT	TCGA-HU-A4GH-01A-11D-A24D-08	429669	49710922	31484288	688	133336											
TMEM100	55273	broad.mit.edu	37	chr17	53798348	53798348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggactgtggtgatcacaacTtcactcttggggctcttctc	11	11	5	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:53798348T>G	uc002iuj.3	-	2	395	c.84A>C	c.(82-84)GAA>GAC	p.E28D	TMEM100_uc002iuk.3_Missense_Mutation_p.E28D	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	28						integral to membrane					0						TGATCACAACTTCACTCTTGG	0.542													G	53798348	T	G	53798348	3	3	269	1	0	0	0	0	1	0	0	0	16012	1606	56	5	324	5	TMEM100	17	53798348	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4087426	53798348	27396862	689	133337											
ANKFN1	162282	broad.mit.edu	37	chr17	54535229	54535229	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcttttgcagctgtcTtgtatgtgggaagatataag	11	6	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:54535229T>A	uc002iun.1	+	13	1490	c.1455T>A	c.(1453-1455)TCT>TCA	p.S485S		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	485										large_intestine(1)|ovary(1)	2						TGCAGCTGTCTTGTATGTGGG	0.473													A	54535229	T	A	54535229	2	1	269	1	0	0	0	0	0	0	0	1	625	1596	56	5		5	ANKFN1	17	54535229	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	736881	54535229	26659981	690	133338											
CUEDC1	404093	broad.mit.edu	37	chr17	55962851	55962851	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggggcggccgtgccTcccccgcccccgcgtgcccc	14	22	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:55962851T>C	uc002ivd.1	-	2	794	c.75A>G	c.(73-75)GGA>GGG	p.G25G	CUEDC1_uc002ive.1_Silent_p.G25G	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	25										skin(2)	2						cggccgtgcctcccccgcccc	0.448													C	55962851	T	C	55962851	2	2	269	1	0	0	0	0	0	0	0	1	4052	1538	54	3		3	CUEDC1	17	55962851	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1427622	55962851	25232359	691	133339											
EPX	8288	broad.mit.edu	37	chr17	56281627	56281627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccaaaagacagcgcaAggccctgagcagaatttcct	8	12	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:56281627A>T	uc002ivq.2	+	12	2077	c.1991A>T	c.(1990-1992)AAG>ATG	p.K664M		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	664					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						AGACAGCGCAAGGCCCTGAGC	0.478													T	56281627	A	T	56281627	3	4	269	1	0	0	0	0	1	0	0	0	5200	72	3	5	2037	5	EPX	17	56281627	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	318776	56281627	24913583	692	133340											
BZRAP1	9256	broad.mit.edu	37	chr17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T													tctggaggccgcctgcggctINStgggggcttctcaggggagc							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						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)					CCGCCTGCGGCTTGGGGGCTTC	0.653													T	56386385	-	T	56386384	7	5	269	1	0	1	1	0	0	0	0	0	1577	1609	56	0	1364	0	BZRAP1	17	56386384	Frame_Shift_Ins	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	104757	56386384	24808826	693	133341											
PPM1E	22843	broad.mit.edu	37	chr17	57033078	57033078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtccttcagagtgatcTttctgcacattatatcccaa	6	10	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:57033078T>C	uc002iwx.2	+	2	660	c.533T>C	c.(532-534)CTT>CCT	p.L178P	PPM1E_uc010ddd.2_Missense_Mutation_p.F8L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	187					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CAGAGTGATCTTTCTGCACAT	0.393													C	57033078	T	C	57033078	3	2	269	1	0	0	0	0	1	0	0	0	12338	1609	56	3	539	3	PPM1E	17	57033078	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	646694	57033078	24162132	694	133342											
USP32	84669	broad.mit.edu	37	chr17	58288813	58288813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttactaacacactggatgcTtgagttcatgaagcatgtgt	10	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:58288813T>C	uc002iyo.1	-	20	2528	c.2242A>G	c.(2242-2244)AGC>GGC	p.S748G	USP32_uc002iyn.1_Missense_Mutation_p.S418G	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	748					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CACTGGATGCTTGAGTTCATG	0.438													C	58288813	T	C	58288813	3	2	269	1	0	0	0	0	1	0	0	0	17060	1609	56	3	2632	3	USP32	17	58288813	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1255735	58288813	22906397	695	133343											
SLC39A11	201266	broad.mit.edu	37	chr17	70643739	70643739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctagcccaggccaacgTccagtgacatcatcactaca	7	16	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:70643739T>C	uc002jjb.2	-	10	1128	c.1013A>G	c.(1012-1014)GAC>GGC	p.D338G	SLC39A11_uc002jja.2_Missense_Mutation_p.D331G	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	338	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						CAGGCCAACGTCCAGTGACAT	0.512													C	70643739	T	C	70643739	3	2	269	1	0	0	0	0	1	0	0	0	14614	1667	58	3	19	3	SLC39A11	17	70643739	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12354926	70643739	10551471	696	133344											
TTYH2	94015	broad.mit.edu	37	chr17	72218654	72218654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggggctggtggccgccGtctgcctgggcctgaacctc	15	15	1	1	rs142378984		TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:72218654G>A	uc002jkc.2	+	2	191	c.160G>A	c.(160-162)GTC>ATC	p.V54I	TTYH2_uc010wqw.1_Missense_Mutation_p.V33I	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	54	Helical; Name=1; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						GGTGGCCGCCGTCTGCCTGGG	0.637													A	72218654	G	A	72218654	3	1	269	1	0	0	0	0	1	0	0	0	16737	1145	40	1	166	1	TTYH2	17	72218654	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1574915	72218654	8976556	697	133345											
CD300C	10871	broad.mit.edu	37	chr17	72539080	72539080	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttcgtgggaggaccTgaggtgcccatggagctctg	17	10	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:72539080T>G	uc002jky.1	-	3	808	c.447A>C	c.(445-447)TCA>TCC	p.S149S		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	149	Pro-rich.|Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						TGGGAGGACCTGAGGTGCCCA	0.632													G	72539080	T	G	72539080	2	3	269	1	0	0	0	0	0	0	0	1	2997	1567	55	5		5	CD300C	17	72539080	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	320426	72539080	8656130	698	133346											
C17orf77	146723	broad.mit.edu	37	chr17	72588570	72588570	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaaggtgtgcccaaacTtttgtgcatgtggaaaagaa	12	6	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:72588570T>G	uc002jla.1	+	3	747	c.385T>G	c.(385-387)TTT>GTT	p.F129V	CD300LD_uc002jkz.2_5'Flank	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	129	Cys-rich.					extracellular region					0						GTGCCCAAACTTTTGTGCATG	0.463													G	72588570	T	G	72588570	3	3	269	1	0	0	0	0	1	0	0	0	1882	1609	56	5	387	5	C17orf77	17	72588570	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	49490	72588570	8606640	699	133347											
SAP30BP	29115	broad.mit.edu	37	chr17	73699940	73699940	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctactatgaggcattagGtagcctttcgtccctcctcc	7	15	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:73699940G>A	uc002jpe.2	+	8	655	c.601_splice	c.e8+1	p.A201_splice	SAP30BP_uc002jpc.1_Splice_Site|SAP30BP_uc010wsf.1_Intron|SAP30BP_uc010wsg.1_Splice_Site|SAP30BP_uc002jpf.2_Splice_Site_p.A185_splice	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein						apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	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)			GAGGCATTAGGTAGCCTTTCG	0.423													A	73699940	G	A	73699940	5	1	269	1	0	0	0	0	0	0	1	0	13834	1275	44	4	632	4	SAP30BP	17	73699940	Splice_Site	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1111370	73699940	7495270	700	133348											
UNK	85451	broad.mit.edu	37	chr17	73805920	73805920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatcggccctacacctgcTtccactggcacttcgtgaac	8	16	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:73805920T>C	uc002jpm.2	+	3	412	c.412T>C	c.(412-414)TTC>CTC	p.F138L		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	62							nucleic acid binding|zinc ion binding				0			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)			CTACACCTGCTTCCACTGGCA	0.602													C	73805920	T	C	73805920	3	2	269	1	0	0	0	0	1	0	0	0	16997	1609	56	3	422	3	UNK	17	73805920	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	105980	73805920	7389290	701	133349											
UBE2O	63893	broad.mit.edu	37	chr17	74391894	74391894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcactgtgctgaagaacTtcttggcttctggaggctgg	13	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:74391894T>C	uc002jrm.3	-	15	2923	c.2858A>G	c.(2857-2859)AAG>AGG	p.K953R	UBE2O_uc002jrn.3_3'UTR|UBE2O_uc002jrl.3_Missense_Mutation_p.K557R	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	953							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						GCTGAAGAACTTCTTGGCTTC	0.502													C	74391894	T	C	74391894	3	2	269	1	0	0	0	0	1	0	0	0	16865	1609	56	3	1036	3	UBE2O	17	74391894	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	585974	74391894	6803316	702	133350											
CCDC40	55036	broad.mit.edu	37	chr17	78055422	78055422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcatgaaggaggaagaaaAgaacgagaagctggcgagca	14	6	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:78055422A>G	uc010dht.2	+	11	1667	c.1640A>G	c.(1639-1641)AAG>AGG	p.K547R	CCDC40_uc002jxm.3_Missense_Mutation_p.K330R|CCDC40_uc002jxn.3_5'UTR	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	547	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGAAGAAAAGAACGAGAAG	0.557													G	78055422	A	G	78055422	3	3	269	1	0	0	0	0	1	0	0	0	2812	72	3	3	1682	3	CCDC40	17	78055422	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3663528	78055422	3139788	703	133351											
TSPAN10	83882	broad.mit.edu	37	chr17	79612482	79612483	+	Missense_Mutation	DNP	GG	GG	AT													ctggtgcttgaggccgtggcGggggccctggtggtggccct							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:79612482_79612483GG>AT	uc010die.2	+	2	591_592	c.501_502GG>AT	c.(499-504)GCGGGG>GCATGG	p.G168W	TSPAN10_uc002kaw.1_Missense_Mutation_p.G168W|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	168	Helical; (Potential).					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)			AGGCCGTGGCGGGGGCCCTGGT	0.673													AT	79612483	GG	AT	79612482	3	1	269	1	0	0	0	0	1	0	0	0	16631	1103	39	1	507	1	TSPAN10	17	79612482	Missense_Mutation	DNP	GG	TCGA-HU-A4GH-01A-11D-A24D-08	1557060	79612482	1582728	704	133352											
P4HB	5034	broad.mit.edu	37	chr17	79804384	79804384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccgattcgggcttgtacTtggtcatctcctcctccagg	9	15	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:79804384T>C	uc002kbn.1	-	7	1174	c.977A>G	c.(976-978)AAG>AGG	p.K326R	P4HB_uc002kbl.1_Missense_Mutation_p.K3R|P4HB_uc002kbm.1_Missense_Mutation_p.K3R	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	326					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				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GGGCTTGTACTTGGTCATCTC	0.617													C	79804384	T	C	79804384	3	2	269	1	0	0	0	0	1	0	0	0	11359	1609	56	3	569	3	P4HB	17	79804384	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	191902	79804384	1390826	705	133353											
RAC3	5881	broad.mit.edu	37	chr17	79991331	79991331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggtacccggaggtgCggcaccactgcccccacacg	13	16	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr17:79991331C>T	uc002kdf.2	+	5	410	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	102					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				0	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)			CCCGGAGGTGCGGCACCACTG	0.667													T	79991331	C	T	79991331	3	4	269	1	0	0	0	0	1	0	0	0	12976	759	27	1	322	1	RAC3	17	79991331	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	186947	79991331	1203879	706	133354											
SMCHD1	23347	broad.mit.edu	37	chr18	2718418	2718418	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actaccatctaaagcaattaAgttttctgttaaaggtaagc	6	7	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:2718418A>C	uc002klm.3	+	19	2633	c.2444A>C	c.(2443-2445)AAG>ACG	p.K815T	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	815					chromosome organization		ATP binding				0						AAAGCAATTAAGTTTTCTGTT	0.308													C	2718418	A	C	2718418	3	2	269	1	0	0	0	0	1	0	0	0	14788	72	3	5	2518	5	SMCHD1	18	2718418	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08		2718418	75358830	707	133355											
EMILIN2	84034	broad.mit.edu	37	chr18	2892320	2892320	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaggaggggctcaacaAgcatgtcagcagcctgtgga	14	9	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:2892320A>C	uc002kln.2	+	4	2354	c.2195A>C	c.(2194-2196)AAG>ACG	p.K732T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	732					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		GGGCTCAACAAGCATGTCAGC	0.517													C	2892320	A	C	2892320	3	2	269	1	0	0	0	0	1	0	0	0	5094	72	3	5	2209	5	EMILIN2	18	2892320	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	173902	2892320	75184928	708	133356											
CEP192	55125	broad.mit.edu	37	chr18	13116434	13116434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtgtacaggttccggCcgactagtgtgggggaatca	16	7	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:13116434C>T	uc010xac.1	+	43	7428	c.7348C>T	c.(7348-7350)CCG>TCG	p.P2450S	CEP192_uc010xad.1_Missense_Mutation_p.P1975S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.P873S|CEP192_uc002krw.2_Missense_Mutation_p.P600S|CEP192_uc002krx.2_Missense_Mutation_p.P454S|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2450										ovary(4)|pancreas(1)	5						CAGGTTCCGGCCGACTAGTGT	0.423													T	13116434	C	T	13116434	3	4	269	1	0	0	0	0	1	0	0	0	3251	739	26	2	7514	2	CEP192	18	13116434	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	10224114	13116434	64960814	709	133357											
C18orf8	29919	broad.mit.edu	37	chr18	21099083	21099083	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagttaaataggacgggaaAgtttgccctgaacgtggtgg	15	5	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:21099083A>T	uc010xax.1	+	9	915	c.794A>T	c.(793-795)AAG>ATG	p.K265M	C18orf8_uc010xau.1_Missense_Mutation_p.K108M|C18orf8_uc010xav.1_Missense_Mutation_p.K217M|C18orf8_uc010xaw.1_Missense_Mutation_p.K108M|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	265										ovary(1)	1	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)					AGGACGGGAAAGTTTGCCCTG	0.418													T	21099083	A	T	21099083	3	4	269	1	0	0	0	0	1	0	0	0	1907	72	3	5	828	5	C18orf8	18	21099083	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7982649	21099083	56978165	710	133358											
LAMA3	3909	broad.mit.edu	37	chr18	21343437	21343437	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcggcagcaggcaagcTtgaatacccagggcatctat	12	10	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:21343437T>G	uc002kuq.2	+	8	1218	c.1132T>G	c.(1132-1134)TTG>GTG	p.L378V	LAMA3_uc010dlv.1_Missense_Mutation_p.L378V|LAMA3_uc002kur.2_Missense_Mutation_p.L378V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	378	Domain V.|Laminin EGF-like 2.				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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	GCAGGCAAGCTTGAATACCCA	0.458													G	21343437	T	G	21343437	3	3	269	1	0	0	0	0	1	0	0	0	8607	1606	56	5	1162	5	LAMA3	18	21343437	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	244354	21343437	56733811	711	133359											
DTNA	1837	broad.mit.edu	37	chr18	32443968	32443968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagagaatgtctgctcTccaggagagccggagagagc	15	9	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:32443968T>C	uc010dmn.1	+	16	1605	c.1604T>C	c.(1603-1605)CTC>CCC	p.L535P	DTNA_uc010xbx.1_Missense_Mutation_p.L285P|DTNA_uc002kxv.3_Missense_Mutation_p.L478P|DTNA_uc002kxw.2_Missense_Mutation_p.L478P|DTNA_uc010dmj.2_Missense_Mutation_p.L475P|DTNA_uc002kxz.2_Missense_Mutation_p.L475P|DTNA_uc002kxy.2_Missense_Mutation_p.L475P|DTNA_uc010dml.2_Missense_Mutation_p.L475P|DTNA_uc002kyb.3_Missense_Mutation_p.L532P|DTNA_uc010dmm.2_Missense_Mutation_p.L535P|DTNA_uc010xby.1_Missense_Mutation_p.L225P|DTNA_uc010dmo.2_Missense_Mutation_p.S156P|DTNA_uc002kyd.3_Missense_Mutation_p.L157P|DTNA_uc010xbz.1_Missense_Mutation_p.L244P|DTNA_uc010xca.1_Missense_Mutation_p.L187P|DTNA_uc002kye.2_Missense_Mutation_p.L183P	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	535	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						ATGTCTGCTCTCCAGGAGAGC	0.468													C	32443968	T	C	32443968	3	2	269	1	0	0	0	0	1	0	0	0	4788	1551	54	3	1701	3	DTNA	18	32443968	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	11100531	32443968	45633280	712	133360											
MAPRE2	10982	broad.mit.edu	37	chr18	32706939	32706939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatcaagtccagcagctaAaccaggatccacaccttctc	5	14	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:32706939A>C	uc002kyg.2	+	5	818	c.638A>C	c.(637-639)AAA>ACA	p.K213T	MAPRE2_uc010xcb.1_Missense_Mutation_p.K170T|MAPRE2_uc010xcc.1_Missense_Mutation_p.K201T|MAPRE2_uc002kyf.2_Missense_Mutation_p.K213T|MAPRE2_uc002kyh.2_Missense_Mutation_p.K160T|MAPRE2_uc010xcd.1_Missense_Mutation_p.K170T	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	213	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						CCAGCAGCTAAACCAGGATCC	0.403													C	32706939	A	C	32706939	3	2	269	1	0	0	0	0	1	0	0	0	9295	14	1	5	750	5	MAPRE2	18	32706939	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	262971	32706939	45370309	713	133361											
MAPRE2	10982	broad.mit.edu	37	chr18	32712012	32712012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtacattcattaaaacTtgcccttgaaggcgtggaaa	10	8	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:32712012T>G	uc002kyg.2	+	6	947	c.767T>G	c.(766-768)CTT>CGT	p.L256R	MAPRE2_uc010xcb.1_Missense_Mutation_p.L213R|MAPRE2_uc010xcc.1_Missense_Mutation_p.L244R|MAPRE2_uc002kyh.2_Missense_Mutation_p.L203R|MAPRE2_uc010xcd.1_Missense_Mutation_p.L213R	NM_014268	NP_055083	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family,	256	DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			ovary(1)	1						TCATTAAAACTTGCCCTTGAA	0.423													G	32712012	T	G	32712012	3	3	269	1	0	0	0	0	1	0	0	0	9295	1609	56	5	883	5	MAPRE2	18	32712012	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5073	32712012	45365236	714	133362											
SYT4	6860	broad.mit.edu	37	chr18	40854220	40854220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtaaatatcaactccCttaagcacatgcacaaactt	5	11	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:40854220C>T	uc002law.2	-	2	543	c.174G>A	c.(172-174)AAG>AAA	p.K58K	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.K40K|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	58	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						TATCAACTCCCTTAAGCACAT	0.393													T	40854220	C	T	40854220	2	4	269	1	0	0	0	0	0	0	0	1	15473	680	24	4		4	SYT4	18	40854220	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	8142208	40854220	37223028	715	133363											
SETBP1	26040	broad.mit.edu	37	chr18	42531398	42531398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaaagctcccccagagaCcagccctggggcagcagcca	12	16	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:42531398C>A	uc010dni.2	+	4	2389	c.2093C>A	c.(2092-2094)ACC>AAC	p.T698N		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	698						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCCCAGAGACCAGCCCTGGG	0.498									Schinzel-Giedion_syndrome				A	42531398	C	A	42531398	3	1	269	1	0	0	0	0	1	0	0	0	14129	507	18	5	2296	5	SETBP1	18	42531398	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	1677178	42531398	35545850	716	133364											
SETBP1	26040	broad.mit.edu	37	chr18	42618511	42618511	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catagtaagaacgaaggctcAgtgcccaccatgatgaccag	10	11	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:42618511A>C	uc010dni.2	+	5	4358	c.4062A>C	c.(4060-4062)TCA>TCC	p.S1354S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1354						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACGAAGGCTCAGTGCCCACCA	0.488									Schinzel-Giedion_syndrome				C	42618511	A	C	42618511	2	2	269	1	0	0	0	0	0	0	0	1	14129	175	7	5		5	SETBP1	18	42618511	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	87113	42618511	35458737	717	133365											
CCDC11	220136	broad.mit.edu	37	chr18	47769287	47769287	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacacttttcttgaacttgaAgttttcttgtacacatgacc	5	9	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:47769287A>C	uc002lee.2	-	6	1287	c.1196T>G	c.(1195-1197)CTT>CGT	p.L399R		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	399	Potential.									ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTGAACTTGAAGTTTTCTTGT	0.373													C	47769287	A	C	47769287	3	2	269	1	0	0	0	0	1	0	0	0	2746	72	3	5	360	5	CCDC11	18	47769287	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5150776	47769287	30307961	718	133366											
ME2	4200	broad.mit.edu	37	chr18	48443784	48443784	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtctatggaatgggaaTtccagtaggaaaactttgtt	13	4	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:48443784T>G	uc002ley.2	+	6	792	c.536T>G	c.(535-537)ATT>AGT	p.I179S	ME2_uc010dpd.2_Missense_Mutation_p.I179S	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	179					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		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)	GGAATGGGAATTCCAGTAGGA	0.408													G	48443784	T	G	48443784	3	3	269	1	0	0	0	0	1	0	0	0	9418	1493	52	5	554	5	ME2	18	48443784	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	674497	48443784	29633464	719	133367											
SERPINB12	89777	broad.mit.edu	37	chr18	61234015	61234015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaacgagggctgatcTtactggaatctctccaagtc	10	9	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:61234015T>G	uc010xen.1	+	7	989	c.989T>G	c.(988-990)CTT>CGT	p.L330R	SERPINB12_uc010xeo.1_Missense_Mutation_p.L350R	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	330					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0						AGGGCTGATCTTACTGGAATC	0.458													G	61234015	T	G	61234015	3	3	269	1	0	0	0	0	1	0	0	0	14099	1609	56	5	1015	5	SERPINB12	18	61234015	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	12790231	61234015	16843233	720	133368											
FBXO15	201456	broad.mit.edu	37	chr18	71797672	71797672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcctctttggtcttaActggaaggcctgtgtaaggg	15	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:71797672A>C	uc002lle.2	-	4	662	c.326T>G	c.(325-327)GTT>GGT	p.V109G	FBXO15_uc002llf.2_Missense_Mutation_p.V185G	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	109										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTTGGTCTTAACTGGAAGGCC	0.428													C	71797672	A	C	71797672	3	2	269	1	0	0	0	0	1	0	0	0	5728	43	2	5	1006	5	FBXO15	18	71797672	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	10563657	71797672	6279576	721	133369											
SALL3	27164	broad.mit.edu	37	chr18	76753954	76753954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcggggggctgctagacTcgatgcaaacgtcggaaacc	14	11	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr18:76753954T>C	uc002lmt.2	+	2	1963	c.1963T>C	c.(1963-1965)TCG>CCG	p.S655P	SALL3_uc010dra.2_Missense_Mutation_p.S262P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		GCTGCTAGACTCGATGCAAAC	0.642													C	76753954	T	C	76753954	3	2	269	1	0	0	0	0	1	0	0	0	13812	1551	54	3	1969	3	SALL3	18	76753954	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4956282	76753954	1323294	722	133370											
TICAM1	148022	broad.mit.edu	37	chr19	4818198	4818198	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggccaccgcatcggccttCaatgcctctagagagatcct	10	15	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:4818198C>T	uc002mbi.2	-	2	443	c.192G>A	c.(190-192)TTG>TTA	p.L64L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	64					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATCGGCCTTCAATGCCTCTA	0.677													T	4818198	C	T	4818198	2	4	269	1	0	0	0	0	0	0	0	1	15889	825	29	4		4	TICAM1	19	4818198	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08		4818198	54310785	723	133371											
EMR1	2015	broad.mit.edu	37	chr19	6921819	6921819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtgatcctggaagcTtctgagacatataccatctg	11	9	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:6921819T>C	uc002mfw.2	+	14	1754	c.1716T>C	c.(1714-1716)GCT>GCC	p.A572A	EMR1_uc010dvc.2_Silent_p.A572A|EMR1_uc010dvb.2_Silent_p.A520A|EMR1_uc010xji.1_Silent_p.A431A|EMR1_uc010xjj.1_Silent_p.A395A	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	572	GPS.|Extracellular (Potential).|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TCCTGGAAGCTTCTGAGACAT	0.488													C	6921819	T	C	6921819	2	2	269	1	0	0	0	0	0	0	0	1	5104	1596	56	3		3	EMR1	19	6921819	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2103621	6921819	52207164	724	133372											
LRRC8E	80131	broad.mit.edu	37	chr19	7963820	7963820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccagtttctggttcaAgttccctggcaccagctcca	8	15	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:7963820A>G	uc002mir.2	+	3	514	c.413A>G	c.(412-414)AAG>AGG	p.K138R		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	138						integral to membrane				lung(1)|pancreas(1)	2						TTCTGGTTCAAGTTCCCTGGC	0.532													G	7963820	A	G	7963820	3	3	269	1	0	0	0	0	1	0	0	0	9025	72	3	3	419	3	LRRC8E	19	7963820	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1042001	7963820	51165163	725	133373											
MUC16	94025	broad.mit.edu	37	chr19	8999559	8999559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctgccccatccttcTtgggcctggggagggcaaga	16	11	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:8999559T>G	uc002mkp.2	-	56	40820	c.40616A>C	c.(40615-40617)AAG>ACG	p.K13539T	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K356T|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCCATCCTTCTTGGGCCTGGG	0.592													G	8999559	T	G	8999559	3	3	269	1	0	0	0	0	1	0	0	0	9973	1609	56	5	3023	5	MUC16	19	8999559	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1035739	8999559	50129424	726	133374											
MUC16	94025	broad.mit.edu	37	chr19	9070034	9070034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtagtagtgggcacttcTgaaaggacagtgctggtctc	14	7	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9070034T>C	uc002mkp.2	-	3	17616	c.17412A>G	c.(17410-17412)TCA>TCG	p.S5804S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5806	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGGCACTTCTGAAAGGACAG	0.473													C	9070034	T	C	9070034	2	2	269	1	0	0	0	0	0	0	0	1	9973	1567	55	3		3	MUC16	19	9070034	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	70475	9070034	50058949	727	133375											
MUC16	94025	broad.mit.edu	37	chr19	9074873	9074873	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctcagacaagaaaacTgaggtcacaggtggagtaga	14	6	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9074873T>G	uc002mkp.2	-	3	12777	c.12573A>C	c.(12571-12573)TCA>TCC	p.S4191S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4193	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACAAGAAAACTGAGGTCACAG	0.502													G	9074873	T	G	9074873	2	3	269	1	0	0	0	0	0	0	0	1	9973	1567	55	5		5	MUC16	19	9074873	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4839	9074873	50054110	728	133376											
MUC16	94025	broad.mit.edu	37	chr19	9084689	9084689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgaagaagctatggaggTgttgatcagatcagaagaag	14	3	2	6			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9084689T>C	uc002mkp.2	-	1	7330	c.7126A>G	c.(7126-7128)ACC>GCC	p.T2376A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2376	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCTATGGAGGTGTTGATCAGA	0.443													C	9084689	T	C	9084689	3	2	269	1	0	0	0	0	1	0	0	0	9973	1696	59	3	36733	3	MUC16	19	9084689	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	9816	9084689	50044294	729	133377											
MUC16	94025	broad.mit.edu	37	chr19	9085876	9085876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgagtggactgttcaAttgtgcctgtactggtccat	13	7	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9085876A>C	uc002mkp.2	-	1	6143	c.5939T>G	c.(5938-5940)ATT>AGT	p.I1980S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1980	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGACTGTTCAATTGTGCCTGT	0.463													C	9085876	A	C	9085876	3	2	269	1	0	0	0	0	1	0	0	0	9973	101	4	5	37920	5	MUC16	19	9085876	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1187	9085876	50043107	730	133378											
OR7E24	26648	broad.mit.edu	37	chr19	9362093	9362093	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctttttttgtcctttTtgcatgtatggatgacatgc	9	6	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:9362093T>G	uc002mlb.1	+	1	374	c.374T>G	c.(373-375)TTT>TGT	p.F125C		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	125	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTTGTCCTTTTTGCATGTATG	0.507													G	9362093	T	G	9362093	3	3	269	1	0	0	0	0	1	0	0	0	11221	1841	64	5	376	5	OR7E24	19	9362093	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	276217	9362093	49766890	731	133379											
AP1M2	10053	broad.mit.edu	37	chr19	10685617	10685617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtaggggatctcaaacTtgaccccgatggggggccgg	16	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:10685617T>C	uc002mpc.2	-	10	1220	c.1136A>G	c.(1135-1137)AAG>AGG	p.K379R	AP1M2_uc002mpd.2_Missense_Mutation_p.K381R	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	379	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GATCTCAAACTTGACCCCGAT	0.607													C	10685617	T	C	10685617	3	2	269	1	0	0	0	0	1	0	0	0	735	1609	56	3	147	3	AP1M2	19	10685617	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1323524	10685617	48443366	732	133380											
CCDC159	126075	broad.mit.edu	37	chr19	11460642	11460642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgatgattcccgactcCcagaagctcctgcgatgtga	10	11	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:11460642C>T	uc010xlw.1	+	4	412	c.333C>T	c.(331-333)TCC>TCT	p.S111S	CCDC159_uc010xlr.1_Silent_p.S28S|CCDC159_uc010xls.1_Silent_p.S28S|CCDC159_uc010xlt.1_Silent_p.S28S|CCDC159_uc010xlu.1_Silent_p.S27S|CCDC159_uc010xlv.1_Silent_p.S27S	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	coiled-coil domain-containing-like	143										ovary(1)	1						TTCCCGACTCCCAGAAGCTCC	0.592													T	11460642	C	T	11460642	2	4	269	1	0	0	0	0	0	0	0	1	2791	610	22	4		4	CCDC159	19	11460642	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	775025	11460642	47668341	733	133381											
ZNF491	126069	broad.mit.edu	37	chr19	11917360	11917360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggaaatcattcaatTtttccagttcctttcgcaga	8	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:11917360T>G	uc002mso.1	+	3	877	c.592T>G	c.(592-594)TTT>GTT	p.F198V		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	198	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATCATTCAATTTTTCCAGTTC	0.433													G	11917360	T	G	11917360	3	3	269	1	0	0	0	0	1	0	0	0	17939	1841	64	5	594	5	ZNF491	19	11917360	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	456718	11917360	47211623	734	133382											
ZNF491	126069	broad.mit.edu	37	chr19	11917993	11917993	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaattcacactggagagAaaccttaccaatgtaaggaa	8	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:11917993A>C	uc002mso.1	+	3	1510	c.1225A>C	c.(1225-1227)AAA>CAA	p.K409Q		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CACTGGAGAGAAACCTTACCA	0.368													C	11917993	A	C	11917993	3	2	269	1	0	0	0	0	1	0	0	0	17939	247	9	5	1227	5	ZNF491	19	11917993	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	633	11917993	47210990	735	133383											
MAST1	22983	broad.mit.edu	37	chr19	12979894	12979894	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagtggacccacatggaAgttcaccccttgctagtccc	9	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:12979894A>C	uc002mvm.2	+	22	2916	c.2788A>C	c.(2788-2790)AGT>CGT	p.S930R		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	930					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCCACATGGAAGTTCACCCCT	0.552													C	12979894	A	C	12979894	3	2	269	1	0	0	0	0	1	0	0	0	9324	72	3	5	2874	5	MAST1	19	12979894	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1061901	12979894	46149089	736	133384											
SYCE2	256126	broad.mit.edu	37	chr19	13015434	13015434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgagtccagagaggagaAgtagagtcccgacttccctt	12	10	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:13015434A>C	uc002mvr.2	-	3	193	c.178T>G	c.(178-180)TTC>GTC	p.F60V		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	60					cell division	central element					0						AGAGAGGAGAAGTAGAGTCCC	0.537													C	13015434	A	C	13015434	3	2	269	1	0	0	0	0	1	0	0	0	15426	72	3	5	494	5	SYCE2	19	13015434	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	35540	13015434	46113549	737	133385											
ZNF461	92283	broad.mit.edu	37	chr19	37130036	37130036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccagaatgaattttcTgatggtgtgagaagcttgag	12	5	2	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:37130036T>C	uc002oem.2	-	6	1439	c.1211A>G	c.(1210-1212)CAG>CGG	p.Q404R	ZNF461_uc002oen.2_Missense_Mutation_p.Q373R|ZNF461_uc010xtj.1_Missense_Mutation_p.Q381R	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	404	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGAATTTTCTGATGGTGTGA	0.408													C	37130036	T	C	37130036	3	2	269	1	0	0	0	0	1	0	0	0	17922	1580	55	3	484	3	ZNF461	19	37130036	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	24114602	37130036	21998947	738	133386											
ZNF781	163115	broad.mit.edu	37	chr19	38160980	38160980	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgattagcatgacttatttGatattgagttagttgaaagt	9	3	0	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:38160980G>C	uc002ogy.2	-	4	812	c.70C>G	c.(70-72)CAA>GAA	p.Q24E	ZNF781_uc002ogz.2_Missense_Mutation_p.Q19E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGACTTATTTGATATTGAGTT	0.353													C	38160980	G	C	38160980	3	2	269	1	0	0	0	0	1	0	0	0	18151	1299	45	5	917	5	ZNF781	19	38160980	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1030944	38160980	20968003	739	133387											
TMEM145	284339	broad.mit.edu	37	chr19	42822014	42822014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctttttatgtgcccttcTttgctgcctataccctctgg	7	13	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:42822014T>C	uc002otk.1	+	12	1106	c.1054T>C	c.(1054-1056)TTT>CTT	p.F352L		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	352	Helical; (Potential).					integral to membrane					0		Prostate(69;0.00682)				TGTGCCCTTCTTTGCTGCCTA	0.587													C	42822014	T	C	42822014	3	2	269	1	0	0	0	0	1	0	0	0	16056	1609	56	3	1100	3	TMEM145	19	42822014	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4661034	42822014	16306969	740	133388											
PSG1	5669	broad.mit.edu	37	chr19	43376021	43376021	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgacacccaatagaaAgagggtcctgttggtttcgg	12	8	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:43376021A>C	uc002ovb.2	-	3	745	c.607T>G	c.(607-609)TTT>GTT	p.F203V	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.F203V|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.F203V|PSG1_uc010eio.1_Missense_Mutation_p.F203V|PSG1_uc002oux.1_Missense_Mutation_p.F132V|PSG1_uc002ouy.1_Missense_Mutation_p.F203V|PSG1_uc002ouz.1_Missense_Mutation_p.F203V|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.F203V	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	203	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				CCCAATAGAAAGAGGGTCCTG	0.522													C	43376021	A	C	43376021	3	2	269	1	0	0	0	0	1	0	0	0	12653	72	3	5	721	5	PSG1	19	43376021	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	554007	43376021	15752962	741	133389											
ZNF45	7596	broad.mit.edu	37	chr19	44418060	44418060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggctggagaactgacTgaaggccttaccacacctct	10	12	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:44418060T>C	uc002oxu.1	-	4	1627	c.1528A>G	c.(1528-1530)AGT>GGT	p.S510G	ZNF45_uc002oxw.1_Missense_Mutation_p.S510G|ZNF45_uc002oxv.1_Missense_Mutation_p.S510G	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	zinc finger protein 45	510	C2H2-type 13.				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GAGAACTGACTGAAGGCCTTA	0.493													C	44418060	T	C	44418060	3	2	269	1	0	0	0	0	1	0	0	0	17918	1580	55	3	524	3	ZNF45	19	44418060	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1042039	44418060	14710923	742	133390											
ZNF235	9310	broad.mit.edu	37	chr19	44792778	44792778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctatcattgaaggcTtcttcacattcattaccctg	7	11	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:44792778T>G	uc002oza.3	-	5	913	c.810A>C	c.(808-810)GAA>GAC	p.E270D	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.E266D|ZNF235_uc010xwx.1_Missense_Mutation_p.E184D	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	270	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CATTGAAGGCTTCTTCACATT	0.428													G	44792778	T	G	44792778	3	3	269	1	0	0	0	0	1	0	0	0	17785	1606	56	5	1410	5	ZNF235	19	44792778	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	374718	44792778	14336205	743	133391											
SNRPD2	6633	broad.mit.edu	37	chr19	46190914	46190914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgactggcttggacttcTtcttgcccttgccactcttg	9	12	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46190914T>C	uc002pcw.2	-	3	551	c.254A>G	c.(253-255)AAG>AGG	p.K85R	SNRPD2_uc002pcv.2_Missense_Mutation_p.K75R	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	85					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTTGGACTTCTTCTTGCCCTT	0.587													C	46190914	T	C	46190914	3	2	269	1	0	0	0	0	1	0	0	0	14865	1609	56	3	106	3	SNRPD2	19	46190914	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1398136	46190914	12938069	744	133392											
SYMPK	8189	broad.mit.edu	37	chr19	46355623	46355623	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcacttcgattgacttgtcTgcttggaatgcgatgatctc	10	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46355623T>G	uc002pdn.2	-	5	491	c.246A>C	c.(244-246)GCA>GCC	p.A82A	SYMPK_uc002pdo.1_Silent_p.A82A|SYMPK_uc002pdp.1_Silent_p.A82A|SYMPK_uc002pdq.1_Silent_p.A82A	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	82	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTGACTTGTCTGCTTGGAATG	0.537													G	46355623	T	G	46355623	2	3	269	1	0	0	0	0	0	0	0	1	15436	1567	55	5		5	SYMPK	19	46355623	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	164709	46355623	12773360	745	133393											
CCDC61	729440	broad.mit.edu	37	chr19	46506709	46506709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacaagacagggaacTtcaaacagttcaacatcttc	6	11	4	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46506709T>C	uc002pdw.2	+	4	352	c.352T>C	c.(352-354)TTC>CTC	p.F118L		NM_001080402	NP_001073871			coiled-coil domain containing 61											ovary(1)	1		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GACAGGGAACTTCAAACAGTT	0.562													C	46506709	T	C	46506709	3	2	269	1	0	0	0	0	1	0	0	0	2832	1609	56	3	366	3	CCDC61	19	46506709	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	151086	46506709	12622274	746	133394											
PNMAL2	57469	broad.mit.edu	37	chr19	46998655	46998655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctccgggatgccggtgAccagcagggccctgtgcgcg	17	15	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:46998655A>G	uc002pes.2	-	1	515	c.68T>C	c.(67-69)GTC>GCC	p.V23A	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	23										central_nervous_system(1)	1		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)		gatgccggtgaccagcagggc	0.104													G	46998655	A	G	46998655	3	3	269	1	0	0	0	0	1	0	0	0	12158	275	10	3	1843	3	PNMAL2	19	46998655	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	491946	46998655	12130328	747	133395											
CCDC9	26093	broad.mit.edu	37	chr19	47769965	47769965	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagcaggagagggagaAgatcgaccaggagcggctgc	18	8	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:47769965A>T	uc010xym.1	+	8	1025	c.818A>T	c.(817-819)AAG>ATG	p.K273M		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	273											0		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)		GAGAGGGAGAAGATCGACCAG	0.672													T	47769965	A	T	47769965	3	4	269	1	0	0	0	0	1	0	0	0	2867	72	3	5	844	5	CCDC9	19	47769965	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	771310	47769965	11359018	748	133396											
CCDC114	93233	broad.mit.edu	37	chr19	48806918	48806918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccactcactctccagatacTtctgcaccaacaggtcaggg	7	16	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:48806918T>G	uc002pir.2	-	8	1549	c.866A>C	c.(865-867)AAG>ACG	p.K289T	CCDC114_uc002piq.2_Missense_Mutation_p.K98T|CCDC114_uc002pio.2_Missense_Mutation_p.K326T|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.K326T|CCDC114_uc002piu.1_Missense_Mutation_p.K326T	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	289										ovary(1)	1		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)		CTCCAGATACTTCTGCACCAA	0.647													G	48806918	T	G	48806918	3	3	269	1	0	0	0	0	1	0	0	0	2751	1609	56	5	1174	5	CCDC114	19	48806918	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1036953	48806918	10322065	749	133397											
KCNA7	3743	broad.mit.edu	37	chr19	49573431	49573431	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctccagtgggccacaAggctgcatgtccacatggct	11	14	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:49573431A>T	uc002pmg.2	-	2	1616	c.1260T>A	c.(1258-1260)CCT>CCA	p.P420P		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	420						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		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)		GTGGGCCACAAGGCTGCATGT	0.607													T	49573431	A	T	49573431	2	4	269	1	0	0	0	0	0	0	0	1	8008	59	3	5		5	KCNA7	19	49573431	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	766513	49573431	9555552	750	133398											
ZNF473	25888	broad.mit.edu	37	chr19	50549984	50549984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagccttatgtttgtcagGaatgcgggaaagccttcacc	10	9	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:50549984G>A	uc002prn.2	+	5	2521	c.2284G>A	c.(2284-2286)GAA>AAA	p.E762K	ZNF473_uc002prm.2_Missense_Mutation_p.E762K|ZNF473_uc010ybo.1_Missense_Mutation_p.E750K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	762	C2H2-type 17.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTTGTCAGGAATGCGGGAA	0.522											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50549984	G	A	50549984	3	1	269	1	0	0	0	0	1	0	0	0	17928	1175	41	4	2298	4	ZNF473	19	50549984	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	976553	50549984	8578999	751	133399											
SYT3	84258	broad.mit.edu	37	chr19	51133141	51133141	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggaggtccagggcctgcAggatcctcaccaccagctgg	14	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:51133141A>G	uc002pst.2	-	3	1596	c.962T>C	c.(961-963)CTG>CCG	p.L321P	SYT3_uc002psv.2_Missense_Mutation_p.L321P|SYT3_uc010ycd.1_Missense_Mutation_p.L321P	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	321	C2 1.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGGCCTGCAGGATCCTCAC	0.617													G	51133141	A	G	51133141	3	3	269	1	0	0	0	0	1	0	0	0	15472	188	7	3	834	3	SYT3	19	51133141	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	583157	51133141	7995842	752	133400											
C19orf75	284369	broad.mit.edu	37	chr19	51768881	51768881	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaaacggaacccatgcTttgagcatcctactgatgtc	7	12	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:51768881T>G	uc002pwb.1	+	3	663	c.282T>G	c.(280-282)GCT>GCG	p.A94A	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	94						integral to membrane				ovary(1)|pancreas(1)	2						GAACCCATGCTTTGAGCATCC	0.552													G	51768881	T	G	51768881	2	3	269	1	0	0	0	0	0	0	0	1	1949	1596	56	5		5	C19orf75	19	51768881	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	635740	51768881	7360102	753	133401											
SIGLEC6	946	broad.mit.edu	37	chr19	52033695	52033695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctggttcctacctgcGctgtttccttggaagatgct	11	11	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:52033695G>A	uc002pwy.2	-	4	912	c.750C>T	c.(748-750)AGC>AGT	p.S250S	SIGLEC6_uc002pwz.2_Intron|SIGLEC6_uc002pxa.2_Silent_p.S250S|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Silent_p.S250S|SIGLEC6_uc010eoz.1_Silent_p.S228S|SIGLEC6_uc010epb.1_Silent_p.S203S|SIGLEC6_uc010epa.1_Silent_p.S239S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	250	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCCTACCTGCGCTGTTTCCTT	0.567													A	52033695	G	A	52033695	2	1	269	1	0	0	0	0	0	0	0	1	14312	1078	38	1		1	SIGLEC6	19	52033695	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	264814	52033695	7095288	754	133402											
ZNF677	342926	broad.mit.edu	37	chr19	53741699	53741699	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagacttccttgaggtcaAaattgttgatgccatggctt	9	10	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:53741699A>C	uc002qbf.1	-	5	466	c.281T>G	c.(280-282)TTT>TGT	p.F94C	ZNF677_uc002qbg.1_Missense_Mutation_p.F94C	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		CTTGAGGTCAAAATTGTTGAT	0.358													C	53741699	A	C	53741699	3	2	269	1	0	0	0	0	1	0	0	0	18081	14	1	5	1477	5	ZNF677	19	53741699	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1708004	53741699	5387284	755	133403											
ZNF813	126017	broad.mit.edu	37	chr19	53994119	53994119	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggaggtacacatgagAgaaaagtctttccaatgtaa	9	6	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:53994119A>G	uc002qbu.2	+	4	761	c.633A>G	c.(631-633)AGA>AGG	p.R211R	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TACACATGAGAGAAAAGTCTT	0.333													G	53994119	A	G	53994119	2	3	269	1	0	0	0	0	0	0	0	1	18172	301	11	3		3	ZNF813	19	53994119	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	252420	53994119	5134864	756	133404											
OSCAR	126014	broad.mit.edu	37	chr19	54600427	54600427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgagctcccagccatggcTtagggtggtatgaagctggg	16	9	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:54600427T>C	uc002qdd.2	-	4	287	c.170A>G	c.(169-171)AAG>AGG	p.K57R	OSCAR_uc002qcy.2_Missense_Mutation_p.K36R|OSCAR_uc002qcz.2_Missense_Mutation_p.K32R|OSCAR_uc002qda.2_Missense_Mutation_p.K36R|OSCAR_uc002qdb.2_Missense_Mutation_p.K21R|OSCAR_uc010erc.2_5'UTR|OSCAR_uc002qdc.2_Missense_Mutation_p.K46R	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	32	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CAGCCATGGCTTAGGGTGGTA	0.607													C	54600427	T	C	54600427	3	2	269	1	0	0	0	0	1	0	0	0	11285	1609	56	3	902	3	OSCAR	19	54600427	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	606308	54600427	4528556	757	133405											
LILRB5	10990	broad.mit.edu	37	chr19	54761053	54761053	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggactgagagggtgagggTcatggcgtcagctcccactg	16	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:54761053T>G	uc002qex.2	-	1	115	c.4A>C	c.(4-6)ACC>CCC	p.T2P	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.T2P|LILRB5_uc002qey.2_Missense_Mutation_p.T2P|LILRB5_uc002qez.2_Missense_Mutation_p.T2P|LILRB5_uc002qfa.1_5'UTR|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	2					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	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)		AGGGTGAGGGTCATGGCGTCA	0.597													G	54761053	T	G	54761053	3	3	269	1	0	0	0	0	1	0	0	0	8794	1667	58	5	1823	5	LILRB5	19	54761053	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	160626	54761053	4367930	758	133406											
LILRB2	10288	broad.mit.edu	37	chr19	54783401	54783401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttccttacacagaatgaAgccgccaaatgccacctgtg	7	14	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:54783401A>G	uc002qfb.2	-	5	723	c.457T>C	c.(457-459)TTC>CTC	p.F153L	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.F153L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.F153L|LILRB2_uc010yet.1_Missense_Mutation_p.F37L|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	153	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACAGAATGAAGCCGCCAAAT	0.612													G	54783401	A	G	54783401	3	3	269	1	0	0	0	0	1	0	0	0	8791	72	3	3	1379	3	LILRB2	19	54783401	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	22348	54783401	4345582	759	133407											
LILRB1	10859	broad.mit.edu	37	chr19	55143071	55143071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgtctatatagagaaaAgaaaacagcactctggatta	8	7	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:55143071A>C	uc002qgj.2	+	5	531	c.191A>C	c.(190-192)AAG>ACG	p.K64T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.K64T|LILRB1_uc002qgk.2_Missense_Mutation_p.K64T|LILRB1_uc002qgm.2_Missense_Mutation_p.K64T|LILRB1_uc010erq.2_Missense_Mutation_p.K64T|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	64	Ig-like C2-type 1.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		TATAGAGAAAAGAAAACAGCA	0.572										HNSCC(37;0.09)			C	55143071	A	C	55143071	3	2	269	1	0	0	0	0	1	0	0	0	8790	72	3	5	201	5	LILRB1	19	55143071	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	359670	55143071	3985912	760	133408											
KIR3DP1	768329	broad.mit.edu	37	chr19	55301612	55301612	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggaggctcatgaacTtaggttccctgcagtgccca	15	10	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:55301612T>G	uc010yfi.1	+	5	792	c.791T>G	c.(790-792)CTT>CGT	p.L264R	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Intron	NM_001015070	NP_001015070			killer-cell Ig-like receptor												0				GBM - Glioblastoma multiforme(193;0.0192)		GCTCATGAACTTAGGTTCCCT	0.582													G	55301612	T	G	55301612	3	3	269	1	0	0	0	0	1	0	0	0	8323	1609	56	5	809	5	KIR3DP1	19	55301612	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	158541	55301612	3827371	761	133409											
NLRP7	199713	broad.mit.edu	37	chr19	55451644	55451644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgtggttttccccacGcctgcggggccgtgcagcac	14	16	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:55451644G>A	uc002qih.3	-	4	619	c.543C>T	c.(541-543)GGC>GGT	p.G181G	NLRP7_uc002qig.3_Silent_p.G181G|NLRP7_uc002qii.3_Silent_p.G181G|NLRP7_uc010esk.2_Silent_p.G181G|NLRP7_uc010esl.2_Silent_p.G209G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	181	NACHT.|ATP (Potential).						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		TTTTCCCCACGCCTGCGGGGC	0.562													A	55451644	G	A	55451644	2	1	269	1	0	0	0	0	0	0	0	1	10482	1074	38	1		1	NLRP7	19	55451644	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	150032	55451644	3677339	762	133410											
NLRP8	126205	broad.mit.edu	37	chr19	56467099	56467099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacatgggacttttcTtattcggttttctgaacgag	8	9	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:56467099T>G	uc002qmh.2	+	3	1746	c.1675T>G	c.(1675-1677)TTA>GTA	p.L559V	NLRP8_uc010etg.2_Missense_Mutation_p.L559V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	559						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGGACTTTTCTTATTCGGTTT	0.463													G	56467099	T	G	56467099	3	3	269	1	0	0	0	0	1	0	0	0	10483	1606	56	5	1685	5	NLRP8	19	56467099	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1015455	56467099	2661884	763	133411											
ZNF582	147948	broad.mit.edu	37	chr19	56895607	56895607	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataccttacattggtagggTttctctccagtgtgaattct	8	9	2	1	rs139795329	byFrequency	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:56895607T>C	uc002qmz.1	-	5	1338	c.1179A>G	c.(1177-1179)AAA>AAG	p.K393K	ZNF582_uc002qmy.2_Silent_p.K424K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATTGGTAGGGTTTCTCTCCAG	0.428													C	56895607	T	C	56895607	2	2	269	1	0	0	0	0	0	0	0	1	18011	1722	60	3		3	ZNF582	19	56895607	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	428508	56895607	2233376	764	133412											
ZNF471	57573	broad.mit.edu	37	chr19	57036726	57036726	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatacaggagagaaaccTtatgaatgtgatatatgtgg	10	4	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57036726T>C	uc002qnh.2	+	5	1423	c.1290T>C	c.(1288-1290)CCT>CCC	p.P430P		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAACCTTATGAATGTG	0.408													C	57036726	T	C	57036726	2	2	269	1	0	0	0	0	0	0	0	1	17927	1596	56	3		3	ZNF471	19	57036726	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	141119	57036726	2092257	765	133413											
PEG3	5178	broad.mit.edu	37	chr19	57325574	57325574	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggctcagcagcctccacTtctggctcagcagcctccac	8	17	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57325574T>C	uc002qnu.2	-	7	4587	c.4236A>G	c.(4234-4236)GAA>GAG	p.E1412E	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.E1383E|PEG3_uc002qnv.2_Silent_p.E1412E|PEG3_uc002qnw.2_Silent_p.E1288E|PEG3_uc002qnx.2_Silent_p.E1286E|PEG3_uc010etr.2_Silent_p.E1412E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1412	Glu-rich.|3 X 7 AA repeat of P-E-V-E-A-A-E.|2-3.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCAG	0.587													C	57325574	T	C	57325574	2	2	269	1	0	0	0	0	0	0	0	1	11720	1606	56	3		3	PEG3	19	57325574	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	288848	57325574	1803409	766	133414											
PEG3	5178	broad.mit.edu	37	chr19	57328547	57328547	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgctcatggcttttctcatCtcactaccacattcaaaggg	6	13	4	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57328547C>G	uc002qnu.2	-	7	1614	c.1263G>C	c.(1261-1263)GAG>GAC	p.E421D	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E392D|PEG3_uc002qnv.2_Missense_Mutation_p.E421D|PEG3_uc002qnw.2_Missense_Mutation_p.E297D|PEG3_uc002qnx.2_Missense_Mutation_p.E295D|PEG3_uc010etr.2_Missense_Mutation_p.E421D	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	421					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTTTCTCATCTCACTACCAC	0.493													G	57328547	C	G	57328547	3	3	269	1	0	0	0	0	1	0	0	0	11720	912	32	5	3507	5	PEG3	19	57328547	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	2973	57328547	1800436	767	133415											
PEG3	5178	broad.mit.edu	37	chr19	57328612	57328612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgaatcgagcccttccCatctgtgtcaaaatgatagc	8	11	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57328612C>T	uc002qnu.2	-	7	1549	c.1198G>A	c.(1198-1200)GGG>AGG	p.G400R	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G371R|PEG3_uc002qnv.2_Missense_Mutation_p.G400R|PEG3_uc002qnw.2_Missense_Mutation_p.G276R|PEG3_uc002qnx.2_Missense_Mutation_p.G274R|PEG3_uc010etr.2_Missense_Mutation_p.G400R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	400					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCCCTTCCCATCTGTGTCA	0.463													T	57328612	C	T	57328612	3	4	269	1	0	0	0	0	1	0	0	0	11720	594	21	4	3572	4	PEG3	19	57328612	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	65	57328612	1800371	768	133416											
ZIM3	114026	broad.mit.edu	37	chr19	57648269	57648269	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcccagcacttcctcTtcctccaaccatggctcctt	3	20	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:57648269T>G	uc002qnz.1	-	4	599	c.213A>C	c.(211-213)GAA>GAC	p.E71D		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		GCACTTCCTCTTCCTCCAACC	0.512													G	57648269	T	G	57648269	3	3	269	1	0	0	0	0	1	0	0	0	17682	1606	56	5	1213	5	ZIM3	19	57648269	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	319657	57648269	1480714	769	133417											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549309	58549309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccccagggacaccgaAgcccagcgtctgcgcttccg	12	17	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr19:58549309A>G	uc002qrc.1	+	3	352	c.105A>G	c.(103-105)GAA>GAG	p.E35E	ZSCAN1_uc002qra.1_Silent_p.E35E|ZSCAN1_uc002qrb.1_Silent_p.E35E	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACACCGAAGCCCAGCGTC	0.716													G	58549309	A	G	58549309	2	3	269	1	0	0	0	0	0	0	0	1	18223	69	3	3		3	ZSCAN1	19	58549309	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	901040	58549309	579674	770	133418											
DEFB125	245938	broad.mit.edu	37	chr20	76727	76727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatactgaaaggtacatacTtctttgtaggaacaagctat	8	6	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:76727T>G	uc002wcw.2	+	2	140	c.140T>G	c.(139-141)CTT>CGT	p.L47R		NM_153325	NP_697020	Q8N687	DB125_HUMAN	defensin, beta 125 preproprotein	47					defense response to bacterium	extracellular region				ovary(1)|central_nervous_system(1)|skin(1)	3		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AGGTACATACTTCTTTGTAGG	0.353													G	76727	T	G	76727	3	3	269	1	0	0	0	0	1	0	0	0	4411	1609	56	5	146	5	DEFB125	20	76727	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		76727	62948793	771	133419											
ANGPT4	51378	broad.mit.edu	37	chr20	860401	860401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggctacctgtttgtaatCcttccagttccgctgaaaat	8	11	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:860401C>T	uc002wei.2	-	6	1145	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N	ANGPT4_uc010zpn.1_Missense_Mutation_p.D342N	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	348	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			ovary(2)	2						TGTTTGTAATCCTTCCAGTTC	0.597													T	860401	C	T	860401	3	4	269	1	0	0	0	0	1	0	0	0	612	855	30	4	485	4	ANGPT4	20	860401	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	783674	860401	62165119	772	133420											
SIRPG	55423	broad.mit.edu	37	chr20	1629745	1629745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacttaaactccacgttcTcagggctcccttttcgaaac	6	14	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:1629745T>C	uc002wfm.1	-	2	448	c.383A>G	c.(382-384)GAG>GGG	p.E128G	SIRPG_uc002wfn.1_Missense_Mutation_p.E128G|SIRPG_uc002wfo.1_Missense_Mutation_p.E128G	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	128	Extracellular (Potential).|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			ovary(1)	1						CTCCACGTTCTCAGGGCTCCC	0.483													C	1629745	T	C	1629745	3	2	269	1	0	0	0	0	1	0	0	0	14336	1551	54	3	796	3	SIRPG	20	1629745	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	769344	1629745	61395775	773	133421											
SIGLEC1	6614	broad.mit.edu	37	chr20	3687035	3687035	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacatctgaccagcggTtgacctcactgatctcgaag	8	13	4	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:3687035T>G	uc002wja.2	-	2	368	c.368A>C	c.(367-369)AAC>ACC	p.N123T	SIGLEC1_uc002wiz.3_Missense_Mutation_p.N123T|SIGLEC1_uc002wjc.2_Missense_Mutation_p.N34T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	123	Ig-like V-type.|Extracellular (Potential).|Sialic acid binding (By similarity).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						TGACCAGCGGTTGACCTCACT	0.597													G	3687035	T	G	3687035	3	3	269	1	0	0	0	0	1	0	0	0	14305	1725	60	5	4841	5	SIGLEC1	20	3687035	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2057290	3687035	59338485	774	133422											
MAVS	57506	broad.mit.edu	37	chr20	3838286	3838286	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcattgtgtcttccaggatcGactgcgggccacctgcacac	11	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:3838286G>C	uc002wjw.3	+	3	291	c.122G>C	c.(121-123)CGA>CCA	p.R41P	MAVS_uc002wjv.2_Missense_Mutation_p.R41P|MAVS_uc010zqn.1_Missense_Mutation_p.R41P|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	41	Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD.				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				0						TTCCAGGATCGACTGCGGGCC	0.627													C	3838286	G	C	3838286	3	2	269	1	0	0	0	0	1	0	0	0	9338	1058	37	5	128	5	MAVS	20	3838286	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	151251	3838286	59187234	775	133423											
CHGB	1114	broad.mit.edu	37	chr20	5903802	5903802	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actacagggcttcagaggaaGaacctgaatatggagaagaa	12	6	1	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:5903802G>A	uc002wmg.2	+	4	1318	c.1012G>A	c.(1012-1014)GAA>AAA	p.E338K	CHGB_uc010zqz.1_Missense_Mutation_p.E21K	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	338						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						TTCAGAGGAAGAACCTGAATA	0.537													A	5903802	G	A	5903802	3	1	269	1	0	0	0	0	1	0	0	0	3339	943	33	4	1026	4	CHGB	20	5903802	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	2065516	5903802	57121718	776	133424											
ISM1	140862	broad.mit.edu	37	chr20	13279747	13279747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcatcaagcgcaaggacTtccgctggaaggacgccagc	12	14	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:13279747T>G	uc010gce.1	+	6	1042	c.1036T>G	c.(1036-1038)TTC>GTC	p.F346V	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	346	AMOP.					extracellular region					0						GCGCAAGGACTTCCGCTGGAA	0.627													G	13279747	T	G	13279747	3	3	269	1	0	0	0	0	1	0	0	0	7860	1609	56	5	1058	5	ISM1	20	13279747	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	7375945	13279747	49745773	777	133425											
BFSP1	631	broad.mit.edu	37	chr20	17474931	17474931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaagcacctcagctccatCctgatcagccgcaggctttg	8	17	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:17474931C>T	uc002wpo.2	-	8	1825	c.1786G>A	c.(1786-1788)GAT>AAT	p.D596N	BFSP1_uc002wpp.2_Missense_Mutation_p.D471N|BFSP1_uc010zrn.1_Missense_Mutation_p.D457N|BFSP1_uc010zro.1_Missense_Mutation_p.D457N	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	596	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						TCAGCTCCATCCTGATCAGCC	0.567													T	17474931	C	T	17474931	3	4	269	1	0	0	0	0	1	0	0	0	1415	855	30	4	215	4	BFSP1	20	17474931	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	4195184	17474931	45550589	778	133426											
RALGAPA2	57186	broad.mit.edu	37	chr20	20610136	20610136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgctgagtcttcggtcCgacaaggtgctgctgttaga	14	8	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:20610136C>T	uc002wrz.2	-	10	1247	c.1104G>A	c.(1102-1104)TCG>TCA	p.S368S	RALGAPA2_uc010gcx.2_Silent_p.S72S|RALGAPA2_uc010zsg.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	368					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GTCTTCGGTCCGACAAGGTGC	0.537													T	20610136	C	T	20610136	2	4	269	1	0	0	0	0	0	0	0	1	13014	639	23	1		1	RALGAPA2	20	20610136	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3135205	20610136	42415384	779	133427											
DEFB116	245930	broad.mit.edu	37	chr20	29891089	29891089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcctccttcacattttTagaactggttattttcacag	5	9	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:29891089T>C	uc010ztm.1	-	2	235	c.235A>G	c.(235-237)AAA>GAA	p.K79E		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116 precursor	79					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCACATTTTTAGAACTGGTT	0.393													C	29891089	T	C	29891089	3	2	269	1	0	0	0	0	1	0	0	0	4405	1763	61	3	76	3	DEFB116	20	29891089	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	9280953	29891089	33134431	780	133428											
NCOA6	23054	broad.mit.edu	37	chr20	33315155	33315155	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccacagttggctcttcagttCgggagtttcttcggcctggg	13	11	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:33315155C>G	uc002xav.2	-	15	8627	c.6056G>C	c.(6055-6057)CGA>CCA	p.R2019P	NCOA6_uc002xaw.2_Missense_Mutation_p.R2019P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2019	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			ovary(3)|breast(3)|central_nervous_system(1)	7						CTCTTCAGTTCGGGAGTTTCT	0.488													G	33315155	C	G	33315155	3	3	269	1	0	0	0	0	1	0	0	0	10233	884	31	5	143	5	NCOA6	20	33315155	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	3424066	33315155	29710365	781	133429											
PHF20	51230	broad.mit.edu	37	chr20	34505573	34505573	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtccaggaggaaaatgacTtcatgattcaggtaggcaga	13	6	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:34505573T>G	uc002xek.1	+	13	2104	c.1993T>G	c.(1993-1995)TTC>GTC	p.F665V		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	665	PHD-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GGAAAATGACTTCATGATTCA	0.507													G	34505573	T	G	34505573	3	3	269	1	0	0	0	0	1	0	0	0	11831	1609	56	5	2039	5	PHF20	20	34505573	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1190418	34505573	28519947	782	133430											
RPN2	6185	broad.mit.edu	37	chr20	35857032	35857032	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaacaagaacgtgtacaAgtttgaactggatacctctg	9	8	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:35857032A>C	uc002xgp.2	+	12	1683	c.1379A>C	c.(1378-1380)AAG>ACG	p.K460T	RPN2_uc002xgo.3_Missense_Mutation_p.K460T|RPN2_uc010gfw.2_Missense_Mutation_p.K303T|RPN2_uc002xgq.2_Missense_Mutation_p.K428T	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	460	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AACGTGTACAAGTTTGAACTG	0.433													C	35857032	A	C	35857032	3	2	269	1	0	0	0	0	1	0	0	0	13608	72	3	5	1425	5	RPN2	20	35857032	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1351459	35857032	27168488	783	133431											
PLCG1	5335	broad.mit.edu	37	chr20	39793674	39793674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggacacactcctcaccaAgcccgtggagatctctgccg	12	15	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:39793674A>G	uc002xjp.1	+	13	1440	c.1319A>G	c.(1318-1320)AAG>AGG	p.K440R	PLCG1_uc002xjo.1_Missense_Mutation_p.K440R|PLCG1_uc010zwe.1_Missense_Mutation_p.K66R|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	440	PI-PLC X-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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CTCCTCACCAAGCCCGTGGAG	0.577													G	39793674	A	G	39793674	3	3	269	1	0	0	0	0	1	0	0	0	12035	72	3	3	1369	3	PLCG1	20	39793674	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3936642	39793674	23231846	784	133432											
CHD6	84181	broad.mit.edu	37	chr20	40116398	40116398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttaacaaactgaagagCtcctccacagagttctgcaa	6	10	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:40116398C>T	uc002xka.1	-	14	2086	c.1908G>A	c.(1906-1908)GAG>GAA	p.E636E	CHD6_uc002xkd.2_Silent_p.E614E	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	636	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			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AACTGAAGAGCTCCTCCACAG	0.428													T	40116398	C	T	40116398	2	4	269	1	0	0	0	0	0	0	0	1	3329	796	28	2		2	CHD6	20	40116398	Silent	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	322724	40116398	22909122	785	133433											
PTPRT	11122	broad.mit.edu	37	chr20	40877418	40877418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcacggtgttgtccaCctgcttctctggctccacag	8	15	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:40877418C>T	uc002xkg.2	-	14	2405	c.2221G>A	c.(2221-2223)GTG>ATG	p.V741M	PTPRT_uc010ggj.2_Missense_Mutation_p.V760M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	741	Extracellular (Potential).				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGTTGTCCACCTGCTTCTCT	0.522													T	40877418	C	T	40877418	3	4	269	1	0	0	0	0	1	0	0	0	12812	507	18	4	2176	4	PTPRT	20	40877418	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	761020	40877418	22148102	786	133434											
ZNF334	55713	broad.mit.edu	37	chr20	45130560	45130560	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatagtgagtgttgacTtatggcagaaaaatttccca	10	5	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:45130560T>G	uc002xsc.2	-	5	1602	c.1418A>C	c.(1417-1419)AAG>ACG	p.K473T	ZNF334_uc002xsa.2_Missense_Mutation_p.K496T|ZNF334_uc002xsb.2_Missense_Mutation_p.K435T|ZNF334_uc002xsd.2_Missense_Mutation_p.K435T|ZNF334_uc010ghl.2_Missense_Mutation_p.K472T	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	473	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GAGTGTTGACTTATGGCAGAA	0.363													G	45130560	T	G	45130560	3	3	269	1	0	0	0	0	1	0	0	0	17848	1609	56	5	628	5	ZNF334	20	45130560	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4253142	45130560	17894960	787	133435											
ZNF334	55713	broad.mit.edu	37	chr20	45131159	45131159	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgtcttcacacgaaaAgttttcctacaatcactaca	5	11	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:45131159A>C	uc002xsc.2	-	5	1003	c.819T>G	c.(817-819)ACT>ACG	p.T273T	ZNF334_uc002xsa.2_Silent_p.T296T|ZNF334_uc002xsb.2_Silent_p.T235T|ZNF334_uc002xsd.2_Silent_p.T235T|ZNF334_uc010ghl.2_Silent_p.T272T	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	273	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TCACACGAAAAGTTTTCCTAC	0.403													C	45131159	A	C	45131159	2	2	269	1	0	0	0	0	0	0	0	1	17848	59	3	5		5	ZNF334	20	45131159	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	599	45131159	17894361	788	133436											
SLC13A3	64849	broad.mit.edu	37	chr20	45239199	45239199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggaggcggtgttgcTcagccacatggacaagaacg	16	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:45239199T>C	uc002xsf.1	-	3	465	c.427A>G	c.(427-429)AGC>GGC	p.S143G	SLC13A3_uc010ghn.1_Missense_Mutation_p.S112G|SLC13A3_uc010zxw.1_Missense_Mutation_p.S143G|SLC13A3_uc002xsg.1_Missense_Mutation_p.S96G|SLC13A3_uc010gho.1_Missense_Mutation_p.S96G|SLC13A3_uc010zxx.1_Missense_Mutation_p.S45G|SLC13A3_uc002xsi.3_Missense_Mutation_p.S96G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	143	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCGGTGTTGCTCAGCCACATG	0.562													C	45239199	T	C	45239199	3	2	269	1	0	0	0	0	1	0	0	0	14393	1551	54	3	1425	3	SLC13A3	20	45239199	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	108040	45239199	17786321	789	133437											
NCOA3	8202	broad.mit.edu	37	chr20	46251013	46251013	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggattaggagaaaacTtggatccactggccagtgat	13	6	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:46251013T>G	uc002xtk.2	+	3	227	c.22T>G	c.(22-24)TTG>GTG	p.L8V	NCOA3_uc010ght.1_Missense_Mutation_p.L8V|NCOA3_uc002xtl.2_Missense_Mutation_p.L8V|NCOA3_uc002xtm.2_Missense_Mutation_p.L8V|NCOA3_uc002xtn.2_Missense_Mutation_p.L8V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	8					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			ovary(3)|lung(1)|skin(1)	5						AGGAGAAAACTTGGATCCACT	0.373													G	46251013	T	G	46251013	3	3	269	1	0	0	0	0	1	0	0	0	10230	1606	56	5	24	5	NCOA3	20	46251013	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1011814	46251013	16774507	790	133438											
NCOA3	8202	broad.mit.edu	37	chr20	46264433	46264433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagtccaaagatagccTcacatcagttttctcctgtt	9	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:46264433T>C	uc002xtk.2	+	11	1685	c.1480T>C	c.(1480-1482)TCA>CCA	p.S494P	NCOA3_uc010ght.1_Missense_Mutation_p.S504P|NCOA3_uc002xtl.2_Missense_Mutation_p.S494P|NCOA3_uc002xtm.2_Missense_Mutation_p.S494P|NCOA3_uc002xtn.2_Missense_Mutation_p.S494P|NCOA3_uc010zyc.1_Missense_Mutation_p.S289P	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	494					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			ovary(3)|lung(1)|skin(1)	5						AAAGATAGCCTCACATCAGTT	0.393													C	46264433	T	C	46264433	3	2	269	1	0	0	0	0	1	0	0	0	10230	1551	54	3	1544	3	NCOA3	20	46264433	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	13420	46264433	16761087	791	133439											
ARFGEF2	10564	broad.mit.edu	37	chr20	47604924	47604924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagacttgcacagtcctcAggtaaagcactttaatgatt	7	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:47604924A>G	uc002xtx.3	+	17	2512	c.2360A>G	c.(2359-2361)CAG>CGG	p.Q787R	ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q80R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	787					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACAGTCCTCAGGTAAAGCAC	0.333													G	47604924	A	G	47604924	3	3	269	1	0	0	0	0	1	0	0	0	853	202	7	3	2426	3	ARFGEF2	20	47604924	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1340491	47604924	15420596	792	133440											
KCNB1	3745	broad.mit.edu	37	chr20	47990728	47990728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccatcatctcaatgcTccgggcaaaagcatccttca	6	13	3	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:47990728T>C	uc002xur.1	-	2	1533	c.1369A>G	c.(1369-1371)AGC>GGC	p.S457G	KCNB1_uc002xus.1_Missense_Mutation_p.S457G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	457	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATCTCAATGCTCCGGGCAAAA	0.448													C	47990728	T	C	47990728	3	2	269	1	0	0	0	0	1	0	0	0	8012	1551	54	3	1211	3	KCNB1	20	47990728	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	385804	47990728	15034792	793	133441											
CYP24A1	1591	broad.mit.edu	37	chr20	52773991	52773991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgcacattctttttccaAcgccaaatggaagatgcgca	7	11	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:52773991A>G	uc002xwv.2	-	10	1768	c.1370T>C	c.(1369-1371)GTT>GCT	p.V457A	CYP24A1_uc002xwu.1_Missense_Mutation_p.V315A|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	457					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCTTTTTCCAACGCCAAATGG	0.408													G	52773991	A	G	52773991	3	3	269	1	0	0	0	0	1	0	0	0	4154	43	2	3	182	3	CYP24A1	20	52773991	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4783263	52773991	10251529	794	133442											
STX16	8675	broad.mit.edu	37	chr20	57246330	57246330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgaaatattcagggacTtaggggcgatgattgtagaa	13	3	1	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:57246330T>G	uc002xzi.2	+	7	1504	c.769T>G	c.(769-771)TTA>GTA	p.L257V	STX16_uc010zzq.1_Missense_Mutation_p.L71V|STX16_uc002xzk.2_Missense_Mutation_p.L240V|STX16_uc002xzm.2_Missense_Mutation_p.L253V|STX16_uc002xzj.2_Missense_Mutation_p.L236V|STX16_uc002xzl.2_Missense_Mutation_p.L71V	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	257	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ATTCAGGGACTTAGGGGCGAT	0.468													G	57246330	T	G	57246330	3	3	269	1	0	0	0	0	1	0	0	0	15338	1606	56	5	795	5	STX16	20	57246330	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4472339	57246330	5779190	795	133443											
SYCP2	10388	broad.mit.edu	37	chr20	58467402	58467402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttcttatatttcacTtttcctgttccttcagaatt	3	9	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:58467402T>G	uc002yaz.2	-	23	2146	c.2007A>C	c.(2005-2007)AAA>AAC	p.K669N		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	669					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATTTCACTTTTCCTGTTC	0.279													G	58467402	T	G	58467402	3	3	269	1	0	0	0	0	1	0	0	0	15429	1606	56	5	2673	5	SYCP2	20	58467402	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1221072	58467402	4558118	796	133444											
TAF4	6874	broad.mit.edu	37	chr20	60582672	60582672	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tataacctgcttgtgaaatcTtctgcttctatttttccatc	4	10	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:60582672T>A	uc002ybs.2	-	6	1905	c.1905A>T	c.(1903-1905)GAA>GAT	p.E635D		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	635	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			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTGTGAAATCTTCTGCTTCTA	0.428													A	60582672	T	A	60582672	3	1	269	1	0	0	0	0	1	0	0	0	15523	1606	56	5	1392	5	TAF4	20	60582672	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2115270	60582672	2442848	797	133445											
LSM14B	149986	broad.mit.edu	37	chr20	60706523	60706523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctactatgacaaatccaAgtcgttcttcgacaacatct	5	12	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:60706523A>C	uc010gjy.1	+	7	1153	c.947A>C	c.(946-948)AAG>ACG	p.K316T	LSM14B_uc002ybv.2_Missense_Mutation_p.K290T|LSM14B_uc010zzz.1_Missense_Mutation_p.K236T	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	316	FFD box.				multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GACAAATCCAAGTCGTTCTTC	0.547													C	60706523	A	C	60706523	3	2	269	1	0	0	0	0	1	0	0	0	9055	72	3	5	973	5	LSM14B	20	60706523	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	123851	60706523	2318997	798	133446											
NPBWR2	2832	broad.mit.edu	37	chr20	62737206	62737206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgcaatatgctgcggaAgttcttccggaagttgtcat	11	10	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:62737206A>C	uc011abt.1	-	1	979	c.979T>G	c.(979-981)TTC>GTC	p.F327V		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	327	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ATGCTGCGGAAGTTCTTCCGG	0.383													C	62737206	A	C	62737206	3	2	269	1	0	0	0	0	1	0	0	0	10569	72	3	5	25	5	NPBWR2	20	62737206	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2030683	62737206	288314	799	133447											
MYT1	4661	broad.mit.edu	37	chr20	62853325	62853325	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaattttgaggagcggaAgtatccgggggaagtcaccc	15	7	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr20:62853325A>C	uc002yii.2	+	14	2685	c.2321A>C	c.(2320-2322)AAG>ACG	p.K774T	MYT1_uc002yih.2_Missense_Mutation_p.K476T|MYT1_uc002yij.2_Missense_Mutation_p.K433T	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	774					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGGAGCGGAAGTATCCGGGG	0.498													C	62853325	A	C	62853325	3	2	269	1	0	0	0	0	1	0	0	0	10106	72	3	5	2367	5	MYT1	20	62853325	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	116119	62853325	172195	800	133448											
CLDN8	9073	broad.mit.edu	37	chr21	31588128	31588128	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttcaaaaaccacgatgTtgttttcaatgaaggccgac	8	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:31588128T>G	uc002ynu.1	-	1	191	c.116A>C	c.(115-117)AAC>ACC	p.N39T		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	39	Extracellular (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						AACCACGATGTTGTTTTCAAT	0.488													G	31588128	T	G	31588128	3	3	269	1	0	0	0	0	1	0	0	0	3491	1725	60	5	565	5	CLDN8	21	31588128	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		31588128	16541767	801	133449											
SYNJ1	8867	broad.mit.edu	37	chr21	34003768	34003768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctctgattcttcagacTtggctctaaatgggtttcca	8	10	4	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:34003768T>G	uc002yqh.2	-	32	4376	c.4376A>C	c.(4375-4377)AAG>ACG	p.K1459T	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.K1373T|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Missense_Mutation_p.K45T	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1420	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						TTCTTCAGACTTGGCTCTAAA	0.458													G	34003768	T	G	34003768	3	3	269	1	0	0	0	0	1	0	0	0	15449	1609	56	5	466	5	SYNJ1	21	34003768	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2415640	34003768	14126127	802	133450											
ITSN1	6453	broad.mit.edu	37	chr21	35147303	35147303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaactagaagggaaacTtcaagatatcagatgtcgat	9	7	3	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:35147303T>G	uc002yta.1	+	14	1755	c.1487T>G	c.(1486-1488)CTT>CGT	p.L496R	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.L496R|ITSN1_uc010gmg.2_Missense_Mutation_p.L459R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.L496R|ITSN1_uc010gmi.2_Missense_Mutation_p.L459R|ITSN1_uc010gmj.2_Missense_Mutation_p.L380R|ITSN1_uc002ysy.2_Missense_Mutation_p.L496R|ITSN1_uc002ysx.2_Missense_Mutation_p.L459R|ITSN1_uc002ytb.1_Missense_Mutation_p.L496R|ITSN1_uc002ytc.1_Missense_Mutation_p.L496R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.L459R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.L496R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.L430R	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	496	Potential.|KLERQ.				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			ovary(3)|skin(1)	4						GAAGGGAAACTTCAAGATATC	0.328													G	35147303	T	G	35147303	3	3	269	1	0	0	0	0	1	0	0	0	7926	1609	56	5	1537	5	ITSN1	21	35147303	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	1143535	35147303	12982592	803	133451											
ITSN1	6453	broad.mit.edu	37	chr21	35154338	35154338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagccttagaagcaaaAgaactagctcggcagcacct	9	10	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:35154338A>G	uc002yta.1	+	16	1993	c.1725A>G	c.(1723-1725)AAA>AAG	p.K575K	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.K575K|ITSN1_uc010gmg.2_Silent_p.K538K|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.K575K|ITSN1_uc010gmi.2_Silent_p.K538K|ITSN1_uc010gmj.2_Silent_p.K459K|ITSN1_uc002ysy.2_Silent_p.K575K|ITSN1_uc002ysx.2_Silent_p.K538K|ITSN1_uc002ytb.1_Silent_p.K575K|ITSN1_uc002ytc.1_Silent_p.K575K|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.K538K|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.K575K|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.K509K	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	575	Potential.|KLERQ.				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			ovary(3)|skin(1)	4						TAGAAGCAAAAGAACTAGCTC	0.363													G	35154338	A	G	35154338	2	3	269	1	0	0	0	0	0	0	0	1	7926	69	3	3		3	ITSN1	21	35154338	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	7035	35154338	12975557	804	133452											
PRDM15	63977	broad.mit.edu	37	chr21	43258119	43258119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatccgctcatctggcgTtgcactcacaggctcatccg	9	15	4	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:43258119T>C	uc002yzq.1	-	15	2134	c.2023A>G	c.(2023-2025)ACG>GCG	p.T675A	PRDM15_uc002yzo.2_Missense_Mutation_p.T346A|PRDM15_uc002yzp.2_Missense_Mutation_p.T346A|PRDM15_uc002yzr.1_Missense_Mutation_p.T346A	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCATCTGGCGTTGCACTCACA	0.577													C	43258119	T	C	43258119	3	2	269	1	0	0	0	0	1	0	0	0	12456	1725	60	3	2568	3	PRDM15	21	43258119	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8103781	43258119	4871776	805	133453											
PDE9A	5152	broad.mit.edu	37	chr21	44185506	44185506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagggaatgatcacattaAtcttggccactgacatggca	9	8	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:44185506A>C	uc002zbm.2	+	15	1321	c.1258A>C	c.(1258-1260)ATC>CTC	p.I420L	PDE9A_uc002zbn.2_Missense_Mutation_p.I293L|PDE9A_uc002zbo.2_Missense_Mutation_p.I367L|PDE9A_uc002zbp.2_Missense_Mutation_p.I213L|PDE9A_uc002zbq.2_Missense_Mutation_p.I318L|PDE9A_uc002zbs.2_Missense_Mutation_p.I213L|PDE9A_uc002zbr.2_Missense_Mutation_p.I213L|PDE9A_uc002zbt.2_Missense_Mutation_p.I292L|PDE9A_uc002zbu.2_Missense_Mutation_p.I286L|PDE9A_uc002zbv.2_Missense_Mutation_p.I260L|PDE9A_uc002zbw.2_Missense_Mutation_p.I203L|PDE9A_uc002zbx.2_Missense_Mutation_p.I360L|PDE9A_uc002zby.2_Missense_Mutation_p.I203L|PDE9A_uc002zbz.2_Missense_Mutation_p.I312L|PDE9A_uc002zca.2_Missense_Mutation_p.I379L|PDE9A_uc002zcb.2_Missense_Mutation_p.I394L|PDE9A_uc002zcc.2_Missense_Mutation_p.I319L|PDE9A_uc002zcd.2_Missense_Mutation_p.I334L|PDE9A_uc002zce.2_Missense_Mutation_p.I353L|PDE9A_uc002zcf.2_Missense_Mutation_p.I213L|PDE9A_uc002zcg.2_Missense_Mutation_p.I213L|PDE9A_uc002zch.2_Missense_Mutation_p.I203L|PDE9A_uc010gpf.1_Missense_Mutation_p.I213L	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	420	Catalytic (By similarity).				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			ovary(1)|skin(1)	2						GATCACATTAATCTTGGCCAC	0.443													C	44185506	A	C	44185506	3	2	269	1	0	0	0	0	1	0	0	0	11655	101	4	5	1396	5	PDE9A	21	44185506	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	927387	44185506	3944389	806	133454											
PDE9A	5152	broad.mit.edu	37	chr21	44189228	44189228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccagattgggttcatcaAgtttgtcctgatcccaatgt	9	10	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:44189228A>C	uc002zbm.2	+	17	1616	c.1553A>C	c.(1552-1554)AAG>ACG	p.K518T	PDE9A_uc002zbn.2_Missense_Mutation_p.K391T|PDE9A_uc002zbo.2_Missense_Mutation_p.K465T|PDE9A_uc002zbp.2_Missense_Mutation_p.K311T|PDE9A_uc002zbq.2_Missense_Mutation_p.K416T|PDE9A_uc002zbs.2_Missense_Mutation_p.K311T|PDE9A_uc002zbr.2_Missense_Mutation_p.K311T|PDE9A_uc002zbt.2_Missense_Mutation_p.K390T|PDE9A_uc002zbu.2_Missense_Mutation_p.K384T|PDE9A_uc002zbv.2_Missense_Mutation_p.K358T|PDE9A_uc002zbw.2_Missense_Mutation_p.K301T|PDE9A_uc002zbx.2_Missense_Mutation_p.K458T|PDE9A_uc002zby.2_Missense_Mutation_p.K301T|PDE9A_uc002zbz.2_Missense_Mutation_p.K410T|PDE9A_uc002zca.2_Missense_Mutation_p.K477T|PDE9A_uc002zcb.2_Missense_Mutation_p.K492T|PDE9A_uc002zcc.2_Missense_Mutation_p.K417T|PDE9A_uc002zcd.2_Missense_Mutation_p.K432T|PDE9A_uc002zce.2_Missense_Mutation_p.K451T|PDE9A_uc002zcf.2_Missense_Mutation_p.K311T|PDE9A_uc002zcg.2_Missense_Mutation_p.K311T|PDE9A_uc002zch.2_Missense_Mutation_p.K301T	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	518	Catalytic (By similarity).				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			ovary(1)|skin(1)	2						GGGTTCATCAAGTTTGTCCTG	0.478													C	44189228	A	C	44189228	3	2	269	1	0	0	0	0	1	0	0	0	11655	72	3	5	1699	5	PDE9A	21	44189228	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3722	44189228	3940667	807	133455											
PFKL	5211	broad.mit.edu	37	chr21	45732916	45732916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgaacatcgcgggcctAgtgggctccatcgataacga	11	13	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:45732916A>G	uc002zel.2	+	5	542	c.483A>G	c.(481-483)CTA>CTG	p.L161L	PFKL_uc002zek.2_Silent_p.L208L|PFKL_uc011afd.1_Silent_p.L208L	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	161					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				0				Colorectal(79;0.0811)		TCGCGGGCCTAGTGGGCTCCA	0.622													G	45732916	A	G	45732916	2	3	269	1	0	0	0	0	0	0	0	1	11764	407	15	3		3	PFKL	21	45732916	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1543688	45732916	2396979	808	133456											
ADARB1	104	broad.mit.edu	37	chr21	46604862	46604862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagatagacacccaaatcGtaaagcaagaggacagctac	9	10	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:46604862G>A	uc002zgy.2	+	9	1976	c.1541G>A	c.(1540-1542)CGT>CAT	p.R514H	ADARB1_uc002zgr.2_Missense_Mutation_p.R514H|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.R474H|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.R474H|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	514	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CACCCAAATCGTAAAGCAAGA	0.453													A	46604862	G	A	46604862	3	1	269	1	0	0	0	0	1	0	0	0	282	1145	40	1	1567	1	ADARB1	21	46604862	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	871946	46604862	1525033	809	133457											
COL18A1	80781	broad.mit.edu	37	chr21	46910218	46910218	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagatggagtccccggGttccccggcctccctggcag	15	15	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:46910218G>T	uc011afs.1	+	19	3255	c.3234G>T	c.(3232-3234)GGG>GGT	p.G1078G	COL18A1_uc002zhg.2_Silent_p.G663G|COL18A1_uc002zhi.2_Silent_p.G843G	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1078	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGTCCCCGGGTTCCCCGGCC	0.662													T	46910218	G	T	46910218	2	4	269	1	0	0	0	0	0	0	0	1	3675	1248	44	5		5	COL18A1	21	46910218	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	305356	46910218	1219677	810	133458											
SLC19A1	6573	broad.mit.edu	37	chr21	46950884	46950884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgaaggacgtgatggcGcctgagaggggagggatggg	23	6	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr21:46950884G>A	uc002zhl.1	-	4	1070	c.951C>T	c.(949-951)GGC>GGT	p.G317G	SLC19A1_uc010gpy.1_Silent_p.G317G|SLC19A1_uc011aft.1_Silent_p.G277G|SLC19A1_uc002zhm.1_Silent_p.G317G|SLC19A1_uc010gpz.1_Silent_p.G196G	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	317	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACGTGATGGCGCCTGAGAGGG	0.672													A	46950884	G	A	46950884	2	1	269	1	0	0	0	0	0	0	0	1	14428	1101	38	1		1	SLC19A1	21	46950884	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	40666	46950884	1179011	811	133459											
DGCR14	8220	broad.mit.edu	37	chr22	19121815	19121815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggcagagccaggcgccGgtgtgcttgtgggggtctgc	20	9	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:19121815G>A	uc002zou.2	-	10	1362	c.1325C>T	c.(1324-1326)CCG>CTG	p.P442L	DGCR14_uc002zot.2_Missense_Mutation_p.P363L|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	442					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					GCCAGGCGCCGGTGTGCTTGT	0.682													A	19121815	G	A	19121815	3	1	269	1	0	0	0	0	1	0	0	0	4460	1116	39	1	109	1	DGCR14	22	19121815	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08		19121815	32182751	812	133460											
ZDHHC8	29801	broad.mit.edu	37	chr22	20128995	20128995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgacacctgccatgtacaAgtttaggccggctttcccca	8	16	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:20128995A>G	uc002zrq.2	+	9	1173	c.1067A>G	c.(1066-1068)AAG>AGG	p.K356R	ZDHHC8_uc002zrr.1_Missense_Mutation_p.K356R|ZDHHC8_uc010gsa.2_Missense_Mutation_p.K162R	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	356	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GCCATGTACAAGTTTAGGCCG	0.647													G	20128995	A	G	20128995	3	3	269	1	0	0	0	0	1	0	0	0	17618	72	3	3	1101	3	ZDHHC8	22	20128995	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1007180	20128995	31175571	813	133461											
PI4KA	5297	broad.mit.edu	37	chr22	21107256	21107256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtggatgtggttgaaGttcaccaacaggaactgagc	12	8	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:21107256G>A	uc002zsz.3	-	25	2979	c.2748C>T	c.(2746-2748)AAC>AAT	p.N916N		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	916					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			TGTGGTTGAAGTTCACCAACA	0.493													A	21107256	G	A	21107256	2	1	269	1	0	0	0	0	0	0	0	1	11873	1020	36	4		4	PI4KA	22	21107256	Silent	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	978261	21107256	30197310	814	133462											
RTDR1	27156	broad.mit.edu	37	chr22	23401893	23401893	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctccagggccgcatacTtccctgcaggccaccaacac	9	18	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:23401893T>G	uc002zwt.2	-	7	952	c.794A>C	c.(793-795)AAG>ACG	p.K265T		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	265							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGCCGCATACTTCCCTGCAGG	0.632													G	23401893	T	G	23401893	3	3	269	1	0	0	0	0	1	0	0	0	13719	1609	56	5	256	5	RTDR1	22	23401893	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2294637	23401893	27902673	815	133463											
MN1	4330	broad.mit.edu	37	chr22	28195419	28195419	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcaggcgggcacgaattTtgtcggactagaagcccggg	16	10	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:28195419T>G	uc003adj.2	-	1	2068	c.1113A>C	c.(1111-1113)CAA>CAC	p.Q371H		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	371							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGCACGAATTTTGTCGGACTA	0.512			T	ETV6	AML|meningioma								G	28195419	T	G	28195419	3	3	269	1	0	0	0	0	1	0	0	0	9673	1838	64	5	2857	5	MN1	22	28195419	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	4793526	28195419	23109147	816	133464											
SLC5A1	6523	broad.mit.edu	37	chr22	32480543	32480543	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctacactccaagggccgActccttccacatcttccgag	7	16	1	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:32480543A>C	uc003amc.2	+	8	1014	c.782A>C	c.(781-783)GAC>GCC	p.D261A	SLC5A1_uc011alz.1_Missense_Mutation_p.D134A	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	261	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						CCAAGGGCCGACTCCTTCCAC	0.512													C	32480543	A	C	32480543	3	2	269	1	0	0	0	0	1	0	0	0	14661	275	10	5	812	5	SLC5A1	22	32480543	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	4285124	32480543	18824023	817	133465											
RFPL3	10738	broad.mit.edu	37	chr22	32756703	32756703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgctgaggagccactgCgcccatttttggctccttca	9	14	2	1	rs73166367	by1000genomes	TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:32756703C>T	uc003amj.2	+	2	1043	c.838C>T	c.(838-840)CGC>TGC	p.R280C	RFPL3_uc010gwn.2_Missense_Mutation_p.R251C|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN	ret finger protein-like 3 isoform 1	280	B30.2/SPRY.						zinc ion binding	p.R251C(1)		ovary(1)	1						GGAGCCACTGCGCCCATTTTT	0.478													T	32756703	C	T	32756703	3	4	269	1	0	0	0	0	1	0	0	0	13255	768	27	1	844	1	RFPL3	22	32756703	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	276160	32756703	18547863	818	133466											
RASD2	23551	broad.mit.edu	37	chr22	35947700	35947700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catggtcatctgtggcaacaAgaacgaccacggcgagctgt	12	11	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:35947700A>C	uc003anx.2	+	3	627	c.422A>C	c.(421-423)AAG>ACG	p.K141T	RASD2_uc003any.2_Missense_Mutation_p.K141T	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	141	GTP (By similarity).				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3						TGTGGCAACAAGAACGACCAC	0.632													C	35947700	A	C	35947700	3	2	269	1	0	0	0	0	1	0	0	0	13067	72	3	5	428	5	RASD2	22	35947700	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3190997	35947700	15356866	819	133467											
APOL1	8542	broad.mit.edu	37	chr22	36661318	36661318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttctgaaagagtttcctCggttgaaaagtgagcttgag	13	5	1	5			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:36661318C>T	uc003apf.2	+	6	604	c.436C>T	c.(436-438)CGG>TGG	p.R146W	APOL1_uc011amn.1_Missense_Mutation_p.R23W|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.R162W|APOL1_uc011amo.1_Missense_Mutation_p.R23W|APOL1_uc011amp.1_Missense_Mutation_p.R146W|APOL1_uc011amq.1_Missense_Mutation_p.R128W|APOL1_uc010gwx.2_Missense_Mutation_p.R23W	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	146					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)|ovary(1)	3						AGAGTTTCCTCGGTTGAAAAG	0.468													T	36661318	C	T	36661318	3	4	269	1	0	0	0	0	1	0	0	0	805	875	31	1	506	1	APOL1	22	36661318	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	713618	36661318	14643248	820	133468											
TRIOBP	11078	broad.mit.edu	37	chr22	38119513	38119513	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctcatccacccaagAggacacccctagggcctcat	9	17	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:38119513A>T	uc003atr.2	+	7	1221	c.950A>T	c.(949-951)GAG>GTG	p.E317V	TRIOBP_uc003atu.2_Missense_Mutation_p.E145V|TRIOBP_uc003atq.1_Missense_Mutation_p.E317V|TRIOBP_uc003ats.1_Missense_Mutation_p.E145V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	317					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)	1	Melanoma(58;0.0574)					TCCACCCAAGAGGACACCCCT	0.602													T	38119513	A	T	38119513	3	4	269	1	0	0	0	0	1	0	0	0	16550	304	11	5	968	5	TRIOBP	22	38119513	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1458195	38119513	13185053	821	133469											
GTPBP1	9567	broad.mit.edu	37	chr22	39122387	39122387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaatccatccatcgcaAgcgcatgcctgtcaaggagg	10	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:39122387A>C	uc003awg.2	+	8	1497	c.1343A>C	c.(1342-1344)AAG>ACG	p.K448T		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	448					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					ATCCATCGCAAGCGCATGCCT	0.557													C	39122387	A	C	39122387	3	2	269	1	0	0	0	0	1	0	0	0	6878	72	3	5	1373	5	GTPBP1	22	39122387	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1002874	39122387	12182179	822	133470											
RANGAP1	5905	broad.mit.edu	37	chr22	41657532	41657532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccttcagggccagaggcTtgccttgggcactggatttc	13	11	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:41657532T>C	uc003azs.2	-	5	2003	c.533A>G	c.(532-534)AAG>AGG	p.K178R	RANGAP1_uc003azt.2_Missense_Mutation_p.K178R|RANGAP1_uc003azu.2_Missense_Mutation_p.K178R|RANGAP1_uc011aoz.1_Intron	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GGCCAGAGGCTTGCCTTGGGC	0.587													C	41657532	T	C	41657532	3	2	269	1	0	0	0	0	1	0	0	0	13033	1609	56	3	1274	3	RANGAP1	22	41657532	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	2535145	41657532	9647034	823	133471											
ZC3H7B	23264	broad.mit.edu	37	chr22	41739541	41739541	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcggatccggccccggcccActaagaccagcttcgtgggc	13	16	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:41739541A>T	uc003azw.2	+	13	1636	c.1420A>T	c.(1420-1422)ACT>TCT	p.T474S	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	490					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GCCCCGGCCCACTAAGACCAG	0.692													T	41739541	A	T	41739541	3	4	269	1	0	0	0	0	1	0	0	0	17570	159	6	5	1466	5	ZC3H7B	22	41739541	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	82009	41739541	9565025	824	133472											
FAM109B	150368	broad.mit.edu	37	chr22	42473316	42473316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaagctgaacgagaggAgtgtagcccactatgcactc	11	11	0	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chr22:42473316A>G	uc003bbz.2	+	3	206	c.19A>G	c.(19-21)AGT>GGT	p.S7G	C22orf32_uc003bca.2_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	hypothetical protein LOC150368	7					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						GAACGAGAGGAGTGTAGCCCA	0.517													G	42473316	A	G	42473316	3	3	269	1	0	0	0	0	1	0	0	0	5395	304	11	3	21	3	FAM109B	22	42473316	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	733775	42473316	8831250	825	133473											
MXRA5	25878	broad.mit.edu	37	chrX	3240744	3240744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgcaaaggtgtcttcTttcatcttatcctcatctgg	9	9	6	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:3240744T>C	uc004crg.3	-	5	3139	c.2982A>G	c.(2980-2982)AAA>AAG	p.K994K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	994						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGTGTCTTCTTTCATCTTAT	0.468													C	3240744	T	C	3240744	2	2	269	1	0	0	0	0	0	0	0	1	10003	1606	56	3		3	MXRA5	23	3240744	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08		3240744	152029816	826	133474											
CLCN4	1183	broad.mit.edu	37	chrX	10176510	10176510	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaatgaccccaacatgacTcggcctgtggatgacattcc	8	13	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:10176510T>G	uc004csy.3	+	9	1699	c.1269T>G	c.(1267-1269)ACT>ACG	p.T423T	CLCN4_uc011mid.1_Silent_p.T329T	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	423						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCAACATGACTCGGCCTGTGG	0.557													G	10176510	T	G	10176510	2	3	269	1	0	0	0	0	0	0	0	1	3465	1538	54	5		5	CLCN4	23	10176510	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6935766	10176510	145094050	827	133475											
FANCB	2187	broad.mit.edu	37	chrX	14868798	14868799	+	Splice_Site	INS	-	-	A													aggaacaagacattccttctINSaaaaaaaaaagtttaaataa							TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:14868798_14868799insA	uc004cwg.1	-	7	1595	c.1327_splice	c.e7-1	p.K443_splice	FANCB_uc004cwh.1_Splice_Site_p.K443_splice	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B						DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					ACATTCCTTCTAAAAAAAAAAG	0.312								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	14868799	-	A	14868798	8	5	269	1	0	1	1	0	0	0	1	0	5663	1536	53	0	1270	0	FANCB	23	14868798	Splice_Site	INS	-	TCGA-HU-A4GH-01A-11D-A24D-08	4692288	14868798	140401762	828	133476											
DMD	1756	broad.mit.edu	37	chrX	32834689	32834689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgagttgattgtcggacccaGctcaggagaatcttttcact	10	10	3	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:32834689G>C	uc004dda.1	-	6	670	c.426C>G	c.(424-426)AGC>AGG	p.S142R	DMD_uc004dcz.2_Missense_Mutation_p.S19R|DMD_uc004dcy.1_Missense_Mutation_p.S138R|DMD_uc004ddb.1_Missense_Mutation_p.S134R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.S134R|DMD_uc010ngp.1_Missense_Mutation_p.S19R|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	142	CH 2.|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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				GTCGGACCCAGCTCAGGAGAA	0.388													C	32834689	G	C	32834689	3	2	269	1	0	0	0	0	1	0	0	0	4580	962	34	5	11170	5	DMD	23	32834689	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	17965891	32834689	122435871	829	133477											
FAM47A	158724	broad.mit.edu	37	chrX	34148076	34148076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtaaaatatcattgcacGttgaataggagtcttaacag	8	6	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:34148076G>A	uc004ddg.2	-	1	2353	c.2320C>T	c.(2320-2322)CGT>TGT	p.R774C		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	774										ovary(4)|central_nervous_system(1)	5						ATCATTGCACGTTGAATAGGA	0.398													A	34148076	G	A	34148076	3	1	269	1	0	0	0	0	1	0	0	0	5569	1145	40	1	59	1	FAM47A	23	34148076	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	1313387	34148076	121122484	830	133478											
XK	7504	broad.mit.edu	37	chrX	37586943	37586943	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatggagccttgcgctgcaAcatcctagccatcaaaatca	8	12	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:37586943A>C	uc004ddq.2	+	3	645	c.563A>C	c.(562-564)AAC>ACC	p.N188T		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	188	Helical; (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TTGCGCTGCAACATCCTAGCC	0.473													C	37586943	A	C	37586943	3	2	269	1	0	0	0	0	1	0	0	0	17428	43	2	5	573	5	XK	23	37586943	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	3438867	37586943	117683617	831	133479											
CYBB	1536	broad.mit.edu	37	chrX	37660536	37660536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggatagtgggtcccatgTttctgtatctctgtgagagg	13	6	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:37660536T>G	uc004ddr.2	+	8	893	c.832T>G	c.(832-834)TTT>GTT	p.F278V	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.F246V|CYBB_uc011mkg.1_Missense_Mutation_p.F11V	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	278	Helical; (Potential).|Ferric oxidoreductase.				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)|skin(1)	2						GGGTCCCATGTTTCTGTATCT	0.393													G	37660536	T	G	37660536	3	3	269	1	0	0	0	0	1	0	0	0	4133	1725	60	5	862	5	CYBB	23	37660536	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	73593	37660536	117610024	832	133480											
GPR82	27197	broad.mit.edu	37	chrX	41587063	41587063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattctactaatagtttgcTtccttccttatagtattttt	4	7	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:41587063T>C	uc004dfs.1	+	3	1024	c.784T>C	c.(784-786)TTC>CTC	p.F262L	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.F262L|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	262	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						AATAGTTTGCTTCCTTCCTTA	0.308													C	41587063	T	C	41587063	3	2	269	1	0	0	0	0	1	0	0	0	6712	1609	56	3	786	3	GPR82	23	41587063	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	3926527	41587063	113683497	833	133481											
RP2	6102	broad.mit.edu	37	chrX	46713334	46713334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atacatggagtaacattcatGactttacacctgtgtcagga	8	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:46713334G>A	uc004dgw.3	+	2	715	c.526G>A	c.(526-528)GAC>AAC	p.D176N		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	176	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0						TAACATTCATGACTTTACACC	0.408													A	46713334	G	A	46713334	3	1	269	1	0	0	0	0	1	0	0	0	13534	1290	45	4	532	4	RP2	23	46713334	Missense_Mutation	SNP	G	TCGA-HU-A4GH-01A-11D-A24D-08	5126271	46713334	108557226	834	133482											
SSX7	280658	broad.mit.edu	37	chrX	52677333	52677333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcttgttaatcttctcAgaggtacttggttttcctgg	10	7	3	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:52677333A>G	uc004dqx.1	-	6	603	c.444T>C	c.(442-444)TCT>TCC	p.S148S		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					TAATCTTCTCAGAGGTACTTG	0.512													G	52677333	A	G	52677333	2	3	269	1	0	0	0	0	0	0	0	1	15208	175	7	3		3	SSX7	23	52677333	Silent	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5963999	52677333	102593227	835	133483											
RIBC1	158787	broad.mit.edu	37	chrX	53455348	53455348	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagaagcagcagctcaAgaacgggcgtgaatttagtc	14	8	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:53455348A>C	uc004dsk.2	+	5	470	c.317A>C	c.(316-318)AAG>ACG	p.K106T	RIBC1_uc004dsj.1_Missense_Mutation_p.K106T|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	106	Potential.										0						CAGCAGCTCAAGAACGGGCGT	0.507													C	53455348	A	C	53455348	3	2	269	1	0	0	0	0	1	0	0	0	13352	72	3	5	327	5	RIBC1	23	53455348	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	778015	53455348	101815212	836	133484											
FGF16	8823	broad.mit.edu	37	chrX	76711973	76711973	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgtagatccttctaAgttgccctccatgtccagag	9	13	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:76711973A>C	uc011mqp.1	+	2	584	c.311A>C	c.(310-312)AAG>ACG	p.K104T		NM_003868	NP_003859	O43320	FGF16_HUMAN	fibroblast growth factor 16	195					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			lung(1)	1						GATCCTTCTAAGTTGCCCTCC	0.522													C	76711973	A	C	76711973	3	2	269	1	0	0	0	0	1	0	0	0	5844	72	3	5	317	5	FGF16	23	76711973	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	23256625	76711973	78558587	837	133485											
LPAR4	2846	broad.mit.edu	37	chrX	78011340	78011340	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagtccttctacatcaAtgcccacatcagaatggagt	7	11	4	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:78011340A>C	uc010nme.2	+	2	1379	c.974A>C	c.(973-975)AAT>ACT	p.N325T		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	325	Cytoplasmic (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						TTCTACATCAATGCCCACATC	0.428													C	78011340	A	C	78011340	3	2	269	1	0	0	0	0	1	0	0	0	8907	101	4	5	976	5	LPAR4	23	78011340	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1299367	78011340	77259220	838	133486											
CYLC1	1538	broad.mit.edu	37	chrX	83128425	83128425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgatcccatatcagagAtttgctcagaaaatagttta	7	6	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:83128425A>G	uc004eei.1	+	4	730	c.709A>G	c.(709-711)ATT>GTT	p.I237V	CYLC1_uc004eeh.1_Missense_Mutation_p.I236V	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	237					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CATATCAGAGATTTGCTCAGA	0.333													G	83128425	A	G	83128425	3	3	269	1	0	0	0	0	1	0	0	0	4141	333	12	3	723	3	CYLC1	23	83128425	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	5117085	83128425	72142135	839	133487											
H2BFWT	158983	broad.mit.edu	37	chrX	103268024	103268024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagttggagtggcacctgCggggcccatggcgccctcgc	17	14	0	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:103268024C>T	uc004elr.2	-	1	233	c.209G>A	c.(208-210)CGC>CAC	p.R70H		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	70					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						GTGGCACCTGCGGGGCCCATG	0.647													T	103268024	C	T	103268024	3	4	269	1	0	0	0	0	1	0	0	0	6932	768	27	1	326	1	H2BFWT	23	103268024	Missense_Mutation	SNP	C	TCGA-HU-A4GH-01A-11D-A24D-08	20139599	103268024	52002536	840	133488											
CHRDL1	91851	broad.mit.edu	37	chrX	109937440	109937440	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaatttgcacaatggttccTgatgcttgctgggaatccat	9	9	0	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:109937440T>A	uc004eou.3	-	8	1078	c.729A>T	c.(727-729)TCA>TCT	p.S243S	CHRDL1_uc004eov.2_Silent_p.S237S|CHRDL1_uc004eow.2_Silent_p.S242S|CHRDL1_uc010nps.2_Silent_p.S242S|CHRDL1_uc004eot.2_Silent_p.S163S|CHRDL1_uc011mss.1_Silent_p.S157S	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	236					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						CAATGGTTCCTGATGCTTGCT	0.512													A	109937440	T	A	109937440	2	1	269	1	0	0	0	0	0	0	0	1	3373	1567	55	5		5	CHRDL1	23	109937440	Silent	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	6669416	109937440	45333120	841	133489											
GRIA3	2892	broad.mit.edu	37	chrX	122387364	122387364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtcattacaagtgggagaAgtttgtgtacctctatgaca	12	6	2	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:122387364A>C	uc004etq.3	+	4	772	c.479A>C	c.(478-480)AAG>ACG	p.K160T	GRIA3_uc004etr.3_Missense_Mutation_p.K160T|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.K144T	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	160	Extracellular (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	AAGTGGGAGAAGTTTGTGTAC	0.478													C	122387364	A	C	122387364	3	2	269	1	0	0	0	0	1	0	0	0	6769	72	3	5	489	5	GRIA3	23	122387364	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	12449924	122387364	32883196	842	133490											
THOC2	57187	broad.mit.edu	37	chrX	122801084	122801084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgttgccaatcaccaaTctttaataaggcttccaaca	5	11	2	0			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:122801084T>C	uc004etu.2	-	11	1095	c.1063A>G	c.(1063-1065)ATT>GTT	p.I355V	THOC2_uc011muh.1_Missense_Mutation_p.I276V|THOC2_uc011mui.1_Missense_Mutation_p.I240V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	355					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						CAATCACCAATCTTTAATAAG	0.383													C	122801084	T	C	122801084	3	2	269	1	0	0	0	0	1	0	0	0	15862	1435	50	3	3830	3	THOC2	23	122801084	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	413720	122801084	32469476	843	133491											
ODZ1	10178	broad.mit.edu	37	chrX	123654414	123654414	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccatagatgtcggtcTtgttccaagcaaatgtgtag	10	8	2	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:123654414T>G	uc004euj.2	-	18	3318	c.3254A>C	c.(3253-3255)AAG>ACG	p.K1085T	ODZ1_uc011muj.1_Missense_Mutation_p.K1084T|ODZ1_uc010nqy.2_Missense_Mutation_p.K1085T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1085	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GATGTCGGTCTTGTTCCAAGC	0.443													G	123654414	T	G	123654414	3	3	269	1	0	0	0	0	1	0	0	0	10834	1609	56	5	5004	5	ODZ1	23	123654414	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	853330	123654414	31616146	844	133492											
UTP14A	10813	broad.mit.edu	37	chrX	129055486	129055486	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattttgttgagagaatTtgaggaaaggcgatccctta	11	4	0	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:129055486T>G	uc004euz.2	+	11	1299	c.1271T>G	c.(1270-1272)TTT>TGT	p.F424C	UTP14A_uc011mup.1_Missense_Mutation_p.F372C|UTP14A_uc011muq.1_Missense_Mutation_p.F370C|UTP14A_uc004eva.1_Missense_Mutation_p.F130C	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	424					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TTGAGAGAATTTGAGGAAAGG	0.473													G	129055486	T	G	129055486	3	3	269	1	0	0	0	0	1	0	0	0	17092	1841	64	5	1313	5	UTP14A	23	129055486	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	5401072	129055486	26215074	845	133493											
MBNL3	55796	broad.mit.edu	37	chrX	131540287	131540287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgagcgttttggagcataAgctgcatctgctgggcgaac	13	8	1	1			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:131540287A>G	uc004ewv.3	-	2	390	c.311T>C	c.(310-312)CTT>CCT	p.L104P	uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.L8P|MBNL3_uc010nrl.1_RNA|MBNL3_uc004ews.2_Missense_Mutation_p.L8P|MBNL3_uc004ewt.2_Missense_Mutation_p.L54P|MBNL3_uc011muz.1_Missense_Mutation_p.L8P|MBNL3_uc004ewu.3_Missense_Mutation_p.L104P|MBNL3_uc004ewx.1_Missense_Mutation_p.L54P	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	104					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					TTGGAGCATAAGCTGCATCTG	0.468													G	131540287	A	G	131540287	3	3	269	1	0	0	0	0	1	0	0	0	9355	72	3	3	842	3	MBNL3	23	131540287	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2484801	131540287	23730273	846	133494											
GPC3	2719	broad.mit.edu	37	chrX	132888059	132888059	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatgtcatctacattgAtgtcagaacccaagatgtag	8	9	3	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:132888059A>T	uc004exe.1	-	3	672	c.482T>A	c.(481-483)ATC>AAC	p.I161N	GPC3_uc004exd.1_Missense_Mutation_p.I33N|GPC3_uc010nrn.1_Missense_Mutation_p.I161N|GPC3_uc011mvh.1_Missense_Mutation_p.I145N|GPC3_uc010nro.1_Missense_Mutation_p.I107N|GPC3_uc010nrp.1_Missense_Mutation_p.I33N	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	161						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					ATCTACATTGATGTCAGAACC	0.448			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				T	132888059	A	T	132888059	3	4	269	1	0	0	0	0	1	0	0	0	6599	333	12	5	1357	5	GPC3	23	132888059	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1347772	132888059	22382501	847	133495											
PLAC1	10761	broad.mit.edu	37	chrX	133700438	133700438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatctcagtgctgtagataAccatgtcctgagagacagct	10	9	1	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:133700438A>C	uc004exo.1	-	3	561	c.275T>G	c.(274-276)GTT>GGT	p.V92G	PLAC1_uc004exp.1_Missense_Mutation_p.V92G	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1 precursor	92					placenta development	extracellular region				pancreas(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCTGTAGATAACCATGTCCTG	0.532													C	133700438	A	C	133700438	3	2	269	1	0	0	0	0	1	0	0	0	12012	43	2	5	367	5	PLAC1	23	133700438	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	812379	133700438	21570122	848	133496											
GPR101	83550	broad.mit.edu	37	chrX	136113511	136113511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaggtgggtgaggctaAccagggccgtgcagaagtgg	18	8	0	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:136113511A>C	uc011mwh.1	-	1	323	c.323T>G	c.(322-324)GTT>GGT	p.V108G		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	108	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GGTGAGGCTAACCAGGGCCGT	0.617													C	136113511	A	C	136113511	3	2	269	1	0	0	0	0	1	0	0	0	6622	43	2	5	1206	5	GPR101	23	136113511	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	2413073	136113511	19157049	849	133497											
SLITRK2	84631	broad.mit.edu	37	chrX	144904311	144904311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaacaacaacaagcttgAgatattgagggaggacacct	9	9	1	2			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:144904311A>G	uc004fcd.2	+	5	1358	c.368A>G	c.(367-369)GAG>GGG	p.E123G	SLITRK2_uc010nsp.2_Missense_Mutation_p.E123G|SLITRK2_uc010nso.2_Missense_Mutation_p.E123G|SLITRK2_uc011mwq.1_Missense_Mutation_p.E123G|SLITRK2_uc011mwr.1_Missense_Mutation_p.E123G|SLITRK2_uc011mws.1_Missense_Mutation_p.E123G|SLITRK2_uc004fcg.2_Missense_Mutation_p.E123G|SLITRK2_uc011mwt.1_Missense_Mutation_p.E123G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	123	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AACAAGCTTGAGATATTGAGG	0.507													G	144904311	A	G	144904311	3	3	269	1	0	0	0	0	1	0	0	0	14743	304	11	3	370	3	SLITRK2	23	144904311	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	8790800	144904311	10366249	850	133498											
DUSP9	1852	broad.mit.edu	37	chrX	152915040	152915040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccccaacctcccaaacTtcttcgagaagaatggtgac	6	15	2	3			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:152915040T>G	uc004fhx.3	+	3	931	c.727T>G	c.(727-729)TTC>GTC	p.F243V	DUSP9_uc004fhy.3_Missense_Mutation_p.F243V	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCAAACTTCTTCGAGAA	0.547													G	152915040	T	G	152915040	3	3	269	1	0	0	0	0	1	0	0	0	4832	1609	56	5	733	5	DUSP9	23	152915040	Missense_Mutation	SNP	T	TCGA-HU-A4GH-01A-11D-A24D-08	8010729	152915040	2355520	851	133499											
F8	2157	broad.mit.edu	37	chrX	154157811	154157811	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcagatatataggtctAatagatggaaatgatgatac	10	4	2	4			TCGA-HU-A4GH-01A-11D-A24D-08	TCGA-HU-A4GH-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda886c2-d0fa-45c4-9a39-6b1256075100	dd1475c3-d723-4f2d-8327-a6dbc800a42c	g.chrX:154157811A>C	uc004fmt.2	-	14	4425	c.4254T>G	c.(4252-4254)ATT>ATG	p.I1418M		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1418	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			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	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)	ATATAGGTCTAATAGATGGAA	0.423													C	154157811	A	C	154157811	3	2	269	1	0	0	0	0	1	0	0	0	5350	358	13	5	2881	5	F8	23	154157811	Missense_Mutation	SNP	A	TCGA-HU-A4GH-01A-11D-A24D-08	1242771	154157811	1112749	852	133500											
TTLL10	254173	broad.mit.edu	37	chr1	1120454	1120454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgttctggaaggcccggGgcctcgccaaggactgggtc	15	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1120454G>A	uc001acy.2	+	13	1517	c.1366G>A	c.(1366-1368)GGC>AGC	p.G456S	TTLL10_uc010nyg.1_Missense_Mutation_p.G456S|TTLL10_uc001acz.1_Missense_Mutation_p.G383S	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	456	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(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;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)		GAAGGCCCGGGGCCTCGCCAA	0.617													A	1120454	G	A	1120454	3	1	270	1	0	0	0	0	1	0	0	0	16720	1232	43	4	1404	4	TTLL10	1	1120454	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08		1120454	248130167	1	133501											
SDF4	51150	broad.mit.edu	37	chr1	1152973	1152973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacttgagcacctcctcGggctccaggtggtggttctg	13	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1152973G>A	uc001adh.3	-	7	1337	c.1008C>T	c.(1006-1008)CCC>CCT	p.P336P	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_3'UTR|SDF4_uc009vjv.2_Silent_p.P214P|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	336	6 (Potential).|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).|EF-hand 6.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(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;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)		GCACCTCCTCGGGCTCCAGGT	0.547													A	1152973	G	A	1152973	2	1	270	1	0	0	0	0	0	0	0	1	13962	1103	39	1		1	SDF4	1	1152973	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	32519	1152973	248097648	2	133502											
CPSF3L	54973	broad.mit.edu	37	chr1	1250257	1250257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggaagtctcgctcccGgcagcgcttggagtcacgga	13	13	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1250257G>A	uc001aee.1	-	7	707	c.649C>T	c.(649-651)CGG>TGG	p.R217W	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.R223W|CPSF3L_uc009vjz.1_Missense_Mutation_p.R195W|CPSF3L_uc010nyj.1_Missense_Mutation_p.R188W|CPSF3L_uc001aeg.1_Missense_Mutation_p.R93W|CPSF3L_uc001aeh.1_Missense_Mutation_p.R116W|CPSF3L_uc001aei.1_Missense_Mutation_p.R119W|CPSF3L_uc001aej.1_Missense_Mutation_p.R44W|CPSF3L_uc001aek.1_5'UTR	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	217						Golgi apparatus|nucleus	hydrolase activity				0	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)		TCTCGCTCCCGGCAGCGCTTG	0.637													A	1250257	G	A	1250257	3	1	270	1	0	0	0	0	1	0	0	0	3827	1115	39	1	1197	1	CPSF3L	1	1250257	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	97284	1250257	248000364	3	133503											
MXRA8	54587	broad.mit.edu	37	chr1	1290256	1290256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgcagtgagaagtcaccgCgctcaaaggcatccgcgccc	11	15	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1290256C>T	uc001aew.2	-	5	786	c.755G>A	c.(754-756)CGC>CAC	p.R252H	MXRA8_uc001aex.3_Missense_Mutation_p.R252H|MXRA8_uc001aey.3_Missense_Mutation_p.R252H|MXRA8_uc010nyl.1_Missense_Mutation_p.R252H|MXRA8_uc001aez.2_Missense_Mutation_p.R151H|MXRA8_uc001afa.2_Missense_Mutation_p.R243H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	252	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0	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)		GAAGTCACCGCGCTCAAAGGC	0.692													T	1290256	C	T	1290256	3	4	270	1	0	0	0	0	1	0	0	0	10005	768	27	1	597	1	MXRA8	1	1290256	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	39999	1290256	247960365	4	133504											
SLC2A5	6518	broad.mit.edu	37	chr1	9107765	9107766	+	Frame_Shift_Del	DEL	AT	AT	-													gatcgcaggcacgatagaaaAtatgttgttgaacagcaagg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:9107764_9107765AAT>A	uc001apo.3	-	3	614_615	c.322_323ATT>T	c.(322-324)tttfs	p.F108fs	SLC2A5_uc010nzy.2_Frame_Shift_Del_p.F49fs|SLC2A5_uc010nzz.2_5'UTR|SLC2A5_uc010oaa.2_Frame_Shift_Del_p.F64fs|SLC2A5_uc010oac.2_Intron|SLC2A5_uc001app.4_Frame_Shift_Del_p.F108fs	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	108					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)		CACGATAGAAAATATGTTGTTG	0.401													-	9107766	AT	-	9107765	7	5	270	1	0	1	0	1	0	0	0	0	14548	101	4	0	1383	0	SLC2A5	1	9107765	Frame_Shift_Del	DEL	AT	TCGA-HU-A4GN-01A-11D-A25D-08	7817509	9107765	240142856	5	133505											
PIK3CD	5293	broad.mit.edu	37	chr1	9781280	9781280	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattgccacgtaggctccttCgccatcaagtcgctgcggaa	11	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:9781280C>T	uc001aqb.3	+	14	1993	c.1785C>T	c.(1783-1785)TTC>TTT	p.F595F	PIK3CD_uc010oaf.1_Silent_p.F594F|PIK3CD_uc001aqe.3_Silent_p.F619F	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	595					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			lung(4)|skin(2)|central_nervous_system(1)	7	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)		TAGGCTCCTTCGCCATCAAGT	0.652													T	9781280	C	T	9781280	2	4	270	1	0	0	0	0	0	0	0	1	11915	883	31	1		1	PIK3CD	1	9781280	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	673515	9781280	239469341	6	133506											
CLSTN1	22883	broad.mit.edu	37	chr1	9791937	9791937	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgttccatggggttggcCgtgtggattacattcaccta	13	9	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:9791937C>A	uc001aqh.2	-	17	3204	c.2445G>T	c.(2443-2445)ACG>ACT	p.T815T	CLSTN1_uc001aqi.2_Silent_p.T805T|CLSTN1_uc010oag.1_Silent_p.T796T|CLSTN1_uc001aqf.2_Silent_p.T51T	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	815	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGTTGGCCGTGTGGATTA	0.582													A	9791937	C	A	9791937	2	1	270	1	0	0	0	0	0	0	0	1	3561	639	23	5		5	CLSTN1	1	9791937	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	10657	9791937	239458684	7	133507											
KIF1B	23095	broad.mit.edu	37	chr1	10386200	10386200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacggctgtgtgaacgagCgccttgccgaccgcacaccc	11	17	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:10386200C>T	uc001aqx.3	+	27	2909	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C	KIF1B_uc001aqw.3_Missense_Mutation_p.R857C|KIF1B_uc001aqy.2_Missense_Mutation_p.R877C|KIF1B_uc001aqz.2_Missense_Mutation_p.R903C|KIF1B_uc001ara.2_Missense_Mutation_p.R863C|KIF1B_uc001arb.2_Missense_Mutation_p.R889C	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	903					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		TGTGAACGAGCGCCTTGCCGA	0.537													T	10386200	C	T	10386200	3	4	270	1	0	0	0	0	1	0	0	0	8284	768	27	1	4152	1	KIF1B	1	10386200	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	594263	10386200	238864421	8	133508											
PGD	5226	broad.mit.edu	37	chr1	10479510	10479510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagcactggggtccagGctggcattcccatgccctgt	12	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:10479510G>A	uc001arc.2	+	12	1336	c.1246G>A	c.(1246-1248)GCT>ACT	p.A416T	PGD_uc001ard.2_Missense_Mutation_p.A336T|PGD_uc010oak.1_Missense_Mutation_p.A394T|PGD_uc010oal.1_Missense_Mutation_p.A403T	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	416					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	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)		TGGGGTCCAGGCTGGCATTCC	0.572													A	10479510	G	A	10479510	3	1	270	1	0	0	0	0	1	0	0	0	11787	1203	42	2	1292	2	PGD	1	10479510	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	93310	10479510	238771111	9	133509											
UBIAD1	29914	broad.mit.edu	37	chr1	11333902	11333902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatttggtcaacacttactAtgacttttccaagggcattg	7	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:11333902A>G	uc001asg.2	+	1	648	c.314A>G	c.(313-315)TAT>TGT	p.Y105C		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	105					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AACACTTACTATGACTTTTCC	0.557													G	11333902	A	G	11333902	3	3	270	1	0	0	0	0	1	0	0	0	16882	449	16	3	316	3	UBIAD1	1	11333902	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	854392	11333902	237916719	10	133510											
C1orf187	374946	broad.mit.edu	37	chr1	11779718	11779718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtggagcccgagacgGccaacggcgaccagggatcc	16	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:11779718G>A	uc001asr.1	+	7	1155	c.1015G>A	c.(1015-1017)GCC>ACC	p.A339T	uc001ass.1_5'Flank	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	339					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	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;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		GCCCGAGACGGCCAACGGCGA	0.637											OREG0013102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	11779718	G	A	11779718	3	1	270	1	0	0	0	0	1	0	0	0	2021	1203	42	2	1037	2	C1orf187	1	11779718	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	445816	11779718	237470903	11	133511											
VPS13D	55187	broad.mit.edu	37	chr1	12387745	12387745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggttgtttaagaatgcGgaacctctgaagtctctttc	10	7	2	2	rs147189508		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:12387745G>A	uc001atv.2	+	36	8172	c.8031G>A	c.(8029-8031)GCG>GCA	p.A2677A	VPS13D_uc001atw.2_Silent_p.A2677A|VPS13D_uc001atx.2_Silent_p.A1865A|VPS13D_uc001aty.1_Silent_p.A415A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2677					protein localization					ovary(4)|pancreas(1)	5	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)		TTAAGAATGCGGAACCTCTGA	0.502													A	12387745	G	A	12387745	2	1	270	1	0	0	0	0	0	0	0	1	17189	1103	39	1		1	VPS13D	1	12387745	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	608027	12387745	236862876	12	133512											
VPS13D	55187	broad.mit.edu	37	chr1	12433859	12433859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggccattacctgtgcGgagctcgttttggatgtctc	11	10	1	0	rs151287134	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:12433859G>A	uc001atv.2	+	55	11004	c.10863G>A	c.(10861-10863)GCG>GCA	p.A3621A	VPS13D_uc001atw.2_Silent_p.A3596A|VPS13D_uc001atx.2_Silent_p.A2808A|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3620					protein localization					ovary(4)|pancreas(1)	5	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)		TTACCTGTGCGGAGCTCGTTT	0.323													A	12433859	G	A	12433859	2	1	270	1	0	0	0	0	0	0	0	1	17189	1103	39	1		1	VPS13D	1	12433859	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	46114	12433859	236816762	13	133513											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835827	12835827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggccgggtgggcagcaGcccttgatggtgatcctaga	15	11	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:12835827G>A	uc001aui.2	+	2	456	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	143										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		GTGGGCAGCAGCCCTTGATGG	0.547													A	12835827	G	A	12835827	2	1	270	1	0	0	0	0	0	0	0	1	12428	962	34	2		2	PRAMEF12	1	12835827	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	401968	12835827	236414794	14	133514											
PDPN	10630	broad.mit.edu	37	chr1	13910346	13910346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgcaaagtttgctgtcCggctgcctagggtctgggaa	13	10	1	0	rs113350533	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:13910346C>T	uc001avd.2	+	1	95	c.46C>T	c.(46-48)CGG>TGG	p.R16W	PDPN_uc001avc.2_Missense_Mutation_p.R16W|PDPN_uc009vob.2_5'Flank|PDPN_uc009voc.2_5'Flank|PDPN_uc001ave.2_5'Flank|PDPN_uc001avf.2_5'Flank	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	Error:Variant_position_missing_in_Q86YL7_after_alignment					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GTTTGCTGTCCGGCTGCCTAG	0.687													T	13910346	C	T	13910346	3	4	270	1	0	0	0	0	1	0	0	0	11688	643	23	1	48	1	PDPN	1	13910346	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1074519	13910346	235340275	15	133515											
CELA2A	63036	broad.mit.edu	37	chr1	15788097	15788097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggcaagtggtaccacacCtgcggagggtccctgatagc	13	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:15788097C>A	uc001awk.2	+	3	197	c.171C>A	c.(169-171)ACC>ACA	p.T57T		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	57	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GGTACCACACCTGCGGAGGGT	0.607													A	15788097	C	A	15788097	2	1	270	1	0	0	0	0	0	0	0	1	3211	668	24	5		5	CELA2A	1	15788097	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1877751	15788097	233462524	16	133516											
EPHA2	1969	broad.mit.edu	37	chr1	16459797	16459797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctttcagcgtcttgatgGccaccggcacctccttcttc	9	16	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:16459797G>A	uc001aya.1	-	11	2068	c.1931C>T	c.(1930-1932)GCC>GTC	p.A644V		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	644	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	CGTCTTGATGGCCACCGGCAC	0.612													A	16459797	G	A	16459797	3	1	270	1	0	0	0	0	1	0	0	0	5167	1203	42	2	1027	2	EPHA2	1	16459797	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	671700	16459797	232790824	17	133517											
EPHA2	1969	broad.mit.edu	37	chr1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-													acactcggctctgctgcggcGgggggatgctccaggagacg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	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)	TCTGCTGCGGCGGGGGGATGC	0.662													-	16462199	G	-	16462199	7	5	270	1	0	1	0	1	0	0	0	0	5167	1116	39	0	1599	0	EPHA2	1	16462199	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	2402	16462199	232788422	18	133518											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532039	16532039	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcgaggtacctccacCaacatcttgaggcgggtgat	10	14	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:16532039C>A	uc001ayc.1	-	9	1712	c.1575G>T	c.(1573-1575)TTG>TTT	p.L525F	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.L2F	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	525	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		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)		GTACCTCCACCAACATCTTGA	0.627													A	16532039	C	A	16532039	3	1	270	1	0	0	0	0	1	0	0	0	902	593	21	5	865	5	ARHGEF19	1	16532039	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	69840	16532039	232718582	19	133519											
ATP13A2	23400	broad.mit.edu	37	chr1	17322499	17322499	+	Frame_Shift_Del	DEL	C	C	-													aacacaccagctgcagcttgCcccccaggttgatgcgcagt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:17322498_17322498GC>G	uc001baa.2	-	14	1705	c.1515_1515GC>C	c.(1513-1515)ggcfs	p.G505fs	ATP13A2_uc001bac.2_Frame_Shift_Del_p.G500fs|ATP13A2_uc001bab.2_Frame_Shift_Del_p.G500fs|ATP13A2_uc009vpa.1_Frame_Shift_Del_p.G181fs|ATP13A2_uc001bad.1_Frame_Shift_Del_p.G218fs	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	505					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)		GCTGCAGCTTGCCCCCCAGGT	0.667													-	17322499	C	-	17322499	7	5	270	1	0	1	0	1	0	0	0	0	1124	739	26	0	2324	0	ATP13A2	1	17322499	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	790460	17322499	231928122	20	133520											
IGSF21	84966	broad.mit.edu	37	chr1	18661448	18661448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtgggcatctacgaccGcgccaccagggagaaggtgg	15	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:18661448G>A	uc001bau.1	+	4	751	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	123	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		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)		ATCTACGACCGCGCCACCAGG	0.622													A	18661448	G	A	18661448	3	1	270	1	0	0	0	0	1	0	0	0	7599	1087	38	1	382	1	IGSF21	1	18661448	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1338949	18661448	230589173	21	133521											
UBR4	23352	broad.mit.edu	37	chr1	19426940	19426940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatcttgttctttatatccCtcatcagcggcccgatgcct	6	13	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:19426940C>A	uc001bbi.2	-	89	13155	c.13151G>T	c.(13150-13152)AGG>ATG	p.R4384M	UBR4_uc010ocv.1_5'Flank|UBR4_uc009vph.2_Missense_Mutation_p.R18M|UBR4_uc010ocw.1_Missense_Mutation_p.R75M|UBR4_uc001bbg.2_Missense_Mutation_p.R95M|UBR4_uc001bbh.2_Missense_Mutation_p.R93M	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4384					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		CTTTATATCCCTCATCAGCGG	0.537													A	19426940	C	A	19426940	3	1	270	1	0	0	0	0	1	0	0	0	16901	681	24	5	2472	5	UBR4	1	19426940	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	765492	19426940	229823681	22	133522											
UBR4	23352	broad.mit.edu	37	chr1	19472403	19472403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccaactgcttctgcGgttccttcccttcatccatt	4	17	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:19472403G>A	uc001bbi.2	-	53	7833	c.7829C>T	c.(7828-7830)CCG>CTG	p.P2610L	UBR4_uc001bbk.1_Missense_Mutation_p.P292L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2610					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		CTGCTTCTGCGGTTCCTTCCC	0.418													A	19472403	G	A	19472403	3	1	270	1	0	0	0	0	1	0	0	0	16901	1116	39	1	7938	1	UBR4	1	19472403	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	45463	19472403	229778218	23	133523											
UBR4	23352	broad.mit.edu	37	chr1	19482887	19482887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagtgatccgaaacagagcCtgagctactaaaggtgagca	11	9	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:19482887C>A	uc001bbi.2	-	42	5954	c.5950G>T	c.(5950-5952)GGC>TGC	p.G1984C	UBR4_uc001bbl.1_Translation_Start_Site|UBR4_uc001bbm.1_Missense_Mutation_p.G1195C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1984					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		GAAACAGAGCCTGAGCTACTA	0.438													A	19482887	C	A	19482887	3	1	270	1	0	0	0	0	1	0	0	0	16901	681	24	5	9861	5	UBR4	1	19482887	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	10484	19482887	229767734	24	133524											
KIF17	57576	broad.mit.edu	37	chr1	20992758	20992758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctggcccgcttagatcGgaagtagttgctggcaatgt	14	9	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:20992758G>A	uc001bdr.3	-	14	2978	c.2860C>T	c.(2860-2862)CGA>TGA	p.R954*	KIF17_uc001bdp.3_Nonsense_Mutation_p.R231*|KIF17_uc001bdq.3_Nonsense_Mutation_p.R232*|KIF17_uc009vpx.2_Nonsense_Mutation_p.R324*|KIF17_uc001bds.3_Nonsense_Mutation_p.R953*	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	954					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		CGCTTAGATCGGAAGTAGTTG	0.607													A	20992758	G	A	20992758	4	1	270	1	0	0	0	0	0	1	0	0	8279	1124	39	1	237	1	KIF17	1	20992758	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1509871	20992758	228257863	25	133525											
RAP1GAP	5909	broad.mit.edu	37	chr1	21938056	21938056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtctgcccgtgggtcacGtccaggcctcctcggaacct	11	18	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:21938056G>A	uc001bex.2	-	13	990	c.732C>T	c.(730-732)GAC>GAT	p.D244D	RAP1GAP_uc001bev.2_Silent_p.D244D|RAP1GAP_uc001bew.2_Silent_p.D308D|RAP1GAP_uc001bey.2_Silent_p.D244D	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	244	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)|ovary(1)	3		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)		CGTGGGTCACGTCCAGGCCTC	0.662													A	21938056	G	A	21938056	2	1	270	1	0	0	0	0	0	0	0	1	13037	1136	40	1		1	RAP1GAP	1	21938056	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	945298	21938056	227312565	26	133526											
HSPG2	3339	broad.mit.edu	37	chr1	22160083	22160083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttgttctccaggcggcTgtcaggtggcaggctgccat	14	11	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:22160083T>C	uc001bfj.2	-	79	10895	c.10855A>G	c.(10855-10857)AGC>GGC	p.S3619G	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.S3620G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3619	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	TCCAGGCGGCTGTCAGGTGGC	0.647													C	22160083	T	C	22160083	3	2	270	1	0	0	0	0	1	0	0	0	7430	1580	55	3	2396	3	HSPG2	1	22160083	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	222027	22160083	227090538	27	133527											
HSPG2	3339	broad.mit.edu	37	chr1	22205552	22205552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgtggccttcatggcGtccccaaagaagccagcctt	12	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:22205552G>A	uc001bfj.2	-	18	2446	c.2406C>T	c.(2404-2406)GAC>GAT	p.D802D	HSPG2_uc009vqd.2_Silent_p.D803D	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	802	Laminin EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CCTTCATGGCGTCCCCAAAGA	0.617													A	22205552	G	A	22205552	2	1	270	1	0	0	0	0	0	0	0	1	7430	1136	40	1		1	HSPG2	1	22205552	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	45469	22205552	227045069	28	133528											
TCEB3	6924	broad.mit.edu	37	chr1	24078202	24078203	+	Frame_Shift_Del	DEL	AA	AA	-													gagaagggttctaacaacctAaagactccagaagggaaagt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:24078201_24078202TAA>T	uc001bho.3	+	3	1244_1245	c.1184_1185TAA>T	c.(1183-1185)ctafs	p.L395fs		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	395					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)		TCTAACAACCTAAAGACTCCAG	0.46											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	24078203	AA	-	24078202	7	5	270	1	0	1	0	1	0	0	0	0	15678	349	13	0	1199	0	TCEB3	1	24078202	Frame_Shift_Del	DEL	AA	TCGA-HU-A4GN-01A-11D-A25D-08	1872650	24078202	225172419	29	133529											
GRHL3	57822	broad.mit.edu	37	chr1	24669391	24669391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccatcaggcgtcaaggGctgcctgctgtcgggcttca	12	14	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:24669391G>A	uc001biy.2	+	11	1356	c.1310G>A	c.(1309-1311)GGC>GAC	p.G437D	GRHL3_uc001bix.2_Missense_Mutation_p.G432D|GRHL3_uc001biz.2_Missense_Mutation_p.G339D	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	432					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		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)		GGCGTCAAGGGCTGCCTGCTG	0.622													A	24669391	G	A	24669391	3	1	270	1	0	0	0	0	1	0	0	0	6765	1203	42	2	1373	2	GRHL3	1	24669391	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	591189	24669391	224581230	30	133530											
ARID1A	8289	broad.mit.edu	37	chr1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-													ataggttatatgcagaggaaCccccagatgccccagtacag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27088658_27088658AC>A	uc001bmv.1	+	6	2640	c.2267_2267AC>A	c.(2266-2268)aacfs	p.N756fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.N373fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	756					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	SWI/SNF complex|nBAF complex|npBAF 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)		ATGCAGAGGAACCCCCAGATG	0.512			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27088659	C	-	27088659	7	5	270	1	0	1	0	1	0	0	0	0	913	506	18	0	2294	0	ARID1A	1	27088659	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	2419268	27088659	222161962	31	133531											
ARID1A	8289	broad.mit.edu	37	chr1	27097630	27097630	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacaagaacaaaaaatgGcgggaacttgcaaccaacct	8	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27097630G>A	uc001bmv.1	+	12	3592	c.3219G>A	c.(3217-3219)TGG>TGA	p.W1073*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.W1073*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1073*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.W690*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1073	ARID.			W->A: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1096.	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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		ACAAAAAATGGCGGGAACTTG	0.488			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27097630	G	A	27097630	4	1	270	1	0	0	0	0	0	1	0	0	913	1212	42	2	3265	2	ARID1A	1	27097630	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	8971	27097630	222152991	32	133532											
ARID1A	8289	broad.mit.edu	37	chr1	27106078	27106078	+	Frame_Shift_Del	DEL	C	C	-													ggacaacagaccaggaggggCccccacctgatggacctcca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27106077_27106077GC>G	uc001bmv.1	+	19	6061	c.5688_5688GC>G	c.(5686-5688)gggfs	p.G1896fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1679fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G742fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G224fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G138fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1896					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	SWI/SNF complex|nBAF complex|npBAF 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)		ACCAGGAGGGGCCCCCACCTG	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106078	C	-	27106078	7	5	270	1	0	1	0	1	0	0	0	0	913	739	26	0	5767	0	ARID1A	1	27106078	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	8448	27106078	222144543	33	133533											
C1orf172	126695	broad.mit.edu	37	chr1	27278443	27278443	+	Frame_Shift_Del	DEL	G	G	-													cgctggccatcccgccggctGgggggtgcacgatcagggct							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27278442_27278442TG>T	uc001bni.2	-	1	523	c.430_430CA>A	c.(430-432)agcfs	p.S144fs	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	144										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)		TCCCGCCGGCTGGGGGGTGCA	0.632													-	27278443	G	-	27278443	7	5	270	1	0	1	0	1	0	0	0	0	2013	1335	47	0	779	0	C1orf172	1	27278443	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	172365	27278443	221972178	34	133534											
SYTL1	84958	broad.mit.edu	37	chr1	27673938	27673938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcctcagtggcagaccCtgggcagctgaagatcctga	14	13	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27673938C>A	uc001bnw.1	+	3	385	c.218C>A	c.(217-219)CCT>CAT	p.P73H	SYTL1_uc001bnv.1_Missense_Mutation_p.P73H|SYTL1_uc009vsu.1_Missense_Mutation_p.P73H|SYTL1_uc001bnx.2_Missense_Mutation_p.P73H|SYTL1_uc009vsv.1_Missense_Mutation_p.P73H	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	73	RabBD.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		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)		GTGGCAGACCCTGGGCAGCTG	0.498													A	27673938	C	A	27673938	3	1	270	1	0	0	0	0	1	0	0	0	15479	681	24	5	224	5	SYTL1	1	27673938	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	395495	27673938	221576683	35	133535											
AHDC1	27245	broad.mit.edu	37	chr1	27876334	27876334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccccggcccactcagcacCtgcctccccaaagcctgggc	8	21	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27876334C>A	uc009vsy.2	-	6	3262	c.2293G>T	c.(2293-2295)GGT>TGT	p.G765C	AHDC1_uc009vsz.1_Missense_Mutation_p.G765C	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	765	Gly-rich.						DNA binding			central_nervous_system(1)	1		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)		CACTCAGCACCTGCCTCCCCA	0.652													A	27876334	C	A	27876334	3	1	270	1	0	0	0	0	1	0	0	0	412	681	24	5	2522	5	AHDC1	1	27876334	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	202396	27876334	221374287	36	133536											
PHACTR4	65979	broad.mit.edu	37	chr1	28800273	28800273	+	Frame_Shift_Del	DEL	C	C	-													gatctcacctcgctctccgtCccccccactgcctactcata							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:28800272_28800272TC>T	uc001bpy.3	+	5	1295	c.1060_1060TC>T	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512													-	28800273	C	-	28800273	7	5	270	1	0	1	0	1	0	0	0	0	11812	855	30	0	1103	0	PHACTR4	1	28800273	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	923939	28800273	220450348	37	133537											
HCRTR1	3061	broad.mit.edu	37	chr1	32090630	32090630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccgccaagccagtgaccGcgaagctgtctacgcctgct	11	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:32090630G>A	uc009vtx.2	+	8	1383	c.998G>A	c.(997-999)CGC>CAC	p.R333H	HCRTR1_uc001btb.2_Missense_Mutation_p.R158H|HCRTR1_uc001btc.3_Missense_Mutation_p.R247H|HCRTR1_uc001btd.2_Missense_Mutation_p.R333H|HCRTR1_uc010ogl.1_Missense_Mutation_p.R333H	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	333	Extracellular (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCCAGTGACCGCGAAGCTGTC	0.597													A	32090630	G	A	32090630	3	1	270	1	0	0	0	0	1	0	0	0	7001	1087	38	1	1020	1	HCRTR1	1	32090630	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3290357	32090630	217159991	38	133538											
RBBP4	5928	broad.mit.edu	37	chr1	33134427	33134427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaacccaaatctcagtgGgcacttacttagtgcttcag	9	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:33134427G>T	uc001bvr.2	+	5	731	c.572G>T	c.(571-573)GGG>GTG	p.G191V	RBBP4_uc001bvs.2_Missense_Mutation_p.G190V|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.G156V	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	191	WD 2.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATCTCAGTGGGCACTTACTT	0.483													T	33134427	G	T	33134427	3	4	270	1	0	0	0	0	1	0	0	0	13101	1232	43	5	590	5	RBBP4	1	33134427	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1043797	33134427	216116194	39	133539											
KIAA1522	57648	broad.mit.edu	37	chr1	33237694	33237694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcctcaacggccagtTtcatcttctccaagggctct	7	17	5	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:33237694T>C	uc001bvv.2	+	6	2873	c.2737T>C	c.(2737-2739)TTC>CTC	p.F913L	KIAA1522_uc001bvu.1_Missense_Mutation_p.F972L|KIAA1522_uc010ohm.1_Missense_Mutation_p.F924L|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	913	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AACGGCCAGTTTCATCTTCTC	0.657													C	33237694	T	C	33237694	3	2	270	1	0	0	0	0	1	0	0	0	8238	1841	64	3	2936	3	KIAA1522	1	33237694	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	103267	33237694	216012927	40	133540											
DLGAP3	58512	broad.mit.edu	37	chr1	35334674	35334674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtcacactattggagcGcttgaaccttgctcgcctgg	11	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:35334674G>A	uc001byc.2	-	7	2017	c.2017C>T	c.(2017-2019)CGC>TGC	p.R673C		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	673					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CTATTGGAGCGCTTGAACCTT	0.632													A	35334674	G	A	35334674	3	1	270	1	0	0	0	0	1	0	0	0	4561	1087	38	1	938	1	DLGAP3	1	35334674	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2096980	35334674	213915947	41	133541											
DLGAP3	58512	broad.mit.edu	37	chr1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-													ccttgccaccggtggggtaaCccccccagtcatcttgcggc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					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)				CGGTGGGGTAACCCCCCCAGT	0.607													-	35365852	C	-	35365852	7	5	270	1	0	1	0	1	0	0	0	0	4561	507	18	0	1845	0	DLGAP3	1	35365852	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	31178	35365852	213884769	42	133542											
MACF1	23499	broad.mit.edu	37	chr1	39797522	39797522	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttccgtgcagttcaggaAgggctaatagataggcaggt	13	6	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:39797522A>T	uc010oiu.1	+	1	713	c.582A>T	c.(580-582)GAA>GAT	p.E194D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1759					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			CAGTTCAGGAAGGGCTAATAG	0.488													T	39797522	A	T	39797522	3	4	270	1	0	0	0	0	1	0	0	0	9144	69	3	5	5353	5	MACF1	1	39797522	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	4431670	39797522	209453099	43	133543											
NT5C1A	84618	broad.mit.edu	37	chr1	40131256	40131256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttgttagtcatgaggaCgatgtcgaagacgtcctcac	12	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:40131256C>T	uc001cdq.1	-	3	370	c.370G>A	c.(370-372)GTC>ATC	p.V124I		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	124					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			ovary(1)	1	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)			GTCATGAGGACGATGTCGAAG	0.582													T	40131256	C	T	40131256	3	4	270	1	0	0	0	0	1	0	0	0	10685	536	19	1	752	1	NT5C1A	1	40131256	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	333734	40131256	209119365	44	133544											
OXCT2	64064	broad.mit.edu	37	chr1	40236095	40236095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatcgttaagcgctcaattCgtttctcgtatttctgcccc	8	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:40236095C>T	uc001ceb.1	-	1	926	c.833G>A	c.(832-834)CGA>CAA	p.R278Q	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.R272Q	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2 precursor	278					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			pancreas(1)	1	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)	GCGCTCAATTCGTTTCTCGTA	0.517											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40236095	C	T	40236095	3	4	270	1	0	0	0	0	1	0	0	0	11330	884	31	1	724	1	OXCT2	1	40236095	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	104839	40236095	209014526	45	133545											
SLFNL1	200172	broad.mit.edu	37	chr1	41486228	41486228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgaggtcagagtactcCgtcagggactgctctgcggg	14	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:41486228C>T	uc001cgm.1	-	2	325	c.105G>A	c.(103-105)ACG>ACA	p.T35T	SLFNL1_uc009vwf.1_Silent_p.T35T|SLFNL1_uc001cgn.1_Silent_p.T35T|SLFNL1_uc009vwg.1_Silent_p.T35T	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	35							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGAGTACTCCGTCAGGGACT	0.622													T	41486228	C	T	41486228	2	4	270	1	0	0	0	0	0	0	0	1	14738	639	23	1		1	SLFNL1	1	41486228	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1250133	41486228	207764393	46	133546											
HIVEP3	59269	broad.mit.edu	37	chr1	42049025	42049025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccttggcttcacgctgtCgatctcgctggtgtccacca	10	16	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:42049025C>T	uc001cgz.3	-	4	2657	c.1444G>A	c.(1444-1446)GAC>AAC	p.D482N	HIVEP3_uc001cha.3_Missense_Mutation_p.D482N|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	482	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCACGCTGTCGATCTCGCTG	0.612													T	42049025	C	T	42049025	3	4	270	1	0	0	0	0	1	0	0	0	7188	884	31	1	5800	1	HIVEP3	1	42049025	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	562797	42049025	207201596	47	133547											
CCDC30	728621	broad.mit.edu	37	chr1	43032075	43032075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaactcagctgaaaatgagCttcgatatgaacgagggcag	12	8	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43032075C>T	uc009vwk.1	+	6	894	c.784C>T	c.(784-786)CTT>TTT	p.L262F	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Missense_Mutation_p.L51F|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.L76F	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	262	Potential.										0						TGAAAATGAGCTTCGATATGA	0.403													T	43032075	C	T	43032075	3	4	270	1	0	0	0	0	1	0	0	0	2805	797	28	2	802	2	CCDC30	1	43032075	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	983050	43032075	206218546	48	133548											
CLDN19	149461	broad.mit.edu	37	chr1	43204116	43204116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgaagagggctccccCggcgatggcaacacggccct	14	14	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43204116C>T	uc001cht.1	-	2	555	c.364G>A	c.(364-366)GGG>AGG	p.G122R	CLDN19_uc001chu.2_Missense_Mutation_p.G122R|CLDN19_uc010ojv.1_Missense_Mutation_p.G122R	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	122	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCTCCCCCGGCGATGGCA	0.657													T	43204116	C	T	43204116	3	4	270	1	0	0	0	0	1	0	0	0	3480	652	23	1	442	1	CLDN19	1	43204116	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	172041	43204116	206046505	49	133549											
TIE1	7075	broad.mit.edu	37	chr1	43774660	43774660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcctttctccccagaccGgatcccccagatcctcaaca	6	18	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43774660G>A	uc001ciu.2	+	8	1125	c.1046G>A	c.(1045-1047)CGG>CAG	p.R349Q	TIE1_uc010okd.1_Missense_Mutation_p.R349Q|TIE1_uc010oke.1_Missense_Mutation_p.R304Q|TIE1_uc009vwq.2_Missense_Mutation_p.R305Q|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	349	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCCAGACCGGATCCCCCAG	0.587													A	43774660	G	A	43774660	3	1	270	1	0	0	0	0	1	0	0	0	15890	1116	39	1	1076	1	TIE1	1	43774660	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	570544	43774660	205475961	50	133550											
KIAA0467	23334	broad.mit.edu	37	chr1	43896975	43896975	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatttccacgatccccAgggcagccatcatctttaag	7	14	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43896975A>G	uc001cjk.1	+	19	2721	c.2259A>G	c.(2257-2259)CCA>CCG	p.P753P		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1652						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACGATCCCCAGGGCAGCCAT	0.522													G	43896975	A	G	43896975	2	3	270	1	0	0	0	0	0	0	0	1	8178	175	7	3		3	KIAA0467	1	43896975	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	122315	43896975	205353646	51	133551											
KIAA0467	23334	broad.mit.edu	37	chr1	43908165	43908165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgggggcagcattgggccGagcgctggttcgcctggtgc	18	12	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43908165G>A	uc001cjk.1	+	43	5792	c.5330G>A	c.(5329-5331)CGA>CAA	p.R1777Q		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2676						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCATTGGGCCGAGCGCTGGTT	0.602													A	43908165	G	A	43908165	3	1	270	1	0	0	0	0	1	0	0	0	8178	1058	37	1	5492	1	KIAA0467	1	43908165	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	11190	43908165	205342456	52	133552											
SLC6A9	6536	broad.mit.edu	37	chr1	44467245	44467245	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggatggagaagatgacGaagccagcatagacgctggt	15	8	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:44467245G>A	uc001cll.2	-	9	1428	c.1236C>T	c.(1234-1236)TTC>TTT	p.F412F	SLC6A9_uc009vxe.2_Silent_p.F268F|SLC6A9_uc010okm.1_Silent_p.F339F|SLC6A9_uc001clm.2_Silent_p.F358F|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.F343F|SLC6A9_uc001cln.2_Silent_p.F339F|SLC6A9_uc010oko.1_Silent_p.F228F|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	412	Helical; Name=7; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGAAGATGACGAAGCCAGCAT	0.587													A	44467245	G	A	44467245	2	1	270	1	0	0	0	0	0	0	0	1	14691	1049	37	1		1	SLC6A9	1	44467245	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	559080	44467245	204783376	53	133553											
TESK2	10420	broad.mit.edu	37	chr1	45811603	45811603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcttcttcctgtaggcGgctcagaatttcctccaggg	10	13	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:45811603G>A	uc001cns.1	-	10	1346	c.943C>T	c.(943-945)CGC>TGC	p.R315C	TESK2_uc009vxr.1_Missense_Mutation_p.R286C|TESK2_uc010olo.1_Missense_Mutation_p.R232C|TESK2_uc009vxs.1_Missense_Mutation_p.R107C	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	315					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					TCCTGTAGGCGGCTCAGAATT	0.547													A	45811603	G	A	45811603	3	1	270	1	0	0	0	0	1	0	0	0	15765	1116	39	1	780	1	TESK2	1	45811603	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1344358	45811603	203439018	54	133554											
MOBKL2C	148932	broad.mit.edu	37	chr1	47078943	47078943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctcaaagcgcttccgCggccggaacgtcttgtcctt	11	16	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:47078943C>T	uc001cqf.3	-	2	282	c.51G>A	c.(49-51)CCG>CCA	p.P17P	MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Silent_p.P69P	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	17							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGCGCTTCCGCGGCCGGAACG	0.647													T	47078943	C	T	47078943	2	4	270	1	0	0	0	0	0	0	0	1	9686	755	27	1		1	MOBKL2C	1	47078943	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1267340	47078943	202171678	55	133555											
FOXD2	2306	broad.mit.edu	37	chr1	47904538	47904538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccggagctgctgctgcGtggcggggccgcggcggcgg	20	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:47904538G>A	uc001crm.2	+	1	2850	c.731G>A	c.(730-732)CGT>CAT	p.R244H		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	244	Pro-rich.				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				0				READ - Rectum adenocarcinoma(2;0.0908)		CTGCTGCTGCGTggcggggcc	0.637													A	47904538	G	A	47904538	3	1	270	1	0	0	0	0	1	0	0	0	5997	1145	40	1	733	1	FOXD2	1	47904538	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	825595	47904538	201346083	56	133556											
BEND5	79656	broad.mit.edu	37	chr1	49224924	49224924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctcgatgctcttgtgCgccacttcgctcggcttccg	10	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:49224924C>T	uc001crx.3	-	3	437	c.393G>A	c.(391-393)GCG>GCA	p.A131A	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_5'UTR	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	131										skin(1)	1						TGCTCTTGTGCGCCACTTCGC	0.587													T	49224924	C	T	49224924	2	4	270	1	0	0	0	0	0	0	0	1	1401	755	27	1		1	BEND5	1	49224924	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1320386	49224924	200025697	57	133557											
DMRTA2	63950	broad.mit.edu	37	chr1	50884936	50884936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgctcgatggcctgcaCcacgtcgccgccgcagccct	10	20	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:50884936C>T	uc010ona.1	-	2	1126	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	DMRTA2_uc010onb.1_Missense_Mutation_p.V344M	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	344	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						ATGGCCTGCACCACGTCGCCG	0.726													T	50884936	C	T	50884936	3	4	270	1	0	0	0	0	1	0	0	0	4589	507	18	4	602	4	DMRTA2	1	50884936	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1660012	50884936	198365685	58	133558											
FAF1	11124	broad.mit.edu	37	chr1	50941230	50941230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctggagcttgttgctgGccaggaaacgccgctccaag	12	12	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:50941230G>A	uc009vyx.1	-	19	1838	c.1775C>T	c.(1774-1776)GCC>GTC	p.A592V	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.A592V|FAF1_uc010onc.1_Missense_Mutation_p.A350V	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	592	UBX.				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			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTTGTTGCTGGCCAGGAAACG	0.517													A	50941230	G	A	50941230	3	1	270	1	0	0	0	0	1	0	0	0	5369	1203	42	2	185	2	FAF1	1	50941230	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	56294	50941230	198309391	59	133559											
CYB5RL	606495	broad.mit.edu	37	chr1	54661202	54661202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggtgagcagccactgcCgcagcactgggaaggcaagg	16	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:54661202C>T	uc009vzo.2	-	3	408	c.88G>A	c.(88-90)GGC>AGC	p.G30S	CYB5RL_uc001cww.2_5'UTR|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_5'UTR	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	30							cytochrome-b5 reductase activity				0						CAGCCACTGCCGCAGCACTGG	0.622													T	54661202	C	T	54661202	3	4	270	1	0	0	0	0	1	0	0	0	4130	652	23	1	883	1	CYB5RL	1	54661202	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3719972	54661202	194589419	60	133560											
INADL	10207	broad.mit.edu	37	chr1	62263064	62263066	+	In_Frame_Del	DEL	TCA	TCA	-													tagttcgaaggaagacatccTcatctacttctccacttgaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:62263063_62263065CTCA>C	uc001dab.3	+	10	1479_1481	c.1365_1367CTCA>C	c.(1363-1368)tcctca>tcCa	p.455_456SS>S	INADL_uc009waf.1_In_Frame_Del_p.455_456SS>S|INADL_uc001daa.2_In_Frame_Del_p.455_456SS>S|INADL_uc001dad.3_In_Frame_Del_p.152_153SS>S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	455					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.S455P(1)		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						GGAAGACATCCTCATCTACTTCT	0.443													-	62263066	TCA	-	62263064	7	5	270	1	0	1	0	1	0	0	0	0	7731	1551	54	0	1404	0	INADL	1	62263064	In_Frame_Del	DEL	TCA	TCGA-HU-A4GN-01A-11D-A25D-08	7601862	62263064	186987557	61	133561											
LEPR	3953	broad.mit.edu	37	chr1	66102159	66102159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaccctttgttaaatacGccacgctgatcagcaactct	6	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:66102159G>A	uc001dci.2	+	20	3161	c.2959G>A	c.(2959-2961)GCC>ACC	p.A987T	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	987	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTAAATACGCCACGCTGAT	0.428													A	66102159	G	A	66102159	3	1	270	1	0	0	0	0	1	0	0	0	8728	1087	38	1	3259	1	LEPR	1	66102159	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3839095	66102159	183148462	62	133562											
PTGER3	5733	broad.mit.edu	37	chr1	71512649	71512649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgaagcaccacgtcccGggccactggacggtgtactg	13	13	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:71512649G>A	uc001dfg.1	-	1	843	c.612C>T	c.(610-612)CCC>CCT	p.P204P	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.P204P|PTGER3_uc001dfl.1_Silent_p.P204P|PTGER3_uc009wbm.1_Silent_p.P204P|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.P204P|PTGER3_uc009wbn.1_Silent_p.P204P|PTGER3_uc009wbo.2_Silent_p.P204P|PTGER3_uc001dfo.2_Silent_p.P204P|PTGER3_uc001dfp.1_Silent_p.P204P|PTGER3_uc001dfq.2_Silent_p.P204P|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	204	Extracellular (Potential).				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			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	ACCACGTCCCGGGCCACTGGA	0.682													A	71512649	G	A	71512649	2	1	270	1	0	0	0	0	0	0	0	1	12744	1103	39	1		1	PTGER3	1	71512649	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5410490	71512649	177737972	63	133563											
TNNI3K	51086	broad.mit.edu	37	chr1	74834918	74834918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaaagtatataaaggacGatgcagaaataaaatagtgg	12	2	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:74834918G>A	uc001dgf.1	+	15	1493	c.1442G>A	c.(1441-1443)CGA>CAA	p.R481Q	TNNI3K_uc001dgc.1_Missense_Mutation_p.R582Q|TNNI3K_uc001dgd.2_Missense_Mutation_p.R582Q|TNNI3K_uc001dge.1_Missense_Mutation_p.R582Q	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	481	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TATAAAGGACGATGCAGAAAT	0.313													A	74834918	G	A	74834918	3	1	270	1	0	0	0	0	1	0	0	0	16326	1058	37	1	1855	1	TNNI3K	1	74834918	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3322269	74834918	174415703	64	133564											
SLC44A5	204962	broad.mit.edu	37	chr1	75679471	75679471	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgaagaataggaaggcCagaacacctacattgaaaag	11	6	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:75679471C>A	uc001dgu.2	-	22	2025	c.1881G>T	c.(1879-1881)CTG>CTT	p.L627L	SLC44A5_uc001dgt.2_Silent_p.L627L|SLC44A5_uc001dgs.2_Silent_p.L585L|SLC44A5_uc001dgr.2_Silent_p.L585L|SLC44A5_uc010oqz.1_Silent_p.L666L|SLC44A5_uc010ora.1_Silent_p.L621L|SLC44A5_uc010orb.1_Silent_p.L497L	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	627	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						ATAGGAAGGCCAGAACACCTA	0.348													A	75679471	C	A	75679471	2	1	270	1	0	0	0	0	0	0	0	1	14639	581	21	5		5	SLC44A5	1	75679471	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	844553	75679471	173571150	65	133565											
LRRC8B	23507	broad.mit.edu	37	chr1	90049769	90049769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactttatctttcgggctgTgttctccctgaacagttgag	10	9	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:90049769T>C	uc001dni.2	+	7	2067	c.1560T>C	c.(1558-1560)TGT>TGC	p.C520C	LRRC8B_uc001dnh.2_Silent_p.C520C|LRRC8B_uc001dnj.2_Silent_p.C520C	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	520	LRR 3.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTTCGGGCTGTGTTCTCCCTG	0.443													C	90049769	T	C	90049769	2	2	270	1	0	0	0	0	0	0	0	1	9022	1702	59	3		3	LRRC8B	1	90049769	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	14370298	90049769	159200852	66	133566											
ABCA4	24	broad.mit.edu	37	chr1	94528700	94528700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattggttttctccaccacGtctatgtccattcggatctt	6	11	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:94528700G>A	uc001dqh.2	-	12	1832	c.1728C>T	c.(1726-1728)GAC>GAT	p.D576D	ABCA4_uc010otn.1_Silent_p.D576D	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	576	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		TCTCCACCACGTCTATGTCCA	0.463													A	94528700	G	A	94528700	2	1	270	1	0	0	0	0	0	0	0	1	34	1136	40	1		1	ABCA4	1	94528700	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4478931	94528700	154721921	67	133567											
FNDC7	163479	broad.mit.edu	37	chr1	109270660	109270660	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtccgaggcagcaatatgTcatgtactccccagttcata	8	11	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:109270660T>C	uc001dvx.2	+	7	1342	c.1342T>C	c.(1342-1344)TCA>CCA	p.S448P	FNDC7_uc010ova.1_Missense_Mutation_p.S215P	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	449	Fibronectin type-III 5.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAGCAATATGTCATGTACTCC	0.488													C	109270660	T	C	109270660	3	2	270	1	0	0	0	0	1	0	0	0	5973	1667	58	3	1368	3	FNDC7	1	109270660	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	14741960	109270660	139979961	68	133568											
CELSR2	1952	broad.mit.edu	37	chr1	109793888	109793889	+	Frame_Shift_Ins	INS	-	-	C													gaggatgacaatgataatgcINScccccagtttagtgagaagc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:109793887_109793888G>GC	uc001dxa.4	+	0	1247_1248	c.1186_1187G>GC	c.(1186-1188)gccfs	p.A396fs		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	396	Cadherin 2.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		CAATGATAATGCCCCCCAGTTT	0.589													C	109793889	-	C	109793888	7	5	270	1	0	1	1	0	0	0	0	0	3222	739	26	0	1189	0	CELSR2	1	109793888	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	523228	109793888	139456733	69	133569											
CELSR2	1952	broad.mit.edu	37	chr1	109794458	109794458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagaagctcgagaccatgGcactccagcactcactgcct	10	14	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:109794458G>A	uc001dxa.3	+	1	1818	c.1757G>A	c.(1756-1758)GGC>GAC	p.G586D		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	586	Cadherin 4.|Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		CGAGACCATGGCACTCCAGCA	0.542													A	109794458	G	A	109794458	3	1	270	1	0	0	0	0	1	0	0	0	3222	1203	42	2	1759	2	CELSR2	1	109794458	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	570	109794458	139456163	70	133570											
GNAT2	2780	broad.mit.edu	37	chr1	110155418	110155418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcttccttatcagcatcCtcctgcagcttcttttctag	6	13	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110155418C>A	uc001dya.2	-	1	288	c.75G>T	c.(73-75)GAG>GAT	p.E25D		NM_005272	NP_005263	P19087	GNAT2_HUMAN	guanine nucleotide binding protein, alpha	25					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TATCAGCATCCTCCTGCAGCT	0.512													A	110155418	C	A	110155418	3	1	270	1	0	0	0	0	1	0	0	0	6512	680	24	5	1021	5	GNAT2	1	110155418	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	360960	110155418	139095203	71	133571											
GNAT2	2780	broad.mit.edu	37	chr1	110155446	110155446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcttcttttctagctccttgGacctcttggccagttctttg	8	12	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110155446G>T	uc001dya.2	-	1	260	c.47C>A	c.(46-48)TCC>TAC	p.S16Y		NM_005272	NP_005263	P19087	GNAT2_HUMAN	guanine nucleotide binding protein, alpha	16					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TAGCTCCTTGGACCTCTTGGC	0.512													T	110155446	G	T	110155446	3	4	270	1	0	0	0	0	1	0	0	0	6512	1174	41	5	1049	5	GNAT2	1	110155446	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	28	110155446	139095175	72	133572											
EPS8L3	79574	broad.mit.edu	37	chr1	110293322	110293322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccagccgggacaggattCgtggggcctcctgtggacat	14	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110293322C>T	uc001dyr.1	-	18	1875	c.1730G>A	c.(1729-1731)CGA>CAA	p.R577Q	EPS8L3_uc001dys.1_Missense_Mutation_p.R547Q|EPS8L3_uc001dyq.1_Missense_Mutation_p.R578Q|EPS8L3_uc009wfm.1_Missense_Mutation_p.R514Q	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	577						cytoplasm	protein binding			ovary(2)|skin(1)	3		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)		GGACAGGATTCGTGGGGCCTC	0.607													T	110293322	C	T	110293322	3	4	270	1	0	0	0	0	1	0	0	0	5197	884	31	1	59	1	EPS8L3	1	110293322	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	137876	110293322	138957299	73	133573											
EPS8L3	79574	broad.mit.edu	37	chr1	110300972	110300972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctcgggggaagaggacCgccttggaggaggcagagta	19	8	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110300972C>T	uc001dyr.1	-	8	828	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	EPS8L3_uc001dys.1_Missense_Mutation_p.R228Q|EPS8L3_uc001dyq.1_Missense_Mutation_p.R229Q|EPS8L3_uc009wfm.1_Missense_Mutation_p.R195Q|EPS8L3_uc009wfn.1_Missense_Mutation_p.R203Q|EPS8L3_uc009wfo.1_Missense_Mutation_p.R175Q	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	228	Pro-rich.					cytoplasm	protein binding			ovary(2)|skin(1)	3		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)		GGAAGAGGACCGCCTTGGAGG	0.617													T	110300972	C	T	110300972	3	4	270	1	0	0	0	0	1	0	0	0	5197	652	23	1	1146	1	EPS8L3	1	110300972	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7650	110300972	138949649	74	133574											
KCNC4	3749	broad.mit.edu	37	chr1	110765712	110765712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtagggaacatcaccagcGtgcacttccggcgggaggta	15	11	1	0	rs144762287	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110765712G>A	uc001dzh.2	+	2	862	c.805G>A	c.(805-807)GTG>ATG	p.V269M	KCNC4_uc001dzf.2_Missense_Mutation_p.V269M|KCNC4_uc009wfr.2_Missense_Mutation_p.V269M|KCNC4_uc001dzg.2_Missense_Mutation_p.V269M|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	269					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CATCACCAGCGTGCACTTCCG	0.572													A	110765712	G	A	110765712	3	1	270	1	0	0	0	0	1	0	0	0	8017	1145	40	1	811	1	KCNC4	1	110765712	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	464740	110765712	138484909	75	133575											
HBXIP	10542	broad.mit.edu	37	chr1	110946654	110946654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcatctgacagggtcccGcggcctggaaaatagagatg	13	10	2	2	rs149410124		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110946654G>A	uc001dzr.2	-	3	406	c.348C>T	c.(346-348)CGC>CGT	p.R116R		NM_006402	NP_006393	O43504	HBXIP_HUMAN	hepatitis B virus x-interacting protein	34					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			large_intestine(1)|ovary(1)|pancreas(1)	3		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACAGGGTCCCGCGGCCTGGAA	0.448													A	110946654	G	A	110946654	2	1	270	1	0	0	0	0	0	0	0	1	6988	1074	38	1		1	HBXIP	1	110946654	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	180942	110946654	138303967	76	133576											
KCNA3	3738	broad.mit.edu	37	chr1	111216557	111216557	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaccacgaagaagggatcgGagaagctggaggctcctgcg	15	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:111216557G>C	uc001dzv.1	-	1	1099	c.875C>G	c.(874-876)TCC>TGC	p.S292C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	292						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		GAAGGGATCGGAGAAGCTGGA	0.612													C	111216557	G	C	111216557	3	2	270	1	0	0	0	0	1	0	0	0	8004	1174	41	5	856	5	KCNA3	1	111216557	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	269903	111216557	138034064	77	133577											
ST7L	54879	broad.mit.edu	37	chr1	113093294	113093294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatgtcctttctctaacGggtatggaatcattctaaaa	7	7	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:113093294G>A	uc001ecd.2	-	13	1723	c.1418C>T	c.(1417-1419)CCG>CTG	p.P473L	ST7L_uc009wgh.2_RNA|ST7L_uc001ecc.2_Missense_Mutation_p.P290L|ST7L_uc010owg.1_Missense_Mutation_p.P408L|ST7L_uc010owh.1_Missense_Mutation_p.P267L|ST7L_uc001ece.2_Intron|ST7L_uc001ecf.2_Missense_Mutation_p.P456L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.P408L|ST7L_uc001ech.2_Missense_Mutation_p.P456L|ST7L_uc001eci.2_Missense_Mutation_p.P473L|ST7L_uc009wgi.1_Intron|ST7L_uc010owj.1_3'UTR	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	473					negative regulation of cell growth	integral to membrane	binding				0	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)		TTTCTCTAACGGGTATGGAAT	0.338													A	113093294	G	A	113093294	3	1	270	1	0	0	0	0	1	0	0	0	15229	1116	39	1	360	1	ST7L	1	113093294	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1876737	113093294	136157327	78	133578											
PHTF1	10745	broad.mit.edu	37	chr1	114254420	114254420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagactatctgaatccCgcacaatatgacaccacctt	5	15	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:114254420C>T	uc009wgp.1	-	9	1447	c.995G>A	c.(994-996)CGG>CAG	p.R332Q	PHTF1_uc001edn.2_Missense_Mutation_p.R332Q|PHTF1_uc001edm.2_Missense_Mutation_p.R89Q|PHTF1_uc001edo.1_Missense_Mutation_p.R89Q	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)		ATCTGAATCCCGCACAATATG	0.368													T	114254420	C	T	114254420	3	4	270	1	0	0	0	0	1	0	0	0	11862	652	23	1	1333	1	PHTF1	1	114254420	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1161126	114254420	134996201	79	133579											
AMPD1	270	broad.mit.edu	37	chr1	115229524	115229524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcttccgtccttggaaacGcttttttctgggttcgaaat	9	9	2	0	rs12566550		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:115229524G>A	uc001efe.1	-	4	307	c.223C>T	c.(223-225)CGT>TGT	p.R75C	AMPD1_uc001eff.1_Missense_Mutation_p.R71C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	75					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	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)	CCTTGGAAACGCTTTTTTCTG	0.353													A	115229524	G	A	115229524	3	1	270	1	0	0	0	0	1	0	0	0	585	1087	38	1	2072	1	AMPD1	1	115229524	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	975104	115229524	134021097	80	133580											
WARS2	10352	broad.mit.edu	37	chr1	119575732	119575732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgagcagtgttcatgccCgcgctgcggcgcaccacttc	12	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:119575732C>T	uc001ehn.2	-	6	913	c.885G>A	c.(883-885)GCG>GCA	p.A295A	WARS2_uc010oxf.1_Silent_p.A201A|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.A238A|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	295					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	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)	TGTTCATGCCCGCGCTGCGGC	0.597													T	119575732	C	T	119575732	2	4	270	1	0	0	0	0	0	0	0	1	17247	639	23	1		1	WARS2	1	119575732	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4346208	119575732	129674889	81	133581											
PDE4DIP	9659	broad.mit.edu	37	chr1	144915560	144915560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagcatcctttcctttCgctgtagacgctggcacagc	9	15	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:144915560C>T	uc001elw.3	-	14	2156	c.1865G>A	c.(1864-1866)CGA>CAA	p.R622Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R688Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R622Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R622Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R785Q|PDE4DIP_uc001eme.1_Missense_Mutation_p.R151Q|PDE4DIP_uc001emf.1_Missense_Mutation_p.R407Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	622	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTTCCTTTCGCTGTAGACG	0.493			T	PDGFRB	MPD								T	144915560	C	T	144915560	3	4	270	1	0	0	0	0	1	0	0	0	11643	884	31	1	5309	1	PDE4DIP	1	144915560	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	25339828	144915560	104335061	82	133582											
TARS2	80222	broad.mit.edu	37	chr1	150463092	150463092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgttctggcactccAgcacccatgtcctgggggca	12	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:150463092A>G	uc001euq.2	+	4	410	c.403A>G	c.(403-405)AGC>GGC	p.S135G	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.2_Missense_Mutation_p.S135G|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.S135G	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	135					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	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)	CTGGCACTCCAGCACCCATGT	0.488													G	150463092	A	G	150463092	3	3	270	1	0	0	0	0	1	0	0	0	15557	188	7	3	417	3	TARS2	1	150463092	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	5547532	150463092	98787529	83	133583											
CTSK	1513	broad.mit.edu	37	chr1	150769275	150769275	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatttggctggctggagTcacatcttggggaagctggc	16	7	2	0	rs74315301		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:150769275T>C	uc001evp.1	-	8	1114	c.990A>G	c.(988-990)TGA>TGG	p.*330W	CTSK_uc001evq.1_Nonstop_Mutation_p.*241W	NM_000396	NP_000387	P43235	CATK_HUMAN	cathepsin K preproprotein	330					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			skin(1)	1	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGCTGGAGTCACATCTTGG	0.498													C	150769275	T	C	150769275	4	2	270	1	0	0	0	0	0	0	0	0	4037	1680	58	3	3	3	CTSK	1	150769275	Nonstop_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	306183	150769275	98481346	84	133584											
BNIPL	149428	broad.mit.edu	37	chr1	151011319	151011319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtggccagcgccccatgCgcaagcgtctttctgcccca	11	16	2	0	rs138679997		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:151011319C>T	uc001ewl.2	+	4	423	c.250C>T	c.(250-252)CGC>TGC	p.R84C	BNIPL_uc009wmi.2_Missense_Mutation_p.R2C|BNIPL_uc009wmj.2_RNA	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	84					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	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)			GCGCCCCATGCGCAAGCGTCT	0.587													T	151011319	C	T	151011319	3	4	270	1	0	0	0	0	1	0	0	0	1480	768	27	1	264	1	BNIPL	1	151011319	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	242044	151011319	98239302	85	133585											
POGZ	23126	broad.mit.edu	37	chr1	151378412	151378412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgctgggttagcacccaCtcagccagtttctcttctgc	9	15	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:151378412C>T	uc001eyd.1	-	19	3405	c.3099G>A	c.(3097-3099)GAG>GAA	p.E1033E	POGZ_uc001eye.1_Silent_p.E980E|POGZ_uc010pdb.1_Silent_p.E1024E|POGZ_uc001eyf.1_Silent_p.E989E|POGZ_uc010pdc.1_Silent_p.E971E|POGZ_uc009wmv.1_Silent_p.E938E|POGZ_uc010pdd.1_Silent_p.E524E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1033	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	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)			TTAGCACCCACTCAGCCAGTT	0.522													T	151378412	C	T	151378412	2	4	270	1	0	0	0	0	0	0	0	1	12186	564	20	4		4	POGZ	1	151378412	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	367093	151378412	97872209	86	133586											
CGN	57530	broad.mit.edu	37	chr1	151509232	151509232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtgaaggctttgaaGcgtcaggtggatgaagcaga	17	5	1	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:151509232G>A	uc009wmw.2	+	20	3477	c.3333G>A	c.(3331-3333)AAG>AAA	p.K1111K	CGN_uc010pde.1_Silent_p.K105K	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1105	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	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)			AGGCTTTGAAGCGTCAGGTGG	0.547													A	151509232	G	A	151509232	2	1	270	1	0	0	0	0	0	0	0	1	3303	962	34	2		2	CGN	1	151509232	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	130820	151509232	97741389	87	133587											
FLG	2312	broad.mit.edu	37	chr1	152280936	152280936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcctctgcttggcccCgggtgtccacgaatggtgtc	11	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:152280936C>T	uc001ezu.1	-	3	6462	c.6426G>A	c.(6424-6426)CCG>CCA	p.P2142P		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2142	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTTGGCCCCGGGTGTCCAC	0.572									Ichthyosis				T	152280936	C	T	152280936	2	4	270	1	0	0	0	0	0	0	0	1	5922	639	23	1		1	FLG	1	152280936	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	771704	152280936	96969685	88	133588											
SMCP	4184	broad.mit.edu	37	chr1	152857143	152857143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagcctgaagtctcacCccttaacatggagtctgagc	9	13	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:152857143C>T	uc001fat.2	+	2	390	c.245C>T	c.(244-246)CCC>CTC	p.P82L		NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	82					penetration of zona pellucida|sperm motility	mitochondrial membrane					0	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)			GAAGTCTCACCCCTTAACATG	0.557													T	152857143	C	T	152857143	3	4	270	1	0	0	0	0	1	0	0	0	14789	623	22	4	247	4	SMCP	1	152857143	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	576207	152857143	96393478	89	133589											
PYGO2	90780	broad.mit.edu	37	chr1	154932028	154932029	+	Frame_Shift_Ins	INS	-	-	G													ggtgggtagccaggaccctgINSggggggcatgttgaaagcag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:154932027_154932028T>TG	uc001fft.3	-	2	654_655	c.448_449A>CA	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCATG	0.619													G	154932029	-	G	154932028	7	5	270	1	0	1	1	0	0	0	0	0	12864	1357	47	0	776	0	PYGO2	1	154932028	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	2074885	154932028	94318593	90	133590											
ADAM15	8751	broad.mit.edu	37	chr1	155030118	155030118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgcccacaggactgCgtcgatccctgctgtgattc	10	15	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155030118C>T	uc001fgr.1	+	13	1430	c.1329C>T	c.(1327-1329)TGC>TGT	p.C443C	ADAM15_uc001fgq.1_Silent_p.C128C|ADAM15_uc010pet.1_Silent_p.C427C|ADAM15_uc010peu.1_Silent_p.C460C|ADAM15_uc001fgt.1_Silent_p.C443C|ADAM15_uc010pev.1_Silent_p.C453C|ADAM15_uc001fgs.1_Silent_p.C443C|ADAM15_uc001fgu.1_Silent_p.C443C|ADAM15_uc001fgw.1_Silent_p.C443C|ADAM15_uc001fgv.1_Silent_p.C443C|ADAM15_uc001fgx.1_Silent_p.C443C|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	443	Disintegrin.|Extracellular (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	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)			CACAGGACTGCGTCGATCCCT	0.612													T	155030118	C	T	155030118	2	4	270	1	0	0	0	0	0	0	0	1	237	776	27	1		1	ADAM15	1	155030118	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	98090	155030118	94220503	91	133591											
FDPS	2224	broad.mit.edu	37	chr1	155287769	155287769	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcagatgacatcatggAttcatcccttacccgccggg	12	12	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155287769A>C	uc001fkc.2	+	5	737	c.518A>C	c.(517-519)GAT>GCT	p.D173A	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.D107A|FDPS_uc001fke.2_Missense_Mutation_p.D173A|FDPS_uc001fkf.2_Missense_Mutation_p.D107A|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	173		Magnesium 1.|Magnesium 2.			cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GACATCATGGATTCATCCCTT	0.512													C	155287769	A	C	155287769	3	2	270	1	0	0	0	0	1	0	0	0	5803	333	12	5	532	5	FDPS	1	155287769	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	257651	155287769	93962852	92	133592											
FDPS	2224	broad.mit.edu	37	chr1	155288502	155288503	+	Frame_Shift_Ins	INS	-	-	CC													accctggacctcctcacagcINScccccagggcaatgtggatc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155288501_155288502G>GCC	uc001fkc.2	+	6	949_950	c.730_731G>GCC	c.(730-732)gccfs	p.A244fs	FDPS_uc021paw.1_Frame_Shift_Ins_p.A178fs|FDPS_uc001fkd.2_Frame_Shift_Ins_p.A178fs|FDPS_uc021pax.1_Frame_Shift_Ins_p.A73fs|FDPS_uc001fke.2_Frame_Shift_Ins_p.A244fs|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	244					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCTCCTCACAGCCCCCCAGGGC	0.559													CC	155288503	-	CC	155288502	7	5	270	1	0	1	1	0	0	0	0	0	5803	739	26	0	753	0	FDPS	1	155288502	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	733	155288502	93962119	93	133593											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931599	155931599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtagatctcctgcagacGggcccctttctccagctgat	10	13	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155931599G>A	uc001fmt.2	-	11	1439	c.1321C>T	c.(1321-1323)CGT>TGT	p.R441C	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R413C|ARHGEF2_uc001fms.2_Missense_Mutation_p.R440C|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R485C|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R414C|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R486C	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	441					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			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGCAGACGGGCCCCTTTC	0.602													A	155931599	G	A	155931599	3	1	270	1	0	0	0	0	1	0	0	0	903	1116	39	1	1687	1	ARHGEF2	1	155931599	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	643097	155931599	93319022	94	133594											
MEX3A	92312	broad.mit.edu	37	chr1	156047381	156047381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtggccacgtcctcccGtcgccctgtcaccatgaaca	10	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156047381G>A	uc001fnd.3	-	2	547	c.547C>T	c.(547-549)CGG>TGG	p.R183W		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	183	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACGTCCTCCCGTCGCCCTGTC	0.602													A	156047381	G	A	156047381	3	1	270	1	0	0	0	0	1	0	0	0	9509	1144	40	1	1019	1	MEX3A	1	156047381	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	115782	156047381	93203240	95	133595											
GPATCH4	54865	broad.mit.edu	37	chr1	156568099	156568099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtgaactccttggcagGgtcatgtcctacctgccagg	12	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156568099G>A	uc001fpm.2	-	4	220	c.181C>T	c.(181-183)CCT>TCT	p.P61S	GPATCH4_uc001fpl.2_Missense_Mutation_p.P56S	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	56	G-patch.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTTGGCAGGGTCATGTCCT	0.532													A	156568099	G	A	156568099	3	1	270	1	0	0	0	0	1	0	0	0	6593	1232	43	4	966	4	GPATCH4	1	156568099	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	520718	156568099	92682522	96	133596											
NES	10763	broad.mit.edu	37	chr1	156642739	156642740	+	Frame_Shift_Del	DEL	AG	AG	-													tcccaccctgtgtctggagcAgagagagaggagcatcctgg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156642738_156642739CAG>C	uc001fpq.3	-	3	1374_1375	c.1241_1242CTG>G	c.(1240-1242)ctgfs	p.L414fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	414	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|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)					GTGTCTGGAGCAGAGAGAGAGG	0.649													-	156642740	AG	-	156642739	7	5	270	1	0	1	0	1	0	0	0	0	10337	188	7	0	3628	0	NES	1	156642739	Frame_Shift_Del	DEL	AG	TCGA-HU-A4GN-01A-11D-A25D-08	74640	156642739	92607882	97	133597											
INSRR	3645	broad.mit.edu	37	chr1	156819054	156819054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaggcggcgcggtctccGttggtgcgggggttgatctc	17	11	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156819054G>A	uc010pht.1	-	6	1682	c.1428C>T	c.(1426-1428)AAC>AAT	p.N476N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	476					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			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCGGTCTCCGTTGGTGCGGG	0.657													A	156819054	G	A	156819054	2	1	270	1	0	0	0	0	0	0	0	1	7774	1136	40	1		1	INSRR	1	156819054	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	176315	156819054	92431567	98	133598											
OR10K2	391107	broad.mit.edu	37	chr1	158389904	158389904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaaggaggcacagccataGtggacagtgacaataatgag	12	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:158389904G>T	uc010pii.1	-	1	753	c.753C>A	c.(751-753)CAC>CAA	p.H251Q		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CACAGCCATAGTGGACAGTGA	0.433													T	158389904	G	T	158389904	3	4	270	1	0	0	0	0	1	0	0	0	10914	1020	36	5	187	5	OR10K2	1	158389904	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1570850	158389904	90860717	99	133599											
OR6Y1	391112	broad.mit.edu	37	chr1	158517023	158517023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagacagtaaatgatgggGttgaggagtggaacaatgac	14	5	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:158517023G>T	uc010pil.1	-	1	873	c.873C>A	c.(871-873)AAC>AAA	p.N291K		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AAATGATGGGGTTGAGGAGTG	0.473													T	158517023	G	T	158517023	3	4	270	1	0	0	0	0	1	0	0	0	11213	1252	44	5	106	5	OR6Y1	1	158517023	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	127119	158517023	90733598	100	133600											
SPTA1	6708	broad.mit.edu	37	chr1	158647587	158647587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagaggtgagtacaggttCcttctccttgatccactgga	10	11	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:158647587C>T	uc001fst.1	-	7	1049	c.850G>A	c.(850-852)GAA>AAA	p.E284K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	284	Spectrin 4.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGTACAGGTTCCTTCTCCTTG	0.478													T	158647587	C	T	158647587	3	4	270	1	0	0	0	0	1	0	0	0	15115	864	30	4	6593	4	SPTA1	1	158647587	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	130564	158647587	90603034	101	133601											
IFI16	3428	broad.mit.edu	37	chr1	159021772	159021772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgatgtgaatgctgacCgaaacatggagatcccaaaa	11	8	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:159021772C>T	uc001ftg.2	+	9	2091	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	IFI16_uc010pis.1_Nonsense_Mutation_p.R601*|IFI16_uc001fth.2_Nonsense_Mutation_p.R144*|IFI16_uc010pit.1_Nonsense_Mutation_p.R200*	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	657	HIN-200 2.				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			ovary(1)	1	all_hematologic(112;0.0429)					GAATGCTGACCGAAACATGGA	0.428													T	159021772	C	T	159021772	4	4	270	1	0	0	0	0	0	1	0	0	7511	644	23	1	1831	1	IFI16	1	159021772	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	374185	159021772	90228849	102	133602											
KCNJ10	3766	broad.mit.edu	37	chr1	160011276	160011276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcttttcagggtctccGtagcgtacagtgctgtcacg	12	10	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:160011276G>A	uc001fuw.1	-	2	1197	c.1047C>T	c.(1045-1047)TAC>TAT	p.Y349Y		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	349	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGTCTCCGTAGCGTACAG	0.512													A	160011276	G	A	160011276	2	1	270	1	0	0	0	0	0	0	0	1	8044	1140	40	1		1	KCNJ10	1	160011276	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	989504	160011276	89239345	103	133603											
PPOX	5498	broad.mit.edu	37	chr1	161136994	161136994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggggaattaggccagcGggagccctaggggcccggac	17	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:161136994G>A	uc001fyj.2	+	3	482	c.192G>A	c.(190-192)GCG>GCA	p.A64A	PPOX_uc001fyn.2_Silent_p.A64A|PPOX_uc001fyg.2_Silent_p.A64A|PPOX_uc001fyl.2_5'UTR|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Silent_p.A64A|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	64					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTAGGCCAGCGGGAGCCCTAG	0.592									Porphyria_Variegata				A	161136994	G	A	161136994	2	1	270	1	0	0	0	0	0	0	0	1	12348	1103	39	1		1	PPOX	1	161136994	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1125718	161136994	88113627	104	133604											
B4GALT3	8703	broad.mit.edu	37	chr1	161141683	161141683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggccggcgttgcagcaTctcttgacggaaggcttggg	18	9	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:161141683T>C	uc001fyq.1	-	8	1367	c.1105A>G	c.(1105-1107)ATG>GTG	p.M369V	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.M149V|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.M369V|B4GALT3_uc001fys.1_Missense_Mutation_p.M369V	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	369	Lumenal (Potential).				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				0	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)	CGTTGCAGCATCTCTTGACGG	0.602													C	161141683	T	C	161141683	3	2	270	1	0	0	0	0	1	0	0	0	1272	1435	50	3	80	3	B4GALT3	1	161141683	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4689	161141683	88108938	105	133605											
UAP1	6675	broad.mit.edu	37	chr1	162549390	162549390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaacaaagtttctatggctCcaggtttgtaatcatcctta	7	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:162549390C>T	uc001gce.3	+	4	987	c.658C>T	c.(658-660)CCA>TCA	p.P220S		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	220					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			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTCTATGGCTCCAGGTTTGTA	0.308													T	162549390	C	T	162549390	3	4	270	1	0	0	0	0	1	0	0	0	16822	855	30	4	668	4	UAP1	1	162549390	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1407707	162549390	86701231	106	133606											
RGS5	8490	broad.mit.edu	37	chr1	163131737	163131737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtttgtccagggaatcaCgccactgcagggcctcgtcc	13	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:163131737C>T	uc001gcn.2	-	3	432	c.185G>A	c.(184-186)CGT>CAT	p.R62H	RGS5_uc009wvb.2_Intron	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	62					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGGGAATCACGCCACTGCAG	0.418													T	163131737	C	T	163131737	3	4	270	1	0	0	0	0	1	0	0	0	13308	536	19	1	372	1	RGS5	1	163131737	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	582347	163131737	86118884	107	133607											
LRRC52	440699	broad.mit.edu	37	chr1	165513722	165513722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgttcctgaacgagaaCagaatcactagtttgccagc	10	10	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:165513722C>T	uc001gde.2	+	1	245	c.189C>T	c.(187-189)AAC>AAT	p.N63N	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	63	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGAACGAGAACAGAATCACTA	0.483													T	165513722	C	T	165513722	2	4	270	1	0	0	0	0	0	0	0	1	9010	477	17	4		4	LRRC52	1	165513722	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2381985	165513722	83736899	108	133608											
TMCO1	54499	broad.mit.edu	37	chr1	165712524	165712524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaggggtaaaaggaagCtttgccaccactctaccatc	10	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:165712524C>T	uc001gdj.3	-	6	497	c.348G>A	c.(346-348)AAG>AAA	p.K116K	TMCO1_uc001gdl.3_Silent_p.K32K|TMCO1_uc001gdm.3_Silent_p.K32K|TMCO1_uc001gdk.3_Silent_p.K104K|TMCO1_uc001gdn.3_RNA	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	116						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TAAAAGGAAGCTTTGCCACCA	0.373													T	165712524	C	T	165712524	2	4	270	1	0	0	0	0	0	0	0	1	15992	796	28	2		2	TMCO1	1	165712524	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	198802	165712524	83538097	109	133609											
BAT2L2	23215	broad.mit.edu	37	chr1	171504671	171504671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctcaacctcggccgGctgtattatctggctatttc	10	12	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:171504671G>A	uc010pmg.1	+	13	2238	c.1972G>A	c.(1972-1974)GCT>ACT	p.A658T		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	658							protein C-terminus binding				0						ACCTCGGCCGGCTGTATTATC	0.443													A	171504671	G	A	171504671	3	1	270	1	0	0	0	0	1	0	0	0	1321	1203	42	2	2018	2	BAT2L2	1	171504671	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5792147	171504671	77745950	110	133610											
PIGC	5279	broad.mit.edu	37	chr1	172411516	172411516	+	Frame_Shift_Del	DEL	G	G	-													accagtccctaaaagccaatGgggggccagaagaccctcat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:172411515_172411515TG>T	uc021pey.1	-	0	248	c.248_248CA>A	c.(247-249)catfs	p.H83fs	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Frame_Shift_Del_p.H83fs|PIGC_uc001gio.3_Frame_Shift_Del_p.H83fs	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	83					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TAAAAGCCAATGGGGGGCCAG	0.502													-	172411516	G	-	172411516	7	5	270	1	0	1	0	1	0	0	0	0	11886	1348	47	0	650	0	PIGC	1	172411516	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	906845	172411516	76839105	111	133611											
RASAL2	9462	broad.mit.edu	37	chr1	178411822	178411822	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttataggacaattgcaggCgagctgaaaatgttcttcgt	10	7	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:178411822C>T	uc001glr.2	+	6	621	c.496C>T	c.(496-498)CGA>TGA	p.R166*	RASAL2_uc001glq.2_Nonsense_Mutation_p.R314*	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	166					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAATTGCAGGCGAGCTGAAAA	0.383													T	178411822	C	T	178411822	4	4	270	1	0	0	0	0	0	1	0	0	13064	760	27	1	987	1	RASAL2	1	178411822	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6000306	178411822	70838799	112	133612											
ZNF648	127665	broad.mit.edu	37	chr1	182026325	182026325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgcgtagcgcttggcggcgCcgccgcgcgtctccgcgggg	18	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:182026325C>G	uc001goz.2	-	2	1029	c.821G>C	c.(820-822)GGC>GCC	p.G274A		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTGGCGGCGCCGCCGCGCGT	0.741													G	182026325	C	G	182026325	3	3	270	1	0	0	0	0	1	0	0	0	18060	739	26	5	889	5	ZNF648	1	182026325	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3614503	182026325	67224296	113	133613											
FAM129A	116496	broad.mit.edu	37	chr1	184764655	184764657	+	In_Frame_Del	DEL	TCT	TCT	-													cctgactgggctctttttccTcttcttcttcattttcttgg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:184764654_184764656CTCT>C	uc001gra.3	-	13	2436_2438	c.2242_2244AGAG>G	c.(2242-2244)gag>G	p.E749del	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	749	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCTCTTTTTCCTCTTCTTCTTCA	0.557													-	184764657	TCT	-	184764655	7	5	270	1	0	1	0	1	0	0	0	0	5436	1551	54	0	547	0	FAM129A	1	184764655	In_Frame_Del	DEL	TCT	TCGA-HU-A4GN-01A-11D-A25D-08	2738330	184764655	64485966	114	133614											
ASPM	259266	broad.mit.edu	37	chr1	197091176	197091176	+	Splice_Site	DEL	A	A	-													caaataggtaataaccacctAaaaaaaacccacaaaagata							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					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						AATAACCACCTAAAAAAAACC	0.303													-	197091176	A	-	197091176	8	5	270	1	0	1	0	1	0	0	1	0	1056	377	13	0		0	ASPM	1	197091176	Splice_Site	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	12326521	197091176	52159445	115	133615											
LHX9	56956	broad.mit.edu	37	chr1	197898270	197898270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcactccacccggcactGcgaccactttaacagacctg	6	18	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:197898270G>A	uc001guk.1	+	5	1512	c.1075G>A	c.(1075-1077)GCG>ACG	p.A359T	LHX9_uc001gui.1_Missense_Mutation_p.A350T|LHX9_uc001guj.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	359					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			ovary(1)	1						ACCCGGCACTGCGACCACTTT	0.577													A	197898270	G	A	197898270	3	1	270	1	0	0	0	0	1	0	0	0	8777	1319	46	2	1125	2	LHX9	1	197898270	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	807094	197898270	51352351	116	133616											
NAV1	89796	broad.mit.edu	37	chr1	201687819	201687819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtggacctcaagtccGgctacatgagcgacagtgac	13	10	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:201687819G>A	uc001gwu.2	+	3	1509	c.1162G>A	c.(1162-1164)GGC>AGC	p.G388S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	388					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCTCAAGTCCGGCTACATGAG	0.607													A	201687819	G	A	201687819	3	1	270	1	0	0	0	0	1	0	0	0	10183	1116	39	1	1172	1	NAV1	1	201687819	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3789549	201687819	47562802	117	133617											
DSTYK	25778	broad.mit.edu	37	chr1	205128707	205128707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagatcccggtgtagccGctccataatgaggagcacag	13	10	0	2	rs150778354	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:205128707G>A	uc001hbw.2	-	9	2270	c.2206C>T	c.(2206-2208)CGG>TGG	p.R736W	DSTYK_uc001hbx.2_Missense_Mutation_p.R736W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	736	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CGGTGTAGCCGCTCCATAATG	0.542													A	205128707	G	A	205128707	3	1	270	1	0	0	0	0	1	0	0	0	4785	1086	38	1	603	1	DSTYK	1	205128707	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3440888	205128707	44121914	118	133618											
CENPF	1063	broad.mit.edu	37	chr1	214794185	214794185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggaacaagaggtgactcCaagtcgatcaactttgcaaa	11	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:214794185C>A	uc001hkm.2	+	6	935	c.761C>A	c.(760-762)CCA>CAA	p.P254Q		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	254	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGGTGACTCCAAGTCGATCA	0.388													A	214794185	C	A	214794185	3	1	270	1	0	0	0	0	1	0	0	0	3231	594	21	5	779	5	CENPF	1	214794185	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	9665478	214794185	34456436	119	133619											
USH2A	7399	broad.mit.edu	37	chr1	215824087	215824087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggtggggctggcccGgttctgcaccatgtccagct	13	14	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:215824087G>A	uc001hku.1	-	65	14577	c.14190C>T	c.(14188-14190)ACC>ACT	p.T4730T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4730	Fibronectin type-III 32.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGGCCCGGTTCTGCACC	0.547										HNSCC(13;0.011)			A	215824087	G	A	215824087	2	1	270	1	0	0	0	0	0	0	0	1	17033	1103	39	1		1	USH2A	1	215824087	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1029902	215824087	33426534	120	133620											
MARK1	4139	broad.mit.edu	37	chr1	220826691	220826691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcacatccaaatttgttcGcaggtcagtaccaatgtact	6	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:220826691G>A	uc001hmn.3	+	16	2582	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H	MARK1_uc009xdw.2_Missense_Mutation_p.R663H|MARK1_uc010pun.1_Missense_Mutation_p.R662H|MARK1_uc001hmm.3_Missense_Mutation_p.R640H	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	662					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		AAATTTGTTCGCAGGTCAGTA	0.368													A	220826691	G	A	220826691	3	1	270	1	0	0	0	0	1	0	0	0	9312	1087	38	1	2047	1	MARK1	1	220826691	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5002604	220826691	28423930	121	133621											
HLX	3142	broad.mit.edu	37	chr1	221057717	221057717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgagagcgagagcagcGactccgagtccctggacatg	15	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:221057717G>A	uc001hmv.3	+	4	1595	c.1138G>A	c.(1138-1140)GAC>AAC	p.D380N		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	380	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		CGAGAGCAGCGACTCCGAGTC	0.652													A	221057717	G	A	221057717	3	1	270	1	0	0	0	0	1	0	0	0	7216	1058	37	1	1152	1	HLX	1	221057717	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	231026	221057717	28192904	122	133622											
ITPKB	3707	broad.mit.edu	37	chr1	226829622	226829622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcactcgccggcctcacCttgattccctcgatcctgaa	6	19	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:226829622C>A	uc010pvo.1	-	5	2791	c.2451G>T	c.(2449-2451)AAG>AAT	p.K817N		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	817		ATP (By similarity).					ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CCGGCCTCACCTTGATTCCCT	0.642													A	226829622	C	A	226829622	3	1	270	1	0	0	0	0	1	0	0	0	7918	695	24	5	405	5	ITPKB	1	226829622	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5771905	226829622	22420999	123	133623											
ARF1	375	broad.mit.edu	37	chr1	228285343	228285343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcgtgtgaacgaggcccGtgaggagctcatgaggatgc	17	8	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228285343G>A	uc001hrr.2	+	4	539	c.311G>A	c.(310-312)CGT>CAT	p.R104H	ARF1_uc001hrs.2_Missense_Mutation_p.R104H|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.R104H|ARF1_uc001hrv.2_Missense_Mutation_p.R104H|ARF1_uc001hrw.2_Missense_Mutation_p.R104H	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	104					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				AACGAGGCCCGTGAGGAGCTC	0.637													A	228285343	G	A	228285343	3	1	270	1	0	0	0	0	1	0	0	0	844	1145	40	1	321	1	ARF1	1	228285343	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1455721	228285343	20965278	124	133624											
OBSCN	84033	broad.mit.edu	37	chr1	228400308	228400308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggtgtggaagaaggacgGccagctggtgaccgagggcc	19	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228400308G>A	uc009xez.1	+	2	868	c.824G>A	c.(823-825)GGC>GAC	p.G275D	OBSCN_uc001hsn.2_Missense_Mutation_p.G275D|uc001hsm.1_RNA	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	275	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AAGAAGGACGGCCAGCTGGTG	0.672													A	228400308	G	A	228400308	3	1	270	1	0	0	0	0	1	0	0	0	10812	1203	42	2	826	2	OBSCN	1	228400308	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	114965	228400308	20850313	125	133625											
OBSCN	84033	broad.mit.edu	37	chr1	228412242	228412242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgccacactgagctgCgaggtggcccaggcccagac	14	15	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228412242C>T	uc009xez.1	+	9	2780	c.2736C>T	c.(2734-2736)TGC>TGT	p.C912C	OBSCN_uc001hsn.2_Silent_p.C912C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	912	Ig-like 9.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CACTGAGCTGCGAGGTGGCCC	0.627													T	228412242	C	T	228412242	2	4	270	1	0	0	0	0	0	0	0	1	10812	776	27	1		1	OBSCN	1	228412242	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	11934	228412242	20838379	126	133626											
OBSCN	84033	broad.mit.edu	37	chr1	228433175	228433175	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaggtgcaggctgaggcgggGaccactgccatgctgagctg	18	10	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228433175G>T	uc009xez.1	+	12	3587	c.3543G>T	c.(3541-3543)GGG>GGT	p.G1181G	OBSCN_uc001hsn.2_Silent_p.G1181G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1181	Ig-like 12.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGAGGCGGGGACCACTGCCA	0.587													T	228433175	G	T	228433175	2	4	270	1	0	0	0	0	0	0	0	1	10812	1161	41	5		5	OBSCN	1	228433175	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	20933	228433175	20817446	127	133627											
LYST	1130	broad.mit.edu	37	chr1	235916502	235916502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatatagagaggtctcTattagtcccagaataggaat	9	6	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:235916502T>C	uc001hxj.2	-	26	7477	c.7302A>G	c.(7300-7302)ATA>ATG	p.I2434M	LYST_uc009xga.1_Missense_Mutation_p.I16M	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2434					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GAGAGGTCTCTATTAGTCCCA	0.343									Chediak-Higashi_syndrome				C	235916502	T	C	235916502	3	2	270	1	0	0	0	0	1	0	0	0	9128	1512	53	3	4215	3	LYST	1	235916502	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	7483327	235916502	13334119	128	133628											
LYST	1130	broad.mit.edu	37	chr1	235920596	235920596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttactttaataacaccttgTtgtatagctggtgatgggtg	10	6	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:235920596T>C	uc001hxj.2	-	24	7219	c.7044A>G	c.(7042-7044)CAA>CAG	p.Q2348Q		NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2348					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			TAACACCTTGTTGTATAGCTG	0.299									Chediak-Higashi_syndrome				C	235920596	T	C	235920596	2	2	270	1	0	0	0	0	0	0	0	1	9128	1722	60	3		3	LYST	1	235920596	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4094	235920596	13330025	129	133629											
EXO1	9156	broad.mit.edu	37	chr1	242042157	242042157	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaacaatctgcatgaatcaGagtatggagaccaagaaggc	11	7	2	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:242042157G>A	uc001hzh.2	+	13	2161	c.1621G>A	c.(1621-1623)GAG>AAG	p.E541K	EXO1_uc001hzi.2_Missense_Mutation_p.E541K|EXO1_uc001hzj.2_Missense_Mutation_p.E541K|EXO1_uc009xgq.2_Missense_Mutation_p.E540K	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	541					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GCATGAATCAGAGTATGGAGA	0.413								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	242042157	G	A	242042157	3	1	270	1	0	0	0	0	1	0	0	0	5300	943	33	4	1659	4	EXO1	1	242042157	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	6121561	242042157	7208464	130	133630											
ZNF238	10472	broad.mit.edu	37	chr1	244218334	244218334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgatgtcaacgtgcccAcgtgctcgctgtgtgggaag	14	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:244218334A>G	uc001iae.2	+	1	1753	c.1231A>G	c.(1231-1233)ACG>GCG	p.T411A	ZNF238_uc001iad.3_Missense_Mutation_p.T420A|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	411	C2H2-type 2.|Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CAACGTGCCCACGTGCTCGCT	0.637													G	244218334	A	G	244218334	3	3	270	1	0	0	0	0	1	0	0	0	17787	159	6	3	1264	3	ZNF238	1	244218334	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2176177	244218334	5032287	131	133631											
KIF26B	55083	broad.mit.edu	37	chr1	245849800	245849800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagatcctgagcaccaCgatggtgacggtgcagcagc	15	10	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:245849800C>T	uc001ibf.1	+	12	3955	c.3515C>T	c.(3514-3516)ACG>ATG	p.T1172M	KIF26B_uc001ibg.1_Missense_Mutation_p.T790M|KIF26B_uc001ibh.1_Missense_Mutation_p.T414M	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1172					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			CTGAGCACCACGATGGTGACG	0.607													T	245849800	C	T	245849800	3	4	270	1	0	0	0	0	1	0	0	0	8295	536	19	1	3561	1	KIF26B	1	245849800	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1631466	245849800	3400821	132	133632											
SCCPDH	51097	broad.mit.edu	37	chr1	246921560	246921560	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgatggtacctggaagtcAgcaatttatggttttggaga	12	5	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:246921560A>G	uc001ibr.2	+	6	944	c.597A>G	c.(595-597)TCA>TCG	p.S199S		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	199						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CCTGGAAGTCAGCAATTTATG	0.348													G	246921560	A	G	246921560	2	3	270	1	0	0	0	0	0	0	0	1	13885	175	7	3		3	SCCPDH	1	246921560	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1071760	246921560	2329061	133	133633											
ACP1	52	broad.mit.edu	37	chr2	277054	277054	+	Frame_Shift_Del	DEL	A	A	-													acttgggagctatgatccacAaaaacaacttattattgaag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:277053_277053CA>C	uc002qwf.3	+	4	463	c.367_367CA>C	c.(367-369)caafs	p.Q123fs	ACP1_uc002qwg.3_Frame_Shift_Del_p.Q123fs|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	123						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CTATGATCCACAAAAACAACT	0.303													-	277054	A	-	277054	7	5	270	1	0	1	0	1	0	0	0	0	162	130	5	0	541	0	ACP1	2	277054	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08		277054	242922319	134	133634											
TAF1B	9014	broad.mit.edu	37	chr2	9985364	9985364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggaagagtttaaagaaCgctgtactcagtgtgctgct	11	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:9985364C>T	uc002qzz.2	+	2	134	c.34C>T	c.(34-36)CGC>TGC	p.R12C	TAF1B_uc010exc.2_Missense_Mutation_p.R12C|TAF1B_uc002qzy.3_Missense_Mutation_p.R12C|TAF1B_uc010yja.1_Translation_Start_Site|TAF1B_uc010exd.2_Translation_Start_Site	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	12					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			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTAAAGAACGCTGTACTCA	0.408													T	9985364	C	T	9985364	3	4	270	1	0	0	0	0	1	0	0	0	15517	536	19	1	40	1	TAF1B	2	9985364	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	9708310	9985364	233214009	135	133635											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912017	10912017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgagcaaagaggacttcGtgctggattctgaatatctc	11	7	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:10912017G>A	uc002ras.2	+	7	632	c.523G>A	c.(523-525)GTG>ATG	p.V175M	ATP6V1C2_uc002rat.2_Missense_Mutation_p.V175M	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	175					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGGACTTCGTGCTGGATTC	0.532													A	10912017	G	A	10912017	3	1	270	1	0	0	0	0	1	0	0	0	1181	1145	40	1	545	1	ATP6V1C2	2	10912017	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	926653	10912017	232287356	136	133636											
E2F6	1876	broad.mit.edu	37	chr2	11590210	11590210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacgatctgttcatggaaGgcctgaatgctatgaatgtc	11	7	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:11590210G>A	uc002rbh.2	-	5	871	c.579C>T	c.(577-579)GCC>GCT	p.A193A	E2F6_uc002rbe.2_Silent_p.A118A|E2F6_uc002rbf.2_Silent_p.A161A|E2F6_uc002rbg.2_Silent_p.A118A|E2F6_uc002rbi.2_Silent_p.A118A|E2F6_uc010yjl.1_Intron	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	193	Transcription repression.|Dimerization (Potential).				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GTTCATGGAAGGCCTGAATGC	0.413													A	11590210	G	A	11590210	2	1	270	1	0	0	0	0	0	0	0	1	4871	987	35	4		4	E2F6	2	11590210	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	678193	11590210	231609163	137	133637											
NTSR2	23620	broad.mit.edu	37	chr2	11798844	11798844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtggtagaaattgtacaGtgggctgcaagagaaacccg	14	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:11798844G>A	uc002rbq.3	-	4	1068	c.994C>T	c.(994-996)CTG>TTG	p.L332L		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	332	Extracellular (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AAATTGTACAGTGGGCTGCAA	0.527													A	11798844	G	A	11798844	2	1	270	1	0	0	0	0	0	0	0	1	10711	1020	36	4		4	NTSR2	2	11798844	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	208634	11798844	231400529	138	133638											
APOB	338	broad.mit.edu	37	chr2	21232913	21232913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctaggtgctggatgtctAtattctgtatgtgtctctta	10	7	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:21232913A>G	uc002red.2	-	26	6955	c.6827T>C	c.(6826-6828)ATA>ACA	p.I2276T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2276					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGATGTCTATATTCTGTAT	0.363													G	21232913	A	G	21232913	3	3	270	1	0	0	0	0	1	0	0	0	785	449	16	3	6880	3	APOB	2	21232913	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	9434069	21232913	221966460	139	133639											
ADCY3	109	broad.mit.edu	37	chr2	25141477	25141477	+	Frame_Shift_Del	DEL	T	T	-													cccggtccgggagcagccccTttttgcagagcacgaagagg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:25141476_25141476CT>C	uc010ykm.2	-	0	580	c.381_381AG>G	c.(379-381)aagfs	p.K127fs	ADCY3_uc002rfs.4_Frame_Shift_Del_p.K127fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	127					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)					GGAGCAGCCCCTTTTTGCAGA	0.602													-	25141477	T	-	25141477	7	5	270	1	0	1	0	1	0	0	0	0	295	1609	56	0	3138	0	ADCY3	2	25141477	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	3908564	25141477	218057896	140	133640											
ASXL2	55252	broad.mit.edu	37	chr2	25966041	25966041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctttacttagtccttcGtggtattggtgtgtgtcaat	11	6	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:25966041G>A	uc002rgs.2	-	12	3386	c.3165C>T	c.(3163-3165)CAC>CAT	p.H1055H	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTCCTTCGTGGTATTGGT	0.507													A	25966041	G	A	25966041	2	1	270	1	0	0	0	0	0	0	0	1	1067	1136	40	1		1	ASXL2	2	25966041	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	824564	25966041	217233332	141	133641											
ASXL2	55252	broad.mit.edu	37	chr2	25966749	25966749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactgggcccttgtggatgGctgacagaggccactgtggc	15	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:25966749G>A	uc002rgs.2	-	12	2678	c.2457C>T	c.(2455-2457)AGC>AGT	p.S819S	ASXL2_uc002rgt.1_Silent_p.S559S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTGGATGGCTGACAGAGG	0.522													A	25966749	G	A	25966749	2	1	270	1	0	0	0	0	0	0	0	1	1067	1194	42	2		2	ASXL2	2	25966749	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	708	25966749	217232624	142	133642											
ASXL2	55252	broad.mit.edu	37	chr2	25966873	25966874	+	Frame_Shift_Ins	INS	-	-	G													ggcaggtgttggaggcactgINSggggggtttgctgtagttgt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:25966872_25966873T>TG	uc002rgs.2	-	11	2554_2555	c.2333_2334A>CA	c.(2332-2334)ccafs	p.P778fs	ASXL2_uc002rgt.1_Frame_Shift_Ins_p.P518fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	778					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)					TTGGAGGCACTGGGGGGGTTTG	0.554													G	25966874	-	G	25966873	7	5	270	1	0	1	1	0	0	0	0	0	1067	1348	47	0	1978	0	ASXL2	2	25966873	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	124	25966873	217232500	143	133643											
CENPA	1058	broad.mit.edu	37	chr2	27016109	27016109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaaggatgtgcaactgGcccggaggatccggggcctt	14	12	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:27016109G>A	uc002rhr.2	+	4	568	c.385G>A	c.(385-387)GCC>ACC	p.A129T	CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Missense_Mutation_p.A103T	NM_001809	NP_001800	P49450	CENPA_HUMAN	centromere protein A isoform a	129	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCAACTGGCCCGGAGGAT	0.562													A	27016109	G	A	27016109	3	1	270	1	0	0	0	0	1	0	0	0	3226	1203	42	2	399	2	CENPA	2	27016109	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1049236	27016109	216183264	144	133644											
PREB	10113	broad.mit.edu	37	chr2	27357254	27357254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtacaacgggaacggAgcccggtacagctctggcgc	15	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:27357254A>G	uc002rix.1	-	1	289	c.36T>C	c.(34-36)GCT>GCC	p.A12A	PREB_uc002riy.1_5'UTR|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Silent_p.A12A	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	12	Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGGAACGGAGCCCGGTACA	0.562													G	27357254	A	G	27357254	2	3	270	1	0	0	0	0	0	0	0	1	12470	291	11	3		3	PREB	2	27357254	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	341145	27357254	215842119	145	133645											
SLC5A6	8884	broad.mit.edu	37	chr2	27430357	27430357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagctcaccaacagtAtgccggccccagccacgaca	8	17	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:27430357A>G	uc002rjd.2	-	3	553	c.162T>C	c.(160-162)CAT>CAC	p.H54H	SLC5A6_uc010eyv.1_Silent_p.H54H|SLC5A6_uc002rje.1_Silent_p.H54H	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	54					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CACCAACAGTATGCCGGCCCC	0.597													G	27430357	A	G	27430357	2	3	270	1	0	0	0	0	0	0	0	1	14669	446	16	3		3	SLC5A6	2	27430357	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	73103	27430357	215769016	146	133646											
PLB1	151056	broad.mit.edu	37	chr2	28841220	28841220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccctagtccaccagctccGaccagcagacatcaaagtgg	8	16	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:28841220G>A	uc002rmb.1	+	46	3269	c.3269G>A	c.(3268-3270)CGA>CAA	p.R1090Q	PLB1_uc010ezj.1_Missense_Mutation_p.R1079Q|PLB1_uc002rme.1_Missense_Mutation_p.R55Q|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1090	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CACCAGCTCCGACCAGCAGAC	0.552													A	28841220	G	A	28841220	3	1	270	1	0	0	0	0	1	0	0	0	12024	1058	37	1	3484	1	PLB1	2	28841220	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1410863	28841220	214358153	147	133647											
ALK	238	broad.mit.edu	37	chr2	29917828	29917828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggttcctgaggtcatgCagtggaggggaatactccag	14	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:29917828C>T	uc002rmy.2	-	3	1747	c.840G>A	c.(838-840)CTG>CTA	p.L280L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	280	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGAGGTCATGCAGTGGAGGGG	0.572			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29917828	C	T	29917828	2	4	270	1	0	0	0	0	0	0	0	1	525	697	25	2		2	ALK	2	29917828	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1076608	29917828	213281545	148	133648											
SRD5A2	6716	broad.mit.edu	37	chr2	31805915	31805915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggccagtgccccaagggCgaccaaagtggcgctgcctg	14	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:31805915C>T	uc002rnw.1	-	1	126	c.55G>A	c.(55-57)GCC>ACC	p.A19T		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	19	Helical; (Potential).				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCCCCAAGGGCGACCAAAGTG	0.706													T	31805915	C	T	31805915	3	4	270	1	0	0	0	0	1	0	0	0	15138	768	27	1	728	1	SRD5A2	2	31805915	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1888087	31805915	211393458	149	133649											
BIRC6	57448	broad.mit.edu	37	chr2	32693612	32693612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacgaaaaccagataaggCagttgaggaagacagtaggg	13	5	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:32693612C>T	uc010ezu.2	+	29	6022	c.5888C>T	c.(5887-5889)GCA>GTA	p.A1963V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1963					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAGATAAGGCAGTTGAGGAA	0.403													T	32693612	C	T	32693612	3	4	270	1	0	0	0	0	1	0	0	0	1438	710	25	2	6002	2	BIRC6	2	32693612	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	887697	32693612	210505761	150	133650											
FAM98A	25940	broad.mit.edu	37	chr2	33813525	33813526	+	Frame_Shift_Ins	INS	-	-	T													taccgcctccttcttgagctINSttttttggaggagcattcac							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:33813524_33813525C>CT	uc002rpa.1	-	3	473_474	c.399_400G>AG	c.(397-402)aaagctfs	p.K133fs	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Frame_Shift_Ins_p.K10fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	133										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)					CCTTCTTGAGCTTTTTTTGGAG	0.401													T	33813526	-	T	33813525	7	5	270	1	0	1	1	0	0	0	0	0	5656	1606	56	0	1177	0	FAM98A	2	33813525	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1119913	33813525	209385848	151	133651											
CEBPZ	10153	broad.mit.edu	37	chr2	37458564	37458564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgttaccttggtgccTccgagccgtaacacttcctc	10	16	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:37458564T>C	uc002rpz.2	-	1	177	c.147A>G	c.(145-147)GGA>GGG	p.G49G	C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	49					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				CCTTGGTGCCTCCGAGCCGTA	0.637													C	37458564	T	C	37458564	2	2	270	1	0	0	0	0	0	0	0	1	3204	1538	54	3		3	CEBPZ	2	37458564	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3645039	37458564	205740809	152	133652											
PIGF	5281	broad.mit.edu	37	chr2	46808671	46808671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtatatccagagtggtgaAataacaaggccagccacgta	10	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:46808671A>G	uc002rvd.2	-	6	770	c.606T>C	c.(604-606)ATT>ATC	p.I202I	RHOQ_uc002rva.2_3'UTR|uc002rvb.2_5'Flank|PIGF_uc002rvc.2_3'UTR	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	202	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGTGGTGAAATAACAAGGC	0.423													G	46808671	A	G	46808671	2	3	270	1	0	0	0	0	0	0	0	1	11887	10	1	3		3	PIGF	2	46808671	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	9350107	46808671	196390702	153	133653											
TTC7A	57217	broad.mit.edu	37	chr2	47177502	47177502	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccctactttgcttttcagAtgactttgggaaattgctgc	8	10	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:47177502A>T	uc002rvo.2	+	2	553	c.185A>T	c.(184-186)GAT>GTT	p.D62V	TTC7A_uc002rvm.2_Missense_Mutation_p.D28V|TTC7A_uc002rvn.1_5'UTR|TTC7A_uc010fbb.2_Missense_Mutation_p.D62V|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	62							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCTTTTCAGATGACTTTGGG	0.512													T	47177502	A	T	47177502	3	4	270	1	0	0	0	0	1	0	0	0	16709	347	12	5	191	5	TTC7A	2	47177502	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	368831	47177502	196021871	154	133654											
KLRAQ1	129285	broad.mit.edu	37	chr2	48725735	48725735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctagagaaagaaaaccagcGaattgcagataagctgaaga	11	6	0	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:48725735G>A	uc002rwm.2	+	17	1981	c.1796G>A	c.(1795-1797)CGA>CAA	p.R599Q	KLRAQ1_uc002rwl.2_Missense_Mutation_p.R553Q|KLRAQ1_uc002rwk.2_Missense_Mutation_p.R599Q|KLRAQ1_uc010yok.1_Missense_Mutation_p.R568Q	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	599	Potential.									ovary(1)	1						GAAAACCAGCGAATTGCAGAT	0.448													A	48725735	G	A	48725735	3	1	270	1	0	0	0	0	1	0	0	0	8413	1058	37	1	1862	1	KLRAQ1	2	48725735	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1548233	48725735	194473638	155	133655											
LHCGR	3973	broad.mit.edu	37	chr2	48915561	48915561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctttctagagtgatgaCggtgagggtgtagacagaaa	13	6	2	6			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:48915561C>T	uc002rwu.3	-	11	1445	c.1375G>A	c.(1375-1377)GTC>ATC	p.V459I	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	459	Helical; Name=3; (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		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)	AGAGTGATGACGGTGAGGGTG	0.478									Familial_Male-Limited_Precocious_Puberty				T	48915561	C	T	48915561	3	4	270	1	0	0	0	0	1	0	0	0	8762	536	19	1	728	1	LHCGR	2	48915561	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	189826	48915561	194283812	156	133656											
NRXN1	9378	broad.mit.edu	37	chr2	50573840	50573840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagacccaccgtgtccgcctCgcaaggatgccggtgacctg	12	16	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:50573840C>T	uc010fbp.2	-	1	1055	c.248G>A	c.(247-249)CGA>CAA	p.R83Q	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	83	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGTCCGCCTCGCAAGGATGC	0.592													T	50573840	C	T	50573840	3	4	270	1	0	0	0	0	1	0	0	0	10665	884	31	1	1198	1	NRXN1	2	50573840	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1658279	50573840	192625533	157	133657											
USP34	9736	broad.mit.edu	37	chr2	61439037	61439037	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgagctataaacagctGcatcaggttaaacagttctt	7	10	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:61439037G>A	uc002sbe.2	-	69	8732	c.8710C>T	c.(8710-8712)CAG>TAG	p.Q2904*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2904					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ATAAACAGCTGCATCAGGTTA	0.348													A	61439037	G	A	61439037	4	1	270	1	0	0	0	0	0	1	0	0	17062	1328	46	2	1978	2	USP34	2	61439037	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	10865197	61439037	181760336	158	133658											
CEP68	23177	broad.mit.edu	37	chr2	65298937	65298937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggtcgtcccccaggaacCttcctctgtggtggggctag	14	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:65298937C>A	uc002sdl.3	+	3	921	c.707C>A	c.(706-708)CCT>CAT	p.P236H	CEP68_uc002sdj.2_Missense_Mutation_p.P236H|CEP68_uc010yqb.1_Missense_Mutation_p.P236H|CEP68_uc002sdk.3_Missense_Mutation_p.P236H|CEP68_uc010yqc.1_Missense_Mutation_p.P236H|CEP68_uc010yqd.1_Missense_Mutation_p.P236H	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	236					centrosome organization	centrosome				skin(1)	1						CCCCAGGAACCTTCCTCTGTG	0.652													A	65298937	C	A	65298937	3	1	270	1	0	0	0	0	1	0	0	0	3258	681	24	5	713	5	CEP68	2	65298937	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3859900	65298937	177900436	159	133659											
ANTXR1	84168	broad.mit.edu	37	chr2	69420482	69420482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggaaaactcgatgccTtgtgggtcctactgaggaaa	12	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:69420482T>C	uc002sfg.2	+	17	1725	c.1369T>C	c.(1369-1371)TTG>CTG	p.L457L		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	457	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						ACTCGATGCCTTGTGGGTCCT	0.478									Familial_Infantile_Hemangioma				C	69420482	T	C	69420482	2	2	270	1	0	0	0	0	0	0	0	1	711	1606	56	3		3	ANTXR1	2	69420482	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4121545	69420482	173778891	160	133660											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					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						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	270	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1771091	71191573	172007800	161	133661											
TEX261	113419	broad.mit.edu	37	chr2	71218969	71218969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctctcaccacacgacaGgatgaagttaggcgaggtca	10	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:71218969G>A	uc002shn.2	-	3	409	c.295C>T	c.(295-297)CTG>TTG	p.L99L	TEX261_uc010fdy.2_Silent_p.L52L	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	testis expressed sequence 261	99	Helical; (Potential).					integral to membrane					0						CCACACGACAGGATGAAGTTA	0.557													A	71218969	G	A	71218969	2	1	270	1	0	0	0	0	0	0	0	1	15779	991	35	4		4	TEX261	2	71218969	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	27396	71218969	171980404	162	133662											
SMYD5	10322	broad.mit.edu	37	chr2	73448971	73448971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcgaaggacaaggaccgTtggatcagactcttttccca	11	11	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:73448971T>C	uc002siw.2	+	6	584	c.555T>C	c.(553-555)CGT>CGC	p.R185R	SMYD5_uc010yre.1_Silent_p.R69R|SMYD5_uc002six.1_5'Flank	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	185							metal ion binding				0						ACAAGGACCGTTGGATCAGAC	0.453													C	73448971	T	C	73448971	2	2	270	1	0	0	0	0	0	0	0	1	14825	1712	60	3		3	SMYD5	2	73448971	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2230002	73448971	169750402	163	133663											
TET3	200424	broad.mit.edu	37	chr2	74274174	74274174	+	Frame_Shift_Del	DEL	C	C	-													cccgcagccttctcattccaCcccccaggcttcttgccccc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74274173_74274173AC>A	uc002skb.4	+	0	724	c.724_724AC>A	c.(724-726)accfs	p.T242fs	TET3_uc010fez.2_Frame_Shift_Del_p.T242fs	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	242							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						TTCTCATTCCACCCCCCAGGC	0.597													-	74274174	C	-	74274174	7	5	270	1	0	1	0	1	0	0	0	0	15768	507	18	0	727	0	TET3	2	74274174	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	825203	74274174	168925199	164	133664											
SLC4A5	57835	broad.mit.edu	37	chr2	74474271	74474271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcatcttcttgatggcatCgtagatgaagatgaagctga	11	6	3	6			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74474271C>T	uc002sko.1	-	14	1953	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.D651N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D651N|SLC4A5_uc002skp.1_Missense_Mutation_p.D587N|SLC4A5_uc002sks.1_Missense_Mutation_p.D651N	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	651	Helical; (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						TTGATGGCATCGTAGATGAAG	0.478													T	74474271	C	T	74474271	3	4	270	1	0	0	0	0	1	0	0	0	14657	884	31	1	1514	1	SLC4A5	2	74474271	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	200097	74474271	168725102	165	133665											
LOXL3	84695	broad.mit.edu	37	chr2	74763924	74763925	+	Frame_Shift_Ins	INS	-	-	C													acagctcaccactgcagggcINScccccccagggcacctggcg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74763923_74763924G>GC	uc002smp.1	-	4	896_897	c.824_825C>GC	c.(823-825)ggcfs	p.G275fs	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Frame_Shift_Ins_p.G275fs|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	275	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649													C	74763925	-	C	74763924	7	5	270	1	0	1	1	0	0	0	0	0	8901	739	26	0	1477	0	LOXL3	2	74763924	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	289653	74763924	168435449	166	133666											
C2orf65	130951	broad.mit.edu	37	chr2	74867329	74867329	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtagagcaatgtgcacaatgAgaagccgtggaggttgctgg	16	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74867329A>T	uc002smy.2	-	2	191	c.74T>A	c.(73-75)CTC>CAC	p.L25H	C2orf65_uc010ysa.1_Missense_Mutation_p.L25H|C2orf65_uc002smz.2_Missense_Mutation_p.L25H	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	25					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						GTGCACAATGAGAAGCCGTGG	0.552													T	74867329	A	T	74867329	3	4	270	1	0	0	0	0	1	0	0	0	2184	304	11	5	1558	5	C2orf65	2	74867329	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	103405	74867329	168332044	167	133667											
POLR1A	25885	broad.mit.edu	37	chr2	86267634	86267634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcccacagcctcgccCggctcacacagtgagcgctg	12	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:86267634C>T	uc002sqs.2	-	25	4000	c.3621G>A	c.(3619-3621)CCG>CCA	p.P1207P	POLR1A_uc010ytb.1_Silent_p.P573P|POLR1A_uc002sqt.1_Silent_p.P230P	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1207					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			ovary(2)|skin(1)	3						CAGCCTCGCCCGGCTCACACA	0.647													T	86267634	C	T	86267634	2	4	270	1	0	0	0	0	0	0	0	1	12209	639	23	1		1	POLR1A	2	86267634	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	11400305	86267634	156931739	168	133668											
THNSL2	55258	broad.mit.edu	37	chr2	88485550	88485550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacgctgcaccctgatgCggagaggtgacaactggatg	14	10	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:88485550C>T	uc002ssz.3	+	9	1516	c.1363C>T	c.(1363-1365)CGG>TGG	p.R455W	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_3'UTR|THNSL2_uc002ssx.3_3'UTR|THNSL2_uc002sta.3_3'UTR|THNSL2_uc002ssy.3_Missense_Mutation_p.R455W|THNSL2_uc010fhe.2_3'UTR	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	455					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						CACCCTGATGCGGAGAGGTGA	0.612													T	88485550	C	T	88485550	3	4	270	1	0	0	0	0	1	0	0	0	15860	759	27	1	1393	1	THNSL2	2	88485550	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2217916	88485550	154713823	169	133669											
TEKT4	150483	broad.mit.edu	37	chr2	95540642	95540642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatccttcgcgacacctccGaggacctgcggctccagtgc	11	17	0	0	rs146551570		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:95540642G>A	uc002stw.1	+	4	928	c.835G>A	c.(835-837)GAG>AAG	p.E279K	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	279					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CGACACCTCCGAGGACCTGCG	0.677													A	95540642	G	A	95540642	3	1	270	1	0	0	0	0	1	0	0	0	15752	1059	37	1	849	1	TEKT4	2	95540642	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7055092	95540642	147658731	170	133670											
PROM2	150696	broad.mit.edu	37	chr2	95944487	95944487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagaacagcaccttcaacGcccttccagccctggctgcc	9	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:95944487G>A	uc002suh.1	+	9	1202	c.1069G>A	c.(1069-1071)GCC>ACC	p.A357T	PROM2_uc002sui.2_Missense_Mutation_p.A357T|PROM2_uc002suj.2_Missense_Mutation_p.A11T|PROM2_uc002suk.2_Missense_Mutation_p.A357T|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	357	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CACCTTCAACGCCCTTCCAGC	0.627													A	95944487	G	A	95944487	3	1	270	1	0	0	0	0	1	0	0	0	12556	1087	38	1	1103	1	PROM2	2	95944487	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	403845	95944487	147254886	171	133671											
SNRNP200	23020	broad.mit.edu	37	chr2	96948969	96948969	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctccaccaggcgtcGctccatggggctgagcccct	13	16	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:96948969G>A	uc002svu.2	-	34	4971	c.4885C>T	c.(4885-4887)CGA>TGA	p.R1629*	SNRNP200_uc002svt.2_Nonsense_Mutation_p.R239*|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Nonsense_Mutation_p.R156*	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1629	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						ACCAGGCGTCGCTCCATGGGG	0.572													A	96948969	G	A	96948969	4	1	270	1	0	0	0	0	0	1	0	0	14852	1095	38	1	1573	1	SNRNP200	2	96948969	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1004482	96948969	146250404	172	133672											
KIAA1310	55683	broad.mit.edu	37	chr2	97274280	97274280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcagcacagcttctgtcCgctgcacatgtctcttcagc	10	14	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:97274280C>T	uc002swn.3	-	14	1852	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q	KIAA1310_uc002swh.3_Missense_Mutation_p.R457Q|KIAA1310_uc002swi.3_Missense_Mutation_p.R470Q|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R482Q|KIAA1310_uc010fhz.2_Missense_Mutation_p.R363Q|KIAA1310_uc002swl.3_Missense_Mutation_p.R470Q|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.R363Q|KIAA1310_uc002swp.1_Missense_Mutation_p.R470Q	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	569											0						AGCTTCTGTCCGCTGCACATG	0.532													T	97274280	C	T	97274280	3	4	270	1	0	0	0	0	1	0	0	0	8222	652	23	1	962	1	KIAA1310	2	97274280	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	325311	97274280	145925093	173	133673											
SLC9A2	6549	broad.mit.edu	37	chr2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-													tggccgagatatgcccagcaCccccccaacaccccacagca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:103324745_103324745AC>A	uc002tca.3	+	11	2378	c.2236_2236AC>A	c.(2236-2238)accfs	p.T746fs		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	746						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						TATGCCCAGCACCCCCCCAAC	0.527													-	103324746	C	-	103324746	7	5	270	1	0	1	0	1	0	0	0	0	14712	507	18	0	2283	0	SLC9A2	2	103324746	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	6050466	103324746	139874627	174	133674											
POU3F3	5455	broad.mit.edu	37	chr2	105473365	105473365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggagaagcgcatgacgcCgcccgggatccaacagcaga	13	12	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:105473365C>T	uc010ywg.1	+	1	1397	c.1397C>T	c.(1396-1398)CCG>CTG	p.P466L		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	466					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			ovary(1)	1						CGCATGACGCCGCCCGGGATC	0.672													T	105473365	C	T	105473365	3	4	270	1	0	0	0	0	1	0	0	0	12276	652	23	1	1399	1	POU3F3	2	105473365	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2148619	105473365	137726008	175	133675											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459638	107459638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagggcgcctcggtgcCgtccagcgtccgcacgcgcg	15	15	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:107459638C>T	uc002tdq.2	-	2	915	c.796G>A	c.(796-798)GGC>AGC	p.G266S	ST6GAL2_uc002tdr.2_Missense_Mutation_p.G266S|ST6GAL2_uc002tds.3_Missense_Mutation_p.G266S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	266	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GCCTCGGTGCCGTCCAGCGTC	0.766													T	107459638	C	T	107459638	3	4	270	1	0	0	0	0	1	0	0	0	15221	652	23	1	900	1	ST6GAL2	2	107459638	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1986273	107459638	135739735	176	133676											
RANBP2	5903	broad.mit.edu	37	chr2	109352109	109352109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctagtggaggtgtatcGctcaactaaaagattgaagg	13	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:109352109G>A	uc002tem.3	+	5	653	c.527G>A	c.(526-528)CGC>CAC	p.R176H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	176					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GAGGTGTATCGCTCAACTAAA	0.438													A	109352109	G	A	109352109	3	1	270	1	0	0	0	0	1	0	0	0	13028	1087	38	1	545	1	RANBP2	2	109352109	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1892471	109352109	133847264	177	133677											
GLI2	2736	broad.mit.edu	37	chr2	121728104	121728104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccttcctggcccagcaGcccatggccctcacctccat	6	22	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:121728104G>A	uc010flp.2	+	6	1011	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.3_5'UTR|GLI2_uc002tmu.3_5'UTR|GLI2_uc002tmv.1_Missense_Mutation_p.A198T|GLI2_uc010flo.1_Silent_p.Q202Q|GLI2_uc002tmw.1_Silent_p.Q327Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	327					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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TGGCCCAGCAGCCCATGGCCC	0.637													A	121728104	G	A	121728104	2	1	270	1	0	0	0	0	0	0	0	1	6438	962	34	2		2	GLI2	2	121728104	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	12375995	121728104	121471269	178	133678											
CNTNAP5	129684	broad.mit.edu	37	chr2	125261894	125261894	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactttttcctgctccgAaccacagattgtgcccatca	6	14	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:125261894A>T	uc002tno.2	+	8	1449	c.1085A>T	c.(1084-1086)GAA>GTA	p.E362V	CNTNAP5_uc010flu.2_Missense_Mutation_p.E363V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	362	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCTGCTCCGAACCACAGATT	0.448													T	125261894	A	T	125261894	3	4	270	1	0	0	0	0	1	0	0	0	3650	246	9	5	1115	5	CNTNAP5	2	125261894	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	3533790	125261894	117937479	179	133679											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504945	125504945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacttttgcaattgcgaCgctgacaaggatgaatggta	11	8	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:125504945C>T	uc002tno.2	+	14	2578	c.2214C>T	c.(2212-2214)GAC>GAT	p.D738D	CNTNAP5_uc010flu.2_Silent_p.D739D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	738	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATTGCGACGCTGACAAGG	0.483													T	125504945	C	T	125504945	2	4	270	1	0	0	0	0	0	0	0	1	3650	535	19	1		1	CNTNAP5	2	125504945	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	243051	125504945	117694428	180	133680											
ERCC3	2071	broad.mit.edu	37	chr2	128030517	128030517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctttccccctgagacGtaggtccgtagatatagggt	11	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:128030517G>A	uc002toh.1	-	11	1846	c.1751C>T	c.(1750-1752)ACG>ATG	p.T584M	ERCC3_uc002toe.1_Missense_Mutation_p.T339M|ERCC3_uc002tof.1_Missense_Mutation_p.T520M|ERCC3_uc002tog.1_Missense_Mutation_p.T520M	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	584	Helicase C-terminal.				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			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCCCTGAGACGTAGGTCCGTA	0.433			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	128030517	G	A	128030517	3	1	270	1	0	0	0	0	1	0	0	0	5214	1145	40	1	617	1	ERCC3	2	128030517	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2525572	128030517	115168856	181	133681											
PROC	5624	broad.mit.edu	37	chr2	128184716	128184716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagaagaagctggcctgCggggcagtgctcatccaccc	12	13	2	2	rs141249033		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:128184716C>T	uc002tok.2	+	8	787	c.714C>T	c.(712-714)TGC>TGT	p.C238C	PROC_uc002tol.2_Silent_p.C259C|PROC_uc010yzi.1_Silent_p.C294C|PROC_uc010yzj.1_Silent_p.C133C|PROC_uc010yzk.1_Silent_p.C293C|PROC_uc002tom.2_Silent_p.C272C	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	238	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				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGCTGGCCTGCGGGGCAGTGC	0.617													T	128184716	C	T	128184716	2	4	270	1	0	0	0	0	0	0	0	1	12545	776	27	1		1	PROC	2	128184716	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	154199	128184716	115014657	182	133682											
PLEKHB2	55041	broad.mit.edu	37	chr2	131890540	131890540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacctccaccatacacGgcctatgctgcaccggcccc	6	21	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:131890540G>A	uc002tsg.3	+	6	959	c.399G>A	c.(397-399)ACG>ACA	p.T133T	PLEKHB2_uc002tsh.2_Silent_p.T133T|PLEKHB2_uc002tsj.3_Silent_p.T133T|PLEKHB2_uc002tsf.3_Silent_p.T133T|PLEKHB2_uc010zao.1_Silent_p.T83T|PLEKHB2_uc010zap.1_Silent_p.T133T|PLEKHB2_uc010zaq.1_Intron|PLEKHB2_uc002tsi.3_Silent_p.T174T	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B	133						membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CACCATACACGGCCTATGCTG	0.572													A	131890540	G	A	131890540	2	1	270	1	0	0	0	0	0	0	0	1	12065	1103	39	1		1	PLEKHB2	2	131890540	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3705824	131890540	111308833	183	133683											
LRP1B	53353	broad.mit.edu	37	chr2	141143560	141143560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttacactggaattcatgaGgtccacaagtctttttatct	6	8	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:141143560G>T	uc002tvj.1	-	67	11405	c.10433C>A	c.(10432-10434)CCT>CAT	p.P3478H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3478	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GAATTCATGAGGTCCACAAGT	0.413										TSP Lung(27;0.18)			T	141143560	G	T	141143560	3	4	270	1	0	0	0	0	1	0	0	0	8955	1000	35	5	3466	5	LRP1B	2	141143560	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9253020	141143560	102055813	184	133684											
TNFAIP6	7130	broad.mit.edu	37	chr2	152220529	152220529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctacgcagaagctaaggCggtgtgtgaatttgaaggcg	14	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:152220529C>T	uc002txk.2	+	2	243	c.167C>T	c.(166-168)GCG>GTG	p.A56V		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	56	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		GAAGCTAAGGCGGTGTGTGAA	0.448													T	152220529	C	T	152220529	3	4	270	1	0	0	0	0	1	0	0	0	16272	768	27	1	173	1	TNFAIP6	2	152220529	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	11076969	152220529	90978844	185	133685											
NEB	4703	broad.mit.edu	37	chr2	152342437	152342437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatatagtcatacatggcaCggaagattttctattcgtgg	9	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:152342437C>T	uc010fnx.2	-	149	20038	c.19847G>A	c.(19846-19848)CGT>CAT	p.R6616H	NEB_uc002txr.2_Missense_Mutation_p.R2946H|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.R385H|NEB_uc002txq.2_Missense_Mutation_p.R495H|NEB_uc010zca.1_Missense_Mutation_p.R447H|NEB_uc010zcb.1_Missense_Mutation_p.R385H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6616	SH3.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATACATGGCACGGAAGATTTT	0.398													T	152342437	C	T	152342437	3	4	270	1	0	0	0	0	1	0	0	0	10302	536	19	1	166	1	NEB	2	152342437	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	121908	152342437	90856936	186	133686											
KCNJ3	3760	broad.mit.edu	37	chr2	155566239	155566239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgccacgtgatcgatgCcaaaagccccttttatgacc	7	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:155566239C>T	uc002tyv.1	+	2	1022	c.827C>T	c.(826-828)GCC>GTC	p.A276V	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	276	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	GTGATCGATGCCAAAAGCCCC	0.463													T	155566239	C	T	155566239	3	4	270	1	0	0	0	0	1	0	0	0	8052	739	26	2	833	2	KCNJ3	2	155566239	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3223802	155566239	87633134	187	133687											
GPD2	2820	broad.mit.edu	37	chr2	157407179	157407179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctttcacggactctgtgCgcaaaatggatgataaagac	10	9	2	2	rs141792291	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:157407179C>T	uc002tzf.3	+	8	1252	c.892C>T	c.(892-894)CGC>TGC	p.R298C	GPD2_uc010zch.1_Missense_Mutation_p.R71C|GPD2_uc002tzd.3_Missense_Mutation_p.R298C|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	298					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						GGACTCTGTGCGCAAAATGGA	0.473													T	157407179	C	T	157407179	3	4	270	1	0	0	0	0	1	0	0	0	6606	768	27	1	918	1	GPD2	2	157407179	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1840940	157407179	85792194	188	133688											
CYTIP	9595	broad.mit.edu	37	chr2	158272437	158272437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcatcatctgtactcgTctgccgactgaaggcacccc	8	16	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:158272437T>C	uc002tzj.1	-	8	904	c.832A>G	c.(832-834)ACG>GCG	p.T278A	CYTIP_uc010zcl.1_Missense_Mutation_p.T172A	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						TCTGTACTCGTCTGCCGACTG	0.547													C	158272437	T	C	158272437	3	2	270	1	0	0	0	0	1	0	0	0	4207	1667	58	3	251	3	CYTIP	2	158272437	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	865258	158272437	84926936	189	133689											
PKP4	8502	broad.mit.edu	37	chr2	159523059	159523059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatggcactagatgttcgCaacaaggagctcataggtat	10	7	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:159523059C>T	uc002tzv.2	+	16	2972	c.2712C>T	c.(2710-2712)CGC>CGT	p.R904R	PKP4_uc002tzu.2_Silent_p.R904R|PKP4_uc002tzw.2_Silent_p.R904R|PKP4_uc002tzx.2_Silent_p.R561R|PKP4_uc002uaa.2_Silent_p.R756R|uc002uab.1_Intron|PKP4_uc002uac.2_Silent_p.R85R|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	904					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						TAGATGTTCGCAACAAGGAGC	0.413										HNSCC(62;0.18)			T	159523059	C	T	159523059	2	4	270	1	0	0	0	0	0	0	0	1	11987	697	25	2		2	PKP4	2	159523059	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1250622	159523059	83676314	190	133690											
PKP4	8502	broad.mit.edu	37	chr2	159530257	159530257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcaatatcgggacctccGgagcatttataaaaaggtaa	10	7	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:159530257G>A	uc002tzv.2	+	18	3253	c.2993G>A	c.(2992-2994)CGG>CAG	p.R998Q	PKP4_uc002tzw.2_Missense_Mutation_p.R998Q|PKP4_uc002tzx.2_Missense_Mutation_p.R655Q|PKP4_uc002uaa.2_Missense_Mutation_p.R850Q|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R179Q|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_Missense_Mutation_p.R85Q	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	998					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						CGGGACCTCCGGAGCATTTAT	0.383										HNSCC(62;0.18)			A	159530257	G	A	159530257	3	1	270	1	0	0	0	0	1	0	0	0	11987	1116	39	1	3059	1	PKP4	2	159530257	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7198	159530257	83669116	191	133691											
FIGN	55137	broad.mit.edu	37	chr2	164467489	164467489	+	Frame_Shift_Del	DEL	G	G	-													aggaacagtggtggggggtaGgggggtgggagcaggaattc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:164467488_164467488AG>A	uc002uck.1	-	2	1165	c.854_854CT>T	c.(853-855)ctafs	p.L285fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	285	Pro-rich.					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						GGTGGGGGGTAGGGGGGTGGG	0.597													-	164467489	G	-	164467489	7	5	270	1	0	1	0	1	0	0	0	0	5891	991	35	0	1430	0	FIGN	2	164467489	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	4937232	164467489	78731884	192	133692											
SCN1A	6323	broad.mit.edu	37	chr2	166894493	166894493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaatctttgtagcttttAccaaagagctgcatgccgac	7	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:166894493A>G	uc010zcz.1	-	15	2724	c.2706T>C	c.(2704-2706)GGT>GGC	p.G902G	SCN1A_uc002udo.3_Silent_p.G782G|SCN1A_uc010fpk.2_Silent_p.G754G	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	913	II.|Helical; Name=S5 of repeat II; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTAGCTTTTACCAAAGAGCT	0.493													G	166894493	A	G	166894493	2	3	270	1	0	0	0	0	0	0	0	1	13914	378	14	3		3	SCN1A	2	166894493	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2427004	166894493	76304880	193	133693											
LRP2	4036	broad.mit.edu	37	chr2	169989169	169989169	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacttccataattcttattaTccacattttcagatacagtc	3	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:169989169T>A	uc002ues.2	-	77	13856	c.13643A>T	c.(13642-13644)GAT>GTT	p.D4548V		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4548	Cytoplasmic (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	ATTCTTATTATCCACATTTTC	0.383													A	169989169	T	A	169989169	3	1	270	1	0	0	0	0	1	0	0	0	8956	1435	50	5	336	5	LRP2	2	169989169	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3094676	169989169	73210204	194	133694											
LRP2	4036	broad.mit.edu	37	chr2	170101377	170101377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcgttgcgtttgtcacAgcgccagtgtgcaggaatgc	13	10	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:170101377A>G	uc002ues.2	-	22	3469	c.3256T>C	c.(3256-3258)TGT>CGT	p.C1086R	LRP2_uc010zdf.1_Missense_Mutation_p.C949R	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1086	LDL-receptor class A 9.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	CGTTTGTCACAGCGCCAGTGT	0.507													G	170101377	A	G	170101377	3	3	270	1	0	0	0	0	1	0	0	0	8956	188	7	3	10943	3	LRP2	2	170101377	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	112208	170101377	73097996	195	133695											
DCAF17	80067	broad.mit.edu	37	chr2	172300086	172300086	+	Frame_Shift_Del	DEL	A	A	-													gccaaaatgttccaaatcagAaaaaatagaggatgctttat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:172300085_172300085GA>G	uc002ugx.3	+	2	610	c.283_283GA>G	c.(283-285)gaafs	p.E95fs	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Frame_Shift_Del_p.E95fs	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	95						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTCCAAATCAGAAAAAATAGA	0.318													-	172300086	A	-	172300086	7	5	270	1	0	1	0	1	0	0	0	0	4269	246	9	0	294	0	DCAF17	2	172300086	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	2198709	172300086	70899287	196	133696											
RAPGEF4	11069	broad.mit.edu	37	chr2	173850209	173850209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttgagtctcacgccaaaGgagggactgtgtgtaagtga	13	6	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:173850209G>A	uc002uhv.3	+	12	1325	c.1138G>A	c.(1138-1140)GGA>AGA	p.G380R	RAPGEF4_uc002uhu.2_Missense_Mutation_p.G380R|RAPGEF4_uc002uhw.3_Missense_Mutation_p.G236R|RAPGEF4_uc010zec.1_Missense_Mutation_p.G227R|RAPGEF4_uc010zed.1_Missense_Mutation_p.G209R|RAPGEF4_uc010zee.1_Missense_Mutation_p.G227R|RAPGEF4_uc010fqo.2_Missense_Mutation_p.G209R|RAPGEF4_uc010zef.1_Missense_Mutation_p.G160R|RAPGEF4_uc010zeg.1_Missense_Mutation_p.G207R|RAPGEF4_uc010fqp.1_Missense_Mutation_p.G160R|RAPGEF4_uc010zeh.1_Missense_Mutation_p.G160R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	380	cAMP 2.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCACGCCAAAGGAGGGACTGT	0.512													A	173850209	G	A	173850209	3	1	270	1	0	0	0	0	1	0	0	0	13046	1001	35	4	1200	4	RAPGEF4	2	173850209	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1550123	173850209	69349164	197	133697											
RAPGEF4	11069	broad.mit.edu	37	chr2	173885388	173885388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtttcagtatttacgaCgctcaccattaatggacgcc	8	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:173885388C>T	uc002uhv.3	+	23	2385	c.2198C>T	c.(2197-2199)ACG>ATG	p.T733M	RAPGEF4_uc002uhw.3_Missense_Mutation_p.T589M	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	733					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTATTTACGACGCTCACCATT	0.438													T	173885388	C	T	173885388	3	4	270	1	0	0	0	0	1	0	0	0	13046	536	19	1	2304	1	RAPGEF4	2	173885388	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	35179	173885388	69313985	198	133698											
PRKRA	8575	broad.mit.edu	37	chr2	179309177	179309177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccaataggattaagctggTtctttggttgcttggaaggg	13	5	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179309177T>C	uc002umf.2	-	4	569	c.368A>G	c.(367-369)AAC>AGC	p.N123S	PRKRA_uc002umc.2_5'Flank|PRKRA_uc002umd.2_Missense_Mutation_p.N98S|PRKRA_uc002ume.2_Missense_Mutation_p.N112S|PRKRA_uc002umg.2_Missense_Mutation_p.N10S	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	123	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTAAGCTGGTTCTTTGGTTG	0.353													C	179309177	T	C	179309177	3	2	270	1	0	0	0	0	1	0	0	0	12524	1725	60	3	593	3	PRKRA	2	179309177	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	5423789	179309177	63890196	199	133699											
TTN	7273	broad.mit.edu	37	chr2	179395781	179395781	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagcctggactgaagagatCtcaaaggttgatttgtactt	11	6	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179395781C>A	uc010zfg.1	-	307	98081	c.97857G>T	c.(97855-97857)GAG>GAT	p.E32619D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26314D|TTN_uc010zfi.1_Missense_Mutation_p.E26247D|TTN_uc010zfj.1_Missense_Mutation_p.E26122D|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33546							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAGAGATCTCAAAGGTTG	0.488													A	179395781	C	A	179395781	3	1	270	1	0	0	0	0	1	0	0	0	16732	912	32	5	2438	5	TTN	2	179395781	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	86604	179395781	63803592	200	133700											
TTN	7273	broad.mit.edu	37	chr2	179401935	179401935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagttcttcaatagagcttCgatcacaattggtcctgtag	10	8	3	1	rs72648278		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179401935C>T	uc010zfg.1	-	305	92421	c.92197G>A	c.(92197-92199)GAA>AAA	p.E30733K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24428K|TTN_uc010zfi.1_Missense_Mutation_p.E24361K|TTN_uc010zfj.1_Missense_Mutation_p.E24236K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31660							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAGAGCTTCGATCACAATT	0.428													T	179401935	C	T	179401935	3	4	270	1	0	0	0	0	1	0	0	0	16732	893	31	1	8106	1	TTN	2	179401935	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6154	179401935	63797438	201	133701											
TTN	7273	broad.mit.edu	37	chr2	179402474	179402474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgtaagagtgtgtgtgcGtccatctgaagacattttgt	11	6	1	3	rs143556947	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179402474G>A	uc010zfg.1	-	304	91980	c.91756C>T	c.(91756-91758)CGC>TGC	p.R30586C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24281C|TTN_uc010zfi.1_Missense_Mutation_p.R24214C|TTN_uc010zfj.1_Missense_Mutation_p.R24089C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31513							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTGTGTGCGTCCATCTGAA	0.423													A	179402474	G	A	179402474	3	1	270	1	0	0	0	0	1	0	0	0	16732	1145	40	1	8551	1	TTN	2	179402474	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	539	179402474	63796899	202	133702											
TTN	7273	broad.mit.edu	37	chr2	179424199	179424199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccatgctttcttgctgGcctcacgtttttctatgtgg	9	11	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179424199G>A	uc010zfg.1	-	275	79180	c.78956C>T	c.(78955-78957)GCC>GTC	p.A26319V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A20014V|TTN_uc010zfi.1_Missense_Mutation_p.A19947V|TTN_uc010zfj.1_Missense_Mutation_p.A19822V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27246							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTGCTGGCCTCACGTTT	0.443													A	179424199	G	A	179424199	3	1	270	1	0	0	0	0	1	0	0	0	16732	1203	42	2	21467	2	TTN	2	179424199	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	21725	179424199	63775174	203	133703											
TTN	7273	broad.mit.edu	37	chr2	179605033	179605033	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcattttccagtggAtttgcactttctatcaaaat	6	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179605033A>G	uc010zfh.1	-	46	12638	c.12414T>C	c.(12412-12414)AAT>AAC	p.N4138N	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.N4071N|TTN_uc010zfj.1_Silent_p.N3946N|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCAGTGGATTTGCACTTT	0.438													G	179605033	A	G	179605033	2	3	270	1	0	0	0	0	0	0	0	1	16732	330	12	3		3	TTN	2	179605033	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	180834	179605033	63594340	204	133704											
TTN	7273	broad.mit.edu	37	chr2	179621192	179621192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgtgtcaccgcactttaCagtgacgtcctgaagatgca	10	12	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179621192C>A	uc010zfh.1	-	44	10722	c.10498G>T	c.(10498-10500)GTA>TTA	p.V3500L	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGCACTTTACAGTGACGTCC	0.453													A	179621192	C	A	179621192	3	1	270	1	0	0	0	0	1	0	0	0	16732	478	17	5	100245	5	TTN	2	179621192	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	16159	179621192	63578181	205	133705											
TTN	7273	broad.mit.edu	37	chr2	179640696	179640696	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggtgtcaacaggtctAtccactttttgtacttcaaa	7	9	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179640696A>G	uc010zfg.1	-	28	6119	c.5895T>C	c.(5893-5895)GAT>GAC	p.D1965D	TTN_uc010zfh.1_Silent_p.D1919D|TTN_uc010zfi.1_Silent_p.D1919D|TTN_uc010zfj.1_Silent_p.D1919D|TTN_uc002unb.2_Silent_p.D1965D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1965							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAGGTCTATCCACTTTTT	0.448													G	179640696	A	G	179640696	2	3	270	1	0	0	0	0	0	0	0	1	16732	446	16	3		3	TTN	2	179640696	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	19504	179640696	63558677	206	133706											
COL3A1	1281	broad.mit.edu	37	chr2	189855752	189855752	+	Frame_Shift_Del	DEL	A	A	-													cttcgatggacgaaatggagAaaagggtgaaacaggtgctc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:189855751_189855751GA>G	uc002uqj.1	+	10	937	c.820_820GA>G	c.(820-822)gaafs	p.E274fs	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	274	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)	ACGAAATGGAGAAAAGGGTGA	0.284													-	189855752	A	-	189855752	7	5	270	1	0	1	0	1	0	0	0	0	3688	246	9	0	863	0	COL3A1	2	189855752	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	10215056	189855752	53343621	207	133707											
NAB1	4664	broad.mit.edu	37	chr2	191524446	191524446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagacctgggctcccccGcgtccccaaaggagagcagt	12	16	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:191524446G>A	uc002usb.2	+	4	1116	c.544G>A	c.(544-546)GCG>ACG	p.A182T	NAB1_uc010fsc.2_Missense_Mutation_p.A182T|NAB1_uc010fsd.2_Missense_Mutation_p.A182T|NAB1_uc002usc.2_Missense_Mutation_p.A182T|NAB1_uc010zgh.1_Missense_Mutation_p.A182T	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	182					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GGGCTCCCCCGCGTCCCCAAA	0.627													A	191524446	G	A	191524446	3	1	270	1	0	0	0	0	1	0	0	0	10131	1087	38	1	546	1	NAB1	2	191524446	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1668694	191524446	51674927	208	133708											
SF3B1	23451	broad.mit.edu	37	chr2	198265472	198265472	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaaagcataaagaatAccatcaatcagttgttcttc	6	8	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:198265472A>G	uc002uue.2	-	18	2733	c.2685T>C	c.(2683-2685)GGT>GGC	p.G895G		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	895					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATAAAGAATACCATCAATCA	0.323													G	198265472	A	G	198265472	2	3	270	1	0	0	0	0	0	0	0	1	14149	378	14	3		3	SF3B1	2	198265472	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	6741026	198265472	44933901	209	133709											
KCTD18	130535	broad.mit.edu	37	chr2	201354988	201354988	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctttatcacccgctggggTgtaggcttcttgtcggagag	14	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:201354988T>A	uc002uvs.2	-	7	1633	c.1116A>T	c.(1114-1116)ACA>ACT	p.T372T	KCTD18_uc002uvt.2_Silent_p.T372T	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	372						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						CCCGCTGGGGTGTAGGCTTCT	0.647													A	201354988	T	A	201354988	2	1	270	1	0	0	0	0	0	0	0	1	8105	1683	59	5		5	KCTD18	2	201354988	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3089516	201354988	41844385	210	133710											
STRADB	55437	broad.mit.edu	37	chr2	202323572	202323572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaacagtctgaaaccagTatccatcaatacttggtaag	7	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:202323572T>C	uc002uyd.3	+	3	443	c.78T>C	c.(76-78)AGT>AGC	p.S26S		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	26					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			skin(2)|stomach(1)|lung(1)	4						CTGAAACCAGTATCCATCAAT	0.229													C	202323572	T	C	202323572	2	2	270	1	0	0	0	0	0	0	0	1	15324	1635	57	3		3	STRADB	2	202323572	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	968584	202323572	40875801	211	133711											
ALS2CR8	79800	broad.mit.edu	37	chr2	203807539	203807539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttttgcccatcactactcGtgaagcaaataattcactca	5	11	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:203807539G>A	uc002uzo.2	+	4	435	c.155G>A	c.(154-156)CGT>CAT	p.R52H	ALS2CR8_uc002uzn.2_Intron|ALS2CR8_uc002uzm.2_Missense_Mutation_p.R52H|ALS2CR8_uc010zhy.1_Missense_Mutation_p.R52H|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Intron|ALS2CR8_uc010zib.1_Intron|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.R52H	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	52										large_intestine(1)|ovary(1)	2						ATCACTACTCGTGAAGCAAAT	0.408													A	203807539	G	A	203807539	3	1	270	1	0	0	0	0	1	0	0	0	555	1145	40	1	161	1	ALS2CR8	2	203807539	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1483967	203807539	39391834	212	133712											
NDUFS1	4719	broad.mit.edu	37	chr2	207009720	207009720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacaatattacttccaacCgcatccattacatcaatgga	3	13	1	0	rs148726142		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:207009720C>T	uc002vbe.2	-	9	895	c.768G>A	c.(766-768)GCG>GCA	p.A256A	NDUFS1_uc010ziq.1_Silent_p.A270A|NDUFS1_uc010zir.1_Silent_p.A220A|NDUFS1_uc010zis.1_Silent_p.A199A|NDUFS1_uc010zit.1_Silent_p.A145A|NDUFS1_uc010ziu.1_Silent_p.A140A	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	256					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	TACTTCCAACCGCATCCATTA	0.393													T	207009720	C	T	207009720	2	4	270	1	0	0	0	0	0	0	0	1	10291	639	23	1		1	NDUFS1	2	207009720	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3202181	207009720	36189653	213	133713											
CRYGB	1419	broad.mit.edu	37	chr2	209010499	209010499	+	Splice_Site	DEL	G	G	-													aagacagagccacactcaccGgggggatgaggcagcaggag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:209010498_209010498CG>C	uc002vcp.4	-	2	285	c.252_splice	c.e2+1	p.P84_splice	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	84	Connecting peptide.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCACACTCACCGGGGGGATGA	0.498													-	209010499	G	-	209010499	8	5	270	1	0	1	0	1	0	0	1	0	3915	1130	39	0	284	0	CRYGB	2	209010499	Splice_Site	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	2000779	209010499	34188874	214	133714											
SPAG16	79582	broad.mit.edu	37	chr2	214160816	214160816	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataactgaagcatctgaagaTgactatgaatatgaagaggt	10	4	1	7			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:214160816T>C	uc002veq.2	+	2	257	c.165T>C	c.(163-165)GAT>GAC	p.D55D	SPAG16_uc010fuz.1_5'UTR|SPAG16_uc002ver.2_5'UTR|SPAG16_uc010zjk.1_Missense_Mutation_p.M1T|SPAG16_uc002veo.2_Silent_p.D55D|SPAG16_uc002vep.1_Silent_p.D55D|SPAG16_uc002ves.1_Intron	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	55					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		CATCTGAAGATGACTATGAAT	0.274													C	214160816	T	C	214160816	2	2	270	1	0	0	0	0	0	0	0	1	14978	1461	51	3		3	SPAG16	2	214160816	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	5150317	214160816	29038557	215	133715											
ABCA12	26154	broad.mit.edu	37	chr2	215876269	215876269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctgggaagagggcagCatggcagttaaatattcagt	14	7	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:215876269C>T	uc002vew.2	-	17	2446	c.2226G>A	c.(2224-2226)ATG>ATA	p.M742I	ABCA12_uc002vev.2_Missense_Mutation_p.M424I|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	742					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		AAGAGGGCAGCATGGCAGTTA	0.393													T	215876269	C	T	215876269	3	4	270	1	0	0	0	0	1	0	0	0	30	710	25	2	5709	2	ABCA12	2	215876269	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1715453	215876269	27323104	216	133716											
ATIC	471	broad.mit.edu	37	chr2	216191614	216191614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacagtacagcaaaggcGtatctcagatgcccttgaga	11	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:216191614G>A	uc002vex.3	+	7	775	c.601G>A	c.(601-603)GTA>ATA	p.V201I	ATIC_uc010zjo.1_Missense_Mutation_p.V142I|ATIC_uc002vey.3_Missense_Mutation_p.V200I	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	201					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		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)	CAGCAAAGGCGTATCTCAGAT	0.468			T	ALK	ALCL								A	216191614	G	A	216191614	3	1	270	1	0	0	0	0	1	0	0	0	1105	1145	40	1	627	1	ATIC	2	216191614	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	315345	216191614	27007759	217	133717											
TNS1	7145	broad.mit.edu	37	chr2	218700748	218700748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactcacctctttgggcCgccctccaggattgagagcg	12	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:218700748C>T	uc002vgt.2	-	18	3217	c.2819G>A	c.(2818-2820)CGG>CAG	p.R940Q	TNS1_uc002vgr.2_Missense_Mutation_p.R940Q|TNS1_uc002vgs.2_Missense_Mutation_p.R940Q|TNS1_uc010zjv.1_Missense_Mutation_p.R940Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	940						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		CTCTTTGGGCCGCCCTCCAGG	0.562													T	218700748	C	T	218700748	3	4	270	1	0	0	0	0	1	0	0	0	16340	652	23	1	2452	1	TNS1	2	218700748	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2509134	218700748	24498625	218	133718											
USP37	57695	broad.mit.edu	37	chr2	219410943	219410943	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcccttaaagtaacttaCgatgatgaatcattttcctt	6	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:219410943C>T	uc002vie.2	-	8	1133	c.680_splice	c.e8+1	p.S227_splice	USP37_uc010fvs.1_Splice_Site_p.S227_splice|USP37_uc010zkf.1_Splice_Site_p.S227_splice|USP37_uc002vif.2_Splice_Site_p.S227_splice|USP37_uc002vig.2_Splice_Site_p.S155_splice|USP37_uc010zkg.1_Splice_Site_p.S227_splice	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		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)		AAGTAACTTACGATGATGAAT	0.343													T	219410943	C	T	219410943	5	4	270	1	0	0	0	0	0	0	1	0	17065	550	19	1	2334	1	USP37	2	219410943	Splice_Site	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	710195	219410943	23788430	219	133719											
CCDC108	255101	broad.mit.edu	37	chr2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-													tcgaagaagaactcggtcatGggggggatataagggtactg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:219892686_219892686TG>T	uc002vjl.1	-	12	1981	c.1897_1897CA>A	c.(1897-1899)atgfs	p.M633fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.M76fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.M622fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.M568fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	633						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)		AACTCGGTCATGGGGGGGATA	0.597													-	219892687	G	-	219892687	7	5	270	1	0	1	0	1	0	0	0	0	2743	1335	47	0	3973	0	CCDC108	2	219892687	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	481744	219892687	23306686	220	133720											
TUBA4A	7277	broad.mit.edu	37	chr2	220115630	220115630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccagggggaagtggatgCgagggtagggcaccaggttg	21	6	0	0	rs141069951		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220115630C>T	uc002vkt.1	-	4	849	c.791G>A	c.(790-792)CGC>CAC	p.R264H	TUBA4A_uc010zkz.1_Missense_Mutation_p.R249H|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	264					'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			ovary(3)	3		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)		GAAGTGGATGCGAGGGTAGGG	0.557													T	220115630	C	T	220115630	3	4	270	1	0	0	0	0	1	0	0	0	16746	768	27	1	559	1	TUBA4A	2	220115630	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	222943	220115630	23083743	221	133721											
SPEG	10290	broad.mit.edu	37	chr2	220354421	220354421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaggggttaaaccagTgtcttcctctactcctgtgt	8	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220354421T>G	uc010fwg.2	+	36	8681	c.8681T>G	c.(8680-8682)GTG>GGG	p.V2894G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2894	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		GTTAAACCAGTGTCTTCCTCT	0.602													G	220354421	T	G	220354421	3	3	270	1	0	0	0	0	1	0	0	0	15035	1696	59	5	8835	5	SPEG	2	220354421	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	238791	220354421	22844952	222	133722											
TMEM198	130612	broad.mit.edu	37	chr2	220413898	220413898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagccggcagcgccgacGcgtgcaactgatgcggattc	13	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220413898G>A	uc002vme.2	+	5	1352	c.767G>A	c.(766-768)CGC>CAC	p.R256H	TMEM198_uc002vmf.2_Missense_Mutation_p.R256H|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	256	Arg-rich.					integral to membrane				ovary(1)	1		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)		CAGCGCCGACGCGTGCAACTG	0.627													A	220413898	G	A	220413898	3	1	270	1	0	0	0	0	1	0	0	0	16116	1087	38	1	777	1	TMEM198	2	220413898	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	59477	220413898	22785475	223	133723											
OBSL1	23363	broad.mit.edu	37	chr2	220421178	220421178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcatcaggacctaacctCgaacatggagccgggcactt	9	14	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220421178C>T	uc010fwk.2	-	13	4391	c.4334G>A	c.(4333-4335)CGA>CAA	p.R1445Q	OBSL1_uc002vmh.1_Missense_Mutation_p.R344Q|OBSL1_uc010zli.1_Missense_Mutation_p.R252Q|OBSL1_uc010fwl.1_Missense_Mutation_p.R920Q	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1445	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		GACCTAACCTCGAACATGGAG	0.597													T	220421178	C	T	220421178	3	4	270	1	0	0	0	0	1	0	0	0	10813	884	31	1	1415	1	OBSL1	2	220421178	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7280	220421178	22778195	224	133724											
EPHA4	2043	broad.mit.edu	37	chr2	222433479	222433479	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatccacccaagttctccctGaacagatctggaatccaata	5	13	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:222433479G>A	uc002vmq.2	-	2	160	c.118C>T	c.(118-120)CAG>TAG	p.Q40*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.Q40*|EPHA4_uc010zlm.1_Intron|EPHA4_uc010zln.1_Nonsense_Mutation_p.Q40*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	40	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		AGTTCTCCCTGAACAGATCTG	0.403													A	222433479	G	A	222433479	4	1	270	1	0	0	0	0	0	1	0	0	5169	1299	45	4	2906	4	EPHA4	2	222433479	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2012301	222433479	20765894	225	133725											
IRS1	3667	broad.mit.edu	37	chr2	227660213	227660213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactttggcactctggttgCggttaggactgaggttcacc	12	10	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227660213C>T	uc002voh.3	-	1	3294	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1081					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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		ACTCTGGTTGCGGTTAGGACT	0.657													T	227660213	C	T	227660213	3	4	270	1	0	0	0	0	1	0	0	0	7840	768	27	1	490	1	IRS1	2	227660213	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5226734	227660213	15539160	226	133726											
IRS1	3667	broad.mit.edu	37	chr2	227662740	227662740	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacagagtcatccacctGcatccagaactccccgggcc	7	19	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227662740G>A	uc002voh.3	-	1	767	c.715C>T	c.(715-717)CAG>TAG	p.Q239*		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	239	IRS-type PTB.				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		TCATCCACCTGCATCCAGAAC	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662740	G	A	227662740	4	1	270	1	0	0	0	0	0	1	0	0	7840	1328	46	2	3017	2	IRS1	2	227662740	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2527	227662740	15536633	227	133727											
IRS1	3667	broad.mit.edu	37	chr2	227663331	227663331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtagtactcgaggcgcgCcgggcccccagcctcgctgg	14	17	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227663331C>T	uc002voh.3	-	1	176	c.124G>A	c.(124-126)GCG>ACG	p.A42T		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	42	PH.|Mediates interaction with PHIP (By similarity).				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		TCGAGGCGCGCCGGGCCCCCA	0.627													T	227663331	C	T	227663331	3	4	270	1	0	0	0	0	1	0	0	0	7840	739	26	2	3608	2	IRS1	2	227663331	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	591	227663331	15536042	228	133728											
COL4A4	1286	broad.mit.edu	37	chr2	227985765	227985765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgctccaggagggcCgcggtcccctctcattcctt	10	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227985765C>T	uc010zlt.1	-	5	946	c.292G>A	c.(292-294)GGC>AGC	p.G98S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	98	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		CCAGGAGGGCCGCGGTCCCCT	0.557													T	227985765	C	T	227985765	3	4	270	1	0	0	0	0	1	0	0	0	3693	652	23	1	4956	1	COL4A4	2	227985765	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	322434	227985765	15213608	229	133729											
SPHKAP	80309	broad.mit.edu	37	chr2	228883949	228883949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttccttgagtccttgggGtgcttgagtttgcagtgcac	14	8	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:228883949G>A	uc002vpq.2	-	7	1668	c.1621C>T	c.(1621-1623)CCC>TCC	p.P541S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P541S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P541S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	541						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		AGTCCTTGGGGTGCTTGAGTT	0.532													A	228883949	G	A	228883949	3	1	270	1	0	0	0	0	1	0	0	0	15047	1261	44	4	3505	4	SPHKAP	2	228883949	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	898184	228883949	14315424	230	133730											
SLC16A14	151473	broad.mit.edu	37	chr2	230911163	230911163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgcgctggcaggccacGcacatctttctctcctgggt	13	13	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:230911163G>A	uc002vqd.1	-	4	1042	c.679C>T	c.(679-681)CGT>TGT	p.R227C	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.R227C|SLC16A14_uc002vqf.2_Missense_Mutation_p.R227C	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	227	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		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)		GGCAGGCCACGCACATCTTTC	0.562													A	230911163	G	A	230911163	3	1	270	1	0	0	0	0	1	0	0	0	14407	1087	38	1	861	1	SLC16A14	2	230911163	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2027214	230911163	12288210	231	133731											
ARMC9	80210	broad.mit.edu	37	chr2	232079591	232079591	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaccagaaggtgttcttCgatctgtgggaggagcacat	15	7	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:232079591C>T	uc002vrq.3	+	4	337	c.225C>T	c.(223-225)TTC>TTT	p.F75F	ARMC9_uc002vrp.3_Silent_p.F75F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	75							binding			ovary(1)	1		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)		AGGTGTTCTTCGATCTGTGGG	0.453													T	232079591	C	T	232079591	2	4	270	1	0	0	0	0	0	0	0	1	958	883	31	1		1	ARMC9	2	232079591	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1168428	232079591	11119782	232	133732											
CHRNG	1146	broad.mit.edu	37	chr2	233410403	233410403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattccctggagatccacgcCcctacctgccctcaccagac	6	20	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:233410403C>A	uc002vsx.1	+	12	1552	c.1531C>A	c.(1531-1533)CCC>ACC	p.P511T	CHRNG_uc010fye.1_Missense_Mutation_p.P459T	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	511					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		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)		AGATCCACGCCCCTACCTGCC	0.602													A	233410403	C	A	233410403	3	1	270	1	0	0	0	0	1	0	0	0	3396	623	22	5	1577	5	CHRNG	2	233410403	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1330812	233410403	9788970	233	133733											
UGT1A8	54576	broad.mit.edu	37	chr2	234526809	234526809	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgatccttttgatgcCtgtggcttaattgttgccaa	8	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:234526809C>A	uc002vup.2	+	1	519	c.456C>A	c.(454-456)GCC>GCA	p.A152A	UGT1A8_uc010zmv.1_Silent_p.A152A	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN	UDP glycosyltransferase 1 family, polypeptide A8	152					drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding			ovary(2)	2		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)		CTTTTGATGCCTGTGGCTTAA	0.428													A	234526809	C	A	234526809	2	1	270	1	0	0	0	0	0	0	0	1	16948	668	24	5		5	UGT1A8	2	234526809	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1116406	234526809	8672564	234	133734											
HJURP	55355	broad.mit.edu	37	chr2	234750011	234750011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaggccaccaggactcGcaggaccccctctgtacatg	10	16	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:234750011G>A	uc002vvg.2	-	8	1481	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	HJURP_uc010znd.1_Missense_Mutation_p.A411V|HJURP_uc010zne.1_Missense_Mutation_p.A380V	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	472					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			ovary(1)	1		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)		ACCAGGACTCGCAGGACCCCC	0.542													A	234750011	G	A	234750011	3	1	270	1	0	0	0	0	1	0	0	0	7189	1087	38	1	839	1	HJURP	2	234750011	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	223202	234750011	8449362	235	133735											
AGAP1	116987	broad.mit.edu	37	chr2	236708038	236708038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggaggtgggagtttaagcGactattcctcctccgttcca	11	10	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:236708038G>A	uc002vvs.2	+	8	1424	c.829G>A	c.(829-831)GAC>AAC	p.D277N	AGAP1_uc002vvt.2_Missense_Mutation_p.D277N	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	277					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GAGTTTAAGCGACTATTCCTC	0.507													A	236708038	G	A	236708038	3	1	270	1	0	0	0	0	1	0	0	0	366	1058	37	1	859	1	AGAP1	2	236708038	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1958027	236708038	6491335	236	133736											
COL6A3	1293	broad.mit.edu	37	chr2	238280583	238280583	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggggccacgccaaactgcttGagctccaccgccgggtcgtc	13	16	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:238280583G>C	uc002vwl.2	-	9	4362	c.4077C>G	c.(4075-4077)CTC>CTG	p.L1359L	COL6A3_uc002vwo.2_Silent_p.L1153L|COL6A3_uc010znj.1_Silent_p.L752L|COL6A3_uc002vwq.2_Silent_p.L1153L|COL6A3_uc002vwr.2_Silent_p.L952L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1359	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CAAACTGCTTGAGCTCCACCG	0.617													C	238280583	G	C	238280583	2	2	270	1	0	0	0	0	0	0	0	1	3701	1277	45	5		5	COL6A3	2	238280583	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1572545	238280583	4918790	237	133737											
SCLY	51540	broad.mit.edu	37	chr2	238976762	238976762	+	Frame_Shift_Del	DEL	G	G	-													aaagcctcgcgaagatgataGgggggaaacctcaagatata					rs76625747	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:238976761_238976761AG>A	uc010fyv.3	+	2	389	c.258_258AG>A	c.(256-258)atafs	p.I86fs	SCLY_uc002vxm.4_Frame_Shift_Del_p.I53fs|SCLY_uc010znr.2_Intron|SCLY_uc010znq.2_Frame_Shift_Del_p.I86fs	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	86					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)		CGAAGATGATAGGGGGGAAAC	0.413													-	238976762	G	-	238976762	7	5	270	1	0	1	0	1	0	0	0	0	13907	1000	35	0	269	0	SCLY	2	238976762	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	696179	238976762	4222611	238	133738											
NDUFA10	4705	broad.mit.edu	37	chr2	240954221	240954222	+	Frame_Shift_Ins	INS	-	-	G													tcgatgtaaatcaccaggtgINSggggggcaggtaatcgcaga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:240954220_240954221T>TG	uc010fzc.2	-	5	825_826	c.724_725A>CA	c.(724-726)cacfs	p.H242fs	NDUFA10_uc002vyn.3_Frame_Shift_Ins_p.H202fs|NDUFA10_uc002vyo.2_Frame_Shift_Ins_p.H202fs	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													G	240954222	-	G	240954221	7	5	270	1	0	1	1	0	0	0	0	0	10260	1348	47	0	487	0	NDUFA10	2	240954221	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1977459	240954221	2245152	239	133739											
OR6B2	389090	broad.mit.edu	37	chr2	240969841	240969841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttggtgacattctccccActcatgcctctgtgcttggg	9	14	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:240969841A>G	uc002vyr.2	-	2	52	c.6T>C	c.(4-6)AGT>AGC	p.S2S	OR6B2_uc010zoc.1_Silent_p.S2S	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		CATTCTCCCCACTCATGCCTC	0.597													G	240969841	A	G	240969841	2	3	270	1	0	0	0	0	0	0	0	1	11188	156	6	3		3	OR6B2	2	240969841	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	15620	240969841	2229532	240	133740											
KIF1A	547	broad.mit.edu	37	chr2	241706349	241706349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taccttcgctgcctcccctgGagtcgctccggaagacgcag	11	16	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:241706349G>T	uc002vzy.2	-	18	1786	c.1640C>A	c.(1639-1641)TCC>TAC	p.S547Y	KIF1A_uc010fzk.2_Missense_Mutation_p.S556Y|KIF1A_uc002vzz.1_Missense_Mutation_p.S556Y	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	547	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		GCCTCCCCTGGAGTCGCTCCG	0.637													T	241706349	G	T	241706349	3	4	270	1	0	0	0	0	1	0	0	0	8283	1174	41	5	3552	5	KIF1A	2	241706349	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	736508	241706349	1493024	241	133741											
ANO7	50636	broad.mit.edu	37	chr2	242154253	242154253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctgatcgagctggcaCaggagctcctggtcatcatg	13	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:242154253C>T	uc002wax.2	+	18	2027	c.1924C>T	c.(1924-1926)CAG>TAG	p.Q642*		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	642	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CGAGCTGGCACAGGAGCTCCT	0.632													T	242154253	C	T	242154253	4	4	270	1	0	0	0	0	0	1	0	0	702	479	17	4	2066	4	ANO7	2	242154253	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	447904	242154253	1045120	242	133742											
HDLBP	3069	broad.mit.edu	37	chr2	242176046	242176046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctccagagcttccttgGcagcctcacacttttctttc	5	15	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:242176046G>A	uc002waz.2	-	21	3116	c.2888C>T	c.(2887-2889)GCC>GTC	p.A963V	HDLBP_uc002wba.2_Missense_Mutation_p.A963V|HDLBP_uc002wbb.2_Missense_Mutation_p.A915V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	963	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		AGCTTCCTTGGCAGCCTCACA	0.612													A	242176046	G	A	242176046	3	1	270	1	0	0	0	0	1	0	0	0	7025	1203	42	2	950	2	HDLBP	2	242176046	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	21793	242176046	1023327	243	133743											
HDLBP	3069	broad.mit.edu	37	chr2	242179429	242179429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcagggaagatgacacGtgctccagtgctgtcgcgca	14	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:242179429G>A	uc002waz.2	-	18	2506	c.2278C>T	c.(2278-2280)CGT>TGT	p.R760C	HDLBP_uc002wba.2_Missense_Mutation_p.R760C|HDLBP_uc002wbb.2_Missense_Mutation_p.R712C	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	760	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		AAGATGACACGTGCTCCAGTG	0.577													A	242179429	G	A	242179429	3	1	270	1	0	0	0	0	1	0	0	0	7025	1145	40	1	1572	1	HDLBP	2	242179429	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3383	242179429	1019944	244	133744											
SRGAP3	9901	broad.mit.edu	37	chr3	9097969	9097969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgcagctggtgataaCgcatgagcagttctgtctgg	14	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:9097969C>T	uc003brf.1	-	8	1749	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	SRGAP3_uc003brg.1_Missense_Mutation_p.R358H|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Missense_Mutation_p.R218H	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	358	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGGTGATAACGCATGAGCAG	0.557			T	RAF1	pilocytic astrocytoma								T	9097969	C	T	9097969	3	4	270	1	0	0	0	0	1	0	0	0	15146	536	19	1	2321	1	SRGAP3	3	9097969	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		9097969	188924461	245	133745											
SETD5	55209	broad.mit.edu	37	chr3	9483391	9483391	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaaagtcatgttacgaCagcaatttgaggtcaatggg	14	5	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:9483391C>T	uc003brt.2	+	9	1360	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	SETD5_uc003brs.1_Nonsense_Mutation_p.Q290*|SETD5_uc003bru.2_Nonsense_Mutation_p.Q211*|SETD5_uc003brv.2_Nonsense_Mutation_p.Q198*|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	309	SET.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CATGTTACGACAGCAATTTGA	0.438													T	9483391	C	T	9483391	4	4	270	1	0	0	0	0	0	1	0	0	14134	479	17	4	951	4	SETD5	3	9483391	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	385422	9483391	188539039	246	133746											
TTLL3	26140	broad.mit.edu	37	chr3	9839414	9839416	+	In_Frame_Del	DEL	CTC	CTC	-													gccctctgcctggagaacttCtcctcccaggttgtggaacg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:9839413_9839415TCTC>T	uc003btd.4	+	1	648_650	c.74_76TCTC>T	c.(73-78)ttctcc>tTcc	p.S27del	TTLL3_uc003btb.2_5'UTR|TTLL3_uc003bta.2_5'UTR|TTLL3_uc003bsz.2_In_Frame_Del_p.S27del|TTLL3_uc003btc.2_5'UTR|TTLL3_uc021wsu.1_In_Frame_Del_p.S46del	NM_001198793	NP_001185722	Q9Y4R7	TTLL3_HUMAN	Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA.	0					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)					CTGGAGAACTTCTCCTCCCAGGT	0.571													-	9839416	CTC	-	9839414	7	5	270	1	0	1	0	1	0	0	0	0	16725	912	32	0		0	TTLL3	3	9839414	In_Frame_Del	DEL	CTC	TCGA-HU-A4GN-01A-11D-A25D-08	356023	9839414	188183016	247	133747											
KCNH8	131096	broad.mit.edu	37	chr3	19559535	19559535	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcaaagcagaggagaCcaagcagcagataaacaaac	8	10	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:19559535C>G	uc003cbk.1	+	15	2783	c.2588C>G	c.(2587-2589)ACC>AGC	p.T863S	KCNH8_uc010hex.1_Missense_Mutation_p.T324S	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	863	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GCAGAGGAGACCAAGCAGCAG	0.403													G	19559535	C	G	19559535	3	3	270	1	0	0	0	0	1	0	0	0	8038	507	18	5	2646	5	KCNH8	3	19559535	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	9720121	19559535	178462895	248	133748											
NKIRAS1	28512	broad.mit.edu	37	chr3	23942333	23942333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttatcgatttctttcTtcagaagctccactctttga	5	10	4	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:23942333T>C	uc003ccj.2	-	4	704	c.302A>G	c.(301-303)AAG>AGG	p.K101R	NKIRAS1_uc003cck.2_Missense_Mutation_p.K101R|NKIRAS1_uc003ccl.2_Missense_Mutation_p.K101R|NKIRAS1_uc003ccm.2_Missense_Mutation_p.K101R	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	101					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0						GATTTCTTTCTTCAGAAGCTC	0.353													C	23942333	T	C	23942333	3	2	270	1	0	0	0	0	1	0	0	0	10444	1609	56	3	284	3	NKIRAS1	3	23942333	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4382798	23942333	174080097	249	133749											
ACAA1	30	broad.mit.edu	37	chr3	38167143	38167143	+	Frame_Shift_Del	DEL	C	C	-													ggtgccctaaggccactgcaCcccccagggggttcaccttc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38167142_38167142AC>A	uc003cht.3	-	10	1320	c.1113_1113GT>T	c.(1111-1113)ggtfs	p.G371fs	ACAA1_uc003chu.3_Frame_Shift_Del_p.G278fs	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	371					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGGCCACTGCACCCCCCAGGG	0.607													-	38167143	C	-	38167143	7	5	270	1	0	1	0	1	0	0	0	0	104	507	18	0	170	0	ACAA1	3	38167143	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	14224810	38167143	159855287	250	133750											
SCN5A	6331	broad.mit.edu	37	chr3	38622836	38622836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcactgaaggagctgagCagcaaggccaggaagagatt	14	8	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38622836C>T	uc003cio.2	-	17	3008	c.2814G>A	c.(2812-2814)CTG>CTA	p.L938L	SCN5A_uc003cin.2_Silent_p.L938L|SCN5A_uc003cil.3_Silent_p.L938L|SCN5A_uc010hhi.2_Silent_p.L938L|SCN5A_uc010hhk.2_Silent_p.L938L|SCN5A_uc011ayr.1_Silent_p.L938L|SCN5A_uc010hhj.1_Silent_p.L549L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	938	Helical; Name=S6 of repeat II; (Potential).				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	AGGAGCTGAGCAGCAAGGCCA	0.522													T	38622836	C	T	38622836	2	4	270	1	0	0	0	0	0	0	0	1	13922	697	25	2		2	SCN5A	3	38622836	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	455693	38622836	159399594	251	133751											
SCN10A	6336	broad.mit.edu	37	chr3	38739984	38739984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggccaattcgggccaggCggatgactctgaagagcgtt	15	10	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38739984C>T	uc003ciq.2	-	27	4727	c.4727G>A	c.(4726-4728)CGC>CAC	p.R1576H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1576	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	TCGGGCCAGGCGGATGACTCT	0.493													T	38739984	C	T	38739984	3	4	270	1	0	0	0	0	1	0	0	0	13912	768	27	1	1147	1	SCN10A	3	38739984	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	117148	38739984	159282446	252	133752											
SCN10A	6336	broad.mit.edu	37	chr3	38768416	38768416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaagagcctgtttggtaCgatggccaaagacctggatc	12	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38768416C>T	uc003ciq.2	-	16	2768	c.2768G>A	c.(2767-2769)CGT>CAT	p.R923H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	923					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	CTGTTTGGTACGATGGCCAAA	0.592													T	38768416	C	T	38768416	3	4	270	1	0	0	0	0	1	0	0	0	13912	536	19	1	3150	1	SCN10A	3	38768416	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	28432	38768416	159254014	253	133753											
SCN11A	11280	broad.mit.edu	37	chr3	38950583	38950583	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgttctgctcctcatatgCcatggtaacaacagccaggg	9	12	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38950583C>G	uc011ays.1	-	9	1403	c.1204G>C	c.(1204-1206)GCA>CCA	p.A402P		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	402	I.|Helical; Name=S6 of repeat I; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCTCATATGCCATGGTAACA	0.473													G	38950583	C	G	38950583	3	3	270	1	0	0	0	0	1	0	0	0	13913	739	26	5	4243	5	SCN11A	3	38950583	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	182167	38950583	159071847	254	133754											
SCN11A	11280	broad.mit.edu	37	chr3	38950604	38950604	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggtaacaacagccagggTtaagttaatcaggtagaagg	12	6	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38950604T>G	uc011ays.1	-	9	1382	c.1183A>C	c.(1183-1185)ACC>CCC	p.T395P		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	395	I.|Helical; Name=S6 of repeat I; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACAGCCAGGGTTAAGTTAATC	0.478													G	38950604	T	G	38950604	3	3	270	1	0	0	0	0	1	0	0	0	13913	1725	60	5	4264	5	SCN11A	3	38950604	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	21	38950604	159071826	255	133755											
NKTR	4820	broad.mit.edu	37	chr3	42679036	42679037	+	Frame_Shift_Ins	INS	-	-	C													aataccactgagtgacagtcINScccccccttcaagatggaag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:42679035_42679036T>TC	uc003clo.3	+	12	1986_1987	c.1839_1840T>TC	c.(1837-1842)agtcccfs	p.S613fs	NKTR_uc003clm.1_Frame_Shift_Ins_p.S360fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Ins_p.S360fs|NKTR_uc003clq.1_Frame_Shift_Ins_p.S503fs|NKTR_uc003clr.1_Frame_Shift_Ins_p.S360fs|NKTR_uc003cls.3_Frame_Shift_Ins_p.S313fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	613					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)		TGAGTGACAGTCCCCCCCCTTC	0.421													C	42679037	-	C	42679036	7	5	270	1	0	1	1	0	0	0	0	0	10448	855	30	0	1886	0	NKTR	3	42679036	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	3728432	42679036	155343394	256	133756											
ANO10	55129	broad.mit.edu	37	chr3	43596770	43596770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttttctcaaacaattacCtgccacacaccaatattggc	3	12	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:43596770C>A	uc003cmv.2	-	10	1839	c.1668G>T	c.(1666-1668)CAG>CAT	p.Q556H	ANO10_uc011azs.1_Missense_Mutation_p.Q556H|ANO10_uc003cmw.2_Missense_Mutation_p.Q490H|ANO10_uc010hil.2_Missense_Mutation_p.Q366H|ANO10_uc011azt.1_Missense_Mutation_p.Q445H	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	556	Helical; (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						AAACAATTACCTGCCACACAC	0.303													A	43596770	C	A	43596770	3	1	270	1	0	0	0	0	1	0	0	0	696	695	24	5	330	5	ANO10	3	43596770	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	917734	43596770	154425660	257	133757											
ZNF445	353274	broad.mit.edu	37	chr3	44490207	44490207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatttaagatgaatttgTttgttttactctggaggtca	9	5	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:44490207T>C	uc003cnf.2	-	8	1304	c.956A>G	c.(955-957)AAC>AGC	p.N319S	ZNF445_uc011azv.1_Missense_Mutation_p.N307S|ZNF445_uc011azw.1_Missense_Mutation_p.N319S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	319					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GATGAATTTGTTTGTTTTACT	0.408													C	44490207	T	C	44490207	3	2	270	1	0	0	0	0	1	0	0	0	17915	1725	60	3	2143	3	ZNF445	3	44490207	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	893437	44490207	153532223	258	133758											
ZNF35	7584	broad.mit.edu	37	chr3	44700257	44700257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgaggaagctgaaaaAcccctcatcatatcagaaag	8	8	3	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:44700257A>C	uc003cnq.2	+	4	623	c.402A>C	c.(400-402)AAA>AAC	p.K134N	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	134	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAGCTGAAAAACCCCTCATCA	0.393													C	44700257	A	C	44700257	3	2	270	1	0	0	0	0	1	0	0	0	17859	40	2	5	412	5	ZNF35	3	44700257	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	210050	44700257	153322173	259	133759											
CLEC3B	7123	broad.mit.edu	37	chr3	45077258	45077258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggacatgaccggcgccCgcatcgcctacaagaactgg	14	13	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:45077258C>T	uc003cok.3	+	3	547	c.451C>T	c.(451-453)CGC>TGC	p.R151C	CLEC3B_uc003col.2_Missense_Mutation_p.R109C	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	151	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCGGCGCCCGCATCGCCTA	0.662													T	45077258	C	T	45077258	3	4	270	1	0	0	0	0	1	0	0	0	3511	652	23	1	461	1	CLEC3B	3	45077258	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	377001	45077258	152945172	260	133760											
XCR1	2829	broad.mit.edu	37	chr3	46062922	46062922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcggaataatcacagcccGaagaaagcaccttgtggaag	11	9	1	1	rs78405233	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:46062922G>A	uc003cpe.2	-	3	742	c.518C>T	c.(517-519)TCG>TTG	p.S173L	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.S173L	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	173	Extracellular (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATCACAGCCCGAAGAAAGCAC	0.577													A	46062922	G	A	46062922	3	1	270	1	0	0	0	0	1	0	0	0	17422	1059	37	1	487	1	XCR1	3	46062922	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	985664	46062922	151959508	261	133761											
CCR3	1232	broad.mit.edu	37	chr3	46307587	46307587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttccggaagtacctgcGccacttcttccacaggcact	10	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:46307587G>A	uc003cpg.1	+	4	1481	c.938G>A	c.(937-939)CGC>CAC	p.R313H	CCR3_uc003cpi.1_Missense_Mutation_p.R313H|CCR3_uc003cpj.1_Missense_Mutation_p.R313H|CCR3_uc003cpk.1_Missense_Mutation_p.R334H|CCR3_uc010hjb.1_Missense_Mutation_p.R331H|CCR3_uc003cpl.1_Missense_Mutation_p.R346H	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	313	Cytoplasmic (Potential).				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				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AAGTACCTGCGCCACTTCTTC	0.547													A	46307587	G	A	46307587	3	1	270	1	0	0	0	0	1	0	0	0	2942	1087	38	1	1007	1	CCR3	3	46307587	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	244665	46307587	151714843	262	133762											
LRRC2	79442	broad.mit.edu	37	chr3	46560523	46560523	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaaagttgaaggctaaaaGacactttggtggtatagctg	11	5	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:46560523G>T	uc010hji.2	-	9	1461	c.1097C>A	c.(1096-1098)TCT>TAT	p.S366Y	LRRC2_uc003cpu.3_Missense_Mutation_p.S366Y	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	366										ovary(1)	1		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)		AAGGCTAAAAGACACTTTGGT	0.338													T	46560523	G	T	46560523	3	4	270	1	0	0	0	0	1	0	0	0	8976	942	33	5	22	5	LRRC2	3	46560523	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	252936	46560523	151461907	263	133763											
NBEAL2	23218	broad.mit.edu	37	chr3	47037022	47037022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgtacagcgatggccAgggcctggcttcacctttca	10	16	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:47037022A>G	uc003cqp.2	+	13	1976	c.1797A>G	c.(1795-1797)CCA>CCG	p.P599P	NBEAL2_uc003cqq.1_Silent_p.P565P|NBEAL2_uc010hjm.1_Silent_p.P160P	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	599							binding			ovary(1)	1		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)		AGCGATGGCCAGGGCCTGGCT	0.627													G	47037022	A	G	47037022	2	3	270	1	0	0	0	0	0	0	0	1	10189	175	7	3		3	NBEAL2	3	47037022	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	476499	47037022	150985408	264	133764											
CELSR3	1951	broad.mit.edu	37	chr3	48696844	48696844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatgctattctctttcaccCgcacctcaaactcctcagct	3	17	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:48696844C>A	uc003cul.2	-	1	3505	c.3224G>T	c.(3223-3225)CGG>CTG	p.R1075L	CELSR3_uc003cuf.1_Missense_Mutation_p.R1145L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1075	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.R1075R(1)		ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCTTTCACCCGCACCTCAAA	0.557													A	48696844	C	A	48696844	3	1	270	1	0	0	0	0	1	0	0	0	3223	652	23	5	6854	5	CELSR3	3	48696844	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1659822	48696844	149325586	265	133765											
LAMB2	3913	broad.mit.edu	37	chr3	49160752	49160752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggctgaggtattggcaCgacgttctgcctctgcagac	13	12	2	2	rs149144377		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:49160752C>T	uc003cwe.2	-	26	4336	c.4037G>A	c.(4036-4038)CGT>CAT	p.R1346H	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1346	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTATTGGCACGACGTTCTGC	0.577													T	49160752	C	T	49160752	3	4	270	1	0	0	0	0	1	0	0	0	8611	536	19	1	1387	1	LAMB2	3	49160752	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	463908	49160752	148861678	266	133766											
APEH	327	broad.mit.edu	37	chr3	49716378	49716378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactcggctcagcgcagccGgcaggtgagggacgctgatt	16	11	1	3	rs145125345		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:49716378G>A	uc003cxf.2	+	12	1554	c.1154G>A	c.(1153-1155)CGG>CAG	p.R385Q	APEH_uc010hkw.1_Missense_Mutation_p.R385Q	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	385					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGCAGCCGGCAGGTGAGG	0.607													A	49716378	G	A	49716378	3	1	270	1	0	0	0	0	1	0	0	0	768	1116	39	1	1200	1	APEH	3	49716378	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	555626	49716378	148306052	267	133767											
RBM5	10181	broad.mit.edu	37	chr3	50150940	50150942	+	In_Frame_Del	DEL	AGA	AGA	-													tcctgcaaaagaggggaaagAgaagaaggagaaacccaaga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:50150939_50150941GAGA>G	uc003cyg.3	+	17	1754_1756	c.1579_1581GAGA>G	c.(1579-1581)gag>G	p.E527del	RBM5_uc011bdj.2_In_Frame_Del_p.E471del|RBM5_uc011bdk.2_In_Frame_Del_p.E355del|RBM5_uc003cyh.3_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	527	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				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)		AGAGGGGAAAGAGAAGAAGGAGA	0.502													-	50150942	AGA	-	50150940	7	5	270	1	0	1	0	1	0	0	0	0	13143	304	11	0	1646	0	RBM5	3	50150940	In_Frame_Del	DEL	AGA	TCGA-HU-A4GN-01A-11D-A25D-08	434562	50150940	147871490	268	133768											
HEMK1	51409	broad.mit.edu	37	chr3	50617831	50617831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccggttcctgcatatcCggaggtctgggccatagcat	13	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:50617831C>T	uc003dau.2	+	11	1296	c.1000C>T	c.(1000-1002)CGG>TGG	p.R334W	HEMK1_uc003dav.2_Missense_Mutation_p.R334W|HEMK1_uc003daw.2_Missense_Mutation_p.R334W	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	334					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CCTGCATATCCGGAGGTCTGG	0.617													T	50617831	C	T	50617831	3	4	270	1	0	0	0	0	1	0	0	0	7051	643	23	1	1038	1	HEMK1	3	50617831	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	466891	50617831	147404599	269	133769											
PPM1M	132160	broad.mit.edu	37	chr3	52282240	52282240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagactgagcggcagcGgatccagcagctggtaggtg	16	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:52282240G>A	uc003ddf.3	+	5	664	c.299G>A	c.(298-300)CGG>CAG	p.R100Q	PPM1M_uc011bed.1_Missense_Mutation_p.R261Q|PPM1M_uc010hmd.2_Missense_Mutation_p.R100Q|PPM1M_uc003ddg.3_Missense_Mutation_p.R49Q|PPM1M_uc003ddh.3_5'Flank			Q96MI6	PPM1M_HUMAN	RecName: Full=Protein phosphatase 1M;          EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta;          Short=PP2C-eta;          Short=PP2CE;	100	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding				0				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GAGCGGCAGCGGATCCAGCAG	0.592													A	52282240	G	A	52282240	3	1	270	1	0	0	0	0	1	0	0	0	12345	1116	39	1	309	1	PPM1M	3	52282240	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1664409	52282240	145740190	270	133770											
GLT8D1	55830	broad.mit.edu	37	chr3	52730630	52730630	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttagggtcaaaattgacAattttgtatctgatgctttt	8	4	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:52730630A>C	uc003dfi.3	-	5	514	c.375T>G	c.(373-375)ATT>ATG	p.I125M	GLT8D1_uc003dfj.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfk.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfl.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfm.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfn.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfo.1_Missense_Mutation_p.I125M	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	125	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAAAATTGACAATTTTGTATC	0.393													C	52730630	A	C	52730630	3	2	270	1	0	0	0	0	1	0	0	0	6469	126	5	5	764	5	GLT8D1	3	52730630	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	448390	52730630	145291800	271	133771											
ITIH4	3700	broad.mit.edu	37	chr3	52860835	52860835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgaccagctgctggggcCgcactttcagcagcagctcg	13	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:52860835C>T	uc003dfz.2	-	4	527	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_Missense_Mutation_p.R40Q|ITIH4_uc011bem.1_Missense_Mutation_p.R164Q|ITIH4_uc011ben.1_Missense_Mutation_p.R164Q	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	164					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				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)		CTGCTGGGGCCGCACTTTCAG	0.612													T	52860835	C	T	52860835	3	4	270	1	0	0	0	0	1	0	0	0	7906	652	23	1	2385	1	ITIH4	3	52860835	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	130205	52860835	145161595	272	133772											
PRKCD	5580	broad.mit.edu	37	chr3	53212511	53212511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccgaggacgaggcgaacCagcccttctgtgccgtgaag	15	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:53212511C>T	uc003dgl.2	+	3	426	c.73C>T	c.(73-75)CAG>TAG	p.Q25*	PRKCD_uc003dgm.2_Nonsense_Mutation_p.Q25*|PRKCD_uc003dgn.2_Nonsense_Mutation_p.Q25*	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	25	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			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		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)		CGAGGCGAACCAGCCCTTCTG	0.657													T	53212511	C	T	53212511	4	4	270	1	0	0	0	0	0	1	0	0	12509	595	21	4	75	4	PRKCD	3	53212511	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	351676	53212511	144809919	273	133773											
CACNA1D	776	broad.mit.edu	37	chr3	53783318	53783318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtataaagccatcgactCgaatggagagaacatcggcc	11	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:53783318C>T	uc003dgv.3	+	27	3501	c.3338C>T	c.(3337-3339)TCG>TTG	p.S1113L	CACNA1D_uc003dgu.3_Missense_Mutation_p.S1133L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1113L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S780L|CACNA1D_uc003dgx.1_Missense_Mutation_p.S261L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1113	Extracellular (Potential).|Dihydropyridine binding (By similarity).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	GCCATCGACTCGAATGGAGAG	0.522													T	53783318	C	T	53783318	3	4	270	1	0	0	0	0	1	0	0	0	2541	893	31	1	3616	1	CACNA1D	3	53783318	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	570807	53783318	144239112	274	133774											
ERC2	26059	broad.mit.edu	37	chr3	56468581	56468581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagttctttcagctggGcctgaagatctaacattgtg	10	9	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:56468581G>A	uc003dhr.1	-	2	711	c.455C>T	c.(454-456)GCC>GTC	p.A152V		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	152	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTTCAGCTGGGCCTGAAGATC	0.493													A	56468581	G	A	56468581	3	1	270	1	0	0	0	0	1	0	0	0	5211	1203	42	2	2472	2	ERC2	3	56468581	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2685263	56468581	141553849	275	133775											
PDE12	201626	broad.mit.edu	37	chr3	57545470	57545470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatgaagactgggcttcCaatggggaggaggaaagatg	16	5	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:57545470C>T	uc003diw.3	+	3	1695	c.1569C>T	c.(1567-1569)TCC>TCT	p.S523S	PDE12_uc003div.2_3'UTR	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	523							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACTGGGCTTCCAATGGGGAGG	0.408													T	57545470	C	T	57545470	2	4	270	1	0	0	0	0	0	0	0	1	11632	581	21	4		4	PDE12	3	57545470	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1076889	57545470	140476960	276	133776											
FLNB	2317	broad.mit.edu	37	chr3	58089736	58089736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctggatggggtctacGcattcgagtattaccccagc	10	11	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:58089736G>A	uc003djj.2	+	10	1699	c.1534G>A	c.(1534-1536)GCA>ACA	p.A512T	FLNB_uc010hne.2_Missense_Mutation_p.A512T|FLNB_uc003djk.2_Missense_Mutation_p.A512T|FLNB_uc010hnf.2_Missense_Mutation_p.A512T|FLNB_uc003djl.2_Missense_Mutation_p.A343T|FLNB_uc003djm.2_Missense_Mutation_p.A343T	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	512	Filamin 3.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGGGTCTACGCATTCGAGTA	0.537													A	58089736	G	A	58089736	3	1	270	1	0	0	0	0	1	0	0	0	5934	1087	38	1	1572	1	FLNB	3	58089736	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	544266	58089736	139932694	277	133777											
FAM107A	11170	broad.mit.edu	37	chr3	58552332	58552332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctacagctctctctcttCgctggtcagtgtggcaattc	9	14	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:58552332C>T	uc003dkm.2	-	5	977	c.418G>A	c.(418-420)GAA>AAA	p.E140K	FAM107A_uc003dko.2_Missense_Mutation_p.E171K|FAM107A_uc003dkn.2_Missense_Mutation_p.E140K|FAM107A_uc010hnm.2_Missense_Mutation_p.E168K|FAM107A_uc003dkp.1_3'UTR	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	140					regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCTCTCTCTTCGCTGGTCAGT	0.602													T	58552332	C	T	58552332	3	4	270	1	0	0	0	0	1	0	0	0	5389	893	31	1	20	1	FAM107A	3	58552332	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	462596	58552332	139470098	278	133778											
C3orf67	200844	broad.mit.edu	37	chr3	58792166	58792166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttctttctgatagtggCgaccctggttgacaggctgg	12	9	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:58792166C>T	uc003dkt.1	-	14	1848	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.R421H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	485											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGATAGTGGCGACCCTGGTT	0.358													T	58792166	C	T	58792166	3	4	270	1	0	0	0	0	1	0	0	0	2241	768	27	1	264	1	C3orf67	3	58792166	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	239834	58792166	139230264	279	133779											
PTPRG	5793	broad.mit.edu	37	chr3	61975386	61975386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacattttagaccagtatgCgcgtgttggggaagaatacc	12	7	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:61975386C>T	uc003dlb.2	+	3	997	c.278C>T	c.(277-279)GCG>GTG	p.A93V	PTPRG_uc003dlc.2_Missense_Mutation_p.A93V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	93	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GACCAGTATGCGCGTGTTGGG	0.488													T	61975386	C	T	61975386	3	4	270	1	0	0	0	0	1	0	0	0	12802	768	27	1	288	1	PTPRG	3	61975386	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3183220	61975386	136047044	280	133780											
ADAMTS9	56999	broad.mit.edu	37	chr3	64580089	64580089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccagtcttgttcttatgcCtccaccacacagcttagtgc	6	15	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:64580089C>A	uc003dmg.2	-	28	4233	c.4201G>T	c.(4201-4203)GGC>TGC	p.G1401C	ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1373C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G1230C|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G312C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1401	TSP type-1 10.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		GTTCTTATGCCTCCACCACAC	0.458													A	64580089	C	A	64580089	3	1	270	1	0	0	0	0	1	0	0	0	273	681	24	5	1654	5	ADAMTS9	3	64580089	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2604703	64580089	133442341	281	133781											
MAGI1	9223	broad.mit.edu	37	chr3	65425586	65425591	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													gctgctgctgctgctgctgcTgctgttgctgctgctgttgc					rs139785185		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:65425585_65425590CTGCTGT>C	uc003dmn.3	-	8	1760_1765	c.1234_1239ACAGCAG>G	c.(1234-1239)cagcag>G	p.QQ420del	MAGI1_uc003dmm.3_In_Frame_Del_p.QQ420del|MAGI1_uc003dmo.3_In_Frame_Del_p.QQ420del|MAGI1_uc003dmp.3_In_Frame_Del_p.QQ420del|MAGI1_uc010hny.2_In_Frame_Del_p.QQ305del|MAGI1_uc021xac.1_In_Frame_Del_p.QQ421del	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	420	Poly-Gln.				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)		gctgctgctgctgctgttgctgctgc	0.544											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65425591	TGCTGT	-	65425586	7	5	270	1	0	1	0	1	0	0	0	0	9190	1580	55	0	3444	0	MAGI1	3	65425586	In_Frame_Del	DEL	TGCTGT	TCGA-HU-A4GN-01A-11D-A25D-08	845497	65425586	132596844	282	133782											
LRIG1	26018	broad.mit.edu	37	chr3	66467568	66467568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacagctcctttataggcGgtccgtgtggaaagcaggtg	13	9	0	0	rs146856805	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:66467568G>A	uc003dmx.2	-	4	502	c.488C>T	c.(487-489)CCG>CTG	p.P163L	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.P163L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	163	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTTATAGGCGGTCCGTGTGG	0.557													A	66467568	G	A	66467568	3	1	270	1	0	0	0	0	1	0	0	0	8944	1116	39	1	2857	1	LRIG1	3	66467568	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1041982	66467568	131554862	283	133783											
FOXP1	27086	broad.mit.edu	37	chr3	71247446	71247446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccctcccgaagaccgccGcactctagtaagtggttgct	10	16	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:71247446G>A	uc003dol.2	-	2	410	c.87C>T	c.(85-87)TGC>TGT	p.C29C	FOXP1_uc003dom.2_Silent_p.C29C|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.C29C|FOXP1_uc003dop.2_Silent_p.C29C|FOXP1_uc003doq.1_Silent_p.C29C|FOXP1_uc003dos.2_Silent_p.C29C	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	29					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGACCGCCGCACTCTAGTA	0.602			T	PAX5	ALL								A	71247446	G	A	71247446	2	1	270	1	0	0	0	0	0	0	0	1	6026	1079	38	1		1	FOXP1	3	71247446	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4779878	71247446	126774984	284	133784											
VGLL3	389136	broad.mit.edu	37	chr3	87027842	87027842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttaaggtactccatctcGgcaggctggtctttctcctc	10	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:87027842G>A	uc003dqn.2	-	2	601	c.237C>T	c.(235-237)GCC>GCT	p.A79A		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	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)		ACTCCATCTCGGCAGGCTGGt	0.408													A	87027842	G	A	87027842	2	1	270	1	0	0	0	0	0	0	0	1	17157	1103	39	1		1	VGLL3	3	87027842	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	15780396	87027842	110994588	285	133785											
COL8A1	1295	broad.mit.edu	37	chr3	99514689	99514689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacagaactacaacccGcagacaggcatcttcacctg	9	14	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:99514689G>A	uc003dtg.1	+	5	2189	c.1944G>A	c.(1942-1944)CCG>CCA	p.P648P	COL8A1_uc003dth.1_Silent_p.P648P|COL8A1_uc003dti.1_Silent_p.P649P	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	648	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						ACTACAACCCGCAGACAGGCA	0.537													A	99514689	G	A	99514689	2	1	270	1	0	0	0	0	0	0	0	1	3705	1074	38	1		1	COL8A1	3	99514689	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	12486847	99514689	98507741	286	133786											
FAM55C	91775	broad.mit.edu	37	chr3	101504476	101504476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaactacggcttttctgCtgtctgcttgcagtgttgat	9	9	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:101504476C>T	uc003dvn.2	+	4	673	c.36C>T	c.(34-36)TGC>TGT	p.C12C	FAM55C_uc010hpn.2_Silent_p.C12C	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	12						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GGCTTTTCTGCTGTCTGCTTG	0.473													T	101504476	C	T	101504476	2	4	270	1	0	0	0	0	0	0	0	1	5586	805	28	2		2	FAM55C	3	101504476	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1989787	101504476	96517954	287	133787											
KIAA1524	57650	broad.mit.edu	37	chr3	108295157	108295157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttccattaagaagaccTaatacttggtgaagacatga	7	8	0	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:108295157T>C	uc003dxb.3	-	8	1124	c.855A>G	c.(853-855)TTA>TTG	p.L285L	KIAA1524_uc003dxc.1_Silent_p.L126L|KIAA1524_uc010hpw.1_Silent_p.L126L	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	285						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TAAGAAGACCTAATACTTGGT	0.279													C	108295157	T	C	108295157	2	2	270	1	0	0	0	0	0	0	0	1	8239	1519	53	3		3	KIAA1524	3	108295157	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	6790681	108295157	89727273	288	133788											
CCDC80	151887	broad.mit.edu	37	chr3	112357212	112357212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgagaggcagtaggcCggctgaggtcatacttctcc	13	12	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:112357212C>T	uc003dzf.2	-	2	1759	c.1541G>A	c.(1540-1542)CGG>CAG	p.R514Q	CCDC80_uc011bhv.1_Missense_Mutation_p.R514Q|CCDC80_uc003dzg.2_Missense_Mutation_p.R514Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R514Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	514	Lys-rich.									ovary(2)	2						GGCAGTAGGCCGGCTGAGGTC	0.488													T	112357212	C	T	112357212	3	4	270	1	0	0	0	0	1	0	0	0	2854	652	23	1	1339	1	CCDC80	3	112357212	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4062055	112357212	85665218	289	133789											
KIAA2018	205717	broad.mit.edu	37	chr3	113376015	113376015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggtggacattatggggcTgagagtggacagagctctct	16	6	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:113376015T>C	uc003eam.2	-	7	4925	c.4514A>G	c.(4513-4515)CAG>CGG	p.Q1505R	KIAA2018_uc003eal.2_Missense_Mutation_p.Q1449R	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1505	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						ATTATGGGGCTGAGAGTGGAC	0.433													C	113376015	T	C	113376015	3	2	270	1	0	0	0	0	1	0	0	0	8268	1580	55	3	2227	3	KIAA2018	3	113376015	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1018803	113376015	84646415	290	133790											
KIAA2018	205717	broad.mit.edu	37	chr3	113376613	113376613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgtgaatttggtatggTactagtcatagtatttagct	9	4	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:113376613T>C	uc003eam.2	-	7	4327	c.3916A>G	c.(3916-3918)ACC>GCC	p.T1306A	KIAA2018_uc003eal.2_Missense_Mutation_p.T1250A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1306					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TTTGGTATGGTACTAGTCATA	0.438													C	113376613	T	C	113376613	3	2	270	1	0	0	0	0	1	0	0	0	8268	1638	57	3	2825	3	KIAA2018	3	113376613	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	598	113376613	84645817	291	133791											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					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)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	270	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	681390	114058003	83964427	292	133792											
GTF2E1	2960	broad.mit.edu	37	chr3	120489634	120489634	+	Frame_Shift_Del	DEL	A	A	-													aggatgaatcagcaatgcccAaaaaagatgcacgcacactt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:120489633_120489633CA>C	uc003edz.4	+	2	621	c.507_507CA>C	c.(505-507)cccfs	p.P169fs		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	169					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)		CAGCAATGCCCAAAAAAGATG	0.418													-	120489634	A	-	120489634	7	5	270	1	0	1	0	1	0	0	0	0	6856	131	5	0	514	0	GTF2E1	3	120489634	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	6431631	120489634	77532796	293	133793											
EAF2	55840	broad.mit.edu	37	chr3	121573659	121573659	+	Frame_Shift_Del	DEL	A	A	-													ctcagcagcaacatcactgtAaaaaaaacaaggtatgtggt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:121573658_121573658TA>T	uc003een.3	+	2	425	c.326_326TA>T	c.(325-327)gtafs	p.V109fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	109					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)		AACATCACTGTAAAAAAAACA	0.249													-	121573659	A	-	121573659	7	5	270	1	0	1	0	1	0	0	0	0	4876	349	13	0	337	0	EAF2	3	121573659	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	1084025	121573659	76448771	294	133794											
SEMA5B	54437	broad.mit.edu	37	chr3	122647874	122647874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgctttggcaggagcggCgcgtgtcctcactggaggcc	15	12	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:122647874C>T	uc003efz.1	-	6	810	c.506G>A	c.(505-507)CGC>CAC	p.R169H	SEMA5B_uc011bju.1_Missense_Mutation_p.R111H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R169H|SEMA5B_uc010hro.1_Missense_Mutation_p.R111H|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	169	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGCGGCGCGTGTCCTC	0.617													T	122647874	C	T	122647874	3	4	270	1	0	0	0	0	1	0	0	0	14038	768	27	1	3021	1	SEMA5B	3	122647874	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1074215	122647874	75374556	295	133795											
KALRN	8997	broad.mit.edu	37	chr3	124377290	124377290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcaggagcggaagctgCacatctacgtgtggtattgt	12	8	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:124377290C>T	uc003ehg.2	+	42	6173	c.6046C>T	c.(6046-6048)CAC>TAC	p.H2016Y	KALRN_uc003ehi.2_Missense_Mutation_p.H357Y|KALRN_uc003ehk.2_Missense_Mutation_p.H319Y|KALRN_uc011bjz.1_Missense_Mutation_p.H108Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2015	DH 2.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCGGAAGCTGCACATCTACGT	0.512													T	124377290	C	T	124377290	3	4	270	1	0	0	0	0	1	0	0	0	7975	710	25	2	6368	2	KALRN	3	124377290	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1729416	124377290	73645140	296	133796											
KALRN	8997	broad.mit.edu	37	chr3	124438200	124438200	+	Frame_Shift_Del	DEL	C	C	-													aatggcagctactctaagatCcccctggacacctcccgcct							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:124438199_124438199TC>T	uc003ehg.3	+	59	8970	c.8843_8843TC>T	c.(8842-8844)atcfs	p.I2948fs	KALRN_uc003ehk.3_Frame_Shift_Del_p.I1251fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2947					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|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase 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						TACTCTAAGATCCCCCTGGAC	0.532													-	124438200	C	-	124438200	7	5	270	1	0	1	0	1	0	0	0	0	7975	845	30	0	9238	0	KALRN	3	124438200	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	60910	124438200	73584230	297	133797											
KLF15	28999	broad.mit.edu	37	chr3	126071347	126071347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttcaatctcctccaggGtaggctggaagggccgtggg	14	11	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:126071347G>A	uc011bkk.1	-	2	601	c.419C>T	c.(418-420)ACC>ATC	p.T140I		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	140						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CTCCTCCAGGGTAGGCTGGAA	0.602													A	126071347	G	A	126071347	3	1	270	1	0	0	0	0	1	0	0	0	8343	1261	44	4	839	4	KLF15	3	126071347	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1633147	126071347	71951083	298	133798											
MCM2	4171	broad.mit.edu	37	chr3	127323460	127323460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccctcagggactaccgCgccatcccagagctggacgc	11	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:127323460C>T	uc003ejp.2	+	3	303	c.246C>T	c.(244-246)CGC>CGT	p.R82R	MCM2_uc011bkm.1_5'UTR|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_5'UTR	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	82	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(1)	4						GGGACTACCGCGCCATCCCAG	0.592													T	127323460	C	T	127323460	2	4	270	1	0	0	0	0	0	0	0	1	9386	755	27	1		1	MCM2	3	127323460	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1252113	127323460	70698970	299	133799											
COL6A6	131873	broad.mit.edu	37	chr3	130289784	130289784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgaaaaaagctgatgtgGgcaagaatcaggtccggttt	13	5	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:130289784G>A	uc010htl.2	+	6	2555	c.2524G>A	c.(2524-2526)GGC>AGC	p.G842S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	842	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGCTGATGTGGGCAAGAATCA	0.413													A	130289784	G	A	130289784	3	1	270	1	0	0	0	0	1	0	0	0	3703	1232	43	4	2546	4	COL6A6	3	130289784	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2966324	130289784	67732646	300	133800											
DBR1	51163	broad.mit.edu	37	chr3	137886142	137886142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatatatctataggctgCttcagctttcaaaagagaaa	7	6	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:137886142C>T	uc003erv.2	-	5	631	c.495G>A	c.(493-495)AAG>AAA	p.K165K	DBR1_uc003eru.2_Silent_p.K114K	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	165						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CTATAGGCTGCTTCAGCTTTC	0.343													T	137886142	C	T	137886142	2	4	270	1	0	0	0	0	0	0	0	1	4257	796	28	2		2	DBR1	3	137886142	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7596358	137886142	60136288	301	133801											
ATP1B3	483	broad.mit.edu	37	chr3	141626091	141626091	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcgtatgcagggtacatTgaagaccttaagaagtttct	9	7	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:141626091T>C	uc003eug.1	+	3	495	c.321T>C	c.(319-321)ATT>ATC	p.I107I	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Silent_p.I93I	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	107	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						CAGGGTACATTGAAGACCTTA	0.333													C	141626091	T	C	141626091	2	2	270	1	0	0	0	0	0	0	0	1	1134	1800	63	3		3	ATP1B3	3	141626091	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3739949	141626091	56396339	302	133802											
PAQR9	344838	broad.mit.edu	37	chr3	142681357	142681357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagcggcggtagaagtgcacGaagagtgtggggttctcccc	16	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:142681357G>T	uc003evg.2	-	1	822	c.822C>A	c.(820-822)TTC>TTA	p.F274L	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	274	Extracellular (Potential).					integral to membrane	receptor activity				0						AGAAGTGCACGAAGAGTGTGG	0.607													T	142681357	G	T	142681357	3	4	270	1	0	0	0	0	1	0	0	0	11442	1049	37	5	315	5	PAQR9	3	142681357	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1055266	142681357	55341073	303	133803											
SR140	23350	broad.mit.edu	37	chr3	142735133	142735133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgagatttatgaggAgtttcttgctgcttttgaag	12	5	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:142735133A>G	uc003evh.1	+	5	455	c.356A>G	c.(355-357)GAG>GGG	p.E119G	SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.E119G|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E119G	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	119	Potential.				RNA processing	nucleus	nucleotide binding|RNA binding				0						ATTTATGAGGAGTTTCTTGCT	0.328													G	142735133	A	G	142735133	3	3	270	1	0	0	0	0	1	0	0	0	15130	304	11	3	374	3	SR140	3	142735133	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	53776	142735133	55287297	304	133804											
CHST2	9435	broad.mit.edu	37	chr3	142840509	142840509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgtgtgcaagaagtgccCgccacagcgcctggcgcgtt	14	15	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:142840509C>T	uc003evm.2	+	2	1740	c.851C>T	c.(850-852)CCG>CTG	p.P284L		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	284	Lumenal (Potential).				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			ovary(3)	3						AAGAAGTGCCCGCCACAGCGC	0.652													T	142840509	C	T	142840509	3	4	270	1	0	0	0	0	1	0	0	0	3404	652	23	1	853	1	CHST2	3	142840509	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	105376	142840509	55181921	305	133805											
P2RY13	53829	broad.mit.edu	37	chr3	151046205	151046205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtccagaaaataaactgGcatatgttatttaccatttg	6	7	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:151046205G>A	uc003eyv.2	-	2	660	c.639C>T	c.(637-639)TGC>TGT	p.C213C	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	213	Helical; Name=5; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAATAAACTGGCATATGTTAT	0.368													A	151046205	G	A	151046205	2	1	270	1	0	0	0	0	0	0	0	1	11350	1195	42	2		2	P2RY13	3	151046205	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	8205696	151046205	46976225	306	133806											
IGSF10	285313	broad.mit.edu	37	chr3	151164416	151164416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgttgttttctctacaCtgggtttgttctcaagtagt	11	6	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:151164416C>A	uc011bod.1	-	4	3353	c.3353G>T	c.(3352-3354)AGT>ATT	p.S1118I		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1118					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTCTACACTGGGTTTGTT	0.438													A	151164416	C	A	151164416	3	1	270	1	0	0	0	0	1	0	0	0	7597	565	20	5	4578	5	IGSF10	3	151164416	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	118211	151164416	46858014	307	133807											
DHX36	170506	broad.mit.edu	37	chr3	154002773	154002773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgtttatccaaagCgttctgtaaaggaagagtgt	9	6	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:154002773C>T	uc003ezy.3	-	18	2116	c.2035G>A	c.(2035-2037)GCT>ACT	p.A679T	DHX36_uc010hvq.2_Missense_Mutation_p.A665T|DHX36_uc003ezz.3_Missense_Mutation_p.A679T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	679						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATCCAAAGCGTTCTGTAAA	0.368													T	154002773	C	T	154002773	3	4	270	1	0	0	0	0	1	0	0	0	4509	768	27	1	1023	1	DHX36	3	154002773	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2838357	154002773	44019657	308	133808											
DHX36	170506	broad.mit.edu	37	chr3	154010350	154010350	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaccttaccttccagctcGaccttttctctgtttggcat	5	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:154010350G>A	uc003ezy.3	-	15	1885	c.1804C>T	c.(1804-1806)CGA>TGA	p.R602*	DHX36_uc010hvq.2_Nonsense_Mutation_p.R588*|DHX36_uc003ezz.3_Nonsense_Mutation_p.R602*	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	602	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTCCAGCTCGACCTTTTCTC	0.358													A	154010350	G	A	154010350	4	1	270	1	0	0	0	0	0	1	0	0	4509	1066	37	1	1266	1	DHX36	3	154010350	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7577	154010350	44012080	309	133809											
CCNL1	57018	broad.mit.edu	37	chr3	156867109	156867109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgtgatctagaacgtgatCgtgttcttgacctcgatcga	10	8	2	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:156867109C>T	uc003fbf.2	-	10	1798	c.1199G>A	c.(1198-1200)CGA>CAA	p.R400Q	CCNL1_uc003fbd.1_Missense_Mutation_p.R400Q|CCNL1_uc003fbe.2_Missense_Mutation_p.R194Q|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.R245Q	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	400	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGAACGTGATCGTGTTCTTGA	0.338													T	156867109	C	T	156867109	3	4	270	1	0	0	0	0	1	0	0	0	2931	884	31	1	389	1	CCNL1	3	156867109	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2856759	156867109	41155321	310	133810											
SI	6476	broad.mit.edu	37	chr3	164739135	164739135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggaatgtttaacggtaCtggtacttcatatctcttct	9	7	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:164739135C>T	uc003fei.2	-	27	3198	c.3136G>A	c.(3136-3138)GTA>ATA	p.V1046I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1046	Sucrase.|Lumenal.				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTAACGGTACTGGTACTTCA	0.358										HNSCC(35;0.089)			T	164739135	C	T	164739135	3	4	270	1	0	0	0	0	1	0	0	0	14297	565	20	4	2435	4	SI	3	164739135	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7872026	164739135	33283295	311	133811											
LRRIQ4	344657	broad.mit.edu	37	chr3	169548401	169548401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttaagcaacttccagatgCcatttgccaagcacaaggtg	9	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:169548401C>T	uc003fgb.2	+	3	1316	c.1316C>T	c.(1315-1317)GCC>GTC	p.A439V		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	439	LRR 18.										0						CTTCCAGATGCCATTTGCCAA	0.463													T	169548401	C	T	169548401	3	4	270	1	0	0	0	0	1	0	0	0	9031	739	26	2	1326	2	LRRIQ4	3	169548401	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4809266	169548401	28474029	312	133812											
HTR3E	285242	broad.mit.edu	37	chr3	183824060	183824060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctccactgcaacagccCggggagatgctgtcccactg	12	15	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:183824060C>T	uc010hxq.2	+	8	1536	c.1070C>T	c.(1069-1071)CCG>CTG	p.P357L	HTR3E_uc003fml.3_Missense_Mutation_p.P342L|HTR3E_uc003fmm.2_Missense_Mutation_p.P372L|HTR3E_uc010hxr.2_Missense_Mutation_p.P383L|HTR3E_uc003fmn.2_Missense_Mutation_p.P357L	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCAACAGCCCGGGGAGATGC	0.617													T	183824060	C	T	183824060	3	4	270	1	0	0	0	0	1	0	0	0	7448	652	23	1	1141	1	HTR3E	3	183824060	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	14275659	183824060	14198370	313	133813											
ABCF3	55324	broad.mit.edu	37	chr3	183908909	183908909	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacccctacctcctgcAggttccctgatgggtttgag	9	15	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:183908909A>G	uc003fmz.2	+	16	1570	c.1437_splice	c.e16-2	p.K479_splice	ABCF3_uc003fna.2_Splice_Site_p.K473_splice|ABCF3_uc003fnb.2_Splice_Site_p.K160_splice	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),								ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTCCTGCAGGTTCCCTGA	0.547													G	183908909	A	G	183908909	5	3	270	1	0	0	0	0	0	0	1	0	67	202	7	3	1497	3	ABCF3	3	183908909	Splice_Site	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	84849	183908909	14113521	314	133814											
CLCN2	1181	broad.mit.edu	37	chr3	184073564	184073564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagccgggaagagcaggCgtctagagtcgtaggtttca	15	9	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:184073564C>T	uc003foi.2	-	11	1212	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H	CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Missense_Mutation_p.R363H|CLCN2_uc011brl.1_Missense_Mutation_p.R363H|CLCN2_uc011brm.1_Missense_Mutation_p.R319H|CLCN2_uc011brn.1_Missense_Mutation_p.R363H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	363	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	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)	GAAGAGCAGGCGTCTAGAGTC	0.587													T	184073564	C	T	184073564	3	4	270	1	0	0	0	0	1	0	0	0	3463	768	27	1	1664	1	CLCN2	3	184073564	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	164655	184073564	13948866	315	133815											
VPS8	23355	broad.mit.edu	37	chr3	184550540	184550540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttaaacattgatactattGattctcactcctatgatact	4	8	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:184550540G>A	uc003fpb.1	+	4	457	c.286G>A	c.(286-288)GAT>AAT	p.D96N	VPS8_uc010hyd.1_Missense_Mutation_p.D96N|VPS8_uc003fpc.1_Missense_Mutation_p.D96N	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	96							zinc ion binding			ovary(1)	1	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)			TGATACTATTGATTCTCACTC	0.343													A	184550540	G	A	184550540	3	1	270	1	0	0	0	0	1	0	0	0	17215	1290	45	4	296	4	VPS8	3	184550540	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	476976	184550540	13471890	316	133816											
MAP3K13	9175	broad.mit.edu	37	chr3	185183551	185183551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggcatgcgctggatattCgtgaacactatgagcggaag	13	8	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:185183551C>T	uc010hyf.2	+	10	1671	c.1405C>T	c.(1405-1407)CGT>TGT	p.R469C	MAP3K13_uc011brt.1_Missense_Mutation_p.R262C|MAP3K13_uc011bru.1_Missense_Mutation_p.R325C|MAP3K13_uc003fpi.2_Missense_Mutation_p.R469C|MAP3K13_uc010hyg.2_Missense_Mutation_p.R159C	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	469					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			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCTGGATATTCGTGAACACTA	0.463													T	185183551	C	T	185183551	3	4	270	1	0	0	0	0	1	0	0	0	9247	884	31	1	1435	1	MAP3K13	3	185183551	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	633011	185183551	12838879	317	133817											
ADIPOQ	9370	broad.mit.edu	37	chr3	186571971	186571971	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtcttctcattccttAggtcttattggtcctaaggg	10	9	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:186571971A>G	uc003fra.2	+	3	299	c.215_splice	c.e3-2	p.G72_splice	ADIPOQ_uc010hyy.2_Splice_Site_p.G72_splice	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor						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			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CTCATTCCTTAGGTCTTATTG	0.522													G	186571971	A	G	186571971	5	3	270	1	0	0	0	0	0	0	1	0	317	434	15	3	219	3	ADIPOQ	3	186571971	Splice_Site	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1388420	186571971	11450459	318	133818											
RTP1	132112	broad.mit.edu	37	chr3	186917577	186917577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctacggcgagcgtggcGgccagtaccgcatccacgtg	15	13	0	0	rs141818025	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:186917577G>A	uc003frg.2	+	2	541	c.511G>A	c.(511-513)GGC>AGC	p.G171S		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	171	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGAGCGTGGCGGCCAGTACCG	0.687													A	186917577	G	A	186917577	3	1	270	1	0	0	0	0	1	0	0	0	13733	1116	39	1	517	1	RTP1	3	186917577	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	345606	186917577	11104853	319	133819											
TFRC	7037	broad.mit.edu	37	chr3	195789785	195789785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactccaactggcaaagatAatgcttctgctgggctgaaa	10	10	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:195789785A>G	uc003fvz.3	-	12	1627	c.1344T>C	c.(1342-1344)ATT>ATC	p.I448I	TFRC_uc003fwa.3_Silent_p.I448I|TFRC_uc010hzy.2_Silent_p.I367I|TFRC_uc011btr.1_Silent_p.I166I	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	448	Extracellular (Potential).				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			ovary(3)	3	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)		TGGCAAAGATAATGCTTCTGC	0.448			T	BCL6	NHL								G	195789785	A	G	195789785	2	3	270	1	0	0	0	0	0	0	0	1	15809	358	13	3		3	TFRC	3	195789785	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	8872208	195789785	2232645	320	133820											
TM4SF19	116211	broad.mit.edu	37	chr3	196054330	196054330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcccctcaacaggtaGgtgacatcccagttaggaag	13	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:196054330G>A	uc003fwl.1	-	2	257	c.132C>T	c.(130-132)ACC>ACT	p.T44T	TM4SF19_uc003fwj.2_RNA|TM4SF19_uc010iad.1_Silent_p.T44T|TM4SF19_uc011btv.1_Silent_p.T44T	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	44	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCAACAGGTAGGTGACATCCC	0.612													A	196054330	G	A	196054330	2	1	270	1	0	0	0	0	0	0	0	1	15965	987	35	4		4	TM4SF19	3	196054330	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	264545	196054330	1968100	321	133821											
BDH1	622	broad.mit.edu	37	chr3	197241135	197241135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctccctttcccactcacCtttggcccttcggatgaggg	10	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:197241135C>A	uc003fxr.2	-	7	964	c.562G>T	c.(562-564)GGC>TGC	p.G188C	BDH1_uc003fxs.2_Missense_Mutation_p.G188C|BDH1_uc003fxt.2_Missense_Mutation_p.G101C|BDH1_uc003fxu.2_Missense_Mutation_p.G188C	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	188					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TCCCACTCACCTTTGGCCCTT	0.562													A	197241135	C	A	197241135	3	1	270	1	0	0	0	0	1	0	0	0	1390	695	24	5	477	5	BDH1	3	197241135	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1186805	197241135	781295	322	133822											
ZNF141	7700	broad.mit.edu	37	chr4	367382	367382	+	Frame_Shift_Del	DEL	A	A	-													ccagggtcctgaatgaacatAaaaaaattcatactggagag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:367381_367381TA>T	uc003gaa.2	+	3	1332	c.1155_1155TA>T	c.(1153-1155)catfs	p.H385fs	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	385					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						TGAATGAACATAAAAAAATTC	0.413													-	367382	A	-	367382	7	5	270	1	0	1	0	1	0	0	0	0	17727	363	13	0	1170	0	ZNF141	4	367382	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08		367382	190786894	323	133823											
ZNF721	170960	broad.mit.edu	37	chr4	438000	438000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactaaaaactttgacacGtgcattacattgaaatattt	4	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:438000G>A	uc003gag.2	-	3	947	c.256C>T	c.(256-258)CGT>TGT	p.R86C	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.R118C|ZNF721_uc010ibe.2_Missense_Mutation_p.R74C	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	86						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						ACTTTGACACGTGCATTACAT	0.313													A	438000	G	A	438000	3	1	270	1	0	0	0	0	1	0	0	0	18119	1145	40	1	2519	1	ZNF721	4	438000	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	70618	438000	190716276	324	133824											
TACC3	10460	broad.mit.edu	37	chr4	1730308	1730308	+	Frame_Shift_Del	DEL	C	C	-													aggagcggagcaggagaggaCccccccatgccagcttctcg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:1730307_1730307AC>A	uc003gdo.3	+	3	1333	c.1178_1178AC>A	c.(1177-1179)gacfs	p.D393fs	TACC3_uc010ibz.3_Frame_Shift_Del_p.D393fs|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	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)			GCAGGAGAGGACCCCCCCATG	0.612													-	1730308	C	-	1730308	7	5	270	1	0	1	0	1	0	0	0	0	15500	506	18	0	1189	0	TACC3	4	1730308	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1292308	1730308	189423968	325	133825											
DOK7	285489	broad.mit.edu	37	chr4	3495067	3495067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgggcacgagacggCggggcctggtgatggaggcc	21	10	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:3495067C>T	uc003ghd.2	+	7	1424	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	DOK7_uc003ghe.2_Missense_Mutation_p.R314W|DOK7_uc003ghf.2_Silent_p.G193G|DOK7_uc003ghg.1_Missense_Mutation_p.R142W	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	452					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CACGAGACGGCGGGGCCTGGT	0.771													T	3495067	C	T	3495067	3	4	270	1	0	0	0	0	1	0	0	0	4702	759	27	1	1380	1	DOK7	4	3495067	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1764759	3495067	187659209	326	133826											
LRPAP1	4043	broad.mit.edu	37	chr4	3526677	3526677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccttctccccatcttcGtccaagccgtcaagctttag	6	16	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:3526677G>A	uc003ghi.2	-	2	391	c.306C>T	c.(304-306)GAC>GAT	p.D102D		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	102					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCCCATCTTCGTCCAAGCCGT	0.433													A	3526677	G	A	3526677	2	1	270	1	0	0	0	0	0	0	0	1	8964	1136	40	1		1	LRPAP1	4	3526677	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	31610	3526677	187627599	327	133827											
ZBTB49	166793	broad.mit.edu	37	chr4	4322409	4322409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctccgcaggcatgtccGcactcacactggggagaagc	12	14	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:4322409G>A	uc003ghu.2	+	8	1839	c.1664G>A	c.(1663-1665)CGC>CAC	p.R555H	uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.R38H|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.R133H	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	555	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGGCATGTCCGCACTCACACT	0.428													A	4322409	G	A	4322409	3	1	270	1	0	0	0	0	1	0	0	0	17547	1087	38	1	1690	1	ZBTB49	4	4322409	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	795732	4322409	186831867	328	133828											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107625	6107625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagctccgaaatgtaggCcgtgtgccgtcgctgctcct	12	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:6107625C>T	uc003giu.3	-	3	475	c.199G>A	c.(199-201)GCC>ACC	p.A67T	JAKMIP1_uc010idb.1_Missense_Mutation_p.A67T|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A67T|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.A67T|JAKMIP1_uc010ide.2_Missense_Mutation_p.A67T	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	67	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GAAATGTAGGCCGTGTGCCGT	0.662													T	6107625	C	T	6107625	3	4	270	1	0	0	0	0	1	0	0	0	7940	739	26	2	2447	2	JAKMIP1	4	6107625	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1785216	6107625	185046651	329	133829											
WFS1	7466	broad.mit.edu	37	chr4	6296830	6296830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagtacgccaagggcgtcAtccccagcagcctgttcctg	11	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:6296830A>G	uc003giy.2	+	7	941	c.775A>G	c.(775-777)ATC>GTC	p.I259V	WFS1_uc003gix.2_Missense_Mutation_p.I259V|WFS1_uc003giz.2_Missense_Mutation_p.I77V	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	259					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)	2				Colorectal(103;0.0512)		CAAGGGCGTCATCCCCAGCAG	0.567													G	6296830	A	G	6296830	3	3	270	1	0	0	0	0	1	0	0	0	17357	217	8	3	797	3	WFS1	4	6296830	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	189205	6296830	184857446	330	133830											
PPP2R2C	5522	broad.mit.edu	37	chr4	6380228	6380228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctcttgagatagtcAaactccggctcgtggctctg	11	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:6380228A>G	uc003gjc.2	-	3	610	c.240T>C	c.(238-240)TTT>TTC	p.F80F	PPP2R2C_uc003gjb.2_Silent_p.F63F|PPP2R2C_uc011bwd.1_Silent_p.F73F|PPP2R2C_uc011bwe.1_Silent_p.F73F|PPP2R2C_uc003gja.2_Silent_p.F80F|PPP2R2C_uc003gjd.1_Silent_p.F168F	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	80					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TGAGATAGTCAAACTCCGGCT	0.567													G	6380228	A	G	6380228	2	3	270	1	0	0	0	0	0	0	0	1	12386	127	5	3		3	PPP2R2C	4	6380228	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	83398	6380228	184774048	331	133831											
TADA2B	93624	broad.mit.edu	37	chr4	7055912	7055912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacaccatccccaaccgcGtgacagaccacacctgtccc	6	21	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:7055912G>A	uc003gjw.3	+	2	545	c.394G>A	c.(394-396)GTG>ATG	p.V132M	TADA2B_uc010idi.2_Missense_Mutation_p.V57M	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						CCCCAACCGCGTGACAGACCA	0.652													A	7055912	G	A	7055912	3	1	270	1	0	0	0	0	1	0	0	0	15508	1145	40	1	400	1	TADA2B	4	7055912	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	675684	7055912	184098364	332	133832											
SH3TC1	54436	broad.mit.edu	37	chr4	8242564	8242566	+	In_Frame_Del	DEL	TCT	TCT	-													cctggaccgtgagaagtcgcTcttcttctaccagaaggcca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:8242563_8242565CTCT>C	uc003gkv.4	+	17	3993_3995	c.3892_3894CTCT>C	c.(3892-3894)ctc>C	p.L1298del	SH3TC1_uc003gkw.4_In_Frame_Del_p.L1222del|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1298							binding	p.L1298L(2)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGAGAAGTCGCTCTTCTTCTACC	0.631													-	8242566	TCT	-	8242564	7	5	270	1	0	1	0	1	0	0	0	0	14261	1551	54	0	3959	0	SH3TC1	4	8242564	In_Frame_Del	DEL	TCT	TCGA-HU-A4GN-01A-11D-A25D-08	1186652	8242564	182911712	333	133833											
ACOX3	8310	broad.mit.edu	37	chr4	8390919	8390919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagagtccaagcagtcGgcaacactggagacctcaaa	10	13	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:8390919G>A	uc010idk.2	-	13	1663	c.1518C>T	c.(1516-1518)GCC>GCT	p.A506A	ACOX3_uc003glc.3_Silent_p.A506A|ACOX3_uc003gld.3_Silent_p.A506A|ACOX3_uc003gle.1_Silent_p.A411A	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	506					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			central_nervous_system(1)	1						CCAAGCAGTCGGCAACACTGG	0.577													A	8390919	G	A	8390919	2	1	270	1	0	0	0	0	0	0	0	1	160	1103	39	1		1	ACOX3	4	8390919	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	148355	8390919	182763357	334	133834											
BST1	683	broad.mit.edu	37	chr4	15733442	15733442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcattcccctctttctgGtgctggcttccaggactcaa	7	13	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:15733442G>A	uc003goh.3	+	9	1126	c.931G>A	c.(931-933)GTG>ATG	p.V311M	BST1_uc003goi.2_Intron	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	311					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						CCTCTTTCTGGTGCTGGCTTC	0.493													A	15733442	G	A	15733442	3	1	270	1	0	0	0	0	1	0	0	0	1533	1261	44	4	965	4	BST1	4	15733442	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7342523	15733442	175420834	335	133835											
KLF3	51274	broad.mit.edu	37	chr4	38682250	38682250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtttaactaaaagaatgCtcatgtttgacccagttcct	7	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:38682250C>A	uc003gth.3	+	2	336	c.4C>A	c.(4-6)CTC>ATC	p.L2I	KLF3_uc003gtg.2_Missense_Mutation_p.L2I	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	2	Repressor domain.|Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TAAAAGAATGCTCATGTTTGA	0.408													A	38682250	C	A	38682250	3	1	270	1	0	0	0	0	1	0	0	0	8347	797	28	5	6	5	KLF3	4	38682250	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	22948808	38682250	152472026	336	133836											
RBM47	54502	broad.mit.edu	37	chr4	40438542	40438542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttcttgctgctttcCtttcccttcatgatatcggc	5	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:40438542C>T	uc003gvc.2	-	5	1956	c.1246G>A	c.(1246-1248)GGA>AGA	p.G416R	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.G378R	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	416						nucleus	nucleotide binding|RNA binding			breast(3)	3						TGCTGCTTTCCTTTCCCTTCA	0.507													T	40438542	C	T	40438542	3	4	270	1	0	0	0	0	1	0	0	0	13141	690	24	4	547	4	RBM47	4	40438542	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1756292	40438542	150715734	337	133837											
CNGA1	1259	broad.mit.edu	37	chr4	47938530	47938530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaaatttctcaacctTggttaatctttgtttcagtt	5	7	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:47938530T>C	uc003gxt.3	-	11	2247	c.1981A>G	c.(1981-1983)AAG>GAG	p.K661E	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.K730E	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	661	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TTCTCAACCTTGGTTAATCTT	0.458													C	47938530	T	C	47938530	3	2	270	1	0	0	0	0	1	0	0	0	3596	1821	63	3	95	3	CNGA1	4	47938530	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	7499988	47938530	143215746	338	133838											
KDR	3791	broad.mit.edu	37	chr4	55948117	55948125	+	Splice_Site	DEL	TCTTACCCA	TCTTACCCA	-													gtctttttaatatggctgagTcttacccaaaagatggagat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:55948116_55948124GTCTTACCCA>G	uc003has.3	-	29	4150	c.3848_splice	c.e29+1	p.G1283_splice	KDR_uc003hat.1_Splice_Site_p.G1283_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1283					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|Hsp90 protein binding|growth factor 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)	ATATGGCTGAGTCTTACCCAAAAGATGGA	0.383			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			-	55948125	TCTTACCCA	-	55948117	8	5	270	1	0	1	0	1	0	0	1	0	8139	1682	58	0		0	KDR	4	55948117	Splice_Site	DEL	TCTTACCCA	TCGA-HU-A4GN-01A-11D-A25D-08	8009587	55948117	135206159	339	133839											
EXOC1	55763	broad.mit.edu	37	chr4	56726616	56726616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttaaggtggtcaaagTcaagaaatccgataagggag	14	5	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:56726616T>C	uc003hbe.1	+	3	322	c.164T>C	c.(163-165)GTC>GCC	p.V55A	EXOC1_uc003hbf.1_Missense_Mutation_p.V55A|EXOC1_uc003hbg.1_Missense_Mutation_p.V55A	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	55					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GTGGTCAAAGTCAAGAAATCC	0.413													C	56726616	T	C	56726616	3	2	270	1	0	0	0	0	1	0	0	0	5301	1667	58	3	170	3	EXOC1	4	56726616	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	778499	56726616	134427660	340	133840											
EPHA5	2044	broad.mit.edu	37	chr4	66286255	66286256	+	Frame_Shift_Ins	INS	-	-	T													tgttttttgcaattttccctINStttttcacattggtgactgg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:66286254_66286255C>CT	uc003hcy.3	-	5	1624_1625	c.1431_1432G>AG	c.(1429-1434)aaagggfs	p.K477fs	EPHA5_uc003hcx.3_Frame_Shift_Ins_p.K408fs|EPHA5_uc003hcz.3_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cah.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cai.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc003hda.2_Frame_Shift_Ins_p.K477fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	477	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	p.K476N(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						GCAATTTTCCCTTTTTTCACAT	0.356										TSP Lung(17;0.13)			T	66286256	-	T	66286255	7	5	270	1	0	1	1	0	0	0	0	0	5170	1606	56	0	1734	0	EPHA5	4	66286255	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	9559639	66286255	124868021	341	133841											
WDFY3	23001	broad.mit.edu	37	chr4	85708634	85708634	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactaaaaataagttactcaCatggcatacatacagcctga	5	9	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:85708634C>T	uc003hpd.2	-	23	4309	c.3901_splice	c.e23+1	p.C1301_splice		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGTTACTCACATGGCATACA	0.328													T	85708634	C	T	85708634	5	4	270	1	0	0	0	0	0	0	1	0	17267	492	17	4	6862	4	WDFY3	4	85708634	Splice_Site	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	19422379	85708634	105445642	342	133842											
NAP1L5	266812	broad.mit.edu	37	chr4	89618768	89618768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccatctgaccagccgcGctgtcagggtcaccagccgc	11	17	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:89618768G>A	uc003hrx.2	-	1	256	c.138C>T	c.(136-138)AGC>AGT	p.S46S	HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	46					nucleosome assembly	nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		GACCAGCCGCGCTGTCAGGGT	0.343													A	89618768	G	A	89618768	2	1	270	1	0	0	0	0	0	0	0	1	10160	1078	38	1		1	NAP1L5	4	89618768	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3910134	89618768	101535508	343	133843											
TIGD2	166815	broad.mit.edu	37	chr4	90035667	90035667	+	Frame_Shift_Del	DEL	A	A	-													aggcttcggaccataataagAaaaaaacagaagatccaaaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:90035666_90035666GA>G	uc003hsk.3	+	0	1699	c.1541_1541GA>G	c.(1540-1542)agafs	p.R514fs		NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	514					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)		ACCATAATAAGAAAAAAACAG	0.333													-	90035667	A	-	90035667	7	5	270	1	0	1	0	1	0	0	0	0	15893	243	9	0	1544	0	TIGD2	4	90035667	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	416899	90035667	101118609	344	133844											
MMRN1	22915	broad.mit.edu	37	chr4	90816212	90816212	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcattcttggactataccTgaggatgggaactctcagaa	10	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:90816212T>C	uc003hst.2	+	1	161	c.90T>C	c.(88-90)CCT>CCC	p.P30P	MMRN1_uc010iku.2_Silent_p.P30P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	30					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGACTATACCTGAGGATGGGA	0.443													C	90816212	T	C	90816212	2	2	270	1	0	0	0	0	0	0	0	1	9670	1567	55	3		3	MMRN1	4	90816212	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	780545	90816212	100338064	345	133845											
DAPP1	27071	broad.mit.edu	37	chr4	100789327	100789327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgatccgatctcggtcGttcatctttaaatagatctt	8	10	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:100789327G>A	uc003hvf.3	+	9	918	c.828G>A	c.(826-828)TCG>TCA	p.S276S	DAPP1_uc010ilh.2_3'UTR	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and	276					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity				0				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GATCTCGGTCGTTCATCTTTA	0.438													A	100789327	G	A	100789327	2	1	270	1	0	0	0	0	0	0	0	1	4239	1132	40	1		1	DAPP1	4	100789327	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9973115	100789327	90364949	346	133846											
CENPE	1062	broad.mit.edu	37	chr4	104103997	104103997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttgcatttcctcccaaGgaattctggagaattcgtgt	9	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:104103997G>A	uc003hxb.1	-	11	975	c.885C>T	c.(883-885)TCC>TCT	p.S295S	CENPE_uc003hxc.1_Silent_p.S295S	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	295	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			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCCTCCCAAGGAATTCTGGA	0.353													A	104103997	G	A	104103997	2	1	270	1	0	0	0	0	0	0	0	1	3230	987	35	4		4	CENPE	4	104103997	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3314670	104103997	87050279	347	133847											
PAPSS1	9061	broad.mit.edu	37	chr4	108578093	108578094	+	Frame_Shift_Del	DEL	CT	CT	-													gaaggcactgcaagtactccCtctctctcataaagccattc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:108578092_108578093CCT>C	uc003hyk.3	-	6	938_939	c.854_855AGG>G	c.(853-855)aggfs	p.R285fs	PAPSS1_uc011cfh.1_Non-coding_Transcript	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	285					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|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)		GCAAGTACTCCCTCTCTCTCAT	0.376													-	108578094	CT	-	108578093	7	5	270	1	0	1	0	1	0	0	0	0	11434	681	24	0	1044	0	PAPSS1	4	108578093	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GN-01A-11D-A25D-08	4474096	108578093	82576183	348	133848											
COL25A1	84570	broad.mit.edu	37	chr4	109753592	109753592	+	Splice_Site	DEL	A	A	-													cataggaccatctgtaccctAaaaaaaagataatatgagat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:109753591_109753591TA>T	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						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)		ATCTGTACCCTAAAAAAAAGA	0.393													-	109753592	A	-	109753592	8	5	270	1	0	1	0	1	0	0	1	0	3684	377	13	0		0	COL25A1	4	109753592	Splice_Site	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	1175499	109753592	81400684	349	133849											
CAMK2D	817	broad.mit.edu	37	chr4	114436226	114436226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaagttttacttacaCagatccatgggtgcttcagt	10	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:114436226C>T	uc003ibi.2	-	10	1677	c.818G>A	c.(817-819)TGT>TAT	p.C273Y	CAMK2D_uc003ibj.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibk.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibo.3_Missense_Mutation_p.C273Y|CAMK2D_uc003ibm.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibn.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibl.2_Missense_Mutation_p.C273Y	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	273					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			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTACTTACACAGATCCATGG	0.368													T	114436226	C	T	114436226	3	4	270	1	0	0	0	0	1	0	0	0	2601	492	17	4	812	4	CAMK2D	4	114436226	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4682634	114436226	76718050	350	133850											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005620	118005620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaattaagttccatgttacGtaggcttggatcgtgcaact	10	7	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:118005620G>A	uc003ibv.3	-	1	1117	c.930C>T	c.(928-930)TAC>TAT	p.Y310Y		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	310	Helical; (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						TCCATGTTACGTAGGCTTGGA	0.428													A	118005620	G	A	118005620	2	1	270	1	0	0	0	0	0	0	0	1	16449	1140	40	1		1	TRAM1L1	4	118005620	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3569394	118005620	73148656	351	133851											
TRPC3	7222	broad.mit.edu	37	chr4	122853626	122853626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttgcagaaatagtcgtGcggccgctcgatcctggcac	12	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:122853626G>A	uc003ieg.2	-	2	861	c.787C>T	c.(787-789)CAC>TAC	p.H263Y	TRPC3_uc010inr.2_Missense_Mutation_p.H190Y|TRPC3_uc003ief.2_Missense_Mutation_p.H190Y|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	178	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AAATAGTCGTGCGGCCGCTCG	0.602													A	122853626	G	A	122853626	3	1	270	1	0	0	0	0	1	0	0	0	16576	1319	46	2	2022	2	TRPC3	4	122853626	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4848006	122853626	68300650	352	133852											
ANKRD50	57182	broad.mit.edu	37	chr4	125590320	125590320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaagaaaaacctggttgCtctgaagatgataatttgga	9	6	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:125590320C>T	uc003ifg.3	-	3	4378	c.4112G>A	c.(4111-4113)AGC>AAC	p.S1371N	ANKRD50_uc011cgo.1_Missense_Mutation_p.S1192N|ANKRD50_uc010inw.2_Missense_Mutation_p.S1371N	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1371										central_nervous_system(1)	1						AACCTGGTTGCTCTGAAGATG	0.418													T	125590320	C	T	125590320	3	4	270	1	0	0	0	0	1	0	0	0	677	797	28	2	181	2	ANKRD50	4	125590320	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2736694	125590320	65563956	353	133853											
FAT4	79633	broad.mit.edu	37	chr4	126239735	126239735	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttgggtaccaatggtacTgtcaaatatagcatatctgc	9	8	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126239735T>G	uc003ifj.3	+	1	2169	c.2169T>G	c.(2167-2169)ACT>ACG	p.T723T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	723	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCAATGGTACTGTCAAATATA	0.473													G	126239735	T	G	126239735	2	3	270	1	0	0	0	0	0	0	0	1	5692	1567	55	5		5	FAT4	4	126239735	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	649415	126239735	64914541	354	133854											
FAT4	79633	broad.mit.edu	37	chr4	126372007	126372007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccgatgaggaaaggtGtagctttgccactgttaata	11	8	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126372007G>T	uc003ifj.3	+	9	9836	c.9836G>T	c.(9835-9837)TGT>TTT	p.C3279F	FAT4_uc011cgp.1_Missense_Mutation_p.C1577F|FAT4_uc003ifi.1_Missense_Mutation_p.C757F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3279	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAGGAAAGGTGTAGCTTTGCC	0.403													T	126372007	G	T	126372007	3	4	270	1	0	0	0	0	1	0	0	0	5692	1377	48	5	9870	5	FAT4	4	126372007	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	132272	126372007	64782269	355	133855											
FAT4	79633	broad.mit.edu	37	chr4	126373015	126373015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatccttcacagtctcGgacggtggagatatttgtta	10	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126373015G>A	uc003ifj.3	+	9	10844	c.10844G>A	c.(10843-10845)CGG>CAG	p.R3615Q	FAT4_uc011cgp.1_Missense_Mutation_p.R1913Q|FAT4_uc003ifi.1_Missense_Mutation_p.R1093Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3615	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCACAGTCTCGGACGGTGGAG	0.438													A	126373015	G	A	126373015	3	1	270	1	0	0	0	0	1	0	0	0	5692	1116	39	1	10878	1	FAT4	4	126373015	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1008	126373015	64781261	356	133856											
FAT4	79633	broad.mit.edu	37	chr4	126373581	126373581	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtggaatctgtggatcatGactcctgtgtgcatggccca	13	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126373581G>A	uc003ifj.3	+	9	11410	c.11410G>A	c.(11410-11412)GAC>AAC	p.D3804N	FAT4_uc011cgp.1_Missense_Mutation_p.D2102N|FAT4_uc003ifi.1_Missense_Mutation_p.D1282N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3804	Extracellular (Potential).|EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTGGATCATGACTCCTGTGT	0.483													A	126373581	G	A	126373581	3	1	270	1	0	0	0	0	1	0	0	0	5692	1290	45	4	11444	4	FAT4	4	126373581	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	566	126373581	64780695	357	133857											
TBC1D9	23158	broad.mit.edu	37	chr4	141583179	141583179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatccctctcaatctcctcCgtggcgagattatacttccc	5	15	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:141583179C>T	uc010ioj.2	-	10	1943	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	557	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CAATCTCCTCCGTGGCGAGAT	0.478													T	141583179	C	T	141583179	2	4	270	1	0	0	0	0	0	0	0	1	15624	639	23	1		1	TBC1D9	4	141583179	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	15209598	141583179	49571097	358	133858											
OTUD4	54726	broad.mit.edu	37	chr4	146064586	146064586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgttgcatatttatcAtcagtaatattctttggaag	7	5	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:146064586A>G	uc003ika.3	-	17	1557	c.1419T>C	c.(1417-1419)GAT>GAC	p.D473D	OTUD4_uc003ijz.3_Silent_p.D472D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	537							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CATATTTATCATCAGTAATAT	0.343													G	146064586	A	G	146064586	2	3	270	1	0	0	0	0	0	0	0	1	11314	214	8	3		3	OTUD4	4	146064586	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	4481407	146064586	45089690	359	133859											
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:153247366C>T	uc003ims.2	-	10	1585	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	FBXW7_uc011cii.1_Missense_Mutation_p.R479Q|FBXW7_uc003imt.2_Missense_Mutation_p.R479Q|FBXW7_uc011cih.1_Missense_Mutation_p.R303Q|FBXW7_uc003imq.2_Missense_Mutation_p.R399Q|FBXW7_uc003imr.2_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	479	WD 3.				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|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	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								T	153247366	C	T	153247366	3	4	270	1	0	0	0	0	1	0	0	0	5769	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7182780	153247366	37906910	360	133860											
DCHS2	54798	broad.mit.edu	37	chr4	155156861	155156861	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaagggtgttccttcagaGgagaaagacacattcacaaa	10	9	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:155156861G>T	uc003inw.2	-	25	7578	c.7578C>A	c.(7576-7578)TCC>TCA	p.S2526S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2526	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCTTCAGAGGAGAAAGACA	0.408													T	155156861	G	T	155156861	2	4	270	1	0	0	0	0	0	0	0	1	4288	987	35	5		5	DCHS2	4	155156861	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1909495	155156861	35997415	361	133861											
GUCY1B3	2983	broad.mit.edu	37	chr4	156710914	156710914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccatctacccaggaatgCgtgcaccttcctttaggtgc	8	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:156710914C>T	uc003ipc.2	+	5	513	c.346C>T	c.(346-348)CGT>TGT	p.R116C	GUCY1B3_uc011cio.1_Missense_Mutation_p.R138C|GUCY1B3_uc011cip.1_Missense_Mutation_p.R96C|GUCY1B3_uc003ipd.2_Missense_Mutation_p.R44C|GUCY1B3_uc010iqf.2_Missense_Mutation_p.R116C|GUCY1B3_uc010iqg.2_Missense_Mutation_p.R44C|GUCY1B3_uc011ciq.1_Missense_Mutation_p.R44C	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	116					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CCCAGGAATGCGTGCACCTTC	0.463													T	156710914	C	T	156710914	3	4	270	1	0	0	0	0	1	0	0	0	6895	768	27	1	364	1	GUCY1B3	4	156710914	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1554053	156710914	34443362	362	133862											
CPE	1363	broad.mit.edu	37	chr4	166403505	166403505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatccatatgatgagacgCggagtggtaggtattctttc	11	6	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:166403505C>T	uc003irg.3	+	4	1061	c.784C>T	c.(784-786)CGG>TGG	p.R262W		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	262					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATGAGACGCGGAGTGGTAG	0.378													T	166403505	C	T	166403505	3	4	270	1	0	0	0	0	1	0	0	0	3799	759	27	1	798	1	CPE	4	166403505	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	9692591	166403505	24750771	363	133863											
MLF1IP	79682	broad.mit.edu	37	chr4	185618812	185618812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagttaccgtttcctttaCgtttggttcttgagcttgaa	10	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:185618812C>T	uc003iwq.2	-	12	1202	c.1132G>A	c.(1132-1134)GTA>ATA	p.V378I	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_3'UTR	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	378					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTCCTTTACGTTTGGTTCT	0.358													T	185618812	C	T	185618812	3	4	270	1	0	0	0	0	1	0	0	0	9615	536	19	1	132	1	MLF1IP	4	185618812	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	19215307	185618812	5535464	364	133864											
LRP2BP	55805	broad.mit.edu	37	chr4	186291916	186291916	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgaactccgggagacagtCtgtgacctgggcgatcatgg	15	9	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:186291916C>A	uc003ixj.1	-	7	1668	c.856G>T	c.(856-858)GAC>TAC	p.D286Y	LRP2BP_uc003ixk.1_Missense_Mutation_p.D260Y|LRP2BP_uc011ckr.1_Missense_Mutation_p.D286Y	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	286						cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GGGAGACAGTCTGTGACCTGG	0.507													A	186291916	C	A	186291916	3	1	270	1	0	0	0	0	1	0	0	0	8957	913	32	5	195	5	LRP2BP	4	186291916	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	673104	186291916	4862360	365	133865											
FAT1	2195	broad.mit.edu	37	chr4	187519257	187519257	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggtccctatgtacaaGgcactgcatttgcagtaata	10	9	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:187519257G>T	uc003izf.2	-	23	12314	c.12126C>A	c.(12124-12126)GCC>GCA	p.A4042A	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4042	Extracellular (Potential).|EGF-like 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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTATGTACAAGGCACTGCATT	0.433										HNSCC(5;0.00058)			T	187519257	G	T	187519257	2	4	270	1	0	0	0	0	0	0	0	1	5689	987	35	5		5	FAT1	4	187519257	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1227341	187519257	3635019	366	133866											
FAT1	2195	broad.mit.edu	37	chr4	187540947	187540947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccacaaatacttcagCatgagcgcccgtcaaggagt	10	11	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:187540947C>T	uc003izf.2	-	10	6981	c.6793G>A	c.(6793-6795)GCT>ACT	p.A2265T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2265	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AATACTTCAGCATGAGCGCCC	0.488										HNSCC(5;0.00058)			T	187540947	C	T	187540947	3	4	270	1	0	0	0	0	1	0	0	0	5689	710	25	2	7045	2	FAT1	4	187540947	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	21690	187540947	3613329	367	133867											
TUBB4Q	56604	broad.mit.edu	37	chr4	190904370	190904370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatatgtcatatagcgcttCgttatctatgcagaaggtct	8	8	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:190904370C>T	uc011clg.1	-	4	613	c.610G>A	c.(610-612)GAA>AAA	p.E204K		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		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;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		TATAGCGCTTCGTTATCTATG	0.537													T	190904370	C	T	190904370	3	4	270	1	0	0	0	0	1	0	0	0	16756	893	31	1	694	1	TUBB4Q	4	190904370	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3363423	190904370	249906	368	133868											
SLC9A3	6550	broad.mit.edu	37	chr5	483524	483524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcttcatggtgtagcGcacggtggtggccgactgct	14	11	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:483524G>A	uc003jbe.2	-	6	1118	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	SLC9A3_uc011clx.1_Missense_Mutation_p.R336C	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	336	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ATGGTGTAGCGCACGGTGGTG	0.587													A	483524	G	A	483524	3	1	270	1	0	0	0	0	1	0	0	0	14713	1087	38	1	1546	1	SLC9A3	5	483524	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08		483524	180431736	369	133869											
BRD9	65980	broad.mit.edu	37	chr5	865542	865542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcacccaggtggtgctgGtccctctcggaggcgttgga	14	12	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:865542G>A	uc003jbq.2	-	15	1847	c.1680C>T	c.(1678-1680)GAC>GAT	p.D560D	BRD9_uc003jbl.2_Silent_p.D444D|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.D507D|BRD9_uc003jbo.2_Silent_p.D464D	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	560							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGTGGTGCTGGTCCCTCTCGG	0.657													A	865542	G	A	865542	2	1	270	1	0	0	0	0	0	0	0	1	1507	1252	44	4		4	BRD9	5	865542	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	382018	865542	180049718	370	133870											
CLPTM1L	81037	broad.mit.edu	37	chr5	1339036	1339036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagacaaagttgtccgCcatcacgttcagcgccagcc	9	14	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:1339036C>T	uc003jch.2	-	4	584	c.538G>A	c.(538-540)GCG>ACG	p.A180T	CLPTM1L_uc003jcg.2_Missense_Mutation_p.A47T	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	180	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	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)		AAGTTGTCCGCCATCACGTTC	0.617													T	1339036	C	T	1339036	3	4	270	1	0	0	0	0	1	0	0	0	3555	739	26	2	1134	2	CLPTM1L	5	1339036	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	473494	1339036	179576224	371	133871											
NDUFS6	4726	broad.mit.edu	37	chr5	1814469	1814469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgaatgaaaactttgCcattgatttgatagcagagc	10	7	0	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:1814469C>T	uc003jcy.2	+	3	226	c.203C>T	c.(202-204)GCC>GTC	p.A68V		NM_004553	NP_004544	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6,	68					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1					NADH(DB00157)	GAAAACTTTGCCATTGATTTG	0.458													T	1814469	C	T	1814469	3	4	270	1	0	0	0	0	1	0	0	0	10296	739	26	2	213	2	NDUFS6	5	1814469	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	475433	1814469	179100791	372	133872											
IRX2	153572	broad.mit.edu	37	chr5	2748668	2748668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgccgtagaagggcgacGtgtagtagagggggcggccc	19	8	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:2748668G>A	uc003jda.2	-	3	1396	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M	IRX2_uc003jdb.2_Missense_Mutation_p.T385M	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	385						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GAAGGGCGACGTGTAGTAGAG	0.592													A	2748668	G	A	2748668	3	1	270	1	0	0	0	0	1	0	0	0	7844	1145	40	1	269	1	IRX2	5	2748668	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	934199	2748668	178166592	373	133873											
SEMA5A	9037	broad.mit.edu	37	chr5	9224864	9224864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtaaatggcaggatcacGtcctggaaaatccatggctg	12	9	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:9224864G>A	uc003jek.2	-	8	1280	c.568C>T	c.(568-570)CGT>TGT	p.R190C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	190	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GCAGGATCACGTCCTGGAAAA	0.567													A	9224864	G	A	9224864	3	1	270	1	0	0	0	0	1	0	0	0	14037	1145	40	1	2720	1	SEMA5A	5	9224864	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	6476196	9224864	171690396	374	133874											
ADAMTS12	81792	broad.mit.edu	37	chr5	33624406	33624406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctcccaggcacacaccGcagcgatcctcggtggcatt	9	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:33624406G>A	uc003jia.1	-	14	2236	c.2073C>T	c.(2071-2073)TGC>TGT	p.C691C	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	691	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGCACACACCGCAGCGATCCT	0.507										HNSCC(64;0.19)			A	33624406	G	A	33624406	2	1	270	1	0	0	0	0	0	0	0	1	257	1079	38	1		1	ADAMTS12	5	33624406	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	24399542	33624406	147290854	375	133875											
SLC45A2	51151	broad.mit.edu	37	chr5	33947392	33947392	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacattcgggaagagcccaAtaaatcccgtccccaggcca	9	14	0	2	rs112249076		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:33947392A>C	uc003jid.2	-	6	1336	c.1244T>G	c.(1243-1245)ATT>AGT	p.I415S	SLC45A2_uc003jie.2_Missense_Mutation_p.I415S	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	415	Helical; Name=9; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAAGAGCCCAATAAATCCCGT	0.478													C	33947392	A	C	33947392	3	2	270	1	0	0	0	0	1	0	0	0	14641	101	4	5	371	5	SLC45A2	5	33947392	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	322986	33947392	146967868	376	133876											
UGT3A2	167127	broad.mit.edu	37	chr5	36049012	36049012	+	Frame_Shift_Del	DEL	T	T	-													tgtggtactggtttaataggTttttccatcaagcctccaac							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:36049011_36049011GT>G	uc003jjz.2	-	3	955	c.823_823AC>C	c.(823-825)cctfs	p.P275fs	UGT3A2_uc011cos.2_Frame_Shift_Del_p.P241fs|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	275						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTTTAATAGGTTTTTCCATC	0.458													-	36049012	T	-	36049012	7	5	270	1	0	1	0	1	0	0	0	0	16961	1722	60	0	765	0	UGT3A2	5	36049012	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	2101620	36049012	144866248	377	133877											
NIPBL	25836	broad.mit.edu	37	chr5	37022491	37022491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgctgattgaaagaatatTggtatgtttgtcatttttat	8	2	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:37022491T>C	uc003jkl.3	+	29	6072	c.5573T>C	c.(5572-5574)TTG>TCG	p.L1858S	NIPBL_uc003jkk.3_Missense_Mutation_p.L1858S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1858	HEAT 2.				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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			GAAAGAATATTGGTATGTTTG	0.323													C	37022491	T	C	37022491	3	2	270	1	0	0	0	0	1	0	0	0	10428	1826	63	3	5683	3	NIPBL	5	37022491	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	973479	37022491	143892769	378	133878											
DAB2	1601	broad.mit.edu	37	chr5	39383287	39383287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaacaggaggtgatgccGtttgttaagaatggattttc	13	4	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:39383287G>A	uc003jlx.2	-	10	1305	c.774C>T	c.(772-774)AAC>AAT	p.N258N	DAB2_uc003jlw.2_Silent_p.N237N	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	258					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			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AGGTGATGCCGTTTGTTAAGA	0.423													A	39383287	G	A	39383287	2	1	270	1	0	0	0	0	0	0	0	1	4218	1136	40	1		1	DAB2	5	39383287	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2360796	39383287	141531973	379	133879											
PRKAA1	5562	broad.mit.edu	37	chr5	40767586	40767586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatatctttgattgtgGccctcttcatgggatccacc	8	12	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:40767586G>A	uc003jmc.2	-	6	809	c.803C>T	c.(802-804)GCC>GTC	p.A268V	PRKAA1_uc003jmb.2_Missense_Mutation_p.A283V	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	268	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)	TTTGATTGTGGCCCTCTTCAT	0.284													A	40767586	G	A	40767586	3	1	270	1	0	0	0	0	1	0	0	0	12493	1203	42	2	892	2	PRKAA1	5	40767586	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1384299	40767586	140147674	380	133880											
DHX29	54505	broad.mit.edu	37	chr5	54552344	54552344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgtttttatcaattccGtaatgatctgcagaatcttg	6	8	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:54552344G>A	uc003jpx.2	-	27	4202	c.4082C>T	c.(4081-4083)ACG>ATG	p.T1361M	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1361							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TATCAATTCCGTAATGATCTG	0.313													A	54552344	G	A	54552344	3	1	270	1	0	0	0	0	1	0	0	0	4503	1145	40	1	31	1	DHX29	5	54552344	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	13784758	54552344	126362916	381	133881											
IL6ST	3572	broad.mit.edu	37	chr5	55236979	55236979	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaggcatgccttcatcagtCgcagcctccatgccaactgt	8	14	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:55236979C>T	uc003jqq.2	-	17	2943	c.2688G>A	c.(2686-2688)GCG>GCA	p.A896A	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Silent_p.A835A|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Silent_p.A215A|IL6ST_uc011cqk.1_Silent_p.A607A|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	896	Cytoplasmic (Potential).				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CTTCATCAGTCGCAGCCTCCA	0.468			O		hepatocellular ca								T	55236979	C	T	55236979	2	4	270	1	0	0	0	0	0	0	0	1	7703	871	31	1		1	IL6ST	5	55236979	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	684635	55236979	125678281	382	133882											
HTR1A	3350	broad.mit.edu	37	chr5	63256583	63256583	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttgcgctcatttttcctctCgaaagaggcgggggcacaag	13	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:63256583C>A	uc011cqt.1	-	1	964	c.964G>T	c.(964-966)GAG>TAG	p.E322*		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	322	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		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)	TTTTTCCTCTCGAAAGAGGCG	0.617													A	63256583	C	A	63256583	4	1	270	1	0	0	0	0	0	1	0	0	7436	893	31	5	307	5	HTR1A	5	63256583	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	8019604	63256583	117658677	383	133883											
PIK3R1	5295	broad.mit.edu	37	chr5	67591106	67591106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaacgtatgaacagcattAaaccagaccttatccagctg	6	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:67591106A>G	uc003jva.2	+	13	2259	c.1699A>G	c.(1699-1701)AAA>GAA	p.K567E	PIK3R1_uc003jvb.2_Missense_Mutation_p.K567E|PIK3R1_uc003jvc.2_Missense_Mutation_p.K267E|PIK3R1_uc003jvd.2_Missense_Mutation_p.K297E|PIK3R1_uc003jve.2_Missense_Mutation_p.K246E|PIK3R1_uc011crb.1_Missense_Mutation_p.K237E	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	567					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.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		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)	GAACAGCATTAAACCAGACCT	0.368			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			G	67591106	A	G	67591106	3	3	270	1	0	0	0	0	1	0	0	0	11918	363	13	3	1875	3	PIK3R1	5	67591106	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	4334523	67591106	113324154	384	133884											
PIK3R1	5295	broad.mit.edu	37	chr5	67592033	67592034	+	Frame_Shift_Ins	INS	-	-	C													ggaagatgatgaagatttgcINScccatcatgatgagaagaca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:67592032_67592033G>GC	uc003jva.3	+	14	2428_2429	c.1848_1849G>GC	c.(1846-1851)ttgcccfs	p.L616fs	PIK3R1_uc003jvc.3_Frame_Shift_Ins_p.L316fs|PIK3R1_uc003jvd.3_Frame_Shift_Ins_p.L346fs|PIK3R1_uc003jve.3_Frame_Shift_Ins_p.L295fs|PIK3R1_uc021xzn.1_Frame_Shift_Ins_p.L253fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	616					T cell costimulation|T cell receptor signaling pathway|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	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)		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)	ATGAAGATTTGCCCCATCATGA	0.48			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67592034	-	C	67592033	7	5	270	1	0	1	1	0	0	0	0	0	11918	739	26	0	2033	0	PIK3R1	5	67592033	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	927	67592033	113323227	385	133885											
BDP1	55814	broad.mit.edu	37	chr5	70785246	70785246	+	Frame_Shift_Del	DEL	G	G	-													ttcagtgaaaaaagttgcctGtgaaggagtgaataatgatc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:70785245_70785245TG>T	uc003kbp.1	+	9	1491	c.1228_1228TG>T	c.(1228-1230)tgtfs	p.C410fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.C410fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.C410fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	410	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)		AAAAGTTGCCTGTGAAGGAGT	0.353													-	70785246	G	-	70785246	7	5	270	1	0	1	0	1	0	0	0	0	1395	1377	48	0	1267	0	BDP1	5	70785246	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	3193213	70785246	110130014	386	133886											
SV2C	22987	broad.mit.edu	37	chr5	75428050	75428050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcccttttcttcgtcctgGgcatggctcttatggcagac	12	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:75428050G>T	uc003kei.1	+	2	609	c.475G>T	c.(475-477)GGC>TGC	p.G159C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	159	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTTCGTCCTGGGCATGGCTCT	0.512													T	75428050	G	T	75428050	3	4	270	1	0	0	0	0	1	0	0	0	15416	1232	43	5	477	5	SV2C	5	75428050	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4642804	75428050	105487210	387	133887											
CMYA5	202333	broad.mit.edu	37	chr5	79025669	79025669	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatacagctcaggcattcaCagtcagtgccacaacagcca	8	13	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:79025669C>T	uc003kgc.2	+	2	1153	c.1081C>T	c.(1081-1083)CAG>TAG	p.Q361*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	361						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		CAGGCATTCACAGTCAGTGCC	0.483													T	79025669	C	T	79025669	4	4	270	1	0	0	0	0	0	1	0	0	3590	479	17	4	1087	4	CMYA5	5	79025669	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3597619	79025669	101889591	388	133888											
THBS4	7060	broad.mit.edu	37	chr5	79366538	79366538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattggcgacgcttgtgacGaggatgctgacggagatggg	18	7	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:79366538G>A	uc003kgh.2	+	13	1848	c.1525G>A	c.(1525-1527)GAG>AAG	p.E509K	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	509	TSP type-3 2.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CGCTTGTGACGAGGATGCTGA	0.532													A	79366538	G	A	79366538	3	1	270	1	0	0	0	0	1	0	0	0	15853	1059	37	1	1571	1	THBS4	5	79366538	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	340869	79366538	101548722	389	133889											
GPR98	84059	broad.mit.edu	37	chr5	90159637	90159637	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtttgcagctaaacTtctgactcacatgatggcag	8	11	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:90159637T>G	uc003kju.2	+	83	17915	c.17819T>G	c.(17818-17820)CTT>CGT	p.L5940R	GPR98_uc003kjt.2_Missense_Mutation_p.L3646R|GPR98_uc003kjw.2_Missense_Mutation_p.L1601R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5940	Helical; (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		GCAGCTAAACTTCTGACTCAC	0.418													G	90159637	T	G	90159637	3	3	270	1	0	0	0	0	1	0	0	0	6721	1609	56	5	18149	5	GPR98	5	90159637	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	10793099	90159637	90755623	390	133890											
TTC37	9652	broad.mit.edu	37	chr5	94852270	94852270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgaaacagtgctgagCaagggcataatttccaatac	9	7	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:94852270C>T	uc003klb.2	-	24	2806	c.2536G>A	c.(2536-2538)GCT>ACT	p.A846T		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	846	TPR 14.						binding			ovary(3)|pancreas(1)	4						CAGTGCTGAGCAAGGGCATAA	0.294													T	94852270	C	T	94852270	3	4	270	1	0	0	0	0	1	0	0	0	16702	710	25	2	2238	2	TTC37	5	94852270	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4692633	94852270	86062990	391	133891											
ERAP1	51752	broad.mit.edu	37	chr5	96130807	96130807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattctagaagagtcaccGcagcatccagtgcataatct	7	10	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:96130807G>A	uc003kmm.2	-	5	1204	c.857C>T	c.(856-858)GCG>GTG	p.A286V	ERAP1_uc003kml.2_Missense_Mutation_p.A286V|ERAP1_uc010jbm.1_Missense_Mutation_p.A98V|ERAP1_uc003kmn.2_Missense_Mutation_p.A286V	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	286	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2		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)		AAGAGTCACCGCAGCATCCAG	0.378													A	96130807	G	A	96130807	3	1	270	1	0	0	0	0	1	0	0	0	5203	1087	38	1	2061	1	ERAP1	5	96130807	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1278537	96130807	84784453	392	133892											
PAM	5066	broad.mit.edu	37	chr5	102285672	102285672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattggacggcagagccctcAgctgccacaggtgggtaaaa	14	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:102285672A>C	uc003knw.2	+	10	1164	c.791A>C	c.(790-792)CAG>CCG	p.Q264P	PAM_uc003kns.2_Missense_Mutation_p.Q264P|PAM_uc003knt.2_Missense_Mutation_p.Q264P|PAM_uc003knu.2_Missense_Mutation_p.Q264P|PAM_uc003knv.2_Missense_Mutation_p.Q264P|PAM_uc011cuz.1_Missense_Mutation_p.Q167P	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	264	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				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				0		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)	CAGAGCCCTCAGCTGCCACAG	0.323													C	102285672	A	C	102285672	3	2	270	1	0	0	0	0	1	0	0	0	11412	188	7	5	829	5	PAM	5	102285672	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	6154865	102285672	78629588	393	133893											
RAD50	10111	broad.mit.edu	37	chr5	131931471	131931471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaaaaaggaaaagcggCgtgatgaaatgctgggactt	12	4	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:131931471C>T	uc003kxi.2	+	13	2563	c.2176C>T	c.(2176-2178)CGT>TGT	p.R726C	RAD50_uc003kxh.2_Missense_Mutation_p.R587C	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	726	Zinc-hook.|Potential.				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			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAAAGCGGCGTGATGAAAT	0.428								Homologous_recombination					T	131931471	C	T	131931471	3	4	270	1	0	0	0	0	1	0	0	0	12984	768	27	1	2226	1	RAD50	5	131931471	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	29645799	131931471	48983789	394	133894											
C5orf20	140947	broad.mit.edu	37	chr5	134782702	134782702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgggaactctggggtttCcccaccagctcctctctcca	8	18	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:134782702C>T	uc003lav.2	-	1	337	c.97G>A	c.(97-99)GAA>AAA	p.E33K		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	33						nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGGGGTTTCCCCACCAGCT	0.592													T	134782702	C	T	134782702	3	4	270	1	0	0	0	0	1	0	0	0	2284	864	30	4	641	4	C5orf20	5	134782702	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2851231	134782702	46132558	395	133895											
TGFBI	7045	broad.mit.edu	37	chr5	135391437	135391437	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtacgggaccctgttcacGatggaccgggtgctgacccc	14	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:135391437G>A	uc003lbf.3	+	11	1640	c.1479G>A	c.(1477-1479)ACG>ACA	p.T493T	TGFBI_uc003lbg.3_Silent_p.T226T|TGFBI_uc003lbh.3_Silent_p.T319T|TGFBI_uc011cyb.1_Silent_p.T319T|TGFBI_uc010jed.2_Silent_p.T226T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	493	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTGTTCACGATGGACCGGG	0.572													A	135391437	G	A	135391437	2	1	270	1	0	0	0	0	0	0	0	1	15817	1045	37	1		1	TGFBI	5	135391437	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	608735	135391437	45523823	396	133896											
PKD2L2	27039	broad.mit.edu	37	chr5	137260772	137260772	+	Frame_Shift_Del	DEL	A	A	-													attcagactgaagaaagctcAaaaagatgaagacaagaaaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137260771_137260771CA>C	uc003lby.3	+	10	1650	c.1594_1594CA>C	c.(1594-1596)caafs	p.Q532fs	PKD2L2_uc003lbw.1_Frame_Shift_Del_p.Q532fs|PKD2L2_uc003lbx.3_Frame_Shift_Del_p.Q431fs|PKD2L2_uc011cyi.1_Frame_Shift_Del_p.Q140fs	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	532						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)			GAAGAAAGCTCAAAAAGATGA	0.274													-	137260772	A	-	137260772	7	5	270	1	0	1	0	1	0	0	0	0	11968	130	5	0	1637	0	PKD2L2	5	137260772	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	1869335	137260772	43654488	397	133897											
BRD8	10902	broad.mit.edu	37	chr5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaattgggccatggtgCgaatccgacccttagagaga	14	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137476521C>T	uc003lcf.1	-	26	3543	c.3488G>A	c.(3487-3489)CGC>CAC	p.R1163H	BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1163	Bromo 2.				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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443													T	137476521	C	T	137476521	3	4	270	1	0	0	0	0	1	0	0	0	1506	768	27	1	227	1	BRD8	5	137476521	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	215749	137476521	43438739	398	133898											
CDC25C	995	broad.mit.edu	37	chr5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-													ttccttggccagaaaaatacTtttttttaactttatctggt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|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	WW domain binding|protein tyrosine phosphatase activity			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)			CAGAAAAATACTTTTTTTTAA	0.383													-	137627690	T	-	137627690	7	5	270	1	0	1	0	1	0	0	0	0	3064	1609	56	0	718	0	CDC25C	5	137627690	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	151169	137627690	43287570	399	133899											
CDC25C	995	broad.mit.edu	37	chr5	137661709	137661709	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaagagaggctactcaCtgggctacatttcattaggt	9	7	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137661709C>T	uc003lcp.1	-	5	640	c.369_splice	c.e5+1	p.P123_splice	CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Splice_Site_p.P123_splice|CDC25C_uc011cyp.1_Splice_Site_p.P140_splice|CDC25C_uc003lcs.1_Splice_Site_p.P201_splice|CDC25C_uc010jet.1_Splice_Site_p.P123_splice|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a						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			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGCTACTCACTGGGCTACAT	0.448													T	137661709	C	T	137661709	5	4	270	1	0	0	0	0	0	0	1	0	3064	579	20	4	1091	4	CDC25C	5	137661709	Splice_Site	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	34019	137661709	43253551	400	133900											
EGR1	1958	broad.mit.edu	37	chr5	137802862	137802862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgcctcctgcctaccctGccgccaagggtggcttccag	10	19	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137802862G>A	uc003ldb.1	+	2	994	c.724G>A	c.(724-726)GCC>ACC	p.A242T	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	242					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGCCTACCCTGCCGCCAAGGG	0.647													A	137802862	G	A	137802862	3	1	270	1	0	0	0	0	1	0	0	0	4971	1319	46	2	730	2	EGR1	5	137802862	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	141153	137802862	43112398	401	133901											
SLC4A9	83697	broad.mit.edu	37	chr5	139739839	139739839	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggaaatgaagctgccAggccaggaagggtttgaagc	14	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:139739839A>C	uc003lfm.2	+	1	53	c.18A>C	c.(16-18)CCA>CCC	p.P6P	SLC4A9_uc003lfj.2_Silent_p.P6P|SLC4A9_uc011czg.1_Silent_p.P6P|SLC4A9_uc003lfl.2_Silent_p.P6P|SLC4A9_uc003lfk.2_Silent_p.P6P	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	6	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCTGCCAGGCCAGGAAG	0.557													C	139739839	A	C	139739839	2	2	270	1	0	0	0	0	0	0	0	1	14660	175	7	5		5	SLC4A9	5	139739839	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1936977	139739839	41175421	402	133902											
PCDHA2	56146	broad.mit.edu	37	chr5	140174689	140174689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggcaccttcgtgggccGcatcgcgcaggacctggggc	15	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140174689G>A	uc003lhd.2	+	1	246	c.140G>A	c.(139-141)CGC>CAC	p.R47H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R47H|PCDHA2_uc011czy.1_Missense_Mutation_p.R47H	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	47	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.682													A	140174689	G	A	140174689	3	1	270	1	0	0	0	0	1	0	0	0	11524	1087	38	1	142	1	PCDHA2	5	140174689	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	434850	140174689	40740571	403	133903											
PCDHA2	56146	broad.mit.edu	37	chr5	140176040	140176040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctactcgctggtggagcgGcgggtgggcgagcgcgcgtt	19	11	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140176040G>A	uc003lhd.2	+	1	1597	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.R497R|PCDHA2_uc011czy.1_Silent_p.R497R	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGAGCGGCGGGTGGGCG	0.672													A	140176040	G	A	140176040	2	1	270	1	0	0	0	0	0	0	0	1	11524	1190	42	2		2	PCDHA2	5	140176040	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1351	140176040	40739220	404	133904											
PCDHAC2	56134	broad.mit.edu	37	chr5	140181371	140181371	+	Frame_Shift_Del	DEL	A	A	-													aatcccttggactcgtgttgAaaaaaaatttaaatcgagag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140181370_140181370GA>G	uc003lhf.2	+	0	588	c.588_588GA>G	c.(586-588)ttgfs	p.L196fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Frame_Shift_Del_p.L196fs	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	211	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)			GACTCGTGTTGAAAAAAAATT	0.363													-	140181371	A	-	140181371	7	5	270	1	0	1	0	1	0	0	0	0	11533	247	9	0		0	PCDHAC2	5	140181371	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	5331	140181371	40733889	405	133905											
PCDHA3	56145	broad.mit.edu	37	chr5	140182244	140182244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggacgcgcaggagaacGccctggtgtcctactcgctg	14	14	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140182244G>A	uc003lhf.2	+	1	1462	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A488T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662													A	140182244	G	A	140182244	3	1	270	1	0	0	0	0	1	0	0	0	11525	1087	38	1	1464	1	PCDHA3	5	140182244	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	873	140182244	40733016	406	133906											
PCDHA5	56143	broad.mit.edu	37	chr5	140203136	140203136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccacgtggtggcgaaGgtgcgcgcagtggaccctga	19	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140203136G>A	uc003lhl.2	+	1	1776	c.1776G>A	c.(1774-1776)AAG>AAA	p.K592K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.K592K|PCDHA5_uc003lhj.1_Silent_p.K592K	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	592	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGCGAAGGTGCGCGCAG	0.697													A	140203136	G	A	140203136	2	1	270	1	0	0	0	0	0	0	0	1	11527	991	35	4		4	PCDHA5	5	140203136	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	20892	140203136	40712124	407	133907											
PCDHA6	56142	broad.mit.edu	37	chr5	140208845	140208845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgaactgctcgctgaCgcctcacgtccctttcaagc	10	15	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140208845C>T	uc003lho.2	+	1	1196	c.1169C>T	c.(1168-1170)ACG>ATG	p.T390M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.T390M|PCDHA6_uc011dab.1_Missense_Mutation_p.T390M	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	390	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCGCTGACGCCTCACGTC	0.552													T	140208845	C	T	140208845	3	4	270	1	0	0	0	0	1	0	0	0	11528	536	19	1	1171	1	PCDHA6	5	140208845	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5709	140208845	40706415	408	133908											
PCDHA8	56140	broad.mit.edu	37	chr5	140223022	140223022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatcatcgccatctgcGcggtatccagcctgctggtg	11	14	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140223022G>A	uc003lhs.2	+	1	2116	c.2116G>A	c.(2116-2118)GCG>ACG	p.A706T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A706T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTATCCAG	0.657													A	140223022	G	A	140223022	3	1	270	1	0	0	0	0	1	0	0	0	11530	1087	38	1	2118	1	PCDHA8	5	140223022	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	14177	140223022	40692238	409	133909											
PCDHA10	56139	broad.mit.edu	37	chr5	140237301	140237301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgctcccgc	13	13	0	1	rs139533789	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140237301C>T	uc003lhx.2	+	1	1668	c.1668C>T	c.(1666-1668)GAC>GAT	p.D556D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.D556D	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	556	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687													T	140237301	C	T	140237301	2	4	270	1	0	0	0	0	0	0	0	1	11520	535	19	1		1	PCDHA10	5	140237301	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	14279	140237301	40677959	410	133910											
PCDHA13	56136	broad.mit.edu	37	chr5	140263462	140263462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcagttccaggtgagcGcgcgcgactctggcgtgccg	16	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140263462G>A	uc003lif.2	+	1	1609	c.1609G>A	c.(1609-1611)GCG>ACG	p.A537T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A537T|PCDHA13_uc003lid.2_Missense_Mutation_p.A537T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGACTC	0.682													A	140263462	G	A	140263462	3	1	270	1	0	0	0	0	1	0	0	0	11523	1087	38	1	1611	1	PCDHA13	5	140263462	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	26161	140263462	40651798	411	133911											
PCDHA13	56136	broad.mit.edu	37	chr5	140263782	140263782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacgaggtggacgcgccGcaccaccgccttctggtgct	14	15	1	0	rs146010500		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140263782G>A	uc003lif.2	+	1	1929	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.P643P|PCDHA13_uc003lid.2_Silent_p.P643P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	643	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGCGCCGCACCACCGCC	0.701													A	140263782	G	A	140263782	2	1	270	1	0	0	0	0	0	0	0	1	11523	1074	38	1		1	PCDHA13	5	140263782	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	320	140263782	40651478	412	133912											
PCDHB3	56132	broad.mit.edu	37	chr5	140481823	140481823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcgttcgagttccgCgtgggcgccacagaccgtgg	16	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140481823C>T	uc003lio.2	+	1	1590	c.1590C>T	c.(1588-1590)CGC>CGT	p.R530R	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGCGTGGGCGCCA	0.667													T	140481823	C	T	140481823	2	4	270	1	0	0	0	0	0	0	0	1	11543	755	27	1		1	PCDHB3	5	140481823	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	218041	140481823	40433437	413	133913											
PCDHB5	26167	broad.mit.edu	37	chr5	140515436	140515436	+	Frame_Shift_Del	DEL	A	A	-													ccagagaaggaaatgctcctAaaaatcccagagagcaccca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140515435_140515435TA>T	uc003liq.3	+	0	636	c.419_419TA>T	c.(418-420)ctafs	p.L140fs		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	140	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATGCTCCTAAAAATCCCA	0.448													-	140515436	A	-	140515436	7	5	270	1	0	1	0	1	0	0	0	0	11545	349	13	0	422	0	PCDHB5	5	140515436	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	33613	140515436	40399824	414	133914											
PCDHB6	56130	broad.mit.edu	37	chr5	140530412	140530412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaaggcaggaagttcccgGagctggtgctagacaaaccg	15	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140530412G>A	uc003lir.2	+	1	574	c.574G>A	c.(574-576)GAG>AAG	p.E192K	PCDHB6_uc011dah.1_Missense_Mutation_p.E56K	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	192	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTTCCCGGAGCTGGTGCT	0.617													A	140530412	G	A	140530412	3	1	270	1	0	0	0	0	1	0	0	0	11546	1175	41	4	576	4	PCDHB6	5	140530412	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	14976	140530412	40384848	415	133915											
PCDHB6	56130	broad.mit.edu	37	chr5	140531180	140531180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaatgacaacgtccccGccttcacccaaacctcctac	4	19	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140531180G>A	uc003lir.2	+	1	1342	c.1342G>A	c.(1342-1344)GCC>ACC	p.A448T	PCDHB6_uc011dah.1_Missense_Mutation_p.A312T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	448	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGTCCCCGCCTTCACCCA	0.567													A	140531180	G	A	140531180	3	1	270	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1344	1	PCDHB6	5	140531180	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	768	140531180	40384080	416	133916											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712198	140712198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggccgtccaggaccaCggccagcccccgctctccgc	13	19	1	0	rs138362456		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140712198C>T	uc003lji.1	+	1	1947	c.1947C>T	c.(1945-1947)CAC>CAT	p.H649H	PCDHGA1_uc011dan.1_Silent_p.H649H	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	649	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCACGGCCAGCCCC	0.706													T	140712198	C	T	140712198	2	4	270	1	0	0	0	0	0	0	0	1	11550	535	19	1		1	PCDHGA1	5	140712198	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	181018	140712198	40203062	417	133917											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712241	140712241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgctcaccgtggccGtggccgacaggatctccgac	12	16	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140712241G>A	uc003lji.1	+	1	1990	c.1990G>A	c.(1990-1992)GTG>ATG	p.V664M	PCDHGA1_uc011dan.1_Missense_Mutation_p.V664M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.682													A	140712241	G	A	140712241	3	1	270	1	0	0	0	0	1	0	0	0	11550	1145	40	1	1992	1	PCDHGA1	5	140712241	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	43	140712241	40203019	418	133918											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719675	140719675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagagactctgggcagaaCgcattcaccacctgttcact	9	12	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140719675C>T	uc003ljk.1	+	1	1322	c.1137C>T	c.(1135-1137)AAC>AAT	p.N379N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.N379N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	379	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCAGAACGCATTCACCA	0.433													T	140719675	C	T	140719675	2	4	270	1	0	0	0	0	0	0	0	1	11554	535	19	1		1	PCDHGA2	5	140719675	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7434	140719675	40195585	419	133919											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751770	140751770	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcgggatacaacgcctgGctgtcctaccacattgtgca	10	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140751770G>A	uc003ljw.1	+	1	1809	c.1809G>A	c.(1807-1809)TGG>TGA	p.W603*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.W603*|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	603	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCCTGGCTGTCCTACC	0.667													A	140751770	G	A	140751770	4	1	270	1	0	0	0	0	0	1	0	0	11564	1212	42	2	1811	2	PCDHGB3	5	140751770	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	32095	140751770	40163490	420	133920											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763761	140763761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggtggaactcctccctTgtccagggaaactcacatat	9	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140763761T>C	uc003lka.1	+	1	1295	c.1295T>C	c.(1294-1296)TTG>TCG	p.L432S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.L432S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	432	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCTCCCTTGTCCAGGGAA	0.463													C	140763761	T	C	140763761	3	2	270	1	0	0	0	0	1	0	0	0	11559	1821	63	3	1297	3	PCDHGA7	5	140763761	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	11991	140763761	40151499	421	133921											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764588	140764588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgtcttcctagccttcGtcctcgtactgctggcgctc	9	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140764588G>A	uc003lka.1	+	1	2122	c.2122G>A	c.(2122-2124)GTC>ATC	p.V708I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.V708I|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	708	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAGCCTTCGTCCTCGTACT	0.627													A	140764588	G	A	140764588	3	1	270	1	0	0	0	0	1	0	0	0	11559	1145	40	1	2124	1	PCDHGA7	5	140764588	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	827	140764588	40150672	422	133922											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769384	140769384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccttctggtcgccgtgCgtgacggtggacagccacca	14	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140769384C>T	uc003lkc.1	+	1	1933	c.1933C>T	c.(1933-1935)CGT>TGT	p.R645C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R645C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	645	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCGCCGTGCGTGACGGTGG	0.697													T	140769384	C	T	140769384	3	4	270	1	0	0	0	0	1	0	0	0	11565	768	27	1	1935	1	PCDHGB4	5	140769384	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4796	140769384	40145876	423	133923											
PCDHGC5	56097	broad.mit.edu	37	chr5	140810686	140810688	+	In_Frame_Del	DEL	AGT	AGT	-													gtgaaaatatatggagtagaAgtagaagtaagggacattaa					rs147514897		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140810685_140810687AAGT>A	uc003lkt.2	+	0	528_530	c.359_361AAGT>A	c.(358-363)gaagta>gAta	p.120_121EV>D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_In_Frame_Del_p.120_121EV>D	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	120	Cadherin 1.				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)			TATGGAGTAGAAGTAGAAGTAAG	0.424													-	140810688	AGT	-	140810686	7	5	270	1	0	1	0	1	0	0	0	0	11571	69	3	0		0	PCDHGC5	5	140810686	In_Frame_Del	DEL	AGT	TCGA-HU-A4GN-01A-11D-A25D-08	41302	140810686	40104574	424	133924											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866576	140866576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttcctatcagctcctggaGgccccagatcccagcctgtt	9	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140866576G>T	uc003lky.1	+	1	1836	c.1836G>T	c.(1834-1836)GAG>GAT	p.E612D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.E612D|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	612	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCCTGGAGGCCCCAGATC	0.557													T	140866576	G	T	140866576	3	4	270	1	0	0	0	0	1	0	0	0	11570	991	35	5	1838	5	PCDHGC4	5	140866576	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	55890	140866576	40048684	425	133925											
JAKMIP2	9832	broad.mit.edu	37	chr5	147024421	147024421	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatacacaccatttctgAattttccttggtaacggctt	7	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:147024421A>T	uc003loq.1	-	6	1457	c.1075T>A	c.(1075-1077)TCA>ACA	p.S359T	JAKMIP2_uc011dbx.1_Missense_Mutation_p.S317T|JAKMIP2_uc003lor.1_Missense_Mutation_p.S359T|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.S359T	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	359	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATTTCTGAATTTTCCTTG	0.398													T	147024421	A	T	147024421	3	4	270	1	0	0	0	0	1	0	0	0	7941	246	9	5	1421	5	JAKMIP2	5	147024421	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	6157845	147024421	33890839	426	133926											
FBXO38	81545	broad.mit.edu	37	chr5	147781951	147781951	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttggtagaatccatttGgacatatatgccccatgttc	10	8	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:147781951G>A	uc003lpf.1	+	5	587	c.467G>A	c.(466-468)TGG>TAG	p.W156*	FBXO38_uc003lpg.1_Nonsense_Mutation_p.W156*|FBXO38_uc003lph.2_Nonsense_Mutation_p.W156*	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	156						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCCATTTGGACATATATG	0.363													A	147781951	G	A	147781951	4	1	270	1	0	0	0	0	0	1	0	0	5746	1357	47	4	481	4	FBXO38	5	147781951	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	757530	147781951	33133309	427	133927											
FBXO38	81545	broad.mit.edu	37	chr5	147807059	147807059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggacggtgaacagcggCggctcttccgagcctagccc	14	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:147807059C>T	uc003lpf.1	+	15	2322	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	FBXO38_uc003lpg.1_Silent_p.G734G|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	734						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACAGCGGCGGCTCTTCCG	0.607													T	147807059	C	T	147807059	2	4	270	1	0	0	0	0	0	0	0	1	5746	755	27	1		1	FBXO38	5	147807059	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	25108	147807059	33108201	428	133928											
PPARGC1B	133522	broad.mit.edu	37	chr5	149206386	149206386	+	Frame_Shift_Del	DEL	C	C	-													cgcctgccccctcatctgcaCcccccagccctgccccggag					rs147140005		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:149206385_149206385AC>A	uc003lrc.3	+	2	493	c.402_402AC>A	c.(400-402)gcafs	p.A134fs	PPARGC1B_uc003lrb.2_Frame_Shift_Del_p.A134fs|PPARGC1B_uc003lrd.3_Frame_Shift_Del_p.A134fs|PPARGC1B_uc021yfr.1_Frame_Shift_Del_p.A109fs|PPARGC1B_uc003lre.1_Frame_Shift_Del_p.A113fs|PPARGC1B_uc003lrf.3_Frame_Shift_Del_p.A113fs	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	134					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator 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)			CCTCATCTGCACCCCCCAGCC	0.617													-	149206386	C	-	149206386	7	5	270	1	0	1	0	1	0	0	0	0	12301	507	18	0	420	0	PPARGC1B	5	149206386	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1399327	149206386	31708874	429	133929											
TNIP1	10318	broad.mit.edu	37	chr5	150436492	150436492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcagcatcaggttgccGtcctcacggggcagggggcc	17	12	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:150436492G>A	uc003ltf.2	-	6	1051	c.462C>T	c.(460-462)GAC>GAT	p.D154D	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Silent_p.D154D|TNIP1_uc010jhn.2_Silent_p.D154D|TNIP1_uc011dco.1_Silent_p.D154D|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Silent_p.D154D|TNIP1_uc003ltg.2_Silent_p.D101D|TNIP1_uc003ltj.2_Silent_p.D154D|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Silent_p.D101D|TNIP1_uc010jhp.1_Silent_p.D101D|TNIP1_uc010jhr.1_Silent_p.D154D|TNIP1_uc003ltk.2_Silent_p.D154D	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	154	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGGTTGCCGTCCTCACGGG	0.682													A	150436492	G	A	150436492	2	1	270	1	0	0	0	0	0	0	0	1	16311	1136	40	1		1	TNIP1	5	150436492	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1230106	150436492	30478768	430	133930											
GRIA1	2890	broad.mit.edu	37	chr5	153078486	153078486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagggcaatgaccgttaCgagggctactgtgtagagct	14	7	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:153078486C>T	uc003lva.3	+	10	1670	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	GRIA1_uc003luy.3_Silent_p.Y435Y|GRIA1_uc003luz.3_Silent_p.Y340Y|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.Y355Y|GRIA1_uc011dcx.1_Silent_p.Y366Y|GRIA1_uc011dcy.1_Silent_p.Y445Y|GRIA1_uc011dcz.1_Silent_p.Y445Y|GRIA1_uc010jia.1_Silent_p.Y415Y	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	435	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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													T	153078486	C	T	153078486	2	4	270	1	0	0	0	0	0	0	0	1	6767	547	19	1		1	GRIA1	5	153078486	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2641994	153078486	27836774	431	133931											
CYFIP2	26999	broad.mit.edu	37	chr5	156816266	156816266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtggcctgtccatgttcGaggtcatcctgacccgcatt	11	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:156816266G>A	uc003lwq.2	+	31	3415	c.3277G>A	c.(3277-3279)GAG>AAG	p.E1093K	CYFIP2_uc011ddn.1_Missense_Mutation_p.E1067K|CYFIP2_uc011ddo.1_Missense_Mutation_p.E897K|CYFIP2_uc003lwr.2_Missense_Mutation_p.E1093K|CYFIP2_uc003lws.2_Missense_Mutation_p.E1093K|CYFIP2_uc003lwt.2_Missense_Mutation_p.E996K|CYFIP2_uc011ddp.1_Missense_Mutation_p.E827K|CYFIP2_uc003lwv.2_Missense_Mutation_p.E48K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1118					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			GTCCATGTTCGAGGTCATCCT	0.597													A	156816266	G	A	156816266	3	1	270	1	0	0	0	0	1	0	0	0	4138	1059	37	1	3387	1	CYFIP2	5	156816266	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3737780	156816266	24098994	432	133932											
ADAM19	8728	broad.mit.edu	37	chr5	156915311	156915311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcggggggaattggccGgcttggaggaggcctcctgg	21	8	0	0	rs146453088	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:156915311G>A	uc003lwz.2	-	21	2576	c.2512C>T	c.(2512-2514)CGG>TGG	p.R838W	ADAM19_uc003lww.1_Missense_Mutation_p.R571W|ADAM19_uc003lwy.2_Missense_Mutation_p.R437W|ADAM19_uc011ddr.1_Missense_Mutation_p.R769W	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	838	Cytoplasmic (Potential).|SH3-binding (Potential).|SH3-binding (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	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)			GGAATTGGCCGGCTTGGAGGA	0.572													A	156915311	G	A	156915311	3	1	270	1	0	0	0	0	1	0	0	0	240	1115	39	1	256	1	ADAM19	5	156915311	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	99045	156915311	23999949	433	133933											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						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)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	270	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	1680755	158596066	22319194	434	133934											
ATP10B	23120	broad.mit.edu	37	chr5	160042879	160042879	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattctccagatgctgtgcAgtttccatgagaagctcatc	9	10	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:160042879A>G	uc003lym.1	-	17	3466	c.2619T>C	c.(2617-2619)ACT>ACC	p.T873T	ATP10B_uc010jit.1_Silent_p.T190T|ATP10B_uc003lyn.2_Silent_p.T431T	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	873	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			GATGCTGTGCAGTTTCCATGA	0.483													G	160042879	A	G	160042879	2	3	270	1	0	0	0	0	0	0	0	1	1117	175	7	3		3	ATP10B	5	160042879	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1446813	160042879	20872381	435	133935											
ODZ2	57451	broad.mit.edu	37	chr5	167420177	167420177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttggctattttgctggcGtatttcataggtaagtcagg	11	7	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:167420177G>A	uc010jjd.2	+	5	1176	c.1176G>A	c.(1174-1176)GCG>GCA	p.A392A	ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.3_Silent_p.A201A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTTTGCTGGCGTATTTCATAG	0.537													A	167420177	G	A	167420177	2	1	270	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167420177	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7377298	167420177	13495083	436	133936											
FBXW11	23291	broad.mit.edu	37	chr5	171305054	171305054	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccagttacaatgacacgcTcatcatactgcagacagagg	9	11	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:171305054T>A	uc003mbm.1	-	7	1240	c.869A>T	c.(868-870)GAG>GTG	p.E290V	FBXW11_uc011dey.1_Missense_Mutation_p.E258V|FBXW11_uc003mbl.1_Missense_Mutation_p.E277V|FBXW11_uc003mbn.1_Missense_Mutation_p.E256V	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	290	WD 2.				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			ovary(1)|breast(1)	2	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)			AATGACACGCTCATCATACTG	0.438													A	171305054	T	A	171305054	3	1	270	1	0	0	0	0	1	0	0	0	5764	1551	54	5	783	5	FBXW11	5	171305054	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3884877	171305054	9610206	437	133937											
CPEB4	80315	broad.mit.edu	37	chr5	173378931	173378931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggtggtgttcctcgaccAttacgagctggtatgattaa	12	7	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:173378931A>G	uc003mcs.3	+	8	3176	c.1770A>G	c.(1768-1770)CCA>CCG	p.P590P	CPEB4_uc010jju.1_Silent_p.P565P|CPEB4_uc010jjv.2_Silent_p.P573P|CPEB4_uc011dfg.1_Silent_p.P565P|CPEB4_uc003mct.3_Silent_p.P200P|CPEB4_uc003mcu.3_Silent_p.P183P	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	590	RRM 2.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCCTCGACCATTACGAGCTG	0.403													G	173378931	A	G	173378931	2	3	270	1	0	0	0	0	0	0	0	1	3803	204	8	3		3	CPEB4	5	173378931	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2073877	173378931	7536329	438	133938											
N4BP3	23138	broad.mit.edu	37	chr5	177546741	177546741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggaagggcttgggccagCgtgagttcctcagctacctg	14	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:177546741C>T	uc003mik.1	+	2	404	c.157C>T	c.(157-159)CGT>TGT	p.R53C	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	53						cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|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)			CTTGGGCCAGCGTGAGTTCCT	0.662													T	177546741	C	T	177546741	3	4	270	1	0	0	0	0	1	0	0	0	10113	768	27	1	159	1	N4BP3	5	177546741	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4167810	177546741	3368519	439	133939											
ZNF354C	30832	broad.mit.edu	37	chr5	178505905	178505905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaccatcagtgaagatGgaaaccatacaagtcttgaa	8	7	2	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:178505905G>A	uc003mju.2	+	5	587	c.472G>A	c.(472-474)GGA>AGA	p.G158R		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		CAGTGAAGATGGAAACCATAC	0.373													A	178505905	G	A	178505905	3	1	270	1	0	0	0	0	1	0	0	0	17863	1349	47	4	486	4	ZNF354C	5	178505905	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	959164	178505905	2409355	440	133940											
GFPT2	9945	broad.mit.edu	37	chr5	179739447	179739447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccaggtaaagatctcaagCcacggatgatctcttgcctc	8	12	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:179739447C>A	uc003mlw.1	-	15	1627	c.1529G>T	c.(1528-1530)GGC>GTC	p.G510V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	510					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			ovary(1)|skin(1)	2	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)	AGATCTCAAGCCACGGATGAT	0.438													A	179739447	C	A	179739447	3	1	270	1	0	0	0	0	1	0	0	0	6346	739	26	5	539	5	GFPT2	5	179739447	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1233542	179739447	1175813	441	133941											
WRNIP1	56897	broad.mit.edu	37	chr6	2783645	2783645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctttgtgatgtcaggtgagGagcattacaactgcatctcc	10	9	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:2783645G>A	uc003mtz.2	+	5	1683	c.1492G>A	c.(1492-1494)GAG>AAG	p.E498K	WRNIP1_uc003mua.2_Missense_Mutation_p.E473K	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	498					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GTCAGGTGAGGAGCATTACAA	0.597													A	2783645	G	A	2783645	3	1	270	1	0	0	0	0	1	0	0	0	17400	1175	41	4	1510	4	WRNIP1	6	2783645	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08		2783645	168331422	442	133942											
DSP	1832	broad.mit.edu	37	chr6	7565702	7565702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaggagctgctgtaCgactggagcgacaagaacac	16	8	0	1	rs149701627		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:7565702C>T	uc003mxp.1	+	7	1167	c.888C>T	c.(886-888)TAC>TAT	p.Y296Y	DSP_uc003mxq.1_Silent_p.Y296Y	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	296	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			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCTGCTGTACGACTGGAGCG	0.547													T	7565702	C	T	7565702	2	4	270	1	0	0	0	0	0	0	0	1	4781	547	19	1		1	DSP	6	7565702	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4782057	7565702	163549365	443	133943											
DSP	1832	broad.mit.edu	37	chr6	7569492	7569492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtggtacgtgacgggccCgggaggcgttgacatgcttg	17	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:7569492C>T	uc003mxp.1	+	12	1772	c.1493C>T	c.(1492-1494)CCG>CTG	p.P498L	DSP_uc003mxq.1_Missense_Mutation_p.P498L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	498	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			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGACGGGCCCGGGAGGCGTT	0.562													T	7569492	C	T	7569492	3	4	270	1	0	0	0	0	1	0	0	0	4781	652	23	1	1539	1	DSP	6	7569492	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3790	7569492	163545575	444	133944											
JARID2	3720	broad.mit.edu	37	chr6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-													aagtcatgcactaaggaggtGggggggcggcagctgcggga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					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)				ACTAAGGAGGTGGGGGGGCGG	0.667													-	15496722	G	-	15496722	7	5	270	1	0	1	0	1	0	0	0	0	7945	1335	47	0	1292	0	JARID2	6	15496722	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	7927230	15496722	155618345	445	133945											
NHLRC1	378884	broad.mit.edu	37	chr6	18122100	18122100	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccgaaggaccccttccgcGaagtcgacgtccaggaggtg	13	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:18122100G>A	uc003ncl.1	-	1	752	c.738C>T	c.(736-738)TTC>TTT	p.F246F		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	246					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCCCTTCCGCGAAGTCGACGT	0.602													A	18122100	G	A	18122100	2	1	270	1	0	0	0	0	0	0	0	1	10405	1049	37	1		1	NHLRC1	6	18122100	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2625378	18122100	152992967	446	133946											
ZNF391	346157	broad.mit.edu	37	chr6	27368577	27368577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaatgcaacaaatgtgGgaaatctttcagccgaagta	9	6	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:27368577G>T	uc003njf.1	+	3	946	c.428G>T	c.(427-429)GGG>GTG	p.G143V		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	143	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						AACAAATGTGGGAAATCTTTC	0.383													T	27368577	G	T	27368577	3	4	270	1	0	0	0	0	1	0	0	0	17876	1232	43	5	430	5	ZNF391	6	27368577	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9246477	27368577	143746490	447	133947											
ZNF165	7718	broad.mit.edu	37	chr6	28053571	28053571	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatcctgccaggagatTtgcaggcctgggtacatgaa	12	10	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:28053571T>C	uc003nkg.2	+	3	1397	c.313T>C	c.(313-315)TTG>CTG	p.L105L	ZNF165_uc003nkh.2_Silent_p.L105L|ZNF165_uc003nki.3_Silent_p.L105L	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	105	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCCAGGAGATTTGCAGGCCTG	0.522													C	28053571	T	C	28053571	2	2	270	1	0	0	0	0	0	0	0	1	17737	1838	64	3		3	ZNF165	6	28053571	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	684994	28053571	143061496	448	133948											
TRIM10	10107	broad.mit.edu	37	chr6	30122079	30122079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccccatgggccaggtcTatactcaccacccacgtgtg	9	17	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30122079T>C	uc003npo.3	-	7	1189	c.1113A>G	c.(1111-1113)ATA>ATG	p.I371M	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	371	B30.2/SPRY.					cytoplasm	zinc ion binding				0						GGGCCAGGTCTATACTCACCA	0.657													C	30122079	T	C	30122079	3	2	270	1	0	0	0	0	1	0	0	0	16483	1512	53	3	424	3	TRIM10	6	30122079	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2068508	30122079	140992988	449	133949											
TRIM39	56658	broad.mit.edu	37	chr6	30309680	30309680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgggaggtggaggtgggcGacaagacccactgggcagtg	19	8	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30309680G>A	uc010jrz.2	+	9	1513	c.1201G>A	c.(1201-1203)GAC>AAC	p.D401N	TRIM39_uc003npz.2_Missense_Mutation_p.D371N|TRIM39_uc003nqb.2_Missense_Mutation_p.D371N|TRIM39_uc003nqc.2_Missense_Mutation_p.D371N|TRIM39_uc010jsa.1_Intron	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	401	B30.2/SPRY.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GGAGGTGGGCGACAAGACCCA	0.612													A	30309680	G	A	30309680	3	1	270	1	0	0	0	0	1	0	0	0	16510	1058	37	1	1227	1	TRIM39	6	30309680	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	187601	30309680	140805387	450	133950											
C6orf136	221545	broad.mit.edu	37	chr6	30617508	30617508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaggccctcagctcagcAtgggtggttctccctccagg	11	15	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30617508A>G	uc003nqw.3	+	2	439	c.246A>G	c.(244-246)GCA>GCG	p.A82A	C6orf136_uc003nqx.3_Silent_p.A263A|C6orf136_uc011dmn.1_Intron	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	82											0						TCAGCTCAGCATGGGTGGTTC	0.622													G	30617508	A	G	30617508	2	3	270	1	0	0	0	0	0	0	0	1	2331	204	8	3		3	C6orf136	6	30617508	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	307828	30617508	140497559	451	133951											
MDC1	9656	broad.mit.edu	37	chr6	30672977	30672977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctggagctcaggggctGtggggacaactgtttcaggg	16	7	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30672977G>A	uc003nrg.3	-	10	4423	c.3983C>T	c.(3982-3984)ACA>ATA	p.T1328I	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.T935I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1328	Pro-rich.|Interaction with the PRKDC 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)|ovary(1)|kidney(1)	4						CTCAGGGGCTGTGGGGACAAC	0.557								Other_conserved_DNA_damage_response_genes					A	30672977	G	A	30672977	3	1	270	1	0	0	0	0	1	0	0	0	9403	1377	48	4	2310	4	MDC1	6	30672977	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	55469	30672977	140442090	452	133952											
DDR1	780	broad.mit.edu	37	chr6	30861185	30861185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggcggctgcactggcgCaggctcctcagcaaggtggg	16	13	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30861185C>T	uc003nrr.2	+	11	1591	c.1332C>T	c.(1330-1332)CGC>CGT	p.R444R	DDR1_uc010jse.2_Silent_p.R444R|DDR1_uc003nrq.2_Silent_p.R444R|DDR1_uc003nrs.2_Silent_p.R444R|DDR1_uc003nrt.2_Silent_p.R444R|DDR1_uc011dms.1_Silent_p.R462R|DDR1_uc003nru.2_Silent_p.R444R|DDR1_uc003nrv.2_Silent_p.R444R|DDR1_uc003nrw.1_Silent_p.R243R|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_RNA	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	444	Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	TGCACTGGCGCAGGCTCCTCA	0.692													T	30861185	C	T	30861185	2	4	270	1	0	0	0	0	0	0	0	1	4336	697	25	2		2	DDR1	6	30861185	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	188208	30861185	140253882	453	133953											
CDSN	1041	broad.mit.edu	37	chr6	31084004	31084004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccagtcagtgtcaaggagGagacagacatgcaagggtga	14	9	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31084004G>A	uc003nsm.1	-	2	1415	c.1388C>T	c.(1387-1389)TCC>TTC	p.S463F	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	463	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2						TGTCAAGGAGGAGACAGACAT	0.592													A	31084004	G	A	31084004	3	1	270	1	0	0	0	0	1	0	0	0	3179	1174	41	4	205	4	CDSN	6	31084004	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	222819	31084004	140031063	454	133954											
NFKBIL1	4795	broad.mit.edu	37	chr6	31525862	31525862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcagatcgcctggcccGggaacatgcccagaagtgcc	13	14	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31525862G>A	uc003nub.2	+	4	739	c.620G>A	c.(619-621)CGG>CAG	p.R207Q	NFKBIL1_uc011dnr.1_Missense_Mutation_p.R169Q|NFKBIL1_uc011dns.1_Missense_Mutation_p.R184Q|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.R192Q	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	207					cytoplasmic sequestering of transcription factor		protein binding				0						CGCCTGGCCCGGGAACATGCC	0.632													A	31525862	G	A	31525862	3	1	270	1	0	0	0	0	1	0	0	0	10381	1116	39	1	634	1	NFKBIL1	6	31525862	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	441858	31525862	139589205	455	133955											
BAT2	7916	broad.mit.edu	37	chr6	31595588	31595588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacctgaagatgaggAtgaggcatggcggcagcgac	15	11	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31595588A>G	uc003nvb.3	+	12	1586	c.1337A>G	c.(1336-1338)GAT>GGT	p.D446G	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.D446G	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	446	4 X 57 AA type A repeats.|2 X type B repeats.					cytoplasm|nucleus	protein binding				0						GAAGATGAGGATGAGGCATGG	0.602													G	31595588	A	G	31595588	3	3	270	1	0	0	0	0	1	0	0	0	1319	333	12	3	1379	3	BAT2	6	31595588	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	69726	31595588	139519479	456	133956											
HSPA1L	3305	broad.mit.edu	37	chr6	31778571	31778571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccacgtccagcagcagCaggtcctgtaccttctcaga	11	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31778571C>T	uc003nxh.2	-	2	1362	c.1179G>A	c.(1177-1179)CTG>CTA	p.L393L	HSPA1L_uc010jte.2_Silent_p.L393L	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	393					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CCAGCAGCAGCAGGTCCTGTA	0.597													T	31778571	C	T	31778571	2	4	270	1	0	0	0	0	0	0	0	1	7410	697	25	2		2	HSPA1L	6	31778571	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	182983	31778571	139336496	457	133957											
SKIV2L	6499	broad.mit.edu	37	chr6	31933609	31933609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtaaacatgcctgctcGtacagtagtgtttgactcca	11	9	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31933609G>A	uc003nyn.1	+	18	2410	c.2021G>A	c.(2020-2022)CGT>CAT	p.R674H	SKIV2L_uc011dou.1_Missense_Mutation_p.R516H|SKIV2L_uc011dov.1_Missense_Mutation_p.R481H	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	674	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ATGCCTGCTCGTACAGTAGTG	0.562													A	31933609	G	A	31933609	3	1	270	1	0	0	0	0	1	0	0	0	14359	1145	40	1	2091	1	SKIV2L	6	31933609	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	155038	31933609	139181458	458	133958											
FKBPL	63943	broad.mit.edu	37	chr6	32096525	32096525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatcagccaaacatcttgcGcagaccctgagccagccctg	8	15	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:32096525G>A	uc003nzr.2	-	2	1303	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	345					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						AACATCTTGCGCAGACCCTGA	0.537													A	32096525	G	A	32096525	3	1	270	1	0	0	0	0	1	0	0	0	5916	1087	38	1	20	1	FKBPL	6	32096525	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	162916	32096525	139018542	459	133959											
COL11A2	1302	broad.mit.edu	37	chr6	33157112	33157112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacctgggaaaagctggcGagtgggtgcactgagctggg	17	8	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33157112G>A	uc003ocx.1	-	2	445	c.217C>T	c.(217-219)CGC>TGC	p.R73C	COL11A2_uc003ocy.1_Missense_Mutation_p.R73C|COL11A2_uc003ocz.1_Missense_Mutation_p.R73C|COL11A2_uc003oda.2_Missense_Mutation_p.R73C	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	73	TSP N-terminal.				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			ovary(3)|skin(2)	5						AAAAGCTGGCGAGTGGGTGCA	0.622													A	33157112	G	A	33157112	3	1	270	1	0	0	0	0	1	0	0	0	3668	1058	37	1	5328	1	COL11A2	6	33157112	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1060587	33157112	137957955	460	133960											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	1	23	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33287900C>T	uc003oec.2	-	5	1557	c.1353G>A	c.(1351-1353)GAG>GAA	p.E451E	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.E376E|DAXX_uc011dre.1_Silent_p.E463E|DAXX_uc003oed.2_Silent_p.E451E	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	451	Asp/Glu-rich (acidic).|Potential.|Necessary for interaction with USP7.				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			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						cttcttcttcctcctcctcct	0.254			Mis|F|N		Pancreatic neuroendocrine tumors								T	33287900	C	T	33287900	2	4	270	1	0	0	0	0	0	0	0	1	4243	680	24	4		4	DAXX	6	33287900	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	130788	33287900	137827167	461	133961											
SYNGAP1	8831	broad.mit.edu	37	chr6	33391326	33391326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctggttggaaccctcGgttctgcatcatctcgggga	12	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33391326G>A	uc011dri.1	+	2	335	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R32Q|SYNGAP1_uc010juy.2_Missense_Mutation_p.R32Q	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	47					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TGGAACCCTCGGTTCTGCATC	0.542													A	33391326	G	A	33391326	3	1	270	1	0	0	0	0	1	0	0	0	15444	1116	39	1	146	1	SYNGAP1	6	33391326	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	103426	33391326	137723741	462	133962											
IP6K3	117283	broad.mit.edu	37	chr6	33694648	33694648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaaggctggagtgttgAggtggggctcggacctcaga	19	7	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33694648A>C	uc010jvf.2	-	5	985	c.449T>G	c.(448-450)CTC>CGC	p.L150R	IP6K3_uc003ofb.2_Missense_Mutation_p.L150R	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	150					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				0						TGGAGTGTTGAGGTGGGGCTC	0.652													C	33694648	A	C	33694648	3	2	270	1	0	0	0	0	1	0	0	0	7790	304	11	5	795	5	IP6K3	6	33694648	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	303322	33694648	137420419	463	133963											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824084	34824084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccagtgggcccagaagCtggtgatggaatttcagagc	16	8	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:34824084C>T	uc003oju.3	+	10	1423	c.1189C>T	c.(1189-1191)CTG>TTG	p.L397L	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	397										ovary(3)	3						GGCCCAGAAGCTGGTGATGGA	0.517													T	34824084	C	T	34824084	2	4	270	1	0	0	0	0	0	0	0	1	16965	796	28	2		2	UHRF1BP1	6	34824084	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1129436	34824084	136290983	464	133964											
FGD2	221472	broad.mit.edu	37	chr6	36995778	36995778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccaggtgactgttgggCcccagggggaccctcgggtc	16	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:36995778C>T	uc010jwp.1	+	16	1978	c.1807C>T	c.(1807-1809)CCC>TCC	p.P603S	FGD2_uc003ong.2_Missense_Mutation_p.P325S|FGD2_uc011dtv.1_Missense_Mutation_p.P231S|FGD2_uc003onj.1_3'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	603	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|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						GACTGTTGGGCCCCAGGGGGA	0.647													T	36995778	C	T	36995778	3	4	270	1	0	0	0	0	1	0	0	0	5833	739	26	2	1869	2	FGD2	6	36995778	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2171694	36995778	134119289	465	133965											
CUL7	9820	broad.mit.edu	37	chr6	43019075	43019075	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagctccagttgacccctCtccccactcaactcctcagg	5	20	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43019075C>A	uc003otq.2	-	4	1167	c.864G>T	c.(862-864)GAG>GAT	p.E288D	CUL7_uc011dvb.1_Missense_Mutation_p.E372D|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	288					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			GTTGACCCCTCTCCCCACTCA	0.602													A	43019075	C	A	43019075	3	1	270	1	0	0	0	0	1	0	0	0	4060	912	32	5	4324	5	CUL7	6	43019075	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6023297	43019075	128095992	466	133966											
CUL9	23113	broad.mit.edu	37	chr6	43152294	43152294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgggctgttaggtgaGcgggcactatctaagggact	15	9	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43152294G>A	uc003ouk.2	+	2	321	c.246G>A	c.(244-246)GAG>GAA	p.E82E	CUL9_uc003ouj.1_Silent_p.E82E|CUL9_uc003oul.2_Silent_p.E82E|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	82					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGTTAGGTGAGCGGGCACTAT	0.567													A	43152294	G	A	43152294	2	1	270	1	0	0	0	0	0	0	0	1	4061	962	34	2		2	CUL9	6	43152294	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	133219	43152294	127962773	467	133967											
TJAP1	93643	broad.mit.edu	37	chr6	43472983	43472983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactgcacttacgctacccGccaggccatttccctgagcc	7	18	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43472983G>A	uc003ovd.2	+	11	1440	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H	TJAP1_uc003ovf.2_Missense_Mutation_p.R345H|TJAP1_uc003ove.2_Missense_Mutation_p.R345H|TJAP1_uc003ovc.2_Missense_Mutation_p.R345H|TJAP1_uc010jyp.2_Missense_Mutation_p.R314H|TJAP1_uc011dvh.1_Missense_Mutation_p.R345H|TJAP1_uc003ovg.2_Missense_Mutation_p.R221H|TJAP1_uc011dvi.1_Missense_Mutation_p.R355H|TJAP1_uc011dvj.1_Missense_Mutation_p.R155H|TJAP1_uc003ovi.2_Missense_Mutation_p.R221H	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	355						Golgi apparatus|tight junction	protein binding				0	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)			TACGCTACCCGCCAGGCCATT	0.438													A	43472983	G	A	43472983	3	1	270	1	0	0	0	0	1	0	0	0	15925	1087	38	1	1094	1	TJAP1	6	43472983	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	320689	43472983	127642084	468	133968											
POLH	5429	broad.mit.edu	37	chr6	43565480	43565480	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatggctcgattctcttcagAttgataacctcacctctcca	5	13	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43565480A>T	uc003ovq.3	+	5	842	c.538A>T	c.(538-540)ATT>TTT	p.I180F	POLH_uc010jyu.2_Missense_Mutation_p.I56F|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.I81F	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	180	UmuC.				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(2)	2	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)			TTCTCTTCAGATTGATAACCT	0.408								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum				T	43565480	A	T	43565480	3	4	270	1	0	0	0	0	1	0	0	0	12202	333	12	5	552	5	POLH	6	43565480	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	92497	43565480	127549587	469	133969											
TDRD6	221400	broad.mit.edu	37	chr6	46658575	46658575	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggatgtaaaggcaataCaagctttcaatgaatttata	8	4	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:46658575C>T	uc003oyj.2	+	1	2710	c.2710C>T	c.(2710-2712)CAA>TAA	p.Q904*	TDRD6_uc010jze.2_Nonsense_Mutation_p.Q898*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	904					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AAAGGCAATACAAGCTTTCAA	0.323													T	46658575	C	T	46658575	4	4	270	1	0	0	0	0	0	1	0	0	15731	479	17	4	2712	4	TDRD6	6	46658575	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3093095	46658575	124456492	470	133970											
TFAP2B	7021	broad.mit.edu	37	chr6	50807909	50807909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggattttgggtacatttgCgaaacggagtttcccgccaa	12	8	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:50807909C>T	uc003pag.2	+	6	1147	c.981C>T	c.(979-981)TGC>TGT	p.C327C		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	327					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				0	Lung NSC(77;0.156)					GGTACATTTGCGAAACGGAGT	0.507													T	50807909	C	T	50807909	2	4	270	1	0	0	0	0	0	0	0	1	15785	776	27	1		1	TFAP2B	6	50807909	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4149334	50807909	120307158	471	133971											
EFHC1	114327	broad.mit.edu	37	chr6	52329708	52329708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attagagaacttccctcagtGtgtgctagaaatctctgacc	8	10	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:52329708G>A	uc003pap.3	+	6	1147	c.932G>A	c.(931-933)TGT>TAT	p.C311Y	EFHC1_uc011dwv.1_Missense_Mutation_p.C220Y|EFHC1_uc011dww.1_Missense_Mutation_p.C292Y	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	311	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TTCCCTCAGTGTGTGCTAGAA	0.398													A	52329708	G	A	52329708	3	1	270	1	0	0	0	0	1	0	0	0	4946	1377	48	4	964	4	EFHC1	6	52329708	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1521799	52329708	118785359	472	133972											
BAI3	577	broad.mit.edu	37	chr6	69666043	69666043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgaatgcagagggccatgGgcagaaagcagagagtgcta	15	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:69666043G>T	uc003pev.3	+	7	1771	c.1323G>T	c.(1321-1323)TGG>TGT	p.W441C	BAI3_uc010kak.2_Missense_Mutation_p.W441C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	441	TSP type-1 3.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GAGGGCCATGGGCAGAAAGCA	0.532													T	69666043	G	T	69666043	3	4	270	1	0	0	0	0	1	0	0	0	1300	1241	43	5	1341	5	BAI3	6	69666043	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	17336335	69666043	101449024	473	133973											
RIMS1	22999	broad.mit.edu	37	chr6	72892075	72892075	+	Frame_Shift_Del	DEL	G	G	-													caaagacctcagcgcagcccGtggagggggccgtcgaagaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:72892074_72892074CG>C	uc003pga.3	+	5	977	c.900_900CG>C	c.(898-900)cccfs	p.P300fs	RIMS1_uc011dyb.2_5'UTR|RIMS1_uc003pgc.3_5'UTR|RIMS1_uc003pgb.4_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	300					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	Rab GTPase binding|metal ion 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)				CAGCGCAGCCCGTGGAGGGGG	0.572													-	72892075	G	-	72892075	7	5	270	1	0	1	0	1	0	0	0	0	13367	1145	40	0	923	0	RIMS1	6	72892075	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	3226032	72892075	98222992	474	133974											
RIMS1	22999	broad.mit.edu	37	chr6	73017019	73017019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaagtgcatcgatttaaGcagacaacagggtctggttc	11	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:73017019G>A	uc003pga.2	+	27	3986	c.3909G>A	c.(3907-3909)AAG>AAA	p.K1303K	RIMS1_uc011dyb.1_Silent_p.K700K|RIMS1_uc003pgc.2_Silent_p.K752K|RIMS1_uc010kaq.2_Silent_p.K623K|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Silent_p.K312K|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Silent_p.K369K|RIMS1_uc003pge.2_Silent_p.K343K|RIMS1_uc011dye.1_Silent_p.K109K|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1303					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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCGATTTAAGCAGACAACAG	0.373													A	73017019	G	A	73017019	2	1	270	1	0	0	0	0	0	0	0	1	13367	962	34	2		2	RIMS1	6	73017019	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	124944	73017019	98098048	475	133975											
KCNQ5	56479	broad.mit.edu	37	chr6	73843172	73843172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagttttaaggagcgagtgCgcatggctagccccaggggc	15	9	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:73843172C>T	uc003pgk.2	+	10	1623	c.1276C>T	c.(1276-1278)CGC>TGC	p.R426C	KCNQ5_uc011dyh.1_Missense_Mutation_p.R445C|KCNQ5_uc011dyi.1_Missense_Mutation_p.R436C|KCNQ5_uc010kat.2_Missense_Mutation_p.R417C|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R176C	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	426					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGAGCGAGTGCGCATGGCTAG	0.507													T	73843172	C	T	73843172	3	4	270	1	0	0	0	0	1	0	0	0	8086	768	27	1	1375	1	KCNQ5	6	73843172	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	826153	73843172	97271895	476	133976											
COL12A1	1303	broad.mit.edu	37	chr6	75812406	75812406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccacgaggaccagggggCccctaaaatacacaagagag	11	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:75812406C>T	uc003phs.2	-	56	8488	c.8322G>A	c.(8320-8322)GGG>GGA	p.G2774G	COL12A1_uc003pht.2_Silent_p.G1610G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2774	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			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GACCAGGGGGCCCCTAAAATA	0.498													T	75812406	C	T	75812406	2	4	270	1	0	0	0	0	0	0	0	1	3669	726	26	2		2	COL12A1	6	75812406	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1969234	75812406	95302661	477	133977											
COL12A1	1303	broad.mit.edu	37	chr6	75828810	75828810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcatcctgggaccgacCgtccgtgaccacaaccaaca	8	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:75828810C>T	uc003phs.2	-	46	7469	c.7303G>A	c.(7303-7305)GGT>AGT	p.G2435S	COL12A1_uc003pht.2_Missense_Mutation_p.G1271S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2435	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGGGACCGACCGTCCGTGACC	0.473													T	75828810	C	T	75828810	3	4	270	1	0	0	0	0	1	0	0	0	3669	652	23	1	1972	1	COL12A1	6	75828810	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	16404	75828810	95286257	478	133978											
COL12A1	1303	broad.mit.edu	37	chr6	75841699	75841699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggagaatacacaacgCgatattgcagcacaggtcct	9	12	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:75841699C>T	uc003phs.2	-	35	6060	c.5894G>A	c.(5893-5895)CGC>CAC	p.R1965H	COL12A1_uc003pht.2_Missense_Mutation_p.R801H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1965	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATACACAACGCGATATTGCAG	0.468													T	75841699	C	T	75841699	3	4	270	1	0	0	0	0	1	0	0	0	3669	768	27	1	3425	1	COL12A1	6	75841699	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	12889	75841699	95273368	479	133979											
FILIP1	27145	broad.mit.edu	37	chr6	76024548	76024548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggttaagccaaccagctTgagtctaagttgcctattgt	10	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:76024548T>C	uc003pia.2	-	5	1373	c.1000A>G	c.(1000-1002)AAG>GAG	p.K334E	FILIP1_uc003phy.1_Missense_Mutation_p.K334E|FILIP1_uc003phz.2_Missense_Mutation_p.K235E|FILIP1_uc010kbe.2_Missense_Mutation_p.K337E|FILIP1_uc003pib.1_Missense_Mutation_p.K86E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	334	Potential.									skin(3)|ovary(1)	4						CCAACCAGCTTGAGTCTAAGT	0.418													C	76024548	T	C	76024548	3	2	270	1	0	0	0	0	1	0	0	0	5894	1821	63	3	2649	3	FILIP1	6	76024548	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	182849	76024548	95090519	480	133980											
HTR1B	3351	broad.mit.edu	37	chr6	78172722	78172722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcaggatggaggcagtGcaacaagtgatgtccgacga	16	7	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:78172722G>A	uc003pil.1	-	1	399	c.399C>T	c.(397-399)TGC>TGT	p.C133C		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	133	Helical; Name=3; (By similarity).				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				0		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)	TGGAGGCAGTGCAACAAGTGA	0.607													A	78172722	G	A	78172722	2	1	270	1	0	0	0	0	0	0	0	1	7437	1311	46	2		2	HTR1B	6	78172722	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2148174	78172722	92942345	481	133981											
IRAK1BP1	134728	broad.mit.edu	37	chr6	79607819	79607819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgagaatgcgtggcGcaaagctcaagaagtctgta	13	7	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:79607819G>A	uc003pim.2	+	4	656	c.551G>A	c.(550-552)CGC>CAC	p.R184H	IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Missense_Mutation_p.R97H	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	184					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AATGCGTGGCGCAAAGCTCAA	0.388													A	79607819	G	A	79607819	3	1	270	1	0	0	0	0	1	0	0	0	7822	1087	38	1	565	1	IRAK1BP1	6	79607819	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1435097	79607819	91507248	482	133982											
PRSS35	167681	broad.mit.edu	37	chr6	84233542	84233542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagacaggtgtatggcaccGacagcaggttcagcatcttg	13	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:84233542G>A	uc003pjz.2	+	2	545	c.382G>A	c.(382-384)GAC>AAC	p.D128N	PRSS35_uc010kbm.2_Missense_Mutation_p.D128N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		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)		GTATGGCACCGACAGCAGGTT	0.463													A	84233542	G	A	84233542	3	1	270	1	0	0	0	0	1	0	0	0	12624	1058	37	1	384	1	PRSS35	6	84233542	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4625723	84233542	86881525	483	133983											
KIAA1009	22832	broad.mit.edu	37	chr6	84896233	84896234	+	Frame_Shift_Ins	INS	-	-	A													cattctcatcatttttgtcaINSaaaaaaaggttcacatgttg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:84896232_84896233C>CA	uc010kbp.3	-	11	1315_1316	c.1218_1219G>TG	c.(1216-1221)tttgacfs	p.F406fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.F330fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.F406fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	406					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)		TCATTTTTGTCAAAAAAAAGGT	0.356													A	84896234	-	A	84896233	7	5	270	1	0	1	1	0	0	0	0	0	8203	127	5	0	3057	0	KIAA1009	6	84896233	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	662691	84896233	86218834	484	133984											
TBX18	9096	broad.mit.edu	37	chr6	85446891	85446891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggggcaaaggtctcacCagcctggttggtgagcctgt	17	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:85446891C>T	uc003pkl.1	-	8	1336	c.1336G>A	c.(1336-1338)GGT>AGT	p.G446S	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	446					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		AAGGTCTCACCAGCCTGGTTG	0.607													T	85446891	C	T	85446891	3	4	270	1	0	0	0	0	1	0	0	0	15650	594	21	4	491	4	TBX18	6	85446891	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	550658	85446891	85668176	485	133985											
MAP3K7	6885	broad.mit.edu	37	chr6	91254334	91254334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagttttacggtggccccGtttaggcttggaataggctg	14	8	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:91254334G>A	uc003pnz.1	-	12	1390	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	MAP3K7_uc003poa.1_Missense_Mutation_p.R410W|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	410					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|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		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)		CGGTGGCCCCGTTTAGGCTTG	0.408													A	91254334	G	A	91254334	3	1	270	1	0	0	0	0	1	0	0	0	9255	1144	40	1	616	1	MAP3K7	6	91254334	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5807443	91254334	79860733	486	133986											
MANEA	79694	broad.mit.edu	37	chr6	96034845	96034845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcacatgagacaaatgcGctcagcttcaattggtaatt	7	9	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:96034845G>A	uc003poo.1	+	2	670	c.530G>A	c.(529-531)CGC>CAC	p.R177H	MANEA_uc003pon.2_Missense_Mutation_p.R177H	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	177	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		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)		AGACAAATGCGCTCAGCTTCA	0.294													A	96034845	G	A	96034845	3	1	270	1	0	0	0	0	1	0	0	0	9221	1087	38	1	532	1	MANEA	6	96034845	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4780511	96034845	75080222	487	133987											
FIG4	9896	broad.mit.edu	37	chr6	110146440	110146440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggactcctccatgtaccGagagtacatcaggaaccgct	10	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:110146440G>A	uc003ptt.2	+	23	2911	c.2696G>A	c.(2695-2697)CGA>CAA	p.R899Q	FIG4_uc011eau.1_Missense_Mutation_p.R593Q	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	899					cell death	endosome membrane	protein binding			ovary(1)	1		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)		TCCATGTACCGAGAGTACATC	0.498													A	110146440	G	A	110146440	3	1	270	1	0	0	0	0	1	0	0	0	5888	1058	37	1	2786	1	FIG4	6	110146440	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	14111595	110146440	60968627	488	133988											
SLC22A16	85413	broad.mit.edu	37	chr6	110752462	110752462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccatgctgccgcttcccAcagccagcgatctggaaaca	8	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:110752462A>G	uc003puf.2	-	7	1500	c.1433T>C	c.(1432-1434)GTG>GCG	p.V478A	SLC22A16_uc003pue.2_Missense_Mutation_p.V459A	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	478	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		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)		GCCGCTTCCCACAGCCAGCGA	0.577													G	110752462	A	G	110752462	3	3	270	1	0	0	0	0	1	0	0	0	14447	159	6	3	308	3	SLC22A16	6	110752462	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	606022	110752462	60362605	489	133989											
REV3L	5980	broad.mit.edu	37	chr6	111650820	111650820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaagtcccaactgacgcGcatcaagcattcgtgacagg	10	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:111650820G>A	uc003puy.3	-	25	8479	c.8156C>T	c.(8155-8157)GCG>GTG	p.A2719V	REV3L_uc003pux.3_Missense_Mutation_p.A2641V|REV3L_uc003puz.3_Missense_Mutation_p.A2641V|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2719					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CAACTGACGCGCATCAAGCAT	0.408								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111650820	G	A	111650820	3	1	270	1	0	0	0	0	1	0	0	0	13240	1087	38	1	1268	1	REV3L	6	111650820	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	898358	111650820	59464247	490	133990											
FAM26E	254228	broad.mit.edu	37	chr6	116836936	116836936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactatgccaacaagctgagCgagaggaacctgaaatgttt	11	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:116836936C>T	uc003pwy.2	+	2	766	c.714C>T	c.(712-714)AGC>AGT	p.S238S	BET3L_uc011ebh.1_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	hypothetical protein LOC254228	238						integral to membrane					0		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		ACAAGCTGAGCGAGAGGAACC	0.448													T	116836936	C	T	116836936	2	4	270	1	0	0	0	0	0	0	0	1	5550	767	27	1		1	FAM26E	6	116836936	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5186116	116836936	54278131	491	133991											
RWDD1	51389	broad.mit.edu	37	chr6	116912077	116912077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactatttgaaacagatcatAatcttgacacatctgatatc	4	8	3	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:116912077A>G	uc003pxd.2	+	6	737	c.574A>G	c.(574-576)AAT>GAT	p.N192D	RWDD1_uc003pxb.2_Missense_Mutation_p.N96D|RWDD1_uc003pxc.2_Missense_Mutation_p.N96D	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN	RWD domain containing 1 isoform a	192	Interaction with DRG2 (By similarity).						protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AACAGATCATAATCTTGACAC	0.244													G	116912077	A	G	116912077	3	3	270	1	0	0	0	0	1	0	0	0	13754	362	13	3	596	3	RWDD1	6	116912077	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	75141	116912077	54202990	492	133992											
KPNA5	3841	broad.mit.edu	37	chr6	117023264	117023264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgaaactggggctgttcCgatttttatcaaacttctta	8	7	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:117023264C>T	uc003pxh.2	+	6	649	c.518C>T	c.(517-519)CCG>CTG	p.P173L		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	170	ARM 3.|NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GGGGCTGTTCCGATTTTTATC	0.333													T	117023264	C	T	117023264	3	4	270	1	0	0	0	0	1	0	0	0	8433	652	23	1	540	1	KPNA5	6	117023264	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	111187	117023264	54091803	493	133993											
C6orf174	387104	broad.mit.edu	37	chr6	127796917	127796917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccgcgtcgctctcggcgtCgctgtcgcgggggctgccgc	17	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:127796917C>T	uc003qbd.2	-	6	3119	c.2254G>A	c.(2254-2256)GAC>AAC	p.D752N	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	752						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTCTCGGCGTCGCTGTCGCGG	0.692													T	127796917	C	T	127796917	3	4	270	1	0	0	0	0	1	0	0	0	2345	884	31	1	597	1	C6orf174	6	127796917	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	10773653	127796917	43318150	494	133994											
PTPRK	5796	broad.mit.edu	37	chr6	128505668	128505668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaactcggatctcatattcGgtatctggatctaaatgcca	8	9	3	1	rs61757809	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:128505668G>A	uc003qbk.2	-	7	1438	c.1071C>T	c.(1069-1071)ACC>ACT	p.T357T	PTPRK_uc003qbj.2_Silent_p.T357T|PTPRK_uc010kfc.2_Silent_p.T357T|PTPRK_uc011ebu.1_Silent_p.T357T|PTPRK_uc003qbl.1_Silent_p.T227T|PTPRK_uc011ebv.1_Silent_p.T357T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	357	Fibronectin type-III 1.|Extracellular (Potential).				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			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTCATATTCGGTATCTGGAT	0.458													A	128505668	G	A	128505668	2	1	270	1	0	0	0	0	0	0	0	1	12805	1103	39	1		1	PTPRK	6	128505668	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	708751	128505668	42609399	495	133995											
ARHGAP18	93663	broad.mit.edu	37	chr6	129901238	129901239	+	Frame_Shift_Ins	INS	-	-	A													atttcctccaatttcatacaINSaaaaaacttctcctttcttg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:129901237_129901238C>CA	uc003qbr.3	-	13	1966_1967	c.1877_1878G>TG	c.(1876-1878)ttgfs	p.L626fs	ARHGAP18_uc011ebw.2_Frame_Shift_Ins_p.F584fs	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CAATTTCATACAAAAAAACTTC	0.342													A	129901239	-	A	129901238	7	5	270	1	0	1	1	0	0	0	0	0	868	131	5	0	122	0	ARHGAP18	6	129901238	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1395570	129901238	41213829	496	133996											
TAAR2	9287	broad.mit.edu	37	chr6	132938520	132938520	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgaagaaacaaggaaaCcaacataataagaaaactcc	6	7	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:132938520C>T	uc003qdl.1	-	2	825	c.825G>A	c.(823-825)TGG>TGA	p.W275*	TAAR2_uc010kfr.1_Nonsense_Mutation_p.W230*	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	275	Helical; Name=6; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AACAAGGAAACCAACATAATA	0.333													T	132938520	C	T	132938520	4	4	270	1	0	0	0	0	0	1	0	0	15487	508	18	4	234	4	TAAR2	6	132938520	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3037282	132938520	38176547	497	133997											
TAAR2	9287	broad.mit.edu	37	chr6	132938576	132938576	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttttggcagcttttttgtCtttcttcacttgattatttt	6	6	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:132938576C>T	uc003qdl.1	-	2	769	c.769G>A	c.(769-771)GAC>AAC	p.D257N	TAAR2_uc010kfr.1_Missense_Mutation_p.D212N	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	257	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GCTTTTTTGTCTTTCTTCACT	0.328													T	132938576	C	T	132938576	3	4	270	1	0	0	0	0	1	0	0	0	15487	913	32	4	290	4	TAAR2	6	132938576	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	56	132938576	38176491	498	133998											
EYA4	2070	broad.mit.edu	37	chr6	133849878	133849878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcacaacatgcccttcTggaggatatccagtcactca	7	14	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:133849878T>C	uc003qec.3	+	20	2313	c.1855T>C	c.(1855-1857)TGG>CGG	p.W619R	EYA4_uc011ecq.1_Missense_Mutation_p.W565R|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.W619R|EYA4_uc003qee.3_Missense_Mutation_p.W596R|EYA4_uc011ecs.1_Missense_Mutation_p.W625R|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	619					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			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATGCCCTTCTGGAGGATATC	0.323													C	133849878	T	C	133849878	3	2	270	1	0	0	0	0	1	0	0	0	5331	1580	55	3	2034	3	EYA4	6	133849878	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	911302	133849878	37265189	499	133999											
TNFAIP3	7128	broad.mit.edu	37	chr6	138200310	138200310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtccggagcccctccccGcattcttgccacagagctgg	10	18	1	1	rs140120540		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:138200310G>A	uc003qhr.2	+	7	1794	c.1728G>A	c.(1726-1728)CCG>CCA	p.P576P	TNFAIP3_uc003qhs.2_Silent_p.P576P	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	576	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?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCCCTCCCCGCATTCTTGCC	0.642			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								A	138200310	G	A	138200310	2	1	270	1	0	0	0	0	0	0	0	1	16271	1074	38	1		1	TNFAIP3	6	138200310	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4350432	138200310	32914757	500	134000											
HIVEP2	3097	broad.mit.edu	37	chr6	143091172	143091172	+	Silent	SNP	T	T	C													gccgtctcatcgatatctaaTtcatctgaagattctttgct							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:143091172T>C	uc003qjd.2	-	5	5447	c.4704A>G	c.(4702-4704)GAA>GAG	p.E1568E		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1568	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGATATCTAATTCATCTGAAG	0.537													C	143091172	T	C	143091172	2	2	270	1	0	0	0	0	0	0	0	1	7187	1490	52	3		3	HIVEP2	6	143091172	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4890862	143091172	28023895	501	134001	692	2									
HIVEP2	3097	broad.mit.edu	37	chr6	143091178	143091178	+	Silent	SNP	T	T	C													tcatcgatatctaattcatcTgaagattctttgctttcaga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:143091178T>C	uc003qjd.2	-	5	5441	c.4698A>G	c.(4696-4698)TCA>TCG	p.S1566S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1566	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTAATTCATCTGAAGATTCTT	0.542													C	143091178	T	C	143091178	2	2	270	1	0	0	0	0	0	0	0	1	7187	1567	55	3		3	HIVEP2	6	143091178	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	6	143091178	28023889	502	134002	692	2									
RAET1E	135250	broad.mit.edu	37	chr6	150210638	150210638	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatgattaattactgtccaGgtcatgttcattgcgtcaaa	7	8	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:150210638G>T	uc003qnl.1	-	3	528	c.468C>A	c.(466-468)ACC>ACA	p.T156T	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.T156T|RAET1E_uc003qnk.1_Silent_p.T120T|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	156	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTACTGTCCAGGTCATGTTCA	0.473													T	150210638	G	T	150210638	2	4	270	1	0	0	0	0	0	0	0	1	12999	987	35	5		5	RAET1E	6	150210638	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7119460	150210638	20904429	503	134003											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153326	151153326	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttggaagagaagaagcaaGgagggcccgccattggtatg	15	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:151153326G>T	uc003qny.1	+	16	3391	c.3079G>T	c.(3079-3081)GGA>TGA	p.G1027*	PLEKHG1_uc011eel.1_Nonsense_Mutation_p.G1067*|PLEKHG1_uc011eem.1_Nonsense_Mutation_p.G1086*|PLEKHG1_uc003qnz.2_Nonsense_Mutation_p.G1027*	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1027					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAAGAAGCAAGGAGGGCCCGC	0.512													T	151153326	G	T	151153326	4	4	270	1	0	0	0	0	0	1	0	0	12068	1001	35	5	3133	5	PLEKHG1	6	151153326	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	942688	151153326	19961741	504	134004											
AKAP12	9590	broad.mit.edu	37	chr6	151669964	151669964	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggagacacccgaaataatCgaacagattccttcttcaga	8	10	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:151669964C>T	uc011eep.1	+	4	678	c.438C>T	c.(436-438)ATC>ATT	p.I146I	AKAP12_uc003qoe.2_Silent_p.I146I|AKAP12_uc003qof.2_Silent_p.I48I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.I41I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	146					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCGAAATAATCGAACAGATTC	0.423													T	151669964	C	T	151669964	2	4	270	1	0	0	0	0	0	0	0	1	448	874	31	1		1	AKAP12	6	151669964	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	516638	151669964	19445103	505	134005											
SYNE1	23345	broad.mit.edu	37	chr6	152540258	152540258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttgttgcttcagttgCtctcccagctcatggagaaa	8	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:152540258C>T	uc010kiw.2	-	120	22526	c.21924G>A	c.(21922-21924)GAG>GAA	p.E7308E	SYNE1_uc010kiv.2_Silent_p.E1832E|SYNE1_uc003qos.3_Silent_p.E1832E|SYNE1_uc003qot.3_Silent_p.E7237E|SYNE1_uc003qou.3_Silent_p.E7308E|SYNE1_uc003qor.3_Silent_p.E208E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7308	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTCAGTTGCTCTCCCAGCT	0.478										HNSCC(10;0.0054)			T	152540258	C	T	152540258	2	4	270	1	0	0	0	0	0	0	0	1	15442	796	28	2		2	SYNE1	6	152540258	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	870294	152540258	18574809	506	134006											
SYNE1	23345	broad.mit.edu	37	chr6	152615205	152615206	+	Frame_Shift_Ins	INS	-	-	T													gcggatgtgctggggtgaatINSttttgcagcatctgtctgca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:152615204_152615205A>AT	uc021zhb.1	-	91	17963_17964	c.17740_17741T>AT	c.(17740-17742)attfs	p.I5914fs	SYNE1_uc003qos.4_Frame_Shift_Ins_p.I438fs|SYNE1_uc003qot.4_Frame_Shift_Ins_p.I5843fs|SYNE1_uc003qou.4_Frame_Shift_Ins_p.I5914fs|SYNE1_uc010kiy.1_Frame_Shift_Ins_p.I89fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5914					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GCTGGGGTGAATTTTTGCAGCA	0.465										HNSCC(10;0.0054)			T	152615206	-	T	152615205	7	5	270	1	0	1	1	0	0	0	0	0	15442	1493	52	0	8938	0	SYNE1	6	152615205	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	74947	152615205	18499862	507	134007											
RGS17	26575	broad.mit.edu	37	chr6	153347651	153347651	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtcttcccgcattttcCcctctttcttcattcctcac	5	16	5	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:153347651C>A	uc003qpm.2	-	3	303	c.147G>T	c.(145-147)GGG>GGT	p.G49G		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	49					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CCGCATTTTCCCCTCTTTCTT	0.388									Lung_Cancer_Familial_Clustering_of				A	153347651	C	A	153347651	2	1	270	1	0	0	0	0	0	0	0	1	13299	610	22	5		5	RGS17	6	153347651	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	732446	153347651	17767416	508	134008											
OPRM1	4988	broad.mit.edu	37	chr6	154412320	154412320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtggctgtgttcatcGtctgctggactcccattcac	12	11	3	0	rs11575856		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:154412320G>A	uc003qpr.2	+	3	1114	c.877G>A	c.(877-879)GTC>ATC	p.V293I	OPRM1_uc011efc.1_Missense_Mutation_p.V212I|OPRM1_uc011efd.1_Missense_Mutation_p.V193I|OPRM1_uc011efe.1_Missense_Mutation_p.V386I|OPRM1_uc003qpn.2_Missense_Mutation_p.V293I|OPRM1_uc003qpo.1_Missense_Mutation_p.V293I|OPRM1_uc011eff.1_Missense_Mutation_p.V293I|OPRM1_uc011efg.1_Missense_Mutation_p.V293I|OPRM1_uc011efh.1_Missense_Mutation_p.V293I|OPRM1_uc003qpq.1_Missense_Mutation_p.V293I|OPRM1_uc003qpt.1_Missense_Mutation_p.V293I|OPRM1_uc011efi.1_Missense_Mutation_p.V293I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.V193I|OPRM1_uc003qpu.2_Missense_Mutation_p.V193I	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	293	Helical; Name=6; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		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)	TGTGTTCATCGTCTGCTGGAC	0.498													A	154412320	G	A	154412320	3	1	270	1	0	0	0	0	1	0	0	0	10887	1145	40	1	1221	1	OPRM1	6	154412320	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1064669	154412320	16702747	509	134009											
CNKSR3	154043	broad.mit.edu	37	chr6	154771281	154771281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcctggtgtccaatcCgtgtgacccccagctcctcc	8	18	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:154771281C>T	uc003qpy.2	-	2	669	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	55	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTGTCCAATCCGTGTGACCCC	0.527													T	154771281	C	T	154771281	3	4	270	1	0	0	0	0	1	0	0	0	3608	652	23	1	1551	1	CNKSR3	6	154771281	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	358961	154771281	16343786	510	134010											
TIAM2	26230	broad.mit.edu	37	chr6	155561732	155561732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacggcatggaaggaccGcgggagaatcaggatcctcc	14	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:155561732G>A	uc003qqb.2	+	18	4510	c.3237G>A	c.(3235-3237)CCG>CCA	p.P1079P	TIAM2_uc003qqe.2_Silent_p.P1079P|TIAM2_uc010kjj.2_Silent_p.P612P|TIAM2_uc003qqf.2_Silent_p.P455P|TIAM2_uc011efl.1_Silent_p.P415P|TIAM2_uc003qqg.2_Silent_p.P391P|TIAM2_uc003qqh.2_Silent_p.P4P	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1079					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			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGAAGGACCGCGGGAGAATC	0.557													A	155561732	G	A	155561732	2	1	270	1	0	0	0	0	0	0	0	1	15888	1074	38	1		1	TIAM2	6	155561732	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	790451	155561732	15553335	511	134011											
SYNJ2	8871	broad.mit.edu	37	chr6	158497676	158497676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatttttaaggactttcacGaaggagccattaactttgga	9	6	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:158497676G>A	uc003qqx.1	+	17	2386	c.2311G>A	c.(2311-2313)GAA>AAA	p.E771K	SYNJ2_uc003qqw.1_Missense_Mutation_p.E771K|SYNJ2_uc003qqy.1_Missense_Mutation_p.E484K|SYNJ2_uc003qqz.1_Missense_Mutation_p.E388K|SYNJ2_uc003qra.1_Missense_Mutation_p.E114K	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	771	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGACTTTCACGAAGGAGCCAT	0.463													A	158497676	G	A	158497676	3	1	270	1	0	0	0	0	1	0	0	0	15450	1059	37	1	2377	1	SYNJ2	6	158497676	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2935944	158497676	12617391	512	134012											
KIF25	3834	broad.mit.edu	37	chr6	168439243	168439243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcccgcaggctcattttgGaaaatacctcaagaagccca	7	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:168439243G>A	uc003qwk.1	+	5	590	c.328G>A	c.(328-330)GAA>AAA	p.E110K	KIF25_uc003qwl.1_Missense_Mutation_p.E110K	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	110	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		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)		GCTCATTTTGGAAAATACCTC	0.438													A	168439243	G	A	168439243	3	1	270	1	0	0	0	0	1	0	0	0	8293	1175	41	4	342	4	KIF25	6	168439243	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9941567	168439243	2675824	513	134013											
FAM120B	84498	broad.mit.edu	37	chr6	170632250	170632250	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagattgaatgcagcaacacCctagaagatgagcttgacca	10	9	0	6			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:170632250C>A	uc003qxp.2	+	3	1926	c.1818C>A	c.(1816-1818)ACC>ACA	p.T606T	FAM120B_uc003qxo.1_Silent_p.T606T|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	606					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCAGCAACACCCTAGAAGATG	0.483													A	170632250	C	A	170632250	2	1	270	1	0	0	0	0	0	0	0	1	5417	610	22	5		5	FAM120B	6	170632250	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2193007	170632250	482817	514	134014											
KIAA0415	9907	broad.mit.edu	37	chr7	4821204	4821204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcgccttccaggctggAgaagacatgcgtagacctgc	11	13	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:4821204A>G	uc003sne.2	+	3	268	c.185A>G	c.(184-186)GAG>GGG	p.E62G	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	62					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		TCCAGGCTGGAGAAGACATGC	0.692													G	4821204	A	G	4821204	3	3	270	1	0	0	0	0	1	0	0	0	8175	304	11	3	195	3	KIAA0415	7	4821204	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08		4821204	154317459	515	134015											
KIAA0415	9907	broad.mit.edu	37	chr7	4830319	4830319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctaggtgtgggccatcggcGagtacctgtcggtgacctac	14	12	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:4830319G>A	uc003sne.2	+	16	2037	c.1954G>A	c.(1954-1956)GAG>AAG	p.E652K	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.E129K	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	652					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		GGCCATCGGCGAGTACCTGTC	0.652													A	4830319	G	A	4830319	3	1	270	1	0	0	0	0	1	0	0	0	8175	1059	37	1	2016	1	KIAA0415	7	4830319	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9115	4830319	154308344	516	134016											
WIPI2	26100	broad.mit.edu	37	chr7	5257644	5257644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgccacggcttcggagaAggtgagtctgcttttccccg	12	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:5257644A>C	uc003snv.2	+	7	884	c.668A>C	c.(667-669)AAG>ACG	p.K223T	WIPI2_uc003snw.2_Missense_Mutation_p.K223T|WIPI2_uc003snx.2_Missense_Mutation_p.K205T|WIPI2_uc003sny.2_Missense_Mutation_p.K205T|WIPI2_uc010ksv.2_Missense_Mutation_p.K79T|WIPI2_uc003snz.2_3'UTR|WIPI2_uc003soa.2_Missense_Mutation_p.K164T	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	223	WD 1.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCTTCGGAGAAGGTGAGTCTG	0.527													C	5257644	A	C	5257644	3	2	270	1	0	0	0	0	1	0	0	0	17368	86	3	5	728	5	WIPI2	7	5257644	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	427325	5257644	153881019	517	134017											
IGF2BP3	10643	broad.mit.edu	37	chr7	23385595	23385596	+	Frame_Shift_Ins	INS	-	-	T													agtgtctgtgtcttgctcaaINStttttttaagatttcttcct							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:23385595_23385596insT	uc003swg.2	-	8	1170_1171	c.904_905insA	c.(904-906)ATTfs	p.I302fs	IGF2BP3_uc003swf.2_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	302	KH 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			ovary(2)	2						GTCTTGCTCAATTTTTTTAAGA	0.351													T	23385596	-	T	23385595	7	5	270	1	0	1	1	0	0	0	0	0	7575	101	4	0	866	0	IGF2BP3	7	23385595	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	18127951	23385595	135753068	518	134018	693	2									
IGF2BP3	10643	broad.mit.edu	37	chr7	23385596	23385597	+	Frame_Shift_Ins	INS	-	-	T													gtgtctgtgtcttgctcaatINSttttttaagatttcttcctt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:23385595_23385596A>AT	uc003swg.3	-	7	1170_1171	c.904_905T>AT	c.(904-906)attfs	p.I302fs	IGF2BP3_uc003swf.3_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	302	KH 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						GTCTTGCTCAATTTTTTTAAGA	0.351													T	23385597	-	T	23385596	7	5	270	1	0	1	1	0	0	0	0	0	7575	1493	52	0	867	0	IGF2BP3	7	23385596	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1	23385596	135753067	519	134019	693	2									
HOXA10	3206	broad.mit.edu	37	chr7	27213837	27213837	+	Frame_Shift_Del	DEL	A	A	-													agctgatgagcgagtcgaccAaaaaagagttcgcggcgggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:27213836_27213836CA>C	uc011jzm.2	-	0	120	c.90_90TG>G	c.(88-90)ttgfs	p.L30fs	HOXA9_uc022aar.1_Intron|HOXA10_uc003syw.4_Intron	NM_018951	NP_061824	P31260	HXA10_HUMAN	Homo sapiens homeobox A10 (HOXA10), transcript variant 1, mRNA.	30					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GCGAGTCGACCAAAAAAGAGT	0.632													-	27213837	A	-	27213837	7	5	270	1	0	1	0	1	0	0	0	0	7289	131	5	0	1151	0	HOXA10	7	27213837	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	3828241	27213837	131924826	520	134020											
GHRHR	2692	broad.mit.edu	37	chr7	31013693	31013693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctacctgaactgcctcCtggcctccacctcccccagc	6	22	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:31013693C>A	uc003tbx.2	+	7	739	c.691C>A	c.(691-693)CTG>ATG	p.L231M	GHRHR_uc003tbw.1_Missense_Mutation_p.L231M|GHRHR_uc003tby.2_Missense_Mutation_p.L167M|GHRHR_uc003tbz.2_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	231	Cytoplasmic (Potential).				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			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	GAACTGCCTCCTGGCCTCCAC	0.622													A	31013693	C	A	31013693	3	1	270	1	0	0	0	0	1	0	0	0	6373	680	24	5	717	5	GHRHR	7	31013693	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3799856	31013693	128124970	521	134021											
PDE1C	5137	broad.mit.edu	37	chr7	31887708	31887708	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatacagaatagctggatcaGacctgaacagaaagccaagc	9	9	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:31887708G>A	uc003tcm.1	-	9	1323	c.854C>T	c.(853-855)TCT>TTT	p.S285F	PDE1C_uc003tcn.1_Missense_Mutation_p.S285F|PDE1C_uc003tco.1_Missense_Mutation_p.S345F|PDE1C_uc003tcr.2_Missense_Mutation_p.S285F|PDE1C_uc003tcs.2_Missense_Mutation_p.S285F	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	285	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			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			AGCTGGATCAGACCTGAACAG	0.388													A	31887708	G	A	31887708	3	1	270	1	0	0	0	0	1	0	0	0	11635	942	33	4	1086	4	PDE1C	7	31887708	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	874015	31887708	127250955	522	134022											
FKBP9	11328	broad.mit.edu	37	chr7	33014897	33014897	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacacctatttcaagcccccGagttgccctcggaccatcca	6	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:33014897G>A	uc003tdh.2	+	3	652	c.471G>A	c.(469-471)CCG>CCA	p.P157P	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.P210P|FKBP9_uc003tdg.2_Silent_p.P157P|FKBP9_uc010kwm.2_Silent_p.P64P	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	157					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			TCAAGCCCCCGAGTTGCCCTC	0.483													A	33014897	G	A	33014897	2	1	270	1	0	0	0	0	0	0	0	1	5915	1045	37	1		1	FKBP9	7	33014897	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1127189	33014897	126123766	523	134023											
GLI3	2737	broad.mit.edu	37	chr7	42005111	42005111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacccaaaggcgcgagtcTgcggcacagcgggccgcggc	16	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:42005111T>C	uc011kbh.1	-	15	3651	c.3560A>G	c.(3559-3561)CAG>CGG	p.Q1187R	GLI3_uc011kbg.1_Missense_Mutation_p.Q1128R	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1187					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGCGCGAGTCTGCGGCACAGC	0.652									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				C	42005111	T	C	42005111	3	2	270	1	0	0	0	0	1	0	0	0	6439	1580	55	3	1186	3	GLI3	7	42005111	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	8990214	42005111	117133552	524	134024											
CAMK2B	816	broad.mit.edu	37	chr7	44302628	44302628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggaatgcttcagaaggcGgcagatccgagcctctctct	12	11	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:44302628G>A	uc003tkq.2	-	3	406	c.196C>T	c.(196-198)CGC>TGC	p.R66C	CAMK2B_uc003tkp.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkx.2_Missense_Mutation_p.R66C|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.R66C|CAMK2B_uc003tks.2_Missense_Mutation_p.R66C|CAMK2B_uc003tku.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkv.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkt.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkw.2_Missense_Mutation_p.R66C|CAMK2B_uc010kyc.2_Missense_Mutation_p.R66C	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	66	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TTCAGAAGGCGGCAGATCCGA	0.612													A	44302628	G	A	44302628	3	1	270	1	0	0	0	0	1	0	0	0	2600	1116	39	1	1891	1	CAMK2B	7	44302628	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2297517	44302628	114836035	525	134025											
IKZF1	10320	broad.mit.edu	37	chr7	50367275	50367275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatactccagatgagggcGatgagcccatgccgatcccc	12	14	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:50367275G>A	uc003tow.3	+	4	250	c.82G>A	c.(82-84)GAT>AAT	p.D28N	IKZF1_uc003tox.3_Missense_Mutation_p.D28N|IKZF1_uc003toy.3_Missense_Mutation_p.D28N|IKZF1_uc011kck.1_Missense_Mutation_p.D28N|IKZF1_uc003toz.3_5'UTR|IKZF1_uc010kyx.2_5'UTR|IKZF1_uc003tov.1_Missense_Mutation_p.D28N	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	28					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(17)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGATGAGGGCGATGAGCCCAT	0.597			D		ALL								A	50367275	G	A	50367275	3	1	270	1	0	0	0	0	1	0	0	0	7614	1058	37	1	88	1	IKZF1	7	50367275	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	6064647	50367275	108771388	526	134026											
NCF1	653361	broad.mit.edu	37	chr7	74197385	74197385	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggggacgtggtggaggtCgtagagaagagcgagagcgg	22	5	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:74197385C>T	uc003ubb.2	+	6	625	c.555C>T	c.(553-555)GTC>GTT	p.V185V	NCF1_uc010lbs.1_Silent_p.V185V|NCF1_uc011kfh.1_Missense_Mutation_p.R105C	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	185	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			skin(1)	1						TGGTGGAGGTCGTAGAGAAGA	0.642													T	74197385	C	T	74197385	2	4	270	1	0	0	0	0	0	0	0	1	10216	871	31	1		1	NCF1	7	74197385	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	23830110	74197385	84941278	527	134027											
WBSCR16	81554	broad.mit.edu	37	chr7	74486480	74486480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttccggctcctgtgaaatCcaagctgagaatctttgttg	9	10	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:74486480C>T	uc003ubr.2	-	2	554	c.428G>A	c.(427-429)GGA>GAA	p.G143E	WBSCR16_uc010lcb.1_Missense_Mutation_p.G143E	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	143	RCC1 1.										0						CCTGTGAAATCCAAGCTGAGA	0.438													T	74486480	C	T	74486480	3	4	270	1	0	0	0	0	1	0	0	0	17260	855	30	4	1006	4	WBSCR16	7	74486480	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	289095	74486480	84652183	528	134028											
HIP1	3092	broad.mit.edu	37	chr7	75167506	75167506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggctctattctttttcgGttaccacttcttgcagtgta	7	9	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:75167506G>A	uc003uds.1	-	31	3142	c.3101C>T	c.(3100-3102)ACC>ATC	p.T1034I	HIP1_uc011kfz.1_Missense_Mutation_p.T860I	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1034					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			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TTCTTTTTCGGTTACCACTTC	0.418			T	PDGFRB	CMML								A	75167506	G	A	75167506	3	1	270	1	0	0	0	0	1	0	0	0	7114	1261	44	4	16	4	HIP1	7	75167506	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	681026	75167506	83971157	529	134029											
RSBN1L	222194	broad.mit.edu	37	chr7	77325880	77325880	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtttggcaagctgcaactcTcctcccgggaccctccgggt	11	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:77325880T>G	uc010ldt.1	+	1	138	c.94T>G	c.(94-96)TCC>GCC	p.S32A	RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	32						nucleus				ovary(1)	1						GCTGCAACTCTCCTCCCGGGA	0.667													G	77325880	T	G	77325880	3	3	270	1	0	0	0	0	1	0	0	0	13697	1551	54	5	96	5	RSBN1L	7	77325880	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2158374	77325880	81812783	530	134030											
SEMA3C	10512	broad.mit.edu	37	chr7	80430101	80430101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaaaatgccatacactaGtgttgtcctcgggttatcag	9	8	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:80430101G>T	uc003uhj.2	-	10	1520	c.958C>A	c.(958-960)CTA>ATA	p.L320I	SEMA3C_uc011kgw.1_Missense_Mutation_p.L338I|SEMA3C_uc011kgx.1_Missense_Mutation_p.L172I	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	320	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						CCATACACTAGTGTTGTCCTC	0.274													T	80430101	G	T	80430101	3	4	270	1	0	0	0	0	1	0	0	0	14026	1020	36	5	1333	5	SEMA3C	7	80430101	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3104221	80430101	78708562	531	134031											
DMTF1	9988	broad.mit.edu	37	chr7	86824094	86824094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacatggctttatccaggCatctgatgttatagatactg	8	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:86824094C>T	uc003uih.2	+	17	2449	c.2123C>T	c.(2122-2124)GCA>GTA	p.A708V	DMTF1_uc003uii.2_Missense_Mutation_p.A442V|DMTF1_uc003uij.2_Missense_Mutation_p.A442V|DMTF1_uc011khb.1_Missense_Mutation_p.A620V|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.A708V|DMTF1_uc003uin.2_Missense_Mutation_p.A442V	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	708	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					TTTATCCAGGCATCTGATGTT	0.343													T	86824094	C	T	86824094	3	4	270	1	0	0	0	0	1	0	0	0	4592	710	25	2	2181	2	DMTF1	7	86824094	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6393993	86824094	72314569	532	134032											
ADAM22	53616	broad.mit.edu	37	chr7	87762257	87762257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgctgaaaggaggaggCgtgaatgaagtaggtgtgaa	17	3	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:87762257C>T	uc003ujn.2	+	12	1147	c.1068C>T	c.(1066-1068)GGC>GGT	p.G356G	ADAM22_uc003ujk.1_Silent_p.G356G|ADAM22_uc003ujl.1_Silent_p.G356G|ADAM22_uc003ujm.2_Silent_p.G356G|ADAM22_uc003ujo.2_Silent_p.G356G|ADAM22_uc003ujp.1_Silent_p.G408G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	356	Peptidase M12B.|Extracellular (Potential).				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			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGAGGAGGCGTGAATGAAG	0.403													T	87762257	C	T	87762257	2	4	270	1	0	0	0	0	0	0	0	1	244	755	27	1		1	ADAM22	7	87762257	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	938163	87762257	71376406	533	134033											
CYP51A1	1595	broad.mit.edu	37	chr7	91763674	91763674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcatcccagccgccgccGccattcactccgtcggaaac	9	19	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:91763674G>A	uc003ulm.3	-	1	167	c.5C>T	c.(4-6)GCG>GTG	p.A2V	CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron|uc003ulo.1_5'Flank	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	Error:Variant_position_missing_in_Q16850_after_alignment					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	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)	AGCCGCCGCCGCCATTCACTC	0.657											OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	91763674	G	A	91763674	3	1	270	1	0	0	0	0	1	0	0	0	4195	1087	38	1	1564	1	CYP51A1	7	91763674	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4001417	91763674	67374989	534	134034											
TFPI2	7980	broad.mit.edu	37	chr7	93519522	93519522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgccctcgcagcccccGtacaggaactggcggcagct	13	16	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:93519522G>A	uc003umy.1	-	2	273	c.198C>T	c.(196-198)TAC>TAT	p.Y66Y	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.Y66Y|TFPI2_uc003una.1_Silent_p.Y55Y|TFPI2_uc003unb.1_Silent_p.Y66Y|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	66	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CGCAGCCCCCGTACAGGAACT	0.602													A	93519522	G	A	93519522	2	1	270	1	0	0	0	0	0	0	0	1	15806	1140	40	1		1	TFPI2	7	93519522	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1755848	93519522	65619141	535	134035											
DLX5	1749	broad.mit.edu	37	chr7	96651532	96651532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccagcgaggcggccagctCggcgcgttccggcaaggcga	16	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:96651532C>T	uc003uon.2	-	2	713	c.505G>A	c.(505-507)GAG>AAG	p.E169K	DLX5_uc011kim.1_Missense_Mutation_p.E169K	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	169	Homeobox.				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			ovary(1)	1	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)					GCGGCCAGCTCGGCGCGTTCC	0.562													T	96651532	C	T	96651532	3	4	270	1	0	0	0	0	1	0	0	0	4574	893	31	1	372	1	DLX5	7	96651532	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3132010	96651532	62487131	536	134036											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97939854	97939854	+	Frame_Shift_Del	DEL	G	G	-													tatgctctgcctgaaggagcGgggggcatctttggtgagca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:97939853_97939853CG>C	uc003upj.3	-	8	1122	c.859_859CG>G	c.(859-861)gctfs	p.A287fs		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	287					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding	p.A287S(2)		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)			CCTGAAGGAGCGGGGGGCATC	0.428													-	97939854	G	-	97939854	7	5	270	1	0	1	0	1	0	0	0	0	1302	1103	39	0	701	0	BAIAP2L1	7	97939854	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	1288322	97939854	61198809	537	134037											
NPTX2	4885	broad.mit.edu	37	chr7	98249051	98249051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggagaggcagcttctgCgcaaggtggcagagctggag	18	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:98249051C>T	uc003upl.2	+	2	700	c.523C>T	c.(523-525)CGC>TGC	p.R175C		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	175					synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	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)			GCAGCTTCTGCGCAAGGTGGC	0.642													T	98249051	C	T	98249051	3	4	270	1	0	0	0	0	1	0	0	0	10603	768	27	1	529	1	NPTX2	7	98249051	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	309197	98249051	60889612	538	134038											
TRRAP	8295	broad.mit.edu	37	chr7	98519385	98519385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattttcaggctctgtggCgcaccttacgcaaccctgct	9	14	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:98519385C>T	uc003upp.2	+	21	2841	c.2632C>T	c.(2632-2634)CGC>TGC	p.R878C	TRRAP_uc011kis.1_Missense_Mutation_p.R878C|TRRAP_uc003upr.2_Missense_Mutation_p.R570C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	878					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			GGCTCTGTGGCGCACCTTACG	0.483													T	98519385	C	T	98519385	3	4	270	1	0	0	0	0	1	0	0	0	16598	768	27	1	2710	1	TRRAP	7	98519385	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	270334	98519385	60619278	539	134039											
TRRAP	8295	broad.mit.edu	37	chr7	98606058	98606058	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggacaacccctcttcActttcccttgtggagatcta	9	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:98606058A>G	uc003upp.2	+	69	10979	c.10770A>G	c.(10768-10770)TCA>TCG	p.S3590S	TRRAP_uc011kis.1_Silent_p.S3561S|TRRAP_uc003upr.2_Silent_p.S3296S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3590	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			ACCCCTCTTCACTTTCCCTTG	0.607													G	98606058	A	G	98606058	2	3	270	1	0	0	0	0	0	0	0	1	16598	146	6	3		3	TRRAP	7	98606058	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	86673	98606058	60532605	540	134040											
ZNF498	221785	broad.mit.edu	37	chr7	99217366	99217366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttttcggctgaggtttcGgcagttccgctaccaggagg	14	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:99217366G>A	uc003url.1	+	4	464	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.R46Q|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	46	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTGAGGTTTCGGCAGTTCCGC	0.592													A	99217366	G	A	99217366	3	1	270	1	0	0	0	0	1	0	0	0	17944	1116	39	1	139	1	ZNF498	7	99217366	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	611308	99217366	59921297	541	134041											
SRRT	51593	broad.mit.edu	37	chr7	100482596	100482596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgacagctttgacgaggGcagcgtgtcagagtctgagt	15	8	2	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:100482596G>A	uc003uwy.2	+	10	1362	c.1094G>A	c.(1093-1095)GGC>GAC	p.G365D	SRRT_uc010lhl.1_Missense_Mutation_p.G365D|SRRT_uc003uxa.2_Missense_Mutation_p.G365D|SRRT_uc003uwz.2_Missense_Mutation_p.G365D	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	365	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TTTGACGAGGGCAGCGTGTCA	0.582													A	100482596	G	A	100482596	3	1	270	1	0	0	0	0	1	0	0	0	15171	1203	42	2	1124	2	SRRT	7	100482596	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1265230	100482596	58656067	542	134042											
MUC17	140453	broad.mit.edu	37	chr7	100674455	100674455	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcatctcccaaggggAcgtcttgaaccgtcagtgcc	13	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:100674455A>G	uc003uxp.1	+	2	190	c.137A>G	c.(136-138)GAC>GGC	p.D46G	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	46	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCAAGGGGACGTCTTGAAC	0.547													G	100674455	A	G	100674455	3	3	270	1	0	0	0	0	1	0	0	0	9974	275	10	3	143	3	MUC17	7	100674455	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	191859	100674455	58464208	543	134043											
CUX1	1523	broad.mit.edu	37	chr7	101839974	101839974	+	Frame_Shift_Del	DEL	C	C	-													gcgcccgggatctttgccggCcccccctccttctcagttgc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:101839973_101839973GC>G	uc003uys.4	+	14	1442	c.1315_1315GC>G	c.(1315-1317)gccfs	p.A439fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Del_p.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		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						ATCTTTGCCGGCCCCCCCTCC	0.562													-	101839974	C	-	101839974	7	5	270	1	0	1	0	1	0	0	0	0	4064	739	26	0	1408	0	CUX1	7	101839974	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1165519	101839974	57298689	544	134044											
RELN	5649	broad.mit.edu	37	chr7	103143664	103143664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattttttcagacaccttaCatccaactgagatctaataa	3	10	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:103143664C>T	uc003vca.2	-	52	8448	c.8288G>A	c.(8287-8289)TGT>TAT	p.C2763Y	RELN_uc010liz.2_Missense_Mutation_p.C2763Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2763					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGACACCTTACATCCAACTGA	0.388													T	103143664	C	T	103143664	3	4	270	1	0	0	0	0	1	0	0	0	13220	478	17	4	2150	4	RELN	7	103143664	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1303690	103143664	55994999	545	134045											
LHFPL3	375612	broad.mit.edu	37	chr7	103969413	103969413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagccctactggataggCgacggcgtggacaccccgca	12	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:103969413C>T	uc003vce.2	+	1	310	c.186C>T	c.(184-186)GGC>GGT	p.G62G	LHFPL3_uc003vcf.2_Silent_p.G62G	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	48						integral to membrane					0						ACTGGATAGGCGACGGCGTGG	0.627													T	103969413	C	T	103969413	2	4	270	1	0	0	0	0	0	0	0	1	8766	755	27	1		1	LHFPL3	7	103969413	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	825749	103969413	55169250	546	134046											
PIK3CG	5294	broad.mit.edu	37	chr7	106508673	106508673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaactgcatcttcatcGtcattcaccgcagcaccacc	4	18	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:106508673G>A	uc003vdv.3	+	2	752	c.667G>A	c.(667-669)GTC>ATC	p.V223I	PIK3CG_uc003vdu.2_Missense_Mutation_p.V223I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V223I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	223					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			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CATCTTCATCGTCATTCACCG	0.592													A	106508673	G	A	106508673	3	1	270	1	0	0	0	0	1	0	0	0	11916	1145	40	1	669	1	PIK3CG	7	106508673	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2539260	106508673	52629990	547	134047											
BCAP29	55973	broad.mit.edu	37	chr7	107258914	107258914	+	Frame_Shift_Del	DEL	T	T	-													gcactatgaccggttcgtaaTttttttaatgccacacatag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:107258913_107258913AT>A	uc011kma.1	+	7	924	c.910_910AT>A	c.(910-912)attfs	p.I304fs	BCAP29_uc003vej.2_3'UTR|BCAP29_uc011kly.1_3'UTR	NM_001008405	NP_001008405	Q9UHQ4	BAP29_HUMAN	Homo sapiens B-cell receptor-associated protein 29 (BCAP29), transcript variant 1, mRNA.	0					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						CCGGTTCGTAATTTTTTTAAT	0.294													-	107258914	T	-	107258914	7	5	270	1	0	1	0	1	0	0	0	0	1346	1493	52	0	941	0	BCAP29	7	107258914	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	750241	107258914	51879749	548	134048											
LAMB1	3912	broad.mit.edu	37	chr7	107580735	107580735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccctcaacaccctcaaCgcagacacactggcccgtgg	9	17	2	1	rs146247883		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:107580735C>T	uc003vew.2	-	25	3795	c.3460G>A	c.(3460-3462)GTT>ATT	p.V1154I	LAMB1_uc003vev.2_Missense_Mutation_p.V1178I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1154	Laminin EGF-like 13.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCCTCAACGCAGACACAC	0.587													T	107580735	C	T	107580735	3	4	270	1	0	0	0	0	1	0	0	0	8610	536	19	1	1940	1	LAMB1	7	107580735	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	321821	107580735	51557928	549	134049											
NRCAM	4897	broad.mit.edu	37	chr7	107824976	107824976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagacagcttcagctgggcTgtggtctgtgttccagaaac	14	9	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:107824976T>G	uc003vfb.2	-	21	2589	c.2118A>C	c.(2116-2118)ACA>ACC	p.T706T	NRCAM_uc003vfc.2_Silent_p.T690T|NRCAM_uc011kmk.1_Silent_p.T701T|NRCAM_uc003vfd.2_Silent_p.T682T|NRCAM_uc003vfe.2_Silent_p.T682T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	706	Fibronectin type-III 1.|Extracellular (Potential).				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			ovary(3)|breast(2)	5						TCAGCTGGGCTGTGGTCTGTG	0.517													G	107824976	T	G	107824976	2	3	270	1	0	0	0	0	0	0	0	1	10644	1567	55	5		5	NRCAM	7	107824976	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	244241	107824976	51313687	550	134050											
DOCK4	9732	broad.mit.edu	37	chr7	111644152	111644152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaatttccaatgacagGccatatggaacggttcctcg	8	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:111644152G>A	uc003vfx.2	-	2	341	c.72C>T	c.(70-72)GGC>GGT	p.G24G	DOCK4_uc003vfy.2_Silent_p.G24G|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.G24G|DOCK4_uc003vgb.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	24	SH3.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CCAATGACAGGCCATATGGAA	0.378													A	111644152	G	A	111644152	2	1	270	1	0	0	0	0	0	0	0	1	4689	1190	42	2		2	DOCK4	7	111644152	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3819176	111644152	47494511	551	134051											
WNT16	51384	broad.mit.edu	37	chr7	120971947	120971947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcctagatttccccatcGgaaacaccacgggcaaagaa	8	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:120971947G>A	uc003vjw.2	+	3	819	c.562G>A	c.(562-564)GGA>AGA	p.G188R	WNT16_uc003vjv.2_Missense_Mutation_p.G178R|WNT16_uc010lkl.2_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	188					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			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					TTTCCCCATCGGAAACACCAC	0.463													A	120971947	G	A	120971947	3	1	270	1	0	0	0	0	1	0	0	0	17382	1117	39	1	641	1	WNT16	7	120971947	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9327795	120971947	38166716	552	134052											
GPR37	2861	broad.mit.edu	37	chr7	124404756	124404756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgggtcacggcccGgggccgccggcaggtcccag	17	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:124404756G>A	uc003vli.2	-	1	926	c.275C>T	c.(274-276)CCG>CTG	p.P92L		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	92	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GTCACGGCCCGGGGCCGCCGG	0.721													A	124404756	G	A	124404756	3	1	270	1	0	0	0	0	1	0	0	0	6691	1116	39	1	1574	1	GPR37	7	124404756	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3432809	124404756	34733907	553	134053											
SND1	27044	broad.mit.edu	37	chr7	127714599	127714599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggccggcaactttatcGgctggctgcacatcgacggt	12	12	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:127714599G>A	uc003vmi.2	+	17	2051	c.1825G>A	c.(1825-1827)GGC>AGC	p.G609S	SND1_uc010lle.2_Missense_Mutation_p.G262S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	609	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			ovary(2)|central_nervous_system(1)	3						CAACTTTATCGGCTGGCTGCA	0.632													A	127714599	G	A	127714599	3	1	270	1	0	0	0	0	1	0	0	0	14844	1116	39	1	1891	1	SND1	7	127714599	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3309843	127714599	31424064	554	134054											
FLNC	2318	broad.mit.edu	37	chr7	128482407	128482407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcctggggaggcgtaaaCgtgcccaagagccccttccg	12	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:128482407C>T	uc003vnz.3	+	14	2453	c.2244C>T	c.(2242-2244)AAC>AAT	p.N748N	FLNC_uc003voa.3_Silent_p.N748N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	748	Filamin 5.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GAGGCGTAAACGTGCCCAAGA	0.657											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128482407	C	T	128482407	2	4	270	1	0	0	0	0	0	0	0	1	5935	535	19	1		1	FLNC	7	128482407	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	767808	128482407	30656256	555	134055											
FLNC	2318	broad.mit.edu	37	chr7	128494150	128494150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggggcggggagacaaagCgcgaggtgcgggtggaggag	24	7	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:128494150C>T	uc003vnz.3	+	40	6816	c.6607C>T	c.(6607-6609)CGC>TGC	p.R2203C	FLNC_uc003voa.3_Missense_Mutation_p.R2170C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2203	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGAGACAAAGCGCGAGGTGCG	0.692													T	128494150	C	T	128494150	3	4	270	1	0	0	0	0	1	0	0	0	5935	768	27	1	6765	1	FLNC	7	128494150	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	11743	128494150	30644513	556	134056											
PLXNA4	91584	broad.mit.edu	37	chr7	131853208	131853208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgttgccacggtcgcGcatggagaagctacgctggg	16	12	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:131853208G>A	uc003vra.3	-	22	4370	c.4141C>T	c.(4141-4143)CGC>TGC	p.R1381C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1381	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CCACGGTCGCGCATGGAGAAG	0.577													A	131853208	G	A	131853208	3	1	270	1	0	0	0	0	1	0	0	0	12122	1087	38	1	1587	1	PLXNA4	7	131853208	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3359058	131853208	27285455	557	134057											
SLC13A4	26266	broad.mit.edu	37	chr7	135366416	135366416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccattactatcaccagTccaataacgttgactcccag	5	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:135366416T>C	uc003vta.2	-	16	2465	c.1776A>G	c.(1774-1776)GGA>GGG	p.G592G	SLC13A4_uc003vtb.2_Silent_p.G593G|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	592	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0						CTATCACCAGTCCAATAACGT	0.552													C	135366416	T	C	135366416	2	2	270	1	0	0	0	0	0	0	0	1	14394	1654	58	3		3	SLC13A4	7	135366416	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3513208	135366416	23772247	558	134058											
CHRM2	1129	broad.mit.edu	37	chr7	136700605	136700605	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcagaattggcaccaagacCccaaaaagtgactcatgtac	7	11	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:136700605C>G	uc003vtf.1	+	4	1616	c.993C>G	c.(991-993)ACC>ACG	p.T331T	CHRM2_uc003vtg.1_Silent_p.T331T|CHRM2_uc003vtj.1_Silent_p.T331T|CHRM2_uc003vtk.1_Silent_p.T331T|CHRM2_uc003vtl.1_Silent_p.T331T|CHRM2_uc003vtm.1_Silent_p.T331T|CHRM2_uc003vti.1_Silent_p.T331T|CHRM2_uc003vto.1_Silent_p.T331T|CHRM2_uc003vtn.1_Silent_p.T331T|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	331	Cytoplasmic (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	GCACCAAGACCCCAAAAAGTG	0.453													G	136700605	C	G	136700605	2	3	270	1	0	0	0	0	0	0	0	1	3377	610	22	5		5	CHRM2	7	136700605	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1334189	136700605	22438058	559	134059											
KIAA1549	57670	broad.mit.edu	37	chr7	138601880	138601880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgtaccagtgggaatgGctttggagaaagaggccagg	15	8	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:138601880G>A	uc011kql.1	-	2	2541	c.2492C>T	c.(2491-2493)GCC>GTC	p.A831V	KIAA1549_uc003vuk.3_Missense_Mutation_p.A781V|KIAA1549_uc011kqj.1_Missense_Mutation_p.A831V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	831						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AGTGGGAATGGCTTTGGAGAA	0.517			O	BRAF	pilocytic astrocytoma								A	138601880	G	A	138601880	3	1	270	1	0	0	0	0	1	0	0	0	8244	1203	42	2	3436	2	KIAA1549	7	138601880	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1901275	138601880	20536783	560	134060											
TAS2R5	54429	broad.mit.edu	37	chr7	141490993	141490993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgatcatggggattcctAgggtgaagcagacttgtcag	13	6	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:141490993A>G	uc003vwr.1	+	1	977	c.832A>G	c.(832-834)AGG>GGG	p.R278G		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	taste receptor T2R5	278	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste		taste receptor activity				0	Melanoma(164;0.0171)					GGGGATTCCTAGGGTGAAGCA	0.493													G	141490993	A	G	141490993	3	3	270	1	0	0	0	0	1	0	0	0	15580	411	15	3	834	3	TAS2R5	7	141490993	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2889113	141490993	17647670	561	134061											
TAS2R38	5726	broad.mit.edu	37	chr7	141673410	141673410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattggtcagaaaccccactGcaaactccaggactgaaatg	8	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:141673410G>T	uc003vwx.1	-	1	164	c.80C>A	c.(79-81)GCA>GAA	p.A27E		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	27	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					AAACCCCACTGCAAACTCCAG	0.463													T	141673410	G	T	141673410	3	4	270	1	0	0	0	0	1	0	0	0	15572	1319	46	5	925	5	TAS2R38	7	141673410	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	182417	141673410	17465253	562	134062											
TRPV6	55503	broad.mit.edu	37	chr7	142575711	142575711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttgcaatcctcatacTtgagcaacttgttcagggcc	8	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:142575711T>C	uc003wbx.1	-	2	413	c.197A>G	c.(196-198)AAG>AGG	p.K66R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	66	ANK 1.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					ATCCTCATACTTGAGCAACTT	0.517													C	142575711	T	C	142575711	3	2	270	1	0	0	0	0	1	0	0	0	16597	1609	56	3	2036	3	TRPV6	7	142575711	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	902301	142575711	16562952	563	134063											
TRPV5	56302	broad.mit.edu	37	chr7	142609851	142609851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaggtggtgaacagtgCcatggggtagtcatagaatt	13	6	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:142609851C>T	uc003wby.1	-	13	1849	c.1585G>A	c.(1585-1587)GCA>ACA	p.A529T		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	529					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GTGAACAGTGCCATGGGGTAG	0.498													T	142609851	C	T	142609851	3	4	270	1	0	0	0	0	1	0	0	0	16596	739	26	2	616	2	TRPV5	7	142609851	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	34140	142609851	16528812	564	134064											
ZYX	7791	broad.mit.edu	37	chr7	143085633	143085633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcgcagccagccgtccGcgctctagggcagctgttcc	14	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:143085633G>A	uc003wcw.2	+	7	1351	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	ZYX_uc011ktd.1_Missense_Mutation_p.R242H|ZYX_uc003wcx.2_Missense_Mutation_p.R399H|ZYX_uc011kte.1_Missense_Mutation_p.R368H|ZYX_uc011ktf.1_Missense_Mutation_p.R242H	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	399	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CCAGCCGTCCGCGCTCTAGGG	0.627													A	143085633	G	A	143085633	3	1	270	1	0	0	0	0	1	0	0	0	18251	1087	38	1	1218	1	ZYX	7	143085633	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	475782	143085633	16053030	565	134065											
CNTNAP2	26047	broad.mit.edu	37	chr7	147815286	147815286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttccaaggggaaactagCgctgacatttctttctactt	7	10	2	1	rs144496909		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:147815286C>T	uc003weu.1	+	16	2976	c.2460C>T	c.(2458-2460)AGC>AGT	p.S820S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	820	Laminin G-like 3.|Extracellular (Potential).				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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			GGGAAACTAGCGCTGACATTT	0.433										HNSCC(39;0.1)			T	147815286	C	T	147815286	2	4	270	1	0	0	0	0	0	0	0	1	3647	767	27	1		1	CNTNAP2	7	147815286	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4729653	147815286	11323377	566	134066											
C7orf33	202865	broad.mit.edu	37	chr7	148311382	148311382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacagtgacaagttcataCctaaacgtaagctccgaagt	9	9	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:148311382C>T	uc003wew.2	+	2	814	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	151										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAAGTTCATACCTAAACGTAA	0.473													T	148311382	C	T	148311382	2	4	270	1	0	0	0	0	0	0	0	1	2388	518	18	4		4	C7orf33	7	148311382	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	496096	148311382	10827281	567	134067											
CUL1	8454	broad.mit.edu	37	chr7	148489851	148489851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggctatcctgcttcagTacaacacggaagatgcctac	9	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:148489851T>C	uc010lpg.2	+	17	2366	c.1840T>C	c.(1840-1842)TAC>CAC	p.Y614H	CUL1_uc003wey.2_Missense_Mutation_p.Y614H|CUL1_uc003wez.2_Missense_Mutation_p.Y504H|CUL1_uc003wfa.2_Missense_Mutation_p.Y275H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	614					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			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCTGCTTCAGTACAACACGGA	0.453													C	148489851	T	C	148489851	3	2	270	1	0	0	0	0	1	0	0	0	4054	1638	57	3	1902	3	CUL1	7	148489851	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	178469	148489851	10648812	568	134068											
PDIA4	9601	broad.mit.edu	37	chr7	148709400	148709400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggagaacgcttgctgaGctccttggcggccttctcat	13	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:148709400G>A	uc003wff.2	-	5	949	c.667C>T	c.(667-669)CTC>TTC	p.L223F		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	223	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGCTTGCTGAGCTCCTTGGCG	0.557													A	148709400	G	A	148709400	3	1	270	1	0	0	0	0	1	0	0	0	11670	971	34	2	1294	2	PDIA4	7	148709400	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	219549	148709400	10429263	569	134069											
SSPO	23145	broad.mit.edu	37	chr7	149515750	149515750	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccccaggtggctgggGcccatggtcctcctggtccc	12	19	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:149515750G>C	uc010lpk.2	+	84	11651	c.11651G>C	c.(11650-11652)GGC>GCC	p.G3884A		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3884	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGGCTGGGGCCCATGGTCC	0.697													C	149515750	G	C	149515750	3	2	270	1	0	0	0	0	1	0	0	0	15188	1203	42	5	11975	5	SSPO	7	149515750	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	806350	149515750	9622913	570	134070											
XRCC2	7516	broad.mit.edu	37	chr7	152345760	152345761	+	Frame_Shift_Ins	INS	-	-	A													ccccactttctccaataataINSaaaaaatgtttttttaaact							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:152345759_152345760T>TA	uc003wld.3	-	2	896_897	c.810_811A>TA	c.(808-813)tttattfs	p.F270fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	270					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TCTCCAATAATAAAAAAATGTT	0.302								Homologous recombination					A	152345761	-	A	152345760	7	5	270	1	0	1	1	0	0	0	0	0	17450	359	13	0	36	0	XRCC2	7	152345760	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	2830010	152345760	6792903	571	134071											
DPP6	1804	broad.mit.edu	37	chr7	154585835	154585835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaccagcaccaaggtcGccgtgacctggctgaaccgg	14	15	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:154585835G>A	uc003wlk.2	+	11	1312	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	DPP6_uc003wli.2_Missense_Mutation_p.A331T|DPP6_uc003wlm.2_Missense_Mutation_p.A333T|DPP6_uc011kvq.1_Missense_Mutation_p.A288T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	395	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			CACCAAGGTCGCCGTGACCTG	0.637													A	154585835	G	A	154585835	3	1	270	1	0	0	0	0	1	0	0	0	4730	1087	38	1	1341	1	DPP6	7	154585835	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2240075	154585835	4552828	572	134072											
NCAPG2	54892	broad.mit.edu	37	chr7	158472698	158472698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcactatccatttcaataGcatgaaggtttggatcccta	6	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:158472698G>A	uc003wnv.1	-	11	1245	c.1100C>T	c.(1099-1101)GCT>GTT	p.A367V	NCAPG2_uc010lqu.1_Missense_Mutation_p.A159V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.A367V|NCAPG2_uc011kwe.1_Missense_Mutation_p.A367V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	367					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	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)		CATTTCAATAGCATGAAGGTT	0.383													A	158472698	G	A	158472698	3	1	270	1	0	0	0	0	1	0	0	0	10208	971	34	2	2403	2	NCAPG2	7	158472698	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3886863	158472698	665965	573	134073											
ESYT2	57488	broad.mit.edu	37	chr7	158534291	158534291	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgaggcgatgctgggggtCggctccttgactgagatgtg	17	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:158534291C>T	uc003wob.1	-	17	2238	c.2172G>A	c.(2170-2172)CCG>CCA	p.P724P	ESYT2_uc003woc.1_Silent_p.P548P|ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Silent_p.P163P|ESYT2_uc003woa.1_Silent_p.P301P	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	752						integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TGCTGGGGGTCGGCTCCTTGA	0.657													T	158534291	C	T	158534291	2	4	270	1	0	0	0	0	0	0	0	1	5265	871	31	1		1	ESYT2	7	158534291	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	61593	158534291	604372	574	134074											
WDR60	55112	broad.mit.edu	37	chr7	158734830	158734830	+	Frame_Shift_Del	DEL	C	C	-													tgtcgccaaacagcaggtctCccccaacaggcaagtgggga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:158734829_158734829TC>T	uc003woe.4	+	23	3150	c.2992_2992TC>T	c.(2992-2994)tccfs	p.S998fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Frame_Shift_Del_p.S630fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	998										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)		ACAGCAGGTCTCCCCCAACAG	0.577													-	158734830	C	-	158734830	7	5	270	1	0	1	0	1	0	0	0	0	17308	855	30	0	3087	0	WDR60	7	158734830	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	200539	158734830	403833	575	134075											
ARHGEF10	9639	broad.mit.edu	37	chr8	1842672	1842672	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccactcgctatttcagatCgcgctggccagccgcgtttc	10	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:1842672C>T	uc003wpr.2	+	13	1552	c.1374C>T	c.(1372-1374)ATC>ATT	p.I458I	ARHGEF10_uc003wpq.1_Silent_p.I483I|ARHGEF10_uc003wps.2_Silent_p.I420I|ARHGEF10_uc003wpt.2_Silent_p.I334I|ARHGEF10_uc003wpv.2_Silent_p.I191I|ARHGEF10_uc010lre.2_Silent_p.I138I	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	483	DH.				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			large_intestine(1)	1		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)		TATTTCAGATCGCGCTGGCCA	0.552													T	1842672	C	T	1842672	2	4	270	1	0	0	0	0	0	0	0	1	894	874	31	1		1	ARHGEF10	8	1842672	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		1842672	144521350	576	134076											
CSMD1	64478	broad.mit.edu	37	chr8	3057289	3057289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccgctctttgcactgaatCggagcagaatttgatttgac	9	10	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:3057289C>T	uc011kwk.1	-	33	5534	c.5144G>A	c.(5143-5145)CGA>CAA	p.R1715Q	CSMD1_uc011kwj.1_Missense_Mutation_p.R1107Q|CSMD1_uc003wqe.2_Missense_Mutation_p.R871Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1715	Extracellular (Potential).|CUB 10.					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)		TGCACTGAATCGGAGCAGAAT	0.512													T	3057289	C	T	3057289	3	4	270	1	0	0	0	0	1	0	0	0	3944	884	31	1	5705	1	CSMD1	8	3057289	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1214617	3057289	143306733	577	134077											
CSMD1	64478	broad.mit.edu	37	chr8	3224726	3224726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgatcagtaaatagtcGtgggaactctcaagatgaaa	10	6	3	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:3224726G>A	uc011kwk.1	-	20	3336	c.2946C>T	c.(2944-2946)CAC>CAT	p.H982H	CSMD1_uc011kwj.1_Silent_p.H374H|CSMD1_uc003wqe.2_Silent_p.H138H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	982	Extracellular (Potential).|CUB 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)		GTAAATAGTCGTGGGAACTCT	0.468													A	3224726	G	A	3224726	2	1	270	1	0	0	0	0	0	0	0	1	3944	1136	40	1		1	CSMD1	8	3224726	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	167437	3224726	143139296	578	134078											
ANGPT2	285	broad.mit.edu	37	chr8	6371335	6371335	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgaaacaaactcatttcccaGccaatattctcctgaagggt	6	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:6371335G>C	uc003wqj.3	-	7	1392	c.1063C>G	c.(1063-1065)CTG>GTG	p.L355V	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.L354V|ANGPT2_uc010lri.2_Missense_Mutation_p.L303V|ANGPT2_uc003wql.3_Missense_Mutation_p.L354V	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	355	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			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCATTTCCCAGCCAATATTCT	0.358													C	6371335	G	C	6371335	3	2	270	1	0	0	0	0	1	0	0	0	611	962	34	5	439	5	ANGPT2	8	6371335	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3146609	6371335	139992687	579	134079											
EFHA2	286097	broad.mit.edu	37	chr8	16884802	16884802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccgctatggctgcgctgcGaaggctcttgtggccgccac	13	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:16884802G>A	uc003wxd.2	+	1	56	c.14G>A	c.(13-15)CGA>CAA	p.R5Q		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	5						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GCTGCGCTGCGAAGGCTCTTG	0.622													A	16884802	G	A	16884802	3	1	270	1	0	0	0	0	1	0	0	0	4944	1058	37	1	16	1	EFHA2	8	16884802	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	10513467	16884802	129479220	580	134080											
EFHA2	286097	broad.mit.edu	37	chr8	16884830	16884830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggccgccaccccgggtGtctcctccactctgcgctca	10	18	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:16884830G>A	uc003wxd.2	+	1	84	c.42G>A	c.(40-42)GTG>GTA	p.V14V		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	14						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CACCCCGGGTGTCTCCTCCAC	0.672													A	16884830	G	A	16884830	2	1	270	1	0	0	0	0	0	0	0	1	4944	1364	48	4		4	EFHA2	8	16884830	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	28	16884830	129479192	581	134081											
PSD3	23362	broad.mit.edu	37	chr8	18393262	18393262	+	Frame_Shift_Del	DEL	T	T	-													gcagatggactctaagtaacTttttgcttaatgcttggtgt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:18393261_18393261CT>C	uc003wza.3	-	15	3239	c.3136_3136AG>G	c.(3136-3138)gttfs	p.V1046fs	PSD3_uc003wyx.4_Frame_Shift_Del_p.V375fs|PSD3_uc003wyy.3_Frame_Shift_Del_p.V512fs|PSD3_uc003wyz.3_Frame_Shift_Del_p.V347fs	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	1047					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)		CTCTAAGTAACTTTTTGCTTA	0.423													-	18393262	T	-	18393262	7	5	270	1	0	1	0	1	0	0	0	0	12648	1606	56	0	12	0	PSD3	8	18393262	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	1508432	18393262	127970760	582	134082											
PSD3	23362	broad.mit.edu	37	chr8	18729874	18729874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctttttccacctgcTgaactgaaaaactagaaaca	5	12	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:18729874T>C	uc003wza.2	-	3	603	c.500A>G	c.(499-501)CAG>CGG	p.Q167R		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	167					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCCACCTGCTGAACTGAAAA	0.433													C	18729874	T	C	18729874	3	2	270	1	0	0	0	0	1	0	0	0	12648	1580	55	3	2735	3	PSD3	8	18729874	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	336612	18729874	127634148	583	134083											
INTS10	55174	broad.mit.edu	37	chr8	19680854	19680854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattaacaaccatgatgttcGattacctgccaatttattgt	5	8	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:19680854G>A	uc003wzj.2	+	6	697	c.566G>A	c.(565-567)CGA>CAA	p.R189Q		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	189					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CATGATGTTCGATTACCTGCC	0.333													A	19680854	G	A	19680854	3	1	270	1	0	0	0	0	1	0	0	0	7776	1058	37	1	588	1	INTS10	8	19680854	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	950980	19680854	126683168	584	134084											
NPM2	10361	broad.mit.edu	37	chr8	21892019	21892019	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacactgttttttggttcccAgaaaaaaaagctggaaaaag	8	6	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:21892019A>G	uc003xab.2	+	7	1190	c.532_splice	c.e7-2	p.K178_splice	NPM2_uc003xac.2_Splice_Site_p.K178_splice|NPM2_uc003xad.2_Splice_Site_p.K178_splice|NPM2_uc003xae.2_Splice_Site_p.K178_splice|NPM2_uc003xaf.2_Splice_Site_p.E122_splice	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	nucleoplasmin 2						chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TTTGGTTCCCAGAAAAAAAAG	0.299													G	21892019	A	G	21892019	5	3	270	1	0	0	0	0	0	0	1	0	10588	202	7	3	552	3	NPM2	8	21892019	Splice_Site	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2211165	21892019	124472003	585	134085											
PPP3CC	5533	broad.mit.edu	37	chr8	22368626	22368626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatattcggaacaggtgtAtgatgcctgtatggagacat	11	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:22368626A>G	uc003xbs.2	+	5	839	c.512A>G	c.(511-513)TAT>TGT	p.Y171C	PPP3CC_uc003xbr.1_Missense_Mutation_p.Y171C|PPP3CC_uc011kzi.1_Missense_Mutation_p.Y171C|PPP3CC_uc003xbt.2_Missense_Mutation_p.Y171C	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	171					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GAACAGGTGTATGATGCCTGT	0.403													G	22368626	A	G	22368626	3	3	270	1	0	0	0	0	1	0	0	0	12399	449	16	3	530	3	PPP3CC	8	22368626	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	476607	22368626	123995396	586	134086											
KIAA1967	57805	broad.mit.edu	37	chr8	22472983	22472983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgggacccccccgGcggcttcagacagtggtggt	15	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:22472983G>A	uc003xch.2	+	12	1388	c.1251G>A	c.(1249-1251)CGG>CGA	p.R417R	KIAA1967_uc003xci.2_Silent_p.R417R|KIAA1967_uc003xcj.1_Silent_p.R86R	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	417					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GACCCCCCCGGCGGCTTCAGA	0.587													A	22472983	G	A	22472983	2	1	270	1	0	0	0	0	0	0	0	1	8265	1190	42	2		2	KIAA1967	8	22472983	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	104357	22472983	123891039	587	134087											
NEFM	4741	broad.mit.edu	37	chr8	24771944	24771944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaaagacatcgaggaggCgtcgctggtcaaggtggagc	17	9	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:24771944C>T	uc003xed.3	+	1	671	c.638C>T	c.(637-639)GCG>GTG	p.A213V	NEFM_uc011lac.1_Missense_Mutation_p.A213V|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.A42T	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	213	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		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)		ATCGAGGAGGCGTCGCTGGTC	0.647													T	24771944	C	T	24771944	3	4	270	1	0	0	0	0	1	0	0	0	10316	768	27	1	640	1	NEFM	8	24771944	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2298961	24771944	121592078	588	134088											
PNMA2	10687	broad.mit.edu	37	chr8	26366267	26366267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctctaacagtgccagcGccattgtcctaagaattgac	8	12	1	2	rs147059463		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:26366267G>A	uc003xez.2	-	3	775	c.5C>T	c.(4-6)GCG>GTG	p.A2V		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	2					apoptosis	nucleolus	protein binding				0		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)		cagtgccagcgccattgtcct	0													A	26366267	G	A	26366267	3	1	270	1	0	0	0	0	1	0	0	0	12154	1087	38	1	1093	1	PNMA2	8	26366267	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1594323	26366267	119997755	589	134089											
EPHX2	2053	broad.mit.edu	37	chr8	27396184	27396184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccttcagagtgttttAtccatgcataaagtctgtga	7	8	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:27396184A>G	uc003xfu.2	+	14	1332	c.1251A>G	c.(1249-1251)TTA>TTG	p.L417L	EPHX2_uc010lut.1_Silent_p.L417L|EPHX2_uc010luu.2_Silent_p.L385L|EPHX2_uc010luv.2_Silent_p.L351L|EPHX2_uc003xfv.2_Silent_p.L364L|EPHX2_uc010luw.2_Silent_p.L351L	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	417	Epoxide hydrolase.				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			ovary(1)	1		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)	AGAGTGTTTTATCCATGCATA	0.403													G	27396184	A	G	27396184	2	3	270	1	0	0	0	0	0	0	0	1	5180	446	16	3		3	EPHX2	8	27396184	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1029917	27396184	118967838	590	134090											
EXTL3	2137	broad.mit.edu	37	chr8	28575348	28575348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcacccagatacctccGcaatttcactctgactgtca	5	17	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:28575348G>A	uc003xgz.1	+	3	2365	c.1772G>A	c.(1771-1773)CGC>CAC	p.R591H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	591	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGATACCTCCGCAATTTCACT	0.602													A	28575348	G	A	28575348	3	1	270	1	0	0	0	0	1	0	0	0	5327	1087	38	1	1774	1	EXTL3	8	28575348	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1179164	28575348	117788674	591	134091											
EXTL3	2137	broad.mit.edu	37	chr8	28575431	28575431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttttcccccacactcccTttgaccctgtgttgccctca	4	18	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:28575431T>G	uc003xgz.1	+	3	2448	c.1855T>G	c.(1855-1857)TTT>GTT	p.F619V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	619	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCACACTCCCTTTGACCCTGT	0.552													G	28575431	T	G	28575431	3	3	270	1	0	0	0	0	1	0	0	0	5327	1609	56	5	1857	5	EXTL3	8	28575431	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	83	28575431	117788591	592	134092											
KIF13B	23303	broad.mit.edu	37	chr8	28974382	28974382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgacacagattctcttgCgtaacaccagttgcatgtca	7	11	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:28974382C>T	uc003xhh.3	-	31	3862	c.3803G>A	c.(3802-3804)CGC>CAC	p.R1268H	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1268					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTCTCTTGCGTAACACCAG	0.592													T	28974382	C	T	28974382	3	4	270	1	0	0	0	0	1	0	0	0	8275	768	27	1	1717	1	KIF13B	8	28974382	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	398951	28974382	117389640	593	134093											
KIF13B	23303	broad.mit.edu	37	chr8	29006250	29006250	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggtcctcatcctctcGttctgctttctttttctttt	4	13	5	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:29006250G>A	uc003xhh.3	-	16	1716	c.1657C>T	c.(1657-1659)CGA>TGA	p.R553*	KIF13B_uc003xhj.2_Nonsense_Mutation_p.R450*|KIF13B_uc010lvf.1_Nonsense_Mutation_p.R489*	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	553					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCATCCTCTCGTTCTGCTTTC	0.393													A	29006250	G	A	29006250	4	1	270	1	0	0	0	0	0	1	0	0	8275	1153	40	1	3923	1	KIF13B	8	29006250	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	31868	29006250	117357772	594	134094											
FUT10	84750	broad.mit.edu	37	chr8	33310939	33310939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagaaatgaattaagatgCgtaggtgcttcctccatttt	8	6	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:33310939C>T	uc003xje.2	-	3	527	c.171G>A	c.(169-171)ACG>ACA	p.T57T	FUT10_uc003xjc.2_Silent_p.T64T|FUT10_uc003xjd.2_Silent_p.T29T|FUT10_uc011lbi.1_Silent_p.T107T|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Silent_p.T29T|FUT10_uc003xjh.2_Silent_p.T57T|FUT10_uc003xji.1_Silent_p.T57T	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	57	Lumenal (Potential).				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			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AATTAAGATGCGTAGGTGCTT	0.418													T	33310939	C	T	33310939	2	4	270	1	0	0	0	0	0	0	0	1	6102	755	27	1		1	FUT10	8	33310939	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4304689	33310939	113053083	595	134095											
PROSC	11212	broad.mit.edu	37	chr8	37633536	37633536	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcggatttccagcatgcggTgagtgtcctgccagtgccct	13	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:37633536T>C	uc003xkh.2	+	7	773	c.696_splice	c.e7+2	p.A232_splice		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog								pyridoxal phosphate binding			central_nervous_system(1)	1		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)	CAGCATGCGGTGAGTGTCCTG	0.572													C	37633536	T	C	37633536	5	2	270	1	0	0	0	0	0	0	1	0	12559	1710	59	3	724	3	PROSC	8	37633536	Splice_Site	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4322597	37633536	108730486	596	134096											
WHSC1L1	54904	broad.mit.edu	37	chr8	38133883	38133883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcttttttgtcacacaTgaccagctctccaccatctc	4	15	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:38133883T>C	uc003xli.2	-	23	4521	c.4003A>G	c.(4003-4005)ATG>GTG	p.M1335V	WHSC1L1_uc011lbm.1_Missense_Mutation_p.M1324V|WHSC1L1_uc010lwe.2_Missense_Mutation_p.M1286V|WHSC1L1_uc003xlh.2_Missense_Mutation_p.M114V	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1335	PHD-type 4; atypical.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			TTGTCACACATGACCAGCTCT	0.433			T	NUP98	AML								C	38133883	T	C	38133883	3	2	270	1	0	0	0	0	1	0	0	0	17360	1464	51	3	318	3	WHSC1L1	8	38133883	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	500347	38133883	108230139	597	134097											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205365	38205365	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatgataatagtcagTggggctaaagtttctaactg	10	5	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:38205365T>C	uc003xli.2	-	2	843	c.325A>G	c.(325-327)ACT>GCT	p.T109A	WHSC1L1_uc011lbm.1_Missense_Mutation_p.T109A|WHSC1L1_uc010lwe.2_Missense_Mutation_p.T109A|WHSC1L1_uc003xlj.2_Missense_Mutation_p.T109A	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	109					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			TAATAGTCAGTGGGGCTAAAG	0.423			T	NUP98	AML								C	38205365	T	C	38205365	3	2	270	1	0	0	0	0	1	0	0	0	17360	1696	59	3	4167	3	WHSC1L1	8	38205365	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	71482	38205365	108158657	598	134098											
MCM4	4173	broad.mit.edu	37	chr8	48878898	48878898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagagcccagtgtgtgCgggcgctgccacaccaccca	12	15	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:48878898C>T	uc003xqk.1	+	9	1079	c.984C>T	c.(982-984)TGC>TGT	p.C328C	MCM4_uc003xql.1_Silent_p.C328C|MCM4_uc011ldi.1_Silent_p.C315C	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	328					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			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAGTGTGTGCGGGCGCTGCC	0.642													T	48878898	C	T	48878898	2	4	270	1	0	0	0	0	0	0	0	1	9389	776	27	1		1	MCM4	8	48878898	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	10673533	48878898	97485124	599	134099											
SNAI2	6591	broad.mit.edu	37	chr8	49832848	49832848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaagatgaggagtatcCggaaagaggagagaggccat	14	8	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:49832848C>T	uc003xqp.2	-	2	396	c.232G>A	c.(232-234)GGA>AGA	p.G78R		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	78					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGGAGTATCCGGAAAGAGGA	0.567													T	49832848	C	T	49832848	3	4	270	1	0	0	0	0	1	0	0	0	14827	661	23	1	582	1	SNAI2	8	49832848	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	953950	49832848	96531174	600	134100											
SNTG1	54212	broad.mit.edu	37	chr8	51465608	51465608	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttgttctgaacatctgcAggcagaatgcctttcaagtc	9	9	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:51465608A>G	uc010lxy.1	+	13	1052	c.681_splice	c.e13-2	p.R227_splice	SNTG1_uc003xqs.1_Splice_Site_p.R227_splice|SNTG1_uc010lxz.1_Splice_Site_p.R227_splice|SNTG1_uc011ldl.1_Splice_Site	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		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)				GAACATCTGCAGGCAGAATGC	0.413													G	51465608	A	G	51465608	5	3	270	1	0	0	0	0	0	0	1	0	14874	202	7	3	717	3	SNTG1	8	51465608	Splice_Site	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1632760	51465608	94898414	601	134101											
RP1	6101	broad.mit.edu	37	chr8	55533898	55533898	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacaaagcccgtcggcgcccGcggccctggctcagcagccg	14	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:55533898G>C	uc003xsd.1	+	2	520	c.372G>C	c.(370-372)CCG>CCC	p.P124P	RP1_uc011ldy.1_Silent_p.P124P	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	124					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			skin(7)|ovary(4)|pancreas(1)	12		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)			GTCGGCGCCCGCGGCCCTGGC	0.711													C	55533898	G	C	55533898	2	2	270	1	0	0	0	0	0	0	0	1	13532	1074	38	5		5	RP1	8	55533898	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4068290	55533898	90830124	602	134102											
RP1	6101	broad.mit.edu	37	chr8	55540617	55540617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacattggtgtcacatcaaaAtgtcagtaatttaagctcct	6	8	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:55540617A>G	uc003xsd.1	+	4	4323	c.4175A>G	c.(4174-4176)AAT>AGT	p.N1392S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1392					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			skin(7)|ovary(4)|pancreas(1)	12		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)			TCACATCAAAATGTCAGTAAT	0.323													G	55540617	A	G	55540617	3	3	270	1	0	0	0	0	1	0	0	0	13532	101	4	3	4185	3	RP1	8	55540617	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	6719	55540617	90823405	603	134103											
XKR4	114786	broad.mit.edu	37	chr8	56015703	56015703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaaggcaagcatctaacGccagcaagagcaacatcgcc	9	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:56015703G>A	uc003xsf.2	+	1	687	c.655G>A	c.(655-657)GCC>ACC	p.A219T		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	219						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCATCTAACGCCAGCAAGAG	0.667													A	56015703	G	A	56015703	3	1	270	1	0	0	0	0	1	0	0	0	17430	1087	38	1	657	1	XKR4	8	56015703	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	475086	56015703	90348319	604	134104											
TMEM68	137695	broad.mit.edu	37	chr8	56675290	56675290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctttcaatacattctTtctcttataaatgtgtaaga	5	7	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:56675290T>C	uc003xsg.1	-	1	298	c.229A>G	c.(229-231)AAG>GAG	p.K77E	TMEM68_uc003xsh.1_Missense_Mutation_p.K77E|TMEM68_uc003xsi.1_Missense_Mutation_p.K77E	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	77						integral to membrane	acyltransferase activity			skin(1)	1			Epithelial(17;0.000361)|all cancers(17;0.00326)			AATACATTCTTTCTCTTATAA	0.358													C	56675290	T	C	56675290	3	2	270	1	0	0	0	0	1	0	0	0	16194	1850	64	3	560	3	TMEM68	8	56675290	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	659587	56675290	89688732	605	134105											
CHD7	55636	broad.mit.edu	37	chr8	61654851	61654851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaaggggctgttaggcCgcaaacccttaactttagtt	9	11	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:61654851C>T	uc003xue.2	+	2	1337	c.860C>T	c.(859-861)CCG>CTG	p.P287L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GCTGTTAGGCCGCAAACCCTT	0.512													T	61654851	C	T	61654851	3	4	270	1	0	0	0	0	1	0	0	0	3330	652	23	1	862	1	CHD7	8	61654851	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4979561	61654851	84709171	606	134106											
MYBL1	4603	broad.mit.edu	37	chr8	67488263	67488263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggagaaaatggtagTgttttcagtggtgtatgttt	14	1	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:67488263T>C	uc003xwj.2	-	10	1856	c.1449A>G	c.(1447-1449)ACA>ACG	p.T483T	MYBL1_uc003xwl.2_Silent_p.T483T|MYBL1_uc003xwk.2_Silent_p.T482T	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	483	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AAAATGGTAGTGTTTTCAGTG	0.393													C	67488263	T	C	67488263	2	2	270	1	0	0	0	0	0	0	0	1	10009	1683	59	3		3	MYBL1	8	67488263	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	5833412	67488263	78875759	607	134107											
MYBL1	4603	broad.mit.edu	37	chr8	67488564	67488564	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgataggagaagcagcaGcatcagaaatatcaaaactg	9	6	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:67488564G>T	uc003xwj.2	-	10	1555	c.1148C>A	c.(1147-1149)GCT>GAT	p.A383D	MYBL1_uc003xwl.2_Missense_Mutation_p.A383D|MYBL1_uc003xwk.2_Missense_Mutation_p.A382D	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	383	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGAAGCAGCAGCATCAGAAAT	0.373													T	67488564	G	T	67488564	3	4	270	1	0	0	0	0	1	0	0	0	10009	971	34	5	1138	5	MYBL1	8	67488564	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	301	67488564	78875458	608	134108											
PREX2	80243	broad.mit.edu	37	chr8	68992720	68992720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgaacccctacttttccGttttttttcggatgaggaaa	8	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:68992720G>A	uc003xxv.1	+	16	1712	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	PREX2_uc003xxu.1_Missense_Mutation_p.R562H|PREX2_uc011lez.1_Missense_Mutation_p.R497H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTACTTTTCCGTTTTTTTTCG	0.328													A	68992720	G	A	68992720	3	1	270	1	0	0	0	0	1	0	0	0	12477	1145	40	1	1747	1	PREX2	8	68992720	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1504156	68992720	77371302	609	134109											
CRISPLD1	83690	broad.mit.edu	37	chr8	75898439	75898439	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccttcataataaattaCgaagtcaggtgtatccaaca	7	8	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:75898439C>T	uc003yan.2	+	2	592	c.217C>T	c.(217-219)CGA>TGA	p.R73*		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	73						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAATAAATTACGAAGTCAGGT	0.398													T	75898439	C	T	75898439	4	4	270	1	0	0	0	0	0	1	0	0	3882	528	19	1	219	1	CRISPLD1	8	75898439	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6905719	75898439	70465583	610	134110											
KIAA1429	25962	broad.mit.edu	37	chr8	95539493	95539493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagctaagtcttcagCagtgtattcaacatcaaagt	7	8	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:95539493C>T	uc003ygo.1	-	8	992	c.979G>A	c.(979-981)GCT>ACT	p.A327T	KIAA1429_uc003ygp.2_Missense_Mutation_p.A327T|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	327					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAGTCTTCAGCAGTGTATTCA	0.383													T	95539493	C	T	95539493	3	4	270	1	0	0	0	0	1	0	0	0	8231	710	25	2	4581	2	KIAA1429	8	95539493	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	19641054	95539493	50824529	611	134111											
CCNE2	9134	broad.mit.edu	37	chr8	95902778	95902778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttcttttgaacatccccaGctatggaaagagaggaaaaa	8	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:95902778G>T	uc003yhc.2	-	6	427	c.318C>A	c.(316-318)AGC>AGA	p.S106R	CCNE2_uc003yhd.2_Missense_Mutation_p.S106R	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	106					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					AACATCCCCAGCTATGGAAAG	0.239													T	95902778	G	T	95902778	3	4	270	1	0	0	0	0	1	0	0	0	2921	985	34	5	924	5	CCNE2	8	95902778	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	363285	95902778	50461244	612	134112											
MATN2	4147	broad.mit.edu	37	chr8	99030292	99030292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtgatgactcatacacGtgcgagtgcttggagggatt	13	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:99030292G>A	uc003yic.2	+	12	1998	c.1767G>A	c.(1765-1767)ACG>ACA	p.T589T	MATN2_uc010mbh.1_Silent_p.T548T|MATN2_uc003yid.2_Silent_p.T589T|MATN2_uc003yie.1_Silent_p.T589T|MATN2_uc010mbi.1_Silent_p.T422T|MATN2_uc010mbj.1_Silent_p.T88T	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	589	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACTCATACACGTGCGAGTGCT	0.498													A	99030292	G	A	99030292	2	1	270	1	0	0	0	0	0	0	0	1	9334	1132	40	1		1	MATN2	8	99030292	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3127514	99030292	47333730	613	134113											
MATN2	4147	broad.mit.edu	37	chr8	99033533	99033533	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagagggatttgttctagcTgaggacggaagacggtgcaa	15	6	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:99033533T>G	uc003yic.2	+	13	2151	c.1920T>G	c.(1918-1920)GCT>GCG	p.A640A	MATN2_uc010mbh.1_Silent_p.A599A|MATN2_uc003yid.2_Silent_p.A640A|MATN2_uc003yie.1_Silent_p.A640A|MATN2_uc010mbi.1_Silent_p.A473A|MATN2_uc010mbj.1_Silent_p.A139A	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	640	EGF-like 10.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TTGTTCTAGCTGAGGACGGAA	0.428													G	99033533	T	G	99033533	2	3	270	1	0	0	0	0	0	0	0	1	9334	1567	55	5		5	MATN2	8	99033533	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3241	99033533	47330489	614	134114											
POP1	10940	broad.mit.edu	37	chr8	99146739	99146739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcttgtctggaaagcGccaagggagccttgtgcttt	12	10	2	0	rs144135573		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:99146739G>A	uc003yij.3	+	7	963	c.863G>A	c.(862-864)CGC>CAC	p.R288H	POP1_uc011lgv.1_Missense_Mutation_p.R288H|POP1_uc003yik.2_Missense_Mutation_p.R288H	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	288					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TCTGGAAAGCGCCAAGGGAGC	0.493													A	99146739	G	A	99146739	3	1	270	1	0	0	0	0	1	0	0	0	12251	1087	38	1	885	1	POP1	8	99146739	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	113206	99146739	47217283	615	134115											
SNX31	169166	broad.mit.edu	37	chr8	101648123	101648123	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaccctgcaaatacatAccattttgcaaatattgttc	3	9	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:101648123A>G	uc003yjr.2	-	3	407	c.256_splice	c.e3+1	p.V86_splice		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31						cell communication|protein transport		phosphatidylinositol binding				0	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)			GCAAATACATACCATTTTGCA	0.269													G	101648123	A	G	101648123	5	3	270	1	0	0	0	0	0	0	1	0	14901	405	14	3	1112	3	SNX31	8	101648123	Splice_Site	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2501384	101648123	44715899	616	134116											
ZFPM2	23414	broad.mit.edu	37	chr8	106811058	106811058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaaagagaagctgctccGgtgtcagaggaaaatgaaga	14	6	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:106811058G>A	uc003ymd.2	+	7	869	c.846G>A	c.(844-846)CCG>CCA	p.P282P	ZFPM2_uc011lhs.1_Silent_p.P13P|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	282					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGCTGCTCCGGTGTCAGAGG	0.517													A	106811058	G	A	106811058	2	1	270	1	0	0	0	0	0	0	0	1	17655	1103	39	1		1	ZFPM2	8	106811058	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5162935	106811058	39552964	617	134117											
TRPS1	7227	broad.mit.edu	37	chr8	116427046	116427046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgaccaggactggctgCtgagcagaatggcttttagt	14	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:116427046C>T	uc003ynz.2	-	6	3510	c.3051G>A	c.(3049-3051)CAG>CAA	p.Q1017Q	TRPS1_uc011lhy.1_Silent_p.Q1021Q|TRPS1_uc003yny.2_Silent_p.Q1030Q|TRPS1_uc010mcy.2_Silent_p.Q1017Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1017	Mediates interaction with RNF4 (By similarity).				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			GGACTGGCTGCTGAGCAGAAT	0.448									Langer-Giedion_syndrome				T	116427046	C	T	116427046	2	4	270	1	0	0	0	0	0	0	0	1	16590	796	28	2		2	TRPS1	8	116427046	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	9615988	116427046	29936976	618	134118											
RAD21	5885	broad.mit.edu	37	chr8	117861199	117861199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatacctgaagaccatgaaGcatctgctgagtccttttgt	8	10	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:117861199G>A	uc003yod.2	-	13	1978	c.1690C>T	c.(1690-1692)CTT>TTT	p.L564F		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	564					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			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGACCATGAAGCATCTGCTGA	0.423													A	117861199	G	A	117861199	3	1	270	1	0	0	0	0	1	0	0	0	12981	971	34	2	213	2	RAD21	8	117861199	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1434153	117861199	28502823	619	134119											
FER1L6	654463	broad.mit.edu	37	chr8	125033884	125033884	+	Frame_Shift_Del	DEL	A	A	-													cgaagcccaaaactttgtggAaaaaatccgctttcttgttg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:125033883_125033883GA>G	uc003yqw.3	+	16	2313	c.2107_2107GA>G	c.(2107-2109)gaafs	p.E703fs	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	703						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)			AAACTTTGTGGAAAAAATCCG	0.418													-	125033884	A	-	125033884	7	5	270	1	0	1	0	1	0	0	0	0	5815	246	9	0	2170	0	FER1L6	8	125033884	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	7172685	125033884	21330138	620	134120											
MTSS1	9788	broad.mit.edu	37	chr8	125565271	125565273	+	In_Frame_Del	DEL	TCT	TCT	-													tgagcgatcgtttgtcgtggTcttcttcagtttcacgcccc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:125565270_125565272GTCT>G	uc003yrl.2	-	14	2775_2777	c.2241_2243AGAC>C	c.(2239-2244)aagacc>aaCc	p.747_748KT>N	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_In_Frame_Del_p.392_393KT>N|MTSS1_uc011lin.1_In_Frame_Del_p.517_518KT>N|MTSS1_uc011lio.1_In_Frame_Del_p.633_634KT>N|MTSS1_uc003yri.2_In_Frame_Del_p.461_462KT>N|MTSS1_uc003yrj.2_In_Frame_Del_p.718_719KT>N|MTSS1_uc003yrk.2_In_Frame_Del_p.743_744KT>N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	743					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor 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)			GTTTGTCGTGGTCTTCTTCAGTT	0.498													-	125565273	TCT	-	125565271	7	5	270	1	0	1	0	1	0	0	0	0	9962	1667	58	0	41	0	MTSS1	8	125565271	In_Frame_Del	DEL	TCT	TCGA-HU-A4GN-01A-11D-A25D-08	531387	125565271	20798751	621	134121											
MTSS1	9788	broad.mit.edu	37	chr8	125565703	125565703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccaatggttccccggcGgacagaaggcttggtggaag	15	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:125565703G>A	uc003yrk.2	-	14	2332	c.1798C>T	c.(1798-1800)CGC>TGC	p.R600C	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.R249C|MTSS1_uc011lin.1_Missense_Mutation_p.R374C|MTSS1_uc011lio.1_Missense_Mutation_p.R490C|MTSS1_uc003yri.2_Missense_Mutation_p.R318C|MTSS1_uc003yrj.2_Missense_Mutation_p.R575C|MTSS1_uc003yrl.2_Missense_Mutation_p.R604C	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	600					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			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTCCCCGGCGGACAGAAGGC	0.637													A	125565703	G	A	125565703	3	1	270	1	0	0	0	0	1	0	0	0	9962	1116	39	1	473	1	MTSS1	8	125565703	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	432	125565703	20798319	622	134122											
ADCY8	114	broad.mit.edu	37	chr8	131916225	131916225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattcctctctttaccatgGccctcttccacgttatagtc	4	15	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:131916225G>A	uc003ytd.3	-	7	1960	c.1704C>T	c.(1702-1704)GGC>GGT	p.G568G	ADCY8_uc010mds.2_Silent_p.G568G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	568	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTTACCATGGCCCTCTTCCA	0.458										HNSCC(32;0.087)			A	131916225	G	A	131916225	2	1	270	1	0	0	0	0	0	0	0	1	300	1190	42	2		2	ADCY8	8	131916225	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	6350522	131916225	14447797	623	134123											
ADCY8	114	broad.mit.edu	37	chr8	132002688	132002688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcctccacacacctcCgagtctccaggaaagcttgg	10	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:132002688C>A	uc003ytd.3	-	2	1317	c.1061G>T	c.(1060-1062)CGG>CTG	p.R354L	ADCY8_uc010mds.2_Missense_Mutation_p.R354L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	354	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACACACCTCCGAGTCTCCAG	0.532										HNSCC(32;0.087)			A	132002688	C	A	132002688	3	1	270	1	0	0	0	0	1	0	0	0	300	652	23	5	2762	5	ADCY8	8	132002688	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	86463	132002688	14361334	624	134124											
PHF20L1	51105	broad.mit.edu	37	chr8	133823330	133823330	+	Frame_Shift_Del	DEL	A	A	-													tgttggggttgatggtgctgAaaaaaaggaagactacaatg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:133823329_133823329GA>G	uc003ytt.3	+	8	1211	c.886_886GA>G	c.(886-888)gaafs	p.E296fs	PHF20L1_uc003ytr.3_Frame_Shift_Del_p.E270fs|PHF20L1_uc010mdv.3_Frame_Shift_Del_p.E270fs|PHF20L1_uc003yts.3_Frame_Shift_Del_p.E296fs|PHF20L1_uc011lja.2_Frame_Shift_Del_p.E270fs|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytv.3_Frame_Shift_Del_p.E135fs	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	296							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)			TGATGGTGCTGAAAAAAAGGA	0.378													-	133823330	A	-	133823330	7	5	270	1	0	1	0	1	0	0	0	0	11832	246	9	0	917	0	PHF20L1	8	133823330	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	1820642	133823330	12540692	625	134125											
PHF20L1	51105	broad.mit.edu	37	chr8	133854799	133854799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatctctgggcttgttcCgggaagcgaaaagaccaaga	11	10	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:133854799C>T	uc003ytt.2	+	19	2752	c.2427C>T	c.(2425-2427)TCC>TCT	p.S809S	PHF20L1_uc011lja.1_Silent_p.S783S	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	809							nucleic acid binding|zinc ion binding			ovary(2)	2	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)			GGGCTTGTTCCGGGAAGCGAA	0.353													T	133854799	C	T	133854799	2	4	270	1	0	0	0	0	0	0	0	1	11832	639	23	1		1	PHF20L1	8	133854799	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	31469	133854799	12509223	626	134126											
ZFAT	57623	broad.mit.edu	37	chr8	135614475	135614475	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttccaggaggcagaagctcTggttgatggaactggtgaag	16	6	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:135614475T>A	uc003yup.2	-	6	1662	c.1487A>T	c.(1486-1488)CAG>CTG	p.Q496L	ZFAT_uc003yun.2_Missense_Mutation_p.Q484L|ZFAT_uc003yuo.2_Missense_Mutation_p.Q484L|ZFAT_uc010meh.2_Missense_Mutation_p.Q484L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.Q484L|ZFAT_uc010mej.2_Missense_Mutation_p.Q434L|ZFAT_uc003yur.2_Missense_Mutation_p.Q484L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			GCAGAAGCTCTGGTTGATGGA	0.597													A	135614475	T	A	135614475	3	1	270	1	0	0	0	0	1	0	0	0	17629	1580	55	5	2288	5	ZFAT	8	135614475	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1759676	135614475	10749547	627	134127											
EIF2C2	27161	broad.mit.edu	37	chr8	141561427	141561427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacttccgtgcactggcGctggggggcgaagcacgcaa	16	11	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:141561427G>A	uc003yvn.2	-	11	1418	c.1378C>T	c.(1378-1380)CGC>TGC	p.R460C	EIF2C2_uc010men.2_Missense_Mutation_p.R383C|EIF2C2_uc010meo.2_Missense_Mutation_p.R460C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	460					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GTGCACTGGCGCTGGGGGGCG	0.642													A	141561427	G	A	141561427	3	1	270	1	0	0	0	0	1	0	0	0	5006	1087	38	1	1237	1	EIF2C2	8	141561427	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5946952	141561427	4802595	628	134128											
SLC45A4	57210	broad.mit.edu	37	chr8	142221613	142221613	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggtcgctgcccaaggacaGggctgccctgggcacaatgt	15	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:142221613G>T	uc003ywd.1	-	8	2633	c.2325C>A	c.(2323-2325)CCC>CCA	p.P775P	SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	Error:Variant_position_missing_in_Q5BKX6_after_alignment					transport	integral to membrane				ovary(2)	2	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)			CCCAAGGACAGGGCTGCCCTG	0.532													T	142221613	G	T	142221613	2	4	270	1	0	0	0	0	0	0	0	1	14643	987	35	5		5	SLC45A4	8	142221613	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	660186	142221613	4142409	629	134129											
LY6D	8581	broad.mit.edu	37	chr8	143866642	143866642	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctggggggaaggtcacaGgctgggggctaagatgacgg	19	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:143866642G>T	uc003yxf.1	-	3	458	c.382C>A	c.(382-384)CTG>ATG	p.L128M		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	128					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	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)					GAAGGTCACAGGCTGGGGGCT	0.677													T	143866642	G	T	143866642	3	4	270	1	0	0	0	0	1	0	0	0	9090	991	35	5	8	5	LY6D	8	143866642	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1645029	143866642	2497380	630	134130											
GLI4	2738	broad.mit.edu	37	chr8	144351661	144351661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaacccagcaccacgagcCtcagcttcacctccatgggc	9	17	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:144351661C>A	uc003yxx.2	+	2	180	c.95C>A	c.(94-96)CCT>CAT	p.P32H	ZFP41_uc003yxv.2_Intron	NM_138465	NP_612474	P10075	GLI4_HUMAN	GLI-Kruppel family member GLI4	32						nucleus	DNA binding|zinc ion binding				0	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)			CACCACGAGCCTCAGCTTCAC	0.637													A	144351661	C	A	144351661	3	1	270	1	0	0	0	0	1	0	0	0	6440	681	24	5	97	5	GLI4	8	144351661	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	485019	144351661	2012361	631	134131											
EEF1D	1936	broad.mit.edu	37	chr8	144663327	144663327	+	Splice_Site	DEL	G	G	-													gctgcagctcctgtaccactGggggggcaaggggagcacgg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:144663326_144663326TG>T	uc003yyq.2	-	5	1767	c.1538_splice	c.e5-1	p.V513_splice	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Splice_Site_p.V439_splice|EEF1D_uc011lki.2_Splice_Site_p.V97_splice|EEF1D_uc003yyv.3_Splice_Site_p.V73_splice|EEF1D_uc003yyu.3_Splice_Site_p.V97_splice|EEF1D_uc011lkk.2_Splice_Site_p.V97_splice|EEF1D_uc003yyt.3_Splice_Site_p.V463_splice|EEF1D_uc003yyr.3_Splice_Site_p.V463_splice|EEF1D_uc003yys.3_Splice_Site_p.V97_splice|EEF1D_uc011lkl.2_Splice_Site_p.V78_splice	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	97					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)			CCTGTACCACTGGGGGGGCAA	0.692													-	144663327	G	-	144663327	8	5	270	1	0	1	0	1	0	0	1	0	4926	1363	47	0		0	EEF1D	8	144663327	Splice_Site	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	311666	144663327	1700695	632	134132											
TSTA3	7264	broad.mit.edu	37	chr8	144695702	144695702	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccagaggatacggtgacttCcccatggaagtccatggcct	12	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:144695702C>A	uc003yza.2	-	9	838	c.802G>T	c.(802-804)GAA>TAA	p.E268*	TSTA3_uc003yzb.2_Nonsense_Mutation_p.E268*	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	268					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACGGTGACTTCCCCATGGAAG	0.687													A	144695702	C	A	144695702	4	1	270	1	0	0	0	0	0	1	0	0	16671	864	30	5	175	5	TSTA3	8	144695702	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	32375	144695702	1668320	633	134133											
DMRT3	58524	broad.mit.edu	37	chr9	990661	990661	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttggctgggcctctgCagccccctttcccccagcca	9	20	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:990661C>T	uc003zgw.1	+	2	1113	c.1075C>T	c.(1075-1077)CAG>TAG	p.Q359*		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	359					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGGGCCTCTGCAGCCCCCTTT	0.582													T	990661	C	T	990661	4	4	270	1	0	0	0	0	0	1	0	0	4587	711	25	2	1081	2	DMRT3	9	990661	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		990661	140222770	634	134134											
SLC24A2	25769	broad.mit.edu	37	chr9	19786766	19786767	+	Frame_Shift_Ins	INS	-	-	T													agactcgaattaacttcagtINStttttcttgacactataatg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:19786765_19786766G>GT	uc003zoa.2	-	0	252_253	c.99_100C>AC	c.(97-102)aaactgfs	p.K33fs	SLC24A2_uc003zob.2_Frame_Shift_Ins_p.K33fs	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	33					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)		ATTAACTTCAGTTTTTTCTTGA	0.436													T	19786767	-	T	19786766	7	5	270	1	0	1	1	0	0	0	0	0	14466	1722	60	0	1926	0	SLC24A2	9	19786766	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	18796105	19786766	121426665	635	134135											
ELAVL2	1993	broad.mit.edu	37	chr9	23762085	23762085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagttcctcctgtgtcaTgttctgaggaaggtagttga	11	7	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:23762085T>C	uc003zpu.2	-	2	423	c.148A>G	c.(148-150)ATG>GTG	p.M50V	ELAVL2_uc003zps.2_Missense_Mutation_p.M50V|ELAVL2_uc003zpt.2_Missense_Mutation_p.M50V|ELAVL2_uc003zpv.2_Missense_Mutation_p.M50V|ELAVL2_uc003zpw.2_Missense_Mutation_p.M50V	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	50	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCCTGTGTCATGTTCTGAGGA	0.418													C	23762085	T	C	23762085	3	2	270	1	0	0	0	0	1	0	0	0	5050	1464	51	3	955	3	ELAVL2	9	23762085	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	3975319	23762085	117451346	636	134136											
TOPORS	10210	broad.mit.edu	37	chr9	32544006	32544006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaatcgtcgatcaggggTgacaaaagaaccattatacg	11	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:32544006T>C	uc003zrb.2	-	3	684	c.517A>G	c.(517-519)ACC>GCC	p.T173A	TOPORS_uc003zrc.2_Missense_Mutation_p.T106A	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	173	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			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGATCAGGGGTGACAAAAGAA	0.438													C	32544006	T	C	32544006	3	2	270	1	0	0	0	0	1	0	0	0	16367	1696	59	3	2624	3	TOPORS	9	32544006	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	8781921	32544006	108669425	637	134137											
FANCG	2189	broad.mit.edu	37	chr9	35077266	35077266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgctagctgaccttggCggtaggcaaatgctgtcagg	15	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35077266C>T	uc003zwb.1	-	5	1133	c.641G>A	c.(640-642)CGC>CAC	p.R214H	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R214H	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	214					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACCTTGGCGGTAGGCAAA	0.517			Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	35077266	C	T	35077266	3	4	270	1	0	0	0	0	1	0	0	0	5668	768	27	1	1267	1	FANCG	9	35077266	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2533260	35077266	106136165	638	134138											
RUSC2	9853	broad.mit.edu	37	chr9	35547551	35547551	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccctgaaagtggaggaAgggaagggggctatggttgc	17	6	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35547551A>C	uc003zww.2	+	2	1288	c.1033A>C	c.(1033-1035)AGG>CGG	p.R345R	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.R345R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	345						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTGGAGGAAGGGAAGGGGG	0.572													C	35547551	A	C	35547551	2	2	270	1	0	0	0	0	0	0	0	1	13751	63	3	5		5	RUSC2	9	35547551	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	470285	35547551	105665880	639	134139											
TESK1	7016	broad.mit.edu	37	chr9	35606843	35606843	+	Frame_Shift_Del	DEL	G	G	-													ctatgcaccagtatatgaatGgggggacattggaacagctg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35606842_35606842TG>T	uc003zxa.3	+	3	735	c.399_399TG>T	c.(397-399)aatfs	p.N133fs	TESK1_uc010mks.3_Frame_Shift_Del_p.M1fs|MIR4667_uc022bgk.1_5'Flank	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	133	Protein kinase.				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)			aGTATATGAATGGGGGGACAT	0.582													-	35606843	G	-	35606843	7	5	270	1	0	1	0	1	0	0	0	0	15764	1348	47	0	414	0	TESK1	9	35606843	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	59292	35606843	105606588	640	134140											
CA9	768	broad.mit.edu	37	chr9	35676071	35676071	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgcagtgcaactgacCctgcctcctgggctagagat	10	15	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35676071C>A	uc003zxo.3	+	4	657	c.615C>A	c.(613-615)ACC>ACA	p.T205T	C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Silent_p.T205T	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	205	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAACTGACCCTGCCTCCTG	0.716													A	35676071	C	A	35676071	2	1	270	1	0	0	0	0	0	0	0	1	2524	610	22	5		5	CA9	9	35676071	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	69228	35676071	105537360	641	134141											
GNE	10020	broad.mit.edu	37	chr9	36217375	36217375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtctagtagatcctgCgtgttgtgtagtccagaacc	13	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:36217375C>T	uc010mlh.2	-	12	2371	c.2156G>A	c.(2155-2157)CGC>CAC	p.R719H	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R645H|GNE_uc011lpl.1_Missense_Mutation_p.R609H|GNE_uc010mli.2_Missense_Mutation_p.R750H|GNE_uc010mlj.2_Missense_Mutation_p.R714H	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	719	UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			GTAGATCCTGCGTGTTGTGTA	0.532													T	36217375	C	T	36217375	3	4	270	1	0	0	0	0	1	0	0	0	6522	768	27	1	16	1	GNE	9	36217375	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	541304	36217375	104996056	642	134142											
POLR1E	64425	broad.mit.edu	37	chr9	37489339	37489339	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaattttgaacaagacCtctggccaaatggaagtata	11	6	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:37489339C>A	uc003zzz.1	+	3	759	c.471C>A	c.(469-471)ACC>ACA	p.T157T	POLR1E_uc011lqj.1_Silent_p.T95T|POLR1E_uc003zzy.1_Silent_p.T95T|POLR1E_uc011lqk.1_5'UTR	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	157					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGAACAAGACCTCTGGCCAAA	0.333													A	37489339	C	A	37489339	2	1	270	1	0	0	0	0	0	0	0	1	12213	668	24	5		5	POLR1E	9	37489339	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1271964	37489339	103724092	643	134143											
C9orf71	169693	broad.mit.edu	37	chr9	71155631	71155631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctcccctgacagtcgaAtatggagccccaggaaatga	11	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:71155631A>G	uc004agt.2	-	1	153	c.100T>C	c.(100-102)TTC>CTC	p.F34L		NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	hypothetical protein LOC169693	34						integral to membrane					0						TGACAGTCGAATATGGAGCCC	0.537													G	71155631	A	G	71155631	3	3	270	1	0	0	0	0	1	0	0	0	2494	101	4	3	420	3	C9orf71	9	71155631	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	33666292	71155631	70057800	644	134144											
PRKACG	5568	broad.mit.edu	37	chr9	71628985	71628987	+	In_Frame_Del	DEL	CTT	CTT	-													ctctcctcctgctcggtgtcCttcttggcgggggcgttgcc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:71628984_71628986CCTT>C	uc004agy.3	-	0	54_56	c.23_25AAGG>G	c.(22-27)aaggac>aGac	p.8_9KD>R		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	8					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						TGCTCGGTGTCCTTCTTGGCGGG	0.704													-	71628987	CTT	-	71628985	7	5	270	1	0	1	0	1	0	0	0	0	12499	680	24	0	1035	0	PRKACG	9	71628985	In_Frame_Del	DEL	CTT	TCGA-HU-A4GN-01A-11D-A25D-08	473354	71628985	69584446	645	134145											
APBA1	320	broad.mit.edu	37	chr9	72067197	72067197	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgctaaatgcctgtccgatGgactgtgcaatcagctgagc	11	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:72067197G>T	uc004ahh.2	-	9	2085	c.1809C>A	c.(1807-1809)TCC>TCA	p.S603S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	603	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CCTGTCCGATGGACTGTGCAA	0.557													T	72067197	G	T	72067197	2	4	270	1	0	0	0	0	0	0	0	1	756	1335	47	5		5	APBA1	9	72067197	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	438212	72067197	69146234	646	134146											
KLF9	687	broad.mit.edu	37	chr9	73002896	73002896	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactttttaaggcagtctggCcacgtgcagggaaagggccg	14	9	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:73002896C>T	uc004aht.2	-	2	1825	c.531G>A	c.(529-531)TGG>TGA	p.W177*		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	177	C2H2-type 2.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGCAGTCTGGCCACGTGCAGG	0.527													T	73002896	C	T	73002896	4	4	270	1	0	0	0	0	0	1	0	0	8353	740	26	2	207	2	KLF9	9	73002896	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	935699	73002896	68210535	647	134147											
PRUNE2	158471	broad.mit.edu	37	chr9	79325430	79325430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctcccacaaaatctgtcAggctcaaatttctttcagag	5	12	6	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:79325430A>G	uc010mpk.2	-	8	1884	c.1760T>C	c.(1759-1761)CTG>CCG	p.L587P		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	587					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AAAATCTGTCAGGCTCAAATT	0.448													G	79325430	A	G	79325430	3	3	270	1	0	0	0	0	1	0	0	0	12641	188	7	3	7554	3	PRUNE2	9	79325430	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	6322534	79325430	61888001	648	134148											
VPS13A	23230	broad.mit.edu	37	chr9	79853105	79853105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttagaaatcatatatgatGcagtaagcatttttttaaat	5	4	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:79853105G>A	uc004akr.2	+	18	2043	c.1783G>A	c.(1783-1785)GCA>ACA	p.A595T	VPS13A_uc004akp.3_Missense_Mutation_p.A595T|VPS13A_uc004akq.3_Missense_Mutation_p.A595T|VPS13A_uc004aks.2_Missense_Mutation_p.A595T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	595					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CATATATGATGCAGTAAGCAT	0.269													A	79853105	G	A	79853105	3	1	270	1	0	0	0	0	1	0	0	0	17186	1319	46	2	1853	2	VPS13A	9	79853105	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	527675	79853105	61360326	649	134149											
ZCCHC6	79670	broad.mit.edu	37	chr9	88937823	88937823	+	Frame_Shift_Del	DEL	A	A	-													gataagtttactgaattcatAaaaaaaatcagactgatcca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:88937822_88937822TA>T	uc004aou.3	-	12	2981	c.2843_2843TA>A	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Del_p.Y948fs|ZCCHC6_uc004aot.3_Frame_Shift_Del_p.Y825fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	948					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|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						ACTGAATTCATAAAAAAAATC	0.333													-	88937823	A	-	88937823	7	5	270	1	0	1	0	1	0	0	0	0	17589	362	13	0	1705	0	ZCCHC6	9	88937823	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	9084718	88937823	52275608	650	134150											
DAPK1	1612	broad.mit.edu	37	chr9	90321730	90321730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgggagcaccatgagccCgtcatgatctaccagccacg	11	15	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:90321730C>T	uc004apc.2	+	26	3882	c.3744C>T	c.(3742-3744)CCC>CCT	p.P1248P	DAPK1_uc004apd.2_Silent_p.P1248P|DAPK1_uc011ltg.1_Silent_p.P1182P|DAPK1_uc011lth.1_Silent_p.P985P|DAPK1_uc004apg.2_Silent_p.P225P	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1248					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						ACCATGAGCCCGTCATGATCT	0.592									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90321730	C	T	90321730	2	4	270	1	0	0	0	0	0	0	0	1	4235	639	23	1		1	DAPK1	9	90321730	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1383907	90321730	50891701	651	134151											
SEMA4D	10507	broad.mit.edu	37	chr9	92003641	92003641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctgcatgtacttcccGtgggagaagacctcctcggc	12	13	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:92003641G>A	uc004aqo.1	-	13	1589	c.1017C>T	c.(1015-1017)CAC>CAT	p.H339H	SEMA4D_uc011ltm.1_Silent_p.H339H|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.H337H	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	339	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						TGTACTTCCCGTGGGAGAAGA	0.642													A	92003641	G	A	92003641	2	1	270	1	0	0	0	0	0	0	0	1	14034	1136	40	1		1	SEMA4D	9	92003641	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1681911	92003641	49209790	652	134152											
ROR2	4920	broad.mit.edu	37	chr9	94493365	94493365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagggcccacggctggCactggtggcctgacttggtg	17	12	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:94493365C>T	uc004arj.1	-	7	1209	c.1010G>A	c.(1009-1011)TGC>TAC	p.C337Y	ROR2_uc004ari.1_Missense_Mutation_p.C197Y|ROR2_uc004ark.2_Missense_Mutation_p.C337Y	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	337	Extracellular (Potential).|Kringle.				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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CCACGGCTGGCACTGGTGGCC	0.607													T	94493365	C	T	94493365	3	4	270	1	0	0	0	0	1	0	0	0	13527	710	25	2	1833	2	ROR2	9	94493365	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2489724	94493365	46720066	653	134153											
ZNF169	169841	broad.mit.edu	37	chr9	97062695	97062695	+	Frame_Shift_Del	DEL	G	G	-													atacaccagaggaagcactcGggggagaagccgtatgtgtg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:97062694_97062694CG>C	uc022bki.1	+	3	912	c.857_857CG>C	c.(856-858)tcgfs	p.S286fs	ZNF169_uc004aum.1_Frame_Shift_Del_p.S285fs	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGGAAGCACTCGGGGGAGAAG	0.567													-	97062695	G	-	97062695	7	5	270	1	0	1	0	1	0	0	0	0	17739	1103	39	0	869	0	ZNF169	9	97062695	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	2569330	97062695	44150736	654	134154											
CDC14B	8555	broad.mit.edu	37	chr9	99284796	99284796	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagactcacgtgagaggAatagcgtttgttttggattg	12	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:99284796A>G	uc004awj.2	-	12	1787	c.1335T>C	c.(1333-1335)ATT>ATC	p.I445I	CDC14B_uc004awk.2_Silent_p.I445I|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.I408I	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	445					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			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				ACGTGAGAGGAATAGCGTTTG	0.428													G	99284796	A	G	99284796	2	3	270	1	0	0	0	0	0	0	0	1	3057	242	9	3		3	CDC14B	9	99284796	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2222101	99284796	41928635	655	134155											
KIAA1529	57653	broad.mit.edu	37	chr9	100057269	100057269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggtgcctaaatcaatcGgcaggtaacggctcctgttt	10	10	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:100057269G>A	uc011lut.1	+	12	1166	c.393G>A	c.(391-393)TCG>TCA	p.S131S	KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Silent_p.S131S|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				taaatcaatcggcaggtaacg	0.358													A	100057269	G	A	100057269	2	1	270	1	0	0	0	0	0	0	0	1	8240	1103	39	1		1	KIAA1529	9	100057269	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	772473	100057269	41156162	656	134156											
KIAA1529	57653	broad.mit.edu	37	chr9	100105645	100105645	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaaggaagagggtctAgaggagatatactatgagga	15	3	1	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:100105645A>G	uc011lut.1	+	31	3620	c.2847A>G	c.(2845-2847)CTA>CTG	p.L949L	KIAA1529_uc004axe.1_Silent_p.L949L|KIAA1529_uc004axg.1_Silent_p.L810L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.L134L|KIAA1529_uc004axf.2_Silent_p.L810L	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AAGAGGGTCTAGAGGAGATAT	0.428													G	100105645	A	G	100105645	2	3	270	1	0	0	0	0	0	0	0	1	8240	407	15	3		3	KIAA1529	9	100105645	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	48376	100105645	41107786	657	134157											
ACTL7B	10880	broad.mit.edu	37	chr9	111617947	111617947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgcgggtgtcgccagcGtcggccgcctcggggcagcg	17	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:111617947G>A	uc004bdi.2	-	1	329	c.264C>T	c.(262-264)GAC>GAT	p.D88D		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	88						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						TGTCGCCAGCGTCGGCCGCCT	0.657													A	111617947	G	A	111617947	2	1	270	1	0	0	0	0	0	0	0	1	201	1136	40	1		1	ACTL7B	9	111617947	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	11512302	111617947	29595484	658	134158											
SVEP1	79987	broad.mit.edu	37	chr9	113190032	113190032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcaataatggaagggccCtgtaagctgcgggaaagaat	12	7	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:113190032C>A	uc010mtz.2	-	36	6151	c.5814G>T	c.(5812-5814)CAG>CAT	p.Q1938H	SVEP1_uc010mty.2_Translation_Start_Site	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1938	Sushi 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGGAAGGGCCCTGTAAGCTGC	0.478											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	113190032	C	A	113190032	3	1	270	1	0	0	0	0	1	0	0	0	15417	680	24	5	4953	5	SVEP1	9	113190032	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1572085	113190032	28023399	659	134159											
PTGR1	22949	broad.mit.edu	37	chr9	114332454	114332454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgacaaaagcttccatgcGaagctcctgatagataacaa	8	10	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:114332454G>A	uc004bfh.2	-	9	899	c.796C>T	c.(796-798)CGC>TGC	p.R266C	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Missense_Mutation_p.R266C|PTGR1_uc004bfi.3_Missense_Mutation_p.R266C|PTGR1_uc004bfj.3_Missense_Mutation_p.R143C|PTGR1_uc010mue.2_Missense_Mutation_p.R266C	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	266					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0						GCTTCCATGCGAAGCTCCTGA	0.532													A	114332454	G	A	114332454	3	1	270	1	0	0	0	0	1	0	0	0	12753	1058	37	1	232	1	PTGR1	9	114332454	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1142422	114332454	26880977	660	134160											
C9orf43	257169	broad.mit.edu	37	chr9	116187657	116187657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggcagcagcagcAgcagcagcaacagaagaagg	15	11	0	2	rs140460592		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:116187657A>G	uc004bho.3	+	10	1295	c.899A>G	c.(898-900)CAG>CGG	p.Q300R	C9orf43_uc004bhp.2_Missense_Mutation_p.Q300R	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	300	Gln-rich.										0						cagcagcagcagcagcagcaa	0.438													G	116187657	A	G	116187657	3	3	270	1	0	0	0	0	1	0	0	0	2483	188	7	3	933	3	C9orf43	9	116187657	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1855203	116187657	25025774	661	134161											
ASTN2	23245	broad.mit.edu	37	chr9	119413907	119413907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctccttgcctggccggCggcaaaggtgacaggtagat	15	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:119413907C>T	uc004bjs.1	-	17	3073	c.2972G>A	c.(2971-2973)CGC>CAC	p.R991H	ASTN2_uc004bjr.1_Missense_Mutation_p.R987H|ASTN2_uc004bjt.1_Missense_Mutation_p.R940H|ASTN2_uc004bjp.1_Missense_Mutation_p.R84H|ASTN2_uc004bjq.1_Missense_Mutation_p.R43H|ASTN2_uc011lxr.1_Missense_Mutation_p.R43H|ASTN2_uc011lxs.1_Missense_Mutation_p.R43H|ASTN2_uc011lxt.1_Missense_Mutation_p.R43H|ASTN2_uc004bjv.1_Missense_Mutation_p.R43H	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	991	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GCCTGGCCGGCGGCAAAGGTG	0.562													T	119413907	C	T	119413907	3	4	270	1	0	0	0	0	1	0	0	0	1065	768	27	1	1194	1	ASTN2	9	119413907	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3226250	119413907	21799524	662	134162											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123165314	123165314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtcgcaggagagggagtCcgtgtcattcccagagagtg	15	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:123165314C>T	uc004bkf.2	-	34	5258	c.5077G>A	c.(5077-5079)GAC>AAC	p.D1693N	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.D702N|CDK5RAP2_uc004bke.2_Missense_Mutation_p.D978N|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.D1614N|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.D958N|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.D958N|CDK5RAP2_uc011lya.1_Missense_Mutation_p.D958N|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.D1463N	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1693					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						GAGAGGGAGTCCGTGTCATTC	0.537													T	123165314	C	T	123165314	3	4	270	1	0	0	0	0	1	0	0	0	3146	855	30	4	624	4	CDK5RAP2	9	123165314	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3751407	123165314	18048117	663	134163											
MEGF9	1955	broad.mit.edu	37	chr9	123370165	123370165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaactgggtccacatggCcgtgacattggcactttcta	9	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:123370165C>T	uc004bkj.1	-	7	1322	c.1322G>A	c.(1321-1323)GGC>GAC	p.G441D	MEGF9_uc011lyb.1_Missense_Mutation_p.G396D	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	404	Laminin EGF-like 5.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						GTCCACATGGCCGTGACATTG	0.448													T	123370165	C	T	123370165	3	4	270	1	0	0	0	0	1	0	0	0	9464	739	26	2	605	2	MEGF9	9	123370165	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	204851	123370165	17843266	664	134164											
NDUFA8	4702	broad.mit.edu	37	chr9	124906542	124906542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggtccagaaataaaagCggctgccatgtgtggcaggc	13	9	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:124906542C>T	uc004blv.2	-	4	639	c.497G>A	c.(496-498)CGC>CAC	p.R166H		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	166					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	GAAATAAAAGCGGCTGCCATG	0.542													T	124906542	C	T	124906542	3	4	270	1	0	0	0	0	1	0	0	0	10271	768	27	1	25	1	NDUFA8	9	124906542	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1536377	124906542	16306889	665	134165											
OR1Q1	158131	broad.mit.edu	37	chr9	125377119	125377119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttttctcactcatgTacgcaatcaatatttctggc	5	11	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:125377119T>C	uc011lyy.1	+	1	103	c.103T>C	c.(103-105)TAC>CAC	p.Y35H		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCACTCATGTACGCAATCAA	0.483													C	125377119	T	C	125377119	3	2	270	1	0	0	0	0	1	0	0	0	10971	1638	57	3	105	3	OR1Q1	9	125377119	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	470577	125377119	15836312	666	134166											
RC3H2	54542	broad.mit.edu	37	chr9	125618021	125618021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatcataccattaacacaGcatttgaattagcaatgaca	4	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:125618021G>A	uc010mwc.1	-	14	2832	c.2591C>T	c.(2590-2592)GCT>GTT	p.A864V	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.A864V|RC3H2_uc004bne.3_Missense_Mutation_p.A864V	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	864						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						CATTAACACAGCATTTGAATT	0.408													A	125618021	G	A	125618021	3	1	270	1	0	0	0	0	1	0	0	0	13167	971	34	2	1094	2	RC3H2	9	125618021	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	240902	125618021	15595410	667	134167											
RABGAP1	23637	broad.mit.edu	37	chr9	125758824	125758824	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttttgtaggtgtttTggtcttctccttagtccagg	9	7	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:125758824T>C	uc011lzh.1	+	8	1175	c.1041T>C	c.(1039-1041)TTT>TTC	p.F347F	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	347					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						GTAGGTGTTTTGGTCTTCTCC	0.284													C	125758824	T	C	125758824	2	2	270	1	0	0	0	0	0	0	0	1	12964	1809	63	3		3	RABGAP1	9	125758824	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	140803	125758824	15454607	668	134168											
DENND1A	57706	broad.mit.edu	37	chr9	126319911	126319911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggccttgaggaacgCtctggccacaccatccccag	11	16	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:126319911C>T	uc004bnz.1	-	13	1164	c.931G>A	c.(931-933)GCG>ACG	p.A311T	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Missense_Mutation_p.A128T|DENND1A_uc011lzm.1_Missense_Mutation_p.A279T|DENND1A_uc004boa.1_Missense_Mutation_p.A311T|DENND1A_uc004bob.1_Missense_Mutation_p.A281T|DENND1A_uc004boc.2_Missense_Mutation_p.A279T	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	311	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						TTGAGGAACGCTCTGGCCACA	0.532													T	126319911	C	T	126319911	3	4	270	1	0	0	0	0	1	0	0	0	4426	797	28	2	2245	2	DENND1A	9	126319911	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	561087	126319911	14893520	669	134169											
GARNL3	84253	broad.mit.edu	37	chr9	130111247	130111247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaatttccctcatgaagcCgtgtgtgcagatccctgggg	12	10	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:130111247C>T	uc011mae.1	+	17	1877	c.1476C>T	c.(1474-1476)GCC>GCT	p.A492A	GARNL3_uc011mad.1_Silent_p.A470A	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	492	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTCATGAAGCCGTGTGTGCAG	0.512													T	130111247	C	T	130111247	2	4	270	1	0	0	0	0	0	0	0	1	6241	639	23	1		1	GARNL3	9	130111247	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3791336	130111247	11102184	670	134170											
SH2D3C	10044	broad.mit.edu	37	chr9	130507072	130507072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctgacagttcctttagcCtctccccatagctcctggcc	6	16	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:130507072C>A	uc004bsc.2	-	7	1713	c.1571G>T	c.(1570-1572)AGG>ATG	p.R524M	SH2D3C_uc010mxo.2_Missense_Mutation_p.R364M|SH2D3C_uc004bry.2_Missense_Mutation_p.R366M|SH2D3C_uc004brz.3_Missense_Mutation_p.R170M|SH2D3C_uc011mak.1_Missense_Mutation_p.R170M|SH2D3C_uc004bsa.2_Missense_Mutation_p.R367M|SH2D3C_uc004bsb.2_Missense_Mutation_p.R456M	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	524					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						TTCCTTTAGCCTCTCCCCATA	0.622													A	130507072	C	A	130507072	3	1	270	1	0	0	0	0	1	0	0	0	14234	681	24	5	1035	5	SH2D3C	9	130507072	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	395825	130507072	10706359	671	134171											
C9orf119	375757	broad.mit.edu	37	chr9	131038511	131038511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccacctcgggagaggggCggggccggctttccttgggt	18	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:131038511C>T	uc004bup.2	+	1	87	c.87C>T	c.(85-87)GGC>GGT	p.G29G	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Silent_p.G29G	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	29					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						GGGAGAGGGGCGGGGCCGGCT	0.682													T	131038511	C	T	131038511	2	4	270	1	0	0	0	0	0	0	0	1	2452	755	27	1		1	C9orf119	9	131038511	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	531439	131038511	10174920	672	134172											
SPTAN1	6709	broad.mit.edu	37	chr9	131351145	131351145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggtcttggctctctacGactatcaggagaagagtccc	11	11	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:131351145G>A	uc004bvl.3	+	21	3042	c.2929G>A	c.(2929-2931)GAC>AAC	p.D977N	SPTAN1_uc011mbg.1_Missense_Mutation_p.D977N|SPTAN1_uc011mbh.1_Missense_Mutation_p.D989N|SPTAN1_uc004bvm.3_Missense_Mutation_p.D977N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D977N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	977	SH3.				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			breast(5)|ovary(4)|pancreas(1)	10						GGCTCTCTACGACTATCAGGA	0.512													A	131351145	G	A	131351145	3	1	270	1	0	0	0	0	1	0	0	0	15116	1058	37	1	3007	1	SPTAN1	9	131351145	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	312634	131351145	9862286	673	134173											
LRRC8A	56262	broad.mit.edu	37	chr9	131670898	131670898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcggccaagattgaagcGcccgcgctggccttcctgcg	13	15	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:131670898G>A	uc004bwl.3	+	3	1709	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A	LRRC8A_uc010myp.2_Silent_p.A485A|LRRC8A_uc010myq.2_Silent_p.A485A	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	485	LRR 5.				pre-B cell differentiation	integral to membrane					0						AGATTGAAGCGCCCGCGCTGG	0.617													A	131670898	G	A	131670898	2	1	270	1	0	0	0	0	0	0	0	1	9021	1074	38	1		1	LRRC8A	9	131670898	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	319753	131670898	9542533	674	134174											
ASS1	445	broad.mit.edu	37	chr9	133355118	133355118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaggggtccctgtgaaggTgaccaacgtcaaggatggca	14	10	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:133355118T>C	uc004bzm.2	+	11	1060	c.704T>C	c.(703-705)GTG>GCG	p.V235A	ASS1_uc004bzn.2_Missense_Mutation_p.V235A|ASS1_uc010mza.2_Missense_Mutation_p.V311A|ASS1_uc004bzo.2_Missense_Mutation_p.V216A|ASS1_uc010mzb.2_Missense_Mutation_p.V273A|ASS1_uc004bzp.2_Missense_Mutation_p.V235A|ASS1_uc010mzc.2_Missense_Mutation_p.V235A	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	235					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCTGTGAAGGTGACCAACGTC	0.647													C	133355118	T	C	133355118	3	2	270	1	0	0	0	0	1	0	0	0	1061	1696	59	3	738	3	ASS1	9	133355118	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1684220	133355118	7858313	675	134175											
POMT1	10585	broad.mit.edu	37	chr9	134397509	134397509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactacctcccgttcttccTgatggagaagacactcttcc	7	14	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:134397509T>C	uc004cav.2	+	19	2169	c.1967T>C	c.(1966-1968)CTG>CCG	p.L656P	POMT1_uc004cax.2_Missense_Mutation_p.L634P|POMT1_uc011mcj.1_Missense_Mutation_p.L374P|POMT1_uc004cau.2_Missense_Mutation_p.L634P|POMT1_uc004caw.2_Missense_Mutation_p.L580P|POMT1_uc011mck.1_Missense_Mutation_p.L517P|POMT1_uc011mcl.1_Missense_Mutation_p.L482P|POMT1_uc011mcm.1_Missense_Mutation_p.L604P	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	656	Helical; (Potential).				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CCGTTCTTCCTGATGGAGAAG	0.602													C	134397509	T	C	134397509	3	2	270	1	0	0	0	0	1	0	0	0	12245	1580	55	3	2037	3	POMT1	9	134397509	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1042391	134397509	6815922	676	134176											
TSC1	7248	broad.mit.edu	37	chr9	135786042	135786042	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggggctggaggaggagaGgttgctggggttcccagagg	22	5	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:135786042G>T	uc004cca.2	-	12	1413	c.1179C>A	c.(1177-1179)ACC>ACA	p.T393T	TSC1_uc004ccb.3_Silent_p.T392T|TSC1_uc011mcq.1_Silent_p.T342T|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Silent_p.T272T|TSC1_uc004ccc.1_Silent_p.T393T	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	393					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)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAGGAGGAGAGGTTGCTGGGG	0.532			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	135786042	G	T	135786042	2	4	270	1	0	0	0	0	0	0	0	1	16602	987	35	5		5	TSC1	9	135786042	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1388533	135786042	5427389	677	134177											
COL5A1	1289	broad.mit.edu	37	chr9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctacgaggaccacaCggggaagcctggcccggaag	13	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:137591908C>T	uc004cfe.2	+	3	813	c.431C>T	c.(430-432)ACG>ATG	p.T144M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	144	TSP N-terminal.|Laminin G-like.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GAGGACCACACGGGGAAGCCT	0.627													T	137591908	C	T	137591908	3	4	270	1	0	0	0	0	1	0	0	0	3696	536	19	1	441	1	COL5A1	9	137591908	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1805866	137591908	3621523	678	134178											
COL5A1	1289	broad.mit.edu	37	chr9	137657580	137657580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcctcccggacctccCgtaagtcccattaccgccct	7	20	0	0	rs146757272		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:137657580C>T	uc004cfe.2	+	21	2470	c.2088C>T	c.(2086-2088)CCC>CCT	p.P696P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	696	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).	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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		CCGGACCTCCCGTAAGTCCCA	0.632													T	137657580	C	T	137657580	2	4	270	1	0	0	0	0	0	0	0	1	3696	666	23	1		1	COL5A1	9	137657580	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	65672	137657580	3555851	679	134179											
SOHLH1	402381	broad.mit.edu	37	chr9	138588520	138588520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagtgcctcacacttgtccGtgcccagggacgtgcagctc	11	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:138588520G>T	uc004cgl.2	-	5	660	c.599C>A	c.(598-600)ACG>AAG	p.T200K	SOHLH1_uc010nbe.2_Missense_Mutation_p.T200K	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	200					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACACTTGTCCGTGCCCAGGGA	0.682													T	138588520	G	T	138588520	3	4	270	1	0	0	0	0	1	0	0	0	14923	1145	40	5	621	5	SOHLH1	9	138588520	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	930940	138588520	2624911	680	134180											
UAP1L1	91373	broad.mit.edu	37	chr9	139975224	139975224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgacagggacagtccccGcaccgctcgccaggccctgc	12	19	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:139975224G>A	uc010ncb.2	+	7	1294	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	UAP1L1_uc004cla.3_Missense_Mutation_p.R298H	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	421							nucleotidyltransferase activity			ovary(1)	1	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)		GACAGTCCCCGCACCGCTCGC	0.677													A	139975224	G	A	139975224	3	1	270	1	0	0	0	0	1	0	0	0	16823	1087	38	1	1288	1	UAP1L1	9	139975224	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1386704	139975224	1238207	681	134181											
PNPLA7	375775	broad.mit.edu	37	chr9	140361857	140361857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggccccgatggacgtgCctcccaccatgtccacaggg	12	16	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:140361857C>T	uc004cnf.2	-	25	3213	c.2876G>A	c.(2875-2877)GGC>GAC	p.G959D	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.G225D|PNPLA7_uc004cne.1_Missense_Mutation_p.G225D|PNPLA7_uc011mfa.1_Missense_Mutation_p.G367D|PNPLA7_uc010ncj.1_Missense_Mutation_p.G984D	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	959	Patatin.|GXSXG.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGACGTGCCTCCCACCAT	0.647													T	140361857	C	T	140361857	3	4	270	1	0	0	0	0	1	0	0	0	12170	739	26	2	1117	2	PNPLA7	9	140361857	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	386633	140361857	851574	682	134182											
CACNA1B	774	broad.mit.edu	37	chr9	141016157	141016157	+	Frame_Shift_Del	DEL	C	C	-													aacgccctgctgcagagagaCcccctcagccagcccctggc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:141016156_141016156AC>A	uc004cog.3	+	45	6864	c.6719_6719AC>A	c.(6718-6720)gacfs	p.D2240fs	CACNA1B_uc022bqn.1_Frame_Shift_Del_p.T2178fs|CACNA1B_uc004coi.3_Frame_Shift_Del_p.D1454fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2242					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)	CTGCAGAGAGACCCCCTCAGC	0.672													-	141016157	C	-	141016157	7	5	270	1	0	1	0	1	0	0	0	0	2539	506	18	0	6908	0	CACNA1B	9	141016157	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	654300	141016157	197274	683	134183											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		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						GAATTCCAATGTTTTTTTAAG	0.353													-	890939	T	-	890939	7	5	270	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08		890939	134643808	684	134184											
PFKP	5214	broad.mit.edu	37	chr10	3151612	3151612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccggacaccccagcttgCgtcgtgtcactgaacgggaa	11	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:3151612C>T	uc001igp.2	+	10	1065	c.1029C>T	c.(1027-1029)TGC>TGT	p.C343C	PFKP_uc001igq.2_Silent_p.C335C|PFKP_uc009xhr.2_Silent_p.C305C|PFKP_uc009xhs.1_Silent_p.C127C|PFKP_uc009xht.2_Silent_p.C81C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	343					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCCCAGCTTGCGTCGTGTCAC	0.672													T	3151612	C	T	3151612	2	4	270	1	0	0	0	0	0	0	0	1	11766	776	27	1		1	PFKP	10	3151612	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2260673	3151612	132383135	685	134185											
AKR1C4	1109	broad.mit.edu	37	chr10	5255081	5255081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtggggttgtggtcctgGccaagagctacaatgagcag	16	8	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:5255081G>A	uc001ihw.2	+	7	838	c.805G>A	c.(805-807)GCC>ACC	p.A269T		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	269	NADP.				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			ovary(1)	1					NADH(DB00157)	TGTGGTCCTGGCCAAGAGCTA	0.552													A	5255081	G	A	5255081	3	1	270	1	0	0	0	0	1	0	0	0	472	1203	42	2	831	2	AKR1C4	10	5255081	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2103469	5255081	130279666	686	134186											
TUBAL3	79861	broad.mit.edu	37	chr10	5436175	5436175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatggcatatatcatagaCggcctcgttgtccaccatga	9	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:5436175C>T	uc001ihy.2	-	4	686	c.646G>A	c.(646-648)GTC>ATC	p.V216I	TUBAL3_uc001ihz.2_Missense_Mutation_p.V176I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	216					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						ATATCATAGACGGCCTCGTTG	0.517													T	5436175	C	T	5436175	3	4	270	1	0	0	0	0	1	0	0	0	16748	536	19	1	698	1	TUBAL3	10	5436175	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	181094	5436175	130098572	687	134187											
KIN	22944	broad.mit.edu	37	chr10	7817765	7817765	+	Splice_Site	DEL	A	A	-													cgtaaaagtagggacctcctAaaaaaaagaaagttttaagg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318													-	7817765	A	-	7817765	8	5	270	1	0	1	0	1	0	0	1	0	8315	377	13	0		0	KIN	10	7817765	Splice_Site	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	2381590	7817765	127716982	688	134188											
GATA3	2625	broad.mit.edu	37	chr10	8106092	8106092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccctcattaagcccaaGcgaaggctggtaagttctcg	11	13	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:8106092G>A	uc001ika.2	+	4	1469	c.912G>A	c.(910-912)AAG>AAA	p.K304K	GATA3_uc001ijz.2_Silent_p.K305K	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	304					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			breast(17)|ovary(3)|central_nervous_system(2)	22						TTAAGCCCAAGCGAAGGCTGG	0.552			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8106092	G	A	8106092	2	1	270	1	0	0	0	0	0	0	0	1	6255	962	34	2		2	GATA3	10	8106092	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	288327	8106092	127428655	689	134189											
DHTKD1	55526	broad.mit.edu	37	chr10	12148275	12148275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactgtcagaagaggccGtcctgggatttgaatatggg	14	9	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:12148275G>A	uc001ild.3	+	11	2026	c.1927G>A	c.(1927-1929)GTC>ATC	p.V643I		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	643					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.V643I(1)		ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGAAGAGGCCGTCCTGGGATT	0.537													A	12148275	G	A	12148275	3	1	270	1	0	0	0	0	1	0	0	0	4500	1145	40	1	1969	1	DHTKD1	10	12148275	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4042183	12148275	123386472	690	134190											
MCM10	55388	broad.mit.edu	37	chr10	13213034	13213034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaaaatggcgagcccgaCgcatttgatgagctctttga	13	9	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:13213034C>T	uc001ima.2	+	3	221	c.120C>T	c.(118-120)GAC>GAT	p.D40D	MCM10_uc001imb.2_Silent_p.D40D|MCM10_uc001imc.2_Silent_p.D40D	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	40					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			ovary(2)|central_nervous_system(1)	3						GCGAGCCCGACGCATTTGATG	0.468													T	13213034	C	T	13213034	2	4	270	1	0	0	0	0	0	0	0	1	9385	535	19	1		1	MCM10	10	13213034	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1064759	13213034	122321713	691	134191											
MCM10	55388	broad.mit.edu	37	chr10	13222486	13222486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaacaagaaaatgaccgGccgaaaactgatcagactgt	9	8	1	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:13222486G>A	uc001ima.2	+	7	913	c.812G>A	c.(811-813)GGC>GAC	p.G271D	MCM10_uc001imb.2_Missense_Mutation_p.G270D|MCM10_uc001imc.2_Missense_Mutation_p.G270D	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	271					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			ovary(2)|central_nervous_system(1)	3						AAAATGACCGGCCGAAAACTG	0.418													A	13222486	G	A	13222486	3	1	270	1	0	0	0	0	1	0	0	0	9385	1203	42	2	834	2	MCM10	10	13222486	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9452	13222486	122312261	692	134192											
FRMD4A	55691	broad.mit.edu	37	chr10	13824973	13824973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctcaatggtagcattAtccttcaggtatgaaatgct	8	7	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:13824973A>G	uc001ims.2	-	6	685	c.333T>C	c.(331-333)GAT>GAC	p.D111D	FRMD4A_uc009xjf.1_Silent_p.D111D|FRMD4A_uc001imt.1_Silent_p.D144D|FRMD4A_uc001imu.1_Silent_p.D127D	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	111	FERM.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TGGTAGCATTATCCTTCAGGT	0.418													G	13824973	A	G	13824973	2	3	270	1	0	0	0	0	0	0	0	1	6051	446	16	3		3	FRMD4A	10	13824973	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	602487	13824973	121709774	693	134193											
RPP38	10557	broad.mit.edu	37	chr10	15146145	15146146	+	Frame_Shift_Ins	INS	-	-	A													aaggaaaccacccaaaagtaINSaaaaagctactccaaagtaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:15146144_15146145T>TA	uc001iny.4	+	2	1544_1545	c.831_832T>TA	c.(829-834)agtaaafs	p.S277fs	RPP38_uc009xjm.3_Frame_Shift_Ins_p.S277fs|RPP38_uc001inx.4_Frame_Shift_Ins_p.S277fs|RPP38_uc021pnk.1_Frame_Shift_Ins_p.S277fs	NM_183005	NP_892117	P78345	RPP38_HUMAN	Homo sapiens ribonuclease P/MRP 38kDa subunit (RPP38), transcript variant 1, mRNA.	277					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CACCCAAAAGTAAAAAAGCTAC	0.361													A	15146146	-	A	15146145	7	5	270	1	0	1	1	0	0	0	0	0	13613	363	13	0	834	0	RPP38	10	15146145	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1321172	15146145	120388602	694	134194											
ST8SIA6	338596	broad.mit.edu	37	chr10	17495589	17495589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggtaccgcggtcgccgGgctccggagcgtcctcagcg	17	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:17495589G>T	uc001ipd.2	-	2	169	c.169C>A	c.(169-171)CCG>ACG	p.P57T	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	57	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						GCGGTCGCCGGGCTCCGGAGC	0.711													T	17495589	G	T	17495589	3	4	270	1	0	0	0	0	1	0	0	0	15235	1232	43	5	1055	5	ST8SIA6	10	17495589	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2349444	17495589	118039158	695	134195											
NEBL	10529	broad.mit.edu	37	chr10	21157652	21157652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggtcttccaattacagCgggctctttattcattattc	6	10	4	0	rs142138590		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:21157652C>T	uc001iqi.2	-	7	1022	c.625G>A	c.(625-627)GCT>ACT	p.A209T	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	209	Nebulin 6.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CCAATTACAGCGGGCTCTTTA	0.343													T	21157652	C	T	21157652	3	4	270	1	0	0	0	0	1	0	0	0	10303	768	27	1	2507	1	NEBL	10	21157652	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3662063	21157652	114377095	696	134196											
ARMC4	55130	broad.mit.edu	37	chr10	28283978	28283978	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacacaataatttcttTcaatatcgcttcatttagag	3	9	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:28283978T>A	uc009xky.2	-	2	192	c.94A>T	c.(94-96)AAA>TAA	p.K32*	ARMC4_uc001itz.2_Nonsense_Mutation_p.K32*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	32							binding			ovary(4)|skin(2)	6						ATAATTTCTTTCAATATCGCT	0.438													A	28283978	T	A	28283978	4	1	270	1	0	0	0	0	0	1	0	0	953	1792	62	5	3116	5	ARMC4	10	28283978	Nonsense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	7126326	28283978	107250769	697	134197											
SVIL	6840	broad.mit.edu	37	chr10	29813608	29813608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccctcatttgtctggtcCttggctaaggccttttggtg	11	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:29813608C>A	uc001iut.1	-	14	3132	c.2379G>T	c.(2377-2379)AAG>AAT	p.K793N	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.K367N	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	793					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TTGTCTGGTCCTTGGCTAAGG	0.443													A	29813608	C	A	29813608	3	1	270	1	0	0	0	0	1	0	0	0	15418	680	24	5	4365	5	SVIL	10	29813608	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1529630	29813608	105721139	698	134198											
SVIL	6840	broad.mit.edu	37	chr10	29821018	29821018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaccaggagaaaaatagCgtcttggtttccgggaccct	10	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:29821018C>T	uc001iut.1	-	9	2675	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	641					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				AGAAAAATAGCGTCTTGGTTT	0.502													T	29821018	C	T	29821018	3	4	270	1	0	0	0	0	1	0	0	0	15418	768	27	1	4842	1	SVIL	10	29821018	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7410	29821018	105713729	699	134199											
HNRNPF	3185	broad.mit.edu	37	chr10	43882892	43882892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgtaatcttgccttcGgggtccacaggcaatgtgat	10	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:43882892G>A	uc009xmh.1	-	3	928	c.441C>T	c.(439-441)CCC>CCT	p.P147P	HNRNPF_uc001jar.2_Silent_p.P147P|HNRNPF_uc001jas.2_Silent_p.P147P|HNRNPF_uc001jat.2_Silent_p.P147P|HNRNPF_uc001jav.2_Silent_p.P147P|HNRNPF_uc001jau.2_Silent_p.P147P|uc010qfa.1_3'UTR	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	147	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TCTTGCCTTCGGGGTCCACAG	0.512													A	43882892	G	A	43882892	2	1	270	1	0	0	0	0	0	0	0	1	7265	1103	39	1		1	HNRNPF	10	43882892	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	14061874	43882892	91651855	700	134200											
RBP3	5949	broad.mit.edu	37	chr10	48389461	48389461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggtccatgatgaggtGctccgtgtcctgtagcggct	15	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:48389461G>T	uc001jez.2	-	1	1531	c.1417C>A	c.(1417-1419)CAC>AAC	p.H473N		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	473	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ATGATGAGGTGCTCCGTGTCC	0.652													T	48389461	G	T	48389461	3	4	270	1	0	0	0	0	1	0	0	0	13157	1319	46	5	2342	5	RBP3	10	48389461	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4506569	48389461	87145286	701	134201											
ERCC6	2074	broad.mit.edu	37	chr10	50740814	50740814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggctggccctctcctcGgagctgctgatgcgcacccc	13	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:50740814G>A	uc001jhs.3	-	2	351	c.197C>T	c.(196-198)CCG>CTG	p.P66L	PGBD3_uc009xoe.2_Missense_Mutation_p.P66L|PGBD3_uc001jhu.2_Missense_Mutation_p.P66L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	66					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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CCCTCTCCTCGGAGCTGCTGA	0.622								Direct_reversal_of_damage|NER					A	50740814	G	A	50740814	3	1	270	1	0	0	0	0	1	0	0	0	5217	1116	39	1	4364	1	ERCC6	10	50740814	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2351353	50740814	84793933	702	134202											
MBL2	4153	broad.mit.edu	37	chr10	54530516	54530517	+	Frame_Shift_Ins	INS	-	-	G													tggaggccccaactttccagINSgggggccctgtaagcctctg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:54530515_54530516A>AG	uc001jjt.3	-	1	283_284	c.218_219T>CT	c.(217-219)cctfs	p.P73fs		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	73	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	p.P72P(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCAACTTTCCAGGGGGGCCCTG	0.53													G	54530517	-	G	54530516	7	5	270	1	0	1	1	0	0	0	0	0	9350	1000	35	0	540	0	MBL2	10	54530516	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	3789702	54530516	81004231	703	134203											
PCDH15	65217	broad.mit.edu	37	chr10	55581693	55581693	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaactccccttgttttgTtcagatgtgatttccatatt	5	9	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:55581693T>G	uc001jju.1	-	33	6188	c.5793A>C	c.(5791-5793)GAA>GAC	p.E1931D	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E785D|PCDH15_uc010qhv.1_Missense_Mutation_p.E1928D|PCDH15_uc010qhw.1_Missense_Mutation_p.E1891D|PCDH15_uc010qhx.1_Missense_Mutation_p.E1862D|PCDH15_uc010qhy.1_Missense_Mutation_p.E1938D|PCDH15_uc010qhz.1_Missense_Mutation_p.E1933D|PCDH15_uc010qia.1_Missense_Mutation_p.E1911D|PCDH15_uc010qib.1_Missense_Mutation_p.E1908D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1931	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTGTTTTGTTCAGATGTGA	0.348										HNSCC(58;0.16)			G	55581693	T	G	55581693	3	3	270	1	0	0	0	0	1	0	0	0	11511	1722	60	5	1684	5	PCDH15	10	55581693	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1051177	55581693	79953054	704	134204											
CCDC6	8030	broad.mit.edu	37	chr10	61665922	61665922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgcggttctcctcctgCagtgccttgcacttcagttt	10	13	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:61665922C>T	uc001jks.3	-	1	897	c.261G>A	c.(259-261)CTG>CTA	p.L87L		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	87	Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		TCTCCTCCTGCAGTGCCTTGC	0.667													T	61665922	C	T	61665922	2	4	270	1	0	0	0	0	0	0	0	1	2830	697	25	2		2	CCDC6	10	61665922	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6084229	61665922	73868825	705	134205											
SLC25A16	8034	broad.mit.edu	37	chr10	70263442	70263442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgaaattcccagcttcGtagtaattaactagaaaaca	6	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:70263442G>A	uc001joi.2	-	4	820	c.368C>T	c.(367-369)ACG>ATG	p.T123M	SLC25A16_uc010qix.1_Translation_Start_Site|SLC25A16_uc010qiy.1_Missense_Mutation_p.T25M|SLC25A16_uc001joj.2_Missense_Mutation_p.T25M	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	123					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0						TCCCAGCTTCGTAGTAATTAA	0.308													A	70263442	G	A	70263442	3	1	270	1	0	0	0	0	1	0	0	0	14478	1145	40	1	654	1	SLC25A16	10	70263442	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	8597520	70263442	65271305	706	134206											
KIAA1279	26128	broad.mit.edu	37	chr10	70748821	70748821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgccctggggctgccggCtgaggtggtggagcccgagg	19	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:70748821C>T	uc001joy.2	+	1	329	c.233C>T	c.(232-234)GCT>GTT	p.A78V		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	78					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						GGGCTGCCGGCTGAGGTGGTG	0.721													T	70748821	C	T	70748821	3	4	270	1	0	0	0	0	1	0	0	0	8221	797	28	2	235	2	KIAA1279	10	70748821	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	485379	70748821	64785926	707	134207											
NEUROG3	50674	broad.mit.edu	37	chr10	71332693	71332693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgagtggggctgggcGgggcggacgtggggcaggtc	25	7	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:71332693G>T	uc001jpp.2	-	2	265	c.107C>A	c.(106-108)CCG>CAG	p.P36Q		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	36					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				0						GGGGCTGGGCGGGGCGGACGT	0.726													T	71332693	G	T	71332693	3	4	270	1	0	0	0	0	1	0	0	0	10354	1116	39	5	541	5	NEUROG3	10	71332693	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	583872	71332693	64202054	708	134208											
PRF1	5551	broad.mit.edu	37	chr10	72358189	72358189	+	Frame_Shift_Del	DEL	C	C	-													atccgtggcagtgaaccagtCcccccacaggccccatgctt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:72358188_72358188TC>T	uc009xqg.3	-	2	1450	c.1289_1289GA>A	c.(1288-1290)gacfs	p.D430fs	PRF1_uc001jrf.4_Frame_Shift_Del_p.D430fs	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	430	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTGAACCAGTCCCCCCACAG	0.622			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				-	72358189	C	-	72358189	7	5	270	1	0	1	0	1	0	0	0	0	12478	855	30	0	383	0	PRF1	10	72358189	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1025496	72358189	63176558	709	134209											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511376	72511376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcgctcaagagctgggCcccctgcagcaaggcctgtg	16	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:72511376C>T	uc001jrh.2	+	17	2570	c.2570C>T	c.(2569-2571)GCC>GTC	p.A857V	ADAMTS14_uc001jrg.2_Missense_Mutation_p.A860V	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	857	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						AAGAGCTGGGCCCCCTGCAGC	0.617													T	72511376	C	T	72511376	3	4	270	1	0	0	0	0	1	0	0	0	259	739	26	2	2645	2	ADAMTS14	10	72511376	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	153187	72511376	63023371	710	134210											
PCBD1	5092	broad.mit.edu	37	chr10	72645663	72645663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtccctctcctcagcGctcagcctgtgtgctttgcc	10	16	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:72645663G>A	uc001jrn.1	-	2	278	c.27C>T	c.(25-27)AGC>AGT	p.S9S		NM_000281	NP_000272	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine	9					L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity				0						TCTCCTCAGCGCTCAGCCTGT	0.527													A	72645663	G	A	72645663	2	1	270	1	0	0	0	0	0	0	0	1	11498	1078	38	1		1	PCBD1	10	72645663	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	134287	72645663	62889084	711	134211											
SLC29A3	55315	broad.mit.edu	37	chr10	73082600	73082600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgagctgaccaggaggCactgcttgagaagctgctgg	14	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:73082600C>T	uc001jrr.3	+	2	146	c.89C>T	c.(88-90)GCA>GTA	p.A30V	SLC29A3_uc001jrs.3_Missense_Mutation_p.A30V|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	30	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						GACCAGGAGGCACTGCTTGAG	0.587													T	73082600	C	T	73082600	3	4	270	1	0	0	0	0	1	0	0	0	14536	710	25	2	95	2	SLC29A3	10	73082600	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	436937	73082600	62452147	712	134212											
PLAU	5328	broad.mit.edu	37	chr10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G													gccatctacaggaggcaccgINSggggggctctgtcacctacg					rs145070893	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	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)	CAGGAGGCACCGGGGGGGCTCT	0.589													G	75673439	-	G	75673438	7	5	270	1	0	1	1	0	0	0	0	0	12022	1116	39	0	662	0	PLAU	10	75673438	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	2590838	75673438	59861309	713	134213											
DUSP13	51207	broad.mit.edu	37	chr10	76868884	76868884	+	Frame_Shift_Del	DEL	C	C	-													aaggcgtggctttgtcctctCcccccagctctgggagagag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:76868883_76868883TC>T	uc001jww.3	-	0	88	c.33_33GA>A	c.(31-33)ggafs	p.G11fs	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Frame_Shift_Del_p.G11fs|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	11						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTTTGTCCTCTCCCCCCAGCT	0.632													-	76868884	C	-	76868884	7	5	270	1	0	1	0	1	0	0	0	0	4813	855	30	0	1442	0	DUSP13	10	76868884	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1195446	76868884	58665863	714	134214											
ZNF503	84858	broad.mit.edu	37	chr10	77158710	77158710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcccagggctgcccggtgCgcccgaggtggggatgtgca	18	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:77158710C>T	uc001jxg.2	-	2	2074	c.1738G>A	c.(1738-1740)GCA>ACA	p.A580T	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CTGCCCGGTGCGCCCGAGGTG	0.716													T	77158710	C	T	77158710	3	4	270	1	0	0	0	0	1	0	0	0	17948	768	27	1	206	1	ZNF503	10	77158710	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	289826	77158710	58376037	715	134215											
ZNF503	84858	broad.mit.edu	37	chr10	77159254	77159254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcccagagacccggcCgcggccgccgccagctgcgc	14	20	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:77159254C>T	uc001jxg.2	-	2	1530	c.1194G>A	c.(1192-1194)GCG>GCA	p.A398A	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	398	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GAGACCCGGCCGCGGCCGCCG	0.726													T	77159254	C	T	77159254	2	4	270	1	0	0	0	0	0	0	0	1	17948	639	23	1		1	ZNF503	10	77159254	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	544	77159254	58375493	716	134216											
KCNMA1	3778	broad.mit.edu	37	chr10	78651415	78651415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatcagagcctccagctcCggcgtggctcctccggtcac	11	17	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:78651415C>T	uc001jxn.2	-	26	3387	c.3210G>A	c.(3208-3210)CCG>CCA	p.P1070P	KCNMA1_uc001jxj.2_Silent_p.P1016P|KCNMA1_uc001jxk.1_Silent_p.P688P|KCNMA1_uc009xrt.1_Silent_p.P861P|KCNMA1_uc001jxl.1_Silent_p.P695P|KCNMA1_uc001jxo.2_Silent_p.P1053P|KCNMA1_uc001jxm.2_Silent_p.P1012P|KCNMA1_uc001jxq.2_Silent_p.P1042P|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1070	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	CCTCCAGCTCCGGCGTGGCTC	0.577													T	78651415	C	T	78651415	2	4	270	1	0	0	0	0	0	0	0	1	8073	639	23	1		1	KCNMA1	10	78651415	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1492161	78651415	56883332	717	134217											
SH2D4B	387694	broad.mit.edu	37	chr10	82369293	82369293	+	Frame_Shift_Del	DEL	C	C	-													gaggaacaccaagttcatcgCcccctggttccatggtagca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:82369292_82369292GC>G	uc001kck.1	+	5	1400	c.970_970GC>G	c.(970-972)gccfs	p.A324fs	SH2D4B_uc001kcl.1_Frame_Shift_Del_p.A276fs|SH2D4B_uc001kcm.1_Frame_Shift_Del_p.A71fs	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	323										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAAGTTCATCGCCCCCTGGTT	0.597													-	82369293	C	-	82369293	7	5	270	1	0	1	0	1	0	0	0	0	14236	739	26	0	1037	0	SH2D4B	10	82369293	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	3717878	82369293	53165454	718	134218											
LRIT1	26103	broad.mit.edu	37	chr10	85997404	85997404	+	Frame_Shift_Del	DEL	G	G	-													tgtccggggggatggacgccGggggcagggtcatgtcgggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:85997403_85997403CG>C	uc001kcz.1	-	1	184	c.162_162CG>G	c.(160-162)ccgfs	p.P54fs		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	54	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGATGGACGCCGGGGGCAGGG	0.672													-	85997404	G	-	85997404	7	5	270	1	0	1	0	1	0	0	0	0	8947	1116	39	0	1722	0	LRIT1	10	85997404	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	3628111	85997404	49537343	719	134219											
MMRN2	79812	broad.mit.edu	37	chr10	88702910	88702910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcgcgtccacggccagcGacacggcgtccacggcgttc	14	16	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:88702910G>A	uc001kea.2	-	6	1758	c.1631C>T	c.(1630-1632)TCG>TTG	p.S544L	MMRN2_uc010qmn.1_Missense_Mutation_p.S187L|MMRN2_uc009xtb.2_Missense_Mutation_p.S501L	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	544						extracellular space				large_intestine(1)	1						CACGGCCAGCGACACGGCGTC	0.751													A	88702910	G	A	88702910	3	1	270	1	0	0	0	0	1	0	0	0	9671	1059	37	1	1226	1	MMRN2	10	88702910	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2705506	88702910	46831837	720	134220											
MINPP1	9562	broad.mit.edu	37	chr10	89268174	89268174	+	Frame_Shift_Del	DEL	A	A	-													gaagtttttaactgaagtagAaaaaaatgctacagctcttt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:89268173_89268173GA>G	uc001keu.3	+	1	1168	c.718_718GA>G	c.(718-720)gaafs	p.E240fs	MINPP1_uc001kev.3_Frame_Shift_Del_p.E240fs|MINPP1_uc009xtf.2_Non-coding_Transcript|MINPP1_uc021pvv.1_Frame_Shift_Del_p.E39fs	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	Homo sapiens multiple inositol-polyphosphate phosphatase 1 (MINPP1), transcript variant 1, mRNA.	240					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)		AACTGAAGTAGAAAAAAATGC	0.338													-	89268174	A	-	89268174	7	5	270	1	0	1	0	1	0	0	0	0	9588	246	9	0	763	0	MINPP1	10	89268174	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	565264	89268174	46266573	721	134221											
CYP26A1	1592	broad.mit.edu	37	chr10	94834065	94834065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgccttcctcccacagCggaggaagttcctgcagatg	10	16	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:94834065C>T	uc001kil.2	+	2	235	c.190C>T	c.(190-192)CGG>TGG	p.R64W	CYP26A1_uc001kik.1_5'UTR|CYP26A1_uc001kim.1_5'UTR	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	64					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CCTCCCACAGCGGAGGAAGTT	0.652													T	94834065	C	T	94834065	3	4	270	1	0	0	0	0	1	0	0	0	4155	782	27	1	196	1	CYP26A1	10	94834065	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5565891	94834065	40700682	722	134222											
CYP26A1	1592	broad.mit.edu	37	chr10	94834777	94834777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcgaggaaatgacccGcaatctcttctcgctgccca	9	15	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:94834777G>A	uc001kil.2	+	3	701	c.656G>A	c.(655-657)CGC>CAC	p.R219H	CYP26A1_uc001kik.1_Missense_Mutation_p.R150H|CYP26A1_uc001kim.1_Missense_Mutation_p.R117H	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	219					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GAAATGACCCGCAATCTCTTC	0.662													A	94834777	G	A	94834777	3	1	270	1	0	0	0	0	1	0	0	0	4155	1087	38	1	666	1	CYP26A1	10	94834777	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	712	94834777	40699970	723	134223											
PLCE1	51196	broad.mit.edu	37	chr10	96005982	96005982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagcccacaactgcctcCccagccagcagtaaagcaaa	7	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:96005982C>T	uc001kjk.2	+	8	3334	c.2700C>T	c.(2698-2700)TCC>TCT	p.S900S	PLCE1_uc010qnx.1_Silent_p.S900S|PLCE1_uc001kjm.2_Silent_p.S592S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	900					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			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CAACTGCCTCCCCAGCCAGCA	0.522													T	96005982	C	T	96005982	2	4	270	1	0	0	0	0	0	0	0	1	12034	610	22	4		4	PLCE1	10	96005982	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1171205	96005982	39528765	724	134224											
PKD2L1	9033	broad.mit.edu	37	chr10	102054765	102054765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtagccgagttgggcaTaggcgaagaaaacaatgaag	15	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:102054765T>C	uc001kqx.1	-	8	1855	c.1472A>G	c.(1471-1473)TAT>TGT	p.Y491C	PKD2L1_uc009xwm.1_Missense_Mutation_p.Y444C	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	491	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAGTTGGGCATAGGCGAAGAA	0.542													C	102054765	T	C	102054765	3	2	270	1	0	0	0	0	1	0	0	0	11967	1406	49	3	981	3	PKD2L1	10	102054765	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	6048783	102054765	33479982	725	134225											
SEC31B	25956	broad.mit.edu	37	chr10	102267696	102267696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcactgactttgatgataGgttcattcttcctgagatcc	8	9	3	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:102267696G>T	uc001krc.1	-	6	710	c.608C>A	c.(607-609)CCT>CAT	p.P203H	SEC31B_uc010qpo.1_Missense_Mutation_p.P202H|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.P206H|SEC31B_uc009xwn.1_Missense_Mutation_p.P203H|SEC31B_uc009xwo.1_Missense_Mutation_p.P203H|SEC31B_uc010qpq.1_Missense_Mutation_p.P46H|SEC31B_uc010qpr.1_RNA	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	203	WD 3.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TTTGATGATAGGTTCATTCTT	0.527													T	102267696	G	T	102267696	3	4	270	1	0	0	0	0	1	0	0	0	13999	1000	35	5	3015	5	SEC31B	10	102267696	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	212931	102267696	33267051	726	134226											
PDCD11	22984	broad.mit.edu	37	chr10	105200581	105200581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgggagggaaaagaggagGcagaagagacgaatgtgctg	18	4	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:105200581G>A	uc001kwy.1	+	30	4618	c.4531G>A	c.(4531-4533)GCA>ACA	p.A1511T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1511					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		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)		AAAAGAGGAGGCAGAAGAGAC	0.597													A	105200581	G	A	105200581	3	1	270	1	0	0	0	0	1	0	0	0	11617	1203	42	2	4645	2	PDCD11	10	105200581	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2932885	105200581	30334166	727	134227											
PDCD4	27250	broad.mit.edu	37	chr10	112647591	112647591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaaaatcatttgatAaattgttgaaagatctacct	7	4	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:112647591A>G	uc001kzh.2	+	6	967	c.724A>G	c.(724-726)AAA>GAA	p.K242E	PDCD4_uc001kzg.2_Missense_Mutation_p.K231E|PDCD4_uc010qre.1_Missense_Mutation_p.K228E	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	242	Nuclear localization signal (Potential).|MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATCATTTGATAAATTGTTGAA	0.393													G	112647591	A	G	112647591	3	3	270	1	0	0	0	0	1	0	0	0	11621	363	13	3	756	3	PDCD4	10	112647591	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	7447010	112647591	22887156	728	134228											
GPAM	57678	broad.mit.edu	37	chr10	113917103	113917103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagcttcttgtcccaCtgctgctcagcaagactagg	10	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:113917103C>T	uc009xxy.1	-	19	2223	c.2025G>A	c.(2023-2025)CAG>CAA	p.Q675Q	GPAM_uc001kzp.2_Silent_p.Q675Q|GPAM_uc001kzq.1_Silent_p.Q675Q	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	675	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		TCTTGTCCCACTGCTGCTCAG	0.463													T	113917103	C	T	113917103	2	4	270	1	0	0	0	0	0	0	0	1	6588	564	20	4		4	GPAM	10	113917103	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1269512	113917103	21617644	729	134229											
TCF7L2	6934	broad.mit.edu	37	chr10	114925402	114925402	+	Frame_Shift_Del	DEL	C	C	-													gaagcttactagattcgcctCccccctccccgaacctgcta					rs61724286		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:114925401_114925401TC>T	uc021pyi.1	+	14	2037	c.1530_1530TC>T	c.(1528-1530)cctfs	p.P510fs	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Frame_Shift_Del_p.P493fs|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Frame_Shift_Del_p.P226fs|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Frame_Shift_Del_p.P475fs|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Frame_Shift_Del_p.P498fs|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Frame_Shift_Del_p.P487fs|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Frame_Shift_Del_p.P470fs|TCF7L2_uc010qrl.2_Frame_Shift_Del_p.P470fs|TCF7L2_uc010qrr.2_Frame_Shift_Del_p.P425fs|TCF7L2_uc010qrs.2_Frame_Shift_Del_p.P381fs|TCF7L2_uc010qrt.2_Frame_Shift_Del_p.P381fs|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	510					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TAGATTCGCCTCCCCCCTCCC	0.592			T	VTI1A	colorectal								-	114925402	C	-	114925402	7	5	270	1	0	1	0	1	0	0	0	0	15695	855	30	0	1811	0	TCF7L2	10	114925402	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1008299	114925402	20609345	730	134230											
VAX1	11023	broad.mit.edu	37	chr10	118896160	118896161	+	Frame_Shift_Ins	INS	-	-	C													ggatgatctctcggatggacINScccttggcatctggggaagg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:118896159_118896160A>AC	uc009xyx.3	-	1	497_498	c.252_253T>GT	c.(250-255)gggtccfs	p.G84fs	VAX1_uc001ldb.1_Frame_Shift_Ins_p.G84fs	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 1, mRNA.	84						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTCGGATGGACCCCTTGGCAT	0.639													C	118896161	-	C	118896160	7	5	270	1	0	1	1	0	0	0	0	0	17131	494	18	0	900	0	VAX1	10	118896160	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	3970758	118896160	16638587	731	134231											
CPXM2	119587	broad.mit.edu	37	chr10	125528203	125528203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcccagcacctcattgcCgtgggcccccgcgatgtagt	12	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:125528203C>T	uc001lhk.1	-	9	1463	c.1138G>A	c.(1138-1140)GGC>AGC	p.G380S	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	380					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		ACCTCATTGCCGTGGGCCCCC	0.592													T	125528203	C	T	125528203	3	4	270	1	0	0	0	0	1	0	0	0	3838	652	23	1	1156	1	CPXM2	10	125528203	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6632043	125528203	10006544	732	134232											
LHPP	64077	broad.mit.edu	37	chr10	126186676	126186676	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaagtctgccctgcaagcGataggagtggaagcccacca	11	12	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:126186676G>A	uc001lhs.1	+	5	623	c.603G>A	c.(601-603)GCG>GCA	p.A201A	LHPP_uc001lht.1_Silent_p.A201A|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	201					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		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;0.163)|Colorectal(40;0.187)		CCCTGCAAGCGATAGGAGTGG	0.572													A	126186676	G	A	126186676	2	1	270	1	0	0	0	0	0	0	0	1	8769	1045	37	1		1	LHPP	10	126186676	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	658473	126186676	9348071	733	134233											
PTPRE	5791	broad.mit.edu	37	chr10	129881123	129881123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaattctgctacaaagtgGtacaagattttattgatata	7	4	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:129881123G>A	uc001lkb.2	+	21	2335	c.2056G>A	c.(2056-2058)GTA>ATA	p.V686I	PTPRE_uc009yat.2_Missense_Mutation_p.V697I|PTPRE_uc009yau.2_Missense_Mutation_p.V686I|PTPRE_uc001lkd.2_Missense_Mutation_p.V628I|PTPRE_uc010quq.1_Nonsense_Mutation_p.W541*	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	686	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			ovary(1)	1		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)				CTACAAAGTGGTACAAGATTT	0.254													A	129881123	G	A	129881123	3	1	270	1	0	0	0	0	1	0	0	0	12800	1261	44	4	2169	4	PTPRE	10	129881123	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3694447	129881123	5653624	734	134234											
MUC6	4588	broad.mit.edu	37	chr11	1017296	1017296	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggaacgtgagtgggaagTgtggtgtgagggtgtgatgg	22	1	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:1017296T>C	uc001lsw.2	-	31	5556	c.5505A>G	c.(5503-5505)ACA>ACG	p.T1835T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1835	Thr-rich.|2.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GAGTGGGAAGTGTGGTGTGAG	0.547													C	1017296	T	C	1017296	2	2	270	1	0	0	0	0	0	0	0	1	9980	1683	59	3		3	MUC6	11	1017296	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08		1017296	133989220	735	134235											
MUC2	4583	broad.mit.edu	37	chr11	1086062	1086062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccagcacgggcatcatcGtcatctgggacaagaggacc	12	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:1086062G>A	uc001lsx.1	+	22	2929	c.2902G>A	c.(2902-2904)GTC>ATC	p.V968I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	968	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	GGGCATCATCGTCATCTGGGA	0.657													A	1086062	G	A	1086062	3	1	270	1	0	0	0	0	1	0	0	0	9975	1145	40	1	2988	1	MUC2	11	1086062	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	68766	1086062	133920454	736	134236											
CTSD	1509	broad.mit.edu	37	chr11	1778684	1778684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccatcgaacttggctgCgatgaaggtgatgcctggct	14	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:1778684C>T	uc001luc.1	-	5	707	c.574G>A	c.(574-576)GCA>ACA	p.A192T	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	192					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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)	AACTTGGCTGCGATGAAGGTG	0.622											OREG0003774	type=REGULATORY REGION|Gene=CTSD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	1778684	C	T	1778684	3	4	270	1	0	0	0	0	1	0	0	0	4032	768	27	1	684	1	CTSD	11	1778684	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	692622	1778684	133227832	737	134237											
IGF2	3481	broad.mit.edu	37	chr11	2156625	2156625	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccgcggtccccacagacGaactggagggtgtccaccag	13	14	0	1	rs140032633		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:2156625G>A	uc009yde.2	-	2	232	c.129C>T	c.(127-129)TTC>TTT	p.F43F	IGF2_uc001lvf.2_5'Flank|IGF2_uc001lvg.2_Silent_p.F43F|IGF2_uc009ydf.2_Silent_p.F99F|IGF2_uc001lvh.2_Silent_p.F43F|INS-IGF2_uc001lvi.2_RNA|MIR483_hsa-mir-483|MI0002467_5'Flank|INS-IGF2_uc001lvj.1_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	43	B.				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)	1		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)		CCCCACAGACGAACTGGAGGG	0.627													A	2156625	G	A	2156625	2	1	270	1	0	0	0	0	0	0	0	1	7572	1049	37	1		1	IGF2	11	2156625	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	377941	2156625	132849891	738	134238											
OR52K2	119774	broad.mit.edu	37	chr11	4471014	4471014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaccaagattggcatgGctgctgtggcccgggctgtg	14	11	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:4471014G>A	uc001lyz.1	+	1	445	c.445G>A	c.(445-447)GCT>ACT	p.A149T		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTGGCATGGCTGCTGTGGC	0.572													A	4471014	G	A	4471014	3	1	270	1	0	0	0	0	1	0	0	0	11124	1203	42	2	447	2	OR52K2	11	4471014	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2314389	4471014	130535502	739	134239											
OR51B5	282763	broad.mit.edu	37	chr11	5364477	5364477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgggaaaagcaggccGcacttccaatctccctgtga	11	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:5364477G>A	uc001map.1	-	1	278	c.278C>T	c.(277-279)GCG>GTG	p.A93V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.A93V	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		AAAGCAGGCCGCACTTCCAAT	0.557													A	5364477	G	A	5364477	3	1	270	1	0	0	0	0	1	0	0	0	11091	1087	38	1	664	1	OR51B5	11	5364477	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	893463	5364477	129642039	740	134240											
OR52B6	340980	broad.mit.edu	37	chr11	5602471	5602471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcctcactcagatgtTcttcattcacttcctcttca	5	14	7	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:5602471T>G	uc010qzi.1	+	1	365	c.365T>G	c.(364-366)TTC>TGC	p.F122C	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		ACTCAGATGTTCTTCATTCAC	0.522													G	5602471	T	G	5602471	3	3	270	1	0	0	0	0	1	0	0	0	11113	1783	62	5	367	5	OR52B6	11	5602471	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	237994	5602471	129404045	741	134241											
CNGA4	1262	broad.mit.edu	37	chr11	6265356	6265356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagttggacgtgaatgCtgaggcagctgagatcgccc	14	9	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:6265356C>G	uc001mco.2	+	6	1552	c.1445C>G	c.(1444-1446)GCT>GGT	p.A482G	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	482	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		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)		GACGTGAATGCTGAGGCAGCT	0.567													G	6265356	C	G	6265356	3	3	270	1	0	0	0	0	1	0	0	0	3599	797	28	5	1467	5	CNGA4	11	6265356	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	662885	6265356	128741160	742	134242											
OR10A4	283297	broad.mit.edu	37	chr11	6898745	6898745	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actcccatgttgaaccccatCatctacagctcaaggaataa	5	13	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:6898745C>T	uc010rat.1	+	1	867	c.867C>T	c.(865-867)ATC>ATT	p.I289I		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAACCCCATCATCTACAGCT	0.502													T	6898745	C	T	6898745	2	4	270	1	0	0	0	0	0	0	0	1	10892	816	29	4		4	OR10A4	11	6898745	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	633389	6898745	128107771	743	134243											
OR5P3	120066	broad.mit.edu	37	chr11	7847470	7847470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtagtatcctcagatAaccccaaaagagtaaactct	5	10	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:7847470A>G	uc010rbg.1	-	1	50	c.50T>C	c.(49-51)TTA>TCA	p.L17S		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCCTCAGATAACCCCAAAAG	0.343													G	7847470	A	G	7847470	3	3	270	1	0	0	0	0	1	0	0	0	11179	372	13	3	888	3	OR5P3	11	7847470	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	948725	7847470	127159046	744	134244											
ST5	6764	broad.mit.edu	37	chr11	8752324	8752324	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcctctcggcgaccttcCcatgctgatatcttctcccg	8	17	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:8752324C>T	uc001mgt.2	-	3	699	c.513G>A	c.(511-513)TGG>TGA	p.W171*	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Nonsense_Mutation_p.W171*|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Nonsense_Mutation_p.W171*	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	171					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCGACCTTCCCATGCTGATA	0.701													T	8752324	C	T	8752324	4	4	270	1	0	0	0	0	0	1	0	0	15219	624	22	4	2972	4	ST5	11	8752324	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	904854	8752324	126254192	745	134245											
ST5	6764	broad.mit.edu	37	chr11	8752514	8752514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggcgtctctcttgcacGccgaagggcttctgtccaaa	11	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:8752514G>A	uc001mgt.2	-	3	509	c.323C>T	c.(322-324)GCG>GTG	p.A108V	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.A108V|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.A108V	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	108					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTCTTGCACGCCGAAGGGCT	0.607													A	8752514	G	A	8752514	3	1	270	1	0	0	0	0	1	0	0	0	15219	1087	38	1	3162	1	ST5	11	8752514	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	190	8752514	126254002	746	134246											
ASCL3	56676	broad.mit.edu	37	chr11	8959358	8959358	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactcctctggcagatgatgGcggagctgggcgtagccttc	14	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:8959358G>T	uc001mhd.1	-	2	411	c.351C>A	c.(349-351)CGC>CGA	p.R117R		NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	ASCL3	116	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding				0				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GCAGATGATGGCGGAGCTGGG	0.542													T	8959358	G	T	8959358	2	4	270	1	0	0	0	0	0	0	0	1	1035	1190	42	5		5	ASCL3	11	8959358	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	206844	8959358	126047158	747	134247											
SPON1	10418	broad.mit.edu	37	chr11	14156978	14156978	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccaggtcgggccaaccActggtctgcgatcatcggag	12	13	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14156978A>G	uc001mle.2	+	7	1227	c.689A>G	c.(688-690)CAC>CGC	p.H230R		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	230	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CGGGCCAACCACTGGTCTGCG	0.512													G	14156978	A	G	14156978	3	3	270	1	0	0	0	0	1	0	0	0	15081	159	6	3	710	3	SPON1	11	14156978	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	5197620	14156978	120849538	748	134248											
RRAS2	22800	broad.mit.edu	37	chr11	14316397	14316397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaactcttcttgtcctgCtgtatccaaaactaaagaaa	4	11	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14316397C>T	uc001mlf.3	-	3	521	c.208G>A	c.(208-210)GCA>ACA	p.A70T	RRAS2_uc009ygq.2_5'UTR|RRAS2_uc010rco.1_Missense_Mutation_p.A76T	NM_012250	NP_036382	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	70	GTP (By similarity).					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1				Epithelial(150;0.203)		TCTTGTCCTGCTGTATCCAAA	0.403													T	14316397	C	T	14316397	3	4	270	1	0	0	0	0	1	0	0	0	13677	797	28	2	422	2	RRAS2	11	14316397	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	159419	14316397	120690119	749	134249											
PDE3B	5140	broad.mit.edu	37	chr11	14665715	14665715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtctgaggaacggctacGtgaagagctgcgtgagcccc	15	10	1	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14665715G>A	uc001mln.2	+	1	447	c.94G>A	c.(94-96)GTG>ATG	p.V32M	PDE3B_uc001mlm.2_Missense_Mutation_p.V32M|PDE3B_uc010rcr.1_Missense_Mutation_p.V32M|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	32					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						GAACGGCTACGTGAAGAGCTG	0.706													A	14665715	G	A	14665715	3	1	270	1	0	0	0	0	1	0	0	0	11638	1145	40	1	96	1	PDE3B	11	14665715	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	349318	14665715	120340801	750	134250											
PDE3B	5140	broad.mit.edu	37	chr11	14880640	14880640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatcatcatgctgcgtcaGcttggaatctatatctttct	6	9	6	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14880640G>A	uc001mln.2	+	13	2925	c.2572G>A	c.(2572-2574)GCT>ACT	p.A858T	PDE3B_uc010rcr.1_Missense_Mutation_p.A807T	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	858	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGCTGCGTCAGCTTGGAATCT	0.363													A	14880640	G	A	14880640	3	1	270	1	0	0	0	0	1	0	0	0	11638	971	34	2	2622	2	PDE3B	11	14880640	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	214925	14880640	120125876	751	134251											
PIK3C2A	5286	broad.mit.edu	37	chr11	17115867	17115867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgaagttcctgaaattcGtcaaatgttcggaagacaaa	9	6	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:17115867G>A	uc001mmq.3	-	27	4458	c.4392C>T	c.(4390-4392)GAC>GAT	p.D1464D	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.D1084D|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1464	PX.			D -> V (in Ref. 1; CAA73797).	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			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	CCTGAAATTCGTCAAATGTTC	0.338													A	17115867	G	A	17115867	2	1	270	1	0	0	0	0	0	0	0	1	11909	1136	40	1		1	PIK3C2A	11	17115867	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2235227	17115867	117890649	752	134252											
GTF2H1	2965	broad.mit.edu	37	chr11	18373881	18373883	+	In_Frame_Del	DEL	ATC	ATC	-													tgtgctaacctgcaggtattAtcatggtccaactccaatcc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:18373880_18373882TATC>T	uc001moi.2	+	11	1841_1843	c.1147_1149TATC>T	c.(1147-1149)tat>T	p.Y383del	GTF2H1_uc001moh.2_In_Frame_Del_p.Y383del|GTF2H1_uc009yhm.2_In_Frame_Del_p.Y267del	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	383					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						CTGCAGGTATTATCATGGTCCAA	0.369								Nucleotide excision repair (NER)					-	18373883	ATC	-	18373881	7	5	270	1	0	1	0	1	0	0	0	0	6860	449	16	0	1186	0	GTF2H1	11	18373881	In_Frame_Del	DEL	ATC	TCGA-HU-A4GN-01A-11D-A25D-08	1258014	18373881	116632635	753	134253											
SPTY2D1	144108	broad.mit.edu	37	chr11	18633956	18633956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcttccatttcagagtcGtattcatcatcatcgtcatc	4	11	6	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:18633956G>A	uc001moy.2	-	4	2007	c.1791C>T	c.(1789-1791)TAC>TAT	p.Y597Y	SPTY2D1_uc010rdi.1_Silent_p.Y597Y	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	597										breast(1)	1						TTTCAGAGTCGTATTCATCAT	0.378													A	18633956	G	A	18633956	2	1	270	1	0	0	0	0	0	0	0	1	15125	1140	40	1		1	SPTY2D1	11	18633956	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	260075	18633956	116372560	754	134254											
E2F8	79733	broad.mit.edu	37	chr11	19247354	19247354	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaccagacaaaatggactCtgcccccagggatgagcact	9	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:19247354C>A	uc001mpm.2	-	11	2473	c.1951G>T	c.(1951-1953)GAG>TAG	p.E651*	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Nonsense_Mutation_p.E651*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	651					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AAAATGGACTCTGCCCCCAGG	0.453													A	19247354	C	A	19247354	4	1	270	1	0	0	0	0	0	1	0	0	4873	922	32	5	664	5	E2F8	11	19247354	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	613398	19247354	115759162	755	134255											
NAV2	89797	broad.mit.edu	37	chr11	19955143	19955143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcgcatgctcaccacCgtgggccctgcttccagcag	11	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:19955143C>T	uc010rdm.1	+	8	1783	c.1422C>T	c.(1420-1422)ACC>ACT	p.T474T	NAV2_uc001mpp.2_Silent_p.T387T|NAV2_uc001mpr.3_Silent_p.T451T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	474						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGCTCACCACCGTGGGCCCTG	0.602													T	19955143	C	T	19955143	2	4	270	1	0	0	0	0	0	0	0	1	10184	639	23	1		1	NAV2	11	19955143	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	707789	19955143	115051373	756	134256											
PRMT3	10196	broad.mit.edu	37	chr11	20515777	20515777	+	Frame_Shift_Del	DEL	A	A	-													acaaacagtatttctactggAaaaaccattttcagttaaag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:20515776_20515776GA>G	uc001mqb.3	+	14	1679	c.1462_1462GA>G	c.(1462-1464)gaafs	p.E488fs	PRMT3_uc001mqc.3_Frame_Shift_Del_p.E411fs|PRMT3_uc010rdn.2_Frame_Shift_Del_p.E426fs	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	488							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ATTTCTACTGGAAAAACCATT	0.373													-	20515777	A	-	20515777	7	5	270	1	0	1	0	1	0	0	0	0	12538	246	9	0	1521	0	PRMT3	11	20515777	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	560634	20515777	114490739	757	134257											
SLC5A12	159963	broad.mit.edu	37	chr11	26743064	26743064	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaggggtccccaggacCgtgacagctgacatgaagct	13	11	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:26743064C>A	uc001mra.2	-	1	511	c.198G>T	c.(196-198)ACG>ACT	p.T66T	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Silent_p.T66T	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	66	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TCCCCAGGACCGTGACAGCTG	0.512													A	26743064	C	A	26743064	2	1	270	1	0	0	0	0	0	0	0	1	14664	639	23	5		5	SLC5A12	11	26743064	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6227287	26743064	108263452	758	134258											
DCDC1	341019	broad.mit.edu	37	chr11	31131854	31131855	+	Frame_Shift_Ins	INS	-	-	T													gggctatccgatcccaaatcINSttttttactgataccaacag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:31131854_31131855insT	uc001msu.1	-	12	1629_1630	c.396_397insA	c.(394-399)AAAGATfs	p.K132fs	uc009yjl.1_5'UTR			P59894	DCDC1_HUMAN	SubName: Full=Putative uncharacterized protein ENSP00000343496;	Error:Variant_position_missing_in_P59894_after_alignment					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					GATCCCAAATCTTTTTTACTGA	0.297													T	31131855	-	T	31131854	7	5	270	1	0	1	1	0	0	0	0	0	4284	928	32	0		0	DCDC1	11	31131854	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	4388790	31131854	103874662	759	134259											
EIF3M	10480	broad.mit.edu	37	chr11	32611130	32611130	+	Frame_Shift_Del	DEL	A	A	-													tgactggaatctcaccactgAaaaaaagcacacccttttaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:32611129_32611129GA>G	uc001mtu.3	+	4	518	c.475_475GA>G	c.(475-477)gaafs	p.E159fs	EIF3M_uc010ref.2_Frame_Shift_Del_p.E27fs	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	159						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TCTCACCACTGAAAAAAAGCA	0.328													-	32611130	A	-	32611130	7	5	270	1	0	1	0	1	0	0	0	0	5023	246	9	0	494	0	EIF3M	11	32611130	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	1479276	32611130	102395386	760	134260											
NAT10	55226	broad.mit.edu	37	chr11	34165024	34165024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggacgatgaagagtggaAtgaagttttgaacaaagctg	15	3	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:34165024A>G	uc001mvk.2	+	28	3162	c.2918A>G	c.(2917-2919)AAT>AGT	p.N973S	NAT10_uc010ren.1_Missense_Mutation_p.N901S	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	973	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAGAGTGGAATGAAGTTTTG	0.483													G	34165024	A	G	34165024	3	3	270	1	0	0	0	0	1	0	0	0	10174	101	4	3	3024	3	NAT10	11	34165024	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1553894	34165024	100841492	761	134261											
FJX1	24147	broad.mit.edu	37	chr11	35641134	35641134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgcagtgggacccgcGcgtcatgcagcgtgccacca	13	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:35641134G>A	uc001mwh.2	+	1	1400	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	317						extracellular space					0	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)				TGGGACCCGCGCGTCATGCAG	0.622													A	35641134	G	A	35641134	3	1	270	1	0	0	0	0	1	0	0	0	5901	1087	38	1	952	1	FJX1	11	35641134	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1476110	35641134	99365382	762	134262											
TRAF6	7189	broad.mit.edu	37	chr11	36511400	36511400	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcaagctatacccctgcAtcagtacttcgtggctgaaa	10	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:36511400A>G	uc001mwr.1	-	8	1897	c.1557T>C	c.(1555-1557)GAT>GAC	p.D519D	uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Silent_p.D519D	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	519					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			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				ATACCCCTGCATCAGTACTTC	0.478													G	36511400	A	G	36511400	2	3	270	1	0	0	0	0	0	0	0	1	16442	214	8	3		3	TRAF6	11	36511400	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	870266	36511400	98495116	763	134263											
RAG2	5897	broad.mit.edu	37	chr11	36614195	36614195	+	Frame_Shift_Del	DEL	T	T	-													gtcaagatttttccagaaccTtttttacggagggatttcat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:36614194_36614194CT>C	uc021qge.1	-	0	1525	c.1525_1525AG>G	c.(1525-1527)ggtfs	p.G509fs	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Frame_Shift_Del_p.G509fs|RAG2_uc021qgd.1_Frame_Shift_Del_p.G509fs|RAG2_uc001mwv.4_Frame_Shift_Del_p.G509fs|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	509					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin 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)				TTTCCAGAACCTTTTTTACGG	0.398									Familial Hemophagocytic Lymphohistiocytosis				-	36614195	T	-	36614195	7	5	270	1	0	1	0	1	0	0	0	0	13005	1606	56	0	63	0	RAG2	11	36614195	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	102795	36614195	98392321	764	134264											
PEX16	9409	broad.mit.edu	37	chr11	45935924	45935924	+	Frame_Shift_Del	DEL	G	G	-													gatggtctcctgcagccccaGgggggtgggggtcgcactca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:45935923_45935923AG>A	uc001nbt.3	-	6	950	c.638_638CT>T	c.(637-639)ctgfs	p.L213fs	PEX16_uc001nbu.3_Frame_Shift_Del_p.L213fs	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	213					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGCAGCCCCAGGGGGGTGGG	0.672													-	45935924	G	-	45935924	7	5	270	1	0	1	0	1	0	0	0	0	11743	991	35	0	486	0	PEX16	11	45935924	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	9321729	45935924	89070592	765	134265											
F2	2147	broad.mit.edu	37	chr11	46744794	46744794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatcacccggtcaggcatTgagtgccagctatggaggag	13	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:46744794T>C	uc001ndf.3	+	5	424	c.381T>C	c.(379-381)ATT>ATC	p.I127I	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	127	Kringle 1.				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			ovary(3)	3		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)	GGTCAGGCATTGAGTGCCAGC	0.607													C	46744794	T	C	46744794	2	2	270	1	0	0	0	0	0	0	0	1	5342	1800	63	3		3	F2	11	46744794	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	808870	46744794	88261722	766	134266											
F2	2147	broad.mit.edu	37	chr11	46747450	46747450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgatgactccacgctccgaaGgctccagtgtgaatctgtca	10	13	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:46747450G>T	uc001ndf.3	+	7	644	c.601G>T	c.(601-603)GGC>TGC	p.G201C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	201					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			ovary(3)	3		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)	ACGCTCCGAAGGCTCCAGTGT	0.493													T	46747450	G	T	46747450	3	4	270	1	0	0	0	0	1	0	0	0	5342	1000	35	5	627	5	F2	11	46747450	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2656	46747450	88259066	767	134267											
MADD	8567	broad.mit.edu	37	chr11	47311500	47311500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaacatgaaaaaggtgCgccggctgctggagagcgag	16	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:47311500C>T	uc001ner.1	+	18	3090	c.2899C>T	c.(2899-2901)CGC>TGC	p.R967C	MADD_uc001neq.2_Missense_Mutation_p.R947C|MADD_uc001nev.1_Missense_Mutation_p.R904C|MADD_uc001nes.1_Missense_Mutation_p.R924C|MADD_uc001net.1_Missense_Mutation_p.R967C|MADD_uc009yln.1_Missense_Mutation_p.R904C|MADD_uc001neu.1_Missense_Mutation_p.R904C|MADD_uc001nex.2_Missense_Mutation_p.R967C|MADD_uc001nez.2_Missense_Mutation_p.R904C|MADD_uc001new.2_Missense_Mutation_p.R947C|MADD_uc009ylo.2_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	967					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			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		GAAAAAGGTGCGCCGGCTGCT	0.607													T	47311500	C	T	47311500	3	4	270	1	0	0	0	0	1	0	0	0	9152	768	27	1	2965	1	MADD	11	47311500	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	564050	47311500	87695016	768	134268											
PTPRJ	5795	broad.mit.edu	37	chr11	48166268	48166268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgaaatacacgtatgagGatttcaaaaagggagcctca	9	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:48166268G>A	uc001ngp.3	+	13	2972	c.2617G>A	c.(2617-2619)GAT>AAT	p.D873N		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	873	Extracellular (Potential).|Fibronectin type-III 9.				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)|kidney(3)|ovary(1)|skin(1)	8						CACGTATGAGGATTTCAAAAA	0.398													A	48166268	G	A	48166268	3	1	270	1	0	0	0	0	1	0	0	0	12804	1174	41	4	2676	4	PTPRJ	11	48166268	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	854768	48166268	86840248	769	134269											
OR4C12	283093	broad.mit.edu	37	chr11	50003327	50003327	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actatgatgtgagaaatacaGgtggagagggctttacacct	12	6	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:50003327G>T	uc010ria.1	-	1	711	c.711C>A	c.(709-711)ACC>ACA	p.T237T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	237	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GAGAAATACAGGTGGAGAGGG	0.413													T	50003327	G	T	50003327	2	4	270	1	0	0	0	0	0	0	0	1	11046	987	35	5		5	OR4C12	11	50003327	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1837059	50003327	85003189	770	134270											
OR4C16	219428	broad.mit.edu	37	chr11	55339694	55339694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtttgttatttttttgCgtctctacttgggaacactg	9	6	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:55339694C>T	uc010rih.1	+	1	91	c.91C>T	c.(91-93)CGT>TGT	p.R31C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				TATTTTTTTGCGTCTCTACTT	0.373													T	55339694	C	T	55339694	3	4	270	1	0	0	0	0	1	0	0	0	11049	768	27	1	93	1	OR4C16	11	55339694	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5336367	55339694	79666822	771	134271											
OR8I2	120586	broad.mit.edu	37	chr11	55860792	55860792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttgatgtaaatggctggCaacaatttcactgaggttac	11	6	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:55860792C>T	uc010rix.1	+	1	9	c.9C>T	c.(7-9)GGC>GGT	p.G3G		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					AAATGGCTGGCAACAATTTCA	0.368													T	55860792	C	T	55860792	2	4	270	1	0	0	0	0	0	0	0	1	11240	697	25	2		2	OR8I2	11	55860792	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	521098	55860792	79145724	772	134272											
OR8J1	219477	broad.mit.edu	37	chr11	56128400	56128400	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatattgttttgtctattttAaaaatatgttcatcagaagg	6	3	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:56128400A>G	uc010rjh.1	+	1	678	c.678A>G	c.(676-678)TTA>TTG	p.L226L		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTCTATTTTAAAAATATGTT	0.323													G	56128400	A	G	56128400	2	3	270	1	0	0	0	0	0	0	0	1	11241	359	13	3		3	OR8J1	11	56128400	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	267608	56128400	78878116	773	134273											
OR5AR1	219493	broad.mit.edu	37	chr11	56431207	56431207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactgagtttatcttcatgGgcatcacccaggaccctcag	9	12	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:56431207G>T	uc010rjm.1	+	1	46	c.46G>T	c.(46-48)GGC>TGC	p.G16C		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATCTTCATGGGCATCACCCA	0.373													T	56431207	G	T	56431207	3	4	270	1	0	0	0	0	1	0	0	0	11145	1232	43	5	48	5	OR5AR1	11	56431207	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	302807	56431207	78575309	774	134274											
OR5AR1	219493	broad.mit.edu	37	chr11	56431861	56431861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcgttcagctgaaggcCgccttaaggctttctccacc	10	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:56431861C>T	uc010rjm.1	+	1	700	c.700C>T	c.(700-702)CGC>TGC	p.R234C		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCTGAAGGCCGCCTTAAGGC	0.483													T	56431861	C	T	56431861	3	4	270	1	0	0	0	0	1	0	0	0	11145	652	23	1	702	1	OR5AR1	11	56431861	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	654	56431861	78574655	775	134275											
P2RX3	5024	broad.mit.edu	37	chr11	57135559	57135559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttggcatccgcttcgacGtgctggtatacgggaatgtg	13	9	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:57135559G>A	uc001nju.2	+	9	995	c.919G>A	c.(919-921)GTG>ATG	p.V307M		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	307	Extracellular (Potential).				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				0						CCGCTTCGACGTGCTGGTATA	0.572													A	57135559	G	A	57135559	3	1	270	1	0	0	0	0	1	0	0	0	11341	1145	40	1	953	1	P2RX3	11	57135559	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	703698	57135559	77870957	776	134276											
RTN4RL2	349667	broad.mit.edu	37	chr11	57243698	57243698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgggaaccgcctgcggCtgctcacagagcacgtgttt	12	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:57243698C>T	uc010rjt.1	+	3	577	c.577C>T	c.(577-579)CTG>TTG	p.L193L		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	193	LRR 6.				axon regeneration	anchored to plasma membrane	receptor activity				0						CCGCCTGCGGCTGCTCACAGA	0.682													T	57243698	C	T	57243698	2	4	270	1	0	0	0	0	0	0	0	1	13732	796	28	2		2	RTN4RL2	11	57243698	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	108139	57243698	77762818	777	134277											
CTNND1	1500	broad.mit.edu	37	chr11	57569589	57569589	+	Frame_Shift_Del	DEL	A	A	-													caggataacaagattgccatAaaaaactgtgatggtgtgcc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:57569588_57569588TA>T	uc001nmc.4	+	6	1911	c.1340_1340TA>T	c.(1339-1341)atafs	p.I447fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.I447fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlx.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlz.4_Frame_Shift_Del_p.I124fs|CTNND1_uc009ymn.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nly.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmb.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nma.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmd.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.I447fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	447					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	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)				AAGATTGCCATAAAAAACTGT	0.468													-	57569589	A	-	57569589	7	5	270	1	0	1	0	1	0	0	0	0	4019	352	13	0	1359	0	CTNND1	11	57569589	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	325891	57569589	77436927	778	134278											
OR5B21	219968	broad.mit.edu	37	chr11	58275342	58275342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaccgcaatgcagccacCgttttgggggctacagctga	12	13	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:58275342C>T	uc010rki.1	-	1	237	c.237G>A	c.(235-237)ACG>ACA	p.T79T		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T79M(1)		ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCAGCCACCGTTTTGGGGG	0.517													T	58275342	C	T	58275342	2	4	270	1	0	0	0	0	0	0	0	1	11151	639	23	1		1	OR5B21	11	58275342	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	705753	58275342	76731174	779	134279											
FAM111B	374393	broad.mit.edu	37	chr11	58892722	58892725	+	Frame_Shift_Del	DEL	AATT	AATT	-													ctggatgtccaaaaggaggcAattaatctcttaaagaatta							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:58892721_58892724CAATT>C	uc001nnl.3	+	3	1394_1397	c.1151_1154CAATT>C	c.(1150-1155)gcaattfs	p.A384fs	FAM111B_uc001nnm.3_Frame_Shift_Del_p.A354fs|FAM111B_uc010rko.2_Frame_Shift_Del_p.A354fs|FAM111B_uc021qjn.1_Frame_Shift_Del_p.A354fs	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	384							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						CAAAAGGAGGCAATTAATCTCTTA	0.397													-	58892725	AATT	-	58892722	7	5	270	1	0	1	0	1	0	0	0	0	5400	117	5	0	1158	0	FAM111B	11	58892722	Frame_Shift_Del	DEL	AATT	TCGA-HU-A4GN-01A-11D-A25D-08	617380	58892722	76113794	780	134280											
TMEM109	79073	broad.mit.edu	37	chr11	60689494	60689494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccttgctgatcctctacGccctgctgagccggctcact	10	16	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:60689494G>A	uc001nqg.2	+	4	967	c.589G>A	c.(589-591)GCC>ACC	p.A197T	TMEM109_uc001nqh.2_Missense_Mutation_p.A197T|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	197	Helical; (Potential).					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						GATCCTCTACGCCCTGCTGAG	0.677													A	60689494	G	A	60689494	3	1	270	1	0	0	0	0	1	0	0	0	16022	1087	38	1	599	1	TMEM109	11	60689494	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1796772	60689494	74317022	781	134281											
DAGLA	747	broad.mit.edu	37	chr11	61498870	61498870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcccatgtacctgatgCggaagcccgcctgcggcctc	14	15	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:61498870C>T	uc001nsa.2	+	9	1042	c.931C>T	c.(931-933)CGG>TGG	p.R311W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	311	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GTACCTGATGCGGAAGCCCGC	0.617													T	61498870	C	T	61498870	3	4	270	1	0	0	0	0	1	0	0	0	4226	759	27	1	961	1	DAGLA	11	61498870	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	809376	61498870	73507646	782	134282											
INCENP	3619	broad.mit.edu	37	chr11	61916012	61916012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgcagagggaactggagGagaagaagaagaaggtgagg	19	3	0	6			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:61916012G>A	uc001nsw.1	+	16	2471	c.2269G>A	c.(2269-2271)GAG>AAG	p.E757K	INCENP_uc009ynw.1_Missense_Mutation_p.E761K|INCENP_uc001nsx.1_Missense_Mutation_p.E753K|INCENP_uc001nsy.1_Missense_Mutation_p.E171K	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	757	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GGAACTGGAGGAGAAGAAGAA	0.637													A	61916012	G	A	61916012	3	1	270	1	0	0	0	0	1	0	0	0	7733	1175	41	4	2327	4	INCENP	11	61916012	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	417142	61916012	73090504	783	134283											
AHNAK	79026	broad.mit.edu	37	chr11	62290571	62290571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacttcaggacccttgaggTcaccttccattttgggcaga	9	12	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:62290571T>C	uc001ntl.2	-	5	11618	c.11318A>G	c.(11317-11319)GAC>GGC	p.D3773G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3773					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ACCCTTGAGGTCACCTTCCAT	0.498													C	62290571	T	C	62290571	3	2	270	1	0	0	0	0	1	0	0	0	414	1667	58	3	6474	3	AHNAK	11	62290571	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	374559	62290571	72715945	784	134284											
AHNAK	79026	broad.mit.edu	37	chr11	62290971	62290971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcacgtctggaacatcaaCgtctacattgggaccagaaa	8	10	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:62290971C>T	uc001ntl.2	-	5	11218	c.10918G>A	c.(10918-10920)GTT>ATT	p.V3640I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3640					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGAACATCAACGTCTACATTG	0.483													T	62290971	C	T	62290971	3	4	270	1	0	0	0	0	1	0	0	0	414	536	19	1	6874	1	AHNAK	11	62290971	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	400	62290971	72715545	785	134285											
ROM1	6094	broad.mit.edu	37	chr11	62381147	62381147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgggagtctggatgagGcgctggaggagggcctggtg	21	7	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:62381147G>A	uc001ntv.2	+	1	935	c.394G>A	c.(394-396)GCG>ACG	p.A132T	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	132	Lumenal (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TCTGGATGAGGCGCTGGAGGA	0.672													A	62381147	G	A	62381147	3	1	270	1	0	0	0	0	1	0	0	0	13521	1203	42	2	396	2	ROM1	11	62381147	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	90176	62381147	72625369	786	134286											
MARK2	2011	broad.mit.edu	37	chr11	63667438	63667440	+	In_Frame_Del	DEL	CTT	CTT	-													tttgggaacaagctggacacCttctgtggcagtccccctta							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:63667437_63667439CCTT>C	uc001nxw.3	+	7	1202_1204	c.623_625CCTT>C	c.(622-627)accttc>aCtc	p.F209del	MARK2_uc001nxv.4_In_Frame_Del_p.F209del|MARK2_uc001nxx.3_In_Frame_Del_p.F209del|MARK2_uc001nxy.3_In_Frame_Del_p.F209del|MARK2_uc001nxz.4_In_Frame_Del_p.F176del|MARK2_uc009yoy.3_In_Frame_Del_p.F176del	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	209	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						AAGCTGGACACCTTCTGTGGCAG	0.493													-	63667440	CTT	-	63667438	7	5	270	1	0	1	0	1	0	0	0	0	9313	668	24	0	654	0	MARK2	11	63667438	In_Frame_Del	DEL	CTT	TCGA-HU-A4GN-01A-11D-A25D-08	1286291	63667438	71339078	787	134287											
PYGM	5837	broad.mit.edu	37	chr11	64522266	64522266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagggtggcagccaccaCgaaatactcctgcttcagcc	11	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:64522266C>T	uc001oax.3	-	8	1715	c.898G>A	c.(898-900)GTG>ATG	p.V300M	PYGM_uc001oay.3_Missense_Mutation_p.V212M	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	300					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GCAGCCACCACGAAATACTCC	0.597													T	64522266	C	T	64522266	3	4	270	1	0	0	0	0	1	0	0	0	12862	536	19	1	1682	1	PYGM	11	64522266	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	854828	64522266	70484250	788	134288											
SPDYC	387778	broad.mit.edu	37	chr11	64940678	64940678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagcctccggcacgccCtgggcactgaagctctgcag	11	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:64940678C>A	uc010rnz.1	+	7	872	c.872C>A	c.(871-873)CCT>CAT	p.P291H		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	291					cell cycle	nucleus	protein kinase binding				0						CCGGCACGCCCTGGGCACTGA	0.637													A	64940678	C	A	64940678	3	1	270	1	0	0	0	0	1	0	0	0	15027	681	24	5	898	5	SPDYC	11	64940678	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	418412	64940678	70065838	789	134289											
TIGD3	220359	broad.mit.edu	37	chr11	65124594	65124594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgccctccgggccctgGgcaccttgaggaggtggttt	15	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:65124594G>T	uc001odo.3	+	2	1478	c.1315G>T	c.(1315-1317)GGC>TGC	p.G439C		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	439					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CCGGGCCCTGGGCACCTTGAG	0.557													T	65124594	G	T	65124594	3	4	270	1	0	0	0	0	1	0	0	0	15894	1232	43	5	1317	5	TIGD3	11	65124594	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	183916	65124594	69881922	790	134290											
DKFZp761E198	91056	broad.mit.edu	37	chr11	65547054	65547054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttgaagagtgccggtgGctgtccctgcagaccccgca	14	14	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:65547054G>A	uc001ofo.3	-	1	769	c.739C>T	c.(739-741)CCA>TCA	p.P247S		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	247	Leu-rich.						protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		AGTGCCGGTGGCTGTCCCTGC	0.652													A	65547054	G	A	65547054	3	1	270	1	0	0	0	0	1	0	0	0	4543	1203	42	2	1730	2	DKFZp761E198	11	65547054	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	422460	65547054	69459462	791	134291											
SF3B2	10992	broad.mit.edu	37	chr11	65826406	65826406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagactcaacccggtccCgtggctctgattccccagca	9	15	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:65826406C>T	uc001ogy.1	+	10	1112	c.1072C>T	c.(1072-1074)CGT>TGT	p.R358C		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	358					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						AACCCGGTCCCGTGGCTCTGA	0.517													T	65826406	C	T	65826406	3	4	270	1	0	0	0	0	1	0	0	0	14151	652	23	1	1110	1	SF3B2	11	65826406	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	279352	65826406	69180110	792	134292											
CD248	57124	broad.mit.edu	37	chr11	66082358	66082358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttgttgggtgcatgggggCcacagcgggtgcagtacacg	18	9	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:66082358C>G	uc001ohm.1	-	1	2158	c.2141G>C	c.(2140-2142)GGC>GCC	p.G714A		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	714	Cytoplasmic (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TGCATGGGGGCCACAGCGGGT	0.622													G	66082358	C	G	66082358	3	3	270	1	0	0	0	0	1	0	0	0	2989	739	26	5	136	5	CD248	11	66082358	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	255952	66082358	68924158	793	134293											
BRMS1	25855	broad.mit.edu	37	chr11	66108714	66108714	+	Frame_Shift_Del	DEL	C	C	-													atcttgaggctccgctgcagCcccccaaggggctccgtgta							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:66108713_66108713GC>G	uc001oho.1	-	3	469	c.322_322GC>C	c.(322-324)ctgfs	p.L108fs	BRMS1_uc001ohp.1_Frame_Shift_Del_p.L108fs|BRMS1_uc009yre.3_5'Flank	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	108					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|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						CTCCGCTGCAGCCCCCCAAGG	0.627													-	66108714	C	-	66108714	7	5	270	1	0	1	0	1	0	0	0	0	1516	726	26	0	591	0	BRMS1	11	66108714	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	26356	66108714	68897802	794	134294											
RBM4	5936	broad.mit.edu	37	chr11	66410970	66410970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccggcttaggactgcgccCgggatgggagaccagagcgg	18	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:66410970C>T	uc009yrj.2	+	3	950	c.462C>T	c.(460-462)CCC>CCT	p.P154P	RBM4_uc009yrk.2_Silent_p.P129P|RBM4_uc001oiw.1_Silent_p.P154P|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.P154P|RBM4_uc001oiz.1_Silent_p.P154P	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	154					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GGACTGCGCCCGGGATGGGAG	0.582													T	66410970	C	T	66410970	2	4	270	1	0	0	0	0	0	0	0	1	13134	639	23	1		1	RBM4	11	66410970	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	302256	66410970	68595546	795	134295											
IGHMBP2	3508	broad.mit.edu	37	chr11	68675625	68675625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcaggtgatatcgtggGcctgtacgatgctgctaatg	13	7	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:68675625G>A	uc001ook.1	+	3	371	c.269G>A	c.(268-270)GGC>GAC	p.G90D	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	90					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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GATATCGTGGGCCTGTACGAT	0.473													A	68675625	G	A	68675625	3	1	270	1	0	0	0	0	1	0	0	0	7591	1203	42	2	279	2	IGHMBP2	11	68675625	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2264655	68675625	66330891	796	134296											
IGHMBP2	3508	broad.mit.edu	37	chr11	68679004	68679004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttgccatcatccatggacCtcctggcactgggaaaacca	8	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:68679004C>A	uc001ook.1	+	5	746	c.644C>A	c.(643-645)CCT>CAT	p.P215H	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	215	ATP (By similarity).				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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCCATGGACCTCCTGGCACT	0.512													A	68679004	C	A	68679004	3	1	270	1	0	0	0	0	1	0	0	0	7591	681	24	5	662	5	IGHMBP2	11	68679004	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3379	68679004	66327512	797	134297											
TPCN2	219931	broad.mit.edu	37	chr11	68854605	68854605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacaagtgggacccccGcagccacctgcagccccttg	9	19	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:68854605G>A	uc001oos.2	+	24	2227	c.2111G>A	c.(2110-2112)CGC>CAC	p.R704H	TPCN2_uc010rqg.1_Missense_Mutation_p.R522H|TPCN2_uc001oot.2_RNA	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	704	Cytoplasmic (Potential).				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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGGACCCCCGCAGCCACCTG	0.642													A	68854605	G	A	68854605	3	1	270	1	0	0	0	0	1	0	0	0	16393	1087	38	1	2205	1	TPCN2	11	68854605	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	175601	68854605	66151911	798	134298											
ANO1	55107	broad.mit.edu	37	chr11	70007369	70007369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgtgcggtccaacatcCgggtcacagtcacagccacc	9	18	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:70007369C>T	uc001opj.2	+	17	1986	c.1681C>T	c.(1681-1683)CGG>TGG	p.R561W	ANO1_uc001opk.1_Missense_Mutation_p.R503W|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R270W	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GTCCAACATCCGGGTCACAGT	0.587													T	70007369	C	T	70007369	3	4	270	1	0	0	0	0	1	0	0	0	695	643	23	1	1747	1	ANO1	11	70007369	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1152764	70007369	64999147	799	134299											
SHANK2	22941	broad.mit.edu	37	chr11	70319246	70319246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggatggcgacctactgcGtcccgctgggttcaagccaa	15	12	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:70319246G>A	uc001oqc.2	-	22	5356	c.5278C>T	c.(5278-5280)CGC>TGC	p.R1760C	SHANK2_uc010rqn.1_Missense_Mutation_p.R1172C|SHANK2_uc001opz.2_Missense_Mutation_p.R1165C|uc009ysn.1_Missense_Mutation_p.R49H|SHANK2_uc001opy.2_Missense_Mutation_p.R96C	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1381					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GACCTACTGCGTCCCGCTGGG	0.547													A	70319246	G	A	70319246	3	1	270	1	0	0	0	0	1	0	0	0	14265	1145	40	1	275	1	SHANK2	11	70319246	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	311877	70319246	64687270	800	134300											
ARHGEF17	9828	broad.mit.edu	37	chr11	73068356	73068356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagctgccgctggaagaCgcagacatcatcaaaggtgg	14	9	2	2	rs144162252		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:73068356C>T	uc001otu.2	+	9	4092	c.4071C>T	c.(4069-4071)GAC>GAT	p.D1357D		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1357					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				0						CGCTGGAAGACGCAGACATCA	0.592													T	73068356	C	T	73068356	2	4	270	1	0	0	0	0	0	0	0	1	900	535	19	1		1	ARHGEF17	11	73068356	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2749110	73068356	61938160	801	134301											
SYTL2	54843	broad.mit.edu	37	chr11	85445200	85445200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttgattgatgaaaaagcGaaggctttctgtattgagaa	12	3	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:85445200G>A	uc010rth.1	-	6	1445	c.1169C>T	c.(1168-1170)TCG>TTG	p.S390L	SYTL2_uc010rtg.1_Missense_Mutation_p.S391L|SYTL2_uc010rti.1_Missense_Mutation_p.S390L|SYTL2_uc010rtj.1_Missense_Mutation_p.S342L|SYTL2_uc001pbf.3_Missense_Mutation_p.S390L|SYTL2_uc010rtf.1_Missense_Mutation_p.S248L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	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			ovary(2)|large_intestine(1)	3		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)		ATGAAAAAGCGAAGGCTTTCT	0.398													A	85445200	G	A	85445200	3	1	270	1	0	0	0	0	1	0	0	0	15480	1059	37	1	4168	1	SYTL2	11	85445200	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	12376844	85445200	49561316	802	134302											
GRM5	2915	broad.mit.edu	37	chr11	88386441	88386441	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggtttcggtggtttgTttctggccggagcttcagat	14	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:88386441T>G	uc001pcq.2	-	3	1242	c.1042A>C	c.(1042-1044)ACA>CCA	p.T348P	GRM5_uc009yvm.2_Missense_Mutation_p.T348P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	348	Extracellular (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGGTGGTTTGTTTCTGGCCGG	0.458													G	88386441	T	G	88386441	3	3	270	1	0	0	0	0	1	0	0	0	6800	1725	60	5	2624	5	GRM5	11	88386441	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2941241	88386441	46620075	803	134303											
TAF1D	79101	broad.mit.edu	37	chr11	93470382	93470382	+	Frame_Shift_Del	DEL	A	A	-													ttcagtttttcaatatagttAaaaaatcctcttgcaacagc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:93470381_93470381TA>T	uc001ped.3	-	3	727	c.484_484TA>A	c.(484-486)aacfs	p.N162fs	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript|SNORA40_uc009ywh.3_5'Flank	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCAATATAGTTAAAAAATCCT	0.333													-	93470382	A	-	93470382	7	5	270	1	0	1	0	1	0	0	0	0	15519	359	13	0	365	0	TAF1D	11	93470382	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	5083941	93470382	41536134	804	134304											
MAML2	84441	broad.mit.edu	37	chr11	95712334	95712334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaggaaaattgctgggCgtcagggatggtggctggtt	19	4	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:95712334C>T	uc001pfw.1	-	5	4534	c.3249G>A	c.(3247-3249)ACG>ACA	p.T1083T		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1083					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AATTGCTGGGCGTCAGGGATG	0.478			T	MECT1|CRTC3	salivary gland mucoepidermoid								T	95712334	C	T	95712334	2	4	270	1	0	0	0	0	0	0	0	1	9206	755	27	1		1	MAML2	11	95712334	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2241952	95712334	39294182	805	134305											
CNTN5	53942	broad.mit.edu	37	chr11	99827584	99827584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcccttcctttgtggcGgaagacagccggcggttcat	13	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:99827584G>A	uc001pga.2	+	8	1059	c.720G>A	c.(718-720)GCG>GCA	p.A240A	CNTN5_uc009ywv.1_Silent_p.A240A|CNTN5_uc001pfz.2_Silent_p.A240A|CNTN5_uc001pgb.2_Silent_p.A166A	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	240	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		CCTTTGTGGCGGAAGACAGCC	0.393													A	99827584	G	A	99827584	2	1	270	1	0	0	0	0	0	0	0	1	3644	1103	39	1		1	CNTN5	11	99827584	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4115250	99827584	35178932	806	134306											
CUL5	8065	broad.mit.edu	37	chr11	107920713	107920713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatattttaccaaaacctTtttgtcaactagagattact	5	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:107920713T>C	uc001pjv.2	+	4	998	c.331T>C	c.(331-333)TTT>CTT	p.F111L	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	111					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			ovary(1)	1		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)		ACCAAAACCTTTTTGTCAACT	0.348													C	107920713	T	C	107920713	3	2	270	1	0	0	0	0	1	0	0	0	4059	1841	64	3	345	3	CUL5	11	107920713	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	8093129	107920713	27085803	807	134307											
ACAT1	38	broad.mit.edu	37	chr11	108017007	108017007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttagtctggttgtactaGcaaacattaaaatgttggag	9	6	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:108017007G>A	uc001pjy.2	+	11	1160	c.1084G>A	c.(1084-1086)GCA>ACA	p.A362T		NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	362					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|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;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GGTTGTACTAGCAAACATTAA	0.333													A	108017007	G	A	108017007	3	1	270	1	0	0	0	0	1	0	0	0	121	971	34	2	1126	2	ACAT1	11	108017007	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	96294	108017007	26989509	808	134308											
DDX10	1662	broad.mit.edu	37	chr11	108712180	108712180	+	Frame_Shift_Del	DEL	A	A	-													ttgacaaagaagaatataggAaaaaaattaaggcaaagcat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:108712179_108712179GA>G	uc001pkm.3	+	14	2288	c.2223_2223GA>G	c.(2221-2223)aggfs	p.R741fs	DDX10_uc001pkl.1_Frame_Shift_Del_p.R741fs	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	741							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)		AAGAATATAGGAAAAAAATTA	0.348			T	NUP98	AML*								-	108712180	A	-	108712180	7	5	270	1	0	1	0	1	0	0	0	0	4342	247	9	0	2282	0	DDX10	11	108712180	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	695173	108712180	26294336	809	134309											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035243	110035243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagcaccaaggctgataGcacttctgatgtcaaacgag	10	9	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:110035243G>T	uc009yxw.2	+	6	1484	c.1433G>T	c.(1432-1434)AGC>ATC	p.S478I	ZC3H12C_uc010rwc.1_Missense_Mutation_p.S479I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.S479I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.S447I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	478							endonuclease activity|nucleic acid binding|zinc ion binding				0		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)		AAGGCTGATAGCACTTCTGAT	0.468													T	110035243	G	T	110035243	3	4	270	1	0	0	0	0	1	0	0	0	17560	971	34	5	1455	5	ZC3H12C	11	110035243	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1323063	110035243	24971273	810	134310											
ANKK1	255239	broad.mit.edu	37	chr11	113268037	113268037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaggaaggtgtcctgCaagctgtcgctgcgccagcc	14	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:113268037C>T	uc001pny.2	+	6	1024	c.930C>T	c.(928-930)TGC>TGT	p.C310C		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	310							ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGGTGTCCTGCAAGCTGTCGC	0.592													T	113268037	C	T	113268037	2	4	270	1	0	0	0	0	0	0	0	1	631	718	25	2		2	ANKK1	11	113268037	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3232794	113268037	21738479	811	134311											
ANKK1	255239	broad.mit.edu	37	chr11	113270600	113270600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctagctgcacgccacGgggaggaggcggtggtgtca	17	11	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:113270600G>A	uc001pny.2	+	8	2003	c.1909G>A	c.(1909-1911)GGG>AGG	p.G637R		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	637	ANK 9.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGCACGCCACGGGGAGGAGGC	0.642													A	113270600	G	A	113270600	3	1	270	1	0	0	0	0	1	0	0	0	631	1116	39	1	1939	1	ANKK1	11	113270600	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2563	113270600	21735916	812	134312											
DSCAML1	57453	broad.mit.edu	37	chr11	117391911	117391911	+	Frame_Shift_Del	DEL	C	C	-													ggtagcgaagcactggtaggCcccggaatggctcttctggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:117391910_117391910GC>G	uc001prh.1	-	5	1330	c.1328_1328GC>C	c.(1327-1329)gccfs	p.A443fs	DSCAML1_uc001pri.1_Frame_Shift_Del_p.A247fs	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	383	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)		GCACTGGTAGGCCCCGGAATG	0.657													-	117391911	C	-	117391911	7	5	270	1	0	1	0	1	0	0	0	0	4769	739	26	0	5126	0	DSCAML1	11	117391911	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	4121311	117391911	17614605	813	134313											
VPS11	55823	broad.mit.edu	37	chr11	118941055	118941055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaactggattggcctttcGccaagcaggaaagaccactc	10	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:118941055G>A	uc010ryx.1	+	5	626	c.584G>A	c.(583-585)CGC>CAC	p.R195H	VPS11_uc010ryy.1_Missense_Mutation_p.R41H	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	195					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	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)		TTGGCCTTTCGCCAAGCAGGA	0.522													A	118941055	G	A	118941055	3	1	270	1	0	0	0	0	1	0	0	0	17185	1087	38	1	597	1	VPS11	11	118941055	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1549144	118941055	16065461	814	134314											
CCDC153	283152	broad.mit.edu	37	chr11	119061043	119061043	+	Frame_Shift_Del	DEL	G	G	-													ctggtggcctcaaagatccaGggggggtgagtccaaactgg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:119061042_119061042AG>A	uc010rze.2	-	6	814	c.600_600CT>T	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGA	0.572													-	119061043	G	-	119061043	7	5	270	1	0	1	0	1	0	0	0	0	2787	1000	35	0	37	0	CCDC153	11	119061043	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	119988	119061043	15945473	815	134315											
THY1	7070	broad.mit.edu	37	chr11	119291018	119291018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgctggtattctcatggCggcagtccagacgaaggctc	12	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:119291018C>T	uc001pwq.2	-	2	150	c.116G>A	c.(115-117)CGC>CAC	p.R39H	uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.R39H|THY1_uc001pws.2_RNA	NM_006288	NP_006279	P04216	THY1_HUMAN	Thy-1 cell surface antigen preproprotein	39	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				0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		ATTCTCATGGCGGCAGTCCAG	0.597													T	119291018	C	T	119291018	3	4	270	1	0	0	0	0	1	0	0	0	15882	768	27	1	377	1	THY1	11	119291018	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	229975	119291018	15715498	816	134316											
TECTA	7007	broad.mit.edu	37	chr11	121016689	121016689	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagttaaccccaccttcttCtataagaactgcctgtttga	5	11	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121016689C>T	uc010rzo.1	+	11	3969	c.3969C>T	c.(3967-3969)TTC>TTT	p.F1323F		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1323					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CCACCTTCTTCTATAAGAACT	0.567													T	121016689	C	T	121016689	2	4	270	1	0	0	0	0	0	0	0	1	15744	912	32	4		4	TECTA	11	121016689	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1725671	121016689	13989827	817	134317											
TECTA	7007	broad.mit.edu	37	chr11	121037313	121037313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacattatcgatgcagagGtgacctgcaaagcagcccaa	10	10	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121037313G>T	uc010rzo.1	+	17	5410	c.5410G>T	c.(5410-5412)GTG>TTG	p.V1804L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1804					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CGATGCAGAGGTGACCTGCAA	0.502													T	121037313	G	T	121037313	3	4	270	1	0	0	0	0	1	0	0	0	15744	1261	44	5	5476	5	TECTA	11	121037313	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	20624	121037313	13969203	818	134318											
SORL1	6653	broad.mit.edu	37	chr11	121403215	121403215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacatggggagaccacggcGgaatcatcacggctattgcc	12	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121403215G>A	uc001pxx.2	+	12	1719	c.1639G>A	c.(1639-1641)GGA>AGA	p.G547R		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	547	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		AGACCACGGCGGAATCATCAC	0.483													A	121403215	G	A	121403215	3	1	270	1	0	0	0	0	1	0	0	0	14934	1117	39	1	1685	1	SORL1	11	121403215	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	365902	121403215	13603301	819	134319											
SORL1	6653	broad.mit.edu	37	chr11	121477994	121477994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaacactctatacaccGtcagagtgagtgtcgtcatc	9	11	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121477994G>A	uc001pxx.2	+	37	5241	c.5161G>A	c.(5161-5163)GTC>ATC	p.V1721I	SORL1_uc010rzp.1_Missense_Mutation_p.V567I|SORL1_uc010rzq.1_Missense_Mutation_p.V336I	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1721	Extracellular (Potential).|Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		TCTATACACCGTCAGAGTGAG	0.463													A	121477994	G	A	121477994	3	1	270	1	0	0	0	0	1	0	0	0	14934	1145	40	1	5307	1	SORL1	11	121477994	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	74779	121477994	13528522	820	134320											
SPA17	53340	broad.mit.edu	37	chr11	124545214	124545216	+	In_Frame_Del	DEL	TCT	TCT	-													attccacaaggatttgggaaTcttcttgaagggctgacacg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:124545213_124545215ATCT>A	uc001qap.3	+	1	189_191	c.53_55ATCT>A	c.(52-57)aatctt>aAtt	p.L20del	SIAE_uc001qan.3_5'Flank|SIAE_uc021qru.1_5'UTR|SIAE_uc001qao.2_5'Flank	NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	20					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	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;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GGATTTGGGAATCTTCTTGAAGG	0.438													-	124545216	TCT	-	124545214	7	5	270	1	0	1	0	1	0	0	0	0	14971	1432	50	0	56	0	SPA17	11	124545214	In_Frame_Del	DEL	TCT	TCGA-HU-A4GN-01A-11D-A25D-08	3067220	124545214	10461302	821	134321											
CDON	50937	broad.mit.edu	37	chr11	125873845	125873845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttggccttcacctgctgCgcttcttgctaccatcaaga	9	13	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:125873845C>T	uc009zbw.2	-	10	2106	c.1978G>A	c.(1978-1980)GCA>ACA	p.A660T	CDON_uc001qdb.3_Missense_Mutation_p.A37T|CDON_uc001qdc.3_Missense_Mutation_p.A660T	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	660	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	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)		TCACCTGCTGCGCTTCTTGCT	0.512													T	125873845	C	T	125873845	3	4	270	1	0	0	0	0	1	0	0	0	3170	768	27	1	1860	1	CDON	11	125873845	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1328631	125873845	9132671	822	134322											
SRPR	6734	broad.mit.edu	37	chr11	126135224	126135224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggtgacgacataagggCgctggcgacgctgggcatcc	16	10	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:126135224C>T	uc001qdh.2	-	10	1301	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	SRPR_uc010sbm.1_Missense_Mutation_p.R389H	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	417					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GACATAAGGGCGCTGGCGACG	0.542													T	126135224	C	T	126135224	3	4	270	1	0	0	0	0	1	0	0	0	15161	768	27	1	686	1	SRPR	11	126135224	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	261379	126135224	8871292	823	134323											
NTM	50863	broad.mit.edu	37	chr11	132180070	132180070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaaaggggacactgcaGtgtgaagcctcagcagtccc	13	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:132180070G>A	uc001qgp.2	+	5	1390	c.726G>A	c.(724-726)CAG>CAA	p.Q242Q	NTM_uc001qgm.2_Silent_p.Q242Q|NTM_uc010sch.1_Silent_p.Q233Q|NTM_uc010sci.1_Silent_p.Q242Q|NTM_uc010scj.1_Silent_p.Q201Q|NTM_uc001qgo.2_Silent_p.Q242Q|NTM_uc001qgq.2_Silent_p.Q242Q|NTM_uc001qgr.2_Translation_Start_Site	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	242	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GGACACTGCAGTGTGAAGCCT	0.527													A	132180070	G	A	132180070	2	1	270	1	0	0	0	0	0	0	0	1	10699	1020	36	4		4	NTM	11	132180070	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	6044846	132180070	2826446	824	134324											
C12orf4	57102	broad.mit.edu	37	chr12	4627343	4627343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttcacaccacttcgaTgatttcttttatgcttacag	6	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:4627343T>C	uc001qms.2	-	8	1002	c.914A>G	c.(913-915)CAT>CGT	p.H305R	C12orf4_uc001qmt.2_Missense_Mutation_p.H305R	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	305											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACCACTTCGATGATTTCTTTT	0.423													C	4627343	T	C	4627343	3	2	270	1	0	0	0	0	1	0	0	0	1685	1464	51	3	772	3	C12orf4	12	4627343	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08		4627343	129224552	825	134325											
GALNT8	26290	broad.mit.edu	37	chr12	4855350	4855350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctgctaacaggcacTtcctgggagagatcgggtct	13	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:4855350T>C	uc001qne.1	+	6	1191	c.1099T>C	c.(1099-1101)TTC>CTC	p.F367L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	367	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						TAACAGGCACTTCCTGGGAGA	0.532													C	4855350	T	C	4855350	3	2	270	1	0	0	0	0	1	0	0	0	6219	1609	56	3	1121	3	GALNT8	12	4855350	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	228007	4855350	128996545	826	134326											
VWF	7450	broad.mit.edu	37	chr12	6167034	6167034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgcgcgggttgagggcGcagggatcgctgtgctgctt	17	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:6167034G>A	uc001qnn.1	-	14	1960	c.1710C>T	c.(1708-1710)TGC>TGT	p.C570C	VWF_uc010set.1_Silent_p.C570C	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	570	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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GGTTGAGGGCGCAGGGATCGC	0.662													A	6167034	G	A	6167034	2	1	270	1	0	0	0	0	0	0	0	1	17243	1079	38	1		1	VWF	12	6167034	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1311684	6167034	127684861	827	134327											
GPR162	27239	broad.mit.edu	37	chr12	6936019	6936019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggacgaggaagaggctgaaGgtggggggctggccagcctt	20	7	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:6936019G>T	uc001qqw.1	+	5	1952	c.1417G>T	c.(1417-1419)GGT>TGT	p.G473C	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.G189C|GPR162_uc009zfd.1_Missense_Mutation_p.G169C|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	473	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGAGGCTGAAGGTGGGGGGCT	0.667													T	6936019	G	T	6936019	3	4	270	1	0	0	0	0	1	0	0	0	6666	1000	35	5	1450	5	GPR162	12	6936019	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	768985	6936019	126915876	828	134328											
CD163L1	283316	broad.mit.edu	37	chr12	7548698	7548698	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgggtatcttaccagaacaGatcactccaacatcttcact	5	12	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:7548698G>A	uc001qsy.2	-	8	2069	c.2043C>T	c.(2041-2043)ATC>ATT	p.I681I	CD163L1_uc010sge.1_Silent_p.I691I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	681	SRCR 6.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TACCAGAACAGATCACTCCAA	0.438													A	7548698	G	A	7548698	2	1	270	1	0	0	0	0	0	0	0	1	2968	932	33	4		4	CD163L1	12	7548698	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	612679	7548698	126303197	829	134329											
CD163L1	283316	broad.mit.edu	37	chr12	7556301	7556301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgccaaagacgctgaacGgacatcctagctgcttacaa	9	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:7556301G>A	uc001qsy.2	-	6	1264	c.1238C>T	c.(1237-1239)CCG>CTG	p.P413L	CD163L1_uc010sge.1_Missense_Mutation_p.P423L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	413	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GACGCTGAACGGACATCCTAG	0.463													A	7556301	G	A	7556301	3	1	270	1	0	0	0	0	1	0	0	0	2968	1116	39	1	3179	1	CD163L1	12	7556301	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7603	7556301	126295594	830	134330											
M6PR	4074	broad.mit.edu	37	chr12	9095102	9095102	+	Frame_Shift_Del	DEL	C	C	-													accagtcgctggtataggaaCcccccaacaacataaacagc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:9095101_9095101AC>A	uc001qvf.3	-	5	897	c.622_622GT>T	c.(622-624)ttcfs	p.F208fs	M6PR_uc021quk.1_Intron	NM_002355	NP_002346	P20645	MPRD_HUMAN	Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), transcript variant 1, mRNA.	208					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)		TGGTATAGGAACCCCCCAACA	0.453													-	9095102	C	-	9095102	7	5	270	1	0	1	0	1	0	0	0	0	9140	494	18	0	220	0	M6PR	12	9095102	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1538801	9095102	124756793	831	134331											
A2M	2	broad.mit.edu	37	chr12	9266084	9266084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtagctcagaaggacacAgcccttctcagtggtctcag	11	12	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:9266084A>G	uc001qvk.1	-	2	255	c.142T>C	c.(142-144)TGT>CGT	p.C48R	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	48					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			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	AGAAGGACACAGCCCTTCTCA	0.532													G	9266084	A	G	9266084	3	3	270	1	0	0	0	0	1	0	0	0	4	188	7	3	4422	3	A2M	12	9266084	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	170982	9266084	124585811	832	134332											
CLEC12A	160364	broad.mit.edu	37	chr12	10137481	10137481	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcagggttataagaaaCgcacctgacttaaataacat	6	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:10137481C>T	uc001qwr.3	+	6	842	c.654C>T	c.(652-654)AAC>AAT	p.N218N	CLEC12A_uc001qwq.2_Silent_p.N228N|CLEC12A_uc001qws.3_Silent_p.N185N|CLEC12A_uc001qwt.2_Silent_p.N147N	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	218	Extracellular (Potential).|C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						TTATAAGAAACGCACCTGACT	0.249													T	10137481	C	T	10137481	2	4	270	1	0	0	0	0	0	0	0	1	3497	535	19	1		1	CLEC12A	12	10137481	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	871397	10137481	123714414	833	134333											
PLCZ1	89869	broad.mit.edu	37	chr12	18854469	18854469	+	Frame_Shift_Del	DEL	T	T	-													aaagcattactccaggtaacTtttttacccctgtttccttg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:18854468_18854468CT>C	uc021qvx.1	-	8	1175	c.984_984AG>G	c.(982-984)aagfs	p.K328fs	PLCZ1_uc001rdv.4_Frame_Shift_Del_p.K224fs|PLCZ1_uc001rdw.4_Frame_Shift_Del_p.K69fs|PLCZ1_uc001rdu.1_Frame_Shift_Del_p.K110fs|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	328					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)					CTCCAGGTAACTTTTTTACCC	0.368													-	18854469	T	-	18854469	7	5	270	1	0	1	0	1	0	0	0	0	12044	1609	56	0	871	0	PLCZ1	12	18854469	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	8716988	18854469	114997426	834	134334											
PLEKHA5	54477	broad.mit.edu	37	chr12	19522684	19522684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagttccatccactcagcCgcagctcacagaaggatcac	8	16	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:19522684C>T	uc001reb.2	+	25	3400	c.3314C>T	c.(3313-3315)CCG>CTG	p.P1105L	PLEKHA5_uc001rea.2_Missense_Mutation_p.P1163L|PLEKHA5_uc009zin.2_Missense_Mutation_p.P863L|PLEKHA5_uc010sif.1_Missense_Mutation_p.P1094L|PLEKHA5_uc010sig.1_Missense_Mutation_p.P1087L|PLEKHA5_uc009zio.2_Missense_Mutation_p.P371L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	1105							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCACTCAGCCGCAGCTCACA	0.403													T	19522684	C	T	19522684	3	4	270	1	0	0	0	0	1	0	0	0	12059	652	23	1	3730	1	PLEKHA5	12	19522684	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	668215	19522684	114329211	835	134335											
SLCO1B1	10599	broad.mit.edu	37	chr12	21325632	21325632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgctaagacactaggtGcaattattatgaaaagttcc	7	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:21325632G>A	uc001req.3	+	3	237	c.133G>A	c.(133-135)GCA>ACA	p.A45T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	45	Helical; Name=1; (Potential).				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			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GACACTAGGTGCAATTATTAT	0.358													A	21325632	G	A	21325632	3	1	270	1	0	0	0	0	1	0	0	0	14723	1319	46	2	139	2	SLCO1B1	12	21325632	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1802948	21325632	112526263	836	134336											
PYROXD1	79912	broad.mit.edu	37	chr12	21602582	21602582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaaagttgatatgtgaagGaaatccttatgtattaggaa	9	4	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:21602582G>A	uc001rew.2	+	4	498	c.371G>A	c.(370-372)GGA>GAA	p.G124E	PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	124							oxidoreductase activity			ovary(1)	1						atatgtgaaggaaatcctTAT	0.254													A	21602582	G	A	21602582	3	1	270	1	0	0	0	0	1	0	0	0	12866	1174	41	4	385	4	PYROXD1	12	21602582	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	276950	21602582	112249313	837	134337											
ETNK1	55500	broad.mit.edu	37	chr12	22796816	22796816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattagtcgatcgagatgaGgaagtaaagagttttcgagt	12	3	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:22796816G>A	uc001rft.2	+	2	565	c.543G>A	c.(541-543)GAG>GAA	p.E181E	ETNK1_uc009ziz.2_Silent_p.E181E|ETNK1_uc001rfs.2_Silent_p.E181E	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	181					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						ATCGAGATGAGGAAGTAAAGA	0.408													A	22796816	G	A	22796816	2	1	270	1	0	0	0	0	0	0	0	1	5273	991	35	4		4	ETNK1	12	22796816	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1194234	22796816	111055079	838	134338											
C12orf11	55726	broad.mit.edu	37	chr12	27075620	27075620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataattggcagatgtgttaGcatgctgttcttccttgaag	10	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:27075620G>A	uc001rhk.3	-	8	1355	c.818C>T	c.(817-819)GCT>GTT	p.A273V	C12orf11_uc010sjk.1_Missense_Mutation_p.A172V	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	273					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					AGATGTGTTAGCATGCTGTTC	0.279													A	27075620	G	A	27075620	3	1	270	1	0	0	0	0	1	0	0	0	1675	971	34	2	1342	2	C12orf11	12	27075620	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4278804	27075620	106776275	839	134339											
CNTN1	1272	broad.mit.edu	37	chr12	41327522	41327522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccggatatccgatggcGgaaggttctagaaccaatgc	12	9	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:41327522G>A	uc001rmm.1	+	9	940	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	CNTN1_uc009zjy.1_Missense_Mutation_p.R276Q|CNTN1_uc001rmn.1_Missense_Mutation_p.R265Q|CNTN1_uc001rmo.2_Missense_Mutation_p.R276Q	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	276	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	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)				ATCCGATGGCGGAAGGTTCTA	0.378													A	41327522	G	A	41327522	3	1	270	1	0	0	0	0	1	0	0	0	3640	1116	39	1	857	1	CNTN1	12	41327522	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	14251902	41327522	92524373	840	134340											
PDZRN4	29951	broad.mit.edu	37	chr12	41961668	41961668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagaagagcataatgaAgcaatgcagcccactgccaa	10	9	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:41961668A>C	uc010skn.1	+	9	1022	c.954A>C	c.(952-954)GAA>GAC	p.E318D	PDZRN4_uc001rmq.3_Missense_Mutation_p.E259D|PDZRN4_uc009zjz.2_Missense_Mutation_p.E257D|PDZRN4_uc001rmr.2_Missense_Mutation_p.E144D	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	517							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGCATAATGAAGCAATGCAGC	0.398													C	41961668	A	C	41961668	3	2	270	1	0	0	0	0	1	0	0	0	11710	69	3	5	1658	5	PDZRN4	12	41961668	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	634146	41961668	91890227	841	134341											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777488	43777488	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatttggttatctgtgcacTccattcgttgatgtgaatct	9	7	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:43777488T>G	uc010skx.1	-	31	4670	c.4670A>C	c.(4669-4671)GAG>GCG	p.E1557A		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1557	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)		ATCTGTGCACTCCATTCGTTG	0.343													G	43777488	T	G	43777488	3	3	270	1	0	0	0	0	1	0	0	0	266	1551	54	5	1097	5	ADAMTS20	12	43777488	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1815820	43777488	90074407	842	134342											
PUS7L	83448	broad.mit.edu	37	chr12	44148392	44148392	+	Frame_Shift_Del	DEL	A	A	-													ttctttgcatccaaatatttAaaaaagtcaaatgcttcctc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:44148391_44148391TA>T	uc001rns.4	-	1	738	c.658_658TA>A	c.(658-660)aaafs	p.K220fs	PUS7L_uc001rnq.4_Frame_Shift_Del_p.K220fs|PUS7L_uc001rnr.4_Frame_Shift_Del_p.K220fs|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	220					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			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)		TCCAAATATTTAAAAAAGTCA	0.299													-	44148392	A	-	44148392	7	5	270	1	0	1	0	1	0	0	0	0	12834	359	13	0	1480	0	PUS7L	12	44148392	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	370904	44148392	89703503	843	134343											
ANO6	196527	broad.mit.edu	37	chr12	45822891	45822891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctcttccccagcacGtcatctactctgtgaaattt	4	14	5	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:45822891G>A	uc001roo.2	+	20	2865	c.2530G>A	c.(2530-2532)GTC>ATC	p.V844I	ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.V865I|ANO6_uc010slg.1_Missense_Mutation_p.V826I	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	844	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TCCCCAGCACGTCATCTACTC	0.393													A	45822891	G	A	45822891	3	1	270	1	0	0	0	0	1	0	0	0	701	1145	40	1	2628	1	ANO6	12	45822891	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1674499	45822891	88029004	844	134344											
MLL2	8085	broad.mit.edu	37	chr12	49420273	49420273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatttgcttcacctcgtccCgctcaatgtagacccgccgg	9	16	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49420273C>T	uc001rta.3	-	48	15476	c.15476G>A	c.(15475-15477)CGG>CAG	p.R5159Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5159					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CACCTCGTCCCGCTCAATGTA	0.562			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49420273	C	T	49420273	3	4	270	1	0	0	0	0	1	0	0	0	9621	652	23	1	1165	1	MLL2	12	49420273	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3597382	49420273	84431622	845	134345											
MLL2	8085	broad.mit.edu	37	chr12	49440450	49440450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggggtccaggcagtatgTgtggtagctaatatcacagt	15	6	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49440450T>C	uc001rta.3	-	15	4360	c.4360A>G	c.(4360-4362)ACA>GCA	p.T1454A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1454	Cys-rich.|PHD-type 4.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGCAGTATGTGTGGTAGCTA	0.602			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			C	49440450	T	C	49440450	3	2	270	1	0	0	0	0	1	0	0	0	9621	1696	59	3	12413	3	MLL2	12	49440450	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	20177	49440450	84411445	846	134346											
TUBA1A	7846	broad.mit.edu	37	chr12	49579153	49579153	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcttggtcttgatggtggcAatggcagcattgacatcttt	12	8	2	2	rs148479477		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49579153A>G	uc009zlf.2	-	4	1268	c.996T>C	c.(994-996)ATT>ATC	p.I332I	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Silent_p.I332I|TUBA1A_uc001rtq.2_Silent_p.I179I|TUBA1A_uc001rtr.2_Silent_p.I179I|TUBA1A_uc009zlg.2_Silent_p.I179I	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	332					'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				0						TGATGGTGGCAATGGCAGCAT	0.537													G	49579153	A	G	49579153	2	3	270	1	0	0	0	0	0	0	0	1	16740	126	5	3		3	TUBA1A	12	49579153	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	138703	49579153	84272742	847	134347											
TROAP	10024	broad.mit.edu	37	chr12	49719360	49719360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgagggtgtgaagagCtgtcacctggggcgccagcc	17	10	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49719360C>A	uc001rtx.3	+	4	581	c.414C>A	c.(412-414)AGC>AGA	p.S138R	TROAP_uc009zlh.2_Missense_Mutation_p.S138R|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	138					cell adhesion	cytoplasm				ovary(1)	1						GTGTGAAGAGCTGTCACCTGG	0.567													A	49719360	C	A	49719360	3	1	270	1	0	0	0	0	1	0	0	0	16572	796	28	5	526	5	TROAP	12	49719360	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	140207	49719360	84132535	848	134348											
MCRS1	10445	broad.mit.edu	37	chr12	49953241	49953241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggcctgcctcacctcacGcgagcgcatcaggtaccgca	11	16	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49953241G>A	uc001ruk.1	-	12	1272	c.1081C>T	c.(1081-1083)CGT>TGT	p.R361C	MCRS1_uc001rui.1_Missense_Mutation_p.R374C|MCRS1_uc001ruj.1_Missense_Mutation_p.R348C|MCRS1_uc001rul.1_Missense_Mutation_p.R361C|MCRS1_uc009zlj.1_Missense_Mutation_p.R170C|MCRS1_uc001rum.1_Missense_Mutation_p.R348C	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	361					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						CTCACCTCACGCGAGCGCATC	0.602													A	49953241	G	A	49953241	3	1	270	1	0	0	0	0	1	0	0	0	9399	1087	38	1	323	1	MCRS1	12	49953241	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	233881	49953241	83898654	849	134349											
PRPF40B	25766	broad.mit.edu	37	chr12	50029242	50029242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtcctcttcttcctgGccaagaaggagaaggtaatg	11	8	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:50029242G>A	uc001rur.1	+	13	1259	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	PRPF40B_uc001rup.1_Missense_Mutation_p.A421T|PRPF40B_uc001ruq.1_Missense_Mutation_p.A393T|PRPF40B_uc001rus.1_Missense_Mutation_p.A342T	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	399					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CTTCTTCCTGGCCAAGAAGGA	0.527													A	50029242	G	A	50029242	3	1	270	1	0	0	0	0	1	0	0	0	12572	1203	42	2	1245	2	PRPF40B	12	50029242	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	76001	50029242	83822653	850	134350											
CELA1	1990	broad.mit.edu	37	chr12	51723605	51723605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaagcaatggagggggcCcccagagtcaccctgcaggg	14	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:51723605C>T	uc001ryi.1	-	7	663	c.622G>A	c.(622-624)GGC>AGC	p.G208S		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	208	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			breast(1)	1						TGGAGGGGGCCCCCAGAGTCA	0.547													T	51723605	C	T	51723605	3	4	270	1	0	0	0	0	1	0	0	0	3210	623	22	4	162	4	CELA1	12	51723605	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1694363	51723605	82128290	851	134351											
KRT86	3892	broad.mit.edu	37	chr12	52695706	52695706	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaaaagcaccatgacTtgtggatcttactgtggtgg	10	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:52695706T>C	uc010snq.1	+	2	139	c.6T>C	c.(4-6)ACT>ACC	p.T2T	KRT86_uc009zmg.2_Silent_p.T2T|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Silent_p.T2T	NM_002284	NP_002275	O43790	KRT86_HUMAN	keratin 86	2	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACCATGACTTGTGGATCTT	0.637													C	52695706	T	C	52695706	2	2	270	1	0	0	0	0	0	0	0	1	8500	1596	56	3		3	KRT86	12	52695706	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	972101	52695706	81156189	852	134352											
KRT6A	3853	broad.mit.edu	37	chr12	52885416	52885416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggttgttgatgtactgCtcgaacaacggctccaggtt	12	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:52885416C>A	uc001sam.2	-	2	854	c.645G>T	c.(643-645)GAG>GAT	p.E215D		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	215	Rod.|Linker 1.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATGTACTGCTCGAACAACG	0.592													A	52885416	C	A	52885416	3	1	270	1	0	0	0	0	1	0	0	0	8480	796	28	5	1081	5	KRT6A	12	52885416	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	189710	52885416	80966479	853	134353											
KRT73	319101	broad.mit.edu	37	chr12	53012151	53012151	+	Frame_Shift_Del	DEL	C	C	-													tgaaagagatgctccgggcaCcccccaggctgtaaaggctc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:53012150_53012150AC>A	uc001sas.3	-	0	194	c.159_159GT>T	c.(157-159)ggtfs	p.G53fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	53	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCCGGGCACCCCCCAGGC	0.642													-	53012151	C	-	53012151	7	5	270	1	0	1	0	1	0	0	0	0	8486	507	18	0	1500	0	KRT73	12	53012151	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	126735	53012151	80839744	854	134354											
CSAD	51380	broad.mit.edu	37	chr12	53554091	53554091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggacccatggcagcGcttgagcaggttctgtgtgg	17	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:53554091G>A	uc001sby.2	-	13	1105	c.979C>T	c.(979-981)CGC>TGC	p.R327C	CSAD_uc001sbw.2_Missense_Mutation_p.R180C|CSAD_uc009zmt.2_Missense_Mutation_p.R109C|CSAD_uc010snx.1_Missense_Mutation_p.R354C|CSAD_uc001sbz.2_Missense_Mutation_p.R327C|CSAD_uc009zmu.2_Missense_Mutation_p.R180C|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCATGGCAGCGCTTGAGCAGG	0.602									Hereditary_Prostate_Cancer				A	53554091	G	A	53554091	3	1	270	1	0	0	0	0	1	0	0	0	3925	1087	38	1	518	1	CSAD	12	53554091	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	541940	53554091	80297804	855	134355											
ESPL1	9700	broad.mit.edu	37	chr12	53677280	53677280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccaaggccttttgctTggaggccctaaaacttacaa	9	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:53677280T>C	uc001sck.2	+	16	3126	c.3035T>C	c.(3034-3036)TTG>TCG	p.L1012S	ESPL1_uc001scj.2_Missense_Mutation_p.L687S|ESPL1_uc010soe.1_Missense_Mutation_p.L223S	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1012					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			lung(1)|kidney(1)|skin(1)	3						GCCTTTTGCTTGGAGGCCCTA	0.532													C	53677280	T	C	53677280	3	2	270	1	0	0	0	0	1	0	0	0	5253	1821	63	3	3093	3	ESPL1	12	53677280	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	123189	53677280	80174615	856	134356											
HNRNPA1	3178	broad.mit.edu	37	chr12	54676226	54676226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactgtgaagttagaaaagCcctgtcaaagcaagagatgg	11	7	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:54676226C>A	uc001sfl.2	+	5	643	c.539C>A	c.(538-540)GCC>GAC	p.A180D	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.A180D|HNRNPA1_uc009zng.2_Missense_Mutation_p.A180D|HNRNPA1_uc009znh.2_Missense_Mutation_p.A180D|HNRNPA1_uc009zni.2_Missense_Mutation_p.A180D|HNRNPA1_uc001sfn.2_Missense_Mutation_p.A180D|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.A135D|HNRNPA1_uc009znj.1_Missense_Mutation_p.A135D	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	180	Globular B domain.|RRM 2.				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			skin(2)|ovary(1)	3						GTTAGAAAAGCCCTGTCAAAG	0.373													A	54676226	C	A	54676226	3	1	270	1	0	0	0	0	1	0	0	0	7257	739	26	5	557	5	HNRNPA1	12	54676226	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	998946	54676226	79175669	857	134357											
SLC39A5	283375	broad.mit.edu	37	chr12	56630453	56630453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggccacagtcatgggcAccagggtggcactgatatca	12	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:56630453A>G	uc010sqj.1	+	10	1387	c.1130A>G	c.(1129-1131)CAC>CGC	p.H377R	SLC39A5_uc010sqk.1_Missense_Mutation_p.H377R	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	377	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						AGTCATGGGCACCAGGGTGGC	0.632													G	56630453	A	G	56630453	3	3	270	1	0	0	0	0	1	0	0	0	14621	159	6	3	1156	3	SLC39A5	12	56630453	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1954227	56630453	77221442	858	134358											
BAZ2A	11176	broad.mit.edu	37	chr12	56994066	56994066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacctcatgagttggccagAggggctcccgcaggtaccgc	13	14	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:56994066A>G	uc001slq.1	-	24	5011	c.4817T>C	c.(4816-4818)CTC>CCC	p.L1606P	BAZ2A_uc001slp.1_Missense_Mutation_p.L1604P|BAZ2A_uc001slo.1_Missense_Mutation_p.L412P|BAZ2A_uc009zov.1_Missense_Mutation_p.L572P|BAZ2A_uc009zow.1_Missense_Mutation_p.L1574P	NM_013449	NP_038477	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				0						AGTTGGCCAGAGGGGCTCCCG	0.592													G	56994066	A	G	56994066	3	3	270	1	0	0	0	0	1	0	0	0	1331	304	11	3	924	3	BAZ2A	12	56994066	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	363613	56994066	76857829	859	134359											
NAB2	4665	broad.mit.edu	37	chr12	57485491	57485491	+	Frame_Shift_Del	DEL	G	G	-													tccctgaggggactggggctGgggggctggcagcaggtggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:57485490_57485490TG>T	uc001smz.3	+	1	1044	c.666_666TG>T	c.(664-666)gctfs	p.A222fs		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	222					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGACTGGGGCTGGGGGGCTGG	0.672													-	57485491	G	-	57485491	7	5	270	1	0	1	0	1	0	0	0	0	10132	1348	47	0	673	0	NAB2	12	57485491	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	491425	57485491	76366404	860	134360											
GLI1	2735	broad.mit.edu	37	chr12	57864329	57864329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagggggtggtacttcGcccactgcagcatccagcct	13	14	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:57864329G>A	uc001snx.2	+	12	1884	c.1806G>A	c.(1804-1806)TCG>TCA	p.S602S	GLI1_uc009zpq.2_Silent_p.S474S	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	602					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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGGTACTTCGCCCACTGCAG	0.597													A	57864329	G	A	57864329	2	1	270	1	0	0	0	0	0	0	0	1	6437	1074	38	1		1	GLI1	12	57864329	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	378838	57864329	75987566	861	134361											
AGAP2	116986	broad.mit.edu	37	chr12	58124620	58124620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtccttgacgagcccGttaatgctggctgaggggcc	13	12	1	2	rs147633851	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:58124620G>A	uc001spq.2	-	11	2262	c.2262C>T	c.(2260-2262)AAC>AAT	p.N754N	AGAP2_uc001spp.2_Silent_p.N754N|AGAP2_uc001spr.2_Silent_p.N418N	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	754	PH.				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			central_nervous_system(3)|breast(2)	5						TGACGAGCCCGTTAATGCTGG	0.592													A	58124620	G	A	58124620	2	1	270	1	0	0	0	0	0	0	0	1	368	1136	40	1		1	AGAP2	12	58124620	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	260291	58124620	75727275	862	134362											
AVIL	10677	broad.mit.edu	37	chr12	58201268	58201268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatcctgtgaggcgtggCggccctgcaatggtgagagg	17	10	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:58201268C>T	uc001sqj.1	-	12	1366	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H	AVIL_uc009zqe.1_Missense_Mutation_p.R439H|AVIL_uc001sqk.1_Missense_Mutation_p.R24H|AVIL_uc001sql.3_Missense_Mutation_p.R423H	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	446	Gelsolin-like 4.|Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGAGGCGTGGCGGCCCTGCAA	0.627													T	58201268	C	T	58201268	3	4	270	1	0	0	0	0	1	0	0	0	1227	768	27	1	1154	1	AVIL	12	58201268	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	76648	58201268	75650627	863	134363											
AVPR1A	552	broad.mit.edu	37	chr12	63543909	63543909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtagcagatgaagccGtagcaggtacccaagatgac	12	8	0	4	rs149088415		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:63543909G>A	uc001sro.1	-	1	2682	c.708C>T	c.(706-708)TAC>TAT	p.Y236Y		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	236	Helical; Name=5; (Potential).				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				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGAAGCCGTAGCAGGTAC	0.627													A	63543909	G	A	63543909	2	1	270	1	0	0	0	0	0	0	0	1	1231	1140	40	1		1	AVPR1A	12	63543909	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5342641	63543909	70307986	864	134364											
TBK1	29110	broad.mit.edu	37	chr12	64854020	64854020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaataacataagcttccttCgtccagtggatgttcaaatg	7	8	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:64854020C>T	uc001ssc.1	+	3	201	c.139C>T	c.(139-141)CGT>TGT	p.R47C		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	47	Protein kinase.				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			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		AAGCTTCCTTCGTCCAGTGGA	0.269													T	64854020	C	T	64854020	3	4	270	1	0	0	0	0	1	0	0	0	15634	884	31	1	145	1	TBK1	12	64854020	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1310111	64854020	68997875	865	134365											
HELB	92797	broad.mit.edu	37	chr12	66725241	66725241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtagtcacagaccacgCcatgacaaatgatgtcacct	7	14	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:66725241C>T	uc001sti.2	+	12	3006	c.2978C>T	c.(2977-2979)GCC>GTC	p.A993V	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	993					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACAGACCACGCCATGACAAAT	0.542													T	66725241	C	T	66725241	3	4	270	1	0	0	0	0	1	0	0	0	7045	739	26	2	3024	2	HELB	12	66725241	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1871221	66725241	67126654	866	134366											
RAP1B	5908	broad.mit.edu	37	chr12	69042518	69042518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatcatgcgtgagtataAgctagtcgttcttggctcag	11	8	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:69042518A>G	uc001sub.2	+	2	177	c.14A>G	c.(13-15)AAG>AGG	p.K5R	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.K5R|RAP1B_uc010stf.1_Missense_Mutation_p.K5R|RAP1B_uc010stg.1_Missense_Mutation_p.K5R|RAP1B_uc010sth.1_Missense_Mutation_p.K5R|RAP1B_uc010sti.1_Missense_Mutation_p.K5R	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	5					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CGTGAGTATAAGCTAGTCGTT	0.373													G	69042518	A	G	69042518	3	3	270	1	0	0	0	0	1	0	0	0	13036	72	3	3	16	3	RAP1B	12	69042518	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2317277	69042518	64809377	867	134367											
ZFC3H1	196441	broad.mit.edu	37	chr12	72026000	72026000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgctctctgcttgaacCagacaaaatttcatcatcaa	4	12	5	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:72026000C>A	uc001swo.2	-	15	3471	c.3112G>T	c.(3112-3114)GGT>TGT	p.G1038C		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1038					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CTGCTTGAACCAGACAAAATT	0.348													A	72026000	C	A	72026000	3	1	270	1	0	0	0	0	1	0	0	0	17630	594	21	5	2941	5	ZFC3H1	12	72026000	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2983482	72026000	61825895	868	134368											
TMEM19	55266	broad.mit.edu	37	chr12	72094768	72094768	+	Frame_Shift_Del	DEL	G	G	-													tgcttggggtttttggcccaGggggtgaactttatttcatt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:72094767_72094767AG>A	uc001sws.3	+	5	1586	c.1003_1003AG>A	c.(1003-1005)aggfs	p.R335fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	335						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTTTTGGCCCAGGGGGTGAAC	0.418													-	72094768	G	-	72094768	7	5	270	1	0	1	0	1	0	0	0	0	16110	1000	35	0	1026	0	TMEM19	12	72094768	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	68768	72094768	61757127	869	134369											
E2F7	144455	broad.mit.edu	37	chr12	77444367	77444367	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatacataccaagactgacaGcaacttcatctagggagatg	9	9	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:77444367G>T	uc001sym.3	-	4	763	c.527C>A	c.(526-528)GCT>GAT	p.A176D	E2F7_uc001syn.2_Missense_Mutation_p.A176D	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	176	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						AAGACTGACAGCAACTTCATC	0.453													T	77444367	G	T	77444367	3	4	270	1	0	0	0	0	1	0	0	0	4872	971	34	5	2248	5	E2F7	12	77444367	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5349599	77444367	56407528	870	134370											
SYT1	6857	broad.mit.edu	37	chr12	79685798	79685798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatacataggccctcaaggAtgatgatgctgaaactggat	10	8	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:79685798A>G	uc001sys.2	+	7	1033	c.362A>G	c.(361-363)GAT>GGT	p.D121G	SYT1_uc001syt.2_Missense_Mutation_p.D121G|SYT1_uc001syu.2_Missense_Mutation_p.D118G|SYT1_uc001syv.2_Missense_Mutation_p.D121G	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	121	Cytoplasmic (Potential).				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			skin(3)|pancreas(2)|ovary(1)	6						GCCCTCAAGGATGATGATGCT	0.388													G	79685798	A	G	79685798	3	3	270	1	0	0	0	0	1	0	0	0	15462	333	12	3	372	3	SYT1	12	79685798	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2241431	79685798	54166097	871	134371											
MYF6	4618	broad.mit.edu	37	chr12	81102325	81102325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggtgcggatttcctgcGcacctgcagctcccagtggc	14	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:81102325G>A	uc001szf.1	+	2	595	c.542G>A	c.(541-543)CGC>CAC	p.R181H		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	181					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)	1						GATTTCCTGCGCACCTGCAGC	0.592													A	81102325	G	A	81102325	3	1	270	1	0	0	0	0	1	0	0	0	10028	1087	38	1	548	1	MYF6	12	81102325	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1416527	81102325	52749570	872	134372											
CRADD	8738	broad.mit.edu	37	chr12	94243943	94243943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtggaggccttcatcCgttggcggcagcgcttcggg	18	10	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:94243943C>T	uc001tda.2	+	3	600	c.496C>T	c.(496-498)CGT>TGT	p.R166C	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with	166	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			ovary(1)	1						GGCCTTCATCCGTTGGCGGCA	0.642													T	94243943	C	T	94243943	3	4	270	1	0	0	0	0	1	0	0	0	3845	652	23	1	502	1	CRADD	12	94243943	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	13141618	94243943	39607952	873	134373											
PLXNC1	10154	broad.mit.edu	37	chr12	94676091	94676091	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcttcaaatgggcacaCgacagaaagaacttctggac	10	10	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:94676091C>T	uc001tdc.2	+	23	4042	c.3793C>T	c.(3793-3795)CGA>TGA	p.R1265*	PLXNC1_uc010sut.1_Nonsense_Mutation_p.R312*|PLXNC1_uc009zsv.2_Nonsense_Mutation_p.R4*	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1265	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AATGGGCACACGACAGAAAGA	0.388													T	94676091	C	T	94676091	4	4	270	1	0	0	0	0	0	1	0	0	12126	528	19	1	3883	1	PLXNC1	12	94676091	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	432148	94676091	39175804	874	134374											
NEDD1	121441	broad.mit.edu	37	chr12	97337434	97337434	+	Frame_Shift_Del	DEL	T	T	-													gcattctagtcctcttaatgTttttatgggatctccaggga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:97337433_97337433GT>G	uc001tew.3	+	10	1557	c.1411_1411GT>G	c.(1411-1413)gttfs	p.V471fs	NEDD1_uc001teu.4_Frame_Shift_Del_p.V464fs|NEDD1_uc001tev.4_Frame_Shift_Del_p.V464fs|NEDD1_uc010svc.2_Frame_Shift_Del_p.V375fs|NEDD1_uc001tex.3_Frame_Shift_Del_p.V375fs	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	464					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TCCTCTTAATGTTTTTATGGG	0.378													-	97337434	T	-	97337434	7	5	270	1	0	1	0	1	0	0	0	0	10309	1725	60	0	1454	0	NEDD1	12	97337434	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	2661343	97337434	36514461	875	134375											
SLC5A8	160728	broad.mit.edu	37	chr12	101581230	101581230	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtacctggaatatagggcGagcccacaaaacactgagca	11	10	0	1	rs147034851	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:101581230G>A	uc001thz.3	-	7	1287	c.897C>T	c.(895-897)CTC>CTT	p.L299L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	299	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						AATATAGGGCGAGCCCACAAA	0.453													A	101581230	G	A	101581230	2	1	270	1	0	0	0	0	0	0	0	1	14671	1045	37	1		1	SLC5A8	12	101581230	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4243796	101581230	32270665	876	134376											
IGF1	3479	broad.mit.edu	37	chr12	102811676	102811676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctttcctctgatctGcagacttgcttctgtcccct	5	14	5	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:102811676G>T	uc001tjp.3	-	4	727	c.508C>A	c.(508-510)CAG>AAG	p.Q170K	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	170					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						CCTCTGATCTGCAGACTTGCT	0.478													T	102811676	G	T	102811676	3	4	270	1	0	0	0	0	1	0	0	0	7570	1328	46	5	147	5	IGF1	12	102811676	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1230446	102811676	31040219	877	134377											
STAB2	55576	broad.mit.edu	37	chr12	104049047	104049047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaccataatgacaatgCtacaaccaaggtacagcaag	7	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:104049047C>T	uc001tjw.2	+	14	1756	c.1570C>T	c.(1570-1572)CTA>TTA	p.L524L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	524	Extracellular (Potential).|FAS1 2.				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			ovary(9)|skin(5)	14						AATGACAATGCTACAACCAAG	0.284													T	104049047	C	T	104049047	2	4	270	1	0	0	0	0	0	0	0	1	15237	796	28	2		2	STAB2	12	104049047	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1237371	104049047	29802848	878	134378											
EID3	493861	broad.mit.edu	37	chr12	104698101	104698101	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgttcgtgggtctgaAttggatggaaggcgatcctg	15	6	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:104698101A>T	uc001tkw.2	+	1	553	c.389A>T	c.(388-390)AAT>ATT	p.N130I	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						GTGGGTCTGAATTGGATGGAA	0.398													T	104698101	A	T	104698101	3	4	270	1	0	0	0	0	1	0	0	0	4989	101	4	5	391	5	EID3	12	104698101	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	649054	104698101	29153794	879	134379											
CRY1	1407	broad.mit.edu	37	chr12	107393779	107393779	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgacaaacaaccaaatcGgagataaggactaagtccag	8	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:107393779G>A	uc001tmi.3	-	6	1625	c.766C>T	c.(766-768)CGA>TGA	p.R256*		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	256	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						CAACCAAATCGGAGATAAGGA	0.363													A	107393779	G	A	107393779	4	1	270	1	0	0	0	0	0	1	0	0	3903	1124	39	1	1022	1	CRY1	12	107393779	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2695678	107393779	26458116	880	134380											
SSH1	54434	broad.mit.edu	37	chr12	109210869	109210869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcctcggtgtcctggcGcccgctgctgtacaccacca	9	17	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:109210869G>A	uc001tnm.2	-	5	433	c.346C>T	c.(346-348)CGC>TGC	p.R116C	SSH1_uc010sxg.1_Missense_Mutation_p.R127C|SSH1_uc001tnn.3_Missense_Mutation_p.R116C|SSH1_uc001tno.1_Missense_Mutation_p.R43C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	116					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			ovary(4)	4						GTGTCCTGGCGCCCGCTGCTG	0.597													A	109210869	G	A	109210869	3	1	270	1	0	0	0	0	1	0	0	0	15183	1087	38	1	3033	1	SSH1	12	109210869	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1817090	109210869	24641026	881	134381											
ACACB	32	broad.mit.edu	37	chr12	109704119	109704119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcccagctgagcgggcGcaggtcgttcacctgctgtc	13	14	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:109704119G>A	uc001tob.2	+	53	7448	c.7329G>A	c.(7327-7329)GCG>GCA	p.A2443A	ACACB_uc001toc.2_Silent_p.A2443A|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.A1109A	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2443					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTGAGCGGGCGCAGGTCGTTC	0.647													A	109704119	G	A	109704119	2	1	270	1	0	0	0	0	0	0	0	1	107	1074	38	1		1	ACACB	12	109704119	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	493250	109704119	24147776	882	134382											
UBE3B	89910	broad.mit.edu	37	chr12	109948193	109948193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttccagtctgtccacGggtggcttatggtgctgtac	13	10	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:109948193G>A	uc001top.2	+	17	2389	c.1786G>A	c.(1786-1788)GGG>AGG	p.G596R	UBE3B_uc001toq.2_Missense_Mutation_p.G596R|UBE3B_uc001tos.2_Missense_Mutation_p.G23R|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.G596R	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	596					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GTCTGTCCACGGGTGGCTTAT	0.612													A	109948193	G	A	109948193	3	1	270	1	0	0	0	0	1	0	0	0	16877	1116	39	1	1844	1	UBE3B	12	109948193	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	244074	109948193	23903702	883	134383											
ATP2A2	488	broad.mit.edu	37	chr12	110770466	110770466	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgagtttaccataactggatCaacttatgcacctattggag	8	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:110770466C>T	uc001tqk.3	+	9	1723	c.1160C>T	c.(1159-1161)TCA>TTA	p.S387L	ATP2A2_uc001tql.3_Missense_Mutation_p.S387L|ATP2A2_uc010sxy.1_Missense_Mutation_p.S360L	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	387	Cytoplasmic (By similarity).|Interacts with phospholamban 1 (By similarity).				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			ovary(3)|skin(1)	4						ATAACTGGATCAACTTATGCA	0.418													T	110770466	C	T	110770466	3	4	270	1	0	0	0	0	1	0	0	0	1137	838	29	4	1194	4	ATP2A2	12	110770466	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	822273	110770466	23081429	884	134384											
PPP1CC	5501	broad.mit.edu	37	chr12	111168366	111168366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccataaattctgttgatgCtggcacattcatggttccct	7	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111168366C>T	uc001tru.2	-	3	631	c.386G>A	c.(385-387)AGC>AAC	p.S129N		NM_002710	NP_002701	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma	129					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			lung(2)|central_nervous_system(1)	3						TCTGTTGATGCTGGCACATTC	0.328													T	111168366	C	T	111168366	3	4	270	1	0	0	0	0	1	0	0	0	12351	797	28	2	605	2	PPP1CC	12	111168366	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	397900	111168366	22683529	885	134385											
CUX2	23316	broad.mit.edu	37	chr12	111758403	111758403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacggccgaggcgggcgcgCggctgccctactacccggcc	16	18	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111758403C>T	uc001tsa.1	+	17	2743	c.2590C>T	c.(2590-2592)CGG>TGG	p.R864W		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	864						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GGCGGGCGCGCGGCTGCCCTA	0.736													T	111758403	C	T	111758403	3	4	270	1	0	0	0	0	1	0	0	0	4065	759	27	1	2656	1	CUX2	12	111758403	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	590037	111758403	22093492	886	134386											
CUX2	23316	broad.mit.edu	37	chr12	111785628	111785628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccaggactcaggggaGctggacaaaggccaaggtcc	14	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111785628G>A	uc001tsa.1	+	22	4113	c.3960G>A	c.(3958-3960)GAG>GAA	p.E1320E		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						ACTCAGGGGAGCTGGACAAAG	0.622													A	111785628	G	A	111785628	2	1	270	1	0	0	0	0	0	0	0	1	4065	962	34	2		2	CUX2	12	111785628	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	27225	111785628	22066267	887	134387											
ATXN2	6311	broad.mit.edu	37	chr12	111923112	111923112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgattcactggcatgggCgtcataggtattgggtataa	13	6	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111923112C>T	uc001tsj.2	-	18	3123	c.2961G>A	c.(2959-2961)ACG>ACA	p.T987T	ATXN2_uc001tsh.2_Silent_p.T722T|ATXN2_uc001tsi.2_Silent_p.T698T|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Silent_p.T173T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	987	Pro-rich.				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			ovary(1)|breast(1)	2						CTGGCATGGGCGTCATAGGTA	0.363													T	111923112	C	T	111923112	2	4	270	1	0	0	0	0	0	0	0	1	1211	755	27	1		1	ATXN2	12	111923112	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	137484	111923112	21928783	888	134388											
TAOK3	51347	broad.mit.edu	37	chr12	118639157	118639158	+	Frame_Shift_Ins	INS	-	-	T													cgtgtctcttggaaaagtatINSttttttcatttttcggtact							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:118639156_118639157A>AT	uc001twx.3	-	11	1226_1227	c.931_932T>AT	c.(931-933)atafs	p.I311fs	TAOK3_uc001tww.3_Frame_Shift_Ins_p.I141fs|TAOK3_uc001twy.4_Frame_Shift_Ins_p.I311fs	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	311					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGAAAAGTATTTTTTTCATT	0.431													T	118639158	-	T	118639157	7	5	270	1	0	1	1	0	0	0	0	0	15546	1493	52	0	1805	0	TAOK3	12	118639157	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	6716045	118639157	15212738	889	134389											
CCDC60	160777	broad.mit.edu	37	chr12	119773055	119773055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtccggcccttttatgcctCggagaacctaaggcaggtaa	11	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:119773055C>T	uc001txe.2	+	1	539	c.74C>T	c.(73-75)TCG>TTG	p.S25L		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	25										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTTATGCCTCGGAGAACCTA	0.413													T	119773055	C	T	119773055	3	4	270	1	0	0	0	0	1	0	0	0	2831	893	31	1	76	1	CCDC60	12	119773055	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1133898	119773055	14078840	890	134390											
RAB35	11021	broad.mit.edu	37	chr12	120546244	120546244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtgttgtctgcaaaaCgcaacagtaaactgctcttg	9	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:120546244C>T	uc001txm.1	-	2	225	c.80G>A	c.(79-81)CGT>CAT	p.R27H	RAB35_uc009zww.1_5'UTR|RAB35_uc010szh.1_Missense_Mutation_p.R27H	NM_006861	NP_006852	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	27					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				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GTCTGCAAAACGCAACAGTAA	0.577													T	120546244	C	T	120546244	3	4	270	1	0	0	0	0	1	0	0	0	12925	536	19	1	545	1	RAB35	12	120546244	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	773189	120546244	13305651	891	134391											
CAMKK2	10645	broad.mit.edu	37	chr12	121678620	121678620	+	Frame_Shift_Del	DEL	C	C	-													tcacaagagcacttcctcctCccccacggggggcgggtcgg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:121678619_121678619TC>T	uc001tzv.3	-	16	2479	c.1650_1650GA>A	c.(1648-1650)ggafs	p.G550fs	CAMKK2_uc001tzt.3_Frame_Shift_Del_p.E536fs|CAMKK2_uc001tzu.3_Frame_Shift_Del_p.G550fs|CAMKK2_uc001tzw.3_Frame_Shift_Del_p.G507fs|CAMKK2_uc001tzx.3_Frame_Shift_Del_p.E536fs|CAMKK2_uc001tzy.3_Frame_Shift_Del_p.E493fs|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	550					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACTTCCTCCTCCCCCACGGG	0.642													-	121678620	C	-	121678620	7	5	270	1	0	1	0	1	0	0	0	0	2607	864	30	0	121	0	CAMKK2	12	121678620	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1132376	121678620	12173275	892	134392											
MORN3	283385	broad.mit.edu	37	chr12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcacgttgtccttccactCgcccacatagtagtcgccat	6	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:122107269C>T	uc001uax.2	-	1	292	c.121G>A	c.(121-123)GAG>AAG	p.E41K	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	41	MORN 1.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	122107269	C	T	122107269	3	4	270	1	0	0	0	0	1	0	0	0	9709	893	31	1	621	1	MORN3	12	122107269	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	428649	122107269	11744626	893	134393											
BCL7A	605	broad.mit.edu	37	chr12	122492892	122492892	+	Frame_Shift_Del	DEL	G	G	-													cgggagcccattgggttgtcGggggtacgttgaaaggtgtt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:122492891_122492891CG>C	uc001ubo.3	+	4	757	c.620_620CG>C	c.(619-621)tcgfs	p.S207fs	BCL7A_uc001ubp.3_Intron	NM_020993	NP_066273	Q4VC05	BCL7A_HUMAN	Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA.	187					negative regulation of transcription, DNA-dependent			p.S207L(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ATTGGGTTGTCGGGGGTACGT	0.542			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	122492892	G	-	122492892	7	5	270	1	0	1	0	1	0	0	0	0	1378	1103	39	0	639	0	BCL7A	12	122492892	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	385623	122492892	11359003	894	134394											
GLT1D1	144423	broad.mit.edu	37	chr12	129442187	129442187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctactgttttccaatcctcAggtaaagaaaagttctttcc	6	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:129442187A>G	uc010tbh.1	+	12	902	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	GLT1D1_uc001uhx.1_Missense_Mutation_p.Q213R|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	293					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	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)		TCCAATCCTCAGGTAAAGAAA	0.443													G	129442187	A	G	129442187	3	3	270	1	0	0	0	0	1	0	0	0	6465	202	7	3	664	3	GLT1D1	12	129442187	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	6949295	129442187	4409708	895	134395											
PUS1	80324	broad.mit.edu	37	chr12	132426054	132426054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctcgcagaaggggccGcaggatcccagtgcctgccg	13	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:132426054G>A	uc001ujf.2	+	5	1241	c.762G>A	c.(760-762)CCG>CCA	p.P254P	PUS1_uc001ujg.2_Silent_p.P226P|PUS1_uc001ujh.2_Silent_p.P226P|PUS1_uc001uji.2_Silent_p.P201P	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	254						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGAAGGGGCCGCAGGATCCCA	0.622													A	132426054	G	A	132426054	2	1	270	1	0	0	0	0	0	0	0	1	12830	1074	38	1		1	PUS1	12	132426054	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2983867	132426054	1425841	896	134396											
NOC4L	79050	broad.mit.edu	37	chr12	132632289	132632289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacaccatgcaggcagccGtggatgccgtggcccgggtc	14	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:132632289G>A	uc001ujz.1	+	5	606	c.565G>A	c.(565-567)GTG>ATG	p.V189M		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	189					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCAGGCAGCCGTGGATGCCGT	0.667													A	132632289	G	A	132632289	3	1	270	1	0	0	0	0	1	0	0	0	10515	1145	40	1	583	1	NOC4L	12	132632289	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	206235	132632289	1219606	897	134397											
EFHA1	221154	broad.mit.edu	37	chr13	22095413	22095413	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcccttttttcaatcatctCattaccatctgtatccagca	2	13	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:22095413C>A	uc001uof.2	-	6	590	c.568G>T	c.(568-570)GAG>TAG	p.E190*		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	190	EF-hand 1.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCAATCATCTCATTACCATCT	0.308													A	22095413	C	A	22095413	4	1	270	1	0	0	0	0	0	1	0	0	4943	835	29	5	764	5	EFHA1	13	22095413	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		22095413	93074465	898	134398											
SACS	26278	broad.mit.edu	37	chr13	23906308	23906308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtaaagcgcaaggtctcGtacattctcgagatcactcc	10	11	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:23906308G>A	uc001uon.2	-	10	12296	c.11707C>T	c.(11707-11709)CGA>TGA	p.R3903*	SACS_uc001uoo.2_Nonsense_Mutation_p.R3756*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3903					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GCAAGGTCTCGTACATTCTCG	0.438													A	23906308	G	A	23906308	4	1	270	1	0	0	0	0	0	1	0	0	13804	1153	40	1	2036	1	SACS	13	23906308	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1810895	23906308	91263570	899	134399											
MIPEP	4285	broad.mit.edu	37	chr13	24330693	24330693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttttaccttcaaccaTgagcatgggctccctgcctc	7	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:24330693T>C	uc001uox.3	-	18	2135	c.2035A>G	c.(2035-2037)ATG>GTG	p.M679V		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	679					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		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)		CCTTCAACCATGAGCATGGGC	0.453													C	24330693	T	C	24330693	3	2	270	1	0	0	0	0	1	0	0	0	9592	1464	51	3	114	3	MIPEP	13	24330693	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	424385	24330693	90839185	900	134400											
GSX1	219409	broad.mit.edu	37	chr13	28367140	28367140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactctgctgtgtcgcccGgggtcgctcacggcccggcc	14	17	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:28367140G>A	uc001urr.1	+	1	361	c.313G>A	c.(313-315)GGG>AGG	p.G105R		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	105					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		TGTGTCGCCCGGGGTCGCTCA	0.652													A	28367140	G	A	28367140	3	1	270	1	0	0	0	0	1	0	0	0	6849	1116	39	1	315	1	GSX1	13	28367140	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4036447	28367140	86802738	901	134401											
MTUS2	23281	broad.mit.edu	37	chr13	29599560	29599560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagggaaagagtgtgcGtcatcctaaaccatctacct	9	11	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:29599560G>A	uc001usl.3	+	1	813	c.755G>A	c.(754-756)CGT>CAT	p.R252H		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	242						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AAGAGTGTGCGTCATCCTAAA	0.562													A	29599560	G	A	29599560	3	1	270	1	0	0	0	0	1	0	0	0	9966	1145	40	1	757	1	MTUS2	13	29599560	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1232420	29599560	85570318	902	134402											
HSPH1	10808	broad.mit.edu	37	chr13	31725098	31725098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacctgttcatctttccGgaaacatctttatcattcat	3	12	5	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:31725098G>A	uc001utj.2	-	7	1292	c.894C>T	c.(892-894)TCC>TCT	p.S298S	HSPH1_uc001utk.2_Silent_p.S298S|HSPH1_uc010aaw.2_Silent_p.S257S|HSPH1_uc001utl.2_Silent_p.S300S|HSPH1_uc010tds.1_Silent_p.S222S|HSPH1_uc010tdt.1_RNA	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	298					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		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)		TCATCTTTCCGGAAACATCTT	0.388													A	31725098	G	A	31725098	2	1	270	1	0	0	0	0	0	0	0	1	7431	1103	39	1		1	HSPH1	13	31725098	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2125538	31725098	83444780	903	134403											
BRCA2	675	broad.mit.edu	37	chr13	32912670	32912670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaacttttttggaagttgCgaaagctcaagaagcatgtc	9	6	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:32912670C>T	uc001uub.1	+	11	4405	c.4178C>T	c.(4177-4179)GCG>GTG	p.A1393V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1393					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		TTGGAAGTTGCGAAAGCTCAA	0.333			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			T	32912670	C	T	32912670	3	4	270	1	0	0	0	0	1	0	0	0	1499	768	27	1	4216	1	BRCA2	13	32912670	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1187572	32912670	82257208	904	134404											
BRCA2	675	broad.mit.edu	37	chr13	32915239	32915239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaactgccaagtcatgcCacacattctctttttacatg	4	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:32915239C>T	uc001uub.1	+	11	6974	c.6747C>T	c.(6745-6747)GCC>GCT	p.A2249A		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2249					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		CAAGTCATGCCACACATTCTC	0.368			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			T	32915239	C	T	32915239	2	4	270	1	0	0	0	0	0	0	0	1	1499	581	21	4		4	BRCA2	13	32915239	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2569	32915239	82254639	905	134405											
BRCA2	675	broad.mit.edu	37	chr13	32972773	32972773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactaggactgctcccaccAgttcagaagattatctcaga	7	13	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:32972773A>G	uc001uub.1	+	27	10350	c.10123A>G	c.(10123-10125)AGT>GGT	p.S3375G		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3375					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		TGCTCCCACCAGTTCAGAAGA	0.408			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			G	32972773	A	G	32972773	3	3	270	1	0	0	0	0	1	0	0	0	1499	188	7	3	10225	3	BRCA2	13	32972773	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	57534	32972773	82197105	906	134406											
DCLK1	9201	broad.mit.edu	37	chr13	36686033	36686033	+	Frame_Shift_Del	DEL	T	T	-													ccatccaacgtgtacaggcgTttcaccactcccgagtccag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:36686032_36686032GT>G	uc001uvf.3	-	2	980	c.697_697AC>C	c.(697-699)cgcfs	p.R233fs		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	233	Doublecortin 2.				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)		GTGTACAGGCGTTTCACCACT	0.498													-	36686033	T	-	36686033	7	5	270	1	0	1	0	1	0	0	0	0	4291	1722	60	0	1557	0	DCLK1	13	36686033	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	3713260	36686033	78483845	907	134407											
SOHLH2	54937	broad.mit.edu	37	chr13	36767799	36767799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtattttaccacattaCtcattttttccattgtcagt	3	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:36767799C>T	uc001uvj.2	-	4	478	c.389G>A	c.(388-390)AGT>AAT	p.S130N	SOHLH2_uc010tei.1_Missense_Mutation_p.S207N	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	130					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		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)		TACCACATTACTCATTTTTTC	0.308													T	36767799	C	T	36767799	3	4	270	1	0	0	0	0	1	0	0	0	14924	565	20	4	920	4	SOHLH2	13	36767799	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	81766	36767799	78402079	908	134408											
SPG20	23111	broad.mit.edu	37	chr13	36905566	36905566	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcagacatttgccttaaCagatcctcaaagagctctct	7	11	3	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:36905566C>A	uc001uvn.2	-	4	1248	c.978G>T	c.(976-978)CTG>CTT	p.L326L	SPG20_uc010ten.1_Silent_p.L326L|SPG20_uc001uvm.2_Silent_p.L326L|SPG20_uc001uvo.2_Silent_p.L326L|SPG20_uc001uvq.2_Silent_p.L326L|SPG20_uc001uvp.2_Silent_p.L326L	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	326					cell death	cytoplasm	ubiquitin protein ligase binding				0		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)		TTTGCCTTAACAGATCCTCAA	0.428													A	36905566	C	A	36905566	2	1	270	1	0	0	0	0	0	0	0	1	15041	465	17	5		5	SPG20	13	36905566	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	137767	36905566	78264312	909	134409											
WBP4	11193	broad.mit.edu	37	chr13	41645700	41645700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaggatttcaaggagaCttaaaaaaggtaattgaagc	10	5	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:41645700C>T	uc001uxt.2	+	6	590	c.477C>T	c.(475-477)GAC>GAT	p.D159D	WBP4_uc010tfd.1_Silent_p.D138D	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	159					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTCAAGGAGACTTAAAAAAGG	0.269													T	41645700	C	T	41645700	2	4	270	1	0	0	0	0	0	0	0	1	17258	564	20	4		4	WBP4	13	41645700	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4740134	41645700	73524178	910	134410											
KBTBD6	89890	broad.mit.edu	37	chr13	41705322	41705323	+	Frame_Shift_Ins	INS	-	-	C													ctccagtaatagggtctcgcINSccccccaaaatgtagatata					rs147771080		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:41705321_41705322G>GC	uc001uxu.1	-	0	1615_1616	c.1326_1327C>GC	c.(1324-1329)gggcgafs	p.G442fs	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	442							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)		ATAGGGTCTCGCCCCCCCAAAA	0.47													C	41705323	-	C	41705322	7	5	270	1	0	1	1	0	0	0	0	0	7997	726	26	0	702	0	KBTBD6	13	41705322	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	59622	41705322	73464556	911	134411											
AKAP11	11215	broad.mit.edu	37	chr13	42874486	42874486	+	Frame_Shift_Del	DEL	A	A	-													taagcatggaaaccttgatcAaaaaaataaatctaaaaata							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:42874485_42874485CA>C	uc001uys.2	+	7	1778	c.1603_1603CA>C	c.(1603-1605)caafs	p.Q535fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	535					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)		AAACCTTGATCAAAAAAATAA	0.289													-	42874486	A	-	42874486	7	5	270	1	0	1	0	1	0	0	0	0	447	130	5	0	1626	0	AKAP11	13	42874486	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	1169164	42874486	72295392	912	134412											
ENOX1	55068	broad.mit.edu	37	chr13	43934138	43934138	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattttctggtaatcctccGacaaacacggtcttacaccc	6	14	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:43934138G>A	uc001uza.3	-	7	738	c.438C>T	c.(436-438)GTC>GTT	p.V146V	ENOX1_uc001uzb.3_Silent_p.V146V|ENOX1_uc001uzc.3_Silent_p.V146V|ENOX1_uc010tfm.1_5'UTR	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	146	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		GTAATCCTCCGACAAACACGG	0.378													A	43934138	G	A	43934138	2	1	270	1	0	0	0	0	0	0	0	1	5126	1045	37	1		1	ENOX1	13	43934138	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1059652	43934138	71235740	913	134413											
TSC22D1	8848	broad.mit.edu	37	chr13	45149730	45149730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctaagtcagtagcccTggaaagtgacacatcaagga	9	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:45149730T>C	uc001uzn.3	-	1	972	c.481A>G	c.(481-483)AGG>GGG	p.R161G	TSC22D1_uc001uzo.1_Missense_Mutation_p.R161G	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	161					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		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)		TCAGTAGCCCTGGAAAGTGAC	0.512													C	45149730	T	C	45149730	3	2	270	1	0	0	0	0	1	0	0	0	16604	1579	55	3	2881	3	TSC22D1	13	45149730	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1215592	45149730	70020148	914	134414											
NUFIP1	26747	broad.mit.edu	37	chr13	45563443	45563443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtggtggcggtggcggCagcattgcccagaacatcca	16	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:45563443C>T	uc001uzp.2	-	1	171	c.129G>A	c.(127-129)CTG>CTA	p.L43L	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.2_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.2_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	43	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				0		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)		GCGGTGGCGGCAGCATTGCCC	0.682													T	45563443	C	T	45563443	2	4	270	1	0	0	0	0	0	0	0	1	10748	697	25	2		2	NUFIP1	13	45563443	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	413713	45563443	69606435	915	134415											
ZC3H13	23091	broad.mit.edu	37	chr13	46559623	46559623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagtatctcgaccttcaCggtccctgtagtcatgggca	11	11	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:46559623C>T	uc010tfw.1	-	9	1535	c.1529G>A	c.(1528-1530)CGT>CAT	p.R510H	ZC3H13_uc001vas.1_Missense_Mutation_p.R510H|ZC3H13_uc001vat.1_Missense_Mutation_p.R510H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	510	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		TCGACCTTCACGGTCCCTGTA	0.483													T	46559623	C	T	46559623	3	4	270	1	0	0	0	0	1	0	0	0	17562	536	19	1	3197	1	ZC3H13	13	46559623	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	996180	46559623	68610255	916	134416											
HTR2A	3356	broad.mit.edu	37	chr13	47409176	47409176	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actaaaattaactgcaatggTtttttgttttccttgtactg	6	6	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:47409176T>G	uc001vbq.2	-	3	1346	c.1212A>C	c.(1210-1212)AAA>AAC	p.K404N	HTR2A_uc001vbr.2_Missense_Mutation_p.K304N|HTR2A_uc010acr.2_Missense_Mutation_p.K404N	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	404	Cytoplasmic (By similarity).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		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)	ACTGCAATGGTTTTTTGTTTT	0.398													G	47409176	T	G	47409176	3	3	270	1	0	0	0	0	1	0	0	0	7441	1722	60	5	207	5	HTR2A	13	47409176	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	849553	47409176	67760702	917	134417											
ATP7B	540	broad.mit.edu	37	chr13	52524252	52524252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtgcatttatagaccccGcaattacagtgcttccgggt	9	11	0	1	rs121907994		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:52524252G>A	uc001vfw.2	-	11	2778	c.2621C>T	c.(2620-2622)GCG>GTG	p.A874V	ATP7B_uc010adv.2_Missense_Mutation_p.A444V|ATP7B_uc001vfx.2_Missense_Mutation_p.A712V|ATP7B_uc001vfy.2_Missense_Mutation_p.A763V|ATP7B_uc010tgt.1_Missense_Mutation_p.A874V|ATP7B_uc010tgu.1_Missense_Mutation_p.A826V|ATP7B_uc010tgv.1_Missense_Mutation_p.A796V|ATP7B_uc001vfv.2_Missense_Mutation_p.A146V|ATP7B_uc010tgs.1_Missense_Mutation_p.A146V	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	874	Cytoplasmic (Potential).		A -> V (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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		TATAGACCCCGCAATTACAGT	0.502									Wilson_disease				A	52524252	G	A	52524252	3	1	270	1	0	0	0	0	1	0	0	0	1191	1087	38	1	1820	1	ATP7B	13	52524252	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5115076	52524252	62645626	918	134418											
PCDH8	5100	broad.mit.edu	37	chr13	53420573	53420573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagtatctcccccgtgcGgcggccgatggcgaaggctt	15	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:53420573G>T	uc001vhi.2	-	1	2202	c.1999C>A	c.(1999-2001)CGC>AGC	p.R667S	PCDH8_uc001vhj.2_Missense_Mutation_p.R667S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	667	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		TCCCCCGTGCGGCGGCCGATG	0.721													T	53420573	G	T	53420573	3	4	270	1	0	0	0	0	1	0	0	0	11517	1116	39	5	1225	5	PCDH8	13	53420573	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	896321	53420573	61749305	919	134419											
PCDH17	27253	broad.mit.edu	37	chr13	58207209	58207209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcacgcgcgacgatcacGgcctctttggactggacgtt	12	13	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:58207209G>A	uc001vhq.1	+	1	1421	c.529G>A	c.(529-531)GGC>AGC	p.G177S	PCDH17_uc010aec.1_Missense_Mutation_p.G177S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	177	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACGATCACGGCCTCTTTGG	0.642													A	58207209	G	A	58207209	3	1	270	1	0	0	0	0	1	0	0	0	11512	1116	39	1	531	1	PCDH17	13	58207209	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4786636	58207209	56962669	920	134420											
TDRD3	81550	broad.mit.edu	37	chr13	61068589	61068589	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaagacatttggaggaggTggtggtggtgctagaagtaa	16	4	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:61068589T>A	uc001via.2	+	8	1247	c.459T>A	c.(457-459)GGT>GGA	p.G153G	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Silent_p.G153G|TDRD3_uc010aeg.2_Silent_p.G246G|TDRD3_uc001vib.3_Silent_p.G152G	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	153					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TTGGAGGAGGTGGTGGTGGTG	0.353													A	61068589	T	A	61068589	2	1	270	1	0	0	0	0	0	0	0	1	15729	1683	59	5		5	TDRD3	13	61068589	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2861380	61068589	54101289	921	134421											
RBM26	64062	broad.mit.edu	37	chr13	79940860	79940861	+	Frame_Shift_Ins	INS	-	-	G													tgtaagaattggtggaggtgINSgggggagtccaggaggaggt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:79940859_79940860T>TG	uc001vkz.2	-	6	1057_1058	c.1043_1044A>CA	c.(1042-1044)ccafs	p.P348fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.P348fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.P348fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.P60fs|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	348	Pro-rich.				mRNA processing		RNA binding|nucleotide binding|protein 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)		TTGGTGGAGGTGGGGGGAGTCC	0.545													G	79940861	-	G	79940860	7	5	270	1	0	1	1	0	0	0	0	0	13126	1348	47	0	1959	0	RBM26	13	79940860	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	18872271	79940860	35229018	922	134422											
FARP1	10160	broad.mit.edu	37	chr13	99030142	99030142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtgtaatgacaccagcGcagctctcttgatttcacac	8	12	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:99030142G>A	uc001vnj.2	+	6	802	c.466G>A	c.(466-468)GCA>ACA	p.A156T	FARP1_uc001vnh.2_Missense_Mutation_p.A156T	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	156	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGACACCAGCGCAGCTCTCTT	0.453													A	99030142	G	A	99030142	3	1	270	1	0	0	0	0	1	0	0	0	5676	1087	38	1	707	1	FARP1	13	99030142	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	19089282	99030142	16139736	923	134423											
DOCK9	23348	broad.mit.edu	37	chr13	99515694	99515694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacactgatggcgatcagaCggacctcccggaactcctgg	12	14	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:99515694C>T	uc001vnt.2	-	31	3453	c.3398G>A	c.(3397-3399)CGT>CAT	p.R1133H	DOCK9_uc001vnw.2_Missense_Mutation_p.R1132H|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1133H|DOCK9_uc010tis.1_Missense_Mutation_p.R1132H|DOCK9_uc010tit.1_Missense_Mutation_p.R1133H|DOCK9_uc010tiq.1_Missense_Mutation_p.R111H|DOCK9_uc010afu.1_Missense_Mutation_p.R979H	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1133					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGCGATCAGACGGACCTCCCG	0.502													T	99515694	C	T	99515694	3	4	270	1	0	0	0	0	1	0	0	0	4694	536	19	1	2976	1	DOCK9	13	99515694	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	485552	99515694	15654184	924	134424											
ZIC2	7546	broad.mit.edu	37	chr13	100634887	100634887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcgaggtgttcgggcGctcggagcaataccgccagg	17	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:100634887G>A	uc001von.2	+	1	569	c.569G>A	c.(568-570)CGC>CAC	p.R190H		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	190	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				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTGTTCGGGCGCTCGGAGCAA	0.677													A	100634887	G	A	100634887	3	1	270	1	0	0	0	0	1	0	0	0	17676	1087	38	1	571	1	ZIC2	13	100634887	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1119193	100634887	14534991	925	134425											
NALCN	259232	broad.mit.edu	37	chr13	101881812	101881812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaactaattgctgacaTaacaatcaagaggctggcag	9	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:101881812T>C	uc001vox.1	-	13	1747	c.1558A>G	c.(1558-1560)ATG>GTG	p.M520V	NALCN_uc001voy.2_Missense_Mutation_p.M235V|NALCN_uc001voz.2_Missense_Mutation_p.M520V|NALCN_uc001vpa.2_Missense_Mutation_p.M520V	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	520	Helical; Name=S5 of repeat II; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTGCTGACATAACAATCAAG	0.368													C	101881812	T	C	101881812	3	2	270	1	0	0	0	0	1	0	0	0	10148	1406	49	3	3786	3	NALCN	13	101881812	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1246925	101881812	13288066	926	134426											
NALCN	259232	broad.mit.edu	37	chr13	102029355	102029355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatcagtggccgtggaatcCgcaacatgccccaaggtgac	11	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:102029355C>T	uc001vox.1	-	5	617	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R143Q|NALCN_uc001vpa.2_Missense_Mutation_p.R143Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	143	Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCGTGGAATCCGCAACATGCC	0.403													T	102029355	C	T	102029355	3	4	270	1	0	0	0	0	1	0	0	0	10148	652	23	1	4948	1	NALCN	13	102029355	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	147543	102029355	13140523	927	134427											
IRS2	8660	broad.mit.edu	37	chr13	110434417	110434417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtggcctccttcaagtgGtgggacaagaagtcaatgct	13	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110434417G>A	uc001vqv.2	-	1	4498	c.3984C>T	c.(3982-3984)CAC>CAT	p.H1328H		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1328				LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500).	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			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	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)			CCTTCAAGTGGTGGGACAAGA	0.692													A	110434417	G	A	110434417	2	1	270	1	0	0	0	0	0	0	0	1	7841	1252	44	4		4	IRS2	13	110434417	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	8405062	110434417	4735461	928	134428											
IRS2	8660	broad.mit.edu	37	chr13	110436712	110436712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggtccaggtcctgggcCgcgtcccccgagacccggcg	14	19	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110436712C>T	uc001vqv.2	-	1	2203	c.1689G>A	c.(1687-1689)GCG>GCA	p.A563A		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	563					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			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	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)			GGTCCTGGGCCGCGTCCCCCG	0.726													T	110436712	C	T	110436712	2	4	270	1	0	0	0	0	0	0	0	1	7841	639	23	1		1	IRS2	13	110436712	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2295	110436712	4733166	929	134429											
COL4A1	1282	broad.mit.edu	37	chr13	110814631	110814631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtagagcaaagagtaccCgtggtaaagaattttggtcc	11	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110814631C>T	uc001vqw.3	-	48	4530	c.4408G>A	c.(4408-4410)GGG>AGG	p.G1470R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1470	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			AAAGAGTACCCGTGGTAAAGA	0.512													T	110814631	C	T	110814631	3	4	270	1	0	0	0	0	1	0	0	0	3689	652	23	1	621	1	COL4A1	13	110814631	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	377919	110814631	4355247	930	134430											
COL4A1	1282	broad.mit.edu	37	chr13	110835356	110835356	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttacctttggggccggggggCcctggaaatccaatgcctgg	15	11	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110835356C>G	uc001vqw.3	-	28	2201	c.2079G>C	c.(2077-2079)GGG>GGC	p.G693G	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	693	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			GGCCGGGGGGCCCTGGAAATC	0.612													G	110835356	C	G	110835356	2	3	270	1	0	0	0	0	0	0	0	1	3689	726	26	5		5	COL4A1	13	110835356	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	20725	110835356	4334522	931	134431											
COL4A1	1282	broad.mit.edu	37	chr13	110838821	110838822	+	Frame_Shift_Ins	INS	-	-	G													accatatcctggaggcccagINSgggggccggtgtcaccacga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110838820_110838821A>AG	uc001vqw.4	-	25	1930_1931	c.1808_1809T>CT	c.(1807-1809)cctfs	p.P603fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	603	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)			CTGGAGGCCCAGGGGGGCCGGT	0.599													G	110838822	-	G	110838821	7	5	270	1	0	1	1	0	0	0	0	0	3689	1000	35	0	3309	0	COL4A1	13	110838821	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	3465	110838821	4331057	932	134432											
FLJ10357	55701	broad.mit.edu	37	chr14	21542925	21542925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtgggagaagcctccGgatcttgccccctgaggcca	14	13	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:21542925G>A	uc001vzp.2	+	3	1065	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R	FLJ10357_uc001vzn.1_Missense_Mutation_p.G346R|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	346	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AGAAGCCTCCGGATCTTGCCC	0.652													A	21542925	G	A	21542925	3	1	270	1	0	0	0	0	1	0	0	0	5926	1117	39	1	1046	1	FLJ10357	14	21542925	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08		21542925	85806615	933	134433											
LRP10	26020	broad.mit.edu	37	chr14	23345071	23345071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgccacctaccatgtgcGgggctattgcttgccttggg	12	12	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:23345071G>A	uc001whd.2	+	5	1467	c.914G>A	c.(913-915)CGG>CAG	p.R305Q	LRP10_uc001whe.2_Missense_Mutation_p.R181Q	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	305	CUB 2.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TACCATGTGCGGGGCTATTGC	0.592													A	23345071	G	A	23345071	3	1	270	1	0	0	0	0	1	0	0	0	8952	1116	39	1	932	1	LRP10	14	23345071	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1802146	23345071	84004469	934	134434											
EFS	10278	broad.mit.edu	37	chr14	23829042	23829042	+	Frame_Shift_Del	DEL	G	G	-													ttggagggggcagcatagatGgggggccccggctcccggcc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:23829041_23829041TG>T	uc001wjo.3	-	3	1254	c.646_646CA>A	c.(646-648)atcfs	p.I216fs	EFS_uc001wjp.3_Frame_Shift_Del_p.I123fs|EFS_uc010tnm.2_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	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)		GCAGCATAGATGGGGGGCCCC	0.612													-	23829042	G	-	23829042	7	5	270	1	0	1	0	1	0	0	0	0	4959	1335	47	0	1052	0	EFS	14	23829042	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	483971	23829042	83520498	935	134435											
JPH4	84502	broad.mit.edu	37	chr14	24041061	24041061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctatcagtttggccattCgagctgcctccacggccttc	11	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:24041061C>T	uc001wkq.2	-	5	2138	c.1220G>A	c.(1219-1221)CGA>CAA	p.R407Q	JPH4_uc010tnr.1_Missense_Mutation_p.R72Q|JPH4_uc001wkr.2_Missense_Mutation_p.R407Q	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	407	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTTGGCCATTCGAGCTGCCTC	0.632													T	24041061	C	T	24041061	3	4	270	1	0	0	0	0	1	0	0	0	7963	884	31	1	678	1	JPH4	14	24041061	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	212019	24041061	83308479	936	134436											
PRKD1	5587	broad.mit.edu	37	chr14	30100065	30100065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacgccactggtgagaaCactgttatttggtgatgggc	12	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:30100065C>T	uc001wqh.2	-	10	1736	c.1555G>A	c.(1555-1557)GTT>ATT	p.V519I		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	519	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTGGTGAGAACACTGTTATTT	0.512													T	30100065	C	T	30100065	3	4	270	1	0	0	0	0	1	0	0	0	12518	478	17	4	1219	4	PRKD1	14	30100065	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6059004	30100065	77249475	937	134437											
ARHGAP5	394	broad.mit.edu	37	chr14	32561268	32561268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggatgaagcctacaaaTatatcactgaggctgatagc	11	7	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:32561268T>C	uc001wrl.2	+	2	1632	c.1393T>C	c.(1393-1395)TAT>CAT	p.Y465H	ARHGAP5_uc001wrm.2_Missense_Mutation_p.Y465H|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Y465H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	465	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		AGCCTACAAATATATCACTGA	0.378													C	32561268	T	C	32561268	3	2	270	1	0	0	0	0	1	0	0	0	886	1406	49	3	1395	3	ARHGAP5	14	32561268	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2461203	32561268	74788272	938	134438											
ARHGAP5	394	broad.mit.edu	37	chr14	32562545	32562546	+	Frame_Shift_Ins	INS	-	-	T													ttactgacagccaagcagatINSttttttgaaaatgaggctat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:32562544_32562545A>AT	uc001wrl.3	+	1	2908_2909	c.2669_2670A>AT	c.(2668-2670)gatfs	p.D890fs	ARHGAP5_uc001wrm.3_Frame_Shift_Ins_p.D890fs|ARHGAP5_uc001wrn.3_Frame_Shift_Ins_p.D890fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	890					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.F892fs*9(2)|p.D890V(2)		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)		AGCCAAGCAGATTTTTTTGAAA	0.406													T	32562546	-	T	32562545	7	5	270	1	0	1	1	0	0	0	0	0	886	1490	52	0	2672	0	ARHGAP5	14	32562545	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1277	32562545	74786995	939	134439											
AKAP6	9472	broad.mit.edu	37	chr14	33291546	33291546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttgataaaaaatcatgCaaatctaaacatcagactac	3	7	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:33291546C>T	uc001wrq.2	+	13	4697	c.4527C>T	c.(4525-4527)TGC>TGT	p.C1509C		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1509					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		AAAAATCATGCAAATCTAAAC	0.368													T	33291546	C	T	33291546	2	4	270	1	0	0	0	0	0	0	0	1	455	718	25	2		2	AKAP6	14	33291546	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	729001	33291546	74057994	940	134440											
NPAS3	64067	broad.mit.edu	37	chr14	34269096	34269096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacccggacagccgcgacaGcgacgacagcttcgagcact	11	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:34269096G>A	uc001wru.2	+	12	1647	c.1583G>A	c.(1582-1584)AGC>AAC	p.S528N	NPAS3_uc001wrs.2_Missense_Mutation_p.S515N|NPAS3_uc001wrt.2_Missense_Mutation_p.S496N|NPAS3_uc001wrv.2_Missense_Mutation_p.S498N	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		AGCCGCGACAGCGACGACAGC	0.642													A	34269096	G	A	34269096	3	1	270	1	0	0	0	0	1	0	0	0	10564	971	34	2	1684	2	NPAS3	14	34269096	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	977550	34269096	73080444	941	134441											
BAZ1A	11177	broad.mit.edu	37	chr14	35245412	35245412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacctgaggatcttgagacTgtacattattctgaaatgat	8	6	2	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:35245412T>C	uc001wsk.2	-	18	3114	c.2546A>G	c.(2545-2547)CAG>CGG	p.Q849R	BAZ1A_uc001wsl.2_Missense_Mutation_p.Q817R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	849	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		ATCTTGAGACTGTACATTATT	0.423													C	35245412	T	C	35245412	3	2	270	1	0	0	0	0	1	0	0	0	1329	1580	55	3	2164	3	BAZ1A	14	35245412	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	976316	35245412	72104128	942	134442											
RALGAPA1	253959	broad.mit.edu	37	chr14	36074845	36074845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgacttcctcctgtatTggtgagaatggagtgtttgt	12	6	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:36074845T>C	uc001wti.2	-	35	5873	c.5482A>G	c.(5482-5484)AAT>GAT	p.N1828D	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.N1828D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N1841D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N1875D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1828	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			ovary(3)|breast(1)	4						CCTCCTGTATTGGTGAGAATG	0.338													C	36074845	T	C	36074845	3	2	270	1	0	0	0	0	1	0	0	0	13013	1812	63	3	805	3	RALGAPA1	14	36074845	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	829433	36074845	71274695	943	134443											
POLE2	5427	broad.mit.edu	37	chr14	50140860	50140860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggtgcaaaatggtatatCgctcacgaaacatctctgct	8	11	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:50140860C>T	uc001wwu.2	-	5	412	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	SDCCAG1_uc010anj.1_Intron|POLE2_uc001wwv.2_RNA	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	133					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	DNA binding|DNA-directed DNA polymerase activity	p.R133Q(1)		ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					AATGGTATATCGCTCACGAAA	0.423													T	50140860	C	T	50140860	3	4	270	1	0	0	0	0	1	0	0	0	12197	884	31	1	1245	1	POLE2	14	50140860	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	14066015	50140860	57208680	944	134444											
NID2	22795	broad.mit.edu	37	chr14	52478332	52478332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcacggctgattgtccGtccagcaacatctgtccagt	9	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:52478332G>A	uc001wzo.2	-	17	3724	c.3490C>T	c.(3490-3492)CGG>TGG	p.R1164W	NID2_uc010tqs.1_Missense_Mutation_p.R1116W|NID2_uc010tqt.1_Missense_Mutation_p.R1164W	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1164	LDL-receptor class B 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGATTGTCCGTCCAGCAACA	0.488													A	52478332	G	A	52478332	3	1	270	1	0	0	0	0	1	0	0	0	10415	1144	40	1	661	1	NID2	14	52478332	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2337472	52478332	54871208	945	134445											
SOCS4	122809	broad.mit.edu	37	chr14	55509879	55509880	+	Frame_Shift_Ins	INS	-	-	A													gaaagaagttatcttggtcaINSaaaaagagtgagagttattc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:55509878_55509879C>CA	uc021rti.1	+	0	119_120	c.119_120C>CA	c.(118-120)tcafs	p.S40fs	SOCS4_uc001xbo.3_Frame_Shift_Ins_p.S40fs|SOCS4_uc001xbp.3_Frame_Shift_Ins_p.S40fs	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	40					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTATCTTGGTCAAAAAAGAGTG	0.401													A	55509880	-	A	55509879	7	5	270	1	0	1	1	0	0	0	0	0	14916	117	5	0	122	0	SOCS4	14	55509879	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	3031547	55509879	51839661	946	134446											
KTN1	3895	broad.mit.edu	37	chr14	56119761	56119762	+	Frame_Shift_Ins	INS	-	-	A													aagaagaaaatgaatctttaINSaaagcacatgttcaggaagt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:56119760_56119761T>TA	uc001xcb.3	+	27	3022_3023	c.2720_2721T>TA	c.(2719-2721)ttafs	p.L907fs	KTN1_uc001xcc.3_Frame_Shift_Ins_p.L907fs|KTN1_uc001xcd.3_Frame_Shift_Ins_p.L884fs|KTN1_uc001xce.3_Frame_Shift_Ins_p.L907fs|KTN1_uc010trb.2_Frame_Shift_Ins_p.L907fs|KTN1_uc001xcf.1_Frame_Shift_Ins_p.L884fs|KTN1_uc010aoq.3_Frame_Shift_Ins_p.L202fs	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	907					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AATGAATCTTTAAAAGCACATG	0.257			T	RET	papillary thryoid								A	56119762	-	A	56119761	7	5	270	1	0	1	1	0	0	0	0	0	8585	359	13	0	2823	0	KTN1	14	56119761	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	609882	56119761	51229779	947	134447											
OTX2	5015	broad.mit.edu	37	chr14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-													cctctcccggcgctgtttccGgggggtggctgcgggacaag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632													-	57271049	G	-	57271049	7	5	270	1	0	1	0	1	0	0	0	0	11321	1115	39	0	771	0	OTX2	14	57271049	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	1151288	57271049	50078491	948	134448											
PPM1A	5494	broad.mit.edu	37	chr14	60758133	60758133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaatgttattgaagcCgtttacaatagactgaatcc	10	6	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:60758133C>T	uc010apn.2	+	6	1482	c.1080C>T	c.(1078-1080)GCC>GCT	p.A360A	PPM1A_uc001xew.3_Silent_p.A433A|PPM1A_uc001xey.3_Silent_p.A360A	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	360					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			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TTATTGAAGCCGTTTACAATA	0.358													T	60758133	C	T	60758133	2	4	270	1	0	0	0	0	0	0	0	1	12335	639	23	1		1	PPM1A	14	60758133	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3487084	60758133	46591407	949	134449											
TMEM30B	161291	broad.mit.edu	37	chr14	61747056	61747056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccgagtagttgccctgGcggatgcgcgcgtacagttt	15	12	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:61747056G>A	uc001xfl.2	-	1	1475	c.810C>T	c.(808-810)CGC>CGT	p.R270R	PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	270						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		AGTTGCCCTGGCGGATGCGCG	0.667													A	61747056	G	A	61747056	2	1	270	1	0	0	0	0	0	0	0	1	16151	1190	42	2		2	TMEM30B	14	61747056	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	988923	61747056	45602484	950	134450											
SYNE2	23224	broad.mit.edu	37	chr14	64494437	64494437	+	Frame_Shift_Del	DEL	A	A	-													actacctcttggagtgcactAaaaatcccagcttcagtgaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:64494436_64494436TA>T	uc001xgl.3	+	42	6869	c.6639_6639TA>T	c.(6637-6639)actfs	p.T2213fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.T2213fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.T2213fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2213					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	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)		TGGAGTGCACTAAAAATCCCA	0.393													-	64494437	A	-	64494437	7	5	270	1	0	1	0	1	0	0	0	0	15443	363	13	0	6806	0	SYNE2	14	64494437	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	2747381	64494437	42855103	951	134451											
SYNE2	23224	broad.mit.edu	37	chr14	64519599	64519599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttaaagacagactcaccGctattaagtgttgcatctta	6	9	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:64519599G>A	uc001xgm.2	+	48	9198	c.8968G>A	c.(8968-8970)GCT>ACT	p.A2990T	SYNE2_uc001xgl.2_Missense_Mutation_p.A2990T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2990	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGACTCACCGCTATTAAGTG	0.348													A	64519599	G	A	64519599	3	1	270	1	0	0	0	0	1	0	0	0	15443	1087	38	1	9154	1	SYNE2	14	64519599	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	25162	64519599	42829941	952	134452											
AKAP5	9495	broad.mit.edu	37	chr14	64935359	64935359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcctgggcctcactcAaacgtcttgtaacacgcagg	14	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:64935359A>G	uc001xhd.3	+	2	625	c.247A>G	c.(247-249)AAA>GAA	p.K83E	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	83	Essential to the intracellular anchoring function (By similarity).|AKAP.				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				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GGCCTCACTCAAACGTCTTGT	0.522													G	64935359	A	G	64935359	3	3	270	1	0	0	0	0	1	0	0	0	454	131	5	3	249	3	AKAP5	14	64935359	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	415760	64935359	42414181	953	134453											
HSPA2	3306	broad.mit.edu	37	chr14	65007975	65007975	+	Frame_Shift_Del	DEL	G	G	-													gagatcgcggaagcctacctGgggggcaaggtgcacagcgc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:65007974_65007974TG>T	uc001xhj.3	+	1	483	c.407_407TG>T	c.(406-408)ctgfs	p.L136fs	HSPA2_uc001xhk.4_Frame_Shift_Del_p.L136fs	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	136					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)		GAAGCCTACCTGGGGGGCAAG	0.582													-	65007975	G	-	65007975	7	5	270	1	0	1	0	1	0	0	0	0	7411	1335	47	0	410	0	HSPA2	14	65007975	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	72616	65007975	42341565	954	134454											
FUT8	2530	broad.mit.edu	37	chr14	66190983	66190984	+	Frame_Shift_Ins	INS	-	-	A													acgcagaatgcaagtggacaINSaaaaaagagtgtatttggcc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:66190982_66190983C>CA	uc001xin.3	+	8	2927_2928	c.1200_1201C>CA	c.(1198-1203)gacaaafs	p.D400fs	FUT8_uc001xio.3_Frame_Shift_Ins_p.D400fs|FUT8_uc010tsp.2_Frame_Shift_Ins_p.D237fs|FUT8_uc001xir.4_Intron|FUT8_uc001xip.3_Frame_Shift_Ins_p.D400fs|FUT8_uc001xiq.3_Frame_Shift_Ins_p.D271fs|FUT8_uc021ruy.1_Frame_Shift_Ins_p.D271fs	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	400					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCAAGTGGACAAAAAAAGAGT	0.421													A	66190984	-	A	66190983	7	5	270	1	0	1	1	0	0	0	0	0	6110	131	5	0	1326	0	FUT8	14	66190983	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1183008	66190983	41158557	955	134455											
RGS6	9628	broad.mit.edu	37	chr14	72818835	72818835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacaaagatgcaagatgaCaagacagggggtgtgcccat	12	7	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:72818835C>T	uc001xna.3	+	3	640	c.117C>T	c.(115-117)GAC>GAT	p.D39D	RGS6_uc010ttn.1_Silent_p.D39D|RGS6_uc001xmx.3_Silent_p.D39D|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.D39D	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	39					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			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		TGCAAGATGACAAGACAGGGG	0.398													T	72818835	C	T	72818835	2	4	270	1	0	0	0	0	0	0	0	1	13309	477	17	4		4	RGS6	14	72818835	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6627852	72818835	34530705	956	134456											
ACOT1	641371	broad.mit.edu	37	chr14	74009913	74009913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggcgagaccctgcccCctgtgggcgtcaacagaaat	12	13	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:74009913C>T	uc001xol.1	+	3	1018	c.820C>T	c.(820-822)CCT>TCT	p.P274S	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	274					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GACCCTGCCCCCTGTGGGCGT	0.557													T	74009913	C	T	74009913	3	4	270	1	0	0	0	0	1	0	0	0	148	623	22	4	830	4	ACOT1	14	74009913	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1191078	74009913	33339627	957	134457											
C14orf43	91748	broad.mit.edu	37	chr14	74205578	74205578	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgcaggggccagtgAtgtaggaacaggttgccagt	17	8	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:74205578A>C	uc001xot.2	-	2	1917	c.1134T>G	c.(1132-1134)CAT>CAG	p.H378Q	C14orf43_uc001xou.2_Missense_Mutation_p.H378Q|C14orf43_uc010tud.1_Missense_Mutation_p.H378Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	378	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGGGCCAGTGATGTAGGAACA	0.682													C	74205578	A	C	74205578	3	2	270	1	0	0	0	0	1	0	0	0	1774	330	12	5	2047	5	C14orf43	14	74205578	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	195665	74205578	33143962	958	134458											
ALDH6A1	4329	broad.mit.edu	37	chr14	74534179	74534179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaaagagccatgcagcGctgaccagcagctccaaatg	11	11	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:74534179G>A	uc001xpo.2	-	8	1045	c.946C>T	c.(946-948)CGC>TGC	p.R316C	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.R161C|ALDH6A1_uc010tuq.1_Missense_Mutation_p.R303C	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	316						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GCCATGCAGCGCTGACCAGCA	0.522													A	74534179	G	A	74534179	3	1	270	1	0	0	0	0	1	0	0	0	503	1087	38	1	681	1	ALDH6A1	14	74534179	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	328601	74534179	32815361	959	134459											
MLH3	27030	broad.mit.edu	37	chr14	75513915	75513915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggttgacaactactaTctgaatcactatgctccata	6	10	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:75513915T>C	uc001xrd.1	-	2	2660	c.2444A>G	c.(2443-2445)GAT>GGT	p.D815G	MLH3_uc001xre.1_Missense_Mutation_p.D815G|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	815					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACAACTACTATCTGAATCACT	0.403								MMR					C	75513915	T	C	75513915	3	2	270	1	0	0	0	0	1	0	0	0	9618	1435	50	3	1965	3	MLH3	14	75513915	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	979736	75513915	31835625	960	134460											
TGFB3	7043	broad.mit.edu	37	chr14	76429726	76429726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccgggttgtcgagccGgtgtgggggaatcatcatga	17	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:76429726G>A	uc001xsc.2	-	5	1715	c.859C>T	c.(859-861)CGG>TGG	p.R287W	TGFB3_uc001xsd.2_Missense_Mutation_p.R285W	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	287					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			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTGTCGAGCCGGTGTGGGGGA	0.572													A	76429726	G	A	76429726	3	1	270	1	0	0	0	0	1	0	0	0	15816	1115	39	1	391	1	TGFB3	14	76429726	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	915811	76429726	30919814	961	134461											
C14orf4	64207	broad.mit.edu	37	chr14	77492017	77492017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtccgctgttggccaTgggggaatccggaatgtttt	17	7	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:77492017T>C	uc001xsy.2	-	1	3018	c.2119A>G	c.(2119-2121)ATG>GTG	p.M707V		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	707						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CTGTTGGCCATGGGGGAATCC	0.592													C	77492017	T	C	77492017	3	2	270	1	0	0	0	0	1	0	0	0	1773	1464	51	3	275	3	C14orf4	14	77492017	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1062291	77492017	29857523	962	134462											
TMEM63C	57156	broad.mit.edu	37	chr14	77712359	77712359	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtcattctgccctctatgGgactgaccaggtacctcact	8	13	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:77712359G>T	uc001xtf.2	+	17	1737	c.1525G>T	c.(1525-1527)GGA>TGA	p.G509*	TMEM63C_uc010asq.1_Nonsense_Mutation_p.G509*	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	509	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCCCTCTATGGGACTGACCAG	0.453													T	77712359	G	T	77712359	4	4	270	1	0	0	0	0	0	1	0	0	16189	1233	43	5	1583	5	TMEM63C	14	77712359	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	220342	77712359	29637181	963	134463											
TMEM63C	57156	broad.mit.edu	37	chr14	77715752	77715752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcccaggccatctttgcGccactcttgggtctgttctg	10	14	5	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:77715752G>A	uc001xtf.2	+	21	2201	c.1989G>A	c.(1987-1989)GCG>GCA	p.A663A	TMEM63C_uc010asq.1_Silent_p.A663A	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	663	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCATCTTTGCGCCACTCTTGG	0.557													A	77715752	G	A	77715752	2	1	270	1	0	0	0	0	0	0	0	1	16189	1074	38	1		1	TMEM63C	14	77715752	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3393	77715752	29633788	964	134464											
NRXN3	9369	broad.mit.edu	37	chr14	80328022	80328022	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcaaaccccacggagccGggaatcagacgggttccggg	14	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:80328022G>T	uc001xun.2	+	17	3392	c.2901G>T	c.(2899-2901)CCG>CCT	p.P967P	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.P543P|NRXN3_uc010asw.2_Silent_p.P365P|NRXN3_uc001xur.3_Silent_p.P338P	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1549	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCACGGAGCCGGGAATCAGAC	0.597													T	80328022	G	T	80328022	2	4	270	1	0	0	0	0	0	0	0	1	10667	1103	39	5		5	NRXN3	14	80328022	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2612270	80328022	27021518	965	134465											
BTBD7	55727	broad.mit.edu	37	chr14	93723553	93723553	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acacttactgcatcacttaaGacttcactgtttataggtaa	5	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:93723553G>A	uc001ybo.2	-	6	1922	c.1596C>T	c.(1594-1596)GTC>GTT	p.V532V	BTBD7_uc010aur.2_Silent_p.V57V|BTBD7_uc010two.1_Silent_p.V352V|BTBD7_uc001ybp.2_Silent_p.V181V|BTBD7_uc001ybq.3_Silent_p.V447V	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	532										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CATCACTTAAGACTTCACTGT	0.353													A	93723553	G	A	93723553	2	1	270	1	0	0	0	0	0	0	0	1	1546	929	33	4		4	BTBD7	14	93723553	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	13395531	93723553	13625987	966	134466											
KIAA1409	57578	broad.mit.edu	37	chr14	94007040	94007040	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagttccatgctgagcagCgagaacatgagctgaaccgg	13	11	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:94007040C>T	uc001ybv.1	+	10	939	c.856C>T	c.(856-858)CGA>TGA	p.R286*	KIAA1409_uc001ybs.1_Nonsense_Mutation_p.R286*|KIAA1409_uc001ybu.1_Nonsense_Mutation_p.R224*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	463						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGCTGAGCAGCGAGAACATGA	0.483													T	94007040	C	T	94007040	4	4	270	1	0	0	0	0	0	1	0	0	8230	760	27	1	894	1	KIAA1409	14	94007040	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	283487	94007040	13342500	967	134467											
SERPINA4	5267	broad.mit.edu	37	chr14	95033573	95033573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtggaacaacttgttgCggaagaggtaatcagtgtgc	15	5	1	2	rs143608450	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:95033573C>T	uc001ydk.2	+	3	982	c.916C>T	c.(916-918)CGG>TGG	p.R306W	SERPINA4_uc010avd.2_Missense_Mutation_p.R343W|SERPINA4_uc001ydl.2_Missense_Mutation_p.R306W	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	306					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		CAACTTGTTGCGGAAGAGGTA	0.433													T	95033573	C	T	95033573	3	4	270	1	0	0	0	0	1	0	0	0	14091	759	27	1	922	1	SERPINA4	14	95033573	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1026533	95033573	12315967	968	134468											
RCOR1	23186	broad.mit.edu	37	chr14	103059413	103059413	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgcctcagccgccgccGcccccaataatggccagaat	9	20	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:103059413G>C	uc001ymb.2	+	1	181	c.181G>C	c.(181-183)GCC>CCC	p.A61P		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	61	Ala-rich.				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			ovary(1)	1						agccgccgccgccCCCAATAA	0.299													C	103059413	G	C	103059413	3	2	270	1	0	0	0	0	1	0	0	0	13182	1087	38	5	183	5	RCOR1	14	103059413	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	8025840	103059413	4290127	969	134469											
KLC1	3831	broad.mit.edu	37	chr14	104145810	104145810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagccgtgagagcctcaaCgtggacgtggtcaagtacga	15	9	2	1	rs149675489		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:104145810C>T	uc001yno.2	+	13	1886	c.1578C>T	c.(1576-1578)AAC>AAT	p.N526N	KLC1_uc010tyd.1_Silent_p.N685N|KLC1_uc010tye.1_Silent_p.N547N|KLC1_uc001ynm.1_Silent_p.N526N|KLC1_uc001ynn.1_Silent_p.N520N|KLC1_uc010tyf.1_Silent_p.N526N|KLC1_uc001ynp.1_RNA|KLC1_uc001ynr.1_Silent_p.N36N|KLC1_uc010awu.1_RNA|KLC1_uc001ynq.1_Silent_p.N36N|KLC1_uc001yns.2_RNA	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	526					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGAGCCTCAACGTGGACGTGG	0.567													T	104145810	C	T	104145810	2	4	270	1	0	0	0	0	0	0	0	1	8333	535	19	1		1	KLC1	14	104145810	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1086397	104145810	3203730	970	134470											
XRCC3	7517	broad.mit.edu	37	chr14	104165791	104165791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcctggccctgggggcGgaggcctggctgtcaaattc	16	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:104165791G>A	uc001yny.3	-	8	1064	c.684C>T	c.(682-684)TCC>TCT	p.S228S	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.S228S|XRCC3_uc001ynz.3_Silent_p.S228S|XRCC3_uc001yoa.3_Silent_p.S228S	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	228					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CCCTGGGGGCGGAGGCCTGGC	0.642								Direct_reversal_of_damage|Homologous_recombination					A	104165791	G	A	104165791	2	1	270	1	0	0	0	0	0	0	0	1	17451	1103	39	1		1	XRCC3	14	104165791	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	19981	104165791	3183749	971	134471											
AHNAK2	113146	broad.mit.edu	37	chr14	105407964	105407964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggtccccctcaagccgCgcaccatccagcatggatcc	9	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105407964C>T	uc010axc.1	-	7	13944	c.13824G>A	c.(13822-13824)GCG>GCA	p.A4608A	AHNAK2_uc001ypx.2_Silent_p.A4508A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4608						nucleus				ovary(1)	1		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)			CCTCAAGCCGCGCACCATCCA	0.587													T	105407964	C	T	105407964	2	4	270	1	0	0	0	0	0	0	0	1	415	755	27	1		1	AHNAK2	14	105407964	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1242173	105407964	1941576	972	134472											
AHNAK2	113146	broad.mit.edu	37	chr14	105410343	105410343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacttgcctggggcagaCaccccaaatgacggcatctt	11	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105410343C>T	uc010axc.1	-	7	11565	c.11445G>A	c.(11443-11445)GTG>GTA	p.V3815V	AHNAK2_uc001ypx.2_Silent_p.V3715V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3815						nucleus				ovary(1)	1		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)			CTGGGGCAGACACCCCAAATG	0.587													T	105410343	C	T	105410343	2	4	270	1	0	0	0	0	0	0	0	1	415	465	17	4		4	AHNAK2	14	105410343	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2379	105410343	1939197	973	134473											
JAG2	3714	broad.mit.edu	37	chr14	105618041	105618041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcatggcaagagccccCgttggcacacgggttggagg	14	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105618041C>T	uc001yqg.2	-	8	1479	c.1075G>A	c.(1075-1077)GGG>AGG	p.G359R	JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Missense_Mutation_p.G359R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	359	EGF-like 4.|Extracellular (Potential).				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			lung(3)|breast(2)	5		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)		CAAGAGCCCCCGTTGGCACAC	0.667													T	105618041	C	T	105618041	3	4	270	1	0	0	0	0	1	0	0	0	7935	652	23	1	2717	1	JAG2	14	105618041	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	207698	105618041	1731499	974	134474											
BRF1	2972	broad.mit.edu	37	chr14	105683991	105683991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtgcatcctccctgtgCggactgcccccgccggcgct	13	18	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105683991C>T	uc001yqp.2	-	15	2025	c.1662G>A	c.(1660-1662)CCG>CCA	p.P554P	BRF1_uc010tyo.1_Silent_p.P439P|BRF1_uc010typ.1_Silent_p.P461P|BRF1_uc001yqk.2_Silent_p.P80P|BRF1_uc001yql.2_Silent_p.P350P|BRF1_uc001yqo.2_Silent_p.P316P|BRF1_uc010axg.1_Silent_p.P527P|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Silent_p.P80P	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	554					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			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		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)		CCTCCCTGTGCGGACTGCCCC	0.637													T	105683991	C	T	105683991	2	4	270	1	0	0	0	0	0	0	0	1	1510	755	27	1		1	BRF1	14	105683991	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	65950	105683991	1665549	975	134475											
MKRN3	7681	broad.mit.edu	37	chr15	23812238	23812238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggccaggtggtgggTcattcagcgcatactggcat	14	11	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:23812238T>C	uc001ywh.3	+	1	1785	c.1309T>C	c.(1309-1311)TCA>CCA	p.S437P	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	437						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		AGGTGGTGGGTCATTCAGCGC	0.537													C	23812238	T	C	23812238	3	2	270	1	0	0	0	0	1	0	0	0	9608	1667	58	3	1311	3	MKRN3	15	23812238	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08		23812238	78719154	976	134476											
HERC2	8924	broad.mit.edu	37	chr15	28483908	28483908	+	Frame_Shift_Del	DEL	A	A	-													tttctacagttctgacctgtAaaaaatgactctgtatatac							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:28483907_28483907TA>T	uc001zbj.3	-	23	3695	c.3589_3589TA>A	c.(3589-3591)acafs	p.T1197fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1197					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)		TTCTGACCTGTAAAAAATGAC	0.368													-	28483908	A	-	28483908	7	5	270	1	0	1	0	1	0	0	0	0	7058	359	13	0	11196	0	HERC2	15	28483908	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	4671670	28483908	74047484	977	134477											
RYR3	6263	broad.mit.edu	37	chr15	33928729	33928729	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggctctgaacttgccttCgctgactacgagattgagaa	10	9	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:33928729C>T	uc001zhi.2	+	27	3604	c.3534C>T	c.(3532-3534)TTC>TTT	p.F1178F	RYR3_uc010bar.2_Silent_p.F1178F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1178	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		AACTTGCCTTCGCTGACTACG	0.493													T	33928729	C	T	33928729	2	4	270	1	0	0	0	0	0	0	0	1	13770	883	31	1		1	RYR3	15	33928729	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5444821	33928729	68602663	978	134478											
SPRED1	161742	broad.mit.edu	37	chr15	38632012	38632012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacagttgttaccagtgaGccttatagaagctcaaatat	9	7	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:38632012G>A	uc001zka.3	+	5	833	c.498G>A	c.(496-498)GAG>GAA	p.E166E		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	166					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		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)		TTACCAGTGAGCCTTATAGAA	0.403									Legius_syndrome				A	38632012	G	A	38632012	2	1	270	1	0	0	0	0	0	0	0	1	15091	962	34	2		2	SPRED1	15	38632012	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4703283	38632012	63899380	979	134479											
C15orf54	400360	broad.mit.edu	37	chr15	39544753	39544753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcaacaaagcgtgtgtgCactatattggctgactcttg	10	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:39544753C>T	uc001zkg.2	+	2	785	c.417C>T	c.(415-417)TGC>TGT	p.C139C		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	139											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AGCGTGTGTGCACTATATTGG	0.473													T	39544753	C	T	39544753	2	4	270	1	0	0	0	0	0	0	0	1	1802	718	25	2		2	C15orf54	15	39544753	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	912741	39544753	62986639	980	134480											
THBS1	7057	broad.mit.edu	37	chr15	39885727	39885727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttgtgatgtggaagcAagtcacccagtcctactggg	12	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:39885727A>G	uc001zkh.2	+	19	3304	c.3125A>G	c.(3124-3126)CAA>CGA	p.Q1042R	THBS1_uc010bbi.2_Missense_Mutation_p.Q514R	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1042	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			ovary(3)|central_nervous_system(3)	6		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)	ATGTGGAAGCAAGTCACCCAG	0.537													G	39885727	A	G	39885727	3	3	270	1	0	0	0	0	1	0	0	0	15850	130	5	3	3195	3	THBS1	15	39885727	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	340974	39885727	62645665	981	134481											
EIF2AK4	440275	broad.mit.edu	37	chr15	40318214	40318214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaggcagacagagaagCgtgtgctggagactgaactt	15	6	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:40318214C>T	uc001zkm.1	+	33	4476	c.4426C>T	c.(4426-4428)CGT>TGT	p.R1476C	EIF2AK4_uc010bbj.1_Missense_Mutation_p.R1177C|EIF2AK4_uc001zkn.1_Missense_Mutation_p.R576C|EIF2AK4_uc001zko.1_Missense_Mutation_p.R357C|EIF2AK4_uc010bbk.1_Intron	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1476	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		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)		GACAGAGAAGCGTGTGCTGGA	0.443													T	40318214	C	T	40318214	3	4	270	1	0	0	0	0	1	0	0	0	4999	768	27	1	4556	1	EIF2AK4	15	40318214	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	432487	40318214	62213178	982	134482											
BUB1B	701	broad.mit.edu	37	chr15	40512768	40512768	+	Frame_Shift_Del	DEL	A	A	-													gttttatatatttttaggctAaaagatggtgaattgtggaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:40512767_40512767TA>T	uc001zkx.4	+	22	3172	c.2960_2960TA>T	c.(2959-2961)ctafs	p.L987fs	PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	987	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)		ATTTTTAGGCTAAAAGATGGT	0.353			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				-	40512768	A	-	40512768	7	5	270	1	0	1	0	1	0	0	0	0	1571	349	13	0	3051	0	BUB1B	15	40512768	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	194554	40512768	62018624	983	134483											
RPUSD2	27079	broad.mit.edu	37	chr15	40865952	40865952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagattcgagtccaccttcAgttcttgggccatcccattc	7	15	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:40865952A>G	uc001zmd.1	+	3	1130	c.1130A>G	c.(1129-1131)CAG>CGG	p.Q377R		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	377					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GTCCACCTTCAGTTCTTGGGC	0.577													G	40865952	A	G	40865952	3	3	270	1	0	0	0	0	1	0	0	0	13667	188	7	3	1140	3	RPUSD2	15	40865952	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	353184	40865952	61665440	984	134484											
VPS18	57617	broad.mit.edu	37	chr15	41188187	41188187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatcttcacaaagcagcGcattgacttcaccccttccg	6	17	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:41188187G>A	uc001zne.2	+	2	482	c.143G>A	c.(142-144)CGC>CAC	p.R48H		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	48					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		ACAAAGCAGCGCATTGACTTC	0.507													A	41188187	G	A	41188187	3	1	270	1	0	0	0	0	1	0	0	0	17191	1087	38	1	149	1	VPS18	15	41188187	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	322235	41188187	61343205	985	134485											
SPTBN5	51332	broad.mit.edu	37	chr15	42151169	42151169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggcttgcctgaagagCgcctccttcctgccaggagg	13	15	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:42151169C>T	uc001zos.2	-	48	8226	c.7893G>A	c.(7891-7893)GCG>GCA	p.A2631A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2666	Spectrin 23.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		GCCTGAAGAGCGCCTCCTTCC	0.677													T	42151169	C	T	42151169	2	4	270	1	0	0	0	0	0	0	0	1	15121	755	27	1		1	SPTBN5	15	42151169	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	962982	42151169	60380223	986	134486											
PLA2G4D	283748	broad.mit.edu	37	chr15	42371835	42371835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcccggcggtagctcGccaggcgctctggggaaaag	15	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:42371835G>A	uc001zox.2	-	13	1312	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	406	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		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)		GCGGTAGCTCGCCAGGCGCTC	0.667													A	42371835	G	A	42371835	3	1	270	1	0	0	0	0	1	0	0	0	12004	1087	38	1	1271	1	PLA2G4D	15	42371835	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	220666	42371835	60159557	987	134487											
GANC	2595	broad.mit.edu	37	chr15	42602614	42602614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctataggtattttctggctgAatgcctcggaaacactggtg	11	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:42602614A>G	uc001zpi.2	+	9	1170	c.856A>G	c.(856-858)AAT>GAT	p.N286D	GANC_uc001zph.2_Missense_Mutation_p.N286D|GANC_uc001zpj.1_Missense_Mutation_p.N25D	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	286					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		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)		TTTCTGGCTGAATGCCTCGGA	0.408													G	42602614	A	G	42602614	3	3	270	1	0	0	0	0	1	0	0	0	6234	246	9	3	890	3	GANC	15	42602614	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	230779	42602614	59928778	988	134488											
TTBK2	146057	broad.mit.edu	37	chr15	43044745	43044746	+	Frame_Shift_Ins	INS	-	-	A													tctcttgccctcttggtgcaINSaaaaagtagagaggtctcct							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43044744_43044745C>CA	uc001zqo.2	-	13	3138_3139	c.2699_2700G>TG	c.(2698-2700)ttgfs	p.L900fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.L831fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	900					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)		CCTCTTGGTGCAAAAAAGTAGA	0.426													A	43044746	-	A	43044745	7	5	270	1	0	1	1	0	0	0	0	0	16674	131	5	0	1043	0	TTBK2	15	43044745	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	442131	43044745	59486647	989	134489											
ADAL	161823	broad.mit.edu	37	chr15	43627977	43627977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccagatcttaaaatccaCgatcagatgactgtgattga	8	8	2	5	rs146713520		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43627977C>T	uc010udo.1	+	5	721	c.147C>T	c.(145-147)CAC>CAT	p.H49H	ADAL_uc001zrh.2_Silent_p.H49H	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	adenosine deaminase-like isoform 1	49					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding				0		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TTAAAATCCACGATCAGATGA	0.393													T	43627977	C	T	43627977	2	4	270	1	0	0	0	0	0	0	0	1	233	535	19	1		1	ADAL	15	43627977	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	583232	43627977	58903415	990	134490											
ZSCAN29	146050	broad.mit.edu	37	chr15	43654005	43654005	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctgatctacagtcacTctcattgcctttaccctgat	4	14	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43654005T>G	uc001zrk.1	-	5	1972	c.1825A>C	c.(1825-1827)AGT>CGT	p.S609R	ZSCAN29_uc001zrj.1_Missense_Mutation_p.S489R|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R537S|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.S219R	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	609					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		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)		CTACAGTCACTCTCATTGCCT	0.443													G	43654005	T	G	43654005	3	3	270	1	0	0	0	0	1	0	0	0	18233	1551	54	5	737	5	ZSCAN29	15	43654005	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	26028	43654005	58877387	991	134491											
TP53BP1	7158	broad.mit.edu	37	chr15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-													cagcaacagcagtagatccaTtttttctttcaccagttgca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43733756_43733756AT>A	uc001zrs.3	-	14	3199	c.3051_3051AT>T	c.(3049-3051)aatfs	p.N1017fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.N1017fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.N1022fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1017					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		CAGTAGATCCATTTTTTCTTT	0.393								Other conserved DNA damage response genes					-	43733757	T	-	43733757	7	5	270	1	0	1	0	1	0	0	0	0	16380	1493	52	0	2924	0	TP53BP1	15	43733757	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	79752	43733757	58797635	992	134492											
WDR76	79968	broad.mit.edu	37	chr15	44143344	44143344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatagtcagccagttagCtgtctttacttctcacccgc	6	16	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:44143344C>T	uc001zti.1	+	9	1115	c.1092C>T	c.(1090-1092)AGC>AGT	p.S364S		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	364	WD 2.										0		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)		AGCCAGTTAGCTGTCTTTACT	0.473													T	44143344	C	T	44143344	2	4	270	1	0	0	0	0	0	0	0	1	17323	796	28	2		2	WDR76	15	44143344	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	409587	44143344	58388048	993	134493											
C15orf43	145645	broad.mit.edu	37	chr15	45250696	45250696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttcattcttcctcctgCgtgcctgcaaaaaggttagc	7	12	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:45250696C>T	uc001zuk.2	+	3	289	c.272C>T	c.(271-273)GCG>GTG	p.A91V		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	91											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		CTTCCTCCTGCGTGCCTGCAA	0.413													T	45250696	C	T	45250696	3	4	270	1	0	0	0	0	1	0	0	0	1797	768	27	1	282	1	C15orf43	15	45250696	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1107352	45250696	57280696	994	134494											
DUOX1	53905	broad.mit.edu	37	chr15	45444607	45444607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttgctcaccatgtgccGcaacctcatcaccttcctgc	5	18	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:45444607G>A	uc001zus.1	+	26	3663	c.3317G>A	c.(3316-3318)CGC>CAC	p.R1106H	DUOX1_uc001zut.1_Missense_Mutation_p.R1106H|DUOX1_uc010bee.1_Missense_Mutation_p.R486H|DUOX1_uc001zuu.2_Missense_Mutation_p.R248H	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1106	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				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			ovary(5)|skin(2)|breast(1)	8		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)		ACCATGTGCCGCAACCTCATC	0.597													A	45444607	G	A	45444607	3	1	270	1	0	0	0	0	1	0	0	0	4800	1087	38	1	3411	1	DUOX1	15	45444607	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	193911	45444607	57086785	995	134495											
SLC12A1	6557	broad.mit.edu	37	chr15	48543854	48543854	+	Frame_Shift_Del	DEL	T	T	-													ttacaacatgtgggtatctcTttttggagctgttttgtgct							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:48543853_48543853CT>C	uc001zwn.4	+	14	2044	c.1828_1828CT>C	c.(1828-1830)cttfs	p.L610fs	SLC12A1_uc010uew.1_Frame_Shift_Del_p.L416fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.L610fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.L381fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.L337fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	610					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)	GTGGGTATCTCTTTTTGGAGC	0.413													-	48543854	T	-	48543854	7	5	270	1	0	1	0	1	0	0	0	0	14382	1609	56	0	1983	0	SLC12A1	15	48543854	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	3099247	48543854	53987538	996	134496											
SECISBP2L	9728	broad.mit.edu	37	chr15	49327620	49327620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttggacgctcagtgcAttctgtggtgatagcattta	11	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:49327620A>G	uc001zxe.1	-	3	573	c.439T>C	c.(439-441)TGC>CGC	p.C147R	SECISBP2L_uc001zxd.1_Missense_Mutation_p.C147R|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.C147R	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	147										breast(1)|skin(1)	2						CGCTCAGTGCATTCTGTGGTG	0.473													G	49327620	A	G	49327620	3	3	270	1	0	0	0	0	1	0	0	0	14007	217	8	3	2791	3	SECISBP2L	15	49327620	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	783766	49327620	53203772	997	134497											
ATP8B4	79895	broad.mit.edu	37	chr15	50168644	50168644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgcaaatgaaaaatttaCgcttgttaaaaagcagattc	6	7	0	2	rs139968118	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:50168644C>T	uc001zxu.2	-	25	3000	c.2858G>A	c.(2857-2859)CGT>CAT	p.R953H	ATP8B4_uc010ber.2_Missense_Mutation_p.R826H|ATP8B4_uc010ufd.1_Missense_Mutation_p.R763H|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	953	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAAAAATTTACGCTTGTTAAA	0.448													T	50168644	C	T	50168644	3	4	270	1	0	0	0	0	1	0	0	0	1197	536	19	1	736	1	ATP8B4	15	50168644	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	841024	50168644	52362748	998	134498											
AP4E1	23431	broad.mit.edu	37	chr15	51217295	51217295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgcttaatgttgtgccagGatctgcagagcactaaccta	9	9	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:51217295G>A	uc001zyx.1	+	5	451	c.421G>A	c.(421-423)GAT>AAT	p.D141N	AP4E1_uc010ufi.1_Missense_Mutation_p.D141N|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	141					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTTGTGCCAGGATCTGCAGAG	0.378													A	51217295	G	A	51217295	3	1	270	1	0	0	0	0	1	0	0	0	752	1188	41	4	439	4	AP4E1	15	51217295	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1048651	51217295	51314097	999	134499											
UNC13C	440279	broad.mit.edu	37	chr15	54306982	54306982	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacagaaactgtggatagtGgaatgagtaatggcatggtg	14	4	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:54306982G>T	uc002ack.2	+	1	1882	c.1882G>T	c.(1882-1884)GGA>TGA	p.G628*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	628					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTGGATAGTGGAATGAGTAA	0.468													T	54306982	G	T	54306982	4	4	270	1	0	0	0	0	0	1	0	0	16983	1349	47	5	1884	5	UNC13C	15	54306982	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3089687	54306982	48224410	1000	134500											
DYX1C1	161582	broad.mit.edu	37	chr15	55790442	55790442	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcagaacacgtccgtgtctCtgacgcacacgcctttgagg	11	13	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:55790442C>T	uc002adc.2	-	2	454	c.86G>A	c.(85-87)AGA>AAA	p.R29K	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Missense_Mutation_p.R29K|DYX1C1_uc002add.2_Missense_Mutation_p.R29K	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	29	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			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GTCCGTGTCTCTGACGCACAC	0.567													T	55790442	C	T	55790442	3	4	270	1	0	0	0	0	1	0	0	0	4862	913	32	4	1315	4	DYX1C1	15	55790442	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1483460	55790442	46740950	1001	134501											
PYGO1	26108	broad.mit.edu	37	chr15	55841142	55841142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctttttcttatctgggCttcctagttgtacacctggt	9	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:55841142C>T	uc010bfl.1	-	2	157	c.101G>A	c.(100-102)AGC>AAC	p.S34N	PYGO1_uc002adf.1_Missense_Mutation_p.S34N	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	34					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CTTATCTGGGCTTCCTAGTTG	0.368													T	55841142	C	T	55841142	3	4	270	1	0	0	0	0	1	0	0	0	12863	797	28	2	1166	2	PYGO1	15	55841142	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	50700	55841142	46690250	1002	134502											
FOXB1	27023	broad.mit.edu	37	chr15	60297960	60297960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgcccattaagcccacGccggccgccgtgcccgcgct	11	21	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:60297960G>A	uc002agj.1	+	2	1277	c.798G>A	c.(796-798)ACG>ACA	p.T266T	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	266					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			ovary(1)|central_nervous_system(1)	2						TTAAGCCCACGCCGGCCGCCG	0.721													A	60297960	G	A	60297960	2	1	270	1	0	0	0	0	0	0	0	1	5992	1074	38	1		1	FOXB1	15	60297960	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4456818	60297960	42233432	1003	134503											
TLN2	83660	broad.mit.edu	37	chr15	63089583	63089583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagccagcctgggctcCgacgaccccgagacccaggt	15	16	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:63089583C>T	uc002alb.3	+	45	6216	c.6216C>T	c.(6214-6216)TCC>TCT	p.S2072S	TLN2_uc002alc.3_Silent_p.S465S	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	2072					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCCTGGGCTCCGACGACCCCG	0.677													T	63089583	C	T	63089583	2	4	270	1	0	0	0	0	0	0	0	1	15945	639	23	1		1	TLN2	15	63089583	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2791623	63089583	39441809	1004	134504											
MEGF11	84465	broad.mit.edu	37	chr15	66191080	66191080	+	Frame_Shift_Del	DEL	T	T	-													acctaccaacttcatatataTttttattagatgtcgacaag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:66191079_66191079AT>A	uc002apm.2	-	21	3102	c.2961_2961AT>T	c.(2959-2961)aatfs	p.N987fs	MEGF11_uc002apl.2_Frame_Shift_Del_p.N912fs|MEGF11_uc002apn.1_Frame_Shift_Del_p.N987fs	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	987						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						CTTCATATATATTTTTATTAG	0.443													-	66191080	T	-	66191080	7	5	270	1	0	1	0	1	0	0	0	0	9461	1493	52	0	182	0	MEGF11	15	66191080	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	3101497	66191080	36340312	1005	134505											
ZWILCH	55055	broad.mit.edu	37	chr15	66819666	66819666	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactggtgtcactgaatgGctcgagcccctggaagcaaa	13	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:66819666G>A	uc002aqb.2	+	9	1104	c.858G>A	c.(856-858)TGG>TGA	p.W286*	RPL4_uc002apx.2_5'Flank|ZWILCH_uc010bhu.1_Nonsense_Mutation_p.W172*|ZWILCH_uc002aqa.2_Nonsense_Mutation_p.W172*|ZWILCH_uc010bhv.2_Nonsense_Mutation_p.W172*	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Zwilch	286					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			ovary(1)	1						TCACTGAATGGCTCGAGCCCC	0.368													A	66819666	G	A	66819666	4	1	270	1	0	0	0	0	0	1	0	0	18245	1212	42	2	892	2	ZWILCH	15	66819666	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	628586	66819666	35711726	1006	134506											
LCTL	197021	broad.mit.edu	37	chr15	66857094	66857094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccactgtgtgtgaagaCgtcccagatgctaggccctt	10	13	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:66857094C>T	uc002aqc.2	-	2	334	c.202G>A	c.(202-204)GTC>ATC	p.V68I	LCTL_uc002aqd.3_Intron|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	68	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TGTGTGAAGACGTCCCAGATG	0.627													T	66857094	C	T	66857094	3	4	270	1	0	0	0	0	1	0	0	0	8694	536	19	1	1549	1	LCTL	15	66857094	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	37428	66857094	35674298	1007	134507											
IQCH	64799	broad.mit.edu	37	chr15	67757528	67757528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgactcaactcaccttaTacctgacaaacggccatctg	5	16	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:67757528T>C	uc002aqo.1	+	17	2616	c.2569T>C	c.(2569-2571)TAC>CAC	p.Y857H	IQCH_uc002aqq.1_Missense_Mutation_p.Y514H|IQCH_uc002aqp.1_Missense_Mutation_p.Y518H|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	857										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		ACTCACCTTATACCTGACAAA	0.507													C	67757528	T	C	67757528	3	2	270	1	0	0	0	0	1	0	0	0	7811	1406	49	3	2763	3	IQCH	15	67757528	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	900434	67757528	34773864	1008	134508											
PIAS1	8554	broad.mit.edu	37	chr15	68445963	68445963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatatcttgtaaaacagttGtcctcaacagttcttcttca	5	9	5	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:68445963G>A	uc002aqz.2	+	7	960	c.864G>A	c.(862-864)TTG>TTA	p.L288L	PIAS1_uc010ujx.1_Silent_p.L288L	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	288	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						TAAAACAGTTGTCCTCAACAG	0.318													A	68445963	G	A	68445963	2	1	270	1	0	0	0	0	0	0	0	1	11875	1368	48	4		4	PIAS1	15	68445963	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	688435	68445963	34085429	1009	134509											
THSD4	79875	broad.mit.edu	37	chr15	71535237	71535237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctggactgcaggctgcGgaggcccccatctaccagct	12	16	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:71535237G>A	uc002atb.1	+	4	793	c.714G>A	c.(712-714)GCG>GCA	p.A238A	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	238	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TGCAGGCTGCGGAGGCCCCCA	0.572													A	71535237	G	A	71535237	2	1	270	1	0	0	0	0	0	0	0	1	15875	1103	39	1		1	THSD4	15	71535237	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3089274	71535237	30996155	1010	134510											
HCN4	10021	broad.mit.edu	37	chr15	73617395	73617395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcttcttgccaatggTgccttcccggatgatgtagt	10	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:73617395T>C	uc002avp.2	-	6	2873	c.1879A>G	c.(1879-1881)ACC>GCC	p.T627A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	627	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TTGCCAATGGTGCCTTCCCGG	0.577													C	73617395	T	C	73617395	3	2	270	1	0	0	0	0	1	0	0	0	6999	1696	59	3	1744	3	HCN4	15	73617395	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2082158	73617395	28913997	1011	134511											
C15orf59	388135	broad.mit.edu	37	chr15	74032267	74032267	+	Frame_Shift_Del	DEL	C	C	-													ctccccggcccctagtttttCcccctggctttctgtctagt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:74032266_74032266TC>T	uc002avy.3	-	1	1219	c.874_874GA>A	c.(874-876)aaafs	p.K292fs		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	292										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCTAGTTTTTCCCCCTGGCT	0.478													-	74032267	C	-	74032267	7	5	270	1	0	1	0	1	0	0	0	0	1807	842	30	0	12	0	C15orf59	15	74032267	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	414872	74032267	28499125	1012	134512											
CLK3	1198	broad.mit.edu	37	chr15	74912475	74912475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgttctcgtcatcgtcGgcgatcgcgggagagggggc	16	11	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:74912475G>A	uc010uln.1	+	3	1183	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	CLK3_uc002ayg.3_Missense_Mutation_p.R93Q|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R241Q|CLK3_uc002ayj.3_Missense_Mutation_p.R93Q|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	241	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						CGTCATCGTCGGCGATCGCGG	0.622													A	74912475	G	A	74912475	3	1	270	1	0	0	0	0	1	0	0	0	3538	1116	39	1	732	1	CLK3	15	74912475	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	880208	74912475	27618917	1013	134513											
CLK3	1198	broad.mit.edu	37	chr15	74919886	74919888	+	In_Frame_Del	DEL	GAG	GAG	-													gccttgcctttcagagctgtGaggagaagtcagtgaagaac							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:74919885_74919887TGAG>T	uc010uln.2	+	8	1823_1825	c.1362_1364TGAG>T	c.(1360-1365)tgtgag>tgTg	p.E456del	CLK3_uc002ayg.4_In_Frame_Del_p.E308del|CLK3_uc002ayh.4_In_Frame_Del_p.E87del|CLK3_uc002ayj.4_In_Frame_Del_p.E285del|CLK3_uc002ayk.4_In_Frame_Del_p.E235del|CLK3_uc002ayl.4_In_Frame_Del_p.E141del	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	456	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TTCAGAGCTGTGAGGAGAAGTCA	0.571													-	74919888	GAG	-	74919886	7	5	270	1	0	1	0	1	0	0	0	0	3538	1291	45	0	1397	0	CLK3	15	74919886	In_Frame_Del	DEL	GAG	TCGA-HU-A4GN-01A-11D-A25D-08	7411	74919886	27611506	1014	134514											
CSK	1445	broad.mit.edu	37	chr15	75091041	75091041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccttctgcaaaggagAcgtgctcaccattgtggccg	11	14	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:75091041A>G	uc010bkb.1	+	4	284	c.101A>G	c.(100-102)GAC>GGC	p.D34G	CSK_uc010bka.2_Silent_p.R104R|CSK_uc002ays.2_Missense_Mutation_p.D34G|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	34	Interaction with PTPN8 (By similarity).|SH3.				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			lung(2)|central_nervous_system(1)	3						TGCAAAGGAGACGTGCTCACC	0.617													G	75091041	A	G	75091041	3	3	270	1	0	0	0	0	1	0	0	0	3943	275	10	3	107	3	CSK	15	75091041	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	171155	75091041	27440351	1015	134515											
MAN2C1	4123	broad.mit.edu	37	chr15	75648732	75648732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctgggggctggcagagcCaacagggggaagtttaggct	20	7	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:75648732C>A	uc002baf.2	-	24	2813	c.2796G>T	c.(2794-2796)TTG>TTT	p.L932F	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Intron|MAN2C1_uc002bah.2_Missense_Mutation_p.L949F|MAN2C1_uc010bkk.2_Missense_Mutation_p.L833F	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	932					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						CTGGCAGAGCCAACAGGGGGA	0.617													A	75648732	C	A	75648732	3	1	270	1	0	0	0	0	1	0	0	0	9218	593	21	5	338	5	MAN2C1	15	75648732	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	557691	75648732	26882660	1016	134516											
SIN3A	25942	broad.mit.edu	37	chr15	75676749	75676749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtcagtcacctgcacAcagatctcatcactcacgat	6	13	5	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:75676749A>G	uc002bai.2	-	17	3310	c.3051T>C	c.(3049-3051)TGT>TGC	p.C1017C	SIN3A_uc002baj.2_Silent_p.C1017C|SIN3A_uc010uml.1_Silent_p.C1017C	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1017					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TCACCTGCACACAGATCTCAT	0.468													G	75676749	A	G	75676749	2	3	270	1	0	0	0	0	0	0	0	1	14325	157	6	3		3	SIN3A	15	75676749	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	28017	75676749	26854643	1017	134517											
ALPK3	57538	broad.mit.edu	37	chr15	85406054	85406054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacccatcttcgagtcgggcCgcacgtgcatcatcaaggtg	11	13	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:85406054C>A	uc002ble.2	+	10	5091	c.4924C>A	c.(4924-4926)CGC>AGC	p.R1642S	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1642	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGAGTCGGGCCGCACGTGCAT	0.592													A	85406054	C	A	85406054	3	1	270	1	0	0	0	0	1	0	0	0	546	652	23	5	4962	5	ALPK3	15	85406054	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	9729305	85406054	17125338	1018	134518											
KLHL25	64410	broad.mit.edu	37	chr15	86312936	86312936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgcgaagcgtgttgaGgtgggccagcacacagtccg	16	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:86312936G>T	uc002bly.2	-	2	309	c.106C>A	c.(106-108)CTC>ATC	p.L36I		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	36						cytoplasm				ovary(2)	2						AGCGTGTTGAGGTGGGCCAGC	0.657													T	86312936	G	T	86312936	3	4	270	1	0	0	0	0	1	0	0	0	8380	1000	35	5	1667	5	KLHL25	15	86312936	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	906882	86312936	16218456	1019	134519											
MAN2A2	4122	broad.mit.edu	37	chr15	91450046	91450046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttacctgctgcgccgtgcCaacctcaccagcatgctgat	8	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:91450046C>T	uc010bnz.2	+	7	1027	c.912C>T	c.(910-912)GCC>GCT	p.A304A	MAN2A2_uc010boa.2_Silent_p.A346A|MAN2A2_uc002bqc.2_Silent_p.A304A|MAN2A2_uc010uql.1_Silent_p.A8A|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	304	Lumenal (Potential).				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			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCGCCGTGCCAACCTCACCA	0.592													T	91450046	C	T	91450046	2	4	270	1	0	0	0	0	0	0	0	1	9215	581	21	4		4	MAN2A2	15	91450046	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5137110	91450046	11081346	1020	134520											
ADAMTS17	170691	broad.mit.edu	37	chr15	100802556	100802556	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcctgtggggacttaCgggacgttgtcgtagcagga	17	7	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:100802556C>T	uc002bvv.1	-	5	952	c.873_splice	c.e5+1	p.P291_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.P48_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGGGACTTACGGGACGTTGT	0.488													T	100802556	C	T	100802556	5	4	270	1	0	0	0	0	0	0	1	0	262	550	19	1	2485	1	ADAMTS17	15	100802556	Splice_Site	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	9352510	100802556	1728836	1021	134521											
LRRK1	79705	broad.mit.edu	37	chr15	101605617	101605617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtgtttcccgtggtgCggggcaccccaaaggacagc	15	12	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:101605617C>T	uc002bwr.2	+	32	5294	c.4975C>T	c.(4975-4977)CGG>TGG	p.R1659W	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1659					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			TCCCGTGGTGCGGGGCACCCC	0.582													T	101605617	C	T	101605617	3	4	270	1	0	0	0	0	1	0	0	0	9032	759	27	1	5097	1	LRRK1	15	101605617	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	803061	101605617	925775	1022	134522											
RHBDF1	64285	broad.mit.edu	37	chr16	108438	108438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagcggacaggatagacGtagaagaggaccaccaggcc	13	11	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:108438G>A	uc002cfl.3	-	21	2617	c.2469C>T	c.(2467-2469)TAC>TAT	p.Y823Y		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	823	Helical; (Potential).				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			ovary(1)|pancreas(1)	2		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)				CAGGATAGACGTAGAAGAGGA	0.552													A	108438	G	A	108438	2	1	270	1	0	0	0	0	0	0	0	1	13319	1140	40	1		1	RHBDF1	16	108438	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08		108438	90246315	1023	134523											
TMEM8A	58986	broad.mit.edu	37	chr16	425384	425384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtattgaagccaaggaaggGcgaggcagcattcacgcagg	15	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:425384G>A	uc002cgu.3	-	7	1405	c.1276C>T	c.(1276-1278)CCC>TCC	p.P426S	TMEM8A_uc002cgv.3_Missense_Mutation_p.P233S	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	426	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CCAAGGAAGGGCGAGGCAGCA	0.672													A	425384	G	A	425384	3	1	270	1	0	0	0	0	1	0	0	0	16211	1203	42	2	1067	2	TMEM8A	16	425384	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	316946	425384	89929369	1024	134524											
MSLN	10232	broad.mit.edu	37	chr16	816414	816414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagccctgaggacattcGcaagtggaatgtgacgtccc	13	10	0	3	rs150147307		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:816414G>A	uc002cjw.1	+	12	1205	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	MSLN_uc002cjt.1_Missense_Mutation_p.R385H|MSLN_uc002cju.1_Missense_Mutation_p.R385H|MSLN_uc010brd.1_Missense_Mutation_p.R384H|MSLN_uc002cjv.1_Missense_Mutation_p.R385H|MSLN_uc002cjx.1_Missense_Mutation_p.R385H|MSLN_uc002cjy.1_Missense_Mutation_p.R50H	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	385					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				GAGGACATTCGCAAGTGGAAT	0.567													A	816414	G	A	816414	3	1	270	1	0	0	0	0	1	0	0	0	9881	1087	38	1	1196	1	MSLN	16	816414	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	391030	816414	89538339	1025	134525											
CACNA1H	8912	broad.mit.edu	37	chr16	1270496	1270496	+	Frame_Shift_Del	DEL	C	C	-													cgcagaaagaagaagatgagCcccccctgcatctcggtgga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:1270495_1270495GC>G	uc002cks.3	+	34	6811	c.6563_6563GC>G	c.(6562-6564)agcfs	p.S2188fs	CACNA1H_uc002ckt.3_Frame_Shift_Del_p.S2182fs|CACNA1H_uc002cku.3_Frame_Shift_Del_p.S883fs|CACNA1H_uc010brj.3_Frame_Shift_Del_p.S899fs|CACNA1H_uc002ckv.3_Frame_Shift_Del_p.S877fs	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2188					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)	AAGAAGATGAGCCCCCCCTGC	0.746													-	1270496	C	-	1270496	7	5	270	1	0	1	0	1	0	0	0	0	2545	738	26	0	6698	0	CACNA1H	16	1270496	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	454082	1270496	89084257	1026	134526											
TPSD1	23430	broad.mit.edu	37	chr16	1306823	1306823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatctggccgccctcAgggtgcaactgcgggagcag	15	12	3	0	rs143852280		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:1306823A>G	uc002clb.1	+	3	289	c.280A>G	c.(280-282)AGG>GGG	p.R94G	TPSD1_uc010brm.1_Splice_Site_p.P23_splice	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GGCCGCCCTCAGGGTGCAACT	0.662													G	1306823	A	G	1306823	3	3	270	1	0	0	0	0	1	0	0	0	16422	179	7	3	290	3	TPSD1	16	1306823	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	36327	1306823	89047930	1027	134527											
CLCN7	1186	broad.mit.edu	37	chr16	1502845	1502845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaactgtggccgtgacggCggccaccagcacggcctcaa	14	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:1502845C>T	uc002clv.2	-	15	1374	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	CLCN7_uc002clw.2_Missense_Mutation_p.A398T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	422	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GCCGTGACGGCGGCCACCAGC	0.672													T	1502845	C	T	1502845	3	4	270	1	0	0	0	0	1	0	0	0	3468	768	27	1	1197	1	CLCN7	16	1502845	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	196022	1502845	88851908	1028	134528											
TSC2	7249	broad.mit.edu	37	chr16	2122296	2122296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctgcctgagtccctgCgctataaagtgctcatcttt	10	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2122296C>T	uc002con.2	+	20	2258	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	TSC2_uc010bsd.2_Missense_Mutation_p.R718C|TSC2_uc002coo.2_Missense_Mutation_p.R718C|TSC2_uc010uvv.1_Missense_Mutation_p.R681C|TSC2_uc010uvw.1_Missense_Mutation_p.R669C|TSC2_uc002cop.2_Missense_Mutation_p.R518C	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	718					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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TGAGTCCCTGCGCTATAAAGT	0.612			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	2122296	C	T	2122296	3	4	270	1	0	0	0	0	1	0	0	0	16603	768	27	1	2226	1	TSC2	16	2122296	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	619451	2122296	88232457	1029	134529											
TRAF7	84231	broad.mit.edu	37	chr16	2218083	2218083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgccttgcagctgacGggaccagcacctacaagcag	10	15	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2218083G>A	uc002cow.2	+	4	244	c.145G>A	c.(145-147)GGG>AGG	p.G49R		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	49					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						TGCAGCTGACGGGACCAGCAC	0.667													A	2218083	G	A	2218083	3	1	270	1	0	0	0	0	1	0	0	0	16443	1116	39	1	155	1	TRAF7	16	2218083	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	95787	2218083	88136670	1030	134530											
MLST8	64223	broad.mit.edu	37	chr16	2258236	2258236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctatgtctggaatctgaCggggggcattggtgacgagg	17	7	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2258236C>T	uc002coz.2	+	7	718	c.599C>T	c.(598-600)ACG>ATG	p.T200M	MLST8_uc002coy.2_Missense_Mutation_p.T200M|MLST8_uc002cpa.2_Missense_Mutation_p.T16M|MLST8_uc002cpb.2_Missense_Mutation_p.T199M|MLST8_uc010uvx.1_Missense_Mutation_p.T134M|MLST8_uc002cpc.2_Missense_Mutation_p.T200M|MLST8_uc002cpd.2_Missense_Mutation_p.T134M|MLST8_uc002cpe.2_Missense_Mutation_p.T200M|MLST8_uc002cpg.2_Missense_Mutation_p.T219M|MLST8_uc002cph.2_Intron|MLST8_uc002cpf.2_Missense_Mutation_p.T200M	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	200	WD 5.				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				0						TGGAATCTGACGGGGGGCATT	0.632													T	2258236	C	T	2258236	3	4	270	1	0	0	0	0	1	0	0	0	9634	536	19	1	621	1	MLST8	16	2258236	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	40153	2258236	88096517	1031	134531											
ABCA3	21	broad.mit.edu	37	chr16	2333309	2333309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggaggccacaaaccGgccgacccccggggcgctcc	14	18	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2333309G>A	uc002cpy.1	-	26	4625	c.3913C>T	c.(3913-3915)CGG>TGG	p.R1305W	ABCA3_uc010bsk.1_Missense_Mutation_p.R1247W	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1305					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCCACAAACCGGCCGACCCCC	0.657													A	2333309	G	A	2333309	3	1	270	1	0	0	0	0	1	0	0	0	33	1115	39	1	1233	1	ABCA3	16	2333309	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	75073	2333309	88021444	1032	134532											
NTN3	4917	broad.mit.edu	37	chr16	2522140	2522140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggccgcagctgggccccGctgggcttcttctcctccca	11	18	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2522140G>A	uc002cqj.2	+	1	641	c.438G>A	c.(436-438)CCG>CCA	p.P146P		NM_006181	NP_006172	O00634	NET3_HUMAN	netrin 3 precursor	146	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				central_nervous_system(1)	1						GCTGGGCCCCGCTGGGCTTCT	0.672													A	2522140	G	A	2522140	2	1	270	1	0	0	0	0	0	0	0	1	10701	1074	38	1		1	NTN3	16	2522140	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	188831	2522140	87832613	1033	134533											
FLYWCH1	84256	broad.mit.edu	37	chr16	2987367	2987367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcacttccccaacctgGcgcagtgggacagcccaggt	14	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2987367G>A	uc002csd.2	+	7	2122	c.1759G>A	c.(1759-1761)GCG>ACG	p.A587T	FLYWCH1_uc002csb.2_Missense_Mutation_p.A586T|FLYWCH1_uc002csc.2_Missense_Mutation_p.A586T|FLYWCH1_uc010bsv.2_Missense_Mutation_p.A311T|FLYWCH1_uc002cse.2_Missense_Mutation_p.A42T	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	587						nucleus	DNA binding|metal ion binding				0						CCCCAACCTGGCGCAGTGGGA	0.731													A	2987367	G	A	2987367	3	1	270	1	0	0	0	0	1	0	0	0	5947	1203	42	2	1774	2	FLYWCH1	16	2987367	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	465227	2987367	87367386	1034	134534											
HCFC1R1	54985	broad.mit.edu	37	chr16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-													agggctggggagaaggtcatGggggggctgcagtaggggtg					rs147841549	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3073265_3073265TG>T	uc002csx.1	-	3	383	c.250_250CA>A	c.(250-252)atgfs	p.M84fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.M84fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.M65fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	84						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTG	0.617													-	3073266	G	-	3073266	7	5	270	1	0	1	0	1	0	0	0	0	6992	1335	47	0	175	0	HCFC1R1	16	3073266	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	85899	3073266	87281487	1035	134535											
MEFV	4210	broad.mit.edu	37	chr16	3304219	3304219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcagatgcccctccatcCggagtgggccttgcccgggg	14	16	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3304219C>T	uc002cun.1	-	2	889	c.849G>A	c.(847-849)CCG>CCA	p.P283P		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	283					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	CCCCTCCATCCGGAGTGGGCC	0.448													T	3304219	C	T	3304219	2	4	270	1	0	0	0	0	0	0	0	1	9459	639	23	1		1	MEFV	16	3304219	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	230953	3304219	87050534	1036	134536											
ZNF174	7727	broad.mit.edu	37	chr16	3458468	3458468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaatatgagtgaacctcGgttgtcacggaggcaggtca	14	8	2	2	rs144498218	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3458468G>A	uc002cvc.2	+	3	1588	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	258					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				0						AGTGAACCTCGGTTGTCACGG	0.522													A	3458468	G	A	3458468	3	1	270	1	0	0	0	0	1	0	0	0	17741	1116	39	1	867	1	ZNF174	16	3458468	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	154249	3458468	86896285	1037	134537											
CREBBP	1387	broad.mit.edu	37	chr16	3781384	3781384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgtcgcgcccatccaTgaggtcacagctgagcaggg	15	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3781384T>C	uc002cvv.2	-	30	5185	c.4981A>G	c.(4981-4983)ATG>GTG	p.M1661V	CREBBP_uc002cvw.2_Missense_Mutation_p.M1623V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1661	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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCCCATCCATGAGGTCACAG	0.637			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				C	3781384	T	C	3781384	3	2	270	1	0	0	0	0	1	0	0	0	3861	1464	51	3	2355	3	CREBBP	16	3781384	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	322916	3781384	86573369	1038	134538											
CORO7	79585	broad.mit.edu	37	chr16	4390324	4390324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggagccgagcagtcacGtatggggcatctgccctttt	16	10	2	0	rs148571756		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:4390324G>A	uc002cwf.2	-	31	3586	c.3143C>T	c.(3142-3144)ACG>ATG	p.T1048M	CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Missense_Mutation_p.T125M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	Error:Variant_position_missing_in_P57737_after_alignment						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GAGCAGTCACGTATGGGGCAT	0.532													A	4390324	G	A	4390324	3	1	270	1	0	0	0	0	1	0	0	0	3759	1145	40	1		1	CORO7	16	4390324	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	608940	4390324	85964429	1039	134539											
UBN1	29855	broad.mit.edu	37	chr16	4911085	4911085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacccctggagaagcgCgttaaggagctggctcaggt	14	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:4911085C>T	uc002cyb.2	+	7	1431	c.1092C>T	c.(1090-1092)CGC>CGT	p.R364R	UBN1_uc010uxw.1_Silent_p.R364R|UBN1_uc002cyc.2_Silent_p.R364R	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	364					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			skin(2)	2						TGGAGAAGCGCGTTAAGGAGC	0.577													T	4911085	C	T	4911085	2	4	270	1	0	0	0	0	0	0	0	1	16889	755	27	1		1	UBN1	16	4911085	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	520761	4911085	85443668	1040	134540											
GRIN2A	2903	broad.mit.edu	37	chr16	9858518	9858518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaaatgtttggagttcGttcatgttgtctccaaaaat	8	8	2	0	rs77705198	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:9858518G>A	uc002czo.3	-	13	3431	c.2883C>T	c.(2881-2883)AAC>AAT	p.N961N	GRIN2A_uc010uym.1_Silent_p.N961N|GRIN2A_uc010uyn.1_Silent_p.N804N|GRIN2A_uc002czr.3_Silent_p.N961N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	961	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTTGGAGTTCGTTCATGTTGT	0.438													A	9858518	G	A	9858518	2	1	270	1	0	0	0	0	0	0	0	1	6779	1136	40	1		1	GRIN2A	16	9858518	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4947433	9858518	80496235	1041	134541											
GSPT1	2935	broad.mit.edu	37	chr16	11969760	11969760	+	Frame_Shift_Del	DEL	T	T	-													gtcttacttttttctcctgaTtttttgtctaccaagcagat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:11969759_11969759AT>A	uc010bux.3	-	13	1989	c.1306_1306AT>T	c.(1306-1308)tcafs	p.S436fs	GSPT1_uc002dbu.3_Frame_Shift_Del_p.S573fs|GSPT1_uc002dbt.3_Frame_Shift_Del_p.S574fs	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	436					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						TTTTCTCCTGATTTTTTGTCT	0.373													-	11969760	T	-	11969760	7	5	270	1	0	1	0	1	0	0	0	0	6826	1490	52	0	202	0	GSPT1	16	11969760	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	2111242	11969760	78384993	1042	134542											
MKL2	57496	broad.mit.edu	37	chr16	14341272	14341272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccccaggctttactgAccacgcagactgctcagctg	9	16	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:14341272A>G	uc010uza.1	+	12	2310	c.2155A>G	c.(2155-2157)ACC>GCC	p.T719A	MKL2_uc002dcg.2_Intron|MKL2_uc002dcj.2_5'UTR	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	708	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			ovary(3)|kidney(1)|pancreas(1)	5						GGCTTTACTGACCACGCAGAC	0.592													G	14341272	A	G	14341272	3	3	270	1	0	0	0	0	1	0	0	0	9602	290	10	3		3	MKL2	16	14341272	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2371512	14341272	76013481	1043	134543											
GPRC5B	51704	broad.mit.edu	37	chr16	19883215	19883215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtcctcctcgaaggccGtctcccgcatcctgggctgc	11	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:19883215G>A	uc002dgt.2	-	2	1061	c.953C>T	c.(952-954)ACG>ATG	p.T318M	GPRC5B_uc010vav.1_Missense_Mutation_p.T344M	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	318	Cytoplasmic (Potential).									lung(1)|breast(1)|skin(1)	3						CTCGAAGGCCGTCTCCCGCAT	0.607													A	19883215	G	A	19883215	3	1	270	1	0	0	0	0	1	0	0	0	6725	1145	40	1	270	1	GPRC5B	16	19883215	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5541943	19883215	70471538	1044	134544											
GPRC5B	51704	broad.mit.edu	37	chr16	19883779	19883779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcgcaaagaggacgCcccagaggaagcggcggaca	16	11	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:19883779C>T	uc002dgt.2	-	2	497	c.389G>A	c.(388-390)GGC>GAC	p.G130D	GPRC5B_uc010vav.1_Missense_Mutation_p.G156D	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	130	Helical; Name=3; (Potential).									lung(1)|breast(1)|skin(1)	3						AAAGAGGACGCCCCAGAGGAA	0.662													T	19883779	C	T	19883779	3	4	270	1	0	0	0	0	1	0	0	0	6725	739	26	2	834	2	GPRC5B	16	19883779	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	564	19883779	70470974	1045	134545											
ANKS4B	257629	broad.mit.edu	37	chr16	21261128	21261128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatggccatgcccactgcGtctcattcctggtcaacttt	7	15	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:21261128G>A	uc010bwp.1	+	2	284	c.241G>A	c.(241-243)GTC>ATC	p.V81I	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	81	ANK 2.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		TGCCCACTGCGTCTCATTCCT	0.498													A	21261128	G	A	21261128	3	1	270	1	0	0	0	0	1	0	0	0	691	1145	40	1	247	1	ANKS4B	16	21261128	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1377349	21261128	69093625	1046	134546											
COG7	91949	broad.mit.edu	37	chr16	23430031	23430031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgactttaccagaggcacaGcactcatctggatgaggagg	13	10	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:23430031G>A	uc002dlo.2	-	8	1315	c.1127C>T	c.(1126-1128)GCT>GTT	p.A376V		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	376					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				0				GBM - Glioblastoma multiforme(48;0.0401)		CAGAGGCACAGCACTCATCTG	0.557													A	23430031	G	A	23430031	3	1	270	1	0	0	0	0	1	0	0	0	3663	971	34	2	1225	2	COG7	16	23430031	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2168903	23430031	66924722	1047	134547											
TNRC6A	27327	broad.mit.edu	37	chr16	24834864	24834864	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcccggctggcagtctctCgggtccagccagagccggct	13	16	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:24834864C>T	uc002dmm.2	+	25	5739	c.5625C>T	c.(5623-5625)CTC>CTT	p.L1875L	TNRC6A_uc010bxs.2_Silent_p.L1622L|TNRC6A_uc002dmn.2_Silent_p.L1573L|TNRC6A_uc002dmo.2_Silent_p.L1514L|TNRC6A_uc002dmr.2_Silent_p.L74L	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1875	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			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GGCAGTCTCTCGGGTCCAGCC	0.567													T	24834864	C	T	24834864	2	4	270	1	0	0	0	0	0	0	0	1	16337	871	31	1		1	TNRC6A	16	24834864	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1404833	24834864	65519889	1048	134548											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25268437	25268437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcgatctgagagtcgagGgcgacagccatgctgcagcc	15	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:25268437G>A	uc002dod.3	-	1	419	c.12C>T	c.(10-12)GCC>GCT	p.A4A	ZKSCAN2_uc010vcl.1_5'UTR|ZKSCAN2_uc002doe.2_Silent_p.A4A	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	4					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GAGAGTCGAGGGCGACAGCCA	0.567											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	25268437	G	A	25268437	2	1	270	1	0	0	0	0	0	0	0	1	17684	1219	43	4		4	ZKSCAN2	16	25268437	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	433573	25268437	65086316	1049	134549											
IL21R	50615	broad.mit.edu	37	chr16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctatgagctgcaggtgCgggcagggcccatgcctggc	17	12	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:27455956C>T	uc002doq.1	+	6	834	c.601C>T	c.(601-603)CGG>TGG	p.R201W	IL21R_uc002dor.1_Missense_Mutation_p.R201W|IL21R_uc002dos.1_Missense_Mutation_p.R201W	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	201	Extracellular (Potential).|Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GCTGCAGGTGCGGGCAGGGCC	0.597			T	BCL6	NHL								T	27455956	C	T	27455956	3	4	270	1	0	0	0	0	1	0	0	0	7671	759	27	1	619	1	IL21R	16	27455956	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2187519	27455956	62898797	1050	134550											
APOB48R	55911	broad.mit.edu	37	chr16	28507089	28507089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggagcctggggccgaaGgggctgggaaaggagaagag	21	6	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:28507089G>T	uc002dqb.1	+	2	737	c.727G>T	c.(727-729)GGG>TGG	p.G243W	uc010vct.1_Intron|APOB48R_uc010byg.1_Intron	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	243	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						TGGGGCCGAAGGGGCTGGGAA	0.662													T	28507089	G	T	28507089	3	4	270	1	0	0	0	0	1	0	0	0	786	1000	35	5	733	5	APOB48R	16	28507089	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1051133	28507089	61847664	1051	134551											
ATXN2L	11273	broad.mit.edu	37	chr16	28844506	28844506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccatggggtctcccGtctcctccaagacagagtcc	10	16	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:28844506G>A	uc002drc.2	+	14	1954	c.1786G>A	c.(1786-1788)GTC>ATC	p.V596I	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.V572I|ATXN2L_uc002drb.2_Missense_Mutation_p.V596I|ATXN2L_uc002dqy.2_Missense_Mutation_p.V596I|ATXN2L_uc002dra.2_Missense_Mutation_p.V596I|ATXN2L_uc002dqz.2_Missense_Mutation_p.V596I|ATXN2L_uc010vdb.1_Missense_Mutation_p.V602I|ATXN2L_uc002dre.2_Missense_Mutation_p.V596I|ATXN2L_uc002drf.2_Missense_Mutation_p.V5I|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	596						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GGGGTCTCCCGTCTCCTCCAA	0.577													A	28844506	G	A	28844506	3	1	270	1	0	0	0	0	1	0	0	0	1212	1145	40	1	1840	1	ATXN2L	16	28844506	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	337417	28844506	61510247	1052	134552											
QPRT	23475	broad.mit.edu	37	chr16	29708624	29708624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccagttctgcgggccGcacatagacgtcatctccat	8	17	3	1	rs113611997		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:29708624G>A	uc002dto.2	+	4	864	c.786G>A	c.(784-786)CCG>CCA	p.P262P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_RNA	NM_014298	NP_055113	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	262					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity				0					Niacin(DB00627)	TCTGCGGGCCGCACATAGACG	0.627													A	29708624	G	A	29708624	2	1	270	1	0	0	0	0	0	0	0	1	12876	1074	38	1		1	QPRT	16	29708624	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	864118	29708624	60646129	1053	134553											
ASPHD1	253982	broad.mit.edu	37	chr16	29912905	29912905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctttgtgccgcgggacGcccagcggcacgacgtggag	15	16	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:29912905G>A	uc002dut.2	+	1	759	c.613G>A	c.(613-615)GCC>ACC	p.A205T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	205	Lumenal (Potential).				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				0						GCCGCGGGACGCCCAGCGGCA	0.667													A	29912905	G	A	29912905	3	1	270	1	0	0	0	0	1	0	0	0	1054	1087	38	1	615	1	ASPHD1	16	29912905	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	204281	29912905	60441848	1054	134554											
TAOK2	9344	broad.mit.edu	37	chr16	29997869	29997869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccttccactccccattcCtggggctctgggcccaccca	10	19	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:29997869C>A	uc002dva.1	+	16	3059	c.2276C>A	c.(2275-2277)CCT>CAT	p.P759H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.P766H|TAOK2_uc002dvd.1_Missense_Mutation_p.P586H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	759					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			ovary(1)	1						CTCCCCATTCCTGGGGCTCTG	0.647													A	29997869	C	A	29997869	3	1	270	1	0	0	0	0	1	0	0	0	15545	681	24	5	2334	5	TAOK2	16	29997869	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	84964	29997869	60356884	1055	134555											
PPP4C	5531	broad.mit.edu	37	chr16	30096043	30096043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacctatttggcagtgacGtggtggcccagttcaacgca	12	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30096043G>A	uc002dwe.2	+	8	805	c.661G>A	c.(661-663)GTG>ATG	p.V221M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.V221M|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.V142M	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	221					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			skin(1)	1						TGGCAGTGACGTGGTGGCCCA	0.582													A	30096043	G	A	30096043	3	1	270	1	0	0	0	0	1	0	0	0	12402	1145	40	1	687	1	PPP4C	16	30096043	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	98174	30096043	60258710	1056	134556											
TBX6	6911	broad.mit.edu	37	chr16	30097591	30097591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagatagcccccaggcgcGgtgtatggtagagggaaggg	17	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30097591G>A	uc010veh.1	-	9	1326	c.1266C>T	c.(1264-1266)ACC>ACT	p.T422T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	422					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CCCCAGGCGCGGTGTATGGTA	0.667													A	30097591	G	A	30097591	2	1	270	1	0	0	0	0	0	0	0	1	15659	1103	39	1		1	TBX6	16	30097591	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1548	30097591	60257162	1057	134557											
PHKG2	5261	broad.mit.edu	37	chr16	30768017	30768018	+	Frame_Shift_Ins	INS	-	-	C													agccaaccctggaacctcacINScccccgccagcggttccggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30768016_30768017A>AC	uc002dzk.2	+	8	1117_1118	c.907_908A>AC	c.(907-909)accfs	p.T303fs	PHKG2_uc021tgo.1_Frame_Shift_Ins_p.T303fs	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	303					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTGGAACCTCACCCCCCGCCAG	0.629													C	30768018	-	C	30768017	7	5	270	1	0	1	1	0	0	0	0	0	11847	507	18	0	938	0	PHKG2	16	30768017	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	670426	30768017	59586736	1058	134558											
SETD1A	9739	broad.mit.edu	37	chr16	30977128	30977128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagacctgatgggccgccGccccctgagtaccccccacc	9	22	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30977128G>A	uc002ead.1	+	8	2612	c.1926G>A	c.(1924-1926)CCG>CCA	p.P642P		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	642	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			ovary(2)|skin(1)	3						ATGGGCCGCCGCCCCCTGAGT	0.557													A	30977128	G	A	30977128	2	1	270	1	0	0	0	0	0	0	0	1	14130	1074	38	1		1	SETD1A	16	30977128	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	209111	30977128	59377625	1059	134559											
PYDC1	260434	broad.mit.edu	37	chr16	31228252	31228252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcgctcaaagccctcgCgcagcggcaccgtccccagc	12	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:31228252C>T	uc002ebo.2	-	1	147	c.98G>A	c.(97-99)CGC>CAC	p.R33H	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	33	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				0						AAAGCCCTCGCGCAGCGGCAC	0.637													T	31228252	C	T	31228252	3	4	270	1	0	0	0	0	1	0	0	0	12858	768	27	1	175	1	PYDC1	16	31228252	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	251124	31228252	59126501	1060	134560											
ITGAM	3684	broad.mit.edu	37	chr16	31342529	31342529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtccccaaccccctgcCgctcatcgtgggcagctctg	11	18	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:31342529C>T	uc002ebq.2	+	29	3418	c.3320C>T	c.(3319-3321)CCG>CTG	p.P1107L	ITGAM_uc002ebr.2_Missense_Mutation_p.P1108L|ITGAM_uc010can.2_Missense_Mutation_p.P513L	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1107	Helical; (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						AACCCCCTGCCGCTCATCGTG	0.682													T	31342529	C	T	31342529	3	4	270	1	0	0	0	0	1	0	0	0	7887	652	23	1	3437	1	ITGAM	16	31342529	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	114277	31342529	59012224	1061	134561											
PHKB	5257	broad.mit.edu	37	chr16	47674948	47674948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttattctgcattacagggCccactggaaaatgacttggt	9	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:47674948C>T	uc002eev.3	+	15	1513	c.1461C>T	c.(1459-1461)GGC>GGT	p.G487G	PHKB_uc002eeu.3_Silent_p.G480G	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	487					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CATTACAGGGCCCACTGGAAA	0.378													T	47674948	C	T	47674948	2	4	270	1	0	0	0	0	0	0	0	1	11845	726	26	2		2	PHKB	16	47674948	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	16332419	47674948	42679805	1062	134562											
PHKB	5257	broad.mit.edu	37	chr16	47684785	47684785	+	Frame_Shift_Del	DEL	A	A	-													tagatatgctggcagcccttAaaaaaggaataattggagga					rs35494330		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:47684784_47684784TA>T	uc002eev.4	+	19	1975	c.1923_1923TA>T	c.(1921-1923)cttfs	p.L641fs	PHKB_uc002eeu.4_Frame_Shift_Del_p.L634fs	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	641					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)				TGGCAGCCCTTAAAAAAGGAA	0.338													-	47684785	A	-	47684785	7	5	270	1	0	1	0	1	0	0	0	0	11845	363	13	0	2061	0	PHKB	16	47684785	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	9837	47684785	42669968	1063	134563											
CBLN1	869	broad.mit.edu	37	chr16	49315263	49315263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggacgtggggttggagtcGcacaccaccaggcacttgcc	14	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:49315263G>A	uc002efq.2	-	1	453	c.114C>T	c.(112-114)TGC>TGT	p.C38C		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	38					nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				GGTTGGAGTCGCACACCACCA	0.692													A	49315263	G	A	49315263	2	1	270	1	0	0	0	0	0	0	0	1	2704	1079	38	1		1	CBLN1	16	49315263	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1630478	49315263	41039490	1064	134564											
SALL1	6299	broad.mit.edu	37	chr16	51173541	51173541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctgattttccaaagcAgcgatgctcgacatctcgag	8	11	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:51173541A>G	uc010vgs.1	-	2	2623	c.2592T>C	c.(2590-2592)GCT>GCC	p.A864A	SALL1_uc010vgr.1_Silent_p.A767A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	864					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTCCAAAGCAGCGATGCTCG	0.552													G	51173541	A	G	51173541	2	3	270	1	0	0	0	0	0	0	0	1	13810	175	7	3		3	SALL1	16	51173541	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1858278	51173541	39181212	1065	134565											
KIFC3	3801	broad.mit.edu	37	chr16	57794956	57794956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctgccactctcacccGtggtgcggaggcctgtgctg	14	15	1	0	rs150459486	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:57794956G>A	uc002emp.2	-	15	2197	c.2000C>T	c.(1999-2001)ACG>ATG	p.T667M	KIFC3_uc010vhw.1_Missense_Mutation_p.T565M|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.T528M|KIFC3_uc010vhx.1_Missense_Mutation_p.T525M|KIFC3_uc010cdf.2_Missense_Mutation_p.T528M|KIFC3_uc002emo.3_Missense_Mutation_p.T528M|KIFC3_uc010vhy.1_Missense_Mutation_p.T609M|KIFC3_uc002emq.2_Missense_Mutation_p.T667M|KIFC3_uc010vhz.1_Missense_Mutation_p.T689M	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	667	Kinesin-motor.				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			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				ACTCTCACCCGTGGTGCGGAG	0.667													A	57794956	G	A	57794956	3	1	270	1	0	0	0	0	1	0	0	0	8314	1145	40	1	530	1	KIFC3	16	57794956	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	6621415	57794956	32559797	1066	134566											
KIFC3	3801	broad.mit.edu	37	chr16	57828936	57828936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcaggtagagcccgtggGggcttccggggccagcccag	19	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:57828936G>A	uc002emp.2	-	3	487	c.290C>T	c.(289-291)CCC>CTC	p.P97L	KIFC3_uc010cdf.2_5'UTR|KIFC3_uc002emo.3_5'UTR|KIFC3_uc010vhy.1_5'UTR|KIFC3_uc002emq.2_Missense_Mutation_p.P97L|KIFC3_uc010vhz.1_Missense_Mutation_p.P119L|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Intron	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	97					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			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				GAGCCCGTGGGGGCTTCCGGG	0.667													A	57828936	G	A	57828936	3	1	270	1	0	0	0	0	1	0	0	0	8314	1232	43	4	2288	4	KIFC3	16	57828936	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	33980	57828936	32525817	1067	134567											
CDH11	1009	broad.mit.edu	37	chr16	64984700	64984700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgatgcaggcgaggatggCgatcagggcgcctgtgctca	17	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:64984700C>T	uc002eoi.2	-	12	2298	c.1864G>A	c.(1864-1866)GCC>ACC	p.A622T	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.A622T|CDH11_uc010vin.1_Missense_Mutation_p.A496T	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	622	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCGAGGATGGCGATCAGGGCG	0.622			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	64984700	C	T	64984700	3	4	270	1	0	0	0	0	1	0	0	0	3097	768	27	1	534	1	CDH11	16	64984700	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7155764	64984700	25370053	1068	134568											
CES8	283848	broad.mit.edu	37	chr16	67037006	67037006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcctcgggtctcttccatCgggccatttcccagagtggc	11	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67037006C>T	uc002eqv.2	+	6	767	c.724C>T	c.(724-726)CGG>TGG	p.R242W	CES8_uc010vix.1_Missense_Mutation_p.R242W|CES8_uc002eqw.2_Missense_Mutation_p.R242W|CES8_uc002eqy.2_Missense_Mutation_p.R144W|CES8_uc002eqx.2_Missense_Mutation_p.R48W|CES8_uc010viy.1_Missense_Mutation_p.R148W|CES8_uc010viz.1_Missense_Mutation_p.R144W|CES8_uc002eqz.2_5'Flank	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	242						extracellular region	carboxylesterase activity				0						TCTCTTCCATCGGGCCATTTC	0.552													T	67037006	C	T	67037006	3	4	270	1	0	0	0	0	1	0	0	0	3273	875	31	1	827	1	CES8	16	67037006	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2052306	67037006	23317747	1069	134569											
EXOC3L	283849	broad.mit.edu	37	chr16	67222722	67222722	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctgtaaggcctgggacAtgccctggagcaacccacgg	14	12	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67222722A>G	uc002erx.1	-	4	570	c.329T>C	c.(328-330)ATG>ACG	p.M110T	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Intron|EXOC3L_uc010vje.1_Intron	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	110	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		GGCCTGGGACATGCCCTGGAG	0.672													G	67222722	A	G	67222722	3	3	270	1	0	0	0	0	1	0	0	0	5304	217	8	3	1955	3	EXOC3L	16	67222722	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	185716	67222722	23132031	1070	134570											
TMEM208	29100	broad.mit.edu	37	chr16	67262891	67262891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtaggctccaggccggGccctttacctcctgtgggtg	13	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67262891G>A	uc002esi.2	+	6	503	c.397G>A	c.(397-399)GCC>ACC	p.A133T	LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	HSPC171 protein	133						integral to membrane					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCAGGCCGGGCCCTTTACCT	0.592													A	67262891	G	A	67262891	3	1	270	1	0	0	0	0	1	0	0	0	16130	1203	42	2	419	2	TMEM208	16	67262891	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	40169	67262891	23091862	1071	134571											
SLC9A5	6553	broad.mit.edu	37	chr16	67293845	67293845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctctacaagccgcgccGtagggtgagagcaggcaggc	16	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67293845G>A	uc002esm.2	+	12	1901	c.1838G>A	c.(1837-1839)CGT>CAT	p.R613H	SLC9A5_uc010cee.2_Missense_Mutation_p.R318H|SLC9A5_uc010vji.1_Missense_Mutation_p.R117H|uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	613					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAGCCGCGCCGTAGGGTGAGA	0.587													A	67293845	G	A	67293845	3	1	270	1	0	0	0	0	1	0	0	0	14717	1145	40	1	1884	1	SLC9A5	16	67293845	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	30954	67293845	23060908	1072	134572											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477083	67477083	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctggaaaaaagccgcTggggaggaaacatggtttga	14	7	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67477083T>G	uc002ete.1	-	4	582	c.482_splice	c.e4-1	p.A161_splice	ATP6V0D1_uc010vjo.1_Splice_Site_p.A202_splice|ATP6V0D1_uc010vjn.1_Splice_Site_p.A84_splice	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit						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					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AAAAAGCCGCTGGGGAGGAAA	0.557													G	67477083	T	G	67477083	5	3	270	1	0	0	0	0	0	0	1	0	1173	1594	55	5	595	5	ATP6V0D1	16	67477083	Splice_Site	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	183238	67477083	22877670	1073	134573											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67478439	67478439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcggctcaccaagaggcGtgtccaccagaatggcattg	12	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67478439G>A	uc002ete.1	-	3	573	c.473C>T	c.(472-474)ACG>ATG	p.T158M	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.T199M|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.T81M	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	158					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					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ACCAAGAGGCGTGTCCACCAG	0.622													A	67478439	G	A	67478439	3	1	270	1	0	0	0	0	1	0	0	0	1173	1145	40	1	606	1	ATP6V0D1	16	67478439	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1356	67478439	22876314	1074	134574											
HAS3	3038	broad.mit.edu	37	chr16	69148385	69148385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgggcatgtaccgcaacaGcctcctccagcagttcctgg	10	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:69148385G>C	uc010cfh.2	+	4	1102	c.878G>C	c.(877-879)AGC>ACC	p.S293T	HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.S293T	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	293	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGCAACAGCCTCCTCCAG	0.597													C	69148385	G	C	69148385	3	2	270	1	0	0	0	0	1	0	0	0	6963	971	34	5	888	5	HAS3	16	69148385	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1669946	69148385	21206368	1075	134575											
NFAT5	10725	broad.mit.edu	37	chr16	69727392	69727392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagaacaggcacaacccCcgcagcagggtttatttcag	9	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:69727392C>T	uc002exm.1	+	12	4818	c.3610C>T	c.(3610-3612)CCG>TCG	p.P1204S	NFAT5_uc002exi.2_Missense_Mutation_p.P1128S|NFAT5_uc002exj.1_Missense_Mutation_p.P1128S|NFAT5_uc002exk.1_Missense_Mutation_p.P1128S|NFAT5_uc002exl.1_Missense_Mutation_p.P1222S|NFAT5_uc002exn.1_Missense_Mutation_p.P1221S|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1204					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCACAACCCCCGCAGCAGGG	0.507													T	69727392	C	T	69727392	3	4	270	1	0	0	0	0	1	0	0	0	10360	623	22	4	3714	4	NFAT5	16	69727392	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	579007	69727392	20627361	1076	134576											
DDX19B	11269	broad.mit.edu	37	chr16	70359496	70359496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctatgtctctccccaaCgtatgagctcgccctccaaa	7	15	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:70359496C>T	uc002eyo.2	+	7	641	c.512C>T	c.(511-513)ACG>ATG	p.T171M	DDX19B_uc010vly.1_Missense_Mutation_p.T171M|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.T145M|DDX19B_uc010vlw.1_Missense_Mutation_p.T62M|DDX19B_uc002eyp.2_Missense_Mutation_p.T140M|DDX19B_uc002eyq.2_Missense_Mutation_p.T62M|DDX19B_uc002eyr.2_Missense_Mutation_p.T20M|DDX19B_uc010vlx.1_Missense_Mutation_p.T20M|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	171	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				CTCTCCCCAACGTATGAGCTC	0.428													T	70359496	C	T	70359496	3	4	270	1	0	0	0	0	1	0	0	0	4347	536	19	1	538	1	DDX19B	16	70359496	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	632104	70359496	19995257	1077	134577											
VAC14	55697	broad.mit.edu	37	chr16	70765531	70765531	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattctaagcctttggtacCtgtagagaaagggatagagc	11	7	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:70765531C>A	uc002ezm.2	-	14	1787	c.1529_splice	c.e14-1	p.G510_splice	VAC14_uc010cfw.2_Splice_Site_p.G276_splice|VAC14_uc002ezn.2_Splice_Site_p.G75_splice|VAC14_uc002ezl.2_5'Flank|VAC14_uc010cfx.1_Splice_Site	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog						interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				CCTTTGGTACCTGTAGAGAAA	0.388													A	70765531	C	A	70765531	5	1	270	1	0	0	0	0	0	0	1	0	17108	695	24	5	844	5	VAC14	16	70765531	Splice_Site	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	406035	70765531	19589222	1078	134578											
WDR59	79726	broad.mit.edu	37	chr16	74908338	74908338	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtggctgcagtacacgccGaactctggaaatgggcaggg	15	10	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:74908338G>A	uc002fdh.1	-	26	2796	c.2694C>T	c.(2692-2694)TTC>TTT	p.F898F	WDR59_uc002fdf.1_Silent_p.F343F|WDR59_uc002fdg.1_Silent_p.F490F	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	898										ovary(1)|breast(1)	2						AGTACACGCCGAACTCTGGAA	0.557													A	74908338	G	A	74908338	2	1	270	1	0	0	0	0	0	0	0	1	17305	1049	37	1		1	WDR59	16	74908338	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4142807	74908338	15446415	1079	134579											
MAF	4094	broad.mit.edu	37	chr16	79632973	79632973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaccccgcgcagctgcCggttcagctcgcgcacagac	12	17	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:79632973C>T	uc002ffn.2	-	1	1650	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	MAF_uc002ffm.2_Missense_Mutation_p.R276Q	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	276	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCGCAGCTGCCGGTTCAGCTC	0.657			T	IGH@	MM								T	79632973	C	T	79632973	3	4	270	1	0	0	0	0	1	0	0	0	9155	652	23	1	396	1	MAF	16	79632973	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4724635	79632973	10721780	1080	134580											
CMIP	80790	broad.mit.edu	37	chr16	81641248	81641248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctgggagaatgcccCgaagtactgtttacagctca	11	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:81641248C>T	uc002fgp.2	+	2	449	c.377C>T	c.(376-378)CCG>CTG	p.P126L	CMIP_uc002fgq.1_Missense_Mutation_p.P32L|CMIP_uc010vnq.1_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	92	PH.					cytoplasm|nucleus					0						GAGAATGCCCCGAAGTACTGT	0.463													T	81641248	C	T	81641248	3	4	270	1	0	0	0	0	1	0	0	0	3578	652	23	1	405	1	CMIP	16	81641248	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2008275	81641248	8713505	1081	134581											
ATP2C2	9914	broad.mit.edu	37	chr16	84494363	84494363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaagatcctcatgtccGcggccatcatcatcagcggg	10	14	4	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:84494363G>A	uc002fhx.2	+	24	2526	c.2437G>A	c.(2437-2439)GCG>ACG	p.A813T	ATP2C2_uc010chj.2_Missense_Mutation_p.A842T|ATP2C2_uc002fhy.2_Missense_Mutation_p.A830T|ATP2C2_uc002fhz.2_Missense_Mutation_p.A662T|ATP2C2_uc002fia.2_Missense_Mutation_p.A124T	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	813	Helical; Name=7; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CCTCATGTCCGCGGCCATCAT	0.622													A	84494363	G	A	84494363	3	1	270	1	0	0	0	0	1	0	0	0	1144	1087	38	1	2531	1	ATP2C2	16	84494363	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2853115	84494363	5860390	1082	134582											
KIAA1609	57707	broad.mit.edu	37	chr16	84520283	84520283	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcaagaggcaaacccaccGaacacatgcttgtcatggtc	10	12	1	1	rs145452661	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:84520283G>A	uc002fib.2	-	5	1019	c.912C>T	c.(910-912)TTC>TTT	p.F304F	KIAA1609_uc010vod.1_Silent_p.F277F|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	304	TLD.						protein binding			ovary(2)	2						CAAACCCACCGAACACATGCT	0.572													A	84520283	G	A	84520283	2	1	270	1	0	0	0	0	0	0	0	1	8247	1049	37	1		1	KIAA1609	16	84520283	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	25920	84520283	5834470	1083	134583											
KIAA0182	23199	broad.mit.edu	37	chr16	85701857	85701857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccaccccagcacaatgGgcagcaggagccccccactg	9	20	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:85701857G>T	uc002fix.2	+	14	3316	c.3242G>T	c.(3241-3243)GGG>GTG	p.G1081V	KIAA0182_uc002fiw.2_Missense_Mutation_p.G977V|KIAA0182_uc002fiy.2_Missense_Mutation_p.G1008V|KIAA0182_uc002fiz.2_Missense_Mutation_p.G223V|KIAA0182_uc010cho.2_Missense_Mutation_p.G261V	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1081							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CAGCACAATGGGCAGCAGGAG	0.512													T	85701857	G	T	85701857	3	4	270	1	0	0	0	0	1	0	0	0	8159	1232	43	5	3296	5	KIAA0182	16	85701857	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1181574	85701857	4652896	1084	134584											
ZC3H18	124245	broad.mit.edu	37	chr16	88666260	88666260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaagagaaaaggtttaCggtgaccattggcgaagacg	13	5	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88666260C>T	uc002fky.2	+	6	1192	c.992C>T	c.(991-993)ACG>ATG	p.T331M	ZC3H18_uc010voy.1_Missense_Mutation_p.T214M|ZC3H18_uc010voz.1_Missense_Mutation_p.T355M	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	331						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAAAGGTTTACGGTGACCATT	0.388													T	88666260	C	T	88666260	3	4	270	1	0	0	0	0	1	0	0	0	17565	536	19	1	1010	1	ZC3H18	16	88666260	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2964403	88666260	1688493	1085	134585											
CTU2	348180	broad.mit.edu	37	chr16	88781638	88781638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgattgaggacagtgaCgacgaggcgggccagagctg	17	8	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88781638C>T	uc002flm.2	+	15	1575	c.1527C>T	c.(1525-1527)GAC>GAT	p.D509D	CTU2_uc002fln.2_3'UTR|CTU2_uc010chz.2_Silent_p.D580D|CTU2_uc010cia.2_Silent_p.D422D|FAM38A_uc002flo.3_3'UTR|FAM38A_uc002flp.3_3'UTR|FAM38A_uc002flq.3_3'UTR|FAM38A_uc002flr.3_3'UTR|FAM38A_uc010cib.2_3'UTR|FAM38A_uc010vpb.1_3'UTR	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	509					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						AGGACAGTGACGACGAGGCGG	0.667													T	88781638	C	T	88781638	2	4	270	1	0	0	0	0	0	0	0	1	4048	535	19	1		1	CTU2	16	88781638	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	115378	88781638	1573115	1086	134586											
CDT1	81620	broad.mit.edu	37	chr16	88872228	88872228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccaccttcaaggatggCaccaggaggtcagattacca	10	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88872228C>T	uc002flu.2	+	5	837	c.783C>T	c.(781-783)GGC>GGT	p.G261G		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	261					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TCAAGGATGGCACCAGGAGGT	0.597													T	88872228	C	T	88872228	2	4	270	1	0	0	0	0	0	0	0	1	3180	697	25	2		2	CDT1	16	88872228	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	90590	88872228	1482525	1087	134587											
APRT	353	broad.mit.edu	37	chr16	88876126	88876128	+	In_Frame_Del	DEL	AGA	AGA	-													tcactcatactgcaggagagAgaagaagggtacaggtgcca					rs121912681		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88876125_88876127GAGA>G	uc002flv.3	-	4	557_559	c.522_524TCTC>C	c.(520-525)ttctct>ttCt	p.S175del	APRT_uc002flw.3_Intron	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	175					purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CTGCAGGAGAGAGAAGAAGGGTA	0.616													-	88876128	AGA	-	88876126	7	5	270	1	0	1	0	1	0	0	0	0	819	304	11	0	23	0	APRT	16	88876126	In_Frame_Del	DEL	AGA	TCGA-HU-A4GN-01A-11D-A25D-08	3898	88876126	1478627	1088	134588											
CDH15	1013	broad.mit.edu	37	chr16	89245841	89245841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctctgcctgtctttGggggttcctggatggaggag	16	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89245841G>T	uc002fmt.2	+	2	137	c.60G>T	c.(58-60)TTG>TTT	p.L20F	CDH15_uc010cij.1_Missense_Mutation_p.L20F	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	20					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			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCTGTCTTTGGGGGTTCCTG	0.687													T	89245841	G	T	89245841	3	4	270	1	0	0	0	0	1	0	0	0	3100	1339	47	5	66	5	CDH15	16	89245841	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	369715	89245841	1108912	1089	134589											
CDH15	1013	broad.mit.edu	37	chr16	89254627	89254627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccatcctggaaggcgaCcccgatgggcagttcaccat	10	14	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89254627C>T	uc002fmt.2	+	7	989	c.912C>T	c.(910-912)GAC>GAT	p.D304D		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	304	Cadherin 3.|Extracellular (Potential).				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			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGGAAGGCGACCCCGATGGGC	0.652													T	89254627	C	T	89254627	2	4	270	1	0	0	0	0	0	0	0	1	3100	506	18	4		4	CDH15	16	89254627	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	8786	89254627	1100126	1090	134590											
ANKRD11	29123	broad.mit.edu	37	chr16	89349838	89349838	+	Frame_Shift_Del	DEL	T	T	-													ttccaggattgatttctcacTtttgtccttgtcactggatt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89349837_89349837CT>C	uc002fmx.1	-	8	3574	c.3113_3113AG>G	c.(3112-3114)agtfs	p.S1038fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.S1038fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.S1038fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.S995fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1038	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)		TGATTTCTCACTTTTGTCCTT	0.383													-	89349838	T	-	89349838	7	5	270	1	0	1	0	1	0	0	0	0	639	1609	56	0	4899	0	ANKRD11	16	89349838	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	95211	89349838	1004915	1091	134591											
CPNE7	27132	broad.mit.edu	37	chr16	89661933	89661933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcctggacggcgacgaCggcgtcctgcgctccccacg	14	17	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89661933C>T	uc002fnp.2	+	16	1816	c.1686C>T	c.(1684-1686)GAC>GAT	p.D562D	CPNE7_uc002fnq.2_Silent_p.D487D	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	562	VWFA.				lipid metabolic process		transporter activity				0		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)		ACGGCGACGACGGCGTCCTGC	0.672													T	89661933	C	T	89661933	2	4	270	1	0	0	0	0	0	0	0	1	3817	535	19	1		1	CPNE7	16	89661933	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	312095	89661933	692820	1092	134592											
ABR	29	broad.mit.edu	37	chr17	910465	910465	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggtgtgctttgctctcCacttctgagggtctcagtaa	12	9	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:910465C>A	uc002fsd.2	-	22	2540	c.2430G>T	c.(2428-2430)GTG>GTT	p.V810V	ABR_uc002fse.2_Silent_p.V764V|ABR_uc010vqf.1_Silent_p.V261V|ABR_uc010vqg.1_Silent_p.V592V|ABR_uc002fsg.2_Silent_p.V773V|ABR_uc002fsf.2_Silent_p.V347V	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	810	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			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTTTGCTCTCCACTTCTGAGG	0.597													A	910465	C	A	910465	2	1	270	1	0	0	0	0	0	0	0	1	99	581	21	5		5	ABR	17	910465	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		910465	80284745	1093	134593											
INPP5K	51763	broad.mit.edu	37	chr17	1410361	1410361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcccggagcagcgggTcatgtttcttggcaatgctg	14	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:1410361T>C	uc002fsr.2	-	7	1078	c.689A>G	c.(688-690)GAC>GGC	p.D230G	INPP5K_uc002fss.2_Missense_Mutation_p.D154G|INPP5K_uc002fsq.2_Missense_Mutation_p.D154G|INPP5K_uc010cjr.2_Missense_Mutation_p.D154G|INPP5K_uc010vql.1_Missense_Mutation_p.D138G|INPP5K_uc010vqm.1_Missense_Mutation_p.D134G	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	230	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						GAGCAGCGGGTCATGTTTCTT	0.562													C	1410361	T	C	1410361	3	2	270	1	0	0	0	0	1	0	0	0	7760	1667	58	3	681	3	INPP5K	17	1410361	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	499896	1410361	79784849	1094	134594											
PRPF8	10594	broad.mit.edu	37	chr17	1579520	1579520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctataagcttccttgagccGctccaatgccaagatgagca	8	13	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:1579520G>A	uc002fte.2	-	17	2647	c.2533C>T	c.(2533-2535)CGG>TGG	p.R845W		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	845						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCTTGAGCCGCTCCAATGCC	0.517													A	1579520	G	A	1579520	3	1	270	1	0	0	0	0	1	0	0	0	12575	1086	38	1	4582	1	PRPF8	17	1579520	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	169159	1579520	79615690	1095	134595											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840254	1840254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcctggccgtgccGcagcccaggggacacacagg	14	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:1840254G>A	uc002ftp.2	-	2	881	c.862C>T	c.(862-864)CGG>TGG	p.R288W		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	288	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity				0						TGGCCGTGCCGCAGCCCAGGG	0.677													A	1840254	G	A	1840254	3	1	270	1	0	0	0	0	1	0	0	0	13731	1086	38	1	467	1	RTN4RL1	17	1840254	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	260734	1840254	79354956	1096	134596											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-													tattatgttttctgtagactAaaaaaagtggtaaacctggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:2579801_2579801TA>T	uc002fuw.4	+	8	1471	c.903_903TA>T	c.(901-903)actfs	p.T301fs	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	301	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|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						TTCTGTAGACTAAAAAAAGTG	0.358													-	2579802	A	-	2579802	7	5	270	1	0	1	0	1	0	0	0	0	11384	363	13	0	934	0	PAFAH1B1	17	2579802	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	739548	2579802	78615408	1097	134597											
ITGAE	3682	broad.mit.edu	37	chr17	3651342	3651342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcgaaccacaggccGggagctaaacaagacagcaa	11	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:3651342G>A	uc002fwo.3	-	17	2128	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	677	FG-GAP 7.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCACAGGCCGGGAGCTAAAC	0.493													A	3651342	G	A	3651342	3	1	270	1	0	0	0	0	1	0	0	0	7885	1115	39	1	1570	1	ITGAE	17	3651342	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1071540	3651342	77543868	1098	134598											
SMTNL2	342527	broad.mit.edu	37	chr17	4510676	4510676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctggccaactgtgagcGcctcatcgaagtggaggaca	13	10	2	1	rs141427435		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:4510676G>A	uc002fyf.1	+	8	1347	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	SMTNL2_uc002fye.2_Missense_Mutation_p.R283H	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	427	CH.										0				READ - Rectum adenocarcinoma(115;0.0325)		AACTGTGAGCGCCTCATCGAA	0.617													A	4510676	G	A	4510676	3	1	270	1	0	0	0	0	1	0	0	0	14816	1087	38	1	1310	1	SMTNL2	17	4510676	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	859334	4510676	76684534	1099	134599											
PELP1	27043	broad.mit.edu	37	chr17	4594216	4594216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgctccgaagccaagaCacacagtgctgctggaatag	11	10	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:4594216C>T	uc002fyi.3	-	3	613	c.387G>A	c.(385-387)GTG>GTA	p.V129V	PELP1_uc010vsf.1_5'UTR	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	129					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GAAGCCAAGACACACAGTGCT	0.532													T	4594216	C	T	4594216	2	4	270	1	0	0	0	0	0	0	0	1	11725	465	17	4		4	PELP1	17	4594216	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	83540	4594216	76600994	1100	134600											
ZNF594	84622	broad.mit.edu	37	chr17	5085407	5085407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgccacatgaagagTttcccacattccttacattc	7	13	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:5085407T>C	uc010cla.1	-	2	2301	c.2145A>G	c.(2143-2145)AAA>AAG	p.K715K		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	715	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						ACATGAAGAGTTTCCCACATT	0.468													C	5085407	T	C	5085407	2	2	270	1	0	0	0	0	0	0	0	1	18021	1722	60	3		3	ZNF594	17	5085407	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	491191	5085407	76109803	1101	134601											
BCL6B	255877	broad.mit.edu	37	chr17	6927490	6927490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccgaagcgagaggcttcGcccctctattggacttcatg	11	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:6927490G>A	uc002geg.2	+	3	325	c.268G>A	c.(268-270)GCC>ACC	p.A90T	BCL6B_uc010clt.1_Missense_Mutation_p.A90T	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	90	BTB.					nucleus	zinc ion binding			skin(1)	1						GAGAGGCTTCGCCCCTCTATT	0.612													A	6927490	G	A	6927490	3	1	270	1	0	0	0	0	1	0	0	0	1377	1087	38	1	274	1	BCL6B	17	6927490	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1842083	6927490	74267720	1102	134602											
PHF23	79142	broad.mit.edu	37	chr17	7139748	7139748	+	Frame_Shift_Del	DEL	G	G	-													tccccctgggaaaggggcacGggggtaagagcagcaggggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7139747_7139747CG>C	uc002gfa.3	-	3	726	c.499_499CG>G	c.(499-501)gtgfs	p.V167fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Frame_Shift_Del_p.V100fs|PHF23_uc010cma.3_Frame_Shift_Del_p.V37fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	167							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAAAGGGGCACGGGGGTAAGA	0.607													-	7139748	G	-	7139748	7	5	270	1	0	1	0	1	0	0	0	0	11835	1103	39	0	721	0	PHF23	17	7139748	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	212258	7139748	74055462	1103	134603											
NEURL4	84461	broad.mit.edu	37	chr17	7227488	7227488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcgacgacagcatagacGcccgggggcacgttccaggc	14	13	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7227488G>A	uc002gga.1	-	11	2008	c.2001C>T	c.(1999-2001)GGC>GGT	p.G667G	NEURL4_uc002ggb.1_Silent_p.G667G|NEURL4_uc002ggc.1_Silent_p.G13G	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	667	NHR 3.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CAGCATAGACGCCCGGGGGCA	0.677											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7227488	G	A	7227488	2	1	270	1	0	0	0	0	0	0	0	1	10347	1074	38	1		1	NEURL4	17	7227488	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	87740	7227488	73967722	1104	134604											
TNFSF12-TNFSF13	407977	broad.mit.edu	37	chr17	7463439	7463470	+	Frame_Shift_Del	DEL	TGGTGTCCGAATCCAGGATGCTGGAGTTTATC	TGGTGTCCGAATCCAGGATGCTGGAGTTTATC	-													ggcctacaggcccaaggataTggtgtccgaatccaggatgc					rs7503669		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7463438_7463469ATGGTGTCCGAATCCAGGATGCTGGAGTTTATC>A	uc002ghi.1	+	8	794_825	c.698_729ATGGTGTCCGAATCCAGGATGCTGGAGTTTATC>A	c.(697-729)tatggtgtccgaatccaggatgctggagtttatfs	p.Y233fs	SENP3_uc002ghm.3_5'Flank|EIF4A1_uc002gho.2_5'Flank|TNFSF12-TNFSF13_uc002ghj.2_Frame_Shift_Del_p.Y153fs|TNFSF12-TNFSF13_uc002ghk.2_Frame_Shift_Del_p.Y153fs|TNFSF12-TNFSF13_uc021tpb.1_Frame_Shift_Del_p.Y108fs|TNFSF12-TNFSF13_uc002ghl.2_Frame_Shift_Del_p.Y137fs|TNFSF12-TNFSF13_uc010vua.1_Frame_Shift_Del_p.Y125fs|TNFSF12-TNFSF13_uc010cmk.2_Frame_Shift_Del_p.Y126fs	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	Homo sapiens TNFSF12-TNFSF13 readthrough (TNFSF12-TNFSF13), mRNA.	233					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				GCCCAAGGATATGGTGTCCGAATCCAGGATGCTGGAGTTTATCTGCTGTATA	0.556											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	7463470	TGGTGTCCGAATCCAGGATGCTGGAGTTTATC	-	7463439	7	5	270	1	0	1	0	1	0	0	0	0	16301	1471	51	0	733	0	TNFSF12-TNFSF13	17	7463439	Frame_Shift_Del	DEL	TGGTGTCCGAATCCAGGATGCTGGAGTTTATC	TCGA-HU-A4GN-01A-11D-A25D-08	235951	7463439	73731771	1105	134605											
TP53	7157	broad.mit.edu	37	chr17	7579313	7579313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcagggcaactgaccGtgcaagtcacagacttggct	11	14	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7579313G>A	uc002gim.2	-	4	568	c.374C>T	c.(373-375)ACG>ATG	p.T125M	TP53_uc002gig.1_Missense_Mutation_p.T125M|TP53_uc002gih.2_Missense_Mutation_p.T125M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.T125M|TP53_uc010cni.1_Missense_Mutation_p.T125M|TP53_uc002gij.2_Missense_Mutation_p.T125M|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.T86M|TP53_uc010cnk.1_Missense_Mutation_p.T140M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	125	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125R(3)|p.T125K(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.T125P(1)|p.T125fs*45(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GCAACTGACCGTGCAAGTCAC	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7579313	G	A	7579313	3	1	270	1	0	0	0	0	1	0	0	0	16378	1159	40	1	928	1	TP53	17	7579313	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	115874	7579313	73615897	1106	134606											
ALOX15B	247	broad.mit.edu	37	chr17	7942761	7942761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtgctgctgctgcgcGtgcacaaggcgcccccagtg	15	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7942761G>A	uc002gju.2	+	2	321	c.205G>A	c.(205-207)GTG>ATG	p.V69M	ALOX15B_uc002gjv.2_Missense_Mutation_p.V69M|ALOX15B_uc002gjw.2_Missense_Mutation_p.V69M|ALOX15B_uc010vun.1_Missense_Mutation_p.V69M|ALOX15B_uc010cnp.2_Translation_Start_Site	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	69	PLAT.				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			ovary(1)	1						GCTGCTGCGCGTGCACAAGGC	0.706													A	7942761	G	A	7942761	3	1	270	1	0	0	0	0	1	0	0	0	539	1145	40	1	211	1	ALOX15B	17	7942761	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	363448	7942761	73252449	1107	134607											
ALOX12B	242	broad.mit.edu	37	chr17	7976517	7976517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagcagcgtgatgcaCgtggtcttcacatccggcaa	11	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7976517C>T	uc002gjy.1	-	14	2136	c.1875G>A	c.(1873-1875)ACG>ACA	p.T625T		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	625	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						GCGTGATGCACGTGGTCTTCA	0.617										Multiple Myeloma(8;0.094)			T	7976517	C	T	7976517	2	4	270	1	0	0	0	0	0	0	0	1	537	523	19	1		1	ALOX12B	17	7976517	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	33756	7976517	73218693	1108	134608											
ARHGEF15	22899	broad.mit.edu	37	chr17	8222917	8222917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacacctgcacaagaccccTgaaggtgagaaagtctttca	8	11	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:8222917T>C	uc002glc.2	+	15	2491	c.2370T>C	c.(2368-2370)CCT>CCC	p.P790P	ARHGEF15_uc002gld.2_Silent_p.P790P|ARHGEF15_uc010vuw.1_Silent_p.P679P	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	790					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ACAAGACCCCTGAAGGTGAGA	0.333													C	8222917	T	C	8222917	2	2	270	1	0	0	0	0	0	0	0	1	898	1567	55	3		3	ARHGEF15	17	8222917	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	246400	8222917	72972293	1109	134609											
GAS7	8522	broad.mit.edu	37	chr17	9873070	9873070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtccctgatgcgtggTatccattcactgcagggaca	13	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:9873070T>C	uc002gmg.1	-	4	556	c.395A>G	c.(394-396)TAC>TGC	p.Y132C	GAS7_uc010vvd.1_Missense_Mutation_p.Y84C|GAS7_uc002gmi.2_Missense_Mutation_p.Y68C|GAS7_uc002gmj.1_Missense_Mutation_p.Y72C|GAS7_uc010coh.1_Missense_Mutation_p.Y72C	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	132					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						TGATGCGTGGTATCCATTCAC	0.607			T	MLL	AML*								C	9873070	T	C	9873070	3	2	270	1	0	0	0	0	1	0	0	0	6250	1638	57	3	1130	3	GAS7	17	9873070	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	1650153	9873070	71322140	1110	134610											
DNAH9	1770	broad.mit.edu	37	chr17	11840771	11840771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaaaagctcttccgcActgtgctggagctgcagcct	10	14	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:11840771A>G	uc002gne.2	+	66	12660	c.12592A>G	c.(12592-12594)ACT>GCT	p.T4198A	DNAH9_uc010coo.2_Missense_Mutation_p.T3416A|DNAH9_uc002gnf.2_Missense_Mutation_p.T510A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4198					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		GCTCTTCCGCACTGTGCTGGA	0.607													G	11840771	A	G	11840771	3	3	270	1	0	0	0	0	1	0	0	0	4608	159	6	3	12854	3	DNAH9	17	11840771	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1967701	11840771	69354439	1111	134611											
SREBF1	6720	broad.mit.edu	37	chr17	17720296	17720296	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtccaggtcagcctgCttgcgatgcctccagaagta	12	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:17720296C>G	uc002gru.1	-	9	1955	c.1761G>C	c.(1759-1761)AAG>AAC	p.K587N	SREBF1_uc002grp.1_Missense_Mutation_p.K206N|SREBF1_uc002grq.1_Missense_Mutation_p.K106N|SREBF1_uc002grr.1_Missense_Mutation_p.K333N|SREBF1_uc002grs.1_Missense_Mutation_p.K563N|SREBF1_uc002grt.1_Missense_Mutation_p.K617N	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	587	Cytoplasmic (Potential).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGTCAGCCTGCTTGCGATGCC	0.652													G	17720296	C	G	17720296	3	3	270	1	0	0	0	0	1	0	0	0	15140	796	28	5	1726	5	SREBF1	17	17720296	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5879525	17720296	63474914	1112	134612											
TOM1L2	146691	broad.mit.edu	37	chr17	17754260	17754260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacagatggctgcgcaaCggggatctatggaggcggca	16	9	1	2	rs150784633	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:17754260C>T	uc002grz.3	-	13	1442	c.1285G>A	c.(1285-1287)GTT>ATT	p.V429I	TOM1L2_uc002gry.3_Missense_Mutation_p.V379I|TOM1L2_uc010vwy.1_Missense_Mutation_p.V405I|TOM1L2_uc010cpr.2_Missense_Mutation_p.V384I|TOM1L2_uc010vwz.1_Missense_Mutation_p.V310I|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.V162I	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	429					intracellular protein transport	intracellular					0	all_neural(463;0.228)					GGCTGCGCAACGGGGATCTAT	0.587													T	17754260	C	T	17754260	3	4	270	1	0	0	0	0	1	0	0	0	16350	536	19	1	250	1	TOM1L2	17	17754260	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	33964	17754260	63440950	1113	134613											
MYO15A	51168	broad.mit.edu	37	chr17	18054563	18054563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccccatcaagcctgtggCtgcccctgttctagctcagg	10	16	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:18054563C>T	uc010vxh.1	+	38	7951	c.7613C>T	c.(7612-7614)GCT>GTT	p.A2538V	MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2538	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					AAGCCTGTGGCTGCCCCTGTT	0.642													T	18054563	C	T	18054563	3	4	270	1	0	0	0	0	1	0	0	0	10063	797	28	2	7759	2	MYO15A	17	18054563	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	300303	18054563	63140647	1114	134614											
LLGL1	3996	broad.mit.edu	37	chr17	18145266	18145266	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccggaacatcacagagccGctctgctctctggacattaa	9	14	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:18145266G>T	uc002gsp.2	+	19	2896	c.2835G>T	c.(2833-2835)CCG>CCT	p.P945P		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	945				P -> G (in Ref. 1; CAA60130).	cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TCACAGAGCCGCTCTGCTCTC	0.592													T	18145266	G	T	18145266	2	4	270	1	0	0	0	0	0	0	0	1	8833	1074	38	5		5	LLGL1	17	18145266	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	90703	18145266	63049944	1115	134615											
MFAP4	4239	broad.mit.edu	37	chr17	19287914	19287914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggcaaagtggcagctgCggaaccagaaggctcctgag	16	9	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:19287914C>T	uc002gvt.2	-	6	654	c.629G>A	c.(628-630)CGC>CAC	p.R210H	uc010vyt.1_5'Flank|MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_Missense_Mutation_p.R234H	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4 precursor	210	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GTGGCAGCTGCGGAACCAGAA	0.567													T	19287914	C	T	19287914	3	4	270	1	0	0	0	0	1	0	0	0	9517	768	27	1	142	1	MFAP4	17	19287914	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1142648	19287914	61907296	1116	134616											
ULK2	9706	broad.mit.edu	37	chr17	19729489	19729489	+	Frame_Shift_Del	DEL	A	A	-													tgctcaagaaaaggatggctAaaaaatgcttctgtaacaag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:19729488_19729488TA>T	uc002gwm.4	-	10	1308	c.799_799TA>A	c.(799-801)agcfs	p.S267fs	ULK2_uc002gwn.3_Frame_Shift_Del_p.S267fs	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	267	Protein kinase.				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)					AAAGGATGGCTAAAAAATGCT	0.299													-	19729489	A	-	19729489	7	5	270	1	0	1	0	1	0	0	0	0	16973	359	13	0	2380	0	ULK2	17	19729489	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	441575	19729489	61465721	1117	134617											
KCNJ12	3768	broad.mit.edu	37	chr17	21319768	21319768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagttcctgctgcccagcGccaactccttctgctacgag	8	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:21319768G>A	uc002gyv.1	+	3	1819	c.1114G>A	c.(1114-1116)GCC>ACC	p.A372T		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	372	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GCTGCCCAGCGCCAACTCCTT	0.612										Prostate(3;0.18)			A	21319768	G	A	21319768	3	1	270	1	0	0	0	0	1	0	0	0	8046	1087	38	1	1116	1	KCNJ12	17	21319768	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1590279	21319768	59875442	1118	134618											
LGALS9	3965	broad.mit.edu	37	chr17	25958317	25958320	+	Frame_Shift_Del	DEL	CCTA	CCTA	-													cttcagcggttcccaggctcCctacctgagtccagtgagtt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:25958316_25958319CCCTA>C	uc002gzp.3	+	0	143_146	c.25_28CCCTA>C	c.(25-30)ccctacfs	p.P9fs	LGALS9_uc002gzq.3_Frame_Shift_Del_p.P9fs|LGALS9_uc002gzr.3_5'UTR|LGALS9_uc010waa.2_5'UTR	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	9					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)		TTCCCAGGCTCCCTACCTGAGTCC	0.613													-	25958320	CCTA	-	25958317	7	5	270	1	0	1	0	1	0	0	0	0	8748	623	22	0	28	0	LGALS9	17	25958317	Frame_Shift_Del	DEL	CCTA	TCGA-HU-A4GN-01A-11D-A25D-08	4638549	25958317	55236893	1119	134619											
NOS2	4843	broad.mit.edu	37	chr17	26106007	26106007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctgggaactccaggccGcccacctcaagcagcatgtt	9	17	1	0	rs140983392	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:26106007G>A	uc002gzu.2	-	10	1344	c.1080C>T	c.(1078-1080)GGC>GGT	p.G360G	NOS2_uc010crh.1_Silent_p.G360G|NOS2_uc010wab.1_Silent_p.G360G	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	360					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			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACTCCAGGCCGCCCACCTCAA	0.567													A	26106007	G	A	26106007	2	1	270	1	0	0	0	0	0	0	0	1	10543	1074	38	1		1	NOS2	17	26106007	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	147690	26106007	55089203	1120	134620											
NLK	51701	broad.mit.edu	37	chr17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-													cgggaattgaagatgttgtgTttttttaagcatgataatgt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388													-	26449740	T	-	26449740	7	5	270	1	0	1	0	1	0	0	0	0	10466	1731	60	0	576	0	NLK	17	26449740	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	343733	26449740	54745470	1121	134621											
SLC46A1	113235	broad.mit.edu	37	chr17	26731940	26731940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctggacttctctggggCgggagccacatagagctgga	14	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:26731940C>T	uc002hbf.1	-	2	871	c.775G>A	c.(775-777)GCC>ACC	p.A259T	SLC46A1_uc002hbg.1_Missense_Mutation_p.A259T|SLC46A1_uc010wak.1_Missense_Mutation_p.A259T	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	259					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				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TTCTCTGGGGCGGGAGCCACA	0.532													T	26731940	C	T	26731940	3	4	270	1	0	0	0	0	1	0	0	0	14644	768	27	1	621	1	SLC46A1	17	26731940	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	282200	26731940	54463270	1122	134622											
SEZ6	124925	broad.mit.edu	37	chr17	27284384	27284384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagacatttaggggcccGgtcactccacttggggctgc	14	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:27284384G>A	uc002hdp.2	-	12	2670	c.2476C>T	c.(2476-2478)CGG>TGG	p.R826W	SEZ6_uc010crx.1_Missense_Mutation_p.R21W|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.R826W|SEZ6_uc002hdq.1_Missense_Mutation_p.R701W	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	826	Extracellular (Potential).|Sushi 4.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	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)			TTAGGGGCCCGGTCACTCCAC	0.562													A	27284384	G	A	27284384	3	1	270	1	0	0	0	0	1	0	0	0	14142	1115	39	1	545	1	SEZ6	17	27284384	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	552444	27284384	53910826	1123	134623											
TAOK1	57551	broad.mit.edu	37	chr17	27837956	27837956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaagaactgaatagTtttctcgagtcccagaaaag	9	7	1	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:27837956T>C	uc002hdz.1	+	15	1844	c.1650T>C	c.(1648-1650)AGT>AGC	p.S550S	TAOK1_uc010wbe.1_Silent_p.S550S|TAOK1_uc010wbf.1_Silent_p.S550S|TAOK1_uc002heb.1_Silent_p.S376S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	550	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			AACTGAATAGTTTTCTCGAGT	0.323													C	27837956	T	C	27837956	2	2	270	1	0	0	0	0	0	0	0	1	15544	1722	60	3		3	TAOK1	17	27837956	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	553572	27837956	53357254	1124	134624											
NF1	4763	broad.mit.edu	37	chr17	29552151	29552151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcactttctccttttttaCggggtaggatgtgatattcc	9	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:29552151C>T	uc002hgg.2	+	17	2217	c.1884C>T	c.(1882-1884)TAC>TAT	p.Y628Y	NF1_uc002hgh.2_Silent_p.Y628Y|NF1_uc010csn.1_Silent_p.Y488Y|NF1_uc002hgi.1_Translation_Start_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	628					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.?(2)|p.G629fs*5(1)|p.Y628fs*3(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		TCCTTTTTTACGGGGTAGGAT	0.398			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)			T	29552151	C	T	29552151	2	4	270	1	0	0	0	0	0	0	0	1	10356	547	19	1		1	NF1	17	29552151	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1714195	29552151	51643059	1125	134625											
SUZ12	23512	broad.mit.edu	37	chr17	30322710	30322710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatacctgcttacctctcCgtccacaagaaatggaagta	8	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:30322710C>T	uc002hgs.2	+	14	1945	c.1723C>T	c.(1723-1725)CGT>TGT	p.R575C	SUZ12_uc002hgt.2_Missense_Mutation_p.R552C	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	575	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTTACCTCTCCGTCCACAAGA	0.358			T	JAZF1	endometrial stromal tumours								T	30322710	C	T	30322710	3	4	270	1	0	0	0	0	1	0	0	0	15413	652	23	1	1777	1	SUZ12	17	30322710	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	770559	30322710	50872500	1126	134626											
SLFN5	162394	broad.mit.edu	37	chr17	33592319	33592319	+	Frame_Shift_Del	DEL	C	C	-													cacttgagttgcagtggcctCccccctccctcagaccagta							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:33592318_33592318TC>T	uc002hjf.4	+	4	2204	c.2087_2087TC>T	c.(2086-2088)ctcfs	p.L696fs	SLFN5_uc010wcg.2_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	696					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)		TGCAGTGGCCTCCCCCCTCCC	0.498													-	33592319	C	-	33592319	7	5	270	1	0	1	0	1	0	0	0	0	14737	842	30	0	2102	0	SLFN5	17	33592319	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	3269609	33592319	47602891	1127	134627											
GGNBP2	79893	broad.mit.edu	37	chr17	34934411	34934411	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggtttttcttttcaacAggttttgcactgattgcaaa	7	6	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:34934411A>G	uc002hnb.2	+	7	891	c.642_splice	c.e7-2	p.R214_splice	GGNBP2_uc002hna.2_Splice_Site_p.R214_splice|GGNBP2_uc002hnc.1_Missense_Mutation_p.R43G	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403						cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCTTTTCAACAGGTTTTGCAC	0.383													G	34934411	A	G	34934411	5	3	270	1	0	0	0	0	0	0	1	0	6359	202	7	3	662	3	GGNBP2	17	34934411	Splice_Site	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1342092	34934411	46260799	1128	134628											
HNF1B	6928	broad.mit.edu	37	chr17	36099531	36099531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagatgctgggagaggtgCgactggttcaggccggtgac	18	7	1	3	rs147218489		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:36099531C>T	uc002hok.3	-	2	665	c.444G>A	c.(442-444)TCG>TCA	p.S148S	HNF1B_uc010wdi.1_Silent_p.S148S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	148			S -> W (in RCAD).|S -> L (in RCAD).		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			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGGAGAGGTGCGACTGGTTCA	0.567									Hereditary_Prostate_Cancer				T	36099531	C	T	36099531	2	4	270	1	0	0	0	0	0	0	0	1	7252	755	27	1		1	HNF1B	17	36099531	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1165120	36099531	45095679	1129	134629											
MLLT6	4302	broad.mit.edu	37	chr17	36872882	36872882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataagtctccccacgtcacGgggtctggggcctcggcagg	14	13	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:36872882G>A	uc002hqi.3	+	10	1312	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	433					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CCCACGTCACGGGGTCTGGGG	0.662			T	MLL	AL								A	36872882	G	A	36872882	2	1	270	1	0	0	0	0	0	0	0	1	9630	1103	39	1		1	MLLT6	17	36872882	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	773351	36872882	44322328	1130	134630											
KRT16	3868	broad.mit.edu	37	chr17	39767710	39767710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccggcgcaggccattgaCgtcggcctccacagtctgcc	11	18	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:39767710C>T	uc002hxg.3	-	3	797	c.658G>A	c.(658-660)GTC>ATC	p.V220I	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	220	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				AGGCCATTGACGTCGGCCTCC	0.627													T	39767710	C	T	39767710	3	4	270	1	0	0	0	0	1	0	0	0	8453	536	19	1	787	1	KRT16	17	39767710	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2894828	39767710	41427500	1131	134631											
KRT17	3872	broad.mit.edu	37	chr17	39777909	39777909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcttctcatactggtcaCgcatctcgttgaggatgcgg	10	12	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:39777909C>T	uc002hxh.2	-	4	891	c.770G>A	c.(769-771)CGT>CAT	p.R257H	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	257	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				ATACTGGTCACGCATCTCGTT	0.597									Steatocystoma_Multiplex				T	39777909	C	T	39777909	3	4	270	1	0	0	0	0	1	0	0	0	8454	536	19	1	548	1	KRT17	17	39777909	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	10199	39777909	41417301	1132	134632											
KAT2A	2648	broad.mit.edu	37	chr17	40272728	40272728	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgcctgccttacccaaGgggtgctcacaactgcggca	12	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:40272728G>T	uc002hyx.2	-	2	519	c.459C>A	c.(457-459)CCC>CCA	p.P153P	HSPB9_uc002hyy.2_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	153					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			upper_aerodigestive_tract(1)|lung(1)	2						CCTTACCCAAGGGGTGCTCAC	0.592													T	40272728	G	T	40272728	2	4	270	1	0	0	0	0	0	0	0	1	7981	987	35	5		5	KAT2A	17	40272728	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	494819	40272728	40922482	1133	134633											
BRCA1	672	broad.mit.edu	37	chr17	41244889	41244889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaaggacccagagtgggCagagaatgttgcacattcct	11	9	0	2	rs80357541		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:41244889C>T	uc002icq.2	-	10	2891	c.2659G>A	c.(2659-2661)GCC>ACC	p.A887T	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.A816T|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.A840T|BRCA1_uc002ict.2_Missense_Mutation_p.A887T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.A887T|BRCA1_uc002ide.1_Missense_Mutation_p.A718T|BRCA1_uc010cyy.1_Missense_Mutation_p.A887T|BRCA1_uc010whs.1_Missense_Mutation_p.A887T|BRCA1_uc010cyz.2_Missense_Mutation_p.A840T|BRCA1_uc010cza.2_Missense_Mutation_p.A861T|BRCA1_uc010wht.1_Missense_Mutation_p.A591T	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	887					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAGAGTGGGCAGAGAATGTT	0.393			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			T	41244889	C	T	41244889	3	4	270	1	0	0	0	0	1	0	0	0	1498	710	25	2	3058	2	BRCA1	17	41244889	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	972161	41244889	39950321	1134	134634											
ATXN7L3	56970	broad.mit.edu	37	chr17	42272803	42272803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtggttagcaggctgCgaagctcctccggccccagg	13	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:42272803C>T	uc002iga.2	-	8	696	c.605G>A	c.(604-606)CGC>CAC	p.R202H	ATXN7L3_uc010wiv.1_5'UTR|ATXN7L3_uc002ifz.2_Missense_Mutation_p.R209H	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	202	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				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCAGGCTGCGAAGCTCCTC	0.577													T	42272803	C	T	42272803	3	4	270	1	0	0	0	0	1	0	0	0	1218	768	27	1	458	1	ATXN7L3	17	42272803	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1027914	42272803	38922407	1135	134635											
C1QL1	10882	broad.mit.edu	37	chr17	43037709	43037709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcgtagttctggtccgcGtcctgggcaatagcactggc	13	11	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:43037709G>A	uc002ihv.2	-	2	852	c.624C>T	c.(622-624)GAC>GAT	p.D208D		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	208	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				TCTGGTCCGCGTCCTGGGCAA	0.483													A	43037709	G	A	43037709	2	1	270	1	0	0	0	0	0	0	0	1	1958	1136	40	1		1	C1QL1	17	43037709	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	764906	43037709	38157501	1136	134636											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531274	43531274	+	Frame_Shift_Del	DEL	G	G	-													aggcagccctggggcgcctcGgggggttcctcaggctggtc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:43531273_43531273CG>C	uc002ija.3	-	6	2115	c.1945_1945CG>G	c.(1945-1947)gagfs	p.E649fs	PLEKHM1_uc010wjm.2_Frame_Shift_Del_p.E621fs|PLEKHM1_uc002ijb.3_Frame_Shift_Del_p.E124fs|PLEKHM1_uc010wjn.1_Frame_Shift_Del_p.E598fs|PLEKHM1_uc002ijc.3_Frame_Shift_Del_p.E103fs	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	649					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)					TGGGGCGCCTCGGGGGGTTCC	0.692													-	43531274	G	-	43531274	7	5	270	1	0	1	0	1	0	0	0	0	12080	1103	39	0	1250	0	PLEKHM1	17	43531274	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	493565	43531274	37663936	1137	134637											
CRHR1	1394	broad.mit.edu	37	chr17	43907907	43907907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactccactgaccggctgcGcaaatggatgttcatctgca	9	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:43907907G>A	uc010dap.2	+	8	1032	c.767G>A	c.(766-768)CGC>CAC	p.R256H	CRHR1_uc010wjx.1_Missense_Mutation_p.R52H|CRHR1_uc002ijp.2_Missense_Mutation_p.R126H|CRHR1_uc002ijm.2_Missense_Mutation_p.R227H|CRHR1_uc002ijn.2_Missense_Mutation_p.R187H|CRHR1_uc010dar.2_Missense_Mutation_p.R227H|CRHR1_uc010dao.2_Missense_Mutation_p.R126H|CRHR1_uc010daq.2_Missense_Mutation_p.R52H	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	256	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCGGCTGCGCAAATGGATG	0.622													A	43907907	G	A	43907907	3	1	270	1	0	0	0	0	1	0	0	0	3871	1087	38	1	797	1	CRHR1	17	43907907	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	376633	43907907	37287303	1138	134638											
NFE2L1	4779	broad.mit.edu	37	chr17	46128959	46128960	+	Frame_Shift_Ins	INS	-	-	C													gaggatttgggggctgtagcINSccccccagtcagtggagact							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46128958_46128959G>GC	uc002imz.4	+	1	1129_1130	c.478_479G>GC	c.(478-480)gccfs	p.A160fs	NFE2L1_uc002ina.4_Frame_Shift_Ins_p.A160fs|NFE2L1_uc002inb.4_Frame_Shift_Ins_p.A160fs|NFE2L1_uc002inc.1_Frame_Shift_Ins_p.A160fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	160	Asp/Glu-rich (acidic).				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	p.V163fs*14(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGGCTGTAGCCCCCCCAGTC	0.589													C	46128960	-	C	46128959	7	5	270	1	0	1	1	0	0	0	0	0	10367	739	26	0	481	0	NFE2L1	17	46128959	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	2221052	46128959	35066251	1139	134639											
NFE2L1	4779	broad.mit.edu	37	chr17	46136685	46136685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcaagaacaagatggcGgcgcagaactgccgcaagcg	16	11	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46136685G>A	uc002imz.3	+	6	2652	c.2001G>A	c.(1999-2001)GCG>GCA	p.A667A	NFE2L1_uc002ina.3_Silent_p.A637A|NFE2L1_uc002inb.3_Silent_p.A637A|NFE2L1_uc010wle.1_Silent_p.A479A|NFE2L1_uc010wlf.1_Silent_p.A511A	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	667	Basic motif.				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			skin(1)	1						ACAAGATGGCGGCGCAGAACT	0.592													A	46136685	G	A	46136685	2	1	270	1	0	0	0	0	0	0	0	1	10367	1103	39	1		1	NFE2L1	17	46136685	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7726	46136685	35058525	1140	134640											
HOXB5	3215	broad.mit.edu	37	chr17	46670721	46670721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagagggcttggcgccGtggctgtcgccgttggtgca	18	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46670721G>A	uc002inr.2	-	1	383	c.324C>T	c.(322-324)CAC>CAT	p.H108H		NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	108						nucleus	sequence-specific DNA binding				0						GCTTGGCGCCGTGGCTGTCGC	0.701													A	46670721	G	A	46670721	2	1	270	1	0	0	0	0	0	0	0	1	7304	1136	40	1		1	HOXB5	17	46670721	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	534036	46670721	34524489	1141	134641											
HOXB6	3216	broad.mit.edu	37	chr17	46673804	46673804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtttttcttcctcctcctCggcactgagctgagacgcgc	9	15	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46673804C>T	uc002ins.1	-	4	971	c.646G>A	c.(646-648)GAG>AAG	p.E216K	HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Missense_Mutation_p.E216K|HOXB6_uc002int.1_3'UTR	NM_018952	NP_061825	P17509	HXB6_HUMAN	homeobox B6	216	Poly-Glu.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCCTCCTCCTCGGCACTGAGC	0.597													T	46673804	C	T	46673804	3	4	270	1	0	0	0	0	1	0	0	0	7305	893	31	1	32	1	HOXB6	17	46673804	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3083	46673804	34521406	1142	134642											
NGFR	4804	broad.mit.edu	37	chr17	47583740	47583740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggctccagagcatgtcGgcgccgtgcgtggaggccga	19	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:47583740G>A	uc002ioz.3	+	3	413	c.288G>A	c.(286-288)TCG>TCA	p.S96S		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	96	Extracellular (Potential).|TNFR-Cys 2.				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				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					AGAGCATGTCGGCGCCGTGCG	0.706													A	47583740	G	A	47583740	2	1	270	1	0	0	0	0	0	0	0	1	10396	1103	39	1		1	NGFR	17	47583740	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	909936	47583740	33611470	1143	134643											
EPN3	55040	broad.mit.edu	37	chr17	48613990	48613990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggcagaaatcaaggtgCgcgaggccaccagcaatgac	13	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:48613990C>T	uc002ira.3	+	2	508	c.73C>T	c.(73-75)CGC>TGC	p.R25C	EPN3_uc010wms.1_Intron|EPN3_uc010wmt.1_Intron|EPN3_uc010wmu.1_Missense_Mutation_p.R25C	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	25	ENTH.	Phosphatidylinositol lipid headgroup (By similarity).				clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AATCAAGGTGCGCGAGGCCAC	0.612													T	48613990	C	T	48613990	3	4	270	1	0	0	0	0	1	0	0	0	5187	768	27	1	75	1	EPN3	17	48613990	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1030250	48613990	32581220	1144	134644											
ABCC3	8714	broad.mit.edu	37	chr17	48742598	48742598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggccgtgaagatgcgcGccttccaggtaggtgctgtc	15	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:48742598G>A	uc002isl.2	+	11	1503	c.1423G>A	c.(1423-1425)GCC>ACC	p.A475T	ABCC3_uc002isk.3_Missense_Mutation_p.A475T	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	475	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAAGATGCGCGCCTTCCAGGT	0.622													A	48742598	G	A	48742598	3	1	270	1	0	0	0	0	1	0	0	0	54	1087	38	1	1465	1	ABCC3	17	48742598	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	128608	48742598	32452612	1145	134645											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	270	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	7692563	56435161	24760049	1146	134646											
MRC2	9902	broad.mit.edu	37	chr17	60768086	60768086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagctatgagggccagagtCggggcgcctggctgggcatg	19	9	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:60768086C>T	uc002jad.2	+	27	4378	c.3976C>T	c.(3976-3978)CGG>TGG	p.R1326W	MRC2_uc002jae.2_Missense_Mutation_p.R397W|MRC2_uc002jaf.2_Missense_Mutation_p.R192W	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1326	Extracellular (Potential).|C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGGCCAGAGTCGGGGCGCCTG	0.607													T	60768086	C	T	60768086	3	4	270	1	0	0	0	0	1	0	0	0	9758	875	31	1	4082	1	MRC2	17	60768086	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4332925	60768086	20427124	1147	134647											
MAP3K3	4215	broad.mit.edu	37	chr17	61744392	61744392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactatctaccagcccccCgagcccagaagcaggcacct	7	17	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:61744392C>T	uc002jbg.2	+	6	793	c.474C>T	c.(472-474)CCC>CCT	p.P158P	MAP3K3_uc002jbe.2_Silent_p.P189P|MAP3K3_uc002jbf.2_Silent_p.P189P|MAP3K3_uc002jbh.2_Silent_p.P189P|MAP3K3_uc010wpo.1_Silent_p.P73P|MAP3K3_uc010wpp.1_Silent_p.P158P	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	158					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			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						ACCAGCCCCCCGAGCCCAGAA	0.483													T	61744392	C	T	61744392	2	4	270	1	0	0	0	0	0	0	0	1	9251	639	23	1		1	MAP3K3	17	61744392	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	976306	61744392	19450818	1148	134648											
KPNA2	3838	broad.mit.edu	37	chr17	66033572	66033572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaagctcatttcctgaTgatgctacttctccgctgca	7	11	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:66033572T>C	uc002jgk.2	+	3	306	c.174T>C	c.(172-174)GAT>GAC	p.D58D	KPNA2_uc002jgl.2_Silent_p.D58D	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	58	IBB.				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			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATTTCCTGATGATGCTACTT	0.423													C	66033572	T	C	66033572	2	2	270	1	0	0	0	0	0	0	0	1	8430	1461	51	3		3	KPNA2	17	66033572	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4289180	66033572	15161638	1149	134649											
PRKAR1A	5573	broad.mit.edu	37	chr17	66511558	66511558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatggagtctggcagtacCgccgccagtgaggaggcacg	15	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:66511558C>T	uc002jhg.2	+	2	198	c.18C>T	c.(16-18)ACC>ACT	p.T6T	PRKAR1A_uc002jhh.2_Silent_p.T6T|PRKAR1A_uc002jhi.2_Silent_p.T6T|PRKAR1A_uc002jhj.2_Silent_p.T6T|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Silent_p.T6T|PRKAR1A_uc002jhm.2_Silent_p.T6T	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	6	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|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					CTGGCAGTACCGCCGCCAGTG	0.448			T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of				T	66511558	C	T	66511558	2	4	270	1	0	0	0	0	0	0	0	1	12503	639	23	1		1	PRKAR1A	17	66511558	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	477986	66511558	14683652	1150	134650											
KCNJ16	3773	broad.mit.edu	37	chr17	68128882	68128882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaggaacagttagagcCcaacttctccgctatacaga	9	10	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:68128882C>T	uc002jin.2	+	5	1140	c.654C>T	c.(652-654)GCC>GCT	p.A218A	KCNJ16_uc002jio.2_Silent_p.A218A|KCNJ16_uc002jip.2_Silent_p.A218A|KCNJ16_uc002jiq.2_Silent_p.A250A	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	218	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CAGTTAGAGCCCAACTTCTCC	0.473													T	68128882	C	T	68128882	2	4	270	1	0	0	0	0	0	0	0	1	8050	610	22	4		4	KCNJ16	17	68128882	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1617324	68128882	13066328	1151	134651											
HN1	51155	broad.mit.edu	37	chr17	73144758	73144758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatccaccacctggaggcCgcaaaactctgcaaataatg	9	12	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:73144758C>T	uc002jna.1	-	2	348	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	HN1_uc002jmz.1_5'UTR|HN1_uc002jnb.1_Missense_Mutation_p.R22Q|HN1_uc010dgc.1_RNA|HN1_uc002jnc.2_RNA|HN1_uc002jnd.2_Missense_Mutation_p.R22Q	NM_016185	NP_057269	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus					0	all_lung(278;0.14)|Lung NSC(278;0.168)					ACCTGGAGGCCGCAAAACTCT	0.388													T	73144758	C	T	73144758	3	4	270	1	0	0	0	0	1	0	0	0	7249	652	23	1	515	1	HN1	17	73144758	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5015876	73144758	8050452	1152	134652											
LLGL2	3993	broad.mit.edu	37	chr17	73565191	73565191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgcccagggcgaggaCgagtggcccccactccgcaa	13	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:73565191C>T	uc002joh.2	+	13	1609	c.1455C>T	c.(1453-1455)GAC>GAT	p.D485D	LLGL2_uc002joi.2_Silent_p.D485D|LLGL2_uc010dgg.1_Silent_p.D485D|LLGL2_uc002joj.2_Silent_p.D474D|LLGL2_uc010wsd.1_Silent_p.D112D	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	485					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	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)			AGGGCGAGGACGAGTGGCCCC	0.677													T	73565191	C	T	73565191	2	4	270	1	0	0	0	0	0	0	0	1	8834	535	19	1		1	LLGL2	17	73565191	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	420433	73565191	7630019	1153	134653											
ACOX1	51	broad.mit.edu	37	chr17	73945316	73945316	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaaggaaatcccccgcGttctgactgattccatacag	8	13	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:73945316G>A	uc002jqf.2	-	12	2000	c.1710C>T	c.(1708-1710)AAC>AAT	p.N570N	ACOX1_uc010wsq.1_Silent_p.N532N|ACOX1_uc002jqe.2_Silent_p.N570N|ACOX1_uc010wsr.1_Silent_p.N502N	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	570					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			ovary(1)	1						AATCCCCCGCGTTCTGACTGA	0.299													A	73945316	G	A	73945316	2	1	270	1	0	0	0	0	0	0	0	1	158	1136	40	1		1	ACOX1	17	73945316	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	380125	73945316	7249894	1154	134654											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74562348	74562348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgatgaatccataggcActgacctgggcaaggatagt	12	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:74562348A>G	uc002jsg.3	-	9	1218	c.963T>C	c.(961-963)AGT>AGC	p.S321S		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	sialyltransferase 7B	321	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity				0						ATCCATAGGCACTGACCTGGG	0.433													G	74562348	A	G	74562348	2	3	270	1	0	0	0	0	0	0	0	1	15223	156	6	3		3	ST6GALNAC2	17	74562348	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	617032	74562348	6632862	1155	134655											
TBC1D16	125058	broad.mit.edu	37	chr17	77926601	77926601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggaaccgcaggccggcgtCggagctggacggggggctgg	22	11	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:77926601C>T	uc002jxj.2	-	4	912	c.796G>A	c.(796-798)GAC>AAC	p.D266N	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	266						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGGCCGGCGTCGGAGCTGGAC	0.672													T	77926601	C	T	77926601	3	4	270	1	0	0	0	0	1	0	0	0	15602	884	31	1	1543	1	TBC1D16	17	77926601	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3364253	77926601	3268609	1156	134656											
RPTOR	57521	broad.mit.edu	37	chr17	78865536	78865536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagctggtggtggctcTgagtcatcttgtggttcagt	16	7	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:78865536T>C	uc002jyt.1	+	18	2805	c.2000T>C	c.(1999-2001)CTG>CCG	p.L667P	RPTOR_uc010wug.1_Missense_Mutation_p.L509P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	667					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			lung(4)|urinary_tract(1)|ovary(1)	6						GTGGTGGCTCTGAGTCATCTT	0.512													C	78865536	T	C	78865536	3	2	270	1	0	0	0	0	1	0	0	0	13665	1580	55	3	2070	3	RPTOR	17	78865536	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	938935	78865536	2329674	1157	134657											
CHMP6	79643	broad.mit.edu	37	chr17	78971112	78971112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaggatgaagacgccAtcctggaggagctgagcgca	15	10	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:78971112A>G	uc002jyw.3	+	6	544	c.466A>G	c.(466-468)ATC>GTC	p.I156V		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	156					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGAAGACGCCATCCTGGAGGA	0.632													G	78971112	A	G	78971112	3	3	270	1	0	0	0	0	1	0	0	0	3360	217	8	3	488	3	CHMP6	17	78971112	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	105576	78971112	2224098	1158	134658											
CCDC137	339230	broad.mit.edu	37	chr17	79637353	79637353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaagggggagtctgacGgggcctatatccaccgcatg	16	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:79637353G>A	uc002kbc.3	+	3	403	c.367G>A	c.(367-369)GGG>AGG	p.G123R	CCDC137_uc002kbd.2_RNA	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	123										central_nervous_system(1)	1	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)			GGAGTCTGACGGGGCCTATAT	0.587													A	79637353	G	A	79637353	3	1	270	1	0	0	0	0	1	0	0	0	2771	1116	39	1	377	1	CCDC137	17	79637353	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	666241	79637353	1557857	1159	134659											
DYSFIP1	116729	broad.mit.edu	37	chr17	79792774	79792774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcgatcagccagcatcCgccgccgccgctgccgtggg	14	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:79792774C>T	uc002kbj.1	-	1	153	c.56G>A	c.(55-57)CGG>CAG	p.R19Q	FAM195B_uc010wuy.1_5'Flank|FAM195B_uc010wuz.1_5'Flank|FAM195B_uc002kjd.2_5'Flank|DYSFIP1_uc002kbk.1_Missense_Mutation_p.R19Q	NM_001007533	NP_001007534	Q86WC6	DYSI1_HUMAN	dysferlin-interacting protein 1	19	Poly-Arg.										0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.00858)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGCCAGCATCCGCCGCCGCCG	0.652													T	79792774	C	T	79792774	3	4	270	1	0	0	0	0	1	0	0	0	4860	652	23	1	420	1	DYSFIP1	17	79792774	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	155421	79792774	1402436	1160	134660											
EPB41L3	23136	broad.mit.edu	37	chr18	5419778	5419778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccgtttgtcctcttcctCgtcccgctcctcctcagcct	5	21	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:5419778C>T	uc002kmt.1	-	12	1524	c.1438G>A	c.(1438-1440)GAG>AAG	p.E480K	EPB41L3_uc010wzh.1_Missense_Mutation_p.E498K|EPB41L3_uc002kmu.1_Missense_Mutation_p.E498K|EPB41L3_uc010dkq.1_Missense_Mutation_p.E389K|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.E59K	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	480	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						tcctcttcctcgtcccgctcc	0.388													T	5419778	C	T	5419778	3	4	270	1	0	0	0	0	1	0	0	0	5154	893	31	1	1869	1	EPB41L3	18	5419778	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		5419778	72657470	1161	134661											
EPB41L3	23136	broad.mit.edu	37	chr18	5433504	5433504	+	Frame_Shift_Del	DEL	T	T	-													tctaccccatacattgataaTtttttggcattttccaagaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:5433503_5433503AT>A	uc002kmt.1	-	7	963	c.877_877AT>T	c.(877-879)ttafs	p.L293fs	EPB41L3_uc010wzh.1_Frame_Shift_Del_p.L293fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.L293fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.L184fs|EPB41L3_uc010dks.1_Frame_Shift_Del_p.L315fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	293	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.K292E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TACATTGATAATTTTTTGGCA	0.338													-	5433504	T	-	5433504	7	5	270	1	0	1	0	1	0	0	0	0	5154	1490	52	0	2447	0	EPB41L3	18	5433504	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	13726	5433504	72643744	1162	134662											
TMEM200C	645369	broad.mit.edu	37	chr18	5891517	5891517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggaggaccgcgtttgcGcagatgaagaggaagatgcc	16	8	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:5891517G>A	uc002kmx.1	-	1	587	c.546C>T	c.(544-546)TGC>TGT	p.C182C		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	182	Helical; (Potential).					integral to membrane					0						CCGCGTTTGCGCAGATGAAGA	0.577													A	5891517	G	A	5891517	2	1	270	1	0	0	0	0	0	0	0	1	16122	1079	38	1		1	TMEM200C	18	5891517	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	458013	5891517	72185731	1163	134663											
KIAA0802	23255	broad.mit.edu	37	chr18	8825914	8825914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgcgggccggcagtcGgtctcgctcagcagagcccc	17	15	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:8825914G>A	uc002knr.2	+	15	4548	c.4406G>A	c.(4405-4407)CGG>CAG	p.R1469Q	KIAA0802_uc002knq.2_Missense_Mutation_p.R1428Q|KIAA0802_uc002kns.2_Missense_Mutation_p.R809Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1779											0						GCCGGCAGTCGGTCTCGCTCA	0.637													A	8825914	G	A	8825914	3	1	270	1	0	0	0	0	1	0	0	0	8194	1116	39	1	4456	1	KIAA0802	18	8825914	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2934397	8825914	69251334	1164	134664											
OSBPL1A	114876	broad.mit.edu	37	chr18	21759794	21759794	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatacagcaaacgcagcTacacactgtgggacagagca	11	11	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:21759794T>G	uc002kve.2	-	20	1992	c.1818A>C	c.(1816-1818)GTA>GTC	p.V606V	OSBPL1A_uc002kvd.2_Silent_p.V93V|OSBPL1A_uc010xbc.1_Silent_p.V224V	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	606					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	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)					CAAACGCAGCTACACACTGTG	0.468													G	21759794	T	G	21759794	2	3	270	1	0	0	0	0	0	0	0	1	11277	1509	53	5		5	OSBPL1A	18	21759794	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	12933880	21759794	56317454	1165	134665											
TAF4B	6875	broad.mit.edu	37	chr18	23866046	23866046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagcacccagaactgtGtcagtgcaaactttgaaccc	8	13	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:23866046G>A	uc002kvu.3	+	7	1662	c.1173G>A	c.(1171-1173)GTG>GTA	p.V391V	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.V391V	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	391					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			lung(1)|central_nervous_system(1)|skin(1)	3	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)			CCAGAACTGTGTCAGTGCAAA	0.478													A	23866046	G	A	23866046	2	1	270	1	0	0	0	0	0	0	0	1	15524	1364	48	4		4	TAF4B	18	23866046	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2106252	23866046	54211202	1166	134666											
FAM59A	64762	broad.mit.edu	37	chr18	29867794	29867794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcgtatgggtttctcgGtggagggcttggcacagtca	17	7	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:29867794G>A	uc002kxl.2	-	4	822	c.766C>T	c.(766-768)CCG>TCG	p.P256S	FAM59A_uc002kxk.1_Missense_Mutation_p.P256S	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	256	CABIT.									ovary(1)|skin(1)	2						GGGTTTCTCGGTGGAGGGCTT	0.537													A	29867794	G	A	29867794	3	1	270	1	0	0	0	0	1	0	0	0	5592	1261	44	4	1873	4	FAM59A	18	29867794	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	6001748	29867794	48209454	1167	134667											
SETBP1	26040	broad.mit.edu	37	chr18	42643610	42643610	+	Frame_Shift_Del	DEL	A	A	-													ttccccaggaagaggaggtgAaagccaaaaggcagaggaag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:42643610delA	uc010dni.2	+	6	5034	c.4738delA	c.(4738-4740)AAAfs	p.K1580fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1580						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAGGAGGTGAAAGCCAAAAG	0.667									Schinzel-Giedion_syndrome				-	42643610	A	-	42643610	7	5	270	1	0	1	0	1	0	0	0	0	14129	247	9	0	4949	0	SETBP1	18	42643610	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	12775816	42643610	35433638	1168	134668											
ALPK2	115701	broad.mit.edu	37	chr18	56149219	56149219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgttacactggtgtagtgCtttaaactgatcaatgaagg	10	6	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:56149219C>A	uc002lhj.3	-	13	6563	c.6349G>T	c.(6349-6351)GCA>TCA	p.A2117S		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2117	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TGGTGTAGTGCTTTAAACTGA	0.408													A	56149219	C	A	56149219	3	1	270	1	0	0	0	0	1	0	0	0	545	797	28	5	167	5	ALPK2	18	56149219	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	13505609	56149219	21928029	1169	134669											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	270	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	864066	57013285	21063963	1170	134670											
SERPINB12	89777	broad.mit.edu	37	chr18	61228376	61228376	+	Frame_Shift_Del	DEL	A	A	-													gattgaaagtgttgatttccAaaaaaaccctgaaaaatcca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:61228375_61228375CA>C	uc010xeo.2	+	3	502	c.502_502CA>C	c.(502-504)caafs	p.Q168fs	SERPINB12_uc010xen.2_Frame_Shift_Del_p.Q148fs	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	148					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Q167K(1)|p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCC	0.388													-	61228376	A	-	61228376	7	5	270	1	0	1	0	1	0	0	0	0	14099	130	5	0	457	0	SERPINB12	18	61228376	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	4215091	61228376	16848872	1171	134671											
NETO1	81832	broad.mit.edu	37	chr18	70534535	70534535	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatggatcatgtctgtgcGttacaccagaggctccgggc	12	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:70534535G>A	uc002lkw.2	-	1	276	c.-8C>T	c.(-10--6)AACGC>AATGC		NETO1_uc002lkx.1_5'Flank|NETO1_uc002lky.1_Translation_Start_Site|NETO1_uc002lkz.2_5'Flank	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3						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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGTCTGTGCGTTACACCAGA	0.642													A	70534535	G	A	70534535	1	1	270	1	0	0	0	0	0	0	0	0	10339	1160	40	1		1	NETO1	18	70534535	Translation_Start_Site	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	9306159	70534535	7542713	1172	134672											
ZNF516	9658	broad.mit.edu	37	chr18	74153912	74153912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccctcctcggccggggCgcgcgtgcggctggcctcga	16	19	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:74153912C>T	uc010dqx.1	-	2	1334	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCGGCCGGGGCGCGCGTGCGG	0.682													T	74153912	C	T	74153912	3	4	270	1	0	0	0	0	1	0	0	0	17957	768	27	1	2413	1	ZNF516	18	74153912	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3619377	74153912	3923336	1173	134673											
SALL3	27164	broad.mit.edu	37	chr18	76754898	76754898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctgctgttcctgagcagGgagcggggtaagtgtcccag	16	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:76754898G>T	uc002lmt.2	+	2	2907	c.2907G>T	c.(2905-2907)AGG>AGT	p.R969S	SALL3_uc010dra.2_Missense_Mutation_p.R576S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		TCCTGAGCAGGGAGCGGGGTA	0.468													T	76754898	G	T	76754898	3	4	270	1	0	0	0	0	1	0	0	0	13812	1223	43	5	2913	5	SALL3	18	76754898	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2600986	76754898	1322350	1174	134674											
KCNG2	26251	broad.mit.edu	37	chr18	77623823	77623823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgcctgccgcggccaCgacgacctgctgcgcgtgtg	15	17	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:77623823C>T	uc010xfl.1	+	1	156	c.156C>T	c.(154-156)CAC>CAT	p.H52H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	52	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCCGCGGCCACGACGACCTGC	0.721													T	77623823	C	T	77623823	2	4	270	1	0	0	0	0	0	0	0	1	8028	535	19	1		1	KCNG2	18	77623823	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	868925	77623823	453425	1175	134675											
POLRMT	5442	broad.mit.edu	37	chr19	629547	629547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcactcacctgccgcGcccagccaagcatcacggcg	11	19	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:629547G>A	uc002lpf.1	-	3	871	c.815C>T	c.(814-816)GCG>GTG	p.A272V		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	272					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		CACCTGCCGCGCCCAGCCAAG	0.647													A	629547	G	A	629547	3	1	270	1	0	0	0	0	1	0	0	0	12238	1087	38	1	2953	1	POLRMT	19	629547	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08		629547	58499436	1176	134676											
FGF22	27006	broad.mit.edu	37	chr19	643437	643437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccgtggactgcaggttcCgggagcgcatcgaagagaac	14	11	0	1	rs141882459		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:643437C>T	uc010xfq.1	+	3	346	c.346C>T	c.(346-348)CGG>TGG	p.R116W	FGF22_uc010xfr.1_Missense_Mutation_p.P108L	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22 precursor	116					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity				0		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)		CTGCAGGTTCCGGGAGCGCAT	0.697													T	643437	C	T	643437	3	4	270	1	0	0	0	0	1	0	0	0	5851	643	23	1	356	1	FGF22	19	643437	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	13890	643437	58485546	1177	134677											
ARID3A	1820	broad.mit.edu	37	chr19	966745	966745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagctggagtctgcagagCctccggagaagaagatggcc	15	9	1	5			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:966745C>A	uc002lql.2	+	7	1662	c.1372C>A	c.(1372-1374)CCT>ACT	p.P458T		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	458	Important for nuclear localization (By similarity).|REKLES.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		GTCTGCAGAGCCTCCGGAGAA	0.652													A	966745	C	A	966745	3	1	270	1	0	0	0	0	1	0	0	0	916	739	26	5	1394	5	ARID3A	19	966745	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	323308	966745	58162238	1178	134678											
SBNO2	22904	broad.mit.edu	37	chr19	1147381	1147381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagctggtgtctgggcagGgctggctgccgaggaaggag	19	8	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1147381G>T	uc002lrk.3	-	4	444	c.206C>A	c.(205-207)CCC>CAC	p.P69H	SBNO2_uc010dse.2_Missense_Mutation_p.P62H	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	69					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		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)		GTCTGGGCAGGGCTGGCTGCC	0.667													T	1147381	G	T	1147381	3	4	270	1	0	0	0	0	1	0	0	0	13863	1232	43	5	4122	5	SBNO2	19	1147381	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	180636	1147381	57981602	1179	134679											
ATP8B3	148229	broad.mit.edu	37	chr19	1796868	1796868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcgaacttgttccagaggTaggggttctcctgggggtgg	18	8	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1796868T>C	uc002ltw.2	-	16	1829	c.1595A>G	c.(1594-1596)TAC>TGC	p.Y532C	ATP8B3_uc002ltv.2_Missense_Mutation_p.Y485C|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	532	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		GTTCCAGAGGTAGGGGTTCTC	0.721													C	1796868	T	C	1796868	3	2	270	1	0	0	0	0	1	0	0	0	1196	1638	57	3	2393	3	ATP8B3	19	1796868	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	649487	1796868	57332115	1180	134680											
CSNK1G2	1455	broad.mit.edu	37	chr19	1969862	1969862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggagcagccacggcatcCggagctcggggaccagctcg	16	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1969862C>T	uc002lul.3	+	3	614	c.91C>T	c.(91-93)CGG>TGG	p.R31W	CSNK1G2_uc010dsu.2_5'UTR	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	31					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		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)		CCACGGCATCCGGAGCTCGGG	0.642													T	1969862	C	T	1969862	3	4	270	1	0	0	0	0	1	0	0	0	3955	643	23	1	93	1	CSNK1G2	19	1969862	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	172994	1969862	57159121	1181	134681											
CSNK1G2	1455	broad.mit.edu	37	chr19	1979021	1979021	+	Missense_Mutation	SNP	T	T	C													ccccgagaccaagaagcacaTcccgtaccgcgagcacaaga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1979021T>C	uc002lul.3	+	7	1134	c.611T>C	c.(610-612)ATC>ACC	p.I204T	CSNK1G2_uc010dsu.2_Missense_Mutation_p.I156T	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	204	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		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)		AAGAAGCACATCCCGTACCGC	0.567													C	1979021	T	C	1979021	3	2	270	1	0	0	0	0	1	0	0	0	3955	1435	50	3	629	3	CSNK1G2	19	1979021	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	9159	1979021	57149962	1182	134682	694	2									
CSNK1G2	1455	broad.mit.edu	37	chr19	1979024	1979024	+	Missense_Mutation	SNP	C	C	T													cgagaccaagaagcacatccCgtaccgcgagcacaagagcc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1979024C>T	uc002lul.3	+	7	1137	c.614C>T	c.(613-615)CCG>CTG	p.P205L	CSNK1G2_uc010dsu.2_Missense_Mutation_p.P157L	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	205	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		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)		AAGCACATCCCGTACCGCGAG	0.562													T	1979024	C	T	1979024	3	4	270	1	0	0	0	0	1	0	0	0	3955	652	23	1	632	1	CSNK1G2	19	1979024	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3	1979024	57149959	1183	134683	694	2									
AP3D1	8943	broad.mit.edu	37	chr19	2132534	2132534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgaagcaggacagacccGtcagtgcaacacctgtgtcg	12	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:2132534G>A	uc002luz.2	-	5	621	c.398C>T	c.(397-399)ACG>ATG	p.T133M	AP3D1_uc002luy.2_Missense_Mutation_p.T133M|AP3D1_uc002lva.2_Missense_Mutation_p.T133M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	133					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				0		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)		GGACAGACCCGTCAGTGCAAC	0.597													A	2132534	G	A	2132534	3	1	270	1	0	0	0	0	1	0	0	0	746	1145	40	1	3325	1	AP3D1	19	2132534	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	153510	2132534	56996449	1184	134684											
AMH	268	broad.mit.edu	37	chr19	2249534	2249534	+	Frame_Shift_Del	DEL	C	C	-													ggacagcaatggcagcagctCccccctgcgggtggtggggg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:2249534delC	uc002lvh.2	+	1	422	c.203delC	c.(202-204)TCCfs	p.S68fs	hsa-mir-4321|MI0015852_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone precursor	68					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity				0		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)		GGCAGCAGCTCCCCCCTGCGG	0.692									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				-	2249534	C	-	2249534	7	5	270	1	0	1	0	1	0	0	0	0	572	855	30	0	205	0	AMH	19	2249534	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	117000	2249534	56879449	1185	134685											
TLE2	7089	broad.mit.edu	37	chr19	3028733	3028735	+	In_Frame_Del	DEL	TTC	TTC	-													tgagcctgaagaaactggaaTtcttctttgatgcggtcgca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:3028732_3028734ATTC>A	uc010dth.3	-	1	355_357	c.92_94GAAT>T	c.(91-96)gaattc>gTtc	p.31_32EF>V	TLE2_uc002lww.3_In_Frame_Del_p.31_32EF>V|TLE2_uc010xhc.2_5'UTR|TLE2_uc010dti.3_In_Frame_Del_p.44_45EF>V|TLE2_uc010xhd.1_In_Frame_Del_p.31_32EF>V	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	31	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACTGGAATTCTTCTTTGAT	0.655													-	3028735	TTC	-	3028733	7	5	270	1	0	1	0	1	0	0	0	0	15936	1490	52	0	2217	0	TLE2	19	3028733	In_Frame_Del	DEL	TTC	TCGA-HU-A4GN-01A-11D-A25D-08	779199	3028733	56100250	1186	134686											
ZFR2	23217	broad.mit.edu	37	chr19	3819148	3819148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacacggccctctgcacgGccaggagctcctgctccgtg	14	16	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:3819148G>A	uc002lyw.2	-	12	1838	c.1826C>T	c.(1825-1827)GCC>GTC	p.A609V		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	609						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCTCTGCACGGCCAGGAGCTC	0.716													A	3819148	G	A	3819148	3	1	270	1	0	0	0	0	1	0	0	0	17657	1203	42	2	1025	2	ZFR2	19	3819148	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	790415	3819148	55309835	1187	134687											
MAP2K2	5605	broad.mit.edu	37	chr19	4099243	4099243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgaggcgagatgctgTgaggctctccttcttccccg	13	14	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4099243T>C	uc002lzk.2	-	7	1129	c.875A>G	c.(874-876)CAC>CGC	p.H292R	MAP2K2_uc002lzj.2_Missense_Mutation_p.H102R	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	292	Protein kinase.|Pro-rich.				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				0		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)		CGAGATGCTGTGAGGCTCTCC	0.711									Cardiofaciocutaneous_syndrome				C	4099243	T	C	4099243	3	2	270	1	0	0	0	0	1	0	0	0	9237	1696	59	3	347	3	MAP2K2	19	4099243	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	280095	4099243	55029740	1188	134688											
CHAF1A	10036	broad.mit.edu	37	chr19	4409665	4409665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattcgtccctgagctctcCctcttccaccagctcgcccg	6	21	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4409665C>T	uc002mal.2	+	3	969	c.869C>T	c.(868-870)CCC>CTC	p.P290L		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	290	Binds to CBX1 chromo shadow domain.				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			ovary(1)|skin(1)	2		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)		CTGAGCTCTCCCTCTTCCACC	0.617								Chromatin_Structure					T	4409665	C	T	4409665	3	4	270	1	0	0	0	0	1	0	0	0	3311	623	22	4	879	4	CHAF1A	19	4409665	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	310422	4409665	54719318	1189	134689											
UBXN6	80700	broad.mit.edu	37	chr19	4446179	4446179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccgcccccagccgctccCgagcgtagaaagtgcctggg	12	17	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4446179C>T	uc002man.1	-	10	1163	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	UBXN6_uc010dty.1_Missense_Mutation_p.R260Q|UBXN6_uc002mam.1_Missense_Mutation_p.R303Q	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	356	UBX.					microtubule organizing center|nucleus	protein binding				0						CAGCCGCTCCCGAGCGTAGAA	0.706													T	4446179	C	T	4446179	3	4	270	1	0	0	0	0	1	0	0	0	16914	652	23	1	266	1	UBXN6	19	4446179	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	36514	4446179	54682804	1190	134690											
DPP9	91039	broad.mit.edu	37	chr19	4690888	4690888	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcaaggagaccctggtAccttggagccgtgcctcgcc	14	14	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4690888A>G	uc002mba.2	-	14	1854	c.1596_splice	c.e14+1	p.K532_splice		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9						proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGACCCTGGTACCTTGGAGCC	0.373													G	4690888	A	G	4690888	5	3	270	1	0	0	0	0	0	0	1	0	4733	405	14	3	1116	3	DPP9	19	4690888	Splice_Site	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	244709	4690888	54438095	1191	134691											
UHRF1	29128	broad.mit.edu	37	chr19	4944449	4944449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtgggcaccatgtggcGgttccgagtccaggtacctg	14	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4944449G>A	uc002mbo.2	+	9	1460	c.1292G>A	c.(1291-1293)CGG>CAG	p.R431Q	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.R444Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	431	YDG.|Methyl-CpG binding and interaction with HDAC1.				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			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACCATGTGGCGGTTCCGAGTC	0.667													A	4944449	G	A	4944449	3	1	270	1	0	0	0	0	1	0	0	0	16964	1116	39	1	1361	1	UHRF1	19	4944449	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	253561	4944449	54184534	1192	134692											
KDM4B	23030	broad.mit.edu	37	chr19	5144079	5144079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacgtgacctgcgcccaCgccgcaggcgtgctcatgga	12	16	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5144079C>T	uc002mbq.3	+	19	2878	c.2652C>T	c.(2650-2652)CAC>CAT	p.H884H	KDM4B_uc010xim.1_Silent_p.H918H|KDM4B_uc002mbr.3_Silent_p.H642H	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	884	PHD-type 2.				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			lung(1)	1						CCTGCGCCCACGCCGCAGGCG	0.632													T	5144079	C	T	5144079	2	4	270	1	0	0	0	0	0	0	0	1	8129	535	19	1		1	KDM4B	19	5144079	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	199630	5144079	53984904	1193	134693											
ZNRF4	148066	broad.mit.edu	37	chr19	5456241	5456241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccaccgtgccacgacctgGgctgtcaccccgtgctgacc	10	19	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5456241G>T	uc002mca.3	+	1	816	c.739G>T	c.(739-741)GGC>TGC	p.G247C		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	247	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCACGACCTGGGCTGTCACCC	0.682													T	5456241	G	T	5456241	3	4	270	1	0	0	0	0	1	0	0	0	18211	1232	43	5	741	5	ZNRF4	19	5456241	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	312162	5456241	53672742	1194	134694											
SAFB2	9667	broad.mit.edu	37	chr19	5595419	5595420	+	Frame_Shift_Del	DEL	CT	CT	-													cgttcccgctgcctctggcgCtctctctccctttgttcttt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5595418_5595419GCT>G	uc002mcd.3	-	13	2084_2085	c.1872_1873AGC>C	c.(1870-1875)gagcgcfs	p.E624fs		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	624	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein 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)		TGCCTCTGGCGCTCTCTCTCCC	0.545													-	5595420	CT	-	5595419	7	5	270	1	0	1	0	1	0	0	0	0	13807	796	28	0	1021	0	SAFB2	19	5595419	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GN-01A-11D-A25D-08	139178	5595419	53533564	1195	134695											
HSD11B1L	374875	broad.mit.edu	37	chr19	5687962	5687962	+	Frame_Shift_Del	DEL	G	G	-													gccgcggcagcctgagcaccGgggggtgcccctccagtccc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5687962delG	uc002mck.2	+	8	954	c.704delG	c.(703-705)CGGfs	p.R235fs	HSD11B1L_uc002mcu.2_3'UTR|HSD11B1L_uc002mcl.2_Frame_Shift_Del_p.R154fs|HSD11B1L_uc002mcm.2_3'UTR|HSD11B1L_uc002mcq.2_Frame_Shift_Del_p.R101fs|HSD11B1L_uc002mcr.2_3'UTR|HSD11B1L_uc002mcs.2_3'UTR|HSD11B1L_uc010dug.2_3'UTR|HSD11B1L_uc002mct.2_3'UTR|HSD11B1L_uc002mco.2_3'UTR|HSD11B1L_uc002mcn.2_3'UTR|HSD11B1L_uc002mcp.2_3'UTR|RPL36_uc002mcv.2_5'Flank|RPL36_uc002mcw.2_5'Flank	NM_198533	NP_940935	Q7Z5J1	DHI1L_HUMAN	short-chain dehydrogenase/reductase 10 isoform	235						extracellular region	binding|oxidoreductase activity				0						CCTGAGCACCGGGGGGTGCCC	0.682													-	5687962	G	-	5687962	7	5	270	1	0	1	0	1	0	0	0	0	7376	1116	39	0	893	0	HSD11B1L	19	5687962	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	92543	5687962	53441021	1196	134696											
PRR22	163154	broad.mit.edu	37	chr19	5784080	5784080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacctgtgggcggcaggcGggtgccctgagagcagctgc	18	11	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5784080G>A	uc002mdb.1	-	1	531	c.172C>T	c.(172-174)CGC>TGC	p.R58C	PRR22_uc010xiv.1_Intron	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	58											0						GGCGGCAGGCGGGTGCCCTGA	0.672													A	5784080	G	A	5784080	3	1	270	1	0	0	0	0	1	0	0	0	12593	1131	39	1		1	PRR22	19	5784080	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	96118	5784080	53344903	1197	134697											
FUT6	2528	broad.mit.edu	37	chr19	5832408	5832408	+	Frame_Shift_Del	DEL	G	G	-													atcagggggatggagtgggcGggggtccctgtgctgtctgg					rs112849079		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5832407_5832407CG>C	uc002mdf.1	-	3	698	c.172_172CG>G	c.(172-174)gccfs	p.A58fs	FUT6_uc021unl.1_Frame_Shift_Del_p.A58fs|FUT6_uc002mdg.1_Frame_Shift_Del_p.A58fs|FUT6_uc002mdh.1_Frame_Shift_Del_p.A58fs|FUT6_uc021unm.1_Frame_Shift_Del_p.A58fs	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	58					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						ATGGAGTGGGCGGGGGTCCCT	0.587													-	5832408	G	-	5832408	7	5	270	1	0	1	0	1	0	0	0	0	6108	1103	39	0	912	0	FUT6	19	5832408	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	48328	5832408	53296575	1198	134698											
GTF2F1	2962	broad.mit.edu	37	chr19	6380339	6380339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgttgatcatcttgcgctCggggttgagtcgcttgagga	15	8	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:6380339C>T	uc002meq.2	-	13	1792	c.1507G>A	c.(1507-1509)GAG>AAG	p.E503K	GTF2F1_uc010xjb.1_Missense_Mutation_p.E324K|GTF2F1_uc010xjc.1_Missense_Mutation_p.E418K	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	503					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				0						ATCTTGCGCTCGGGGTTGAGT	0.542													T	6380339	C	T	6380339	3	4	270	1	0	0	0	0	1	0	0	0	6858	893	31	1	50	1	GTF2F1	19	6380339	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	547931	6380339	52748644	1199	134699											
SNAPC2	6618	broad.mit.edu	37	chr19	7987602	7987602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcccctgaacccgttcCtggtgcccctggagcttctg	10	16	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:7987602C>A	uc002miw.1	+	5	981	c.958C>A	c.(958-960)CTG>ATG	p.L320M	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	320					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						GAACCCGTTCCTGGTGCCCCT	0.692													A	7987602	C	A	7987602	3	1	270	1	0	0	0	0	1	0	0	0	14835	680	24	5	976	5	SNAPC2	19	7987602	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1607263	7987602	51141381	1200	134700											
CD320	51293	broad.mit.edu	37	chr19	8367418	8367418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagtaaccccagtgggcGgaggcgctcctgggctcgga	15	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:8367418G>A	uc002mjj.1	-	5	843	c.778C>T	c.(778-780)CGC>TGC	p.R260C	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.R218C	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	260	Cytoplasmic (Potential).				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						CCCAGTGGGCGGAGGCGCTCC	0.617													A	8367418	G	A	8367418	3	1	270	1	0	0	0	0	1	0	0	0	3004	1116	39	1	74	1	CD320	19	8367418	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	379816	8367418	50761565	1201	134701											
ACTL9	284382	broad.mit.edu	37	chr19	8808575	8808575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacctccactagcttctcGcggttggtggccgggctgaa	13	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:8808575G>A	uc002mkl.2	-	1	598	c.477C>T	c.(475-477)CGC>CGT	p.R159R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	159						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CTAGCTTCTCGCGGTTGGTGG	0.667													A	8808575	G	A	8808575	2	1	270	1	0	0	0	0	0	0	0	1	203	1074	38	1		1	ACTL9	19	8808575	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	441157	8808575	50320408	1202	134702											
MUC16	94025	broad.mit.edu	37	chr19	8999422	8999422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagactgtccctgtccagggTgtaggggcccagctcagtga	15	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:8999422T>C	uc002mkp.2	-	56	40957	c.40753A>G	c.(40753-40755)ACC>GCC	p.T13585A	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T402A|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTCCAGGGTGTAGGGGCCC	0.572													C	8999422	T	C	8999422	3	2	270	1	0	0	0	0	1	0	0	0	9973	1696	59	3	2886	3	MUC16	19	8999422	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	190847	8999422	50129561	1203	134703											
MUC16	94025	broad.mit.edu	37	chr19	9049103	9049103	+	Frame_Shift_Del	DEL	A	A	-													tggtgtctgatttactatggAaaaaaatggaagttgtccag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:9049102_9049102GA>G	uc002mkp.3	-	4	32733	c.32529_32529TC>C	c.(32527-32529)ttcfs	p.F10843fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10845	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						ATTTACTATGGAAAAAAATGG	0.488													-	9049103	A	-	9049103	7	5	270	1	0	1	0	1	0	0	0	0	9973	246	9	0	11315	0	MUC16	19	9049103	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	49681	9049103	50079880	1204	134704											
MUC16	94025	broad.mit.edu	37	chr19	9062137	9062137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accactgggcacttcagaaaGgacagtgcttccctctgtgg	11	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:9062137G>A	uc002mkp.2	-	3	25513	c.25309C>T	c.(25309-25311)CTT>TTT	p.L8437F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8439	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTTCAGAAAGGACAGTGCTT	0.522													A	9062137	G	A	9062137	3	1	270	1	0	0	0	0	1	0	0	0	9973	1000	35	4	18542	4	MUC16	19	9062137	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	13034	9062137	50066846	1205	134705											
ZNF562	54811	broad.mit.edu	37	chr19	9763880	9763880	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattccttacattcatagggTtttattccagtgtgagttct	7	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:9763880T>C	uc010xks.1	-	6	1189	c.1026A>G	c.(1024-1026)AAA>AAG	p.K342K	ZNF562_uc002mly.2_Silent_p.K342K|ZNF562_uc002mlx.2_Silent_p.K270K|ZNF562_uc010xkt.1_Silent_p.K305K|ZNF562_uc010xku.1_Silent_p.K273K|ZNF562_uc010xkv.1_Silent_p.K341K|ZNF562_uc010xkw.1_Silent_p.K226K	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTCATAGGGTTTTATTCCAG	0.428													C	9763880	T	C	9763880	2	2	270	1	0	0	0	0	0	0	0	1	17990	1722	60	3		3	ZNF562	19	9763880	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	701743	9763880	49365103	1206	134706											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10220919	10220919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtgcagtgcggctcacCgaggtgaggcccagggcagg	18	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:10220919C>T	uc002mna.2	+	8	819	c.819C>T	c.(817-819)ACC>ACT	p.T273T	PPAN-P2RY11_uc010xla.1_Silent_p.T273T|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.T273T|PPAN_uc002mnb.1_Silent_p.T220T	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	273	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGCGGCTCACCGAGGTGAGGC	0.687													T	10220919	C	T	10220919	2	4	270	1	0	0	0	0	0	0	0	1	12289	639	23	1		1	PPAN-P2RY11	19	10220919	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	457039	10220919	48908064	1207	134707											
DNM2	1785	broad.mit.edu	37	chr19	10906072	10906072	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgacgagaaggacttaCgacgggagatcagctatgcc	13	8	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:10906072C>T	uc002mps.1	+	9	1317	c.1153C>T	c.(1153-1155)CGA>TGA	p.R385*	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Nonsense_Mutation_p.R385*|DNM2_uc002mpv.1_Nonsense_Mutation_p.R385*|DNM2_uc002mpu.1_Nonsense_Mutation_p.R385*|DNM2_uc010dxl.1_Nonsense_Mutation_p.R385*|DNM2_uc002mpw.2_Nonsense_Mutation_p.R118*	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	385					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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGGACTTACGACGGGAGAT	0.577													T	10906072	C	T	10906072	4	4	270	1	0	0	0	0	0	1	0	0	4672	528	19	1	1187	1	DNM2	19	10906072	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	685153	10906072	48222911	1208	134708											
DNM2	1785	broad.mit.edu	37	chr19	10940882	10940883	+	Frame_Shift_Ins	INS	-	-	C													gaggggccccactccagggcINScccccctgattcctgttccc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:10940881_10940882G>GC	uc002mpt.2	+	19	2560_2561	c.2370_2371G>GC	c.(2368-2373)gggcccfs	p.G790fs	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Ins_p.G790fs|DNM2_uc010dxl.2_Frame_Shift_Ins_p.G790fs|DNM2_uc002mpu.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpv.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpw.3_Frame_Shift_Ins_p.G519fs|DNM2_uc002mpx.1_Frame_Shift_Ins_p.G146fs	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	790	Pro-rich.				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	Golgi membrane|cell junction|cytosol|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)			CCACTCCAGGGCCCCCCCTGAT	0.693			"F, N, Splice, Mis, O"		ETP ALL								C	10940883	-	C	10940882	7	5	270	1	0	1	1	0	0	0	0	0	4672	739	26	0	2592	0	DNM2	19	10940882	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	34810	10940882	48188101	1209	134709											
CCDC151	115948	broad.mit.edu	37	chr19	11531506	11531506	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtcaggacgagtctaGgacctccgagagcgacggtg	17	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:11531506G>T	uc002mrs.2	-	13	1928	c.1785C>A	c.(1783-1785)TCC>TCA	p.S595S	CCDC151_uc002mrr.2_Silent_p.S530S|CCDC151_uc010dxz.2_Silent_p.S535S|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	595										ovary(1)	1						GACGAGTCTAGGACCTCCGAG	0.637													T	11531506	G	T	11531506	2	4	270	1	0	0	0	0	0	0	0	1	2786	987	35	5		5	CCDC151	19	11531506	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	590624	11531506	47597477	1210	134710											
CCDC151	115948	broad.mit.edu	37	chr19	11545825	11545827	+	In_Frame_Del	DEL	GAG	GAG	-													ggcggaggccgccctgcacaGaggagatgtcatgatggggt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:11545824_11545826AGAG>A	uc002mrs.3	-	0	155_157	c.12_14CTCT>T	c.(10-15)cctctg>ccTg	p.L5del	CCDC151_uc010dxz.3_In_Frame_Del_p.L5del|PRKCSH_uc002mrt.3_5'Flank|PRKCSH_uc002mru.3_5'Flank|PRKCSH_uc010xlz.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.3_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	5										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CGCCCTGCACAGAGGAGATGTCA	0.64											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	11545827	GAG	-	11545825	7	5	270	1	0	1	0	1	0	0	0	0	2786	933	33	0	1826	0	CCDC151	19	11545825	In_Frame_Del	DEL	GAG	TCGA-HU-A4GN-01A-11D-A25D-08	14319	11545825	47583158	1211	134711											
TNPO2	30000	broad.mit.edu	37	chr19	12812592	12812592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgccccccgggttgacacCgatcatcatgcagatgccgc	10	16	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:12812592C>T	uc002muo.2	-	22	2670	c.2485G>A	c.(2485-2487)GGT>AGT	p.G829S	TNPO2_uc002mup.2_Missense_Mutation_p.G911S|TNPO2_uc002muq.2_Missense_Mutation_p.G819S|TNPO2_uc002mur.2_Missense_Mutation_p.G819S	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	829					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGGTTGACACCGATCATCATG	0.667													T	12812592	C	T	12812592	3	4	270	1	0	0	0	0	1	0	0	0	16333	652	23	1	220	1	TNPO2	19	12812592	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1266767	12812592	46316391	1212	134712											
JUNB	3726	broad.mit.edu	37	chr19	12902925	12902925	+	Frame_Shift_Del	DEL	G	G	-													gacagtacttttacccccgcGggggtggcagcggtggaggt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:12902925delG	uc002mvc.2	+	1	616	c.340delG	c.(340-342)GGGfs	p.G114fs	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	114						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						TTACCCCCGCGGGGGTGGCAG	0.667													-	12902925	G	-	12902925	7	5	270	1	0	1	0	1	0	0	0	0	7970	1116	39	0	342	0	JUNB	19	12902925	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	90333	12902925	46226058	1213	134713											
MAST1	22983	broad.mit.edu	37	chr19	12985260	12985260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctctggcgaggcggGcacacccctggtacccattg	13	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:12985260G>A	uc002mvm.2	+	26	4417	c.4289G>A	c.(4288-4290)GGC>GAC	p.G1430D		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1430					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GGCGAGGCGGGCACACCCCTG	0.706													A	12985260	G	A	12985260	3	1	270	1	0	0	0	0	1	0	0	0	9324	1203	42	2	4391	2	MAST1	19	12985260	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	82335	12985260	46143723	1214	134714											
FARSA	2193	broad.mit.edu	37	chr19	13041103	13041104	+	Frame_Shift_Ins	INS	-	-	C													ccccagcttctcagcctgtcINSccccccggaccagctggagc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:13041102_13041103T>TC	uc002mvs.2	-	3	485_486	c.437_438A>GA	c.(436-438)ggafs	p.G146fs	FARSA_uc010xmv.1_Frame_Shift_Ins_p.G146fs	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	146					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCTCAGCCTGTCCCCCCCGGAC	0.653													C	13041104	-	C	13041103	7	5	270	1	0	1	1	0	0	0	0	0	5679	855	30	0	1129	0	FARSA	19	13041103	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	55843	13041103	46087880	1215	134715											
NACC1	112939	broad.mit.edu	37	chr19	13249068	13249068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaagagctggatgcccAaggtcaaggtgctcaaggct	14	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:13249068A>G	uc002mwm.2	+	6	1600	c.1432A>G	c.(1432-1434)AAG>GAG	p.K478E		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	478					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						CTGGATGCCCAAGGTCAAGGT	0.597													G	13249068	A	G	13249068	3	3	270	1	0	0	0	0	1	0	0	0	10135	131	5	3	1450	3	NACC1	19	13249068	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	207965	13249068	45879915	1216	134716											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941204	13941204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggaccctcagaactgCgccttgcctgccctgaccct	9	16	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:13941204C>T	uc002mxh.1	+	13	2499	c.2310C>T	c.(2308-2310)TGC>TGT	p.C770C	ZSWIM4_uc010xng.1_Silent_p.C693C	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	770							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTCAGAACTGCGCCTTGCCTG	0.701													T	13941204	C	T	13941204	2	4	270	1	0	0	0	0	0	0	0	1	18240	776	27	1		1	ZSWIM4	19	13941204	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	692136	13941204	45187779	1217	134717											
ILVBL	10994	broad.mit.edu	37	chr19	15226969	15226969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcccttccttaccaggatCgagccagcgcagggggccgc	15	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15226969C>T	uc002nam.2	-	12	1586	c.1465G>A	c.(1465-1467)GAT>AAT	p.D489N	ILVBL_uc010xof.1_Missense_Mutation_p.D130N|ILVBL_uc010dzw.2_Missense_Mutation_p.D382N	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	489	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						TTACCAGGATCGAGCCAGCGC	0.642													T	15226969	C	T	15226969	3	4	270	1	0	0	0	0	1	0	0	0	7715	884	31	1	453	1	ILVBL	19	15226969	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1285765	15226969	43902014	1218	134718											
NOTCH3	4854	broad.mit.edu	37	chr19	15281358	15281358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttctggaggctccagcGgctcccctaagagcaggaag	15	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15281358G>A	uc002nan.2	-	27	4974	c.4898C>T	c.(4897-4899)CCG>CTG	p.P1633L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1633	Extracellular (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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGCTCCAGCGGCTCCCCTAA	0.716													A	15281358	G	A	15281358	3	1	270	1	0	0	0	0	1	0	0	0	10550	1116	39	1	2095	1	NOTCH3	19	15281358	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	54389	15281358	43847625	1219	134719											
WIZ	58525	broad.mit.edu	37	chr19	15533994	15533994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgccgctgtaagtgccGcacccactcttcctggatgg	12	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15533994G>A	uc002nbc.2	-	8	2823	c.2800C>T	c.(2800-2802)CGG>TGG	p.R934W	WIZ_uc002nba.3_Missense_Mutation_p.R801W|WIZ_uc002nbb.3_Missense_Mutation_p.R760W	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1617	C2H2-type 11.					nucleus	zinc ion binding				0						TGTAAGTGCCGCACCCACTCT	0.637													A	15533994	G	A	15533994	3	1	270	1	0	0	0	0	1	0	0	0	17372	1086	38	1	110	1	WIZ	19	15533994	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	252636	15533994	43594989	1220	134720											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586525	15586525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcagcaccgttctgccgtCggaagttgctgcggaaccct	13	13	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15586525C>T	uc002nbf.3	-	2	1089	c.956G>A	c.(955-957)CGA>CAA	p.R319Q	PGLYRP2_uc002nbg.3_Missense_Mutation_p.R319Q	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	319					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			ovary(3)	3						GTTCTGCCGTCGGAAGTTGCT	0.637													T	15586525	C	T	15586525	3	4	270	1	0	0	0	0	1	0	0	0	11794	884	31	1	790	1	PGLYRP2	19	15586525	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	52531	15586525	43542458	1221	134721											
CYP4F22	126410	broad.mit.edu	37	chr19	15661545	15661545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctctccactggcctatGtgcccttctctgcaggaccc	9	17	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15661545G>A	uc002nbh.3	+	13	1563	c.1396G>A	c.(1396-1398)GTG>ATG	p.V466M		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	466						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						ACTGGCCTATGTGCCCTTCTC	0.587													A	15661545	G	A	15661545	3	1	270	1	0	0	0	0	1	0	0	0	4189	1377	48	4	1438	4	CYP4F22	19	15661545	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	75020	15661545	43467438	1222	134722											
ANO8	57719	broad.mit.edu	37	chr19	17442127	17442127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctggttttcacacacgGcctgcacccatgacttcatg	10	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:17442127G>A	uc002ngf.2	-	6	839	c.680C>T	c.(679-681)GCC>GTC	p.A227V	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	227	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TTCACACACGGCCTGCACCCA	0.632													A	17442127	G	A	17442127	3	1	270	1	0	0	0	0	1	0	0	0	703	1203	42	2	3070	2	ANO8	19	17442127	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1780582	17442127	41686856	1223	134723											
FAM129C	199786	broad.mit.edu	37	chr19	17664122	17664122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgggtttgtttcctagCtccaaatcttaacttggtgt	8	8	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:17664122C>T	uc010xpr.1	+	16	1982	c.1844C>T	c.(1843-1845)GCT>GTT	p.A615V	GLT25D1_uc002nhc.1_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	615											0						TGTTTCCTAGCTCCAAATCTT	0.398													T	17664122	C	T	17664122	3	4	270	1	0	0	0	0	1	0	0	0	5438	811	28	2	2023	2	FAM129C	19	17664122	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	221995	17664122	41464861	1224	134724											
PIK3R2	5296	broad.mit.edu	37	chr19	18278091	18278091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccggacctcatgcagctgCgcaagatccgagaccagtac	11	14	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18278091C>T	uc002nia.1	+	13	2223	c.1711C>T	c.(1711-1713)CGC>TGC	p.R571C	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	571					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			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CATGCAGCTGCGCAAGATCCG	0.622													T	18278091	C	T	18278091	3	4	270	1	0	0	0	0	1	0	0	0	11919	768	27	1	1757	1	PIK3R2	19	18278091	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	613969	18278091	40850892	1225	134725											
MPV17L2	84769	broad.mit.edu	37	chr19	18305819	18305820	+	Frame_Shift_Ins	INS	-	-	C													cgtgaacttcctcttcgtgcINSccccccaatttcgagtcacc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18305818_18305819G>GC	uc010ebj.3	+	1	836_837	c.217_218G>GC	c.(217-219)gccfs	p.A73fs	MPV17L2_uc002nid.3_Frame_Shift_Ins_p.V162fs			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	0						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													C	18305820	-	C	18305819	7	5	270	1	0	1	1	0	0	0	0	0	9747	739	26	0	501	0	MPV17L2	19	18305819	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	27728	18305819	40823164	1226	134726											
KIAA1683	80726	broad.mit.edu	37	chr19	18368676	18368676	+	Frame_Shift_Del	DEL	C	C	-													agtagcttggatgaccatggCcccccggtgccacagccgga							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18368675_18368675GC>G	uc010ebn.2	-	3	3635	c.3419_3419GC>C	c.(3418-3420)gccfs	p.A1140fs	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Frame_Shift_Del_p.A953fs|KIAA1683_uc010xqe.1_Frame_Shift_Del_p.A907fs|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	1140	IQ 5.|IQ 6.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATGACCATGGCCCCCCGGTG	0.672													-	18368676	C	-	18368676	7	5	270	1	0	1	0	1	0	0	0	0	8251	739	26	0	689	0	KIAA1683	19	18368676	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	62857	18368676	40760307	1227	134727											
UPF1	5976	broad.mit.edu	37	chr19	18967816	18967816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatggttcccgtggtccTcggggccaagcaggtgggct	17	11	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18967816T>C	uc002nkg.2	+	14	2263	c.1988T>C	c.(1987-1989)CTC>CCC	p.L663P	UPF1_uc002nkf.2_Missense_Mutation_p.L652P|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	663					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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCCGTGGTCCTCGGGGCCAAG	0.577													C	18967816	T	C	18967816	3	2	270	1	0	0	0	0	1	0	0	0	17000	1551	54	3	2009	3	UPF1	19	18967816	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	599140	18967816	40161167	1228	134728											
GMIP	51291	broad.mit.edu	37	chr19	19744697	19744697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggctaggactgggggcTgggagtctgggtcaaggtgc	20	7	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:19744697T>C	uc002nnd.2	-	19	2504	c.2387A>G	c.(2386-2388)CAG>CGG	p.Q796R	GMIP_uc010xrb.1_Missense_Mutation_p.Q770R|GMIP_uc010xrc.1_Missense_Mutation_p.Q767R	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	796	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						gactgggggctgggagtctgg	0.219													C	19744697	T	C	19744697	3	2	270	1	0	0	0	0	1	0	0	0	6491	1580	55	3	537	3	GMIP	19	19744697	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	776881	19744697	39384286	1229	134729											
ATP13A1	57130	broad.mit.edu	37	chr19	19765378	19765378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgtccagtccacggccGtcagcatggccttctctaga	10	15	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:19765378G>A	uc002nnh.3	-	13	1815	c.1787C>T	c.(1786-1788)ACG>ATG	p.T596M	ATP13A1_uc002nne.2_5'Flank|ATP13A1_uc002nnf.3_Translation_Start_Site|ATP13A1_uc002nng.2_Missense_Mutation_p.T478M	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	596	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GTCCACGGCCGTCAGCATGGC	0.667													A	19765378	G	A	19765378	3	1	270	1	0	0	0	0	1	0	0	0	1123	1145	40	1	1883	1	ATP13A1	19	19765378	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	20681	19765378	39363605	1230	134730											
ZNF714	148206	broad.mit.edu	37	chr19	21300088	21300088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaatgtgaagaatgtggCaaagcttttaagcactcctc	8	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:21300088C>T	uc002npo.3	+	6	981	c.621C>T	c.(619-621)GGC>GGT	p.G207G	ZNF714_uc002npl.2_Silent_p.G52G|ZNF714_uc010ecp.1_Silent_p.G158G|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	207	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGAATGTGGCAAAGCTTTTA	0.403													T	21300088	C	T	21300088	2	4	270	1	0	0	0	0	0	0	0	1	18115	697	25	2		2	ZNF714	19	21300088	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1534710	21300088	37828895	1231	134731											
ZNF257	113835	broad.mit.edu	37	chr19	22255611	22255611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgtgtgtttttcagGgaccactgacaattagggat	12	5	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:22255611G>A	uc010ecx.2	+	2	173	c.4G>A	c.(4-6)GGA>AGA	p.G2R	ZNF257_uc010ecy.2_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTTTTCAGGGACCACTGAC	0.413													A	22255611	G	A	22255611	3	1	270	1	0	0	0	0	1	0	0	0	17797	1246	43	4	10	4	ZNF257	19	22255611	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	955523	22255611	36873372	1232	134732											
ZNF676	163223	broad.mit.edu	37	chr19	22363522	22363522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCagcatgaattctcttgtgtt	8	8	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:22363522C>T	uc002nqs.1	-	3	1315	c.997G>A	c.(997-999)GGA>AGA	p.G333R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGTTTCTCTCCAGCATGAATT	0.403													T	22363522	C	T	22363522	3	4	270	1	0	0	0	0	1	0	0	0	18080	603	21	4	773	4	ZNF676	19	22363522	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	107911	22363522	36765461	1233	134733											
POP4	10775	broad.mit.edu	37	chr19	30106265	30106265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcgaagaagttcaaagCgaagggaacgattgacctgt	13	7	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:30106265C>T	uc002nsf.2	+	7	697	c.641C>T	c.(640-642)GCG>GTG	p.A214V	POP4_uc002nsg.2_Missense_Mutation_p.A133V	NM_006627	NP_006618	O95707	RPP29_HUMAN	processing of precursor 4	214					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding				0	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)			AAGTTCAAAGCGAAGGGAACG	0.323													T	30106265	C	T	30106265	3	4	270	1	0	0	0	0	1	0	0	0	12252	768	27	1	667	1	POP4	19	30106265	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7742743	30106265	29022718	1234	134734											
MAG	4099	broad.mit.edu	37	chr19	35786696	35786696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccccggtggtcttcaagtCgcgcacccaagtagtccacg	10	17	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:35786696C>T	uc002nyy.1	+	4	376	c.227C>T	c.(226-228)TCG>TTG	p.S76L	MAG_uc002nyx.1_Missense_Mutation_p.S76L|MAG_uc010eds.1_Missense_Mutation_p.S51L|MAG_uc002nyz.1_Missense_Mutation_p.S76L	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	76	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			GTCTTCAAGTCGCGCACCCAA	0.642													T	35786696	C	T	35786696	3	4	270	1	0	0	0	0	1	0	0	0	9162	893	31	1	233	1	MAG	19	35786696	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5680431	35786696	23342287	1235	134735											
ATP4A	495	broad.mit.edu	37	chr19	36053496	36053496	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccgcagtgcgttgggCccatcccgcagcagcagctc	15	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36053496C>A	uc002oal.1	-	4	290	c.261G>T	c.(259-261)GGG>GGT	p.G87G		NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	87	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	GTGCGTTGGGCCCATCCCGCA	0.706													A	36053496	C	A	36053496	2	1	270	1	0	0	0	0	0	0	0	1	1145	726	26	5		5	ATP4A	19	36053496	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	266800	36053496	23075487	1236	134736											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-													cctagcagatgtggctcctaCccccccaaagacccctgccc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36210764	C	-	36210764	7	5	270	1	0	1	0	1	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	157268	36210764	22918219	1237	134737											
KIRREL2	84063	broad.mit.edu	37	chr19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-													aacccacacctgggcatggtCcccccctgcagactttacag							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627													-	36357214	C	-	36357214	7	5	270	1	0	1	0	1	0	0	0	0	8325	842	30	0	2005	0	KIRREL2	19	36357214	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	146450	36357214	22771769	1238	134738											
APLP1	333	broad.mit.edu	37	chr19	36370038	36370038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatcatgggagcgggCggaggctccctcatcgtcct	14	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36370038C>T	uc002oce.2	+	16	1911	c.1773C>T	c.(1771-1773)GGC>GGT	p.G591G	APLP1_uc010xsz.1_Silent_p.G552G|APLP1_uc002ocf.2_Silent_p.G592G|APLP1_uc002ocg.2_Silent_p.G495G|APLP1_uc010xta.1_Silent_p.G585G	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	591	Helical; (Potential).				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			ovary(2)	2	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)			TGGGAGCGGGCGGAGGCTCCC	0.642													T	36370038	C	T	36370038	2	4	270	1	0	0	0	0	0	0	0	1	778	755	27	1		1	APLP1	19	36370038	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	12824	36370038	22758945	1239	134739											
HCST	10870	broad.mit.edu	37	chr19	36394742	36394742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggctgctgatgcggtgGcatcgctgctcatcgtgggg	17	10	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36394742G>A	uc002ocl.1	+	3	292	c.178G>A	c.(178-180)GCA>ACA	p.A60T	HCST_uc002ock.1_Missense_Mutation_p.A60T	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer isoform 1	60	Helical; (Potential).				regulation of immune response	integral to membrane|plasma membrane					0	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)			TGATGCGGTGGCATCGCTGCT	0.682													A	36394742	G	A	36394742	3	1	270	1	0	0	0	0	1	0	0	0	7003	1203	42	2	188	2	HCST	19	36394742	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	24704	36394742	22734241	1240	134740											
ZNF260	339324	broad.mit.edu	37	chr19	37006132	37006132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaagactttccaacatGcctatcatgcatgtgaattt	7	9	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:37006132G>A	uc002oee.1	-	4	853	c.9C>T	c.(7-9)GGC>GGT	p.G3G	ZNF260_uc002oed.1_5'UTR|ZNF260_uc010eey.1_5'UTR|ZNF260_uc002oef.1_5'UTR	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	3					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TTTCCAACATGCCTATCATGC	0.333													A	37006132	G	A	37006132	2	1	270	1	0	0	0	0	0	0	0	1	17799	1306	46	2		2	ZNF260	19	37006132	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	611390	37006132	22122851	1241	134741											
ZNF790	388536	broad.mit.edu	37	chr19	37310583	37310583	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcatatgttttcttaacAgtgtgaactgtctgatattg	7	6	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:37310583A>G	uc002oew.2	-	5	782	c.663T>C	c.(661-663)ACT>ACC	p.T221T	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTTCTTAACAGTGTGAACTG	0.343													G	37310583	A	G	37310583	2	3	270	1	0	0	0	0	0	0	0	1	18159	175	7	3		3	ZNF790	19	37310583	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	304451	37310583	21818400	1242	134742											
DPF1	8193	broad.mit.edu	37	chr19	38704286	38704286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcgggcggcactcacgtCgttctcggaggttccgcaca	16	13	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:38704286C>T	uc002ohl.2	-	9	985	c.958G>A	c.(958-960)GAC>AAC	p.D320N	DPF1_uc002ohm.2_Missense_Mutation_p.D364N|DPF1_uc002ohn.2_Missense_Mutation_p.D282N|DPF1_uc010xtu.1_Missense_Mutation_p.D338N|DPF1_uc010xtv.1_Missense_Mutation_p.D338N	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	320	PHD-type 2.				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCACTCACGTCGTTCTCGGAG	0.652													T	38704286	C	T	38704286	3	4	270	1	0	0	0	0	1	0	0	0	4716	884	31	1	196	1	DPF1	19	38704286	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1393703	38704286	20424697	1243	134743											
RYR1	6261	broad.mit.edu	37	chr19	38987106	38987106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctctgctatttctgcCgaatcagccggcagaaccag	9	14	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:38987106C>T	uc002oit.2	+	41	6851	c.6721C>T	c.(6721-6723)CGA>TGA	p.R2241*	RYR1_uc002oiu.2_Nonsense_Mutation_p.R2241*|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2241	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATTTCTGCCGAATCAGCCG	0.632													T	38987106	C	T	38987106	4	4	270	1	0	0	0	0	0	1	0	0	13768	644	23	1	6883	1	RYR1	19	38987106	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	282820	38987106	20141877	1244	134744											
CAPN12	147968	broad.mit.edu	37	chr19	39221758	39221758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcacagaagatgcagGtgaggtgggccacacaggac	15	9	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39221758G>A	uc002ojd.1	-	19	2372	c.2063C>T	c.(2062-2064)ACC>ATC	p.T688I	CAPN12_uc010egd.1_Missense_Mutation_p.T49I|CAPN12_uc002ojc.1_Missense_Mutation_p.T142I	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	688	Domain IV.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAAGATGCAGGTGAGGTGGGC	0.647													A	39221758	G	A	39221758	3	1	270	1	0	0	0	0	1	0	0	0	2625	1261	44	4	108	4	CAPN12	19	39221758	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	234652	39221758	19907225	1245	134745											
CAPN12	147968	broad.mit.edu	37	chr19	39229238	39229238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcccgtgatggaataCgcgtgtccctttaccaggcc	12	12	0	1	rs148191501	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39229238C>T	uc002ojd.1	-	6	1089	c.780G>A	c.(778-780)GCG>GCA	p.A260A	CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	260	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGATGGAATACGCGTGTCCCT	0.627													T	39229238	C	T	39229238	2	4	270	1	0	0	0	0	0	0	0	1	2625	523	19	1		1	CAPN12	19	39229238	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	7480	39229238	19899745	1246	134746											
CAPN12	147968	broad.mit.edu	37	chr19	39230770	39230773	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													gccccatgctgttttgtctcAgatagagcacctcgcccacg					rs59420559		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39230769_39230772CAGAT>C	uc002ojd.1	-	4	957_960	c.648_651ATCTG>G	c.(646-651)tatctgfs	p.Y216fs		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	216	Calpain catalytic.				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)			TGTTTTGTCTCAGATAGAGCACCT	0.623													-	39230773	AGAT	-	39230770	7	5	270	1	0	1	0	1	0	0	0	0	2625	188	7	0	1577	0	CAPN12	19	39230770	Frame_Shift_Del	DEL	AGAT	TCGA-HU-A4GN-01A-11D-A25D-08	1532	39230770	19898213	1247	134747											
IL28B	282617	broad.mit.edu	37	chr19	39734465	39734465	+	Splice_Site	DEL	T	T	-													ctcttcccgggtcactcaccTtttttggggcctcctggagc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39734464_39734464CT>C	uc010xut.2	-	4	494	c.492_splice	c.e4+1	p.K164_splice	IL28B_uc010xuu.2_Splice_Site_p.K164_splice	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	164					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTCACTCACCTTTTTTGGGG	0.682													-	39734465	T	-	39734465	8	5	270	1	0	1	0	1	0	0	1	0	7683	1623	56	0	106	0	IL28B	19	39734465	Splice_Site	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	503695	39734465	19394518	1248	134748											
DYRK1B	9149	broad.mit.edu	37	chr19	40316563	40316563	+	Frame_Shift_Del	DEL	G	G	-													ggctcacatccatcagctccGggggtggtggtgaggttggt					rs146845211		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:40316562_40316562CG>C	uc002omj.3	-	10	1963	c.1683_1683CG>G	c.(1681-1683)ccgfs	p.P561fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.P533fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.P521fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	561	Poly-Pro.				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)			CCATCAGCTCCGGGGGTGGTG	0.711													-	40316563	G	-	40316563	7	5	270	1	0	1	0	1	0	0	0	0	4855	1116	39	0	211	0	DYRK1B	19	40316563	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	582098	40316563	18812420	1249	134749											
PSMC4	5704	broad.mit.edu	37	chr19	40485978	40485978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgtgcactctcagcCgacagggaggttcagaggat	14	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:40485978C>T	uc002omq.2	+	8	880	c.843C>T	c.(841-843)GCC>GCT	p.A281A	PSMC4_uc002omr.2_Silent_p.A250A	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	281					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACTCTCAGCCGACAGGGAGG	0.547													T	40485978	C	T	40485978	2	4	270	1	0	0	0	0	0	0	0	1	12689	666	23	1		1	PSMC4	19	40485978	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	169415	40485978	18643005	1250	134750											
AKT2	208	broad.mit.edu	37	chr19	40743902	40743902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcggtataccacgtcccGcgagtgcaagtactcaagag	12	12	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:40743902G>A	uc002onf.2	-	9	1067	c.805C>T	c.(805-807)CGG>TGG	p.R269W	AKT2_uc010egs.2_Missense_Mutation_p.R269W|AKT2_uc010egt.2_Missense_Mutation_p.R207W|AKT2_uc010xvj.1_Missense_Mutation_p.R207W|AKT2_uc010egu.1_Missense_Mutation_p.R207W|AKT2_uc002one.2_Missense_Mutation_p.R165W	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	269	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			lung(2)	2			Lung(22;0.000499)			ACCACGTCCCGCGAGTGCAAG	0.597			A		ovarian|pancreatic 								A	40743902	G	A	40743902	3	1	270	1	0	0	0	0	1	0	0	0	480	1086	38	1	664	1	AKT2	19	40743902	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	257924	40743902	18385081	1251	134751											
C19orf54	284325	broad.mit.edu	37	chr19	41249853	41249853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggcccttcctctgacaCggctcatggttgaagtcctc	10	13	2	2	rs3745217	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:41249853C>T	uc002oou.1	-	5	795	c.675G>A	c.(673-675)CCG>CCA	p.P225P	C19orf54_uc002oow.1_Silent_p.P53P|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Missense_Mutation_p.R46H|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	225											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCTCTGACACGGCTCATGGT	0.612													T	41249853	C	T	41249853	2	4	270	1	0	0	0	0	0	0	0	1	1936	523	19	1		1	C19orf54	19	41249853	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	505951	41249853	17879130	1252	134752											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41798223	41798223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcattgctttccgaaTccagaaggaagccttggggg	15	8	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:41798223T>A	uc002oqb.3	+	8	1362	c.1073T>A	c.(1072-1074)ATC>AAC	p.I358N	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.I258N|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.I258N|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.I358N|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.I244N|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.I258N|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.I258N|HNRNPUL1_uc010eho.2_Missense_Mutation_p.I258N|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.I258N|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.I214N|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.I258N	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	358	B30.2/SPRY.|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			central_nervous_system(1)|skin(1)	2						GCTTTCCGAATCCAGAAGGAA	0.478													A	41798223	T	A	41798223	3	1	270	1	0	0	0	0	1	0	0	0	7274	1435	50	5	1103	5	HNRNPUL1	19	41798223	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	548370	41798223	17330760	1253	134753											
CEACAM4	1089	broad.mit.edu	37	chr19	42132059	42132059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatcctgcgtcctccaGggtgatgttttggaacagca	13	9	0	1	rs142356987	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:42132059G>T	uc002orh.1	-	2	451	c.340C>A	c.(340-342)CTG>ATG	p.L114M	CEACAM4_uc010xwd.1_Missense_Mutation_p.L114M	NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	114	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction					0						GCGTCCTCCAGGGTGATGTTT	0.512													T	42132059	G	T	42132059	3	4	270	1	0	0	0	0	1	0	0	0	3194	991	35	5	418	5	CEACAM4	19	42132059	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	333836	42132059	16996924	1254	134754											
GRIK5	2901	broad.mit.edu	37	chr19	42546801	42546801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcaggcggtagcggaagCgcagcagctcggccagctcc	15	15	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:42546801C>T	uc002osj.1	-	11	1411	c.1376G>A	c.(1375-1377)CGC>CAC	p.R459H	GRIK5_uc002osi.1_Missense_Mutation_p.R31H|GRIK5_uc010eib.1_Missense_Mutation_p.R378H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	459	Extracellular (Potential).			RFR -> PFP (in Ref. 1; AAB22591).		cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTAGCGGAAGCGCAGCAGCTC	0.677													T	42546801	C	T	42546801	3	4	270	1	0	0	0	0	1	0	0	0	6777	768	27	1	1602	1	GRIK5	19	42546801	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	414742	42546801	16582182	1255	134755											
ZNF526	116115	broad.mit.edu	37	chr19	42729088	42729088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagtgccacctcctttgcCtcccccaacaccactgcctc	4	22	0	0	rs148307171		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:42729088C>A	uc002osz.1	+	3	689	c.533C>A	c.(532-534)CCT>CAT	p.P178H		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				CCTCCTTTGCCTCCCCCAACA	0.622													A	42729088	C	A	42729088	3	1	270	1	0	0	0	0	1	0	0	0	17964	681	24	5	535	5	ZNF526	19	42729088	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	182287	42729088	16399895	1256	134756											
ZNF575	284346	broad.mit.edu	37	chr19	44039443	44039443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccgcctcacgcacagCggcgcccgcccgcacccgtg	11	23	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:44039443C>T	uc002ows.2	+	4	870	c.342C>T	c.(340-342)AGC>AGT	p.S114S	ZNF575_uc002owq.2_Silent_p.S213S	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	zinc finger protein 575	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0199)				TCACGCACAGCGGCGCCCGCC	0.716													T	44039443	C	T	44039443	2	4	270	1	0	0	0	0	0	0	0	1	18004	767	27	1		1	ZNF575	19	44039443	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1310355	44039443	15089540	1257	134757											
ZNF227	7770	broad.mit.edu	37	chr19	44740799	44740799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccacctgggtgttcacaCcagggaaaaactctttaaat	8	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:44740799C>T	uc002oyu.2	+	6	2421	c.2216C>T	c.(2215-2217)ACC>ATC	p.T739I	ZNF227_uc010xwu.1_Missense_Mutation_p.T688I|ZNF227_uc002oyv.2_Missense_Mutation_p.T739I|ZNF227_uc010xwv.1_Missense_Mutation_p.T688I|ZNF227_uc010xww.1_Missense_Mutation_p.T660I|ZNF227_uc002oyw.2_Missense_Mutation_p.T711I|ZNF227_uc010ejh.2_Missense_Mutation_p.T732I|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GGTGTTCACACCAGGGAAAAA	0.493													T	44740799	C	T	44740799	3	4	270	1	0	0	0	0	1	0	0	0	17778	507	18	4	2230	4	ZNF227	19	44740799	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	701356	44740799	14388184	1258	134758											
ZNF233	353355	broad.mit.edu	37	chr19	44778460	44778460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctttagtcagagttcGcatctccaagaccatcagca	9	11	3	2	rs146745646	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:44778460G>A	uc002oyz.1	+	5	1774	c.1647G>A	c.(1645-1647)TCG>TCA	p.S549S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.S364S	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	549	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				GTCAGAGTTCGCATCTCCAAG	0.468													A	44778460	G	A	44778460	2	1	270	1	0	0	0	0	0	0	0	1	17783	1074	38	1		1	ZNF233	19	44778460	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	37661	44778460	14350523	1259	134759											
SFRS16	11129	broad.mit.edu	37	chr19	45573816	45573816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgagaatacagctcttctcGaaggtaaggaagcccatgac	10	10	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:45573816G>A	uc002pak.2	+	20	2077	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.R598Q|SFRS16_uc002pam.2_Missense_Mutation_p.R641Q	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	660	Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGCTCTTCTCGAAGGTAAGGA	0.537													A	45573816	G	A	45573816	3	1	270	1	0	0	0	0	1	0	0	0	14172	1058	37	1	2053	1	SFRS16	19	45573816	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	795356	45573816	13555167	1260	134760											
ERCC2	2068	broad.mit.edu	37	chr19	45856015	45856015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactcaccttgagaatgcGgctctgtgtgtagacgtagg	13	9	2	2	rs144511865		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:45856015G>A	uc002pbj.2	-	20	1938	c.1891C>T	c.(1891-1893)CGC>TGC	p.R631C	ERCC2_uc002pbh.2_Missense_Mutation_p.R194C|ERCC2_uc002pbi.2_Missense_Mutation_p.R324C|ERCC2_uc010ejz.2_Missense_Mutation_p.R553C|ERCC2_uc002pbk.2_Missense_Mutation_p.R607C	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	631	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			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TTGAGAATGCGGCTCTGTGTG	0.607			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	45856015	G	A	45856015	3	1	270	1	0	0	0	0	1	0	0	0	5213	1116	39	1	407	1	ERCC2	19	45856015	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	282199	45856015	13272968	1261	134761											
SIX5	147912	broad.mit.edu	37	chr19	46269033	46269033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcccctctggtgggggcGccgggaagttgggcaggagg	20	10	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:46269033G>A	uc002pdb.2	-	3	2341	c.1946C>T	c.(1945-1947)GCG>GTG	p.A649V	SIX5_uc002pdc.2_3'UTR	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	649						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		TGGTGGGGGCGCCGGGAAGTT	0.682													A	46269033	G	A	46269033	3	1	270	1	0	0	0	0	1	0	0	0	14350	1087	38	1	277	1	SIX5	19	46269033	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	413018	46269033	12859950	1262	134762											
RSPH6A	81492	broad.mit.edu	37	chr19	46299296	46299296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcttgttgaatgggggctGgcagggccgggttgaagctc	17	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:46299296G>T	uc002pdm.2	-	6	2128	c.1985C>A	c.(1984-1986)CCA>CAA	p.P662Q	RSPH6A_uc002pdl.2_Missense_Mutation_p.P398Q	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	662	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						AATGGGGGCTGGCAGGGCCGG	0.547													T	46299296	G	T	46299296	3	4	270	1	0	0	0	0	1	0	0	0	13707	1348	47	5	172	5	RSPH6A	19	46299296	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	30263	46299296	12829687	1263	134763											
PRKD2	25865	broad.mit.edu	37	chr19	47177801	47177801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagaacactgatgcgctcCgccagcccctgcatgtcgtg	11	15	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47177801C>T	uc002pfh.2	-	19	2958	c.2616G>A	c.(2614-2616)GCG>GCA	p.A872A	PRKD2_uc002pfd.2_Silent_p.A246A|PRKD2_uc010eks.2_Silent_p.A275A|PRKD2_uc010ekt.2_Silent_p.A139A|PRKD2_uc002pfe.2_Silent_p.A402A|PRKD2_uc002pff.2_Silent_p.A392A|PRKD2_uc002pfg.2_Silent_p.A715A|PRKD2_uc002pfi.2_Silent_p.A872A|PRKD2_uc002pfj.2_Silent_p.A872A|PRKD2_uc010xye.1_Silent_p.A882A|PRKD2_uc002pfk.2_Silent_p.A715A	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	872					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			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		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)		TGATGCGCTCCGCCAGCCCCT	0.622													T	47177801	C	T	47177801	2	4	270	1	0	0	0	0	0	0	0	1	12519	639	23	1		1	PRKD2	19	47177801	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	878505	47177801	11951182	1264	134764											
SAE1	10055	broad.mit.edu	37	chr19	47700504	47700504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagtgctcttaaagttcCgtacagataaaggaagagat	9	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47700504C>T	uc002pgc.2	+	7	804	c.748C>T	c.(748-750)CGT>TGT	p.R250C	SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.R76C|SAE1_uc002pge.2_Missense_Mutation_p.R186C	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	250					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			ovary(1)	1		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)		CTTAAAGTTCCGTACAGATAA	0.308													T	47700504	C	T	47700504	3	4	270	1	0	0	0	0	1	0	0	0	13805	652	23	1	774	1	SAE1	19	47700504	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	522703	47700504	11428479	1265	134765											
SAE1	10055	broad.mit.edu	37	chr19	47712468	47712468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcttcgatggcaTgaaggggaatgggattgtgg	14	6	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47712468T>C	uc002pgc.2	+	9	1057	c.1001T>C	c.(1000-1002)ATG>ACG	p.M334T	SAE1_uc002pgd.2_3'UTR|SAE1_uc010ekx.2_Silent_p.H262H|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.M160T|SAE1_uc002pge.2_Missense_Mutation_p.M270T	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	334					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			ovary(1)	1		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)		TTCGATGGCATGAAGGGGAAT	0.522													C	47712468	T	C	47712468	3	2	270	1	0	0	0	0	1	0	0	0	13805	1464	51	3	1035	3	SAE1	19	47712468	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	11964	47712468	11416515	1266	134766											
GPR77	27202	broad.mit.edu	37	chr19	47844468	47844468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgcttcctggctctcGggcctgcctggtggtctacg	12	15	3	0	rs147418161		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47844468G>A	uc010ela.1	+	2	630	c.412G>A	c.(412-414)GGG>AGG	p.G138R	GPR77_uc002pgk.1_Missense_Mutation_p.G138R	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	138	Cytoplasmic (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CCTGGCTCTCGGGCCTGCCTG	0.677													A	47844468	G	A	47844468	3	1	270	1	0	0	0	0	1	0	0	0	6709	1116	39	1	414	1	GPR77	19	47844468	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	132000	47844468	11284515	1267	134767											
DHX34	9704	broad.mit.edu	37	chr19	47858495	47858495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgcctgttgcccacgcGgcctgacctcaaggtcatcc	10	18	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47858495G>A	uc010xyn.1	+	3	1246	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	DHX34_uc010elc.1_Missense_Mutation_p.R302Q	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	302	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TTGCCCACGCGGCCTGACCTC	0.587													A	47858495	G	A	47858495	3	1	270	1	0	0	0	0	1	0	0	0	4507	1116	39	1	911	1	DHX34	19	47858495	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	14027	47858495	11270488	1268	134768											
GRIN2D	2906	broad.mit.edu	37	chr19	48918247	48918247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcaccaatggcaagcaCggaaagaagatcgatggcgt	13	9	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:48918247C>T	uc002pjc.3	+	6	1627	c.1539C>T	c.(1537-1539)CAC>CAT	p.H513H		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	513	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		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)	ATGGCAAGCACGGAAAGAAGA	0.607													T	48918247	C	T	48918247	2	4	270	1	0	0	0	0	0	0	0	1	6782	535	19	1		1	GRIN2D	19	48918247	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1059752	48918247	10210736	1269	134769											
RPL13A	23521	broad.mit.edu	37	chr19	49994304	49994304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctctaacagaaaaagcGgatggtggttcctgctgccc	10	11	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:49994304G>A	uc002pny.2	+	6	372	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	RPL13A_uc002pnz.2_Missense_Mutation_p.R56Q|RPL13A_uc002poa.2_Missense_Mutation_p.R107Q|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		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)		CAGAAAAAGCGGATGGTGGTT	0.562													A	49994304	G	A	49994304	3	1	270	1	0	0	0	0	1	0	0	0	13560	1116	39	1	372	1	RPL13A	19	49994304	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1076057	49994304	9134679	1270	134770											
CPT1C	126129	broad.mit.edu	37	chr19	50208537	50208537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatcttcaacaccacgcggAttccaggggtccaaaaaggt	10	11	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50208537A>G	uc002ppj.2	+	9	1151	c.946A>G	c.(946-948)ATT>GTT	p.I316V	CPT1C_uc002ppl.3_Missense_Mutation_p.I282V|CPT1C_uc002ppi.2_Missense_Mutation_p.I233V|CPT1C_uc002ppk.2_Missense_Mutation_p.I305V|CPT1C_uc010eng.2_Missense_Mutation_p.I316V|CPT1C_uc010enh.2_Missense_Mutation_p.I316V|CPT1C_uc010ybc.1_Missense_Mutation_p.I187V|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	316	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		CACCACGCGGATTCCAGGGGT	0.428													G	50208537	A	G	50208537	3	3	270	1	0	0	0	0	1	0	0	0	3833	333	12	3	976	3	CPT1C	19	50208537	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	214233	50208537	8920446	1271	134771											
CPT1C	126129	broad.mit.edu	37	chr19	50210827	50210827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctaacgggaagctgggcCtcagcgtggagcactcctgg	14	12	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50210827C>A	uc002ppj.2	+	12	1601	c.1396C>A	c.(1396-1398)CTC>ATC	p.L466I	CPT1C_uc002ppl.3_Missense_Mutation_p.L432I|CPT1C_uc002ppi.2_Missense_Mutation_p.L383I|CPT1C_uc002ppk.2_Missense_Mutation_p.L455I|CPT1C_uc010eng.2_Missense_Mutation_p.L466I|CPT1C_uc010enh.2_Missense_Mutation_p.L466I|CPT1C_uc010ybc.1_Missense_Mutation_p.L337I|CPT1C_uc010eni.1_Missense_Mutation_p.L123I	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	466	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		GAAGCTGGGCCTCAGCGTGGA	0.622													A	50210827	C	A	50210827	3	1	270	1	0	0	0	0	1	0	0	0	3833	681	24	5	1438	5	CPT1C	19	50210827	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2290	50210827	8918156	1272	134772											
TSKS	60385	broad.mit.edu	37	chr19	50243064	50243065	+	Frame_Shift_Ins	INS	-	-	G													ggctgagcccccctgttttgINSggggggttcctgcactgctg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50243063_50243064T>TG	uc002ppm.3	-	10	1759_1760	c.1748_1749A>CA	c.(1747-1749)ccafs	p.P583fs		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	583							protein binding	p.P582T(1)		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)		CCCCCTGTTTTGGGGGGGTTCC	0.545													G	50243065	-	G	50243064	7	5	270	1	0	1	1	0	0	0	0	0	16623	1348	47	0	34	0	TSKS	19	50243064	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	32237	50243064	8885919	1273	134773											
ZNF473	25888	broad.mit.edu	37	chr19	50549303	50549303	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaccctgaagtgccacgagAgtgttcacgccagagaaaaa	10	11	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50549303A>T	uc002prn.2	+	5	1840	c.1603A>T	c.(1603-1605)AGT>TGT	p.S535C	ZNF473_uc002prm.2_Missense_Mutation_p.S535C|ZNF473_uc010ybo.1_Missense_Mutation_p.S523C	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	535	C2H2-type 10.|Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGCCACGAGAGTGTTCACGC	0.453													T	50549303	A	T	50549303	3	4	270	1	0	0	0	0	1	0	0	0	17928	304	11	5	1617	5	ZNF473	19	50549303	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	306239	50549303	8579680	1274	134774											
MYH14	79784	broad.mit.edu	37	chr19	50720966	50720966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaccggggcaagaagcGccacgaggtgccaccccacg	14	14	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50720966G>A	uc002prr.1	+	3	547	c.500G>A	c.(499-501)CGC>CAC	p.R167H	MYH14_uc010enu.1_Missense_Mutation_p.R167H|MYH14_uc002prq.1_Missense_Mutation_p.R167H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	167	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCAAGAAGCGCCACGAGGTG	0.617													A	50720966	G	A	50720966	3	1	270	1	0	0	0	0	1	0	0	0	10033	1087	38	1	506	1	MYH14	19	50720966	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	171663	50720966	8408017	1275	134775											
SHANK1	50944	broad.mit.edu	37	chr19	51169816	51169816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtcctgaacaagcacGcagggccagcagcccatcgg	16	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51169816G>A	uc002psx.1	-	22	5420	c.5401C>T	c.(5401-5403)CGT>TGT	p.R1801C	SHANK1_uc002psw.1_Missense_Mutation_p.R1185C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1801					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAACAAGCACGCAGGGCCAGC	0.721													A	51169816	G	A	51169816	3	1	270	1	0	0	0	0	1	0	0	0	14264	1087	38	1	1092	1	SHANK1	19	51169816	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	448850	51169816	7959167	1276	134776											
GPR32	2854	broad.mit.edu	37	chr19	51274069	51274069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggatgactgtcttccGtatggcacgcacggtctcca	12	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51274069G>A	uc010ycf.1	+	1	212	c.212G>A	c.(211-213)CGT>CAT	p.R71H		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	71	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGTCTTCCGTATGGCACGC	0.577													A	51274069	G	A	51274069	3	1	270	1	0	0	0	0	1	0	0	0	6688	1145	40	1	214	1	GPR32	19	51274069	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	104253	51274069	7854914	1277	134777											
SIGLEC9	27180	broad.mit.edu	37	chr19	51631276	51631278	+	In_Frame_Del	DEL	CTT	CTT	-													acagccctggtcttcctgtcCttctgcgtcatcttcgttgt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51631275_51631277CCTT>C	uc010yct.2	+	4	1180_1182	c.1085_1087CCTT>C	c.(1084-1089)tccttc>tCtc	p.F363del	SIGLEC9_uc002pvu.3_In_Frame_Del_p.F363del	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	363					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)		GTCTTCCTGTCCTTCTGCGTCAT	0.576													-	51631278	CTT	-	51631276	7	5	270	1	0	1	0	1	0	0	0	0	14315	668	24	0	1104	0	SIGLEC9	19	51631276	In_Frame_Del	DEL	CTT	TCGA-HU-A4GN-01A-11D-A25D-08	357207	51631276	7497707	1278	134778											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961534	51961534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacacaggccctcctgcacCgtcaccagctcctgcacttg	7	19	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51961534C>T	uc002pwt.2	-	1	175	c.108G>A	c.(106-108)ACG>ACA	p.T36T	SIGLEC8_uc010yda.1_Silent_p.T36T|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.T36T	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	36	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTCCTGCACCGTCACCAGCT	0.522													T	51961534	C	T	51961534	2	4	270	1	0	0	0	0	0	0	0	1	14314	639	23	1		1	SIGLEC8	19	51961534	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	330258	51961534	7167449	1279	134779											
SIGLEC12	89858	broad.mit.edu	37	chr19	52003521	52003521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccgactctggcaccTccagcctgtatcttgacagt	8	15	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:52003521T>G	uc002pwx.1	-	2	517	c.461A>C	c.(460-462)GAG>GCG	p.E154A	SIGLEC12_uc002pww.1_Missense_Mutation_p.E36A|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	154	Ig-like V-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCTGGCACCTCCAGCCTGTA	0.577													G	52003521	T	G	52003521	3	3	270	1	0	0	0	0	1	0	0	0	14308	1551	54	5	1354	5	SIGLEC12	19	52003521	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	41987	52003521	7125462	1280	134780											
ZNF468	90333	broad.mit.edu	37	chr19	53344433	53344433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgaagtctatgatggcGtgcaagggttgatagtcgat	14	4	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:53344433G>A	uc002qaf.2	-	4	1265	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	ZNF468_uc002qae.2_Missense_Mutation_p.R319C	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	372	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		CTATGATGGCGTGCAAGGGTT	0.378													A	53344433	G	A	53344433	3	1	270	1	0	0	0	0	1	0	0	0	17925	1145	40	1	458	1	ZNF468	19	53344433	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1340912	53344433	5784550	1281	134781											
ZNF761	388561	broad.mit.edu	37	chr19	53957990	53957990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagggacattgcaaataCatgaaagtcatcacaatgga	9	7	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:53957990C>T	uc010eqp.2	+	7	687	c.229C>T	c.(229-231)CAT>TAT	p.H77Y	ZNF761_uc010ydy.1_Missense_Mutation_p.H23Y|ZNF761_uc002qbt.1_Missense_Mutation_p.H23Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ATTGCAAATACATGAAAGTCA	0.378													T	53957990	C	T	53957990	3	4	270	1	0	0	0	0	1	0	0	0	18133	478	17	4	240	4	ZNF761	19	53957990	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	613557	53957990	5170993	1282	134782											
CACNG8	59283	broad.mit.edu	37	chr19	54481413	54481413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagggttgaaaagaggCgtctgcgtgaagatcaatca	12	9	3	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:54481413C>T	uc002qcs.1	+	2	400	c.294C>T	c.(292-294)GGC>GGT	p.G98G		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	99					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				0	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)		TGAAAAGAGGCGTCTGCGTGA	0.632													T	54481413	C	T	54481413	2	4	270	1	0	0	0	0	0	0	0	1	2563	755	27	1		1	CACNG8	19	54481413	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	523423	54481413	4647570	1283	134783											
CNOT3	4849	broad.mit.edu	37	chr19	54653309	54653309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggaaggaacccagtgCggcagccccaacgggggctg	15	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:54653309C>T	uc002qdj.1	+	13	1732	c.1421C>T	c.(1420-1422)GCG>GTG	p.A474V	CNOT3_uc010yel.1_Missense_Mutation_p.A474V|CNOT3_uc002qdi.2_Missense_Mutation_p.A387V|CNOT3_uc002qdk.1_Missense_Mutation_p.A474V|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_5'UTR	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	474	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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAACCCAGTGCGGCAGCCCCA	0.672													T	54653309	C	T	54653309	3	4	270	1	0	0	0	0	1	0	0	0	3620	768	27	1	1467	1	CNOT3	19	54653309	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	171896	54653309	4475674	1284	134784											
C19orf51	352909	broad.mit.edu	37	chr19	55672519	55672519	+	Frame_Shift_Del	DEL	C	C	-													gaagggccccgtggcgatgtCcccccagtacccgcgcgctg							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:55672519delC	uc002qji.1	-	8	860	c.826delG	c.(826-828)GACfs	p.D276fs	C19orf51_uc002qjh.1_Frame_Shift_Del_p.D91fs|C19orf51_uc002qjj.1_Frame_Shift_Del_p.D323fs|C19orf51_uc002qjk.1_Frame_Shift_Del_p.D222fs|C19orf51_uc002qjl.1_Frame_Shift_Del_p.D344fs			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	276											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTGGCGATGTCCCCCCAGTAC	0.657													-	55672519	C	-	55672519	7	5	270	1	0	1	0	1	0	0	0	0	1933	855	30	0	819	0	C19orf51	19	55672519	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	1019210	55672519	3456464	1285	134785											
PTPRH	5794	broad.mit.edu	37	chr19	55716887	55716887	+	Frame_Shift_Del	DEL	G	G	-													ttctgtgggtctgggccgtcGgggacctcccaggtcagggc					rs143790378	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:55716886_55716886CG>C	uc002qjq.3	-	3	500	c.427_427CG>G	c.(427-429)gacfs	p.D143fs	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Frame_Shift_Del_p.D150fs	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	143	Fibronectin type-III 2.				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)		TCTGGGCCGTCGGGGACCTCC	0.587													-	55716887	G	-	55716887	7	5	270	1	0	1	0	1	0	0	0	0	12803	1103	39	0	2989	0	PTPRH	19	55716887	Frame_Shift_Del	DEL	G	TCGA-HU-A4GN-01A-11D-A25D-08	44368	55716887	3412096	1286	134786											
ZNF628	89887	broad.mit.edu	37	chr19	55995311	55995311	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgaggccagcactggTgtggtccaggatgtcctctt	15	10	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:55995311T>C	uc002qld.2	+	3	3304	c.2739T>C	c.(2737-2739)GGT>GGC	p.G913G	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	913						nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCAGCACTGGTGTGGTCCAGG	0.667													C	55995311	T	C	55995311	2	2	270	1	0	0	0	0	0	0	0	1	18049	1683	59	3		3	ZNF628	19	55995311	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	278424	55995311	3133672	1287	134787											
NLRP4	147945	broad.mit.edu	37	chr19	56370010	56370010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgagttttgtgaagaCgacctccggagaaatggggt	13	6	0	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:56370010C>T	uc002qmd.3	+	3	1673	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	NLRP4_uc002qmf.2_Silent_p.D342D|NLRP4_uc010etf.2_Silent_p.D248D	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	417	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTGTGAAGACGACCTCCGGA	0.587													T	56370010	C	T	56370010	2	4	270	1	0	0	0	0	0	0	0	1	10479	535	19	1		1	NLRP4	19	56370010	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	374699	56370010	2758973	1288	134788											
ZNF71	58491	broad.mit.edu	37	chr19	57133306	57133306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagccgtatgtgtgcgaCgtgtgtggcaaggccttccg	16	9	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:57133306C>T	uc002qnm.3	+	3	889	c.651C>T	c.(649-651)GAC>GAT	p.D217D		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	217	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ATGTGTGCGACGTGTGTGGCA	0.657													T	57133306	C	T	57133306	2	4	270	1	0	0	0	0	0	0	0	1	18111	535	19	1		1	ZNF71	19	57133306	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	763296	57133306	1995677	1289	134789											
ZNF324B	388569	broad.mit.edu	37	chr19	58967762	58967762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaagcccttcgtgtgcaCgcagtgtggccgcgccttcc	13	15	0	1	rs143809080		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:58967762C>T	uc002qsv.1	+	4	1558	c.1451C>T	c.(1450-1452)ACG>ATG	p.T484M	ZNF324B_uc002qsu.1_Missense_Mutation_p.T474M|ZNF324B_uc010euq.1_Missense_Mutation_p.T484M	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TTCGTGTGCACGCAGTGTGGC	0.672													T	58967762	C	T	58967762	3	4	270	1	0	0	0	0	1	0	0	0	17842	536	19	1	1461	1	ZNF324B	19	58967762	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1834456	58967762	161221	1290	134790											
ZNF324	25799	broad.mit.edu	37	chr19	58983109	58983109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctctttaagcaccagcGcgtgcacacaggcgagaagc	11	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:58983109G>A	uc002qsw.1	+	4	1344	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	ZNF324_uc002qsx.1_Missense_Mutation_p.R194H	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	417	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		AAGCACCAGCGCGTGCACACA	0.662													A	58983109	G	A	58983109	3	1	270	1	0	0	0	0	1	0	0	0	17841	1087	38	1	1260	1	ZNF324	19	58983109	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	15347	58983109	145874	1291	134791											
TGM3	7053	broad.mit.edu	37	chr20	2315907	2315907	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatcctggacaaccccacCttgaccctggaggtaatggg	10	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:2315907C>A	uc002wfx.3	+	11	1885	c.1788C>A	c.(1786-1788)ACC>ACA	p.T596T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	596					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			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	ACAACCCCACCTTGACCCTGG	0.617													A	2315907	C	A	2315907	2	1	270	1	0	0	0	0	0	0	0	1	15828	668	24	5		5	TGM3	20	2315907	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		2315907	60709613	1292	134792											
TGM6	343641	broad.mit.edu	37	chr20	2384451	2384451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgtggacatcactgacCtctacaagtatccggaaggt	10	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:2384451C>A	uc002wfy.1	+	9	1379	c.1318C>A	c.(1318-1320)CTC>ATC	p.L440I	TGM6_uc010gal.1_Missense_Mutation_p.L440I	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	440					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CATCACTGACCTCTACAAGTA	0.592													A	2384451	C	A	2384451	3	1	270	1	0	0	0	0	1	0	0	0	15831	681	24	5	1352	5	TGM6	20	2384451	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	68544	2384451	60641069	1293	134793											
C20orf194	25943	broad.mit.edu	37	chr20	3321212	3321213	+	Frame_Shift_Ins	INS	-	-	A													cagatgtccttcagaagggaINSagttaaagttgccagcattc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:3321211_3321212G>GA	uc002wii.2	-	9	971_972	c.920_921C>TC	c.(919-921)ttcfs	p.F307fs	C20orf194_uc002wij.3_Frame_Shift_Ins_p.F46fs|C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	307										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTTCAGAAGGGAAGTTAAAGTT	0.485													A	3321213	-	A	3321212	7	5	270	1	0	1	1	0	0	0	0	0	2099	246	9	0	2725	0	C20orf194	20	3321212	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	936761	3321212	59704308	1294	134794											
TMX4	56255	broad.mit.edu	37	chr20	7980488	7980488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggccacgataacggcGgaatatcccatcctttgcac	9	14	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:7980488G>A	uc002wmx.1	-	4	491	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	120	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						CGATAACGGCGGAATATCCCA	0.393													A	7980488	G	A	7980488	3	1	270	1	0	0	0	0	1	0	0	0	16266	1116	39	1	711	1	TMX4	20	7980488	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4659276	7980488	55045032	1295	134795											
ESF1	51575	broad.mit.edu	37	chr20	13763492	13763492	+	Frame_Shift_Del	DEL	T	T	-													gatttcttttttagtctgggTttttttcttctttattttct							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:13763492delT	uc002woj.2	-	2	403	c.295delA	c.(295-297)ACCfs	p.T99fs	ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	99	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTAGTCTGGGTTTTTTTCTTC	0.323													-	13763492	T	-	13763492	7	5	270	1	0	1	0	1	0	0	0	0	5251	1725	60	0	2312	0	ESF1	20	13763492	Frame_Shift_Del	DEL	T	TCGA-HU-A4GN-01A-11D-A25D-08	5783004	13763492	49262028	1296	134796											
FLRT3	23767	broad.mit.edu	37	chr20	14307986	14307986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtagcatcctctggtAttcctgttggaatggatgtc	12	7	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:14307986A>G	uc002wov.1	-	3	634	c.167T>C	c.(166-168)ATA>ACA	p.I56T	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.I56T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	56	Extracellular (Potential).|LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATCCTCTGGTATTCCTGTTGG	0.403													G	14307986	A	G	14307986	3	3	270	1	0	0	0	0	1	0	0	0	5940	449	16	3	1786	3	FLRT3	20	14307986	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	544494	14307986	48717534	1297	134797											
RRBP1	6238	broad.mit.edu	37	chr20	17602500	17602500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaccctcccctcctacCtgttgtgccaagacagagag	8	16	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:17602500C>A	uc002wpv.1	-	15	2295	c.1941G>T	c.(1939-1941)CAG>CAT	p.Q647H	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.Q17H|RRBP1_uc002wpu.2_Missense_Mutation_p.Q421H|RRBP1_uc002wpw.1_Missense_Mutation_p.Q647H|RRBP1_uc010gcl.1_Missense_Mutation_p.Q421H|RRBP1_uc010gcm.1_Missense_Mutation_p.Q100H	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1080	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCCCTCCTACCTGTTGTGCCA	0.592													A	17602500	C	A	17602500	3	1	270	1	0	0	0	0	1	0	0	0	13678	695	24	5	1040	5	RRBP1	20	17602500	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3294514	17602500	45423020	1298	134798											
RALGAPA2	57186	broad.mit.edu	37	chr20	20453516	20453516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttcacagccctgctggCgttgatgcacgtggcacata	11	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:20453516C>T	uc002wrz.2	-	37	5595	c.5452G>A	c.(5452-5454)GCC>ACC	p.A1818T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1522T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1266T|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A590T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1818	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GCCCTGCTGGCGTTGATGCAC	0.468													T	20453516	C	T	20453516	3	4	270	1	0	0	0	0	1	0	0	0	13014	768	27	1	181	1	RALGAPA2	20	20453516	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2851016	20453516	42572004	1299	134799											
SSTR4	6754	broad.mit.edu	37	chr20	23016874	23016874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctggcagcagcgcaggCgctcggagaagaaaatcacc	14	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:23016874C>T	uc002wsr.2	+	1	818	c.754C>T	c.(754-756)CGC>TGC	p.R252C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	252	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCGCAGGCGCTCGGAGAA	0.632													T	23016874	C	T	23016874	3	4	270	1	0	0	0	0	1	0	0	0	15199	768	27	1	756	1	SSTR4	20	23016874	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2563358	23016874	40008646	1300	134800											
PYGB	5834	broad.mit.edu	37	chr20	25261746	25261746	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggagatcgtgaaacagtcGgtgtgagtggggcgcttgcc	17	8	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:25261746G>T	uc002wup.2	+	11	1510	c.1401G>T	c.(1399-1401)TCG>TCT	p.S467S		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	467					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TGAAACAGTCGGTGTGAGTGG	0.592													T	25261746	G	T	25261746	2	4	270	1	0	0	0	0	0	0	0	1	12860	1103	39	5		5	PYGB	20	25261746	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2244872	25261746	37763774	1301	134801											
PYGB	5834	broad.mit.edu	37	chr20	25277133	25277133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctccgacctgcagatccCgccccccaacatcccccggg	8	23	0	1	rs116595887	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:25277133C>T	uc002wup.2	+	20	2616	c.2507C>T	c.(2506-2508)CCG>CTG	p.P836L	ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	836				IPPPNIPRD -> LQHLPHPEWESGGATCWAPPELCTHLAM Y (in Ref. 1; AAA59597).	glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CTGCAGATCCCGCCCCCCAAC	0.602													T	25277133	C	T	25277133	3	4	270	1	0	0	0	0	1	0	0	0	12860	652	23	1	2585	1	PYGB	20	25277133	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	15387	25277133	37748387	1302	134802											
NINL	22981	broad.mit.edu	37	chr20	25434182	25434182	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtttctcggcgcctcGctgcttctcctcggtggcct	11	15	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:25434182G>A	uc002wux.1	-	24	4128	c.4054C>T	c.(4054-4056)CGA>TGA	p.R1352*	NINL_uc010gdn.1_Nonsense_Mutation_p.R1003*|NINL_uc002wuw.1_Nonsense_Mutation_p.R143*	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1352	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCGGCGCCTCGCTGCTTCTCC	0.552													A	25434182	G	A	25434182	4	1	270	1	0	0	0	0	0	1	0	0	10420	1095	38	1	98	1	NINL	20	25434182	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	157049	25434182	37591338	1303	134803											
C20orf112	140688	broad.mit.edu	37	chr20	31040126	31040126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtaactgtagttgaggcCgccgttggcgtacacagggt	16	9	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:31040126C>T	uc002wxu.3	-	7	1160	c.1003G>A	c.(1003-1005)GGC>AGC	p.G335S	C20orf112_uc010gec.2_Missense_Mutation_p.G160S	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	335											0						TAGTTGAGGCCGCCGTTGGCG	0.632													T	31040126	C	T	31040126	3	4	270	1	0	0	0	0	1	0	0	0	2081	652	23	1	315	1	C20orf112	20	31040126	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	5605944	31040126	31985394	1304	134804											
AHCY	191	broad.mit.edu	37	chr20	32883312	32883312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaggccgagtaccgctcCcgcatacgcatcaggcccgg	13	15	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:32883312C>T	uc002xai.2	-	2	247	c.108G>A	c.(106-108)CGG>CGA	p.R36R	AHCY_uc002xaj.2_Silent_p.R8R|AHCY_uc010get.2_Silent_p.R36R	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	36					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						AGTACCGCTCCCGCATACGCA	0.662													T	32883312	C	T	32883312	2	4	270	1	0	0	0	0	0	0	0	1	409	610	22	4		4	AHCY	20	32883312	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1843186	32883312	30142208	1305	134805											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122488	33122488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagtatgccagcctcAtgcacagcttcatcctgaag	7	16	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:33122488A>G	uc002xal.2	+	3	196	c.136A>G	c.(136-138)ATG>GTG	p.M46V	DYNLRB1_uc010zuk.1_Missense_Mutation_p.M46V|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Roadblock-1	46					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity				0						TGCCAGCCTCATGCACAGCTT	0.547													G	33122488	A	G	33122488	3	3	270	1	0	0	0	0	1	0	0	0	4850	217	8	3	146	3	DYNLRB1	20	33122488	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	239176	33122488	29903032	1306	134806											
NCOA6	23054	broad.mit.edu	37	chr20	33364108	33364108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaagaccttcaatctgaaCggagagaatccctaaatccc	6	11	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:33364108C>T	uc002xav.2	-	5	2950	c.379G>A	c.(379-381)GTT>ATT	p.V127I	NCOA6_uc002xaw.2_Missense_Mutation_p.V127I|NCOA6_uc010gew.1_Missense_Mutation_p.V127I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	127	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-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			ovary(3)|breast(3)|central_nervous_system(1)	7						TCAATCTGAACGGAGAGAATC	0.488													T	33364108	C	T	33364108	3	4	270	1	0	0	0	0	1	0	0	0	10233	536	19	1	5860	1	NCOA6	20	33364108	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	241620	33364108	29661412	1307	134807											
RBL1	5933	broad.mit.edu	37	chr20	35696449	35696449	+	Frame_Shift_Del	DEL	A	A	-													atggattttgaaatatatctAaaaaaattggctcatatttt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:35696448_35696448TA>T	uc002xgi.3	-	2	511	c.432_432TA>A	c.(430-432)ttafs	p.L144fs	RBL1_uc002xgj.1_Frame_Shift_Del_p.L144fs|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	144					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)				GAAATATATCTAAAAAAATTG	0.333													-	35696449	A	-	35696449	7	5	270	1	0	1	0	1	0	0	0	0	13109	372	13	0	2864	0	RBL1	20	35696449	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	2332341	35696449	27329071	1308	134808											
KIAA0406	9675	broad.mit.edu	37	chr20	36640099	36640099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcagagccagatgaCgcagatttaaagagatccca	12	8	0	5	rs141770247	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:36640099C>T	uc002xhl.2	-	3	2329	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	KIAA0406_uc002xhm.2_Missense_Mutation_p.R707H	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	707							binding				0		Myeloproliferative disorder(115;0.00874)				AGCCAGATGACGCAGATTTAA	0.483													T	36640099	C	T	36640099	3	4	270	1	0	0	0	0	1	0	0	0	8173	536	19	1	1177	1	KIAA0406	20	36640099	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	943650	36640099	26385421	1309	134809											
ZNF335	63925	broad.mit.edu	37	chr20	44594330	44594330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccaggtctccttcgggGccttggggtactgggggtgg	19	11	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:44594330G>A	uc002xqw.2	-	7	1162	c.1039C>T	c.(1039-1041)CCC>TCC	p.P347S	ZNF335_uc010zxk.1_Missense_Mutation_p.P192S|ZNF335_uc002xqx.1_Missense_Mutation_p.P315S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CTCCTTCGGGGCCTTGGGGTA	0.662													A	44594330	G	A	44594330	3	1	270	1	0	0	0	0	1	0	0	0	17849	1203	42	2	3077	2	ZNF335	20	44594330	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7954231	44594330	18431190	1310	134810											
MMP9	4318	broad.mit.edu	37	chr20	44639874	44639874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgcctgcaccaccgacGgtcgctccgacggcttgccc	10	19	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:44639874G>A	uc002xqz.2	+	5	761	c.742G>A	c.(742-744)GGT>AGT	p.G248S		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	248	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CACCACCGACGGTCGCTCCGA	0.647													A	44639874	G	A	44639874	3	1	270	1	0	0	0	0	1	0	0	0	9669	1116	39	1	760	1	MMP9	20	44639874	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	45544	44639874	18385646	1311	134811											
MMP9	4318	broad.mit.edu	37	chr20	44642136	44642136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatcttcgacgccatcGcggagattgggaaccagctg	12	11	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:44642136G>A	uc002xqz.2	+	9	1592	c.1573G>A	c.(1573-1575)GCG>ACG	p.A525T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	525	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGACGCCATCGCGGAGATTGG	0.512											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44642136	G	A	44642136	3	1	270	1	0	0	0	0	1	0	0	0	9669	1087	38	1	1607	1	MMP9	20	44642136	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2262	44642136	18383384	1312	134812											
EYA2	2139	broad.mit.edu	37	chr20	45725724	45725724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctctttcatcacagCgtgtgttcgtgtgggacttg	10	11	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:45725724C>T	uc002xsm.2	+	9	1179	c.805C>T	c.(805-807)CGT>TGT	p.R269C	EYA2_uc010ghp.2_Missense_Mutation_p.R269C|EYA2_uc002xsn.2_Missense_Mutation_p.R274C|EYA2_uc002xso.2_Missense_Mutation_p.R269C|EYA2_uc002xsp.2_Missense_Mutation_p.R269C|EYA2_uc002xsq.2_Missense_Mutation_p.R269C	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	269					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			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				TTCATCACAGCGTGTGTTCGT	0.423													T	45725724	C	T	45725724	3	4	270	1	0	0	0	0	1	0	0	0	5329	782	27	1	835	1	EYA2	20	45725724	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1083588	45725724	17299796	1313	134813											
ZMYND8	23613	broad.mit.edu	37	chr20	45853116	45853116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtctcatccaccgccTgctgcttctccaactccagc	6	18	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:45853116T>C	uc002xta.1	-	19	3304	c.3050A>G	c.(3049-3051)CAG>CGG	p.Q1017R	ZMYND8_uc010ghq.1_Missense_Mutation_p.Q648R|ZMYND8_uc010ghr.1_Missense_Mutation_p.Q919R|ZMYND8_uc002xst.1_Missense_Mutation_p.Q899R|ZMYND8_uc002xsu.1_Missense_Mutation_p.Q890R|ZMYND8_uc002xsv.1_Missense_Mutation_p.Q945R|ZMYND8_uc002xsw.1_Missense_Mutation_p.Q723R|ZMYND8_uc002xsx.1_Missense_Mutation_p.Q723R|ZMYND8_uc002xsy.1_Missense_Mutation_p.Q946R|ZMYND8_uc002xsz.1_Missense_Mutation_p.Q908R|ZMYND8_uc010zxy.1_Missense_Mutation_p.Q1044R|ZMYND8_uc002xtb.1_Missense_Mutation_p.Q991R|ZMYND8_uc002xss.2_Missense_Mutation_p.Q1017R|ZMYND8_uc010zxz.1_Missense_Mutation_p.Q885R|ZMYND8_uc002xtc.1_Missense_Mutation_p.Q991R|ZMYND8_uc002xtd.1_Missense_Mutation_p.Q966R|ZMYND8_uc002xte.1_Missense_Mutation_p.Q971R|ZMYND8_uc010zya.1_Missense_Mutation_p.Q1017R|ZMYND8_uc002xtf.1_Missense_Mutation_p.Q1037R|ZMYND8_uc002xsr.1_Missense_Mutation_p.Q116R	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1017							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATCCACCGCCTGCTGCTTCTC	0.592													C	45853116	T	C	45853116	3	2	270	1	0	0	0	0	1	0	0	0	17708	1580	55	3	614	3	ZMYND8	20	45853116	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	127392	45853116	17172404	1314	134814											
SLC9A8	23315	broad.mit.edu	37	chr20	48504378	48504378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacccaggacctgcaccacGggcgcatccagatgaaaact	10	15	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:48504378G>A	uc002xuv.1	+	16	1861	c.1651G>A	c.(1651-1653)GGG>AGG	p.G551R	SLC9A8_uc010zym.1_Missense_Mutation_p.G251R|SLC9A8_uc010gid.2_Missense_Mutation_p.G175R	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	551						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCTGCACCACGGGCGCATCCA	0.632													A	48504378	G	A	48504378	3	1	270	1	0	0	0	0	1	0	0	0	14720	1116	39	1	1713	1	SLC9A8	20	48504378	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2651262	48504378	14521142	1315	134815											
NFATC2	4773	broad.mit.edu	37	chr20	50051813	50051813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttacaggtgtgcggatatgCttgttccgatattcagggat	12	6	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:50051813C>A	uc002xwd.2	-	8	2164	c.1944G>T	c.(1942-1944)AAG>AAT	p.K648N	NFATC2_uc002xwc.2_Missense_Mutation_p.K648N|NFATC2_uc010zyv.1_Missense_Mutation_p.K429N|NFATC2_uc010zyw.1_Missense_Mutation_p.K429N|NFATC2_uc010zyx.1_Missense_Mutation_p.K628N|NFATC2_uc010zyy.1_Missense_Mutation_p.K429N|NFATC2_uc010zyz.1_Missense_Mutation_p.K429N|NFATC2_uc002xwe.2_Missense_Mutation_p.K628N	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	648					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			ovary(2)	2	Hepatocellular(150;0.248)					TGCGGATATGCTTGTTCCGAT	0.438													A	50051813	C	A	50051813	3	1	270	1	0	0	0	0	1	0	0	0	10362	796	28	5	893	5	NFATC2	20	50051813	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1547435	50051813	12973707	1316	134816											
NFATC2	4773	broad.mit.edu	37	chr20	50090640	50090640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtccgtctcgcctttccGcagctcaatgtcggcgtttc	9	14	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:50090640G>A	uc002xwd.2	-	5	1805	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W	NFATC2_uc002xwc.2_Missense_Mutation_p.R529W|NFATC2_uc010zyv.1_Missense_Mutation_p.R310W|NFATC2_uc010zyw.1_Missense_Mutation_p.R310W|NFATC2_uc010zyx.1_Missense_Mutation_p.R509W|NFATC2_uc010zyy.1_Missense_Mutation_p.R310W|NFATC2_uc010zyz.1_Missense_Mutation_p.R310W|NFATC2_uc002xwe.2_Missense_Mutation_p.R509W	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	529	RHD.				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			ovary(2)	2	Hepatocellular(150;0.248)					TCGCCTTTCCGCAGCTCAATG	0.522													A	50090640	G	A	50090640	3	1	270	1	0	0	0	0	1	0	0	0	10362	1086	38	1	1264	1	NFATC2	20	50090640	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	38827	50090640	12934880	1317	134817											
ATP9A	10079	broad.mit.edu	37	chr20	50287727	50287727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcgaaccacggtcccGgggattttcgagtcccttcg	13	13	0	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:50287727G>A	uc002xwg.1	-	12	1107	c.1107C>T	c.(1105-1107)CCC>CCT	p.P369P	ATP9A_uc010gih.1_Silent_p.P233P|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	369	Cytoplasmic (Potential).				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			ovary(4)	4						CCACGGTCCCGGGGATTTTCG	0.547													A	50287727	G	A	50287727	2	1	270	1	0	0	0	0	0	0	0	1	1198	1103	39	1		1	ATP9A	20	50287727	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	197087	50287727	12737793	1318	134818											
BCAS1	8537	broad.mit.edu	37	chr20	52612451	52612451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagttttaaagaaactcaTgatggaattattattctctg	7	5	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:52612451T>C	uc002xws.2	-	5	1200	c.862A>G	c.(862-864)ATG>GTG	p.M288V	BCAS1_uc010zza.1_Missense_Mutation_p.M1V|BCAS1_uc010zzb.1_Missense_Mutation_p.M191V|BCAS1_uc010gim.2_Missense_Mutation_p.M191V|BCAS1_uc002xwt.2_Missense_Mutation_p.M288V|BCAS1_uc010gil.1_Missense_Mutation_p.M288V	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	288						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	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)			AAGAAACTCATGATGGAATTA	0.423													C	52612451	T	C	52612451	3	2	270	1	0	0	0	0	1	0	0	0	1350	1464	51	3	924	3	BCAS1	20	52612451	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2324724	52612451	10413069	1319	134819											
C20orf43	51507	broad.mit.edu	37	chr20	55048423	55048423	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtcaggaaatattaagaCgaccaatagttgcctgtgaa	9	6	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:55048423C>T	uc002xxt.2	+	2	243	c.136C>T	c.(136-138)CGA>TGA	p.R46*	C20orf43_uc010zzf.1_Nonsense_Mutation_p.R76*|C20orf43_uc002xxu.2_Nonsense_Mutation_p.R46*|C20orf43_uc002xxv.2_Nonsense_Mutation_p.R46*	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	46										ovary(1)	1			Colorectal(105;0.202)			AATATTAAGACGACCAATAGT	0.318													T	55048423	C	T	55048423	4	4	270	1	0	0	0	0	0	1	0	0	2112	528	19	1	142	1	C20orf43	20	55048423	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2435972	55048423	7977097	1320	134820											
GNAS	2778	broad.mit.edu	37	chr20	57415433	57415433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccacgagcacgaggaggCagaccttgagctgtccctcc	12	14	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:57415433C>T	uc002xzt.2	+	1	639	c.272C>T	c.(271-273)GCA>GTA	p.A91V	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CACGAGGAGGCAGACCTTGAG	0.627			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			T	57415433	C	T	57415433	3	4	270	1	0	0	0	0	1	0	0	0	6510	710	25	2	274	2	GNAS	20	57415433	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2367010	57415433	5610087	1321	134821											
TH1L	51497	broad.mit.edu	37	chr20	57566041	57566041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgccaggctctcgggGccatgctgtccaaaggagcc	15	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:57566041G>A	uc002yag.2	+	8	919	c.892G>A	c.(892-894)GCC>ACC	p.A298T	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.A298T	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	298					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			GGCTCTCGGGGCCATGCTGTC	0.557													A	57566041	G	A	57566041	3	1	270	1	0	0	0	0	1	0	0	0	15836	1203	42	2	922	2	TH1L	20	57566041	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	150608	57566041	5459479	1322	134822											
SYCP2	10388	broad.mit.edu	37	chr20	58457217	58457217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagctttttttctgaacttTttcctgaaaagagggttata	8	5	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:58457217T>C	uc002yaz.2	-	26	2672	c.2533A>G	c.(2533-2535)AAA>GAA	p.K845E		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	845					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCTGAACTTTTTcctgaaaa	0.139													C	58457217	T	C	58457217	3	2	270	1	0	0	0	0	1	0	0	0	15429	1850	64	3	2135	3	SYCP2	20	58457217	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	891176	58457217	4568303	1323	134823											
CDH4	1002	broad.mit.edu	37	chr20	60485530	60485530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtggtcgcaaacctcaCggtgatggaccgagatcagc	13	12	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:60485530C>T	uc002ybn.1	+	9	1255	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	CDH4_uc002ybp.1_Missense_Mutation_p.T340M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	414	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAAACCTCACGGTGATGGAC	0.542													T	60485530	C	T	60485530	3	4	270	1	0	0	0	0	1	0	0	0	3112	536	19	1	1275	1	CDH4	20	60485530	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	2028313	60485530	2539990	1324	134824											
TAF4	6874	broad.mit.edu	37	chr20	60581702	60581702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgagctactcagcaccAcggccgtgagcgcagtggtg	15	13	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:60581702A>G	uc002ybs.2	-	7	2087	c.2087T>C	c.(2086-2088)GTG>GCG	p.V696A		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	696					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			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACTCAGCACCACGGCCGTGAG	0.716													G	60581702	A	G	60581702	3	3	270	1	0	0	0	0	1	0	0	0	15523	159	6	3	1206	3	TAF4	20	60581702	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	96172	60581702	2443818	1325	134825											
LSM14B	149986	broad.mit.edu	37	chr20	60704864	60704864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttttccatccatcccaGtcggcaagagccccatggtg	10	14	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:60704864G>A	uc010gjy.1	+	4	657	c.451G>A	c.(451-453)GTC>ATC	p.V151I	LSM14B_uc010gjx.1_Missense_Mutation_p.V177I|LSM14B_uc002ybv.2_Missense_Mutation_p.V151I|LSM14B_uc010gjz.1_Missense_Mutation_p.V107I|LSM14B_uc010zzz.1_Missense_Mutation_p.V71I	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	151					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATCCATCCCAGTCGGCAAGAG	0.512													A	60704864	G	A	60704864	3	1	270	1	0	0	0	0	1	0	0	0	9055	1029	36	4	465	4	LSM14B	20	60704864	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	123162	60704864	2320656	1326	134826											
C20orf135	140701	broad.mit.edu	37	chr20	62493610	62493610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcacttcccgcccgcGcacctggtggtctacggctg	12	18	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:62493610G>A	uc002ygx.1	+	1	1045	c.717G>A	c.(715-717)GCG>GCA	p.A239A	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	239							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCCCGCCCGCGCACCTGGTGG	0.682													A	62493610	G	A	62493610	2	1	270	1	0	0	0	0	0	0	0	1	2088	1074	38	1		1	C20orf135	20	62493610	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1788746	62493610	531910	1327	134827											
RGS19	10287	broad.mit.edu	37	chr20	62707974	62707974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggacattgaagggggcCggtccgcctcctctggccct	14	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:62707974C>T	uc002yhy.2	-	3	323	c.56G>A	c.(55-57)CGG>CAG	p.R19Q	RGS19_uc002yhz.2_5'UTR|RGS19_uc002yia.2_Missense_Mutation_p.R19Q|RGS19_uc002yib.2_Missense_Mutation_p.R19Q	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	19					autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGAAGGGGGCCGGTCCGCCTC	0.627													T	62707974	C	T	62707974	3	4	270	1	0	0	0	0	1	0	0	0	13301	652	23	1	613	1	RGS19	20	62707974	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	214364	62707974	317546	1328	134828											
OPRL1	4987	broad.mit.edu	37	chr20	62724254	62724254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggggctctacctggccGtgtgtgtcggagggctcctg	17	11	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:62724254G>A	uc002yic.2	+	3	583	c.181G>A	c.(181-183)GTG>ATG	p.V61M	OPRL1_uc002yid.2_Missense_Mutation_p.V61M|OPRL1_uc002yif.3_Missense_Mutation_p.V61M	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	61	Helical; Name=1; (Potential).				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)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTACCTGGCCGTGTGTGTCGG	0.642													A	62724254	G	A	62724254	3	1	270	1	0	0	0	0	1	0	0	0	10886	1145	40	1	183	1	OPRL1	20	62724254	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	16280	62724254	301266	1329	134829											
APP	351	broad.mit.edu	37	chr21	27423391	27423391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccgcatcagcagaatccAcattgtcactttcttcagcc	5	16	4	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:27423391A>G	uc002ylz.2	-	5	787	c.587T>C	c.(586-588)GTG>GCG	p.V196A	APP_uc010glk.2_Missense_Mutation_p.V191A|APP_uc002yma.2_Missense_Mutation_p.V196A|APP_uc011ach.1_Missense_Mutation_p.V140A|APP_uc002ymb.2_Missense_Mutation_p.V196A|APP_uc010glj.2_Missense_Mutation_p.V140A|APP_uc011aci.1_Missense_Mutation_p.V161A|APP_uc011acj.1_Missense_Mutation_p.V196A	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	196	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				AGCAGAATCCACATTGTCACT	0.537													G	27423391	A	G	27423391	3	3	270	1	0	0	0	0	1	0	0	0	815	159	6	3	1781	3	APP	21	27423391	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08		27423391	20706504	1330	134830											
DONSON	29980	broad.mit.edu	37	chr21	34958406	34958406	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaggtgaaaaggagtcGcgttttaatactccagtcca	11	7	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:34958406G>A	uc002ysk.2	-	3	551	c.484C>T	c.(484-486)CGA>TGA	p.R162*	DONSON_uc002ysn.1_Nonsense_Mutation_p.R45*|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_Intron|DONSON_uc010gme.2_Nonsense_Mutation_p.R135*|DONSON_uc002ysm.2_Nonsense_Mutation_p.R162*	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	162					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						AAAAGGAGTCGCGTTTTAATA	0.433											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	34958406	G	A	34958406	4	1	270	1	0	0	0	0	0	1	0	0	4706	1095	38	1	1248	1	DONSON	21	34958406	Nonsense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7535015	34958406	13171489	1331	134831											
ITSN1	6453	broad.mit.edu	37	chr21	35195929	35195929	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaggccggagtcttcccttCtaactatgtgaggcttaaag	10	10	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:35195929C>T	uc002yta.1	+	25	3423	c.3155C>T	c.(3154-3156)TCT>TTT	p.S1052F	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Intron|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Missense_Mutation_p.S1052F|ITSN1_uc010gmi.2_Missense_Mutation_p.S1015F|ITSN1_uc010gmj.2_Missense_Mutation_p.S931F|ITSN1_uc002ysy.2_Missense_Mutation_p.S1047F|ITSN1_uc002ysx.2_Missense_Mutation_p.S1010F|ITSN1_uc002ytb.1_Missense_Mutation_p.S1047F|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Intron|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Missense_Mutation_p.S1047F|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Intron|ITSN1_uc002ytg.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1052	SH3 3.				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			ovary(3)|skin(1)	4						GTCTTCCCTTCTAACTATGTG	0.468													T	35195929	C	T	35195929	3	4	270	1	0	0	0	0	1	0	0	0	7926	913	32	4	3249	4	ITSN1	21	35195929	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	237523	35195929	12933966	1332	134832											
SETD4	54093	broad.mit.edu	37	chr21	37417922	37417922	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaggtccaggtacggagcGagtgcacaggtgtccggctc	16	11	0	0	rs145056271		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:37417922G>A	uc002yuw.1	-	5	2057	c.684C>T	c.(682-684)CTC>CTT	p.L228L	SETD4_uc002yux.1_Silent_p.L204L|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Silent_p.L228L|SETD4_uc002yuy.2_Silent_p.L228L|SETD4_uc002yuz.2_Silent_p.L204L|SETD4_uc002yva.2_Silent_p.L204L	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	228	SET.									large_intestine(1)|ovary(1)	2						GGTACGGAGCGAGTGCACAGG	0.592													A	37417922	G	A	37417922	2	1	270	1	0	0	0	0	0	0	0	1	14133	1045	37	1		1	SETD4	21	37417922	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2221993	37417922	10711973	1333	134833											
KCNJ6	3763	broad.mit.edu	37	chr21	39087018	39087018	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accaatggtggtttctgtctCtattgagaataaaaaagcag	9	6	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:39087018C>G	uc011aej.1	-	3	495	c.442G>C	c.(442-444)GAG>CAG	p.E148Q	KCNJ6_uc002ywo.2_Missense_Mutation_p.E148Q	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	148					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	GTTTCTGTCTCTATTGAGAAT	0.468													G	39087018	C	G	39087018	3	3	270	1	0	0	0	0	1	0	0	0	8055	922	32	5	837	5	KCNJ6	21	39087018	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1669096	39087018	9042877	1334	134834											
KCNJ15	3772	broad.mit.edu	37	chr21	39671474	39671474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatggggacttagaaccCggtgagcccatttcaaatca	9	10	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:39671474C>T	uc002ywv.2	+	4	593	c.291C>T	c.(289-291)CCC>CCT	p.P97P	KCNJ15_uc002yww.2_Silent_p.P97P|KCNJ15_uc002ywx.2_Silent_p.P97P	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	97	Extracellular (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						ACTTAGAACCCGGTGAGCCCA	0.483													T	39671474	C	T	39671474	2	4	270	1	0	0	0	0	0	0	0	1	8049	639	23	1		1	KCNJ15	21	39671474	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	584456	39671474	8458421	1335	134835											
BRWD1	54014	broad.mit.edu	37	chr21	40627652	40627652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgtagcaatctgactgCgtggagcgttttgatgcatc	12	8	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:40627652C>T	uc002yxk.1	-	19	2313	c.2174G>A	c.(2173-2175)CGC>CAC	p.R725H	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.R725H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.R178H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Missense_Mutation_p.R445H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATCTGACTGCGTGGAGCGTT	0.458													T	40627652	C	T	40627652	3	4	270	1	0	0	0	0	1	0	0	0	1525	768	27	1	5123	1	BRWD1	21	40627652	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	956178	40627652	7502243	1336	134836											
IL17RA	23765	broad.mit.edu	37	chr22	17578808	17578808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctgttccccgtggctcaCatcgaatggacactgcagac	10	14	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:17578808C>T	uc002zly.2	+	3	418	c.285C>T	c.(283-285)CAC>CAT	p.H95H	IL17RA_uc010gqt.2_Silent_p.H95H	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	95	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCGTGGCTCACATCGAATGGA	0.607													T	17578808	C	T	17578808	2	4	270	1	0	0	0	0	0	0	0	1	7639	477	17	4		4	IL17RA	22	17578808	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		17578808	33725758	1337	134837											
SEPT5	5413	broad.mit.edu	37	chr22	19707904	19707904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacttccgtgatgagagcGgcctcaaccgaaagaacatc	10	11	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:19707904G>A	uc002zpv.1	+	6	549	c.424G>A	c.(424-426)GGC>AGC	p.G142S	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	142					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)	1	Colorectal(54;0.0993)					TGATGAGAGCGGCCTCAACCG	0.597													A	19707904	G	A	19707904	3	1	270	1	0	0	0	0	1	0	0	0	14067	1116	39	1	446	1	SEPT5	22	19707904	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2129096	19707904	31596662	1338	134838											
KLHL22	84861	broad.mit.edu	37	chr22	20796677	20796677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccgtgcccagcagggaGtgggcagacagatgaccact	13	13	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:20796677G>A	uc002zsl.1	-	7	1697	c.1588C>T	c.(1588-1590)CTC>TTC	p.L530F	KLHL22_uc011ahr.1_Missense_Mutation_p.L387F	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	530	Kelch 5.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			CCAGCAGGGAGTGGGCAGACA	0.612													A	20796677	G	A	20796677	3	1	270	1	0	0	0	0	1	0	0	0	8377	1029	36	4	320	4	KLHL22	22	20796677	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1088773	20796677	30507889	1339	134839											
MED15	51586	broad.mit.edu	37	chr22	20939157	20939157	+	Frame_Shift_Del	DEL	C	C	-													tccagcccactcccccaccgCccccggtgccaccgaccaaa							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:20939156_20939156GC>G	uc002zsp.3	+	14	1898	c.1818_1818GC>G	c.(1816-1818)ccgfs	p.P606fs	MED15_uc002zsq.3_Frame_Shift_Del_p.P566fs|MED15_uc010gso.3_Frame_Shift_Del_p.P549fs|MED15_uc002zsr.3_Frame_Shift_Del_p.P540fs|MED15_uc011ahs.2_Frame_Shift_Del_p.P540fs|MED15_uc002zss.3_Frame_Shift_Del_p.P485fs|MED15_uc011ahu.2_Frame_Shift_Del_p.P316fs|MED15_uc002zst.3_Frame_Shift_Del_p.P222fs|MED15_uc002zsu.3_Frame_Shift_Del_p.P211fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	606	Poly-Pro.				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)			CTCCCCCACCGCCCCCGGTGC	0.652													-	20939157	C	-	20939157	7	5	270	1	0	1	0	1	0	0	0	0	9433	739	26	0	1877	0	MED15	22	20939157	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	142480	20939157	30365409	1340	134840											
PRAME	23532	broad.mit.edu	37	chr22	22893468	22893468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccacaagtctccgtgggCttgtccacacactcatgctg	9	15	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:22893468C>T	uc002zwf.2	-	3	221	c.65G>A	c.(64-66)AGC>AAC	p.S22N	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S6N|PRAME_uc010gtr.2_Missense_Mutation_p.S22N|PRAME_uc002zwg.2_Missense_Mutation_p.S22N|PRAME_uc002zwh.2_Missense_Mutation_p.S22N|PRAME_uc002zwi.2_Missense_Mutation_p.S22N|PRAME_uc002zwj.2_Missense_Mutation_p.S22N|PRAME_uc002zwk.2_Missense_Mutation_p.S22N	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	22					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			central_nervous_system(2)	2	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)		TCTCCGTGGGCTTGTCCACAC	0.577													T	22893468	C	T	22893468	3	4	270	1	0	0	0	0	1	0	0	0	12424	797	28	2	1476	2	PRAME	22	22893468	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1954311	22893468	28411098	1341	134841											
CYTSA	23384	broad.mit.edu	37	chr22	24810529	24810529	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaatggtacggactgaaCgacccgactggcagaacgtg	13	9	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:24810529C>T	uc002zzw.2	+	17	3599	c.3292C>T	c.(3292-3294)CGA>TGA	p.R1098*	CYTSA_uc002zzv.3_Nonsense_Mutation_p.R1098*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.R1059*	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	1098	CH.				cell cycle|cell division						0						ACGGACTGAACGACCCGACTG	0.557													T	24810529	C	T	24810529	4	4	270	1	0	0	0	0	0	1	0	0	4209	528	19	1	3350	1	CYTSA	22	24810529	Nonsense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1917061	24810529	26494037	1342	134842											
TFIP11	24144	broad.mit.edu	37	chr22	26895170	26895170	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtactcctcatagtacTtgtcctgcagggtttcgaag	9	11	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:26895170T>G	uc003acr.2	-	8	1603	c.1229A>C	c.(1228-1230)AAG>ACG	p.K410T	TFIP11_uc003acs.2_Missense_Mutation_p.K410T|TFIP11_uc003act.2_Missense_Mutation_p.K410T	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	410					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCATAGTACTTGTCCTGCAG	0.582													G	26895170	T	G	26895170	3	3	270	1	0	0	0	0	1	0	0	0	15804	1609	56	5	1312	5	TFIP11	22	26895170	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	2084641	26895170	24409396	1343	134843											
ASCC2	84164	broad.mit.edu	37	chr22	30188437	30188437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaccttgggagcctcctcGtcagcatcgtcttcctcatc	9	15	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:30188437G>A	uc003agr.2	-	18	2112	c.2007C>T	c.(2005-2007)GAC>GAT	p.D669D	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Silent_p.D669D|ASCC2_uc011akr.1_Silent_p.D593D	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	669					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GAGCCTCCTCGTCAGCATCGT	0.582													A	30188437	G	A	30188437	2	1	270	1	0	0	0	0	0	0	0	1	1032	1136	40	1		1	ASCC2	22	30188437	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	3293267	30188437	21116129	1344	134844											
CCDC157	550631	broad.mit.edu	37	chr22	30771488	30771488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggcagatccagcagcgtgGaatcccagataacatgtccc	11	12	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:30771488G>A	uc011aku.1	+	10	2353	c.1693G>A	c.(1693-1695)GAA>AAA	p.E565K	CCDC157_uc011akv.1_Missense_Mutation_p.E565K|uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	565										central_nervous_system(1)	1						CAGCAGCGTGGAATCCCAGAT	0.577													A	30771488	G	A	30771488	3	1	270	1	0	0	0	0	1	0	0	0	2789	1175	41	4	1723	4	CCDC157	22	30771488	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	583051	30771488	20533078	1345	134845											
MORC2	22880	broad.mit.edu	37	chr22	31333609	31333609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttccatagctctccggcGtttgtaacgcagctcactgg	10	12	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:31333609G>A	uc003aje.1	-	16	2637	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	487							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						GCTCTCCGGCGTTTGTAACGC	0.557													A	31333609	G	A	31333609	3	1	270	1	0	0	0	0	1	0	0	0	9702	1145	40	1	1687	1	MORC2	22	31333609	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	562121	31333609	19970957	1346	134846											
LIMK2	3985	broad.mit.edu	37	chr22	31658139	31658139	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaaccggatgcacatcAgtcccaacaatcgaaacgcc	9	14	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:31658139A>G	uc003akh.2	+	6	716	c.571A>G	c.(571-573)AGT>GGT	p.S191G	LIMK2_uc003akg.2_Missense_Mutation_p.S108G|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.S170G|LIMK2_uc003akk.2_Missense_Mutation_p.S170G|LIMK2_uc011aln.1_Missense_Mutation_p.S108G	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	191	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						GATGCACATCAGTCCCAACAA	0.547													G	31658139	A	G	31658139	3	3	270	1	0	0	0	0	1	0	0	0	8802	188	7	3	650	3	LIMK2	22	31658139	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	324530	31658139	19646427	1347	134847											
APOL6	80830	broad.mit.edu	37	chr22	36054849	36054849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcaccaaggctaacatgGtggccacctctactgctgtc	8	13	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36054849G>A	uc003aoe.2	+	3	532	c.238G>A	c.(238-240)GTG>ATG	p.V80M	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	80					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						GGCTAACATGGTGGCCACCTC	0.532													A	36054849	G	A	36054849	3	1	270	1	0	0	0	0	1	0	0	0	810	1261	44	4	244	4	APOL6	22	36054849	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	4396710	36054849	15249717	1348	134848											
APOL5	80831	broad.mit.edu	37	chr22	36122584	36122584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgaacatcctgggtttgGccctagcacctgtgacagca	10	12	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36122584G>A	uc003aof.2	+	3	469	c.469G>A	c.(469-471)GCC>ACC	p.A157T		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	157					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						CCTGGGTTTGGCCCTAGCACC	0.562													A	36122584	G	A	36122584	3	1	270	1	0	0	0	0	1	0	0	0	809	1203	42	2	479	2	APOL5	22	36122584	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	67735	36122584	15181982	1349	134849											
FOXRED2	80020	broad.mit.edu	37	chr22	36897391	36897391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggcttcctttggattcGtagctagctcgaatcagcgg	11	13	1	0	rs144879175		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36897391G>A	uc003apn.3	-	4	1221	c.1113C>T	c.(1111-1113)TAC>TAT	p.Y371Y	FOXRED2_uc003apm.3_5'Flank|FOXRED2_uc003apo.3_Silent_p.Y371Y|FOXRED2_uc003app.3_Silent_p.Y371Y	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	371					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						CTTTGGATTCGTAGCTAGCTC	0.527													A	36897391	G	A	36897391	2	1	270	1	0	0	0	0	0	0	0	1	6034	1140	40	1		1	FOXRED2	22	36897391	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	774807	36897391	14407175	1350	134850											
FOXRED2	80020	broad.mit.edu	37	chr22	36902129	36902129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggaagtaggcacgcgagTagtgtctgaagagcagccgg	18	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36902129T>C	uc003apn.3	-	1	449	c.341A>G	c.(340-342)TAC>TGC	p.Y114C	FOXRED2_uc003apo.3_Missense_Mutation_p.Y114C|FOXRED2_uc003app.3_Missense_Mutation_p.Y114C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	114					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						GGCACGCGAGTAGTGTCTGAA	0.632													C	36902129	T	C	36902129	3	2	270	1	0	0	0	0	1	0	0	0	6034	1638	57	3	1745	3	FOXRED2	22	36902129	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	4738	36902129	14402437	1351	134851											
CYTH4	27128	broad.mit.edu	37	chr22	37699442	37699442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccgaggaccagctgcGggtgagagaggcgcagccca	16	14	0	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:37699442G>A	uc003arf.2	+	8	811	c.695G>A	c.(694-696)CGG>CAG	p.R232Q	CYTH4_uc003are.2_Missense_Mutation_p.R232Q|CYTH4_uc011amw.1_Missense_Mutation_p.R175Q|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	232	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GACCAGCTGCGGGTGAGAGAG	0.642													A	37699442	G	A	37699442	3	1	270	1	0	0	0	0	1	0	0	0	4206	1130	39	1	725	1	CYTH4	22	37699442	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	797313	37699442	13605124	1352	134852											
TRIOBP	11078	broad.mit.edu	37	chr22	38120705	38120705	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctctcctaacagaacCacccaacaagagaaccccag	5	18	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:38120705C>A	uc003atr.2	+	7	2413	c.2142C>A	c.(2140-2142)ACC>ACA	p.T714T	TRIOBP_uc003atu.2_Silent_p.T542T|TRIOBP_uc003atq.1_Silent_p.T714T|TRIOBP_uc003ats.1_Silent_p.T542T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	714				RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332).	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)	1	Melanoma(58;0.0574)					CTAACAGAACCACCCAACAAG	0.572													A	38120705	C	A	38120705	2	1	270	1	0	0	0	0	0	0	0	1	16550	581	21	5		5	TRIOBP	22	38120705	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	421263	38120705	13183861	1353	134853											
TRIOBP	11078	broad.mit.edu	37	chr22	38121668	38121668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctcgctatttgcagcaCgaccccttccccttcttccc	4	22	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:38121668C>T	uc003atr.2	+	7	3376	c.3105C>T	c.(3103-3105)CAC>CAT	p.H1035H	TRIOBP_uc003atu.2_Silent_p.H863H|TRIOBP_uc003atq.1_Silent_p.H1035H|TRIOBP_uc003ats.1_Silent_p.H863H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1035					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)	1	Melanoma(58;0.0574)					ATTTGCAGCACGACCCCTTCC	0.647													T	38121668	C	T	38121668	2	4	270	1	0	0	0	0	0	0	0	1	16550	535	19	1		1	TRIOBP	22	38121668	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	963	38121668	13182898	1354	134854											
KCNJ4	3761	broad.mit.edu	37	chr22	38824062	38824062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacacgttgcattggcCgttcttcttgacgaagcggt	12	9	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:38824062C>T	uc003avs.1	-	2	173	c.76G>A	c.(76-78)GGC>AGC	p.G26S	KCNJ4_uc003avt.1_Missense_Mutation_p.G26S	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	26	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TTGCATTGGCCGTTCTTCTTG	0.637													T	38824062	C	T	38824062	3	4	270	1	0	0	0	0	1	0	0	0	8053	652	23	1	1265	1	KCNJ4	22	38824062	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	702394	38824062	12480504	1355	134855											
SUN2	25777	broad.mit.edu	37	chr22	39146312	39146312	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctggaactctgctggtcCacatccgagtagcctgcggg	14	12	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:39146312C>A	uc003awh.1	-	6	722	c.438G>T	c.(436-438)GTG>GTT	p.V146V	SUN2_uc011anz.1_Silent_p.V181V|SUN2_uc011aoa.1_Silent_p.V135V|SUN2_uc003awi.1_Silent_p.V146V|SUN2_uc010gxq.1_Silent_p.V167V|SUN2_uc010gxr.1_Silent_p.V146V|SUN2_uc010gxs.1_Silent_p.V146V	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	146	Nuclear.|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			large_intestine(1)|skin(1)	2						TCTGCTGGTCCACATCCGAGT	0.617													A	39146312	C	A	39146312	2	1	270	1	0	0	0	0	0	0	0	1	15389	581	21	5		5	SUN2	22	39146312	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	322250	39146312	12158254	1356	134856											
TAB1	10454	broad.mit.edu	37	chr22	39813774	39813774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccttgagagactcaagaCgttagagagggaaatttcgg	13	6	1	4			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:39813774C>T	uc003axt.2	+	5	519	c.470C>T	c.(469-471)ACG>ATG	p.T157M	TAB1_uc003axr.2_Missense_Mutation_p.T233M|TAB1_uc011aok.1_Translation_Start_Site|TAB1_uc003axu.1_Missense_Mutation_p.T157M	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	157	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)	1						AGACTCAAGACGTTAGAGAGG	0.567													T	39813774	C	T	39813774	3	4	270	1	0	0	0	0	1	0	0	0	15492	536	19	1	488	1	TAB1	22	39813774	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	667462	39813774	11490792	1357	134857											
TNRC6B	23112	broad.mit.edu	37	chr22	40711509	40711509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggactcacggctcgcctCgggtgaggaggatctgccta	14	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:40711509C>T	uc011aor.1	+	20	5112	c.4901C>T	c.(4900-4902)TCG>TTG	p.S1634L	TNRC6B_uc003aym.2_Missense_Mutation_p.S830L|TNRC6B_uc003ayn.3_Missense_Mutation_p.S1524L|TNRC6B_uc003ayo.2_Missense_Mutation_p.S1381L	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1634					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CGGCTCGCCTCGGGTGAGGAG	0.562													T	40711509	C	T	40711509	3	4	270	1	0	0	0	0	1	0	0	0	16338	893	31	1	5100	1	TNRC6B	22	40711509	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	897735	40711509	10593057	1358	134858											
EP300	2033	broad.mit.edu	37	chr22	41527551	41527551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcaagtaaatcagatgcCgacacaaccccaggtgcaag	8	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:41527551C>T	uc003azl.3	+	6	1837	c.1442C>T	c.(1441-1443)CCG>CTG	p.P481L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	481					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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AATCAGATGCCGACACAACCC	0.517			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				T	41527551	C	T	41527551	3	4	270	1	0	0	0	0	1	0	0	0	5148	652	23	1	1464	1	EP300	22	41527551	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	816042	41527551	9777015	1359	134859											
SREBF2	6721	broad.mit.edu	37	chr22	42289201	42289201	+	Frame_Shift_Del	DEL	C	C	-													tccctgcgctggctctgccaCcccctgggccagaagttttt							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:42289200_42289200AC>A	uc003bbi.3	+	11	2457	c.2288_2288AC>A	c.(2287-2289)cacfs	p.H763fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	763					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	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						TGGCTCTGCCACCCCCTGGGC	0.597													-	42289201	C	-	42289201	7	5	270	1	0	1	0	1	0	0	0	0	15141	506	18	0	2335	0	SREBF2	22	42289201	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	761650	42289201	9015365	1360	134860											
POLDIP3	84271	broad.mit.edu	37	chr22	42981828	42981828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaattctgtgggctgcGtggtcacagaggcccctgag	14	9	2	3	rs113566870		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:42981828G>A	uc003bcu.2	-	9	1334	c.1235C>T	c.(1234-1236)ACG>ATG	p.T412M	POLDIP3_uc011app.1_3'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.T383M|POLDIP3_uc011apq.1_Missense_Mutation_p.T429M|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	412					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						TGTGGGCTGCGTGGTCACAGA	0.587													A	42981828	G	A	42981828	3	1	270	1	0	0	0	0	1	0	0	0	12195	1145	40	1	34	1	POLDIP3	22	42981828	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	692627	42981828	8322738	1361	134861											
MCAT	27349	broad.mit.edu	37	chr22	43529199	43529199	+	Frame_Shift_Del	DEL	C	C	-													acttcgaaagtttgggggaaCcccctgccctttttcctttc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:43529198_43529198AC>A	uc003bdl.1	-	3	1073	c.1024_1024GT>T	c.(1024-1026)ttcfs	p.F342fs	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	342					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)				GTTTGGGGGAACCCCCTGCCC	0.592													-	43529199	C	-	43529199	7	5	270	1	0	1	0	1	0	0	0	0	9372	494	18	0	153	0	MCAT	22	43529199	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	547371	43529199	7775367	1362	134862											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45128176	45128176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgctgcacttccggAatgccatcaccctcagtgtg	10	15	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:45128176A>G	uc003bfd.2	+	6	732	c.460A>G	c.(460-462)AAT>GAT	p.N154D	PRR5_uc003bew.1_Missense_Mutation_p.N145D|PRR5_uc003bex.1_Missense_Mutation_p.N59D|PRR5_uc010gzt.1_Missense_Mutation_p.N177D|PRR5_uc010gzu.1_Missense_Mutation_p.N118D|PRR5_uc003bey.1_Missense_Mutation_p.N145D|PRR5_uc003bez.1_Missense_Mutation_p.N59D|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.N47D|PRR5_uc003bfb.1_Missense_Mutation_p.N154D|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.N53D	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						GCACTTCCGGAATGCCATCAC	0.667													G	45128176	A	G	45128176	3	3	270	1	0	0	0	0	1	0	0	0	12601	246	9	3		3	PRR5-ARHGAP8	22	45128176	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1598977	45128176	6176390	1363	134863											
ATXN10	25814	broad.mit.edu	37	chr22	46096163	46096163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttttatatattcttagcTtttcgctgtggcctgcagtt	7	8	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:46096163T>C	uc003bgm.1	+	4	650	c.393T>C	c.(391-393)GCT>GCC	p.A131A	ATXN10_uc011aqt.1_Silent_p.A67A|ATXN10_uc003bgn.1_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	131					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TATTCTTAGCTTTTCGCTGTG	0.303													C	46096163	T	C	46096163	2	2	270	1	0	0	0	0	0	0	0	1	1210	1623	56	3		3	ATXN10	22	46096163	Silent	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	967987	46096163	5208403	1364	134864											
BRD1	23774	broad.mit.edu	37	chr22	50217190	50217190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgactgcaggcagtggCggcagagccactggccctcg	15	16	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:50217190C>T	uc003biv.2	-	1	1263	c.776G>A	c.(775-777)CGC>CAC	p.R259H	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.R259H|BRD1_uc011arh.1_Missense_Mutation_p.R259H|BRD1_uc003biu.3_Missense_Mutation_p.R259H	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	259	PHD-type.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGCAGTGGCGGCAGAGCCA	0.647													T	50217190	C	T	50217190	3	4	270	1	0	0	0	0	1	0	0	0	1501	768	27	1	2448	1	BRD1	22	50217190	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	4121027	50217190	1087376	1365	134865											
SBF1	6305	broad.mit.edu	37	chr22	50900529	50900529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctccgtgtcatagctctCggccacactgccagccatgc	9	17	3	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:50900529C>T	uc003blh.2	-	20	2611	c.2416G>A	c.(2416-2418)GAG>AAG	p.E806K	SBF1_uc011arx.1_Missense_Mutation_p.E470K|SBF1_uc003bli.2_Missense_Mutation_p.E807K	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	806					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		TCATAGCTCTCGGCCACACTG	0.652													T	50900529	C	T	50900529	3	4	270	1	0	0	0	0	1	0	0	0	13858	893	31	1	3353	1	SBF1	22	50900529	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	683339	50900529	404037	1366	134866											
SHANK3	85358	broad.mit.edu	37	chr22	51160646	51160646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccgccgggcctgcccGccctcgctacctcttccaga	9	21	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:51160646G>A	uc003bne.1	+	22	4433	c.4433G>A	c.(4432-4434)CGC>CAC	p.R1478H	SHANK3_uc003bnf.1_Missense_Mutation_p.R925H|SHANK3_uc010hbg.1_Missense_Mutation_p.R660H	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1478										central_nervous_system(1)	1		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)		GGGCCTGCCCGCCCTCGCTAC	0.677													A	51160646	G	A	51160646	3	1	270	1	0	0	0	0	1	0	0	0	14266	1087	38	1	4519	1	SHANK3	22	51160646	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	260117	51160646	143920	1367	134867											
RABL2B	11158	broad.mit.edu	37	chr22	51208372	51208372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgcatgggatctctgGcctgaactcccgaagctctg	11	13	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:51208372G>A	uc003bno.1	-	6	586	c.370C>T	c.(370-372)CCA>TCA	p.P124S	RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_Intron|RABL2B_uc003bnm.1_Missense_Mutation_p.P124S|RABL2B_uc011asf.1_Missense_Mutation_p.P124S|RABL2B_uc003bnn.1_Missense_Mutation_p.P124S|RABL2B_uc003bnk.1_Missense_Mutation_p.P124S|RABL2B_uc011asg.1_Missense_Mutation_p.P124S|RABL2B_uc003bnl.1_Missense_Mutation_p.P124S|RABL2B_uc011ash.1_Intron	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	124					small GTPase mediated signal transduction		GTP binding|GTPase activity				0		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;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		GGGATCTCTGGCCTGAACTCC	0.512													A	51208372	G	A	51208372	3	1	270	1	0	0	0	0	1	0	0	0	12971	1203	42	2	365	2	RABL2B	22	51208372	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	47726	51208372	96194	1368	134868											
PLCXD1	55344	broad.mit.edu	37	chrX	215824	215824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtacgttctggcgcaccCgtccgagtccctggagaaga	13	13	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:215824C>T	uc004cpc.2	+	7	1106	c.794C>T	c.(793-795)CCG>CTG	p.P265L	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	265					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		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)				CTGGCGCACCCGTCCGAGTCC	0.657													T	215824	C	T	215824	3	4	270	1	0	0	0	0	1	0	0	0	12041	652	23	1	816	1	PLCXD1	23	215824	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08		215824	155054736	1369	134869											
CSF2RA	1438	broad.mit.edu	37	chrX	1413263	1413263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccgtacgttgcaacaCgacgcactgcctcgtacggt	10	14	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:1413263C>T	uc010nct.2	+	9	1011	c.689C>T	c.(688-690)ACG>ATG	p.T230M	CSF2RA_uc011mhb.1_Missense_Mutation_p.T230M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.T97M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T230M	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	230	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		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)	CGTTGCAACACGACGCACTGC	0.572													T	1413263	C	T	1413263	3	4	270	1	0	0	0	0	1	0	0	0	3934	536	19	1	711	1	CSF2RA	23	1413263	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1197439	1413263	153857297	1370	134870											
SLC25A6	293	broad.mit.edu	37	chrX	1506203	1506203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggactgcatcatcatgcgCcgccgcaccgtgtcgaaggg	13	15	2	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:1506203C>T	uc004cpt.2	-	3	804	c.708G>A	c.(706-708)CGG>CGA	p.R236R	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	236	Helical; Name=5; (By similarity).|Substrate recognition (By similarity).|Solcar 3.				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				0		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)	TCATCATGCGCCGCCGCACCG	0.687													T	1506203	C	T	1506203	2	4	270	1	0	0	0	0	0	0	0	1	14513	726	26	2		2	SLC25A6	23	1506203	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	92940	1506203	153764357	1371	134871											
ASMT	438	broad.mit.edu	37	chrX	1734120	1734120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcagaggaccaggcctatCgcctccttaatgactacgcc	8	16	1	2	rs143703303		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:1734120C>T	uc004cqd.2	+	2	173	c.28C>T	c.(28-30)CGC>TGC	p.R10C	ASMT_uc010ncy.2_Missense_Mutation_p.R10C|ASMT_uc004cqe.2_Missense_Mutation_p.R10C	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	10					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		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)				CCAGGCCTATCGCCTCCTTAA	0.572													T	1734120	C	T	1734120	3	4	270	1	0	0	0	0	1	0	0	0	1045	884	31	1	30	1	ASMT	23	1734120	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	227917	1734120	153536440	1372	134872											
ARSF	416	broad.mit.edu	37	chrX	2998955	2998955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttctagtggtaatagaCgtgtcatccaaaatcttgca	9	7	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:2998955C>T	uc004cre.1	+	5	528	c.307C>T	c.(307-309)CGT>TGT	p.R103C	ARSF_uc004crf.1_Missense_Mutation_p.R103C	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	103						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		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)				TGGTAATAGACGTGTCATCCA	0.398													T	2998955	C	T	2998955	3	4	270	1	0	0	0	0	1	0	0	0	991	536	19	1	321	1	ARSF	23	2998955	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	1264835	2998955	152271605	1373	134873											
NLGN4X	57502	broad.mit.edu	37	chrX	5821684	5821684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctgggatgacgtcgccGtcgatcaccggcccgaaggc	14	14	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:5821684G>A	uc010ndh.2	-	5	1536	c.1035C>T	c.(1033-1035)GAC>GAT	p.D345D	NLGN4X_uc004crp.2_Silent_p.D365D|NLGN4X_uc004crq.2_Silent_p.D345D|NLGN4X_uc010ndi.2_Silent_p.D382D|NLGN4X_uc004crr.2_Silent_p.D345D|NLGN4X_uc010ndj.2_Silent_p.D345D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	345	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						TGACGTCGCCGTCGATCACCG	0.587													A	5821684	G	A	5821684	2	1	270	1	0	0	0	0	0	0	0	1	10464	1136	40	1		1	NLGN4X	23	5821684	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	2822729	5821684	149448876	1374	134874											
CLCN4	1183	broad.mit.edu	37	chrX	10188763	10188763	+	Frame_Shift_Del	DEL	C	C	-													tcatgtacttcacggaggaaCcccccgagctgccggccaac							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:10188762_10188762AC>A	uc004csy.4	+	11	2467	c.2037_2037AC>A	c.(2035-2037)gaafs	p.E679fs	CLCN4_uc011mid.2_Frame_Shift_Del_p.E585fs	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	679						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGC	0.567													-	10188763	C	-	10188763	7	5	270	1	0	1	0	1	0	0	0	0	3465	507	18	0	2076	0	CLCN4	23	10188763	Frame_Shift_Del	DEL	C	TCGA-HU-A4GN-01A-11D-A25D-08	4367079	10188763	145081797	1375	134875											
ACE2	59272	broad.mit.edu	37	chrX	15613095	15613095	+	Frame_Shift_Del	DEL	A	A	-													caagtgtggactgttcctttAaaaaggcagaccatttgtcc							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:15613094_15613094TA>T	uc004cxa.1	-	1	387	c.219_219TA>A	c.(217-219)ttafs	p.L73fs	ACE2_uc004cxb.2_Frame_Shift_Del_p.L73fs	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	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)	ACTGTTCCTTTAAAAAGGCAG	0.403													-	15613095	A	-	15613095	7	5	270	1	0	1	0	1	0	0	0	0	137	372	13	0	2267	0	ACE2	23	15613095	Frame_Shift_Del	DEL	A	TCGA-HU-A4GN-01A-11D-A25D-08	5424332	15613095	139657465	1376	134876											
PCYT1B	9468	broad.mit.edu	37	chrX	24593350	24593350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttttcttccactctgTtcacaaattcctttgatctt	4	12	5	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:24593350T>C	uc004dbi.2	-	7	1027	c.794A>G	c.(793-795)AAC>AGC	p.N265S	PCYT1B_uc004dbk.3_Missense_Mutation_p.N265S|PCYT1B_uc004dbj.2_Missense_Mutation_p.N247S	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	265						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	TTCCACTCTGTTCACAAATTC	0.413													C	24593350	T	C	24593350	3	2	270	1	0	0	0	0	1	0	0	0	11611	1725	60	3	360	3	PCYT1B	23	24593350	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	8980255	24593350	130677210	1377	134877											
MAGEB10	139422	broad.mit.edu	37	chrX	27839447	27839447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaggtcagaagagtaaActccgtgccagggaaaaacg	12	10	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:27839447A>G	uc004dbw.2	+	3	251	c.24A>G	c.(22-24)AAA>AAG	p.K8K		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	8										lung(1)|breast(1)|central_nervous_system(1)	3						AGAAGAGTAAACTCCGTGCCA	0.527													G	27839447	A	G	27839447	2	3	270	1	0	0	0	0	0	0	0	1	9173	40	2	3		3	MAGEB10	23	27839447	Silent	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	3246097	27839447	127431113	1378	134878											
FGD1	2245	broad.mit.edu	37	chrX	54491964	54491964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctcatagcgggggatgCgctgcacaggctccagcatg	15	11	1	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:54491964C>T	uc004dtg.2	-	8	2290	c.1556G>A	c.(1555-1557)CGC>CAC	p.R519H	FGD1_uc011moi.1_Missense_Mutation_p.R277H	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	519	DH.				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			ovary(3)|skin(2)|central_nervous_system(1)	6						GCGGGGGATGCGCTGCACAGG	0.582													T	54491964	C	T	54491964	3	4	270	1	0	0	0	0	1	0	0	0	5832	768	27	1	1373	1	FGD1	23	54491964	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	26652517	54491964	100778596	1379	134879											
PFKFB1	5207	broad.mit.edu	37	chrX	54964064	54964064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaataggccaggaggcaccGcatgacagcctggtggcaga	15	10	0	2	rs140853589		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:54964064G>A	uc004dty.1	-	11	1263	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	PFKFB1_uc010nkd.1_Missense_Mutation_p.R206W|PFKFB1_uc011mol.1_Missense_Mutation_p.R333W	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	398	Fructose-2,6-bisphosphatase.			MR -> HA (in Ref. 5; AAA35818).	energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						AGGAGGCACCGCATGACAGCC	0.478													A	54964064	G	A	54964064	3	1	270	1	0	0	0	0	1	0	0	0	11760	1086	38	1	239	1	PFKFB1	23	54964064	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	472100	54964064	100306496	1380	134880											
SPIN4	139886	broad.mit.edu	37	chrX	62570234	62570234	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaacaggatctttctcgtaGgtgatgtaaaaccaagtatc	9	7	2	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:62570234G>T	uc004dvf.2	-	1	985	c.465C>A	c.(463-465)ACC>ACA	p.T155T		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	155					gamete generation					ovary(1)|lung(1)	2						CTTTCTCGTAGGTGATGTAAA	0.448													T	62570234	G	T	62570234	2	4	270	1	0	0	0	0	0	0	0	1	15055	987	35	5		5	SPIN4	23	62570234	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	7606170	62570234	92700326	1381	134881											
ARHGEF9	23229	broad.mit.edu	37	chrX	62893974	62893974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcaatattctctaaacGtcgcttgcgttcgttgatct	7	10	3	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:62893974G>A	uc004dvl.2	-	6	1707	c.868C>T	c.(868-870)CGT>TGT	p.R290C	ARHGEF9_uc004dvj.1_Missense_Mutation_p.R179C|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R152C|ARHGEF9_uc011mos.1_Missense_Mutation_p.R269C|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R269C|ARHGEF9_uc011mot.1_Missense_Mutation_p.R237C|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R297C	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	290					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			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						TTCTCTAAACGTCGCTTGCGT	0.453													A	62893974	G	A	62893974	3	1	270	1	0	0	0	0	1	0	0	0	912	1145	40	1	702	1	ARHGEF9	23	62893974	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	323740	62893974	92376586	1382	134882											
EDA2R	60401	broad.mit.edu	37	chrX	65822496	65822496	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcaatgtctgttgaAgaactgcttgcagtagagga	13	7	1	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:65822496A>C	uc004dwq.2	-	4	507	c.496T>G	c.(496-498)TTC>GTC	p.F166V	EDA2R_uc004dwr.2_Missense_Mutation_p.F166V|EDA2R_uc004dws.2_Missense_Mutation_p.F166V|EDA2R_uc011mpb.1_Intron|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.F166V|EDA2R_uc004dwt.1_Missense_Mutation_p.F166V	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	166	Cytoplasmic (Potential).				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						TGTCTGTTGAAGAACTGCTTG	0.532													C	65822496	A	C	65822496	3	2	270	1	0	0	0	0	1	0	0	0	4904	72	3	5	405	5	EDA2R	23	65822496	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	2928522	65822496	89448064	1383	134883											
CDX4	1046	broad.mit.edu	37	chrX	72667577	72667577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcatggatgcgcaagaCggtgcaggtgacgggtgagt	17	7	0	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:72667577C>T	uc011mqk.1	+	1	488	c.488C>T	c.(487-489)ACG>ATG	p.T163M		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					ATGCGCAAGACGGTGCAGGTG	0.627													T	72667577	C	T	72667577	3	4	270	1	0	0	0	0	1	0	0	0	3184	536	19	1	490	1	CDX4	23	72667577	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6845081	72667577	82602983	1384	134884											
TRMT2B	79979	broad.mit.edu	37	chrX	100277016	100277016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacctctgatgaaaaaTtcctttacaatctccttctg	5	12	3	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:100277016T>A	uc004egq.2	-	8	1091	c.792A>T	c.(790-792)GAA>GAT	p.E264D	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.E264D|TRMT2B_uc004egs.2_Missense_Mutation_p.E264D|TRMT2B_uc004egt.2_Missense_Mutation_p.E264D|TRMT2B_uc004egu.2_Missense_Mutation_p.E145D|TRMT2B_uc004egv.2_Missense_Mutation_p.E219D	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	264							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						TGATGAAAAATTCCTTTACAA	0.458													A	100277016	T	A	100277016	3	1	270	1	0	0	0	0	1	0	0	0	16563	1490	52	5	746	5	TRMT2B	23	100277016	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	27609439	100277016	54993544	1385	134885											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667763	100667763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtctgatagatttggaagaGacctcaattactgtttttca	9	6	3	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:100667763G>A	uc004ehm.2	+	2	957	c.787G>A	c.(787-789)GAC>AAC	p.D263N	HNRNPH2_uc004ehn.2_Missense_Mutation_p.D263N	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	263	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				0						ATTTGGAAGAGACCTCAATTA	0.478													A	100667763	G	A	100667763	3	1	270	1	0	0	0	0	1	0	0	0	7267	942	33	4	789	4	HNRNPH2	23	100667763	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	390747	100667763	54602797	1386	134886											
RAB40AL	282808	broad.mit.edu	37	chrX	102192725	102192725	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcagccctctgtgcaAtttcaacatcatagagtctt	8	10	5	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:102192725A>T	uc004ejs.2	+	1	526	c.479A>T	c.(478-480)AAT>ATT	p.N160I		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	160					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2						CCTCTGTGCAATTTCAACATC	0.597													T	102192725	A	T	102192725	3	4	270	1	0	0	0	0	1	0	0	0	12940	101	4	5	481	5	RAB40AL	23	102192725	Missense_Mutation	SNP	A	TCGA-HU-A4GN-01A-11D-A25D-08	1524962	102192725	53077835	1387	134887											
NGFRAP1	27018	broad.mit.edu	37	chrX	102632690	102632690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttgaggaattgtctgCgtatccttatgggggagctc	14	7	1	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:102632690C>T	uc004eki.2	+	3	653	c.271C>T	c.(271-273)CGT>TGT	p.R91C	NGFRAP1_uc004ekh.2_Missense_Mutation_p.R81C|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R91C	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	91	Interaction with 14-3-3 epsilon (By similarity).|Interaction with p75NTR/NGFR (By similarity).				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						GAATTGTCTGCGTATCCTTAT	0.418													T	102632690	C	T	102632690	3	4	270	1	0	0	0	0	1	0	0	0	10397	768	27	1	273	1	NGFRAP1	23	102632690	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	439965	102632690	52637870	1388	134888											
COL4A5	1287	broad.mit.edu	37	chrX	107867547	107867547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggactgagtggacaacctgGattaccaggaccaccaggta	12	10	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:107867547G>A	uc004enz.1	+	34	3201	c.2999G>A	c.(2998-3000)GGA>GAA	p.G1000E	COL4A5_uc011mso.1_Missense_Mutation_p.G1000E|COL4A5_uc004eob.1_Missense_Mutation_p.G608E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1000	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GGACAACCTGGATTACCAGGA	0.448									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107867547	G	A	107867547	3	1	270	1	0	0	0	0	1	0	0	0	3694	1174	41	4	3133	4	COL4A5	23	107867547	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	5234857	107867547	47403013	1389	134889											
ZDHHC9	51114	broad.mit.edu	37	chrX	128975838	128975838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgccgggccatcatgacGcggccatcacagcaaaaggt	11	12	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:128975838G>A	uc004euv.2	-	2	453	c.84C>T	c.(82-84)CGC>CGT	p.R28R	ZDHHC9_uc004euw.2_Silent_p.R28R|ZDHHC9_uc004eux.1_Silent_p.R28R|ZDHHC9_uc004euy.1_Intron	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	28	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						CCATCATGACGCGGCCATCAC	0.507													A	128975838	G	A	128975838	2	1	270	1	0	0	0	0	0	0	0	1	17619	1074	38	1		1	ZDHHC9	23	128975838	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	21108291	128975838	26294722	1390	134890											
VGLL1	51442	broad.mit.edu	37	chrX	135631047	135631047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcctctcctaagtctcCtccagcaagacagatgccta	8	14	2	3			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:135631047C>A	uc004ezy.2	+	3	684	c.514C>A	c.(514-516)CTC>ATC	p.L172I	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					CCTAAGTCTCCTCCAGCAAGA	0.597													A	135631047	C	A	135631047	3	1	270	1	0	0	0	0	1	0	0	0	17155	681	24	5	520	5	VGLL1	23	135631047	Missense_Mutation	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	6655209	135631047	19639513	1391	134891											
F9	2158	broad.mit.edu	37	chrX	138643010	138643010	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgttaaaattacagttgtCgcaggtaaatacacagaaag	10	5	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:138643010C>T	uc004fas.1	+	7	863	c.834C>T	c.(832-834)GTC>GTT	p.V278V	F9_uc004fat.1_Silent_p.V240V	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	278	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			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTACAGTTGTCGCAGGTAAAT	0.353													T	138643010	C	T	138643010	2	4	270	1	0	0	0	0	0	0	0	1	5351	871	31	1		1	F9	23	138643010	Silent	SNP	C	TCGA-HU-A4GN-01A-11D-A25D-08	3011963	138643010	16627550	1392	134892											
MCF2	4168	broad.mit.edu	37	chrX	138678778	138678779	+	Frame_Shift_Ins	INS	-	-	A													actttcaacacgccttttgcINSaaaaaacaatggctttttca							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:138678778_138678779insA	uc004fau.2	-	19	2500_2501	c.2206_2207insT	c.(2206-2208)TGCfs	p.C736fs	MCF2_uc004fav.2_Frame_Shift_Ins_p.C752fs|MCF2_uc011mwl.1_Frame_Shift_Ins_p.C713fs|MCF2_uc010nsh.1_Frame_Shift_Ins_p.C736fs|MCF2_uc011mwm.1_Frame_Shift_Ins_p.C697fs|MCF2_uc011mwn.1_Frame_Shift_Ins_p.C881fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.C796fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.C812fs	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	736	PH.				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			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ACGCCTTTTGCAAAAAACAATG	0.391													A	138678779	-	A	138678778	7	5	270	1	0	1	1	0	0	0	0	0	9378	710	25	0	626	0	MCF2	23	138678778	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	35768	138678778	16591782	1393	134893	695	2									
MCF2	4168	broad.mit.edu	37	chrX	138678779	138678780	+	Frame_Shift_Ins	INS	-	-	A													ctttcaacacgccttttgcaINSaaaaacaatggctttttcat							TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:138678778_138678779C>CA	uc011mwn.1	-	21	2647_2648	c.2641_2642G>TG	c.(2641-2643)tgcfs	p.C881fs	MCF2_uc004fav.3_Frame_Shift_Ins_p.C752fs|MCF2_uc004fau.3_Frame_Shift_Ins_p.C736fs|MCF2_uc010nsh.2_Frame_Shift_Ins_p.C736fs|MCF2_uc011mwm.2_Frame_Shift_Ins_p.C697fs|MCF2_uc011mwl.2_Frame_Shift_Ins_p.C713fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.C812fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.C796fs|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	736					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	Rho guanyl-nucleotide exchange factor activity|protein binding			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)					ACGCCTTTTGCAAAAAACAATG	0.391													A	138678780	-	A	138678779	7	5	270	1	0	1	1	0	0	0	0	0	9378	130	5	0	627	0	MCF2	23	138678779	Frame_Shift_Ins	INS	-	TCGA-HU-A4GN-01A-11D-A25D-08	1	138678779	16591781	1394	134894	695	2									
MAGEA5	4104	broad.mit.edu	37	chrX	151283727	151283727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggtcaggggaggtgcTtggcccctcctcttcttggt	14	12	4	0			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:151283727T>C	uc004ffj.2	-	3	491	c.286A>G	c.(286-288)AGC>GGC	p.S96G		NM_021049	NP_066387	P43359	MAGA5_HUMAN	melanoma antigen family A, 5	96	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGTGCTTGGCCCCTCC	0.537													C	151283727	T	C	151283727	3	2	270	1	0	0	0	0	1	0	0	0	9169	1609	56	3	92	3	MAGEA5	23	151283727	Missense_Mutation	SNP	T	TCGA-HU-A4GN-01A-11D-A25D-08	12604948	151283727	3986833	1395	134895											
FAM58A	92002	broad.mit.edu	37	chrX	152858040	152858040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggccaggtagagcaccGccacggcgatgtgctgggcc	17	13	0	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:152858040G>A	uc010nug.2	-	3	498	c.395C>T	c.(394-396)GCG>GTG	p.A132V				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	194					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGAGCACCGCCACGGCGAT	0.692													A	152858040	G	A	152858040	3	1	270	1	0	0	0	0	1	0	0	0	5590	1087	38	1	173	1	FAM58A	23	152858040	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	1574313	152858040	2412520	1396	134896											
HCFC1	3054	broad.mit.edu	37	chrX	153220523	153220523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccgtctcgtgggtctcGcagggtgggtttgagcagcc	17	11	2	1			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:153220523G>A	uc004fjp.2	-	17	3855	c.3327C>T	c.(3325-3327)TGC>TGT	p.C1109C		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1109	HCF repeat 3.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGGTCTCGCAGGGTGGGT	0.572													A	153220523	G	A	153220523	2	1	270	1	0	0	0	0	0	0	0	1	6991	1079	38	1		1	HCFC1	23	153220523	Silent	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08	362483	153220523	2050037	1397	134897											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967202	4967202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacggatgcagacagtgGgcctaatgctgagatcaatt	12	8	1	2			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrY:4967202G>T	uc004fqo.2	+	2	2317	c.1583G>T	c.(1582-1584)GGG>GTG	p.G528V	PCDH11Y_uc010nwg.1_Missense_Mutation_p.G517V|PCDH11Y_uc004fql.1_Missense_Mutation_p.G517V|PCDH11Y_uc004fqm.1_Missense_Mutation_p.G517V|PCDH11Y_uc004fqn.1_Missense_Mutation_p.G528V|PCDH11Y_uc004fqp.1_Missense_Mutation_p.G299V	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	528	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GCAGACAGTGGGCCTAATGCT	0.473													T	4967202	G	T	4967202	3	4	270	1	0	0	0	0	1	0	0	0	11509	1232	43	5	1625	5	PCDH11Y	24	4967202	Missense_Mutation	SNP	G	TCGA-HU-A4GN-01A-11D-A25D-08		4967202	54406364	1398	134898											
AGRN	375790	broad.mit.edu	37	chr1	978821	978821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgggagatccaggtggcGcgcaaaggaccctgtggtca	18	10	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:978821G>A	uc001ack.1	+	8	1637	c.1587G>A	c.(1585-1587)GCG>GCA	p.A529A		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	529	Kazal-like 5.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(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;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)		TCCAGGTGGCGCGCAAAGGAC	0.687													A	978821	G	A	978821	2	1	271	1	0	0	0	0	0	0	0	1	397	1074	38	1		1	AGRN	1	978821	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		978821	248271800	1	134899											
ACAP3	116983	broad.mit.edu	37	chr1	1235945	1235945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggtgagggtgagggCcccggtggcttcctccacct	14	14	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:1235945C>A	uc001aeb.2	-	6	540	c.466G>T	c.(466-468)GCC>TCC	p.A156S	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.A114S|ACAP3_uc001aec.1_Missense_Mutation_p.A114S	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	156					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						AGGGTGAGGGCCCCGGTGGCT	0.677													A	1235945	C	A	1235945	3	1	271	1	0	0	0	0	1	0	0	0	120	739	26	5	2114	5	ACAP3	1	1235945	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	257124	1235945	248014676	2	134900											
PRAMEF1	65121	broad.mit.edu	37	chr1	12853478	12853478	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggaggagctgcccagggtGctctatctcccactcttcat	10	13	4	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:12853478G>T	uc001auj.1	+	2	205	c.102G>T	c.(100-102)GTG>GTT	p.V34V		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	34											0	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)		TGCCCAGGGTGCTCTATCTCC	0.612													T	12853478	G	T	12853478	2	4	271	1	0	0	0	0	0	0	0	1	12425	1306	46	5		5	PRAMEF1	1	12853478	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	11617533	12853478	236397143	3	134901											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920109	12920109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccttcttcagtgggcaCctggaacagctgatcaggtg	11	11	4	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:12920109C>T	uc001aum.1	+	3	936	c.849C>T	c.(847-849)CAC>CAT	p.H283H		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	283											0	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)		TCAGTGGGCACCTGGAACAGC	0.463													T	12920109	C	T	12920109	2	4	271	1	0	0	0	0	0	0	0	1	12435	506	18	4		4	PRAMEF2	1	12920109	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	66631	12920109	236330512	4	134902											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920128	12920128	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggaacagctgatcaggTgagaaaggattgtgcacttt	12	7	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:12920128T>C	uc001aum.1	+	3	953	c.866_splice	c.e3+2	p.R289_splice		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2												0	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)		GCTGATCAGGTGAGAAAGGAT	0.478													C	12920128	T	C	12920128	5	2	271	1	0	0	0	0	0	0	1	0	12435	1710	59	3	874	3	PRAMEF2	1	12920128	Splice_Site	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	19	12920128	236330493	5	134903											
ZMYM1	79830	broad.mit.edu	37	chr1	35563024	35563025	+	Frame_Shift_Ins	INS	-	-	A													aggtttcctgtgctggttgtINSaaaaaaattctccagaaggg							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:35563024_35563025insA	uc001bym.2	+	5	424_425	c.276_277insA	c.(274-279)TGTAAAfs	p.C92fs	ZMYM1_uc001byl.1_Frame_Shift_Ins_p.C92fs|ZMYM1_uc009vus.1_RNA|ZMYM1_uc001byn.2_Frame_Shift_Ins_p.C92fs|ZMYM1_uc010ohu.1_Frame_Shift_Ins_p.C92fs|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Frame_Shift_Ins_p.C17fs	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	92_93						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGCTGGTTGTAAAAAAATTCT	0.436													A	35563025	-	A	35563024	7	5	271	1	0	1	1	0	0	0	0	0	17696	1644	57	0	286	0	ZMYM1	1	35563024	Frame_Shift_Ins	INS	-	TCGA-HU-A4GP-01A-11D-A25D-08	22642896	35563024	213687597	6	134904	696	2									
ZMYM1	79830	broad.mit.edu	37	chr1	35563025	35563026	+	Frame_Shift_Ins	INS	-	-	A													ggtttcctgtgctggttgtaINSaaaaaattctccagaagggg							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:35563024_35563025T>TA	uc001bym.3	+	3	422_423	c.276_277T>TA	c.(274-279)tgtaaafs	p.C92fs	ZMYM1_uc001byl.1_Frame_Shift_Ins_p.C92fs|ZMYM1_uc009vus.1_Non-coding_Transcript|ZMYM1_uc001byn.3_Frame_Shift_Ins_p.C92fs|ZMYM1_uc010ohu.2_Frame_Shift_Ins_p.C92fs|ZMYM1_uc001byo.3_5'UTR|ZMYM1_uc009vut.3_Frame_Shift_Ins_p.C17fs	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	92						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)				GTGCTGGTTGTAAAAAAATTCT	0.436													A	35563026	-	A	35563025	7	5	271	1	0	1	1	0	0	0	0	0	17696	363	13	0	287	0	ZMYM1	1	35563025	Frame_Shift_Ins	INS	-	TCGA-HU-A4GP-01A-11D-A25D-08	1	35563025	213687596	7	134905	696	2									
ELAVL4	1996	broad.mit.edu	37	chr1	50659454	50659454	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggtctcatatgcccgtccGagctctgcctcaatcaggga	10	13	4	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:50659454G>A	uc001csb.2	+	4	640	c.372G>A	c.(370-372)CCG>CCA	p.P124P	ELAVL4_uc001cry.3_Silent_p.P127P|ELAVL4_uc001crz.3_Silent_p.P124P|ELAVL4_uc001csa.3_Silent_p.P141P|ELAVL4_uc001csc.3_Silent_p.P124P|ELAVL4_uc009vyu.2_Silent_p.P129P|ELAVL4_uc010omz.1_Silent_p.P129P	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	124	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						ATGCCCGTCCGAGCTCTGCCT	0.502													A	50659454	G	A	50659454	2	1	271	1	0	0	0	0	0	0	0	1	5052	1045	37	1		1	ELAVL4	1	50659454	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	15096429	50659454	198591167	8	134906											
PODN	127435	broad.mit.edu	37	chr1	53544373	53544373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcacaggcattggccgCgaagactttgccaccaccta	9	14	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:53544373C>T	uc001cuv.2	+	8	1342	c.1335C>T	c.(1333-1335)CGC>CGT	p.R445R	PODN_uc001cuw.2_Silent_p.R426R|PODN_uc010onr.1_Silent_p.R426R|PODN_uc010ons.1_Silent_p.R303R	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	397	LRR 13.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R445H(1)		ovary(1)|pancreas(1)	2						GCATTGGCCGCGAAGACTTTG	0.642													T	53544373	C	T	53544373	2	4	271	1	0	0	0	0	0	0	0	1	12178	755	27	1		1	PODN	1	53544373	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	2884919	53544373	195706248	9	134907											
LEPR	3953	broad.mit.edu	37	chr1	66085680	66085680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggaaggagtgggaaaacCaaagataattaatagtttca	10	3	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:66085680C>A	uc001dci.2	+	17	2667	c.2465C>A	c.(2464-2466)CCA>CAA	p.P822Q	LEPR_uc001dcg.2_Missense_Mutation_p.P822Q|LEPR_uc001dch.2_Missense_Mutation_p.P822Q|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P822Q|LEPR_uc001dck.2_Missense_Mutation_p.P822Q	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	822	Extracellular (Potential).|Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGGGAAAACCAAAGATAATT	0.328													A	66085680	C	A	66085680	3	1	271	1	0	0	0	0	1	0	0	0	8728	594	21	5	2523	5	LEPR	1	66085680	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	12541307	66085680	183164941	10	134908											
GBP1	2633	broad.mit.edu	37	chr1	89523769	89523769	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctacttgttgcacaaattcGgggtccagctcttcatcttg	9	11	3	0	rs1048410		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:89523769G>T	uc001dmx.2	-	6	1000	c.780C>A	c.(778-780)CCC>CCA	p.P260P		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	260					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCACAAATTCGGGGTCCAGCT	0.458													T	89523769	G	T	89523769	2	4	271	1	0	0	0	0	0	0	0	1	6273	1103	39	5		5	GBP1	1	89523769	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	23438089	89523769	159726852	11	134909											
GFI1	2672	broad.mit.edu	37	chr1	92949026	92949026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagccttcttgcttttgaCgagaaatgagcgcggcatgg	14	8	1	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:92949026C>T	uc001dou.3	-	2	183	c.19G>A	c.(19-21)GTC>ATC	p.V7I	GFI1_uc001dov.3_Missense_Mutation_p.V7I|GFI1_uc001dow.3_Missense_Mutation_p.V7I	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	7					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			large_intestine(1)	1		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)		TTGCTTTTGACGAGAAATGAG	0.627													T	92949026	C	T	92949026	3	4	271	1	0	0	0	0	1	0	0	0	6339	536	19	1	1273	1	GFI1	1	92949026	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	3425257	92949026	156301595	12	134910											
LCE3A	353142	broad.mit.edu	37	chr1	152595412	152595412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaacggcaacggtgagaCctgcggcatctgtggtgact	15	10	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:152595412C>T	uc010pdt.1	-	1	168	c.168G>A	c.(166-168)AGG>AGA	p.R56R		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	56					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACGGTGAGACCTGCGGCATC	0.652													T	152595412	C	T	152595412	2	4	271	1	0	0	0	0	0	0	0	1	8669	506	18	4		4	LCE3A	1	152595412	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	59646386	152595412	96655209	13	134911											
IL6R	3570	broad.mit.edu	37	chr1	154437709	154437709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccggagaggcctcgaccCaccccagtgcttgttcctct	10	17	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:154437709C>T	uc001fez.1	+	10	1697	c.1260C>T	c.(1258-1260)CCC>CCT	p.P420P	IL6R_uc001ffa.1_3'UTR	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	420	Cytoplasmic (Potential).				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 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			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCCTCGACCCACCCCAGTGC	0.622													T	154437709	C	T	154437709	2	4	271	1	0	0	0	0	0	0	0	1	7702	581	21	4		4	IL6R	1	154437709	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	1842297	154437709	94812912	14	134912											
CD5L	922	broad.mit.edu	37	chr1	157803062	157803062	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggcactgctccagggacTgctcctcccctgagcaacga	11	16	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:157803062T>A	uc001frk.3	-	5	1102	c.959A>T	c.(958-960)CAG>CTG	p.Q320L		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	320	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCCAGGGACTGCTCCTCCCC	0.572													A	157803062	T	A	157803062	3	1	271	1	0	0	0	0	1	0	0	0	3027	1580	55	5	92	5	CD5L	1	157803062	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	3365353	157803062	91447559	15	134913											
ATP1B1	481	broad.mit.edu	37	chr1	169096600	169096600	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctacaaagagggcaaacCgtgcattattataaagctca	9	8	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:169096600C>T	uc001gfs.1	+	4		c.642C>T			uc010plp.1_5'Flank			P05026	AT1B1_HUMAN	Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system.						ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	all_hematologic(923;0.208)					GAGGGCAAACCGTGCATTATT	0.378													T	169096600	C	T	169096600	1	4	271	0	1	0	0	0	0	0	0	0	1132	652	23	1		1	ATP1B1	1	169096600	RNA	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	11293538	169096600	80154021	16	134914											
KIF14	9928	broad.mit.edu	37	chr1	200567489	200567489	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catctcagatagttgtggatCttcattcagattaacaaggt	8	7	4	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:200567489C>T	uc010ppk.1	-	14	2864	c.2425G>A	c.(2425-2427)GAT>AAT	p.D809N	KIF14_uc010ppj.1_Missense_Mutation_p.D318N	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	809					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						AGTTGTGGATCTTCATTCAGA	0.328													T	200567489	C	T	200567489	3	4	271	1	0	0	0	0	1	0	0	0	8276	913	32	4	2589	4	KIF14	1	200567489	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	31470889	200567489	48683132	17	134915											
ADORA1	134	broad.mit.edu	37	chr1	203134855	203134855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacaagcccagcatccttAcctacattgccatcttcctc	4	18	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:203134855A>C	uc001gze.1	+	4	1241	c.808A>C	c.(808-810)ACC>CCC	p.T270P	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.T270P|ADORA1_uc010pqg.1_Missense_Mutation_p.T202P|ADORA1_uc009xak.1_Missense_Mutation_p.Y195S|ADORA1_uc010pqh.1_Missense_Mutation_p.T303P	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	270	Helical; Name=7; (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAGCATCCTTACCTACATTGC	0.557													C	203134855	A	C	203134855	3	2	271	1	0	0	0	0	1	0	0	0	326	391	14	5	814	5	ADORA1	1	203134855	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	2567366	203134855	46115766	18	134916											
MARK1	4139	broad.mit.edu	37	chr1	220835358	220835358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttctgtgtccatggagaCgctagacaggatagcctcgt	11	10	1	2	rs141632214		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:220835358C>T	uc001hmn.3	+	18	2835	c.2238C>T	c.(2236-2238)GAC>GAT	p.D746D	MARK1_uc009xdw.2_Silent_p.D747D|MARK1_uc010pun.1_Silent_p.D731D|MARK1_uc001hmm.3_Silent_p.D709D	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	746	KA1.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TCCATGGAGACGCTAGACAGG	0.438													T	220835358	C	T	220835358	2	4	271	1	0	0	0	0	0	0	0	1	9312	535	19	1		1	MARK1	1	220835358	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	17700503	220835358	28415263	19	134917											
OBSCN	84033	broad.mit.edu	37	chr1	228432152	228432152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagctccagctcaaaagtgGgcatggaggtcaaagggtgc	15	8	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:228432152G>T	uc009xez.1	+	11	3405	c.3361G>T	c.(3361-3363)GGC>TGC	p.G1121C	OBSCN_uc001hsn.2_Missense_Mutation_p.G1121C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1121	Ig-like 11.		G -> R.		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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTCAAAAGTGGGCATGGAGGT	0.637													T	228432152	G	T	228432152	3	4	271	1	0	0	0	0	1	0	0	0	10812	1232	43	5	3399	5	OBSCN	1	228432152	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	7596794	228432152	20818469	20	134918											
LYST	1130	broad.mit.edu	37	chr1	235973152	235973152	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaaagagcatcctttgaatCaaagccaccggttcttcggt	9	11	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:235973152C>A	uc001hxj.2	-	5	1141	c.966G>T	c.(964-966)TTG>TTT	p.L322F	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L322F	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	322					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			TCCTTTGAATCAAAGCCACCG	0.443									Chediak-Higashi_syndrome				A	235973152	C	A	235973152	3	1	271	1	0	0	0	0	1	0	0	0	9128	825	29	5	10635	5	LYST	1	235973152	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	7541000	235973152	13277469	21	134919											
RYR2	6262	broad.mit.edu	37	chr1	237947996	237947996	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaaaaagatcaaagttgcAgaactgttagccaacatgcc	8	9	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr1:237947996A>G	uc001hyl.1	+	90	13104	c.12984A>G	c.(12982-12984)GCA>GCG	p.A4328A	RYR2_uc010pya.1_Silent_p.A743A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4328					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TCAAAGTTGCAGAACTGTTAG	0.562													G	237947996	A	G	237947996	2	3	271	1	0	0	0	0	0	0	0	1	13769	175	7	3		3	RYR2	1	237947996	Silent	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	1974844	237947996	11302625	22	134920											
COLEC11	78989	broad.mit.edu	37	chr2	3691470	3691470	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgatggccgcataccTggcgcaagccggcctggccc	14	16	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:3691470T>A	uc002qya.2	+	7	726	c.578T>A	c.(577-579)CTG>CAG	p.L193Q	COLEC11_uc002qxz.2_Missense_Mutation_p.L190Q|COLEC11_uc002qyb.2_Missense_Mutation_p.L169Q|COLEC11_uc002qyc.2_Missense_Mutation_p.L169Q|COLEC11_uc010ewo.2_Missense_Mutation_p.L145Q|COLEC11_uc010ewp.2_Missense_Mutation_p.L167Q|COLEC11_uc010ewq.2_Missense_Mutation_p.L143Q|COLEC11_uc010ewr.2_Missense_Mutation_p.L143Q|COLEC11_uc010ews.2_Missense_Mutation_p.L119Q	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	193	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCCGCATACCTGGCGCAAGCC	0.667													A	3691470	T	A	3691470	3	1	271	1	0	0	0	0	1	0	0	0	3711	1580	55	5	683	5	COLEC11	2	3691470	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08		3691470	239507903	23	134921											
CCDC85A	114800	broad.mit.edu	37	chr2	56419955	56419955	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccctacgtgcgggatgTgggtgacggcagcagcacct	15	13	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:56419955T>A	uc002rzn.2	+	2	1122	c.620T>A	c.(619-621)GTG>GAG	p.V207E		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	207										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGCGGGATGTGGGTGACGGC	0.682													A	56419955	T	A	56419955	3	1	271	1	0	0	0	0	1	0	0	0	2859	1696	59	5	626	5	CCDC85A	2	56419955	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	52728485	56419955	186779418	24	134922											
SLC35F5	80255	broad.mit.edu	37	chr2	114500332	114500332	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtaagtttccccacagttttCagtatggattcttgttcttt	7	8	3	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:114500332C>G	uc002tku.1	-	7	1111	c.687G>C	c.(685-687)CTG>CTC	p.L229L	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.L223L|SLC35F5_uc002tkw.2_Silent_p.L229L	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	229					transport	integral to membrane					0						CCACAGTTTTCAGTATGGATT	0.373													G	114500332	C	G	114500332	2	3	271	1	0	0	0	0	0	0	0	1	14592	813	29	5		5	SLC35F5	2	114500332	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	58080377	114500332	128699041	25	134923											
ACTR3	10096	broad.mit.edu	37	chr2	114699799	114699799	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgcccagatttagtaaaaGaatttaacaagtatgataca	6	6	1	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:114699799G>T	uc002tkx.1	+	8	1041	c.721G>T	c.(721-723)GAA>TAA	p.E241*	ACTR3_uc010yyc.1_Nonsense_Mutation_p.E179*|ACTR3_uc010yyd.1_Nonsense_Mutation_p.E190*	NM_005721	NP_005712	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog	241					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			skin(1)	1						TTTAGTAAAAGAATTTAACAA	0.318													T	114699799	G	T	114699799	4	4	271	1	0	0	0	0	0	1	0	0	212	943	33	5	751	5	ACTR3	2	114699799	Nonsense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	199467	114699799	128499574	26	134924											
ERCC3	2071	broad.mit.edu	37	chr2	128044384	128044384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttttggtggtgtggcccaGcatggagtaggtgctaatgg	16	7	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:128044384G>T	uc002toh.1	-	8	1332	c.1237C>A	c.(1237-1239)CTG>ATG	p.L413M	ERCC3_uc002toe.1_Missense_Mutation_p.L168M|ERCC3_uc002tof.1_Missense_Mutation_p.L349M|ERCC3_uc002tog.1_Missense_Mutation_p.L349M|ERCC3_uc010flx.1_Missense_Mutation_p.L168M	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	413	Helicase ATP-binding.				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			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTGTGGCCCAGCATGGAGTAG	0.592			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	128044384	G	T	128044384	3	4	271	1	0	0	0	0	1	0	0	0	5214	962	34	5	1143	5	ERCC3	2	128044384	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	13344585	128044384	115154989	27	134925											
TBR1	10716	broad.mit.edu	37	chr2	162274729	162274729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggaaatcgggtctatatgCatccggattcccccaacact	8	12	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:162274729C>A	uc002ubw.1	+	3	1167	c.865C>A	c.(865-867)CAT>AAT	p.H289N	TBR1_uc010foy.2_Missense_Mutation_p.H2N	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	289	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GGTCTATATGCATCCGGATTC	0.428													A	162274729	C	A	162274729	3	1	271	1	0	0	0	0	1	0	0	0	15644	710	25	5	875	5	TBR1	2	162274729	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	34230345	162274729	80924644	28	134926											
SCN3A	6328	broad.mit.edu	37	chr2	166003267	166003268	+	Frame_Shift_Ins	INS	-	-	T													cctgatgaggggagcagaatINStttttgtcactggtcagtct							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:166003266_166003267A>AT	uc002ucx.3	-	11	2145_2146	c.1653_1654T>AT	c.(1651-1656)aaattcfs	p.K551fs	SCN3A_uc002ucy.3_Frame_Shift_Ins_p.K551fs|SCN3A_uc002ucz.3_Frame_Shift_Ins_p.K551fs|SCN3A_uc002uda.1_Frame_Shift_Ins_p.K420fs|SCN3A_uc002udb.1_Frame_Shift_Ins_p.K420fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	551						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)	GGGGAGCAGAATTTTTTGTCAC	0.396													T	166003268	-	T	166003267	7	5	271	1	0	1	1	0	0	0	0	0	13918	1490	52	0	4417	0	SCN3A	2	166003267	Frame_Shift_Ins	INS	-	TCGA-HU-A4GP-01A-11D-A25D-08	3728538	166003267	77196106	29	134927											
XIRP2	129446	broad.mit.edu	37	chr2	168104063	168104063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taattcacaccataaatctaAtgttttggaatcaggagaca	6	7	3	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:168104063A>C	uc002udx.2	+	8	6179	c.6161A>C	c.(6160-6162)AAT>ACT	p.N2054T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1879T|XIRP2_uc010fpq.2_Missense_Mutation_p.N1832T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1879					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CATAAATCTAATGTTTTGGAA	0.393													C	168104063	A	C	168104063	3	2	271	1	0	0	0	0	1	0	0	0	17427	101	4	5	6191	5	XIRP2	2	168104063	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	2100796	168104063	75095310	30	134928											
KBTBD10	10324	broad.mit.edu	37	chr2	170366712	170366712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctagccatcctaagattaGgacttcttcttgactgcccg	8	12	3	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:170366712G>A	uc002ueu.1	+	1	501	c.424G>A	c.(424-426)GGA>AGA	p.G142R	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	142					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						CCTAAGATTAGGACTTCTTCT	0.458													A	170366712	G	A	170366712	3	1	271	1	0	0	0	0	1	0	0	0	7990	1001	35	4	426	4	KBTBD10	2	170366712	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	2262649	170366712	72832661	31	134929											
SF3B1	23451	broad.mit.edu	37	chr2	198263275	198263275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagtctaggcagcagaTctttaattggtggagtcatc	14	6	3	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:198263275T>C	uc002uue.2	-	21	3092	c.3044A>G	c.(3043-3045)GAT>GGT	p.D1015G		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1015	HEAT 8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGGCAGCAGATCTTTAATTGG	0.353													C	198263275	T	C	198263275	3	2	271	1	0	0	0	0	1	0	0	0	14149	1435	50	3	890	3	SF3B1	2	198263275	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	27896563	198263275	44936098	32	134930											
TMEM169	92691	broad.mit.edu	37	chr2	216964986	216964986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctggcacaagatctcGtattgcccttgcctcgttct	7	14	3	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:216964986G>A	uc010zjr.1	+	4	941	c.615G>A	c.(613-615)TCG>TCA	p.S205S	TMEM169_uc010zjs.1_Silent_p.S205S|TMEM169_uc002vfw.2_Silent_p.S205S|TMEM169_uc002vfv.3_Silent_p.S205S	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	205	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAGATCTCGTATTGCCCTT	0.507													A	216964986	G	A	216964986	2	1	271	1	0	0	0	0	0	0	0	1	16081	1132	40	1		1	TMEM169	2	216964986	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	18701711	216964986	26234387	33	134931											
COL4A4	1286	broad.mit.edu	37	chr2	227886829	227886829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcctctcatgcctggcGccccaggaaggcctgggatt	13	14	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:227886829G>A	uc010zlt.1	-	43	4805	c.4151C>T	c.(4150-4152)GCG>GTG	p.A1384V		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1384	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)		CATGCCTGGCGCCCCAGGAAG	0.567													A	227886829	G	A	227886829	3	1	271	1	0	0	0	0	1	0	0	0	3693	1087	38	1	941	1	COL4A4	2	227886829	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	10921843	227886829	15312544	34	134932											
COL6A3	1293	broad.mit.edu	37	chr2	238287440	238287440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgccttattcgcctggCtagctcccacacaaaaagtc	7	15	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr2:238287440C>A	uc002vwl.2	-	6	2621	c.2336G>T	c.(2335-2337)AGC>ATC	p.S779I	COL6A3_uc002vwo.2_Missense_Mutation_p.S573I|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.S573I|COL6A3_uc002vwr.2_Missense_Mutation_p.S372I|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	779	VWFA 4.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		ATTCGCCTGGCTAGCTCCCAC	0.547													A	238287440	C	A	238287440	3	1	271	1	0	0	0	0	1	0	0	0	3701	797	28	5	7400	5	COL6A3	2	238287440	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	10400611	238287440	4911933	35	134933											
GRM7	2917	broad.mit.edu	37	chr3	7456772	7456772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaaatgtatggtttgccGaatactgggaggaaaacttc	12	5	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:7456772G>A	uc003bqm.2	+	5	1370	c.1096G>A	c.(1096-1098)GAA>AAA	p.E366K	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E366K|GRM7_uc003bql.2_Missense_Mutation_p.E366K|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	366	Extracellular (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	ATGGTTTGCCGAATACTGGGA	0.408													A	7456772	G	A	7456772	3	1	271	1	0	0	0	0	1	0	0	0	6802	1059	37	1	1114	1	GRM7	3	7456772	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		7456772	190565658	36	134934											
WDR6	11180	broad.mit.edu	37	chr3	49049539	49049539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggtctggtacccagcaaCtgccttagcagacaacaaac	8	13	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:49049539C>T	uc003cvj.2	+	2	800	c.662C>T	c.(661-663)ACT>ATT	p.T221I	WDR6_uc011bbx.1_Missense_Mutation_p.T92I|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.T165I|WDR6_uc011bbz.1_Missense_Mutation_p.T140I	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	191	WD 2.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				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)		TACCCAGCAACTGCCTTAGCA	0.542													T	49049539	C	T	49049539	3	4	271	1	0	0	0	0	1	0	0	0	17307	565	20	4	668	4	WDR6	3	49049539	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	41592767	49049539	148972891	37	134935											
GRM2	2912	broad.mit.edu	37	chr3	51749890	51749890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtcgcctggctggtggtgGaggcaccgggcacaggcaag	19	10	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:51749890G>A	uc010hlv.2	+	4	2340	c.2101G>A	c.(2101-2103)GAG>AAG	p.E701K	GRM2_uc003dbo.3_Missense_Mutation_p.E83K|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	701	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	GCTGGTGGTGGAGGCACCGGG	0.657													A	51749890	G	A	51749890	3	1	271	1	0	0	0	0	1	0	0	0	6797	1175	41	4	2111	4	GRM2	3	51749890	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	2700351	51749890	146272540	38	134936											
TLR9	54106	broad.mit.edu	37	chr3	52257833	52257833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaataggaagcgcagggcatGcaggccggcgaggctggcag	19	9	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:52257833G>T	uc003dda.1	-	2	1133	c.499C>A	c.(499-501)CAT>AAT	p.H167N	TLR9_uc003ddb.2_Missense_Mutation_p.H264N	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	167	LRR 5.|Extracellular (Potential).				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			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CGCAGGGCATGCAGGCCGGCG	0.597													T	52257833	G	T	52257833	3	4	271	1	0	0	0	0	1	0	0	0	15955	1319	46	5	2603	5	TLR9	3	52257833	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	507943	52257833	145764597	39	134937											
CNTN3	5067	broad.mit.edu	37	chr3	74344358	74344358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaagataggctatttgCagagacttgagatggggcca	15	5	0	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:74344358C>A	uc003dpm.1	-	18	2511	c.2431G>T	c.(2431-2433)GCA>TCA	p.A811S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	811	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		AGGCTATTTGCAGAGACTTGA	0.383													A	74344358	C	A	74344358	3	1	271	1	0	0	0	0	1	0	0	0	3642	710	25	5	675	5	CNTN3	3	74344358	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	22086525	74344358	123678072	40	134938											
IMPG2	50939	broad.mit.edu	37	chr3	100972610	100972610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagatcttcagtttggtgaCgcaaaactcctctcactgag	8	11	3	3	rs139255481	byFrequency	TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:100972610C>T	uc003duq.1	-	11	1372	c.1169G>A	c.(1168-1170)CGT>CAT	p.R390H	IMPG2_uc011bhe.1_Missense_Mutation_p.R253H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	390	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AGTTTGGTGACGCAAAACTCC	0.393													T	100972610	C	T	100972610	3	4	271	1	0	0	0	0	1	0	0	0	7729	536	19	1	2592	1	IMPG2	3	100972610	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	26628252	100972610	97049820	41	134939											
ZIC1	7545	broad.mit.edu	37	chr3	147128842	147128842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggcaaggtcttcgcgCgctccgagaatttaaagatc	12	10	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:147128842C>T	uc003ewe.2	+	1	1662	c.943C>T	c.(943-945)CGC>TGC	p.R315C		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	315	C2H2-type 3.				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			ovary(1)|central_nervous_system(1)	2						GGTCTTCGCGCGCTCCGAGAA	0.562													T	147128842	C	T	147128842	3	4	271	1	0	0	0	0	1	0	0	0	17675	768	27	1	945	1	ZIC1	3	147128842	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	46156232	147128842	50893588	42	134940											
KCNMB2	10242	broad.mit.edu	37	chr3	178560462	178560462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctatatacctaaatgtGgaaaaaattttgaagaatcc	6	7	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:178560462G>A	uc003fjd.2	+	5	788	c.445G>A	c.(445-447)GGA>AGA	p.G149R	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.G149R|KCNMB2_uc003fjf.2_Missense_Mutation_p.G149R|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	149	Extracellular (Potential).				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			ovary(1)	1	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)			ACCTAAATGTGGAAAAAATTT	0.403													A	178560462	G	A	178560462	3	1	271	1	0	0	0	0	1	0	0	0	8075	1349	47	4	459	4	KCNMB2	3	178560462	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	31431620	178560462	19461968	43	134941											
ABCC5	10057	broad.mit.edu	37	chr3	183660618	183660618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtacctcatctctgcGttctcaaaggtcacctctcc	6	16	6	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:183660618G>A	uc003fmg.2	-	25	3756	c.3591C>T	c.(3589-3591)AAC>AAT	p.N1197N	ABCC5_uc011bqt.1_Silent_p.N725N|ABCC5_uc010hxl.2_Silent_p.N1154N	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1197	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCATCTCTGCGTTCTCAAAGG	0.527													A	183660618	G	A	183660618	2	1	271	1	0	0	0	0	0	0	0	1	56	1136	40	1		1	ABCC5	3	183660618	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	5100156	183660618	14361812	44	134942											
MAP3K13	9175	broad.mit.edu	37	chr3	185195129	185195129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagtggagatgactccTcagaagaggaagaaggggaa	15	6	2	6			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:185195129T>A	uc010hyf.2	+	13	2712	c.2446T>A	c.(2446-2448)TCA>ACA	p.S816T	MAP3K13_uc011brt.1_Missense_Mutation_p.S609T|MAP3K13_uc011bru.1_Missense_Mutation_p.S672T|MAP3K13_uc003fpi.2_Missense_Mutation_p.S816T|MAP3K13_uc010hyg.2_Missense_Mutation_p.S506T	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	816	Acidic.				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			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGATGACTCCTCAGAAGAGGA	0.408													A	185195129	T	A	185195129	3	1	271	1	0	0	0	0	1	0	0	0	9247	1551	54	5	2488	5	MAP3K13	3	185195129	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	1534511	185195129	12827301	45	134943											
MUC4	4585	broad.mit.edu	37	chr3	195492218	195492218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggagacctggttccagcccCagctgggccaccgaggctgg	15	14	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr3:195492218C>G	uc011bto.1	-	10	13797	c.13337G>C	c.(13336-13338)TGG>TCG	p.W4446S	MUC4_uc003fuz.2_Missense_Mutation_p.W172S|MUC4_uc003fva.2_Missense_Mutation_p.W54S|MUC4_uc003fvb.2_Missense_Mutation_p.W90S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.W90S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.W54S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.W138S|MUC4_uc011bti.1_Missense_Mutation_p.W138S|MUC4_uc011btj.1_Missense_Mutation_p.W315S|MUC4_uc011btk.1_Missense_Mutation_p.W54S|MUC4_uc011btl.1_Missense_Mutation_p.W83S|MUC4_uc011btm.1_Missense_Mutation_p.W263S|MUC4_uc011btn.1_Missense_Mutation_p.W54S|MUC4_uc003fvo.2_Missense_Mutation_p.W338S|MUC4_uc003fvp.2_Missense_Mutation_p.W287S|MUC4_uc010hzu.1_Missense_Mutation_p.W1186S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1331	AMOP.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		GTTCCAGCCCCAGCTGGGCCA	0.632													G	195492218	C	G	195492218	3	3	271	1	0	0	0	0	1	0	0	0	9978	595	21	5	2585	5	MUC4	3	195492218	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	10297089	195492218	2530212	46	134944											
HTT	3064	broad.mit.edu	37	chr4	3240697	3240697	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtccaccagcccgtgggtCgcggcgatgtatcctctctg	13	15	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:3240697C>T	uc011bvq.1	+	67	9358	c.9213C>T	c.(9211-9213)GTC>GTT	p.V3071V		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	3069					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCCGTGGGTCGCGGCGATGT	0.592													T	3240697	C	T	3240697	2	4	271	1	0	0	0	0	0	0	0	1	7457	871	31	1		1	HTT	4	3240697	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		3240697	187913579	47	134945											
GABRB1	2560	broad.mit.edu	37	chr4	47405587	47405587	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaactcaggagcgtatccaCgactgtcactaagttttcgt	8	11	3	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:47405587C>T	uc003gxh.2	+	7	1068	c.694C>T	c.(694-696)CGA>TGA	p.R232*	GABRB1_uc011bze.1_Nonsense_Mutation_p.R162*	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	232	Extracellular (Probable).				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			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCGTATCCACGACTGTCACT	0.403													T	47405587	C	T	47405587	4	4	271	1	0	0	0	0	0	1	0	0	6166	528	19	1	720	1	GABRB1	4	47405587	Nonsense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	44164890	47405587	143748689	48	134946											
FAT4	79633	broad.mit.edu	37	chr4	126237908	126237908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggtcctttccagcgcGcccacctaccccaccgaagt	9	18	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:126237908G>A	uc003ifj.3	+	1	342	c.342G>A	c.(340-342)GCG>GCA	p.A114A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	114	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTCCAGCGCGCCCACCTACC	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	126237908	G	A	126237908	2	1	271	1	0	0	0	0	0	0	0	1	5692	1074	38	1		1	FAT4	4	126237908	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	78832321	126237908	64916368	49	134947											
ELF2	1998	broad.mit.edu	37	chr4	139994712	139994712	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcattactgctgtgaactGatgcttccactggaggaaaa	11	8	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:139994712G>A	uc003ihp.1	-	4	454	c.248C>T	c.(247-249)TCA>TTA	p.S83L	ELF2_uc003ihm.1_Missense_Mutation_p.S23L|ELF2_uc003ihn.1_Missense_Mutation_p.S23L|ELF2_uc003iho.1_Missense_Mutation_p.S23L|ELF2_uc010ioh.2_Missense_Mutation_p.S23L	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	83					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|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2	all_hematologic(180;0.162)					GCTGTGAACTGATGCTTCCAC	0.363													A	139994712	G	A	139994712	3	1	271	1	0	0	0	0	1	0	0	0	5054	1294	45	4	1557	4	ELF2	4	139994712	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	13756804	139994712	51159564	50	134948											
PRSS48	345062	broad.mit.edu	37	chr4	152201019	152201020	+	Frame_Shift_Ins	INS	-	-	CAGGT													tgcagggcgctggccttggcINSaggtcagcctacactttgac					rs71901196	by1000genomes	TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:152201018_152201019G>GCAGGT	uc011cif.2	+	1	123_124	c.123_124G>GCAGGT	c.(121-126)tggcagfs	p.W41fs	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	41	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGCCTTGGCAGGTCAGCCT	0.53													CAGGT	152201020	-	CAGGT	152201019	7	5	271	1	0	1	1	0	0	0	0	0	12630	711	25	0	130	0	PRSS48	4	152201019	Frame_Shift_Ins	INS	-	TCGA-HU-A4GP-01A-11D-A25D-08	12206307	152201019	38953257	51	134949											
RBM46	166863	broad.mit.edu	37	chr4	155719267	155719267	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggagctattcccaaggaaaaGaagaaagaagaaattttaga	10	4	0	5			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:155719267G>T	uc003ioo.2	+	3	629	c.456G>T	c.(454-456)AAG>AAT	p.K152N	RBM46_uc011cim.1_Missense_Mutation_p.K152N|RBM46_uc003iop.1_Missense_Mutation_p.K152N	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	152	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAAGGAAAAGAAGAAAGAAG	0.328													T	155719267	G	T	155719267	3	4	271	1	0	0	0	0	1	0	0	0	13140	933	33	5	462	5	RBM46	4	155719267	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	3518248	155719267	35435009	52	134950											
FSTL5	56884	broad.mit.edu	37	chr4	162307121	162307121	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctctttatcatcttgaccttCccagaagagagctccacaaa	5	13	3	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:162307121C>A	uc003iqh.2	-	16	2758	c.2322G>T	c.(2320-2322)GGG>GGT	p.G774G	FSTL5_uc003iqi.2_Silent_p.G773G|FSTL5_uc010iqv.2_Silent_p.G764G|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	774						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTGACCTTCCCAGAAGAGA	0.458													A	162307121	C	A	162307121	2	1	271	1	0	0	0	0	0	0	0	1	6080	842	30	5		5	FSTL5	4	162307121	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	6587854	162307121	28847155	53	134951											
TMEM192	201931	broad.mit.edu	37	chr4	166021837	166021837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttgatcggtagatcaAgttatagcctcggtttctga	10	8	2	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:166021837A>G	uc003iqz.3	-	3	481	c.382T>C	c.(382-384)TTG>CTG	p.L128L		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	transmembrane protein 192	128	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CGGTAGATCAAGTTATAGCCT	0.423													G	166021837	A	G	166021837	2	3	271	1	0	0	0	0	0	0	0	1	16112	69	3	3		3	TMEM192	4	166021837	Silent	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	3714716	166021837	25132439	54	134952											
FAT1	2195	broad.mit.edu	37	chr4	187541092	187541092	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtctccgtctgtgatgctGtagaacactttcaggccttc	11	11	3	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr4:187541092G>T	uc003izf.2	-	10	6836	c.6648C>A	c.(6646-6648)TAC>TAA	p.Y2216*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2216	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTGTGATGCTGTAGAACACTT	0.507										HNSCC(5;0.00058)			T	187541092	G	T	187541092	4	4	271	1	0	0	0	0	0	1	0	0	5689	1372	48	5	7190	5	FAT1	4	187541092	Nonsense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	21519255	187541092	3613184	55	134953											
CDH18	1016	broad.mit.edu	37	chr5	19838884	19838884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctttccaacatactgaGgatctggtcccatatgttct	6	11	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:19838884G>A	uc003jgc.2	-	2	589	c.212C>T	c.(211-213)CCT>CTT	p.P71L	CDH18_uc003jgd.2_Missense_Mutation_p.P71L|CDH18_uc011cnm.1_Missense_Mutation_p.P71L	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	71	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACATACTGAGGATCTGGTCC	0.383													A	19838884	G	A	19838884	3	1	271	1	0	0	0	0	1	0	0	0	3103	1000	35	4	2204	4	CDH18	5	19838884	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		19838884	161076376	56	134954											
ATG10	83734	broad.mit.edu	37	chr5	81474361	81474361	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagttcatgagtgctaTaagatgcgactgctacaggg	14	6	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:81474361T>A	uc003khs.2	+	6	837	c.408T>A	c.(406-408)TAT>TAA	p.Y136*	ATG10_uc003khr.2_Nonsense_Mutation_p.Y136*|ATG10_uc010jas.2_Nonsense_Mutation_p.Y100*	NM_001131028	NP_001124500	Q9H0Y0	ATG10_HUMAN	APG10 autophagy 10-like	136					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding				0		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		ATGAGTGCTATAAGATGCGAC	0.378													A	81474361	T	A	81474361	4	1	271	1	0	0	0	0	0	1	0	0	1089	1413	49	5	422	5	ATG10	5	81474361	Nonsense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	61635477	81474361	99440899	57	134955											
VCAN	1462	broad.mit.edu	37	chr5	82835937	82835937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaagaaatccagactaGtagaccacaaaccataactg	8	10	0	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:82835937G>T	uc003kii.3	+	8	7471	c.7115G>T	c.(7114-7116)AGT>ATT	p.S2372I	VCAN_uc003kij.3_Missense_Mutation_p.S1385I|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1036I	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2372	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		ATCCAGACTAGTAGACCACAA	0.458													T	82835937	G	T	82835937	3	4	271	1	0	0	0	0	1	0	0	0	17135	1029	36	5	7141	5	VCAN	5	82835937	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1361576	82835937	98079323	58	134956											
VCAN	1462	broad.mit.edu	37	chr5	82837419	82837419	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccccacaggattcttttaAggaaattcatgtaaatattg	7	7	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:82837419A>T	uc003kii.3	+	8	8953	c.8597A>T	c.(8596-8598)AAG>ATG	p.K2866M	VCAN_uc003kij.3_Missense_Mutation_p.K1879M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.K1530M	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2866	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GATTCTTTTAAGGAAATTCAT	0.453													T	82837419	A	T	82837419	3	4	271	1	0	0	0	0	1	0	0	0	17135	72	3	5	8623	5	VCAN	5	82837419	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	1482	82837419	98077841	59	134957											
TTC37	9652	broad.mit.edu	37	chr5	94857966	94857966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgcttctcctaacgattcCcaacaattgaagtcctttgg	6	11	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:94857966C>A	uc003klb.2	-	19	2073	c.1803G>T	c.(1801-1803)TGG>TGT	p.W601C	TTC37_uc010jbf.1_Missense_Mutation_p.W553C	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	601	TPR 10.						binding			ovary(3)|pancreas(1)	4						CTAACGATTCCCAACAATTGA	0.408													A	94857966	C	A	94857966	3	1	271	1	0	0	0	0	1	0	0	0	16702	624	22	5	2991	5	TTC37	5	94857966	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	12020547	94857966	86057294	60	134958											
TRIM36	55521	broad.mit.edu	37	chr5	114473223	114473223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttagaggagtcaattgCtttcaaaacagatgatttcc	7	7	3	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:114473223C>T	uc003kqs.2	-	6	1467	c.958G>A	c.(958-960)GCA>ACA	p.A320T	TRIM36_uc011cwc.1_Missense_Mutation_p.A308T|TRIM36_uc003kqt.2_Missense_Mutation_p.A165T	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	320	Potential.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			ovary(4)|lung(2)|breast(2)	8		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)		GAGTCAATTGCTTTCAAAACA	0.368													T	114473223	C	T	114473223	3	4	271	1	0	0	0	0	1	0	0	0	16507	797	28	2	1248	2	TRIM36	5	114473223	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	19615257	114473223	66442037	61	134959											
TIFAB	497189	broad.mit.edu	37	chr5	134785360	134785360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctccaggtacctcagCgtcagcccattgacccacac	7	18	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:134785360C>T	uc003law.3	-	2	471	c.270G>A	c.(268-270)ACG>ACA	p.T90T	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	90	FHA.										0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTACCTCAGCGTCAGCCCAT	0.622													T	134785360	C	T	134785360	2	4	271	1	0	0	0	0	0	0	0	1	15892	755	27	1		1	TIFAB	5	134785360	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	20312137	134785360	46129900	62	134960											
PCDHA11	56138	broad.mit.edu	37	chr5	140249772	140249772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccagtacgagaggacGctcagcccagcacggtcatt	10	16	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:140249772G>A	uc003lia.2	+	1	1942	c.1084G>A	c.(1084-1086)GCT>ACT	p.A362T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A362T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	362	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGAGGACGCTCAGCCCAG	0.572													A	140249772	G	A	140249772	3	1	271	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1086	1	PCDHA11	5	140249772	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	5464412	140249772	40665488	63	134961											
PCDHA11	56138	broad.mit.edu	37	chr5	140249918	140249918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcgttggtgctggacagCgccctggaccgcgagaacgt	14	12	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:140249918C>T	uc003lia.2	+	1	2088	c.1230C>T	c.(1228-1230)AGC>AGT	p.S410S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S410S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	410	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGCGCCCTGGACC	0.617													T	140249918	C	T	140249918	2	4	271	1	0	0	0	0	0	0	0	1	11521	767	27	1		1	PCDHA11	5	140249918	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	146	140249918	40665342	64	134962											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720422	140720422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgggcgaggtgcgcacGgcgcgagccctgctggacag	17	14	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:140720422G>A	uc003ljk.1	+	1	2069	c.1884G>A	c.(1882-1884)ACG>ACA	p.T628T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.T628T	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	628	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682													A	140720422	G	A	140720422	2	1	271	1	0	0	0	0	0	0	0	1	11554	1103	39	1		1	PCDHGA2	5	140720422	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	470504	140720422	40194838	65	134963											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811189	140811189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtatgtggacgacaaggCggcccaagttttcaaactag	12	10	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:140811189C>T	uc003lkt.1	+	1	1032	c.863C>T	c.(862-864)GCG>GTG	p.A288V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A288V	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	288	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGACAAGGCGGCCCAAGTT	0.512													T	140811189	C	T	140811189	3	4	271	1	0	0	0	0	1	0	0	0	11553	768	27	1	865	1	PCDHGA12	5	140811189	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	90767	140811189	40104071	66	134964											
SH3TC2	79628	broad.mit.edu	37	chr5	148411175	148411175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggaggaagctggaacaCtcagtctgcttatcacttcc	11	10	3	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:148411175C>A	uc003lpu.2	-	9	1229	c.1077G>T	c.(1075-1077)GAG>GAT	p.E359D	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.E352D|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E244D	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	359							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGAACACTCAGTCTGCT	0.537													A	148411175	C	A	148411175	3	1	271	1	0	0	0	0	1	0	0	0	14262	564	20	5	2825	5	SH3TC2	5	148411175	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	7599986	148411175	32504085	67	134965											
GRIA1	2890	broad.mit.edu	37	chr5	152870498	152870498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtttcctaggcgcggtagTaggtgccaatttccccaaca	11	12	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:152870498T>C	uc003lva.3	+	1	415	c.50T>C	c.(49-51)GTA>GCA	p.V17A	GRIA1_uc003luy.3_Missense_Mutation_p.V17A|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.V17A|GRIA1_uc011dcx.1_5'Flank|GRIA1_uc011dcy.1_5'Flank|GRIA1_uc011dcz.1_5'Flank|GRIA1_uc010jia.1_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	17					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			ovary(4)|skin(2)	6		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)	GGCGCGGTAGTAGGTGCCAAT	0.512													C	152870498	T	C	152870498	3	2	271	1	0	0	0	0	1	0	0	0	6767	1638	57	3	52	3	GRIA1	5	152870498	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	4459323	152870498	28044762	68	134966											
EBF1	1879	broad.mit.edu	37	chr5	158223440	158223440	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcacagtcgcacctcccgtCgtccatccttcactcgggct	7	18	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:158223440C>T	uc010jip.2	-	9	1124	c.822G>A	c.(820-822)ACG>ACA	p.T274T	EBF1_uc011ddw.1_Silent_p.T142T|EBF1_uc011ddx.1_Silent_p.T275T|EBF1_uc003lxl.3_Silent_p.T243T	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	274	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	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)			CACCTCCCGTCGTCCATCCTT	0.468			T	HMGA2	lipoma								T	158223440	C	T	158223440	2	4	271	1	0	0	0	0	0	0	0	1	4880	871	31	1		1	EBF1	5	158223440	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	5352942	158223440	22691820	69	134967											
GABRA1	2554	broad.mit.edu	37	chr5	161324161	161324161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaagaaaaacaacacttaCgctccaacagcaaccagcta	4	12	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr5:161324161C>T	uc010jiw.2	+	11	1572	c.1104C>T	c.(1102-1104)TAC>TAT	p.Y368Y	GABRA1_uc010jix.2_Silent_p.Y368Y|GABRA1_uc010jiy.2_Silent_p.Y368Y|GABRA1_uc003lyx.3_Silent_p.Y368Y|GABRA1_uc010jiz.2_Silent_p.Y368Y|GABRA1_uc010jja.2_Silent_p.Y368Y|GABRA1_uc010jjb.2_Silent_p.Y368Y	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	368	Cytoplasmic (Probable).				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			ovary(2)|pancreas(1)	3	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)	ACAACACTTACGCTCCAACAG	0.423													T	161324161	C	T	161324161	2	4	271	1	0	0	0	0	0	0	0	1	6160	547	19	1		1	GABRA1	5	161324161	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	3100721	161324161	19591099	70	134968											
RREB1	6239	broad.mit.edu	37	chr6	7182219	7182219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatgatgtcggcggtcatGagtgtagggaaggtcacaga	15	7	2	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:7182219G>A	uc003mxc.2	+	4	465	c.75G>A	c.(73-75)ATG>ATA	p.M25I	RREB1_uc010jnw.2_Missense_Mutation_p.M25I|RREB1_uc003mxb.2_Missense_Mutation_p.M25I|RREB1_uc010jnx.2_Missense_Mutation_p.M25I|RREB1_uc003mxd.2_Missense_Mutation_p.M25I	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	25					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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGCGGTCATGAGTGTAGGGA	0.547													A	7182219	G	A	7182219	3	1	271	1	0	0	0	0	1	0	0	0	13679	1290	45	4	77	4	RREB1	6	7182219	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		7182219	163932848	71	134969											
ZNF192	7745	broad.mit.edu	37	chr6	28121579	28121579	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtcaggccttattgaAcatcagagaatccacactgg	9	10	2	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:28121579A>G	uc003nkn.1	+	6	1705	c.1521A>G	c.(1519-1521)GAA>GAG	p.E507E	ZNF192_uc010jqx.1_Silent_p.E507E|ZNF192_uc010jqy.1_Silent_p.E320E|ZNF192_uc011dkz.1_Silent_p.E320E	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	507	C2H2-type 7.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCCTTATTGAACATCAGAGAA	0.453													G	28121579	A	G	28121579	2	3	271	1	0	0	0	0	0	0	0	1	17753	40	2	3		3	ZNF192	6	28121579	Silent	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	20939360	28121579	142993488	72	134970											
OR12D2	26529	broad.mit.edu	37	chr6	29365024	29365024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatattaagccattgcTaaagctggcctgtgggaaca	11	8	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:29365024T>C	uc003nmf.3	+	1	609	c.548T>C	c.(547-549)CTA>CCA	p.L183P		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AAGCCATTGCTAAAGCTGGCC	0.478													C	29365024	T	C	29365024	3	2	271	1	0	0	0	0	1	0	0	0	10931	1522	53	3	550	3	OR12D2	6	29365024	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	1243445	29365024	141750043	73	134971											
GPSM3	63940	broad.mit.edu	37	chr6	32159232	32159232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactccaggagctcttgccCccctggagggaggggaggct	15	13	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:32159232C>T	uc003oay.3	-	4	787	c.394G>A	c.(394-396)GGG>AGG	p.G132R	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.G109R|GPSM3_uc003oaz.2_Missense_Mutation_p.G132R	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	132	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						AGCTCTTGCCCCCCTGGAGGG	0.647													T	32159232	C	T	32159232	3	4	271	1	0	0	0	0	1	0	0	0	6736	623	22	4	92	4	GPSM3	6	32159232	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	2794208	32159232	138955835	74	134972											
KIFC1	3833	broad.mit.edu	37	chr6	33374045	33374045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaatgaacggtcatcaCgcagccacagtgtattccag	9	13	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:33374045C>T	uc003oef.3	+	8	2059	c.1609C>T	c.(1609-1611)CGC>TGC	p.R537C	KIFC1_uc011drf.1_Missense_Mutation_p.R529C	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	537	Kinesin-motor.				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				0						ACGGTCATCACGCAGCCACAG	0.627													T	33374045	C	T	33374045	3	4	271	1	0	0	0	0	1	0	0	0	8312	536	19	1	1639	1	KIFC1	6	33374045	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	1214813	33374045	137741022	75	134973											
DNAH8	1769	broad.mit.edu	37	chr6	38899592	38899592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatttatgtaggtgaaAgtcggtgataaggaatgtga	14	1	0	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:38899592A>G	uc003ooe.1	+	74	11229	c.10629A>G	c.(10627-10629)AAA>AAG	p.K3543K	DNAH8_uc003oog.1_5'UTR|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TGTAGGTGAAAGTCGGTGATA	0.214													G	38899592	A	G	38899592	2	3	271	1	0	0	0	0	0	0	0	1	4607	69	3	3		3	DNAH8	6	38899592	Silent	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	5525547	38899592	132215475	76	134974											
DAAM2	23500	broad.mit.edu	37	chr6	39869752	39869752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcaagcgcagccgcaagcGatcagggagccaggccctgg	15	14	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:39869752G>A	uc003oow.2	+	25	3302	c.3146G>A	c.(3145-3147)CGA>CAA	p.R1049Q	DAAM2_uc003oox.2_Missense_Mutation_p.R1048Q	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1049					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGCCGCAAGCGATCAGGGAGC	0.607													A	39869752	G	A	39869752	3	1	271	1	0	0	0	0	1	0	0	0	4216	1058	37	1	3237	1	DAAM2	6	39869752	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	970160	39869752	131245315	77	134975											
PEX6	5190	broad.mit.edu	37	chr6	42941748	42941748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctgcatacctgggcaGtttctctggacttccttcca	10	13	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:42941748G>A	uc003otf.2	-	3	1216	c.1123C>T	c.(1123-1125)CTG>TTG	p.L375L	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	375					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			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)			TACCTGGGCAGTTTCTCTGGA	0.512													A	42941748	G	A	42941748	2	1	271	1	0	0	0	0	0	0	0	1	11750	1020	36	4		4	PEX6	6	42941748	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	3071996	42941748	128173319	78	134976											
ORC3L	23595	broad.mit.edu	37	chr6	88376828	88376828	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtggcaagactaacatGgggaggctgctagaaagcaa	13	8	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:88376828G>A	uc003pmh.2	+	20	2167	c.2123G>A	c.(2122-2124)TGG>TAG	p.W708*	ORC3L_uc003pmg.2_Nonsense_Mutation_p.W709*|ORC3L_uc003pmi.2_Nonsense_Mutation_p.W671*|ORC3L_uc011dzo.1_Nonsense_Mutation_p.W565*|ORC3L_uc011dzp.1_Nonsense_Mutation_p.W565*|ORC3L_uc003pmj.1_RNA	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	708					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		AGACTAACATGGGGAGGCTGC	0.398													A	88376828	G	A	88376828	4	1	271	1	0	0	0	0	0	1	0	0	11263	1357	47	4	2204	4	ORC3L	6	88376828	Nonsense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	45435080	88376828	82738239	79	134977											
HIVEP2	3097	broad.mit.edu	37	chr6	143095415	143095416	+	Frame_Shift_Ins	INS	-	-	T													agggttcagacttgaaatctINStttttctaggataaccacca							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:143095414_143095415C>CT	uc003qjd.3	-	4	1204_1205	c.461_462G>AG	c.(460-462)aagfs	p.K154fs		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	154					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)		GACTTGAAATCTTTTTTCTAGG	0.47													T	143095416	-	T	143095415	7	5	271	1	0	1	1	0	0	0	0	0	7187	1609	56	0	6903	0	HIVEP2	6	143095415	Frame_Shift_Ins	INS	-	TCGA-HU-A4GP-01A-11D-A25D-08	54718587	143095415	28019652	80	134978											
UTRN	7402	broad.mit.edu	37	chr6	145124231	145124231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagttgtttcttttcgggtcGaacagcaaaaggtcacaaat	10	7	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr6:145124231G>A	uc003qkt.2	+	64	9397	c.9305G>A	c.(9304-9306)CGA>CAA	p.R3102Q		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3102	Interaction with SYNM.|ZZ-type.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCGGGTCGAACAGCAAAA	0.338													A	145124231	G	A	145124231	3	1	271	1	0	0	0	0	1	0	0	0	17100	1058	37	1	9559	1	UTRN	6	145124231	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	2028816	145124231	25990836	81	134979											
ZFAND2A	90637	broad.mit.edu	37	chr7	1197307	1197307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaccttctggaatgcaaaCggacacttatgtgcagcgta	9	9	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:1197307C>T	uc003skc.2	-	3	436	c.135G>A	c.(133-135)CCG>CCA	p.P45P	ZFAND2A_uc003skd.3_Silent_p.P45P|uc003skf.1_5'Flank	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	45	AN1-type 1.					cytoplasm|nucleus	zinc ion binding			ovary(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GGAATGCAAACGGACACTTAT	0.284													T	1197307	C	T	1197307	2	4	271	1	0	0	0	0	0	0	0	1	17624	523	19	1		1	ZFAND2A	7	1197307	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		1197307	157941356	82	134980											
SDK1	221935	broad.mit.edu	37	chr7	4008964	4008964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggggggtctacagatcgCgcccgtcttcatccaggatg	13	12	3	1	rs146705640	by1000genomes	TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:4008964C>T	uc003smx.2	+	11	1761	c.1622C>T	c.(1621-1623)GCG>GTG	p.A541V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	541	Ig-like C2-type 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CTACAGATCGCGCCCGTCTTC	0.552													T	4008964	C	T	4008964	3	4	271	1	0	0	0	0	1	0	0	0	13968	768	27	1	1664	1	SDK1	7	4008964	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	2811657	4008964	155129699	83	134981											
FBXL18	80028	broad.mit.edu	37	chr7	5521433	5521433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggttcggcggttcctcGgccactctgctcttaaataa	9	13	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:5521433G>A	uc003son.3	-	5	2224	c.2130C>T	c.(2128-2130)GCC>GCT	p.A710A		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	Error:Variant_position_missing_in_Q96ME1_after_alignment										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGGTTCCTCGGCCACTCTGC	0.637													A	5521433	G	A	5521433	2	1	271	1	0	0	0	0	0	0	0	1	5714	1103	39	1		1	FBXL18	7	5521433	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1512469	5521433	153617230	84	134982											
C7orf28A	51622	broad.mit.edu	37	chr7	5949682	5949682	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaggagtggattagaacaaGatgacatgagaattttatac	11	4	0	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:5949682G>A	uc003spf.2	+	8	805	c.715G>A	c.(715-717)GAT>AAT	p.D239N		NM_015622	NP_056437	P86791	CCZ1_HUMAN	hypothetical protein LOC51622	239						lysosomal membrane					0		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)		ATTAGAACAAGATGACATGAG	0.408													A	5949682	G	A	5949682	3	1	271	1	0	0	0	0	1	0	0	0	2383	942	33	4	745	4	C7orf28A	7	5949682	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	428249	5949682	153188981	85	134983											
C7orf28B	221960	broad.mit.edu	37	chr7	6854460	6854460	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtataaaattctcatgtcatCttgttctaatccactcctgc	4	11	4	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:6854460C>T	uc003sqx.1	-	8	748	c.715G>A	c.(715-717)GAT>AAT	p.D239N	C7orf28B_uc011jxd.1_Missense_Mutation_p.D96N	NM_198097	NP_932765	P86791	CCZ1_HUMAN	hypothetical protein LOC221960	239						lysosomal membrane					0		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)		CTCATGTCATCTTGTTCTAAT	0.408													T	6854460	C	T	6854460	3	4	271	1	0	0	0	0	1	0	0	0	2384	913	32	4	765	4	C7orf28B	7	6854460	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	904778	6854460	152284203	86	134984											
FERD3L	222894	broad.mit.edu	37	chr7	19184535	19184535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagctcggtcatgaaggAgatatagacgatggccaggc	14	8	1	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:19184535A>G	uc003suo.1	-	1	510	c.451T>C	c.(451-453)TCC>CCC	p.S151P	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	151	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						GTCATGAAGGAGATATAGACG	0.582													G	19184535	A	G	19184535	3	3	271	1	0	0	0	0	1	0	0	0	5816	304	11	3	53	3	FERD3L	7	19184535	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	12330075	19184535	139954128	87	134985											
ABCB5	340273	broad.mit.edu	37	chr7	20698214	20698214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattgctcgtgccttagttcGaaaccccaagattctgattt	7	10	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:20698214G>A	uc003suw.3	+	5	833	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	ABCB5_uc010kuh.2_Missense_Mutation_p.R541Q|ABCB5_uc003suv.3_Missense_Mutation_p.R96Q|ABCB5_uc011jyi.1_Missense_Mutation_p.R96Q	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	96	ABC transporter 1.|Extracellular (Potential).				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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						GCCTTAGTTCGAAACCCCAAG	0.438													A	20698214	G	A	20698214	3	1	271	1	0	0	0	0	1	0	0	0	44	1058	37	1	1672	1	ABCB5	7	20698214	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1513679	20698214	138440449	88	134986											
TRA2A	29896	broad.mit.edu	37	chr7	23556109	23556109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgagagtgggatctggatCgagtgtaacgtctatgagaa	15	4	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:23556109C>T	uc003swi.2	-	3	423	c.209G>A	c.(208-210)CGA>CAA	p.R70Q	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	70	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						GGATCTGGATCGAGTGTAACG	0.443													T	23556109	C	T	23556109	3	4	271	1	0	0	0	0	1	0	0	0	16430	884	31	1	663	1	TRA2A	7	23556109	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	2857895	23556109	135582554	89	134987											
BMPER	168667	broad.mit.edu	37	chr7	34182863	34182863	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtgacagacatgtgTgaatgtccagtccataaaaa	9	8	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:34182863T>C	uc011kap.1	+	14	1881	c.1767T>C	c.(1765-1767)TGT>TGC	p.C589C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	589					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				ovary(2)|central_nervous_system(1)	3						CAGACATGTGTGAATGTCCAG	0.428													C	34182863	T	C	34182863	2	2	271	1	0	0	0	0	0	0	0	1	1468	1702	59	3		3	BMPER	7	34182863	Silent	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	10626754	34182863	124955800	90	134988											
ELMO1	9844	broad.mit.edu	37	chr7	36934570	36934570	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaactggtccagggagCtaggcttggttgtaagtgct	14	7	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:36934570C>G	uc003tfk.1	-	17	1797	c.1490G>C	c.(1489-1491)AGC>ACC	p.S497T	ELMO1_uc003tfi.1_Missense_Mutation_p.S17T|ELMO1_uc003tfj.1_Missense_Mutation_p.S17T|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.S401T|ELMO1_uc010kxg.1_Missense_Mutation_p.S497T	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	497					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GTCCAGGGAGCTAGGCTTGGT	0.507													G	36934570	C	G	36934570	3	3	271	1	0	0	0	0	1	0	0	0	5065	797	28	5	717	5	ELMO1	7	36934570	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	2751707	36934570	122204093	91	134989											
GLI3	2737	broad.mit.edu	37	chr7	42007505	42007506	+	Missense_Mutation	DNP	GG	GG	CT													tgcatgaagactgaccaccaGggcttggctgagatgtctgt					rs121917716	byFrequency	TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:42007505_42007506GG>CT	uc011kbh.1	-	14	2210_2211	c.2119_2120CC>AG	c.(2119-2121)CCT>AGT	p.P707S	GLI3_uc011kbg.1_Missense_Mutation_p.P648S	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	707			P -> S (in GCPS).		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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGACCACCAGGGCTTGGCTGA	0.52									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				CT	42007506	GG	CT	42007505	3	2	271	1	0	0	0	0	1	0	0	0	6439	1000	35	5	2630	5	GLI3	7	42007505	Missense_Mutation	DNP	GG	TCGA-HU-A4GP-01A-11D-A25D-08	5072935	42007505	117131158	92	134990											
CAMK2B	816	broad.mit.edu	37	chr7	44323802	44323802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagagcttgacacagcGtcggaccacagagaaagccc	13	12	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:44323802G>A	uc003tkq.2	-	2	298	c.88C>T	c.(88-90)CGC>TGC	p.R30C	CAMK2B_uc003tkp.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkx.2_Missense_Mutation_p.R30C|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.R30C|CAMK2B_uc003tks.2_Missense_Mutation_p.R30C|CAMK2B_uc003tku.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkv.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkt.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkw.2_Missense_Mutation_p.R30C|CAMK2B_uc010kyc.2_Missense_Mutation_p.R30C	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	30	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TTGACACAGCGTCGGACCACA	0.478													A	44323802	G	A	44323802	3	1	271	1	0	0	0	0	1	0	0	0	2600	1145	40	1	2003	1	CAMK2B	7	44323802	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	2316297	44323802	114814861	93	134991											
CLIP2	7461	broad.mit.edu	37	chr7	73790905	73790905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggcccaggaccagcGccgggatgccgagctgcgtg	18	13	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:73790905G>A	uc003uam.2	+	10	2501	c.2174G>A	c.(2173-2175)CGC>CAC	p.R725H	CLIP2_uc003uan.2_Missense_Mutation_p.R690H|CLIP2_uc003uao.2_Missense_Mutation_p.R119H	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	725	Potential.					microtubule associated complex				skin(3)	3						CAGGACCAGCGCCGGGATGCC	0.687													A	73790905	G	A	73790905	3	1	271	1	0	0	0	0	1	0	0	0	3533	1087	38	1	2208	1	CLIP2	7	73790905	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	29467103	73790905	85347758	94	134992											
MAGI2	9863	broad.mit.edu	37	chr7	77762312	77762312	+	Frame_Shift_Del	DEL	G	G	-													caggggactctgctgtgccaGgggactctgctgcgccatgg							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:77762312delG	uc003ugx.2	-	18	3351	c.3097delC	c.(3097-3099)CTGfs	p.L1033fs	MAGI2_uc003ugy.2_Frame_Shift_Del_p.L1019fs|MAGI2_uc010ldx.1_Frame_Shift_Del_p.L626fs	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1033	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCTGTGCCAGGGGACTCTGC	0.642													-	77762312	G	-	77762312	7	5	271	1	0	1	0	1	0	0	0	0	9191	991	35	0	1290	0	MAGI2	7	77762312	Frame_Shift_Del	DEL	G	TCGA-HU-A4GP-01A-11D-A25D-08	3971407	77762312	81376351	95	134993											
PCLO	27445	broad.mit.edu	37	chr7	82764700	82764700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaatctgcctcagggggCtgcttggccttggctgaagg	15	9	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:82764700C>A	uc003uhx.2	-	3	2455	c.2166G>T	c.(2164-2166)CAG>CAT	p.Q722H	PCLO_uc003uhv.2_Missense_Mutation_p.Q722H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	668	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCTCAGGGGGCTGCTTGGCCT	0.537													A	82764700	C	A	82764700	3	1	271	1	0	0	0	0	1	0	0	0	11583	796	28	5	13371	5	PCLO	7	82764700	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	5002388	82764700	76373963	96	134994											
PCLO	27445	broad.mit.edu	37	chr7	82784197	82784197	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tattgcaaagaggacagatgGttttagggaggccttgtgaa	14	4	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:82784197G>C	uc003uhx.2	-	2	2049	c.1760C>G	c.(1759-1761)ACC>AGC	p.T587S	PCLO_uc003uhv.2_Missense_Mutation_p.T587S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	533	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGGACAGATGGTTTTAGGGAG	0.458													C	82784197	G	C	82784197	3	2	271	1	0	0	0	0	1	0	0	0	11583	1261	44	5	13781	5	PCLO	7	82784197	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	19497	82784197	76354466	97	134995											
MGC26647	219557	broad.mit.edu	37	chr7	88424067	88424067	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatagtagtcagcaacatCttttctttctacatttgctt	4	9	5	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:88424067C>A	uc003ujv.2	-	2	372	c.190G>T	c.(190-192)GAT>TAT	p.D64Y	ZNF804B_uc011khi.1_Intron	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	hypothetical protein LOC219557	64											0	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		STAD - Stomach adenocarcinoma(171;0.229)			TCAGCAACATCTTTTCTTTCT	0.393													A	88424067	C	A	88424067	3	1	271	1	0	0	0	0	1	0	0	0	9550	913	32	5	575	5	MGC26647	7	88424067	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	5639870	88424067	70714596	98	134996											
C7orf52	375607	broad.mit.edu	37	chr7	100816771	100816771	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaccgtctccccggCgtcgatcacgttcaccgact	8	19	3	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:100816771C>G	uc003uxy.1	-	3	582	c.343G>C	c.(343-345)GCC>CCC	p.A115P	C7orf52_uc003uxz.1_Missense_Mutation_p.A115P	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	115	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					GTCTCCCCGGCGTCGATCACG	0.736													G	100816771	C	G	100816771	3	3	271	1	0	0	0	0	1	0	0	0	2401	768	27	5	774	5	C7orf52	7	100816771	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	12392704	100816771	58321892	99	134997											
SRPK2	6733	broad.mit.edu	37	chr7	104909363	104909363	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaagattgcctgcccttgcTttcaagccttatatcaagag	7	12	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:104909363T>A	uc003vct.2	-	1	115	c.-72A>T	c.(-74--70)AAAGC>AATGC		SRPK2_uc003vcu.2_Intron|SRPK2_uc003vcv.2_Intron|SRPK2_uc003vcw.1_Intron	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2						angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTGCCCTTGCTTTCAAGCCTT	0.403													A	104909363	T	A	104909363	1	1	271	1	0	0	0	0	0	0	0	0	15159	1624	56	5		5	SRPK2	7	104909363	Translation_Start_Site	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	4092592	104909363	54229300	100	134998											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519479	113519479	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtctctgttactagcTccaatccctgccacacttat	6	15	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:113519479T>C	uc010ljy.1	-	4	1699	c.1668A>G	c.(1666-1668)GGA>GGG	p.G556G		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	556					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TGTTACTAGCTCCAATCCCTG	0.418													C	113519479	T	C	113519479	2	2	271	1	0	0	0	0	0	0	0	1	12371	1538	54	3		3	PPP1R3A	7	113519479	Silent	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	8610116	113519479	45619184	101	134999											
TMEM139	135932	broad.mit.edu	37	chr7	142983557	142983557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtctatgaagaggccGtggtgggactagaatcccag	14	9	1	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:142983557G>A	uc010lov.2	+	4	425	c.286G>A	c.(286-288)GTG>ATG	p.V96M	CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.V96M|TMEM139_uc003wcl.2_Missense_Mutation_p.V96M|TMEM139_uc003wcm.2_Missense_Mutation_p.V96M|TMEM139_uc003wcn.2_RNA	NM_153345	NP_699176	Q8IV31	TM139_HUMAN	transmembrane protein 139 precursor	96	Cytoplasmic (Potential).					integral to membrane					0	Melanoma(164;0.059)					TGAAGAGGCCGTGGTGGGACT	0.532													A	142983557	G	A	142983557	3	1	271	1	0	0	0	0	1	0	0	0	16051	1145	40	1	292	1	TMEM139	7	142983557	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	29464078	142983557	16155106	102	135000											
MLL3	58508	broad.mit.edu	37	chr7	151835972	151835972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccacacaattaggtgcaCacgaatggttgatatacctg	9	10	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr7:151835972C>T	uc003wla.2	-	58	14771	c.14552G>A	c.(14551-14553)TGT>TAT	p.C4851Y	MLL3_uc003wkz.2_Missense_Mutation_p.C3965Y|MLL3_uc003wkx.2_Missense_Mutation_p.C1009Y|MLL3_uc003wky.2_Missense_Mutation_p.C2411Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4851	SET.	Zinc (By similarity).			intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTAGGTGCACACGAATGGTT	0.408			N		medulloblastoma								T	151835972	C	T	151835972	3	4	271	1	0	0	0	0	1	0	0	0	9622	478	17	4	191	4	MLL3	7	151835972	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	8852415	151835972	7302691	103	135001											
UBXN8	7993	broad.mit.edu	37	chr8	30623815	30623815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctacttcctttcccagaCggcctctggcagtggaggga	11	12	2	1	rs34990535		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:30623815C>T	uc003xii.2	+	10	735	c.718C>T	c.(718-720)CGG>TGG	p.R240W	UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA	NM_005671	NP_005662	O00124	UBXN8_HUMAN	reproduction 8	240	UBX.				single fertilization						0						CTTTCCCAGACGGCCTCTGGC	0.488													T	30623815	C	T	30623815	3	4	271	1	0	0	0	0	1	0	0	0	16916	527	19	1	747	1	UBXN8	8	30623815	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		30623815	115740207	104	135002											
TERF1	7013	broad.mit.edu	37	chr8	73951418	73951418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtttcaaagagtcagccGgtaactcctgaaaaacatcg	8	11	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:73951418G>A	uc003xzd.2	+	9	1132	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	TERF1_uc003xze.2_Silent_p.P349P	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	369	Interaction with RLIM.				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 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			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			AGAGTCAGCCGGTAACTCCTG	0.308													A	73951418	G	A	73951418	2	1	271	1	0	0	0	0	0	0	0	1	15758	1103	39	1		1	TERF1	8	73951418	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	43327603	73951418	72412604	105	135003											
ZFHX4	79776	broad.mit.edu	37	chr8	77766219	77766219	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaacagaagactccatggaTgccactgatcaagtggtata	9	9	1	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:77766219T>A	uc003yav.2	+	10	7314	c.6927T>A	c.(6925-6927)GAT>GAA	p.D2309E	ZFHX4_uc003yau.1_Missense_Mutation_p.D2354E|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2309E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTCCATGGATGCCACTGATC	0.483										HNSCC(33;0.089)			A	77766219	T	A	77766219	3	1	271	1	0	0	0	0	1	0	0	0	17632	1461	51	5	7096	5	ZFHX4	8	77766219	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	3814801	77766219	68597803	106	135004											
ZFHX4	79776	broad.mit.edu	37	chr8	77766560	77766560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctccctcggcctctcaaaCaccggtcccttccagtccac	5	21	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:77766560C>A	uc003yav.2	+	10	7655	c.7268C>A	c.(7267-7269)ACA>AAA	p.T2423K	ZFHX4_uc003yau.1_Missense_Mutation_p.T2468K|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2423K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2423	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCTCAAACACCGGTCCCT	0.428										HNSCC(33;0.089)			A	77766560	C	A	77766560	3	1	271	1	0	0	0	0	1	0	0	0	17632	478	17	5	7437	5	ZFHX4	8	77766560	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	341	77766560	68597462	107	135005											
RIMS2	9699	broad.mit.edu	37	chr8	104898052	104898052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatggaaaatcagcgaTcttattcaatggaaagaact	8	8	3	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:104898052T>C	uc003yls.2	+	2	800	c.559T>C	c.(559-561)TCT>CCT	p.S187P	RIMS2_uc003ylp.2_Missense_Mutation_p.S409P|RIMS2_uc003ylw.2_Missense_Mutation_p.S217P|RIMS2_uc003ylq.2_Missense_Mutation_p.S217P|RIMS2_uc003ylr.2_Missense_Mutation_p.S217P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	440					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAATCAGCGATCTTATTCAAT	0.468										HNSCC(12;0.0054)			C	104898052	T	C	104898052	3	2	271	1	0	0	0	0	1	0	0	0	13368	1435	50	3	1365	3	RIMS2	8	104898052	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	27131492	104898052	41465970	108	135006											
TRPS1	7227	broad.mit.edu	37	chr8	116599582	116599582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgtccttctcttccagCttctctctcttcaccacact	3	19	4	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:116599582C>T	uc003ynz.2	-	4	2766	c.2307G>A	c.(2305-2307)AAG>AAA	p.K769K	TRPS1_uc011lhy.1_Silent_p.K773K|TRPS1_uc003yny.2_Silent_p.K782K|TRPS1_uc010mcy.2_Silent_p.K769K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	769	Mediates interaction with GLI3.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TCTCTTCCAGCTTCTCTCTCT	0.502									Langer-Giedion_syndrome				T	116599582	C	T	116599582	2	4	271	1	0	0	0	0	0	0	0	1	16590	796	28	2		2	TRPS1	8	116599582	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	11701530	116599582	29764440	109	135007											
ADCY8	114	broad.mit.edu	37	chr8	132052235	132052235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgccgctggcactgccGctcccgctgcgttccgggaa	13	18	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:132052235G>A	uc003ytd.3	-	1	601	c.345C>T	c.(343-345)AGC>AGT	p.S115S	ADCY8_uc010mds.2_Silent_p.S115S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	115	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCACTGCCGCTCCCGCTGC	0.662										HNSCC(32;0.087)			A	132052235	G	A	132052235	2	1	271	1	0	0	0	0	0	0	0	1	300	1078	38	1		1	ADCY8	8	132052235	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	15452653	132052235	14311787	110	135008											
TG	7038	broad.mit.edu	37	chr8	133925324	133925324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaaggatctccttgggCgcttcacagatctgatccag	12	11	3	2	rs140482581	byFrequency	TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:133925324C>T	uc003ytw.2	+	20	4233	c.4192C>T	c.(4192-4194)CGC>TGC	p.R1398C	TG_uc010mdw.2_Missense_Mutation_p.R157C	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1398					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TCTCCTTGGGCGCTTCACAGA	0.552													T	133925324	C	T	133925324	3	4	271	1	0	0	0	0	1	0	0	0	15810	768	27	1	4270	1	TG	8	133925324	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	1873089	133925324	12438698	111	135009											
TG	7038	broad.mit.edu	37	chr8	134042161	134042161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatttggcggggaccctCggcgcgtgtccctggcagca	17	12	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:134042161C>T	uc003ytw.2	+	41	7173	c.7132C>T	c.(7132-7134)CGG>TGG	p.R2378W	TG_uc010mdw.2_Missense_Mutation_p.R1137W|TG_uc011ljb.1_Missense_Mutation_p.R747W|TG_uc011ljc.1_Missense_Mutation_p.R511W	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2378					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		CGGGGACCCTCGGCGCGTGTC	0.662													T	134042161	C	T	134042161	3	4	271	1	0	0	0	0	1	0	0	0	15810	875	31	1	7294	1	TG	8	134042161	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	116837	134042161	12321861	112	135010											
CYP11B1	1584	broad.mit.edu	37	chr8	143961216	143961216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcacacctctgcctttGccctgagtgccattccaatg	7	16	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr8:143961216G>T	uc003yxi.2	-	1	21	c.14C>A	c.(13-15)GCA>GAA	p.A5E	CYP11B1_uc003yxj.2_Missense_Mutation_p.A5E|CYP11B1_uc010mey.2_Missense_Mutation_p.A5E	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	5					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			ovary(3)	3	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)	CTCTGCCTTTGCCCTGAGTGC	0.607									Familial_Hyperaldosteronism_type_I				T	143961216	G	T	143961216	3	4	271	1	0	0	0	0	1	0	0	0	4145	1319	46	5	1533	5	CYP11B1	8	143961216	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	9919055	143961216	2402806	113	135011											
IFNB1	3456	broad.mit.edu	37	chr9	21077644	21077644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagatggtcaatgcggcGtcctccttctggaactgctg	11	11	3	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr9:21077644G>A	uc003zok.2	-	1	300	c.225C>T	c.(223-225)GAC>GAT	p.D75D		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast precursor	75					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TCAATGCGGCGTCCTCCTTCT	0.468													A	21077644	G	A	21077644	2	1	271	1	0	0	0	0	0	0	0	1	7546	1136	40	1		1	IFNB1	9	21077644	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		21077644	120135787	114	135012											
DAPK1	1612	broad.mit.edu	37	chr9	90312111	90312111	+	Frame_Shift_Del	DEL	A	A	-													gtcccttgtcccagttgaagAacccataggtgagctaagtc							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr9:90312111delA	uc004apc.2	+	22	2741	c.2603delA	c.(2602-2604)GAAfs	p.E868fs	DAPK1_uc004apd.2_Frame_Shift_Del_p.E868fs|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Frame_Shift_Del_p.E605fs	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	868					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						CCAGTTGAAGAACCCATAGGT	0.522									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				-	90312111	A	-	90312111	7	5	271	1	0	1	0	1	0	0	0	0	4235	246	9	0	2685	0	DAPK1	9	90312111	Frame_Shift_Del	DEL	A	TCGA-HU-A4GP-01A-11D-A25D-08	69234467	90312111	50901320	115	135013											
GABBR2	9568	broad.mit.edu	37	chr9	101304173	101304173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcagagaacctctgaacGtcttgcgtcagcgtgcccac	9	15	4	2	rs142025089		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr9:101304173G>A	uc004ays.2	-	3	768	c.612C>T	c.(610-612)GAC>GAT	p.D204D		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	204	Extracellular (Potential).				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			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACCTCTGAACGTCTTGCGTCA	0.537													A	101304173	G	A	101304173	2	1	271	1	0	0	0	0	0	0	0	1	6156	1136	40	1		1	GABBR2	9	101304173	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	10992062	101304173	39909258	116	135014											
USP20	10868	broad.mit.edu	37	chr9	132637006	132637006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccacctacgacctcctctCggtcatctgccaccacggca	6	20	3	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr9:132637006C>T	uc004bys.2	+	18	2103	c.1892C>T	c.(1891-1893)TCG>TTG	p.S631L	USP20_uc004byr.2_Missense_Mutation_p.S631L|USP20_uc004byt.1_Missense_Mutation_p.S631L	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	631					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	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				GACCTCCTCTCGGTCATCTGC	0.647													T	132637006	C	T	132637006	3	4	271	1	0	0	0	0	1	0	0	0	17049	893	31	1	1954	1	USP20	9	132637006	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	31332833	132637006	8576425	117	135015											
SEC16A	9919	broad.mit.edu	37	chr9	139358985	139358985	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acagacatgaggcactgaaaAtttttcaggagaagttggtc	11	6	1	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr9:139358985A>T	uc004chx.2	-	9	4642	c.4333T>A	c.(4333-4335)TTT>ATT	p.F1445I	SEC16A_uc004chv.3_Missense_Mutation_p.F835I|SEC16A_uc004chw.2_Missense_Mutation_p.F1445I|SEC16A_uc010nbn.2_Missense_Mutation_p.F1445I	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1267					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCACTGAAAATTTTTCAGGA	0.438													T	139358985	A	T	139358985	3	4	271	1	0	0	0	0	1	0	0	0	13986	101	4	5	2836	5	SEC16A	9	139358985	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	6721979	139358985	1854446	118	135016											
PNPLA7	375775	broad.mit.edu	37	chr9	140373543	140373543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctggagaagacgcggcGcgggcagcagaggtgcaggt	18	11	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr9:140373543G>A	uc004cnf.2	-	23	2990	c.2653C>T	c.(2653-2655)CGC>TGC	p.R885C	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.R151C|PNPLA7_uc004cne.1_Missense_Mutation_p.R151C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R293C|PNPLA7_uc010ncj.1_Missense_Mutation_p.R910C	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	885					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AAGACGCGGCGCGGGCAGCAG	0.692													A	140373543	G	A	140373543	3	1	271	1	0	0	0	0	1	0	0	0	12170	1087	38	1	1348	1	PNPLA7	9	140373543	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1014558	140373543	839888	119	135017											
USP6NL	9712	broad.mit.edu	37	chr10	11505340	11505340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcatctttggccgcacGtttgacacccgcacctcggc	9	17	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:11505340G>A	uc001ikt.3	-	15	1908	c.1587C>T	c.(1585-1587)AAC>AAT	p.N529N	USP6NL_uc001iks.1_Silent_p.N546N	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	529						intracellular	Rab GTPase activator activity				0						TTGGCCGCACGTTTGACACCC	0.642													A	11505340	G	A	11505340	2	1	271	1	0	0	0	0	0	0	0	1	17084	1136	40	1		1	USP6NL	10	11505340	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		11505340	124029407	120	135018											
MPP7	143098	broad.mit.edu	37	chr10	28347495	28347495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgagtctatacttgtgcCgtagtagttgtttttatatt	8	5	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:28347495C>T	uc001iua.1	-	17	1740	c.1336G>A	c.(1336-1338)GGC>AGC	p.G446S	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.G446S|MPP7_uc009xla.2_Missense_Mutation_p.G446S|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	446	Guanylate kinase-like.				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			ovary(1)	1						ATACTTGTGCCGTAGTAGTTG	0.323													T	28347495	C	T	28347495	3	4	271	1	0	0	0	0	1	0	0	0	9739	652	23	1	406	1	MPP7	10	28347495	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	16842155	28347495	107187252	121	135019											
RBP3	5949	broad.mit.edu	37	chr10	48389994	48389994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccccgctgccctcccacGtctggctgcctccaccaagg	9	21	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:48389994G>A	uc001jez.2	-	1	998	c.884C>T	c.(883-885)ACG>ATG	p.T295M		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	295	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	GCCCTCCCACGTCTGGCTGCC	0.692													A	48389994	G	A	48389994	3	1	271	1	0	0	0	0	1	0	0	0	13157	1145	40	1	2875	1	RBP3	10	48389994	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	20042499	48389994	87144753	122	135020											
DKK1	22943	broad.mit.edu	37	chr10	54074279	54074279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggccaccctctgctgggaGtgagcgccaccttgaactcg	13	15	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:54074279G>T	uc001jjr.2	+	1	239	c.85G>T	c.(85-87)GTG>TTG	p.V29L	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	29					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TCTGCTGGGAGTGAGCGCCAC	0.657											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	54074279	G	T	54074279	3	4	271	1	0	0	0	0	1	0	0	0	4544	1029	36	5	87	5	DKK1	10	54074279	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	5684285	54074279	81460468	123	135021											
SORCS1	114815	broad.mit.edu	37	chr10	108923844	108923844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaagcgggtggctttgtcCgggtcccgctcccgagtccc	15	15	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:108923844C>T	uc001kym.2	-	1	449	c.441G>A	c.(439-441)CCG>CCA	p.P147P	SORCS1_uc001kyl.2_Silent_p.P147P|SORCS1_uc009xxs.2_Silent_p.P147P|SORCS1_uc001kyn.1_Silent_p.P147P|SORCS1_uc001kyo.2_Silent_p.P147P	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	147	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGCTTTGTCCGGGTCCCGCT	0.647													T	108923844	C	T	108923844	2	4	271	1	0	0	0	0	0	0	0	1	14930	639	23	1		1	SORCS1	10	108923844	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	54849565	108923844	26610903	124	135022											
ATRNL1	26033	broad.mit.edu	37	chr10	117075045	117075045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaaaattgttctggaTtgagaacctgtggacagtgt	11	7	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:117075045T>C	uc001lcg.2	+	18	3222	c.2836T>C	c.(2836-2838)TTG>CTG	p.L946L	ATRNL1_uc010qsm.1_Silent_p.L121L|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	946	PSI 5.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		TTGTTCTGGATTGAGAACCTG	0.383													C	117075045	T	C	117075045	2	2	271	1	0	0	0	0	0	0	0	1	1207	1490	52	3		3	ATRNL1	10	117075045	Silent	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	8151201	117075045	18459702	125	135023											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118196292	118196292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaccaggactttctcaaCagagttggtaggtttaccct	10	9	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:118196292C>T	uc001lcl.3	+	2	220	c.119C>T	c.(118-120)ACA>ATA	p.T40I		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	40					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		ACTTTCTCAACAGAGTTGGTA	0.433													T	118196292	C	T	118196292	3	4	271	1	0	0	0	0	1	0	0	0	12152	478	17	4	125	4	PNLIPRP3	10	118196292	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	1121247	118196292	17338455	126	135024											
SEC23IP	11196	broad.mit.edu	37	chr10	121652327	121652327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacctaacggtggcagcggCggcgcctccacttcctcatc	10	16	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:121652327C>T	uc001leu.1	+	1	105	c.33C>T	c.(31-33)GGC>GGT	p.G11G	SEC23IP_uc010qtc.1_5'UTR	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	11	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GTGGCAGCGGCGGCGCCTCCA	0.617													T	121652327	C	T	121652327	2	4	271	1	0	0	0	0	0	0	0	1	13993	755	27	1		1	SEC23IP	10	121652327	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	3456035	121652327	13882420	127	135025											
DMBT1	1755	broad.mit.edu	37	chr10	124390531	124390531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggtctatgtgccgggcGtgtagaaatttaccatggtg	13	7	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:124390531G>A	uc001lgk.1	+	46	5799	c.5693G>A	c.(5692-5694)CGT>CAT	p.R1898H	DMBT1_uc001lgl.1_Missense_Mutation_p.R1888H|DMBT1_uc001lgm.1_Missense_Mutation_p.R1270H|DMBT1_uc009xzz.1_Missense_Mutation_p.R1898H|DMBT1_uc010qtx.1_Missense_Mutation_p.R618H|DMBT1_uc009yab.1_Missense_Mutation_p.R601H|DMBT1_uc009yac.1_Missense_Mutation_p.R192H	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1898	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGCCGGGCGTGTAGAAATT	0.493													A	124390531	G	A	124390531	3	1	271	1	0	0	0	0	1	0	0	0	4577	1145	40	1	5875	1	DMBT1	10	124390531	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	2738204	124390531	11144216	128	135026											
FOXI2	399823	broad.mit.edu	37	chr10	129536928	129536928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggggccgaggcgccagCgctggagcccccgagcgcgg	21	14	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr10:129536928C>T	uc009yas.2	+	2	656	c.656C>T	c.(655-657)GCG>GTG	p.A219V	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	219					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GAGGCGCCAGCGCTGGAGCCC	0.687													T	129536928	C	T	129536928	3	4	271	1	0	0	0	0	1	0	0	0	6010	768	27	1	662	1	FOXI2	10	129536928	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	5146397	129536928	5997819	129	135027											
IFITM5	387733	broad.mit.edu	37	chr11	299390	299390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgaccagatcaagtggtctCgaggcggggggtgcggggcc	19	11	2	1	rs138776304		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:299390C>T	uc001low.1	-	1	137	c.101G>A	c.(100-102)CGA>CAA	p.R34Q		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	34	Extracellular (Potential).				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane					0		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAGTGGTCTCGAGGCGGGGG	0.682													T	299390	C	T	299390	3	4	271	1	0	0	0	0	1	0	0	0	7529	884	31	1	305	1	IFITM5	11	299390	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		299390	134707126	130	135028											
OR51S1	119692	broad.mit.edu	37	chr11	4870119	4870119	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggataaaaaccatctgtAgaaggcaggctgaggcaggg	14	7	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:4870119A>T	uc010qyo.1	-	1	320	c.320T>A	c.(319-321)CTA>CAA	p.L107Q		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	107	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		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)		AACCATCTGTAGAAGGCAGGC	0.542													T	4870119	A	T	4870119	3	4	271	1	0	0	0	0	1	0	0	0	11105	420	15	5	654	5	OR51S1	11	4870119	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	4570729	4870119	130136397	131	135029											
UBQLNL	143630	broad.mit.edu	37	chr11	5537086	5537086	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgtgtctagatgttctgAaatgaactgccacatgaact	9	8	2	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:5537086A>G	uc001maz.3	-	1	871	c.586T>C	c.(586-588)TCA>CCA	p.S196P	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	196										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGATGTTCTGAAATGAACTGC	0.483													G	5537086	A	G	5537086	3	3	271	1	0	0	0	0	1	0	0	0	16897	246	9	3	845	3	UBQLNL	11	5537086	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	666967	5537086	129469430	132	135030											
LUZP2	338645	broad.mit.edu	37	chr11	24518846	24518846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgcgctggtcctcagCaccaggtgagtccaggagcg	14	14	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:24518846C>T	uc001mqs.2	+	1	291	c.57C>T	c.(55-57)AGC>AGT	p.S19S	LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Silent_p.S19S	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	19	Potential.					extracellular region				ovary(1)|skin(1)	2						TGGTCCTCAGCACCAGGTGAG	0.657													T	24518846	C	T	24518846	2	4	271	1	0	0	0	0	0	0	0	1	9087	709	25	2		2	LUZP2	11	24518846	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	18981760	24518846	110487670	133	135031											
CHST1	8534	broad.mit.edu	37	chr11	45671632	45671632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccggtggacacggagTtggagaagtcctcgcacacc	15	11	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:45671632T>G	uc001mys.1	-	4	1513	c.842A>C	c.(841-843)AAC>ACC	p.N281T		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	281	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGACACGGAGTTGGAGAAGTC	0.637													G	45671632	T	G	45671632	3	3	271	1	0	0	0	0	1	0	0	0	3397	1725	60	5	397	5	CHST1	11	45671632	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	21152786	45671632	89334884	134	135032											
OR4C11	219429	broad.mit.edu	37	chr11	55371655	55371655	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagcaagaatctgcaaaGgacaaataaaatagaaagaa	8	4	1	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:55371655G>C	uc010rii.1	-	1	195	c.195C>G	c.(193-195)TCC>TCG	p.S65S		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AATCTGCAAAGGACAAATAAA	0.408													C	55371655	G	C	55371655	2	2	271	1	0	0	0	0	0	0	0	1	11045	987	35	5		5	OR4C11	11	55371655	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	9700023	55371655	79634861	135	135033											
OR5D14	219436	broad.mit.edu	37	chr11	55563243	55563243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttagtcacctctcttttgTtgatttttgttactcttcca	4	11	3	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:55563243T>G	uc010rim.1	+	1	212	c.212T>G	c.(211-213)GTT>GGT	p.V71G		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				CTCTCTTTTGTTGATTTTTGT	0.383													G	55563243	T	G	55563243	3	3	271	1	0	0	0	0	1	0	0	0	11155	1725	60	5	214	5	OR5D14	11	55563243	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	191588	55563243	79443273	136	135034											
OR8K3	219473	broad.mit.edu	37	chr11	56086292	56086292	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttactttatccttctgtggCtacaacgtcattagtcattt	5	9	3	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:56086292C>A	uc010rjf.1	+	1	510	c.510C>A	c.(508-510)GGC>GGA	p.G170G		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					CCTTCTGTGGCTACAACGTCA	0.378													A	56086292	C	A	56086292	2	1	271	1	0	0	0	0	0	0	0	1	11244	784	28	5		5	OR8K3	11	56086292	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	523049	56086292	78920224	137	135035											
OR8K3	219473	broad.mit.edu	37	chr11	56086642	56086642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatccccatgttgaatccctTgatctatagtttacgaaaca	5	10	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:56086642T>C	uc010rjf.1	+	1	860	c.860T>C	c.(859-861)TTG>TCG	p.L287S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TTGAATCCCTTGATCTATAGT	0.353													C	56086642	T	C	56086642	3	2	271	1	0	0	0	0	1	0	0	0	11244	1821	63	3	862	3	OR8K3	11	56086642	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	350	56086642	78919874	138	135036											
OR10Q1	219960	broad.mit.edu	37	chr11	57995417	57995417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaggctgctttacggaTaatggcactcctcagagcac	11	11	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:57995417T>A	uc010rkd.1	-	1	931	c.931A>T	c.(931-933)ATC>TTC	p.I311F		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GCTTTACGGATAATGGCACTC	0.498													A	57995417	T	A	57995417	3	1	271	1	0	0	0	0	1	0	0	0	10916	1406	49	5	32	5	OR10Q1	11	57995417	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	1908775	57995417	77011099	139	135037											
SCGB1D2	10647	broad.mit.edu	37	chr11	62010904	62010904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggagtgaagagatgcacgGatcagatgtcccttcagaaa	12	7	2	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:62010904G>A	uc001ntb.2	+	2	255	c.199G>A	c.(199-201)GAT>AAT	p.D67N		NM_006551	NP_006542	O95969	SG1D2_HUMAN	lipophilin B precursor	67						extracellular space	binding				0						GAGATGCACGGATCAGATGTC	0.453													A	62010904	G	A	62010904	3	1	271	1	0	0	0	0	1	0	0	0	13897	1174	41	4	205	4	SCGB1D2	11	62010904	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	4015487	62010904	72995612	140	135038											
CASP4	837	broad.mit.edu	37	chr11	104825729	104825729	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttttttctgtggttgccttCtgttagaaatagaaagattc	8	6	2	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:104825729C>T	uc001pid.1	-	2	81	c.8_splice	c.e2-1	p.E3_splice	CASP4_uc001pib.1_Splice_Site|CASP4_uc009yxg.1_Splice_Site|CASP4_uc010rux.1_Splice_Site_p.E3_splice|CASP4_uc010ruy.1_Splice_Site_p.E3_splice	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor						apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGGTTGCCTTCTGTTAGAAAT	0.368													T	104825729	C	T	104825729	5	4	271	1	0	0	0	0	0	0	1	0	2673	927	32	4	1154	4	CASP4	11	104825729	Splice_Site	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	42814825	104825729	30180787	141	135039											
DIXDC1	85458	broad.mit.edu	37	chr11	111835363	111835363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctgcgacaagatctcCgggatggggtgatcctggca	15	10	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:111835363C>T	uc001pml.2	+	2	448	c.151C>T	c.(151-153)CGG>TGG	p.R51W	DIXDC1_uc001pmj.2_Missense_Mutation_p.R44W|DIXDC1_uc001pmk.2_Missense_Mutation_p.R51W	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	51	CH.				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			ovary(1)	1		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)		ACAAGATCTCCGGGATGGGGT	0.517													T	111835363	C	T	111835363	3	4	271	1	0	0	0	0	1	0	0	0	4541	643	23	1	157	1	DIXDC1	11	111835363	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	7009634	111835363	23171153	142	135040											
ANKK1	255239	broad.mit.edu	37	chr11	113270344	113270344	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacctgctgaagagtggagcGgtccctgatgcccttgacca	12	13	0	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:113270344G>C	uc001pny.2	+	8	1747	c.1653G>C	c.(1651-1653)GCG>GCC	p.A551A		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	551	ANK 6.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGTGGAGCGGTCCCTGATG	0.592													C	113270344	G	C	113270344	2	2	271	1	0	0	0	0	0	0	0	1	631	1103	39	5		5	ANKK1	11	113270344	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1434981	113270344	21736172	143	135041											
ANKK1	255239	broad.mit.edu	37	chr11	113270418	113270418	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggggcaaatacctgatctGcaagatgctgctcaggtacg	12	10	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:113270418G>T	uc001pny.2	+	8	1821	c.1727G>T	c.(1726-1728)TGC>TTC	p.C576F		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	576	ANK 7.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TACCTGATCTGCAAGATGCTG	0.612													T	113270418	G	T	113270418	3	4	271	1	0	0	0	0	1	0	0	0	631	1319	46	5	1757	5	ANKK1	11	113270418	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	74	113270418	21736098	144	135042											
MFRP	83552	broad.mit.edu	37	chr11	119216153	119216153	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagggggccttcaggctcAggggagagttccaagcgatc	17	9	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:119216153A>T	uc001pwj.2	-	5	778	c.618T>A	c.(616-618)CCT>CCA	p.P206P	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.P206P	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CTTCAGGCTCAGGGGAGAGTT	0.507													T	119216153	A	T	119216153	2	4	271	1	0	0	0	0	0	0	0	1	9526	175	7	5		5	MFRP	11	119216153	Silent	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	5945735	119216153	15790363	145	135043											
OR6M1	390261	broad.mit.edu	37	chr11	123676313	123676313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaaagatgttgctcccgtGggcaatggagacaacagtga	12	9	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:123676313G>T	uc010rzz.1	-	1	745	c.745C>A	c.(745-747)CAC>AAC	p.H249N		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		TTGCTCCCGTGGGCAATGGAG	0.512													T	123676313	G	T	123676313	3	4	271	1	0	0	0	0	1	0	0	0	11205	1348	47	5	199	5	OR6M1	11	123676313	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	4460160	123676313	11330203	146	135044											
ST3GAL4	6484	broad.mit.edu	37	chr11	126277484	126277484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaggatctgctcctccGggtgctagccatcaccagct	11	13	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:126277484G>A	uc001qds.2	+	6	515	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	ST3GAL4_uc001qdt.2_Missense_Mutation_p.R95Q|ST3GAL4_uc009zcc.2_Intron|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R88Q|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R95Q|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R99Q|ST3GAL4_uc009zce.2_Missense_Mutation_p.R95Q|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R88Q|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R88Q|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'UTR	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	99	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTGCTCCTCCGGGTGCTAGCC	0.587													A	126277484	G	A	126277484	3	1	271	1	0	0	0	0	1	0	0	0	15216	1116	39	1	302	1	ST3GAL4	11	126277484	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	2601171	126277484	8729032	147	135045											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840133	128840133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatacctgtagtggacccGgccattctcaaagtaaggct	10	11	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:128840133G>A	uc009zcp.2	-	22	4933	c.4933C>T	c.(4933-4935)CGG>TGG	p.R1645W	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R604W|ARHGAP32_uc001qez.2_Missense_Mutation_p.R1296W	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1645	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			lung(3)|ovary(2)	5						TAGTGGACCCGGCCATTCTCA	0.498													A	128840133	G	A	128840133	3	1	271	1	0	0	0	0	1	0	0	0	881	1115	39	1	1334	1	ARHGAP32	11	128840133	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	2562649	128840133	6166383	148	135046											
NTM	50863	broad.mit.edu	37	chr11	132177584	132177584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaccggttttcccgcagcGgttggctttgtgagtgaaga	14	8	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr11:132177584G>A	uc001qgp.2	+	4	1192	c.528G>A	c.(526-528)GCG>GCA	p.A176A	NTM_uc001qgm.2_Silent_p.A176A|NTM_uc010sch.1_Silent_p.A167A|NTM_uc010sci.1_Silent_p.A176A|NTM_uc010scj.1_Silent_p.A135A|NTM_uc001qgo.2_Silent_p.A176A|NTM_uc001qgq.2_Silent_p.A176A|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	176	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						TTCCCGCAGCGGTTGGCTTTG	0.468													A	132177584	G	A	132177584	2	1	271	1	0	0	0	0	0	0	0	1	10699	1130	39	1		1	NTM	11	132177584	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	3337451	132177584	2828932	149	135047											
CD163L1	283316	broad.mit.edu	37	chr12	7531675	7531675	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttcccctccagtgcagccaGaattcgacattaagatgtgt	8	12	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr12:7531675G>T	uc001qsy.2	-	9	2296	c.2270C>A	c.(2269-2271)TCT>TAT	p.S757Y	CD163L1_uc010sge.1_Missense_Mutation_p.S767Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	757	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						AGTGCAGCCAGAATTCGACAT	0.458													T	7531675	G	T	7531675	3	4	271	1	0	0	0	0	1	0	0	0	2968	942	33	5	2135	5	CD163L1	12	7531675	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		7531675	126320220	150	135048											
KCNJ8	3764	broad.mit.edu	37	chr12	21919302	21919302	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcctcaggtcacccactcgGaacatgaagcacagcttgcc	8	15	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr12:21919302G>T	uc001rff.2	-	3	968	c.630C>A	c.(628-630)TTC>TTA	p.F210L		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	210	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	CACCCACTCGGAACATGAAGC	0.493													T	21919302	G	T	21919302	3	4	271	1	0	0	0	0	1	0	0	0	8056	1165	41	5	648	5	KCNJ8	12	21919302	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	14387627	21919302	111932593	151	135049											
ITPR2	3709	broad.mit.edu	37	chr12	26868257	26868257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcccagagtgctttagaaCtagtagcagaagtagctgat	10	7	0	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr12:26868257C>A	uc001rhg.2	-	8	1247	c.830G>T	c.(829-831)AGT>ATT	p.S277I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	277	Cytoplasmic (Potential).|MIR 3.				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TGCTTTAGAACTAGTAGCAGA	0.358													A	26868257	C	A	26868257	3	1	271	1	0	0	0	0	1	0	0	0	7921	565	20	5	7475	5	ITPR2	12	26868257	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	4948955	26868257	106983638	152	135050											
CAPRIN2	65981	broad.mit.edu	37	chr12	30867934	30867934	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gataggaattggttattaatCtcccaccacgagtacatcct	7	10	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr12:30867934C>G	uc001rji.1	-	15	3360	c.2609G>C	c.(2608-2610)AGA>ACA	p.R870T	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R666T|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R537T|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R820T|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R536T|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R869T|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R814T|CAPRIN2_uc001rjm.1_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	870					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			ovary(1)|central_nervous_system(1)	2	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)					GGTTATTAATCTCCCACCACG	0.423													G	30867934	C	G	30867934	3	3	271	1	0	0	0	0	1	0	0	0	2636	913	32	5	790	5	CAPRIN2	12	30867934	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	3999677	30867934	102983961	153	135051											
GPD1	2819	broad.mit.edu	37	chr12	50498370	50498370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaggggctcagccatcGccaagatcgtgggtggcaat	13	13	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr12:50498370G>A	uc001rvz.2	+	2	88	c.55G>A	c.(55-57)GCC>ACC	p.A19T	GPD1_uc010smp.1_Missense_Mutation_p.A19T|GPD1_uc001rwa.2_Missense_Mutation_p.A19T	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	19					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	CTCAGCCATCGCCAAGATCGT	0.592													A	50498370	G	A	50498370	3	1	271	1	0	0	0	0	1	0	0	0	6604	1087	38	1	61	1	GPD1	12	50498370	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	19630436	50498370	83353525	154	135052											
TRHDE	29953	broad.mit.edu	37	chr12	72866849	72866849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaattttgttactgcagtgGtttggtgaccttgtgacgcc	11	7	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr12:72866849G>T	uc001sxa.2	+	5	1368	c.1338G>T	c.(1336-1338)TGG>TGT	p.W446C		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	446	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TACTGCAGTGGTTTGGTGACC	0.363													T	72866849	G	T	72866849	3	4	271	1	0	0	0	0	1	0	0	0	16476	1270	44	5	1356	5	TRHDE	12	72866849	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	22368479	72866849	60985046	155	135053											
MAB21L1	4081	broad.mit.edu	37	chr13	36049843	36049843	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catctttaccacatcccggtAgctacatttgtctaccgctt	5	14	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr13:36049843A>T	uc001uvc.2	-	1	990	c.433T>A	c.(433-435)TAC>AAC	p.Y145N	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	145					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		ACATCCCGGTAGCTACATTTG	0.557													T	36049843	A	T	36049843	3	4	271	1	0	0	0	0	1	0	0	0	9141	420	15	5	650	5	MAB21L1	13	36049843	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08		36049843	79120035	156	135054											
NKX2-1	7080	broad.mit.edu	37	chr14	36987124	36987124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgcttcctgcgcggcgCgcttggcagcggggccatgt	17	15	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr14:36987124C>T	uc001wtt.2	-	2	816	c.475G>A	c.(475-477)GCG>ACG	p.A159T	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.A189T|NKX2-1_uc001wtv.2_Missense_Mutation_p.A159T|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	159					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTGCGCGGCGCGCTTGGCAGC	0.692			A		NSCLC								T	36987124	C	T	36987124	3	4	271	1	0	0	0	0	1	0	0	0	10449	768	27	1	644	1	NKX2-1	14	36987124	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		36987124	70362416	157	135055											
NRXN3	9369	broad.mit.edu	37	chr14	80164096	80164096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaagtactgaacatggCggctgagaacaaccccaata	9	9	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr14:80164096C>T	uc001xun.2	+	15	3112	c.2621C>T	c.(2620-2622)GCG>GTG	p.A874V	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A242V|NRXN3_uc010asw.2_Missense_Mutation_p.A272V|NRXN3_uc001xur.3_Missense_Mutation_p.A242V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1247	Extracellular (Potential).|Laminin G-like 6.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTGAACATGGCGGCTGAGAAC	0.478													T	80164096	C	T	80164096	3	4	271	1	0	0	0	0	1	0	0	0	10667	768	27	1	3016	1	NRXN3	14	80164096	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	43176972	80164096	27185444	158	135056											
SERPINA10	51156	broad.mit.edu	37	chr14	94754794	94754794	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaggtggaggcaaacTtgcctgcaccgtacatcatg	11	10	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr14:94754794T>G	uc001yct.2	-	3	1287	c.821A>C	c.(820-822)AAG>ACG	p.K274T	SERPINA10_uc001ycu.3_Missense_Mutation_p.K274T	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	274					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGAGGCAAACTTGCCTGCACC	0.488													G	94754794	T	G	94754794	3	3	271	1	0	0	0	0	1	0	0	0	14087	1609	56	5	525	5	SERPINA10	14	94754794	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	14590698	94754794	12594746	159	135057											
MKRN3	7681	broad.mit.edu	37	chr15	23811299	23811299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcgcacgacctttctggtCggaagatggccactgagggt	13	10	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:23811299C>T	uc001ywh.3	+	1	846	c.370C>T	c.(370-372)CGG>TGG	p.R124W	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R124W	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	124						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		CCTTTCTGGTCGGAAGATGGC	0.597													T	23811299	C	T	23811299	3	4	271	1	0	0	0	0	1	0	0	0	9608	875	31	1	372	1	MKRN3	15	23811299	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		23811299	78720093	160	135058											
HAUS2	55142	broad.mit.edu	37	chr15	42855984	42855984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagttggctgtgactttcAttgagagattagaaacccac	11	7	1	4			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:42855984A>G	uc001zqe.2	+	5	487	c.427A>G	c.(427-429)ATT>GTT	p.I143V	HAUS2_uc010udi.1_Missense_Mutation_p.I112V|HAUS2_uc001zqf.2_Missense_Mutation_p.I49V	NM_018097	NP_060567	Q9NVX0	HAUS2_HUMAN	centrosomal protein 27kDa isoform 1	143					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle					0						TGTGACTTTCATTGAGAGATT	0.303													G	42855984	A	G	42855984	3	3	271	1	0	0	0	0	1	0	0	0	6966	217	8	3	445	3	HAUS2	15	42855984	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	19044685	42855984	59675408	161	135059											
CDAN1	146059	broad.mit.edu	37	chr15	43018353	43018353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctcagcaggtgggcaCaggaactgcggttggggtgg	19	8	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:43018353C>A	uc001zql.2	-	25	3327	c.3210G>T	c.(3208-3210)CTG>CTT	p.L1070L	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.L396L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	1070						integral to membrane	protein binding			ovary(2)	2		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)		CAGGTGGGCACAGGAACTGCG	0.562													A	43018353	C	A	43018353	2	1	271	1	0	0	0	0	0	0	0	1	3054	465	17	5		5	CDAN1	15	43018353	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	162369	43018353	59513039	162	135060											
SERF2	10169	broad.mit.edu	37	chr15	44085229	44085229	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagcagagcgactcgGttaagggaaagcgccgagat	14	7	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:44085229G>C	uc001zsz.3	+	2	162	c.64G>C	c.(64-66)GTT>CTT	p.V22L	ELL3_uc001zsx.1_Intron|SERF2_uc010bdq.2_Missense_Mutation_p.V22L|SERF2_uc010uee.1_5'UTR|C15orf63_uc001ztb.2_5'UTR	NM_001018108	NP_001018118	P84101	SERF2_HUMAN	small EDRK-rich factor 2	22						cytosol|nucleus					0		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)		GAGCGACTCGGTTAAGGGAAA	0.597													C	44085229	G	C	44085229	3	2	271	1	0	0	0	0	1	0	0	0	14076	1261	44	5	70	5	SERF2	15	44085229	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1066876	44085229	58446163	163	135061											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350609	51350609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcttctgggcttgaagCgcaagactctttgaactaaa	8	9	4	3	rs140282835		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:51350609C>T	uc001zyy.2	-	3	448	c.348G>A	c.(346-348)GCG>GCA	p.A116A		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	116											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGGCTTGAAGCGCAAGACTCT	0.353													T	51350609	C	T	51350609	2	4	271	1	0	0	0	0	0	0	0	1	16276	755	27	1		1	TNFAIP8L3	15	51350609	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	7265380	51350609	51180783	164	135062											
DMXL2	23312	broad.mit.edu	37	chr15	51773769	51773769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatgagcaaaggatgagttCgaaggtagttataaaaacta	11	3	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:51773769C>T	uc002abf.2	-	24	5759	c.5534G>A	c.(5533-5535)CGA>CAA	p.R1845Q	DMXL2_uc002abd.2_5'UTR|DMXL2_uc010ufy.1_Missense_Mutation_p.R1845Q|DMXL2_uc010bfa.2_Missense_Mutation_p.R1209Q	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1845						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AGGATGAGTTCGAAGGTAGTT	0.348													T	51773769	C	T	51773769	3	4	271	1	0	0	0	0	1	0	0	0	4595	884	31	1	3659	1	DMXL2	15	51773769	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	423160	51773769	50757623	165	135063											
UNC13C	440279	broad.mit.edu	37	chr15	54307481	54307481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgataagactttcagctTcccaaaatttggatctacac	5	10	3	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:54307481T>C	uc002ack.2	+	1	2381	c.2381T>C	c.(2380-2382)TTC>TCC	p.F794S		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	794					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTCAGCTTCCCAAAATTT	0.443													C	54307481	T	C	54307481	3	2	271	1	0	0	0	0	1	0	0	0	16983	1783	62	3	2383	3	UNC13C	15	54307481	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	2533712	54307481	48223911	166	135064											
MYO9A	4649	broad.mit.edu	37	chr15	72190282	72190283	+	Frame_Shift_Del	DEL	TC	TC	-													tgcgctccttctctaaaataTctgtttgctggcgaatctgt							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr15:72190282_72190283delTC	uc002atl.3	-	25	5034_5035	c.4561_4562delGA	c.(4561-4563)GATfs	p.D1521fs	MYO9A_uc010biq.2_Frame_Shift_Del_p.D1141fs|MYO9A_uc002atn.1_Frame_Shift_Del_p.D1502fs|MYO9A_uc002atk.2_Frame_Shift_Del_p.D245fs|MYO9A_uc002atm.1_Frame_Shift_Del_p.D245fs	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1521	Potential.|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			ovary(1)|pancreas(1)|skin(1)	3						CTCTAAAATATCTGTTTGCTGG	0.396													-	72190283	TC	-	72190282	7	5	271	1	0	1	0	1	0	0	0	0	10084	1435	50	0	3156	0	MYO9A	15	72190282	Frame_Shift_Del	DEL	TC	TCGA-HU-A4GP-01A-11D-A25D-08	17882801	72190282	30341110	167	135065											
MSLNL	401827	broad.mit.edu	37	chr16	824881	824881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgagttaagggcaatgCgctgggcagcggtcagccgg	18	9	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr16:824881C>T	uc002cjz.1	-	7	1691	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	213	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						AAGGGCAATGCGCTGGGCAGC	0.706													T	824881	C	T	824881	3	4	271	1	0	0	0	0	1	0	0	0	9882	768	27	1	1510	1	MSLNL	16	824881	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		824881	89529872	168	135066											
CACNA1H	8912	broad.mit.edu	37	chr16	1270395	1270395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggcagacgagcagtggCggccctcggcggagctgggc	20	13	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr16:1270395C>T	uc002cks.2	+	35	6711	c.6463C>T	c.(6463-6465)CGG>TGG	p.R2155W	CACNA1H_uc002ckt.2_Missense_Mutation_p.R2149W|CACNA1H_uc002cku.2_Missense_Mutation_p.R850W|CACNA1H_uc010brj.2_Missense_Mutation_p.R866W|CACNA1H_uc002ckv.2_Missense_Mutation_p.R844W	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2155	Cytoplasmic (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGAGCAGTGGCGGCCCTCGGC	0.726													T	1270395	C	T	1270395	3	4	271	1	0	0	0	0	1	0	0	0	2545	759	27	1	6597	1	CACNA1H	16	1270395	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	445514	1270395	89084358	169	135067											
EARS2	124454	broad.mit.edu	37	chr16	23546255	23546255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtccaacaaggaatcGggcaggaagccatcagcagc	12	10	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr16:23546255G>A	uc002dlt.3	-	4	944	c.912C>T	c.(910-912)CCC>CCT	p.P304P	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.P304P	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	304					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	ACAAGGAATCGGGCAGGAAGC	0.483													A	23546255	G	A	23546255	2	1	271	1	0	0	0	0	0	0	0	1	4878	1103	39	1		1	EARS2	16	23546255	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	22275860	23546255	66808498	170	135068											
CACNG3	10368	broad.mit.edu	37	chr16	24372925	24372925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcccaccctacaggtatcGattccggaggcggtcaagtt	10	14	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr16:24372925G>A	uc002dmf.2	+	4	1889	c.689G>A	c.(688-690)CGA>CAA	p.R230Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	230					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				0				GBM - Glioblastoma multiforme(48;0.0809)		TACAGGTATCGATTCCGGAGG	0.537													A	24372925	G	A	24372925	3	1	271	1	0	0	0	0	1	0	0	0	2558	1058	37	1	703	1	CACNG3	16	24372925	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	826670	24372925	65981828	171	135069											
TMEM219	124446	broad.mit.edu	37	chr16	29982737	29982737	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccctccctaggaggagctGgctctgtgtggctccaggct	13	14	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr16:29982737G>T	uc002duw.2	+	5	761	c.594G>T	c.(592-594)CTG>CTT	p.L198L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Silent_p.L198L|TMEM219_uc010bzk.1_Silent_p.L198L|TMEM219_uc002duz.2_Silent_p.L198L|TMEM219_uc010bzl.1_RNA|TAOK2_uc002dva.1_5'Flank|TAOK2_uc002dvb.1_5'Flank|TAOK2_uc002dvc.1_5'Flank	NM_194280	NP_919256	Q86XT9	TM219_HUMAN	transmembrane protein 219	198						integral to membrane					0						AGGAGGAGCTGGCTCTGTGTG	0.602													T	29982737	G	T	29982737	2	4	271	1	0	0	0	0	0	0	0	1	16139	1335	47	5		5	TMEM219	16	29982737	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	5609812	29982737	60372016	172	135070											
SALL1	6299	broad.mit.edu	37	chr16	51174933	51174933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagggctggggaaaacCgagttagcggaggcttgctg	18	7	0	0	rs79302764		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr16:51174933C>T	uc010vgs.1	-	2	1231	c.1200G>A	c.(1198-1200)TCG>TCA	p.S400S	SALL1_uc010vgr.1_Silent_p.S303S|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	400					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGGAAAACCGAGTTAGCGG	0.493													T	51174933	C	T	51174933	2	4	271	1	0	0	0	0	0	0	0	1	13810	639	23	1		1	SALL1	16	51174933	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	21192196	51174933	39179820	173	135071											
CDH15	1013	broad.mit.edu	37	chr16	89254540	89254540	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatagaggccgtcagcggAgtggatgtgggacgcctgga	18	9	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr16:89254540A>G	uc002fmt.2	+	7	902	c.825A>G	c.(823-825)GGA>GGG	p.G275G		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	275	Cadherin 3.|Extracellular (Potential).				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			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCGTCAGCGGAGTGGATGTGG	0.662													G	89254540	A	G	89254540	2	3	271	1	0	0	0	0	0	0	0	1	3100	291	11	3		3	CDH15	16	89254540	Silent	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	38079607	89254540	1100213	174	135072											
XAF1	54739	broad.mit.edu	37	chr17	6674284	6674284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatcctgcttcccctgcCgatcctaaatcaacatcagg	7	15	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:6674284C>T	uc002gdn.2	+	6	1072	c.830C>T	c.(829-831)CCG>CTG	p.P277L	XAF1_uc002gdm.1_Missense_Mutation_p.P217L|XAF1_uc002gdo.2_Missense_Mutation_p.P258L|XAF1_uc002gdp.2_Missense_Mutation_p.P226L|XAF1_uc002gdq.2_Missense_Mutation_p.P109L|XAF1_uc002gdr.2_Missense_Mutation_p.P207L	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	277					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						CTTCCCCTGCCGATCCTAAAT	0.493													T	6674284	C	T	6674284	3	4	271	1	0	0	0	0	1	0	0	0	17416	652	23	1	852	1	XAF1	17	6674284	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		6674284	74520926	175	135073											
TP53	7157	broad.mit.edu	37	chr17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	9	14	4	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:7577082C>T	uc002gim.2	-	8	1050	c.856G>A	c.(856-858)GAA>AAA	p.E286K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	286	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		AGATTCTCTTCCTCTGTGCGC	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577082	C	T	7577082	3	4	271	1	0	0	0	0	1	0	0	0	16378	864	30	4	430	4	TP53	17	7577082	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	902798	7577082	73618128	176	135074											
SLFN11	91607	broad.mit.edu	37	chr17	33690124	33690124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtttgcaaatgcagggaCgtattctggaattgtccttt	11	6	1	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:33690124C>T	uc010ctp.2	-	4	1145	c.703G>A	c.(703-705)GTC>ATC	p.V235I	SLFN11_uc010ctq.2_Missense_Mutation_p.V235I|SLFN11_uc002hjh.3_Missense_Mutation_p.V235I|SLFN11_uc002hjg.3_Missense_Mutation_p.V235I|SLFN11_uc010ctr.2_Missense_Mutation_p.V235I	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	235						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATGCAGGGACGTATTCTGGA	0.403													T	33690124	C	T	33690124	3	4	271	1	0	0	0	0	1	0	0	0	14733	536	19	1	2018	1	SLFN11	17	33690124	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	26113042	33690124	47505086	177	135075											
GPATCH8	23131	broad.mit.edu	37	chr17	42478621	42478622	+	Frame_Shift_Del	DEL	GC	GC	-													cttgggaggctaacccaggaGcctgggccagtccagtggta							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:42478621_42478622delGC	uc002igw.1	-	8	887_888	c.823_824delGC	c.(823-825)GCTfs	p.A275fs	GPATCH8_uc002igv.1_Frame_Shift_Del_p.A197fs|GPATCH8_uc010wiz.1_Frame_Shift_Del_p.A197fs	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	275						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TAACCCAGGAGCCTGGGCCAGT	0.485													-	42478622	GC	-	42478621	7	5	271	1	0	1	0	1	0	0	0	0	6594	971	34	0	3688	0	GPATCH8	17	42478621	Frame_Shift_Del	DEL	GC	TCGA-HU-A4GP-01A-11D-A25D-08	8788497	42478621	38716589	178	135076											
FZD2	2535	broad.mit.edu	37	chr17	42636253	42636253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgacggcgacctgctgagCggcgtgtgcttcgtaggcct	15	12	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:42636253C>T	uc002igx.1	+	1	1329	c.1197C>T	c.(1195-1197)AGC>AGT	p.S399S		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	399	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCTGCTGAGCGGCGTGTGCT	0.657													T	42636253	C	T	42636253	2	4	271	1	0	0	0	0	0	0	0	1	6130	767	27	1		1	FZD2	17	42636253	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	157632	42636253	38558957	179	135077											
SP6	80320	broad.mit.edu	37	chr17	45924989	45924989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggtgcgccttcaggtgCgacgtcttggcgtaggcttt	15	11	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:45924989C>T	uc002img.1	-	2	1139	c.807G>A	c.(805-807)TCG>TCA	p.S269S	SP6_uc002imh.1_Silent_p.S269S	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	269	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCTTCAGGTGCGACGTCTTGG	0.662													T	45924989	C	T	45924989	2	4	271	1	0	0	0	0	0	0	0	1	14968	755	27	1		1	SP6	17	45924989	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	3288736	45924989	35270221	180	135078											
MTMR4	9110	broad.mit.edu	37	chr17	56589814	56589814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatggcaatgagggcatcGgctgcccggcccaggaactc	15	12	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:56589814G>A	uc002iwj.2	-	4	257	c.147C>T	c.(145-147)GCC>GCT	p.A49A	MTMR4_uc010dcx.1_Silent_p.A63A	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	49						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAGGGCATCGGCTGCCCGGC	0.527													A	56589814	G	A	56589814	2	1	271	1	0	0	0	0	0	0	0	1	9946	1103	39	1		1	MTMR4	17	56589814	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	10664825	56589814	24605396	181	135079											
TEX14	56155	broad.mit.edu	37	chr17	56700326	56700326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaaggatccactgattgCccgaaaatgctgctgcatgg	11	10	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr17:56700326C>T	uc010dcz.1	-	4	417	c.299G>A	c.(298-300)GGC>GAC	p.G100D	TEX14_uc002iwr.1_Missense_Mutation_p.G100D|TEX14_uc002iws.1_Missense_Mutation_p.G100D|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	100	ANK 3.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCACTGATTGCCCGAAAATGC	0.547													T	56700326	C	T	56700326	3	4	271	1	0	0	0	0	1	0	0	0	15775	739	26	2	4296	2	TEX14	17	56700326	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	110512	56700326	24494884	182	135080											
C19orf21	126353	broad.mit.edu	37	chr19	758149	758149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagattccatcctcagcccGgccccagatgcccgtgcggc	10	18	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:758149G>A	uc002lpo.2	+	2	1286	c.1203G>A	c.(1201-1203)CCG>CCA	p.P401P		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	401										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|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)		TCCTCAGCCCGGCCCCAGATG	0.701													A	758149	G	A	758149	2	1	271	1	0	0	0	0	0	0	0	1	1913	1103	39	1		1	C19orf21	19	758149	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		758149	58370834	183	135081											
REXO1	57455	broad.mit.edu	37	chr19	1820356	1820356	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggatgacggtggggactttGcccccaaactctttggggat	14	10	1	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:1820356G>T	uc002lua.3	-	6	2528	c.2433C>A	c.(2431-2433)GGC>GGA	p.G811G	REXO1_uc010dsq.2_Silent_p.G120G|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_5'Flank|uc002lub.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	811						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		TGGGGACTTTGCCCCCAAACT	0.552													T	1820356	G	T	1820356	2	4	271	1	0	0	0	0	0	0	0	1	13241	1306	46	5		5	REXO1	19	1820356	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1062207	1820356	57308627	184	135082											
ZNF57	126295	broad.mit.edu	37	chr19	2918038	2918038	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgaggatgcacactggagaGaagccttatgagtgtaaaca	12	6	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:2918038G>C	uc002lwr.2	+	4	1567	c.1419G>C	c.(1417-1419)GAG>GAC	p.E473D	ZNF57_uc010xha.1_Missense_Mutation_p.E441D	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)		ACACTGGAGAGAAGCCTTATG	0.443													C	2918038	G	C	2918038	3	2	271	1	0	0	0	0	1	0	0	0	17998	933	33	5	1433	5	ZNF57	19	2918038	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1097682	2918038	56210945	185	135083											
INSR	3643	broad.mit.edu	37	chr19	7132175	7132175	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatggagacttacaatagtCtgtcacgtagaaataggtgg	11	7	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:7132175C>T	uc002mgd.1	-	14	2945	c.2836G>A	c.(2836-2838)GAC>AAC	p.D946N	INSR_uc002mge.1_Missense_Mutation_p.D934N	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	946	Fibronectin type-III 3.|Extracellular (Potential).				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			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTACAATAGTCTGTCACGTAG	0.602													T	7132175	C	T	7132175	3	4	271	1	0	0	0	0	1	0	0	0	7773	913	32	4	1348	4	INSR	19	7132175	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	4214137	7132175	51996808	186	135084											
MUC16	94025	broad.mit.edu	37	chr19	9071717	9071717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgaaggtgtcaggtggCactgtggacttatcatggtc	14	8	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:9071717C>T	uc002mkp.2	-	3	15933	c.15729G>A	c.(15727-15729)GTG>GTA	p.V5243V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5245	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTCAGGTGGCACTGTGGACT	0.488													T	9071717	C	T	9071717	2	4	271	1	0	0	0	0	0	0	0	1	9973	697	25	2		2	MUC16	19	9071717	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	1939542	9071717	50057266	187	135085											
ZNF443	10224	broad.mit.edu	37	chr19	12542652	12542653	+	Frame_Shift_Ins	INS	-	-	TT													agggatgaatgacccatgacINStttttctcctctcatactgc							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:12542651_12542652A>ATT	uc002mtu.3	-	3	532_533	c.334_335T>AAT	c.(334-336)gtcfs	p.V112fs		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	112					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATGACCCATGACTTTTTCTCCT	0.421													TT	12542653	-	TT	12542652	7	5	271	1	0	1	1	0	0	0	0	0	17913	565	20	0	1685	0	ZNF443	19	12542652	Frame_Shift_Ins	INS	-	TCGA-HU-A4GP-01A-11D-A25D-08	3470935	12542652	46586331	188	135086	697	2									
ZNF443	10224	broad.mit.edu	37	chr19	12542658	12542658	+	Missense_Mutation	SNP	C	C	T													tgaatgacccatgactttttCtcctctcatactgctttcac							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:12542658C>T	uc002mtu.2	-	4	526	c.328G>A	c.(328-330)GAA>AAA	p.E110K		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	110					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						ATGACTTTTTCTCCTCTCATA	0.433													T	12542658	C	T	12542658	3	4	271	1	0	0	0	0	1	0	0	0	17913	922	32	4	1691	4	ZNF443	19	12542658	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	6	12542658	46586325	189	135087	697	2									
NDUFB7	4713	broad.mit.edu	37	chr19	14677059	14677059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgctcccgctcaaactcCttcatgcgcatcacatagct	5	18	3	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:14677059C>T	uc002mzg.2	-	3	374	c.300G>A	c.(298-300)AAG>AAA	p.K100K		NM_004146	NP_004137	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	100					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)	GCTCAAACTCCTTCATGCGCA	0.672													T	14677059	C	T	14677059	2	4	271	1	0	0	0	0	0	0	0	1	10286	680	24	4		4	NDUFB7	19	14677059	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	2134401	14677059	44451924	190	135088											
ZNF675	171392	broad.mit.edu	37	chr19	23836362	23836362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattggataaaagctttgCcacattcttcacatttgtag	8	7	2	0	rs150723446		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:23836362C>T	uc002nri.2	-	4	1555	c.1373G>A	c.(1372-1374)GGC>GAC	p.G458D		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	458	C2H2-type 12.				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			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAAGCTTTGCCACATTCTTC	0.353													T	23836362	C	T	23836362	3	4	271	1	0	0	0	0	1	0	0	0	18079	739	26	2	337	2	ZNF675	19	23836362	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	9159303	23836362	35292621	191	135089											
WTIP	126374	broad.mit.edu	37	chr19	34991055	34991055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgggctgcagctgagcGgggaggagggacgccgttgc	20	10	0	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:34991055G>A	uc002nvm.2	+	8	1174	c.1174G>A	c.(1174-1176)GGG>AGG	p.G392R		NM_001080436	NP_001073905			Wilms tumor 1 interacting protein												0	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)			GCAGCTGAGCGGGGAGGAGGG	0.672													A	34991055	G	A	34991055	3	1	271	1	0	0	0	0	1	0	0	0	17407	1116	39	1	1204	1	WTIP	19	34991055	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	11154693	34991055	24137928	192	135090											
ZNF599	148103	broad.mit.edu	37	chr19	35250996	35250996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgacatcagccatataaCgacaggctttcccacactca	6	13	2	1	rs149040820	byFrequency	TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:35250996C>T	uc010edn.1	-	4	1098	c.710G>A	c.(709-711)CGT>CAT	p.R237H	ZNF599_uc010edm.1_Missense_Mutation_p.R200H	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	237	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	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)			AGCCATATAACGACAGGCTTT	0.473													T	35250996	C	T	35250996	3	4	271	1	0	0	0	0	1	0	0	0	18026	536	19	1	1060	1	ZNF599	19	35250996	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	259941	35250996	23877987	193	135091											
ARHGAP33	115703	broad.mit.edu	37	chr19	36276129	36276129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagcggaagccagGgggcagcagctggaagacgt	19	8	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:36276129G>C	uc002obr.1	+	18	1845	c.1760G>C	c.(1759-1761)GGG>GCG	p.G587A	ARHGAP33_uc002obs.1_Missense_Mutation_p.G587A|ARHGAP33_uc002obt.1_Missense_Mutation_p.G451A|ARHGAP33_uc010eel.2_Missense_Mutation_p.G175A|ARHGAP33_uc002obv.1_Missense_Mutation_p.G175A	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	587					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CGGAAGCCAGGGGGCAGCAGC	0.687													C	36276129	G	C	36276129	3	2	271	1	0	0	0	0	1	0	0	0	882	1232	43	5	1830	5	ARHGAP33	19	36276129	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	1025133	36276129	22852854	194	135092											
ZNF570	148268	broad.mit.edu	37	chr19	37975729	37975729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagccagaattcacaccttgCtcaacatcagagaattcata	5	11	4	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:37975729C>A	uc002ogk.1	+	5	1734	c.1205C>A	c.(1204-1206)GCT>GAT	p.A402D	ZNF570_uc010efl.1_Missense_Mutation_p.A458D|ZNF570_uc010xtr.1_Missense_Mutation_p.A199D	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	402	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACCTTGCTCAACATCAG	0.423													A	37975729	C	A	37975729	3	1	271	1	0	0	0	0	1	0	0	0	17999	797	28	5	1219	5	ZNF570	19	37975729	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	1699600	37975729	21153254	195	135093											
PEG3	5178	broad.mit.edu	37	chr19	57326846	57326846	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctccctatcatgaatcttCtggtgctcagtgaggtcaga	9	10	6	3	rs145274958	byFrequency	TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:57326846C>A	uc002qnu.2	-	7	3315	c.2964G>T	c.(2962-2964)CAG>CAT	p.Q988H	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q959H|PEG3_uc002qnv.2_Missense_Mutation_p.Q988H|PEG3_uc002qnw.2_Missense_Mutation_p.Q864H|PEG3_uc002qnx.2_Missense_Mutation_p.Q862H|PEG3_uc010etr.2_Missense_Mutation_p.Q988H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	988	C2H2-type 5.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATGAATCTTCTGGTGCTCAG	0.502													A	57326846	C	A	57326846	3	1	271	1	0	0	0	0	1	0	0	0	11720	912	32	5	1806	5	PEG3	19	57326846	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	19351117	57326846	1802137	196	135094											
ZNF749	388567	broad.mit.edu	37	chr19	57955724	57955724	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcaatatgcaccagagagTtcatgctggcaaaaggcttt	9	9	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr19:57955724T>A	uc002qoq.2	+	3	1462	c.1208T>A	c.(1207-1209)GTT>GAT	p.V403D	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	403	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CACCAGAGAGTTCATGCTGGC	0.423													A	57955724	T	A	57955724	3	1	271	1	0	0	0	0	1	0	0	0	18128	1725	60	5	1218	5	ZNF749	19	57955724	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	628878	57955724	1173259	197	135095											
SIRPB1	10326	broad.mit.edu	37	chr20	1558984	1558984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccacgctgtactcacCgcgcacagacagctcagtgc	11	16	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr20:1558984C>T	uc010gai.2	-	2	532	c.433G>A	c.(433-435)GCC>ACC	p.A145T	SIRPB1_uc002wfk.3_Missense_Mutation_p.E145K	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	145	Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						CTGTACTCACCGCGCACAGAC	0.552													T	1558984	C	T	1558984	3	4	271	1	0	0	0	0	1	0	0	0	14333	666	23	1	779	1	SIRPB1	20	1558984	Missense_Mutation	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08		1558984	61466536	198	135096											
RRBP1	6238	broad.mit.edu	37	chr20	17622546	17622547	+	Frame_Shift_Ins	INS	-	-	GGTC													cgtttcagaatcgccacaggINSgtcacccttctgagtggcct							TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr20:17622545_17622546G>GGGTC	uc002wpw.1	-	4	1058_1059	c.781_782C>GACCC	c.(781-783)cctfs	p.P261fs	RRBP1_uc002wpu.3_Frame_Shift_Ins_p.P35fs|RRBP1_uc010gcl.1_Frame_Shift_Ins_p.P35fs|RRBP1_uc002wpv.1_Frame_Shift_Ins_p.P261fs	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	694	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				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						AATCGCCACAGGGTCACCCTTC	0.554													GGTC	17622547	-	GGTC	17622546	7	5	271	1	0	1	1	0	0	0	0	0	13678	1232	43	0	2236	0	RRBP1	20	17622546	Frame_Shift_Ins	INS	-	TCGA-HU-A4GP-01A-11D-A25D-08	16063562	17622546	45402974	199	135097											
PTPRT	11122	broad.mit.edu	37	chr20	41101196	41101196	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttctgtgggccatgtAccggatctgcaaaacatgca	10	12	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr20:41101196A>C	uc002xkg.2	-	8	1344	c.1160T>G	c.(1159-1161)GTA>GGA	p.V387G	PTPRT_uc010ggj.2_Missense_Mutation_p.V387G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	387	Extracellular (Potential).|Fibronectin type-III 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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGCCATGTACCGGATCTGC	0.547													C	41101196	A	C	41101196	3	2	271	1	0	0	0	0	1	0	0	0	12812	391	14	5	3322	5	PTPRT	20	41101196	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	23478650	41101196	21924324	200	135098											
SLC12A5	57468	broad.mit.edu	37	chr20	44665965	44665965	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgtgggcctctgcttcTacctgggcactacctttgca	11	14	2	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr20:44665965T>A	uc010zxl.1	+	6	698	c.622T>A	c.(622-624)TAC>AAC	p.Y208N	SLC12A5_uc002xra.2_Missense_Mutation_p.Y185N|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.Y185N	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	208	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTCTGCTTCTACCTGGGCAC	0.572													A	44665965	T	A	44665965	3	1	271	1	0	0	0	0	1	0	0	0	14386	1522	53	5	700	5	SLC12A5	20	44665965	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	3564769	44665965	18359555	201	135099											
RAB22A	57403	broad.mit.edu	37	chr20	56886153	56886153	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtttgtggaagacagttttGatccaaacatcaacccaaca	8	9	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr20:56886153G>T	uc002xyz.2	+	2	353	c.91G>T	c.(91-93)GAT>TAT	p.D31Y		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	31					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AGACAGTTTTGATCCAAACAT	0.388													T	56886153	G	T	56886153	3	4	271	1	0	0	0	0	1	0	0	0	12909	1290	45	5	97	5	RAB22A	20	56886153	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	12220188	56886153	6139367	202	135100											
TPTE	7179	broad.mit.edu	37	chr21	10941929	10941929	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattggatttctatagaaAgactgccttccagaagatgg	10	6	1	5			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr21:10941929A>C	uc002yip.1	-	14	1142	c.774T>G	c.(772-774)TCT>TCG	p.S258S	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.S240S|TPTE_uc002yir.1_Silent_p.S220S|TPTE_uc010gkv.1_Silent_p.S120S	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	258	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		TTCTATAGAAAGACTGCCTTC	0.313													C	10941929	A	C	10941929	2	2	271	1	0	0	0	0	0	0	0	1	16427	59	3	5		5	TPTE	21	10941929	Silent	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08		10941929	37187966	203	135101											
TPTE	7179	broad.mit.edu	37	chr21	10941963	10941963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatggaaatgacatagcaAtaatacgttctaaaagtcaa	7	5	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr21:10941963A>C	uc002yip.1	-	14	1108	c.740T>G	c.(739-741)ATT>AGT	p.I247S	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I229S|TPTE_uc002yir.1_Missense_Mutation_p.I209S|TPTE_uc010gkv.1_Missense_Mutation_p.I109S	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	247	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)		TGACATAGCAATAATACGTTC	0.284													C	10941963	A	C	10941963	3	2	271	1	0	0	0	0	1	0	0	0	16427	101	4	5	959	5	TPTE	21	10941963	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	34	10941963	37187932	204	135102											
COL6A2	1292	broad.mit.edu	37	chr21	47545973	47545973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacttgcgggcgctgtgCgaccgcgacgtcacagtgac	13	14	2	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr21:47545973C>T	uc002zia.1	+	26	2326	c.2244C>T	c.(2242-2244)TGC>TGT	p.C748C	COL6A2_uc002zhy.1_Silent_p.C748C|COL6A2_uc002zhz.1_Silent_p.C748C|COL6A2_uc002zib.1_Silent_p.C154C|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	748	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCGCTGTGCGACCGCGACG	0.627													T	47545973	C	T	47545973	2	4	271	1	0	0	0	0	0	0	0	1	3700	776	27	1		1	COL6A2	21	47545973	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	36604010	47545973	583922	205	135103											
COL6A2	1292	broad.mit.edu	37	chr21	47552310	47552310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccatgcgcaagcagaaCgtggtacccaccgtgctggc	11	15	0	1	rs143569686		TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr21:47552310C>T	uc002zia.1	+	28	2986	c.2904C>T	c.(2902-2904)AAC>AAT	p.N968N	COL6A2_uc002zib.1_Silent_p.N374N|COL6A2_uc002zic.1_Missense_Mutation_p.T43M|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	968	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			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCAAGCAGAACGTGGTACCCA	0.667													T	47552310	C	T	47552310	2	4	271	1	0	0	0	0	0	0	0	1	3700	535	19	1		1	COL6A2	21	47552310	Silent	SNP	C	TCGA-HU-A4GP-01A-11D-A25D-08	6337	47552310	577585	206	135104											
FAM83F	113828	broad.mit.edu	37	chr22	40417654	40417654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgaaagacctggttacGgtggagcaggtgctgccccc	13	12	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr22:40417654G>A	uc003ayk.1	+	4	1234	c.1140G>A	c.(1138-1140)ACG>ACA	p.T380T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	380										breast(1)	1						ACCTGGTTACGGTGGAGCAGG	0.672													A	40417654	G	A	40417654	2	1	271	1	0	0	0	0	0	0	0	1	5638	1103	39	1		1	FAM83F	22	40417654	Silent	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		40417654	10886912	207	135105											
TBC1D22A	25771	broad.mit.edu	37	chr22	47274558	47274558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaacagaggaattacGgaggttgagctggtccggaa	13	7	2	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chr22:47274558G>A	uc003bib.2	+	5	782	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	TBC1D22A_uc010haf.2_Missense_Mutation_p.R186Q|TBC1D22A_uc003bic.2_Missense_Mutation_p.R157Q|TBC1D22A_uc003bie.2_Missense_Mutation_p.R138Q|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R169Q	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	216						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		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)		GAGGAATTACGGAGGTTGAGC	0.488													A	47274558	G	A	47274558	3	1	271	1	0	0	0	0	1	0	0	0	15608	1116	39	1	665	1	TBC1D22A	22	47274558	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08	6856904	47274558	4030008	208	135106											
GPRASP1	9737	broad.mit.edu	37	chrX	101912116	101912116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggaacatggtacttaGcccagaaggggaagatcagg	13	9	1	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chrX:101912116G>A	uc004ejj.3	+	5	4076	c.3275G>A	c.(3274-3276)AGC>AAC	p.S1092N	GPRASP1_uc004eji.3_Missense_Mutation_p.S1092N|GPRASP1_uc010nod.2_Missense_Mutation_p.S1092N	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1092	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						ATGGTACTTAGCCCAGAAGGG	0.473													A	101912116	G	A	101912116	3	1	271	1	0	0	0	0	1	0	0	0	6722	971	34	2	3277	2	GPRASP1	23	101912116	Missense_Mutation	SNP	G	TCGA-HU-A4GP-01A-11D-A25D-08		101912116	53358444	209	135107											
IRS4	8471	broad.mit.edu	37	chrX	107975886	107975886	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgtcgttgtcagaaTcttctctctccgggggtctt	11	11	5	1			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chrX:107975886T>A	uc004eoc.2	-	1	3722	c.3689A>T	c.(3688-3690)GAT>GTT	p.D1230V		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1230						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GTTGTCAGAATCTTCTCTCTC	0.552													A	107975886	T	A	107975886	3	1	271	1	0	0	0	0	1	0	0	0	7842	1435	50	5	88	5	IRS4	23	107975886	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	6063770	107975886	47294674	210	135108											
IRS4	8471	broad.mit.edu	37	chrX	107978368	107978368	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgggccacaggctcgcTgggtgttacgaagcgcctgg	18	10	0	0			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chrX:107978368T>A	uc004eoc.2	-	1	1240	c.1207A>T	c.(1207-1209)AGC>TGC	p.S403C		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	403						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						ACAGGCTCGCTGGGTGTTACG	0.622													A	107978368	T	A	107978368	3	1	271	1	0	0	0	0	1	0	0	0	7842	1580	55	5	2570	5	IRS4	23	107978368	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	2482	107978368	47292192	211	135109											
DDX26B	203522	broad.mit.edu	37	chrX	134681170	134681170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaaaacaggaccagAtccacttcctattggagaag	8	8	0	3			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chrX:134681170A>G	uc004eyw.3	+	6	1085	c.722A>G	c.(721-723)GAT>GGT	p.D241G		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	241											0	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGACCAGATCCACTTCCT	0.308													G	134681170	A	G	134681170	3	3	271	1	0	0	0	0	1	0	0	0	4353	333	12	3	744	3	DDX26B	23	134681170	Missense_Mutation	SNP	A	TCGA-HU-A4GP-01A-11D-A25D-08	26702802	134681170	20589390	212	135110											
MCF2	4168	broad.mit.edu	37	chrX	138699694	138699694	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaggagtttatgcattTtgaaggtcctgctgagttgt	13	5	0	2			TCGA-HU-A4GP-01A-11D-A25D-08	TCGA-HU-A4GP-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c332efb-4379-400e-8210-632c08500d5d	b855c7e5-16d1-4e02-9862-69c37bf8f5b0	g.chrX:138699694T>A	uc004fau.2	-	8	1271	c.977A>T	c.(976-978)AAA>ATA	p.K326I	MCF2_uc004fav.2_Missense_Mutation_p.K326I|MCF2_uc011mwl.1_Missense_Mutation_p.K287I|MCF2_uc010nsh.1_Missense_Mutation_p.K326I|MCF2_uc011mwm.1_Missense_Mutation_p.K287I|MCF2_uc011mwn.1_Missense_Mutation_p.K471I|MCF2_uc004faw.2_Missense_Mutation_p.K386I|MCF2_uc011mwo.1_Missense_Mutation_p.K386I	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	326					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			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TTTATGCATTTTGAAGGTCCT	0.403													A	138699694	T	A	138699694	3	1	271	1	0	0	0	0	1	0	0	0	9378	1841	64	5	1952	5	MCF2	23	138699694	Missense_Mutation	SNP	T	TCGA-HU-A4GP-01A-11D-A25D-08	4018524	138699694	16570866	213	135111											
KLHL17	339451	broad.mit.edu	37	chr1	898826	898826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgcctgggtgtggccGccttgcatggactcctgtac	14	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:898826G>A	uc001aca.1	+	8	1404	c.1297G>A	c.(1297-1299)GCC>ACC	p.A433T	KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_3'UTR	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	433	Interaction with F-actin (By similarity).|Kelch 2.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	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)		GGGTGTGGCCGCCTTGCATGG	0.637													A	898826	G	A	898826	3	1	272	1	0	0	0	0	1	0	0	0	8372	1087	38	1	1327	1	KLHL17	1	898826	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08		898826	248351795	1	135112											
GLTPD1	80772	broad.mit.edu	37	chr1	1262961	1262961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaccacccctgggtcgtgCgccgcgccgtcaccgtggcc	12	20	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1262961C>T	uc001aeo.2	+	3	878	c.463C>T	c.(463-465)CGC>TGC	p.R155C	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	155						cytoplasm	glycolipid binding|glycolipid transporter activity				0	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)		CTGGGTCGTGCGCCGCGCCGT	0.721													T	1262961	C	T	1262961	3	4	272	1	0	0	0	0	1	0	0	0	6472	768	27	1	469	1	GLTPD1	1	1262961	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	364135	1262961	247987660	2	135113											
ATAD3B	83858	broad.mit.edu	37	chr1	1424619	1424619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcagagccacactgaaCgccttcctgtaccacatggg	9	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1424619C>T	uc001afv.2	+	13	1403	c.1302C>T	c.(1300-1302)AAC>AAT	p.N434N	ATAD3B_uc001afx.2_Silent_p.N388N|ATAD3B_uc001afy.2_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	434							ATP binding|nucleoside-triphosphatase activity				0	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)		CCACACTGAACGCCTTCCTGT	0.592													T	1424619	C	T	1424619	2	4	272	1	0	0	0	0	0	0	0	1	1074	535	19	1		1	ATAD3B	1	1424619	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	161658	1424619	247826002	3	135114											
SSU72	29101	broad.mit.edu	37	chr1	1480327	1480327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctggaatctttctggccGgggcttgattctcttatttc	10	9	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1480327G>A	uc001agd.2	-	3	605	c.280C>T	c.(280-282)CGG>TGG	p.R94W	SSU72_uc009vkg.1_Missense_Mutation_p.R94W	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Ssu72 RNA polymerase II CTD phosphatase homolog	94					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity				0	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTTTCTGGCCGGGGCTTGATT	0.473													A	1480327	G	A	1480327	3	1	272	1	0	0	0	0	1	0	0	0	15201	1115	39	1	316	1	SSU72	1	1480327	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	55708	1480327	247770294	4	135115											
NADK	65220	broad.mit.edu	37	chr1	1685037	1685037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatctcttgtctcttccGtccatcaaaggacacccatg	8	14	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1685037G>A	uc009vkw.2	-	11	1274	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	NADK_uc001aic.2_Missense_Mutation_p.R385W|NADK_uc001aid.3_Missense_Mutation_p.R385W|NADK_uc001aie.2_Missense_Mutation_p.R530W|NADK_uc010nyv.1_Missense_Mutation_p.R353W	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	385					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	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)		TGTCTCTTCCGTCCATCAAAG	0.647													A	1685037	G	A	1685037	3	1	272	1	0	0	0	0	1	0	0	0	10137	1144	40	1	195	1	NADK	1	1685037	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	204710	1685037	247565584	5	135116											
SKI	6497	broad.mit.edu	37	chr1	2234746	2234746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctgtgttcaccctcGccagcgcctctctgctttcc	9	18	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:2234746G>A	uc001aja.3	+	3	1190	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	373					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			lung(1)|central_nervous_system(1)	2	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)		GTTCACCCTCGCCAGCGCCTC	0.612													A	2234746	G	A	2234746	3	1	272	1	0	0	0	0	1	0	0	0	14357	1087	38	1	1128	1	SKI	1	2234746	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	549709	2234746	247015875	6	135117											
CHD5	26038	broad.mit.edu	37	chr1	6204126	6204126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttgtcgtagtaggggAtgtcgatgtcatcgatctcc	14	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:6204126A>G	uc001amb.1	-	12	1992	c.1892T>C	c.(1891-1893)ATC>ACC	p.I631T	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	631	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		GTAGTAGGGGATGTCGATGTC	0.602													G	6204126	A	G	6204126	3	3	272	1	0	0	0	0	1	0	0	0	3328	333	12	3	4092	3	CHD5	1	6204126	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3969380	6204126	243046495	7	135118											
TNFRSF25	8718	broad.mit.edu	37	chr1	6525249	6525249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcaggtggagttgccgCagggctccgtgcaaggggcc	18	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:6525249C>T	uc001ane.2	-	3	282	c.194G>A	c.(193-195)TGC>TAC	p.C65Y	TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Intron|TNFRSF25_uc009vlz.2_Intron|TNFRSF25_uc001anf.2_Missense_Mutation_p.C65Y|TNFRSF25_uc001ang.2_Intron|TNFRSF25_uc001anh.2_Missense_Mutation_p.C65Y|TNFRSF25_uc001ani.1_Missense_Mutation_p.C65Y	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	65	TNFR-Cys 1.|Extracellular (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	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)		GGAGTTGCCGCAGGGCTCCGT	0.592													T	6525249	C	T	6525249	3	4	272	1	0	0	0	0	1	0	0	0	16293	710	25	2	1122	2	TNFRSF25	1	6525249	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	321123	6525249	242725372	8	135119											
RERE	473	broad.mit.edu	37	chr1	8424212	8424212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacggtggcgggtccacGggcttctcaatgggcgggag	17	9	1	0	rs146907591		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:8424212G>A	uc001ape.2	-	16	2454	c.1644C>T	c.(1642-1644)CCC>CCT	p.P548P	RERE_uc001apf.2_Silent_p.P548P|RERE_uc010nzx.1_Silent_p.P280P|RERE_uc001apd.2_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	548					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			ovary(1)|central_nervous_system(1)	2	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)		GCGGGTCCACGGGCTTCTCAA	0.582													A	8424212	G	A	8424212	2	1	272	1	0	0	0	0	0	0	0	1	13231	1103	39	1		1	RERE	1	8424212	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1898963	8424212	240826409	9	135120											
ENO1	2023	broad.mit.edu	37	chr1	8927232	8927232	+	Frame_Shift_Del	DEL	G	G	-													gtcagcgatgtggcggtacaGggggacccccttctcaacgg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:8927231_8927231AG>A	uc001apj.2	-	5	911	c.389_389CT>T	c.(388-390)ctgfs	p.L130fs	ENO1_uc001api.2_Frame_Shift_Del_p.L37fs|ENO1_uc009vml.2_Frame_Shift_Del_p.L130fs	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	130	Required for repression of c-myc promoter activity.				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)		GTGGCGGTACAGGGGGACCCC	0.562													-	8927232	G	-	8927232	7	5	272	1	0	1	0	1	0	0	0	0	5121	991	35	0	944	0	ENO1	1	8927232	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	503020	8927232	240323389	10	135121											
UBE4B	10277	broad.mit.edu	37	chr1	10163014	10163014	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcaccaggagccttcCtcgggccctgaagtgtctga	10	14	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:10163014C>A	uc001aqs.3	+	5	1157	c.444C>A	c.(442-444)TCC>TCA	p.S148S	UBE4B_uc001aqr.3_Silent_p.S148S|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	148					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		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)		AGGAGCCTTCCTCGGGCCCTG	0.423													A	10163014	C	A	10163014	2	1	272	1	0	0	0	0	0	0	0	1	16880	668	24	5		5	UBE4B	1	10163014	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1235782	10163014	239087607	11	135122											
CASZ1	54897	broad.mit.edu	37	chr1	10699617	10699617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcacggcgcagtcggcGctggagctgaactggcagaa	17	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:10699617G>A	uc001aro.2	-	21	4982	c.4662C>T	c.(4660-4662)AGC>AGT	p.S1554S		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		CGCAGTCGGCGCTGGAGCTGA	0.657													A	10699617	G	A	10699617	2	1	272	1	0	0	0	0	0	0	0	1	2685	1078	38	1		1	CASZ1	1	10699617	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	536603	10699617	238551004	12	135123											
CASZ1	54897	broad.mit.edu	37	chr1	10708013	10708013	+	Frame_Shift_Del	DEL	G	G	-													tgcttccaggcgagcagggtGggggtggagggcacggaggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:10708013delG	uc001aro.2	-	16	3662	c.3342delC	c.(3340-3342)CCCfs	p.P1114fs	CASZ1_uc001arp.1_Frame_Shift_Del_p.P1114fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		CGAGCAGGGTGGGGGTGGAGG	0.701													-	10708013	G	-	10708013	7	5	272	1	0	1	0	1	0	0	0	0	2685	1335	47	0	1965	0	CASZ1	1	10708013	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	8396	10708013	238542608	13	135124											
TARDBP	23435	broad.mit.edu	37	chr1	11082567	11082567	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggagccaaaccaggccttCggttctggaaataactctta	10	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:11082567C>T	uc001art.2	+	6	1235	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	TARDBP_uc010oap.1_Silent_p.F251F	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	367	Gly-rich.				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			ovary(2)	2	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)		ACCAGGCCTTCGGTTCTGGAA	0.517													T	11082567	C	T	11082567	2	4	272	1	0	0	0	0	0	0	0	1	15554	883	31	1		1	TARDBP	1	11082567	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	374554	11082567	238168054	14	135125											
MTOR	2475	broad.mit.edu	37	chr1	11291032	11291032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgacagcagaggcatccCgggactggtctatcatgcca	13	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:11291032C>T	uc001asd.2	-	18	2850	c.2729G>A	c.(2728-2730)CGG>CAG	p.R910Q		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	910					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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						AGAGGCATCCCGGGACTGGTC	0.522													T	11291032	C	T	11291032	3	4	272	1	0	0	0	0	1	0	0	0	9954	652	23	1	5084	1	MTOR	1	11291032	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	208465	11291032	237959589	15	135126											
KIAA2013	90231	broad.mit.edu	37	chr1	11983333	11983333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctggacggaggacagcCgccccggccacaggttctcg	14	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:11983333C>T	uc001atk.2	-	2	1441	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q	KIAA2013_uc001atl.1_Missense_Mutation_p.R416Q	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	hypothetical protein LOC90231 precursor	416	Extracellular (Potential).					integral to membrane				ovary(1)	1	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)		GGAGGACAGCCGCCCCGGCCA	0.647													T	11983333	C	T	11983333	3	4	272	1	0	0	0	0	1	0	0	0	8267	652	23	1	665	1	KIAA2013	1	11983333	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	692301	11983333	237267288	16	135127											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921076	12921076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacttcttgatctccacagGtgcctccagaaccccttgga	7	14	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:12921076G>A	uc001aum.1	+	4	954	c.867G>A	c.(865-867)AGG>AGA	p.R289R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	289											0	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)		ATCTCCACAGGTGCCTCCAGA	0.458													A	12921076	G	A	12921076	2	1	272	1	0	0	0	0	0	0	0	1	12435	1275	44	4		4	PRAMEF2	1	12921076	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	937743	12921076	236329545	17	135128											
PRAMEF14	729528	broad.mit.edu	37	chr1	13668962	13668962	+	Frame_Shift_Del	DEL	G	G	-													gatgagccacaggaagggcaGggggtgggaccaatgaagat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:13668962delG	uc009vnw.1	-	4	1407	c.1224delC	c.(1222-1224)CCCfs	p.P408fs		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	PRAME family member 14	408											0	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)		AGGAAGGGCAGGGGGTGGGAC	0.557													-	13668962	G	-	13668962	7	5	272	1	0	1	0	1	0	0	0	0	12430	987	35	0	1353	0	PRAMEF14	1	13668962	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	747886	13668962	235581659	18	135129											
PLEKHM2	23207	broad.mit.edu	37	chr1	16053856	16053856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctggtgctcccgtgCtgagcccccagaccagtcct	10	18	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:16053856C>A	uc010obo.1	+	9	1516	c.1289C>A	c.(1288-1290)GCT>GAT	p.A430D		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	430					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		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)		TGCTCCCGTGCTGAGCCCCCA	0.652													A	16053856	C	A	16053856	3	1	272	1	0	0	0	0	1	0	0	0	12081	797	28	5	1323	5	PLEKHM2	1	16053856	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2384894	16053856	233196765	19	135130											
SLC25A34	284723	broad.mit.edu	37	chr1	16065731	16065731	+	Frame_Shift_Del	DEL	G	G	-													ttccccagggccagctctatGggggcctcaccgactgcatg					rs144853636	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:16065730_16065730TG>T	uc001axb.1	+	4	916	c.744_744TG>T	c.(742-744)tatfs	p.Y248fs		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	248					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGCTCTATGGGGGCCTCA	0.657													-	16065731	G	-	16065731	7	5	272	1	0	1	0	1	0	0	0	0	14498	1348	47	0	763	0	SLC25A34	1	16065731	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	11875	16065731	233184890	20	135131											
EPHA2	1969	broad.mit.edu	37	chr1	16455930	16455930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaaggggcctgacttactCgttggtcatctgcaccacct	11	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:16455930C>T	uc001aya.1	-	16	2961	c.2824G>A	c.(2824-2826)GAC>AAC	p.D942N		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	942	SAM.|Cytoplasmic (Potential).|Negatively regulates interaction with ARHGEF16.				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	CTGACTTACTCGTTGGTCATC	0.637													T	16455930	C	T	16455930	3	4	272	1	0	0	0	0	1	0	0	0	5167	898	31	1	114	1	EPHA2	1	16455930	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	390199	16455930	232794691	21	135132											
PADI1	29943	broad.mit.edu	37	chr1	17565179	17565179	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagaagaaagaagagggTtatggggaggcagcccagtt	16	5	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:17565179T>G	uc001bah.1	+	13	1619	c.1527T>G	c.(1525-1527)GGT>GGG	p.G509G	PADI1_uc010oco.1_Silent_p.G66G|PADI1_uc010ocp.1_Silent_p.G66G|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	509					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		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;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAGAAGAGGGTTATGGGGAGG	0.612													G	17565179	T	G	17565179	2	3	272	1	0	0	0	0	0	0	0	1	11377	1712	60	5		5	PADI1	1	17565179	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1109249	17565179	231685442	22	135133											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17975138	17975138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatcctggcctgctgcatcCctgccttctcctcccgggca	9	19	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:17975138C>A	uc001ban.2	+	22	2521	c.2362C>A	c.(2362-2364)CCT>ACT	p.P788T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P749T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P749T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P744T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.P549T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.P561T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.P491T|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	788					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		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)		CTGCTGCATCCCTGCCTTCTC	0.642													A	17975138	C	A	17975138	3	1	272	1	0	0	0	0	1	0	0	0	895	623	22	5	2444	5	ARHGEF10L	1	17975138	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	409959	17975138	231275483	23	135134											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809182	18809182	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacccgctcacggggatctgGagcgaggtgtgcccgctgaa	15	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:18809182G>A	uc001bax.2	+	1	1759	c.1707G>A	c.(1705-1707)TGG>TGA	p.W569*	KLHDC7A_uc009vpg.2_Nonsense_Mutation_p.W351*	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	569	Kelch 3.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		CGGGGATCTGGAGCGAGGTGT	0.672													A	18809182	G	A	18809182	4	1	272	1	0	0	0	0	0	1	0	0	8360	1183	41	4	1709	4	KLHDC7A	1	18809182	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	834044	18809182	230441439	24	135135											
TAS1R2	80834	broad.mit.edu	37	chr1	19180947	19180947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtgggccccactcGcggaactcactgaagcccgg	12	17	1	1	rs142043699		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:19180947G>A	uc001bba.1	-	3	1018	c.1017C>T	c.(1015-1017)CGC>CGT	p.R339R		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	339	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	GGCCCCACTCGCGGAACTCAC	0.652													A	19180947	G	A	19180947	2	1	272	1	0	0	0	0	0	0	0	1	15560	1074	38	1		1	TAS1R2	1	19180947	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	371765	19180947	230069674	25	135136											
UBR4	23352	broad.mit.edu	37	chr1	19488089	19488089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtcctctcaccaaacaGctgccatcttccttggctcc	8	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:19488089G>A	uc001bbi.2	-	37	5173	c.5169C>T	c.(5167-5169)AGC>AGT	p.S1723S	UBR4_uc001bbm.1_Silent_p.S934S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1723	UBR-type.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		TCACCAAACAGCTGCCATCTT	0.493													A	19488089	G	A	19488089	2	1	272	1	0	0	0	0	0	0	0	1	16901	962	34	2		2	UBR4	1	19488089	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	307142	19488089	229762532	26	135137											
KIF17	57576	broad.mit.edu	37	chr1	21031055	21031055	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattgatgcgcggcttgttCctgatgttcttggcccggtt	12	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:21031055C>T	uc001bdr.3	-	5	1126	c.1008G>A	c.(1006-1008)AGG>AGA	p.R336R	KIF17_uc001bds.3_Silent_p.R336R	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	336					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		GCGGCTTGTTCCTGATGTTCT	0.587													T	21031055	C	T	21031055	2	4	272	1	0	0	0	0	0	0	0	1	8279	854	30	4		4	KIF17	1	21031055	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1542966	21031055	228219566	27	135138											
ECE1	1889	broad.mit.edu	37	chr1	21582577	21582577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggatggcctcctcgtcccCgccgcccagcagcttcccca	9	22	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:21582577C>T	uc001bek.2	-	8	958	c.883G>A	c.(883-885)GGG>AGG	p.G295R	ECE1_uc001bem.2_Missense_Mutation_p.G279R|ECE1_uc001bej.2_Missense_Mutation_p.G283R|ECE1_uc001bei.2_Missense_Mutation_p.G292R|ECE1_uc010odl.1_Missense_Mutation_p.G295R|ECE1_uc009vqa.1_Missense_Mutation_p.G295R	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	295	Extracellular (Potential).				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			ovary(2)|skin(1)	3		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)		TCCTCGTCCCCGCCGCCCAGC	0.617													T	21582577	C	T	21582577	3	4	272	1	0	0	0	0	1	0	0	0	4889	652	23	1	1477	1	ECE1	1	21582577	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	551522	21582577	227668044	28	135139											
ECE1	1889	broad.mit.edu	37	chr1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaggtgcggtagtgggCggtgaccacctgcagggtgt	21	7	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:21585263C>T	uc001bek.2	-	6	760	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ECE1_uc001bem.2_Missense_Mutation_p.A213T|ECE1_uc001bej.2_Missense_Mutation_p.A217T|ECE1_uc001bei.2_Missense_Mutation_p.A226T|ECE1_uc010odl.1_Missense_Mutation_p.A229T|ECE1_uc009vqa.1_Missense_Mutation_p.A229T	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	229	Extracellular (Potential).				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			ovary(2)|skin(1)	3		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)		CGGTAGTGGGCGGTGACCACC	0.597													T	21585263	C	T	21585263	3	4	272	1	0	0	0	0	1	0	0	0	4889	768	27	1	1683	1	ECE1	1	21585263	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2686	21585263	227665358	29	135140											
HSPG2	3339	broad.mit.edu	37	chr1	22166330	22166330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacctgtggctgagcagcGcaaggtggccgtgtgtccag	15	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:22166330G>A	uc001bfj.2	-	72	9734	c.9694C>T	c.(9694-9696)CGC>TGC	p.R3232C	HSPG2_uc009vqd.2_Missense_Mutation_p.R3233C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3232	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	GCTGAGCAGCGCAAGGTGGCC	0.617													A	22166330	G	A	22166330	3	1	272	1	0	0	0	0	1	0	0	0	7430	1087	38	1	3585	1	HSPG2	1	22166330	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	581067	22166330	227084291	30	135141											
HSPG2	3339	broad.mit.edu	37	chr1	22178284	22178284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctggtggccccactcacGgtaggctaagttggccccct	12	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:22178284G>T	uc001bfj.2	-	54	7046	c.7006C>A	c.(7006-7008)CCT>ACT	p.P2336T	HSPG2_uc009vqd.2_Missense_Mutation_p.P2337T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2336	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CCCCACTCACGGTAGGCTAAG	0.632													T	22178284	G	T	22178284	3	4	272	1	0	0	0	0	1	0	0	0	7430	1130	39	5	6345	5	HSPG2	1	22178284	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	11954	22178284	227072337	31	135142											
LUZP1	7798	broad.mit.edu	37	chr1	23418797	23418797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtctggcttctctctgCcactggatttgatgactcga	10	11	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:23418797C>T	uc001bgk.2	-	4	2342	c.1958G>A	c.(1957-1959)GGC>GAC	p.G653D	LUZP1_uc010odv.1_Missense_Mutation_p.G653D|LUZP1_uc001bgl.2_Missense_Mutation_p.G653D|LUZP1_uc001bgm.1_Missense_Mutation_p.G653D	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	653						nucleus					0		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)		CTTCTCTCTGCCACTGGATTT	0.478													T	23418797	C	T	23418797	3	4	272	1	0	0	0	0	1	0	0	0	9086	739	26	2	1280	2	LUZP1	1	23418797	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1240513	23418797	225831824	32	135143											
HTR1D	3352	broad.mit.edu	37	chr1	23519758	23519758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggaccagagacaccaCgaagaagggcagccagcaga	16	10	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:23519758C>T	uc001bgn.2	-	1	1465	c.955G>A	c.(955-957)GTG>ATG	p.V319M		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	319	Helical; Name=6; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		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)	AGAGACACCACGAAGAAGGGC	0.542													T	23519758	C	T	23519758	3	4	272	1	0	0	0	0	1	0	0	0	7438	536	19	1	182	1	HTR1D	1	23519758	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	100961	23519758	225730863	33	135144											
TCEB3	6924	broad.mit.edu	37	chr1	24077927	24077929	+	In_Frame_Del	DEL	GAG	GAG	-													cacacaaggccctctccaaaGaggagaaccgaaggccaccc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24077926_24077928AGAG>A	uc001bho.3	+	3	969_971	c.909_911AGAG>A	c.(907-912)aaagag>aaAg	p.E305del		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	305					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)		CCCTCTCCAAAGAGGAGAACCGA	0.547											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	24077929	GAG	-	24077927	7	5	272	1	0	1	0	1	0	0	0	0	15678	943	33	0	924	0	TCEB3	1	24077927	In_Frame_Del	DEL	GAG	TCGA-HU-A4GQ-01A-11D-A25D-08	558169	24077927	225172694	34	135145											
TCEB3	6924	broad.mit.edu	37	chr1	24080896	24080896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatactctgttcttgaaccCgttttggagaggtgtacacc	9	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24080896C>T	uc001bho.2	+	7	1875	c.1815C>T	c.(1813-1815)CCC>CCT	p.P605P		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	605	Activation domain (By similarity).|F-box.				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			ovary(1)	1		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)		TTCTTGAACCCGTTTTGGAGA	0.473													T	24080896	C	T	24080896	2	4	272	1	0	0	0	0	0	0	0	1	15678	639	23	1		1	TCEB3	1	24080896	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2969	24080896	225169725	35	135146											
MYOM3	127294	broad.mit.edu	37	chr1	24385441	24385441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgatagtggccacatcCggcagacctctcaccacttt	7	15	1	2	rs140240337	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24385441C>T	uc001bin.3	-	36	4186	c.4023G>A	c.(4021-4023)CCG>CCA	p.P1341P	MYOM3_uc001bil.3_Silent_p.P234P|MYOM3_uc001bim.3_Silent_p.P998P	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1341	Ig-like C2-type 4.									skin(2)|ovary(1)	3		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)		TGGCCACATCCGGCAGACCTC	0.532													T	24385441	C	T	24385441	2	4	272	1	0	0	0	0	0	0	0	1	10093	639	23	1		1	MYOM3	1	24385441	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	304545	24385441	224865180	36	135147											
MYOM3	127294	broad.mit.edu	37	chr1	24417383	24417383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgatggctctcacccGgaaccgatagctctgacctt	9	15	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24417383G>A	uc001bin.3	-	12	1499	c.1336C>T	c.(1336-1338)CGG>TGG	p.R446W	MYOM3_uc001bim.3_Missense_Mutation_p.R103W|MYOM3_uc001bio.2_Missense_Mutation_p.R446W|MYOM3_uc001bip.1_Missense_Mutation_p.R103W	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	446	Fibronectin type-III 1.									skin(2)|ovary(1)	3		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)		GCTCTCACCCGGAACCGATAG	0.632													A	24417383	G	A	24417383	3	1	272	1	0	0	0	0	1	0	0	0	10093	1115	39	1	3081	1	MYOM3	1	24417383	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	31942	24417383	224833238	37	135148											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	272	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2688548	27105931	222144690	38	135149											
PHACTR4	65979	broad.mit.edu	37	chr1	28800273	28800273	+	Frame_Shift_Del	DEL	C	C	-													gatctcacctcgctctccgtCccccccactgcctactcata							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:28800272_28800272TC>T	uc001bpy.3	+	5	1295	c.1060_1060TC>T	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512													-	28800273	C	-	28800273	7	5	272	1	0	1	0	1	0	0	0	0	11812	855	30	0	1103	0	PHACTR4	1	28800273	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1694342	28800273	220450348	39	135150											
RCC1	1104	broad.mit.edu	37	chr1	28856393	28856393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagatgtcacccaagcgCatagctaaaagaaggtcccc	10	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:28856393C>T	uc001bqg.1	+	2	100	c.15C>T	c.(13-15)CGC>CGT	p.R5R	SNHG3-RCC1_uc001bqa.1_Silent_p.R5R|SNHG3-RCC1_uc001bqb.1_Silent_p.R5R|SNHG3-RCC1_uc001bqc.1_Silent_p.R5R|RCC1_uc001bqe.1_Silent_p.R5R|RCC1_uc001bqf.1_Silent_p.R5R	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	5					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			ovary(1)	1		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)		CACCCAAGCGCATAGCTAAAA	0.408													T	28856393	C	T	28856393	2	4	272	1	0	0	0	0	0	0	0	1	13173	697	25	2		2	RCC1	1	28856393	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	56120	28856393	220394228	40	135151											
HCRTR1	3061	broad.mit.edu	37	chr1	32084721	32084721	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaagggagtgggctgaGggctggcccaagctccctcc	15	14	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:32084721G>T	uc009vtx.2	+	3	313	c.-72G>T	c.(-74--70)GAGGG>GATGG		HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Translation_Start_Site|HCRTR1_uc001btd.2_Translation_Start_Site|HCRTR1_uc010ogl.1_Translation_Start_Site	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1						feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AGTGGGCTGAGGGCTGGCCCA	0.557													T	32084721	G	T	32084721	1	4	272	1	0	0	0	0	0	0	0	0	7001	1015	35	5		5	HCRTR1	1	32084721	Translation_Start_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3228328	32084721	217165900	41	135152											
BAI2	576	broad.mit.edu	37	chr1	32222255	32222255	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccaggagcagcccgaggcGatggtaggaaagaggtcctg	17	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:32222255G>A	uc001btn.2	-	4	537	c.183C>T	c.(181-183)ATC>ATT	p.I61I	BAI2_uc010ogp.1_Silent_p.I49I|BAI2_uc010ogq.1_Silent_p.I61I|BAI2_uc001bto.2_Silent_p.I61I|BAI2_uc001btq.1_Silent_p.I49I|BAI2_uc010ogr.1_Silent_p.I49I	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	61	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCCCGAGGCGATGGTAGGAA	0.672													A	32222255	G	A	32222255	2	1	272	1	0	0	0	0	0	0	0	1	1299	1048	37	1		1	BAI2	1	32222255	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	137534	32222255	217028366	42	135153											
ZNF362	149076	broad.mit.edu	37	chr1	33747277	33747277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagccccacaagtgccCgcactgctccaagtcctttg	9	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:33747277C>A	uc001bxc.1	+	6	943	c.773C>A	c.(772-774)CCG>CAG	p.P258Q		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	258	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACAAGTGCCCGCACTGCTCC	0.582													A	33747277	C	A	33747277	3	1	272	1	0	0	0	0	1	0	0	0	17865	652	23	5	791	5	ZNF362	1	33747277	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1525022	33747277	215503344	43	135154											
ZMYM4	9202	broad.mit.edu	37	chr1	35855667	35855667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgttctgtaatcagcaaaGtgtatgtgacccgccttcac	9	10	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:35855667G>T	uc001byt.2	+	15	2635	c.2555G>T	c.(2554-2556)AGT>ATT	p.S852I	ZMYM4_uc009vuu.2_Missense_Mutation_p.S820I|ZMYM4_uc001byu.2_Missense_Mutation_p.S528I|ZMYM4_uc009vuv.2_Missense_Mutation_p.S591I	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	852					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATCAGCAAAGTGTATGTGAC	0.393													T	35855667	G	T	35855667	3	4	272	1	0	0	0	0	1	0	0	0	17699	1029	36	5	2613	5	ZMYM4	1	35855667	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2108390	35855667	213394954	44	135155											
NCDN	23154	broad.mit.edu	37	chr1	36026083	36026083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctttgggtgtggccctgCtggcctgcttctgcagtgac	16	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36026083C>T	uc001bza.2	+	4	458	c.331C>T	c.(331-333)CTG>TTG	p.L111L	KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Silent_p.L111L|NCDN_uc001bzc.2_Silent_p.L94L	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	111					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTGGCCCTGCTGGCCTGCTT	0.627													T	36026083	C	T	36026083	2	4	272	1	0	0	0	0	0	0	0	1	10214	796	28	2		2	NCDN	1	36026083	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	170416	36026083	213224538	45	135156											
PSMB2	5690	broad.mit.edu	37	chr1	36107026	36107026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggataccgatgaggTactccatggtggcggaaggc	16	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36107026T>C	uc001bzf.1	-	1	118	c.8A>G	c.(7-9)TAC>TGC	p.Y3C	PSMB2_uc001bzd.1_Missense_Mutation_p.Y3C|PSMB2_uc010ohz.1_Missense_Mutation_p.Y3C|PSMB2_uc001bzg.1_Missense_Mutation_p.Y3C	NM_002794	NP_002785	P49721	PSB2_HUMAN	proteasome beta 2 subunit	3					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				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	ACCGATGAGGTACTCCATGGT	0.617													C	36107026	T	C	36107026	3	2	272	1	0	0	0	0	1	0	0	0	12677	1638	57	3	621	3	PSMB2	1	36107026	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	80943	36107026	213143595	46	135157											
EIF2C3	192669	broad.mit.edu	37	chr1	36520649	36520649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctgccacacttacgtaCgctgtacacgatctgtttct	7	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36520649C>T	uc001bzp.2	+	18	2633	c.2377C>T	c.(2377-2379)CGC>TGC	p.R793C	EIF2C3_uc001bzq.2_Missense_Mutation_p.R559C	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	793	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACTTACGTACGCTGTACACG	0.438													T	36520649	C	T	36520649	3	4	272	1	0	0	0	0	1	0	0	0	5007	536	19	1	2447	1	EIF2C3	1	36520649	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	413623	36520649	212729972	47	135158											
MAP7D1	55700	broad.mit.edu	37	chr1	36636764	36636765	+	Frame_Shift_Ins	INS	-	-	C													caggtcgggcctaggccagcINSccccccgcaggaagagtccc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36636763_36636764G>GC	uc001bzz.3	+	1	454_455	c.238_239G>GC	c.(238-240)gccfs	p.A80fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	80	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)				GCCTAGGCCAGCCCCCCCGCAG	0.653													C	36636765	-	C	36636764	7	5	272	1	0	1	1	0	0	0	0	0	9267	739	26	0	245	0	MAP7D1	1	36636764	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	116115	36636764	212613857	48	135159											
ZC3H12A	80149	broad.mit.edu	37	chr1	37945912	37945914	+	In_Frame_Del	DEL	CTC	CTC	-													catgggaacaaggaggtcttCtcctgccggggcatcctgct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:37945911_37945913TCTC>T	uc001cbb.4	+	2	614_616	c.464_466TCTC>T	c.(463-468)ttctcc>tTcc	p.S156del	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	156					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)				AAGGAGGTCTTCTCCTGCCGGGG	0.635													-	37945914	CTC	-	37945912	7	5	272	1	0	1	0	1	0	0	0	0	17558	912	32	0	471	0	ZC3H12A	1	37945912	In_Frame_Del	DEL	CTC	TCGA-HU-A4GQ-01A-11D-A25D-08	1309148	37945912	211304709	49	135160											
MACF1	23499	broad.mit.edu	37	chr1	39929341	39929341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcaggtggagcagatcGgagagaataaataccgggta	15	5	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:39929341G>A	uc010oiu.1	+	59	17196	c.17065G>A	c.(17065-17067)GGA>AGA	p.G5689R	MACF1_uc010ois.1_Missense_Mutation_p.G5187R|MACF1_uc001cde.1_Missense_Mutation_p.G64R|MACF1_uc001cdf.1_Missense_Mutation_p.G64R	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7145	C-terminal tail (By similarity).|GAR.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GGAGCAGATCGGAGAGAATAA	0.443													A	39929341	G	A	39929341	3	1	272	1	0	0	0	0	1	0	0	0	9144	1117	39	1	22068	1	MACF1	1	39929341	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1983429	39929341	209321280	50	135161											
PPT1	5538	broad.mit.edu	37	chr1	40557001	40557001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaagaggcaaagttacCttgatgttgtcccccaaccg	9	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:40557001C>T	uc001cfb.2	-	4	665	c.433G>A	c.(433-435)GGT>AGT	p.G145S	PPT1_uc010ojf.1_Missense_Mutation_p.G95S|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	145					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAAAGTTACCTTGATGTTGT	0.433													T	40557001	C	T	40557001	3	4	272	1	0	0	0	0	1	0	0	0	12411	695	24	4	511	4	PPT1	1	40557001	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	627660	40557001	208693620	51	135162											
HIVEP3	59269	broad.mit.edu	37	chr1	42041238	42041238	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttcgaagattttgatcctCgccggctcccctctctggga	9	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:42041238C>T	uc001cgz.3	-	5	6397	c.5184G>A	c.(5182-5184)GCG>GCA	p.A1728A	HIVEP3_uc001cha.3_Silent_p.A1728A|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1728					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTTGATCCTCGCCGGCTCCC	0.567													T	42041238	C	T	42041238	2	4	272	1	0	0	0	0	0	0	0	1	7188	871	31	1		1	HIVEP3	1	42041238	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1484237	42041238	207209383	52	135163											
HIVEP3	59269	broad.mit.edu	37	chr1	42048809	42048809	+	Frame_Shift_Del	DEL	G	G	-													gctacctcggaaggggtggtGgggggtgctgatagtgcagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:42048808_42048808TG>T	uc001cgz.4	-	3	2874	c.1661_1661CA>A	c.(1660-1662)cacfs	p.H554fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.H554fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	554	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				GAAGGGGTGGTGGGGGGTGCT	0.627													-	42048809	G	-	42048809	7	5	272	1	0	1	0	1	0	0	0	0	7188	1348	47	0	5584	0	HIVEP3	1	42048809	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7571	42048809	207201812	53	135164											
TMEM125	128218	broad.mit.edu	37	chr1	43738510	43738510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctcggcgctctgcttcgtCgtggccgtgggcctcgtggc	16	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:43738510C>T	uc001cir.2	+	4	687	c.117C>T	c.(115-117)GTC>GTT	p.V39V	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.V39V	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	39	Helical; (Potential).					integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGCTTCGTCGTGGCCGTGG	0.726													T	43738510	C	T	43738510	2	4	272	1	0	0	0	0	0	0	0	1	16034	871	31	1		1	TMEM125	1	43738510	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1689701	43738510	205512111	54	135165											
CDC20	991	broad.mit.edu	37	chr1	43824946	43824946	+	Frame_Shift_Del	DEL	C	C	-													cttcagctggatgcacccatCcccaatgcaccccctgcgcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:43824946delC	uc001cix.2	+	2	161	c.60delC	c.(58-60)ATCfs	p.I20fs	CDC20_uc001ciy.2_Frame_Shift_Del_p.I20fs	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	20					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				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGCACCCATCCCCAATGCAC	0.692													-	43824946	C	-	43824946	7	5	272	1	0	1	0	1	0	0	0	0	3059	845	30	0	62	0	CDC20	1	43824946	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	86436	43824946	205425675	55	135166											
KIAA0467	23334	broad.mit.edu	37	chr1	43913908	43913908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcagggcttattctagCgcctggaccggctcctctgt	12	14	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:43913908C>T	uc001cjk.1	+	54	7487	c.7025C>T	c.(7024-7026)GCG>GTG	p.A2342V	KIAA0467_uc001cjl.1_Missense_Mutation_p.A330V	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3241						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTATTCTAGCGCCTGGACCG	0.682													T	43913908	C	T	43913908	3	4	272	1	0	0	0	0	1	0	0	0	8178	768	27	1	7231	1	KIAA0467	1	43913908	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	88962	43913908	205336713	56	135167											
PTPRF	5792	broad.mit.edu	37	chr1	44063426	44063426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcttccccagccccctcCgcccctccccagaaggtgat	7	20	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44063426C>T	uc001cjr.2	+	12	2161	c.1821C>T	c.(1819-1821)TCC>TCT	p.S607S	PTPRF_uc001cjs.2_Silent_p.S607S|PTPRF_uc001cju.2_Silent_p.S178S|PTPRF_uc009vwt.2_Silent_p.S178S|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	607	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCCCCCTCCGCCCCTCCCC	0.642													T	44063426	C	T	44063426	2	4	272	1	0	0	0	0	0	0	0	1	12801	639	23	1		1	PTPRF	1	44063426	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	149518	44063426	205187195	57	135168											
KDM4A	9682	broad.mit.edu	37	chr1	44157236	44157236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgttcagccaatgcccTagaggaggtgagtgatccca	13	10	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44157236T>C	uc001cjx.2	+	15	2478	c.2312T>C	c.(2311-2313)CTA>CCA	p.L771P	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	771					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			skin(1)	1						GCCAATGCCCTAGAGGAGGTG	0.498													C	44157236	T	C	44157236	3	2	272	1	0	0	0	0	1	0	0	0	8128	1522	53	3	2366	3	KDM4A	1	44157236	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	93810	44157236	205093385	58	135169											
IPO13	9670	broad.mit.edu	37	chr1	44424484	44424484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaacctcttcaccacaCtggacatcagtcatcatgag	5	15	6	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44424484C>T	uc001ckx.2	+	11	2746	c.1951C>T	c.(1951-1953)CTG>TTG	p.L651L		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	651	HEAT 11.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTTCACCACACTGGACATCAG	0.562													T	44424484	C	T	44424484	2	4	272	1	0	0	0	0	0	0	0	1	7794	564	20	4		4	IPO13	1	44424484	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	267248	44424484	204826137	59	135170											
CCDC24	149473	broad.mit.edu	37	chr1	44457978	44457978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctcttctggcaccacCgcctctcctaaaggacctct	5	18	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44457978C>T	uc001clj.2	+	3	392	c.221C>T	c.(220-222)CCG>CTG	p.P74L	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.P30L|CCDC24_uc009vxc.2_Intron	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	74											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGGCACCACCGCCTCTCCTA	0.637													T	44457978	C	T	44457978	3	4	272	1	0	0	0	0	1	0	0	0	2799	652	23	1	227	1	CCDC24	1	44457978	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	33494	44457978	204792643	60	135171											
RPS8	6202	broad.mit.edu	37	chr1	45243749	45243749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgaaaggaaaaagaaTgccaaaatcagcagtctcct	8	7	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:45243749T>C	uc001cmi.2	+	5	488	c.465T>C	c.(463-465)AAT>AAC	p.N155N	SNORD38B_uc001cml.2_5'Flank	NM_001012	NP_001003	P62241	RS8_HUMAN	ribosomal protein S8	155					endocrine pancreas development|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	protein binding|structural constituent of ribosome			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGAAAAAGAATGCCAAAATCA	0.413													C	45243749	T	C	45243749	2	2	272	1	0	0	0	0	0	0	0	1	13661	1461	51	3		3	RPS8	1	45243749	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	785771	45243749	204006872	61	135172											
RAD54L	8438	broad.mit.edu	37	chr1	46743801	46743801	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccaccccctgatggttcTgactgcacttcagacctggc	10	16	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:46743801T>C	uc009vye.2	+	19	2205	c.2091T>C	c.(2089-2091)TCT>TCC	p.S697S	RAD54L_uc001cpl.2_Silent_p.S697S|RAD54L_uc001cpm.1_Silent_p.S480S	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	697					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTGATGGTTCTGACTGCACTT	0.592								Direct_reversal_of_damage|Homologous_recombination					C	46743801	T	C	46743801	2	2	272	1	0	0	0	0	0	0	0	1	12993	1567	55	3		3	RAD54L	1	46743801	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1500052	46743801	202506820	62	135173											
LRRC41	10489	broad.mit.edu	37	chr1	46751402	46751402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgagctagctggtgccCgtttgtatgaggatgtagaa	16	6	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:46751402C>T	uc001cpn.2	-	4	1171	c.1127G>A	c.(1126-1128)CGG>CAG	p.R376Q	LRRC41_uc010omb.1_Missense_Mutation_p.R376Q|LRRC41_uc001cpo.1_Missense_Mutation_p.R376Q	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	376										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGCTGGTGCCCGTTTGTATGA	0.622													T	46751402	C	T	46751402	3	4	272	1	0	0	0	0	1	0	0	0	8999	652	23	1	1339	1	LRRC41	1	46751402	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7601	46751402	202499219	63	135174											
DMRTA2	63950	broad.mit.edu	37	chr1	50884409	50884409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtcggctccttgtgcacCgccgcagcagcggcggccga	15	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:50884409C>T	uc010ona.1	-	2	1653	c.1557G>A	c.(1555-1557)GCG>GCA	p.A519A	DMRTA2_uc010onb.1_Silent_p.A519A	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	519	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CCTTGTGCACCGCCGCAGCAG	0.706													T	50884409	C	T	50884409	2	4	272	1	0	0	0	0	0	0	0	1	4589	639	23	1		1	DMRTA2	1	50884409	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4133007	50884409	198366212	64	135175											
ZCCHC11	23318	broad.mit.edu	37	chr1	52891130	52891130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggggaaatggggacgCggtgcatgttcccaaggaat	16	7	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:52891130C>T	uc001ctx.2	-	29	4992	c.4758G>A	c.(4756-4758)CCG>CCA	p.P1586P	ZCCHC11_uc001cty.2_Silent_p.P1587P|ZCCHC11_uc001ctz.2_Silent_p.P1582P	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1586	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AATGGGGACGCGGTGCATGTT	0.468													T	52891130	C	T	52891130	2	4	272	1	0	0	0	0	0	0	0	1	17577	755	27	1		1	ZCCHC11	1	52891130	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2006721	52891130	196359491	65	135176											
GLIS1	148979	broad.mit.edu	37	chr1	53990523	53990523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagctggggtctgtgtagCgcttggagcagccagggatc	19	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:53990523C>T	uc001cvr.1	-	5	1562	c.995G>A	c.(994-996)CGC>CAC	p.R332H		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	332	C2H2-type 5.				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			skin(1)	1						GTCTGTGTAGCGCTTGGAGCA	0.637													T	53990523	C	T	53990523	3	4	272	1	0	0	0	0	1	0	0	0	6445	768	27	1	891	1	GLIS1	1	53990523	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1099393	53990523	195260098	66	135177											
DHCR24	1718	broad.mit.edu	37	chr1	55319710	55319710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccctgccccactcacGtggatgtcgttttggaaggt	11	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55319710G>A	uc001cyc.1	-	7	1347	c.1218C>T	c.(1216-1218)CAC>CAT	p.H406H	DHCR24_uc010ooi.1_Silent_p.H49H|DHCR24_uc010ooj.1_Silent_p.H220H|DHCR24_uc010ook.1_Silent_p.H365H	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	406					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			pancreas(1)	1						CCCCACTCACGTGGATGTCGT	0.562													A	55319710	G	A	55319710	2	1	272	1	0	0	0	0	0	0	0	1	4476	1159	40	1		1	DHCR24	1	55319710	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1329187	55319710	193930911	67	135178											
PCSK9	255738	broad.mit.edu	37	chr1	55512313	55512313	+	Frame_Shift_Del	DEL	C	C	-													accgggcggatgaataccagCcccccggtaagacccccatc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55512312_55512312GC>G	uc001cyf.2	+	2	878	c.516_516GC>G	c.(514-516)cagfs	p.Q172fs	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	172	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						ATGAATACCAGCCCCCCGGTA	0.612													-	55512313	C	-	55512313	7	5	272	1	0	1	0	1	0	0	0	0	11606	739	26	0	527	0	PCSK9	1	55512313	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	192603	55512313	193738308	68	135179											
USP24	23358	broad.mit.edu	37	chr1	55562769	55562769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccacacttcgcccatttTccccaacttcagaagaagaa	5	14	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55562769T>C	uc001cyg.3	-	46	5312	c.5312A>G	c.(5311-5313)GAA>GGA	p.E1771G		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1931					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TCGCCCATTTTCCCCAACTTC	0.478													C	55562769	T	C	55562769	3	2	272	1	0	0	0	0	1	0	0	0	17052	1783	62	3	2150	3	USP24	1	55562769	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	50456	55562769	193687852	69	135180											
USP24	23358	broad.mit.edu	37	chr1	55613380	55613380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttaagcctccaggcccgGccacagcagctgcaagccga	10	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55613380G>A	uc001cyg.3	-	15	1580	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	687					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TCCAGGCCCGGCCACAGCAGC	0.463													A	55613380	G	A	55613380	3	1	272	1	0	0	0	0	1	0	0	0	17052	1203	42	2	6006	2	USP24	1	55613380	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	50611	55613380	193637241	70	135181											
C1orf168	199920	broad.mit.edu	37	chr1	57202768	57202768	+	Frame_Shift_Del	DEL	T	T	-													taaattacttactttgactcTttttcactcaggtctacatc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:57202767_57202767CT>C	uc001cym.4	-	14	2192	c.1786_1786AG>G	c.(1786-1788)gagfs	p.E596fs	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	596										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						TACTTTGACTCTTTTTCACTC	0.338													-	57202768	T	-	57202768	7	5	272	1	0	1	0	1	0	0	0	0	2012	1606	56	0	425	0	C1orf168	1	57202768	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1589388	57202768	192047853	71	135182											
PDE4B	5142	broad.mit.edu	37	chr1	66829177	66829177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccattaccattctgacGtggcatatcacaacagcctg	7	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:66829177G>A	uc001dcn.2	+	12	1398	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M	PDE4B_uc009war.2_Missense_Mutation_p.V311M|PDE4B_uc001dco.2_Missense_Mutation_p.V403M|PDE4B_uc001dcp.2_Missense_Mutation_p.V388M|PDE4B_uc001dcq.2_Missense_Mutation_p.V231M|PDE4B_uc009was.2_Missense_Mutation_p.V170M	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	403					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCATTCTGACGTGGCATATCA	0.423													A	66829177	G	A	66829177	3	1	272	1	0	0	0	0	1	0	0	0	11640	1145	40	1	1607	1	PDE4B	1	66829177	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9626409	66829177	182421444	72	135183											
IL23R	149233	broad.mit.edu	37	chr1	67724741	67724741	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtgaatgaggagttgccatCtattaatacttattttccac	7	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:67724741C>A	uc001ddo.2	+	11	1905	c.1820C>A	c.(1819-1821)TCT>TAT	p.S607Y	IL23R_uc009waz.2_Missense_Mutation_p.S404Y|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.S205Y|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.S189Y|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.S353Y|IL23R_uc010opn.1_Missense_Mutation_p.S452Y|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Missense_Mutation_p.S404Y|IL23R_uc010opt.1_Missense_Mutation_p.S248Y|IL23R_uc010opu.1_Missense_Mutation_p.S303Y|IL23R_uc010opv.1_Missense_Mutation_p.S365Y|IL23R_uc010opw.1_Missense_Mutation_p.S242Y|IL23R_uc010opx.1_Missense_Mutation_p.S248Y|IL23R_uc010opy.1_Missense_Mutation_p.S374Y|IL23R_uc010opz.1_Missense_Mutation_p.S248Y|IL23R_uc010oqa.1_Missense_Mutation_p.S248Y|IL23R_uc010oqb.1_Missense_Mutation_p.S436Y|IL23R_uc010oqc.1_Missense_Mutation_p.S323Y|IL23R_uc010oqd.1_Missense_Mutation_p.S242Y|IL23R_uc010oqe.1_Missense_Mutation_p.S205Y|IL23R_uc010oqf.1_Missense_Mutation_p.S205Y|IL23R_uc010oqg.1_Missense_Mutation_p.S205Y|IL23R_uc010oqh.1_Missense_Mutation_p.S248Y|IL23R_uc001dds.2_Missense_Mutation_p.S352Y|IL23R_uc001ddt.2_Missense_Mutation_p.S205Y	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	607	Cytoplasmic (Potential).				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				0						GAGTTGCCATCTATTAATACT	0.378													A	67724741	C	A	67724741	3	1	272	1	0	0	0	0	1	0	0	0	7676	913	32	5	1858	5	IL23R	1	67724741	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	895564	67724741	181525880	73	135184											
LRRC7	57554	broad.mit.edu	37	chr1	70501850	70501850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggattggggaacttcAcccttcattagctgagaccc	10	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:70501850A>G	uc001dep.2	+	17	1958	c.1928A>G	c.(1927-1929)CAC>CGC	p.H643R	LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'Flank	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	643						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GGGGAACTTCACCCTTCATTA	0.393													G	70501850	A	G	70501850	3	3	272	1	0	0	0	0	1	0	0	0	9020	159	6	3	1994	3	LRRC7	1	70501850	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2777109	70501850	178748771	74	135185											
LRRC7	57554	broad.mit.edu	37	chr1	70505412	70505412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagggagaggagagctgtgGtaaaatgcctgcagactgga	17	5	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:70505412G>T	uc001dep.2	+	19	3821	c.3791G>T	c.(3790-3792)GGT>GTT	p.G1264V	LRRC7_uc009wbg.2_Missense_Mutation_p.G548V|LRRC7_uc001deq.2_Missense_Mutation_p.G505V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1264						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GAGAGCTGTGGTAAAATGCCT	0.448													T	70505412	G	T	70505412	3	4	272	1	0	0	0	0	1	0	0	0	9020	1261	44	5	3865	5	LRRC7	1	70505412	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3562	70505412	178745209	75	135186											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507481	74507481	+	Frame_Shift_Del	DEL	A	A	-													attggctgaggatatgcaggAaaaaaatgttgttttttctc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:74507480_74507480GA>G	uc001dfy.4	-	6	1327	c.1135_1135TC>C	c.(1135-1137)cctfs	p.P379fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	379								p.P379fs*26(1)		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						GGATATGCAGGAAAAAAATGT	0.353													-	74507481	A	-	74507481	7	5	272	1	0	1	0	1	0	0	0	0	9030	243	9	0	748	0	LRRIQ3	1	74507481	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4002069	74507481	174743140	76	135187											
AK5	26289	broad.mit.edu	37	chr1	77759520	77759520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatatcggcggtatgaccGgctccctccaatccatcaat	7	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:77759520G>A	uc001dhn.2	+	3	547	c.290G>A	c.(289-291)CGG>CAG	p.R97Q	AK5_uc001dho.2_Missense_Mutation_p.R71Q|AK5_uc001dhm.1_Intron	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	97					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			skin(1)	1						CGGTATGACCGGCTCCCTCCA	0.408													A	77759520	G	A	77759520	3	1	272	1	0	0	0	0	1	0	0	0	443	1116	39	1	300	1	AK5	1	77759520	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3252039	77759520	171491101	77	135188											
USP33	23032	broad.mit.edu	37	chr1	78163101	78163101	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggataacttcaggccctccAccataaatagactgcagaaa	7	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:78163101A>G	uc001dht.2	-	25	3077	c.2730T>C	c.(2728-2730)GGT>GGC	p.G910G	USP33_uc009wca.1_RNA|USP33_uc001dhs.2_3'UTR|USP33_uc001dhu.2_Silent_p.G879G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	910	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			lung(2)|ovary(1)	3						CAGGCCCTCCACCATAAATAG	0.368													G	78163101	A	G	78163101	2	3	272	1	0	0	0	0	0	0	0	1	17061	146	6	3		3	USP33	1	78163101	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	403581	78163101	171087520	78	135189											
FUBP1	8880	broad.mit.edu	37	chr1	78430612	78430612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagcaccagtgttctgCggcccgtcttgaatcataac	9	12	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:78430612C>T	uc001dii.2	-	9	767	c.678G>A	c.(676-678)CCG>CCA	p.P226P	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.P247P	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	226	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						CAGTGTTCTGCGGCCCGTCTT	0.358													T	78430612	C	T	78430612	2	4	272	1	0	0	0	0	0	0	0	1	6092	755	27	1		1	FUBP1	1	78430612	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	267511	78430612	170820009	79	135190											
DNAJB4	11080	broad.mit.edu	37	chr1	78479136	78479136	+	Frame_Shift_Del	DEL	A	A	-													aaattcttaccattgagattAaaaaagggtggaaagaaggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:78479135_78479135TA>T	uc001dij.3	+	1	771	c.612_612TA>T	c.(610-612)attfs	p.I204fs	DNAJB4_uc010orn.2_Frame_Shift_Del_p.I89fs	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	204					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						CCATTGAGATTAAAAAAGGGT	0.358													-	78479136	A	-	78479136	7	5	272	1	0	1	0	1	0	0	0	0	4622	363	13	0	619	0	DNAJB4	1	78479136	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	48524	78479136	170771485	80	135191											
WDR63	126820	broad.mit.edu	37	chr1	85550270	85550270	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaatataaagaacaTattcctgaagatgtgtatat	7	4	0	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:85550270T>C	uc001dkt.2	+	6	623	c.432T>C	c.(430-432)CAT>CAC	p.H144H	WDR63_uc009wcl.2_Silent_p.H144H	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	144										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATAAAGAACATATTCCTGAAG	0.338													C	85550270	T	C	85550270	2	2	272	1	0	0	0	0	0	0	0	1	17311	1403	49	3		3	WDR63	1	85550270	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	7071134	85550270	163700351	81	135192											
CYR61	3491	broad.mit.edu	37	chr1	86048117	86048117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttttggaatggagcctcGcatcctatacaaccctttac	7	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:86048117G>A	uc001dle.2	+	4	877	c.653G>A	c.(652-654)CGC>CAC	p.R218H	CYR61_uc001dlg.2_Missense_Mutation_p.R47H|CYR61_uc009wcp.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61 precursor	218					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)	1				all cancers(265;0.0216)|Epithelial(280;0.0441)		ATGGAGCCTCGCATCCTATAC	0.433											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	86048117	G	A	86048117	3	1	272	1	0	0	0	0	1	0	0	0	4199	1087	38	1	667	1	CYR61	1	86048117	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	497847	86048117	163202504	82	135193											
GBP7	388646	broad.mit.edu	37	chr1	89613322	89613322	+	Frame_Shift_Del	DEL	C	C	-													gcttctaagtagatattgtgCccccccggaacaaagaaagt					rs138127555		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:89613321_89613321GC>G	uc001dna.2	-	7	1433	c.1294_1294GC>C	c.(1294-1296)cacfs	p.H432fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	432						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)		TAGATATTGTGCCCCCCCGGA	0.438													-	89613322	C	-	89613322	7	5	272	1	0	1	0	1	0	0	0	0	6279	726	26	0	639	0	GBP7	1	89613322	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3565205	89613322	159637299	83	135194											
F3	2152	broad.mit.edu	37	chr1	94998030	94998030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattagtgtttgttttggCtgttttctgtaaaaagatag	9	4	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:94998030C>T	uc001dqr.2	-	5	777	c.598G>A	c.(598-600)GCC>ACC	p.A200T	F3_uc001dqp.2_RNA|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	NM_001993	NP_001984	P13726	TF_HUMAN	coagulation factor III precursor	200	Extracellular (Potential).				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			central_nervous_system(1)	1		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	TTTGTTTTGGCTGTTTTCTGT	0.373													T	94998030	C	T	94998030	3	4	272	1	0	0	0	0	1	0	0	0	5347	797	28	2	297	2	F3	1	94998030	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5384708	94998030	154252591	84	135195											
LPPR5	163404	broad.mit.edu	37	chr1	99418625	99418625	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttataatccttacttaCggtcagatacatagctgcat	5	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:99418625C>T	uc001dsb.2	-	3	843	c.621_splice	c.e3+1	p.T207_splice	LPPR5_uc001dsc.2_Splice_Site_p.T207_splice	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1							integral to membrane	hydrolase activity				0						TCCTTACTTACGGTCAGATAC	0.378													T	99418625	C	T	99418625	5	4	272	1	0	0	0	0	0	0	1	0	8928	550	19	1	359	1	LPPR5	1	99418625	Splice_Site	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4420595	99418625	149831996	85	135196											
CCDC76	54482	broad.mit.edu	37	chr1	100606543	100606543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaaaaagttcacttcAtcctagtggaaaaggtgacc	9	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:100606543A>G	uc001dsv.2	+	7	656	c.637A>G	c.(637-639)ATC>GTC	p.I213V	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.I213V	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	213					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		AGTTCACTTCATCCTAGTGGA	0.368													G	100606543	A	G	100606543	3	3	272	1	0	0	0	0	1	0	0	0	2850	217	8	3	663	3	CCDC76	1	100606543	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1187918	100606543	148644078	86	135197											
COL11A1	1301	broad.mit.edu	37	chr1	103444434	103444434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctttggcccaggtttcccAgtgggacctcttgcacctct	9	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:103444434A>G	uc001dul.2	-	34	3009	c.2691T>C	c.(2689-2691)ACT>ACC	p.T897T	COL11A1_uc001duk.2_Silent_p.T93T|COL11A1_uc001dum.2_Silent_p.T909T|COL11A1_uc001dun.2_Silent_p.T858T|COL11A1_uc009weh.2_Silent_p.T781T	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	897	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CAGGTTTCCCAGTGGGACCTC	0.418													G	103444434	A	G	103444434	2	3	272	1	0	0	0	0	0	0	0	1	3667	175	7	3		3	COL11A1	1	103444434	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2837891	103444434	145806187	87	135198											
COL11A1	1301	broad.mit.edu	37	chr1	103471836	103471836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctttttccaggttttccCgttggaccagggggaccctg	11	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:103471836C>T	uc001dul.2	-	16	2037	c.1719G>A	c.(1717-1719)ACG>ACA	p.T573T	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.T585T|COL11A1_uc001dun.2_Silent_p.T534T|COL11A1_uc009weh.2_Silent_p.T457T	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CAGGTTTTCCCGTTGGACCAG	0.348													T	103471836	C	T	103471836	2	4	272	1	0	0	0	0	0	0	0	1	3667	639	23	1		1	COL11A1	1	103471836	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	27402	103471836	145778785	88	135199											
NTNG1	22854	broad.mit.edu	37	chr1	107691418	107691418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtgaaactcgatcctcCggatattacctgtggagacc	10	10	0	2	rs142686945		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:107691418C>T	uc001dvh.3	+	2	921	c.203C>T	c.(202-204)CCG>CTG	p.P68L	NTNG1_uc001dvf.3_Missense_Mutation_p.P68L|NTNG1_uc010out.1_Missense_Mutation_p.P68L|NTNG1_uc001dvc.3_Missense_Mutation_p.P68L|NTNG1_uc001dvd.1_Missense_Mutation_p.P68L	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	68	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CTCGATCCTCCGGATATTACC	0.438													T	107691418	C	T	107691418	3	4	272	1	0	0	0	0	1	0	0	0	10704	652	23	1	205	1	NTNG1	1	107691418	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4219582	107691418	141559203	89	135200											
SLC25A24	29957	broad.mit.edu	37	chr1	108690905	108690905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatggtactcacctccAttggatatataaaagtctgt	7	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:108690905A>G	uc001dvn.3	-	7	1140	c.926T>C	c.(925-927)ATG>ACG	p.M309T	SLC25A24_uc001dvm.2_Missense_Mutation_p.M290T	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	309	Solcar 2.|Helical; Name=3; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ACTCACCTCCATTGGATATAT	0.279													G	108690905	A	G	108690905	3	3	272	1	0	0	0	0	1	0	0	0	14487	217	8	3	523	3	SLC25A24	1	108690905	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	999487	108690905	140559716	90	135201											
C1orf59	113802	broad.mit.edu	37	chr1	109191326	109191326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcggttcaacttgggataCgcaaggagtctctgcagagg	14	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:109191326C>T	uc001dvt.3	-	8	1282	c.1044G>A	c.(1042-1044)GCG>GCA	p.A348A	C1orf59_uc001dvu.3_Silent_p.A348A|C1orf59_uc009wer.2_3'UTR	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	348					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		ACTTGGGATACGCAAGGAGTC	0.473													T	109191326	C	T	109191326	2	4	272	1	0	0	0	0	0	0	0	1	2051	523	19	1		1	C1orf59	1	109191326	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	500421	109191326	140059295	91	135202											
WDR47	22911	broad.mit.edu	37	chr1	109560159	109560159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttttttgtcaaatttttCcatacattctagaggctgaa	5	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:109560159C>T	uc001dwj.2	-	3	599	c.223G>A	c.(223-225)GAA>AAA	p.E75K	WDR47_uc001dwl.2_Missense_Mutation_p.E75K|WDR47_uc001dwi.2_Missense_Mutation_p.E75K|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.1_Missense_Mutation_p.E2K	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	75	CTLH.									ovary(1)	1		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)		TCAAATTTTTCCATACATTCT	0.299													T	109560159	C	T	109560159	3	4	272	1	0	0	0	0	1	0	0	0	17297	864	30	4	2612	4	WDR47	1	109560159	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	368833	109560159	139690462	92	135203											
SLC6A17	388662	broad.mit.edu	37	chr1	110719306	110719306	+	Frame_Shift_Del	DEL	G	G	-													gctggcctgcttcctggtccGggggctgttgctgcgagggg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:110719305_110719305CG>C	uc009wfq.3	+	5	1269	c.808_808CG>C	c.(808-810)cggfs	p.R270fs		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	270					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)		CTTCCTGGTCCGGGGGCTGTT	0.597													-	110719306	G	-	110719306	7	5	272	1	0	1	0	1	0	0	0	0	14680	1116	39	0	827	0	SLC6A17	1	110719306	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1159147	110719306	138531315	93	135204											
KCND3	3752	broad.mit.edu	37	chr1	112524251	112524251	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgacttaccccagtgtGgtcatggtgacaatggtgta	13	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:112524251G>T	uc001ebu.1	-	2	1578	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	KCND3_uc001ebv.1_Silent_p.T366T	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	366						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		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)		ACCCCAGTGTGGTCATGGTGA	0.542													T	112524251	G	T	112524251	2	4	272	1	0	0	0	0	0	0	0	1	8020	1335	47	5		5	KCND3	1	112524251	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1804945	112524251	136726370	94	135205											
MOV10	4343	broad.mit.edu	37	chr1	113238801	113238801	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacgcaaagaagggggAgtatgtatttcccgccaaga	14	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:113238801A>G	uc001eck.2	+	12	2081	c.1811A>G	c.(1810-1812)GAG>GGG	p.E604G	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.E604G|MOV10_uc001ecm.2_Missense_Mutation_p.E544G|MOV10_uc009wgj.1_Missense_Mutation_p.E544G	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	604					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			ovary(4)|skin(1)	5	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)		AAGAAGGGGGAGTATGTATTT	0.557													G	113238801	A	G	113238801	3	3	272	1	0	0	0	0	1	0	0	0	9718	304	11	3	1853	3	MOV10	1	113238801	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	714550	113238801	136011820	95	135206											
CASQ2	845	broad.mit.edu	37	chr1	116243928	116243928	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaattatcatcatcatcatcAtcttcatcatcatcttcagt	2	11	11	0	rs77062555		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:116243928A>T	uc001efx.3	-	11	1398	c.1134T>A	c.(1132-1134)GAT>GAA	p.D378E	CASQ2_uc010owu.1_Missense_Mutation_p.D307E	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	378	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		catcatcatcatcttcatcat	0.254													T	116243928	A	T	116243928	3	4	272	1	0	0	0	0	1	0	0	0	2681	214	8	5	69	5	CASQ2	1	116243928	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3005127	116243928	133006693	96	135207											
TTF2	8458	broad.mit.edu	37	chr1	117635478	117635480	+	In_Frame_Del	DEL	CTT	CTT	-													actgtttcccttaacggcacCttcttcaagatggagctttt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:117635477_117635479CCTT>C	uc001egy.3	+	17	2950_2952	c.2930_2932CCTT>C	c.(2929-2934)accttc>aCtc	p.F979del	MIR942_uc021osm.1_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	979					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|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)		CTTAACGGCACCTTCTTCAAGAT	0.483													-	117635480	CTT	-	117635478	7	5	272	1	0	1	0	1	0	0	0	0	16716	668	24	0	3001	0	TTF2	1	117635478	In_Frame_Del	DEL	CTT	TCGA-HU-A4GQ-01A-11D-A25D-08	1391550	117635478	131615143	97	135208											
PDE4DIP	9659	broad.mit.edu	37	chr1	145075752	145075752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggggactgaggggttcgCgtcgcgtccccggaccggta	18	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:145075752C>T	uc001emh.2	-	1	328	c.111G>A	c.(109-111)ACG>ACA	p.T37T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Silent_p.T37T|PDE4DIP_uc001emk.2_Silent_p.T37T	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGGGTTCGCGTCGCGTCCC	0.726			T	PDGFRB	MPD								T	145075752	C	T	145075752	2	4	272	1	0	0	0	0	0	0	0	1	11643	755	27	1		1	PDE4DIP	1	145075752	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	27440274	145075752	104174869	98	135209											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473629	145473629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctgctccttgcccacGgcgcagacccctcagtccga	9	20	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:145473629G>A	uc001enq.1	+	4	1594	c.301G>A	c.(301-303)GGC>AGC	p.G101S	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	101	ANK 3.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTTGCCCACGGCGCAGACCC	0.726													A	145473629	G	A	145473629	3	1	272	1	0	0	0	0	1	0	0	0	662	1116	39	1	303	1	ANKRD34A	1	145473629	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	397877	145473629	103776992	99	135210											
PRKAB2	5565	broad.mit.edu	37	chr1	146639440	146639440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggataacagtgggccGggcctgctgtgtgggcttta	16	10	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:146639440G>A	uc001epe.2	-	3	374	c.229C>T	c.(229-231)CGG>TGG	p.R77W	PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.R77W	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	77					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				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	ACAGTGGGCCGGGCCTGCTGT	0.522													A	146639440	G	A	146639440	3	1	272	1	0	0	0	0	1	0	0	0	12496	1115	39	1	613	1	PRKAB2	1	146639440	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1165811	146639440	102611181	100	135211											
ACP6	51205	broad.mit.edu	37	chr1	147119279	147119279	+	Frame_Shift_Del	DEL	T	T	-													tgagagcagagtgcgtggtaTttttctgggcttaaggtata							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:147119278_147119278AT>A	uc001epr.2	-	9	1698	c.1234_1234AT>T	c.(1234-1236)tacfs	p.Y412fs		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	412					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)					AGTGCGTGGTATTTTTCTGGG	0.443													-	147119279	T	-	147119279	7	5	272	1	0	1	0	1	0	0	0	0	165	1490	52	0	57	0	ACP6	1	147119279	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	479839	147119279	102131342	101	135212											
GJA8	2703	broad.mit.edu	37	chr1	147380280	147380280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgagaacgtctgctaCgacgaggcctttcccatctc	11	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:147380280C>T	uc001epu.1	+	2	261	c.198C>T	c.(196-198)TAC>TAT	p.Y66Y		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	66	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					ACGTCTGCTACGACGAGGCCT	0.617													T	147380280	C	T	147380280	2	4	272	1	0	0	0	0	0	0	0	1	6405	547	19	1		1	GJA8	1	147380280	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	261001	147380280	101870341	102	135213											
RPRD2	23248	broad.mit.edu	37	chr1	150444621	150444621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactaccgcatagaaacccGcgtctcctcctcctgcttag	7	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:150444621G>A	uc009wlr.2	+	11	3398	c.3197G>A	c.(3196-3198)CGC>CAC	p.R1066H	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1040H	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1066							protein binding			ovary(1)	1						ATAGAAACCCGCGTCTCCTCC	0.522													A	150444621	G	A	150444621	3	1	272	1	0	0	0	0	1	0	0	0	13617	1087	38	1	3239	1	RPRD2	1	150444621	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3064341	150444621	98806000	103	135214											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530506	150530507	+	Frame_Shift_Ins	INS	-	-	G													gcagtgccggcaggaatttgINSgggggggtggctcctcggtg					rs149280379		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:150530505_150530506T>TG	uc009wlw.3	+	13	2489_2490	c.2331_2332T>TG	c.(2329-2334)tttgggfs	p.F777fs	ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.F715fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	754	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.F754L(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)			GGCAGGAATTTGGGGGGGGTGG	0.693													G	150530507	-	G	150530506	7	5	272	1	0	1	1	0	0	0	0	0	277	1348	47	0	2309	0	ADAMTSL4	1	150530506	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	85885	150530506	98720115	104	135215											
SETDB1	9869	broad.mit.edu	37	chr1	150923182	150923182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttactatatgacttccggcGgatgacagcccggcgtcgag	13	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:150923182G>A	uc001evu.2	+	13	2019	c.1829G>A	c.(1828-1830)CGG>CAG	p.R610Q	SETDB1_uc009wmf.2_Missense_Mutation_p.R611Q|SETDB1_uc001evv.2_Missense_Mutation_p.R610Q|SETDB1_uc009wmg.1_Missense_Mutation_p.R610Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	610	MBD.				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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			GACTTCCGGCGGATGACAGCC	0.527													A	150923182	G	A	150923182	3	1	272	1	0	0	0	0	1	0	0	0	14138	1116	39	1	1875	1	SETDB1	1	150923182	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	392676	150923182	98327439	105	135216											
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131319	151131319	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgtgtgtccaaggagtAcacgcacagccggccccagg	12	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151131319A>G	uc001ewx.2	+	2	272	c.146A>G	c.(145-147)TAC>TGC	p.Y49C		NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein	49					innate immune response						0	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)			TCCAAGGAGTACACGCACAGC	0.572													G	151131319	A	G	151131319	3	3	272	1	0	0	0	0	1	0	0	0	16275	391	14	3	148	3	TNFAIP8L2	1	151131319	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	208137	151131319	98119302	106	135217											
ZNF687	57592	broad.mit.edu	37	chr1	151262662	151262662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcccccagcctgaggcGccatgtcagagttaatcacg	10	16	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151262662G>A	uc001exq.2	+	7	3127	c.3029G>A	c.(3028-3030)CGC>CAC	p.R1010H	ZNF687_uc009wmo.2_Missense_Mutation_p.R1010H|ZNF687_uc009wmp.2_Missense_Mutation_p.R1010H	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1010	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			AGCCTGAGGCGCCATGTCAGA	0.592													A	151262662	G	A	151262662	3	1	272	1	0	0	0	0	1	0	0	0	18089	1087	38	1	3051	1	ZNF687	1	151262662	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	131343	151262662	97987959	107	135218											
ZNF687	57592	broad.mit.edu	37	chr1	151263646	151263646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcacgcatggcatggcGttcatcagggctcggcaggg	15	12	2	0	rs137887486		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151263646G>A	uc001exq.2	+	9	3773	c.3675G>A	c.(3673-3675)GCG>GCA	p.A1225A	ZNF687_uc009wmo.2_Silent_p.A1225A|ZNF687_uc009wmp.2_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			ATGGCATGGCGTTCATCAGGG	0.612													A	151263646	G	A	151263646	2	1	272	1	0	0	0	0	0	0	0	1	18089	1132	40	1		1	ZNF687	1	151263646	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	984	151263646	97986975	108	135219											
PSMB4	5692	broad.mit.edu	37	chr1	151372478	151372478	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccccatggtgaccgggacCtcagtcctcggcgttaagtt	11	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151372478C>A	uc001eyc.1	+	2	185	c.162C>A	c.(160-162)ACC>ACA	p.T54T	PSMB4_uc010pda.1_Silent_p.T54T|PSMB4_uc001eyb.1_Silent_p.T54T	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	54					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			ovary(2)	2	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)			TGACCGGGACCTCAGTCCTCG	0.592													A	151372478	C	A	151372478	2	1	272	1	0	0	0	0	0	0	0	1	12679	668	24	5		5	PSMB4	1	151372478	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	108832	151372478	97878143	109	135220											
CGN	57530	broad.mit.edu	37	chr1	151509788	151509788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtccattgcatcactgcTtacggagagcaacctacaga	8	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151509788T>G	uc009wmw.2	+	21	3722	c.3578T>G	c.(3577-3579)CTT>CGT	p.L1193R	TUFT1_uc001eyl.2_5'Flank|TUFT1_uc001eym.2_5'Flank|TUFT1_uc010pdf.1_5'Flank|TUFT1_uc010pdg.1_5'Flank|CGN_uc010pde.1_Missense_Mutation_p.L187R	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1187	Tail.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	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)			GCATCACTGCTTACGGAGAGC	0.552													G	151509788	T	G	151509788	3	3	272	1	0	0	0	0	1	0	0	0	3303	1609	56	5	3656	5	CGN	1	151509788	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	137310	151509788	97740833	110	135221											
CELF3	11189	broad.mit.edu	37	chr1	151682225	151682225	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagaacctacctcctcGgctctcgctgtcggctggct	11	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151682225G>A	uc001eys.1	-	3	1065	c.271C>T	c.(271-273)CGA>TGA	p.R91*	CELF3_uc010pdh.1_5'Flank|CELF3_uc001eyr.2_Nonsense_Mutation_p.R91*|CELF3_uc009wmy.2_Nonsense_Mutation_p.R91*|CELF3_uc009wmx.1_Nonsense_Mutation_p.R91*|CELF3_uc001eyt.2_Nonsense_Mutation_p.R15*|CELF3_uc010pdi.1_Nonsense_Mutation_p.R91*|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	91					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						CTACCTCCTCGGCTCTCGCTG	0.607													A	151682225	G	A	151682225	4	1	272	1	0	0	0	0	0	1	0	0	3217	1124	39	1	1166	1	CELF3	1	151682225	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	172437	151682225	97568396	111	135222											
TCHH	7062	broad.mit.edu	37	chr1	152084711	152084711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcctcctgctgctcgcGcctctcctgctgctcgcgcc	8	22	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:152084711G>A	uc001ezp.2	-	2	982	c.982C>T	c.(982-984)CGC>TGC	p.R328C	TCHH_uc009wne.1_Missense_Mutation_p.R328C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	328	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-2; approximate.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctgc	0													A	152084711	G	A	152084711	3	1	272	1	0	0	0	0	1	0	0	0	15697	1087	38	1	4853	1	TCHH	1	152084711	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	402486	152084711	97165910	112	135223											
FLG2	388698	broad.mit.edu	37	chr1	152329055	152329055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actagaagagtttgaaaagcGgccacaggaaccatattcat	9	8	1	3	rs145274102		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:152329055G>A	uc001ezw.3	-	3	1280	c.1207C>T	c.(1207-1209)CGC>TGC	p.R403C	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	403	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGAAAAGCGGCCACAGGAA	0.428													A	152329055	G	A	152329055	3	1	272	1	0	0	0	0	1	0	0	0	5923	1116	39	1	5972	1	FLG2	1	152329055	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	244344	152329055	96921566	113	135224											
SPRR4	163778	broad.mit.edu	37	chr1	152944454	152944454	+	Frame_Shift_Del	DEL	C	C	-													tgaagcagccttgtcagccaCcccctgttaaatgtcaagag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:152944453_152944453AC>A	uc001fav.1	+	1	150	c.87_87AC>A	c.(85-87)ccafs	p.P29fs	SPRR4_uc021ozm.1_Frame_Shift_Del_p.P29fs	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	29	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGTCAGCCACCCCCTGTTA	0.572													-	152944454	C	-	152944454	7	5	272	1	0	1	0	1	0	0	0	0	15103	507	18	0	90	0	SPRR4	1	152944454	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	615399	152944454	96306167	114	135225											
S100A13	6284	broad.mit.edu	37	chr1	153598863	153598863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgctgaggctatccttcCggccctcctgccttgcaaag	10	15	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:153598863C>T	uc001fcf.3	-	2	245	c.86G>A	c.(85-87)CGG>CAG	p.R29Q	S100A13_uc001fcg.2_Missense_Mutation_p.R29Q|S100A13_uc009woh.2_Missense_Mutation_p.R29Q|S100A13_uc001fch.2_Missense_Mutation_p.R29Q|S100A13_uc001fci.2_Missense_Mutation_p.R29Q|S100A13_uc001fcj.2_Missense_Mutation_p.R29Q|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_001019384	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	29	1.|EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding				0	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)		Amlexanox(DB01025)	GCTATCCTTCCGGCCCTCCTG	0.552													T	153598863	C	T	153598863	3	4	272	1	0	0	0	0	1	0	0	0	13775	652	23	1	218	1	S100A13	1	153598863	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	654409	153598863	95651758	115	135226											
DENND4B	9909	broad.mit.edu	37	chr1	153914704	153914704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacaaaggtggagaagaCgggcacggggtacttggtct	17	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:153914704C>T	uc001fdd.1	-	5	1170	c.769G>A	c.(769-771)GTC>ATC	p.V257I		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	257	UDENN.									ovary(1)	1	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)			GTGGAGAAGACGGGCACGGGG	0.632													T	153914704	C	T	153914704	3	4	272	1	0	0	0	0	1	0	0	0	4434	536	19	1	3817	1	DENND4B	1	153914704	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	315841	153914704	95335917	116	135227											
UBAP2L	9898	broad.mit.edu	37	chr1	154223782	154223782	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagaagaaaaaagcctcCttgacttctaaggtacttaa	7	9	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154223782C>A	uc001fep.3	+	13	1646	c.1479C>A	c.(1477-1479)TCC>TCA	p.S493S	UBAP2L_uc009wot.2_Silent_p.S493S|UBAP2L_uc010pek.1_Silent_p.S485S|UBAP2L_uc010pel.1_Silent_p.S503S|UBAP2L_uc010pen.1_Silent_p.S407S	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	493					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAAAGCCTCCTTGACTTCTA	0.448													A	154223782	C	A	154223782	2	1	272	1	0	0	0	0	0	0	0	1	16835	668	24	5		5	UBAP2L	1	154223782	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	309078	154223782	95026839	117	135228											
ADAR	103	broad.mit.edu	37	chr1	154557515	154557515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgggacaattcattccGtggcctagagaaacaaaagc	10	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154557515G>A	uc001ffh.2	-	15	3648	c.3448C>T	c.(3448-3450)CGG>TGG	p.R1150W	ADAR_uc001ffj.2_Missense_Mutation_p.R1105W|ADAR_uc001ffi.2_Missense_Mutation_p.R1124W|ADAR_uc001ffk.2_Missense_Mutation_p.R855W	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	1150	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			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)		AATTCATTCCGTGGCCTAGAG	0.498													A	154557515	G	A	154557515	3	1	272	1	0	0	0	0	1	0	0	0	281	1144	40	1	236	1	ADAR	1	154557515	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	333733	154557515	94693106	118	135229											
PBXIP1	57326	broad.mit.edu	37	chr1	154917508	154917509	+	In_Frame_Ins	INS	-	-	GGT													ggggcagggtgtcagccccgINSgtggtggtggtggtggctat					rs143592003		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154917507_154917508C>CGGT	uc001ffr.3	-	10	2247_2248	c.2188_2189G>ACCG	c.(2188-2190)cgg>ACCGg	p.R730T	PBXIP1_uc001ffs.3_In_Frame_Ins_p.R701T|PBXIP1_uc010pep.2_In_Frame_Ins_p.R575T	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	730					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)			GTGTCAGCCCCGGTGGTGGTGG	0.634													GGT	154917509	-	GGT	154917508	7	5	272	1	0	1	1	0	0	0	0	0	11496	1115	39	0	11	0	PBXIP1	1	154917508	In_Frame_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	359993	154917508	94333113	119	135230											
SHC1	6464	broad.mit.edu	37	chr1	154942742	154942742	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccctccccatcatcagcTgcccttcctggctccccctt	4	22	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154942742T>G	uc001ffv.2	-	1	482	c.261A>C	c.(259-261)GCA>GCC	p.A87A	SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Silent_p.A87A|SHC1_uc001ffx.2_Intron|SHC1_uc001ffy.2_Intron	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	87					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			lung(1)|skin(1)	2	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)			CATCATCAGCTGCCCTTCCTG	0.672													G	154942742	T	G	154942742	2	3	272	1	0	0	0	0	0	0	0	1	14270	1567	55	5		5	SHC1	1	154942742	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	25234	154942742	94307879	120	135231											
CLK2	1196	broad.mit.edu	37	chr1	155240683	155240683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaggagcgacttcttcgtCgcttatgctttcggctccga	10	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:155240683C>T	uc001fjy.2	-	2	376	c.86G>A	c.(85-87)CGA>CAA	p.R29Q	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.R29Q|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.R29Q	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	29						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	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)			ACTTCTTCGTCGCTTATGCTT	0.592								Other_conserved_DNA_damage_response_genes					T	155240683	C	T	155240683	3	4	272	1	0	0	0	0	1	0	0	0	3537	884	31	1	1458	1	CLK2	1	155240683	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	297941	155240683	94009938	121	135232											
ARHGEF2	9181	broad.mit.edu	37	chr1	155924705	155924705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttactcttaattcgccGcaggtaagcctcatcctctg	8	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:155924705G>A	uc001fmt.2	-	14	1889	c.1771C>T	c.(1771-1773)CGG>TGG	p.R591W	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R563W|ARHGEF2_uc001fms.2_Missense_Mutation_p.R590W|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R635W	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	591	Potential.				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			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTAATTCGCCGCAGGTAAGCC	0.313													A	155924705	G	A	155924705	3	1	272	1	0	0	0	0	1	0	0	0	903	1086	38	1	1225	1	ARHGEF2	1	155924705	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	684022	155924705	93325916	122	135233											
IQGAP3	128239	broad.mit.edu	37	chr1	156510583	156510583	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctgctgattggatcGgatcttcctaactacctctt	7	13	2	1	rs138977257	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156510583G>A	uc001fpf.2	-	23	2731	c.2656C>T	c.(2656-2658)CGA>TGA	p.R886*		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	886					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATTGGATCGGATCTTCCTA	0.527													A	156510583	G	A	156510583	4	1	272	1	0	0	0	0	0	1	0	0	7816	1124	39	1	2303	1	IQGAP3	1	156510583	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	585878	156510583	92740038	123	135234											
BCAN	63827	broad.mit.edu	37	chr1	156617400	156617400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccacatcgccaccccGgagcagctctatgccgccta	10	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156617400G>A	uc001fpp.2	+	4	903	c.567G>A	c.(565-567)CCG>CCA	p.P189P	BCAN_uc001fpo.2_Silent_p.P189P	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	189	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGCCACCCCGGAGCAGCTCT	0.632													A	156617400	G	A	156617400	2	1	272	1	0	0	0	0	0	0	0	1	1345	1103	39	1		1	BCAN	1	156617400	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	106817	156617400	92633221	124	135235											
C1orf66	51093	broad.mit.edu	37	chr1	156702120	156702120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggccctgaagtccacggCgtgtgccctggcctttaccc	12	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156702120C>T	uc001fpu.2	+	3	918	c.284C>T	c.(283-285)GCG>GTG	p.A95V	C1orf66_uc001fpv.2_Missense_Mutation_p.A95V	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	95						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGTCCACGGCGTGTGCCCTG	0.592													T	156702120	C	T	156702120	3	4	272	1	0	0	0	0	1	0	0	0	2056	768	27	1	294	1	C1orf66	1	156702120	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	84720	156702120	92548501	125	135236											
PRCC	5546	broad.mit.edu	37	chr1	156761536	156761537	+	Frame_Shift_Ins	INS	-	-	C													cacaggacccggccctggtcINScccccccaggaaattgcccc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156761535_156761536T>TC	uc001fqa.3	+	3	1420_1421	c.1130_1131T>TC	c.(1129-1131)gtcfs	p.V377fs		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	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)					CCGGCCCTGGTCCCCCCCCAGG	0.53			T	TFE3	papillary renal								C	156761537	-	C	156761536	7	5	272	1	0	1	1	0	0	0	0	0	12447	842	30	0	1145	0	PRCC	1	156761536	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	59416	156761536	92489085	126	135237											
INSRR	3645	broad.mit.edu	37	chr1	156821779	156821779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcacagagtgcaggctgGcacagcgctcagctgtgaca	15	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156821779G>A	uc010pht.1	-	3	1096	c.842C>T	c.(841-843)GCC>GTC	p.A281V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.A281V	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	281					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			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCAGGCTGGCACAGCGCTC	0.657													A	156821779	G	A	156821779	3	1	272	1	0	0	0	0	1	0	0	0	7774	1203	42	2	3130	2	INSRR	1	156821779	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	60243	156821779	92428842	127	135238											
INSRR	3645	broad.mit.edu	37	chr1	156823914	156823914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgcaggctctccagtccGtagacacggaagagcagcag	13	13	1	2	rs62640942	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156823914G>A	uc010pht.1	-	2	521	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Silent_p.Y89Y	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	89					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			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTCCAGTCCGTAGACACGGA	0.617													A	156823914	G	A	156823914	2	1	272	1	0	0	0	0	0	0	0	1	7774	1140	40	1		1	INSRR	1	156823914	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2135	156823914	92426707	128	135239											
NTRK1	4914	broad.mit.edu	37	chr1	156843506	156843506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggatgggcagccggcacCgtctctgcgctggctcttca	14	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156843506C>T	uc001fqh.1	+	8	988	c.932C>T	c.(931-933)CCG>CTG	p.P311L	NTRK1_uc001fqf.1_Missense_Mutation_p.P281L|NTRK1_uc009wsi.1_Missense_Mutation_p.P16L|NTRK1_uc001fqi.1_Missense_Mutation_p.P311L|NTRK1_uc009wsk.1_Missense_Mutation_p.P311L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	311	Ig-like C2-type 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAGCCGGCACCGTCTCTGCGC	0.627			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			T	156843506	C	T	156843506	3	4	272	1	0	0	0	0	1	0	0	0	10706	652	23	1	1092	1	NTRK1	1	156843506	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	19592	156843506	92407115	129	135240											
ARHGEF11	9826	broad.mit.edu	37	chr1	156918229	156918229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctgcctttcgagaccGtttcatctcttcccggccct	7	16	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156918229G>A	uc001fqo.2	-	22	2907	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	ARHGEF11_uc010phu.1_Missense_Mutation_p.R39W|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R663W|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R142W	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	623					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTCGAGACCGTTTCATCTCT	0.587													A	156918229	G	A	156918229	3	1	272	1	0	0	0	0	1	0	0	0	896	1144	40	1	2777	1	ARHGEF11	1	156918229	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	74723	156918229	92332392	130	135241											
ETV3L	440695	broad.mit.edu	37	chr1	157067714	157067714	+	Frame_Shift_Del	DEL	G	G	-													agaggtctctggtggccctcGgggggtctgctgtcctgtca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:157067713_157067713CG>C	uc001fqq.2	-	3	839	c.554_554CG>G	c.(553-555)cgafs	p.R185fs		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	185						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)				TGGTGGCCCTCGGGGGGTCTG	0.617													-	157067714	G	-	157067714	7	5	272	1	0	1	0	1	0	0	0	0	5280	1124	39	0	540	0	ETV3L	1	157067714	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	149485	157067714	92182907	131	135242											
SPTA1	6708	broad.mit.edu	37	chr1	158622409	158622409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgttgcaatagacgacgtcTgcgttcttctgcccgatcca	9	13	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:158622409T>C	uc001fst.1	-	23	3422	c.3223A>G	c.(3223-3225)AGA>GGA	p.R1075G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1075					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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGACGACGTCTGCGTTCTTCT	0.438													C	158622409	T	C	158622409	3	2	272	1	0	0	0	0	1	0	0	0	15115	1588	55	3	4156	3	SPTA1	1	158622409	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1554695	158622409	90628212	132	135243											
MNDA	4332	broad.mit.edu	37	chr1	158815592	158815592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgaaagagaaatttgtaagGaagaaggtcattaccatatc	9	4	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:158815592G>T	uc001fsz.1	+	5	986	c.786G>T	c.(784-786)AGG>AGT	p.R262S		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	262	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			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AATTTGTAAGGAAGAAGGTCA	0.353													T	158815592	G	T	158815592	3	4	272	1	0	0	0	0	1	0	0	0	9676	1165	41	5	800	5	MNDA	1	158815592	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	193183	158815592	90435029	133	135244											
FCRL6	343413	broad.mit.edu	37	chr1	159779226	159779226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgctcactctgcaccaCgggcctgctgaccctgctgt	10	17	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:159779226C>T	uc001fud.3	+	5	681	c.639C>T	c.(637-639)CAC>CAT	p.H213H	FCRL6_uc001fuc.2_Silent_p.H220H|FCRL6_uc009wsz.1_Silent_p.H118H|FCRL6_uc009wta.2_Silent_p.H213H	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	213	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					CTCTGCACCACGGGCCTGCTG	0.627													T	159779226	C	T	159779226	2	4	272	1	0	0	0	0	0	0	0	1	5799	535	19	1		1	FCRL6	1	159779226	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	963634	159779226	89471395	134	135245											
SLAMF8	56833	broad.mit.edu	37	chr1	159799767	159799767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccgtgaggctatctggcGatctctctggccttcagaag	12	11	4	2	rs140969397		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:159799767G>A	uc001fue.3	+	2	362	c.152G>A	c.(151-153)CGA>CAA	p.R51Q		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	51	Extracellular (Potential).					integral to membrane					0	all_hematologic(112;0.0597)					GCTATCTGGCGATCTCTCTGG	0.612													A	159799767	G	A	159799767	3	1	272	1	0	0	0	0	1	0	0	0	14370	1058	37	1	158	1	SLAMF8	1	159799767	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	20541	159799767	89450854	135	135246											
IGSF8	93185	broad.mit.edu	37	chr1	160064775	160064775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaatcttgagcaccacgGcatcaccttgtaggcgctgc	12	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:160064775G>A	uc001fva.2	-	2	371	c.326C>T	c.(325-327)GCC>GTC	p.A109V	IGSF8_uc001fuz.2_Missense_Mutation_p.A109V|IGSF8_uc009wtf.2_Missense_Mutation_p.A109V	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	109	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	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)			GAGCACCACGGCATCACCTTG	0.607													A	160064775	G	A	160064775	3	1	272	1	0	0	0	0	1	0	0	0	7604	1203	42	2	1535	2	IGSF8	1	160064775	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	265008	160064775	89185846	136	135247											
NCSTN	23385	broad.mit.edu	37	chr1	160325683	160325683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggccacggtgctgggaCgtgctctgtatgagcttgca	15	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:160325683C>T	uc001fvx.2	+	13	1610	c.1486C>T	c.(1486-1488)CGT>TGT	p.R496C	NCSTN_uc001fvy.2_Missense_Mutation_p.R476C|NCSTN_uc010pjf.1_Missense_Mutation_p.R358C|NCSTN_uc001fvz.2_Missense_Mutation_p.R276C|NCSTN_uc010pjg.1_Missense_Mutation_p.R238C	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	496	Extracellular (Potential).				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			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGCTGGGACGTGCTCTGTA	0.552													T	160325683	C	T	160325683	3	4	272	1	0	0	0	0	1	0	0	0	10241	536	19	1	1536	1	NCSTN	1	160325683	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	260908	160325683	88924938	137	135248											
CD84	8832	broad.mit.edu	37	chr1	160535331	160535331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggacctaaggcatgtatcCgttcataataatttctgtgg	9	8	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:160535331C>T	uc001fwh.3	-	2	275	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	CD84_uc001fwf.3_Missense_Mutation_p.R84Q|CD84_uc001fwg.3_Missense_Mutation_p.R84Q|CD84_uc009wtn.2_Missense_Mutation_p.R84Q|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Missense_Mutation_p.R84Q|CD84_uc001fwk.2_Missense_Mutation_p.R84Q	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	84	Extracellular (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.R84W(1)		ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCATGTATCCGTTCATAATA	0.438													T	160535331	C	T	160535331	3	4	272	1	0	0	0	0	1	0	0	0	3042	652	23	1	814	1	CD84	1	160535331	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	209648	160535331	88715290	138	135249											
USF1	7391	broad.mit.edu	37	chr1	161010422	161010422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattatcttggagagctgcaCgatccagttgttgatcttgt	11	7	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:161010422C>T	uc001fxi.2	-	9	853	c.658G>A	c.(658-660)GTG>ATG	p.V220M	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Missense_Mutation_p.V161M	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	220	Helix-loop-helix motif.				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			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGAGCTGCACGATCCAGTTG	0.547													T	161010422	C	T	161010422	3	4	272	1	0	0	0	0	1	0	0	0	17029	536	19	1	286	1	USF1	1	161010422	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	475091	161010422	88240199	139	135250											
FCGR2A	2212	broad.mit.edu	37	chr1	161479826	161479826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggaaacataggctacaCgctgttctcatccaagcctg	8	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:161479826C>T	uc001gan.2	+	4	634	c.581C>T	c.(580-582)ACG>ATG	p.T194M	FCGR2A_uc001gam.2_Missense_Mutation_p.T193M|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	194	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	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)	ATAGGCTACACGCTGTTCTCA	0.517													T	161479826	C	T	161479826	3	4	272	1	0	0	0	0	1	0	0	0	5781	536	19	1	595	1	FCGR2A	1	161479826	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	469404	161479826	87770795	140	135251											
DDR2	4921	broad.mit.edu	37	chr1	162745616	162745616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctaattcttcctccagCgatgtacgcactgtcaggta	7	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:162745616C>T	uc001gcf.2	+	16	2496	c.2031C>T	c.(2029-2031)AGC>AGT	p.S677S	DDR2_uc001gcg.2_Silent_p.S677S	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	677	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTTCCTCCAGCGATGTACGCA	0.483													T	162745616	C	T	162745616	2	4	272	1	0	0	0	0	0	0	0	1	4337	767	27	1		1	DDR2	1	162745616	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1265790	162745616	86505005	141	135252											
LMX1A	4009	broad.mit.edu	37	chr1	165179968	165179968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttggaaccacacctggaCgacacggacactcagccctg	10	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:165179968C>T	uc001gcy.1	-	5	936	c.715G>A	c.(715-717)GTC>ATC	p.V239I	LMX1A_uc001gcz.1_Missense_Mutation_p.V239I|LMX1A_uc001gcw.1_5'UTR|LMX1A_uc001gcx.1_5'UTR	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	239	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V239I(1)		central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CACACCTGGACGACACGGACA	0.478													T	165179968	C	T	165179968	3	4	272	1	0	0	0	0	1	0	0	0	8861	536	19	1	449	1	LMX1A	1	165179968	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2434352	165179968	84070653	142	135253											
POGK	57645	broad.mit.edu	37	chr1	166815887	166815887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggccatatatttttcCgatgaggaatgggaagtttt	13	4	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:166815887C>T	uc001gdt.1	+	3	291	c.171C>T	c.(169-171)TCC>TCT	p.S57S	POGK_uc010ple.1_Intron|POGK_uc010plf.1_Intron	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	57	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TATATTTTTCCGATGAGGAAT	0.473													T	166815887	C	T	166815887	2	4	272	1	0	0	0	0	0	0	0	1	12185	639	23	1		1	POGK	1	166815887	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1635919	166815887	82434734	143	135254											
RCSD1	92241	broad.mit.edu	37	chr1	167654711	167654712	+	Frame_Shift_Ins	INS	-	-	C													cctgttccctccccctgttcINSccccccaaggtagacctggg					rs144007158	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:167654710_167654711T>TC	uc001gem.3	+	2	348_349	c.161_162T>TC	c.(160-162)ttcfs	p.F54fs	RCSD1_uc010pli.2_Intron	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	54										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)					CTCCCCCTGTTCCCCCCCAAGG	0.554													C	167654712	-	C	167654711	7	5	272	1	0	1	1	0	0	0	0	0	13185	854	30	0	172	0	RCSD1	1	167654711	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	838824	167654711	81595910	144	135255											
ADCY10	55811	broad.mit.edu	37	chr1	167830192	167830192	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcgaaggttggtctgtcGttctttataatgtttacaag	9	5	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:167830192G>A	uc001ger.2	-	15	2024	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	ADCY10_uc009wvk.2_Nonsense_Mutation_p.R484*|ADCY10_uc010plj.1_Nonsense_Mutation_p.R423*|ADCY10_uc009wvl.2_Nonsense_Mutation_p.R575*	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	576					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TTGGTCTGTCGTTCTTTATAA	0.363													A	167830192	G	A	167830192	4	1	272	1	0	0	0	0	0	1	0	0	293	1153	40	1	3182	1	ADCY10	1	167830192	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	175481	167830192	81420429	145	135256											
TNN	63923	broad.mit.edu	37	chr1	175092540	175092540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctttttaaaaagaaatTgacggccccaaaaacctagt	5	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:175092540T>C	uc001gkl.1	+	12	2768	c.2655T>C	c.(2653-2655)ATT>ATC	p.I885I		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	885	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AAAAAGAAATTGACGGCCCCA	0.463													C	175092540	T	C	175092540	2	2	272	1	0	0	0	0	0	0	0	1	16320	1800	63	3		3	TNN	1	175092540	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	7262348	175092540	74158081	146	135257											
TNR	7143	broad.mit.edu	37	chr1	175375480	175375480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactggcacatggacagGcctttttggggaagttgatc	13	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:175375480G>A	uc001gkp.1	-	1	452	c.371C>T	c.(370-372)GCC>GTC	p.A124V	TNR_uc009wwu.1_Missense_Mutation_p.A124V|TNR_uc010pmz.1_Missense_Mutation_p.A124V	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	124					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACATGGACAGGCCTTTTTGGG	0.592													A	175375480	G	A	175375480	3	1	272	1	0	0	0	0	1	0	0	0	16335	1203	42	2	3789	2	TNR	1	175375480	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	282940	175375480	73875141	147	135258											
ASTN1	460	broad.mit.edu	37	chr1	176999987	176999987	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctggctgctggaggtgtGagagagaagggtggcttgct	18	6	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:176999987G>T	uc001glc.2	-	4	1179	c.967C>A	c.(967-969)CAC>AAC	p.H323N	ASTN1_uc001glb.1_Missense_Mutation_p.H323N|ASTN1_uc001gld.1_Missense_Mutation_p.H323N|ASTN1_uc009wwx.1_Missense_Mutation_p.H323N|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	323					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CTGGAGGTGTGAGAGAGAAGG	0.478													T	176999987	G	T	176999987	3	4	272	1	0	0	0	0	1	0	0	0	1064	1290	45	5	3001	5	ASTN1	1	176999987	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1624507	176999987	72250634	148	135259											
FAM5B	57795	broad.mit.edu	37	chr1	177199214	177199214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggggccccttccaccgcGctcaggagtatgctgacttc	11	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177199214G>A	uc001glf.2	+	2	514	c.202G>A	c.(202-204)GCT>ACT	p.A68T		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	68						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTTCCACCGCGCTCAGGAGTA	0.637													A	177199214	G	A	177199214	3	1	272	1	0	0	0	0	1	0	0	0	5593	1087	38	1	204	1	FAM5B	1	177199214	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	199227	177199214	72051407	149	135260											
FAM5B	57795	broad.mit.edu	37	chr1	177250252	177250252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagttcatgtttacctacGgagccgaatcaagtccctgg	10	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177250252G>A	uc001glf.2	+	8	2252	c.1940G>A	c.(1939-1941)CGG>CAG	p.R647Q	FAM5B_uc001glg.2_Missense_Mutation_p.R542Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	647						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GTTTACCTACGGAGCCGAATC	0.463													A	177250252	G	A	177250252	3	1	272	1	0	0	0	0	1	0	0	0	5593	1116	39	1	1966	1	FAM5B	1	177250252	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	51038	177250252	72000369	150	135261											
SEC16B	89866	broad.mit.edu	37	chr1	177901700	177901700	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggatcctcggccttcaccCccacctggaaagtaatgagg	11	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177901700C>A	uc001gli.1	-	24	3027	c.2937G>T	c.(2935-2937)GGG>GGT	p.G979G	SEC16B_uc001glk.1_Silent_p.G656G|SEC16B_uc009wwy.1_Missense_Mutation_p.G498V|SEC16B_uc001glh.1_Silent_p.G639G|SEC16B_uc009wwz.1_Silent_p.G638G|SEC16B_uc001glj.1_Silent_p.G980G	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	979					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						GGCCTTCACCCCCACCTGGAA	0.662													A	177901700	C	A	177901700	2	1	272	1	0	0	0	0	0	0	0	1	13987	610	22	5		5	SEC16B	1	177901700	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	651448	177901700	71348921	151	135262											
SEC16B	89866	broad.mit.edu	37	chr1	177909758	177909758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcacctccagctgcctcCgaagttgcgctagccaatct	7	17	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177909758C>T	uc001gli.1	-	17	2204	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q	SEC16B_uc001glk.1_Missense_Mutation_p.R382Q|SEC16B_uc009wwy.1_Missense_Mutation_p.R260Q|SEC16B_uc001glh.1_Missense_Mutation_p.R364Q|SEC16B_uc009wwz.1_Missense_Mutation_p.R364Q|SEC16B_uc001glj.1_Missense_Mutation_p.R706Q	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	705					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						CAGCTGCCTCCGAAGTTGCGC	0.572													T	177909758	C	T	177909758	3	4	272	1	0	0	0	0	1	0	0	0	13987	652	23	1	1108	1	SEC16B	1	177909758	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8058	177909758	71340863	152	135263											
RALGPS2	55103	broad.mit.edu	37	chr1	178861408	178861408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtgacaagagtggcaCgaaatggctatcgaagtcac	13	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:178861408C>T	uc001glz.2	+	15	1629	c.1291C>T	c.(1291-1293)CGA>TGA	p.R431*	RALGPS2_uc010pnb.1_Intron	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	431					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						AAGAGTGGCACGAAATGGCTA	0.433													T	178861408	C	T	178861408	4	4	272	1	0	0	0	0	0	1	0	0	13018	528	19	1	1345	1	RALGPS2	1	178861408	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	951650	178861408	70389213	153	135264											
CEP350	9857	broad.mit.edu	37	chr1	179991857	179991857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagacaagttggacagagGaacatcaacatcacggcctt	10	9	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:179991857G>A	uc001gnt.2	+	13	3643	c.3260G>A	c.(3259-3261)GGA>GAA	p.G1087E	CEP350_uc009wxl.2_Missense_Mutation_p.G1086E|CEP350_uc001gnu.2_Missense_Mutation_p.G921E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1087						centrosome|nucleus|spindle				ovary(4)	4						TTGGACAGAGGAACATCAACA	0.413													A	179991857	G	A	179991857	3	1	272	1	0	0	0	0	1	0	0	0	3254	1174	41	4	3306	4	CEP350	1	179991857	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1130449	179991857	69258764	154	135265											
IER5	51278	broad.mit.edu	37	chr1	181058046	181058046	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggaagcagatggagtTcaagctggaggctcatcgca	16	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:181058046T>A	uc001got.3	+	1	409	c.8T>A	c.(7-9)TTC>TAC	p.F3Y		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	3										pancreas(1)	1						CAGATGGAGTTCAAGCTGGAG	0.622													A	181058046	T	A	181058046	3	1	272	1	0	0	0	0	1	0	0	0	7508	1783	62	5	10	5	IER5	1	181058046	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1066189	181058046	68192575	155	135266											
RGS8	85397	broad.mit.edu	37	chr1	182615870	182615870	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggagttcccttctgaggtCtaactgagcctcctctggct	10	13	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:182615870C>T	uc010pnw.1	-	7	801	c.543G>A	c.(541-543)TAG>TAA	p.*181*	RGS8_uc001gpn.1_Silent_p.*181*|RGS8_uc001gpm.1_Silent_p.*199*	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 2	181					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						CTTCTGAGGTCTAACTGAGCC	0.483													T	182615870	C	T	182615870	2	4	272	1	0	0	0	0	0	0	0	1	13312	924	32	4		4	RGS8	1	182615870	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1557824	182615870	66634751	156	135267											
C1orf14	81626	broad.mit.edu	37	chr1	182922238	182922238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgcggaatgagtccgCgggcaccgaggccttggagc	18	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:182922238C>T	uc001gpu.2	-	1	316	c.31G>A	c.(31-33)GCG>ACG	p.A11T	C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	83											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		AATGAGTCCGCGGGCACCGAG	0.716													T	182922238	C	T	182922238	3	4	272	1	0	0	0	0	1	0	0	0	2000	768	27	1	1970	1	C1orf14	1	182922238	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	306368	182922238	66328383	157	135268											
HMCN1	83872	broad.mit.edu	37	chr1	186055508	186055508	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaagaatgaacagcccatCaaactgaacacaaatactct	4	12	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:186055508C>T	uc001grq.1	+	58	9244	c.9015C>T	c.(9013-9015)ATC>ATT	p.I3005I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3005	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AACAGCCCATCAAACTGAACA	0.388													T	186055508	C	T	186055508	2	4	272	1	0	0	0	0	0	0	0	1	7220	816	29	4		4	HMCN1	1	186055508	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3133270	186055508	63195113	158	135269											
GLRX2	51022	broad.mit.edu	37	chr1	193066740	193066740	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcaccagtcattttgtaaaGagcatcttggaactggtttc	8	8	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:193066740G>T	uc001gsz.1	-	3	378	c.334C>A	c.(334-336)CTT>ATT	p.L112I	GLRX2_uc001gta.1_Missense_Mutation_p.L113I	NM_197962	NP_932066	Q9NS18	GLRX2_HUMAN	glutaredoxin 2 isoform 2	112	Glutaredoxin.				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				0					Glutathione(DB00143)	ATTTTGTAAAGAGCATCTTGG	0.393													T	193066740	G	T	193066740	3	4	272	1	0	0	0	0	1	0	0	0	6460	942	33	5	168	5	GLRX2	1	193066740	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7011232	193066740	56183881	159	135270											
ASPM	259266	broad.mit.edu	37	chr1	197099130	197099130	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgattcagaataaacatAgccaaccctgtgacatcact	7	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:197099130A>G	uc001gtu.2	-	8	2801	c.2544T>C	c.(2542-2544)GCT>GCC	p.A848A	ASPM_uc001gtv.2_Silent_p.A848A|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	848					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GAATAAACATAGCCAACCCTG	0.343													G	197099130	A	G	197099130	2	3	272	1	0	0	0	0	0	0	0	1	1056	407	15	3		3	ASPM	1	197099130	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4032390	197099130	52151491	160	135271											
KIF21B	23046	broad.mit.edu	37	chr1	200969527	200969527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccactcacctcttcctcCgctgcctgacctccttcttc	3	21	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:200969527C>T	uc001gvs.1	-	11	1993	c.1676G>A	c.(1675-1677)CGG>CAG	p.R559Q	KIF21B_uc001gvr.1_Missense_Mutation_p.R559Q|KIF21B_uc009wzl.1_Missense_Mutation_p.R559Q|KIF21B_uc010ppn.1_Missense_Mutation_p.R559Q	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	559	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CCTCTTCCTCCGCTGCCTGAC	0.667													T	200969527	C	T	200969527	3	4	272	1	0	0	0	0	1	0	0	0	8289	652	23	1	3294	1	KIF21B	1	200969527	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3870397	200969527	48281094	161	135272											
CACNA1S	779	broad.mit.edu	37	chr1	201022613	201022613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttgatgaacgtccacaGgagggttcgcactccttctg	12	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201022613G>A	uc001gvv.2	-	30	3996	c.3769C>T	c.(3769-3771)CTG>TTG	p.L1257L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1257	Cytoplasmic (Potential).|IV.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AACGTCCACAGGAGGGTTCGC	0.617													A	201022613	G	A	201022613	2	1	272	1	0	0	0	0	0	0	0	1	2547	991	35	4		4	CACNA1S	1	201022613	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	53086	201022613	48228008	162	135273											
IGFN1	91156	broad.mit.edu	37	chr1	201196200	201196200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggaaggaaaccccgcGgtgtacagcactgacctgct	12	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201196200G>A	uc001gwc.2	+	12	3229	c.2457G>A	c.(2455-2457)GCG>GCA	p.A819A	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GAAACCCCGCGGTGTACAGCA	0.657													A	201196200	G	A	201196200	2	1	272	1	0	0	0	0	0	0	0	1	7590	1103	39	1		1	IGFN1	1	201196200	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	173587	201196200	48054421	163	135274											
NAV1	89796	broad.mit.edu	37	chr1	201618271	201618272	+	Frame_Shift_Ins	INS	-	-	C													cccggcgggcggcgccaagaINScccccctggctccgctcgcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201618271_201618272insC	uc001gwu.2	+	1	822_823	c.475_476insC	c.(475-477)ACCfs	p.T159fs		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	159					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CGGCGCCAAGACCCCCCTGGCT	0.698													C	201618272	-	C	201618271	7	5	272	1	0	1	1	0	0	0	0	0	10183	275	10	0	477	0	NAV1	1	201618271	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	422071	201618271	47632350	164	135275	698	2									
NAV1	89796	broad.mit.edu	37	chr1	201618272	201618273	+	Frame_Shift_Ins	INS	-	-	C													ccggcgggcggcgccaagacINSccccctggctccgctcgcgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201618271_201618272A>AC	uc021phi.1	+	0	822_823	c.475_476A>AC	c.(475-477)accfs	p.T159fs	NAV1_uc001gwu.3_Frame_Shift_Ins_p.T159fs	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	159					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						CGGCGCCAAGACCCCCCTGGCT	0.698													C	201618273	-	C	201618272	7	5	272	1	0	1	1	0	0	0	0	0	10183	507	18	0	478	0	NAV1	1	201618272	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	201618272	47632349	165	135276	698	2									
PPFIA4	8497	broad.mit.edu	37	chr1	203008345	203008345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgggaccagctccagcGccaccttaactccgccctcc	9	20	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:203008345G>A	uc009xaj.2	+	6	650	c.650G>A	c.(649-651)CGC>CAC	p.R217H				O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:Variant_position_missing_in_O75335_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CAGCTCCAGCGCCACCTTAAC	0.637											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	203008345	G	A	203008345	3	1	272	1	0	0	0	0	1	0	0	0	12312	1102	38	1		1	PPFIA4	1	203008345	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1390073	203008345	46242276	166	135277											
LRRN2	10446	broad.mit.edu	37	chr1	204588727	204588727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagctgtggtcctccaGccgggtcagctggttctcct	12	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:204588727G>A	uc001hbe.1	-	3	782	c.394C>T	c.(394-396)CTG>TTG	p.L132L	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.L132L|LRRN2_uc009xbf.1_Silent_p.L132L|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	132	LRR 3.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTCCTCCAGCCGGGTCAGC	0.607													A	204588727	G	A	204588727	2	1	272	1	0	0	0	0	0	0	0	1	9035	962	34	2		2	LRRN2	1	204588727	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1580382	204588727	44661894	167	135278											
CNTN2	6900	broad.mit.edu	37	chr1	205039135	205039135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatccgcagctacaacCgccgcggggatgggcccgag	14	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:205039135C>T	uc001hbr.2	+	18	2646	c.2377C>T	c.(2377-2379)CGC>TGC	p.R793C	CNTN2_uc001hbq.1_Missense_Mutation_p.R684C|CNTN2_uc001hbs.2_Missense_Mutation_p.R581C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	793	Fibronectin type-III 2.				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			ovary(1)	1	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)			CAGCTACAACCGCCGCGGGGA	0.667													T	205039135	C	T	205039135	3	4	272	1	0	0	0	0	1	0	0	0	3641	652	23	1	2443	1	CNTN2	1	205039135	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	450408	205039135	44211486	168	135279											
AVPR1B	553	broad.mit.edu	37	chr1	206224496	206224496	+	Frame_Shift_Del	DEL	C	C	-													ccctcggggcaccctctctgCccccaatgccacaacaccct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:206224496delC	uc001hds.2	+	1	214	c.56delC	c.(55-57)GCCfs	p.A19fs		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	19	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCCTCTCTGCCCCCAATGCC	0.652													-	206224496	C	-	206224496	7	5	272	1	0	1	0	1	0	0	0	0	1232	739	26	0	58	0	AVPR1B	1	206224496	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1185361	206224496	43026125	169	135280											
AVPR1B	553	broad.mit.edu	37	chr1	206224692	206224692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacagacctggccgtggcGctcttccaggtgctgccaca	12	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:206224692G>A	uc001hds.2	+	1	410	c.252G>A	c.(250-252)GCG>GCA	p.A84A		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	84	Helical; Name=2; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCCGTGGCGCTCTTCCAGG	0.662													A	206224692	G	A	206224692	2	1	272	1	0	0	0	0	0	0	0	1	1232	1074	38	1		1	AVPR1B	1	206224692	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	196	206224692	43025929	170	135281											
RASSF5	83593	broad.mit.edu	37	chr1	206757885	206757885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctacctgcccctagatgCcatcaagcagctgcacatca	6	16	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:206757885C>T	uc001hed.2	+	4	914	c.857C>T	c.(856-858)GCC>GTC	p.A286V	RASSF5_uc001hec.1_Missense_Mutation_p.A286V|RASSF5_uc001hee.2_Missense_Mutation_p.A286V|RASSF5_uc001hef.2_Missense_Mutation_p.A133V|RASSF5_uc001heg.1_Missense_Mutation_p.A59V	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	286	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCCTAGATGCCATCAAGCAG	0.572													T	206757885	C	T	206757885	3	4	272	1	0	0	0	0	1	0	0	0	13089	739	26	2	995	2	RASSF5	1	206757885	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	533193	206757885	42492736	171	135282											
PLXNA2	5362	broad.mit.edu	37	chr1	208225682	208225682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatctcacccgtagaactCgcaggtctggttgcccaggt	10	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:208225682C>T	uc001hgz.2	-	15	3741	c.2983G>A	c.(2983-2985)GAG>AAG	p.E995K		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	995	Extracellular (Potential).|IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGTAGAACTCGCAGGTCTGG	0.547													T	208225682	C	T	208225682	3	4	272	1	0	0	0	0	1	0	0	0	12120	893	31	1	2773	1	PLXNA2	1	208225682	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1467797	208225682	41024939	172	135283											
LAMB3	3914	broad.mit.edu	37	chr1	209806438	209806438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattttttgactttgagttGctggaatcccagacactaaa	8	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:209806438G>A	uc001hhg.2	-	6	995	c.605C>T	c.(604-606)GCA>GTA	p.A202V	LAMB3_uc009xco.2_Missense_Mutation_p.A202V|LAMB3_uc001hhh.2_Missense_Mutation_p.A202V|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.A138V	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	202	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACTTTGAGTTGCTGGAATCCC	0.453													A	209806438	G	A	209806438	3	1	272	1	0	0	0	0	1	0	0	0	8612	1319	46	2	2981	2	LAMB3	1	209806438	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1580756	209806438	39444183	173	135284											
G0S2	50486	broad.mit.edu	37	chr1	209849053	209849053	+	Frame_Shift_Del	DEL	C	C	-													gaaacggtccaggagctgatCcccctggccaaggagatgat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:209849053delC	uc001hhi.3	+	2	281	c.24delC	c.(22-24)ATCfs	p.I8fs		NM_015714	NP_056529	P27469	G0S2_HUMAN	G0/G1switch 2	8					cell cycle						0				OV - Ovarian serous cystadenocarcinoma(81;0.041)		AGGAGCTGATCCCCCTGGCCA	0.642													-	209849053	C	-	209849053	7	5	272	1	0	1	0	1	0	0	0	0	6139	845	30	0	26	0	G0S2	1	209849053	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	42615	209849053	39401568	174	135285											
C1orf107	27042	broad.mit.edu	37	chr1	210012437	210012437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgaggattatgaagccGtatttgtgggcaatattgat	13	5	0	3	rs41275346	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:210012437G>A	uc001hhr.1	+	7	1322	c.1246G>A	c.(1246-1248)GTA>ATA	p.V416I	C1orf107_uc009xcu.1_Missense_Mutation_p.V131I	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	416					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TTATGAAGCCGTATTTGTGGG	0.433													A	210012437	G	A	210012437	3	1	272	1	0	0	0	0	1	0	0	0	1981	1145	40	1	1272	1	C1orf107	1	210012437	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	163384	210012437	39238184	175	135286											
SERTAD4	56256	broad.mit.edu	37	chr1	210415016	210415016	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtccttataaacaatttGatgaaaaggatccatggaga	8	6	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:210415016G>A	uc001hhy.2	+	4	584	c.405G>A	c.(403-405)TTG>TTA	p.L135L	SERTAD4_uc009xcw.2_Silent_p.L135L	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	135	SERTA.						protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TAAACAATTTGATGAAAAGGA	0.423													A	210415016	G	A	210415016	2	1	272	1	0	0	0	0	0	0	0	1	14123	1281	45	4		4	SERTAD4	1	210415016	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	402579	210415016	38835605	176	135287											
KCNH1	3756	broad.mit.edu	37	chr1	210857061	210857061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagtcctcactcttcccGcaagcatctttgaagcgggc	8	15	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:210857061G>A	uc001hib.2	-	11	2702	c.2532C>T	c.(2530-2532)TGC>TGT	p.C844C	KCNH1_uc001hic.2_Silent_p.C817C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	844	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACTCTTCCCGCAAGCATCTT	0.612													A	210857061	G	A	210857061	2	1	272	1	0	0	0	0	0	0	0	1	8031	1079	38	1		1	KCNH1	1	210857061	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	442045	210857061	38393560	177	135288											
RCOR3	55758	broad.mit.edu	37	chr1	211451507	211451507	+	Frame_Shift_Del	DEL	A	A	-													taaaatattactattcttggAaaaaaactcgctctaggaca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:211451507delA	uc001hig.2	+	5	560	c.391delA	c.(391-393)AAAfs	p.K131fs	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Frame_Shift_Del_p.K189fs|RCOR3_uc010psw.1_Frame_Shift_Del_p.K189fs|RCOR3_uc001hif.2_Frame_Shift_Del_p.K189fs	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	131	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CTATTCTTGGAAAAAAACTCG	0.338													-	211451507	A	-	211451507	7	5	272	1	0	1	0	1	0	0	0	0	13184	247	9	0	587	0	RCOR3	1	211451507	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	594446	211451507	37799114	178	135289											
SMYD2	56950	broad.mit.edu	37	chr1	214488155	214488156	+	Frame_Shift_Ins	INS	-	-	G													gttctcccatggttgtttttINSggggaaaactggaatccctc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:214488155_214488156insG	uc010ptx.1	+	3	321_322	c.288_289insG	c.(286-291)TTTGGGfs	p.F96fs	SMYD2_uc009xdj.2_Frame_Shift_Ins_p.F4fs|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	96_97					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGGTTGTTTTTGGGGAAAACTG	0.396													G	214488156	-	G	214488155	7	5	272	1	0	1	1	0	0	0	0	0	14822	1809	63	0	298	0	SMYD2	1	214488155	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	3036648	214488155	34762466	179	135290	699	2									
SMYD2	56950	broad.mit.edu	37	chr1	214488156	214488157	+	Frame_Shift_Ins	INS	-	-	G													ttctcccatggttgtttttgINSgggaaaactggaatccctcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:214488155_214488156T>TG	uc021pix.1	+	2	321_322	c.288_289T>TG	c.(286-291)tttgggfs	p.F96fs	SMYD2_uc021piw.1_Frame_Shift_Ins_p.F4fs|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	96					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGGTTGTTTTTGGGGAAAACTG	0.396													G	214488157	-	G	214488156	7	5	272	1	0	1	1	0	0	0	0	0	14822	1348	47	0	299	0	SMYD2	1	214488156	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	214488156	34762465	180	135291	699	2									
KCTD3	51133	broad.mit.edu	37	chr1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-													ctactccatctcctcggcatAaaaaaagtgattcttcaggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:215793921_215793921TA>T	uc001hks.3	+	17	2703	c.2409_2409TA>T	c.(2407-2409)catfs	p.H803fs	KCTD3_uc001hkt.3_Frame_Shift_Del_p.H801fs|KCTD3_uc010pub.2_Frame_Shift_Del_p.H701fs|KCTD3_uc009xdn.3_Frame_Shift_Del_p.H527fs	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	803				H -> HK (in Ref. 5; CAD38743).		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)		CTCCTCGGCATAAAAAAAGTG	0.418													-	215793922	A	-	215793922	7	5	272	1	0	1	0	1	0	0	0	0	8110	363	13	0	2480	0	KCTD3	1	215793922	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1305766	215793922	33456699	181	135292											
GPATCH2	55105	broad.mit.edu	37	chr1	217793264	217793265	+	Frame_Shift_Ins	INS	-	-	T													ctgattattttcaactttctINSttttttgactttgttcttgg					rs3210309		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:217793263_217793264C>CT	uc001hlf.1	-	1	730_731	c.634_635G>AG	c.(634-636)agafs	p.R212fs	GPATCH2_uc001hlg.4_Frame_Shift_Ins_p.R212fs	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	212						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)		TTTCAACTTTCTTTTTTTGACT	0.396													T	217793265	-	T	217793264	7	5	272	1	0	1	1	0	0	0	0	0	6591	1617	56	0	988	0	GPATCH2	1	217793264	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1999342	217793264	31457357	182	135293											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220338127	220338127	+	Frame_Shift_Del	DEL	A	A	-													aagtgttctattgacctaacAaaaaaacgtgcttccttaca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:220338127delA	uc010puk.1	-	27	3266	c.3102delT	c.(3100-3102)TTTfs	p.F1034fs	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Frame_Shift_Del_p.F614fs|RAB3GAP2_uc001hmh.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1034					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TTGACCTAACAAAAAAACGTG	0.313													-	220338127	A	-	220338127	7	5	272	1	0	1	0	1	0	0	0	0	12936	127	5	0	1115	0	RAB3GAP2	1	220338127	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2544863	220338127	28912494	183	135294											
HHIPL2	79802	broad.mit.edu	37	chr1	222713622	222713622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgaggggactcggtaccGcttgccatgtgagcctgccc	14	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:222713622G>A	uc001hnh.1	-	4	1238	c.1180C>T	c.(1180-1182)CGG>TGG	p.R394W		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	394					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		ACTCGGTACCGCTTGCCATGT	0.527													A	222713622	G	A	222713622	3	1	272	1	0	0	0	0	1	0	0	0	7094	1086	38	1	1018	1	HHIPL2	1	222713622	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2375495	222713622	26536999	184	135295											
DISP1	84976	broad.mit.edu	37	chr1	223175814	223175814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacactgggaaactacatcGccattctgaacaatagatcg	9	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:223175814G>A	uc001hnu.1	+	8	1222	c.1075G>A	c.(1075-1077)GCC>ACC	p.A359T		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	359					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		AAACTACATCGCCATTCTGAA	0.498											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	223175814	G	A	223175814	3	1	272	1	0	0	0	0	1	0	0	0	4539	1087	38	1	1101	1	DISP1	1	223175814	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	462192	223175814	26074807	185	135296											
DISP1	84976	broad.mit.edu	37	chr1	223177193	223177193	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagatagcagttttaacatCgccagcccagcttcccaggc	8	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:223177193C>T	uc001hnu.1	+	8	2601	c.2454C>T	c.(2452-2454)ATC>ATT	p.I818I		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	818					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		GTTTTAACATCGCCAGCCCAG	0.468													T	223177193	C	T	223177193	2	4	272	1	0	0	0	0	0	0	0	1	4539	874	31	1		1	DISP1	1	223177193	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1379	223177193	26073428	186	135297											
DISP1	84976	broad.mit.edu	37	chr1	223178573	223178573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgcccagatgcctacaaAcacttgaactatggcccaca	7	14	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:223178573A>G	uc001hnu.1	+	8	3981	c.3834A>G	c.(3832-3834)AAA>AAG	p.K1278K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1278					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		ATGCCTACAAACACTTGAACT	0.537													G	223178573	A	G	223178573	2	3	272	1	0	0	0	0	0	0	0	1	4539	40	2	3		3	DISP1	1	223178573	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1380	223178573	26072048	187	135298											
TMEM63A	9725	broad.mit.edu	37	chr1	226034752	226034752	+	Frame_Shift_Del	DEL	G	G	-													cacccagcctcaggcctcctGgggggcagcagccacactgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:226034752delG	uc001hpm.1	-	24	2663	c.2413delC	c.(2413-2415)CAGfs	p.Q805fs		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	805						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CAGGCCTCCTGGGGGGCAGCA	0.647													-	226034752	G	-	226034752	7	5	272	1	0	1	0	1	0	0	0	0	16187	1357	47	0	14	0	TMEM63A	1	226034752	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2856179	226034752	23215869	188	135299											
PARP1	142	broad.mit.edu	37	chr1	226566913	226566913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttaacgatgtccaccaGgccaagggtggcactgaaga	11	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:226566913G>T	uc001hqd.3	-	12	1846	c.1675C>A	c.(1675-1677)CTG>ATG	p.L559M		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	559					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			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATGTCCACCAGGCCAAGGGTG	0.537								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					T	226566913	G	T	226566913	3	4	272	1	0	0	0	0	1	0	0	0	11454	991	35	5	1417	5	PARP1	1	226566913	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	532161	226566913	22683708	189	135300											
GJC2	57165	broad.mit.edu	37	chr1	228346347	228346347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgggcagcgcgcaggaCgcggtgcgcggccgccgcgg	21	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228346347C>T	uc001hsk.2	+	2	1063	c.888C>T	c.(886-888)GAC>GAT	p.D296D		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	296	Cytoplasmic (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GCGCGCAGGACGCGGTGCGCG	0.552													T	228346347	C	T	228346347	2	4	272	1	0	0	0	0	0	0	0	1	6415	535	19	1		1	GJC2	1	228346347	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1779434	228346347	20904274	190	135301											
OBSCN	84033	broad.mit.edu	37	chr1	228402651	228402651	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcttggcacctacacctgGatcaggtgccacgaggctga	12	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228402651G>A	uc009xez.1	+	5	1724	c.1680G>A	c.(1678-1680)TGG>TGA	p.W560*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.W560*|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	560	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCTACACCTGGATCAGGTGCC	0.592													A	228402651	G	A	228402651	4	1	272	1	0	0	0	0	0	1	0	0	10812	1183	41	4	1694	4	OBSCN	1	228402651	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	56304	228402651	20847970	191	135302											
OBSCN	84033	broad.mit.edu	37	chr1	228403459	228403459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatccgggaggtgcccgCcagcctgcacggggcgcagc	15	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228403459C>T	uc009xez.1	+	6	2068	c.2024C>T	c.(2023-2025)GCC>GTC	p.A675V	OBSCN_uc001hsn.2_Missense_Mutation_p.A675V|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	675	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GAGGTGCCCGCCAGCCTGCAC	0.657													T	228403459	C	T	228403459	3	4	272	1	0	0	0	0	1	0	0	0	10812	739	26	2	2042	2	OBSCN	1	228403459	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	808	228403459	20847162	192	135303											
OBSCN	84033	broad.mit.edu	37	chr1	228481310	228481310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctcagccatgctcacCgtcaggggtaaaggccacat	11	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228481310C>T	uc009xez.1	+	41	11168	c.11124C>T	c.(11122-11124)ACC>ACT	p.T3708T	OBSCN_uc001hsn.2_Silent_p.T3708T|OBSCN_uc001hsq.1_Silent_p.T964T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3708	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCATGCTCACCGTCAGGGGTA	0.622													T	228481310	C	T	228481310	2	4	272	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228481310	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	77851	228481310	20769311	193	135304											
OBSCN	84033	broad.mit.edu	37	chr1	228494787	228494787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcagagctgctggtaCgcggagtggagcaggaggat	18	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228494787C>T	uc009xez.1	+	45	12156	c.12112C>T	c.(12112-12114)CGC>TGC	p.R4038C	OBSCN_uc001hsn.2_Missense_Mutation_p.R4038C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4038	Ig-like 41.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTGCTGGTACGCGGAGTGGA	0.647													T	228494787	C	T	228494787	3	4	272	1	0	0	0	0	1	0	0	0	10812	536	19	1	12286	1	OBSCN	1	228494787	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13477	228494787	20755834	194	135305											
OBSCN	84033	broad.mit.edu	37	chr1	228509323	228509323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccagcaaggcagatgtGcgagcccgctggctgaagga	17	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228509323G>A	uc009xez.1	+	55	14825	c.14781G>A	c.(14779-14781)GTG>GTA	p.V4927V	OBSCN_uc001hsn.2_Silent_p.V4927V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4927	Ig-like 48.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCAGATGTGCGAGCCCGCT	0.637													A	228509323	G	A	228509323	2	1	272	1	0	0	0	0	0	0	0	1	10812	1306	46	2		2	OBSCN	1	228509323	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	14536	228509323	20741298	195	135306											
OBSCN	84033	broad.mit.edu	37	chr1	228527676	228527676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgcagcagtgcgacacGgacgacgacgtggccatgtg	16	10	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228527676G>A	uc009xez.1	+	70	17333	c.17289G>A	c.(17287-17289)ACG>ACA	p.T5763T	OBSCN_uc001hsn.2_Silent_p.T5763T|OBSCN_uc001hsr.1_Silent_p.T392T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5763	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTGCGACACGGACGACGACG	0.627													A	228527676	G	A	228527676	2	1	272	1	0	0	0	0	0	0	0	1	10812	1103	39	1		1	OBSCN	1	228527676	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	18353	228527676	20722945	196	135307											
OBSCN	84033	broad.mit.edu	37	chr1	228558393	228558393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagaaatccatgcctgCggaggaggcccacttcatca	9	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228558393C>T	uc009xez.1	+	93	20224	c.20180C>T	c.(20179-20181)GCG>GTG	p.A6727V	OBSCN_uc001hsr.1_Missense_Mutation_p.A1356V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6727					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.A7309V(1)		stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCATGCCTGCGGAGGAGGCC	0.617													T	228558393	C	T	228558393	3	4	272	1	0	0	0	0	1	0	0	0	10812	768	27	1	21756	1	OBSCN	1	228558393	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	30717	228558393	20692228	197	135308											
OBSCN	84033	broad.mit.edu	37	chr1	228564758	228564758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccttgagcaggggccGcttcagcgtggtgcggcaat	15	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228564758G>A	uc009xez.1	+	101	23089	c.23045G>A	c.(23044-23046)CGC>CAC	p.R7682H	OBSCN_uc001hsr.1_Missense_Mutation_p.R2311H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7682	Protein kinase 2.|ATP (By similarity).				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGCAGGGGCCGCTTCAGCGTG	0.662													A	228564758	G	A	228564758	3	1	272	1	0	0	0	0	1	0	0	0	10812	1087	38	1	24653	1	OBSCN	1	228564758	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6365	228564758	20685863	198	135309											
EXOC8	149371	broad.mit.edu	37	chr1	231471747	231471747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacccagggcttctggcGtcatcaagttcatcctcctc	8	15	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:231471747G>A	uc001huq.2	-	1	1832	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	582					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGCTTCTGGCGTCATCAAGTT	0.458													A	231471747	G	A	231471747	3	1	272	1	0	0	0	0	1	0	0	0	5311	1145	40	1	436	1	EXOC8	1	231471747	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2906989	231471747	17778874	199	135310											
SIPA1L2	57568	broad.mit.edu	37	chr1	232577521	232577521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttccttattacccgggtgCctgcttgcttccatggtgtc	10	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:232577521C>A	uc001hvg.2	-	11	3689	c.3531G>T	c.(3529-3531)AGG>AGT	p.R1177S	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R251S	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1177					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACCCGGGTGCCTGCTTGCTT	0.552													A	232577521	C	A	232577521	3	1	272	1	0	0	0	0	1	0	0	0	14330	738	26	5	1681	5	SIPA1L2	1	232577521	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1105774	232577521	16673100	200	135311											
PCNXL2	80003	broad.mit.edu	37	chr1	233397867	233397867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggaggcgtggagaggtttCgactggcctcttcctttttg	16	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:233397867C>T	uc001hvl.2	-	3	639	c.404G>A	c.(403-405)CGA>CAA	p.R135Q	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	135						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAGAGGTTTCGACTGGCCTC	0.483													T	233397867	C	T	233397867	3	4	272	1	0	0	0	0	1	0	0	0	11592	884	31	1	6137	1	PCNXL2	1	233397867	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	820346	233397867	15852754	201	135312											
RBM34	23029	broad.mit.edu	37	chr1	235323947	235323948	+	Frame_Shift_Ins	INS	-	-	T													tcctcctcattccgtttcgtINSttttttgatggtttgctttt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:235323946_235323947G>GT	uc001hwn.3	-	2	475_476	c.244_245C>AC	c.(244-246)acgfs	p.T82fs	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Frame_Shift_Ins_p.T82fs	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	82						nucleolus	RNA binding|nucleotide 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)			ATTCCGTTTCGTTTTTTTGATG	0.371													T	235323948	-	T	235323947	7	5	272	1	0	1	1	0	0	0	0	0	13131	1725	60	0	1105	0	RBM34	1	235323947	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1926080	235323947	13926674	202	135313											
NID1	4811	broad.mit.edu	37	chr1	236180456	236180456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaacttacccacacacGttccctcatctgaaaactgg	7	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236180456G>A	uc001hxo.2	-	10	2348	c.2246C>T	c.(2245-2247)ACG>ATG	p.T749M	NID1_uc009xgd.2_Intron	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	749	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	ACCCACACACGTTCCCTCATC	0.483													A	236180456	G	A	236180456	3	1	272	1	0	0	0	0	1	0	0	0	10414	1145	40	1	1541	1	NID1	1	236180456	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	856509	236180456	13070165	203	135314											
NID1	4811	broad.mit.edu	37	chr1	236192939	236192939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcggccctccagctccGtgtcgatggtcaggtgccca	13	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236192939G>A	uc001hxo.2	-	7	1751	c.1649C>T	c.(1648-1650)ACG>ATG	p.T550M	NID1_uc009xgd.2_Missense_Mutation_p.T550M	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	550	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	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)	CTCCAGCTCCGTGTCGATGGT	0.632													A	236192939	G	A	236192939	3	1	272	1	0	0	0	0	1	0	0	0	10414	1145	40	1	2150	1	NID1	1	236192939	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	12483	236192939	13057682	204	135315											
HEATR1	55127	broad.mit.edu	37	chr1	236749163	236749163	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcctaaatttatattatcaGccaacaactcaatcatcttc	1	12	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236749163G>C	uc001hyd.1	-	16	2131	c.2006C>G	c.(2005-2007)GCT>GGT	p.A669G	HEATR1_uc009xgh.1_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	669					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TATATTATCAGCCAACAACTC	0.333													C	236749163	G	C	236749163	3	2	272	1	0	0	0	0	1	0	0	0	7027	971	34	5	4548	5	HEATR1	1	236749163	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	556224	236749163	12501458	205	135316											
HEATR1	55127	broad.mit.edu	37	chr1	236761267	236761267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagttcctttagctaacgGcactccagattgctgttatt	7	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236761267G>A	uc001hyd.1	-	5	639	c.514C>T	c.(514-516)CCG>TCG	p.P172S		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	172					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTAGCTAACGGCACTCCAGAT	0.373													A	236761267	G	A	236761267	3	1	272	1	0	0	0	0	1	0	0	0	7027	1203	42	2	6084	2	HEATR1	1	236761267	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	12104	236761267	12489354	206	135317											
RYR2	6262	broad.mit.edu	37	chr1	237580390	237580390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtgtctgttcatgcacGttccctttggagactagaga	11	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:237580390G>A	uc001hyl.1	+	11	935	c.815G>A	c.(814-816)CGT>CAT	p.R272H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	272	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GTTCATGCACGTTCCCTTTGG	0.423													A	237580390	G	A	237580390	3	1	272	1	0	0	0	0	1	0	0	0	13769	1145	40	1	857	1	RYR2	1	237580390	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	819123	237580390	11670231	207	135318											
CHRM3	1131	broad.mit.edu	37	chr1	240071340	240071340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctggcttgggtcatctccTttgtcctttgggctcctgcc	11	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:240071340T>C	uc001hyp.2	+	5	1368	c.589T>C	c.(589-591)TTT>CTT	p.F197L		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	197	Helical; Name=4; (By similarity).				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			ovary(4)|skin(1)	5	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)	GGTCATCTCCTTTGTCCTTTG	0.517													C	240071340	T	C	240071340	3	2	272	1	0	0	0	0	1	0	0	0	3378	1609	56	3	591	3	CHRM3	1	240071340	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2490950	240071340	9179281	208	135319											
FMN2	56776	broad.mit.edu	37	chr1	240370881	240370881	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgggcatacctcctccGccgcctctacccggagcagg	13	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:240370881G>T	uc010pyd.1	+	5	2994	c.2769G>T	c.(2767-2769)CCG>CCT	p.P923P	FMN2_uc010pye.1_Silent_p.P927P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	923	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCTCCTCCGCCGCCTCTAC	0.672													T	240370881	G	T	240370881	2	4	272	1	0	0	0	0	0	0	0	1	5950	1074	38	5		5	FMN2	1	240370881	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	299541	240370881	8879740	209	135320											
FMN2	56776	broad.mit.edu	37	chr1	240371493	240371493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccctctacccggagcGggcataccccctcctccccc	6	25	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:240371493G>A	uc010pyd.1	+	5	3606	c.3381G>A	c.(3379-3381)GCG>GCA	p.A1127A	FMN2_uc010pye.1_Silent_p.A1131A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1127	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.721													A	240371493	G	A	240371493	2	1	272	1	0	0	0	0	0	0	0	1	5950	1103	39	1		1	FMN2	1	240371493	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	612	240371493	8879128	210	135321											
HNRNPU	3192	broad.mit.edu	37	chr1	245025801	245025803	+	In_Frame_Del	DEL	TCT	TCT	-													ctgtgtcatcgaagtgttcaTcttcttcttcaacaggtggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245025800_245025802ATCT>A	uc001iaz.1	-	2	1056_1058	c.838_840AGAT>T	c.(838-840)gat>T	p.D280del	HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_In_Frame_Del_p.D261del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	280	B30.2/SPRY.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein 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)			CGAAGTGTTCATCTTCTTCTTCA	0.394													-	245025803	TCT	-	245025801	7	5	272	1	0	1	0	1	0	0	0	0	7273	1435	50	0	1686	0	HNRNPU	1	245025801	In_Frame_Del	DEL	TCT	TCGA-HU-A4GQ-01A-11D-A25D-08	4654308	245025801	4224820	211	135322											
EFCAB2	84288	broad.mit.edu	37	chr1	245245466	245245466	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatactactagaaagaaagTaagtaagtaaatgcaattgt	7	3	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245245466T>A	uc001ibd.2	+	5	812	c.671_splice	c.e5+2	p.K224_splice	EFCAB2_uc001ibc.2_Splice_Site_p.K88_splice|EFCAB2_uc010pyo.1_Splice_Site_p.K98_splice|EFCAB2_uc010pyp.1_Splice_Site_p.K88_splice|EFCAB2_uc001ibe.2_Splice_Site	NR_026586		Q5VUJ9	EFCB2_HUMAN	RecName: Full=EF-hand calcium-binding domain-containing protein 2;								calcium ion binding				0	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AGAAAGAAAGTAAGTAAGTAA	0.343													A	245245466	T	A	245245466	5	1	272	1	0	0	0	0	0	0	1	0	4934	1652	57	5	279	5	EFCAB2	1	245245466	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	219665	245245466	4005155	212	135323											
KIF26B	55083	broad.mit.edu	37	chr1	245849907	245849908	+	Frame_Shift_Ins	INS	-	-	C													cctggacagcggccgccccaINSccagcatcatcagcttcaac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245849907_245849908insC	uc001ibf.1	+	12	4062_4063	c.3622_3623insC	c.(3622-3624)ACCfs	p.T1208fs	KIF26B_uc001ibg.1_Frame_Shift_Ins_p.T826fs|KIF26B_uc001ibh.1_Frame_Shift_Ins_p.T450fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1208					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			CGGCCGCCCCACCAGCATCATC	0.663													C	245849908	-	C	245849907	7	5	272	1	0	1	1	0	0	0	0	0	8295	159	6	0	3668	0	KIF26B	1	245849907	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	604441	245849907	3400714	213	135324	700	2									
KIF26B	55083	broad.mit.edu	37	chr1	245849908	245849909	+	Frame_Shift_Ins	INS	-	-	C													ctggacagcggccgccccacINScagcatcatcagcttcaaca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245849907_245849908A>AC	uc001ibf.1	+	11	4062_4063	c.3622_3623A>AC	c.(3622-3624)accfs	p.T1208fs	KIF26B_uc001ibg.1_Frame_Shift_Ins_p.T826fs|KIF26B_uc001ibh.1_Frame_Shift_Ins_p.T450fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1208					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)			CGGCCGCCCCACCAGCATCATC	0.663													C	245849909	-	C	245849908	7	5	272	1	0	1	1	0	0	0	0	0	8295	507	18	0	3669	0	KIF26B	1	245849908	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	245849908	3400713	214	135325	700	2									
TFB2M	64216	broad.mit.edu	37	chr1	246707850	246707850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctattacagtggcgctgCgcctcccaaaacagtgcttt	10	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:246707850C>T	uc001ibn.2	-	7	1117	c.992G>A	c.(991-993)CGC>CAC	p.R331H		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	331					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	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)			AGTGGCGCTGCGCCTCCCAAA	0.333													T	246707850	C	T	246707850	3	4	272	1	0	0	0	0	1	0	0	0	15791	768	27	1	206	1	TFB2M	1	246707850	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	857942	246707850	2542771	215	135326											
NLRP3	114548	broad.mit.edu	37	chr1	247607387	247607387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacactctcggagacaaggGgatcaaactactctgtgagg	11	10	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:247607387G>A	uc001icr.2	+	9	2921	c.2783G>A	c.(2782-2784)GGG>GAG	p.G928E	NLRP3_uc001ics.2_Missense_Mutation_p.G871E|NLRP3_uc001icu.2_Missense_Mutation_p.G928E|NLRP3_uc001icw.2_Missense_Mutation_p.G871E|NLRP3_uc001icv.2_Missense_Mutation_p.G814E|NLRP3_uc010pyw.1_Missense_Mutation_p.G906E	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	928	LRR 7.				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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			GGAGACAAGGGGATCAAACTA	0.502													A	247607387	G	A	247607387	3	1	272	1	0	0	0	0	1	0	0	0	10478	1232	43	4	2809	4	NLRP3	1	247607387	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	899537	247607387	1643234	216	135327											
OR2T8	343172	broad.mit.edu	37	chr1	248084484	248084484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccaccggctccacacGcccatgtacttcctcctgag	9	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:248084484G>A	uc010pzc.1	+	1	165	c.165G>A	c.(163-165)ACG>ACA	p.T55T		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522													A	248084484	G	A	248084484	2	1	272	1	0	0	0	0	0	0	0	1	11030	1074	38	1		1	OR2T8	1	248084484	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	477097	248084484	1166137	217	135328											
OR2AK2	391191	broad.mit.edu	37	chr1	248129580	248129580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggaagtgacgggggcagTgaggagactgttgggatatt	18	3	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:248129580T>C	uc010pzd.1	+	1	947	c.947T>C	c.(946-948)GTG>GCG	p.V316A	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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)			ACGGGGGCAGTGAGGAGACTG	0.418													C	248129580	T	C	248129580	3	2	272	1	0	0	0	0	1	0	0	0	10986	1696	59	3	949	3	OR2AK2	1	248129580	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	45096	248129580	1121041	218	135329											
OR2M3	127062	broad.mit.edu	37	chr1	248366979	248366979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattcttttcatctgctgtAtagtaatgattgttttccct	6	7	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:248366979A>G	uc010pzg.1	+	1	610	c.610A>G	c.(610-612)ATA>GTA	p.I204V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			CATCTGCTGTATAGTAATGAT	0.443													G	248366979	A	G	248366979	3	3	272	1	0	0	0	0	1	0	0	0	11011	449	16	3	612	3	OR2M3	1	248366979	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	237399	248366979	883642	219	135330											
ZNF692	55657	broad.mit.edu	37	chr1	249144569	249144569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgggtgacttttgctaCggtgggctgcaacactgtct	15	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:249144569C>T	uc001ifc.1	-	12	1567	c.1400G>A	c.(1399-1401)CGT>CAT	p.R467H	ZNF692_uc001iez.1_Missense_Mutation_p.R189H|ZNF692_uc001ifa.1_Missense_Mutation_p.R189H|ZNF692_uc001ifb.1_Missense_Mutation_p.R263H|ZNF692_uc001ifd.1_Missense_Mutation_p.R466H|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.R422H|ZNF692_uc010pzr.1_Missense_Mutation_p.R472H	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	467	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			ACTTTTGCTACGGTGGGCTGC	0.617													T	249144569	C	T	249144569	3	4	272	1	0	0	0	0	1	0	0	0	18094	536	19	1	163	1	ZNF692	1	249144569	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	777590	249144569	106052	220	135331											
TMEM18	129787	broad.mit.edu	37	chr2	677290	677290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgcgggccgcgagttaccGtgagcacggctgggatgctg	17	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:677290G>A	uc002qwl.2	-	1	150	c.56C>T	c.(55-57)ACG>ATG	p.T19M	TMEM18_uc002qwk.2_5'Flank|uc002qwm.1_RNA	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	19					cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GCGAGTTACCGTGAGCACGGC	0.682													A	677290	G	A	677290	3	1	272	1	0	0	0	0	1	0	0	0	16095	1159	40	1	386	1	TMEM18	2	677290	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08		677290	242522083	221	135332											
TPO	7173	broad.mit.edu	37	chr2	1491596	1491596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatggtattttccaggtgGtttggacccactaatacgag	11	8	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:1491596G>A	uc002qww.2	+	10	1692	c.1601G>A	c.(1600-1602)GGT>GAT	p.G534D	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Missense_Mutation_p.G534D|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Missense_Mutation_p.G361D|TPO_uc010yip.1_Missense_Mutation_p.G534D|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	534	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	TTTCCAGGTGGTTTGGACCCA	0.423													A	1491596	G	A	1491596	3	1	272	1	0	0	0	0	1	0	0	0	16407	1261	44	4	1635	4	TPO	2	1491596	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	814306	1491596	241707777	222	135333											
PXDN	7837	broad.mit.edu	37	chr2	1670073	1670073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgctgtccccctgtacgaCgttctgtatgtaaagcccgc	9	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:1670073C>T	uc002qxa.2	-	10	1268	c.1204G>A	c.(1204-1206)GTC>ATC	p.V402I	PXDN_uc002qxb.1_Missense_Mutation_p.V402I|PXDN_uc002qxc.1_Missense_Mutation_p.V219I	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	402	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	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)		CCCTGTACGACGTTCTGTATG	0.607													T	1670073	C	T	1670073	3	4	272	1	0	0	0	0	1	0	0	0	12847	536	19	1	3291	1	PXDN	2	1670073	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	178477	1670073	241529300	223	135334											
ASAP2	8853	broad.mit.edu	37	chr2	9528643	9528644	+	Frame_Shift_Ins	INS	-	-	CC													gcccccagcaccaccagcgcINSccccccgcttcctccacgga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:9528642_9528643G>GCC	uc002qzh.2	+	21	2690_2691	c.2350_2351G>GCC	c.(2350-2352)gccfs	p.A784fs	ASAP2_uc002qzi.2_Frame_Shift_Ins_p.A784fs	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	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						CACCACCAGCGCCCCCCCGCTT	0.579													CC	9528644	-	CC	9528643	7	5	272	1	0	1	1	0	0	0	0	0	1011	739	26	0	2437	0	ASAP2	2	9528643	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	7858570	9528643	233670730	224	135335											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10918761	10918761	+	Frame_Shift_Del	DEL	A	A	-													tcattgcctggatccacatcAaggccctgagagtgtttgtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:10918760_10918760CA>C	uc002ras.3	+	11	1135	c.1026_1026CA>C	c.(1024-1026)atcfs	p.I342fs	ATP6V1C2_uc002rat.3_Frame_Shift_Del_p.I296fs	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	342					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGATCCACATCAAGGCCCTGA	0.607													-	10918761	A	-	10918761	7	5	272	1	0	1	0	1	0	0	0	0	1181	131	5	0	1069	0	ATP6V1C2	2	10918761	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1390118	10918761	232280612	225	135336											
ROCK2	9475	broad.mit.edu	37	chr2	11351916	11351916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttgttctaggctctgCtgtataacttttagttggta	8	7	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:11351916C>T	uc002rbd.1	-	18	2543	c.2094G>A	c.(2092-2094)CAG>CAA	p.Q698Q		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	698	Potential.|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			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTAGGCTCTGCTGTATAACTT	0.353													T	11351916	C	T	11351916	2	4	272	1	0	0	0	0	0	0	0	1	13518	796	28	2		2	ROCK2	2	11351916	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	433155	11351916	231847457	226	135337											
MYCN	4613	broad.mit.edu	37	chr2	16082453	16082453	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgagaacgagctgtggggCagcccggccgaggaggacgc	18	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:16082453C>A	uc002rci.2	+	2	567	c.267C>A	c.(265-267)GGC>GGA	p.G89G	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.G81G	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	89					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	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)			AGCTGTGGGGCAGCCCGGCCG	0.716			A		neuroblastoma								A	16082453	C	A	16082453	2	1	272	1	0	0	0	0	0	0	0	1	10021	697	25	5		5	MYCN	2	16082453	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4730537	16082453	227116920	227	135338											
HS1BP3	64342	broad.mit.edu	37	chr2	20823667	20823667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtacctgaacagttcCttggaggcgtccctgtggct	14	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:20823667C>A	uc002rdw.1	-	6	950	c.909G>T	c.(907-909)AAG>AAT	p.K303N		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	303					cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACAGTTCCTTGGAGGCGT	0.672													A	20823667	C	A	20823667	3	1	272	1	0	0	0	0	1	0	0	0	7361	680	24	5	277	5	HS1BP3	2	20823667	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4741214	20823667	222375706	228	135339											
MFSD2B	388931	broad.mit.edu	37	chr2	24244545	24244545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactgcattgcggctgccGtggttgtagtgacttacccc	11	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:24244545G>A	uc002reo.1	+	7	723	c.709G>A	c.(709-711)GTG>ATG	p.V237M		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	237	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TGCGGCTGCCGTGGTTGTAGT	0.607													A	24244545	G	A	24244545	3	1	272	1	0	0	0	0	1	0	0	0	9531	1145	40	1	735	1	MFSD2B	2	24244545	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3420878	24244545	218954828	229	135340											
NCOA1	8648	broad.mit.edu	37	chr2	24881612	24881612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacataagaggaaaggatcGccatgtgacacactggcatc	10	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:24881612G>A	uc002rfk.2	+	3	324	c.66G>A	c.(64-66)TCG>TCA	p.S22S	NCOA1_uc010eye.2_Silent_p.S22S|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Silent_p.S22S|NCOA1_uc002rfl.2_Silent_p.S22S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	22	Helix-loop-helix motif.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAGGATCGCCATGTGACA	0.408			T	PAX3	alveolar rhadomyosarcoma								A	24881612	G	A	24881612	2	1	272	1	0	0	0	0	0	0	0	1	10228	1074	38	1		1	NCOA1	2	24881612	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	637067	24881612	218317761	230	135341											
KCNK3	3777	broad.mit.edu	37	chr2	26950641	26950641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttccagagcctgggcgaGcgcatcaacaccttggtgag	13	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:26950641G>A	uc002rhn.2	+	2	553	c.390G>A	c.(388-390)GAG>GAA	p.E130E		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	130	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGGCGAGCGCATCAACA	0.657													A	26950641	G	A	26950641	2	1	272	1	0	0	0	0	0	0	0	1	8067	962	34	2		2	KCNK3	2	26950641	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2069029	26950641	216248732	231	135342											
AGBL5	60509	broad.mit.edu	37	chr2	27278901	27278902	+	Frame_Shift_Ins	INS	-	-	C													agtcagcccctgataccatcINSccccccaaagagagtggcgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27278900_27278901T>TC	uc002rie.3	+	6	1476_1477	c.1259_1260T>TC	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Ins_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					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)					CCTGATACCATCCCCCCCAAAG	0.515													C	27278902	-	C	27278901	7	5	272	1	0	1	1	0	0	0	0	0	378	845	30	0	1282	0	AGBL5	2	27278901	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	328260	27278901	215920472	232	135343											
AGBL5	60509	broad.mit.edu	37	chr2	27292517	27292517	+	Frame_Shift_Del	DEL	C	C	-													ttcaggccccacatcccctaCcccccggaccagggagagca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27292516_27292516AC>A	uc002rie.3	+	13	2648	c.2431_2431AC>A	c.(2431-2433)accfs	p.T811fs	AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	811					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)					CACATCCCCTACCCCCCGGAC	0.642													-	27292517	C	-	27292517	7	5	272	1	0	1	0	1	0	0	0	0	378	507	18	0	2547	0	AGBL5	2	27292517	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13616	27292517	215906856	233	135344											
SLC5A6	8884	broad.mit.edu	37	chr2	27430161	27430161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcaggcggtagaaaaCggggatgaagatgtgtgcag	18	4	0	4	rs150524685	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27430161C>T	uc002rjd.2	-	3	749	c.358G>A	c.(358-360)GTT>ATT	p.V120I	SLC5A6_uc010eyv.1_Missense_Mutation_p.V120I|SLC5A6_uc002rje.1_Missense_Mutation_p.V120I	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	120	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CGGTAGAAAACGGGGATGAAG	0.577													T	27430161	C	T	27430161	3	4	272	1	0	0	0	0	1	0	0	0	14669	536	19	1	1609	1	SLC5A6	2	27430161	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	137644	27430161	215769212	234	135345											
C2orf28	51374	broad.mit.edu	37	chr2	27439715	27439715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgttgttcacagggcTcgttctcactgcttatgttc	10	10	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27439715T>C	uc002rjf.2	+	7	927	c.754T>C	c.(754-756)TCG>CCG	p.S252P	C2orf28_uc002rjg.2_Missense_Mutation_p.S139P|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	197	Extracellular (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACAGGGCTCGTTCTCACT	0.493													C	27439715	T	C	27439715	3	2	272	1	0	0	0	0	1	0	0	0	2160	1551	54	3	780	3	C2orf28	2	27439715	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	9554	27439715	215759658	235	135346											
CAD	790	broad.mit.edu	37	chr2	27447223	27447223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccacagttagagagcgGctgactgagcgcctctgtcc	12	13	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27447223G>A	uc002rji.2	+	9	1281	c.1119G>A	c.(1117-1119)CGG>CGA	p.R373R	CAD_uc010eyw.2_Silent_p.R373R	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	373	Linker.				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTAGAGAGCGGCTGACTGAGC	0.408													A	27447223	G	A	27447223	2	1	272	1	0	0	0	0	0	0	0	1	2565	1190	42	2		2	CAD	2	27447223	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7508	27447223	215752150	236	135347											
ZNF513	130557	broad.mit.edu	37	chr2	27600873	27600873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggacagcgggcgcagcGgaagggcttctcaccactgt	14	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27600873G>A	uc002rkk.2	-	4	1365	c.1165C>T	c.(1165-1167)CGC>TGC	p.R389C	ZNF513_uc002rkj.2_Missense_Mutation_p.R327C	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	389	C2H2-type 5.				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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGCGCAGCGGAAGGGCTTC	0.592													A	27600873	G	A	27600873	3	1	272	1	0	0	0	0	1	0	0	0	17955	1116	39	1	464	1	ZNF513	2	27600873	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	153650	27600873	215598500	237	135348											
SPDYA	245711	broad.mit.edu	37	chr2	29041919	29041919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcttttgttgtagatgacGatttaattcaagatttcttg	7	4	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:29041919G>A	uc002rmj.2	+	4	447	c.241G>A	c.(241-243)GAT>AAT	p.D81N	SPDYA_uc002rmi.2_Missense_Mutation_p.D81N|SPDYA_uc002rmk.2_Missense_Mutation_p.D81N|SPDYA_uc002rml.2_Missense_Mutation_p.D81N	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	81	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TGTAGATGACGATTTAATTCA	0.299													A	29041919	G	A	29041919	3	1	272	1	0	0	0	0	1	0	0	0	15026	1058	37	1	247	1	SPDYA	2	29041919	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1441046	29041919	214157454	238	135349											
CLIP4	79745	broad.mit.edu	37	chr2	29404681	29404681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcacctgtaagccgaaCcatggagtcttagttcgacc	8	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:29404681C>T	uc002rmv.2	+	16	2279	c.2040C>T	c.(2038-2040)AAC>AAT	p.N680N	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	680	CAP-Gly 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTAAGCCGAACCATGGAGTCT	0.448													T	29404681	C	T	29404681	2	4	272	1	0	0	0	0	0	0	0	1	3535	506	18	4		4	CLIP4	2	29404681	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	362762	29404681	213794692	239	135350											
LCLAT1	253558	broad.mit.edu	37	chr2	30863019	30863019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatgatatcactgtggCgtatcctcacaacattcctc	6	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:30863019C>T	uc002rnj.2	+	7	988	c.779C>T	c.(778-780)GCG>GTG	p.A260V	LCLAT1_uc010ymp.1_Missense_Mutation_p.A98V|LCLAT1_uc002rnl.2_Missense_Mutation_p.A222V|LCLAT1_uc010ymq.1_Missense_Mutation_p.A222V	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	260					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						ATCACTGTGGCGTATCCTCAC	0.453													T	30863019	C	T	30863019	3	4	272	1	0	0	0	0	1	0	0	0	8677	768	27	1	801	1	LCLAT1	2	30863019	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1458338	30863019	212336354	240	135351											
QPCT	25797	broad.mit.edu	37	chr2	37599550	37599550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcactctttggaggggcGgtatttccagaattacagtt	12	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:37599550G>A	uc002rqg.2	+	6	997	c.875G>A	c.(874-876)CGG>CAG	p.R292Q	QPCT_uc002rqh.2_Missense_Mutation_p.R243Q	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	292					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTGGAGGGGCGGTATTTCCAG	0.299													A	37599550	G	A	37599550	3	1	272	1	0	0	0	0	1	0	0	0	12874	1116	39	1	897	1	QPCT	2	37599550	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6736531	37599550	205599823	241	135352											
SOS1	6654	broad.mit.edu	37	chr2	39249715	39249715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcataattcttacctgcGtacatatggtacgtaagcct	7	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:39249715G>A	uc002rrk.3	-	10	1895	c.1854C>T	c.(1852-1854)TAC>TAT	p.Y618Y	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Silent_p.Y232Y|SOS1_uc002rrl.2_Silent_p.Y350Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	618	N-terminal Ras-GEF.				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			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				TCTTACCTGCGTACATATGGT	0.363									Noonan_syndrome				A	39249715	G	A	39249715	2	1	272	1	0	0	0	0	0	0	0	1	14936	1140	40	1		1	SOS1	2	39249715	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1650165	39249715	203949658	242	135353											
ABCG8	64241	broad.mit.edu	37	chr2	44078854	44078854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtgtgtggcccacgtgCgccagcacaaccagctgctc	13	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:44078854C>T	uc002rtq.2	+	4	544	c.454C>T	c.(454-456)CGC>TGC	p.R152C	ABCG8_uc010yoa.1_Missense_Mutation_p.R152C	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	152	ABC transporter.|Cytoplasmic (Potential).				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			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCCCACGTGCGCCAGCACAA	0.627													T	44078854	C	T	44078854	3	4	272	1	0	0	0	0	1	0	0	0	72	768	27	1	468	1	ABCG8	2	44078854	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4829139	44078854	199120519	243	135354											
MSH6	2956	broad.mit.edu	37	chr2	48023188	48023190	+	In_Frame_Del	DEL	GAA	GAA	-													agccctcagagccagaagagGaagaagagatggaggtggga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:48023187_48023189GGAA>G	uc002rwd.4	+	2	764_766	c.612_614GGAA>G	c.(610-615)gaggaa>gaGa	p.204_205EE>E	MSH6_uc002rwc.2_In_Frame_Del_p.204_205EE>E|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	204	Poly-Glu.				DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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)			AGCCAGAAGAGGAAGAAGAGATG	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				-	48023190	GAA	-	48023188	7	5	272	1	0	1	0	1	0	0	0	0	9874	1175	41	0	623	0	MSH6	2	48023188	In_Frame_Del	DEL	GAA	TCGA-HU-A4GQ-01A-11D-A25D-08	3944334	48023188	195176185	244	135355											
KLRAQ1	129285	broad.mit.edu	37	chr2	48687004	48687004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggttgacggtctcaccCggaagtacatggaaaccatt	11	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:48687004C>T	uc002rwm.2	+	5	672	c.487C>T	c.(487-489)CGG>TGG	p.R163W	KLRAQ1_uc002rwi.1_Missense_Mutation_p.R163W|KLRAQ1_uc002rwj.2_Missense_Mutation_p.R163W|KLRAQ1_uc002rwl.2_Missense_Mutation_p.R117W|KLRAQ1_uc002rwk.2_Missense_Mutation_p.R163W|KLRAQ1_uc010yok.1_Missense_Mutation_p.R163W	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	163	Potential.									ovary(1)	1						CGGTCTCACCCGGAAGTACAT	0.498													T	48687004	C	T	48687004	3	4	272	1	0	0	0	0	1	0	0	0	8413	643	23	1	505	1	KLRAQ1	2	48687004	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	663816	48687004	194512369	245	135356											
SPTBN1	6711	broad.mit.edu	37	chr2	54855380	54855380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaagttcgcaacagaCggggaaggtaaggatggccc	15	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:54855380C>T	uc002rxu.2	+	13	2040	c.1791C>T	c.(1789-1791)GAC>GAT	p.D597D	SPTBN1_uc002rxv.1_Silent_p.D597D|SPTBN1_uc002rxx.2_Silent_p.D584D	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	597	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			TCGCAACAGACGGGGAAGGTA	0.512													T	54855380	C	T	54855380	2	4	272	1	0	0	0	0	0	0	0	1	15118	535	19	1		1	SPTBN1	2	54855380	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6168376	54855380	188343993	246	135357											
SPTBN1	6711	broad.mit.edu	37	chr2	54895523	54895523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatccaggctatctcttcCgccatctcctctgataaaca	6	14	3	1	rs147084588		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:54895523C>T	uc002rxu.2	+	36	7161	c.6912C>T	c.(6910-6912)TCC>TCT	p.S2304S	SPTBN1_uc010you.1_Silent_p.S294S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2304	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CTATCTCTTCCGCCATCTCCT	0.577													T	54895523	C	T	54895523	2	4	272	1	0	0	0	0	0	0	0	1	15118	639	23	1		1	SPTBN1	2	54895523	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	40143	54895523	188303850	247	135358											
CCDC88A	55704	broad.mit.edu	37	chr2	55562112	55562112	+	Frame_Shift_Del	DEL	T	T	-													tctttataatgttccaattcTtttttaatttgtcttttttc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:55562112delT	uc002ryv.2	-	15	2687	c.1845delA	c.(1843-1845)AAAfs	p.K615fs	CCDC88A_uc010yoz.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.K517fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	615	Potential.				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			ovary(2)|skin(2)	4						GTTCCAATTCTTTTTTAATTT	0.254													-	55562112	T	-	55562112	7	5	272	1	0	1	0	1	0	0	0	0	2863	1606	56	0	3842	0	CCDC88A	2	55562112	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	666589	55562112	187637261	248	135359											
BCL11A	53335	broad.mit.edu	37	chr2	60773219	60773219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattggatgcttttttcatcTcgattggtgaaggggaaggt	14	4	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:60773219T>C	uc002sae.1	-	2	500	c.272A>G	c.(271-273)GAG>GGG	p.E91G	BCL11A_uc002sab.2_Missense_Mutation_p.E91G|BCL11A_uc002sac.2_Missense_Mutation_p.E91G|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Missense_Mutation_p.E91G|BCL11A_uc002saf.1_Missense_Mutation_p.E91G|BCL11A_uc010fcg.2_Missense_Mutation_p.E91G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	91	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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTTTTTCATCTCGATTGGTGA	0.468			T	IGH@	B-CLL								C	60773219	T	C	60773219	3	2	272	1	0	0	0	0	1	0	0	0	1363	1551	54	3	2353	3	BCL11A	2	60773219	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	5211107	60773219	182426154	249	135360											
PROKR1	10887	broad.mit.edu	37	chr2	68873256	68873256	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctcaccaacctgctcatCgccaacctggccatctctga	5	18	3	1	rs144978946		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:68873256C>T	uc010yqj.1	+	1	303	c.303C>T	c.(301-303)ATC>ATT	p.I101I	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	101	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						ACCTGCTCATCGCCAACCTGG	0.582													T	68873256	C	T	68873256	2	4	272	1	0	0	0	0	0	0	0	1	12552	874	31	1		1	PROKR1	2	68873256	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8100037	68873256	174326117	250	135361											
GKN2	200504	broad.mit.edu	37	chr2	69177322	69177322	+	Frame_Shift_Del	DEL	T	T	-													ggatgttaatgatggcggtaTttttttcattatcaattgtc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:69177321_69177321AT>A	uc002sfa.3	-	2	250	c.141_141AT>T	c.(139-141)aatfs	p.N47fs	GKN2_uc002sfb.4_Frame_Shift_Del_p.N47fs	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	47						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TGATGGCGGTATTTTTTTCAT	0.348													-	69177322	T	-	69177322	7	5	272	1	0	1	0	1	0	0	0	0	6425	1493	52	0	430	0	GKN2	2	69177322	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	304066	69177322	174022051	251	135362											
TIA1	7072	broad.mit.edu	37	chr2	70441502	70441502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatccttgctggttccatGcctggccatacattccatat	6	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:70441502G>A	uc002sgj.3	-	12	1230	c.1013C>T	c.(1012-1014)GCA>GTA	p.A338V	TIA1_uc002sgk.3_Missense_Mutation_p.A327V|TIA1_uc002sgl.3_RNA	NM_022173	NP_071505	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding	338					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding				0						CTGGTTCCATGCCTGGCCATA	0.388													A	70441502	G	A	70441502	3	1	272	1	0	0	0	0	1	0	0	0	15884	1319	46	2	155	2	TIA1	2	70441502	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1264180	70441502	172757871	252	135363											
ANKRD53	79998	broad.mit.edu	37	chr2	71209747	71209747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaggacaagaaggacTttgcccgtgagatgacgaaa	13	6	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:71209747T>G	uc002shl.3	+	5	1024	c.823T>G	c.(823-825)TTT>GTT	p.F275V	ANKRD53_uc002shk.3_Missense_Mutation_p.F275V|ANKRD53_uc002shm.3_Missense_Mutation_p.F186V	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	275											0						CAAGAAGGACTTTGCCCGTGA	0.537													G	71209747	T	G	71209747	3	3	272	1	0	0	0	0	1	0	0	0	679	1609	56	5	841	5	ANKRD53	2	71209747	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	768245	71209747	171989626	253	135364											
DYSF	8291	broad.mit.edu	37	chr2	71839776	71839776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctccacccagatgctGcccagggaggagctctactg	10	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:71839776G>A	uc002sie.2	+	39	4549	c.4173G>A	c.(4171-4173)CTG>CTA	p.L1391L	DYSF_uc010feg.2_Silent_p.L1422L|DYSF_uc010feh.2_Silent_p.L1377L|DYSF_uc002sig.3_Silent_p.L1377L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L1391L|DYSF_uc010fef.2_Silent_p.L1408L|DYSF_uc010fei.2_Silent_p.L1408L|DYSF_uc010fek.2_Silent_p.L1409L|DYSF_uc010fej.2_Silent_p.L1378L|DYSF_uc010fel.2_Silent_p.L1378L|DYSF_uc010feo.2_Silent_p.L1423L|DYSF_uc010fem.2_Silent_p.L1392L|DYSF_uc010fen.2_Silent_p.L1409L|DYSF_uc002sif.2_Silent_p.L1392L|DYSF_uc010yqy.1_Silent_p.L272L|DYSF_uc010yqz.1_Silent_p.L131L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1391	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCCAGATGCTGCCCAGGGAGG	0.597													A	71839776	G	A	71839776	2	1	272	1	0	0	0	0	0	0	0	1	4859	1306	46	2		2	DYSF	2	71839776	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	630029	71839776	171359597	254	135365											
EMX1	2016	broad.mit.edu	37	chr2	73145444	73145444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgcccagcaccgggacCctctccatttctacccctgg	9	19	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73145444C>A	uc002sin.1	+	1	841	c.463C>A	c.(463-465)CCT>ACT	p.P155T	EMX1_uc002sim.1_Intron	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCACCGGGACCCTCTCCATTT	0.607													A	73145444	C	A	73145444	3	1	272	1	0	0	0	0	1	0	0	0	5107	623	22	5	465	5	EMX1	2	73145444	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1305668	73145444	170053929	255	135366											
EMX1	2016	broad.mit.edu	37	chr2	73151504	73151504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaagcccaagcggatccGcacggccttctcgccctcgc	10	19	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73151504G>A	uc002sin.1	+	2	965	c.587G>A	c.(586-588)CGC>CAC	p.R196H	EMX1_uc002sim.1_Silent_p.P148P	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	163	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGCGGATCCGCACGGCCTTC	0.721													A	73151504	G	A	73151504	3	1	272	1	0	0	0	0	1	0	0	0	5107	1087	38	1	593	1	EMX1	2	73151504	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6060	73151504	170047869	256	135367											
ALMS1	7840	broad.mit.edu	37	chr2	73761965	73761965	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttaggccagcctttattaTtgccatataagccttctggt	7	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73761965T>A	uc002sje.1	+	14	9910	c.9799T>A	c.(9799-9801)TTG>ATG	p.L3267M	ALMS1_uc002sjf.1_Missense_Mutation_p.L3223M|ALMS1_uc002sjg.2_Missense_Mutation_p.L2653M|ALMS1_uc002sjh.1_Missense_Mutation_p.L2653M|ALMS1_uc010fev.1_Missense_Mutation_p.L82M	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3265					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GCCTTTATTATTGCCATATAA	0.284													A	73761965	T	A	73761965	3	1	272	1	0	0	0	0	1	0	0	0	535	1490	52	5	9839	5	ALMS1	2	73761965	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	610461	73761965	169437408	257	135368											
TPRKB	51002	broad.mit.edu	37	chr2	73957865	73957865	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaagcctctgaaatcTaagagaaaaaaaatgaaaaa	5	5	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73957865T>A	uc002sjn.2	-	4	376	c.265_splice	c.e4-1	p.I89_splice	TPRKB_uc002sjm.2_Splice_Site_p.I128_splice|TPRKB_uc002sjl.2_Splice_Site_p.I56_splice|TPRKB_uc002sjo.2_Splice_Site_p.I89_splice|TPRKB_uc010yrm.1_Intron	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein						protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)|skin(1)	2						CTCTGAAATCTAAGAGAAAAA	0.318													A	73957865	T	A	73957865	5	1	272	1	0	0	0	0	0	0	1	0	16417	1536	53	5	272	5	TPRKB	2	73957865	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	195900	73957865	169241508	258	135369											
SEMA4F	10505	broad.mit.edu	37	chr2	74900583	74900583	+	Splice_Site	DEL	G	G	-													ctcctccctgtcgccctgcaGggggggtcctctatgctgcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:74900582_74900582AG>A	uc002sna.1	+	6	662	c.551_splice	c.e6-2	p.G184_splice	SEMA4F_uc010ysb.1_Splice_Site_p.G120_splice|SEMA4F_uc021vjn.1_Splice_Site_p.G184_splice|SEMA4F_uc010ffq.1_Splice_Site_p.G151_splice|SEMA4F_uc010ffr.1_Splice_Site|SEMA4F_uc002snb.1_Splice_Site|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	184	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGCCCTGCAGGGGGGGTCC	0.587													-	74900583	G	-	74900583	8	5	272	1	0	1	0	1	0	0	1	0	14035	1014	35	0	572	0	SEMA4F	2	74900583	Splice_Site	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	942718	74900583	168298790	259	135370											
RETSAT	54884	broad.mit.edu	37	chr2	85578126	85578126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgctgccctcttccataCgcccaatgtaatggattcct	6	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:85578126C>T	uc002spd.2	-	3	565	c.374G>A	c.(373-375)CGT>CAT	p.R125H	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R64H|RETSAT_uc010fgf.2_Intron	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	125					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	CTCTTCCATACGCCCAATGTA	0.512													T	85578126	C	T	85578126	3	4	272	1	0	0	0	0	1	0	0	0	13238	536	19	1	1494	1	RETSAT	2	85578126	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	10677543	85578126	157621247	260	135371											
C2orf68	388969	broad.mit.edu	37	chr2	85836155	85836155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatccagaggcgtgtgtgcCgacaccttctcactcacctt	10	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:85836155C>T	uc002sqc.2	-	4	486	c.414G>A	c.(412-414)TCG>TCA	p.S138S	USP39_uc002sqb.2_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	138										central_nervous_system(1)	1						GCGTGTGTGCCGACACCTTCT	0.577													T	85836155	C	T	85836155	2	4	272	1	0	0	0	0	0	0	0	1	2187	639	23	1		1	C2orf68	2	85836155	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	258029	85836155	157363218	261	135372											
FAHD2A	51011	broad.mit.edu	37	chr2	96071494	96071494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttgaccccacactccCgaagacgatgacgcagttcc	8	16	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:96071494C>T	uc002sur.2	+	2	367	c.188C>T	c.(187-189)CCG>CTG	p.P63L	FAHD2A_uc002sus.2_Missense_Mutation_p.P63L	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	63							hydrolase activity|metal ion binding			ovary(1)	1						CCCACACTCCCGAAGACGATG	0.607													T	96071494	C	T	96071494	3	4	272	1	0	0	0	0	1	0	0	0	5373	652	23	1	190	1	FAHD2A	2	96071494	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	10235339	96071494	147127879	262	135373											
NCAPH	23397	broad.mit.edu	37	chr2	97025921	97025922	+	Frame_Shift_Ins	INS	-	-	A													aaaacaaaaagaagagtacaINSaaaaaagattttgaaattga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97025920_97025921C>CA	uc002svz.1	+	10	1481_1482	c.1397_1398C>CA	c.(1396-1398)acafs	p.T466fs	NCAPH_uc010fhv.1_Frame_Shift_Ins_p.T455fs|NCAPH_uc010yum.1_Frame_Shift_Ins_p.T442fs|NCAPH_uc010yun.1_Frame_Shift_Ins_p.T330fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	466					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.D469fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAGAAGAGTACAAAAAAAGATT	0.332													A	97025922	-	A	97025921	7	5	272	1	0	1	1	0	0	0	0	0	10209	117	5	0	1440	0	NCAPH	2	97025921	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	954427	97025921	146173452	263	135374											
CNNM4	26504	broad.mit.edu	37	chr2	97462748	97462748	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttgctgcattgtcccacaGggaagtcccacctggccatc	9	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97462748G>T	uc002swx.2	+	2	1501	c.1403_splice	c.e2-1	p.G468_splice	CNNM4_uc010yuy.1_Splice_Site|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4						biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						TTGTCCCACAGGGAAGTCCCA	0.557													T	97462748	G	T	97462748	5	4	272	1	0	0	0	0	0	0	1	0	3615	1014	35	5	1408	5	CNNM4	2	97462748	Splice_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	436827	97462748	145736625	264	135375											
CNNM4	26504	broad.mit.edu	37	chr2	97462840	97462840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggtcaccctggaggaCgtgatcgaggagatcatcaa	14	10	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97462840C>T	uc002swx.2	+	2	1592	c.1494C>T	c.(1492-1494)GAC>GAT	p.D498D	CNNM4_uc010yuy.1_Translation_Start_Site|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	498	CBS 2.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						CCCTGGAGGACGTGATCGAGG	0.597													T	97462840	C	T	97462840	2	4	272	1	0	0	0	0	0	0	0	1	3615	535	19	1		1	CNNM4	2	97462840	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	92	97462840	145736533	265	135376											
FAHD2B	151313	broad.mit.edu	37	chr2	97751578	97751578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagtgaagccggccacGtgggccatggcatctgtggc	15	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97751578G>A	uc002sxm.2	-	5	694	c.543C>T	c.(541-543)CAC>CAT	p.H181H		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	181							hydrolase activity|metal ion binding				0						AGCCGGCCACGTGGGCCATGG	0.562													A	97751578	G	A	97751578	2	1	272	1	0	0	0	0	0	0	0	1	5374	1136	40	1		1	FAHD2B	2	97751578	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	288738	97751578	145447795	266	135377											
EIF5B	9669	broad.mit.edu	37	chr2	99953983	99953983	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgtgagagaccgaatAgaggggctggggccacgagc	19	8	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:99953983A>G	uc002tab.2	+	1	150	c.-34A>G	c.(-36--32)ATAGA>ATGGA		TXNDC9_uc010yvp.1_Intron|TXNDC9_uc002szz.2_5'Flank|TXNDC9_uc002taa.1_5'Flank	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GAGACCGAATAGAGGGGCTGG	0.607													G	99953983	A	G	99953983	1	3	272	1	0	0	0	0	0	0	0	0	5044	435	15	3		3	EIF5B	2	99953983	Translation_Start_Site	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2202405	99953983	143245390	267	135378											
PDCL3	79031	broad.mit.edu	37	chr2	101183019	101183019	+	Frame_Shift_Del	DEL	C	C	-													tacgcaaaaagggtatcttaCcccccaaggaaagtctgaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:101183018_101183018AC>A	uc002tao.2	+	1	172	c.60_60AC>A	c.(58-60)ttafs	p.L20fs		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	20					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AGGGTATCTTACCCCCCAAGG	0.507													-	101183019	C	-	101183019	7	5	272	1	0	1	0	1	0	0	0	0	11628	507	18	0	67	0	PDCL3	2	101183019	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1229036	101183019	142016354	268	135379											
NPAS2	4862	broad.mit.edu	37	chr2	101587503	101587503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggctctggaagacccGccatccgaggccctccactc	11	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:101587503G>A	uc002tap.1	+	12	1393	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	NPAS2_uc010yvt.1_Silent_p.P434P	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	369					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			ovary(3)|upper_aerodigestive_tract(1)	4						TGGAAGACCCGCCATCCGAGG	0.557													A	101587503	G	A	101587503	2	1	272	1	0	0	0	0	0	0	0	1	10563	1074	38	1		1	NPAS2	2	101587503	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	404484	101587503	141611870	269	135380											
MAP4K4	9448	broad.mit.edu	37	chr2	102486181	102486181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtgaggagtcggggaCgacggatgaggaggacgacg	19	7	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:102486181C>T	uc002tbg.2	+	20	2373	c.2318C>T	c.(2317-2319)ACG>ATG	p.T773M	MAP4K4_uc002tbc.2_Missense_Mutation_p.T854M|MAP4K4_uc002tbd.2_Missense_Mutation_p.T746M|MAP4K4_uc002tbe.2_Missense_Mutation_p.T692M|MAP4K4_uc002tbf.2_Missense_Mutation_p.T743M|MAP4K4_uc010yvy.1_Missense_Mutation_p.T769M|MAP4K4_uc002tbh.2_Missense_Mutation_p.T691M|MAP4K4_uc002tbi.2_Missense_Mutation_p.T576M|MAP4K4_uc010yvz.1_Missense_Mutation_p.T749M|MAP4K4_uc002tbk.2_Missense_Mutation_p.T228M|MAP4K4_uc002tbl.2_Translation_Start_Site	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	773					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			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GAGTCGGGGACGACGGATGAG	0.582													T	102486181	C	T	102486181	3	4	272	1	0	0	0	0	1	0	0	0	9262	536	19	1	2647	1	MAP4K4	2	102486181	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	898678	102486181	140713192	270	135381											
IL18R1	8809	broad.mit.edu	37	chr2	103013313	103013313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccaggtagagacgaAccggaagtcttgcctgttct	12	10	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103013313A>G	uc002tbw.3	+	11	1743	c.1593A>G	c.(1591-1593)GAA>GAG	p.E531E	IL18R1_uc010ywc.1_Silent_p.E530E|IL18R1_uc010ywd.1_Silent_p.E375E|IL18R1_uc010fiy.2_Silent_p.E531E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	531	Cytoplasmic (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						GTAGAGACGAACCGGAAGTCT	0.423													G	103013313	A	G	103013313	2	3	272	1	0	0	0	0	0	0	0	1	7647	40	2	3		3	IL18R1	2	103013313	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	527132	103013313	140186060	271	135382											
SLC9A2	6549	broad.mit.edu	37	chr2	103274237	103274237	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctttgagaacattggcacGattttctggtatgctgtggt	11	6	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103274237G>A	uc002tca.2	+	2	646	c.504G>A	c.(502-504)ACG>ACA	p.T168T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	168	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						ACATTGGCACGATTTTCTGGT	0.488													A	103274237	G	A	103274237	2	1	272	1	0	0	0	0	0	0	0	1	14712	1045	37	1		1	SLC9A2	2	103274237	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	260924	103274237	139925136	272	135383											
SLC9A2	6549	broad.mit.edu	37	chr2	103299895	103299895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagtggaactgggccttcGtctgcttcaccctggccttc	11	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103299895G>A	uc002tca.2	+	4	1322	c.1180G>A	c.(1180-1182)GTC>ATC	p.V394I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	394	Helical; Name=K/M9; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CTGGGCCTTCGTCTGCTTCAC	0.507													A	103299895	G	A	103299895	3	1	272	1	0	0	0	0	1	0	0	0	14712	1145	40	1	1194	1	SLC9A2	2	103299895	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	25658	103299895	139899478	273	135384											
SLC9A2	6549	broad.mit.edu	37	chr2	103324830	103324830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctaaagaccagtctgGctcagagagggaagacagtt	11	9	4	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103324830G>A	uc002tca.2	+	12	2463	c.2321G>A	c.(2320-2322)GGC>GAC	p.G774D		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	774	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GACCAGTCTGGCTCAGAGAGG	0.597													A	103324830	G	A	103324830	3	1	272	1	0	0	0	0	1	0	0	0	14712	1203	42	2	2367	2	SLC9A2	2	103324830	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	24935	103324830	139874543	274	135385											
SEPT10	151011	broad.mit.edu	37	chr2	110323432	110323432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacagcaaacggcaacTgtccctgaaaaagaatatcg	7	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:110323432T>G	uc002tew.2	-	7	1146	c.767A>C	c.(766-768)CAG>CCG	p.Q256P	SEPT10_uc010ywu.1_Missense_Mutation_p.Q89P|SEPT10_uc002tex.2_Missense_Mutation_p.Q233P|SEPT10_uc002tey.2_Missense_Mutation_p.Q256P|SEPT10_uc010ywv.1_Missense_Mutation_p.Q122P|SEPT10_uc002tev.1_Missense_Mutation_p.Q63P|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Missense_Mutation_p.Q31P	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	256					cell cycle|cell division	septin complex	GTP binding				0						AAACGGCAACTGTCCCTGAAA	0.388													G	110323432	T	G	110323432	3	3	272	1	0	0	0	0	1	0	0	0	14060	1580	55	5	617	5	SEPT10	2	110323432	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	6998602	110323432	132875941	275	135386											
RABL2A	11159	broad.mit.edu	37	chr2	114398948	114398948	+	Frame_Shift_Del	DEL	A	A	-													agcagacataaacgtgacccAaaaaagcttcaattttgcca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:114398947_114398947CA>C	uc002tks.4	+	7	568	c.427_427CA>C	c.(427-429)caafs	p.Q143fs	RABL2A_uc002tkn.4_Frame_Shift_Del_p.Q142fs|RABL2A_uc010flb.3_Frame_Shift_Del_p.Q142fs|RABL2A_uc002tkm.4_Frame_Shift_Del_p.Q79fs|RABL2A_uc002tkr.3_Frame_Shift_Del_p.Q143fs|RABL2A_uc002tkp.4_Frame_Shift_Del_p.Q143fs	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	142					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						AAACGTGACCCAAAAAAGCTT	0.507													-	114398948	A	-	114398948	7	5	272	1	0	1	0	1	0	0	0	0	12970	130	5	0	447	0	RABL2A	2	114398948	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4075516	114398948	128800425	276	135387											
STEAP3	55240	broad.mit.edu	37	chr2	120003324	120003324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggcagtgagctccccGgaggtcatctttgtggctgt	16	9	2	1	rs144377604	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:120003324G>A	uc002tlp.2	+	3	409	c.252G>A	c.(250-252)CCG>CCA	p.P84P	STEAP3_uc002tlq.2_Silent_p.P94P|STEAP3_uc002tlr.2_Silent_p.P84P|STEAP3_uc010fle.2_Silent_p.P84P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	84	Cytoplasmic (Potential).				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			central_nervous_system(2)|skin(1)	3						TGAGCTCCCCGGAGGTCATCT	0.592													A	120003324	G	A	120003324	2	1	272	1	0	0	0	0	0	0	0	1	15278	1103	39	1		1	STEAP3	2	120003324	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5604376	120003324	123196049	277	135388											
STEAP3	55240	broad.mit.edu	37	chr2	120005744	120005744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttgccgctgcgccgcGcccaccgctacgacctggtc	11	19	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:120005744G>A	uc002tlp.2	+	4	1139	c.982G>A	c.(982-984)GCC>ACC	p.A328T	STEAP3_uc002tlq.2_Missense_Mutation_p.A338T|STEAP3_uc002tlr.2_Missense_Mutation_p.A328T|STEAP3_uc010fle.2_Missense_Mutation_p.A328T	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	328	Ferric oxidoreductase.|Vesicular (Potential).				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			central_nervous_system(2)|skin(1)	3						GCTGCGCCGCGCCCACCGCTA	0.652													A	120005744	G	A	120005744	3	1	272	1	0	0	0	0	1	0	0	0	15278	1087	38	1	1022	1	STEAP3	2	120005744	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2420	120005744	123193629	278	135389											
C2orf76	130355	broad.mit.edu	37	chr2	120069198	120069198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaggcccccttcctcacCgattccagctgctttcagag	7	17	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:120069198C>T	uc002tls.2	-	6	845	c.304G>A	c.(304-306)GCC>ACC	p.A102T	C2orf76_uc010flf.1_Missense_Mutation_p.A102T|C2orf76_uc010yyg.1_RNA|C2orf76_uc002tlt.2_Missense_Mutation_p.A102T|C2orf76_uc002tlu.2_Missense_Mutation_p.A102T	NM_001017927	NP_001017927	Q3KRA6	CB076_HUMAN	hypothetical protein LOC130355	102											0						CCTTCCTCACCGATTCCAGCT	0.468													T	120069198	C	T	120069198	3	4	272	1	0	0	0	0	1	0	0	0	2193	666	23	1	84	1	C2orf76	2	120069198	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	63454	120069198	123130175	279	135390											
GYPC	2995	broad.mit.edu	37	chr2	127453674	127453674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagggagaccctgccCtccaagatgctggtgatagc	12	14	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:127453674C>A	uc002tnq.2	+	4	499	c.343C>A	c.(343-345)CTC>ATC	p.L115I	GYPC_uc002tnr.2_Missense_Mutation_p.L96I|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	115	Cytoplasmic.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGACCCTGCCCTCCAAGATGC	0.542													A	127453674	C	A	127453674	3	1	272	1	0	0	0	0	1	0	0	0	6910	681	24	5	357	5	GYPC	2	127453674	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7384476	127453674	115745699	280	135391											
ERCC3	2071	broad.mit.edu	37	chr2	128028923	128028923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactttaccttttttagctCgaagcacccgccctagcctt	5	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128028923C>T	uc002toh.1	-	12	2029	c.1934G>A	c.(1933-1935)CGA>CAA	p.R645Q	ERCC3_uc002toe.1_Missense_Mutation_p.R400Q|ERCC3_uc002tof.1_Missense_Mutation_p.R581Q|ERCC3_uc002tog.1_Missense_Mutation_p.R581Q	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	645	Helicase C-terminal.				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			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTTTTTAGCTCGAAGCACCCG	0.507			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	128028923	C	T	128028923	3	4	272	1	0	0	0	0	1	0	0	0	5214	884	31	1	430	1	ERCC3	2	128028923	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	575249	128028923	115170450	281	135392											
ERCC3	2071	broad.mit.edu	37	chr2	128030525	128030525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccctgagacgtaggtccGtagatatagggtctagagaa	12	9	1	3	rs147061557		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128030525G>A	uc002toh.1	-	11	1838	c.1743C>T	c.(1741-1743)TAC>TAT	p.Y581Y	ERCC3_uc002toe.1_Silent_p.Y336Y|ERCC3_uc002tof.1_Silent_p.Y517Y|ERCC3_uc002tog.1_Silent_p.Y517Y	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	581	Helicase C-terminal.				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			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACGTAGGTCCGTAGATATAGG	0.428			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	128030525	G	A	128030525	2	1	272	1	0	0	0	0	0	0	0	1	5214	1140	40	1		1	ERCC3	2	128030525	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1602	128030525	115168848	282	135393											
ERCC3	2071	broad.mit.edu	37	chr2	128038146	128038146	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcttcgcggacgagggtCgcagtcaaacccagcttaca	10	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128038146C>T	uc002toh.1	-	9	1499	c.1404G>A	c.(1402-1404)GCG>GCA	p.A468A	ERCC3_uc002toe.1_Silent_p.A223A|ERCC3_uc002tof.1_Silent_p.A404A|ERCC3_uc002tog.1_Silent_p.A404A	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	468	Helicase ATP-binding.				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			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGACGAGGGTCGCAGTCAAAC	0.488			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	128038146	C	T	128038146	2	4	272	1	0	0	0	0	0	0	0	1	5214	871	31	1		1	ERCC3	2	128038146	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7621	128038146	115161227	283	135394											
WDR33	55339	broad.mit.edu	37	chr2	128466263	128466263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttacctttgcctcctcGgtcttcagaagggcctcctg	9	15	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128466263G>A	uc002tpg.1	-	21	3952	c.3769C>T	c.(3769-3771)CGA>TGA	p.R1257*		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1257					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTGCCTCCTCGGTCTTCAGAA	0.612													A	128466263	G	A	128466263	4	1	272	1	0	0	0	0	0	1	0	0	17284	1124	39	1	249	1	WDR33	2	128466263	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	428117	128466263	114733110	284	135395											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628889	128628889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggtcccaatgcagccaCgaagccgcttgtcccgccct	10	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128628889C>T	uc002tpl.2	-	4	703	c.452G>A	c.(451-453)CGT>CAT	p.R151H	AMMECR1L_uc002tpm.2_Missense_Mutation_p.R151H	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	151	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AATGCAGCCACGAAGCCGCTT	0.443													T	128628889	C	T	128628889	3	4	272	1	0	0	0	0	1	0	0	0	579	536	19	1	500	1	AMMECR1L	2	128628889	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	162626	128628889	114570484	285	135396											
HS6ST1	9394	broad.mit.edu	37	chr2	129026328	129026328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcctcaggcgtgggcGtgcgcccatcacacatatgc	12	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:129026328G>A	uc002tpt.3	-	2	678	c.644C>T	c.(643-645)ACG>ATG	p.T215M		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	215	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGGCGTGGGCGTGCGCCCATC	0.647													A	129026328	G	A	129026328	3	1	272	1	0	0	0	0	1	0	0	0	7370	1145	40	1	595	1	HS6ST1	2	129026328	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	397439	129026328	114173045	286	135397											
RAB6C	84084	broad.mit.edu	37	chr2	130738414	130738414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcccttcattaataacGttttgcaattcatcattgct	3	10	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:130738414G>A	uc002tpx.1	+	1	1180	c.726G>A	c.(724-726)ACG>ACA	p.T242T	uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	242					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1	Colorectal(110;0.1)					CATTAATAACGTTTTGCAATT	0.393													A	130738414	G	A	130738414	2	1	272	1	0	0	0	0	0	0	0	1	12953	1132	40	1		1	RAB6C	2	130738414	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1712086	130738414	112460959	287	135398											
SMPD4	55627	broad.mit.edu	37	chr2	130939110	130939110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccactcacctgtgggAtccatagcgtcgctcgcctc	10	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:130939110A>G	uc002tqq.1	-	1	585	c.65T>C	c.(64-66)ATC>ACC	p.I22T	FAM128B_uc002tqu.2_5'Flank|uc010zae.1_5'Flank|SMPD4_uc010yzy.1_Missense_Mutation_p.I22T|SMPD4_uc010yzz.1_5'UTR|SMPD4_uc002tqr.1_Missense_Mutation_p.I22T|SMPD4_uc002tqs.1_5'UTR|SMPD4_uc002tqt.1_5'UTR|SMPD4_uc010zaa.1_5'UTR|SMPD4_uc010zab.1_Missense_Mutation_p.I22T|SMPD4_uc010zac.1_5'UTR|SMPD4_uc010zad.1_5'UTR	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	Error:Variant_position_missing_in_Q9NXE4_after_alignment					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				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CACCTGTGGGATCCATAGCGT	0.726													G	130939110	A	G	130939110	3	3	272	1	0	0	0	0	1	0	0	0	14807	333	12	3	2615	3	SMPD4	2	130939110	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	200696	130939110	112260263	288	135399											
GPR39	2863	broad.mit.edu	37	chr2	133174993	133174993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgctacgctgctgcacgtGctgacactcagctttgagcg	11	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:133174993G>A	uc002ttl.2	+	1	847	c.378G>A	c.(376-378)GTG>GTA	p.V126V		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	126	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TGCTGCACGTGCTGACACTCA	0.577													A	133174993	G	A	133174993	2	1	272	1	0	0	0	0	0	0	0	1	6693	1306	46	2		2	GPR39	2	133174993	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2235883	133174993	110024380	289	135400											
NCKAP5	344148	broad.mit.edu	37	chr2	133636480	133636480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctccaaagccaacgctgAattctctgcctgcagtaaga	7	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:133636480A>G	uc002ttp.2	-	9	963	c.589T>C	c.(589-591)TCA>CCA	p.S197P	NCKAP5_uc002ttq.2_Missense_Mutation_p.S197P	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	197	Potential.						protein binding				0						GCCAACGCTGAATTCTCTGCC	0.388													G	133636480	A	G	133636480	3	3	272	1	0	0	0	0	1	0	0	0	10223	246	9	3	5188	3	NCKAP5	2	133636480	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	461487	133636480	109562893	290	135401											
LRP1B	53353	broad.mit.edu	37	chr2	141143493	141143493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgaattatcactgcaGtcattttggctatcacaccg	6	11	5	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:141143493G>A	uc002tvj.1	-	67	11472	c.10500C>T	c.(10498-10500)GAC>GAT	p.D3500D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3500	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TATCACTGCAGTCATTTTGGC	0.373										TSP Lung(27;0.18)			A	141143493	G	A	141143493	2	1	272	1	0	0	0	0	0	0	0	1	8955	1020	36	4		4	LRP1B	2	141143493	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7507013	141143493	102055880	291	135402											
LRP1B	53353	broad.mit.edu	37	chr2	141643823	141643823	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcaatccaggaacaAgtagactatagtctcttttg	7	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:141643823A>T	uc002tvj.1	-	24	4820	c.3848T>A	c.(3847-3849)CTT>CAT	p.L1283H	LRP1B_uc010fnl.1_Missense_Mutation_p.L465H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1283	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TCCAGGAACAAGTAGACTATA	0.328										TSP Lung(27;0.18)			T	141643823	A	T	141643823	3	4	272	1	0	0	0	0	1	0	0	0	8955	72	3	5	10223	5	LRP1B	2	141643823	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	500330	141643823	101555550	292	135403											
ZEB2	9839	broad.mit.edu	37	chr2	145157105	145157105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttatattactgatcTgtctccttgagtcagtagtc	6	9	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:145157105T>C	uc002tvu.2	-	8	2129	c.1649A>G	c.(1648-1650)CAG>CGG	p.Q550R	ZEB2_uc002tvv.2_Missense_Mutation_p.Q544R|ZEB2_uc010zbm.1_Missense_Mutation_p.Q521R|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.Q579R	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	550						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTACTGATCTGTCTCCTTGA	0.373													C	145157105	T	C	145157105	3	2	272	1	0	0	0	0	1	0	0	0	17621	1580	55	3	2007	3	ZEB2	2	145157105	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3513282	145157105	98042268	293	135404											
NEB	4703	broad.mit.edu	37	chr2	152468749	152468749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaggacaatttccggagtgTcggtaatgcatgtgaatttg	12	6	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:152468749T>C	uc010fnx.2	-	74	11218	c.11027A>G	c.(11026-11028)GAC>GGC	p.D3676G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3676	Nebulin 101.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCGGAGTGTCGGTAATGCA	0.478													C	152468749	T	C	152468749	3	2	272	1	0	0	0	0	1	0	0	0	10302	1667	58	3	14350	3	NEB	2	152468749	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	7311644	152468749	90730624	294	135405											
PRPF40A	55660	broad.mit.edu	37	chr2	153529111	153529111	+	Frame_Shift_Del	DEL	T	T	-													tataggcattaaaggcttgcTttttttcacttaactttgcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:153529111delT	uc002tyi.2	-	13	1326	c.1313delA	c.(1312-1314)AAGfs	p.K438fs	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc002tyh.3_Frame_Shift_Del_p.K411fs|PRPF40A_uc010zcd.1_Frame_Shift_Del_p.K358fs|PRPF40A_uc002tyj.2_Frame_Shift_Del_p.K307fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	438	FF 1.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						AAAGGCTTGCTTTTTTTCACT	0.308													-	153529111	T	-	153529111	7	5	272	1	0	1	0	1	0	0	0	0	12571	1609	56	0	1616	0	PRPF40A	2	153529111	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1060362	153529111	89670262	295	135406											
NR4A2	4929	broad.mit.edu	37	chr2	157185981	157185981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcgagcagctgagacgCgtggccgatctgcaggcccg	16	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:157185981C>T	uc002tyz.3	-	3	1140	c.718G>A	c.(718-720)GCG>ACG	p.A240T	NR4A2_uc002tyx.3_Missense_Mutation_p.A177T|NR4A2_uc010zcf.1_Missense_Mutation_p.A240T|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	240					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			ovary(3)	3						AGCTGAGACGCGTGGCCGATC	0.716													T	157185981	C	T	157185981	3	4	272	1	0	0	0	0	1	0	0	0	10633	768	27	1	1102	1	NR4A2	2	157185981	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3656870	157185981	86013392	296	135407											
ACVR1C	130399	broad.mit.edu	37	chr2	158399322	158399322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcacaagtttcacacttTttcactaagatattctttga	5	8	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:158399322T>C	uc002tzk.3	-	6	1239	c.996A>G	c.(994-996)AAA>AAG	p.K332K	ACVR1C_uc002tzl.3_Silent_p.K252K|ACVR1C_uc010fof.2_Silent_p.K175K|ACVR1C_uc010foe.2_Silent_p.K282K	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	332	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						TTTCACACTTTTTCACTAAGA	0.383													C	158399322	T	C	158399322	2	2	272	1	0	0	0	0	0	0	0	1	222	1838	64	3		3	ACVR1C	2	158399322	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1213341	158399322	84800051	297	135408											
PKP4	8502	broad.mit.edu	37	chr2	159488414	159488414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaccatggaactgtggagCtccaaggatcgcagacggcg	13	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:159488414C>T	uc002tzv.2	+	8	1563	c.1303C>T	c.(1303-1305)CTC>TTC	p.L435F	PKP4_uc002tzt.1_Missense_Mutation_p.L287F|PKP4_uc002tzu.2_Missense_Mutation_p.L435F|PKP4_uc002tzw.2_Missense_Mutation_p.L435F|PKP4_uc002tzx.2_Missense_Mutation_p.L93F|PKP4_uc002tzy.1_Missense_Mutation_p.L93F|PKP4_uc002tzz.1_Missense_Mutation_p.L433F|PKP4_uc002uaa.2_Missense_Mutation_p.L287F	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	435	ARM 1.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						AACTGTGGAGCTCCAAGGATC	0.512										HNSCC(62;0.18)			T	159488414	C	T	159488414	3	4	272	1	0	0	0	0	1	0	0	0	11987	797	28	2	1329	2	PKP4	2	159488414	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1089092	159488414	83710959	298	135409											
SCN3A	6328	broad.mit.edu	37	chr2	165950947	165950948	+	Frame_Shift_Ins	INS	-	-	T													tcttcattgcattgtaatatINStttttctgttcctctgtcat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:165950946_165950947A>AT	uc002ucx.3	-	25	4965_4966	c.4473_4474T>AT	c.(4471-4476)aaatatfs	p.K1491fs	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Frame_Shift_Ins_p.K1442fs|SCN3A_uc002ucz.3_Frame_Shift_Ins_p.K1442fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1491						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)	GCATTGTAATATTTTTTCTGTT	0.356													T	165950948	-	T	165950947	7	5	272	1	0	1	1	0	0	0	0	0	13918	1490	52	0	1541	0	SCN3A	2	165950947	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	6462533	165950947	77248426	299	135410											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170558101	170558102	+	Frame_Shift_Del	DEL	CT	CT	-													aggatataccttacagaaaaCtctttccagaatgtctcaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:170558100_170558101ACT>A	uc021vsh.1	+	3	937_938	c.619_620ACT>A	c.(619-621)actfs	p.T207fs	PHOSPHO2_uc021vsi.1_Frame_Shift_Del_p.T207fs|PHOSPHO2_uc021vsj.1_Frame_Shift_Del_p.T207fs|PHOSPHO2_uc021vsg.1_Frame_Shift_Del_p.T207fs|PHOSPHO2_uc002ufg.3_Frame_Shift_Del_p.T207fs|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Frame_Shift_Del_p.T207fs	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	207							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTTACAGAAAACTCTTTCCAGA	0.347													-	170558102	CT	-	170558101	7	5	272	1	0	1	0	1	0	0	0	0	11857	565	20	0	622	0	PHOSPHO2	2	170558101	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GQ-01A-11D-A25D-08	4607154	170558101	72641272	300	135411											
GORASP2	26003	broad.mit.edu	37	chr2	171822461	171822461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgcccaccagcaacgcaCcctccgaccctgccacaact	5	23	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:171822461C>T	uc002ugk.2	+	10	1320	c.1180C>T	c.(1180-1182)CCC>TCC	p.P394S	GORASP2_uc002ugj.2_Missense_Mutation_p.P326S|GORASP2_uc010zdl.1_Missense_Mutation_p.P406S|GORASP2_uc010zdm.1_Missense_Mutation_p.P350S|GORASP2_uc002ugl.2_Missense_Mutation_p.P326S|GORASP2_uc002ugm.2_Missense_Mutation_p.P176S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	394						Golgi membrane				breast(1)|central_nervous_system(1)	2						CAGCAACGCACCCTCCGACCC	0.627													T	171822461	C	T	171822461	3	4	272	1	0	0	0	0	1	0	0	0	6576	507	18	4	1218	4	GORASP2	2	171822461	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1264360	171822461	71376912	301	135412											
CYBRD1	79901	broad.mit.edu	37	chr2	172379245	172379245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgtcttcatccagggcAtcggtactggcacctcctgg	11	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:172379245A>G	uc002ugy.3	+	1	380	c.190A>G	c.(190-192)ATC>GTC	p.I64V	CYBRD1_uc002ugz.3_Missense_Mutation_p.I64V	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	64	Cytochrome b561.|Helical; Name=2; (Potential).				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						CATCCAGGGCATCGGTACTGG	0.647													G	172379245	A	G	172379245	3	3	272	1	0	0	0	0	1	0	0	0	4134	217	8	3	192	3	CYBRD1	2	172379245	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	556784	172379245	70820128	302	135413											
HOXD10	3236	broad.mit.edu	37	chr2	176982041	176982041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtcagacctacgccacCgggaaaacccaagagtacaa	9	13	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:176982041C>T	uc002ukj.2	+	1	550	c.480C>T	c.(478-480)ACC>ACT	p.T160T		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	160						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTACGCCACCGGGAAAACCC	0.592													T	176982041	C	T	176982041	2	4	272	1	0	0	0	0	0	0	0	1	7319	639	23	1		1	HOXD10	2	176982041	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4602796	176982041	66217332	303	135414											
TTN	7273	broad.mit.edu	37	chr2	179417885	179417885	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaccaactccattttcTattgtgagaatatattttcc	5	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179417885T>G	uc010zfg.1	-	284	82262	c.82038A>C	c.(82036-82038)ATA>ATC	p.I27346I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I21041I|TTN_uc010zfi.1_Silent_p.I20974I|TTN_uc010zfj.1_Silent_p.I20849I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28273							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCATTTTCTATTGTGAGAA	0.408													G	179417885	T	G	179417885	2	3	272	1	0	0	0	0	0	0	0	1	16732	1512	53	5		5	TTN	2	179417885	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2435844	179417885	63781488	304	135415											
TTN	7273	broad.mit.edu	37	chr2	179438692	179438692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccattgttggaggtgggCggcctgaaacatcagcttcc	12	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179438692C>T	uc010zfg.1	-	275	64687	c.64463G>A	c.(64462-64464)CGC>CAC	p.R21488H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15183H|TTN_uc010zfi.1_Missense_Mutation_p.R15116H|TTN_uc010zfj.1_Missense_Mutation_p.R14991H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22415							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGGTGGGCGGCCTGAAAC	0.408													T	179438692	C	T	179438692	3	4	272	1	0	0	0	0	1	0	0	0	16732	768	27	1	35960	1	TTN	2	179438692	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	20807	179438692	63760681	305	135416											
TTN	7273	broad.mit.edu	37	chr2	179452670	179452670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctttagctctgcagggCgcccaataccaacttggttt	8	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179452670C>T	uc010zfg.1	-	254	55984	c.55760G>A	c.(55759-55761)CGC>CAC	p.R18587H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12282H|TTN_uc010zfi.1_Missense_Mutation_p.R12215H|TTN_uc010zfj.1_Missense_Mutation_p.R12090H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19514							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGCAGGGCGCCCAATACC	0.438													T	179452670	C	T	179452670	3	4	272	1	0	0	0	0	1	0	0	0	16732	768	27	1	44747	1	TTN	2	179452670	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13978	179452670	63746703	306	135417											
TTN	7273	broad.mit.edu	37	chr2	179474028	179474028	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggtcggagagaatctcGgacgcgtagctgagattctc	14	9	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179474028G>A	uc010zfg.1	-	222	44529	c.44305C>T	c.(44305-44307)CGA>TGA	p.R14769*	uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R8464*|TTN_uc010zfi.1_Nonsense_Mutation_p.R8397*|TTN_uc010zfj.1_Nonsense_Mutation_p.R8272*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15696							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATCTCGGACGCGTAGC	0.453													A	179474028	G	A	179474028	4	1	272	1	0	0	0	0	0	1	0	0	16732	1124	39	1	56044	1	TTN	2	179474028	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	21358	179474028	63725345	307	135418											
TTN	7273	broad.mit.edu	37	chr2	179483201	179483201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtcacttctaagttacGtactggcccaggaacatctg	8	11	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179483201G>A	uc010zfg.1	-	201	39504	c.39280C>T	c.(39280-39282)CGT>TGT	p.R13094C	TTN_uc010zfh.1_Missense_Mutation_p.R6789C|TTN_uc010zfi.1_Missense_Mutation_p.R6722C|TTN_uc010zfj.1_Missense_Mutation_p.R6597C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14021							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAAGTTACGTACTGGCCCA	0.393													A	179483201	G	A	179483201	3	1	272	1	0	0	0	0	1	0	0	0	16732	1145	40	1	61153	1	TTN	2	179483201	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9173	179483201	63716172	308	135419											
TTN	7273	broad.mit.edu	37	chr2	179583532	179583532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacaactccagttctgtgAcaaaatcttccagagagatg	7	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179583532A>G	uc010zfg.1	-	81	20887	c.20663T>C	c.(20662-20664)GTC>GCC	p.V6888A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V3549A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7815							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTCTGTGACAAAATCTTC	0.483													G	179583532	A	G	179583532	3	3	272	1	0	0	0	0	1	0	0	0	16732	275	10	3	80250	3	TTN	2	179583532	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	100331	179583532	63615841	309	135420											
TTN	7273	broad.mit.edu	37	chr2	179591896	179591896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatctccactgtcctcAgtactgagattgttcatctg	7	10	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179591896A>G	uc010zfg.1	-	66	16688	c.16464T>C	c.(16462-16464)ACT>ACC	p.T5488T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2149T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6415							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTCCTCAGTACTGAGAT	0.438													G	179591896	A	G	179591896	2	3	272	1	0	0	0	0	0	0	0	1	16732	175	7	3		3	TTN	2	179591896	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	8364	179591896	63607477	310	135421											
TTN	7273	broad.mit.edu	37	chr2	179645895	179645895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttctccatgcttattgCgaacaacaatagtgtattct	6	8	2	0	rs149883066		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179645895C>T	uc010zfg.1	-	21	3700	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H	TTN_uc010zfh.1_Missense_Mutation_p.R1113H|TTN_uc010zfi.1_Missense_Mutation_p.R1113H|TTN_uc010zfj.1_Missense_Mutation_p.R1113H|TTN_uc002unb.2_Missense_Mutation_p.R1159H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1159							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTTATTGCGAACAACAAT	0.388													T	179645895	C	T	179645895	3	4	272	1	0	0	0	0	1	0	0	0	16732	768	27	1	107880	1	TTN	2	179645895	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	53999	179645895	63553478	311	135422											
SSFA2	6744	broad.mit.edu	37	chr2	182766502	182766502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttggtaggccgttttcGtcaaattgaagtgcttacta	9	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:182766502G>A	uc002uoi.2	+	8	1044	c.722G>A	c.(721-723)CGT>CAT	p.R241H	SSFA2_uc002uoh.2_Missense_Mutation_p.R241H|SSFA2_uc002uoj.2_Missense_Mutation_p.R241H|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R88H|SSFA2_uc002uol.2_Missense_Mutation_p.R88H	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	241						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGCCGTTTTCGTCAAATTGAA	0.303													A	182766502	G	A	182766502	3	1	272	1	0	0	0	0	1	0	0	0	15182	1145	40	1	752	1	SSFA2	2	182766502	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3120607	182766502	60432871	312	135423											
PDE1A	5136	broad.mit.edu	37	chr2	183095828	183095828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacttgcttcatttagggCaaatacatcgaaagaccatt	6	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:183095828C>A	uc002uos.2	-	6	580	c.496G>T	c.(496-498)GCC>TCC	p.A166S	PDE1A_uc010zfp.1_Missense_Mutation_p.A62S|PDE1A_uc002uoq.1_Missense_Mutation_p.A166S|PDE1A_uc010zfq.1_Missense_Mutation_p.A166S|PDE1A_uc002uor.2_Missense_Mutation_p.A150S|PDE1A_uc002uou.2_Missense_Mutation_p.A132S	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	166					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			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCATTTAGGGCAAATACATCG	0.328													A	183095828	C	A	183095828	3	1	272	1	0	0	0	0	1	0	0	0	11633	710	25	5	1229	5	PDE1A	2	183095828	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	329326	183095828	60103545	313	135424											
MSTN	2660	broad.mit.edu	37	chr2	190925048	190925048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttgtaggagtctcgaCgggtctcaaatatatccata	9	9	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:190925048C>T	uc002urp.2	-	2	620	c.487G>A	c.(487-489)GTC>ATC	p.V163I		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	163					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GGAGTCTCGACGGGTCTCAAA	0.383													T	190925048	C	T	190925048	3	4	272	1	0	0	0	0	1	0	0	0	9893	536	19	1	648	1	MSTN	2	190925048	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7829220	190925048	52274325	314	135425											
NAB1	4664	broad.mit.edu	37	chr2	191524601	191524601	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttggccaaaatgattggTcacatctttgagatgaacga	10	6	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:191524601T>C	uc002usb.2	+	4	1271	c.699T>C	c.(697-699)GGT>GGC	p.G233G	NAB1_uc010fsc.2_Silent_p.G233G|NAB1_uc010fsd.2_Silent_p.G233G|NAB1_uc002usc.2_Silent_p.G233G|NAB1_uc010zgh.1_Silent_p.G233G	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	233	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AAATGATTGGTCACATCTTTG	0.438													C	191524601	T	C	191524601	2	2	272	1	0	0	0	0	0	0	0	1	10131	1654	58	3		3	NAB1	2	191524601	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	599553	191524601	51674772	315	135426											
ALS2CR12	130540	broad.mit.edu	37	chr2	202173902	202173902	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaggatattttctcgctcGaacttctcatccttcttcca	5	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:202173902G>A	uc010ftg.2	-	10	1191	c.747C>T	c.(745-747)TTC>TTT	p.F249F	ALS2CR12_uc002uya.3_Silent_p.F249F|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	249					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TTTCTCGCTCGAACTTCTCAT	0.403													A	202173902	G	A	202173902	2	1	272	1	0	0	0	0	0	0	0	1	553	1049	37	1		1	ALS2CR12	2	202173902	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10649301	202173902	41025471	316	135427											
ALS2	57679	broad.mit.edu	37	chr2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaccatgaccatgacGcatattatcttgaaaacagc	7	9	1	5	rs149670991	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:202589136G>A	uc002uyo.2	-	21	3750	c.3394C>T	c.(3394-3396)CGT>TGT	p.R1132C	ALS2_uc002uyp.3_Missense_Mutation_p.R1132C|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1132	MORN 4.				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			skin(5)|lung(1)|breast(1)	7						TGACCATGACGCATATTATCT	0.413													A	202589136	G	A	202589136	3	1	272	1	0	0	0	0	1	0	0	0	550	1087	38	1	1635	1	ALS2	2	202589136	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	415234	202589136	40610237	317	135428											
CYP20A1	57404	broad.mit.edu	37	chr2	204131350	204131350	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacacagatggtaatgggTagtacatttgaagatgatca	11	4	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:204131350T>C	uc002uzv.3	+	5	1168	c.546T>C	c.(544-546)GGT>GGC	p.G182G	CYP20A1_uc002uzx.3_Silent_p.G80G|CYP20A1_uc010zif.1_Silent_p.G182G|CYP20A1_uc002uzy.3_Silent_p.G80G|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_5'UTR	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	182						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						TGGTAATGGGTAGTACATTTG	0.403													C	204131350	T	C	204131350	2	2	272	1	0	0	0	0	0	0	0	1	4152	1625	57	3		3	CYP20A1	2	204131350	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1542214	204131350	39068023	318	135429											
ICOS	29851	broad.mit.edu	37	chr2	204801578	204801578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttctcttctgcttgcGcattaaagttttaacaggta	6	8	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:204801578G>A	uc002vam.2	+	1	108	c.41G>A	c.(40-42)CGC>CAC	p.R14H	ICOS_uc010zip.1_Missense_Mutation_p.R14H|ICOS_uc010fua.2_Missense_Mutation_p.R14H	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	14					immune response|T cell costimulation	extracellular region					0						TTCTGCTTGCGCATTAAAGTT	0.358													A	204801578	G	A	204801578	3	1	272	1	0	0	0	0	1	0	0	0	7486	1087	38	1	43	1	ICOS	2	204801578	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	670228	204801578	38397795	319	135430											
NDUFS1	4719	broad.mit.edu	37	chr2	206991571	206991573	+	Splice_Site	DEL	ACA	ACA	-													aagagtcattccagcaatctAcaacatgtcaggtccccaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:206991570_206991572TACA>T	uc010ziq.2	-	17	1988	c.1927_splice	c.e17-1	p.I643_splice	NDUFS1_uc002vbe.3_Splice_Site_p.I629_splice|NDUFS1_uc010zir.2_Splice_Site_p.I593_splice|NDUFS1_uc010zis.2_Splice_Site_p.I572_splice|NDUFS1_uc010zit.2_Splice_Site_p.I518_splice|NDUFS1_uc010ziu.2_Splice_Site_p.I513_splice	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	629					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TCCAGCAATCTACAACATGTCAG	0.335													-	206991573	ACA	-	206991571	8	5	272	1	0	1	0	1	0	0	1	0	10291	406	14	0		0	NDUFS1	2	206991571	Splice_Site	DEL	ACA	TCGA-HU-A4GQ-01A-11D-A25D-08	2189993	206991571	36207802	320	135431											
EEF1B2	1933	broad.mit.edu	37	chr2	207027606	207027607	+	Frame_Shift_Del	DEL	AA	AA	-													ggctgctttcaacaagatctAaaatccatcctggatcatgg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:207027606_207027607delAA	uc002vbf.1	+	7	835_836	c.677_678delAA	c.(676-678)TAAfs	p.*226fs	EEF1B2_uc002vbg.1_Frame_Shift_Del_p.*226fs|EEF1B2_uc002vbh.1_Frame_Shift_Del_p.*226fs	NM_001037663	NP_001032752	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta	226						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AACAAGATCTAAAATCCATCCT	0.386													-	207027607	AA	-	207027606	7	5	272	1	0	1	0	1	0	0	0	0	4925	369	13	0	699	0	EEF1B2	2	207027606	Frame_Shift_Del	DEL	AA	TCGA-HU-A4GQ-01A-11D-A25D-08	36035	207027606	36171767	321	135432											
DYTN	391475	broad.mit.edu	37	chr2	207570544	207570544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagggctgtctcctgagAgggttattagggcagcggcc	16	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:207570544A>G	uc002vbr.1	-	4	467	c.350T>C	c.(349-351)CTC>CCC	p.L117P		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	117						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTCTCCTGAGAGGGTTATTAG	0.502													G	207570544	A	G	207570544	3	3	272	1	0	0	0	0	1	0	0	0	4861	304	11	3	1422	3	DYTN	2	207570544	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	542938	207570544	35628829	322	135433											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	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)		TGGCATCTGCACCCCCCCAGT	0.527													-	209025577	C	-	209025577	7	5	272	1	0	1	0	1	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1455033	209025577	34173796	323	135434											
ACADL	33	broad.mit.edu	37	chr2	211089983	211089983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcggagaaggcgtgcgGccatgtccgaaacacagggg	15	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:211089983G>A	uc002vdz.3	-	1	233	c.5C>T	c.(4-6)GCC>GTC	p.A2V	ACADL_uc010zjg.1_Missense_Mutation_p.A2V	NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	2					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				0		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)		AAGGCGTGCGGCCATGTCCGA	0.751													A	211089983	G	A	211089983	3	1	272	1	0	0	0	0	1	0	0	0	112	1203	42	2	1331	2	ACADL	2	211089983	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2064406	211089983	32109390	324	135435											
CPS1	1373	broad.mit.edu	37	chr2	211466978	211466978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctacccagtgatgatccGttccgcctatgcactgggtg	12	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:211466978G>A	uc002vee.3	+	16	1892	c.1760G>A	c.(1759-1761)CGT>CAT	p.R587H	CPS1_uc010fur.2_Missense_Mutation_p.R593H|CPS1_uc010fus.2_Missense_Mutation_p.R136H	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	587	ATP-grasp 1.		R -> H (in CPS1D).		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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTGATGATCCGTTCCGCCTAT	0.468													A	211466978	G	A	211466978	3	1	272	1	0	0	0	0	1	0	0	0	3823	1145	40	1	1844	1	CPS1	2	211466978	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	376995	211466978	31732395	325	135436											
IKZF2	22807	broad.mit.edu	37	chr2	213872511	213872512	+	Frame_Shift_Ins	INS	-	-	G													actctttggtctgatgagagINSagatggggccatccatgttg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:213872510_213872511A>AG	uc002vem.3	-	7	1323_1324	c.1154_1155T>CT	c.(1153-1155)tctfs	p.S385fs	IKZF2_uc010fuu.3_Frame_Shift_Ins_p.S240fs|IKZF2_uc002vej.3_Frame_Shift_Ins_p.S332fs|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Frame_Shift_Ins_p.S311fs|IKZF2_uc002vel.3_Frame_Shift_Ins_p.S306fs|IKZF2_uc010fuw.3_Frame_Shift_Ins_p.S159fs|IKZF2_uc010fux.3_Frame_Shift_Ins_p.S159fs|IKZF2_uc010fuy.3_Frame_Shift_Ins_p.S313fs|IKZF2_uc002ven.3_Frame_Shift_Ins_p.S359fs|IKZF2_uc002vei.3_Frame_Shift_Ins_p.S163fs	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	385					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)		GTCTGATGAGAGAGATGGGGCC	0.485													G	213872512	-	G	213872511	7	5	272	1	0	1	1	0	0	0	0	0	7615	942	33	0	430	0	IKZF2	2	213872511	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	2405533	213872511	29326862	326	135437											
BARD1	580	broad.mit.edu	37	chr2	215593504	215593504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctctctgggtgataatTacacaaatcttcatagatga	6	9	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:215593504T>C	uc002veu.2	-	11	2365	c.2230A>G	c.(2230-2232)AAT>GAT	p.N744D	BARD1_uc010zjm.1_3'UTR	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	744	BRCT 2.				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			lung(2)	2		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)		GGGTGATAATTACACAAATCT	0.478									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				C	215593504	T	C	215593504	3	2	272	1	0	0	0	0	1	0	0	0	1312	1754	61	3	107	3	BARD1	2	215593504	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1720993	215593504	27605869	327	135438											
FN1	2335	broad.mit.edu	37	chr2	216226796	216226796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggcagttgtcacagcGccagccctgagagagtagag	14	11	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:216226796G>A	uc002vfa.2	-	45	7524	c.7258C>T	c.(7258-7260)CGC>TGC	p.R2420C	FN1_uc002vfb.2_Missense_Mutation_p.R2208C|FN1_uc002vfc.2_Missense_Mutation_p.R2183C|FN1_uc002vfd.2_Missense_Mutation_p.R2364C|FN1_uc002vfe.2_Missense_Mutation_p.R2298C|FN1_uc002vff.2_Missense_Mutation_p.R2273C|FN1_uc002vfg.2_Missense_Mutation_p.R2239C|FN1_uc002vfh.2_Missense_Mutation_p.R2119C|FN1_uc002vfi.2_Missense_Mutation_p.R2389C|FN1_uc002vfj.2_Missense_Mutation_p.R2210C|FN1_uc002vez.2_Missense_Mutation_p.R583C|FN1_uc010zjp.1_Missense_Mutation_p.R957C	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2329	Fibrin-binding 2.|Fibronectin type-I 12.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	TTGTCACAGCGCCAGCCCTGA	0.468													A	216226796	G	A	216226796	3	1	272	1	0	0	0	0	1	0	0	0	5962	1087	38	1	183	1	FN1	2	216226796	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	633292	216226796	26972577	328	135439											
FN1	2335	broad.mit.edu	37	chr2	216274362	216274363	+	Missense_Mutation	DNP	GA	GA	TT													gacacggtgtcggaagctgaGacccaggagaccacaaagct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:216274362_216274363GA>TT	uc002vfa.2	-	15	2488_2489	c.2222_2223TC>AA	c.(2221-2223)GTC>GAA	p.V741E	FN1_uc002vfb.2_Missense_Mutation_p.V741E|FN1_uc002vfc.2_Missense_Mutation_p.V741E|FN1_uc002vfd.2_Missense_Mutation_p.V741E|FN1_uc002vfe.2_Missense_Mutation_p.V741E|FN1_uc002vff.2_Missense_Mutation_p.V741E|FN1_uc002vfg.2_Missense_Mutation_p.V741E|FN1_uc002vfh.2_Missense_Mutation_p.V741E|FN1_uc002vfi.2_Missense_Mutation_p.V741E|FN1_uc002vfj.2_Missense_Mutation_p.V741E	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	741	Fibronectin type-III 2.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	CGGAAGCTGAGACCCAGGAGAC	0.54													TT	216274363	GA	TT	216274362	3	4	272	1	0	0	0	0	1	0	0	0	5962	929	33	5	5338	5	FN1	2	216274362	Missense_Mutation	DNP	GA	TCGA-HU-A4GQ-01A-11D-A25D-08	47566	216274362	26925011	329	135440											
TMEM169	92691	broad.mit.edu	37	chr2	216965029	216965029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatccagtgctcatcatgGccatggcttcttccctcggc	8	15	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:216965029G>A	uc010zjr.1	+	4	984	c.658G>A	c.(658-660)GCC>ACC	p.A220T	TMEM169_uc010zjs.1_Missense_Mutation_p.A220T|TMEM169_uc002vfw.2_Missense_Mutation_p.A220T|TMEM169_uc002vfv.3_Missense_Mutation_p.A220T	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	220	Helical; (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCATCATGGCCATGGCTTC	0.547													A	216965029	G	A	216965029	3	1	272	1	0	0	0	0	1	0	0	0	16081	1203	42	2	664	2	TMEM169	2	216965029	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	690667	216965029	26234344	330	135441											
PNKD	25953	broad.mit.edu	37	chr2	219209543	219209543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccacagtgcccatctaccCtgggagaggagcgctcctac	10	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:219209543C>A	uc002vhn.2	+	10	1141	c.997C>A	c.(997-999)CTG>ATG	p.L333M	PNKD_uc002vhq.2_Missense_Mutation_p.L309M	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	333						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		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)		CCCATCTACCCTGGGAGAGGA	0.632													A	219209543	C	A	219209543	3	1	272	1	0	0	0	0	1	0	0	0	12146	680	24	5	1400	5	PNKD	2	219209543	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2244514	219209543	23989830	331	135442											
VIL1	7429	broad.mit.edu	37	chr2	219295520	219295520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatggggctgagtcggccGtctttcagcagctcttccag	13	11	3	2	rs150670051		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:219295520G>A	uc002via.2	+	10	1086	c.1021G>A	c.(1021-1023)GTC>ATC	p.V341I	VIL1_uc010zke.1_Missense_Mutation_p.V30I|VIL1_uc002vib.2_Missense_Mutation_p.V341I|VIL1_uc002vic.1_Missense_Mutation_p.V341I	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	341	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			ovary(1)	1		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)		TGAGTCGGCCGTCTTTCAGCA	0.602													A	219295520	G	A	219295520	3	1	272	1	0	0	0	0	1	0	0	0	17161	1145	40	1	1055	1	VIL1	2	219295520	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	85977	219295520	23903853	332	135443											
TTLL4	9654	broad.mit.edu	37	chr2	219614783	219614783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggccagatgattcgTgaccttctgaatctggcagg	11	9	3	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:219614783T>C	uc002viy.2	+	15	3157	c.2787T>C	c.(2785-2787)CGT>CGC	p.R929R	TTLL4_uc010zkl.1_Silent_p.R764R|TTLL4_uc010fvx.2_Silent_p.R865R|TTLL4_uc010zkm.1_Silent_p.R132R	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	929	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		AGATGATTCGTGACCTTCTGA	0.512													C	219614783	T	C	219614783	2	2	272	1	0	0	0	0	0	0	0	1	16726	1683	59	3		3	TTLL4	2	219614783	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	319263	219614783	23584590	333	135444											
ATG9A	79065	broad.mit.edu	37	chr2	220088634	220088634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaactcgtcccgggtctgcGagcggtgggcattaccctgc	13	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:220088634G>A	uc002vke.1	-	9	1562	c.1376C>T	c.(1375-1377)TCG>TTG	p.S459L	ATG9A_uc002vkd.1_Intron|ATG9A_uc002vkf.1_Missense_Mutation_p.S459L	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	459	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGGTCTGCGAGCGGTGGGC	0.612													A	220088634	G	A	220088634	3	1	272	1	0	0	0	0	1	0	0	0	1102	1059	37	1	1175	1	ATG9A	2	220088634	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	473851	220088634	23110739	334	135445											
SPEG	10290	broad.mit.edu	37	chr2	220348545	220348545	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccaccaccagcccccactCgagaaccggggcctgcaaaa	8	20	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:220348545C>T	uc010fwg.2	+	30	6360	c.6360C>T	c.(6358-6360)CTC>CTT	p.L2120L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2120					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		AGCCCCCACTCGAGAACCGGG	0.587													T	220348545	C	T	220348545	2	4	272	1	0	0	0	0	0	0	0	1	15035	871	31	1		1	SPEG	2	220348545	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	259911	220348545	22850828	335	135446											
KIAA1486	57624	broad.mit.edu	37	chr2	226378307	226378307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacccaagagggaccccAgcaccaagctgagcacctca	8	17	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:226378307A>G	uc002voe.2	+	3	617	c.442A>G	c.(442-444)AGC>GGC	p.S148G	KIAA1486_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	148										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GAGGGACCCCAGCACCAAGCT	0.572													G	226378307	A	G	226378307	3	3	272	1	0	0	0	0	1	0	0	0	8237	188	7	3	448	3	KIAA1486	2	226378307	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	6029762	226378307	16821066	336	135447											
RHBDD1	84236	broad.mit.edu	37	chr2	227773542	227773542	+	Frame_Shift_Del	DEL	T	T	-													tttcttttacgtttaggcggTttttcctccagtgttggtta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:227773541_227773541GT>G	uc021vxo.1	+	6	1183	c.659_659GT>G	c.(658-660)ggtfs	p.G220fs	RHBDD1_uc002voi.3_Frame_Shift_Del_p.G220fs|RHBDD1_uc010fxc.3_Frame_Shift_Del_p.G220fs|RHBDD1_uc002voj.3_Frame_Shift_Del_p.G51fs	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	220						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CGTTTAGGCGGTTTTTCCTCC	0.328													-	227773542	T	-	227773542	7	5	272	1	0	1	0	1	0	0	0	0	13316	1712	60	0	674	0	RHBDD1	2	227773542	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1395235	227773542	15425831	337	135448											
COL4A3	1285	broad.mit.edu	37	chr2	228173957	228173957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcgatcgccatagccGttcacagccaaaccactgac	8	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:228173957G>A	uc002vom.1	+	50	4840	c.4678G>A	c.(4678-4680)GTT>ATT	p.V1560I	COL4A3_uc002von.1_Missense_Mutation_p.V1560I|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1560	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			skin(2)|ovary(1)	3		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)		CGCCATAGCCGTTCACAGCCA	0.483													A	228173957	G	A	228173957	3	1	272	1	0	0	0	0	1	0	0	0	3691	1145	40	1	4876	1	COL4A3	2	228173957	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	400415	228173957	15025416	338	135449											
SPHKAP	80309	broad.mit.edu	37	chr2	228882972	228882972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaccacttctggactgGctgaccgttggggacctttg	14	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:228882972G>A	uc002vpq.2	-	7	2645	c.2598C>T	c.(2596-2598)AGC>AGT	p.S866S	SPHKAP_uc002vpp.2_Silent_p.S866S|SPHKAP_uc010zlx.1_Silent_p.S866S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	866						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		TTCTGGACTGGCTGACCGTTG	0.488													A	228882972	G	A	228882972	2	1	272	1	0	0	0	0	0	0	0	1	15047	1194	42	2		2	SPHKAP	2	228882972	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	709015	228882972	14316401	339	135450											
DNER	92737	broad.mit.edu	37	chr2	230456366	230456366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtaggcagtgtcaccGttgcctgagagcgaggcagg	17	10	1	1	rs143332732	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:230456366G>A	uc002vpv.2	-	2	662	c.515C>T	c.(514-516)ACG>ATG	p.T172M		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	172	Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGTGTCACCGTTGCCTGAGA	0.527													A	230456366	G	A	230456366	3	1	272	1	0	0	0	0	1	0	0	0	4667	1145	40	1	1746	1	DNER	2	230456366	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1573394	230456366	12743007	340	135451											
GPR55	9290	broad.mit.edu	37	chr2	231775353	231775353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagcagatggtgaagaCgcttccgtacatgctgacga	13	8	0	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:231775353C>T	uc002vrg.2	-	2	518	c.325G>A	c.(325-327)GTC>ATC	p.V109I	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.V109I	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	109	Helical; Name=3; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ATGGTGAAGACGCTTCCGTAC	0.582													T	231775353	C	T	231775353	3	4	272	1	0	0	0	0	1	0	0	0	6699	536	19	1	638	1	GPR55	2	231775353	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1318987	231775353	11424020	341	135452											
DIS3L2	129563	broad.mit.edu	37	chr2	232880239	232880239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaggtgtgtctgctgtggCtggtccacatgacattggtg	14	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:232880239C>T	uc010fxz.2	+	3	344	c.68C>T	c.(67-69)GCT>GTT	p.A23V	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.A23V	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	23							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		TCTGCTGTGGCTGGTCCACAT	0.403													T	232880239	C	T	232880239	3	4	272	1	0	0	0	0	1	0	0	0	4537	797	28	2	74	2	DIS3L2	2	232880239	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1104886	232880239	10319134	342	135453											
DIS3L2	129563	broad.mit.edu	37	chr2	233199145	233199145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggaccactgtaacgaccGccgcatggcgtccaagcgcg	14	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:233199145G>A	uc010fxz.2	+	18	2501	c.2225G>A	c.(2224-2226)CGC>CAC	p.R742H	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	742							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		TGTAACGACCGCCGCATGGCG	0.617													A	233199145	G	A	233199145	3	1	272	1	0	0	0	0	1	0	0	0	4537	1087	38	1	2291	1	DIS3L2	2	233199145	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	318906	233199145	10000228	343	135454											
DGKD	8527	broad.mit.edu	37	chr2	234365952	234365952	+	Frame_Shift_Del	DEL	G	G	-													tgccggaggaaccaacttctGggggggtaccaaggaagatg					rs35538077		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234365951_234365951TG>T	uc002vui.1	+	20	2569	c.2557_2557TG>T	c.(2557-2559)tggfs	p.W853fs	DGKD_uc002vuj.1_Frame_Shift_Del_p.W809fs|DGKD_uc010fyh.1_Frame_Shift_Del_p.W720fs|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	853					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)	AACCAACTTCTGGGGGGGTAC	0.577													-	234365952	G	-	234365952	7	5	272	1	0	1	0	1	0	0	0	0	4467	1357	47	0	2664	0	DGKD	2	234365952	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1166807	234365952	8833421	344	135455											
UGT1A5	54579	broad.mit.edu	37	chr2	234622259	234622259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcagaccacatgacattcCtgcaaagggtcaagaacatg	8	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234622259C>A	uc002vuw.2	+	1	622	c.622C>A	c.(622-624)CTG>ATG	p.L208M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.L208M	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	208					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		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)		CATGACATTCCTGCAAAGGGT	0.463													A	234622259	C	A	234622259	3	1	272	1	0	0	0	0	1	0	0	0	16945	680	24	5	624	5	UGT1A5	2	234622259	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	256307	234622259	8577114	345	135456											
UGT1A4	54657	broad.mit.edu	37	chr2	234627640	234627640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgccagaggccaccaggcGgtggtcctcaccccagaggt	13	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234627640G>A	uc002vux.2	+	1	203	c.174G>A	c.(172-174)GCG>GCA	p.A58A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.A58A	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	58					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		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;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	GCCACCAGGCGGTGGTCCTCA	0.577													A	234627640	G	A	234627640	2	1	272	1	0	0	0	0	0	0	0	1	16944	1103	39	1		1	UGT1A4	2	234627640	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5381	234627640	8571733	346	135457											
DNAJB3	414061	broad.mit.edu	37	chr2	234652344	234652344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgtgcagccgccctcCgcccccgcctcgccatagcg	10	23	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234652344C>T	uc002vuz.2	-	1	318	c.219G>A	c.(217-219)GCG>GCA	p.A73A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	73					protein folding		heat shock protein binding|unfolded protein binding				0						AGCCGCCCTCCGCCCCCGCCT	0.647													T	234652344	C	T	234652344	2	4	272	1	0	0	0	0	0	0	0	1	4621	639	23	1		1	DNAJB3	2	234652344	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	24704	234652344	8547029	347	135458											
UGT1A5	54579	broad.mit.edu	37	chr2	234676526	234676526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacactggaacccgaccatCgaatcttgcgaacaacacga	8	13	1	0	rs144978321		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234676526C>T	uc002vuw.2	+	3	1031	c.1031C>T	c.(1030-1032)TCG>TTG	p.S344L	UGT1A8_uc010zmv.1_Missense_Mutation_p.S340L|UGT1A8_uc002vup.2_Missense_Mutation_p.S340L|UGT1A10_uc002vuq.3_Missense_Mutation_p.S340L|UGT1A10_uc002vur.2_Missense_Mutation_p.S340L|UGT1A9_uc010zmw.1_Missense_Mutation_p.S340L|UGT1A9_uc002vus.2_Missense_Mutation_p.S340L|UGT1A7_uc010zmx.1_Missense_Mutation_p.S340L|UGT1A7_uc002vut.2_Missense_Mutation_p.S340L|UGT1A6_uc002vuu.2_Missense_Mutation_p.S75L|UGT1A6_uc010zmy.1_Missense_Mutation_p.S342L|UGT1A6_uc002vuv.3_Missense_Mutation_p.S342L|UGT1A5_uc010zmz.1_Missense_Mutation_p.S344L|UGT1A4_uc010zna.1_Missense_Mutation_p.S344L|UGT1A4_uc002vux.2_Missense_Mutation_p.S344L|UGT1A3_uc010znb.1_Missense_Mutation_p.S344L|UGT1A3_uc002vuy.2_Missense_Mutation_p.S344L|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Missense_Mutation_p.S343L|UGT1A1_uc002vvb.2_Missense_Mutation_p.S343L	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	344					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		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)		ACCCGACCATCGAATCTTGCG	0.448													T	234676526	C	T	234676526	3	4	272	1	0	0	0	0	1	0	0	0	16945	893	31	1	1041	1	UGT1A5	2	234676526	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	24182	234676526	8522847	348	135459											
AGAP1	116987	broad.mit.edu	37	chr2	236626247	236626247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtctgccctggtgcaccGgtacctgacgggcacatatg	12	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:236626247G>A	uc002vvs.2	+	3	864	c.269G>A	c.(268-270)CGG>CAG	p.R90Q	AGAP1_uc002vvt.2_Missense_Mutation_p.R90Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	90	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CTGGTGCACCGGTACCTGACG	0.463													A	236626247	G	A	236626247	3	1	272	1	0	0	0	0	1	0	0	0	366	1116	39	1	279	1	AGAP1	2	236626247	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1949721	236626247	6573126	349	135460											
CXCR7	57007	broad.mit.edu	37	chr2	237490003	237490003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttcacggccctgcatGtcacacagtgcctgtcgctg	9	17	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:237490003G>A	uc010fyq.2	+	3	1125	c.895G>A	c.(895-897)GTC>ATC	p.V299I	CXCR7_uc002vwd.2_Missense_Mutation_p.V299I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	299	Helical; Name=7; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GGCCCTGCATGTCACACAGTG	0.582													A	237490003	G	A	237490003	3	1	272	1	0	0	0	0	1	0	0	0	4096	1377	48	4	897	4	CXCR7	2	237490003	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	863756	237490003	5709370	350	135461											
COL6A3	1293	broad.mit.edu	37	chr2	238296700	238296700	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aactggaccacccccactcgGatctgctgagttccaattgg	9	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:238296700G>C	uc002vwl.2	-	4	1122	c.837C>G	c.(835-837)ATC>ATG	p.I279M	COL6A3_uc002vwo.2_Missense_Mutation_p.I73M|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.I73M|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.I279M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	279	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		CCCCCACTCGGATCTGCTGAG	0.502													C	238296700	G	C	238296700	3	2	272	1	0	0	0	0	1	0	0	0	3701	1164	41	5	8907	5	COL6A3	2	238296700	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	806697	238296700	4902673	351	135462											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239237867	239237867	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagactgagagacagggacCgagagcgcgaccgggacaaa	16	9	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:239237867C>T	uc002vye.2	+	5	918	c.799C>T	c.(799-801)CGA>TGA	p.R267*	TRAF3IP1_uc002vyf.2_Nonsense_Mutation_p.R267*	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	267	Abolishes microtubules-binding when missing.|DISC1-interaction domain.|Arg-rich.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		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)		agacagggaccgagagcgcga	0.114													T	239237867	C	T	239237867	4	4	272	1	0	0	0	0	0	1	0	0	16437	644	23	1	817	1	TRAF3IP1	2	239237867	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	941167	239237867	3961506	352	135463											
HDAC4	9759	broad.mit.edu	37	chr2	240111758	240111758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccacttgcagaggcagcGccgtggccacatccactgtg	14	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:240111758G>A	uc002vyk.3	-	4	902	c.110C>T	c.(109-111)GCG>GTG	p.A37V	HDAC4_uc010fyz.1_Missense_Mutation_p.A32V|HDAC4_uc010zoa.1_Missense_Mutation_p.A32V|HDAC4_uc010fza.2_Missense_Mutation_p.A37V|HDAC4_uc002vyl.1_RNA|HDAC4_uc010fyy.2_5'UTR	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	37					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			breast(3)|skin(2)|ovary(1)	6		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)		CAGAGGCAGCGCCGTGGCCAC	0.677													A	240111758	G	A	240111758	3	1	272	1	0	0	0	0	1	0	0	0	7009	1087	38	1	3240	1	HDAC4	2	240111758	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	873891	240111758	3087615	353	135464											
CAPN10	11132	broad.mit.edu	37	chr2	241534459	241534459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaggctgctctgccataCgcgggcgctgcctggggcct	16	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241534459C>T	uc002vzk.1	+	7	1200	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M	CAPN10_uc010zoh.1_Missense_Mutation_p.T339M|CAPN10_uc002vzl.1_Missense_Mutation_p.T339M|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.T211M|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	339	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			ovary(3)|large_intestine(2)|lung(1)	6		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)		CTCTGCCATACGCGGGCGCTG	0.642													T	241534459	C	T	241534459	3	4	272	1	0	0	0	0	1	0	0	0	2623	536	19	1	1042	1	CAPN10	2	241534459	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1422701	241534459	1664914	354	135465											
CAPN10	11132	broad.mit.edu	37	chr2	241537333	241537333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggaaggagccaggacgCacccccactgctgctgcagg	16	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241537333C>T	uc002vzk.1	+	10	1956	c.1772C>T	c.(1771-1773)GCA>GTA	p.A591V	CAPN10_uc002vzl.1_Missense_Mutation_p.A436V|CAPN10_uc002vzm.1_Missense_Mutation_p.A57V|CAPN10_uc002vzn.1_Missense_Mutation_p.A463V|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	591	Domain III 2.				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			ovary(3)|large_intestine(2)|lung(1)	6		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)		AGCCAGGACGCACCCCCACTG	0.687													T	241537333	C	T	241537333	3	4	272	1	0	0	0	0	1	0	0	0	2623	710	25	2	1810	2	CAPN10	2	241537333	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2874	241537333	1662040	355	135466											
AGXT	189	broad.mit.edu	37	chr2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgactggagagacatcGtcagctacgtcatagaccac	10	11	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241817502G>A	uc002waa.3	+	10	1127	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I	AGXT_uc002wab.3_Missense_Mutation_p.V214I	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1).		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				0		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)	GAGAGACATCGTCAGCTACGT	0.617													A	241817502	G	A	241817502	3	1	272	1	0	0	0	0	1	0	0	0	404	1145	40	1	1044	1	AGXT	2	241817502	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	280169	241817502	1381871	356	135467											
C2orf54	79919	broad.mit.edu	37	chr2	241826549	241826549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcatggcagagatccGgtccttatcctggatgttga	12	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241826549G>A	uc002wae.3	-	5	1441	c.1282C>T	c.(1282-1284)CGG>TGG	p.R428W	C2orf54_uc002wac.2_Missense_Mutation_p.R260W|C2orf54_uc002wad.2_Missense_Mutation_p.R279W	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	428											0		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)		GCAGAGATCCGGTCCTTATCC	0.592													A	241826549	G	A	241826549	3	1	272	1	0	0	0	0	1	0	0	0	2175	1115	39	1	65	1	C2orf54	2	241826549	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9047	241826549	1372824	357	135468											
ATG4B	23192	broad.mit.edu	37	chr2	242606145	242606145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcaacggattccctgcCggagctgaggtcaccaacag	11	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242606145C>T	uc002wbv.2	+	8	727	c.624C>T	c.(622-624)GCC>GCT	p.A208A	ATG4B_uc002wbu.2_Silent_p.A134A|ATG4B_uc002wbw.2_Silent_p.A208A|ATG4B_uc010zox.1_Silent_p.A194A|ATG4B_uc010zoy.1_Silent_p.A134A|ATG4B_uc010fzp.2_Silent_p.A208A|ATG4B_uc010zoz.1_Silent_p.A134A|ATG4B_uc002wby.2_5'Flank	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	208					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-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;0.0848)		GATTCCCTGCCGGAGCTGAGG	0.617													T	242606145	C	T	242606145	2	4	272	1	0	0	0	0	0	0	0	1	1097	639	23	1		1	ATG4B	2	242606145	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	779596	242606145	593228	358	135469											
ATG4B	23192	broad.mit.edu	37	chr2	242608088	242608088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcgcggagcttgacccGtccatcgctgtggtacgtgg	14	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242608088G>A	uc002wbv.2	+	10	1048	c.945G>A	c.(943-945)CCG>CCA	p.P315P	ATG4B_uc002wbu.2_Silent_p.P241P|ATG4B_uc002wbw.2_Silent_p.P315P|ATG4B_uc010zox.1_Silent_p.P301P|ATG4B_uc010zoy.1_Silent_p.P241P|ATG4B_uc010fzp.2_Silent_p.P315P|ATG4B_uc010zoz.1_Silent_p.P241P|ATG4B_uc002wby.2_Silent_p.P68P	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	315					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-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;0.0848)		AGCTTGACCCGTCCATCGCTG	0.592													A	242608088	G	A	242608088	2	1	272	1	0	0	0	0	0	0	0	1	1097	1132	40	1		1	ATG4B	2	242608088	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1943	242608088	591285	359	135470											
ATG4B	23192	broad.mit.edu	37	chr2	242610802	242610802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatctggcctgccccgacGtcctgaacctgtccctaggt	9	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242610802G>A	uc002wbv.2	+	12	1193	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	ATG4B_uc002wbu.2_Missense_Mutation_p.V290I|ATG4B_uc002wbw.2_Missense_Mutation_p.V364I|ATG4B_uc010zox.1_Missense_Mutation_p.V350I|ATG4B_uc010zoy.1_Missense_Mutation_p.V290I|ATG4B_uc010fzp.2_Missense_Mutation_p.V364I|ATG4B_uc010zoz.1_Missense_Mutation_p.V290I|ATG4B_uc002wby.2_Missense_Mutation_p.V117I	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	364					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		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;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-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;0.0848)		CTGCCCCGACGTCCTGAACCT	0.607													A	242610802	G	A	242610802	3	1	272	1	0	0	0	0	1	0	0	0	1097	1145	40	1	1136	1	ATG4B	2	242610802	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2714	242610802	588571	360	135471											
GAL3ST2	64090	broad.mit.edu	37	chr2	242742903	242742903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacgcgttcctggcctcGccgcggacgttctacaacga	12	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242742903G>A	uc002wcj.1	+	4	650	c.519G>A	c.(517-519)TCG>TCA	p.S173S		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	173	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		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)		TCCTGGCCTCGCCGCGGACGT	0.632													A	242742903	G	A	242742903	2	1	272	1	0	0	0	0	0	0	0	1	6198	1074	38	1		1	GAL3ST2	2	242742903	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	132101	242742903	456470	361	135472											
GRM7	2917	broad.mit.edu	37	chr3	7456819	7456819	+	Frame_Shift_Del	DEL	A	A	-													aagttgacgattagtgggtcAaaaaaagaagacacagatcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:7456818_7456818CA>C	uc003bqm.2	+	4	1416	c.1142_1142CA>C	c.(1141-1143)tcafs	p.S381fs	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bql.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	381					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	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.S381T(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)	ATTAGTGGGTCAAAAAAAGAA	0.423													-	7456819	A	-	7456819	7	5	272	1	0	1	0	1	0	0	0	0	6802	117	5	0	1161	0	GRM7	3	7456819	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08		7456819	190565611	362	135473											
LHFPL4	375323	broad.mit.edu	37	chr3	9547708	9547708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgccggttgcccagcaCgaaggcgaggaaggagagga	17	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9547708C>T	uc003bry.2	-	3	872	c.586G>A	c.(586-588)GTG>ATG	p.V196M		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	196	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					TTGCCCAGCACGAAGGCGAGG	0.647													T	9547708	C	T	9547708	3	4	272	1	0	0	0	0	1	0	0	0	8767	536	19	1	165	1	LHFPL4	3	9547708	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2090889	9547708	188474722	363	135474											
LHFPL4	375323	broad.mit.edu	37	chr3	9594083	9594083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacgaagaaggcggccGccttgaaggcgctggacggg	18	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9594083G>A	uc003bry.2	-	2	567	c.281C>T	c.(280-282)GCG>GTG	p.A94V		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	94						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					GAAGGCGGCCGCCTTGAAGGC	0.622													A	9594083	G	A	9594083	3	1	272	1	0	0	0	0	1	0	0	0	8767	1087	38	1	474	1	LHFPL4	3	9594083	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	46375	9594083	188428347	364	135475											
MTMR14	64419	broad.mit.edu	37	chr3	9710417	9710417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcacatttgcaggtcGgccacactggctggatgggg	14	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9710417G>A	uc003brz.2	+	4	556	c.432G>A	c.(430-432)TCG>TCA	p.S144S	MTMR14_uc003bsa.2_Silent_p.S144S|MTMR14_uc003bsb.2_Silent_p.S144S|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	144						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					TTTGCAGGTCGGCCACACTGG	0.478													A	9710417	G	A	9710417	2	1	272	1	0	0	0	0	0	0	0	1	9942	1103	39	1		1	MTMR14	3	9710417	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	116334	9710417	188312013	365	135476											
OGG1	4968	broad.mit.edu	37	chr3	9807580	9807580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagaaggcccccctatcGggagaggggattcacaaggt	14	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9807580G>A	uc003bsm.2	+	7	1379	c.1036G>A	c.(1036-1038)GGG>AGG	p.G346R	OGG1_uc003bsk.2_3'UTR|OGG1_uc003bsl.2_3'UTR|OGG1_uc003bsn.2_Missense_Mutation_p.G279R|OGG1_uc003bso.2_3'UTR|CAMK1_uc003bst.2_Intron|CAMK1_uc003bsu.2_Intron	NM_016821	NP_058214	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 2a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					CCCCCCTATCGGGAGAGGGGA	0.582								BER_DNA_glycosylases					A	9807580	G	A	9807580	3	1	272	1	0	0	0	0	1	0	0	0	10845	1116	39	1	1482	1	OGG1	3	9807580	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	97163	9807580	188214850	366	135477											
TADA3	10474	broad.mit.edu	37	chr3	9822135	9822135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagtccgcttcttctgcCgggcagccatgatcttgcga	13	12	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9822135C>T	uc003bsx.1	-	9	1753	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	TADA3_uc010hcn.1_Missense_Mutation_p.R402Q|TADA3_uc003bsw.1_Missense_Mutation_p.R231Q	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	402	Potential.				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						CTTCTTCTGCCGGGCAGCCAT	0.602													T	9822135	C	T	9822135	3	4	272	1	0	0	0	0	1	0	0	0	15509	652	23	1	97	1	TADA3	3	9822135	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	14555	9822135	188200295	367	135478											
ATP2B2	491	broad.mit.edu	37	chr3	10387187	10387187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccacatcactgccttgaCgatgctgctgaaattgtcgt	9	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:10387187C>T	uc003bvt.2	-	18	3023	c.2584G>A	c.(2584-2586)GTC>ATC	p.V862I	ATP2B2_uc003bvv.2_Missense_Mutation_p.V817I|ATP2B2_uc003bvw.2_Missense_Mutation_p.V817I|ATP2B2_uc010hdo.2_Missense_Mutation_p.V567I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	862	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACTGCCTTGACGATGCTGCTG	0.577													T	10387187	C	T	10387187	3	4	272	1	0	0	0	0	1	0	0	0	1140	536	19	1	1171	1	ATP2B2	3	10387187	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	565052	10387187	187635243	368	135479											
IQSEC1	9922	broad.mit.edu	37	chr3	12978054	12978054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttggacagcacaatccgGcgtgacatgcggttctctga	12	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:12978054G>A	uc003bxt.2	-	3	513	c.504C>T	c.(502-504)CGC>CGT	p.R168R	IQSEC1_uc003bxu.3_Silent_p.R46R|IQSEC1_uc011auw.1_Silent_p.R154R	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	168					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						GCACAATCCGGCGTGACATGC	0.572													A	12978054	G	A	12978054	2	1	272	1	0	0	0	0	0	0	0	1	7817	1190	42	2		2	IQSEC1	3	12978054	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2590867	12978054	185044376	369	135480											
NUP210	23225	broad.mit.edu	37	chr3	13363234	13363234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtggagaagtggctgcTggagagggaggcactgacca	17	8	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:13363234T>C	uc003bxv.1	-	36	5100	c.5017A>G	c.(5017-5019)AGC>GGC	p.S1673G		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1673	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AAGTGGCTGCTGGAGAGGGAG	0.582													C	13363234	T	C	13363234	3	2	272	1	0	0	0	0	1	0	0	0	10760	1580	55	3	666	3	NUP210	3	13363234	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	385180	13363234	184659196	370	135481											
NUP210	23225	broad.mit.edu	37	chr3	13367348	13367348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtaaaccgtcacggatcCcacggcccgggccacagcca	10	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:13367348C>T	uc003bxv.1	-	33	4674	c.4591G>A	c.(4591-4593)GGA>AGA	p.G1531R		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1531	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GTCACGGATCCCACGGCCCGG	0.632													T	13367348	C	T	13367348	3	4	272	1	0	0	0	0	1	0	0	0	10760	632	22	4	1104	4	NUP210	3	13367348	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4114	13367348	184655082	371	135482											
HDAC11	79885	broad.mit.edu	37	chr3	13538284	13538284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatcccccccgttatcttcCtccccaacttccttgtgcag	4	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:13538284C>A	uc003bxy.2	+	4	434	c.301C>A	c.(301-303)CTC>ATC	p.L101I	HDAC11_uc010heb.2_Missense_Mutation_p.L73I|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Missense_Mutation_p.L73I|HDAC11_uc011auy.1_Intron	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	101	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			ovary(2)	2						CGTTATCTTCCTCCCCAACTT	0.602											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	13538284	C	A	13538284	3	1	272	1	0	0	0	0	1	0	0	0	7006	681	24	5	315	5	HDAC11	3	13538284	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	170936	13538284	184484146	372	135483											
C3orf19	51244	broad.mit.edu	37	chr3	14709017	14709017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaccttagagatgctgCgtgaacaggtacagataaat	10	6	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:14709017C>T	uc003byw.2	+	8	902	c.811C>T	c.(811-813)CGT>TGT	p.R271C	C3orf19_uc010hej.2_Intron	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	271	Potential.										0						AGAGATGCTGCGTGAACAGGT	0.438													T	14709017	C	T	14709017	3	4	272	1	0	0	0	0	1	0	0	0	2212	768	27	1	841	1	C3orf19	3	14709017	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1170733	14709017	183313413	373	135484											
GALNTL2	117248	broad.mit.edu	37	chr3	16254232	16254232	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcattcaaagaaaccTtctacaagcatagcccagag	9	10	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:16254232T>G	uc003car.3	+	6	1829	c.1354T>G	c.(1354-1356)TTC>GTC	p.F452V	GALNTL2_uc003caq.3_Missense_Mutation_p.F185V	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	452	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CAAAGAAACCTTCTACAAGCA	0.572													G	16254232	T	G	16254232	3	3	272	1	0	0	0	0	1	0	0	0	6222	1609	56	5	1376	5	GALNTL2	3	16254232	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1545215	16254232	181768198	374	135485											
KCNH8	131096	broad.mit.edu	37	chr3	19554728	19554728	+	Frame_Shift_Del	DEL	C	C	-													aaaaccaagcaggaaattgaCccccccaaccataataaaag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:19554727_19554727AC>A	uc003cbk.1	+	12	2540	c.2345_2345AC>A	c.(2344-2346)gacfs	p.D782fs	KCNH8_uc010hex.1_Frame_Shift_Del_p.D243fs	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	782						integral to membrane	two-component sensor activity	p.N785fs*3(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						CAGGAAATTGACCCCCCCAAC	0.473													-	19554728	C	-	19554728	7	5	272	1	0	1	0	1	0	0	0	0	8038	506	18	0	2396	0	KCNH8	3	19554728	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3300496	19554728	178467702	375	135486											
DCLK3	85443	broad.mit.edu	37	chr3	36756949	36756949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggtgctgaagaaccTgatgagctgtgtagcgcttt	14	8	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:36756949T>C	uc003cgi.2	-	5	2308	c.1817A>G	c.(1816-1818)CAG>CGG	p.Q606R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	606	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						CTGAAGAACCTGATGAGCTGT	0.537													C	36756949	T	C	36756949	3	2	272	1	0	0	0	0	1	0	0	0	4293	1580	55	3	133	3	DCLK3	3	36756949	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	17202221	36756949	161265481	376	135487											
SCN10A	6336	broad.mit.edu	37	chr3	38748813	38748813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcttggagcccaacTtcttcatggcattgtagtat	11	9	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:38748813T>G	uc003ciq.2	-	25	4343	c.4343A>C	c.(4342-4344)AAG>ACG	p.K1448T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1448					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	GGAGCCCAACTTCTTCATGGC	0.532													G	38748813	T	G	38748813	3	3	272	1	0	0	0	0	1	0	0	0	13912	1609	56	5	1539	5	SCN10A	3	38748813	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1991864	38748813	159273617	377	135488											
TTC21A	199223	broad.mit.edu	37	chr3	39177934	39177936	+	In_Frame_Del	DEL	AAG	AAG	-													ctgccttctttgaattggccAagaaggtgtctagccgggtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:39177933_39177935CAAG>C	uc003cjc.2	+	22	3228_3230	c.3051_3053CAAG>C	c.(3049-3054)gccaag>gcCg	p.K1019del	TTC21A_uc011ayx.1_In_Frame_Del_p.K971del|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_In_Frame_Del_p.K140del	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	1019							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)		TTGAATTGGCCAAGAAGGTGTCT	0.438													-	39177936	AAG	-	39177934	7	5	272	1	0	1	0	1	0	0	0	0	16684	131	5	0	3145	0	TTC21A	3	39177934	In_Frame_Del	DEL	AAG	TCGA-HU-A4GQ-01A-11D-A25D-08	429121	39177934	158844496	378	135489											
SLC25A38	54977	broad.mit.edu	37	chr3	39431957	39431957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtactcttgaaggtggttCgcacggagagtcttttgggc	14	8	2	2	rs147819123		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:39431957C>T	uc003cjo.2	+	3	636	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	79	Solcar 1.				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAGGTGGTTCGCACGGAGAG	0.473													T	39431957	C	T	39431957	3	4	272	1	0	0	0	0	1	0	0	0	14502	884	31	1	245	1	SLC25A38	3	39431957	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	254023	39431957	158590473	379	135490											
CCDC13	152206	broad.mit.edu	37	chr3	42777361	42777361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgcgttttctcctcctgCagactcaggctgcctaggat	9	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:42777361C>T	uc003cly.3	-	10	1293	c.1209G>A	c.(1207-1209)CTG>CTA	p.L403L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	403	Potential.									ovary(1)	1						TCTCCTCCTGCAGACTCAGGC	0.642													T	42777361	C	T	42777361	2	4	272	1	0	0	0	0	0	0	0	1	2765	697	25	2		2	CCDC13	3	42777361	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3345404	42777361	155245069	380	135491											
ZNF197	10168	broad.mit.edu	37	chr3	44684836	44684837	+	Frame_Shift_Ins	INS	-	-	T													aagcctacaaatgtgaggatINStgtgggaaggctttcagtta					rs115498440	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:44684835_44684836A>AT	uc003cnm.3	+	5	2419_2420	c.2213_2214A>AT	c.(2212-2214)gatfs	p.D738fs	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	738					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)		AAATGTGAGGATTGTGGGAAGG	0.421													T	44684837	-	T	44684836	7	5	272	1	0	1	1	0	0	0	0	0	17756	1490	52	0	2232	0	ZNF197	3	44684836	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1907475	44684836	153337594	381	135492											
KIAA1143	57456	broad.mit.edu	37	chr3	44803061	44803061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaacgccggctcggctgGccgcacgtacgatacctggt	13	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:44803061G>A	uc011bac.1	-	1	113	c.34C>T	c.(34-36)CCA>TCA	p.P12S	KIF15_uc003cnx.3_5'Flank|KIF15_uc010hiq.2_5'Flank	NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	12											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		GGCTCGGCTGGCCGCACGTAC	0.597													A	44803061	G	A	44803061	3	1	272	1	0	0	0	0	1	0	0	0	8209	1203	42	2	442	2	KIAA1143	3	44803061	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	118225	44803061	153219369	382	135493											
LIMD1	8994	broad.mit.edu	37	chr3	45636836	45636836	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttccagggagagcctggcGacttctgagatgtctgcttt	14	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:45636836G>A	uc003coq.2	+	1	514	c.465G>A	c.(463-465)GCG>GCA	p.A155A		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	155					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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGAGCCTGGCGACTTCTGAGA	0.602													A	45636836	G	A	45636836	2	1	272	1	0	0	0	0	0	0	0	1	8798	1045	37	1		1	LIMD1	3	45636836	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	833775	45636836	152385594	383	135494											
SACM1L	22908	broad.mit.edu	37	chr3	45785048	45785048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacttggacagaaacactgGcctatgtgctcttctgggga	11	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:45785048G>A	uc003cos.2	+	20	1855	c.1651G>A	c.(1651-1653)GCC>ACC	p.A551T	SACM1L_uc011bag.1_Missense_Mutation_p.A448T|SACM1L_uc011bah.1_Missense_Mutation_p.A485T|SACM1L_uc003cot.2_Missense_Mutation_p.A194T	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	551	Helical; (Potential).					Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		AGAAACACTGGCCTATGTGCT	0.393													A	45785048	G	A	45785048	3	1	272	1	0	0	0	0	1	0	0	0	13803	1203	42	2	1729	2	SACM1L	3	45785048	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	148212	45785048	152237382	384	135495											
FYCO1	79443	broad.mit.edu	37	chr3	46009504	46009504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctccaggctggcccggGcatcctctttcagctgaagc	13	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:46009504G>A	uc003cpb.3	-	8	1528	c.1322C>T	c.(1321-1323)GCC>GTC	p.A441V	FYCO1_uc011bal.1_Missense_Mutation_p.A441V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	441	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGGCCCGGGCATCCTCTTT	0.612													A	46009504	G	A	46009504	3	1	272	1	0	0	0	0	1	0	0	0	6125	1203	42	2	3158	2	FYCO1	3	46009504	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	224456	46009504	152012926	385	135496											
CCR1	1230	broad.mit.edu	37	chr3	46245605	46245605	+	Frame_Shift_Del	DEL	T	T	-													ggaggtagatgctggtcatgTtttttagcctcttgtattgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:46245604_46245604GT>G	uc003cph.1	-	1	272	c.201_201AC>C	c.(199-201)aacfs	p.N67fs	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Frame_Shift_Del_p.N67fs	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	67					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGCTGGTCATGTTTTTTAGCC	0.502													-	46245605	T	-	46245605	7	5	272	1	0	1	0	1	0	0	0	0	2939	1725	60	0	871	0	CCR1	3	46245605	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	236101	46245605	151776825	386	135497											
KLHL18	23276	broad.mit.edu	37	chr3	47378211	47378211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacaacccggagacagacaCatggaccagagtggggagca	13	11	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:47378211C>T	uc003crd.2	+	7	1211	c.1085C>T	c.(1084-1086)ACA>ATA	p.T362I	KLHL18_uc003crc.2_Missense_Mutation_p.T362I|KLHL18_uc011bav.1_Missense_Mutation_p.T250I|KLHL18_uc010hjq.1_Missense_Mutation_p.T218I	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	362	Kelch 2.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAGACAGACACATGGACCAGA	0.577													T	47378211	C	T	47378211	3	4	272	1	0	0	0	0	1	0	0	0	8373	478	17	4	1111	4	KLHL18	3	47378211	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1132606	47378211	150644219	387	135498											
SCAP	22937	broad.mit.edu	37	chr3	47461185	47461185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgccaatccagacaaCggtgccagcctgcagtgggg	14	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:47461185C>T	uc003crh.1	-	13	1828	c.1573G>A	c.(1573-1575)GTT>ATT	p.V525I	SCAP_uc011baz.1_Missense_Mutation_p.V270I|SCAP_uc003crg.2_Missense_Mutation_p.V133I	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	525	Helical; Name=7; (Potential).				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ATCCAGACAACGGTGCCAGCC	0.632													T	47461185	C	T	47461185	3	4	272	1	0	0	0	0	1	0	0	0	13877	536	19	1	2310	1	SCAP	3	47461185	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	82974	47461185	150561245	388	135499											
PLXNB1	5364	broad.mit.edu	37	chr3	48451076	48451076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtacttcacagcgagcgGcacggggcggctggtgctga	17	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48451076G>A	uc003csw.2	-	33	6112	c.5842C>T	c.(5842-5844)CCG>TCG	p.P1948S	PLXNB1_uc003cst.2_Missense_Mutation_p.P398S|PLXNB1_uc003csu.2_Missense_Mutation_p.P1765S|PLXNB1_uc003csx.2_Missense_Mutation_p.P1948S	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1948	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCGAGCGGCACGGGGCGG	0.582													A	48451076	G	A	48451076	3	1	272	1	0	0	0	0	1	0	0	0	12123	1203	42	2	589	2	PLXNB1	3	48451076	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	989891	48451076	149571354	389	135500											
CELSR3	1951	broad.mit.edu	37	chr3	48696881	48696881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgggaagacaggtgcatTgtcgttcacatcctgcacca	11	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48696881T>C	uc003cul.2	-	1	3468	c.3187A>G	c.(3187-3189)AAT>GAT	p.N1063D	CELSR3_uc003cuf.1_Missense_Mutation_p.N1133D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1063	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGGTGCATTGTCGTTCACA	0.552													C	48696881	T	C	48696881	3	2	272	1	0	0	0	0	1	0	0	0	3223	1812	63	3	6891	3	CELSR3	3	48696881	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	245805	48696881	149325549	390	135501											
CELSR3	1951	broad.mit.edu	37	chr3	48698957	48698957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaacagctccagcgagcGgctgttcatgagtgccgcca	13	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48698957G>A	uc003cul.2	-	1	1392	c.1111C>T	c.(1111-1113)CGC>TGC	p.R371C	CELSR3_uc003cuf.1_Missense_Mutation_p.R441C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	371	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCAGCGAGCGGCTGTTCATG	0.677													A	48698957	G	A	48698957	3	1	272	1	0	0	0	0	1	0	0	0	3223	1116	39	1	8967	1	CELSR3	3	48698957	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2076	48698957	149323473	391	135502											
CELSR3	1951	broad.mit.edu	37	chr3	48699280	48699280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggagctgtccgagactcgCggggtgctgaacctgatgca	16	11	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48699280C>T	uc003cul.2	-	1	1069	c.788G>A	c.(787-789)CGC>CAC	p.R263H	CELSR3_uc003cuf.1_Missense_Mutation_p.R333H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	263	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGAGACTCGCGGGGTGCTGA	0.731													T	48699280	C	T	48699280	3	4	272	1	0	0	0	0	1	0	0	0	3223	768	27	1	9290	1	CELSR3	3	48699280	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	323	48699280	149323150	392	135503											
QRICH1	54870	broad.mit.edu	37	chr3	49068057	49068057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtaaaaggtgtcattcCggcctttcacactctggggg	12	10	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49068057C>T	uc010hkq.2	-	11	2455	c.2159G>A	c.(2158-2160)CGG>CAG	p.R720Q	IMPDH2_uc003cvt.2_5'Flank|IMPDH2_uc010hkp.1_5'Flank|QRICH1_uc003cvu.2_Missense_Mutation_p.R720Q|QRICH1_uc003cvv.2_Missense_Mutation_p.R720Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	720										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTGTCATTCCGGCCTTTCAC	0.522													T	49068057	C	T	49068057	3	4	272	1	0	0	0	0	1	0	0	0	12879	652	23	1	175	1	QRICH1	3	49068057	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	368777	49068057	148954373	393	135504											
QARS	5859	broad.mit.edu	37	chr3	49141346	49141346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacccacgccacattcccGctcgaagtccacagtgtcga	8	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49141346G>A	uc003cvx.2	-	3	330	c.325C>T	c.(325-327)CGG>TGG	p.R109W	QARS_uc011bcd.1_5'UTR|QARS_uc003cvy.2_5'UTR|QARS_uc011bce.1_Missense_Mutation_p.R98W|QARS_uc011bcf.1_Missense_Mutation_p.R109W	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	109					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCACATTCCCGCTCGAAGTCC	0.582													A	49141346	G	A	49141346	3	1	272	1	0	0	0	0	1	0	0	0	12871	1086	38	1	2090	1	QARS	3	49141346	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	73289	49141346	148881084	394	135505											
LAMB2	3913	broad.mit.edu	37	chr3	49166108	49166108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaacctggggctctaagcGcagcagcaggtcatagtcca	11	12	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49166108G>A	uc003cwe.2	-	14	2175	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	LAMB2_uc003cwf.1_Missense_Mutation_p.R626C	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	626	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCTCTAAGCGCAGCAGCAGG	0.582													A	49166108	G	A	49166108	3	1	272	1	0	0	0	0	1	0	0	0	8611	1087	38	1	3596	1	LAMB2	3	49166108	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	24762	49166108	148856322	395	135506											
LAMB2	3913	broad.mit.edu	37	chr3	49167667	49167667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatcccagcctcacagcGgcacacagccggatcccgca	8	20	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49167667G>A	uc003cwe.2	-	9	1521	c.1222C>T	c.(1222-1224)CGC>TGC	p.R408C	LAMB2_uc003cwf.1_Missense_Mutation_p.R408C	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	408	Laminin EGF-like 2.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTCACAGCGGCACACAGCC	0.587													A	49167667	G	A	49167667	3	1	272	1	0	0	0	0	1	0	0	0	8611	1116	39	1	4270	1	LAMB2	3	49167667	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1559	49167667	148854763	396	135507											
RNF123	63891	broad.mit.edu	37	chr3	49742583	49742583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaagtgaaggtccgcaCgctgagcgtggagcagagga	18	7	0	4	rs151252055		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49742583C>T	uc003cxh.2	+	23	2212	c.2126C>T	c.(2125-2127)ACG>ATG	p.T709M	RNF123_uc010hky.1_Missense_Mutation_p.T371M|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	709						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AAGGTCCGCACGCTGAGCGTG	0.647													T	49742583	C	T	49742583	3	4	272	1	0	0	0	0	1	0	0	0	13433	536	19	1	2212	1	RNF123	3	49742583	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	574916	49742583	148279847	397	135508											
AMIGO3	386724	broad.mit.edu	37	chr3	49755649	49755649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtttggggccagcggCggcagcggcaggcacggcgg	22	10	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49755649C>T	uc003cxj.2	-	1	1590	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	417	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCcagcggcggcagcggca	0.537													T	49755649	C	T	49755649	3	4	272	1	0	0	0	0	1	0	0	0	577	768	27	1	268	1	AMIGO3	3	49755649	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13066	49755649	148266781	398	135509											
AMIGO3	386724	broad.mit.edu	37	chr3	49755895	49755895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgcctatggccaagctgCcgtcggccagcaccgcgatg	13	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49755895C>T	uc003cxj.2	-	1	1344	c.1004G>A	c.(1003-1005)GGC>GAC	p.G335D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	335	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCAAGCTGCCGTCGGCCAG	0.667													T	49755895	C	T	49755895	3	4	272	1	0	0	0	0	1	0	0	0	577	739	26	2	514	2	AMIGO3	3	49755895	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	246	49755895	148266535	399	135510											
SEMA3F	6405	broad.mit.edu	37	chr3	50222097	50222097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggtgatcaacttcatgCgcagccacccactcatgtac	8	13	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:50222097C>T	uc003cyj.2	+	13	1504	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C	SEMA3F_uc003cyk.2_Missense_Mutation_p.R405C	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	436	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAACTTCATGCGCAGCCACCC	0.592													T	50222097	C	T	50222097	3	4	272	1	0	0	0	0	1	0	0	0	14029	768	27	1	1352	1	SEMA3F	3	50222097	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	466202	50222097	147800333	400	135511											
HYAL1	3373	broad.mit.edu	37	chr3	50338110	50338110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggggtggctggtgcggCggacacagcggccatggccg	19	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:50338110C>T	uc003czp.2	-	4	1244	c.1112G>A	c.(1111-1113)CGC>CAC	p.R371H	HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.R189H|HYAL1_uc003czo.2_Missense_Mutation_p.R112H|HYAL1_uc003czq.2_Missense_Mutation_p.R341H|HYAL1_uc003czr.2_Missense_Mutation_p.R371H|HYAL1_uc003czn.2_Missense_Mutation_p.R32H|HYAL1_uc003czs.2_Missense_Mutation_p.R371H|HYAL1_uc003czt.2_3'UTR	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	371	EGF-like.					extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GCTGGTGCGGCGGACACAGCG	0.647													T	50338110	C	T	50338110	3	4	272	1	0	0	0	0	1	0	0	0	7463	768	27	1	199	1	HYAL1	3	50338110	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	116013	50338110	147684320	401	135512											
DOCK3	1795	broad.mit.edu	37	chr3	51418820	51418820	+	Frame_Shift_Del	DEL	C	C	-													tggacccgcctgcgctgccgCccaagccctaccacccccgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:51418820delC	uc011bds.1	+	53	5946	c.5923delC	c.(5923-5925)CCCfs	p.P1975fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1975	SH3-binding (Potential).					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCGCTGCCGCCCAAGCCCTA	0.697													-	51418820	C	-	51418820	7	5	272	1	0	1	0	1	0	0	0	0	4688	739	26	0	6133	0	DOCK3	3	51418820	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1080710	51418820	146603610	402	135513											
GRM2	2912	broad.mit.edu	37	chr3	51746781	51746781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgtgccatgagccgcgCggcctttgagggtgtggtgc	19	11	0	2	rs141459351	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:51746781C>T	uc010hlv.2	+	3	982	c.743C>T	c.(742-744)GCG>GTG	p.A248V	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	248	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	ATGAGCCGCGCGGCCTTTGAG	0.647													T	51746781	C	T	51746781	3	4	272	1	0	0	0	0	1	0	0	0	6797	768	27	1	749	1	GRM2	3	51746781	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	327961	51746781	146275649	403	135514											
POC1A	25886	broad.mit.edu	37	chr3	52183326	52183326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcgtcagaggctgtcaCgaaggactggccatcactgc	12	12	3	1	rs143181521		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52183326C>T	uc003dcu.2	-	4	673	c.355G>A	c.(355-357)GTG>ATG	p.V119M	POC1A_uc003dcv.2_Missense_Mutation_p.V81M|POC1A_uc003dcw.2_Missense_Mutation_p.V119M	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	119	WD 3.					centriole|microtubule basal body					0						GAGGCTGTCACGAAGGACTGG	0.537													T	52183326	C	T	52183326	3	4	272	1	0	0	0	0	1	0	0	0	12175	536	19	1	900	1	POC1A	3	52183326	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	436545	52183326	145839104	404	135515											
ALAS1	211	broad.mit.edu	37	chr3	52246368	52246368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caattaccctacggtgccccGgggagaagagctcctacgga	12	13	0	2	rs139914359		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52246368G>T	uc003dcy.1	+	11	2031	c.1694G>T	c.(1693-1695)CGG>CTG	p.R565L	ALAS1_uc003dcz.1_Missense_Mutation_p.R565L|ALAS1_uc011bec.1_Missense_Mutation_p.R582L	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	565					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				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)	ACGGTGCCCCGGGGAGAAGAG	0.517													T	52246368	G	T	52246368	3	4	272	1	0	0	0	0	1	0	0	0	484	1116	39	5	1728	5	ALAS1	3	52246368	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	63042	52246368	145776062	405	135516											
GLYCTK	132158	broad.mit.edu	37	chr3	52326884	52326884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagttgagaaggtggccGctggggccgatagatgtgct	18	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52326884G>A	uc003ddo.2	+	5	1410	c.1314G>A	c.(1312-1314)CCG>CCA	p.P438P	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.2_Silent_p.P102P	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	438					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				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)		GAAGGTGGCCGCTGGGGCCGA	0.662													A	52326884	G	A	52326884	2	1	272	1	0	0	0	0	0	0	0	1	6482	1074	38	1		1	GLYCTK	3	52326884	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	80516	52326884	145695546	406	135517											
DNAH1	25981	broad.mit.edu	37	chr3	52431783	52431783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgagatctttggcctgCatgacaatgccaacatcacc	8	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52431783C>T	uc011bef.1	+	74	12109	c.11848C>T	c.(11848-11850)CAT>TAT	p.H3950Y	DNAH1_uc003ddv.2_Missense_Mutation_p.H808Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4015					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			large_intestine(3)	3				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)		CTTTGGCCTGCATGACAATGC	0.557													T	52431783	C	T	52431783	3	4	272	1	0	0	0	0	1	0	0	0	4597	710	25	2	12138	2	DNAH1	3	52431783	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	104899	52431783	145590647	407	135518											
DNAH1	25981	broad.mit.edu	37	chr3	52433040	52433040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcaagcctctgtcatcAtgggtcatggacctgctgca	10	13	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52433040A>G	uc011bef.1	+	76	12525	c.12264A>G	c.(12262-12264)TCA>TCG	p.S4088S	DNAH1_uc003ddv.2_Silent_p.S946S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4153					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			large_intestine(3)	3				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)		CTCTGTCATCATGGGTCATGG	0.567													G	52433040	A	G	52433040	2	3	272	1	0	0	0	0	0	0	0	1	4597	204	8	3		3	DNAH1	3	52433040	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1257	52433040	145589390	408	135519											
BAP1	8314	broad.mit.edu	37	chr3	52437205	52437205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaggcctcaccatcccCgtcttctctctgctgtccgt	7	19	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52437205C>T	uc003ddx.2	-	14	1954	c.1839G>A	c.(1837-1839)ACG>ACA	p.T613T	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	613	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			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				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)		TCACCATCCCCGTCTTCTCTC	0.597			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52437205	C	T	52437205	2	4	272	1	0	0	0	0	0	0	0	1	1311	639	23	1		1	BAP1	3	52437205	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4165	52437205	145585225	409	135520											
STAB1	23166	broad.mit.edu	37	chr3	52540747	52540747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggggtcccgctgcagAgggtagacgtgatggccgcc	18	12	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52540747A>G	uc003dej.2	+	18	1944	c.1870A>G	c.(1870-1872)AGG>GGG	p.R624G	STAB1_uc003dei.1_Missense_Mutation_p.R624G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	624	Extracellular (Potential).|FAS1 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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		CCCGCTGCAGAGGGTAGACGT	0.692													G	52540747	A	G	52540747	3	3	272	1	0	0	0	0	1	0	0	0	15236	295	11	3	1940	3	STAB1	3	52540747	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	103542	52540747	145481683	410	135521											
TMEM110	375346	broad.mit.edu	37	chr3	52878871	52878871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgaagtattaggaggaCgatgaagacgacagactttt	11	7	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52878871C>T	uc003dge.2	-	5	595	c.514G>A	c.(514-516)GTC>ATC	p.V172I	MUSTN1_uc003dgb.3_5'Flank|TMEM110_uc003dgc.3_Missense_Mutation_p.V172I	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	172	Helical; (Potential).					integral to membrane				large_intestine(1)	1				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)		ATTAGGAGGACGATGAAGACG	0.537													T	52878871	C	T	52878871	3	4	272	1	0	0	0	0	1	0	0	0	16024	536	19	1	386	1	TMEM110	3	52878871	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	338124	52878871	145143559	411	135522											
TKT	7086	broad.mit.edu	37	chr3	53263034	53263034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacctacctttgtattggCggctagttccactgccttct	8	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:53263034C>T	uc003dgo.2	-	10	1494	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T	TKT_uc003dgp.2_Missense_Mutation_p.A94T|TKT_uc011beo.1_Missense_Mutation_p.A415T|TKT_uc003dgq.2_Missense_Mutation_p.A462T|TKT_uc011beq.1_Missense_Mutation_p.A470T|TKT_uc011ber.1_Missense_Mutation_p.A264T|TKT_uc011bep.1_Missense_Mutation_p.A379T	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1	462					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		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)	TTTGTATTGGCGGCTAGTTCC	0.527													T	53263034	C	T	53263034	3	4	272	1	0	0	0	0	1	0	0	0	15931	768	27	1	507	1	TKT	3	53263034	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	384163	53263034	144759396	412	135523											
CACNA1D	776	broad.mit.edu	37	chr3	53810059	53810059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcagtttttacatgcTctgtgcatttctggtaagtg	8	7	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:53810059T>G	uc003dgv.3	+	35	4512	c.4349T>G	c.(4348-4350)CTC>CGC	p.L1450R	CACNA1D_uc003dgu.3_Missense_Mutation_p.L1470R|CACNA1D_uc003dgy.3_Missense_Mutation_p.L1435R|CACNA1D_uc003dgw.3_Missense_Mutation_p.L1117R|CACNA1D_uc003dgx.1_Missense_Mutation_p.L626R	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1450	Dihydropyridine binding (By similarity).|IV.|Phenylalkylamine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	TTTTACATGCTCTGTGCATTT	0.483													G	53810059	T	G	53810059	3	3	272	1	0	0	0	0	1	0	0	0	2541	1551	54	5	4659	5	CACNA1D	3	53810059	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	547025	53810059	144212371	413	135524											
CACNA2D3	55799	broad.mit.edu	37	chr3	54596945	54596945	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgcaaagggctttttTaggcagtatccgggtgagta	15	5	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:54596945T>A	uc003dhf.2	+	6	711	c.663T>A	c.(661-663)TTT>TTA	p.F221L	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.F127L|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	221	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGGGCTTTTTTAGGCAGTATC	0.373													A	54596945	T	A	54596945	3	1	272	1	0	0	0	0	1	0	0	0	2550	1751	61	5	685	5	CACNA2D3	3	54596945	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	786886	54596945	143425485	414	135525											
CCDC66	285331	broad.mit.edu	37	chr3	56627979	56627979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatcttgccagctttctcCgttctatgactgctctcttg	7	12	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:56627979C>T	uc003dhz.2	+	10	1414	c.1327C>T	c.(1327-1329)CGT>TGT	p.R443C	CCDC66_uc003dhy.2_Missense_Mutation_p.R79C|CCDC66_uc003dhu.2_Missense_Mutation_p.R409C|CCDC66_uc003dhx.2_RNA	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	443										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGCTTTCTCCGTTCTATGAC	0.363													T	56627979	C	T	56627979	3	4	272	1	0	0	0	0	1	0	0	0	2838	652	23	1	1365	1	CCDC66	3	56627979	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2031034	56627979	141394451	415	135526											
PXK	54899	broad.mit.edu	37	chr3	58368270	58368271	+	Frame_Shift_Ins	INS	-	-	A													taagtctacctcttcctcccINSaaaaaattgattggtaacat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:58368270_58368271insA	uc003djz.1	+	4	330_331	c.231_232insA	c.(229-234)CCCAAAfs	p.P77fs	PXK_uc003djx.1_Frame_Shift_Ins_p.P77fs|PXK_uc003djy.1_Frame_Shift_Ins_p.P60fs|PXK_uc003dka.1_Frame_Shift_Ins_p.P77fs|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Frame_Shift_Ins_p.P60fs|PXK_uc011bfe.1_Frame_Shift_Ins_p.P44fs|PXK_uc010hnj.1_Frame_Shift_Ins_p.P44fs|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	77_78	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)		CTCTTCCTCCCAAAAAATTGAT	0.342													A	58368271	-	A	58368270	7	5	272	1	0	1	1	0	0	0	0	0	12849	581	21	0	245	0	PXK	3	58368270	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1740291	58368270	139654160	416	135527	701	2									
PXK	54899	broad.mit.edu	37	chr3	58368271	58368272	+	Frame_Shift_Ins	INS	-	-	A													aagtctacctcttcctcccaINSaaaaattgattggtaacatg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:58368270_58368271C>CA	uc003djz.1	+	3	330_331	c.231_232C>CA	c.(229-234)cccaaafs	p.P77fs	PXK_uc003djx.1_Frame_Shift_Ins_p.P77fs|PXK_uc003dka.1_Frame_Shift_Ins_p.P77fs|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Frame_Shift_Ins_p.P60fs|PXK_uc011bfe.1_Frame_Shift_Ins_p.P44fs|PXK_uc010hnj.1_Frame_Shift_Ins_p.P44fs|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	77	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin 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)		CTCTTCCTCCCAAAAAATTGAT	0.342													A	58368272	-	A	58368271	7	5	272	1	0	1	1	0	0	0	0	0	12849	131	5	0	246	0	PXK	3	58368271	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	58368271	139654159	417	135528	701	2									
ADAMTS9	56999	broad.mit.edu	37	chr3	64607996	64607996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttgtacaactttcccaccGacaaaacctagaatgtgtgg	9	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:64607996G>A	uc003dmg.2	-	18	2596	c.2564C>T	c.(2563-2565)TCG>TTG	p.S855L	ADAMTS9_uc011bfo.1_Missense_Mutation_p.S827L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S684L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S855L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	855	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		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)		CTTTCCCACCGACAAAACCTA	0.443													A	64607996	G	A	64607996	3	1	272	1	0	0	0	0	1	0	0	0	273	1059	37	1	3331	1	ADAMTS9	3	64607996	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6239725	64607996	133414434	418	135529											
LRIG1	26018	broad.mit.edu	37	chr3	66457835	66457835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctgatggaattgtggCtgagacgcaggacactcagg	16	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:66457835C>T	uc003dmx.2	-	8	1030	c.1016G>A	c.(1015-1017)AGC>AAC	p.S339N	LRIG1_uc003dmw.2_5'Flank|LRIG1_uc010hnz.2_Missense_Mutation_p.S79N|LRIG1_uc010hoa.2_Missense_Mutation_p.S339N	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	339	Extracellular (Potential).|LRR 12.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGAATTGTGGCTGAGACGCAG	0.602													T	66457835	C	T	66457835	3	4	272	1	0	0	0	0	1	0	0	0	8944	797	28	2	2313	2	LRIG1	3	66457835	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1849839	66457835	131564595	419	135530											
GPR27	2850	broad.mit.edu	37	chr3	71803255	71803255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgaggcggccgccctgGgcctcaagctggccacgctc	16	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:71803255G>T	uc011bge.1	+	1	55	c.55G>T	c.(55-57)GGC>TGC	p.G19C	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	19	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCGCCCTGGGCCTCAAGCT	0.766													T	71803255	G	T	71803255	3	4	272	1	0	0	0	0	1	0	0	0	6685	1232	43	5	57	5	GPR27	3	71803255	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5345420	71803255	126219175	420	135531											
PDZRN3	23024	broad.mit.edu	37	chr3	73432926	73432926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcttggtgatgtagcGcgtcccgtcgctgcggatct	15	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:73432926G>A	uc003dpl.1	-	10	2887	c.2791C>T	c.(2791-2793)CGC>TGC	p.R931C	PDZRN3_uc011bgh.1_Missense_Mutation_p.R588C|PDZRN3_uc010hoe.1_Missense_Mutation_p.R629C|PDZRN3_uc011bgf.1_Missense_Mutation_p.R648C|PDZRN3_uc011bgg.1_Missense_Mutation_p.R651C	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	931							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)		GTGATGTAGCGCGTCCCGTCG	0.672													A	73432926	G	A	73432926	3	1	272	1	0	0	0	0	1	0	0	0	11709	1087	38	1	413	1	PDZRN3	3	73432926	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1629671	73432926	124589504	421	135532											
VGLL3	389136	broad.mit.edu	37	chr3	87017929	87017929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atccagggcagagccagcagGagggtggtgatggtgatgat	18	6	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:87017929G>T	uc003dqn.2	-	3	1112	c.748C>A	c.(748-750)CCT>ACT	p.P250T		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	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)		GAGCCAGCAGGAGggtggtga	0.473													T	87017929	G	T	87017929	3	4	272	1	0	0	0	0	1	0	0	0	17157	1174	41	5	240	5	VGLL3	3	87017929	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	13585003	87017929	111004501	422	135533											
EPHA6	285220	broad.mit.edu	37	chr3	97356829	97356829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgagacctagcggctcGgaatatactggtcaatagca	10	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:97356829G>A	uc010how.1	+	14	2730	c.2687G>A	c.(2686-2688)CGG>CAG	p.R896Q	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.R288Q|EPHA6_uc003drr.3_Missense_Mutation_p.R288Q|EPHA6_uc003drt.2_Missense_Mutation_p.R288Q|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	801	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CTAGCGGCTCGGAATATACTG	0.443													A	97356829	G	A	97356829	3	1	272	1	0	0	0	0	1	0	0	0	5171	1116	39	1	2809	1	EPHA6	3	97356829	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10338900	97356829	100665601	423	135534											
CPOX	1371	broad.mit.edu	37	chr3	98299553	98299553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagtcccttggatggcGtagaacttccagaatttcag	9	12	1	2	rs28931603		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:98299553G>A	uc003dsx.2	-	7	1432	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C		NM_000097	NP_000088	P36551	HEM6_HUMAN	coproporphyrinogen oxidase precursor	447						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity				0						CTTGGATGGCGTAGAACTTCC	0.493													A	98299553	G	A	98299553	3	1	272	1	0	0	0	0	1	0	0	0	3821	1145	40	1	29	1	CPOX	3	98299553	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	942724	98299553	99722877	424	135535											
COL8A1	1295	broad.mit.edu	37	chr3	99514602	99514602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgagatgcctgcatttacCgccgagctaaccgcaccttt	8	13	0	1	rs115676498	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:99514602C>T	uc003dtg.1	+	5	2102	c.1857C>T	c.(1855-1857)ACC>ACT	p.T619T	COL8A1_uc003dth.1_Silent_p.T619T|COL8A1_uc003dti.1_Silent_p.T620T	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	619	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						CTGCATTTACCGCCGAGCTAA	0.557													T	99514602	C	T	99514602	2	4	272	1	0	0	0	0	0	0	0	1	3705	639	23	1		1	COL8A1	3	99514602	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1215049	99514602	98507828	425	135536											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-													ctgttttcttgttgatttagTtttttttgcaggactgagtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						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						TGTTGATTTAGTTTTTTTTGC	0.403													-	99568273	T	-	99568273	7	5	272	1	0	1	0	1	0	0	0	0	5895	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	53671	99568273	98454157	426	135537											
TBC1D23	55773	broad.mit.edu	37	chr3	100018114	100018114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctttgtggtggattgccGtcctgcagaacaatataatg	11	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:100018114G>A	uc003dtt.2	+	10	1208	c.1031G>A	c.(1030-1032)CGT>CAT	p.R344H	TBC1D23_uc003dts.2_Missense_Mutation_p.R344H	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	344	Rhodanese.					intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						GTGGATTGCCGTCCTGCAGAA	0.373													A	100018114	G	A	100018114	3	1	272	1	0	0	0	0	1	0	0	0	15610	1145	40	1	1069	1	TBC1D23	3	100018114	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	449841	100018114	98004316	427	135538											
SENP7	57337	broad.mit.edu	37	chr3	101060606	101060606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtaagtaggcttggcCgcatctgtgtttgagggctg	16	6	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:101060606C>T	uc003dut.2	-	15	2235	c.2124G>A	c.(2122-2124)GCG>GCA	p.A708A	SENP7_uc003duu.2_Silent_p.A643A|SENP7_uc003duv.2_Silent_p.A675A|SENP7_uc003duw.2_Silent_p.A642A|SENP7_uc003dux.2_Silent_p.A544A	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	708					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TAGGCTTGGCCGCATCTGTGT	0.438													T	101060606	C	T	101060606	2	4	272	1	0	0	0	0	0	0	0	1	14051	639	23	1		1	SENP7	3	101060606	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1042492	101060606	96961824	428	135539											
CCDC80	151887	broad.mit.edu	37	chr3	112357269	112357269	+	Frame_Shift_Del	DEL	T	T	-													gaattttgtcctgggccttcTttttgggaggtttctccttt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:112357268_112357268CT>C	uc003dzf.3	-	1	1703	c.1485_1485AG>G	c.(1483-1485)aagfs	p.K495fs	CCDC80_uc011bhv.2_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.K495fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	495	Lys-rich.									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						CCTGGGCCTTCTTTTTGGGAG	0.557													-	112357269	T	-	112357269	7	5	272	1	0	1	0	1	0	0	0	0	2854	1609	56	0	1396	0	CCDC80	3	112357269	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	11296663	112357269	85665161	429	135540											
SIDT1	54847	broad.mit.edu	37	chr3	113344997	113344997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accgcgagtgcattctgctgGatttcttcgatgaccatgac	10	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:113344997G>T	uc003eak.2	+	24	3007	c.2356G>T	c.(2356-2358)GAT>TAT	p.D786Y	SIDT1_uc011big.1_Missense_Mutation_p.D539Y|SIDT1_uc011bii.1_Missense_Mutation_p.D239Y	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	786	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CATTCTGCTGGATTTCTTCGA	0.488													T	113344997	G	T	113344997	3	4	272	1	0	0	0	0	1	0	0	0	14302	1174	41	5	2450	5	SIDT1	3	113344997	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	987728	113344997	84677433	430	135541											
TIGIT	201633	broad.mit.edu	37	chr3	114014391	114014391	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttcgtcctcttccctaGgaatgatgacaggcacaata	9	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:114014391G>T	uc003ebg.1	+	2	96	c.62_splice	c.e2-1	p.G21_splice		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains						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			central_nervous_system(1)	1						CTCTTCCCTAGGAATGATGAC	0.493													T	114014391	G	T	114014391	5	4	272	1	0	0	0	0	0	0	1	0	15899	1014	35	5	67	5	TIGIT	3	114014391	Splice_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	669394	114014391	84008039	431	135542											
STXBP5L	9515	broad.mit.edu	37	chr3	120959299	120959299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttaggagtggccaatcAgtggaggagcttggaacctt	14	7	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:120959299A>G	uc003eec.3	+	14	1485	c.1345A>G	c.(1345-1347)AGT>GGT	p.S449G	STXBP5L_uc011bji.1_Missense_Mutation_p.S449G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	449	WD 8.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GTGGCCAATCAGTGGAGGAGC	0.303													G	120959299	A	G	120959299	3	3	272	1	0	0	0	0	1	0	0	0	15356	188	7	3	1395	3	STXBP5L	3	120959299	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	6944908	120959299	77063131	432	135543											
SLC15A2	6565	broad.mit.edu	37	chr3	121643201	121643202	+	Frame_Shift_Ins	INS	-	-	T													tgttaaaatgtttcaggggtINStttttgtgcttcagccggac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:121643200_121643201G>GT	uc003eep.2	+	11	1158_1159	c.1005_1006G>GT	c.(1003-1008)gggtttfs	p.G335fs	SLC15A2_uc011bjn.1_Frame_Shift_Ins_p.G304fs	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	335					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTTTCAGGGGTTTTTTGTGCT	0.371													T	121643202	-	T	121643201	7	5	272	1	0	1	1	0	0	0	0	0	14399	1725	60	0	1052	0	SLC15A2	3	121643201	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	683902	121643201	76379229	433	135544											
SEMA5B	54437	broad.mit.edu	37	chr3	122641181	122641181	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgctgtcctgggtgacacaGggctcgggtgtcaccggctg	16	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:122641181G>T	uc003efz.1	-	11	1690	c.1386C>A	c.(1384-1386)CCC>CCA	p.P462P	SEMA5B_uc011bju.1_Silent_p.P404P|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.P462P|SEMA5B_uc010hro.1_Silent_p.P404P|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	462	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGGTGACACAGGGCTCGGGTG	0.637													T	122641181	G	T	122641181	2	4	272	1	0	0	0	0	0	0	0	1	14038	987	35	5		5	SEMA5B	3	122641181	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	997980	122641181	75381249	434	135545											
ADCY5	111	broad.mit.edu	37	chr3	123010121	123010121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctcatcattgcgccgctCgcgggccaggaagtgagcgg	16	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123010121C>T	uc003egh.1	-	18	3166	c.3166G>A	c.(3166-3168)GAG>AAG	p.E1056K	ADCY5_uc003egg.1_Missense_Mutation_p.E714K	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1056	Cytoplasmic (Potential).				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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TTGCGCCGCTCGCGGGCCAGG	0.602													T	123010121	C	T	123010121	3	4	272	1	0	0	0	0	1	0	0	0	297	893	31	1	635	1	ADCY5	3	123010121	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	368940	123010121	75012309	435	135546											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368044	+	Splice_Site	DEL	G	G	-													ccacttcatccttcggctctGgggggggcacaaggaaggac					rs138786404		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin 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)		CCTTCGGCTCTGGGGGGGGCA	0.622													-	123368044	G	-	123368044	8	5	272	1	0	1	0	1	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	357923	123368044	74654386	436	135547											
KALRN	8997	broad.mit.edu	37	chr3	123987740	123987740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacagcgccgtgcacctgCtctcgcgcctcgaggacctc	10	18	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123987740C>T	uc003ehg.2	+	5	728	c.601C>T	c.(601-603)CTC>TTC	p.L201F	KALRN_uc010hrv.1_Missense_Mutation_p.L201F|KALRN_uc003ehf.1_Missense_Mutation_p.L201F|KALRN_uc011bjy.1_Missense_Mutation_p.L201F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	201	Spectrin 1.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CGTGCACCTGCTCTCGCGCCT	0.597													T	123987740	C	T	123987740	3	4	272	1	0	0	0	0	1	0	0	0	7975	797	28	2	619	2	KALRN	3	123987740	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	619696	123987740	74034690	437	135548											
KALRN	8997	broad.mit.edu	37	chr3	123988090	123988090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcggctcttcgagcaGgatgctgagaaggtaggaag	16	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123988090G>T	uc003ehg.2	+	5	1078	c.951G>T	c.(949-951)CAG>CAT	p.Q317H	KALRN_uc010hrv.1_Missense_Mutation_p.Q317H|KALRN_uc003ehf.1_Missense_Mutation_p.Q317H|KALRN_uc011bjy.1_Missense_Mutation_p.Q317H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	317	Spectrin 2.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TCTTCGAGCAGGATGCTGAGA	0.562													T	123988090	G	T	123988090	3	4	272	1	0	0	0	0	1	0	0	0	7975	991	35	5	969	5	KALRN	3	123988090	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	350	123988090	74034340	438	135549											
KALRN	8997	broad.mit.edu	37	chr3	124174121	124174121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaggaaatgggtgaccaCggtggacaagcactacagag	14	7	0	2	rs148828057		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:124174121C>T	uc003ehg.2	+	22	3771	c.3644C>T	c.(3643-3645)ACG>ATG	p.T1215M	KALRN_uc010hrv.1_Missense_Mutation_p.T1206M|KALRN_uc003ehf.1_Missense_Mutation_p.T1215M|KALRN_uc011bjy.1_Missense_Mutation_p.T1206M|KALRN_uc003ehh.1_Missense_Mutation_p.T561M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1215	Spectrin 5.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TGGGTGACCACGGTGGACAAG	0.498													T	124174121	C	T	124174121	3	4	272	1	0	0	0	0	1	0	0	0	7975	536	19	1	3730	1	KALRN	3	124174121	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	186031	124174121	73848309	439	135550											
ITGB5	3693	broad.mit.edu	37	chr3	124492757	124492757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcagtgacactcgccatGgcctaaaaggatacatgtgg	11	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:124492757G>T	uc003eho.2	-	11	1993	c.1696C>A	c.(1696-1698)CAT>AAT	p.H566N	ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	566	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		CACTCGCCATGGCCTAAAAGG	0.383													T	124492757	G	T	124492757	3	4	272	1	0	0	0	0	1	0	0	0	7898	1348	47	5	723	5	ITGB5	3	124492757	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	318636	124492757	73529673	440	135551											
PLXNA1	5361	broad.mit.edu	37	chr3	126730826	126730826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagatcctgccctccaCgcagatctacgtgccagtgg	9	17	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:126730826C>T	uc003ejg.2	+	9	2073	c.2069C>T	c.(2068-2070)ACG>ATG	p.T690M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	713	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTGCCCTCCACGCAGATCTAC	0.612													T	126730826	C	T	126730826	3	4	272	1	0	0	0	0	1	0	0	0	12119	536	19	1	2172	1	PLXNA1	3	126730826	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2238069	126730826	71291604	441	135552											
PLXNA1	5361	broad.mit.edu	37	chr3	126749160	126749160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccggggctcagccctgccGctggccatcaagtacatgtt	11	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:126749160G>A	uc003ejg.2	+	28	5071	c.5067G>A	c.(5065-5067)CCG>CCA	p.P1689P	PLXNA1_uc003ejh.2_Silent_p.P357P	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1712	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGCCCTGCCGCTGGCCATCA	0.597													A	126749160	G	A	126749160	2	1	272	1	0	0	0	0	0	0	0	1	12119	1074	38	1		1	PLXNA1	3	126749160	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	18334	126749160	71273270	442	135553											
TPRA1	131601	broad.mit.edu	37	chr3	127295889	127295889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcatggataccacggcccGggcaatgcccaccagcgcca	11	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:127295889G>A	uc003ejl.2	-	3	580	c.289C>T	c.(289-291)CGG>TGG	p.R97W	TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Missense_Mutation_p.R97W|TPRA1_uc010hsk.2_Missense_Mutation_p.R97W|TPRA1_uc003ejn.2_Missense_Mutation_p.R97W	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	97					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						ACCACGGCCCGGGCAATGCCC	0.652													A	127295889	G	A	127295889	3	1	272	1	0	0	0	0	1	0	0	0	16414	1115	39	1	864	1	TPRA1	3	127295889	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	546729	127295889	70726541	443	135554											
ABTB1	80325	broad.mit.edu	37	chr3	127394896	127394896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatccgccgggctctacgcGattacaagcaggtcacggct	11	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:127394896G>A	uc003ejt.2	+	4	347	c.259G>A	c.(259-261)GAT>AAT	p.D87N	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.D62N|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	87						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GGCTCTACGCGATTACAAGCA	0.652													A	127394896	G	A	127394896	3	1	272	1	0	0	0	0	1	0	0	0	102	1058	37	1	273	1	ABTB1	3	127394896	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	99007	127394896	70627534	444	135555											
EEFSEC	60678	broad.mit.edu	37	chr3	127981010	127981010	+	Frame_Shift_Del	DEL	G	G	-													atacccgtggcggccaagccGgggggaccagaggcccccga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:127981009_127981009CG>C	uc003eki.3	+	2	601	c.563_563CG>C	c.(562-564)ccgfs	p.P188fs		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	188						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCGGCCAAGCCGGGGGGACCA	0.547													-	127981010	G	-	127981010	7	5	272	1	0	1	0	1	0	0	0	0	4931	1103	39	0	574	0	EEFSEC	3	127981010	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	586114	127981010	70041420	445	135556											
ACAD9	28976	broad.mit.edu	37	chr3	128628217	128628217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagtttgaggagaacaccTactgcttcggccggaccgtg	12	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:128628217T>C	uc003ela.3	+	15	1718	c.1516T>C	c.(1516-1518)TAC>CAC	p.Y506H	ACAD9_uc011bks.1_Missense_Mutation_p.Y383H|ACAD9_uc003elb.2_Missense_Mutation_p.Y383H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.Y158H	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	506						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						GGAGAACACCTACTGCTTCGG	0.592													C	128628217	T	C	128628217	3	2	272	1	0	0	0	0	1	0	0	0	111	1522	53	3	1574	3	ACAD9	3	128628217	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	647207	128628217	69394213	446	135557											
PLXND1	23129	broad.mit.edu	37	chr3	129280700	129280700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccaccactgaggtgtcGtccaggtcccgaaggatgta	11	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:129280700G>A	uc003emx.2	-	28	4972	c.4872C>T	c.(4870-4872)GAC>GAT	p.D1624D	PLXND1_uc011blb.1_Silent_p.D292D	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1624	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CTGAGGTGTCGTCCAGGTCCC	0.652													A	129280700	G	A	129280700	2	1	272	1	0	0	0	0	0	0	0	1	12127	1136	40	1		1	PLXND1	3	129280700	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	652483	129280700	68741730	447	135558											
TF	7018	broad.mit.edu	37	chr3	133465297	133465297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggaagatgaggctcgccGtgggagccctgctggtctgc	16	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:133465297G>A	uc003epu.1	+	6	1741	c.13G>A	c.(13-15)GTG>ATG	p.V5M	TF_uc011bls.1_Missense_Mutation_p.V5M|TF_uc011blt.1_Translation_Start_Site|TF_uc003epw.1_Missense_Mutation_p.V5M|TF_uc010htv.1_Intron|TF_uc003epv.1_Missense_Mutation_p.V5M	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	5					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			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAGGCTCGCCGTGGGAGCCCT	0.716													A	133465297	G	A	133465297	3	1	272	1	0	0	0	0	1	0	0	0	15782	1145	40	1	15	1	TF	3	133465297	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4184597	133465297	64557133	448	135559											
CEP63	80254	broad.mit.edu	37	chr3	134270808	134270808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactcaaattagaaaatcGtcatctttctgaaatggtga	7	7	5	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:134270808G>A	uc003eqo.1	+	13	1870	c.1421G>A	c.(1420-1422)CGT>CAT	p.R474H	CEP63_uc003eql.1_Missense_Mutation_p.R428H|CEP63_uc003eqm.2_Missense_Mutation_p.R428H|CEP63_uc003eqn.1_Missense_Mutation_p.R474H|CEP63_uc003eqp.1_Missense_Mutation_p.R103H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	474	Potential.				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			ovary(1)	1						TTAGAAAATCGTCATCTTTCT	0.308													A	134270808	G	A	134270808	3	1	272	1	0	0	0	0	1	0	0	0	3257	1145	40	1	1463	1	CEP63	3	134270808	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	805511	134270808	63751622	449	135560											
MSL2	55167	broad.mit.edu	37	chr3	135870358	135870358	+	Frame_Shift_Del	DEL	T	T	-													caccctttcttttcctggggTtttttgtacacagtcttggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:135870357_135870357GT>G	uc003eqx.1	-	1	2099	c.1366_1366AC>C	c.(1366-1368)cccfs	p.P456fs	MSL2_uc011bmb.1_Frame_Shift_Del_p.P382fs|MSL2_uc021xel.1_Frame_Shift_Del_p.P382fs	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	456	Lys-rich.				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						TTTTCCTGGGGTTTTTTGTAC	0.438													-	135870358	T	-	135870358	7	5	272	1	0	1	0	1	0	0	0	0	9878	1722	60	0	372	0	MSL2	3	135870358	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1599550	135870358	62152072	450	135561											
PCCB	5096	broad.mit.edu	37	chr3	136046531	136046531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacctttgtggtgataccaActatgcctggcccaccgcag	10	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:136046531A>G	uc003eqy.1	+	13	1406	c.1355A>G	c.(1354-1356)AAC>AGC	p.N452S	PCCB_uc003eqz.1_Missense_Mutation_p.N452S|PCCB_uc011bmc.1_Missense_Mutation_p.N472S	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	452	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	GGTGATACCAACTATGCCTGG	0.522													G	136046531	A	G	136046531	3	3	272	1	0	0	0	0	1	0	0	0	11505	43	2	3	1469	3	PCCB	3	136046531	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	176173	136046531	61975899	451	135562											
STAG1	10274	broad.mit.edu	37	chr3	136240212	136240213	+	Frame_Shift_Ins	INS	-	-	T													cacaaaagtttgaacgaaatINStttttccactgaggtccagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:136240211_136240212A>AT	uc003era.1	-	6	811_812	c.519_520T>AT	c.(517-522)aaatttfs	p.K173fs	STAG1_uc003erb.1_Frame_Shift_Ins_p.K173fs|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_Frame_Shift_Ins_p.K36fs|STAG1_uc003ere.3_Frame_Shift_Ins_p.K173fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	173					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						TTTGAACGAAATTTTTTCCACT	0.347													T	136240213	-	T	136240212	7	5	272	1	0	1	1	0	0	0	0	0	15241	1490	52	0	3369	0	STAG1	3	136240212	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	193681	136240212	61782218	452	135563											
CLDN18	51208	broad.mit.edu	37	chr3	137742517	137742517	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatgctgcaggcagtgCgagccctgatgatcgtaggc	14	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:137742517C>T	uc003ero.1	+	2	291	c.238C>T	c.(238-240)CGA>TGA	p.R80*	CLDN18_uc003erp.1_Nonsense_Mutation_p.R80*|CLDN18_uc010hue.1_Missense_Mutation_p.A75V	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	80	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R80R(1)		upper_aerodigestive_tract(1)|ovary(1)	2						GCAGGCAGTGCGAGCCCTGAT	0.522													T	137742517	C	T	137742517	4	4	272	1	0	0	0	0	0	1	0	0	3479	760	27	1	468	1	CLDN18	3	137742517	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1502305	137742517	60279913	453	135564											
PIK3CB	5291	broad.mit.edu	37	chr3	138413710	138413711	+	Frame_Shift_Ins	INS	-	-	G													agaagctctagggcctcccgINSggggggcagtttaggccaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:138413709_138413710C>CG	uc011bmq.2	-	11	1810_1811	c.1810_1811G>CG	c.(1810-1812)cggfs	p.R604fs	PIK3CB_uc011bmn.2_Frame_Shift_Ins_p.R116fs|PIK3CB_uc011bmo.2_Frame_Shift_Ins_p.R50fs|PIK3CB_uc011bmp.2_Frame_Shift_Ins_p.R191fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	604	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor 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			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						TAGGGCCTCCCGGGGGGGCAGT	0.465													G	138413711	-	G	138413710	7	5	272	1	0	1	1	0	0	0	0	0	11914	1115	39	0	1444	0	PIK3CB	3	138413710	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	671193	138413710	59608720	454	135565											
ATR	545	broad.mit.edu	37	chr3	142278281	142278281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgacagtccttgaaagtaCggctgcagtaagtacatttt	10	7	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:142278281C>T	uc003eux.3	-	7	1666	c.1544G>A	c.(1543-1545)CGT>CAT	p.R515H		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	515					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			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CTTGAAAGTACGGCTGCAGTA	0.318								Other_conserved_DNA_damage_response_genes					T	142278281	C	T	142278281	3	4	272	1	0	0	0	0	1	0	0	0	1204	536	19	1	6554	1	ATR	3	142278281	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3864571	142278281	55744149	455	135566											
ZIC4	84107	broad.mit.edu	37	chr3	147108942	147108942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacgtgtatggcttgtcGctagtgtgcacgtgcgaatg	14	8	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:147108942G>A	uc003ewd.1	-	4	1053	c.780C>T	c.(778-780)AGC>AGT	p.S260S	ZIC4_uc003ewc.1_Silent_p.S190S|ZIC4_uc011bno.1_Silent_p.S310S	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	260						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						ATGGCTTGTCGCTAGTGTGCA	0.647													A	147108942	G	A	147108942	2	1	272	1	0	0	0	0	0	0	0	1	17678	1078	38	1		1	ZIC4	3	147108942	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4830661	147108942	50913488	456	135567											
WWTR1	25937	broad.mit.edu	37	chr3	149290774	149290774	+	Frame_Shift_Del	DEL	T	T	-													agggtcttgccatgtggtgaTtttttctatgtgactaaaag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:149290773_149290773AT>A	uc003exf.3	-	2	786	c.446_446AT>T	c.(445-447)atcfs	p.I149fs	WWTR1_uc003exe.3_Frame_Shift_Del_p.I149fs|WWTR1_uc021xfm.1_Frame_Shift_Del_p.I149fs|WWTR1_uc003exh.3_Frame_Shift_Del_p.I149fs	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	149	WW.				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	p.I149N(2)		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)			CCATGTGGTGATTTTTTCTAT	0.408			T	CAMTA1	epitheliod hemangioendothelioma								-	149290774	T	-	149290774	7	5	272	1	0	1	0	1	0	0	0	0	17414	1493	52	0	777	0	WWTR1	3	149290774	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2181832	149290774	48731656	457	135568											
DHX36	170506	broad.mit.edu	37	chr3	154002398	154002398	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcattcacaactgttaagtGatcacttctagtatcctttg	6	10	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:154002398G>A	uc003ezy.3	-	19	2347	c.2266C>T	c.(2266-2268)CAC>TAC	p.H756Y	DHX36_uc010hvq.2_Missense_Mutation_p.H742Y|DHX36_uc003ezz.3_Intron	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	756						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACTGTTAAGTGATCACTTCTA	0.303													A	154002398	G	A	154002398	3	1	272	1	0	0	0	0	1	0	0	0	4509	1290	45	4	788	4	DHX36	3	154002398	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4711624	154002398	44020032	458	135569											
PTX3	5806	broad.mit.edu	37	chr3	157155333	157155333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcggtcaggagcactcGgaatgggacaagctcttcat	13	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:157155333G>A	uc003fbl.3	+	2	305	c.162G>A	c.(160-162)TCG>TCA	p.S54S	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	54					inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGAGCACTCGGAATGGGACA	0.612													A	157155333	G	A	157155333	2	1	272	1	0	0	0	0	0	0	0	1	12822	1103	39	1		1	PTX3	3	157155333	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3152935	157155333	40867097	459	135570											
NMD3	51068	broad.mit.edu	37	chr3	160958926	160958926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtaaccagtgccattcaCctcattgatccaaacaccct	5	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:160958926C>T	uc003feb.1	+	10	965	c.846C>T	c.(844-846)CAC>CAT	p.H282H	NMD3_uc003fec.2_Silent_p.H282H|NMD3_uc003fed.1_Silent_p.H282H|NMD3_uc010hwh.2_Silent_p.H102H	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	282					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GTGCCATTCACCTCATTGATC	0.363													T	160958926	C	T	160958926	2	4	272	1	0	0	0	0	0	0	0	1	10488	506	18	4		4	NMD3	3	160958926	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3803593	160958926	37063504	460	135571											
PLD1	5337	broad.mit.edu	37	chr3	171379954	171379954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaatcagcagcagagcGgagcaactacaaggcagcaa	11	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:171379954G>A	uc003fhs.2	-	20	2352	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C	PLD1_uc003fht.2_Missense_Mutation_p.R708C|PLD1_uc003fhu.3_Missense_Mutation_p.R40C|PLD1_uc003fhv.1_Missense_Mutation_p.R71C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	746	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			ovary(2)|lung(1)	3	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)	GCAGCAGAGCGGAGCAACTAC	0.428													A	171379954	G	A	171379954	3	1	272	1	0	0	0	0	1	0	0	0	12045	1116	39	1	1020	1	PLD1	3	171379954	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10421028	171379954	26642476	461	135572											
NCEH1	57552	broad.mit.edu	37	chr3	172365826	172365827	+	Frame_Shift_Ins	INS	-	-	T													tgggcagaagaccacgcgctINSttttttgccaaaagaaacaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:172365825_172365826C>CT	uc011bpx.2	-	1	451_452	c.313_314G>AG	c.(313-315)agcfs	p.S105fs	NCEH1_uc003fig.3_Frame_Shift_Ins_p.S105fs|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_Intron	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	73					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						AGACCACGCGCTTTTTTTGCCA	0.505													T	172365827	-	T	172365826	7	5	272	1	0	1	1	0	0	0	0	0	10215	1609	56	0	1049	0	NCEH1	3	172365826	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	985872	172365826	25656604	462	135573											
NLGN1	22871	broad.mit.edu	37	chr3	173996996	173996996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaaaatatagtagataGcgatgatggtatatcagcta	10	3	1	3	rs76946997	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:173996996G>A	uc003fio.1	+	6	1628	c.1205G>A	c.(1204-1206)AGC>AAC	p.S402N	NLGN1_uc010hww.1_Missense_Mutation_p.S442N|NLGN1_uc003fip.1_Missense_Mutation_p.S402N	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	419	Extracellular (Potential).				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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATAGTAGATAGCGATGATGGT	0.348													A	173996996	G	A	173996996	3	1	272	1	0	0	0	0	1	0	0	0	10461	971	34	2	1219	2	NLGN1	3	173996996	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1631170	173996996	24025434	463	135574											
PIK3CA	5290	broad.mit.edu	37	chr3	178916890	178916890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagacgactttgtgaccttCggctttttcaacccttttta	6	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:178916890C>T	uc003fjk.2	+	2	434	c.277C>T	c.(277-279)CGG>TGG	p.R93W		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	93	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	p.R93W(5)|p.R93Q(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TTGTGACCTTCGGCTTTTTCA	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178916890	C	T	178916890	3	4	272	1	0	0	0	0	1	0	0	0	11913	875	31	1	279	1	PIK3CA	3	178916890	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4919894	178916890	19105540	464	135575											
PIK3CA	5290	broad.mit.edu	37	chr3	178952006	178952006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcttttgatgacattgcaTacattcgaaagaccctagcc	6	10	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:178952006T>C	uc003fjk.2	+	21	3218	c.3061T>C	c.(3061-3063)TAC>CAC	p.Y1021H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1021	PI3K/PI4K.		Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (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.Y1021C(17)|p.Y1021H(2)|p.Y1021N(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TGACATTGCATACATTCGAAA	0.388		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178952006	T	C	178952006	3	2	272	1	0	0	0	0	1	0	0	0	11913	1406	49	3	3139	3	PIK3CA	3	178952006	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	35116	178952006	19070424	465	135576											
ACTL6A	86	broad.mit.edu	37	chr3	179288016	179288016	+	Frame_Shift_Del	DEL	A	A	-													atggaggccatttcacctctAaaaaatgggatgggtatgat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:179288015_179288015TA>T	uc003fjw.3	+	2	436	c.263_263TA>T	c.(262-264)ctafs	p.L88fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.L46fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.L46fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	88					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	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)			ATTTCACCTCTAAAAAATGGG	0.398													-	179288016	A	-	179288016	7	5	272	1	0	1	0	1	0	0	0	0	198	349	13	0	274	0	ACTL6A	3	179288016	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	336010	179288016	18734414	466	135577											
ATP11B	23200	broad.mit.edu	37	chr3	182584192	182584192	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagttggagtactatgcatCttcaccagatgaaaaggctc	10	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:182584192C>A	uc003flb.2	+	14	1837	c.1580C>A	c.(1579-1581)TCT>TAT	p.S527Y	ATP11B_uc003flc.2_Missense_Mutation_p.S111Y	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	527	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3	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)			TACTATGCATCTTCACCAGAT	0.413													A	182584192	C	A	182584192	3	1	272	1	0	0	0	0	1	0	0	0	1120	913	32	5	1634	5	ATP11B	3	182584192	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3296176	182584192	15438238	467	135578											
ATP11B	23200	broad.mit.edu	37	chr3	182586903	182586903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctggaatttgattcagatCgtaggagaatgagtgtaatt	11	3	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:182586903C>T	uc003flb.2	+	16	1983	c.1726C>T	c.(1726-1728)CGT>TGT	p.R576C	ATP11B_uc003flc.2_Missense_Mutation_p.R160C	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	576	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3	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)			TGATTCAGATCGTAGGAGAAT	0.274													T	182586903	C	T	182586903	3	4	272	1	0	0	0	0	1	0	0	0	1120	884	31	1	1788	1	ATP11B	3	182586903	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2711	182586903	15435527	468	135579											
MCF2L2	23101	broad.mit.edu	37	chr3	183027529	183027529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcctccagttttttgTgttccttaagaatctgctcc	5	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183027529T>C	uc003fli.1	-	10	1178	c.1088A>G	c.(1087-1089)CAC>CGC	p.H363R	MCF2L2_uc003flj.1_Missense_Mutation_p.H363R|MCF2L2_uc003flp.1_3'UTR|MCF2L2_uc011bqs.1_RNA	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	363	Spectrin.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	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)			CAGTTTTTTGTGTTCCTTAAG	0.458													C	183027529	T	C	183027529	3	2	272	1	0	0	0	0	1	0	0	0	9380	1696	59	3	2340	3	MCF2L2	3	183027529	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	440626	183027529	14994901	469	135580											
DVL3	1857	broad.mit.edu	37	chr3	183887922	183887922	+	Frame_Shift_Del	DEL	C	C	-													tcccgtaccagtacccgccaCccccgcacccatacaacccg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183887921_183887921AC>A	uc003fms.3	+	13	1766	c.1626_1626AC>A	c.(1624-1626)ccafs	p.P542fs	DVL3_uc011bqw.2_Frame_Shift_Del_p.P525fs|DVL3_uc003fmt.3_Frame_Shift_Del_p.P213fs|DVL3_uc003fmu.3_Frame_Shift_Del_p.P374fs	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	542					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)			AGTACCCGCCACCCCCGCACC	0.692													-	183887922	C	-	183887922	7	5	272	1	0	1	0	1	0	0	0	0	4837	507	18	0	1681	0	DVL3	3	183887922	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	860393	183887922	14134508	470	135581											
DVL3	1857	broad.mit.edu	37	chr3	183888240	183888240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcagcctgcgggggccGcgggagcgggcgcccagcga	20	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183888240G>A	uc003fms.2	+	15	1988	c.1848G>A	c.(1846-1848)CCG>CCA	p.P616P	DVL3_uc011bqw.1_Silent_p.P599P|DVL3_uc003fmt.2_Silent_p.P287P|DVL3_uc003fmu.2_Silent_p.P448P	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	616					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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TGCGGGGGCCGCGGGAGCGGG	0.731													A	183888240	G	A	183888240	2	1	272	1	0	0	0	0	0	0	0	1	4837	1074	38	1		1	DVL3	3	183888240	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	318	183888240	14134190	471	135582											
AP2M1	1173	broad.mit.edu	37	chr3	183899533	183899533	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccttccaccagtgtgtgCgactcagcaagtttgactct	9	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183899533C>T	uc011bqx.1	+	8	914	c.757C>T	c.(757-759)CGA>TGA	p.R253*	AP2M1_uc003fmw.2_Nonsense_Mutation_p.R251*|AP2M1_uc003fmx.2_Nonsense_Mutation_p.R181*|AP2M1_uc003fmy.2_Nonsense_Mutation_p.R251*|AP2M1_uc011bqy.1_Nonsense_Mutation_p.R123*|AP2M1_uc011bqz.1_Nonsense_Mutation_p.R69*	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	253	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				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGTGTGTGCGACTCAGCAA	0.522													T	183899533	C	T	183899533	4	4	272	1	0	0	0	0	0	1	0	0	742	760	27	1	780	1	AP2M1	3	183899533	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	11293	183899533	14122897	472	135583											
ECE2	9718	broad.mit.edu	37	chr3	183995760	183995760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgagcagaagacacagCgcttctacctatcttgccta	8	12	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183995760C>T	uc003fni.3	+	5	918	c.880C>T	c.(880-882)CGC>TGC	p.R294C	ECE2_uc011brg.1_Missense_Mutation_p.R222C|ECE2_uc011brh.1_Missense_Mutation_p.R147C|ECE2_uc003fnl.3_Missense_Mutation_p.R222C|ECE2_uc003fnm.3_Missense_Mutation_p.R176C|ECE2_uc003fnk.3_Missense_Mutation_p.R147C|ECE2_uc011bri.1_Missense_Mutation_p.R209C|ECE2_uc010hxv.2_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	294	Lumenal (Potential).|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			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGACACAGCGCTTCTACCT	0.557													T	183995760	C	T	183995760	3	4	272	1	0	0	0	0	1	0	0	0	4890	768	27	1	1462	1	ECE2	3	183995760	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	96227	183995760	14026670	473	135584											
EIF4G1	1981	broad.mit.edu	37	chr3	184040890	184040890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaataaaacaccactgcGgccactggatcccactagac	8	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184040890G>A	uc003fnp.2	+	14	2147	c.1949G>A	c.(1948-1950)CGG>CAG	p.R650Q	EIF4G1_uc003fno.1_Missense_Mutation_p.R591Q|EIF4G1_uc010hxw.1_Missense_Mutation_p.R486Q|EIF4G1_uc003fnt.2_Missense_Mutation_p.R361Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.R563Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.R486Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.R657Q|EIF4G1_uc003fns.2_Missense_Mutation_p.R610Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.R657Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.R650Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.R650Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.R657Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.R454Q|EIF4G1_uc003fny.3_Missense_Mutation_p.R454Q|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	650	MIF4G.				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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACACCACTGCGGCCACTGGAT	0.547													A	184040890	G	A	184040890	3	1	272	1	0	0	0	0	1	0	0	0	5036	1116	39	1	1995	1	EIF4G1	3	184040890	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	45130	184040890	13981540	474	135585											
EIF4G1	1981	broad.mit.edu	37	chr3	184042855	184042855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcccttgagtgcctttgtCgtctgctcaccaccattggc	9	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184042855C>T	uc003fnp.2	+	18	3007	c.2809C>T	c.(2809-2811)CGT>TGT	p.R937C	EIF4G1_uc003fno.1_Missense_Mutation_p.R878C|EIF4G1_uc010hxw.1_Missense_Mutation_p.R773C|EIF4G1_uc003fnt.2_Missense_Mutation_p.R648C|EIF4G1_uc003fnq.2_Missense_Mutation_p.R850C|EIF4G1_uc003fnr.2_Missense_Mutation_p.R773C|EIF4G1_uc010hxx.2_Missense_Mutation_p.R944C|EIF4G1_uc003fns.2_Missense_Mutation_p.R897C|EIF4G1_uc010hxy.2_Missense_Mutation_p.R944C|EIF4G1_uc003fnv.3_Missense_Mutation_p.R938C|EIF4G1_uc003fnu.3_Missense_Mutation_p.R937C|EIF4G1_uc003fnw.2_Missense_Mutation_p.R944C|EIF4G1_uc003fnx.2_Missense_Mutation_p.R742C|EIF4G1_uc003fny.3_Missense_Mutation_p.R741C|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	937	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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGCCTTTGTCGTCTGCTCAC	0.478													T	184042855	C	T	184042855	3	4	272	1	0	0	0	0	1	0	0	0	5036	884	31	1	2871	1	EIF4G1	3	184042855	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1965	184042855	13979575	475	135586											
CLCN2	1181	broad.mit.edu	37	chr3	184072414	184072414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgggaaccaggcagccaTgctttcacccaccagacgcc	9	16	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184072414T>C	uc003foi.2	-	14	1553	c.1429A>G	c.(1429-1431)ATG>GTG	p.M477V	CLCN2_uc003foh.2_Missense_Mutation_p.M1V|CLCN2_uc010hya.1_Intron|CLCN2_uc011brl.1_Missense_Mutation_p.M477V|CLCN2_uc011brm.1_Missense_Mutation_p.M433V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	477	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	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)	CAGGCAGCCATGCTTTCACCC	0.408											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	184072414	T	C	184072414	3	2	272	1	0	0	0	0	1	0	0	0	3463	1464	51	3	1311	3	CLCN2	3	184072414	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	29559	184072414	13950016	476	135587											
THPO	7066	broad.mit.edu	37	chr3	184090422	184090422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggaccacaggggtgGgcaaggtgggtggaagaggg	23	5	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184090422G>T	uc003fol.1	-	6	1156	c.941C>A	c.(940-942)CCC>CAC	p.P314H	THPO_uc003fom.1_Missense_Mutation_p.P310H|THPO_uc003fon.2_Silent_p.A275A|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Silent_p.A271A|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Silent_p.A235A	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	314	Pro-rich.				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACAGGGGTGGGCAAGGTGGG	0.602													T	184090422	G	T	184090422	3	4	272	1	0	0	0	0	1	0	0	0	15869	1232	43	5	124	5	THPO	3	184090422	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	18008	184090422	13932008	477	135588											
CHRD	8646	broad.mit.edu	37	chr3	184104713	184104713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctcccgaccagtgctgCcctgtttgccctggtgagtt	12	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184104713C>T	uc003fov.2	+	17	2523	c.2277C>T	c.(2275-2277)TGC>TGT	p.C759C	CHRD_uc003fow.2_Silent_p.C389C|CHRD_uc003fox.2_Silent_p.C759C|CHRD_uc003foy.2_Silent_p.C389C|CHRD_uc010hyc.2_Silent_p.C349C|CHRD_uc011brr.1_Silent_p.C301C	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	759	VWFC 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			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGTGCTGCCCTGTTTGCC	0.662													T	184104713	C	T	184104713	2	4	272	1	0	0	0	0	0	0	0	1	3372	747	26	2		2	CHRD	3	184104713	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	14291	184104713	13917717	478	135589											
MAGEF1	64110	broad.mit.edu	37	chr3	184428773	184428773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggccctgtcggcctcGtctgctagggcctcacggta	13	15	3	0	rs142008611		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184428773G>A	uc003fpa.2	-	1	1064	c.837C>T	c.(835-837)GAC>GAT	p.D279D		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	279										ovary(1)	1	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			tGTCGGCCTCGTCTGCTAGGG	0.408													A	184428773	G	A	184428773	2	1	272	1	0	0	0	0	0	0	0	1	9187	1136	40	1		1	MAGEF1	3	184428773	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	324060	184428773	13593657	479	135590											
MAP3K13	9175	broad.mit.edu	37	chr3	185190867	185190867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttctagcagcaagagccGatatcgaagcaaaccacgcc	8	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:185190867G>A	uc010hyf.2	+	12	2014	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	MAP3K13_uc011brt.1_Missense_Mutation_p.R376Q|MAP3K13_uc011bru.1_Missense_Mutation_p.R439Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R583Q|MAP3K13_uc010hyg.2_Missense_Mutation_p.R273Q	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	583					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			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCAAGAGCCGATATCGAAGC	0.537													A	185190867	G	A	185190867	3	1	272	1	0	0	0	0	1	0	0	0	9247	1058	37	1	1786	1	MAP3K13	3	185190867	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	762094	185190867	12831563	480	135591											
HRG	3273	broad.mit.edu	37	chr3	186395317	186395317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggacaccatccccactGccatgatttccaagactatg	6	15	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:186395317G>A	uc003fqq.2	+	7	1246	c.1223G>A	c.(1222-1224)TGC>TAC	p.C408Y		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	408	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		catccccactgccatGATTTC	0.269													A	186395317	G	A	186395317	3	1	272	1	0	0	0	0	1	0	0	0	7354	1319	46	2	1249	2	HRG	3	186395317	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1204450	186395317	11627113	481	135592											
BCL6	604	broad.mit.edu	37	chr3	187440320	187440320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttggtgttggtgatggCgccatgcttctggcgcaagt	14	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:187440320C>T	uc003frp.3	-	10	2504	c.2047G>A	c.(2047-2049)GCC>ACC	p.A683T	BCL6_uc011bsf.1_Missense_Mutation_p.A627T|BCL6_uc010hza.2_Missense_Mutation_p.A581T|BCL6_uc003frq.1_Missense_Mutation_p.A683T	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	683					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			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTGGTGATGGCGCCATGCTTC	0.542			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								T	187440320	C	T	187440320	3	4	272	1	0	0	0	0	1	0	0	0	1376	768	27	1	77	1	BCL6	3	187440320	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1045003	187440320	10582110	482	135593											
MUC4	4585	broad.mit.edu	37	chr3	195486029	195486029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgcagctgtctctgagCgtgaagttggcatcctcagc	13	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:195486029C>T	uc011bto.1	-	18	15028	c.14568G>A	c.(14566-14568)ACG>ACA	p.T4856T	MUC4_uc003fuz.2_Silent_p.T582T|MUC4_uc003fva.2_Silent_p.T464T|MUC4_uc003fvb.2_Silent_p.T500T|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.T500T|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.T464T|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.T548T|MUC4_uc011bti.1_Silent_p.T548T|MUC4_uc011btj.1_Silent_p.T725T|MUC4_uc011btk.1_Silent_p.T464T|MUC4_uc011btl.1_Silent_p.T493T|MUC4_uc011btm.1_Silent_p.T673T|MUC4_uc011btn.1_Silent_p.T464T|MUC4_uc003fvo.2_Silent_p.T748T|MUC4_uc003fvp.2_Silent_p.T697T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1741					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		TGTCTCTGAGCGTGAAGTTGG	0.547													T	195486029	C	T	195486029	2	4	272	1	0	0	0	0	0	0	0	1	9978	755	27	1		1	MUC4	3	195486029	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8045709	195486029	2536401	483	135594											
MUC4	4585	broad.mit.edu	37	chr3	195495900	195495900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccatcctacctagagaAgcccatgagcaccgggttgc	9	16	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:195495900A>C	uc011bto.1	-	8	13598	c.13138T>G	c.(13138-13140)TTC>GTC	p.F4380V	MUC4_uc003fuz.2_Silent_p.A135A|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Silent_p.A53A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.A53A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.F72V|MUC4_uc011bti.1_Missense_Mutation_p.F72V|MUC4_uc011btj.1_Missense_Mutation_p.F249V|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Missense_Mutation_p.F17V|MUC4_uc011btm.1_Missense_Mutation_p.F197V|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.F272V|MUC4_uc003fvp.2_Missense_Mutation_p.F221V|MUC4_uc010hzu.1_Missense_Mutation_p.F1120V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1265	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		TACCTAGAGAAGCCCATGAGC	0.632													C	195495900	A	C	195495900	3	2	272	1	0	0	0	0	1	0	0	0	9978	72	3	5	2792	5	MUC4	3	195495900	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	9871	195495900	2526530	484	135595											
C3orf43	255798	broad.mit.edu	37	chr3	196236458	196236458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaagccttactatgatGttcgaatttctgcatcaggt	8	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:196236458G>A	uc003fws.2	-	2	290	c.133C>T	c.(133-135)CAT>TAT	p.H45Y	C3orf43_uc003fwr.2_Missense_Mutation_p.H37Y	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	45						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)		TTACTATGATGTTCGAATTTC	0.443													A	196236458	G	A	196236458	3	1	272	1	0	0	0	0	1	0	0	0	2230	1377	48	4	519	4	C3orf43	3	196236458	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	740558	196236458	1785972	485	135596											
C3orf43	255798	broad.mit.edu	37	chr3	196242058	196242058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctccttcaaggatatcAgggttgtggtttcattgttc	10	8	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:196242058A>G	uc003fws.2	-	1	180	c.23T>C	c.(22-24)CTG>CCG	p.L8P	C3orf43_uc003fwr.2_5'UTR	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	8	Potential.					integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)		CAAGGATATCAGGGTTGTGGT	0.328													G	196242058	A	G	196242058	3	3	272	1	0	0	0	0	1	0	0	0	2230	188	7	3	633	3	C3orf43	3	196242058	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	5600	196242058	1780372	486	135597											
MFI2	4241	broad.mit.edu	37	chr3	196735805	196735805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggggttgttcacgggCacgcagctggcattgaagaa	14	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:196735805C>T	uc003fxk.3	-	12	1670	c.1557G>A	c.(1555-1557)GTG>GTA	p.V519V		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	519	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		TGTTCACGGGCACGCAGCTGG	0.642													T	196735805	C	T	196735805	2	4	272	1	0	0	0	0	0	0	0	1	9522	697	25	2		2	MFI2	3	196735805	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	493747	196735805	1286625	487	135598											
BDH1	622	broad.mit.edu	37	chr3	197239184	197239184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatgcagtacggggagCgggccgggttggccatgcgg	21	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:197239184C>T	uc003fxr.2	-	8	1016	c.614G>A	c.(613-615)CGC>CAC	p.R205H	BDH1_uc003fxs.2_Missense_Mutation_p.R205H|BDH1_uc003fxt.2_Missense_Mutation_p.R118H|BDH1_uc003fxu.2_Missense_Mutation_p.R205H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	205					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GTACGGGGAGCGGGCCGGGTT	0.617													T	197239184	C	T	197239184	3	4	272	1	0	0	0	0	1	0	0	0	1390	768	27	1	421	1	BDH1	3	197239184	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	503379	197239184	783246	488	135599											
KIAA0226	9711	broad.mit.edu	37	chr3	197444992	197444992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattacccagcaactgccaGtgctccctcctgcaagggca	8	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:197444992G>A	uc003fyc.2	-	2	258	c.75C>T	c.(73-75)CAC>CAT	p.H25H	KIAA0226_uc003fyd.3_5'UTR|KIAA0226_uc003fyf.2_Intron|KIAA0226_uc003fyg.2_Silent_p.H18H	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	25					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	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)		GCAACTGCCAGTGCTCCCTCC	0.502													A	197444992	G	A	197444992	2	1	272	1	0	0	0	0	0	0	0	1	8162	1020	36	4		4	KIAA0226	3	197444992	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	205808	197444992	577438	489	135600											
ZNF721	170960	broad.mit.edu	37	chr4	437305	437305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtacataaaggtttgcGgactgtctaaaggctttgcc	10	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:437305G>A	uc003gag.2	-	3	1642	c.951C>T	c.(949-951)TCC>TCT	p.S317S	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.S349S|ZNF721_uc010ibe.2_Silent_p.S305S	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	317						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AAAGGTTTGCGGACTGTCTAA	0.408													A	437305	G	A	437305	2	1	272	1	0	0	0	0	0	0	0	1	18119	1103	39	1		1	ZNF721	4	437305	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08		437305	190716971	490	135601											
GAK	2580	broad.mit.edu	37	chr4	871440	871440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaggtgctggccacacGctcgtcccccacgtagacct	12	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:871440G>A	uc003gbm.3	-	16	2018	c.1819C>T	c.(1819-1821)CGT>TGT	p.R607C	GAK_uc003gbn.3_Missense_Mutation_p.R528C|GAK_uc010ibk.1_Missense_Mutation_p.R501C|GAK_uc003gbl.3_Missense_Mutation_p.R471C	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	607	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CTGGCCACACGCTCGTCCCCC	0.647													A	871440	G	A	871440	3	1	272	1	0	0	0	0	1	0	0	0	6195	1087	38	1	2168	1	GAK	4	871440	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	434135	871440	190282836	491	135602											
IDUA	3425	broad.mit.edu	37	chr4	997815	997815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtgcctgtggacataCgagatccagttctctcagga	11	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:997815C>T	uc003gby.2	+	13	1831	c.1743C>T	c.(1741-1743)TAC>TAT	p.Y581Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.Y603Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	581					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGTGGACATACGAGATCCAGT	0.622													T	997815	C	T	997815	2	4	272	1	0	0	0	0	0	0	0	1	7504	547	19	1		1	IDUA	4	997815	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	126375	997815	190156461	492	135603											
KIAA1530	57654	broad.mit.edu	37	chr4	1348915	1348915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtttcgcagcgcttcacccGcgtcgggacccacggtggat	13	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1348915G>A	uc003gde.3	+	7	1505	c.1058G>A	c.(1057-1059)CGC>CAC	p.R353H		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	353											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CGCTTCACCCGCGTCGGGACC	0.617													A	1348915	G	A	1348915	3	1	272	1	0	0	0	0	1	0	0	0	8241	1087	38	1	1080	1	KIAA1530	4	1348915	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	351100	1348915	189805361	493	135604											
FGFR3	2261	broad.mit.edu	37	chr4	1807545	1807545	+	Frame_Shift_Del	DEL	C	C	-													agtttctgcgggcgcggcggCccccgggcctggactactcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1807544_1807544GC>G	uc003gdr.3	+	12	1969	c.1713_1713GC>G	c.(1711-1713)cggfs	p.R571fs	FGFR3_uc003gdu.2_Frame_Shift_Del_p.R573fs|FGFR3_uc003gds.3_Frame_Shift_Del_p.R459fs|FGFR3_uc003gdq.3_Frame_Shift_Del_p.R572fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	571	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|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)	gggcgcggcggcccccgggcc	0.697		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				-	1807545	C	-	1807545	7	5	272	1	0	1	0	1	0	0	0	0	5867	739	26	0	1915	0	FGFR3	4	1807545	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	458630	1807545	189346731	494	135605											
LETM1	3954	broad.mit.edu	37	chr4	1843332	1843332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgagtcatcgcgaacaggGcgcgaagagtgccagccacg	14	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1843332G>A	uc003gdv.2	-	3	633	c.336C>T	c.(334-336)CGC>CGT	p.R112R	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Silent_p.R112R	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	112					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CGCGAACAGGGCGCGAAGAGT	0.602													A	1843332	G	A	1843332	2	1	272	1	0	0	0	0	0	0	0	1	8734	1190	42	2		2	LETM1	4	1843332	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	35787	1843332	189310944	495	135606											
WHSC2	7469	broad.mit.edu	37	chr4	1989662	1989662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggtggtgtccatcttcCgcagcagcccccggcccttg	11	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1989662C>T	uc003gem.2	-	4	890	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	WHSC2_uc003gek.2_5'Flank|WHSC2_uc003gel.2_Missense_Mutation_p.R131Q|WHSC2_uc003gen.2_Missense_Mutation_p.R71Q|MIR943_hsa-mir-943|MI0005768_5'Flank	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	206	HDAg-like.				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GTCCATCTTCCGCAGCAGCCC	0.657													T	1989662	C	T	1989662	3	4	272	1	0	0	0	0	1	0	0	0	17361	652	23	1	1001	1	WHSC2	4	1989662	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	146330	1989662	189164614	496	135607											
RGS12	6002	broad.mit.edu	37	chr4	3432560	3432560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgggggcatccagaCggtggaggatgagcacgtgg	21	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:3432560C>T	uc003ggw.2	+	17	4896	c.3992C>T	c.(3991-3993)ACG>ATG	p.T1331M	RGS12_uc003ggv.2_Missense_Mutation_p.T1331M|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.T683M|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.T673M|RGS12_uc010icv.2_Missense_Mutation_p.T530M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1331						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCATCCAGACGGTGGAGGAT	0.687													T	3432560	C	T	3432560	3	4	272	1	0	0	0	0	1	0	0	0	13295	536	19	1	4112	1	RGS12	4	3432560	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1442898	3432560	187721716	497	135608											
LRPAP1	4043	broad.mit.edu	37	chr4	3516517	3516517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccgcccctccagcagggCgtgcttctcgcggctgcggc	15	17	1	0	rs148077268	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:3516517C>T	uc003ghi.2	-	7	1058	c.973G>A	c.(973-975)GCC>ACC	p.A325T		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	325	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCCAGCAGGGCGTGCTTCTCG	0.677													T	3516517	C	T	3516517	3	4	272	1	0	0	0	0	1	0	0	0	8964	768	27	1	108	1	LRPAP1	4	3516517	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	83957	3516517	187637759	498	135609											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107609	6107609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgcagcttggccttgAgctccgaaatgtaggccgtg	12	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6107609A>G	uc003giu.3	-	3	491	c.215T>C	c.(214-216)CTC>CCC	p.L72P	JAKMIP1_uc010idb.1_Missense_Mutation_p.L72P|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.L72P|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.L72P|JAKMIP1_uc010ide.2_Missense_Mutation_p.L72P	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	72	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CTTGGCCTTGAGCTCCGAAAT	0.682													G	6107609	A	G	6107609	3	3	272	1	0	0	0	0	1	0	0	0	7940	304	11	3	2431	3	JAKMIP1	4	6107609	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2591092	6107609	185046667	499	135610											
WFS1	7466	broad.mit.edu	37	chr4	6292940	6292940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcatcacgtccgagaaCgaacgggaggtgaggcagct	15	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6292940C>T	uc003giy.2	+	5	643	c.477C>T	c.(475-477)AAC>AAT	p.N159N	WFS1_uc003gix.2_Silent_p.N159N|WFS1_uc003giz.2_Translation_Start_Site	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	159					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)	2				Colorectal(103;0.0512)		CGTCCGAGAACGAACGGGAGG	0.602													T	6292940	C	T	6292940	2	4	272	1	0	0	0	0	0	0	0	1	17357	535	19	1		1	WFS1	4	6292940	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	185331	6292940	184861336	500	135611											
KIAA0232	9778	broad.mit.edu	37	chr4	6864456	6864456	+	Frame_Shift_Del	DEL	A	A	-													agattcctacattagttttcAaaaaaacatctaaactagaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6864455_6864455CA>C	uc003gjr.4	+	6	2809	c.2346_2346CA>C	c.(2344-2346)ttcfs	p.F782fs	KIAA0232_uc003gjq.4_Frame_Shift_Del_p.F782fs	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	782							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						CATTAGTTTTCAAAAAAACAT	0.318													-	6864456	A	-	6864456	7	5	272	1	0	1	0	1	0	0	0	0	8163	131	5	0	2365	0	KIAA0232	4	6864456	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	571516	6864456	184289820	501	135612											
KIAA0232	9778	broad.mit.edu	37	chr4	6882514	6882514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattgttttaatcttagGtgtcttctgtttatgaagca	8	4	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6882514G>A	uc003gjr.3	+	10	4472	c.4009G>A	c.(4009-4011)GTG>ATG	p.V1337M	KIAA0232_uc003gjq.3_Missense_Mutation_p.V1337M	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	1337							ATP binding			ovary(2)	2						TTAATCTTAGGTGTCTTCTGT	0.393													A	6882514	G	A	6882514	3	1	272	1	0	0	0	0	1	0	0	0	8163	1275	44	4	4039	4	KIAA0232	4	6882514	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	18058	6882514	184271762	502	135613											
SH3TC1	54436	broad.mit.edu	37	chr4	8218845	8218845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgagccccagcgtgtcctccGaggaggtggcagtggcggcc	17	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8218845G>A	uc003gkv.3	+	7	891	c.790G>A	c.(790-792)GAG>AAG	p.E264K	SH3TC1_uc003gkw.3_Missense_Mutation_p.E188K|SH3TC1_uc003gkx.3_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	264							binding			large_intestine(2)|pancreas(1)	3						CGTGTCCTCCGAGGAGGTGGC	0.662													A	8218845	G	A	8218845	3	1	272	1	0	0	0	0	1	0	0	0	14261	1059	37	1	812	1	SH3TC1	4	8218845	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1336331	8218845	182935431	503	135614											
SH3TC1	54436	broad.mit.edu	37	chr4	8242678	8242678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggcccccagccaccctcGctgaggacagcatccaaggg	12	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8242678G>A	uc003gkv.3	+	18	4108	c.4007G>A	c.(4006-4008)CGC>CAC	p.R1336H	SH3TC1_uc003gkw.3_Missense_Mutation_p.R1260H|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1336							binding			large_intestine(2)|pancreas(1)	3						AGCCACCCTCGCTGAGGACAG	0.647													A	8242678	G	A	8242678	3	1	272	1	0	0	0	0	1	0	0	0	14261	1087	38	1	4073	1	SH3TC1	4	8242678	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	23833	8242678	182911598	504	135615											
ACOX3	8310	broad.mit.edu	37	chr4	8396369	8396369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctggcgctgcggtctcccGatgcaagtcctcgctggagc	14	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8396369G>A	uc010idk.2	-	10	1302	c.1157C>T	c.(1156-1158)TCG>TTG	p.S386L	ACOX3_uc003glc.3_Missense_Mutation_p.S386L|ACOX3_uc003gld.3_Missense_Mutation_p.S386L|ACOX3_uc003gle.1_Missense_Mutation_p.S291L	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	386					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			central_nervous_system(1)	1						GCGGTCTCCCGATGCAAGTCC	0.542													A	8396369	G	A	8396369	3	1	272	1	0	0	0	0	1	0	0	0	160	1059	37	1	981	1	ACOX3	4	8396369	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	153691	8396369	182757907	505	135616											
ACOX3	8310	broad.mit.edu	37	chr4	8398742	8398742	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagtggctgagaagcgaagAgcgatggccacggccagctt	16	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8398742A>G	uc010idk.2	-	9	1123	c.978T>C	c.(976-978)GCT>GCC	p.A326A	ACOX3_uc003glc.3_Silent_p.A326A|ACOX3_uc003gld.3_Silent_p.A326A|ACOX3_uc003gle.1_Silent_p.A231A	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	326					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			central_nervous_system(1)	1						AGAAGCGAAGAGCGATGGCCA	0.582													G	8398742	A	G	8398742	2	3	272	1	0	0	0	0	0	0	0	1	160	291	11	3		3	ACOX3	4	8398742	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2373	8398742	182755534	506	135617											
GPR78	27201	broad.mit.edu	37	chr4	8582941	8582941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccgtcggcgcccggcGcatgccaagtcattggcttc	13	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8582941G>A	uc003glk.2	+	1	651	c.232G>A	c.(232-234)GCA>ACA	p.A78T	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	78	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GGCGCCCGGCGCATGCCAAGT	0.692													A	8582941	G	A	8582941	3	1	272	1	0	0	0	0	1	0	0	0	6710	1087	38	1	234	1	GPR78	4	8582941	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	184199	8582941	182571335	507	135618											
SLIT2	9353	broad.mit.edu	37	chr4	20555573	20555573	+	Frame_Shift_Del	DEL	A	A	-													ttttactcacaactccctccAaaaaatttacctgtcaaggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:20555572_20555572CA>C	uc003gpr.1	+	25	2910	c.2706_2706CA>C	c.(2704-2706)tccfs	p.S902fs	SLIT2_uc003gps.1_Frame_Shift_Del_p.S894fs	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	902	LRRCT 4.				Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan 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						CAACTCCCTCCAAAAAATTTA	0.358													-	20555573	A	-	20555573	7	5	272	1	0	1	0	1	0	0	0	0	14740	131	5	0	2809	0	SLIT2	4	20555573	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	11972632	20555573	170598703	508	135619											
DHX15	1665	broad.mit.edu	37	chr4	24550502	24550503	+	Frame_Shift_Ins	INS	-	-	T													ttccaattgctccattctgtINStttttgggaggtggaggctc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:24550501_24550502G>GT	uc003gqx.3	-	5	1392_1393	c.1224_1225C>AC	c.(1222-1227)aaacagfs	p.K408fs		NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	408	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			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)				GCTCCATTCTGTTTTTTGGGAG	0.351													T	24550503	-	T	24550502	7	5	272	1	0	1	1	0	0	0	0	0	4501	1722	60	0	1199	0	DHX15	4	24550502	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	3994929	24550502	166603774	509	135620											
SLC34A2	10568	broad.mit.edu	37	chr4	25671387	25671387	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcttatagtggagagcTtccacttcaagaatggagaa	10	9	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:25671387T>G	uc003grr.2	+	7	835	c.754T>G	c.(754-756)TTC>GTC	p.F252V	SLC34A2_uc003grs.2_Missense_Mutation_p.F251V|SLC34A2_uc010iev.2_Missense_Mutation_p.F251V	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	252	Extracellular (Potential).				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			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				AGTGGAGAGCTTCCACTTCAA	0.493													G	25671387	T	G	25671387	3	3	272	1	0	0	0	0	1	0	0	0	14568	1609	56	5	776	5	SLC34A2	4	25671387	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1120885	25671387	165482889	510	135621											
STIM2	57620	broad.mit.edu	37	chr4	26997036	26997036	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagacactcttcagtggTtgatagagtttgttgaacta	10	5	2	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:26997036T>C	uc003gsh.3	+	4	910	c.694T>C	c.(694-696)TTG>CTG	p.L232L	STIM2_uc003gsg.3_Silent_p.L232L|STIM2_uc010iex.2_Silent_p.L232L	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	145	SAM.|Extracellular (Potential).				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			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				TCTTCAGTGGTTGATAGAGTT	0.368													C	26997036	T	C	26997036	2	2	272	1	0	0	0	0	0	0	0	1	15283	1722	60	3		3	STIM2	4	26997036	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1325649	26997036	164157240	511	135622											
PTTG2	10744	broad.mit.edu	37	chr4	37962494	37962494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagtggagtgcctctcAtgatccttgatgaggaggga	14	8	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:37962494A>G	uc011bye.1	+	1	439	c.439A>G	c.(439-441)ATG>GTG	p.M147V	TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	147					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding				0						AGTGCCTCTCATGATCCTTGA	0.488													G	37962494	A	G	37962494	3	3	272	1	0	0	0	0	1	0	0	0	12821	217	8	3	441	3	PTTG2	4	37962494	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	10965458	37962494	153191782	512	135623											
TBC1D1	23216	broad.mit.edu	37	chr4	38016406	38016406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagcctgtgcgcaggcccAtgcgcaagtccttctcccag	12	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:38016406A>G	uc003gtb.2	+	3	1037	c.694A>G	c.(694-696)ATG>GTG	p.M232V	TBC1D1_uc011byd.1_Missense_Mutation_p.M232V|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.M103V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	232						nucleus	Rab GTPase activator activity			ovary(1)	1						GCGCAGGCCCATGCGCAAGTC	0.692													G	38016406	A	G	38016406	3	3	272	1	0	0	0	0	1	0	0	0	15594	217	8	3	700	3	TBC1D1	4	38016406	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	53912	38016406	153137870	513	135624											
KLF3	51274	broad.mit.edu	37	chr4	38690414	38690414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagttcccgtcctcacaccGgagagcctcgcctgggttga	12	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:38690414G>A	uc003gth.3	+	3	598	c.266G>A	c.(265-267)CGG>CAG	p.R89Q	KLF3_uc003gtg.2_Missense_Mutation_p.R89Q	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	89	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TCCTCACACCGGAGAGCCTCG	0.602													A	38690414	G	A	38690414	3	1	272	1	0	0	0	0	1	0	0	0	8347	1116	39	1	272	1	KLF3	4	38690414	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	674008	38690414	152463862	514	135625											
ATP8A1	10396	broad.mit.edu	37	chr4	42545946	42545946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttacagctcctttgcaGtagagtcgtaactttccaga	7	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:42545946G>A	uc003gwr.2	-	20	1942	c.1710C>T	c.(1708-1710)TAC>TAT	p.Y570Y	ATP8A1_uc003gws.2_Silent_p.Y555Y|ATP8A1_uc011byz.1_Silent_p.Y555Y	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	570	Cytoplasmic (Potential).				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			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	CTCCTTTGCAGTAGAGTCGTA	0.328													A	42545946	G	A	42545946	2	1	272	1	0	0	0	0	0	0	0	1	1192	1024	36	4		4	ATP8A1	4	42545946	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3855532	42545946	148608330	515	135626											
GUF1	60558	broad.mit.edu	37	chr4	44690074	44690074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgaaagatgtcactgAagcgcaaataggagatacat	12	5	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:44690074A>G	uc003gww.3	+	9	1196	c.989A>G	c.(988-990)GAA>GGA	p.E330G	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	330					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						GATGTCACTGAAGCGCAAATA	0.388													G	44690074	A	G	44690074	3	3	272	1	0	0	0	0	1	0	0	0	6899	246	9	3	1023	3	GUF1	4	44690074	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2144128	44690074	146464202	516	135627											
CORIN	10699	broad.mit.edu	37	chr4	47746581	47746581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctcacagaaggaccTacagggcaggagtccatgac	12	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:47746581T>C	uc003gxm.2	-	5	730	c.637A>G	c.(637-639)AGG>GGG	p.R213G	CORIN_uc011bzf.1_Missense_Mutation_p.R74G|CORIN_uc011bzg.1_Missense_Mutation_p.R146G|CORIN_uc011bzh.1_Missense_Mutation_p.R213G|CORIN_uc011bzi.1_Missense_Mutation_p.R213G|CORIN_uc003gxn.3_Missense_Mutation_p.R213G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	213	Extracellular (Potential).|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			ovary(1)|central_nervous_system(1)	2						CAGAAGGACCTACAGGGCAGG	0.408													C	47746581	T	C	47746581	3	2	272	1	0	0	0	0	1	0	0	0	3752	1521	53	3	2563	3	CORIN	4	47746581	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3056507	47746581	143407695	517	135628											
KDR	3791	broad.mit.edu	37	chr4	55971024	55971024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctcccacatggattggCagaggctgtgggccaagctt	12	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:55971024C>T	uc003has.2	-	13	2075	c.1773G>A	c.(1771-1773)CTG>CTA	p.L591L	KDR_uc003hat.1_Silent_p.L591L|KDR_uc011bzx.1_Silent_p.L591L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	591	Ig-like C2-type 6.|Extracellular (Potential).				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			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	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)	CATGGATTGGCAGAGGCTGTG	0.483			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			T	55971024	C	T	55971024	2	4	272	1	0	0	0	0	0	0	0	1	8139	697	25	2		2	KDR	4	55971024	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8224443	55971024	135183252	518	135629											
EXOC1	55763	broad.mit.edu	37	chr4	56724584	56724584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcaaagcaggaaaaaAgaaaaagaactgttttttat	8	4	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:56724584A>G	uc003hbe.1	+	2	253	c.95A>G	c.(94-96)AAG>AGG	p.K32R	EXOC1_uc003hbf.1_Missense_Mutation_p.K32R|EXOC1_uc003hbg.1_Missense_Mutation_p.K32R	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	32					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GCAGGAAAAAAGAAAAAGAAC	0.338													G	56724584	A	G	56724584	3	3	272	1	0	0	0	0	1	0	0	0	5301	72	3	3	97	3	EXOC1	4	56724584	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	753560	56724584	134429692	519	135630											
LPHN3	23284	broad.mit.edu	37	chr4	62910182	62910182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacccagagccgaatccgTagaatgtggaatgacacggt	11	12	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:62910182T>C	uc010ihh.2	+	22	3698	c.3525T>C	c.(3523-3525)CGT>CGC	p.R1175R	LPHN3_uc003hcq.3_Silent_p.R1175R|LPHN3_uc003hct.2_Silent_p.R559R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1153	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GCCGAATCCGTAGAATGTGGA	0.383													C	62910182	T	C	62910182	2	2	272	1	0	0	0	0	0	0	0	1	8917	1625	57	3		3	LPHN3	4	62910182	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	6185598	62910182	128244094	520	135631											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68688179	68688179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaataaaccaaagccgcCgtgagtcttcttgtactagt	7	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:68688179C>T	uc003hdq.2	-	10	1198	c.1133G>A	c.(1132-1134)CGG>CAG	p.R378Q	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.R159Q|TMPRSS11D_uc011caj.1_Missense_Mutation_p.R261Q	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	378	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CCAAAGCCGCCGTGAGTCTTC	0.468													T	68688179	C	T	68688179	3	4	272	1	0	0	0	0	1	0	0	0	16238	652	23	1	127	1	TMPRSS11D	4	68688179	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5777997	68688179	122466097	521	135632											
UGT2A1	10941	broad.mit.edu	37	chr4	70513145	70513145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaagggcaccctatatAtttcaaatgtcagagatggg	10	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:70513145A>G	uc003hem.3	-	1	281	c.218T>C	c.(217-219)ATA>ACA	p.I73T	UGT2A1_uc011caq.1_Missense_Mutation_p.I73T|UGT2A1_uc010ihu.2_Missense_Mutation_p.I73T|UGT2A1_uc010iht.2_Missense_Mutation_p.I73T	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	73	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						CACCCTATATATTTCAAATGT	0.403													G	70513145	A	G	70513145	3	3	272	1	0	0	0	0	1	0	0	0	16950	449	16	3	1389	3	UGT2A1	4	70513145	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1824966	70513145	120641131	522	135633											
ANKRD17	26057	broad.mit.edu	37	chr4	74027008	74027008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacagacgatgtcaacctcCgaagtacttcaggatctgca	8	11	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:74027008C>T	uc003hgp.2	-	3	722	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	ANKRD17_uc003hgo.2_Missense_Mutation_p.R89Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.R202Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.R202Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	202					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			TGTCAACCTCCGAAGTACTTC	0.458													T	74027008	C	T	74027008	3	4	272	1	0	0	0	0	1	0	0	0	646	652	23	1	7334	1	ANKRD17	4	74027008	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3513863	74027008	117127268	523	135634											
HNRNPD	3184	broad.mit.edu	37	chr4	83276455	83276455	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactatttttagaacatAcctgttggggataagttgca	8	5	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:83276455A>G	uc003hmm.1	-	8	1416	c.1098_splice	c.e8+1		HNRNPD_uc003hml.1_Splice_Site|HNRNPD_uc003hmn.1_Splice_Site|HNRNPD_uc003hmo.1_Splice_Site|HNRNPD_uc003hmp.1_Splice_Site|HNRNPD_uc010ijr.1_3'UTR|HNRNPD_uc011cci.1_3'UTR	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D						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				0						TTTAGAACATACCTGTTGGGG	0.333													G	83276455	A	G	83276455	5	3	272	1	0	0	0	0	0	0	1	0	7264	405	14	3		3	HNRNPD	4	83276455	Splice_Site	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	9249447	83276455	107877821	524	135635											
WDFY3	23001	broad.mit.edu	37	chr4	85678171	85678171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctgcagaaacaaggCcatgaggagaaaatagaggg	15	6	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:85678171C>T	uc003hpd.2	-	33	5740	c.5332G>A	c.(5332-5334)GCC>ACC	p.A1778T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1778						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAACAAGGCCATGAGGAGA	0.502													T	85678171	C	T	85678171	3	4	272	1	0	0	0	0	1	0	0	0	17267	739	26	2	5392	2	WDFY3	4	85678171	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2401716	85678171	105476105	525	135636											
AFF1	4299	broad.mit.edu	37	chr4	87968676	87968677	+	Frame_Shift_Ins	INS	-	-	A													tatcgacagcagacctttgaINSaaaaacagacttgaaagtgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:87968675_87968676G>GA	uc011ccz.2	+	3	1263_1264	c.988_989G>GA	c.(988-990)gaafs	p.E330fs	AFF1_uc011ccx.2_Frame_Shift_Ins_p.E264fs|AFF1_uc003hqh.2_Frame_Shift_Ins_p.E330fs|AFF1_uc011ccy.2_Frame_Shift_Ins_p.E330fs|AFF1_uc003hqj.4_Frame_Shift_Ins_p.E323fs|AFF1_uc003hqk.4_Frame_Shift_Ins_p.E323fs|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	323						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)		GCAGACCTTTGAAAAAACAGAC	0.505													A	87968677	-	A	87968676	7	5	272	1	0	1	1	0	0	0	0	0	356	246	9	0	1020	0	AFF1	4	87968676	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	2290505	87968676	103185600	526	135637											
DMP1	1758	broad.mit.edu	37	chr4	88583826	88583826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgactctacagaaaacaGcaactccagagacactggcc	9	12	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:88583826G>A	uc003hqv.2	+	6	1000	c.896G>A	c.(895-897)AGC>AAC	p.S299N	DMP1_uc003hqw.2_Missense_Mutation_p.S283N	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	299					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACAGAAAACAGCAACTCCAGA	0.473													A	88583826	G	A	88583826	3	1	272	1	0	0	0	0	1	0	0	0	4583	971	34	2	914	2	DMP1	4	88583826	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	615150	88583826	102570450	527	135638											
PKD2	5311	broad.mit.edu	37	chr4	88989084	88989084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcacagttctttaccacGtcccatgagcagccgaagtt	9	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:88989084G>A	uc003hre.2	+	13	2459	c.2393G>A	c.(2392-2394)CGT>CAT	p.R798H	PKD2_uc011cdf.1_Missense_Mutation_p.R216H|PKD2_uc011cdg.1_Missense_Mutation_p.R124H|PKD2_uc011cdh.1_Missense_Mutation_p.R21H	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	798	Cytoplasmic (Potential).					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			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCTTTACCACGTCCCATGAGC	0.527													A	88989084	G	A	88989084	3	1	272	1	0	0	0	0	1	0	0	0	11966	1145	40	1	2443	1	PKD2	4	88989084	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	405258	88989084	102165192	528	135639											
HERC6	55008	broad.mit.edu	37	chr4	89314657	89314657	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtgcaaagcaacaagcctCtctcagtcggtgcactgaag	10	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:89314657C>T	uc011cdi.1	+	5	865	c.682C>T	c.(682-684)CTC>TTC	p.L228F	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.L228F|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	228	RCC1 4.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAACAAGCCTCTCTCAGTCGG	0.388													T	89314657	C	T	89314657	3	4	272	1	0	0	0	0	1	0	0	0	7062	913	32	4	497	4	HERC6	4	89314657	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	325573	89314657	101839619	529	135640											
HERC5	51191	broad.mit.edu	37	chr4	89408222	89408222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatttccatttttaggaCgcttcagaaaatgtacaatg	7	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:89408222C>T	uc003hrt.2	+	15	2007	c.1854C>T	c.(1852-1854)GAC>GAT	p.D618D	HERC5_uc011cdm.1_Silent_p.D256D	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	618					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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTTAGGACGCTTCAGAAA	0.338													T	89408222	C	T	89408222	2	4	272	1	0	0	0	0	0	0	0	1	7061	535	19	1		1	HERC5	4	89408222	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	93565	89408222	101746054	530	135641											
HERC3	8916	broad.mit.edu	37	chr4	89574214	89574214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggggatgaataatgccGggcagctagggctcagtgat	17	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:89574214G>A	uc003hrw.1	+	6	824	c.658G>A	c.(658-660)GGG>AGG	p.G220R	HERC3_uc003hrv.2_Missense_Mutation_p.G220R|HERC3_uc011cdn.1_Missense_Mutation_p.G102R	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	220	RCC1 5.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAATAATGCCGGGCAGCTAGG	0.438													A	89574214	G	A	89574214	3	1	272	1	0	0	0	0	1	0	0	0	7059	1116	39	1	672	1	HERC3	4	89574214	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	165992	89574214	101580062	531	135642											
PDHA2	5161	broad.mit.edu	37	chr4	96761598	96761598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcaggaagcttgttgCgtgggccttgaggccggcat	17	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:96761598C>T	uc003htr.3	+	1	360	c.297C>T	c.(295-297)TGC>TGT	p.C99C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	99					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AAGCTTGTTGCGTGGGCCTTG	0.517													T	96761598	C	T	96761598	2	4	272	1	0	0	0	0	0	0	0	1	11665	776	27	1		1	PDHA2	4	96761598	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7187384	96761598	94392678	532	135643											
DNAJB14	79982	broad.mit.edu	37	chr4	100827771	100827771	+	Splice_Site	DEL	A	A	-													aaaaagaatgtacactacctAaaaaattaaaagcaaggtta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:100827770_100827770TA>T	uc003hvl.3	-	5	789	c.638_splice	c.e5-1	p.G213_splice	DNAJB14_uc003hvk.3_Splice_Site_p.G128_splice|DNAJB14_uc010ili.3_Splice_Site_p.G146_splice	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 14 (DNAJB14), transcript variant 1, mRNA.	213					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GTACACTACCTAAAAAATTAA	0.299													-	100827771	A	-	100827771	8	5	272	1	0	1	0	1	0	0	1	0	4619	377	13	0		0	DNAJB14	4	100827771	Splice_Site	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4066173	100827771	90326505	533	135644											
NPNT	255743	broad.mit.edu	37	chr4	106863786	106863786	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatagcaccagctgccagTacacctccaggagggattac	9	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:106863786T>C	uc003hya.2	+	8	1291	c.1086T>C	c.(1084-1086)AGT>AGC	p.S362S	NPNT_uc011cfc.1_Silent_p.S379S|NPNT_uc011cfd.1_Silent_p.S392S|NPNT_uc011cfe.1_Silent_p.S392S|NPNT_uc010ilt.1_Silent_p.S362S|NPNT_uc011cff.1_Silent_p.S362S|NPNT_uc010ilu.1_Silent_p.S258S	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	362	Pro-rich.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CAGCTGCCAGTACACCTCCAG	0.507													C	106863786	T	C	106863786	2	2	272	1	0	0	0	0	0	0	0	1	10590	1635	57	3		3	NPNT	4	106863786	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	6036015	106863786	84290490	534	135645											
PAPSS1	9061	broad.mit.edu	37	chr4	108615150	108615150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcacagtagtctttcccGctccagacaagcctaaaatt	6	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:108615150G>A	uc003hyk.2	-	3	272	c.188C>T	c.(187-189)GCG>GTG	p.A63V	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	63	Adenylyl-sulfate kinase.|ATP (Potential).				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGTCTTTCCCGCTCCAGACAA	0.368													A	108615150	G	A	108615150	3	1	272	1	0	0	0	0	1	0	0	0	11434	1087	38	1	1726	1	PAPSS1	4	108615150	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1751364	108615150	82539126	535	135646											
LEF1	51176	broad.mit.edu	37	chr4	109000672	109000672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattaggtcactgtcagtgTggggatgttcctgtttgacc	13	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:109000672T>C	uc003hyt.1	-	7	1476	c.821A>G	c.(820-822)CAC>CGC	p.H274R	LEF1_uc011cfj.1_Missense_Mutation_p.H131R|LEF1_uc011cfk.1_Missense_Mutation_p.H178R|LEF1_uc003hyu.1_Missense_Mutation_p.H246R|LEF1_uc003hyv.1_Missense_Mutation_p.H246R|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'Flank|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	274					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 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			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ACTGTCAGTGTGGGGATGTTC	0.502													C	109000672	T	C	109000672	3	2	272	1	0	0	0	0	1	0	0	0	8714	1696	59	3	482	3	LEF1	4	109000672	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	385522	109000672	82153604	536	135647											
COL25A1	84570	broad.mit.edu	37	chr4	109753592	109753593	+	Splice_Site	INS	-	-	A													ataggaccatctgtaccctaINSaaaaaaagataatatgagat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:109753591_109753592T>TA	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						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)		ATCTGTACCCTAAAAAAAAGAT	0.391													A	109753593	-	A	109753592	8	5	272	1	0	1	1	0	0	0	1	0	3684	377	13	0		0	COL25A1	4	109753592	Splice_Site	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	752920	109753592	81400684	537	135648											
ALPK1	80216	broad.mit.edu	37	chr4	113356326	113356326	+	Frame_Shift_Del	DEL	A	A	-													gctcttttgttaaaatattcAaaaaaatctgaactgtggac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:113356325_113356325CA>C	uc003ian.4	+	11	3283	c.3056_3056CA>C	c.(3055-3057)tcafs	p.S1019fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.S1019fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.S941fs|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Frame_Shift_Del_p.S847fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1019	Alpha-type protein kinase.						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)		TTAAAATATTCAAAAAAATCT	0.353													-	113356326	A	-	113356326	7	5	272	1	0	1	0	1	0	0	0	0	544	117	5	0	3095	0	ALPK1	4	113356326	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3602734	113356326	77797950	538	135649											
ANK2	287	broad.mit.edu	37	chr4	114294316	114294316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgatgagcatggacacaCcgtggtaaagaaggtattgt	12	6	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:114294316C>T	uc003ibe.3	+	44	11781	c.11681C>T	c.(11680-11682)ACC>ATC	p.T3894I	ANK2_uc003ibd.3_Missense_Mutation_p.T1800I|ANK2_uc003ibf.3_Missense_Mutation_p.T1809I|ANK2_uc011cgc.1_Missense_Mutation_p.T985I|ANK2_uc003ibg.3_Missense_Mutation_p.T824I|ANK2_uc003ibh.3_Missense_Mutation_p.T514I|ANK2_uc011cgd.1_Missense_Mutation_p.T1196I|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3861					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGACACACCGTGGTAAAG	0.388													T	114294316	C	T	114294316	3	4	272	1	0	0	0	0	1	0	0	0	621	507	18	4	11920	4	ANK2	4	114294316	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	937990	114294316	76859960	539	135650											
CAMK2D	817	broad.mit.edu	37	chr4	114378718	114378718	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttattgcttttggacaaAgctgaaagagaaaaacatga	10	4	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:114378718A>C	uc003ibi.2	-	17	2065	c.1206T>G	c.(1204-1206)GCT>GCG	p.A402A	CAMK2D_uc003ibj.2_Silent_p.A402A|CAMK2D_uc003ibk.2_Silent_p.A402A|CAMK2D_uc003ibo.3_Silent_p.A436A|CAMK2D_uc003ibm.2_Silent_p.A416A|CAMK2D_uc003ibn.2_Silent_p.A413A|CAMK2D_uc003ibl.2_Silent_p.A402A	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	402					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			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTTGGACAAAGCTGAAAGAG	0.353													C	114378718	A	C	114378718	2	2	272	1	0	0	0	0	0	0	0	1	2601	86	3	5		5	CAMK2D	4	114378718	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	84402	114378718	76775558	540	135651											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-													tcccactccgttttctgttcTttttttagaagatctcgacc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					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						GTTTTCTGTTCTTTTTTTAGA	0.388													-	118005517	T	-	118005517	7	5	272	1	0	1	0	1	0	0	0	0	16449	1617	56	0	80	0	TRAM1L1	4	118005517	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3626799	118005517	73148759	541	135652											
SYNPO2	171024	broad.mit.edu	37	chr4	119952894	119952894	+	Frame_Shift_Del	DEL	C	C	-													ccagatgcaaaggatggcctCccccagaagtcatcagtcaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:119952893_119952893TC>T	uc010inb.3	+	3	3159	c.2963_2963TC>T	c.(2962-2964)ctcfs	p.L988fs	SYNPO2_uc010ina.3_Frame_Shift_Del_p.L988fs|SYNPO2_uc003icm.4_Frame_Shift_Del_p.L988fs|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Frame_Shift_Del_p.L916fs|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	988						Z disc|nucleus	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						AAGGATGGCCTCCCCCAGAAG	0.512													-	119952894	C	-	119952894	7	5	272	1	0	1	0	1	0	0	0	0	15454	842	30	0	2978	0	SYNPO2	4	119952894	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1947377	119952894	71201382	542	135653											
TRPC3	7222	broad.mit.edu	37	chr4	122820840	122820840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgagttagactgagtgAagaggtttaactaggaaaaa	11	4	1	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:122820840A>G	uc003ieg.2	-	10	2548	c.2474T>C	c.(2473-2475)TTC>TCC	p.F825S	TRPC3_uc010inr.2_Missense_Mutation_p.F697S|TRPC3_uc003ief.2_Missense_Mutation_p.F752S|TRPC3_uc011cgl.1_Missense_Mutation_p.F489S	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	740	Extracellular (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AGACTGAGTGAAGAGGTTTAA	0.303													G	122820840	A	G	122820840	3	3	272	1	0	0	0	0	1	0	0	0	16576	246	9	3	303	3	TRPC3	4	122820840	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2867946	122820840	68333436	543	135654											
KIAA1109	84162	broad.mit.edu	37	chr4	123283310	123283310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaggagtcatggatccaCtggacaaggttctgtcagtt	12	7	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:123283310C>T	uc003ieh.2	+	84	14971	c.14926C>T	c.(14926-14928)CTG>TTG	p.L4976L	KIAA1109_uc003iem.2_Silent_p.L1332L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4976					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CATGGATCCACTGGACAAGGT	0.378													T	123283310	C	T	123283310	2	4	272	1	0	0	0	0	0	0	0	1	8208	564	20	4		4	KIAA1109	4	123283310	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	462470	123283310	67870966	544	135655											
FGF2	2247	broad.mit.edu	37	chr4	123748453	123748453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgggggcttcttcctgCgcatccaccccgacggccga	11	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:123748453C>T	uc003iev.1	+	1	591	c.523C>T	c.(523-525)CGC>TGC	p.R175C		NM_002006	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2	175					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			ovary(1)|lung(1)|central_nervous_system(1)	3					Pentosan Polysulfate(DB00686)	CTTCTTCCTGCGCATCCACCC	0.667													T	123748453	C	T	123748453	3	4	272	1	0	0	0	0	1	0	0	0	5848	768	27	1	525	1	FGF2	4	123748453	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	465143	123748453	67405823	545	135656											
SPATA5	166378	broad.mit.edu	37	chr4	123855712	123855712	+	Frame_Shift_Del	DEL	T	T	-													gcaaagtgcaatactgatacTttttattttatttcttcaac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:123855711_123855711CT>C	uc003iez.4	+	4	1038	c.965_965CT>C	c.(964-966)actfs	p.T322fs	SPATA5_uc003iey.3_Frame_Shift_Del_p.T321fs	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	322					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						AATACTGATACTTTTTATTTT	0.313													-	123855712	T	-	123855712	7	5	272	1	0	1	0	1	0	0	0	0	15010	1596	56	0	984	0	SPATA5	4	123855712	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	107259	123855712	67298564	546	135657											
PCDH10	57575	broad.mit.edu	37	chr4	134073077	134073077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgctgccccgctcggcGgagccgggttacctgctcac	15	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:134073077G>A	uc003iha.2	+	1	2608	c.1782G>A	c.(1780-1782)GCG>GCA	p.A594A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A594A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	594	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCGCTCGGCGGAGCCGGGTT	0.657													A	134073077	G	A	134073077	2	1	272	1	0	0	0	0	0	0	0	1	11507	1103	39	1		1	PCDH10	4	134073077	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10217365	134073077	57081199	547	135658											
UCP1	7350	broad.mit.edu	37	chr4	141483361	141483361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaccccttgaagaaagcCgttggtccttcgttagtgaa	9	10	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:141483361C>T	uc011chj.1	-	5	871	c.795G>A	c.(793-795)ACG>ACA	p.T265T	UCP1_uc011chk.1_Silent_p.T264T	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	265	Solcar 3.				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)					TGAAGAAAGCCGTTGGTCCTT	0.433													T	141483361	C	T	141483361	2	4	272	1	0	0	0	0	0	0	0	1	16927	639	23	1		1	UCP1	4	141483361	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7410284	141483361	49670915	548	135659											
GAB1	2549	broad.mit.edu	37	chr4	144336783	144336783	+	Frame_Shift_Del	DEL	A	A	-													atgctggattgacatttaacAaaaaagagtttgaaaacagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:144336782_144336782CA>C	uc003ijd.3	+	1	584	c.225_225CA>C	c.(223-225)aacfs	p.N75fs	GAB1_uc003ije.3_Frame_Shift_Del_p.N75fs|GAB1_uc011chq.2_5'UTR	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	75	PH.				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)					TGACATTTAACAAAAAAGAGT	0.338													-	144336783	A	-	144336783	7	5	272	1	0	1	0	1	0	0	0	0	6148	131	5	0	232	0	GAB1	4	144336783	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2853422	144336783	46817493	549	135660											
OTUD4	54726	broad.mit.edu	37	chr4	146059083	146059083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggatggaagccaatgcCgtatctgcctttcgtgtctg	14	9	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:146059083C>T	uc003ika.3	-	21	2787	c.2649G>A	c.(2647-2649)ACG>ACA	p.T883T	OTUD4_uc003ijz.3_Silent_p.T882T	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	947							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AAGCCAATGCCGTATCTGCCT	0.517													T	146059083	C	T	146059083	2	4	272	1	0	0	0	0	0	0	0	1	11314	639	23	1		1	OTUD4	4	146059083	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1722300	146059083	45095193	550	135661											
SLC10A7	84068	broad.mit.edu	37	chr4	147215169	147215169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttgtgtagatgatcaTgaggagtacactgctgctga	13	5	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:147215169T>C	uc010ioz.2	-	8	888	c.634A>G	c.(634-636)ATG>GTG	p.M212V	SLC10A7_uc003ikr.2_Missense_Mutation_p.M212V|SLC10A7_uc010ipa.2_Missense_Mutation_p.M199V|SLC10A7_uc003iks.2_Intron	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	212	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)					TAGATGATCATGAGGAGTACA	0.403													C	147215169	T	C	147215169	3	2	272	1	0	0	0	0	1	0	0	0	14379	1464	51	3	408	3	SLC10A7	4	147215169	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1156086	147215169	43939107	551	135662											
NR3C2	4306	broad.mit.edu	37	chr4	149357438	149357438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagggctgcaaacagacGggcttttctcatgacacatg	11	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:149357438G>A	uc003ilj.3	-	2	909	c.575C>T	c.(574-576)CCG>CTG	p.P192L	NR3C2_uc003ilk.3_Missense_Mutation_p.P192L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	192	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCAAACAGACGGGCTTTTCTC	0.522													A	149357438	G	A	149357438	3	1	272	1	0	0	0	0	1	0	0	0	10631	1116	39	1	2411	1	NR3C2	4	149357438	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2142269	149357438	41796838	552	135663											
LRBA	987	broad.mit.edu	37	chr4	151199033	151199033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagacagcgccatggcccGgattccagcgtcacatcctg	11	14	1	1	rs143351602	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:151199033G>A	uc010ipj.2	-	57	8947	c.8473C>T	c.(8473-8475)CGG>TGG	p.R2825W	LRBA_uc010ipi.2_Missense_Mutation_p.R347W|LRBA_uc003ils.3_Missense_Mutation_p.R720W|LRBA_uc003ilt.3_Missense_Mutation_p.R1473W|LRBA_uc003ilu.3_Missense_Mutation_p.R2813W|LRBA_uc003ilr.3_Missense_Mutation_p.R245W	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2825	WD 6.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					GCCATGGCCCGGATTCCAGCG	0.502													A	151199033	G	A	151199033	3	1	272	1	0	0	0	0	1	0	0	0	8931	1115	39	1	126	1	LRBA	4	151199033	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1841595	151199033	39955243	553	135664											
DCHS2	54798	broad.mit.edu	37	chr4	155256133	155256134	+	Frame_Shift_Ins	INS	-	-	A													aggtgccagagttgtctggaINSaaatgtgtatggtgacatcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:155256132_155256133G>GA	uc003inw.2	-	7	1103_1104	c.1103_1104C>TC	c.(1102-1104)ttcfs	p.F368fs	DCHS2_uc003inx.2_Frame_Shift_Ins_p.F867fs	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	368	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F368L(2)		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)		GAGTTGTCTGGAAAATGTGTAT	0.446													A	155256134	-	A	155256133	7	5	272	1	0	1	1	0	0	0	0	0	4288	246	9	0	7815	0	DCHS2	4	155256133	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	4057100	155256133	35898143	554	135665											
FGA	2243	broad.mit.edu	37	chr4	155507087	155507087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctatgccagacaatgtGcctaaatccattgcctcggg	9	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:155507087G>A	uc003iod.1	-	5	1552	c.1494C>T	c.(1492-1494)GGC>GGT	p.G498G	FGA_uc003ioe.1_Silent_p.G498G|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	498	By similarity.				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			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGACAATGTGCCTAAATCCA	0.483													A	155507087	G	A	155507087	2	1	272	1	0	0	0	0	0	0	0	1	5830	1306	46	2		2	FGA	4	155507087	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	250954	155507087	35647189	555	135666											
FGG	2266	broad.mit.edu	37	chr4	155527932	155527932	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccatcctgttcagcacAgttgccttcaaacttatcat	5	12	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:155527932A>C	uc003ioj.2	-	8	1195	c.1054T>G	c.(1054-1056)TGT>GGT	p.C352G	FGG_uc003iog.2_Missense_Mutation_p.C352G|FGG_uc003ioh.2_Missense_Mutation_p.C360G|FGG_uc010ipx.2_Missense_Mutation_p.C180G|FGG_uc010ipy.2_Missense_Mutation_p.C63G|FGG_uc003ioi.2_Missense_Mutation_p.C63G|FGG_uc003iok.2_Missense_Mutation_p.C360G	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	352	|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				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGTTCAGCACAGTTGCCTTCA	0.423													C	155527932	A	C	155527932	3	2	272	1	0	0	0	0	1	0	0	0	5870	188	7	5	334	5	FGG	4	155527932	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	20845	155527932	35626344	556	135667											
RXFP1	59350	broad.mit.edu	37	chr4	159533352	159533352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcacagactagaatggCtgtatgtttaatttatgtgg	9	5	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:159533352C>T	uc003ipz.2	+	7	689	c.607C>T	c.(607-609)CTG>TTG	p.L203L	RXFP1_uc010iqj.1_Silent_p.L32L|RXFP1_uc011cja.1_Silent_p.L122L|RXFP1_uc010iqo.2_Silent_p.L203L|RXFP1_uc011cjb.1_Silent_p.L149L|RXFP1_uc010iqk.2_Silent_p.L71L|RXFP1_uc011cjc.1_Silent_p.L122L|RXFP1_uc011cjd.1_Silent_p.L122L|RXFP1_uc010iql.2_Silent_p.L71L|RXFP1_uc011cje.1_Silent_p.L230L|RXFP1_uc010iqm.2_Silent_p.L170L|RXFP1_uc011cjf.1_Silent_p.L73L|RXFP1_uc010iqn.2_Silent_p.L149L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	203	LRR 3.|Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACTAGAATGGCTGTATGTTTA	0.313													T	159533352	C	T	159533352	2	4	272	1	0	0	0	0	0	0	0	1	13759	811	28	2		2	RXFP1	4	159533352	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4005420	159533352	31620924	557	135668											
PALLD	23022	broad.mit.edu	37	chr4	169433473	169433473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagctgcacctcgatTcatccaaaagctgaggagcc	8	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:169433473T>C	uc011cjx.1	+	2	1029	c.818T>C	c.(817-819)TTC>TCC	p.F273S	PALLD_uc003iru.2_Missense_Mutation_p.F273S	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	273	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCACCTCGATTCATCCAAAAG	0.547									Pancreatic_Cancer_Familial_Clustering_of				C	169433473	T	C	169433473	3	2	272	1	0	0	0	0	1	0	0	0	11407	1783	62	3	820	3	PALLD	4	169433473	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	9900121	169433473	21720803	558	135669											
SH3RF1	57630	broad.mit.edu	37	chr4	170041971	170041971	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtattcaaaaccataccTtgtgactggtgccacataat	6	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:170041971T>G	uc003isa.1	-	8	1851	c.1516A>C	c.(1516-1518)AGG>CGG	p.R506R	SH3RF1_uc010irc.1_Silent_p.R206R	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	506	SH3 3.|Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AAACCATACCTTGTGACTGGT	0.413													G	170041971	T	G	170041971	2	3	272	1	0	0	0	0	0	0	0	1	14258	1623	56	5		5	SH3RF1	4	170041971	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	608498	170041971	21112305	559	135670											
SPATA4	132851	broad.mit.edu	37	chr4	177116614	177116614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacacttcttaggcctccCtcggatgggagctgctagct	11	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:177116614C>A	uc003iuo.1	-	1	209	c.100G>T	c.(100-102)GGG>TGG	p.G34W		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	34					apoptosis|spermatogenesis						0		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)		TTAGGCCTCCCTCGGATGGGA	0.582													A	177116614	C	A	177116614	3	1	272	1	0	0	0	0	1	0	0	0	15009	681	24	5	841	5	SPATA4	4	177116614	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7074643	177116614	14037662	560	135671											
LRP2BP	55805	broad.mit.edu	37	chr4	186294142	186294142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcttccgtatcctgcCggatgccttgtccatacaag	11	13	0	0	rs140807270		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:186294142C>T	uc003ixj.1	-	6	1483	c.671G>A	c.(670-672)CGG>CAG	p.R224Q	LRP2BP_uc003ixk.1_Missense_Mutation_p.R198Q|LRP2BP_uc011ckr.1_Missense_Mutation_p.R224Q	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	224	Sel1-like 4.					cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CGTATCCTGCCGGATGCCTTG	0.488													T	186294142	C	T	186294142	3	4	272	1	0	0	0	0	1	0	0	0	8957	652	23	1	384	1	LRP2BP	4	186294142	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	9177528	186294142	4860134	561	135672											
TRIML1	339976	broad.mit.edu	37	chr4	189061103	189061103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcatctctccagcgagGctgaggagcatcacagagta	13	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:189061103G>A	uc003izm.1	+	1	506	c.391G>A	c.(391-393)GCT>ACT	p.A131T		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	131					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		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)		CTCCAGCGAGGCTGAGGAGCA	0.572													A	189061103	G	A	189061103	3	1	272	1	0	0	0	0	1	0	0	0	16547	1203	42	2	393	2	TRIML1	4	189061103	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2766961	189061103	2093173	562	135673											
PLEKHG4B	153478	broad.mit.edu	37	chr5	169524	169524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacattcggtgcttaggataCgtcattgacaactattttcc	7	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:169524C>T	uc003jak.2	+	12	2528	c.2478C>T	c.(2476-2478)TAC>TAT	p.Y826Y		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	826	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTTAGGATACGTCATTGACA	0.537													T	169524	C	T	169524	2	4	272	1	0	0	0	0	0	0	0	1	12072	547	19	1		1	PLEKHG4B	5	169524	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		169524	180745736	563	135674											
LRRC14B	389257	broad.mit.edu	37	chr5	192197	192197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaggccagcgggcccgGcccctctgcgggtgcactgc	15	17	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:192197G>A	uc003jal.1	+	1	572	c.544G>A	c.(544-546)GCC>ACC	p.A182T		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	182										skin(1)	1						AGCGGGCCCGGCCCCTCTGCG	0.741													A	192197	G	A	192197	3	1	272	1	0	0	0	0	1	0	0	0	8969	1203	42	2	546	2	LRRC14B	5	192197	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	22673	192197	180723063	564	135675											
SDHA	6389	broad.mit.edu	37	chr5	240501	240501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctccaattaaaccaaaCgctggggaagaatctgtcat	8	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:240501C>T	uc003jao.3	+	11	1576	c.1461C>T	c.(1459-1461)AAC>AAT	p.N487N	SDHA_uc011clv.1_Silent_p.N487N|SDHA_uc011clw.1_Silent_p.N439N|SDHA_uc003jap.3_Silent_p.N487N|SDHA_uc003jaq.3_Silent_p.N262N|SDHA_uc003jar.3_Silent_p.N81N	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	487					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				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TTAAACCAAACGCTGGGGAAG	0.368									Familial_Paragangliomas				T	240501	C	T	240501	2	4	272	1	0	0	0	0	0	0	0	1	13963	535	19	1		1	SDHA	5	240501	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	48304	240501	180674759	565	135676											
AHRR	57491	broad.mit.edu	37	chr5	434622	434622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatctcgcacctggggcaCggcgtgcggggggctcagcc	16	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:434622C>T	uc003jav.2	+	12	1877	c.1833C>T	c.(1831-1833)CAC>CAT	p.H611H	AHRR_uc003jaw.2_Silent_p.H589H|AHRR_uc010isy.2_Silent_p.H439H|AHRR_uc010isz.2_Silent_p.H589H|AHRR_uc003jax.2_Silent_p.H352H|AHRR_uc003jay.2_Silent_p.H449H|AHRR_uc003jaz.2_Silent_p.H210H	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	593	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACCTGGGGCACGGCGTGCGGG	0.667													T	434622	C	T	434622	2	4	272	1	0	0	0	0	0	0	0	1	417	535	19	1		1	AHRR	5	434622	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	194121	434622	180480638	566	135677											
IRX4	50805	broad.mit.edu	37	chr5	1878803	1878803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaccgccgtccagggaGtggaagggcggcttcagctc	15	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:1878803G>A	uc003jcz.2	-	5	959	c.840C>T	c.(838-840)CAC>CAT	p.H280H	IRX4_uc011cmf.1_Silent_p.H141H	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	280					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		CGTCCAGGGAGTGGAAGGGCG	0.711													A	1878803	G	A	1878803	2	1	272	1	0	0	0	0	0	0	0	1	7846	1020	36	4		4	IRX4	5	1878803	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1444181	1878803	179036457	567	135678											
TRIO	7204	broad.mit.edu	37	chr5	14488310	14488310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggcaaggatactgacCgcatgagcacgtgctcctcg	11	15	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:14488310C>T	uc003jff.2	+	48	7579	c.7573C>T	c.(7573-7575)CGC>TGC	p.R2525C	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.R2174C	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2525					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GGATACTGACCGCATGAGCAC	0.741													T	14488310	C	T	14488310	3	4	272	1	0	0	0	0	1	0	0	0	16549	652	23	1	7763	1	TRIO	5	14488310	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	12609507	14488310	166426950	568	135679											
ANKH	56172	broad.mit.edu	37	chr5	14746035	14746035	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaccagccgtatggcatgtGacccacagggtatgtggctg	13	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:14746035G>A	uc003jfm.3	-	7	1190	c.859C>T	c.(859-861)CAC>TAC	p.H287Y	ANKH_uc003jfl.3_5'UTR	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	287	Cytoplasmic (Potential).				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			upper_aerodigestive_tract(1)	1						TATGGCATGTGACCCACAGGG	0.532													A	14746035	G	A	14746035	3	1	272	1	0	0	0	0	1	0	0	0	627	1290	45	4	643	4	ANKH	5	14746035	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	257725	14746035	166169225	569	135680											
CDH18	1016	broad.mit.edu	37	chr5	19612580	19612580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggttgtcattgacatcggtTaaggtgatgttgactgttgt	14	4	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:19612580T>A	uc003jgc.2	-	5	1151	c.774A>T	c.(772-774)TTA>TTT	p.L258F	CDH18_uc003jgd.2_Missense_Mutation_p.L258F|CDH18_uc011cnm.1_Missense_Mutation_p.L258F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	258	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGACATCGGTTAAGGTGATGT	0.393													A	19612580	T	A	19612580	3	1	272	1	0	0	0	0	1	0	0	0	3103	1751	61	5	1630	5	CDH18	5	19612580	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	4866545	19612580	161302680	570	135681											
CDH18	1016	broad.mit.edu	37	chr5	19747115	19747115	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattttggagcgttgtcAttgatgtcttgcactttgat	11	5	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:19747115A>G	uc003jgc.2	-	3	836	c.459T>C	c.(457-459)AAT>AAC	p.N153N	CDH18_uc003jgd.2_Silent_p.N153N|CDH18_uc011cnm.1_Silent_p.N153N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	153	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAGCGTTGTCATTGATGTCTT	0.383													G	19747115	A	G	19747115	2	3	272	1	0	0	0	0	0	0	0	1	3103	214	8	3		3	CDH18	5	19747115	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	134535	19747115	161168145	571	135682											
PRDM9	56979	broad.mit.edu	37	chr5	23526448	23526448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcctctcagaacttcccAggaccatctgcaagaaaact	5	15	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:23526448A>G	uc003jgo.2	+	11	1433	c.1251A>G	c.(1249-1251)CCA>CCG	p.P417P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	417					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAACTTCCCAGGACCATCTG	0.483										HNSCC(3;0.000094)			G	23526448	A	G	23526448	2	3	272	1	0	0	0	0	0	0	0	1	12463	175	7	3		3	PRDM9	5	23526448	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3779333	23526448	157388812	572	135683											
ADAMTS12	81792	broad.mit.edu	37	chr5	33549373	33549374	+	Frame_Shift_Ins	INS	-	-	G													gttacagctcatgctcaatgINSggggaggaatgccggccagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:33549372_33549373T>TG	uc003jia.1	-	20	4404_4405	c.4241_4242A>CA	c.(4240-4242)ccafs	p.P1414fs	ADAMTS12_uc010iuq.1_Frame_Shift_Ins_p.P1329fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1414	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1413P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCATGCTCAATGGGGGAGGAAT	0.609										HNSCC(64;0.19)			G	33549374	-	G	33549373	7	5	272	1	0	1	1	0	0	0	0	0	257	1348	47	0	559	0	ADAMTS12	5	33549373	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	10022925	33549373	147365887	573	135684											
RXFP3	51289	broad.mit.edu	37	chr5	33938198	33938198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctactacccacctggCgtcgtggtctacagcggggg	13	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:33938198C>T	uc003jic.1	+	1	1710	c.1353C>T	c.(1351-1353)GGC>GGT	p.G451G		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	451	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ACCCACCTGGCGTCGTGGTCT	0.597													T	33938198	C	T	33938198	2	4	272	1	0	0	0	0	0	0	0	1	13761	755	27	1		1	RXFP3	5	33938198	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	388825	33938198	146977062	574	135685											
C5orf42	65250	broad.mit.edu	37	chr5	37108533	37108534	+	Frame_Shift_Ins	INS	-	-	T													caagcccagcacttccatgtINSttttttgtatgctgcagact							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:37108532_37108533G>GT	uc011cpa.1	-	50	9510_9511	c.9279_9280C>AC	c.(9277-9282)aaacatfs	p.K3093fs	C5orf42_uc003jko.1_Frame_Shift_Ins_p.K124fs|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Frame_Shift_Ins_p.K1611fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Ins_p.K2186fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3093										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)			GCACTTCCATGTTTTTTTGTAT	0.431													T	37108534	-	T	37108533	7	5	272	1	0	1	1	0	0	0	0	0	2301	1722	60	0	322	0	C5orf42	5	37108533	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	3170335	37108533	143806727	575	135686											
EGFLAM	133584	broad.mit.edu	37	chr5	38406315	38406315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaggatttgaagacgActtagatttggatatttcct	10	4	0	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:38406315A>G	uc003jlc.1	+	7	1124	c.800A>G	c.(799-801)GAC>GGC	p.D267G	EGFLAM_uc003jlb.1_Missense_Mutation_p.D267G|EGFLAM_uc003jle.1_Missense_Mutation_p.D33G|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	267						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TTTGAAGACGACTTAGATTTG	0.458													G	38406315	A	G	38406315	3	3	272	1	0	0	0	0	1	0	0	0	4966	275	10	3	840	3	EGFLAM	5	38406315	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1297782	38406315	142508945	576	135687											
RICTOR	253260	broad.mit.edu	37	chr5	38975690	38975690	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttactggctagaaatcGtgcttctctgtcttctctgt	7	10	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:38975690G>A	uc003jlp.2	-	10	862	c.838C>T	c.(838-840)CGA>TGA	p.R280*	RICTOR_uc003jlo.2_Nonsense_Mutation_p.R280*|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Nonsense_Mutation_p.R264*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	280					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			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GCTAGAAATCGTGCTTCTCTG	0.398													A	38975690	G	A	38975690	4	1	272	1	0	0	0	0	0	1	0	0	13358	1153	40	1	4404	1	RICTOR	5	38975690	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	569375	38975690	141939570	577	135688											
HEATR7B2	133558	broad.mit.edu	37	chr5	41004501	41004501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttgaagtagaagctcaCgtctcggtctgtcagcagct	10	11	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:41004501C>T	uc003jmj.3	-	37	4631	c.4141G>A	c.(4141-4143)GTG>ATG	p.V1381M	HEATR7B2_uc003jmi.3_Missense_Mutation_p.V936M	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1381	HEAT 15.						binding			ovary(6)|central_nervous_system(2)	8						TAGAAGCTCACGTCTCGGTCT	0.463													T	41004501	C	T	41004501	3	4	272	1	0	0	0	0	1	0	0	0	7035	536	19	1	640	1	HEATR7B2	5	41004501	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2028811	41004501	139910759	578	135689											
C5orf51	285636	broad.mit.edu	37	chr5	41904537	41904537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctggctcaggcccacaTacagcaacttagcgaagctg	11	12	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:41904537T>C	uc003jmo.2	+	1	68	c.68T>C	c.(67-69)ATA>ACA	p.I23T		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	hypothetical protein LOC285636	23											0						CAGGCCCACATACAGCAACTT	0.657													C	41904537	T	C	41904537	3	2	272	1	0	0	0	0	1	0	0	0	2308	1406	49	3	70	3	C5orf51	5	41904537	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	900036	41904537	139010723	579	135690											
ZNF131	7690	broad.mit.edu	37	chr5	43161931	43161931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttgaagaaggtggagtcAgtaagaagcaaagaactggg	14	5	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:43161931A>G	uc011cpw.1	+	5	988	c.952A>G	c.(952-954)AGT>GGT	p.S318G	ZNF131_uc010ivl.1_Missense_Mutation_p.S284G|ZNF131_uc003jnj.3_Missense_Mutation_p.S39G|ZNF131_uc003jnk.2_Missense_Mutation_p.S284G|ZNF131_uc003jnn.3_Missense_Mutation_p.S39G|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	318						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGGTGGAGTCAGTAAGAAGCA	0.373													G	43161931	A	G	43161931	3	3	272	1	0	0	0	0	1	0	0	0	17718	188	7	3	868	3	ZNF131	5	43161931	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1257394	43161931	137753329	580	135691											
MGC42105	167359	broad.mit.edu	37	chr5	43245938	43245938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccactatgcccggtgggatCggcgcgacagtgtagaaagt	14	11	0	1	rs55664335		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:43245938C>T	uc003jno.2	+	2	942	c.61C>T	c.(61-63)CGG>TGG	p.R21W		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	21			R -> W.				ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						CCGGTGGGATCGGCGCGACAG	0.602													T	43245938	C	T	43245938	3	4	272	1	0	0	0	0	1	0	0	0	9552	875	31	1	63	1	MGC42105	5	43245938	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	84007	43245938	137669322	581	135692											
NDUFS4	4724	broad.mit.edu	37	chr5	52954391	52954391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacagggctgatcccTtatccaacatggttctaacc	6	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:52954391T>G	uc003jpe.2	+	4	389	c.361T>G	c.(361-363)TTA>GTA	p.L121V		NM_002495	NP_002486	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4	121					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	GGCTGATCCCTTATCCAACAT	0.303													G	52954391	T	G	52954391	3	3	272	1	0	0	0	0	1	0	0	0	10294	1606	56	5	375	5	NDUFS4	5	52954391	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	9708453	52954391	127960869	582	135693											
SKIV2L2	23517	broad.mit.edu	37	chr5	54701406	54701415	+	Frame_Shift_Del	DEL	GAGATAAGCA	GAGATAAGCA	-													tgaaaggacgagtggcttgtGagataagcaggtaaaatctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:54701405_54701414TGAGATAAGCA>T	uc003jpy.4	+	21	2900_2909	c.2634_2643TGAGATAAGCA>T	c.(2632-2643)tgtgagataagcfs	p.C878fs	SKIV2L2_uc011cqi.2_Frame_Shift_Del_p.C777fs	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	878					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E879*(2)		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)				GAGTGGCTTGTGAGATAAGCAGGTAAAATC	0.329													-	54701415	GAGATAAGCA	-	54701406	7	5	272	1	0	1	0	1	0	0	0	0	14360	1291	45	0	2721	0	SKIV2L2	5	54701406	Frame_Shift_Del	DEL	GAGATAAGCA	TCGA-HU-A4GQ-01A-11D-A25D-08	1747015	54701406	126213854	583	135694											
PPAP2A	8611	broad.mit.edu	37	chr5	54737726	54737728	+	In_Frame_Del	DEL	AGA	AGA	-													aaacgaagagtggcctgaatAgaaggacaacctggaagaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:54737725_54737727TAGA>T	uc003jpz.3	-	3	920_922	c.504_506TCTA>A	c.(502-507)ttctat>ttAt	p.168_169FY>L	PPAP2A_uc003jqa.3_In_Frame_Del_p.167_168FY>L|PPAP2A_uc003jqb.3_Non-coding_Transcript	NM_176895	NP_795714	O14494	LPP1_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2A (PPAP2A), transcript variant 2, mRNA.	167					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)				GTGGCCTGAATAGAAGGACAACC	0.389													-	54737728	AGA	-	54737726	7	5	272	1	0	1	0	1	0	0	0	0	12290	420	15	0	364	0	PPAP2A	5	54737726	In_Frame_Del	DEL	AGA	TCGA-HU-A4GQ-01A-11D-A25D-08	36320	54737726	126177534	584	135695											
HTR1A	3350	broad.mit.edu	37	chr5	63256825	63256825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgggagatgctccatggCgggtgtccgctccggtcttc	17	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:63256825C>T	uc011cqt.1	-	1	722	c.722G>A	c.(721-723)CGC>CAC	p.R241H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	241	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		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)	TGCTCCATGGCGGGTGTCCGC	0.627													T	63256825	C	T	63256825	3	4	272	1	0	0	0	0	1	0	0	0	7436	768	27	1	549	1	HTR1A	5	63256825	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8519099	63256825	117658435	585	135696											
NLN	57486	broad.mit.edu	37	chr5	65118659	65118659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacctgggggatctctggaCggcatggacatgctccacaa	12	11	1	0	rs148323761		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:65118659C>T	uc003juf.2	+	13	2147	c.2031C>T	c.(2029-2031)GAC>GAT	p.D677D	NLN_uc003jug.2_Silent_p.D506D|NLN_uc010iww.2_Silent_p.D354D	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	677					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		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)		GATCTCTGGACGGCATGGACA	0.418													T	65118659	C	T	65118659	2	4	272	1	0	0	0	0	0	0	0	1	10467	535	19	1		1	NLN	5	65118659	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1861834	65118659	115796601	586	135697											
ERBB2IP	55914	broad.mit.edu	37	chr5	65344494	65344494	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacccccttttcactaGgaatctgaagaactttcttc	4	15	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:65344494G>A	uc003juk.1	+	19	2097	c.1789_splice	c.e19-1	p.E597_splice	ERBB2IP_uc003juh.1_Splice_Site_p.E593_splice|ERBB2IP_uc003jui.1_Splice_Site_p.E597_splice|ERBB2IP_uc003juj.1_Splice_Site_p.E597_splice|ERBB2IP_uc011cqx.1_Splice_Site_p.E597_splice|ERBB2IP_uc011cqy.1_Splice_Site_p.E597_splice|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Splice_Site_p.E593_splice|ERBB2IP_uc003jul.1_Splice_Site_p.E593_splice	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2						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			ovary(3)|lung(2)|central_nervous_system(2)	7		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)		CTTTTCACTAGGAATCTGAAG	0.308													A	65344494	G	A	65344494	5	1	272	1	0	0	0	0	0	0	1	0	5207	1014	35	4	1854	4	ERBB2IP	5	65344494	Splice_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	225835	65344494	115570766	587	135698											
MAST4	375449	broad.mit.edu	37	chr5	66459182	66459182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccccgcaacccacctcccCgcagcggtcaccatcccctc	5	24	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:66459182C>T	uc003jut.1	+	28	3676	c.3608C>T	c.(3607-3609)CCG>CTG	p.P1203L	MAST4_uc003juw.2_Missense_Mutation_p.P1131L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1395						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	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)		CCCACCTCCCCGCAGCGGTCA	0.667													T	66459182	C	T	66459182	3	4	272	1	0	0	0	0	1	0	0	0	9327	652	23	1	4419	1	MAST4	5	66459182	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1114688	66459182	114456078	588	135699											
MARVELD2	153562	broad.mit.edu	37	chr5	68715240	68715240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatggaagatccaggaatCgggacaggcgctacgatgag	15	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:68715240C>T	uc003jwq.2	+	2	87	c.28C>T	c.(28-30)CGG>TGG	p.R10W	MARVELD2_uc010ixf.2_Missense_Mutation_p.R10W|MARVELD2_uc003jwr.1_Missense_Mutation_p.R10W|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	10	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		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)		ATCCAGGAATCGGGACAGGCG	0.463													T	68715240	C	T	68715240	3	4	272	1	0	0	0	0	1	0	0	0	9318	875	31	1	30	1	MARVELD2	5	68715240	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2256058	68715240	112200020	589	135700											
MARVELD2	153562	broad.mit.edu	37	chr5	68716108	68716108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatttggaattaacgttgCcttgtttattttgtatatgg	9	3	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:68716108C>T	uc003jwq.2	+	2	955	c.896C>T	c.(895-897)GCC>GTC	p.A299V	MARVELD2_uc010ixf.2_Missense_Mutation_p.A299V|MARVELD2_uc003jwr.1_Missense_Mutation_p.A299V|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	299	MARVEL.|Helical; (Potential).				sensory perception of sound	integral to membrane|tight junction					0		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)		ATTAACGTTGCCTTGTTTATT	0.423													T	68716108	C	T	68716108	3	4	272	1	0	0	0	0	1	0	0	0	9318	739	26	2	898	2	MARVELD2	5	68716108	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	868	68716108	112199152	590	135701											
MARVELD2	153562	broad.mit.edu	37	chr5	68728392	68728392	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacagacaaagagactcAgaagttaatttcaaggaact	10	6	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:68728392A>G	uc003jwq.2	+	4	1280	c.1221A>G	c.(1219-1221)TCA>TCG	p.S407S	MARVELD2_uc010ixf.2_Silent_p.S395S|MARVELD2_uc003jwr.1_Silent_p.S407S|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	407	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		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)		AAAGAGACTCAGAAGTTAATT	0.423													G	68728392	A	G	68728392	2	3	272	1	0	0	0	0	0	0	0	1	9318	175	7	3		3	MARVELD2	5	68728392	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	12284	68728392	112186868	591	135702											
BDP1	55814	broad.mit.edu	37	chr5	70782336	70782336	+	Frame_Shift_Del	DEL	T	T	-													aagcgcccttttgacttcgaTttttttgctcatttgcttca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:70782335_70782335AT>A	uc003kbp.1	+	8	1357	c.1094_1094AT>A	c.(1093-1095)gatfs	p.D365fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.D365fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.D365fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	365	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D365N(1)		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)		TTTGACTTCGATTTTTTTGCT	0.299													-	70782336	T	-	70782336	7	5	272	1	0	1	0	1	0	0	0	0	1395	1490	52	0	1129	0	BDP1	5	70782336	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2053944	70782336	110132924	592	135703											
PAPD4	167153	broad.mit.edu	37	chr5	78936673	78936673	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttttgcggtggattcaaGttgagtcagcagatactgga	12	5	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:78936673G>A	uc010jae.1	+	6	884	c.466_splice	c.e6-1	p.L156_splice	PAPD4_uc003kgb.2_Splice_Site_p.L156_splice|PAPD4_uc010jaf.1_Splice_Site_p.L156_splice|PAPD4_uc003kga.2_Splice_Site_p.L156_splice|PAPD4_uc003kfz.2_Splice_Site_p.L156_splice	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4						histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GTGGATTCAAGTTGAGTCAGC	0.328													A	78936673	G	A	78936673	5	1	272	1	0	0	0	0	0	0	1	0	11424	1043	36	4	479	4	PAPD4	5	78936673	Splice_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	8154337	78936673	101978587	593	135704											
CMYA5	202333	broad.mit.edu	37	chr5	79030432	79030432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagaaagcaggtcctgccGcattctgctgaagaatctca	11	10	2	3	rs142351624	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:79030432G>A	uc003kgc.2	+	2	5916	c.5844G>A	c.(5842-5844)CCG>CCA	p.P1948P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1948						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		AGGTCCTGCCGCATTCTGCTG	0.463													A	79030432	G	A	79030432	2	1	272	1	0	0	0	0	0	0	0	1	3590	1074	38	1		1	CMYA5	5	79030432	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	93759	79030432	101884828	594	135705											
SSBP2	23635	broad.mit.edu	37	chr5	80769592	80769592	+	Splice_Site	DEL	A	A	-													cacccatatttggatgtcctAaaaaaagtatgaagacatta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:80769591_80769591TA>T	uc003khp.3	-	8	711	c.500_splice	c.e8-1	p.G167_splice	SSBP2_uc003khn.3_Splice_Site_p.G41_splice|SSBP2_uc011ctr.2_Splice_Site_p.G137_splice|SSBP2_uc003kho.3_Splice_Site_p.G167_splice|SSBP2_uc011ctp.2_Splice_Site_p.G147_splice|SSBP2_uc011ctq.2_Splice_Site_p.G137_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	167	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGGATGTCCTAAAAAAAGTA	0.428													-	80769592	A	-	80769592	8	5	272	1	0	1	0	1	0	0	1	0	15179	377	13	0		0	SSBP2	5	80769592	Splice_Site	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1739160	80769592	100145668	595	135706											
RASA1	5921	broad.mit.edu	37	chr5	86672789	86672807	+	Frame_Shift_Del	DEL	TTTTTCTTCACGAAAAGCT	TTTTTCTTCACGAAAAGCT	-													ggccagcatcctactgaggaTttttcttcacgaaaagcttg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:86672788_86672806ATTTTTCTTCACGAAAAGCT>A	uc003kiw.3	+	16	2474_2492	c.2275_2293ATTTTTCTTCACGAAAAGCT>A	c.(2275-2295)atttttcttcacgaaaagcttfs	p.I759fs	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Frame_Shift_Del_p.I582fs|RASA1_uc011ctv.2_Frame_Shift_Del_p.I592fs|RASA1_uc011ctw.2_Frame_Shift_Del_p.I593fs|RASA1_uc010jaw.3_Frame_Shift_Del_p.I581fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	759	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor 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)		CCTACTGAGGATTTTTCTTCACGAAAAGCTTGAATCGTT	0.384													-	86672807	TTTTTCTTCACGAAAAGCT	-	86672789	7	5	272	1	0	1	0	1	0	0	0	0	13060	1493	52	0	2354	0	RASA1	5	86672789	Frame_Shift_Del	DEL	TTTTTCTTCACGAAAAGCT	TCGA-HU-A4GQ-01A-11D-A25D-08	5903197	86672789	94242471	596	135707											
POU5F2	134187	broad.mit.edu	37	chr5	93077153	93077153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaccctgccaggggcCgcctgggtgctcaaccaggt	12	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:93077153C>T	uc003kkl.1	-	1	157	c.117G>A	c.(115-117)GCG>GCA	p.A39A	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		TGCCAGGGGCCGCCTGGGTGC	0.682													T	93077153	C	T	93077153	2	4	272	1	0	0	0	0	0	0	0	1	12283	639	23	1		1	POU5F2	5	93077153	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6404364	93077153	87838107	597	135708											
ERAP1	51752	broad.mit.edu	37	chr5	96112148	96112149	+	Frame_Shift_Ins	INS	-	-	A													gccacactctgattttatcaINSaaattcttatccatccaacc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:96112147_96112148C>CA	uc003kmm.3	-	18	3125_3126	c.2778_2779G>TG	c.(2776-2781)tttgatfs	p.F926fs	CAST_uc003kmk.3_Intron|ERAP1_uc003kml.3_Frame_Shift_Ins_p.F926fs|ERAP1_uc010jbm.2_Frame_Shift_Ins_p.F738fs|ERAP1_uc003kmn.3_Frame_Shift_Ins_p.F926fs	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	926					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)		CTGATTTTATCAAAATTCTTAT	0.381													A	96112149	-	A	96112148	7	5	272	1	0	1	1	0	0	0	0	0	5203	127	5	0	84	0	ERAP1	5	96112148	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	3034995	96112148	84803112	598	135709											
CHD1	1105	broad.mit.edu	37	chr5	98193931	98193931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgatggtctttaccattActaaaagaagaatagggtct	8	7	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:98193931A>G	uc003knf.2	-	34	4888	c.4740T>C	c.(4738-4740)AGT>AGC	p.S1580S	CHD1_uc010jbn.2_Silent_p.S306S	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1580					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			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		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)	CTTTACCATTACTAAAAGAAG	0.368													G	98193931	A	G	98193931	2	3	272	1	0	0	0	0	0	0	0	1	3323	388	14	3		3	CHD1	5	98193931	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2081783	98193931	82721329	599	135710											
FER	2241	broad.mit.edu	37	chr5	108290522	108290522	+	Frame_Shift_Del	DEL	A	A	-													atagaagctcaagaactgttAaaaaaacaaggagacttttt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:108290521_108290521TA>T	uc003kop.1	+	11	1805	c.1421_1421TA>T	c.(1420-1422)ttafs	p.L474fs	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Frame_Shift_Del_p.L299fs	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	474	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)		CAAGAACTGTTAAAAAAACAA	0.403													-	108290522	A	-	108290522	7	5	272	1	0	1	0	1	0	0	0	0	5813	359	13	0	1460	0	FER	5	108290522	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	10096591	108290522	72624738	600	135711											
FER	2241	broad.mit.edu	37	chr5	108294935	108294935	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctctccagaacatgtatCgattcgagggcactgggttt	10	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:108294935C>T	uc003kop.1	+	13	1927	c.1543C>T	c.(1543-1545)CGA>TGA	p.R515*	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Nonsense_Mutation_p.R340*	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	515	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		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)		GAACATGTATCGATTCGAGGG	0.333													T	108294935	C	T	108294935	4	4	272	1	0	0	0	0	0	1	0	0	5813	876	31	1	1585	1	FER	5	108294935	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4413	108294935	72620325	601	135712											
SRP19	6728	broad.mit.edu	37	chr5	112227602	112227602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggagcagaaggcacaagAagaattcagaataaagaagg	14	4	1	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:112227602A>G	uc011cvv.1	+	4	596	c.341A>G	c.(340-342)GAA>GGA	p.E114G	SRP19_uc011cvu.1_Missense_Mutation_p.E99G|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		AAGGCACAAGAAGAATTCAGA	0.224													G	112227602	A	G	112227602	3	3	272	1	0	0	0	0	1	0	0	0	15153	261	9	3		3	SRP19	5	112227602	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3932667	112227602	68687658	602	135713											
DCP2	167227	broad.mit.edu	37	chr5	112328440	112328440	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagtaaataaagaagaAgctcctcatgattgtgctgc	10	6	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:112328440A>C	uc003kqh.2	+	4	603	c.405A>C	c.(403-405)GAA>GAC	p.E135D	DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.E41D	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	135	Nudix box.|Nudix hydrolase.				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|protein binding|RNA binding				0		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)		ATAAAGAAGAAGCTCCTCATG	0.353													C	112328440	A	C	112328440	3	2	272	1	0	0	0	0	1	0	0	0	4300	69	3	5	419	5	DCP2	5	112328440	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	100838	112328440	68586820	603	135714											
TSSK1B	83942	broad.mit.edu	37	chr5	112769448	112769448	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagctcactgggcccgcgtCtctggaggctgttggggggg	19	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:112769448C>A	uc003kqm.2	-	1	1281	c.1089G>T	c.(1087-1089)GAG>GAT	p.E363D	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	363					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		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)		GGGCCCGCGTCTCTGGAGGCT	0.592													A	112769448	C	A	112769448	3	1	272	1	0	0	0	0	1	0	0	0	16665	912	32	5	18	5	TSSK1B	5	112769448	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	441008	112769448	68145812	604	135715											
COMMD10	51397	broad.mit.edu	37	chr5	115628184	115628184	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagctggattcccttacaTgatgttttcgaagactgttt	8	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:115628184T>C	uc003krt.1	+	7	630	c.607T>C	c.(607-609)TGA>CGA	p.*203R		NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	203							protein binding			ovary(1)	1		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TTCCCTTACATGATGTTTTCG	0.373													C	115628184	T	C	115628184	4	2	272	1	0	0	0	0	0	0	0	0	3715	1477	51	3	633	3	COMMD10	5	115628184	Nonstop_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2858736	115628184	65287076	605	135716											
DMXL1	1657	broad.mit.edu	37	chr5	118485859	118485859	+	Frame_Shift_Del	DEL	T	T	-													taaagaaagttatgatgagcTttttcagactcaacttctaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:118485859delT	uc003ksd.2	+	18	4518	c.4337delT	c.(4336-4338)CTTfs	p.L1446fs	DMXL1_uc010jcl.1_Frame_Shift_Del_p.L1446fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1446										ovary(2)	2		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)		TATGATGAGCTTTTTCAGACT	0.348													-	118485859	T	-	118485859	7	5	272	1	0	1	0	1	0	0	0	0	4594	1609	56	0	4407	0	DMXL1	5	118485859	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2857675	118485859	62429401	606	135717											
SRFBP1	153443	broad.mit.edu	37	chr5	121297697	121297697	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagaccggttcacgtgcaGgcagcggcggatcatattcc	14	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:121297697G>T	uc003kst.1	+	1	42	c.-30G>T	c.(-32--28)CAGGC>CATGC			NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		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)		TTCACGTGCAGGCAGCGGCGG	0.587													T	121297697	G	T	121297697	1	4	272	1	0	0	0	0	0	0	0	0	15143	1015	35	5		5	SRFBP1	5	121297697	Translation_Start_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2811838	121297697	59617563	607	135718											
CSNK1G3	1456	broad.mit.edu	37	chr5	122911537	122911537	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaagttattcacattataGattttggtttggcaaaggaa	9	4	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:122911537G>T	uc003ktm.2	+	6	1272	c.553G>T	c.(553-555)GAT>TAT	p.D185Y	CSNK1G3_uc003ktl.2_Missense_Mutation_p.D185Y|CSNK1G3_uc003ktn.2_Missense_Mutation_p.D185Y|CSNK1G3_uc003kto.2_Missense_Mutation_p.D185Y|CSNK1G3_uc011cwr.1_Missense_Mutation_p.D110Y|CSNK1G3_uc011cws.1_Missense_Mutation_p.D72Y|CSNK1G3_uc010jda.2_Missense_Mutation_p.D185Y	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	185	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TCACATTATAGATTTTGGTTT	0.363													T	122911537	G	T	122911537	3	4	272	1	0	0	0	0	1	0	0	0	3956	942	33	5	571	5	CSNK1G3	5	122911537	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1613840	122911537	58003723	608	135719											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926144	122926145	+	Frame_Shift_Ins	INS	-	-	T													gttatgtaagaaggctagatINSttttttgaaaaaccagacta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:122926143_122926144A>AT	uc003ktm.3	+	8	1600_1601	c.881_882A>AT	c.(880-882)gatfs	p.D294fs	CSNK1G3_uc003ktl.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003ktn.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003kto.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc011cwr.2_Frame_Shift_Ins_p.D219fs|CSNK1G3_uc011cws.2_Frame_Shift_Ins_p.D182fs|CSNK1G3_uc010jda.3_Frame_Shift_Ins_p.D295fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	294	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.D294A(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGAAGGCTAGATTTTTTTGAAA	0.262													T	122926145	-	T	122926144	7	5	272	1	0	1	1	0	0	0	0	0	3956	1490	52	0	912	0	CSNK1G3	5	122926144	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	14607	122926144	57989116	609	135720											
MEGF10	84466	broad.mit.edu	37	chr5	126758366	126758366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttttccatgcaggatgGcacgtacgggctgaactgtg	14	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:126758366G>A	uc003kuh.3	+	14	1957	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	MEGF10_uc010jdc.1_Missense_Mutation_p.G532D|MEGF10_uc010jdd.1_Missense_Mutation_p.G532D|MEGF10_uc003kui.3_Missense_Mutation_p.G532D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	532	Extracellular (Potential).|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				ovary(4)	4		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)		ATGCAGGATGGCACGTACGGG	0.582													A	126758366	G	A	126758366	3	1	272	1	0	0	0	0	1	0	0	0	9460	1203	42	2	1641	2	MEGF10	5	126758366	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3832222	126758366	54156894	610	135721											
P4HA2	8974	broad.mit.edu	37	chr5	131545995	131545995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagggagagcaggcggcGggtgagctccagggcacggt	19	10	0	2	rs149593706		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:131545995G>A	uc003kwh.2	-	6	1255	c.691C>T	c.(691-693)CGC>TGC	p.R231C	P4HA2_uc003kwg.2_Missense_Mutation_p.R231C|P4HA2_uc003kwi.2_Missense_Mutation_p.R231C|P4HA2_uc003kwk.2_Missense_Mutation_p.R231C|P4HA2_uc003kwl.2_Missense_Mutation_p.R231C|P4HA2_uc003kwj.2_Missense_Mutation_p.R231C	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	231	TPR.					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				0		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)	AGCAGGCGGCGGGTGAGCTCC	0.597													A	131545995	G	A	131545995	3	1	272	1	0	0	0	0	1	0	0	0	11357	1116	39	1	1020	1	P4HA2	5	131545995	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4787629	131545995	49369265	611	135722											
TCF7	6932	broad.mit.edu	37	chr5	133473786	133473787	+	Frame_Shift_Ins	INS	-	-	CT													cccccacggtgtcccccaacINStctctctctacgaacatttc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:133473785_133473786A>ACT	uc003kyt.3	+	3	673_674	c.477_478A>ACT	c.(475-480)caactcfs	p.Q159fs	TCF7_uc003kyv.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyw.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyu.2_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyy.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kza.3_Frame_Shift_Ins_p.Q44fs	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	159					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	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)			GTGTCCCCCAACTCTCTCTCTA	0.594													CT	133473787	-	CT	133473786	7	5	272	1	0	1	1	0	0	0	0	0	15693	565	20	0	492	0	TCF7	5	133473786	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1927791	133473786	47441474	612	135723											
CDKL3	51265	broad.mit.edu	37	chr5	133634344	133634344	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgtaaaagaaaagacactAccagaaaaaaaacctgtttc	5	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:133634344A>G	uc003kzf.3	-	13	1896	c.1777T>C	c.(1777-1779)TAG>CAG	p.*593Q	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_3'UTR	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	593						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGACACTACCAGAAAAAA	0.368													G	133634344	A	G	133634344	4	3	272	1	0	0	0	0	0	0	0	0	3155	404	14	3	5	3	CDKL3	5	133634344	Nonstop_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	160558	133634344	47280916	613	135724											
H2AFY	9555	broad.mit.edu	37	chr5	134670787	134670787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgaagtaactggagatgGccttcagaatcagctgagct	11	9	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:134670787G>A	uc003lam.1	-	9	1208	c.998C>T	c.(997-999)GCC>GTC	p.A333V	uc003laj.1_Intron|H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.A332V|H2AFY_uc003lan.1_Missense_Mutation_p.A330V|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.A161V|H2AFY_uc003las.1_Missense_Mutation_p.A333V|H2AFY_uc003lat.1_Missense_Mutation_p.A332V|H2AFY_uc003lau.1_RNA	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	333	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTGGAGATGGCCTTCAGAAT	0.498													A	134670787	G	A	134670787	3	1	272	1	0	0	0	0	1	0	0	0	6929	1203	42	2	124	2	H2AFY	5	134670787	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1036443	134670787	46244473	614	135725											
BRD8	10902	broad.mit.edu	37	chr5	137496755	137496755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatagttgacaaatccataGgcctaaaaaaaaagaacagg	7	6	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137496755G>T	uc003lcf.1	-	18	2307	c.2252C>A	c.(2251-2253)CCT>CAT	p.P751H	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.P530H|BRD8_uc003lcg.2_Missense_Mutation_p.P824H|BRD8_uc003lci.2_Missense_Mutation_p.P754H|BRD8_uc003lch.2_Missense_Mutation_p.P645H|BRD8_uc011cym.1_Missense_Mutation_p.P735H|BRD8_uc010jer.1_Missense_Mutation_p.P720H|BRD8_uc011cyn.1_Missense_Mutation_p.P710H	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	751	Bromo 1.				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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAATCCATAGGCCTAAAAAA	0.373													T	137496755	G	T	137496755	3	4	272	1	0	0	0	0	1	0	0	0	1506	1000	35	5	1559	5	BRD8	5	137496755	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2825968	137496755	43418505	615	135726											
CDC25C	995	broad.mit.edu	37	chr5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-													ttccttggccagaaaaatacTtttttttaactttatctggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|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	WW domain binding|protein tyrosine phosphatase activity			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)			CAGAAAAATACTTTTTTTTAA	0.383													-	137627690	T	-	137627690	7	5	272	1	0	1	0	1	0	0	0	0	3064	1609	56	0	718	0	CDC25C	5	137627690	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	130935	137627690	43287570	616	135727											
FAM53C	51307	broad.mit.edu	37	chr5	137681158	137681158	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccccagagctgccctggCgacctcgaggtctccgcaac	10	19	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137681158C>T	uc003lcv.2	+	4	1251	c.781C>T	c.(781-783)CGA>TGA	p.R261*	FAM53C_uc003lcw.2_Nonsense_Mutation_p.R261*|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Silent_p.G76G	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	261										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCCCTGGCGACCTCGAGG	0.677													T	137681158	C	T	137681158	4	4	272	1	0	0	0	0	0	1	0	0	5581	760	27	1	791	1	FAM53C	5	137681158	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	53468	137681158	43234102	617	135728											
KDM3B	51780	broad.mit.edu	37	chr5	137756625	137756625	+	Frame_Shift_Del	DEL	C	C	-													tggacacaggcataccctttCccccggtcttctctacatcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137756624_137756624TC>T	uc003lcy.1	+	14	4145	c.3945_3945TC>T	c.(3943-3945)tttfs	p.F1315fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.F971fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.F347fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1315					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						GCATACCCTTTCCCCCGGTCT	0.507													-	137756625	C	-	137756625	7	5	272	1	0	1	0	1	0	0	0	0	8127	855	30	0	4004	0	KDM3B	5	137756625	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	75467	137756625	43158635	618	135729											
EGR1	1958	broad.mit.edu	37	chr5	137803449	137803450	+	Frame_Shift_Del	DEL	CT	CT	-													gtggcctcttcggccacctcCtctctctcttcctacccgtc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137803448_137803449CCT>C	uc003ldb.1	+	1	1580_1581	c.1310_1311CCT>C	c.(1309-1311)tccfs	p.S437fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	437					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)			TCGGccacctcctctctctctt	0.564													-	137803450	CT	-	137803449	7	5	272	1	0	1	0	1	0	0	0	0	4971	668	24	0	1317	0	EGR1	5	137803449	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GQ-01A-11D-A25D-08	46824	137803449	43111811	619	135730											
MATR3	9782	broad.mit.edu	37	chr5	138658363	138658364	+	Frame_Shift_Del	DEL	GA	GA	-													ctgatggttcccagaagactGagagttcaaccgaaggtaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138658362_138658363TGA>T	uc003ldw.3	+	12	2257_2258	c.1854_1855TGA>T	c.(1852-1857)actgagfs	p.T618fs	MATR3_uc003ldt.3_Frame_Shift_Del_p.T280fs|MATR3_uc003ldu.3_Frame_Shift_Del_p.T618fs|MATR3_uc010jfb.3_Frame_Shift_Del_p.T618fs|MATR3_uc003ldx.3_Frame_Shift_Del_p.T618fs|MATR3_uc003ldy.3_Frame_Shift_Del_p.T295fs|MATR3_uc003ldz.3_Frame_Shift_Del_p.T618fs|MATR3_uc011czb.2_Frame_Shift_Del_p.T330fs|MATR3_uc003leb.3_Frame_Shift_Del_p.T280fs|MATR3_uc003lec.3_Frame_Shift_Del_p.T295fs	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	618						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein 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)			CCCAGAAGACTGAGAGTTCAAC	0.416													-	138658364	GA	-	138658363	7	5	272	1	0	1	0	1	0	0	0	0	9337	1291	45	0	1897	0	MATR3	5	138658363	Frame_Shift_Del	DEL	GA	TCGA-HU-A4GQ-01A-11D-A25D-08	854914	138658363	42256897	620	135731											
MATR3	9782	broad.mit.edu	37	chr5	138658374	138658374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagactgagagttcaacCgaaggtaaagaacaagaaga	11	6	1	6			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138658374C>T	uc003ldu.2	+	15	2293	c.1866C>T	c.(1864-1866)ACC>ACT	p.T622T	MATR3_uc010jfb.2_Silent_p.T622T|MATR3_uc003ldt.2_Silent_p.T284T|MATR3_uc003ldw.2_Silent_p.T622T|MATR3_uc003ldx.2_Silent_p.T622T|MATR3_uc010jfc.2_Silent_p.T622T|MATR3_uc003ldy.2_Silent_p.T299T|MATR3_uc011czb.1_Silent_p.T334T|MATR3_uc003ldz.2_Silent_p.T622T|MATR3_uc003lea.2_Silent_p.T622T|MATR3_uc003leb.2_Silent_p.T284T|MATR3_uc003lec.2_Silent_p.T299T	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	622						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAGTTCAACCGAAGGTAAAG	0.408													T	138658374	C	T	138658374	2	4	272	1	0	0	0	0	0	0	0	1	9337	639	23	1		1	MATR3	5	138658374	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	11	138658374	42256886	621	135732											
DNAJC18	202052	broad.mit.edu	37	chr5	138762025	138762025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcaggattgctcaggActgcaaatgcatttcctatt	7	9	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138762025A>G	uc003len.2	-	4	400	c.395T>C	c.(394-396)GTC>GCC	p.V132A	DNAJC18_uc010jff.2_Intron	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	132	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTGCTCAGGACTGCAAATGC	0.458													G	138762025	A	G	138762025	3	3	272	1	0	0	0	0	1	0	0	0	4637	275	10	3	701	3	DNAJC18	5	138762025	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	103651	138762025	42153235	622	135733											
TMEM173	340061	broad.mit.edu	37	chr5	138860445	138860445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccacgttgaaattcccTttttcacacactgcagagat	8	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138860445T>C	uc003lep.2	-	5	701	c.450A>G	c.(448-450)AAA>AAG	p.K150K		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	transmembrane protein 173	150	Extracellular (Potential).			K->R: Abolishes ubiquitination, homodimerization and subsequent production of IFN-beta.	activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			upper_aerodigestive_tract(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAAATTCCCTTTTTCACACA	0.587													C	138860445	T	C	138860445	2	2	272	1	0	0	0	0	0	0	0	1	16086	1606	56	3		3	TMEM173	5	138860445	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	98420	138860445	42054815	623	135734											
SLC4A9	83697	broad.mit.edu	37	chr5	139741710	139741710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagcctttgttcgactgCggaaccctgtggtactgggg	16	9	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:139741710C>T	uc003lfm.2	+	5	777	c.742C>T	c.(742-744)CGG>TGG	p.R248W	SLC4A9_uc003lfj.2_Missense_Mutation_p.R224W|SLC4A9_uc011czg.1_Missense_Mutation_p.R224W|SLC4A9_uc003lfl.2_Missense_Mutation_p.R224W|SLC4A9_uc003lfk.2_Missense_Mutation_p.R224W	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	248	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGACTGCGGAACCCTGT	0.617													T	139741710	C	T	139741710	3	4	272	1	0	0	0	0	1	0	0	0	14660	759	27	1	688	1	SLC4A9	5	139741710	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	881265	139741710	41173550	624	135735											
HARS	3035	broad.mit.edu	37	chr5	140058700	140058700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttattcattgccaaataccGagcaaaaggaacctgatgac	7	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140058700G>A	uc003lgv.2	-	5	491	c.409C>T	c.(409-411)CGG>TGG	p.R137W	HARS_uc003lgu.2_Missense_Mutation_p.R68W|HARS_uc011czm.1_Missense_Mutation_p.R97W|HARS_uc003lgw.2_Missense_Mutation_p.R137W|HARS_uc011czn.1_Missense_Mutation_p.R97W|HARS_uc010jfu.2_Missense_Mutation_p.R137W|HARS_uc011czo.1_Intron|HARS_uc011czp.1_Intron|HARS_uc011czq.1_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	137					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GCCAAATACCGAGCAAAAGGA	0.478													A	140058700	G	A	140058700	3	1	272	1	0	0	0	0	1	0	0	0	6959	1057	37	1	1156	1	HARS	5	140058700	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	316990	140058700	40856560	625	135736											
PCDHA1	56147	broad.mit.edu	37	chr5	140166589	140166589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgacgttaatgataaCgccccactgtttgaccaggc	9	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140166589C>T	uc003lhb.2	+	1	714	c.714C>T	c.(712-714)AAC>AAT	p.N238N	PCDHA1_uc003lha.2_Silent_p.N238N|PCDHA1_uc003lgz.2_Silent_p.N238N	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	238	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGATAACGCCCCACTGT	0.488													T	140166589	C	T	140166589	2	4	272	1	0	0	0	0	0	0	0	1	11519	535	19	1		1	PCDHA1	5	140166589	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	107889	140166589	40748671	626	135737											
PCDHAC2	56134	broad.mit.edu	37	chr5	140176740	140176741	+	Frame_Shift_Del	DEL	GC	GC	-													cggtgccacccaccgagggtGcgcgcgcgccaggaaagccc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140176739_140176740TGC>T	uc003lhd.2	+	0	2296_2297	c.2190_2191TGC>T	c.(2188-2193)ggtgcgfs	p.G730fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Frame_Shift_Del_p.G730fs|PCDHAC2_uc011czy.2_Frame_Shift_Del_p.G730fs	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	738					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)			CCACCGAGGGTGCGCGCGCGCC	0.673													-	140176741	GC	-	140176740	7	5	272	1	0	1	0	1	0	0	0	0	11533	1319	46	0		0	PCDHAC2	5	140176740	Frame_Shift_Del	DEL	GC	TCGA-HU-A4GQ-01A-11D-A25D-08	10151	140176740	40738520	627	135738											
PCDHAC2	56134	broad.mit.edu	37	chr5	140176838	140176838	+	Frame_Shift_Del	DEL	C	C	-													agggtgtgctctggggaggaCccccccaagacggacctcat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140176837_140176837AC>A	uc003lhd.2	+	0	2394	c.2288_2288AC>A	c.(2287-2289)gacfs	p.D763fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Frame_Shift_Del_p.D763fs|PCDHAC2_uc011czy.2_Frame_Shift_Del_p.D763fs	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	800					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)			TCTGGGGAGGACCCCCCCAAG	0.617													-	140176838	C	-	140176838	7	5	272	1	0	1	0	1	0	0	0	0	11533	506	18	0		0	PCDHAC2	5	140176838	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	98	140176838	40738422	628	135739											
PCDHA4	56144	broad.mit.edu	37	chr5	140188218	140188218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgtctgcgtgggacgcGgacgcgcaggagaacgcgct	17	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140188218G>A	uc003lhi.2	+	1	1547	c.1446G>A	c.(1444-1446)GCG>GCA	p.A482A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A482A|PCDHA4_uc011daa.1_Silent_p.A482A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGACGCGGACGCGCAGG	0.657													A	140188218	G	A	140188218	2	1	272	1	0	0	0	0	0	0	0	1	11526	1103	39	1		1	PCDHA4	5	140188218	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	11380	140188218	40727042	629	135740											
PCDHA13	56136	broad.mit.edu	37	chr5	140263395	140263395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggtgcacgcggagagCggcaaggtgtacgcgctgca	18	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140263395C>T	uc003lif.2	+	1	1542	c.1542C>T	c.(1540-1542)AGC>AGT	p.S514S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S514S|PCDHA13_uc003lid.2_Silent_p.S514S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	514	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.692													T	140263395	C	T	140263395	2	4	272	1	0	0	0	0	0	0	0	1	11523	767	27	1		1	PCDHA13	5	140263395	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	75177	140263395	40651865	630	135741											
PCDHAC2	56134	broad.mit.edu	37	chr5	140346986	140346986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcttgagctggtgctgcGtaagggcctagaccgggagc	17	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140346986G>A	uc003lii.2	+	1	875	c.635G>A	c.(634-636)CGT>CAT	p.R212H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R212H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	212	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGTAAGGGCCTA	0.617													A	140346986	G	A	140346986	3	1	272	1	0	0	0	0	1	0	0	0	11533	1145	40	1	637	1	PCDHAC2	5	140346986	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	83591	140346986	40568274	631	135742											
PCDHB2	56133	broad.mit.edu	37	chr5	140475056	140475056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacccaggtccggcacgGccctggtacggattgaagtt	13	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140475056G>A	uc003lil.2	+	1	820	c.682G>A	c.(682-684)GCC>ACC	p.A228T	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	228	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCGGCACGGCCCTGGTACG	0.587													A	140475056	G	A	140475056	3	1	272	1	0	0	0	0	1	0	0	0	11542	1203	42	2	684	2	PCDHB2	5	140475056	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	128070	140475056	40440204	632	135743											
PCDHB6	56130	broad.mit.edu	37	chr5	140530600	140530600	+	Frame_Shift_Del	DEL	C	C	-													gcacaagtccctgagaacaaCcccctcggctctctggttat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140530599_140530599AC>A	uc003lir.3	+	0	761	c.761_761AC>A	c.(760-762)aacfs	p.N254fs		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	254	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)			CCTGAGAACAACCCCCTCGGC	0.512													-	140530600	C	-	140530600	7	5	272	1	0	1	0	1	0	0	0	0	11546	506	18	0	764	0	PCDHB6	5	140530600	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	55544	140530600	40384660	633	135744											
PCDHB6	56130	broad.mit.edu	37	chr5	140531689	140531689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgttcggcgtgtgggcGcacaatggcgaggtgcgcac	18	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140531689G>A	uc003lir.2	+	1	1851	c.1851G>A	c.(1849-1851)GCG>GCA	p.A617A	PCDHB6_uc011dah.1_Silent_p.A481A	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	617	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.672													A	140531689	G	A	140531689	2	1	272	1	0	0	0	0	0	0	0	1	11546	1074	38	1		1	PCDHB6	5	140531689	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1089	140531689	40383571	634	135745											
PCDHB12	56124	broad.mit.edu	37	chr5	140589778	140589778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccccaggctaaaaacCgagcacaacataaccgtgct	9	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140589778C>T	uc003liz.2	+	1	1488	c.1299C>T	c.(1297-1299)ACC>ACT	p.T433T	PCDHB12_uc011dak.1_Silent_p.T96T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	433	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTAAAAACCGAGCACAACA	0.572													T	140589778	C	T	140589778	2	4	272	1	0	0	0	0	0	0	0	1	11537	639	23	1		1	PCDHB12	5	140589778	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	58089	140589778	40325482	635	135746											
PCDHB15	56121	broad.mit.edu	37	chr5	140626740	140626740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctttcgagttccgcgtgGgcgccacagaccgcggcttc	14	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140626740G>T	uc003lje.2	+	1	1594	c.1594G>T	c.(1594-1596)GGC>TGC	p.G532C		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	532	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCGCGTGGGCGCCACAGA	0.667													T	140626740	G	T	140626740	3	4	272	1	0	0	0	0	1	0	0	0	11540	1232	43	5	1596	5	PCDHB15	5	140626740	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	36962	140626740	40288520	636	135747											
PCDHGA4	56111	broad.mit.edu	37	chr5	140737119	140737119	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctcatcagccgggagagTtgtgagaaaagcgagcctct	13	10	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140737119T>C	uc003ljq.1	+	1	2352	c.2352T>C	c.(2350-2352)AGT>AGC	p.S784S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Silent_p.S784S|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	784	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGGAGAGTTGTGAGAAAA	0.488													C	140737119	T	C	140737119	2	2	272	1	0	0	0	0	0	0	0	1	11556	1722	60	3		3	PCDHGA4	5	140737119	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	110379	140737119	40178141	637	135748											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744618	140744618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcaaacgacaatgcgcccCtgttcaccccatccgagtac	7	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140744618C>A	uc003lju.1	+	1	721	c.721C>A	c.(721-723)CTG>ATG	p.L241M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.L241M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	241	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCCCTGTTCACCCC	0.577													A	140744618	C	A	140744618	3	1	272	1	0	0	0	0	1	0	0	0	11557	680	24	5	723	5	PCDHGA5	5	140744618	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7499	140744618	40170642	638	135749											
PCDHGA6	56109	broad.mit.edu	37	chr5	140753786	140753786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaaggctccttcgtaGgcaacatcgtcaaggatctg	12	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140753786G>T	uc003ljy.1	+	1	136	c.136G>T	c.(136-138)GGC>TGC	p.G46C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.G46C	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	46	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTTCGTAGGCAACATCGT	0.622													T	140753786	G	T	140753786	3	4	272	1	0	0	0	0	1	0	0	0	11558	1000	35	5	138	5	PCDHGA6	5	140753786	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9168	140753786	40161474	639	135750											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769313	140769313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcctggggctgcgcaCgggcgaagtgcgcacagcgc	16	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140769313C>T	uc003lkc.1	+	1	1862	c.1862C>T	c.(1861-1863)ACG>ATG	p.T621M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T621M	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	621	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCGCACGGGCGAAGTG	0.692													T	140769313	C	T	140769313	3	4	272	1	0	0	0	0	1	0	0	0	11565	536	19	1	1864	1	PCDHGB4	5	140769313	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	15527	140769313	40145947	640	135751											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769490	140769490	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactgaccgccccgacccctCtgacctccaggctgagctgc	9	20	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140769490C>A	uc003lkc.1	+	1	2039	c.2039C>A	c.(2038-2040)TCT>TAT	p.S680Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.S680Y	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	680	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGACCCCTCTGACCTCCAG	0.617													A	140769490	C	A	140769490	3	1	272	1	0	0	0	0	1	0	0	0	11565	913	32	5	2041	5	PCDHGB4	5	140769490	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	177	140769490	40145770	641	135752											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779420	140779420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcttcgatatggtgccgCgcgctgcagagcccggctac	13	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140779420C>T	uc003lkf.1	+	1	1726	c.1726C>T	c.(1726-1728)CGC>TGC	p.R576C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R576C	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	576	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGTGCCGCGCGCTGCAGA	0.672													T	140779420	C	T	140779420	3	4	272	1	0	0	0	0	1	0	0	0	11566	768	27	1	1728	1	PCDHGB5	5	140779420	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	9930	140779420	40135840	642	135753											
PCDHGB6	56100	broad.mit.edu	37	chr5	140790006	140790006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccccaactacagtgaggGgactttgccttattcttata	7	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140790006G>T	uc003lkj.1	+	1	2237	c.2237G>T	c.(2236-2238)GGG>GTG	p.G746V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.G746V|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	746	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGTGAGGGGACTTTGCCT	0.483													T	140790006	G	T	140790006	3	4	272	1	0	0	0	0	1	0	0	0	11567	1232	43	5	2239	5	PCDHGB6	5	140790006	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10586	140790006	40125254	643	135754											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812120	140812120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggtggacagagactcCggccagaacgcctggctgtc	16	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140812120C>T	uc003lkt.1	+	1	1963	c.1794C>T	c.(1792-1794)TCC>TCT	p.S598S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.S598S	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACTCCGGCCAGAACG	0.711													T	140812120	C	T	140812120	2	4	272	1	0	0	0	0	0	0	0	1	11553	639	23	1		1	PCDHGA12	5	140812120	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	22114	140812120	40103140	644	135755											
PCDH1	5097	broad.mit.edu	37	chr5	141244531	141244533	+	In_Frame_Del	DEL	CTT	CTT	-													gtggtagtctgcaggaaataCttcttcttgctgtcactgcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:141244530_141244532ACTT>A	uc003llp.3	-	2	1481_1483	c.1364_1366AAGT>T	c.(1363-1368)aagtat>aTat	p.455_456KY>I	PCDH1_uc011dbf.2_In_Frame_Del_p.433_434KY>I|PCDH1_uc003llq.3_In_Frame_Del_p.455_456KY>I	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	455	Cadherin 4.				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)		TGCAGGAAATACTTCTTCTTGCT	0.562													-	141244533	CTT	-	141244531	7	5	272	1	0	1	0	1	0	0	0	0	11506	564	20	0	2444	0	PCDH1	5	141244531	In_Frame_Del	DEL	CTT	TCGA-HU-A4GQ-01A-11D-A25D-08	432411	141244531	39670729	645	135756											
PCDH1	5097	broad.mit.edu	37	chr5	141248291	141248291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatcctgcaccttgatgGtgaggtcataggagtcccag	12	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:141248291G>A	uc003llq.2	-	2	863	c.746C>T	c.(745-747)ACC>ATC	p.T249I	PCDH1_uc003llp.2_Missense_Mutation_p.T249I|PCDH1_uc011dbf.1_Missense_Mutation_p.T227I	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	249	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		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)		CACCTTGATGGTGAGGTCATA	0.617													A	141248291	G	A	141248291	3	1	272	1	0	0	0	0	1	0	0	0	11506	1261	44	4	3067	4	PCDH1	5	141248291	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3760	141248291	39666969	646	135757											
RBM27	54439	broad.mit.edu	37	chr5	145664219	145664219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaatttaaagaccgtcGgctacagatatcatggcaca	8	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:145664219G>A	uc003lnz.3	+	20	3189	c.3023G>A	c.(3022-3024)CGG>CAG	p.R1008Q		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1008					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGACCGTCGGCTACAGATA	0.373													A	145664219	G	A	145664219	3	1	272	1	0	0	0	0	1	0	0	0	13127	1116	39	1	3101	1	RBM27	5	145664219	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4415928	145664219	35251041	647	135758											
POU4F3	5459	broad.mit.edu	37	chr5	145719823	145719823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaacggaagcgcaaacGcacgtccatcgcggcgccgg	14	15	0	0	rs113824781		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:145719823G>A	uc003loa.2	+	2	922	c.833G>A	c.(832-834)CGC>CAC	p.R278H		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278	Homeobox.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCGCAAACGCACGTCCATC	0.612													A	145719823	G	A	145719823	3	1	272	1	0	0	0	0	1	0	0	0	12280	1087	38	1	839	1	POU4F3	5	145719823	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	55604	145719823	35195437	648	135759											
DPYSL3	1809	broad.mit.edu	37	chr5	146778699	146778699	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatctggatcccagatgacGaggtcgctgtcagaacccac	11	13	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:146778699G>A	uc003lon.1	-	11	1337	c.1227C>T	c.(1225-1227)CTC>CTT	p.L409L	DPYSL3_uc003loo.2_Silent_p.L523L	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	409					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGATGACGAGGTCGCTGT	0.527													A	146778699	G	A	146778699	2	1	272	1	0	0	0	0	0	0	0	1	4748	1045	37	1		1	DPYSL3	5	146778699	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1058876	146778699	34136561	649	135760											
DPYSL3	1809	broad.mit.edu	37	chr5	146781173	146781173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggggatgtcacaaatgCagccgccttggcccagttct	14	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:146781173C>T	uc003lon.1	-	9	1008	c.898G>A	c.(898-900)GCA>ACA	p.A300T	DPYSL3_uc003loo.2_Missense_Mutation_p.A414T	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	300					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACAAATGCAGCCGCCTTG	0.572													T	146781173	C	T	146781173	3	4	272	1	0	0	0	0	1	0	0	0	4748	710	25	2	838	2	DPYSL3	5	146781173	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2474	146781173	34134087	650	135761											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212959	149212959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggaggaggaagaGgaagaagaaaaagaggagga	19	0	0	6			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:149212959G>A	uc003lrc.2	+	5	1365	c.1323G>A	c.(1321-1323)GAG>GAA	p.E441E	PPARGC1B_uc003lrb.1_Silent_p.E441E|PPARGC1B_uc003lrd.2_Silent_p.E402E|PPARGC1B_uc003lrf.2_Silent_p.E420E|PPARGC1B_uc003lre.1_Silent_p.E420E	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	441	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				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaggaagaggaagaagaaa	0.463													A	149212959	G	A	149212959	2	1	272	1	0	0	0	0	0	0	0	1	12301	991	35	4		4	PPARGC1B	5	149212959	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2431786	149212959	31702301	651	135762											
SLC6A7	6534	broad.mit.edu	37	chr5	149584484	149584484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcctgtccccagccacGctcttggtaactggggaggg	13	13	1	0	rs144487516		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:149584484G>A	uc003lrr.2	+	12	1898	c.1527G>A	c.(1525-1527)ACG>ACA	p.T509T		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	509	Helical; Name=11; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCCCAGCCACGCTCTTGGTAA	0.627													A	149584484	G	A	149584484	2	1	272	1	0	0	0	0	0	0	0	1	14689	1074	38	1		1	SLC6A7	5	149584484	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	371525	149584484	31330776	652	135763											
NDST1	3340	broad.mit.edu	37	chr5	149914560	149914560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgttggccgagcagatgGccttgaacaagaagttcgct	13	10	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:149914560G>A	uc003lsk.3	+	5	1730	c.1228G>A	c.(1228-1230)GCC>ACC	p.A410T	NDST1_uc011dcj.1_Missense_Mutation_p.A410T|NDST1_uc003lsl.2_Missense_Mutation_p.A410T	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	410	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGCAGATGGCCTTGAACAA	0.592													A	149914560	G	A	149914560	3	1	272	1	0	0	0	0	1	0	0	0	10255	1203	42	2	1242	2	NDST1	5	149914560	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	330076	149914560	31000700	653	135764											
G3BP1	10146	broad.mit.edu	37	chr5	151170537	151170537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgccacgctaaatgatGgtgtggtagtccaggtgatg	13	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:151170537G>T	uc003lun.2	+	4	436	c.265G>T	c.(265-267)GGT>TGT	p.G89C	G3BP1_uc010jhy.1_Missense_Mutation_p.G89C|G3BP1_uc003lum.2_Missense_Mutation_p.G89C|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	89	NTF2.				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			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCTAAATGATGGTGTGGTAGT	0.443													T	151170537	G	T	151170537	3	4	272	1	0	0	0	0	1	0	0	0	6141	1348	47	5	275	5	G3BP1	5	151170537	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1255977	151170537	29744723	654	135765											
CYFIP2	26999	broad.mit.edu	37	chr5	156810312	156810312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggatgaaacgtctggaagCcaagtatgccccgctccacc	10	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:156810312C>T	uc003lwq.2	+	30	3290	c.3152C>T	c.(3151-3153)GCC>GTC	p.A1051V	CYFIP2_uc011ddn.1_Missense_Mutation_p.A1025V|CYFIP2_uc011ddo.1_Missense_Mutation_p.A855V|CYFIP2_uc003lwr.2_Missense_Mutation_p.A1051V|CYFIP2_uc003lws.2_Missense_Mutation_p.A1051V|CYFIP2_uc003lwt.2_Missense_Mutation_p.A954V|CYFIP2_uc011ddp.1_Missense_Mutation_p.A785V|CYFIP2_uc003lwv.2_Missense_Mutation_p.A6V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1076					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			CGTCTGGAAGCCAAGTATGCC	0.532													T	156810312	C	T	156810312	3	4	272	1	0	0	0	0	1	0	0	0	4138	739	26	2	3258	2	CYFIP2	5	156810312	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5639775	156810312	24104948	655	135766											
SOX30	11063	broad.mit.edu	37	chr5	157065461	157065461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgcaaatctggcatgggCagtacttgcactacttgaaa	10	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:157065461C>T	uc003lxb.1	-	4	1999	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.A248T	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	553					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			CTGGCATGGGCAGTACTTGCA	0.522													T	157065461	C	T	157065461	3	4	272	1	0	0	0	0	1	0	0	0	14952	710	25	2	612	2	SOX30	5	157065461	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	255149	157065461	23849799	656	135767											
CCNJL	79616	broad.mit.edu	37	chr5	159680492	159680492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaatggccatatgcaTgctaagggatgcagggacgg	15	8	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:159680492T>C	uc003lyb.1	-	7	1453	c.1201A>G	c.(1201-1203)ATG>GTG	p.M401V	CCNJL_uc011dee.1_Missense_Mutation_p.M353V|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	401						nucleus					0	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)			GCCATATGCATGCTAAGGGAT	0.612													C	159680492	T	C	159680492	3	2	272	1	0	0	0	0	1	0	0	0	2929	1464	51	3	110	3	CCNJL	5	159680492	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2615031	159680492	21234768	657	135768											
PTTG1	9232	broad.mit.edu	37	chr5	159855661	159855661	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctggatgttgaattgccAcctgtttgctgtgacataga	10	9	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:159855661A>G	uc003lyj.2	+	6	627	c.582A>G	c.(580-582)CCA>CCG	p.P194P	PTTG1_uc003lyk.2_Silent_p.P194P	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding				0	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)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TTGAATTGCCACCTGTTTGCT	0.348													G	159855661	A	G	159855661	2	3	272	1	0	0	0	0	0	0	0	1	12819	146	6	3		3	PTTG1	5	159855661	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	175169	159855661	21059599	658	135769											
SLIT3	6586	broad.mit.edu	37	chr5	168244359	168244359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgttgaagcccctcaaatGcacaggagccatgcagagtg	11	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:168244359G>A	uc003mab.2	-	8	1159	c.739C>T	c.(739-741)CAT>TAT	p.H247Y	SLIT3_uc010jjg.2_Missense_Mutation_p.H247Y|SLIT3_uc010jji.2_Missense_Mutation_p.H247Y|SLIT3_uc003mac.1_Missense_Mutation_p.H44Y	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	247	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			ovary(3)|skin(1)	4	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)			CCCCTCAAATGCACAGGAGCC	0.597													A	168244359	G	A	168244359	3	1	272	1	0	0	0	0	1	0	0	0	14741	1319	46	2	3948	2	SLIT3	5	168244359	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	8388698	168244359	12670901	659	135770											
STK10	6793	broad.mit.edu	37	chr5	171517367	171517367	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtacagtttcgggtcCtggccagggaaaaccattag	11	8	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:171517367C>A	uc003mbo.1	-	10	1855	c.1555_splice	c.e10-1	p.D519_splice		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10								ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	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)			GTTTCGGGTCCTGGCCAGGGA	0.537													A	171517367	C	A	171517367	5	1	272	1	0	0	0	0	0	0	1	0	15285	695	24	5	1392	5	STK10	5	171517367	Splice_Site	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3273008	171517367	9397893	660	135771											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766472	171766472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggccccggagctgctccGtcctctgccgctcccgctcc	12	20	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:171766472G>A	uc003mbr.2	-	13	1808	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	546					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			ovary(3)|skin(1)	4	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)			GAGCTGCTCCGTCCTCTGCCG	0.667													A	171766472	G	A	171766472	3	1	272	1	0	0	0	0	1	0	0	0	14257	1145	40	1	1102	1	SH3PXD2B	5	171766472	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	249105	171766472	9148788	661	135772											
CDHR2	54825	broad.mit.edu	37	chr5	176022601	176022601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtggtcctgttaggacgGcaggcaggcgcaagtggaca	17	9	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176022601G>A	uc003mem.1	+	32	3927	c.3861G>A	c.(3859-3861)CGG>CGA	p.R1287R	CDHR2_uc003men.1_Silent_p.R1287R	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1287	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGTTAGGACGGCAGGCAGGCG	0.652													A	176022601	G	A	176022601	2	1	272	1	0	0	0	0	0	0	0	1	3119	1190	42	2		2	CDHR2	5	176022601	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4256129	176022601	4892659	662	135773											
GPRIN1	114787	broad.mit.edu	37	chr5	176026777	176026777	+	Frame_Shift_Del	DEL	G	G	-													aggctgtgggtcggggtcctGgggggctggaatccttttga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176026776_176026776TG>T	uc003meo.1	-	1	235	c.60_60CA>A	c.(58-60)ccafs	p.P20fs	GPRIN1_uc021yif.1_Frame_Shift_Del_p.P20fs	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	20						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCGGGGTCCTGGGGGGCTGG	0.637													-	176026777	G	-	176026777	7	5	272	1	0	1	0	1	0	0	0	0	6729	1348	47	0	2971	0	GPRIN1	5	176026777	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4176	176026777	4888483	663	135774											
PFN3	345456	broad.mit.edu	37	chr5	176827262	176827262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccattagcaccaggagcgCgcgcggcgcacggcccacgc	14	18	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176827262C>T	uc003mgl.2	-	1	376	c.316G>A	c.(316-318)GCG>ACG	p.A106T		NM_001029886	NP_001025057	P60673	PROF3_HUMAN	profilin 3	106					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding				0	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)			ACCAGGAGCGCGCGCGGCGCA	0.716													T	176827262	C	T	176827262	3	4	272	1	0	0	0	0	1	0	0	0	11769	768	27	1	101	1	PFN3	5	176827262	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	800485	176827262	4087998	664	135775											
DOK3	79930	broad.mit.edu	37	chr5	176935492	176935492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctctccagccgtgccaCgcctgatgggcctcctgcat	10	18	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176935492C>T	uc003mhk.2	-	3	291	c.286G>A	c.(286-288)GTG>ATG	p.V96M	DOK3_uc003mhh.3_Translation_Start_Site|DOK3_uc003mhi.3_Missense_Mutation_p.V40M|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Missense_Mutation_p.V40M	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	96	PH.					cytoplasm|plasma membrane	insulin receptor binding				0	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)			AGCCGTGCCACGCCTGATGGG	0.697													T	176935492	C	T	176935492	3	4	272	1	0	0	0	0	1	0	0	0	4698	536	19	1	1572	1	DOK3	5	176935492	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	108230	176935492	3979768	665	135776											
N4BP3	23138	broad.mit.edu	37	chr5	177546827	177546827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcggaacgagcctgcCgactatgccaccctctacta	8	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:177546827C>T	uc003mik.1	+	2	490	c.243C>T	c.(241-243)GCC>GCT	p.A81A	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	81						cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|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)			ACGAGCCTGCCGACTATGCCA	0.612													T	177546827	C	T	177546827	2	4	272	1	0	0	0	0	0	0	0	1	10113	639	23	1		1	N4BP3	5	177546827	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	611335	177546827	3368433	666	135777											
COL23A1	91522	broad.mit.edu	37	chr5	177697345	177697345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatcacttacgggcttgCcatccaaacccaggggtccc	9	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:177697345C>T	uc003mje.2	-	6	819	c.461G>A	c.(460-462)GGC>GAC	p.G154D	COL23A1_uc010jkt.2_Missense_Mutation_p.A2T	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	154	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	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)		TACGGGCTTGCCATCCAAACC	0.587													T	177697345	C	T	177697345	3	4	272	1	0	0	0	0	1	0	0	0	3682	739	26	2	1257	2	COL23A1	5	177697345	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	150518	177697345	3217915	667	135778											
ZFP2	80108	broad.mit.edu	37	chr5	178358352	178358352	+	Frame_Shift_Del	DEL	A	A	-													ctggcattctactctaggggAaacctgggaacctaataatt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:178358352delA	uc003mjn.1	+	5	547	c.38delA	c.(37-39)GAAfs	p.E13fs	ZFP2_uc010jky.2_Frame_Shift_Del_p.E13fs|ZFP2_uc010jkx.1_Frame_Shift_Del_p.E13fs	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	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)		ACTCTAGGGGAAACCTGGGAA	0.453													-	178358352	A	-	178358352	7	5	272	1	0	1	0	1	0	0	0	0	17638	246	9	0	40	0	ZFP2	5	178358352	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	661007	178358352	2556908	668	135779											
ZFP2	80108	broad.mit.edu	37	chr5	178358745	178358745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acacttcattgaacgatcctCccttactgtacatcaaagaa	4	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:178358745C>A	uc003mjn.1	+	5	940	c.431C>A	c.(430-432)TCC>TAC	p.S144Y	ZFP2_uc010jky.2_Missense_Mutation_p.S144Y|ZFP2_uc010jkx.1_Missense_Mutation_p.S144Y	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	144	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	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)		GAACGATCCTCCCTTACTGTA	0.403													A	178358745	C	A	178358745	3	1	272	1	0	0	0	0	1	0	0	0	17638	855	30	5	433	5	ZFP2	5	178358745	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	393	178358745	2556515	669	135780											
ZNF454	285676	broad.mit.edu	37	chr5	178392092	178392092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctttcaccagagtacGcaccttatccatcaccaaag	5	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:178392092G>A	uc003mjo.1	+	5	958	c.687G>A	c.(685-687)ACG>ACA	p.T229T	ZNF454_uc010jkz.1_Silent_p.T229T	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	229	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ACCAGAGTACGCACCTTATCC	0.388													A	178392092	G	A	178392092	2	1	272	1	0	0	0	0	0	0	0	1	17920	1074	38	1		1	ZNF454	5	178392092	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	33347	178392092	2523168	670	135781											
SQSTM1	8878	broad.mit.edu	37	chr5	179250884	179250884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagtgccggcgggaccacCgcccaccgtgtgctcaggag	15	14	1	1	rs139372286	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:179250884C>T	uc003mkw.3	+	3	423	c.328C>T	c.(328-330)CGC>TGC	p.R110C	SQSTM1_uc011dgr.1_Missense_Mutation_p.R26C|SQSTM1_uc011dgs.1_Missense_Mutation_p.R26C|SQSTM1_uc003mkv.3_Missense_Mutation_p.R110C|SQSTM1_uc003mkx.2_Missense_Mutation_p.R26C	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	110					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGACCACCGCCCACCGTG	0.617									Paget_Disease_of_Bone				T	179250884	C	T	179250884	3	4	272	1	0	0	0	0	1	0	0	0	15129	652	23	1	338	1	SQSTM1	5	179250884	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	858792	179250884	1664376	671	135782											
MAPK9	5601	broad.mit.edu	37	chr5	179668088	179668088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgggtgacgcagagcttcGtctacagagatccgcttgtc	12	10	1	3	rs116346965	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:179668088G>A	uc003mls.3	-	9	1210	c.939C>T	c.(937-939)GAC>GAT	p.D313D	MAPK9_uc003mlt.3_Silent_p.D313D|MAPK9_uc010jlc.2_Silent_p.D313D|MAPK9_uc003mlv.3_Silent_p.D313D	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	313	Protein kinase.				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|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	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)			GCAGAGCTTCGTCTACAGAGA	0.428													A	179668088	G	A	179668088	2	1	272	1	0	0	0	0	0	0	0	1	9287	1136	40	1		1	MAPK9	5	179668088	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	417204	179668088	1247172	672	135783											
CNOT6	57472	broad.mit.edu	37	chr5	179992874	179992874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgataaatatgcgacccggcAgttatacggctactgtccat	9	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:179992874A>G	uc003mlx.2	+	7	963	c.614A>G	c.(613-615)CAG>CGG	p.Q205R	CNOT6_uc010jld.2_Missense_Mutation_p.Q205R|CNOT6_uc010jle.2_Missense_Mutation_p.Q200R	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	205					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				0	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)		GCGACCCGGCAGTTATACGGC	0.398													G	179992874	A	G	179992874	3	3	272	1	0	0	0	0	1	0	0	0	3622	188	7	3	636	3	CNOT6	5	179992874	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	324786	179992874	922386	673	135784											
BTNL9	153579	broad.mit.edu	37	chr5	180486694	180486694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacgacaccttctcgggCgcgctctgtgcgtacttcag	10	15	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:180486694C>T	uc003mmt.2	+	11	1671	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	480	Cytoplasmic (Potential).|B30.2/SPRY.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-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)			CCTTCTCGGGCGCGCTCTGTG	0.672													T	180486694	C	T	180486694	2	4	272	1	0	0	0	0	0	0	0	1	1568	755	27	1		1	BTNL9	5	180486694	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	493820	180486694	428566	674	135785											
GMDS	2762	broad.mit.edu	37	chr6	1726673	1726673	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttggccggtagtactTgagatccacagtcacgtgaa	11	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:1726673T>A	uc003mtq.2	-	9	1154	c.964A>T	c.(964-966)AAG>TAG	p.K322*		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	322					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	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)		CGGTAGTACTTGAGATCCACA	0.512													A	1726673	T	A	1726673	4	1	272	1	0	0	0	0	0	1	0	0	6486	1821	63	5	166	5	GMDS	6	1726673	Nonsense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08		1726673	169388394	675	135786											
DSP	1832	broad.mit.edu	37	chr6	7585816	7585816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctatgccaaaatccTgacctgccccaaaaccaaat	5	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:7585816T>C	uc003mxp.1	+	24	8600	c.8321T>C	c.(8320-8322)CTG>CCG	p.L2774P	DSP_uc003mxq.1_Missense_Mutation_p.L2175P	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2774	Plectin 17.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCAAAATCCTGACCTGCCCC	0.527													C	7585816	T	C	7585816	3	2	272	1	0	0	0	0	1	0	0	0	4781	1580	55	3	8415	3	DSP	6	7585816	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	5859143	7585816	163529251	676	135787											
MAK	4117	broad.mit.edu	37	chr6	10796328	10796328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgctcaggttctgtggcGgctgaatgggctgcagtggc	18	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:10796328G>A	uc003mzl.2	-	8	1275	c.1046C>T	c.(1045-1047)CCG>CTG	p.P349L	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.P349L|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	349	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GTTCTGTGGCGGCTGAATGGG	0.527													A	10796328	G	A	10796328	3	1	272	1	0	0	0	0	1	0	0	0	9197	1116	39	1	849	1	MAK	6	10796328	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3210512	10796328	160318739	677	135788											
PHACTR1	221692	broad.mit.edu	37	chr6	13230374	13230374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatccttcccaggcagaCggatgaggagcggctggagc	15	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:13230374C>T	uc010jpc.2	+	10	1672	c.1340C>T	c.(1339-1341)ACG>ATG	p.T447M	PHACTR1_uc011dir.1_Missense_Mutation_p.T516M|PHACTR1_uc003nag.1_Missense_Mutation_p.T447M|PHACTR1_uc003nah.1_Missense_Mutation_p.T447M	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	447	RPEL 2.					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCAGGCAGACGGATGAGGAG	0.587													T	13230374	C	T	13230374	3	4	272	1	0	0	0	0	1	0	0	0	11809	536	19	1	1370	1	PHACTR1	6	13230374	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2434046	13230374	157884693	678	135789											
SIRT5	23408	broad.mit.edu	37	chr6	13601128	13601128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggtggctgccaggggCgtgccagtggctgaatttaa	15	11	0	1	rs35937472	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:13601128C>T	uc003nay.2	+	9	1100	c.804C>T	c.(802-804)GGC>GGT	p.G268G	SIRT5_uc003naw.2_Silent_p.G268G|SIRT5_uc003nax.2_Silent_p.G160G|SIRT5_uc011dit.1_Silent_p.G250G	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	268	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CTGCCAGGGGCGTGCCAGTGG	0.572													T	13601128	C	T	13601128	2	4	272	1	0	0	0	0	0	0	0	1	14341	755	27	1		1	SIRT5	6	13601128	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	370754	13601128	157513939	679	135790											
JARID2	3720	broad.mit.edu	37	chr6	15496636	15496636	+	Frame_Shift_Del	DEL	G	G	-													gcaaacaggtgctatccctcGggggggcgtccaagtccact							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:15496635_15496635CG>C	uc003nbj.3	+	6	1423	c.1179_1179CG>C	c.(1177-1179)ctcfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Del_p.L257fs|JARID2_uc011div.2_Frame_Shift_Del_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Del_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					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	p.L393L(2)		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)				TGCTATCCCTCGGGGGGGCGT	0.577													-	15496636	G	-	15496636	7	5	272	1	0	1	0	1	0	0	0	0	7945	1116	39	0	1206	0	JARID2	6	15496636	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1895508	15496636	155618431	680	135791											
JARID2	3720	broad.mit.edu	37	chr6	15496805	15496805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaagaggcacaccaggCggagaagccgcagtcgcccc	14	14	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:15496805C>T	uc003nbj.2	+	7	1593	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	JARID2_uc011diu.1_Missense_Mutation_p.A314V|JARID2_uc011div.1_Missense_Mutation_p.A278V|JARID2_uc011diw.1_Missense_Mutation_p.A412V	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	450					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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCACACCAGGCGGAGAAGCCG	0.687													T	15496805	C	T	15496805	3	4	272	1	0	0	0	0	1	0	0	0	7945	768	27	1	1375	1	JARID2	6	15496805	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	169	15496805	155618262	681	135792											
KIF13A	63971	broad.mit.edu	37	chr6	17796972	17796972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccatttccagcacacCggtggccccatacttcaatg	8	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:17796972C>T	uc003ncg.3	-	23	2975	c.2870G>A	c.(2869-2871)CGG>CAG	p.R957Q	KIF13A_uc003ncf.2_Missense_Mutation_p.R957Q|KIF13A_uc003nch.3_Missense_Mutation_p.R957Q|KIF13A_uc003nci.3_Missense_Mutation_p.R957Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	957					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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCAGCACACCGGTGGCCCCA	0.483													T	17796972	C	T	17796972	3	4	272	1	0	0	0	0	1	0	0	0	8274	652	23	1	2640	1	KIF13A	6	17796972	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2300167	17796972	153318095	682	135793											
E2F3	1871	broad.mit.edu	37	chr6	20481645	20481645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaagtctaaaaacaaCgtccaatggatgtgagtagg	11	5	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:20481645C>T	uc003nda.2	+	3	1041	c.714C>T	c.(712-714)AAC>AAT	p.N238N	E2F3_uc003ncz.2_Silent_p.N232N	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	238	Potential.|DEF box.				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			lung(1)	1	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)			CTAAAAACAACGTCCAATGGA	0.478													T	20481645	C	T	20481645	2	4	272	1	0	0	0	0	0	0	0	1	4868	535	19	1		1	E2F3	6	20481645	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2684673	20481645	150633422	683	135794											
ALDH5A1	7915	broad.mit.edu	37	chr6	24503611	24503611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccccggcaaaggacaggCgggccctggtcctcaagcag	13	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:24503611C>T	uc003neg.2	+	3	587	c.559C>T	c.(559-561)CGG>TGG	p.R187W	ALDH5A1_uc003nef.2_Missense_Mutation_p.R187W	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	187					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	AAAGGACAGGCGGGCCCTGGT	0.557													T	24503611	C	T	24503611	3	4	272	1	0	0	0	0	1	0	0	0	502	759	27	1	569	1	ALDH5A1	6	24503611	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4021966	24503611	146611456	684	135795											
ALDH5A1	7915	broad.mit.edu	37	chr6	24528266	24528266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtttctaaaggtgccacCgttgtgacaggtggaaaacg	13	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:24528266C>T	uc003neg.2	+	8	1243	c.1215C>T	c.(1213-1215)ACC>ACT	p.T405T	ALDH5A1_uc003nef.2_Silent_p.T418T	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	405					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	AAGGTGCCACCGTTGTGACAG	0.423													T	24528266	C	T	24528266	2	4	272	1	0	0	0	0	0	0	0	1	502	639	23	1		1	ALDH5A1	6	24528266	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	24655	24528266	146586801	685	135796											
C6orf62	81688	broad.mit.edu	37	chr6	24706480	24706480	+	Frame_Shift_Del	DEL	T	T	-													acttgaagattgtagctttgTtttttggagtctggaagggg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:24706479_24706479GT>G	uc003nel.3	-	4	1083	c.576_576AC>C	c.(574-576)aacfs	p.N192fs		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	192						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTGTAGCTTTGTTTTTTGGAG	0.408													-	24706480	T	-	24706480	7	5	272	1	0	1	0	1	0	0	0	0	2368	1725	60	0	118	0	C6orf62	6	24706480	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	178214	24706480	146408587	686	135797											
SLC17A1	6568	broad.mit.edu	37	chr6	25799104	25799104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggccagtcacattaatgGctgccatcaggatgaaggtt	11	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:25799104G>A	uc003nfh.3	-	12	1429	c.1313C>T	c.(1312-1314)GCC>GTC	p.A438V	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.A436V|SLC17A1_uc010jqc.1_Missense_Mutation_p.A382V	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	438	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						CACATTAATGGCTGCCATCAG	0.373													A	25799104	G	A	25799104	3	1	272	1	0	0	0	0	1	0	0	0	14416	1203	42	2	94	2	SLC17A1	6	25799104	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1092624	25799104	145315963	687	135798											
OR2B6	26212	broad.mit.edu	37	chr6	27925084	27925084	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttctcagatcgaccttgGctggagtttccactccttgt	10	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:27925084G>A	uc011dkx.1	+	1	66	c.66G>A	c.(64-66)TGG>TGA	p.W22*		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATCGACCTTGGCTGGAGTTTC	0.423													A	27925084	G	A	27925084	4	1	272	1	0	0	0	0	0	1	0	0	10991	1212	42	2	68	2	OR2B6	6	27925084	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2125980	27925084	143189983	688	135799											
NKAPL	222698	broad.mit.edu	37	chr6	28227708	28227708	+	Frame_Shift_Del	DEL	A	A	-													ccagtcgttcaagaaacaagAaaaaaagaaagaataagtcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:28227707_28227707GA>G	uc003nkt.3	+	0	610	c.558_558GA>G	c.(556-558)aagfs	p.K186fs	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	186	Lys-rich.									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						CAAGAAACAAGAAAAAAAGAA	0.373													-	28227708	A	-	28227708	7	5	272	1	0	1	0	1	0	0	0	0	10440	247	9	0	561	0	NKAPL	6	28227708	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	302624	28227708	142887359	689	135800											
NKAPL	222698	broad.mit.edu	37	chr6	28228000	28228000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatagggccagaagcacctaTaatacatacctctcaagatg	7	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:28228000T>C	uc003nkt.2	+	1	903	c.851T>C	c.(850-852)ATA>ACA	p.I284T	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	284										upper_aerodigestive_tract(1)|ovary(1)	2						GAAGCACCTATAATACATACC	0.448													C	28228000	T	C	28228000	3	2	272	1	0	0	0	0	1	0	0	0	10440	1406	49	3	853	3	NKAPL	6	28228000	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	292	28228000	142887067	690	135801											
ZNF311	282890	broad.mit.edu	37	chr6	28962826	28962826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctgagaaacagtcacTggagagagggatttcctact	13	7	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:28962826T>C	uc003nlu.2	-	7	2466	c.1953A>G	c.(1951-1953)CCA>CCG	p.P651P	ZNF311_uc011dlk.1_Silent_p.P559P|ZNF311_uc003nlv.2_Silent_p.P559P	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AAACAGTCACTGGAGAGAGGG	0.343													C	28962826	T	C	28962826	2	2	272	1	0	0	0	0	0	0	0	1	17831	1567	55	3		3	ZNF311	6	28962826	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	734826	28962826	142152241	691	135802											
MOG	4340	broad.mit.edu	37	chr6	29638115	29638115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttgtaattgtgccggTtcttggacccttggttgcct	11	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:29638115T>C	uc003nnf.2	+	6	828	c.650T>C	c.(649-651)GTT>GCT	p.V217A	MOG_uc003nmy.1_Missense_Mutation_p.V217A|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.V147A|MOG_uc003nna.2_Missense_Mutation_p.V101A|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.V217A|MOG_uc003nng.2_Intron|MOG_uc003nnh.2_Intron|MOG_uc003nni.2_Intron|MOG_uc003nnj.2_Intron|MOG_uc003nnk.2_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	217	Helical; (Potential).				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)	1						ATTGTGCCGGTTCTTGGACCC	0.512													C	29638115	T	C	29638115	3	2	272	1	0	0	0	0	1	0	0	0	9693	1725	60	3	808	3	MOG	6	29638115	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	675289	29638115	141476952	692	135803											
TRIM31	11074	broad.mit.edu	37	chr6	30080390	30080390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagcgagttgaacctgaTtgcgttcttccttacggaag	10	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:30080390T>G	uc003npg.1	-	2	303	c.193A>C	c.(193-195)ATC>CTC	p.I65L	TRIM31_uc003npi.3_RNA	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	tripartite motif protein 31	65						mitochondrion	ligase activity|zinc ion binding			lung(1)	1						TTGAACCTGATTGCGTTCTTC	0.478													G	30080390	T	G	30080390	3	3	272	1	0	0	0	0	1	0	0	0	16502	1493	52	5	1116	5	TRIM31	6	30080390	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	442275	30080390	141034677	693	135804											
HLA-E	3133	broad.mit.edu	37	chr6	30458189	30458189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctccgagcaaaagtcaaaTgatgcctctgaggcggagca	11	10	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:30458189T>C	uc003nqg.2	+	3	545	c.507T>C	c.(505-507)AAT>AAC	p.N169N	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.N210N	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	169	Extracellular (Potential).|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			central_nervous_system(4)|ovary(1)	5						AAAAGTCAAATGATGCCTCTG	0.582													C	30458189	T	C	30458189	2	2	272	1	0	0	0	0	0	0	0	1	7210	1461	51	3		3	HLA-E	6	30458189	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	377799	30458189	140656878	694	135805											
MRPS18B	28973	broad.mit.edu	37	chr6	30593484	30593484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccaagaagagagtggCcccccacctgagtcaatgcc	9	15	2	3	rs148815125	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:30593484C>T	uc003nqo.2	+	7	844	c.687C>T	c.(685-687)GGC>GGT	p.G229G	MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Silent_p.G186G|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor	229					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1						AAGAGAGTGGCCCCCCACCTG	0.592													T	30593484	C	T	30593484	2	4	272	1	0	0	0	0	0	0	0	1	9829	726	26	2		2	MRPS18B	6	30593484	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	135295	30593484	140521583	695	135806											
TCF19	6941	broad.mit.edu	37	chr6	31130391	31130391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggttcagtgtgatgGctgtgacgtctggttccatg	16	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31130391G>A	uc003nss.2	+	4	1459	c.935G>A	c.(934-936)GGC>GAC	p.G312D	TCF19_uc003nst.2_Missense_Mutation_p.G312D	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	312	PHD-type.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAGTGTGATGGCTGTGACGTC	0.657													A	31130391	G	A	31130391	3	1	272	1	0	0	0	0	1	0	0	0	15686	1203	42	2	945	2	TCF19	6	31130391	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	536907	31130391	139984676	696	135807											
HLA-C	3107	broad.mit.edu	37	chr6	31323232	31323233	+	Frame_Shift_Del	DEL	CA	CA	-													tggtctggtctccacaagctCagtgtcctgagtttggtcct					rs148667827		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31323231_31323232TCA>T	uc003nth.2	-	3	811_812	c.757_758TGA>A	c.(757-759)gagfs	p.E253fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.E132fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	253	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	MHC class I protein complex|integral to membrane				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						CTCCACAAGCTCAGTGTCCTGA	0.579													-	31323233	CA	-	31323232	7	5	272	1	0	1	0	1	0	0	0	0	7197	835	29	0		0	HLA-C	6	31323232	Frame_Shift_Del	DEL	CA	TCGA-HU-A4GQ-01A-11D-A25D-08	192841	31323232	139791835	697	135808											
HLA-B	3106	broad.mit.edu	37	chr6	31323308	31323308	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtagaaacccagggcccaGcacctcagggtggcctcatg	14	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31323308G>T	uc003nth.2	-	4	735	c.681C>A	c.(679-681)TGC>TGA	p.C227*	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Nonsense_Mutation_p.C106*|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	227	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				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				0						CCAGGGCCCAGCACCTCAGGG	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				T	31323308	G	T	31323308	4	4	272	1	0	0	0	0	0	1	0	0	7196	963	34	5	423	5	HLA-B	6	31323308	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	76	31323308	139791759	698	135809											
C6orf27	80737	broad.mit.edu	37	chr6	31734281	31734281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctaggctgaggggcagCcctgtgcaggcgccgccccg	17	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31734281C>T	uc011dog.1	-	14	2381	c.2143G>A	c.(2143-2145)GCT>ACT	p.A715T	C6orf27_uc003nxd.2_Missense_Mutation_p.A390T	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	715						extracellular region				ovary(3)	3						TGAGGGGCAGCCCTGTGCAGG	0.672													T	31734281	C	T	31734281	3	4	272	1	0	0	0	0	1	0	0	0	2362	739	26	2	547	2	C6orf27	6	31734281	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	410973	31734281	139380786	699	135810											
SLC44A4	80736	broad.mit.edu	37	chr6	31833553	31833553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaatgccaatgacccaGtgtggtaactgcagagggtg	12	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31833553G>T	uc010jti.2	-	15	1562	c.1496C>A	c.(1495-1497)ACT>AAT	p.T499N	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	499	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CAATGACCCAGTGTGGTAACT	0.577													T	31833553	G	T	31833553	3	4	272	1	0	0	0	0	1	0	0	0	14638	1029	36	5	664	5	SLC44A4	6	31833553	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	99272	31833553	139281514	700	135811											
EHMT2	10919	broad.mit.edu	37	chr6	31856834	31856834	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactggggcctgaggagccCacaccattcactcctgacac	9	16	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31856834C>A	uc003nxz.1	-	10	1138	c.1128G>T	c.(1126-1128)GTG>GTT	p.V376V	EHMT2_uc003nxy.1_Silent_p.V167V|EHMT2_uc011don.1_Intron|EHMT2_uc003nya.1_Intron	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	376					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTGAGGAGCCCACACCATTCA	0.617													A	31856834	C	A	31856834	2	1	272	1	0	0	0	0	0	0	0	1	4984	581	21	5		5	EHMT2	6	31856834	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	23281	31856834	139258233	701	135812											
RDBP	7936	broad.mit.edu	37	chr6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-													tcctcttcctcgctcagtccGgggggtatcaccaacatggt					rs146039608		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542													-	31926206	G	-	31926206	7	5	272	1	0	1	0	1	0	0	0	0	13188	1103	39	0	1164	0	RDBP	6	31926206	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	69372	31926206	139188861	702	135813											
C4A	720	broad.mit.edu	37	chr6	31962394	31962394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctctgtggtgcccacGgcagccgccgctgtgtctct	12	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31962394G>A	uc011doy.1	+	21	2763	c.2712G>A	c.(2710-2712)ACG>ACA	p.T904T	C4A_uc011doz.1_Silent_p.T904T	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	904					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						TGGTGCCCACGGCAGCCGCCG	0.662													A	31962394	G	A	31962394	2	1	272	1	0	0	0	0	0	0	0	1	2247	1103	39	1		1	C4A	6	31962394	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	36188	31962394	139152673	703	135814											
CYP21A2	1589	broad.mit.edu	37	chr6	32007917	32007917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtggacctcctgatcGgtggcactgagaccacagca	12	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32007917G>A	uc003nze.1	+	7	992	c.874G>A	c.(874-876)GGT>AGT	p.G292S	CYP21A2_uc003nzf.1_Missense_Mutation_p.G262S	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	291			G -> R (in AH3).|G -> S (in AH3; salt wasting form; less then 1% activity).|G -> C (in AH3).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CCTCCTGATCGGTGGCACTGA	0.607													A	32007917	G	A	32007917	3	1	272	1	0	0	0	0	1	0	0	0	4153	1116	39	1	2421	1	CYP21A2	6	32007917	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	45523	32007917	139107150	704	135815											
TNXB	7148	broad.mit.edu	37	chr6	32010293	32010293	+	Frame_Shift_Del	DEL	C	C	-													tcaggggccgctcgcggttgCcgttgaggaagatggtgctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32010293delC	uc003nzl.2	-	40	12345	c.12143delG	c.(12142-12144)GGCfs	p.G4048fs	TNXB_uc003nzg.1_Frame_Shift_Del_p.G479fs|TNXB_uc003nzh.1_Frame_Shift_Del_p.G517fs	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	4095	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTCGCGGTTGCCGTTGAGGAA	0.667													-	32010293	C	-	32010293	7	5	272	1	0	1	0	1	0	0	0	0	16343	739	26	0	2590	0	TNXB	6	32010293	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2376	32010293	139104774	705	135816											
AGPAT1	10554	broad.mit.edu	37	chr6	32137210	32137210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcactgggggcagcaccCgcacctgacattgtcctggg	15	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32137210C>T	uc003oae.2	-	7	1013	c.695G>A	c.(694-696)CGG>CAG	p.R232Q	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R196Q|AGPAT1_uc003oaf.2_Missense_Mutation_p.R232Q|AGPAT1_uc003oag.2_Missense_Mutation_p.R122Q|AGPAT1_uc003oah.2_Missense_Mutation_p.R232Q|AGPAT1_uc003oai.1_Missense_Mutation_p.R232Q|AGPAT1_uc011dpl.1_Missense_Mutation_p.R120Q	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	232					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GGGCAGCACCCGCACCTGACA	0.617													T	32137210	C	T	32137210	3	4	272	1	0	0	0	0	1	0	0	0	386	652	23	1	160	1	AGPAT1	6	32137210	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	126917	32137210	138977857	706	135817											
NOTCH4	4855	broad.mit.edu	37	chr6	32166736	32166736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctcgcctagtgggggcCggcgtcggtggggagctgac	19	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32166736C>T	uc003obb.2	-	24	4641	c.4502G>A	c.(4501-4503)CGG>CAG	p.R1501Q	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.R164Q|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1501	Cytoplasmic (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TAGTGGGGGCCGGCGTCGGTG	0.602													T	32166736	C	T	32166736	3	4	272	1	0	0	0	0	1	0	0	0	10551	652	23	1	1537	1	NOTCH4	6	32166736	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	29526	32166736	138948331	707	135818											
NOTCH4	4855	broad.mit.edu	37	chr6	32187952	32187952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggtgggccccgaataGccaggctgacacaggcagag	16	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32187952G>A	uc003obb.2	-	7	1408	c.1269C>T	c.(1267-1269)GGC>GGT	p.G423G	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.G423G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	423	EGF-like 10.|Extracellular (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GCCCCGAATAGCCAGGCTGAC	0.622													A	32187952	G	A	32187952	2	1	272	1	0	0	0	0	0	0	0	1	10551	958	34	2		2	NOTCH4	6	32187952	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	21216	32187952	138927115	708	135819											
NOTCH4	4855	broad.mit.edu	37	chr6	32188295	32188296	+	Frame_Shift_Ins	INS	-	-	C													gttctcctcacagcttgtgcINScgccccagccactcacacac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32188294_32188295G>GC	uc003obb.3	-	5	1185_1186	c.1046_1047C>GC	c.(1045-1047)ggcfs	p.G349fs	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Frame_Shift_Ins_p.G349fs	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	349	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|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						CACAGCTTGTGCCGCCCCAGCC	0.614													C	32188296	-	C	32188295	7	5	272	1	0	1	1	0	0	0	0	0	10551	739	26	0	5065	0	NOTCH4	6	32188295	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	343	32188295	138926772	709	135820											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33043844	33043844	+	Frame_Shift_Del	DEL	C	C	-													ggttctgcaggtttctgcggCcccccggacagtggctctga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:33043844delC	uc003ocu.1	+	1	85	c.26delC	c.(25-27)GCCfs	p.A9fs	HLA-DPA1_uc003ocs.1_5'Flank|HLA-DPA1_uc010juk.2_5'Flank|HLA-DPA1_uc003oct.1_Intron|HLA-DPB1_uc011dqn.1_RNA|HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Frame_Shift_Del_p.A8fs	NM_002121	NP_002112	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP	9					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				ovary(1)	1						GTTTCTGCGGCCCCCCGGACA	0.552													-	33043844	C	-	33043844	7	5	272	1	0	1	0	1	0	0	0	0	7203	739	26	0	28	0	HLA-DPB1	6	33043844	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	855549	33043844	138071223	710	135821											
RGL2	5863	broad.mit.edu	37	chr6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C													gcggatgaggtcagcgctgcINScccccccaacacccttccct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	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						GGTCAGCGCTGCCCCCCCCAAC	0.653													C	33263966	-	C	33263965	7	5	272	1	0	1	1	0	0	0	0	0	13277	739	26	0	1777	0	RGL2	6	33263965	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	220121	33263965	137851102	711	135822											
ITPR3	3710	broad.mit.edu	37	chr6	33638469	33638469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgattccaacctcaacgcGtcccgagatgacaagaagaa	8	11	1	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:33638469G>A	uc011drk.1	+	20	2682	c.2463G>A	c.(2461-2463)GCG>GCA	p.A821A		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	821	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						ACCTCAACGCGTCCCGAGATG	0.587													A	33638469	G	A	33638469	2	1	272	1	0	0	0	0	0	0	0	1	7922	1132	40	1		1	ITPR3	6	33638469	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	374504	33638469	137476598	712	135823											
ANKS1A	23294	broad.mit.edu	37	chr6	34957009	34957009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctgcagagggaacgTccaccacctccagcaaagcc	8	16	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:34957009T>C	uc003ojx.3	+	9	1360	c.1218T>C	c.(1216-1218)CGT>CGC	p.R406R	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	406						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						AGAGGGAACGTCCACCACCTC	0.413													C	34957009	T	C	34957009	2	2	272	1	0	0	0	0	0	0	0	1	688	1654	58	3		3	ANKS1A	6	34957009	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1318540	34957009	136158058	713	135824											
TULP1	7287	broad.mit.edu	37	chr6	35480431	35480431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacctgtttggggcgccgCggggcctccgggctcaggct	16	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:35480431C>T	uc003okv.3	-	2	96	c.84G>A	c.(82-84)CCG>CCA	p.P28P	TULP1_uc003okw.3_Silent_p.P28P	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	28					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			ovary(2)|central_nervous_system(1)	3						TGGGGCGCCGCGGGGCCTCCG	0.502													T	35480431	C	T	35480431	2	4	272	1	0	0	0	0	0	0	0	1	16770	755	27	1		1	TULP1	6	35480431	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	523422	35480431	135634636	714	135825											
SLC26A8	116369	broad.mit.edu	37	chr6	35919044	35919044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggcaaacagcacggcgtCgtgaacgctgaggaacagct	13	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:35919044C>T	uc003olm.2	-	19	2479	c.2368G>A	c.(2368-2370)GAC>AAC	p.D790N	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.D372N|SLC26A8_uc003oln.2_Missense_Mutation_p.D790N|SLC26A8_uc003oll.2_Missense_Mutation_p.D685N	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	790	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				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			ovary(2)	2						AGCACGGCGTCGTGAACGCTG	0.488													T	35919044	C	T	35919044	3	4	272	1	0	0	0	0	1	0	0	0	14523	884	31	1	552	1	SLC26A8	6	35919044	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	438613	35919044	135196023	715	135826											
TBC1D22B	55633	broad.mit.edu	37	chr6	37252164	37252164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaccctgcagcggaagcGggaggaatattttggcttca	14	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:37252164G>A	uc003onn.2	+	6	871	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	242	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CAGCGGAAGCGGGAGGAATAT	0.488													A	37252164	G	A	37252164	3	1	272	1	0	0	0	0	1	0	0	0	15609	1116	39	1	747	1	TBC1D22B	6	37252164	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1333120	37252164	133862903	716	135827											
MDGA1	266727	broad.mit.edu	37	chr6	37623589	37623589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggagttgacagtacagcGcaggaacaccgtcttctcct	11	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:37623589G>A	uc003onu.1	-	4	1645	c.466C>T	c.(466-468)CGC>TGC	p.R156C		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	156	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						ACAGTACAGCGCAGGAACACC	0.592													A	37623589	G	A	37623589	3	1	272	1	0	0	0	0	1	0	0	0	9406	1087	38	1	2457	1	MDGA1	6	37623589	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	371425	37623589	133491478	717	135828											
DAAM2	23500	broad.mit.edu	37	chr6	39846031	39846031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccaggcagagaagttcCggaaaggtgaggggctctgc	17	8	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:39846031C>T	uc003oow.2	+	12	1510	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	DAAM2_uc010jxc.2_Missense_Mutation_p.R452W|DAAM2_uc003oox.2_Missense_Mutation_p.R452W	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	452	Potential.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R452Q(1)		ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGAGAAGTTCCGGAAAGGTGA	0.547													T	39846031	C	T	39846031	3	4	272	1	0	0	0	0	1	0	0	0	4216	643	23	1	1396	1	DAAM2	6	39846031	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2222442	39846031	131269036	718	135829											
LRFN2	57497	broad.mit.edu	37	chr6	40399677	40399678	+	Frame_Shift_Ins	INS	-	-	G													tgtctgagaggcgggacttgINSgggggtgcagtgcggctggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:40399676_40399677T>TG	uc003oph.1	-	1	1641_1642	c.1176_1177A>CA	c.(1174-1179)cccaagfs	p.P392fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	392						cell junction|integral to membrane|postsynaptic membrane		p.K393fs*39(2)|p.P392P(2)		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)					AGGCGGGACTTGGGGGGTGCAG	0.668													G	40399678	-	G	40399677	7	5	272	1	0	1	1	0	0	0	0	0	8938	1335	47	0	1201	0	LRFN2	6	40399677	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	553646	40399677	130715390	719	135830											
GUCA1B	2979	broad.mit.edu	37	chr6	42162429	42162429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgaccttgaagaagcGcttaaactcatgcataaaga	9	8	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42162429G>A	uc003orz.2	-	1	266	c.130C>T	c.(130-132)CGC>TGC	p.R44C		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	44					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(2)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTGAAGAAGCGCTTAAACTCA	0.547													A	42162429	G	A	42162429	3	1	272	1	0	0	0	0	1	0	0	0	6889	1087	38	1	488	1	GUCA1B	6	42162429	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1762752	42162429	128952638	720	135831											
TRERF1	55809	broad.mit.edu	37	chr6	42196140	42196140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcatccaagagaagatcGgtgtccacaacttcagcctc	8	12	2	3	rs138437729		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42196140G>A	uc003osd.2	-	18	4109	c.3546C>T	c.(3544-3546)ACC>ACT	p.T1182T	TRERF1_uc011duq.1_Silent_p.T1099T|TRERF1_uc003osb.2_Silent_p.T950T|TRERF1_uc003osc.2_Silent_p.T938T|TRERF1_uc003ose.2_Silent_p.T1202T	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1182	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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAGAAGATCGGTGTCCACAA	0.512													A	42196140	G	A	42196140	2	1	272	1	0	0	0	0	0	0	0	1	16472	1103	39	1		1	TRERF1	6	42196140	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	33711	42196140	128918927	721	135832											
UBR2	23304	broad.mit.edu	37	chr6	42643810	42643810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggtgggcttggtgcttgCatttcctgcgttgcagtgtc	14	9	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42643810C>T	uc011dur.1	+	39	4268	c.4268C>T	c.(4267-4269)GCA>GTA	p.A1423V	UBR2_uc011dus.1_Missense_Mutation_p.A1068V|UBR2_uc003osh.2_Intron|UBR2_uc011dut.1_Missense_Mutation_p.A11V	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1423					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	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)			TTGGTGCTTGCATTTCCTGCG	0.443													T	42643810	C	T	42643810	3	4	272	1	0	0	0	0	1	0	0	0	16899	710	25	2	4568	2	UBR2	6	42643810	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	447670	42643810	128471257	722	135833											
KIAA0240	23506	broad.mit.edu	37	chr6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-													ctgcagaaggaaacatttctAaaaaaacagaatgccttggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42832626_42832626TA>T	uc003osn.1	+	12	2833	c.2682_2682TA>T	c.(2680-2682)tctfs	p.S894fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	894										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GAAACATTTCTAAAAAAACAG	0.493													-	42832627	A	-	42832627	7	5	272	1	0	1	0	1	0	0	0	0	8164	363	13	0	2725	0	KIAA0240	6	42832627	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	188817	42832627	128282440	723	135834											
CUL7	9820	broad.mit.edu	37	chr6	43013345	43013345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcagcgctttatgcGgatctggatgatgggccaga	15	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43013345G>A	uc003otq.2	-	14	3145	c.2842C>T	c.(2842-2844)CGC>TGC	p.R948C	CUL7_uc010jyg.2_Missense_Mutation_p.R227C|CUL7_uc011dvb.1_Missense_Mutation_p.R1032C|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	948	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			CGCTTTATGCGGATCTGGATG	0.622													A	43013345	G	A	43013345	3	1	272	1	0	0	0	0	1	0	0	0	4060	1116	39	1	2306	1	CUL7	6	43013345	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	180718	43013345	128101722	724	135835											
KLC4	89953	broad.mit.edu	37	chr6	43039923	43039923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaaacctgggagctcTgtataggcgccagggaaagc	14	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43039923T>C	uc003otv.1	+	12	1495	c.1418T>C	c.(1417-1419)CTG>CCG	p.L473P	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.L396P|KLC4_uc003otw.1_Missense_Mutation_p.L491P|KLC4_uc003otx.1_Missense_Mutation_p.L473P|KLC4_uc003oty.1_Missense_Mutation_p.L473P|KLC4_uc003otz.1_Missense_Mutation_p.L473P	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	473	TPR 7.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			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)			CTGGGAGCTCTGTATAGGCGC	0.542													C	43039923	T	C	43039923	3	2	272	1	0	0	0	0	1	0	0	0	8336	1580	55	3	1587	3	KLC4	6	43039923	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	26578	43039923	128075144	725	135836											
ZNF318	24149	broad.mit.edu	37	chr6	43323104	43323104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtcaactgaggaacaGcggtcagctgagaagcggtg	16	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43323104G>A	uc003oux.2	-	4	2046	c.1968C>T	c.(1966-1968)CGC>CGT	p.R656R	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	656					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAGGAACAGCGGTCAGCTG	0.542													A	43323104	G	A	43323104	2	1	272	1	0	0	0	0	0	0	0	1	17833	958	34	2		2	ZNF318	6	43323104	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	283181	43323104	127791963	726	135837											
YIPF3	25844	broad.mit.edu	37	chr6	43483391	43483391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggatgtcgatgttggCgtacaagctgaaggccctgg	15	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43483391C>T	uc003ovl.1	-	3	494	c.337G>A	c.(337-339)GCC>ACC	p.A113T	YIPF3_uc011dvk.1_Missense_Mutation_p.A78T|YIPF3_uc010jyr.1_Missense_Mutation_p.A119T|YIPF3_uc010jys.1_5'UTR|YIPF3_uc003ovm.1_5'UTR|YIPF3_uc010jyt.1_Intron|POLR1C_uc003ovn.2_5'Flank|POLR1C_uc003ovo.1_5'Flank	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	natural killer cell-specific antigen KLIP1	113					cell differentiation	integral to membrane|plasma membrane|transport vesicle					0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCGATGTTGGCGTACAAGCTG	0.517													T	43483391	C	T	43483391	3	4	272	1	0	0	0	0	1	0	0	0	17476	768	27	1	743	1	YIPF3	6	43483391	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	160287	43483391	127631676	727	135838											
TCTE1	202500	broad.mit.edu	37	chr6	44248064	44248064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccacatctgacaggcGcaagtcaaattccaggaggg	13	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:44248064G>A	uc003oxi.2	-	5	1516	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	454										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGACAGGCGCAAGTCAAAT	0.572													A	44248064	G	A	44248064	3	1	272	1	0	0	0	0	1	0	0	0	15714	1087	38	1	149	1	TCTE1	6	44248064	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	764673	44248064	126867003	728	135839											
PKHD1	5314	broad.mit.edu	37	chr6	51882334	51882334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcagttgctctgtcgccAtggcaactgtcaaatcacac	8	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:51882334A>G	uc003pah.1	-	34	5750	c.5474T>C	c.(5473-5475)ATG>ACG	p.M1825T	PKHD1_uc003pai.2_Missense_Mutation_p.M1825T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1825	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTCTGTCGCCATGGCAACTGT	0.527													G	51882334	A	G	51882334	3	3	272	1	0	0	0	0	1	0	0	0	11971	217	8	3	6925	3	PKHD1	6	51882334	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	7634270	51882334	119232733	729	135840											
EFHC1	114327	broad.mit.edu	37	chr6	52318984	52318984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactatcttatggatgataCggtggaaattcgagaggtcc	11	6	1	2	rs143655397		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:52318984C>T	uc003pap.3	+	5	1030	c.815C>T	c.(814-816)ACG>ATG	p.T272M	EFHC1_uc011dwv.1_Missense_Mutation_p.T181M|EFHC1_uc011dww.1_Missense_Mutation_p.T253M	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	272	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					ATGGATGATACGGTGGAAATT	0.453													T	52318984	C	T	52318984	3	4	272	1	0	0	0	0	1	0	0	0	4946	536	19	1	843	1	EFHC1	6	52318984	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	436650	52318984	118796083	730	135841											
EFHC1	114327	broad.mit.edu	37	chr6	52357070	52357070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctctctctgcagttAatcaggatgtgctctcatgg	9	10	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:52357070A>G	uc003pap.3	+	11	2069	c.1854A>G	c.(1852-1854)TTA>TTG	p.L618L	EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Silent_p.L599L	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	618						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					CTCTGCAGTTAATCAGGATGT	0.433													G	52357070	A	G	52357070	2	3	272	1	0	0	0	0	0	0	0	1	4946	359	13	3		3	EFHC1	6	52357070	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	38086	52357070	118757997	731	135842											
DST	667	broad.mit.edu	37	chr6	56328464	56328464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctcgtgatgatggccGggatcttcggcctcggggtc	16	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:56328464G>A	uc003pdf.2	-	94	16457	c.16429C>T	c.(16429-16431)CGG>TGG	p.R5477W	DST_uc003pcz.3_Missense_Mutation_p.R5299W|DST_uc011dxj.1_Missense_Mutation_p.R5328W|DST_uc011dxk.1_Missense_Mutation_p.R5339W|DST_uc003pcy.3_Missense_Mutation_p.R4973W|DST_uc003pcv.3_Missense_Mutation_p.R95W|DST_uc003pcw.3_Missense_Mutation_p.R56W|DST_uc003pcx.3_Missense_Mutation_p.R56W	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7409					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGATGGCCGGGATCTTCGG	0.592													A	56328464	G	A	56328464	3	1	272	1	0	0	0	0	1	0	0	0	4783	1115	39	1	614	1	DST	6	56328464	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3971394	56328464	114786603	732	135843											
IMPG1	3617	broad.mit.edu	37	chr6	76660338	76660338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagctcttgttgaacaggtCgttggagaaggccatgttag	14	6	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:76660338C>T	uc003pik.1	-	13	1895	c.1765G>A	c.(1765-1767)GAC>AAC	p.D589N		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	589	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGAACAGGTCGTTGGAGAAG	0.493													T	76660338	C	T	76660338	3	4	272	1	0	0	0	0	1	0	0	0	7728	884	31	1	648	1	IMPG1	6	76660338	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	20331874	76660338	94454729	733	135844											
ELOVL4	6785	broad.mit.edu	37	chr6	80629257	80629257	+	Frame_Shift_Del	DEL	A	A	-													aaggaattcaactgggctccAaaaaatgctttagaaaaaca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:80629256_80629256CA>C	uc003pja.4	-	4	869	c.550_550TG>G	c.(550-552)ggafs	p.G184fs	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	184					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)	AACTGGGCTCCAAAAAATGCT	0.328													-	80629257	A	-	80629257	7	5	272	1	0	1	0	1	0	0	0	0	5076	127	5	0	403	0	ELOVL4	6	80629257	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3968919	80629257	90485810	734	135845											
ELOVL4	6785	broad.mit.edu	37	chr6	80656996	80656996	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccgagtccaggagccccaTcgcggcgatgagcgggcgct	15	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:80656996T>A	uc003pja.3	-	1	320	c.1A>T	c.(1-3)ATG>TTG	p.M1L	ELOVL4_uc011dyt.1_RNA	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	1					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			ovary(1)|skin(1)	2		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)	AGGAGCCCCATCGCGGCGATG	0.697													A	80656996	T	A	80656996	3	1	272	1	0	0	0	0	1	0	0	0	5076	1435	50	5	967	5	ELOVL4	6	80656996	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	27739	80656996	90458071	735	135846											
IBTK	25998	broad.mit.edu	37	chr6	82930339	82930339	+	Frame_Shift_Del	DEL	T	T	-													atccattgcaagaatgcaaaTtttttgacccccattttctt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:82930338_82930338AT>A	uc003pjl.1	-	8	1744	c.1217_1217AT>T	c.(1216-1218)attfs	p.I406fs	IBTK_uc011dyv.1_Frame_Shift_Del_p.I406fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.I406fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.I100fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.I406fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	406					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)		AAGAATGCAAATTTTTTGACC	0.383													-	82930339	T	-	82930339	7	5	272	1	0	1	0	1	0	0	0	0	7476	1493	52	0	2929	0	IBTK	6	82930339	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2273343	82930339	88184728	736	135847											
DOPEY1	23033	broad.mit.edu	37	chr6	83849800	83849800	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagccattatccattactgTttgttggatccaactacaca	5	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:83849800T>A	uc003pjs.1	+	22	5462	c.5202T>A	c.(5200-5202)TGT>TGA	p.C1734*	DOPEY1_uc011dyy.1_Nonsense_Mutation_p.C1725*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.C1725*|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1734					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		TCCATTACTGTTTGTTGGATC	0.358													A	83849800	T	A	83849800	4	1	272	1	0	0	0	0	0	1	0	0	4707	1731	60	5	5280	5	DOPEY1	6	83849800	Nonsense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	919461	83849800	87265267	737	135848											
RIPPLY2	134701	broad.mit.edu	37	chr6	84563821	84563821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttcctctccagatgccCgatggccctggaatgaccgc	9	16	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:84563821C>T	uc003pke.2	+	3	331	c.180C>T	c.(178-180)CCC>CCT	p.P60P		NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	ripply2 protein	60					somite rostral/caudal axis specification	nucleus					0						TCCAGATGCCCGATGGCCCTG	0.577													T	84563821	C	T	84563821	2	4	272	1	0	0	0	0	0	0	0	1	13385	639	23	1		1	RIPPLY2	6	84563821	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	714021	84563821	86551246	738	135849											
SPACA1	81833	broad.mit.edu	37	chr6	88767395	88767395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatccaagtgtgttgtaCgggtagaagaatgccgtgga	15	5	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:88767395C>T	uc003pmn.2	+	3	448	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	111	Extracellular (Potential).					integral to membrane					0		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													T	88767395	C	T	88767395	3	4	272	1	0	0	0	0	1	0	0	0	14972	527	19	1	341	1	SPACA1	6	88767395	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4203574	88767395	82347672	739	135850											
MDN1	23195	broad.mit.edu	37	chr6	90359802	90359803	+	Missense_Mutation	DNP	AC	AC	GT													gatagccaaacaaatctgatActggcgtttactgggcttgg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:90359802_90359803AC>GT	uc003pnn.1	-	97	16262_16263	c.16146_16147GT>AC	c.(16144-16149)CAGTAT>CAACAT	p.Y5383H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5383					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		CAAATCTGATACTGGCGTTTAC	0.411													GT	90359803	AC	GT	90359802	3	3	272	1	0	0	0	0	1	0	0	0	9415	391	14	3	667	3	MDN1	6	90359802	Missense_Mutation	DNP	AC	TCGA-HU-A4GQ-01A-11D-A25D-08	1592407	90359802	80755265	740	135851											
BACH2	60468	broad.mit.edu	37	chr6	90660298	90660298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtctccaaggggggtgaGcgagggcagactttgattgg	18	7	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:90660298G>A	uc011eab.1	-	7	2336	c.1527C>T	c.(1525-1527)CGC>CGT	p.R509R	BACH2_uc003pnw.2_Silent_p.R509R|BACH2_uc010kch.2_Silent_p.R509R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	509						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		AGGGGGGTGAGCGAGGGCAGA	0.652													A	90660298	G	A	90660298	2	1	272	1	0	0	0	0	0	0	0	1	1284	958	34	2		2	BACH2	6	90660298	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	300496	90660298	80454769	741	135852											
KIAA0776	23376	broad.mit.edu	37	chr6	96972270	96972270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaggtcgagtaaacaTtgttgatctacaacaggtag	9	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:96972270T>C	uc003por.2	+	3	284	c.236T>C	c.(235-237)ATT>ACT	p.I79T	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	79	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CGAGTAAACATTGTTGATCTA	0.284													C	96972270	T	C	96972270	3	2	272	1	0	0	0	0	1	0	0	0	8193	1493	52	3	246	3	KIAA0776	6	96972270	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	6311972	96972270	74142797	742	135853											
C6orf167	253714	broad.mit.edu	37	chr6	97597752	97597752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctatattcctgccaagGccccatttctgctctgaatc	7	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:97597752G>A	uc003ppb.2	-	24	3893	c.3627C>T	c.(3625-3627)GGC>GGT	p.G1209G	C6orf167_uc011eaf.1_Silent_p.G1169G	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1209					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		TCCTGCCAAGGCCCCATTTCT	0.348													A	97597752	G	A	97597752	2	1	272	1	0	0	0	0	0	0	0	1	2342	1190	42	2		2	C6orf167	6	97597752	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	625482	97597752	73517315	743	135854											
ASCC3	10973	broad.mit.edu	37	chr6	101037562	101037562	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcaggcttcaagcggtccTtgaacattttaactgtttga	8	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:101037562T>A	uc003pqk.2	-	36	5827	c.5498A>T	c.(5497-5499)AAG>ATG	p.K1833M		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1833	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		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)		CAAGCGGTCCTTGAACATTTT	0.343													A	101037562	T	A	101037562	3	1	272	1	0	0	0	0	1	0	0	0	1033	1609	56	5	1138	5	ASCC3	6	101037562	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3439810	101037562	70077505	744	135855											
GRIK2	2898	broad.mit.edu	37	chr6	102337740	102337740	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctttgtcatagccaggTaacatgctcacttttgtgat	8	9	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:102337740T>C	uc003pqp.3	+	11	1997	c.1748_splice	c.e11+2	p.R583_splice	GRIK2_uc003pqn.2_Nonstop_Mutation_p.*584Q|GRIK2_uc003pqo.3_Splice_Site_p.R583_splice|GRIK2_uc010kcw.2_Splice_Site_p.R583_splice	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	CATAGCCAGGTAACATGCTCA	0.378													C	102337740	T	C	102337740	5	2	272	1	0	0	0	0	0	0	1	0	6774	1652	57	3	1792	3	GRIK2	6	102337740	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1300178	102337740	68777327	745	135856											
SCML4	256380	broad.mit.edu	37	chr6	108070973	108070973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggctctggggtactccgCggaggtgagagggctaaggg	20	8	1	1	rs148891280		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:108070973C>T	uc010kdf.2	-	3	452	c.201G>A	c.(199-201)CCG>CCA	p.P67P	SCML4_uc003prz.3_Silent_p.P9P|SCML4_uc011eam.1_Silent_p.P67P|SCML4_uc003psa.3_Silent_p.P38P	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		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)		GGGTACTCCGCGGAGGTGAGA	0.577													T	108070973	C	T	108070973	2	4	272	1	0	0	0	0	0	0	0	1	13911	755	27	1		1	SCML4	6	108070973	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5733233	108070973	63044094	746	135857											
AKD1	221264	broad.mit.edu	37	chr6	109850222	109850222	+	Frame_Shift_Del	DEL	T	T	-													aaaactacttacctccctccTttttttatctctctctaata							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:109850221_109850221CT>C	uc003ptn.2	-	28	3703	c.3626_3626AG>G	c.(3625-3627)aggfs	p.R1209fs	AKD1_uc011eat.1_Frame_Shift_Del_p.R288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1209					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTCCCTCCTTTTTTTATC	0.378													-	109850222	T	-	109850222	7	5	272	1	0	1	0	1	0	0	0	0	460	1608	56	0	2162	0	AKD1	6	109850222	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1779249	109850222	61264845	747	135858											
REV3L	5980	broad.mit.edu	37	chr6	111694477	111694477	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatgacttaaaaactcaTttttttctatagcttgtcct	4	8	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:111694477T>G	uc003puy.3	-	13	5404	c.5081A>C	c.(5080-5082)AAT>ACT	p.N1694T	REV3L_uc003pux.3_Missense_Mutation_p.N1616T|REV3L_uc003puz.3_Missense_Mutation_p.N1616T	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1694					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		TAAAAACTCATTTTTTTCTAT	0.318								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					G	111694477	T	G	111694477	3	3	272	1	0	0	0	0	1	0	0	0	13240	1493	52	5	4391	5	REV3L	6	111694477	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1844255	111694477	59420590	748	135859											
GOPC	57120	broad.mit.edu	37	chr6	117923401	117923401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccacggagcaggaggcGccccctgggccccctccggc	14	21	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:117923401G>A	uc003pxu.2	-	1	281	c.51C>T	c.(49-51)GGC>GGT	p.G17G	GOPC_uc003pxv.2_Silent_p.G17G	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	17					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		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)		AGCAGGAGGCGCCCCCTGGGC	0.697			O	ROS1	glioblastoma						OREG0017633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	117923401	G	A	117923401	2	1	272	1	0	0	0	0	0	0	0	1	6573	1074	38	1		1	GOPC	6	117923401	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6228924	117923401	53191666	749	135860											
SMPDL3A	10924	broad.mit.edu	37	chr6	123116911	123116911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcttcatctaaaggtGcaaatgcctccaaccctggc	9	12	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:123116911G>A	uc003pzg.2	+	2	723	c.202G>A	c.(202-204)GCA>ACA	p.A68T	SMPDL3A_uc003pzh.2_Intron	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	68					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)		ATCTAAAGGTGCAAATGCCTC	0.398													A	123116911	G	A	123116911	3	1	272	1	0	0	0	0	1	0	0	0	14808	1319	46	2	208	2	SMPDL3A	6	123116911	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5193510	123116911	47998156	750	135861											
RNF146	81847	broad.mit.edu	37	chr6	127608556	127608558	+	In_Frame_Del	DEL	AGA	AGA	-													aggagtcataggggagaaggAgaagaagatcatgaatcacc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:127608555_127608557GAGA>G	uc021zes.1	+	2	933_935	c.797_799GAGA>G	c.(796-801)ggagaa>gGaa	p.E268del	RNF146_uc021zet.1_In_Frame_Del_p.E267del|RNF146_uc021zeu.1_In_Frame_Del_p.E267del|RNF146_uc021zev.1_In_Frame_Del_p.E267del|RNF146_uc021zew.1_In_Frame_Del_p.E268del|RNF146_uc003qat.3_In_Frame_Del_p.E267del|RNF146_uc021zex.1_In_Frame_Del_p.E267del|RNF146_uc003qaw.3_In_Frame_Del_p.E267del|RNF146_uc003qau.3_In_Frame_Del_p.E267del|RNF146_uc003qav.3_In_Frame_Del_p.E268del|RNF146_uc021zey.1_In_Frame_Del_p.E267del	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	268					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	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)		AGGGGAGAAGGAGAAGAAGATCA	0.468													-	127608558	AGA	-	127608556	7	5	272	1	0	1	0	1	0	0	0	0	13448	291	11	0	797	0	RNF146	6	127608556	In_Frame_Del	DEL	AGA	TCGA-HU-A4GQ-01A-11D-A25D-08	4491645	127608556	43506511	751	135862											
C6orf174	387104	broad.mit.edu	37	chr6	127796902	127796902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctctccttcttgcccgCgtcgctctcggcgtcgctgt	11	17	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:127796902C>T	uc003qbd.2	-	6	3134	c.2269G>A	c.(2269-2271)GCG>ACG	p.A757T	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	757						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TTCTTGCCCGCGTCGCTCTCG	0.697													T	127796902	C	T	127796902	3	4	272	1	0	0	0	0	1	0	0	0	2345	768	27	1	582	1	C6orf174	6	127796902	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	188346	127796902	43318165	752	135863											
C6orf174	387104	broad.mit.edu	37	chr6	127837665	127837665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgctgctttctgctgCtgccctccgggtgcagacga	12	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:127837665C>T	uc003qbd.2	-	2	960	c.95G>A	c.(94-96)AGC>AAC	p.S32N		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	32						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTTTCTGCTGCTGCCCTCCGG	0.677													T	127837665	C	T	127837665	3	4	272	1	0	0	0	0	1	0	0	0	2345	797	28	2	2772	2	C6orf174	6	127837665	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	40763	127837665	43277402	753	135864											
L3MBTL3	84456	broad.mit.edu	37	chr6	130454617	130454617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccgggaagaacccaccGtccagcaggcacagcgtcgg	14	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:130454617G>A	uc003qbt.2	+	21	2157	c.1987G>A	c.(1987-1989)GTC>ATC	p.V663I	L3MBTL3_uc003qbu.2_Missense_Mutation_p.V638I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	663					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGAACCCACCGTCCAGCAGGC	0.527													A	130454617	G	A	130454617	3	1	272	1	0	0	0	0	1	0	0	0	8593	1145	40	1	2061	1	L3MBTL3	6	130454617	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2616952	130454617	40660450	754	135865											
TAAR6	319100	broad.mit.edu	37	chr6	132891738	132891738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcagcatggtcaggaCggtggagagctgctggtatt	15	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:132891738C>T	uc011eck.1	+	1	278	c.278C>T	c.(277-279)ACG>ATG	p.T93M		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	93	Extracellular (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ATGGTCAGGACGGTGGAGAGC	0.498													T	132891738	C	T	132891738	3	4	272	1	0	0	0	0	1	0	0	0	15489	536	19	1	280	1	TAAR6	6	132891738	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2437121	132891738	38223329	755	135866											
TNFAIP3	7128	broad.mit.edu	37	chr6	138201287	138201287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcctggggagggaatgCggcacccttggaagcaccat	15	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:138201287C>T	uc003qhr.2	+	8	2052	c.1986C>T	c.(1984-1986)TGC>TGT	p.C662C	TNFAIP3_uc003qhs.2_Silent_p.C662C	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	A20-type 5.|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?(22)|p.C662fs*36(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								T	138201287	C	T	138201287	2	4	272	1	0	0	0	0	0	0	0	1	16271	776	27	1		1	TNFAIP3	6	138201287	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5309549	138201287	32913780	756	135867											
ECT2L	345930	broad.mit.edu	37	chr6	139159645	139159645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccctggaagtttttaacTgaacaggtttactatttgcc	9	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:139159645T>C	uc003qif.1	+	3	439	c.336T>C	c.(334-336)ACT>ACC	p.T112T	ECT2L_uc011edq.1_Silent_p.T43T	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	112	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						AGTTTTTAACTGAACAGGTTT	0.448													C	139159645	T	C	139159645	2	2	272	1	0	0	0	0	0	0	0	1	4902	1567	55	3		3	ECT2L	6	139159645	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	958358	139159645	31955422	757	135868											
TXLNB	167838	broad.mit.edu	37	chr6	139583894	139583894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcttcctcacgtgccCgctgaagcgcctcttcctgc	7	18	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:139583894C>T	uc011eds.1	-	5	869	c.704G>A	c.(703-705)CGG>CAG	p.R235Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	235	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCACGTGCCCGCTGAAGCGC	0.478													T	139583894	C	T	139583894	3	4	272	1	0	0	0	0	1	0	0	0	16785	652	23	1	1374	1	TXLNB	6	139583894	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	424249	139583894	31531173	758	135869											
TXLNB	167838	broad.mit.edu	37	chr6	139609852	139609852	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttaatgatgtcttccagcTgtcgattcagctcttcagag	9	9	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:139609852T>C	uc011eds.1	-	2	350	c.185A>G	c.(184-186)CAG>CGG	p.Q62R		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	62						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GTCTTCCAGCTGTCGATTCAG	0.547													C	139609852	T	C	139609852	3	2	272	1	0	0	0	0	1	0	0	0	16785	1580	55	3	1905	3	TXLNB	6	139609852	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	25958	139609852	31505215	759	135870											
GPR126	57211	broad.mit.edu	37	chr6	142725056	142725056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctgttaccagggacaaaTgcaatttcaaattttagcat	6	9	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:142725056T>C	uc010khc.2	+	14	2484	c.2073T>C	c.(2071-2073)AAT>AAC	p.N691N	GPR126_uc010khd.2_Silent_p.N663N|GPR126_uc010khe.2_Silent_p.N691N|GPR126_uc010khf.2_Silent_p.N663N	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	691	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGGACAAATGCAATTTCAA	0.363													C	142725056	T	C	142725056	2	2	272	1	0	0	0	0	0	0	0	1	6640	1461	51	3		3	GPR126	6	142725056	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3115204	142725056	28390011	760	135871											
PHACTR2	9749	broad.mit.edu	37	chr6	144081696	144081697	+	Frame_Shift_Ins	INS	-	-	A													tgatgaagtgcctcccattaINSaaaaaaataccaaggctcct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:144081695_144081696T>TA	uc010khi.3	+	4	811_812	c.612_613T>TA	c.(610-615)attaaafs	p.I204fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.I193fs|PHACTR2_uc010khh.3_Intron|PHACTR2_uc003qjr.4_Intron	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	193							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)		TGCCTCCCATTAAAAAAAATAC	0.569													A	144081697	-	A	144081696	7	5	272	1	0	1	1	0	0	0	0	0	11810	363	13	0	648	0	PHACTR2	6	144081696	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1356640	144081696	27033371	761	135872											
FBXO30	84085	broad.mit.edu	37	chr6	146121270	146121270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttttaaaactgagcgtAgtgaacgtccttctttagtg	10	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:146121270A>G	uc003qla.2	-	3	2409	c.2210T>C	c.(2209-2211)CTA>CCA	p.L737P	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	737							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTGAGCGTAGTGAACGTCC	0.353													G	146121270	A	G	146121270	3	3	272	1	0	0	0	0	1	0	0	0	5740	420	15	3	31	3	FBXO30	6	146121270	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2039574	146121270	24993797	762	135873											
SHPRH	257218	broad.mit.edu	37	chr6	146266724	146266724	+	Frame_Shift_Del	DEL	T	T	-													atggaaaggatggacactccTttttttccattcatttcttt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:146266723_146266723CT>C	uc003qlf.3	-	7	1771	c.1372_1372AG>G	c.(1372-1374)ggafs	p.G458fs	SHPRH_uc003qle.3_Frame_Shift_Del_p.G458fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.G14fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.G347fs	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	458	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.G458V(1)		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)		ATGGACACTCCTTTTTTTCCA	0.328													-	146266724	T	-	146266724	7	5	272	1	0	1	0	1	0	0	0	0	14291	1606	56	0	3816	0	SHPRH	6	146266724	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	145454	146266724	24848343	763	135874											
SUMO4	387082	broad.mit.edu	37	chr6	149721679	149721679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcctattgtgaaccacGgggattgtcagtgaagcaga	13	7	1	3	rs57327874	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:149721679G>A	uc003qml.2	+	1	185	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	TAB2_uc011eec.1_Intron|TAB2_uc003qmj.2_Intron|TAB2_uc003qmk.3_Intron	NM_001002255	NP_001002255	Q6EEV6	SUMO4_HUMAN	SMT3 suppressor of mif two 3 homolog 4	51	Ubiquitin-like.										0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		TGTGAACCACGGGGATTGTCA	0.433													A	149721679	G	A	149721679	3	1	272	1	0	0	0	0	1	0	0	0	15387	1116	39	1	154	1	SUMO4	6	149721679	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3454955	149721679	21393388	764	135875											
AKAP12	9590	broad.mit.edu	37	chr6	151672372	151672372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaagaagaaccccccaCggttactgaacctctgccag	9	14	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151672372C>T	uc011eep.1	+	4	3086	c.2846C>T	c.(2845-2847)ACG>ATG	p.T949M	AKAP12_uc003qoe.2_Missense_Mutation_p.T949M|AKAP12_uc003qof.2_Missense_Mutation_p.T851M|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T844M	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	949					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCCCCCACGGTTACTGAA	0.527													T	151672372	C	T	151672372	3	4	272	1	0	0	0	0	1	0	0	0	448	536	19	1	2885	1	AKAP12	6	151672372	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1950693	151672372	19442695	765	135876											
AKAP12	9590	broad.mit.edu	37	chr6	151672999	151673000	+	Frame_Shift_Ins	INS	-	-	C													atggtgatggaacaggctatINScccccctgactcggtggaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151672999_151673000insC	uc011eep.1	+	4	3713_3714	c.3473_3474insC	c.(3472-3474)ATCfs	p.I1158fs	AKAP12_uc003qoe.2_Frame_Shift_Ins_p.I1158fs|AKAP12_uc003qof.2_Frame_Shift_Ins_p.I1060fs|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Frame_Shift_Ins_p.I1053fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1158					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACAGGCTATCCCCCCTGACT	0.53													C	151673000	-	C	151672999	7	5	272	1	0	1	1	0	0	0	0	0	448	1435	50	0	3512	0	AKAP12	6	151672999	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	627	151672999	19442068	766	135877	702	2									
AKAP12	9590	broad.mit.edu	37	chr6	151673000	151673001	+	Frame_Shift_Ins	INS	-	-	C													tggtgatggaacaggctatcINSccccctgactcggtggaaac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151672999_151673000T>TC	uc011eep.2	+	3	3713_3714	c.3473_3474T>TC	c.(3472-3474)atcfs	p.I1158fs	AKAP12_uc003qoe.3_Frame_Shift_Ins_p.I1158fs|AKAP12_uc003qof.3_Frame_Shift_Ins_p.I1060fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Ins_p.I1053fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1158					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.P1160fs*18(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)		GAACAGGCTATCCCCCCTGACT	0.53													C	151673001	-	C	151673000	7	5	272	1	0	1	1	0	0	0	0	0	448	845	30	0	3513	0	AKAP12	6	151673000	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	151673000	19442067	767	135878	702	2									
RMND1	55005	broad.mit.edu	37	chr6	151766691	151766691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcatcttggcaacgagCagcatttaatggagacagca	9	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151766691C>T	uc003qoi.2	-	2	436	c.256G>A	c.(256-258)GCT>ACT	p.A86T	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.A86T|RMND1_uc011eer.1_Missense_Mutation_p.A86T	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	86											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGGCAACGAGCAGCATTTAAT	0.423													T	151766691	C	T	151766691	3	4	272	1	0	0	0	0	1	0	0	0	13396	710	25	2	1137	2	RMND1	6	151766691	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	93691	151766691	19348376	768	135879											
SYNE1	23345	broad.mit.edu	37	chr6	152473123	152473123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaagatggaggtgacacGcttttgcaggttgtcccatc	13	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:152473123G>A	uc010kiw.2	-	134	24885	c.24283C>T	c.(24283-24285)CGT>TGT	p.R8095C	SYNE1_uc010kiv.2_Missense_Mutation_p.R2619C|SYNE1_uc003qos.3_Missense_Mutation_p.R2619C|SYNE1_uc003qot.3_Missense_Mutation_p.R8024C|SYNE1_uc003qou.3_Missense_Mutation_p.R8095C|SYNE1_uc003qop.3_Missense_Mutation_p.R257C|SYNE1_uc011eez.1_Missense_Mutation_p.R297C|SYNE1_uc003qoq.3_Missense_Mutation_p.R297C|SYNE1_uc003qor.3_Missense_Mutation_p.R995C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8095	Spectrin 29.|Cytoplasmic (Potential).		R -> H (in EDMD4).		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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGTGACACGCTTTTGCAGG	0.527										HNSCC(10;0.0054)			A	152473123	G	A	152473123	3	1	272	1	0	0	0	0	1	0	0	0	15442	1087	38	1	2235	1	SYNE1	6	152473123	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	706432	152473123	18641944	769	135880											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	DEL	T	T	-													cataatcaagaactccagccTttttttccacaaaagaaatt					rs35128811		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:152539539_152539539CT>C	uc021zhb.1	-	119	22268	c.22045_splice	c.e119-1	p.A7349_splice	SYNE1_uc003qos.4_Splice_Site_p.A1873_splice|SYNE1_uc003qot.4_Splice_Site_p.A7278_splice|SYNE1_uc003qou.4_Splice_Site_p.A7349_splice|SYNE1_uc003qor.4_Splice_Site_p.A249_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GAACTCCAGCCTTTTTTTCCA	0.343										HNSCC(10;0.0054)			-	152539540	T	-	152539540	8	5	272	1	0	1	0	1	0	0	1	0	15442	1623	56	0	4527	0	SYNE1	6	152539540	Splice_Site	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	66417	152539540	18575527	770	135881											
SYNE1	23345	broad.mit.edu	37	chr6	152841622	152841622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaggaacttgagtgccGtgccaatgttagccacagca	11	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:152841622G>A	uc010kiw.2	-	6	883	c.281C>T	c.(280-282)ACG>ATG	p.T94M	SYNE1_uc003qot.3_Missense_Mutation_p.T94M|SYNE1_uc003qou.3_Missense_Mutation_p.T94M|SYNE1_uc010kjb.1_Missense_Mutation_p.T94M|SYNE1_uc003qpa.1_Missense_Mutation_p.T94M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	94	Actin-binding.|Cytoplasmic (Potential).|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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGAGTGCCGTGCCAATGTT	0.443										HNSCC(10;0.0054)			A	152841622	G	A	152841622	3	1	272	1	0	0	0	0	1	0	0	0	15442	1145	40	1	26774	1	SYNE1	6	152841622	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	302082	152841622	18273445	771	135882											
TIAM2	26230	broad.mit.edu	37	chr6	155465747	155465747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtttcacaggatgcacGctgctgttttatgagaccta	9	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:155465747G>A	uc003qqb.2	+	8	2911	c.1638G>A	c.(1636-1638)ACG>ACA	p.T546T	TIAM2_uc003qqe.2_Silent_p.T546T|TIAM2_uc010kjj.2_Silent_p.T79T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	546	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGGATGCACGCTGCTGTTTT	0.483													A	155465747	G	A	155465747	2	1	272	1	0	0	0	0	0	0	0	1	15888	1074	38	1		1	TIAM2	6	155465747	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2624125	155465747	15649320	772	135883											
IGF2R	3482	broad.mit.edu	37	chr6	160485488	160485489	+	Frame_Shift_Ins	INS	-	-	G													tgttaaaaatgaacttcacgINSgggggggacacttgccataa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:160485487_160485488C>CG	uc003qta.3	+	27	4089_4090	c.3941_3942C>CG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					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)		ATGAACTTCACGGGGGGGGACA	0.505													G	160485489	-	G	160485488	7	5	272	1	0	1	1	0	0	0	0	0	7576	1103	39	0	4052	0	IGF2R	6	160485488	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	5019741	160485488	10629579	773	135884											
IGF2R	3482	broad.mit.edu	37	chr6	160494501	160494501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggcctgcgagcaagcGgtgagttttcagatgggcac	15	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:160494501G>A	uc003qta.2	+	34	5095	c.4947G>A	c.(4945-4947)GCG>GCA	p.A1649A		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1649	11.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGAGCAAGCGGTGAGTTTTC	0.607													A	160494501	G	A	160494501	2	1	272	1	0	0	0	0	0	0	0	1	7576	1130	39	1		1	IGF2R	6	160494501	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9013	160494501	10620566	774	135885											
LPA	4018	broad.mit.edu	37	chr6	160968822	160968823	+	Splice_Site	INS	-	-	T													caaatcaaagtggcttacatINSttttttccagacctgcccat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:160968821_160968822A>AT	uc003qtl.3	-	33	5424	c.5304_splice	c.e33+1	p.N1768_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4276	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)	AGTGGCTTACATTTTTTTCCAG	0.47													T	160968823	-	T	160968822	8	5	272	1	0	1	1	0	0	0	1	0	8903	1507	52	0	851	0	LPA	6	160968822	Splice_Site	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	474321	160968822	10146245	775	135886											
RPS6KA2	6196	broad.mit.edu	37	chr6	166883342	166883342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttacgttccagtctatgGtcacaaagaagggatggcgc	11	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:166883342G>A	uc003qvb.1	-	11	1178	c.959C>T	c.(958-960)ACC>ATC	p.T320I	RPS6KA2_uc011ego.1_Missense_Mutation_p.T231I|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T231I|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T328I|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T345I	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	320	AGC-kinase C-terminal.				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			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		CCAGTCTATGGTCACAAAGAA	0.517													A	166883342	G	A	166883342	3	1	272	1	0	0	0	0	1	0	0	0	13651	1261	44	4	1286	4	RPS6KA2	6	166883342	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5914520	166883342	4231725	776	135887											
THBS2	7058	broad.mit.edu	37	chr6	169629757	169629757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgcccagaatttggCagatgggggcagttatcctg	12	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:169629757C>T	uc003qwt.2	-	15	2417	c.2169G>A	c.(2167-2169)CTG>CTA	p.L723L		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	723	TSP type-3 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		CAGAATTTGGCAGATGGGGGC	0.478													T	169629757	C	T	169629757	2	4	272	1	0	0	0	0	0	0	0	1	15851	697	25	2		2	THBS2	6	169629757	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2746415	169629757	1485310	777	135888											
HEATR2	54919	broad.mit.edu	37	chr7	796463	796463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacgtttgtcagccctgaGgtgtttctgaagctgatctt	13	8	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:796463G>T	uc010krz.1	+	6	1322	c.1302G>T	c.(1300-1302)GAG>GAT	p.E434D	HEATR2_uc003siz.2_Missense_Mutation_p.E302D	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	434							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCAGCCCTGAGGTGTTTCTGA	0.607													T	796463	G	T	796463	3	4	272	1	0	0	0	0	1	0	0	0	7028	991	35	5	1324	5	HEATR2	7	796463	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08		796463	158342200	778	135889											
SUN1	23353	broad.mit.edu	37	chr7	899919	899919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagctgcagatcctgcGgaacgtcacccaccacgttt	9	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:899919G>A	uc011jvp.1	+	15	1758	c.1679G>A	c.(1678-1680)CGG>CAG	p.R560Q	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.R477Q|SUN1_uc011jvq.1_Missense_Mutation_p.R457Q|SUN1_uc003sjg.2_Missense_Mutation_p.R465Q|SUN1_uc011jvr.1_Missense_Mutation_p.R358Q|SUN1_uc003sji.2_Missense_Mutation_p.R398Q|SUN1_uc003sjk.2_Missense_Mutation_p.R199Q	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	587	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						CAGATCCTGCGGAACGTCACC	0.597													A	899919	G	A	899919	3	1	272	1	0	0	0	0	1	0	0	0	15388	1116	39	1	1916	1	SUN1	7	899919	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	103456	899919	158238744	779	135890											
C7orf50	84310	broad.mit.edu	37	chr7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-													gcgctgggccctccccggcaGggggggatcagagccctcct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:1037310_1037310AG>A	uc003sju.2	-	4	606	c.536_536CT>T	c.(535-537)ctgfs	p.L179fs	C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	179							protein binding	p.L179fs*>17(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTCCCCGGCAGGGGGGGATC	0.721													-	1037311	G	-	1037311	7	5	272	1	0	1	0	1	0	0	0	0	2399	991	35	0	53	0	C7orf50	7	1037311	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	137392	1037311	158101352	780	135891											
GPER	2852	broad.mit.edu	37	chr7	1131765	1131765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtcctgtgcaccttcatgtCgctcttcctgcaggtcaaca	8	15	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:1131765C>T	uc010ksd.1	+	2	790	c.401C>T	c.(400-402)TCG>TTG	p.S134L	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.S134L|GPER_uc003ska.1_Missense_Mutation_p.S134L|GPER_uc003skb.2_Missense_Mutation_p.S134L	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	134	Helical; Name=3; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ACCTTCATGTCGCTCTTCCTG	0.612													T	1131765	C	T	1131765	3	4	272	1	0	0	0	0	1	0	0	0	6607	893	31	1	403	1	GPER	7	1131765	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	94454	1131765	158006898	781	135892											
INTS1	26173	broad.mit.edu	37	chr7	1538480	1538480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcaggtcctgggccggCcgggtcagctgcggggccga	18	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:1538480C>T	uc003skn.2	-	9	1247	c.1146G>A	c.(1144-1146)CGG>CGA	p.R382R	INTS1_uc003skq.2_Silent_p.R382R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	382					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTGGGCCGGCCGGGTCAGCT	0.657													T	1538480	C	T	1538480	2	4	272	1	0	0	0	0	0	0	0	1	7775	726	26	2		2	INTS1	7	1538480	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	406715	1538480	157600183	782	135893											
AMZ1	155185	broad.mit.edu	37	chr7	2752035	2752035	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggggagccgtcagtgtgGgaggacaccccgcctgccag	18	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:2752035G>A	uc003smr.1	+	7	1381	c.1020G>A	c.(1018-1020)TGG>TGA	p.W340*	AMZ1_uc003sms.1_Missense_Mutation_p.G284R|AMZ1_uc011jwa.1_Nonsense_Mutation_p.W89*	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	340							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGTCAGTGTGGGAGGACACCC	0.667													A	2752035	G	A	2752035	4	1	272	1	0	0	0	0	0	1	0	0	596	1241	43	4	1042	4	AMZ1	7	2752035	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1213555	2752035	156386628	783	135894											
CARD11	84433	broad.mit.edu	37	chr7	2977652	2977654	+	In_Frame_Del	DEL	CTT	CTT	-													cacttgagctccaggtcctcCttctcctccaggtactgtga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:2977651_2977653CCTT>C	uc003smv.3	-	7	1365_1367	c.1031_1033AAGG>G	c.(1030-1035)aaggag>aGag	p.344_345KE>R		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	344					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	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)		TCCAGGTCCTCCTTCTCCTCCAG	0.547			Mis		DLBCL								-	2977654	CTT	-	2977652	7	5	272	1	0	1	0	1	0	0	0	0	2645	680	24	0	2504	0	CARD11	7	2977652	In_Frame_Del	DEL	CTT	TCGA-HU-A4GQ-01A-11D-A25D-08	225617	2977652	156161011	784	135895											
SDK1	221935	broad.mit.edu	37	chr7	4153777	4153777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccaagtcgtcagtgacCggctggagagagaattcacc	13	11	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4153777C>T	uc003smx.2	+	25	3833	c.3694C>T	c.(3694-3696)CGG>TGG	p.R1232W	SDK1_uc010kso.2_Missense_Mutation_p.R508W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1232	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CGTCAGTGACCGGCTGGAGAG	0.602													T	4153777	C	T	4153777	3	4	272	1	0	0	0	0	1	0	0	0	13968	643	23	1	3792	1	SDK1	7	4153777	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1176125	4153777	154984886	785	135896											
KIAA0415	9907	broad.mit.edu	37	chr7	4830330	4830330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcggcgagtacctgtcGgtgacctacgatcggaggtg	15	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4830330G>A	uc003sne.2	+	16	2048	c.1965G>A	c.(1963-1965)TCG>TCA	p.S655S	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.S132S	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	655					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		AGTACCTGTCGGTGACCTACG	0.657													A	4830330	G	A	4830330	2	1	272	1	0	0	0	0	0	0	0	1	8175	1103	39	1		1	KIAA0415	7	4830330	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	676553	4830330	154308333	786	135897											
PAPOLB	56903	broad.mit.edu	37	chr7	4899860	4899860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgttttcacagcctgCagacaagtcaaagctgctgt	9	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4899860C>T	uc003snk.2	-	1	1766	c.1582G>A	c.(1582-1584)GCA>ACA	p.A528T	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	527					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TCACAGCCTGCAGACAAGTCA	0.478													T	4899860	C	T	4899860	3	4	272	1	0	0	0	0	1	0	0	0	11430	710	25	2	335	2	PAPOLB	7	4899860	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	69530	4899860	154238803	787	135898											
MMD2	221938	broad.mit.edu	37	chr7	4947141	4947141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagatggcgtgggcaaaGgggatcctcccgtcactctt	13	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4947141G>A	uc003sno.3	-	7	895	c.699C>T	c.(697-699)CCC>CCT	p.P233P	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Silent_p.P209P|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	233	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CGTGGGCAAAGGGGATCCTCC	0.582													A	4947141	G	A	4947141	2	1	272	1	0	0	0	0	0	0	0	1	9644	987	35	4		4	MMD2	7	4947141	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	47281	4947141	154191522	788	135899											
WIPI2	26100	broad.mit.edu	37	chr7	5266847	5266847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accacctggaccgggtacttCgggaaagtgctcatggcctc	12	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:5266847C>T	uc003snv.2	+	10	1101	c.885C>T	c.(883-885)TTC>TTT	p.F295F	WIPI2_uc003snw.2_Silent_p.F295F|WIPI2_uc003snx.2_Silent_p.F277F|WIPI2_uc003sny.2_Silent_p.F277F|WIPI2_uc010ksv.2_Silent_p.F151F|WIPI2_uc003soa.2_Silent_p.F236F|WIPI2_uc003sob.2_Silent_p.F38F	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	295					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		CCGGGTACTTCGGGAAAGTGC	0.632													T	5266847	C	T	5266847	2	4	272	1	0	0	0	0	0	0	0	1	17368	883	31	1		1	WIPI2	7	5266847	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	319706	5266847	153871816	789	135900											
TNRC18	84629	broad.mit.edu	37	chr7	5410321	5410321	+	Frame_Shift_Del	DEL	C	C	-													caggctcgggcactgtccctCcccggcgggcacgtcacagt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:5410321delC	uc003soi.3	-	11	4253	c.3904delG	c.(3904-3906)GAGfs	p.E1302fs		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1302							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CACTGTCCCTCCCCGGCGGGC	0.672													-	5410321	C	-	5410321	7	5	272	1	0	1	0	1	0	0	0	0	16336	864	30	0	5082	0	TNRC18	7	5410321	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	143474	5410321	153728342	790	135901											
ZDHHC4	55146	broad.mit.edu	37	chr7	6624647	6624648	+	Splice_Site	DEL	GT	GT	-													gcccccttgtttctgtgcagGtgtgtgtaactggtgtgtgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:6624646_6624647GGT>G	uc003sqi.3	+	8	855	c.497_splice	c.e8-1	p.S166_splice	ZDHHC4_uc003sql.3_Splice_Site_p.S166_splice|ZDHHC4_uc003sqj.3_Splice_Site_p.S166_splice|ZDHHC4_uc003sqh.3_Splice_Site_p.S166_splice	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	166						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TTTCTGTGCAGGTGTGTGTAAC	0.52													-	6624648	GT	-	6624647	8	5	272	1	0	1	0	1	0	0	1	0	17614	1275	44	0	515	0	ZDHHC4	7	6624647	Splice_Site	DEL	GT	TCGA-HU-A4GQ-01A-11D-A25D-08	1214326	6624647	152514016	791	135902											
GLCCI1	113263	broad.mit.edu	37	chr7	8124630	8124630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggatgtgagcgagtgaaGgtctttgaggaaatggcgta	18	3	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:8124630G>T	uc003srk.2	+	7	1840	c.1281G>T	c.(1279-1281)AAG>AAT	p.K427N		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	427											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGCGAGTGAAGGTCTTTGAGG	0.453													T	8124630	G	T	8124630	3	4	272	1	0	0	0	0	1	0	0	0	6431	991	35	5	1307	5	GLCCI1	7	8124630	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1499983	8124630	151014033	792	135903											
PHF14	9678	broad.mit.edu	37	chr7	11062500	11062500	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttctcttcttagatgggTtcatattgtttgtgccctgt	8	8	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:11062500T>A	uc003sry.1	+	6	1646	c.1211T>A	c.(1210-1212)GTT>GAT	p.V404D	PHF14_uc011jxi.1_Missense_Mutation_p.V119D|PHF14_uc003srz.2_Missense_Mutation_p.V404D|PHF14_uc011jxj.1_Missense_Mutation_p.V119D	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	404							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CTTAGATGGGTTCATATTGTT	0.338													A	11062500	T	A	11062500	3	1	272	1	0	0	0	0	1	0	0	0	11825	1725	60	5	1233	5	PHF14	7	11062500	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2937870	11062500	148076163	793	135904											
NUPL2	11097	broad.mit.edu	37	chr7	23239157	23239157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagcaacatttatgtcGccaggtaagtgataaagtaa	9	7	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:23239157G>A	uc003svu.2	+	6	949	c.690G>A	c.(688-690)TCG>TCA	p.S230S	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Silent_p.S107S|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Silent_p.S107S|NUPL2_uc011jyx.1_Silent_p.S2S	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	230					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						CATTTATGTCGCCAGGTAAGT	0.363													A	23239157	G	A	23239157	2	1	272	1	0	0	0	0	0	0	0	1	10775	1074	38	1		1	NUPL2	7	23239157	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	12176657	23239157	135899506	794	135905											
C7orf30	115416	broad.mit.edu	37	chr7	23339094	23339094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgctggccgtgcagcgGcttcccgtaggagcagcgtt	16	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:23339094G>A	uc003swd.1	+	1	155	c.123G>A	c.(121-123)CGG>CGA	p.R41R		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	41						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			CCGTGCAGCGGCTTCCCGTAG	0.726													A	23339094	G	A	23339094	2	1	272	1	0	0	0	0	0	0	0	1	2386	1190	42	2		2	C7orf30	7	23339094	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	99937	23339094	135799569	795	135906											
MPP6	51678	broad.mit.edu	37	chr7	24720064	24720064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctatgtggtatttattgcGgctccggagctagagacgtt	12	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:24720064G>A	uc003swx.2	+	12	1670	c.1371G>A	c.(1369-1371)GCG>GCA	p.A457A	MPP6_uc003swy.2_Silent_p.A457A|MPP6_uc010kur.2_Silent_p.A125A	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	457	Guanylate kinase-like.				protein complex assembly		protein binding				0						TATTTATTGCGGCTCCGGAGC	0.418													A	24720064	G	A	24720064	2	1	272	1	0	0	0	0	0	0	0	1	9738	1103	39	1		1	MPP6	7	24720064	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1380970	24720064	134418599	796	135907											
HOXA7	3204	broad.mit.edu	37	chr7	27194754	27194754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaatgcggcggcgccgcGtcaggtagcggttgaagtgg	17	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:27194754G>A	uc003sys.2	-	2	599	c.467C>T	c.(466-468)ACG>ATG	p.T156M	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	156	Homeobox.				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				0						GCGGCGCCGCGTCAGGTAGCG	0.602													A	27194754	G	A	27194754	3	1	272	1	0	0	0	0	1	0	0	0	7297	1145	40	1	229	1	HOXA7	7	27194754	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2474690	27194754	131943909	797	135908											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094883	30094883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattatgtagctttagtgacAttgaacttctggaagacagt	9	5	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:30094883A>G	uc003tam.1	+	9	1055	c.964A>G	c.(964-966)ATT>GTT	p.I322V	PLEKHA8_uc003tao.2_Missense_Mutation_p.I206V|PLEKHA8_uc003tap.1_Missense_Mutation_p.I322V|PLEKHA8_uc003tan.2_Missense_Mutation_p.I322V	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	322					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						CTTTAGTGACATTGAACTTCT	0.413													G	30094883	A	G	30094883	3	3	272	1	0	0	0	0	1	0	0	0	12062	217	8	3	998	3	PLEKHA8	7	30094883	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2900129	30094883	129043780	798	135909											
NEUROD6	63974	broad.mit.edu	37	chr7	31378410	31378410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttggacgaatgtgagcAgatctggtctcttgccgatt	12	7	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:31378410A>G	uc003tch.2	-	2	826	c.473T>C	c.(472-474)CTG>CCG	p.L158P		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	158					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						GAATGTGAGCAGATCTGGTCT	0.463													G	31378410	A	G	31378410	3	3	272	1	0	0	0	0	1	0	0	0	10351	188	7	3	544	3	NEUROD6	7	31378410	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1283527	31378410	127760253	799	135910											
KBTBD2	25948	broad.mit.edu	37	chr7	32909627	32909627	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catctttctcagtgtcgtatCtttctacggtcctccgatta	6	12	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:32909627C>A	uc003tdb.2	-	4	1861	c.1202G>T	c.(1201-1203)AGA>ATA	p.R401I	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	401	Kelch 2.										0			GBM - Glioblastoma multiforme(11;0.0499)			AGTGTCGTATCTTTCTACGGT	0.453													A	32909627	C	A	32909627	3	1	272	1	0	0	0	0	1	0	0	0	7993	913	32	5	673	5	KBTBD2	7	32909627	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1531217	32909627	126229036	800	135911											
EEPD1	80820	broad.mit.edu	37	chr7	36194488	36194488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggatggtatcaatgcCgccttcctggacaggatccg	13	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:36194488C>T	uc003tfa.2	+	2	1195	c.555C>T	c.(553-555)GCC>GCT	p.A185A		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	185					DNA repair		DNA binding				0						GTATCAATGCCGCCTTCCTGG	0.617													T	36194488	C	T	36194488	2	4	272	1	0	0	0	0	0	0	0	1	4932	639	23	1		1	EEPD1	7	36194488	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3284861	36194488	122944175	801	135912											
TXNDC3	51314	broad.mit.edu	37	chr7	37890310	37890310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgaaaaatgaactgaaCgaagacgaaattctgcattt	7	5	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:37890310C>T	uc003tfn.2	+	5	543	c.171C>T	c.(169-171)AAC>AAT	p.N57N		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	57	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ATGAACTGAACGAAGACGAAA	0.313									Kartagener_syndrome				T	37890310	C	T	37890310	2	4	272	1	0	0	0	0	0	0	0	1	16795	535	19	1		1	TXNDC3	7	37890310	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1695822	37890310	121248353	802	135913											
ARPP21	10777	broad.mit.edu	37	chr7	38313227	38313227	+	Frame_Shift_Del	DEL	T	T	-													tccgggaccaaataccttgaTttttttgcccaactcttgcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:38313226_38313226AT>A	uc003tge.1	-	3	766	c.389_389AT>T	c.(388-390)atcfs	p.I130fs	ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_Intron|ARPP21_uc010kxi.1_Intron|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						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						AAATACCTTGATTTTTTTGCC	0.393													-	38313227	T	-	38313227	7	5	272	1	0	1	0	1	0	0	0	0	978	1508	52	0		0	ARPP21	7	38313227	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	422917	38313227	120825436	803	135914											
C7orf25	79020	broad.mit.edu	37	chr7	42949913	42949913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgatctaacagagcgTtgactgctactatgtctcct	10	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:42949913T>C	uc003thw.2	-	2	1051	c.587A>G	c.(586-588)AAC>AGC	p.N196S	C7orf25_uc010kxq.2_Missense_Mutation_p.N196S|C7orf25_uc003thx.3_Missense_Mutation_p.N254S|C7orf25_uc010kxr.2_Missense_Mutation_p.N254S	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	196										skin(1)	1						TAACAGAGCGTTGACTGCTAC	0.468													C	42949913	T	C	42949913	3	2	272	1	0	0	0	0	1	0	0	0	2380	1725	60	3	682	3	C7orf25	7	42949913	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	4636686	42949913	116188750	804	135915											
HECW1	23072	broad.mit.edu	37	chr7	43547711	43547711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgaaacaagctctacgtcAcctttgttggagaggagggg	14	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:43547711A>G	uc003tid.1	+	23	4452	c.3847A>G	c.(3847-3849)ACC>GCC	p.T1283A	HECW1_uc011kbi.1_Missense_Mutation_p.T1249A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1283	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCTCTACGTCACCTTTGTTGG	0.522													G	43547711	A	G	43547711	3	3	272	1	0	0	0	0	1	0	0	0	7042	159	6	3	3929	3	HECW1	7	43547711	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	597798	43547711	115590952	805	135916											
URGCP	55665	broad.mit.edu	37	chr7	43917048	43917048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccctgtgacccagcggaCgggcatgctcagcgtgctcc	14	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:43917048C>T	uc003tiw.2	-	6	2071	c.2014G>A	c.(2014-2016)GTC>ATC	p.V672I	URGCP_uc003tiu.2_Missense_Mutation_p.V629I|URGCP_uc003tiv.2_Missense_Mutation_p.V597I|URGCP_uc003tix.2_Missense_Mutation_p.V663I|URGCP_uc003tiy.2_Missense_Mutation_p.V629I|URGCP_uc003tiz.2_Missense_Mutation_p.V629I|URGCP_uc011kbj.1_Missense_Mutation_p.V629I	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	672					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						ACCCAGCGGACGGGCATGCTC	0.647													T	43917048	C	T	43917048	3	4	272	1	0	0	0	0	1	0	0	0	17023	536	19	1	785	1	URGCP	7	43917048	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	369337	43917048	115221615	806	135917											
DBNL	28988	broad.mit.edu	37	chr7	44099178	44099178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgcccagcactcctcCatgtctggtgcaggcagaag	13	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:44099178C>T	uc003tjp.3	+	11	1066	c.968C>T	c.(967-969)CCA>CTA	p.P323L	DBNL_uc003tjo.3_Missense_Mutation_p.P324L|DBNL_uc003tjr.3_Missense_Mutation_p.P196L|DBNL_uc003tjq.3_Missense_Mutation_p.P332L|DBNL_uc011kbm.1_Missense_Mutation_p.P299L|DBNL_uc011kbn.1_Missense_Mutation_p.P220L|DBNL_uc011kbo.1_Missense_Mutation_p.P224L|DBNL_uc011kbp.1_Missense_Mutation_p.P275L|DBNL_uc011kbq.1_Missense_Mutation_p.P248L|DBNL_uc011kbr.1_Missense_Mutation_p.P272L|DBNL_uc011kbs.1_Missense_Mutation_p.P228L	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	323					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			skin(1)	1						AGCACTCCTCCATGTCTGGTG	0.617													T	44099178	C	T	44099178	3	4	272	1	0	0	0	0	1	0	0	0	4255	594	21	4	1037	4	DBNL	7	44099178	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	182130	44099178	115039485	807	135918											
ADCY1	107	broad.mit.edu	37	chr7	45750148	45750148	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcaatgttggccctgtggTggctggagtgattggcgctc	15	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:45750148T>A	uc003tne.3	+	19	2972	c.2954T>A	c.(2953-2955)GTG>GAG	p.V985E		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	985	Cytoplasmic (Potential).				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			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCCTGTGGTGGCTGGAGTG	0.577													A	45750148	T	A	45750148	3	1	272	1	0	0	0	0	1	0	0	0	292	1696	59	5	3028	5	ADCY1	7	45750148	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1650970	45750148	113388515	808	135919											
PKD1L1	168507	broad.mit.edu	37	chr7	47876598	47876598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggacacggtgaggcgcGgcgtgtgcaggtagcggctg	20	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:47876598G>A	uc003tny.1	-	37	5864	c.5864C>T	c.(5863-5865)CCG>CTG	p.P1955L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1955	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGTGAGGCGCGGCGTGTGCAG	0.582													A	47876598	G	A	47876598	3	1	272	1	0	0	0	0	1	0	0	0	11964	1116	39	1	2769	1	PKD1L1	7	47876598	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2126450	47876598	111262065	809	135920											
PKD1L1	168507	broad.mit.edu	37	chr7	47917170	47917170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctgacaggccatgtcccGaggagccgggttgactgtca	13	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:47917170G>A	uc003tny.1	-	22	3580	c.3580C>T	c.(3580-3582)CGG>TGG	p.R1194W		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1194	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GCCATGTCCCGAGGAGCCGGG	0.542													A	47917170	G	A	47917170	3	1	272	1	0	0	0	0	1	0	0	0	11964	1057	37	1	5113	1	PKD1L1	7	47917170	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	40572	47917170	111221493	810	135921											
POM121L12	285877	broad.mit.edu	37	chr7	53103537	53103537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctggcccctgaggtcccTgactcagagccatattcagt	9	15	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:53103537T>C	uc003tpz.2	+	1	189	c.173T>C	c.(172-174)CTG>CCG	p.L58P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	58											0						CTGAGGTCCCTGACTCAGAGC	0.711													C	53103537	T	C	53103537	3	2	272	1	0	0	0	0	1	0	0	0	12241	1580	55	3	175	3	POM121L12	7	53103537	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	5186367	53103537	106035126	811	135922											
LANCL2	55915	broad.mit.edu	37	chr7	55467786	55467786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcaccgtgtgtgagtcaGctattaaagaggtactatgg	13	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:55467786G>T	uc003tqp.2	+	4	1245	c.667G>T	c.(667-669)GCT>TCT	p.A223S		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	223					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			ovary(1)|skin(1)	2	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)			GTGTGAGTCAGCTATTAAAGA	0.453													T	55467786	G	T	55467786	3	4	272	1	0	0	0	0	1	0	0	0	8621	971	34	5	681	5	LANCL2	7	55467786	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2364249	55467786	103670877	812	135923											
CCT6A	908	broad.mit.edu	37	chr7	56126071	56126072	+	Frame_Shift_Ins	INS	-	-	T													tagagaagtgaattctggctINSttttttacaagagtgcagaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:56126070_56126071C>CT	uc003trl.1	+	6	905_906	c.741_742C>CT	c.(739-744)ggctttfs	p.G247fs	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Frame_Shift_Ins_p.G202fs|CCT6A_uc011kcu.1_Frame_Shift_Ins_p.G216fs|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	247					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	p.Y250fs*11(1)		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)			TGAATTCTGGCTTTTTTTACAA	0.317													T	56126072	-	T	56126071	7	5	272	1	0	1	1	0	0	0	0	0	2957	1609	56	0	768	0	CCT6A	7	56126071	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	658285	56126071	103012592	813	135924											
ZNF680	340252	broad.mit.edu	37	chr7	63982808	63982808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttccatatcctctcagTatcactttttgaaaagaatc	3	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:63982808T>C	uc003tta.2	-	4	497	c.324A>G	c.(322-324)ATA>ATG	p.I108M	ZNF680_uc010kzr.2_Missense_Mutation_p.I35M	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				ATCCTCTCAGTATCACTTTTT	0.318													C	63982808	T	C	63982808	3	2	272	1	0	0	0	0	1	0	0	0	18084	1628	57	3	1272	3	ZNF680	7	63982808	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	7856737	63982808	95155855	814	135925											
WBSCR17	64409	broad.mit.edu	37	chr7	71036318	71036318	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtcaacaggaagttcttCggtgaaattggtcttctgga	13	6	4	1	rs144325682		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:71036318C>T	uc003tvy.2	+	6	1011	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F	WBSCR17_uc003tvz.2_Silent_p.F36F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	337	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAAGTTCTTCGGTGAAATTG	0.507													T	71036318	C	T	71036318	2	4	272	1	0	0	0	0	0	0	0	1	17261	883	31	1		1	WBSCR17	7	71036318	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7053510	71036318	88102345	815	135926											
MLXIPL	51085	broad.mit.edu	37	chr7	73008616	73008616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtacttggccggagagCgggcagagagcagtactggt	16	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:73008616C>T	uc003tyn.1	-	16	2476	c.2428G>A	c.(2428-2430)GCT>ACT	p.A810T	MLXIPL_uc003tyj.1_Missense_Mutation_p.A189T|MLXIPL_uc003tyk.1_Missense_Mutation_p.A789T|MLXIPL_uc003tyl.1_Missense_Mutation_p.A808T|MLXIPL_uc003tym.1_Missense_Mutation_p.A791T|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.A716T	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	810					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			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGCCGGAGAGCGGGCAGAGAG	0.627													T	73008616	C	T	73008616	3	4	272	1	0	0	0	0	1	0	0	0	9637	768	27	1	138	1	MLXIPL	7	73008616	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1972298	73008616	86130047	816	135927											
ELN	2006	broad.mit.edu	37	chr7	73456948	73456948	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctcccctccgcagggctCggcgccttccccgcagttac	9	20	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:73456948C>T	uc003tzw.2	+	6	328	c.237C>T	c.(235-237)CTC>CTT	p.L79L	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Intron|ELN_uc003tzn.2_Silent_p.L79L|ELN_uc003tzz.2_Silent_p.L67L|ELN_uc003tzo.2_Silent_p.L79L|ELN_uc003tzp.2_Silent_p.L69L|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.L79L|ELN_uc003tzt.2_Silent_p.L79L|ELN_uc003tzu.2_Silent_p.L79L|ELN_uc003tzv.2_Silent_p.L69L|ELN_uc003tzx.2_Silent_p.L69L|ELN_uc011kff.1_Silent_p.L79L|ELN_uc003tzy.2_Silent_p.L69L	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	79					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCGCAGGGCTCGGCGCCTTCC	0.637			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						T	73456948	C	T	73456948	2	4	272	1	0	0	0	0	0	0	0	1	5071	871	31	1		1	ELN	7	73456948	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	448332	73456948	85681715	817	135928											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74211440	74211440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcagggtgggaaagtggGccagattattcctcgtcaaa	12	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:74211440G>A	uc003ubd.1	-	16	2595	c.2411C>T	c.(2410-2412)GCC>GTC	p.A804V	GTF2IRD2_uc010lbt.1_Missense_Mutation_p.A351V	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						gggaaagtgggccagattatt	0													A	74211440	G	A	74211440	3	1	272	1	0	0	0	0	1	0	0	0	6869	1203	42	2	442	2	GTF2IRD2	7	74211440	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	754492	74211440	84927223	818	135929											
HIP1	3092	broad.mit.edu	37	chr7	75178286	75178286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttgatgtccagtcccCtgggcaggagctcctgtgaa	12	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:75178286C>T	uc003uds.1	-	23	2350	c.2309G>A	c.(2308-2310)AGG>AAG	p.R770K	HIP1_uc011kfz.1_Missense_Mutation_p.R647K	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	770					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			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GTCCAGTCCCCTGGGCAGGAG	0.562			T	PDGFRB	CMML								T	75178286	C	T	75178286	3	4	272	1	0	0	0	0	1	0	0	0	7114	681	24	4	840	4	HIP1	7	75178286	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	966846	75178286	83960377	819	135930											
CCL24	6369	broad.mit.edu	37	chr7	75441248	75441248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccactcctgcttggggtCgccacagaactgctggccct	11	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:75441248C>T	uc011kga.1	-	3	226	c.226G>A	c.(226-228)GAC>AAC	p.D76N		NM_002991	NP_002982	O00175	CCL24_HUMAN	small inducible cytokine A24 precursor	76					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity				0						TGCTTGGGGTCGCCACAGAAC	0.602													T	75441248	C	T	75441248	3	4	272	1	0	0	0	0	1	0	0	0	2896	884	31	1	135	1	CCL24	7	75441248	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	262962	75441248	83697415	820	135931											
FGL2	10875	broad.mit.edu	37	chr7	76825678	76825678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagggtgtgcctcacttAcaccaggccaggtaccccag	10	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:76825678A>G	uc003ugb.2	-	2	1278	c.1238T>C	c.(1237-1239)GTA>GCA	p.V413A	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	413	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						TGCCTCACTTACACCAGGCCA	0.438													G	76825678	A	G	76825678	3	3	272	1	0	0	0	0	1	0	0	0	5873	391	14	3	85	3	FGL2	7	76825678	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1384430	76825678	82312985	821	135932											
PION	54103	broad.mit.edu	37	chr7	76982304	76982304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggcaatagtttgtccAtgttacttgtctctgaatat	8	6	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:76982304A>G	uc003ugf.2	-	18	1527	c.1448T>C	c.(1447-1449)ATG>ACG	p.M483T	PION_uc003ugg.1_Missense_Mutation_p.M268T	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	483					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						TAGTTTGTCCATGTTACTTGT	0.368													G	76982304	A	G	76982304	3	3	272	1	0	0	0	0	1	0	0	0	11934	217	8	3	1172	3	PION	7	76982304	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	156626	76982304	82156359	822	135933											
RSBN1L	222194	broad.mit.edu	37	chr7	77379031	77379031	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctcattaaaggagccaCgagttcagaataacctcaaa	7	9	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:77379031C>T	uc010ldt.1	+	3	1038	c.994C>T	c.(994-996)CGA>TGA	p.R332*	RSBN1L_uc003ugm.2_Nonsense_Mutation_p.R114*	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	332						nucleus				ovary(1)	1						AAAGGAGCCACGAGTTCAGAA	0.383													T	77379031	C	T	77379031	4	4	272	1	0	0	0	0	0	1	0	0	13697	528	19	1	1004	1	RSBN1L	7	77379031	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	396727	77379031	81759632	823	135934											
RSBN1L	222194	broad.mit.edu	37	chr7	77408242	77408242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaatcaaggaagaaccTgtgaatgttaatattcctga	9	5	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:77408242T>C	uc010ldt.1	+	8	2342	c.2298T>C	c.(2296-2298)CCT>CCC	p.P766P	RSBN1L_uc003ugm.2_Silent_p.P548P	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	766						nucleus				ovary(1)	1						AGGAAGAACCTGTGAATGTTA	0.318													C	77408242	T	C	77408242	2	2	272	1	0	0	0	0	0	0	0	1	13697	1567	55	3		3	RSBN1L	7	77408242	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	29211	77408242	81730421	824	135935											
MAGI2	9863	broad.mit.edu	37	chr7	77807330	77807330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagattcaacttacagGctgtccaggctcatctcccc	7	13	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:77807330G>A	uc003ugx.2	-	14	2655	c.2401C>T	c.(2401-2403)CCT>TCT	p.P801S	MAGI2_uc003ugy.2_Missense_Mutation_p.P787S|MAGI2_uc010ldx.1_Missense_Mutation_p.P394S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	801	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAACTTACAGGCTGTCCAGGC	0.418													A	77807330	G	A	77807330	3	1	272	1	0	0	0	0	1	0	0	0	9191	1203	42	2	2002	2	MAGI2	7	77807330	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	399088	77807330	81331333	825	135936											
PCLO	27445	broad.mit.edu	37	chr7	82585022	82585023	+	Frame_Shift_Ins	INS	-	-	T													gttgctgtttgctctctcctINStttttgtgactcgggctact							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:82585021_82585022C>CT	uc003uhx.2	-	4	5536_5537	c.5247_5248G>AG	c.(5245-5250)aaaggafs	p.K1749fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K1749fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1680					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1750E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTCTCTCCTTTTTTGTGAC	0.475													T	82585023	-	T	82585022	7	5	272	1	0	1	1	0	0	0	0	0	11583	1606	56	0	10282	0	PCLO	7	82585022	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	4777692	82585022	76553641	826	135937											
PCLO	27445	broad.mit.edu	37	chr7	82585203	82585204	+	Frame_Shift_Ins	INS	-	-	T													ttcgtcaaaatacaaacttgINStttttttctgtgatgactct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:82585203_82585204insT	uc003uhx.2	-	5	5354_5355	c.5065_5066insA	c.(5065-5067)ACAfs	p.T1689fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.T1689fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATACAAACTTGTTTTTTTCTGT	0.426													T	82585204	-	T	82585203	7	5	272	1	0	1	1	0	0	0	0	0	11583	1377	48	0	10463	0	PCLO	7	82585203	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	181	82585203	76553460	827	135938	703	2									
PCLO	27445	broad.mit.edu	37	chr7	82585204	82585205	+	Frame_Shift_Ins	INS	-	-	T													tcgtcaaaatacaaacttgtINSttttttctgtgatgactctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:82585203_82585204G>GT	uc003uhx.2	-	4	5354_5355	c.5065_5066C>AC	c.(5065-5067)acafs	p.T1689fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.T1689fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1689K(3)|p.T1689fs*6(1)|p.T1620fs*6(1)|p.T1620K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACAAACTTGTTTTTTTCTGT	0.426													T	82585205	-	T	82585204	7	5	272	1	0	1	1	0	0	0	0	0	11583	1725	60	0	10464	0	PCLO	7	82585204	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	82585204	76553459	828	135939	703	2									
SEMA3A	10371	broad.mit.edu	37	chr7	83606510	83606510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatatcttgtcgtcttgtgCgtctgaagcaattacattta	7	7	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:83606510C>T	uc003uhz.2	-	15	1970	c.1655G>A	c.(1654-1656)CGC>CAC	p.R552H		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	552					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TCGTCTTGTGCGTCTGAAGCA	0.328													T	83606510	C	T	83606510	3	4	272	1	0	0	0	0	1	0	0	0	14024	768	27	1	672	1	SEMA3A	7	83606510	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1021306	83606510	75532153	829	135940											
GRM3	2913	broad.mit.edu	37	chr7	86468893	86468893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatcagccccagttctcAggttttcatctgcctgggtc	8	13	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:86468893A>G	uc003uid.2	+	4	3162	c.2063A>G	c.(2062-2064)CAG>CGG	p.Q688R	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.Q560R|GRM3_uc010leh.2_Missense_Mutation_p.Q280R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	688	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCAGTTCTCAGGTTTTCATC	0.542													G	86468893	A	G	86468893	3	3	272	1	0	0	0	0	1	0	0	0	6798	188	7	3	2073	3	GRM3	7	86468893	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2862383	86468893	72669770	830	135941											
C7orf64	84060	broad.mit.edu	37	chr7	92161755	92161755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgaacagagtttcttcGgtggattgcttcatgtgtgc	13	6	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:92161755G>A	uc003ulz.2	+	3	381	c.340G>A	c.(340-342)GGT>AGT	p.G114S	C7orf64_uc011khu.1_Missense_Mutation_p.G114S|C7orf64_uc003uma.2_Missense_Mutation_p.G114S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	114							nucleotide binding			ovary(2)	2						GAGTTTCTTCGGTGGATTGCT	0.353													A	92161755	G	A	92161755	3	1	272	1	0	0	0	0	1	0	0	0	2410	1116	39	1	350	1	C7orf64	7	92161755	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5692862	92161755	66976908	831	135942											
SAMD9	54809	broad.mit.edu	37	chr7	92731909	92731909	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctatcttcactttgctGttgagattctttgaatgcac	6	10	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:92731909G>A	uc003umf.2	-	3	3758	c.3502C>T	c.(3502-3504)CAG>TAG	p.Q1168*	SAMD9_uc003umg.2_Nonsense_Mutation_p.Q1168*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1168						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	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)			TCACTTTGCTGTTGAGATTCT	0.383													A	92731909	G	A	92731909	4	1	272	1	0	0	0	0	0	1	0	0	13826	1386	48	4	1271	4	SAMD9	7	92731909	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	570154	92731909	66406754	832	135943											
COL1A2	1278	broad.mit.edu	37	chr7	94045723	94045723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacttttttcagggggaaCgcggtcccccaggtgagagt	13	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:94045723C>T	uc003ung.1	+	31	2242	c.1771C>T	c.(1771-1773)CGC>TGC	p.R591C	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	591					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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCAGGGGGAACGCGGTCCCCC	0.493										HNSCC(75;0.22)			T	94045723	C	T	94045723	3	4	272	1	0	0	0	0	1	0	0	0	3678	536	19	1	1893	1	COL1A2	7	94045723	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1313814	94045723	65092940	833	135944											
COL1A2	1278	broad.mit.edu	37	chr7	94050333	94050333	+	Frame_Shift_Del	DEL	C	C	-													gcatttagggtccaaatggtCcccccggtcctgctggaagt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:94050332_94050332TC>T	uc003ung.1	+	37	2778	c.2307_2307TC>T	c.(2305-2307)ggtfs	p.G769fs	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	769			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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)	GTCCAAATGGTCCCCCCGGTC	0.453										HNSCC(75;0.22)			-	94050333	C	-	94050333	7	5	272	1	0	1	0	1	0	0	0	0	3678	855	30	0	2458	0	COL1A2	7	94050333	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4610	94050333	65088330	834	135945											
COL1A2	1278	broad.mit.edu	37	chr7	94050368	94050368	+	Frame_Shift_Del	DEL	C	C	-													ggaagtcgtggtgatggaggCccccctgtgagtatttacaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:94050367_94050367GC>G	uc003ung.1	+	37	2813	c.2342_2342GC>G	c.(2341-2343)ggcfs	p.G781fs	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	781			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|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.G781C(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)	GGTGATGGAGGCCCCCCTGTG	0.418										HNSCC(75;0.22)			-	94050368	C	-	94050368	7	5	272	1	0	1	0	1	0	0	0	0	3678	726	26	0	2493	0	COL1A2	7	94050368	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	35	94050368	65088295	835	135946											
PON2	5445	broad.mit.edu	37	chr7	95039303	95039303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgtagtaaacaacatttGcccagtgtaagttcaagtat	8	7	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:95039303G>T	uc003unv.2	-	6	726	c.605C>A	c.(604-606)GCA>GAA	p.A202E	PON2_uc003unu.2_Missense_Mutation_p.A190E|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.A115E	NM_000305	NP_000296	Q15165	PON2_HUMAN	paraoxonase 2 isoform 1	202					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			AACAACATTTGCCCAGTGTAA	0.388													T	95039303	G	T	95039303	3	4	272	1	0	0	0	0	1	0	0	0	12249	1319	46	5	475	5	PON2	7	95039303	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	988935	95039303	64099360	836	135947											
DYNC1I1	1780	broad.mit.edu	37	chr7	95709775	95709775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggggactcggaaggccGtatttgggtctatgacgttg	16	6	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:95709775G>A	uc003uoc.3	+	16	2079	c.1802G>A	c.(1801-1803)CGT>CAT	p.R601H	DYNC1I1_uc003uod.3_Missense_Mutation_p.R584H|DYNC1I1_uc003uob.2_Missense_Mutation_p.R564H|DYNC1I1_uc003uoe.3_Missense_Mutation_p.R581H|DYNC1I1_uc010lfl.2_Missense_Mutation_p.R590H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	601	WD 7.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	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)			TCGGAAGGCCGTATTTGGGTC	0.473													A	95709775	G	A	95709775	3	1	272	1	0	0	0	0	1	0	0	0	4842	1145	40	1	1860	1	DYNC1I1	7	95709775	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	670472	95709775	63428888	837	135948											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97946626	97946626	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgggatttctccaaagactCtaatttattcttgtgttctg	7	7	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:97946626C>T	uc003upj.2	-	6	654	c.391G>A	c.(391-393)GAG>AAG	p.E131K		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	131	Potential.|IMD.				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			ovary(1)	1	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)			TCCAAAGACTCTAATTTATTC	0.393													T	97946626	C	T	97946626	3	4	272	1	0	0	0	0	1	0	0	0	1302	922	32	4	1180	4	BAIAP2L1	7	97946626	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2236851	97946626	61192037	838	135949											
CPSF4	10898	broad.mit.edu	37	chr7	99042416	99042416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcctttctacagagtcGggcgctgctgtctgtgaatt	10	11	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:99042416G>A	uc003uqj.2	+	2	251	c.108G>A	c.(106-108)TCG>TCA	p.S36S	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.S36S|CPSF4_uc003uqk.2_Silent_p.S36S|CPSF4_uc011kix.1_5'UTR	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	36	C3H1-type 1.				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	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)					CTACAGAGTCGGGCGCTGCTG	0.527													A	99042416	G	A	99042416	2	1	272	1	0	0	0	0	0	0	0	1	3828	1103	39	1		1	CPSF4	7	99042416	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1095790	99042416	60096247	839	135950											
CYP3A4	1576	broad.mit.edu	37	chr7	99377640	99377640	+	Frame_Shift_Del	DEL	A	A	-													ggtaggacaaaatatttcccAaaaaaggcagaggtgtgggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:99377640delA	uc003urv.1	-	2	244	c.140delT	c.(139-141)TTGfs	p.L47fs	CYP3A4_uc003urw.1_Frame_Shift_Del_p.L47fs|CYP3A4_uc011kiz.1_Frame_Shift_Del_p.L47fs|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	47					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			central_nervous_system(3)|ovary(1)	4	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)	AATATTTCCCAAAAAAGGCAG	0.403													-	99377640	A	-	99377640	7	5	272	1	0	1	0	1	0	0	0	0	4178	131	5	0	1419	0	CYP3A4	7	99377640	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	335224	99377640	59761023	840	135951											
ZAN	7455	broad.mit.edu	37	chr7	100334234	100334234	+	Frame_Shift_Del	DEL	G	G	-													ccggctccaccggggcccccGgggggtaccctaacggaggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100334233_100334233CG>C	uc003uwj.3	+	3	399	c.234_234CG>C	c.(232-234)cccfs	p.P78fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.P78fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	78	MAM 1.				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)			CCGGGGCCCCCGGGGGGTACC	0.652													-	100334234	G	-	100334234	7	5	272	1	0	1	0	1	0	0	0	0	17510	1116	39	0	245	0	ZAN	7	100334234	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	956594	100334234	58804429	841	135952											
ACHE	43	broad.mit.edu	37	chr7	100491206	100491208	+	In_Frame_Del	DEL	CTC	CTC	-													cccccgaaggctgccacgttCtcctgcacccactgcagggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100491205_100491207TCTC>T	uc003uxd.3	-	0	803_805	c.647_649GAGA>A	c.(646-651)gagaac>gAac	p.N217del	ACHE_uc003uxe.3_In_Frame_Del_p.N217del|ACHE_uc003uxf.3_In_Frame_Del_p.N217del|ACHE_uc003uxg.3_In_Frame_Del_p.N217del|ACHE_uc003uxh.3_In_Frame_Del_p.N217del|ACHE_uc003uxi.3_In_Frame_Del_p.N217del|ACHE_uc003uxj.1_In_Frame_Del_p.N336del	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	217					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCTGCCACGTTCTCCTGCACCCA	0.704													-	100491208	CTC	-	100491206	7	5	272	1	0	1	0	1	0	0	0	0	141	912	32	0	1347	0	ACHE	7	100491206	In_Frame_Del	DEL	CTC	TCGA-HU-A4GQ-01A-11D-A25D-08	156972	100491206	58647457	842	135953											
MUC17	140453	broad.mit.edu	37	chr7	100679802	100679802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcagaacaacaccggTggccagctctgcaatcagca	9	13	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100679802T>C	uc003uxp.1	+	3	5158	c.5105T>C	c.(5104-5106)GTG>GCG	p.V1702A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1702	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|26.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACACCGGTGGCCAGCTCT	0.473													C	100679802	T	C	100679802	3	2	272	1	0	0	0	0	1	0	0	0	9974	1696	59	3	5115	3	MUC17	7	100679802	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	188596	100679802	58458861	843	135954											
PLOD3	8985	broad.mit.edu	37	chr7	100855554	100855554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccatgtccctggcctcGcctgggctcagagcctcctc	11	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100855554G>A	uc003uyd.2	-	10	1563	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	PLOD3_uc010lhs.2_5'UTR	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	369					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTGGCCTCGCCTGGGCTCA	0.662													A	100855554	G	A	100855554	2	1	272	1	0	0	0	0	0	0	0	1	12103	1074	38	1		1	PLOD3	7	100855554	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	175752	100855554	58283109	844	135955											
PLOD3	8985	broad.mit.edu	37	chr7	100859469	100859469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattgaggaagcgcttcccCgtgcccacctcagggtactg	12	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100859469C>T	uc003uyd.2	-	4	933	c.477G>A	c.(475-477)ACG>ACA	p.T159T	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	159					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCGCTTCCCCGTGCCCACCT	0.632													T	100859469	C	T	100859469	2	4	272	1	0	0	0	0	0	0	0	1	12103	639	23	1		1	PLOD3	7	100859469	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3915	100859469	58279194	845	135956											
EMID2	136227	broad.mit.edu	37	chr7	101187338	101187338	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgggtctaaaggtgacCgaggccagacaggagagaag	15	11	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:101187338C>T	uc010lhy.1	+	6	850	c.658C>T	c.(658-660)CGA>TGA	p.R220*	EMID2_uc003uyo.1_Nonsense_Mutation_p.R222*	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	222	Collagen-like 1.					collagen				ovary(1)	1	Lung NSC(181;0.215)					TAAAGGTGACCGAGGCCAGAC	0.637													T	101187338	C	T	101187338	4	4	272	1	0	0	0	0	0	1	0	0	5092	644	23	1	680	1	EMID2	7	101187338	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	327869	101187338	57951325	846	135957											
RELN	5649	broad.mit.edu	37	chr7	103234873	103234873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcctcccctgagaacacGggctgccaccagcggaacct	10	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:103234873G>A	uc003vca.2	-	26	3766	c.3606C>T	c.(3604-3606)CCC>CCT	p.P1202P	RELN_uc010liz.2_Silent_p.P1202P	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1202					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGAACACGGGCTGCCACC	0.488													A	103234873	G	A	103234873	2	1	272	1	0	0	0	0	0	0	0	1	13220	1103	39	1		1	RELN	7	103234873	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2047535	103234873	55903790	847	135958											
RELN	5649	broad.mit.edu	37	chr7	103322570	103322570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaattacttaccctgtagGctggctctcaaattcttctg	7	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:103322570G>A	uc003vca.2	-	11	1442	c.1282C>T	c.(1282-1284)CCT>TCT	p.P428S	RELN_uc010liz.2_Missense_Mutation_p.P428S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	428					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACCCTGTAGGCTGGCTCTCA	0.408													A	103322570	G	A	103322570	3	1	272	1	0	0	0	0	1	0	0	0	13220	1203	42	2	9320	2	RELN	7	103322570	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	87697	103322570	55816093	848	135959											
SRPK2	6733	broad.mit.edu	37	chr7	104773248	104773248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccttaccatacacgccGtgctccagatgtccgcaggg	10	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:104773248G>A	uc003vct.2	-	12	1896	c.1709C>T	c.(1708-1710)ACG>ATG	p.T570M	SRPK2_uc003vcu.2_Missense_Mutation_p.T570M|SRPK2_uc003vcv.2_Missense_Mutation_p.T581M|SRPK2_uc003vcs.1_RNA	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	570	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CATACACGCCGTGCTCCAGAT	0.562													A	104773248	G	A	104773248	3	1	272	1	0	0	0	0	1	0	0	0	15159	1145	40	1	373	1	SRPK2	7	104773248	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1450678	104773248	54365415	849	135960											
PUS7	54517	broad.mit.edu	37	chr7	105148864	105148864	+	Frame_Shift_Del	DEL	T	T	-													ctgcattccgacagcttctgTttttttgtctcttcaactgg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:105148863_105148863GT>G	uc010lji.3	-	0	105	c.97_97AC>C	c.(97-99)cagfs	p.Q33fs	PUS7_uc003vcx.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcy.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcz.1_Frame_Shift_Del_p.Q33fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	33					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GACAGCTTCTGTTTTTTTGTC	0.483													-	105148864	T	-	105148864	7	5	272	1	0	1	0	1	0	0	0	0	12833	1722	60	0	1949	0	PUS7	7	105148864	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	375616	105148864	53989799	850	135961											
SLC26A3	1811	broad.mit.edu	37	chr7	107418725	107418725	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtcatgatccaaattAactgtgaaaagaaagcaaca	8	6	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:107418725A>C	uc003ver.2	-	13	1620	c.1409T>G	c.(1408-1410)TTA>TGA	p.L470*	SLC26A3_uc003ves.2_Nonsense_Mutation_p.L435*	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	470	Helical; (Potential).				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			ovary(3)|skin(1)	4						GATCCAAATTAACTGTGAAAA	0.388													C	107418725	A	C	107418725	4	2	272	1	0	0	0	0	0	1	0	0	14518	376	13	5	921	5	SLC26A3	7	107418725	Nonsense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2269861	107418725	51719938	851	135962											
NRCAM	4897	broad.mit.edu	37	chr7	107820828	107820828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctttttctcaatgtgaCgtctgtttcttttagatgaa	8	6	4	3	rs151029926	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:107820828C>T	uc003vfb.2	-	25	3161	c.2690G>A	c.(2689-2691)CGT>CAT	p.R897H	NRCAM_uc003vfc.2_Missense_Mutation_p.R881H|NRCAM_uc011kmk.1_Missense_Mutation_p.R892H|NRCAM_uc003vfd.2_Missense_Mutation_p.R873H|NRCAM_uc003vfe.2_Missense_Mutation_p.R873H	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	897	Fibronectin type-III 3.|Extracellular (Potential).				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			ovary(3)|breast(2)	5						CTCAATGTGACGTCTGTTTCT	0.448													T	107820828	C	T	107820828	3	4	272	1	0	0	0	0	1	0	0	0	10644	536	19	1	1290	1	NRCAM	7	107820828	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	402103	107820828	51317835	852	135963											
DOCK4	9732	broad.mit.edu	37	chr7	111386418	111386418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagctctcttaatcgtGcaattttctccccatcttca	4	14	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:111386418G>A	uc003vfx.2	-	43	4891	c.4622C>T	c.(4621-4623)GCA>GTA	p.A1541V	DOCK4_uc011kml.1_Missense_Mutation_p.A422V|DOCK4_uc011kmm.1_Missense_Mutation_p.A448V|DOCK4_uc003vfw.2_Missense_Mutation_p.A991V|DOCK4_uc003vfy.2_Missense_Mutation_p.A1586V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1541	DHR-2.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCTTAATCGTGCAATTTTCTC	0.453													A	111386418	G	A	111386418	3	1	272	1	0	0	0	0	1	0	0	0	4689	1319	46	2	1318	2	DOCK4	7	111386418	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3565590	111386418	47752245	853	135964											
DOCK4	9732	broad.mit.edu	37	chr7	111629126	111629126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgtccttcatccggtcGtgggtgaggtggcccaccag	13	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:111629126G>A	uc003vfx.2	-	6	677	c.408C>T	c.(406-408)CAC>CAT	p.H136H	DOCK4_uc003vfy.2_Silent_p.H136H|DOCK4_uc003vga.1_Translation_Start_Site|DOCK4_uc010ljt.1_Silent_p.H136H|DOCK4_uc003vgb.1_Silent_p.H60H	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	136					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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCATCCGGTCGTGGGTGAGGT	0.562													A	111629126	G	A	111629126	2	1	272	1	0	0	0	0	0	0	0	1	4689	1136	40	1		1	DOCK4	7	111629126	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	242708	111629126	47509537	854	135965											
CFTR	1080	broad.mit.edu	37	chr7	117232305	117232305	+	Frame_Shift_Del	DEL	A	A	-													acagactggagagtttggggAaaaaaggaagaattctattc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:117232305delA	uc003vjd.2	+	14	2216	c.2084delA	c.(2083-2085)GAAfs	p.E695fs	CFTR_uc011knq.1_Frame_Shift_Del_p.E101fs	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	695	Cytoplasmic (Potential).				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			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAGTTTGGGGAAAAAAGGAAG	0.378									Cystic_Fibrosis				-	117232305	A	-	117232305	7	5	272	1	0	1	0	1	0	0	0	0	3294	246	9	0	2138	0	CFTR	7	117232305	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	5603179	117232305	41906358	855	135966											
CFTR	1080	broad.mit.edu	37	chr7	117282581	117282581	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgaaggagaaatccagatCgatggtgtgtcttgggattc	13	6	1	3	rs1800129		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:117282581C>T	uc003vjd.2	+	23	3939	c.3807C>T	c.(3805-3807)ATC>ATT	p.I1269I	CFTR_uc011knq.1_Silent_p.I675I	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1269	Cytoplasmic (Potential).|ABC transporter 2.				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			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAATCCAGATCGATGGTGTGT	0.438									Cystic_Fibrosis				T	117282581	C	T	117282581	2	4	272	1	0	0	0	0	0	0	0	1	3294	874	31	1		1	CFTR	7	117282581	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	50276	117282581	41856082	856	135967											
CADPS2	93664	broad.mit.edu	37	chr7	122194676	122194676	+	Frame_Shift_Del	DEL	T	T	-													ttaagtcagaatcctggctaTtttttggaactaccattcgg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:122194676delT	uc010lkp.2	-	8	1566	c.1403delA	c.(1402-1404)AATfs	p.N468fs	CADPS2_uc003vkg.3_Frame_Shift_Del_p.N168fs|CADPS2_uc010lkq.2_Frame_Shift_Del_p.N468fs	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	468					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						ATCCTGGCTATTTTTTGGAAC	0.363													-	122194676	T	-	122194676	7	5	272	1	0	1	0	1	0	0	0	0	2571	1493	52	0	2623	0	CADPS2	7	122194676	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	4912095	122194676	36943987	857	135968											
GPR37	2861	broad.mit.edu	37	chr7	124387030	124387030	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggattttcctcgcagtcActagagagcaggtgatggtg	14	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:124387030A>G	uc003vli.2	-	2	2042	c.1391T>C	c.(1390-1392)GTG>GCG	p.V464A		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	464	Helical; Name=5; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CCTCGCAGTCACTAGAGAGCA	0.483													G	124387030	A	G	124387030	3	3	272	1	0	0	0	0	1	0	0	0	6691	159	6	3	454	3	GPR37	7	124387030	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2192354	124387030	34751633	858	135969											
GRM8	2918	broad.mit.edu	37	chr7	126173169	126173169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaccatcaagaggataCtgtatccaagtgaacaaatg	9	7	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:126173169C>T	uc003vlr.2	-	8	2578	c.2267G>A	c.(2266-2268)AGT>AAT	p.S756N	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S756N|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	756	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAAGAGGATACTGTATCCAAG	0.438										HNSCC(24;0.065)			T	126173169	C	T	126173169	3	4	272	1	0	0	0	0	1	0	0	0	6803	565	20	4	521	4	GRM8	7	126173169	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1786139	126173169	32965494	859	135970											
IMPDH1	3614	broad.mit.edu	37	chr7	128040160	128040160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtacctttcttgctaCgctgcaggatctcatttgcc	8	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:128040160C>T	uc011kol.1	-	6	714	c.608G>A	c.(607-609)CGT>CAT	p.R203H	IMPDH1_uc011kom.1_Missense_Mutation_p.R198H|IMPDH1_uc003vmt.2_Missense_Mutation_p.R178H|IMPDH1_uc003vmu.2_Missense_Mutation_p.R288H|IMPDH1_uc003vmw.2_Missense_Mutation_p.R278H|IMPDH1_uc011kon.1_Missense_Mutation_p.R255H|IMPDH1_uc003vmv.2_Missense_Mutation_p.R252H|IMPDH1_uc003vmx.2_Missense_Mutation_p.R211H|IMPDH1_uc003vmy.2_Missense_Mutation_p.R219H	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	203	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TTTCTTGCTACGCTGCAGGAT	0.537													T	128040160	C	T	128040160	3	4	272	1	0	0	0	0	1	0	0	0	7726	536	19	1	972	1	IMPDH1	7	128040160	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1866991	128040160	31098503	860	135971											
CCDC136	64753	broad.mit.edu	37	chr7	128434431	128434436	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-													tactcccagctctctatgagGaggaagaggaagaggaagag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:128434431_128434436delGAGGAA	uc003vnv.1	+	2	413_418	c.46_51delGAGGAA	c.(46-51)GAGGAAdel	p.EE24del	CCDC136_uc003vnu.1_In_Frame_Del_p.EE74del|CCDC136_uc003vnw.1_In_Frame_Del_p.EE24del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	24_25	Glu-rich.					integral to membrane	protein binding			ovary(2)	2						TCTCTATgaggaggaagaggaagagg	0.403													-	128434436	GAGGAA	-	128434431	7	5	272	1	0	1	0	1	0	0	0	0	2770	1175	41	0	52	0	CCDC136	7	128434431	In_Frame_Del	DEL	GAGGAA	TCGA-HU-A4GQ-01A-11D-A25D-08	394271	128434431	30704232	861	135972											
SMO	6608	broad.mit.edu	37	chr7	128845572	128845572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttcatggatggtgcccGccgagagatcgtctgccgtg	14	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:128845572G>A	uc003vor.2	+	4	1149	c.869G>A	c.(868-870)CGC>CAC	p.R290H	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	290	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R290S(1)		skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GATGGTGCCCGCCGAGAGATC	0.582			Mis		skin basal cell 								A	128845572	G	A	128845572	3	1	272	1	0	0	0	0	1	0	0	0	14800	1087	38	1	883	1	SMO	7	128845572	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	411141	128845572	30293091	862	135973											
FAM40B	57464	broad.mit.edu	37	chr7	129096460	129096460	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccaccctccaagctgCgaggccgccgtggctctcga	10	20	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:129096460C>T	uc011koy.1	+	9	1055	c.1015C>T	c.(1015-1017)CGA>TGA	p.R339*	FAM40B_uc003vow.2_Nonsense_Mutation_p.R339*|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	339											0						CTCCAAGCTGCGAGGCCGCCG	0.567													T	129096460	C	T	129096460	4	4	272	1	0	0	0	0	0	1	0	0	5561	760	27	1	1049	1	FAM40B	7	129096460	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	250888	129096460	30042203	863	135974											
CPA1	1357	broad.mit.edu	37	chr7	130023575	130023575	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccgccattctcgacacCttggacatcttcctggagat	7	14	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:130023575C>A	uc003vpx.2	+	6	708	c.636C>A	c.(634-636)ACC>ACA	p.T212T	CPA1_uc011kpf.1_Silent_p.T124T|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	212					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTCTCGACACCTTGGACATCT	0.607													A	130023575	C	A	130023575	2	1	272	1	0	0	0	0	0	0	0	1	3789	668	24	5		5	CPA1	7	130023575	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	927115	130023575	29115088	864	135975											
WDR91	29062	broad.mit.edu	37	chr7	134878329	134878329	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtaggttccagttcaCctgggcatgttgtcgttgat	16	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:134878329C>T	uc003vsp.2	-	10	1552	c.1490_splice	c.e10+1	p.R497_splice	WDR91_uc010lmq.2_Splice_Site_p.R86_splice|WDR91_uc010lmr.2_Splice_Site	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91											breast(2)|ovary(1)|skin(1)	4						TTCCAGTTCACCTGGGCATGT	0.567													T	134878329	C	T	134878329	5	4	272	1	0	0	0	0	0	0	1	0	17335	521	18	4	776	4	WDR91	7	134878329	Splice_Site	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4854754	134878329	24260334	865	135976											
NUP205	23165	broad.mit.edu	37	chr7	135310080	135310080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccccttttaaaagcaCtttatacttatgaatctaaa	3	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:135310080C>T	uc003vsw.2	+	32	4679	c.4648C>T	c.(4648-4650)CTT>TTT	p.L1550F	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1550					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TTTAAAAGCACTTTATACTTA	0.378													T	135310080	C	T	135310080	3	4	272	1	0	0	0	0	1	0	0	0	10759	565	20	4	4774	4	NUP205	7	135310080	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	431751	135310080	23828583	866	135977											
CHRM2	1129	broad.mit.edu	37	chr7	136699678	136699678	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtccttataagacatttgaAgtggtgtttattgtcctggt	10	5	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:136699678A>T	uc003vtf.1	+	4	689	c.66A>T	c.(64-66)GAA>GAT	p.E22D	CHRM2_uc003vtg.1_Missense_Mutation_p.E22D|CHRM2_uc003vtj.1_Missense_Mutation_p.E22D|CHRM2_uc003vtk.1_Missense_Mutation_p.E22D|CHRM2_uc003vtl.1_Missense_Mutation_p.E22D|CHRM2_uc003vtm.1_Missense_Mutation_p.E22D|CHRM2_uc003vti.1_Missense_Mutation_p.E22D|CHRM2_uc003vto.1_Missense_Mutation_p.E22D|CHRM2_uc003vtn.1_Missense_Mutation_p.E22D|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	22	Extracellular (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	AGACATTTGAAGTGGTGTTTA	0.423													T	136699678	A	T	136699678	3	4	272	1	0	0	0	0	1	0	0	0	3377	69	3	5	68	5	CHRM2	7	136699678	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1389598	136699678	22438985	867	135978											
DGKI	9162	broad.mit.edu	37	chr7	137531226	137531226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtacgagacctgcttcCggaaagttaagttcctcagc	9	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:137531226C>T	uc003vtt.2	-	1	384	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	128					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			ovary(1)|kidney(1)|skin(1)	3						GACCTGCTTCCGGAAAGTTAA	0.597													T	137531226	C	T	137531226	3	4	272	1	0	0	0	0	1	0	0	0	4471	652	23	1	2950	1	DGKI	7	137531226	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	831548	137531226	21607437	868	135979											
TRIM24	8805	broad.mit.edu	37	chr7	138239681	138239681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccctagaatgcagggGcccatccagcaaccttccat	7	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:138239681G>A	uc003vuc.2	+	9	1715	c.1500G>A	c.(1498-1500)GGG>GGA	p.G500G	TRIM24_uc003vub.2_Intron	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	500					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			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						GAATGCAGGGGCCCATCCAGC	0.468													A	138239681	G	A	138239681	2	1	272	1	0	0	0	0	0	0	0	1	16495	1190	42	2		2	TRIM24	7	138239681	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	708455	138239681	20898982	869	135980											
SVOPL	136306	broad.mit.edu	37	chr7	138312134	138312134	+	Missense_Mutation	SNP	G	G	A													ggagaaggaagaataaagccGtgcatcccatggtaatagaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:138312134G>A	uc011kqh.1	-	11	1142	c.1142C>T	c.(1141-1143)ACG>ATG	p.T381M	SVOPL_uc003vue.2_Missense_Mutation_p.T229M	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	381						integral to membrane	transmembrane transporter activity				0						GAATAAAGCCGTGCATCCCAT	0.393													A	138312134	G	A	138312134	3	1	272	1	0	0	0	0	1	0	0	0	15421	1145	40	1	356	1	SVOPL	7	138312134	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	72453	138312134	20826529	870	135981	704	2									
SVOPL	136306	broad.mit.edu	37	chr7	138312137	138312137	+	Missense_Mutation	SNP	C	C	T													gaaggaagaataaagccgtgCatcccatggtaatagaaagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:138312137C>T	uc011kqh.1	-	11	1139	c.1139G>A	c.(1138-1140)TGC>TAC	p.C380Y	SVOPL_uc003vue.2_Missense_Mutation_p.C228Y	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	380						integral to membrane	transmembrane transporter activity				0						TAAAGCCGTGCATCCCATGGT	0.393													T	138312137	C	T	138312137	3	4	272	1	0	0	0	0	1	0	0	0	15421	710	25	2	359	2	SVOPL	7	138312137	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3	138312137	20826526	871	135982	704	2									
PARP12	64761	broad.mit.edu	37	chr7	139726084	139726084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaaatggcgctggtgcCgtggaacagctgccgctcgt	13	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:139726084C>T	uc003vvl.1	-	11	2567	c.1693G>A	c.(1693-1695)GGC>AGC	p.G565S	PARP12_uc003vvk.1_Missense_Mutation_p.G351S|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	565	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					GCGCTGGTGCCGTGGAACAGC	0.562													T	139726084	C	T	139726084	3	4	272	1	0	0	0	0	1	0	0	0	11457	652	23	1	420	1	PARP12	7	139726084	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1413947	139726084	19412579	872	135983											
JHDM1D	80853	broad.mit.edu	37	chr7	139797360	139797360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaccagtgcagtgcactcGggtccggagtcttctgactc	12	13	2	1	rs148957004	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:139797360G>A	uc003vvm.2	-	15	2005	c.2001C>T	c.(1999-2001)CCC>CCT	p.P667P	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	667					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					CAGTGCACTCGGGTCCGGAGT	0.453													A	139797360	G	A	139797360	2	1	272	1	0	0	0	0	0	0	0	1	7948	1103	39	1		1	JHDM1D	7	139797360	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	71276	139797360	19341303	873	135984											
SSBP1	6742	broad.mit.edu	37	chr7	141443388	141443388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtgtgcacttacttgggcGagtgggtcaggaccctgtct	14	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:141443388G>A	uc003vwo.1	+	4	191	c.113G>A	c.(112-114)CGA>CAA	p.R38Q	SSBP1_uc011kri.1_Missense_Mutation_p.R38Q|SSBP1_uc010lnp.1_Missense_Mutation_p.R38Q	NM_003143	NP_003134	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1 precursor	38	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			ovary(1)	1	Melanoma(164;0.0171)					TTACTTGGGCGAGTGGGTCAG	0.373													A	141443388	G	A	141443388	3	1	272	1	0	0	0	0	1	0	0	0	15178	1058	37	1	123	1	SSBP1	7	141443388	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1646028	141443388	17695275	874	135985											
OR6V1	346517	broad.mit.edu	37	chr7	142750155	142750155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggctttctccacttgcGggtctcacctcacactggtc	9	14	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:142750155G>A	uc011ksv.1	+	1	718	c.718G>A	c.(718-720)GGG>AGG	p.G240R		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					CTCCACTTGCGGGTCTCACCT	0.557													A	142750155	G	A	142750155	3	1	272	1	0	0	0	0	1	0	0	0	11211	1116	39	1	720	1	OR6V1	7	142750155	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1306767	142750155	16388508	875	135986											
ZNF786	136051	broad.mit.edu	37	chr7	148767797	148767797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgatggctgagcagctgCgccttcaggcggaaactctt	12	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:148767797C>T	uc003wfh.2	-	4	2204	c.2067G>A	c.(2065-2067)GCG>GCA	p.A689A	ZNF786_uc011kuk.1_Silent_p.A652A|ZNF786_uc003wfi.2_Silent_p.A603A	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	689	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGAGCAGCTGCGCCTTCAGGC	0.557													T	148767797	C	T	148767797	2	4	272	1	0	0	0	0	0	0	0	1	18155	755	27	1		1	ZNF786	7	148767797	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6017642	148767797	10370866	876	135987											
ZNF777	27153	broad.mit.edu	37	chr7	149152575	149152575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcgggtgatctctgccGtggggagcggctgttccttc	15	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:149152575G>A	uc003wfv.2	-	2	702	c.539C>T	c.(538-540)ACG>ATG	p.T180M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GATCTCTGCCGTGGGGAGCGG	0.627													A	149152575	G	A	149152575	3	1	272	1	0	0	0	0	1	0	0	0	18147	1145	40	1	1976	1	ZNF777	7	149152575	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	384778	149152575	9986088	877	135988											
SSPO	23145	broad.mit.edu	37	chr7	149522173	149522173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggctgccgggagccaTgggctcaagacagaaagctg	17	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:149522173T>C	uc010lpk.2	+	97	13960	c.13960T>C	c.(13960-13962)TGG>CGG	p.W4654R	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4654	TSP type-1 23.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGGAGCCATGGGCTCAAGA	0.652													C	149522173	T	C	149522173	3	2	272	1	0	0	0	0	1	0	0	0	15188	1464	51	3	14336	3	SSPO	7	149522173	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	369598	149522173	9616490	878	135989											
GIMAP8	155038	broad.mit.edu	37	chr7	150164369	150164369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttgagtctttggtgaatAcgaacggaggaccctatcat	12	7	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150164369A>G	uc003whj.2	+	2	913	c.583A>G	c.(583-585)ACG>GCG	p.T195A		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	195						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTTGGTGAATACGAACGGAGG	0.423													G	150164369	A	G	150164369	3	3	272	1	0	0	0	0	1	0	0	0	6385	391	14	3	585	3	GIMAP8	7	150164369	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	642196	150164369	8974294	879	135990											
ATG9B	285973	broad.mit.edu	37	chr7	150714250	150714250	+	Frame_Shift_Del	DEL	G	G	-													gaaacttagagctgtgccctGgggggcgccagagtggatgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150714249_150714249TG>T	uc011kvc.2	-	8	2239	c.2163_2163CA>A	c.(2161-2163)ccafs	p.P721fs	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	721					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)		AGCTGTGCCCTGGGGGGCGCC	0.662													-	150714250	G	-	150714250	7	5	272	1	0	1	0	1	0	0	0	0	1103	1348	47	0	631	0	ATG9B	7	150714250	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	549881	150714250	8424413	880	135991											
ASB10	136371	broad.mit.edu	37	chr7	150878203	150878203	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggacaggagcagctccacGacagctgcatggccacggcg	14	14	0	0	rs144099189		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150878203G>A	uc003wjm.1	-	3	1188	c.1062C>T	c.(1060-1062)GTC>GTT	p.V354V	ASB10_uc003wjl.1_Silent_p.V354V|ASB10_uc003wjn.1_Silent_p.V294V	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	309	ANK 6.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCTCCACGACAGCTGCAT	0.657													A	150878203	G	A	150878203	2	1	272	1	0	0	0	0	0	0	0	1	1014	1045	37	1		1	ASB10	7	150878203	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	163953	150878203	8260460	881	135992											
CHPF2	54480	broad.mit.edu	37	chr7	150935383	150935384	+	Frame_Shift_Ins	INS	-	-	C													ccccgggggctggccctgacINScccccctcccctcctggtgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150935382_150935383A>AC	uc003wjr.1	+	3	3447_3448	c.1934_1935A>AC	c.(1933-1935)gacfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.D637fs|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	645	Gly/Pro-rich.					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						GCTGGCCCTGACCCCCCCTCCC	0.649													C	150935384	-	C	150935383	7	5	272	1	0	1	1	0	0	0	0	0	3369	506	18	0	1949	0	CHPF2	7	150935383	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	57180	150935383	8203280	882	135993											
PAXIP1	22976	broad.mit.edu	37	chr7	154767562	154767562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaaattaccccggacctcAgggggcaaaatgttacctgg	10	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:154767562A>G	uc003wlp.2	-	6	961	c.918T>C	c.(916-918)CCT>CCC	p.P306P	PAXIP1_uc003wlq.1_Silent_p.P272P|PAXIP1_uc011kvs.1_Silent_p.P270P|PAXIP1_uc003wlr.1_Silent_p.P215P	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	306					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				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	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)		CCCGGACCTCAGGGGGCAAAA	0.512													G	154767562	A	G	154767562	2	3	272	1	0	0	0	0	0	0	0	1	11487	175	7	3		3	PAXIP1	7	154767562	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3832179	154767562	4371101	883	135994											
HTR5A	3361	broad.mit.edu	37	chr7	154862882	154862882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggatgtcctggtggccgcGctggtcatgccgctgagcct	15	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:154862882G>A	uc003wlu.1	+	1	337	c.273G>A	c.(271-273)GCG>GCA	p.A91A	uc011kvt.1_Silent_p.S44S|uc003wlt.2_Silent_p.S44S	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	91	Helical; Name=2; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	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)		TGGTGGCCGCGCTGGTCATGC	0.672													A	154862882	G	A	154862882	2	1	272	1	0	0	0	0	0	0	0	1	7450	1074	38	1		1	HTR5A	7	154862882	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	95320	154862882	4275781	884	135995											
RBM33	155435	broad.mit.edu	37	chr7	155504033	155504033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagggaatgcacatgcCtccccagctagagaccccaa	9	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:155504033C>A	uc010lqk.1	+	8	1453	c.1085C>A	c.(1084-1086)CCT>CAT	p.P362H	RBM33_uc011kvv.1_Missense_Mutation_p.P171H	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	362	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	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)		ATGCACATGCCTCCCCAGCTA	0.632													A	155504033	C	A	155504033	3	1	272	1	0	0	0	0	1	0	0	0	13130	681	24	5	1115	5	RBM33	7	155504033	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	641151	155504033	3634630	885	135996											
WDR60	55112	broad.mit.edu	37	chr7	158738439	158738439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctgcttttgcaggaagCcctgtggccagagggaaaac	14	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:158738439C>A	uc003woe.3	+	25	3328	c.3170C>A	c.(3169-3171)GCC>GAC	p.A1057D	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.A689D	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1057										ovary(2)|breast(1)|central_nervous_system(1)	4	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)		TTGCAGGAAGCCCTGTGGCCA	0.572													A	158738439	C	A	158738439	3	1	272	1	0	0	0	0	1	0	0	0	17308	739	26	5	3268	5	WDR60	7	158738439	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3234406	158738439	400224	886	135997											
MYOM2	9172	broad.mit.edu	37	chr8	2040189	2040189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagttgtcccttctgctcCgggtcgggttcttgcttccc	10	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:2040189C>T	uc003wpx.3	+	16	1982	c.1844C>T	c.(1843-1845)CCG>CTG	p.P615L	MYOM2_uc011kwi.1_Missense_Mutation_p.P40L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	615	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		CCTTCTGCTCCGGGTCGGGTT	0.557													T	2040189	C	T	2040189	3	4	272	1	0	0	0	0	1	0	0	0	10092	652	23	1	1902	1	MYOM2	8	2040189	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		2040189	144323833	887	135998											
CSMD1	64478	broad.mit.edu	37	chr8	3889462	3889462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaagtcccacgatgcaCcatttcctgggctgacgatg	12	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:3889462C>T	uc011kwk.1	-	4	965	c.575G>A	c.(574-576)GGT>GAT	p.G192D		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	192	Extracellular (Potential).|Sushi 1.					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)		CCACGATGCACCATTTCCTGG	0.552													T	3889462	C	T	3889462	3	4	272	1	0	0	0	0	1	0	0	0	3944	507	18	4	10200	4	CSMD1	8	3889462	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1849273	3889462	142474560	888	135999											
DEFA4	1669	broad.mit.edu	37	chr8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaacgttaatcgacacGcgtgcagcagtatgtgaaac	11	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:6793553G>A	uc003wqu.1	-	3	334	c.283C>T	c.(283-285)CGT>TGT	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507													A	6793553	G	A	6793553	3	1	272	1	0	0	0	0	1	0	0	0	4391	1087	38	1	14	1	DEFA4	8	6793553	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2904091	6793553	139570469	889	136000											
MFHAS1	9258	broad.mit.edu	37	chr8	8749154	8749154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagtcatacacgatgaacCgcaggccccgggaggcatcg	12	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:8749154C>T	uc003wsj.1	-	1	1978	c.1415G>A	c.(1414-1416)CGG>CAG	p.R472Q		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	472	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CACGATGAACCGCAGGCCCCG	0.612													T	8749154	C	T	8749154	3	4	272	1	0	0	0	0	1	0	0	0	9521	652	23	1	1755	1	MFHAS1	8	8749154	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1955601	8749154	137614868	890	136001											
MTMR9	66036	broad.mit.edu	37	chr8	11157581	11157581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaccctttcttttaccGtcctatgtttgaagtgatag	8	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:11157581G>A	uc003wtm.2	+	3	739	c.341G>A	c.(340-342)CGT>CAT	p.R114H	MTMR9_uc010lrx.2_Missense_Mutation_p.R7H|MTMR9_uc011kxa.1_Missense_Mutation_p.R29H	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	114						cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TTCTTTTACCGTCCTATGTTT	0.408													A	11157581	G	A	11157581	3	1	272	1	0	0	0	0	1	0	0	0	9950	1145	40	1	351	1	MTMR9	8	11157581	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2408427	11157581	135206441	891	136002											
GATA4	2626	broad.mit.edu	37	chr8	11565838	11565838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatgtatcagagcttggCcatggccgccaaccacgggc	12	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:11565838C>T	uc003wuc.2	+	2	571	c.17C>T	c.(16-18)GCC>GTC	p.A6V	GATA4_uc011kxb.1_Missense_Mutation_p.A6V|GATA4_uc003wub.1_Intron|GATA4_uc010lrz.1_Missense_Mutation_p.A6V|GATA4_uc011kxc.1_Missense_Mutation_p.A6V	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	6					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAGAGCTTGGCCATGGCCGCC	0.706													T	11565838	C	T	11565838	3	4	272	1	0	0	0	0	1	0	0	0	6256	739	26	2	19	2	GATA4	8	11565838	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	408257	11565838	134798184	892	136003											
C8orf79	57604	broad.mit.edu	37	chr8	12863855	12863855	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaagccaggcagcctcatCgctgacataggtaaccaggc	11	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:12863855C>T	uc010lsq.2	+	3	636	c.144C>T	c.(142-144)ATC>ATT	p.I48I	C8orf79_uc011kxw.1_Silent_p.I48I	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	48							methyltransferase activity				0						GCAGCCTCATCGCTGACATAG	0.567													T	12863855	C	T	12863855	2	4	272	1	0	0	0	0	0	0	0	1	2438	874	31	1		1	C8orf79	8	12863855	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1298017	12863855	133500167	893	136004											
DLC1	10395	broad.mit.edu	37	chr8	12956932	12956932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagggctcttccggttcatTcagggagttgcctgtgctgt	15	9	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:12956932T>C	uc003wwm.2	-	9	3358	c.2914A>G	c.(2914-2916)AAT>GAT	p.N972D	DLC1_uc003wwk.1_Missense_Mutation_p.N535D|DLC1_uc003wwl.1_Missense_Mutation_p.N569D|DLC1_uc011kxx.1_Missense_Mutation_p.N461D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	972					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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCCGGTTCATTCAGGGAGTTG	0.577													C	12956932	T	C	12956932	3	2	272	1	0	0	0	0	1	0	0	0	4550	1783	62	3	1712	3	DLC1	8	12956932	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	93077	12956932	133407090	894	136005											
MTMR7	9108	broad.mit.edu	37	chr8	17188712	17188712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggatgttctctatcccgAtaaactgaaacttgatattg	7	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:17188712A>G	uc003wxm.2	-	7	1051	c.812T>C	c.(811-813)ATC>ACC	p.I271T	MTMR7_uc003wxn.2_Missense_Mutation_p.I50T	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	271	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CTCTATCCCGATAAACTGAAA	0.393													G	17188712	A	G	17188712	3	3	272	1	0	0	0	0	1	0	0	0	9948	333	12	3	1202	3	MTMR7	8	17188712	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4231780	17188712	129175310	895	136006											
INTS10	55174	broad.mit.edu	37	chr8	19684046	19684046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccataaaaagaggaaactAgctgaaggaagagaaaaaac	9	5	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:19684046A>G	uc003wzj.2	+	9	1247	c.1116A>G	c.(1114-1116)CTA>CTG	p.L372L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	372					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGAGGAAACTAGCTGAAGGAA	0.373													G	19684046	A	G	19684046	2	3	272	1	0	0	0	0	0	0	0	1	7776	407	15	3		3	INTS10	8	19684046	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2495334	19684046	126679976	896	136007											
GFRA2	2675	broad.mit.edu	37	chr8	21560457	21560457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttggggacacgttcacgtCcgtgccgttgccaaaggcct	12	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:21560457C>T	uc003wzu.1	-	7	1753	c.1078G>A	c.(1078-1080)GAC>AAC	p.D360N	GFRA2_uc003wzv.1_Missense_Mutation_p.D255N|GFRA2_uc003wzw.1_Missense_Mutation_p.D227N	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	360						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACGTTCACGTCCGTGCCGTTG	0.622													T	21560457	C	T	21560457	3	4	272	1	0	0	0	0	1	0	0	0	6348	855	30	4	328	4	GFRA2	8	21560457	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1876411	21560457	124803565	897	136008											
EGR3	1960	broad.mit.edu	37	chr8	22548299	22548299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgaacggctgaaacggCggtcgcagccctcggccggg	16	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:22548299C>T	uc003xcm.1	-	2	1209	c.851G>A	c.(850-852)CGC>CAC	p.R284H	EGR3_uc011kzn.1_Missense_Mutation_p.R246H|EGR3_uc011kzo.1_Missense_Mutation_p.R230H	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	284	C2H2-type 1.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTGAAACGGCGGTCGCAGCC	0.697													T	22548299	C	T	22548299	3	4	272	1	0	0	0	0	1	0	0	0	4973	768	27	1	316	1	EGR3	8	22548299	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	987842	22548299	123815723	898	136009											
ENTPD4	9583	broad.mit.edu	37	chr8	23290492	23290492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcctccatccagagggCggcggccgagctgctccggg	15	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:23290492C>T	uc003xdl.2	-	13	1962	c.1798G>A	c.(1798-1800)GCC>ACC	p.A600T	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Missense_Mutation_p.A592T	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	600	Cytoplasmic (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATCCAGAGGGCGGCGGCCGAG	0.642													T	23290492	C	T	23290492	3	4	272	1	0	0	0	0	1	0	0	0	5141	768	27	1	56	1	ENTPD4	8	23290492	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	742193	23290492	123073530	899	136010											
ADAM7	8756	broad.mit.edu	37	chr8	24349444	24349444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtccatatgcagacCggcgaaagatgaatgtgatt	13	7	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24349444C>T	uc003xeb.2	+	14	1498	c.1385C>T	c.(1384-1386)CCG>CTG	p.P462L	ADAM7_uc003xec.2_Missense_Mutation_p.P234L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	462	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATATGCAGACCGGCGAAAGAT	0.438													T	24349444	C	T	24349444	3	4	272	1	0	0	0	0	1	0	0	0	251	652	23	1	1439	1	ADAM7	8	24349444	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1058952	24349444	122014578	900	136011											
NEFM	4741	broad.mit.edu	37	chr8	24771390	24771390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcttcagccgcgtcagCggctccccgtccagtggctt	12	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24771390C>A	uc003xed.3	+	1	117	c.84C>A	c.(82-84)AGC>AGA	p.S28R	NEFM_uc011lac.1_Missense_Mutation_p.S28R|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	28	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		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)		GCCGCGTCAGCGGCTCCCCGT	0.697													A	24771390	C	A	24771390	3	1	272	1	0	0	0	0	1	0	0	0	10316	767	27	5	86	5	NEFM	8	24771390	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	421946	24771390	121592632	901	136012											
NEFL	4747	broad.mit.edu	37	chr8	24813101	24813101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcttggccttgagcagaCgacggctctcggacacctcg	14	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24813101C>T	uc003xee.2	-	1	1031	c.929G>A	c.(928-930)CGT>CAT	p.R310H		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	310	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTTGAGCAGACGACGGCTCTC	0.632													T	24813101	C	T	24813101	3	4	272	1	0	0	0	0	1	0	0	0	10315	536	19	1	719	1	NEFL	8	24813101	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	41711	24813101	121550921	902	136013											
NEFL	4747	broad.mit.edu	37	chr8	24813732	24813732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgatgaagctggcgaagcGgtcattgaggtcctggagct	15	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24813732G>A	uc003xee.2	-	1	400	c.298C>T	c.(298-300)CGC>TGC	p.R100C		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	100	Rod.|Coil 1A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGGCGAAGCGGTCATTGAGG	0.627													A	24813732	G	A	24813732	3	1	272	1	0	0	0	0	1	0	0	0	10315	1116	39	1	1350	1	NEFL	8	24813732	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	631	24813732	121550290	903	136014											
CDCA2	157313	broad.mit.edu	37	chr8	25323825	25323825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggcaggaaaagagtcCgagatgacagacttgagtga	14	6	1	7			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:25323825C>T	uc003xep.1	+	5	1001	c.522C>T	c.(520-522)TCC>TCT	p.S174S	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.S174S|CDCA2_uc003xeq.1_Silent_p.S159S|CDCA2_uc003xer.1_5'Flank	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	174					cell division|mitosis	cytoplasm|nucleus					0		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)		GAAAAGAGTCCGAGATGACAG	0.383													T	25323825	C	T	25323825	2	4	272	1	0	0	0	0	0	0	0	1	3086	639	23	1		1	CDCA2	8	25323825	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	510093	25323825	121040197	904	136015											
EBF2	64641	broad.mit.edu	37	chr8	25902265	25902265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcgcggcgacattagcGtccaccactccgacattccg	9	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:25902265G>A	uc003xes.1	-	1	128	c.111C>T	c.(109-111)GAC>GAT	p.D37D	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Silent_p.D37D	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	37					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		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)		CGACATTAGCGTCCACCACTC	0.577													A	25902265	G	A	25902265	2	1	272	1	0	0	0	0	0	0	0	1	4881	1136	40	1		1	EBF2	8	25902265	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	578440	25902265	120461757	905	136016											
ESCO2	157570	broad.mit.edu	37	chr8	27634065	27634065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcaccatttaaatctgcGctctccactgtatcttttta	5	12	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:27634065G>A	uc003xgg.2	+	3	323	c.240G>A	c.(238-240)GCG>GCA	p.A80A	ESCO2_uc010luy.1_RNA|ESCO2_uc003xgh.2_Silent_p.A80A	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	80					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		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)		TTAAATCTGCGCTCTCCACTG	0.373									SC_Phocomelia_syndrome				A	27634065	G	A	27634065	2	1	272	1	0	0	0	0	0	0	0	1	5249	1074	38	1		1	ESCO2	8	27634065	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1731800	27634065	118729957	906	136017											
ZNF395	55893	broad.mit.edu	37	chr8	28206714	28206714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggtgctggctgctggGgctcgctgaagcttagcgac	16	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:28206714G>T	uc003xgq.2	-	9	1446	c.1358C>A	c.(1357-1359)CCC>CAC	p.P453H	ZNF395_uc003xgt.2_Missense_Mutation_p.P453H|ZNF395_uc003xgr.2_Missense_Mutation_p.P453H|ZNF395_uc003xgs.2_Missense_Mutation_p.P453H	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	453					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGGCTGCTGGGGCTCGCTGAA	0.617													T	28206714	G	T	28206714	3	4	272	1	0	0	0	0	1	0	0	0	17878	1232	43	5	191	5	ZNF395	8	28206714	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	572649	28206714	118157308	907	136018											
ADRB3	155	broad.mit.edu	37	chr8	37823754	37823754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtcggctgcggccagCgaagtcacgaacacgttggt	14	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:37823754C>T	uc003xkr.1	-	1	431	c.234G>A	c.(232-234)TCG>TCA	p.S78S		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	78	Helical; Name=2; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CTGCGGCCAGCGAAGTCACGA	0.692													T	37823754	C	T	37823754	2	4	272	1	0	0	0	0	0	0	0	1	342	755	27	1		1	ADRB3	8	37823754	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	9617040	37823754	108540268	908	136019											
PLEKHA2	59339	broad.mit.edu	37	chr8	38793535	38793535	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaatgggggcaggagcTgttggagctttgcagctgac	17	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:38793535T>C	uc003xmi.3	+	3	399	c.165T>C	c.(163-165)GCT>GCC	p.A55A	PLEKHA2_uc011lce.1_Silent_p.A5A	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	55	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGGCAGGAGCTGTTGGAGCTT	0.348													C	38793535	T	C	38793535	2	2	272	1	0	0	0	0	0	0	0	1	12056	1567	55	3		3	PLEKHA2	8	38793535	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	969781	38793535	107570487	909	136020											
SFRP1	6422	broad.mit.edu	37	chr8	41166309	41166309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacacgggtagatgggccGgtccaggcagacgggcgcga	19	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:41166309G>A	uc003xnt.2	-	1	672	c.370C>T	c.(370-372)CGG>TGG	p.R124W		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	124	FZ.				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			central_nervous_system(1)	1	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)			TAGATGGGCCGGTCCAGGCAG	0.657													A	41166309	G	A	41166309	3	1	272	1	0	0	0	0	1	0	0	0	14161	1115	39	1	586	1	SFRP1	8	41166309	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2372774	41166309	105197713	910	136021											
GINS4	84296	broad.mit.edu	37	chr8	41397521	41397521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtggacctctttcgggCaggtaaacaggacgttctcc	13	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:41397521C>T	uc003xnx.2	+	6	692	c.482C>T	c.(481-483)GCA>GTA	p.A161V	GINS4_uc003xny.2_Missense_Mutation_p.A161V	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4	161					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				skin(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTCTTTCGGGCAGGTAAACAG	0.493													T	41397521	C	T	41397521	3	4	272	1	0	0	0	0	1	0	0	0	6390	710	25	2	500	2	GINS4	8	41397521	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	231212	41397521	104966501	911	136022											
SLC20A2	6575	broad.mit.edu	37	chr8	42294538	42294538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgtgagcaaaggaccCgaaacaggcggtgaggacct	15	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:42294538C>T	uc010lxl.2	-	8	2186	c.1492G>A	c.(1492-1494)GGG>AGG	p.G498R	SLC20A2_uc010lxm.2_Missense_Mutation_p.G498R|SLC20A2_uc003xpe.2_Missense_Mutation_p.G498R|SLC20A2_uc011lcu.1_Missense_Mutation_p.G300R	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	498	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCAAAGGACCCGAAACAGGCG	0.612													T	42294538	C	T	42294538	3	4	272	1	0	0	0	0	1	0	0	0	14439	652	23	1	482	1	SLC20A2	8	42294538	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	897017	42294538	104069484	912	136023											
SGK196	84197	broad.mit.edu	37	chr8	42977374	42977374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggcacacatgttgtcaCgctgcttggctattgtgagg	12	10	1	1	rs138216719		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:42977374C>T	uc003xpw.2	+	5	666	c.407C>T	c.(406-408)ACG>ATG	p.T136M		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	136	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0						CATGTTGTCACGCTGCTTGGC	0.453													T	42977374	C	T	42977374	3	4	272	1	0	0	0	0	1	0	0	0	14208	536	19	1	413	1	SGK196	8	42977374	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	682836	42977374	103386648	913	136024											
PRKDC	5591	broad.mit.edu	37	chr8	48746918	48746918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtcgaccagcgggtcaGtgctgctcccggtcagccaa	14	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:48746918G>A	uc003xqi.2	-	60	8048	c.7991C>T	c.(7990-7992)ACT>ATT	p.T2664I	PRKDC_uc003xqj.2_Missense_Mutation_p.T2664I|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2664	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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAGCGGGTCAGTGCTGCTCCC	0.562								NHEJ					A	48746918	G	A	48746918	3	1	272	1	0	0	0	0	1	0	0	0	12521	1029	36	4	4507	4	PRKDC	8	48746918	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5769544	48746918	97617104	914	136025											
PXDNL	137902	broad.mit.edu	37	chr8	52384839	52384839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtacctccacatcctgCggctcaaaagtaattcgggg	11	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:52384839C>T	uc003xqu.3	-	8	821	c.720G>A	c.(718-720)CCG>CCA	p.P240P		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	240	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCACATCCTGCGGCTCAAAAG	0.423													T	52384839	C	T	52384839	2	4	272	1	0	0	0	0	0	0	0	1	12848	755	27	1		1	PXDNL	8	52384839	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3637921	52384839	93979183	915	136026											
NPBWR1	2831	broad.mit.edu	37	chr8	53853402	53853402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctacgccttcctggacgCcagcttccgcaggaacctcc	8	19	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:53853402C>T	uc011ldu.1	+	1	935	c.935C>T	c.(934-936)GCC>GTC	p.A312V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	312	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTCCTGGACGCCAGCTTCCGC	0.657													T	53853402	C	T	53853402	3	4	272	1	0	0	0	0	1	0	0	0	10568	739	26	2	937	2	NPBWR1	8	53853402	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1468563	53853402	92510620	916	136027											
OPRK1	4986	broad.mit.edu	37	chr8	54147537	54147537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggaaattactatcttgCacagcacatccccaaaaggc	6	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:54147537C>T	uc003xrh.1	-	2	767	c.392G>A	c.(391-393)TGC>TAC	p.C131Y	OPRK1_uc003xri.1_Missense_Mutation_p.C131Y|OPRK1_uc010lyc.1_Missense_Mutation_p.C42Y	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	131	Extracellular (Potential).				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			ovary(1)|skin(1)	2		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)	TACTATCTTGCACAGCACATC	0.463													T	54147537	C	T	54147537	3	4	272	1	0	0	0	0	1	0	0	0	10885	710	25	2	758	2	OPRK1	8	54147537	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	294135	54147537	92216485	917	136028											
SOX17	64321	broad.mit.edu	37	chr8	55372288	55372288	+	Frame_Shift_Del	DEL	C	C	-													cagcaccagcaccagcaccaCcccccgggccccggacagcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:55372288delC	uc003xsb.3	+	2	1182	c.978delC	c.(976-978)CACfs	p.H326fs		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	326	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			accagcaccaCCCCCCGGGCC	0.532													-	55372288	C	-	55372288	7	5	272	1	0	1	0	1	0	0	0	0	14947	506	18	0	984	0	SOX17	8	55372288	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1224751	55372288	90991734	918	136029											
MOS	4342	broad.mit.edu	37	chr8	57026480	57026480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggactgctgcagggccgcGcgtccaccgatggggaaaac	16	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:57026480G>A	uc011leb.1	-	1	62	c.62C>T	c.(61-63)GCG>GTG	p.A21V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	21							ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGGGCCGCGCGTCCACCGA	0.706													A	57026480	G	A	57026480	3	1	272	1	0	0	0	0	1	0	0	0	9712	1087	38	1	981	1	MOS	8	57026480	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1654192	57026480	89337542	919	136030											
CHD7	55636	broad.mit.edu	37	chr8	61743069	61743069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcggtggtcaagctaaCgtacctaacctattaaacac	8	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61743069C>T	uc003xue.2	+	15	4188	c.3711C>T	c.(3709-3711)AAC>AAT	p.N1237N		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1237					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GTCAAGCTAACGTACCTAACC	0.413													T	61743069	C	T	61743069	2	4	272	1	0	0	0	0	0	0	0	1	3330	535	19	1		1	CHD7	8	61743069	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4716589	61743069	84620953	920	136031											
CHD7	55636	broad.mit.edu	37	chr8	61748719	61748719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcaatgatccaggctgCtggcaagctagtgctgattg	13	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61748719C>T	uc003xue.2	+	16	4343	c.3866C>T	c.(3865-3867)GCT>GTT	p.A1289V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1289					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			ATCCAGGCTGCTGGCAAGCTA	0.488													T	61748719	C	T	61748719	3	4	272	1	0	0	0	0	1	0	0	0	3330	797	28	2	3924	2	CHD7	8	61748719	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5650	61748719	84615303	921	136032											
CHD7	55636	broad.mit.edu	37	chr8	61749516	61749516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaggcattaacctcactgCtgctgatacctgcatcatct	6	12	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61749516C>T	uc003xue.2	+	17	4607	c.4130C>T	c.(4129-4131)GCT>GTT	p.A1377V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1377	Helicase C-terminal.				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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			AACCTCACTGCTGCTGATACC	0.453													T	61749516	C	T	61749516	3	4	272	1	0	0	0	0	1	0	0	0	3330	797	28	2	4192	2	CHD7	8	61749516	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	797	61749516	84614506	922	136033											
CHD7	55636	broad.mit.edu	37	chr8	61777588	61777588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccagggttttgttcctgAgtcgatgtttgaccgccttc	10	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61777588A>G	uc003xue.2	+	38	8567	c.8090A>G	c.(8089-8091)GAG>GGG	p.E2697G		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2697					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			TTTGTTCCTGAGTCGATGTTT	0.552													G	61777588	A	G	61777588	3	3	272	1	0	0	0	0	1	0	0	0	3330	304	11	3	8236	3	CHD7	8	61777588	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	28072	61777588	84586434	923	136034											
ASPH	444	broad.mit.edu	37	chr8	62475336	62475336	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgcattgtcattatcTcctatcaagaggtatcccac	5	11	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:62475336T>C	uc003xuj.2	-	18	1673	c.1404A>G	c.(1402-1404)GGA>GGG	p.G468G	ASPH_uc011leg.1_Silent_p.G439G|ASPH_uc003xuo.2_Silent_p.G449G	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	468	TPR 2.|Lumenal (Potential).				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			ovary(3)	3	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)	TGTCATTATCTCCTATCAAGA	0.348													C	62475336	T	C	62475336	2	2	272	1	0	0	0	0	0	0	0	1	1053	1538	54	3		3	ASPH	8	62475336	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	697748	62475336	83888686	924	136035											
MTFR1	9650	broad.mit.edu	37	chr8	66582207	66582207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcttggctggattaagcGcctaattaggatggtttttc	11	6	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:66582207G>A	uc003xvm.2	+	2	232	c.20G>A	c.(19-21)CGC>CAC	p.R7H	MTFR1_uc011lep.1_Missense_Mutation_p.R7H|MTFR1_uc003xvn.2_Missense_Mutation_p.R7H|MTFR1_uc003xvo.1_5'UTR	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	7						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGGATTAAGCGCCTAATTAGG	0.368													A	66582207	G	A	66582207	3	1	272	1	0	0	0	0	1	0	0	0	9925	1087	38	1	22	1	MTFR1	8	66582207	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4106871	66582207	79781815	925	136036											
C8orf34	116328	broad.mit.edu	37	chr8	69552649	69552649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatggagggagtaacaaccCtggtaccttctgggagcaaa	13	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:69552649C>T	uc010lyz.2	+	8	935	c.886C>T	c.(886-888)CTG>TTG	p.L296L	C8orf34_uc003xyb.2_Silent_p.L271L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	296					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGTAACAACCCTGGTACCTTC	0.418													T	69552649	C	T	69552649	2	4	272	1	0	0	0	0	0	0	0	1	2422	680	24	4		4	C8orf34	8	69552649	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2970442	69552649	76811373	926	136037											
SULF1	23213	broad.mit.edu	37	chr8	70540063	70540063	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagtgagaggacatctgaaGagaaggaagcctgaggaatg	16	4	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:70540063G>T	uc010lza.1	+	17	2721	c.2004G>T	c.(2002-2004)AAG>AAT	p.K668N	SULF1_uc003xyd.2_Missense_Mutation_p.K668N|SULF1_uc003xye.2_Missense_Mutation_p.K668N|SULF1_uc003xyf.2_Missense_Mutation_p.K668N|SULF1_uc003xyg.2_Missense_Mutation_p.K668N|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	668					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GACATCTGAAGAGAAGGAAGC	0.398													T	70540063	G	T	70540063	3	4	272	1	0	0	0	0	1	0	0	0	15369	933	33	5	2054	5	SULF1	8	70540063	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	987414	70540063	75823959	927	136038											
TRPA1	8989	broad.mit.edu	37	chr8	72948624	72948624	+	Frame_Shift_Del	DEL	A	A	-													tcaacaaacaagggcagcacAaaaatgatgcccgtcgtgta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:72948623_72948623CA>C	uc003xza.3	-	20	2630	c.2455_2455TG>G	c.(2455-2457)gtgfs	p.V819fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	819						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)	AAGGGCAGCACAAAAATGATG	0.348													-	72948624	A	-	72948624	7	5	272	1	0	1	0	1	0	0	0	0	16574	127	5	0	933	0	TRPA1	8	72948624	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2408561	72948624	73415398	928	136039											
TRPA1	8989	broad.mit.edu	37	chr8	72968076	72968077	+	Frame_Shift_Del	DEL	TT	TT	-													tcttcatccattaccagctcTttgatctgttgcatctatag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:72968075_72968076CTT>C	uc003xza.3	-	10	1384_1385	c.1209_1210AAG>G	c.(1207-1212)aaagagfs	p.K403fs	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	403						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)	ATTACCAGCTCTTTGATCTGTT	0.351													-	72968077	TT	-	72968076	7	5	272	1	0	1	0	1	0	0	0	0	16574	1606	56	0	2218	0	TRPA1	8	72968076	Frame_Shift_Del	DEL	TT	TCGA-HU-A4GQ-01A-11D-A25D-08	19452	72968076	73395946	929	136040											
STAU2	27067	broad.mit.edu	37	chr8	74526053	74526053	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggtggaagtttttTaagctcctgtaagacggtgg	15	4	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:74526053T>A	uc003xzm.2	-	9	1053	c.817A>T	c.(817-819)AAA>TAA	p.K273*	STAU2_uc011lfg.1_Nonsense_Mutation_p.K101*|STAU2_uc003xzn.2_Nonsense_Mutation_p.K241*|STAU2_uc011lfh.1_Nonsense_Mutation_p.K169*|STAU2_uc003xzo.2_Nonsense_Mutation_p.K273*|STAU2_uc003xzp.2_Nonsense_Mutation_p.K241*|STAU2_uc011lfi.1_Nonsense_Mutation_p.K235*|STAU2_uc003xzq.2_Nonsense_Mutation_p.K53*|STAU2_uc010lzk.2_Nonsense_Mutation_p.K241*|STAU2_uc010lzl.1_Nonsense_Mutation_p.K101*	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	273	DRBM 3.|Nuclear localization signal 1 (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GGAAGTTTTTTAAGCTCCTGT	0.403													A	74526053	T	A	74526053	4	1	272	1	0	0	0	0	0	1	0	0	15272	1763	61	5	1047	5	STAU2	8	74526053	Nonsense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1557977	74526053	71837969	930	136041											
RALYL	138046	broad.mit.edu	37	chr8	85441711	85441711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaaaaatagttggatgttCcgttcacaaaggttatgcat	10	5	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:85441711C>T	uc003ycq.3	+	3	571	c.155C>T	c.(154-156)TCC>TTC	p.S52F	RALYL_uc003ycr.3_Missense_Mutation_p.S52F|RALYL_uc003ycs.3_Missense_Mutation_p.S52F|RALYL_uc010lzy.2_Missense_Mutation_p.S52F|RALYL_uc003yct.3_Missense_Mutation_p.S65F	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	52	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						GTTGGATGTTCCGTTCACAAA	0.428													T	85441711	C	T	85441711	3	4	272	1	0	0	0	0	1	0	0	0	13020	855	30	4	200	4	RALYL	8	85441711	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	10915658	85441711	60922311	931	136042											
CA3	761	broad.mit.edu	37	chr8	86354377	86354377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctcttcggatgatcAtggctctgagcacaccgtgg	14	11	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:86354377A>G	uc003ydj.2	+	3	391	c.308A>G	c.(307-309)CAT>CGT	p.H103R	CA3_uc011lfv.1_Intron	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	103					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						TCGGATGATCATGGCTCTGAG	0.502													G	86354377	A	G	86354377	3	3	272	1	0	0	0	0	1	0	0	0	2517	217	8	3	318	3	CA3	8	86354377	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	912666	86354377	60009645	932	136043											
NBN	4683	broad.mit.edu	37	chr8	90965666	90965666	+	Frame_Shift_Del	DEL	T	T	-													ggccacatcatccatttcccTttttttatttgatcttagct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:90965665_90965665CT>C	uc003yej.1	-	10	1762	c.1652_1652AG>G	c.(1651-1653)aggfs	p.R551fs	NBN_uc011lgb.1_Frame_Shift_Del_p.R551fs|NBN_uc003yei.1_Frame_Shift_Del_p.R469fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	551					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|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			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)			ATCCATTTCCCTTTTTTTATT	0.323								Homologous recombination					-	90965666	T	-	90965666	7	5	272	1	0	1	0	1	0	0	0	0	10191	1608	56	0	637	0	NBN	8	90965666	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	4611289	90965666	55398356	933	136044											
NBN	4683	broad.mit.edu	37	chr8	90967512	90967512	+	Splice_Site	DEL	T	T	-													gaagttatcaaaaacagaccTttttttggtagacggctgaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:90967511_90967511CT>C	uc003yej.1	-	10	1507	c.1397_splice	c.e10+1	p.R466_splice	NBN_uc011lgb.1_Splice_Site_p.R466_splice|NBN_uc003yei.1_Splice_Site_p.R384_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	466					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|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			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)			AAAAACAGACCTTTTTTTGGT	0.338								Homologous recombination					-	90967512	T	-	90967512	8	5	272	1	0	1	0	1	0	0	1	0	10191	1623	56	0	896	0	NBN	8	90967512	Splice_Site	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1846	90967512	55396510	934	136045											
FAM92A1	137392	broad.mit.edu	37	chr8	94738661	94738661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcaccagattattcatctCgtttagatattgtaagagca	7	7	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:94738661C>T	uc010maq.2	+	7	800	c.697C>T	c.(697-699)CGT>TGT	p.R233C	FAM92A1_uc003yfv.3_RNA|FAM92A1_uc003yfx.3_RNA|FAM92A1_uc003yfw.3_RNA|FAM92A1_uc010mar.2_Missense_Mutation_p.R40C	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	233											0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTATTCATCTCGTTTAGATAT	0.358													T	94738661	C	T	94738661	3	4	272	1	0	0	0	0	1	0	0	0	5652	884	31	1	723	1	FAM92A1	8	94738661	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3771149	94738661	51625361	935	136046											
CDH17	1015	broad.mit.edu	37	chr8	95164230	95164230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacatctgtcacaataagCgtgaacttggcaaaagaact	7	9	3	2	rs149027046	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:95164230C>T	uc003ygh.2	-	13	1787	c.1662G>A	c.(1660-1662)ACG>ACA	p.T554T	CDH17_uc011lgo.1_Silent_p.T340T|CDH17_uc011lgp.1_Silent_p.T554T	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	554	Extracellular (Potential).|Cadherin 5.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACAATAAGCGTGAACTTGG	0.423													T	95164230	C	T	95164230	2	4	272	1	0	0	0	0	0	0	0	1	3102	755	27	1		1	CDH17	8	95164230	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	425569	95164230	51199792	936	136047											
TP53INP1	94241	broad.mit.edu	37	chr8	95952276	95952277	+	Frame_Shift_Ins	INS	-	-	CT													ggggtggggtgataaaccagINSctctcctccattggacatga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:95952276_95952277insCT	uc003yhg.2	-	3	668_669	c.284_285insAG	c.(283-285)AGCfs	p.S95fs	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Frame_Shift_Ins_p.S95fs	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	95					apoptosis	PML body					0	Breast(36;8.75e-07)					TGATAAACCAGCTCTCCTCCAT	0.465													CT	95952277	-	CT	95952276	7	5	272	1	0	1	1	0	0	0	0	0	16385	962	34	0	471	0	TP53INP1	8	95952276	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	788046	95952276	50411746	937	136048	705	2									
TP53INP1	94241	broad.mit.edu	37	chr8	95952277	95952278	+	Frame_Shift_Ins	INS	-	-	CT													gggtggggtgataaaccagcINStctcctccattggacatgac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:95952276_95952277G>GCT	uc003yhg.3	-	2	668_669	c.284_285C>AGC	c.(283-285)agcfs	p.S95fs	TP53INP1_uc003yhh.3_Frame_Shift_Ins_p.S95fs	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	95					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGATAAACCAGCTCTCCTCCAT	0.465													CT	95952278	-	CT	95952277	7	5	272	1	0	1	1	0	0	0	0	0	16385	797	28	0	472	0	TP53INP1	8	95952277	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	95952277	50411745	938	136049	705	2									
VPS13B	157680	broad.mit.edu	37	chr8	100286468	100286468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaactcttgagggctcaaTccagaatgttgaattgaagt	10	8	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:100286468T>C	uc003yiv.2	+	18	2669	c.2558T>C	c.(2557-2559)ATC>ACC	p.I853T	VPS13B_uc003yiw.2_Missense_Mutation_p.I853T|VPS13B_uc003yiu.1_Missense_Mutation_p.I853T|VPS13B_uc003yix.1_Missense_Mutation_p.I324T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	853					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAGGGCTCAATCCAGAATGTT	0.388													C	100286468	T	C	100286468	3	2	272	1	0	0	0	0	1	0	0	0	17187	1435	50	3	2747	3	VPS13B	8	100286468	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	4334191	100286468	46077554	939	136050											
RGS22	26166	broad.mit.edu	37	chr8	101075899	101075899	+	Frame_Shift_Del	DEL	A	A	-													tagtttgaactaattcacttAaaaaattcttgccatgaata							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:101075899delA	uc003yjb.1	-	8	1292	c.1097delT	c.(1096-1098)TTAfs	p.L366fs	RGS22_uc003yja.1_Frame_Shift_Del_p.L185fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.L354fs|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	366					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAATTCACTTAAAAAATTCTT	0.378													-	101075899	A	-	101075899	7	5	272	1	0	1	0	1	0	0	0	0	13305	372	13	0	2777	0	RGS22	8	101075899	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	789431	101075899	45288123	940	136051											
UBR5	51366	broad.mit.edu	37	chr8	103269926	103269926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaacgcttgaactgcagAagcttctcagcattttctcc	6	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:103269926A>G	uc003ykr.1	-	58	8154	c.8121T>C	c.(8119-8121)CTT>CTC	p.L2707L	UBR5_uc003yks.1_Silent_p.L2706L|UBR5_uc003ykq.2_Silent_p.L218L	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2707	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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			TGAACTGCAGAAGCTTCTCAG	0.313													G	103269926	A	G	103269926	2	3	272	1	0	0	0	0	0	0	0	1	16902	233	9	3		3	UBR5	8	103269926	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2194027	103269926	43094096	941	136052											
SYBU	55638	broad.mit.edu	37	chr8	110598314	110598315	+	Frame_Shift_Ins	INS	-	-	T													gaagaagaagaccgcttgctINStcccgcagtcgacatatgga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:110598313_110598314C>CT	uc010mcp.3	-	4	867_868	c.505_506G>AG	c.(505-507)agcfs	p.S169fs	SYBU_uc003yni.4_Frame_Shift_Ins_p.S166fs|SYBU_uc003ynk.4_Frame_Shift_Ins_p.S50fs|SYBU_uc003ynj.4_Frame_Shift_Ins_p.S169fs|SYBU_uc010mco.3_Frame_Shift_Ins_p.S168fs|SYBU_uc003ynl.4_Frame_Shift_Ins_p.S168fs|SYBU_uc010mcq.3_Frame_Shift_Ins_p.S169fs|SYBU_uc003yno.4_Frame_Shift_Ins_p.S50fs|SYBU_uc010mcr.3_Frame_Shift_Ins_p.S169fs|SYBU_uc003ynm.4_Frame_Shift_Ins_p.S168fs|SYBU_uc003ynn.4_Frame_Shift_Ins_p.S168fs|SYBU_uc010mcs.3_Frame_Shift_Ins_p.S50fs|SYBU_uc010mct.3_Frame_Shift_Ins_p.S169fs|SYBU_uc010mcu.3_Frame_Shift_Ins_p.S168fs|SYBU_uc003ynp.4_Frame_Shift_Ins_p.S101fs|SYBU_uc010mcv.3_Frame_Shift_Ins_p.S169fs|SYBU_uc011lhw.2_Frame_Shift_Ins_p.S39fs	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	169	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|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						AGACCGCTTGCTTCCCGCAGTC	0.515													T	110598315	-	T	110598314	7	5	272	1	0	1	1	0	0	0	0	0	15424	1609	56	0	1502	0	SYBU	8	110598314	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	7328388	110598314	35765708	942	136053											
KCNV1	27012	broad.mit.edu	37	chr8	110984517	110984517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccagctttagcatgcGcagagccctgagcagcctca	10	15	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:110984517G>A	uc003ynr.3	-	2	1303	c.961C>T	c.(961-963)CGC>TGC	p.R321C	KCNV1_uc010mcw.2_Missense_Mutation_p.R321C	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	321	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTTAGCATGCGCAGAGCCCTG	0.507													A	110984517	G	A	110984517	3	1	272	1	0	0	0	0	1	0	0	0	8094	1087	38	1	549	1	KCNV1	8	110984517	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	386203	110984517	35379505	943	136054											
CSMD3	114788	broad.mit.edu	37	chr8	113348969	113348969	+	Frame_Shift_Del	DEL	A	A	-													agggggtactcttacaagccAaaaacaatcttgaaagtttg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:113348969delA	uc003ynu.2	-	44	7090	c.6931delT	c.(6931-6933)TGGfs	p.W2311fs	CSMD3_uc003yns.2_Frame_Shift_Del_p.W1513fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.W2271fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.W2207fs|CSMD3_uc003ynw.1_Frame_Shift_Del_p.W22fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2311	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTACAAGCCAAAAACAATCT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			-	113348969	A	-	113348969	7	5	272	1	0	1	0	1	0	0	0	0	3946	130	5	0	4304	0	CSMD3	8	113348969	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2364452	113348969	33015053	944	136055											
COLEC10	10584	broad.mit.edu	37	chr8	120114626	120114626	+	Frame_Shift_Del	DEL	A	A	-													tttgcttggaatacctggagAaaaaggcaaagcaggtacga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:120114625_120114625GA>G	uc003yoo.3	+	3	428	c.331_331GA>G	c.(331-333)gaafs	p.E111fs		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	111	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)			AATACCTGGAGAAAAAGGCAA	0.284													-	120114626	A	-	120114626	7	5	272	1	0	1	0	1	0	0	0	0	3710	246	9	0	346	0	COLEC10	8	120114626	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	6765657	120114626	26249396	945	136056											
COL14A1	7373	broad.mit.edu	37	chr8	121222066	121222066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgcgagtcaaatgggatGcagtgcctggggcctcaggt	16	9	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:121222066G>A	uc003yox.2	+	12	1658	c.1393G>A	c.(1393-1395)GCA>ACA	p.A465T	COL14A1_uc003yoy.2_Missense_Mutation_p.A143T|COL14A1_uc010mde.1_Missense_Mutation_p.A143T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	465	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			CAAATGGGATGCAGTGCCTGG	0.473													A	121222066	G	A	121222066	3	1	272	1	0	0	0	0	1	0	0	0	3671	1319	46	2	1435	2	COL14A1	8	121222066	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1107440	121222066	25141956	946	136057											
ATAD2	29028	broad.mit.edu	37	chr8	124381406	124381406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgttgggctttctctggTgacgaggttctaaaaaaaag	11	5	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:124381406T>C	uc003yqh.3	-	8	1049	c.941A>G	c.(940-942)CAC>CGC	p.H314R	ATAD2_uc011lii.1_Missense_Mutation_p.H105R|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.H314R	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTCTCTGGTGACGAGGTTC	0.323													C	124381406	T	C	124381406	3	2	272	1	0	0	0	0	1	0	0	0	1071	1696	59	3	3315	3	ATAD2	8	124381406	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3159340	124381406	21982616	947	136058											
FER1L6	654463	broad.mit.edu	37	chr8	125035715	125035715	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccctgacgttttcatctGgatgctcagcaacaacagga	8	11	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:125035715G>A	uc003yqw.2	+	18	2371	c.2165G>A	c.(2164-2166)TGG>TAG	p.W722*	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	722	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTTTCATCTGGATGCTCAGC	0.537													A	125035715	G	A	125035715	4	1	272	1	0	0	0	0	0	1	0	0	5815	1357	47	4	2231	4	FER1L6	8	125035715	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	654309	125035715	21328307	948	136059											
SQLE	6713	broad.mit.edu	37	chr8	126021272	126021272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccaagttcaggaaaagCctggtctccaataaagtttc	7	10	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:126021272C>T	uc011liq.1	+	5	1808	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	294					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	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)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TCAGGAAAAGCCTGGTCTCCA	0.368													T	126021272	C	T	126021272	2	4	272	1	0	0	0	0	0	0	0	1	15127	738	26	2		2	SQLE	8	126021272	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	985557	126021272	20342750	949	136060											
TRIB1	10221	broad.mit.edu	37	chr8	126445691	126445691	+	Frame_Shift_Del	DEL	G	G	-													tcttctttgagaaggactttGgggacatgcactcctatgtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:126445691delG	uc003yrx.2	+	2	1075	c.493delG	c.(493-495)GGGfs	p.G165fs	TRIB1_uc011lis.1_5'UTR|TRIB1_uc010mdn.2_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	165	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GAAGGACTTTGGGGACATGCA	0.567													-	126445691	G	-	126445691	7	5	272	1	0	1	0	1	0	0	0	0	16479	1348	47	0	499	0	TRIB1	8	126445691	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	424419	126445691	19918331	950	136061											
COL22A1	169044	broad.mit.edu	37	chr8	139606332	139606332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggctcccccatggggcCggcccggcctggaagcccat	13	18	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:139606332C>T	uc003yvd.2	-	63	4990	c.4543G>A	c.(4543-4545)GGC>AGC	p.G1515S	COL22A1_uc011ljo.1_Missense_Mutation_p.G795S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1515	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	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)			CCCATGGGGCCGGCCCGGCCT	0.652										HNSCC(7;0.00092)			T	139606332	C	T	139606332	3	4	272	1	0	0	0	0	1	0	0	0	3681	652	23	1	349	1	COL22A1	8	139606332	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13160641	139606332	6757690	951	136062											
EIF2C2	27161	broad.mit.edu	37	chr8	141595331	141595331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatttgattgttctcccGgaggtcccaaagtcgggtct	11	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:141595331G>A	uc003yvn.2	-	2	142	c.102C>T	c.(100-102)TCC>TCT	p.S34S	EIF2C2_uc010men.2_Intron|EIF2C2_uc010meo.2_Silent_p.S34S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	34					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TTGTTCTCCCGGAGGTCCCAA	0.507													A	141595331	G	A	141595331	2	1	272	1	0	0	0	0	0	0	0	1	5006	1103	39	1		1	EIF2C2	8	141595331	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1988999	141595331	4768691	952	136063											
SLC45A4	57210	broad.mit.edu	37	chr8	142222398	142222398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgccttcgccggccaaCggggaagacaggcctttctg	13	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:142222398C>T	uc003ywd.1	-	7	2354	c.2046G>A	c.(2044-2046)CCG>CCA	p.P682P	SLC45A4_uc003ywc.1_Silent_p.P682P|SLC45A4_uc010meq.1_Silent_p.P680P	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	733					transport	integral to membrane				ovary(2)	2	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)			CGCCGGCCAACGGGGAAGACA	0.637													T	142222398	C	T	142222398	2	4	272	1	0	0	0	0	0	0	0	1	14643	523	19	1		1	SLC45A4	8	142222398	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	627067	142222398	4141624	953	136064											
PTP4A3	11156	broad.mit.edu	37	chr8	142437063	142437063	+	Frame_Shift_Del	DEL	C	C	-													ggccgtttgacgatggggcgCccccgcccggcaaggtagtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:142437063delC	uc003ywg.1	+	3	557	c.223delC	c.(223-225)CCCfs	p.P75fs	PTP4A3_uc003ywh.1_Frame_Shift_Del_p.P75fs|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	75						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	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)			CGATGGGGCGCCCCCGCCCGG	0.677													-	142437063	C	-	142437063	7	5	272	1	0	1	0	1	0	0	0	0	12772	739	26	0	233	0	PTP4A3	8	142437063	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	214665	142437063	3926959	954	136065											
NAPRT1	93100	broad.mit.edu	37	chr8	144658969	144658969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacacctgggctttggccGccaggtccaccccagggccc	12	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144658969G>A	uc003yym.3	-	6	753	c.728C>T	c.(727-729)GCG>GTG	p.A243V	NAPRT1_uc003yyn.3_Missense_Mutation_p.A243V|NAPRT1_uc011lkh.1_Missense_Mutation_p.A243V|NAPRT1_uc003yyo.3_Missense_Mutation_p.A243V	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	243					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTTTGGCCGCCAGGTCCAC	0.672													A	144658969	G	A	144658969	3	1	272	1	0	0	0	0	1	0	0	0	10165	1087	38	1	920	1	NAPRT1	8	144658969	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2221906	144658969	1705053	955	136066											
TIGD5	84948	broad.mit.edu	37	chr8	144681106	144681106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgtcaaacgctacctgCgccgaagctgcctgcagcag	12	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144681106C>T	uc003yyx.1	+	1	886	c.886C>T	c.(886-888)CGC>TGC	p.R296C	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	345					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	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)			ACGCTACCTGCGCCGAAGCTG	0.697													T	144681106	C	T	144681106	3	4	272	1	0	0	0	0	1	0	0	0	15896	768	27	1	1035	1	TIGD5	8	144681106	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	22137	144681106	1682916	956	136067											
PYCRL	65263	broad.mit.edu	37	chr8	144688310	144688310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttcagccagggcctcGgagaatgcacacacctgtag	11	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144688310G>A	uc003yyy.2	-	5	610	c.600C>T	c.(598-600)TCC>TCT	p.S200S	PYCRL_uc011lkm.1_Silent_p.S180S|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	188					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCAGGGCCTCGGAGAATGCAC	0.652													A	144688310	G	A	144688310	2	1	272	1	0	0	0	0	0	0	0	1	12857	1103	39	1		1	PYCRL	8	144688310	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7204	144688310	1675712	957	136068											
ZNF707	286075	broad.mit.edu	37	chr8	144776083	144776083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggccgcagagagcgcCggaagcagcgcgcagtagag	19	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144776083C>T	uc003yze.3	+	7	814	c.499C>T	c.(499-501)CGG>TGG	p.R167W	ZNF707_uc010mfh.2_Missense_Mutation_p.R167W|ZNF707_uc010mfi.2_Missense_Mutation_p.R167W|ZNF707_uc003yzf.3_Missense_Mutation_p.R167W|ZNF707_uc003yzh.3_Missense_Mutation_p.R94W|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	167					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)			CAGAGAGCGCCGGAAGCAGCG	0.682													T	144776083	C	T	144776083	3	4	272	1	0	0	0	0	1	0	0	0	18108	643	23	1	513	1	ZNF707	8	144776083	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	87773	144776083	1587939	958	136069											
FAM83H	286077	broad.mit.edu	37	chr8	144808130	144808130	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcccaggatcttgggcacGaacttgcccaccttgctgtc	11	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144808130G>A	uc003yzk.2	-	5	3570	c.3501C>T	c.(3499-3501)TTC>TTT	p.F1167F	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1167					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			TCTTGGGCACGAACTTGCCCA	0.647													A	144808130	G	A	144808130	2	1	272	1	0	0	0	0	0	0	0	1	5640	1049	37	1		1	FAM83H	8	144808130	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	32047	144808130	1555892	959	136070											
FAM83H	286077	broad.mit.edu	37	chr8	144809289	144809289	+	Frame_Shift_Del	DEL	C	C	-													tctcgaggctgcggcgctcgCcccccacggcacctggggcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144809289delC	uc003yzk.2	-	5	2411	c.2342delG	c.(2341-2343)GGCfs	p.G781fs	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	781					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			GCGGCGCTCGCCCCCCACGGC	0.652													-	144809289	C	-	144809289	7	5	272	1	0	1	0	1	0	0	0	0	5640	739	26	0	1201	0	FAM83H	8	144809289	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1159	144809289	1554733	960	136071											
EPPK1	83481	broad.mit.edu	37	chr8	144943454	144943454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgggtacccggccgccGccctctcggcctgcccgagc	13	19	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144943454G>A	uc003zaa.1	-	1	3981	c.3968C>T	c.(3967-3969)GCG>GTG	p.A1323V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1323	Plectin 23.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			CCCGGCCGCCGCCCTCTCGGC	0.662													A	144943454	G	A	144943454	3	1	272	1	0	0	0	0	1	0	0	0	5190	1087	38	1	3298	1	EPPK1	8	144943454	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	134165	144943454	1420568	961	136072											
PLEC	5339	broad.mit.edu	37	chr8	144990675	144990675	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatcttgagcttggtcttAgggcaggtgaggtacttgga	16	5	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144990675A>G	uc003zaf.1	-	32	13895	c.13725T>C	c.(13723-13725)CCT>CCC	p.P4575P	PLEC_uc003zab.1_Silent_p.P4438P|PLEC_uc003zac.1_Silent_p.P4442P|PLEC_uc003zad.2_Silent_p.P4438P|PLEC_uc003zae.1_Silent_p.P4406P|PLEC_uc003zag.1_Silent_p.P4416P|PLEC_uc003zah.2_Silent_p.P4424P|PLEC_uc003zaj.2_Silent_p.P4465P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4575	Globular 2.|Plectin 33.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTTGGTCTTAGGGCAGGTGA	0.682													G	144990675	A	G	144990675	2	3	272	1	0	0	0	0	0	0	0	1	12052	407	15	3		3	PLEC	8	144990675	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	47221	144990675	1373347	962	136073											
PLEC	5339	broad.mit.edu	37	chr8	144999954	144999954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctccgcctgtgcctttgcCtgggcgtgcgcctcggccag	14	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144999954C>A	uc003zaf.1	-	31	4724	c.4554G>T	c.(4552-4554)CAG>CAT	p.Q1518H	PLEC_uc003zab.1_Missense_Mutation_p.Q1381H|PLEC_uc003zac.1_Missense_Mutation_p.Q1385H|PLEC_uc003zad.2_Missense_Mutation_p.Q1381H|PLEC_uc003zae.1_Missense_Mutation_p.Q1349H|PLEC_uc003zag.1_Missense_Mutation_p.Q1359H|PLEC_uc003zah.2_Missense_Mutation_p.Q1367H|PLEC_uc003zaj.2_Missense_Mutation_p.Q1408H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1518	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTGCCTTTGCCTGGGCGTGCG	0.736													A	144999954	C	A	144999954	3	1	272	1	0	0	0	0	1	0	0	0	12052	680	24	5	9508	5	PLEC	8	144999954	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	9279	144999954	1364068	963	136074											
PARP10	84875	broad.mit.edu	37	chr8	145057175	145057175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacctcctggaactccccGgtgttctctgccagacgctc	8	18	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145057175G>A	uc003zal.3	-	9	2589	c.2481C>T	c.(2479-2481)ACC>ACT	p.T827T	PARP10_uc003zak.3_Silent_p.T524T|PARP10_uc011lku.1_Silent_p.T839T|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.T818T	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	827	PARP catalytic.|Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			GGAACTCCCCGGTGTTCTCTG	0.657													A	145057175	G	A	145057175	2	1	272	1	0	0	0	0	0	0	0	1	11455	1103	39	1		1	PARP10	8	145057175	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	57221	145057175	1306847	964	136075											
SPATC1	375686	broad.mit.edu	37	chr8	145095767	145095767	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacaccctcaagcaccacCcacatcgcccagggtgcccc	6	21	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145095767C>A	uc011lkw.1	+	3	1167	c.1065C>A	c.(1063-1065)ACC>ACA	p.T355T	SPATC1_uc011lkx.1_Silent_p.T355T	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	355										ovary(1)|central_nervous_system(1)	2	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)			CAAGCACCACCCACATCGCCC	0.428													A	145095767	C	A	145095767	2	1	272	1	0	0	0	0	0	0	0	1	15016	610	22	5		5	SPATC1	8	145095767	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	38592	145095767	1268255	965	136076											
OPLAH	26873	broad.mit.edu	37	chr8	145109481	145109481	+	Frame_Shift_Del	DEL	C	C	-													caccctcctcctggaagacgCccccctggacaagtttgaag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145109480_145109480GC>G	uc003zar.3	-	18	2752	c.2670_2670GC>C	c.(2668-2670)ggcfs	p.G890fs	OPLAH_uc003zas.1_Frame_Shift_Del_p.R165fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	890							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)	CCTGGAAGACGCCCCCCTGGA	0.647													-	145109481	C	-	145109481	7	5	272	1	0	1	0	1	0	0	0	0	10876	739	26	0	1235	0	OPLAH	8	145109481	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13714	145109481	1254541	966	136077											
NFKBIL2	4796	broad.mit.edu	37	chr8	145661488	145661488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttccctgttgctggcGgggccaggcgtccaggctgc	16	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145661488G>A	uc011llg.1	-	17	2343	c.2328C>T	c.(2326-2328)CCC>CCT	p.P776P	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	776					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			TGTTGCTGGCGGGGCCAGGCG	0.726													A	145661488	G	A	145661488	2	1	272	1	0	0	0	0	0	0	0	1	10382	1103	39	1		1	NFKBIL2	8	145661488	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	552007	145661488	702534	967	136078											
RECQL4	9401	broad.mit.edu	37	chr8	145737867	145737867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccagcttgaccatgTcaaactccacggagctgctg	9	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145737867T>C	uc003zdj.2	-	18	2995	c.2963A>G	c.(2962-2964)GAC>GGC	p.D988G		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	988					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)|lung(1)|skin(1)	4	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)			CTTGACCATGTCAAACTCCAC	0.652			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				C	145737867	T	C	145737867	3	2	272	1	0	0	0	0	1	0	0	0	13202	1667	58	3	683	3	RECQL4	8	145737867	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	76379	145737867	626155	968	136079											
ZNF16	7564	broad.mit.edu	37	chr8	146156252	146156252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggatgaggaccgaacGctgactgaaggctttcccac	13	11	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:146156252G>A	uc003zet.2	-	4	2108	c.1921C>T	c.(1921-1923)CGT>TGT	p.R641C	ZNF16_uc003zeu.2_Missense_Mutation_p.R641C	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	641	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	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)		AGGACCGAACGCTGACTGAAG	0.537													A	146156252	G	A	146156252	3	1	272	1	0	0	0	0	1	0	0	0	17735	1087	38	1	131	1	ZNF16	8	146156252	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	418385	146156252	207770	969	136080											
KANK1	23189	broad.mit.edu	37	chr9	740797	740797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttacagatgtgTgtaatgtggatcaccagaac	8	5	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:740797T>C	uc003zgl.1	+	13	4208	c.3559T>C	c.(3559-3561)TGT>CGT	p.C1187R	KANK1_uc003zgn.1_Missense_Mutation_p.C1187R|KANK1_uc003zgs.1_Missense_Mutation_p.C1029R|KANK1_uc010mgx.1_Missense_Mutation_p.C165R|KANK1_uc010mgy.1_Missense_Mutation_p.C99R|KANK1_uc003zgt.1_Missense_Mutation_p.C99R	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1187	ANK 1.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		TACAGATGTGTGTAATGTGGA	0.493													C	740797	T	C	740797	3	2	272	1	0	0	0	0	1	0	0	0	7976	1696	59	3	3589	3	KANK1	9	740797	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08		740797	140472634	970	136081											
VLDLR	7436	broad.mit.edu	37	chr9	2647580	2647580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatatccagtggcctaacGgaattacacttggtatgtat	10	8	0	0	rs147695876		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:2647580G>A	uc003zhk.1	+	12	2207	c.1810G>A	c.(1810-1812)GGA>AGA	p.G604R	VLDLR_uc003zhl.1_Missense_Mutation_p.G604R|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.G563R	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	604	Extracellular (Potential).|LDL-receptor class B 4.				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTGGCCTAACGGAATTACACT	0.438													A	2647580	G	A	2647580	3	1	272	1	0	0	0	0	1	0	0	0	17171	1117	39	1	1856	1	VLDLR	9	2647580	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1906783	2647580	138565851	971	136082											
PTPRD	5789	broad.mit.edu	37	chr9	8485951	8485951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgatatccctataaagaaGggtatacttggtgataatgc	10	5	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:8485951G>T	uc003zkk.2	-	27	3577	c.2866C>A	c.(2866-2868)CTT>ATT	p.L956I	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.L947I|PTPRD_uc003zkm.2_Missense_Mutation_p.L943I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	956	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		CTATAAAGAAGGGTATACTTG	0.473										TSP Lung(15;0.13)			T	8485951	G	T	8485951	3	4	272	1	0	0	0	0	1	0	0	0	12799	1000	35	5	3016	5	PTPRD	9	8485951	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5838371	8485951	132727480	972	136083											
CNTLN	54875	broad.mit.edu	37	chr9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-													ggcgacaaataagagagcttAaaaaaatgaagaaaaacagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						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)		TAAGAGAGCTTAAAAAAATGA	0.398													-	17484353	A	-	17484353	7	5	272	1	0	1	0	1	0	0	0	0	3639	363	13	0	4040	0	CNTLN	9	17484353	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	8998402	17484353	123729078	973	136084											
PLIN2	123	broad.mit.edu	37	chr9	19119689	19119690	+	Frame_Shift_Ins	INS	-	-	T													tgagaaatggtctgttggctINStttttgcttagcttctttaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:19119688_19119689C>CT	uc003zno.3	-	5	946_947	c.736_737G>AG	c.(736-738)agcfs	p.S246fs	PLIN2_uc011lna.2_Frame_Shift_Ins_p.S218fs|PLIN2_uc011lnb.2_Frame_Shift_Ins_p.K202fs	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	246					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						GGTCTGTTGGCTTTTTTGCTTA	0.446													T	19119690	-	T	19119689	7	5	272	1	0	1	1	0	0	0	0	0	12090	1609	56	0	589	0	PLIN2	9	19119689	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1635336	19119689	122093742	974	136085											
IFNA7	3444	broad.mit.edu	37	chr9	21201602	21201602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaccagttttcaatccTtcctccttaatccttttttc	3	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:21201602T>C	uc003zop.1	-	1	603	c.563A>G	c.(562-564)AAG>AGG	p.K188R	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	188					blood coagulation|cell-cell signaling|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				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTTTCAATCCTTCCTCCTTAA	0.383													C	21201602	T	C	21201602	3	2	272	1	0	0	0	0	1	0	0	0	7542	1609	56	3	10	3	IFNA7	9	21201602	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2081913	21201602	120011829	975	136086											
KLHL9	55958	broad.mit.edu	37	chr9	21333734	21333734	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcatccatttattataCcgaggatcaaatctgaaaac	5	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:21333734C>T	uc003zoy.2	-	1	1696	c.1125G>A	c.(1123-1125)CGG>CGA	p.R375R	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	375	Kelch 2.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTTATTATACCGAGGATCAA	0.388													T	21333734	C	T	21333734	2	4	272	1	0	0	0	0	0	0	0	1	8396	494	18	4		4	KLHL9	9	21333734	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	132132	21333734	119879697	976	136087											
TAF1L	138474	broad.mit.edu	37	chr9	32633790	32633790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgccccgaagaccctgTtgcttggggaaataatactc	11	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:32633790T>A	uc003zrg.1	-	1	1878	c.1788A>T	c.(1786-1788)CAA>CAT	p.Q596H	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	596					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			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGACCCTGTTGCTTGGGGA	0.483													A	32633790	T	A	32633790	3	1	272	1	0	0	0	0	1	0	0	0	15520	1722	60	5	3696	5	TAF1L	9	32633790	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	11300056	32633790	108579641	977	136088											
APTX	54840	broad.mit.edu	37	chr9	32973609	32973609	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcaggcatcccatctcGgacagttactctaccagcct	8	15	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:32973609G>A	uc003zrm.2	-	7	1113	c.916C>T	c.(916-918)CGA>TGA	p.R306*	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Nonsense_Mutation_p.R218*|APTX_uc011lns.1_Nonsense_Mutation_p.R127*|APTX_uc003zrl.2_Nonsense_Mutation_p.R132*|APTX_uc003zrn.2_Nonsense_Mutation_p.R218*|APTX_uc003zro.2_Nonsense_Mutation_p.R306*|APTX_uc003zrp.2_Nonsense_Mutation_p.R218*|APTX_uc003zrq.2_Nonsense_Mutation_p.R218*|APTX_uc003zrr.2_Nonsense_Mutation_p.R252*|APTX_uc003zrs.2_Nonsense_Mutation_p.R306*|APTX_uc003zrt.2_Nonsense_Mutation_p.R218*|APTX_uc003zru.2_Nonsense_Mutation_p.R252*|APTX_uc003zrv.2_3'UTR|APTX_uc003zrw.2_Nonsense_Mutation_p.R234*|APTX_uc003zrx.2_3'UTR|APTX_uc003zry.2_Nonsense_Mutation_p.R306*|APTX_uc003zrz.2_Nonsense_Mutation_p.R127*	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	320					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			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		ATCCCATCTCGGACAGTTACT	0.502								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	32973609	G	A	32973609	4	1	272	1	0	0	0	0	0	1	0	0	820	1124	39	1	116	1	APTX	9	32973609	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	339819	32973609	108239822	978	136089											
KIAA1161	57462	broad.mit.edu	37	chr9	34370860	34370860	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtaatcggtgagcagcacCggcgtcttgtcgaaaagctc	14	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:34370860C>A	uc003zue.3	-	3	2249	c.2082G>T	c.(2080-2082)CCG>CCT	p.P694P		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	694	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGAGCAGCACCGGCGTCTTGT	0.642													A	34370860	C	A	34370860	2	1	272	1	0	0	0	0	0	0	0	1	8211	639	23	5		5	KIAA1161	9	34370860	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1397251	34370860	106842571	979	136090											
PIGO	84720	broad.mit.edu	37	chr9	35095104	35095104	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccactatggcgtggctggcGaagttactaccagcatcaat	10	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35095104G>A	uc003zwd.2	-	2	855	c.459C>T	c.(457-459)TTC>TTT	p.F153F	PIGO_uc003zwc.1_Silent_p.F153F|PIGO_uc003zwe.2_Silent_p.F153F|PIGO_uc003zwf.2_Silent_p.F153F|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	153					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGTGGCTGGCGAAGTTACTAC	0.527													A	35095104	G	A	35095104	2	1	272	1	0	0	0	0	0	0	0	1	11894	1049	37	1		1	PIGO	9	35095104	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	724244	35095104	106118327	980	136091											
RUSC2	9853	broad.mit.edu	37	chr9	35547693	35547693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccgtcttgttgtggCcacacaaaattactataaac	7	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35547693C>T	uc003zww.2	+	2	1430	c.1175C>T	c.(1174-1176)GCC>GTC	p.A392V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A392V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	392						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTTGTTGTGGCCACACAAAAT	0.547													T	35547693	C	T	35547693	3	4	272	1	0	0	0	0	1	0	0	0	13751	739	26	2	1177	2	RUSC2	9	35547693	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	452589	35547693	105665738	981	136092											
TESK1	7016	broad.mit.edu	37	chr9	35607360	35607360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagatcgaggcttcaccGctgtcgtgggtgacttcggg	17	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35607360G>A	uc003zxa.2	+	5	910	c.574G>A	c.(574-576)GCT>ACT	p.A192T	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Intron	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	192	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCTTCACCGCTGTCGTGGG	0.542													A	35607360	G	A	35607360	3	1	272	1	0	0	0	0	1	0	0	0	15764	1087	38	1	592	1	TESK1	9	35607360	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	59667	35607360	105606071	982	136093											
TLN1	7094	broad.mit.edu	37	chr9	35706052	35706052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgtcaggtcctctacGgcctcggtcatcatctgcac	10	13	5	0	rs141032582	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35706052G>A	uc003zxt.2	-	41	5772	c.5418C>T	c.(5416-5418)GCC>GCT	p.A1806A		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1806	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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCCTCTACGGCCTCGGTCA	0.602													A	35706052	G	A	35706052	2	1	272	1	0	0	0	0	0	0	0	1	15944	1103	39	1		1	TLN1	9	35706052	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	98692	35706052	105507379	983	136094											
CREB3	10488	broad.mit.edu	37	chr9	35736104	35736104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgagatatcaaacaaaaCcagcagcagcagcacctgca	8	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35736104C>T	uc003zxv.2	+	7	1124	c.671C>T	c.(670-672)ACC>ATC	p.T224I	CREB3_uc010mla.2_Missense_Mutation_p.T143I	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	248	Cytoplasmic (Potential).				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|integral to membrane|nucleus|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|sequence-specific DNA binding transcription factor activity				0	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)		TCAAACAAAACCAGCAGCAGC	0.517											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	35736104	C	T	35736104	3	4	272	1	0	0	0	0	1	0	0	0	3855	507	18	4	697	4	CREB3	9	35736104	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	30052	35736104	105477327	984	136095											
SHB	6461	broad.mit.edu	37	chr9	38068427	38068427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctggtgctgccgctgtcGtcgggcagcgagcccgaaga	16	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:38068427G>A	uc004aax.2	-	1	784	c.216C>T	c.(214-216)GAC>GAT	p.D72D		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	72	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)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGCCGCTGTCGTCGGGCAGCG	0.726													A	38068427	G	A	38068427	2	1	272	1	0	0	0	0	0	0	0	1	14268	1136	40	1		1	SHB	9	38068427	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2332323	38068427	103145004	985	136096											
ALDH1B1	219	broad.mit.edu	37	chr9	38395768	38395768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcttcctggcaccccGgctgcttagcctccagggca	12	17	0	0	rs61757680		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:38395768G>A	uc004aay.2	+	2	135	c.23G>A	c.(22-24)CGG>CAG	p.R8Q		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	8					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTGGCACCCCGGCTGCTTAGC	0.627													A	38395768	G	A	38395768	3	1	272	1	0	0	0	0	1	0	0	0	493	1116	39	1	25	1	ALDH1B1	9	38395768	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	327341	38395768	102817663	986	136097											
ALDH1B1	219	broad.mit.edu	37	chr9	38396542	38396542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccggttccaccgaggTgggccacctgatccagaaag	11	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:38396542T>C	uc004aay.2	+	2	909	c.797T>C	c.(796-798)GTG>GCG	p.V266A		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	266	NAD (By similarity).				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCCACCGAGGTGGGCCACCTG	0.607													C	38396542	T	C	38396542	3	2	272	1	0	0	0	0	1	0	0	0	493	1696	59	3	799	3	ALDH1B1	9	38396542	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	774	38396542	102816889	987	136098											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	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			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	272	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	32596603	70993145	70220286	988	136099											
APBA1	320	broad.mit.edu	37	chr9	72071204	72071204	+	Frame_Shift_Del	DEL	T	T	-													gcagatcatcttgtactgccTtttcccatcctgggatgggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:72071203_72071203CT>C	uc004ahh.2	-	7	2024	c.1748_1748AG>G	c.(1747-1749)aggfs	p.R583fs		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	583	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						CTTGTACTGCCTTTTCCCATC	0.542													-	72071204	T	-	72071204	7	5	272	1	0	1	0	1	0	0	0	0	756	1608	56	0	790	0	APBA1	9	72071204	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1078059	72071204	69142227	989	136100											
TRPM3	80036	broad.mit.edu	37	chr9	73152123	73152123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacaatgtaggcggcgtcCgtgcagtctgacgaggtcct	15	11	1	1	rs147000092		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:73152123C>T	uc004aid.2	-	25	4114	c.3870G>A	c.(3868-3870)ACG>ACA	p.T1290T	TRPM3_uc004ahu.2_Silent_p.T1132T|TRPM3_uc004ahv.2_Silent_p.T1092T|TRPM3_uc004ahw.2_Silent_p.T1162T|TRPM3_uc004ahx.2_Silent_p.T1149T|TRPM3_uc004ahy.2_Silent_p.T1152T|TRPM3_uc004ahz.2_Silent_p.T1139T|TRPM3_uc004aia.2_Silent_p.T1137T|TRPM3_uc004aib.2_Silent_p.T1127T|TRPM3_uc004aic.2_Silent_p.T1290T	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1315	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AGGCGGCGTCCGTGCAGTCTG	0.597													T	73152123	C	T	73152123	2	4	272	1	0	0	0	0	0	0	0	1	16584	639	23	1		1	TRPM3	9	73152123	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1080919	73152123	68061308	990	136101											
TRPM3	80036	broad.mit.edu	37	chr9	73225584	73225584	+	Frame_Shift_Del	DEL	G	G	-													ttcatagatttttctgccgaGggggattaaccggtgcttgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:73225583_73225583AG>A	uc004aid.3	-	17	2817	c.2573_2573CT>T	c.(2572-2574)ctcfs	p.L858fs	TRPM3_uc004ahu.3_Frame_Shift_Del_p.L688fs|TRPM3_uc004ahv.3_Frame_Shift_Del_p.L660fs|TRPM3_uc004ahw.3_Frame_Shift_Del_p.L730fs|TRPM3_uc004ahx.3_Frame_Shift_Del_p.L717fs|TRPM3_uc004ahy.3_Frame_Shift_Del_p.L720fs|TRPM3_uc004ahz.3_Frame_Shift_Del_p.L707fs|TRPM3_uc004aia.3_Frame_Shift_Del_p.L705fs|TRPM3_uc004aib.3_Frame_Shift_Del_p.L695fs|TRPM3_uc004aic.3_Frame_Shift_Del_p.L858fs	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	883						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						TTTTCTGCCGAGGGGGATTAA	0.468													-	73225584	G	-	73225584	7	5	272	1	0	1	0	1	0	0	0	0	16584	1000	35	0	2583	0	TRPM3	9	73225584	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	73461	73225584	67987847	991	136102											
TRPM3	80036	broad.mit.edu	37	chr9	73233869	73233869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacgtgtgcgcgatgaagtCgcggtgtttggcagccacgg	17	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:73233869C>T	uc004aid.2	-	16	2480	c.2236G>A	c.(2236-2238)GAC>AAC	p.D746N	TRPM3_uc004ahu.2_Missense_Mutation_p.D576N|TRPM3_uc004ahv.2_Missense_Mutation_p.D548N|TRPM3_uc004ahw.2_Missense_Mutation_p.D618N|TRPM3_uc004ahx.2_Missense_Mutation_p.D605N|TRPM3_uc004ahy.2_Missense_Mutation_p.D608N|TRPM3_uc004ahz.2_Missense_Mutation_p.D595N|TRPM3_uc004aia.2_Missense_Mutation_p.D593N|TRPM3_uc004aib.2_Missense_Mutation_p.D583N|TRPM3_uc004aic.2_Missense_Mutation_p.D746N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	771	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GCGATGAAGTCGCGGTGTTTG	0.612													T	73233869	C	T	73233869	3	4	272	1	0	0	0	0	1	0	0	0	16584	884	31	1	2927	1	TRPM3	9	73233869	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8285	73233869	67979562	992	136103											
NTRK2	4915	broad.mit.edu	37	chr9	87482168	87482168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctccaggcccagcctcCgttatcagcaatgatgatga	8	14	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:87482168C>T	uc004aoa.1	+	15	2345	c.1407C>T	c.(1405-1407)TCC>TCT	p.S469S	NTRK2_uc004any.1_Silent_p.S469S|NTRK2_uc004anz.1_Silent_p.S485S|NTRK2_uc011lsz.1_Silent_p.S485S|NTRK2_uc011lta.1_Silent_p.S469S|NTRK2_uc004aoc.2_Silent_p.S20S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	469	Cytoplasmic (Potential).				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			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GCCCAGCCTCCGTTATCAGCA	0.343										TSP Lung(25;0.17)			T	87482168	C	T	87482168	2	4	272	1	0	0	0	0	0	0	0	1	10707	639	23	1		1	NTRK2	9	87482168	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	14248299	87482168	53731263	993	136104											
ZCCHC6	79670	broad.mit.edu	37	chr9	88937944	88937944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttccacattctttcacGtcttcatacttagcagcttc	4	12	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:88937944G>A	uc004aoq.2	-	13	2936	c.2721C>T	c.(2719-2721)GAC>GAT	p.D907D	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Silent_p.D784D|ZCCHC6_uc004aou.2_Silent_p.D907D	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	907	Glu-rich.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						ATTCTTTCACGTCTTCATACT	0.403													A	88937944	G	A	88937944	2	1	272	1	0	0	0	0	0	0	0	1	17589	1136	40	1		1	ZCCHC6	9	88937944	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1455776	88937944	52275487	994	136105											
DAPK1	1612	broad.mit.edu	37	chr9	90263711	90263711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtctggagagatggccCtccacgtggcagctcgctat	13	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:90263711C>A	uc004apc.2	+	15	1483	c.1345C>A	c.(1345-1347)CTC>ATC	p.L449I	DAPK1_uc004ape.2_Missense_Mutation_p.L449I|DAPK1_uc004apd.2_Missense_Mutation_p.L449I|DAPK1_uc011ltg.1_Missense_Mutation_p.L449I|DAPK1_uc011lth.1_Missense_Mutation_p.L186I|DAPK1_uc004apf.1_Missense_Mutation_p.L3I	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	449	ANK 3.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						AGAGATGGCCCTCCACGTGGC	0.567									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90263711	C	A	90263711	3	1	272	1	0	0	0	0	1	0	0	0	4235	681	24	5	1399	5	DAPK1	9	90263711	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1325767	90263711	50949720	995	136106											
S1PR3	1903	broad.mit.edu	37	chr9	91617033	91617033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccagcaaggagatgcgGcgggccttcttccgtctggt	15	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:91617033G>A	uc004aqe.2	+	2	1314	c.918G>A	c.(916-918)CGG>CGA	p.R306R		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	306	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						AGGAGATGCGGCGGGCCTTCT	0.622													A	91617033	G	A	91617033	2	1	272	1	0	0	0	0	0	0	0	1	13795	1190	42	2		2	S1PR3	9	91617033	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1353322	91617033	49596398	996	136107											
NOL8	55035	broad.mit.edu	37	chr9	95077300	95077300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcaggacgaatacactgtCggcctctgcggaggccagtg	14	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:95077300C>T	uc004arv.2	-	7	1944	c.1607G>A	c.(1606-1608)CGA>CAA	p.R536Q	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.R468Q	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	536					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						AATACACTGTCGGCCTCTGCG	0.493													T	95077300	C	T	95077300	3	4	272	1	0	0	0	0	1	0	0	0	10527	884	31	1	1940	1	NOL8	9	95077300	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3460267	95077300	46136131	997	136108											
FAM120A	23196	broad.mit.edu	37	chr9	96261128	96261128	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaattggatattattcagcGactagtaagcctatgtcatt	8	7	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:96261128G>A	uc004atw.2	+	5	1015	c.990G>A	c.(988-990)GCG>GCA	p.A330A	FAM120A_uc004atv.2_Silent_p.A330A|FAM120A_uc004atx.2_Silent_p.A112A|FAM120A_uc004aty.2_Silent_p.A112A	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	330						cytoplasm|plasma membrane	RNA binding				0						ATTATTCAGCGACTAGTAAGC	0.338													A	96261128	G	A	96261128	2	1	272	1	0	0	0	0	0	0	0	1	5415	1045	37	1		1	FAM120A	9	96261128	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1183828	96261128	44952303	998	136109											
C9orf102	375748	broad.mit.edu	37	chr9	98678534	98678534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggccttttagggagtGggacctacttcaagaagcag	13	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:98678534G>T	uc004avt.3	+	6	1397	c.1009G>T	c.(1009-1011)GGG>TGG	p.G337W	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.G39W|C9orf102_uc010mry.1_Missense_Mutation_p.G39W|C9orf102_uc010mrz.2_Missense_Mutation_p.G148W	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	337					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TTTAGGGAGTGGGACCTACTT	0.423													T	98678534	G	T	98678534	3	4	272	1	0	0	0	0	1	0	0	0	2445	1348	47	5	1031	5	C9orf102	9	98678534	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2417406	98678534	42534897	999	136110											
ANKS6	203286	broad.mit.edu	37	chr9	101530424	101530424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagacgggctggaccccGgtgctggccccacagggctt	15	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:101530424G>A	uc004ayu.2	-	11	2102	c.2081C>T	c.(2080-2082)CCG>CTG	p.P694L	ANKS6_uc004ayt.2_Missense_Mutation_p.P393L|ANKS6_uc004ayv.1_Missense_Mutation_p.P156L|ANKS6_uc004ayw.1_Missense_Mutation_p.P276L|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	694	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GCTGGACCCCGGTGCTGGCCC	0.582													A	101530424	G	A	101530424	3	1	272	1	0	0	0	0	1	0	0	0	692	1116	39	1	554	1	ANKS6	9	101530424	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2851890	101530424	39683007	1000	136111											
TMEFF1	8577	broad.mit.edu	37	chr9	103271406	103271406	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtaatagcaagaggaccAtgctactctggtatgtatga	10	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:103271406A>G	uc004baz.1	+	3	536	c.426A>G	c.(424-426)CCA>CCG	p.P142P	TMEFF1_uc004bay.1_Silent_p.P216P	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	142	Kazal-like 1.|Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				CAAGAGGACCATGCTACTCTG	0.378													G	103271406	A	G	103271406	2	3	272	1	0	0	0	0	0	0	0	1	16010	204	8	3		3	TMEFF1	9	103271406	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1740982	103271406	37942025	1001	136112											
LPPR1	54886	broad.mit.edu	37	chr9	104075105	104075105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattacaagcacaatcaagaCgaagagcagtcgactggcca	9	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:104075105C>T	uc004bbb.2	+	6	1061	c.662C>T	c.(661-663)ACG>ATG	p.T221M	LPPR1_uc011lvi.1_Missense_Mutation_p.T197M|LPPR1_uc004bbc.2_Missense_Mutation_p.T221M|LPPR1_uc010mtc.2_Missense_Mutation_p.T205M	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	221						integral to membrane	catalytic activity				0						ACAATCAAGACGAAGAGCAGT	0.547													T	104075105	C	T	104075105	3	4	272	1	0	0	0	0	1	0	0	0	8924	536	19	1	680	1	LPPR1	9	104075105	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	803699	104075105	37138326	1002	136113											
EPB41L4B	54566	broad.mit.edu	37	chr9	112042122	112042122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcagagtcgaggaacTggaggccaaagtaatctgtt	14	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:112042122T>C	uc004bdz.1	-	2	681	c.386A>G	c.(385-387)CAG>CGG	p.Q129R	EPB41L4B_uc004bea.2_Missense_Mutation_p.Q129R	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	129	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GTCGAGGAACTGGAGGCCAAA	0.438													C	112042122	T	C	112042122	3	2	272	1	0	0	0	0	1	0	0	0	5156	1580	55	3	2568	3	EPB41L4B	9	112042122	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	7967017	112042122	29171309	1003	136114											
PTPN3	5774	broad.mit.edu	37	chr9	112185106	112185106	+	Frame_Shift_Del	DEL	T	T	-													acaccatcccgccaatcaccTttttgcaatattggttattt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:112185105_112185105CT>C	uc004bed.2	-	12	1141	c.1029_1029AG>G	c.(1027-1029)aagfs	p.K343fs	PTPN3_uc004beb.2_Frame_Shift_Del_p.K212fs|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Frame_Shift_Del_p.K56fs|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	343					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						CGCCAATCACCTTTTTGCAAT	0.458													-	112185106	T	-	112185106	7	5	272	1	0	1	0	1	0	0	0	0	12789	1609	56	0	1769	0	PTPN3	9	112185106	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	142984	112185106	29028325	1004	136115											
MUSK	4593	broad.mit.edu	37	chr9	113538217	113538217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgcattgggaccccaCggcctgtgccagactgccac	11	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:113538217C>T	uc004bey.2	+	9	1432	c.1334C>T	c.(1333-1335)ACG>ATG	p.T445M	MUSK_uc004bez.1_Missense_Mutation_p.T33M	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	445	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TGGGACCCCACGGCCTGTGCC	0.478													T	113538217	C	T	113538217	3	4	272	1	0	0	0	0	1	0	0	0	9989	536	19	1	1404	1	MUSK	9	113538217	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1353111	113538217	27675214	1005	136116											
SNX30	401548	broad.mit.edu	37	chr9	115598612	115598612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgagtttgctgccatagGtgactacttagatacatttg	10	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:115598612G>A	uc004bgj.3	+	5	885	c.737G>A	c.(736-738)GGT>GAT	p.G246D	SNX30_uc004bgi.3_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	246					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						GCTGCCATAGGTGACTACTTA	0.502													A	115598612	G	A	115598612	3	1	272	1	0	0	0	0	1	0	0	0	14900	1261	44	4	755	4	SNX30	9	115598612	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2060395	115598612	25614819	1006	136117											
BSPRY	54836	broad.mit.edu	37	chr9	116124670	116124670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggagcaagagattttcGagaggtgagtatagaccccg	14	6	0	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:116124670G>A	uc004bhg.3	+	4	601	c.553G>A	c.(553-555)GAG>AAG	p.E185K	BSPRY_uc010muw.2_Missense_Mutation_p.E185K	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	185					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)	1						AGAGATTTTCGAGAGGTGAGT	0.483													A	116124670	G	A	116124670	3	1	272	1	0	0	0	0	1	0	0	0	1532	1059	37	1	567	1	BSPRY	9	116124670	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	526058	116124670	25088761	1007	136118											
POLE3	54107	broad.mit.edu	37	chr9	116171910	116171911	+	Frame_Shift_Ins	INS	-	-	G													ttccagagcttctttcaatgINSgggtaacgaaccgctggaac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:116171909_116171910T>TG	uc011lxg.1	-	2	633_634	c.251_252A>CA	c.(250-252)ccafs	p.P84fs	POLE3_uc004bhn.2_Frame_Shift_Ins_p.P84fs|C9orf43_uc004bho.4_5'Flank|C9orf43_uc004bhp.3_5'Flank	NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 3 (p17 subunit) (POLE3), mRNA.	84					DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding			large_intestine(2)|lung(1)	3						CTTCTTTCAATGGGGTAACGAA	0.495													G	116171911	-	G	116171910	7	5	272	1	0	1	1	0	0	0	0	0	12198	1348	47	0	200	0	POLE3	9	116171910	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	47240	116171910	25041521	1008	136119											
RGS3	5998	broad.mit.edu	37	chr9	116267792	116267792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccagttcgagtccaggCcgtggattccggtaagttat	11	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:116267792C>T	uc004bhq.2	+	12	1177	c.968C>T	c.(967-969)GCC>GTC	p.A323V	RGS3_uc004bhr.2_Missense_Mutation_p.A211V|RGS3_uc004bhs.2_Missense_Mutation_p.A213V|RGS3_uc004bht.2_Missense_Mutation_p.A42V|RGS3_uc010muy.2_Missense_Mutation_p.A42V|RGS3_uc004bhu.2_5'UTR	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	323	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						CGAGTCCAGGCCGTGGATTCC	0.577													T	116267792	C	T	116267792	3	4	272	1	0	0	0	0	1	0	0	0	13306	739	26	2	1151	2	RGS3	9	116267792	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	95882	116267792	24945639	1009	136120											
MEGF9	1955	broad.mit.edu	37	chr9	123367553	123367553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcatcttccaacaatcccGaaacatctgcattgggaatg	6	12	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:123367553G>A	uc004bkj.1	-	8	1835	c.1835C>T	c.(1834-1836)TCG>TTG	p.S612L	MEGF9_uc011lyb.1_Missense_Mutation_p.S567L	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	575	Cytoplasmic (Potential).					integral to membrane	calcium ion binding				0						CAACAATCCCGAAACATCTGC	0.478													A	123367553	G	A	123367553	3	1	272	1	0	0	0	0	1	0	0	0	9464	1059	37	1	88	1	MEGF9	9	123367553	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7099761	123367553	17845878	1010	136121											
RAB14	51552	broad.mit.edu	37	chr9	123943720	123943720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggggttcactggttagcCggcctccctgcggggctgaa	16	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:123943720C>T	uc004blc.2	-	8	1058	c.602G>A	c.(601-603)CGG>CAG	p.R201Q		NM_016322	NP_057406	P61106	RAB14_HUMAN	GTPase Rab14	201					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity				0						ACTGGTTAGCCGGCCTCCCTG	0.532													T	123943720	C	T	123943720	3	4	272	1	0	0	0	0	1	0	0	0	12900	652	23	1	49	1	RAB14	9	123943720	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	576167	123943720	17269711	1011	136122											
NDUFA8	4702	broad.mit.edu	37	chr9	124914576	124914576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgccttcctctaaacaccGcctcggatctttctcttccc	4	17	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:124914576G>A	uc004blv.2	-	2	305	c.163C>T	c.(163-165)CGG>TGG	p.R55W		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	55	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	TCTAAACACCGCCTCGGATCT	0.458													A	124914576	G	A	124914576	3	1	272	1	0	0	0	0	1	0	0	0	10271	1086	38	1	367	1	NDUFA8	9	124914576	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	970856	124914576	16298855	1012	136123											
RC3H2	54542	broad.mit.edu	37	chr9	125627678	125627678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcattctgaccattagcGccaacctttcccactttctt	5	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:125627678G>A	uc010mwc.1	-	10	1825	c.1584C>T	c.(1582-1584)GGC>GGT	p.G528G	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Silent_p.G528G|RC3H2_uc004bne.3_Silent_p.G528G	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	528						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GACCATTAGCGCCAACCTTTC	0.408													A	125627678	G	A	125627678	2	1	272	1	0	0	0	0	0	0	0	1	13167	1074	38	1		1	RC3H2	9	125627678	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	713102	125627678	15585753	1013	136124											
RABGAP1	23637	broad.mit.edu	37	chr9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-													acaaggcagaatctgagattAaaaaaaacagttctatcatt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					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						AATCTGAGATTAAAAAAAACA	0.398													-	125861042	A	-	125861042	7	5	272	1	0	1	0	1	0	0	0	0	12964	363	13	0	2868	0	RABGAP1	9	125861042	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	233364	125861042	15352389	1014	136125											
FAM125B	89853	broad.mit.edu	37	chr9	129184191	129184191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagcacccggacggacTacgagtaccagcactccaat	10	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:129184191T>C	uc004bqh.1	+	7	802	c.721T>C	c.(721-723)TAC>CAC	p.Y241H	FAM125B_uc011lzy.1_Missense_Mutation_p.Y226H|FAM125B_uc010mxd.2_Missense_Mutation_p.Y234H	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	241					protein transport	late endosome membrane					0						CCGGACGGACTACGAGTACCA	0.567													C	129184191	T	C	129184191	3	2	272	1	0	0	0	0	1	0	0	0	5428	1522	53	3	751	3	FAM125B	9	129184191	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3323149	129184191	12029240	1015	136126											
LMX1B	4010	broad.mit.edu	37	chr9	129458222	129458222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcccctacggcagcagcGaccccttccagcagggcctc	11	18	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:129458222G>A	uc004bqj.2	+	7	972	c.922G>A	c.(922-924)GAC>AAC	p.D308N	LMX1B_uc004bqi.2_Missense_Mutation_p.D308N|LMX1B_uc011maa.1_Missense_Mutation_p.D319N	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	308					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGGCAGCAGCGACCCCTTCCA	0.677									Nail-Patella_Syndrome				A	129458222	G	A	129458222	3	1	272	1	0	0	0	0	1	0	0	0	8862	1058	37	1	1050	1	LMX1B	9	129458222	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	274031	129458222	11755209	1016	136127											
GARNL3	84253	broad.mit.edu	37	chr9	130149474	130149474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcttcctttctagtcGgatatatacttcacagcaac	4	13	4	0	rs149694236	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:130149474G>A	uc011mae.1	+	25	2792	c.2391G>A	c.(2389-2391)TCG>TCA	p.S797S	GARNL3_uc011mad.1_Silent_p.S775S|GARNL3_uc010mxi.2_Silent_p.S27S	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	797	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTTTCTAGTCGGATATATACT	0.577													A	130149474	G	A	130149474	2	1	272	1	0	0	0	0	0	0	0	1	6241	1103	39	1		1	GARNL3	9	130149474	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	691252	130149474	11063957	1017	136128											
LCN2	3934	broad.mit.edu	37	chr9	130911884	130911884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactccacctcagaccTgatcccagccccacctctga	6	20	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:130911884T>C	uc004bto.1	+	1	153	c.80T>C	c.(79-81)CTG>CCG	p.L27P	LCN2_uc010mxq.1_Missense_Mutation_p.L27P|LCN2_uc011map.1_Missense_Mutation_p.L27P	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						ACCTCAGACCTGATCCCAGCC	0.637													C	130911884	T	C	130911884	3	2	272	1	0	0	0	0	1	0	0	0	8684	1580	55	3	82	3	LCN2	9	130911884	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	762410	130911884	10301547	1018	136129											
ODF2	4957	broad.mit.edu	37	chr9	131222859	131222859	+	Frame_Shift_Del	DEL	C	C	-													tgaaggaccgctcttcaactCcccccttacatgttcacgtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131222858_131222858TC>T	uc004bvc.3	+	2	371	c.285_285TC>T	c.(283-285)actfs	p.T95fs	ODF2_uc011maz.2_Intron|ODF2_uc011mba.2_Non-coding_Transcript|ODF2_uc010myb.3_Frame_Shift_Del_p.T7fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.T7fs|ODF2_uc022boj.1_Intron|ODF2_uc004bva.3_Intron|ODF2_uc004bvb.3_Frame_Shift_Del_p.T7fs|ODF2_uc011mbd.2_Intron|ODF2_uc011mbe.2_Frame_Shift_Del_p.T7fs|ODF2_uc010myc.3_Intron|ODF2_uc011mbf.2_Intron|ODF2_uc004bvd.4_Intron|ODF2_uc004bve.3_Intron	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	41					G2/M transition of mitotic cell cycle|cell differentiation|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						GCTCTTCAACTCCCCCCTTAC	0.517													-	131222859	C	-	131222859	7	5	272	1	0	1	0	1	0	0	0	0	10827	855	30	0	155	0	ODF2	9	131222859	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	310975	131222859	9990572	1019	136130											
SPTAN1	6709	broad.mit.edu	37	chr9	131355282	131355282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacgcataactaaggaggCcggcagtgtatctctgcgta	12	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131355282C>T	uc004bvl.3	+	23	3289	c.3176C>T	c.(3175-3177)GCC>GTC	p.A1059V	SPTAN1_uc011mbg.1_Intron|SPTAN1_uc011mbh.1_Missense_Mutation_p.A1071V|SPTAN1_uc004bvm.3_Missense_Mutation_p.A1059V|SPTAN1_uc004bvn.3_Intron	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1059					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			breast(5)|ovary(4)|pancreas(1)	10						ACTAAGGAGGCCGGCAGTGTA	0.532													T	131355282	C	T	131355282	3	4	272	1	0	0	0	0	1	0	0	0	15116	739	26	2	3262	2	SPTAN1	9	131355282	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	132423	131355282	9858149	1020	136131											
PKN3	29941	broad.mit.edu	37	chr9	131475388	131475388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacagccgtgcctgggcGctccccagcggccgcactgg	15	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131475388G>A	uc004bvw.2	+	7	1286	c.893G>A	c.(892-894)CGC>CAC	p.R298H	PKN3_uc010myh.2_Missense_Mutation_p.R298H|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	298					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GTGCCTGGGCGCTCCCCAGCG	0.682													A	131475388	G	A	131475388	3	1	272	1	0	0	0	0	1	0	0	0	11981	1087	38	1	919	1	PKN3	9	131475388	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	120106	131475388	9738043	1021	136132											
ZER1	10444	broad.mit.edu	37	chr9	131515484	131515484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacccggatgtggtcgtcGgacaggtccatgttgtagag	15	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131515484G>A	uc004bwa.1	-	4	1138	c.705C>T	c.(703-705)TCC>TCT	p.S235S		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	235	LRR 1.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TGTGGTCGTCGGACAGGTCCA	0.632													A	131515484	G	A	131515484	2	1	272	1	0	0	0	0	0	0	0	1	17622	1103	39	1		1	ZER1	9	131515484	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	40096	131515484	9697947	1022	136133											
C9orf114	51490	broad.mit.edu	37	chr9	131587086	131587087	+	Frame_Shift_Del	DEL	AG	AG	-													tcggacggtgtagccccagtAgagaccagctttggtgcgag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131587085_131587086TAG>T	uc004bwd.3	-	8	816_817	c.775_776CTA>A	c.(775-777)tacfs	p.Y259fs		NM_016390	NP_057474	Q5T280	CI114_HUMAN	Homo sapiens chromosome 9 open reading frame 114 (C9orf114), mRNA.	259										kidney(2)|large_intestine(4)|ovary(1)	7						GTAGCCCCAGTAGAGACCAGCT	0.564													-	131587087	AG	-	131587086	7	5	272	1	0	1	0	1	0	0	0	0	2449	420	15	0	371	0	C9orf114	9	131587086	Frame_Shift_Del	DEL	AG	TCGA-HU-A4GQ-01A-11D-A25D-08	71602	131587086	9626345	1023	136134											
LAMC3	10319	broad.mit.edu	37	chr9	133945082	133945082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgctccccactgggcGctgcctcggcccagtgccac	13	18	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:133945082G>A	uc004caa.1	+	17	3012	c.2914G>A	c.(2914-2916)GCT>ACT	p.A972T		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	972	Laminin EGF-like 11.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCACTGGGCGCTGCCTCGGC	0.667													A	133945082	G	A	133945082	3	1	272	1	0	0	0	0	1	0	0	0	8616	1087	38	1	2980	1	LAMC3	9	133945082	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2357996	133945082	7268349	1024	136135											
NUP214	8021	broad.mit.edu	37	chr9	134003063	134003065	+	In_Frame_Del	DEL	TCT	TCT	-													cagatttttcctactaaaaaTcttcttattcaaaataaacc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:134003062_134003064ATCT>A	uc004cag.3	+	1	308_310	c.197_199ATCT>A	c.(196-201)aatctt>aAtt	p.L68del	NUP214_uc004cah.3_In_Frame_Del_p.L68del|NUP214_uc004caf.1_In_Frame_Del_p.L68del	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	68					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	p.L68F(1)|p.N66S(1)		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)		CCTACTAAAAATCTTCTTATTCA	0.443			T	"DEK, SET, ABL1"	"AML, T-ALL"								-	134003065	TCT	-	134003063	7	5	272	1	0	1	0	1	0	0	0	0	10762	1432	50	0	204	0	NUP214	9	134003063	In_Frame_Del	DEL	TCT	TCGA-HU-A4GQ-01A-11D-A25D-08	57981	134003063	7210368	1025	136136											
BAT2L1	84726	broad.mit.edu	37	chr9	134351152	134351152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccccggctgagcaattgCgggtatggacggagaacctt	13	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:134351152C>T	uc004can.3	+	15	3691	c.3636C>T	c.(3634-3636)TGC>TGT	p.C1212C	BAT2L1_uc010mzj.1_Silent_p.C795C|BAT2L1_uc004cao.3_Silent_p.C570C	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1212							protein binding				0						TGAGCAATTGCGGGTATGGAC	0.617													T	134351152	C	T	134351152	2	4	272	1	0	0	0	0	0	0	0	1	1320	776	27	1		1	BAT2L1	9	134351152	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	348089	134351152	6862279	1026	136137											
NTNG2	84628	broad.mit.edu	37	chr9	135102326	135102326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccaccggccccgactgCggcaagtgcaagaagaattt	10	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:135102326C>T	uc004cbh.2	+	4	1724	c.948C>T	c.(946-948)TGC>TGT	p.C316C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	316	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCCGACTGCGGCAAGTGCA	0.677													T	135102326	C	T	135102326	2	4	272	1	0	0	0	0	0	0	0	1	10705	776	27	1		1	NTNG2	9	135102326	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	751174	135102326	6111105	1027	136138											
NTNG2	84628	broad.mit.edu	37	chr9	135102359	135102359	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaatttccgcacccggtcCtggcgggccggctcctacct	11	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:135102359C>A	uc004cbh.2	+	4	1757	c.981C>A	c.(979-981)TCC>TCA	p.S327S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	327	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACCCGGTCCTGGCGGGCCG	0.667													A	135102359	C	A	135102359	2	1	272	1	0	0	0	0	0	0	0	1	10705	668	24	5		5	NTNG2	9	135102359	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	33	135102359	6111072	1028	136139											
NTNG2	84628	broad.mit.edu	37	chr9	135116378	135116378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgagggcgcggcggGccccaagtgcgacgactgcc	18	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:135116378G>T	uc004cbh.2	+	7	2080	c.1304G>T	c.(1303-1305)GGC>GTC	p.G435V		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	435	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCGCGGCGGGCCCCAAGTGC	0.687													T	135116378	G	T	135116378	3	4	272	1	0	0	0	0	1	0	0	0	10705	1203	42	5	1326	5	NTNG2	9	135116378	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	14019	135116378	6097053	1029	136140											
ADAMTS13	11093	broad.mit.edu	37	chr9	136308546	136308546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctcctgtgggggcggcCtgcgggagcggccagtgcgc	20	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:136308546C>A	uc004cdv.3	+	19	2728	c.2284C>A	c.(2284-2286)CTG>ATG	p.L762M	ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.L762M|ADAMTS13_uc004cdu.1_Missense_Mutation_p.L731M|ADAMTS13_uc004cdw.3_Missense_Mutation_p.L762M|ADAMTS13_uc004cdx.3_Missense_Mutation_p.L731M|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Missense_Mutation_p.L432M|ADAMTS13_uc004cds.1_Missense_Mutation_p.L287M|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	762	TSP type-1 3.				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)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGGGGCGGCCTGCGGGAGCG	0.726													A	136308546	C	A	136308546	3	1	272	1	0	0	0	0	1	0	0	0	258	680	24	5	2358	5	ADAMTS13	9	136308546	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1192168	136308546	4904885	1030	136141											
COL5A1	1289	broad.mit.edu	37	chr9	137696842	137696842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacccaggccctgcaggcCtccctgggaaagatggccct	13	15	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:137696842C>A	uc004cfe.2	+	40	3518	c.3136C>A	c.(3136-3138)CTC>ATC	p.L1046I		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1046	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		CCCTGCAGGCCTCCCTGGGAA	0.617													A	137696842	C	A	137696842	3	1	272	1	0	0	0	0	1	0	0	0	3696	681	24	5	3294	5	COL5A1	9	137696842	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1388296	137696842	3516589	1031	136142											
CARD9	64170	broad.mit.edu	37	chr9	139265589	139265589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtcaggcctgactcccCggacgcgtctgtgggccagg	15	14	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139265589C>T	uc004chg.3	-	4	497	c.331G>A	c.(331-333)GGG>AGG	p.G111R	CARD9_uc011mdw.1_Missense_Mutation_p.G111R|CARD9_uc011mdx.1_Missense_Mutation_p.G7R|CARD9_uc010nbj.2_Missense_Mutation_p.G111R	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	111					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCTGACTCCCCGGACGCGTCT	0.627													T	139265589	C	T	139265589	3	4	272	1	0	0	0	0	1	0	0	0	2652	652	23	1	1372	1	CARD9	9	139265589	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1568747	139265589	1947842	1032	136143											
SNAPC4	6621	broad.mit.edu	37	chr9	139273210	139273210	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgggggcctgagactgtccGagaccactctcggggcagct	16	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139273210G>A	uc004chh.2	-	21	3078	c.3069C>T	c.(3067-3069)CTC>CTT	p.L1023L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1023	Pro-rich.				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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GAGACTGTCCGAGACCACTCT	0.711													A	139273210	G	A	139273210	2	1	272	1	0	0	0	0	0	0	0	1	14837	1045	37	1		1	SNAPC4	9	139273210	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7621	139273210	1940221	1033	136144											
INPP5E	56623	broad.mit.edu	37	chr9	139326317	139326317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtcgtgctgcagcagcGccggcacgtccaccaccagg	14	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139326317G>A	uc004cho.2	-	7	1893	c.1508C>T	c.(1507-1509)GCG>GTG	p.A503V	INPP5E_uc010nbm.2_Missense_Mutation_p.A502V	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	503						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CTGCAGCAGCGCCGGCACGTC	0.562													A	139326317	G	A	139326317	3	1	272	1	0	0	0	0	1	0	0	0	7757	1087	38	1	442	1	INPP5E	9	139326317	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	53107	139326317	1887114	1034	136145											
SEC16A	9919	broad.mit.edu	37	chr9	139342121	139342121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgaggttggaggtgggggCggggctttcttctgcagagg	20	6	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139342121C>T	uc004chx.2	-	26	6768	c.6459G>A	c.(6457-6459)CCG>CCA	p.P2153P	SEC16A_uc004chp.2_5'Flank|SEC16A_uc004chq.2_5'UTR|SEC16A_uc011mea.1_5'UTR|SEC16A_uc004chr.2_Silent_p.P159P|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Silent_p.P184P|SEC16A_uc004chu.2_Silent_p.P338P|SEC16A_uc004chv.3_Silent_p.P1543P|SEC16A_uc004chw.2_Silent_p.P2153P|SEC16A_uc010nbn.2_Silent_p.P2153P	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1975	Required for interaction with SEC23A.|Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGGTGGGGGCGGGGCTTTCT	0.607													T	139342121	C	T	139342121	2	4	272	1	0	0	0	0	0	0	0	1	13986	755	27	1		1	SEC16A	9	139342121	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	15804	139342121	1871310	1035	136146											
LCN6	158062	broad.mit.edu	37	chr9	139639702	139639702	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catagtctctgaagttggtgGccagcacccagagctccagc	11	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139639702G>C	uc004ciy.2	-	4	377	c.332C>G	c.(331-333)GCC>GGC	p.A111G	LCN10_uc004civ.2_5'Flank|LCN10_uc011med.1_5'Flank|LCN10_uc010nbq.2_5'Flank|LCN10_uc011mee.1_5'Flank|LCN10_uc011mef.1_5'Flank|LCN10_uc004ciw.2_RNA|uc004ciz.1_5'Flank	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	111					single fertilization	extracellular region	binding				0	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)		GAAGTTGGTGGCCAGCACCCA	0.597													C	139639702	G	C	139639702	3	2	272	1	0	0	0	0	1	0	0	0	8685	1203	42	5	167	5	LCN6	9	139639702	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	297581	139639702	1573729	1036	136147											
ABCA2	20	broad.mit.edu	37	chr9	139909513	139909513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggagcagctgctcagcGgggcccgacctggggggctg	19	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139909513G>A	uc011mem.1	-	24	3879	c.3731C>T	c.(3730-3732)CCG>CTG	p.P1244L	ABCA2_uc011mel.1_Missense_Mutation_p.P1245L|ABCA2_uc004ckl.1_Missense_Mutation_p.P1175L|ABCA2_uc004ckm.1_Missense_Mutation_p.P1275L|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1244					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				0	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)		GCTGCTCAGCGGGGCCCGACC	0.657													A	139909513	G	A	139909513	3	1	272	1	0	0	0	0	1	0	0	0	32	1116	39	1	3676	1	ABCA2	9	139909513	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	269811	139909513	1303918	1037	136148											
GRIN1	2902	broad.mit.edu	37	chr9	140051349	140051349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatcaacggcaagaaCgagtcggcccacatcagcga	10	14	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140051349C>T	uc004clk.2	+	6	1158	c.828C>T	c.(826-828)AAC>AAT	p.N276N	GRIN1_uc004cli.1_Translation_Start_Site|GRIN1_uc004clj.1_Silent_p.N273N|GRIN1_uc004cll.2_Silent_p.N276N|GRIN1_uc004clm.2_Silent_p.N276N|GRIN1_uc004cln.2_Silent_p.N294N|GRIN1_uc004clo.2_Silent_p.N294N	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	276	Extracellular (Potential).				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			skin(1)	1	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)	ACGGCAAGAACGAGTCGGCCC	0.701													T	140051349	C	T	140051349	2	4	272	1	0	0	0	0	0	0	0	1	6778	535	19	1		1	GRIN1	9	140051349	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	141836	140051349	1162082	1038	136149											
TMEM203	94107	broad.mit.edu	37	chr9	140099695	140099695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagtaggtgctgagccCgtcagcggcgaagaaaggca	17	8	1	3	rs11545809		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140099695C>T	uc004clv.2	-	1	396	c.172G>A	c.(172-174)GGG>AGG	p.G58R	NDOR1_uc004clx.2_5'Flank|NDOR1_uc004clw.2_5'Flank|NDOR1_uc011mes.1_5'Flank|NDOR1_uc004cly.2_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	transmembrane protein 203	58	Helical; (Potential).					integral to membrane					0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTGCTGAGCCCGTCAGCGGCG	0.627													T	140099695	C	T	140099695	3	4	272	1	0	0	0	0	1	0	0	0	16125	652	23	1	242	1	TMEM203	9	140099695	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	48346	140099695	1113736	1039	136150											
C9orf173	441476	broad.mit.edu	37	chr9	140147690	140147690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacacaggccccttctgcaCgctctagagccagctgggca	11	16	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140147690C>T	uc004cmk.1	+	6	945	c.933C>T	c.(931-933)CAC>CAT	p.H311H	C9orf173_uc004cmj.1_Missense_Mutation_p.T307M|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.T251M|C9orf173_uc004cml.1_Silent_p.H256H|COBRA1_uc004cmm.3_5'Flank			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	315										pancreas(1)	1						CCCTTCTGCACGCTCTAGAGC	0.677													T	140147690	C	T	140147690	2	4	272	1	0	0	0	0	0	0	0	1	2472	536	19	1		1	C9orf173	9	140147690	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	47995	140147690	1065741	1040	136151											
C9orf167	54863	broad.mit.edu	37	chr9	140174021	140174021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccaccacttccacaacGccatctacgtgctcctcagt	5	19	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140174021G>A	uc004cmn.2	+	2	997	c.880G>A	c.(880-882)GCC>ACC	p.A294T	C9orf167_uc011mew.1_5'Flank	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	hypothetical protein LOC54863	294					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity			pancreas(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)		CTTCCACAACGCCATCTACGT	0.711													A	140174021	G	A	140174021	3	1	272	1	0	0	0	0	1	0	0	0	2468	1087	38	1	882	1	C9orf167	9	140174021	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	26331	140174021	1039410	1041	136152											
ENTPD8	377841	broad.mit.edu	37	chr9	140329730	140329730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggagggtgaggatgtAcaggcctgaggcacagtagt	18	6	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140329730A>G	uc004cmw.2	-	9	1406	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.Y371H	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	408	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTGAGGATGTACAGGCCTGAG	0.687													G	140329730	A	G	140329730	3	3	272	1	0	0	0	0	1	0	0	0	5145	391	14	3	273	3	ENTPD8	9	140329730	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	155709	140329730	883701	1042	136153											
PNPLA7	375775	broad.mit.edu	37	chr9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-													agggtgctgtagctgtcgatGggggggcgcaggtactcgca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					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)		TAGCTGTCGATGGGGGGGCGC	0.652													-	140356679	G	-	140356679	7	5	272	1	0	1	0	1	0	0	0	0	12170	1335	47	0	451	0	PNPLA7	9	140356679	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	26949	140356679	856752	1043	136154											
FBXO18	84893	broad.mit.edu	37	chr10	5966457	5966457	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaatgccatatagaagAtttggactttgcaggtaagg	11	4	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:5966457A>T	uc001iis.2	+	17	2677	c.2582A>T	c.(2581-2583)GAT>GTT	p.D861V	FBXO18_uc001iir.2_Missense_Mutation_p.D787V|FBXO18_uc009xig.2_Missense_Mutation_p.D787V|FBXO18_uc001iit.2_Missense_Mutation_p.D912V	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	861					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CATATAGAAGATTTGGACTTT	0.398													T	5966457	A	T	5966457	3	4	272	1	0	0	0	0	1	0	0	0	5731	333	12	5	2810	5	FBXO18	10	5966457	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08		5966457	129568290	1044	136155											
IL15RA	3601	broad.mit.edu	37	chr10	6008297	6008297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggggggagggcacgTgatgcctgcgaaagtgcaga	19	7	0	2	rs141286489		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:6008297T>G	uc001iiv.2	-	2	176	c.94A>C	c.(94-96)ACG>CCG	p.T32P	IL15RA_uc010qau.1_Missense_Mutation_p.T32P|IL15RA_uc001iiw.2_5'UTR|IL15RA_uc001iix.2_5'UTR|IL15RA_uc001iiy.2_Intron	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	32	Sushi.|Extracellular (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0						GGAGGGCACGTGATGCCTGCG	0.557													G	6008297	T	G	6008297	3	3	272	1	0	0	0	0	1	0	0	0	7632	1696	59	5	733	5	IL15RA	10	6008297	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	41840	6008297	129526450	1045	136156											
GATA3	2625	broad.mit.edu	37	chr10	8100746	8100746	+	Frame_Shift_Del	DEL	G	G	-													ttcccccccagcagcctgctGggcggctcccccaccggctt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:8100745_8100745TG>T	uc001ijz.3	+	2	1276	c.719_719TG>T	c.(718-720)ctgfs	p.L240fs	GATA3_uc001ika.3_Frame_Shift_Del_p.L240fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	240					T cell receptor signaling pathway|TOR signaling cascade|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 T cell differentiation|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 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|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	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|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|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						AGCAGCCTGCTGGGCGGCTCC	0.687			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						-	8100746	G	-	8100746	7	5	272	1	0	1	0	1	0	0	0	0	6255	1335	47	0	726	0	GATA3	10	8100746	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2092449	8100746	127434001	1046	136157											
USP6NL	9712	broad.mit.edu	37	chr10	11504982	11504982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcaaagctgctgttggCagtagggaagtgtttgggag	17	4	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:11504982C>T	uc001ikt.3	-	15	2266	c.1945G>A	c.(1945-1947)GCC>ACC	p.A649T	USP6NL_uc001iks.1_Missense_Mutation_p.A666T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	649						intracellular	Rab GTPase activator activity				0						CTGCTGTTGGCAGTAGGGAAG	0.557													T	11504982	C	T	11504982	3	4	272	1	0	0	0	0	1	0	0	0	17084	710	25	2	545	2	USP6NL	10	11504982	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3404236	11504982	124029765	1047	136158											
MCM10	55388	broad.mit.edu	37	chr10	13237117	13237117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccctgctcagcctccaCggacaggatccgagttcccc	9	19	1	0	rs74881009		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:13237117C>T	uc001ima.2	+	14	1926	c.1825C>T	c.(1825-1827)CGG>TGG	p.R609W	MCM10_uc001imb.2_Missense_Mutation_p.R608W|MCM10_uc001imc.2_Missense_Mutation_p.R608W	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	609					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			ovary(2)|central_nervous_system(1)	3						TCAGCCTCCACGGACAGGATC	0.532													T	13237117	C	T	13237117	3	4	272	1	0	0	0	0	1	0	0	0	9385	527	19	1	1875	1	MCM10	10	13237117	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1732135	13237117	122297630	1048	136159											
BEND7	222389	broad.mit.edu	37	chr10	13523008	13523008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcttgtcatcaaaaaaCgcacacaccagttttctaaa	4	10	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:13523008C>T	uc001imm.2	-	6	1095	c.798G>A	c.(796-798)GCG>GCA	p.A266A	BEND7_uc001imn.2_Silent_p.A27A|BEND7_uc001imo.3_Silent_p.A279A	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	318	BEN.						protein binding			ovary(1)|breast(1)	2						CATCAAAAAACGCACACACCA	0.433													T	13523008	C	T	13523008	2	4	272	1	0	0	0	0	0	0	0	1	1403	523	19	1		1	BEND7	10	13523008	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	285891	13523008	122011739	1049	136160											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	272	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	173444	13696452	121838295	1050	136161											
ST8SIA6	338596	broad.mit.edu	37	chr10	17365073	17365073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctacttacttcagagttAtgatgcttggatttatagtc	8	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17365073A>G	uc001ipd.2	-	7	719	c.719T>C	c.(718-720)ATA>ACA	p.I240T	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	240	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CTTCAGAGTTATGATGCTTGG	0.368													G	17365073	A	G	17365073	3	3	272	1	0	0	0	0	1	0	0	0	15235	449	16	3	485	3	ST8SIA6	10	17365073	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3668621	17365073	118169674	1051	136162											
PTPLA	9200	broad.mit.edu	37	chr10	17636321	17636321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacatgcggcaaggcagCgtatattgtaagaagttcac	10	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17636321C>T	uc001ipg.2	-	6	702	c.667G>A	c.(667-669)GCT>ACT	p.A223T		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	223	Lumenal (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						GGCAAGGCAGCGTATATTGTA	0.313													T	17636321	C	T	17636321	3	4	272	1	0	0	0	0	1	0	0	0	12774	768	27	1	207	1	PTPLA	10	17636321	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	271248	17636321	117898426	1052	136163											
PTPLA	9200	broad.mit.edu	37	chr10	17636370	17636371	+	Frame_Shift_Ins	INS	-	-	A													caacaggatataagatgataINSaaaaaattatatctggagaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17636369_17636370T>TA	uc001ipg.3	-	5	653_654	c.618_619A>TA	c.(616-621)tttatcfs	p.F206fs		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	Homo sapiens protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A (PTPLA), mRNA.	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						TATAAGATGATAAAAAAATTAT	0.312													A	17636371	-	A	17636370	7	5	272	1	0	1	1	0	0	0	0	0	12774	359	13	0	256	0	PTPLA	10	17636370	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	49	17636370	117898377	1053	136164											
STAM	8027	broad.mit.edu	37	chr10	17742261	17742261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagaaccagagccggaaCcagcctttattgatgaagta	9	9	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17742261C>T	uc001ipj.1	+	9	1111	c.895C>T	c.(895-897)CCA>TCA	p.P299S	STAM_uc010qcf.1_Missense_Mutation_p.P188S|STAM_uc009xjw.1_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	299					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	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						AGAGCCGGAACCAGCCTTTAT	0.328													T	17742261	C	T	17742261	3	4	272	1	0	0	0	0	1	0	0	0	15247	507	18	4	929	4	STAM	10	17742261	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	105891	17742261	117792486	1054	136165											
SLC39A12	221074	broad.mit.edu	37	chr10	18242200	18242200	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcaaggtggaggaagcGtggaaatgtgcttccggaca	15	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:18242200G>A	uc001ipo.2	+	2	268	c.-5G>A	c.(-7--3)GCGTG>GCATG		SLC39A12_uc001ipn.2_Translation_Start_Site|SLC39A12_uc001ipp.2_Translation_Start_Site|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TGGAGGAAGCGTGGAAATGTG	0.468													A	18242200	G	A	18242200	1	1	272	1	0	0	0	0	0	0	0	0	14615	1160	40	1		1	SLC39A12	10	18242200	Translation_Start_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	499939	18242200	117292547	1055	136166											
PLXDC2	84898	broad.mit.edu	37	chr10	20290771	20290771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaagttgattcacacgcGtacagccacaggtggaaaag	13	8	1	1	rs149037714		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:20290771G>A	uc001iqg.1	+	2	817	c.180G>A	c.(178-180)GCG>GCA	p.A60A	PLXDC2_uc001iqh.1_Silent_p.A60A	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	60	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						ATTCACACGCGTACAGCCACA	0.502													A	20290771	G	A	20290771	2	1	272	1	0	0	0	0	0	0	0	1	12118	1132	40	1		1	PLXDC2	10	20290771	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2048571	20290771	115243976	1056	136167											
DNAJC1	64215	broad.mit.edu	37	chr10	22048331	22048331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctctggctccggcttcGctgtagcctccagcagcctg	10	17	2	0	rs141146821		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:22048331G>A	uc001irc.2	-	11	1651	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V	DNAJC1_uc001ird.2_Missense_Mutation_p.A341V	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	455	Cytoplasmic (By similarity).				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			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCCGGCTTCGCTGTAGCCTC	0.632													A	22048331	G	A	22048331	3	1	272	1	0	0	0	0	1	0	0	0	4628	1087	38	1	308	1	DNAJC1	10	22048331	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1757560	22048331	113486416	1057	136168											
PIP4K2A	5305	broad.mit.edu	37	chr10	22880669	22880669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgagctccactgcgggcCtgggagtcgttggggagggg	19	9	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:22880669C>A	uc001irl.3	-	4	629	c.381G>T	c.(379-381)CAG>CAT	p.Q127H	PIP4K2A_uc010qcu.1_Translation_Start_Site	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	127	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						CACTGCGGGCCTGGGAGTCGT	0.532													A	22880669	C	A	22880669	3	1	272	1	0	0	0	0	1	0	0	0	11936	680	24	5	867	5	PIP4K2A	10	22880669	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	832338	22880669	112654078	1058	136169											
ENKUR	219670	broad.mit.edu	37	chr10	25284792	25284792	+	Frame_Shift_Del	DEL	T	T	-													tgggcacgttccgatcaaagTttttttctgttaaatataac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:25284791_25284791GT>G	uc001isg.1	-	2	396	c.231_231AC>C	c.(229-231)aacfs	p.N77fs	ENKUR_uc001ish.1_Frame_Shift_Del_p.N15fs	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	77						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TCCGATCAAAGTTTTTTTCTG	0.323													-	25284792	T	-	25284792	7	5	272	1	0	1	0	1	0	0	0	0	5120	1725	60	0	556	0	ENKUR	10	25284792	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2404123	25284792	110249955	1059	136170											
MYO3A	53904	broad.mit.edu	37	chr10	26315378	26315378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaattcattactcaaatTgagggcaaagatgtgatgct	8	6	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:26315378T>C	uc001isn.2	+	10	1230	c.870T>C	c.(868-870)ATT>ATC	p.I290I	MYO3A_uc009xko.1_Silent_p.I290I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.I290I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	290					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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TTACTCAAATTGAGGGCAAAG	0.378													C	26315378	T	C	26315378	2	2	272	1	0	0	0	0	0	0	0	1	10076	1800	63	3		3	MYO3A	10	26315378	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1030586	26315378	109219369	1060	136171											
MYO3A	53904	broad.mit.edu	37	chr10	26500869	26500869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcaaaacctcccagcgcCggcgcctcgtccagcagtcc	10	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:26500869C>T	uc001isn.2	+	35	5188	c.4828C>T	c.(4828-4830)CGG>TGG	p.R1610W	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.P625L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1610					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			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						CTCCCAGCGCCGGCGCCTCGT	0.687													T	26500869	C	T	26500869	3	4	272	1	0	0	0	0	1	0	0	0	10076	643	23	1	4958	1	MYO3A	10	26500869	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	185491	26500869	109033878	1061	136172											
ITGB1	3688	broad.mit.edu	37	chr10	33218834	33218834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctgttcctttgctacGgttggttacatttttatttt	7	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:33218834G>A	uc001iws.3	-	4	428	c.292C>T	c.(292-294)CGT>TGT	p.R98C	ITGB1_uc001iwp.3_Missense_Mutation_p.R98C|ITGB1_uc001iwq.3_Missense_Mutation_p.R98C|ITGB1_uc001iwr.3_Missense_Mutation_p.R98C|ITGB1_uc001iwt.3_Missense_Mutation_p.R98C|ITGB1_uc001iwu.1_Missense_Mutation_p.R98C	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	98	Extracellular (Potential).				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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CCTTTGCTACGGTTGGTTACA	0.408													A	33218834	G	A	33218834	3	1	272	1	0	0	0	0	1	0	0	0	7890	1116	39	1	2394	1	ITGB1	10	33218834	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6717965	33218834	102315913	1062	136173											
ZNF37A	7587	broad.mit.edu	37	chr10	38406962	38406962	+	Frame_Shift_Del	DEL	G	G	-													gacatcagagaacacacacaGggggaaaaccctatgaatgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:38406961_38406961AG>A	uc001izk.3	+	7	1712	c.882_882AG>A	c.(880-882)acafs	p.T294fs	ZNF37A_uc001izl.3_Frame_Shift_Del_p.T294fs|ZNF37A_uc001izm.3_Frame_Shift_Del_p.T294fs	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	294						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T294fs*6(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACACACACAGGGGGAAAAC	0.408													-	38406962	G	-	38406962	7	5	272	1	0	1	0	1	0	0	0	0	17869	1000	35	0	897	0	ZNF37A	10	38406962	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5188128	38406962	97127785	1063	136174											
RBP3	5949	broad.mit.edu	37	chr10	48388554	48388554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgatcaccagcgcagccGtgtccaccagctgttgccat	11	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:48388554G>A	uc001jez.2	-	1	2438	c.2324C>T	c.(2323-2325)ACG>ATG	p.T775M		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	775	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CAGCGCAGCCGTGTCCACCAG	0.637													A	48388554	G	A	48388554	3	1	272	1	0	0	0	0	1	0	0	0	13157	1145	40	1	1435	1	RBP3	10	48388554	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9981592	48388554	87146193	1064	136175											
C10orf128	170371	broad.mit.edu	37	chr10	50374922	50374922	+	Frame_Shift_Del	DEL	C	C	-													cacatccctcaccactgaggCccccaggcgtgcttttcagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:50374921_50374921GC>G	uc010qgo.2	-	2	257	c.231_231GC>C	c.(229-231)ggcfs	p.G77fs	C10orf128_uc001jhl.4_Non-coding_Transcript|C10orf128_uc001jhn.4_Frame_Shift_Del_p.G77fs|C10orf128_uc001jho.4_Frame_Shift_Del_p.G77fs			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	77						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CACCACTGAGGCCCCCAGGCG	0.602													-	50374922	C	-	50374922	7	5	272	1	0	1	0	1	0	0	0	0	1592	739	26	0	103	0	C10orf128	10	50374922	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1986368	50374922	85159825	1065	136176											
ERCC6	2074	broad.mit.edu	37	chr10	50691467	50691467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagatcacatagtgccaGtcatacctgctaatgtcatc	6	12	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:50691467G>A	uc001jhs.3	-	9	2071	c.1917C>T	c.(1915-1917)GAC>GAT	p.D639D	ERCC6_uc010qgr.1_Silent_p.D9D|ERCC6_uc001jhr.3_Silent_p.D39D	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	639	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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CATAGTGCCAGTCATACCTGC	0.418								Direct_reversal_of_damage|NER					A	50691467	G	A	50691467	2	1	272	1	0	0	0	0	0	0	0	1	5217	1020	36	4		4	ERCC6	10	50691467	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	316545	50691467	84843280	1066	136177											
PCDH15	65217	broad.mit.edu	37	chr10	55583033	55583033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatagtattggaagaaaAgggcatcacaacttgttgat	9	6	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:55583033A>G	uc001jju.1	-	33	4848	c.4453T>C	c.(4453-4455)TTT>CTT	p.F1485L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.F1482L|PCDH15_uc010qhw.1_Missense_Mutation_p.F1445L|PCDH15_uc010qhx.1_Missense_Mutation_p.F1416L|PCDH15_uc010qhy.1_Missense_Mutation_p.F1492L|PCDH15_uc010qhz.1_Missense_Mutation_p.F1487L|PCDH15_uc010qia.1_Missense_Mutation_p.F1465L|PCDH15_uc010qib.1_Missense_Mutation_p.F1462L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1485	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGAAGAAAAGGGCATCACA	0.383										HNSCC(58;0.16)			G	55583033	A	G	55583033	3	3	272	1	0	0	0	0	1	0	0	0	11511	72	3	3	3024	3	PCDH15	10	55583033	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4891566	55583033	79951714	1067	136178											
RTKN2	219790	broad.mit.edu	37	chr10	63959523	63959523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacttactcatatcatgGtagactgaggttgcctcttt	7	12	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:63959523G>A	uc001jlw.2	-	11	1381	c.1284C>T	c.(1282-1284)TAC>TAT	p.Y428Y	RTKN2_uc009xpf.1_Silent_p.Y230Y|RTKN2_uc001jlv.2_Silent_p.Y82Y	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	428					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCATATCATGGTAGACTGAGG	0.383													A	63959523	G	A	63959523	2	1	272	1	0	0	0	0	0	0	0	1	13723	1256	44	4		4	RTKN2	10	63959523	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	8376490	63959523	71575224	1068	136179											
REEP3	221035	broad.mit.edu	37	chr10	65354563	65354563	+	Frame_Shift_Del	DEL	T	T	-													atggatgatgtactggattgTttttgctctctatactgtga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:65354562_65354562GT>G	uc001jmt.3	+	2	313	c.130_130GT>G	c.(130-132)gttfs	p.V44fs	REEP3_uc009xpl.2_Frame_Shift_Del_p.V44fs	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	Homo sapiens receptor accessory protein 3 (REEP3), mRNA.	44						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTACTGGATTGTTTTTGCTCT	0.348													-	65354563	T	-	65354563	7	5	272	1	0	1	0	1	0	0	0	0	13206	1725	60	0	141	0	REEP3	10	65354563	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1395040	65354563	70180184	1069	136180											
CTNNA3	29119	broad.mit.edu	37	chr10	68940230	68940230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcgtttctctagtgatgGtcgtatttcctcctcagtta	9	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:68940230G>A	uc009xpn.1	-	7	1015	c.892C>T	c.(892-894)CCA>TCA	p.P298S	CTNNA3_uc001jmw.2_Missense_Mutation_p.P298S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P298S|CTNNA3_uc009xpo.1_Missense_Mutation_p.P158S|CTNNA3_uc001jna.2_Missense_Mutation_p.P310S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	298					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TCTAGTGATGGTCGTATTTCC	0.448													A	68940230	G	A	68940230	3	1	272	1	0	0	0	0	1	0	0	0	4014	1261	44	4	1843	4	CTNNA3	10	68940230	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3585667	68940230	66594517	1070	136181											
TET1	80312	broad.mit.edu	37	chr10	70332337	70332337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaagagctggagcagcacGcatgaatttggataggactg	14	7	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:70332337G>A	uc001jok.3	+	2	747	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	81					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GGAGCAGCACGCATGAATTTG	0.438													A	70332337	G	A	70332337	3	1	272	1	0	0	0	0	1	0	0	0	15766	1087	38	1	244	1	TET1	10	70332337	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1392107	70332337	65202410	1071	136182											
DDX50	79009	broad.mit.edu	37	chr10	70706238	70706238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagtggtcgatcaggccGgtcaggccggtcaggtggtc	17	10	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:70706238G>A	uc001jou.2	+	15	2173	c.2066G>A	c.(2065-2067)CGG>CAG	p.R689Q	DDX50_uc010qjc.1_Intron	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	689	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						CGATCAGGCCGGTCAGGCCGG	0.517													A	70706238	G	A	70706238	3	1	272	1	0	0	0	0	1	0	0	0	4368	1116	39	1	2124	1	DDX50	10	70706238	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	373901	70706238	64828509	1072	136183											
ADAMTS14	140766	broad.mit.edu	37	chr10	72498727	72498727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggtgcgatcccgcagcCggagctgcaacaacccctcg	14	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:72498727C>T	uc001jrh.2	+	11	1729	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R580W|ADAMTS14_uc001jri.1_Missense_Mutation_p.R100W	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	577	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						ATCCCGCAGCCGGAGCTGCAA	0.672													T	72498727	C	T	72498727	3	4	272	1	0	0	0	0	1	0	0	0	259	643	23	1	1780	1	ADAMTS14	10	72498727	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1792489	72498727	63036020	1073	136184											
CDH23	64072	broad.mit.edu	37	chr10	73462408	73462408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaacctgccttttgtggCcgaggtgcttgaaggcatcc	12	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:73462408C>T	uc001jrx.3	+	23	3067	c.2690C>T	c.(2689-2691)GCC>GTC	p.A897V	CDH23_uc001jry.2_Missense_Mutation_p.A513V|CDH23_uc001jrz.2_Missense_Mutation_p.A513V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	897	Cadherin 9.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCTTTTGTGGCCGAGGTGCTT	0.572													T	73462408	C	T	73462408	3	4	272	1	0	0	0	0	1	0	0	0	3108	739	26	2	3007	2	CDH23	10	73462408	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	963681	73462408	62072339	1074	136185											
CDH23	64072	broad.mit.edu	37	chr10	73491781	73491781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactaccgcatcctgtcgggCgcagaggggaagtttgagat	14	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:73491781C>T	uc001jrx.3	+	31	4130	c.3753C>T	c.(3751-3753)GGC>GGT	p.G1251G	CDH23_uc001jrz.2_Silent_p.G867G|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Silent_p.G59G	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1251	Cadherin 12.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCCTGTCGGGCGCAGAGGGGA	0.557													T	73491781	C	T	73491781	2	4	272	1	0	0	0	0	0	0	0	1	3108	755	27	1		1	CDH23	10	73491781	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	29373	73491781	62042966	1075	136186											
CDH23	64072	broad.mit.edu	37	chr10	73501579	73501579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcatggaccgcatcagCggtgagatcgccacacggcc	12	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:73501579C>T	uc001jrx.3	+	36	5123	c.4746C>T	c.(4744-4746)AGC>AGT	p.S1582S	CDH23_uc001jsc.1_Silent_p.S389S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1582	Cadherin 15.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACCGCATCAGCGGTGAGATCG	0.632													T	73501579	C	T	73501579	2	4	272	1	0	0	0	0	0	0	0	1	3108	767	27	1		1	CDH23	10	73501579	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	9798	73501579	62033168	1076	136187											
PLAU	5328	broad.mit.edu	37	chr10	75673765	75673765	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaagaaggaggactacatCgtctacctgggtcgctcaag	11	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:75673765C>T	uc001jwa.2	+	8	854	c.708C>T	c.(706-708)ATC>ATT	p.I236I	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Silent_p.I219I|PLAU_uc010qkx.1_Silent_p.I150I|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Silent_p.I236I|PLAU_uc009xrq.1_Silent_p.I200I	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	236	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			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGGACTACATCGTCTACCTGG	0.507													T	75673765	C	T	75673765	2	4	272	1	0	0	0	0	0	0	0	1	12022	874	31	1		1	PLAU	10	75673765	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2172186	75673765	59860982	1077	136188											
MYST4	23522	broad.mit.edu	37	chr10	76789460	76789460	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctctggaaaacagctaCgcccaaatcagcccagatca	7	15	3	1	rs146568876		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:76789460C>A	uc001jwn.1	+	18	5371	c.4878C>A	c.(4876-4878)TAC>TAA	p.Y1626*	MYST4_uc001jwo.1_Nonsense_Mutation_p.Y1334*|MYST4_uc001jwp.1_Nonsense_Mutation_p.Y1443*	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1626	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AAAACAGCTACGCCCAAATCA	0.527			T	CREBBP	AML								A	76789460	C	A	76789460	4	1	272	1	0	0	0	0	0	1	0	0	10105	547	19	5	4940	5	MYST4	10	76789460	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1115695	76789460	58745287	1078	136189											
ANXA11	311	broad.mit.edu	37	chr10	81917463	81917463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgatgtccaggaggtcGgtctcgctgcgagacaccat	13	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:81917463G>A	uc001kbq.1	-	16	2217	c.1392C>T	c.(1390-1392)ACC>ACT	p.T464T	ANXA11_uc010qlx.1_Silent_p.T564T|ANXA11_uc001kbr.1_Silent_p.T464T|ANXA11_uc001kbs.1_Silent_p.T464T|ANXA11_uc001kbt.1_Silent_p.T464T|ANXA11_uc010qly.1_Silent_p.T431T|ANXA11_uc009xsq.1_Silent_p.T468T|ANXA11_uc001kbu.1_Silent_p.T464T	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	464	Annexin 4.				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCAGGAGGTCGGTCTCGCTGC	0.587													A	81917463	G	A	81917463	2	1	272	1	0	0	0	0	0	0	0	1	716	1103	39	1		1	ANXA11	10	81917463	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5128003	81917463	53617284	1079	136190											
NRG3	10718	broad.mit.edu	37	chr10	84745202	84745202	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccgaattctgactgatgcCagacggtcagaagactacga	10	10	2	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:84745202C>A	uc001kco.2	+	9	1959	c.1932C>A	c.(1930-1932)GCC>GCA	p.A644A	NRG3_uc010qlz.1_Silent_p.A643A|NRG3_uc001kcp.2_Silent_p.A447A|NRG3_uc001kcq.2_Silent_p.A294A|NRG3_uc001kcr.2_Silent_p.A318A	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	668	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGACTGATGCCAGACGGTCAG	0.478													A	84745202	C	A	84745202	2	1	272	1	0	0	0	0	0	0	0	1	10649	581	21	5		5	NRG3	10	84745202	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2827739	84745202	50789545	1080	136191											
BMPR1A	657	broad.mit.edu	37	chr10	88659627	88659627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccagtatttgcaacccaCactgccccctgttgtcatag	6	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:88659627C>T	uc001kdy.2	+	6	958	c.410C>T	c.(409-411)ACA>ATA	p.T137I		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	137	Extracellular (Potential).				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			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						TTGCAACCCACACTGCCCCCT	0.423			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				T	88659627	C	T	88659627	3	4	272	1	0	0	0	0	1	0	0	0	1469	478	17	4	424	4	BMPR1A	10	88659627	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3914425	88659627	46875120	1081	136192											
MMRN2	79812	broad.mit.edu	37	chr10	88702881	88702881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcccgcgcccgctcgcCctccgctttgtgcgcgtcca	12	21	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:88702881C>A	uc001kea.2	-	6	1787	c.1660G>T	c.(1660-1662)GGC>TGC	p.G554C	MMRN2_uc010qmn.1_Missense_Mutation_p.G197C|MMRN2_uc009xtb.2_Missense_Mutation_p.G511C	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	554	Potential.					extracellular space				large_intestine(1)	1						GCCCGCTCGCCCTCCGCTTTG	0.766													A	88702881	C	A	88702881	3	1	272	1	0	0	0	0	1	0	0	0	9671	623	22	5	1197	5	MMRN2	10	88702881	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	43254	88702881	46831866	1082	136193											
STAMBPL1	57559	broad.mit.edu	37	chr10	90665312	90665312	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgaagacatcactcCacgacgttactttaggtctg	8	11	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:90665312C>A	uc001kfk.2	+	3	566	c.143C>A	c.(142-144)CCA>CAA	p.P48Q	STAMBPL1_uc010qmx.1_Missense_Mutation_p.P48Q|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.P48Q|STAMBPL1_uc001kfm.2_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	48							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GACATCACTCCACGACGTTAC	0.433													A	90665312	C	A	90665312	3	1	272	1	0	0	0	0	1	0	0	0	15250	594	21	5	149	5	STAMBPL1	10	90665312	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1962431	90665312	44869435	1083	136194											
TNKS2	80351	broad.mit.edu	37	chr10	93610997	93610998	+	Frame_Shift_Ins	INS	-	-	T													tttggatgtattagttgagaINStggggcacaaggagctgaag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:93610997_93610998insT	uc001khp.2	+	21	3016_3017	c.2719_2720insT	c.(2719-2721)ATGfs	p.M907fs		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	907	SAM.				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			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				ATTAGTTGAGATGGGGCACAAG	0.371													T	93610998	-	T	93610997	7	5	272	1	0	1	1	0	0	0	0	0	16318	333	12	0	2801	0	TNKS2	10	93610997	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	2945685	93610997	41923750	1084	136195	706	2									
TNKS2	80351	broad.mit.edu	37	chr10	93610998	93610999	+	Frame_Shift_Ins	INS	-	-	T													ttggatgtattagttgagatINSggggcacaaggagctgaagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:93610997_93610998A>AT	uc001khp.3	+	20	3016_3017	c.2719_2720A>AT	c.(2719-2721)atgfs	p.M907fs		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	907	SAM.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	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)				ATTAGTTGAGATGGGGCACAAG	0.371													T	93610999	-	T	93610998	7	5	272	1	0	1	1	0	0	0	0	0	16318	1464	51	0	2802	0	TNKS2	10	93610998	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	93610998	41923749	1085	136196	706	2									
IDE	3416	broad.mit.edu	37	chr10	94221002	94221002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaaatatgcaacctcAgtgttatctgaaaaagtaat	6	6	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94221002A>G	uc001kia.2	-	22	2845	c.2769T>C	c.(2767-2769)ACT>ACC	p.T923T	IDE_uc010qnp.1_Silent_p.T368T|IDE_uc001khz.2_Silent_p.T368T	NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	923					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			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGCAACCTCAGTGTTATCTG	0.294													G	94221002	A	G	94221002	2	3	272	1	0	0	0	0	0	0	0	1	7493	175	7	3		3	IDE	10	94221002	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	610004	94221002	41313745	1086	136197											
IDE	3416	broad.mit.edu	37	chr10	94294479	94294480	+	Frame_Shift_Ins	INS	-	-	A													agggtatttctttgttcccaINSaaaaaagcatatgttcacaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94294478_94294479C>CA	uc001kia.3	-	2	423_424	c.347_348G>TG	c.(346-348)ttgfs	p.L116fs		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	116					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)	TCTTTGTTCCCAAAAAAAGCAT	0.361													A	94294480	-	A	94294479	7	5	272	1	0	1	1	0	0	0	0	0	7493	131	5	0	2804	0	IDE	10	94294479	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	73477	94294479	41240268	1087	136198											
CYP26C1	340665	broad.mit.edu	37	chr10	94822567	94822567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtgcgctcctggtgcGcggcgggcgggccggtctca	19	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94822567G>A	uc010qns.1	+	3	520	c.520G>A	c.(520-522)GCG>ACG	p.A174T	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	174					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)	1		Colorectal(252;0.122)				CTCCTGGTGCGCGGCGGGCGG	0.741													A	94822567	G	A	94822567	3	1	272	1	0	0	0	0	1	0	0	0	4157	1087	38	1	530	1	CYP26C1	10	94822567	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	528088	94822567	40712180	1088	136199											
CYP26C1	340665	broad.mit.edu	37	chr10	94822703	94822703	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcgagcagctcgtggAgaacctcttctcactgcctc	9	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94822703A>T	uc010qns.1	+	3	656	c.656A>T	c.(655-657)GAG>GTG	p.E219V	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	219					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)	1		Colorectal(252;0.122)				CAGCTCGTGGAGAACCTCTTC	0.697													T	94822703	A	T	94822703	3	4	272	1	0	0	0	0	1	0	0	0	4157	304	11	5	666	5	CYP26C1	10	94822703	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	136	94822703	40712044	1089	136200											
CYP26A1	1592	broad.mit.edu	37	chr10	94833762	94833762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgctcttcctggctgCgatcaagctctgggacctgt	12	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94833762C>T	uc001kil.2	+	1	116	c.71C>T	c.(70-72)GCG>GTG	p.A24V	CYP26A1_uc001kik.1_Intron|CYP26A1_uc001kim.1_5'Flank	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	24					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			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				TTCCTGGCTGCGATCAAGCTC	0.697													T	94833762	C	T	94833762	3	4	272	1	0	0	0	0	1	0	0	0	4155	768	27	1	73	1	CYP26A1	10	94833762	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	11059	94833762	40700985	1090	136201											
MYOF	26509	broad.mit.edu	37	chr10	95168550	95168550	+	Frame_Shift_Del	DEL	A	A	-													ctcaacccctttacctcatcAaaaaaagggttgtttcctct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:95168549_95168549CA>C	uc001kin.3	-	6	847	c.724_724TG>G	c.(724-726)gatfs	p.D242fs	MYOF_uc001kio.3_Frame_Shift_Del_p.D242fs|MYOF_uc001kip.4_Frame_Shift_Del_p.D242fs|MYOF_uc009xuf.2_Frame_Shift_Del_p.D224fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	242	C2 2.|Necessary for interaction with EHD2.				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						TTTACCTCATCAAAAAAAGGG	0.498													-	95168550	A	-	95168550	7	5	272	1	0	1	0	1	0	0	0	0	10089	127	5	0	5654	0	MYOF	10	95168550	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	334788	95168550	40366197	1091	136202											
LGI1	9211	broad.mit.edu	37	chr10	95556956	95556956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttcaaaagctggttttaCtaccatttacaaatggaacg	7	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:95556956C>T	uc001kjc.3	+	8	1406	c.1070C>T	c.(1069-1071)ACT>ATT	p.T357I	LGI1_uc010qnv.1_Missense_Mutation_p.T309I|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	357	EAR 3.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)				GCTGGTTTTACTACCATTTAC	0.378													T	95556956	C	T	95556956	3	4	272	1	0	0	0	0	1	0	0	0	8751	565	20	4	1100	4	LGI1	10	95556956	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	388406	95556956	39977791	1092	136203											
BLNK	29760	broad.mit.edu	37	chr10	97956800	97956800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatggccagagcttttcCgaataagaaatgatccatcc	7	10	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:97956800C>T	uc001kls.3	-	16	1293	c.1115G>A	c.(1114-1116)CGG>CAG	p.R372Q	BLNK_uc001kme.3_Missense_Mutation_p.R267Q|BLNK_uc001klt.3_Missense_Mutation_p.R263Q|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Intron|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.R349Q|BLNK_uc001kly.3_Intron|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Intron|BLNK_uc001kmb.3_Missense_Mutation_p.R168Q|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.R290Q|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	372	SH2.				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			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGAGCTTTTCCGAATAAGAAA	0.274													T	97956800	C	T	97956800	3	4	272	1	0	0	0	0	1	0	0	0	1447	652	23	1	263	1	BLNK	10	97956800	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2399844	97956800	37577947	1093	136204											
PIK3AP1	118788	broad.mit.edu	37	chr10	98369534	98369534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtcctagggggaatgAcacttttcctggggccactc	12	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:98369534A>G	uc001kmq.2	-	14	2233	c.2105T>C	c.(2104-2106)GTC>GCC	p.V702A	PIK3AP1_uc001kmo.2_Missense_Mutation_p.V301A|PIK3AP1_uc001kmp.2_Missense_Mutation_p.V524A	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	702						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGGGGAATGACACTTTTCCT	0.567													G	98369534	A	G	98369534	3	3	272	1	0	0	0	0	1	0	0	0	11908	275	10	3	328	3	PIK3AP1	10	98369534	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	412734	98369534	37165213	1094	136205											
RRP12	23223	broad.mit.edu	37	chr10	99118343	99118343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaggcatagggatccgGccggcctttcttcttcacat	11	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:99118343G>A	uc001knf.2	-	33	3881	c.3742C>T	c.(3742-3744)CCG>TCG	p.P1248S	RRP12_uc001kne.2_Missense_Mutation_p.P263S|RRP12_uc009xvl.2_Missense_Mutation_p.P365S|RRP12_uc009xvm.2_Missense_Mutation_p.P966S|RRP12_uc010qou.1_Missense_Mutation_p.P1187S|RRP12_uc009xvn.2_Missense_Mutation_p.P1148S	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1248						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAGGGATCCGGCCGGCCTTTC	0.582													A	99118343	G	A	99118343	3	1	272	1	0	0	0	0	1	0	0	0	13686	1203	42	2	159	2	RRP12	10	99118343	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	748809	99118343	36416404	1095	136206											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623943	99623943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttctcaagaagatttccCgctacatccaggagcagaat	9	10	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:99623943C>T	uc001kos.2	+	4	375	c.310C>T	c.(310-312)CGC>TGC	p.R104C		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	104						Golgi membrane					0						GAAGATTTCCCGCTACATCCA	0.567													T	99623943	C	T	99623943	3	4	272	1	0	0	0	0	1	0	0	0	6562	652	23	1	324	1	GOLGA7B	10	99623943	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	505600	99623943	35910804	1096	136207											
NKX2-3	159296	broad.mit.edu	37	chr10	101294895	101294895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggttcaagcagcagcGgtacctgtcggcacccgagc	13	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:101294895G>A	uc009xwj.2	+	2	711	c.512G>A	c.(511-513)CGG>CAG	p.R171Q		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	171	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		AAGCAGCAGCGGTACCTGTCG	0.627													A	101294895	G	A	101294895	3	1	272	1	0	0	0	0	1	0	0	0	10451	1116	39	1	518	1	NKX2-3	10	101294895	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1670952	101294895	34239852	1097	136208											
COX15	1355	broad.mit.edu	37	chr10	101491804	101491804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggaaagagcaatcgctgCatactgatgacagggaacag	14	8	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:101491804C>T	uc001kqb.3	-	1	620	c.3G>A	c.(1-3)ATG>ATA	p.M1I	COX15_uc001kqc.3_Missense_Mutation_p.M1I|COX15_uc010qpj.1_5'UTR|CUTC_uc010qpk.1_5'Flank|CUTC_uc001kqd.3_5'Flank|CUTC_uc001kqe.3_5'Flank	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	1					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCAATCGCTGCATACTGATGA	0.617													T	101491804	C	T	101491804	3	4	272	1	0	0	0	0	1	0	0	0	3764	710	25	2	1335	2	COX15	10	101491804	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	196909	101491804	34042943	1098	136209											
WNT8B	7479	broad.mit.edu	37	chr10	102242433	102242433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcgccgggccgagaccGtgtccagctgcaactgcaag	15	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102242433G>A	uc001krb.2	+	6	1030	c.916G>A	c.(916-918)GTG>ATG	p.V306M		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family,	306					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(1)|breast(1)|large_intestine(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGCCGAGACCGTGTCCAGCTG	0.726											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	102242433	G	A	102242433	3	1	272	1	0	0	0	0	1	0	0	0	17394	1145	40	1	938	1	WNT8B	10	102242433	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	750629	102242433	33292314	1099	136210											
SEC31B	25956	broad.mit.edu	37	chr10	102265255	102265255	+	Splice_Site	DEL	G	G	-													gctgaaggaagaggagatctGgggggaaaagacacctgcat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102265254_102265254TG>T	uc001krc.1	-	10	1147	c.1045_splice	c.e10-1	p.I349_splice	SEC31B_uc010qpo.1_Splice_Site_p.I348_splice|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_Splice_Site|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	349					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum 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)		AGAGGAGATCTGGGGGGAAAA	0.532													-	102265255	G	-	102265255	8	5	272	1	0	1	0	1	0	0	1	0	13999	1363	47	0		0	SEC31B	10	102265255	Splice_Site	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	22822	102265255	33269492	1100	136211											
SEC31B	25956	broad.mit.edu	37	chr10	102265959	102265959	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggtagcttatataccacCtaatatgagggaacacacca	8	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102265959C>A	uc001krc.1	-	9	985	c.883_splice	c.e9-1	p.V295_splice	SEC31B_uc010qpo.1_Splice_Site_p.V294_splice|SEC31B_uc001krd.1_Splice_Site|SEC31B_uc001krf.1_Splice_Site|SEC31B_uc001kre.1_Splice_Site|SEC31B_uc001krg.1_Splice_Site|SEC31B_uc010qpp.1_Intron|SEC31B_uc009xwn.1_Intron|SEC31B_uc009xwo.1_Intron|SEC31B_uc010qpq.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TATATACCACCTAATATGAGG	0.527													A	102265959	C	A	102265959	5	1	272	1	0	0	0	0	0	0	1	0	13999	695	24	5	2729	5	SEC31B	10	102265959	Splice_Site	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	704	102265959	33268788	1101	136212											
PAX2	5076	broad.mit.edu	37	chr10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-													cccttattattatagtgccgCcccccggggctccgcccctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102587323_102587323GC>G	uc001krk.4	+	10	1732	c.1182_1182GC>G	c.(1180-1182)ccgfs	p.P394fs	PAX2_uc001krm.4_Frame_Shift_Del_p.A401fs|PAX2_uc001krn.4_Frame_Shift_Del_p.P371fs|PAX2_uc001kro.4_Frame_Shift_Del_p.A378fs|PAX2_uc010qps.2_Frame_Shift_Del_p.A377fs|PAX2_uc001krl.4_3'UTR	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	394					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)		TTATAGTGCCGCCCCCCGGGG	0.572													-	102587324	C	-	102587324	7	5	272	1	0	1	0	1	0	0	0	0	11479	739	26	0	1331	0	PAX2	10	102587324	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	321365	102587324	32947423	1102	136213											
FAM178A	55719	broad.mit.edu	37	chr10	102684492	102684492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagataaagccccttcAgaaggagagagttcaggaaa	10	9	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102684492A>G	uc001krt.3	+	5	2276	c.1734A>G	c.(1732-1734)TCA>TCG	p.S578S	FAM178A_uc001krr.1_Silent_p.S578S|FAM178A_uc001krs.2_Silent_p.S578S|FAM178A_uc001kru.1_Silent_p.S513S	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	578											0						AAGCCCCTTCAGAAGGAGAGA	0.463													G	102684492	A	G	102684492	2	3	272	1	0	0	0	0	0	0	0	1	5503	175	7	3		3	FAM178A	10	102684492	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	97168	102684492	32850255	1103	136214											
FAM178A	55719	broad.mit.edu	37	chr10	102719203	102719203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaaagacttggtcgccAggatacatggaaaatggcag	14	6	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102719203A>G	uc001krt.3	+	19	3978	c.3436A>G	c.(3436-3438)AGG>GGG	p.R1146G	FAM178A_uc001krs.2_Missense_Mutation_p.R1146G	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	1146											0						CTTGGTCGCCAGGATACATGG	0.353													G	102719203	A	G	102719203	3	3	272	1	0	0	0	0	1	0	0	0	5503	179	7	3	3510	3	FAM178A	10	102719203	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	34711	102719203	32815544	1104	136215											
MRPL43	84545	broad.mit.edu	37	chr10	102739097	102739097	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggagcagaggtcaatgaGgatgagataggatccactgt	15	6	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102739097G>T	uc001kry.1	-	5	633	c.561C>A	c.(559-561)TCC>TCA	p.S187S	SEMA4G_uc001krv.2_Intron|SEMA4G_uc010qpt.1_Intron|SEMA4G_uc001krw.1_Intron|SEMA4G_uc001krx.2_Intron|MRPL43_uc010qpu.1_Missense_Mutation_p.L230I	NM_176792	NP_789762	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43 isoform b	187					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGGTCAATGAGGATGAGATAG	0.403													T	102739097	G	T	102739097	2	4	272	1	0	0	0	0	0	0	0	1	9807	987	35	5		5	MRPL43	10	102739097	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	19894	102739097	32795650	1105	136216											
NPM3	10360	broad.mit.edu	37	chr10	103543108	103543108	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccgcgttcggctctcctGactcaaaaacgctaaggcag	11	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:103543108G>A	uc001ktt.2	-	1	63	c.40C>T	c.(40-42)CAG>TAG	p.Q14*		NM_006993	NP_008924	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	14							nucleic acid binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGGCTCTCCTGACTCAAAAAC	0.627													A	103543108	G	A	103543108	4	1	272	1	0	0	0	0	0	1	0	0	10589	1299	45	4	516	4	NPM3	10	103543108	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	804011	103543108	31991639	1106	136217											
GBF1	8729	broad.mit.edu	37	chr10	104128514	104128514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtgcgccatgatctcCgcccactatggcctcagcga	11	14	2	1	rs141570106		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104128514C>T	uc001kux.1	+	23	3135	c.2895C>T	c.(2893-2895)TCC>TCT	p.S965S	GBF1_uc001kuy.1_Silent_p.S965S|GBF1_uc001kuz.1_Silent_p.S966S	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	965					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCATGATCTCCGCCCACTATG	0.532													T	104128514	C	T	104128514	2	4	272	1	0	0	0	0	0	0	0	1	6271	639	23	1		1	GBF1	10	104128514	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	585406	104128514	31406233	1107	136218											
GBF1	8729	broad.mit.edu	37	chr10	104129937	104129937	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgccctctctagcaatgtGacccagaaaaaatgatcaca	6	11	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104129937G>A	uc001kux.1	+	27	3583	c.3343G>A	c.(3343-3345)GAC>AAC	p.D1115N	GBF1_uc001kuy.1_Missense_Mutation_p.D1115N|GBF1_uc001kuz.1_Missense_Mutation_p.D1116N	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1115					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTAGCAATGTGACCCAGAAAA	0.498													A	104129937	G	A	104129937	3	1	272	1	0	0	0	0	1	0	0	0	6271	1290	45	4	3445	4	GBF1	10	104129937	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1423	104129937	31404810	1108	136219											
GBF1	8729	broad.mit.edu	37	chr10	104130552	104130552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctgcttccttgtggagCgggcagtggtggggttgcta	16	7	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104130552C>T	uc001kux.1	+	29	3832	c.3592C>T	c.(3592-3594)CGG>TGG	p.R1198W	GBF1_uc001kuy.1_Missense_Mutation_p.R1198W|GBF1_uc001kuz.1_Missense_Mutation_p.R1199W	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1198					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTTGTGGAGCGGGCAGTGGT	0.542													T	104130552	C	T	104130552	3	4	272	1	0	0	0	0	1	0	0	0	6271	759	27	1	3702	1	GBF1	10	104130552	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	615	104130552	31404195	1109	136220											
CNNM2	54805	broad.mit.edu	37	chr10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-													cgtggatcccgatgactgtaCccccctgaaaaccatcacca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104679762_104679762AC>A	uc001kwm.3	+	0	1688	c.1525_1525AC>A	c.(1525-1527)accfs	p.T509fs	CNNM2_uc001kwn.3_Frame_Shift_Del_p.T509fs|CNNM2_uc001kwl.3_Frame_Shift_Del_p.T509fs	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	509	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGATGACTGTACCCCCCTGAA	0.488													-	104679763	C	-	104679763	7	5	272	1	0	1	0	1	0	0	0	0	3613	507	18	0	1528	0	CNNM2	10	104679763	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	549211	104679763	30854984	1110	136221											
NEURL	9148	broad.mit.edu	37	chr10	105330652	105330652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgggggccccttccccGtcacttctcaccgatgccac	8	19	2	0	rs143041435		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:105330652G>A	uc001kxh.2	+	2	519	c.109G>A	c.(109-111)GTC>ATC	p.V37I		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	37					nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCCCTTCCCCGTCACTTCTCA	0.647													A	105330652	G	A	105330652	3	1	272	1	0	0	0	0	1	0	0	0	10345	1145	40	1	115	1	NEURL	10	105330652	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	650889	105330652	30204095	1111	136222											
PNLIP	5406	broad.mit.edu	37	chr10	118307977	118307977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggagaagaaaactggCtggccaatgtgtgcaaggtg	15	6	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:118307977C>T	uc001lcm.2	+	4	350	c.307C>T	c.(307-309)CTG>TTG	p.L103L		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	103					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.338													T	118307977	C	T	118307977	2	4	272	1	0	0	0	0	0	0	0	1	12149	796	28	2		2	PNLIP	10	118307977	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	12977325	118307977	17226770	1112	136223											
BAG3	9531	broad.mit.edu	37	chr10	121411231	121411231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgcaggtggcgtccgGcaacggtgaccgcgaccctt	14	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:121411231G>A	uc001lem.2	+	1	350	c.44G>A	c.(43-45)GGC>GAC	p.G15D	BAG3_uc001lel.2_Missense_Mutation_p.G15D	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	15					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GTGGCGTCCGGCAACGGTGAC	0.716													A	121411231	G	A	121411231	3	1	272	1	0	0	0	0	1	0	0	0	1288	1203	42	2	46	2	BAG3	10	121411231	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3103254	121411231	14123516	1113	136224											
INPP5F	22876	broad.mit.edu	37	chr10	121586728	121586728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtccttctgctggcgaCgtacacatattgactggctt	9	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:121586728C>T	uc001leo.2	+	20	3001	c.2835C>T	c.(2833-2835)GAC>GAT	p.D945D	INPP5F_uc001lep.2_Silent_p.D335D	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	945							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGCTGGCGACGTACACATAT	0.468													T	121586728	C	T	121586728	2	4	272	1	0	0	0	0	0	0	0	1	7758	535	19	1		1	INPP5F	10	121586728	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	175497	121586728	13948019	1114	136225											
TACC2	10579	broad.mit.edu	37	chr10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-													caccaagaaacccacagagaCccccccagtgaaggagacgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:123970379_123970379AC>A	uc001lfv.3	+	8	6799	c.6439_6439AC>A	c.(6439-6441)accfs	p.T2147fs	TACC2_uc001lfw.3_Frame_Shift_Del_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Del_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Del_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Del_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.T242fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2147						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)				ACCCACAGAGACCCCCCCAGT	0.517													-	123970380	C	-	123970380	7	5	272	1	0	1	0	1	0	0	0	0	15499	507	18	0	6542	0	TACC2	10	123970380	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2383652	123970380	11564367	1115	136226											
BTBD16	118663	broad.mit.edu	37	chr10	124096124	124096124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaggccctggttgacgGcaagtggcaggagttcagga	17	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:124096124G>A	uc001lgc.1	+	15	1630	c.1379G>A	c.(1378-1380)GGC>GAC	p.G460D	BTBD16_uc001lgd.1_Missense_Mutation_p.G459D	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	460										skin(1)	1		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CTGGTTGACGGCAAGTGGCAG	0.542													A	124096124	G	A	124096124	3	1	272	1	0	0	0	0	1	0	0	0	1541	1203	42	2	1433	2	BTBD16	10	124096124	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	125744	124096124	11438623	1116	136227											
DMBT1	1755	broad.mit.edu	37	chr10	124353109	124353109	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcccggccgacacccaGtccaggtaggtccccagtgt	11	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:124353109G>C	uc001lgk.1	+	21	2631	c.2525G>C	c.(2524-2526)AGT>ACT	p.S842T	DMBT1_uc001lgl.1_Missense_Mutation_p.S832T|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.S842T|DMBT1_uc010qtx.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	842					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGACACCCAGTCCAGGTAGG	0.522													C	124353109	G	C	124353109	3	2	272	1	0	0	0	0	1	0	0	0	4577	1029	36	5	2607	5	DMBT1	10	124353109	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	256985	124353109	11181638	1117	136228											
HMX3	340784	broad.mit.edu	37	chr10	124896767	124896767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgccaggcgcggccggggcGagcgtaggggcggcggcggc	24	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:124896767G>A	uc010quc.1	+	2	594	c.594G>A	c.(592-594)GCG>GCA	p.A198A		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	198					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGGCCGGGGCGAGCGTAGGGG	0.657													A	124896767	G	A	124896767	2	1	272	1	0	0	0	0	0	0	0	1	7248	1045	37	1		1	HMX3	10	124896767	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	543658	124896767	10637980	1118	136229											
CPXM2	119587	broad.mit.edu	37	chr10	125526656	125526656	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcccagggaccagcctcCcagctccgagccctggagac	12	18	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:125526656C>A	uc001lhk.1	-	10	1637	c.1312G>T	c.(1312-1314)GGA>TGA	p.G438*	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	438					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		GACCAGCCTCCCAGCTCCGAG	0.547													A	125526656	C	A	125526656	4	1	272	1	0	0	0	0	0	1	0	0	3838	632	22	5	978	5	CPXM2	10	125526656	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	629889	125526656	10008091	1119	136230											
CHST15	51363	broad.mit.edu	37	chr10	125780886	125780886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcatggaagtcgtccgcGgatttattcgaacttgcaaa	9	9	1	0	rs139630938	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:125780886G>A	uc001lhl.2	-	5	1746	c.1233C>T	c.(1231-1233)TCC>TCT	p.S411S	CHST15_uc001lhm.2_Silent_p.S411S|CHST15_uc001lhn.2_Silent_p.S411S|CHST15_uc010que.1_Silent_p.S411S|CHST15_uc001lho.2_Silent_p.S411S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	411	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						AGTCGTCCGCGGATTTATTCG	0.418													A	125780886	G	A	125780886	2	1	272	1	0	0	0	0	0	0	0	1	3403	1103	39	1		1	CHST15	10	125780886	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	254230	125780886	9753861	1120	136231											
CHST15	51363	broad.mit.edu	37	chr10	125801889	125801889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgatggatctggtgtgCggccaggtcaaagaggtcca	14	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:125801889C>T	uc001lhl.2	-	3	1474	c.961G>A	c.(961-963)GCA>ACA	p.A321T	CHST15_uc001lhm.2_Missense_Mutation_p.A321T|CHST15_uc001lhn.2_Missense_Mutation_p.A321T|CHST15_uc010que.1_Missense_Mutation_p.A321T|CHST15_uc001lho.2_Missense_Mutation_p.A321T	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	321	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						ATCTGGTGTGCGGCCAGGTCA	0.527													T	125801889	C	T	125801889	3	4	272	1	0	0	0	0	1	0	0	0	3403	768	27	1	744	1	CHST15	10	125801889	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	21003	125801889	9732858	1121	136232											
FAM175B	23172	broad.mit.edu	37	chr10	126495406	126495406	+	Frame_Shift_Del	DEL	T	T	-													ttaattacttttaggaaggaTttttactgggagaggtaaga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:126495405_126495405AT>A	uc001lib.4	+	1	123	c.78_78AT>A	c.(76-78)ggafs	p.G26fs		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	26	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						TTTAGGAAGGATTTTTACTGG	0.294													-	126495406	T	-	126495406	7	5	272	1	0	1	0	1	0	0	0	0	5498	1493	52	0	85	0	FAM175B	10	126495406	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	693517	126495406	9039341	1122	136233											
CTBP2	1488	broad.mit.edu	37	chr10	126682504	126682504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtgctaaggctttctcGtccaccaggccgccacgggc	12	15	1	0	rs148275243		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:126682504G>A	uc009yak.2	-	8	1118	c.831C>T	c.(829-831)GAC>GAT	p.D277D	CTBP2_uc009yal.2_Silent_p.D277D|CTBP2_uc001lif.3_Silent_p.D277D|CTBP2_uc001lih.3_Silent_p.D277D|CTBP2_uc001lid.3_Silent_p.D345D|CTBP2_uc001lie.3_Silent_p.D817D	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	277					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				0		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)		AGGCTTTCTCGTCCACCAGGC	0.607													A	126682504	G	A	126682504	2	1	272	1	0	0	0	0	0	0	0	1	3998	1136	40	1		1	CTBP2	10	126682504	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	187098	126682504	8852243	1123	136234											
CTBP2	1488	broad.mit.edu	37	chr10	126691913	126691913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgggcccaccttctcGtggatttcctgcgtcgactg	13	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:126691913G>A	uc009yak.2	-	4	494	c.207C>T	c.(205-207)CAC>CAT	p.H69H	CTBP2_uc009yal.2_Silent_p.H69H|CTBP2_uc001lif.3_Silent_p.H69H|CTBP2_uc001lih.3_Silent_p.H69H|CTBP2_uc001lid.3_Silent_p.H137H|CTBP2_uc001lie.3_Silent_p.H609H	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	69					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				0		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)		CCACCTTCTCGTGGATTTCCT	0.667													A	126691913	G	A	126691913	2	1	272	1	0	0	0	0	0	0	0	1	3998	1136	40	1		1	CTBP2	10	126691913	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9409	126691913	8842834	1124	136235											
C10orf90	118611	broad.mit.edu	37	chr10	128192694	128192694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccactccaaggacaagCgccggtccccaaatgcaccc	8	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:128192694C>T	uc001ljq.2	-	3	1196	c.1075G>A	c.(1075-1077)GCT>ACT	p.A359T	C10orf90_uc001ljp.2_Missense_Mutation_p.A312T|C10orf90_uc010qum.1_Missense_Mutation_p.A456T|C10orf90_uc009yao.2_Missense_Mutation_p.A456T|C10orf90_uc001ljs.1_Missense_Mutation_p.A312T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	359										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAAGGACAAGCGCCGGTCCCC	0.512											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128192694	C	T	128192694	3	4	272	1	0	0	0	0	1	0	0	0	1623	768	27	1	1052	1	C10orf90	10	128192694	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1500781	128192694	7342053	1125	136236											
EBF3	253738	broad.mit.edu	37	chr10	131638574	131638574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttggggccggaccacgGgcgcgaaggcgctcttctgt	17	12	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:131638574G>A	uc001lki.1	-	15	1618	c.1559C>T	c.(1558-1560)CCC>CTC	p.P520L		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	565					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		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)		CCGGACCACGGGCGCGAAGGC	0.622													A	131638574	G	A	131638574	3	1	272	1	0	0	0	0	1	0	0	0	4882	1232	43	4	104	4	EBF3	10	131638574	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3445880	131638574	3896173	1126	136237											
INPP5A	3632	broad.mit.edu	37	chr10	134503931	134503931	+	Frame_Shift_Del	DEL	A	A	-													tattttcttcatgagtccttAaaaaacatctaccagtttga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:134503930_134503930TA>T	uc001llp.3	+	4	589	c.341_341TA>T	c.(340-342)ttafs	p.L114fs	INPP5A_uc001llo.1_Frame_Shift_Del_p.L114fs|INPP5A_uc001llq.3_Frame_Shift_Del_p.L66fs	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	114					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			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)		CATGAGTCCTTAAAAAACATC	0.428													-	134503931	A	-	134503931	7	5	272	1	0	1	0	1	0	0	0	0	7754	359	13	0	360	0	INPP5A	10	134503931	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2865357	134503931	1030816	1127	136238											
MTG1	92170	broad.mit.edu	37	chr10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-													cacttagaaggagaaggcctAaaaaatgtcatttttaccaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408													-	135211971	A	-	135211971	7	5	272	1	0	1	0	1	0	0	0	0	9926	349	13	0	329	0	MTG1	10	135211971	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	708040	135211971	322776	1128	136239											
PKP3	11187	broad.mit.edu	37	chr11	400009	400009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaccacctgaaggaccGcctggccagagacacgctgg	13	15	0	2	rs144679997		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:400009G>A	uc001lpc.2	+	6	1392	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	439					cell adhesion	desmosome|nucleus	binding			skin(1)	1		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)		CTGAAGGACCGCCTGGCCAGA	0.662													A	400009	G	A	400009	3	1	272	1	0	0	0	0	1	0	0	0	11986	1087	38	1	1338	1	PKP3	11	400009	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08		400009	134606507	1129	136240											
PHRF1	57661	broad.mit.edu	37	chr11	609301	609301	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcgacgccgttttcatccAgctcgatgacatgagctcgc	10	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:609301A>T	uc001lqe.2	+	14	3976	c.3845A>T	c.(3844-3846)CAG>CTG	p.Q1282L	PHRF1_uc010qwc.1_Missense_Mutation_p.Q1281L|PHRF1_uc010qwd.1_Missense_Mutation_p.Q1280L|PHRF1_uc010qwe.1_Missense_Mutation_p.Q1278L|PHRF1_uc009ybz.1_Missense_Mutation_p.Q1072L|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1282							RNA polymerase binding|zinc ion binding				0						GTTTTCATCCAGCTCGATGAC	0.607													T	609301	A	T	609301	3	4	272	1	0	0	0	0	1	0	0	0	11861	188	7	5	3892	5	PHRF1	11	609301	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	209292	609301	134397215	1130	136241											
DEAF1	10522	broad.mit.edu	37	chr11	679753	679753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcagtggcctctaccGtggacgctcggtcaaaggtc	13	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:679753G>A	uc001lqq.1	-	8	1754	c.1061C>T	c.(1060-1062)ACG>ATG	p.T354M	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	354					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|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		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)		GGCCTCTACCGTGGACGCTCG	0.642													A	679753	G	A	679753	3	1	272	1	0	0	0	0	1	0	0	0	4380	1145	40	1	656	1	DEAF1	11	679753	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	70452	679753	134326763	1131	136242											
CHID1	66005	broad.mit.edu	37	chr11	900108	900108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcaaacaggagccgagGcactgcaggggcaacagaca	13	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:900108G>A	uc001lsl.2	-	6	603	c.442C>T	c.(442-444)CCT>TCT	p.P148S	CHID1_uc010qwu.1_Missense_Mutation_p.P178S|CHID1_uc010qwv.1_Missense_Mutation_p.P209S|CHID1_uc001lsn.2_Missense_Mutation_p.P173S|CHID1_uc001lsm.2_Missense_Mutation_p.P148S|CHID1_uc001lso.2_Missense_Mutation_p.P148S|CHID1_uc001lsp.2_Missense_Mutation_p.P148S|CHID1_uc010qww.1_Missense_Mutation_p.P148S	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	148					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity				0		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;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGGAGCCGAGGCACTGCAGGG	0.587													A	900108	G	A	900108	3	1	272	1	0	0	0	0	1	0	0	0	3345	1203	42	2	771	2	CHID1	11	900108	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	220355	900108	134106408	1132	136243											
AP2A2	161	broad.mit.edu	37	chr11	993774	993774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgatccagttccaccTgctgcactccaagttccacc	6	19	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:993774T>C	uc001lss.2	+	13	1752	c.1571T>C	c.(1570-1572)CTG>CCG	p.L524P	AP2A2_uc001lst.1_Missense_Mutation_p.L525P|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Missense_Mutation_p.L115P	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	524					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				0		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)		CAGTTCCACCTGCTGCACTCC	0.687													C	993774	T	C	993774	3	2	272	1	0	0	0	0	1	0	0	0	740	1580	55	3	1621	3	AP2A2	11	993774	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	93666	993774	134012742	1133	136244											
MUC2	4583	broad.mit.edu	37	chr11	1081791	1081791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggactggttggacgatccCtgctccctgaacatcgagag	12	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:1081791C>A	uc001lsx.1	+	13	1746	c.1719C>A	c.(1717-1719)CCC>CCA	p.P573P		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	573	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	TGGACGATCCCTGCTCCCTGA	0.677													A	1081791	C	A	1081791	2	1	272	1	0	0	0	0	0	0	0	1	9975	668	24	5		5	MUC2	11	1081791	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	88017	1081791	133924725	1134	136245											
MUC2	4583	broad.mit.edu	37	chr11	1083287	1083287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggtctctacctggaggcGggggatgtggtcgtcaggca	18	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:1083287G>A	uc001lsx.1	+	16	2214	c.2187G>A	c.(2185-2187)GCG>GCA	p.A729A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	729						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	ACCTGGAGGCGGGGGATGTGG	0.672													A	1083287	G	A	1083287	2	1	272	1	0	0	0	0	0	0	0	1	9975	1103	39	1		1	MUC2	11	1083287	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1496	1083287	133923229	1135	136246											
SLC22A18	5002	broad.mit.edu	37	chr11	2924669	2924669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttgcttacctacgtgCtggccgccacagaacttacc	7	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:2924669C>A	uc001lwx.2	+	2	312	c.94C>A	c.(94-96)CTG>ATG	p.L32M	SLC22A18AS_uc001lwv.3_Intron|SLC22A18AS_uc001lww.3_Intron|SLC22A18_uc001lwy.2_Missense_Mutation_p.L32M|SLC22A18_uc001lwz.2_Missense_Mutation_p.L32M	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	32	Helical; (Potential).				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		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;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTACGTGCTGGCCGCCAC	0.652													A	2924669	C	A	2924669	3	1	272	1	0	0	0	0	1	0	0	0	14449	796	28	5	96	5	SLC22A18	11	2924669	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1841382	2924669	132081847	1136	136247											
CHRNA10	57053	broad.mit.edu	37	chr11	3688709	3688709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggctcggagcagcagccGtaggtgagcacgcgccgccg	17	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:3688709G>A	uc001lyf.2	-	4	720	c.648C>T	c.(646-648)TAC>TAT	p.Y216Y	CHRNA10_uc010qxt.1_Silent_p.Y10Y|CHRNA10_uc010qxu.1_Silent_p.Y10Y	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	216	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		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)	AGCAGCAGCCGTAGGTGAGCA	0.731													A	3688709	G	A	3688709	2	1	272	1	0	0	0	0	0	0	0	1	3382	1140	40	1		1	CHRNA10	11	3688709	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	764040	3688709	131317807	1137	136248											
OR51E2	81285	broad.mit.edu	37	chr11	4703475	4703476	+	Frame_Shift_Ins	INS	-	-	A													gatcagcagaggcagtgggaINSaaaaaaagagggatccgcgg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:4703474_4703475G>GA	uc001lzk.2	-	1	711_712	c.467_468C>TC	c.(466-468)ttcfs	p.F156fs	OR51E2_uc021qcr.1_Frame_Shift_Ins_p.F156fs	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGGCAGTGGGAAAAAAAAGAG	0.554													A	4703476	-	A	4703475	7	5	272	1	0	1	1	0	0	0	0	0	11095	246	9	0	499	0	OR51E2	11	4703475	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1014766	4703475	130303041	1138	136249											
OR52A5	390054	broad.mit.edu	37	chr11	5153860	5153860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgaagactgagccatTgaatgtcggcatgatttgtt	13	6	0	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:5153860T>C	uc010qyx.1	-	1	13	c.13A>G	c.(13-15)AAT>GAT	p.N5D		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		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)		ACTGAGCCATTGAATGTCGGC	0.388													C	5153860	T	C	5153860	3	2	272	1	0	0	0	0	1	0	0	0	11110	1812	63	3	940	3	OR52A5	11	5153860	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	450385	5153860	129852656	1139	136250											
OR52N4	390072	broad.mit.edu	37	chr11	5776875	5776875	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgaaaaccaaacagaTacgagactgtgtcataagga	12	6	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:5776875T>G	uc001mbu.2	+	1	953	c.905T>G	c.(904-906)ATA>AGA	p.I302R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		ACCAAACAGATACGAGACTGT	0.428													G	5776875	T	G	5776875	3	3	272	1	0	0	0	0	1	0	0	0	11129	1406	49	5	907	5	OR52N4	11	5776875	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	623015	5776875	129229641	1140	136251											
ILK	3611	broad.mit.edu	37	chr11	6631234	6631234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttccaatgtcctggtcGcatgtatgcacctgcctggg	10	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6631234G>A	uc001mee.2	+	11	1181	c.1046G>A	c.(1045-1047)CGC>CAC	p.R349H	ILK_uc001mef.2_Missense_Mutation_p.R349H|ILK_uc010rap.1_Missense_Mutation_p.R215H|ILK_uc010raq.1_Missense_Mutation_p.R288H|ILK_uc001meg.2_Missense_Mutation_p.R195H|ILK_uc001meh.2_Missense_Mutation_p.R349H|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	349	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGTCCTGGTCGCATGTATGCA	0.502													A	6631234	G	A	6631234	3	1	272	1	0	0	0	0	1	0	0	0	7713	1087	38	1	1084	1	ILK	11	6631234	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	854359	6631234	128375282	1141	136252											
DCHS1	8642	broad.mit.edu	37	chr11	6648203	6648203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagagctacaggagagcgggCcacgcggatttcaccagtgt	14	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6648203C>A	uc001mem.1	-	14	6477	c.6067G>T	c.(6067-6069)GCC>TCC	p.A2023S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2023	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAGCGGGCCACGCGGATT	0.577													A	6648203	C	A	6648203	3	1	272	1	0	0	0	0	1	0	0	0	4287	739	26	5	3861	5	DCHS1	11	6648203	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	16969	6648203	128358313	1142	136253											
DCHS1	8642	broad.mit.edu	37	chr11	6651814	6651814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagcgcgtaccgtaagcGcgcgccacggcgggccagct	14	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6651814G>A	uc001mem.1	-	10	4621	c.4211C>T	c.(4210-4212)GCG>GTG	p.A1404V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1404	Cadherin 13.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCGTAAGCGCGCGCCACGG	0.731													A	6651814	G	A	6651814	3	1	272	1	0	0	0	0	1	0	0	0	4287	1087	38	1	5733	1	DCHS1	11	6651814	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3611	6651814	128354702	1143	136254											
DCHS1	8642	broad.mit.edu	37	chr11	6662035	6662035	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaagacaggactgccAggggccaggctctcagacac	12	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6662035A>G	uc001mem.1	-	2	1220	c.810T>C	c.(808-810)CCT>CCC	p.P270P		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	270	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGACTGCCAGGGGCCAGGC	0.597													G	6662035	A	G	6662035	2	3	272	1	0	0	0	0	0	0	0	1	4287	175	7	3		3	DCHS1	11	6662035	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	10221	6662035	128344481	1144	136255											
RBMXL2	27288	broad.mit.edu	37	chr11	7110404	7110404	+	Frame_Shift_Del	DEL	A	A	-													cattgggggcctcaacctcgAaaccgacgagaaagccctcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:7110404delA	uc001mfc.2	+	1	240	c.53delA	c.(52-54)GAAfs	p.E18fs		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	18	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAACCTCGAAACCGACGAG	0.607													-	7110404	A	-	7110404	7	5	272	1	0	1	0	1	0	0	0	0	13154	246	9	0	55	0	RBMXL2	11	7110404	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	448369	7110404	127896112	1145	136256											
PPFIBP2	8495	broad.mit.edu	37	chr11	7670467	7670467	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaatacctaactgtgGtgaggactttttctttaaat	8	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:7670467G>A	uc001mfj.3	+	20	2386	c.1998_splice	c.e20+1	p.V666_splice	PPFIBP2_uc010rbb.1_Splice_Site_p.V589_splice|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Splice_Site_p.V600_splice|PPFIBP2_uc010rbe.1_Splice_Site_p.V554_splice|PPFIBP2_uc001mfl.3_Splice_Site_p.V523_splice|PPFIBP2_uc009yfj.1_Splice_Site_p.V310_splice	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2						cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTAACTGTGGTGAGGACTTT	0.398													A	7670467	G	A	7670467	5	1	272	1	0	0	0	0	0	0	1	0	12314	1275	44	4	2073	4	PPFIBP2	11	7670467	Splice_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	560063	7670467	127336049	1146	136257											
SBF2	81846	broad.mit.edu	37	chr11	9810688	9810688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagagcatcaggctgagTacagctgacatcatcatagc	12	9	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:9810688T>C	uc001mib.2	-	35	5038	c.4900A>G	c.(4900-4902)ACT>GCT	p.T1634A	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.T278A|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1634	Interaction with MTMR2.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCAGGCTGAGTACAGCTGACA	0.577													C	9810688	T	C	9810688	3	2	272	1	0	0	0	0	1	0	0	0	13859	1638	57	3	673	3	SBF2	11	9810688	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2140221	9810688	125195828	1147	136258											
AMPD3	272	broad.mit.edu	37	chr11	10500145	10500146	+	Frame_Shift_Ins	INS	-	-	C													cacagcaagattggaagggcINScccccggcagccagtccggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:10500144_10500145G>GC	uc001min.1	+	2	665_666	c.320_321G>GC	c.(319-321)ggcfs	p.G107fs	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Ins_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.G98fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	98					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)		GATTGGAAGGGCCCCCCGGCAG	0.579													C	10500146	-	C	10500145	7	5	272	1	0	1	1	0	0	0	0	0	587	726	26	0	351	0	AMPD3	11	10500145	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	689457	10500145	124506371	1148	136259											
SOX6	55553	broad.mit.edu	37	chr11	16208344	16208344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctgttcttgctgttgGcgagcaaggtccatttgctg	11	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:16208344G>A	uc001mme.2	-	5	765	c.732C>T	c.(730-732)CGC>CGT	p.R244R	SOX6_uc001mmd.2_Silent_p.R234R|SOX6_uc001mmf.2_Silent_p.R231R|SOX6_uc001mmg.2_Silent_p.R231R	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	231	Potential.|Gln-rich.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						CTTGCTGTTGGCGAGCAAGGT	0.478													A	16208344	G	A	16208344	2	1	272	1	0	0	0	0	0	0	0	1	14955	1190	42	2		2	SOX6	11	16208344	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5708199	16208344	118798172	1149	136260											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159128	18159128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcctgtccatcctgtggCccatctggtaccactgccgc	10	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:18159128C>T	uc001mnu.2	+	3	740	c.379C>T	c.(379-381)CCC>TCC	p.P127S		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	127	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CATCCTGTGGCCCATCTGGTA	0.572													T	18159128	C	T	18159128	3	4	272	1	0	0	0	0	1	0	0	0	9768	739	26	2	381	2	MRGPRX3	11	18159128	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1950784	18159128	116847388	1150	136261											
ANO5	203859	broad.mit.edu	37	chr11	22296135	22296135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttattgttgcatttacGtcagacatcattccccgtct	6	12	3	1	rs144048656		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:22296135G>A	uc001mqi.2	+	20	2573	c.2256G>A	c.(2254-2256)ACG>ACA	p.T752T	ANO5_uc001mqj.2_Silent_p.T751T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	752	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TTGCATTTACGTCAGACATCA	0.363													A	22296135	G	A	22296135	2	1	272	1	0	0	0	0	0	0	0	1	700	1132	40	1		1	ANO5	11	22296135	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4137007	22296135	112710381	1151	136262											
CCDC73	493860	broad.mit.edu	37	chr11	32635393	32635393	+	Frame_Shift_Del	DEL	T	T	-													tcacaaaaaggaagaggtcaTtttttgtggcttcagttacc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:32635392_32635392AT>A	uc001mtv.3	-	15	2516	c.2472_2472AT>T	c.(2470-2472)aatfs	p.N824fs		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	824										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)					GGAAGAGGTCATTTTTTGTGG	0.318													-	32635393	T	-	32635393	7	5	272	1	0	1	0	1	0	0	0	0	2846	1493	52	0	780	0	CCDC73	11	32635393	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	10339258	32635393	102371123	1152	136263											
CSTF3	1479	broad.mit.edu	37	chr11	33106750	33106750	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgacggccttggtgagTactgcattactttccacggg	11	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:33106750T>C	uc001muh.2	-	21	2203	c.2037A>G	c.(2035-2037)GTA>GTG	p.V679V	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	679					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						CCTTGGTGAGTACTGCATTAC	0.512													C	33106750	T	C	33106750	2	2	272	1	0	0	0	0	0	0	0	1	3986	1625	57	3		3	CSTF3	11	33106750	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	471357	33106750	101899766	1153	136264											
HIPK3	10114	broad.mit.edu	37	chr11	33369417	33369417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgatttcatgcagcAatcattataactcagtgatg	9	6	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:33369417A>G	uc001mul.1	+	11	2434	c.2164A>G	c.(2164-2166)AAT>GAT	p.N722D	HIPK3_uc001mum.1_Missense_Mutation_p.N722D|HIPK3_uc009yjv.1_Missense_Mutation_p.N722D	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	722					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TTCATGCAGCAATCATTATAA	0.408													G	33369417	A	G	33369417	3	3	272	1	0	0	0	0	1	0	0	0	7118	130	5	3	2202	3	HIPK3	11	33369417	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	262667	33369417	101637099	1154	136265											
NAT10	55226	broad.mit.edu	37	chr11	34158307	34158307	+	Frame_Shift_Del	DEL	C	C	-													gggtgtttcctatggcttgaCccccaggctcctcaagtaag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:34158306_34158306AC>A	uc001mvk.3	+	19	2390	c.2146_2146AC>A	c.(2146-2148)accfs	p.T716fs	NAT10_uc010ren.2_Frame_Shift_Del_p.T644fs	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	716	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CTATGGCTTGACCCCCAGGCT	0.547													-	34158307	C	-	34158307	7	5	272	1	0	1	0	1	0	0	0	0	10174	507	18	0	2221	0	NAT10	11	34158307	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	788890	34158307	100848209	1155	136266											
RAG2	5897	broad.mit.edu	37	chr11	36614195	36614195	+	Frame_Shift_Del	DEL	T	T	-													gtcaagatttttccagaaccTtttttacggagggatttcat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:36614194_36614194CT>C	uc021qge.1	-	0	1525	c.1525_1525AG>G	c.(1525-1527)ggtfs	p.G509fs	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Frame_Shift_Del_p.G509fs|RAG2_uc021qgd.1_Frame_Shift_Del_p.G509fs|RAG2_uc001mwv.4_Frame_Shift_Del_p.G509fs|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	509					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin 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)				TTTCCAGAACCTTTTTTACGG	0.398									Familial Hemophagocytic Lymphohistiocytosis				-	36614195	T	-	36614195	7	5	272	1	0	1	0	1	0	0	0	0	13005	1606	56	0	63	0	RAG2	11	36614195	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2455888	36614195	98392321	1156	136267											
HSD17B12	51144	broad.mit.edu	37	chr11	43859951	43859952	+	Splice_Site	INS	-	-	A													tctattctgcaaccaaggtaINSaaaaatattttcttaaatca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:43859950_43859951T>TA	uc001mxq.4	+	8	853	c.618_splice	c.e8+2	p.K206_splice		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	206					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						GCAACCAAGGTAAAAAATATTT	0.356													A	43859952	-	A	43859951	8	5	272	1	0	1	1	0	0	0	1	0	7381	377	13	0		0	HSD17B12	11	43859951	Splice_Site	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	7245756	43859951	91146565	1157	136268											
PRDM11	56981	broad.mit.edu	37	chr11	45204517	45204517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcccagaccgggcggCgctcaccatcccacagggca	13	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45204517C>T	uc001myo.2	+	5	680	c.431C>T	c.(430-432)GCG>GTG	p.A144V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	144										upper_aerodigestive_tract(1)	1						GACCGGGCGGCGCTCACCATC	0.612													T	45204517	C	T	45204517	3	4	272	1	0	0	0	0	1	0	0	0	12452	768	27	1	445	1	PRDM11	11	45204517	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1344566	45204517	89801999	1158	136269											
CHST1	8534	broad.mit.edu	37	chr11	45671832	45671832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccagggcgcgcaggtcGttcacctcgggcacgcgcac	13	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45671832G>A	uc001mys.1	-	4	1313	c.642C>T	c.(640-642)AAC>AAT	p.N214N		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	214	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCGCAGGTCGTTCACCTCGG	0.677													A	45671832	G	A	45671832	2	1	272	1	0	0	0	0	0	0	0	1	3397	1136	40	1		1	CHST1	11	45671832	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	467315	45671832	89334684	1159	136270											
GYLTL1B	120071	broad.mit.edu	37	chr11	45948971	45948971	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcatttcgtcgaggcCtcaccagtgcttgctgcccg	10	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45948971C>A	uc001nbv.1	+	11	1542	c.1431C>A	c.(1429-1431)GCC>GCA	p.A477A	GYLTL1B_uc001nbw.1_Silent_p.A446A|GYLTL1B_uc001nbx.1_Silent_p.A477A|GYLTL1B_uc001nby.1_Silent_p.A160A|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	477	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		TCGTCGAGGCCTCACCAGTGC	0.627													A	45948971	C	A	45948971	2	1	272	1	0	0	0	0	0	0	0	1	6907	668	24	5		5	GYLTL1B	11	45948971	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	277139	45948971	89057545	1160	136271											
PHF21A	51317	broad.mit.edu	37	chr11	45955742	45955742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgcatctccttctgcCgggccaggatggtgttcttc	12	12	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45955742C>T	uc001ncc.3	-	18	2444	c.1820G>A	c.(1819-1821)CGG>CAG	p.R607Q	PHF21A_uc001ncb.3_Missense_Mutation_p.R561Q|PHF21A_uc009ykx.2_Missense_Mutation_p.R561Q|PHF21A_uc001nca.1_3'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	607	Required for transcriptional repression.				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(1)|skin(1)	2						CTCCTTCTGCCGGGCCAGGAT	0.552													T	45955742	C	T	45955742	3	4	272	1	0	0	0	0	1	0	0	0	11833	652	23	1	226	1	PHF21A	11	45955742	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6771	45955742	89050774	1161	136272											
DGKZ	8525	broad.mit.edu	37	chr11	46395999	46395999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaataagatgttctacGccggggtgagtggggtctgc	16	7	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:46395999G>A	uc001ncn.1	+	17	2145	c.2020G>A	c.(2020-2022)GCC>ACC	p.A674T	DGKZ_uc001nch.1_Missense_Mutation_p.A502T|DGKZ_uc010rgq.1_Missense_Mutation_p.A429T|DGKZ_uc001ncj.1_Missense_Mutation_p.A452T|DGKZ_uc010rgr.1_Missense_Mutation_p.A451T|DGKZ_uc001nck.1_Missense_Mutation_p.A264T|DGKZ_uc001ncl.2_Missense_Mutation_p.A486T|DGKZ_uc001ncm.2_Missense_Mutation_p.A485T|DGKZ_uc009yky.1_Missense_Mutation_p.A486T|DGKZ_uc010rgs.1_Missense_Mutation_p.A463T	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	674					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|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GATGTTCTACGCCGGGGTGAG	0.652													A	46395999	G	A	46395999	3	1	272	1	0	0	0	0	1	0	0	0	4474	1087	38	1	2529	1	DGKZ	11	46395999	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	440257	46395999	88610517	1162	136273											
MYBPC3	4607	broad.mit.edu	37	chr11	47357511	47357511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccacttgagggagaccGtggtgtcagagacgtcctct	14	12	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:47357511G>A	uc001nfa.3	-	25	2709	c.2654C>T	c.(2653-2655)ACG>ATG	p.T885M	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	884	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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GAGGGAGACCGTGGTGTCAGA	0.672													A	47357511	G	A	47357511	3	1	272	1	0	0	0	0	1	0	0	0	10013	1145	40	1	1206	1	MYBPC3	11	47357511	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	961512	47357511	87649005	1163	136274											
MYBPC3	4607	broad.mit.edu	37	chr11	47364465	47364465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctggtcctccaaggggCgcgtgatgagcacagggggc	17	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:47364465C>T	uc001nfa.3	-	15	1428	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	457	Ig-like C2-type 3.		R -> H (in CMH4).		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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CTCCAAGGGGCGCGTGATGAG	0.622													T	47364465	C	T	47364465	3	4	272	1	0	0	0	0	1	0	0	0	10013	768	27	1	2527	1	MYBPC3	11	47364465	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6954	47364465	87642051	1164	136275											
PTPRJ	5795	broad.mit.edu	37	chr11	48188871	48188871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatctatgaaaaccttgCgcccgtgaccacatttggaa	8	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:48188871C>T	uc001ngp.3	+	25	4326	c.3971C>T	c.(3970-3972)GCG>GTG	p.A1324V		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1324	Cytoplasmic (Potential).				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)|kidney(3)|ovary(1)|skin(1)	8						GAAAACCTTGCGCCCGTGACC	0.443													T	48188871	C	T	48188871	3	4	272	1	0	0	0	0	1	0	0	0	12804	768	27	1	4078	1	PTPRJ	11	48188871	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	824406	48188871	86817645	1165	136276											
FOLH1	2346	broad.mit.edu	37	chr11	49179535	49179535	+	Frame_Shift_Del	DEL	T	T	-													actgaactctggggaaggacTttttttagtccaactttcat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:49179534_49179534CT>C	uc001ngy.3	-	13	1763	c.1502_1502AG>G	c.(1501-1503)agtfs	p.S501fs	FOLH1_uc009yly.3_Frame_Shift_Del_p.S486fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.S486fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.S501fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.S193fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	501	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.K500E(1)|p.S501fs*12(1)		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)	TGGGGAAGGACTTTTTTTAGT	0.348													-	49179535	T	-	49179535	7	5	272	1	0	1	0	1	0	0	0	0	5979	1609	56	0	775	0	FOLH1	11	49179535	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	990664	49179535	85826981	1166	136277											
OR5M8	219484	broad.mit.edu	37	chr11	56258299	56258299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaagccagcttaatcAgtggtgggtccgcacagtag	12	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:56258299A>G	uc001nix.1	-	1	548	c.548T>C	c.(547-549)CTG>CCG	p.L183P		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					CAGCTTAATCAGTGGTGGGTC	0.463													G	56258299	A	G	56258299	3	3	272	1	0	0	0	0	1	0	0	0	11176	188	7	3	391	3	OR5M8	11	56258299	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	7078764	56258299	78748217	1167	136278											
SMTNL1	219537	broad.mit.edu	37	chr11	57313372	57313372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagtcttcacccagcgaCgtgccccagagtccccctga	10	16	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:57313372C>T	uc009ymh.1	+	5	990	c.990C>T	c.(988-990)GAC>GAT	p.D330D		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	312										ovary(1)	1						CACCCAGCGACGTGCCCCAGA	0.657													T	57313372	C	T	57313372	2	4	272	1	0	0	0	0	0	0	0	1	14815	535	19	1		1	SMTNL1	11	57313372	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1055073	57313372	77693144	1168	136279											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466520	57466520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgttacgacaatctgtcgCgccacattgtggcctctctc	8	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:57466520C>T	uc001nkx.1	+	11	2868	c.1612C>T	c.(1612-1614)CGC>TGC	p.R538C	ZDHHC5_uc001nky.1_Missense_Mutation_p.R485C|ZDHHC5_uc001nkz.1_Missense_Mutation_p.R352C	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	538						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CAATCTGTCGCGCCACATTGT	0.627													T	57466520	C	T	57466520	3	4	272	1	0	0	0	0	1	0	0	0	17615	768	27	1	1650	1	ZDHHC5	11	57466520	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	153148	57466520	77539996	1169	136280											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466723	57466723	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactgggacgcccagctgtCccccgttttggcaagccaga	11	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:57466723C>T	uc001nkx.1	+	11	3071	c.1815C>T	c.(1813-1815)GTC>GTT	p.V605V	ZDHHC5_uc001nky.1_Silent_p.V552V|ZDHHC5_uc001nkz.1_Silent_p.V419V	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	605						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						GCCCAGCTGTCCCCCGTTTTG	0.597													T	57466723	C	T	57466723	2	4	272	1	0	0	0	0	0	0	0	1	17615	842	30	4		4	ZDHHC5	11	57466723	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	203	57466723	77539793	1170	136281											
OR5B17	219965	broad.mit.edu	37	chr11	58125979	58125979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcactaatgtgtttctcAgagcaggtcagagtaatgac	9	8	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:58125979A>G	uc010rke.1	-	1	564	c.564T>C	c.(562-564)TCT>TCC	p.S188S		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTGTTTCTCAGAGCAGGTCA	0.358													G	58125979	A	G	58125979	2	3	272	1	0	0	0	0	0	0	0	1	11149	175	7	3		3	OR5B17	11	58125979	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	659256	58125979	76880537	1171	136282											
OR5B17	219965	broad.mit.edu	37	chr11	58126399	58126399	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggagatgagagtccagCaggattaatatgatcatccc	12	7	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:58126399C>A	uc010rke.1	-	1	144	c.144G>T	c.(142-144)CTG>CTT	p.L48L		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGAGTCCAGCAGGATTAATA	0.458													A	58126399	C	A	58126399	2	1	272	1	0	0	0	0	0	0	0	1	11149	697	25	5		5	OR5B17	11	58126399	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	420	58126399	76880117	1172	136283											
MPEG1	219972	broad.mit.edu	37	chr11	58979972	58979973	+	Frame_Shift_Ins	INS	-	-	A													aacttgccattgactttggaINSaaaaagagagagttctgtgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:58979971_58979972G>GA	uc001nnu.4	-	0	523_524	c.367_368C>TC	c.(367-369)tccfs	p.S123fs		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	123	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)				ATTGACTTTGGAAAAAAGAGAG	0.46													A	58979973	-	A	58979972	7	5	272	1	0	1	1	0	0	0	0	0	9723	246	9	0	1787	0	MPEG1	11	58979972	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	853573	58979972	76026544	1173	136284											
TMEM132A	54972	broad.mit.edu	37	chr11	60703568	60703568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgccggggccgccaccGtgtgcctctggcctctggca	14	18	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:60703568G>A	uc001nqj.2	+	11	2454	c.2261G>A	c.(2260-2262)CGT>CAT	p.R754H	TMEM132A_uc001nqi.2_Missense_Mutation_p.R755H|TMEM132A_uc001nqm.2_Translation_Start_Site	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	754	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGCCGCCACCGTGTGCCTCTG	0.751													A	60703568	G	A	60703568	3	1	272	1	0	0	0	0	1	0	0	0	16042	1145	40	1	2306	1	TMEM132A	11	60703568	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1723596	60703568	74302948	1174	136285											
DAK	26007	broad.mit.edu	37	chr11	61113349	61113349	+	Frame_Shift_Del	DEL	G	G	-													ctggattctctgtgggcagcGgggcaggagctccaagcctg					rs148702395	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:61113348_61113348CG>C	uc001nre.3	+	16	1762	c.1505_1505CG>C	c.(1504-1506)gcgfs	p.A502fs	DAK_uc009ynm.1_Frame_Shift_Del_p.A432fs	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	502	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						CTGTGGGCAGCGGGGCAGGAG	0.602													-	61113349	G	-	61113349	7	5	272	1	0	1	0	1	0	0	0	0	4228	1103	39	0	1568	0	DAK	11	61113349	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	409781	61113349	73893167	1175	136286											
DAGLA	747	broad.mit.edu	37	chr11	61511485	61511485	+	Frame_Shift_Del	DEL	G	G	-													aggaggaagaggttggcggtGggggtggcgggccggcctcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:61511484_61511484TG>T	uc001nsa.3	+	19	2768	c.2652_2652TG>T	c.(2650-2652)ggtfs	p.G884fs		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	884					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)		AGGTTGGCGGTGGGGGTGGCG	0.721													-	61511485	G	-	61511485	7	5	272	1	0	1	0	1	0	0	0	0	4226	1348	47	0	2727	0	DAGLA	11	61511485	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	398136	61511485	73495031	1176	136287											
C11orf10	746	broad.mit.edu	37	chr11	61557966	61557966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagtgaaaggatacaCgaagaaccaggcggtgaaga	13	8	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:61557966C>T	uc001nsf.2	-	2	167	c.112G>A	c.(112-114)GTT>ATT	p.V38I	FEN1_uc001nsg.2_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	hypothetical protein LOC746	38						integral to membrane				breast(1)	1						AAAGGATACACGAAGAACCAG	0.542													T	61557966	C	T	61557966	3	4	272	1	0	0	0	0	1	0	0	0	1630	550	19	1	135	1	C11orf10	11	61557966	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	46481	61557966	73448550	1177	136288											
ASRGL1	80150	broad.mit.edu	37	chr11	62159723	62159723	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcacttcggaattgaTcctgacgatactactatcac	7	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:62159723T>A	uc001nte.3	+	7	1178	c.894T>A	c.(892-894)GAT>GAA	p.D298E	ASRGL1_uc001ntf.3_Missense_Mutation_p.D298E|ASRGL1_uc001ntg.3_Missense_Mutation_p.D170E	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	298					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TCGGAATTGATCCTGACGATA	0.527											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	62159723	T	A	62159723	3	1	272	1	0	0	0	0	1	0	0	0	1060	1432	50	5	916	5	ASRGL1	11	62159723	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	601757	62159723	72846793	1178	136289											
AHNAK	79026	broad.mit.edu	37	chr11	62298080	62298080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatccacttctcggcccTctcctttgaagccaggcatg	7	16	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:62298080T>C	uc001ntl.2	-	5	4109	c.3809A>G	c.(3808-3810)GAG>GGG	p.E1270G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1270					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTCTCGGCCCTCTCCTTTGAA	0.542													C	62298080	T	C	62298080	3	2	272	1	0	0	0	0	1	0	0	0	414	1551	54	3	13983	3	AHNAK	11	62298080	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	138357	62298080	72708436	1179	136290											
POLR2G	5436	broad.mit.edu	37	chr11	62533156	62533156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaggacgatgagatccGcttaaagattgtggggaccc	13	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:62533156G>A	uc001nva.2	+	6	541	c.431G>A	c.(430-432)CGC>CAC	p.R144H	POLR2G_uc001nvb.2_RNA	NM_002696	NP_002687	P62487	RPB7_HUMAN	DNA directed RNA polymerase II polypeptide G	144					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				0						GATGAGATCCGCTTAAAGATT	0.453													A	62533156	G	A	62533156	3	1	272	1	0	0	0	0	1	0	0	0	12220	1087	38	1	453	1	POLR2G	11	62533156	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	235076	62533156	72473360	1180	136291											
OTUB1	55611	broad.mit.edu	37	chr11	63764564	63764564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaagcagacctctgtcGccgacctgctggcctccttc	11	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:63764564G>A	uc001nyf.1	+	6	1070	c.466G>A	c.(466-468)GCC>ACC	p.A156T	OTUB1_uc001nyg.1_Missense_Mutation_p.A199T|OTUB1_uc010rmz.1_Missense_Mutation_p.A193T|OTUB1_uc010rna.1_Missense_Mutation_p.A165T|OTUB1_uc009ypa.2_Missense_Mutation_p.A55T|OTUB1_uc009ypb.1_Missense_Mutation_p.A126T	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	156	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						GACCTCTGTCGCCGACCTGCT	0.607													A	63764564	G	A	63764564	3	1	272	1	0	0	0	0	1	0	0	0	11311	1087	38	1	488	1	OTUB1	11	63764564	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1231408	63764564	71241952	1181	136292											
PPP1R14B	26472	broad.mit.edu	37	chr11	64012400	64012400	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccccccaggaaatctcttAcctctgtgggtttgtaacag	9	12	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64012400A>G	uc001nza.2	-	3	643	c.375_splice	c.e3+1	p.E125_splice		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B						regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						GAAATCTCTTACCTCTGTGGG	0.597													G	64012400	A	G	64012400	5	3	272	1	0	0	0	0	0	0	1	0	12360	405	14	3	74	3	PPP1R14B	11	64012400	Splice_Site	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	247836	64012400	70994116	1182	136293											
NRXN2	9379	broad.mit.edu	37	chr11	64436033	64436033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggtgtaatcctcctgcGtgtagcctgtggtggtcagg	15	9	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64436033G>A	uc001oar.2	-	9	1680	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	NRXN2_uc001oas.2_Missense_Mutation_p.T383M|NRXN2_uc001oaq.2_Missense_Mutation_p.T81M	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ATCCTCCTGCGTGTAGCCTGT	0.582													A	64436033	G	A	64436033	3	1	272	1	0	0	0	0	1	0	0	0	10666	1145	40	1	4230	1	NRXN2	11	64436033	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	423633	64436033	70570483	1183	136294											
RASGRP2	10235	broad.mit.edu	37	chr11	64502632	64502632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtaagggaagttcccaCggatgatctggaattcttcc	12	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64502632C>T	uc009ypu.2	-	12	1591	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	RASGRP2_uc001oat.2_Missense_Mutation_p.R357H|RASGRP2_uc001oau.2_Missense_Mutation_p.R310H|RASGRP2_uc009ypv.2_Missense_Mutation_p.R455H|RASGRP2_uc009ypw.2_Missense_Mutation_p.R455H	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	455	EF-hand 2.|EF-hand 1.				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				0						GAAGTTCCCACGGATGATCTG	0.537													T	64502632	C	T	64502632	3	4	272	1	0	0	0	0	1	0	0	0	13075	536	19	1	485	1	RASGRP2	11	64502632	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	66599	64502632	70503884	1184	136295											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602606	64602606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttgctctcctgctccTgggccagctctgcttctagc	10	16	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64602606T>G	uc001obs.3	-	17	1973	c.1973A>C	c.(1972-1974)CAG>CCG	p.Q658P		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	658	Potential.				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			lung(3)|central_nervous_system(1)	4						CTCCTGCTCCTGGGCCAGCTC	0.692													G	64602606	T	G	64602606	3	3	272	1	0	0	0	0	1	0	0	0	3074	1580	55	5	2766	5	CDC42BPG	11	64602606	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	99974	64602606	70403910	1185	136296											
EHD1	10938	broad.mit.edu	37	chr11	64627709	64627709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagagccttgatcacttccGagaactcatcggagatgtcc	9	12	3	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64627709G>A	uc001obu.1	-	3	857	c.602C>T	c.(601-603)TCG>TTG	p.S201L	EHD1_uc001obv.1_Missense_Mutation_p.S201L|EHD1_uc010rnq.1_Missense_Mutation_p.S215L	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	201	Potential.				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				0						GATCACTTCCGAGAACTCATC	0.582													A	64627709	G	A	64627709	3	1	272	1	0	0	0	0	1	0	0	0	4977	1059	37	1	1014	1	EHD1	11	64627709	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	25103	64627709	70378807	1186	136297											
ATG2A	23130	broad.mit.edu	37	chr11	64675237	64675237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgttgtagatgctctcGtagacctccttgctgggcag	11	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64675237G>A	uc001obx.2	-	17	2605	c.2490C>T	c.(2488-2490)TAC>TAT	p.Y830Y		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	830							protein binding			ovary(1)|central_nervous_system(1)	2						AGATGCTCTCGTAGACCTCCT	0.632													A	64675237	G	A	64675237	2	1	272	1	0	0	0	0	0	0	0	1	1093	1140	40	1		1	ATG2A	11	64675237	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	47528	64675237	70331279	1187	136298											
C11orf2	738	broad.mit.edu	37	chr11	64875963	64875963	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgagaagctggcggccttCgcccggcagctgggcagccg	17	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64875963C>T	uc001ocr.1	+	5	1060	c.1020C>T	c.(1018-1020)TTC>TTT	p.F340F	C11orf2_uc001ocs.1_Silent_p.F216F	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	340					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGGCGGCCTTCGCCCGGCAGC	0.716													T	64875963	C	T	64875963	2	4	272	1	0	0	0	0	0	0	0	1	1633	883	31	1		1	C11orf2	11	64875963	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	200726	64875963	70130553	1188	136299											
CAPN1	823	broad.mit.edu	37	chr11	64953462	64953462	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggacgggaagctagtgttCgtgcactctgccgaaggcaa	14	9	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64953462C>T	uc009yqd.1	+	5	642	c.531C>T	c.(529-531)TTC>TTT	p.F177F	CAPN1_uc001odf.1_Silent_p.F177F|CAPN1_uc001odg.1_Silent_p.F177F|CAPN1_uc010roa.1_5'UTR	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	177	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCTAGTGTTCGTGCACTCTG	0.617													T	64953462	C	T	64953462	2	4	272	1	0	0	0	0	0	0	0	1	2622	883	31	1		1	CAPN1	11	64953462	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	77499	64953462	70053054	1189	136300											
PCNXL3	399909	broad.mit.edu	37	chr11	65386029	65386029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaacggcagccacccctgcGaagacactctccacctggcc	8	19	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65386029G>A	uc001oey.2	+	6	1196	c.1196G>A	c.(1195-1197)CGA>CAA	p.R399Q		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	399						integral to membrane					0						CCACCCCTGCGAAGACACTCT	0.657													A	65386029	G	A	65386029	3	1	272	1	0	0	0	0	1	0	0	0	11593	1058	37	1	1218	1	PCNXL3	11	65386029	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	432567	65386029	69620487	1190	136301											
PCNXL3	399909	broad.mit.edu	37	chr11	65403107	65403107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagaacgccaagcaggcGcttcgcaacatgatcaactc	8	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65403107G>A	uc001oey.2	+	32	5292	c.5292G>A	c.(5290-5292)GCG>GCA	p.A1764A	PCNXL3_uc001oez.2_Silent_p.A651A	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1764						integral to membrane					0						CCAAGCAGGCGCTTCGCAACA	0.672													A	65403107	G	A	65403107	2	1	272	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCNXL3	11	65403107	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	17078	65403107	69603409	1191	136302											
SNX32	254122	broad.mit.edu	37	chr11	65620191	65620191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaggaaccgggaggtgCggcccgccgagagccaccag	16	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65620191C>T	uc001ofr.2	+	11	1130	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	335	Potential.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		CCGGGAGGTGCGGCCCGCCGA	0.697													T	65620191	C	T	65620191	3	4	272	1	0	0	0	0	1	0	0	0	14902	759	27	1	1045	1	SNX32	11	65620191	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	217084	65620191	69386325	1192	136303											
CTSW	1521	broad.mit.edu	37	chr11	65648955	65648955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaggacttgggcacaGctgagtttggggtgactcca	17	7	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65648955G>A	uc001ogc.1	+	3	292	c.250G>A	c.(250-252)GCT>ACT	p.A84T	CTSW_uc001ogb.1_Missense_Mutation_p.A84T	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	84					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		CTTGGGCACAGCTGAGTTTGG	0.582													A	65648955	G	A	65648955	3	1	272	1	0	0	0	0	1	0	0	0	4042	971	34	2	260	2	CTSW	11	65648955	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	28764	65648955	69357561	1193	136304											
SF3B2	10992	broad.mit.edu	37	chr11	65836146	65836146	+	Splice_Site	DEL	A	A	-													tctctttctccctatacagcAaaaaaaacggaaagctcagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	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						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65836146	A	-	65836146	8	5	272	1	0	1	0	1	0	0	1	0	14151	144	5	0	2704	0	SF3B2	11	65836146	Splice_Site	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	187191	65836146	69170370	1194	136305											
RIN1	9610	broad.mit.edu	37	chr11	66100001	66100001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactccgcccggcggtagaCgaggtagccagtggtgggca	16	13	0	1	rs11227461	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66100001C>T	uc001ohn.1	-	10	2225	c.2098G>A	c.(2098-2100)GTC>ATC	p.V700I	RIN1_uc010roy.1_Missense_Mutation_p.V331I|RIN1_uc009yrd.1_Missense_Mutation_p.V393I|RIN1_uc010roz.1_Missense_Mutation_p.V595I|RIN1_uc010rpa.1_Missense_Mutation_p.V534I	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	700	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CGGCGGTAGACGAGGTAGCCA	0.672													T	66100001	C	T	66100001	3	4	272	1	0	0	0	0	1	0	0	0	13371	536	19	1	257	1	RIN1	11	66100001	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	263855	66100001	68906515	1195	136306											
PELI3	246330	broad.mit.edu	37	chr11	66243212	66243212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaggaggcaaatgcagcGcggccccagtgccccgtggg	17	14	0	0	rs141532058	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66243212G>A	uc001oic.3	+	8	1148	c.984G>A	c.(982-984)GCG>GCA	p.A328A	PELI3_uc001oid.3_Silent_p.A304A|PELI3_uc001oie.3_Silent_p.A179A	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	328						cytosol	protein binding			ovary(1)	1						CAAATGCAGCGCGGCCCCAGT	0.711													A	66243212	G	A	66243212	2	1	272	1	0	0	0	0	0	0	0	1	11723	1074	38	1		1	PELI3	11	66243212	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	143211	66243212	68763304	1196	136307											
DPP3	10072	broad.mit.edu	37	chr11	66260192	66260192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcctctgcaggtttcGtagctgtggtgaacaaggcc	11	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66260192G>A	uc001oig.1	+	10	1056	c.994G>A	c.(994-996)GTA>ATA	p.V332I	DPP3_uc001oif.1_Missense_Mutation_p.V332I|DPP3_uc010rpe.1_Missense_Mutation_p.V321I	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	332					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TGCAGGTTTCGTAGCTGTGGT	0.517													A	66260192	G	A	66260192	3	1	272	1	0	0	0	0	1	0	0	0	4728	1145	40	1	1028	1	DPP3	11	66260192	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	16980	66260192	68746324	1197	136308											
CCS	9973	broad.mit.edu	37	chr11	66372815	66372815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatctcattccagcaccgCggagacctgggcaatgtccg	12	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66372815C>T	uc001oir.2	+	6	538	c.495C>T	c.(493-495)CGC>CGT	p.R165R	CCS_uc001ois.2_RNA	NM_005125	NP_005116	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	165	Superoxide dismutase-like.				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				0						TCCAGCACCGCGGAGACCTGG	0.557													T	66372815	C	T	66372815	2	4	272	1	0	0	0	0	0	0	0	1	2952	755	27	1		1	CCS	11	66372815	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	112623	66372815	68633701	1198	136309											
SPTBN2	6712	broad.mit.edu	37	chr11	66460165	66460165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccagctccttcaggcCggcatacagcttgtccacct	8	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66460165C>T	uc001ojd.2	-	25	5104	c.5032G>A	c.(5032-5034)GGC>AGC	p.G1678S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1678	Spectrin 13.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCCTTCAGGCCGGCATACAGC	0.637													T	66460165	C	T	66460165	3	4	272	1	0	0	0	0	1	0	0	0	15119	652	23	1	2192	1	SPTBN2	11	66460165	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	87350	66460165	68546351	1199	136310											
SPTBN2	6712	broad.mit.edu	37	chr11	66473194	66473194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagggcagaggcgctgaCggcccgcaccctctcggcct	15	17	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66473194C>T	uc001ojd.2	-	13	1840	c.1768G>A	c.(1768-1770)GTC>ATC	p.V590I		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	590	Spectrin 3.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAGGCGCTGACGGCCCGCACC	0.657													T	66473194	C	T	66473194	3	4	272	1	0	0	0	0	1	0	0	0	15119	536	19	1	5504	1	SPTBN2	11	66473194	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13029	66473194	68533322	1200	136311											
PC	5091	broad.mit.edu	37	chr11	66619987	66619987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttgagatcgtgggtgCgcacacgagtggccagcagt	14	9	1	1	rs119103242		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66619987C>T	uc001ojn.1	-	13	1797	c.1748G>A	c.(1747-1749)CGC>CAC	p.R583H	PC_uc001ojo.1_Missense_Mutation_p.R583H|PC_uc001ojp.1_Missense_Mutation_p.R583H|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	583	Carboxyltransferase.		R -> L (in PC deficiency).		gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCGTGGGTGCGCACACGAGT	0.617													T	66619987	C	T	66619987	3	4	272	1	0	0	0	0	1	0	0	0	11497	768	27	1	1824	1	PC	11	66619987	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	146793	66619987	68386529	1201	136312											
SYT12	91683	broad.mit.edu	37	chr11	66816221	66816221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtggcacgctgtccggcGaaactagcaaccagggcggg	15	12	0	0	rs78683901	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66816221G>A	uc009yrl.2	+	8	1489	c.1259G>A	c.(1258-1260)CGA>CAA	p.R420Q	SYT12_uc001oju.2_Missense_Mutation_p.R420Q	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	420	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						GCTGTCCGGCGAAACTAGCAA	0.632													A	66816221	G	A	66816221	3	1	272	1	0	0	0	0	1	0	0	0	15465	1058	37	1	1285	1	SYT12	11	66816221	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	196234	66816221	68190295	1202	136313											
RAD9A	5883	broad.mit.edu	37	chr11	67164978	67164978	+	Frame_Shift_Del	DEL	C	C	-													catcctggcccctgtacgctCcccccagggccccagccctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67164978delC	uc001okr.2	+	11	1217	c.1124delC	c.(1123-1125)TCCfs	p.S375fs	RAD9A_uc001oks.2_Frame_Shift_Del_p.S232fs	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	375	Sufficient for interaction with ABL1.			S->A: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A- 277; A-328; A-341; A-380 and A-387.	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				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCTGTACGCTCCCCCCAGGGC	0.612								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					-	67164978	C	-	67164978	7	5	272	1	0	1	0	1	0	0	0	0	12995	855	30	0	1166	0	RAD9A	11	67164978	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	348757	67164978	67841538	1203	136314											
PTPRCAP	5790	broad.mit.edu	37	chr11	67203412	67203412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggggacctgctctgggctgGacgcctctccacattgctgc	13	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67203412G>A	uc001oli.1	-	2	476	c.413C>T	c.(412-414)TCC>TTC	p.S138F		NM_005608	NP_005599	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type,	138					defense response	integral to membrane|plasma membrane					0			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTCTGGGCTGGACGCCTCTCC	0.677													A	67203412	G	A	67203412	3	1	272	1	0	0	0	0	1	0	0	0	12798	1174	41	4	211	4	PTPRCAP	11	67203412	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	38434	67203412	67803104	1204	136315											
CABP4	57010	broad.mit.edu	37	chr11	67223140	67223140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagaggggccggcgggCgcaccccctgcatcccctgg	16	16	0	1	rs147329388		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67223140C>T	uc001olo.2	+	1	323	c.246C>T	c.(244-246)GGC>GGT	p.G82G	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	82					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCGGCGGGCGCACCCCCTG	0.701													T	67223140	C	T	67223140	2	4	272	1	0	0	0	0	0	0	0	1	2533	755	27	1		1	CABP4	11	67223140	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	19728	67223140	67783376	1205	136316											
SUV420H1	51111	broad.mit.edu	37	chr11	67926241	67926241	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctccccctgcgaatgagcAcctctcacaggattctgtct	7	16	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67926241A>G	uc001onm.1	-	11	1828	c.1572T>C	c.(1570-1572)GGT>GGC	p.G524G	SUV420H1_uc009yse.1_Silent_p.G110G|SUV420H1_uc001onn.1_Silent_p.G352G|SUV420H1_uc009ysf.2_Silent_p.G284G	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						GCGAATGAGCACCTCTCACAG	0.557													G	67926241	A	G	67926241	2	3	272	1	0	0	0	0	0	0	0	1	15411	146	6	3		3	SUV420H1	11	67926241	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	703101	67926241	67080275	1206	136317											
LRP5	4041	broad.mit.edu	37	chr11	68125314	68125314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacctggacggctcgttcCggtaggtacccacgcagtcc	11	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:68125314C>T	uc001ont.2	+	3	760	c.685C>T	c.(685-687)CGG>TGG	p.R229W	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	229	Beta-propeller 1.|LDL-receptor class B 4.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGGCTCGTTCCGGTAGGTACC	0.587													T	68125314	C	T	68125314	3	4	272	1	0	0	0	0	1	0	0	0	8960	666	23	1	695	1	LRP5	11	68125314	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	199073	68125314	66881202	1207	136318											
IGHMBP2	3508	broad.mit.edu	37	chr11	68701933	68701933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctttctttccctccaggCgaagtccgcctcgtcagttt	8	14	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:68701933C>T	uc001ook.1	+	11	1641	c.1539C>T	c.(1537-1539)GGC>GGT	p.G513G	IGHMBP2_uc001ool.1_Silent_p.G137G|IGHMBP2_uc001oom.1_Silent_p.G91G	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	513					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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCCTCCAGGCGAAGTCCGCC	0.582													T	68701933	C	T	68701933	2	4	272	1	0	0	0	0	0	0	0	1	7591	782	27	1		1	IGHMBP2	11	68701933	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	576619	68701933	66304583	1208	136319											
SHANK2	22941	broad.mit.edu	37	chr11	70338532	70338532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatgttctcagcagcgcGggagggcttggaggccggga	18	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:70338532G>A	uc001oqc.2	-	18	2425	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C	SHANK2_uc010rqn.1_Missense_Mutation_p.R195C|SHANK2_uc001opz.2_Missense_Mutation_p.R188C|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.R185C|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_5'UTR	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	404					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAGCAGCGCGGGAGGGCTTG	0.617													A	70338532	G	A	70338532	3	1	272	1	0	0	0	0	1	0	0	0	14265	1116	39	1	3222	1	SHANK2	11	70338532	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1636599	70338532	64667984	1209	136320											
C11orf51	25906	broad.mit.edu	37	chr11	71822259	71822259	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctcttccacacagggtcGatccagattaaaccacagag	8	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:71822259G>A	uc001orw.2	-	3	286	c.64C>T	c.(64-66)CGA>TGA	p.R22*	C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Nonsense_Mutation_p.R22*	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	22						intracellular					0						ACACAGGGTCGATCCAGATTA	0.542													A	71822259	G	A	71822259	4	1	272	1	0	0	0	0	0	1	0	0	1646	1066	37	1	317	1	C11orf51	11	71822259	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1483727	71822259	63184257	1210	136321											
ATG16L2	89849	broad.mit.edu	37	chr11	72540364	72540364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgctgccgtcaacgccGtggcctggtgctactccggg	14	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:72540364G>A	uc001otd.2	+	18	1829	c.1789G>A	c.(1789-1791)GTG>ATG	p.V597M	ATG16L2_uc001ote.2_Missense_Mutation_p.V491M|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.V352M|ATG16L2_uc001otg.2_Missense_Mutation_p.V331M|ATG16L2_uc009ytk.2_Missense_Mutation_p.V318M	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	597	WD 7.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			cGTCAACGCCGTGGCCTGGTG	0.368													A	72540364	G	A	72540364	3	1	272	1	0	0	0	0	1	0	0	0	1092	1145	40	1	1859	1	ATG16L2	11	72540364	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	718105	72540364	62466152	1211	136322											
RELT	84957	broad.mit.edu	37	chr11	73101832	73101832	+	Frame_Shift_Del	DEL	C	C	-													ggcacattatgcaggccctgCcccccaggcaccttctcagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:73101831_73101831GC>G	uc001otv.3	+	3	317	c.152_152GC>G	c.(151-153)tgcfs	p.C51fs	RELT_uc001otw.3_Frame_Shift_Del_p.C51fs|RELT_uc009yto.1_5'UTR|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	51						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						TGCAGGCCCTGCCCCCCAGGC	0.672													-	73101832	C	-	73101832	7	5	272	1	0	1	0	1	0	0	0	0	13221	747	26	0	163	0	RELT	11	73101832	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	561468	73101832	61904684	1212	136323											
RNF169	254225	broad.mit.edu	37	chr11	74547254	74547254	+	Frame_Shift_Del	DEL	G	G	-													gctgttcctcagaactcaaaGggggaggcagtgggacttct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:74547253_74547253AG>A	uc001ovl.4	+	5	1618	c.1605_1605AG>A	c.(1603-1605)aaafs	p.K535fs	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	535							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGAACTCAAAGGGGGAGGCA	0.473													-	74547254	G	-	74547254	7	5	272	1	0	1	0	1	0	0	0	0	13460	1000	35	0	1628	0	RNF169	11	74547254	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1445422	74547254	60459262	1213	136324											
SLCO2B1	11309	broad.mit.edu	37	chr11	74914466	74914466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacaataatgacctgctccGaaaccggtgagacctggttt	9	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:74914466G>A	uc001owb.2	+	13	2330	c.1943G>A	c.(1942-1944)CGA>CAA	p.R648Q	SLCO2B1_uc010rrr.1_Missense_Mutation_p.R504Q|SLCO2B1_uc010rrs.1_Missense_Mutation_p.R532Q|SLCO2B1_uc001owc.2_Missense_Mutation_p.R421Q|SLCO2B1_uc001owd.2_Missense_Mutation_p.R626Q	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	648	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	GACCTGCTCCGAAACCGGTGA	0.577													A	74914466	G	A	74914466	3	1	272	1	0	0	0	0	1	0	0	0	14727	1058	37	1	1993	1	SLCO2B1	11	74914466	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	367212	74914466	60092050	1214	136325											
DGAT2	84649	broad.mit.edu	37	chr11	75501723	75501723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggcaggaggtcacagTgggtccgaaactgggctgtg	18	7	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:75501723T>C	uc001oxa.2	+	4	635	c.376T>C	c.(376-378)TGG>CGG	p.W126R	DGAT2_uc001oxb.2_Missense_Mutation_p.W83R	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	126	Cytoplasmic (Potential).				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	Ovarian(111;0.103)					GAGGTCACAGTGGGTCCGAAA	0.537													C	75501723	T	C	75501723	3	2	272	1	0	0	0	0	1	0	0	0	4458	1696	59	3	390	3	DGAT2	11	75501723	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	587257	75501723	59504793	1215	136326											
B3GNT6	192134	broad.mit.edu	37	chr11	76751075	76751075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttctattgggcaccccGggccccgaggacgaggcgcg	14	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:76751075G>A	uc001oxw.2	+	2	568	c.480G>A	c.(478-480)CCG>CCA	p.P160P		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	160	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						TGGGCACCCCGGGCCCCGAGG	0.741													A	76751075	G	A	76751075	2	1	272	1	0	0	0	0	0	0	0	1	1261	1103	39	1		1	B3GNT6	11	76751075	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1249352	76751075	58255441	1216	136327											
INTS4	92105	broad.mit.edu	37	chr11	77667073	77667073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacgcatcatcaactaagCgtatttcttcattagaagaa	5	9	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:77667073C>T	uc001oys.2	-	8	861	c.833G>A	c.(832-834)CGC>CAC	p.R278H	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.R278H	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	278	HEAT 5.				snRNA processing	integrator complex	protein binding			ovary(2)	2	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)			ATCAACTAAGCGTATTTCTTC	0.373													T	77667073	C	T	77667073	3	4	272	1	0	0	0	0	1	0	0	0	7780	768	27	1	2122	1	INTS4	11	77667073	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	915998	77667073	57339443	1217	136328											
USP35	57558	broad.mit.edu	37	chr11	77920763	77920763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgccccacagaagacaTcacagcccgggagttgcccc	11	16	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:77920763T>C	uc009yva.1	+	10	2108	c.1862T>C	c.(1861-1863)ATC>ACC	p.I621T	USP35_uc001oze.2_Missense_Mutation_p.I377T|USP35_uc001ozc.2_Missense_Mutation_p.I189T|USP35_uc010rsp.1_Missense_Mutation_p.I53T|USP35_uc001ozd.2_Missense_Mutation_p.I232T|USP35_uc001ozf.2_Missense_Mutation_p.I352T	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	621					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	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)			ACAGAAGACATCACAGCCCGG	0.677													C	77920763	T	C	77920763	3	2	272	1	0	0	0	0	1	0	0	0	17063	1435	50	3	1896	3	USP35	11	77920763	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	253690	77920763	57085753	1218	136329											
ODZ4	26011	broad.mit.edu	37	chr11	78369635	78369635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaagatggcagcaaccCttcgcccatcctcattggcc	9	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:78369635C>A	uc001ozl.3	-	34	8241	c.7778G>T	c.(7777-7779)AGG>ATG	p.R2593M	ODZ4_uc001ozk.3_Missense_Mutation_p.R818M|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2593	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GGCAGCAACCCTTCGCCCATC	0.527													A	78369635	C	A	78369635	3	1	272	1	0	0	0	0	1	0	0	0	10837	681	24	5	535	5	ODZ4	11	78369635	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	448872	78369635	56636881	1219	136330											
ODZ4	26011	broad.mit.edu	37	chr11	78413245	78413245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgaaacagccaaagcGgtggctgactccagggttgc	14	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:78413245G>A	uc001ozl.3	-	28	4876	c.4413C>T	c.(4411-4413)ACC>ACT	p.T1471T	ODZ4_uc009yvb.1_Silent_p.T55T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1471	Extracellular (Potential).			T -> I (in Ref. 4; CAE45850).	signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CAGCCAAAGCGGTGGCTGACT	0.557													A	78413245	G	A	78413245	2	1	272	1	0	0	0	0	0	0	0	1	10837	1103	39	1		1	ODZ4	11	78413245	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	43610	78413245	56593271	1220	136331											
PCF11	51585	broad.mit.edu	37	chr11	82878523	82878523	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgttgttgtgcatcaaattCgacagctatttcagtatcaa	7	7	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:82878523C>T	uc001ozx.3	+	7	2413	c.2068C>T	c.(2068-2070)CGA>TGA	p.R690*	PCF11_uc010rsu.1_Nonsense_Mutation_p.R690*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	690					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GCATCAAATTCGACAGCTATT	0.353													T	82878523	C	T	82878523	4	4	272	1	0	0	0	0	0	1	0	0	11573	876	31	1	2094	1	PCF11	11	82878523	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4465278	82878523	52127993	1221	136332											
DLG2	1740	broad.mit.edu	37	chr11	84245742	84245742	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaggtaaggaatgatcAtgtggagcgtcctcatcttg	13	7	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:84245742A>G	uc001paj.2	-	2	378	c.75T>C	c.(73-75)CAT>CAC	p.H25H	DLG2_uc010rsz.1_Silent_p.H25H|DLG2_uc010rta.1_Silent_p.H25H|DLG2_uc001pak.2_Silent_p.H130H|DLG2_uc001pal.1_Silent_p.H25H	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	25						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGAATGATCATGTGGAGCGT	0.388													G	84245742	A	G	84245742	2	3	272	1	0	0	0	0	0	0	0	1	4555	214	8	3		3	DLG2	11	84245742	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1367219	84245742	50760774	1222	136333											
CCDC89	220388	broad.mit.edu	37	chr11	85396954	85396954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatgcagatgagctgggActgctcttcaatgcgggagc	15	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:85396954A>G	uc001pau.1	-	1	367	c.220T>C	c.(220-222)TCC>CCC	p.S74P		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	74	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATGAGCTGGGACTGCTCTTCA	0.587													G	85396954	A	G	85396954	3	3	272	1	0	0	0	0	1	0	0	0	2866	275	10	3	908	3	CCDC89	11	85396954	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1151212	85396954	49609562	1223	136334											
FAT3	120114	broad.mit.edu	37	chr11	92590502	92590502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtccaccagggaagctcGgagagtgctcaggtgcagag	16	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:92590502G>A	uc001pdj.3	+	19	11505	c.11488G>A	c.(11488-11490)GGA>AGA	p.G3830R	FAT3_uc001pdi.3_Missense_Mutation_p.G270R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3830	EGF-like 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGAAGCTCGGAGAGTGCTC	0.517										TCGA Ovarian(4;0.039)			A	92590502	G	A	92590502	3	1	272	1	0	0	0	0	1	0	0	0	5691	1117	39	1	11562	1	FAT3	11	92590502	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7193548	92590502	42416014	1224	136335											
C11orf54	28970	broad.mit.edu	37	chr11	93494710	93494710	+	Frame_Shift_Del	DEL	T	T	-													ttgcgactggagcacactcaTttttttagtcgtcatggaga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:93494709_93494709AT>A	uc001peh.3	+	8	997	c.803_803AT>A	c.(802-804)catfs	p.H268fs	C11orf54_uc001pef.3_Frame_Shift_Del_p.H218fs|C11orf54_uc009ywi.3_Frame_Shift_Del_p.H268fs|C11orf54_uc001peg.3_Frame_Shift_Del_p.H268fs|C11orf54_uc001pei.3_Frame_Shift_Del_p.H249fs|C11orf54_uc001pej.3_Frame_Shift_Del_p.H249fs|C11orf54_uc001pek.3_Frame_Shift_Del_p.H157fs	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	268						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)				GAGCACACTCATTTTTTTAGT	0.373													-	93494710	T	-	93494710	7	5	272	1	0	1	0	1	0	0	0	0	1649	1490	52	0	680	0	C11orf54	11	93494710	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	904208	93494710	41511806	1225	136336											
FAM76B	143684	broad.mit.edu	37	chr11	95513059	95513059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctctgtttccacagtcCctgctcttcttctggactta	5	14	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:95513059C>T	uc001pfn.2	-	6	907	c.595G>A	c.(595-597)GGA>AGA	p.G199R	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	199											0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCACAGTCCCTGCTCTTCT	0.279													T	95513059	C	T	95513059	3	4	272	1	0	0	0	0	1	0	0	0	5625	632	22	4	444	4	FAM76B	11	95513059	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2018349	95513059	39493457	1226	136337											
ANGPTL5	253935	broad.mit.edu	37	chr11	101765644	101765645	+	Frame_Shift_Ins	INS	-	-	A													accgtcctaagtgcattttaINSaaaaatctcgtttcatcctc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:101765643_101765644T>TA	uc001pgl.3	-	7	1409_1410	c.813_814A>TA	c.(811-816)tttaaafs	p.F271fs		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	271	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding	p.F271F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AAGTGCATTTTAAAAAATCTCG	0.317													A	101765645	-	A	101765644	7	5	272	1	0	1	1	0	0	0	0	0	617	359	13	0	361	0	ANGPTL5	11	101765644	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	6252585	101765644	33240872	1227	136338											
KIAA1377	57562	broad.mit.edu	37	chr11	101849177	101849177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtaggacagaagtacaGtgagcaaattaatgtaagta	10	4	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:101849177G>A	uc001pgm.2	+	7	3215	c.2945G>A	c.(2944-2946)AGT>AAT	p.S982N	KIAA1377_uc001pgn.2_Missense_Mutation_p.S938N|KIAA1377_uc010run.1_Missense_Mutation_p.S783N	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	982							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGAAGTACAGTGAGCAAATT	0.343													A	101849177	G	A	101849177	3	1	272	1	0	0	0	0	1	0	0	0	8227	1029	36	4	2971	4	KIAA1377	11	101849177	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	83533	101849177	33157339	1228	136339											
MMP12	4321	broad.mit.edu	37	chr11	102738713	102738713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacatatttgtaggtgGggaacattacggcctttgga	12	6	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:102738713G>T	uc001phk.2	-	6	758	c.713C>A	c.(712-714)CCC>CAC	p.P238H		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	238					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				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTTGTAGGTGGGGAACATTAC	0.448													T	102738713	G	T	102738713	3	4	272	1	0	0	0	0	1	0	0	0	9651	1232	43	5	723	5	MMP12	11	102738713	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	889536	102738713	32267803	1229	136340											
MMP13	4322	broad.mit.edu	37	chr11	102825278	102825278	+	Frame_Shift_Del	DEL	T	T	-													tcggaccaaactttgaaggcTtttttgaatgccttttcgac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:102825277_102825277CT>C	uc001phl.3	-	2	450	c.421_421AG>G	c.(421-423)gccfs	p.A141fs		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	141					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)		ACTTTGAAGGCTTTTTTGAAT	0.368													-	102825278	T	-	102825278	7	5	272	1	0	1	0	1	0	0	0	0	9652	1606	56	0	1027	0	MMP13	11	102825278	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	86565	102825278	32181238	1230	136341											
MMP13	4322	broad.mit.edu	37	chr11	102826023	102826023	+	Frame_Shift_Del	DEL	A	A	-													accatttaagagttcgagggAaaacattgtattcacccaca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:102826022_102826022GA>G	uc001phl.3	-	1	350	c.321_321TC>C	c.(319-321)ttcfs	p.F107fs		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	107					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)		GAGTTCGAGGGAAAACATTGT	0.378													-	102826023	A	-	102826023	7	5	272	1	0	1	0	1	0	0	0	0	9652	246	9	0	1131	0	MMP13	11	102826023	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	745	102826023	32180493	1231	136342											
PDGFD	80310	broad.mit.edu	37	chr11	103780444	103780444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgaggtggtcttgagctgCagatacaatcacatcgttca	10	9	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:103780444C>T	uc001phq.2	-	7	1463	c.1091G>A	c.(1090-1092)TGC>TAC	p.C364Y	PDGFD_uc001php.2_Missense_Mutation_p.C358Y	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	364					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		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)		TCTTGAGCTGCAGATACAATC	0.453													T	103780444	C	T	103780444	3	4	272	1	0	0	0	0	1	0	0	0	11660	710	25	2	25	2	PDGFD	11	103780444	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	954421	103780444	31226072	1232	136343											
RAB39	54734	broad.mit.edu	37	chr11	107799501	107799501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctacagctctgggacacGgcgggacaggagcggttcag	16	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107799501G>A	uc001pjt.2	+	1	225	c.207G>A	c.(205-207)ACG>ACA	p.T69T		NM_017516	NP_059986	Q14964	RB39A_HUMAN	RAB39, member RAS oncogene family	69	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0				BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)		TCTGGGACACGGCGGGACAGG	0.736													A	107799501	G	A	107799501	2	1	272	1	0	0	0	0	0	0	0	1	12929	1103	39	1		1	RAB39	11	107799501	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4019057	107799501	27207015	1233	136344											
CUL5	8065	broad.mit.edu	37	chr11	107944205	107944207	+	In_Frame_Del	DEL	TTC	TTC	-													ttttcaagatgatccacgatTtcttactgcaagagataagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107944204_107944206TTTC>T	uc001pjv.3	+	9	1760_1762	c.1093_1095TTTC>T	c.(1093-1095)ttt>T	p.F365del	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	365					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|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)		TGATCCACGATTTCTTACTGCAA	0.266													-	107944207	TTC	-	107944205	7	5	272	1	0	1	0	1	0	0	0	0	4059	1841	64	0	1132	0	CUL5	11	107944205	In_Frame_Del	DEL	TTC	TCGA-HU-A4GQ-01A-11D-A25D-08	144704	107944205	27062311	1234	136345											
CUL5	8065	broad.mit.edu	37	chr11	107960253	107960253	+	Frame_Shift_Del	DEL	T	T	-													gtatgtacagaacaaagatgTttttatgaggtatcataaag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107960252_107960252GT>G	uc001pjv.3	+	12	2012	c.1345_1345GT>G	c.(1345-1347)gttfs	p.V449fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	449					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|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)		GAACAAAGATGTTTTTATGAG	0.338													-	107960253	T	-	107960253	7	5	272	1	0	1	0	1	0	0	0	0	4059	1725	60	0	1396	0	CUL5	11	107960253	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	16048	107960253	27046263	1235	136346											
CUL5	8065	broad.mit.edu	37	chr11	107968391	107968391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttcccaaaactcaaacGgcaagttttgttgtatgaac	7	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107968391G>A	uc001pjv.2	+	17	2601	c.1934G>A	c.(1933-1935)CGG>CAG	p.R645Q	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	645					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			ovary(1)	1		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)		AAACTCAAACGGCAAGTTTTG	0.373													A	107968391	G	A	107968391	3	1	272	1	0	0	0	0	1	0	0	0	4059	1116	39	1	2000	1	CUL5	11	107968391	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	8138	107968391	27038125	1236	136347											
DDX10	1662	broad.mit.edu	37	chr11	108594061	108594061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcctaacaccagtgagGcacagaagatcaaggaagtt	9	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:108594061G>A	uc001pkm.2	+	13	1902	c.1837G>A	c.(1837-1839)GCA>ACA	p.A613T	DDX10_uc001pkl.1_Missense_Mutation_p.A613T	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	613							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(1)		breast(2)|lung(1)|prostate(1)	4		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)		CACCAGTGAGGCACAGAAGAT	0.363			T	NUP98	AML*								A	108594061	G	A	108594061	3	1	272	1	0	0	0	0	1	0	0	0	4342	1203	42	2	1887	2	DDX10	11	108594061	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	625670	108594061	26412455	1237	136348											
DRD2	1813	broad.mit.edu	37	chr11	113283448	113283448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccattcttctctggtttgGcggggctgtcgggagtgctg	16	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:113283448G>A	uc001pnz.2	-	6	1289	c.968C>T	c.(967-969)GCC>GTC	p.A323V	DRD2_uc010rwv.1_Missense_Mutation_p.A322V|DRD2_uc001poa.3_Missense_Mutation_p.A323V|DRD2_uc001pob.3_Missense_Mutation_p.A294V	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	323	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		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)	CTCTGGTTTGGCGGGGCTGTC	0.612													A	113283448	G	A	113283448	3	1	272	1	0	0	0	0	1	0	0	0	4757	1203	42	2	371	2	DRD2	11	113283448	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4689387	113283448	21723068	1238	136349											
USP28	57646	broad.mit.edu	37	chr11	113679043	113679043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcagtgccgcttctacacCgctcttctcataggcacggg	9	15	4	0	rs143699311		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:113679043C>T	uc001poh.2	-	18	2314	c.2281G>A	c.(2281-2283)GGT>AGT	p.G761S	USP28_uc001pog.2_Missense_Mutation_p.G469S|USP28_uc010rwy.1_Missense_Mutation_p.G636S|USP28_uc001poi.2_Missense_Mutation_p.G116S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	761					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			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		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)		GCTTCTACACCGCTCTTCTCA	0.522													T	113679043	C	T	113679043	3	4	272	1	0	0	0	0	1	0	0	0	17055	652	23	1	984	1	USP28	11	113679043	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	395595	113679043	21327473	1239	136350											
BUD13	84811	broad.mit.edu	37	chr11	116619250	116619250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctccactgccttcttgCtggcaagcctggcaaagcgc	10	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:116619250C>T	uc001ppn.2	-	10	1842	c.1808G>A	c.(1807-1809)AGC>AAC	p.S603N	BUD13_uc001ppo.2_Missense_Mutation_p.S469N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	603										large_intestine(1)|pancreas(1)	2	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)		TGCCTTCTTGCTGGCAAGCCT	0.488													T	116619250	C	T	116619250	3	4	272	1	0	0	0	0	1	0	0	0	1573	797	28	2	55	2	BUD13	11	116619250	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2940207	116619250	18387266	1240	136351											
SIK3	23387	broad.mit.edu	37	chr11	116729395	116729395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggtcgtagttagcagggGagaaccgattcacgttcaag	13	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:116729395G>A	uc001ppy.2	-	20	2504	c.2468C>T	c.(2467-2469)TCC>TTC	p.S823F	SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Missense_Mutation_p.S126F	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	823	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GTTAGCAGGGGAGAACCGATT	0.547													A	116729395	G	A	116729395	3	1	272	1	0	0	0	0	1	0	0	0	14319	1174	41	4	1339	4	SIK3	11	116729395	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	110145	116729395	18277121	1241	136352											
CEP164	22897	broad.mit.edu	37	chr11	117209321	117209321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggctggacgacccctcCgcataggagatcagctggtt	12	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117209321C>T	uc001prc.2	+	3	166	c.19C>T	c.(19-21)CGC>TGC	p.R7C	CEP164_uc001prb.2_Missense_Mutation_p.R7C|CEP164_uc001prd.2_Missense_Mutation_p.R7C|CEP164_uc010rxj.1_Intron|CEP164_uc010rxk.1_Missense_Mutation_p.R7C	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	7	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		ACGACCCCTCCGCATAGGAGA	0.488													T	117209321	C	T	117209321	3	4	272	1	0	0	0	0	1	0	0	0	3249	652	23	1	21	1	CEP164	11	117209321	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	479926	117209321	17797195	1242	136353											
CEP164	22897	broad.mit.edu	37	chr11	117232594	117232594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatgttcctcttggggGcctggctcctttacgaggtc	12	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117232594G>A	uc001prc.2	+	6	584	c.437G>A	c.(436-438)GGC>GAC	p.G146D	CEP164_uc001prb.2_Missense_Mutation_p.G146D|CEP164_uc010rxk.1_Missense_Mutation_p.G146D|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	146	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		CCTCTTGGGGGCCTGGCTCCT	0.542													A	117232594	G	A	117232594	3	1	272	1	0	0	0	0	1	0	0	0	3249	1203	42	2	451	2	CEP164	11	117232594	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	23273	117232594	17773922	1243	136354											
DSCAML1	57453	broad.mit.edu	37	chr11	117308780	117308780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcctcgctgttgtccacCgagtactgtagcacgaagcc	9	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117308780C>T	uc001prh.1	-	25	4445	c.4443G>A	c.(4441-4443)TCG>TCA	p.S1481S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1421	Fibronectin type-III 5.|Extracellular (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		TGTTGTCCACCGAGTACTGTA	0.612													T	117308780	C	T	117308780	2	4	272	1	0	0	0	0	0	0	0	1	4769	639	23	1		1	DSCAML1	11	117308780	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	76186	117308780	17697736	1244	136355											
DSCAML1	57453	broad.mit.edu	37	chr11	117335865	117335865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccaatctggtagccccGgatgacaccgttctgcagct	11	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117335865G>A	uc001prh.1	-	17	3240	c.3238C>T	c.(3238-3240)CGG>TGG	p.R1080W		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1020	Extracellular (Potential).|Fibronectin type-III 2.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		TGGTAGCCCCGGATGACACCG	0.517													A	117335865	G	A	117335865	3	1	272	1	0	0	0	0	1	0	0	0	4769	1115	39	1	3171	1	DSCAML1	11	117335865	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	27085	117335865	17670651	1245	136356											
MLL	4297	broad.mit.edu	37	chr11	118352503	118352503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcagtgttgtgaagaaCgtggtggactctagtcagaa	15	5	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118352503C>T	uc001pta.2	+	7	3731	c.3708C>T	c.(3706-3708)AAC>AAT	p.N1236N	MLL_uc001ptb.2_Silent_p.N1236N|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Translation_Start_Site	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1236					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTGTGAAGAACGTGGTGGACT	0.463			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								T	118352503	C	T	118352503	2	4	272	1	0	0	0	0	0	0	0	1	9620	535	19	1		1	MLL	11	118352503	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1016638	118352503	16654013	1246	136357											
PHLDB1	23187	broad.mit.edu	37	chr11	118499338	118499338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgacagcgccaagagcGgctccgggagcaggagatgg	18	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118499338G>A	uc001ptr.1	+	7	2152	c.1799G>A	c.(1798-1800)CGG>CAG	p.R600Q	PHLDB1_uc001pts.2_Missense_Mutation_p.R600Q|PHLDB1_uc001ptt.2_Missense_Mutation_p.R600Q|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R400Q|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	600											0	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)		CGCCAAGAGCGGCTCCGGGAG	0.627													A	118499338	G	A	118499338	3	1	272	1	0	0	0	0	1	0	0	0	11851	1116	39	1	1817	1	PHLDB1	11	118499338	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	146835	118499338	16507178	1247	136358											
DDX6	1656	broad.mit.edu	37	chr11	118629614	118629615	+	Splice_Site	INS	-	-	G													ttctgcaaatgggaattctgINSgggggggagcgggaaaaaga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								G	118629615	-	G	118629614	8	5	272	1	0	1	1	0	0	0	1	0	4377	1363	47	0		0	DDX6	11	118629614	Splice_Site	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	130276	118629614	16376902	1248	136359											
BCL9L	283149	broad.mit.edu	37	chr11	118772509	118772509	+	Frame_Shift_Del	DEL	C	C	-													tctgggcaaaattgctgggtCcccccatagggggcaagtct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118772508_118772508TC>T	uc001pug.3	-	5	2909	c.1944_1944GA>A	c.(1942-1944)ggafs	p.G648fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.G643fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	648					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)		AATTGCTGGGTCCCCCCATAG	0.642													-	118772509	C	-	118772509	7	5	272	1	0	1	0	1	0	0	0	0	1382	855	30	0	2568	0	BCL9L	11	118772509	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	142895	118772509	16234007	1249	136360											
VPS11	55823	broad.mit.edu	37	chr11	118948655	118948655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagagcaacatgaagcGctacggcaagatcctcatgc	12	11	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118948655G>A	uc010ryx.1	+	11	1682	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	VPS11_uc010ryy.1_Missense_Mutation_p.R393H	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	547	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	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)		AACATGAAGCGCTACGGCAAG	0.502													A	118948655	G	A	118948655	3	1	272	1	0	0	0	0	1	0	0	0	17185	1087	38	1	1677	1	VPS11	11	118948655	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	176146	118948655	16057861	1250	136361											
C1QTNF5	114902	broad.mit.edu	37	chr11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C													ggctccagcctcaccatggcINScccccccgagagcgaggctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													C	119210191	-	C	119210190	7	5	272	1	0	1	1	0	0	0	0	0	1966	739	26	0	152	0	C1QTNF5	11	119210190	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	261535	119210190	15796326	1251	136362											
ETS1	2113	broad.mit.edu	37	chr11	128350145	128350145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccttattgaggtcagcaCggtcccgcacatagtccttg	10	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:128350145C>T	uc010sbs.1	-	6	1248	c.932G>A	c.(931-933)CGT>CAT	p.R311H	ETS1_uc001qej.2_Missense_Mutation_p.R355H|ETS1_uc009zch.2_Missense_Mutation_p.R95H|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	311					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGGTCAGCACGGTCCCGCAC	0.597													T	128350145	C	T	128350145	3	4	272	1	0	0	0	0	1	0	0	0	5275	536	19	1	405	1	ETS1	11	128350145	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	9139955	128350145	6656371	1252	136363											
FLI1	2313	broad.mit.edu	37	chr11	128680442	128680442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacctgggaggggaccaaCggggagttcaaaatgacgga	15	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:128680442C>T	uc010sbu.1	+	9	1259	c.918C>T	c.(916-918)AAC>AAT	p.N306N	FLI1_uc010sbt.1_Silent_p.N113N|FLI1_uc010sbv.1_Silent_p.N273N|FLI1_uc009zci.2_Silent_p.N240N	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	306	ETS.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	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)		AGGGGACCAACGGGGAGTTCA	0.632			T	EWSR1	Ewing sarcoma								T	128680442	C	T	128680442	2	4	272	1	0	0	0	0	0	0	0	1	5924	535	19	1		1	FLI1	11	128680442	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	330297	128680442	6326074	1253	136364											
ARHGAP32	9743	broad.mit.edu	37	chr11	128993399	128993399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacattcagccatcttcGgaaagtgacctttagtgaag	10	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:128993399G>A	uc009zcp.2	-	4	344	c.344C>T	c.(343-345)CCG>CTG	p.P115L	ARHGAP32_uc009zcq.1_Missense_Mutation_p.P75L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	115					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			lung(3)|ovary(2)	5						AGCCATCTTCGGAAAGTGACC	0.338													A	128993399	G	A	128993399	3	1	272	1	0	0	0	0	1	0	0	0	881	1116	39	1	5995	1	ARHGAP32	11	128993399	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	312957	128993399	6013117	1254	136365											
VPS26B	112936	broad.mit.edu	37	chr11	134109913	134109913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgctaccatcagccgcCgcctcaatgatgttgtcaaa	8	13	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:134109913C>T	uc001qhe.2	+	3	865	c.409C>T	c.(409-411)CGC>TGC	p.R137C		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	137					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CATCAGCCGCCGCCTCAATGA	0.463													T	134109913	C	T	134109913	3	4	272	1	0	0	0	0	1	0	0	0	17195	652	23	1	419	1	VPS26B	11	134109913	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5116514	134109913	896603	1255	136366											
ACAD8	27034	broad.mit.edu	37	chr11	134126526	134126526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatggctccaaatatggCagagtgggaccagaaggtag	15	6	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:134126526C>T	uc001qhk.2	+	2	255	c.194C>T	c.(193-195)GCA>GTA	p.A65V	ACAD8_uc009zdc.2_Nonsense_Mutation_p.Q24*|ACAD8_uc010sco.1_Nonsense_Mutation_p.Q24*|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Intron|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.A27V|ACAD8_uc009zde.1_5'Flank	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	65					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				0	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)		CCAAATATGGCAGAGTGGGAC	0.448													T	134126526	C	T	134126526	3	4	272	1	0	0	0	0	1	0	0	0	110	710	25	2	200	2	ACAD8	11	134126526	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	16613	134126526	879990	1256	136367											
WNK1	65125	broad.mit.edu	37	chr12	995198	995198	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccagtcagcactactacatCaggagtgaaacctggaactg	9	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:995198C>T	uc001qio.3	+	19	5735	c.5228C>T	c.(5227-5229)TCA>TTA	p.S1743L	WNK1_uc001qip.3_Missense_Mutation_p.S1496L|WNK1_uc001qir.3_Missense_Mutation_p.S916L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1743					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	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)			ACTACTACATCAGGAGTGAAA	0.418													T	995198	C	T	995198	3	4	272	1	0	0	0	0	1	0	0	0	17374	838	29	4	6804	4	WNK1	12	995198	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		995198	132856697	1257	136368											
WNT5B	81029	broad.mit.edu	37	chr12	1748963	1748963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgcagccggacggcgCggcccaaggacctgccccgg	17	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:1748963C>T	uc009zdq.2	+	4	684	c.442C>T	c.(442-444)CGG>TGG	p.R148W	WNT5B_uc001qjj.2_Missense_Mutation_p.R148W|WNT5B_uc001qjk.2_Missense_Mutation_p.R148W|WNT5B_uc001qjl.2_Missense_Mutation_p.R148W	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	148					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)			CCGGACGGCGCGGCCCAAGGA	0.731													T	1748963	C	T	1748963	3	4	272	1	0	0	0	0	1	0	0	0	17389	759	27	1	452	1	WNT5B	12	1748963	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	753765	1748963	132102932	1258	136369											
CACNA1C	775	broad.mit.edu	37	chr12	2795387	2795387	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacagaaggaccgagggggAgacatctctcagaagacagt	14	9	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:2795387A>G	uc009zdu.1	+	48	6298	c.5985A>G	c.(5983-5985)GGA>GGG	p.G1995G	CACNA1C_uc009zdv.1_Silent_p.G1909G|CACNA1C_uc001qkb.2_Silent_p.G1912G|CACNA1C_uc001qkc.2_Silent_p.G1931G|CACNA1C_uc001qke.2_Silent_p.G1901G|CACNA1C_uc001qkf.2_Silent_p.G1920G|CACNA1C_uc001qjz.2_Silent_p.G1912G|CACNA1C_uc001qkd.2_Silent_p.G1931G|CACNA1C_uc001qkg.2_Silent_p.G1918G|CACNA1C_uc009zdw.1_Silent_p.G1953G|CACNA1C_uc001qkh.2_Silent_p.G1920G|CACNA1C_uc001qkl.2_Silent_p.G1960G|CACNA1C_uc001qkn.2_Silent_p.G1912G|CACNA1C_uc001qko.2_Silent_p.G1932G|CACNA1C_uc001qkp.2_Silent_p.G1912G|CACNA1C_uc001qkr.2_Silent_p.G1929G|CACNA1C_uc001qku.2_Silent_p.G1947G|CACNA1C_uc001qkq.2_Silent_p.G1940G|CACNA1C_uc001qks.2_Silent_p.G1912G|CACNA1C_uc001qkt.2_Silent_p.G1931G|CACNA1C_uc001qki.1_Silent_p.G1719G|CACNA1C_uc001qkj.1_Silent_p.G1683G|CACNA1C_uc001qkk.1_Silent_p.G1648G|CACNA1C_uc001qkm.1_Silent_p.G1708G|CACNA1C_uc010sea.1_Silent_p.G603G|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.G230G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1995	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	ACCGAGGGGGAGACATCTCTC	0.572													G	2795387	A	G	2795387	2	3	272	1	0	0	0	0	0	0	0	1	2540	291	11	3		3	CACNA1C	12	2795387	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1046424	2795387	131056508	1259	136370											
TULP3	7289	broad.mit.edu	37	chr12	3043651	3043651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtttacagtttatgaccGtggcatctgccccatgaagg	10	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:3043651G>A	uc010seh.1	+	8	929	c.848G>A	c.(847-849)CGT>CAT	p.R283H	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_Missense_Mutation_p.R10H|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.R283H|TULP3_uc010sei.1_Missense_Mutation_p.R140H	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	283					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTTTATGACCGTGGCATCTGC	0.522													A	3043651	G	A	3043651	3	1	272	1	0	0	0	0	1	0	0	0	16772	1145	40	1	878	1	TULP3	12	3043651	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	248264	3043651	130808244	1260	136371											
RAD51AP1	10635	broad.mit.edu	37	chr12	4665605	4665605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcttcagataccactAggaaaccattagaaatacgc	6	11	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:4665605A>G	uc001qmw.2	+	9	1015	c.859A>G	c.(859-861)AGG>GGG	p.R287G	RAD51AP1_uc001qmu.2_Missense_Mutation_p.R270G|RAD51AP1_uc001qmv.2_Missense_Mutation_p.R233G|RAD51AP1_uc010sep.1_Missense_Mutation_p.R152G|RAD51AP1_uc010seq.1_Missense_Mutation_p.R152G|RAD51AP1_uc009zeg.2_Intron	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	287					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGATACCACTAGGAAACCATT	0.433													G	4665605	A	G	4665605	3	3	272	1	0	0	0	0	1	0	0	0	12986	411	15	3	893	3	RAD51AP1	12	4665605	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1621954	4665605	129186290	1261	136372											
KCNA5	3741	broad.mit.edu	37	chr12	5153903	5153903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctccctggacgtgttcgCggacgagatacgcttctacc	11	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:5153903C>T	uc001qni.2	+	1	819	c.590C>T	c.(589-591)GCG>GTG	p.A197V		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	197						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GACGTGTTCGCGGACGAGATA	0.632													T	5153903	C	T	5153903	3	4	272	1	0	0	0	0	1	0	0	0	8006	768	27	1	592	1	KCNA5	12	5153903	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	488298	5153903	128697992	1262	136373											
ANO2	57101	broad.mit.edu	37	chr12	5848546	5848546	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctgtagcctcttccaGttttccaggaacatggtagc	9	12	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:5848546G>C	uc001qnm.2	-	13	1431	c.1359C>G	c.(1357-1359)AAC>AAG	p.N453K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	458	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GCCTCTTCCAGTTTTCCAGGA	0.438													C	5848546	G	C	5848546	3	2	272	1	0	0	0	0	1	0	0	0	697	1020	36	5	1693	5	ANO2	12	5848546	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	694643	5848546	128003349	1263	136374											
C12orf53	196500	broad.mit.edu	37	chr12	6806777	6806777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgaggagatcggcttgGtggaggtgctcgctcccaca	15	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:6806777G>A	uc001qqf.1	-	3	275	c.199C>T	c.(199-201)CCA>TCA	p.P67S	C12orf53_uc001qqg.1_Missense_Mutation_p.P67S	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	67	Extracellular (Potential).					integral to membrane					0						GATCGGCTTGGTGGAGGTGCT	0.697													A	6806777	G	A	6806777	3	1	272	1	0	0	0	0	1	0	0	0	1698	1261	44	4	665	4	C12orf53	12	6806777	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	958231	6806777	127045118	1264	136375											
ATN1	1822	broad.mit.edu	37	chr12	7044973	7044973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctcgacagccagaggcTagctttgaaccccatccttc	7	17	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:7044973T>C	uc001qrw.1	+	5	780	c.543T>C	c.(541-543)GCT>GCC	p.A181A	ATN1_uc001qrx.1_Silent_p.A181A|ATN1_uc001qry.1_Silent_p.A180A	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	181					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						AGCCAGAGGCTAGCTTTGAAC	0.637													C	7044973	T	C	7044973	2	2	272	1	0	0	0	0	0	0	0	1	1111	1509	53	3		3	ATN1	12	7044973	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	238196	7044973	126806922	1265	136376											
C1S	716	broad.mit.edu	37	chr12	7177814	7177814	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgtacaggatcccaaTgacaagaccaaattctacgc	7	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:7177814T>C	uc001qsj.2	+	15	2645	c.1926T>C	c.(1924-1926)AAT>AAC	p.N642N	C1S_uc001qsk.2_Silent_p.N642N|C1S_uc001qsl.2_Silent_p.N642N|C1S_uc009zfr.2_Silent_p.N475N|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	642	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGGATCCCAATGACAAGACCA	0.522													C	7177814	T	C	7177814	2	2	272	1	0	0	0	0	0	0	0	1	1974	1461	51	3		3	C1S	12	7177814	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	132841	7177814	126674081	1266	136377											
C1R	715	broad.mit.edu	37	chr12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-													tgtagttgcagcgcaggtcaGgggggtaggaccgagggtac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:7242009_7242009AG>A	uc010sfy.2	-	4	707	c.648_648CT>T	c.(646-648)cctfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc021quh.1_Frame_Shift_Del_p.P105fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCGCAGGTCAGGGGGGTAGG	0.597													-	7242010	G	-	7242010	7	5	272	1	0	1	0	1	0	0	0	0	1972	1000	35	0	1177	0	C1R	12	7242010	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	64196	7242010	126609885	1267	136378											
FOXJ2	55810	broad.mit.edu	37	chr12	8200580	8200580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagcagcagcagcagcCgccacagccacctccccagc	10	20	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:8200580C>T	uc001qtu.2	+	7	2005	c.920C>T	c.(919-921)CCG>CTG	p.P307L	FOXJ2_uc001qtt.1_Missense_Mutation_p.P307L	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	307					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 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			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		cagcagcagcCGCCACAGCCA	0.473													T	8200580	C	T	8200580	3	4	272	1	0	0	0	0	1	0	0	0	6012	652	23	1	942	1	FOXJ2	12	8200580	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	958570	8200580	125651315	1268	136379											
CLEC2B	9976	broad.mit.edu	37	chr12	10010142	10010142	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttgtatttacttgaattCcaatctccttcttctttaga	4	9	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:10010142C>T	uc001qwn.2	-	3	825	c.168G>A	c.(166-168)TGG>TGA	p.W56*		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	56	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						TACTTGAATTCCAATCTCCTT	0.323													T	10010142	C	T	10010142	4	4	272	1	0	0	0	0	0	1	0	0	3507	856	30	4	293	4	CLEC2B	12	10010142	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1809562	10010142	123841753	1269	136380											
TAS2R7	50837	broad.mit.edu	37	chr12	10954878	10954878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcaggttgcaaaccAgatacttaaatgattggtta	11	6	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:10954878A>G	uc001qyv.2	-	1	349	c.292T>C	c.(292-294)TGG>CGG	p.W98R		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	98	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						GTTGCAAACCAGATACTTAAA	0.373													G	10954878	A	G	10954878	3	3	272	1	0	0	0	0	1	0	0	0	15583	188	7	3	668	3	TAS2R7	12	10954878	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	944736	10954878	122897017	1270	136381											
ETV6	2120	broad.mit.edu	37	chr12	12022502	12022502	+	Frame_Shift_Del	DEL	C	C	-													cgagcagcggcccctccggtCccccctggacaacatgatcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:12022501_12022501TC>T	uc001qzz.3	+	4	881	c.607_607TC>T	c.(607-609)tccfs	p.S203fs	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	203						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCCCCTCCGGTCCCCCCTGGA	0.637			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								-	12022502	C	-	12022502	7	5	272	1	0	1	0	1	0	0	0	0	5283	855	30	0	626	0	ETV6	12	12022502	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1067624	12022502	121829393	1271	136382											
GRIN2B	2904	broad.mit.edu	37	chr12	14018807	14018807	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgtgctgaaatgaaatcGaggatctgggcgatggcttc	14	7	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:14018807G>A	uc001rbt.2	-	2	515	c.336C>T	c.(334-336)CTC>CTT	p.L112L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	112	Extracellular (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAATGAAATCGAGGATCTGGG	0.542													A	14018807	G	A	14018807	2	1	272	1	0	0	0	0	0	0	0	1	6780	1045	37	1		1	GRIN2B	12	14018807	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1996305	14018807	119833088	1272	136383											
ITPR2	3709	broad.mit.edu	37	chr12	26752212	26752212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagtgttgtacaactctctCgctaatttcgttgcacagat	7	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:26752212C>T	uc001rhg.2	-	30	4285	c.3868G>A	c.(3868-3870)GAG>AAG	p.E1290K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1290	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ACAACTCTCTCGCTAATTTCG	0.433													T	26752212	C	T	26752212	3	4	272	1	0	0	0	0	1	0	0	0	7921	893	31	1	4349	1	ITPR2	12	26752212	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	12733405	26752212	107099683	1273	136384											
KIF21A	55605	broad.mit.edu	37	chr12	39734129	39734129	+	Frame_Shift_Del	DEL	T	T	-													ttttcatattcagacctaacTttttttgctttttcttctga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:39734129delT	uc001rly.2	-	16	2294	c.2148delA	c.(2146-2148)AAAfs	p.K716fs	KIF21A_uc001rlw.2_Frame_Shift_Del_p.K33fs|KIF21A_uc001rlx.2_Frame_Shift_Del_p.K703fs|KIF21A_uc001rlz.2_Frame_Shift_Del_p.K703fs|KIF21A_uc010skl.1_Frame_Shift_Del_p.K703fs	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	716					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CAGACCTAACTTTTTTTGCTT	0.343													-	39734129	T	-	39734129	7	5	272	1	0	1	0	1	0	0	0	0	8288	1606	56	0	2968	0	KIF21A	12	39734129	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	12981917	39734129	94117766	1274	136385											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854129	42854129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcttcaaaattgtagaCgcgtctccgagtcctttcac	6	14	4	1	rs143947284	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:42854129C>T	uc010skv.1	-	8	2265	c.1978G>A	c.(1978-1980)GTC>ATC	p.V660I	PRICKLE1_uc001rnl.2_Missense_Mutation_p.V660I|PRICKLE1_uc010skw.1_Missense_Mutation_p.V660I|PRICKLE1_uc001rnm.2_Missense_Mutation_p.V660I|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	660	Arg/His-rich.				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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AAATTGTAGACGCGTCTCCGA	0.507													T	42854129	C	T	42854129	3	4	272	1	0	0	0	0	1	0	0	0	12486	536	19	1	521	1	PRICKLE1	12	42854129	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3120000	42854129	90997766	1275	136386											
ARID2	196528	broad.mit.edu	37	chr12	46230679	46230679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaagctcttggcagctaatCgtacctgtcttcgtttccta	7	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:46230679C>T	uc001ros.1	+	8	928	c.928C>T	c.(928-930)CGT>TGT	p.R310C	ARID2_uc001ror.2_Missense_Mutation_p.R310C|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	310					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		GGCAGCTAATCGTACCTGTCT	0.403													T	46230679	C	T	46230679	3	4	272	1	0	0	0	0	1	0	0	0	915	884	31	1	958	1	ARID2	12	46230679	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3376550	46230679	87621216	1276	136387											
PFKM	5213	broad.mit.edu	37	chr12	48534550	48534550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacgtgggggctccggctGcaggcatgaatgctgctgtt	16	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:48534550G>A	uc001rrc.2	+	14	1407	c.1237G>A	c.(1237-1239)GCA>ACA	p.A413T	PFKM_uc001rra.1_Missense_Mutation_p.A98T|PFKM_uc001rrb.1_Missense_Mutation_p.A484T|PFKM_uc001rrd.2_Missense_Mutation_p.A98T|PFKM_uc001rre.1_Missense_Mutation_p.A413T|PFKM_uc001rrg.1_Missense_Mutation_p.A382T	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	413					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			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						GGCTCCGGCTGCAGGCATGAA	0.577													A	48534550	G	A	48534550	3	1	272	1	0	0	0	0	1	0	0	0	11765	1319	46	2	1508	2	PFKM	12	48534550	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2303871	48534550	85317345	1277	136388											
CCDC65	85478	broad.mit.edu	37	chr12	49312541	49312541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgagaaccggtatatccGtaatgacaaggaattggtcc	11	7	0	3	rs143876144	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:49312541G>A	uc001rso.2	+	6	1108	c.881G>A	c.(880-882)CGT>CAT	p.R294H		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	294										ovary(1)|skin(1)	2						CGGTATATCCGTAATGACAAG	0.463													A	49312541	G	A	49312541	3	1	272	1	0	0	0	0	1	0	0	0	2837	1145	40	1	903	1	CCDC65	12	49312541	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	777991	49312541	84539354	1278	136389											
MLL2	8085	broad.mit.edu	37	chr12	49441816	49441816	+	Frame_Shift_Del	DEL	C	C	-													ggcaaggaggtggccctctgCcccccggccaaagctgccac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:49441815_49441815GC>G	uc001rta.4	-	13	4169	c.4169_4169GC>C	c.(4168-4170)gcafs	p.A1390fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1390					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTGGCCCTCTGCCCCCCGGCC	0.567			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49441816	C	-	49441816	7	5	272	1	0	1	0	1	0	0	0	0	9621	739	26	0	12609	0	MLL2	12	49441816	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	129275	49441816	84410079	1279	136390											
PRPF40B	25766	broad.mit.edu	37	chr12	50025229	50025229	+	Frame_Shift_Del	DEL	C	C	-													cctttcctccgatggggctaCcccccatgagtcagagacca					rs139675241		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:50025228_50025228AC>A	uc001rur.1	+	1	126	c.63_63AC>A	c.(61-63)ctafs	p.L21fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.L43fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.L15fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	21	Pro-rich.				RNA splicing|mRNA processing	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						CGATGGGGCTACCCCCCATGA	0.607													-	50025229	C	-	50025229	7	5	272	1	0	1	0	1	0	0	0	0	12572	507	18	0	70	0	PRPF40B	12	50025229	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	583413	50025229	83826666	1280	136391											
AQP6	363	broad.mit.edu	37	chr12	50367197	50367197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggccagcggggcccacGccaaccccgccgtgacgctg	15	17	0	1	rs116856189		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:50367197G>A	uc001rvr.1	+	1	578	c.241G>A	c.(241-243)GCC>ACC	p.A81T	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	81	Cytoplasmic (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						CGGGGCCCACGCCAACCCCGC	0.672													A	50367197	G	A	50367197	3	1	272	1	0	0	0	0	1	0	0	0	830	1087	38	1	243	1	AQP6	12	50367197	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	341968	50367197	83484698	1281	136392											
GPD1	2819	broad.mit.edu	37	chr12	50501398	50501398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatggcctgggctttggcGacaacaccaaggcggcagtg	16	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:50501398G>A	uc001rvz.2	+	6	694	c.661G>A	c.(661-663)GAC>AAC	p.D221N	GPD1_uc001rwa.2_Missense_Mutation_p.D198N	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	221					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GGGCTTTGGCGACAACACCAA	0.582													A	50501398	G	A	50501398	3	1	272	1	0	0	0	0	1	0	0	0	6604	1058	37	1	683	1	GPD1	12	50501398	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	134201	50501398	83350497	1282	136393											
SLC11A2	4891	broad.mit.edu	37	chr12	51392999	51392999	+	Frame_Shift_Del	DEL	A	A	-													ataatagtgatgagaaagccAaaaaatgcttctagcttccg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:51392998_51392998CA>C	uc001rxk.2	-	7	771	c.721_721TG>G	c.(721-723)ggcfs	p.G241fs	SLC11A2_uc001rxd.4_Frame_Shift_Del_p.G61fs|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxc.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smx.2_Frame_Shift_Del_p.G208fs|SLC11A2_uc001rxh.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smy.2_Frame_Shift_Del_p.G175fs|SLC11A2_uc001rxj.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxi.3_Frame_Shift_Del_p.G212fs	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	212					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						ATGAGAAAGCCAAAAAATGCT	0.413													-	51392999	A	-	51392999	7	5	272	1	0	1	0	1	0	0	0	0	14381	127	5	0	1170	0	SLC11A2	12	51392999	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	891601	51392999	82458896	1283	136394											
DAZAP2	9802	broad.mit.edu	37	chr12	51636173	51636173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcatgcagggagccaaCgtcctcgtaactcagcggaa	12	12	2	0	rs149578797		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:51636173C>T	uc010snd.1	+	4	545	c.361C>T	c.(361-363)CGT>TGT	p.R121C	DAZAP2_uc001ryb.2_Silent_p.N124N|DAZAP2_uc010snc.1_Silent_p.N64N|DAZAP2_uc010sne.1_Silent_p.N114N|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							WW domain binding				0						AGGGAGCCAACGTCCTCGTAA	0.557													T	51636173	C	T	51636173	3	4	272	1	0	0	0	0	1	0	0	0	4245	536	19	1	452	1	DAZAP2	12	51636173	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	243174	51636173	82215722	1284	136395											
KRT1	3848	broad.mit.edu	37	chr12	53069361	53069361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgccgccacctcctcgGctgccacctccactgatggt	8	21	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53069361G>A	uc001sau.1	-	9	1610	c.1551C>T	c.(1549-1551)AGC>AGT	p.S517S	KRT1_uc001sav.1_Silent_p.S517S	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	517	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			ovary(1)|skin(1)	2						cacctcctcggctgccacctc	0.219													A	53069361	G	A	53069361	2	1	272	1	0	0	0	0	0	0	0	1	8447	1194	42	2		2	KRT1	12	53069361	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1433188	53069361	80782534	1285	136396											
KRT3	3850	broad.mit.edu	37	chr12	53188043	53188043	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttgtgcctgagatggAacttgtgccctgctgctgga	14	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53188043A>G	uc001say.2	-	2	784	c.718T>C	c.(718-720)TCC>CCC	p.S240P		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	240	Rod.|Linker 1.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						CCTGAGATGGAACTTGTGCCC	0.542													G	53188043	A	G	53188043	3	3	272	1	0	0	0	0	1	0	0	0	8466	246	9	3	1200	3	KRT3	12	53188043	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	118682	53188043	80663852	1286	136397											
ZNF740	283337	broad.mit.edu	37	chr12	53580194	53580194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagaagccatttgaatgCgatatatgtgatatgcgttt	12	4	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53580194C>T	uc001scb.3	+	6	787	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001004304	NP_001004304	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	131	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding				0						CATTTGAATGCGATATATGTG	0.483													T	53580194	C	T	53580194	2	4	272	1	0	0	0	0	0	0	0	1	18125	776	27	1		1	ZNF740	12	53580194	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	392151	53580194	80271701	1287	136398											
C12orf10	60314	broad.mit.edu	37	chr12	53700604	53700604	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggctggacagtggcgAatacagtgtgtgcccaagga	15	9	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53700604A>G	uc001scp.3	+	6	958	c.906A>G	c.(904-906)CGA>CGG	p.R302R	C12orf10_uc009zmx.2_Silent_p.R251R|C12orf10_uc001scq.3_Silent_p.R187R	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	MYG1 protein precursor	302										ovary(2)	2						GACAGTGGCGAATACAGTGTG	0.552													G	53700604	A	G	53700604	2	3	272	1	0	0	0	0	0	0	0	1	1674	233	9	3		3	C12orf10	12	53700604	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	120410	53700604	80151291	1288	136399											
HOXC5	3222	broad.mit.edu	37	chr12	54428192	54428192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaacttgtgtctcaaTgagagacagatcaagatctg	9	9	3	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:54428192T>C	uc001sew.2	+	2	660	c.585T>C	c.(583-585)AAT>AAC	p.N195N	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	195	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGTGTCTCAATGAGAGACAGA	0.502													C	54428192	T	C	54428192	2	2	272	1	0	0	0	0	0	0	0	1	7314	1461	51	3		3	HOXC5	12	54428192	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	727588	54428192	79423703	1289	136400											
HOXC4	3221	broad.mit.edu	37	chr12	54447822	54447822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccggaatattacggccGgaccagggaatcgggattcc	13	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:54447822G>A	uc001seu.2	+	3	796	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	HOXC4_uc001sex.2_Missense_Mutation_p.R39Q	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TATTACGGCCGGACCAGGGAA	0.527													A	54447822	G	A	54447822	3	1	272	1	0	0	0	0	1	0	0	0	7313	1116	39	1	118	1	HOXC4	12	54447822	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	19630	54447822	79404073	1290	136401											
SMUG1	23583	broad.mit.edu	37	chr12	54576169	54576169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcaggagtaaggttgCgcccgctgggagccaggaaa	16	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:54576169C>T	uc001sff.1	-	4	653	c.524G>A	c.(523-525)CGC>CAC	p.R175H	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.R175H|SMUG1_uc009znf.1_Missense_Mutation_p.R175H|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	175	DNA binding (By similarity).				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						AGTAAGGTTGCGCCCGCTGGG	0.592								BER_DNA_glycosylases					T	54576169	C	T	54576169	3	4	272	1	0	0	0	0	1	0	0	0	14818	768	27	1	292	1	SMUG1	12	54576169	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	128347	54576169	79275726	1291	136402											
KIAA0748	9840	broad.mit.edu	37	chr12	55356472	55356472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttatctgagctgggtctgTgctccactgtggatcttcta	10	11	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:55356472T>C	uc001sgn.3	-	9	1320	c.1210A>G	c.(1210-1212)ACA>GCA	p.T404A	KIAA0748_uc001sgl.3_Missense_Mutation_p.T266A|KIAA0748_uc001sgm.3_Missense_Mutation_p.T151A|KIAA0748_uc010spb.1_Missense_Mutation_p.T151A|KIAA0748_uc010spc.1_Missense_Mutation_p.T266A|KIAA0748_uc010spd.1_Missense_Mutation_p.T404A|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	404										ovary(1)|central_nervous_system(1)	2						GCTGGGTCTGTGCTCCACTGT	0.512													C	55356472	T	C	55356472	3	2	272	1	0	0	0	0	1	0	0	0	8190	1696	59	3	363	3	KIAA0748	12	55356472	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	780303	55356472	78495423	1292	136403											
OR6C2	341416	broad.mit.edu	37	chr12	55846325	55846325	+	Frame_Shift_Del	DEL	T	T	-													ttctctttggagcaacagaaTtttttctcttggcagccatg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:55846324_55846324AT>A	uc001sgz.1	+	0	327	c.327_327AT>A	c.(325-327)gaafs	p.E109fs		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	109					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						GAGCAACAGAATTTTTTCTCT	0.403													-	55846325	T	-	55846325	7	5	272	1	0	1	0	1	0	0	0	0	11191	1493	52	0	330	0	OR6C2	12	55846325	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	489853	55846325	78005570	1293	136404											
OBFC2B	79035	broad.mit.edu	37	chr12	56622933	56622933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccacacacctgcaggccCgcctggcccttccagcaacc	7	21	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56622933C>T	uc001ski.2	+	7	696	c.572C>T	c.(571-573)CCG>CTG	p.P191L	OBFC2B_uc001skk.2_Missense_Mutation_p.P216L|OBFC2B_uc001skj.2_Missense_Mutation_p.P207L	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	191	Pro-rich.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						CCTGCAGGCCCGCCTGGCCCT	0.607								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	56622933	C	T	56622933	3	4	272	1	0	0	0	0	1	0	0	0	10809	652	23	1	594	1	OBFC2B	12	56622933	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	776608	56622933	77228962	1294	136405											
SLC39A5	283375	broad.mit.edu	37	chr12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-													gcctcccttctcccctatccCtgctgctgctgcggctcctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56628996_56628998CCTG>C	uc010sqj.2	+	6	947_949	c.690_692CCTG>C	c.(688-693)tccctg>tcCg	p.L234del	SLC39A5_uc010sqi.2_In_Frame_Del_p.L125del|SLC39A5_uc010sqk.2_In_Frame_Del_p.L234del	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	234					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						CTCCCCTATCCCTGCTGCTGCTG	0.635													-	56628999	CTG	-	56628997	7	5	272	1	0	1	0	1	0	0	0	0	14621	680	24	0	705	0	SLC39A5	12	56628997	In_Frame_Del	DEL	CTG	TCGA-HU-A4GQ-01A-11D-A25D-08	6064	56628997	77222898	1295	136406											
STAT2	6773	broad.mit.edu	37	chr12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G													gcaagctccagggggccttgINSggggggttggagaagaactg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|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	DNA binding|calcium ion 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						CAGGGGGCCTTGGGGGGGTTGG	0.594													G	56742818	-	G	56742817	7	5	272	1	0	1	1	0	0	0	0	0	15264	1335	47	0	1120	0	STAT2	12	56742817	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	113820	56742817	77109078	1296	136407											
TIMELESS	8914	broad.mit.edu	37	chr12	56822112	56822112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcacgaaggaaagagcGgggctggcatctctcatcaa	13	10	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56822112G>A	uc001slf.2	-	13	1654	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	TIMELESS_uc001slg.2_Missense_Mutation_p.R495C	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	496					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				ovary(5)|breast(2)|pancreas(1)	8						AGGAAAGAGCGGGGCTGGCAT	0.512													A	56822112	G	A	56822112	3	1	272	1	0	0	0	0	1	0	0	0	15901	1116	39	1	2208	1	TIMELESS	12	56822112	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	79295	56822112	77029783	1297	136408											
GPR182	11318	broad.mit.edu	37	chr12	57389756	57389756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacaacccaagagccggCgccactgcctgctgctgtgc	12	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:57389756C>T	uc001smk.2	+	2	857	c.763C>T	c.(763-765)CGC>TGC	p.R255C	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	255	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CAAGAGCCGGCGCCACTGCCT	0.622													T	57389756	C	T	57389756	3	4	272	1	0	0	0	0	1	0	0	0	6677	768	27	1	765	1	GPR182	12	57389756	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	567644	57389756	76462139	1298	136409											
GLI1	2735	broad.mit.edu	37	chr12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-													gaaggagttcgtgtgccactGggggggctgctccagggagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	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)			CGTGTGCCACTGGGGGGGCTG	0.597													-	57860075	G	-	57860075	7	5	272	1	0	1	0	1	0	0	0	0	6437	1357	47	0	841	0	GLI1	12	57860075	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	470319	57860075	75991820	1299	136410											
AVPR1A	552	broad.mit.edu	37	chr12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-													tcttgaaggagatggccactAaaaaacatgtatatccaggg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:63541342_63541342TA>T	uc001sro.1	-	1	3028	c.1054_1054TA>A	c.(1054-1056)agtfs	p.S352fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	352					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)	AGATGGCCACTAAAAAACATG	0.398													-	63541343	A	-	63541343	7	5	272	1	0	1	0	1	0	0	0	0	1231	359	13	0	207	0	AVPR1A	12	63541343	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	5681268	63541343	70310552	1300	136411											
SRGAP1	57522	broad.mit.edu	37	chr12	64502736	64502736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataatctctatgagagggCgcttcacatccgcaaactcc	8	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:64502736C>T	uc010ssp.1	+	16	1894	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	SRGAP1_uc001srv.2_Missense_Mutation_p.A550V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	613	Rho-GAP.				axon guidance	cytosol		p.A613V(1)		ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATGAGAGGGCGCTTCACATC	0.443													T	64502736	C	T	64502736	3	4	272	1	0	0	0	0	1	0	0	0	15144	768	27	1	1900	1	SRGAP1	12	64502736	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	961393	64502736	69349159	1301	136412											
GRIP1	23426	broad.mit.edu	37	chr12	66935616	66935616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagcaattcctccttgcCgcagattagatactcttggc	8	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:66935616C>T	uc001stk.2	-	3	492	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	GRIP1_uc010sta.1_Missense_Mutation_p.R28Q|GRIP1_uc001stl.1_Missense_Mutation_p.R28Q|GRIP1_uc001stm.2_Missense_Mutation_p.R84Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	84	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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCTCCTTGCCGCAGATTAGA	0.463													T	66935616	C	T	66935616	3	4	272	1	0	0	0	0	1	0	0	0	6787	652	23	1	3067	1	GRIP1	12	66935616	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2432880	66935616	66916279	1302	136413											
IL26	55801	broad.mit.edu	37	chr12	68595796	68595796	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaggatttagaattcttAccctataaaatattcttttc	3	6	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:68595796A>G	uc001stx.1	-	4	464	c.429_splice	c.e4+1	p.R143_splice		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor						cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TAGAATTCTTACCCTATAAAA	0.269													G	68595796	A	G	68595796	5	3	272	1	0	0	0	0	0	0	1	0	7679	405	14	3	92	3	IL26	12	68595796	Splice_Site	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1660180	68595796	65256099	1303	136414											
BEST3	144453	broad.mit.edu	37	chr12	70049362	70049363	+	Frame_Shift_Ins	INS	-	-	G													tccaggtgggtgaggccctgINSggggggtttcttgagggcac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:70049361_70049362T>TG	uc001svg.3	-	9	1559_1560	c.1332_1333A>CA	c.(1330-1335)cccaggfs	p.P444fs	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Frame_Shift_Ins_p.P231fs|BEST3_uc010stm.2_Frame_Shift_Ins_p.P338fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	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)			GGTGAGGCCCTGGGGGGGTTTC	0.594													G	70049363	-	G	70049362	7	5	272	1	0	1	1	0	0	0	0	0	1406	1335	47	0	678	0	BEST3	12	70049362	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1453566	70049362	63802533	1304	136415											
PTPRB	5787	broad.mit.edu	37	chr12	70963466	70963466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcttacctgtccgcccaAccacatttatctgattcttc	5	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:70963466A>G	uc001swb.3	-	12	2999	c.2969T>C	c.(2968-2970)GTT>GCT	p.V990A	PTPRB_uc010sto.1_Missense_Mutation_p.V990A|PTPRB_uc010stp.1_Missense_Mutation_p.V900A|PTPRB_uc001swc.3_Missense_Mutation_p.V1208A|PTPRB_uc001swa.3_Missense_Mutation_p.V1120A|PTPRB_uc001swd.3_Missense_Mutation_p.V1207A|PTPRB_uc009zrr.1_Missense_Mutation_p.V1087A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	990	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			TGTCCGCCCAACCACATTTAT	0.517													G	70963466	A	G	70963466	3	3	272	1	0	0	0	0	1	0	0	0	12796	43	2	3	3108	3	PTPRB	12	70963466	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	914104	70963466	62888429	1305	136416											
THAP2	83591	broad.mit.edu	37	chr12	72068121	72068121	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaacaggacaaactcgacgActtaaaatggatgctgttcc	8	10	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:72068121A>G	uc001swq.2	+	2	716	c.210A>G	c.(208-210)CGA>CGG	p.R70R		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated	70	THAP-type.					nucleolus	DNA binding|metal ion binding			ovary(1)	1						AAACTCGACGACTTAAAATGG	0.373													G	72068121	A	G	72068121	2	3	272	1	0	0	0	0	0	0	0	1	15841	262	10	3		3	THAP2	12	72068121	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1104655	72068121	61783774	1306	136417											
KCNC2	3747	broad.mit.edu	37	chr12	75441991	75441991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgtcagtaggaaacaTgtttcccctcttctgttttt	7	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:75441991T>C	uc001sxg.1	-	4	2266	c.1722A>G	c.(1720-1722)ACA>ACG	p.T574T	KCNC2_uc009zry.2_Silent_p.T574T|KCNC2_uc001sxe.2_Silent_p.T574T|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	574	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						GTAGGAAACATGTTTCCCCTC	0.488													C	75441991	T	C	75441991	2	2	272	1	0	0	0	0	0	0	0	1	8015	1451	51	3		3	KCNC2	12	75441991	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3373870	75441991	58409904	1307	136418											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75807475	75807475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttcatatgcaactatgCgccagggtaagttacttaaa	7	7	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:75807475C>T	uc001sxr.1	+	3	586	c.578C>T	c.(577-579)GCG>GTG	p.A193V	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.A193V|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.A86V	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	193						integral to membrane				ovary(1)	1						TGCAACTATGCGCCAGGGTAA	0.289													T	75807475	C	T	75807475	3	4	272	1	0	0	0	0	1	0	0	0	6443	768	27	1	588	1	GLIPR1L2	12	75807475	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	365484	75807475	58044420	1308	136419											
NAV3	89795	broad.mit.edu	37	chr12	78516178	78516178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcctgctcatgagaaCgggtagtgtgagatctactc	12	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:78516178C>T	uc001syp.2	+	16	4381	c.4208C>T	c.(4207-4209)ACG>ATG	p.T1403M	NAV3_uc001syo.2_Missense_Mutation_p.T1403M|NAV3_uc010sub.1_Missense_Mutation_p.T903M|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTCATGAGAACGGGTAGTGTG	0.552										HNSCC(70;0.22)			T	78516178	C	T	78516178	3	4	272	1	0	0	0	0	1	0	0	0	10185	536	19	1	4270	1	NAV3	12	78516178	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2708703	78516178	55335717	1309	136420											
LIN7A	8825	broad.mit.edu	37	chr12	81242079	81242079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagccattaacagttatcGtttcatgcatatattgatac	6	8	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:81242079G>A	uc001szj.1	-	3	417	c.224C>T	c.(223-225)ACG>ATG	p.T75M	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	75	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						AACAGTTATCGTTTCATGCAT	0.323													A	81242079	G	A	81242079	3	1	272	1	0	0	0	0	1	0	0	0	8810	1145	40	1	489	1	LIN7A	12	81242079	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2725901	81242079	52609816	1310	136421											
PPFIA2	8499	broad.mit.edu	37	chr12	81833764	81833764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttacctcctgattagcaGcagctagttcttcttccagt	8	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:81833764G>A	uc001szo.1	-	7	793	c.632C>T	c.(631-633)GCT>GTT	p.A211V	PPFIA2_uc010sue.1_Missense_Mutation_p.A111V|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	137										ovary(3)|lung(2)|pancreas(1)	6						CTGATTAGCAGCAGCTAGTTC	0.413													A	81833764	G	A	81833764	3	1	272	1	0	0	0	0	1	0	0	0	12310	971	34	2	3245	2	PPFIA2	12	81833764	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	591685	81833764	52018131	1311	136422											
LUM	4060	broad.mit.edu	37	chr12	91502756	91502756	+	Frame_Shift_Del	DEL	T	T	-													agtaaatgcacttagactcaTttttggcaaatggtttgaat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:91502755_91502755AT>A	uc001tbm.3	-	1	391	c.2_2AT>T	c.(1-3)atgfs	p.M1fs		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	1					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						ACTTAGACTCATTTTTGGCAA	0.303													-	91502756	T	-	91502756	7	5	272	1	0	1	0	1	0	0	0	0	9085	1493	52	0	1023	0	LUM	12	91502756	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	9668992	91502756	42349139	1312	136423											
UBE2N	7334	broad.mit.edu	37	chr12	93804898	93804898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaattttggtcatgaaacGtactttaggggctgccattg	10	6	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:93804898G>A	uc001tcp.2	-	2	574	c.208C>T	c.(208-210)CGT>TGT	p.R70C		NM_003348	NP_003339	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	70					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell 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|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity				0						GTCATGAAACGTACTTTAGGG	0.388								Direct_reversal_of_damage|Rad6_pathway					A	93804898	G	A	93804898	3	1	272	1	0	0	0	0	1	0	0	0	16863	1145	40	1	262	1	UBE2N	12	93804898	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2302142	93804898	40046997	1313	136424											
TMCC3	57458	broad.mit.edu	37	chr12	94975589	94975589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccaaacgactggtttccGttactgtcggccgagcctga	11	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:94975589G>A	uc001tdj.2	-	2	922	c.804C>T	c.(802-804)AAC>AAT	p.N268N	TMCC3_uc001tdi.2_Silent_p.N237N	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	268						integral to membrane				ovary(1)|skin(1)	2						ACTGGTTTCCGTTACTGTCGG	0.592													A	94975589	G	A	94975589	2	1	272	1	0	0	0	0	0	0	0	1	15991	1136	40	1		1	TMCC3	12	94975589	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1170691	94975589	38876306	1314	136425											
C12orf63	374467	broad.mit.edu	37	chr12	97045387	97045387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgctcatcgtggtggcTattggactctgcttcagaac	10	10	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:97045387T>C	uc001tet.1	+	3	247	c.169T>C	c.(169-171)TAT>CAT	p.Y57H		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	57										skin(6)|ovary(1)	7						TCGTGGTGGCTATTGGACTCT	0.383													C	97045387	T	C	97045387	3	2	272	1	0	0	0	0	1	0	0	0	1706	1522	53	3	175	3	C12orf63	12	97045387	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2069798	97045387	36806508	1315	136426											
ANKS1B	56899	broad.mit.edu	37	chr12	99447056	99447056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactcagctacagaggtgGgatggtagccatcatgccca	12	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:99447056G>A	uc001tge.1	-	17	3074	c.2657C>T	c.(2656-2658)CCC>CTC	p.P886L	ANKS1B_uc001tgf.1_Missense_Mutation_p.P462L|ANKS1B_uc001tgk.2_Missense_Mutation_p.P183L|ANKS1B_uc001tgd.1_Missense_Mutation_p.P112L|ANKS1B_uc001tgi.2_Missense_Mutation_p.P112L|ANKS1B_uc009ztr.2_Missense_Mutation_p.P112L|ANKS1B_uc001tgj.2_Missense_Mutation_p.P112L|ANKS1B_uc001tgg.3_Missense_Mutation_p.P55L|ANKS1B_uc010svg.1_Missense_Mutation_p.P81L|ANKS1B_uc009zts.1_Missense_Mutation_p.P112L|ANKS1B_uc001tgm.1_Missense_Mutation_p.P112L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	886	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		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)		TACAGAGGTGGGATGGTAGCC	0.413													A	99447056	G	A	99447056	3	1	272	1	0	0	0	0	1	0	0	0	689	1232	43	4	1320	4	ANKS1B	12	99447056	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2401669	99447056	34404839	1316	136427											
ANO4	121601	broad.mit.edu	37	chr12	101504234	101504234	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttttcccctagcaccActtctggccttactgaataa	6	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:101504234A>T	uc010svm.1	+	23	2774	c.2202A>T	c.(2200-2202)CCA>CCT	p.P734P	ANO4_uc001thw.2_Silent_p.P699P|ANO4_uc001thx.2_Silent_p.P734P|ANO4_uc001thy.2_Silent_p.P254P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	734	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CCCTAGCACCACTTCTGGCCT	0.388										HNSCC(74;0.22)			T	101504234	A	T	101504234	2	4	272	1	0	0	0	0	0	0	0	1	699	146	6	5		5	ANO4	12	101504234	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2057178	101504234	32347661	1317	136428											
ASCL1	429	broad.mit.edu	37	chr12	103352210	103352210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagcagcagcagcaggCgccgcagctgagaccggcgg	17	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:103352210C>T	uc001tjr.3	+	1	759	c.188C>T	c.(187-189)GCG>GTG	p.A63V		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	63					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				0						cagcagcagGCGCCGCAGCTG	0.408													T	103352210	C	T	103352210	3	4	272	1	0	0	0	0	1	0	0	0	1034	768	27	1	190	1	ASCL1	12	103352210	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1847976	103352210	30499685	1318	136429											
STAB2	55576	broad.mit.edu	37	chr12	104034015	104034015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgcaaattgcaccaccGtcgcaccaggccgaactgag	11	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:104034015G>A	uc001tjw.2	+	9	1207	c.1021G>A	c.(1021-1023)GTC>ATC	p.V341I		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	341	Extracellular (Potential).|EGF-like 5.				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			ovary(9)|skin(5)	14						TTGCACCACCGTCGCACCAGG	0.403													A	104034015	G	A	104034015	3	1	272	1	0	0	0	0	1	0	0	0	15237	1145	40	1	1055	1	STAB2	12	104034015	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	681805	104034015	29817880	1319	136430											
TDG	6996	broad.mit.edu	37	chr12	104373688	104373689	+	Frame_Shift_Ins	INS	-	-	A													ccaaaaaacctgttgagtcaINSaaaaaatctggcaagtctgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:104373687_104373688C>CA	uc001tkg.3	+	2	468_469	c.245_246C>CA	c.(244-246)tcafs	p.S82fs	TDG_uc010swh.1_Frame_Shift_Ins_p.S82fs|TDG_uc009zuk.3_Frame_Shift_Ins_p.S78fs|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	82					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)		CCTGTTGAGTCAAAAAAATCTG	0.332								Base excision repair (BER), DNA glycosylases					A	104373689	-	A	104373688	7	5	272	1	0	1	1	0	0	0	0	0	15722	117	5	0	256	0	TDG	12	104373688	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	339673	104373688	29478207	1320	136431											
POLR3B	55703	broad.mit.edu	37	chr12	106773822	106773822	+	Frame_Shift_Del	DEL	A	A	-													ctcatagctctacccatgagAaaaaaagcagaaccaatatg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:106773822delA	uc001tlp.2	+	9	850	c.628delA	c.(628-630)AAAfs	p.K210fs	POLR3B_uc001tlq.2_Frame_Shift_Del_p.K152fs	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	210					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			ovary(1)|central_nervous_system(1)	2						TACCCATGAGAAAAAAAGCAG	0.333													-	106773822	A	-	106773822	7	5	272	1	0	1	0	1	0	0	0	0	12229	247	9	0	662	0	POLR3B	12	106773822	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2400134	106773822	27078073	1321	136432											
WSCD2	9671	broad.mit.edu	37	chr12	108626654	108626654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagctactacttcgatGgctccctctacaacaaaggt	8	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:108626654G>T	uc001tms.2	+	7	1870	c.1126G>T	c.(1126-1128)GGC>TGC	p.G376C	WSCD2_uc001tmt.2_Missense_Mutation_p.G376C|WSCD2_uc001tmu.2_Missense_Mutation_p.G124C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	376						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CTACTTCGATGGCTCCCTCTA	0.577													T	108626654	G	T	108626654	3	4	272	1	0	0	0	0	1	0	0	0	17404	1348	47	5	1148	5	WSCD2	12	108626654	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1852832	108626654	25225241	1322	136433											
SART3	9733	broad.mit.edu	37	chr12	108924005	108924005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttttcttcttttttaacGctttcttctcagcccgagct	4	12	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:108924005G>A	uc001tmz.1	-	15	2064	c.1829C>T	c.(1828-1830)GCG>GTG	p.A610V	SART3_uc001tmy.1_Missense_Mutation_p.A136V|SART3_uc009zux.1_Missense_Mutation_p.A222V|SART3_uc010swx.1_Missense_Mutation_p.A574V|SART3_uc010swy.1_Missense_Mutation_p.A496V|SART3_uc010swz.1_Missense_Mutation_p.A610V|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	610	Required for nuclear localization.|Potential.|Nuclear localization signal (Potential).				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CTTTTTTAACGCTTTCTTCTC	0.483									Porokeratosis				A	108924005	G	A	108924005	3	1	272	1	0	0	0	0	1	0	0	0	13847	1087	38	1	1082	1	SART3	12	108924005	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	297351	108924005	24927890	1323	136434											
ACACB	32	broad.mit.edu	37	chr12	109604775	109604776	+	Frame_Shift_Ins	INS	-	-	G													tgagtttgtcacacgctttgINSggggggatcgggtcatcgag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:109604774_109604775T>TG	uc001tob.3	+	2	881_882	c.762_763T>TG	c.(760-765)tttgggfs	p.F254fs	ACACB_uc001toc.3_Frame_Shift_Ins_p.F254fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	254					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	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|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)	TCACACGCTTTGGGGGGGATCG	0.614													G	109604776	-	G	109604775	7	5	272	1	0	1	1	0	0	0	0	0	107	1348	47	0	769	0	ACACB	12	109604775	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	680770	109604775	24247120	1324	136435											
ACACB	32	broad.mit.edu	37	chr12	109677751	109677751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accgactgcaaccacatcttCctcaacttcgtgcccactgt	5	17	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:109677751C>A	uc001tob.2	+	35	4898	c.4779C>A	c.(4777-4779)TTC>TTA	p.F1593L	ACACB_uc001toc.2_Missense_Mutation_p.F1593L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.F259L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1593					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACCACATCTTCCTCAACTTCG	0.612													A	109677751	C	A	109677751	3	1	272	1	0	0	0	0	1	0	0	0	107	854	30	5	4913	5	ACACB	12	109677751	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	72976	109677751	24174144	1325	136436											
C12orf34	84915	broad.mit.edu	37	chr12	110206330	110206330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttccaacctgccctccaTccacagcctcctgtaccagc	4	21	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:110206330T>C	uc001tpd.1	+	3	1155	c.596T>C	c.(595-597)ATC>ACC	p.I199T	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.I199T	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	199	Pro-rich.									ovary(1)	1						CTGCCCTCCATCCACAGCCTC	0.731													C	110206330	T	C	110206330	3	2	272	1	0	0	0	0	1	0	0	0	1681	1435	50	3	602	3	C12orf34	12	110206330	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	528579	110206330	23645565	1326	136437											
ANKRD13A	88455	broad.mit.edu	37	chr12	110450965	110450965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcactggcgatcctgagAtggtgtacacagttctccaa	11	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:110450965A>G	uc001tpx.2	+	3	524	c.265A>G	c.(265-267)ATG>GTG	p.M89V	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.M89V|ANKRD13A_uc010sxw.1_Missense_Mutation_p.M89V	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	89	ANK 2.										0						CGATCCTGAGATGGTGTACAC	0.433													G	110450965	A	G	110450965	3	3	272	1	0	0	0	0	1	0	0	0	641	333	12	3	275	3	ANKRD13A	12	110450965	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	244635	110450965	23400930	1327	136438											
ANAPC7	51434	broad.mit.edu	37	chr12	110812029	110812029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggtccccttcttcccCactcccttccatgtcgtcca	4	21	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:110812029C>A	uc001tqo.2	-	11	1721	c.1720G>T	c.(1720-1722)GGG>TGG	p.G574W		NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	574					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	protein phosphatase binding				0						CCTTCTTCCCCACTCCCTTCC	0.622													A	110812029	C	A	110812029	3	1	272	1	0	0	0	0	1	0	0	0	606	594	21	5	83	5	ANAPC7	12	110812029	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	361064	110812029	23039866	1328	136439											
HVCN1	84329	broad.mit.edu	37	chr12	111088012	111088012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtgttgaatcttggcGgccaattgtacattcatctg	10	8	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:111088012G>A	uc001trs.1	-	7	882	c.717C>T	c.(715-717)GCC>GCT	p.A239A	HVCN1_uc001trq.1_Silent_p.A239A|HVCN1_uc001trt.1_Silent_p.A239A|HVCN1_uc010syd.1_Silent_p.A219A	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	239	Cytoplasmic (Potential).|Potential.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						GAATCTTGGCGGCCAATTGTA	0.348													A	111088012	G	A	111088012	2	1	272	1	0	0	0	0	0	0	0	1	7462	1103	39	1		1	HVCN1	12	111088012	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	275983	111088012	22763883	1329	136440											
MYL2	4633	broad.mit.edu	37	chr12	111356949	111356949	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgttcgaacatggagaAcacgttggagttggcgcccc	14	10	1	1	rs104894370		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:111356949A>C	uc001try.3	-	2	123	c.52T>G	c.(52-54)TTC>GTC	p.F18V	MYL2_uc001trx.3_5'UTR	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	18					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						AACATGGAGAACACGTTGGAG	0.507													C	111356949	A	C	111356949	3	2	272	1	0	0	0	0	1	0	0	0	10047	43	2	5	472	5	MYL2	12	111356949	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	268937	111356949	22494946	1330	136441											
ALDH2	217	broad.mit.edu	37	chr12	112229927	112229928	+	Frame_Shift_Ins	INS	-	-	G													agagagtgaccttggagctgINSggggggaagagccccaacat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112229926_112229927T>TG	uc001tst.3	+	7	953_954	c.857_858T>TG	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Ins_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma								G	112229928	-	G	112229927	7	5	272	1	0	1	1	0	0	0	0	0	496	1335	47	0	888	0	ALDH2	12	112229927	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	872978	112229927	21621968	1331	136442											
C12orf51	283450	broad.mit.edu	37	chr12	112608179	112608179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtgatctcaggggccgCgtggtccgctgtcctctgca	14	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112608179C>T	uc009zwc.2	-	62	10762	c.10744G>A	c.(10744-10746)GCG>ACG	p.A3582T		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TCAGGGGCCGCGTGGTCCGCT	0.552													T	112608179	C	T	112608179	3	4	272	1	0	0	0	0	1	0	0	0	1696	768	27	1	1278	1	C12orf51	12	112608179	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	378252	112608179	21243716	1332	136443											
C12orf51	283450	broad.mit.edu	37	chr12	112622719	112622719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcggtggaaccacagcaTgtcctcgggcttgctgcctc	13	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112622719T>C	uc009zwc.2	-	54	8803	c.8785A>G	c.(8785-8787)ATG>GTG	p.M2929V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AACCACAGCATGTCCTCGGGC	0.667													C	112622719	T	C	112622719	3	2	272	1	0	0	0	0	1	0	0	0	1696	1464	51	3	3269	3	C12orf51	12	112622719	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	14540	112622719	21229176	1333	136444											
C12orf51	283450	broad.mit.edu	37	chr12	112630521	112630521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcgcttcactttgtggccGaggccatatacgagcacccg	10	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112630521G>A	uc009zwc.2	-	52	7887	c.7869C>T	c.(7867-7869)CTC>CTT	p.L2623L		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTTTGTGGCCGAGGCCATATA	0.612													A	112630521	G	A	112630521	2	1	272	1	0	0	0	0	0	0	0	1	1696	1045	37	1		1	C12orf51	12	112630521	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7802	112630521	21221374	1334	136445											
DTX1	1840	broad.mit.edu	37	chr12	113532597	113532597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgccacctgcaggacTgcaccatctgcatggagcga	11	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:113532597T>C	uc001tuk.1	+	6	1567	c.1231T>C	c.(1231-1233)TGC>CGC	p.C411R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	411	RING-type.				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			lung(2)|ovary(1)|central_nervous_system(1)	4						CCTGCAGGACTGCACCATCTG	0.672													C	113532597	T	C	113532597	3	2	272	1	0	0	0	0	1	0	0	0	4793	1580	55	3	1253	3	DTX1	12	113532597	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	902076	113532597	20319298	1335	136446											
DTX1	1840	broad.mit.edu	37	chr12	113534523	113534523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgtccccccaggtgCtgcggctgctcatcacggcc	11	18	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:113534523C>T	uc001tuk.1	+	9	1978	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	548					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			lung(2)|ovary(1)|central_nervous_system(1)	4						CCCCCAGGTGCTGCGGCTGCT	0.647													T	113534523	C	T	113534523	2	4	272	1	0	0	0	0	0	0	0	1	4793	796	28	2		2	DTX1	12	113534523	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1926	113534523	20317372	1336	136447											
DDX54	79039	broad.mit.edu	37	chr12	113600761	113600761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgctgccggcccctcGtcaggttctgggcttcatcc	12	15	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:113600761G>A	uc001tup.2	-	17	2199	c.2171C>T	c.(2170-2172)ACG>ATG	p.T724M	DDX54_uc001tuq.3_Missense_Mutation_p.T724M	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	724					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			skin(2)|central_nervous_system(1)	3						CCGGCCCCTCGTCAGGTTCTG	0.652													A	113600761	G	A	113600761	3	1	272	1	0	0	0	0	1	0	0	0	4372	1145	40	1	493	1	DDX54	12	113600761	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	66238	113600761	20251134	1337	136448											
FBXW8	26259	broad.mit.edu	37	chr12	117387508	117387508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgatggtgtggtcattgCggggtaagccaaaccgtttc	13	9	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:117387508C>T	uc001twg.1	+	4	756	c.674C>T	c.(673-675)GCG>GTG	p.A225V	FBXW8_uc001twf.1_Missense_Mutation_p.A159V|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	225	WD 1.						protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGGTCATTGCGGGGTAAGCC	0.498													T	117387508	C	T	117387508	3	4	272	1	0	0	0	0	1	0	0	0	5770	768	27	1	688	1	FBXW8	12	117387508	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3786747	117387508	16464387	1338	136449											
TAOK3	51347	broad.mit.edu	37	chr12	118619376	118619376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacatctgttcccgcaactCgttctcctgctcatgctcat	6	15	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:118619376C>T	uc001twx.2	-	15	1661	c.1366G>A	c.(1366-1368)GAG>AAG	p.E456K	TAOK3_uc001twv.2_5'UTR|TAOK3_uc001tww.2_Missense_Mutation_p.E286K|TAOK3_uc001twy.3_Missense_Mutation_p.E456K	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	456	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCCGCAACTCGTTCTCCTGC	0.517											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118619376	C	T	118619376	3	4	272	1	0	0	0	0	1	0	0	0	15546	893	31	1	1358	1	TAOK3	12	118619376	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1231868	118619376	15232519	1339	136450											
PRKAB1	5564	broad.mit.edu	37	chr12	120110201	120110201	+	Frame_Shift_Del	DEL	G	G	-													ccaacggtgtttcgatggacGgggggcggaaaggaagttta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:120110200_120110200CG>C	uc009zwu.3	+	2	357	c.254_254CG>C	c.(253-255)acgfs	p.T85fs	PRKAB1_uc001txg.3_Frame_Shift_Del_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	85					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)	TTTCGATGGACGGGGGGCGGA	0.517													-	120110201	G	-	120110201	7	5	272	1	0	1	0	1	0	0	0	0	12495	1103	39	0	261	0	PRKAB1	12	120110201	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1490825	120110201	13741694	1340	136451											
CIT	11113	broad.mit.edu	37	chr12	120220362	120220362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccggctctgctctctgAtatcatggagaagctgcagt	11	11	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:120220362A>G	uc001txi.1	-	13	1678	c.1625T>C	c.(1624-1626)ATC>ACC	p.I542T	CIT_uc001txh.1_Missense_Mutation_p.I76T|CIT_uc001txj.1_Missense_Mutation_p.I542T	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	542	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCTCTCTGATATCATGGAG	0.502													G	120220362	A	G	120220362	3	3	272	1	0	0	0	0	1	0	0	0	3438	333	12	3	4598	3	CIT	12	120220362	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	110161	120220362	13631533	1341	136452											
RNF10	9921	broad.mit.edu	37	chr12	120995154	120995154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgcagccaagataaccCgttgtggacacatcttctgc	8	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:120995154C>T	uc001typ.3	+	5	1198	c.715C>T	c.(715-717)CGT>TGT	p.R239C	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R145C	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	239	RING-type.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGATAACCCGTTGTGGACA	0.473													T	120995154	C	T	120995154	3	4	272	1	0	0	0	0	1	0	0	0	13422	652	23	1	733	1	RNF10	12	120995154	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	774792	120995154	12856741	1342	136453											
ACADS	35	broad.mit.edu	37	chr12	121175240	121175240	+	Frame_Shift_Del	DEL	A	A	-													cgcctttcaccagtggtgacAaaattggctgctttgccctc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:121175239_121175239CA>C	uc001tza.4	+	3	559	c.441_441CA>C	c.(439-441)gacfs	p.D147fs	ACADS_uc010szl.1_Frame_Shift_Del_p.D147fs	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	147						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAGTGGTGACAAAATTGGCT	0.602													-	121175240	A	-	121175240	7	5	272	1	0	1	0	1	0	0	0	0	114	131	5	0	456	0	ACADS	12	121175240	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	180086	121175240	12676655	1343	136454											
RSRC2	65117	broad.mit.edu	37	chr12	123001835	123001835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcttgatcttgagcGggaacgagacctgatccgcc	12	12	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:123001835G>A	uc001ucr.2	-	5	687	c.541C>T	c.(541-543)CGC>TGC	p.R181C	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R122C|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R133C|RSRC2_uc001ucu.2_Missense_Mutation_p.R181C	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	181	Ser-rich.									ovary(1)	1	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)		GATCTTGAGCGGGAACGAGAC	0.493													A	123001835	G	A	123001835	3	1	272	1	0	0	0	0	1	0	0	0	13715	1116	39	1	787	1	RSRC2	12	123001835	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1826595	123001835	10850060	1344	136455											
PITPNM2	57605	broad.mit.edu	37	chr12	123472373	123472373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtccaggggcccatacaTgaacctgcccgtcagaacct	9	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:123472373T>C	uc001uej.1	-	20	3212	c.3073A>G	c.(3073-3075)ATG>GTG	p.M1025V	PITPNM2_uc001uek.1_Missense_Mutation_p.M1019V	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1025					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		GGCCCATACATGAACCTGCCC	0.622													C	123472373	T	C	123472373	3	2	272	1	0	0	0	0	1	0	0	0	11951	1464	51	3	1000	3	PITPNM2	12	123472373	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	470538	123472373	10379522	1345	136456											
SETD8	387893	broad.mit.edu	37	chr12	123875317	123875317	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggaaaccattagccggaatCtacaggaaacgagaaggtaa	12	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:123875317C>T	uc001uew.2	+	3	315	c.273C>T	c.(271-273)ATC>ATT	p.I91I	SETD8_uc001uex.2_Silent_p.I26I	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	132					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TAGCCGGAATCTACAGGAAAC	0.488													T	123875317	C	T	123875317	2	4	272	1	0	0	0	0	0	0	0	1	14137	903	32	4		4	SETD8	12	123875317	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	402944	123875317	9976578	1346	136457											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124228805	124228805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgatgtttggagacttcgGacatggctttgtgatgtttt	13	4	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:124228805G>A	uc001ufr.2	+	11	1495	c.1247G>A	c.(1246-1248)GGA>GAA	p.G416E		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	416	Helical; (Potential).				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			ovary(2)	2	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)		GGAGACTTCGGACATGGCTTT	0.373													A	124228805	G	A	124228805	3	1	272	1	0	0	0	0	1	0	0	0	1169	1174	41	4	1289	4	ATP6V0A2	12	124228805	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	353488	124228805	9623090	1347	136458											
CCDC92	80212	broad.mit.edu	37	chr12	124421929	124421929	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttcctgctctctgccccGaatctgtagacctcttcaaa	6	14	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:124421929G>A	uc001ufw.1	-	5	819	c.672C>T	c.(670-672)TTC>TTT	p.F224F	CCDC92_uc001ufv.1_Silent_p.F207F|CCDC92_uc001ufx.1_Silent_p.F224F|CCDC92_uc001ufy.1_Silent_p.F207F	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	224											0	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)		TCTCTGCCCCGAATCTGTAGA	0.602													A	124421929	G	A	124421929	2	1	272	1	0	0	0	0	0	0	0	1	2871	1049	37	1		1	CCDC92	12	124421929	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	193124	124421929	9429966	1348	136459											
NCOR2	9612	broad.mit.edu	37	chr12	124826557	124826557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagccgcggatgaggtagGgtgggtacaggtgcgggtag	22	5	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:124826557G>A	uc010tba.1	-	34	5141	c.5024C>T	c.(5023-5025)CCC>CTC	p.P1675L	NCOR2_uc010tay.1_Missense_Mutation_p.P1674L|NCOR2_uc010taz.1_Missense_Mutation_p.P1658L|NCOR2_uc010tbb.1_Missense_Mutation_p.P1667L|NCOR2_uc010tbc.1_Missense_Mutation_p.P1657L|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1675					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			skin(3)|ovary(1)	4	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)		GATGAGGTAGGGTGGGTACAG	0.662													A	124826557	G	A	124826557	3	1	272	1	0	0	0	0	1	0	0	0	10236	1232	43	4	2600	4	NCOR2	12	124826557	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	404628	124826557	9025338	1349	136460											
UBC	7316	broad.mit.edu	37	chr12	125397325	125397325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgtcttggatctttgcCttgacattctcaatggtgtc	8	10	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125397325C>T	uc001ugs.3	-	2	1441	c.993G>A	c.(991-993)AAG>AAA	p.K331K	UBC_uc001ugr.2_RNA|UBC_uc001ugu.1_Silent_p.K331K|UBC_uc001ugt.2_Silent_p.K331K|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.K179K	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	331	Ubiquitin-like 5.				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			ovary(2)	2	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)		GGATCTTTGCCTTGACATTCT	0.517													T	125397325	C	T	125397325	2	4	272	1	0	0	0	0	0	0	0	1	16839	680	24	4		4	UBC	12	125397325	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	570768	125397325	8454570	1350	136461											
UBC	7316	broad.mit.edu	37	chr12	125397350	125397350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctcaatggtgtcactcGgctccacttcgagagtgatg	10	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125397350G>A	uc001ugs.3	-	2	1416	c.968C>T	c.(967-969)CCG>CTG	p.P323L	UBC_uc001ugr.2_RNA|UBC_uc001ugu.1_Missense_Mutation_p.P323L|UBC_uc001ugt.2_Missense_Mutation_p.P323L|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.P171L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	323	Ubiquitin-like 5.				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			ovary(2)	2	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)		GGTGTCACTCGGCTCCACTTC	0.522													A	125397350	G	A	125397350	3	1	272	1	0	0	0	0	1	0	0	0	16839	1116	39	1	1093	1	UBC	12	125397350	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	25	125397350	8454545	1351	136462											
UBC	7316	broad.mit.edu	37	chr12	125397535	125397535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaggaggaatgccttcCttgtcttggatctttgcttt	11	8	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125397535C>A	uc001ugs.3	-	2	1231	c.783G>T	c.(781-783)AAG>AAT	p.K261N	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.K261N|UBC_uc001ugt.2_Missense_Mutation_p.K261N|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.K109N	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	261	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			ovary(2)	2	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)		GAATGCCTTCCTTGTCTTGGA	0.517													A	125397535	C	A	125397535	3	1	272	1	0	0	0	0	1	0	0	0	16839	680	24	5	1278	5	UBC	12	125397535	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	185	125397535	8454360	1352	136463											
DHX37	57647	broad.mit.edu	37	chr12	125434766	125434766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaatccacctcgatggCggggagcggccagcccacgc	14	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125434766C>T	uc001ugy.2	-	24	3244	c.3145G>A	c.(3145-3147)GCC>ACC	p.A1049T	DHX37_uc001ugz.1_Missense_Mutation_p.A136T	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1049							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	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)		ACCTCGATGGCGGGGAGCGGC	0.652													T	125434766	C	T	125434766	3	4	272	1	0	0	0	0	1	0	0	0	4510	768	27	1	344	1	DHX37	12	125434766	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	37231	125434766	8417129	1353	136464											
TMEM132B	114795	broad.mit.edu	37	chr12	126135480	126135480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctggctggtcgggagcCgggaataaccacggtgcagg	17	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:126135480C>T	uc001uhe.1	+	7	1888	c.1880C>T	c.(1879-1881)CCG>CTG	p.P627L	TMEM132B_uc001uhf.1_Missense_Mutation_p.P139L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	627	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	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)		GGTCGGGAGCCGGGAATAACC	0.567													T	126135480	C	T	126135480	3	4	272	1	0	0	0	0	1	0	0	0	16043	652	23	1	1906	1	TMEM132B	12	126135480	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	700714	126135480	7716415	1354	136465											
TMEM132D	121256	broad.mit.edu	37	chr12	129558566	129558566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcgtctgaggagacggCggtgaaggtggtaaatttta	15	6	1	3	rs143281224	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:129558566C>T	uc009zyl.1	-	9	3482	c.3154G>A	c.(3154-3156)GCC>ACC	p.A1052T	TMEM132D_uc001uia.2_Missense_Mutation_p.A590T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1052	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		GAGGAGACGGCGGTGAAGGTG	0.517													T	129558566	C	T	129558566	3	4	272	1	0	0	0	0	1	0	0	0	16044	768	27	1	149	1	TMEM132D	12	129558566	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3423086	129558566	4293329	1355	136466											
RIMBP2	23504	broad.mit.edu	37	chr12	130926863	130926863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgttgtagctgctcaccGttccccatcctggtggcacc	11	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:130926863G>A	uc001uil.2	-	8	1147	c.983C>T	c.(982-984)ACG>ATG	p.T328M	RIMBP2_uc001uim.2_Missense_Mutation_p.T236M|RIMBP2_uc001uin.1_Translation_Start_Site	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	328	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		GCTGCTCACCGTTCCCCATCC	0.562													A	130926863	G	A	130926863	3	1	272	1	0	0	0	0	1	0	0	0	13363	1145	40	1	2223	1	RIMBP2	12	130926863	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1368297	130926863	2925032	1356	136467											
RIMBP2	23504	broad.mit.edu	37	chr12	130926883	130926883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccccatcctggtggcacCgccgggggctcccagcccac	12	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:130926883C>T	uc001uil.2	-	8	1127	c.963G>A	c.(961-963)GCG>GCA	p.A321A	RIMBP2_uc001uim.2_Silent_p.A229A|RIMBP2_uc001uin.1_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	321	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	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)		CTGGTGGCACCGCCGGGGGCT	0.557													T	130926883	C	T	130926883	2	4	272	1	0	0	0	0	0	0	0	1	13363	639	23	1		1	RIMBP2	12	130926883	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	20	130926883	2925012	1357	136468											
STX2	2054	broad.mit.edu	37	chr12	131283100	131283100	+	Frame_Shift_Del	DEL	T	T	-													ttgctctgatatttgatagcTttttttgtttcttctttagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:131283099_131283099CT>C	uc001uio.3	-	8	924	c.757_757AG>G	c.(757-759)gctfs	p.A253fs	STX2_uc001uip.3_Frame_Shift_Del_p.A253fs|STX2_uc010tbj.2_Frame_Shift_Del_p.A253fs	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	253	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	SNAP receptor activity|calcium-dependent protein binding			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)		TATTTGATAGCTTTTTTTGTT	0.338													-	131283100	T	-	131283100	7	5	272	1	0	1	0	1	0	0	0	0	15344	1606	56	0	200	0	STX2	12	131283100	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	356217	131283100	2568795	1358	136469											
EP400	57634	broad.mit.edu	37	chr12	132446440	132446442	+	In_Frame_Del	DEL	GAA	GAA	-													ggcagaatgatttggacattGaagaagaggaggaggaggag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:132446439_132446441TGAA>T	uc001ujn.3	+	1	1427_1429	c.1275_1277TGAA>T	c.(1273-1278)attgaa>atTa	p.E437del	EP400_uc021rgq.1_In_Frame_Del_p.E437del|EP400_uc001ujm.3_In_Frame_Del_p.E437del|EP400_uc001ujj.2_In_Frame_Del_p.E437del|EP400_uc001ujk.3_In_Frame_Del_p.E437del	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	437	Poly-Glu.				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)		ATTTGGACATTgaagaagaggag	0.379													-	132446442	GAA	-	132446440	7	5	272	1	0	1	0	1	0	0	0	0	5149	1291	45	0	1278	0	EP400	12	132446440	In_Frame_Del	DEL	GAA	TCGA-HU-A4GQ-01A-11D-A25D-08	1163340	132446440	1405455	1359	136470											
POLE	5426	broad.mit.edu	37	chr12	133218372	133218372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtcggccccctccatgtCgttgacatggtgagactgga	13	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:133218372C>T	uc001uks.1	-	39	5283	c.5239G>A	c.(5239-5241)GAC>AAC	p.D1747N	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.D551N|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1747					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		CCCTCCATGTCGTTGACATGG	0.612								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	133218372	C	T	133218372	3	4	272	1	0	0	0	0	1	0	0	0	12196	884	31	1	1665	1	POLE	12	133218372	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	771932	133218372	633523	1360	136471											
ZMYM5	9205	broad.mit.edu	37	chr13	20411844	20411844	+	Frame_Shift_Del	DEL	T	T	-													cttgacttattaaaaactccTtttttaagattccagttgtt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:20411844delT	uc010tcn.1	-	6	1255	c.990delA	c.(988-990)AAAfs	p.K330fs	ZMYM5_uc001umm.1_Frame_Shift_Del_p.K154fs|ZMYM5_uc001umn.2_Frame_Shift_Del_p.K330fs|ZMYM5_uc001umo.2_3'UTR	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	330	MYM-type 2.					nucleus	zinc ion binding				0		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)		TAAAAACTCCTTTTTTAAGAT	0.313													-	20411844	T	-	20411844	7	5	272	1	0	1	0	1	0	0	0	0	17700	1606	56	0	1142	0	ZMYM5	13	20411844	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08		20411844	94758034	1361	136472											
XPO4	64328	broad.mit.edu	37	chr13	21383964	21383964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctggagcagctaggtggCactgaatataggaattgaaa	12	6	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:21383964C>T	uc001unq.3	-	10	1352	c.1316G>A	c.(1315-1317)TGC>TAC	p.C439Y		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	439					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		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)		AGCTAGGTGGCACTGAATATA	0.363													T	21383964	C	T	21383964	3	4	272	1	0	0	0	0	1	0	0	0	17443	710	25	2	2195	2	XPO4	13	21383964	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	972120	21383964	93785914	1362	136473											
EFHA1	221154	broad.mit.edu	37	chr13	22069321	22069322	+	Frame_Shift_Ins	INS	-	-	T													ataaacctcgatgcattctgINSttttttaacaccccaagaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:22069321_22069322insT	uc001uof.2	-	11	1200_1201	c.1178_1179insA	c.(1177-1179)AACfs	p.N393fs	EFHA1_uc010tct.1_Frame_Shift_Ins_p.N183fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	393	EF-hand 4.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		GATGCATTCTGTTTTTTAACAC	0.317													T	22069322	-	T	22069321	7	5	272	1	0	1	1	0	0	0	0	0	4943	1368	48	0	133	0	EFHA1	13	22069321	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	685357	22069321	93100557	1363	136474	707	2									
EFHA1	221154	broad.mit.edu	37	chr13	22069322	22069323	+	Frame_Shift_Ins	INS	-	-	T													taaacctcgatgcattctgtINStttttaacaccccaagaaac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:22069321_22069322G>GT	uc001uof.3	-	10	1246_1247	c.1178_1179C>AC	c.(1177-1179)aacfs	p.N393fs	EFHA1_uc010tct.2_Frame_Shift_Ins_p.N183fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	393	EF-hand 4.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		GATGCATTCTGTTTTTTAACAC	0.317													T	22069323	-	T	22069322	7	5	272	1	0	1	1	0	0	0	0	0	4943	1725	60	0	134	0	EFHA1	13	22069322	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	22069322	93100556	1364	136475	707	2									
SACS	26278	broad.mit.edu	37	chr13	23909044	23909044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacaacaggtaaaagacGtttcatgtcttcgtgaatgc	9	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:23909044G>A	uc001uon.2	-	10	9560	c.8971C>T	c.(8971-8973)CGT>TGT	p.R2991C	SACS_uc001uoo.2_Missense_Mutation_p.R2844C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2991					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GGTAAAAGACGTTTCATGTCT	0.368													A	23909044	G	A	23909044	3	1	272	1	0	0	0	0	1	0	0	0	13804	1145	40	1	4772	1	SACS	13	23909044	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1839722	23909044	91260834	1365	136476											
SPATA13	221178	broad.mit.edu	37	chr13	24865020	24865020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtataccacacaggaacaCgggtgaggggcatgggtaag	15	7	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:24865020C>T	uc001upg.1	+	8	1610	c.1203C>T	c.(1201-1203)CAC>CAT	p.H401H	SPATA13_uc001upd.1_Silent_p.H1026H|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.H347H|SPATA13_uc010tcz.1_Silent_p.H285H|SPATA13_uc010tda.1_Silent_p.H345H|SPATA13_uc001uph.2_Silent_p.H323H|SPATA13_uc010tdb.1_Silent_p.H261H|SPATA13_uc009zzz.1_Silent_p.H126H	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	401	DH.				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			skin(2)|ovary(1)	3		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)		CACAGGAACACGGGTGAGGGG	0.572													T	24865020	C	T	24865020	2	4	272	1	0	0	0	0	0	0	0	1	14999	535	19	1		1	SPATA13	13	24865020	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	955976	24865020	90304858	1366	136477											
RNF17	56163	broad.mit.edu	37	chr13	25425689	25425689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttgattaaaaagggTttggctttgagagaaaggag	12	1	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:25425689T>C	uc001upr.2	+	24	3341	c.3300T>C	c.(3298-3300)GGT>GGC	p.G1100G	RNF17_uc010tdd.1_Silent_p.G959G|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.G1096G|RNF17_uc001ups.2_Silent_p.G1039G|RNF17_uc010aac.2_Silent_p.G298G|RNF17_uc010aad.2_Silent_p.G152G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1100					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		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)		TTAAAAAGGGTTTGGCTTTGA	0.358													C	25425689	T	C	25425689	2	2	272	1	0	0	0	0	0	0	0	1	13461	1712	60	3		3	RNF17	13	25425689	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	560669	25425689	89744189	1367	136478											
SHISA2	387914	broad.mit.edu	37	chr13	26621039	26621039	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtgctggcactggggAtcatggggatggtctccatc	18	8	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:26621039A>T	uc001uqm.1	-	2	585	c.500T>A	c.(499-501)ATC>AAC	p.I167N		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	167	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						GGCACTGGGGATCATGGGGAT	0.672													T	26621039	A	T	26621039	3	4	272	1	0	0	0	0	1	0	0	0	14280	333	12	5	391	5	SHISA2	13	26621039	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1195350	26621039	88548839	1368	136479											
MTIF3	219402	broad.mit.edu	37	chr13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttcctttgaaccagtcGcaggtctcgctcatccataa	9	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:28014243G>A	uc001urh.2	-	1	1567	c.343C>T	c.(343-345)CGA>TGA	p.R115*	MTIF3_uc001uri.2_Nonsense_Mutation_p.R115*|MTIF3_uc001urj.2_Nonsense_Mutation_p.R115*|MTIF3_uc001urk.2_Nonsense_Mutation_p.R115*	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			ovary(1)|skin(1)	2		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478													A	28014243	G	A	28014243	4	1	272	1	0	0	0	0	0	1	0	0	9935	1095	38	1	505	1	MTIF3	13	28014243	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1393204	28014243	87155635	1369	136480											
LNX2	222484	broad.mit.edu	37	chr13	28143294	28143294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaacagtctgcttctGgagataaggtacctgcagga	10	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:28143294G>A	uc001url.3	-	3	836	c.527C>T	c.(526-528)CCA>CTA	p.P176L	LNX2_uc001urm.1_Missense_Mutation_p.P176L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	176							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		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)		GTCTGCTTCTGGAGATAAGGT	0.527													A	28143294	G	A	28143294	3	1	272	1	0	0	0	0	1	0	0	0	8866	1348	47	4	1577	4	LNX2	13	28143294	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	129051	28143294	87026584	1370	136481											
FLT1	2321	broad.mit.edu	37	chr13	29041262	29041262	+	Frame_Shift_Del	DEL	C	C	-													agaccatttatgggctgcttCccccctgcaatcacagataa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:29041262delC	uc001usb.3	-	3	451	c.166delG	c.(166-168)GAAfs	p.E56fs	FLT1_uc010aar.1_Frame_Shift_Del_p.E56fs|FLT1_uc001usc.3_Frame_Shift_Del_p.E56fs|FLT1_uc010tdp.1_Frame_Shift_Del_p.E56fs|FLT1_uc001usd.2_Frame_Shift_Del_p.E56fs	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	56	Ig-like C2-type 1.|Extracellular (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	TGGGCTGCTTCCCCCCTGCAA	0.453													-	29041262	C	-	29041262	7	5	272	1	0	1	0	1	0	0	0	0	5941	864	30	0	4225	0	FLT1	13	29041262	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	897968	29041262	86128616	1371	136482											
C13orf33	84935	broad.mit.edu	37	chr13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-													cggggagccggcggcggcgcGggggggcttcaacgtcttcg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582													-	31480852	G	-	31480852	7	5	272	1	0	1	0	1	0	0	0	0	1727	1116	39	0	202	0	C13orf33	13	31480852	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2439590	31480852	83689026	1372	136483											
PDS5B	23047	broad.mit.edu	37	chr13	33306284	33306284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctaaaaaaggaccccccCgtcaagccaaatatgccatt	5	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:33306284C>T	uc010abf.2	+	20	2328	c.2170C>T	c.(2170-2172)CGT>TGT	p.R724C	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	724					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		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)		AGGACCCCCCCGTCAAGCCAA	0.333													T	33306284	C	T	33306284	3	4	272	1	0	0	0	0	1	0	0	0	11692	652	23	1	2244	1	PDS5B	13	33306284	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1825432	33306284	81863594	1373	136484											
SOHLH2	54937	broad.mit.edu	37	chr13	36765933	36765933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaacaaaaaactaaccAggcaaatagatcagtaggaa	7	6	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:36765933A>G	uc001uvj.2	-	5	618	c.529T>C	c.(529-531)TGC>CGC	p.C177R	SOHLH2_uc010tei.1_Missense_Mutation_p.C254R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	177					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		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)		AAAACTAACCAGGCAAATAGA	0.303													G	36765933	A	G	36765933	3	3	272	1	0	0	0	0	1	0	0	0	14924	202	7	3	776	3	SOHLH2	13	36765933	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3459649	36765933	78403945	1374	136485											
POSTN	10631	broad.mit.edu	37	chr13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-													ccatcaatgattttggtgtaTtttttaataattggctctaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:38144789_38144789AT>A	uc001uwo.4	-	18	2315	c.2197_2197AT>T	c.(2197-2199)tacfs	p.Y733fs	POSTN_uc010tet.2_Frame_Shift_Del_p.Y234fs|POSTN_uc001uwp.4_Frame_Shift_Del_p.Y676fs|POSTN_uc001uwr.3_Frame_Shift_Del_p.Y706fs|POSTN_uc001uwq.3_Frame_Shift_Del_p.Y676fs|POSTN_uc010teu.1_Frame_Shift_Del_p.Y706fs|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	733					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)		ATTTTGGTGTATTTTTTAATA	0.338													-	38144790	T	-	38144790	7	5	272	1	0	1	0	1	0	0	0	0	12259	1490	52	0	334	0	POSTN	13	38144790	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1378857	38144790	77025088	1375	136486											
TRPC4	7223	broad.mit.edu	37	chr13	38211510	38211510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcctgaaccaccagggCagagccattgcttatgttat	10	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:38211510C>T	uc001uws.2	-	11	2699	c.2464G>A	c.(2464-2466)GCC>ACC	p.A822T	TRPC4_uc010abv.2_Missense_Mutation_p.A402T|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.A649T|TRPC4_uc010abx.2_Missense_Mutation_p.A827T|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	822	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|breast(1)	6				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)		ACCACCAGGGCAGAGCCATTG	0.418													T	38211510	C	T	38211510	3	4	272	1	0	0	0	0	1	0	0	0	16577	710	25	2	473	2	TRPC4	13	38211510	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	66720	38211510	76958368	1376	136487											
ZC3H13	23091	broad.mit.edu	37	chr13	46549464	46549464	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggattcctatcttctcGgatctcttctcgcttttctc	5	13	6	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:46549464G>A	uc010tfw.1	-	11	2428	c.2422C>T	c.(2422-2424)CGA>TGA	p.R808*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R808*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R808*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	808	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		CTATCTTCTCGGATCTCTTCT	0.323													A	46549464	G	A	46549464	4	1	272	1	0	0	0	0	0	1	0	0	17562	1124	39	1	2296	1	ZC3H13	13	46549464	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	8337954	46549464	68620414	1377	136488											
C13orf18	80183	broad.mit.edu	37	chr13	46917574	46917574	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctcctcgctgtgatcctCgcacaccgggggcactcgga	11	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:46917574C>T	uc010acl.2	-	15	2540	c.1935G>A	c.(1933-1935)GCG>GCA	p.A645A	C13orf18_uc010tfy.1_Silent_p.A168A|C13orf18_uc001vbf.3_Silent_p.A578A|C13orf18_uc001vbg.3_Silent_p.A373A|C13orf18_uc010tfz.1_Silent_p.A488A|C13orf18_uc010acm.2_Silent_p.A510A|C13orf18_uc010acn.2_Silent_p.A430A|C13orf18_uc001vbe.3_Missense_Mutation_p.R594Q|C13orf18_uc001vbh.3_Silent_p.A645A|C13orf18_uc001vbi.3_Silent_p.A488A	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	645											0		Lung NSC(96;2.31e-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;2.19e-05)		CTGTGATCCTCGCACACCGGG	0.517													T	46917574	C	T	46917574	2	4	272	1	0	0	0	0	0	0	0	1	1720	871	31	1		1	C13orf18	13	46917574	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	368110	46917574	68252304	1378	136489											
RCBTB2	1102	broad.mit.edu	37	chr13	49070346	49070346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcatcatacttcaccGcagccgagagcagagcgatg	11	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:49070346G>A	uc001vch.2	-	14	1867	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	RCBTB2_uc010tgg.1_Missense_Mutation_p.A504V|RCBTB2_uc001vci.2_Missense_Mutation_p.A475V|RCBTB2_uc010tgh.1_Missense_Mutation_p.A225V|RCBTB2_uc001vcj.2_Missense_Mutation_p.A451V	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	499	BTB 2.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		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)		ATACTTCACCGCAGCCGAGAG	0.478													A	49070346	G	A	49070346	3	1	272	1	0	0	0	0	1	0	0	0	13172	1087	38	1	167	1	RCBTB2	13	49070346	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2152772	49070346	66099532	1379	136490											
MLNR	2862	broad.mit.edu	37	chr13	49794847	49794847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggctgcacctacgccaCgctgctgcacatgaccgcgc	12	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:49794847C>T	uc010tgj.1	+	1	374	c.374C>T	c.(373-375)ACG>ATG	p.T125M		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	125	Helical; Name=3; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		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)		ACCTACGCCACGCTGCTGCAC	0.741													T	49794847	C	T	49794847	3	4	272	1	0	0	0	0	1	0	0	0	9632	536	19	1	376	1	MLNR	13	49794847	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	724501	49794847	65375031	1380	136491											
MLNR	2862	broad.mit.edu	37	chr13	49796368	49796368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagaagtacagagcggCggcctttaaactgctgctcg	11	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:49796368C>T	uc010tgj.1	+	2	1094	c.1094C>T	c.(1093-1095)GCG>GTG	p.A365V		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	365	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		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)		TACAGAGCGGCGGCCTTTAAA	0.522													T	49796368	C	T	49796368	3	4	272	1	0	0	0	0	1	0	0	0	9632	768	27	1	1100	1	MLNR	13	49796368	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1521	49796368	65373510	1381	136492											
WDFY2	115825	broad.mit.edu	37	chr13	52325544	52325544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaacatggacgtggagaGgcaggaggtaggtggcacag	19	6	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:52325544G>T	uc001vfp.2	+	8	1164	c.824G>T	c.(823-825)AGG>ATG	p.R275M	WDFY2_uc010ads.1_Missense_Mutation_p.R275M|WDFY2_uc010adt.1_RNA	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	275	WD 6.						metal ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GACGTGGAGAGGCAGGAGGTA	0.547													T	52325544	G	T	52325544	3	4	272	1	0	0	0	0	1	0	0	0	17266	1000	35	5	854	5	WDFY2	13	52325544	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2529176	52325544	62844334	1382	136493											
CKAP2	26586	broad.mit.edu	37	chr13	53042429	53042429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagcctattgaagagatgcGacacacgattgtagatattc	9	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:53042429G>A	uc001vgv.2	+	7	1693	c.1496G>A	c.(1495-1497)CGA>CAA	p.R499Q	CKAP2_uc001vgu.2_Missense_Mutation_p.R498Q|CKAP2_uc010tha.1_Missense_Mutation_p.R450Q	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	499					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		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)		GAAGAGATGCGACACACGATT	0.294													A	53042429	G	A	53042429	3	1	272	1	0	0	0	0	1	0	0	0	3442	1058	37	1	1522	1	CKAP2	13	53042429	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	716885	53042429	62127449	1383	136494											
PCDH8	5100	broad.mit.edu	37	chr13	53421150	53421150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcactgtgcgcagcgggggCgcgccgcgatcctcggccac	16	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:53421150C>T	uc001vhi.2	-	1	1625	c.1422G>A	c.(1420-1422)GCG>GCA	p.A474A	PCDH8_uc001vhj.2_Silent_p.A474A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	474	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		GCAGCGGGGGCGCGCCGCGAT	0.711													T	53421150	C	T	53421150	2	4	272	1	0	0	0	0	0	0	0	1	11517	755	27	1		1	PCDH8	13	53421150	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	378721	53421150	61748728	1384	136495											
PCDH8	5100	broad.mit.edu	37	chr13	53422176	53422176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccctggggaagcgcggCgcgtggtcgttgacgtccct	18	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:53422176C>T	uc001vhi.2	-	1	599	c.396G>A	c.(394-396)GCG>GCA	p.A132A	PCDH8_uc001vhj.2_Silent_p.A132A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	132	Extracellular (Potential).|Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		GGAAGCGCGGCGCGTGGTCGT	0.692													T	53422176	C	T	53422176	2	4	272	1	0	0	0	0	0	0	0	1	11517	755	27	1		1	PCDH8	13	53422176	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1026	53422176	61747702	1385	136496											
TDRD3	81550	broad.mit.edu	37	chr13	61102729	61102729	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgaaagaccaagtacttCttcagtatctgaagtatggg	9	7	4	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:61102729C>T	uc001via.2	+	11	1879	c.1091C>T	c.(1090-1092)TCT>TTT	p.S364F	TDRD3_uc010aef.2_Missense_Mutation_p.S189F|TDRD3_uc001vhz.3_Missense_Mutation_p.S364F|TDRD3_uc010aeg.2_Missense_Mutation_p.S457F|TDRD3_uc001vib.3_Missense_Mutation_p.S363F	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	364					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCAAGTACTTCTTCAGTATCT	0.378													T	61102729	C	T	61102729	3	4	272	1	0	0	0	0	1	0	0	0	15729	913	32	4	1412	4	TDRD3	13	61102729	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7680553	61102729	54067149	1386	136497											
TDRD3	81550	broad.mit.edu	37	chr13	61102745	61102745	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttcttcagtatctgaagtAtgggctgaagacagaatcaa	9	7	4	4	rs139943757	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:61102745A>T	uc001via.2	+	11	1895	c.1107A>T	c.(1105-1107)GTA>GTT	p.V369V	TDRD3_uc010aef.2_Silent_p.V194V|TDRD3_uc001vhz.3_Silent_p.V369V|TDRD3_uc010aeg.2_Silent_p.V462V|TDRD3_uc001vib.3_Silent_p.V368V	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	369					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TATCTGAAGTATGGGCTGAAG	0.373													T	61102745	A	T	61102745	2	4	272	1	0	0	0	0	0	0	0	1	15729	436	16	5		5	TDRD3	13	61102745	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	16	61102745	54067133	1387	136498											
PCDH9	5101	broad.mit.edu	37	chr13	67800275	67800275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggaatacaagcacaagCgtgtgcaaagacttagggta	11	6	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:67800275C>T	uc001vik.2	-	2	2990	c.2298G>A	c.(2296-2298)ACG>ACA	p.T766T	PCDH9_uc001vil.2_Silent_p.T766T|PCDH9_uc010thl.1_Silent_p.T766T|PCDH9_uc001vin.3_Silent_p.T766T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	766	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAAGCACAAGCGTGTGCAAAG	0.463													T	67800275	C	T	67800275	2	4	272	1	0	0	0	0	0	0	0	1	11518	755	27	1		1	PCDH9	13	67800275	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6697530	67800275	47369603	1388	136499											
KLHL1	57626	broad.mit.edu	37	chr13	70681728	70681728	+	Frame_Shift_Del	DEL	C	C	-													cgtcctgttgcaggcagcctCcccccgccgggccgccggtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:70681727_70681727TC>T	uc001vip.3	-	0	899	c.105_105GA>A	c.(103-105)ggafs	p.G35fs	KLHL1_uc010thm.2_Frame_Shift_Del_p.G35fs|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	35					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)		GCAGGCAGCCTCCCCCCGCCG	0.617													-	70681728	C	-	70681728	7	5	272	1	0	1	0	1	0	0	0	0	8365	855	30	0	2186	0	KLHL1	13	70681728	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2881453	70681728	44488150	1389	136500											
DACH1	1602	broad.mit.edu	37	chr13	72049984	72049984	+	Splice_Site	DEL	A	A	-													gcctcttttgaactatggctAaaaaagagtgtatgcatatt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:72049983_72049983TA>T	uc021rkj.1	-	9	2300	c.1877_splice	c.e9-1	p.A626_splice	DACH1_uc021rkk.1_Splice_Site_p.A478_splice|DACH1_uc021rkl.1_Splice_Site_p.A424_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	676	DACHbox-C.				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)		GAACTATGGCTAAAAAAGAGT	0.308													-	72049984	A	-	72049984	8	5	272	1	0	1	0	1	0	0	1	0	4220	377	13	0		0	DACH1	13	72049984	Splice_Site	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1368256	72049984	43119894	1390	136501											
DIS3	22894	broad.mit.edu	37	chr13	73336167	73336167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagcttgcatcatacagcGagtggctaatattctcaaca	7	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:73336167G>A	uc001vix.3	-	17	2610	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C	DIS3_uc001viy.3_Missense_Mutation_p.R716C|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	746					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)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATCATACAGCGAGTGGCTAAT	0.398										Multiple Myeloma(4;0.011)			A	73336167	G	A	73336167	3	1	272	1	0	0	0	0	1	0	0	0	4535	1058	37	1	660	1	DIS3	13	73336167	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1286183	73336167	41833711	1391	136502											
LMO7	4008	broad.mit.edu	37	chr13	76397790	76397790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgcaccaagcccggaCgcaagccaactggcttcaag	9	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:76397790C>T	uc001vjv.2	+	12	2791	c.2031C>T	c.(2029-2031)GAC>GAT	p.D677D	LMO7_uc010thv.1_Silent_p.D628D|LMO7_uc001vjt.1_Silent_p.D576D|LMO7_uc010thw.1_Silent_p.D527D|LMO7_uc001vjw.1_Silent_p.D583D	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	962						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAGCCCGGACGCAAGCCAAC	0.473													T	76397790	C	T	76397790	2	4	272	1	0	0	0	0	0	0	0	1	8855	535	19	1		1	LMO7	13	76397790	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3061623	76397790	38772088	1392	136503											
MYCBP2	23077	broad.mit.edu	37	chr13	77651309	77651309	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaatcagtctgaatactcGcagagtctcagcttcacagt	8	11	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:77651309G>A	uc001vkf.2	-	68	11675	c.11584C>T	c.(11584-11586)CGA>TGA	p.R3862*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.R3266*|MYCBP2_uc001vke.2_Nonsense_Mutation_p.R482*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGAATACTCGCAGAGTCTCA	0.408													A	77651309	G	A	77651309	4	1	272	1	0	0	0	0	0	1	0	0	10018	1095	38	1	2406	1	MYCBP2	13	77651309	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1253519	77651309	37518569	1393	136504											
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-													ttcacaggtcattagtgtatAaaaaaatgcagtgatggcca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:78475266_78475266TA>T	uc001vkp.1	-	4	1301	c.1148_1148TA>A	c.(1147-1149)tatfs	p.Y383fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Y293fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	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.N382I(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)	CATTAGTGTATAAAAAAATGC	0.338													-	78475267	A	-	78475267	7	5	272	1	0	1	0	1	0	0	0	0	4920	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	823958	78475267	36694611	1394	136505											
SLITRK5	26050	broad.mit.edu	37	chr13	88328655	88328655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggggactcgccaacccAacaagcccagggtgcgcccc	11	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:88328655A>G	uc001vln.2	+	2	1231	c.1012A>G	c.(1012-1014)AAC>GAC	p.N338D	SLITRK5_uc010tic.1_Missense_Mutation_p.N97D	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	338	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCGCCAACCCAACAAGCCCAG	0.587													G	88328655	A	G	88328655	3	3	272	1	0	0	0	0	1	0	0	0	14746	130	5	3	1014	3	SLITRK5	13	88328655	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	9853388	88328655	26841223	1395	136506											
GPC5	2262	broad.mit.edu	37	chr13	92345659	92345659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccacctcattaaccctGgtgtgactgacagttccctg	7	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:92345659G>A	uc010tif.1	+	3	910	c.544G>A	c.(544-546)GGT>AGT	p.G182S		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	182						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATTAACCCTGGTGTGACTGA	0.443													A	92345659	G	A	92345659	3	1	272	1	0	0	0	0	1	0	0	0	6601	1348	47	4	554	4	GPC5	13	92345659	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4017004	92345659	22824219	1396	136507											
SOX21	11166	broad.mit.edu	37	chr13	95364183	95364183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccactcggcgcccaagcGcttgctgatctccgagttgt	10	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:95364183G>A	uc001vma.2	-	1	207	c.121C>T	c.(121-123)CGC>TGC	p.R41C	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	41	HMG box.			R -> P (in Ref. 4; CAA50466).	regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GCGCCCAAGCGCTTGCTGATC	0.627													A	95364183	G	A	95364183	3	1	272	1	0	0	0	0	1	0	0	0	14950	1087	38	1	713	1	SOX21	13	95364183	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3018524	95364183	19805695	1397	136508											
DZIP1	22873	broad.mit.edu	37	chr13	96293996	96293996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcaggggccccgaagcCgcgctggggggcgcacaggc	20	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:96293996C>T	uc001vmk.2	-	5	1002	c.150G>A	c.(148-150)GCG>GCA	p.A50A	DZIP1_uc001vml.2_Silent_p.A50A|DZIP1_uc001vmn.2_Silent_p.A39A	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	50					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCCCCGAAGCCGCGCTGGGGG	0.746													T	96293996	C	T	96293996	2	4	272	1	0	0	0	0	0	0	0	1	4863	639	23	1		1	DZIP1	13	96293996	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	929813	96293996	18875882	1398	136509											
UGGT2	55757	broad.mit.edu	37	chr13	96589237	96589237	+	Frame_Shift_Del	DEL	T	T	-													cattctttgaagaacagccaTttttagttctttaatattca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:96589236_96589236AT>A	uc001vmt.3	-	16	2089	c.1919_1919AT>T	c.(1918-1920)atgfs	p.M640fs		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	640					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	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						AAGAACAGCCATTTTTAGTTC	0.318													-	96589237	T	-	96589237	7	5	272	1	0	1	0	1	0	0	0	0	16939	1493	52	0	2724	0	UGGT2	13	96589237	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	295241	96589237	18580641	1399	136510											
MBNL2	10150	broad.mit.edu	37	chr13	97999120	97999120	+	Frame_Shift_Del	DEL	C	C	-													accgactgccgctttgcacaCcccgcagacagcaccatgat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:97999119_97999119AC>A	uc010aft.3	+	4	1418	c.602_602AC>A	c.(601-603)cacfs	p.H201fs	MBNL2_uc001vmz.3_Frame_Shift_Del_p.H201fs|MBNL2_uc001vna.3_Frame_Shift_Del_p.H201fs|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Intron|MBNL2_uc001vnc.3_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	201					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CGCTTTGCACACCCCGCAGAC	0.537													-	97999120	C	-	97999120	7	5	272	1	0	1	0	1	0	0	0	0	9354	506	18	0	617	0	MBNL2	13	97999120	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1409883	97999120	17170758	1400	136511											
IPO5	3843	broad.mit.edu	37	chr13	98669010	98669011	+	Frame_Shift_Del	DEL	AA	AA	-													atgatgtttatattctgaccAaagtgtcagatattttacac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:98669009_98669010CAA>C	uc001vne.3	+	24	2754_2755	c.2574_2575CAA>C	c.(2572-2577)accaaafs	p.T858fs		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	840					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATATTCTGACCAAAGTGTCAGA	0.282													-	98669011	AA	-	98669010	7	5	272	1	0	1	0	1	0	0	0	0	7796	131	5	0	2665	0	IPO5	13	98669010	Frame_Shift_Del	DEL	AA	TCGA-HU-A4GQ-01A-11D-A25D-08	669890	98669010	16500868	1401	136512											
RNF113B	140432	broad.mit.edu	37	chr13	98828808	98828808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgaccctcttcaagctccCgttcaatctcccacccgagc	6	19	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:98828808C>T	uc001vnk.2	-	1	714	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	228							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TTCAAGCTCCCGTTCAATCTC	0.522													T	98828808	C	T	98828808	3	4	272	1	0	0	0	0	1	0	0	0	13428	652	23	1	293	1	RNF113B	13	98828808	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	159798	98828808	16341070	1402	136513											
FARP1	10160	broad.mit.edu	37	chr13	99091389	99091389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctgctatacacgagccGggggctgacggcctccaatc	12	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:99091389G>A	uc001vnj.2	+	21	2708	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q	FARP1_uc001vnh.2_Missense_Mutation_p.R822Q	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	791	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TACACGAGCCGGGGGCTGACG	0.597													A	99091389	G	A	99091389	3	1	272	1	0	0	0	0	1	0	0	0	5676	1116	39	1	2673	1	FARP1	13	99091389	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	262581	99091389	16078489	1403	136514											
DOCK9	23348	broad.mit.edu	37	chr13	99532924	99532924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggctcagccttatacgcGtactttgaagaaaagagaaa	9	7	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:99532924G>A	uc001vnt.2	-	26	2806	c.2751C>T	c.(2749-2751)TAC>TAT	p.Y917Y	DOCK9_uc001vnw.2_Silent_p.Y916Y|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.Y917Y|DOCK9_uc010tis.1_Silent_p.Y916Y|DOCK9_uc010tit.1_Silent_p.Y917Y|DOCK9_uc010afu.1_Silent_p.Y763Y	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	917					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTATACGCGTACTTTGAAG	0.463													A	99532924	G	A	99532924	2	1	272	1	0	0	0	0	0	0	0	1	4694	1140	40	1		1	DOCK9	13	99532924	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	441535	99532924	15636954	1404	136515											
TM9SF2	9375	broad.mit.edu	37	chr13	100169934	100169934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccttatgaatacacaGcgtaagtttttcagcttggc	7	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:100169934G>A	uc001voj.1	+	2	371	c.238G>A	c.(238-240)GCG>ACG	p.A80T	TM9SF2_uc010afz.1_Missense_Mutation_p.A80T	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	80	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TGAATACACAGCGTAAGTTTT	0.318													A	100169934	G	A	100169934	3	1	272	1	0	0	0	0	1	0	0	0	15975	985	34	2	244	2	TM9SF2	13	100169934	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	637010	100169934	14999944	1405	136516											
NALCN	259232	broad.mit.edu	37	chr13	101735208	101735208	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgacattgttgccaaaggTacggtcaccgggtcctcgac	11	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:101735208T>G	uc001vox.1	-	33	3906	c.3717A>C	c.(3715-3717)GTA>GTC	p.V1239V		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1239	Helical; Name=S2 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGCCAAAGGTACGGTCACCG	0.517													G	101735208	T	G	101735208	2	3	272	1	0	0	0	0	0	0	0	1	10148	1625	57	5		5	NALCN	13	101735208	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1565274	101735208	13434670	1406	136517											
TPP2	7174	broad.mit.edu	37	chr13	103266498	103266498	+	Frame_Shift_Del	DEL	A	A	-													ggcaaatatcatattggcatAaaaaatggctatgacttcta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:103266497_103266497TA>T	uc001vpi.4	+	2	444	c.341_341TA>T	c.(340-342)atafs	p.I114fs		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	114					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)					CATATTGGCATAAAAAATGGC	0.368													-	103266498	A	-	103266498	7	5	272	1	0	1	0	1	0	0	0	0	16409	352	13	0	352	0	TPP2	13	103266498	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1531290	103266498	11903380	1407	136518											
COL4A2	1284	broad.mit.edu	37	chr13	111117863	111117863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggccttcccggcctcaaaGgccaacgtggtttccctgga	12	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:111117863G>T	uc001vqx.2	+	25	2177	c.1888G>T	c.(1888-1890)GGC>TGC	p.G630C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	630	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			CGGCCTCAAAGGCCAACGTGG	0.637													T	111117863	G	T	111117863	3	4	272	1	0	0	0	0	1	0	0	0	3690	1000	35	5	1982	5	COL4A2	13	111117863	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7851365	111117863	4052015	1408	136519											
MCF2L	23263	broad.mit.edu	37	chr13	113728775	113728775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcaaagccatcttggaCgcagcgtcccagaagatagc	11	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:113728775C>T	uc001vsu.2	+	10	1207	c.1185C>T	c.(1183-1185)GAC>GAT	p.D395D	MCF2L_uc001vsq.2_Silent_p.D395D|MCF2L_uc010tjr.1_Silent_p.D338D|MCF2L_uc001vsr.2_Silent_p.D342D|MCF2L_uc001vss.3_Silent_p.D336D|MCF2L_uc010tjs.1_Silent_p.D336D|MCF2L_uc001vst.1_Silent_p.D300D	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	368	Spectrin.				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			ovary(1)|kidney(1)	2	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)				CCATCTTGGACGCAGCGTCCC	0.587													T	113728775	C	T	113728775	2	4	272	1	0	0	0	0	0	0	0	1	9379	535	19	1		1	MCF2L	13	113728775	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2610912	113728775	1441103	1409	136520											
OR4N2	390429	broad.mit.edu	37	chr14	20295661	20295661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcctccttggtctgacCcagtctcaagatattcagct	6	13	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:20295661C>T	uc010tkv.1	+	1	54	c.54C>T	c.(52-54)ACC>ACT	p.T18T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383													T	20295661	C	T	20295661	2	4	272	1	0	0	0	0	0	0	0	1	11077	610	22	4		4	OR4N2	14	20295661	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		20295661	87053879	1410	136521											
TEP1	7011	broad.mit.edu	37	chr14	20850793	20850793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaactgacctgctcatacaGcgtgaagagcctcaggtgat	11	10	2	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:20850793G>A	uc001vxe.2	-	28	4169	c.4129C>T	c.(4129-4131)CTG>TTG	p.L1377L	TEP1_uc010ahk.2_Silent_p.L720L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L1269L|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1377	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	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)		TGCTCATACAGCGTGAAGAGC	0.547													A	20850793	G	A	20850793	2	1	272	1	0	0	0	0	0	0	0	1	15756	962	34	2		2	TEP1	14	20850793	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	555132	20850793	86498747	1411	136522											
METT11D1	64745	broad.mit.edu	37	chr14	21464425	21464425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgtagcttctcacagGcgtaccatcccatccccttc	7	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21464425G>A	uc001vyn.2	+	12	1251	c.1054G>A	c.(1054-1056)GCG>ACG	p.A352T	METT11D1_uc001vym.2_Missense_Mutation_p.A352T|METT11D1_uc001vyo.2_Missense_Mutation_p.A352T|METT11D1_uc001vyp.2_Missense_Mutation_p.A194T|METT11D1_uc001vyq.2_Missense_Mutation_p.A194T|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	352					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTTCTCACAGGCGTACCATCC	0.478													A	21464425	G	A	21464425	3	1	272	1	0	0	0	0	1	0	0	0	9491	1203	42	2	1100	2	METT11D1	14	21464425	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	613632	21464425	85885115	1412	136523											
ZNF219	51222	broad.mit.edu	37	chr14	21561363	21561363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgctcacggctggcccGttggagtatcgctgcagatc	13	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21561363G>A	uc001vzr.2	-	3	514	c.93C>T	c.(91-93)AAC>AAT	p.N31N	ZNF219_uc001vzs.2_Silent_p.N31N|ZNF219_uc010aik.1_Silent_p.N31N	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	31					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			central_nervous_system(1)	1	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)		CGGCTGGCCCGTTGGAGTATC	0.687											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21561363	G	A	21561363	2	1	272	1	0	0	0	0	0	0	0	1	17770	1136	40	1		1	ZNF219	14	21561363	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	96938	21561363	85788177	1413	136524											
RPGRIP1	57096	broad.mit.edu	37	chr14	21769319	21769319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctgccagcccccgccGcgcccagcctcgcgtccaag	11	23	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21769319G>A	uc001wag.2	+	3	413	c.413G>A	c.(412-414)CGC>CAC	p.R138H		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	138					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	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)		AGCCCCCGCCGCGCCCAGCCT	0.672													A	21769319	G	A	21769319	3	1	272	1	0	0	0	0	1	0	0	0	13549	1087	38	1	423	1	RPGRIP1	14	21769319	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	207956	21769319	85580221	1414	136525											
CHD8	57680	broad.mit.edu	37	chr14	21861839	21861839	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcgcatctcatagtcttGtggggttggtcggctcctgg	13	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21861839G>A	uc001was.1	-	32	5372	c.5278C>T	c.(5278-5280)CAA>TAA	p.Q1760*	CHD8_uc001war.1_Nonsense_Mutation_p.Q1656*|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2039					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCATAGTCTTGTGGGGTTGGT	0.547													A	21861839	G	A	21861839	4	1	272	1	0	0	0	0	0	1	0	0	3331	1386	48	4	1658	4	CHD8	14	21861839	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	92520	21861839	85487701	1415	136526											
CHD8	57680	broad.mit.edu	37	chr14	21868737	21868737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatacgtcgcttgaagcGtccatgagataaaatatctc	8	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21868737G>A	uc001was.1	-	23	3662	c.3568C>T	c.(3568-3570)CGC>TGC	p.R1190C	CHD8_uc001war.1_Missense_Mutation_p.R1086C|CHD8_uc001wav.1_Missense_Mutation_p.R632C	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1469					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGCTTGAAGCGTCCATGAGAT	0.423													A	21868737	G	A	21868737	3	1	272	1	0	0	0	0	1	0	0	0	3331	1145	40	1	3404	1	CHD8	14	21868737	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6898	21868737	85480803	1416	136527											
SALL2	6297	broad.mit.edu	37	chr14	21993476	21993476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccgctgtacctgtgGcagcgaccaggaaatgccct	11	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21993476G>A	uc001wbe.2	-	2	668	c.386C>T	c.(385-387)GCC>GTC	p.A129V	SALL2_uc010tly.1_Missense_Mutation_p.A127V|SALL2_uc010tlz.1_Missense_Mutation_p.A127V|SALL2_uc001wbf.3_Missense_Mutation_p.A127V|SALL2_uc010tma.1_Missense_Mutation_p.A129V|SALL2_uc001wbg.1_Missense_Mutation_p.A129V	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	129							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGTACCTGTGGCAGCGACCAG	0.652													A	21993476	G	A	21993476	3	1	272	1	0	0	0	0	1	0	0	0	13811	1203	42	2	2641	2	SALL2	14	21993476	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	124739	21993476	85356064	1417	136528											
ACIN1	22985	broad.mit.edu	37	chr14	23530581	23530581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggaccttgatcgggaaCggggcccttctcgaactttg	13	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23530581C>T	uc001wit.3	-	17	3852	c.3524G>A	c.(3523-3525)CGT>CAT	p.R1175H	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R417H|ACIN1_uc001wiq.3_Missense_Mutation_p.R417H|ACIN1_uc001wir.3_Missense_Mutation_p.R448H|ACIN1_uc001wis.3_Missense_Mutation_p.R856H|ACIN1_uc010akg.2_Missense_Mutation_p.R1162H	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1175	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGATCGGGAACGGGGCCCTTC	0.577													T	23530581	C	T	23530581	3	4	272	1	0	0	0	0	1	0	0	0	142	536	19	1	513	1	ACIN1	14	23530581	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1537105	23530581	83818959	1418	136529											
ACIN1	22985	broad.mit.edu	37	chr14	23530654	23530654	+	Frame_Shift_Del	DEL	G	G	-													ctcccgccgctccatttcccGttcccgttctgcccactgtt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23530653_23530653CG>C	uc001wit.4	-	16	3780	c.3452_3452CG>G	c.(3451-3453)cggfs	p.R1151fs	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.R393fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.R393fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.R424fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.R832fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.R1138fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.R1111fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1151	Arg/Asp/Glu/Lys-rich.				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)		CTCCATTTCCCGTTCCCGTTC	0.687													-	23530654	G	-	23530654	7	5	272	1	0	1	0	1	0	0	0	0	142	1144	40	0	586	0	ACIN1	14	23530654	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	73	23530654	83818886	1419	136530											
CEBPE	1053	broad.mit.edu	37	chr14	23586911	23586911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatgttgttgcgctcccGcctcagccggtactcaaggc	13	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23586911G>A	uc001wiv.1	-	2	805	c.631C>T	c.(631-633)CGG>TGG	p.R211W		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	211	Basic motif.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGCGCTCCCGCCTCAGCCGG	0.617													A	23586911	G	A	23586911	3	1	272	1	0	0	0	0	1	0	0	0	3202	1086	38	1	218	1	CEBPE	14	23586911	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	56257	23586911	83762629	1420	136531											
MYH6	4624	broad.mit.edu	37	chr14	23853752	23853752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcaccctccagctcccGcacccgcgcttccagcttct	6	22	2	0	rs150589765		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23853752G>A	uc001wjv.2	-	36	5531	c.5464C>T	c.(5464-5466)CGG>TGG	p.R1822W		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1822	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGCTCCCGCACCCGCGCT	0.642													A	23853752	G	A	23853752	3	1	272	1	0	0	0	0	1	0	0	0	10038	1086	38	1	371	1	MYH6	14	23853752	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	266841	23853752	83495788	1421	136532											
JPH4	84502	broad.mit.edu	37	chr14	24040144	24040144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggatctcaccggctggGcaggcctctcggttgcagcg	15	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24040144G>A	uc001wkq.2	-	6	2714	c.1796C>T	c.(1795-1797)GCC>GTC	p.A599V	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Missense_Mutation_p.A264V|JPH4_uc001wkr.2_Missense_Mutation_p.A599V	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	599	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CACCGGCTGGGCAGGCCTCTC	0.637													A	24040144	G	A	24040144	3	1	272	1	0	0	0	0	1	0	0	0	7963	1203	42	2	98	2	JPH4	14	24040144	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	186392	24040144	83309396	1422	136533											
LRRC16B	90668	broad.mit.edu	37	chr14	24523605	24523605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcttcgtctcccccagAtcctggtggagacggagcgt	13	13	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24523605A>G	uc001wlj.2	+	5	404	c.247A>G	c.(247-249)ATC>GTC	p.I83V		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	83										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TCTCCCCCAGATCCTGGTGGA	0.607													G	24523605	A	G	24523605	3	3	272	1	0	0	0	0	1	0	0	0	8972	347	12	3	265	3	LRRC16B	14	24523605	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	483461	24523605	82825935	1423	136534											
REC8	9985	broad.mit.edu	37	chr14	24642145	24642145	+	Frame_Shift_Del	DEL	C	C	-													acgtgctggtacgagtgcaaCccccgcagcccggcctgccg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24642144_24642144AC>A	uc001wmr.3	+	3	589	c.162_162AC>A	c.(160-162)caafs	p.Q54fs	REC8_uc001wms.3_Frame_Shift_Del_p.Q54fs	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	54					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)		TACGAGTGCAACCCCCGCAGC	0.612													-	24642145	C	-	24642145	7	5	272	1	0	1	0	1	0	0	0	0	13199	507	18	0	173	0	REC8	14	24642145	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	118540	24642145	82707395	1424	136535											
NFATC4	4776	broad.mit.edu	37	chr14	24838726	24838726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggactcagaggatgcccCgccatgctgccgtctggcct	12	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24838726C>T	uc001wpc.2	+	2	443	c.122C>T	c.(121-123)CCG>CTG	p.P41L	NFATC4_uc010tok.1_Missense_Mutation_p.P104L|NFATC4_uc010tol.1_Missense_Mutation_p.P104L|NFATC4_uc010alr.2_Missense_Mutation_p.P104L|NFATC4_uc010als.2_Missense_Mutation_p.P54L|NFATC4_uc010tom.1_Missense_Mutation_p.P54L|NFATC4_uc010ton.1_Missense_Mutation_p.P54L|NFATC4_uc010too.1_Missense_Mutation_p.P54L|NFATC4_uc010alt.2_Missense_Mutation_p.P73L|NFATC4_uc010top.1_Missense_Mutation_p.P73L|NFATC4_uc010toq.1_Missense_Mutation_p.P73L|NFATC4_uc010alu.2_Missense_Mutation_p.P41L|NFATC4_uc010tor.1_Missense_Mutation_p.P41L|NFATC4_uc010tos.1_5'UTR|NFATC4_uc010tot.1_Missense_Mutation_p.P29L|NFATC4_uc010tou.1_5'UTR|NFATC4_uc010tov.1_Missense_Mutation_p.P29L|NFATC4_uc010tow.1_5'UTR|NFATC4_uc010alv.2_Missense_Mutation_p.P29L|NFATC4_uc010tox.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	41	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			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GAGGATGCCCCGCCATGCTGC	0.607													T	24838726	C	T	24838726	3	4	272	1	0	0	0	0	1	0	0	0	10365	652	23	1	321	1	NFATC4	14	24838726	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	196581	24838726	82510814	1425	136536											
PRKD1	5587	broad.mit.edu	37	chr14	30066753	30066753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaagctgcattctgaAtttggtcgtgtatgtcttca	9	7	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:30066753A>G	uc001wqh.2	-	16	2559	c.2378T>C	c.(2377-2379)ATT>ACT	p.I793T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	793	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGCATTCTGAATTTGGTCGTG	0.373													G	30066753	A	G	30066753	3	3	272	1	0	0	0	0	1	0	0	0	12518	101	4	3	372	3	PRKD1	14	30066753	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	5228027	30066753	77282787	1426	136537											
PRKD1	5587	broad.mit.edu	37	chr14	30135409	30135409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagtcttcaaaggtggCggaagctgtaaaaatagtga	12	5	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:30135409C>T	uc001wqh.2	-	3	590	c.409G>A	c.(409-411)GCC>ACC	p.A137T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	137					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAAAGGTGGCGGAAGCTGTA	0.403													T	30135409	C	T	30135409	3	4	272	1	0	0	0	0	1	0	0	0	12518	768	27	1	2393	1	PRKD1	14	30135409	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	68656	30135409	77214131	1427	136538											
ARHGAP5	394	broad.mit.edu	37	chr14	32560445	32560446	+	Frame_Shift_Ins	INS	-	-	A													ttgtccagttatcaaaatcaINSaaaaaacctgtaataatagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:32560444_32560445C>CA	uc001wrl.3	+	1	808_809	c.569_570C>CA	c.(568-570)tcafs	p.S190fs	ARHGAP5_uc001wrm.3_Frame_Shift_Ins_p.S190fs|ARHGAP5_uc001wrn.3_Frame_Shift_Ins_p.S190fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	190					Rho protein signal transduction|cell adhesion	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)		TTATCAAAATCAAAAAAACCTG	0.312													A	32560446	-	A	32560445	7	5	272	1	0	1	1	0	0	0	0	0	886	117	5	0	572	0	ARHGAP5	14	32560445	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	2425036	32560445	74789095	1428	136539											
AKAP6	9472	broad.mit.edu	37	chr14	33291887	33291887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatataagcgtgagcagtgGctcagttggtgaactaagta	14	5	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:33291887G>A	uc001wrq.2	+	13	5038	c.4868G>A	c.(4867-4869)GGC>GAC	p.G1623D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1623	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		GTGAGCAGTGGCTCAGTTGGT	0.418													A	33291887	G	A	33291887	3	1	272	1	0	0	0	0	1	0	0	0	455	1203	42	2	4914	2	AKAP6	14	33291887	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	731442	33291887	74057653	1429	136540											
AKAP6	9472	broad.mit.edu	37	chr14	33291932	33291932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattagatctcctgaatcGtttggagaatatccagagcc	8	9	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:33291932G>A	uc001wrq.2	+	13	5083	c.4913G>A	c.(4912-4914)CGT>CAT	p.R1638H		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1638	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		CTCCTGAATCGTTTGGAGAAT	0.428													A	33291932	G	A	33291932	3	1	272	1	0	0	0	0	1	0	0	0	455	1145	40	1	4959	1	AKAP6	14	33291932	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	45	33291932	74057608	1430	136541											
TRIM9	114088	broad.mit.edu	37	chr14	51561062	51561062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctaggggcccccggggcGggtggcagcgcaggcggcac	21	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:51561062G>A	uc001wyx.3	-	1	1361	c.596C>T	c.(595-597)CCG>CTG	p.P199L	TRIM9_uc001wyy.2_Missense_Mutation_p.P199L|TRIM9_uc001wyz.3_Missense_Mutation_p.P199L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	199	B box-type 1.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CCCCCGGGGCGGGTGGCAGCG	0.687													A	51561062	G	A	51561062	3	1	272	1	0	0	0	0	1	0	0	0	16546	1116	39	1	1626	1	TRIM9	14	51561062	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	18269130	51561062	55788478	1431	136542											
NID2	22795	broad.mit.edu	37	chr14	52494043	52494043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgccatcctcacagggGttggcaggtggggtgatcac	15	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:52494043G>A	uc001wzo.2	-	12	2784	c.2550C>T	c.(2548-2550)AAC>AAT	p.N850N	NID2_uc010tqs.1_Intron|NID2_uc010tqt.1_Silent_p.N850N|NID2_uc001wzp.2_Silent_p.N850N	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	850	EGF-like 4.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTCACAGGGGTTGGCAGGTG	0.488													A	52494043	G	A	52494043	2	1	272	1	0	0	0	0	0	0	0	1	10415	1252	44	4		4	NID2	14	52494043	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	932981	52494043	54855497	1432	136543											
NID2	22795	broad.mit.edu	37	chr14	52520475	52520475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagggctggatgcttccGttttcggggtacggtggtgg	20	6	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:52520475G>A	uc001wzo.2	-	5	1485	c.1251C>T	c.(1249-1251)AAC>AAT	p.N417N	NID2_uc010tqs.1_Silent_p.N417N|NID2_uc010tqt.1_Silent_p.N417N|NID2_uc001wzp.2_Silent_p.N417N	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	417						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					GGATGCTTCCGTTTTCGGGGT	0.557													A	52520475	G	A	52520475	2	1	272	1	0	0	0	0	0	0	0	1	10415	1136	40	1		1	NID2	14	52520475	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	26432	52520475	54829065	1433	136544											
DDHD1	80821	broad.mit.edu	37	chr14	53540568	53540568	+	Splice_Site	DEL	A	A	-													cttgcagcttctctcatcctAaaaaaacaaacaaacaaaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:53540567_53540567TA>T	uc001xai.3	-	5	1520	c.1290_splice	c.e5-1	p.M430_splice	DDHD1_uc001xaj.3_Splice_Site_p.M437_splice|DDHD1_uc001xah.3_Splice_Site_p.M430_splice|DDHD1_uc001xag.3_Splice_Site_p.M12_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	430					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)					TCTCTCATCCTAAAAAAACAA	0.313													-	53540568	A	-	53540568	8	5	272	1	0	1	0	1	0	0	1	0	4326	377	13	0		0	DDHD1	14	53540568	Splice_Site	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1020093	53540568	53808972	1434	136545											
KCNH5	27133	broad.mit.edu	37	chr14	63453879	63453879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctatttgtcaaagcccGtgtcaatcgggcaaatttcg	10	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:63453879G>A	uc001xfx.2	-	5	511	c.460C>T	c.(460-462)CGG>TGG	p.R154W	KCNH5_uc001xfy.2_Missense_Mutation_p.R154W|KCNH5_uc001xfz.1_Missense_Mutation_p.R96W|KCNH5_uc001xga.2_Missense_Mutation_p.R96W	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	154	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCAAAGCCCGTGTCAATCGG	0.383													A	63453879	G	A	63453879	3	1	272	1	0	0	0	0	1	0	0	0	8035	1144	40	1	2568	1	KCNH5	14	63453879	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	9913311	63453879	43895661	1435	136546											
SYNE2	23224	broad.mit.edu	37	chr14	64519635	64519635	+	Frame_Shift_Del	DEL	A	A	-													tcttacaggtattgaaacttAaaaaagtgtttgactatatt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:64519635delA	uc001xgm.2	+	48	9234	c.9004delA	c.(9004-9006)AAAfs	p.K3002fs	SYNE2_uc001xgl.2_Frame_Shift_Del_p.K3002fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3002	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTGAAACTTAAAAAAGTGTT	0.303													-	64519635	A	-	64519635	7	5	272	1	0	1	0	1	0	0	0	0	15443	363	13	0	9190	0	SYNE2	14	64519635	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1065756	64519635	42829905	1436	136547											
SYNE2	23224	broad.mit.edu	37	chr14	64681059	64681059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctagtggccccagggcacGagcggtctggctgcgagacc	15	13	2	1	rs140450053	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:64681059G>A	uc001xgm.2	+	106	19434	c.19204G>A	c.(19204-19206)GAG>AAG	p.E6402K	SYNE2_uc001xgl.2_Missense_Mutation_p.E6402K|SYNE2_uc010apy.2_Missense_Mutation_p.E2787K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1364K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E372K|SYNE2_uc001xgq.2_Missense_Mutation_p.E767K|SYNE2_uc001xgr.2_Missense_Mutation_p.E185K|SYNE2_uc010tsi.1_Missense_Mutation_p.E36K|SYNE2_uc001xgs.2_Missense_Mutation_p.E36K|SYNE2_uc001xgt.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6402	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCCAGGGCACGAGCGGTCTGG	0.622													A	64681059	G	A	64681059	3	1	272	1	0	0	0	0	1	0	0	0	15443	1059	37	1	19622	1	SYNE2	14	64681059	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	161424	64681059	42668481	1437	136548											
C14orf50	145376	broad.mit.edu	37	chr14	65054951	65054951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagtatcatcaagtagaCgtcagattcccagccgagat	8	9	3	3	rs147167561	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:65054951C>T	uc001xhl.1	+	11	1116	c.1020C>T	c.(1018-1020)GAC>GAT	p.D340D	C14orf50_uc001xhm.1_Silent_p.D70D	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	340										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		ATCAAGTAGACGTCAGATTCC	0.473													T	65054951	C	T	65054951	2	4	272	1	0	0	0	0	0	0	0	1	1777	535	19	1		1	C14orf50	14	65054951	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	373892	65054951	42294589	1438	136549											
MAX	4149	broad.mit.edu	37	chr14	65543363	65543363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttgggcacttgacctcGccttctccagtgcacggact	11	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:65543363G>A	uc001xif.1	-	5	484	c.314C>T	c.(313-315)GCG>GTG	p.A105V	MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Nonsense_Mutation_p.R19*|MAX_uc001xig.1_Missense_Mutation_p.A96V|MAX_uc001xih.1_RNA	NM_002382	NP_002373	P61244	MAX_HUMAN	MAX protein isoform a	105					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ACTTGACCTCGCCTTCTCCAG	0.577													A	65543363	G	A	65543363	3	1	272	1	0	0	0	0	1	0	0	0	9339	1087	38	1	257	1	MAX	14	65543363	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	488412	65543363	41806177	1439	136550											
GALNTL1	57452	broad.mit.edu	37	chr14	69798253	69798253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctaccttgcagcatctGctgaccttcgtggaggtgag	12	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:69798253G>A	uc010aqu.1	+	7	856	c.763G>A	c.(763-765)GCT>ACT	p.A255T	GALNTL1_uc001xla.1_Missense_Mutation_p.A255T|GALNTL1_uc001xlb.1_Missense_Mutation_p.A255T	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	255	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TGCAGCATCTGCTGACCTTCG	0.542													A	69798253	G	A	69798253	3	1	272	1	0	0	0	0	1	0	0	0	6221	1319	46	2	789	2	GALNTL1	14	69798253	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4254890	69798253	37551287	1440	136551											
ADAM20	8748	broad.mit.edu	37	chr14	70989358	70989358	+	Frame_Shift_Del	DEL	A	A	-													gcacatgtaagcaaaataatAaaaaagcaaccaaaggaaga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:70989357_70989357TA>T	uc021rvs.1	-	0	2268	c.2268_2268TA>A	c.(2266-2268)ttafs	p.L756fs	ADAM20_uc001xme.3_Frame_Shift_Del_p.L756fs	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	706					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)		AGCAAAATAATAAAAAAGCAA	0.358													-	70989358	A	-	70989358	7	5	272	1	0	1	0	1	0	0	0	0	242	372	13	0	67	0	ADAM20	14	70989358	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1191105	70989358	36360182	1441	136552											
PCNX	22990	broad.mit.edu	37	chr14	71575563	71575563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaccctcaggtcagagcGgcctggcctgtgtgcagcac	14	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:71575563G>A	uc001xmo.2	+	34	6990	c.6544G>A	c.(6544-6546)GGC>AGC	p.G2182S	PCNX_uc010are.1_Missense_Mutation_p.G2071S|PCNX_uc010arf.1_Missense_Mutation_p.G970S|PCNX_uc001xmp.2_Missense_Mutation_p.G266S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2182	Ser-rich.					integral to membrane				ovary(1)	1			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)		AGGTCAGAGCGGCCTGGCCTG	0.562													A	71575563	G	A	71575563	3	1	272	1	0	0	0	0	1	0	0	0	11591	1116	39	1	6678	1	PCNX	14	71575563	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	586205	71575563	35773977	1442	136553											
SIPA1L1	26037	broad.mit.edu	37	chr14	72191431	72191431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagcccacaccaggctgcGtgcctcaaccagagacctcc	8	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:72191431G>A	uc001xms.2	+	17	4904	c.4556G>A	c.(4555-4557)CGT>CAT	p.R1519H	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1498H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1498H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1519H|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R973H|SIPA1L1_uc001xmw.2_Missense_Mutation_p.R284H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1519					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCAGGCTGCGTGCCTCAACC	0.493													A	72191431	G	A	72191431	3	1	272	1	0	0	0	0	1	0	0	0	14329	1145	40	1	4618	1	SIPA1L1	14	72191431	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	615868	72191431	35158109	1443	136554											
RGS6	9628	broad.mit.edu	37	chr14	72818895	72818895	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctccaaaatccccagtgtCgtcacaggtaacaccctcct	5	17	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:72818895C>T	uc001xna.3	+	3	700	c.177C>T	c.(175-177)GTC>GTT	p.V59V	RGS6_uc010ttn.1_Silent_p.V59V|RGS6_uc001xmx.3_Silent_p.V59V|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.V59V	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	59	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|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				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)		TCCCCAGTGTCGTCACAGGTA	0.463													T	72818895	C	T	72818895	2	4	272	1	0	0	0	0	0	0	0	1	13309	871	31	1		1	RGS6	14	72818895	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	627464	72818895	34530645	1444	136555											
ABCD4	5826	broad.mit.edu	37	chr14	74769598	74769598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgccagctccgggcgcGggccccgcgaccgccatgac	15	19	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:74769598G>A	uc001xpr.2	-	1	170	c.18C>T	c.(16-18)CCC>CCT	p.P6P	ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_5'UTR|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	6						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTCCGGGCGCGGGCCCCGCGA	0.701											OREG0022802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74769598	G	A	74769598	2	1	272	1	0	0	0	0	0	0	0	1	63	1103	39	1		1	ABCD4	14	74769598	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1950703	74769598	32579942	1445	136556											
LTBP2	4053	broad.mit.edu	37	chr14	74995671	74995671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggttacctgtgccaggCagagggcatttctcacactc	12	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:74995671C>T	uc001xqa.2	-	11	2529	c.2142G>A	c.(2140-2142)CTG>CTA	p.L714L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	714	TB 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGTGCCAGGCAGAGGGCATT	0.607													T	74995671	C	T	74995671	2	4	272	1	0	0	0	0	0	0	0	1	9074	697	25	2		2	LTBP2	14	74995671	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	226073	74995671	32353869	1446	136557											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376455	75376455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagccccctagcaccGggccggccccctcaggaacc	11	21	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:75376455G>A	uc010tux.1	-	7	1589	c.1061C>T	c.(1060-1062)CCG>CTG	p.P354L	RPS6KL1_uc001xqx.1_Missense_Mutation_p.P106L|RPS6KL1_uc001xqw.2_Missense_Mutation_p.P323L|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	354	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCCTAGCACCGGGCCGGCCCC	0.701													A	75376455	G	A	75376455	3	1	272	1	0	0	0	0	1	0	0	0	13659	1116	39	1	681	1	RPS6KL1	14	75376455	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	380784	75376455	31973085	1447	136558											
MLH3	27030	broad.mit.edu	37	chr14	75516318	75516318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttatggccaaaccagaaCgcaatttggcttgtacttca	8	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:75516318C>T	uc001xrd.1	-	2	257	c.41G>A	c.(40-42)CGT>CAT	p.R14H	MLH3_uc001xre.1_Missense_Mutation_p.R14H|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	14					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CAAACCAGAACGCAATTTGGC	0.453								MMR					T	75516318	C	T	75516318	3	4	272	1	0	0	0	0	1	0	0	0	9618	536	19	1	4368	1	MLH3	14	75516318	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	139863	75516318	31833222	1448	136559											
C14orf118	55668	broad.mit.edu	37	chr14	76620816	76620816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccccgacagcagaggcGgcagcttcggaaacgccgag	15	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:76620816G>A	uc001xsh.2	+	2	196	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	C14orf118_uc001xsi.2_Missense_Mutation_p.R37Q|C14orf118_uc001xsj.1_Missense_Mutation_p.R37Q|C14orf118_uc001xsk.1_Missense_Mutation_p.R37Q|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	37	Arg-rich.									ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		CAGCAGAGGCGGCAGCTTCGG	0.582													A	76620816	G	A	76620816	3	1	272	1	0	0	0	0	1	0	0	0	1741	1116	39	1	112	1	C14orf118	14	76620816	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1104498	76620816	30728724	1449	136560											
STON2	85439	broad.mit.edu	37	chr14	81744277	81744277	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctcataatacagctGcaggtaaccagtgtctgtca	9	12	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:81744277G>A	uc010tvu.1	-	4	1579	c.1378C>T	c.(1378-1380)CAG>TAG	p.Q460*	STON2_uc001xvk.1_Nonsense_Mutation_p.Q460*|STON2_uc010tvt.1_Nonsense_Mutation_p.Q257*	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	460	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TAATACAGCTGCAGGTAACCA	0.483													A	81744277	G	A	81744277	4	1	272	1	0	0	0	0	0	1	0	0	15317	1328	46	2	1345	2	STON2	14	81744277	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5123461	81744277	25605263	1450	136561											
TTC7B	145567	broad.mit.edu	37	chr14	91247217	91247217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccacataattcaacttggCcatgatcagattggattctt	6	9	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:91247217C>A	uc001xyp.2	-	3	432	c.310G>T	c.(310-312)GCC>TCC	p.A104S		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	104	TPR 1.						binding			ovary(2)	2		Melanoma(154;0.222)				TTCAACTTGGCCATGATCAGA	0.463													A	91247217	C	A	91247217	3	1	272	1	0	0	0	0	1	0	0	0	16710	739	26	5	2293	5	TTC7B	14	91247217	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	9502940	91247217	16102323	1451	136562											
C14orf159	80017	broad.mit.edu	37	chr14	91671055	91671055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccttcccttcaggagtcGgtgatggaggcaacgagctt	12	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:91671055G>A	uc001xzb.2	+	14	2203	c.1435G>A	c.(1435-1437)GGT>AGT	p.G479S	C14orf159_uc001xyx.2_Intron|C14orf159_uc001xyw.2_Missense_Mutation_p.G484S|C14orf159_uc001xzc.2_Missense_Mutation_p.G479S|C14orf159_uc001xza.2_Missense_Mutation_p.G484S|C14orf159_uc001xyv.2_Intron|C14orf159_uc001xyz.2_Missense_Mutation_p.G355S|C14orf159_uc001xze.2_Missense_Mutation_p.G479S	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	479						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTCAGGAGTCGGTGATGGAGG	0.597													A	91671055	G	A	91671055	3	1	272	1	0	0	0	0	1	0	0	0	1755	1116	39	1	1488	1	C14orf159	14	91671055	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	423838	91671055	15678485	1452	136563											
SMEK1	55671	broad.mit.edu	37	chr14	91948517	91948517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctgagtgatgtccacGgaagggtcctttccttgaac	12	10	0	3	rs138032388		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:91948517G>A	uc001xzn.2	-	4	1140	c.318C>T	c.(316-318)TCC>TCT	p.S106S	SMEK1_uc001xzm.2_Silent_p.S106S|SMEK1_uc001xzo.2_Silent_p.S106S|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_5'UTR	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	106						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGATGTCCACGGAAGGGTCCT	0.403													A	91948517	G	A	91948517	2	1	272	1	0	0	0	0	0	0	0	1	14793	1103	39	1		1	SMEK1	14	91948517	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	277462	91948517	15401023	1453	136564											
TRIP11	9321	broad.mit.edu	37	chr14	92472698	92472698	+	Frame_Shift_Del	DEL	T	T	-													cttcaagttgatgaactctcTttttttcatcatttagatct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:92472697_92472697CT>C	uc001xzy.3	-	10	1997	c.1623_1623AG>G	c.(1621-1623)aagfs	p.K541fs	TRIP11_uc010auf.2_Frame_Shift_Del_p.K277fs	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	541					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|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)		GATGAACTCTCTTTTTTTCAT	0.308			T	PDGFRB	AML								-	92472698	T	-	92472698	7	5	272	1	0	1	0	1	0	0	0	0	16552	1609	56	0	4361	0	TRIP11	14	92472698	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	524181	92472698	14876842	1454	136565											
CPSF2	53981	broad.mit.edu	37	chr14	92620755	92620756	+	Frame_Shift_Del	DEL	AG	AG	-													cttgaagaatacttggaaaaAgagaaactaaagaaagaagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:92620755_92620756delAG	uc001yah.1	+	10	1431_1432	c.1194_1195delAG	c.(1192-1197)AAAGAGfs	p.K398fs		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	398_399					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			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACTTGGAAAAAGAGAAACTAAA	0.302													-	92620756	AG	-	92620755	7	5	272	1	0	1	0	1	0	0	0	0	3825	69	3	0	1224	0	CPSF2	14	92620755	Frame_Shift_Del	DEL	AG	TCGA-HU-A4GQ-01A-11D-A25D-08	148057	92620755	14728785	1455	136566											
SLC24A4	123041	broad.mit.edu	37	chr14	92959869	92959869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaccggaagctgggtgTctacgtgctggttctctacg	14	10	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:92959869T>C	uc001yak.2	+	17	1739	c.1715T>C	c.(1714-1716)GTC>GCC	p.V572A	SLC24A4_uc001yai.2_Missense_Mutation_p.V525A|SLC24A4_uc010twm.1_Missense_Mutation_p.V570A|SLC24A4_uc001yaj.2_Missense_Mutation_p.V553A|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.V345A|SLC24A4_uc001yan.2_Missense_Mutation_p.V283A	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	589	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		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)		AAGCTGGGTGTCTACGTGCTG	0.517													C	92959869	T	C	92959869	3	2	272	1	0	0	0	0	1	0	0	0	14468	1667	58	3	1781	3	SLC24A4	14	92959869	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	339114	92959869	14389671	1456	136567											
COX8C	341947	broad.mit.edu	37	chr14	93813694	93813694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgcagcccgctccccGcttcgcccactcggggcccc	11	23	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:93813694G>A	uc001ybt.1	+	1	158	c.80G>A	c.(79-81)CGC>CAC	p.R27H	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	27						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CCCGCTCCCCGCTTCGCCCAC	0.741													A	93813694	G	A	93813694	3	1	272	1	0	0	0	0	1	0	0	0	3786	1087	38	1	82	1	COX8C	14	93813694	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	853825	93813694	13535846	1457	136568											
ASB2	51676	broad.mit.edu	37	chr14	94413727	94413727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggaggcgatgtgcagCgggagcaagccgtccttgtt	15	9	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:94413727C>T	uc001ycc.1	-	5	1365	c.876G>A	c.(874-876)CCG>CCA	p.P292P	ASB2_uc001ycd.2_Silent_p.P340P|ASB2_uc001yce.1_Silent_p.P238P	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	292	ANK 8.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGATGTGCAGCGGGAGCAAGC	0.622													T	94413727	C	T	94413727	2	4	272	1	0	0	0	0	0	0	0	1	1023	755	27	1		1	ASB2	14	94413727	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	600033	94413727	12935813	1458	136569											
IFI27	3429	broad.mit.edu	37	chr14	94578050	94578052	+	In_Frame_Del	DEL	TCA	TCA	-													tggaggcctctgctctcaccTcatcagcagtgaccagtgtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:94578049_94578051CTCA>C	uc021sba.1	+	1	144_146	c.21_23CTCA>C	c.(19-24)acctca>acCa	p.S9del	IFI27_uc001ycm.1_Non-coding_Transcript|IFI27_uc001ycn.1_Intron	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	9					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		p.S8L(2)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CTGCTCTCACCTCATCAGCAGTG	0.601													-	94578052	TCA	-	94578050	7	5	272	1	0	1	0	1	0	0	0	0	7512	1551	54	0	24	0	IFI27	14	94578050	In_Frame_Del	DEL	TCA	TCGA-HU-A4GQ-01A-11D-A25D-08	164323	94578050	12771490	1459	136570											
C14orf49	161176	broad.mit.edu	37	chr14	95934206	95934206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagccgggccaggatcccGggcttctggtccccagggca	14	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:95934206G>A	uc001yei.3	-	2	258	c.243C>T	c.(241-243)CCC>CCT	p.P81P	C14orf49_uc010avi.2_Silent_p.P81P|C14orf49_uc001yej.1_Silent_p.P81P	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	81	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCAGGATCCCGGGCTTCTGGT	0.612													A	95934206	G	A	95934206	2	1	272	1	0	0	0	0	0	0	0	1	1776	1103	39	1		1	C14orf49	14	95934206	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1356156	95934206	11415334	1460	136571											
BCL11B	64919	broad.mit.edu	37	chr14	99641430	99641430	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgccttggccgcgccGccccccgcgcccgggacccc	13	24	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:99641430G>C	uc001yga.2	-	4	2010	c.1743C>G	c.(1741-1743)GGC>GGG	p.G581G	BCL11B_uc001ygb.2_Silent_p.G510G	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	581	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		Tggccgcgccgccccccgcgc	0.562			T	TLX3	T-ALL								C	99641430	G	C	99641430	2	2	272	1	0	0	0	0	0	0	0	1	1364	1074	38	5		5	BCL11B	14	99641430	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3707224	99641430	7708110	1461	136572											
EML1	2009	broad.mit.edu	37	chr14	100406391	100406391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatttcctctgtgaagacaGccacctcatctccacgggcg	9	15	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:100406391G>A	uc001ygs.2	+	22	2459	c.2390G>A	c.(2389-2391)AGC>AAC	p.S797N	EML1_uc010tww.1_Missense_Mutation_p.S785N|EML1_uc001ygr.2_Missense_Mutation_p.S816N	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	797	WD 11.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGTGAAGACAGCCACCTCATC	0.567													A	100406391	G	A	100406391	3	1	272	1	0	0	0	0	1	0	0	0	5096	971	34	2	2537	2	EML1	14	100406391	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	764961	100406391	6943149	1462	136573											
BEGAIN	57596	broad.mit.edu	37	chr14	101004539	101004539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtccccgtcccccccctCgctgggtgcatagccgggca	11	20	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:101004539C>T	uc010txa.1	-	6	1695	c.1549G>A	c.(1549-1551)GAG>AAG	p.E517K	BEGAIN_uc001yhp.2_Missense_Mutation_p.E453K|BEGAIN_uc001yhq.2_Missense_Mutation_p.E517K	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	517						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				TCCCCCCCCTCGCTGGGTGCA	0.731													T	101004539	C	T	101004539	3	4	272	1	0	0	0	0	1	0	0	0	1397	893	31	1	236	1	BEGAIN	14	101004539	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	598148	101004539	6345001	1463	136574											
BEGAIN	57596	broad.mit.edu	37	chr14	101011342	101011342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggcggcctcaccatgcGgtacagcttgtcctccagct	12	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:101011342G>A	uc010txa.1	-	3	384	c.238C>T	c.(238-240)CGC>TGC	p.R80C	BEGAIN_uc001yhp.2_Missense_Mutation_p.R16C|BEGAIN_uc001yhq.2_Missense_Mutation_p.R80C	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	80						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CTCACCATGCGGTACAGCTTG	0.657													A	101011342	G	A	101011342	3	1	272	1	0	0	0	0	1	0	0	0	1397	1116	39	1	1559	1	BEGAIN	14	101011342	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6803	101011342	6338198	1464	136575											
DYNC1H1	1778	broad.mit.edu	37	chr14	102471540	102471540	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gactctgtcctcatggagcaGcccccactccgaaggcggaa	11	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102471540G>C	uc001yks.2	+	26	5564	c.5400G>C	c.(5398-5400)CAG>CAC	p.Q1800H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1800	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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCATGGAGCAGCCCCCACTCC	0.547													C	102471540	G	C	102471540	3	2	272	1	0	0	0	0	1	0	0	0	4841	962	34	5	5502	5	DYNC1H1	14	102471540	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1460198	102471540	4878000	1465	136576											
DYNC1H1	1778	broad.mit.edu	37	chr14	102494389	102494389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgtgcctgattacatgCcagttgtgtatgataagctg	10	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102494389C>T	uc001yks.2	+	48	9543	c.9379C>T	c.(9379-9381)CCA>TCA	p.P3127S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3127	AAA 4 (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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGATTACATGCCAGTTGTGTA	0.483													T	102494389	C	T	102494389	3	4	272	1	0	0	0	0	1	0	0	0	4841	739	26	2	9569	2	DYNC1H1	14	102494389	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	22849	102494389	4855151	1466	136577											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505836	102505836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccgaacctgaagggtgtcAccgaccacacacagcgcctg	10	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102505836A>G	uc001yks.2	+	61	11712	c.11548A>G	c.(11548-11550)ACC>GCC	p.T3850A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3850					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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GAAGGGTGTCACCGACCACAC	0.532													G	102505836	A	G	102505836	3	3	272	1	0	0	0	0	1	0	0	0	4841	159	6	3	11790	3	DYNC1H1	14	102505836	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	11447	102505836	4843704	1467	136578											
WDR20	91833	broad.mit.edu	37	chr14	102675570	102675570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtccaggctctccaaaCggaactctacagacagccgc	8	16	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102675570C>T	uc001ykz.2	+	3	1112	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	WDR20_uc001yky.1_Missense_Mutation_p.R98W|WDR20_uc001yla.2_Missense_Mutation_p.R231W|WDR20_uc001ylb.2_Missense_Mutation_p.R294W|WDR20_uc010txu.1_Missense_Mutation_p.R386W|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.R355W|WDR20_uc001yle.2_Missense_Mutation_p.R294W|WDR20_uc001ylf.2_Missense_Mutation_p.R367W	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	355	WD 4.										0						GCTCTCCAAACGGAACTCTAC	0.507											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	102675570	C	T	102675570	3	4	272	1	0	0	0	0	1	0	0	0	17277	527	19	1	1090	1	WDR20	14	102675570	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	169734	102675570	4673970	1468	136579											
CDC42BPB	9578	broad.mit.edu	37	chr14	103432702	103432702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcttgaaggtaaccccGggcatctttctcgtcactga	10	11	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:103432702G>A	uc001ymi.1	-	18	2726	c.2494C>T	c.(2494-2496)CGG>TGG	p.R832W	CDC42BPB_uc001ymj.1_5'Flank	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	832					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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGGTAACCCCGGGCATCTTTC	0.517													A	103432702	G	A	103432702	3	1	272	1	0	0	0	0	1	0	0	0	3073	1115	39	1	2721	1	CDC42BPB	14	103432702	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	757132	103432702	3916838	1469	136580											
ASPG	374569	broad.mit.edu	37	chr14	104575630	104575630	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtccacccaggagctggagGaagcagggacggagctgtgc	17	10	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:104575630G>T	uc001yoq.1	+	13	1558	c.1498G>T	c.(1498-1500)GAA>TAA	p.E500*	ASPG_uc001yop.1_Nonsense_Mutation_p.E500*|ASPG_uc001yor.1_Nonsense_Mutation_p.E500*	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	500					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						GGAGCTGGAGGAAGCAGGGAC	0.632													T	104575630	G	T	104575630	4	4	272	1	0	0	0	0	0	1	0	0	1052	1175	41	5	1548	5	ASPG	14	104575630	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1142928	104575630	2773910	1470	136581											
KIF26A	26153	broad.mit.edu	37	chr14	104641944	104641944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcccggaaaaggctgCagtgagtggaggcaggaggc	19	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:104641944C>T	uc001yos.3	+	12	2819	c.2819C>T	c.(2818-2820)GCA>GTA	p.A940V		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	940					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GAAAAGGCTGCAGTGAGTGGA	0.667													T	104641944	C	T	104641944	3	4	272	1	0	0	0	0	1	0	0	0	8294	710	25	2	2865	2	KIF26A	14	104641944	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	66314	104641944	2707596	1471	136582											
ADSSL1	122622	broad.mit.edu	37	chr14	105207035	105207035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcagattttgatgagTtttcctccaggtacctgagc	9	10	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:105207035T>C	uc001ypd.2	+	6	648	c.574T>C	c.(574-576)TTT>CTT	p.F192L	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.F235L|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	192					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		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)	TTTTGATGAGTTTTCCTCCAG	0.592													C	105207035	T	C	105207035	3	2	272	1	0	0	0	0	1	0	0	0	348	1725	60	3	921	3	ADSSL1	14	105207035	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	565091	105207035	2142505	1472	136583											
NIPA2	81614	broad.mit.edu	37	chr15	23021239	23021240	+	Frame_Shift_Ins	INS	-	-	T													ggcaagtcgaaggaggccctINStttttttcaaaatgaaactt					rs145147241	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:23021238_23021239C>CT	uc001yvb.3	-	5	955_956	c.98_99G>AG	c.(97-99)aagfs	p.K33fs	NIPA2_uc001yux.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc001yuy.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc001yuz.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc010ayb.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc001yva.3_Frame_Shift_Ins_p.K33fs	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	33						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAAGGAGGCCCTTTTTTTTCAA	0.45													T	23021240	-	T	23021239	7	5	272	1	0	1	1	0	0	0	0	0	10423	1609	56	0	1004	0	NIPA2	15	23021239	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08		23021239	79510153	1473	136584											
MAGEL2	54551	broad.mit.edu	37	chr15	23889179	23889179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggggccgtgggcactGtcaccggtgtcaggttcatc	16	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:23889179G>A	uc001ywj.3	-	1	1997	c.1902C>T	c.(1900-1902)GAC>GAT	p.D634D		NM_019066	NP_061939			MAGE-like protein 2												0		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)		CGTGGGCACTGTCACCGGTGT	0.587													A	23889179	G	A	23889179	2	1	272	1	0	0	0	0	0	0	0	1	9189	1368	48	4		4	MAGEL2	15	23889179	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	867940	23889179	78642213	1474	136585											
TRPM1	4308	broad.mit.edu	37	chr15	31320576	31320576	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaccagcaggatgttggcGaccagtagatagcacgccat	11	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:31320576G>A	uc001zfm.2	-	24	3314	c.3186C>T	c.(3184-3186)GTC>GTT	p.V1062V	TRPM1_uc010azy.2_Silent_p.V969V|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1062	Helical; (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		GGATGTTGGCGACCAGTAGAT	0.507													A	31320576	G	A	31320576	2	1	272	1	0	0	0	0	0	0	0	1	16582	1045	37	1		1	TRPM1	15	31320576	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7431397	31320576	71210816	1475	136586											
RYR3	6263	broad.mit.edu	37	chr15	33893742	33893742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagacacgactgattaaCgatgtaaccaggtaaggcca	10	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:33893742C>T	uc001zhi.2	+	17	1981	c.1911C>T	c.(1909-1911)AAC>AAT	p.N637N	RYR3_uc010bar.2_Silent_p.N637N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	637	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GACTGATTAACGATGTAACCA	0.507													T	33893742	C	T	33893742	2	4	272	1	0	0	0	0	0	0	0	1	13770	535	19	1		1	RYR3	15	33893742	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2573166	33893742	68637650	1476	136587											
C15orf29	79768	broad.mit.edu	37	chr15	34444996	34444996	+	Frame_Shift_Del	DEL	A	A	-													agagaaaagacttacctcagAaaaaaacccactatattttg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:34444995_34444995GA>G	uc001zhp.3	-	3	594	c.434_434TC>C	c.(433-435)tctfs	p.S145fs	C15orf29_uc010ubz.2_Frame_Shift_Del_p.S49fs|C15orf29_uc010uca.1_Frame_Shift_Del_p.S145fs	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	145						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		ACTTACCTCAGAAAAAAACCC	0.328													-	34444996	A	-	34444996	7	5	272	1	0	1	0	1	0	0	0	0	1789	246	9	0	509	0	C15orf29	15	34444996	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	551254	34444996	68086396	1477	136588											
C15orf55	256646	broad.mit.edu	37	chr15	34640529	34640529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcactccctgtggaggcCttgagggtcctgcacctcca	13	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:34640529C>A	uc001zif.2	+	2	531	c.376C>A	c.(376-378)CTT>ATT	p.L126I	C15orf55_uc010ucc.1_Missense_Mutation_p.L154I|C15orf55_uc010ucd.1_Missense_Mutation_p.L144I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	126	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CTGTGGAGGCCTTGAGGGTCC	0.562			T	BRD3|BRD4	lethal midline carcinoma								A	34640529	C	A	34640529	3	1	272	1	0	0	0	0	1	0	0	0	1803	681	24	5	382	5	C15orf55	15	34640529	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	195533	34640529	67890863	1478	136589											
AQR	9716	broad.mit.edu	37	chr15	35236513	35236514	+	Frame_Shift_Ins	INS	-	-	A													tattgaagcaatgatcaagaINSaaaagtagtaagactgtctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:35236512_35236513G>GA	uc001ziv.3	-	5	628_629	c.447_448C>TC	c.(445-450)tttcttfs	p.F149fs		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	149						catalytic step 2 spliceosome	RNA binding	p.L150I(2)		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)		CAATGATCAAGAAAAAGTAGTA	0.332													A	35236514	-	A	35236513	7	5	272	1	0	1	1	0	0	0	0	0	835	243	9	0	4130	0	AQR	15	35236513	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	595984	35236513	67294879	1479	136590											
DNAJC17	55192	broad.mit.edu	37	chr15	41060175	41060175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcttcctgctgcatcCgtgcgatcagctgttgccgc	11	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:41060175C>T	uc001zms.1	-	11	889	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	C15orf62_uc010bby.2_5'Flank	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	293					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		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)		CTGCTGCATCCGTGCGATCAG	0.592													T	41060175	C	T	41060175	3	4	272	1	0	0	0	0	1	0	0	0	4636	652	23	1	40	1	DNAJC17	15	41060175	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5823662	41060175	61471217	1480	136591											
RPAP1	26015	broad.mit.edu	37	chr15	41822179	41822179	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgggcaatgccagagcTggggagacaaagcatgatag	15	8	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:41822179T>C	uc001zod.2	-	8	1068	c.944_splice	c.e8-1	p.A315_splice		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1							nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGCCAGAGCTGGGGAGACAA	0.582													C	41822179	T	C	41822179	5	2	272	1	0	0	0	0	0	0	1	0	13541	1594	55	3	3311	3	RPAP1	15	41822179	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	762004	41822179	60709213	1481	136592											
TYRO3	7301	broad.mit.edu	37	chr15	41859622	41859622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcccccctttacctGcctgctccgggacctggtgc	10	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:41859622G>A	uc001zof.1	+	7	1072	c.848G>A	c.(847-849)TGC>TAC	p.C283Y		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	283	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		CCCTTTACCTGCCTGCTCCGG	0.602													A	41859622	G	A	41859622	3	1	272	1	0	0	0	0	1	0	0	0	16811	1319	46	2	874	2	TYRO3	15	41859622	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	37443	41859622	60671770	1482	136593											
MGA	23269	broad.mit.edu	37	chr15	42003216	42003216	+	Frame_Shift_Del	DEL	T	T	-													taaatcatcttataaatccaTtttaccataccctgtttcac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:42003215_42003215AT>A	uc010ucy.2	+	7	2933	c.2752_2752AT>A	c.(2752-2754)attfs	p.I918fs	MGA_uc001zog.1_Frame_Shift_Del_p.I918fs|MGA_uc010ucz.2_Frame_Shift_Del_p.I918fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	918						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)		TTATAAATCCATTTTACCATA	0.403													-	42003216	T	-	42003216	7	5	272	1	0	1	0	1	0	0	0	0	9540	1493	52	0	2779	0	MGA	15	42003216	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	143594	42003216	60528176	1483	136594											
CDAN1	146059	broad.mit.edu	37	chr15	43023873	43023873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacagcctgggaaggtggGgggtgggcagggccccccac	19	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:43023873G>T	uc001zql.2	-	11	1801	c.1684C>A	c.(1684-1686)CCC>ACC	p.P562T	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	562						integral to membrane	protein binding			ovary(2)	2		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)		GGGAAGGTGGGGGGTGGGCAG	0.602													T	43023873	G	T	43023873	3	4	272	1	0	0	0	0	1	0	0	0	3054	1232	43	5	2071	5	CDAN1	15	43023873	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1020657	43023873	59507519	1484	136595											
ZSCAN29	146050	broad.mit.edu	37	chr15	43661121	43661121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgaatctactcctcacCgctcctttgaaaaggtttga	6	11	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:43661121C>T	uc001zrk.1	-	2	670	c.523G>A	c.(523-525)GGA>AGA	p.G175R	ZSCAN29_uc001zrj.1_Missense_Mutation_p.G55R|ZSCAN29_uc010bdf.1_Missense_Mutation_p.G174R|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.G174S|ZSCAN29_uc001zrm.2_Missense_Mutation_p.G174R|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	175					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		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)		TACTCCTCACCGCTCCTTTGA	0.502													T	43661121	C	T	43661121	3	4	272	1	0	0	0	0	1	0	0	0	18233	666	23	1	2051	1	ZSCAN29	15	43661121	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	637248	43661121	58870271	1485	136596											
DUOX1	53905	broad.mit.edu	37	chr15	45444070	45444070	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaaggcttcctgtctcccAgggtaacgtcattccagccc	9	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:45444070A>G	uc001zus.1	+	25	3361	c.3015_splice	c.e25-2	p.K1005_splice	DUOX1_uc001zut.1_Splice_Site_p.K1005_splice|DUOX1_uc010bee.1_Splice_Site_p.K385_splice|DUOX1_uc001zuu.2_Splice_Site_p.K147_splice	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor						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			ovary(5)|skin(2)|breast(1)	8		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)		CCTGTCTCCCAGGGTAACGTC	0.597													G	45444070	A	G	45444070	5	3	272	1	0	0	0	0	0	0	1	0	4800	202	7	3	3103	3	DUOX1	15	45444070	Splice_Site	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1782949	45444070	57087322	1486	136597											
SPATA5L1	79029	broad.mit.edu	37	chr15	45710841	45710841	+	Frame_Shift_Del	DEL	T	T	-													aacctcgcagcagaaacctgTtttttttctggagctgatct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:45710840_45710840GT>G	uc001zve.3	+	6	2163	c.2054_2054GT>G	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						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)		GCAGAAACCTGTTTTTTTTCT	0.363													-	45710841	T	-	45710841	7	5	272	1	0	1	0	1	0	0	0	0	15011	1731	60	0	2081	0	SPATA5L1	15	45710841	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	266771	45710841	56820551	1487	136598											
MYEF2	50804	broad.mit.edu	37	chr15	48441562	48441562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgttcatgctacccattCcaccacctggattttcaaga	5	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48441562C>T	uc001zwi.3	-	15	1509	c.1385G>A	c.(1384-1386)GGA>GAA	p.G462E	MYEF2_uc001zwg.3_5'UTR|MYEF2_uc001zwh.3_Missense_Mutation_p.G50E|MYEF2_uc001zwj.3_Missense_Mutation_p.G438E	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	462	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		GCTACCCATTCCACCACCTGG	0.383													T	48441562	C	T	48441562	3	4	272	1	0	0	0	0	1	0	0	0	10024	855	30	4	429	4	MYEF2	15	48441562	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2730721	48441562	54089830	1488	136599											
SLC12A1	6557	broad.mit.edu	37	chr15	48537040	48537040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcagcatgtgggttggGctatgacttctcaagatgtc	12	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48537040G>A	uc001zwn.3	+	11	1607	c.1391G>A	c.(1390-1392)GGC>GAC	p.G464D	SLC12A1_uc010uew.1_Missense_Mutation_p.G270D|SLC12A1_uc010bem.2_Missense_Mutation_p.G464D|SLC12A1_uc001zwq.3_Missense_Mutation_p.G235D|SLC12A1_uc001zwr.3_Missense_Mutation_p.G191D	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	464					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		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)	TGTGGGTTGGGCTATGACTTC	0.458													A	48537040	G	A	48537040	3	1	272	1	0	0	0	0	1	0	0	0	14382	1203	42	2	1529	2	SLC12A1	15	48537040	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	95478	48537040	53994352	1489	136600											
FBN1	2200	broad.mit.edu	37	chr15	48802279	48802279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgtaacatgaaagcccGcattacacacgcaatgaaaa	7	11	0	2	rs141551765	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48802279G>A	uc001zwx.1	-	14	2004	c.1676C>T	c.(1675-1677)GCG>GTG	p.A559V		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	559	EGF-like 8; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAAAGCCCGCATTACACAC	0.408													A	48802279	G	A	48802279	3	1	272	1	0	0	0	0	1	0	0	0	5702	1087	38	1	7151	1	FBN1	15	48802279	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	265239	48802279	53729113	1490	136601											
FBN1	2200	broad.mit.edu	37	chr15	48936963	48936963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcagacgccctcgacGcatgatgccgagccgccacc	10	19	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48936963G>A	uc001zwx.1	-	2	332	c.4C>T	c.(4-6)CGT>TGT	p.R2C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2					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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGCCCTCGACGCATGATGCCG	0.706													A	48936963	G	A	48936963	3	1	272	1	0	0	0	0	1	0	0	0	5702	1087	38	1	8871	1	FBN1	15	48936963	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	134684	48936963	53594429	1491	136602											
CYP19A1	1588	broad.mit.edu	37	chr15	51529065	51529066	+	Frame_Shift_Del	DEL	AT	AT	-													aacagactcacttgctgataAtgagtgtttcctctccagag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:51529064_51529065AAT>A	uc001zyz.4	-	3	538_539	c.287_288ATT>T	c.(286-288)attfs	p.I96fs	CYP19A1_uc001zza.4_Frame_Shift_Del_p.I96fs|CYP19A1_uc001zzb.2_Frame_Shift_Del_p.I96fs|CYP19A1_uc001zzd.3_Frame_Shift_Del_p.I96fs|CYP19A1_uc010bey.1_Frame_Shift_Del_p.I96fs	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	96					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)	ACTTGCTGATAATGAGTGTTTC	0.421													-	51529066	AT	-	51529065	7	5	272	1	0	1	0	1	0	0	0	0	4148	101	4	0	1256	0	CYP19A1	15	51529065	Frame_Shift_Del	DEL	AT	TCGA-HU-A4GQ-01A-11D-A25D-08	2592102	51529065	51002327	1492	136603											
DMXL2	23312	broad.mit.edu	37	chr15	51857323	51857324	+	Frame_Shift_Ins	INS	-	-	A													gttgtatgtcacagaactcaINSaaaaaaactgcccagtttta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:51857322_51857323C>CA	uc010ufy.2	-	3	551_552	c.326_327G>TG	c.(325-327)ttgfs	p.L109fs	DMXL2_uc002abf.3_Frame_Shift_Ins_p.L109fs|DMXL2_uc010bfa.3_Frame_Shift_Ins_p.L109fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	109						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)		TCACAGAACTCAAAAAAAACTG	0.267													A	51857324	-	A	51857323	7	5	272	1	0	1	1	0	0	0	0	0	4595	131	5	0	8947	0	DMXL2	15	51857323	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	328258	51857323	50674069	1493	136604											
MYO5C	55930	broad.mit.edu	37	chr15	52564923	52564923	+	Splice_Site	DEL	A	A	-													cttggcatttccaacggcctAaaaaaaataagactctattg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:52564922_52564922TA>T	uc010bff.3	-	6	769	c.607_splice	c.e6-1	p.A203_splice	MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	203	Myosin head-like.					myosin complex	ATP binding|actin 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)		TCCAACGGCCTAAAAAAAATA	0.363													-	52564923	A	-	52564923	8	5	272	1	0	1	0	1	0	0	1	0	10080	377	13	0		0	MYO5C	15	52564923	Splice_Site	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	707600	52564923	49966469	1494	136605											
WDR72	256764	broad.mit.edu	37	chr15	54005035	54005035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaaatcgaattgtctgGcagttcaaggactcaagaaa	10	7	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:54005035G>A	uc002acj.2	-	7	687	c.645C>T	c.(643-645)TGC>TGT	p.C215C	WDR72_uc010bfi.1_Silent_p.C215C	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	215										lung(1)|skin(1)	2				all cancers(107;0.0511)		GAATTGTCTGGCAGTTCAAGG	0.323													A	54005035	G	A	54005035	2	1	272	1	0	0	0	0	0	0	0	1	17319	1195	42	2		2	WDR72	15	54005035	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1440112	54005035	48526357	1495	136606											
UNC13C	440279	broad.mit.edu	37	chr15	54586097	54586097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatttattttcagtgagTgtcataactccacagatcga	6	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:54586097T>C	uc002ack.2	+	9	3823	c.3823T>C	c.(3823-3825)TGT>CGT	p.C1275R	UNC13C_uc002acl.2_Missense_Mutation_p.C105R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1275	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCAGTGAGTGTCATAACTC	0.318													C	54586097	T	C	54586097	3	2	272	1	0	0	0	0	1	0	0	0	16983	1696	59	3	3857	3	UNC13C	15	54586097	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	581062	54586097	47945295	1496	136607											
PIGB	9488	broad.mit.edu	37	chr15	55621922	55621923	+	Splice_Site	INS	-	-	T													gctctgtactttttcttagtINSttttttgccagttgtgctcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:55621921_55621922G>GT	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342													T	55621923	-	T	55621922	8	5	272	1	0	1	1	0	0	0	1	0	11885	1739	60	0	541	0	PIGB	15	55621922	Splice_Site	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1035825	55621922	46909470	1497	136608											
TCF12	6938	broad.mit.edu	37	chr15	57545514	57545514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgcaatccatgtgctgCggaaccatgctgtgggacct	12	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:57545514C>T	uc002aec.2	+	15	1527	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	TCF12_uc010ugm.1_Missense_Mutation_p.R467W|TCF12_uc010ugn.1_Missense_Mutation_p.R435W|TCF12_uc002aea.2_Missense_Mutation_p.R439W|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.R439W|TCF12_uc002aed.2_Missense_Mutation_p.R415W|TCF12_uc002aee.2_Missense_Mutation_p.R245W|TCF12_uc010bft.2_Missense_Mutation_p.R269W|TCF12_uc010ugo.1_Missense_Mutation_p.R179W|TCF12_uc010ugp.1_Missense_Mutation_p.R73W|TCF12_uc010ugq.1_Missense_Mutation_p.R49W|TCF12_uc010ugr.1_Missense_Mutation_p.R28W	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	415					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			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCATGTGCTGCGGAACCATGC	0.453			T	TEC	extraskeletal myxoid chondrosarcoma								T	57545514	C	T	57545514	3	4	272	1	0	0	0	0	1	0	0	0	15684	759	27	1	1446	1	TCF12	15	57545514	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1923592	57545514	44985878	1498	136609											
CGNL1	84952	broad.mit.edu	37	chr15	57820963	57820963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggagtatgagctggaaGccaagagtcacctcaaagat	11	9	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:57820963G>A	uc002aeg.2	+	13	3227	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	CGNL1_uc010bfw.2_Missense_Mutation_p.A1051T	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1051	Potential.					myosin complex|tight junction	motor activity	p.A1051A(1)		skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAGCTGGAAGCCAAGAGTCA	0.572													A	57820963	G	A	57820963	3	1	272	1	0	0	0	0	1	0	0	0	3304	971	34	2	3197	2	CGNL1	15	57820963	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	275449	57820963	44710429	1499	136610											
RORA	6095	broad.mit.edu	37	chr15	60792196	60792196	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttttcttgcagccaTgagcgatctaagcataaaaa	6	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:60792196T>C	uc002agv.2	-	11	1557	c.1401A>G	c.(1399-1401)TCA>TCG	p.S467S	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.S379S|RORA_uc002agw.2_Silent_p.S459S|RORA_uc002agx.2_Silent_p.S434S	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	467	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			large_intestine(1)|ovary(1)	2						CTTGCAGCCATGAGCGATCTA	0.368													C	60792196	T	C	60792196	2	2	272	1	0	0	0	0	0	0	0	1	13528	1451	51	3		3	RORA	15	60792196	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2971233	60792196	41739196	1500	136611											
VPS13C	54832	broad.mit.edu	37	chr15	62257063	62257063	+	Splice_Site	DEL	A	A	-													taaagatgaaaaggccacctAaaaatgttttaaagagaaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:62257062_62257062TA>T	uc002agz.3	-	31	3143	c.3052_splice	c.e31-1	p.V1018_splice	VPS13C_uc002aha.3_Splice_Site_p.V975_splice|VPS13C_uc002ahb.2_Splice_Site_p.V1018_splice|VPS13C_uc002ahc.2_Splice_Site_p.V975_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1018					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						AAAGGCCACCTAAAAATGTTT	0.373													-	62257063	A	-	62257063	8	5	272	1	0	1	0	1	0	0	1	0	17188	377	13	0		0	VPS13C	15	62257063	Splice_Site	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1464867	62257063	40274329	1501	136612											
VPS13C	54832	broad.mit.edu	37	chr15	62304323	62304323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgtattgataatttgggGgtatatttccacttgtaaga	9	4	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:62304323G>T	uc002agz.2	-	12	940	c.866C>A	c.(865-867)CCC>CAC	p.P289H	VPS13C_uc002aha.2_Missense_Mutation_p.P246H|VPS13C_uc002ahb.1_Missense_Mutation_p.P289H|VPS13C_uc002ahc.1_Missense_Mutation_p.P246H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	289					protein localization					ovary(2)	2						ATAATTTGGGGGTATATTTCC	0.249													T	62304323	G	T	62304323	3	4	272	1	0	0	0	0	1	0	0	0	17188	1232	43	5	10719	5	VPS13C	15	62304323	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	47260	62304323	40227069	1502	136613											
TLN2	83660	broad.mit.edu	37	chr15	63069085	63069085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgggggcatggtggaCgccattgcagaagccatgag	17	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:63069085C>T	uc002alb.3	+	40	5490	c.5490C>T	c.(5488-5490)GAC>GAT	p.D1830D	TLN2_uc002alc.3_Silent_p.D223D|TLN2_uc002ald.2_Silent_p.D223D	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1830					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCATGGTGGACGCCATTGCAG	0.582													T	63069085	C	T	63069085	2	4	272	1	0	0	0	0	0	0	0	1	15945	535	19	1		1	TLN2	15	63069085	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	764762	63069085	39462307	1503	136614											
FBXL22	283807	broad.mit.edu	37	chr15	63889923	63889925	+	In_Frame_Del	DEL	TCC	TCC	-													cgagagcctggtcaatgattTcctcctccgggtgtgcgaca					rs149590841		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:63889922_63889924TTCC>T	uc002amn.3	+	0	371_373	c.313_315TTCC>T	c.(313-315)ttc>T	p.F105del	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_In_Frame_Del_p.F105del	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	105										lung(4)	4						GGTCAATGATTTCCTCCTCCGGG	0.616													-	63889925	TCC	-	63889923	7	5	272	1	0	1	0	1	0	0	0	0	5719	1783	62	0	316	0	FBXL22	15	63889923	In_Frame_Del	DEL	TCC	TCGA-HU-A4GQ-01A-11D-A25D-08	820838	63889923	38641469	1504	136615											
ZNF609	23060	broad.mit.edu	37	chr15	64973051	64973051	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacagtacaacttaccCtatgcagcaggtaagcctgt	8	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:64973051C>A	uc002ann.2	+	7	4152	c.4152C>A	c.(4150-4152)CCC>CCA	p.P1384P		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1384						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACAACTTACCCTATGCAGCAG	0.488													A	64973051	C	A	64973051	2	1	272	1	0	0	0	0	0	0	0	1	18032	668	24	5		5	ZNF609	15	64973051	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1083128	64973051	37558341	1505	136616											
PIF1	80119	broad.mit.edu	37	chr15	65108536	65108536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctggtctgaggctgcCtcatcatcatctggggactc	10	13	6	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:65108536C>A	uc002ant.2	-	13	1953	c.1887G>T	c.(1885-1887)GAG>GAT	p.E629D	PIF1_uc002anr.2_Missense_Mutation_p.E177D|PIF1_uc002ans.2_Missense_Mutation_p.E320D|PIF1_uc010uiq.1_Missense_Mutation_p.E629D	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	629	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						CTGAGGCTGCCTCATCATCAT	0.582													A	65108536	C	A	65108536	3	1	272	1	0	0	0	0	1	0	0	0	11883	680	24	5	42	5	PIF1	15	65108536	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	135485	65108536	37422856	1506	136617											
PARP16	54956	broad.mit.edu	37	chr15	65551865	65551865	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatggctggaaaaccaggaGagctggctcgaagccctgct	13	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:65551865G>T	uc002aoo.2	-	6	1103	c.849C>A	c.(847-849)CTC>CTA	p.L283L	PARP16_uc002aop.2_Silent_p.L168L|PARP16_uc002aoq.2_Silent_p.L284L	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	283						integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						AAAACCAGGAGAGCTGGCTCG	0.433													T	65551865	G	T	65551865	2	4	272	1	0	0	0	0	0	0	0	1	11460	929	33	5		5	PARP16	15	65551865	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	443329	65551865	36979527	1507	136618											
IGDCC3	9543	broad.mit.edu	37	chr15	65627706	65627706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggaagatgccaccgTcctcagctcgaagtcctgtg	11	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:65627706T>C	uc002aos.2	-	4	860	c.608A>G	c.(607-609)GAC>GGC	p.D203G		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	203	Extracellular (Potential).|Ig-like C2-type 2.									ovary(3)	3						GATGCCACCGTCCTCAGCTCG	0.582													C	65627706	T	C	65627706	3	2	272	1	0	0	0	0	1	0	0	0	7568	1667	58	3	1880	3	IGDCC3	15	65627706	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	75841	65627706	36903686	1508	136619											
ITGA11	22801	broad.mit.edu	37	chr15	68631954	68631954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccattccagtcatagGcaccgacggctcccagcaga	9	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:68631954G>A	uc002ari.2	-	11	1247	c.1160C>T	c.(1159-1161)GCC>GTC	p.A387V	ITGA11_uc010bib.2_Missense_Mutation_p.A387V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	387	FG-GAP 3.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCAGTCATAGGCACCGACGGC	0.592													A	68631954	G	A	68631954	3	1	272	1	0	0	0	0	1	0	0	0	7874	1203	42	2	2486	2	ITGA11	15	68631954	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3004248	68631954	33899438	1509	136620											
CORO2B	10391	broad.mit.edu	37	chr15	69011527	69011527	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacccaatgacaccaggcacGgagccagcactgaccccgga	10	16	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:69011527G>T	uc002arj.3	+	10	1154	c.1125G>T	c.(1123-1125)ACG>ACT	p.T375T	CORO2B_uc010bic.2_Silent_p.T370T|CORO2B_uc002ark.2_Silent_p.T142T	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	375					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CACCAGGCACGGAGCCAGCAC	0.577													T	69011527	G	T	69011527	2	4	272	1	0	0	0	0	0	0	0	1	3757	1103	39	5		5	CORO2B	15	69011527	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	379573	69011527	33519865	1510	136621											
KIF23	9493	broad.mit.edu	37	chr15	69732651	69732651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgataatctgtaggagcGtagagtggcagccaaacagc	12	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:69732651G>A	uc002asb.2	+	17	2009	c.1892G>A	c.(1891-1893)CGT>CAT	p.R631H	KIF23_uc002asc.2_Missense_Mutation_p.R631H|KIF23_uc010bii.2_Missense_Mutation_p.R521H|KIF23_uc010ukc.1_Missense_Mutation_p.R448H	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	631					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						CTGTAGGAGCGTAGAGTGGCA	0.398													A	69732651	G	A	69732651	3	1	272	1	0	0	0	0	1	0	0	0	8291	1145	40	1	1958	1	KIF23	15	69732651	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	721124	69732651	32798741	1511	136622											
C15orf60	283677	broad.mit.edu	37	chr15	73852107	73852107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagactcttctggcatcGgaggagctgccccatgtcta	11	13	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:73852107G>A	uc002avq.2	+	6	679	c.651G>A	c.(649-651)TCG>TCA	p.S217S	C15orf60_uc010bjb.2_Silent_p.S189S	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	hypothetical protein LOC283677	217										pancreas(1)	1						TTCTGGCATCGGAGGAGCTGC	0.463													A	73852107	G	A	73852107	2	1	272	1	0	0	0	0	0	0	0	1	1808	1103	39	1		1	C15orf60	15	73852107	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4119456	73852107	28679285	1512	136623											
ISLR2	57611	broad.mit.edu	37	chr15	74425173	74425173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccggagccgtgcgcctgCgtggacaagtacgctcacca	13	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:74425173C>T	uc002axd.2	+	4	847	c.78C>T	c.(76-78)TGC>TGT	p.C26C	ISLR2_uc002axe.2_Silent_p.C26C|ISLR2_uc010bjg.2_Silent_p.C26C|ISLR2_uc010bjf.2_Silent_p.C26C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	26	Extracellular (Potential).|LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CGTGCGCCTGCGTGGACAAGT	0.637													T	74425173	C	T	74425173	2	4	272	1	0	0	0	0	0	0	0	1	7859	776	27	1		1	ISLR2	15	74425173	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	573066	74425173	28106219	1513	136624											
CYP11A1	1583	broad.mit.edu	37	chr15	74640344	74640344	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcggacttaaagagaagggCcacatcttcagggtcgatga	12	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:74640344C>G	uc002axt.2	-	2	477	c.322G>C	c.(322-324)GCC>CCC	p.A108P	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.A108P|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Missense_Mutation_p.A108P	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	108					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			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AAGAGAAGGGCCACATCTTCA	0.483													G	74640344	C	G	74640344	3	3	272	1	0	0	0	0	1	0	0	0	4144	739	26	5	1275	5	CYP11A1	15	74640344	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	215171	74640344	27891048	1514	136625											
CLK3	1198	broad.mit.edu	37	chr15	74911579	74911579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcccctgaaccagacccGtacctgagctaccgatggaa	9	16	0	3	rs150664892	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:74911579G>A	uc010uln.1	+	2	947	c.486G>A	c.(484-486)CCG>CCA	p.P162P	CLK3_uc002ayg.3_Silent_p.P14P|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.P162P|CLK3_uc002ayj.3_Silent_p.P14P|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	162						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						AACCAGACCCGTACCTGAGCT	0.592													A	74911579	G	A	74911579	2	1	272	1	0	0	0	0	0	0	0	1	3538	1132	40	1		1	CLK3	15	74911579	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	271235	74911579	27619813	1515	136626											
CPLX3	594855	broad.mit.edu	37	chr15	75120416	75120416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagaggaaggcagagcGggccacactgcggagccact	14	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:75120416G>A	uc002ayu.1	+	2	300	c.206G>A	c.(205-207)CGG>CAG	p.R69Q		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	complexin 3 precursor	69	Potential.					cell junction|synapse	syntaxin binding				0						AAGGCAGAGCGGGCCACACTG	0.622													A	75120416	G	A	75120416	3	1	272	1	0	0	0	0	1	0	0	0	3806	1116	39	1	212	1	CPLX3	15	75120416	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	208837	75120416	27410976	1516	136627											
MPI	4351	broad.mit.edu	37	chr15	75185605	75185607	+	In_Frame_Del	DEL	AGA	AGA	-													ctcccacctgatgaagagtgAgaagaaggtggtggtggaac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:75185605_75185607delAGA	uc002azc.1	+	5	619_621	c.614_616delAGA	c.(613-618)GAGAAG>GAG	p.K207del	MPI_uc010ulv.1_In_Frame_Del_p.K207del|MPI_uc010ulw.1_Intron|MPI_uc002azd.1_In_Frame_Del_p.K207del|MPI_uc010ulx.1_In_Frame_Del_p.K157del|MPI_uc002aze.1_Intron	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	207					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			ovary(2)	2						ATGAAGAGTGAGAAGAAGGTGGT	0.557													-	75185607	AGA	-	75185605	7	5	272	1	0	1	0	1	0	0	0	0	9729	304	11	0	632	0	MPI	15	75185605	In_Frame_Del	DEL	AGA	TCGA-HU-A4GQ-01A-11D-A25D-08	65189	75185605	27345787	1517	136628											
ODF3L1	161753	broad.mit.edu	37	chr15	76017535	76017535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcaccagcttataccCtgcatagccggcactcagag	9	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:76017535C>A	uc002bax.1	+	2	427	c.205C>A	c.(205-207)CTG>ATG	p.L69M		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	69											0						AGCTTATACCCTGCATAGCCG	0.587													A	76017535	C	A	76017535	3	1	272	1	0	0	0	0	1	0	0	0	10831	680	24	5	211	5	ODF3L1	15	76017535	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	831930	76017535	26513857	1518	136629											
C15orf27	123591	broad.mit.edu	37	chr15	76496086	76496086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctaccttgcagacagCggtgtcccagagccagctgt	10	16	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:76496086C>T	uc002bbq.2	+	11	1181	c.1026C>T	c.(1024-1026)AGC>AGT	p.S342S	C15orf27_uc010bkp.2_Silent_p.S158S|C15orf27_uc002bbr.2_Silent_p.S158S|C15orf27_uc002bbs.2_Silent_p.S20S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	342						integral to membrane					0						TTGCAGACAGCGGTGTCCCAG	0.597													T	76496086	C	T	76496086	2	4	272	1	0	0	0	0	0	0	0	1	1788	767	27	1		1	C15orf27	15	76496086	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	478551	76496086	26035306	1519	136630											
TSPAN3	10099	broad.mit.edu	37	chr15	77348183	77348183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaacttctgtgacaaaaAccaagagcaggatgatgaca	8	9	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:77348183A>C	uc002bcj.2	-	3	495	c.278T>G	c.(277-279)GTT>GGT	p.V93G	TSPAN3_uc002bck.2_Intron|TSPAN3_uc010ump.1_Missense_Mutation_p.V29G|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	93	Helical; (Potential).					integral to membrane					0				all cancers(203;1.14e-19)		TGTGACAAAAACCAAGAGCAG	0.294													C	77348183	A	C	77348183	3	2	272	1	0	0	0	0	1	0	0	0	16642	43	2	5	503	5	TSPAN3	15	77348183	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	852097	77348183	25183209	1520	136631											
SGK269	79834	broad.mit.edu	37	chr15	77471616	77471616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaatgcctctgcaaaaGgttacctgcatggtaaggag	13	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:77471616G>T	uc002bcm.2	-	3	2961	c.2653C>A	c.(2653-2655)CTT>ATT	p.L885I	SGK269_uc002bcn.2_Missense_Mutation_p.L885I	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	885					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTCTGCAAAAGGTTACCTGCA	0.557													T	77471616	G	T	77471616	3	4	272	1	0	0	0	0	1	0	0	0	14211	1000	35	5	2603	5	SGK269	15	77471616	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	123433	77471616	25059776	1521	136632											
ACSBG1	23205	broad.mit.edu	37	chr15	78466028	78466028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgttcatgttgaccctccGgatcccctcttcgatggcct	9	16	2	1	rs146939982	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:78466028G>A	uc002bdh.2	-	13	2052	c.1996C>T	c.(1996-1998)CGG>TGG	p.R666W	ACSBG1_uc010umw.1_Missense_Mutation_p.R662W|ACSBG1_uc010umx.1_Missense_Mutation_p.R424W	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	666					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			ovary(1)	1						TTGACCCTCCGGATCCCCTCT	0.582													A	78466028	G	A	78466028	3	1	272	1	0	0	0	0	1	0	0	0	173	1115	39	1	186	1	ACSBG1	15	78466028	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	994412	78466028	24065364	1522	136633											
TMED3	23423	broad.mit.edu	37	chr15	79614413	79614413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggcccaggaccgggccCgagcagaagaccttaatagc	15	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:79614413C>T	uc002beu.2	+	3	612	c.511C>T	c.(511-513)CGA>TGA	p.R171*	TMED3_uc010unj.1_Intron|TMED3_uc002bev.2_RNA	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	171	Lumenal (Potential).				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)|skin(1)	2						GGACCGGGCCCGAGCAGAAGA	0.572													T	79614413	C	T	79614413	4	4	272	1	0	0	0	0	0	1	0	0	16002	644	23	1	521	1	TMED3	15	79614413	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1148385	79614413	22916979	1523	136634											
IL16	3603	broad.mit.edu	37	chr15	81565501	81565502	+	Frame_Shift_Ins	INS	-	-	T													gggatttacgtcaaaaccatINSttttgcagggggagcagcag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:81565500_81565501A>AT	uc021ssh.1	+	4	846_847	c.745_746A>AT	c.(745-747)attfs	p.I249fs	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Frame_Shift_Ins_p.I249fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Ins_p.I291fs|IL16_uc021ssg.1_Frame_Shift_Ins_p.I249fs|IL16_uc002bgg.3_Frame_Shift_Ins_p.I249fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	249	Interaction with GRIN2A.|PDZ 1.				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						CGTCAAAACCATTTTTGCAGGG	0.51													T	81565502	-	T	81565501	7	5	272	1	0	1	1	0	0	0	0	0	7633	1493	52	0	764	0	IL16	15	81565501	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1951088	81565501	20965891	1524	136635											
IL16	3603	broad.mit.edu	37	chr15	81591888	81591888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacatgcctctacagcccAatgccagcctgaatgaagaa	8	14	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:81591888A>G	uc002bgh.3	+	14	2597	c.2221A>G	c.(2221-2223)AAT>GAT	p.N741D	IL16_uc010blq.1_Missense_Mutation_p.N695D|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.N783D|IL16_uc002bgg.2_Missense_Mutation_p.N741D|IL16_uc002bgi.1_Missense_Mutation_p.N131D|IL16_uc002bgj.2_Missense_Mutation_p.N235D|IL16_uc002bgk.2_Missense_Mutation_p.N40D|IL16_uc002bgl.1_Missense_Mutation_p.N40D|IL16_uc010unq.1_Missense_Mutation_p.N40D	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	741					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TCTACAGCCCAATGCCAGCCT	0.522													G	81591888	A	G	81591888	3	3	272	1	0	0	0	0	1	0	0	0	7633	130	5	3	2271	3	IL16	15	81591888	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	26387	81591888	20939504	1525	136636											
MEX3B	84206	broad.mit.edu	37	chr15	82336304	82336304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgctgctggtcccgcCgccgaaataagagtctgtgg	14	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:82336304C>T	uc002bgq.1	-	2	1222	c.907G>A	c.(907-909)GGC>AGC	p.G303S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	303					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CTGGTCCCGCCGCCGAAATAA	0.632													T	82336304	C	T	82336304	3	4	272	1	0	0	0	0	1	0	0	0	9510	652	23	1	806	1	MEX3B	15	82336304	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	744416	82336304	20195088	1526	136637											
BNC1	646	broad.mit.edu	37	chr15	83932176	83932176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaattactgattcacgatgGcagggcctctccccttcagg	9	13	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:83932176G>A	uc002bjt.1	-	4	1915	c.1827C>T	c.(1825-1827)TGC>TGT	p.C609C	BNC1_uc010uos.1_Silent_p.C597C	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	609					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ATTCACGATGGCAGGGCCTCT	0.552													A	83932176	G	A	83932176	2	1	272	1	0	0	0	0	0	0	0	1	1474	1195	42	2		2	BNC1	15	83932176	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1595872	83932176	18599216	1527	136638											
BNC1	646	broad.mit.edu	37	chr15	83935798	83935798	+	Frame_Shift_Del	DEL	G	G	-													acctggcttgttggatacatGggggggatccttagcttact							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:83935797_83935797TG>T	uc002bjt.1	-	2	314	c.226_226CA>A	c.(226-228)atgfs	p.M76fs	BNC1_uc010uos.1_Frame_Shift_Del_p.M64fs	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	76					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTGGATACATGGGGGGGATC	0.423													-	83935798	G	-	83935798	7	5	272	1	0	1	0	1	0	0	0	0	1474	1335	47	0	2771	0	BNC1	15	83935798	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3622	83935798	18595594	1528	136639											
PDE8A	5151	broad.mit.edu	37	chr15	85652315	85652315	+	Frame_Shift_Del	DEL	A	A	-													ggcaaacataaagacaggagAaaaggctcactagacgtcaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:85652314_85652314GA>G	uc002blh.3	+	11	1256	c.1067_1067GA>G	c.(1066-1068)agafs	p.R356fs	PDE8A_uc021stv.1_Frame_Shift_Del_p.R284fs|PDE8A_uc002bli.3_Frame_Shift_Del_p.R310fs|PDE8A_uc010bnc.3_Frame_Shift_Del_p.R109fs|PDE8A_uc010bnd.3_Frame_Shift_Del_p.R109fs|PDE8A_uc002blj.3_5'UTR|PDE8A_uc002blk.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	356					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)			AAAGACAGGAGAAAAGGCTCA	0.368													-	85652315	A	-	85652315	7	5	272	1	0	1	0	1	0	0	0	0	11653	243	9	0	1114	0	PDE8A	15	85652315	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1716517	85652315	16879077	1529	136640											
ACAN	176	broad.mit.edu	37	chr15	89400561	89400561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctagagacttcagcttctgGagctgaggacctcagtgggt	13	9	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:89400561G>A	uc010upo.1	+	12	5119	c.4745G>A	c.(4744-4746)GGA>GAA	p.G1582E	ACAN_uc010upp.1_Missense_Mutation_p.G1582E|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1582					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCAGCTTCTGGAGCTGAGGAC	0.537													A	89400561	G	A	89400561	3	1	272	1	0	0	0	0	1	0	0	0	117	1174	41	4	4787	4	ACAN	15	89400561	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3748246	89400561	13130831	1530	136641											
ACAN	176	broad.mit.edu	37	chr15	89402303	89402303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagaaggcgaggcgtccGctgccccagaagtgagtgga	15	10	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:89402303G>A	uc010upo.1	+	12	6861	c.6487G>A	c.(6487-6489)GCT>ACT	p.A2163T	ACAN_uc010upp.1_Missense_Mutation_p.A2163T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2163					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGCGTCCGCTGCCCCAGA	0.577													A	89402303	G	A	89402303	3	1	272	1	0	0	0	0	1	0	0	0	117	1087	38	1	6529	1	ACAN	15	89402303	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1742	89402303	13129089	1531	136642											
ABHD2	11057	broad.mit.edu	37	chr15	89698693	89698693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcccagaaaaatggctatCggtgcgccgtgctgaaccac	11	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:89698693C>T	uc002bnj.2	+	10	1383	c.466C>T	c.(466-468)CGG>TGG	p.R156W	ABHD2_uc002bnk.2_Missense_Mutation_p.R156W	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	156						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAATGGCTATCGGTGCGCCGT	0.517													T	89698693	C	T	89698693	3	4	272	1	0	0	0	0	1	0	0	0	82	875	31	1	476	1	ABHD2	15	89698693	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	296390	89698693	12832699	1532	136643											
KIF7	374654	broad.mit.edu	37	chr15	90176438	90176438	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcttcctctggaatgccgcGatctcttccgtcttaatctt	6	14	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:90176438G>A	uc002bof.2	-	13	2729	c.2652C>T	c.(2650-2652)ATC>ATT	p.I884I	KIF7_uc010upw.1_Silent_p.I370I	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	884	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGAATGCCGCGATCTCTTCCG	0.607													A	90176438	G	A	90176438	2	1	272	1	0	0	0	0	0	0	0	1	8309	1048	37	1		1	KIF7	15	90176438	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	477745	90176438	12354954	1533	136644											
SV2B	9899	broad.mit.edu	37	chr15	91835714	91835714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccatccttctggctgctGcttctctggttgggggtggc	13	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:91835714G>T	uc002bqv.2	+	12	2375	c.1984G>T	c.(1984-1986)GCT>TCT	p.A662S	SV2B_uc010uqv.1_Missense_Mutation_p.A511S|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	662	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTGGCTGCTGCTTCTCTGGT	0.498													T	91835714	G	T	91835714	3	4	272	1	0	0	0	0	1	0	0	0	15415	1319	46	5	2030	5	SV2B	15	91835714	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1659276	91835714	10695678	1534	136645											
ST8SIA2	8128	broad.mit.edu	37	chr15	92988137	92988137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgcatacccctcgctgCgcctgctgcacgccgttcgc	10	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:92988137C>T	uc002bra.2	+	5	975	c.820C>T	c.(820-822)CGC>TGC	p.R274C	ST8SIA2_uc002brb.2_Missense_Mutation_p.R253C	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	274	Lumenal (Potential).				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				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCCTCGCTGCGCCTGCTGCA	0.627													T	92988137	C	T	92988137	3	4	272	1	0	0	0	0	1	0	0	0	15231	768	27	1	838	1	ST8SIA2	15	92988137	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1152423	92988137	9543255	1535	136646											
IGF1R	3480	broad.mit.edu	37	chr15	99251056	99251056	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactacgccctggtcatcttCgagatgaccaatctcaagga	8	12	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:99251056C>T	uc002bul.2	+	2	410	c.360C>T	c.(358-360)TTC>TTT	p.F120F	IGF1R_uc010urq.1_Silent_p.F120F|IGF1R_uc010bon.2_Silent_p.F120F	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	120					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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	TGGTCATCTTCGAGATGACCA	0.532													T	99251056	C	T	99251056	2	4	272	1	0	0	0	0	0	0	0	1	7571	883	31	1		1	IGF1R	15	99251056	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6262919	99251056	3280336	1536	136647											
IGF1R	3480	broad.mit.edu	37	chr15	99251189	99251189	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatcctggatgcggtgTccaataactacattgtgggg	12	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:99251189T>A	uc002bul.2	+	2	543	c.493T>A	c.(493-495)TCC>ACC	p.S165T	IGF1R_uc010urq.1_Missense_Mutation_p.S165T|IGF1R_uc010bon.2_Missense_Mutation_p.S165T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	165					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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	GGATGCGGTGTCCAATAACTA	0.527													A	99251189	T	A	99251189	3	1	272	1	0	0	0	0	1	0	0	0	7571	1667	58	5	499	5	IGF1R	15	99251189	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	133	99251189	3280203	1537	136648											
CHSY1	22856	broad.mit.edu	37	chr15	101775437	101775438	+	Frame_Shift_Ins	INS	-	-	C													ggctcatgatcacgccaggcINSccccccatgcagaagttctc					rs74545602	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:101775436_101775437G>GC	uc021sxt.1	-	1	1142_1143	c.666_667C>GC	c.(664-669)gggcctfs	p.G222fs		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	222					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			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)			ATCACGCCAGGCCCCCCCATGC	0.614													C	101775438	-	C	101775437	7	5	272	1	0	1	1	0	0	0	0	0	3412	726	26	0	1750	0	CHSY1	15	101775437	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	2524248	101775437	755955	1538	136649											
TM2D3	80213	broad.mit.edu	37	chr15	102187098	102187098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgggatttgaagtctTgatcctatgtagcaaatgac	9	6	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:102187098T>C	uc002bxi.2	-	4	362	c.332A>G	c.(331-333)CAA>CGA	p.Q111R	TM2D3_uc010usg.1_Missense_Mutation_p.Q85R|TM2D3_uc002bxh.2_Missense_Mutation_p.Q46R|TM2D3_uc002bxj.2_Missense_Mutation_p.Q85R|TM2D3_uc002bxk.2_Missense_Mutation_p.Q46R|TM2D3_uc010ush.1_Missense_Mutation_p.Q111R	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	111						integral to membrane				ovary(1)	1	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)			TTTGAAGTCTTGATCCTATGT	0.403													C	102187098	T	C	102187098	3	2	272	1	0	0	0	0	1	0	0	0	15962	1812	63	3	423	3	TM2D3	15	102187098	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	411661	102187098	344294	1539	136650											
WDR24	84219	broad.mit.edu	37	chr16	735396	735396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaagtcgggcggcaggCggctgtcgtagagcgcgtgt	19	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:735396C>T	uc002ciz.1	-	7	2640	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	757										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GGGCGGCAGGCGGCTGTCGTA	0.667													T	735396	C	T	735396	3	4	272	1	0	0	0	0	1	0	0	0	17278	768	27	1	504	1	WDR24	16	735396	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		735396	89619357	1540	136651											
CHTF18	63922	broad.mit.edu	37	chr16	840568	840568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagcccttgggggccCctgaggaggagccgactgac	15	15	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:840568C>A	uc002cke.3	+	7	859	c.796C>A	c.(796-798)CCT>ACT	p.P266T	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.P271H|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.P294T|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	266					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.P266L(1)		kidney(1)	1		Hepatocellular(780;0.00335)				CTTGGGGGCCCCTGAGGAGGA	0.637													A	840568	C	A	840568	3	1	272	1	0	0	0	0	1	0	0	0	3414	623	22	5	822	5	CHTF18	16	840568	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	105172	840568	89514185	1541	136652											
GNG13	51764	broad.mit.edu	37	chr16	849007	849007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttggacgccatctccCgctggaaggccagctggtac	13	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:849007C>T	uc002ckh.3	-	2	173	c.71G>A	c.(70-72)CGG>CAG	p.R24Q		NM_016541	NP_057625	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein),	24					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity				0		Hepatocellular(780;0.00335)				CGCCATCTCCCGCTGGAAGGC	0.597													T	849007	C	T	849007	3	4	272	1	0	0	0	0	1	0	0	0	6526	652	23	1	140	1	GNG13	16	849007	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8439	849007	89505746	1542	136653											
C16orf42	115939	broad.mit.edu	37	chr16	1400977	1400977	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggagcagtcgatgacggcGaccccagactgcgccaccag	13	15	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:1400977G>A	uc002cll.2	-	3	425	c.357C>T	c.(355-357)GTC>GTT	p.V119V	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	119					rRNA processing						0		Hepatocellular(780;0.0893)				CGATGACGGCGACCCCAGACT	0.642													A	1400977	G	A	1400977	2	1	272	1	0	0	0	0	0	0	0	1	1813	1045	37	1		1	C16orf42	16	1400977	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	551970	1400977	88953776	1543	136654											
C16orf91	283951	broad.mit.edu	37	chr16	1470325	1470325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggcacctctccccacacCtgtctcaaccactggtccgc	6	20	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:1470325C>A	uc002clr.2	-	2	342	c.321G>T	c.(319-321)CAG>CAT	p.Q107H	C16orf91_uc010uvd.1_Missense_Mutation_p.Q264H	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	hypothetical protein LOC283951	107	Cytoplasmic (Potential).					integral to membrane					0						CTCCCCACACCTGTCTCAACC	0.647													A	1470325	C	A	1470325	3	1	272	1	0	0	0	0	1	0	0	0	1844	695	24	5	284	5	C16orf91	16	1470325	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	69348	1470325	88884428	1544	136655											
HAGH	3029	broad.mit.edu	37	chr16	1866996	1866996	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgtggccacagtagactctCtgaggagagaggtgacaggt	15	8	1	4	rs113814490		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:1866996C>A	uc002cna.2	-	7	1053	c.646_splice	c.e7-1	p.R216_splice	HAGH_uc002cmz.2_Splice_Site_p.R168_splice|HAGH_uc010uvp.1_Splice_Site_p.Q179_splice|HAGH_uc002cnb.1_Splice_Site_p.R168_splice	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1						glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	AGTAGACTCTCTGAGGAGAGA	0.627													A	1866996	C	A	1866996	5	1	272	1	0	0	0	0	0	0	1	0	6945	927	32	5	293	5	HAGH	16	1866996	Splice_Site	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	396671	1866996	88487757	1545	136656											
TBL3	10607	broad.mit.edu	37	chr16	2025588	2025588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtacacgcaggcccagccGccgggccctgggcaggagct	16	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2025588G>A	uc002cnu.1	+	10	966	c.864G>A	c.(862-864)CCG>CCA	p.P288P	TBL3_uc002cnv.1_Silent_p.P174P|TBL3_uc010bsb.1_Silent_p.P77P|TBL3_uc010bsc.1_Silent_p.P174P|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	288					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						AGGCCCAGCCGCCGGGCCCTG	0.687													A	2025588	G	A	2025588	2	1	272	1	0	0	0	0	0	0	0	1	15640	1074	38	1		1	TBL3	16	2025588	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	158592	2025588	88329165	1546	136657											
TSC2	7249	broad.mit.edu	37	chr16	2120494	2120494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcaagccacgccacgcGtgtgtatgagatgctggtca	13	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2120494G>A	uc002con.2	+	17	1860	c.1754G>A	c.(1753-1755)CGT>CAT	p.R585H	TSC2_uc010bsd.2_Missense_Mutation_p.R585H|TSC2_uc002coo.2_Missense_Mutation_p.R585H|TSC2_uc010uvv.1_Missense_Mutation_p.R548H|TSC2_uc010uvw.1_Missense_Mutation_p.R536H|TSC2_uc002cop.2_Missense_Mutation_p.R385H	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	585					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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CACGCCACGCGTGTGTATGAG	0.602			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2120494	G	A	2120494	3	1	272	1	0	0	0	0	1	0	0	0	16603	1145	40	1	1816	1	TSC2	16	2120494	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	94906	2120494	88234259	1547	136658											
TSC2	7249	broad.mit.edu	37	chr16	2124374	2124374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcatggccgtcccactGctggagttcctgtccagtga	12	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2124374G>A	uc002con.2	+	22	2635	c.2529G>A	c.(2527-2529)CTG>CTA	p.L843L	TSC2_uc010bsd.2_Silent_p.L843L|TSC2_uc002coo.2_Silent_p.L843L|TSC2_uc010uvv.1_Silent_p.L806L|TSC2_uc010uvw.1_Silent_p.L794L|TSC2_uc002cop.2_Silent_p.L643L	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	843					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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CCGTCCCACTGCTGGAGTTCC	0.622			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				A	2124374	G	A	2124374	2	1	272	1	0	0	0	0	0	0	0	1	16603	1306	46	2		2	TSC2	16	2124374	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3880	2124374	88230379	1548	136659											
PKD1	5310	broad.mit.edu	37	chr16	2140904	2140904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaccaaaagcaggaagAgcagcgaggccgccaggcca	13	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2140904A>T	uc002cos.1	-	43	12193	c.11984T>A	c.(11983-11985)CTC>CAC	p.L3995H	PKD1_uc002cot.1_Missense_Mutation_p.L3994H|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3995	Helical; (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AAGCAGGAAGAGCAGCGAGGC	0.706													T	2140904	A	T	2140904	3	4	272	1	0	0	0	0	1	0	0	0	11963	304	11	5	943	5	PKD1	16	2140904	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	16530	2140904	88213849	1549	136660											
PKD1	5310	broad.mit.edu	37	chr16	2158371	2158371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgtgtctgaccacacgCggtatgagccaccctcaatg	10	15	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2158371C>T	uc002cos.1	-	15	7006	c.6797G>A	c.(6796-6798)CGC>CAC	p.R2266H	PKD1_uc002cot.1_Missense_Mutation_p.R2266H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2266	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TGACCACACGCGGTATGAGCC	0.642													T	2158371	C	T	2158371	3	4	272	1	0	0	0	0	1	0	0	0	11963	768	27	1	6242	1	PKD1	16	2158371	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	17467	2158371	88196382	1550	136661											
E4F1	1877	broad.mit.edu	37	chr16	2285362	2285362	+	Frame_Shift_Del	DEL	C	C	-													cgacaccatcaccatcgccaCccccgagagcctgacagagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2285361_2285361AC>A	uc002cpm.3	+	13	2191	c.2143_2143AC>A	c.(2143-2145)accfs	p.T715fs	E4F1_uc010bsi.3_3'UTR|E4F1_uc010bsj.3_Frame_Shift_Del_p.T538fs|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	715					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						CACCATCGCCACCCCCGAGAG	0.682													-	2285362	C	-	2285362	7	5	272	1	0	1	0	1	0	0	0	0	4874	507	18	0	2198	0	E4F1	16	2285362	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	126991	2285362	88069391	1551	136662											
ABCA3	21	broad.mit.edu	37	chr16	2347360	2347360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgaggaacagcgaggaccCgcagcactgcagctccccct	11	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2347360C>A	uc002cpy.1	-	17	2945	c.2233G>T	c.(2233-2235)GGG>TGG	p.G745W	ABCA3_uc010bsk.1_Missense_Mutation_p.G687W|ABCA3_uc010bsl.1_Missense_Mutation_p.G745W	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	745	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(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				AGCGAGGACCCGCAGCACTGC	0.642													A	2347360	C	A	2347360	3	1	272	1	0	0	0	0	1	0	0	0	33	652	23	5	2949	5	ABCA3	16	2347360	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	61998	2347360	88007393	1552	136663											
TBC1D24	57465	broad.mit.edu	37	chr16	2546162	2546162	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgctatggactctccaGgatacaactgcttcgtggac	12	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2546162G>T	uc002cql.2	+	2	153	c.13G>T	c.(13-15)GGA>TGA	p.G5*	TBC1D24_uc002cqk.2_Nonsense_Mutation_p.G5*|TBC1D24_uc002cqm.2_Nonsense_Mutation_p.G5*|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	5					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						GGACTCTCCAGGATACAACTG	0.597													T	2546162	G	T	2546162	4	4	272	1	0	0	0	0	0	1	0	0	15611	1001	35	5	15	5	TBC1D24	16	2546162	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	198802	2546162	87808591	1553	136664											
AMDHD2	51005	broad.mit.edu	37	chr16	2577787	2577787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccagggctgcacctggaGggccccttcatcagccggga	13	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2577787G>T	uc002cqq.2	+	5	526	c.429G>T	c.(427-429)GAG>GAT	p.E143D	AMDHD2_uc002cqp.2_Missense_Mutation_p.E143D|AMDHD2_uc010uwc.1_Missense_Mutation_p.E143D|AMDHD2_uc010uwd.1_Translation_Start_Site	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	143					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						TGCACCTGGAGGGCCCCTTCA	0.701													T	2577787	G	T	2577787	3	4	272	1	0	0	0	0	1	0	0	0	568	991	35	5	447	5	AMDHD2	16	2577787	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	31625	2577787	87776966	1554	136665											
SRRM2	23524	broad.mit.edu	37	chr16	2811591	2811591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgacctagcccctctccGgaaaggagcagcacaggccc	10	17	1	0	rs138332398		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2811591G>A	uc002crk.2	+	11	1611	c.1062G>A	c.(1060-1062)CCG>CCA	p.P354P	SRRM2_uc002crj.1_Silent_p.P258P|SRRM2_uc002crl.1_Silent_p.P354P|SRRM2_uc010bsu.1_Silent_p.P258P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	354	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCCCCTCTCCGGAAAGGAGCA	0.567													A	2811591	G	A	2811591	2	1	272	1	0	0	0	0	0	0	0	1	15168	1103	39	1		1	SRRM2	16	2811591	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	233804	2811591	87543162	1555	136666											
PRSS33	260429	broad.mit.edu	37	chr16	2835149	2835149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcacccttactccttgtaGcggtcgccactctgggaggg	13	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2835149G>T	uc002cro.1	-	5	698	c.538C>A	c.(538-540)CTA>ATA	p.L180I	PRSS33_uc002crp.1_Missense_Mutation_p.A89D|PRSS33_uc010uwh.1_Missense_Mutation_p.L180I	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	protease, serine, 33 precursor	180	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						ACTCCTTGTAGCGGTCGCCAC	0.677													T	2835149	G	T	2835149	3	4	272	1	0	0	0	0	1	0	0	0	12623	962	34	5	312	5	PRSS33	16	2835149	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	23558	2835149	87519604	1556	136667											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983439	2983439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacacgctgctccgaggcGtggatagtttgctctaccgc	13	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2983439G>A	uc002csd.2	+	5	1468	c.1105G>A	c.(1105-1107)GTG>ATG	p.V369M	FLYWCH1_uc002csb.2_Missense_Mutation_p.V368M|FLYWCH1_uc002csc.2_Missense_Mutation_p.V368M|FLYWCH1_uc010bsv.2_Missense_Mutation_p.V44M	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	369						nucleus	DNA binding|metal ion binding				0						GCTCCGAGGCGTGGATAGTTT	0.677													A	2983439	G	A	2983439	3	1	272	1	0	0	0	0	1	0	0	0	5947	1145	40	1	1112	1	FLYWCH1	16	2983439	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	148290	2983439	87371314	1557	136668											
THOC6	79228	broad.mit.edu	37	chr16	3076568	3076568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagttgcacactatggacCttgaaactgggactttcacg	10	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:3076568C>A	uc002ctb.2	+	7	759	c.463C>A	c.(463-465)CTT>ATT	p.L155I	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.L155I|THOC6_uc002ctc.2_Missense_Mutation_p.L131I|THOC6_uc002cta.2_Missense_Mutation_p.L131I	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	155	WD 3.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						CACTATGGACCTTGAAACTGG	0.557													A	3076568	C	A	3076568	3	1	272	1	0	0	0	0	1	0	0	0	15866	681	24	5	489	5	THOC6	16	3076568	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	93129	3076568	87278185	1558	136669											
BTBD12	84464	broad.mit.edu	37	chr16	3633486	3633486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcagaaccatctggcGtttaggcagagggcggactc	13	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:3633486G>A	uc002cvp.2	-	14	5392	c.4765C>T	c.(4765-4767)CGC>TGC	p.R1589C		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1589	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						ACCATCTGGCGTTTAGGCAGA	0.562								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3633486	G	A	3633486	3	1	272	1	0	0	0	0	1	0	0	0	1540	1145	40	1	747	1	BTBD12	16	3633486	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	556918	3633486	86721267	1559	136670											
TRAP1	10131	broad.mit.edu	37	chr16	3712930	3712930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatttctcatccaggccaTgagctcctccgtctccttct	5	17	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:3712930T>C	uc002cvt.3	-	15	1836	c.1747A>G	c.(1747-1749)ATG>GTG	p.M583V	TRAP1_uc002cvs.2_Missense_Mutation_p.M374V|TRAP1_uc010uxf.1_Missense_Mutation_p.M530V|uc002cvu.2_RNA	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	583					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				ATCCAGGCCATGAGCTCCTCC	0.632													C	3712930	T	C	3712930	3	2	272	1	0	0	0	0	1	0	0	0	16452	1464	51	3	383	3	TRAP1	16	3712930	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	79444	3712930	86641823	1560	136671											
NUDT16L1	84309	broad.mit.edu	37	chr16	4745111	4745111	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgaggagaagctggtTgaggccctggctgcagccac	15	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4745111T>C	uc002cxe.2	+	3	579	c.567T>C	c.(565-567)GTT>GTC	p.V189V	NUDT16L1_uc002cxf.1_3'UTR	NM_032349	NP_115725	Q9BRJ7	SDOS_HUMAN	syndesmos	189	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity				0						AGAAGCTGGTTGAGGCCCTGG	0.622													C	4745111	T	C	4745111	2	2	272	1	0	0	0	0	0	0	0	1	10733	1799	63	3		3	NUDT16L1	16	4745111	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1032181	4745111	85609642	1561	136672											
C16orf71	146562	broad.mit.edu	37	chr16	4790235	4790235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcatcctctcaggaaGgaagagaccctggcaggcct	13	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4790235G>A	uc002cxn.2	+	4	820	c.358G>A	c.(358-360)GGA>AGA	p.G120R		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	120										central_nervous_system(1)	1						CTCTCAGGAAGGAAGAGACCC	0.562													A	4790235	G	A	4790235	3	1	272	1	0	0	0	0	1	0	0	0	1830	1001	35	4	368	4	C16orf71	16	4790235	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	45124	4790235	85564518	1562	136673											
ZNF500	26048	broad.mit.edu	37	chr16	4803010	4803010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtaccactccattctcaaCggggcatcctccctgccatc	7	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4803010C>T	uc002cxp.1	-	6	1057	c.810G>A	c.(808-810)CCG>CCA	p.P270P	ZNF500_uc002cxo.1_Silent_p.P62P|ZNF500_uc010uxt.1_Silent_p.P270P	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	270					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CCATTCTCAACGGGGCATCCT	0.637													T	4803010	C	T	4803010	2	4	272	1	0	0	0	0	0	0	0	1	17945	523	19	1		1	ZNF500	16	4803010	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	12775	4803010	85551743	1563	136674											
UBN1	29855	broad.mit.edu	37	chr16	4925234	4925234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcatacagcctccctcCgtgggacaggccaccagccg	11	18	0	0	rs145528581		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4925234C>T	uc002cyb.2	+	15	3162	c.2823C>T	c.(2821-2823)TCC>TCT	p.S941S	UBN1_uc010uxw.1_Silent_p.S941S|UBN1_uc002cyc.2_Silent_p.S941S	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	941	Ser-rich.				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	p.S941S(1)|p.S941F(1)		skin(2)	2						AGCCTCCCTCCGTGGGACAGG	0.582													T	4925234	C	T	4925234	2	4	272	1	0	0	0	0	0	0	0	1	16889	639	23	1		1	UBN1	16	4925234	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	122224	4925234	85429519	1564	136675											
SEC14L5	9717	broad.mit.edu	37	chr16	5061152	5061153	+	Frame_Shift_Ins	INS	-	-	C													tccagtggcaaatgcacagcINSccccccagcagcgtggcctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:5061151_5061152G>GC	uc002cye.2	+	14	2036_2037	c.1856_1857G>GC	c.(1855-1857)agcfs	p.S619fs		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	619	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAATGCACAGCCCCCCCAGCA	0.663													C	5061153	-	C	5061152	7	5	272	1	0	1	1	0	0	0	0	0	13985	738	26	0	1911	0	SEC14L5	16	5061152	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	135918	5061152	85293601	1565	136676											
A2BP1	54715	broad.mit.edu	37	chr16	7714948	7714948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgttgtttaccaggatgGattttatggtgcagacattt	11	5	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:7714948G>A	uc002cys.2	+	13	1896	c.908G>A	c.(907-909)GGA>GAA	p.G303E	A2BP1_uc002cyt.2_Missense_Mutation_p.G276E|A2BP1_uc010uxz.1_Missense_Mutation_p.G346E|A2BP1_uc010uya.1_Missense_Mutation_p.G260E|A2BP1_uc010uyb.1_Missense_Mutation_p.G303E|A2BP1_uc002cyw.2_Intron|A2BP1_uc002cyy.2_Intron|A2BP1_uc002cyx.2_Intron|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	303					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TACCAGGATGGATTTTATGGT	0.443													A	7714948	G	A	7714948	3	1	272	1	0	0	0	0	1	0	0	0	3	1174	41	4	1037	4	A2BP1	16	7714948	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2653796	7714948	82639805	1566	136677											
TEKT5	146279	broad.mit.edu	37	chr16	10775850	10775850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggagtctgatacttacGtgccgtcaattttctccatg	11	9	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:10775850G>A	uc002czz.1	-	4	935	c.863C>T	c.(862-864)ACG>ATG	p.T288M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	288					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						TGATACTTACGTGCCGTCAAT	0.537													A	10775850	G	A	10775850	3	1	272	1	0	0	0	0	1	0	0	0	15753	1159	40	1	610	1	TEKT5	16	10775850	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3060902	10775850	79578903	1567	136678											
SNN	8303	broad.mit.edu	37	chr16	11770033	11770033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctacctgcggctgcagCgcatcagccagtcagaggac	14	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:11770033C>T	uc002dbf.2	+	2	299	c.118C>T	c.(118-120)CGC>TGC	p.R40C		NM_003498	NP_003489	O75324	SNN_HUMAN	Stannin	40	Cytoplasmic.				response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane					0						GCGGCTGCAGCGCATCAGCCA	0.647													T	11770033	C	T	11770033	3	4	272	1	0	0	0	0	1	0	0	0	14849	768	27	1	120	1	SNN	16	11770033	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	994183	11770033	78584720	1568	136679											
NPIP	9284	broad.mit.edu	37	chr16	15045841	15045841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgagtgtgtctgctcaCtccccttccaccctcagcgg	8	19	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:15045841C>T	uc002dcy.3	+	8	1012	c.1012C>T	c.(1012-1014)CTC>TTC	p.L338F	NPIP_uc002dcx.3_RNA	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	nuclear pore complex interacting protein	338	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						TGTCTGCTCACTCCCCTTCCA	0.443													T	15045841	C	T	15045841	3	4	272	1	0	0	0	0	1	0	0	0	10584	565	20	4	1042	4	NPIP	16	15045841	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3275808	15045841	75308912	1569	136680											
PDXDC1	23042	broad.mit.edu	37	chr16	15110036	15110036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagattgaaagaactcTgtgagcagtatggcatatgg	14	4	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:15110036T>G	uc002dda.3	+	9	1002	c.778T>G	c.(778-780)TGT>GGT	p.C260G	PDXDC1_uc010uzl.1_Missense_Mutation_p.C245G|PDXDC1_uc010uzm.1_Missense_Mutation_p.C169G|PDXDC1_uc002dcz.2_Missense_Mutation_p.C237G|PDXDC1_uc002ddb.3_Missense_Mutation_p.C233G|PDXDC1_uc010uzn.1_Missense_Mutation_p.C232G|PDXDC1_uc002ddc.2_Missense_Mutation_p.C260G	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	260					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GAAAGAACTCTGTGAGCAGTA	0.498													G	15110036	T	G	15110036	3	3	272	1	0	0	0	0	1	0	0	0	11696	1580	55	5	812	5	PDXDC1	16	15110036	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	64195	15110036	75244717	1570	136681											
MYH11	4629	broad.mit.edu	37	chr16	15811203	15811203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgttgctgagctgctcGgcctggggaggagagtgaag	18	8	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:15811203G>A	uc002ddy.2	-	38	5405	c.5298C>T	c.(5296-5298)GCC>GCT	p.A1766A	MYH11_uc002ddv.2_Silent_p.A1773A|MYH11_uc002ddw.2_Silent_p.A1766A|MYH11_uc002ddx.2_Silent_p.A1773A|MYH11_uc010bvg.2_Silent_p.A1598A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.A472A	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1766	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TGAGCTGCTCGGCCTGGGGAG	0.637			T	CBFB	AML								A	15811203	G	A	15811203	2	1	272	1	0	0	0	0	0	0	0	1	10031	1103	39	1		1	MYH11	16	15811203	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	701167	15811203	74543550	1571	136682											
ABCC1	4363	broad.mit.edu	37	chr16	16232232	16232232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtcaagtgtcgggcagcGccagcttgtgtgcctagccc	14	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:16232232G>A	uc010bvi.2	+	30	4479	c.4304G>A	c.(4303-4305)CGC>CAC	p.R1435H	ABCC1_uc010bvj.2_Missense_Mutation_p.R1376H|ABCC1_uc010bvk.2_Missense_Mutation_p.R1379H|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Missense_Mutation_p.R1320H|ABCC1_uc002del.3_Missense_Mutation_p.R1329H	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1435	ABC transporter 2.|Cytoplasmic.				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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCGGGCAGCGCCAGCTTGTG	0.592													A	16232232	G	A	16232232	3	1	272	1	0	0	0	0	1	0	0	0	49	1087	38	1	4422	1	ABCC1	16	16232232	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	421029	16232232	74122521	1572	136683											
SMG1	23049	broad.mit.edu	37	chr16	18858833	18858833	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaagctgctgaattcGtctcaggacatacatgtgtt	8	9	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:18858833G>A	uc002dfm.2	-	38	6301	c.5938C>T	c.(5938-5940)CGA>TGA	p.R1980*	SMG1_uc010bwb.2_Nonsense_Mutation_p.R1840*|SMG1_uc010bwa.2_Nonsense_Mutation_p.R711*|SMG1_uc002dfo.3_Nonsense_Mutation_p.R278*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1980					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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGCTGAATTCGTCTCAGGACA	0.507													A	18858833	G	A	18858833	4	1	272	1	0	0	0	0	0	1	0	0	14795	1153	40	1	5151	1	SMG1	16	18858833	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2626601	18858833	71495920	1573	136684											
SYT17	51760	broad.mit.edu	37	chr16	19194968	19194968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagacggacctataacccCgacgactatttcaggaagtt	8	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:19194968C>T	uc002dfw.2	+	5	781	c.450C>T	c.(448-450)CCC>CCT	p.P150P	SYT17_uc002dfx.2_Silent_p.P89P|SYT17_uc002dfy.2_Silent_p.P146P|SYT17_uc002dfv.1_Silent_p.P89P	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	150						membrane|synaptic vesicle	transporter activity			ovary(1)	1						CCTATAACCCCGACGACTATT	0.542													T	19194968	C	T	19194968	2	4	272	1	0	0	0	0	0	0	0	1	15470	639	23	1		1	SYT17	16	19194968	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	336135	19194968	71159785	1574	136685											
C16orf62	57020	broad.mit.edu	37	chr16	19580847	19580847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccgctgagcagcgtcctCgatgggactgaccccctctc	11	17	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:19580847C>T	uc002dgn.1	+	3	231	c.219C>T	c.(217-219)CTC>CTT	p.L73L	C16orf62_uc002dgo.1_Silent_p.L73L|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Silent_p.L73L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	73						integral to membrane				ovary(1)	1						GCAGCGTCCTCGATGGGACTG	0.602													T	19580847	C	T	19580847	2	4	272	1	0	0	0	0	0	0	0	1	1825	871	31	1		1	C16orf62	16	19580847	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	385879	19580847	70773906	1575	136686											
UMOD	7369	broad.mit.edu	37	chr16	20357561	20357561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactcaggtacatgaagaCcttgtcgaagcccagactct	9	12	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:20357561C>T	uc002dgz.2	-	5	1198	c.1069G>A	c.(1069-1071)GTC>ATC	p.V357I	UMOD_uc002dha.2_Missense_Mutation_p.V357I|UMOD_uc002dhb.2_Missense_Mutation_p.V390I	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	357	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			ovary(1)|skin(1)	2						TACATGAAGACCTTGTCGAAG	0.587													T	20357561	C	T	20357561	3	4	272	1	0	0	0	0	1	0	0	0	16976	507	18	4	881	4	UMOD	16	20357561	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	776714	20357561	69997192	1576	136687											
DNAH3	55567	broad.mit.edu	37	chr16	21147818	21147818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcgaattccattggtcAgatagtaatagtatctcttc	7	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:21147818A>G	uc010vbe.1	-	6	713	c.713T>C	c.(712-714)CTG>CCG	p.L238P	DNAH3_uc002die.2_Missense_Mutation_p.L209P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	238	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TCCATTGGTCAGATAGTAATA	0.473													G	21147818	A	G	21147818	3	3	272	1	0	0	0	0	1	0	0	0	4603	188	7	3	11864	3	DNAH3	16	21147818	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	790257	21147818	69206935	1577	136688											
METTL9	51108	broad.mit.edu	37	chr16	21623995	21623995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacagagagaaattatgCgaatcactccaggctgtctt	9	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:21623995C>T	uc002dje.2	+	2	394	c.195C>T	c.(193-195)TGC>TGT	p.C65C	uc002diq.3_Intron|METTL9_uc002djf.2_Silent_p.C65C	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	65										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)		AGAAATTATGCGAATCACTCC	0.338													T	21623995	C	T	21623995	2	4	272	1	0	0	0	0	0	0	0	1	9508	776	27	1		1	METTL9	16	21623995	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	476177	21623995	68730758	1578	136689											
CDR2	1039	broad.mit.edu	37	chr16	22358598	22358598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcagggcgctgtactgCgtgtccacttcgtgcagaag	12	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:22358598C>T	uc002dkn.2	-	5	1361	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	351	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		CGCTGTACTGCGTGTCCACTT	0.577													T	22358598	C	T	22358598	2	4	272	1	0	0	0	0	0	0	0	1	3172	755	27	1		1	CDR2	16	22358598	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	734603	22358598	67996155	1579	136690											
USP31	57478	broad.mit.edu	37	chr16	23080440	23080440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagagctgtctacggagtCgctctgatccacataagcga	12	10	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23080440C>T	uc002dll.2	-	16	2986	c.2986G>A	c.(2986-2988)GAC>AAC	p.D996N	USP31_uc002dlk.2_Missense_Mutation_p.D268N|USP31_uc010vca.1_Missense_Mutation_p.D299N|USP31_uc010bxm.2_Missense_Mutation_p.D284N	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	996	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TCTACGGAGTCGCTCTGATCC	0.527													T	23080440	C	T	23080440	3	4	272	1	0	0	0	0	1	0	0	0	17059	884	31	1	1076	1	USP31	16	23080440	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	721842	23080440	67274313	1580	136691											
SCNN1B	6338	broad.mit.edu	37	chr16	23391462	23391462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaagaatttaactatcGcaccattgaagaatcagcag	6	10	1	3	rs138784278		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23391462G>A	uc002dln.2	+	12	1690	c.1514G>A	c.(1513-1515)CGC>CAC	p.R505H		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	505	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTTAACTATCGCACCATTGAA	0.527													A	23391462	G	A	23391462	3	1	272	1	0	0	0	0	1	0	0	0	13928	1087	38	1	1556	1	SCNN1B	16	23391462	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	311022	23391462	66963291	1581	136692											
PALB2	79728	broad.mit.edu	37	chr16	23646981	23646981	+	Frame_Shift_Del	DEL	T	T	-													gttatctgtagagacagtcaTttttttgccttgtgcctcca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23646980_23646980AT>A	uc002dlx.1	-	3	1087	c.887_887AT>T	c.(886-888)atgfs	p.M296fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	296	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)		AGAGACAGTCATTTTTTTGCC	0.368			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					-	23646981	T	-	23646981	7	5	272	1	0	1	0	1	0	0	0	0	11406	1493	52	0	2714	0	PALB2	16	23646981	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	255519	23646981	66707772	1582	136693											
PLK1	5347	broad.mit.edu	37	chr16	23700888	23700888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccaacatcacgccgcGcgaaggtgatgagctcgccc	13	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23700888G>A	uc002dlz.1	+	9	1552	c.1499G>A	c.(1498-1500)CGC>CAC	p.R500H		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	500	Linker.				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			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		ATCACGCCGCGCGAAGGTGAT	0.577													A	23700888	G	A	23700888	3	1	272	1	0	0	0	0	1	0	0	0	12094	1087	38	1	1533	1	PLK1	16	23700888	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	53907	23700888	66653865	1583	136694											
SLC5A11	115584	broad.mit.edu	37	chr16	24920325	24920325	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggtcctggtgaagagcattCactacctctacttctccatg	8	13	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:24920325C>T	uc002dmu.2	+	14	1790	c.1558C>T	c.(1558-1560)CAC>TAC	p.H520Y	SLC5A11_uc002dms.2_Missense_Mutation_p.H456Y|SLC5A11_uc010vcd.1_Missense_Mutation_p.H485Y|SLC5A11_uc002dmt.2_Missense_Mutation_p.H364Y|SLC5A11_uc010vce.1_Missense_Mutation_p.H450Y|SLC5A11_uc010bxt.2_Missense_Mutation_p.H456Y|SLC5A11_uc002dmv.2_Missense_Mutation_p.H143Y	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	520	Extracellular (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		GAAGAGCATTCACTACCTCTA	0.567													T	24920325	C	T	24920325	3	4	272	1	0	0	0	0	1	0	0	0	14663	826	29	4	1608	4	SLC5A11	16	24920325	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1219437	24920325	65434428	1584	136695											
IL21R	50615	broad.mit.edu	37	chr16	27448866	27448866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagcctccacaggtcGgcccacaatgccacgcatgc	9	18	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:27448866G>A	uc002doq.1	+	4	443	c.210G>A	c.(208-210)TCG>TCA	p.S70S	IL21R_uc002dor.1_Silent_p.S70S|IL21R_uc002dos.1_Silent_p.S70S	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	70	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						TCCACAGGTCGGCCCACAATG	0.567			T	BCL6	NHL								A	27448866	G	A	27448866	2	1	272	1	0	0	0	0	0	0	0	1	7671	1103	39	1		1	IL21R	16	27448866	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2528541	27448866	62905887	1585	136696											
GSG1L	146395	broad.mit.edu	37	chr16	27974491	27974491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacctttctccgatgccGgggccaggtcaatgaagctg	11	13	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:27974491G>A	uc002doz.2	-	2	468	c.383C>T	c.(382-384)CCG>CTG	p.P128L	GSG1L_uc010bya.1_Missense_Mutation_p.P128L	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	128						integral to membrane				ovary(1)	1						CTCCGATGCCGGGGCCAGGTC	0.547													A	27974491	G	A	27974491	3	1	272	1	0	0	0	0	1	0	0	0	6821	1116	39	1	636	1	GSG1L	16	27974491	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	525625	27974491	62380262	1586	136697											
XPO6	23214	broad.mit.edu	37	chr16	28133060	28133060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtacaattttatctgagatCcgtacagagtgactttgacc	8	8	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28133060C>T	uc002dpa.1	-	14	2291	c.1790G>A	c.(1789-1791)GGA>GAA	p.G597E	XPO6_uc002dpb.1_Missense_Mutation_p.G583E|XPO6_uc010vcp.1_Missense_Mutation_p.G597E	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	597					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TATCTGAGATCCGTACAGAGT	0.398													T	28133060	C	T	28133060	3	4	272	1	0	0	0	0	1	0	0	0	17445	855	30	4	1631	4	XPO6	16	28133060	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	158569	28133060	62221693	1587	136698											
CLN3	1201	broad.mit.edu	37	chr16	28488849	28488849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagtatcaggagagctgGcagaggaagtcatgcagagg	16	8	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28488849G>A	uc002dpo.2	-	15	1628	c.1305C>T	c.(1303-1305)TGC>TGT	p.C435C	uc010vct.1_Intron|CLN3_uc002dpl.2_Silent_p.C357C|CLN3_uc010vcu.1_Silent_p.C335C|CLN3_uc002dpn.2_Silent_p.C336C|CLN3_uc002dpm.2_Silent_p.C381C|CLN3_uc010vcv.1_Silent_p.C411C|CLN3_uc010byd.2_Silent_p.C338C|CLN3_uc002dpp.2_Silent_p.C435C|CLN3_uc002dpt.1_Silent_p.C335C|CLN3_uc002dpq.1_Silent_p.C387C|CLN3_uc010bye.1_Silent_p.C418C|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Silent_p.C308C|CLN3_uc002dpu.1_Silent_p.C333C	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	435					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						AGGAGAGCTGGCAGAGGAAGT	0.612													A	28488849	G	A	28488849	2	1	272	1	0	0	0	0	0	0	0	1	3543	1195	42	2		2	CLN3	16	28488849	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	355789	28488849	61865904	1588	136699											
ATP2A1	487	broad.mit.edu	37	chr16	28906196	28906196	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgagacagcactcaccacCctggtggagaagatgaatgt	11	11	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28906196C>A	uc002dro.1	+	12	1525	c.1341C>A	c.(1339-1341)ACC>ACA	p.T447T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.T447T|ATP2A1_uc002drp.1_Silent_p.T322T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	447	Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CACTCACCACCCTGGTGGAGA	0.602													A	28906196	C	A	28906196	2	1	272	1	0	0	0	0	0	0	0	1	1136	610	22	5		5	ATP2A1	16	28906196	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	417347	28906196	61448557	1589	136700											
NFATC2IP	84901	broad.mit.edu	37	chr16	28975083	28975083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccatgggactgtcgggaCggaagctctccttcttcttt	12	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28975083C>T	uc002dru.2	+	8	1174	c.1159C>T	c.(1159-1161)CGG>TGG	p.R387W	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.R108W|NFATC2IP_uc002drv.2_Missense_Mutation_p.R106W|NFATC2IP_uc010vdh.1_Missense_Mutation_p.R95W	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	387	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1						ACTGTCGGGACGGAAGCTCTC	0.542													T	28975083	C	T	28975083	3	4	272	1	0	0	0	0	1	0	0	0	10363	527	19	1	1189	1	NFATC2IP	16	28975083	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	68887	28975083	61379670	1590	136701											
PPP4C	5531	broad.mit.edu	37	chr16	30094825	30094826	+	Frame_Shift_Del	DEL	TG	TG	-													cgcaagtacggctcggtgacTgtgtggcgctactgcactga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30094824_30094825CTG>C	uc002dwe.3	+	5	548_549	c.413_414CTG>C	c.(412-414)actfs	p.T138fs	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Frame_Shift_Del_p.T138fs	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	138					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|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						GGCTCGGTGACTGTGTGGCGCT	0.579													-	30094826	TG	-	30094825	7	5	272	1	0	1	0	1	0	0	0	0	12402	1567	55	0	432	0	PPP4C	16	30094825	Frame_Shift_Del	DEL	TG	TCGA-HU-A4GQ-01A-11D-A25D-08	1119742	30094825	60259928	1591	136702											
CORO1A	11151	broad.mit.edu	37	chr16	30196549	30196549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagccggcaggtggtcCgctccagcaagttccgccac	13	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30196549C>T	uc002dww.2	+	2	141	c.19C>T	c.(19-21)CGC>TGC	p.R7C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Missense_Mutation_p.R7C|CORO1A_uc010bzq.2_Missense_Mutation_p.R7C|CORO1A_uc010bzr.2_Missense_Mutation_p.R7C|CORO1A_uc002dwx.2_5'UTR|CORO1A_uc002dwy.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	7					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						GCAGGTGGTCCGCTCCAGCAA	0.602													T	30196549	C	T	30196549	3	4	272	1	0	0	0	0	1	0	0	0	3753	652	23	1	21	1	CORO1A	16	30196549	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	101724	30196549	60158204	1592	136703											
ZNF48	197407	broad.mit.edu	37	chr16	30409115	30409115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggtcccccaaagattcctCggtcccggatccctgctggt	11	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30409115C>T	uc002dya.1	+	2	603	c.544C>T	c.(544-546)CGG>TGG	p.R182W	ZNF48_uc002dxz.1_Missense_Mutation_p.R59W	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGATTCCTCGGTCCCGGAT	0.602													T	30409115	C	T	30409115	3	4	272	1	0	0	0	0	1	0	0	0	17931	875	31	1	550	1	ZNF48	16	30409115	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	212566	30409115	59945638	1593	136704											
ZNF48	197407	broad.mit.edu	37	chr16	30409310	30409311	+	Frame_Shift_Ins	INS	-	-	C													gacacaccggggggagcagcINSccccccgaccagtggtgccc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30409309_30409310G>GC	uc002dya.2	+	1	1114_1115	c.738_739G>GC	c.(736-741)cagcccfs	p.Q246fs	ZNF48_uc021tgi.1_Frame_Shift_Ins_p.Q246fs|ZNF48_uc021tgj.1_Frame_Shift_Ins_p.Q123fs|ZNF48_uc021tgk.1_Frame_Shift_Ins_p.Q246fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	246					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						GGGGGGAGCAGCCCCCCCGACC	0.639													C	30409311	-	C	30409310	7	5	272	1	0	1	1	0	0	0	0	0	17931	739	26	0	745	0	ZNF48	16	30409310	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	195	30409310	59945443	1594	136705											
ZNF785	146540	broad.mit.edu	37	chr16	30593992	30593992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacggcctgctgccacgcGcgcctctcgctgcaggagcg	13	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30593992G>A	uc002dyw.1	-	3	1185	c.1107C>T	c.(1105-1107)CGC>CGT	p.R369R	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.R354R|ZNF785_uc010vez.1_Silent_p.R334R	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTGCCACGCGCGCCTCTCGC	0.627													A	30593992	G	A	30593992	2	1	272	1	0	0	0	0	0	0	0	1	18154	1074	38	1		1	ZNF785	16	30593992	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	184682	30593992	59760761	1595	136706											
ZNF785	146540	broad.mit.edu	37	chr16	30596523	30596523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccgggctccacgcctccActtctccttccacccacgag	6	22	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30596523A>G	uc002dyw.1	-	2	332	c.254T>C	c.(253-255)GTG>GCG	p.V85A	ZNF785_uc002dyv.1_Missense_Mutation_p.V85A|ZNF785_uc010vez.1_Missense_Mutation_p.V50A	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCACGCCTCCACTTCTCCTTC	0.572													G	30596523	A	G	30596523	3	3	272	1	0	0	0	0	1	0	0	0	18154	159	6	3	971	3	ZNF785	16	30596523	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2531	30596523	59758230	1596	136707											
RNF40	9810	broad.mit.edu	37	chr16	30777709	30777709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccccaggtggccctgCggagccttcctgaggaggta	14	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30777709C>T	uc002dzq.2	+	10	1246	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W	RNF40_uc010caa.2_Missense_Mutation_p.R375W|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R375W|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	375	Potential.				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(1)	1			Colorectal(24;0.198)			GGTGGCCCTGCGGAGCCTTCC	0.612													T	30777709	C	T	30777709	3	4	272	1	0	0	0	0	1	0	0	0	13493	759	27	1	1157	1	RNF40	16	30777709	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	181186	30777709	59577044	1597	136708											
SETD1A	9739	broad.mit.edu	37	chr16	30975995	30975995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccaagatgccttttcccGccgccacttctctgcatctt	5	17	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30975995G>A	uc002ead.1	+	7	1618	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	311	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						GCCTTTTCCCGCCGCCACTTC	0.517													A	30975995	G	A	30975995	3	1	272	1	0	0	0	0	1	0	0	0	14130	1087	38	1	954	1	SETD1A	16	30975995	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	198286	30975995	59378758	1598	136709											
ZNF646	9726	broad.mit.edu	37	chr16	31087907	31087907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggacttctccaatcccAtggctctcaagagccatatg	8	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31087907A>G	uc002eap.2	+	2	551	c.262A>G	c.(262-264)ATG>GTG	p.M88V	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	88	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CTCCAATCCCATGGCTCTCAA	0.637													G	31087907	A	G	31087907	3	3	272	1	0	0	0	0	1	0	0	0	18059	217	8	3	264	3	ZNF646	16	31087907	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	111912	31087907	59266846	1599	136710											
PRSS8	5652	broad.mit.edu	37	chr16	31146738	31146739	+	Frame_Shift_Ins	INS	-	-	C													ccacgtcctcacttacctgtINSccccgaccggagtaatccaa					rs8049043	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31146738_31146739insC	uc002ebc.3	-	1	413_414	c.81_82insG	c.(79-84)GGGACAfs	p.G27fs	PRSS8_uc010vfe.1_Frame_Shift_Ins_p.G27fs	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	27_28					proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						CACTTACCTGTCCCCGACCGGA	0.639													C	31146739	-	C	31146738	7	5	272	1	0	1	1	0	0	0	0	0	12635	1667	58	0	973	0	PRSS8	16	31146738	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	58831	31146738	59208015	1600	136711											
PRSS36	146547	broad.mit.edu	37	chr16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-													gctcagctccaggagggccaGggggggcctgagtcccaggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31151941_31151941AG>A	uc002ebd.3	-	12	2098	c.2039_2039CT>T	c.(2038-2040)ctgfs	p.L680fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGAGGGCCAGGGGGGGCCT	0.731													-	31151942	G	-	31151942	7	5	272	1	0	1	0	1	0	0	0	0	12625	991	35	0	541	0	PRSS36	16	31151942	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5204	31151942	59202811	1601	136712											
ZNF267	10308	broad.mit.edu	37	chr16	31927101	31927101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcttgccttactcaacatCggaaaattcatactggagaa	7	9	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31927101C>T	uc002ecs.3	+	4	1740	c.1531C>T	c.(1531-1533)CGG>TGG	p.R511W		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	511	C2H2-type 7.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TACTCAACATCGGAAAATTCA	0.343													T	31927101	C	T	31927101	3	4	272	1	0	0	0	0	1	0	0	0	17803	875	31	1	1545	1	ZNF267	16	31927101	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	775159	31927101	58427652	1602	136713											
ZNF423	23090	broad.mit.edu	37	chr16	49671250	49671250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccacatcggacgagactgGgctctgctcggccttggact	12	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:49671250G>T	uc002efs.2	-	5	2111	c.1813C>A	c.(1813-1815)CCA>ACA	p.P605T	ZNF423_uc010vgn.1_Missense_Mutation_p.P488T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	605					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GACGAGACTGGGCTCTGCTCG	0.562													T	49671250	G	T	49671250	3	4	272	1	0	0	0	0	1	0	0	0	17895	1232	43	5	2061	5	ZNF423	16	49671250	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	17744149	49671250	40683503	1603	136714											
ZNF423	23090	broad.mit.edu	37	chr16	49764836	49764836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgttcctgtcttccagCgcacggctggttttctgatc	10	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:49764836C>T	uc002efs.2	-	4	421	c.123G>A	c.(121-123)GCG>GCA	p.A41A		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	41					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGTCTTCCAGCGCACGGCTGG	0.512													T	49764836	C	T	49764836	2	4	272	1	0	0	0	0	0	0	0	1	17895	755	27	1		1	ZNF423	16	49764836	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	93586	49764836	40589917	1604	136715											
ADCY7	113	broad.mit.edu	37	chr16	50348306	50348306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactccttcaactccttccGcctccgcgtcggtgagcccg	9	19	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:50348306G>A	uc002egd.1	+	23	3228	c.2960G>A	c.(2959-2961)CGC>CAC	p.R987H		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	987	Cytoplasmic (Potential).|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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AACTCCTTCCGCCTCCGCGTC	0.632													A	50348306	G	A	50348306	3	1	272	1	0	0	0	0	1	0	0	0	299	1087	38	1	3050	1	ADCY7	16	50348306	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	583470	50348306	40006447	1605	136716											
SALL1	6299	broad.mit.edu	37	chr16	51171055	51171055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctccttgctgtcctccaCgaagcgggtgaagcggaagt	13	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:51171055C>T	uc010vgs.1	-	3	3974	c.3943G>A	c.(3943-3945)GTG>ATG	p.V1315M	SALL1_uc010vgr.1_Missense_Mutation_p.V1218M|SALL1_uc010cbv.2_Missense_Mutation_p.V167M	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1315					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGTCCTCCACGAAGCGGGTG	0.567													T	51171055	C	T	51171055	3	4	272	1	0	0	0	0	1	0	0	0	13810	536	19	1	35	1	SALL1	16	51171055	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	822749	51171055	39183698	1606	136717											
SALL1	6299	broad.mit.edu	37	chr16	51173598	51173598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataagctgtcttgggaggcGtctgcagacttaggtgtatc	14	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:51173598G>A	uc010vgs.1	-	2	2566	c.2535C>T	c.(2533-2535)GAC>GAT	p.D845D	SALL1_uc010vgr.1_Silent_p.D748D|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	845					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTGGGAGGCGTCTGCAGACT	0.483													A	51173598	G	A	51173598	2	1	272	1	0	0	0	0	0	0	0	1	13810	1136	40	1		1	SALL1	16	51173598	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2543	51173598	39181155	1607	136718											
AKTIP	64400	broad.mit.edu	37	chr16	53528485	53528485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggtgggatcaactagCgggtgaaagacaggaatatc	14	7	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:53528485C>T	uc002ehk.2	-	6	658	c.447G>A	c.(445-447)CCG>CCA	p.P149P	AKTIP_uc002ehl.2_Silent_p.P149P|AKTIP_uc002ehm.2_Silent_p.P149P	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	149					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)				GATCAACTAGCGGGTGAAAGA	0.413													T	53528485	C	T	53528485	2	4	272	1	0	0	0	0	0	0	0	1	482	755	27	1		1	AKTIP	16	53528485	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2354887	53528485	36826268	1608	136719											
LPCAT2	54947	broad.mit.edu	37	chr16	55584912	55584912	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgaatatgcatctattgcGagttcctcaaaaggaggaag	11	6	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:55584912G>A	uc002eie.3	+	11	1294	c.1113G>A	c.(1111-1113)GCG>GCA	p.A371A	LPCAT2_uc002eic.2_Silent_p.A101A	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						CATCTATTGCGAGTTCCTCAA	0.348													A	55584912	G	A	55584912	2	1	272	1	0	0	0	0	0	0	0	1	8911	1045	37	1		1	LPCAT2	16	55584912	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2056427	55584912	34769841	1609	136720											
CES7	221223	broad.mit.edu	37	chr16	55907790	55907790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagttatcccagggcgatGcaggctgcgggttcgtaaat	14	9	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:55907790G>A	uc002eip.2	-	2	382	c.233C>T	c.(232-234)GCA>GTA	p.A78V	CES7_uc002eio.2_Missense_Mutation_p.A78V|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	78						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CCAGGGCGATGCAGGCTGCGG	0.592													A	55907790	G	A	55907790	3	1	272	1	0	0	0	0	1	0	0	0	3272	1319	46	2	1542	2	CES7	16	55907790	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	322878	55907790	34446963	1610	136721											
CCDC102A	92922	broad.mit.edu	37	chr16	57552039	57552039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcagtccagtgcgctggCtgtttgccgccgccgccggg	16	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:57552039C>T	uc002elw.2	-	6	1402	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	397										ovary(1)	1						AGTGCGCTGGCTGTTTGCCGC	0.677													T	57552039	C	T	57552039	3	4	272	1	0	0	0	0	1	0	0	0	2736	797	28	2	479	2	CCDC102A	16	57552039	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1644249	57552039	32802714	1611	136722											
CNGB1	1258	broad.mit.edu	37	chr16	57965635	57965635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaacctgtgtgtccccgagGctgagcttgggactataagg	14	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:57965635G>A	uc002emt.2	-	17	1585	c.1520C>T	c.(1519-1521)GCC>GTC	p.A507V	CNGB1_uc010cdh.2_Missense_Mutation_p.A501V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	507	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						TGTCCCCGAGGCTGAGCTTGG	0.423													A	57965635	G	A	57965635	3	1	272	1	0	0	0	0	1	0	0	0	3600	1203	42	2	2303	2	CNGB1	16	57965635	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	413596	57965635	32389118	1612	136723											
PRSS54	221191	broad.mit.edu	37	chr16	58314489	58314489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcccagtggtggagtgagGacaggggagggccggccctc	18	10	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:58314489G>A	uc002enf.2	-	7	1222	c.827C>T	c.(826-828)TCC>TTC	p.S276F	PRSS54_uc002eng.2_Missense_Mutation_p.S276F|PRSS54_uc010vie.1_Missense_Mutation_p.S177F|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	276					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GTGGAGTGAGGACAGGGGAGG	0.522													A	58314489	G	A	58314489	3	1	272	1	0	0	0	0	1	0	0	0	12633	1174	41	4	364	4	PRSS54	16	58314489	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	348854	58314489	32040264	1613	136724											
CDH8	1006	broad.mit.edu	37	chr16	61689414	61689414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaatatggcaattaaggcGcccatactgagtccaattgg	10	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:61689414G>A	uc002eog.1	-	11	2118	c.1866C>T	c.(1864-1866)GGC>GGT	p.G622G		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	622	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		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)		CAATTAAGGCGCCCATACTGA	0.448													A	61689414	G	A	61689414	2	1	272	1	0	0	0	0	0	0	0	1	3116	1074	38	1		1	CDH8	16	61689414	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3374925	61689414	28665339	1614	136725											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66783190	66783190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtagtttagtcatgaGggttgttttaccagaaccat	9	7	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:66783190G>T	uc002eqb.1	-	3	239	c.208C>A	c.(208-210)CTC>ATC	p.L70I	DYNC1LI2_uc010vis.1_Missense_Mutation_p.L70I|DYNC1LI2_uc010vit.1_Missense_Mutation_p.L70I|DYNC1LI2_uc010viu.1_Intron	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	70					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTAGTCATGAGGGTTGTTTTA	0.463													T	66783190	G	T	66783190	3	4	272	1	0	0	0	0	1	0	0	0	4845	1000	35	5	1314	5	DYNC1LI2	16	66783190	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5093776	66783190	23571563	1615	136726											
HSF4	3299	broad.mit.edu	37	chr16	67200492	67200492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctttgggccacttcaggCggggccgagcaatgcaggag	15	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67200492C>T	uc002erl.1	+	8	1558	c.593C>T	c.(592-594)GCG>GTG	p.A198V	HSF4_uc002erm.1_Missense_Mutation_p.A198V|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	198	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCACTTCAGGCGGGGCCGAGC	0.562													T	67200492	C	T	67200492	3	4	272	1	0	0	0	0	1	0	0	0	7398	768	27	1	615	1	HSF4	16	67200492	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	417302	67200492	23154261	1616	136727											
ZDHHC1	29800	broad.mit.edu	37	chr16	67428950	67428950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcgcactttatacacgcGcctcttcctctttttctgca	5	15	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67428950G>A	uc010vjm.1	-	10	1489	c.1185C>T	c.(1183-1185)GGC>GGT	p.G395G	TPPP3_uc002eta.2_5'Flank|TPPP3_uc002etb.2_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	395						integral to membrane	DNA binding|zinc ion binding				0		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)		TTATACACGCGCCTCTTCCTC	0.622													A	67428950	G	A	67428950	2	1	272	1	0	0	0	0	0	0	0	1	17597	1074	38	1		1	ZDHHC1	16	67428950	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	228458	67428950	22925803	1617	136728											
RLTPR	146206	broad.mit.edu	37	chr16	67679931	67679931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttctaggtggactgcaCgttcagctacctggaggtcc	11	13	2	0	rs145651592	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67679931C>T	uc002etn.2	+	4	317	c.197C>T	c.(196-198)ACG>ATG	p.T66M	RLTPR_uc010cel.1_Missense_Mutation_p.T66M|RLTPR_uc010vjr.1_Missense_Mutation_p.T66M	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	66	LRR 1.									breast(1)	1		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)		GTGGACTGCACGTTCAGCTAC	0.627													T	67679931	C	T	67679931	3	4	272	1	0	0	0	0	1	0	0	0	13394	536	19	1	211	1	RLTPR	16	67679931	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	250981	67679931	22674822	1618	136729											
C16orf48	84080	broad.mit.edu	37	chr16	67697911	67697911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggccagggccgcagcGggagtgcgcccgcaggaagt	20	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67697911G>A	uc002etw.1	-	4	791	c.508C>T	c.(508-510)CGC>TGC	p.R170C	C16orf48_uc002etv.1_Missense_Mutation_p.R52C|C16orf48_uc010cem.1_Missense_Mutation_p.R170C|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	170						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGCCGCAGCGGGAGTGCGCC	0.662													A	67697911	G	A	67697911	3	1	272	1	0	0	0	0	1	0	0	0	1816	1116	39	1	548	1	C16orf48	16	67697911	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	17980	67697911	22656842	1619	136730											
CENPT	80152	broad.mit.edu	37	chr16	67865769	67865769	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagggttgtggggggctcGagctcaggaagttgcagctc	18	9	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67865769G>A	uc002eun.3	-	8	960	c.411C>T	c.(409-411)CTC>CTT	p.L137L	CENPT_uc002eum.3_Silent_p.L137L|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Silent_p.L34L	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	137					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGGGGGGCTCGAGCTCAGGAA	0.577													A	67865769	G	A	67865769	2	1	272	1	0	0	0	0	0	0	0	1	3242	1045	37	1		1	CENPT	16	67865769	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	167858	67865769	22488984	1620	136731											
DDX28	55794	broad.mit.edu	37	chr16	68055915	68055915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaccagaacagttccTgagggaccagtcctttctgc	9	13	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68055915T>C	uc002evh.1	-	1	2045	c.1191A>G	c.(1189-1191)TCA>TCG	p.S397S	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	397	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GAACAGTTCCTGAGGGACCAG	0.493													C	68055915	T	C	68055915	2	2	272	1	0	0	0	0	0	0	0	1	4355	1567	55	3		3	DDX28	16	68055915	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	190146	68055915	22298838	1621	136732											
ESRP2	80004	broad.mit.edu	37	chr16	68266193	68266193	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtcgctttatacaccTgtgggtacagagagcagcag	11	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68266193T>C	uc010cfa.1	-	9	1173	c.985_splice	c.e9-1	p.V329_splice	ESRP2_uc002evp.1_Splice_Site|ESRP2_uc002evq.1_Splice_Site_p.V319_splice	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B						mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						TTTATACACCTGTGGGTACAG	0.567													C	68266193	T	C	68266193	5	2	272	1	0	0	0	0	0	0	1	0	5259	1594	55	3	1228	3	ESRP2	16	68266193	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	210278	68266193	22088560	1622	136733											
PLA2G15	23659	broad.mit.edu	37	chr16	68289855	68289855	+	Frame_Shift_Del	DEL	G	G	-													cgtgtcactgggtgcgccctGggggggcgtggccaagaccc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68289854_68289854TG>T	uc002evr.3	+	4	771	c.688_688TG>T	c.(688-690)tggfs	p.W230fs	PLA2G15_uc010vld.2_Frame_Shift_Del_p.L188fs|PLA2G15_uc010vle.2_Frame_Shift_Del_p.W136fs|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Frame_Shift_Del_p.W51fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGT	0.632													-	68289855	G	-	68289855	7	5	272	1	0	1	0	1	0	0	0	0	11992	1357	47	0	707	0	PLA2G15	16	68289855	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	23662	68289855	22064898	1623	136734											
TMCO7	79613	broad.mit.edu	37	chr16	68934404	68934405	+	Frame_Shift_Ins	INS	-	-	T													cttccagtcctgggagtgctINSttttcttctctactgtttta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68934403_68934404C>CT	uc002ewi.4	+	7	1456_1457	c.1444_1445C>CT	c.(1444-1446)cttfs	p.L482fs		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	482						integral to membrane	binding	p.L11V(1)|p.L482V(1)|p.S481*(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CCTGGGAGTGCTTTTTCTTCTC	0.386													T	68934405	-	T	68934404	7	5	272	1	0	1	1	0	0	0	0	0	15998	1609	56	0	1475	0	TMCO7	16	68934404	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	644549	68934404	21420349	1624	136735											
HAS3	3038	broad.mit.edu	37	chr16	69143820	69143820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagggcatggaccgtgtGcgggatgtggtgcgggccag	21	8	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:69143820G>A	uc010cfh.2	+	2	746	c.522G>A	c.(520-522)GTG>GTA	p.V174V	HAS3_uc002ewk.2_Silent_p.V174V|HAS3_uc010vlk.1_Silent_p.V174V|HAS3_uc002ewl.2_Silent_p.V174V	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	174	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGGACCGTGTGCGGGATGTGG	0.657													A	69143820	G	A	69143820	2	1	272	1	0	0	0	0	0	0	0	1	6963	1306	46	2		2	HAS3	16	69143820	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	209416	69143820	21210933	1625	136736											
COG8	84342	broad.mit.edu	37	chr16	69373130	69373130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagcaggcggccgagcgacGcctccacgtcgccaaacagg	14	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:69373130G>T	uc002ewy.2	-	1	397	c.326C>A	c.(325-327)GCG>GAG	p.A109E	COG8_uc002ewz.3_Missense_Mutation_p.A109E|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	109					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GCCGAGCGACGCCTCCACGTC	0.627													T	69373130	G	T	69373130	3	4	272	1	0	0	0	0	1	0	0	0	3664	1087	38	5	1532	5	COG8	16	69373130	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	229310	69373130	20981623	1626	136737											
TERF2	7014	broad.mit.edu	37	chr16	69401095	69401095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtggttggaggattccGtagctgcctgcaaatcaagc	13	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:69401095G>A	uc002exd.2	-	7	954	c.829C>T	c.(829-831)CGG>TGG	p.R277W		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	277					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			lung(1)	1		Ovarian(137;0.101)				GGAGGATTCCGTAGCTGCCTG	0.443													A	69401095	G	A	69401095	3	1	272	1	0	0	0	0	1	0	0	0	15759	1144	40	1	689	1	TERF2	16	69401095	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	27965	69401095	20953658	1627	136738											
COG4	25839	broad.mit.edu	37	chr16	70514956	70514956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcactgcggaagtctatcCgcagggccagcacctggcgc	12	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:70514956C>T	uc002ezc.2	-	19	2338	c.2327G>A	c.(2326-2328)CGG>CAG	p.R776Q	COG4_uc002eza.2_Missense_Mutation_p.R113Q|COG4_uc002ezb.2_Missense_Mutation_p.R232Q|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R755Q|COG4_uc002eze.2_Missense_Mutation_p.R470Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	772	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GAAGTCTATCCGCAGGGCCAG	0.612													T	70514956	C	T	70514956	3	4	272	1	0	0	0	0	1	0	0	0	3660	652	23	1	46	1	COG4	16	70514956	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1113861	70514956	19839797	1628	136739											
COG4	25839	broad.mit.edu	37	chr16	70530337	70530337	+	Splice_Site	DEL	G	G	-													ttattacacagaacatccctGgggggcaggattgcatagag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:70530336_70530336TG>T	uc002ezc.3	-	12	1493	c.1482_splice	c.e12-1	p.R494_splice	COG4_uc002ezd.3_Splice_Site_p.R494_splice|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site_p.R188_splice	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	490					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAACATCCCTGGGGGGCAGG	0.567													-	70530337	G	-	70530337	8	5	272	1	0	1	0	1	0	0	1	0	3660	1363	47	0		0	COG4	16	70530337	Splice_Site	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	15381	70530337	19824416	1629	136740											
CHST4	10164	broad.mit.edu	37	chr16	71571193	71571193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatatcgtgcacctggtcCgggacccccgggccgtgttc	13	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:71571193C>T	uc002fan.2	+	2	794	c.613C>T	c.(613-615)CGG>TGG	p.R205W	CHST4_uc002fao.2_Missense_Mutation_p.R205W	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	205	Lumenal (Potential).|PAPS (By similarity).				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				0						GCACCTGGTCCGGGACCCCCG	0.577													T	71571193	C	T	71571193	3	4	272	1	0	0	0	0	1	0	0	0	3406	643	23	1	615	1	CHST4	16	71571193	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1040856	71571193	18783560	1630	136741											
ZNF821	55565	broad.mit.edu	37	chr16	71894324	71894324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccggctcttcttggccGtgcgctctcgttccagccgc	11	19	3	0	rs149068810	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:71894324G>A	uc010vmj.1	-	7	1212	c.836C>T	c.(835-837)ACG>ATG	p.T279M	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Missense_Mutation_p.T129M|ZNF821_uc002fbf.2_Missense_Mutation_p.T237M|ZNF821_uc002fbg.3_Missense_Mutation_p.T129M|ZNF821_uc002fbh.3_Missense_Mutation_p.T237M|ZNF821_uc002fbi.3_Missense_Mutation_p.T76M	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	279	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTCTTGGCCGTGCGCTCTCG	0.622													A	71894324	G	A	71894324	3	1	272	1	0	0	0	0	1	0	0	0	18175	1145	40	1	406	1	ZNF821	16	71894324	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	323131	71894324	18460429	1631	136742											
ZFHX3	463	broad.mit.edu	37	chr16	72821567	72821567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctccccacagagcgcGctctcgcacgccaggcagtg	11	18	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:72821567G>A	uc002fck.2	-	10	11281	c.10608C>T	c.(10606-10608)AGC>AGT	p.S3536S	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.S2622S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3536	C2H2-type 22.				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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CACAGAGCGCGCTCTCGCACG	0.393													A	72821567	G	A	72821567	2	1	272	1	0	0	0	0	0	0	0	1	17631	1078	38	1		1	ZFHX3	16	72821567	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	927243	72821567	17533186	1632	136743											
ZFHX3	463	broad.mit.edu	37	chr16	72822036	72822036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgtagttgccgcTgctgctgctgctgaattgcc	13	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:72822036T>C	uc002fck.2	-	10	10812	c.10139A>G	c.(10138-10140)CAG>CGG	p.Q3380R	ZFHX3_uc002fcl.2_Missense_Mutation_p.Q2466R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3380	Poly-Gln.		Missing.		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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				tagttgccgctgctgctgctg	0.433													C	72822036	T	C	72822036	3	2	272	1	0	0	0	0	1	0	0	0	17631	1580	55	3	976	3	ZFHX3	16	72822036	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	469	72822036	17532717	1633	136744											
ZFHX3	463	broad.mit.edu	37	chr16	72827364	72827364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagccatcaactgacGtacggtggctgggtcaaagt	13	8	2	2	rs149453115		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:72827364G>A	uc002fck.2	-	9	9890	c.9217C>T	c.(9217-9219)CGT>TGT	p.R3073C	ZFHX3_uc002fcl.2_Missense_Mutation_p.R2159C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3073					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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATCAACTGACGTACGGTGGCT	0.488													A	72827364	G	A	72827364	3	1	272	1	0	0	0	0	1	0	0	0	17631	1145	40	1	1902	1	ZFHX3	16	72827364	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5328	72827364	17527389	1634	136745											
CLEC18B	497190	broad.mit.edu	37	chr16	74444925	74444925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctgggccagcaccccgCctttcctctgtaaccccacc	7	19	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:74444925C>T	uc002fct.2	-	9	1192	c.992G>A	c.(991-993)GGC>GAC	p.G331D	CLEC18B_uc002fcu.2_Missense_Mutation_p.G331D|CLEC18B_uc010vmu.1_3'UTR	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	331	C-type lectin.					extracellular region	sugar binding				0						CAGCACCCCGCCTTTCCTCTG	0.612													T	74444925	C	T	74444925	3	4	272	1	0	0	0	0	1	0	0	0	3503	739	26	2	395	2	CLEC18B	16	74444925	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1617561	74444925	15909828	1635	136746											
FA2H	79152	broad.mit.edu	37	chr16	74760135	74760135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcattacctgttgtaaatgAcgtgaagagtcggacgttgc	13	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:74760135A>G	uc002fde.1	-	4	669	c.601T>C	c.(601-603)TCA>CCA	p.S201P	FA2H_uc010vmy.1_Intron	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	201					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						GTTGTAAATGACGTGAAGAGT	0.547													G	74760135	A	G	74760135	3	3	272	1	0	0	0	0	1	0	0	0	5352	275	10	3	533	3	FA2H	16	74760135	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	315210	74760135	15594618	1636	136747											
BCAR1	9564	broad.mit.edu	37	chr16	75269703	75269703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggtcaggagccgggggcGgcacgtcatacacgtcctcg	16	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:75269703G>A	uc002fdv.2	-	5	1217	c.1094C>T	c.(1093-1095)CCG>CTG	p.P365L	BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Missense_Mutation_p.P155L|BCAR1_uc010cgu.2_Missense_Mutation_p.P354L|BCAR1_uc010vna.1_Missense_Mutation_p.P363L|BCAR1_uc010vnb.1_Missense_Mutation_p.P411L|BCAR1_uc002fdw.2_Missense_Mutation_p.P365L|BCAR1_uc010vnc.1_Missense_Mutation_p.P217L|BCAR1_uc010vnd.1_Missense_Mutation_p.P383L|BCAR1_uc002fdx.2_Missense_Mutation_p.P383L	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	365	Substrate for kinases (By similarity).				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			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCGGGGGCGGCACGTCATA	0.716													A	75269703	G	A	75269703	3	1	272	1	0	0	0	0	1	0	0	0	1348	1116	39	1	1530	1	BCAR1	16	75269703	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	509568	75269703	15085050	1637	136748											
CHST6	4166	broad.mit.edu	37	chr16	75513514	75513514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacacgtgccacgcgggCtccattaggtagaagacgtc	12	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:75513514C>T	uc002fef.2	-	3	393	c.213G>A	c.(211-213)GAG>GAA	p.E71E	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.E71E	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	71	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCCACGCGGGCTCCATTAGGT	0.667													T	75513514	C	T	75513514	2	4	272	1	0	0	0	0	0	0	0	1	3408	796	28	2		2	CHST6	16	75513514	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	243811	75513514	14841239	1638	136749											
CNTNAP4	85445	broad.mit.edu	37	chr16	76573711	76573711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggacaacttcaccacAtaatgattaacagagaagaa	7	8	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:76573711A>G	uc002feu.1	+	22	3701	c.3316A>G	c.(3316-3318)ATA>GTA	p.I1106V	CNTNAP4_uc002fev.1_Missense_Mutation_p.I970V|CNTNAP4_uc010chb.1_Missense_Mutation_p.I1033V|CNTNAP4_uc002fex.1_Missense_Mutation_p.I1109V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1106	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						ACTTCACCACATAATGATTAA	0.348													G	76573711	A	G	76573711	3	3	272	1	0	0	0	0	1	0	0	0	3649	217	8	3	3407	3	CNTNAP4	16	76573711	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1060197	76573711	13781042	1639	136750											
ATMIN	23300	broad.mit.edu	37	chr16	81078356	81078356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccactgctaaaaatatAcctgctctagaaagcaaagt	6	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:81078356A>G	uc002ffz.1	+	4	2271	c.2253A>G	c.(2251-2253)ATA>ATG	p.I751M	ATMIN_uc002fga.2_Missense_Mutation_p.I593M|ATMIN_uc010vnn.1_Missense_Mutation_p.I522M|ATMIN_uc002fgb.1_Missense_Mutation_p.I593M	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	751					response to DNA damage stimulus	nucleus	zinc ion binding				0						CTAAAAATATACCTGCTCTAG	0.448													G	81078356	A	G	81078356	3	3	272	1	0	0	0	0	1	0	0	0	1110	381	14	3	2267	3	ATMIN	16	81078356	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4504645	81078356	9276397	1640	136751											
CMIP	80790	broad.mit.edu	37	chr16	81712200	81712200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccccaggccgaccgcaCgctcggctgctacgtggaaa	14	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:81712200C>T	uc002fgp.2	+	10	1427	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M	CMIP_uc002fgq.1_Missense_Mutation_p.T358M|CMIP_uc010vnq.1_Missense_Mutation_p.T265M|CMIP_uc002fgr.1_Missense_Mutation_p.T299M	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	418						cytoplasm|nucleus					0						GCCGACCGCACGCTCGGCTGC	0.547													T	81712200	C	T	81712200	3	4	272	1	0	0	0	0	1	0	0	0	3578	536	19	1	1415	1	CMIP	16	81712200	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	633844	81712200	8642553	1641	136752											
KCNG4	93107	broad.mit.edu	37	chr16	84256290	84256290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcacgtgtgcaacggcGcacggtgagccccagcgtct	13	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:84256290G>A	uc010voc.1	-	3	1214	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	365	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GTGCAACGGCGCACGGTGAGC	0.677													A	84256290	G	A	84256290	3	1	272	1	0	0	0	0	1	0	0	0	8030	1087	38	1	468	1	KCNG4	16	84256290	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2544090	84256290	6098463	1642	136753											
FOXF1	2294	broad.mit.edu	37	chr16	86544707	86544707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccagggctcggccggcGgcctctcgtgcccgcccaac	13	19	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:86544707G>A	uc002fjl.2	+	1	575	c.532G>A	c.(532-534)GGC>AGC	p.G178S	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	178					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				0						CTCGGCCGGCGGCCTCTCGTG	0.682													A	86544707	G	A	86544707	3	1	272	1	0	0	0	0	1	0	0	0	6005	1116	39	1	534	1	FOXF1	16	86544707	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2288417	86544707	3810046	1643	136754											
FBXO31	79791	broad.mit.edu	37	chr16	87364948	87364948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgaaggcctgtggggaCggcgcatctgcgttccggaa	15	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:87364948C>T	uc002fjw.2	-	9	1610	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	FBXO31_uc010vot.1_Silent_p.P350P|FBXO31_uc002fjv.2_Silent_p.P414P	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	522					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCTGTGGGGACGGCGCATCTG	0.622													T	87364948	C	T	87364948	2	4	272	1	0	0	0	0	0	0	0	1	5741	523	19	1		1	FBXO31	16	87364948	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	820241	87364948	2989805	1644	136755											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445990	87445990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcagcaggaacagatgaCgacagcagcagtttgatggg	14	7	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:87445990C>T	uc002fjz.1	-	12	1953	c.1926G>A	c.(1924-1926)TCG>TCA	p.S642S	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.S418S	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	642					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAACAGATGACGACAGCAGCA	0.592													T	87445990	C	T	87445990	2	4	272	1	0	0	0	0	0	0	0	1	17580	523	19	1		1	ZCCHC14	16	87445990	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	81042	87445990	2908763	1645	136756											
ANKRD11	29123	broad.mit.edu	37	chr16	89354947	89354947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaaccttgtagtgccCgttgttggcagcgtcgtgca	13	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:89354947C>T	uc002fmx.1	-	7	1194	c.733G>A	c.(733-735)GGG>AGG	p.G245R	ANKRD11_uc002fmy.1_Missense_Mutation_p.G245R|ANKRD11_uc002fnc.1_Missense_Mutation_p.G245R|ANKRD11_uc002fnd.2_Missense_Mutation_p.G211R|ANKRD11_uc002fne.2_Missense_Mutation_p.G211R|ANKRD11_uc002fnb.1_Missense_Mutation_p.G202R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	245	ANK 3.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TTGTAGTGCCCGTTGTTGGCA	0.602													T	89354947	C	T	89354947	3	4	272	1	0	0	0	0	1	0	0	0	639	652	23	1	7286	1	ANKRD11	16	89354947	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1908957	89354947	999806	1646	136757											
C16orf7	9605	broad.mit.edu	37	chr16	89778933	89778933	+	Splice_Site	DEL	G	G	-													ccgctgtagagagagggtctGgggggggaggagggagtaag					rs143123169	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:89778932_89778932TG>T	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAG	0.667													-	89778933	G	-	89778933	8	5	272	1	0	1	0	1	0	0	1	0	1828	1363	47	0		0	C16orf7	16	89778933	Splice_Site	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	423986	89778933	575820	1647	136758											
SPIRE2	84501	broad.mit.edu	37	chr16	89916879	89916879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagggctacgggggtccCgaggaggaggaggaggccga	22	7	0	1	rs146569219	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:89916879C>T	uc002foz.1	+	3	508	c.456C>T	c.(454-456)CCC>CCT	p.P152P	SPIRE2_uc010civ.1_Silent_p.P67P|SPIRE2_uc010ciw.1_Silent_p.P152P|SPIRE2_uc002fpa.1_Silent_p.P104P|SPIRE2_uc010cix.1_Silent_p.P21P	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	152	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGG	0.731													T	89916879	C	T	89916879	2	4	272	1	0	0	0	0	0	0	0	1	15071	639	23	1		1	SPIRE2	16	89916879	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	137946	89916879	437874	1648	136759											
FAM101B	359845	broad.mit.edu	37	chr17	292996	292996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctgcccgggagctccgCggcttcgagctccacgctgg	15	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:292996C>T	uc002frj.2	-	2	668	c.394G>A	c.(394-396)GCG>ACG	p.A132T		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	202											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		GGGAGCTCCGCGGCTTCGAGC	0.657													T	292996	C	T	292996	3	4	272	1	0	0	0	0	1	0	0	0	5381	768	27	1	44	1	FAM101B	17	292996	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		292996	80902214	1649	136760											
MYO1C	4641	broad.mit.edu	37	chr17	1370578	1370578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttggtgatgagcagctcCgagccgggtgtgaagtcaat	15	9	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1370578C>T	uc002fsp.2	-	31	3343	c.3123G>A	c.(3121-3123)TCG>TCA	p.S1041S	MYO1C_uc002fsn.2_Silent_p.S1022S|MYO1C_uc002fso.2_Silent_p.S1006S	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	1041					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				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGAGCAGCTCCGAGCCGGGTG	0.627													T	1370578	C	T	1370578	2	4	272	1	0	0	0	0	0	0	0	1	10070	639	23	1		1	MYO1C	17	1370578	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1077582	1370578	79824632	1650	136761											
PRPF8	10594	broad.mit.edu	37	chr17	1580395	1580395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgcatcacagctgcccGcagctcaaggtcaaaatgtg	9	12	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1580395G>A	uc002fte.2	-	15	2170	c.2056C>T	c.(2056-2058)CGG>TGG	p.R686W		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	686						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACAGCTGCCCGCAGCTCAAGG	0.542													A	1580395	G	A	1580395	3	1	272	1	0	0	0	0	1	0	0	0	12575	1086	38	1	5067	1	PRPF8	17	1580395	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	209817	1580395	79614815	1651	136762											
SERPINF2	5345	broad.mit.edu	37	chr17	1657536	1657536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcggcgtggaggcggcggCggccaccagcattgccatgt	18	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1657536C>T	uc002ftk.1	+	10	1261	c.1184C>T	c.(1183-1185)GCG>GTG	p.A395V	SERPINF2_uc010vqr.1_Missense_Mutation_p.A331V	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	395					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GAGGCGGCGGCGGCCACCAGC	0.662													T	1657536	C	T	1657536	3	4	272	1	0	0	0	0	1	0	0	0	14115	768	27	1	1228	1	SERPINF2	17	1657536	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	77141	1657536	79537674	1652	136763											
SERPINF1	5176	broad.mit.edu	37	chr17	1673293	1673293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgagccccacgaccaacGtgctcctgtctcctctcagt	8	18	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1673293G>A	uc002ftl.2	+	3	389	c.232G>A	c.(232-234)GTG>ATG	p.V78M	SERPINF1_uc010cjw.2_Intron	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	78					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						CACGACCAACGTGCTCCTGTC	0.632													A	1673293	G	A	1673293	3	1	272	1	0	0	0	0	1	0	0	0	14114	1145	40	1	238	1	SERPINF1	17	1673293	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	15757	1673293	79521917	1653	136764											
HIC1	3090	broad.mit.edu	37	chr17	1961293	1961293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagctgaacgcgcacGtggaggctcacgtggaggag	17	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1961293G>A	uc010cjy.2	+	2	1366	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M	HIC1_uc002fty.3_Missense_Mutation_p.V437M|HIC1_uc002ftz.3_Missense_Mutation_p.V437M	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	456	C2H2-type 1.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GAACGCGCACGTGGAGGCTCA	0.692													A	1961293	G	A	1961293	3	1	272	1	0	0	0	0	1	0	0	0	7101	1145	40	1	1372	1	HIC1	17	1961293	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	288000	1961293	79233917	1654	136765											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-													tattatgttttctgtagactAaaaaaagtggtaaacctggg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:2579802delA	uc002fuw.3	+	9	1472	c.904delA	c.(904-906)AAAfs	p.K302fs	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	302	WD 5.|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			skin(1)	1						TCTGTAGACTAAAAAAAGTGG	0.358													-	2579802	A	-	2579802	7	5	272	1	0	1	0	1	0	0	0	0	11384	363	13	0	934	0	PAFAH1B1	17	2579802	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	618509	2579802	78615408	1655	136766											
KIAA0664	23277	broad.mit.edu	37	chr17	2601713	2601714	+	Frame_Shift_Ins	INS	-	-	C													gccacgtaggccgccacgtcINSccccccgaagtccttgtagt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:2601712_2601713T>TC	uc002fuy.1	-	9	1410_1411	c.1324_1325A>GA	c.(1324-1326)gacfs	p.D442fs	KIAA0664_uc002fux.1_Frame_Shift_Ins_p.D374fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	442							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGCCGCCACGTCCCCCCCGAAG	0.624													C	2601714	-	C	2601713	7	5	272	1	0	1	1	0	0	0	0	0	8189	855	30	0	2673	0	KIAA0664	17	2601713	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	21911	2601713	78593497	1656	136767											
CAMKK1	84254	broad.mit.edu	37	chr17	3789008	3789008	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaagggggttcttctgcGtagccttgttgggaacctga	14	8	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:3789008G>A	uc002fwt.2	-	2	68	c.-26C>T	c.(-28--24)TACGC>TATGC		CAMKK1_uc002fwu.2_Translation_Start_Site|CAMKK1_uc002fwv.2_Translation_Start_Site	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1						synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTTCTTCTGCGTAGCCTTGTT	0.572													A	3789008	G	A	3789008	1	1	272	1	0	0	0	0	0	0	0	0	2606	1160	40	1		1	CAMKK1	17	3789008	Translation_Start_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1187295	3789008	77406202	1657	136768											
MINK1	50488	broad.mit.edu	37	chr17	4790892	4790892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctccatcatgaacgtgcCtggagagtcgactctacgcc	10	14	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4790892C>A	uc010vsl.1	+	12	1233	c.1037C>A	c.(1036-1038)CCT>CAT	p.P346H	MINK1_uc010vsk.1_Missense_Mutation_p.P346H|MINK1_uc010vsm.1_Missense_Mutation_p.P346H|MINK1_uc010vsn.1_Missense_Mutation_p.P346H|MINK1_uc010vso.1_Missense_Mutation_p.P291H|MINK1_uc010vsp.1_Translation_Start_Site	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	346					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						ATGAACGTGCCTGGAGAGTCG	0.502													A	4790892	C	A	4790892	3	1	272	1	0	0	0	0	1	0	0	0	9587	681	24	5	822	5	MINK1	17	4790892	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1001884	4790892	76404318	1658	136769											
MINK1	50488	broad.mit.edu	37	chr17	4795504	4795504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggggccggagggtccCggccagcccaggcagtccgt	17	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4795504C>T	uc010vsl.1	+	17	2258	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	MINK1_uc010vsk.1_Missense_Mutation_p.R688W|MINK1_uc010vsm.1_Missense_Mutation_p.R668W|MINK1_uc010vsn.1_Missense_Mutation_p.R688W|MINK1_uc010vso.1_Missense_Mutation_p.R633W|MINK1_uc010vsp.1_Missense_Mutation_p.R178W	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	688					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						CGGAGGGTCCCGGCCAGCCCA	0.652													T	4795504	C	T	4795504	3	4	272	1	0	0	0	0	1	0	0	0	9587	643	23	1	1867	1	MINK1	17	4795504	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4612	4795504	76399706	1659	136770											
ENO3	2027	broad.mit.edu	37	chr17	4858836	4858836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtcgcctgatgatcccGcacggcacatcactggggag	12	13	2	2	rs149301373		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4858836G>A	uc002gab.3	+	8	896	c.802G>A	c.(802-804)GCA>ACA	p.A268T	ENO3_uc010vsr.1_Missense_Mutation_p.A175T|ENO3_uc002gac.3_Missense_Mutation_p.A268T|ENO3_uc010vss.1_Missense_Mutation_p.A225T|ENO3_uc010vst.1_Missense_Mutation_p.A104T	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	268					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TGATGATCCCGCACGGCACAT	0.527													A	4858836	G	A	4858836	3	1	272	1	0	0	0	0	1	0	0	0	5123	1087	38	1	828	1	ENO3	17	4858836	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	63332	4858836	76336374	1660	136771											
PITPNM3	83394	broad.mit.edu	37	chr17	6374567	6374567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcatcctccgtcctgggCgctggaacctcgaggcctga	12	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6374567C>T	uc002gdd.3	-	12	1689	c.1538G>A	c.(1537-1539)CGC>CAC	p.R513H	PITPNM3_uc010cln.2_Missense_Mutation_p.R477H|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Missense_Mutation_p.R104H	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	513	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCGTCCTGGGCGCTGGAACCT	0.692													T	6374567	C	T	6374567	3	4	272	1	0	0	0	0	1	0	0	0	11952	768	27	1	1422	1	PITPNM3	17	6374567	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1515731	6374567	74820643	1661	136772											
PITPNM3	83394	broad.mit.edu	37	chr17	6406880	6406880	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgctggatgtgcacgGcgcggtcccttctcctgcag	15	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6406880G>C	uc002gdd.3	-	4	392	c.241C>G	c.(241-243)CCG>GCG	p.P81A	PITPNM3_uc010cln.2_Missense_Mutation_p.P45A	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	81					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GATGTGCACGGCGCGGTCCCT	0.562													C	6406880	G	C	6406880	3	2	272	1	0	0	0	0	1	0	0	0	11952	1203	42	5	2751	5	PITPNM3	17	6406880	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	32313	6406880	74788330	1662	136773											
SLC13A5	284111	broad.mit.edu	37	chr17	6607255	6607255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccggcctcggtggctgcGcttgtggcttccatctgctg	15	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6607255G>A	uc002gdj.2	-	4	577	c.489C>T	c.(487-489)AGC>AGT	p.S163S	SLC13A5_uc010vtf.1_Silent_p.S163S|SLC13A5_uc010clq.2_Silent_p.S120S|SLC13A5_uc002gdk.2_Silent_p.S146S|SLC13A5_uc002gdl.1_Silent_p.S145S	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	163						integral to membrane	citrate transmembrane transporter activity				0						CGGTGGCTGCGCTTGTGGCTT	0.647													A	6607255	G	A	6607255	2	1	272	1	0	0	0	0	0	0	0	1	14395	1078	38	1		1	SLC13A5	17	6607255	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	200375	6607255	74587955	1663	136774											
BCL6B	255877	broad.mit.edu	37	chr17	6927811	6927811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggtagtcccaggcgctccGaaggacacccagacccacct	10	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6927811G>A	uc002geg.2	+	4	550	c.493G>A	c.(493-495)GAA>AAA	p.E165K	BCL6B_uc010clt.1_Missense_Mutation_p.E165K	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	165	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						CAGGCGCTCCGAAGGACACCC	0.622													A	6927811	G	A	6927811	3	1	272	1	0	0	0	0	1	0	0	0	1377	1059	37	1	503	1	BCL6B	17	6927811	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	320556	6927811	74267399	1664	136775											
C17orf74	201243	broad.mit.edu	37	chr17	7329095	7329095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggacatcttactcctgCtgctgggcctcatcgttctt	9	14	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7329095C>T	uc002ggw.2	+	1	161	c.88C>T	c.(88-90)CTG>TTG	p.L30L	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	30	Helical; (Potential).					integral to membrane					0		Prostate(122;0.157)				CTTACTCCTGCTGCTGGGCCT	0.537													T	7329095	C	T	7329095	2	4	272	1	0	0	0	0	0	0	0	1	1879	796	28	2		2	C17orf74	17	7329095	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	401284	7329095	73866115	1665	136776											
SHBG	6462	broad.mit.edu	37	chr17	7534615	7534615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccctgaccagcaaacGccatcccatcatgaggattg	10	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7534615G>A	uc002gie.2	+	4	529	c.491G>A	c.(490-492)CGC>CAC	p.R164H	SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Missense_Mutation_p.R106H|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.R106H|SHBG_uc010cmu.2_Missense_Mutation_p.R106H|SHBG_uc010cmz.2_Missense_Mutation_p.R106H|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.R106H|SHBG_uc002gid.3_Missense_Mutation_p.R106H|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.R164H|SHBG_uc010vuf.1_Missense_Mutation_p.R164H|SHBG_uc010cnb.2_Missense_Mutation_p.R164H|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	sex hormone-binding globulin isoform 1	164	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)			0		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)	ACCAGCAAACGCCATCCCATC	0.622													A	7534615	G	A	7534615	3	1	272	1	0	0	0	0	1	0	0	0	14269	1087	38	1	505	1	SHBG	17	7534615	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	205520	7534615	73660595	1666	136777											
TP53	7157	broad.mit.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	11	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7577551C>A	uc002gim.2	-	7	924	c.730G>T	c.(730-732)GGC>TGC	p.G244C	TP53_uc002gig.1_Missense_Mutation_p.G244C|TP53_uc002gih.2_Missense_Mutation_p.G244C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112C|TP53_uc010cng.1_Missense_Mutation_p.G112C|TP53_uc002gii.1_Missense_Mutation_p.G112C|TP53_uc010cnh.1_Missense_Mutation_p.G244C|TP53_uc010cni.1_Missense_Mutation_p.G244C|TP53_uc002gij.2_Missense_Mutation_p.G244C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151C|TP53_uc002gio.2_Missense_Mutation_p.G112C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	244	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TTCATGCCGCCCATGCAGGAA	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577551	C	A	7577551	3	1	272	1	0	0	0	0	1	0	0	0	16378	623	22	5	560	5	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	42936	7577551	73617659	1667	136778											
DNAH2	146754	broad.mit.edu	37	chr17	7662800	7662800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatggaggatgccctgCgcctgaatgtgaagtggtca	15	8	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7662800C>T	uc002giu.1	+	15	2523	c.2509C>T	c.(2509-2511)CGC>TGC	p.R837C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	837	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGATGCCCTGCGCCTGAATGT	0.502													T	7662800	C	T	7662800	3	4	272	1	0	0	0	0	1	0	0	0	4602	768	27	1	2567	1	DNAH2	17	7662800	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	85249	7662800	73532410	1668	136779											
DNAH2	146754	broad.mit.edu	37	chr17	7681430	7681430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccgccagaccaacacGcaatttcagtataattatga	6	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7681430G>A	uc002giu.1	+	33	5297	c.5283G>A	c.(5281-5283)ACG>ACA	p.T1761T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1761	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGACCAACACGCAATTTCAGT	0.532													A	7681430	G	A	7681430	2	1	272	1	0	0	0	0	0	0	0	1	4602	1074	38	1		1	DNAH2	17	7681430	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	18630	7681430	73513780	1669	136780											
DNAH2	146754	broad.mit.edu	37	chr17	7710838	7710838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaagcgaatccgaatgaaCgctgccttggctcagcttcg	10	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7710838C>T	uc002giu.1	+	62	9677	c.9663C>T	c.(9661-9663)AAC>AAT	p.N3221N	DNAH2_uc010cnm.1_Silent_p.N159N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3221	Potential.|Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCGAATGAACGCTGCCTTGG	0.637													T	7710838	C	T	7710838	2	4	272	1	0	0	0	0	0	0	0	1	4602	535	19	1		1	DNAH2	17	7710838	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	29408	7710838	73484372	1670	136781											
KDM6B	23135	broad.mit.edu	37	chr17	7749463	7749463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtgcaggcattgctcCgggagccagcccagccaggg	16	13	0	0	rs145085233		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7749463C>T	uc002giw.1	+	6	680	c.304C>T	c.(304-306)CGG>TGG	p.R102W	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	102					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)|pancreas(1)	2						GGCATTGCTCCGGGAGCCAGC	0.637													T	7749463	C	T	7749463	3	4	272	1	0	0	0	0	1	0	0	0	8138	643	23	1	314	1	KDM6B	17	7749463	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	38625	7749463	73445747	1671	136782											
CHD3	1107	broad.mit.edu	37	chr17	7798700	7798700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagatcctacattggcGgtggggggagccacctgtag	16	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7798700G>A	uc002gje.2	+	10	1697	c.1547G>A	c.(1546-1548)CGG>CAG	p.R516Q	CHD3_uc002gjd.2_Missense_Mutation_p.R575Q|CHD3_uc002gjf.2_Missense_Mutation_p.R516Q|CHD3_uc002gjg.1_Missense_Mutation_p.R344Q	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	516	Chromo 1.				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(1)	1		Prostate(122;0.202)				CTACATTGGCGGTGGGGGGAG	0.572													A	7798700	G	A	7798700	3	1	272	1	0	0	0	0	1	0	0	0	3326	1116	39	1	1866	1	CHD3	17	7798700	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	49237	7798700	73396510	1672	136783											
ALOXE3	59344	broad.mit.edu	37	chr17	8020176	8020176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatacactaccatccggttcGgtgacacagatgcggctaca	10	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8020176G>A	uc010cnr.2	-	3	640	c.270C>T	c.(268-270)ACC>ACT	p.T90T	ALOXE3_uc002gka.2_Silent_p.T246T|ALOXE3_uc010vuo.1_Silent_p.T222T|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	90	PLAT.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						CATCCGGTTCGGTGACACAGA	0.582													A	8020176	G	A	8020176	2	1	272	1	0	0	0	0	0	0	0	1	542	1103	39	1		1	ALOXE3	17	8020176	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	221476	8020176	73175034	1673	136784											
VAMP2	6844	broad.mit.edu	37	chr17	8065661	8065661	+	Frame_Shift_Del	DEL	G	G	-													cctccccagccggggcagcaGggggggccgtggcagcggta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8065660_8065660AG>A	uc010cnt.1	-	1	126	c.30_30CT>T	c.(28-30)cctfs	p.P10fs		NM_014232	NP_055047	P63027	VAMP2_HUMAN	Homo sapiens vesicle-associated membrane protein 2 (synaptobrevin 2) (VAMP2), mRNA.	10					energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|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 plasma membrane|synaptic vesicle membrane|synaptosome										Botulinum Toxin Type B(DB00042)	CCGGGGCAGCAGGGGGGGCCG	0.697													-	8065661	G	-	8065661	7	5	272	1	0	1	0	1	0	0	0	0	17110	1000	35	0	337	0	VAMP2	17	8065661	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	45485	8065661	73129549	1674	136785											
AURKB	9212	broad.mit.edu	37	chr17	8110190	8110190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaatagttgtagagacGcaggatgttgggatggctgg	15	3	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8110190G>A	uc002gkm.2	-	6	476	c.415C>T	c.(415-417)CGT>TGT	p.R139C	AURKB_uc010cnu.2_Intron|AURKB_uc002gkn.2_Missense_Mutation_p.R140C|AURKB_uc010vuu.1_Missense_Mutation_p.R98C|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	139	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			lung(2)|breast(1)|central_nervous_system(1)	4						TTGTAGAGACGCAGGATGTTG	0.522													A	8110190	G	A	8110190	3	1	272	1	0	0	0	0	1	0	0	0	1223	1087	38	1	635	1	AURKB	17	8110190	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	44529	8110190	73085020	1675	136786											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215771	8215771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccatggctggagtcctGgctcagaatggctctgcctc	11	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8215771G>A	uc002glc.2	+	2	535	c.414G>A	c.(412-414)CTG>CTA	p.L138L	ARHGEF15_uc002glb.1_Silent_p.L138L|ARHGEF15_uc002gld.2_Silent_p.L138L|ARHGEF15_uc010vuw.1_Silent_p.L138L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	138					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTGGAGTCCTGGCTCAGAATG	0.687													A	8215771	G	A	8215771	2	1	272	1	0	0	0	0	0	0	0	1	898	1335	47	4		4	ARHGEF15	17	8215771	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	105581	8215771	72979439	1676	136787											
MYH10	4628	broad.mit.edu	37	chr17	8452089	8452089	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtagttattaaatccTtcaagaagcaaatcagctaa	5	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8452089T>C	uc002gll.2	-	9	1002	c.906A>G	c.(904-906)GAA>GAG	p.E302E	MYH10_uc002glm.2_Silent_p.E312E|MYH10_uc010cnx.2_Silent_p.E311E|MYH10_uc010cny.1_RNA	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	302	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			ovary(2)	2						TATTAAATCCTTCAAGAAGCA	0.363													C	8452089	T	C	8452089	2	2	272	1	0	0	0	0	0	0	0	1	10030	1606	56	3		3	MYH10	17	8452089	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	236318	8452089	72743121	1677	136788											
USP43	124739	broad.mit.edu	37	chr17	9631535	9631535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagaagtcagcatcgccgaGgtccaacgtcgcccttcctg	11	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:9631535G>T	uc010cod.2	+	15	2600	c.2600G>T	c.(2599-2601)AGG>ATG	p.R867M	USP43_uc002gma.3_Missense_Mutation_p.R556M|USP43_uc010vva.1_Missense_Mutation_p.R862M|USP43_uc010coe.2_Missense_Mutation_p.R664M|USP43_uc002gmc.3_Missense_Mutation_p.R379M	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	867					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCATCGCCGAGGTCCAACGTC	0.607													T	9631535	G	T	9631535	3	4	272	1	0	0	0	0	1	0	0	0	17071	1000	35	5	2658	5	USP43	17	9631535	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1179446	9631535	71563675	1678	136789											
GLP2R	9340	broad.mit.edu	37	chr17	9792733	9792733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgcttcttgctagcccGccactcaggctgcagagcct	11	16	2	1	rs143908746	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:9792733G>A	uc002gmd.1	+	13	1373	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	458	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	TTGCTAGCCCGCCACTCAGGC	0.562													A	9792733	G	A	9792733	3	1	272	1	0	0	0	0	1	0	0	0	6453	1087	38	1	1423	1	GLP2R	17	9792733	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	161198	9792733	71402477	1679	136790											
MYH13	8735	broad.mit.edu	37	chr17	10212618	10212618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgacagcctgcgggtcCgctccgtctgttccagggcc	13	16	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10212618C>T	uc002gmk.1	-	35	5192	c.5102G>A	c.(5101-5103)CGG>CAG	p.R1701Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1701	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CCTGCGGGTCCGCTCCGTCTG	0.657													T	10212618	C	T	10212618	3	4	272	1	0	0	0	0	1	0	0	0	10032	652	23	1	742	1	MYH13	17	10212618	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	419885	10212618	70982592	1680	136791											
MYH8	4626	broad.mit.edu	37	chr17	10303724	10303724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttggctttggaaatggCctctgcgttactgctgaggt	12	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10303724C>T	uc002gmm.2	-	27	3813	c.3718G>A	c.(3718-3720)GCC>ACC	p.A1240T	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1240	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTGGAAATGGCCTCTGCGTTA	0.453									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				T	10303724	C	T	10303724	3	4	272	1	0	0	0	0	1	0	0	0	10041	739	26	2	2151	2	MYH8	17	10303724	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	91106	10303724	70891486	1681	136792											
MYH8	4626	broad.mit.edu	37	chr17	10318675	10318675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccagtaggggattggcGctgatgatttgatcttccag	13	9	1	3	rs146651214	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10318675G>A	uc002gmm.2	-	8	770	c.675C>T	c.(673-675)AGC>AGT	p.S225S	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	225	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			skin(6)|ovary(3)|breast(2)	11						GGGGATTGGCGCTGATGATTT	0.507									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				A	10318675	G	A	10318675	2	1	272	1	0	0	0	0	0	0	0	1	10041	1078	38	1		1	MYH8	17	10318675	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	14951	10318675	70876535	1682	136793											
MYH2	4620	broad.mit.edu	37	chr17	10438444	10438444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcctttcctacagatgCggatgccttccagcacaccg	8	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10438444C>T	uc010coi.2	-	19	2254	c.2126G>A	c.(2125-2127)CGC>CAC	p.R709H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R709H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	709	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R709C(1)		ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CCTACAGATGCGGATGCCTTC	0.433													T	10438444	C	T	10438444	3	4	272	1	0	0	0	0	1	0	0	0	10035	768	27	1	3787	1	MYH2	17	10438444	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	119769	10438444	70756766	1683	136794											
MYH3	4621	broad.mit.edu	37	chr17	10538718	10538718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctgtgcgctggatggCgtccgtctcgtatttggttc	12	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10538718C>T	uc002gmq.1	-	29	4215	c.4138G>A	c.(4138-4140)GCC>ACC	p.A1380T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1380	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CGCTGGATGGCGTCCGTCTCG	0.493													T	10538718	C	T	10538718	3	4	272	1	0	0	0	0	1	0	0	0	10036	768	27	1	1732	1	MYH3	17	10538718	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	100274	10538718	70656492	1684	136795											
PMP22	5376	broad.mit.edu	37	chr17	15134388	15134388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggccgcagcactcatcAcgcacagacctggggaagga	13	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:15134388A>G	uc002goj.2	-	4	378	c.329T>C	c.(328-330)GTG>GCG	p.V110A	PMP22_uc002gok.2_Missense_Mutation_p.V110A|PMP22_uc002gol.2_Missense_Mutation_p.V110A	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	110	Helical; (By similarity).				peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGCACTCATCACGCACAGACC	0.622													G	15134388	A	G	15134388	3	3	272	1	0	0	0	0	1	0	0	0	12139	159	6	3	157	3	PMP22	17	15134388	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4595670	15134388	66060822	1685	136796											
TRPV2	51393	broad.mit.edu	37	chr17	16321122	16321122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagttccagggcgaggAccggaaattcgcccctcaga	12	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:16321122A>G	uc002gpy.2	+	2	507	c.140A>G	c.(139-141)GAC>GGC	p.D47G	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	47	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGGCGAGGACCGGAAATTC	0.587													G	16321122	A	G	16321122	3	3	272	1	0	0	0	0	1	0	0	0	16593	275	10	3	142	3	TRPV2	17	16321122	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1186734	16321122	64874088	1686	136797											
MED9	55090	broad.mit.edu	37	chr17	17394661	17394661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaagttccaggagatgcGcaagctcatcagcaccatgc	10	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:17394661G>A	uc002grh.1	+	2	349	c.293G>A	c.(292-294)CGC>CAC	p.R98H		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	98					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding				0						CAGGAGATGCGCAAGCTCATC	0.587													A	17394661	G	A	17394661	3	1	272	1	0	0	0	0	1	0	0	0	9454	1087	38	1	299	1	MED9	17	17394661	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1073539	17394661	63800549	1687	136798											
MYO15A	51168	broad.mit.edu	37	chr17	18023437	18023437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggaaccagaggacgcGggcgtagagcgtcaggggac	19	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18023437G>A	uc010vxh.1	+	2	1661	c.1323G>A	c.(1321-1323)GCG>GCA	p.A441A		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	441	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAGAGGACGCGGGCGTAGAGC	0.657													A	18023437	G	A	18023437	2	1	272	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18023437	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	628776	18023437	63171773	1688	136799											
MYO15A	51168	broad.mit.edu	37	chr17	18061119	18061119	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcccccgacttcctgCagctgccaacggagccaggc	11	18	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18061119C>T	uc010vxh.1	+	50	9210	c.8872C>T	c.(8872-8874)CAG>TAG	p.Q2958*	MYO15A_uc010vxi.1_Nonsense_Mutation_p.Q222*|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_5'UTR|MYO15A_uc002gsl.2_5'Flank|MYO15A_uc010vxm.1_5'Flank|MYO15A_uc002gsm.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2958	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CGACTTCCTGCAGCTGCCAAC	0.716													T	18061119	C	T	18061119	4	4	272	1	0	0	0	0	0	1	0	0	10063	711	25	2	9066	2	MYO15A	17	18061119	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	37682	18061119	63134091	1689	136800											
SMCR7	125170	broad.mit.edu	37	chr17	18167126	18167126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggccttcgagcgggaccGtgtgaccatcccagcagccc	13	16	0	1	rs151225748		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18167126G>A	uc002gst.2	+	4	624	c.413G>A	c.(412-414)CGT>CAT	p.R138H	SMCR7_uc002gsu.2_Silent_p.P113P|SMCR7_uc010vxq.1_Missense_Mutation_p.R149H	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	138						integral to membrane	protein binding				0	all_neural(463;0.228)					GAGCGGGACCGTGTGACCATC	0.632													A	18167126	G	A	18167126	3	1	272	1	0	0	0	0	1	0	0	0	14790	1145	40	1	460	1	SMCR7	17	18167126	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	106007	18167126	63028084	1690	136801											
TOP3A	7156	broad.mit.edu	37	chr17	18181478	18181478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcagcaggctgggggtGctggctgttgtccatcctgt	16	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18181478G>A	uc002gsx.1	-	18	2567	c.2338C>T	c.(2338-2340)CAC>TAC	p.H780Y	TOP3A_uc010cpz.1_Missense_Mutation_p.H232Y|TOP3A_uc010vxr.1_Missense_Mutation_p.H310Y|TOP3A_uc002gsw.1_Missense_Mutation_p.H232Y|TOP3A_uc010vxs.1_Missense_Mutation_p.H678Y	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	780					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GGCTGGGGGTGCTGGCTGTTG	0.632													A	18181478	G	A	18181478	3	1	272	1	0	0	0	0	1	0	0	0	16364	1319	46	2	675	2	TOP3A	17	18181478	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	14352	18181478	63013732	1691	136802											
SMCR8	140775	broad.mit.edu	37	chr17	18219833	18219833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtggagaagtccatcAttgaacatcaagacctgctg	10	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18219833A>G	uc002gsy.3	+	1	1240	c.730A>G	c.(730-732)ATT>GTT	p.I244V		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	244										central_nervous_system(1)	1						GAAGTCCATCATTGAACATCA	0.483													G	18219833	A	G	18219833	3	3	272	1	0	0	0	0	1	0	0	0	14792	217	8	3	732	3	SMCR8	17	18219833	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	38355	18219833	62975377	1692	136803											
FAM83G	644815	broad.mit.edu	37	chr17	18881428	18881428	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaatatcactgctgtcccgGgctagtacatctgccacagg	9	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18881428G>T	uc002guw.2	-	5	1718	c.1551C>A	c.(1549-1551)GCC>GCA	p.A517A	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	517										ovary(1)|central_nervous_system(1)	2						TGCTGTCCCGGGCTAGTACAT	0.652													T	18881428	G	T	18881428	2	4	272	1	0	0	0	0	0	0	0	1	5639	1219	43	5		5	FAM83G	17	18881428	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	661595	18881428	62313782	1693	136804											
ALDH3A1	218	broad.mit.edu	37	chr17	19643782	19643782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttcttagcatcttccccGtagaactcctgtggagaaga	9	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:19643782G>A	uc010cqu.2	-	6	1146	c.816C>T	c.(814-816)TAC>TAT	p.Y272Y	ALDH3A1_uc010vzd.1_Silent_p.Y272Y|ALDH3A1_uc002gwj.2_Silent_p.Y272Y|ALDH3A1_uc010cqv.2_Silent_p.Y271Y|ALDH3A1_uc002gwk.2_Silent_p.Y389Y|ALDH3A1_uc002gwl.1_Silent_p.Y199Y	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	272					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATCTTCCCCGTAGAACTCCT	0.527													A	19643782	G	A	19643782	2	1	272	1	0	0	0	0	0	0	0	1	497	1140	40	1		1	ALDH3A1	17	19643782	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	762354	19643782	61551428	1694	136805											
ULK2	9706	broad.mit.edu	37	chr17	19720076	19720076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcacatgagtggtctgacGagatgttgtgtggcaccaaa	12	8	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:19720076G>A	uc002gwm.3	-	13	1591	c.1082C>T	c.(1081-1083)TCG>TTG	p.S361L	ULK2_uc002gwn.2_Missense_Mutation_p.S361L	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	361					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTGGTCTGACGAGATGTTGTG	0.368													A	19720076	G	A	19720076	3	1	272	1	0	0	0	0	1	0	0	0	16973	1059	37	1	2088	1	ULK2	17	19720076	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	76294	19720076	61475134	1695	136806											
WSB1	26118	broad.mit.edu	37	chr17	25630429	25630429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgttaccaattcaagCagtttaagattgccaagaca	7	7	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:25630429C>T	uc002gzd.1	+	3	562	c.246C>T	c.(244-246)AGC>AGT	p.S82S	WSB1_uc010vzy.1_Silent_p.S82S|WSB1_uc010vzz.1_Silent_p.S51S|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	82					intracellular signal transduction	intracellular	protein binding				0	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)		CCAATTCAAGCAGTTTAAGAT	0.403													T	25630429	C	T	25630429	2	4	272	1	0	0	0	0	0	0	0	1	17401	709	25	2		2	WSB1	17	25630429	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5910353	25630429	55564781	1696	136807											
SLC13A2	9058	broad.mit.edu	37	chr17	26823498	26823498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctccaccctctctacGtcatgctcccctgcactctg	5	20	4	0	rs149423247	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:26823498G>A	uc002hbh.2	+	11	1568	c.1501G>A	c.(1501-1503)GTC>ATC	p.V501I	SLC13A2_uc010wam.1_Missense_Mutation_p.V457I|SLC13A2_uc010wan.1_Missense_Mutation_p.V550I|SLC13A2_uc010wao.1_Missense_Mutation_p.V458I|SLC13A2_uc002hbi.2_Missense_Mutation_p.V430I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	501	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCTCTCTACGTCATGCTCCC	0.632													A	26823498	G	A	26823498	3	1	272	1	0	0	0	0	1	0	0	0	14392	1145	40	1	1690	1	SLC13A2	17	26823498	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1193069	26823498	54371712	1697	136808											
KIAA0100	9703	broad.mit.edu	37	chr17	26942731	26942731	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttgacagccatggcaaagTctagccatgtccatgtgttg	10	9	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:26942731T>A	uc002hbu.2	-	38	6575	c.6476A>T	c.(6475-6477)GAC>GTC	p.D2159V	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D488V	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2159						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CATGGCAAAGTCTAGCCATGT	0.572													A	26942731	T	A	26942731	3	1	272	1	0	0	0	0	1	0	0	0	8154	1667	58	5	239	5	KIAA0100	17	26942731	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	119233	26942731	54252479	1698	136809											
C17orf63	55731	broad.mit.edu	37	chr17	27086286	27086286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgagtctggcatcttccGgcctccatgcagcaagggat	11	12	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27086286G>A	uc002hct.1	-	3	958	c.691C>T	c.(691-693)CGG>TGG	p.R231W	C17orf63_uc010wax.1_Missense_Mutation_p.R231W|C17orf63_uc010way.1_Missense_Mutation_p.R231W|C17orf63_uc002hcw.2_Missense_Mutation_p.R103W	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	231										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			GGCATCTTCCGGCCTCCATGC	0.637													A	27086286	G	A	27086286	3	1	272	1	0	0	0	0	1	0	0	0	1871	1115	39	1		1	C17orf63	17	27086286	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	143555	27086286	54108924	1699	136810											
MYO18A	399687	broad.mit.edu	37	chr17	27448654	27448654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggctagcgccatagcGctggcgcaaggtgtgcagga	16	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27448654G>A	uc002hdt.1	-	5	1440	c.1282C>T	c.(1282-1284)CGC>TGC	p.R428C	MYO18A_uc010wbc.1_5'UTR|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.R428C|MYO18A_uc002hdu.1_Missense_Mutation_p.R428C|MYO18A_uc010wbd.1_Missense_Mutation_p.R97C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	428	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			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)			GCGCCATAGCGCTGGCGCAAG	0.637													A	27448654	G	A	27448654	3	1	272	1	0	0	0	0	1	0	0	0	10065	1087	38	1	5034	1	MYO18A	17	27448654	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	362368	27448654	53746556	1700	136811											
NUFIP2	57532	broad.mit.edu	37	chr17	27614057	27614057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcatgctttcctttggGccgatcatcaaactttttgc	8	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27614057G>A	uc002hdy.3	-	2	1044	c.955C>T	c.(955-957)CCC>TCC	p.P319S	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	319						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTTCCTTTGGGCCGATCATCA	0.478													A	27614057	G	A	27614057	3	1	272	1	0	0	0	0	1	0	0	0	10749	1203	42	2	1144	2	NUFIP2	17	27614057	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	165403	27614057	53581153	1701	136812											
TAOK1	57551	broad.mit.edu	37	chr17	27825386	27825386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttaatagtgttggaagTaatcaatccattcccagcat	7	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27825386T>C	uc002hdz.1	+	12	1244	c.1050T>C	c.(1048-1050)AGT>AGC	p.S350S	TAOK1_uc010wbe.1_Silent_p.S350S|TAOK1_uc010wbf.1_Silent_p.S350S|TAOK1_uc002heb.1_Silent_p.S176S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	350	Ser-rich.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GTGTTGGAAGTAATCAATCCA	0.413													C	27825386	T	C	27825386	2	2	272	1	0	0	0	0	0	0	0	1	15544	1635	57	3		3	TAOK1	17	27825386	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	211329	27825386	53369824	1702	136813											
ADAP2	55803	broad.mit.edu	37	chr17	29253876	29253876	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggaaacctccgtgtgaAggccaagttcgaagccagag	12	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:29253876A>C	uc002hfx.2	+	3	536	c.257A>C	c.(256-258)AAG>ACG	p.K86T	ADAP2_uc010csk.2_Missense_Mutation_p.K92T|ADAP2_uc002hfy.2_Missense_Mutation_p.K86T|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	86	Arf-GAP.				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)		ovary(1)	1						CTCCGTGTGAAGGCCAAGTTC	0.488													C	29253876	A	C	29253876	3	2	272	1	0	0	0	0	1	0	0	0	280	72	3	5	267	5	ADAP2	17	29253876	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1428490	29253876	51941334	1703	136814											
NF1	4763	broad.mit.edu	37	chr17	29687688	29687688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttaacctttctaattccAtgacctcacttgcaacttcc	2	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:29687688A>G	uc002hgg.2	+	57	8677	c.8344A>G	c.(8344-8346)ATG>GTG	p.M2782V	NF1_uc002hgh.2_Missense_Mutation_p.M2761V|NF1_uc010cso.2_Missense_Mutation_p.M970V|NF1_uc010wbt.1_Missense_Mutation_p.M260V|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2782					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			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		TTCTAATTCCATGACCTCACT	0.443			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)			G	29687688	A	G	29687688	3	3	272	1	0	0	0	0	1	0	0	0	10356	217	8	3	8631	3	NF1	17	29687688	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	433812	29687688	51507522	1704	136815											
ZNF830	91603	broad.mit.edu	37	chr17	33289326	33289326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgcggaagcgttaccGgaaggtttttttgacgaccc	11	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:33289326G>A	uc002hih.3	+	1	778	c.741G>A	c.(739-741)CCG>CCA	p.P247P	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	247					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				AAGCGTTACCGGAAGGTTTTT	0.458													A	33289326	G	A	33289326	2	1	272	1	0	0	0	0	0	0	0	1	18181	1103	39	1		1	ZNF830	17	33289326	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3601638	33289326	47905884	1705	136816											
LIG3	3980	broad.mit.edu	37	chr17	33331364	33331364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacttcagccgtctcagaCgctactttgtggcattcgac	9	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:33331364C>T	uc002hik.1	+	20	2977	c.2869C>T	c.(2869-2871)CGC>TGC	p.R957C	uc002hil.2_5'Flank	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	957	BRCT.				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			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	CCGTCTCAGACGCTACTTTGT	0.577								Other_BER_factors					T	33331364	C	T	33331364	3	4	272	1	0	0	0	0	1	0	0	0	8782	536	19	1	3001	1	LIG3	17	33331364	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	42038	33331364	47863846	1706	136817											
GPR179	440435	broad.mit.edu	37	chr17	36485820	36485820	+	Frame_Shift_Del	DEL	T	T	-													tttcttttgattgcttgatgTttttgtccctggaaacttgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36485819_36485819GT>G	uc002hpz.3	-	10	3654	c.3633_3633AC>C	c.(3631-3633)aacfs	p.N1211fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1211						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)				ATTGCTTGATGTTTTTGTCCC	0.572													-	36485820	T	-	36485820	7	5	272	1	0	1	0	1	0	0	0	0	6674	1725	60	0	3475	0	GPR179	17	36485820	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3154456	36485820	44709390	1707	136818											
SOCS7	30837	broad.mit.edu	37	chr17	36520674	36520674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtggacatttctcagcGgggcctgacctctccacacc	11	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36520674G>A	uc002hqa.2	+	3	1016	c.893G>A	c.(892-894)CGG>CAG	p.R298Q	SOCS7_uc010cvl.2_Missense_Mutation_p.R298Q|SOCS7_uc002hqb.2_RNA	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	298	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					ATTTCTCAGCGGGGCCTGACC	0.547													A	36520674	G	A	36520674	3	1	272	1	0	0	0	0	1	0	0	0	14919	1116	39	1	903	1	SOCS7	17	36520674	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	34854	36520674	44674536	1708	136819											
SRCIN1	80725	broad.mit.edu	37	chr17	36708254	36708254	+	Frame_Shift_Del	DEL	G	G	-													tgcaggttcagcggggggctGgggggtggcatttcgaagtc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36708253_36708253TG>T	uc002hqd.3	-	13	2821	c.2596_2596CA>A	c.(2596-2598)agcfs	p.S866fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.S738fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.S720fs|SRCIN1_uc002hqg.3_Frame_Shift_Del_p.S172fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	738	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCGGGGGGCTGGGGGGTGGC	0.617													-	36708254	G	-	36708254	7	5	272	1	0	1	0	1	0	0	0	0	15135	1335	47	0	980	0	SRCIN1	17	36708254	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	187580	36708254	44486956	1709	136820											
MLLT6	4302	broad.mit.edu	37	chr17	36865453	36865453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctgcgaggagcagggcCgggagagcaaggcggcctcg	18	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36865453C>T	uc002hqi.3	+	5	395	c.382C>T	c.(382-384)CGG>TGG	p.R128W	MLLT6_uc010wdr.1_Missense_Mutation_p.R128W|MLLT6_uc010cvm.1_Missense_Mutation_p.R128W	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	128	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GGAGCAGGGCCGGGAGAGCAA	0.632			T	MLL	AL								T	36865453	C	T	36865453	3	4	272	1	0	0	0	0	1	0	0	0	9630	643	23	1	400	1	MLLT6	17	36865453	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	157199	36865453	44329757	1710	136821											
PSMB3	5691	broad.mit.edu	37	chr17	36916769	36916769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgctctctagacctcatcGgctgccccatggtgactgat	9	13	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36916769G>A	uc002hqr.2	+	4	460	c.382G>A	c.(382-384)GGC>AGC	p.G128S		NM_002795	NP_002786	P49720	PSB3_HUMAN	proteasome beta 3 subunit	128					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				0						AGACCTCATCGGCTGCCCCAT	0.557													A	36916769	G	A	36916769	3	1	272	1	0	0	0	0	1	0	0	0	12678	1116	39	1	396	1	PSMB3	17	36916769	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	51316	36916769	44278441	1711	136822											
STARD3	10948	broad.mit.edu	37	chr17	37809851	37809851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgccgtggcctccctgGgctcctcactgtcccacagc	10	19	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:37809851G>T	uc002hsd.2	+	2	191	c.67G>T	c.(67-69)GGC>TGC	p.G23C	STARD3_uc010weg.1_Missense_Mutation_p.G23C|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.G23C|STARD3_uc010wei.1_Missense_Mutation_p.G23C|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	23	Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	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)			GGCCTCCCTGGGCTCCTCACT	0.682											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	37809851	G	T	37809851	3	4	272	1	0	0	0	0	1	0	0	0	15256	1232	43	5	69	5	STARD3	17	37809851	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	893082	37809851	43385359	1712	136823											
SMARCE1	6605	broad.mit.edu	37	chr17	38785239	38785239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtttcttcaaggtgtGtctcctctgtaatcacacat	7	10	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:38785239G>A	uc002hux.2	-	11	1158	c.1034C>T	c.(1033-1035)ACA>ATA	p.T345I	SMARCE1_uc010wff.1_3'UTR|SMARCE1_uc010wfg.1_3'UTR|SMARCE1_uc002huy.2_Missense_Mutation_p.T310I|SMARCE1_uc010wfh.1_Missense_Mutation_p.T275I|SMARCE1_uc010wfi.1_Missense_Mutation_p.T327I	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	345	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				TTCAAGGTGTGTCTCCTCTGT	0.398													A	38785239	G	A	38785239	3	1	272	1	0	0	0	0	1	0	0	0	14780	1377	48	4	205	4	SMARCE1	17	38785239	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	975388	38785239	42409971	1713	136824											
KRT28	162605	broad.mit.edu	37	chr17	38955184	38955184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttactttagcctgaaatcaTcagcagccagtctggcatta	7	11	3	1	rs148946166		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:38955184T>C	uc002hvh.1	-	2	584	c.518A>G	c.(517-519)GAT>GGT	p.D173G		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	173	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CCTGAAATCATCAGCAGCCAG	0.318													C	38955184	T	C	38955184	3	2	272	1	0	0	0	0	1	0	0	0	8465	1435	50	3	904	3	KRT28	17	38955184	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	169945	38955184	42240026	1714	136825											
KRT20	54474	broad.mit.edu	37	chr17	39034445	39034445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagtagcaatttcctgtTcaagtcgagtctttatgtca	9	7	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39034445T>C	uc002hvl.2	-	6	1133	c.1091A>G	c.(1090-1092)GAA>GGA	p.E364G		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	364	Rod.|Coil 2.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				AATTTCCTGTTCAAGTCGAGT	0.443													C	39034445	T	C	39034445	3	2	272	1	0	0	0	0	1	0	0	0	8458	1783	62	3	195	3	KRT20	17	39034445	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	79261	39034445	42160765	1715	136826											
KRT34	3885	broad.mit.edu	37	chr17	39535427	39535427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtgttttccagagagtctCgctgtggtggggaagatcag	16	7	2	2	rs140889696		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39535427C>T	uc002hwm.2	-	6	1016	c.1004G>A	c.(1003-1005)CGA>CAA	p.R335Q		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	335	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				CAGAGAGTCTCGCTGTGGTGG	0.547													T	39535427	C	T	39535427	3	4	272	1	0	0	0	0	1	0	0	0	8471	898	31	1	314	1	KRT34	17	39535427	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	500982	39535427	41659783	1716	136827											
KRT13	3860	broad.mit.edu	37	chr17	39659656	39659656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcaggccgttgatgtcGgcctccacgctctggcgcag	15	15	1	1	rs147005767		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39659656G>A	uc002hwu.1	-	3	681	c.618C>T	c.(616-618)GCC>GCT	p.A206A	KRT13_uc002hwv.1_Silent_p.A206A|KRT13_uc002hww.2_Silent_p.A99A|KRT13_uc010wfr.1_Silent_p.A99A|KRT13_uc010cxo.2_Silent_p.A206A|KRT13_uc002hwx.1_Silent_p.A194A	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	206	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				CGTTGATGTCGGCCTCCACGC	0.468													A	39659656	G	A	39659656	2	1	272	1	0	0	0	0	0	0	0	1	8450	1103	39	1		1	KRT13	17	39659656	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	124229	39659656	41535554	1717	136828											
KRT9	3857	broad.mit.edu	37	chr17	39728026	39728026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccagatcctccgccGtagctgtagccaaaactgcc	7	19	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39728026G>A	uc002hxe.3	-	1	285	c.219C>T	c.(217-219)TAC>TAT	p.Y73Y	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	73	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				ATCCTCCGCCGTAGCTGTAGC	0.418													A	39728026	G	A	39728026	2	1	272	1	0	0	0	0	0	0	0	1	8501	1140	40	1		1	KRT9	17	39728026	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	68370	39728026	41467184	1718	136829											
STAT5B	6777	broad.mit.edu	37	chr17	40370880	40370880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggttctgccagatgatctCggccaacttctcacacctgc	8	16	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40370880C>T	uc002hzh.2	-	8	1019	c.850G>A	c.(850-852)GAG>AAG	p.E284K	STAT5B_uc002hzi.3_Missense_Mutation_p.E284K	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	284	Required for interaction with NMI.				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			ovary(3)|lung(2)|skin(1)	6		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)	CAGATGATCTCGGCCAACTTC	0.652													T	40370880	C	T	40370880	3	4	272	1	0	0	0	0	1	0	0	0	15268	893	31	1	1561	1	STAT5B	17	40370880	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	642854	40370880	40824330	1719	136830											
HSD17B1	3292	broad.mit.edu	37	chr17	40705464	40705464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctccgcagtgtgtaaCgcaggcctgggcctgctggg	15	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40705464C>T	uc002hzw.2	+	3	1241	c.273C>T	c.(271-273)AAC>AAT	p.N91N	HSD17B1_uc002hzx.2_Silent_p.N91N|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.A39A|HSD17B1_uc010cyi.2_Silent_p.N122N	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	91					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	CAGTGTGTAACGCAGGCCTGG	0.672													T	40705464	C	T	40705464	2	4	272	1	0	0	0	0	0	0	0	1	7378	535	19	1		1	HSD17B1	17	40705464	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	334584	40705464	40489746	1720	136831											
MLX	6945	broad.mit.edu	37	chr17	40721591	40721591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtgtccacgttacGcaaggatgtcaccgccctaa	13	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40721591G>A	uc002iag.2	+	6	670	c.605G>A	c.(604-606)CGC>CAC	p.R202H	MLX_uc002iaf.2_Missense_Mutation_p.R148H|MLX_uc002iah.2_Missense_Mutation_p.R118H	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	202					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCCACGTTACGCAAGGATGTC	0.493													A	40721591	G	A	40721591	3	1	272	1	0	0	0	0	1	0	0	0	9635	1087	38	1	627	1	MLX	17	40721591	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	16127	40721591	40473619	1721	136832											
WNK4	65266	broad.mit.edu	37	chr17	40947524	40947524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggggaagccaggctgGcgcccatctctgaaggtaag	14	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40947524G>A	uc002ibj.2	+	15	3028	c.3007G>A	c.(3007-3009)GCG>ACG	p.A1003T	WNK4_uc010wgx.1_Missense_Mutation_p.A667T|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1003					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCCAGGCTGGCGCCCATCTC	0.592													A	40947524	G	A	40947524	3	1	272	1	0	0	0	0	1	0	0	0	17377	1203	42	2	3065	2	WNK4	17	40947524	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	225933	40947524	40247686	1722	136833											
BECN1	8678	broad.mit.edu	37	chr17	40970692	40970692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgatgtcaaaaaggtcccCagtgacctggaagtgtggga	13	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40970692C>A	uc002ibo.3	-	6	493	c.358G>T	c.(358-360)GGG>TGG	p.G120W	BECN1_uc010whb.1_Missense_Mutation_p.G33W|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.G120W	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	120					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		AAAAGGTCCCCAGTGACCTGG	0.552													A	40970692	C	A	40970692	3	1	272	1	0	0	0	0	1	0	0	0	1396	594	21	5	1022	5	BECN1	17	40970692	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	23168	40970692	40224518	1723	136834											
SOST	50964	broad.mit.edu	37	chr17	41835927	41835927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggaggccgccctccGttctccgcccggttcatggt	15	14	2	0	rs17883541		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:41835927G>A	uc002iec.1	-	1	230	c.183C>T	c.(181-183)AAC>AAT	p.N61N		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	61					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				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GCCGCCCTCCGTTCTCCGCCC	0.547													A	41835927	G	A	41835927	2	1	272	1	0	0	0	0	0	0	0	1	14938	1136	40	1		1	SOST	17	41835927	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	865235	41835927	39359283	1724	136835											
HDAC5	10014	broad.mit.edu	37	chr17	42169769	42169769	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcccggcacctgtgAtctcaacagctctcttctta	7	17	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42169769A>G	uc002ifd.1	-	8	1110	c.899T>C	c.(898-900)ATC>ACC	p.I300T	HDAC5_uc002ife.1_Missense_Mutation_p.I300T|HDAC5_uc002iff.1_Missense_Mutation_p.I301T|HDAC5_uc010czp.1_Missense_Mutation_p.I300T|HDAC5_uc002ifh.2_Missense_Mutation_p.I300T	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	300					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			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGCACCTGTGATCTCAACAGC	0.567													G	42169769	A	G	42169769	3	3	272	1	0	0	0	0	1	0	0	0	7010	333	12	3	2549	3	HDAC5	17	42169769	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	333842	42169769	39025441	1725	136836											
ATXN7L3	56970	broad.mit.edu	37	chr17	42272170	42272170	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaataaatccgtacggttcGcctctgctcatctgtgtgct	8	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42272170G>A	uc002iga.2	-	10	794	c.703C>T	c.(703-705)CGA>TGA	p.R235*	ATXN7L3_uc010wiv.1_Nonsense_Mutation_p.R17*|ATXN7L3_uc002ifz.2_Nonsense_Mutation_p.R242*	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	235	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				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTACGGTTCGCCTCTGCTCA	0.587													A	42272170	G	A	42272170	4	1	272	1	0	0	0	0	0	1	0	0	1218	1095	38	1	352	1	ATXN7L3	17	42272170	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	102401	42272170	38923040	1726	136837											
GPATCH8	23131	broad.mit.edu	37	chr17	42476843	42476843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctacttgagtaagaacGccgggaggaacgatgcgagg	16	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42476843G>A	uc002igw.1	-	8	2666	c.2602C>T	c.(2602-2604)CGT>TGT	p.R868C	GPATCH8_uc002igv.1_Missense_Mutation_p.R790C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R790C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	868	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAGTAAGAACGCCGGGAGGAA	0.537													A	42476843	G	A	42476843	3	1	272	1	0	0	0	0	1	0	0	0	6594	1087	38	1	1910	1	GPATCH8	17	42476843	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	204673	42476843	38718367	1727	136838											
GPATCH8	23131	broad.mit.edu	37	chr17	42501727	42501727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaactcacctgcttgtgtGcatgatcataggagttgata	9	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42501727G>T	uc002igw.1	-	6	546	c.482C>A	c.(481-483)GCA>GAA	p.A161E	GPATCH8_uc002igv.1_Missense_Mutation_p.A83E|GPATCH8_uc010wiz.1_Missense_Mutation_p.A83E	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	161						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGCTTGTGTGCATGATCATA	0.383													T	42501727	G	T	42501727	3	4	272	1	0	0	0	0	1	0	0	0	6594	1319	46	5	4038	5	GPATCH8	17	42501727	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	24884	42501727	38693483	1728	136839											
KIF18B	146909	broad.mit.edu	37	chr17	43011405	43011405	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtgcggcagttgcccccGagggagtctttgagcaggcg	16	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:43011405G>A	uc010wji.1	-	7	1049	c.948C>T	c.(946-948)CTC>CTT	p.L316L	KIF18B_uc002iht.2_Silent_p.L316L|KIF18B_uc010wjh.1_Silent_p.L316L	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				AGTTGCCCCCGAGGGAGTCTT	0.632													A	43011405	G	A	43011405	2	1	272	1	0	0	0	0	0	0	0	1	8281	1045	37	1		1	KIF18B	17	43011405	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	509678	43011405	38183805	1729	136840											
ACBD4	79777	broad.mit.edu	37	chr17	43214761	43214761	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagagcaggttgtgaatggaGatgttggggctgtttcagag	17	3	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:43214761G>A	uc002iid.2	+	6	786	c.442G>A	c.(442-444)GAT>AAT	p.D148N	ACBD4_uc010wjj.1_Missense_Mutation_p.D148N|ACBD4_uc002iie.2_Missense_Mutation_p.D148N|ACBD4_uc002iif.2_Missense_Mutation_p.D148N|ACBD4_uc002iic.2_Missense_Mutation_p.D148N|ACBD4_uc010dae.2_Missense_Mutation_p.D70N	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	148							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						TGTGAATGGAGATGTTGGGGC	0.612													A	43214761	G	A	43214761	3	1	272	1	0	0	0	0	1	0	0	0	124	942	33	4	460	4	ACBD4	17	43214761	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	203356	43214761	37980449	1730	136841											
KPNB1	3837	broad.mit.edu	37	chr17	45755696	45755696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactatgacatggtggattAtctgaatgagctaagggaaa	12	4	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:45755696A>G	uc002ilt.1	+	19	2606	c.2270A>G	c.(2269-2271)TAT>TGT	p.Y757C	KPNB1_uc010wkw.1_Missense_Mutation_p.Y612C|KPNB1_uc010wkx.1_Missense_Mutation_p.Y541C	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	757					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATGGTGGATTATCTGAATGAG	0.438													G	45755696	A	G	45755696	3	3	272	1	0	0	0	0	1	0	0	0	8435	449	16	3	2344	3	KPNB1	17	45755696	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2540935	45755696	35439514	1731	136842											
OSBPL7	114881	broad.mit.edu	37	chr17	45891907	45891908	+	Frame_Shift_Ins	INS	-	-	C													tttctgacagcgctcagctcINSccctgaggtccagcatctcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:45891906_45891907T>TC	uc002ilx.1	-	13	1534_1535	c.1331_1332A>GA	c.(1330-1332)ggafs	p.G444fs	OSBPL7_uc002ilw.1_Frame_Shift_Ins_p.G6fs	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	444					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						AGCGCTCAGCTCCCCTGAGGTC	0.629													C	45891908	-	C	45891907	7	5	272	1	0	1	1	0	0	0	0	0	11282	855	30	0	1237	0	OSBPL7	17	45891907	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	136211	45891907	35303303	1732	136843											
NGFR	4804	broad.mit.edu	37	chr17	47587858	47587858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccaggagcctgaggcacCtccagaacaagacctcatag	9	15	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:47587858C>A	uc002ioz.3	+	4	778	c.653C>A	c.(652-654)CCT>CAT	p.P218H		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	218	Ser/Thr-rich.|Extracellular (Potential).				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				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCTGAGGCACCTCCAGAACAA	0.642													A	47587858	C	A	47587858	3	1	272	1	0	0	0	0	1	0	0	0	10396	681	24	5	667	5	NGFR	17	47587858	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1695951	47587858	33607352	1733	136844											
ITGA3	3675	broad.mit.edu	37	chr17	48155490	48155490	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgcagctctccacGtgagtgacctcgaaaagcca	11	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48155490G>A	uc010dbl.2	+	17	2683	c.2219_splice	c.e17+1	p.T740_splice	ITGA3_uc010dbm.2_Splice_Site_p.T740_splice	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						AGCTCTCCACGTGAGTGACCT	0.582													A	48155490	G	A	48155490	5	1	272	1	0	0	0	0	0	0	1	0	7877	1159	40	1	2286	1	ITGA3	17	48155490	Splice_Site	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	567632	48155490	33039720	1734	136845											
ACSF2	80221	broad.mit.edu	37	chr17	48538177	48538177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggtcccagaacgagagGccttggtcgtcctccatgaa	13	11	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48538177G>A	uc002iqu.2	+	2	372	c.268G>A	c.(268-270)GCC>ACC	p.A90T	ACSF2_uc010wml.1_Missense_Mutation_p.A90T|ACSF2_uc010wmm.1_Missense_Mutation_p.A115T|ACSF2_uc010wmn.1_Missense_Mutation_p.A90T|ACSF2_uc010wmo.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	90					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGAACGAGAGGCCTTGGTCGT	0.562													A	48538177	G	A	48538177	3	1	272	1	0	0	0	0	1	0	0	0	175	1203	42	2	274	2	ACSF2	17	48538177	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	382687	48538177	32657033	1735	136846											
MYCBPAP	84073	broad.mit.edu	37	chr17	48598516	48598516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccgctacacctgggatcGgagtctgtttctgatctacc	9	12	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48598516G>A	uc010wmr.1	+	8	1253	c.1091G>A	c.(1090-1092)CGG>CAG	p.R364Q	MYCBPAP_uc002iqx.2_Missense_Mutation_p.R364Q|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	327					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACCTGGGATCGGAGTCTGTTT	0.562													A	48598516	G	A	48598516	3	1	272	1	0	0	0	0	1	0	0	0	10019	1116	39	1	1121	1	MYCBPAP	17	48598516	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	60339	48598516	32596694	1736	136847											
SPATA20	64847	broad.mit.edu	37	chr17	48627954	48627954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatcctgcagtacgtggctCggagcctgagccaccgggtg	15	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48627954C>T	uc002irf.2	+	9	1249	c.1108C>T	c.(1108-1110)CGG>TGG	p.R370W	SPATA20_uc002irc.2_Missense_Mutation_p.R37W|SPATA20_uc002ire.2_Missense_Mutation_p.R326W|SPATA20_uc002ird.2_Missense_Mutation_p.R386W|SPATA20_uc010wmv.1_Silent_p.L426L|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	370					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTACGTGGCTCGGAGCCTGAG	0.612											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48627954	C	T	48627954	3	4	272	1	0	0	0	0	1	0	0	0	15005	875	31	1	1194	1	SPATA20	17	48627954	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	29438	48627954	32567256	1737	136848											
CACNA1G	8913	broad.mit.edu	37	chr17	48696324	48696324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggctctgcacccagcGgcccacgcgagatcagcctc	12	18	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48696324G>A	uc002irk.1	+	33	6108	c.5736G>A	c.(5734-5736)GCG>GCA	p.A1912A	CACNA1G_uc002irj.1_Silent_p.A1878A|CACNA1G_uc002irl.1_Silent_p.A1889A|CACNA1G_uc002irm.1_Silent_p.A1878A|CACNA1G_uc002irn.1_Silent_p.A1871A|CACNA1G_uc002iro.1_Silent_p.A1878A|CACNA1G_uc002irp.1_Silent_p.A1912A|CACNA1G_uc002irq.1_Silent_p.A1889A|CACNA1G_uc002irr.1_Silent_p.A1912A|CACNA1G_uc002irs.1_Silent_p.A1901A|CACNA1G_uc002irt.1_Silent_p.A1894A|CACNA1G_uc002irv.1_Silent_p.A1901A|CACNA1G_uc002irw.1_Silent_p.A1889A|CACNA1G_uc002iru.1_Silent_p.A1878A|CACNA1G_uc002irx.1_Silent_p.A1825A|CACNA1G_uc002iry.1_Silent_p.A1814A|CACNA1G_uc002irz.1_Silent_p.A1818A|CACNA1G_uc002isa.1_Silent_p.A1791A|CACNA1G_uc002isb.1_Silent_p.A1832A|CACNA1G_uc002isc.1_Silent_p.A1814A|CACNA1G_uc002isd.1_Silent_p.A1800A|CACNA1G_uc002ise.1_Silent_p.A1780A|CACNA1G_uc002isf.1_Silent_p.A1807A|CACNA1G_uc002isg.1_Silent_p.A1773A|CACNA1G_uc002ish.1_Silent_p.A1780A|CACNA1G_uc002isi.1_Silent_p.A1768A	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1912	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	TGCACCCAGCGGCCCACGCGA	0.716													A	48696324	G	A	48696324	2	1	272	1	0	0	0	0	0	0	0	1	2544	1103	39	1		1	CACNA1G	17	48696324	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	68370	48696324	32498886	1738	136849											
SPAG9	9043	broad.mit.edu	37	chr17	49074033	49074033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcttttgttctctgcGtgaggctaaactagcttcag	8	11	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:49074033G>A	uc002itc.2	-	16	2070	c.1861C>T	c.(1861-1863)CGC>TGC	p.R621C	SPAG9_uc002itb.2_Missense_Mutation_p.R607C|SPAG9_uc002itd.2_Missense_Mutation_p.R611C|SPAG9_uc002itf.2_Missense_Mutation_p.R442C|SPAG9_uc002ita.2_Missense_Mutation_p.R464C|SPAG9_uc002ite.2_Missense_Mutation_p.R451C	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	621					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGTTCTCTGCGTGAGGCTAAA	0.408													A	49074033	G	A	49074033	3	1	272	1	0	0	0	0	1	0	0	0	14985	1145	40	1	2164	1	SPAG9	17	49074033	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	377709	49074033	32121177	1739	136850											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	272	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	7361128	56435161	24760049	1740	136851											
MTMR4	9110	broad.mit.edu	37	chr17	56585913	56585913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcctcctgtcgacaaCgtatgtgctcacctgcaaca	8	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:56585913C>T	uc002iwj.2	-	7	577	c.467G>A	c.(466-468)CGT>CAT	p.R156H		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	156	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTCGACAACGTATGTGCTC	0.547													T	56585913	C	T	56585913	3	4	272	1	0	0	0	0	1	0	0	0	9946	536	19	1	3172	1	MTMR4	17	56585913	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	150752	56585913	24609297	1741	136852											
TEX14	56155	broad.mit.edu	37	chr17	56650604	56650604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggtgttttgcatgaaGcttccttaaaagagctgtct	10	6	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:56650604G>T	uc010dcz.1	-	24	3705	c.3587C>A	c.(3586-3588)GCT>GAT	p.A1196D	TEX14_uc002iwr.1_Missense_Mutation_p.A1190D|TEX14_uc002iws.1_Missense_Mutation_p.A1150D|TEX14_uc010dda.1_Missense_Mutation_p.A930D	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1196						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGCATGAAGCTTCCTTAAA	0.433													T	56650604	G	T	56650604	3	4	272	1	0	0	0	0	1	0	0	0	15775	971	34	5	946	5	TEX14	17	56650604	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	64691	56650604	24544606	1742	136853											
TRIM37	4591	broad.mit.edu	37	chr17	57126657	57126657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatgcagacttcttagctCgtgtctccagagcatcatca	8	12	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:57126657C>T	uc002iwy.3	-	15	1856	c.1412G>A	c.(1411-1413)CGA>CAA	p.R471Q	TRIM37_uc002iwz.3_Missense_Mutation_p.R471Q|TRIM37_uc002ixa.3_Missense_Mutation_p.R349Q|TRIM37_uc010woc.1_Missense_Mutation_p.R437Q	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	471						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTCTTAGCTCGTGTCTCCAG	0.453									Mulibrey_Nanism				T	57126657	C	T	57126657	3	4	272	1	0	0	0	0	1	0	0	0	16508	884	31	1	1530	1	TRIM37	17	57126657	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	476053	57126657	24068553	1743	136854											
C17orf71	55181	broad.mit.edu	37	chr17	57287657	57287657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttcctctctttcgccAccaagatcctggggatccag	9	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:57287657A>G	uc002ixi.2	+	1	287	c.245A>G	c.(244-246)CAC>CGC	p.H82R		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	82					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTCTTTCGCCACCAAGATCCT	0.602													G	57287657	A	G	57287657	3	3	272	1	0	0	0	0	1	0	0	0	1878	159	6	3	247	3	C17orf71	17	57287657	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	161000	57287657	23907553	1744	136855											
USP32	84669	broad.mit.edu	37	chr17	58260599	58260599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgtcctcttccccagcCgaactctgcgcatccacttt	6	18	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:58260599C>T	uc002iyo.1	-	31	4336	c.4050G>A	c.(4048-4050)TCG>TCA	p.S1350S	USP32_uc002iyn.1_Silent_p.S1020S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1350					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTCCCCAGCCGAACTCTGCG	0.592													T	58260599	C	T	58260599	2	4	272	1	0	0	0	0	0	0	0	1	17060	639	23	1		1	USP32	17	58260599	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	972942	58260599	22934611	1745	136856											
MRC2	9902	broad.mit.edu	37	chr17	60767091	60767091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccgagggctgcgcacGccgctctggattgggctggc	17	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:60767091G>A	uc002jad.2	+	24	3945	c.3543G>A	c.(3541-3543)ACG>ACA	p.T1181T	MRC2_uc002jae.2_Silent_p.T252T|MRC2_uc002jaf.2_Intron	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1181	Extracellular (Potential).|C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGCTGCGCACGCCGCTCTGGA	0.706													A	60767091	G	A	60767091	2	1	272	1	0	0	0	0	0	0	0	1	9758	1074	38	1		1	MRC2	17	60767091	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2506492	60767091	20428119	1746	136857											
TANC2	26115	broad.mit.edu	37	chr17	61498449	61498449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttccacagcgaccttcCtcagcataccgaggtggcgt	10	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:61498449C>T	uc002jal.3	+	25	5129	c.5106C>T	c.(5104-5106)TCC>TCT	p.S1702S	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.S813S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1702							binding			ovary(2)	2						AGCGACCTTCCTCAGCATACC	0.562													T	61498449	C	T	61498449	2	4	272	1	0	0	0	0	0	0	0	1	15542	668	24	4		4	TANC2	17	61498449	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	731358	61498449	19696761	1747	136858											
LIMD2	80774	broad.mit.edu	37	chr17	61776056	61776056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaactccccgtgcagcgcGgcgtagctgcccaggctgca	13	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:61776056G>A	uc002jbj.3	-	5	418	c.240C>T	c.(238-240)GCC>GCT	p.A80A	LIMD2_uc002jbk.3_Missense_Mutation_p.R82C|LIMD2_uc002jbl.3_Silent_p.A80A	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	80	LIM zinc-binding.						zinc ion binding				0						CGTGCAGCGCGGCGTAGCTGC	0.433													A	61776056	G	A	61776056	2	1	272	1	0	0	0	0	0	0	0	1	8799	1103	39	1		1	LIMD2	17	61776056	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	277607	61776056	19419154	1748	136859											
LIMD2	80774	broad.mit.edu	37	chr17	61776626	61776626	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggcacttacatgagagggGgtggcctgggcggctcctgc	18	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:61776626G>T	uc002jbj.3	-	2	211	c.33C>A	c.(31-33)ACC>ACA	p.T11T	LIMD2_uc002jbk.3_5'UTR|LIMD2_uc002jbl.3_Silent_p.T11T	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	11							zinc ion binding				0						CATGAGAGGGGGTGGCCTGGG	0.672													T	61776626	G	T	61776626	2	4	272	1	0	0	0	0	0	0	0	1	8799	1219	43	5		5	LIMD2	17	61776626	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	570	61776626	19418584	1749	136860											
ERN1	2081	broad.mit.edu	37	chr17	62144199	62144199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacataaaaggccaccacaGgggaggcgtagttttggatc	13	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:62144199G>T	uc002jdz.2	-	8	787	c.674C>A	c.(673-675)CCT>CAT	p.P225H		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	225	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						GGCCACCACAGGGGAGGCGTA	0.552													T	62144199	G	T	62144199	3	4	272	1	0	0	0	0	1	0	0	0	5237	1000	35	5	2319	5	ERN1	17	62144199	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	367573	62144199	19051011	1750	136861											
PRKCA	5578	broad.mit.edu	37	chr17	64683346	64683346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaaccaaaaccatccGctccacactaaatccgcagt	4	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:64683346G>A	uc002jfp.1	+	6	691	c.647G>A	c.(646-648)CGC>CAC	p.R216H	PRKCA_uc002jfo.1_Missense_Mutation_p.R87H	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	216	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			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AAAACCATCCGCTCCACACTA	0.423													A	64683346	G	A	64683346	3	1	272	1	0	0	0	0	1	0	0	0	12507	1087	38	1	669	1	PRKCA	17	64683346	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2539147	64683346	16511864	1751	136862											
CACNG1	786	broad.mit.edu	37	chr17	65052273	65052273	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtcctttgcctgcgcCtgtgccgccttcatcctcct	8	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:65052273C>A	uc002jfu.2	+	4	626	c.555C>A	c.(553-555)GCC>GCA	p.A185A		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	185	Helical; (Potential).				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	TTGCCTGCGCCTGTGCCGCCT	0.602													A	65052273	C	A	65052273	2	1	272	1	0	0	0	0	0	0	0	1	2556	668	24	5		5	CACNG1	17	65052273	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	368927	65052273	16142937	1752	136863											
HELZ	9931	broad.mit.edu	37	chr17	65163599	65163599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgtgtcacagtcaggccGaagattaagttcttcacagc	10	10	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:65163599G>A	uc010wqk.1	-	14	1931	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R582W	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGTCAGGCCGAAGATTAAGT	0.388													A	65163599	G	A	65163599	3	1	272	1	0	0	0	0	1	0	0	0	7049	1057	37	1	4164	1	HELZ	17	65163599	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	111326	65163599	16031611	1753	136864											
ABCA9	10350	broad.mit.edu	37	chr17	67012397	67012397	+	Frame_Shift_Del	DEL	A	A	-													gatataattatacttacttcAaaaaatgtgcttctgtcagt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:67012396_67012396CA>C	uc002jhu.3	-	21	3180	c.3037_3037TG>G	c.(3037-3039)gaafs	p.E1013fs	ABCA9_uc010dez.3_Frame_Shift_Del_p.E1013fs	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1013					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)					ATACTTACTTCAAAAAATGTG	0.308													-	67012397	A	-	67012397	7	5	272	1	0	1	0	1	0	0	0	0	39	127	5	0	1910	0	ABCA9	17	67012397	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1848798	67012397	14182813	1754	136865											
SLC39A11	201266	broad.mit.edu	37	chr17	70845904	70845904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaggccagtggctgccGccttctttctctgatatgcc	11	13	2	1	rs143231715		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:70845904G>A	uc002jjb.2	-	6	606	c.491C>T	c.(490-492)GCG>GTG	p.A164V	SLC39A11_uc002jja.2_Missense_Mutation_p.A157V|SLC39A11_uc002jjc.1_Missense_Mutation_p.A157V	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	164					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						AGTGGCTGCCGCCTTCTTTCT	0.542													A	70845904	G	A	70845904	3	1	272	1	0	0	0	0	1	0	0	0	14614	1087	38	1	557	1	SLC39A11	17	70845904	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3833507	70845904	10349306	1755	136866											
C17orf80	55028	broad.mit.edu	37	chr17	71232985	71232986	+	Frame_Shift_Del	DEL	CT	CT	-													tgcagctgctggcaggaagaCtcttcgcagctgcatggggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71232984_71232985ACT>A	uc002jjm.4	+	2	1557_1558	c.1363_1364ACT>A	c.(1363-1365)actfs	p.T455fs	C17orf80_uc010wqu.1_Frame_Shift_Del_p.T455fs|C17orf80_uc010dfj.3_Frame_Shift_Del_p.T455fs|C17orf80_uc002jjk.1_Frame_Shift_Del_p.T455fs|C17orf80_uc002jjl.4_Frame_Shift_Del_p.T455fs	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	455						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGCAGGAAGACTCTTCGCAGC	0.564													-	71232986	CT	-	71232985	7	5	272	1	0	1	0	1	0	0	0	0	1885	565	20	0	1366	0	C17orf80	17	71232985	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GQ-01A-11D-A25D-08	387081	71232985	9962225	1756	136867											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282522	71282522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtctccggcccggccaaCgtgcatggtgtggcggaagt	17	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71282522C>T	uc002jjn.2	-	2	265	c.118G>A	c.(118-120)GTT>ATT	p.V40I	CDC42EP4_uc002jjo.2_Missense_Mutation_p.V40I|CDC42EP4_uc002jjp.1_Missense_Mutation_p.V40I	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	40	CRIB.				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCCCGGCCAACGTGCATGGTG	0.657													T	71282522	C	T	71282522	3	4	272	1	0	0	0	0	1	0	0	0	3078	536	19	1	956	1	CDC42EP4	17	71282522	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	49537	71282522	9912688	1757	136868											
SDK2	54549	broad.mit.edu	37	chr17	71346417	71346417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagaaagagttcttgacGgagagccgcctgttgttgag	15	8	1	5	rs138003419	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71346417G>A	uc010dfm.2	-	43	5997	c.5997C>T	c.(5995-5997)TCC>TCT	p.S1999S	SDK2_uc002jjt.3_Silent_p.S1139S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1999	Cytoplasmic (Potential).				cell adhesion	integral to membrane				ovary(2)	2						AGTTCTTGACGGAGAGCCGCC	0.602													A	71346417	G	A	71346417	2	1	272	1	0	0	0	0	0	0	0	1	13969	1103	39	1		1	SDK2	17	71346417	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	63895	71346417	9848793	1758	136869											
SDK2	54549	broad.mit.edu	37	chr17	71426726	71426727	+	Frame_Shift_Ins	INS	-	-	G													ttgatgacactctgatcctgINSggggggcttggtgatgcggg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71426725_71426726T>TG	uc010dfm.3	-	11	1507_1508	c.1507_1508A>CA	c.(1507-1509)cagfs	p.Q503fs	SDK2_uc010dfn.2_Frame_Shift_Ins_p.Q182fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	503	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						ACTCTGATCCTGGGGGGGCTTG	0.604													G	71426727	-	G	71426726	7	5	272	1	0	1	1	0	0	0	0	0	13969	1357	47	0	5147	0	SDK2	17	71426726	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	80309	71426726	9768484	1759	136870											
RPL38	6169	broad.mit.edu	37	chr17	72205355	72205355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaaaaataaggacaacGtgaagtttaaagttcgatgc	9	5	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:72205355G>A	uc002jjz.2	+	4	222	c.94G>A	c.(94-96)GTG>ATG	p.V32M	RPL38_uc002jka.2_Missense_Mutation_p.V32M	NM_000999	NP_000990	P63173	RL38_HUMAN	ribosomal protein L38	32					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TAAGGACAACGTGAAGTTTAA	0.443													A	72205355	G	A	72205355	3	1	272	1	0	0	0	0	1	0	0	0	13591	1145	40	1	104	1	RPL38	17	72205355	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	778629	72205355	8989855	1760	136871											
FADS6	283985	broad.mit.edu	37	chr17	72877353	72877353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcagggccagcgtccgcaGggctgtcccgagctccacct	12	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:72877353G>T	uc002jmd.1	-	4	583	c.571C>A	c.(571-573)CTG>ATG	p.L191M	FADS6_uc010wrn.1_Intron	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	197					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCGTCCGCAGGGCTGTCCCG	0.617													T	72877353	G	T	72877353	3	4	272	1	0	0	0	0	1	0	0	0	5368	991	35	5	493	5	FADS6	17	72877353	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	671998	72877353	8317857	1761	136872											
USH1G	124590	broad.mit.edu	37	chr17	72916757	72916757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagatgtcacacttgtcCgggtcacccctgcagggaaa	10	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:72916757C>T	uc002jme.1	-	2	357	c.174G>A	c.(172-174)CCG>CCA	p.P58P	USH1G_uc010wro.1_Intron	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	58	ANK 1.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					CACACTTGTCCGGGTCACCCC	0.617													T	72916757	C	T	72916757	2	4	272	1	0	0	0	0	0	0	0	1	17032	639	23	1		1	USH1G	17	72916757	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	39404	72916757	8278453	1762	136873											
SLC16A5	9121	broad.mit.edu	37	chr17	73094194	73094194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccgtgatgctggggggCgtgctggccagcctgggcat	19	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73094194C>T	uc002jmr.2	+	4	633	c.261C>T	c.(259-261)GGC>GGT	p.G87G	SLC16A5_uc002jms.1_Silent_p.G87G|SLC16A5_uc002jmt.2_Silent_p.G87G|SLC16A5_uc002jmu.2_Silent_p.G87G|SLC16A5_uc010wrt.1_Silent_p.G127G	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	87	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGCTGGGGGGCGTGCTGGCCA	0.602													T	73094194	C	T	73094194	2	4	272	1	0	0	0	0	0	0	0	1	14411	755	27	1		1	SLC16A5	17	73094194	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	177437	73094194	8101016	1763	136874											
SLC16A5	9121	broad.mit.edu	37	chr17	73094227	73094229	+	In_Frame_Del	DEL	CTT	CTT	-													ctgggcatggtggccagctcCttctctcacaacctcagcca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73094226_73094228CCTT>C	uc002jmr.3	+	3	665_667	c.293_295CCTT>C	c.(292-297)tccttc>tCtc	p.F99del	SLC16A5_uc002jmt.3_In_Frame_Del_p.F99del|SLC16A5_uc002jmu.3_In_Frame_Del_p.F99del|SLC16A5_uc010wrt.2_In_Frame_Del_p.F139del	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	99					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)	GTGGCCAGCTCCTTCTCTCACAA	0.591													-	73094229	CTT	-	73094227	7	5	272	1	0	1	0	1	0	0	0	0	14411	668	24	0	300	0	SLC16A5	17	73094227	In_Frame_Del	DEL	CTT	TCGA-HU-A4GQ-01A-11D-A25D-08	33	73094227	8100983	1764	136875											
KIAA0195	9772	broad.mit.edu	37	chr17	73484108	73484108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtccttgcactgggccTacagagacggacacctggtc	12	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73484108T>C	uc002jnz.3	+	6	780	c.505T>C	c.(505-507)TAC>CAC	p.Y169H	KIAA0195_uc010wsa.1_Missense_Mutation_p.Y179H|KIAA0195_uc010wsb.1_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	169					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			GCACTGGGCCTACAGAGACGG	0.582													C	73484108	T	C	73484108	3	2	272	1	0	0	0	0	1	0	0	0	8160	1522	53	3	523	3	KIAA0195	17	73484108	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	389881	73484108	7711102	1765	136876											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					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)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	272	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6955	73491063	7704147	1766	136877											
SAP30BP	29115	broad.mit.edu	37	chr17	73699916	73699916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatccccatggctggtctgAggactcctactatgaggcat	11	11	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73699916A>G	uc002jpe.2	+	8	632	c.578A>G	c.(577-579)GAG>GGG	p.E193G	SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_Intron|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.E177G	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein	193					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	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)			GGCTGGTCTGAGGACTCCTAC	0.493													G	73699916	A	G	73699916	3	3	272	1	0	0	0	0	1	0	0	0	13834	304	11	3	608	3	SAP30BP	17	73699916	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	208853	73699916	7495294	1767	136878											
SRP68	6730	broad.mit.edu	37	chr17	74035930	74035930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagggaatgggctggaAgcctggtgggaagtgcacaa	17	7	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:74035930A>G	uc002jqk.1	-	16	1776	c.1741T>C	c.(1741-1743)TTC>CTC	p.F581L	SRP68_uc010wsu.1_Missense_Mutation_p.F480L|SRP68_uc002jql.1_Missense_Mutation_p.F543L|SRP68_uc002jqj.1_Missense_Mutation_p.F242L	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	581					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						ATGGGCTGGAAGCCTGGTGGG	0.532													G	74035930	A	G	74035930	3	3	272	1	0	0	0	0	1	0	0	0	15155	72	3	3	146	3	SRP68	17	74035930	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	336014	74035930	7159280	1768	136879											
GALR2	8811	broad.mit.edu	37	chr17	74073109	74073109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggatgccccaccacgCgctcatcctctgcgtgtggt	11	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:74073109C>T	uc002jqm.1	+	2	842	c.761C>T	c.(760-762)GCG>GTG	p.A254V	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	254	Helical; Name=6; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCCCACCACGCGCTCATCCTC	0.677													T	74073109	C	T	74073109	3	4	272	1	0	0	0	0	1	0	0	0	6228	768	27	1	767	1	GALR2	17	74073109	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	37179	74073109	7122101	1769	136880											
SEPT9	10801	broad.mit.edu	37	chr17	75398671	75398671	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcgcccaccgcccccAgcccagcccagaccttggag	11	20	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:75398671A>T	uc002jts.3	+	3	733	c.607A>T	c.(607-609)AGC>TGC	p.S203C	SEPT9_uc010wtk.1_Missense_Mutation_p.S184C|SEPT9_uc002jtt.3_Missense_Mutation_p.S39C|SEPT9_uc002jtu.3_Missense_Mutation_p.S185C|SEPT9_uc002jtv.2_Missense_Mutation_p.S196C|SEPT9_uc002jtw.2_Missense_Mutation_p.S39C|SEPT9_uc002jtx.1_Missense_Mutation_p.S39C|SEPT9_uc010wtl.1_5'Flank	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	203					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			CACCGCCCCCAGCCCAGCCCA	0.687													T	75398671	A	T	75398671	3	4	272	1	0	0	0	0	1	0	0	0	14071	188	7	5	702	5	SEPT9	17	75398671	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1325562	75398671	5796539	1770	136881											
TMC8	147138	broad.mit.edu	37	chr17	76129604	76129604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgcctgctcctctgcTtctgtgggactctgcggcgg	14	14	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:76129604T>C	uc002jup.2	+	6	1031	c.649T>C	c.(649-651)TTC>CTC	p.F217L	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	217	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCTCCTCTGCTTCTGTGGGAC	0.642									Epidermodysplasia_Verruciformis_Familial_Clustering_of				C	76129604	T	C	76129604	3	2	272	1	0	0	0	0	1	0	0	0	15988	1609	56	3	667	3	TMC8	17	76129604	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	730933	76129604	5065606	1771	136882											
DNAH17	8632	broad.mit.edu	37	chr17	76458959	76458959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcagcttcatcaggccGttctccagcctctcgatttt	7	15	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:76458959G>A	uc010dhp.1	-	2	363	c.141C>T	c.(139-141)AAC>AAT	p.N47N	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCATCAGGCCGTTCTCCAGCC	0.582													A	76458959	G	A	76458959	2	1	272	1	0	0	0	0	0	0	0	1	4601	1136	40	1		1	DNAH17	17	76458959	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	329355	76458959	4736251	1772	136883											
USP36	57602	broad.mit.edu	37	chr17	76817087	76817087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacccggatctccagcgCgacgtccaagtaggggtcgt	13	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:76817087C>T	uc002jvz.1	-	8	1139	c.814G>A	c.(814-816)GCG>ACG	p.A272T	USP36_uc002jwa.1_Missense_Mutation_p.A272T|USP36_uc002jwc.1_5'UTR	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	272					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ATCTCCAGCGCGACGTCCAAG	0.582													T	76817087	C	T	76817087	3	4	272	1	0	0	0	0	1	0	0	0	17064	768	27	1	2609	1	USP36	17	76817087	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	358128	76817087	4378123	1773	136884											
TBC1D16	125058	broad.mit.edu	37	chr17	77984457	77984457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgtgatgtagcgcaggGcctcctcgtcctgcctctgg	15	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:77984457G>A	uc002jxj.2	-	3	397	c.281C>T	c.(280-282)GCC>GTC	p.A94V		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	94						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GTAGCGCAGGGCCTCCTCGTC	0.672													A	77984457	G	A	77984457	3	1	272	1	0	0	0	0	1	0	0	0	15602	1203	42	2	2062	2	TBC1D16	17	77984457	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1167370	77984457	3210753	1774	136885											
RNF213	57674	broad.mit.edu	37	chr17	78326795	78326795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccaccctcatggtttcTgatgtgaccaggctgcagca	10	12	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:78326795T>C	uc002jyh.1	+	8	4801	c.4578T>C	c.(4576-4578)TCT>TCC	p.S1526S	uc002jyi.1_RNA|RNF213_uc010dhw.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCATGGTTTCTGATGTGACCA	0.602													C	78326795	T	C	78326795	2	2	272	1	0	0	0	0	0	0	0	1	13477	1567	55	3		3	RNF213	17	78326795	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	342338	78326795	2868415	1775	136886											
RNF213	57674	broad.mit.edu	37	chr17	78357574	78357574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatatatggtgacccagTgaccttcctgccccacctgc	7	14	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:78357574T>C	uc002jyh.1	+	34	8610	c.8387T>C	c.(8386-8388)GTG>GCG	p.V2796A	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTGACCCAGTGACCTTCCTG	0.468													C	78357574	T	C	78357574	3	2	272	1	0	0	0	0	1	0	0	0	13477	1696	59	3	14717	3	RNF213	17	78357574	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	30779	78357574	2837636	1776	136887											
BAHCC1	57597	broad.mit.edu	37	chr17	79428094	79428094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagaagctgcgggcccgCgaggccctgttccccgtgca	14	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:79428094C>T	uc002kaf.2	+	24	6405	c.6405C>T	c.(6403-6405)CGC>CGT	p.R2135R	BAHCC1_uc002kae.2_Silent_p.R1365R	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2135							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			TGCGGGCCCGCGAGGCCCTGT	0.687													T	79428094	C	T	79428094	2	4	272	1	0	0	0	0	0	0	0	1	1296	755	27	1		1	BAHCC1	17	79428094	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1070520	79428094	1767116	1777	136888											
HGS	9146	broad.mit.edu	37	chr17	79661855	79661855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctccccagaactcgtcggCgcctctggctgaggacatcg	11	15	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:79661855C>A	uc002kbg.2	+	12	1024	c.947C>A	c.(946-948)GCG>GAG	p.A316E		NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	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			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AACTCGTCGGCGCCTCTGGCT	0.607													A	79661855	C	A	79661855	3	1	272	1	0	0	0	0	1	0	0	0	7087	768	27	5	993	5	HGS	17	79661855	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	233761	79661855	1533355	1778	136889											
GPS1	2873	broad.mit.edu	37	chr17	80013901	80013901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccccagcaacgtggccAtctacggtggcctgtgcgcc	12	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:80013901A>G	uc002kdl.1	+	8	916	c.871A>G	c.(871-873)ATC>GTC	p.I291V	GPS1_uc002kdk.1_Missense_Mutation_p.I327V|GPS1_uc010dij.1_Missense_Mutation_p.I326V|GPS1_uc002kdm.1_Missense_Mutation_p.I271V|GPS1_uc002kdn.1_Missense_Mutation_p.I287V|GPS1_uc002kdo.1_Missense_Mutation_p.I290V|GPS1_uc010wvh.1_Missense_Mutation_p.I283V	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	291					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	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)			CAACGTGGCCATCTACGGTGG	0.657													G	80013901	A	G	80013901	3	3	272	1	0	0	0	0	1	0	0	0	6732	217	8	3	1058	3	GPS1	17	80013901	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	352046	80013901	1181309	1779	136890											
FN3KRP	79672	broad.mit.edu	37	chr17	80680764	80680764	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggatacctcccccaggTgagtgcacggcgtttgcttc	12	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:80680764T>C	uc002kfu.2	+	4	518	c.468_splice	c.e4+2	p.Q156_splice	FN3KRP_uc010wvr.1_Splice_Site_p.Q106_splice	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein								kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTCCCCCAGGTGAGTGCACGG	0.547													C	80680764	T	C	80680764	5	2	272	1	0	0	0	0	0	0	1	0	5964	1710	59	3	484	3	FN3KRP	17	80680764	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	666863	80680764	514446	1780	136891											
TMEM200C	645369	broad.mit.edu	37	chr18	5891793	5891793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggctgctgcccgcaggCggcagctgcttacccccctc	13	18	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:5891793C>T	uc002kmx.1	-	1	311	c.270G>A	c.(268-270)CCG>CCA	p.P90P		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	90						integral to membrane					0						TGCCCGCAGGCGGCAGCTGCT	0.672													T	5891793	C	T	5891793	2	4	272	1	0	0	0	0	0	0	0	1	16122	755	27	1		1	TMEM200C	18	5891793	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		5891793	72185455	1781	136892											
KIAA0802	23255	broad.mit.edu	37	chr18	8784282	8784282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgatgccgagagtgatgCgggcaagaaggagagtgatg	18	6	0	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:8784282C>T	uc002knr.2	+	6	1314	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	KIAA0802_uc002knq.2_Missense_Mutation_p.A391V|KIAA0802_uc010dkw.1_Missense_Mutation_p.A229V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	742											0						GAGAGTGATGCGGGCAAGAAG	0.662													T	8784282	C	T	8784282	3	4	272	1	0	0	0	0	1	0	0	0	8194	768	27	1	1186	1	KIAA0802	18	8784282	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2892489	8784282	69292966	1782	136893											
NAPG	8774	broad.mit.edu	37	chr18	10549069	10549069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgtctgcaactcaccGcttttcaagtacatggacaa	7	11	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:10549069G>A	uc002kon.2	+	11	998	c.771G>A	c.(769-771)CCG>CCA	p.P257P	NAPG_uc010wzr.1_Silent_p.P175P|NAPG_uc002koo.2_Silent_p.P170P|NAPG_uc002kop.2_Silent_p.P170P	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	257					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0						GCAACTCACCGCTTTTCAAGT	0.433													A	10549069	G	A	10549069	2	1	272	1	0	0	0	0	0	0	0	1	10164	1074	38	1		1	NAPG	18	10549069	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1764787	10549069	67528179	1783	136894											
CEP192	55125	broad.mit.edu	37	chr18	13095595	13095595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcttctctcacgggcGgctcgcccgcctctggatca	9	18	6	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:13095595G>A	uc010xac.1	+	35	6428	c.6348G>A	c.(6346-6348)GCG>GCA	p.A2116A	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.A1641A|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.A538A|CEP192_uc002krw.2_Silent_p.A265A|CEP192_uc002krx.2_Silent_p.A120A|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2116										ovary(4)|pancreas(1)	5						TCTCACGGGCGGCTCGCCCGC	0.542													A	13095595	G	A	13095595	2	1	272	1	0	0	0	0	0	0	0	1	3251	1103	39	1		1	CEP192	18	13095595	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2546526	13095595	64981653	1784	136895											
C18orf1	753	broad.mit.edu	37	chr18	13645411	13645411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacattgctatgtatagcGggggtccatgcccacccagc	11	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:13645411G>A	uc002ksa.2	+	7	1344	c.676G>A	c.(676-678)GGG>AGG	p.G226R	C18orf1_uc002ksb.2_Missense_Mutation_p.G208R|C18orf1_uc002kse.2_Missense_Mutation_p.G189R|C18orf1_uc002ksf.2_Missense_Mutation_p.G171R|C18orf1_uc002ksg.1_Missense_Mutation_p.G149R|C18orf1_uc002ksh.1_Missense_Mutation_p.G168R|C18orf1_uc002ksi.1_Missense_Mutation_p.G150R	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	226	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		TATGTATAGCGGGGGTCCATG	0.567													A	13645411	G	A	13645411	3	1	272	1	0	0	0	0	1	0	0	0	1894	1116	39	1	775	1	C18orf1	18	13645411	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	549816	13645411	64431837	1785	136896											
MC5R	4161	broad.mit.edu	37	chr18	13826187	13826187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattgcagtggataggtaCgtcaccatcttctacgccct	9	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:13826187C>T	uc010xaf.1	+	1	423	c.423C>T	c.(421-423)TAC>TAT	p.Y141Y		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	141	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						TGGATAGGTACGTCACCATCT	0.577													T	13826187	C	T	13826187	2	4	272	1	0	0	0	0	0	0	0	1	9367	547	19	1		1	MC5R	18	13826187	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	180776	13826187	64251061	1786	136897											
ESCO1	114799	broad.mit.edu	37	chr18	19154750	19154750	+	Frame_Shift_Del	DEL	T	T	-													ttctgaattcttatcgtcacTttttttagtaactttggagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:19154750delT	uc002kth.1	-	4	989	c.55delA	c.(55-57)AGTfs	p.S19fs	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	19					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TTATCGTCACTTTTTTTAGTA	0.328													-	19154750	T	-	19154750	7	5	272	1	0	1	0	1	0	0	0	0	5248	1609	56	0	2503	0	ESCO1	18	19154750	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	5328563	19154750	58922498	1787	136898											
LAMA3	3909	broad.mit.edu	37	chr18	21461971	21461971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactatggcaacgccgtccaCggatcctgcagggcctgccc	11	16	0	0	rs144191865		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:21461971C>T	uc002kuq.2	+	40	5270	c.5184C>T	c.(5182-5184)CAC>CAT	p.H1728H	LAMA3_uc002kur.2_Silent_p.H1728H|LAMA3_uc002kus.3_Silent_p.H119H|LAMA3_uc002kut.3_Silent_p.H119H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1728	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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	ACGCCGTCCACGGATCCTGCA	0.458													T	21461971	C	T	21461971	2	4	272	1	0	0	0	0	0	0	0	1	8607	535	19	1		1	LAMA3	18	21461971	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2307221	21461971	56615277	1788	136899											
ZNF521	25925	broad.mit.edu	37	chr18	22804544	22804544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaagcctggtctattcGtgccgggagggacgttaatg	15	10	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:22804544G>A	uc002kvk.2	-	4	3585	c.3338C>T	c.(3337-3339)ACG>ATG	p.T1113M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T1113M|ZNF521_uc002kvl.2_Missense_Mutation_p.T893M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1113					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGTCTATTCGTGCCGGGAGG	0.552			T	PAX5	ALL								A	22804544	G	A	22804544	3	1	272	1	0	0	0	0	1	0	0	0	17962	1145	40	1	617	1	ZNF521	18	22804544	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1342573	22804544	55272704	1789	136900											
KCTD1	284252	broad.mit.edu	37	chr18	24039762	24039762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaggtctggggccacaCgcacgacgaggcactcacag	13	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:24039762C>T	uc002kvw.2	-	4	997	c.437G>A	c.(436-438)CGT>CAT	p.R146H	KCTD1_uc010xbj.1_Missense_Mutation_p.R754H|KCTD1_uc010xbk.1_Missense_Mutation_p.R146H|KCTD1_uc002kvy.2_Missense_Mutation_p.R64H	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	146					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			ovary(1)	1	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)			TGGGGCCACACGCACGACGAG	0.493													T	24039762	C	T	24039762	3	4	272	1	0	0	0	0	1	0	0	0	8096	536	19	1	344	1	KCTD1	18	24039762	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1235218	24039762	54037486	1790	136901											
DSC2	1824	broad.mit.edu	37	chr18	28671067	28671067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggagcccatcttctcttgGcgcgccttagaactttttct	8	12	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:28671067G>T	uc002kwl.3	-	4	852	c.398C>A	c.(397-399)GCC>GAC	p.A133D	DSC2_uc002kwk.3_Missense_Mutation_p.A133D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	133					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTTCTCTTGGCGCGCCTTAG	0.378													T	28671067	G	T	28671067	3	4	272	1	0	0	0	0	1	0	0	0	4766	1203	42	5	2399	5	DSC2	18	28671067	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4631305	28671067	49406181	1791	136902											
DSG2	1829	broad.mit.edu	37	chr18	29122700	29122700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggccacaggcgctatcaTgaccactgaaaccacgaaga	11	12	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:29122700T>C	uc002kwu.3	+	14	2407	c.2219T>C	c.(2218-2220)ATG>ACG	p.M740T	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	740	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GGCGCTATCATGACCACTGAA	0.547													C	29122700	T	C	29122700	3	2	272	1	0	0	0	0	1	0	0	0	4777	1464	51	3	2273	3	DSG2	18	29122700	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	451633	29122700	48954548	1792	136903											
MEP1B	4225	broad.mit.edu	37	chr18	29797785	29797785	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaagagaggctccaccCgagacaccatagtcattgct	10	11	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:29797785C>T	uc002kxj.3	+	14	1995	c.1948C>T	c.(1948-1950)CGA>TGA	p.R650*		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	650	Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AGGCTCCACCCGAGACACCAT	0.468													T	29797785	C	T	29797785	4	4	272	1	0	0	0	0	0	1	0	0	9476	644	23	1	2002	1	MEP1B	18	29797785	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	675085	29797785	48279463	1793	136904											
C18orf34	374864	broad.mit.edu	37	chr18	30792020	30792020	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagttataaatttgttcCtgtgaagaaagaattccatg	7	5	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:30792020C>A	uc002kxn.2	-	19	2221	c.2079_splice	c.e19-1	p.K693_splice	C18orf34_uc010dme.1_Splice_Site_p.K207_splice|C18orf34_uc010xbr.1_Splice_Site_p.K693_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.K655_splice|C18orf34_uc002kxp.2_Splice_Site_p.K693_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1											ovary(1)	1						AAATTTGTTCCTGTGAAGAAA	0.294													A	30792020	C	A	30792020	5	1	272	1	0	0	0	0	0	0	1	0	1902	695	24	5	541	5	C18orf34	18	30792020	Splice_Site	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	994235	30792020	47285228	1794	136905											
ASXL3	80816	broad.mit.edu	37	chr18	31325236	31325236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccaaatccagatggtaaGggctacttggcagggactct	11	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:31325236G>T	uc010dmg.1	+	12	5479	c.5424G>T	c.(5422-5424)AAG>AAT	p.K1808N	ASXL3_uc002kxq.2_Missense_Mutation_p.K1515N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CAGATGGTAAGGGCTACTTGG	0.483													T	31325236	G	T	31325236	3	4	272	1	0	0	0	0	1	0	0	0	1068	991	35	5	5470	5	ASXL3	18	31325236	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	533216	31325236	46752012	1795	136906											
SETBP1	26040	broad.mit.edu	37	chr18	42530475	42530475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagaacgtgagttctgcCagtaatcctgaaaatgactc	10	9	1	4	rs8091231	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:42530475C>T	uc010dni.2	+	4	1466	c.1170C>T	c.(1168-1170)GCC>GCT	p.A390A		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	390						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGTTCTGCCAGTAATCCTG	0.473									Schinzel-Giedion_syndrome				T	42530475	C	T	42530475	2	4	272	1	0	0	0	0	0	0	0	1	14129	581	21	4		4	SETBP1	18	42530475	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	11205239	42530475	35546773	1796	136907											
ATP5A1	498	broad.mit.edu	37	chr18	43667339	43667339	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtcatagatgatcaaagCatgtttgccattgtctctaa	8	8	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:43667339C>G	uc002lbr.1	-	7	1009	c.919G>C	c.(919-921)GCT>CCT	p.A307P	ATP5A1_uc010dnl.1_Missense_Mutation_p.A257P|ATP5A1_uc002lbs.1_Missense_Mutation_p.A257P|ATP5A1_uc002lbt.1_Missense_Mutation_p.A307P	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	307					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				0						ATGATCAAAGCATGTTTGCCA	0.418													G	43667339	C	G	43667339	3	3	272	1	0	0	0	0	1	0	0	0	1147	710	25	5	766	5	ATP5A1	18	43667339	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1136864	43667339	34409909	1797	136908											
RNF165	494470	broad.mit.edu	37	chr18	44015310	44015310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcccagcttcgacttcGgccaactgcagacacctcag	7	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:44015310G>A	uc002lcb.1	+	3	487	c.436G>A	c.(436-438)GGC>AGC	p.G146S	RNF165_uc002lby.1_Missense_Mutation_p.G79S|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	146							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		CTTCGACTTCGGCCAACTGCA	0.537													A	44015310	G	A	44015310	3	1	272	1	0	0	0	0	1	0	0	0	13456	1116	39	1	446	1	RNF165	18	44015310	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	347971	44015310	34061938	1798	136909											
TCEB3B	51224	broad.mit.edu	37	chr18	44560278	44560278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagacatggctgggcaccGttttcggcccggcggaatca	14	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:44560278G>A	uc002lcr.1	-	1	1711	c.1358C>T	c.(1357-1359)ACG>ATG	p.T453M	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	453					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCTGGGCACCGTTTTCGGCCC	0.602													A	44560278	G	A	44560278	3	1	272	1	0	0	0	0	1	0	0	0	15679	1145	40	1	907	1	TCEB3B	18	44560278	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	544968	44560278	33516970	1799	136910											
KATNAL2	83473	broad.mit.edu	37	chr18	44627353	44627353	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagatactcagactggCaaagagagttcgagtctgtc	11	9	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:44627353C>T	uc002lco.2	+	15	1572	c.1378C>T	c.(1378-1380)CAA>TAA	p.Q460*	KATNAL2_uc002lcp.3_Nonsense_Mutation_p.Q387*	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	532						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						CTCAGACTGGCAAAGAGAGTT	0.478											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44627353	C	T	44627353	4	4	272	1	0	0	0	0	0	1	0	0	7986	711	25	2	1432	2	KATNAL2	18	44627353	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	67075	44627353	33449895	1800	136911											
DYM	54808	broad.mit.edu	37	chr18	46783465	46783465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaacaatttgtgtgaaGgtacttgtcctgtgaggaaa	11	6	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:46783465G>T	uc002ldi.1	-	13	1740	c.1375C>A	c.(1375-1377)CTT>ATT	p.L459I	DYM_uc010xdf.1_Missense_Mutation_p.L269I|DYM_uc002ldj.3_Missense_Mutation_p.L281I|DYM_uc010dov.1_Missense_Mutation_p.L9I	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	459						Golgi apparatus					0						TTTGTGTGAAGGTACTTGTCC	0.378													T	46783465	G	T	46783465	3	4	272	1	0	0	0	0	1	0	0	0	4840	1000	35	5	654	5	DYM	18	46783465	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2156112	46783465	31293783	1801	136912											
STARD6	147323	broad.mit.edu	37	chr18	51855760	51855760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaaggatggttataacCgcggatataatttgaagatg	11	6	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:51855760C>T	uc010xdt.1	-	5	436	c.436G>A	c.(436-438)GGT>AGT	p.G146S		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6	146	START.				lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGGTTATAACCGCGGATATAA	0.308													T	51855760	C	T	51855760	3	4	272	1	0	0	0	0	1	0	0	0	15260	652	23	1	233	1	STARD6	18	51855760	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	5072295	51855760	26221488	1802	136913											
FECH	2235	broad.mit.edu	37	chr18	55238742	55238742	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttgaatcttgggggtTcggcgtttggcgatgaatgg	16	6	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:55238742T>C	uc002lgq.3	-	4	462	c.345A>G	c.(343-345)CGA>CGG	p.R115R	FECH_uc002lgp.3_Silent_p.R121R|FECH_uc002lgr.3_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	115					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				TCTTGGGGGTTCGGCGTTTGG	0.478													C	55238742	T	C	55238742	2	2	272	1	0	0	0	0	0	0	0	1	5808	1770	62	3		3	FECH	18	55238742	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3382982	55238742	22838506	1803	136914											
NARS	4677	broad.mit.edu	37	chr18	55274480	55274481	+	Frame_Shift_Ins	INS	-	-	A													caactgagaggattgagtcaINSaaaatgcctcttccccaaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:55274479_55274480C>CA	uc002lgs.2	-	8	1115_1116	c.887_888G>TG	c.(886-888)ttgfs	p.L296fs	NARS_uc010xea.1_Frame_Shift_Ins_p.L47fs|NARS_uc010xeb.1_Non-coding_Transcript|NARS_uc010xec.2_3'UTR|NARS_uc010xed.2_3'UTR	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	296					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding	p.L296F(2)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	AGGATTGAGTCAAAAATGCCTC	0.465													A	55274481	-	A	55274480	7	5	272	1	0	1	1	0	0	0	0	0	10170	131	5	0	783	0	NARS	18	55274480	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	35738	55274480	22802768	1804	136915											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	272	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1738805	57013285	21063963	1805	136916											
ZCCHC2	54877	broad.mit.edu	37	chr18	60232310	60232310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccactcctcagcatgcCcatggtggtactgtgaaagg	10	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:60232310C>T	uc002lip.3	+	11	1827	c.1827C>T	c.(1825-1827)GCC>GCT	p.A609A	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.A79A	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	609					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						CTCAGCATGCCCATGGTGGTA	0.338													T	60232310	C	T	60232310	2	4	272	1	0	0	0	0	0	0	0	1	17584	610	22	4		4	ZCCHC2	18	60232310	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3219025	60232310	17844938	1806	136917											
DSEL	92126	broad.mit.edu	37	chr18	65178220	65178220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatttagtccataaacTttggatatcctaggcgatcc	8	10	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:65178220T>C	uc002lke.1	-	2	4880	c.3656A>G	c.(3655-3657)AAG>AGG	p.K1219R		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1209						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GTCCATAAACTTTGGATATCC	0.353													C	65178220	T	C	65178220	3	2	272	1	0	0	0	0	1	0	0	0	4775	1609	56	3	16	3	DSEL	18	65178220	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	4945910	65178220	12899028	1807	136918											
DSEL	92126	broad.mit.edu	37	chr18	65180521	65180521	+	Frame_Shift_Del	DEL	C	C	-													ctatgtcatacacagctcgtCcccccagcttcccagattta							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:65180521delC	uc002lke.1	-	2	2579	c.1355delG	c.(1354-1356)GGAfs	p.G452fs		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	442						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CACAGCTCGTCCCCCCAGCTT	0.458													-	65180521	C	-	65180521	7	5	272	1	0	1	0	1	0	0	0	0	4775	855	30	0	2317	0	DSEL	18	65180521	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2301	65180521	12896727	1808	136919											
DOK6	220164	broad.mit.edu	37	chr18	67266666	67266666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tataaccagactgccccgagAgacaaagaagcatgcggtgg	12	10	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:67266666A>G	uc002lkl.2	+	3	411	c.221A>G	c.(220-222)GAG>GGG	p.E74G		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	74	PH.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGCCCCGAGAGACAAAGAAG	0.398													G	67266666	A	G	67266666	3	3	272	1	0	0	0	0	1	0	0	0	4701	304	11	3	231	3	DOK6	18	67266666	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2086145	67266666	10810582	1809	136920											
SOCS6	9306	broad.mit.edu	37	chr18	67992757	67992757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcttcgtggatcagtccGtgaatggcttgttgattggc	13	7	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:67992757G>A	uc002lkr.1	+	2	1169	c.853G>A	c.(853-855)GTG>ATG	p.V285M	SOCS6_uc010dqq.2_Missense_Mutation_p.V285M	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	285					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGATCAGTCCGTGAATGGCTT	0.577													A	67992757	G	A	67992757	3	1	272	1	0	0	0	0	1	0	0	0	14918	1145	40	1	855	1	SOCS6	18	67992757	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	726091	67992757	10084491	1810	136921											
NETO1	81832	broad.mit.edu	37	chr18	70526084	70526084	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgtgaaattgtatcgagctGaaaatcccatagattccagc	9	8	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:70526084G>T	uc002lkw.2	-	4	730	c.446C>A	c.(445-447)TCA>TAA	p.S149*	NETO1_uc002lkx.1_Nonsense_Mutation_p.S148*|NETO1_uc002lky.1_Nonsense_Mutation_p.S149*|NETO1_uc002lkz.2_Nonsense_Mutation_p.S148*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	149	CUB 1.|Extracellular (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTATCGAGCTGAAAATCCCAT	0.328													T	70526084	G	T	70526084	4	4	272	1	0	0	0	0	0	1	0	0	10339	1294	45	5	1192	5	NETO1	18	70526084	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2533327	70526084	7551164	1811	136922											
NETO1	81832	broad.mit.edu	37	chr18	70526301	70526302	+	Frame_Shift_Ins	INS	-	-	T													taaagttcaatgcactgtctINStggagcggctgtaaagaaga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:70526300_70526301C>CT	uc002lkw.3	-	3	513_514	c.229_230G>AG	c.(229-231)agafs	p.R77fs	NETO1_uc002lky.2_Frame_Shift_Ins_p.R77fs|NETO1_uc002lkz.3_Frame_Shift_Ins_p.R76fs	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	77	CUB 1.				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)		AATGCACTGTCTTGGAGCGGCT	0.366													T	70526302	-	T	70526301	7	5	272	1	0	1	1	0	0	0	0	0	10339	1617	56	0	1409	0	NETO1	18	70526301	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	217	70526301	7550947	1812	136923											
ZNF407	55628	broad.mit.edu	37	chr18	72344495	72344495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggccaggggagtgcccGtcctccggactccgggctgc	17	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:72344495G>A	uc002llw.2	+	1	1577	c.1520G>A	c.(1519-1521)CGT>CAT	p.R507H	ZNF407_uc010xfc.1_Missense_Mutation_p.R507H|ZNF407_uc010dqu.1_Missense_Mutation_p.R507H|ZNF407_uc002llu.2_Missense_Mutation_p.R506H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGAGTGCCCGTCCTCCGGAC	0.572													A	72344495	G	A	72344495	3	1	272	1	0	0	0	0	1	0	0	0	17884	1145	40	1	1522	1	ZNF407	18	72344495	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1818194	72344495	5732753	1813	136924											
ZNF516	9658	broad.mit.edu	37	chr18	74083491	74083491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccgcactcgatgcagaCgaactctcctggccgggcct	10	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:74083491C>T	uc010dqx.1	-	6	3530	c.3295G>A	c.(3295-3297)GTC>ATC	p.V1099I	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	1099	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCGATGCAGACGAACTCTCCT	0.692													T	74083491	C	T	74083491	3	4	272	1	0	0	0	0	1	0	0	0	17957	536	19	1	208	1	ZNF516	18	74083491	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1738996	74083491	3993757	1814	136925											
ATP9B	374868	broad.mit.edu	37	chr18	77107848	77107848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgctcatggtgcacGggcggaacagctacaagagg	16	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:77107848G>A	uc002lmx.2	+	24	2775	c.2761G>A	c.(2761-2763)GGG>AGG	p.G921R	ATP9B_uc002lmw.1_Missense_Mutation_p.G921R|ATP9B_uc002lmz.1_Missense_Mutation_p.G615R|ATP9B_uc002lna.2_5'UTR|ATP9B_uc002lnb.1_Missense_Mutation_p.G41R|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	921	Cytoplasmic (Potential).				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			ovary(3)	3		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)		CATGGTGCACGGGCGGAACAG	0.607													A	77107848	G	A	77107848	3	1	272	1	0	0	0	0	1	0	0	0	1199	1116	39	1	2855	1	ATP9B	18	77107848	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3024357	77107848	969400	1815	136926											
NFATC1	4772	broad.mit.edu	37	chr18	77246402	77246402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcgtggccggcttcccGccctgtccgcagagaagcac	12	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:77246402G>A	uc010xfg.1	+	9	2700	c.2247G>A	c.(2245-2247)CCG>CCA	p.P749P	NFATC1_uc002lnd.2_Silent_p.P749P|NFATC1_uc002lne.2_Silent_p.P277P|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P277P|NFATC1_uc002lnf.2_Silent_p.P736P|NFATC1_uc002lng.2_Silent_p.P736P|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	749	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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGGCTTCCCGCCCTGTCCGC	0.672													A	77246402	G	A	77246402	2	1	272	1	0	0	0	0	0	0	0	1	10361	1074	38	1		1	NFATC1	18	77246402	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	138554	77246402	830846	1816	136927											
CDC34	997	broad.mit.edu	37	chr19	541398	541398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtgaaggtgcccaccaCgctggccgagtactgcgtga	15	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:541398C>T	uc002lov.2	+	5	756	c.557C>T	c.(556-558)ACG>ATG	p.T186M	GZMM_uc002low.1_5'Flank	NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	186					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		GTGCCCACCACGCTGGCCGAG	0.687													T	541398	C	T	541398	3	4	272	1	0	0	0	0	1	0	0	0	3067	536	19	1	575	1	CDC34	19	541398	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		541398	58587585	1817	136928											
MED16	10025	broad.mit.edu	37	chr19	886015	886015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcggccagggccacgcGgccgcgcagccggcacaggc	17	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:886015G>A	uc002lqd.1	-	5	785	c.634C>T	c.(634-636)CGC>TGC	p.R212C	MED16_uc010drw.1_Missense_Mutation_p.R37C|MED16_uc002lqe.2_Missense_Mutation_p.R201C|MED16_uc002lqf.2_Missense_Mutation_p.R201C|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.R201C|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	212	WD 2.				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				0		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)		AGGGCCACGCGGCCGCGCAGC	0.716													A	886015	G	A	886015	3	1	272	1	0	0	0	0	1	0	0	0	9434	1116	39	1	2047	1	MED16	19	886015	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	344617	886015	58242968	1818	136929											
ABCA7	10347	broad.mit.edu	37	chr19	1058844	1058844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaggtctctgccactcCtgggagaggaggacgaggat	18	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1058844C>A	uc002lqw.3	+	39	5536	c.5305C>A	c.(5305-5307)CTG>ATG	p.L1769M	ABCA7_uc002lqy.2_Missense_Mutation_p.L222M|ABCA7_uc010dsc.2_RNA	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1769					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		TCTGCCACTCCTGGGAGAGGA	0.597													A	1058844	C	A	1058844	3	1	272	1	0	0	0	0	1	0	0	0	37	680	24	5	5455	5	ABCA7	19	1058844	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	172829	1058844	58070139	1819	136930											
HMHA1	23526	broad.mit.edu	37	chr19	1083158	1083158	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatcgtggaggtggagCaggacaacaagatgaccccc	15	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1083158C>T	uc002lqz.1	+	21	2992	c.2761C>T	c.(2761-2763)CAG>TAG	p.Q921*	HMHA1_uc010xgd.1_Nonsense_Mutation_p.Q937*|HMHA1_uc010xge.1_Nonsense_Mutation_p.Q789*|HMHA1_uc002lra.1_Nonsense_Mutation_p.Q761*|HMHA1_uc002lrb.1_Nonsense_Mutation_p.Q804*|HMHA1_uc002lrc.1_Nonsense_Mutation_p.Q556*|HMHA1_uc002lrd.1_5'UTR|HMHA1_uc010dsd.1_Nonsense_Mutation_p.Q27*	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	921	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		GGAGGTGGAGCAGGACAACAA	0.701													T	1083158	C	T	1083158	4	4	272	1	0	0	0	0	0	1	0	0	7240	711	25	2	2843	2	HMHA1	19	1083158	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	24314	1083158	58045825	1820	136931											
STK11	6794	broad.mit.edu	37	chr19	1223113	1223113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacggcgcggacgaggaCgaggacctcttcgacatcga	14	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1223113C>T	uc002lrl.1	+	8	2165	c.1050C>T	c.(1048-1050)GAC>GAT	p.D350D		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	350					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?(19)|p.D350D(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		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)		CGGACGAGGACGAGGACCTCT	0.652		14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			T	1223113	C	T	1223113	2	4	272	1	0	0	0	0	0	0	0	1	15286	535	19	1		1	STK11	19	1223113	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	139955	1223113	57905870	1821	136932											
MIDN	90007	broad.mit.edu	37	chr19	1257093	1257093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgtagaaaggcccggcGggacgcgcggggtccgtacc	17	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1257093G>A	uc002lrp.2	+	8	1744	c.1229G>A	c.(1228-1230)CGG>CAG	p.R410Q		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	410						nucleolus					0		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)		AAGGCCCGGCGGGACGCGCGG	0.721													A	1257093	G	A	1257093	3	1	272	1	0	0	0	0	1	0	0	0	9579	1116	39	1	1255	1	MIDN	19	1257093	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	33980	1257093	57871890	1822	136933											
NDUFS7	374291	broad.mit.edu	37	chr19	1390972	1390972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgctttggcgtggtcttcCgcgccagcccgcgccagtcc	12	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1390972C>T	uc002lse.3	+	5	374	c.331C>T	c.(331-333)CGC>TGC	p.R111C	NDUFS7_uc002lsf.2_Missense_Mutation_p.R175C|NDUFS7_uc002lsh.2_Missense_Mutation_p.R175C|NDUFS7_uc002lsg.2_Missense_Mutation_p.R118C	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	111					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CGTGGTCTTCCGCGCCAGCCC	0.662													T	1390972	C	T	1390972	3	4	272	1	0	0	0	0	1	0	0	0	10297	652	23	1	349	1	NDUFS7	19	1390972	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	133879	1390972	57738011	1823	136934											
APC2	10297	broad.mit.edu	37	chr19	1465252	1465252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgcggcacgctctggaAcctgtcggcccgcagcgccc	14	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1465252A>C	uc002lsr.1	+	15	2160	c.1952A>C	c.(1951-1953)AAC>ACC	p.N651T	APC2_uc002lss.1_Missense_Mutation_p.N233T|APC2_uc002lst.1_Missense_Mutation_p.N651T|APC2_uc002lsu.1_Missense_Mutation_p.N650T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	651	ARM 5.				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)|pancreas(1)	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)		ACGCTCTGGAACCTGTCGGCC	0.642													C	1465252	A	C	1465252	3	2	272	1	0	0	0	0	1	0	0	0	764	43	2	5	2006	5	APC2	19	1465252	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	74280	1465252	57663731	1824	136935											
PCSK4	54760	broad.mit.edu	37	chr19	1488257	1488257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcacccgccgctgcagcGtctgctgctggaaccactgc	11	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1488257G>A	uc002ltb.1	-	3	379	c.317C>T	c.(316-318)ACG>ATG	p.T106M	PCSK4_uc002lta.2_Translation_Start_Site|REEP6_uc010xgp.1_5'Flank|REEP6_uc002ltc.2_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	106					proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		CCGCTGCAGCGTCTGCTGCTG	0.672													A	1488257	G	A	1488257	3	1	272	1	0	0	0	0	1	0	0	0	11602	1145	40	1	2002	1	PCSK4	19	1488257	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	23005	1488257	57640726	1825	136936											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1506232	1506232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcccgcagtggcgagcGgttcttgtagacgagctgga	17	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1506232G>A	uc002ltd.2	-	12	1642	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.R169C|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.R410C	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	400	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AGTGGCGAGCGGTTCTTGTAG	0.677													A	1506232	G	A	1506232	3	1	272	1	0	0	0	0	1	0	0	0	278	1116	39	1	221	1	ADAMTSL5	19	1506232	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	17975	1506232	57622751	1826	136937											
MBD3	53615	broad.mit.edu	37	chr19	1592581	1592581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttctgggcacttcttccCtctcccagccctgcgggagc	9	18	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1592581C>A	uc002ltl.1	-	1	72	c.50G>T	c.(49-51)AGG>ATG	p.R17M	MBD3_uc002ltj.2_Missense_Mutation_p.R17M|MBD3_uc002ltk.2_Intron	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	17	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)		CACTTCTTCCCTCTCCCAGCC	0.577													A	1592581	C	A	1592581	3	1	272	1	0	0	0	0	1	0	0	0	9344	681	24	5	849	5	MBD3	19	1592581	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	86349	1592581	57536402	1827	136938											
TCF3	6929	broad.mit.edu	37	chr19	1615698	1615698	+	Frame_Shift_Del	DEL	G	G	-													ttggcacctggtccgggcccGgggggccttcagctccttct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1615697_1615697CG>C	uc002ltr.3	-	16	1643	c.1574_1574CG>G	c.(1573-1575)cggfs	p.R525fs	TCF3_uc002ltn.3_5'UTR|TCF3_uc002lto.3_Frame_Shift_Del_p.R286fs|TCF3_uc002ltt.4_Frame_Shift_Del_p.R525fs|TCF3_uc002ltq.3_Frame_Shift_Del_p.R474fs|TCF3_uc002lts.1_Frame_Shift_Del_p.R441fs	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	525					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	DNA binding|E-box binding|bHLH transcription factor 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	p.R525R(1)		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)		GGTCCGGGCCCGGGGGGCCTT	0.682			T	"PBX1, HLF, TFPT"	pre B-ALL								-	1615698	G	-	1615698	7	5	272	1	0	1	0	1	0	0	0	0	15691	1115	39	0	634	0	TCF3	19	1615698	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	23117	1615698	57513285	1828	136939											
KLF16	83855	broad.mit.edu	37	chr19	1854753	1854753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtcacaagcaaaagggCgttcccctggacggagagac	13	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1854753C>T	uc002luc.2	-	2	532	c.464G>A	c.(463-465)CGC>CAC	p.R155H	KLF16_uc010xgt.1_RNA	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	BTE-binding protein 4	155						nucleus	DNA binding|zinc ion binding				0		Ovarian(11;1.78e-06)|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)		AGCAAAAGGGCGTTCCCCTGG	0.657													T	1854753	C	T	1854753	3	4	272	1	0	0	0	0	1	0	0	0	8344	768	27	1	298	1	KLF16	19	1854753	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	239055	1854753	57274230	1829	136940											
ADAT3	113179	broad.mit.edu	37	chr19	1912913	1912913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactggacgcagacgaggaCggcctcccctacctgtgcac	11	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1912913C>T	uc002luh.2	+	2	1047	c.819C>T	c.(817-819)GAC>GAT	p.D273D	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	273					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		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)		CAGACGAGGACGGCCTCCCCT	0.706													T	1912913	C	T	1912913	2	4	272	1	0	0	0	0	0	0	0	1	286	535	19	1		1	ADAT3	19	1912913	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	58160	1912913	57216070	1830	136941											
BTBD2	55643	broad.mit.edu	37	chr19	1990129	1990129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcggcctcggaccagcGgacaacggcattgaacagcc	11	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1990129G>A	uc002lup.1	-	5	862	c.862C>T	c.(862-864)CGC>TGC	p.R288C	BTBD2_uc002luo.1_5'UTR	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	288						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		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)		TCGGACCAGCGGACAACGGCA	0.657													A	1990129	G	A	1990129	3	1	272	1	0	0	0	0	1	0	0	0	1543	1116	39	1	735	1	BTBD2	19	1990129	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	77216	1990129	57138854	1831	136942											
JSRP1	126306	broad.mit.edu	37	chr19	2255290	2255290	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccgccatccagctcctcCcaggctctggttgtcatgga	11	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:2255290C>T	uc002lvi.1	-	1	59	c.24G>A	c.(22-24)TGG>TGA	p.W8*	JSRP1_uc002lvj.1_Nonsense_Mutation_p.W8*	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	8	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				pancreas(1)	1				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)		CCAGCTCCTCCCAGGCTCTGG	0.652													T	2255290	C	T	2255290	4	4	272	1	0	0	0	0	0	1	0	0	7966	624	22	4	995	4	JSRP1	19	2255290	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	265161	2255290	56873693	1832	136943											
LMNB2	84823	broad.mit.edu	37	chr19	2431600	2431600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcctcctcttcctcCccattctcattctcacgcat	2	20	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:2431600C>T	uc002lvy.2	-	11	1794	c.1707G>A	c.(1705-1707)GGG>GGA	p.G569G	LMNB2_uc010dtc.1_5'Flank|LMNB2_uc002lwa.1_Silent_p.G589G	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	569	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(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)		CCTCTTCCTCCCCATTCTCAT	0.627													T	2431600	C	T	2431600	2	4	272	1	0	0	0	0	0	0	0	1	8850	610	22	4		4	LMNB2	19	2431600	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	176310	2431600	56697383	1833	136944											
TLE2	7089	broad.mit.edu	37	chr19	3005855	3005856	+	Frame_Shift_Ins	INS	-	-	G													gtcagctcggccttgatacgINSgggggtgggcgccgccaggt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3005854_3005855C>CG	uc010dth.3	-	15	1878_1879	c.1615_1616G>CG	c.(1615-1617)cgtfs	p.R539fs	TLE2_uc010xhb.2_Frame_Shift_Ins_p.R205fs|TLE2_uc002lww.3_Frame_Shift_Ins_p.R538fs|TLE2_uc010xhc.2_Frame_Shift_Ins_p.R416fs|TLE2_uc010dti.3_Frame_Shift_Ins_p.R552fs	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	538					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTGATACGGGGGGTGGGC	0.639													G	3005856	-	G	3005855	7	5	272	1	0	1	1	0	0	0	0	0	15936	1116	39	0	639	0	TLE2	19	3005855	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	574255	3005855	56123128	1834	136945											
TLE2	7089	broad.mit.edu	37	chr19	3009627	3009627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcacggagaggtctccGttgagagtgctgtgggagcc	18	9	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3009627G>A	uc002lww.2	-	13	1349	c.1086C>T	c.(1084-1086)AAC>AAT	p.N362N	TLE2_uc010xhb.1_Intron|TLE2_uc010dth.2_Silent_p.N363N|TLE2_uc010xhc.1_Silent_p.N240N|TLE2_uc010dti.2_Silent_p.N376N|TLE2_uc010xhd.1_Silent_p.N270N	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	362	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		AGAGGTCTCCGTTGAGAGTGC	0.647													A	3009627	G	A	3009627	2	1	272	1	0	0	0	0	0	0	0	1	15936	1136	40	1		1	TLE2	19	3009627	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3772	3009627	56119356	1835	136946											
NCLN	56926	broad.mit.edu	37	chr19	3193377	3193377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctgtctatctacaaGcagacccaggctgcctccgc	9	17	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3193377G>T	uc002lxi.2	+	3	625	c.471G>T	c.(469-471)AAG>AAT	p.K157N	NCLN_uc002lxh.1_RNA	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	157	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		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)		CTATCTACAAGCAGACCCAGG	0.667													T	3193377	G	T	3193377	3	4	272	1	0	0	0	0	1	0	0	0	10227	962	34	5	481	5	NCLN	19	3193377	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	183750	3193377	55935606	1836	136947											
DOHH	83475	broad.mit.edu	37	chr19	3496774	3496774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcttggggtccaccagCgtctgcccgatggcatccac	13	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3496774C>T	uc002lxs.2	-	2	202	c.39G>A	c.(37-39)ACG>ACA	p.T13T	DOHH_uc010xhl.1_Silent_p.T13T	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	13					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCACCAGCGTCTGCCCGA	0.687													T	3496774	C	T	3496774	2	4	272	1	0	0	0	0	0	0	0	1	4695	755	27	1		1	DOHH	19	3496774	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	303397	3496774	55632209	1837	136948											
C19orf28	126321	broad.mit.edu	37	chr19	3544813	3544813	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggactcacagcgtcGcaggcgggtcggccacagca	16	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3544813G>A	uc002lxz.2	-	9	1584	c.1414C>T	c.(1414-1416)CGA>TGA	p.R472*	C19orf28_uc002lxw.2_Nonsense_Mutation_p.R472*|C19orf28_uc002lxx.2_Nonsense_Mutation_p.R472*|C19orf28_uc002lxy.2_Nonsense_Mutation_p.R463*	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	472					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACAGCGTCGCAGGCGGGTC	0.672											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3544813	G	A	3544813	4	1	272	1	0	0	0	0	0	1	0	0	1917	1095	38	1	243	1	C19orf28	19	3544813	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	48039	3544813	55584170	1838	136949											
C19orf29	58509	broad.mit.edu	37	chr19	3613518	3613518	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaacagcggctcgctctcCacgccctgctcctgcttcag	11	17	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3613518C>A	uc002lyh.2	-	8	1475	c.1422G>T	c.(1420-1422)GTG>GTT	p.V474V	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Silent_p.V322V|C19orf29_uc002lyi.3_Silent_p.V474V|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	474						catalytic step 2 spliceosome	protein binding				0		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)		GCTCGCTCTCCACGCCCTGCT	0.706													A	3613518	C	A	3613518	2	1	272	1	0	0	0	0	0	0	0	1	1918	581	21	5		5	C19orf29	19	3613518	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	68705	3613518	55515465	1839	136950											
PIAS4	51588	broad.mit.edu	37	chr19	4037657	4037657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgcccccagcgtcaaCgggagcggtgccctgggcag	15	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4037657C>T	uc002lzg.2	+	11	1327	c.1317C>T	c.(1315-1317)AAC>AAT	p.N439N		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	439					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			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCGTCAACGGGAGCGGTG	0.682													T	4037657	C	T	4037657	2	4	272	1	0	0	0	0	0	0	0	1	11878	535	19	1		1	PIAS4	19	4037657	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	424139	4037657	55091326	1840	136951											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054897	4054897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggggatctccagcaggcGggcggcgctgaggatgtcac	19	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4054897G>A	uc002lzh.2	-	2	409	c.334C>T	c.(334-336)CGC>TGC	p.R112C	ZBTB7A_uc002lzi.2_Missense_Mutation_p.R112C	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	112					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		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)		TCCAGCAGGCGGGCGGCGCTG	0.721													A	4054897	G	A	4054897	3	1	272	1	0	0	0	0	1	0	0	0	17550	1116	39	1	1428	1	ZBTB7A	19	4054897	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	17240	4054897	55074086	1841	136952											
ANKRD24	170961	broad.mit.edu	37	chr19	4207271	4207271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctctcctgctcagaggtgCtctgctcctttaaggcacat	9	13	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4207271C>A	uc010dtt.1	+	8	775	c.499C>A	c.(499-501)CTC>ATC	p.L167I	ANKRD24_uc002lzs.2_Missense_Mutation_p.L138I|ANKRD24_uc002lzt.2_Missense_Mutation_p.L139I	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	167	ANK 3.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTCAGAGGTGCTCTGCTCCTT	0.408											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4207271	C	A	4207271	3	1	272	1	0	0	0	0	1	0	0	0	653	797	28	5	525	5	ANKRD24	19	4207271	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	152374	4207271	54921712	1842	136953											
EBI3	10148	broad.mit.edu	37	chr19	4234811	4234811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgtcagggagctgcgcGcttccaccgggtgaggagga	17	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4234811G>A	uc002lzu.2	+	4	535	c.527G>A	c.(526-528)CGC>CAC	p.R176H		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	176	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGCGCGCTTCCACCGG	0.607													A	4234811	G	A	4234811	3	1	272	1	0	0	0	0	1	0	0	0	4883	1087	38	1	541	1	EBI3	19	4234811	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	27540	4234811	54894172	1843	136954											
SH3GL1	6455	broad.mit.edu	37	chr19	4363850	4363850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagtcaaagtccaggcggCggccctccagtttcttcagg	12	12	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4363850C>T	uc002maj.2	-	6	597	c.491G>A	c.(490-492)CGC>CAC	p.R164H	SH3GL1_uc002mak.2_Missense_Mutation_p.R100H|SH3GL1_uc010xig.1_Missense_Mutation_p.R116H	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	164	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTCCAGGCGGCGGCCCTCCAG	0.627			T	MLL	AL								T	4363850	C	T	4363850	3	4	272	1	0	0	0	0	1	0	0	0	14250	768	27	1	635	1	SH3GL1	19	4363850	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	129039	4363850	54765133	1844	136955											
CHAF1A	10036	broad.mit.edu	37	chr19	4433182	4433182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaccacaccggcagcccGcggagcccctccaccaccta	8	21	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4433182G>A	uc002mal.2	+	13	2419	c.2319G>A	c.(2317-2319)CCG>CCA	p.P773P		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	773	Binds to p60.				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			ovary(1)|skin(1)	2		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)		CCGGCAGCCCGCGGAGCCCCT	0.662								Chromatin_Structure					A	4433182	G	A	4433182	2	1	272	1	0	0	0	0	0	0	0	1	3311	1074	38	1		1	CHAF1A	19	4433182	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	69332	4433182	54695801	1845	136956											
HDGFRP2	84717	broad.mit.edu	37	chr19	4499549	4499549	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaagtctatacccggcTcaagtcgcgggtcctcggcc	12	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4499549T>G	uc002mao.2	+	14	1730	c.1637T>G	c.(1636-1638)CTC>CGC	p.L546R	HDGFRP2_uc002map.2_Missense_Mutation_p.L546R|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.L11R|HDGFRP2_uc002maq.1_Missense_Mutation_p.L11R	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	546	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						TATACCCGGCTCAAGTCGCGG	0.363													G	4499549	T	G	4499549	3	3	272	1	0	0	0	0	1	0	0	0	7020	1551	54	5	1691	5	HDGFRP2	19	4499549	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	66367	4499549	54629434	1846	136957											
TICAM1	148022	broad.mit.edu	37	chr19	4817841	4817841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctccagtccgaaacaccGtcaatggggcgtgggaggct	15	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4817841G>A	uc002mbi.2	-	2	800	c.549C>T	c.(547-549)GAC>GAT	p.D183D		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	183					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGAAACACCGTCAATGGGGC	0.647													A	4817841	G	A	4817841	2	1	272	1	0	0	0	0	0	0	0	1	15889	1136	40	1		1	TICAM1	19	4817841	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	318292	4817841	54311142	1847	136958											
ARRDC5	645432	broad.mit.edu	37	chr19	4902846	4902846	+	Frame_Shift_Del	DEL	G	G	-													caccacagacatggggggttGgggggtagagagacattcct							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4902845_4902845TG>T	uc002mbm.3	-	0	35	c.35_35CA>A	c.(34-36)caafs	p.Q12fs		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	12					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CATGGGGGGTTGGGGGGTAGA	0.527													-	4902846	G	-	4902846	7	5	272	1	0	1	0	1	0	0	0	0	986	1357	47	0	1006	0	ARRDC5	19	4902846	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	85005	4902846	54226137	1848	136959											
PTPRS	5802	broad.mit.edu	37	chr19	5221061	5221061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatacaccatgatgaagccGtcagcatcaggcttgggggc	13	10	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5221061G>A	uc002mbv.2	-	20	3639	c.3405C>T	c.(3403-3405)GAC>GAT	p.D1135D	PTPRS_uc002mbu.1_Silent_p.D704D|PTPRS_uc010xin.1_Silent_p.D704D|PTPRS_uc002mbw.2_Silent_p.D1113D|PTPRS_uc002mbx.2_Silent_p.D708D|PTPRS_uc002mby.2_Silent_p.D704D	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1135	Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGATGAAGCCGTCAGCATCAG	0.612													A	5221061	G	A	5221061	2	1	272	1	0	0	0	0	0	0	0	1	12811	1136	40	1		1	PTPRS	19	5221061	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	318215	5221061	53907922	1849	136960											
PTPRS	5802	broad.mit.edu	37	chr19	5222792	5222792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttggaggtcataggccGtgtcgggcttcaggccctgc	15	12	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5222792G>A	uc002mbv.2	-	18	3245	c.3011C>T	c.(3010-3012)ACG>ATG	p.T1004M	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.T982M|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1004	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCATAGGCCGTGTCGGGCTT	0.741													A	5222792	G	A	5222792	3	1	272	1	0	0	0	0	1	0	0	0	12811	1145	40	1	2919	1	PTPRS	19	5222792	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1731	5222792	53906191	1850	136961											
SAFB	6294	broad.mit.edu	37	chr19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-													ccgggactcccgcgatggctGggggggctatggctctgaca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5667115delG	uc002mcf.2	+	18	2446	c.2393delG	c.(2392-2394)TGGfs	p.W798fs	SAFB_uc002mcg.2_Frame_Shift_Del_p.W798fs|SAFB_uc002mce.3_Frame_Shift_Del_p.W797fs|SAFB_uc010xir.1_Frame_Shift_Del_p.W797fs|SAFB_uc010xis.1_Frame_Shift_Del_p.W729fs|SAFB_uc010xit.1_Frame_Shift_Del_p.W640fs|SAFB_uc010xiu.1_Frame_Shift_Del_p.W597fs	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	798	Interaction with SAFB2.|Arg-rich.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGATGGCTGGGGGGGCTAT	0.642													-	5667115	G	-	5667115	7	5	272	1	0	1	0	1	0	0	0	0	13806	1357	47	0	2463	0	SAFB	19	5667115	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	444323	5667115	53461868	1851	136962											
LONP1	9361	broad.mit.edu	37	chr19	5693408	5693409	+	Frame_Shift_Ins	INS	-	-	GG													gccggacaggcctgcccatgINSgccagggacagcagggccgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5693407_5693408T>TGG	uc002mcx.3	-	16	2637_2638	c.2604_2605A>CCA	c.(2602-2607)gccatgfs	p.A868fs	LONP1_uc002mcy.3_Frame_Shift_Ins_p.A804fs|LONP1_uc010duh.3_Frame_Shift_Ins_p.A609fs|LONP1_uc010dui.3_Frame_Shift_Ins_p.A852fs|LONP1_uc002mcz.3_Frame_Shift_Ins_p.A672fs	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	868					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						GGCCTGCCCATGGCCAGGGACA	0.644													GG	5693409	-	GG	5693408	7	5	272	1	0	1	1	0	0	0	0	0	8892	1335	47	0	283	0	LONP1	19	5693408	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	26293	5693408	53435575	1852	136963											
DUS3L	56931	broad.mit.edu	37	chr19	5785755	5785755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacgagatgtcccagtgcCgctgctccttgatctccgtg	11	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5785755C>T	uc002mdc.2	-	11	1707	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.R295Q|DUS3L_uc010duk.2_Missense_Mutation_p.R202Q	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	537					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GTCCCAGTGCCGCTGCTCCTT	0.662													T	5785755	C	T	5785755	3	4	272	1	0	0	0	0	1	0	0	0	4807	652	23	1	354	1	DUS3L	19	5785755	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	92347	5785755	53343228	1853	136964											
FUT3	2525	broad.mit.edu	37	chr19	5844280	5844280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccgcccaggccaccagctCggtcttggccgagaggttga	13	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5844280C>T	uc002mdk.2	-	2	668	c.571G>A	c.(571-573)GAG>AAG	p.E191K	FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	191	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						GCCACCAGCTCGGTCTTGGCC	0.667													T	5844280	C	T	5844280	3	4	272	1	0	0	0	0	1	0	0	0	6105	893	31	1	518	1	FUT3	19	5844280	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	58525	5844280	53284703	1854	136965											
C3	718	broad.mit.edu	37	chr19	6702207	6702207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcaaaaatatattcaTgagcttcgtagagattctgg	8	6	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:6702207T>C	uc002mfm.2	-	19	2433	c.2371A>G	c.(2371-2373)ATG>GTG	p.M791V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	791					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AATATATTCATGAGCTTCGTA	0.517													C	6702207	T	C	6702207	3	2	272	1	0	0	0	0	1	0	0	0	2204	1464	51	3	2712	3	C3	19	6702207	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	857927	6702207	52426776	1855	136966											
ARHGEF18	23370	broad.mit.edu	37	chr19	7521218	7521218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctgttttcccagatatcCtggctatcctgctgaccgac	8	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:7521218C>A	uc002mgi.2	+	8	1799	c.1546C>A	c.(1546-1548)CTG>ATG	p.L516M	ARHGEF18_uc010xjm.1_Missense_Mutation_p.L358M|ARHGEF18_uc002mgh.2_Missense_Mutation_p.L358M|ARHGEF18_uc002mgj.1_Missense_Mutation_p.L159M	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	516	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			ovary(1)	1		Renal(5;0.0902)				CCCAGATATCCTGGCTATCCT	0.498													A	7521218	C	A	7521218	3	1	272	1	0	0	0	0	1	0	0	0	901	680	24	5	1576	5	ARHGEF18	19	7521218	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	819011	7521218	51607765	1856	136967											
ARHGEF18	23370	broad.mit.edu	37	chr19	7535174	7535176	+	In_Frame_Del	DEL	TCT	TCT	-													cgccagcaaagaagacgtcaTcttcttctaaaagggccgtg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:7535173_7535175ATCT>A	uc002mgi.3	+	18	3764_3766	c.3511_3513ATCT>A	c.(3511-3513)atc>A	p.I1171del	ARHGEF18_uc010xjm.1_In_Frame_Del_p.I1013del|ARHGEF18_uc002mgh.3_In_Frame_Del_p.I1013del|ARHGEF18_uc002mgj.1_In_Frame_Del_p.I808del|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1171					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|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)				AGAAGACGTCATCTTCTTCTAAA	0.675													-	7535176	TCT	-	7535174	7	5	272	1	0	1	0	1	0	0	0	0	901	1435	50	0	3586	0	ARHGEF18	19	7535174	In_Frame_Del	DEL	TCT	TCGA-HU-A4GQ-01A-11D-A25D-08	13956	7535174	51593809	1857	136968											
SNAPC2	6618	broad.mit.edu	37	chr19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-													ctccaaggcaccagaggagaCccccccagccaccgagaagg					rs143745112	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					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						ACCAGAGGAGACCCCCCCAGC	0.667													-	7987519	C	-	7987519	7	5	272	1	0	1	0	1	0	0	0	0	14835	507	18	0	893	0	SNAPC2	19	7987519	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	452345	7987519	51141464	1858	136969											
FBN3	84467	broad.mit.edu	37	chr19	8171032	8171032	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaggtggtagccaggTgggcactcacactggaaact	13	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8171032T>C	uc002mjf.2	-	37	4794	c.4773A>G	c.(4771-4773)CCA>CCG	p.P1591P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1591	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGTAGCCAGGTGGGCACTCAC	0.592													C	8171032	T	C	8171032	2	2	272	1	0	0	0	0	0	0	0	1	5704	1683	59	3		3	FBN3	19	8171032	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	183513	8171032	50957951	1859	136970											
RAB11B	9230	broad.mit.edu	37	chr19	8468313	8468313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagatctaccgcatcgtGtcacagaaacagatcgcaga	10	11	2	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8468313G>A	uc002mju.3	+	5	624	c.528G>A	c.(526-528)GTG>GTA	p.V176V		NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	176					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						ACCGCATCGTGTCACAGAAAC	0.657													A	8468313	G	A	8468313	2	1	272	1	0	0	0	0	0	0	0	1	12892	1364	48	4		4	RAB11B	19	8468313	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	297281	8468313	50660670	1860	136971											
MYO1F	4542	broad.mit.edu	37	chr19	8595204	8595204	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacgaagttccgattgAtgctgttgcgcctccgctcc	10	16	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8595204A>T	uc002mkg.2	-	21	2318	c.2204T>A	c.(2203-2205)ATC>AAC	p.I735N		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	735						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GTTCCGATTGATGCTGTTGCG	0.627													T	8595204	A	T	8595204	3	4	272	1	0	0	0	0	1	0	0	0	10073	333	12	5	1124	5	MYO1F	19	8595204	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	126891	8595204	50533779	1861	136972											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668765	8668765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctgccacgatcaggcCgtgctgggttttgagaagtg	14	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8668765C>T	uc002mkj.1	-	5	713	c.439G>A	c.(439-441)GGC>AGC	p.G147S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	147					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ACGATCAGGCCGTGCTGGGTT	0.537													T	8668765	C	T	8668765	3	4	272	1	0	0	0	0	1	0	0	0	256	652	23	1	2960	1	ADAMTS10	19	8668765	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	73561	8668765	50460218	1862	136973											
COL5A3	50509	broad.mit.edu	37	chr19	10107118	10107118	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcccactcacctgagtctgCtgcagaactgcctgagcctg	9	16	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10107118C>G	uc002mmq.1	-	13	1499	c.1413G>C	c.(1411-1413)CAG>CAC	p.Q471H		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	471	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCTGAGTCTGCTGCAGAACTG	0.582													G	10107118	C	G	10107118	3	3	272	1	0	0	0	0	1	0	0	0	3698	796	28	5	4044	5	COL5A3	19	10107118	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1438353	10107118	49021865	1863	136974											
EIF3G	8666	broad.mit.edu	37	chr19	10226486	10226486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgacacggatggtggcGttgtcgtcggctgtgtggga	19	6	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10226486G>A	uc002mnd.2	-	9	778	c.714C>T	c.(712-714)AAC>AAT	p.N238N		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	238						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GGATGGTGGCGTTGTCGTCGG	0.642													A	10226486	G	A	10226486	2	1	272	1	0	0	0	0	0	0	0	1	5017	1136	40	1		1	EIF3G	19	10226486	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	119368	10226486	48902497	1864	136975											
ICAM4	3386	broad.mit.edu	37	chr19	10398019	10398019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcctggagctccctcGcgcactgcctcgtgacctgc	13	16	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10398019G>A	uc002mns.1	+	1	370	c.331G>A	c.(331-333)GCG>ACG	p.A111T	ICAM4_uc002mnr.1_Missense_Mutation_p.A111T|ICAM4_uc002mnt.1_Missense_Mutation_p.A111T|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	111	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCTCCCTCGCGCACTGCCT	0.677													A	10398019	G	A	10398019	3	1	272	1	0	0	0	0	1	0	0	0	7482	1087	38	1	333	1	ICAM4	19	10398019	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	171533	10398019	48730964	1865	136976											
ICAM5	7087	broad.mit.edu	37	chr19	10402911	10402911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacagccacagctagcGcagagcaggagggtgccagg	15	13	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10402911G>A	uc002mnu.3	+	4	939	c.874G>A	c.(874-876)GCA>ACA	p.A292T	ICAM5_uc002mnv.3_Missense_Mutation_p.A167T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	292	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACAGCTAGCGCAGAGCAGGA	0.627													A	10402911	G	A	10402911	3	1	272	1	0	0	0	0	1	0	0	0	7483	1087	38	1	888	1	ICAM5	19	10402911	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4892	10402911	48726072	1866	136977											
S1PR5	53637	broad.mit.edu	37	chr19	10624889	10624889	+	Frame_Shift_Del	DEL	G	G	-													gagcaacagcagcaggaagaGggggccccaacatgccacaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10624889delG	uc002mot.1	-	2	856	c.799delC	c.(799-801)CTCfs	p.L267fs	S1PR5_uc002mou.1_Frame_Shift_Del_p.L267fs	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	267	Helical; Name=6; (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						AGCAGGAAGAGGGGGCCCCAA	0.692													-	10624889	G	-	10624889	7	5	272	1	0	1	0	1	0	0	0	0	13797	1000	35	0	401	0	S1PR5	19	10624889	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	221978	10624889	48504094	1867	136978											
DNM2	1785	broad.mit.edu	37	chr19	10940880	10940880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggggccccactccagGgccccccctgattcctgttc	11	17	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10940880G>T	uc002mps.1	+	20	2533	c.2369G>T	c.(2368-2370)GGG>GTG	p.G790V	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.G790V|DNM2_uc002mpv.1_Missense_Mutation_p.G786V|DNM2_uc002mpu.1_Missense_Mutation_p.G786V|DNM2_uc010dxl.1_Missense_Mutation_p.G790V|DNM2_uc002mpw.2_Missense_Mutation_p.G519V|DNM2_uc002mpx.1_Missense_Mutation_p.G146V	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	790	Pro-rich.				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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCACTCCAGGGCCCCCCCTG	0.692													T	10940880	G	T	10940880	3	4	272	1	0	0	0	0	1	0	0	0	4672	1232	43	5	2590	5	DNM2	19	10940880	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	315991	10940880	48188103	1868	136979											
DNM2	1785	broad.mit.edu	37	chr19	10941025	10941025	+	Frame_Shift_Del	DEL	C	C	-													ccatctcggccagttcggatCcccccagggattcccccagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10941024_10941024TC>T	uc002mpt.2	+	19	2703	c.2513_2513TC>T	c.(2512-2514)atcfs	p.I838fs	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Del_p.I838fs|DNM2_uc010dxl.2_Frame_Shift_Del_p.I838fs|DNM2_uc002mpu.2_Frame_Shift_Del_p.I834fs|DNM2_uc002mpv.2_Frame_Shift_Del_p.I834fs|DNM2_uc002mpw.3_Frame_Shift_Del_p.I567fs|DNM2_uc002mpx.1_Frame_Shift_Del_p.I194fs	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	838	Pro-rich.				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	Golgi membrane|cell junction|cytosol|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)			CCAGTTCGGATCCCCCCAGGG	0.662			"F, N, Splice, Mis, O"		ETP ALL								-	10941025	C	-	10941025	7	5	272	1	0	1	0	1	0	0	0	0	4672	845	30	0	2735	0	DNM2	19	10941025	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	145	10941025	48187958	1869	136980											
LDLR	3949	broad.mit.edu	37	chr19	11216183	11216183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagcccctgctcggccttcGagttccactgcctaagtggc	11	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:11216183G>A	uc002mqk.3	+	4	769	c.601G>A	c.(601-603)GAG>AAG	p.E201K	LDLR_uc010xlk.1_Missense_Mutation_p.E201K|LDLR_uc010xll.1_Missense_Mutation_p.E160K|LDLR_uc010xlm.1_Missense_Mutation_p.E54K|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	201	LDL-receptor class A 5.|Extracellular (Potential).				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			ovary(2)|skin(2)	4		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)	CTCGGCCTTCGAGTTCCACTG	0.607													A	11216183	G	A	11216183	3	1	272	1	0	0	0	0	1	0	0	0	8704	1059	37	1	615	1	LDLR	19	11216183	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	275158	11216183	47912800	1870	136981											
NACC1	112939	broad.mit.edu	37	chr19	13246173	13246173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccgtgcttgctgccaGcagctcctacttccgggacc	12	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:13246173G>A	uc002mwm.2	+	2	320	c.152G>A	c.(151-153)AGC>AAC	p.S51N		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	51	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						CTTGCTGCCAGCAGCTCCTAC	0.637													A	13246173	G	A	13246173	3	1	272	1	0	0	0	0	1	0	0	0	10135	971	34	2	154	2	NACC1	19	13246173	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2029990	13246173	45882810	1871	136982											
CACNA1A	773	broad.mit.edu	37	chr19	13394195	13394195	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggttcaggatgtaatgGcacaggcggcgaaggctgtt	16	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:13394195G>T	uc010dze.2	-	22	3947	c.3711C>A	c.(3709-3711)TGC>TGA	p.C1237*	CACNA1A_uc010dzc.2_Nonsense_Mutation_p.C762*|CACNA1A_uc002mwy.3_Nonsense_Mutation_p.C1236*|CACNA1A_uc010xne.1_Nonsense_Mutation_p.C765*	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1237	III.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGATGTAATGGCACAGGCGGC	0.562													T	13394195	G	T	13394195	4	4	272	1	0	0	0	0	0	1	0	0	2538	1195	42	5	4018	5	CACNA1A	19	13394195	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	148022	13394195	45734788	1872	136983											
C19orf57	79173	broad.mit.edu	37	chr19	14000816	14000816	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagcagggcctgaggTaggagctgatgctggggtac	18	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:14000816T>A	uc002mxl.1	-	6	912	c.853A>T	c.(853-855)ACC>TCC	p.T285S	C19orf57_uc002mxk.1_Missense_Mutation_p.T167S|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	285					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGCCTGAGGTAGGAGCTGAT	0.706													A	14000816	T	A	14000816	3	1	272	1	0	0	0	0	1	0	0	0	1939	1638	57	5	1072	5	C19orf57	19	14000816	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	606621	14000816	45128167	1873	136984											
CCDC105	126402	broad.mit.edu	37	chr19	15124536	15124536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaagaggagctgaaaaGcatgaagaggaaaatggaga	16	2	0	6			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15124536G>T	uc002nae.2	+	2	722	c.623G>T	c.(622-624)AGC>ATC	p.S208I		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	208	Potential.				microtubule cytoskeleton organization	microtubule				ovary(1)	1						GAGCTGAAAAGCATGAAGAGG	0.498													T	15124536	G	T	15124536	3	4	272	1	0	0	0	0	1	0	0	0	2740	971	34	5	629	5	CCDC105	19	15124536	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1123720	15124536	44004447	1874	136985											
NOTCH3	4854	broad.mit.edu	37	chr19	15281358	15281358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttctggaggctccagcGgctcccctaagagcaggaag	15	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15281358G>A	uc002nan.2	-	27	4974	c.4898C>T	c.(4897-4899)CCG>CTG	p.P1633L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1633	Extracellular (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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGCTCCAGCGGCTCCCCTAA	0.716													A	15281358	G	A	15281358	3	1	272	1	0	0	0	0	1	0	0	0	10550	1116	39	1	2095	1	NOTCH3	19	15281358	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	156822	15281358	43847625	1875	136986											
BRD4	23476	broad.mit.edu	37	chr19	15365024	15365024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctccgactctgaggaCgagaagcccttcatcttgga	11	12	4	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15365024C>T	uc002nar.2	-	11	2319	c.2097G>A	c.(2095-2097)TCG>TCA	p.S699S	BRD4_uc002nas.2_Silent_p.S699S|BRD4_uc002nat.3_Silent_p.S699S	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	699	Ser-rich.				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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACTCTGAGGACGAGAAGCCCT	0.542			T	NUT|C15orf55	lethal midline carcinoma of young people								T	15365024	C	T	15365024	2	4	272	1	0	0	0	0	0	0	0	1	1504	523	19	1		1	BRD4	19	15365024	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	83666	15365024	43763959	1876	136987											
AKAP8	10270	broad.mit.edu	37	chr19	15466133	15466135	+	In_Frame_Del	DEL	CTC	CTC	-													ctcacctcctaaattgtcatCtccttccatttctggatcaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15466132_15466134TCTC>T	uc002nav.3	-	13	1741_1743	c.1671_1673GAGA>A	c.(1669-1674)ggagat>ggAt	p.D559del	AKAP8_uc010dzy.3_In_Frame_Del_p.D108del	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	559					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						TAAATTGTCATCTCCTTCCATTT	0.542													-	15466135	CTC	-	15466133	7	5	272	1	0	1	0	1	0	0	0	0	457	913	32	0	410	0	AKAP8	19	15466133	In_Frame_Del	DEL	CTC	TCGA-HU-A4GQ-01A-11D-A25D-08	101109	15466133	43662850	1877	136988											
AKAP8	10270	broad.mit.edu	37	chr19	15483948	15483948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggtcctggaagcggcccTggccccggccccgcatgaag	14	17	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15483948T>C	uc002nav.2	-	5	636	c.575A>G	c.(574-576)CAG>CGG	p.Q192R	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.Q6R	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	192					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GAAGCGGCCCTGGCCCCGGCC	0.701													C	15483948	T	C	15483948	3	2	272	1	0	0	0	0	1	0	0	0	457	1580	55	3	1543	3	AKAP8	19	15483948	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	17815	15483948	43645035	1878	136989											
CHERP	10523	broad.mit.edu	37	chr19	16631266	16631266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatcttgagttggagcGggaggaagaacgccctcgac	17	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:16631266G>A	uc002nei.1	-	14	2328	c.2254C>T	c.(2254-2256)CGC>TGC	p.R752C	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.R291C	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	752	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GAGTTGGAGCGGGAGGAAGAA	0.607													A	16631266	G	A	16631266	3	1	272	1	0	0	0	0	1	0	0	0	3336	1116	39	1	512	1	CHERP	19	16631266	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1147318	16631266	42497717	1879	136990											
UNC13A	23025	broad.mit.edu	37	chr19	17758169	17758169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgccgtcttggtcaccGcgaagatctcctggatgagc	13	12	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:17758169G>A	uc002nhd.2	-	17	2213	c.2213C>T	c.(2212-2214)GCG>GTG	p.A738V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	650					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CTTGGTCACCGCGAAGATCTC	0.597													A	17758169	G	A	17758169	3	1	272	1	0	0	0	0	1	0	0	0	16981	1087	38	1	3270	1	UNC13A	19	17758169	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1126903	17758169	41370814	1880	136991											
ARRDC2	27106	broad.mit.edu	37	chr19	18119538	18119538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agataccggggagaccacgaCgctgcctcctgggcgccatg	14	14	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:18119538C>T	uc002nhv.2	+	2	436	c.293C>T	c.(292-294)ACG>ATG	p.T98M	ARRDC2_uc002nhu.2_Missense_Mutation_p.T93M	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	98								p.R98C(1)		pancreas(1)	1						GAGACCACGACGCTGCCTCCT	0.642													T	18119538	C	T	18119538	3	4	272	1	0	0	0	0	1	0	0	0	983	536	19	1	562	1	ARRDC2	19	18119538	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	361369	18119538	41009445	1881	136992											
KLHL26	55295	broad.mit.edu	37	chr19	18778890	18778890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgagatcgacctgttccGcgcggccgtccgctggctgc	14	16	0	1	rs148044384		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:18778890G>A	uc002njz.1	+	3	710	c.683G>A	c.(682-684)CGC>CAC	p.R228H		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	228	BACK.									ovary(1)	1						GACCTGTTCCGCGCGGCCGTC	0.577													A	18778890	G	A	18778890	3	1	272	1	0	0	0	0	1	0	0	0	8381	1087	38	1	693	1	KLHL26	19	18778890	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	659352	18778890	40350093	1882	136993											
UPF1	5976	broad.mit.edu	37	chr19	18956893	18956893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagatgaagaagacacCtattacacgaaggacctccc	10	10	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:18956893C>A	uc002nkg.2	+	2	611	c.336C>A	c.(334-336)ACC>ACA	p.T112T	UPF1_uc002nkf.2_Silent_p.T112T	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	112	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|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AAGAAGACACCTATTACACGA	0.597													A	18956893	C	A	18956893	2	1	272	1	0	0	0	0	0	0	0	1	17000	668	24	5		5	UPF1	19	18956893	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	178003	18956893	40172090	1883	136994											
SFRS14	10147	broad.mit.edu	37	chr19	19106069	19106069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggtcagcttctgctgggcGaagtccaagtccttgggttt	13	10	2	0	rs143289736		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19106069G>A	uc002nkx.2	-	9	3158	c.3012C>T	c.(3010-3012)TTC>TTT	p.F1004F	SFRS14_uc002nkz.1_Silent_p.F1018F|SFRS14_uc002nla.1_Silent_p.F1004F|SFRS14_uc002nlb.2_Silent_p.F1004F|SFRS14_uc010xqk.1_Silent_p.F773F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	1004					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			TCTGCTGGGCGAAGTCCAAGT	0.592													A	19106069	G	A	19106069	2	1	272	1	0	0	0	0	0	0	0	1	14170	1049	37	1		1	SFRS14	19	19106069	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	149176	19106069	40022914	1884	136995											
ARMC6	93436	broad.mit.edu	37	chr19	19162461	19162461	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggagtctgtggccAgctctcgcccccaggaggtg	13	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19162461A>T	uc002nld.2	+	5	658	c.310A>T	c.(310-312)AGC>TGC	p.S104C	ARMC6_uc002nlc.2_Missense_Mutation_p.S79C|ARMC6_uc010xql.1_Missense_Mutation_p.S11C|ARMC6_uc002nle.2_Missense_Mutation_p.S79C|ARMC6_uc010xqm.1_Missense_Mutation_p.S104C	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	104							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GTCTGTGGCCAGCTCTCGCCC	0.612													T	19162461	A	T	19162461	3	4	272	1	0	0	0	0	1	0	0	0	955	188	7	5	245	5	ARMC6	19	19162461	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	56392	19162461	39966522	1885	136996											
NCAN	1463	broad.mit.edu	37	chr19	19338121	19338121	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagagctccccagagccCtggctgtggccccctaccat	11	17	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19338121C>A	uc002nlz.2	+	8	1791	c.1692C>A	c.(1690-1692)CCC>CCA	p.P564P	NCAN_uc010ecc.1_Silent_p.P128P	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	564					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CCCCAGAGCCCTGGCTGTGGC	0.612													A	19338121	C	A	19338121	2	1	272	1	0	0	0	0	0	0	0	1	10204	668	24	5		5	NCAN	19	19338121	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	175660	19338121	39790862	1886	136997											
NCAN	1463	broad.mit.edu	37	chr19	19338279	19338279	+	Frame_Shift_Del	DEL	C	C	-													tgtctcagctcccagccctgCcccctgggaggcattccctg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19338278_19338278GC>G	uc002nlz.3	+	7	1948	c.1849_1849GC>G	c.(1849-1851)gccfs	p.A617fs	NCAN_uc010ecc.1_Frame_Shift_Del_p.A181fs	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	617					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)			TCCCAGCCCTGCCCCCTGGGA	0.642													-	19338279	C	-	19338279	7	5	272	1	0	1	0	1	0	0	0	0	10204	739	26	0	1876	0	NCAN	19	19338279	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	158	19338279	39790704	1887	136998											
TSSK6	83983	broad.mit.edu	37	chr19	19626126	19626126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaccttgatggccacGgtacccttgtacttcttgga	8	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19626126G>A	uc002nmr.2	-	1	344	c.111C>T	c.(109-111)ACC>ACT	p.T37T	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	37	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						TGATGGCCACGGTACCCTTGT	0.612													A	19626126	G	A	19626126	2	1	272	1	0	0	0	0	0	0	0	1	16669	1103	39	1		1	TSSK6	19	19626126	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	287847	19626126	39502857	1888	136999											
GMIP	51291	broad.mit.edu	37	chr19	19741101	19741101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcggctgaagtggccacGagactgtgtccccaggagtg	16	11	0	2	rs138311100		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19741101G>A	uc002nnd.2	-	21	2701	c.2584C>T	c.(2584-2586)CGT>TGT	p.R862C	LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.R836C|GMIP_uc010xrc.1_Missense_Mutation_p.R833C	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	862					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						AAGTGGCCACGAGACTGTGTC	0.622													A	19741101	G	A	19741101	3	1	272	1	0	0	0	0	1	0	0	0	6491	1058	37	1	332	1	GMIP	19	19741101	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	114975	19741101	39387882	1889	137000											
ZNF14	7561	broad.mit.edu	37	chr19	19822955	19822955	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagttctttcatgcaatcGaagagaaatggaccaactga	9	7	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19822955G>A	uc002nnk.1	-	4	1289	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	379	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				TCATGCAATCGAAGAGAAATG	0.378													A	19822955	G	A	19822955	4	1	272	1	0	0	0	0	0	1	0	0	17725	1066	37	1	797	1	ZNF14	19	19822955	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	81854	19822955	39306028	1890	137001											
DPY19L3	147991	broad.mit.edu	37	chr19	32971337	32971337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgccaagagggcaccagaGgaagtgcatgccctcctaag	12	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:32971337G>T	uc002ntg.2	+	18	2039	c.1863G>T	c.(1861-1863)GAG>GAT	p.E621D	DPY19L3_uc002nth.1_Missense_Mutation_p.E621D|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.E43D	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	621						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					GGGCACCAGAGGAAGTGCATG	0.517													T	32971337	G	T	32971337	3	4	272	1	0	0	0	0	1	0	0	0	4742	991	35	5	1929	5	DPY19L3	19	32971337	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	13148382	32971337	26157646	1891	137002											
RHPN2	85415	broad.mit.edu	37	chr19	33486994	33486994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctggtgctgggcgtacGtgagccgggagcgttcctgt	16	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:33486994G>A	uc002nuf.2	-	11	1424	c.1358C>T	c.(1357-1359)ACG>ATG	p.T453M	RHPN2_uc010xro.1_Missense_Mutation_p.T302M|RHPN2_uc002nue.2_Missense_Mutation_p.T183M	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	453	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					CTGGGCGTACGTGAGCCGGGA	0.627													A	33486994	G	A	33486994	3	1	272	1	0	0	0	0	1	0	0	0	13351	1145	40	1	722	1	RHPN2	19	33486994	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	515657	33486994	25641989	1892	137003											
LRP3	4037	broad.mit.edu	37	chr19	33697149	33697149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcatgggtgcctggcCgccgtgccccgcaaggtcat	15	13	1	1	rs139298570		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:33697149C>T	uc010edh.2	+	5	1566	c.1473C>T	c.(1471-1473)GCC>GCT	p.A491A	LRP3_uc010xrp.1_Silent_p.A365A|LRP3_uc002nuk.3_Silent_p.A365A	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	491	Extracellular (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					GGTGCCTGGCCGCCGTGCCCC	0.657													T	33697149	C	T	33697149	2	4	272	1	0	0	0	0	0	0	0	1	8958	639	23	1		1	LRP3	19	33697149	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	210155	33697149	25431834	1893	137004											
LRP3	4037	broad.mit.edu	37	chr19	33698276	33698276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaggacagaaaggtctGcagggagccactggtagacg	16	8	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:33698276G>A	uc010edh.2	+	7	2201	c.2108G>A	c.(2107-2109)TGC>TAC	p.C703Y	LRP3_uc002nuk.3_Missense_Mutation_p.C577Y	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	703	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					AGAAAGGTCTGCAGGGAGCCA	0.701													A	33698276	G	A	33698276	3	1	272	1	0	0	0	0	1	0	0	0	8958	1319	46	2	2134	2	LRP3	19	33698276	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1127	33698276	25430707	1894	137005											
GPI	2821	broad.mit.edu	37	chr19	34868469	34868469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacggacgtcatcaacaTtggcattggcggctccgacc	10	14	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:34868469T>G	uc002nvg.1	+	5	567	c.464T>G	c.(463-465)ATT>AGT	p.I155S	GPI_uc002nvf.2_Missense_Mutation_p.I194S|GPI_uc010xrv.1_Intron|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Missense_Mutation_p.I155S	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	155					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					GTCATCAACATTGGCATTGGC	0.597													G	34868469	T	G	34868469	3	3	272	1	0	0	0	0	1	0	0	0	6611	1493	52	5	603	5	GPI	19	34868469	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1170193	34868469	24260514	1895	137006											
MAG	4099	broad.mit.edu	37	chr19	35800942	35800942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgtgtactcggagcgcaGcggcctcgtgctcaccagca	13	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:35800942G>A	uc002nyy.1	+	8	1546	c.1397G>A	c.(1396-1398)AGC>AAC	p.S466N	MAG_uc002nyx.1_Missense_Mutation_p.S466N|MAG_uc010eds.1_Missense_Mutation_p.S441N|MAG_uc002nyz.1_Missense_Mutation_p.S466N	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	466	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			TCGGAGCGCAGCGGCCTCGTG	0.677													A	35800942	G	A	35800942	3	1	272	1	0	0	0	0	1	0	0	0	9162	971	34	2	1419	2	MAG	19	35800942	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	932473	35800942	23328041	1896	137007											
RBM42	79171	broad.mit.edu	37	chr19	36124806	36124806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagcccctgcccctccCgttggaggtcgtccgcggcc	13	19	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36124806C>T	uc002oan.2	+	7	978	c.902C>T	c.(901-903)CCG>CTG	p.P301L	RBM42_uc010eef.2_Missense_Mutation_p.P247L|RBM42_uc002oao.2_Missense_Mutation_p.P279L|RBM42_uc002oap.2_Missense_Mutation_p.P271L|RBM42_uc002oaq.2_Missense_Mutation_p.P272L|RBM42_uc010eeg.2_Missense_Mutation_p.P272L	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	301	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	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)			CTGCCCCTCCCGTTGGAGGTC	0.746													T	36124806	C	T	36124806	3	4	272	1	0	0	0	0	1	0	0	0	13136	652	23	1	928	1	RBM42	19	36124806	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	323864	36124806	23004177	1897	137008											
ARHGAP33	115703	broad.mit.edu	37	chr19	36277879	36277879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcctgcgcccccatcTcatacccctgctgctgcgag	10	19	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36277879T>G	uc002obr.1	+	20	2592	c.2507T>G	c.(2506-2508)CTC>CGC	p.L836R	ARHGAP33_uc002obs.1_Missense_Mutation_p.L675R|ARHGAP33_uc002obt.1_Missense_Mutation_p.L700R|ARHGAP33_uc010eel.2_Missense_Mutation_p.L424R|ARHGAP33_uc002obv.1_Missense_Mutation_p.L424R	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	836					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CGCCCCCATCTCATACCCCTG	0.706													G	36277879	T	G	36277879	3	3	272	1	0	0	0	0	1	0	0	0	882	1551	54	5	2585	5	ARHGAP33	19	36277879	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	153073	36277879	22851104	1898	137009											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278542	36278542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccatgttctgtcccctcAcaggttcctacccccggctt	6	19	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36278542A>G	uc002obs.1	+	21	2677	c.2592A>G	c.(2590-2592)TCA>TCG	p.S864S	ARHGAP33_uc002obt.1_Intron|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.S613S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CTGTCCCCTCACAGGTTCCTA	0.701													G	36278542	A	G	36278542	2	3	272	1	0	0	0	0	0	0	0	1	882	146	6	3		3	ARHGAP33	19	36278542	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	663	36278542	22850441	1899	137010											
NFKBID	84807	broad.mit.edu	37	chr19	36380854	36380854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattctccaggttgcgcaGtgtggggtccgccccagctg	13	14	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36380854G>A	uc002oci.1	-	11	1400	c.826C>T	c.(826-828)CTG>TTG	p.L276L	NFKBID_uc002och.1_Silent_p.L113L|NFKBID_uc002ocj.1_Silent_p.L291L	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	276	ANK 6.				inflammatory response	nucleus					0						AGGTTGCGCAGTGTGGGGTCC	0.701													A	36380854	G	A	36380854	2	1	272	1	0	0	0	0	0	0	0	1	10379	1020	36	4		4	NFKBID	19	36380854	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	102312	36380854	22748129	1900	137011											
COX7A1	1346	broad.mit.edu	37	chr19	36642444	36642446	+	In_Frame_Del	DEL	TCC	TCC	-													ggtacaacgggatgtcattgTcctcctggatgtgggggtgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36642443_36642445GTCC>G	uc002odm.1	-	2	568_570	c.106_108GGAC>C	c.(106-108)gac>C	p.D36del		NM_001864	NP_001855	P24310	CX7A1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) (COX7A1), nuclear gene encoding mitochondrial protein, mRNA.	36					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGATGTCATTGTCCTCCTGGATG	0.66													-	36642446	TCC	-	36642444	7	5	272	1	0	1	0	1	0	0	0	0	3779	1667	58	0	140	0	COX7A1	19	36642444	In_Frame_Del	DEL	TCC	TCGA-HU-A4GQ-01A-11D-A25D-08	261590	36642444	22486539	1901	137012											
ZNF420	147923	broad.mit.edu	37	chr19	37580028	37580028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctaaaaaccatggctcGggtaaattggagtttccttg	10	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:37580028G>A	uc002ofl.2	+	3	223	c.8G>A	c.(7-9)CGG>CAG	p.R3Q		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCATGGCTCGGGTAAATTGG	0.428													A	37580028	G	A	37580028	3	1	272	1	0	0	0	0	1	0	0	0	17894	1130	39	1	10	1	ZNF420	19	37580028	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	937584	37580028	21548955	1902	137013											
SIPA1L3	23094	broad.mit.edu	37	chr19	38621145	38621145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcctgcaggtgatgaCcagtggctgggagacggtgg	19	8	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38621145C>T	uc002ohk.2	+	10	3385	c.2876C>T	c.(2875-2877)ACC>ATC	p.T959I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	959					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGTGATGACCAGTGGCTGG	0.627													T	38621145	C	T	38621145	3	4	272	1	0	0	0	0	1	0	0	0	14331	507	18	4	2906	4	SIPA1L3	19	38621145	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1041117	38621145	20507838	1903	137014											
CATSPERG	57828	broad.mit.edu	37	chr19	38853439	38853439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctcggtgaagcaggaGgtcctgattaatcgcaactc	13	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38853439G>T	uc002oih.3	+	20	2529	c.2442G>T	c.(2440-2442)GAG>GAT	p.E814D	CATSPERG_uc002oig.3_Missense_Mutation_p.E774D|CATSPERG_uc002oif.3_Missense_Mutation_p.E454D|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	814	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TGAAGCAGGAGGTCCTGATTA	0.542													T	38853439	G	T	38853439	3	4	272	1	0	0	0	0	1	0	0	0	2692	991	35	5	2516	5	CATSPERG	19	38853439	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	232294	38853439	20275544	1904	137015											
GGN	199720	broad.mit.edu	37	chr19	38876239	38876239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accactgctgtcaggcacggTagctgtagctcgttcgcgag	13	12	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38876239T>C	uc002oij.1	-	3	1798	c.1663A>G	c.(1663-1665)ACC>GCC	p.T555A	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	555	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCAGGCACGGTAGCTGTAGCT	0.677													C	38876239	T	C	38876239	3	2	272	1	0	0	0	0	1	0	0	0	6358	1638	57	3	303	3	GGN	19	38876239	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	22800	38876239	20252744	1905	137016											
SPRED3	399473	broad.mit.edu	37	chr19	38886249	38886249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccacccgcgcccctcGccctgtccacctgcgtcgtg	11	22	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38886249G>A	uc002oim.2	+	5	701	c.697G>A	c.(697-699)GCC>ACC	p.A233T		NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	233	KBD.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCGCCCCTCGCCCTGTCCAC	0.736													A	38886249	G	A	38886249	3	1	272	1	0	0	0	0	1	0	0	0	15093	1087	38	1	755	1	SPRED3	19	38886249	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10010	38886249	20242734	1906	137017											
FAM98C	147965	broad.mit.edu	37	chr19	38899423	38899423	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacgttccagaccgggggggCcgcccaaatgagctggagcc	15	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38899423C>G	uc002oin.1	+	8	970	c.951C>G	c.(949-951)GGC>GGG	p.G317G	FAM98C_uc002oio.1_Silent_p.G235G|FAM98C_uc010xtz.1_Missense_Mutation_p.P184A	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	317										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCGGGGGGGCCGCCCAAATG	0.547													G	38899423	C	G	38899423	2	3	272	1	0	0	0	0	0	0	0	1	5658	726	26	5		5	FAM98C	19	38899423	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13174	38899423	20229560	1907	137018											
RYR1	6261	broad.mit.edu	37	chr19	39005673	39005673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctccctcagtggacgaCgtccaggtctcttgctaccg	10	15	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39005673C>T	uc002oit.2	+	64	9610	c.9480C>T	c.(9478-9480)GAC>GAT	p.D3160D	RYR1_uc002oiu.2_Silent_p.D3160D|RYR1_uc002oiv.1_Silent_p.D80D|RYR1_uc010xuf.1_Silent_p.D80D	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3160					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGTGGACGACGTCCAGGTCT	0.582											OREG0025449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	39005673	C	T	39005673	2	4	272	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	39005673	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	106250	39005673	20123310	1908	137019											
ACTN4	81	broad.mit.edu	37	chr19	39220045	39220045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactacaagtccttctccacGgccttgtatggcgagagcga	11	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39220045G>A	uc002oja.1	+	21	2768	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	ACTN4_uc002ojb.1_Silent_p.T225T	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	903					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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTCTCCACGGCCTTGTATG	0.687													A	39220045	G	A	39220045	2	1	272	1	0	0	0	0	0	0	0	1	207	1103	39	1		1	ACTN4	19	39220045	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	214372	39220045	19908938	1909	137020											
CAPN12	147968	broad.mit.edu	37	chr19	39230781	39230781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtctcagatagagcacCtcgcccacgccgcctgtgaa	9	14	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39230781C>A	uc002ojd.1	-	5	948	c.639G>T	c.(637-639)GAG>GAT	p.E213D		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	213	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GATAGAGCACCTCGCCCACGC	0.627													A	39230781	C	A	39230781	3	1	272	1	0	0	0	0	1	0	0	0	2625	680	24	5	1588	5	CAPN12	19	39230781	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	10736	39230781	19898202	1910	137021											
TIMM50	92609	broad.mit.edu	37	chr19	39971205	39971205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcctcagctttatctctGggcaataagtgtgatccctt	9	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39971205G>A	uc002olu.1	+	1	154	c.21G>A	c.(19-21)CTG>CTA	p.L7L	TIMM50_uc002olt.1_RNA	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	Error:Variant_position_missing_in_Q3ZCQ8_after_alignment					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	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)			CTTTATCTCTGGGCAATAAGT	0.542													A	39971205	G	A	39971205	2	1	272	1	0	0	0	0	0	0	0	1	15910	1335	47	4		4	TIMM50	19	39971205	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	740424	39971205	19157778	1911	137022											
DLL3	10683	broad.mit.edu	37	chr19	39997718	39997718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccacgccctgcgctgccGctgccgcgccggcttcgcgg	16	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39997718G>A	uc002olx.2	+	7	1191	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	DLL3_uc002olw.2_Missense_Mutation_p.R378H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	378	EGF-like 4.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	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)			CTGCGCTGCCGCTGCCGCGCC	0.766													A	39997718	G	A	39997718	3	1	272	1	0	0	0	0	1	0	0	0	4567	1087	38	1	1159	1	DLL3	19	39997718	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	26513	39997718	19131265	1912	137023											
AKT2	208	broad.mit.edu	37	chr19	40762839	40762839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccaagacacacctgctaCggagaagttgtttaaggggg	12	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:40762839C>T	uc002onf.2	-	3	431	c.169G>A	c.(169-171)GTA>ATA	p.V57I	AKT2_uc010egs.2_Missense_Mutation_p.V57I|AKT2_uc010egt.2_5'UTR|AKT2_uc010xvj.1_5'UTR|AKT2_uc010egu.1_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.V57I	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	57	PH.				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			lung(2)	2			Lung(22;0.000499)			ACACCTGCTACGGAGAAGTTG	0.557			A		ovarian|pancreatic 								T	40762839	C	T	40762839	3	4	272	1	0	0	0	0	1	0	0	0	480	536	19	1	1324	1	AKT2	19	40762839	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	765121	40762839	18366144	1913	137024											
AXL	558	broad.mit.edu	37	chr19	41744408	41744408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagaacattagtgctaCgcggaatgggagccaggcct	13	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:41744408C>T	uc010ehj.2	+	8	1218	c.1028C>T	c.(1027-1029)ACG>ATG	p.T343M	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.T343M|AXL_uc010ehk.2_Missense_Mutation_p.T343M	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	343	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						ATTAGTGCTACGCGGAATGGG	0.662													T	41744408	C	T	41744408	3	4	272	1	0	0	0	0	1	0	0	0	1238	536	19	1	1058	1	AXL	19	41744408	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	981569	41744408	17384575	1914	137025											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41810040	41810040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccccagcagccaccGccaccacccagctacagccc	5	25	0	0	rs148483967		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:41810040G>A	uc002oqb.3	+	13	2425	c.2136G>A	c.(2134-2136)CCG>CCA	p.P712P	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.P612P|HNRNPUL1_uc002oqa.3_Silent_p.P612P|HNRNPUL1_uc010ehm.2_Silent_p.P712P|HNRNPUL1_uc002oqc.3_Silent_p.P598P|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.P612P|HNRNPUL1_uc010ehn.2_Silent_p.P612P|HNRNPUL1_uc010eho.2_Silent_p.P612P|HNRNPUL1_uc010xvy.1_Silent_p.P612P|HNRNPUL1_uc010ehp.2_Silent_p.P568P|HNRNPUL1_uc002oqf.3_Silent_p.P236P	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	712	Pro-rich.|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			central_nervous_system(1)|skin(1)	2						agcagccaccgccaccaccCA	0.413													A	41810040	G	A	41810040	2	1	272	1	0	0	0	0	0	0	0	1	7274	1074	38	1		1	HNRNPUL1	19	41810040	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	65632	41810040	17318943	1915	137026											
MEGF8	1954	broad.mit.edu	37	chr19	42879930	42879930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgacaccttcgtggtccGtgtggcccctgacactggcg	12	14	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:42879930G>A	uc002otl.3	+	41	7975	c.7340G>A	c.(7339-7341)CGT>CAT	p.R2447H	MEGF8_uc002otm.3_Missense_Mutation_p.R2055H|MEGF8_uc002otn.3_Missense_Mutation_p.R108H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2514	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TTCGTGGTCCGTGTGGCCCCT	0.652													A	42879930	G	A	42879930	3	1	272	1	0	0	0	0	1	0	0	0	9463	1145	40	1	7502	1	MEGF8	19	42879930	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1069890	42879930	16249053	1916	137027											
LIPE	3991	broad.mit.edu	37	chr19	42909669	42909669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaccagccccatcatgcCgagggctttctggtctgagt	11	15	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:42909669C>A	uc002otr.2	-	8	2687	c.2410G>T	c.(2410-2412)GGC>TGC	p.G804C	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	804					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CCCATCATGCCGAGGGCTTTC	0.577													A	42909669	C	A	42909669	3	1	272	1	0	0	0	0	1	0	0	0	8821	652	23	5	832	5	LIPE	19	42909669	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	29739	42909669	16219314	1917	137028											
PSG7	5676	broad.mit.edu	37	chr19	43433781	43433781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacaggtagcttgcatcTggagtctcaggatcacaggt	11	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:43433781T>C	uc002ovl.3	-	4	624	c.522A>G	c.(520-522)CCA>CCG	p.P174P	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.P52P	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	174	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				AGCTTGCATCTGGAGTCTCAG	0.532													C	43433781	T	C	43433781	2	2	272	1	0	0	0	0	0	0	0	1	12660	1567	55	3		3	PSG7	19	43433781	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	524112	43433781	15695202	1918	137029											
ZNF404	342908	broad.mit.edu	37	chr19	44378024	44378024	+	Frame_Shift_Del	DEL	T	T	-													tgtagaggaagggatttatgTtttttgaatatcatttgact							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:44378023_44378023GT>G	uc002oxs.4	-	1	334	c.334_334AC>C	c.(334-336)catfs	p.H112fs		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	115					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)				AGGGATTTATGTTTTTTGAAT	0.333													-	44378024	T	-	44378024	7	5	272	1	0	1	0	1	0	0	0	0	17883	1722	60	0	1320	0	ZNF404	19	44378024	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	944243	44378024	14750959	1919	137030											
CEACAM16	388551	broad.mit.edu	37	chr19	45206716	45206716	+	Frame_Shift_Del	DEL	G	G	-													ctggtcgtccatgggctttcGggggaactgctcgcctacag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45206715_45206715CG>C	uc010xxd.2	+	2	340	c.134_134CG>C	c.(133-135)tcgfs	p.S45fs		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	45										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)				CATGGGCTTTCGGGGGAACTG	0.622													-	45206716	G	-	45206716	7	5	272	1	0	1	0	1	0	0	0	0	3188	1103	39	0	141	0	CEACAM16	19	45206716	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	828692	45206716	13922267	1920	137031											
APOC4	346	broad.mit.edu	37	chr19	45451758	45451759	+	RNA	DEL	CT	CT	-													gggcacacgactcctcccagCtctgtttcttgtcctcctgg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45451757_45451758GCT>G	uc002pah.3	+	3		c.1229_1230GCT>G			APOC4_uc021uvn.1_Non-coding_Transcript	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		ACTCCTCCCAGCTCTGTTTCTT	0.599													-	45451759	CT	-	45451758	6	5	272	0	1	1	0	1	0	0	0	0	800	797	28	0		0	APOC4	19	45451758	RNA	DEL	CT	TCGA-HU-A4GQ-01A-11D-A25D-08	245042	45451758	13677225	1921	137032											
RELB	5971	broad.mit.edu	37	chr19	45515294	45515294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtctcgcggggctgcGtccctgagcacggtcaccct	14	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45515294G>A	uc002paj.1	+	5	390	c.264G>A	c.(262-264)GCG>GCA	p.A88A		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	88						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGGGCTGCGTCCCTGAGCA	0.746													A	45515294	G	A	45515294	2	1	272	1	0	0	0	0	0	0	0	1	13217	1132	40	1		1	RELB	19	45515294	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	63536	45515294	13613689	1922	137033											
ZNF296	162979	broad.mit.edu	37	chr19	45575278	45575278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccactgccaggagcccCgggttcctggacacctgctg	12	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45575278C>T	uc002pao.2	-	3	1066	c.1009G>A	c.(1009-1011)GGG>AGG	p.G337R		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	337					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCAGGAGCCCCGGGTTCCTGG	0.667													T	45575278	C	T	45575278	3	4	272	1	0	0	0	0	1	0	0	0	17825	652	23	1	422	1	ZNF296	19	45575278	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	59984	45575278	13553705	1923	137034											
EXOC3L2	90332	broad.mit.edu	37	chr19	45731456	45731456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccaggctgctgggctgGtcctccaggctcccccagtg	15	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45731456G>A	uc002pay.1	-	3	200	c.159C>T	c.(157-159)GAC>GAT	p.D53D		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	53										ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TGCTGGGCTGGTCCTCCAGGC	0.652													A	45731456	G	A	45731456	2	1	272	1	0	0	0	0	0	0	0	1	5305	1252	44	4		4	EXOC3L2	19	45731456	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	156178	45731456	13397527	1924	137035											
EML2	24139	broad.mit.edu	37	chr19	46137614	46137614	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgtcccaggtagtgtcGctgcctctgctcctccacgc	11	15	1	0	rs35928591		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46137614G>A	uc002pcn.2	-	4	330	c.295C>T	c.(295-297)CGA>TGA	p.R99*	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Nonsense_Mutation_p.R246*|EML2_uc010xxm.1_Nonsense_Mutation_p.R300*|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Nonsense_Mutation_p.R99*|EML2_uc010ekj.2_Nonsense_Mutation_p.R99*	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	99					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		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)		AGGTAGTGTCGCTGCCTCTGC	0.607													A	46137614	G	A	46137614	4	1	272	1	0	0	0	0	0	1	0	0	5097	1095	38	1	1718	1	EML2	19	46137614	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	406158	46137614	12991369	1925	137036											
QPCTL	54814	broad.mit.edu	37	chr19	46205070	46205070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagagaagcgtctgcacCgtttgaacctgctgcagtct	10	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46205070C>T	uc010xxr.1	+	6	1122	c.901C>T	c.(901-903)CGT>TGT	p.R301C	QPCTL_uc010ekn.2_Missense_Mutation_p.R207C	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	301					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			skin(1)	1		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)		GCGTCTGCACCGTTTGAACCT	0.567													T	46205070	C	T	46205070	3	4	272	1	0	0	0	0	1	0	0	0	12875	652	23	1	923	1	QPCTL	19	46205070	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	67456	46205070	12923913	1926	137037											
FBXO46	23403	broad.mit.edu	37	chr19	46215486	46215486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccggggagtcggccgggGgtggctccgggggcccgtcc	22	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46215486G>A	uc002pcy.2	-	2	1393	c.1268C>T	c.(1267-1269)CCC>CTC	p.P423L	FBXO46_uc002pcz.2_Missense_Mutation_p.P423L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	423							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		GTCGGCCGGGGGTGGCTCCGG	0.731													A	46215486	G	A	46215486	3	1	272	1	0	0	0	0	1	0	0	0	5755	1232	43	4	547	4	FBXO46	19	46215486	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10416	46215486	12913497	1927	137038											
DMPK	1760	broad.mit.edu	37	chr19	46282701	46282701	+	Frame_Shift_Del	DEL	C	C	-													ccgcccagcccctcacctcgCccctcttcagcatgtcccac							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46282700_46282700GC>G	uc002pdi.1	-	3	597	c.411_411GC>C	c.(409-411)ggcfs	p.G137fs	DMPK_uc010xxs.1_Frame_Shift_Del_p.G22fs|DMPK_uc002pdd.1_Frame_Shift_Del_p.G121fs|DMPK_uc002pde.1_Frame_Shift_Del_p.G121fs|DMPK_uc002pdg.1_Frame_Shift_Del_p.G111fs|DMPK_uc002pdf.1_Frame_Shift_Del_p.G111fs|DMPK_uc002pdh.1_Frame_Shift_Del_p.G111fs|DMPK_uc010xxt.1_Frame_Shift_Del_p.G111fs|DMPK_uc010xxu.1_Frame_Shift_Del_p.G121fs	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	121	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCCTCACCTCGCCCCTCTTCA	0.622													-	46282701	C	-	46282701	7	5	272	1	0	1	0	1	0	0	0	0	4584	739	26	0	1616	0	DMPK	19	46282701	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	67215	46282701	12846282	1928	137039											
FOXA3	3171	broad.mit.edu	37	chr19	46375522	46375522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggtgtcagcggtggcAgcagcagctccgggtacggg	19	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46375522A>G	uc002pdr.2	+	2	456	c.259A>G	c.(259-261)AGC>GGC	p.S87G		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	87					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)	1		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)		CAGCGGTGGCAGCAGCAGCTC	0.731													G	46375522	A	G	46375522	3	3	272	1	0	0	0	0	1	0	0	0	5991	188	7	3	265	3	FOXA3	19	46375522	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	92821	46375522	12753461	1929	137040											
IRF2BP1	26145	broad.mit.edu	37	chr19	46387909	46387909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacggcgcggcgtgggcGccaggttccgggatggggct	21	11	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46387909G>A	uc002pds.1	-	1	1468	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		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)		CGGCGTGGGCGCCAGGTTCCG	0.756													A	46387909	G	A	46387909	3	1	272	1	0	0	0	0	1	0	0	0	7829	1087	38	1	634	1	IRF2BP1	19	46387909	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	12387	46387909	12741074	1930	137041											
PRKD2	25865	broad.mit.edu	37	chr19	47177930	47177930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacgtcgtcactctcatgCgtgatgtatcgctctcccat	8	15	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47177930C>T	uc002pfh.2	-	19	2829	c.2487G>A	c.(2485-2487)ACG>ACA	p.T829T	PRKD2_uc002pfd.2_Silent_p.T203T|PRKD2_uc010eks.2_Silent_p.T232T|PRKD2_uc010ekt.2_Silent_p.T96T|PRKD2_uc002pfe.2_Silent_p.T359T|PRKD2_uc002pff.2_Silent_p.T349T|PRKD2_uc002pfg.2_Silent_p.T672T|PRKD2_uc002pfi.2_Silent_p.T829T|PRKD2_uc002pfj.2_Silent_p.T829T|PRKD2_uc010xye.1_Silent_p.T839T|PRKD2_uc002pfk.2_Silent_p.T672T	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	829					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			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		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)		CACTCTCATGCGTGATGTATC	0.637													T	47177930	C	T	47177930	2	4	272	1	0	0	0	0	0	0	0	1	12519	755	27	1		1	PRKD2	19	47177930	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	790021	47177930	11951053	1931	137042											
C5AR1	728	broad.mit.edu	37	chr19	47823236	47823236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacggcattcgaggccaagCggaccatcaatgccatctgg	12	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47823236C>T	uc002pgj.1	+	2	251	c.202C>T	c.(202-204)CGG>TGG	p.R68W		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	68	Cytoplasmic (Potential).				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			ovary(2)|central_nervous_system(1)|skin(1)	4		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)		CGAGGCCAAGCGGACCATCAA	0.577													T	47823236	C	T	47823236	3	4	272	1	0	0	0	0	1	0	0	0	2281	759	27	1	207	1	C5AR1	19	47823236	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	645306	47823236	11305747	1932	137043											
C5AR1	728	broad.mit.edu	37	chr19	47823428	47823428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctggccaccatcagcGccgaccgctttctgctggtg	11	16	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47823428G>A	uc002pgj.1	+	2	443	c.394G>A	c.(394-396)GCC>ACC	p.A132T		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	132	Helical; Name=3; (Potential).				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			ovary(2)|central_nervous_system(1)|skin(1)	4		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)		CACCATCAGCGCCGACCGCTT	0.632													A	47823428	G	A	47823428	3	1	272	1	0	0	0	0	1	0	0	0	2281	1087	38	1	399	1	C5AR1	19	47823428	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	192	47823428	11305555	1933	137044											
C5AR1	728	broad.mit.edu	37	chr19	47823993	47823993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctccccagcctcctccGgaacgtgttgactgaagagt	9	15	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47823993G>A	uc002pgj.1	+	2	1008	c.959G>A	c.(958-960)CGG>CAG	p.R320Q		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	320	Cytoplasmic (Potential).				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			ovary(2)|central_nervous_system(1)|skin(1)	4		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)		AGCCTCCTCCGGAACGTGTTG	0.592													A	47823993	G	A	47823993	3	1	272	1	0	0	0	0	1	0	0	0	2281	1116	39	1	964	1	C5AR1	19	47823993	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	565	47823993	11304990	1934	137045											
CABP5	56344	broad.mit.edu	37	chr19	48537535	48537535	+	Frame_Shift_Del	DEL	G	G	-													gacaacctcagagatctcccGgggggtgagccgctccccca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:48537534_48537534CG>C	uc002phu.2	-	4	566	c.434_434CG>G	c.(433-435)cggfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	145	EF-hand 4.				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)		AGAGATCTCCCGGGGGGTGAG	0.597													-	48537535	G	-	48537535	7	5	272	1	0	1	0	1	0	0	0	0	2534	1115	39	0	96	0	CABP5	19	48537535	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	713542	48537535	10591448	1935	137046											
GRIN2D	2906	broad.mit.edu	37	chr19	48917652	48917652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagctgggagcagcagaCgctccgcctcaagtacccgc	14	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:48917652C>T	uc002pjc.3	+	5	1311	c.1223C>T	c.(1222-1224)ACG>ATG	p.T408M		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	408	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		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)	GAGCAGCAGACGCTCCGCCTC	0.632													T	48917652	C	T	48917652	3	4	272	1	0	0	0	0	1	0	0	0	6782	536	19	1	1237	1	GRIN2D	19	48917652	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	380117	48917652	10211331	1936	137047											
NOSIP	51070	broad.mit.edu	37	chr19	50059063	50059063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcttcactccggagcccGcgaagccggtaccgccctgg	13	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50059063G>A	uc002pok.2	-	10	1003	c.851C>T	c.(850-852)GCG>GTG	p.A284V	NOSIP_uc002pol.2_Missense_Mutation_p.A284V	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	284					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TCCGGAGCCCGCGAAGCCGGT	0.647													A	50059063	G	A	50059063	3	1	272	1	0	0	0	0	1	0	0	0	10545	1087	38	1	58	1	NOSIP	19	50059063	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1141411	50059063	9069920	1937	137048											
SCAF1	58506	broad.mit.edu	37	chr19	50154472	50154474	+	In_Frame_Del	DEL	GAA	GAA	-													aggaagaggaggaggaagagGaagaagaagaggaagaggaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50154471_50154473GGAA>G	uc002poq.3	+	6	949_951	c.825_827GGAA>G	c.(823-828)gaggaa>gaGa	p.275_276EE>E		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	275	Glu-rich.				RNA splicing|mRNA processing	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)		aggaggaagaggaagaagaagag	0.606													-	50154474	GAA	-	50154472	7	5	272	1	0	1	0	1	0	0	0	0	13868	1175	41	0	848	0	SCAF1	19	50154472	In_Frame_Del	DEL	GAA	TCGA-HU-A4GQ-01A-11D-A25D-08	95409	50154472	8974511	1938	137049											
CPT1C	126129	broad.mit.edu	37	chr19	50204806	50204806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggacttcgactggaccgCggtcctggcgcaggaattcc	14	13	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50204806C>T	uc002ppj.2	+	6	813	c.608C>T	c.(607-609)GCG>GTG	p.A203V	CPT1C_uc002ppl.3_Missense_Mutation_p.A169V|CPT1C_uc002ppi.2_Missense_Mutation_p.A120V|CPT1C_uc002ppk.2_Missense_Mutation_p.A203V|CPT1C_uc010eng.2_Missense_Mutation_p.A203V|CPT1C_uc010enh.2_Missense_Mutation_p.A203V|CPT1C_uc010ybc.1_Missense_Mutation_p.A41V	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	203	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		GACTGGACCGCGGTCCTGGCG	0.562													T	50204806	C	T	50204806	3	4	272	1	0	0	0	0	1	0	0	0	3833	768	27	1	626	1	CPT1C	19	50204806	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	50334	50204806	8924177	1939	137050											
CPT1C	126129	broad.mit.edu	37	chr19	50208533	50208533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagatcttcaacaccacGcggattccaggggtccaaaa	10	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50208533G>A	uc002ppj.2	+	9	1147	c.942G>A	c.(940-942)ACG>ACA	p.T314T	CPT1C_uc002ppl.3_Silent_p.T280T|CPT1C_uc002ppi.2_Silent_p.T231T|CPT1C_uc002ppk.2_Silent_p.T303T|CPT1C_uc010eng.2_Silent_p.T314T|CPT1C_uc010enh.2_Silent_p.T314T|CPT1C_uc010ybc.1_Silent_p.T185T|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	314	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		TCAACACCACGCGGATTCCAG	0.443													A	50208533	G	A	50208533	2	1	272	1	0	0	0	0	0	0	0	1	3833	1074	38	1		1	CPT1C	19	50208533	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3727	50208533	8920450	1940	137051											
PNKP	11284	broad.mit.edu	37	chr19	50365310	50365310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcataccctgttcacGtggacatatccggccgacac	9	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50365310G>A	uc002pqh.2	-	12	1231	c.1179C>T	c.(1177-1179)CAC>CAT	p.H393H	PNKP_uc002pqg.2_Silent_p.H174H|PNKP_uc002pqi.2_Silent_p.H354H|PNKP_uc002pqj.2_Silent_p.H393H|PNKP_uc010enm.2_Silent_p.H362H|PNKP_uc002pqk.2_Silent_p.H393H	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	393					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			ovary(1)|kidney(1)	2		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)		CCCTGTTCACGTGGACATATC	0.582								Other_BER_factors					A	50365310	G	A	50365310	2	1	272	1	0	0	0	0	0	0	0	1	12147	1136	40	1		1	PNKP	19	50365310	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	156777	50365310	8763673	1941	137052											
KLK3	354	broad.mit.edu	37	chr19	51359531	51359531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtctcggattgtgggaGgctgggagtgcgagaagcat	17	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51359531G>T	uc002pts.1	+	2	123	c.82G>T	c.(82-84)GGC>TGC	p.G28C	KLK3_uc002ptp.1_Missense_Mutation_p.G28C|KLK3_uc010ycj.1_Missense_Mutation_p.G28C|KLK3_uc002ptr.1_Missense_Mutation_p.G28C|KLK3_uc010eof.1_RNA	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	28	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GATTGTGGGAGGCTGGGAGTG	0.632													T	51359531	G	T	51359531	3	4	272	1	0	0	0	0	1	0	0	0	8405	1000	35	5	88	5	KLK3	19	51359531	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	994221	51359531	7769452	1942	137053											
KLK9	284366	broad.mit.edu	37	chr19	51512561	51512561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttggggcgacattcctcGgccccgatggcacgggtgtc	16	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51512561G>A	uc002pux.1	-	2	165	c.78C>T	c.(76-78)GCC>GCT	p.A26A	KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Intron	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	26	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GACATTCCTCGGCCCCGATGG	0.662													A	51512561	G	A	51512561	2	1	272	1	0	0	0	0	0	0	0	1	8411	1103	39	1		1	KLK9	19	51512561	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	153030	51512561	7616422	1943	137054											
KLK12	43849	broad.mit.edu	37	chr19	51535220	51535220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggggcaggggttgaacGctgctggttacgcggacggg	21	8	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51535220G>A	uc002pvg.1	-	3	489	c.369C>T	c.(367-369)AGC>AGT	p.S123S	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Silent_p.S123S|KLK12_uc002pvi.1_Silent_p.S123S|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	123	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGGGTTGAACGCTGCTGGTTA	0.677													A	51535220	G	A	51535220	2	1	272	1	0	0	0	0	0	0	0	1	8400	1078	38	1		1	KLK12	19	51535220	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	22659	51535220	7593763	1944	137055											
CD33	945	broad.mit.edu	37	chr19	51729600	51729600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaactggtatctttccaGgagatggctcaggtaggaag	12	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51729600G>A	uc002pwa.2	+	4	773	c.733G>A	c.(733-735)GGA>AGA	p.G245R	CD33_uc010eos.1_Missense_Mutation_p.G245R|CD33_uc010eot.1_Missense_Mutation_p.G118R|CD33_uc010eou.1_Intron	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	245	Extracellular (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TATCTTTCCAGGAGATGGCTC	0.498													A	51729600	G	A	51729600	3	1	272	1	0	0	0	0	1	0	0	0	3005	1001	35	4	747	4	CD33	19	51729600	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	194380	51729600	7399383	1945	137056											
SIGLEC6	946	broad.mit.edu	37	chr19	52033157	52033157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgtgcaggggggttgCcgtcagcatcacagagcagc	16	10	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:52033157C>A	uc002pwy.2	-	5	995	c.833G>T	c.(832-834)GGC>GTC	p.G278V	SIGLEC6_uc002pwz.2_Missense_Mutation_p.G262V|SIGLEC6_uc002pxa.2_Missense_Mutation_p.G278V|SIGLEC6_uc010ydb.1_Missense_Mutation_p.G215V|SIGLEC6_uc010ydc.1_Missense_Mutation_p.G278V|SIGLEC6_uc010eoz.1_Missense_Mutation_p.G256V|SIGLEC6_uc010epb.1_Missense_Mutation_p.G231V|SIGLEC6_uc010epa.1_Missense_Mutation_p.G267V	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	278	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGGGGTTGCCGTCAGCATC	0.622													A	52033157	C	A	52033157	3	1	272	1	0	0	0	0	1	0	0	0	14312	739	26	5	544	5	SIGLEC6	19	52033157	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	303557	52033157	7095826	1946	137057											
SIGLEC5	8778	broad.mit.edu	37	chr19	52131128	52131128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttgcaggaagcccagcGggtgctgagcgcggcaggtg	17	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:52131128G>A	uc002pxe.2	-	5	1095	c.956C>T	c.(955-957)CCG>CTG	p.P319L		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	319	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAAGCCCAGCGGGTGCTGAGC	0.562													A	52131128	G	A	52131128	3	1	272	1	0	0	0	0	1	0	0	0	14311	1116	39	1	719	1	SIGLEC5	19	52131128	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	97971	52131128	6997855	1947	137058											
PPP2R1A	5518	broad.mit.edu	37	chr19	52723484	52723484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttaactccttgtgcatgGcctggcttgtggatcatggt	11	9	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:52723484G>A	uc002pyp.2	+	11	1504	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	PPP2R1A_uc010ydk.1_Missense_Mutation_p.A394T|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A270T	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	449	PP2A subunit C binding.|HEAT 12.				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			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTTGTGCATGGCCTGGCTTGT	0.547			Mis		clear cell ovarian carcinoma								A	52723484	G	A	52723484	3	1	272	1	0	0	0	0	1	0	0	0	12382	1203	42	2	1387	2	PPP2R1A	19	52723484	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	592356	52723484	6405499	1948	137059											
ZNF677	342926	broad.mit.edu	37	chr19	53747065	53747065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttctccaacatcacgtccCtgtacaaggccctctgggca	8	15	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:53747065C>A	uc002qbf.1	-	4	286	c.101G>T	c.(100-102)AGG>ATG	p.R34M	ZNF677_uc002qbg.1_Missense_Mutation_p.R34M|ZNF677_uc002qbh.2_RNA	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		CATCACGTCCCTGTACAAGGC	0.473													A	53747065	C	A	53747065	3	1	272	1	0	0	0	0	1	0	0	0	18081	681	24	5	1661	5	ZNF677	19	53747065	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1023581	53747065	5381918	1949	137060											
LENG1	79165	broad.mit.edu	37	chr19	54660654	54660654	+	Frame_Shift_Del	DEL	G	G	-													catctggggctgggccgggcGgggggccccctcgccctggg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54660653_54660653CG>C	uc002qdm.3	-	2	436	c.423_423CG>G	c.(421-423)ccgfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	141										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCC	0.637													-	54660654	G	-	54660654	7	5	272	1	0	1	0	1	0	0	0	0	8723	1116	39	0	380	0	LENG1	19	54660654	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	913589	54660654	4468329	1950	137061											
LILRB3	11025	broad.mit.edu	37	chr19	54746593	54746593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagggctgtgagggcgGgcgtcatggcgtctccttcc	17	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54746593G>A	uc010erh.1	-	1	132	c.8C>T	c.(7-9)CCC>CTC	p.P3L	LILRA6_uc002qew.1_Intron|LILRB3_uc002qeh.1_Missense_Mutation_p.P3L|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.P3L|LILRA6_uc002qek.1_Missense_Mutation_p.P3L|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.P3L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.P3L|LILRB3_uc002qep.1_Missense_Mutation_p.P3L|LILRB3_uc002qeq.1_Missense_Mutation_p.P3L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.P3L|LILRA6_uc010yep.1_Missense_Mutation_p.P3L|LILRA6_uc010yeq.1_Missense_Mutation_p.P3L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.P3L|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	3					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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)		TGTGAGGGCGGGCGTCATGGC	0.642													A	54746593	G	A	54746593	3	1	272	1	0	0	0	0	1	0	0	0	8792	1232	43	4		4	LILRB3	19	54746593	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	85939	54746593	4382390	1951	137062											
LENG8	114823	broad.mit.edu	37	chr19	54965617	54965617	+	Frame_Shift_Del	DEL	C	C	-													ttccttctgcagcccccagtCcccggcatggatgagagcat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54965616_54965616TC>T	uc002qfv.1	+	4	467	c.323_323TC>T	c.(322-324)gtcfs	p.V108fs	LENG8_uc002qfw.2_Frame_Shift_Del_p.V145fs			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	108							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)		CAGCCCCCAGTCCCCGGCATG	0.672													-	54965617	C	-	54965617	7	5	272	1	0	1	0	1	0	0	0	0	8724	842	30	0	453	0	LENG8	19	54965617	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	219024	54965617	4163366	1952	137063											
LENG8	114823	broad.mit.edu	37	chr19	54967959	54967959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctcgagcccctggtGctgcagatgagcagcctgga	14	14	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54967959G>A	uc002qfv.1	+	10	1623	c.1479G>A	c.(1477-1479)GTG>GTA	p.V493V	LENG8_uc002qfw.2_Silent_p.V530V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	493							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCCCCTGGTGCTGCAGATGA	0.672													A	54967959	G	A	54967959	2	1	272	1	0	0	0	0	0	0	0	1	8724	1306	46	2		2	LENG8	19	54967959	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2342	54967959	4161024	1953	137064											
RDH13	112724	broad.mit.edu	37	chr19	55568152	55568152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcacacttctccatgtctCggcaggccaggatgatgttg	10	13	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:55568152C>T	uc002qio.3	-	3	394	c.209G>A	c.(208-210)CGA>CAA	p.R70Q	RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_RNA|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	70							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CTCCATGTCTCGGCAGGCcag	0.328													T	55568152	C	T	55568152	3	4	272	1	0	0	0	0	1	0	0	0	13192	884	31	1	806	1	RDH13	19	55568152	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	600193	55568152	3560831	1954	137065											
EPS8L1	54869	broad.mit.edu	37	chr19	55597479	55597479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcgggacccagcggggcaGgagggatatgtgccctacaa	16	10	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:55597479G>T	uc002qis.3	+	16	1673	c.1569G>T	c.(1567-1569)CAG>CAT	p.Q523H	EPS8L1_uc010ess.1_Missense_Mutation_p.Q537H|EPS8L1_uc010yfr.1_Missense_Mutation_p.Q459H|EPS8L1_uc002qiu.2_Missense_Mutation_p.Q396H|EPS8L1_uc002qiv.2_Missense_Mutation_p.Q201H|EPS8L1_uc002qiw.2_Missense_Mutation_p.Q302H	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	523	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCGGGGCAGGAGGGATATG	0.627													T	55597479	G	T	55597479	3	4	272	1	0	0	0	0	1	0	0	0	5195	991	35	5	1679	5	EPS8L1	19	55597479	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	29327	55597479	3531504	1955	137066											
U2AF2	11338	broad.mit.edu	37	chr19	56180456	56180456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaaacacaggccattgCggggctgaacggcatgcagc	12	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:56180456C>T	uc002qlu.2	+	10	2008	c.953C>T	c.(952-954)GCG>GTG	p.A318V	U2AF2_uc002qlt.2_Missense_Mutation_p.A318V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	318	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			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGGCCATTGCGGGGCTGAAC	0.667													T	56180456	C	T	56180456	3	4	272	1	0	0	0	0	1	0	0	0	16820	768	27	1	991	1	U2AF2	19	56180456	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	582977	56180456	2948527	1956	137067											
NLRP13	126204	broad.mit.edu	37	chr19	56443533	56443533	+	Frame_Shift_Del	DEL	G	G	-													gatacgcgggaagtgcccctGgggggccgaccagaagtcca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:56443532_56443532TG>T	uc010ygg.2	-	0	171	c.146_146CA>A	c.(145-147)cagfs	p.Q49fs		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	49	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)		GAAGTGCCCCTGGGGGGCCGA	0.557													-	56443533	G	-	56443533	7	5	272	1	0	1	0	1	0	0	0	0	10475	1357	47	0	3028	0	NLRP13	19	56443533	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	263077	56443533	2685450	1957	137068											
ZIM2	23619	broad.mit.edu	37	chr19	57286562	57286562	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaaggcttcagcacactGtttacattcatagggtttct	8	8	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57286562G>A	uc002qnr.2	-	11	1460	c.1078C>T	c.(1078-1080)CAG>TAG	p.Q360*	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Nonsense_Mutation_p.Q156*|ZIM2_uc010ygr.1_Nonsense_Mutation_p.Q156*|ZIM2_uc002qnq.2_Nonsense_Mutation_p.Q360*|ZIM2_uc010etp.2_Nonsense_Mutation_p.Q360*|ZIM2_uc010ygs.1_Nonsense_Mutation_p.Q360*	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	360	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCAGCACACTGTTTACATTCA	0.453													A	57286562	G	A	57286562	4	1	272	1	0	0	0	0	0	1	0	0	17681	1386	48	4	509	4	ZIM2	19	57286562	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	843029	57286562	1842421	1958	137069											
PEG3	5178	broad.mit.edu	37	chr19	57326969	57326969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaattacagaggtctcAttgctcctatgctcaatgta	9	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57326969A>G	uc002qnu.2	-	7	3192	c.2841T>C	c.(2839-2841)AAT>AAC	p.N947N	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.N918N|PEG3_uc002qnv.2_Silent_p.N947N|PEG3_uc002qnw.2_Silent_p.N823N|PEG3_uc002qnx.2_Silent_p.N821N|PEG3_uc010etr.2_Silent_p.N947N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	947					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGAGGTCTCATTGCTCCTAT	0.453													G	57326969	A	G	57326969	2	3	272	1	0	0	0	0	0	0	0	1	11720	214	8	3		3	PEG3	19	57326969	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	40407	57326969	1802014	1959	137070											
ZNF543	125919	broad.mit.edu	37	chr19	57839442	57839442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctataaatgtgaggaatgCgggaaagtgtttaaaaagaa	11	3	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57839442C>T	uc002qoi.1	+	4	957	c.612C>T	c.(610-612)TGC>TGT	p.C204C		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	204	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		GTGAGGAATGCGGGAAAGTGT	0.413													T	57839442	C	T	57839442	2	4	272	1	0	0	0	0	0	0	0	1	17973	776	27	1		1	ZNF543	19	57839442	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	512473	57839442	1289541	1960	137071											
ZNF772	400720	broad.mit.edu	37	chr19	57985774	57985774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtatctcttcatcctccAttccatgccaacaacctgaa	4	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57985774A>G	uc002qot.2	-	5	599	c.338T>C	c.(337-339)ATG>ACG	p.M113T	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.M72T|ZNF772_uc010ygz.1_Missense_Mutation_p.M1T|ZNF772_uc010yha.1_Missense_Mutation_p.M59T|ZNF772_uc002qou.2_Missense_Mutation_p.M1T	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		TTCATCCTCCATTCCATGCCA	0.453													G	57985774	A	G	57985774	3	3	272	1	0	0	0	0	1	0	0	0	18142	217	8	3	1135	3	ZNF772	19	57985774	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	146332	57985774	1143209	1961	137072											
ZIK1	284307	broad.mit.edu	37	chr19	58102493	58102493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggccttatgagtgtggCcagtgtggaaagtcctttag	14	7	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58102493C>T	uc002qpg.2	+	4	1411	c.1314C>T	c.(1312-1314)GGC>GGT	p.G438G	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.G383G|ZIK1_uc002qpi.2_Silent_p.G425G|ZIK1_uc002qpj.2_Silent_p.G335G	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	438	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		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)		ATGAGTGTGGCCAGTGTGGAA	0.458													T	58102493	C	T	58102493	2	4	272	1	0	0	0	0	0	0	0	1	17680	726	26	2		2	ZIK1	19	58102493	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	116719	58102493	1026490	1962	137073											
ZNF256	10172	broad.mit.edu	37	chr19	58453724	58453725	+	Frame_Shift_Ins	INS	-	-	C													gctcaaaaacatgtctctgcINSccccattgcttctgaagtgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58453723_58453724G>GC	uc002qqu.3	-	2	687_688	c.452_453C>GC	c.(451-453)ggcfs	p.G151fs	ZNF256_uc010euj.3_5'UTR	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	151					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		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;0.0155)		ACATGTCTCTGCCCCCATTGCT	0.45													C	58453725	-	C	58453724	7	5	272	1	0	1	1	0	0	0	0	0	17796	739	26	0	1435	0	ZNF256	19	58453724	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	351231	58453724	675259	1963	137074											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549499	58549499	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagatgcggacctgggtgCagtcacagggcccccgaagc	15	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58549499C>T	uc002qrc.1	+	3	542	c.295C>T	c.(295-297)CAG>TAG	p.Q99*	ZSCAN1_uc002qra.1_Nonsense_Mutation_p.Q99*|ZSCAN1_uc002qrb.1_Nonsense_Mutation_p.Q99*	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	99	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GACCTGGGTGCAGTCACAGGG	0.687													T	58549499	C	T	58549499	4	4	272	1	0	0	0	0	0	1	0	0	18223	711	25	2	297	2	ZSCAN1	19	58549499	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	95775	58549499	579484	1964	137075											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601411	58601411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggcatcagccactggCggcacagctcatgcagccgg	12	16	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58601411C>T	uc002qri.2	-	2	533	c.224G>A	c.(223-225)CGC>CAC	p.R75H	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R75H|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R75H|ZSCAN18_uc010yht.1_Missense_Mutation_p.R131H|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R75H|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R75H	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		CAGCCACTGGCGGCACAGCTC	0.662													T	58601411	C	T	58601411	3	4	272	1	0	0	0	0	1	0	0	0	18227	768	27	1	1332	1	ZSCAN18	19	58601411	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	51912	58601411	527572	1965	137076											
ZNF497	162968	broad.mit.edu	37	chr19	58868090	58868090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctttccgcactcggcGcaggggaagggcttctcgct	13	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58868090G>A	uc002qsh.1	-	3	1101	c.912C>T	c.(910-912)TGC>TGT	p.C304C	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.C304C|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	304	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		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)		CGCACTCGGCGCAGGGGAAGG	0.716													A	58868090	G	A	58868090	2	1	272	1	0	0	0	0	0	0	0	1	17943	1079	38	1		1	ZNF497	19	58868090	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	266679	58868090	260893	1966	137077											
SNPH	9751	broad.mit.edu	37	chr20	1285981	1285981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacactgagccggacggaCgcgctggaagccagcagcct	14	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:1285981C>T	uc002wes.2	+	6	1004	c.768C>T	c.(766-768)GAC>GAT	p.D256D	SNPH_uc002wet.2_Silent_p.D300D	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	256					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GCCGGACGGACGCGCTGGAAG	0.682													T	1285981	C	T	1285981	2	4	272	1	0	0	0	0	0	0	0	1	14850	535	19	1		1	SNPH	20	1285981	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		1285981	61739539	1967	137078											
NSFL1C	55968	broad.mit.edu	37	chr20	1426391	1426391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggtaggctctgattcGtcgattaagatggaagagct	13	5	1	3	rs141160175		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:1426391G>A	uc002wfc.2	-	8	1818	c.870C>T	c.(868-870)GAC>GAT	p.D290D	NSFL1C_uc002wfd.2_Silent_p.D179D|NSFL1C_uc002wfe.2_Silent_p.D259D|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.D56D	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	290						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						GCTCTGATTCGTCGATTAAGA	0.537													A	1426391	G	A	1426391	2	1	272	1	0	0	0	0	0	0	0	1	10672	1136	40	1		1	NSFL1C	20	1426391	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	140410	1426391	61599129	1968	137079											
STK35	140901	broad.mit.edu	37	chr20	2097724	2097724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacactacacagccaaggcGgacatctttgccctgggcat	11	13	1	0	rs147812244	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:2097724G>A	uc010gak.2	+	3	1305	c.1305G>A	c.(1303-1305)GCG>GCA	p.A435A	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Silent_p.A302A	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	435	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CAGCCAAGGCGGACATCTTTG	0.478													A	2097724	G	A	2097724	2	1	272	1	0	0	0	0	0	0	0	1	15300	1103	39	1		1	STK35	20	2097724	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	671333	2097724	60927796	1969	137080											
TMC2	117532	broad.mit.edu	37	chr20	2582779	2582779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaatagtggatgaacaAgagagtaacaaagaagaaaa	10	3	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:2582779A>C	uc002wgf.1	+	11	1260	c.1245A>C	c.(1243-1245)CAA>CAC	p.Q415H	TMC2_uc002wgg.1_Missense_Mutation_p.Q399H|TMC2_uc010zpw.1_Missense_Mutation_p.Q247H|TMC2_uc010zpx.1_Missense_Mutation_p.Q246H	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	415	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						TGGATGAACAAGAGAGTAACA	0.408													C	2582779	A	C	2582779	3	2	272	1	0	0	0	0	1	0	0	0	15982	69	3	5	1287	5	TMC2	20	2582779	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	485055	2582779	60442741	1970	137081											
SIGLEC1	6614	broad.mit.edu	37	chr20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-													ctgaagatgtggaggctgatGgggggtgagaccaaagagcc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:3684490_3684490TG>T	uc002wja.3	-	3	955	c.955_955CA>A	c.(955-957)atcfs	p.I319fs	SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.I319fs|SIGLEC1_uc002wjc.3_Frame_Shift_Del_p.I230fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	319	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)|p.P318P(1)		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						TGGAGGCTGATGGGGGGTGAG	0.617													-	3684491	G	-	3684491	7	5	272	1	0	1	0	1	0	0	0	0	14305	1335	47	0	4247	0	SIGLEC1	20	3684491	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1101712	3684491	59341029	1971	137082											
ADRA1D	146	broad.mit.edu	37	chr20	4229076	4229076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgtgcagcacagcaCgtccacggcggcccatacgt	14	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:4229076C>T	uc002wkr.2	-	1	584	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	177	Helical; Name=3; (By similarity).				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				0					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)	CAGCACAGCACGTCCACGGCG	0.657													T	4229076	C	T	4229076	3	4	272	1	0	0	0	0	1	0	0	0	336	536	19	1	1197	1	ADRA1D	20	4229076	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	544585	4229076	58796444	1972	137083											
SLC23A2	9962	broad.mit.edu	37	chr20	4854641	4854641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttgcctggcatctgtgCgagcatagaagccatacttt	10	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:4854641C>T	uc002wlg.1	-	11	1418	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SLC23A2_uc010zqr.1_Missense_Mutation_p.R233H|SLC23A2_uc002wlh.1_Missense_Mutation_p.R348H|SLC23A2_uc002wli.2_Missense_Mutation_p.R347H	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	348					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			ovary(2)	2						GGCATCTGTGCGAGCATAGAA	0.542													T	4854641	C	T	4854641	3	4	272	1	0	0	0	0	1	0	0	0	14463	768	27	1	937	1	SLC23A2	20	4854641	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	625565	4854641	58170879	1973	137084											
LRRN4	164312	broad.mit.edu	37	chr20	6022019	6022019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagatgacccccaccacCgactggttccccgcccagcc	9	20	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:6022019C>T	uc002wmo.2	-	5	2096	c.1872G>A	c.(1870-1872)TCG>TCA	p.S624S		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	624	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)	3						CCCCCACCACCGACTGGTTCC	0.701													T	6022019	C	T	6022019	2	4	272	1	0	0	0	0	0	0	0	1	9037	639	23	1		1	LRRN4	20	6022019	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1167378	6022019	57003501	1974	137085											
PLCB1	23236	broad.mit.edu	37	chr20	8720006	8720006	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcaagccattcggccAggtatgggtagtgtgctgag	15	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:8720006A>T	uc002wnb.2	+	21	2310	c.2307A>T	c.(2305-2307)CCA>CCT	p.P769P	PLCB1_uc010zrb.1_Silent_p.P668P|PLCB1_uc002wna.2_Silent_p.P769P|PLCB1_uc002wnc.1_Silent_p.P668P|PLCB1_uc002wnd.1_Silent_p.P346P	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	769					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CCATTCGGCCAGGTATGGGTA	0.393													T	8720006	A	T	8720006	2	4	272	1	0	0	0	0	0	0	0	1	12027	202	7	5		5	PLCB1	20	8720006	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2697987	8720006	54305514	1975	137086											
PAK7	57144	broad.mit.edu	37	chr20	9546634	9546634	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcggtggcgatgcatAcgatgccggttgagccttcc	13	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:9546634A>G	uc002wnl.2	-	6	1933	c.1388T>C	c.(1387-1389)GTA>GCA	p.V463A	PAK7_uc002wnk.2_Missense_Mutation_p.V463A|PAK7_uc002wnj.2_Missense_Mutation_p.V463A|PAK7_uc010gby.1_Missense_Mutation_p.V463A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	463	Protein kinase.|ATP (By similarity).						ATP binding|protein binding|protein serine/threonine kinase activity	p.V463L(1)		lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			GGCGATGCATACGATGCCGGT	0.527													G	9546634	A	G	9546634	3	3	272	1	0	0	0	0	1	0	0	0	11405	391	14	3	795	3	PAK7	20	9546634	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	826628	9546634	53478886	1976	137087											
BTBD3	22903	broad.mit.edu	37	chr20	11898962	11898964	+	In_Frame_Del	DEL	CTT	CTT	-													aagaacatgaaatgtctcacCttcttcttgatgcttccaga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:11898961_11898963CCTT>C	uc002wnz.3	+	0	397_399	c.38_40CCTT>C	c.(37-42)accttc>aCtc	p.F15del	BTBD3_uc002wny.3_Intron|BTBD3_uc002woa.3_Intron|BTBD3_uc010zrf.2_Intron|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	15										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAATGTCTCACCTTCTTCTTGAT	0.419													-	11898964	CTT	-	11898962	7	5	272	1	0	1	0	1	0	0	0	0	1544	668	24	0	41	0	BTBD3	20	11898962	In_Frame_Del	DEL	CTT	TCGA-HU-A4GQ-01A-11D-A25D-08	2352328	11898962	51126558	1977	137088											
TASP1	55617	broad.mit.edu	37	chr20	13514787	13514787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgcctgagtcatttTcctgcagagcaaaagtggca	10	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:13514787T>C	uc002woi.2	-	9	794	c.677A>G	c.(676-678)GAA>GGA	p.E226G	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.E203G|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	226					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						TGAGTCATTTTCCTGCAGAGC	0.473													C	13514787	T	C	13514787	3	2	272	1	0	0	0	0	1	0	0	0	15586	1797	62	3	609	3	TASP1	20	13514787	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1615825	13514787	49510733	1978	137089											
MACROD2	140733	broad.mit.edu	37	chr20	15480470	15480470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcaacaccattaaggaatGgcttgccaagaatcaccatg	7	12	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:15480470G>T	uc002wou.2	+	8	887	c.623G>T	c.(622-624)TGG>TTG	p.W208L	MACROD2_uc002wot.2_Missense_Mutation_p.W208L|MACROD2_uc002woz.2_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	208	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATTAAGGAATGGCTTGCCAAG	0.433													T	15480470	G	T	15480470	3	4	272	1	0	0	0	0	1	0	0	0	9146	1357	47	5	653	5	MACROD2	20	15480470	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1965683	15480470	47545050	1979	137090											
MACROD2	140733	broad.mit.edu	37	chr20	15948229	15948229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaaatattacaaaaggCggtgaagtgacagatcattc	10	5	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:15948229C>T	uc002wou.2	+	13	1203	c.939C>T	c.(937-939)GGC>GGT	p.G313G	MACROD2_uc002wot.2_Silent_p.G313G|MACROD2_uc002woz.2_Silent_p.G78G|MACROD2_uc002wpb.2_Silent_p.G78G	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	313	Glu-rich.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTACAAAAGGCGGTGAAGTGA	0.378													T	15948229	C	T	15948229	2	4	272	1	0	0	0	0	0	0	0	1	9146	755	27	1		1	MACROD2	20	15948229	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	467759	15948229	47077291	1980	137091											
KIF16B	55614	broad.mit.edu	37	chr20	16360306	16360306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccactgtacctccccacGccgcaggagctggatcatct	8	18	2	0	rs142424331		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:16360306G>A	uc002wpg.1	-	19	2499	c.2341C>T	c.(2341-2343)CGT>TGT	p.R781C	KIF16B_uc002wpe.1_Missense_Mutation_p.R163C|KIF16B_uc002wpf.1_Missense_Mutation_p.R163C|KIF16B_uc010gch.1_Missense_Mutation_p.R781C|KIF16B_uc010gci.1_Missense_Mutation_p.R781C|KIF16B_uc010gcj.1_Missense_Mutation_p.R792C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	781	Glu-rich.|Potential.				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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ACCTCCCCACGCCGCAGGAGC	0.592													A	16360306	G	A	16360306	3	1	272	1	0	0	0	0	1	0	0	0	8278	1087	38	1	1644	1	KIF16B	20	16360306	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	412077	16360306	46665214	1981	137092											
OTOR	56914	broad.mit.edu	37	chr20	16729075	16729075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattgttacttttcctccCgggtcttgtggctgtatgtg	10	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:16729075C>T	uc002wpj.2	+	1	73	c.29C>T	c.(28-30)CCG>CTG	p.P10L	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	10					sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						CTTTTCCTCCCGGGTCTTGTG	0.433													T	16729075	C	T	16729075	3	4	272	1	0	0	0	0	1	0	0	0	11308	652	23	1	31	1	OTOR	20	16729075	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	368769	16729075	46296445	1982	137093											
CSRP2BP	57325	broad.mit.edu	37	chr20	18139825	18139825	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaatttggagagccaGgatggtggaaacttgttcat	13	6	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:18139825G>T	uc002wqj.2	+	5	1220	c.598G>T	c.(598-600)GGA>TGA	p.G200*	CSRP2BP_uc002wqk.2_Nonsense_Mutation_p.G72*|CSRP2BP_uc010zru.1_Nonsense_Mutation_p.G72*	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	200					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						TGGAGAGCCAGGATGGTGGAA	0.488													T	18139825	G	T	18139825	4	4	272	1	0	0	0	0	0	1	0	0	3968	1001	35	5	612	5	CSRP2BP	20	18139825	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1410750	18139825	44885695	1983	137094											
SEC23B	10483	broad.mit.edu	37	chr20	18507120	18507120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattaaagattcctattcGttcttggcatgatattgaga	8	5	1	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:18507120G>A	uc002wqz.1	+	8	1381	c.938G>A	c.(937-939)CGT>CAT	p.R313H	SEC23B_uc002wra.1_Missense_Mutation_p.R313H|SEC23B_uc002wrb.1_Missense_Mutation_p.R313H|SEC23B_uc010zsb.1_Missense_Mutation_p.R295H|SEC23B_uc002wrc.1_Missense_Mutation_p.R313H	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	313			R -> H.		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			ovary(1)	1						ATTCCTATTCGTTCTTGGCAT	0.458													A	18507120	G	A	18507120	3	1	272	1	0	0	0	0	1	0	0	0	13992	1145	40	1	964	1	SEC23B	20	18507120	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	367295	18507120	44518400	1984	137095											
NKX2-2	4821	broad.mit.edu	37	chr20	21492970	21492970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagctcgtaggtctgcGccttggagaaaagcactcgc	12	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:21492970G>A	uc002wsi.2	-	2	770	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	138	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						GTAGGTCTGCGCCTTGGAGAA	0.697													A	21492970	G	A	21492970	3	1	272	1	0	0	0	0	1	0	0	0	10450	1087	38	1	412	1	NKX2-2	20	21492970	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2985850	21492970	41532550	1985	137096											
PAX1	5075	broad.mit.edu	37	chr20	21687285	21687285	+	Frame_Shift_Del	DEL	G	G	-													ccattctgcccggggccatcGgggggagcaagccccgcgtc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:21687284_21687284CG>C	uc002wsj.2	+	1	549	c.495_495CG>C	c.(493-495)atcfs	p.I165fs	PAX1_uc010zsl.2_Frame_Shift_Del_p.I165fs|PAX1_uc010zsm.2_Frame_Shift_Del_p.I141fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	165	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						CCGGGGCCATCGGGGGGAGCA	0.647													-	21687285	G	-	21687285	7	5	272	1	0	1	0	1	0	0	0	0	11478	1116	39	0	502	0	PAX1	20	21687285	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	194315	21687285	41338235	1986	137097											
PAX1	5075	broad.mit.edu	37	chr20	21687610	21687611	+	Frame_Shift_Ins	INS	-	-	T													ggcagccaccccggggtcccINSgggcacggcgggccacgtca							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:21687609_21687610C>CT	uc002wsj.2	+	1	874_875	c.820_821C>CT	c.(820-822)ccgfs	p.P274fs	PAX1_uc010zsl.2_Frame_Shift_Ins_p.P274fs|PAX1_uc010zsm.2_Frame_Shift_Ins_p.P250fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	274					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.P274Q(1)|p.P180Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCCGGGGTCCCGGGCACGGCG	0.673													T	21687611	-	T	21687610	7	5	272	1	0	1	1	0	0	0	0	0	11478	652	23	0	827	0	PAX1	20	21687610	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	325	21687610	41337910	1987	137098											
GZF1	64412	broad.mit.edu	37	chr20	23350290	23350290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgccctccagcgccaccGccgcatccacacaggggaga	10	19	0	1	rs144872945	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:23350290G>A	uc010gdb.2	+	6	1871	c.1697G>A	c.(1696-1698)CGC>CAC	p.R566H	GZF1_uc002wsy.2_Missense_Mutation_p.R566H|GZF1_uc010zsq.1_Missense_Mutation_p.R90H|GZF1_uc010zsr.1_Missense_Mutation_p.R75H|GZF1_uc002wsz.2_Missense_Mutation_p.R566H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	566	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGCGCCACCGCCGCATCCAC	0.632													A	23350290	G	A	23350290	3	1	272	1	0	0	0	0	1	0	0	0	6914	1087	38	1	1711	1	GZF1	20	23350290	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1662680	23350290	39675230	1988	137099											
TM9SF4	9777	broad.mit.edu	37	chr20	30749115	30749115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaatttcctagtctccGggggctctgcattctacgtc	11	11	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30749115G>A	uc002wxj.2	+	17	1961	c.1726G>A	c.(1726-1728)GGG>AGG	p.G576R	TM9SF4_uc010zts.1_Missense_Mutation_p.G483R|TM9SF4_uc002wxk.2_Missense_Mutation_p.G559R|TM9SF4_uc010gdz.2_Missense_Mutation_p.G455R	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	576	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTAGTCTCCGGGGGCTCTGC	0.502													A	30749115	G	A	30749115	3	1	272	1	0	0	0	0	1	0	0	0	15977	1116	39	1	1792	1	TM9SF4	20	30749115	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	7398825	30749115	32276405	1989	137100											
PLAGL2	5326	broad.mit.edu	37	chr20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-													tgctttgcatcttgaatccaGggggggacgctggtgaaaaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						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)			TCTTGAATCCAGGGGGGGACG	0.557													-	30789952	G	-	30789952	7	5	272	1	0	1	0	1	0	0	0	0	12020	987	35	0	1468	0	PLAGL2	20	30789952	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	40837	30789952	32235568	1990	137101											
KIF3B	9371	broad.mit.edu	37	chr20	30915466	30915466	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggcccgatatagggTgagaagatccttcttgggtt	13	8	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30915466T>C	uc002wxq.2	+	7	2135	c.1968_splice	c.e7+2	p.R656_splice	KIF3B_uc010ztw.1_Splice_Site_p.R594_splice	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B						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			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGATATAGGGTGAGAAGATCC	0.468													C	30915466	T	C	30915466	5	2	272	1	0	0	0	0	0	0	1	0	8301	1710	59	3	1992	3	KIF3B	20	30915466	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	125514	30915466	32110054	1991	137102											
ASXL1	171023	broad.mit.edu	37	chr20	30956896	30956896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggttgttttataaactGcctggccgaatcagcctttt	11	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30956896G>A	uc002wxs.2	+	3	648	c.222G>A	c.(220-222)CTG>CTA	p.L74L	ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_Silent_p.L16L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	74					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TTTATAAACTGCCTGGCCGAA	0.358			F|N|Mis		MDS|CMML								A	30956896	G	A	30956896	2	1	272	1	0	0	0	0	0	0	0	1	1066	1306	46	2		2	ASXL1	20	30956896	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	41430	30956896	32068624	1992	137103											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31975140	31975140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactcacacaaaggcagaCgtggcactggcgcttgtctg	13	11	2	2	rs143485633	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:31975140C>T	uc010gek.2	-	6	868	c.744G>A	c.(742-744)ACG>ACA	p.T248T	CDK5RAP1_uc002wyy.2_Silent_p.T158T|CDK5RAP1_uc002wyz.2_Silent_p.T248T|CDK5RAP1_uc002wza.2_Silent_p.T248T|CDK5RAP1_uc010gel.2_Silent_p.T157T|CDK5RAP1_uc010gem.2_Silent_p.T248T|CDK5RAP1_uc002wzc.1_Silent_p.T248T|CDK5RAP1_uc010gen.2_Silent_p.T248T	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	248					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			ovary(2)|skin(2)|lung(1)	5						CAAAGGCAGACGTGGCACTGG	0.448													T	31975140	C	T	31975140	2	4	272	1	0	0	0	0	0	0	0	1	3145	523	19	1		1	CDK5RAP1	20	31975140	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1018244	31975140	31050380	1993	137104											
SNTA1	6640	broad.mit.edu	37	chr20	32026768	32026768	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccacaaaaagggcctctgtCtggtcagctgccaatccctt	8	15	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32026768C>T	uc002wzd.1	-	2	647	c.375G>A	c.(373-375)CAG>CAA	p.Q125Q	SNTA1_uc010zuf.1_Silent_p.Q125Q	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	125	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						GGGCCTCTGTCTGGTCAGCTG	0.537													T	32026768	C	T	32026768	2	4	272	1	0	0	0	0	0	0	0	1	14871	912	32	4		4	SNTA1	20	32026768	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	51628	32026768	30998752	1994	137105											
ZNF341	84905	broad.mit.edu	37	chr20	32378977	32378977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcccccaaaaggacaaggAcctgcaaacccggcggcccc	11	18	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32378977A>G	uc002wzy.2	+	15	2239	c.2219A>G	c.(2218-2220)GAC>GGC	p.D740G	ZNF341_uc002wzx.2_Missense_Mutation_p.D733G|ZNF341_uc010geq.2_Missense_Mutation_p.D650G|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Missense_Mutation_p.D167G	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAGGACAAGGACCTGCAAACC	0.662													G	32378977	A	G	32378977	3	3	272	1	0	0	0	0	1	0	0	0	17854	275	10	3	2256	3	ZNF341	20	32378977	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	352209	32378977	30646543	1995	137106											
AHCY	191	broad.mit.edu	37	chr20	32880243	32880243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcatgttgaggggcccGtccttgaagtacagggtctg	14	8	2	3	rs141935523		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32880243G>A	uc002xai.2	-	4	505	c.366C>T	c.(364-366)GAC>GAT	p.D122D	AHCY_uc002xaj.2_Silent_p.D94D	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	122					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						TGAGGGGCCCGTCCTTGAAGT	0.617													A	32880243	G	A	32880243	2	1	272	1	0	0	0	0	0	0	0	1	409	1136	40	1		1	AHCY	20	32880243	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	501266	32880243	30145277	1996	137107											
AHCY	191	broad.mit.edu	37	chr20	32883218	32883218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcagcacccagggtgaCgagggtctcaatgaggacgg	14	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32883218C>T	uc002xai.2	-	2	341	c.202G>A	c.(202-204)GTC>ATC	p.V68I	AHCY_uc002xaj.2_Missense_Mutation_p.V40I|AHCY_uc010get.2_Missense_Mutation_p.V68I	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	68					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						CCCAGGGTGACGAGGGTCTCA	0.652													T	32883218	C	T	32883218	3	4	272	1	0	0	0	0	1	0	0	0	409	536	19	1	1132	1	AHCY	20	32883218	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2975	32883218	30142302	1997	137108											
ITCH	83737	broad.mit.edu	37	chr20	32996530	32996530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgtagaggtcacagtagaTggacagtcaaagaagacaga	12	6	2	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32996530T>C	uc010geu.1	+	4	336	c.144T>C	c.(142-144)GAT>GAC	p.D48D	ITCH_uc002xak.2_Silent_p.D48D|ITCH_uc010zuj.1_Intron	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	48	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TCACAGTAGATGGACAGTCAA	0.368													C	32996530	T	C	32996530	2	2	272	1	0	0	0	0	0	0	0	1	7868	1461	51	3		3	ITCH	20	32996530	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	113312	32996530	30028990	1998	137109											
ACSS2	55902	broad.mit.edu	37	chr20	33514064	33514064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttcagccccaagctcaCcgaggagctcaagaagcaga	9	15	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33514064C>T	uc002xbd.2	+	16	2004	c.1883C>T	c.(1882-1884)ACC>ATC	p.T628I	ACSS2_uc002xbc.2_Missense_Mutation_p.T533I|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.T641I|ACSS2_uc002xbe.2_Missense_Mutation_p.T336I|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	628					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCAAGCTCACCGAGGAGCTC	0.577													T	33514064	C	T	33514064	3	4	272	1	0	0	0	0	1	0	0	0	189	507	18	4	1988	4	ACSS2	20	33514064	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	517534	33514064	29511456	1999	137110											
MYH7B	57644	broad.mit.edu	37	chr20	33568503	33568503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgccccatatatatgcGgtggcggacaacgcctacaa	9	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33568503G>A	uc010gfa.1	+	5	586	c.465G>A	c.(463-465)GCG>GCA	p.A155A	MYH7B_uc002xbi.1_Silent_p.A197A			A7E2Y1	MYH7B_HUMAN	RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14;	155	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ATATATATGCGGTGGCGGACA	0.612													A	33568503	G	A	33568503	2	1	272	1	0	0	0	0	0	0	0	1	10040	1103	39	1		1	MYH7B	20	33568503	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	54439	33568503	29457017	2000	137111											
MYH7B	57644	broad.mit.edu	37	chr20	33582133	33582133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcggccgaggccaagCgccaggaactggaggagacg	18	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33582133C>T	uc002xbi.1	+	25	2847	c.2755C>T	c.(2755-2757)CGC>TGC	p.R919C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	877	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGAGGCCAAGCGCCAGGAACT	0.701													T	33582133	C	T	33582133	3	4	272	1	0	0	0	0	1	0	0	0	10040	768	27	1	2853	1	MYH7B	20	33582133	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	13630	33582133	29443387	2001	137112											
MYH7B	57644	broad.mit.edu	37	chr20	33588235	33588235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgggccatgccaccCgtcaggccacagaggcccag	13	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33588235C>T	uc002xbi.1	+	37	5139	c.5047C>T	c.(5047-5049)CGT>TGT	p.R1683C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1641	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATGCCACCCGTCAGGCCAC	0.672													T	33588235	C	T	33588235	3	4	272	1	0	0	0	0	1	0	0	0	10040	652	23	1	5193	1	MYH7B	20	33588235	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6102	33588235	29437285	2002	137113											
TRPC4AP	26133	broad.mit.edu	37	chr20	33592318	33592318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaagaggaaggacatctgCgtgggcacctgggatatgta	16	7	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33592318C>T	uc002xbk.2	-	17	2026	c.1992G>A	c.(1990-1992)ACG>ACA	p.T664T	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.T255T|TRPC4AP_uc002xbl.2_Silent_p.T656T|TRPC4AP_uc010zur.1_Silent_p.T625T	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	664					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGGACATCTGCGTGGGCACCT	0.612													T	33592318	C	T	33592318	2	4	272	1	0	0	0	0	0	0	0	1	16578	755	27	1		1	TRPC4AP	20	33592318	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4083	33592318	29433202	2003	137114											
MMP24	10893	broad.mit.edu	37	chr20	33862189	33862191	+	In_Frame_Del	DEL	AGG	AGG	-													ctggatgggctgcaaccagaAggaggtggagcggcggaagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33862189_33862191delAGG	uc002xbu.2	+	9	1718_1720	c.1715_1717delAGG	c.(1714-1719)AAGGAG>AAG	p.E573del	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	573	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCAACCAGAAGGAGGTGGAGCG	0.631													-	33862191	AGG	-	33862189	7	5	272	1	0	1	0	1	0	0	0	0	9661	72	3	0	1499	0	MMP24	20	33862189	In_Frame_Del	DEL	AGG	TCGA-HU-A4GQ-01A-11D-A25D-08	269871	33862189	29163331	2004	137115											
CEP250	11190	broad.mit.edu	37	chr20	34092291	34092291	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccaggaccaggatctcCgataccaggaggatgtgcag	13	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:34092291C>T	uc002xcm.2	+	31	6765	c.6094C>T	c.(6094-6096)CGA>TGA	p.R2032*	CEP250_uc010zve.1_Nonsense_Mutation_p.R1400*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	2032	Gln/Glu-rich.|Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGGATCTCCGATACCAGGA	0.592													T	34092291	C	T	34092291	4	4	272	1	0	0	0	0	0	1	0	0	3252	644	23	1	6200	1	CEP250	20	34092291	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	230102	34092291	28933229	2005	137116											
CPNE1	8904	broad.mit.edu	37	chr20	34214296	34214296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctgtgccaatgcctccCgaggggcctgccaagaaaag	13	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:34214296C>T	uc002xdf.2	-	18	1844	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	CPNE1_uc002xdc.2_Missense_Mutation_p.R156Q|CPNE1_uc010zvj.1_Missense_Mutation_p.R499Q|CPNE1_uc002xde.2_Missense_Mutation_p.R470Q|CPNE1_uc002xdg.2_Missense_Mutation_p.R438Q|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdi.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdj.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdk.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdl.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdm.2_Missense_Mutation_p.R494Q	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	494	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAATGCCTCCCGAGGGGCCTG	0.572													T	34214296	C	T	34214296	3	4	272	1	0	0	0	0	1	0	0	0	3811	652	23	1	136	1	CPNE1	20	34214296	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	122005	34214296	28811224	2006	137117											
CPNE1	8904	broad.mit.edu	37	chr20	34218859	34218859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctgcccacactccacAgtgccatcaggtactcattg	7	17	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:34218859A>G	uc002xdf.2	-	13	1322	c.959T>C	c.(958-960)CTG>CCG	p.L320P	CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.L325P|CPNE1_uc002xde.2_Missense_Mutation_p.L296P|CPNE1_uc002xdg.2_Missense_Mutation_p.L320P|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.L320P|CPNE1_uc002xdi.2_Missense_Mutation_p.L320P|CPNE1_uc002xdj.2_Missense_Mutation_p.L320P|CPNE1_uc002xdk.2_Missense_Mutation_p.L320P|CPNE1_uc002xdl.2_Missense_Mutation_p.L320P|CPNE1_uc002xdm.2_Missense_Mutation_p.L320P|CPNE1_uc010gfk.1_3'UTR	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	320	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CACACTCCACAGTGCCATCAG	0.572													G	34218859	A	G	34218859	3	3	272	1	0	0	0	0	1	0	0	0	3811	188	7	3	678	3	CPNE1	20	34218859	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	4563	34218859	28806661	2007	137118											
RALGAPB	57148	broad.mit.edu	37	chr20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-													aagtgctgctgtcagtaccaCccccccacataaccggaggc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(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						TGTCAGTACCACCCCCCCACA	0.443													-	37146233	C	-	37146233	7	5	272	1	0	1	0	1	0	0	0	0	13015	507	18	0	1162	0	RALGAPB	20	37146233	Frame_Shift_Del	DEL	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2927374	37146233	25879287	2008	137119											
PPP1R16B	26051	broad.mit.edu	37	chr20	37529261	37529261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaactcggatgggaacAtgccatatgacctctgcgag	11	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:37529261A>G	uc002xje.2	+	5	694	c.505A>G	c.(505-507)ATG>GTG	p.M169V	PPP1R16B_uc010ggc.2_Missense_Mutation_p.M169V	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	169					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GGATGGGAACATGCCATATGA	0.572													G	37529261	A	G	37529261	3	3	272	1	0	0	0	0	1	0	0	0	12366	217	8	3	519	3	PPP1R16B	20	37529261	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	383028	37529261	25496259	2009	137120											
FAM83D	81610	broad.mit.edu	37	chr20	37580194	37580194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttaagttttacatggacGgatggcaaattaaacagcag	9	6	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:37580194G>A	uc002xjg.2	+	4	920	c.879G>A	c.(877-879)ACG>ACA	p.T293T		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	263					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				TTACATGGACGGATGGCAAAT	0.398													A	37580194	G	A	37580194	2	1	272	1	0	0	0	0	0	0	0	1	5636	1103	39	1		1	FAM83D	20	37580194	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	50933	37580194	25445326	2010	137121											
MAFB	9935	broad.mit.edu	37	chr20	39317196	39317196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggcgtcaggttgagcgCctcggggttcatctgctggt	16	11	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39317196C>T	uc002xji.2	-	1	681	c.295G>A	c.(295-297)GCG>ACG	p.A99T		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	99					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				AGGTTGAGCGCCTCGGGGTTC	0.627			T	IGH@	MM								T	39317196	C	T	39317196	3	4	272	1	0	0	0	0	1	0	0	0	9158	739	26	2	680	2	MAFB	20	39317196	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1737002	39317196	23708324	2011	137122											
PLCG1	5335	broad.mit.edu	37	chr20	39792073	39792073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcatgctcagcttcctccGagaccccttacgagagatcg	9	14	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39792073G>A	uc002xjp.1	+	9	966	c.845G>A	c.(844-846)CGA>CAA	p.R282Q	PLCG1_uc002xjo.1_Missense_Mutation_p.R282Q|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	282					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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				AGCTTCCTCCGAGACCCCTTA	0.557													A	39792073	G	A	39792073	3	1	272	1	0	0	0	0	1	0	0	0	12035	1058	37	1	879	1	PLCG1	20	39792073	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	474877	39792073	23233447	2012	137123											
LPIN3	64900	broad.mit.edu	37	chr20	39983322	39983322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagggagaagatgccccGgaagggtgggcgatggtggt	22	5	0	3	rs148237195	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39983322G>A	uc002xjx.2	+	12	1656	c.1565G>A	c.(1564-1566)CGG>CAG	p.R522Q	LPIN3_uc010ggh.2_Missense_Mutation_p.R523Q|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	522					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				AAGATGCCCCGGAAGGGTGGG	0.617													A	39983322	G	A	39983322	3	1	272	1	0	0	0	0	1	0	0	0	8920	1116	39	1	1607	1	LPIN3	20	39983322	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	191249	39983322	23042198	2013	137124											
EMILIN3	90187	broad.mit.edu	37	chr20	39991679	39991679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagccgctcaccaaacagcCctgggcctttccttcctggg	9	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39991679C>A	uc002xjy.1	-	4	754	c.530G>T	c.(529-531)GGG>GTG	p.G177V		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	177						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				ACCAAACAGCCCTGGGCCTTT	0.597													A	39991679	C	A	39991679	3	1	272	1	0	0	0	0	1	0	0	0	5095	623	22	5	1774	5	EMILIN3	20	39991679	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8357	39991679	23033841	2014	137125											
SFRS6	6431	broad.mit.edu	37	chr20	42088683	42088683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctttcaggattttatgcGacaagcaggtgaagtaacct	10	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:42088683G>A	uc010zwg.1	+	4	562	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	SFRS6_uc002xki.2_Missense_Mutation_p.R2Q|SFRS6_uc002xkk.2_Missense_Mutation_p.R131Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	131	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GATTTTATGCGACAAGCAGGT	0.393													A	42088683	G	A	42088683	3	1	272	1	0	0	0	0	1	0	0	0	14181	1058	37	1	406	1	SFRS6	20	42088683	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2097004	42088683	20936837	2015	137126											
JPH2	57158	broad.mit.edu	37	chr20	42788552	42788552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgttcttccactcgcccAtgtaggtctcggtggtggtg	13	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:42788552A>G	uc002xli.1	-	2	1748	c.875T>C	c.(874-876)ATG>ACG	p.M292T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	292	MORN 7.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTCGCCCATGTAGGTCTC	0.701													G	42788552	A	G	42788552	3	3	272	1	0	0	0	0	1	0	0	0	7961	217	8	3	1231	3	JPH2	20	42788552	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	699869	42788552	20236968	2016	137127											
PKIG	11142	broad.mit.edu	37	chr20	43243243	43243243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacttcatctcctgtgacCggacaggccgtcggaatgcg	13	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:43243243C>T	uc002xmg.2	+	5	575	c.46C>T	c.(46-48)CGG>TGG	p.R16W	PKIG_uc002xmh.2_Missense_Mutation_p.R16W|PKIG_uc002xmi.2_Missense_Mutation_p.R16W	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	cAMP-dependent protein kinase inhibitor gamma	16							cAMP-dependent protein kinase inhibitor activity|protein binding				0		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CTCCTGTGACCGGACAGGCCG	0.627													T	43243243	C	T	43243243	3	4	272	1	0	0	0	0	1	0	0	0	11975	643	23	1	48	1	PKIG	20	43243243	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	454691	43243243	19782277	2017	137128											
PABPC1L	80336	broad.mit.edu	37	chr20	43545432	43545432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggctcccggggtttcggCtttgtccattttgagaccca	11	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:43545432C>T	uc010ggv.1	+	3	505	c.423C>T	c.(421-423)GGC>GGT	p.G141G	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	141	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						GGGGTTTCGGCTTTGTCCATT	0.577													T	43545432	C	T	43545432	2	4	272	1	0	0	0	0	0	0	0	1	11364	784	28	2		2	PABPC1L	20	43545432	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	302189	43545432	19480088	2018	137129											
SNX21	90203	broad.mit.edu	37	chr20	44469465	44469465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagaccattgcccgccGtagccgggcctttgagcagt	13	13	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:44469465G>A	uc002xpv.1	+	4	724	c.635G>A	c.(634-636)CGT>CAT	p.R212H	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R23H|SNX21_uc002xpx.2_Missense_Mutation_p.R202H|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R23H|SNX21_uc002xpz.1_Missense_Mutation_p.R23H	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	212	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ATTGCCCGCCGTAGCCGGGCC	0.642													A	44469465	G	A	44469465	3	1	272	1	0	0	0	0	1	0	0	0	14893	1145	40	1	664	1	SNX21	20	44469465	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	924033	44469465	18556055	2019	137130											
ACOT8	10005	broad.mit.edu	37	chr20	44470568	44470568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatcctgacgccacagcCgcccatggaccagcccccga	8	21	0	1	rs150475004		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:44470568C>T	uc002xqa.1	-	6	950	c.869G>A	c.(868-870)CGG>CAG	p.R290Q	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpv.1_3'UTR|SNX21_uc002xpw.1_3'UTR|SNX21_uc002xpx.2_3'UTR|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_3'UTR|SNX21_uc002xpz.1_3'UTR	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	290					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			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACGCCACAGCCGCCCATGGAC	0.547													T	44470568	C	T	44470568	3	4	272	1	0	0	0	0	1	0	0	0	156	652	23	1	94	1	ACOT8	20	44470568	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1103	44470568	18554952	2020	137131											
ACOT8	10005	broad.mit.edu	37	chr20	44472981	44472981	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggggatgggtttacTggcttgatctcaatggggac	16	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:44472981T>C	uc002xqa.1	-	4	648	c.567A>G	c.(565-567)CCA>CCG	p.P189P	ACOT8_uc010zxe.1_Silent_p.P189P|ACOT8_uc002xqc.1_Silent_p.P136P|ACOT8_uc010zxf.1_Silent_p.P69P	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	189					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			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ATGGGTTTACTGGCTTGATCT	0.547													C	44472981	T	C	44472981	2	2	272	1	0	0	0	0	0	0	0	1	156	1567	55	3		3	ACOT8	20	44472981	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2413	44472981	18552539	2021	137132											
ELMO2	63916	broad.mit.edu	37	chr20	45002176	45002176	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcgtccttcatttgcTgtggaagtgaaaaaacaggg	11	7	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45002176T>C	uc002xrt.1	-	16	1490	c.1280_splice	c.e16-1	p.P427_splice	ELMO2_uc010zxq.1_Splice_Site_p.P159_splice|ELMO2_uc002xrs.1_Splice_Site_p.P174_splice|ELMO2_uc002xru.1_Splice_Site_p.P427_splice|ELMO2_uc010zxr.1_Splice_Site_p.P439_splice|ELMO2_uc010zxs.1_Splice_Site_p.P244_splice|ELMO2_uc002xrv.1_Splice_Site_p.P146_splice|ELMO2_uc002xrw.2_Intron	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTTCATTTGCTGTGGAAGTGA	0.488													C	45002176	T	C	45002176	5	2	272	1	0	0	0	0	0	0	1	0	5066	1594	55	3	912	3	ELMO2	20	45002176	Splice_Site	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	529195	45002176	18023344	2022	137133											
SLC13A3	64849	broad.mit.edu	37	chr20	45228639	45228639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgagaaactgcatctcCgtgggcacagtgtgtaggcc	14	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45228639C>T	uc002xsf.1	-	4	617	c.579G>A	c.(577-579)ACG>ACA	p.T193T	SLC13A3_uc010ghn.1_Silent_p.T162T|SLC13A3_uc010zxw.1_Intron|SLC13A3_uc002xsg.1_Silent_p.T146T|SLC13A3_uc010gho.1_Silent_p.T146T|SLC13A3_uc010zxx.1_Silent_p.T95T	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	193	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACTGCATCTCCGTGGGCACAG	0.468													T	45228639	C	T	45228639	2	4	272	1	0	0	0	0	0	0	0	1	14393	639	23	1		1	SLC13A3	20	45228639	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	226463	45228639	17796881	2023	137134											
TP53RK	112858	broad.mit.edu	37	chr20	45315634	45315634	+	Frame_Shift_Del	DEL	G	G	-													cacaatgttcagctgttccaGggggggtttcaggagcatgt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45315633_45315633AG>A	uc002xsk.3	-	1	744	c.521_521CT>T	c.(520-522)ctgfs	p.L174fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	174	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(2)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTGTTCCAGGGGGGGTTT	0.493													-	45315634	G	-	45315634	7	5	272	1	0	1	0	1	0	0	0	0	16387	991	35	0	245	0	TP53RK	20	45315634	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	86995	45315634	17709886	2024	137135											
SLC2A10	81031	broad.mit.edu	37	chr20	45353746	45353746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcctgacctttggttAtgaactggcagtcatatcag	13	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45353746A>G	uc002xsl.2	+	2	168	c.71A>G	c.(70-72)TAT>TGT	p.Y24C		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	24	Helical; Name=1; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ACCTTTGGTTATGAACTGGCA	0.552													G	45353746	A	G	45353746	3	3	272	1	0	0	0	0	1	0	0	0	14539	449	16	3	77	3	SLC2A10	20	45353746	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	38112	45353746	17671774	2025	137136											
SLC2A10	81031	broad.mit.edu	37	chr20	45354606	45354606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccctcatggccctgtccGtcagtggcataggcctcgtc	12	15	2	0	rs139932041		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45354606G>A	uc002xsl.2	+	2	1028	c.931G>A	c.(931-933)GTC>ATC	p.V311I		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	311	Helical; Name=9; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGCCCTGTCCGTCAGTGGCAT	0.662													A	45354606	G	A	45354606	3	1	272	1	0	0	0	0	1	0	0	0	14539	1145	40	1	937	1	SLC2A10	20	45354606	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	860	45354606	17670914	2026	137137											
ZMYND8	23613	broad.mit.edu	37	chr20	45874806	45874806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattttttcgaccctcccGcccagaatggtcttctccta	5	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45874806G>A	uc002xta.1	-	14	2424	c.2170C>T	c.(2170-2172)CGG>TGG	p.R724W	ZMYND8_uc010ghq.1_Missense_Mutation_p.R401W|ZMYND8_uc010ghr.1_Missense_Mutation_p.R699W|ZMYND8_uc002xst.1_Missense_Mutation_p.R652W|ZMYND8_uc002xsu.1_Missense_Mutation_p.R724W|ZMYND8_uc002xsv.1_Missense_Mutation_p.R652W|ZMYND8_uc002xsw.1_Missense_Mutation_p.R476W|ZMYND8_uc002xsx.1_Missense_Mutation_p.R476W|ZMYND8_uc002xsy.1_Missense_Mutation_p.R699W|ZMYND8_uc002xsz.1_Missense_Mutation_p.R661W|ZMYND8_uc010zxy.1_Missense_Mutation_p.R751W|ZMYND8_uc002xtb.1_Missense_Mutation_p.R744W|ZMYND8_uc002xss.2_Missense_Mutation_p.R724W|ZMYND8_uc010zxz.1_Missense_Mutation_p.R719W|ZMYND8_uc002xtc.1_Missense_Mutation_p.R744W|ZMYND8_uc002xtd.1_Missense_Mutation_p.R719W|ZMYND8_uc002xte.1_Missense_Mutation_p.R724W|ZMYND8_uc010zya.1_Missense_Mutation_p.R724W|ZMYND8_uc002xtf.1_Missense_Mutation_p.R744W|ZMYND8_uc002xtg.2_Missense_Mutation_p.R718W|ZMYND8_uc010ghs.1_Missense_Mutation_p.R718W	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	724							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGACCCTCCCGCCCAGAATGG	0.433													A	45874806	G	A	45874806	3	1	272	1	0	0	0	0	1	0	0	0	17708	1086	38	1	1376	1	ZMYND8	20	45874806	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	520200	45874806	17150714	2027	137138											
SULF2	55959	broad.mit.edu	37	chr20	46301066	46301066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggagagggctctgctgccGcccagccgcatggggccctt	15	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:46301066G>A	uc002xto.2	-	11	1782	c.1452C>T	c.(1450-1452)GGC>GGT	p.G484G	SULF2_uc002xtr.2_Silent_p.G484G|SULF2_uc002xtq.2_Silent_p.G484G	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	484					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			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CTCTGCTGCCGCCCAGCCGCA	0.657													A	46301066	G	A	46301066	2	1	272	1	0	0	0	0	0	0	0	1	15370	1074	38	1		1	SULF2	20	46301066	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	426260	46301066	16724454	2028	137139											
ARFGEF2	10564	broad.mit.edu	37	chr20	47582548	47582548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcagtccttgtcgtcAgcagataatctggtatgttg	12	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:47582548A>G	uc002xtx.3	+	8	1199	c.1047A>G	c.(1045-1047)TCA>TCG	p.S349S		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	349					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTTGTCGTCAGCAGATAATC	0.438													G	47582548	A	G	47582548	2	3	272	1	0	0	0	0	0	0	0	1	853	175	7	3		3	ARFGEF2	20	47582548	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1281482	47582548	15442972	2029	137140											
MOCS3	27304	broad.mit.edu	37	chr20	49575847	49575847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcagtggaatgcgtgccGtacactcaggcccttacgcc	12	14	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:49575847G>A	uc002xvy.1	+	1	485	c.468G>A	c.(466-468)CCG>CCA	p.P156P	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	156					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			skin(2)|ovary(1)	3						AATGCGTGCCGTACACTCAGG	0.652													A	49575847	G	A	49575847	2	1	272	1	0	0	0	0	0	0	0	1	9692	1132	40	1		1	MOCS3	20	49575847	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1993299	49575847	13449673	2030	137141											
NFATC2	4773	broad.mit.edu	37	chr20	50090678	50090678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaagcttcaagatccccGcacagtcgatgctgccagga	9	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50090678G>A	uc002xwd.2	-	5	1767	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V	NFATC2_uc002xwc.2_Missense_Mutation_p.A516V|NFATC2_uc010zyv.1_Missense_Mutation_p.A297V|NFATC2_uc010zyw.1_Missense_Mutation_p.A297V|NFATC2_uc010zyx.1_Missense_Mutation_p.A496V|NFATC2_uc010zyy.1_Missense_Mutation_p.A297V|NFATC2_uc010zyz.1_Missense_Mutation_p.A297V|NFATC2_uc002xwe.2_Missense_Mutation_p.A496V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	516	RHD.				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			ovary(2)	2	Hepatocellular(150;0.248)					CAAGATCCCCGCACAGTCGAT	0.532													A	50090678	G	A	50090678	3	1	272	1	0	0	0	0	1	0	0	0	10362	1087	38	1	1302	1	NFATC2	20	50090678	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	514831	50090678	12934842	2031	137142											
NFATC2	4773	broad.mit.edu	37	chr20	50139915	50139915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtacccagccggggagcCgtggtcctggggtgccacgt	19	12	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50139915C>T	uc002xwd.2	-	2	1085	c.865G>A	c.(865-867)GGC>AGC	p.G289S	NFATC2_uc002xwc.2_Missense_Mutation_p.G289S|NFATC2_uc010zyv.1_Missense_Mutation_p.G70S|NFATC2_uc010zyw.1_Missense_Mutation_p.G70S|NFATC2_uc010zyx.1_Missense_Mutation_p.G269S|NFATC2_uc010zyy.1_Missense_Mutation_p.G70S|NFATC2_uc010zyz.1_Missense_Mutation_p.G70S|NFATC2_uc002xwe.2_Missense_Mutation_p.G269S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	289					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			ovary(2)	2	Hepatocellular(150;0.248)					GCCGGGGAGCCGTGGTCCTGG	0.711													T	50139915	C	T	50139915	3	4	272	1	0	0	0	0	1	0	0	0	10362	652	23	1	1996	1	NFATC2	20	50139915	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	49237	50139915	12885605	2032	137143											
ATP9A	10079	broad.mit.edu	37	chr20	50290784	50290784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggcaaccatgaccagCgagaccaccaccagggcacc	11	15	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50290784C>T	uc002xwg.1	-	11	945	c.945G>A	c.(943-945)TCG>TCA	p.S315S	ATP9A_uc010gih.1_Silent_p.S179S|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	315	Helical; (Potential).				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			ovary(4)	4						CCATGACCAGCGAGACCACCA	0.542													T	50290784	C	T	50290784	2	4	272	1	0	0	0	0	0	0	0	1	1198	755	27	1		1	ATP9A	20	50290784	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	150869	50290784	12734736	2033	137144											
SALL4	57167	broad.mit.edu	37	chr20	50407935	50407935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcggagatgttcggtgGcttccccttccctttcttgg	11	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50407935G>A	uc002xwh.3	-	2	1188	c.1087C>T	c.(1087-1089)CCA>TCA	p.P363S	SALL4_uc010gii.2_Missense_Mutation_p.P363S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	363					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATGTTCGGTGGCTTCCCCTTC	0.572													A	50407935	G	A	50407935	3	1	272	1	0	0	0	0	1	0	0	0	13813	1203	42	2	2086	2	SALL4	20	50407935	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	117151	50407935	12617585	2034	137145											
ZFP64	55734	broad.mit.edu	37	chr20	50715063	50715063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatgacaggggccttcGgagtgtcagtgctttcagtg	16	7	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50715063G>A	uc002xwk.2	-	6	1176	c.827C>T	c.(826-828)CCG>CTG	p.P276L	ZFP64_uc002xwj.2_Missense_Mutation_p.P57L	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGGGCCTTCGGAGTGTCAGT	0.468													A	50715063	G	A	50715063	3	1	272	1	0	0	0	0	1	0	0	0	17649	1116	39	1	1126	1	ZFP64	20	50715063	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	307128	50715063	12310457	2035	137146											
TSHZ2	128553	broad.mit.edu	37	chr20	51872628	51872628	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatacctgctgtctgatctGggcccacaagagcgtatgca	10	11	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:51872628G>T	uc002xwo.2	+	2	3587	c.2631G>T	c.(2629-2631)CTG>CTT	p.L877L		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	877	Homeobox; atypical.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			TGTCTGATCTGGGCCCACAAG	0.507													T	51872628	G	T	51872628	2	4	272	1	0	0	0	0	0	0	0	1	16621	1335	47	5		5	TSHZ2	20	51872628	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1157565	51872628	11152892	2036	137147											
ZNF217	7764	broad.mit.edu	37	chr20	52198490	52198490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcctggaaggtggtgaaCggatcgagctgagggatgca	17	7	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:52198490C>T	uc002xwq.3	-	1	1147	c.876G>A	c.(874-876)CCG>CCA	p.P292P	ZNF217_uc010gij.1_Silent_p.P284P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	292					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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			AGGTGGTGAACGGATCGAGCT	0.542													T	52198490	C	T	52198490	2	4	272	1	0	0	0	0	0	0	0	1	17769	523	19	1		1	ZNF217	20	52198490	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	325862	52198490	10827030	2037	137148											
CASS4	57091	broad.mit.edu	37	chr20	55033646	55033646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgcaacgagatcctccGtggcagcagtcacctctgca	11	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:55033646G>A	uc002xxp.2	+	7	2429	c.2204G>A	c.(2203-2205)CGT>CAT	p.R735H	CASS4_uc002xxr.2_Missense_Mutation_p.R735H|CASS4_uc010zze.1_Missense_Mutation_p.R681H|CASS4_uc010gio.2_Missense_Mutation_p.R298H	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	735					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GAGATCCTCCGTGGCAGCAGT	0.622													A	55033646	G	A	55033646	3	1	272	1	0	0	0	0	1	0	0	0	2683	1145	40	1	2226	1	CASS4	20	55033646	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2835156	55033646	7991874	2038	137149											
RBM38	55544	broad.mit.edu	37	chr20	55982697	55982697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgccctacattgagtAcacgccggccagcccggcct	10	18	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:55982697A>G	uc010zzj.1	+	4	690	c.515A>G	c.(514-516)TAC>TGC	p.Y172C	RBM38_uc010zzk.1_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	RNA-binding region containing protein 1 isoform	172					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|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding				0	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)			TACATTGAGTACACGCCGGCC	0.677													G	55982697	A	G	55982697	3	3	272	1	0	0	0	0	1	0	0	0	13132	391	14	3	288	3	RBM38	20	55982697	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	949051	55982697	7042823	2039	137150											
PCK1	5105	broad.mit.edu	37	chr20	56136502	56136502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaaacggcctgaacctctCggccaaagttgtccagggaa	11	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:56136502C>T	uc002xyn.3	+	2	198	c.35C>T	c.(34-36)TCG>TTG	p.S12L	PCK1_uc010zzm.1_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	12					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			skin(1)	1	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)			CTGAACCTCTCGGCCAAAGTT	0.547													T	56136502	C	T	56136502	3	4	272	1	0	0	0	0	1	0	0	0	11581	893	31	1	37	1	PCK1	20	56136502	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	153805	56136502	6889018	2040	137151											
APCDD1L	164284	broad.mit.edu	37	chr20	57042225	57042225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcctctccgccgggtcGgtgtggatgtcccccaggta	14	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:57042225G>A	uc002xze.1	-	3	864	c.678C>T	c.(676-678)ACC>ACT	p.T226T	APCDD1L_uc010zzp.1_Silent_p.T237T	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	226						integral to membrane				ovary(1)	1	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)			CCGCCGGGTCGGTGTGGATGT	0.731													A	57042225	G	A	57042225	2	1	272	1	0	0	0	0	0	0	0	1	766	1103	39	1		1	APCDD1L	20	57042225	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	905723	57042225	5983295	2041	137152											
ZNF831	128611	broad.mit.edu	37	chr20	57766653	57766653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctacaagcacaggcggacGcagacgcacctcaacaactc	8	16	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:57766653G>A	uc002yan.2	+	1	579	c.579G>A	c.(577-579)ACG>ACA	p.T193T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACAGGCGGACGCAGACGCACC	0.662													A	57766653	G	A	57766653	2	1	272	1	0	0	0	0	0	0	0	1	18182	1074	38	1		1	ZNF831	20	57766653	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	724428	57766653	5258867	2042	137153											
PHACTR3	116154	broad.mit.edu	37	chr20	58349514	58349514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgcttttgtatcaggaCgaggaggcgctgaacgactc	13	9	1	1	rs142106796	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:58349514C>T	uc002yau.2	+	7	1610	c.1143C>T	c.(1141-1143)GAC>GAT	p.D381D	PHACTR3_uc002yat.2_Silent_p.D378D|PHACTR3_uc010zzw.1_Silent_p.D340D|PHACTR3_uc002yav.2_Silent_p.D340D|PHACTR3_uc002yaw.2_Silent_p.D340D|PHACTR3_uc002yax.2_Silent_p.D270D	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	381						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGTATCAGGACGAGGAGGCGC	0.502													T	58349514	C	T	58349514	2	4	272	1	0	0	0	0	0	0	0	1	11811	535	19	1		1	PHACTR3	20	58349514	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	582861	58349514	4676006	2043	137154											
SYCP2	10388	broad.mit.edu	37	chr20	58486832	58486832	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctccagcaatgtagaatgaGagagtctgactcccaagatt	9	9	2	5			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:58486832G>T	uc002yaz.2	-	13	1084	c.945C>A	c.(943-945)CTC>CTA	p.L315L	SYCP2_uc010gju.1_Silent_p.L216L	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	315					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGTAGAATGAGAGAGTCTGAC	0.279													T	58486832	G	T	58486832	2	4	272	1	0	0	0	0	0	0	0	1	15429	929	33	5		5	SYCP2	20	58486832	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	137318	58486832	4538688	2044	137155											
CDH4	1002	broad.mit.edu	37	chr20	60469990	60469990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcagtacacagtcatcGttcaggccacagatatggaa	9	10	3	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60469990G>A	uc002ybn.1	+	8	1089	c.1075G>A	c.(1075-1077)GTT>ATT	p.V359I	CDH4_uc002ybp.1_Missense_Mutation_p.V285I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	359	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACAGTCATCGTTCAGGCCAC	0.443													A	60469990	G	A	60469990	3	1	272	1	0	0	0	0	1	0	0	0	3112	1145	40	1	1105	1	CDH4	20	60469990	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1983158	60469990	2555530	2045	137156											
LAMA5	3911	broad.mit.edu	37	chr20	60885620	60885620	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcacacagccgctgaacccGacggtcacctataggagcag	10	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60885620G>A	uc002ycq.2	-	76	10522	c.10455C>T	c.(10453-10455)GTC>GTT	p.V3485V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3485	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTGAACCCGACGGTCACCT	0.672													A	60885620	G	A	60885620	2	1	272	1	0	0	0	0	0	0	0	1	8609	1045	37	1		1	LAMA5	20	60885620	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	415630	60885620	2139900	2046	137157											
LAMA5	3911	broad.mit.edu	37	chr20	60887968	60887968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggccgaggtcaggggCggtgggggctgcagtgggac	22	8	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60887968C>T	uc002ycq.2	-	66	9121	c.9054G>A	c.(9052-9054)CCG>CCA	p.P3018P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3018	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTCAGGGGCGGTGGGGGCT	0.667													T	60887968	C	T	60887968	2	4	272	1	0	0	0	0	0	0	0	1	8609	755	27	1		1	LAMA5	20	60887968	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2348	60887968	2137552	2047	137158											
LAMA5	3911	broad.mit.edu	37	chr20	60889877	60889877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggcagccccccgggccTgggcaatgagctctcgcacg	13	16	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60889877T>C	uc002ycq.2	-	60	8241	c.8174A>G	c.(8173-8175)CAG>CGG	p.Q2725R		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2725	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCCGGGCCTGGGCAATGAG	0.672													C	60889877	T	C	60889877	3	2	272	1	0	0	0	0	1	0	0	0	8609	1580	55	3	2997	3	LAMA5	20	60889877	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1909	60889877	2135643	2048	137159											
CABLES2	81928	broad.mit.edu	37	chr20	60966136	60966136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaaaccctatcaggtcgCgcctgttgaatcgaaacctt	7	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60966136C>T	uc002ycv.2	-	10	1335	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	443					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TATCAGGTCGCGCCTGTTGAA	0.557													T	60966136	C	T	60966136	3	4	272	1	0	0	0	0	1	0	0	0	2530	768	27	1	112	1	CABLES2	20	60966136	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	76259	60966136	2059384	2049	137160											
DIDO1	11083	broad.mit.edu	37	chr20	61542717	61542717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgctcctcctgccgcggCgccgcgcaatggtcaggaac	13	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61542717C>T	uc002ydr.1	-	3	512	c.248G>A	c.(247-249)CGC>CAC	p.R83H	DIDO1_uc002yds.1_Missense_Mutation_p.R83H|DIDO1_uc002ydt.1_Missense_Mutation_p.R83H|DIDO1_uc002ydu.1_Missense_Mutation_p.R83H|DIDO1_uc002ydv.1_Missense_Mutation_p.R83H|DIDO1_uc002ydw.1_Missense_Mutation_p.R83H|DIDO1_uc002ydx.1_Missense_Mutation_p.R83H|DIDO1_uc011aao.1_Missense_Mutation_p.R83H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	83					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CCTGCCGCGGCGCCGCGCAAT	0.706													T	61542717	C	T	61542717	3	4	272	1	0	0	0	0	1	0	0	0	4522	768	27	1	6660	1	DIDO1	20	61542717	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	576581	61542717	1482803	2050	137161											
DIDO1	11083	broad.mit.edu	37	chr20	61542746	61542746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtcaggaactgctccacGcgctcagtgcgcttgggctg	14	12	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61542746G>A	uc002ydr.1	-	3	483	c.219C>T	c.(217-219)CGC>CGT	p.R73R	DIDO1_uc002yds.1_Silent_p.R73R|DIDO1_uc002ydt.1_Silent_p.R73R|DIDO1_uc002ydu.1_Silent_p.R73R|DIDO1_uc002ydv.1_Silent_p.R73R|DIDO1_uc002ydw.1_Silent_p.R73R|DIDO1_uc002ydx.1_Silent_p.R73R|DIDO1_uc011aao.1_Silent_p.R73R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	73					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ACTGCTCCACGCGCTCAGTGC	0.711													A	61542746	G	A	61542746	2	1	272	1	0	0	0	0	0	0	0	1	4522	1074	38	1		1	DIDO1	20	61542746	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	29	61542746	1482774	2051	137162											
COL20A1	57642	broad.mit.edu	37	chr20	61937336	61937336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggagcccagaccctgaGcaggcttctgagccccaagt	13	14	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61937336G>A	uc011aau.1	+	5	541	c.441G>A	c.(439-441)GAG>GAA	p.E147E	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	147					cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CAGACCCTGAGCAGGCTTCTG	0.652													A	61937336	G	A	61937336	2	1	272	1	0	0	0	0	0	0	0	1	3679	962	34	2		2	COL20A1	20	61937336	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	394590	61937336	1088184	2052	137163											
CHRNA4	1137	broad.mit.edu	37	chr20	61978175	61978175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatccagaggaagatgCggtcgatgaccatggccacg	13	10	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61978175C>T	uc002yes.2	-	6	1977	c.1799G>A	c.(1798-1800)CGC>CAC	p.R600H	CHRNA4_uc002yet.1_Missense_Mutation_p.R424H|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R529H|CHRNA4_uc002yev.1_Missense_Mutation_p.R424H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R424H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	600	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GAGGAAGATGCGGTCGATGAC	0.657													T	61978175	C	T	61978175	3	4	272	1	0	0	0	0	1	0	0	0	3385	768	27	1	88	1	CHRNA4	20	61978175	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	40839	61978175	1047345	2053	137164											
PRIC285	85441	broad.mit.edu	37	chr20	62197056	62197056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagccgctcctgccGcacaggccccgggcaccacg	12	20	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62197056G>A	uc002yfm.2	-	9	4011	c.3119C>T	c.(3118-3120)GCG>GTG	p.A1040V	PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1040	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTCCTGCCGCACAGGCCCC	0.687													A	62197056	G	A	62197056	3	1	272	1	0	0	0	0	1	0	0	0	12485	1087	38	1	4878	1	PRIC285	20	62197056	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	218881	62197056	828464	2054	137165											
GMEB2	26205	broad.mit.edu	37	chr20	62223446	62223446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggccagcaccttcttcAccaggtccagcatgccgaag	11	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62223446A>G	uc002yfp.1	-	8	1360	c.881T>C	c.(880-882)GTG>GCG	p.V294A	GMEB2_uc002yfo.1_Missense_Mutation_p.V216A|GMEB2_uc002yfq.1_Missense_Mutation_p.V294A	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	294					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	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)			CACCTTCTTCACCAGGTCCAG	0.602													G	62223446	A	G	62223446	3	3	272	1	0	0	0	0	1	0	0	0	6488	159	6	3	719	3	GMEB2	20	62223446	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	26390	62223446	802074	2055	137166											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62373333	62373333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtgaccagtcctctcCgtccaccccgtcacccccac	7	22	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62373333C>T	uc002ygq.2	+	4	558	c.503C>T	c.(502-504)CCG>CTG	p.P168L	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.P63L|SLC2A4RG_uc011abj.1_Missense_Mutation_p.P63L|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	168						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGTCCTCTCCGTCCACCCCG	0.677													T	62373333	C	T	62373333	3	4	272	1	0	0	0	0	1	0	0	0	14547	652	23	1	517	1	SLC2A4RG	20	62373333	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	149887	62373333	652187	2056	137167											
ZBTB46	140685	broad.mit.edu	37	chr20	62378374	62378374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtcgtccgccaacagcGcatcctcaggggccaggccc	11	18	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62378374G>A	uc002ygv.1	-	5	1880	c.1679C>T	c.(1678-1680)GCG>GTG	p.A560V	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCCAACAGCGCATCCTCAGG	0.711													A	62378374	G	A	62378374	3	1	272	1	0	0	0	0	1	0	0	0	17544	1087	38	1	94	1	ZBTB46	20	62378374	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5041	62378374	647146	2057	137168											
ZBTB46	140685	broad.mit.edu	37	chr20	62421431	62421431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacctgctcttccttgatgCgcagaggcccgtagcccacg	10	15	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62421431C>T	uc002ygv.1	-	2	881	c.680G>A	c.(679-681)CGC>CAC	p.R227H	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTCCTTGATGCGCAGAGGCCC	0.577													T	62421431	C	T	62421431	3	4	272	1	0	0	0	0	1	0	0	0	17544	768	27	1	1105	1	ZBTB46	20	62421431	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	43057	62421431	604089	2058	137169											
UCKL1	54963	broad.mit.edu	37	chr20	62572555	62572555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggtgtgccgaggccagCgcagccctggggacaaaccg	15	14	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62572555C>T	uc010gkn.2	-	9	973	c.930G>A	c.(928-930)GCG>GCA	p.A310A	UCKL1_uc002yhj.2_5'UTR|UCKL1_uc011abm.1_Silent_p.A295A|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	310					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCGAGGCCAGCGCAGCCCTGG	0.662													T	62572555	C	T	62572555	2	4	272	1	0	0	0	0	0	0	0	1	16922	755	27	1		1	UCKL1	20	62572555	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	151124	62572555	452965	2059	137170											
NPBWR2	2832	broad.mit.edu	37	chr20	62737267	62737267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcaggcacgagttggcGtagctgaggctggtgatgac	18	7	1	3	rs139194738		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62737267G>A	uc011abt.1	-	1	918	c.918C>T	c.(916-918)TAC>TAT	p.Y306Y		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	306	Helical; Name=7; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACGAGTTGGCGTAGCTGAGGC	0.582													A	62737267	G	A	62737267	2	1	272	1	0	0	0	0	0	0	0	1	10569	1140	40	1		1	NPBWR2	20	62737267	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	164712	62737267	288253	2060	137171											
MYT1	4661	broad.mit.edu	37	chr20	62859258	62859258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgtccggctgccctcGtgcaaagaaaagtggagtca	12	11	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62859258G>A	uc002yii.2	+	18	2973	c.2609G>A	c.(2608-2610)CGT>CAT	p.R870H	MYT1_uc002yih.2_Missense_Mutation_p.R549H|MYT1_uc002yij.2_Missense_Mutation_p.R529H	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	870					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGCTGCCCTCGTGCAAAGAAA	0.542													A	62859258	G	A	62859258	3	1	272	1	0	0	0	0	1	0	0	0	10106	1145	40	1	2671	1	MYT1	20	62859258	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	121991	62859258	166262	2061	137172											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327176	28327176	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtgtcacatgaatgAtgcccacataaatcctgccc	8	14	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:28327176A>G	uc002ymg.2	-	2	1848	c.1119T>C	c.(1117-1119)CAT>CAC	p.H373H		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	373	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CACATGAATGATGCCCACATA	0.493													G	28327176	A	G	28327176	2	3	272	1	0	0	0	0	0	0	0	1	269	330	12	3		3	ADAMTS5	21	28327176	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08		28327176	19802719	2062	137173											
RNF160	26046	broad.mit.edu	37	chr21	30330717	30330717	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggttacctgttgataTccaaagatgaagcctgaact	8	7	0	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:30330717T>A	uc002ymr.2	-	14	2889	c.2876A>T	c.(2875-2877)GAT>GTT	p.D959V		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	913							ligase activity|zinc ion binding				0						CCTGTTGATATCCAAAGATGA	0.373													A	30330717	T	A	30330717	3	1	272	1	0	0	0	0	1	0	0	0	13455	1435	50	5	2630	5	RNF160	21	30330717	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	2003541	30330717	17799178	2063	137174											
USP16	10600	broad.mit.edu	37	chr21	30408598	30408598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgggtcacaggtgttaCgtatgtgataatgaggtcca	12	5	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:30408598C>T	uc002ymy.2	+	5	553	c.351C>T	c.(349-351)TAC>TAT	p.Y117Y	USP16_uc002ymx.2_Silent_p.Y117Y|USP16_uc002ymw.2_Silent_p.Y117Y|USP16_uc011acm.1_Silent_p.Y103Y|USP16_uc011acn.1_Intron	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	117	UBP-type.				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			ovary(2)|breast(1)|pancreas(1)	4						ACAGGTGTTACGTATGTGATA	0.388													T	30408598	C	T	30408598	2	4	272	1	0	0	0	0	0	0	0	1	17044	547	19	1		1	USP16	21	30408598	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	77881	30408598	17721297	2064	137175											
CRYZL1	9946	broad.mit.edu	37	chr21	34962202	34962202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacttttgcctcatacaGtggaatgggttcatccaact	9	9	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:34962202G>A	uc011adw.1	-	13	1156	c.976C>T	c.(976-978)CTG>TTG	p.L326L	DONSON_uc002ysn.1_Intron|DONSON_uc002ysj.2_5'Flank|DONSON_uc002ysk.2_5'Flank|DONSON_uc002ysl.2_5'Flank|DONSON_uc010gme.2_5'Flank|DONSON_uc002ysm.2_5'UTR	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	326					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						GCCTCATACAGTGGAATGGGT	0.363													A	34962202	G	A	34962202	2	1	272	1	0	0	0	0	0	0	0	1	3923	1020	36	4		4	CRYZL1	21	34962202	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	4553604	34962202	13167693	2065	137176											
DOPEY2	9980	broad.mit.edu	37	chr21	37605203	37605203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggccatttccactctgCtggaagtgataaaccattcc	8	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:37605203C>T	uc002yvg.2	+	15	2531	c.2452C>T	c.(2452-2454)CTG>TTG	p.L818L	DOPEY2_uc011aeb.1_Silent_p.L818L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	818					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TTCCACTCTGCTGGAAGTGAT	0.488													T	37605203	C	T	37605203	2	4	272	1	0	0	0	0	0	0	0	1	4708	796	28	2		2	DOPEY2	21	37605203	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2643001	37605203	10524692	2066	137177											
DOPEY2	9980	broad.mit.edu	37	chr21	37605312	37605312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaagctgcagatggtgaCggttcctcccattgctccag	12	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:37605312C>T	uc002yvg.2	+	15	2640	c.2561C>T	c.(2560-2562)ACG>ATG	p.T854M	DOPEY2_uc011aeb.1_Missense_Mutation_p.T854M	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	854					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGATGGTGACGGTTCCTCCC	0.393													T	37605312	C	T	37605312	3	4	272	1	0	0	0	0	1	0	0	0	4708	536	19	1	2615	1	DOPEY2	21	37605312	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	109	37605312	10524583	2067	137178											
DSCR6	53820	broad.mit.edu	37	chr21	38390443	38390443	+	Frame_Shift_Del	DEL	G	G	-													ctcaggagggggtgaccactGgggggagggtccgctccctc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:38390442_38390442TG>T	uc002yvv.3	+	3	718	c.508_508TG>T	c.(508-510)tggfs	p.W170fs	DSCR6_uc011aec.2_Frame_Shift_Del_p.T56fs|DSCR6_uc010gnd.3_Frame_Shift_Del_p.T56fs	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	170						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GGGTGACCACTGGGGGGAGGG	0.637													-	38390443	G	-	38390443	7	5	272	1	0	1	0	1	0	0	0	0	4773	1357	47	0	523	0	DSCR6	21	38390443	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	785131	38390443	9739452	2068	137179											
BRWD1	54014	broad.mit.edu	37	chr21	40636903	40636903	+	Frame_Shift_Del	DEL	A	A	-													aaaatgctgtccatcctgtgAaaacttacagtcaaacacag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:40636902_40636902GA>G	uc002yxk.2	-	15	1869	c.1574_1574TC>C	c.(1573-1575)tcafs	p.S525fs	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Frame_Shift_Del_p.S525fs|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Frame_Shift_Del_p.S245fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	525					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)				TCCATCCTGTGAAAACTTACA	0.383											OREG0003860	type=REGULATORY REGION|Gene=AK125906|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	40636903	A	-	40636903	7	5	272	1	0	1	0	1	0	0	0	0	1525	246	9	0	5736	0	BRWD1	21	40636903	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	2246460	40636903	7492992	2069	137180											
BACE2	25825	broad.mit.edu	37	chr21	42647425	42647425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctatgcgctcatgagCgtctgtggagccatcctcct	11	13	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:42647425C>T	uc002yyw.2	+	9	1894	c.1431C>T	c.(1429-1431)AGC>AGT	p.S477S	BACE2_uc002yyx.2_Silent_p.S427S|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	477	Helical; (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CGCTCATGAGCGTCTGTGGAG	0.567													T	42647425	C	T	42647425	2	4	272	1	0	0	0	0	0	0	0	1	1282	767	27	1		1	BACE2	21	42647425	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2010522	42647425	5482470	2070	137181											
TMPRSS2	7113	broad.mit.edu	37	chr21	42861455	42861455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttccagagtaggccagCggccagcgcagctcccacga	12	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:42861455C>T	uc002yzj.2	-	4	438	c.304G>A	c.(304-306)GCT>ACT	p.A102T	TMPRSS2_uc010gor.2_Missense_Mutation_p.A139T|TMPRSS2_uc010gos.1_Missense_Mutation_p.A102T	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	102	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGTAGGCCAGCGGCCAGCGCA	0.592			T	ERG|ETV1|ETV4|ETV5	prostate 								T	42861455	C	T	42861455	3	4	272	1	0	0	0	0	1	0	0	0	16244	768	27	1	1218	1	TMPRSS2	21	42861455	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	214030	42861455	5268440	2071	137182											
PRDM15	63977	broad.mit.edu	37	chr21	43259870	43259870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagggggttccccccGgggtgtgtcctgctccttct	13	15	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:43259870G>A	uc002yzq.1	-	14	1942	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W	PRDM15_uc002yzo.2_Missense_Mutation_p.R282W|PRDM15_uc002yzp.2_Missense_Mutation_p.R282W|PRDM15_uc002yzr.1_Missense_Mutation_p.R282W	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTTCCCCCCGGGGTGTGTCC	0.562													A	43259870	G	A	43259870	3	1	272	1	0	0	0	0	1	0	0	0	12456	1115	39	1	2764	1	PRDM15	21	43259870	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	398415	43259870	4870025	2072	137183											
CBS	875	broad.mit.edu	37	chr21	44488638	44488638	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagctcacacttcaggccGaacttcttcccaatcttgtt	6	14	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:44488638G>A	uc002zcu.2	-	4	542	c.297C>T	c.(295-297)TTC>TTT	p.F99F	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Silent_p.F99F|CBS_uc002zcw.3_Silent_p.F99F|CBS_uc002zcv.2_Silent_p.F99F	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	99					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTTCAGGCCGAACTTCTTCC	0.443													A	44488638	G	A	44488638	2	1	272	1	0	0	0	0	0	0	0	1	2711	1049	37	1		1	CBS	21	44488638	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1228768	44488638	3641257	2073	137184											
PWP2	5822	broad.mit.edu	37	chr21	45547815	45547815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcttaatttcccagggCgctgctgggcggccaccacc	11	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45547815C>T	uc002zeb.2	+	18	2233	c.2143C>T	c.(2143-2145)CGC>TGC	p.R715C		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	715	WD 14.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTTCCCAGGGCGCTGCTGGGC	0.473													T	45547815	C	T	45547815	3	4	272	1	0	0	0	0	1	0	0	0	12844	768	27	1	2213	1	PWP2	21	45547815	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1059177	45547815	2582080	2074	137185											
AIRE	326	broad.mit.edu	37	chr21	45713741	45713741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcggtgtactcactgcGccgctgccttccactggcgc	12	16	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45713741G>A	uc002zei.2	+	11	1475	c.1348G>A	c.(1348-1350)GCC>ACC	p.A450T	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.A253T|AIRE_uc010gpr.2_Missense_Mutation_p.A253T	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	450	PHD-type 2.			CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		TACTCACTGCGCCGCTGCCTT	0.652									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				A	45713741	G	A	45713741	3	1	272	1	0	0	0	0	1	0	0	0	437	1087	38	1	1678	1	AIRE	21	45713741	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	165926	45713741	2416154	2075	137186											
TRPM2	7226	broad.mit.edu	37	chr21	45815350	45815350	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttcctcaggccatgtgacCttcaccatggaccccatccg	8	17	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45815350C>A	uc002zet.1	+	13	2061	c.1848C>A	c.(1846-1848)ACC>ACA	p.T616T	TRPM2_uc002zeu.1_Silent_p.T616T|TRPM2_uc002zew.1_Silent_p.T616T|TRPM2_uc010gpt.1_Silent_p.T616T|TRPM2_uc002zex.1_Silent_p.T402T|TRPM2_uc002zey.1_Silent_p.T129T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	616	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCCATGTGACCTTCACCATGG	0.527													A	45815350	C	A	45815350	2	1	272	1	0	0	0	0	0	0	0	1	16583	668	24	5		5	TRPM2	21	45815350	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	101609	45815350	2314545	2076	137187											
LRRC3	81543	broad.mit.edu	37	chr21	45876939	45876939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccctgggcaaactcagcGccaagatacgcctgtcccac	9	17	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45876939G>A	uc002zfa.2	+	2	705	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	138	LRR 4.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CAAACTCAGCGCCAAGATACG	0.677													A	45876939	G	A	45876939	3	1	272	1	0	0	0	0	1	0	0	0	8984	1087	38	1	414	1	LRRC3	21	45876939	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	61589	45876939	2252956	2077	137188											
C21orf29	54084	broad.mit.edu	37	chr21	45949798	45949798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacacagccttggggtggCgtctgagcccggcagcagga	18	11	1	1	rs146216896		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45949798C>T	uc002zfe.1	-	5	739	c.673G>A	c.(673-675)GCC>ACC	p.A225T	C21orf29_uc010gpv.1_Missense_Mutation_p.A157T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	225					cell adhesion	extracellular region	structural molecule activity				0						CTTGGGGTGGCGTCTGAGCCC	0.672													T	45949798	C	T	45949798	3	4	272	1	0	0	0	0	1	0	0	0	2124	768	27	1	1368	1	C21orf29	21	45949798	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	72859	45949798	2180097	2078	137189											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978317	45978317	+	Frame_Shift_Del	DEL	G	G	-													acgcagcaggcctgctggcaGggggaggatgtgcagcaagc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45978316_45978316AG>A	uc002zfj.1	-	0	328	c.283_283CT>T	c.(283-285)tgcfs	p.C95fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	95	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						gcctgctggcagggggaggat	0.662													-	45978317	G	-	45978317	7	5	272	1	0	1	0	1	0	0	0	0	8510	987	35	0	387	0	KRTAP10-3	21	45978317	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	28519	45978317	2151578	2079	137190											
C21orf70	85395	broad.mit.edu	37	chr21	46396683	46396684	+	Frame_Shift_Ins	INS	-	-	G													catcgggcagacgctggcccINSggcagatgcagctggaagat							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:46396683_46396684insG	uc002zgl.2	+	6	676_677	c.658_659insG	c.(658-660)CGGfs	p.R220fs	C21orf70_uc002zgm.2_Frame_Shift_Ins_p.R205fs	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	220											0				Colorectal(79;0.248)		GACGCTGGCCCGGCAGATGCAG	0.653													G	46396684	-	G	46396683	7	5	272	1	0	1	1	0	0	0	0	0	2133	643	23	0	680	0	C21orf70	21	46396683	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	418366	46396683	1733212	2080	137191											
FTCD	10841	broad.mit.edu	37	chr21	47574137	47574137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctccaccacgcactccGgcggccccacgaaggtgtac	9	21	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47574137G>A	uc002zif.2	-	2	208	c.164C>T	c.(163-165)CCG>CTG	p.P55L	FTCD_uc002zig.2_Missense_Mutation_p.P55L|FTCD_uc002zih.2_Missense_Mutation_p.P55L|FTCD_uc010gqf.2_Missense_Mutation_p.P55L|FTCD_uc010gqg.1_5'UTR	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	55	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			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACGCACTCCGGCGGCCCCAC	0.662													A	47574137	G	A	47574137	3	1	272	1	0	0	0	0	1	0	0	0	6081	1116	39	1	1513	1	FTCD	21	47574137	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1177454	47574137	555758	2081	137192											
LSS	4047	broad.mit.edu	37	chr21	47611037	47611037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggggtggccagcaaggGctctctcagggtacagctgg	16	11	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47611037G>A	uc002zij.2	-	22	2259	c.2180C>T	c.(2179-2181)GCC>GTC	p.A727V	LSS_uc011afv.1_Missense_Mutation_p.A716V|LSS_uc002zil.2_Missense_Mutation_p.A727V|LSS_uc002zik.2_Missense_Mutation_p.A647V	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	727					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					GCCAGCAAGGGCTCTCTCAGG	0.627													A	47611037	G	A	47611037	3	1	272	1	0	0	0	0	1	0	0	0	9065	1203	42	2	22	2	LSS	21	47611037	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	36900	47611037	518858	2082	137193											
MCM3AP	8888	broad.mit.edu	37	chr21	47697552	47697552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacatggcccgaggccctCggagccctcggaggctgagt	14	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47697552C>T	uc002zir.1	-	5	1783	c.1747G>A	c.(1747-1749)GAG>AAG	p.E583K		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	583					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCGAGGCCCTCGGAGCCCTCG	0.542													T	47697552	C	T	47697552	3	4	272	1	0	0	0	0	1	0	0	0	9388	893	31	1	4291	1	MCM3AP	21	47697552	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	86515	47697552	432343	2083	137194											
C21orf58	54058	broad.mit.edu	37	chr21	47731429	47731429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaggaatctgtgctAtgagtggctgctgagggagc	20	5	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47731429A>G	uc002zjf.2	-	7	1796	c.662T>C	c.(661-663)ATA>ACA	p.I221T	C21orf58_uc002ziz.2_Missense_Mutation_p.I138T|C21orf58_uc002zja.2_Missense_Mutation_p.I115T|C21orf58_uc011afw.1_Missense_Mutation_p.I138T|C21orf58_uc002zjc.2_Missense_Mutation_p.I115T|C21orf58_uc011afx.1_Missense_Mutation_p.I115T|C21orf58_uc010gqj.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	221										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		AATCTGTGCTATGAGTGGCTG	0.493													G	47731429	A	G	47731429	3	3	272	1	0	0	0	0	1	0	0	0	2129	449	16	3	318	3	C21orf58	21	47731429	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	33877	47731429	398466	2084	137195											
PCNT	5116	broad.mit.edu	37	chr21	47817218	47817218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatctgaccaaagaacagtCggagaccaggaagcaggctg	14	9	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47817218C>T	uc002zji.3	+	22	4363	c.4256C>T	c.(4255-4257)TCG>TTG	p.S1419L	PCNT_uc002zjj.2_Missense_Mutation_p.S1301L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1419	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AAAGAACAGTCGGAGACCAGG	0.567													T	47817218	C	T	47817218	3	4	272	1	0	0	0	0	1	0	0	0	11590	893	31	1	4342	1	PCNT	21	47817218	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	85789	47817218	312677	2085	137196											
PCNT	5116	broad.mit.edu	37	chr21	47831466	47831466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagcgcctccagggcGcagaggaggctgcggagcta	17	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47831466G>A	uc002zji.3	+	28	5586	c.5479G>A	c.(5479-5481)GCA>ACA	p.A1827T	PCNT_uc002zjj.2_Missense_Mutation_p.A1709T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1827	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCTCCAGGGCGCAGAGGAGGC	0.687													A	47831466	G	A	47831466	3	1	272	1	0	0	0	0	1	0	0	0	11590	1087	38	1	5589	1	PCNT	21	47831466	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	14248	47831466	298429	2086	137197											
XKR3	150165	broad.mit.edu	37	chr22	17280908	17280908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtaatttctaatggtgtgCaaacacctgttaacatgaag	9	6	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:17280908C>A	uc002zlv.2	-	3	440	c.342G>T	c.(340-342)TTG>TTT	p.L114F	XKR3_uc011agf.1_Missense_Mutation_p.L114F	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	114	Helical; (Potential).					integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	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)				TAATGGTGTGCAAACACCTGT	0.348													A	17280908	C	A	17280908	3	1	272	1	0	0	0	0	1	0	0	0	17429	709	25	5	1045	5	XKR3	22	17280908	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		17280908	34023658	2087	137198											
CECR6	27439	broad.mit.edu	37	chr22	17600531	17600531	+	Frame_Shift_Del	DEL	A	A	-													tcttgagcatgaagatggagAggggctgctggtagctgacc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:17600531delA	uc002zmb.2	-	1	1683	c.1487delT	c.(1486-1488)CTCfs	p.L496fs	CECR6_uc002zma.2_Frame_Shift_Del_p.L141fs|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	496											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GAAGATGGAGAGGGGCTGCTG	0.701													-	17600531	A	-	17600531	7	5	272	1	0	1	0	1	0	0	0	0	3208	304	11	0	253	0	CECR6	22	17600531	Frame_Shift_Del	DEL	A	TCGA-HU-A4GQ-01A-11D-A25D-08	319623	17600531	33704035	2088	137199											
CECR2	27443	broad.mit.edu	37	chr22	18022564	18022564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagcctgcacacccccGtttacctggcccttttccgc	6	21	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:18022564G>A	uc010gqw.1	+	15	2792	c.2666G>A	c.(2665-2667)CGT>CAT	p.R889H	CECR2_uc010gqv.1_Missense_Mutation_p.R748H|CECR2_uc002zml.2_Missense_Mutation_p.R748H	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	931					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GCACACCCCCGTTTACCTGGC	0.632													A	18022564	G	A	18022564	3	1	272	1	0	0	0	0	1	0	0	0	3206	1145	40	1	2726	1	CECR2	22	18022564	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	422033	18022564	33282002	2089	137200											
MICAL3	57553	broad.mit.edu	37	chr22	18371904	18371904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccatttctttgcctgtcAtgatgggagaaatgcccaat	10	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:18371904A>G	uc002zng.3	-	13	2140	c.1787T>C	c.(1786-1788)ATG>ACG	p.M596T	MICAL3_uc011agl.1_Missense_Mutation_p.M596T|MICAL3_uc002znh.2_Missense_Mutation_p.M596T|MICAL3_uc002znj.1_Missense_Mutation_p.M296T|MICAL3_uc002znk.1_Missense_Mutation_p.M596T|MICAL3_uc002znl.1_Missense_Mutation_p.M229T|MICAL3_uc002znm.2_Missense_Mutation_p.M97T|MICAL3_uc010grf.2_Missense_Mutation_p.M596T	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	596	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTGCCTGTCATGATGGGAGA	0.463											OREG0026284	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	18371904	A	G	18371904	3	3	272	1	0	0	0	0	1	0	0	0	9571	217	8	3	5038	3	MICAL3	22	18371904	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	349340	18371904	32932662	2090	137201											
GSC2	2928	broad.mit.edu	37	chr22	19137315	19137315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcggtggcgcctcgtgCgccgctgcgaacccgggccg	18	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19137315C>T	uc011ags.1	-	2	374	c.374G>A	c.(373-375)CGC>CAC	p.R125H		NM_005315	NP_005306	O15499	GSC2_HUMAN	goosecoid homeobox 2	125					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Colorectal(54;0.0993)					GCGCCTCGTGCGCCGCTGCGA	0.716													T	19137315	C	T	19137315	3	4	272	1	0	0	0	0	1	0	0	0	6815	768	27	1	250	1	GSC2	22	19137315	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	765411	19137315	32167251	2091	137202											
HIRA	7290	broad.mit.edu	37	chr22	19396041	19396041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaaagcatcttgggaAtattttcatccttctcgtca	7	10	5	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19396041A>T	uc002zpf.1	-	3	396	c.176T>A	c.(175-177)ATT>AAT	p.I59N	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.I59N|HIRA_uc010gro.1_Missense_Mutation_p.I15N|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	59					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			ovary(1)	1	Colorectal(54;0.0993)					CATCTTGGGAATATTTTCATC	0.488													T	19396041	A	T	19396041	3	4	272	1	0	0	0	0	1	0	0	0	7120	101	4	5	2969	5	HIRA	22	19396041	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	258726	19396041	31908525	2092	137203											
CLDN5	7122	broad.mit.edu	37	chr22	19511314	19511314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccagctcgtacttctgCgacacgggcacagacgggtc	13	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19511314C>T	uc002zpu.2	-	2	935	c.720G>A	c.(718-720)TCG>TCA	p.S240S	CLDN5_uc010grr.2_Silent_p.S240S	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	155	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CGTACTTCTGCGACACGGGCA	0.657													T	19511314	C	T	19511314	2	4	272	1	0	0	0	0	0	0	0	1	3488	755	27	1		1	CLDN5	22	19511314	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	115273	19511314	31793252	2093	137204											
CLDN5	7122	broad.mit.edu	37	chr22	19511395	19511395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgagcgccagcagcccGcaaaacaggtagagcacgcc	13	15	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19511395G>A	uc002zpu.2	-	2	854	c.639C>T	c.(637-639)TGC>TGT	p.C213C	CLDN5_uc010grr.2_Silent_p.C213C	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	128	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CCAGCAGCCCGCAAAACAGGT	0.682													A	19511395	G	A	19511395	2	1	272	1	0	0	0	0	0	0	0	1	3488	1079	38	1		1	CLDN5	22	19511395	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	81	19511395	31793171	2094	137205											
ARVCF	421	broad.mit.edu	37	chr22	19961234	19961234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcgacggcgcgcaccaccTtgtcggtctcagactgcagc	13	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19961234T>G	uc002zqz.2	-	13	2442	c.2171A>C	c.(2170-2172)AAG>ACG	p.K724T	ARVCF_uc002zqy.2_Missense_Mutation_p.K240T	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	724	ARM 8.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GCGCACCACCTTGTCGGTCTC	0.672													G	19961234	T	G	19961234	3	3	272	1	0	0	0	0	1	0	0	0	1003	1609	56	5	745	5	ARVCF	22	19961234	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	449839	19961234	31343332	2095	137206											
DGCR8	54487	broad.mit.edu	37	chr22	20079466	20079466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcgtgtcctcaaggtcCgccctgtctataatttcttt	8	12	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20079466C>T	uc002zri.2	+	7	1929	c.1579C>T	c.(1579-1581)CGC>TGC	p.R527C	DGCR8_uc010grz.2_Missense_Mutation_p.R527C|DGCR8_uc002zrj.2_Missense_Mutation_p.R170C	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	527	Necessary for interaction with DROSHA.|Necessary for heme-binding and pri-miRNA processing.|DRBM 1.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					CCTCAAGGTCCGCCCTGTCTA	0.478													T	20079466	C	T	20079466	3	4	272	1	0	0	0	0	1	0	0	0	4464	652	23	1	1601	1	DGCR8	22	20079466	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	118232	20079466	31225100	2096	137207											
ZDHHC8	29801	broad.mit.edu	37	chr22	20127357	20127357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggcgtcgtggccttcGgcctggtctacgtgctgaac	16	11	1	1	rs146759935		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20127357G>A	uc002zrq.2	+	4	605	c.499G>A	c.(499-501)GGC>AGC	p.G167S	ZDHHC8_uc002zrr.1_Missense_Mutation_p.G167S|ZDHHC8_uc010gsa.2_Intron	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	167	Helical; (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CGTGGCCTTCGGCCTGGTCTA	0.607													A	20127357	G	A	20127357	3	1	272	1	0	0	0	0	1	0	0	0	17618	1116	39	1	513	1	ZDHHC8	22	20127357	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	47891	20127357	31177209	2097	137208											
ZDHHC8	29801	broad.mit.edu	37	chr22	20131072	20131072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgagccgtgcaccgcGgacgtcgtcctcctccctgc	11	19	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20131072G>A	uc002zrq.2	+	10	2025	c.1919G>A	c.(1918-1920)CGG>CAG	p.R640Q	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R640Q|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R446Q	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	640	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CGTGCACCGCGGACGTCGTCC	0.711													A	20131072	G	A	20131072	3	1	272	1	0	0	0	0	1	0	0	0	17618	1116	39	1	1957	1	ZDHHC8	22	20131072	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3715	20131072	31173494	2098	137209											
ZNF74	7625	broad.mit.edu	37	chr22	20760633	20760633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccctccaccagaggaCgcacacgggcgagaagccct	10	18	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20760633C>T	uc010gsm.2	+	6	1522	c.1310C>T	c.(1309-1311)ACG>ATG	p.T437M	ZNF74_uc002zsg.2_Missense_Mutation_p.T366M|ZNF74_uc002zsh.2_Missense_Mutation_p.T437M|ZNF74_uc002zsi.2_Missense_Mutation_p.T366M|ZNF74_uc010gsn.2_Missense_Mutation_p.T366M	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	437	C2H2-type 7.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			CACCAGAGGACGCACACGGGC	0.652													T	20760633	C	T	20760633	3	4	272	1	0	0	0	0	1	0	0	0	18124	536	19	1	1328	1	ZNF74	22	20760633	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	629561	20760633	30543933	2099	137210											
KLHL22	84861	broad.mit.edu	37	chr22	20812182	20812182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcattgtggtagtcacgGcccgccacagcgtagatgta	13	10	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20812182G>A	uc002zsl.1	-	5	1327	c.1218C>T	c.(1216-1218)GGC>GGT	p.G406G	KLHL22_uc011ahr.1_Silent_p.G263G|KLHL22_uc002zsm.1_Silent_p.G406G	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	406	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			GGTAGTCACGGCCCGCCACAG	0.612													A	20812182	G	A	20812182	2	1	272	1	0	0	0	0	0	0	0	1	8377	1190	42	2		2	KLHL22	22	20812182	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	51549	20812182	30492384	2100	137211											
LZTR1	8216	broad.mit.edu	37	chr22	21348009	21348009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggctgtgggagagccGccagttctgcgacgtggagt	19	10	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:21348009G>A	uc002zto.2	+	12	1422	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	LZTR1_uc002ztn.2_Missense_Mutation_p.R399H|LZTR1_uc011ahy.1_Missense_Mutation_p.R421H|LZTR1_uc010gsr.1_Missense_Mutation_p.R311H|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	440	Kelch 6.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			TGGGAGAGCCGCCAGTTCTGC	0.622													A	21348009	G	A	21348009	3	1	272	1	0	0	0	0	1	0	0	0	9137	1087	38	1	1365	1	LZTR1	22	21348009	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	535827	21348009	29956557	2101	137212											
LZTR1	8216	broad.mit.edu	37	chr22	21349285	21349285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagcagcagccgccccctCgcactcccttggaccagcca	10	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:21349285C>T	uc002zto.2	+	16	2015	c.1912C>T	c.(1912-1914)CGC>TGC	p.R638C	LZTR1_uc002ztn.2_Missense_Mutation_p.R597C|LZTR1_uc011ahy.1_Missense_Mutation_p.R619C|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	638					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			GCCGCCCCCTCGCACTCCCTT	0.612													T	21349285	C	T	21349285	3	4	272	1	0	0	0	0	1	0	0	0	9137	884	31	1	1974	1	LZTR1	22	21349285	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1276	21349285	29955281	2102	137213											
PPM1F	9647	broad.mit.edu	37	chr22	22285542	22285542	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgttctggtctgtgtggcTccatcagcttcaccacctgt	10	14	4	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:22285542T>G	uc002zvp.1	-	6	983	c.869A>C	c.(868-870)GAG>GCG	p.E290A	PPM1F_uc011aik.1_Missense_Mutation_p.E186A|PPM1F_uc002zvq.2_Missense_Mutation_p.E290A	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	290					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TCTGTGTGGCTCCATCAGCTT	0.627													G	22285542	T	G	22285542	3	3	272	1	0	0	0	0	1	0	0	0	12339	1551	54	5	507	5	PPM1F	22	22285542	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	936257	22285542	29019024	2103	137214											
RAB36	9609	broad.mit.edu	37	chr22	23494678	23494678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggtggtggtggttggCgatctctacgtggggaagac	17	7	1	1	rs114023206	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:23494678C>T	uc002zwv.1	+	4	430	c.390C>T	c.(388-390)GGC>GGT	p.G130G	RAB36_uc010gtw.1_Intron	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	130	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TGGTGGTTGGCGATCTCTACG	0.582													T	23494678	C	T	23494678	2	4	272	1	0	0	0	0	0	0	0	1	12926	755	27	1		1	RAB36	22	23494678	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1209136	23494678	27809888	2104	137215											
RAB36	9609	broad.mit.edu	37	chr22	23495284	23495284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggactttgaaattgagCgctttgagattgctgggatt	15	4	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:23495284C>T	uc002zwv.1	+	5	530	c.490C>T	c.(490-492)CGC>TGC	p.R164C	RAB36_uc010gtw.1_Missense_Mutation_p.R142C	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	164					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TGAAATTGAGCGCTTTGAGAT	0.507													T	23495284	C	T	23495284	3	4	272	1	0	0	0	0	1	0	0	0	12926	768	27	1	508	1	RAB36	22	23495284	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	606	23495284	27809282	2105	137216											
SMARCB1	6598	broad.mit.edu	37	chr22	24176339	24176339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccaggcggatgaggcGtcttgccaacacggccccgg	13	15	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:24176339G>A	uc002zyb.2	+	9	1337	c.1130G>A	c.(1129-1131)CGT>CAT	p.R377H	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R368H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R386H	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	377					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.R377H(4)|p.?(2)|p.R377fs*10(1)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGGATGAGGCGTCTTGCCAAC	0.647			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				A	24176339	G	A	24176339	3	1	272	1	0	0	0	0	1	0	0	0	14774	1145	40	1	1164	1	SMARCB1	22	24176339	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	681055	24176339	27128227	2106	137217											
CABIN1	23523	broad.mit.edu	37	chr22	24487549	24487549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttacagatggagggccggCgcgacagcatgctagagaca	14	10	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:24487549C>T	uc002zzi.1	+	24	3665	c.3538C>T	c.(3538-3540)CGC>TGC	p.R1180C	CABIN1_uc002zzj.1_Missense_Mutation_p.R1130C|CABIN1_uc002zzl.1_Missense_Mutation_p.R1180C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1180					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.D1181fs*19(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAGGGCCGGCGCGACAGCAT	0.572													T	24487549	C	T	24487549	3	4	272	1	0	0	0	0	1	0	0	0	2528	768	27	1	3628	1	CABIN1	22	24487549	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	311210	24487549	26817017	2107	137218											
CYTSA	23384	broad.mit.edu	37	chr22	24720240	24720240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctaagaaacaaattgaagAtttgaatatgacgttagaaa	8	3	0	6			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:24720240A>G	uc002zzw.2	+	6	2298	c.1991A>G	c.(1990-1992)GAT>GGT	p.D664G	CYTSA_uc002zzv.3_Missense_Mutation_p.D664G|CYTSA_uc011ajq.1_Missense_Mutation_p.D664G	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	664	Potential.				cell cycle|cell division						0						CAAATTGAAGATTTGAATATG	0.338													G	24720240	A	G	24720240	3	3	272	1	0	0	0	0	1	0	0	0	4209	333	12	3	2005	3	CYTSA	22	24720240	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	232691	24720240	26584326	2108	137219											
MN1	4330	broad.mit.edu	37	chr22	28194245	28194245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctggggggcgagttcaCgcctggaccgctgtgcggcg	19	13	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:28194245C>T	uc003adj.2	-	1	3242	c.2287G>A	c.(2287-2289)GTG>ATG	p.V763M		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	763							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGCGAGTTCACGCCTGGACCG	0.756			T	ETV6	AML|meningioma								T	28194245	C	T	28194245	3	4	272	1	0	0	0	0	1	0	0	0	9673	536	19	1	1683	1	MN1	22	28194245	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	3474005	28194245	23110321	2109	137220											
MN1	4330	broad.mit.edu	37	chr22	28195048	28195048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcggtgtgaactcgccgGgtaggcctgggtaggcggaa	19	9	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:28195048G>A	uc003adj.2	-	1	2439	c.1484C>T	c.(1483-1485)CCC>CTC	p.P495L		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	495							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GAACTCGCCGGGTAGGCCTGG	0.632			T	ETV6	AML|meningioma								A	28195048	G	A	28195048	3	1	272	1	0	0	0	0	1	0	0	0	9673	1232	43	4	2486	4	MN1	22	28195048	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	803	28195048	23109518	2110	137221											
KREMEN1	83999	broad.mit.edu	37	chr22	29533564	29533564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttccacgggaggagccGcccacctctgtccttcaacg	10	18	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:29533564G>A	uc011akm.1	+	6	879	c.866G>A	c.(865-867)CGC>CAC	p.R289H	KREMEN1_uc003ael.2_Missense_Mutation_p.R289H|KREMEN1_uc011akn.1_Missense_Mutation_p.R172H	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	287	Extracellular (Potential).|CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						GGGAGGAGCCGCCCACCTCTG	0.542													A	29533564	G	A	29533564	3	1	272	1	0	0	0	0	1	0	0	0	8442	1087	38	1	888	1	KREMEN1	22	29533564	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1338516	29533564	21771002	2111	137222											
CABP7	164633	broad.mit.edu	37	chr22	30116482	30116482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgcccaacctgctgtcGgagcagcgcccggtggacat	13	15	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:30116482G>A	uc003agl.2	+	1	139	c.69G>A	c.(67-69)TCG>TCA	p.S23S		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	calcium binding protein 7	23	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			ACCTGCTGTCGGAGCAGCGCC	0.612													A	30116482	G	A	30116482	2	1	272	1	0	0	0	0	0	0	0	1	2535	1103	39	1		1	CABP7	22	30116482	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	582918	30116482	21188084	2112	137223											
MTMR3	8897	broad.mit.edu	37	chr22	30405050	30405050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttatggggatggcaaaCattcattctattcggaggag	13	5	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:30405050C>T	uc003agv.3	+	12	1381	c.1053C>T	c.(1051-1053)AAC>AAT	p.N351N	MTMR3_uc003agu.3_Silent_p.N351N|MTMR3_uc003agw.3_Silent_p.N351N	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	351	Myotubularin phosphatase.|Substrate binding (By similarity).				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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGATGGCAAACATTCATTCTA	0.438													T	30405050	C	T	30405050	2	4	272	1	0	0	0	0	0	0	0	1	9945	477	17	4		4	MTMR3	22	30405050	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	288568	30405050	20899516	2113	137224											
INPP5J	27124	broad.mit.edu	37	chr22	31521988	31521988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctggaagagcgacccCggcttccggtgagggggccc	15	15	0	2	rs141054135	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:31521988C>T	uc003aju.3	+	2	1355	c.1263C>T	c.(1261-1263)CCC>CCT	p.P421P	INPP5J_uc010gwf.2_Silent_p.P421P|INPP5J_uc003ajv.3_Silent_p.P54P|INPP5J_uc003ajs.3_Silent_p.P54P|INPP5J_uc011alk.1_Silent_p.P354P|INPP5J_uc010gwg.2_Intron|INPP5J_uc003ajw.2_Intron|INPP5J_uc003ajt.3_Intron|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	421						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			skin(1)	1						AGAGCGACCCCGGCTTCCGGT	0.607													T	31521988	C	T	31521988	2	4	272	1	0	0	0	0	0	0	0	1	7759	667	23	1		1	INPP5J	22	31521988	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1116938	31521988	19782578	2114	137225											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859098	31859098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgctcaccaaagacacGcttactatctccaaactctc	3	16	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:31859098G>A	uc003akz.1	-	6	771	c.607C>T	c.(607-609)CGT>TGT	p.R203C	EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R203C|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	203	Arg-rich.|Nuclear localization signal.					nucleus	protein binding|protein transporter activity			ovary(1)	1						CCAAAGACACGCTTACTATCT	0.403													A	31859098	G	A	31859098	3	1	272	1	0	0	0	0	1	0	0	0	5035	1087	38	1	2409	1	EIF4ENIF1	22	31859098	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	337110	31859098	19445468	2115	137226											
DEPDC5	9681	broad.mit.edu	37	chr22	32275660	32275660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccctggctgcctagcCggccagcctcctatgcaagt	10	17	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:32275660C>T	uc003als.2	+	37	4004	c.3862C>T	c.(3862-3864)CGG>TGG	p.R1288W	DEPDC5_uc011als.1_Missense_Mutation_p.R1219W|DEPDC5_uc011alu.1_Missense_Mutation_p.R1319W|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1310W|DEPDC5_uc003alu.2_Missense_Mutation_p.R737W|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R586W|DEPDC5_uc011alx.1_Missense_Mutation_p.R136W|DEPDC5_uc010gwk.2_Missense_Mutation_p.R314W|DEPDC5_uc011aly.1_Missense_Mutation_p.R136W	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1288					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GCTGCCTAGCCGGCCAGCCTC	0.577													T	32275660	C	T	32275660	3	4	272	1	0	0	0	0	1	0	0	0	4442	643	23	1	4092	1	DEPDC5	22	32275660	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	416562	32275660	19028906	2116	137227											
FBXO7	25793	broad.mit.edu	37	chr22	32894316	32894316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagaccaacacttccctaTgttggagacccaatcagttc	6	13	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:32894316T>C	uc003amq.2	+	9	1651	c.1368T>C	c.(1366-1368)TAT>TAC	p.Y456Y	FBXO7_uc003amr.2_Silent_p.Y342Y|FBXO7_uc003ams.2_Silent_p.Y300Y|FBXO7_uc003amt.2_Silent_p.Y377Y|FBXO7_uc003amu.2_Silent_p.Y342Y|FBXO7_uc003amv.2_Silent_p.Y155Y	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	456					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CACTTCCCTATGTTGGAGACC	0.542													C	32894316	T	C	32894316	2	2	272	1	0	0	0	0	0	0	0	1	5760	1471	51	3		3	FBXO7	22	32894316	Silent	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	618656	32894316	18410250	2117	137228											
LARGE	9215	broad.mit.edu	37	chr22	33712123	33712123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtgctgtctgctgcagGctcatactcgtagtgcagga	13	11	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:33712123G>A	uc003and.3	-	12	1978	c.1399C>T	c.(1399-1401)CCT>TCT	p.P467S	LARGE_uc011amd.1_Missense_Mutation_p.P266S|LARGE_uc003ane.3_Missense_Mutation_p.P467S|LARGE_uc010gwp.2_Missense_Mutation_p.P415S|LARGE_uc011ame.1_Missense_Mutation_p.P399S|LARGE_uc011amf.1_Missense_Mutation_p.P467S|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	467	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				TCTGCTGCAGGCTCATACTCG	0.617													A	33712123	G	A	33712123	3	1	272	1	0	0	0	0	1	0	0	0	8627	1203	42	2	891	2	LARGE	22	33712123	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	817807	33712123	17592443	2118	137229											
TOM1	10043	broad.mit.edu	37	chr22	35730403	35730403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagtttgacatgtttgcGctgacacggggcagctcact	13	9	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:35730403G>A	uc003ann.2	+	11	1235	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A	TOM1_uc011ami.1_Silent_p.A337A|TOM1_uc011amj.1_Silent_p.A213A|TOM1_uc003ans.2_Silent_p.A213A|TOM1_uc011amk.1_Silent_p.A332A|TOM1_uc003anp.2_Silent_p.A370A|TOM1_uc011aml.1_Silent_p.A325A|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.A364A|TOM1_uc003anr.2_Silent_p.A213A	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	370					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						ACATGTTTGCGCTGACACGGG	0.622													A	35730403	G	A	35730403	2	1	272	1	0	0	0	0	0	0	0	1	16348	1074	38	1		1	TOM1	22	35730403	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	2018280	35730403	15574163	2119	137230											
HMOX1	3162	broad.mit.edu	37	chr22	35782832	35782832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttctggtacgggccccGctggcaggaggtcatcccct	14	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:35782832G>A	uc003ant.1	+	3	379	c.299G>A	c.(298-300)CGC>CAC	p.R100H		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	100					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	TACGGGCCCCGCTGGCAGGAG	0.667													A	35782832	G	A	35782832	3	1	272	1	0	0	0	0	1	0	0	0	7243	1087	38	1	309	1	HMOX1	22	35782832	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	52429	35782832	15521734	2120	137231											
APOL4	80832	broad.mit.edu	37	chr22	36587367	36587367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctcagtgtctcaacaAcatttataggtacatatcgc	7	9	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:36587367A>G	uc003aox.2	-	6	1037	c.812T>C	c.(811-813)GTT>GCT	p.V271A	APOL4_uc003aow.2_Missense_Mutation_p.V268A|APOL4_uc010gww.2_Missense_Mutation_p.V113A	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	apolipoprotein L4 isoform 2 precursor	271					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding				0						TGTCTCAACAACATTTATAGG	0.498													G	36587367	A	G	36587367	3	3	272	1	0	0	0	0	1	0	0	0	808	41	2	3	247	3	APOL4	22	36587367	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	804535	36587367	14717199	2121	137232											
MYH9	4627	broad.mit.edu	37	chr22	36714268	36714268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctgctctttagtctgcGccttctggacgtaatcccgt	8	13	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:36714268G>A	uc003apg.2	-	11	1442	c.1211C>T	c.(1210-1212)GCG>GTG	p.A404V	MYH9_uc003aph.1_Missense_Mutation_p.A268V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	404	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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTTAGTCTGCGCCTTCTGGAC	0.582			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36714268	G	A	36714268	3	1	272	1	0	0	0	0	1	0	0	0	10042	1087	38	1	4795	1	MYH9	22	36714268	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	126901	36714268	14590298	2122	137233											
PVALB	5816	broad.mit.edu	37	chr22	37209766	37209766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttagcagacaggtcTctggcatctggggagaagcc	13	9	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:37209766T>G	uc010gwz.2	-	3	258	c.228A>C	c.(226-228)AGA>AGC	p.R76S	PVALB_uc003apx.2_Missense_Mutation_p.R76S	NM_002854	NP_002845	P20472	PRVA_HUMAN	parvalbumin	76							calcium ion binding			skin(1)	1						CAGACAGGTCTCTGGCATCTG	0.562													G	37209766	T	G	37209766	3	3	272	1	0	0	0	0	1	0	0	0	12836	1548	54	5	112	5	PVALB	22	37209766	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	495498	37209766	14094800	2123	137234											
RAC2	5880	broad.mit.edu	37	chr22	37622790	37622790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggatggcctcgtcgaacaCggttttcaggcctctctggg	13	13	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:37622790C>T	uc003arc.2	-	6	619	c.502G>A	c.(502-504)GTG>ATG	p.V168M		NM_002872	NP_002863	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2	168					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(2)|central_nervous_system(1)|skin(1)	4						TCGTCGAACACGGTTTTCAGG	0.637													T	37622790	C	T	37622790	3	4	272	1	0	0	0	0	1	0	0	0	12975	536	19	1	80	1	RAC2	22	37622790	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	413024	37622790	13681776	2124	137235											
ELFN2	114794	broad.mit.edu	37	chr22	37769277	37769277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgctcccagatcttgtgCgtgctctcggatgagtactc	11	12	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:37769277C>T	uc003asq.3	-	3	3084	c.2298G>A	c.(2296-2298)ACG>ACA	p.T766T		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	766	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AGATCTTGTGCGTGCTCTCGG	0.632													T	37769277	C	T	37769277	2	4	272	1	0	0	0	0	0	0	0	1	5058	755	27	1		1	ELFN2	22	37769277	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	146487	37769277	13535289	2125	137236											
SOX10	6663	broad.mit.edu	37	chr22	38379399	38379399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtcttgctgagctcagcGttgtgcaggtgcgggtactg	16	9	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:38379399G>A	uc003aun.1	-	2	671	c.393C>T	c.(391-393)AAC>AAT	p.N131N	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.N131N|SOX10_uc010gxj.2_Silent_p.N131N|uc003aup.2_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	131	HMG box.					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					TGAGCTCAGCGTTGTGCAGGT	0.667													A	38379399	G	A	38379399	2	1	272	1	0	0	0	0	0	0	0	1	14941	1136	40	1		1	SOX10	22	38379399	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	610122	38379399	12925167	2126	137237											
APOBEC3F	200316	broad.mit.edu	37	chr22	39441441	39441441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgtctcagaatttgcaTactgctgggaaaactttgtg	9	8	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:39441441T>C	uc003aww.2	+	4	753	c.460T>C	c.(460-462)TAC>CAC	p.Y154H	APOBEC3F_uc011aog.1_Missense_Mutation_p.Y154H	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding				0	Melanoma(58;0.04)					AGAATTTGCATACTGCTGGGA	0.532													C	39441441	T	C	39441441	3	2	272	1	0	0	0	0	1	0	0	0	793	1406	49	3	613	3	APOBEC3F	22	39441441	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1062042	39441441	11863125	2127	137238											
CACNA1I	8911	broad.mit.edu	37	chr22	40080308	40080308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctttcccagcagcAcccccaagtcccttctcccc	3	22	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40080308A>G	uc003ayc.2	+	36	5832	c.5832A>G	c.(5830-5832)GCA>GCG	p.A1944A	CACNA1I_uc003ayd.2_Silent_p.A1909A|CACNA1I_uc003aye.2_Silent_p.A1859A|CACNA1I_uc003ayf.2_Silent_p.A1824A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1944	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCCCAGCAGCACCCCCAAGTC	0.632													G	40080308	A	G	40080308	2	3	272	1	0	0	0	0	0	0	0	1	2546	173	6	3		3	CACNA1I	22	40080308	Silent	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	638867	40080308	11224258	2128	137239											
FAM83F	113828	broad.mit.edu	37	chr22	40417817	40417817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggggggaggccgcccccGccaggcgcttcagcagcagg	17	17	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40417817G>A	uc003ayk.1	+	4	1397	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	435										breast(1)	1						GGCCGCCCCCGCCAGGCGCTT	0.662													A	40417817	G	A	40417817	3	1	272	1	0	0	0	0	1	0	0	0	5638	1087	38	1	1317	1	FAM83F	22	40417817	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	337509	40417817	10886749	2129	137240											
SGSM3	27352	broad.mit.edu	37	chr22	40803530	40803530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggactttgagcggcaCgacgacgacgagctgggctt	15	11	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40803530C>T	uc003ayu.1	+	13	1691	c.1482C>T	c.(1480-1482)CAC>CAT	p.H494H	SGSM3_uc011aos.1_Silent_p.H427H|SGSM3_uc011aot.1_Silent_p.H431H|SGSM3_uc010gyd.1_Silent_p.H565H	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	494	SH3.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						TTGAGCGGCACGACGACGACG	0.652													T	40803530	C	T	40803530	2	4	272	1	0	0	0	0	0	0	0	1	14224	535	19	1		1	SGSM3	22	40803530	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	385713	40803530	10501036	2130	137241											
MKL1	57591	broad.mit.edu	37	chr22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgataggctcgaaggcGctcaatcagctcagttttgg	12	9	4	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40815316G>A	uc003ayv.1	-	9	1333	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	MKL1_uc003ayw.1_Missense_Mutation_p.R376C|MKL1_uc010gye.1_Missense_Mutation_p.R376C|MKL1_uc010gyf.1_Missense_Mutation_p.R326C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	376	SAP.				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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCTCGAAGGCGCTCAATCAGC	0.607			T	RBM15	acute megakaryocytic leukemia								A	40815316	G	A	40815316	3	1	272	1	0	0	0	0	1	0	0	0	9601	1087	38	1	1685	1	MKL1	22	40815316	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	11786	40815316	10489250	2131	137242											
TCF20	6942	broad.mit.edu	37	chr22	42606614	42606614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgcagaaccttctggTatctgtgggggctgaggggg	16	9	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:42606614T>C	uc003bcj.1	-	1	4832	c.4698A>G	c.(4696-4698)ATA>ATG	p.I1566M	TCF20_uc003bck.1_Missense_Mutation_p.I1566M|TCF20_uc003bnt.2_Missense_Mutation_p.I1566M	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						AACCTTCTGGTATCTGTGGGG	0.532													C	42606614	T	C	42606614	3	2	272	1	0	0	0	0	1	0	0	0	15687	1628	57	3	1222	3	TCF20	22	42606614	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1791298	42606614	8697952	2132	137243											
SCUBE1	80274	broad.mit.edu	37	chr22	43610139	43610139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaggcagaccaagcccGtcgctgctggggcacggtgt	15	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:43610139G>A	uc003bdt.1	-	16	2098	c.2010C>T	c.(2008-2010)GAC>GAT	p.D670D		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	670					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			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GACCAAGCCCGTCGCTGCTGG	0.652													A	43610139	G	A	43610139	2	1	272	1	0	0	0	0	0	0	0	1	13944	1136	40	1		1	SCUBE1	22	43610139	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1003525	43610139	7694427	2133	137244											
SAMM50	25813	broad.mit.edu	37	chr22	44386201	44386201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcatccgctggtcgtacGgggccgggattgtcctcagg	16	11	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:44386201G>A	uc003bej.2	+	14	1476	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	SAMM50_uc011aqd.1_Missense_Mutation_p.G217R|SAMM50_uc003bek.2_Missense_Mutation_p.G232R	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	427					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTGGTCGTACGGGGCCGGGAT	0.562													A	44386201	G	A	44386201	3	1	272	1	0	0	0	0	1	0	0	0	13829	1116	39	1	1333	1	SAMM50	22	44386201	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	776062	44386201	6918365	2134	137245											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45130968	45130968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggagacgctggtccagaAggtggtgtcgccatacctgg	15	11	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:45130968A>G	uc003bfd.2	+	7	889	c.617A>G	c.(616-618)AAG>AGG	p.K206R	PRR5_uc003bew.1_Missense_Mutation_p.K197R|PRR5_uc003bex.1_Missense_Mutation_p.K111R|PRR5_uc010gzt.1_Missense_Mutation_p.K229R|PRR5_uc010gzu.1_Missense_Mutation_p.K170R|PRR5_uc003bey.1_Missense_Mutation_p.K197R|PRR5_uc003bez.1_Missense_Mutation_p.K111R|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.K99R|PRR5_uc003bfb.1_Missense_Mutation_p.K206R|PRR5_uc003bfe.1_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.K105R	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						CTGGTCCAGAAGGTGGTGTCG	0.667													G	45130968	A	G	45130968	3	3	272	1	0	0	0	0	1	0	0	0	12601	72	3	3		3	PRR5-ARHGAP8	22	45130968	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	744767	45130968	6173598	2135	137246											
FAM118A	55007	broad.mit.edu	37	chr22	45726516	45726516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagagggcacatgaagtaCggcgtcctccacattcacgg	12	12	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:45726516C>T	uc003bfz.3	+	6	1171	c.555C>T	c.(553-555)TAC>TAT	p.Y185Y	FAM118A_uc003bga.3_Silent_p.Y185Y|FAM118A_uc011aqr.1_Silent_p.Y3Y	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	185						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ACATGAAGTACGGCGTCCTCC	0.502													T	45726516	C	T	45726516	2	4	272	1	0	0	0	0	0	0	0	1	5411	547	19	1		1	FAM118A	22	45726516	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	595548	45726516	5578050	2136	137247											
WNT7B	7477	broad.mit.edu	37	chr22	46319046	46319046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcaggaaggtgggctgcCgcagacggctggcccgcacc	17	14	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:46319046C>T	uc003bgo.2	-	4	1114	c.740G>A	c.(739-741)CGG>CAG	p.R247Q	WNT7B_uc010haa.2_Missense_Mutation_p.R251Q	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	247					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGGCTGCCGCAGACGGCT	0.622													T	46319046	C	T	46319046	3	4	272	1	0	0	0	0	1	0	0	0	17392	652	23	1	313	1	WNT7B	22	46319046	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	592530	46319046	4985520	2137	137248											
CELSR1	9620	broad.mit.edu	37	chr22	46786376	46786376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgctgcagtgtcggacCgcatttcctggggaaggaga	14	12	0	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:46786376C>T	uc003bhw.1	-	17	6258	c.6258G>A	c.(6256-6258)GCG>GCA	p.A2086A	CELSR1_uc011arc.1_Silent_p.A407A	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2086	Extracellular (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		AGTGTCGGACCGCATTTCCTG	0.532											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46786376	C	T	46786376	2	4	272	1	0	0	0	0	0	0	0	1	3221	639	23	1		1	CELSR1	22	46786376	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	467330	46786376	4518190	2138	137249											
TTLL8	164714	broad.mit.edu	37	chr22	50471777	50471777	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatgagcagcggcgtctcGatgtacttctggaccaccca	11	13	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50471777G>A	uc011ark.1	-	10	1137	c.1137C>T	c.(1135-1137)ATC>ATT	p.I379I		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		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)		GCGGCGTCTCGATGTACTTCT	0.557													A	50471777	G	A	50471777	2	1	272	1	0	0	0	0	0	0	0	1	16730	1048	37	1		1	TTLL8	22	50471777	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	3685401	50471777	832789	2139	137250											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682250	50682250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaagggccccgaagagCgagacccgggtgtctctctc	13	14	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50682250C>T	uc003bkb.1	-	1	1151	c.639G>A	c.(637-639)TCG>TCA	p.S213S	TUBGCP6_uc010har.1_Silent_p.S213S|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.S213S	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	213					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		CCCCGAAGAGCGAGACCCGGG	0.622													T	50682250	C	T	50682250	2	4	272	1	0	0	0	0	0	0	0	1	16767	755	27	1		1	TUBGCP6	22	50682250	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	210473	50682250	622316	2140	137251											
PLXNB2	23654	broad.mit.edu	37	chr22	50718980	50718980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagctccaggaagagCgtgtgcatgatgtccgtgta	14	9	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50718980C>T	uc003bkv.3	-	25	4219	c.4113G>A	c.(4111-4113)ACG>ACA	p.T1371T	PLXNB2_uc003bkt.1_Silent_p.T163T|PLXNB2_uc003bku.1_Silent_p.T356T	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1371	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		CCAGGAAGAGCGTGTGCATGA	0.527													T	50718980	C	T	50718980	2	4	272	1	0	0	0	0	0	0	0	1	12124	755	27	1		1	PLXNB2	22	50718980	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	36730	50718980	585586	2141	137252											
SAPS2	9701	broad.mit.edu	37	chr22	50873504	50873504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgcacatcagcgaggtcAtccgaggtgagcccccaacc	11	15	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50873504A>G	uc003blb.1	+	14	1932	c.1510A>G	c.(1510-1512)ATC>GTC	p.I504V	SAPS2_uc003bky.1_Missense_Mutation_p.I504V|SAPS2_uc003bkz.1_Missense_Mutation_p.I504V|SAPS2_uc003blc.2_Missense_Mutation_p.I504V|SAPS2_uc003bla.1_Missense_Mutation_p.I505V|SAPS2_uc003bld.1_Missense_Mutation_p.I63V	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	504						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		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;0.222)		CAGCGAGGTCATCCGAGGTGA	0.667													G	50873504	A	G	50873504	3	3	272	1	0	0	0	0	1	0	0	0	13837	217	8	3	1552	3	SAPS2	22	50873504	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	154524	50873504	431062	2142	137253											
NCAPH2	29781	broad.mit.edu	37	chr22	50960987	50960987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcagaccccagggaagCcgctgaccttggtaggtggg	18	10	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50960987C>T	uc003blr.3	+	16	1486	c.1364C>T	c.(1363-1365)GCC>GTC	p.A455V	NCAPH2_uc003blv.2_Missense_Mutation_p.A455V|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.A456V|NCAPH2_uc003bly.3_RNA	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	455					chromosome condensation	chromosome|nucleus				ovary(1)|skin(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;0.212)		CCCAGGGAAGCCGCTGACCTT	0.647													T	50960987	C	T	50960987	3	4	272	1	0	0	0	0	1	0	0	0	10210	739	26	2	1468	2	NCAPH2	22	50960987	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	87483	50960987	343579	2143	137254											
ASMTL	8623	broad.mit.edu	37	chrX	1540581	1540581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgccttcttccccaaCgccctgtggtgctggtttgt	9	15	2	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:1540581C>T	uc004cpx.1	-	9	1326	c.1215G>A	c.(1213-1215)GCG>GCA	p.A405A	ASMTL_uc011mhe.1_Silent_p.A329A|ASMTL_uc004cpy.1_Silent_p.A389A|ASMTL_uc011mhf.1_Silent_p.A347A	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	405	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		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)				TCTTCCCCAACGCCCTGTGGT	0.507													T	1540581	C	T	1540581	2	4	272	1	0	0	0	0	0	0	0	1	1046	523	19	1		1	ASMTL	23	1540581	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08		1540581	153729979	2144	137255											
ZBED1	9189	broad.mit.edu	37	chrX	2408016	2408016	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacctcatagagcactcGcgtgatggtctccgccgtgt	12	12	2	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:2408016G>A	uc004cqg.2	-	2	946	c.745C>T	c.(745-747)CGA>TGA	p.R249*	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Nonsense_Mutation_p.R249*	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	249						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				TAGAGCACTCGCGTGATGGTC	0.632													A	2408016	G	A	2408016	4	1	272	1	0	0	0	0	0	1	0	0	17514	1095	38	1	1343	1	ZBED1	23	2408016	Nonsense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	867435	2408016	152862544	2145	137256											
ARSE	415	broad.mit.edu	37	chrX	2856188	2856188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccacggtggggaacacgtCcatcagactcgtgggctcgc	14	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:2856188C>T	uc004crc.3	-	9	1487	c.1237G>A	c.(1237-1239)GAC>AAC	p.D413N	ARSE_uc011mhi.1_Missense_Mutation_p.D359N|ARSE_uc011mhh.1_Missense_Mutation_p.D438N	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	413					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		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)				GGGAACACGTCCATCAGACTC	0.647													T	2856188	C	T	2856188	3	4	272	1	0	0	0	0	1	0	0	0	990	855	30	4	544	4	ARSE	23	2856188	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	448172	2856188	152414372	2146	137257											
ARHGAP6	395	broad.mit.edu	37	chrX	11682375	11682375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacctcggatttccacaCgacgtaggggtgcccgcgac	11	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:11682375C>T	uc004cup.1	-	1	1447	c.574G>A	c.(574-576)GTG>ATG	p.V192M	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.V192M	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	192					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			urinary_tract(1)|lung(1)	2						GATTTCCACACGACGTAGGGG	0.617													T	11682375	C	T	11682375	3	4	272	1	0	0	0	0	1	0	0	0	887	536	19	1	2524	1	ARHGAP6	23	11682375	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	8826187	11682375	143588185	2147	137258											
CDKL5	6792	broad.mit.edu	37	chrX	18646647	18646647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagccaggcctctggcGggagcagcaacatccggcag	14	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:18646647G>A	uc004cym.2	+	18	2906	c.2653G>A	c.(2653-2655)GGG>AGG	p.G885R	CDKL5_uc004cyn.2_Missense_Mutation_p.G885R	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	885					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GGCCTCTGGCGGGAGCAGCAA	0.597													A	18646647	G	A	18646647	3	1	272	1	0	0	0	0	1	0	0	0	3157	1116	39	1	2719	1	CDKL5	23	18646647	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6964272	18646647	136623913	2148	137259											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-													tgttcccaaagaggatgacaGgggggagggcgccgctgagg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:19560215delG	uc004czm.2	-	16	2036	c.1720delC	c.(1720-1722)CTGfs	p.L574fs	SH3KBP1_uc011mje.1_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.1_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.2_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.2_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	574					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				0						GAGGATGACAGGGGGGAGGGC	0.647													-	19560215	G	-	19560215	7	5	272	1	0	1	0	1	0	0	0	0	14255	991	35	0	289	0	SH3KBP1	23	19560215	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	913568	19560215	135710345	2149	137260											
DMD	1756	broad.mit.edu	37	chrX	31196876	31196876	+	Frame_Shift_Del	DEL	T	T	-													accttttggttcgaaatttgTtttttagtaccttggcaaag							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:31196876delT	uc004dda.1	-	70	10377	c.10133delA	c.(10132-10134)AACfs	p.N3378fs	DMD_uc004dcq.1_Frame_Shift_Del_p.N649fs|DMD_uc004dcr.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcs.1_Frame_Shift_Del_p.N918fs|DMD_uc004dct.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcu.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcv.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcw.2_Frame_Shift_Del_p.N2034fs|DMD_uc004dcx.2_Frame_Shift_Del_p.N2037fs|DMD_uc004dcz.2_Frame_Shift_Del_p.N3255fs|DMD_uc004dcy.1_Frame_Shift_Del_p.N3374fs|DMD_uc004ddb.1_Frame_Shift_Del_p.N3370fs|DMD_uc004dcm.1_Frame_Shift_Del_p.N310fs|DMD_uc004dcn.1_Frame_Shift_Del_p.N310fs|DMD_uc004dco.1_Frame_Shift_Del_p.N310fs|DMD_uc004dcp.1_Frame_Shift_Del_p.N310fs|DMD_uc011mkb.1_Frame_Shift_Del_p.N310fs|DMD_uc010ngm.2_Frame_Shift_Del_p.N310fs	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3378	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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TCGAAATTTGTTTTTTAGTAC	0.428													-	31196876	T	-	31196876	7	5	272	1	0	1	0	1	0	0	0	0	4580	1725	60	0	1054	0	DMD	23	31196876	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	11636661	31196876	124073684	2150	137261											
DMD	1756	broad.mit.edu	37	chrX	32360294	32360294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgcttgctgagctggatctGagttggctccactgccattg	13	11	1	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:32360294G>T	uc004dda.1	-	41	6089	c.5845C>A	c.(5845-5847)CAG>AAG	p.Q1949K	DMD_uc004dcw.2_Missense_Mutation_p.Q605K|DMD_uc004dcx.2_Missense_Mutation_p.Q608K|DMD_uc004dcz.2_Missense_Mutation_p.Q1826K|DMD_uc004dcy.1_Missense_Mutation_p.Q1945K|DMD_uc004ddb.1_Missense_Mutation_p.Q1941K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1949	Spectrin 13.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				AGCTGGATCTGAGTTGGCTCC	0.507													T	32360294	G	T	32360294	3	4	272	1	0	0	0	0	1	0	0	0	4580	1299	45	5	5516	5	DMD	23	32360294	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1163418	32360294	122910266	2151	137262											
DMD	1756	broad.mit.edu	37	chrX	32361293	32361293	+	Frame_Shift_Del	DEL	T	T	-													ggctcaggtaggctggctaaTtttttttcaatgtcatccaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:32361292_32361292AT>A	uc004dda.1	-	39	5942	c.5698_5698AT>T	c.(5698-5700)ttafs	p.L1900fs	DMD_uc004dcw.2_Frame_Shift_Del_p.L556fs|DMD_uc004dcx.2_Frame_Shift_Del_p.L559fs|DMD_uc004dcz.2_Frame_Shift_Del_p.L1777fs|DMD_uc004dcy.1_Frame_Shift_Del_p.L1896fs|DMD_uc004ddb.1_Frame_Shift_Del_p.L1892fs|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1900	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)				AGGCTGGCTAATTTTTTTTCA	0.353													-	32361293	T	-	32361293	7	5	272	1	0	1	0	1	0	0	0	0	4580	1490	52	0	5668	0	DMD	23	32361293	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	999	32361293	122909267	2152	137263											
FAM47C	442444	broad.mit.edu	37	chrX	37028708	37028708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcccatctccgcccagagcCtcccaagcctcgggtttcca	8	19	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:37028708C>A	uc004ddl.1	+	1	2239	c.2225C>A	c.(2224-2226)CCT>CAT	p.P742H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	742										ovary(3)	3						CGCCCAGAGCCTCCCAAGCCT	0.632													A	37028708	C	A	37028708	3	1	272	1	0	0	0	0	1	0	0	0	5571	681	24	5	2227	5	FAM47C	23	37028708	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	4667415	37028708	118241852	2153	137264											
BCOR	54880	broad.mit.edu	37	chrX	39914621	39914621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgaactttgtcatacCtgttaagaacttttccataa	4	8	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:39914621C>A	uc004den.3	-	12	5033	c.4741G>T	c.(4741-4743)GAT>TAT	p.D1581Y	BCOR_uc004dep.3_Missense_Mutation_p.D1547Y|BCOR_uc004deo.3_Missense_Mutation_p.D1529Y|BCOR_uc010nhb.2_Missense_Mutation_p.D289Y|BCOR_uc004dem.3_Missense_Mutation_p.D1547Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1581					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						TTTGTCATACCTGTTAAGAAC	0.378													A	39914621	C	A	39914621	3	1	272	1	0	0	0	0	1	0	0	0	1386	695	24	5	542	5	BCOR	23	39914621	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2885913	39914621	115355939	2154	137265											
USP9X	8239	broad.mit.edu	37	chrX	41045867	41045867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcttagaaatgtgtcagTtcgtcttgctcagcagatat	9	8	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:41045867T>C	uc004dfb.2	+	24	4289	c.3656T>C	c.(3655-3657)GTT>GCT	p.V1219A	USP9X_uc004dfc.2_Missense_Mutation_p.V1219A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1219					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			lung(3)|breast(2)|ovary(1)	6						AATGTGTCAGTTCGTCTTGCT	0.413													C	41045867	T	C	41045867	3	2	272	1	0	0	0	0	1	0	0	0	17087	1725	60	3	3746	3	USP9X	23	41045867	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	1131246	41045867	114224693	2155	137266											
USP9X	8239	broad.mit.edu	37	chrX	41082472	41082472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcctttttgttgtaggtGtggcagagaagacacagctt	11	8	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:41082472G>A	uc004dfb.2	+	39	7201	c.6568G>A	c.(6568-6570)GTG>ATG	p.V2190M	USP9X_uc004dfc.2_Missense_Mutation_p.V2190M	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2190					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			lung(3)|breast(2)|ovary(1)	6						TGTTGTAGGTGTGGCAGAGAA	0.398													A	41082472	G	A	41082472	3	1	272	1	0	0	0	0	1	0	0	0	17087	1377	48	4	6718	4	USP9X	23	41082472	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	36605	41082472	114188088	2156	137267											
KDM6A	7403	broad.mit.edu	37	chrX	44966693	44966693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagcaatgtcagacatTgagggaagctctcattgctg	11	8	3	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:44966693T>C	uc004dge.3	+	27	4292	c.3917T>C	c.(3916-3918)TTG>TCG	p.L1306S	KDM6A_uc011mkz.1_Missense_Mutation_p.L1358S|KDM6A_uc011mla.1_Missense_Mutation_p.L1261S|KDM6A_uc011mlb.1_Missense_Mutation_p.L1313S|KDM6A_uc011mlc.1_Missense_Mutation_p.L1010S|KDM6A_uc011mld.1_Missense_Mutation_p.L945S	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1306					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TGTCAGACATTGAGGGAAGCT	0.373			D|N|F|S		renal|oesophageal SCC|MM								C	44966693	T	C	44966693	3	2	272	1	0	0	0	0	1	0	0	0	8137	1821	63	3	4023	3	KDM6A	23	44966693	Missense_Mutation	SNP	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3884221	44966693	110303867	2157	137268											
CHST7	56548	broad.mit.edu	37	chrX	46434069	46434069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccacccgtggcgataCgcgccctggaggccgagtgc	15	16	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:46434069C>T	uc004dgt.2	+	1	878	c.703C>T	c.(703-705)CGC>TGC	p.R235C		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	235	Lumenal (Potential).				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)	3						CGTGGCGATACGCGCCCTGGA	0.711													T	46434069	C	T	46434069	3	4	272	1	0	0	0	0	1	0	0	0	3409	536	19	1	705	1	CHST7	23	46434069	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1467376	46434069	108836491	2158	137269											
CHST7	56548	broad.mit.edu	37	chrX	46434730	46434730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgcgctccagccatgcGtctgctcgcctaccctcgca	9	20	1	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:46434730G>A	uc004dgt.2	+	1	1539	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	455	Lumenal (Potential).				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)	3						CCAGCCATGCGTCTGCTCGCC	0.741													A	46434730	G	A	46434730	3	1	272	1	0	0	0	0	1	0	0	0	3409	1145	40	1	1366	1	CHST7	23	46434730	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	661	46434730	108835830	2159	137270											
SSX3	10214	broad.mit.edu	37	chrX	48209552	48209552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgctggcttcttgggCatgatctttataatgtgaag	10	8	3	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:48209552C>T	uc004djd.1	-	6	430	c.336G>A	c.(334-336)ATG>ATA	p.M112I	SSX3_uc004dje.2_Missense_Mutation_p.M112I	NM_021014	NP_066294	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3 isoform a	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						GCTTCTTGGGCATGATCTTTA	0.333													T	48209552	C	T	48209552	3	4	272	1	0	0	0	0	1	0	0	0	15204	710	25	2	289	2	SSX3	23	48209552	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1774822	48209552	107061008	2160	137271											
WDR13	64743	broad.mit.edu	37	chrX	48458100	48458100	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaccagcacgtggatgAggcaggtgagccagtgggta	16	7	0	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:48458100A>C	uc004dkh.1	+	5	665	c.518A>C	c.(517-519)GAG>GCG	p.E173A	WDR13_uc010nif.1_Missense_Mutation_p.E51A|WDR13_uc004dki.1_Missense_Mutation_p.E81A|WDR13_uc004dkj.1_Missense_Mutation_p.E173A|WDR13_uc004dkk.1_Missense_Mutation_p.E81A|WDR13_uc004dkl.3_Missense_Mutation_p.E81A|WDR13_uc011mme.1_Missense_Mutation_p.E51A	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	173	WD 1.					cytoplasm|nucleus				ovary(2)	2						CACGTGGATGAGGCAGGTGAG	0.567													C	48458100	A	C	48458100	3	2	272	1	0	0	0	0	1	0	0	0	17272	304	11	5	532	5	WDR13	23	48458100	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	248548	48458100	106812460	2161	137272											
HDAC6	10013	broad.mit.edu	37	chrX	48681771	48681771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggaggctgtaggaggaGctacactggcccagaccacc	14	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:48681771G>A	uc011mmi.1	+	25	3057	c.2962G>A	c.(2962-2964)GCT>ACT	p.A988T	HDAC6_uc004dks.1_Missense_Mutation_p.A988T|HDAC6_uc010nig.1_Missense_Mutation_p.A836T|HDAC6_uc004dkt.1_Missense_Mutation_p.A988T|HDAC6_uc011mmk.1_Missense_Mutation_p.A969T|HDAC6_uc004dkv.1_Missense_Mutation_p.A636T|HDAC6_uc004dkw.1_Missense_Mutation_p.A636T|HDAC6_uc004dkx.1_Missense_Mutation_p.A351T	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	988					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			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	TGTAGGAGGAGCTACACTGGC	0.632													A	48681771	G	A	48681771	3	1	272	1	0	0	0	0	1	0	0	0	7011	971	34	2	3056	2	HDAC6	23	48681771	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	223671	48681771	106588789	2162	137273											
CCNB3	85417	broad.mit.edu	37	chrX	50054470	50054470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgataaacctgtctcaCcacaggccaagggaacacca	7	14	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:50054470C>A	uc004dox.3	+	6	3599	c.3301C>A	c.(3301-3303)CCA>ACA	p.P1101T	CCNB3_uc004doy.2_Missense_Mutation_p.P1101T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1101					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					ACCTGTCTCACCACAGGCCAA	0.473													A	50054470	C	A	50054470	3	1	272	1	0	0	0	0	1	0	0	0	2914	507	18	5	3315	5	CCNB3	23	50054470	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1372699	50054470	105216090	2163	137274											
FAM123B	139285	broad.mit.edu	37	chrX	63410309	63410309	+	Frame_Shift_Del	DEL	G	G	-													caggccaatcataggcccctGggggttcagtatagagggaa							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:63410309delG	uc004dvo.2	-	2	3131	c.2858delC	c.(2857-2859)CCAfs	p.P953fs		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	953	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						ATAGGCCCCTGGGGGTTCAGT	0.597													-	63410309	G	-	63410309	7	5	272	1	0	1	0	1	0	0	0	0	5423	1348	47	0	553	0	FAM123B	23	63410309	Frame_Shift_Del	DEL	G	TCGA-HU-A4GQ-01A-11D-A25D-08	13355839	63410309	91860251	2164	137275											
SLC7A3	84889	broad.mit.edu	37	chrX	70149524	70149524	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagccagtggtgaaggcccaGagttcacccacagtgacata	11	12	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:70149524G>T	uc004dyn.2	-	2	482	c.324C>A	c.(322-324)CTC>CTA	p.L108L	SLC7A3_uc004dyo.2_Silent_p.L108L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	108	Helical; Name=3; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAAGGCCCAGAGTTCACCCA	0.557													T	70149524	G	T	70149524	2	4	272	1	0	0	0	0	0	0	0	1	14698	929	33	5		5	SLC7A3	23	70149524	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	6739215	70149524	85121036	2165	137276											
MED12	9968	broad.mit.edu	37	chrX	70356270	70356270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaggagaggagcagcagcGgttgctgctctaccacacac	13	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:70356270G>A	uc004dyy.2	+	37	5364	c.5165G>A	c.(5164-5166)CGG>CAG	p.R1722Q	MED12_uc011mpq.1_Missense_Mutation_p.R1722Q|MED12_uc004dyz.2_Missense_Mutation_p.R1722Q|MED12_uc004dza.2_Missense_Mutation_p.R1569Q|MED12_uc010nla.2_Missense_Mutation_p.R348Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1722	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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GAGCAGCAGCGGTTGCTGCTC	0.632													A	70356270	G	A	70356270	3	1	272	1	0	0	0	0	1	0	0	0	9428	1116	39	1	5311	1	MED12	23	70356270	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	206746	70356270	84914290	2166	137277											
ATP7A	538	broad.mit.edu	37	chrX	77301978	77301978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactactgtctgataaaCgctccctaaacagtgttgtt	6	11	2	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:77301978C>T	uc004ecx.3	+	23	4574	c.4414C>T	c.(4414-4416)CGC>TGC	p.R1472C		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1472	Cytoplasmic (Potential).				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|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				0						GTCTGATAAACGCTCCCTAAA	0.438													T	77301978	C	T	77301978	3	4	272	1	0	0	0	0	1	0	0	0	1190	536	19	1	4500	1	ATP7A	23	77301978	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	6945708	77301978	77968582	2167	137278											
BRWD3	254065	broad.mit.edu	37	chrX	79965051	79965051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtcctgcgtaaagaaCgcccacagctaggctcataa	10	12	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:79965051C>T	uc004edt.2	-	21	2614	c.2351G>A	c.(2350-2352)CGT>CAT	p.R784H	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.R380H|BRWD3_uc004edp.2_Missense_Mutation_p.R613H|BRWD3_uc004edq.2_Missense_Mutation_p.R380H|BRWD3_uc010nmj.1_Missense_Mutation_p.R380H|BRWD3_uc004edr.2_Missense_Mutation_p.R454H|BRWD3_uc004eds.2_Missense_Mutation_p.R380H|BRWD3_uc004edu.2_Missense_Mutation_p.R454H|BRWD3_uc004edv.2_Missense_Mutation_p.R380H|BRWD3_uc004edw.2_Missense_Mutation_p.R380H|BRWD3_uc004edx.2_Missense_Mutation_p.R380H|BRWD3_uc004edy.2_Missense_Mutation_p.R380H|BRWD3_uc004edz.2_Missense_Mutation_p.R454H|BRWD3_uc004eea.2_Missense_Mutation_p.R454H|BRWD3_uc004eeb.2_Missense_Mutation_p.R380H	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	784										ovary(4)	4						GCGTAAAGAACGCCCACAGCT	0.378													T	79965051	C	T	79965051	3	4	272	1	0	0	0	0	1	0	0	0	1526	536	19	1	3141	1	BRWD3	23	79965051	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	2663073	79965051	75305509	2168	137279											
RPS6KA6	27330	broad.mit.edu	37	chrX	83403063	83403063	+	Frame_Shift_Del	DEL	T	T	-													tttctaccttttaaagaggcTttttttaacaccttcattgc							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:83403063delT	uc004eej.1	-	4	404	c.327delA	c.(325-327)AAAfs	p.K109fs	RPS6KA6_uc011mqt.1_Frame_Shift_Del_p.K109fs|RPS6KA6_uc011mqu.1_Frame_Shift_Del_p.K6fs|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	109	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			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTAAAGAGGCTTTTTTTAACA	0.303													-	83403063	T	-	83403063	7	5	272	1	0	1	0	1	0	0	0	0	13655	1606	56	0	1986	0	RPS6KA6	23	83403063	Frame_Shift_Del	DEL	T	TCGA-HU-A4GQ-01A-11D-A25D-08	3438012	83403063	71867497	2169	137280											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667062	100667062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccgatgaagtgatgcGcttcttctctgattgcaaga	10	10	3	4			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:100667062G>A	uc004ehm.2	+	2	256	c.86G>A	c.(85-87)CGC>CAC	p.R29H	HNRNPH2_uc004ehn.2_Missense_Mutation_p.R29H	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	29	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GAAGTGATGCGCTTCTTCTCT	0.512													A	100667062	G	A	100667062	3	1	272	1	0	0	0	0	1	0	0	0	7267	1087	38	1	88	1	HNRNPH2	23	100667062	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	17263999	100667062	54603498	2170	137281											
ARMCX5	64860	broad.mit.edu	37	chrX	101858527	101858527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctttaacaagaatgaGtcaaaggccaatattcttaa	6	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:101858527G>A	uc004ejg.2	+	6	2339	c.1458G>A	c.(1456-1458)GAG>GAA	p.E486E	ARMCX5_uc004ejh.2_Silent_p.E486E	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	486	ARM 3.						binding			ovary(1)	1						ACAAGAATGAGTCAAAGGCCA	0.308													A	101858527	G	A	101858527	2	1	272	1	0	0	0	0	0	0	0	1	962	1020	36	4		4	ARMCX5	23	101858527	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	1191465	101858527	53412033	2171	137282											
TSC22D3	1831	broad.mit.edu	37	chrX	107018464	107018464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatgctgttgagcttgtcGgtattgaggttctcaaagac	11	6	1	3			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:107018464G>A	uc004enh.2	-	1	554	c.186C>T	c.(184-186)ACC>ACT	p.T62T	TSC22D3_uc004eni.2_Silent_p.T62T|TSC22D3_uc004enj.2_Silent_p.T62T	NM_198057	NP_932174	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 1	Error:Variant_position_missing_in_Q99576_after_alignment							sequence-specific DNA binding transcription factor activity				0						TGAGCTTGTCGGTATTGAGGT	0.582													A	107018464	G	A	107018464	2	1	272	1	0	0	0	0	0	0	0	1	16606	1103	39	1		1	TSC22D3	23	107018464	Silent	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5159937	107018464	48252096	2172	137283											
IRS4	8471	broad.mit.edu	37	chrX	107978313	107978313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaccgctctccttgacCtgcgccctctgggcaggtgc	11	16	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:107978313C>A	uc004eoc.2	-	1	1295	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	421						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TCTCCTTGACCTGCGCCCTCT	0.637													A	107978313	C	A	107978313	3	1	272	1	0	0	0	0	1	0	0	0	7842	681	24	5	2515	5	IRS4	23	107978313	Missense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	959849	107978313	47292247	2173	137284											
IRS4	8471	broad.mit.edu	37	chrX	107978481	107978481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcctcccggctcgagcGgcaccaagcccaggtgcctc	12	19	0	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:107978481G>A	uc004eoc.2	-	1	1127	c.1094C>T	c.(1093-1095)CCG>CTG	p.P365L		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	365						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CGGCTCGAGCGGCACCAAGCC	0.637													A	107978481	G	A	107978481	3	1	272	1	0	0	0	0	1	0	0	0	7842	1116	39	1	2683	1	IRS4	23	107978481	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	168	107978481	47292079	2174	137285											
ALG13	79868	broad.mit.edu	37	chrX	111000877	111000877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagatgcagcagcagcttcAtgtagagaattatccagtct	9	9	2	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:111000877A>G	uc011msy.1	+	26	3069	c.3035A>G	c.(3034-3036)CAT>CGT	p.H1012R	ALG13_uc011msx.1_Missense_Mutation_p.H829R|ALG13_uc011msz.1_Missense_Mutation_p.H934R|ALG13_uc011mta.1_Missense_Mutation_p.H829R|ALG13_uc011mtb.1_Missense_Mutation_p.H829R			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	1012					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						CAGCAGCTTCATGTAGAGAAT	0.458													G	111000877	A	G	111000877	3	3	272	1	0	0	0	0	1	0	0	0	515	217	8	3	3279	3	ALG13	23	111000877	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	3022396	111000877	44269683	2175	137286											
ELF4	2000	broad.mit.edu	37	chrX	129200998	129200998	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caggagctccctcagggtctCttcaggaaccagcagcccct	10	16	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:129200998C>A	uc004evd.3	-	9	2075	c.1690G>T	c.(1690-1692)GAG>TAG	p.E564*	ELF4_uc004eve.3_Nonsense_Mutation_p.E564*	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	564					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			ovary(1)	1						CTCAGGGTCTCTTCAGGAACC	0.607			T	ERG	AML								A	129200998	C	A	129200998	4	1	272	1	0	0	0	0	0	1	0	0	5056	922	32	5	305	5	ELF4	23	129200998	Nonsense_Mutation	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	18200121	129200998	26069562	2176	137287											
ZNF449	203523	broad.mit.edu	37	chrX	134494268	134494269	+	Frame_Shift_Ins	INS	-	-	C													ttagaaaatcaatgggaaacINSccccccagaggatttacaga							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:134494267_134494268A>AC	uc004eys.3	+	4	988_989	c.823_824A>AC	c.(823-825)accfs	p.T275fs	ZNF449_uc004eyt.3_Frame_Shift_Ins_p.T155fs|ZNF449_uc004eyu.3_Frame_Shift_Ins_p.T81fs	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	275					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436													C	134494269	-	C	134494268	7	5	272	1	0	1	1	0	0	0	0	0	17917	507	18	0	838	0	ZNF449	23	134494268	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	5293270	134494268	20776292	2177	137288											
HTATSF1	27336	broad.mit.edu	37	chrX	135594074	135594075	+	Frame_Shift_Ins	INS	-	-	G													gtttgacgattctgatgagaINSgggggactttgggtggtttt							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:135594074_135594075insG	uc004ezw.2	+	10	2592_2593	c.2170_2171insG	c.(2170-2172)AGGfs	p.R724fs	HTATSF1_uc004ezx.2_Frame_Shift_Ins_p.R724fs	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	724	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTCTGATGAGAGGGGGACTTTG	0.441													G	135594075	-	G	135594074	7	5	272	1	0	1	1	0	0	0	0	0	7433	295	11	0	2204	0	HTATSF1	23	135594074	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1099806	135594074	19676486	2178	137289	708	2									
HTATSF1	27336	broad.mit.edu	37	chrX	135594075	135594076	+	Frame_Shift_Ins	INS	-	-	G													tttgacgattctgatgagagINSggggactttgggtggttttg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:135594074_135594075A>AG	uc004ezw.3	+	9	2592_2593	c.2170_2171A>AG	c.(2170-2172)aggfs	p.R724fs	HTATSF1_uc004ezx.3_Frame_Shift_Ins_p.R724fs	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	724	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTCTGATGAGAGGGGGACTTTG	0.441													G	135594076	-	G	135594075	7	5	272	1	0	1	1	0	0	0	0	0	7433	1000	35	0	2205	0	HTATSF1	23	135594075	Frame_Shift_Ins	INS	-	TCGA-HU-A4GQ-01A-11D-A25D-08	1	135594075	19676485	2179	137290	708	2									
MAGEC2	51438	broad.mit.edu	37	chrX	141290965	141290965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttagtgaggagctccctaGgctccccatagacgaagtgc	11	12	0	2			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:141290965G>T	uc004fbu.1	-	3	1157	c.809C>A	c.(808-810)CCT>CAT	p.P270H		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	270	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTCCCTAGGCTCCCCATA	0.532										HNSCC(46;0.14)			T	141290965	G	T	141290965	3	4	272	1	0	0	0	0	1	0	0	0	9181	1000	35	5	316	5	MAGEC2	23	141290965	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	5696890	141290965	13979595	2180	137291											
GABRQ	55879	broad.mit.edu	37	chrX	151820208	151820208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccgaagagtcattgcccGctaccgctaccagcaagtgg	10	15	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:151820208G>A	uc004ffp.1	+	8	1141	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	374						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			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTGCCCGCTACCGCTAC	0.537													A	151820208	G	A	151820208	3	1	272	1	0	0	0	0	1	0	0	0	6175	1087	38	1	1151	1	GABRQ	23	151820208	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	10529243	151820208	3450352	2181	137292											
SLC6A8	6535	broad.mit.edu	37	chrX	152959879	152959879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggccttttgggagtgCgtggtggtggcctgggtgta	20	6	0	0	rs122453118		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:152959879C>T	uc004fib.3	+	10	1751	c.1473C>T	c.(1471-1473)TGC>TGT	p.C491C	SLC6A8_uc004fic.3_Silent_p.C481C|SLC6A8_uc011myx.1_Silent_p.C376C|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	491	Helical; (Potential).		C -> W (in XL-CDS).		creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TTTGGGAGTGCGTGGTGGTGG	0.662													T	152959879	C	T	152959879	2	4	272	1	0	0	0	0	0	0	0	1	14690	776	27	1		1	SLC6A8	23	152959879	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	1139671	152959879	2310681	2182	137293											
L1CAM	3897	broad.mit.edu	37	chrX	153133800	153133800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtctcgaccgtccccacGccaggtgatgctgggctgca	14	14	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:153133800G>A	uc004fjb.2	-	13	1768	c.1660C>T	c.(1660-1662)CGT>TGT	p.R554C	L1CAM_uc004fjc.2_Missense_Mutation_p.R554C|L1CAM_uc010nuo.2_Missense_Mutation_p.R549C|L1CAM_uc004fjd.1_Missense_Mutation_p.R368C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	554	Ig-like C2-type 6.|Extracellular (Potential).|Cell attachment site (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					CCGTCCCCACGCCAGGTGATG	0.612													A	153133800	G	A	153133800	3	1	272	1	0	0	0	0	1	0	0	0	8588	1087	38	1	2177	1	L1CAM	23	153133800	Missense_Mutation	SNP	G	TCGA-HU-A4GQ-01A-11D-A25D-08	173921	153133800	2136760	2183	137294											
ARHGAP4	393	broad.mit.edu	37	chrX	153178181	153178182	+	Frame_Shift_Del	DEL	AA	AA	-													aacttctccatgtctcccccAaagagtctctggttatactg							TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:153178181_153178182delAA	uc004fjk.1	-	12	1556_1557	c.1514_1515delTT	c.(1513-1515)TTTfs	p.F505fs	ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Frame_Shift_Del_p.F482fs|ARHGAP4_uc004fjl.1_Frame_Shift_Del_p.F545fs|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	505					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(1)	1	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)					TGTCTCCCCCAAAGAGTCTCTG	0.55													-	153178182	AA	-	153178181	7	5	272	1	0	1	0	1	0	0	0	0	885	127	5	0	1369	0	ARHGAP4	23	153178181	Frame_Shift_Del	DEL	AA	TCGA-HU-A4GQ-01A-11D-A25D-08	44381	153178181	2092379	2184	137295											
HCFC1	3054	broad.mit.edu	37	chrX	153219890	153219890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgtgggtctcgcatggCgggttggagcacaccctctg	15	12	3	0			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:153219890C>T	uc004fjp.2	-	17	4488	c.3960G>A	c.(3958-3960)CCG>CCA	p.P1320P		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1320	HCF repeat 6.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGCATGGCGGGTTGGAGC	0.672													T	153219890	C	T	153219890	2	4	272	1	0	0	0	0	0	0	0	1	6991	755	27	1		1	HCFC1	23	153219890	Silent	SNP	C	TCGA-HU-A4GQ-01A-11D-A25D-08	41709	153219890	2050670	2185	137296											
SPRY3	10251	broad.mit.edu	37	chrX	155004291	155004291	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgccaacagggctatgAtagcctccggcgaccaggct	12	13	1	1			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:155004291A>T	uc004fnq.1	+	2	1212	c.758A>T	c.(757-759)GAT>GTT	p.D253V	SPRY3_uc010nvl.1_Missense_Mutation_p.D154V	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	253	SPR.|Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	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)					CAGGGCTATGATAGCCTCCGG	0.602													T	155004291	A	T	155004291	3	4	272	1	0	0	0	0	1	0	0	0	15106	333	12	5	760	5	SPRY3	23	155004291	Missense_Mutation	SNP	A	TCGA-HU-A4GQ-01A-11D-A25D-08	1784401	155004291	266269	2186	137297											
AGRN	375790	broad.mit.edu	37	chr1	979279	979279	+	Frame_Shift_Del	DEL	C	C	-													gtgtgtccccggtgtgagcaCcccccgcccggccccgtgtg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:979278_979278AC>A	uc001ack.2	+	9	1924	c.1874_1874AC>A	c.(1873-1875)cacfs	p.H625fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	625	Kazal-like 7.				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)		CGGTGTGAGCACCCCCCGCCC	0.672													-	979279	C	-	979279	7	5	273	1	0	1	0	1	0	0	0	0	397	506	18	0	1913	0	AGRN	1	979279	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08		979279	248271342	1	137298											
TTLL10	254173	broad.mit.edu	37	chr1	1115538	1115538	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggggcagaaagagcctcTgccacacccggaccccctgg	14	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1115538T>C	uc001acy.2	+	6	475	c.324T>C	c.(322-324)TCT>TCC	p.S108S	uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.S108S|TTLL10_uc001acz.1_Silent_p.S35S	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	108					protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(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;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)		AAAGAGCCTCTGCCACACCCG	0.692													C	1115538	T	C	1115538	2	2	273	1	0	0	0	0	0	0	0	1	16720	1567	55	3		3	TTLL10	1	1115538	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	136259	1115538	248135083	2	137299											
VWA1	64856	broad.mit.edu	37	chr1	1372677	1372677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagatggcggctccagCgaccctgtgggcccccccat	13	16	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1372677C>T	uc001afs.2	+	2	664	c.444C>T	c.(442-444)AGC>AGT	p.S148S	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	148	VWFA.					basement membrane					0	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)		GCGGCTCCAGCGACCCTGTGG	0.642													T	1372677	C	T	1372677	2	4	273	1	0	0	0	0	0	0	0	1	17235	767	27	1		1	VWA1	1	1372677	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	257139	1372677	247877944	3	137300											
CDK11B	984	broad.mit.edu	37	chr1	1573143	1573143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctaacggtgacgatgttgGgatgctgggccttgaggatg	16	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1573143G>T	uc001agv.1	-	17	1556	c.1445C>A	c.(1444-1446)CCC>CAC	p.P482H	CDK11B_uc009vkj.2_Missense_Mutation_p.P139H|CDK11B_uc001ags.1_Missense_Mutation_p.P340H|CDK11B_uc001agt.1_Missense_Mutation_p.P265H|CDK11B_uc001aha.1_Missense_Mutation_p.P448H|CDK11B_uc001agw.1_Missense_Mutation_p.P437H|CDK11B_uc001agy.1_Missense_Mutation_p.P480H|CDK11B_uc001agx.1_Missense_Mutation_p.P471H|CDK11B_uc001agz.1_Missense_Mutation_p.P226H	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	495	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			skin(1)	1						GACGATGTTGGGATGCTGGGC	0.607													T	1573143	G	T	1573143	3	4	273	1	0	0	0	0	1	0	0	0	3127	1232	43	5	935	5	CDK11B	1	1573143	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	200466	1573143	247677478	4	137301											
CDK11B	984	broad.mit.edu	37	chr1	1575717	1575717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagtcgggcacatagtcgCcctctgtcagggcgctgctc	15	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1575717C>A	uc001agv.1	-	15	1283	c.1172G>T	c.(1171-1173)GGC>GTC	p.G391V	CDK11B_uc009vkj.2_Missense_Mutation_p.G48V|CDK11B_uc001ags.1_Missense_Mutation_p.G249V|CDK11B_uc001agt.1_Missense_Mutation_p.G174V|CDK11B_uc001aha.1_Missense_Mutation_p.G357V|CDK11B_uc001agw.1_Missense_Mutation_p.G346V|CDK11B_uc001agy.1_Missense_Mutation_p.G389V|CDK11B_uc001agx.1_Missense_Mutation_p.G380V|CDK11B_uc001agz.1_Missense_Mutation_p.G135V	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	404					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			skin(1)	1						CACATAGTCGCCCTCTGTCAG	0.657													A	1575717	C	A	1575717	3	1	273	1	0	0	0	0	1	0	0	0	3127	739	26	5	1216	5	CDK11B	1	1575717	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2574	1575717	247674904	5	137302											
CDK11A	728642	broad.mit.edu	37	chr1	1635978	1635978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagacaggaccccggggCgcggctgtacctggcaggaa	16	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1635978C>T	uc010nys.1	-	14	1653	c.1545G>A	c.(1543-1545)GCG>GCA	p.A515A	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Intron|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Intron|CDK11A_uc009vks.2_Intron			Q9UQ88	CD11A_HUMAN	SubName: Full=Cell division cycle 2-like 2 (PITSLRE proteins);	Error:Variant_position_missing_in_Q9UQ88_after_alignment					apoptosis|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			stomach(1)	1						GACCCCGGGGCGCGGCTGTAC	0.612													T	1635978	C	T	1635978	2	4	273	1	0	0	0	0	0	0	0	1	3126	783	27	1		1	CDK11A	1	1635978	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	60261	1635978	247614643	6	137303											
SLC35E2	9906	broad.mit.edu	37	chr1	1663938	1663938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcgccatggacaaggCgactcggtgcagggcctgcg	18	12	0	0	rs143259268		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1663938C>T	uc001aib.1	-	6	1173	c.757G>A	c.(757-759)GCC>ACC	p.A253T	SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|SLC35E2_uc001ahy.2_Intron|SLC35E2_uc001ahz.2_Intron|uc001aia.1_5'Flank	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	253						integral to membrane				pancreas(1)	1	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)|Lung SC(97;0.128)		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)		ATGGACAAGGCGACTCGGTGC	0.612													T	1663938	C	T	1663938	3	4	273	1	0	0	0	0	1	0	0	0	14585	768	27	1	1297	1	SLC35E2	1	1663938	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	27960	1663938	247586683	7	137304											
C1orf86	199990	broad.mit.edu	37	chr1	2125206	2125206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggggcagggacctggcGggggattccaggtgccctcc	18	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:2125206G>A	uc001aiy.2	-	3	368	c.342C>T	c.(340-342)CCC>CCT	p.P114P	C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Missense_Mutation_p.P110L	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN	hypothetical protein LOC199990 isoform 2	114											0	all_cancers(77;0.000134)|all_epithelial(69;4.45e-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;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGACCTGGCGGGGGATTCCA	0.726													A	2125206	G	A	2125206	2	1	273	1	0	0	0	0	0	0	0	1	2063	1116	39	1		1	C1orf86	1	2125206	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	461268	2125206	247125415	8	137305											
NPHP4	261734	broad.mit.edu	37	chr1	5951051	5951051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggcttcaggaacccAgggcccaccatgtacctcag	9	16	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:5951051A>G	uc001alq.1	-	17	2447	c.2181T>C	c.(2179-2181)CCT>CCC	p.P727P	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	727					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		TCAGGAACCCAGGGCCCACCA	0.577													G	5951051	A	G	5951051	2	3	273	1	0	0	0	0	0	0	0	1	10581	175	7	3		3	NPHP4	1	5951051	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3825845	5951051	243299570	9	137306											
ICMT	23463	broad.mit.edu	37	chr1	6294985	6294985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagactggctaaaacttagcAgcgtgccgcagccgaacaca	10	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:6294985A>G	uc001amk.2	-	2	318	c.245T>C	c.(244-246)CTG>CCG	p.L82P	ICMT_uc001aml.2_5'UTR|uc001amm.2_5'Flank	NM_012405	NP_036537	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	82	Helical; (Potential).				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|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;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|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;0.182)		AAAACTTAGCAGCGTGCCGCA	0.498													G	6294985	A	G	6294985	3	3	273	1	0	0	0	0	1	0	0	0	7485	188	7	3	625	3	ICMT	1	6294985	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	343934	6294985	242955636	10	137307											
DNAJC11	55735	broad.mit.edu	37	chr1	6704704	6704704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcttcctctcagctccGtactccaccaccgtcccaaa	5	18	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:6704704G>A	uc001aof.2	-	10	1117	c.1011C>T	c.(1009-1011)TAC>TAT	p.Y337Y	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.Y337Y|DNAJC11_uc010nzu.1_Silent_p.Y247Y	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	337					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGCTCCGTACTCCACCA	0.537													A	6704704	G	A	6704704	2	1	273	1	0	0	0	0	0	0	0	1	4630	1140	40	1		1	DNAJC11	1	6704704	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	409719	6704704	242545917	11	137308											
CAMTA1	23261	broad.mit.edu	37	chr1	7724522	7724522	+	Frame_Shift_Del	DEL	G	G	-													acagcagcctgagtgactctGggggcaccttcgtgatgccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:7724522delG	uc001aoi.2	+	9	2122	c.1915delG	c.(1915-1917)GGGfs	p.G639fs		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		GAGTGACTCTGGGGGCACCTT	0.647													-	7724522	G	-	7724522	7	5	273	1	0	1	0	1	0	0	0	0	2613	1348	47	0	1949	0	CAMTA1	1	7724522	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1019818	7724522	241526099	12	137309											
SLC2A7	155184	broad.mit.edu	37	chr1	9073610	9073610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcatcactatgttgaCgacgccagagcccaccgtta	10	12	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:9073610C>T	uc009vmo.1	-	8	988	c.988G>A	c.(988-990)GTC>ATC	p.V330I		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	330	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)		ACTATGTTGACGACGCCAGAG	0.572													T	9073610	C	T	9073610	3	4	273	1	0	0	0	0	1	0	0	0	14550	536	19	1	570	1	SLC2A7	1	9073610	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1349088	9073610	240177011	13	137310											
SLC2A7	155184	broad.mit.edu	37	chr1	9073627	9073627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgacgccagagcccaccGttacatattgggagtgagcg	13	11	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:9073627G>A	uc009vmo.1	-	8	971	c.971C>T	c.(970-972)ACG>ATG	p.T324M		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	324	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)		AGAGCCCACCGTTACATATTG	0.577													A	9073627	G	A	9073627	3	1	273	1	0	0	0	0	1	0	0	0	14550	1145	40	1	587	1	SLC2A7	1	9073627	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	17	9073627	240176994	14	137311											
TMEM201	199953	broad.mit.edu	37	chr1	9661455	9661455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccaccagacgggcgTcgtggcactgggcctactca	14	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:9661455T>C	uc001apz.2	+	5	911	c.899T>C	c.(898-900)GTC>GCC	p.V300A	TMEM201_uc001apy.2_Missense_Mutation_p.V300A	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	300	Helical; (Potential).					integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|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)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CAGACGGGCGTCGTGGCACTG	0.697													C	9661455	T	C	9661455	3	2	273	1	0	0	0	0	1	0	0	0	16123	1667	58	3	917	3	TMEM201	1	9661455	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	587828	9661455	239589166	15	137312											
UBE4B	10277	broad.mit.edu	37	chr1	10231304	10231304	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaaatacggctttgaaCcaaagaagctgttggaccaa	10	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:10231304C>G	uc001aqs.3	+	25	4155	c.3442C>G	c.(3442-3444)CCA>GCA	p.P1148A	UBE4B_uc001aqr.3_Missense_Mutation_p.P1019A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.P603A|UBE4B_uc001aqu.2_Missense_Mutation_p.P29A	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1148					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		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)		CGGCTTTGAACCAAAGAAGCT	0.488													G	10231304	C	G	10231304	3	3	273	1	0	0	0	0	1	0	0	0	16880	507	18	5	3540	5	UBE4B	1	10231304	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	569849	10231304	239019317	16	137313											
KIF1B	23095	broad.mit.edu	37	chr1	10355753	10355753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcggcgccaggacaTagtgctgagcggggctcaca	16	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:10355753T>C	uc001aqx.3	+	19	1908	c.1706T>C	c.(1705-1707)ATA>ACA	p.I569T	KIF1B_uc001aqv.3_Missense_Mutation_p.I523T|KIF1B_uc001aqw.3_Missense_Mutation_p.I523T|KIF1B_uc001aqy.2_Missense_Mutation_p.I543T|KIF1B_uc001aqz.2_Missense_Mutation_p.I569T|KIF1B_uc001ara.2_Missense_Mutation_p.I529T|KIF1B_uc001arb.2_Missense_Mutation_p.I555T	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	569	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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		CGCCAGGACATAGTGCTGAGC	0.512													C	10355753	T	C	10355753	3	2	273	1	0	0	0	0	1	0	0	0	8284	1406	49	3	1630	3	KIF1B	1	10355753	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	124449	10355753	238894868	17	137314											
PEX14	5195	broad.mit.edu	37	chr1	10690008	10690008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggagaagctgcggcgGcccgagggcgccagcaacga	18	12	0	1	rs139610784		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:10690008G>A	uc001arn.2	+	9	1119	c.1098G>A	c.(1096-1098)CGG>CGA	p.R366R	PEX14_uc009vmv.2_Silent_p.R302R|PEX14_uc010oam.1_Silent_p.R302R|PEX14_uc010oan.1_Silent_p.R323R|PEX14_uc009vmw.2_Silent_p.R302R	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	366					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(1)	1	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)		AGCTGCGGCGGCCCGAGGGCG	0.682													A	10690008	G	A	10690008	2	1	273	1	0	0	0	0	0	0	0	1	11742	1190	42	2		2	PEX14	1	10690008	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	334255	10690008	238560613	18	137315											
TARDBP	23435	broad.mit.edu	37	chr1	11076929	11076929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaatggatgagacagaTgcttcatcagcagtgaaagt	11	5	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:11076929T>C	uc001art.2	+	3	401	c.267T>C	c.(265-267)GAT>GAC	p.D89D	TARDBP_uc010oap.1_Intron	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	89					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			ovary(2)	2	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)		ATGAGACAGATGCTTCATCAG	0.378													C	11076929	T	C	11076929	2	2	273	1	0	0	0	0	0	0	0	1	15554	1461	51	3		3	TARDBP	1	11076929	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	386921	11076929	238173692	19	137316											
PTCHD2	57540	broad.mit.edu	37	chr1	11580781	11580781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatcttgtccctggtgttCgccagccggctccgccccgc	10	19	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:11580781C>T	uc001ash.3	+	10	2376	c.2238C>T	c.(2236-2238)TTC>TTT	p.F746F	PTCHD2_uc001asi.1_Silent_p.F746F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	746	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CCCTGGTGTTCGCCAGCCGGC	0.662													T	11580781	C	T	11580781	2	4	273	1	0	0	0	0	0	0	0	1	12733	883	31	1		1	PTCHD2	1	11580781	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	503852	11580781	237669840	20	137317											
PTCHD2	57540	broad.mit.edu	37	chr1	11591751	11591751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccgcgtgcagtggatctCcatggctttcgagtcggtga	16	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:11591751C>T	uc001ash.3	+	17	3497	c.3359C>T	c.(3358-3360)TCC>TTC	p.S1120F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1120	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CAGTGGATCTCCATGGCTTTC	0.627													T	11591751	C	T	11591751	3	4	273	1	0	0	0	0	1	0	0	0	12733	855	30	4	3421	4	PTCHD2	1	11591751	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	10970	11591751	237658870	21	137318											
PLOD1	5351	broad.mit.edu	37	chr1	12012687	12012687	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaaccttcaggcttcatCggttatgcccccaacctcag	6	17	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:12012687C>T	uc001atm.2	+	5	565	c.474C>T	c.(472-474)ATC>ATT	p.I158I	PLOD1_uc010obb.1_Silent_p.I205I	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	158					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			ovary(2)|breast(1)	3	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)	CAGGCTTCATCGGTTATGCCC	0.587													T	12012687	C	T	12012687	2	4	273	1	0	0	0	0	0	0	0	1	12101	874	31	1		1	PLOD1	1	12012687	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	420936	12012687	237237934	22	137319											
AADACL3	126767	broad.mit.edu	37	chr1	12785194	12785194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgattcctttttagttaccGcaagttacctaagcataagt	6	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:12785194G>A	uc009vnn.1	+	4	517	c.284G>A	c.(283-285)CGC>CAC	p.R95H	AADACL3_uc001aug.1_Missense_Mutation_p.R25H	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	95							hydrolase activity				0	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)		TTTAGTTACCGCAAGTTACCT	0.463													A	12785194	G	A	12785194	3	1	273	1	0	0	0	0	1	0	0	0	12	1087	38	1	302	1	AADACL3	1	12785194	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	772507	12785194	236465427	23	137320											
PDPN	10630	broad.mit.edu	37	chr1	13910569	13910569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcgttttgggaagcgCgtcgctctgggtcctggcag	15	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:13910569C>T	uc001avd.2	+	1	318	c.269C>T	c.(268-270)GCG>GTG	p.A90V	PDPN_uc001avc.2_Missense_Mutation_p.A90V|PDPN_uc009vob.2_5'Flank|PDPN_uc009voc.2_5'Flank|PDPN_uc001ave.2_5'Flank|PDPN_uc001avf.2_5'Flank	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	14					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTGGGAAGCGCGTCGCTCTGG	0.607													T	13910569	C	T	13910569	3	4	273	1	0	0	0	0	1	0	0	0	11688	768	27	1	271	1	PDPN	1	13910569	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1125375	13910569	235340052	24	137321											
EPHA2	1969	broad.mit.edu	37	chr1	16475133	16475133	+	Frame_Shift_Del	DEL	C	C	-													ggacggagagcagcgccacaCaggcaccgatatcctggaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:16475133delC	uc001aya.1	-	3	700	c.563delG	c.(562-564)TGTfs	p.C188fs	EPHA2_uc010oca.1_Frame_Shift_Del_p.C188fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	188	Extracellular (Potential).|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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	CAGCGCCACACAGGCACCGAT	0.642													-	16475133	C	-	16475133	7	5	273	1	0	1	0	1	0	0	0	0	5167	478	17	0	2427	0	EPHA2	1	16475133	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	2564564	16475133	232775488	25	137322											
ATP13A2	23400	broad.mit.edu	37	chr1	17318615	17318615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagcatctgggcgaagTcggtgggcactgccagggag	17	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:17318615T>C	uc001baa.2	-	19	2205	c.2015A>G	c.(2014-2016)GAC>GGC	p.D672G	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Missense_Mutation_p.D667G|ATP13A2_uc001bac.2_Missense_Mutation_p.D667G	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	672	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		CTGGGCGAAGTCGGTGGGCAC	0.657													C	17318615	T	C	17318615	3	2	273	1	0	0	0	0	1	0	0	0	1124	1667	58	3	1807	3	ATP13A2	1	17318615	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	843482	17318615	231932006	26	137323											
TAS1R2	80834	broad.mit.edu	37	chr1	19166440	19166440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaacagcaggctgttgcGgtagttggggttacaggaga	17	5	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19166440G>A	uc001bba.1	-	6	2174	c.2173C>T	c.(2173-2175)CGC>TGC	p.R725C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	725	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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)	AGGCTGTTGCGGTAGTTGGGG	0.567													A	19166440	G	A	19166440	3	1	273	1	0	0	0	0	1	0	0	0	15560	1116	39	1	350	1	TAS1R2	1	19166440	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1847825	19166440	230084181	27	137324											
KIAA0090	23065	broad.mit.edu	37	chr1	19549207	19549207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatataggactgctggaggAcctggggcagctgggggcgg	20	7	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19549207A>G	uc001bbo.2	-	20	2541	c.2498T>C	c.(2497-2499)GTC>GCC	p.V833A	KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Missense_Mutation_p.V832A|KIAA0090_uc001bbq.2_Missense_Mutation_p.V832A|KIAA0090_uc001bbr.2_Missense_Mutation_p.V811A	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	833	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CTGCTGGAGGACCTGGGGCAG	0.617													G	19549207	A	G	19549207	3	3	273	1	0	0	0	0	1	0	0	0	8153	275	10	3	499	3	KIAA0090	1	19549207	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	382767	19549207	229701414	28	137325											
KIAA0090	23065	broad.mit.edu	37	chr1	19557753	19557753	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccctctgaagacagtAccttgtattcatcatctatc	4	14	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19557753A>G	uc001bbo.2	-	16	1987	c.1944_splice	c.e16+1	p.K648_splice	KIAA0090_uc001bbp.2_Splice_Site_p.K647_splice|KIAA0090_uc001bbq.2_Splice_Site_p.K647_splice|KIAA0090_uc001bbr.2_Splice_Site_p.K626_splice	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor							integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TGAAGACAGTACCTTGTATTC	0.562													G	19557753	A	G	19557753	5	3	273	1	0	0	0	0	0	0	1	0	8153	405	14	3	1067	3	KIAA0090	1	19557753	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	8546	19557753	229692868	29	137326											
AKR7A3	22977	broad.mit.edu	37	chr1	19612726	19612726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtctcttccaccggggTgctgtggtctggcatatgca	13	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19612726T>C	uc001bbv.1	-	2	432	c.355A>G	c.(355-357)ACC>GCC	p.T119A		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	119					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCGGGGTGCTGTGGTCT	0.622													C	19612726	T	C	19612726	3	2	273	1	0	0	0	0	1	0	0	0	476	1696	59	3	664	3	AKR7A3	1	19612726	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	54973	19612726	229637895	30	137327											
AKR7A3	22977	broad.mit.edu	37	chr1	19612765	19612765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtagaagaggtccactcGgggacactgcagccgcttca	13	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19612765G>A	uc001bbv.1	-	2	393	c.316C>T	c.(316-318)CGA>TGA	p.R106*		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	106					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCCACTCGGGGACACTGC	0.592													A	19612765	G	A	19612765	4	1	273	1	0	0	0	0	0	1	0	0	476	1124	39	1	703	1	AKR7A3	1	19612765	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	39	19612765	229637856	31	137328											
AKR7A2	8574	broad.mit.edu	37	chr1	19638351	19638351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgcccagcccgagccCcaggccgcccaggatggtct	12	20	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19638351C>A	uc001bbw.2	-	1	290	c.268G>T	c.(268-270)GGG>TGG	p.G90W	AKR7A2_uc001bbx.2_Missense_Mutation_p.G90W|AKR7A2_uc009vpi.1_Missense_Mutation_p.G90W|PQLC2_uc001bby.2_5'Flank|PQLC2_uc001bbz.2_5'Flank|PQLC2_uc001bca.2_5'Flank|PQLC2_uc001bcb.2_5'Flank|PQLC2_uc001bcc.2_5'Flank	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	90					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		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;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCGAGCCCCAGGCCGCCC	0.687													A	19638351	C	A	19638351	3	1	273	1	0	0	0	0	1	0	0	0	475	623	22	5	839	5	AKR7A2	1	19638351	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	25586	19638351	229612270	32	137329											
PLA2G2A	5320	broad.mit.edu	37	chr1	20304571	20304571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttggtgccacatccacGtttctccagacgtttgtagc	8	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:20304571G>A	uc001bcu.2	-	4	447	c.229C>T	c.(229-231)CGT>TGT	p.R77C	PLA2G2A_uc001bcv.2_Missense_Mutation_p.R77C|PLA2G2A_uc010oda.1_Missense_Mutation_p.R77C|PLA2G2A_uc010odb.1_Missense_Mutation_p.R77C	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	phospholipase A2, group IIA precursor	77					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				0		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)		CCACATCCACGTTTCTCCAGA	0.537													A	20304571	G	A	20304571	3	1	273	1	0	0	0	0	1	0	0	0	11995	1145	40	1	213	1	PLA2G2A	1	20304571	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	666220	20304571	228946050	33	137330											
UBXN10	127733	broad.mit.edu	37	chr1	20517794	20517794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgaaacaatggaggtgcCcaggaggcgattttctgacc	12	9	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:20517794C>A	uc001bdb.2	+	2	824	c.740C>A	c.(739-741)CCC>CAC	p.P247H		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	247	UBX.									ovary(1)	1						ATGGAGGTGCCCAGGAGGCGA	0.517													A	20517794	C	A	20517794	3	1	273	1	0	0	0	0	1	0	0	0	16909	623	22	5	742	5	UBXN10	1	20517794	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	213223	20517794	228732827	34	137331											
HSPG2	3339	broad.mit.edu	37	chr1	22178356	22178356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgccgttgctggcccGgcagacgtactgtcccgcat	11	16	0	1	rs139721678		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:22178356G>A	uc001bfj.2	-	54	6974	c.6934C>T	c.(6934-6936)CGG>TGG	p.R2312W	HSPG2_uc009vqd.2_Missense_Mutation_p.R2313W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2312	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	TTGCTGGCCCGGCAGACGTAC	0.672													A	22178356	G	A	22178356	3	1	273	1	0	0	0	0	1	0	0	0	7430	1115	39	1	6417	1	HSPG2	1	22178356	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1660562	22178356	227072265	35	137332											
CELA3B	23436	broad.mit.edu	37	chr1	22304927	22304927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatggtgaggatgcggtcCcctacagctggccctggcag	14	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:22304927C>T	uc001bfk.2	+	2	224	c.109C>T	c.(109-111)CCC>TCC	p.P37S	CELA3B_uc009vqf.2_Missense_Mutation_p.P36S	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B, pancreatic preproprotein	37	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GGATGCGGTCCCCTACAGCTG	0.617													T	22304927	C	T	22304927	3	4	273	1	0	0	0	0	1	0	0	0	3214	623	22	4	115	4	CELA3B	1	22304927	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	126571	22304927	226945694	36	137333											
C1QA	712	broad.mit.edu	37	chr1	22965826	22965826	+	Frame_Shift_Del	DEL	A	A	-													tctgggttgaaaaagaccccAaaaagggtcacatttaccag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:22965825_22965825CA>C	uc001bfy.3	+	2	748	c.663_663CA>C	c.(661-663)cccfs	p.P221fs		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	221	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)	AAAAAGACCCCAAAAAGGGTC	0.597													-	22965826	A	-	22965826	7	5	273	1	0	1	0	1	0	0	0	0	1954	131	5	0	670	0	C1QA	1	22965826	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	660899	22965826	226284795	37	137334											
NIPAL3	57185	broad.mit.edu	37	chr1	24782721	24782721	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactaccccatcttctacgTgatgttcgtgtgcatggtgg	11	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:24782721T>C	uc001bjh.2	+	8	1138	c.731T>C	c.(730-732)GTG>GCG	p.V244A	NIPAL3_uc001bjg.2_Missense_Mutation_p.V244A|NIPAL3_uc009vrc.2_Missense_Mutation_p.V162A|NIPAL3_uc001bji.2_Missense_Mutation_p.V19A	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	244	Helical; (Potential).					integral to membrane					0						ATCTTCTACGTGATGTTCGTG	0.552													C	24782721	T	C	24782721	3	2	273	1	0	0	0	0	1	0	0	0	10426	1696	59	3	757	3	NIPAL3	1	24782721	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1816895	24782721	224467900	38	137335											
SRRM1	10250	broad.mit.edu	37	chr1	24979063	24979063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaatcaagatcccggacGcggtcccgctctccttctca	7	17	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:24979063G>A	uc001bjm.2	+	7	1088	c.864G>A	c.(862-864)ACG>ACA	p.T288T	SRRM1_uc010oel.1_Silent_p.T288T|SRRM1_uc009vrh.1_Silent_p.T249T|SRRM1_uc009vri.1_Silent_p.T205T|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	288	Pro-rich.|Arg-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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		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)		GATCCCGGACGCGGTCCCGCT	0.478													A	24979063	G	A	24979063	2	1	273	1	0	0	0	0	0	0	0	1	15167	1074	38	1		1	SRRM1	1	24979063	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	196342	24979063	224271558	39	137336											
GPATCH3	63906	broad.mit.edu	37	chr1	27223980	27223980	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcacattgccgtagcgccGggaggaacctgtcttgggga	16	10	1	0	rs138133219	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:27223980G>T	uc001bne.2	-	2	717	c.688C>A	c.(688-690)CGG>AGG	p.R230R	GPATCH3_uc009vsp.1_Silent_p.R41R	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	230						intracellular	nucleic acid binding				0		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)		CCGTAGCGCCGGGAGGAACCT	0.572													T	27223980	G	T	27223980	2	4	273	1	0	0	0	0	0	0	0	1	6592	1115	39	5		5	GPATCH3	1	27223980	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2244917	27223980	222026641	40	137337											
WDTC1	23038	broad.mit.edu	37	chr1	27631505	27631505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagcaacgctcagtatAtcgtcagtggctctgacgat	10	13	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:27631505A>G	uc009vst.2	+	15	2192	c.1657A>G	c.(1657-1659)ATC>GTC	p.I553V	WDTC1_uc001bno.2_Missense_Mutation_p.I552V|WDTC1_uc001bnp.1_Intron|WDTC1_uc001bnq.2_Missense_Mutation_p.I231V	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	553	WD 6.						protein binding			ovary(1)|central_nervous_system(1)	2		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)		CGCTCAGTATATCGTCAGTGG	0.582													G	27631505	A	G	27631505	3	3	273	1	0	0	0	0	1	0	0	0	17339	449	16	3	1708	3	WDTC1	1	27631505	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	407525	27631505	221619116	41	137338											
AHDC1	27245	broad.mit.edu	37	chr1	27878317	27878317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtcgggagctgctgcCgtctccgaccggtgtggggc	18	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:27878317C>T	uc009vsy.2	-	6	1279	c.310G>A	c.(310-312)GGC>AGC	p.G104S	AHDC1_uc009vsz.1_Missense_Mutation_p.G104S|AHDC1_uc001boh.1_5'UTR	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	104	Pro-rich.						DNA binding			central_nervous_system(1)	1		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)		GAGCTGCTGCCGTCTCCGACC	0.692													T	27878317	C	T	27878317	3	4	273	1	0	0	0	0	1	0	0	0	412	652	23	1	4505	1	AHDC1	1	27878317	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	246812	27878317	221372304	42	137339											
RCC1	1104	broad.mit.edu	37	chr1	28858744	28858744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacacatcagtggagggctCggagatggtccctgggaaag	17	8	1	1	rs150426843		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:28858744C>T	uc001bqg.1	+	4	408	c.323C>T	c.(322-324)TCG>TTG	p.S108L	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.S108L|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.S108L|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.S108L|RCC1_uc001bqe.1_Missense_Mutation_p.S125L|RCC1_uc001bqf.1_Missense_Mutation_p.S139L	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	108	RCC1 2.				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			ovary(1)	1		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)		GTGGAGGGCTCGGAGATGGTC	0.577													T	28858744	C	T	28858744	3	4	273	1	0	0	0	0	1	0	0	0	13173	893	31	1	430	1	RCC1	1	28858744	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	980427	28858744	220391877	43	137340											
YTHDF2	51441	broad.mit.edu	37	chr1	29070128	29070128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctgcttatcgttccaTgaacgggaaaggccccgttt	12	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:29070128T>C	uc001brc.2	+	4	1843	c.1346T>C	c.(1345-1347)ATG>ACG	p.M449T	YTHDF2_uc001brd.2_Missense_Mutation_p.M446T|YTHDF2_uc010ofx.1_Missense_Mutation_p.M399T|YTHDF2_uc001bre.2_Missense_Mutation_p.M399T	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	449	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-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)		TATCGTTCCATGAACGGGAAA	0.458													C	29070128	T	C	29070128	3	2	273	1	0	0	0	0	1	0	0	0	17496	1464	51	3	1360	3	YTHDF2	1	29070128	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	211384	29070128	220180493	44	137341											
SPOCD1	90853	broad.mit.edu	37	chr1	32256815	32256815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccttccttggggagcaGcacagccagcaacagacttg	11	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:32256815G>A	uc001bts.1	-	16	3098	c.3040C>T	c.(3040-3042)CTG>TTG	p.L1014L	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btt.2_Silent_p.L306L|SPOCD1_uc001btu.2_Silent_p.L1001L|SPOCD1_uc001btv.2_Silent_p.L494L	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1014					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTGGGGAGCAGCACAGCCAGC	0.562													A	32256815	G	A	32256815	2	1	273	1	0	0	0	0	0	0	0	1	15077	962	34	2		2	SPOCD1	1	32256815	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3186687	32256815	216993806	45	137342											
SPOCD1	90853	broad.mit.edu	37	chr1	32259828	32259828	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggctgcagtccatgaacatCtgcggtccctgggaggcaga	15	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:32259828C>A	uc001bts.1	-	11	2338	c.2280G>T	c.(2278-2280)CAG>CAT	p.Q760H	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btt.2_Missense_Mutation_p.Q65H|SPOCD1_uc001btu.2_Missense_Mutation_p.Q760H|SPOCD1_uc001btv.2_Missense_Mutation_p.Q253H	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	760					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCATGAACATCTGCGGTCCCT	0.622													A	32259828	C	A	32259828	3	1	273	1	0	0	0	0	1	0	0	0	15077	912	32	5	1394	5	SPOCD1	1	32259828	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3013	32259828	216990793	46	137343											
YARS	8565	broad.mit.edu	37	chr1	33245788	33245788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcagttcctccttgGgcacgaactgtaccaggccg	11	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:33245788G>A	uc001bvy.1	-	11	2020	c.1232C>T	c.(1231-1233)CCC>CTC	p.P411L	YARS_uc001bvw.1_Missense_Mutation_p.P71L|YARS_uc001bvx.1_Missense_Mutation_p.P62L	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	411	tRNA-binding.				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			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCCTCCTTGGGCACGAACTG	0.572													A	33245788	G	A	33245788	3	1	273	1	0	0	0	0	1	0	0	0	17464	1232	43	4	366	4	YARS	1	33245788	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	985960	33245788	216004833	47	137344											
ZSCAN20	7579	broad.mit.edu	37	chr1	33957297	33957297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctctgttccagagtcGtattggtaagaacatggggg	13	9	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:33957297G>A	uc001bxj.3	+	6	1606	c.1439G>A	c.(1438-1440)CGT>CAT	p.R480H	ZSCAN20_uc001bxk.2_Missense_Mutation_p.R426H|ZSCAN20_uc009vui.2_Missense_Mutation_p.R480H	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	480					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCCAGAGTCGTATTGGTAAG	0.542													A	33957297	G	A	33957297	3	1	273	1	0	0	0	0	1	0	0	0	18229	1145	40	1	1457	1	ZSCAN20	1	33957297	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	711509	33957297	215293324	48	137345											
CSMD2	114784	broad.mit.edu	37	chr1	34038130	34038130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgtggtgggacattgcGgttgctccataggcctgtgt	14	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:34038130G>A	uc001bxn.1	-	51	7773	c.7744C>T	c.(7744-7746)CGC>TGC	p.R2582C	CSMD2_uc001bxm.1_Missense_Mutation_p.R2580C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2582	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGACATTGCGGTTGCTCCAT	0.592													A	34038130	G	A	34038130	3	1	273	1	0	0	0	0	1	0	0	0	3945	1116	39	1	2795	1	CSMD2	1	34038130	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	80833	34038130	215212491	49	137346											
DLGAP3	58512	broad.mit.edu	37	chr1	35370000	35370000	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtatgccaggcacttcGcttgaccgactgtccatcca	9	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:35370000G>A	uc001byc.2	-	1	985	c.985C>T	c.(985-987)CGA>TGA	p.R329*		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	329					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CAGGCACTTCGCTTGACCGAC	0.662													A	35370000	G	A	35370000	4	1	273	1	0	0	0	0	0	1	0	0	4561	1095	38	1	1994	1	DLGAP3	1	35370000	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1331870	35370000	213880621	50	137347											
ZMYM6	9204	broad.mit.edu	37	chr1	35457859	35457859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacattctttgtgctgtgTatgtggtttgcaagaagtgg	13	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:35457859T>C	uc001byh.2	-	15	2350	c.2122A>G	c.(2122-2124)ACA>GCA	p.T708A	ZMYM6_uc001byf.1_Missense_Mutation_p.T708A|ZMYM6_uc010oht.1_Missense_Mutation_p.T611A|ZMYM6_uc009vup.2_Missense_Mutation_p.T514A|ZMYM6_uc009vuq.1_Missense_Mutation_p.T708A	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	708					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTGTGCTGTGTATGTGGTTTG	0.418													C	35457859	T	C	35457859	3	2	273	1	0	0	0	0	1	0	0	0	17701	1638	57	3	1863	3	ZMYM6	1	35457859	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	87859	35457859	213792762	51	137348											
CSF3R	1441	broad.mit.edu	37	chr1	36935359	36935359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactcaatcacatagccctgAggccatggattggggggctc	12	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:36935359A>G	uc001caw.1	-	11	1546	c.1368T>C	c.(1366-1368)CCT>CCC	p.P456P	CSF3R_uc001cat.1_Silent_p.P19P|CSF3R_uc009vvc.1_Silent_p.P19P|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Silent_p.P456P|CSF3R_uc001cax.1_Silent_p.P456P|CSF3R_uc001cay.1_Silent_p.P456P	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	456	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATAGCCCTGAGGCCATGGAT	0.632													G	36935359	A	G	36935359	2	3	273	1	0	0	0	0	0	0	0	1	3937	291	11	3		3	CSF3R	1	36935359	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1477500	36935359	212315262	52	137349											
MACF1	23499	broad.mit.edu	37	chr1	39797891	39797892	+	Frame_Shift_Ins	INS	-	-	A													tgtctactgaactagcacatINSaaaatccttagtaaccgaca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:39797891_39797892insA	uc010oiu.1	+	1	1082_1083	c.951_952insA	c.(949-954)CATAAAfs	p.H317fs	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1882_1883	Plectin 5.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			AACTAGCACATAAAATCCTTAG	0.446													A	39797892	-	A	39797891	7	5	273	1	0	1	1	0	0	0	0	0	9144	1403	49	0	5722	0	MACF1	1	39797891	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2862532	39797891	209452730	53	137350	709	2									
MACF1	23499	broad.mit.edu	37	chr1	39797892	39797893	+	Frame_Shift_Ins	INS	-	-	A													gtctactgaactagcacataINSaaatccttagtaaccgacag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:39797891_39797892T>TA	uc021olw.1	+	0	951_952	c.951_952T>TA	c.(949-954)cataaafs	p.H317fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1882					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			AACTAGCACATAAAATCCTTAG	0.446													A	39797893	-	A	39797892	7	5	273	1	0	1	1	0	0	0	0	0	9144	363	13	0	5723	0	MACF1	1	39797892	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	39797892	209452729	54	137351	709	2									
MACF1	23499	broad.mit.edu	37	chr1	39926431	39926431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaccaggatgggaagataaCacgtcaggagtttatcgatg	14	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:39926431C>A	uc010oiu.1	+	57	16948	c.16817C>A	c.(16816-16818)ACA>AAA	p.T5606K	MACF1_uc010ois.1_Missense_Mutation_p.T5104K|MACF1_uc001cde.1_5'Flank|MACF1_uc001cdf.1_5'Flank	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7062	1 (Potential).|EF-hand 1.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			GGGAAGATAACACGTCAGGAG	0.443													A	39926431	C	A	39926431	3	1	273	1	0	0	0	0	1	0	0	0	9144	478	17	5	21812	5	MACF1	1	39926431	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	128539	39926431	209324190	55	137352											
HEYL	26508	broad.mit.edu	37	chr1	40092677	40092677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggccagtgggcgtgggCgaaggctccatctcggctgc	17	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:40092677C>T	uc001cdp.2	-	5	540	c.489G>A	c.(487-489)TCG>TCA	p.S163S	HEYL_uc010oiw.1_Silent_p.S135S	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	163	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	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)			TGGGCGTGGGCGAAGGCTCCA	0.657													T	40092677	C	T	40092677	2	4	273	1	0	0	0	0	0	0	0	1	7080	755	27	1		1	HEYL	1	40092677	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	166246	40092677	209157944	56	137353											
NT5C1A	84618	broad.mit.edu	37	chr1	40129045	40129045	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtagaggttggtgtgataGgccttgaggtagcagatcgg	17	4	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:40129045G>T	uc001cdq.1	-	4	495	c.495C>A	c.(493-495)GCC>GCA	p.A165A		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	165					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			ovary(1)	1	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)			TGGTGTGATAGGCCTTGAGGT	0.532													T	40129045	G	T	40129045	2	4	273	1	0	0	0	0	0	0	0	1	10685	987	35	5		5	NT5C1A	1	40129045	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	36368	40129045	209121576	57	137354											
PPIE	10450	broad.mit.edu	37	chr1	40205879	40205879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacaaagttcttcatgctgCgttcattccttttggagaca	8	10	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:40205879C>T	uc001cds.1	+	2	117	c.74C>T	c.(73-75)GCG>GTG	p.A25V	PPIE_uc001cdt.1_5'UTR|PPIE_uc010oiy.1_5'UTR|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.A25V|PPIE_uc001cdw.2_Missense_Mutation_p.A25V|PPIE_uc001cdx.1_5'Flank	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	25	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCATGCTGCGTTCATTCCT	0.453													T	40205879	C	T	40205879	3	4	273	1	0	0	0	0	1	0	0	0	12322	768	27	1	80	1	PPIE	1	40205879	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	76834	40205879	209044742	58	137355											
TIE1	7075	broad.mit.edu	37	chr1	43773243	43773243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagccagtgccaagaaGgtatgcctaacctaccctca	10	12	1	1	rs138017811		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:43773243G>T	uc001ciu.2	+	6	992	c.913G>T	c.(913-915)GCT>TCT	p.A305S	TIE1_uc010okd.1_Missense_Mutation_p.A305S|TIE1_uc010oke.1_Missense_Mutation_p.A260S|TIE1_uc009vwq.2_Missense_Mutation_p.A261S|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Missense_Mutation_p.V305F	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	305	EGF-like 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCCAAGAAGGTATGCCTAA	0.612													T	43773243	G	T	43773243	3	4	273	1	0	0	0	0	1	0	0	0	15890	1014	35	5	935	5	TIE1	1	43773243	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3567364	43773243	205477378	59	137356											
TIE1	7075	broad.mit.edu	37	chr1	43778821	43778821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagggcctccagccccccGacacctccacgcccaggccc	8	25	0	0	rs67868228		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:43778821G>A	uc001ciu.2	+	13	2022	c.1943G>A	c.(1942-1944)CGA>CAA	p.R648Q	TIE1_uc010okd.1_Missense_Mutation_p.R648Q|TIE1_uc010oke.1_Missense_Mutation_p.R603Q|TIE1_uc009vwq.2_Missense_Mutation_p.R604Q|TIE1_uc010okf.1_Missense_Mutation_p.R293Q|TIE1_uc010okg.1_Missense_Mutation_p.R293Q	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	648	Fibronectin type-III 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGCCCCCCGACACCTCCAC	0.627													A	43778821	G	A	43778821	3	1	273	1	0	0	0	0	1	0	0	0	15890	1058	37	1	1993	1	TIE1	1	43778821	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5578	43778821	205471800	60	137357											
PTPRF	5792	broad.mit.edu	37	chr1	44086873	44086873	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaccgtgaagaccctgcgTacacagcgtcctgccatggt	11	14	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:44086873T>C	uc001cjr.2	+	33	5965	c.5625T>C	c.(5623-5625)CGT>CGC	p.R1875R	PTPRF_uc001cjs.2_Silent_p.R1866R|PTPRF_uc001cju.2_Silent_p.R1264R|PTPRF_uc009vwt.2_Silent_p.R1435R|PTPRF_uc001cjv.2_Silent_p.R1346R|PTPRF_uc001cjw.2_Silent_p.R1101R	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1875	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGACCCTGCGTACACAGCGTC	0.632													C	44086873	T	C	44086873	2	2	273	1	0	0	0	0	0	0	0	1	12801	1625	57	3		3	PTPRF	1	44086873	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	308052	44086873	205163748	61	137358											
DMAP1	55929	broad.mit.edu	37	chr1	44684864	44684864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagcggcgcacggaacGcaaggcccccaaaaagaagc	13	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:44684864G>A	uc001clq.1	+	7	937	c.857G>A	c.(856-858)CGC>CAC	p.R286H	DMAP1_uc001clr.1_Missense_Mutation_p.R286H|DMAP1_uc001cls.1_Missense_Mutation_p.R286H|DMAP1_uc010oku.1_Missense_Mutation_p.R276H	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	286					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				0	Acute lymphoblastic leukemia(166;0.155)					CGCACGGAACGCAAGGCCCCC	0.612													A	44684864	G	A	44684864	3	1	273	1	0	0	0	0	1	0	0	0	4576	1087	38	1	879	1	DMAP1	1	44684864	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	597991	44684864	204565757	62	137359											
EIF2B3	8891	broad.mit.edu	37	chr1	45345566	45345566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatgatgtggacatagCagcgcacctgtgatctggac	11	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:45345566C>T	uc001cmt.1	-	8	1026	c.899G>A	c.(898-900)TGC>TAC	p.C300Y	EIF2B3_uc001cmu.1_Missense_Mutation_p.C300Y|EIF2B3_uc001cmv.1_Missense_Mutation_p.C300Y|EIF2B3_uc001cmw.2_Missense_Mutation_p.C300Y	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	300					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GTGGACATAGCAGCGCACCTG	0.502													T	45345566	C	T	45345566	3	4	273	1	0	0	0	0	1	0	0	0	5002	710	25	2	516	2	EIF2B3	1	45345566	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	660702	45345566	203905055	63	137360											
LRRC41	10489	broad.mit.edu	37	chr1	46745947	46745947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggaagctcagtcttttcAgggctaggttgtactctgga	12	8	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:46745947A>G	uc001cpn.2	-	7	1981	c.1937T>C	c.(1936-1938)CTG>CCG	p.L646P	LRRC41_uc010omb.1_Missense_Mutation_p.L646P	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	646	LRR 5.									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CAGTCTTTTCAGGGCTAGGTT	0.483													G	46745947	A	G	46745947	3	3	273	1	0	0	0	0	1	0	0	0	8999	188	7	3	517	3	LRRC41	1	46745947	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1400381	46745947	202504674	64	137361											
MKNK1	8569	broad.mit.edu	37	chr1	47030770	47030770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgttcagtttcatcccActgcccaagtcaaagtcaca	7	12	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:47030770A>G	uc001cqb.2	-	10	955	c.711T>C	c.(709-711)AGT>AGC	p.S237S	MKNK1_uc010omd.1_Silent_p.S101S|MKNK1_uc001cqc.2_Silent_p.S196S|MKNK1_uc009vyi.2_Silent_p.S196S|MKNK1_uc010ome.1_Silent_p.S101S|MKNK1_uc009vyj.2_Silent_p.S141S	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	237	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					GTTTCATCCCACTGCCCAAGT	0.488													G	47030770	A	G	47030770	2	3	273	1	0	0	0	0	0	0	0	1	9604	156	6	3		3	MKNK1	1	47030770	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	284823	47030770	202219851	65	137362											
CYP4B1	1580	broad.mit.edu	37	chr1	47284440	47284440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcgctccaagaatgGctttcacctccacctgaagc	8	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:47284440G>A	uc001cqm.3	+	12	1574	c.1490G>A	c.(1489-1491)GGC>GAC	p.G497D	CYP4B1_uc001cqn.3_Missense_Mutation_p.G498D|CYP4B1_uc009vym.2_Missense_Mutation_p.G483D|CYP4B1_uc010omk.1_Missense_Mutation_p.G334D	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	497					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					TCCAAGAATGGCTTTCACCTC	0.597													A	47284440	G	A	47284440	3	1	273	1	0	0	0	0	1	0	0	0	4185	1203	42	2	1539	2	CYP4B1	1	47284440	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	253670	47284440	201966181	66	137363											
SLC5A9	200010	broad.mit.edu	37	chr1	48708212	48708212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcacaccggagatatcCgagaggccagccggggagtg	17	10	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:48708212C>T	uc001cro.2	+	13	1813	c.1761C>T	c.(1759-1761)TCC>TCT	p.S587S	SLC5A9_uc001crn.2_Silent_p.S612S|SLC5A9_uc010omt.1_Silent_p.S601S|SLC5A9_uc001crp.2_Silent_p.S254S|SLC5A9_uc010omu.1_Silent_p.S254S|SLC5A9_uc009vyt.1_RNA	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	587	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CGGAGATATCCGAGAGGCCAG	0.657													T	48708212	C	T	48708212	2	4	273	1	0	0	0	0	0	0	0	1	14672	639	23	1		1	SLC5A9	1	48708212	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1423772	48708212	200542409	67	137364											
ELAVL4	1996	broad.mit.edu	37	chr1	50661335	50661335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcggtgctacggaacCgattactgtgaagtttgcca	12	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:50661335C>T	uc001csb.2	+	5	879	c.611C>T	c.(610-612)CCG>CTG	p.P204L	ELAVL4_uc001cry.3_Missense_Mutation_p.P207L|ELAVL4_uc001crz.3_Missense_Mutation_p.P204L|ELAVL4_uc001csa.3_Missense_Mutation_p.P221L|ELAVL4_uc001csc.3_Missense_Mutation_p.P204L|ELAVL4_uc009vyu.2_Missense_Mutation_p.P209L|ELAVL4_uc010omz.1_Missense_Mutation_p.P209L	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	204	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GCTACGGAACCGATTACTGTG	0.577													T	50661335	C	T	50661335	3	4	273	1	0	0	0	0	1	0	0	0	5052	652	23	1	728	1	ELAVL4	1	50661335	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1953123	50661335	198589286	68	137365											
ZCCHC11	23318	broad.mit.edu	37	chr1	52956410	52956410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattgttaccaacctttttCgatctctgcacaccacaaca	3	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:52956410C>T	uc001ctx.2	-	8	1616	c.1382G>A	c.(1381-1383)CGA>CAA	p.R461Q	ZCCHC11_uc001cty.2_Missense_Mutation_p.R461Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R461Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.R461Q|ZCCHC11_uc009vzf.1_Missense_Mutation_p.R220Q|ZCCHC11_uc001cub.2_Missense_Mutation_p.R461Q|ZCCHC11_uc001cuc.2_RNA	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	461					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CAACCTTTTTCGATCTCTGCA	0.294													T	52956410	C	T	52956410	3	4	273	1	0	0	0	0	1	0	0	0	17577	884	31	1	3647	1	ZCCHC11	1	52956410	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2295075	52956410	196294211	69	137366											
ZYG11B	79699	broad.mit.edu	37	chr1	53279364	53279364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggtgaacaagcttggAcattgagtcgtagccagagg	14	8	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:53279364A>G	uc001cuj.2	+	11	2047	c.1852A>G	c.(1852-1854)ACA>GCA	p.T618A	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.T539A|ZYG11B_uc009vzh.2_Missense_Mutation_p.T40A	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	618							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ACAAGCTTGGACATTGAGTCG	0.423													G	53279364	A	G	53279364	3	3	273	1	0	0	0	0	1	0	0	0	18250	275	10	3	1894	3	ZYG11B	1	53279364	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	322954	53279364	195971257	70	137367											
SCP2	6342	broad.mit.edu	37	chr1	53446143	53446143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccaaatgatattgacGtaatagaacttcacgattgc	7	8	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:53446143G>A	uc001cur.1	+	10	1022	c.901G>A	c.(901-903)GTA>ATA	p.V301I	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.V220I|SCP2_uc010onp.1_Missense_Mutation_p.V277I|SCP2_uc009vzi.1_Missense_Mutation_p.V257I|SCP2_uc001cuq.1_Missense_Mutation_p.V257I	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	301					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						TGATATTGACGTAATAGAACT	0.368													A	53446143	G	A	53446143	3	1	273	1	0	0	0	0	1	0	0	0	13934	1145	40	1	939	1	SCP2	1	53446143	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	166779	53446143	195804478	71	137368											
SSBP3	23648	broad.mit.edu	37	chr1	54870568	54870568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatttctgtgctcctAcgtgcagtaaatattcgtag	10	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:54870568A>G	uc001cxe.2	-	2	390	c.92T>C	c.(91-93)GTA>GCA	p.V31A	SSBP3_uc001cxf.2_Missense_Mutation_p.V31A|SSBP3_uc001cxg.2_Missense_Mutation_p.V31A	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	31	LisH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0						CTGTGCTCCTACGTGCAGTAA	0.537													G	54870568	A	G	54870568	3	3	273	1	0	0	0	0	1	0	0	0	15180	391	14	3	1142	3	SSBP3	1	54870568	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1424425	54870568	194380053	72	137369											
C1orf177	163747	broad.mit.edu	37	chr1	55273679	55273679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttcgcttccgaggactcActggggtaggtgttctcatg	14	9	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:55273679A>G	uc001cyb.3	+	4	529	c.475A>G	c.(475-477)ACT>GCT	p.T159A	C1orf177_uc001cya.3_Missense_Mutation_p.T159A	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	159											0						CCGAGGACTCACTGGGGTAGG	0.413													G	55273679	A	G	55273679	3	3	273	1	0	0	0	0	1	0	0	0	2017	159	6	3	489	3	C1orf177	1	55273679	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	403111	55273679	193976942	73	137370											
NFIA	4774	broad.mit.edu	37	chr1	61848996	61848996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcctccctgggaacggCgttcacacagcatcaccgac	9	17	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:61848996C>T	uc001czw.2	+	7	1518	c.1034C>T	c.(1033-1035)GCG>GTG	p.A345V	NFIA_uc001czy.2_Missense_Mutation_p.A337V|NFIA_uc010oos.1_Missense_Mutation_p.A390V|NFIA_uc001czv.2_Missense_Mutation_p.A345V	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	345					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						CTGGGAACGGCGTTCACACAG	0.552													T	61848996	C	T	61848996	3	4	273	1	0	0	0	0	1	0	0	0	10370	768	27	1	1206	1	NFIA	1	61848996	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6575317	61848996	187401625	74	137371											
INADL	10207	broad.mit.edu	37	chr1	62267407	62267407	+	Frame_Shift_Del	DEL	A	A	-													aaagaaagaattgatactttAaaaaatgacaacatacaagc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:62267407delA	uc001dab.2	+	12	1629	c.1515delA	c.(1513-1515)TTAfs	p.L505fs	INADL_uc009waf.1_Frame_Shift_Del_p.L505fs|INADL_uc001daa.2_Frame_Shift_Del_p.L505fs|INADL_uc001dad.3_Frame_Shift_Del_p.L202fs	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	505					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TTGATACTTTAAAAAATGACA	0.353													-	62267407	A	-	62267407	7	5	273	1	0	1	0	1	0	0	0	0	7731	359	13	0	1557	0	INADL	1	62267407	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	418411	62267407	186983214	75	137372											
ROR1	4919	broad.mit.edu	37	chr1	64608132	64608132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggactaccgggggaccGtcagtgtgaccaaatcaggg	16	9	2	1	rs150545478		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:64608132G>A	uc001dbj.2	+	7	1372	c.973G>A	c.(973-975)GTC>ATC	p.V325I	ROR1_uc001dbi.3_Missense_Mutation_p.V325I|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	325	Kringle.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CCGGGGGACCGTCAGTGTGAC	0.502													A	64608132	G	A	64608132	3	1	273	1	0	0	0	0	1	0	0	0	13526	1145	40	1	999	1	ROR1	1	64608132	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2340725	64608132	184642489	76	137373											
LEPR	3953	broad.mit.edu	37	chr1	66081741	66081741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagagatatgtgataaaCcatcatacttcctgcaatgg	8	8	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:66081741C>T	uc001dci.2	+	15	2248	c.2046C>T	c.(2044-2046)AAC>AAT	p.N682N	LEPR_uc001dcg.2_Silent_p.N682N|LEPR_uc001dch.2_Silent_p.N682N|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.N682N|LEPR_uc001dck.2_Silent_p.N682N	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	682	Extracellular (Potential).|Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGTGATAAACCATCATACTT	0.398													T	66081741	C	T	66081741	2	4	273	1	0	0	0	0	0	0	0	1	8728	506	18	4		4	LEPR	1	66081741	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1473609	66081741	183168880	77	137374											
PDE4B	5142	broad.mit.edu	37	chr1	66831383	66831384	+	Frame_Shift_Ins	INS	-	-	T													tttggagatcctggctgccaINStttttgcagctgccatccat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:66831383_66831384insT	uc001dcn.2	+	13	1509_1510	c.1318_1319insT	c.(1318-1320)ATTfs	p.I440fs	PDE4B_uc009war.2_Frame_Shift_Ins_p.I348fs|PDE4B_uc001dco.2_Frame_Shift_Ins_p.I440fs|PDE4B_uc001dcp.2_Frame_Shift_Ins_p.I425fs|PDE4B_uc001dcq.2_Frame_Shift_Ins_p.I268fs|PDE4B_uc009was.2_Frame_Shift_Ins_p.I207fs	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	440					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCTGGCTGCCATTTTTGCAGCT	0.431													T	66831384	-	T	66831383	7	5	273	1	0	1	1	0	0	0	0	0	11640	217	8	0	1722	0	PDE4B	1	66831383	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	749642	66831383	182419238	78	137375	710	2									
PDE4B	5142	broad.mit.edu	37	chr1	66831384	66831385	+	Frame_Shift_Ins	INS	-	-	T													ttggagatcctggctgccatINSttttgcagctgccatccatg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:66831383_66831384A>AT	uc001dcn.3	+	12	1509_1510	c.1318_1319A>AT	c.(1318-1320)attfs	p.I440fs	PDE4B_uc009war.3_Frame_Shift_Ins_p.I348fs|PDE4B_uc001dco.3_Frame_Shift_Ins_p.I440fs|PDE4B_uc001dcp.3_Frame_Shift_Ins_p.I425fs|PDE4B_uc001dcq.3_Frame_Shift_Ins_p.I268fs|PDE4B_uc009was.3_Frame_Shift_Ins_p.I207fs	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	440					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)	CCTGGCTGCCATTTTTGCAGCT	0.431													T	66831385	-	T	66831384	7	5	273	1	0	1	1	0	0	0	0	0	11640	1493	52	0	1723	0	PDE4B	1	66831384	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	66831384	182419237	79	137376	710	2									
GNG12	55970	broad.mit.edu	37	chr1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-													ccactataagatgatgcaagTttttttatccttgaaagggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433													-	68171151	T	-	68171151	7	5	273	1	0	1	0	1	0	0	0	0	6525	1725	60	0	20	0	GNG12	1	68171151	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1339767	68171151	181079470	80	137377											
FPGT	8790	broad.mit.edu	37	chr1	74670120	74670120	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtgctctgggaaaaaTtttcactgctttacctcttg	8	9	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:74670120T>A	uc001dgb.1	+	4	426	c.389T>A	c.(388-390)ATT>AAT	p.I130N	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Missense_Mutation_p.I130N|FPGT_uc010oqv.1_Missense_Mutation_p.I130N	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	130					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						CTGGGAAAAATTTTCACTGCT	0.323													A	74670120	T	A	74670120	3	1	273	1	0	0	0	0	1	0	0	0	6037	1493	52	5	403	5	FPGT	1	74670120	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6498969	74670120	174580501	81	137378											
SYDE2	84144	broad.mit.edu	37	chr1	85666014	85666014	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgcccacatttggggaGgctgcctgcgttcctgtgac	13	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:85666014G>T	uc009wcm.2	-	1	715	c.666C>A	c.(664-666)GCC>GCA	p.A222A	SYDE2_uc001dku.3_Silent_p.A222A	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	222					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		CATTTGGGGAGGCTGCCTGCG	0.552													T	85666014	G	T	85666014	2	4	273	1	0	0	0	0	0	0	0	1	15433	987	35	5		5	SYDE2	1	85666014	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	10995894	85666014	163584607	82	137379											
CLCA2	9635	broad.mit.edu	37	chr1	86900375	86900375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacattctcgcttgtacagGctggtgacaaagtggtctgt	11	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:86900375G>T	uc001dlr.3	+	6	1081	c.919G>T	c.(919-921)GCT>TCT	p.A307S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	307	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GCTTGTACAGGCTGGTGACAA	0.438													T	86900375	G	T	86900375	3	4	273	1	0	0	0	0	1	0	0	0	3458	1203	42	5	941	5	CLCA2	1	86900375	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1234361	86900375	162350246	83	137380											
CLCA4	22802	broad.mit.edu	37	chr1	87012848	87012848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttagttctgtgcctgCtgcaccagtcaaatacttcc	6	14	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:87012848C>T	uc009wcs.2	+	1	90	c.46C>T	c.(46-48)CTG>TTG	p.L16L	CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	16						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCTGTGCCTGCTGCACCAGTC	0.368													T	87012848	C	T	87012848	2	4	273	1	0	0	0	0	0	0	0	1	3459	796	28	2		2	CLCA4	1	87012848	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	112473	87012848	162237773	84	137381											
GTF2B	2959	broad.mit.edu	37	chr1	89325936	89325936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgattctggtacttagaatTgccaaattcgtcaaaacttg	7	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:89325936T>C	uc001dmo.3	-	4	411	c.292A>G	c.(292-294)AAT>GAT	p.N98D	GTF2B_uc009wcw.1_RNA	NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	98					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	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TACTTAGAATTGCCAAATTCG	0.363													C	89325936	T	C	89325936	3	2	273	1	0	0	0	0	1	0	0	0	6855	1812	63	3	674	3	GTF2B	1	89325936	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2313088	89325936	159924685	85	137382											
GBP4	115361	broad.mit.edu	37	chr1	89656966	89656966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccagtgacaatgattccCtctctcagggtcttggtctt	8	11	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:89656966C>A	uc001dnb.2	-	6	1010	c.894G>T	c.(892-894)GAG>GAT	p.E298D		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	298				E -> K (in Ref. 5; AAH70055).		cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAATGATTCCCTCTCTCAGGG	0.428													A	89656966	C	A	89656966	3	1	273	1	0	0	0	0	1	0	0	0	6276	680	24	5	1052	5	GBP4	1	89656966	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	331030	89656966	159593655	86	137383											
GBP4	115361	broad.mit.edu	37	chr1	89661070	89661070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacaccacatccagatgccCttagtttcagactgcaccgt	6	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:89661070C>A	uc001dnb.2	-	3	389	c.273G>T	c.(271-273)AAG>AAT	p.K91N		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	91						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCCAGATGCCCTTAGTTTCAG	0.537													A	89661070	C	A	89661070	3	1	273	1	0	0	0	0	1	0	0	0	6276	680	24	5	1685	5	GBP4	1	89661070	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4104	89661070	159589551	87	137384											
LRRC8B	23507	broad.mit.edu	37	chr1	90049465	90049465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcttgtgaaaaatgcccAggacaagatagaactgcatc	9	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:90049465A>G	uc001dni.2	+	7	1763	c.1256A>G	c.(1255-1257)CAG>CGG	p.Q419R	LRRC8B_uc001dnh.2_Missense_Mutation_p.Q419R|LRRC8B_uc001dnj.2_Missense_Mutation_p.Q419R	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	419						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AAAAATGCCCAGGACAAGATA	0.398													G	90049465	A	G	90049465	3	3	273	1	0	0	0	0	1	0	0	0	9022	188	7	3	1258	3	LRRC8B	1	90049465	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	388395	90049465	159201156	88	137385											
HFM1	164045	broad.mit.edu	37	chr1	91788662	91788662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtacctgatagttatcCgatttggatctttgttcaaa	7	7	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:91788662C>T	uc001doa.3	-	22	2622	c.2522G>A	c.(2521-2523)CGG>CAG	p.R841Q	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.R520Q|HFM1_uc001dob.3_Missense_Mutation_p.R73Q|HFM1_uc010osv.1_Missense_Mutation_p.R525Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	841	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		GATAGTTATCCGATTTGGATC	0.254													T	91788662	C	T	91788662	3	4	273	1	0	0	0	0	1	0	0	0	7083	652	23	1	1857	1	HFM1	1	91788662	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1739197	91788662	157461959	89	137386											
RPL5	6125	broad.mit.edu	37	chr1	93306110	93306112	+	In_Frame_Del	DEL	GGA	GGA	-													tgctttcctttgtttcagatGgaggagatgtataagaaagc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:93306109_93306111TGGA>T	uc001doz.3	+	6	785_787	c.707_709TGGA>T	c.(706-711)atggag>aTag	p.236_237ME>I	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_In_Frame_Del_p.186_187ME>I|RPL5_uc001dpd.3_In_Frame_Del_p.37_38ME>I|RPL5_uc009wdi.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	236					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTGTTTCAGATGGAGGAGATGTA	0.369													-	93306112	GGA	-	93306110	7	5	273	1	0	1	0	1	0	0	0	0	13597	1348	47	0	734	0	RPL5	1	93306110	In_Frame_Del	DEL	GGA	TCGA-HU-A4GT-01A-21D-A25D-08	1517448	93306110	155944511	90	137387											
CNN3	1266	broad.mit.edu	37	chr1	95363495	95363495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggatcatatacttgccGcccaagcccatacacactca	6	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:95363495G>A	uc010otw.1	-	8	875	c.793C>T	c.(793-795)CGG>TGG	p.R265W	CNN3_uc010otv.1_Missense_Mutation_p.R224W|CNN3_uc001dqz.3_Missense_Mutation_p.R265W|CNN3_uc010otx.1_Missense_Mutation_p.R219W	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	265	Calponin-like 3.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATACTTGCCGCCCAAGCCCA	0.468													A	95363495	G	A	95363495	3	1	273	1	0	0	0	0	1	0	0	0	3611	1086	38	1	200	1	CNN3	1	95363495	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2057385	95363495	153887126	91	137388											
WDR47	22911	broad.mit.edu	37	chr1	109556515	109556516	+	Frame_Shift_Ins	INS	-	-	A													gttaacacataaagcttctaINSaaaacttctgcttcaggata							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:109556514_109556515T>TA	uc001dwl.3	-	3	651_652	c.275_276A>TA	c.(274-276)ttafs	p.L92fs	WDR47_uc001dwi.3_Frame_Shift_Ins_p.L92fs|WDR47_uc001dwj.3_Frame_Shift_Ins_p.L92fs|WDR47_uc001dwk.2_Frame_Shift_Ins_p.L64fs|WDR47_uc010ovf.2_Frame_Shift_Ins_p.L19fs	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	92	CTLH.									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)		ATAAAGCTTCTAAAAACTTCTG	0.361													A	109556516	-	A	109556515	7	5	273	1	0	1	1	0	0	0	0	0	17297	372	13	0	2556	0	WDR47	1	109556515	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	14193020	109556515	139694106	92	137389											
SARS	6301	broad.mit.edu	37	chr1	109778615	109778615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagattgaacagtttgtgtActcatcaccccatgacaaca	7	11	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:109778615A>G	uc001dwu.1	+	8	1061	c.986A>G	c.(985-987)TAC>TGC	p.Y329C	SARS_uc001dwt.1_Missense_Mutation_p.Y329C|SARS_uc001dwv.1_Missense_Mutation_p.Y329C|SARS_uc001dww.1_Missense_Mutation_p.Y262C|SARS_uc001dwx.1_Missense_Mutation_p.Y281C|SARS_uc009wfa.1_Missense_Mutation_p.Y329C|SARS_uc001dwy.1_Missense_Mutation_p.Y154C|SARS_uc001dwz.1_Missense_Mutation_p.Y154C	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	329					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CAGTTTGTGTACTCATCACCC	0.488													G	109778615	A	G	109778615	3	3	273	1	0	0	0	0	1	0	0	0	13844	391	14	3	1016	3	SARS	1	109778615	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	222100	109778615	139472006	93	137390											
CELSR2	1952	broad.mit.edu	37	chr1	109795382	109795382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgcgggcatatgcagTggacaaggggatgcccccag	15	10	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:109795382T>C	uc001dxa.3	+	1	2742	c.2681T>C	c.(2680-2682)GTG>GCG	p.V894A		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	894	Extracellular (Potential).|Cadherin 7.				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			ovary(4)|lung(3)|skin(1)	8		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)		GCATATGCAGTGGACAAGGGG	0.542													C	109795382	T	C	109795382	3	2	273	1	0	0	0	0	1	0	0	0	3222	1696	59	3	2683	3	CELSR2	1	109795382	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	16767	109795382	139455239	94	137391											
AMIGO1	57463	broad.mit.edu	37	chr1	110050474	110050477	+	Frame_Shift_Del	DEL	ACAG	ACAG	-													aattgtgcactttcaattccAcagacagtgtctcattgaaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:110050473_110050476CACAG>C	uc021org.1	-	0	1059_1062	c.1059_1062CTGTG>G	c.(1057-1062)tctgtgfs	p.S353fs	AMIGO1_uc001dxx.4_Frame_Shift_Del_p.S353fs	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	353	Ig-like C2-type.				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)		CTTTCAATTCCACAGACAGTGTCT	0.51													-	110050477	ACAG	-	110050474	7	5	273	1	0	1	0	1	0	0	0	0	575	159	6	0	424	0	AMIGO1	1	110050474	Frame_Shift_Del	DEL	ACAG	TCGA-HU-A4GT-01A-21D-A25D-08	255092	110050474	139200147	95	137392											
AMIGO1	57463	broad.mit.edu	37	chr1	110051154	110051154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtcactgaacaggaaCtcatccagtgtacgcagctg	11	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:110051154C>T	uc001dxx.3	-	2	763	c.381G>A	c.(379-381)GAG>GAA	p.E127E		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	127	LRR 3.|Extracellular (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		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)		TGAACAGGAACTCATCCAGTG	0.577													T	110051154	C	T	110051154	2	4	273	1	0	0	0	0	0	0	0	1	575	564	20	4		4	AMIGO1	1	110051154	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	680	110051154	139199467	96	137393											
KCNC4	3749	broad.mit.edu	37	chr1	110765982	110765982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcatcctgcgtatcttcAagctcacacgccacttcgtg	8	15	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:110765982A>G	uc001dzh.2	+	2	1132	c.1075A>G	c.(1075-1077)AAG>GAG	p.K359E	KCNC4_uc001dzf.2_Missense_Mutation_p.K359E|KCNC4_uc009wfr.2_Missense_Mutation_p.K359E|KCNC4_uc001dzg.2_Missense_Mutation_p.K359E|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	359	Helical; Voltage-sensor; Name=Segment S4; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGTATCTTCAAGCTCACACG	0.647													G	110765982	A	G	110765982	3	3	273	1	0	0	0	0	1	0	0	0	8017	131	5	3	1081	3	KCNC4	1	110765982	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	714828	110765982	138484639	97	137394											
KCNA3	3738	broad.mit.edu	37	chr1	111216001	111216001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagttggaaacaatcacGggaactggcaatgcgatggt	13	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:111216001G>A	uc001dzv.1	-	1	1655	c.1431C>T	c.(1429-1431)CCC>CCT	p.P477P		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	477	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		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)		AAACAATCACGGGAACTGGCA	0.537													A	111216001	G	A	111216001	2	1	273	1	0	0	0	0	0	0	0	1	8004	1103	39	1		1	KCNA3	1	111216001	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	450019	111216001	138034620	98	137395											
WNT2B	7482	broad.mit.edu	37	chr1	113057511	113057511	+	Frame_Shift_Del	DEL	G	G	-													tgcaggtacattggggcactGggggcacgagtgatctgtga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:113057511delG	uc001ecb.2	+	2	713	c.198delG	c.(196-198)CTGfs	p.L66fs	WNT2B_uc001eca.2_Frame_Shift_Del_p.L47fs|WNT2B_uc009wgg.2_5'UTR	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	66					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-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)		TTGGGGCACTGGGGGCACGAG	0.567													-	113057511	G	-	113057511	7	5	273	1	0	1	0	1	0	0	0	0	17384	1335	47	0	337	0	WNT2B	1	113057511	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1841510	113057511	136193110	99	137396											
PTPN22	26191	broad.mit.edu	37	chr1	114401660	114401660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtagctggaatcctcAtcagaggttatcagggatag	12	6	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:114401660A>G	uc001eds.2	-	3	367	c.237T>C	c.(235-237)GAT>GAC	p.D79D	uc001edv.1_Intron|PTPN22_uc009wgq.2_Silent_p.D79D|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Silent_p.D79D|PTPN22_uc009wgr.2_Silent_p.D79D|PTPN22_uc009wgs.2_Silent_p.D79D|PTPN22_uc001edu.2_Silent_p.D79D	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	79	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAATCCTCATCAGAGGTTA	0.368													G	114401660	A	G	114401660	2	3	273	1	0	0	0	0	0	0	0	1	12787	214	8	3		3	PTPN22	1	114401660	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1344149	114401660	134848961	100	137397											
ATP1A1	476	broad.mit.edu	37	chr1	116935565	116935565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagatgagagaaagataCgccaaaatcgtcgagatacc	11	7	0	5	rs140751331	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:116935565C>T	uc001ege.2	+	11	1761	c.1422C>T	c.(1420-1422)TAC>TAT	p.Y474Y	ATP1A1_uc010owv.1_Silent_p.Y443Y|ATP1A1_uc010oww.1_Silent_p.Y474Y|ATP1A1_uc010owx.1_Silent_p.Y443Y|C1orf203_uc009whb.2_RNA	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	474	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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)	GAGAAAGATACGCCAAAATCG	0.532													T	116935565	C	T	116935565	2	4	273	1	0	0	0	0	0	0	0	1	1128	547	19	1		1	ATP1A1	1	116935565	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2533905	116935565	132315056	101	137398											
ATP1A1	476	broad.mit.edu	37	chr1	116941581	116941581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgataacttgaagaaaTccattgcttataccttaacc	4	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:116941581T>C	uc001ege.2	+	17	2662	c.2323T>C	c.(2323-2325)TCC>CCC	p.S775P	ATP1A1_uc010owv.1_Missense_Mutation_p.S744P|ATP1A1_uc010oww.1_Missense_Mutation_p.S775P|ATP1A1_uc010owx.1_Missense_Mutation_p.S744P|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	775	Helical; (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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)	CTTGAAGAAATCCATTGCTTA	0.393													C	116941581	T	C	116941581	3	2	273	1	0	0	0	0	1	0	0	0	1128	1435	50	3	2405	3	ATP1A1	1	116941581	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6016	116941581	132309040	102	137399											
IGSF3	3321	broad.mit.edu	37	chr1	117127587	117127587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaggttatgctggtgCggttgagaaccacacactcc	14	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:117127587C>T	uc001egr.1	-	9	3233	c.2528G>A	c.(2527-2529)CGC>CAC	p.R843H	IGSF3_uc001egq.1_Missense_Mutation_p.R863H|IGSF3_uc001egs.1_Missense_Mutation_p.R516H	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	843	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		TATGCTGGTGCGGTTGAGAAC	0.607													T	117127587	C	T	117127587	3	4	273	1	0	0	0	0	1	0	0	0	7601	768	27	1	1068	1	IGSF3	1	117127587	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	186006	117127587	132123034	103	137400											
CD101	9398	broad.mit.edu	37	chr1	117554394	117554394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccttgtatacagagcGgtttgcagccagtgacgtac	13	10	0	2	rs34397029		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:117554394G>A	uc010oxb.1	+	3	705	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	CD101_uc009whd.2_Missense_Mutation_p.R216Q|CD101_uc010oxc.1_Missense_Mutation_p.R216Q|CD101_uc010oxd.1_Missense_Mutation_p.R154Q	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	216	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TATACAGAGCGGTTTGCAGCC	0.502													A	117554394	G	A	117554394	3	1	273	1	0	0	0	0	1	0	0	0	2962	1116	39	1	657	1	CD101	1	117554394	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	426807	117554394	131696227	104	137401											
ADAM30	11085	broad.mit.edu	37	chr1	120437823	120437823	+	Frame_Shift_Del	DEL	A	A	-													gctcccgaagagatatgtttAaaaaaagagatataactgca					rs139123456		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:120437823delA	uc001eij.2	-	1	1291	c.1137delT	c.(1135-1137)TTTfs	p.F379fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	379	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	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)		AGATATGTTTAAAAAAAGAGA	0.398													-	120437823	A	-	120437823	7	5	273	1	0	1	0	1	0	0	0	0	248	359	13	0	1239	0	ADAM30	1	120437823	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	2883429	120437823	128812798	105	137402											
HFE2	148738	broad.mit.edu	37	chr1	145416863	145416863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctcagatgctggggTtcctctttcctcagcaaccc	7	17	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:145416863T>C	uc001eni.2	+	4	1533	c.1208T>C	c.(1207-1209)GTT>GCT	p.V403A	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.V177A|HFE2_uc001enk.2_Missense_Mutation_p.V290A|HFE2_uc001enl.2_Missense_Mutation_p.V177A	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	403					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCTGGGGTTCCTCTTTCC	0.532													C	145416863	T	C	145416863	3	2	273	1	0	0	0	0	1	0	0	0	7082	1725	60	3	1218	3	HFE2	1	145416863	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	24979040	145416863	103833758	106	137403											
PIAS3	10401	broad.mit.edu	37	chr1	145579269	145579269	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgagaccagctgcccCcaggaagattattttccccc	8	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:145579269C>A	uc001eoc.1	+	5	697	c.606C>A	c.(604-606)CCC>CCA	p.P202P	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Silent_p.P193P|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	202	PINIT.				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			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGCTGCCCCCAGGAAGATT	0.478													A	145579269	C	A	145579269	2	1	273	1	0	0	0	0	0	0	0	1	11877	610	22	5		5	PIAS3	1	145579269	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	162406	145579269	103671352	107	137404											
GJA5	2702	broad.mit.edu	37	chr1	147231067	147231067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgtgcatggcgtggcCcatgtacaccagagagggcg	15	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:147231067C>A	uc001eps.1	-	2	421	c.280G>T	c.(280-282)GGC>TGC	p.G94C	GJA5_uc001ept.1_Missense_Mutation_p.G94C	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	94	Helical; (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ATGGCGTGGCCCATGTACACC	0.607													A	147231067	C	A	147231067	3	1	273	1	0	0	0	0	1	0	0	0	6404	623	22	5	800	5	GJA5	1	147231067	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1651798	147231067	102019554	108	137405											
SV2A	9900	broad.mit.edu	37	chr1	149884981	149884981	+	Frame_Shift_Del	DEL	C	C	-													ttctttccgtcgttgtgcctCcccccggcccccagggggac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:149884980_149884980TC>T	uc001etg.3	-	1	904	c.413_413GA>A	c.(412-414)gagfs	p.E138fs	SV2A_uc001eth.2_Frame_Shift_Del_p.E138fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	138					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.G137W(1)		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)	TCGTTGTGCCTCCCCCCGGCC	0.637													-	149884981	C	-	149884981	7	5	273	1	0	1	0	1	0	0	0	0	15414	864	30	0	1864	0	SV2A	1	149884981	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	2653914	149884981	99365640	109	137406											
OTUD7B	56957	broad.mit.edu	37	chr1	149943026	149943026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgccgctggaggatgggtCggggagggcgagtaggctct	20	9	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:149943026C>T	uc001etn.2	-	3	595	c.239G>A	c.(238-240)CGA>CAA	p.R80Q	OTUD7B_uc001eto.2_Missense_Mutation_p.D46N	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	80					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	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)			GAGGATGGGTCGGGGAGGGCG	0.547													T	149943026	C	T	149943026	3	4	273	1	0	0	0	0	1	0	0	0	11319	884	31	1	2332	1	OTUD7B	1	149943026	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	58045	149943026	99307595	110	137407											
PRPF3	9129	broad.mit.edu	37	chr1	150300845	150300845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagaagcgacgaatacccCgttttgaggaggtggaagaa	13	6	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150300845C>T	uc001eum.3	+	4	505	c.343C>T	c.(343-345)CGT>TGT	p.R115C	PRPF3_uc009wlo.2_Missense_Mutation_p.R115C|PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.R74C|PRPF3_uc010pcb.1_Intron	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	115					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	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)		ACGAATACCCCGTTTTGAGGA	0.493													T	150300845	C	T	150300845	3	4	273	1	0	0	0	0	1	0	0	0	12565	652	23	1	353	1	PRPF3	1	150300845	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	357819	150300845	98949776	111	137408											
TARS2	80222	broad.mit.edu	37	chr1	150476902	150476902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgagatttgacctccAgtataaggggtataaaacct	9	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150476902A>G	uc001euq.2	+	14	1716	c.1709A>G	c.(1708-1710)CAG>CGG	p.Q570R	TARS2_uc001eur.2_Missense_Mutation_p.Q488R|TARS2_uc009wlt.2_Missense_Mutation_p.Q196R|TARS2_uc009wls.2_Missense_Mutation_p.Q440R	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	570					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	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)	TTTGACCTCCAGTATAAGGGG	0.507													G	150476902	A	G	150476902	3	3	273	1	0	0	0	0	1	0	0	0	15557	188	7	3	1763	3	TARS2	1	150476902	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	176057	150476902	98773719	112	137409											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531044	150531044	+	Frame_Shift_Del	DEL	C	C	-													gagcaggagtgtgcgtcaggCcccccgcagccccccagcag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150531044delC	uc001eux.2	+	15	2714	c.2478delC	c.(2476-2478)GGCfs	p.G826fs	ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.G826fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.G849fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.G787fs|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	826	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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)			GTGCGTCAGGCCCCCCGCAGC	0.662													-	150531044	C	-	150531044	7	5	273	1	0	1	0	1	0	0	0	0	277	726	26	0	2528	0	ADAMTSL4	1	150531044	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	54142	150531044	98719577	113	137410											
MCL1	4170	broad.mit.edu	37	chr1	150549866	150549866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggctatcttattagataTgccaaaccagctcctactcc	5	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150549866T>C	uc001euz.2	-	3	1168	c.1038A>G	c.(1036-1038)GCA>GCG	p.A346A	MCL1_uc010pch.1_Silent_p.A236A|MCL1_uc001eva.2_Missense_Mutation_p.I264V	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	346	Helical; (Potential).				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				0	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)			TTATTAGATATGCCAAACCAG	0.458													C	150549866	T	C	150549866	2	2	273	1	0	0	0	0	0	0	0	1	9384	1464	51	3		3	MCL1	1	150549866	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	18822	150549866	98700755	114	137411											
SEMA6C	10500	broad.mit.edu	37	chr1	151105901	151105901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggccagagactgaggCgcccagggcaaaagctgcgg	17	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151105901C>T	uc001ewu.2	-	19	2152	c.1852G>A	c.(1852-1854)GCC>ACC	p.A618T	SEMA6C_uc001ewv.2_Missense_Mutation_p.A650T|SEMA6C_uc001eww.2_Missense_Mutation_p.A610T|SEMA6C_uc010pcq.1_Intron	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	618	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			GAGACTGAGGCGCCCAGGGCA	0.726													T	151105901	C	T	151105901	3	4	273	1	0	0	0	0	1	0	0	0	14041	768	27	1	944	1	SEMA6C	1	151105901	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	556035	151105901	98144720	115	137412											
SEMA6C	10500	broad.mit.edu	37	chr1	151108103	151108103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaatctcttccaggaggAtgggctcaggtcccccggat	11	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151108103A>G	uc001ewu.2	-	14	1697	c.1397T>C	c.(1396-1398)ATC>ACC	p.I466T	SEMA6C_uc001ewv.2_Missense_Mutation_p.I466T|SEMA6C_uc001eww.2_Missense_Mutation_p.I426T|SEMA6C_uc010pcq.1_Missense_Mutation_p.I466T	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	466	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			TTCCAGGAGGATGGGCTCAGG	0.617													G	151108103	A	G	151108103	3	3	273	1	0	0	0	0	1	0	0	0	14041	333	12	3	1519	3	SEMA6C	1	151108103	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2202	151108103	98142518	116	137413											
RFX5	5993	broad.mit.edu	37	chr1	151314786	151314786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgccaaaggaaaagccTccttttggcttctgctgccc	8	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151314786T>C	uc001exv.1	-	11	1941	c.1727A>G	c.(1726-1728)GAG>GGG	p.E576G	RFX5_uc001exw.1_Missense_Mutation_p.E576G|RFX5_uc009wmr.1_Missense_Mutation_p.E576G|RFX5_uc010pcx.1_Missense_Mutation_p.E536G	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	576						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	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)			AGGAAAAGCCTCCTTTTGGCT	0.483													C	151314786	T	C	151314786	3	2	273	1	0	0	0	0	1	0	0	0	13266	1551	54	3	127	3	RFX5	1	151314786	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	206683	151314786	97935835	117	137414											
SELENBP1	8991	broad.mit.edu	37	chr1	151341935	151341935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctggcaatactggggagActtggggtcaacatccacag	12	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151341935A>G	uc001exx.2	-	3	204	c.157T>C	c.(157-159)TCT>CCT	p.S53P	SELENBP1_uc010pcy.1_Missense_Mutation_p.S95P|SELENBP1_uc001exy.2_5'UTR|SELENBP1_uc001exz.2_5'UTR|SELENBP1_uc010pcz.1_Missense_Mutation_p.S53P|SELENBP1_uc009wms.2_5'UTR|SELENBP1_uc009wmt.2_5'UTR|SELENBP1_uc001eya.2_5'UTR|SELENBP1_uc009wmu.2_5'UTR	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	53					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	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)			TACTGGGGAGACTTGGGGTCA	0.602													G	151341935	A	G	151341935	3	3	273	1	0	0	0	0	1	0	0	0	14014	275	10	3	1301	3	SELENBP1	1	151341935	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	27149	151341935	97908686	118	137415											
LINGO4	339398	broad.mit.edu	37	chr1	151774033	151774033	+	Frame_Shift_Del	DEL	G	G	-													gatgggggccagcacaggcaGggggggacatgccaaagtcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151774032_151774032AG>A	uc001ezf.1	-	1	1339	c.1149_1149CT>T	c.(1147-1149)cctfs	p.P383fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.P383fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	383	LRRCT.					integral to membrane		p.P383T(1)		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)			CAGCACAGGCAGGGGGGGACA	0.627													-	151774033	G	-	151774033	7	5	273	1	0	1	0	1	0	0	0	0	8817	1000	35	0	637	0	LINGO4	1	151774033	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	432098	151774033	97476588	119	137416											
PBXIP1	57326	broad.mit.edu	37	chr1	154926189	154926189	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattatcagagtctgggcaGgaggccatagttgctgaggt	14	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:154926189G>T	uc001ffr.2	-	2	68	c.9C>A	c.(7-9)TCC>TCA	p.S3S	PBXIP1_uc001ffs.2_Intron|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	3					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	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)			AGTCTGGGCAGGAGGCCATAG	0.602													T	154926189	G	T	154926189	2	4	273	1	0	0	0	0	0	0	0	1	11496	987	35	5		5	PBXIP1	1	154926189	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3152156	154926189	94324432	120	137417											
ADAM15	8751	broad.mit.edu	37	chr1	155029473	155029473	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcctcctccatagcccaTgagttgggccacagcctggg	12	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155029473T>C	uc001fgr.1	+	11	1145	c.1044T>C	c.(1042-1044)CAT>CAC	p.H348H	ADAM15_uc001fgq.1_Silent_p.H33H|ADAM15_uc010pet.1_Silent_p.H332H|ADAM15_uc010peu.1_Silent_p.H365H|ADAM15_uc001fgt.1_Silent_p.H348H|ADAM15_uc010pev.1_Silent_p.H358H|ADAM15_uc001fgs.1_Silent_p.H348H|ADAM15_uc001fgu.1_Silent_p.H348H|ADAM15_uc001fgw.1_Silent_p.H348H|ADAM15_uc001fgv.1_Silent_p.H348H|ADAM15_uc001fgx.1_Silent_p.H348H|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	348	Peptidase M12B.|Extracellular (Potential).	Zinc; catalytic (By similarity).			angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	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)			CCATAGCCCATGAGTTGGGCC	0.622													C	155029473	T	C	155029473	2	2	273	1	0	0	0	0	0	0	0	1	237	1461	51	3		3	ADAM15	1	155029473	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	103284	155029473	94221148	121	137418											
TRIM46	80128	broad.mit.edu	37	chr1	155152179	155152179	+	Frame_Shift_Del	DEL	C	C	-													tcttcctgtgctggcggctgCccccccattcaccacctgcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155152178_155152178GC>G	uc001fhs.1	+	7	1439	c.1356_1356GC>G	c.(1354-1356)ctgfs	p.L452fs	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.L452fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Del_p.L326fs|TRIM46_uc001fhu.1_Frame_Shift_Del_p.L429fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.L439fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	452	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGCTGCCCCCCCATT	0.647													-	155152179	C	-	155152179	7	5	273	1	0	1	0	1	0	0	0	0	16518	739	26	0	1387	0	TRIM46	1	155152179	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	122706	155152179	94098442	122	137419											
RUSC1	23623	broad.mit.edu	37	chr1	155300268	155300268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgtggggaagtgctgcGtgtcatcaccacagtggatg	16	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155300268G>A	uc001fkj.2	+	10	2844	c.2615G>A	c.(2614-2616)CGT>CAT	p.R872H	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.R766H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.R403H|RUSC1_uc001fkl.2_Missense_Mutation_p.R462H|RUSC1_uc001fkp.2_Missense_Mutation_p.R403H|RUSC1_uc001fkq.2_Missense_Mutation_p.R297H|RUSC1_uc010pgb.1_Missense_Mutation_p.R370H|RUSC1_uc009wqp.1_Missense_Mutation_p.R397H|RUSC1_uc001fkn.2_Missense_Mutation_p.R181H|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.R403H|RUSC1_uc001fks.2_Missense_Mutation_p.R139H	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	872	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	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)			GAAGTGCTGCGTGTCATCACC	0.612													A	155300268	G	A	155300268	3	1	273	1	0	0	0	0	1	0	0	0	13750	1145	40	1	2780	1	RUSC1	1	155300268	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	148089	155300268	93950353	123	137420											
ASH1L	55870	broad.mit.edu	37	chr1	155449752	155449753	+	Frame_Shift_Ins	INS	-	-	T													tccattgtttctcttggtaaINStttttttatctggttccatc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155449752_155449753insT	uc009wqq.2	-	3	3388_3389	c.2908_2909insA	c.(2908-2910)ATTfs	p.I970fs	ASH1L_uc001fkt.2_Frame_Shift_Ins_p.I970fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.I970fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	970					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TCTCTTGGTAATTTTTTTATCT	0.351													T	155449753	-	T	155449752	7	5	273	1	0	1	1	0	0	0	0	0	1041	101	4	0	6089	0	ASH1L	1	155449752	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	149484	155449752	93800869	124	137421	711	2									
ASH1L	55870	broad.mit.edu	37	chr1	155449753	155449754	+	Frame_Shift_Ins	INS	-	-	T													ccattgtttctcttggtaatINSttttttatctggttccatct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155449752_155449753A>AT	uc009wqq.3	-	2	3388_3389	c.2908_2909T>AT	c.(2908-2910)attfs	p.I970fs	ASH1L_uc001fkt.3_Frame_Shift_Ins_p.I970fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.I970fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	970					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|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)			TCTCTTGGTAATTTTTTTATCT	0.351													T	155449754	-	T	155449753	7	5	273	1	0	1	1	0	0	0	0	0	1041	1493	52	0	6090	0	ASH1L	1	155449753	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	155449753	93800868	125	137422	711	2									
ASH1L	55870	broad.mit.edu	37	chr1	155451418	155451418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctttactgatcagacCtgccaaaggacaactcatta	7	11	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155451418C>A	uc009wqq.2	-	3	1723	c.1243G>T	c.(1243-1245)GGT>TGT	p.G415C	ASH1L_uc001fkt.2_Missense_Mutation_p.G415C|ASH1L_uc009wqr.1_Missense_Mutation_p.G415C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	415					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			CTGATCAGACCTGCCAAAGGA	0.433													A	155451418	C	A	155451418	3	1	273	1	0	0	0	0	1	0	0	0	1041	681	24	5	7755	5	ASH1L	1	155451418	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1665	155451418	93799203	126	137423											
YY1AP1	55249	broad.mit.edu	37	chr1	155630091	155630091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgatacagcgaaaggccCtggctccccttctttttgag	10	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155630091C>T	uc001fln.2	-	11	1772	c.1748G>A	c.(1747-1749)AGG>AAG	p.R583K	YY1AP1_uc001flg.2_Missense_Mutation_p.R322K|YY1AP1_uc010pgg.1_Missense_Mutation_p.R422K|YY1AP1_uc010pgh.1_Missense_Mutation_p.R526K|YY1AP1_uc010pgi.1_Missense_Mutation_p.R675K|YY1AP1_uc001flh.2_Missense_Mutation_p.R655K|YY1AP1_uc009wqt.2_Missense_Mutation_p.R506K|YY1AP1_uc001flk.2_Missense_Mutation_p.R526K|YY1AP1_uc001fll.2_Missense_Mutation_p.R537K|YY1AP1_uc009wqv.2_Missense_Mutation_p.R254K|YY1AP1_uc001flm.2_Missense_Mutation_p.R526K|YY1AP1_uc001fli.2_Missense_Mutation_p.R537K|YY1AP1_uc009wqu.2_Missense_Mutation_p.R370K|YY1AP1_uc001flj.2_Missense_Mutation_p.R517K|YY1AP1_uc009wqw.2_Missense_Mutation_p.R506K|YY1AP1_uc001flo.2_Missense_Mutation_p.R471K|YY1AP1_uc001flp.2_Missense_Mutation_p.R537K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	583					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCGAAAGGCCCTGGCTCCCCT	0.537													T	155630091	C	T	155630091	3	4	273	1	0	0	0	0	1	0	0	0	17505	681	24	4	646	4	YY1AP1	1	155630091	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	178673	155630091	93620530	127	137424											
ROBLD3	28956	broad.mit.edu	37	chr1	156024741	156024741	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaacactggaggcgtccagAgcaccctgtgagtgcagacc	12	14	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:156024741A>C	uc001fnb.3	+	1	225	c.61A>C	c.(61-63)AGC>CGC	p.S21R	UBQLN4_uc001fna.2_5'Flank|UBQLN4_uc010pgx.1_5'Flank|ROBLD3_uc010pgy.1_Missense_Mutation_p.S21R	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN	roadblock domain-containing protein 3 isoform 1	21					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex					0						AGGCGTCCAGAGCACCCTGTG	0.662													C	156024741	A	C	156024741	3	2	273	1	0	0	0	0	1	0	0	0	13512	304	11	5	63	5	ROBLD3	1	156024741	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	394650	156024741	93225880	128	137425											
NES	10763	broad.mit.edu	37	chr1	156639860	156639860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaaaggtgcctcagTccccaggtcctcaaattctt	9	11	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:156639860T>C	uc001fpq.2	-	4	4253	c.4120A>G	c.(4120-4122)ACT>GCT	p.T1374A		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1374	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			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTGCCTCAGTCCCCAGGTCC	0.522													C	156639860	T	C	156639860	3	2	273	1	0	0	0	0	1	0	0	0	10337	1667	58	3	749	3	NES	1	156639860	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	615119	156639860	92610761	129	137426											
CD5L	922	broad.mit.edu	37	chr1	157805716	157805716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttctgttcctgtgcaActgactgattggatgaggac	11	8	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:157805716A>C	uc001frk.3	-	3	428	c.285T>G	c.(283-285)AGT>AGG	p.S95R		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	95	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCTGTGCAACTGACTGATT	0.493													C	157805716	A	C	157805716	3	2	273	1	0	0	0	0	1	0	0	0	3027	40	2	5	774	5	CD5L	1	157805716	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1165856	157805716	91444905	130	137427											
OR6K2	81448	broad.mit.edu	37	chr1	158670020	158670020	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcaacttaaagtcagttgGgtacatagcttgggggtcat	12	7	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:158670020G>T	uc001fsu.1	-	1	423	c.423C>A	c.(421-423)ACC>ACA	p.T141T		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					AAGTCAGTTGGGTACATAGCT	0.473													T	158670020	G	T	158670020	2	4	273	1	0	0	0	0	0	0	0	1	11202	1219	43	5		5	OR6K2	1	158670020	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	864304	158670020	90580601	131	137428											
CADM3	57863	broad.mit.edu	37	chr1	159170641	159170641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgacgatgctccagacGcggacacggccatcatcaat	10	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:159170641G>A	uc001ftl.2	+	9	1268	c.1126G>A	c.(1126-1128)GCG>ACG	p.A376T	CADM3_uc001ftk.2_Missense_Mutation_p.A410T|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	376	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					TGCTCCAGACGCGGACACGGC	0.577													A	159170641	G	A	159170641	3	1	273	1	0	0	0	0	1	0	0	0	2568	1087	38	1	1266	1	CADM3	1	159170641	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	500621	159170641	90079980	132	137429											
KCNJ10	3766	broad.mit.edu	37	chr1	160011281	160011281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcagggtctccgtagcGtacagtgctgtcacggaggc	13	11	3	0	rs137853074		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:160011281G>A	uc001fuw.1	-	2	1192	c.1042C>T	c.(1042-1044)CGC>TGC	p.R348C		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	348	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCCGTAGCGTACAGTGCTG	0.507													A	160011281	G	A	160011281	3	1	273	1	0	0	0	0	1	0	0	0	8044	1145	40	1	101	1	KCNJ10	1	160011281	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	840640	160011281	89239340	133	137430											
COPA	1314	broad.mit.edu	37	chr1	160261218	160261219	+	Frame_Shift_Ins	INS	-	-	GA													tgagcttgaagaacagattgINSagggctgtacgcagcaccag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:160261217_160261218T>TGA	uc001fvv.4	-	30	3748_3749	c.3354_3355A>TCA	c.(3352-3357)ctcaatfs	p.L1118fs	COPA_uc009wti.3_Frame_Shift_Ins_p.L1109fs	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1109					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	p.N1119D(1)|p.N1110D(1)		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)			AAGAACAGATTGAGGGCTGTAC	0.545											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GA	160261219	-	GA	160261218	7	5	273	1	0	1	1	0	0	0	0	0	3727	1277	45	0	359	0	COPA	1	160261218	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	249937	160261218	88989403	134	137431											
ITLN2	142683	broad.mit.edu	37	chr1	160915016	160915016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatatccatcccagtcaaAggcggagaagtccccacact	7	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:160915016A>G	uc001fxd.2	-	8	950	c.892T>C	c.(892-894)TTT>CTT	p.F298L	ITLN2_uc009wts.2_Missense_Mutation_p.F297L|ITLN2_uc010pju.1_Missense_Mutation_p.F215L	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	298					signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCCAGTCAAAGGCGGAGAAG	0.532													G	160915016	A	G	160915016	3	3	273	1	0	0	0	0	1	0	0	0	7911	72	3	3	89	3	ITLN2	1	160915016	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	653798	160915016	88335605	135	137432											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163162	161163162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaggcagcacactgctcCtcgcggaaggtcagggctgg	15	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:161163162C>A	uc001fyt.3	-	7	2180	c.1752G>T	c.(1750-1752)GAG>GAT	p.E584D		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	584	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACACTGCTCCTCGCGGAAGG	0.622													A	161163162	C	A	161163162	3	1	273	1	0	0	0	0	1	0	0	0	268	680	24	5	773	5	ADAMTS4	1	161163162	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	248146	161163162	88087459	136	137433											
DDR2	4921	broad.mit.edu	37	chr1	162724999	162724999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaaaggacttggagccGcccattgtagccagatttgt	10	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:162724999G>A	uc001gcf.2	+	7	936	c.471G>A	c.(469-471)CCG>CCA	p.P157P	DDR2_uc001gcg.2_Silent_p.P157P	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	157	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTTGGAGCCGCCCATTGTAG	0.478													A	162724999	G	A	162724999	2	1	273	1	0	0	0	0	0	0	0	1	4337	1074	38	1		1	DDR2	1	162724999	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1561837	162724999	86525622	137	137434											
RGS4	5999	broad.mit.edu	37	chr1	163042651	163042651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaacctgattagtcAtgaatgtaagtctgacagca	9	7	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:163042651A>G	uc009wuy.2	+	3	717	c.206A>G	c.(205-207)CAT>CGT	p.H69R	RGS4_uc001gcl.3_Missense_Mutation_p.H166R|RGS4_uc009wuz.2_Missense_Mutation_p.H69R|RGS4_uc009wva.2_Missense_Mutation_p.H51R	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	69	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						CTGATTAGTCATGAATGTAAG	0.408													G	163042651	A	G	163042651	3	3	273	1	0	0	0	0	1	0	0	0	13307	217	8	3	511	3	RGS4	1	163042651	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	317652	163042651	86207970	138	137435											
ADCY10	55811	broad.mit.edu	37	chr1	167823708	167823708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtaaaatggaatcccacAgcttccctcccccaggtacc	6	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:167823708A>C	uc001ger.2	-	18	2489	c.2191T>G	c.(2191-2193)TGT>GGT	p.C731G	ADCY10_uc009wvk.2_Missense_Mutation_p.C639G|ADCY10_uc010plj.1_Missense_Mutation_p.C578G|ADCY10_uc009wvl.2_Missense_Mutation_p.C730G	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	731					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						GGAATCCCACAGCTTCCCTCC	0.393													C	167823708	A	C	167823708	3	2	273	1	0	0	0	0	1	0	0	0	293	188	7	5	2705	5	ADCY10	1	167823708	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4781057	167823708	81426913	139	137436											
ADCY10	55811	broad.mit.edu	37	chr1	167849742	167849742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactcactggattttgtggaCttgagagcagaagtcaaata	10	6	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:167849742C>A	uc001ger.2	-	10	1424	c.1126G>T	c.(1126-1128)GTC>TTC	p.V376F	ADCY10_uc009wvk.2_Missense_Mutation_p.V284F|ADCY10_uc010plj.1_Missense_Mutation_p.V223F|ADCY10_uc009wvl.2_Missense_Mutation_p.V375F|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	376	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						ATTTTGTGGACTTGAGAGCAG	0.502													A	167849742	C	A	167849742	3	1	273	1	0	0	0	0	1	0	0	0	293	565	20	5	3802	5	ADCY10	1	167849742	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	26034	167849742	81400879	140	137437											
TBX19	9095	broad.mit.edu	37	chr1	168274409	168274409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccctacccttctgcgtaCatgcacagaaaccattctcc	5	17	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:168274409C>T	uc001gfl.2	+	6	942	c.891C>T	c.(889-891)TAC>TAT	p.Y297Y	TBX19_uc001gfj.3_Intron|TBX19_uc001gfm.2_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	297					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					CTTCTGCGTACATGCACAGAA	0.582													T	168274409	C	T	168274409	2	4	273	1	0	0	0	0	0	0	0	1	15651	489	17	4		4	TBX19	1	168274409	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	424667	168274409	80976212	141	137438											
XCL2	6846	broad.mit.edu	37	chr1	168511329	168511329	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acacaggtcctcctatgtgaGacttcactccctacacctga	6	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:168511329G>C	uc001gfn.3	-	2	111	c.78C>G	c.(76-78)GTC>GTG	p.V26V		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2 precursor	26					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			ovary(1)	1	all_hematologic(923;0.215)					TCCTATGTGAGACTTCACTCC	0.438													C	168511329	G	C	168511329	2	2	273	1	0	0	0	0	0	0	0	1	17421	929	33	5		5	XCL2	1	168511329	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	236920	168511329	80739292	142	137439											
BAT2L2	23215	broad.mit.edu	37	chr1	171510625	171510625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttcttcctaaaggagaGcctacaaggagaggcagagg	14	8	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:171510625G>A	uc010pmg.1	+	16	4280	c.4014G>A	c.(4012-4014)GAG>GAA	p.E1338E	BAT2L2_uc010pmh.1_Silent_p.E315E	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1338							protein C-terminus binding				0						CTAAAGGAGAGCCTACAAGGA	0.488													A	171510625	G	A	171510625	2	1	273	1	0	0	0	0	0	0	0	1	1321	962	34	2		2	BAT2L2	1	171510625	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2999296	171510625	77739996	143	137440											
TNN	63923	broad.mit.edu	37	chr1	175092640	175092640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaagtacatggtgcgcTacacctctgctgacggagag	12	10	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:175092640T>C	uc001gkl.1	+	12	2868	c.2755T>C	c.(2755-2757)TAC>CAC	p.Y919H		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	919	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CATGGTGCGCTACACCTCTGC	0.592													C	175092640	T	C	175092640	3	2	273	1	0	0	0	0	1	0	0	0	16320	1522	53	3	2797	3	TNN	1	175092640	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3582015	175092640	74157981	144	137441											
FAM5B	57795	broad.mit.edu	37	chr1	177245416	177245416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacatgcagctctgagggTgagctcgtctgcaaggagaa	13	9	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:177245416T>C	uc001glf.2	+	6	1170	c.858T>C	c.(856-858)GGT>GGC	p.G286G	FAM5B_uc010pna.1_Silent_p.G36G|FAM5B_uc001glg.2_Silent_p.G181G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	286						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCTCTGAGGGTGAGCTCGTCT	0.577													C	177245416	T	C	177245416	2	2	273	1	0	0	0	0	0	0	0	1	5593	1683	59	3		3	FAM5B	1	177245416	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2152776	177245416	72005205	145	137442											
STX6	10228	broad.mit.edu	37	chr1	180953905	180953905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagagaaatcttccaacAtactagagagaagcagacac	9	9	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:180953905A>G	uc010pnq.1	-	7	836	c.599T>C	c.(598-600)ATG>ACG	p.M200T	STX6_uc001goo.2_Missense_Mutation_p.M200T|STX6_uc010pnr.1_Missense_Mutation_p.M99T	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	200	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						ATCTTCCAACATACTAGAGAG	0.458													G	180953905	A	G	180953905	3	3	273	1	0	0	0	0	1	0	0	0	15348	217	8	3	176	3	STX6	1	180953905	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3708489	180953905	68296716	146	137443											
CACNA1E	777	broad.mit.edu	37	chr1	181693655	181693655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggataatctcgccaaCgcccaggaactgaccaaggt	11	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:181693655C>T	uc001gow.2	+	17	2289	c.2124C>T	c.(2122-2124)AAC>AAT	p.N708N	CACNA1E_uc009wxs.2_Silent_p.N615N	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	708	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ATCTCGCCAACGCCCAGGAAC	0.468													T	181693655	C	T	181693655	2	4	273	1	0	0	0	0	0	0	0	1	2542	535	19	1		1	CACNA1E	1	181693655	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	739750	181693655	67556966	147	137444											
CACNA1E	777	broad.mit.edu	37	chr1	181695292	181695292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgcacccaacatgccttCgatcgagtgagtcagctgcc	10	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:181695292C>T	uc001gow.2	+	18	2399	c.2234C>T	c.(2233-2235)TCG>TTG	p.S745L	CACNA1E_uc009wxs.2_Missense_Mutation_p.S652L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	745	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AACATGCCTTCGATCGAGTGA	0.433													T	181695292	C	T	181695292	3	4	273	1	0	0	0	0	1	0	0	0	2542	893	31	1	2304	1	CACNA1E	1	181695292	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1637	181695292	67555329	148	137445											
PRG4	10216	broad.mit.edu	37	chr1	186276739	186276739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcacgcccaccacccccGagaagctcgcacccaccacc	6	23	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:186276739G>A	uc001gru.3	+	7	1939	c.1888G>A	c.(1888-1890)GAG>AAG	p.E630K	PRG4_uc001grt.3_Missense_Mutation_p.E589K|PRG4_uc009wyl.2_Missense_Mutation_p.E537K|PRG4_uc009wym.2_Missense_Mutation_p.E496K|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	630	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			skin(1)	1						CACCACCCCCGAGAAGCTCGC	0.672													A	186276739	G	A	186276739	3	1	273	1	0	0	0	0	1	0	0	0	12481	1059	37	1	1910	1	PRG4	1	186276739	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4581447	186276739	62973882	149	137446											
PRG4	10216	broad.mit.edu	37	chr1	186276818	186276818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaccacccctgaggagcCcacacccaccacccctgagg	7	22	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:186276818C>T	uc001gru.3	+	7	2018	c.1967C>T	c.(1966-1968)CCC>CTC	p.P656L	PRG4_uc001grt.3_Missense_Mutation_p.P615L|PRG4_uc009wyl.2_Missense_Mutation_p.P563L|PRG4_uc009wym.2_Missense_Mutation_p.P522L|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	656	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			skin(1)	1						CCTGAGGAGCCCACACCCACC	0.677													T	186276818	C	T	186276818	3	4	273	1	0	0	0	0	1	0	0	0	12481	623	22	4	1989	4	PRG4	1	186276818	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	79	186276818	62973803	150	137447											
TPR	7175	broad.mit.edu	37	chr1	186301402	186301402	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatcatcagagacttggtcTgatgcttctatggtgctatc	10	8	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:186301402T>C	uc001grv.2	-	38	5826	c.5529A>G	c.(5527-5529)TCA>TCG	p.S1843S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1843					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			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		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)		AGACTTGGTCTGATGCTTCTA	0.408			T	NTRK1	papillary thyroid								C	186301402	T	C	186301402	2	2	273	1	0	0	0	0	0	0	0	1	16413	1567	55	3		3	TPR	1	186301402	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	24584	186301402	62949219	151	137448											
TROVE2	6738	broad.mit.edu	37	chr1	193051754	193051754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaagacaaacacaccTgctgatgtcttcattgtatt	7	10	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:193051754T>C	uc001gss.2	+	8	1555	c.1380T>C	c.(1378-1380)CCT>CCC	p.P460P	TROVE2_uc001gst.1_Silent_p.P185P|TROVE2_uc001gsu.1_Silent_p.P185P|TROVE2_uc001gsv.1_Silent_p.P460P|TROVE2_uc001gsw.2_Silent_p.P460P|TROVE2_uc009wyp.2_Silent_p.P460P|TROVE2_uc009wyq.2_Silent_p.P460P|TROVE2_uc001gsx.1_Silent_p.P460P	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	460					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						CAAACACACCTGCTGATGTCT	0.403													C	193051754	T	C	193051754	2	2	273	1	0	0	0	0	0	0	0	1	16573	1567	55	3		3	TROVE2	1	193051754	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6750352	193051754	56198867	152	137449											
CFH	3075	broad.mit.edu	37	chr1	196709878	196709878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgatgggcctgcaattgCaaaatgcttaggagaaaaat	10	5	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:196709878C>T	uc001gtj.3	+	18	3152	c.2912C>T	c.(2911-2913)GCA>GTA	p.A971V		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	971	Sushi 16.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CCTGCAATTGCAAAATGCTTA	0.353													T	196709878	C	T	196709878	3	4	273	1	0	0	0	0	1	0	0	0	3283	710	25	2	3000	2	CFH	1	196709878	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3658124	196709878	52540743	153	137450											
CRB1	23418	broad.mit.edu	37	chr1	197390846	197390846	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggtgttgctctgcttaacTtctataatatgccatccaca	6	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:197390846T>G	uc001gtz.2	+	6	2023	c.1888T>G	c.(1888-1890)TTC>GTC	p.F630V	CRB1_uc010poz.1_Missense_Mutation_p.F561V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F518V|CRB1_uc010ppb.1_Missense_Mutation_p.F630V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F111V|CRB1_uc001gub.1_Missense_Mutation_p.F279V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	630	Extracellular (Potential).|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			ovary(5)|skin(3)|large_intestine(1)	9						TCTGCTTAACTTCTATAATAT	0.418													G	197390846	T	G	197390846	3	3	273	1	0	0	0	0	1	0	0	0	3848	1609	56	5	1910	5	CRB1	1	197390846	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	680968	197390846	51859775	154	137451											
IPO9	55705	broad.mit.edu	37	chr1	201817522	201817523	+	Frame_Shift_Ins	INS	-	-	A													gacttttatcccttacaggcINSaaaaattgttatccgggagc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:201817522_201817523insA	uc001gwz.2	+	4	364_365	c.314_315insA	c.(313-315)GCAfs	p.A105fs		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	105	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CCCTTACAGGCAAAAATTGTTA	0.46													A	201817523	-	A	201817522	7	5	273	1	0	1	1	0	0	0	0	0	7799	724	25	0	328	0	IPO9	1	201817522	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	4426676	201817522	47433099	155	137452	712	2									
IPO9	55705	broad.mit.edu	37	chr1	201817523	201817524	+	Frame_Shift_Ins	INS	-	-	A													acttttatcccttacaggcaINSaaaattgttatccgggagct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:201817522_201817523C>CA	uc001gwz.3	+	3	364_365	c.314_315C>CA	c.(313-315)gcafs	p.A105fs		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	105	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.R104M(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCCTTACAGGCAAAAATTGTTA	0.46													A	201817524	-	A	201817523	7	5	273	1	0	1	1	0	0	0	0	0	7799	117	5	0	329	0	IPO9	1	201817523	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	201817523	47433098	156	137453	712	2									
ELF3	1999	broad.mit.edu	37	chr1	201984387	201984387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatggccggcgactcgTctacaagtttggcaaaaact	13	9	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:201984387T>C	uc001gxg.3	+	8	4244	c.1052T>C	c.(1051-1053)GTC>GCC	p.V351A	ELF3_uc001gxi.3_Missense_Mutation_p.V351A|ELF3_uc001gxh.3_Missense_Mutation_p.V351A	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	351	ETS.				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				0						CGGCGACTCGTCTACAAGTTT	0.557													C	201984387	T	C	201984387	3	2	273	1	0	0	0	0	1	0	0	0	5055	1667	58	3	1082	3	ELF3	1	201984387	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	166864	201984387	47266234	157	137454											
MYBPH	4608	broad.mit.edu	37	chr1	203140677	203140677	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagggcatggccgttgtgGgtccatgtggcctgaggctt	16	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:203140677G>T	uc001gzh.1	-	5	686	c.627C>A	c.(625-627)ACC>ACA	p.T209T	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	209	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGCCGTTGTGGGTCCATGTGG	0.662													T	203140677	G	T	203140677	2	4	273	1	0	0	0	0	0	0	0	1	10014	1219	43	5		5	MYBPH	1	203140677	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1156290	203140677	46109944	158	137455											
SNRPE	6635	broad.mit.edu	37	chr1	203830839	203830839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggttatggtgcagcccAtcgtatcctacgcaggatgt	12	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:203830839A>G	uc001hai.2	+	1	100	c.52A>G	c.(52-54)ATC>GTC	p.I18V	SNRPE_uc010pqn.1_RNA	NM_003094	NP_003085	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	18					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTGCAGCCCATCGTATCCTA	0.582													G	203830839	A	G	203830839	3	3	273	1	0	0	0	0	1	0	0	0	14867	217	8	3	54	3	SNRPE	1	203830839	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	690162	203830839	45419782	159	137456											
SOX13	9580	broad.mit.edu	37	chr1	204092326	204092326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagccatgctgagctgCgacatggatggtgagggctc	17	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204092326C>T	uc001ham.2	+	11	1816	c.1221C>T	c.(1219-1221)TGC>TGT	p.C407C	SOX13_uc010pqp.1_Silent_p.C406C|SOX13_uc010pqq.1_Silent_p.C274C	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	407					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCTGAGCTGCGACATGGATG	0.632													T	204092326	C	T	204092326	2	4	273	1	0	0	0	0	0	0	0	1	14944	776	27	1		1	SOX13	1	204092326	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	261487	204092326	45158295	160	137457											
PLEKHA6	22874	broad.mit.edu	37	chr1	204210879	204210880	+	Frame_Shift_Ins	INS	-	-	G													ggcacaaggctgatgtctctINSgggggtgtccaggggcaatg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204210879_204210880insG	uc001hau.2	-	16	2552_2553	c.2235_2236insC	c.(2233-2238)CCCAGAfs	p.P745fs	PLEKHA6_uc009xau.1_RNA	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	745_746										ovary(3)|pancreas(1)	4	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)			CTGATGTCTCTGGGGGTGTCCA	0.52													G	204210880	-	G	204210879	7	5	273	1	0	1	1	0	0	0	0	0	12060	1588	55	0	938	0	PLEKHA6	1	204210879	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	118553	204210879	45039742	161	137458	713	2									
PLEKHA6	22874	broad.mit.edu	37	chr1	204210880	204210881	+	Frame_Shift_Ins	INS	-	-	G													gcacaaggctgatgtctctgINSggggtgtccaggggcaatgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204210879_204210880T>TG	uc001hau.3	-	15	2552_2553	c.2235_2236A>CA	c.(2233-2238)cccagafs	p.P745fs	PLEKHA6_uc009xau.1_Non-coding_Transcript	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	745										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)			CTGATGTCTCTGGGGGTGTCCA	0.52													G	204210881	-	G	204210880	7	5	273	1	0	1	1	0	0	0	0	0	12060	1335	47	0	939	0	PLEKHA6	1	204210880	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	204210880	45039741	162	137459	713	2									
PLEKHA6	22874	broad.mit.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-													aaggtcttcaggcgggggtaCcccccggcgcagattcaccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		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)			AGGCGGGGGTACCCCCCGGCG	0.627													-	204228411	C	-	204228411	7	5	273	1	0	1	0	1	0	0	0	0	12060	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	17531	204228411	45022210	163	137460											
TMCC2	9911	broad.mit.edu	37	chr1	205241235	205241235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctacctcctggagcacGtgttgctgcccagctgagtg	11	14	1	1	rs140763897		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:205241235G>A	uc001hbz.1	+	6	2557	c.2113G>A	c.(2113-2115)GTG>ATG	p.V705M	TMCC2_uc010prf.1_Missense_Mutation_p.V627M|TMCC2_uc001hca.2_Missense_Mutation_p.V480M|TMCC2_uc001hcb.1_Missense_Mutation_p.V465M|TMCC2_uc001hcc.1_Missense_Mutation_p.V326M|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	705						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTGGAGCACGTGTTGCTGCC	0.622													A	205241235	G	A	205241235	3	1	273	1	0	0	0	0	1	0	0	0	15990	1145	40	1	2131	1	TMCC2	1	205241235	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1012824	205241235	44009386	164	137461											
MFSD4	148808	broad.mit.edu	37	chr1	205554005	205554005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgtgcctcctgcaggGcatgaggacctgttcagctg	12	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:205554005G>A	uc001hcv.3	+	5	947	c.861G>A	c.(859-861)GGG>GGA	p.G287G	MFSD4_uc010prk.1_Silent_p.G200G|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.G232G	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	287					transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTCCTGCAGGGCATGAGGACC	0.592											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	205554005	G	A	205554005	2	1	273	1	0	0	0	0	0	0	0	1	9533	1217	42	2		2	MFSD4	1	205554005	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	312770	205554005	43696616	165	137462											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642045	+	Frame_Shift_Ins	INS	-	-	C													cgggaaaatggagtgctgtcINSccccccacatgtgaaggtac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:207642043_207642044T>TC	uc001hfw.3	+	2	736_737	c.617_618T>TC	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Ins_p.V206fs|CR2_uc009xch.3_Frame_Shift_Ins_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		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						TGGAGTGCTGTCCCCCCCACAT	0.396													C	207642045	-	C	207642044	7	5	273	1	0	1	1	0	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2088039	207642044	41608577	166	137463											
C1orf74	148304	broad.mit.edu	37	chr1	209956976	209956976	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatgagatctagaagcaAcatcaagaatggcctcctta	8	9	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:209956976A>G	uc001hhp.1	-	2	247	c.4T>C	c.(4-6)TTG>CTG	p.L2L		NM_152485	NP_689698	Q96LT6	CA074_HUMAN	hypothetical protein LOC148304	2										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TCTAGAAGCAACATCAAGAAT	0.567													G	209956976	A	G	209956976	2	3	273	1	0	0	0	0	0	0	0	1	2058	40	2	3		3	C1orf74	1	209956976	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2314932	209956976	39293645	167	137464											
KCNH1	3756	broad.mit.edu	37	chr1	210971048	210971048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccttgaacaccttgcGgttcaggtgcacgcagatgt	12	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:210971048G>A	uc001hib.2	-	9	1887	c.1717C>T	c.(1717-1719)CGC>TGC	p.R573C	KCNH1_uc001hic.2_Missense_Mutation_p.R546C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	573	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACACCTTGCGGTTCAGGTGC	0.617													A	210971048	G	A	210971048	3	1	273	1	0	0	0	0	1	0	0	0	8031	1116	39	1	1264	1	KCNH1	1	210971048	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1014072	210971048	38279573	168	137465											
USH2A	7399	broad.mit.edu	37	chr1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaatagatccacttgtGtaaaggcaagactggtattt	9	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:216251649G>C	uc001hku.1	-	27	5741	c.5354C>G	c.(5353-5355)ACA>AGA	p.T1785R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1785	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353										HNSCC(13;0.011)			C	216251649	G	C	216251649	3	2	273	1	0	0	0	0	1	0	0	0	17033	1377	48	5	10438	5	USH2A	1	216251649	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5280601	216251649	32998972	169	137466											
MIA3	375056	broad.mit.edu	37	chr1	222803243	222803243	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggcacagaaagccaggggtCtgctgctgcagaacctgaag	15	10	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:222803243C>G	uc001hnl.2	+	4	2690	c.2681C>G	c.(2680-2682)TCT>TGT	p.S894C	MIA3_uc009xea.1_Missense_Mutation_p.S730C	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	894	Extracellular (Potential).				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			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGGGTCTGCTGCTGCA	0.517													G	222803243	C	G	222803243	3	3	273	1	0	0	0	0	1	0	0	0	9565	913	32	5	2695	5	MIA3	1	222803243	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6551594	222803243	26447378	170	137467											
TLR5	7100	broad.mit.edu	37	chr1	223284008	223284008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggacccaaccaccaccAtgatgagagcactgttaagg	9	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:223284008A>G	uc001hnv.1	-	4	2812	c.2366T>C	c.(2365-2367)ATG>ACG	p.M789T	TLR5_uc001hnw.1_Missense_Mutation_p.M789T	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	789	Cytoplasmic (Potential).|TIR.		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			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AACCACCACCATGATGAGAGC	0.488													G	223284008	A	G	223284008	3	3	273	1	0	0	0	0	1	0	0	0	15951	217	8	3	214	3	TLR5	1	223284008	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	480765	223284008	25966613	171	137468											
WDR26	80232	broad.mit.edu	37	chr1	224581610	224581610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaggcgctggccatcatgGatggaatctgtgggttccag	15	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:224581610G>A	uc001hop.3	-	13	1805	c.1439C>T	c.(1438-1440)TCC>TTC	p.S480F	WDR26_uc001hoq.3_Missense_Mutation_p.S464F|WDR26_uc010pvh.1_Missense_Mutation_p.S187F	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	627	WD 6.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		GGCCATCATGGATGGAATCTG	0.463													A	224581610	G	A	224581610	3	1	273	1	0	0	0	0	1	0	0	0	17280	1174	41	4	113	4	WDR26	1	224581610	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1297602	224581610	24669011	172	137469											
LBR	3930	broad.mit.edu	37	chr1	225592396	225592396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcacctcggaagattAcataaccacaaactgcaatt	5	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:225592396A>G	uc001hoy.2	-	12	1639	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	LBR_uc001hoz.2_Missense_Mutation_p.V499A	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	499	Helical; (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TCGGAAGATTACATAACCACA	0.284													G	225592396	A	G	225592396	3	3	273	1	0	0	0	0	1	0	0	0	8652	391	14	3	363	3	LBR	1	225592396	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1010786	225592396	23658225	173	137470											
ITPKB	3707	broad.mit.edu	37	chr1	226923439	226923439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcctcctgggtgcccAtgtctgtaatgatgacagca	9	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:226923439A>G	uc010pvo.1	-	2	2061	c.1721T>C	c.(1720-1722)ATG>ACG	p.M574T	ITPKB_uc001hqh.2_Missense_Mutation_p.M574T	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	574							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CTGGGTGCCCATGTCTGTAAT	0.632													G	226923439	A	G	226923439	3	3	273	1	0	0	0	0	1	0	0	0	7918	217	8	3	1147	3	ITPKB	1	226923439	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1331043	226923439	22327182	174	137471											
OBSCN	84033	broad.mit.edu	37	chr1	228401959	228401959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagctggcggtcccggTgggccccgtccactggctgc	17	15	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:228401959T>C	uc009xez.1	+	4	1387	c.1343T>C	c.(1342-1344)GTG>GCG	p.V448A	OBSCN_uc001hsn.2_Missense_Mutation_p.V448A|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	448	Ig-like 5.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCGGTCCCGGTGGGCCCCGTC	0.697													C	228401959	T	C	228401959	3	2	273	1	0	0	0	0	1	0	0	0	10812	1696	59	3	1353	3	OBSCN	1	228401959	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1478520	228401959	20848662	175	137472											
OBSCN	84033	broad.mit.edu	37	chr1	228437777	228437777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccagacagaggtgaCgtggtacaaggacgggaaga	16	9	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:228437777C>T	uc009xez.1	+	14	4189	c.4145C>T	c.(4144-4146)ACG>ATG	p.T1382M	OBSCN_uc001hsn.2_Missense_Mutation_p.T1382M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1382	Ig-like 14.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACAGAGGTGACGTGGTACAAG	0.642													T	228437777	C	T	228437777	3	4	273	1	0	0	0	0	1	0	0	0	10812	536	19	1	4195	1	OBSCN	1	228437777	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	35818	228437777	20812844	176	137473											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649831	232649831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcaatccgcctgtcgccttCccctccagtctcatttctaa	5	18	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:232649831C>T	uc001hvg.2	-	1	1413	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	419					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGTCGCCTTCCCCTCCAGTC	0.512													T	232649831	C	T	232649831	3	4	273	1	0	0	0	0	1	0	0	0	14330	864	30	4	3997	4	SIPA1L2	1	232649831	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4212054	232649831	16600790	177	137474											
KIAA1804	84451	broad.mit.edu	37	chr1	233514953	233514953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttctggcatcggtggCtctgggactggacctcagag	14	12	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:233514953C>T	uc001hvt.3	+	9	2462	c.2201C>T	c.(2200-2202)GCT>GTT	p.A734V	KIAA1804_uc001hvu.3_Missense_Mutation_p.A180V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	734					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCATCGGTGGCTCTGGGACTG	0.527													T	233514953	C	T	233514953	3	4	273	1	0	0	0	0	1	0	0	0	8259	797	28	2	2235	2	KIAA1804	1	233514953	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	865122	233514953	15735668	178	137475											
ARID4B	51742	broad.mit.edu	37	chr1	235357477	235357478	+	Frame_Shift_Ins	INS	-	-	T													caagcgccgaagtttacagtINStttttggagagtatttttca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:235357476_235357477G>GT	uc021pks.1	-	18	2353_2354	c.1976_1977C>AC	c.(1975-1977)aacfs	p.N659fs	ARID4B_uc001hwq.3_Frame_Shift_Ins_p.N659fs|ARID4B_uc001hwr.3_Frame_Shift_Ins_p.N573fs|ARID4B_uc001hws.4_Frame_Shift_Ins_p.N573fs|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Frame_Shift_Ins_p.N340fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	659					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)			GAAGTTTACAGTTTTTTGGAGA	0.342													T	235357478	-	T	235357477	7	5	273	1	0	1	1	0	0	0	0	0	920	1725	60	0	1986	0	ARID4B	1	235357477	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1842524	235357477	13893144	179	137476											
LYST	1130	broad.mit.edu	37	chr1	235971943	235971943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatataatttccactgaacAactatattgcctttctggat	4	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:235971943A>G	uc001hxj.2	-	5	2350	c.2175T>C	c.(2173-2175)GTT>GTC	p.V725V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.V725V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	725					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			TCCACTGAACAACTATATTGC	0.323									Chediak-Higashi_syndrome				G	235971943	A	G	235971943	2	3	273	1	0	0	0	0	0	0	0	1	9128	117	5	3		3	LYST	1	235971943	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	614466	235971943	13278678	180	137477											
HEATR1	55127	broad.mit.edu	37	chr1	236749213	236749213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccgattagttttcctggCtttgtgcttttaattacatt	6	8	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:236749213C>T	uc001hyd.1	-	16	2081	c.1956G>A	c.(1954-1956)AAG>AAA	p.K652K	HEATR1_uc009xgh.1_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	652					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTTTTCCTGGCTTTGTGCTTT	0.348													T	236749213	C	T	236749213	2	4	273	1	0	0	0	0	0	0	0	1	7027	796	28	2		2	HEATR1	1	236749213	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	777270	236749213	12501408	181	137478											
FMN2	56776	broad.mit.edu	37	chr1	240256760	240256760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggcggccggaaccctccCtgagccgagggtccagaact	14	14	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:240256760C>A	uc010pyd.1	+	1	1576	c.1351C>A	c.(1351-1353)CTG>ATG	p.L451M	FMN2_uc010pye.1_Missense_Mutation_p.L451M	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	451					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.P451Q(1)		ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAACCCTCCCTGAGCCGAGG	0.692													A	240256760	C	A	240256760	3	1	273	1	0	0	0	0	1	0	0	0	5950	680	24	5	1353	5	FMN2	1	240256760	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3507547	240256760	8993861	182	137479											
FMN2	56776	broad.mit.edu	37	chr1	240286560	240286560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttttgctcccggatcaTtgccatgggtcttctccttc	9	12	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:240286560T>C	uc010pyd.1	+	2	1922	c.1697T>C	c.(1696-1698)ATT>ACT	p.I566T	FMN2_uc010pye.1_Missense_Mutation_p.I566T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	566					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGGATCATTGCCATGGGT	0.498													C	240286560	T	C	240286560	3	2	273	1	0	0	0	0	1	0	0	0	5950	1493	52	3	1703	3	FMN2	1	240286560	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	29800	240286560	8964061	183	137480											
KMO	8564	broad.mit.edu	37	chr1	241753345	241753345	+	Frame_Shift_Del	DEL	T	T	-													tgtcaactcaagctggttcaTttttcagaagaacatggaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:241753345delT	uc009xgp.2	+	13	1195	c.1130delT	c.(1129-1131)ATTfs	p.I377fs	KMO_uc001hyy.2_Intron|KMO_uc009xgo.1_Frame_Shift_Del_p.I377fs	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	377					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AGCTGGTTCATTTTTCAGAAG	0.393													-	241753345	T	-	241753345	7	5	273	1	0	1	0	1	0	0	0	0	8424	1493	52	0	1180	0	KMO	1	241753345	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1466785	241753345	7497276	184	137481											
EXO1	9156	broad.mit.edu	37	chr1	242042481	242042481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctgagaataatatgTctgatgtgtcgcagttaaag	10	6	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:242042481T>C	uc001hzh.2	+	13	2485	c.1945T>C	c.(1945-1947)TCT>CCT	p.S649P	EXO1_uc001hzi.2_Missense_Mutation_p.S649P|EXO1_uc001hzj.2_Missense_Mutation_p.S649P|EXO1_uc009xgq.2_Missense_Mutation_p.S648P	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	649	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAATAATATGTCTGATGTGTC	0.493								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	242042481	T	C	242042481	3	2	273	1	0	0	0	0	1	0	0	0	5300	1667	58	3	1983	3	EXO1	1	242042481	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	289136	242042481	7208140	185	137482											
PLD5	200150	broad.mit.edu	37	chr1	242253325	242253325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaagttgcttaatgatgCttctgttgttcctcacatct	6	9	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:242253325C>T	uc001hzn.1	-	10	1569	c.1442G>A	c.(1441-1443)AGC>AAC	p.S481N	PLD5_uc001hzl.3_Missense_Mutation_p.S419N|PLD5_uc001hzm.3_Missense_Mutation_p.S271N|PLD5_uc001hzo.1_Missense_Mutation_p.S389N			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	481						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTTAATGATGCTTCTGTTGTT	0.443													T	242253325	C	T	242253325	3	4	273	1	0	0	0	0	1	0	0	0	12049	797	28	2	172	2	PLD5	1	242253325	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	210844	242253325	6997296	186	137483											
CEP170	9859	broad.mit.edu	37	chr1	243388559	243388560	+	Frame_Shift_Ins	INS	-	-	A													gagtgcctccactgctcaccINSaaaaaccaggatgttaagct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:243388559_243388560insA	uc001hzs.2	-	2	431_432	c.23_24insT	c.(22-24)TTGfs	p.L8fs	CEP170_uc001hzt.2_Frame_Shift_Ins_p.L8fs|CEP170_uc001hzu.2_Frame_Shift_Ins_p.L8fs	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	8						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			CACTGCTCACCAAAAACCAGGA	0.426													A	243388560	-	A	243388559	7	5	273	1	0	1	1	0	0	0	0	0	3250	593	21	0	4836	0	CEP170	1	243388559	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1135234	243388559	5862062	187	137484											
NLRP3	114548	broad.mit.edu	37	chr1	247587785	247587785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccgaggcctctctgcTcatcaccacgagacctgtgg	10	16	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:247587785T>G	uc001icr.2	+	5	1178	c.1040T>G	c.(1039-1041)CTC>CGC	p.L347R	NLRP3_uc001ics.2_Missense_Mutation_p.L347R|NLRP3_uc001icu.2_Missense_Mutation_p.L347R|NLRP3_uc001icw.2_Missense_Mutation_p.L347R|NLRP3_uc001icv.2_Missense_Mutation_p.L347R|NLRP3_uc010pyw.1_Missense_Mutation_p.L345R|NLRP3_uc001ict.1_Missense_Mutation_p.L345R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	347	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			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			GCCTCTCTGCTCATCACCACG	0.582													G	247587785	T	G	247587785	3	3	273	1	0	0	0	0	1	0	0	0	10478	1551	54	5	1050	5	NLRP3	1	247587785	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4199226	247587785	1662836	188	137485											
OR14C36	127066	broad.mit.edu	37	chr1	248512652	248512652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctctgacaccttcagCaatgaggtcatgattgttgt	9	9	4	3	rs143633335	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:248512652C>T	uc010pzl.1	+	1	576	c.576C>T	c.(574-576)AGC>AGT	p.S192S		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ACACCTTCAGCAATGAGGTCA	0.498													T	248512652	C	T	248512652	2	4	273	1	0	0	0	0	0	0	0	1	10946	709	25	2		2	OR14C36	1	248512652	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	924867	248512652	737969	189	137486											
OR2T27	403239	broad.mit.edu	37	chr1	248813858	248813858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctaggaggaagaactcagCccctgctaaggtcaagtaga	11	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:248813858C>T	uc010pzo.1	-	1	328	c.328G>A	c.(328-330)GCT>ACT	p.A110T		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			AAGAACTCAGCCCCTGCTAAG	0.527													T	248813858	C	T	248813858	3	4	273	1	0	0	0	0	1	0	0	0	11021	739	26	2	628	2	OR2T27	1	248813858	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	301206	248813858	436763	190	137487											
PXDN	7837	broad.mit.edu	37	chr2	1652519	1652519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcatagtagatggtgtcGccgtcccagtgcgggttcag	14	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:1652519G>A	uc002qxa.2	-	17	3097	c.3033C>T	c.(3031-3033)GGC>GGT	p.G1011G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1011					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			pancreas(6)|ovary(2)	8	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)		AGATGGTGTCGCCGTCCCAGT	0.617													A	1652519	G	A	1652519	2	1	273	1	0	0	0	0	0	0	0	1	12847	1074	38	1		1	PXDN	2	1652519	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		1652519	241546854	191	137488											
MYT1L	23040	broad.mit.edu	37	chr2	1906994	1906994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttggccaggttggaacgCggcgtagttgtggggacatt	16	8	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:1906994C>T	uc002qxe.2	-	14	2717	c.1890G>A	c.(1888-1890)CCG>CCA	p.P630P	MYT1L_uc002qxd.2_Silent_p.P628P|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	630					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		GGTTGGAACGCGGCGTAGTTG	0.468													T	1906994	C	T	1906994	2	4	273	1	0	0	0	0	0	0	0	1	10107	755	27	1		1	MYT1L	2	1906994	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	254475	1906994	241292379	192	137489											
MBOAT2	129642	broad.mit.edu	37	chr2	9017342	9017342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtaagcttggcatgcGcctgcaatgaaaagacatgc	10	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:9017342G>A	uc002qzg.1	-	7	641	c.508C>T	c.(508-510)CGC>TGC	p.R170C	MBOAT2_uc010yix.1_Missense_Mutation_p.R170C	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	170					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTGGCATGCGCCTGCAATGA	0.428													A	9017342	G	A	9017342	3	1	273	1	0	0	0	0	1	0	0	0	9357	1101	38	1	1082	1	MBOAT2	2	9017342	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7110348	9017342	234182031	193	137490											
LPIN1	23175	broad.mit.edu	37	chr2	11922594	11922594	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctgccagtgtagtcCagacagcaaacaagacggat	9	14	1	2	rs146529487	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:11922594C>A	uc010yjn.1	+	8	1391	c.1117C>A	c.(1117-1119)CAG>AAG	p.Q373K	LPIN1_uc010yjm.1_Missense_Mutation_p.Q458K|LPIN1_uc002rbt.2_Missense_Mutation_p.Q373K|LPIN1_uc002rbs.2_Missense_Mutation_p.Q409K	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	373					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CAGTGTAGTCCAGACAGCAAA	0.512													A	11922594	C	A	11922594	3	1	273	1	0	0	0	0	1	0	0	0	8918	595	21	5	1139	5	LPIN1	2	11922594	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2905252	11922594	231276779	194	137491											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-													aatgttttccgcttctacagTttttttatcattctgtaact							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:17698736_17698736GT>G	uc002rcl.1	-	0	971	c.947_947AC>C	c.(946-948)actfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATC	0.328													-	17698737	T	-	17698737	7	5	273	1	0	1	0	1	0	0	0	0	12987	1725	60	0	2545	0	RAD51AP2	2	17698737	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	5776143	17698737	225500636	195	137492											
KCNS3	3790	broad.mit.edu	37	chr2	18112978	18112978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcattgcctggttcaccGgggagcttgccgtccggctg	15	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:18112978G>A	uc002rcv.2	+	3	1154	c.703G>A	c.(703-705)GGG>AGG	p.G235R	KCNS3_uc002rcw.2_Missense_Mutation_p.G235R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	235	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517													A	18112978	G	A	18112978	3	1	273	1	0	0	0	0	1	0	0	0	8090	1116	39	1	705	1	KCNS3	2	18112978	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	414241	18112978	225086395	196	137493											
ADCY3	109	broad.mit.edu	37	chr2	25141233	25141233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctgctgctgggccacGgtgacccccaggaccaacgt	12	16	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:25141233G>A	uc002rfs.3	-	1	823	c.624C>T	c.(622-624)ACC>ACT	p.T208T	ADCY3_uc010ykm.1_Silent_p.T208T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	208					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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCTGGGCCACGGTGACCCCCA	0.632													A	25141233	G	A	25141233	2	1	273	1	0	0	0	0	0	0	0	1	295	1103	39	1		1	ADCY3	2	25141233	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7028255	25141233	218058140	197	137494											
KIF3C	3797	broad.mit.edu	37	chr2	26152924	26152924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccgcttcttcatctggCtgctactgctgtaggaaaga	11	10	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:26152924C>T	uc002rgu.2	-	6	2672	c.2015G>A	c.(2014-2016)AGC>AAC	p.S672N	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.S670N	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	672	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATCTGGCTGCTACTGCT	0.498													T	26152924	C	T	26152924	3	4	273	1	0	0	0	0	1	0	0	0	8302	797	28	2	378	2	KIF3C	2	26152924	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1011691	26152924	217046449	198	137495											
KIF3C	3797	broad.mit.edu	37	chr2	26204576	26204576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcgtcatacaggtcggCctgcttggagctggcatcat	13	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:26204576C>T	uc002rgu.2	-	1	868	c.211G>A	c.(211-213)GCC>ACC	p.A71T	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.A71T	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	71	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAGGTCGGCCTGCTTGGAG	0.632													T	26204576	C	T	26204576	3	4	273	1	0	0	0	0	1	0	0	0	8302	739	26	2	2202	2	KIF3C	2	26204576	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	51652	26204576	216994797	199	137496											
DPYSL5	56896	broad.mit.edu	37	chr2	27121530	27121530	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgattgatgccacaGgaaaactggtgatccctggt	12	9	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:27121530G>T	uc002rhu.3	+	2	321	c.163G>T	c.(163-165)GGA>TGA	p.G55*	DPYSL5_uc002rhv.3_Nonsense_Mutation_p.G55*	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	55					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACAGGAAAACTGGT	0.587													T	27121530	G	T	27121530	4	4	273	1	0	0	0	0	0	1	0	0	4750	1001	35	5	165	5	DPYSL5	2	27121530	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	916954	27121530	216077843	200	137497											
EMILIN1	11117	broad.mit.edu	37	chr2	27306623	27306623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttagaggggcgattgggCcgtcttgagggtgtctgtga	18	6	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:27306623C>T	uc002rii.3	+	4	2612	c.2184C>T	c.(2182-2184)GGC>GGT	p.G728G	EMILIN1_uc002rik.3_5'UTR|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	728	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGATTGGGCCGTCTTGAGG	0.652													T	27306623	C	T	27306623	2	4	273	1	0	0	0	0	0	0	0	1	5093	726	26	2		2	EMILIN1	2	27306623	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	185093	27306623	215892750	201	137498											
C2orf53	339779	broad.mit.edu	37	chr2	27361028	27361028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggggaggagggacgaCgggactgagtggaagagaac	22	4	0	2	rs149337790		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:27361028C>T	uc002rjb.2	-	3	750	c.170G>A	c.(169-171)CGT>CAT	p.R57H		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	57	Pro-rich.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGGACGACGGGACTGAGT	0.562													T	27361028	C	T	27361028	3	4	273	1	0	0	0	0	1	0	0	0	2174	536	19	1	1072	1	C2orf53	2	27361028	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	54405	27361028	215838345	202	137499											
FOSL2	2355	broad.mit.edu	37	chr2	28631707	28631707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtgccggaaccgacgcCgggagctgacagagaagctg	15	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:28631707C>T	uc002rma.2	+	3	1245	c.436C>T	c.(436-438)CGG>TGG	p.R146W	FOSL2_uc010ymi.1_Missense_Mutation_p.R107W	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	146	Basic motif.				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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					GAACCGACGCCGGGAGCTGAC	0.647													T	28631707	C	T	28631707	3	4	273	1	0	0	0	0	1	0	0	0	5988	643	23	1	446	1	FOSL2	2	28631707	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1270679	28631707	214567666	203	137500											
PLB1	151056	broad.mit.edu	37	chr2	28812327	28812327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcaggagaagacccAccaactgattgagagtgggc	12	12	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:28812327A>G	uc002rmb.1	+	27	1826	c.1826A>G	c.(1825-1827)CAC>CGC	p.H609R	PLB1_uc010ezj.1_Missense_Mutation_p.H598R|PLB1_uc002rmc.2_Missense_Mutation_p.H297R|PLB1_uc002rmd.1_Missense_Mutation_p.H119R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	609	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGAAGACCCACCAACTGATT	0.483													G	28812327	A	G	28812327	3	3	273	1	0	0	0	0	1	0	0	0	12024	159	6	3	1965	3	PLB1	2	28812327	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	180620	28812327	214387046	204	137501											
XDH	7498	broad.mit.edu	37	chr2	31589790	31589790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccatctcccctgcctcGccttttggaacagcaatggt	8	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:31589790G>A	uc002rnv.1	-	21	2347	c.2268C>T	c.(2266-2268)GGC>GGT	p.G756G		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	756					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	CCCCTGCCTCGCCTTTTGGAA	0.552													A	31589790	G	A	31589790	2	1	273	1	0	0	0	0	0	0	0	1	17423	1074	38	1		1	XDH	2	31589790	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2777463	31589790	211609583	205	137502											
XDH	7498	broad.mit.edu	37	chr2	31625916	31625916	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcaggcaaaggatacacGatcttgttctgcagacgatc	10	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:31625916G>A	uc002rnv.1	-	3	274	c.195C>T	c.(193-195)ATC>ATT	p.I65I		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	65	2Fe-2S ferredoxin-type.				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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	AAGGATACACGATCTTGTTCT	0.478													A	31625916	G	A	31625916	2	1	273	1	0	0	0	0	0	0	0	1	17423	1048	37	1		1	XDH	2	31625916	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	36126	31625916	211573457	206	137503											
LTBP1	4052	broad.mit.edu	37	chr2	33468789	33468789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgtttgaataccatggGcagctatcgatgtacctgca	11	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:33468789G>A	uc002ros.2	+	10	1937	c.1937G>A	c.(1936-1938)GGC>GAC	p.G646D	LTBP1_uc002rot.2_Missense_Mutation_p.G320D|LTBP1_uc002rou.2_Missense_Mutation_p.G320D|LTBP1_uc002rov.2_Missense_Mutation_p.G320D|LTBP1_uc010ymz.1_Missense_Mutation_p.G320D|LTBP1_uc010yna.1_Missense_Mutation_p.G320D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	646	EGF-like 3; 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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AATACCATGGGCAGCTATCGA	0.393													A	33468789	G	A	33468789	3	1	273	1	0	0	0	0	1	0	0	0	9073	1203	42	2	2030	2	LTBP1	2	33468789	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1842873	33468789	209730584	207	137504											
LTBP1	4052	broad.mit.edu	37	chr2	33589401	33589401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgtcagaaaaaagatgTatacgaccggctgagtcaaa	11	7	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:33589401T>C	uc002ros.2	+	30	4521	c.4521T>C	c.(4519-4521)TGT>TGC	p.C1507C	LTBP1_uc002rot.2_Silent_p.C1181C|LTBP1_uc002rou.2_Silent_p.C1180C|LTBP1_uc002rov.2_Silent_p.C1127C|LTBP1_uc010ymz.1_Silent_p.C1138C|LTBP1_uc010yna.1_Silent_p.C1085C|LTBP1_uc010ynb.1_Silent_p.C404C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1506					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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAAAAAGATGTATACGACCGG	0.418													C	33589401	T	C	33589401	2	2	273	1	0	0	0	0	0	0	0	1	9073	1644	57	3		3	LTBP1	2	33589401	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	120612	33589401	209609972	208	137505											
CRIM1	51232	broad.mit.edu	37	chr2	36726453	36726453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattaatggtttcaaacgCgatcacaatggttgtcggac	10	8	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:36726453C>T	uc002rpd.2	+	8	1503	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	488	Antistasin-like 1.|Extracellular (Potential).				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			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAAACGCGATCACAATG	0.408													T	36726453	C	T	36726453	2	4	273	1	0	0	0	0	0	0	0	1	3873	755	27	1		1	CRIM1	2	36726453	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3137052	36726453	206472920	209	137506											
VIT	5212	broad.mit.edu	37	chr2	37035886	37035886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatcggggccgtgcagtAcacctacgaacagcggctgg	15	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:37035886A>G	uc002rpl.2	+	15	1882	c.1661A>G	c.(1660-1662)TAC>TGC	p.Y554C	VIT_uc002rpm.2_Missense_Mutation_p.Y532C|VIT_uc010ezv.2_Missense_Mutation_p.Y510C|VIT_uc010ezw.2_Missense_Mutation_p.Y511C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	539	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GCCGTGCAGTACACCTACGAA	0.587													G	37035886	A	G	37035886	3	3	273	1	0	0	0	0	1	0	0	0	17168	391	14	3	1840	3	VIT	2	37035886	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	309433	37035886	206163487	210	137507											
STRN	6801	broad.mit.edu	37	chr2	37076914	37076914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaacttgtaacagcttctaGgtgggctaccatcgagtgga	11	8	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:37076914G>T	uc002rpn.2	-	17	2125	c.2116C>A	c.(2116-2118)CTA>ATA	p.L706I	STRN_uc010ezx.2_Missense_Mutation_p.L669I	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	706	WD 5.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACAGCTTCTAGGTGGGCTACC	0.398													T	37076914	G	T	37076914	3	4	273	1	0	0	0	0	1	0	0	0	15328	991	35	5	234	5	STRN	2	37076914	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	41028	37076914	206122459	211	137508											
ZFP36L2	678	broad.mit.edu	37	chr2	43452622	43452623	+	Frame_Shift_Ins	INS	-	-	C													tgagcagggctgtgccgccgINSccccccgacggctccttaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:43452622_43452623insC	uc002rsv.3	-	2	611_612	c.320_321insG	c.(319-321)GGCfs	p.G107fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	107	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGTGCCGCCGCCCCCCGACGG	0.693													C	43452623	-	C	43452622	7	5	273	1	0	1	1	0	0	0	0	0	17644	1074	38	0	1167	0	ZFP36L2	2	43452622	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	6375708	43452622	199746751	212	137509	714	2									
ZFP36L2	678	broad.mit.edu	37	chr2	43452623	43452624	+	Frame_Shift_Ins	INS	-	-	C													gagcagggctgtgccgccgcINScccccgacggctccttaagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:43452622_43452623G>GC	uc002rsv.4	-	1	611_612	c.320_321C>GC	c.(319-321)ggcfs	p.G107fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	107	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G107G(2)		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)				CTGTGCCGCCGCCCCCCGACGG	0.693													C	43452624	-	C	43452623	7	5	273	1	0	1	1	0	0	0	0	0	17644	739	26	0	1168	0	ZFP36L2	2	43452623	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	43452623	199746750	213	137510	714	2									
PREPL	9581	broad.mit.edu	37	chr2	44550553	44550553	+	Splice_Site	DEL	A	A	-													aacatccaagaaaggtgcctAaaaaaaaggcaaagaaactt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					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)				GAAAGGTGCCTAAAAAAAAGG	0.333													-	44550553	A	-	44550553	8	5	273	1	0	1	0	1	0	0	1	0	12475	377	13	0		0	PREPL	2	44550553	Splice_Site	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	1097930	44550553	198648820	214	137511											
SOCS5	9655	broad.mit.edu	37	chr2	46985744	46985744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtcatgagggaggaagCcgtagtgaaaatgtggacat	15	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:46985744C>T	uc002rvf.2	+	2	239	c.75C>T	c.(73-75)AGC>AGT	p.S25S	SOCS5_uc010yoe.1_5'UTR|SOCS5_uc002rvg.2_Silent_p.S25S	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	25					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					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGGGAGGAAGCCGTAGTGAAA	0.393													T	46985744	C	T	46985744	2	4	273	1	0	0	0	0	0	0	0	1	14917	738	26	2		2	SOCS5	2	46985744	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2435191	46985744	196213629	215	137512											
MSH6	2956	broad.mit.edu	37	chr2	48027059	48027059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaatattttagggaaaAgctaagtgatggcattgggg	15	2	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:48027059A>G	uc002rwd.3	+	4	2089	c.1937A>G	c.(1936-1938)AAG>AGG	p.K646R	MSH6_uc002rwc.2_Missense_Mutation_p.K646R|MSH6_uc010fbj.2_Missense_Mutation_p.K344R|MSH6_uc010yoi.1_Missense_Mutation_p.K516R|MSH6_uc010yoj.1_Missense_Mutation_p.K344R	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	646					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			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTAGGGAAAAGCTAAGTGAT	0.448			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				G	48027059	A	G	48027059	3	3	273	1	0	0	0	0	1	0	0	0	9874	72	3	3	1951	3	MSH6	2	48027059	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1041315	48027059	195172314	216	137513											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	273	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	6140081	54167140	189032233	217	137514											
MTIF2	4528	broad.mit.edu	37	chr2	55491004	55491004	+	Splice_Site	DEL	G	G	-													ttctggttcatgtttctcctGgggaaaaaaaaaaggtttta							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:55491003_55491003TG>T	uc002ryn.3	-	5	731	c.-6_splice	c.e5-1		MTIF2_uc010yox.2_Splice_Site|MTIF2_uc002ryo.3_Splice_Site|MTIF2_uc002ryp.1_Intron	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ATGTTTCTCCTGGGGAAAAAA	0.343													-	55491004	G	-	55491004	8	5	273	1	0	1	0	1	0	0	1	0	9934	1363	47	0		0	MTIF2	2	55491004	Splice_Site	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1323864	55491004	187708369	218	137515											
CCDC104	112942	broad.mit.edu	37	chr2	55746995	55746995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagagcatcgcggggttcCtgcgaggcccagactggtcc	16	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:55746995C>A	uc002ryy.2	+	1	256	c.58C>A	c.(58-60)CTG>ATG	p.L20M	CCDC104_uc002ryx.2_Missense_Mutation_p.L20M	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	20										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGCGGGGTTCCTGCGAGGCCC	0.577													A	55746995	C	A	55746995	3	1	273	1	0	0	0	0	1	0	0	0	2739	680	24	5	60	5	CCDC104	2	55746995	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	255991	55746995	187452378	219	137516											
ADD2	119	broad.mit.edu	37	chr2	70903966	70903966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatgacgctcgccaggaGctgggactgaggccccgctg	16	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:70903966G>A	uc002sgz.2	-	13	2020	c.1555C>T	c.(1555-1557)CTC>TTC	p.L519F	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.L519F|ADD2_uc002sha.2_Missense_Mutation_p.L213F|ADD2_uc002sgx.2_Missense_Mutation_p.L519F|ADD2_uc010fdt.1_Missense_Mutation_p.L519F|ADD2_uc002shc.1_Missense_Mutation_p.L519F|ADD2_uc002shd.1_Missense_Mutation_p.L213F|ADD2_uc010fdu.1_Missense_Mutation_p.L535F	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	519					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			ovary(2)|pancreas(1)	3						CTCGCCAGGAGCTGGGACTGA	0.602													A	70903966	G	A	70903966	3	1	273	1	0	0	0	0	1	0	0	0	305	971	34	2	818	2	ADD2	2	70903966	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	15156971	70903966	172295407	220	137517											
DYSF	8291	broad.mit.edu	37	chr2	71795421	71795421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacagcttccgcccctcGgccggctggacctgggctgg	15	15	0	0	rs148902254	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:71795421G>A	uc002sie.2	+	26	3139	c.2763G>A	c.(2761-2763)TCG>TCA	p.S921S	DYSF_uc010feg.2_Silent_p.S952S|DYSF_uc010feh.2_Silent_p.S907S|DYSF_uc002sig.3_Silent_p.S907S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.S921S|DYSF_uc010fef.2_Silent_p.S938S|DYSF_uc010fei.2_Silent_p.S938S|DYSF_uc010fek.2_Silent_p.S939S|DYSF_uc010fej.2_Silent_p.S908S|DYSF_uc010fel.2_Silent_p.S908S|DYSF_uc010feo.2_Silent_p.S953S|DYSF_uc010fem.2_Silent_p.S922S|DYSF_uc010fen.2_Silent_p.S939S|DYSF_uc002sif.2_Silent_p.S922S	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	921	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TCCGCCCCTCGGCCGGCTGGA	0.642													A	71795421	G	A	71795421	2	1	273	1	0	0	0	0	0	0	0	1	4859	1103	39	1		1	DYSF	2	71795421	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	891455	71795421	171403952	221	137518											
TET3	200424	broad.mit.edu	37	chr2	74327911	74327911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcctgagcccggcctaCggtggtgctgagtttgccga	14	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74327911C>T	uc002skb.3	+	9	3591	c.3591C>T	c.(3589-3591)TAC>TAT	p.Y1197Y		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1197							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GCCCGGCCTACGGTGGTGCTG	0.652													T	74327911	C	T	74327911	2	4	273	1	0	0	0	0	0	0	0	1	15768	547	19	1		1	TET3	2	74327911	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2532490	74327911	168871462	222	137519											
DCTN1	1639	broad.mit.edu	37	chr2	74596303	74596303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgttgcctctccacAgatgcttcctgctggtttgt	11	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74596303A>G	uc002skx.2	-	15	1934	c.1623T>C	c.(1621-1623)TCT>TCC	p.S541S	DCTN1_uc002skv.2_Silent_p.S407S|DCTN1_uc002sku.2_Silent_p.S407S|DCTN1_uc002skw.1_Silent_p.S517S|DCTN1_uc010ffd.2_Silent_p.S521S|DCTN1_uc002sky.2_Silent_p.S504S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	541	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCCTCTCCACAGATGCTTCCT	0.532													G	74596303	A	G	74596303	2	3	273	1	0	0	0	0	0	0	0	1	4306	175	7	3		3	DCTN1	2	74596303	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	268392	74596303	168603070	223	137520											
WBP1	23559	broad.mit.edu	37	chr2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C													tcaccgcccaggcacaccacINScccccccttatactgtggcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584													C	74687411	-	C	74687410	7	5	273	1	0	1	1	0	0	0	0	0	17254	507	18	0	426	0	WBP1	2	74687410	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	91107	74687410	168511963	224	137521											
TTC31	64427	broad.mit.edu	37	chr2	74717792	74717792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtccttcaggaagccaatCgcctggctgaggagctggtg	14	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74717792C>T	uc002slt.2	+	5	495	c.472C>T	c.(472-474)CGC>TGC	p.R158C	TTC31_uc002sls.2_Missense_Mutation_p.R87C|TTC31_uc010yrv.1_Missense_Mutation_p.R14C|TTC31_uc002slu.2_Missense_Mutation_p.R14C	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	158	Potential.						binding				0						GGAAGCCAATCGCCTGGCTGA	0.527													T	74717792	C	T	74717792	3	4	273	1	0	0	0	0	1	0	0	0	16697	884	31	1	490	1	TTC31	2	74717792	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	30382	74717792	168481581	225	137522											
SNRNP200	23020	broad.mit.edu	37	chr2	96940786	96940786	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctcagcttctttcacAtccacgctgaatttgtactc	5	13	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:96940786A>G	uc002svu.2	-	45	6461	c.6375T>C	c.(6373-6375)GAT>GAC	p.D2125D	SNRNP200_uc002svt.2_Silent_p.D735D|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	2125						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CTTCTTTCACATCCACGCTGA	0.463													G	96940786	A	G	96940786	2	3	273	1	0	0	0	0	0	0	0	1	14852	214	8	3		3	SNRNP200	2	96940786	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	22222994	96940786	146258587	226	137523											
KIAA1310	55683	broad.mit.edu	37	chr2	97278221	97278221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcactttgcttctcactGccccaatcatatgctcgaga	6	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:97278221G>A	uc002swn.3	-	8	1138	c.992C>T	c.(991-993)GCA>GTA	p.A331V	KIAA1310_uc002swh.3_Missense_Mutation_p.A219V|KIAA1310_uc002swi.3_Missense_Mutation_p.A232V|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.A244V|KIAA1310_uc010fhz.2_Missense_Mutation_p.A125V|KIAA1310_uc002swl.3_Missense_Mutation_p.A232V|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.A125V|KIAA1310_uc002swp.1_Missense_Mutation_p.A232V|KIAA1310_uc002swq.1_Missense_Mutation_p.A103V|KIAA1310_uc010fhy.1_Missense_Mutation_p.A232V	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	331											0						GCTTCTCACTGCCCCAATCAT	0.517													A	97278221	G	A	97278221	3	1	273	1	0	0	0	0	1	0	0	0	8222	1319	46	2	1700	2	KIAA1310	2	97278221	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	337435	97278221	145921152	227	137524											
ANKRD23	200539	broad.mit.edu	37	chr2	97507821	97507822	+	Frame_Shift_Ins	INS	-	-	G													ccaggggctcaggtttcctgINSggggggactctgtgtctcag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:97507820_97507821T>TG	uc002sxa.3	-	2	305_306	c.276_277A>CA	c.(274-279)cccaggfs	p.P92fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Ins_p.P92fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	92						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.53													G	97507822	-	G	97507821	7	5	273	1	0	1	1	0	0	0	0	0	652	1335	47	0	669	0	ANKRD23	2	97507821	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	229600	97507821	145691552	228	137525											
EIF5B	9669	broad.mit.edu	37	chr2	99977674	99977675	+	Frame_Shift_Ins	INS	-	-	A													aaagaaaggacagaagggcaINSaaaaacagagttttgatgat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:99977673_99977674C>CA	uc002tab.3	+	3	493_494	c.309_310C>CA	c.(307-312)ggcaaafs	p.G103fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	103					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						GACAGAAGGGCAAAAAACAGAG	0.312													A	99977675	-	A	99977674	7	5	273	1	0	1	1	0	0	0	0	0	5044	131	5	0	324	0	EIF5B	2	99977674	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2469853	99977674	143221699	229	137526											
TBC1D8	11138	broad.mit.edu	37	chr2	101644789	101644789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggaatcccggatcaggtcCgaaatatcagtcacagggta	11	9	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:101644789C>T	uc010fiv.2	-	13	2414	c.2283G>A	c.(2281-2283)TCG>TCA	p.S761S	TBC1D8_uc002tau.3_Silent_p.S518S	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	761					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						GGATCAGGTCCGAAATATCAG	0.587													T	101644789	C	T	101644789	2	4	273	1	0	0	0	0	0	0	0	1	15622	639	23	1		1	TBC1D8	2	101644789	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1667115	101644789	141554584	230	137527											
CREG2	200407	broad.mit.edu	37	chr2	102003685	102003685	+	Frame_Shift_Del	DEL	G	G	-													caggtgcgcgtcctccttgtGggcagaggcggggaagcttt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:102003685delG	uc002tba.2	-	1	281	c.235delC	c.(235-237)CACfs	p.H79fs		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	79						extracellular region	FMN binding			ovary(1)	1						TCCTCCTTGTGGGCAGAGGCG	0.522													-	102003685	G	-	102003685	7	5	273	1	0	1	0	1	0	0	0	0	3865	1348	47	0	653	0	CREG2	2	102003685	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	358896	102003685	141195688	231	137528											
IL1R2	7850	broad.mit.edu	37	chr2	102626108	102626108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtagccctgaggtgccCccaggtgccctactggttgt	13	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:102626108C>A	uc002tbm.2	+	3	381	c.152C>A	c.(151-153)CCC>CAC	p.P51H	IL1R2_uc002tbn.2_Missense_Mutation_p.P51H|IL1R2_uc002tbo.1_Missense_Mutation_p.P51H	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	51	Extracellular (Potential).|Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	CTGAGGTGCCCCCAGGTGCCC	0.597													A	102626108	C	A	102626108	3	1	273	1	0	0	0	0	1	0	0	0	7659	623	22	5	158	5	IL1R2	2	102626108	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	622423	102626108	140573265	232	137529											
SLC9A4	389015	broad.mit.edu	37	chr2	103095324	103095324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctctaccacaggctgccaGgcctcatgccagaaagctgc	9	16	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:103095324G>T	uc002tbz.3	+	2	740	c.283G>T	c.(283-285)GGC>TGC	p.G95C		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	95	Helical; Name=C/M3; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CAGGCTGCCAGGCCTCATGCC	0.582													T	103095324	G	T	103095324	3	4	273	1	0	0	0	0	1	0	0	0	14716	1000	35	5	289	5	SLC9A4	2	103095324	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	469216	103095324	140104049	233	137530											
GPR45	11250	broad.mit.edu	37	chr2	105858772	105858772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggccaaggtgatcatcGcggtctcctgggtgctgtcc	15	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:105858772G>A	uc002tco.1	+	1	573	c.457G>A	c.(457-459)GCG>ACG	p.A153T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	153	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GGTGATCATCGCGGTCTCCTG	0.682													A	105858772	G	A	105858772	3	1	273	1	0	0	0	0	1	0	0	0	6696	1087	38	1	459	1	GPR45	2	105858772	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2763448	105858772	137340601	234	137531											
C2orf40	84417	broad.mit.edu	37	chr2	106690423	106690423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgaagcgccagaagcGgcagctgtgggaccggactc	15	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:106690423G>A	uc010fjf.2	+	3	317	c.209G>A	c.(208-210)CGG>CAG	p.R70Q		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	70						extracellular region|transport vesicle					0						CGCCAGAAGCGGCAGCTGTGG	0.552													A	106690423	G	A	106690423	3	1	273	1	0	0	0	0	1	0	0	0	2165	1116	39	1	219	1	C2orf40	2	106690423	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	831651	106690423	136508950	235	137532											
SULT1C4	27233	broad.mit.edu	37	chr2	108994925	108994925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctggaacttccaagccaaGcctgatgacctgcttatttc	7	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:108994925G>T	uc002tea.1	+	1	505	c.132G>T	c.(130-132)AAG>AAT	p.K44N	SULT1C4_uc002tdz.2_Missense_Mutation_p.K44N|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.K44N	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	44					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						TCCAAGCCAAGCCTGATGACC	0.478													T	108994925	G	T	108994925	3	4	273	1	0	0	0	0	1	0	0	0	15376	962	34	5	134	5	SULT1C4	2	108994925	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2304502	108994925	134204448	236	137533											
CCDC74B	91409	broad.mit.edu	37	chr2	130897929	130897929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcctgcgttagaggcCtctgctttctcctttctgaa	9	13	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:130897929C>A	uc002tqm.1	-	5	761	c.699G>T	c.(697-699)GAG>GAT	p.E233D	CCDC74B_uc010yzw.1_Missense_Mutation_p.E335D|CCDC74B_uc002tqn.1_Missense_Mutation_p.E167D	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	233											0	Colorectal(110;0.1)					CGTTAGAGGCCTCTGCTTTCT	0.637													A	130897929	C	A	130897929	3	1	273	1	0	0	0	0	1	0	0	0	2848	680	24	5	459	5	CCDC74B	2	130897929	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	21903004	130897929	112301444	237	137534											
ARHGEF4	50649	broad.mit.edu	37	chr2	131801095	131801095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcgagttacacagcctcAagccaaaagccagcagcgaa	9	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:131801095A>G	uc002tsa.1	+	11	2058	c.1538A>G	c.(1537-1539)CAA>CGA	p.Q513R	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.Q513R|ARHGEF4_uc010fmx.1_Missense_Mutation_p.Q453R|ARHGEF4_uc002tsc.1_Missense_Mutation_p.Q56R	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	513	PH.				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			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ACACAGCCTCAAGCCAAAAGC	0.532													G	131801095	A	G	131801095	3	3	273	1	0	0	0	0	1	0	0	0	908	130	5	3	1572	3	ARHGEF4	2	131801095	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	903166	131801095	111398278	238	137535											
R3HDM1	23518	broad.mit.edu	37	chr2	136396537	136396537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagaatgagttgaagtactCggaaccacgaccctggagca	12	9	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:136396537C>T	uc002tuo.2	+	14	1434	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L	R3HDM1_uc010fni.2_Missense_Mutation_p.S353L|R3HDM1_uc002tup.2_Missense_Mutation_p.S299L|R3HDM1_uc010zbh.1_Missense_Mutation_p.S187L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	355							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTGAAGTACTCGGAACCACGA	0.438													T	136396537	C	T	136396537	3	4	273	1	0	0	0	0	1	0	0	0	12887	893	31	1	1110	1	R3HDM1	2	136396537	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4595442	136396537	106802836	239	137536											
MCM6	4175	broad.mit.edu	37	chr2	136614396	136614396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgattttgatctgtcatAgtgtccactgattgggtttg	10	6	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:136614396A>G	uc002tuw.2	-	11	1604	c.1528T>C	c.(1528-1530)TAT>CAT	p.Y510H		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	510	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				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GATCTGTCATAGTGTCCACTG	0.388													G	136614396	A	G	136614396	3	3	273	1	0	0	0	0	1	0	0	0	9391	420	15	3	965	3	MCM6	2	136614396	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	217859	136614396	106584977	240	137537											
THSD7B	80731	broad.mit.edu	37	chr2	137928415	137928415	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggatccaatgtgctacCgatggctggcatcagaaggg	15	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:137928415C>A	uc002tva.1	+	6	1537	c.1537C>A	c.(1537-1539)CGA>AGA	p.R513R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.R403R	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGTGCTACCGATGGCTGGC	0.537													A	137928415	C	A	137928415	2	1	273	1	0	0	0	0	0	0	0	1	15877	644	23	5		5	THSD7B	2	137928415	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1314019	137928415	105270958	241	137538											
LRP1B	53353	broad.mit.edu	37	chr2	141660583	141660583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctcacatacttggctGcactttagatgattgctaca	8	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:141660583G>A	uc002tvj.1	-	23	4644	c.3672C>T	c.(3670-3672)TGC>TGT	p.C1224C	LRP1B_uc010fnl.1_Silent_p.C406C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1224	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		ATACTTGGCTGCACTTTAGAT	0.418										TSP Lung(27;0.18)			A	141660583	G	A	141660583	2	1	273	1	0	0	0	0	0	0	0	1	8955	1311	46	2		2	LRP1B	2	141660583	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3732168	141660583	101538790	242	137539											
MBD5	55777	broad.mit.edu	37	chr2	149240905	149240905	+	Frame_Shift_Del	DEL	C	C	-													catcttccacaccccttgaaCcccagcctcctcagttctct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:149240904_149240904AC>A	uc002twm.4	+	9	3741	c.2744_2744AC>A	c.(2743-2745)aacfs	p.N915fs	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	915						chromosome|nucleus	DNA binding|chromatin 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)		CACCCCTTGAACCCCAGCCTC	0.468													-	149240905	C	-	149240905	7	5	273	1	0	1	0	1	0	0	0	0	9347	506	18	0	2763	0	MBD5	2	149240905	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	7580322	149240905	93958468	243	137540											
LYPD6	130574	broad.mit.edu	37	chr2	150294262	150294262	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcctggctcctgctcctgAgcctgctggcggattgtctg	14	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:150294262A>C	uc002twy.2	+	2	235	c.40A>C	c.(40-42)AGC>CGC	p.S14R	LYPD6_uc010fnt.2_RNA|LYPD6_uc002twz.2_RNA|LYPD6_uc002txa.2_Missense_Mutation_p.S14R	NM_194317	NP_919298	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6 precursor	14						extracellular region					0				BRCA - Breast invasive adenocarcinoma(221;0.0667)		CCTGCTCCTGAGCCTGCTGGC	0.552													C	150294262	A	C	150294262	3	2	273	1	0	0	0	0	1	0	0	0	9114	304	11	5	42	5	LYPD6	2	150294262	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1053357	150294262	92905111	244	137541											
RIF1	55183	broad.mit.edu	37	chr2	152285396	152285396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaaaagatagcttttatTgcttggaagagtttaataga	8	2	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152285396T>C	uc002txm.2	+	9	1015	c.885T>C	c.(883-885)ATT>ATC	p.I295I	RIF1_uc002txl.2_Silent_p.I295I|RIF1_uc010fnv.1_Silent_p.I259I|RIF1_uc002txn.2_Silent_p.I295I|RIF1_uc002txo.2_Silent_p.I295I|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	295					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGCTTTTATTGCTTGGAAGA	0.318													C	152285396	T	C	152285396	2	2	273	1	0	0	0	0	0	0	0	1	13359	1800	63	3		3	RIF1	2	152285396	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1991134	152285396	90913977	245	137542											
RIF1	55183	broad.mit.edu	37	chr2	152319553	152319553	+	Frame_Shift_Del	DEL	A	A	-													aacagtaataatgatgaaagAaaaaaagctttaatttcatc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152319552_152319552GA>G	uc002txm.3	+	29	3679	c.3518_3518GA>G	c.(3517-3519)agafs	p.R1173fs	RIF1_uc002txn.3_Frame_Shift_Del_p.R1173fs|RIF1_uc002txl.3_Frame_Shift_Del_p.R1173fs|RIF1_uc002txo.3_Frame_Shift_Del_p.R1173fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1173					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)		AATGATGAAAGAAAAAAAGCT	0.353													-	152319553	A	-	152319553	7	5	273	1	0	1	0	1	0	0	0	0	13359	243	9	0	3633	0	RIF1	2	152319553	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	34157	152319553	90879820	246	137543											
NEB	4703	broad.mit.edu	37	chr2	152482131	152482131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttgggtcttgtctttgtCccaggcttctgtgtataagc	11	9	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152482131C>T	uc010fnx.2	-	67	9831	c.9640G>A	c.(9640-9642)GAC>AAC	p.D3214N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3214	Nebulin 87.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTCTTTGTCCCAGGCTTCT	0.338													T	152482131	C	T	152482131	3	4	273	1	0	0	0	0	1	0	0	0	10302	855	30	4	15765	4	NEB	2	152482131	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	162578	152482131	90717242	247	137544											
NEB	4703	broad.mit.edu	37	chr2	152497119	152497119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatcttggggtcatcaCgtatagctcgggcaccaatg	10	11	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152497119C>T	uc010fnx.2	-	61	8626	c.8435G>A	c.(8434-8436)CGT>CAT	p.R2812H	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2812	Nebulin 76.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGGTCATCACGTATAGCTCG	0.468													T	152497119	C	T	152497119	3	4	273	1	0	0	0	0	1	0	0	0	10302	536	19	1	17739	1	NEB	2	152497119	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	14988	152497119	90702254	248	137545											
ARL6IP6	151188	broad.mit.edu	37	chr2	153575445	153575445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagagcccagcctcggCggtggccggtccaggtcctc	15	16	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:153575445C>T	uc002tyn.2	+	1	1023	c.307C>T	c.(307-309)CGG>TGG	p.R103W	ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting	103						integral to membrane					0						CCAGCCTCGGCGGTGGCCGGT	0.637													T	153575445	C	T	153575445	3	4	273	1	0	0	0	0	1	0	0	0	945	759	27	1	309	1	ARL6IP6	2	153575445	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1078326	153575445	89623928	249	137546											
GALNT5	11227	broad.mit.edu	37	chr2	158115793	158115793	+	Frame_Shift_Del	DEL	C	C	-													aatcaacataactgccaaagCcccctctacagaatacaacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:158115792_158115792GC>G	uc002tzg.3	+	0	1453	c.1198_1198GC>G	c.(1198-1200)gccfs	p.A400fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	400					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AACTGCCAAAGCCCCCTCTAC	0.453													-	158115793	C	-	158115793	7	5	273	1	0	1	0	1	0	0	0	0	6216	739	26	0	1201	0	GALNT5	2	158115793	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	4540348	158115793	85083580	250	137547											
TANC1	85461	broad.mit.edu	37	chr2	160027229	160027229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggatttgggaagacgGcaatcatttccaagttggtg	14	5	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:160027229G>A	uc002uag.2	+	10	1538	c.1264G>A	c.(1264-1266)GCA>ACA	p.A422T	TANC1_uc010fol.1_Missense_Mutation_p.A316T|TANC1_uc010zcm.1_Missense_Mutation_p.A414T|TANC1_uc010fom.1_Missense_Mutation_p.A228T	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	422						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TGGGAAGACGGCAATCATTTC	0.517													A	160027229	G	A	160027229	3	1	273	1	0	0	0	0	1	0	0	0	15541	1203	42	2	1294	2	TANC1	2	160027229	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1911436	160027229	83172144	251	137548											
ITGB6	3694	broad.mit.edu	37	chr2	161051958	161051958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaagatccgaagcccAgtctaaagttgctggttaat	8	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:161051958A>G	uc002ubh.2	-	4	531	c.515T>C	c.(514-516)CTG>CCG	p.L172P	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.L172P|ITGB6_uc010zcq.1_Missense_Mutation_p.L130P|ITGB6_uc010fov.1_Missense_Mutation_p.L172P	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	172	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TCCGAAGCCCAGTCTAAAGTT	0.458													G	161051958	A	G	161051958	3	3	273	1	0	0	0	0	1	0	0	0	7899	188	7	3	1899	3	ITGB6	2	161051958	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1024729	161051958	82147415	252	137549											
SLC4A10	57282	broad.mit.edu	37	chr2	162760684	162760684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaagcaactgaagggcGtatagtatgtattatgcttt	13	4	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:162760684G>A	uc002ubx.3	+	13	1797	c.1613G>A	c.(1612-1614)CGT>CAT	p.R538H	SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R508H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R519H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	538	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ACTGAAGGGCGTATAGTATGT	0.383													A	162760684	G	A	162760684	3	1	273	1	0	0	0	0	1	0	0	0	14651	1145	40	1	1748	1	SLC4A10	2	162760684	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1708726	162760684	80438689	253	137550											
KCNH7	90134	broad.mit.edu	37	chr2	163279956	163279956	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaatgaactcttttactcGcagcatctgcatgtggtacc	9	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:163279956G>A	uc002uch.1	-	9	2256	c.2044C>T	c.(2044-2046)CGA>TGA	p.R682*	KCNH7_uc002uci.2_Nonsense_Mutation_p.R675*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	682	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TCTTTTACTCGCAGCATCTGC	0.443													A	163279956	G	A	163279956	4	1	273	1	0	0	0	0	0	1	0	0	8037	1095	38	1	1644	1	KCNH7	2	163279956	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	519272	163279956	79919417	254	137551											
FIGN	55137	broad.mit.edu	37	chr2	164466809	164466809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccgtcagtccactgaaCgcgtctgacctcaacactgg	10	14	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:164466809C>T	uc002uck.1	-	3	1844	c.1533G>A	c.(1531-1533)GCG>GCA	p.A511A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	511						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GTCCACTGAACGCGTCTGACC	0.537													T	164466809	C	T	164466809	2	4	273	1	0	0	0	0	0	0	0	1	5891	523	19	1		1	FIGN	2	164466809	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1186853	164466809	78732564	255	137552											
SCN7A	6332	broad.mit.edu	37	chr2	167318977	167318977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagccaaaactgtcaaaAtttgtgaagccttgatcagg	9	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:167318977A>C	uc002udu.1	-	9	1132	c.1005T>G	c.(1003-1005)AAT>AAG	p.N335K	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	335					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						AACTGTCAAAATTTGTGAAGC	0.388													C	167318977	A	C	167318977	3	2	273	1	0	0	0	0	1	0	0	0	13923	98	4	5	4111	5	SCN7A	2	167318977	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2852168	167318977	75880396	256	137553											
KBTBD10	10324	broad.mit.edu	37	chr2	170371384	170371385	+	Frame_Shift_Ins	INS	-	-	A													gctgcaaaatggaacgaagtINSaaaaaaactccctatcaaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:170371384_170371385insA	uc002ueu.1	+	3	1366_1367	c.1289_1290insA	c.(1288-1290)GTAfs	p.V430fs	KBTBD10_uc010zdh.1_Frame_Shift_Ins_p.V368fs	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	430	Kelch 2.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						TGGAACGAAGTAAAAAAACTCC	0.351													A	170371385	-	A	170371384	7	5	273	1	0	1	1	0	0	0	0	0	7990	1638	57	0	1299	0	KBTBD10	2	170371384	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3052407	170371384	72827989	257	137554	715	2									
KBTBD10	10324	broad.mit.edu	37	chr2	170371385	170371386	+	Frame_Shift_Ins	INS	-	-	A													ctgcaaaatggaacgaagtaINSaaaaaactccctatcaaagt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:170371384_170371385T>TA	uc002ueu.1	+	2	1366_1367	c.1289_1290T>TA	c.(1288-1290)gtafs	p.V430fs	KBTBD10_uc010zdh.1_Frame_Shift_Ins_p.V368fs	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	430					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TGGAACGAAGTAAAAAAACTCC	0.351													A	170371386	-	A	170371385	7	5	273	1	0	1	1	0	0	0	0	0	7990	349	13	0	1300	0	KBTBD10	2	170371385	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	170371385	72827988	258	137555	715	2									
FASTKD1	79675	broad.mit.edu	37	chr2	170416934	170416934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaatgggtcccaatgCtacaaacaattttacaaagc	6	11	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:170416934C>T	uc002uev.3	-	5	1322	c.934G>A	c.(934-936)GCA>ACA	p.A312T	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.A298T|FASTKD1_uc002uey.2_Missense_Mutation_p.A275T	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	312					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						GGTCCCAATGCTACAAACAAT	0.333													T	170416934	C	T	170416934	3	4	273	1	0	0	0	0	1	0	0	0	5685	797	28	2	1653	2	FASTKD1	2	170416934	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	45549	170416934	72782439	259	137556											
SP3	6670	broad.mit.edu	37	chr2	174819995	174819995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtctgtggtgtaatAccttgcacaatttgggcttg	12	6	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:174819995A>G	uc002uig.2	-	4	1409	c.1245T>C	c.(1243-1245)GGT>GGC	p.G415G	SP3_uc002uie.2_Silent_p.G347G|SP3_uc002uif.2_Silent_p.G362G|SP3_uc010zel.1_Silent_p.G412G	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	415	Transactivation domain (Gln-rich).				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)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGGTGTAATACCTTGCACAA	0.443													G	174819995	A	G	174819995	2	3	273	1	0	0	0	0	0	0	0	1	14965	378	14	3		3	SP3	2	174819995	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4403061	174819995	68379378	260	137557											
GPR155	151556	broad.mit.edu	37	chr2	175318565	175318565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccatggagcaggagcaGcaacctatatcaatcaaata	7	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:175318565G>A	uc002uit.2	-	12	2167	c.1776C>T	c.(1774-1776)TGC>TGT	p.C592C	GPR155_uc002uiu.2_Silent_p.C592C|GPR155_uc002uiv.2_Silent_p.C592C|GPR155_uc010fqs.2_Silent_p.C564C	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	592					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						AGCAGGAGCAGCAACCTATAT	0.403													A	175318565	G	A	175318565	2	1	273	1	0	0	0	0	0	0	0	1	6660	963	34	2		2	GPR155	2	175318565	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	498570	175318565	67880808	261	137558											
HOXD13	3239	broad.mit.edu	37	chr2	176958067	176958067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggcttacagcagaatgCgctcaagtcatcgccgcacg	12	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:176958067C>T	uc002ukf.1	+	1	536	c.449C>T	c.(448-450)GCG>GTG	p.A150V		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	150					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CAGCAGAATGCGCTCAAGTCA	0.657			T	NUP98	AML*								T	176958067	C	T	176958067	3	4	273	1	0	0	0	0	1	0	0	0	7322	768	27	1	451	1	HOXD13	2	176958067	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1639502	176958067	66241306	262	137559											
HOXD4	3233	broad.mit.edu	37	chr2	177016573	177016573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcggccccgggcctggctCggcgctgcctgcgcggggtc	18	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:177016573C>T	uc002uks.2	+	1	461	c.212C>T	c.(211-213)TCG>TTG	p.S71L		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	71						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGGCCTGGCTCGGCGCTGCCT	0.692													T	177016573	C	T	177016573	3	4	273	1	0	0	0	0	1	0	0	0	7324	893	31	1	214	1	HOXD4	2	177016573	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	58506	177016573	66182800	263	137560											
TTN	7273	broad.mit.edu	37	chr2	179421600	179421600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcgatgcaagtaatgggCcctacaacctcagatggatt	10	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179421600C>T	uc010zfg.1	-	279	80801	c.80577G>A	c.(80575-80577)GGG>GGA	p.G26859G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G20554G|TTN_uc010zfi.1_Silent_p.G20487G|TTN_uc010zfj.1_Silent_p.G20362G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27786							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAATGGGCCCTACAACCT	0.398													T	179421600	C	T	179421600	2	4	273	1	0	0	0	0	0	0	0	1	16732	726	26	2		2	TTN	2	179421600	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2405027	179421600	63777773	264	137561											
TTN	7273	broad.mit.edu	37	chr2	179474580	179474580	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcttccacctttcttcAcccttagcaatcttctctat	1	16	5	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179474580A>C	uc010zfg.1	-	221	44090	c.43866T>G	c.(43864-43866)GGT>GGG	p.G14622G	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8317G|TTN_uc010zfi.1_Silent_p.G8250G|TTN_uc010zfj.1_Silent_p.G8125G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15549							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCTTCACCCTTAGCAA	0.453													C	179474580	A	C	179474580	2	2	273	1	0	0	0	0	0	0	0	1	16732	146	6	5		5	TTN	2	179474580	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	52980	179474580	63724793	265	137562											
TTN	7273	broad.mit.edu	37	chr2	179480133	179480133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgaaccaccatcatttTtaggtggatcccatgttaag	9	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179480133T>C	uc010zfg.1	-	208	41059	c.40835A>G	c.(40834-40836)AAA>AGA	p.K13612R	TTN_uc010zfh.1_Missense_Mutation_p.K7307R|TTN_uc010zfi.1_Missense_Mutation_p.K7240R|TTN_uc010zfj.1_Missense_Mutation_p.K7115R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14539							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATCATTTTTAGGTGGATC	0.433													C	179480133	T	C	179480133	3	2	273	1	0	0	0	0	1	0	0	0	16732	1841	64	3	59570	3	TTN	2	179480133	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	5553	179480133	63719240	266	137563											
TTN	7273	broad.mit.edu	37	chr2	179485026	179485026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggcaggagaagacagCgtcatcgaactcagtgactg	14	9	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179485026C>T	uc010zfg.1	-	197	38742	c.38518G>A	c.(38518-38520)GCT>ACT	p.A12840T	TTN_uc010zfh.1_Missense_Mutation_p.A6535T|TTN_uc010zfi.1_Missense_Mutation_p.A6468T|TTN_uc010zfj.1_Missense_Mutation_p.A6343T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13767							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGAAGACAGCGTCATCGAAC	0.428													T	179485026	C	T	179485026	3	4	273	1	0	0	0	0	1	0	0	0	16732	768	27	1	61931	1	TTN	2	179485026	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4893	179485026	63714347	267	137564											
TTN	7273	broad.mit.edu	37	chr2	179583661	179583661	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctcattccaggcaaaActtccacagaatcaggggtt	10	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179583661A>C	uc010zfg.1	-	81	20758	c.20534T>G	c.(20533-20535)GTT>GGT	p.V6845G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V3506G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7772							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGGCAAAACTTCCACAGA	0.483													C	179583661	A	C	179583661	3	2	273	1	0	0	0	0	1	0	0	0	16732	43	2	5	80379	5	TTN	2	179583661	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	98635	179583661	63615712	268	137565											
TTN	7273	broad.mit.edu	37	chr2	179637974	179637974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatatttagaactgggctTgatttccttgtccttaaaat	6	6	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179637974T>C	uc010zfg.1	-	33	7941	c.7717A>G	c.(7717-7719)AAG>GAG	p.K2573E	TTN_uc010zfh.1_Missense_Mutation_p.K2527E|TTN_uc010zfi.1_Missense_Mutation_p.K2527E|TTN_uc010zfj.1_Missense_Mutation_p.K2527E|TTN_uc002unb.2_Missense_Mutation_p.K2573E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2573							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTGGGCTTGATTTCCTTG	0.353													C	179637974	T	C	179637974	3	2	273	1	0	0	0	0	1	0	0	0	16732	1821	63	3	103591	3	TTN	2	179637974	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	54313	179637974	63561399	269	137566											
ITGA4	3676	broad.mit.edu	37	chr2	182339713	182339713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaatggagaaccttgtggaAagacttgtttggaagagaga	13	4	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:182339713A>G	uc002unu.2	+	3	1109	c.346A>G	c.(346-348)AAG>GAG	p.K116E	ITGA4_uc010zfl.1_Missense_Mutation_p.K116E	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	116	FG-GAP 2.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACCTTGTGGAAAGACTTGTTT	0.413													G	182339713	A	G	182339713	3	3	273	1	0	0	0	0	1	0	0	0	7878	15	1	3	356	3	ITGA4	2	182339713	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2701739	182339713	60859660	270	137567											
NEUROD1	4760	broad.mit.edu	37	chr2	182543576	182543576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcccactctcgctgtaCgatttggtcatgtttcgatt	8	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:182543576C>T	uc002uof.2	-	2	248	c.12G>A	c.(10-12)TCG>TCA	p.S4S	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	4					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCTCGCTGTACGATTTGGTCA	0.507													T	182543576	C	T	182543576	2	4	273	1	0	0	0	0	0	0	0	1	10348	523	19	1		1	NEUROD1	2	182543576	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	203863	182543576	60655797	271	137568											
NCKAP1	10787	broad.mit.edu	37	chr2	183829478	183829478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcaattgagtatcttgAttgagagggtaactccaaac	9	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:183829478A>G	uc002upc.2	-	17	2089	c.1687T>C	c.(1687-1689)TCA>CCA	p.S563P	NCKAP1_uc002upb.2_Missense_Mutation_p.S569P	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	563					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAGTATCTTGATTGAGAGGGT	0.328													G	183829478	A	G	183829478	3	3	273	1	0	0	0	0	1	0	0	0	10221	333	12	3	1759	3	NCKAP1	2	183829478	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1285902	183829478	59369895	272	137569											
ITGAV	3685	broad.mit.edu	37	chr2	187501806	187501806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaggttattctgtggctGtcggagatttcaatggtgat	13	4	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:187501806G>A	uc002upq.2	+	8	1048	c.772G>A	c.(772-774)GTC>ATC	p.V258I	ITGAV_uc010frs.2_Missense_Mutation_p.V222I|ITGAV_uc010zfv.1_Missense_Mutation_p.V212I	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	258	FG-GAP 4.|Extracellular (Potential).				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			ovary(2)|kidney(1)|skin(1)	4			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)		TTCTGTGGCTGTCGGAGATTT	0.368													A	187501806	G	A	187501806	3	1	273	1	0	0	0	0	1	0	0	0	7888	1377	48	4	853	4	ITGAV	2	187501806	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3672328	187501806	55697567	273	137570											
COL5A2	1290	broad.mit.edu	37	chr2	189927992	189927992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggccatcttcccctggcGcaccctatagaattgacagg	10	14	1	2	rs145169816	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:189927992G>A	uc002uqk.2	-	27	2050	c.1775C>T	c.(1774-1776)GCG>GTG	p.A592V	COL5A2_uc010frx.2_Missense_Mutation_p.A168V	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	592					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCCCCTGGCGCACCCTATAG	0.507													A	189927992	G	A	189927992	3	1	273	1	0	0	0	0	1	0	0	0	3697	1087	38	1	2836	1	COL5A2	2	189927992	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2426186	189927992	53271381	274	137571											
ASNSD1	54529	broad.mit.edu	37	chr2	190531821	190531821	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtgataggaaagcaaaTgttgcaatcctgttttctgg	11	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:190531821T>C	uc002uqt.2	+	4	1397	c.963T>C	c.(961-963)AAT>AAC	p.N321N		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	321	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GGAAAGCAAATGTTGCAATCC	0.403													C	190531821	T	C	190531821	2	2	273	1	0	0	0	0	0	0	0	1	1049	1461	51	3		3	ASNSD1	2	190531821	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	603829	190531821	52667552	275	137572											
DNAH7	56171	broad.mit.edu	37	chr2	196837015	196837015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctttaatgattttcctgTgttcttcaaaaatttctccc	3	10	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:196837015T>A	uc002utj.3	-	16	2110	c.2009A>T	c.(2008-2010)CAC>CTC	p.H670L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	670	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GATTTTCCTGTGTTCTTCAAA	0.338													A	196837015	T	A	196837015	3	1	273	1	0	0	0	0	1	0	0	0	4606	1696	59	5	10265	5	DNAH7	2	196837015	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6305194	196837015	46362358	276	137573											
AOX1	316	broad.mit.edu	37	chr2	201501717	201501717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagcgtttggagggaaGgtgttaaaaaccggaatcat	16	4	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:201501717G>A	uc002uvx.2	+	22	2531	c.2430G>A	c.(2428-2430)AAG>AAA	p.K810K	AOX1_uc010zhf.1_Silent_p.K366K|AOX1_uc010fsu.2_Silent_p.K176K	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	810					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			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGAGGGAAGGTGTTAAAAA	0.443													A	201501717	G	A	201501717	2	1	273	1	0	0	0	0	0	0	0	1	729	991	35	4		4	AOX1	2	201501717	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4664702	201501717	41697656	277	137574											
BZW1	9689	broad.mit.edu	37	chr2	201683103	201683103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacagatgtcccgtggtgAtccatttaaggatgtaagtt	11	6	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:201683103A>G	uc010zhg.1	+	8	954	c.902A>G	c.(901-903)GAT>GGT	p.D301G	BZW1_uc002uwc.2_Missense_Mutation_p.D269G|BZW1_uc010zhh.1_Missense_Mutation_p.D269G	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	269	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						TCCCGTGGTGATCCATTTAAG	0.413													G	201683103	A	G	201683103	3	3	273	1	0	0	0	0	1	0	0	0	1578	333	12	3	832	3	BZW1	2	201683103	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	181386	201683103	41516270	278	137575											
FAM126B	285172	broad.mit.edu	37	chr2	201862260	201862260	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagaaaactcaggacttcAaacctaaaaacaacaaatgc	5	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:201862260A>G	uc002uws.3	-	8	722	c.534T>C	c.(532-534)TTT>TTC	p.F178F	FAM126B_uc002uwu.2_Silent_p.F96F|FAM126B_uc002uwv.2_Silent_p.F178F|FAM126B_uc002uww.1_Silent_p.F178F	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	178						intracellular				ovary(1)	1						TCAGGACTTCAAACCTAAAAA	0.353													G	201862260	A	G	201862260	2	3	273	1	0	0	0	0	0	0	0	1	5430	127	5	3		3	FAM126B	2	201862260	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	179157	201862260	41337113	279	137576											
CFLAR	8837	broad.mit.edu	37	chr2	202025304	202025304	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtgtgtcctggtgagcCgaggaggctcccagagtgtg	17	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:202025304C>A	uc002uxb.3	+	9	1395	c.943C>A	c.(943-945)CGA>AGA	p.R315R	CFLAR_uc010zhk.1_Silent_p.R219R|CFLAR_uc002uxc.3_Silent_p.R280R|CFLAR_uc010zhl.1_Silent_p.R219R|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.R315R|CFLAR_uc002uxf.2_Silent_p.R315R|CFLAR_uc010fsy.2_Intron|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Silent_p.R219R|CFLAR_uc010fsz.2_Silent_p.R70R|CFLAR_uc002uxg.2_Silent_p.R70R|uc002uxh.1_5'Flank	NM_003879	NP_003870	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator isoform	315	Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Caspase.|Interaction with caspase-8 subunits p18 and p10.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding				0						CCTGGTGAGCCGAGGAGGCTC	0.527													A	202025304	C	A	202025304	2	1	273	1	0	0	0	0	0	0	0	1	3292	644	23	5		5	CFLAR	2	202025304	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	163044	202025304	41174069	280	137577											
CDK15	65061	broad.mit.edu	37	chr2	202672641	202672641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttggagaagctgggtgaaGgctcttatgcgacagtttac	13	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:202672641G>T	uc002uyt.2	+	3	383	c.334G>T	c.(334-336)GGC>TGC	p.G112C	CDK15_uc010ftm.2_Translation_Start_Site|CDK15_uc002uys.2_Missense_Mutation_p.G61C|CDK15_uc010ftn.1_Missense_Mutation_p.G61C|CDK15_uc010fto.1_Missense_Mutation_p.G112C	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	112	ATP (By similarity).|Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	GCTGGGTGAAGGCTCTTATGC	0.378													T	202672641	G	T	202672641	3	4	273	1	0	0	0	0	1	0	0	0	3131	1000	35	5	187	5	CDK15	2	202672641	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	647337	202672641	40526732	281	137578											
CDK15	65061	broad.mit.edu	37	chr2	202737024	202737024	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttcccactgcctacgcctCgaagccttcatgttgtctgg	10	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:202737024C>T	uc002uyt.2	+	11	1082	c.1033C>T	c.(1033-1035)CGA>TGA	p.R345*	CDK15_uc010ftm.2_Nonsense_Mutation_p.R210*|CDK15_uc002uys.2_Nonsense_Mutation_p.R294*|CDK15_uc010ftn.1_Nonsense_Mutation_p.R294*|CDK15_uc002uyu.1_Intron	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	345	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	GCCTACGCCTCGAAGCCTTCA	0.398													T	202737024	C	T	202737024	4	4	273	1	0	0	0	0	0	1	0	0	3131	876	31	1	918	1	CDK15	2	202737024	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	64383	202737024	40462349	282	137579											
NRP2	8828	broad.mit.edu	37	chr2	206628531	206628532	+	Frame_Shift_Ins	INS	-	-	G													accaggccacgggcggccgcINSggggtggcgctgcaggtggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:206628531_206628532insG	uc002vaw.2	+	13	2969_2970	c.2178_2179insG	c.(2176-2181)CGCGGGfs	p.R726fs	NRP2_uc002vau.2_Frame_Shift_Ins_p.R726fs|NRP2_uc002vav.2_Frame_Shift_Ins_p.R726fs|NRP2_uc002vax.2_Frame_Shift_Ins_p.R726fs|NRP2_uc002vay.2_Frame_Shift_Ins_p.R726fs	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	726_727	Extracellular (Potential).|MAM.				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			skin(2)|ovary(1)|central_nervous_system(1)	4						CGGGCGGCCGCGGGGTGGCGCT	0.688											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	206628532	-	G	206628531	7	5	273	1	0	1	1	0	0	0	0	0	10661	755	27	0	2255	0	NRP2	2	206628531	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3891507	206628531	36570842	283	137580	716	2									
NRP2	8828	broad.mit.edu	37	chr2	206628532	206628533	+	Frame_Shift_Ins	INS	-	-	G													ccaggccacgggcggccgcgINSgggtggcgctgcaggtggtg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:206628531_206628532C>CG	uc002vaw.3	+	12	2969_2970	c.2178_2179C>CG	c.(2176-2181)cgcgggfs	p.R726fs	NRP2_uc002vau.3_Frame_Shift_Ins_p.R726fs|NRP2_uc002vav.3_Frame_Shift_Ins_p.R726fs|NRP2_uc002vax.3_Frame_Shift_Ins_p.R726fs|NRP2_uc002vay.3_Frame_Shift_Ins_p.R726fs	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	726	MAM.				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						CGGGCGGCCGCGGGGTGGCGCT	0.688											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	206628533	-	G	206628532	7	5	273	1	0	1	1	0	0	0	0	0	10661	1116	39	0	2256	0	NRP2	2	206628532	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	206628532	36570841	284	137581	716	2									
CPO	130749	broad.mit.edu	37	chr2	207834072	207834072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctggatgatgtgtatgCgaaacactggcactcggaca	12	9	0	1	rs144914072		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:207834072C>T	uc002vby.2	+	9	1083	c.1037C>T	c.(1036-1038)GCG>GTG	p.A346V		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	346					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GATGTGTATGCGAAACACTGG	0.547													T	207834072	C	T	207834072	3	4	273	1	0	0	0	0	1	0	0	0	3820	768	27	1	1071	1	CPO	2	207834072	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1205540	207834072	35365301	285	137582											
CPS1	1373	broad.mit.edu	37	chr2	211512694	211512694	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcacaagccccctgcagatCgacagggctgaggatcgctc	13	14	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:211512694C>T	uc002vee.3	+	26	3381	c.3249C>T	c.(3247-3249)ATC>ATT	p.I1083I	CPS1_uc010fur.2_Silent_p.I1089I|CPS1_uc010fus.2_Silent_p.I632I	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1083					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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCTGCAGATCGACAGGGCTG	0.502													T	211512694	C	T	211512694	2	4	273	1	0	0	0	0	0	0	0	1	3823	874	31	1		1	CPS1	2	211512694	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3678622	211512694	31686679	286	137583											
ERBB4	2066	broad.mit.edu	37	chr2	212426654	212426654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatctggacacaccagttaaGcagcagttgtgatccaatgt	9	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:212426654G>T	uc002veg.1	-	20	2559	c.2461C>A	c.(2461-2463)CTT>ATT	p.L821I	ERBB4_uc002veh.1_Missense_Mutation_p.L821I|ERBB4_uc010zji.1_Missense_Mutation_p.L811I|ERBB4_uc010zjj.1_Missense_Mutation_p.L811I|ERBB4_uc010fut.1_Missense_Mutation_p.L821I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	821	Protein kinase.|Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		CACCAGTTAAGCAGCAGTTGT	0.423										TSP Lung(8;0.080)			T	212426654	G	T	212426654	3	4	273	1	0	0	0	0	1	0	0	0	5209	971	34	5	1501	5	ERBB4	2	212426654	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	913960	212426654	30772719	287	137584											
SPAG16	79582	broad.mit.edu	37	chr2	214727247	214727247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagacatcctagtctcctGtggcgaggaccgactctgga	11	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:214727247G>A	uc002veq.2	+	11	1201	c.1109G>A	c.(1108-1110)TGT>TAT	p.C370Y	SPAG16_uc010fuz.1_Missense_Mutation_p.C221Y|SPAG16_uc002ver.2_Missense_Mutation_p.C316Y|SPAG16_uc010zjk.1_Missense_Mutation_p.C276Y	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	370	WD 1.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		CTAGTCTCCTGTGGCGAGGAC	0.483													A	214727247	G	A	214727247	3	1	273	1	0	0	0	0	1	0	0	0	14978	1377	48	4	1167	4	SPAG16	2	214727247	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2300593	214727247	28472126	288	137585											
RNF25	64320	broad.mit.edu	37	chr2	219530916	219530916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatgacacactggccaTgagggatgttgttatctgtg	14	7	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219530916T>C	uc002vit.2	-	6	483	c.395A>G	c.(394-396)CAT>CGT	p.H132R	RNF25_uc010fvw.2_Missense_Mutation_p.H20R	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	132					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACTGGCCATGAGGGATGTT	0.517													C	219530916	T	C	219530916	3	2	273	1	0	0	0	0	1	0	0	0	13485	1464	51	3	1004	3	RNF25	2	219530916	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4803669	219530916	23668457	289	137586											
WNT6	7475	broad.mit.edu	37	chr2	219736502	219736502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggacgcggagacatccgCgcgttggtgcaactgcacaa	15	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219736502C>T	uc002vjc.1	+	3	812	c.597C>T	c.(595-597)CGC>CGT	p.R199R		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	199					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			ovary(2)|skin(1)	3		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)		GAGACATCCGCGCGTTGGTGC	0.652													T	219736502	C	T	219736502	2	4	273	1	0	0	0	0	0	0	0	1	17390	755	27	1		1	WNT6	2	219736502	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	205586	219736502	23462871	290	137587											
WNT6	7475	broad.mit.edu	37	chr2	219738385	219738385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccggctcccccggcacgCgcggtcgcgcctgcaatagc	13	19	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219738385C>T	uc002vjc.1	+	4	1131	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	306					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			ovary(2)|skin(1)	3		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)		CCCCGGCACGCGCGGTCGCGC	0.741													T	219738385	C	T	219738385	3	4	273	1	0	0	0	0	1	0	0	0	17390	768	27	1	930	1	WNT6	2	219738385	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1883	219738385	23460988	291	137588											
CDK5R2	8941	broad.mit.edu	37	chr2	219824884	219824884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggatccccccgacggCggcggcaccgccaagcccct	14	20	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219824884C>T	uc002vjf.2	+	1	487	c.342C>T	c.(340-342)GGC>GGT	p.G114G		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	114					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCGACGGCGGCGGCACCG	0.761													T	219824884	C	T	219824884	2	4	273	1	0	0	0	0	0	0	0	1	3144	755	27	1		1	CDK5R2	2	219824884	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	86499	219824884	23374489	292	137589											
CCDC108	255101	broad.mit.edu	37	chr2	219900328	219900328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgccccagatgaccctcTtgttcactctctcctgcttc	5	17	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219900328T>C	uc002vjl.1	-	5	500	c.416A>G	c.(415-417)AAG>AGG	p.K139R	CCDC108_uc010zkp.1_Missense_Mutation_p.K128R|CCDC108_uc010zkq.1_Missense_Mutation_p.K74R|CCDC108_uc002vjn.2_Missense_Mutation_p.K74R	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	139						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		GATGACCCTCTTGTTCACTCT	0.537													C	219900328	T	C	219900328	3	2	273	1	0	0	0	0	1	0	0	0	2743	1609	56	3	5633	3	CCDC108	2	219900328	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	75444	219900328	23299045	293	137590											
ATG9A	79065	broad.mit.edu	37	chr2	220089143	220089143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgcttcagcacctcaGcatagctgaagaaggcatag	10	13	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:220089143G>A	uc002vke.1	-	8	1136	c.950C>T	c.(949-951)GCT>GTT	p.A317V	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A317V	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	317	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGCATAGCTGAA	0.607													A	220089143	G	A	220089143	3	1	273	1	0	0	0	0	1	0	0	0	1102	971	34	2	1605	2	ATG9A	2	220089143	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	188815	220089143	23110230	294	137591											
SPEG	10290	broad.mit.edu	37	chr2	220333585	220333585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcctttctgcaggctgCcccatggaggagagtgagaa	12	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:220333585C>T	uc010fwg.2	+	12	3306	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1102	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		CTGCAGGCTGCCCCATGGAGG	0.682													T	220333585	C	T	220333585	2	4	273	1	0	0	0	0	0	0	0	1	15035	747	26	2		2	SPEG	2	220333585	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	244442	220333585	22865788	295	137592											
IRS1	3667	broad.mit.edu	37	chr2	227661672	227661673	+	Frame_Shift_Ins	INS	-	-	A													gggcggtggtgccccccccgINSacgctccaaggggtgcattt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:227661671_227661672C>CA	uc021vxn.1	-	0	1783_1784	c.1783_1784G>TG	c.(1783-1785)cggfs	p.R595fs	IRS1_uc002voh.4_Frame_Shift_Ins_p.R595fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	595					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	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C 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)		GTGCCCCCCCCGACGCTCCAAG	0.688											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227661673	-	A	227661672	7	5	273	1	0	1	1	0	0	0	0	0	7840	1057	37	0	1949	0	IRS1	2	227661672	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	7328087	227661672	15537701	296	137593											
IRS1	3667	broad.mit.edu	37	chr2	227662263	227662263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtggagccatggccacTggtgctactggacgacagac	15	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:227662263T>C	uc002voh.3	-	1	1244	c.1192A>G	c.(1192-1194)AGT>GGT	p.S398G		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	398	Ser-rich.				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		CCATGGCCACTGGTGCTACTG	0.642											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	227662263	T	C	227662263	3	2	273	1	0	0	0	0	1	0	0	0	7840	1580	55	3	2540	3	IRS1	2	227662263	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	591	227662263	15537110	297	137594											
C2orf83	56918	broad.mit.edu	37	chr2	228476166	228476166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgaatcttgtggcttctTgttctctgtggacttttcat	8	10	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:228476166T>C	uc002vph.2	-	3	632	c.397A>G	c.(397-399)AAG>GAG	p.K133E	C2orf83_uc010zlu.1_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	hypothetical protein LOC56918 isoform 1	133						membrane	folic acid binding|reduced folate carrier activity				0						TGTGGCTTCTTGTTCTCTGTG	0.507													C	228476166	T	C	228476166	3	2	273	1	0	0	0	0	1	0	0	0	2198	1821	63	3	59	3	C2orf83	2	228476166	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	813903	228476166	14723207	298	137595											
SP110	3431	broad.mit.edu	37	chr2	231081613	231081613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtgctgaaaaagagcCtcttccatggctcttgtcat	9	9	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:231081613C>A	uc002vqh.3	-	2	270	c.30G>T	c.(28-30)GAG>GAT	p.E10D	SP110_uc002vqg.3_Missense_Mutation_p.E10D|SP110_uc002vqi.3_Missense_Mutation_p.E10D|SP110_uc010fxk.2_Missense_Mutation_p.E10D	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	10	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		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)		GAAAAAGAGCCTCTTCCATGG	0.373													A	231081613	C	A	231081613	3	1	273	1	0	0	0	0	1	0	0	0	14961	680	24	5	2247	5	SP110	2	231081613	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2605447	231081613	12117760	299	137596											
DIS3L2	129563	broad.mit.edu	37	chr2	233194563	233194563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttggccaacatggcagtgGcccacaagatccaccgcgcc	10	16	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:233194563G>T	uc010fxz.2	+	15	2056	c.1780G>T	c.(1780-1782)GCC>TCC	p.A594S	DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	594							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		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)		CATGGCAGTGGCCCACAAGAT	0.657													T	233194563	G	T	233194563	3	4	273	1	0	0	0	0	1	0	0	0	4537	1203	42	5	1834	5	DIS3L2	2	233194563	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2112950	233194563	10004810	300	137597											
ECEL1	9427	broad.mit.edu	37	chr2	233347838	233347838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atactccttgtccacagcatCgggtttcagcaggaagtccg	10	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:233347838C>T	uc002vsv.2	-	9	1763	c.1558G>A	c.(1558-1560)GAT>AAT	p.D520N	ECEL1_uc010fya.1_Missense_Mutation_p.D520N|ECEL1_uc010fyb.1_Missense_Mutation_p.D227N	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	520	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		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)		TCCACAGCATCGGGTTTCAGC	0.647													T	233347838	C	T	233347838	3	4	273	1	0	0	0	0	1	0	0	0	4891	884	31	1	809	1	ECEL1	2	233347838	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	153275	233347838	9851535	301	137598											
SAG	6295	broad.mit.edu	37	chr2	234240330	234240330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcgagtgattattacGtcaagcccgtggctatggag	11	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:234240330G>A	uc002vuh.2	+	10	1166	c.778G>A	c.(778-780)GTC>ATC	p.V260I	SAG_uc010zmq.1_Missense_Mutation_p.V126I	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	260					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		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)		TGATTATTACGTCAAGCCCGT	0.557													A	234240330	G	A	234240330	3	1	273	1	0	0	0	0	1	0	0	0	13808	1145	40	1	812	1	SAG	2	234240330	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	892492	234240330	8959043	302	137599											
UGT1A4	54657	broad.mit.edu	37	chr2	234627686	234627686	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatcaaagaagagaaaTttttcaccctgacagcctat	6	10	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:234627686T>A	uc002vux.2	+	1	249	c.220T>A	c.(220-222)TTT>ATT	p.F74I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.F74I	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	74					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		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;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	AGAAGAGAAATTTTTCACCCT	0.532													A	234627686	T	A	234627686	3	1	273	1	0	0	0	0	1	0	0	0	16944	1493	52	5	222	5	UGT1A4	2	234627686	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	387356	234627686	8571687	303	137600											
AGAP1	116987	broad.mit.edu	37	chr2	236649677	236649678	+	Frame_Shift_Ins	INS	-	-	C													tgatcagagatgaagggggcINScccccggaggcgcaggtgag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:236649676_236649677G>GC	uc002vvs.3	+	3	978_979	c.380_381G>GC	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Ins_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Ins_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(2)		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						GATGAAGGGGGCCCCCCGGAGG	0.49													C	236649678	-	C	236649677	7	5	273	1	0	1	1	0	0	0	0	0	366	726	26	0	395	0	AGAP1	2	236649677	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2021991	236649677	6549696	304	137601											
AGAP1	116987	broad.mit.edu	37	chr2	236839450	236839450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcagatggcaagcggcAtcagcctggtctccttcaac	11	13	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:236839450A>G	uc002vvs.2	+	12	1961	c.1366A>G	c.(1366-1368)ATC>GTC	p.I456V	AGAP1_uc002vvt.2_Intron	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	456	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GGCAAGCGGCATCAGCCTGGT	0.572													G	236839450	A	G	236839450	3	3	273	1	0	0	0	0	1	0	0	0	366	217	8	3	1412	3	AGAP1	2	236839450	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	189773	236839450	6359923	305	137602											
HDAC4	9759	broad.mit.edu	37	chr2	240061463	240061463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgggtgagctgggtcCggagcctggggcgctgctgc	20	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:240061463C>T	uc002vyk.3	-	9	1687	c.895G>A	c.(895-897)GGA>AGA	p.G299R	HDAC4_uc010fyz.1_Missense_Mutation_p.G294R|HDAC4_uc010zoa.1_Missense_Mutation_p.G294R|HDAC4_uc010fza.2_Missense_Mutation_p.G299R|HDAC4_uc010fyy.2_Missense_Mutation_p.G251R|HDAC4_uc010znz.1_Missense_Mutation_p.G182R|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	299	Interaction with MEF2A.				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			breast(3)|skin(2)|ovary(1)	6		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)		GAGCTGGGTCCGGAGCCTGGG	0.677													T	240061463	C	T	240061463	3	4	273	1	0	0	0	0	1	0	0	0	7009	661	23	1	2435	1	HDAC4	2	240061463	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3222013	240061463	3137910	306	137603											
KIF1A	547	broad.mit.edu	37	chr2	241676582	241676582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctggagtgtttcggatgCggcctgcagaaaaggcaacg	14	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:241676582C>T	uc002vzy.2	-	36	3748	c.3602G>A	c.(3601-3603)CGC>CAC	p.R1201H	KIF1A_uc010fzk.2_Missense_Mutation_p.R1302H|KIF1A_uc002vzz.1_Missense_Mutation_p.R1302H	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1201					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		GTTTCGGATGCGGCCTGCAGA	0.617													T	241676582	C	T	241676582	3	4	273	1	0	0	0	0	1	0	0	0	8283	768	27	1	1518	1	KIF1A	2	241676582	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1615119	241676582	1522791	307	137604											
PASK	23178	broad.mit.edu	37	chr2	242054701	242054701	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaagaggaaaccatcAccttgatgatattggcgtgc	10	9	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242054701A>G	uc002wao.1	-	13	3290	c.3198_splice	c.e13+1	p.K1066_splice	PASK_uc010zol.1_Splice_Site_p.K880_splice|PASK_uc010zom.1_Splice_Site_p.K1031_splice|PASK_uc010fzl.1_Splice_Site_p.K1066_splice|PASK_uc010zon.1_Splice_Site_p.K847_splice|PASK_uc002wap.2_Splice_Site_p.K609_splice|PASK_uc002waq.2_Splice_Site_p.K1066_splice	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase						regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		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)		GGAAACCATCACCTTGATGAT	0.423													G	242054701	A	G	242054701	5	3	273	1	0	0	0	0	0	0	1	0	11472	173	6	3	795	3	PASK	2	242054701	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	378119	242054701	1144672	308	137605											
HDLBP	3069	broad.mit.edu	37	chr2	242179467	242179467	+	Frame_Shift_Del	DEL	C	C	-													gcaccttgcgaattttgccgCcccccttgccgatgaggaat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242179466_242179466GC>G	uc002waz.3	-	17	2414	c.2241_2241GC>C	c.(2239-2241)ggcfs	p.G747fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.G747fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.G714fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein 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)		GAATTTTGCCGCCCCCCTTGC	0.547													-	242179467	C	-	242179467	7	5	273	1	0	1	0	1	0	0	0	0	7025	739	26	0	1610	0	HDLBP	2	242179467	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	124766	242179467	1019906	309	137606											
THAP4	51078	broad.mit.edu	37	chr2	242572918	242572918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggggcgtaaagtcatcCatagaaatgccactcttatc	9	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242572918C>T	uc002wbt.2	-	2	877	c.654G>A	c.(652-654)ATG>ATA	p.M218I		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	218							DNA binding|metal ion binding				0		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)		TAAAGTCATCCATAGAAATGC	0.537													T	242572918	C	T	242572918	3	4	273	1	0	0	0	0	1	0	0	0	15843	594	21	4	1107	4	THAP4	2	242572918	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	393451	242572918	626455	310	137607											
THAP4	51078	broad.mit.edu	37	chr2	242572945	242572945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccactcttatctgtcacGcccccttcgatggaggaagt	9	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242572945G>A	uc002wbt.2	-	2	850	c.627C>T	c.(625-627)GGC>GGT	p.G209G		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	209							DNA binding|metal ion binding				0		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)		TATCTGTCACGCCCCCTTCGA	0.542													A	242572945	G	A	242572945	2	1	273	1	0	0	0	0	0	0	0	1	15843	1074	38	1		1	THAP4	2	242572945	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	27	242572945	626428	311	137608											
D2HGDH	728294	broad.mit.edu	37	chr2	242680464	242680464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctgtagcaaggtgctGctgaggccacggacgtcgga	16	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242680464G>A	uc002wce.1	+	3	482	c.309G>A	c.(307-309)CTG>CTA	p.L103L	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_5'UTR|D2HGDH_uc002wcg.1_RNA	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	103	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				0		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)		GCAAGGTGCTGCTGAGGCCAC	0.612													A	242680464	G	A	242680464	2	1	273	1	0	0	0	0	0	0	0	1	4213	1306	46	2		2	D2HGDH	2	242680464	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	107519	242680464	518909	312	137609											
C2orf85	285093	broad.mit.edu	37	chr2	242814647	242814647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccatctccctcaacaatGgcctcgtccctgtggggaaa	9	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242814647G>T	uc010fzu.1	+	2	963	c.940G>T	c.(940-942)GGC>TGC	p.G314C		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	314						integral to membrane				ovary(1)	1						CCTCAACAATGGCCTCGTCCC	0.667													T	242814647	G	T	242814647	3	4	273	1	0	0	0	0	1	0	0	0	2200	1348	47	5	946	5	C2orf85	2	242814647	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	134183	242814647	384726	313	137610											
ITPR1	3708	broad.mit.edu	37	chr3	4709146	4709146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactatcactgccctgctccAcaataatcggaaactcctgg	6	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:4709146A>G	uc003bqa.2	+	18	2147	c.1799A>G	c.(1798-1800)CAC>CGC	p.H600R	ITPR1_uc010hca.1_Missense_Mutation_p.H585R|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.H585R	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	600	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCCTGCTCCACAATAATCGG	0.488													G	4709146	A	G	4709146	3	3	273	1	0	0	0	0	1	0	0	0	7920	159	6	3	1861	3	ITPR1	3	4709146	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08		4709146	193313284	314	137611											
CAMK1	8536	broad.mit.edu	37	chr3	9799262	9799262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggacagttctgtgccCggctccacgcagcagtctcg	15	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:9799262C>T	uc003bst.2	-	12	1252	c.1074G>A	c.(1072-1074)CCG>CCA	p.P358P	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_Missense_Mutation_p.R168Q	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	358					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTTCTGTGCCCGGCTCCACGC	0.687													T	9799262	C	T	9799262	2	4	273	1	0	0	0	0	0	0	0	1	2596	639	23	1		1	CAMK1	3	9799262	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5090116	9799262	188223168	315	137612											
TTLL3	26140	broad.mit.edu	37	chr3	9859428	9859429	+	Frame_Shift_Ins	INS	-	-	A													cctgggggctgaggatgacaINSaaaaagccttcataggtaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:9859427_9859428C>CA	uc003btg.3	+	4	890_891	c.414_415C>CA	c.(412-417)gacaaafs	p.D138fs	TTLL3_uc003btd.4_Frame_Shift_Ins_p.D232fs|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_5'UTR|TTLL3_uc010hco.1_Frame_Shift_Ins_p.D74fs|TTLL3_uc003bth.4_5'UTR|TTLL3_uc011atj.2_Frame_Shift_Ins_p.D74fs|TTLL3_uc003btj.4_5'UTR|TTLL3_uc003bti.4_5'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	138					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)					CTGAGGATGACAAAAAAGCCTT	0.54													A	9859429	-	A	9859428	7	5	273	1	0	1	1	0	0	0	0	0	16725	131	5	0	429	0	TTLL3	3	9859428	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	60166	9859428	188163002	316	137613											
ATP2B2	491	broad.mit.edu	37	chr3	10426972	10426972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgactaggctggcattcGcactatctgcagcatttgaa	9	10	1	2	rs149708084		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:10426972G>A	uc003bvt.2	-	8	1419	c.980C>T	c.(979-981)GCG>GTG	p.A327V	ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	327	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCTGGCATTCGCACTATCTGC	0.557													A	10426972	G	A	10426972	3	1	273	1	0	0	0	0	1	0	0	0	1140	1087	38	1	2815	1	ATP2B2	3	10426972	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	567544	10426972	187595458	317	137614											
IQSEC1	9922	broad.mit.edu	37	chr3	12977083	12977083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcccgcaggctgtcaCgggacgatgactcggagctg	14	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:12977083C>T	uc003bxt.2	-	3	1484	c.1475G>A	c.(1474-1476)CGT>CAT	p.R492H	IQSEC1_uc003bxu.3_Missense_Mutation_p.R370H|IQSEC1_uc011auw.1_Missense_Mutation_p.R478H	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	492					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CAGGCTGTCACGGGACGATGA	0.572													T	12977083	C	T	12977083	3	4	273	1	0	0	0	0	1	0	0	0	7817	536	19	1	2009	1	IQSEC1	3	12977083	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2550111	12977083	185045347	318	137615											
NUP210	23225	broad.mit.edu	37	chr3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-													ggcctggatcttcagctccaGgggggagtcctccaggtaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:13438889_13438889AG>A	uc003bxv.1	-	2	487	c.404_404CT>T	c.(403-405)ctgfs	p.L135fs		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	135					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P134L(1)		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)					CTTCAGCTCCAGGGGGGAGTC	0.607													-	13438890	G	-	13438890	7	5	273	1	0	1	0	1	0	0	0	0	10760	991	35	0	5412	0	NUP210	3	13438890	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	461807	13438890	184583540	319	137616											
EAF1	85403	broad.mit.edu	37	chr3	15477988	15477988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcccagcctctcctccGcagccttcacaccagcagcc	7	20	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:15477988G>A	uc003bzu.2	+	5	889	c.666G>A	c.(664-666)CCG>CCA	p.P222P	EAF1_uc011avq.1_Silent_p.P121P	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	222	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						CCTCTCCTCCGCAGCCTTCAC	0.587													A	15477988	G	A	15477988	2	1	273	1	0	0	0	0	0	0	0	1	4875	1074	38	1		1	EAF1	3	15477988	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2039098	15477988	182544442	320	137617											
KCNH8	131096	broad.mit.edu	37	chr3	19436626	19436626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcttctaaagacagtgCgcctcttgcgtcttttgcgt	9	11	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19436626C>T	uc003cbk.1	+	7	1195	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	KCNH8_uc011awe.1_Missense_Mutation_p.R334C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	334	Helical; Voltage-sensor; Name=Segment S4; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AAAGACAGTGCGCCTCTTGCG	0.478													T	19436626	C	T	19436626	3	4	273	1	0	0	0	0	1	0	0	0	8038	768	27	1	1026	1	KCNH8	3	19436626	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3958638	19436626	178585804	321	137618											
KCNH8	131096	broad.mit.edu	37	chr3	19479763	19479763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgctctgtacttcacgCtgagcagcctcaccagcgtg	10	15	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19479763C>A	uc003cbk.1	+	8	1480	c.1285C>A	c.(1285-1287)CTG>ATG	p.L429M	KCNH8_uc011awe.1_Missense_Mutation_p.L429M|KCNH8_uc010hex.1_Translation_Start_Site|KCNH8_uc011awf.1_Missense_Mutation_p.L60M	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	429						integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GTACTTCACGCTGAGCAGCCT	0.507													A	19479763	C	A	19479763	3	1	273	1	0	0	0	0	1	0	0	0	8038	796	28	5	1315	5	KCNH8	3	19479763	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	43137	19479763	178542667	322	137619											
KCNH8	131096	broad.mit.edu	37	chr3	19498410	19498410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttacccagaatatgctcAcaaattcgtggaagacattc	6	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19498410A>G	uc003cbk.1	+	11	2171	c.1976A>G	c.(1975-1977)CAC>CGC	p.H659R	KCNH8_uc010hex.1_Missense_Mutation_p.H120R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	659	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GAATATGCTCACAAATTCGTG	0.413													G	19498410	A	G	19498410	3	3	273	1	0	0	0	0	1	0	0	0	8038	159	6	3	2018	3	KCNH8	3	19498410	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	18647	19498410	178524020	323	137620											
KCNH8	131096	broad.mit.edu	37	chr3	19554728	19554728	+	Frame_Shift_Del	DEL	C	C	-													aaaaccaagcaggaaattgaCccccccaaccataataaaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19554727_19554727AC>A	uc003cbk.1	+	12	2540	c.2345_2345AC>A	c.(2344-2346)gacfs	p.D782fs	KCNH8_uc010hex.1_Frame_Shift_Del_p.D243fs	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	782						integral to membrane	two-component sensor activity	p.N785fs*3(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						CAGGAAATTGACCCCCCCAAC	0.473													-	19554728	C	-	19554728	7	5	273	1	0	1	0	1	0	0	0	0	8038	506	18	0	2396	0	KCNH8	3	19554728	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	56318	19554728	178467702	324	137621											
KAT2B	8850	broad.mit.edu	37	chr3	20167584	20167584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatgccaaaagaatacaTcacacggctcgtctttgacc	7	13	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:20167584T>G	uc003cbq.2	+	10	2047	c.1601T>G	c.(1600-1602)ATC>AGC	p.I534S		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	534	N-acetyltransferase.				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAAGAATACATCACACGGCTC	0.448													G	20167584	T	G	20167584	3	3	273	1	0	0	0	0	1	0	0	0	7982	1435	50	5	1639	5	KAT2B	3	20167584	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	612856	20167584	177854846	325	137622											
OSBPL10	114884	broad.mit.edu	37	chr3	31705669	31705669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgccgcttctgctcggTggctgcgtcaatgtccccca	12	15	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:31705669T>C	uc003cev.2	-	12	2533	c.2152A>G	c.(2152-2154)ACC>GCC	p.T718A	OSBPL10_uc003ceu.1_Missense_Mutation_p.T475A|OSBPL10_uc011axf.1_Missense_Mutation_p.T654A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	718					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TTCTGCTCGGTGGCTGCGTCA	0.612													C	31705669	T	C	31705669	3	2	273	1	0	0	0	0	1	0	0	0	11275	1696	59	3	150	3	OSBPL10	3	31705669	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	11538085	31705669	166316761	326	137623											
GLB1	2720	broad.mit.edu	37	chr3	33038574	33038574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatctttgtttttttgcGggggtgggggcatgagtctt	15	4	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:33038574G>A	uc003cfi.1	-	16	2114	c.1997C>T	c.(1996-1998)CCG>CTG	p.P666L	GLB1_uc003cfh.1_Missense_Mutation_p.P636L|GLB1_uc003cfj.1_Missense_Mutation_p.P535L|GLB1_uc011axk.1_Missense_Mutation_p.P714L	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	666					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				GTTTTTTTGCGGGGGTGGGGG	0.483													A	33038574	G	A	33038574	3	1	273	1	0	0	0	0	1	0	0	0	6427	1116	39	1	40	1	GLB1	3	33038574	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1332905	33038574	164983856	327	137624											
ARPP21	10777	broad.mit.edu	37	chr3	35748505	35748505	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatttaaaagatgaaaaAggtgaagaatcccagaagcg	10	5	0	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:35748505A>G	uc003cgb.2	+	10	990	c.726A>G	c.(724-726)AAA>AAG	p.K242K	ARPP21_uc003cga.2_Silent_p.K242K|ARPP21_uc011axy.1_Silent_p.K242K|ARPP21_uc003cgf.2_Silent_p.K78K	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	242						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						AAGATGAAAAAGGTGAAGAAT	0.348													G	35748505	A	G	35748505	2	3	273	1	0	0	0	0	0	0	0	1	978	69	3	3		3	ARPP21	3	35748505	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2709931	35748505	162273925	328	137625											
SCN5A	6331	broad.mit.edu	37	chr3	38640527	38640527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctggggcccgcctggctcCtccgatggcgtggtctgagt	15	13	2	1	rs67518036		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:38640527C>A	uc003cio.2	-	13	2099	c.1905G>T	c.(1903-1905)GAG>GAT	p.E635D	SCN5A_uc003cin.2_Missense_Mutation_p.E635D|SCN5A_uc003cil.3_Missense_Mutation_p.E635D|SCN5A_uc010hhi.2_Missense_Mutation_p.E635D|SCN5A_uc010hhk.2_Missense_Mutation_p.E635D|SCN5A_uc011ayr.1_Missense_Mutation_p.E635D|SCN5A_uc010hhj.1_Missense_Mutation_p.E246D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	CGCCTGGCTCCTCCGATGGCG	0.672													A	38640527	C	A	38640527	3	1	273	1	0	0	0	0	1	0	0	0	13922	680	24	5	4209	5	SCN5A	3	38640527	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2892022	38640527	159381903	329	137626											
TTC21A	199223	broad.mit.edu	37	chr3	39175776	39175776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtgagcagcactgtgCcatcctcctgcagactgagc	11	14	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:39175776C>T	uc003cjc.2	+	21	3017	c.2840C>T	c.(2839-2841)GCC>GTC	p.A947V	TTC21A_uc003cje.2_Missense_Mutation_p.A948V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.A899V|TTC21A_uc011ayy.1_Missense_Mutation_p.A68V|TTC21A_uc003cjf.2_Missense_Mutation_p.A68V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	947	TPR 14.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGCACTGTGCCATCCTCCTG	0.602													T	39175776	C	T	39175776	3	4	273	1	0	0	0	0	1	0	0	0	16684	739	26	2	2925	2	TTC21A	3	39175776	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	535249	39175776	158846654	330	137627											
ZNF662	389114	broad.mit.edu	37	chr3	42956634	42956634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagagggtccacactgggGacaagcctcatgaatgtact	11	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:42956634G>A	uc003cmi.2	+	5	1421	c.1069G>A	c.(1069-1071)GAC>AAC	p.D357N	ZNF662_uc003cmk.2_Missense_Mutation_p.D383N|ZNF662_uc003cmj.2_Missense_Mutation_p.D249N	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCACACTGGGGACAAGCCTCA	0.473													A	42956634	G	A	42956634	3	1	273	1	0	0	0	0	1	0	0	0	18068	1174	41	4	1270	4	ZNF662	3	42956634	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3780858	42956634	155065796	331	137628											
LARS2	23395	broad.mit.edu	37	chr3	45561788	45561788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcagcaatgccctctcGgtaagtggcctgtcctcatt	10	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:45561788G>A	uc003cop.1	+	19	2477	c.2292G>A	c.(2290-2292)TCG>TCA	p.S764S	LARS2_uc010hit.1_Silent_p.S721S	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	764					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATGCCCTCTCGGTAAGTGGCC	0.532													A	45561788	G	A	45561788	2	1	273	1	0	0	0	0	0	0	0	1	8635	1130	39	1		1	LARS2	3	45561788	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2605154	45561788	152460642	332	137629											
PTH1R	5745	broad.mit.edu	37	chr3	46940909	46940909	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcatggccttcttctcagaGaagaagtacctgtggggctt	11	9	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:46940909G>T	uc003cqm.2	+	10	1154	c.951G>T	c.(949-951)GAG>GAT	p.E317D	PTH1R_uc003cqn.2_Missense_Mutation_p.E317D	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	317	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						TCTTCTCAGAGAAGAAGTACC	0.597									Ollier_disease_/_Maffuci_syndrome				T	46940909	G	T	46940909	3	4	273	1	0	0	0	0	1	0	0	0	12758	933	33	5	981	5	PTH1R	3	46940909	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1379121	46940909	151081521	333	137630											
SCAP	22937	broad.mit.edu	37	chr3	47462067	47462067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaggcgctgtgccaggcGggtgcgggccaggaagtaga	20	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:47462067G>A	uc003crh.1	-	12	1795	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C	SCAP_uc011baz.1_Missense_Mutation_p.R259C|SCAP_uc003crg.2_Missense_Mutation_p.R122C	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	514	Cytoplasmic (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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGTGCCAGGCGGGTGCGGGCC	0.667											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	47462067	G	A	47462067	3	1	273	1	0	0	0	0	1	0	0	0	13877	1116	39	1	2347	1	SCAP	3	47462067	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	521158	47462067	150560363	334	137631											
PLXNB1	5364	broad.mit.edu	37	chr3	48464342	48464342	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgagccacagggataAgcatccagggtgtcctatag	13	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48464342A>C	uc003csw.2	-	4	1392	c.1122T>G	c.(1120-1122)GCT>GCG	p.A374A	PLXNB1_uc003csu.2_Silent_p.A374A|PLXNB1_uc003csx.2_Silent_p.A374A|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	374	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGGGATAAGCATCCAGGG	0.617													C	48464342	A	C	48464342	2	2	273	1	0	0	0	0	0	0	0	1	12123	59	3	5		5	PLXNB1	3	48464342	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1002275	48464342	149558088	335	137632											
ATRIP	84126	broad.mit.edu	37	chr3	48501769	48501769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgcaggacttggcagCtgctaagagaagcggagcac	15	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48501769C>T	uc003ctf.1	+	8	1348	c.1316C>T	c.(1315-1317)GCT>GTT	p.A439V	ATRIP_uc011bbj.1_Missense_Mutation_p.A312V|ATRIP_uc003ctg.1_Missense_Mutation_p.A439V|TREX1_uc010hjy.2_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	439					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACTTGGCAGCTGCTAAGAGA	0.592								Other_conserved_DNA_damage_response_genes					T	48501769	C	T	48501769	3	4	273	1	0	0	0	0	1	0	0	0	1205	797	28	2	1346	2	ATRIP	3	48501769	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	37427	48501769	149520661	336	137633											
CELSR3	1951	broad.mit.edu	37	chr3	48691331	48691331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagctgacagtctttgccgCcgaagcccacagggcagtcg	12	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48691331C>T	uc003cul.2	-	8	5539	c.5258G>A	c.(5257-5259)GGC>GAC	p.G1753D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1823D|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1753	Extracellular (Potential).|EGF-like 4; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTTTGCCGCCGAAGCCCAC	0.597													T	48691331	C	T	48691331	3	4	273	1	0	0	0	0	1	0	0	0	3223	739	26	2	4792	2	CELSR3	3	48691331	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	189562	48691331	149331099	337	137634											
CELSR3	1951	broad.mit.edu	37	chr3	48699377	48699377	+	Frame_Shift_Del	DEL	G	G	-													ccctggaagacagttccgccGgggggctgtcctttctgctc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48699377delG	uc003cul.2	-	1	972	c.691delC	c.(691-693)CGGfs	p.R231fs	CELSR3_uc003cuf.1_Frame_Shift_Del_p.R301fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	231	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTTCCGCCGGGGGGCTGTC	0.657													-	48699377	G	-	48699377	7	5	273	1	0	1	0	1	0	0	0	0	3223	1115	39	0	9387	0	CELSR3	3	48699377	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	8046	48699377	149323053	338	137635											
ARIH2	10425	broad.mit.edu	37	chr3	49012281	49012281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatctgcattgagaagaAtggaggctgcaatcacatgg	11	8	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49012281A>G	uc003cvb.2	+	10	1232	c.920A>G	c.(919-921)AAT>AGT	p.N307S	ARIH2_uc003cvc.2_Missense_Mutation_p.N307S|ARIH2_uc003cvf.2_Missense_Mutation_p.N225S|ARIH2_uc010hkl.2_Missense_Mutation_p.N307S	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	307	RING-type 2.				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ATTGAGAAGAATGGAGGCTGC	0.473													G	49012281	A	G	49012281	3	3	273	1	0	0	0	0	1	0	0	0	924	101	4	3	950	3	ARIH2	3	49012281	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	312904	49012281	149010149	339	137636											
LAMB2	3913	broad.mit.edu	37	chr3	49159460	49159460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataccctgtgcccgctgggCctcctccagtgctgcctgta	10	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49159460C>T	uc003cwe.2	-	29	5139	c.4840G>A	c.(4840-4842)GCC>ACC	p.A1614T	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1614	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCGCTGGGCCTCCTCCAGT	0.602													T	49159460	C	T	49159460	3	4	273	1	0	0	0	0	1	0	0	0	8611	739	26	2	572	2	LAMB2	3	49159460	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	147179	49159460	148862970	340	137637											
DAG1	1605	broad.mit.edu	37	chr3	49568926	49568926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgccattgggcccccaAccacggctatccaggagccc	9	18	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49568926A>G	uc003cxc.3	+	3	1400	c.982A>G	c.(982-984)ACC>GCC	p.T328A		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	328	Thr-rich.|Required for laminin recognition.|Mucin-like domain.				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			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGGGCCCCCAACCACGGCTAT	0.612													G	49568926	A	G	49568926	3	3	273	1	0	0	0	0	1	0	0	0	4225	43	2	3	988	3	DAG1	3	49568926	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	409466	49568926	148453504	341	137638											
BSN	8927	broad.mit.edu	37	chr3	49692496	49692496	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagccaggcccagtgccagAgccaggtgccgagccccacc	12	18	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49692496A>T	uc003cxe.3	+	5	5621	c.5507A>T	c.(5506-5508)GAG>GTG	p.E1836V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1836					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGTGCCAGAGCCAGGTGCC	0.627													T	49692496	A	T	49692496	3	4	273	1	0	0	0	0	1	0	0	0	1530	304	11	5	5525	5	BSN	3	49692496	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	123570	49692496	148329934	342	137639											
BSN	8927	broad.mit.edu	37	chr3	49698680	49698680	+	Frame_Shift_Del	DEL	C	C	-													cagagcaccctttttccagtCcccgctgatagccgtgcccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49698679_49698679TC>T	uc003cxe.4	+	5	9515	c.9401_9401TC>T	c.(9400-9402)gtcfs	p.V3134fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3134					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)		CTTTTTCCAGTCCCCGCTGAT	0.622													-	49698680	C	-	49698680	7	5	273	1	0	1	0	1	0	0	0	0	1530	842	30	0	9424	0	BSN	3	49698680	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	6184	49698680	148323750	343	137640											
CAMKV	79012	broad.mit.edu	37	chr3	49896836	49896836	+	Frame_Shift_Del	DEL	C	C	-													gtggagcctggcctgtggcgCcctctggggctgtgctgtcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49896836delC	uc003cxt.1	-	11	1614	c.1421delG	c.(1420-1422)GGCfs	p.G474fs	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.1_5'Flank|CAMKV_uc011bcy.1_Frame_Shift_Del_p.G399fs|CAMKV_uc003cxv.1_Frame_Shift_Del_p.G446fs|CAMKV_uc003cxw.1_Frame_Shift_Del_p.G306fs|CAMKV_uc003cxx.1_Frame_Shift_Del_p.G306fs|CAMKV_uc003cxu.2_Frame_Shift_Del_p.G443fs|CAMKV_uc011bcz.1_Frame_Shift_Del_p.G406fs|CAMKV_uc011bda.1_Frame_Shift_Del_p.G400fs	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	474	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGTGGCGCCCTCTGGGGC	0.652													-	49896836	C	-	49896836	7	5	273	1	0	1	0	1	0	0	0	0	2608	739	26	0	88	0	CAMKV	3	49896836	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	198156	49896836	148125594	344	137641											
MST1R	4486	broad.mit.edu	37	chr3	49936360	49936360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacatcccgctgcacgggCtgcccactgtcacccagtga	10	17	1	2	rs55898810	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49936360C>T	uc003cxy.3	-	3	1752	c.1488G>A	c.(1486-1488)CAG>CAA	p.Q496Q	MST1R_uc011bdd.1_Silent_p.Q496Q|MST1R_uc011bde.1_Silent_p.Q496Q|MST1R_uc011bdf.1_Intron|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	496	Extracellular (Potential).|Sema.				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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCTGCACGGGCTGCCCACTGT	0.597													T	49936360	C	T	49936360	2	4	273	1	0	0	0	0	0	0	0	1	9891	796	28	2		2	MST1R	3	49936360	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	39524	49936360	148086070	345	137642											
SEMA3B	7869	broad.mit.edu	37	chr3	50311902	50311902	+	Frame_Shift_Del	DEL	G	G	-													acaactctgtcctgcccactGgggggcgccctcttttccta							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50311901_50311901TG>T	uc003cyu.3	+	12	1484	c.1242_1242TG>T	c.(1240-1242)actfs	p.T414fs	SEMA3B_uc003cyt.3_Frame_Shift_Del_p.T413fs|SEMA3B_uc003cyv.3_Frame_Shift_Del_p.T302fs|SEMA3B_uc003cyw.3_Frame_Shift_Del_p.T138fs|SEMA3B_uc010hli.3_Frame_Shift_Del_p.T307fs|SEMA3B_uc003cyx.3_Frame_Shift_Del_p.T301fs|SEMA3B_uc003cyy.3_Frame_Shift_Del_p.T72fs|SEMA3B_uc011bdo.2_Frame_Shift_Del_p.T72fs	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	415	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCC	0.567											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	50311902	G	-	50311902	7	5	273	1	0	1	0	1	0	0	0	0	14025	1348	47	0	1287	0	SEMA3B	3	50311902	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	375542	50311902	147710528	346	137643											
IFRD2	7866	broad.mit.edu	37	chr3	50325851	50325851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcaaaccttctcaaagcGtggaaccttgcaggccttca	10	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50325851G>A	uc011bdp.1	-	11	1558	c.1429C>T	c.(1429-1431)CGC>TGC	p.R477C	IFRD2_uc003czb.2_Missense_Mutation_p.R579C	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	477							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTCAAAGCGTGGAACCTTG	0.592													A	50325851	G	A	50325851	3	1	273	1	0	0	0	0	1	0	0	0	7554	1145	40	1	99	1	IFRD2	3	50325851	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	13949	50325851	147696579	347	137644											
IFRD2	7866	broad.mit.edu	37	chr3	50329820	50329820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccagacgacgggagccaCacgccacgcgcgccaccatc	12	18	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50329820C>T	uc011bdp.1	-	1	207	c.78G>A	c.(76-78)GTG>GTA	p.V26V	IFRD2_uc003czb.2_Silent_p.V128V	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	26							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGGGAGCCACACGCCACGCG	0.652													T	50329820	C	T	50329820	2	4	273	1	0	0	0	0	0	0	0	1	7554	465	17	4		4	IFRD2	3	50329820	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3969	50329820	147692610	348	137645											
CACNA2D2	9254	broad.mit.edu	37	chr3	50418199	50418199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctccttcggacatcGtacaggtcgatcttcttggg	12	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50418199G>A	uc003daq.2	-	8	860	c.822C>T	c.(820-822)TAC>TAT	p.Y274Y	CACNA2D2_uc003dap.2_Silent_p.Y274Y	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	274	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTCGGACATCGTACAGGTCGA	0.642													A	50418199	G	A	50418199	2	1	273	1	0	0	0	0	0	0	0	1	2549	1140	40	1		1	CACNA2D2	3	50418199	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	88379	50418199	147604231	349	137646											
DNAH1	25981	broad.mit.edu	37	chr3	52402772	52402774	+	In_Frame_Del	DEL	CTC	CTC	-													tgcaggacagacgggatattCtcctcgttcatccgggcggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:52402772_52402774delCTC	uc011bef.1	+	37	6042_6044	c.5781_5783delCTC	c.(5779-5784)TTCTCC>TTC	p.S1929del		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1929	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			large_intestine(3)	3				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)		ACGGGATATTCTCCTCGTTCATC	0.616													-	52402774	CTC	-	52402772	7	5	273	1	0	1	0	1	0	0	0	0	4597	912	32	0	5923	0	DNAH1	3	52402772	In_Frame_Del	DEL	CTC	TCGA-HU-A4GT-01A-21D-A25D-08	1984573	52402772	145619658	350	137647											
DNAH1	25981	broad.mit.edu	37	chr3	52425502	52425502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgaagctgggggacaCggtgatcccctaccatgagg	16	10	0	3	rs114919804	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:52425502C>T	uc011bef.1	+	63	10196	c.9935C>T	c.(9934-9936)ACG>ATG	p.T3312M	DNAH1_uc003ddv.2_Missense_Mutation_p.T170M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3377	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			large_intestine(3)	3				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)		CTGGGGGACACGGTGATCCCC	0.597													T	52425502	C	T	52425502	3	4	273	1	0	0	0	0	1	0	0	0	4597	536	19	1	10181	1	DNAH1	3	52425502	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	22730	52425502	145596928	351	137648											
NISCH	11188	broad.mit.edu	37	chr3	52526437	52526437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagagaagctcatctcgcTgttggctcgccagtgggagg	15	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:52526437T>C	uc011beg.1	+	22	4526	c.4454T>C	c.(4453-4455)CTG>CCG	p.L1485P	NISCH_uc003ded.3_Missense_Mutation_p.L1485P|NISCH_uc003dee.3_Missense_Mutation_p.L974P|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.L234P|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.2_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1485					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				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)		CTCATCTCGCTGTTGGCTCGC	0.672													C	52526437	T	C	52526437	3	2	273	1	0	0	0	0	1	0	0	0	10432	1580	55	3	4536	3	NISCH	3	52526437	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	100935	52526437	145495993	352	137649											
IL17RB	55540	broad.mit.edu	37	chr3	53898814	53898815	+	Frame_Shift_Ins	INS	-	-	C													ttctaccaccacactactgcINScccccattaaggttcttgtg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:53898813_53898814G>GC	uc003dha.3	+	10	1026_1027	c.987_988G>GC	c.(985-990)ctgcccfs	p.L329fs		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													C	53898815	-	C	53898814	7	5	273	1	0	1	1	0	0	0	0	0	7640	739	26	0	1030	0	IL17RB	3	53898814	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1372377	53898814	144123616	353	137650											
WNT5A	7474	broad.mit.edu	37	chr3	55504317	55504317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcgtgcccagcgagcCggtgctctcattgcgcacgc	13	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:55504317C>T	uc003dhn.2	-	5	1264	c.946G>A	c.(946-948)GGC>AGC	p.G316S	WNT5A_uc003dhm.2_Missense_Mutation_p.G301S|WNT5A_uc010hmw.2_Missense_Mutation_p.G301S|WNT5A_uc010hmx.2_Missense_Mutation_p.G227S	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	316					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				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCAGCGAGCCGGTGCTCTCA	0.622													T	55504317	C	T	55504317	3	4	273	1	0	0	0	0	1	0	0	0	17388	652	23	1	200	1	WNT5A	3	55504317	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1605503	55504317	142518113	354	137651											
C3orf63	23272	broad.mit.edu	37	chr3	56681220	56681220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgctctcatgcctctcCtgtggtgctgcattggttga	12	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:56681220C>T	uc003did.3	-	14	1646	c.1545G>A	c.(1543-1545)CAG>CAA	p.Q515Q	C3orf63_uc003dic.3_Silent_p.Q119Q|C3orf63_uc003die.3_Silent_p.Q515Q	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	515										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CATGCCTCTCCTGTGGTGCTG	0.338													T	56681220	C	T	56681220	2	4	273	1	0	0	0	0	0	0	0	1	2239	680	24	4		4	C3orf63	3	56681220	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1176903	56681220	141341210	355	137652											
FAM116A	201627	broad.mit.edu	37	chr3	57614576	57614578	+	In_Frame_Del	DEL	CTA	CTA	-													caagacaaggtctactgtttCtacttctgtgtgtttctgga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:57614576_57614578delCTA	uc003dja.2	-	19	1726_1728	c.1655_1657delTAG	c.(1654-1659)GTAGAA>GAA	p.V552del		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	552										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TCTACTGTTTCTACTTCTGTGTG	0.34													-	57614578	CTA	-	57614576	7	5	273	1	0	1	0	1	0	0	0	0	5407	922	32	0	177	0	FAM116A	3	57614576	In_Frame_Del	DEL	CTA	TCGA-HU-A4GT-01A-21D-A25D-08	933356	57614576	140407854	356	137653											
FLNB	2317	broad.mit.edu	37	chr3	58084494	58084494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccaggggaagaacaccGtggagttgctcgtggaagac	14	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:58084494G>A	uc003djj.2	+	8	1369	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	FLNB_uc010hne.2_Missense_Mutation_p.V402M|FLNB_uc003djk.2_Missense_Mutation_p.V402M|FLNB_uc010hnf.2_Missense_Mutation_p.V402M|FLNB_uc003djl.2_Missense_Mutation_p.V233M|FLNB_uc003djm.2_Missense_Mutation_p.V233M	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	402	Filamin 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAGAACACCGTGGAGTTGCT	0.537													A	58084494	G	A	58084494	3	1	273	1	0	0	0	0	1	0	0	0	5934	1145	40	1	1234	1	FLNB	3	58084494	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	469918	58084494	139937936	357	137654											
FLNB	2317	broad.mit.edu	37	chr3	58148890	58148890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattctcctagataagtatgCtgttcgcttcatccctcatg	6	12	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:58148890C>A	uc003djj.2	+	43	7196	c.7031C>A	c.(7030-7032)GCT>GAT	p.A2344D	FLNB_uc010hne.2_Missense_Mutation_p.A2375D|FLNB_uc003djk.2_Missense_Mutation_p.A2333D|FLNB_uc010hnf.2_Missense_Mutation_p.A2320D|FLNB_uc003djl.2_Missense_Mutation_p.A2164D|FLNB_uc003djm.2_Missense_Mutation_p.A2151D|uc003djn.2_RNA	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2344	Filamin 22.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GATAAGTATGCTGTTCGCTTC	0.507													A	58148890	C	A	58148890	3	1	273	1	0	0	0	0	1	0	0	0	5934	797	28	5	7298	5	FLNB	3	58148890	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	64396	58148890	139873540	358	137655											
PTPRG	5793	broad.mit.edu	37	chr3	62253484	62253484	+	Frame_Shift_Del	DEL	A	A	-													gatgattacgaaccttgtggAaaaaggaagagtaagagcct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:62253484delA	uc003dlb.2	+	19	3583	c.2864delA	c.(2863-2865)GAAfs	p.E955fs	PTPRG_uc003dlc.2_Frame_Shift_Del_p.E926fs|PTPRG_uc011bfi.1_Frame_Shift_Del_p.E201fs|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	955	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AACCTTGTGGAAAAAGGAAGA	0.393													-	62253484	A	-	62253484	7	5	273	1	0	1	0	1	0	0	0	0	12802	246	9	0	2938	0	PTPRG	3	62253484	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	4104594	62253484	135768946	359	137656											
PSMD6	9861	broad.mit.edu	37	chr3	64004573	64004573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgttttataatccatgAgttcataggatgtaaatgtt	7	4	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:64004573A>G	uc003dma.1	-	4	663	c.638T>C	c.(637-639)CTC>CCC	p.L213P	PSMD6_uc003dlz.1_Missense_Mutation_p.L164P|PSMD6_uc003dmb.1_Missense_Mutation_p.L266P|PSMD6_uc003dmc.1_Missense_Mutation_p.L174P|PSMD6_uc003dmd.1_Missense_Mutation_p.L175P	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit,	213	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	ATPase activity|protein binding			central_nervous_system(1)|skin(1)	2		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)		ATAATCCATGAGTTCATAGGA	0.363													G	64004573	A	G	64004573	3	3	273	1	0	0	0	0	1	0	0	0	12702	304	11	3	551	3	PSMD6	3	64004573	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1751089	64004573	134017857	360	137657											
PRICKLE2	166336	broad.mit.edu	37	chr3	64145667	64145667	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaggcctgacattcccGcggcccaagttttcgcgttt	12	12	0	1	rs148888682	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:64145667G>A	uc003dmf.2	-	4	931	c.345C>T	c.(343-345)CGC>CGT	p.R115R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	115	PET.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		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)		TGACATTCCCGCGGCCCAAGT	0.502													A	64145667	G	A	64145667	2	1	273	1	0	0	0	0	0	0	0	1	12487	1074	38	1		1	PRICKLE2	3	64145667	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	141094	64145667	133876763	361	137658											
MAGI1	9223	broad.mit.edu	37	chr3	65342547	65342547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgtccctccggcgcccGgtccttgggtcggcatgccc	12	20	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:65342547G>A	uc003dmn.2	-	23	4421	c.3895C>T	c.(3895-3897)CGG>TGG	p.R1299W	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1328					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		TCCGGCGCCCGGTCCTTGGGT	0.682													A	65342547	G	A	65342547	3	1	273	1	0	0	0	0	1	0	0	0	9190	1115	39	1	497	1	MAGI1	3	65342547	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1196880	65342547	132679883	362	137659											
LRIG1	26018	broad.mit.edu	37	chr3	66467592	66467592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtggaaagcaggtgttcCgcacttccgtgatgttgttc	13	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:66467592C>T	uc003dmx.2	-	4	478	c.464G>A	c.(463-465)CGG>CAG	p.R155Q	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.R155Q	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	155	Extracellular (Potential).|LRR 4.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCAGGTGTTCCGCACTTCCGT	0.547													T	66467592	C	T	66467592	3	4	273	1	0	0	0	0	1	0	0	0	8944	652	23	1	2881	1	LRIG1	3	66467592	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1125045	66467592	131554838	363	137660											
FOXP1	27086	broad.mit.edu	37	chr3	71015081	71015081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctggactgctgtcactctCgttgctgttggtatgctcca	11	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:71015081C>T	uc003dol.2	-	16	2172	c.1849G>A	c.(1849-1851)GAG>AAG	p.E617K	FOXP1_uc003dom.2_Missense_Mutation_p.E541K|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.E616K|FOXP1_uc003dop.2_Missense_Mutation_p.E617K|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.E517K|FOXP1_uc003doj.2_Missense_Mutation_p.E517K|FOXP1_uc003dok.2_Missense_Mutation_p.E430K	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	617					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTCACTCTCGTTGCTGTTG	0.532			T	PAX5	ALL								T	71015081	C	T	71015081	3	4	273	1	0	0	0	0	1	0	0	0	6026	893	31	1	192	1	FOXP1	3	71015081	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4547489	71015081	127007349	364	137661											
PDZRN3	23024	broad.mit.edu	37	chr3	73433940	73433940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggttggaggatgcggtggCgtcgtcgccattgttctctt	16	9	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:73433940C>T	uc003dpl.1	-	10	1873	c.1777G>A	c.(1777-1779)GCC>ACC	p.A593T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A250T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A291T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A310T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A313T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	593							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)		GATGCGGTGGCGTCGTCGCCA	0.627													T	73433940	C	T	73433940	3	4	273	1	0	0	0	0	1	0	0	0	11709	768	27	1	1427	1	PDZRN3	3	73433940	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2418859	73433940	124588490	365	137662											
CRYBG3	131544	broad.mit.edu	37	chr3	97614817	97614817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggtgggttgcctatgAaaaagaacattttaaaggcc	10	6	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:97614817A>G	uc003drx.2	+	9	1809	c.1745A>G	c.(1744-1746)GAA>GGA	p.E582G		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GTTGCCTATGAAAAAGAACAT	0.398													G	97614817	A	G	97614817	3	3	273	1	0	0	0	0	1	0	0	0	3913	246	9	3	1779	3	CRYBG3	3	97614817	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	24180877	97614817	100407613	366	137663											
TBC1D23	55773	broad.mit.edu	37	chr3	100029334	100029334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagacaaaatccgttaatGtcagggaaaaagttatcagt	9	5	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:100029334G>A	uc003dtt.2	+	14	1678	c.1501G>A	c.(1501-1503)GTC>ATC	p.V501I	TBC1D23_uc003dts.2_Missense_Mutation_p.V501I	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	501						intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						ATCCGTTAATGTCAGGGAAAA	0.328													A	100029334	G	A	100029334	3	1	273	1	0	0	0	0	1	0	0	0	15610	1377	48	4	1555	4	TBC1D23	3	100029334	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2414517	100029334	97993096	367	137664											
BBX	56987	broad.mit.edu	37	chr3	107491997	107491997	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagacttgcaaaaagaggCagtcttcggaatctgacatt	10	7	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:107491997C>T	uc010hpr.2	+	11	1756	c.1429C>T	c.(1429-1431)CAG>TAG	p.Q477*	BBX_uc003dwk.3_Nonsense_Mutation_p.Q477*|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Nonsense_Mutation_p.Q498*|BBX_uc003dwm.3_Nonsense_Mutation_p.Q477*|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	477	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAAAAGAGGCAGTCTTCGGA	0.408													T	107491997	C	T	107491997	4	4	273	1	0	0	0	0	0	1	0	0	1343	711	25	2	1459	2	BBX	3	107491997	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	7462663	107491997	90530433	368	137665											
SLC9A10	285335	broad.mit.edu	37	chr3	111898417	111898417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagaatatttcataggTtcattagttaagcagtttat	9	4	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:111898417T>C	uc003dyu.2	-	23	3102	c.2880A>G	c.(2878-2880)GAA>GAG	p.E960E	SLC9A10_uc011bhu.1_Silent_p.E223E|SLC9A10_uc010hqc.2_Silent_p.E912E	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	960	cNMP.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						ATTTCATAGGTTCATTAGTTA	0.348													C	111898417	T	C	111898417	2	2	273	1	0	0	0	0	0	0	0	1	14710	1722	60	3		3	SLC9A10	3	111898417	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4406420	111898417	86124013	369	137666											
CCDC80	151887	broad.mit.edu	37	chr3	112357464	112357464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccttgctgggcctcctgGttgtctgtggcctctccctg	13	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:112357464G>A	uc003dzf.2	-	2	1507	c.1289C>T	c.(1288-1290)ACC>ATC	p.T430I	CCDC80_uc011bhv.1_Missense_Mutation_p.T430I|CCDC80_uc003dzg.2_Missense_Mutation_p.T430I|CCDC80_uc003dzh.1_Missense_Mutation_p.T430I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	430										ovary(2)	2						GGGCCTCCTGGTTGTCTGTGG	0.587													A	112357464	G	A	112357464	3	1	273	1	0	0	0	0	1	0	0	0	2854	1261	44	4	1591	4	CCDC80	3	112357464	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	459047	112357464	85664966	370	137667											
SIDT1	54847	broad.mit.edu	37	chr3	113300284	113300284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagaaagctgccatcaCgctacaggtgaggcattgct	11	11	1	2	rs145086177		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:113300284C>T	uc003eak.2	+	6	1391	c.740C>T	c.(739-741)ACG>ATG	p.T247M	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.T247M|SIDT1_uc011big.1_Translation_Start_Site	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	247	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GCTGCCATCACGCTACAGGTG	0.468													T	113300284	C	T	113300284	3	4	273	1	0	0	0	0	1	0	0	0	14302	536	19	1	762	1	SIDT1	3	113300284	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	942820	113300284	84722146	371	137668											
IGSF11	152404	broad.mit.edu	37	chr3	118621466	118621466	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtaggaatgagtgtgTggaggccgaggcttcctact	16	6	0	1	rs146853299		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:118621466T>C	uc003ebw.2	-	7	1444	c.1197A>G	c.(1195-1197)CCA>CCG	p.P399P	IGSF11_uc011biv.1_Silent_p.P371P|IGSF11_uc003ebx.2_Silent_p.P375P|IGSF11_uc003eby.2_Silent_p.P398P|IGSF11_uc003ebz.2_Silent_p.P374P|IGSF11_uc010hqs.2_Silent_p.P398P	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	399	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						AATGAGTGTGTGGAGGCCGAG	0.557													C	118621466	T	C	118621466	2	2	273	1	0	0	0	0	0	0	0	1	7598	1683	59	3		3	IGSF11	3	118621466	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	5321182	118621466	79400964	372	137669											
POPDC2	64091	broad.mit.edu	37	chr3	119367156	119367156	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccgggtaggaggtgcAggaaagttggtggtagctgg	20	6	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:119367156A>G	uc003ecx.1	-	3	1094	c.960T>C	c.(958-960)CCT>CCC	p.P320P	POPDC2_uc010hqw.1_Silent_p.P320P|POPDC2_uc003ecy.1_Silent_p.P138P	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	320				ATTNFPAPPTRARL -> RFPPTFPALSYRGQVC (in Ref. 1).		integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)		TAGGAGGTGCAGGAAAGTTGG	0.592													G	119367156	A	G	119367156	2	3	273	1	0	0	0	0	0	0	0	1	12255	175	7	3		3	POPDC2	3	119367156	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	745690	119367156	78655274	373	137670											
C3orf15	89876	broad.mit.edu	37	chr3	119445068	119445068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgatagaaagagccCgcgagaagcgtgcttgggaa	16	6	0	5	rs144275264		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:119445068C>T	uc003ede.3	+	7	810	c.733C>T	c.(733-735)CGC>TGC	p.R245C	C3orf15_uc010hqy.1_Missense_Mutation_p.R245C|C3orf15_uc010hqz.2_Missense_Mutation_p.R183C|C3orf15_uc011bjd.1_Missense_Mutation_p.R119C|C3orf15_uc011bje.1_Missense_Mutation_p.R225C|C3orf15_uc010hra.1_Missense_Mutation_p.R6C	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	245						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AGAAAGAGCCCGCGAGAAGCG	0.542													T	119445068	C	T	119445068	3	4	273	1	0	0	0	0	1	0	0	0	2209	652	23	1	759	1	C3orf15	3	119445068	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	77912	119445068	78577362	374	137671											
GSK3B	2932	broad.mit.edu	37	chr3	119562108	119562108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaacgttcttacctgacgCtgctgtggcatttgtggggg	14	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:119562108C>T	uc003edo.2	-	10	2172	c.1189G>A	c.(1189-1191)GCG>ACG	p.A397T	GSK3B_uc003edn.2_Missense_Mutation_p.A410T|GSK3B_uc003edm.2_Intron	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	397					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			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TTACCTGACGCTGCTGTGGCA	0.323													T	119562108	C	T	119562108	3	4	273	1	0	0	0	0	1	0	0	0	6824	797	28	2	81	2	GSK3B	3	119562108	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	117040	119562108	78460322	375	137672											
STXBP5L	9515	broad.mit.edu	37	chr3	121097669	121097669	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcgctggggtcctggaagAccaccatttcgaaaggccca	11	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:121097669A>G	uc003eec.3	+	22	2495	c.2355A>G	c.(2353-2355)AGA>AGG	p.R785R	STXBP5L_uc011bji.1_Silent_p.R761R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	785					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GTCCTGGAAGACCACCATTTC	0.408													G	121097669	A	G	121097669	2	3	273	1	0	0	0	0	0	0	0	1	15356	272	10	3		3	STXBP5L	3	121097669	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1535561	121097669	76924761	376	137673											
GOLGB1	2804	broad.mit.edu	37	chr3	121395738	121395738	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtctaacaagaaacacttAcgttgctgttcagttgctga	8	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:121395738A>G	uc003eei.3	-	17	9288	c.9162_splice	c.e17+1	p.N3054_splice	GOLGB1_uc010hrc.2_Splice_Site_p.N3059_splice|GOLGB1_uc003eej.3_Splice_Site_p.N3020_splice	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,						Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		AGAAACACTTACGTTGCTGTT	0.403													G	121395738	A	G	121395738	5	3	273	1	0	0	0	0	0	0	1	0	6565	405	14	3	639	3	GOLGB1	3	121395738	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	298069	121395738	76626692	377	137674											
GOLGB1	2804	broad.mit.edu	37	chr3	121413433	121413433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagttttttccttgactaaCtgctgcttttcttcttccaa	4	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:121413433C>T	uc003eei.3	-	13	6048	c.5922G>A	c.(5920-5922)CAG>CAA	p.Q1974Q	GOLGB1_uc010hrc.2_Silent_p.Q1979Q|GOLGB1_uc003eej.3_Silent_p.Q1940Q|GOLGB1_uc011bjm.1_Silent_p.Q1860Q|GOLGB1_uc010hrd.1_Silent_p.Q1938Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1974	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CCTTGACTAACTGCTGCTTTT	0.363													T	121413433	C	T	121413433	2	4	273	1	0	0	0	0	0	0	0	1	6565	564	20	4		4	GOLGB1	3	121413433	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	17695	121413433	76608997	378	137675											
ADCY5	111	broad.mit.edu	37	chr3	123010074	123010074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatggaggcgaacatgacCgccacacactcacaggactg	12	13	1	1	rs111603078		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:123010074C>T	uc003egh.1	-	18	3213	c.3213G>A	c.(3211-3213)GCG>GCA	p.A1071A	ADCY5_uc003egg.1_Silent_p.A729A	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1071	Cytoplasmic (Potential).|Guanylate cyclase 2.				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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CGAACATGACCGCCACACACT	0.592													T	123010074	C	T	123010074	2	4	273	1	0	0	0	0	0	0	0	1	297	639	23	1		1	ADCY5	3	123010074	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1596641	123010074	75012356	379	137676											
SLC41A3	54946	broad.mit.edu	37	chr3	125725966	125725966	+	Frame_Shift_Del	DEL	C	C	-													gaggccagtaccgagcaggtCccccagccctgtaaggtagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:125725966delC	uc003eij.2	-	11	1583	c.1357delG	c.(1357-1359)GACfs	p.D453fs	SLC41A3_uc003eii.2_Frame_Shift_Del_p.D427fs|SLC41A3_uc003eil.2_Frame_Shift_Del_p.D453fs|SLC41A3_uc003eik.2_Frame_Shift_Del_p.D417fs|SLC41A3_uc011bkh.1_Frame_Shift_Del_p.D336fs	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	453						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		CCGAGCAGGTCCCCCAGCCCT	0.582													-	125725966	C	-	125725966	7	5	273	1	0	1	0	1	0	0	0	0	14631	855	30	0	272	0	SLC41A3	3	125725966	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	2715892	125725966	72296464	380	137677											
PLXNA1	5361	broad.mit.edu	37	chr3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-													gtgagatccggtgcctgacaCcccccgggcagagccctggc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:126735390_126735390AC>A	uc003ejg.3	+	14	3045	c.3045_3045AC>A	c.(3043-3045)acafs	p.T1015fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1015	IPT/TIG 2.				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)		GGTGCCTGACACCCCCCGGGC	0.622													-	126735391	C	-	126735391	7	5	273	1	0	1	0	1	0	0	0	0	12119	507	18	0	3104	0	PLXNA1	3	126735391	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	1009425	126735391	71287039	381	137678											
MCM2	4171	broad.mit.edu	37	chr3	127335861	127335861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggctgtgggcctcacggCgtatgtccagcggcaccctg	15	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:127335861C>T	uc003ejp.2	+	10	1730	c.1673C>T	c.(1672-1674)GCG>GTG	p.A558V	MCM2_uc011bkm.1_Missense_Mutation_p.A428V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.A511V	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	558	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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGCCTCACGGCGTATGTCCAG	0.592													T	127335861	C	T	127335861	3	4	273	1	0	0	0	0	1	0	0	0	9386	768	27	1	1711	1	MCM2	3	127335861	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	600470	127335861	70686569	382	137679											
ABTB1	80325	broad.mit.edu	37	chr3	127395216	127395216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgtagtgcctactttgCcaacatgctggacaccaaat	8	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:127395216C>T	uc003ejt.2	+	5	510	c.422C>T	c.(421-423)GCC>GTC	p.A141V	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.A116V|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	141	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GCCTACTTTGCCAACATGCTG	0.572													T	127395216	C	T	127395216	3	4	273	1	0	0	0	0	1	0	0	0	102	739	26	2	440	2	ABTB1	3	127395216	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	59355	127395216	70627214	383	137680											
GATA2	2624	broad.mit.edu	37	chr3	128199894	128199894	+	Frame_Shift_Del	DEL	G	G	-													ggtcaccatgctggacgggtGggggtggccgaaggagaggc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:128199893_128199893TG>T	uc003ekm.3	-	6	1847	c.1412_1412CA>A	c.(1411-1413)cacfs	p.H471fs	GATA2_uc003ekn.3_Frame_Shift_Del_p.H457fs|GATA2_uc003eko.2_Frame_Shift_Del_p.H471fs	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	471					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|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)		GCTGGACGGGTGGGGGTGGCC	0.672			Mis		AML(CML blast transformation)								-	128199894	G	-	128199894	7	5	273	1	0	1	0	1	0	0	0	0	6254	1348	47	0	35	0	GATA2	3	128199894	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	804678	128199894	69822536	384	137681											
PLXND1	23129	broad.mit.edu	37	chr3	129308232	129308232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtgcccaggaagaccgCtgtgtagttgttgacgctgg	15	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:129308232C>A	uc003emx.2	-	2	1550	c.1450G>T	c.(1450-1452)GCG>TCG	p.A484S		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	484	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGGAAGACCGCTGTGTAGTTG	0.682													A	129308232	C	A	129308232	3	1	273	1	0	0	0	0	1	0	0	0	12127	797	28	5	4467	5	PLXND1	3	129308232	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1108338	129308232	68714198	385	137682											
PIK3R4	30849	broad.mit.edu	37	chr3	130425790	130425790	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgactgggtgacacagtAcctgtgaagaagttgacaaa	11	7	0	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:130425790A>G	uc003enj.2	-	11	3302	c.2721_splice	c.e11+1	p.Q907_splice		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4						fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						GTGACACAGTACCTGTGAAGA	0.458													G	130425790	A	G	130425790	5	3	273	1	0	0	0	0	0	0	1	0	11921	405	14	3	1393	3	PIK3R4	3	130425790	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1117558	130425790	67596640	386	137683											
TOPBP1	11073	broad.mit.edu	37	chr3	133358955	133358955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgttctttcagtataagaTgagtactggcaaacatgcct	8	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:133358955T>C	uc003eps.2	-	13	2213	c.2081A>G	c.(2080-2082)CAT>CGT	p.H694R		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	694	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CAGTATAAGATGAGTACTGGC	0.388								Other_conserved_DNA_damage_response_genes					C	133358955	T	C	133358955	3	2	273	1	0	0	0	0	1	0	0	0	16366	1464	51	3	2551	3	TOPBP1	3	133358955	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2933165	133358955	64663475	387	137684											
PPP2R3A	5523	broad.mit.edu	37	chr3	135720729	135720729	+	Frame_Shift_Del	DEL	A	A	-													aataaaagaattttcctttgAaaaactcaaaaactctaacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:135720729delA	uc003eqv.1	+	2	954	c.389delA	c.(388-390)GAAfs	p.E130fs	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	130					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TTTTCCTTTGAAAAACTCAAA	0.373													-	135720729	A	-	135720729	7	5	273	1	0	1	0	1	0	0	0	0	12388	246	9	0	391	0	PPP2R3A	3	135720729	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	2361774	135720729	62301701	388	137685											
NCK1	4690	broad.mit.edu	37	chr3	136664754	136664754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagcagtcgtcaataacCtaaatactgggcaagtgttg	10	8	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:136664754C>T	uc003erh.2	+	3	663	c.556C>T	c.(556-558)CTA>TTA	p.L186L	NCK1_uc011bme.1_Silent_p.L122L	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	186					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			pancreas(1)	1						CGTCAATAACCTAAATACTGG	0.423													T	136664754	C	T	136664754	2	4	273	1	0	0	0	0	0	0	0	1	10219	680	24	4		4	NCK1	3	136664754	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	944025	136664754	61357676	389	137686											
FOXL2	668	broad.mit.edu	37	chr3	138665127	138665127	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagggcctcttcatgcggcgGcggcgccggtagttgccctt	15	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:138665127G>C	uc003esw.2	-	1	856	c.438C>G	c.(436-438)CGC>CGG	p.R146R	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	146	Fork-head.				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			ovary(266)|large_intestine(1)|skin(1)	268						TCATGCGGCGGCGGCGCCGGT	0.577			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III						C	138665127	G	C	138665127	2	2	273	1	0	0	0	0	0	0	0	1	6017	1190	42	5		5	FOXL2	3	138665127	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2000373	138665127	59357303	390	137687											
ZBTB38	253461	broad.mit.edu	37	chr3	141162564	141162564	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtaccggaagtactttgcCagacacggaccacatggtta	10	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:141162564C>A	uc003etw.2	+	8	2316	c.1334C>A	c.(1333-1335)CCA>CAA	p.P445Q	ZBTB38_uc010hun.2_Missense_Mutation_p.P442Q|ZBTB38_uc010huo.2_Missense_Mutation_p.P445Q|ZBTB38_uc003ety.2_Missense_Mutation_p.P445Q|ZBTB38_uc010hup.2_Missense_Mutation_p.P446Q	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	445					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGTACTTTGCCAGACACGGAC	0.413													A	141162564	C	A	141162564	3	1	273	1	0	0	0	0	1	0	0	0	17536	594	21	5	1336	5	ZBTB38	3	141162564	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2497437	141162564	56859866	391	137688											
RASA2	5922	broad.mit.edu	37	chr3	141327450	141327450	+	Frame_Shift_Del	DEL	T	T	-													tgcaatcaaaacaggctcagTttttatcatccctctgtgta							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:141327450delT	uc003etz.1	+	21	2136	c.2136delT	c.(2134-2136)AGTfs	p.S712fs	RASA2_uc010huq.1_Frame_Shift_Del_p.S716fs|RASA2_uc003eua.1_Frame_Shift_Del_p.S713fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	712	Btk-type.				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			ovary(2)|lung(2)|breast(1)|skin(1)	6						ACAGGCTCAGTTTTTATCATC	0.463													-	141327450	T	-	141327450	7	5	273	1	0	1	0	1	0	0	0	0	13061	1722	60	0	2218	0	RASA2	3	141327450	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	164886	141327450	56694980	392	137689											
ATR	545	broad.mit.edu	37	chr3	142243013	142243013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataggttctactgtttcaCtgtctgttgcatactttatc	6	8	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:142243013C>T	uc003eux.3	-	22	4096	c.3974G>A	c.(3973-3975)AGT>AAT	p.S1325N		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1325					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			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TACTGTTTCACTGTCTGTTGC	0.363								Other_conserved_DNA_damage_response_genes					T	142243013	C	T	142243013	3	4	273	1	0	0	0	0	1	0	0	0	1204	565	20	4	4064	4	ATR	3	142243013	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	915563	142243013	55779417	393	137690											
TRPC1	7220	broad.mit.edu	37	chr3	142443573	142443573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctggcgtgcgacaagGgtgagagttaggcccctttc	14	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:142443573G>A	uc003evc.2	+	1	308	c.172G>A	c.(172-174)GGT>AGT	p.G58S	TRPC1_uc003evb.2_Missense_Mutation_p.G58S	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	58	Cytoplasmic (Potential).|ANK 1.				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			ovary(2)	2						GTGCGACAAGGGTGAGAGTTA	0.547													A	142443573	G	A	142443573	3	1	273	1	0	0	0	0	1	0	0	0	16575	1246	43	4	174	4	TRPC1	3	142443573	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	200560	142443573	55578857	394	137691											
SR140	23350	broad.mit.edu	37	chr3	142773863	142773863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccccatcaccaaaatcGgagcgatcagagcgttcaga	8	12	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:142773863G>A	uc003evh.1	+	27	2952	c.2853G>A	c.(2851-2853)TCG>TCA	p.S951S	SR140_uc003evi.1_Silent_p.S542S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Silent_p.S950S	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	951	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						CACCAAAATCGGAGCGATCAG	0.483													A	142773863	G	A	142773863	2	1	273	1	0	0	0	0	0	0	0	1	15130	1103	39	1		1	SR140	3	142773863	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	330290	142773863	55248567	395	137692											
PLOD2	5352	broad.mit.edu	37	chr3	145822125	145822125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccaatgtgatgttaataGcttcctaaaacataagaata	6	6	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:145822125G>T	uc003evs.1	-	6	1126	c.620C>A	c.(619-621)GCT>GAT	p.A207D	PLOD2_uc011bnm.1_Missense_Mutation_p.A152D|PLOD2_uc003evr.1_Missense_Mutation_p.A207D	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	207					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	GATGTTAATAGCTTCCTAAAA	0.303													T	145822125	G	T	145822125	3	4	273	1	0	0	0	0	1	0	0	0	12102	971	34	5	1716	5	PLOD2	3	145822125	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3048262	145822125	52200305	396	137693											
HPS3	84343	broad.mit.edu	37	chr3	148859112	148859112	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctgatatttcgtcctatgtCttgtctgatgacatcaagct	7	10	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:148859112C>G	uc003ewu.1	+	4	1055	c.915C>G	c.(913-915)GTC>GTG	p.V305V	HPS3_uc003ewt.1_Silent_p.V305V|HPS3_uc011bnq.1_Silent_p.V140V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	305						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGTCCTATGTCTTGTCTGATG	0.428									Hermansky-Pudlak_syndrome				G	148859112	C	G	148859112	2	3	273	1	0	0	0	0	0	0	0	1	7340	900	32	5		5	HPS3	3	148859112	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3036987	148859112	49163318	397	137694											
IGSF10	285313	broad.mit.edu	37	chr3	151163494	151163494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctgagtacttgcttgGgctagttcttcaatcacatc	8	9	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:151163494G>A	uc011bod.1	-	4	4275	c.4275C>T	c.(4273-4275)GCC>GCT	p.A1425A		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1425					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTTGCTTGGGCTAGTTCTT	0.403													A	151163494	G	A	151163494	2	1	273	1	0	0	0	0	0	0	0	1	7597	1219	43	4		4	IGSF10	3	151163494	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2304382	151163494	46858936	398	137695											
KCNAB1	7881	broad.mit.edu	37	chr3	156241698	156241698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagacctttccccaattgCggagcgtctgggatgcacac	10	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:156241698C>T	uc003far.2	+	12	1107	c.1043C>T	c.(1042-1044)GCG>GTG	p.A348V	KCNAB1_uc011bon.1_Missense_Mutation_p.A319V|KCNAB1_uc003fas.2_Missense_Mutation_p.A337V|KCNAB1_uc003fat.2_Missense_Mutation_p.A330V|KCNAB1_uc010hvt.1_Missense_Mutation_p.A301V|KCNAB1_uc011boo.1_Missense_Mutation_p.A224V	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	348						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCCCAATTGCGGAGCGTCTG	0.433													T	156241698	C	T	156241698	3	4	273	1	0	0	0	0	1	0	0	0	8009	768	27	1	1560	1	KCNAB1	3	156241698	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5078204	156241698	41780732	399	137696											
SMC4	10051	broad.mit.edu	37	chr3	160132281	160132281	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaaaaaactggagaaAcaacttcaaaaagataaaga	6	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:160132281A>C	uc003fdh.2	+	9	1361	c.1248A>C	c.(1246-1248)AAA>AAC	p.K416N	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.K416N|SMC4_uc010hwc.1_Missense_Mutation_p.K180N|SMC4_uc003fdi.2_Missense_Mutation_p.K391N|SMC4_uc003fdj.2_Missense_Mutation_p.K416N|SMC4_uc010hwd.2_Missense_Mutation_p.K416N|SMC4_uc003fdl.2_Missense_Mutation_p.K119N	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	416	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACTGGAGAAACAACTTCAAA	0.318													C	160132281	A	C	160132281	3	2	273	1	0	0	0	0	1	0	0	0	14785	40	2	5	1278	5	SMC4	3	160132281	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3890583	160132281	37890149	400	137697											
WDR49	151790	broad.mit.edu	37	chr3	167223102	167223102	+	Frame_Shift_Del	DEL	T	T	-													agtgactacttactgaatgaTttttttataacttcaccata							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:167223101_167223101AT>A	uc003fev.1	-	12	2126	c.1822_1822AT>T	c.(1822-1824)tcafs	p.S608fs	WDR49_uc003feu.1_Frame_Shift_Del_p.S433fs|WDR49_uc011bpd.1_Frame_Shift_Del_p.S573fs|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	608										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						TTACTGAATGATTTTTTTATA	0.274													-	167223102	T	-	167223102	7	5	273	1	0	1	0	1	0	0	0	0	17299	1490	52	0	284	0	WDR49	3	167223102	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	7090821	167223102	30799328	401	137698											
MECOM	2122	broad.mit.edu	37	chr3	168838939	168838939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccgggcatgcatgggccCgggcaccgacatgctgagag	15	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:168838939C>T	uc003ffi.3	-	6	742	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	MECOM_uc010hwk.1_Missense_Mutation_p.R181Q|MECOM_uc003ffj.3_Missense_Mutation_p.R223Q|MECOM_uc011bpi.1_Missense_Mutation_p.R159Q|MECOM_uc003ffn.3_Missense_Mutation_p.R158Q|MECOM_uc003ffk.2_Missense_Mutation_p.R158Q|MECOM_uc003ffl.2_Missense_Mutation_p.R318Q|MECOM_uc011bpj.1_Missense_Mutation_p.R346Q|MECOM_uc011bpk.1_Missense_Mutation_p.R148Q|MECOM_uc010hwn.2_Missense_Mutation_p.R346Q	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	158	Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						TGCATGGGCCCGGGCACCGAC	0.512													T	168838939	C	T	168838939	3	4	273	1	0	0	0	0	1	0	0	0	9422	652	23	1	2726	1	MECOM	3	168838939	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1615837	168838939	29183491	402	137699											
TNIK	23043	broad.mit.edu	37	chr3	170784061	170784061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcctgtttccactgacCggatctcaatagctttctcg	7	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:170784061C>T	uc003fhh.2	-	32	4259	c.3914G>A	c.(3913-3915)CGG>CAG	p.R1305Q	TNIK_uc003fhi.2_Missense_Mutation_p.R1250Q|TNIK_uc003fhj.2_Missense_Mutation_p.R1276Q|TNIK_uc003fhk.2_Missense_Mutation_p.R1297Q|TNIK_uc003fhl.2_Missense_Mutation_p.R1221Q|TNIK_uc003fhm.2_Missense_Mutation_p.R1242Q|TNIK_uc003fhn.2_Missense_Mutation_p.R1268Q|TNIK_uc003fho.2_Missense_Mutation_p.R1213Q|TNIK_uc003fhg.2_Missense_Mutation_p.R483Q	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1305	CNH.				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			ovary(4)|large_intestine(1)	5	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)			TTCCACTGACCGGATCTCAAT	0.388													T	170784061	C	T	170784061	3	4	273	1	0	0	0	0	1	0	0	0	16310	652	23	1	176	1	TNIK	3	170784061	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1945122	170784061	27238369	403	137700											
MFN1	55669	broad.mit.edu	37	chr3	179095137	179095137	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatattttcaggtttcAtgtgcaatgacagatgaaat	7	5	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:179095137A>G	uc003fjs.2	+	12	1356	c.1230A>G	c.(1228-1230)TCA>TCG	p.S410S	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.S438S|MFN1_uc010hxc.2_Silent_p.S263S	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	410	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	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)			TTCAGGTTTCATGTGCAATGA	0.239													G	179095137	A	G	179095137	2	3	273	1	0	0	0	0	0	0	0	1	9523	204	8	3		3	MFN1	3	179095137	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	8311076	179095137	18927293	404	137701											
MCF2L2	23101	broad.mit.edu	37	chr3	182925470	182925470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcgtatcttacagaacaCtattcccctttcaaataggt	4	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:182925470C>A	uc003fli.1	-	23	2728	c.2638G>T	c.(2638-2640)GTG>TTG	p.V880L		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	880	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	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)			TTACAGAACACTATTCCCCTT	0.428													A	182925470	C	A	182925470	3	1	273	1	0	0	0	0	1	0	0	0	9380	565	20	5	738	5	MCF2L2	3	182925470	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3830333	182925470	15096960	405	137702											
ABCC5	10057	broad.mit.edu	37	chr3	183660654	183660654	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccctcctggggccagtcAggggagggagccttgttctt	14	12	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:183660654A>G	uc003fmg.2	-	25	3720	c.3555T>C	c.(3553-3555)CCT>CCC	p.P1185P	ABCC5_uc011bqt.1_Silent_p.P713P|ABCC5_uc010hxl.2_Silent_p.P1142P	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1185						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGGCCAGTCAGGGGAGGGAG	0.537													G	183660654	A	G	183660654	2	3	273	1	0	0	0	0	0	0	0	1	56	175	7	3		3	ABCC5	3	183660654	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	735184	183660654	14361776	406	137703											
DVL3	1857	broad.mit.edu	37	chr3	183888273	183888273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgagcgctcagggccGgcggccagcgagcacagcca	15	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:183888273G>A	uc003fms.2	+	15	2021	c.1881G>A	c.(1879-1881)CCG>CCA	p.P627P	DVL3_uc011bqw.1_Silent_p.P610P|DVL3_uc003fmt.2_Silent_p.P298P|DVL3_uc003fmu.2_Silent_p.P459P	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	627					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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCTCAGGGCCGGCGGCCAGCG	0.741													A	183888273	G	A	183888273	2	1	273	1	0	0	0	0	0	0	0	1	4837	1103	39	1		1	DVL3	3	183888273	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	227619	183888273	14134157	407	137704											
PSMD2	5708	broad.mit.edu	37	chr3	184020266	184020266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgagattggcattgatGctcaatgacatggagttggt	13	6	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:184020266G>A	uc003fnn.1	+	6	846	c.813G>A	c.(811-813)ATG>ATA	p.M271I	PSMD2_uc011brj.1_Missense_Mutation_p.M112I|PSMD2_uc011brk.1_Missense_Mutation_p.M141I	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	271					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				0	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)	TGGCATTGATGCTCAATGACA	0.488													A	184020266	G	A	184020266	3	1	273	1	0	0	0	0	1	0	0	0	12698	1319	46	2	835	2	PSMD2	3	184020266	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	131993	184020266	14002164	408	137705											
CLCN2	1181	broad.mit.edu	37	chr3	184072024	184072024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgacaggcaggatgtggGcaatctggcctgtgagctcg	15	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:184072024G>A	uc003foi.2	-	15	1710	c.1586C>T	c.(1585-1587)GCC>GTC	p.A529V	CLCN2_uc003foh.2_Missense_Mutation_p.A53V|CLCN2_uc010hya.1_Missense_Mutation_p.A512V|CLCN2_uc011brl.1_Missense_Mutation_p.A529V|CLCN2_uc011brm.1_Missense_Mutation_p.A485V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	529						chloride channel complex	voltage-gated chloride channel activity				0	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)	CAGGATGTGGGCAATCTGGCC	0.597											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	184072024	G	A	184072024	3	1	273	1	0	0	0	0	1	0	0	0	3463	1203	42	2	1150	2	CLCN2	3	184072024	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	51758	184072024	13950406	409	137706											
DNAJB11	51726	broad.mit.edu	37	chr3	186293717	186293717	+	Frame_Shift_Del	DEL	T	T	-													tcagagctcccatggagacaTtttttcacagtgagtaattt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:186293716_186293716AT>A	uc003fqi.3	+	2	1048	c.313_313AT>A	c.(313-315)attfs	p.I105fs		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	105					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)		CCATGGAGACATTTTTTCACA	0.398													-	186293717	T	-	186293717	7	5	273	1	0	1	0	1	0	0	0	0	4616	1493	52	0	324	0	DNAJB11	3	186293717	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	2221693	186293717	11728713	410	137707											
DNAJB11	51726	broad.mit.edu	37	chr3	186299253	186299253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccagctgggccctgggCgcttccaaatgacccaggag	12	16	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:186299253C>T	uc003fqi.2	+	5	770	c.550C>T	c.(550-552)CGC>TGC	p.R184C		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	184					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GGGCCCTGGGCGCTTCCAAAT	0.507													T	186299253	C	T	186299253	3	4	273	1	0	0	0	0	1	0	0	0	4616	768	27	1	568	1	DNAJB11	3	186299253	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5536	186299253	11723177	411	137708											
HRASLS	57110	broad.mit.edu	37	chr3	192980889	192980889	+	Frame_Shift_Del	DEL	C	C	-													aataaatacgatgaaacgtaCccccctctccctgtggaaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:192980889delC	uc003fta.2	+	3	675	c.270delC	c.(268-270)TACfs	p.Y90fs		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	90											0	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)		ATGAAACGTACCCCCCTCTCC	0.418													-	192980889	C	-	192980889	7	5	273	1	0	1	0	1	0	0	0	0	7349	518	18	0	276	0	HRASLS	3	192980889	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	6681636	192980889	5041541	412	137709											
MUC4	4585	broad.mit.edu	37	chr3	195495938	195495938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgagcgctgggccacgTcccactgcatcccaccgctc	10	19	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:195495938T>C	uc011bto.1	-	8	13560	c.13100A>G	c.(13099-13101)GAC>GGC	p.D4367G	MUC4_uc003fuz.2_Missense_Mutation_p.T123A|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_Missense_Mutation_p.T41A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T41A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.D59G|MUC4_uc011bti.1_Missense_Mutation_p.D59G|MUC4_uc011btj.1_Missense_Mutation_p.D236G|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Missense_Mutation_p.D4G|MUC4_uc011btm.1_Missense_Mutation_p.D184G|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.D259G|MUC4_uc003fvp.2_Missense_Mutation_p.D208G|MUC4_uc010hzu.1_Missense_Mutation_p.D1107G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1252	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		CTGGGCCACGTCCCACTGCAT	0.627													C	195495938	T	C	195495938	3	2	273	1	0	0	0	0	1	0	0	0	9978	1667	58	3	2830	3	MUC4	3	195495938	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2515049	195495938	2526492	413	137710											
PAK2	5062	broad.mit.edu	37	chr3	196533500	196533500	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgacagaggaggaggaTgatgatgaagagactgctcc	16	5	0	6			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:196533500T>G	uc003fwy.3	+	6	841	c.519T>G	c.(517-519)GAT>GAG	p.D173E		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	173					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			ovary(1)|lung(1)	2	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)		AGGAGGAGGATGATGATGAAG	0.498													G	196533500	T	G	196533500	3	3	273	1	0	0	0	0	1	0	0	0	11401	1461	51	5	537	5	PAK2	3	196533500	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1037562	196533500	1488930	414	137711											
KIAA0226	9711	broad.mit.edu	37	chr3	197427915	197427915	+	Frame_Shift_Del	DEL	G	G	-													ctagtgcagagactgaaactGggggggcttggatggtttga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:197427915delG	uc003fyc.2	-	7	1013	c.830delC	c.(829-831)CCAfs	p.P277fs	KIAA0226_uc003fyd.3_Frame_Shift_Del_p.P217fs|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Frame_Shift_Del_p.P110fs|KIAA0226_uc003fyg.2_Frame_Shift_Del_p.P270fs	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	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)		GACTGAAACTGGGGGGGCTTG	0.552													-	197427915	G	-	197427915	7	5	273	1	0	1	0	1	0	0	0	0	8162	1348	47	0	2193	0	KIAA0226	3	197427915	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	894415	197427915	594515	415	137712											
FGFRL1	53834	broad.mit.edu	37	chr4	1018191	1018191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttccagtgcaaggtgCgcagcgacgtgaagccggtg	15	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:1018191C>T	uc003gce.2	+	6	972	c.811C>T	c.(811-813)CGC>TGC	p.R271C	FGFRL1_uc003gcf.2_Missense_Mutation_p.R271C|FGFRL1_uc003gcg.2_Missense_Mutation_p.R271C|FGFRL1_uc010ibo.2_Missense_Mutation_p.R271C	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	271	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGCAAGGTGCGCAGCGACGT	0.657													T	1018191	C	T	1018191	3	4	273	1	0	0	0	0	1	0	0	0	5869	768	27	1	829	1	FGFRL1	4	1018191	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08		1018191	190136085	416	137713											
HAUS3	79441	broad.mit.edu	37	chr4	2240395	2240395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatctgttgagaaactgatgGatctgttaacatttctaatt	7	5	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2240395G>T	uc003ges.1	-	3	1515	c.1285C>A	c.(1285-1287)CCA>ACA	p.P429T	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.P429T|HAUS3_uc003get.1_Missense_Mutation_p.P429T	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	429					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						GAAACTGATGGATCTGTTAAC	0.323													T	2240395	G	T	2240395	3	4	273	1	0	0	0	0	1	0	0	0	6967	1174	41	5	538	5	HAUS3	4	2240395	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1222204	2240395	188913881	417	137714											
HAUS3	79441	broad.mit.edu	37	chr4	2240518	2240518	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatttcatatgataactGtagaagttcaaatgatgcct	6	6	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2240518G>A	uc003ges.1	-	3	1392	c.1162C>T	c.(1162-1164)CAG>TAG	p.Q388*	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Nonsense_Mutation_p.Q388*|HAUS3_uc003get.1_Nonsense_Mutation_p.Q388*	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	388					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						TATGATAACTGTAGAAGTTCA	0.294													A	2240518	G	A	2240518	4	1	273	1	0	0	0	0	0	1	0	0	6967	1386	48	4	661	4	HAUS3	4	2240518	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	123	2240518	188913758	418	137715											
SH3BP2	6452	broad.mit.edu	37	chr4	2824766	2824766	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagtggctataaccggTaagtgcccgacctgcctgct	11	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2824766T>C	uc003gfi.3	+	3	359	c.239_splice	c.e3+2	p.R80_splice	SH3BP2_uc010icn.2_Splice_Site_p.R80_splice|SH3BP2_uc011bvp.1_Splice_Site_p.R108_splice|SH3BP2_uc003gfj.3_Splice_Site_p.R137_splice|SH3BP2_uc003gfk.3_Splice_Site_p.R80_splice|SH3BP2_uc003gfl.3_Splice_Site	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a						signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTATAACCGGTAAGTGCCCGA	0.637									Cherubism				C	2824766	T	C	2824766	5	2	273	1	0	0	0	0	0	0	1	0	14245	1652	57	3	506	3	SH3BP2	4	2824766	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	584248	2824766	188329510	419	137716											
MFSD10	10227	broad.mit.edu	37	chr4	2933848	2933848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggctgagcagatcagcCgcatcacggaaccccagggc	15	13	2	2	rs149717504		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2933848C>T	uc003gfw.2	-	6	1040	c.726G>A	c.(724-726)GCG>GCA	p.A242A	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Silent_p.A66A|MFSD10_uc003gfz.2_Silent_p.A242A|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.A242A|MFSD10_uc003ggb.1_Silent_p.A242A|MFSD10_uc003ggc.2_Silent_p.A242A|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	242					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGATCAGCCGCATCACGGA	0.672													T	2933848	C	T	2933848	2	4	273	1	0	0	0	0	0	0	0	1	9528	639	23	1		1	MFSD10	4	2933848	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	109082	2933848	188220428	420	137717											
EVC2	132884	broad.mit.edu	37	chr4	5570350	5570350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccatcctcgccaggtaCgatgccagtctcagctccta	9	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:5570350C>T	uc003gij.2	-	20	3432	c.3378G>A	c.(3376-3378)TCG>TCA	p.S1126S	EVC2_uc011bwb.1_Silent_p.S566S|EVC2_uc003gik.2_Silent_p.S1046S	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1126						integral to membrane				large_intestine(3)|ovary(2)	5						TCGCCAGGTACGATGCCAGTC	0.582													T	5570350	C	T	5570350	2	4	273	1	0	0	0	0	0	0	0	1	5286	523	19	1		1	EVC2	4	5570350	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2636502	5570350	185583926	421	137718											
EVC2	132884	broad.mit.edu	37	chr4	5624286	5624286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatcaggtgctcccagcGtcgcagctctgcctgctcct	11	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:5624286G>A	uc003gij.2	-	14	2533	c.2479C>T	c.(2479-2481)CGC>TGC	p.R827C	EVC2_uc011bwb.1_Missense_Mutation_p.R267C|EVC2_uc003gik.2_Missense_Mutation_p.R747C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	827						integral to membrane				large_intestine(3)|ovary(2)	5						TGCTCCCAGCGTCGCAGCTCT	0.453													A	5624286	G	A	5624286	3	1	273	1	0	0	0	0	1	0	0	0	5286	1145	40	1	1483	1	EVC2	4	5624286	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	53936	5624286	185529990	422	137719											
TBC1D14	57533	broad.mit.edu	37	chr4	7011642	7011642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttgcacagtattttgggCgcttatacttgttaccggcc	10	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:7011642C>T	uc011bwg.1	+	10	1564	c.1485C>T	c.(1483-1485)GGC>GGT	p.G495G	TBC1D14_uc003gjs.3_Silent_p.G495G|TBC1D14_uc010idh.2_Silent_p.G215G|TBC1D14_uc011bwh.1_Silent_p.G142G|TBC1D14_uc003gju.3_Intron	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	495	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						GTATTTTGGGCGCTTATACTT	0.388													T	7011642	C	T	7011642	2	4	273	1	0	0	0	0	0	0	0	1	15600	755	27	1		1	TBC1D14	4	7011642	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1387356	7011642	184142634	423	137720											
CCDC96	257236	broad.mit.edu	37	chr4	7043547	7043547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttctccagccgcacggcGctcatctccttctccttttt	6	16	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:7043547G>A	uc003gjv.2	-	1	1182	c.1119C>T	c.(1117-1119)AGC>AGT	p.S373S	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	373	Potential.										0						GCCGCACGGCGCTCATCTCCT	0.592													A	7043547	G	A	7043547	2	1	273	1	0	0	0	0	0	0	0	1	2874	1078	38	1		1	CCDC96	4	7043547	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	31905	7043547	184110729	424	137721											
TADA2B	93624	broad.mit.edu	37	chr4	7056173	7056173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaaagagagacagcggCggaagaacatcgcccgtgac	14	10	0	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:7056173C>T	uc003gjw.3	+	2	806	c.655C>T	c.(655-657)CGG>TGG	p.R219W	TADA2B_uc010idi.2_Missense_Mutation_p.R144W	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GAGACAGCGGCGGAAGAACAT	0.572													T	7056173	C	T	7056173	3	4	273	1	0	0	0	0	1	0	0	0	15508	759	27	1	661	1	TADA2B	4	7056173	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	12626	7056173	184098103	425	137722											
FBXL5	26234	broad.mit.edu	37	chr4	15628520	15628520	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaatgcagaatctgaaatgTcagtctgggtaagatccaga	10	7	3	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:15628520T>A	uc003goc.1	-	8	1203	c.1100A>T	c.(1099-1101)GAC>GTC	p.D367V	FBXL5_uc010idw.1_Missense_Mutation_p.D280V|FBXL5_uc003gob.1_Missense_Mutation_p.D241V|FBXL5_uc010idx.1_Missense_Mutation_p.D366V|FBXL5_uc003god.1_Missense_Mutation_p.D350V|FBXL5_uc010idy.1_Missense_Mutation_p.D367V	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	367	LRR 2.				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				0						ATCTGAAATGTCAGTCTGGGT	0.303													A	15628520	T	A	15628520	3	1	273	1	0	0	0	0	1	0	0	0	5722	1667	58	5	991	5	FBXL5	4	15628520	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	8572347	15628520	175525756	426	137723											
PCDH7	5099	broad.mit.edu	37	chr4	30921914	30921914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagggccaagactgggtgCgcttccactcccagaggaca	12	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:30921914C>T	uc011bxx.1	+	2	4322	c.3314C>T	c.(3313-3315)GCG>GTG	p.A1105V	PCDH7_uc011bxw.1_Missense_Mutation_p.A1058V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	Error:Variant_position_missing_in_O60245_after_alignment					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AGACTGGGTGCGCTTCCACTC	0.547													T	30921914	C	T	30921914	3	4	273	1	0	0	0	0	1	0	0	0	11516	768	27	1	3405	1	PCDH7	4	30921914	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	15293394	30921914	160232362	427	137724											
ARAP2	116984	broad.mit.edu	37	chr4	36115818	36115818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcattttcaatgacttcaAatgtggcccaaatatcacct	4	11	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:36115818A>G	uc003gsq.1	-	26	4468	c.4130T>C	c.(4129-4131)TTT>TCT	p.F1377S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1377	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AATGACTTCAAATGTGGCCCA	0.299													G	36115818	A	G	36115818	3	3	273	1	0	0	0	0	1	0	0	0	839	14	1	3	1016	3	ARAP2	4	36115818	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	5193904	36115818	155038458	428	137725											
YIPF7	285525	broad.mit.edu	37	chr4	44626737	44626737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaggttcagcaaggcAtgaatcacaaggcagccaat	9	11	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:44626737A>G	uc010ifx.1	-	5	578	c.561T>C	c.(559-561)CAT>CAC	p.H187H		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	187	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0						TCAGCAAGGCATGAATCACAA	0.512													G	44626737	A	G	44626737	2	3	273	1	0	0	0	0	0	0	0	1	17480	214	8	3		3	YIPF7	4	44626737	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	8510919	44626737	146527539	429	137726											
FRYL	285527	broad.mit.edu	37	chr4	48567646	48567646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggacctgcccagtgacTgaacagcataaatagactgt	9	9	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:48567646T>C	uc003gyh.1	-	29	3837	c.3232A>G	c.(3232-3234)AGT>GGT	p.S1078G	FRYL_uc003gyk.2_Missense_Mutation_p.S1078G|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCCCAGTGACTGAACAGCATA	0.368													C	48567646	T	C	48567646	3	2	273	1	0	0	0	0	1	0	0	0	6064	1580	55	3	5953	3	FRYL	4	48567646	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3940909	48567646	142586630	430	137727											
LRRC66	339977	broad.mit.edu	37	chr4	52861931	52861931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagccctcgtttgaataCgcgttgtccaggccagggct	12	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:52861931C>T	uc003gzi.2	-	4	1270	c.1257G>A	c.(1255-1257)GCG>GCA	p.A419A		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	419						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CGTTTGAATACGCGTTGTCCA	0.537													T	52861931	C	T	52861931	2	4	273	1	0	0	0	0	0	0	0	1	9018	523	19	1		1	LRRC66	4	52861931	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4294285	52861931	138292345	431	137728											
PDGFRA	5156	broad.mit.edu	37	chr4	55156584	55156584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtgtcacctacaaaaaCgaggaagacaagctgaagga	11	7	1	2	rs138801854		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:55156584C>T	uc003han.3	+	22	3316	c.2985C>T	c.(2983-2985)AAC>AAT	p.N995N	PDGFRA_uc003haa.2_Silent_p.N755N	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	995	Cytoplasmic (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	CCTACAAAAACGAGGAAGACA	0.512			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	55156584	C	T	55156584	2	4	273	1	0	0	0	0	0	0	0	1	11661	535	19	1		1	PDGFRA	4	55156584	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2294653	55156584	135997692	432	137729											
UGT2B10	7365	broad.mit.edu	37	chr4	69874590	69874590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgaaggatcattaattActgtcttcagtgcattcagc	7	10	5	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:69874590A>G	uc011cao.1	-	8	1317	c.1181T>C	c.(1180-1182)GTA>GCA	p.V394A	UGT2B10_uc011can.1_Missense_Mutation_p.V310A			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	431					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						ATCATTAATTACTGTCTTCAG	0.368													G	69874590	A	G	69874590	3	3	273	1	0	0	0	0	1	0	0	0	16953	391	14	3	1913	3	UGT2B10	4	69874590	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	14718006	69874590	121279686	433	137730											
ANKRD17	26057	broad.mit.edu	37	chr4	73956980	73956980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacctgagactgctgaagaGgtggtcttggttcctgagaa	14	7	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:73956980G>T	uc003hgp.2	-	29	6482	c.6365C>A	c.(6364-6366)CCT>CAT	p.P2122H	ANKRD17_uc003hgo.2_Missense_Mutation_p.P2009H|ANKRD17_uc003hgq.2_Missense_Mutation_p.P1871H|ANKRD17_uc003hgr.2_Missense_Mutation_p.P2121H	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2122					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			CTGCTGAAGAGGTGGTCTTGG	0.512													T	73956980	G	T	73956980	3	4	273	1	0	0	0	0	1	0	0	0	646	1000	35	5	1470	5	ANKRD17	4	73956980	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4082390	73956980	117197296	434	137731											
STBD1	8987	broad.mit.edu	37	chr4	77230676	77230676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaggaccgggttgaccaCgaggagtgggaaatggtgcc	17	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:77230676C>T	uc003hka.2	+	2	846	c.600C>T	c.(598-600)CAC>CAT	p.H200H	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.H51H	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	200	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			GGGTTGACCACGAGGAGTGGG	0.498													T	77230676	C	T	77230676	2	4	273	1	0	0	0	0	0	0	0	1	15273	535	19	1		1	STBD1	4	77230676	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3273696	77230676	113923600	435	137732											
FRAS1	80144	broad.mit.edu	37	chr4	79295337	79295337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagggccatttctcctctTggaagcccagtgtgtccagg	11	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:79295337T>C	uc003hlb.2	+	25	3523	c.3083T>C	c.(3082-3084)TTG>TCG	p.L1028S	FRAS1_uc003hkw.2_Missense_Mutation_p.L1028S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1027	FU 13.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTTCTCCTCTTGGAAGCCCAG	0.493													C	79295337	T	C	79295337	3	2	273	1	0	0	0	0	1	0	0	0	6042	1821	63	3	3181	3	FRAS1	4	79295337	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2064661	79295337	111858939	436	137733											
PLAC8	51316	broad.mit.edu	37	chr4	84028970	84028970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttacagactccgcagtcGctgaaacagtcacacatgcc	7	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:84028970G>A	uc003hoe.2	-	2	266	c.105C>T	c.(103-105)AGC>AGT	p.S35S	PLAC8_uc011cco.1_Silent_p.S35S|PLAC8_uc010ijy.2_Intron|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Silent_p.S35S	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	35										ovary(1)	1		Hepatocellular(203;0.114)				CTCCGCAGTCGCTGAAACAGT	0.557													A	84028970	G	A	84028970	2	1	273	1	0	0	0	0	0	0	0	1	12015	1078	38	1		1	PLAC8	4	84028970	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4733633	84028970	107125306	437	137734											
PTPN13	5783	broad.mit.edu	37	chr4	87684104	87684104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagcttgtctcaaagcCaggtcaatggtttctttgcc	10	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:87684104C>T	uc003hpz.2	+	24	4258	c.3778C>T	c.(3778-3780)CAG>TAG	p.Q1260*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.Q1260*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.Q1241*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.Q1069*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1260						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTCTCAAAGCCAGGTCAATGG	0.537													T	87684104	C	T	87684104	4	4	273	1	0	0	0	0	0	1	0	0	12782	595	21	4	3868	4	PTPN13	4	87684104	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3655134	87684104	103470172	438	137735											
HERC6	55008	broad.mit.edu	37	chr4	89326076	89326076	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccctgccagaaataagcCgaattagccagtccatggca	8	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:89326076C>T	uc011cdi.1	+	9	1324	c.1141C>T	c.(1141-1143)CGA>TGA	p.R381*	HERC6_uc011cdj.1_Nonsense_Mutation_p.R381*|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	381					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAAATAAGCCGAATTAGCCA	0.438													T	89326076	C	T	89326076	4	4	273	1	0	0	0	0	0	1	0	0	7062	644	23	1	972	1	HERC6	4	89326076	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1641972	89326076	101828200	439	137736											
HERC3	8916	broad.mit.edu	37	chr4	89588627	89588627	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaactctcagcactccatGattctagaacaggtatgttt	7	9	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:89588627G>T	uc003hrw.1	+	13	1597	c.1431G>T	c.(1429-1431)ATG>ATT	p.M477I	HERC3_uc011cdn.1_Missense_Mutation_p.M359I|HERC3_uc011cdo.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	477					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AGCACTCCATGATTCTAGAAC	0.333													T	89588627	G	T	89588627	3	4	273	1	0	0	0	0	1	0	0	0	7059	1290	45	5	1473	5	HERC3	4	89588627	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	262551	89588627	101565649	440	137737											
MMRN1	22915	broad.mit.edu	37	chr4	90830508	90830508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttatgtcccaggtgggaaAggaccttgtggctggaccgg	15	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:90830508A>C	uc003hst.2	+	2	776	c.705A>C	c.(703-705)AAA>AAC	p.K235N	MMRN1_uc010iku.2_Missense_Mutation_p.K201N|MMRN1_uc011cds.1_5'UTR	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	235	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGGTGGGAAAGGACCTTGTG	0.423													C	90830508	A	C	90830508	3	2	273	1	0	0	0	0	1	0	0	0	9670	69	3	5	711	5	MMRN1	4	90830508	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1241881	90830508	100323768	441	137738											
TMSL3	7117	broad.mit.edu	37	chr4	91760120	91760120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtggatttttctcttgCgtctctgtcttcttcagttt	9	9	5	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:91760120C>T	uc003hsy.2	-	1	150	c.69G>A	c.(67-69)ACG>ACA	p.T23T	FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	NM_183049	NP_898870			thymosin-like 3												0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)		TTTTCTCTTGCGTCTCTGTCT	0.507													T	91760120	C	T	91760120	2	4	273	1	0	0	0	0	0	0	0	1	16256	755	27	1		1	TMSL3	4	91760120	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	929612	91760120	99394156	442	137739											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99300202	99300202	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgaccaagcaggtggTgcacagattgtaattgacca	12	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:99300202T>C	uc003htx.3	+	5	586	c.396T>C	c.(394-396)GGT>GGC	p.G132G	RAP1GDS1_uc003htu.2_Silent_p.G132G|RAP1GDS1_uc003htw.3_Silent_p.G133G|RAP1GDS1_uc003htv.3_Silent_p.G133G|RAP1GDS1_uc003htz.3_Intron|RAP1GDS1_uc003hty.3_Intron|RAP1GDS1_uc003hua.3_Intron	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	132							binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AAGCAGGTGGTGCACAGATTG	0.368			T	NUP98	T-ALL								C	99300202	T	C	99300202	2	2	273	1	0	0	0	0	0	0	0	1	13039	1683	59	3		3	RAP1GDS1	4	99300202	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	7540082	99300202	91854074	443	137740											
MTTP	4547	broad.mit.edu	37	chr4	100496086	100496086	+	Frame_Shift_Del	DEL	T	T	-													tatgattcttcttgctgtgcTttttctctgcttcatttcct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:100496086delT	uc003hvc.3	+	2	276	c.20delT	c.(19-21)CTTfs	p.L7fs	MTTP_uc011cej.1_Intron|MTTP_uc003hvb.2_Frame_Shift_Del_p.L7fs	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	7					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTTGCTGTGCTTTTTCTCTGC	0.428													-	100496086	T	-	100496086	7	5	273	1	0	1	0	1	0	0	0	0	9964	1609	56	0	22	0	MTTP	4	100496086	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1195884	100496086	90658190	444	137741											
SLC39A8	64116	broad.mit.edu	37	chr4	103228707	103228707	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggagtcaaaatcaaTccgaggagagatgccagatt	11	7	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:103228707T>A	uc003hwb.1	-	3	967	c.438A>T	c.(436-438)GGA>GGT	p.G146G	SLC39A8_uc011ceo.1_Silent_p.G146G|SLC39A8_uc003hwa.1_Silent_p.G79G|SLC39A8_uc003hwc.2_Silent_p.G146G	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	146	Helical; (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TCAAAATCAATCCGAGGAGAG	0.398													A	103228707	T	A	103228707	2	1	273	1	0	0	0	0	0	0	0	1	14624	1422	50	5		5	SLC39A8	4	103228707	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2732621	103228707	87925569	445	137742											
GSTCD	79807	broad.mit.edu	37	chr4	106744429	106744429	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcacatgctgccatcatgTcaggtaaagccagaataaga	9	10	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:106744429T>A	uc003hxz.3	+	7	1470	c.1398T>A	c.(1396-1398)TGT>TGA	p.C466*	GSTCD_uc003hxx.2_3'UTR|GSTCD_uc003hxy.3_Nonsense_Mutation_p.C379*|GSTCD_uc011cfb.1_Nonsense_Mutation_p.C89*	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	466						cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TGCCATCATGTCAGGTAAAGC	0.398													A	106744429	T	A	106744429	4	1	273	1	0	0	0	0	0	1	0	0	6835	1673	58	5	1420	5	GSTCD	4	106744429	Nonsense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3515722	106744429	84409847	446	137743											
COL25A1	84570	broad.mit.edu	37	chr4	109861694	109861694	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatccaaaaagcgactcaCgggtactcctggcattccac	9	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:109861694C>T	uc003hze.1	-	9	1203	c.672_splice	c.e9+1	p.P224_splice	COL25A1_uc003hzg.2_Splice_Site_p.P224_splice|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Splice_Site_p.P5_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AAGCGACTCACGGGTACTCCT	0.473													T	109861694	C	T	109861694	5	4	273	1	0	0	0	0	0	0	1	0	3684	550	19	1	1491	1	COL25A1	4	109861694	Splice_Site	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3117265	109861694	81292582	447	137744											
SEC24B	10427	broad.mit.edu	37	chr4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaacgggtacaagcacaCggctggatgatcgtgtatat	12	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110452568C>T	uc003hzk.2	+	20	3335	c.3280C>T	c.(3280-3282)CGG>TGG	p.R1094W	SEC24B_uc003hzl.2_Missense_Mutation_p.R1059W|SEC24B_uc011cfp.1_Missense_Mutation_p.R1124W|SEC24B_uc011cfq.1_Missense_Mutation_p.R1093W|SEC24B_uc011cfr.1_Missense_Mutation_p.R1058W	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1094					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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TACAAGCACACGGCTGGATGA	0.343													T	110452568	C	T	110452568	3	4	273	1	0	0	0	0	1	0	0	0	13995	527	19	1	3358	1	SEC24B	4	110452568	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	590874	110452568	80701708	448	137745											
LRIT3	345193	broad.mit.edu	37	chr4	110791079	110791080	+	Frame_Shift_Ins	INS	-	-	C													tctttggtcctcttccttctINScccccacatcttctttttct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110791079_110791080insC	uc003hzx.3	+	3	1232_1233	c.1039_1040insC	c.(1039-1041)TCCfs	p.S347fs	LRIT3_uc003hzw.3_Frame_Shift_Ins_p.S209fs	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	347	Ser-rich.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ctcttccttctcccccacatct	0.223													C	110791080	-	C	110791079	7	5	273	1	0	1	1	0	0	0	0	0	8949	1551	54	0	1049	0	LRIT3	4	110791079	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	338511	110791079	80363197	449	137746	717	2									
LRIT3	345193	broad.mit.edu	37	chr4	110791080	110791081	+	Frame_Shift_Ins	INS	-	-	C													ctttggtcctcttccttctcINSccccacatcttctttttctg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110791079_110791080T>TC	uc003hzx.4	+	2	1232_1233	c.1039_1040T>TC	c.(1039-1041)tccfs	p.S347fs	LRIT3_uc003hzw.4_Frame_Shift_Ins_p.S209fs	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	347	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ctcttccttctcccccacatct	0.46													C	110791081	-	C	110791080	7	5	273	1	0	1	1	0	0	0	0	0	8949	855	30	0	1050	0	LRIT3	4	110791080	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	110791080	80363196	450	137747	717	2									
EGF	1950	broad.mit.edu	37	chr4	110908975	110908975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggatgccacatgtcAgtgtttgaaaggatttgctg	15	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110908975A>G	uc003hzy.3	+	17	3019	c.2567A>G	c.(2566-2568)CAG>CGG	p.Q856R	EGF_uc011cfu.1_Missense_Mutation_p.Q814R|EGF_uc011cfv.1_Missense_Mutation_p.Q856R|EGF_uc010imk.2_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	856	EGF-like 6.|Extracellular (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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GCCACATGTCAGTGTTTGAAA	0.423													G	110908975	A	G	110908975	3	3	273	1	0	0	0	0	1	0	0	0	4962	188	7	3	2633	3	EGF	4	110908975	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	117895	110908975	80245301	451	137748											
ENPEP	2028	broad.mit.edu	37	chr4	111397807	111397807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaccaggacatctgcccGgccagtgaggatgagagcgg	16	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:111397807G>A	uc003iab.3	+	1	579	c.237G>A	c.(235-237)CCG>CCA	p.P79P		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	79	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACATCTGCCCGGCCAGTGAGG	0.657													A	111397807	G	A	111397807	2	1	273	1	0	0	0	0	0	0	0	1	5128	1103	39	1		1	ENPEP	4	111397807	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	488832	111397807	79756469	452	137749											
ENPEP	2028	broad.mit.edu	37	chr4	111464190	111464190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacattttcttcagcagatcGtgcaagtcttattgatgatg	9	7	3	3	rs142728357	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:111464190G>A	uc003iab.3	+	13	2306	c.1964G>A	c.(1963-1965)CGT>CAT	p.R655H		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	655	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCAGATCGTGCAAGTCTT	0.328													A	111464190	G	A	111464190	3	1	273	1	0	0	0	0	1	0	0	0	5128	1145	40	1	2014	1	ENPEP	4	111464190	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	66383	111464190	79690086	453	137750											
PITX2	5308	broad.mit.edu	37	chr4	111539810	111539810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggttgcgctccctcTttctccatttggcccgacga	9	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:111539810T>C	uc003iad.2	-	5	1007	c.425A>G	c.(424-426)AAG>AGG	p.K142R	PITX2_uc003iac.2_Missense_Mutation_p.K149R|PITX2_uc003iae.2_Missense_Mutation_p.K96R|PITX2_uc010iml.2_Missense_Mutation_p.K13R|PITX2_uc003iaf.2_Missense_Mutation_p.K142R	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	142	Homeobox.				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGCTCCCTCTTTCTCCATTT	0.557													C	111539810	T	C	111539810	3	2	273	1	0	0	0	0	1	0	0	0	11955	1609	56	3	532	3	PITX2	4	111539810	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	75620	111539810	79614466	454	137751											
METTL14	57721	broad.mit.edu	37	chr4	119631419	119631419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggctttagagggggcCgtggaggagcacacagaggt	20	6	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:119631419C>T	uc003icf.2	+	11	1449	c.1333C>T	c.(1333-1335)CGT>TGT	p.R445C	METTL14_uc003icg.2_Missense_Mutation_p.R407C	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	445	Gly-rich.					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0						TAGAGGGGGCCGTGGAGGAGC	0.468													T	119631419	C	T	119631419	3	4	273	1	0	0	0	0	1	0	0	0	9498	652	23	1	1375	1	METTL14	4	119631419	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	8091609	119631419	71522857	455	137752											
SYNPO2	171024	broad.mit.edu	37	chr4	119951742	119951742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagctacccccttctcGccaacccgaaacatgacgag	7	18	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:119951742G>A	uc003icm.3	+	4	2008	c.1812G>A	c.(1810-1812)TCG>TCA	p.S604S	SYNPO2_uc010ina.2_Silent_p.S604S|SYNPO2_uc010inb.2_Silent_p.S604S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.S532S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	604	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CCCCCTTCTCGCCAACCCGAA	0.557													A	119951742	G	A	119951742	2	1	273	1	0	0	0	0	0	0	0	1	15454	1074	38	1		1	SYNPO2	4	119951742	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	320323	119951742	71202534	456	137753											
BBS7	55212	broad.mit.edu	37	chr4	122754483	122754483	+	Frame_Shift_Del	DEL	A	A	-													ttctggaacttcaggcagacAaaaaaccacccaggagtgaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:122754482_122754482CA>C	uc003ied.3	-	14	1764	c.1580_1580TG>G	c.(1579-1581)tgtfs	p.C527fs	BBS7_uc003iee.2_Frame_Shift_Del_p.C527fs	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	527					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						TTCAGGCAGACAAAAAACCAC	0.413									Bardet-Biedl syndrome				-	122754483	A	-	122754483	7	5	273	1	0	1	0	1	0	0	0	0	1341	130	5	0	593	0	BBS7	4	122754483	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	2802741	122754483	68399793	457	137754											
FAT4	79633	broad.mit.edu	37	chr4	126241907	126241907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgactgcacatgacccTgatgcagacattaatggtca	9	10	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:126241907T>C	uc003ifj.3	+	1	4341	c.4341T>C	c.(4339-4341)CCT>CCC	p.P1447P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1447	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACATGACCCTGATGCAGACA	0.403													C	126241907	T	C	126241907	2	2	273	1	0	0	0	0	0	0	0	1	5692	1567	55	3		3	FAT4	4	126241907	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3487424	126241907	64912369	458	137755											
PCDH10	57575	broad.mit.edu	37	chr4	134072933	134072933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttttcaggtggaagcccgGgacgctggcagcccccaggc	15	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:134072933G>A	uc003iha.2	+	1	2464	c.1638G>A	c.(1636-1638)CGG>CGA	p.R546R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R546R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	546	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGAAGCCCGGGACGCTGGCA	0.567													A	134072933	G	A	134072933	2	1	273	1	0	0	0	0	0	0	0	1	11507	1219	43	4		4	PCDH10	4	134072933	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7831026	134072933	57081343	459	137756											
C4orf49	84709	broad.mit.edu	37	chr4	140201256	140201256	+	Frame_Shift_Del	DEL	G	G	-													tttccgagcggcgcggggttGgggggcgccctcagcggcag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:140201256delG	uc003ihr.1	-	1	237	c.57delC	c.(55-57)CCCfs	p.P19fs		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	ovary-specific acidic protein	19						integral to membrane				central_nervous_system(1)|skin(1)	2						GCGCGGGGTTGGGGGGCGCCC	0.721													-	140201256	G	-	140201256	7	5	273	1	0	1	0	1	0	0	0	0	2275	1335	47	0	681	0	C4orf49	4	140201256	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	6128323	140201256	50953020	460	137757											
NAA15	80155	broad.mit.edu	37	chr4	140264085	140264086	+	Frame_Shift_Ins	INS	-	-	T													ttatgaaatggcagcaaagaINSttttagaagaatttaggaaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:140264085_140264086insT	uc003ihu.1	+	5	764_765	c.508_509insT	c.(508-510)ATTfs	p.I170fs		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	170	TPR 3.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						GGCAGCAAAGATTTTAGAAGAA	0.351													T	140264086	-	T	140264085	7	5	273	1	0	1	1	0	0	0	0	0	10118	333	12	0	526	0	NAA15	4	140264085	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	62829	140264085	50890191	461	137758	718	2									
NAA15	80155	broad.mit.edu	37	chr4	140264086	140264087	+	Frame_Shift_Ins	INS	-	-	T													tatgaaatggcagcaaagatINStttagaagaatttaggaaaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:140264085_140264086A>AT	uc003ihu.1	+	4	764_765	c.508_509A>AT	c.(508-510)attfs	p.I170fs		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	170					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|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						GGCAGCAAAGATTTTAGAAGAA	0.351													T	140264087	-	T	140264086	7	5	273	1	0	1	1	0	0	0	0	0	10118	1493	52	0	527	0	NAA15	4	140264086	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	140264086	50890190	462	137759	718	2									
TBC1D9	23158	broad.mit.edu	37	chr4	141600843	141600843	+	Frame_Shift_Del	DEL	T	T	-													tccaaccctgacgggggaccTtccccttccaatagctgcaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:141600842_141600842CT>C	uc010ioj.3	-	3	788	c.516_516AG>G	c.(514-516)aagfs	p.K172fs		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	172	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding			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)				GACGGGGGACCTTCCCCTTCC	0.423													-	141600843	T	-	141600843	7	5	273	1	0	1	0	1	0	0	0	0	15624	1609	56	0	3357	0	TBC1D9	4	141600843	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1336757	141600843	49553433	463	137760											
HHIP	64399	broad.mit.edu	37	chr4	145636526	145636526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctgtctcggcactagtgGgtcctgtagaggctactttt	11	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:145636526G>T	uc003ijs.1	+	10	2277	c.1622G>T	c.(1621-1623)GGG>GTG	p.G541V		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	541						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428													T	145636526	G	T	145636526	3	4	273	1	0	0	0	0	1	0	0	0	7092	1232	43	5	1660	5	HHIP	4	145636526	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4035683	145636526	45517750	464	137761											
ZNF827	152485	broad.mit.edu	37	chr4	146686853	146686854	+	Frame_Shift_Ins	INS	-	-	G													ctgagagggaggatgaagagINSgggctatttgattcgctggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:146686852_146686853A>AG	uc003ikn.3	-	11	2946_2947	c.2898_2899T>CT	c.(2896-2901)ccctctfs	p.P966fs	ZNF827_uc003ikm.3_Frame_Shift_Ins_p.P966fs|ZNF827_uc010iox.3_Frame_Shift_Ins_p.P616fs|ZNF827_uc003ikl.3_Frame_Shift_Ins_p.P51fs	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	966	Poly-Ser.				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)					GAGGATGAAGAGGGGCTATTTG	0.455													G	146686854	-	G	146686853	7	5	273	1	0	1	1	0	0	0	0	0	18177	987	35	0	343	0	ZNF827	4	146686853	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1050327	146686853	44467423	465	137762											
GUCY1B3	2983	broad.mit.edu	37	chr4	156717621	156717621	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagggtcaaatgatctaCttacctgaagcagatagcat	8	9	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:156717621C>A	uc003ipc.2	+	8	1103	c.936C>A	c.(934-936)TAC>TAA	p.Y312*	GUCY1B3_uc011cio.1_Nonsense_Mutation_p.Y334*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.Y292*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.Y240*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.Y312*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.Y240*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.Y240*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	312					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				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAATGATCTACTTACCTGAAG	0.373													A	156717621	C	A	156717621	4	1	273	1	0	0	0	0	0	1	0	0	6895	576	20	5	966	5	GUCY1B3	4	156717621	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	10030768	156717621	34436655	466	137763											
GRIA2	2891	broad.mit.edu	37	chr4	158233830	158233830	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttttctttgccttcctaGgcttatcaacactgcaagct	5	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:158233830G>T	uc003ipm.3	+	4	929	c.470_splice	c.e4-1	p.G157_splice	GRIA2_uc011cit.1_Splice_Site_p.G110_splice|GRIA2_uc003ipl.3_Splice_Site_p.G157_splice|GRIA2_uc003ipk.3_Splice_Site_p.G110_splice|GRIA2_uc010iqh.1_Splice_Site	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2						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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGCCTTCCTAGGCTTATCAAC	0.353													T	158233830	G	T	158233830	5	4	273	1	0	0	0	0	0	0	1	0	6768	1014	35	5	483	5	GRIA2	4	158233830	Splice_Site	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1516209	158233830	32920446	467	137764											
RAPGEF2	9693	broad.mit.edu	37	chr4	160268152	160268152	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggatctcccaccttttggTaagtgattacattcatttct	6	9	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:160268152T>C	uc003iqg.3	+	19	3539	c.3229_splice	c.e19+2	p.G1077_splice		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2						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			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CACCTTTTGGTAAGTGATTAC	0.398													C	160268152	T	C	160268152	5	2	273	1	0	0	0	0	0	0	1	0	13044	1652	57	3	3305	3	RAPGEF2	4	160268152	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2034322	160268152	30886124	468	137765											
ODZ3	55714	broad.mit.edu	37	chr4	183721137	183721137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaacggcatcaacgtgaCggtgtcgcagtccaccacgg	14	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:183721137C>T	uc003ivd.1	+	27	7770	c.7733C>T	c.(7732-7734)ACG>ATG	p.T2578M		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2578	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATCAACGTGACGGTGTCGCAG	0.667													T	183721137	C	T	183721137	3	4	273	1	0	0	0	0	1	0	0	0	10836	536	19	1	7839	1	ODZ3	4	183721137	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	23452985	183721137	7433139	469	137766											
WWC2	80014	broad.mit.edu	37	chr4	184182199	184182199	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctattacagcagtcaaAgtgatcagatagatgtggat	9	6	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:184182199A>C	uc010irx.2	+	11	1605	c.1423A>C	c.(1423-1425)AGT>CGT	p.S475R	WWC2_uc003ivk.3_Missense_Mutation_p.S270R|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.S157R|WWC2_uc003ivn.3_Missense_Mutation_p.S39R	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	475	Ser-rich.									ovary(2)|lung(1)	3		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)		CAGCAGTCAAAGTGATCAGAT	0.493													C	184182199	A	C	184182199	3	2	273	1	0	0	0	0	1	0	0	0	17409	72	3	5	1465	5	WWC2	4	184182199	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	461062	184182199	6972077	470	137767											
FAT1	2195	broad.mit.edu	37	chr4	187539004	187539004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatcgtggtggactatcGttgacatcggtgacggtaac	14	7	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:187539004G>A	uc003izf.2	-	10	8924	c.8736C>T	c.(8734-8736)AAC>AAT	p.N2912N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2912	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTGGACTATCGTTGACATCGG	0.488										HNSCC(5;0.00058)			A	187539004	G	A	187539004	2	1	273	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAT1	4	187539004	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3356805	187539004	3615272	471	137768											
FAT1	2195	broad.mit.edu	37	chr4	187630248	187630248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggcctgttcgatgtgcAccgttagcttggccatgctg	12	11	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:187630248A>G	uc003izf.2	-	2	922	c.734T>C	c.(733-735)GTG>GCG	p.V245A	FAT1_uc010iso.1_Missense_Mutation_p.V245A	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	245	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTCGATGTGCACCGTTAGCTT	0.517										HNSCC(5;0.00058)			G	187630248	A	G	187630248	3	3	273	1	0	0	0	0	1	0	0	0	5689	159	6	3	13136	3	FAT1	4	187630248	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	91244	187630248	3524028	472	137769											
CEP72	55722	broad.mit.edu	37	chr5	637785	637785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggagggtttgggctGcccggagagaactcatgggt	18	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:637785G>A	uc003jbf.2	+	7	1130	c.1058G>A	c.(1057-1059)TGC>TAC	p.C353Y	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	353					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGTTTGGGCTGCCCGGAGAGA	0.602													A	637785	G	A	637785	3	1	273	1	0	0	0	0	1	0	0	0	3260	1319	46	2	1084	2	CEP72	5	637785	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		637785	180277475	473	137770											
IRX1	79192	broad.mit.edu	37	chr5	3599615	3599615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccaacgcgcgccggcgcCtcaagaaggagaacaaggtg	14	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:3599615C>T	uc003jde.2	+	2	605	c.553C>T	c.(553-555)CTC>TTC	p.L185F		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	185	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GCGCCGGCGCCTCAAGAAGGA	0.632													T	3599615	C	T	3599615	3	4	273	1	0	0	0	0	1	0	0	0	7843	681	24	4	559	4	IRX1	5	3599615	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2961830	3599615	177315645	474	137771											
KIAA0947	23379	broad.mit.edu	37	chr5	5464737	5464737	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagttatctgccagggccCggaccctcaacatcctcaaa	8	15	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:5464737C>A	uc003jdm.3	+	13	5512	c.5290C>A	c.(5290-5292)CGG>AGG	p.R1764R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1764										ovary(1)|central_nervous_system(1)	2						TGCCAGGGCCCGGACCCTCAA	0.527													A	5464737	C	A	5464737	2	1	273	1	0	0	0	0	0	0	0	1	8202	643	23	5		5	KIAA0947	5	5464737	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1865122	5464737	175450523	475	137772											
PAPD7	11044	broad.mit.edu	37	chr5	6746403	6746403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaattttttgaactctatgGgagaaattttaattacttga	7	3	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:6746403G>T	uc003jdx.1	+	7	701	c.572G>T	c.(571-573)GGG>GTG	p.G191V	PAPD7_uc011cmn.1_Missense_Mutation_p.G182V|PAPD7_uc010itl.1_Missense_Mutation_p.G11V	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	191	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			ovary(1)	1						GAACTCTATGGGAGAAATTTT	0.408											OREG0016494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6746403	G	T	6746403	3	4	273	1	0	0	0	0	1	0	0	0	11426	1232	43	5	594	5	PAPD7	5	6746403	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1281666	6746403	174168857	476	137773											
TRIO	7204	broad.mit.edu	37	chr5	14488155	14488156	+	Frame_Shift_Ins	INS	-	-	CC													tctctcggcaaggagcccttINScccccccagcagccccctgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:14488155_14488156insCC	uc003jff.2	+	48	7424_7425	c.7418_7419insCC	c.(7417-7419)TTCfs	p.F2473fs	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Frame_Shift_Ins_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2473					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AAGGAGCCCTTCCCCCCCAGCA	0.743													CC	14488156	-	CC	14488155	7	5	273	1	0	1	1	0	0	0	0	0	16549	1783	62	0	7608	0	TRIO	5	14488155	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	7741752	14488155	166427105	477	137774	719	2									
TRIO	7204	broad.mit.edu	37	chr5	14488156	14488157	+	Frame_Shift_Ins	INS	-	-	CC													ctctcggcaaggagcccttcINSccccccagcagccccctgca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:14488155_14488156T>TCC	uc003jff.3	+	47	7424_7425	c.7418_7419T>TCC	c.(7417-7419)ttcfs	p.F2473fs	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Frame_Shift_Ins_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2473					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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase 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)					AAGGAGCCCTTCCCCCCCAGCA	0.743													CC	14488157	-	CC	14488156	7	5	273	1	0	1	1	0	0	0	0	0	16549	854	30	0	7609	0	TRIO	5	14488156	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	14488156	166427104	478	137775	719	2									
TRIO	7204	broad.mit.edu	37	chr5	14504592	14504592	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacaagaagttgatgaagcgCgaccaggtcacccatgagct	11	10	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:14504592C>G	uc003jff.2	+	55	8508	c.8502C>G	c.(8500-8502)CGC>CGG	p.R2834R	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2834	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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGATGAAGCGCGACCAGGTCA	0.532													G	14504592	C	G	14504592	2	3	273	1	0	0	0	0	0	0	0	1	16549	755	27	5		5	TRIO	5	14504592	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	16436	14504592	166410668	479	137776											
FBXL7	23194	broad.mit.edu	37	chr5	15937067	15937067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaatgccctttggtatcCgacacgggcctggagtgcct	13	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:15937067C>T	uc003jfn.1	+	4	1729	c.1248C>T	c.(1246-1248)TCC>TCT	p.S416S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	416	LRR 10.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CTTTGGTATCCGACACGGGCC	0.607													T	15937067	C	T	15937067	2	4	273	1	0	0	0	0	0	0	0	1	5724	639	23	1		1	FBXL7	5	15937067	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1432475	15937067	164978193	480	137777											
CDH12	1010	broad.mit.edu	37	chr5	21751879	21751879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggttataactctcttcTtcgccaaacatgtctgccaa	6	12	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:21751879T>G	uc010iuc.2	-	12	2810	c.2352A>C	c.(2350-2352)GAA>GAC	p.E784D	CDH12_uc011cno.1_Missense_Mutation_p.E744D|CDH12_uc003jgk.2_Missense_Mutation_p.E784D|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	784	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AACTCTCTTCTTCGCCAAACA	0.433										HNSCC(59;0.17)			G	21751879	T	G	21751879	3	3	273	1	0	0	0	0	1	0	0	0	3098	1606	56	5	36	5	CDH12	5	21751879	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	5814812	21751879	159163381	481	137778											
CDH6	1004	broad.mit.edu	37	chr5	31322962	31322962	+	Frame_Shift_Del	DEL	A	A	-													gcagctctgaggcggcagcgAaaaaaagagcctttgatcat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:31322961_31322961GA>G	uc003jhe.2	+	11	2279	c.1919_1919GA>G	c.(1918-1920)cgafs	p.R640fs		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	640					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R640Q(2)|p.R640*(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGCGGCAGCGAAAAAAAGAG	0.453													-	31322962	A	-	31322962	7	5	273	1	0	1	0	1	0	0	0	0	3114	233	9	0	1962	0	CDH6	5	31322962	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	9571083	31322962	149592298	482	137779											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576779	33576779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgtagctacaaggcCtccctccgaggtaggaccag	12	11	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:33576779C>A	uc003jia.1	-	19	3515	c.3352G>T	c.(3352-3354)GGC>TGC	p.G1118C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1033C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1118	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GCTACAAGGCCTCCCTCCGAG	0.498										HNSCC(64;0.19)			A	33576779	C	A	33576779	3	1	273	1	0	0	0	0	1	0	0	0	257	681	24	5	1456	5	ADAMTS12	5	33576779	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2253817	33576779	147338481	483	137780											
C5orf42	65250	broad.mit.edu	37	chr5	37115140	37115140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttttttctgtatggtgaAagtggcagttcctatacaga	10	6	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:37115140A>C	uc011cpa.1	-	50	9391	c.9160T>G	c.(9160-9162)TTC>GTC	p.F3054V	C5orf42_uc003jko.1_Missense_Mutation_p.F85V|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.F1572V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F2147V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	3054										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGTATGGTGAAAGTGGCAGTT	0.328													C	37115140	A	C	37115140	3	2	273	1	0	0	0	0	1	0	0	0	2301	14	1	5	445	5	C5orf42	5	37115140	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3538361	37115140	143800120	484	137781											
C6	729	broad.mit.edu	37	chr5	41181560	41181560	+	Frame_Shift_Del	DEL	C	C	-													attggtacactgaaagagctCcccccctgacttgagaatga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:41181559_41181559TC>T	uc003jmk.2	-	6	1039	c.829_829GA>A	c.(829-831)agcfs	p.S277fs	C6_uc003jml.1_Frame_Shift_Del_p.S277fs	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	277	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)				CTGAAAGAGCTCCCCCCCTGA	0.378													-	41181560	C	-	41181560	7	5	273	1	0	1	0	1	0	0	0	0	2315	842	30	0	2024	0	C6	5	41181560	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	4066420	41181560	139733700	485	137782											
FBXO4	26272	broad.mit.edu	37	chr5	41929871	41929871	+	Frame_Shift_Del	DEL	T	T	-													atgtatggagctgtcacttcTtttttacactccctgatcat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:41929870_41929870CT>C	uc003jmq.3	+	2	553	c.497_497CT>C	c.(496-498)tctfs	p.S166fs	FBXO4_uc003jmp.3_Frame_Shift_Del_p.S166fs	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	166					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	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)				GCTGTCACTTCTTTTTTACAC	0.388													-	41929871	T	-	41929871	7	5	273	1	0	1	0	1	0	0	0	0	5748	1596	56	0	508	0	FBXO4	5	41929871	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	748311	41929871	138985389	486	137783											
MAP3K1	4214	broad.mit.edu	37	chr5	56177588	56177588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttcaccaggatgcgtcGccgtttgatggctattgcag	11	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:56177588G>A	uc003jqw.3	+	14	3062	c.2561G>A	c.(2560-2562)CGC>CAC	p.R854H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	854					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			ovary(1)|skin(1)	2		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)		AGGATGCGTCGCCGTTTGATG	0.473													A	56177588	G	A	56177588	3	1	273	1	0	0	0	0	1	0	0	0	9243	1087	38	1	2615	1	MAP3K1	5	56177588	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	14247717	56177588	124737672	487	137784											
ACTBL2	345651	broad.mit.edu	37	chr5	56778406	56778407	+	Frame_Shift_Ins	INS	-	-	C													ggcccatgcctaccataacgINSccctggtgtcgaggacgccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:56778406_56778407insC	uc003jrm.2	-	1	230_231	c.128_129insG	c.(127-129)GGCfs	p.G43fs		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	43						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		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)		CTACCATAACGCCCTGGTGTCG	0.589													C	56778407	-	C	56778406	7	5	273	1	0	1	1	0	0	0	0	0	194	1074	38	0	1005	0	ACTBL2	5	56778406	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	600818	56778406	124136854	488	137785	720	2									
ACTBL2	345651	broad.mit.edu	37	chr5	56778407	56778408	+	Frame_Shift_Ins	INS	-	-	C													gcccatgcctaccataacgcINScctggtgtcgaggacgccct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:56778406_56778407G>GC	uc003jrm.3	-	0	230_231	c.128_129C>GC	c.(127-129)ggcfs	p.G43fs		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	43						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)		CTACCATAACGCCCTGGTGTCG	0.589													C	56778408	-	C	56778407	7	5	273	1	0	1	1	0	0	0	0	0	194	739	26	0	1006	0	ACTBL2	5	56778407	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	56778407	124136853	489	137786	720	2									
FOXD1	2297	broad.mit.edu	37	chr5	72743584	72743584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catgtcggcggactccgggtCcagcgtccagtagttgccct	13	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:72743584C>A	uc003kcp.2	-	1	769	c.604G>T	c.(604-606)GAC>TAC	p.D202Y		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	forkhead box D1	202	Fork-head.				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				0		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GACTCCGGGTCCAGCGTCCAG	0.542													A	72743584	C	A	72743584	3	1	273	1	0	0	0	0	1	0	0	0	5996	855	30	5	795	5	FOXD1	5	72743584	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	15965177	72743584	108171676	490	137787											
GCNT4	51301	broad.mit.edu	37	chr5	74324983	74324984	+	Frame_Shift_Ins	INS	-	-	G													acaaatatctgaatgttatgINSggggggtgcttccttggaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:74324982_74324983T>TG	uc003kdn.3	-	0	1742_1743	c.880_881A>CA	c.(880-882)catfs	p.H294fs		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													G	74324984	-	G	74324983	7	5	273	1	0	1	1	0	0	0	0	0	6303	1348	47	0	485	0	GCNT4	5	74324983	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1581399	74324983	106590277	491	137788											
SV2C	22987	broad.mit.edu	37	chr5	75594678	75594678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttttaagtcctgcaCctttgaggatgtaacttcag	8	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:75594678C>T	uc003kei.1	+	10	1696	c.1562C>T	c.(1561-1563)ACC>ATC	p.T521I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	521	Extracellular (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGTCCTGCACCTTTGAGGAT	0.388													T	75594678	C	T	75594678	3	4	273	1	0	0	0	0	1	0	0	0	15416	507	18	4	1596	4	SV2C	5	75594678	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1269695	75594678	105320582	492	137789											
S100Z	170591	broad.mit.edu	37	chr5	76171297	76171297	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggaactgaaactgctccTgcagcgagagctcacggaat	14	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:76171297T>C	uc003kep.1	+	3	443	c.113T>C	c.(112-114)CTG>CCG	p.L38P	S100Z_uc003keq.3_Missense_Mutation_p.L38P	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	38	EF-hand 1.						calcium ion binding			ovary(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AAACTGCTCCTGCAGCGAGAG	0.502													C	76171297	T	C	76171297	3	2	273	1	0	0	0	0	1	0	0	0	13792	1580	55	3	115	3	S100Z	5	76171297	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	576619	76171297	104743963	493	137790											
PDE8B	8622	broad.mit.edu	37	chr5	76709128	76709128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttggaaaggaaagAgtaaaggtaggattttgata	11	2	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:76709128A>G	uc003kfa.2	+	17	1950	c.1905A>G	c.(1903-1905)AGA>AGG	p.R635R	PDE8B_uc003kfb.2_Silent_p.R615R|PDE8B_uc003kfc.2_Silent_p.R580R|PDE8B_uc003kfd.2_Silent_p.R588R|PDE8B_uc003kfe.2_Silent_p.R538R	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	635	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				0		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)		GAAAGGAAAGAGTAAAGGTAG	0.443													G	76709128	A	G	76709128	2	3	273	1	0	0	0	0	0	0	0	1	11654	301	11	3		3	PDE8B	5	76709128	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	537831	76709128	104206132	494	137791											
CMYA5	202333	broad.mit.edu	37	chr5	79028254	79028254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctacagcacatgtatcacaGgatcaaaaaatggagcctca	8	10	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:79028254G>T	uc003kgc.2	+	2	3738	c.3666G>T	c.(3664-3666)CAG>CAT	p.Q1222H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1222						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		ATGTATCACAGGATCAAAAAA	0.428													T	79028254	G	T	79028254	3	4	273	1	0	0	0	0	1	0	0	0	3590	991	35	5	3672	5	CMYA5	5	79028254	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2319126	79028254	101887006	495	137792											
ZFYVE16	9765	broad.mit.edu	37	chr5	79734457	79734457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggccagacctaagcaAttgtttagccttccatcaag	11	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:79734457A>G	uc003kgr.3	+	4	2255	c.1953A>G	c.(1951-1953)CAA>CAG	p.Q651Q	ZFYVE16_uc010jak.1_Silent_p.Q651Q|ZFYVE16_uc003kgp.2_Silent_p.Q651Q|ZFYVE16_uc003kgq.3_Silent_p.Q651Q|ZFYVE16_uc003kgs.3_Silent_p.Q651Q	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	651					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				0		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)		GACCTAAGCAATTGTTTAGCC	0.423													G	79734457	A	G	79734457	2	3	273	1	0	0	0	0	0	0	0	1	17661	98	4	3		3	ZFYVE16	5	79734457	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	706203	79734457	101180803	496	137793											
VCAN	1462	broad.mit.edu	37	chr5	82815503	82815503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaattaaggaagaagtgCtccagagtacaactggcgtc	11	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:82815503C>T	uc003kii.3	+	7	1734	c.1378C>T	c.(1378-1380)CTC>TTC	p.L460F	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L460F|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	460	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			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		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)		GGAAGAAGTGCTCCAGAGTAC	0.438													T	82815503	C	T	82815503	3	4	273	1	0	0	0	0	1	0	0	0	17135	797	28	2	1400	2	VCAN	5	82815503	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3081046	82815503	98099757	497	137794											
EDIL3	10085	broad.mit.edu	37	chr5	83360607	83360608	+	Frame_Shift_Ins	INS	-	-	G													ttacatactgagcttttatgINSgggggtgtgaaagagttagc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:83360606_83360607T>TG	uc003kio.1	-	7	1283_1284	c.864_865A>CA	c.(862-867)cccatafs	p.P288fs	EDIL3_uc003kip.1_Frame_Shift_Ins_p.P278fs|EDIL3_uc011ctt.1_Frame_Shift_Ins_p.P65fs	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	288	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAGCTTTTATGGGGGGTGTGA	0.391													G	83360608	-	G	83360607	7	5	273	1	0	1	1	0	0	0	0	0	4915	1335	47	0	594	0	EDIL3	5	83360607	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	545104	83360607	97554653	498	137795											
CETN3	1070	broad.mit.edu	37	chr5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-													agaatcttcagtacatcagcTttttttacatcaaaccccaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:89701580_89701580CT>C	uc003kjo.3	-	2	315	c.190_190AG>G	c.(190-192)gctfs	p.A64fs		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	64	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGTACATCAGCTTTTTTTACA	0.313													-	89701581	T	-	89701581	7	5	273	1	0	1	0	1	0	0	0	0	3276	1606	56	0	326	0	CETN3	5	89701581	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	6340974	89701581	91213679	499	137796											
GPR98	84059	broad.mit.edu	37	chr5	90087050	90087050	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatgtggctgttgggcttCgaatatcatcggatcataaa	12	6	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:90087050C>T	uc003kju.2	+	70	14500	c.14404C>T	c.(14404-14406)CGA>TGA	p.R4802*	GPR98_uc003kjt.2_Nonsense_Mutation_p.R2508*|GPR98_uc003kjw.2_Nonsense_Mutation_p.R463*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4802	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TGTTGGGCTTCGAATATCATC	0.463													T	90087050	C	T	90087050	4	4	273	1	0	0	0	0	0	1	0	0	6721	876	31	1	14682	1	GPR98	5	90087050	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	385469	90087050	90828210	500	137797											
GPR98	84059	broad.mit.edu	37	chr5	90106235	90106235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcgccaagccactggAagattttgagcctgttcaga	12	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:90106235A>G	uc003kju.2	+	74	15254	c.15158A>G	c.(15157-15159)GAA>GGA	p.E5053G	GPR98_uc003kjt.2_Missense_Mutation_p.E2759G|GPR98_uc003kjw.2_Missense_Mutation_p.E714G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5053	Calx-beta 33.|Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		AAGCCACTGGAAGATTTTGAG	0.373													G	90106235	A	G	90106235	3	3	273	1	0	0	0	0	1	0	0	0	6721	246	9	3	15452	3	GPR98	5	90106235	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	19185	90106235	90809025	501	137798											
MCTP1	79772	broad.mit.edu	37	chr5	94253672	94253672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggaagagctggcctgcCgcacgtctggatggaaatga	15	9	1	2	rs145487587		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:94253672C>T	uc003kkx.2	-	8	1279	c.1279G>A	c.(1279-1281)GGC>AGC	p.G427S	MCTP1_uc003kkv.2_Missense_Mutation_p.G206S|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Missense_Mutation_p.G88S|MCTP1_uc003kku.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	427					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		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)		GCTGGCCTGCCGCACGTCTGG	0.433													T	94253672	C	T	94253672	3	4	273	1	0	0	0	0	1	0	0	0	9400	652	23	1	1784	1	MCTP1	5	94253672	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4147437	94253672	86661588	502	137799											
MCTP1	79772	broad.mit.edu	37	chr5	94620067	94620067	+	Frame_Shift_Del	DEL	C	C	-													cacctgctgcctgcaccactCcccctggccggtgcattccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:94620067delC	uc003kkx.2	-	1	213	c.213delG	c.(211-213)GGGfs	p.G71fs		NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	71					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		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)		CTGCACCACTCCCCCTGGCCG	0.647													-	94620067	C	-	94620067	7	5	273	1	0	1	0	1	0	0	0	0	9400	842	30	0	2939	0	MCTP1	5	94620067	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	366395	94620067	86295193	503	137800											
ARSK	153642	broad.mit.edu	37	chr5	94901771	94901771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcaactttatgaagacaCgtgggacttcctttctgaat	7	8	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:94901771C>T	uc003kld.2	+	2	354	c.196C>T	c.(196-198)CGT>TGT	p.R66C	ARSK_uc010jbg.2_Translation_Start_Site|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	66						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		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)		TATGAAGACACGTGGGACTTC	0.388													T	94901771	C	T	94901771	3	4	273	1	0	0	0	0	1	0	0	0	996	536	19	1	202	1	ARSK	5	94901771	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	281704	94901771	86013489	504	137801											
SPATA9	83890	broad.mit.edu	37	chr5	95011302	95011302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcttagctaaagcaatAgccatcctgattttggatgt	7	7	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:95011302A>G	uc003klj.1	-	3	348	c.192T>C	c.(190-192)GCT>GCC	p.A64A	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	64					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		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)		CTAAAGCAATAGCCATCCTGA	0.383													G	95011302	A	G	95011302	2	3	273	1	0	0	0	0	0	0	0	1	15015	407	15	3		3	SPATA9	5	95011302	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	109531	95011302	85903958	505	137802											
CAST	831	broad.mit.edu	37	chr5	96065370	96065370	+	Frame_Shift_Del	DEL	A	A	-													gaagtaacgatgctcacaatAaaaaagcagtttccagatca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:96065369_96065369TA>T	uc011cuo.1	+	6	462	c.378_378TA>T	c.(376-378)aatfs	p.N126fs	CAST_uc003klt.3_Frame_Shift_Del_p.N80fs|CAST_uc021ybr.1_Frame_Shift_Del_p.N141fs|CAST_uc003klx.3_Frame_Shift_Del_p.N122fs|CAST_uc003klz.1_Frame_Shift_Del_p.N80fs|CAST_uc011cup.2_Frame_Shift_Del_p.N58fs|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Frame_Shift_Del_p.N80fs|CAST_uc021ybt.1_Frame_Shift_Del_p.N58fs|CAST_uc011cut.2_Frame_Shift_Del_p.N58fs|CAST_uc011cur.2_Frame_Shift_Del_p.N66fs|CAST_uc011cus.2_Frame_Shift_Del_p.N80fs|CAST_uc003kma.2_Frame_Shift_Del_p.N39fs|CAST_uc003kmd.3_Frame_Shift_Del_p.N58fs	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	80							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ATGCTCACAATAAAAAAGCAG	0.408													-	96065370	A	-	96065370	7	5	273	1	0	1	0	1	0	0	0	0	2684	363	13	0	520	0	CAST	5	96065370	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	1054068	96065370	84849890	506	137803											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834487	101834487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccgcgcggcctccagcGgctctactccccttgagact	12	18	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:101834487G>A	uc003knn.2	-	1	234	c.62C>T	c.(61-63)CCG>CTG	p.P21L	SLCO6A1_uc003kno.2_Missense_Mutation_p.P21L|SLCO6A1_uc003knp.2_Missense_Mutation_p.P21L|SLCO6A1_uc003knq.2_Missense_Mutation_p.P21L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	21	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		GGCCTCCAGCGGCTCTACTCC	0.657													A	101834487	G	A	101834487	3	1	273	1	0	0	0	0	1	0	0	0	14732	1116	39	1	2149	1	SLCO6A1	5	101834487	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5769117	101834487	79080773	507	137804											
PPIP5K2	23262	broad.mit.edu	37	chr5	102465389	102465389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatgcagatgaagacgaTgaggaggaagatgattctgt	13	6	1	6			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:102465389T>C	uc003kod.3	+	2	615	c.96T>C	c.(94-96)GAT>GAC	p.D32D	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.D32D|PPIP5K2_uc010jbo.1_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	32					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			ovary(1)|skin(1)	2						ATGAAGACGATGAGGAGGAAG	0.373													C	102465389	T	C	102465389	2	2	273	1	0	0	0	0	0	0	0	1	12333	1461	51	3		3	PPIP5K2	5	102465389	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	630902	102465389	78449871	508	137805											
FER	2241	broad.mit.edu	37	chr5	108290522	108290522	+	Frame_Shift_Del	DEL	A	A	-													atagaagctcaagaactgttAaaaaaacaaggagacttttt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:108290522delA	uc003kop.1	+	12	1806	c.1422delA	c.(1420-1422)TTAfs	p.L474fs	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Frame_Shift_Del_p.L299fs	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	474	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		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)		AAGAACTGTTAAAAAAACAAG	0.408													-	108290522	A	-	108290522	7	5	273	1	0	1	0	1	0	0	0	0	5813	359	13	0	1460	0	FER	5	108290522	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	5825133	108290522	72624738	509	137806											
FER	2241	broad.mit.edu	37	chr5	108295005	108295005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatacaacaaaacaggtcaTcactaagaaatcaggtgtag	7	8	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:108295005T>C	uc003kop.1	+	13	1997	c.1613T>C	c.(1612-1614)ATC>ACC	p.I538T	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.I363T	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	538	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		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)		AAACAGGTCATCACTAAGAAA	0.353													C	108295005	T	C	108295005	3	2	273	1	0	0	0	0	1	0	0	0	5813	1435	50	3	1655	3	FER	5	108295005	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4483	108295005	72620255	510	137807											
KCNN2	3781	broad.mit.edu	37	chr5	113698500	113698500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtacaacgggggcGtcatgcggccgctcagcaac	15	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:113698500G>A	uc003kqo.2	+	1	485	c.28G>A	c.(28-30)GTC>ATC	p.V10I		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	10						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		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)		CAACGGGGGCGTCATGCGGCC	0.562													A	113698500	G	A	113698500	3	1	273	1	0	0	0	0	1	0	0	0	8079	1145	40	1	30	1	KCNN2	5	113698500	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5403495	113698500	67216760	511	137808											
FEM1C	56929	broad.mit.edu	37	chr5	114878823	114878823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatggccatcgaaacacGcagctcgaagaggagttgaa	11	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:114878823G>A	uc003krb.1	-	2	930	c.368C>T	c.(367-369)GCG>GTG	p.A123V		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	123	ANK 4.					cytoplasm				breast(2)|ovary(1)	3		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)		ATCGAAACACGCAGCTCGAAG	0.448													A	114878823	G	A	114878823	3	1	273	1	0	0	0	0	1	0	0	0	5811	1087	38	1	1493	1	FEM1C	5	114878823	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1180323	114878823	66036437	512	137809											
AQPEP	206338	broad.mit.edu	37	chr5	115323514	115323514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgttttgatttagatacGcatctgggcccggaaagatg	11	7	1	3	rs142239251		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:115323514G>A	uc003kro.2	+	4	1147	c.983G>A	c.(982-984)CGC>CAC	p.R328H	AQPEP_uc003krp.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	328	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						ATTTAGATACGCATCTGGGCC	0.418													A	115323514	G	A	115323514	3	1	273	1	0	0	0	0	1	0	0	0	834	1087	38	1	997	1	AQPEP	5	115323514	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	444691	115323514	65591746	513	137810											
FTMT	94033	broad.mit.edu	37	chr5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtctctgcgcccggtgCgctgctgcttcgcgctcccg	14	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:121187725C>T	uc003kss.2	+	1	76	c.67C>T	c.(67-69)CGC>TGC	p.R23C		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	23					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731													T	121187725	C	T	121187725	3	4	273	1	0	0	0	0	1	0	0	0	6085	768	27	1	69	1	FTMT	5	121187725	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5864211	121187725	59727535	514	137811											
FBN2	2201	broad.mit.edu	37	chr5	127597503	127597503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccgttgattttgcactcGtagcatgcttctggggacag	12	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:127597503G>A	uc003kuu.2	-	64	8728	c.8289C>T	c.(8287-8289)TAC>TAT	p.Y2763Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2763					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			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		TTTTGCACTCGTAGCATGCTT	0.473													A	127597503	G	A	127597503	2	1	273	1	0	0	0	0	0	0	0	1	5703	1140	40	1		1	FBN2	5	127597503	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6409778	127597503	53317757	515	137812											
SHROOM1	134549	broad.mit.edu	37	chr5	132160980	132160980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacccggagtccaggttcaTggagccttggggttgcgtct	16	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:132160980T>C	uc003kxx.2	-	4	1658	c.853A>G	c.(853-855)ATG>GTG	p.M285V	SHROOM1_uc003kxy.1_Missense_Mutation_p.M285V	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	285					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGGTTCATGGAGCCTTGG	0.637													C	132160980	T	C	132160980	3	2	273	1	0	0	0	0	1	0	0	0	14293	1464	51	3	1733	3	SHROOM1	5	132160980	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4563477	132160980	48754280	516	137813											
AFF4	27125	broad.mit.edu	37	chr5	132232258	132232258	+	Frame_Shift_Del	DEL	A	A	-													ggagagaacattcgttgccgAaaaaagctatcttcttcctc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:132232257_132232257GA>G	uc003kyd.3	-	10	2473	c.2065_2065TC>C	c.(2065-2067)cggfs	p.R689fs	AFF4_uc011cxk.2_Frame_Shift_Del_p.R367fs|AFF4_uc003kye.1_Frame_Shift_Del_p.R689fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	689					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)			ATTCGTTGCCGAAAAAAGCTA	0.468													-	132232258	A	-	132232258	7	5	273	1	0	1	0	1	0	0	0	0	359	243	9	0	1471	0	AFF4	5	132232258	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	71278	132232258	48683002	517	137814											
TCF7	6932	broad.mit.edu	37	chr5	133481935	133481935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaaaagaaatgcattcGgtacttacccggagaaggcc	12	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:133481935G>A	uc003kyt.2	+	10	1292	c.1096G>A	c.(1096-1098)GGT>AGT	p.G366S	TCF7_uc003kyv.2_3'UTR|TCF7_uc003kyw.2_Missense_Mutation_p.G251S|TCF7_uc003kyx.2_Missense_Mutation_p.G164S|TCF7_uc003kyy.2_Missense_Mutation_p.G251S|TCF7_uc003kyz.2_Missense_Mutation_p.R275Q|TCF7_uc003kza.2_3'UTR|TCF7_uc003kzb.2_Missense_Mutation_p.G180S|TCF7_uc010jdu.2_RNA	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	Error:Variant_position_missing_in_P36402_after_alignment					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				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAATGCATTCGGTACTTACCC	0.522											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	133481935	G	A	133481935	3	1	273	1	0	0	0	0	1	0	0	0	15693	1116	39	1	1303	1	TCF7	5	133481935	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1249677	133481935	47433325	518	137815											
PHF15	23338	broad.mit.edu	37	chr5	133871564	133871564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagatggaagagaagaggcGaaaatactccatcagcagtg	13	7	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:133871564G>A	uc003kzo.1	+	2	196	c.17G>A	c.(16-18)CGA>CAA	p.R6Q	PHF15_uc011cxt.1_Missense_Mutation_p.R6Q|PHF15_uc003kzk.2_Missense_Mutation_p.R22Q|PHF15_uc003kzl.2_Missense_Mutation_p.R6Q|PHF15_uc003kzm.2_Missense_Mutation_p.R6Q|PHF15_uc003kzn.2_Missense_Mutation_p.R6Q	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	6					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGAAGAGGCGAAAATACTCC	0.488													A	133871564	G	A	133871564	3	1	273	1	0	0	0	0	1	0	0	0	11826	1058	37	1	19	1	PHF15	5	133871564	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	389629	133871564	47043696	519	137816											
C5orf24	134553	broad.mit.edu	37	chr5	134190673	134190673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaagatgccatgagagCtgctgatcagtttgacatat	10	7	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:134190673C>T	uc003kzx.2	+	2	144	c.83C>T	c.(82-84)GCT>GTT	p.A28V	C5orf24_uc003kzy.3_Missense_Mutation_p.A28V|C5orf24_uc003kzz.2_Missense_Mutation_p.A28V	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	hypothetical protein LOC134553	28											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCATGAGAGCTGCTGATCAG	0.443													T	134190673	C	T	134190673	3	4	273	1	0	0	0	0	1	0	0	0	2287	797	28	2	85	2	C5orf24	5	134190673	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	319109	134190673	46724587	520	137817											
CATSPER3	347732	broad.mit.edu	37	chr5	134343728	134343728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcatgtacatcttcGctatcttgggcttctgcctg	7	14	4	0	rs145171708		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:134343728G>A	uc003lag.2	+	4	642	c.574G>A	c.(574-576)GCT>ACT	p.A192T		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	192	Helical; Name=Segment S5; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTACATCTTCGCTATCTTGGG	0.562													A	134343728	G	A	134343728	3	1	273	1	0	0	0	0	1	0	0	0	2689	1087	38	1	588	1	CATSPER3	5	134343728	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	153055	134343728	46571532	521	137818											
CXCL14	9547	broad.mit.edu	37	chr5	134910282	134910282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttctcgttccaggcGttgtaccacttgatgaagcg	11	12	1	2	rs150851659		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:134910282G>A	uc003lay.2	-	3	765	c.300C>T	c.(298-300)AAC>AAT	p.N100N		NM_004887	NP_004878	O95715	CXL14_HUMAN	small inducible cytokine B14 precursor	100					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTTCCAGGCGTTGTACCACT	0.512													A	134910282	G	A	134910282	2	1	273	1	0	0	0	0	0	0	0	1	4082	1136	40	1		1	CXCL14	5	134910282	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	566554	134910282	46004978	522	137819											
SPOCK1	6695	broad.mit.edu	37	chr5	136403466	136403466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagggacagggcccatcaCagagggtggcgaggcttttg	17	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:136403466C>T	uc003lbo.2	-	5	718	c.527G>A	c.(526-528)TGT>TAT	p.C176Y	SPOCK1_uc003lbp.2_Missense_Mutation_p.C176Y	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	176	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCCATCACAGAGGGTGGC	0.522													T	136403466	C	T	136403466	3	4	273	1	0	0	0	0	1	0	0	0	15078	478	17	4	816	4	SPOCK1	5	136403466	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1493184	136403466	44511794	523	137820											
EGR1	1958	broad.mit.edu	37	chr5	137802677	137802682	+	In_Frame_Del	DEL	CCTCCG	CCTCCG	-													agcaccatctccagcggcctCctccgcctccgcctcccaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:137802676_137802681TCCTCCG>T	uc003ldb.1	+	1	808_813	c.538_543TCCTCCG>T	c.(538-543)tcctcc>T	p.SS180del		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	180					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)			TCCAGCGGCCTCCTCCGCCTCCGCCT	0.65													-	137802682	CCTCCG	-	137802677	7	5	273	1	0	1	0	1	0	0	0	0	4971	855	30	0	545	0	EGR1	5	137802677	In_Frame_Del	DEL	CCTCCG	TCGA-HU-A4GT-01A-21D-A25D-08	1399211	137802677	43112583	524	137821											
PSD2	84249	broad.mit.edu	37	chr5	139193288	139193288	+	Frame_Shift_Del	DEL	G	G	-													aagatggccctcagggcccaGggggggatgaggatgatgat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139193288delG	uc003leu.1	+	3	971	c.766delG	c.(766-768)GGGfs	p.G256fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGGCCCAGGGGGGGATGA	0.587													-	139193288	G	-	139193288	7	5	273	1	0	1	0	1	0	0	0	0	12647	1000	35	0	772	0	PSD2	5	139193288	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1390611	139193288	41721972	525	137822											
NRG2	9542	broad.mit.edu	37	chr5	139260471	139260471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagccggccccggacggTgtccttccccaggatgttct	12	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139260471T>C	uc003lex.1	-	3	1186	c.961A>G	c.(961-963)ACC>GCC	p.T321A	NRG2_uc003lev.1_Missense_Mutation_p.T321A|NRG2_uc003lew.1_Missense_Mutation_p.T321A|NRG2_uc003ley.1_Missense_Mutation_p.T321A	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	321	Ig-like C2-type.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGGACGGTGTCCTTCCCC	0.627													C	139260471	T	C	139260471	3	2	273	1	0	0	0	0	1	0	0	0	10648	1696	59	3	1714	3	NRG2	5	139260471	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	67183	139260471	41654789	526	137823											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139864752	139864752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatgatcatacagtagtGtcgctggcatgtgcaggagg	13	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139864752G>A	uc003lfs.1	+	12	2041	c.1917G>A	c.(1915-1917)GTG>GTA	p.V639V	ANKHD1_uc003lfq.1_Silent_p.V658V|ANKHD1_uc003lfr.2_Silent_p.V639V|ANKHD1_uc003lft.1_Silent_p.V119V|ANKHD1_uc003lfu.1_Silent_p.V119V|ANKHD1_uc003lfv.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	639						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACAGTAGTGTCGCTGGCAT	0.443													A	139864752	G	A	139864752	2	1	273	1	0	0	0	0	0	0	0	1	629	1364	48	4		4	ANKHD1-EIF4EBP3	5	139864752	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	604281	139864752	41050508	527	137824											
APBB3	10307	broad.mit.edu	37	chr5	139941182	139941182	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacacttacctgggcacaaAgcccatgtagggcactggca	11	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139941182A>C	uc003lgd.1	-	7	1111	c.752T>G	c.(751-753)CTT>CGT	p.L251R	APBB3_uc003lgb.1_Missense_Mutation_p.L23R|APBB3_uc003lgc.1_Missense_Mutation_p.L23R|APBB3_uc003lge.1_Missense_Mutation_p.L244R|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.L23R|APBB3_uc010jfq.1_Missense_Mutation_p.L23R	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	246	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCACAAAGCCCATGTAG	0.532													C	139941182	A	C	139941182	3	2	273	1	0	0	0	0	1	0	0	0	762	72	3	5	747	5	APBB3	5	139941182	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	76430	139941182	40974078	528	137825											
PCDHA1	56147	broad.mit.edu	37	chr5	140167265	140167265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgagtacacagtattcGtgaaggagaacaacccgccg	11	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140167265G>A	uc003lhb.2	+	1	1390	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M	PCDHA1_uc003lha.2_Missense_Mutation_p.V464M|PCDHA1_uc003lgz.2_Missense_Mutation_p.V464M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	464	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGTATTCGTGAAGGAGAA	0.662													A	140167265	G	A	140167265	3	1	273	1	0	0	0	0	1	0	0	0	11519	1145	40	1	1392	1	PCDHA1	5	140167265	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	226083	140167265	40747995	529	137826											
PCDHA1	56147	broad.mit.edu	37	chr5	140167382	140167382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggcgggtgggcgagcgcGcgctgtcgaactacgtgtca	17	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140167382G>A	uc003lhb.2	+	1	1507	c.1507G>A	c.(1507-1509)GCG>ACG	p.A503T	PCDHA1_uc003lha.2_Missense_Mutation_p.A503T|PCDHA1_uc003lgz.2_Missense_Mutation_p.A503T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCGCGCTGTCGAA	0.677													A	140167382	G	A	140167382	3	1	273	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1509	1	PCDHA1	5	140167382	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	117	140167382	40747878	530	137827											
PCDHA5	56143	broad.mit.edu	37	chr5	140201490	140201490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccaaacacggaaccttcGttggccgcatcgcgcaggac	11	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140201490G>A	uc003lhl.2	+	1	130	c.130G>A	c.(130-132)GTT>ATT	p.V44I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V44I|PCDHA5_uc003lhj.1_Missense_Mutation_p.V44I	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	44	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAACCTTCGTTGGCCGCAT	0.662													A	140201490	G	A	140201490	3	1	273	1	0	0	0	0	1	0	0	0	11527	1145	40	1	132	1	PCDHA5	5	140201490	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	34108	140201490	40713770	531	137828											
PCDHA5	56143	broad.mit.edu	37	chr5	140202694	140202694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgtctgtggaagtggCcgacgtgaacgacaacgctc	14	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140202694C>T	uc003lhl.2	+	1	1334	c.1334C>T	c.(1333-1335)GCC>GTC	p.A445V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A445V|PCDHA5_uc003lhj.1_Missense_Mutation_p.A445V	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	445	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAGTGGCCGACGTGAAC	0.657													T	140202694	C	T	140202694	3	4	273	1	0	0	0	0	1	0	0	0	11527	739	26	2	1336	2	PCDHA5	5	140202694	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1204	140202694	40712566	532	137829											
PCDHA6	56142	broad.mit.edu	37	chr5	140208963	140208963	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggtaaccgcgcgggaCgggggctcgccttcgctgtg	18	11	0	0	rs142490526		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140208963C>T	uc003lho.2	+	1	1314	c.1287C>T	c.(1285-1287)GAC>GAT	p.D429D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.D429D|PCDHA6_uc011dab.1_Silent_p.D429D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	429	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGGGACGGGGGCTCGC	0.622													T	140208963	C	T	140208963	2	4	273	1	0	0	0	0	0	0	0	1	11528	535	19	1		1	PCDHA6	5	140208963	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6269	140208963	40706297	533	137830											
PCDHA8	56140	broad.mit.edu	37	chr5	140222198	140222198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaaccgcgcgggacggggGctcgccttcgctgtgggcca	18	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140222198G>A	uc003lhs.2	+	1	1292	c.1292G>A	c.(1291-1293)GGC>GAC	p.G431D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.G431D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	431	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGGGGGCTCGCCTTCG	0.637													A	140222198	G	A	140222198	3	1	273	1	0	0	0	0	1	0	0	0	11530	1203	42	2	1294	2	PCDHA8	5	140222198	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	13235	140222198	40693062	534	137831											
PCDHA9	9752	broad.mit.edu	37	chr5	140230226	140230226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgttggttctcacgctgCtgctgtacactgtgctgcgg	13	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140230226C>T	uc003lhu.2	+	1	2870	c.2146C>T	c.(2146-2148)CTG>TTG	p.L716L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.L716L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	716	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCACGCTGCTGCTGTACAC	0.652													T	140230226	C	T	140230226	2	4	273	1	0	0	0	0	0	0	0	1	11531	796	28	2		2	PCDHA9	5	140230226	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	8028	140230226	40685034	535	137832											
PCDHA11	56138	broad.mit.edu	37	chr5	140249805	140249805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcattgccctgatcagcGtgtctgaccgtgactcaggt	12	12	4	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140249805G>A	uc003lia.2	+	1	1975	c.1117G>A	c.(1117-1119)GTG>ATG	p.V373M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V373M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	373	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCAGCGTGTCTGACCG	0.567													A	140249805	G	A	140249805	3	1	273	1	0	0	0	0	1	0	0	0	11521	1145	40	1	1119	1	PCDHA11	5	140249805	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	19579	140249805	40665455	536	137833											
PCDHA11	56138	broad.mit.edu	37	chr5	140250611	140250611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggacgaggcagactcGccgcgccaccgacttctagt	12	16	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140250611G>A	uc003lia.2	+	1	2781	c.1923G>A	c.(1921-1923)TCG>TCA	p.S641S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S641S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	641	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAGACTCGCCGCGCCACC	0.682													A	140250611	G	A	140250611	2	1	273	1	0	0	0	0	0	0	0	1	11521	1074	38	1		1	PCDHA11	5	140250611	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	806	140250611	40664649	537	137834											
PCDHA12	56137	broad.mit.edu	37	chr5	140257063	140257063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacggtgctggtgtcgcTggtggagaacggccaggccc	18	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140257063T>C	uc003lic.2	+	1	2133	c.2006T>C	c.(2005-2007)CTG>CCG	p.L669P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L669P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	669	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTCGCTGGTGGAGAAC	0.662													C	140257063	T	C	140257063	3	2	273	1	0	0	0	0	1	0	0	0	11522	1580	55	3	2008	3	PCDHA12	5	140257063	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6452	140257063	40658197	538	137835											
PCDHA13	56136	broad.mit.edu	37	chr5	140263628	140263628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcaggccacgtggtggCgaaggtgcgcgcggtggacg	22	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140263628C>T	uc003lif.2	+	1	1775	c.1775C>T	c.(1774-1776)GCG>GTG	p.A592V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A592V|PCDHA13_uc003lid.2_Missense_Mutation_p.A592V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	592	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGTGGTGGCGAAGGTGCGC	0.706													T	140263628	C	T	140263628	3	4	273	1	0	0	0	0	1	0	0	0	11523	768	27	1	1777	1	PCDHA13	5	140263628	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6565	140263628	40651632	539	137836											
PCDHB2	56133	broad.mit.edu	37	chr5	140474401	140474401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggagaggggaaggagcgCgttccgaaacaaaggcaagt	17	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140474401C>T	uc003lil.2	+	1	165	c.27C>T	c.(25-27)CGC>CGT	p.R9R	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	9					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGGAGCGCGTTCCGAAAC	0.542													T	140474401	C	T	140474401	2	4	273	1	0	0	0	0	0	0	0	1	11542	755	27	1		1	PCDHB2	5	140474401	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	210773	140474401	40440859	540	137837											
PCDHB6	56130	broad.mit.edu	37	chr5	140531688	140531688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctgttcggcgtgtgggCgcacaatggcgaggtgcgca	18	10	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140531688C>T	uc003lir.2	+	1	1850	c.1850C>T	c.(1849-1851)GCG>GTG	p.A617V	PCDHB6_uc011dah.1_Missense_Mutation_p.A481V	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	617	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGTGTGGGCGCACAATGGC	0.677													T	140531688	C	T	140531688	3	4	273	1	0	0	0	0	1	0	0	0	11546	768	27	1	1852	1	PCDHB6	5	140531688	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	57287	140531688	40383572	541	137838											
PCDHB8	56128	broad.mit.edu	37	chr5	140558574	140558574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcctatgaagtcaataTcgaggcgagagatgctggag	13	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140558574T>C	uc011dai.1	+	1	1145	c.959T>C	c.(958-960)ATC>ACC	p.I320T	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	320	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTCAATATCGAGGCGAGA	0.398													C	140558574	T	C	140558574	3	2	273	1	0	0	0	0	1	0	0	0	11548	1435	50	3	961	3	PCDHB8	5	140558574	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	26886	140558574	40356686	542	137839											
PCDHB12	56124	broad.mit.edu	37	chr5	140590002	140590002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggtctccatcaacgCggacaacggccacctgtttg	9	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140590002C>T	uc003liz.2	+	1	1712	c.1523C>T	c.(1522-1524)GCG>GTG	p.A508V	PCDHB12_uc011dak.1_Missense_Mutation_p.A171V	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	508	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATCAACGCGGACAACGGC	0.677													T	140590002	C	T	140590002	3	4	273	1	0	0	0	0	1	0	0	0	11537	768	27	1	1525	1	PCDHB12	5	140590002	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	31428	140590002	40325258	543	137840											
PCDHB14	56122	broad.mit.edu	37	chr5	140604218	140604218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actctggagacaatgggaggAtgatttgctctattcaagat	11	6	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140604218A>C	uc003ljb.2	+	1	1141	c.1141A>C	c.(1141-1143)ATG>CTG	p.M381L	PCDHB14_uc011dal.1_Missense_Mutation_p.M228L	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	381	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGGGAGGATGATTTGCTC	0.423													C	140604218	A	C	140604218	3	2	273	1	0	0	0	0	1	0	0	0	11539	333	12	5	1143	5	PCDHB14	5	140604218	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	14216	140604218	40311042	544	137841											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710353	140710353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaatattcactactcAgtgccggaagagacagacaa	11	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140710353A>G	uc003lji.1	+	1	102	c.102A>G	c.(100-102)TCA>TCG	p.S34S	PCDHGA1_uc011dan.1_Silent_p.S34S	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	34	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACTACTCAGTGCCGGAAG	0.547													G	140710353	A	G	140710353	2	3	273	1	0	0	0	0	0	0	0	1	11550	175	7	3		3	PCDHGA1	5	140710353	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	106135	140710353	40204907	545	137842											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720953	140720953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaagagaagaaacGttttctcaggtaatctatct	9	5	3	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140720953G>A	uc003ljk.1	+	1	2600	c.2415G>A	c.(2413-2415)ACG>ACA	p.T805T	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.T805T|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	805	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGAAACGTTTTCTCAGG	0.388													A	140720953	G	A	140720953	2	1	273	1	0	0	0	0	0	0	0	1	11554	1132	40	1		1	PCDHGA2	5	140720953	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	10600	140720953	40194307	546	137843											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723665	140723665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcgcgctcctggggaCgctgtgcgaaacaggatccg	16	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140723665C>T	uc003ljm.1	+	1	65	c.65C>T	c.(64-66)ACG>ATG	p.T22M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Translation_Start_Site|PCDHGA3_uc011dap.1_Missense_Mutation_p.T22M	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGGGACGCTGTGCGAA	0.547											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140723665	C	T	140723665	3	4	273	1	0	0	0	0	1	0	0	0	11555	536	19	1	67	1	PCDHGA3	5	140723665	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2712	140723665	40191595	547	137844											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725690	140725690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacctggtggtggcggTggccgcggtctcctgcgtct	16	12	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140725690T>C	uc003ljm.1	+	1	2090	c.2090T>C	c.(2089-2091)GTG>GCG	p.V697A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.V457A|PCDHGA3_uc011dap.1_Missense_Mutation_p.V697A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	697	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGCGGTGGCCGCGGTC	0.682													C	140725690	T	C	140725690	3	2	273	1	0	0	0	0	1	0	0	0	11555	1696	59	3	2092	3	PCDHGA3	5	140725690	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2025	140725690	40189570	548	137845											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725741	140725741	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcgtgctgctggcgcTcaggctgcggcgctggcaca	15	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140725741T>A	uc003ljm.1	+	1	2141	c.2141T>A	c.(2140-2142)CTC>CAC	p.L714H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L474H|PCDHGA3_uc011dap.1_Missense_Mutation_p.L714H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	714	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGGCGCTCAGGCTGCGG	0.682													A	140725741	T	A	140725741	3	1	273	1	0	0	0	0	1	0	0	0	11555	1551	54	5	2143	5	PCDHGA3	5	140725741	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	51	140725741	40189519	549	137846											
PCDHGB1	56104	broad.mit.edu	37	chr5	140731334	140731334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttgtcctacgtgtccGtgagcccgcagagcggggtg	16	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140731334G>A	uc003ljo.1	+	1	1507	c.1507G>A	c.(1507-1509)GTG>ATG	p.V503M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.V503M	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	503	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTGTCCGTGAGCCCGCA	0.667													A	140731334	G	A	140731334	3	1	273	1	0	0	0	0	1	0	0	0	11562	1145	40	1	1509	1	PCDHGB1	5	140731334	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5593	140731334	40183926	550	137847											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779085	140779085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccgaaaacaaccctcctgGggcctccatcgcgcaagtct	8	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140779085G>T	uc003lkf.1	+	1	1391	c.1391G>T	c.(1390-1392)GGG>GTG	p.G464V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G464V	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	464	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCTCCTGGGGCCTCCATC	0.562													T	140779085	G	T	140779085	3	4	273	1	0	0	0	0	1	0	0	0	11566	1232	43	5	1393	5	PCDHGB5	5	140779085	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	47751	140779085	40136175	551	137848											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801232	140801232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagataaaagtcagtgagcaCgcaattcctggggcgcgatt	13	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140801232C>T	uc003lkq.1	+	1	696	c.438C>T	c.(436-438)CAC>CAT	p.H146H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.H146H|PCDHGA11_uc003lkp.1_Silent_p.H146H	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	146	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGAGCACGCAATTCCTG	0.478													T	140801232	C	T	140801232	2	4	273	1	0	0	0	0	0	0	0	1	11552	535	19	1		1	PCDHGA11	5	140801232	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	22147	140801232	40114028	552	137849											
GNPDA1	10007	broad.mit.edu	37	chr5	141384602	141384602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccaggatggtatccatGgccagcgtcttcacacgggt	13	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:141384602G>A	uc003lmf.3	-	4	1248	c.489C>T	c.(487-489)GCC>GCT	p.A163A	GNPDA1_uc003lmg.3_Silent_p.A163A|GNPDA1_uc010jgh.2_Silent_p.A163A|GNPDA1_uc003lmh.3_Silent_p.A129A	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	163					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTATCCATGGCCAGCGTCT	0.592													A	141384602	G	A	141384602	2	1	273	1	0	0	0	0	0	0	0	1	6542	1335	47	4		4	GNPDA1	5	141384602	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	583370	141384602	39530658	553	137850											
FBXO38	81545	broad.mit.edu	37	chr5	147821616	147821616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaaatttcagagatgcGtcagatgaagaagggtgtat	14	3	2	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:147821616G>A	uc003lpf.1	+	22	3593	c.3473G>A	c.(3472-3474)CGT>CAT	p.R1158H	FBXO38_uc003lpg.1_Missense_Mutation_p.R1083H|FBXO38_uc003lph.2_Missense_Mutation_p.R913H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	1158						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGATGCGTCAGATGAAG	0.398													A	147821616	G	A	147821616	3	1	273	1	0	0	0	0	1	0	0	0	5746	1145	40	1	3555	1	FBXO38	5	147821616	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6437014	147821616	33093644	554	137851											
GPX3	2878	broad.mit.edu	37	chr5	150407589	150407589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggggccagatggtatAcccatcatgcgctggcacca	13	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:150407589A>G	uc011dcm.1	+	6	796	c.579A>G	c.(577-579)ATA>ATG	p.I193M	GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	NM_002084	NP_002075	P22352	GPX3_HUMAN	glutathione peroxidase 3 precursor	193					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAGATGGTATACCCATCATGC	0.587													G	150407589	A	G	150407589	3	3	273	1	0	0	0	0	1	0	0	0	6741	381	14	3	597	3	GPX3	5	150407589	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2585973	150407589	30507671	555	137852											
SLC36A1	206358	broad.mit.edu	37	chr5	150847485	150847485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctaccagttcattgttcAggtacatgcctaggccctct	8	12	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:150847485A>G	uc003luc.2	+	7	939	c.722A>G	c.(721-723)CAG>CGG	p.Q241R	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.Q241R|SLC36A1_uc010jhw.1_Missense_Mutation_p.Q241R	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	241	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TTCATTGTTCAGGTACATGCC	0.348													G	150847485	A	G	150847485	3	3	273	1	0	0	0	0	1	0	0	0	14593	202	7	3	744	3	SLC36A1	5	150847485	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	439896	150847485	30067775	556	137853											
SLC36A1	206358	broad.mit.edu	37	chr5	150859003	150859003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcgcccgagcactgtgAgttagtggtggacctgtttg	15	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:150859003A>G	uc003luc.2	+	10	1329	c.1112A>G	c.(1111-1113)GAG>GGG	p.E371G	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.E371G|SLC36A1_uc010jhw.1_Missense_Mutation_p.E371G	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	371	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GAGCACTGTGAGTTAGTGGTG	0.522													G	150859003	A	G	150859003	3	3	273	1	0	0	0	0	1	0	0	0	14593	304	11	3	1146	3	SLC36A1	5	150859003	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	11518	150859003	30056257	557	137854											
HAND1	9421	broad.mit.edu	37	chr5	153857481	153857481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacagcgcgaggccggacCgaagaggaagggttcgtgga	18	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:153857481C>T	uc003lvn.2	-	1	344	c.88G>A	c.(88-90)GGT>AGT	p.G30S		NM_004821	NP_004812	O96004	HAND1_HUMAN	basic helix-loop-helix transcription factor	30					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				0	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)			GAGGCCGGACCGAAGAGGAAG	0.592													T	153857481	C	T	153857481	3	4	273	1	0	0	0	0	1	0	0	0	6949	652	23	1	567	1	HAND1	5	153857481	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2998478	153857481	27057779	558	137855											
GABRA1	2554	broad.mit.edu	37	chr5	161318019	161318019	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcacaagtctccttctgGctcaacagagagtctgtacc	7	14	5	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:161318019G>A	uc010jiw.2	+	9	1287	c.819G>A	c.(817-819)TGG>TGA	p.W273*	GABRA1_uc010jix.2_Nonsense_Mutation_p.W273*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.W273*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.W273*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.W273*|GABRA1_uc010jja.2_Nonsense_Mutation_p.W273*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.W273*	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	273	Helical; (Probable).				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			ovary(2)|pancreas(1)	3	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)	TCTCCTTCTGGCTCAACAGAG	0.413													A	161318019	G	A	161318019	4	1	273	1	0	0	0	0	0	1	0	0	6160	1212	42	2	845	2	GABRA1	5	161318019	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7460538	161318019	19597241	559	137856											
ODZ2	57451	broad.mit.edu	37	chr5	167545304	167545304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtttgtgcagctgcctgCcctgtcctgtgcagtgggaa	14	10	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:167545304C>T	uc010jjd.2	+	10	1821	c.1821C>T	c.(1819-1821)TGC>TGT	p.C607C	ODZ2_uc003lzq.2_Silent_p.C486C|ODZ2_uc003lzr.3_Silent_p.C375C|ODZ2_uc003lzt.3_5'UTR|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CAGCTGCCTGCCCTGTCCTGT	0.572													T	167545304	C	T	167545304	2	4	273	1	0	0	0	0	0	0	0	1	10835	747	26	2		2	ODZ2	5	167545304	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6227285	167545304	13369956	560	137857											
DOCK2	1794	broad.mit.edu	37	chr5	169267806	169267806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcatggtccagctgctgCggacagtgaaccggacagtc	13	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:169267806C>T	uc003maf.2	+	27	2829	c.2749C>T	c.(2749-2751)CGG>TGG	p.R917W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R409W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	917					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			ovary(5)|pancreas(2)	7	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)			CCAGCTGCTGCGGACAGTGAA	0.473													T	169267806	C	T	169267806	3	4	273	1	0	0	0	0	1	0	0	0	4687	759	27	1	2855	1	DOCK2	5	169267806	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1722502	169267806	11647454	561	137858											
C5orf41	153222	broad.mit.edu	37	chr5	172517887	172517887	+	Frame_Shift_Del	DEL	A	A	-													gttgaatgtaaagactatgtAaaaaaggcaaaggtaaagat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:172517887delA	uc003mch.2	+	4	1009	c.705delA	c.(703-705)GTAfs	p.V235fs	C5orf41_uc003mcg.2_Frame_Shift_Del_p.V235fs|C5orf41_uc003mcf.2_Frame_Shift_Del_p.V235fs|C5orf41_uc011dfd.1_Frame_Shift_Del_p.V235fs	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	235							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGACTATGTAAAAAAGGCAA	0.418													-	172517887	A	-	172517887	7	5	273	1	0	1	0	1	0	0	0	0	2300	349	13	0	715	0	C5orf41	5	172517887	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	3250081	172517887	8397373	562	137859											
UIMC1	51720	broad.mit.edu	37	chr5	176396164	176396164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgactggtcccagcttcctgAgctgccagagaccggctcct	11	15	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:176396164A>T	uc011dfp.1	-	6	759	c.592T>A	c.(592-594)TCA>ACA	p.S198T	UIMC1_uc003mfc.1_Missense_Mutation_p.S75T|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	198	Necessary for interaction with NR6A1 N- terminus.				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			ovary(3)|skin(1)	4	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)			CAGCTTCCTGAGCTGCCAGAG	0.512													T	176396164	A	T	176396164	3	4	273	1	0	0	0	0	1	0	0	0	16968	304	11	5	1607	5	UIMC1	5	176396164	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3878277	176396164	4519096	563	137860											
NSD1	64324	broad.mit.edu	37	chr5	176720831	176720831	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatttacttctgtgttttcAgggaaatgggaatgtccgtg	12	5	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:176720831A>G	uc003mfr.3	+	23	6602	c.6464_splice	c.e23-2	p.G2155_splice	NSD1_uc003mft.3_Splice_Site_p.G1886_splice|NSD1_uc011dfx.1_Splice_Site_p.G1803_splice	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						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			ovary(2)|kidney(1)	3	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)		CTGTGTTTTCAGGGAAATGGG	0.473			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			G	176720831	A	G	176720831	5	3	273	1	0	0	0	0	0	0	1	0	10669	202	7	3	6548	3	NSD1	5	176720831	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	324667	176720831	4194429	564	137861											
PROP1	5626	broad.mit.edu	37	chr5	177420032	177420032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccgttgcttagctctgCggttctggaaccagacctga	11	12	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:177420032C>T	uc003mif.1	-	3	668	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	120	Homeobox.		R -> C (in CPHD2; familial).		central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	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)			CTTAGCTCTGCGGTTCTGGAA	0.562													T	177420032	C	T	177420032	3	4	273	1	0	0	0	0	1	0	0	0	12557	768	27	1	325	1	PROP1	5	177420032	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	699201	177420032	3495228	565	137862											
NHP2	55651	broad.mit.edu	37	chr5	177580799	177580799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcgggcccgtcgggaTctgcctttattttggtcatc	12	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:177580799T>C	uc003mir.2	-	1	163	c.20A>G	c.(19-21)GAT>GGT	p.D7G	NHP2_uc003mis.2_Missense_Mutation_p.D7G	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	7					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						CCCGTCGGGATCTGCCTTTAT	0.642													C	177580799	T	C	177580799	3	2	273	1	0	0	0	0	1	0	0	0	10409	1435	50	3	457	3	NHP2	5	177580799	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	160767	177580799	3334461	566	137863											
ZNF354A	6940	broad.mit.edu	37	chr5	178139580	178139580	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caattataaaacttctctccAgtatgaatgattcggtgtct	6	8	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:178139580A>G	uc003mjj.2	-	5	1497	c.1299T>C	c.(1297-1299)ACT>ACC	p.T433T		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	433					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		ACTTCTCTCCAGTATGAATGA	0.368													G	178139580	A	G	178139580	2	3	273	1	0	0	0	0	0	0	0	1	17861	175	7	3		3	ZNF354A	5	178139580	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	558781	178139580	2775680	567	137864											
CANX	821	broad.mit.edu	37	chr5	179132741	179132741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaactgctattgttgaggCtcatgatggacatgatgatg	13	5	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:179132741C>T	uc003mkk.2	+	2	236	c.59C>T	c.(58-60)GCT>GTT	p.A20V	CANX_uc011dgp.1_Missense_Mutation_p.A55V|CANX_uc010jlb.1_Missense_Mutation_p.A20V|CANX_uc003mkl.2_Missense_Mutation_p.A20V|CANX_uc011dgq.1_5'UTR	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	20					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				0	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)	attgttgaggctcatgatgga	0.1													T	179132741	C	T	179132741	3	4	273	1	0	0	0	0	1	0	0	0	2618	797	28	2	61	2	CANX	5	179132741	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	993161	179132741	1782519	568	137865											
SQSTM1	8878	broad.mit.edu	37	chr5	179260239	179260239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccttggagtccgaggggcGccctgaggcaagcctgtgcc	16	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:179260239G>A	uc003mkw.3	+	6	1057	c.962G>A	c.(961-963)CGC>CAC	p.R321H	SQSTM1_uc011dgr.1_Missense_Mutation_p.R237H|SQSTM1_uc011dgs.1_Missense_Mutation_p.R237H|SQSTM1_uc003mkv.3_Intron|SQSTM1_uc003mkx.2_Missense_Mutation_p.R237H	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	321	Interaction with NTRK1 (By similarity).			R -> A (in Ref. 1; AAA93299).	anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGAGGGGCGCCCTGAGGCA	0.672									Paget_Disease_of_Bone				A	179260239	G	A	179260239	3	1	273	1	0	0	0	0	1	0	0	0	15129	1087	38	1	984	1	SQSTM1	5	179260239	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	127498	179260239	1655021	569	137866											
GFPT2	9945	broad.mit.edu	37	chr5	179762943	179762943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactccacttttaagtccatGctgtcttgttctaaatgaaa	5	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:179762943G>A	uc003mlw.1	-	4	323	c.225C>T	c.(223-225)AGC>AGT	p.S75S		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	75	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			ovary(1)|skin(1)	2	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)	TTAAGTCCATGCTGTCTTGTT	0.542													A	179762943	G	A	179762943	2	1	273	1	0	0	0	0	0	0	0	1	6346	1310	46	2		2	GFPT2	5	179762943	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	502704	179762943	1152317	570	137867											
IRF4	3662	broad.mit.edu	37	chr6	398884	398884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgagtcccaggctcccGgagtccccacagagccaagc	10	18	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:398884G>A	uc003msz.3	+	6	807	c.694G>A	c.(694-696)GGA>AGA	p.G232R	IRF4_uc010jne.1_Missense_Mutation_p.G232R|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.G231R|IRF4_uc003mtc.1_Missense_Mutation_p.G62R	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	232					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			ovary(1)	1		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)		CCAGGCTCCCGGAGTCCCCAC	0.562			T	IGH@	MM 								A	398884	G	A	398884	3	1	273	1	0	0	0	0	1	0	0	0	7832	1117	39	1	712	1	IRF4	6	398884	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		398884	170716183	571	137868											
MYLK4	340156	broad.mit.edu	37	chr6	2749454	2749454	+	Frame_Shift_Del	DEL	A	A	-													tccacctcttccctgcactgAaaaaaggccattttctccag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:2749453_2749453GA>G	uc003mty.4	-	1	373	c.76_76TC>C	c.(76-78)cagfs	p.Q26fs		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	26							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)				TCCCTGCACTGAAAAAAGGCC	0.398													-	2749454	A	-	2749454	7	5	273	1	0	1	0	1	0	0	0	0	10059	243	9	0	1135	0	MYLK4	6	2749454	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	2350570	2749454	168365613	572	137869											
SERPINB6	5269	broad.mit.edu	37	chr6	2953378	2953378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagaaccagccttgtcAatggatccactgagcccgga	9	14	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:2953378A>G	uc003muk.2	-	4	2468	c.473T>C	c.(472-474)TTG>TCG	p.L158S	SERPINB6_uc003mui.2_Missense_Mutation_p.L41S|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.L158S|SERPINB6_uc003mum.2_Missense_Mutation_p.L158S|SERPINB6_uc003mun.2_Missense_Mutation_p.L158S|SERPINB6_uc003muo.2_Missense_Mutation_p.L158S	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	158					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGCCTTGTCAATGGATCCAC	0.502											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	2953378	A	G	2953378	3	3	273	1	0	0	0	0	1	0	0	0	14105	131	5	3	669	3	SERPINB6	6	2953378	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	203924	2953378	168161689	573	137870											
TUBB2B	347733	broad.mit.edu	37	chr6	3225739	3225739	+	Frame_Shift_Del	DEL	T	T	-													tgcagtaggtttcatctgtgTtttccaccagctggtggacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:3225739delT	uc003mvg.2	-	4	775	c.584delA	c.(583-585)AACfs	p.N195fs	TUBB2B_uc010jnj.2_Frame_Shift_Del_p.N158fs|TUBB2B_uc010jnk.2_Frame_Shift_Del_p.N123fs|TUBB2B_uc003mvh.2_Frame_Shift_Del_p.N168fs|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	195					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTCATCTGTGTTTTCCACCAG	0.582													-	3225739	T	-	3225739	7	5	273	1	0	1	0	1	0	0	0	0	16752	1725	60	0	757	0	TUBB2B	6	3225739	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	272361	3225739	167889328	574	137871											
C6orf145	221749	broad.mit.edu	37	chr6	3727819	3727819	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccacgcccagctgctggtCtcttccatttggtatactgt	9	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:3727819C>A	uc003mvt.2	-	4	1025	c.544G>T	c.(544-546)GAC>TAC	p.D182Y		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	hypothetical protein LOC221749	182					cell communication		phosphatidylinositol binding			breast(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGCTGCTGGTCTCTTCCATTT	0.433													A	3727819	C	A	3727819	3	1	273	1	0	0	0	0	1	0	0	0	2334	913	32	5	159	5	C6orf145	6	3727819	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	502080	3727819	167387248	575	137872											
F13A1	2162	broad.mit.edu	37	chr6	6266932	6266932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagactggatggacagccGcacagacctgtcctctctca	11	13	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:6266932G>A	uc003mwv.2	-	4	553	c.430C>T	c.(430-432)CGG>TGG	p.R144W	F13A1_uc011dib.1_Missense_Mutation_p.R81W	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGACAGCCGCACAGACCTG	0.512													A	6266932	G	A	6266932	3	1	273	1	0	0	0	0	1	0	0	0	5340	1086	38	1	1816	1	F13A1	6	6266932	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2539113	6266932	164848135	576	137873											
LY86	9450	broad.mit.edu	37	chr6	6654835	6654835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtccaccgtggcctgtgCcaatgctactatcatgtgct	10	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:6654835C>T	uc003mwy.1	+	5	498	c.464C>T	c.(463-465)GCC>GTC	p.A155V	LY86_uc003mwz.1_RNA	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	155					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					GTGGCCTGTGCCAATGCTACT	0.527													T	6654835	C	T	6654835	3	4	273	1	0	0	0	0	1	0	0	0	9100	739	26	2	482	2	LY86	6	6654835	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	387903	6654835	164460232	577	137874											
RREB1	6239	broad.mit.edu	37	chr6	7247433	7247433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgctgcaggacctgaccCggcacatgcgctcccacaca	11	17	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:7247433C>T	uc003mxc.2	+	11	4975	c.4585C>T	c.(4585-4587)CGG>TGG	p.R1529W	RREB1_uc003mxb.2_Missense_Mutation_p.R1584W|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1529	C2H2-type 14.				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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGACCTGACCCGGCACATGCG	0.637													T	7247433	C	T	7247433	3	4	273	1	0	0	0	0	1	0	0	0	13679	643	23	1	4784	1	RREB1	6	7247433	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	592598	7247433	163867634	578	137875											
DSP	1832	broad.mit.edu	37	chr6	7585773	7585773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggttcatagatggccgcGccgcacagaggctgcaagac	15	11	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:7585773G>A	uc003mxp.1	+	24	8557	c.8278G>A	c.(8278-8280)GCC>ACC	p.A2760T	DSP_uc003mxq.1_Missense_Mutation_p.A2161T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2760	Plectin 16.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGATGGCCGCGCCGCACAGAG	0.522													A	7585773	G	A	7585773	3	1	273	1	0	0	0	0	1	0	0	0	4781	1087	38	1	8372	1	DSP	6	7585773	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	338340	7585773	163529294	579	137876											
NEDD9	4739	broad.mit.edu	37	chr6	11190484	11190484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgagctgcttggcgtcatCgggcaccgtctttgccacca	13	13	2	1	rs144452810		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:11190484C>T	uc003mzv.2	-	5	1785	c.1618G>A	c.(1618-1620)GAT>AAT	p.D540N	NEDD9_uc010joz.2_Missense_Mutation_p.D540N|NEDD9_uc003mzw.3_Missense_Mutation_p.D394N	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	540					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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGGCGTCATCGGGCACCGTC	0.562													T	11190484	C	T	11190484	3	4	273	1	0	0	0	0	1	0	0	0	10313	884	31	1	898	1	NEDD9	6	11190484	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3604711	11190484	159924583	580	137877											
HIVEP1	3096	broad.mit.edu	37	chr6	12164369	12164370	+	Frame_Shift_Ins	INS	-	-	A													acagtccagcgggaaaatgcINSaaaaaaagttctgaatccac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:12164369_12164370insA	uc003nac.2	+	9	8011_8012	c.7832_7833insA	c.(7831-7833)GCAfs	p.A2611fs	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2611					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGGGAAAATGCAAAAAAAGTTC	0.54													A	12164370	-	A	12164369	7	5	273	1	0	1	1	0	0	0	0	0	7186	710	25	0	7862	0	HIVEP1	6	12164369	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	973885	12164369	158950698	581	137878	721	2									
HIVEP1	3096	broad.mit.edu	37	chr6	12164370	12164371	+	Frame_Shift_Ins	INS	-	-	A													cagtccagcgggaaaatgcaINSaaaaaagttctgaatccacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:12164369_12164370C>CA	uc003nac.3	+	8	8011_8012	c.7832_7833C>CA	c.(7831-7833)gcafs	p.A2611fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2611					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)				CGGGAAAATGCAAAAAAAGTTC	0.54													A	12164371	-	A	12164370	7	5	273	1	0	1	1	0	0	0	0	0	7186	117	5	0	7863	0	HIVEP1	6	12164370	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	12164370	158950697	582	137879	721	2									
SIRT5	23408	broad.mit.edu	37	chr6	13588583	13588584	+	Frame_Shift_Ins	INS	-	-	T													tatggcagattttcgaaagtINStttttgcaaaagcaaagcac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:13588582_13588583G>GT	uc003nay.3	+	3	447_448	c.135_136G>GT	c.(133-138)aagtttfs	p.K45fs	SIRT5_uc003naw.3_Frame_Shift_Ins_p.K45fs|SIRT5_uc003nax.3_Intron|SIRT5_uc011dit.2_Frame_Shift_Ins_p.K45fs	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	45	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding	p.R44Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	ATTTTCGAAAGTTTTTTGCAAA	0.396													T	13588584	-	T	13588583	7	5	273	1	0	1	1	0	0	0	0	0	14341	1725	60	0	142	0	SIRT5	6	13588583	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1424213	13588583	157526484	583	137880											
JARID2	3720	broad.mit.edu	37	chr6	15410470	15410470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggctccttggtaatgAccagtctaagggattaggac	13	7	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:15410470A>G	uc003nbj.2	+	3	441	c.197A>G	c.(196-198)GAC>GGC	p.D66G	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.D28G	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	66					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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTTGGTAATGACCAGTCTAAG	0.458													G	15410470	A	G	15410470	3	3	273	1	0	0	0	0	1	0	0	0	7945	275	10	3	207	3	JARID2	6	15410470	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1821887	15410470	155704597	584	137881											
DTNBP1	84062	broad.mit.edu	37	chr6	15638038	15638038	+	Splice_Site	DEL	A	A	-													gcccatgtatcctcatacctAaaaaaaagcaaaaaataatt					rs140124163		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome				-	15638038	A	-	15638038	8	5	273	1	0	1	0	1	0	0	1	0	4790	377	13	0		0	DTNBP1	6	15638038	Splice_Site	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	227568	15638038	155477029	585	137882											
KIF13A	63971	broad.mit.edu	37	chr6	17817374	17817374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggagttgctccagttccCgctcatacatgagccgctgc	12	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:17817374C>T	uc003ncg.3	-	17	1982	c.1877G>A	c.(1876-1878)CGG>CAG	p.R626Q	KIF13A_uc003ncf.2_Missense_Mutation_p.R626Q|KIF13A_uc003nch.3_Missense_Mutation_p.R626Q|KIF13A_uc003nci.3_Missense_Mutation_p.R626Q|KIF13A_uc003ncj.2_Missense_Mutation_p.R302Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	626	Potential.				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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCCAGTTCCCGCTCATACAT	0.582													T	17817374	C	T	17817374	3	4	273	1	0	0	0	0	1	0	0	0	8274	652	23	1	3657	1	KIF13A	6	17817374	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2179336	17817374	153297693	586	137883											
GPLD1	2822	broad.mit.edu	37	chr6	24436941	24436942	+	Frame_Shift_Ins	INS	-	-	G													gttacatctgctatcctcagINSgggggctgccatgatgattt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:24436940_24436941A>AG	uc003ned.1	-	21	2332_2333	c.2221_2222T>CT	c.(2221-2223)ctgfs	p.L741fs		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	741						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						TGCTATCCTCAGGGGGGCTGCC	0.46													G	24436942	-	G	24436941	7	5	273	1	0	1	1	0	0	0	0	0	6614	991	35	0	317	0	GPLD1	6	24436941	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	6619567	24436941	146678126	587	137884											
SCGN	10590	broad.mit.edu	37	chr6	25665221	25665221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactttcttctgctctttcgCcgggaaaacccactggacag	8	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:25665221C>T	uc003nfb.2	+	4	500	c.297C>T	c.(295-297)CGC>CGT	p.R99R	SCGN_uc010jpz.2_Missense_Mutation_p.A9V	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	99						extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						TGCTCTTTCGCCGGGAAAACC	0.478													T	25665221	C	T	25665221	2	4	273	1	0	0	0	0	0	0	0	1	13903	726	26	2		2	SCGN	6	25665221	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1228280	25665221	145449846	588	137885											
BTN3A1	11119	broad.mit.edu	37	chr6	26413605	26413605	+	Frame_Shift_Del	DEL	A	A	-													gacaggaaagagtggcatatAggggtgtgcagtaagaatgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:26413605delA	uc003nhv.2	+	10	1595	c.1227delA	c.(1225-1227)ATAfs	p.I409fs	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Frame_Shift_Del_p.I357fs|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	409	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						AGTGGCATATAGGGGTGTGCA	0.468													-	26413605	A	-	26413605	7	5	273	1	0	1	0	1	0	0	0	0	1562	410	15	0	1429	0	BTN3A1	6	26413605	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	748384	26413605	144701462	589	137886											
BTN3A1	11119	broad.mit.edu	37	chr6	26413635	26413635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaagaatgtgcagagaaaAggctgggtcaaaatgacacc	12	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:26413635A>G	uc003nhv.2	+	10	1625	c.1257A>G	c.(1255-1257)AAA>AAG	p.K419K	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.K367K|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	419	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TGCAGAGAAAAGGCTGGGTCA	0.493													G	26413635	A	G	26413635	2	3	273	1	0	0	0	0	0	0	0	1	1562	69	3	3		3	BTN3A1	6	26413635	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	30	26413635	144701432	590	137887											
BTN2A1	11120	broad.mit.edu	37	chr6	26465489	26465489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctgatgatacccattgcCgtatgcatctattggatcaa	7	9	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:26465489C>T	uc003nib.1	+	5	1001	c.789C>T	c.(787-789)GCC>GCT	p.A263A	BTN2A1_uc003nic.1_Silent_p.A263A|BTN2A1_uc003nid.1_Silent_p.A111A|BTN2A1_uc011dko.1_Silent_p.A202A|BTN2A1_uc010jqk.1_Silent_p.A23A	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	263	Helical; (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TACCCATTGCCGTATGCATCT	0.433													T	26465489	C	T	26465489	2	4	273	1	0	0	0	0	0	0	0	1	1560	639	23	1		1	BTN2A1	6	26465489	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	51854	26465489	144649578	591	137888											
PRSS16	10279	broad.mit.edu	37	chr6	27218823	27218823	+	Splice_Site	DEL	C	C	-													cggcgtctcctcccttagttCccccatctcattttcgcgtc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:27218822_27218822TC>T	uc003nja.3	+	6	607	c.592_splice	c.e6-1	p.F198_splice	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Splice_Site_p.F88_splice|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	198					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						CTCCCTTAGTTCCCCCATCTC	0.597													-	27218823	C	-	27218823	8	5	273	1	0	1	0	1	0	0	1	0	12616	854	30	0	616	0	PRSS16	6	27218823	Splice_Site	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	753334	27218823	143896244	592	137889											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834922	27834922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgggcttcttagctttaGcggcgcctgccttcttggct	12	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:27834922G>A	uc003njx.2	-	1	438	c.386C>T	c.(385-387)GCT>GTT	p.A129V		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	129					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						CTTAGCTTTAGCGGCGCCTGC	0.597													A	27834922	G	A	27834922	3	1	273	1	0	0	0	0	1	0	0	0	7123	971	34	2	298	2	HIST1H1B	6	27834922	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	616099	27834922	143280145	593	137890											
ZNF193	7746	broad.mit.edu	37	chr6	28200820	28200820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaagagctacagtcggcGttcatttctcattgaacatc	8	10	2	2	rs140538924	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:28200820G>A	uc003nkq.1	+	4	1164	c.1049G>A	c.(1048-1050)CGT>CAT	p.R350H	ZNF193_uc003nkr.1_Missense_Mutation_p.R350H|ZNF193_uc010jqz.1_Missense_Mutation_p.R401H	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	350	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TACAGTCGGCGTTCATTTCTC	0.493													A	28200820	G	A	28200820	3	1	273	1	0	0	0	0	1	0	0	0	17754	1145	40	1	1059	1	ZNF193	6	28200820	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	365898	28200820	142914247	594	137891											
GABBR1	2550	broad.mit.edu	37	chr6	29577082	29577082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctggagagaactgagaCggagataaagagtttctgtg	15	5	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29577082C>T	uc003nmt.3	-	15	2119	c.1783G>A	c.(1783-1785)GTC>ATC	p.V595I	GABBR1_uc003nmp.3_Missense_Mutation_p.V478I|GABBR1_uc003nms.3_Missense_Mutation_p.V478I|GABBR1_uc003nmu.3_Missense_Mutation_p.V533I|GABBR1_uc011dlr.1_Missense_Mutation_p.V418I|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	595	Helical; Name=1; (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	AGAACTGAGACGGAGATAAAG	0.473													T	29577082	C	T	29577082	3	4	273	1	0	0	0	0	1	0	0	0	6155	536	19	1	1138	1	GABBR1	6	29577082	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1376262	29577082	141537985	595	137892											
ZFP57	346171	broad.mit.edu	37	chr6	29641137	29641137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtaacccagatggacgcGgcggtgacgacttagtccag	14	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29641137G>A	uc011dlw.1	-	4	902	c.751C>T	c.(751-753)CGC>TGC	p.R251C	ZFP57_uc003nnl.3_Missense_Mutation_p.R231C	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	167	C2H2-type 3.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						AGATGGACGCGGCGGTGACGA	0.557													A	29641137	G	A	29641137	3	1	273	1	0	0	0	0	1	0	0	0	17648	1116	39	1	863	1	ZFP57	6	29641137	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	64055	29641137	141473930	596	137893											
HLA-F	3134	broad.mit.edu	37	chr6	29694803	29694804	+	Frame_Shift_Ins	INS	-	-	T													gggtgacatgtggatcttgtINStttttttgtggctgtggaca					rs17875385		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29694802_29694803G>GT	uc003nno.4	+	6	1303_1304	c.1179_1180G>GT	c.(1177-1182)ttgtttfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					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	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													T	29694804	-	T	29694803	7	5	273	1	0	1	1	0	0	0	0	0	7211	1725	60	0	1215	0	HLA-F	6	29694803	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	53666	29694803	141420264	597	137894											
HLA-A	3105	broad.mit.edu	37	chr6	29910372	29910373	+	Frame_Shift_Ins	INS	-	-	G													ccctcctcctgctactctcgINSggggccctggccctgaccca					rs2230954	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29910371_29910372C>CG	uc003nol.3	+	0	125_126	c.41_42C>CG	c.(40-42)tcgfs	p.S14fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Frame_Shift_Ins_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Ins_p.S14fs|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.2_5'Flank|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	14					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	MHC class I protein complex|integral to plasma membrane	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						CTGCTACTCTCGGGGGCCCTGG	0.708									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)			G	29910373	-	G	29910372	7	5	273	1	0	1	1	0	0	0	0	0	7195	1103	39	0	44	0	HLA-A	6	29910372	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	215569	29910372	141204695	598	137895											
GNL1	2794	broad.mit.edu	37	chr6	30522958	30522958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctctctcaaaatGcagtcggtatctaagggaac	9	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:30522958G>A	uc003nqh.2	-	3	1278	c.250C>T	c.(250-252)CAT>TAT	p.H84Y	GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.H82Y|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	84					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						CTCTCAAAATGCAGTCGGTAT	0.517													A	30522958	G	A	30522958	3	1	273	1	0	0	0	0	1	0	0	0	6535	1319	46	2	1613	2	GNL1	6	30522958	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	612586	30522958	140592109	599	137896											
NRM	11270	broad.mit.edu	37	chr6	30658014	30658014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccagccatccctggCgggcatctacaggaagttga	14	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:30658014C>T	uc003nrc.2	-	2	158	c.140G>A	c.(139-141)CGC>CAC	p.R47H	KIAA1949_uc003nra.2_5'Flank|KIAA1949_uc003nrb.3_5'Flank|NRM_uc003nrd.2_RNA|NRM_uc003nre.2_Intron	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	nurim	47	Perinuclear space (Potential).					integral to membrane|nuclear inner membrane					0						CCATCCCTGGCGGGCATCTAC	0.577													T	30658014	C	T	30658014	3	4	273	1	0	0	0	0	1	0	0	0	10657	768	27	1	660	1	NRM	6	30658014	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	135056	30658014	140457053	600	137897											
MDC1	9656	broad.mit.edu	37	chr6	30670606	30670606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcttctcttgctcagggtCggtcaccacatattcatccg	8	13	5	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:30670606C>T	uc003nrg.3	-	13	6354	c.5914G>A	c.(5914-5916)GAC>AAC	p.D1972N	MDC1_uc003nrf.3_Missense_Mutation_p.D603N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1972	Required for nuclear localization (NLS2).				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)|ovary(1)|kidney(1)	4						TGCTCAGGGTCGGTCACCACA	0.547								Other_conserved_DNA_damage_response_genes					T	30670606	C	T	30670606	3	4	273	1	0	0	0	0	1	0	0	0	9403	884	31	1	367	1	MDC1	6	30670606	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	12592	30670606	140444461	601	137898											
PSORS1C1	170679	broad.mit.edu	37	chr6	31097424	31097424	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatatgacttgcacaggTgagttacctctctcagtgtt	10	8	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31097424T>C	uc003nsl.1	+	3	287	c.13_splice	c.e3+2	p.D5_splice	PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Splice_Site	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	SEEK1 protein											ovary(1)	1						cttgcacaggtgagttacctc	0.08													C	31097424	T	C	31097424	5	2	273	1	0	0	0	0	0	0	1	0	12714	1710	59	3	17	3	PSORS1C1	6	31097424	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	426818	31097424	140017643	602	137899											
HLA-C	3107	broad.mit.edu	37	chr6	31239405	31239405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggttgtagtagccgcgcAggttccgcaggctcactcgg	14	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31239405A>G	uc003nsy.2	-	2	321	c.314T>C	c.(313-315)CTG>CCG	p.L105P	HLA-C_uc011dnj.1_Missense_Mutation_p.L77P|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.L105P|HLA-C_uc010jsl.2_Missense_Mutation_p.L105P|HLA-C_uc003nta.2_Missense_Mutation_p.L105P|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	105	Extracellular (Potential).|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 membrane|MHC class I protein complex					0						GTAGCCGCGCAGGTTCCGCAG	0.711													G	31239405	A	G	31239405	3	3	273	1	0	0	0	0	1	0	0	0	7197	188	7	3	814	3	HLA-C	6	31239405	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	141981	31239405	139875662	603	137900											
NFKBIL1	4795	broad.mit.edu	37	chr6	31515485	31515486	+	Frame_Shift_Ins	INS	-	-	C													ggtctgatgagtaacccctcINScccccaggttccagaggaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31515484_31515485T>TC	uc003nub.3	+	0	132_133	c.13_14T>TC	c.(13-15)tccfs	p.S5fs	DDX39B_uc003ntv.3_5'Flank|ATP6V1G2_uc003ntz.3_5'Flank|ATP6V1G2_uc003nua.3_5'Flank|ATP6V1G2_uc021yur.1_5'Flank|NFKBIL1_uc011dnr.2_Intron|NFKBIL1_uc011dns.2_Intron|NFKBIL1_uc011dnt.1_Intron|NFKBIL1_uc003nuc.3_Frame_Shift_Ins_p.S5fs	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	5					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GAGTAACCCCTCCCCCCAGGTT	0.54													C	31515486	-	C	31515485	7	5	273	1	0	1	1	0	0	0	0	0	10381	855	30	0	16	0	NFKBIL1	6	31515485	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	276080	31515485	139599582	604	137901											
BAT3	7917	broad.mit.edu	37	chr6	31608942	31608942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccaagcagtgcaggtttAgggccaggcattcaaacagg	12	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31608942A>G	uc003nvg.3	-	19	2950	c.2636T>C	c.(2635-2637)CTA>CCA	p.L879P	BAT3_uc003nvf.3_Missense_Mutation_p.L873P|BAT3_uc003nvh.3_Missense_Mutation_p.L873P|BAT3_uc003nvi.3_Missense_Mutation_p.L873P|BAT3_uc011dnw.1_Missense_Mutation_p.L873P|BAT3_uc011dnx.1_Missense_Mutation_p.L747P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	879					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						GTGCAGGTTTAGGGCCAGGCA	0.527													G	31608942	A	G	31608942	3	3	273	1	0	0	0	0	1	0	0	0	1322	420	15	3	790	3	BAT3	6	31608942	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	93457	31608942	139506125	605	137902											
BAT3	7917	broad.mit.edu	37	chr6	31615562	31615562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcacagccggtggctgCgggggcggctgactgtgctg	21	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31615562C>T	uc003nvg.3	-	7	926	c.612G>A	c.(610-612)CCG>CCA	p.P204P	BAT3_uc003nvf.3_Silent_p.P198P|BAT3_uc003nvh.3_Silent_p.P198P|BAT3_uc003nvi.3_Silent_p.P198P|BAT3_uc011dnw.1_Silent_p.P198P|BAT3_uc011dnx.1_Silent_p.P198P|BAT3_uc003nvj.1_Silent_p.P198P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	204	Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						CCGGTGGCTGCGGGGGCGGCT	0.607													T	31615562	C	T	31615562	2	4	273	1	0	0	0	0	0	0	0	1	1322	755	27	1		1	BAT3	6	31615562	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6620	31615562	139499505	606	137903											
SKIV2L	6499	broad.mit.edu	37	chr6	31928236	31928236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaacacaaatctctcgGctacaacctccttgtctctt	6	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31928236G>A	uc003nyn.1	+	5	771	c.382G>A	c.(382-384)GCT>ACT	p.A128T	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	128						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						AAATCTCTCGGCTACAACCTC	0.557													A	31928236	G	A	31928236	3	1	273	1	0	0	0	0	1	0	0	0	14359	1203	42	2	400	2	SKIV2L	6	31928236	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	312674	31928236	139186831	607	137904											
NOTCH4	4855	broad.mit.edu	37	chr6	32169930	32169930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgggtggcactgcccGtcccggaagagaagccagca	14	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:32169930G>A	uc003obb.2	-	21	3817	c.3678C>T	c.(3676-3678)GAC>GAT	p.D1226D	NOTCH4_uc003oba.2_Translation_Start_Site|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1226	LNR 2.|Extracellular (Potential).				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GGCACTGCCCGTCCCGGAAGA	0.627													A	32169930	G	A	32169930	2	1	273	1	0	0	0	0	0	0	0	1	10551	1136	40	1		1	NOTCH4	6	32169930	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	241694	32169930	138945137	608	137905											
BRD2	6046	broad.mit.edu	37	chr6	32945317	32945317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacaatcccccagatcaCgatgttgtggcaatggcacg	10	11	1	1	rs139231674		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:32945317C>T	uc003ocn.3	+	8	3000	c.1299C>T	c.(1297-1299)CAC>CAT	p.H433H	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.H433H|BRD2_uc003ocp.3_Silent_p.H313H|BRD2_uc010juh.2_Silent_p.H433H	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	433	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCCAGATCACGATGTTGTGG	0.463													T	32945317	C	T	32945317	2	4	273	1	0	0	0	0	0	0	0	1	1502	535	19	1		1	BRD2	6	32945317	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	775387	32945317	138169750	609	137906											
SLC39A7	7922	broad.mit.edu	37	chr6	33169607	33169607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaactctccccggcatcGctctctacttcagatcttgc	7	16	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:33169607G>A	uc003odf.2	+	3	614	c.497G>A	c.(496-498)CGC>CAC	p.R166H	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.R166H|SLC39A7_uc011dqv.1_Missense_Mutation_p.R41H|SLC39A7_uc003odh.2_5'Flank|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	166						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						CCCCGGCATCGCTCTCTACTT	0.542													A	33169607	G	A	33169607	3	1	273	1	0	0	0	0	1	0	0	0	14623	1087	38	1	503	1	SLC39A7	6	33169607	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	224290	33169607	137945460	610	137907											
SCUBE3	222663	broad.mit.edu	37	chr6	35205683	35205683	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctcctaaacagagacCtgtgctgtcaacaacggggg	10	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:35205683C>A	uc003okf.1	+	7	723	c.717C>A	c.(715-717)ACC>ACA	p.T239T	SCUBE3_uc003okg.1_Silent_p.T238T|SCUBE3_uc003okh.1_Silent_p.T126T	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	239	EGF-like 6.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AAACAGAGACCTGTGCTGTCA	0.577													A	35205683	C	A	35205683	2	1	273	1	0	0	0	0	0	0	0	1	13946	668	24	5		5	SCUBE3	6	35205683	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2036076	35205683	135909384	611	137908											
LHFPL5	222662	broad.mit.edu	37	chr6	35782386	35782386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcaagtgaggtgcggcGcatgtgtggggagcagacgg	20	7	1	2	rs139179263	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:35782386G>A	uc003olg.1	+	2	853	c.476G>A	c.(475-477)CGC>CAC	p.R159H		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	159						integral to membrane				skin(1)	1						GAGGTGCGGCGCATGTGTGGG	0.632													A	35782386	G	A	35782386	3	1	273	1	0	0	0	0	1	0	0	0	8768	1087	38	1	482	1	LHFPL5	6	35782386	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	576703	35782386	135332681	612	137909											
MAPK13	5603	broad.mit.edu	37	chr6	36099077	36099077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacaagcggtcaggggagaAggtggccatcaagaagctga	16	8	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36099077A>C	uc003ols.2	+	2	247	c.149A>C	c.(148-150)AAG>ACG	p.K50T	MAPK13_uc003olt.2_RNA	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	50	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						TCAGGGGAGAAGGTGGCCATC	0.647													C	36099077	A	C	36099077	3	2	273	1	0	0	0	0	1	0	0	0	9275	72	3	5	155	5	MAPK13	6	36099077	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	316691	36099077	135015990	613	137910											
C6orf222	389384	broad.mit.edu	37	chr6	36291215	36291215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtttcttatggtaaaaCgctctcctgaagctcgacct	9	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36291215C>T	uc003oly.2	-	8	1504	c.1326G>A	c.(1324-1326)GCG>GCA	p.A442A		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	442										skin(2)|ovary(1)|breast(1)	4						TATGGTAAAACGCTCTCCTGA	0.572													T	36291215	C	T	36291215	2	4	273	1	0	0	0	0	0	0	0	1	2356	523	19	1		1	C6orf222	6	36291215	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	192138	36291215	134823852	614	137911											
ETV7	51513	broad.mit.edu	37	chr6	36343658	36343658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgacctgagctgggCgcacggtgccggaagtcgtc	14	13	0	2	rs138350746		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36343658C>T	uc003omb.2	-	3	446	c.297G>A	c.(295-297)GCG>GCA	p.A99A	ETV7_uc003olz.1_Silent_p.A99A|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.A27T|ETV7_uc010jwh.2_Silent_p.A18A|ETV7_uc010jwi.2_Silent_p.A99A|ETV7_uc011dtl.1_Intron	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	99	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTGAGCTGGGCGCACGGTGCC	0.652													T	36343658	C	T	36343658	2	4	273	1	0	0	0	0	0	0	0	1	5284	755	27	1		1	ETV7	6	36343658	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	52443	36343658	134771409	615	137912											
STK38	11329	broad.mit.edu	37	chr6	36465582	36465583	+	Frame_Shift_Ins	INS	-	-	A													tgttcccagtcaacgccttcINSaaaaaaagagttacttttta							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36465582_36465583insA	uc003omg.2	-	11	1734_1735	c.1146_1147insT	c.(1144-1149)TTTGAAfs	p.F382fs	STK38_uc003omh.2_Frame_Shift_Ins_p.F382fs|STK38_uc003omi.2_Frame_Shift_Ins_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	382_383	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						TCAACGCCTTCAAAAAAAGAGT	0.366													A	36465583	-	A	36465582	7	5	273	1	0	1	1	0	0	0	0	0	15302	835	29	0	262	0	STK38	6	36465582	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	121924	36465582	134649485	616	137913	722	2									
STK38	11329	broad.mit.edu	37	chr6	36465583	36465584	+	Frame_Shift_Ins	INS	-	-	A													gttcccagtcaacgccttcaINSaaaaaagagttactttttat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36465582_36465583C>CA	uc003omg.3	-	10	1734_1735	c.1146_1147G>TG	c.(1144-1149)tttgaafs	p.F382fs	STK38_uc003omh.3_Frame_Shift_Ins_p.F382fs|STK38_uc003omi.3_Frame_Shift_Ins_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAACGCCTTCAAAAAAAGAGT	0.366													A	36465584	-	A	36465583	7	5	273	1	0	1	1	0	0	0	0	0	15302	127	5	0	263	0	STK38	6	36465583	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	36465583	134649484	617	137914	722	2									
SFRS3	6428	broad.mit.edu	37	chr6	36566642	36566642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaacactatgtggctgcCgtgtaagagtggaactgtcg	13	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36566642C>T	uc003omj.2	+	3	394	c.223C>T	c.(223-225)CGT>TGT	p.R75C	SFRS3_uc003omk.2_RNA|SFRS3_uc011dtp.1_Missense_Mutation_p.R75C	NM_003017	NP_003008	P84103	SRSF3_HUMAN	splicing factor, arginine/serine-rich 3	75	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						ATGTGGCTGCCGTGTAAGAGT	0.463			T	BCL6	follicular lymphoma								T	36566642	C	T	36566642	3	4	273	1	0	0	0	0	1	0	0	0	14178	652	23	1	229	1	SFRS3	6	36566642	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	101059	36566642	134548425	618	137915											
C6orf89	221477	broad.mit.edu	37	chr6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C													aaagaatgaacctcagagacINScccccccgcagtatcctctc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431													C	36867372	-	C	36867371	7	5	273	1	0	1	1	0	0	0	0	0	2373	507	18	0	178	0	C6orf89	6	36867371	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	300729	36867371	134247696	619	137916											
GLO1	2739	broad.mit.edu	37	chr6	38670752	38670752	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtcctgtgcccaccttggTactggggtccgcgtcggagc	15	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:38670752T>C	uc003ooc.2	-	1	201	c.79A>G	c.(79-81)ACC>GCC	p.T27A		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	27					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)	CCCACCTTGGTACTGGGGTCC	0.706													C	38670752	T	C	38670752	3	2	273	1	0	0	0	0	1	0	0	0	6449	1638	57	3	499	3	GLO1	6	38670752	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1803381	38670752	132444315	620	137917											
DNAH8	1769	broad.mit.edu	37	chr6	38791451	38791451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attattgttgtaggagcactTgaattacatacaggtatttt	8	4	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:38791451T>C	uc003ooe.1	+	26	3783	c.3183T>C	c.(3181-3183)CTT>CTC	p.L1061L		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TAGGAGCACTTGAATTACATA	0.318													C	38791451	T	C	38791451	2	2	273	1	0	0	0	0	0	0	0	1	4607	1799	63	3		3	DNAH8	6	38791451	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	120699	38791451	132323616	621	137918											
MOCS1	4337	broad.mit.edu	37	chr6	39877590	39877590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttacctgcatgctgcCgcttcttcctgcccacagca	7	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:39877590C>T	uc003opb.2	-	8	1229	c.1091G>A	c.(1090-1092)CGG>CAG	p.R364Q	MOCS1_uc003opa.2_Missense_Mutation_p.R364Q|MOCS1_uc003opc.2_Missense_Mutation_p.R364Q|MOCS1_uc003opd.2_Missense_Mutation_p.R364Q|MOCS1_uc003ope.2_Missense_Mutation_p.R277Q	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	364	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGCATGCTGCCGCTTCTTCCT	0.612													T	39877590	C	T	39877590	3	4	273	1	0	0	0	0	1	0	0	0	9690	652	23	1	74	1	MOCS1	6	39877590	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1086139	39877590	131237477	622	137919											
TREML1	340205	broad.mit.edu	37	chr6	41121642	41121642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaggtctgtgagaaacGtacgcctgcccgctggagct	12	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:41121642G>A	uc011duc.1	-	2	274	c.230C>T	c.(229-231)ACG>ATG	p.T77M	TREML1_uc003opx.2_Missense_Mutation_p.T77M|TREML1_uc011dud.1_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	77	Ig-like V-type.|Extracellular (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTGAGAAACGTACGCCTGCC	0.627													A	41121642	G	A	41121642	3	1	273	1	0	0	0	0	1	0	0	0	16469	1145	40	1	723	1	TREML1	6	41121642	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1244052	41121642	129993425	623	137920											
TFEB	7942	broad.mit.edu	37	chr6	41652349	41652349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagggtcacagcacatcGccctcctccatgctgaagct	9	16	1	1	rs150378781	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:41652349G>A	uc003oqs.1	-	10	1721	c.1419C>T	c.(1417-1419)GGC>GGT	p.G473G	TFEB_uc003oqt.1_Silent_p.G473G|TFEB_uc003oqu.1_Silent_p.G487G|TFEB_uc003oqr.1_Silent_p.G388G	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	473				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	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			ovary(1)	1	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)			ACAGCACATCGCCCTCCTCCA	0.687			T	ALPHA	renal (childhood epithelioid)								A	41652349	G	A	41652349	2	1	273	1	0	0	0	0	0	0	0	1	15798	1074	38	1		1	TFEB	6	41652349	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	530707	41652349	129462718	624	137921											
MRPS10	55173	broad.mit.edu	37	chr6	42176060	42176060	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttttcttctgatagTgtttcccagattggctcctt	6	10	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:42176060T>C	uc003osa.3	-	7	619	c.573A>G	c.(571-573)ACA>ACG	p.T191T	MRPS10_uc011dup.1_Silent_p.T150T	NM_018141	NP_060611	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	191					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome				0	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CTTCTGATAGTGTTTCCCAGA	0.368													C	42176060	T	C	42176060	2	2	273	1	0	0	0	0	0	0	0	1	9821	1683	59	3		3	MRPS10	6	42176060	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	523711	42176060	128939007	625	137922											
KLC4	89953	broad.mit.edu	37	chr6	43039913	43039913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacactactctgagaaacCtgggagctctgtataggcgc	11	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43039913C>A	uc003otv.1	+	12	1485	c.1408C>A	c.(1408-1410)CTG>ATG	p.L470M	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.L393M|KLC4_uc003otw.1_Missense_Mutation_p.L488M|KLC4_uc003otx.1_Missense_Mutation_p.L470M|KLC4_uc003oty.1_Missense_Mutation_p.L470M|KLC4_uc003otz.1_Missense_Mutation_p.L470M	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	470	TPR 7.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			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)			TCTGAGAAACCTGGGAGCTCT	0.532													A	43039913	C	A	43039913	3	1	273	1	0	0	0	0	1	0	0	0	8336	680	24	5	1577	5	KLC4	6	43039913	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	863853	43039913	128075154	626	137923											
CUL9	23113	broad.mit.edu	37	chr6	43154719	43154719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctggcagtcgacaggcCgcacttactgggtgcactgg	13	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43154719C>T	uc003ouk.2	+	5	1348	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.R425C|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	425					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GTCGACAGGCCGCACTTACTG	0.572													T	43154719	C	T	43154719	3	4	273	1	0	0	0	0	1	0	0	0	4061	652	23	1	1287	1	CUL9	6	43154719	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	114806	43154719	127960348	627	137924											
CUL9	23113	broad.mit.edu	37	chr6	43166454	43166454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggacttggagcgtgtgCtgtgccgtgagggcagcccc	16	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43166454C>T	uc003ouk.2	+	12	2986	c.2911C>T	c.(2911-2913)CTG>TTG	p.L971L	CUL9_uc003oul.2_Silent_p.L971L|CUL9_uc010jyk.2_Silent_p.L123L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	971					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGAGCGTGTGCTGTGCCGTGA	0.642													T	43166454	C	T	43166454	2	4	273	1	0	0	0	0	0	0	0	1	4061	796	28	2		2	CUL9	6	43166454	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	11735	43166454	127948613	628	137925											
ZNF318	24149	broad.mit.edu	37	chr6	43310600	43310600	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttagtacgaaacttctcAttgtttacttttgattccta	4	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43310600A>G	uc003oux.2	-	7	3168	c.3090T>C	c.(3088-3090)AAT>AAC	p.N1030N	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1030					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAAACTTCTCATTGTTTACTT	0.428													G	43310600	A	G	43310600	2	3	273	1	0	0	0	0	0	0	0	1	17833	214	8	3		3	ZNF318	6	43310600	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	144146	43310600	127804467	629	137926											
ABCC10	89845	broad.mit.edu	37	chr6	43403984	43403984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatctcgaagtgaaaaAggtttgttggacagacaccc	10	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43403984A>G	uc003ouy.1	+	6	2089	c.1874A>G	c.(1873-1875)AAG>AGG	p.K625R	ABCC10_uc003ouz.1_Missense_Mutation_p.K597R|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	625	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(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)			GAAGTGAAAAAGGTTTGTTGG	0.517													G	43403984	A	G	43403984	3	3	273	1	0	0	0	0	1	0	0	0	50	86	3	3	1804	3	ABCC10	6	43403984	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	93384	43403984	127711083	630	137927											
MEP1A	4224	broad.mit.edu	37	chr6	46802479	46802479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacctcatcatatttgtgGactttgaaggtacttttgtt	8	6	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:46802479G>A	uc010jzh.1	+	12	1816	c.1774G>A	c.(1774-1776)GAC>AAC	p.D592N	MEP1A_uc011dwg.1_Missense_Mutation_p.D314N|MEP1A_uc011dwh.1_Missense_Mutation_p.D620N|MEP1A_uc011dwi.1_Missense_Mutation_p.D492N	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	592	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			CATATTTGTGGACTTTGAAGG	0.408													A	46802479	G	A	46802479	3	1	273	1	0	0	0	0	1	0	0	0	9475	1174	41	4	1820	4	MEP1A	6	46802479	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3398495	46802479	124312588	631	137928											
DEFB113	245927	broad.mit.edu	37	chr6	49936542	49936542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaacaagctgacattctcTttttctctctgcaacttctc	4	13	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:49936542T>C	uc011dwq.1	-	2	97	c.97A>G	c.(97-99)AGA>GGA	p.R33G		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	33					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					TGACATTCTCTTTTTCTCTCT	0.398													C	49936542	T	C	49936542	3	2	273	1	0	0	0	0	1	0	0	0	4402	1617	56	3	147	3	DEFB113	6	49936542	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3134063	49936542	121178525	632	137929											
GCLC	2729	broad.mit.edu	37	chr6	53364900	53364900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactacatctggtgtccaCatccacttccatgttttcaa	4	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:53364900C>T	uc003pbw.1	-	15	2033	c.1645G>A	c.(1645-1647)GTG>ATG	p.V549M	GCLC_uc003pbv.1_Missense_Mutation_p.V273M	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	549					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			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTGGTGTCCACATCCACTTCC	0.398													T	53364900	C	T	53364900	3	4	273	1	0	0	0	0	1	0	0	0	6295	478	17	4	276	4	GCLC	6	53364900	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3428358	53364900	117750167	633	137930											
FAM83B	222584	broad.mit.edu	37	chr6	54806576	54806576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcggcgtgtttacagtcGttttgagccgttttgtaaga	12	6	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:54806576G>A	uc003pck.2	+	5	2923	c.2807G>A	c.(2806-2808)CGT>CAT	p.R936H		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	936										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GTTTACAGTCGTTTTGAGCCG	0.443													A	54806576	G	A	54806576	3	1	273	1	0	0	0	0	1	0	0	0	5634	1145	40	1	2821	1	FAM83B	6	54806576	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1441676	54806576	116308491	634	137931											
PRIM2	5558	broad.mit.edu	37	chr6	57472369	57472369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgttgtcagggtgcccattCcgtcacagtgatccagagct	11	11	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:57472369C>A	uc003pdx.2	+	13	1245	c.1158C>A	c.(1156-1158)TTC>TTA	p.F386L		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	386					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	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGTGCCCATTCCGTCACAGTG	0.458													A	57472369	C	A	57472369	3	1	273	1	0	0	0	0	1	0	0	0	12491	854	30	5	1200	5	PRIM2	6	57472369	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2665793	57472369	113642698	635	137932											
PHF3	23469	broad.mit.edu	37	chr6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-													cctgtagatgatctttctccAaaaaaagtaaaagttgttgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:64415952_64415952CA>C	uc003pep.1	+	10	3426	c.3401_3401CA>C	c.(3400-3402)ccafs	p.P1134fs	PHF3_uc010kah.1_Frame_Shift_Del_p.P948fs|PHF3_uc003pen.2_Frame_Shift_Del_p.P1046fs|PHF3_uc011dxs.1_Frame_Shift_Del_p.P403fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1134					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)			GATCTTTCTCCAAAAAAAGTA	0.358													-	64415953	A	-	64415953	7	5	273	1	0	1	0	1	0	0	0	0	11836	117	5	0	3444	0	PHF3	6	64415953	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	6943584	64415953	106699114	636	137933											
BAI3	577	broad.mit.edu	37	chr6	69349020	69349020	+	Frame_Shift_Del	DEL	T	T	-													ggggaagaagatcagaaatcTttttttgagtttttggtatt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:69349020delT	uc003pev.3	+	3	901	c.453delT	c.(451-453)TCTfs	p.S151fs	BAI3_uc010kak.2_Frame_Shift_Del_p.S151fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	151	CUB.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATCAGAAATCTTTTTTTGAGT	0.348													-	69349020	T	-	69349020	7	5	273	1	0	1	0	1	0	0	0	0	1300	1596	56	0	455	0	BAI3	6	69349020	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	4933067	69349020	101766047	637	137934											
FAM135A	57579	broad.mit.edu	37	chr6	71269576	71269577	+	Frame_Shift_Ins	INS	-	-	T													ctgttcttgattcggaaataINStttttagagaaattctttct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:71269576_71269577insT	uc003pfj.2	+	20	4633_4634	c.4500_4501insT	c.(4498-4503)ATATTTfs	p.I1500fs	FAM135A_uc003pfi.2_Frame_Shift_Ins_p.I1304fs|FAM135A_uc003pfh.2_Frame_Shift_Ins_p.I1287fs|FAM135A_uc003pfl.2_Frame_Shift_Ins_p.I1167fs|FAM135A_uc003pfn.2_Frame_Shift_Ins_p.I706fs|FAM135A_uc010kan.1_Frame_Shift_Ins_p.I242fs|FAM135A_uc003pfp.2_Frame_Shift_Ins_p.I64fs	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1500_1501										central_nervous_system(1)	1						ATTCGGAAATATTTTTAGAGAA	0.361													T	71269577	-	T	71269576	7	5	273	1	0	1	1	0	0	0	0	0	5448	439	16	0	4656	0	FAM135A	6	71269576	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1920556	71269576	99845491	638	137935	723	2									
FAM135A	57579	broad.mit.edu	37	chr6	71269577	71269578	+	Frame_Shift_Ins	INS	-	-	T													tgttcttgattcggaaatatINSttttagagaaattctttctg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:71269576_71269577A>AT	uc003pfj.3	+	19	4633_4634	c.4500_4501A>AT	c.(4498-4503)atatttfs	p.I1500fs	FAM135A_uc003pfi.3_Frame_Shift_Ins_p.I1304fs|FAM135A_uc003pfh.3_Frame_Shift_Ins_p.I1287fs|FAM135A_uc003pfl.3_Frame_Shift_Ins_p.I1167fs|FAM135A_uc003pfn.3_Frame_Shift_Ins_p.I706fs|FAM135A_uc010kan.2_Frame_Shift_Ins_p.I242fs|FAM135A_uc003pfp.3_Frame_Shift_Ins_p.I64fs	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1500										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						ATTCGGAAATATTTTTAGAGAA	0.361													T	71269578	-	T	71269577	7	5	273	1	0	1	1	0	0	0	0	0	5448	1493	52	0	4657	0	FAM135A	6	71269577	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	71269577	99845490	639	137936	723	2									
RIMS1	22999	broad.mit.edu	37	chr6	72892670	72892670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccatgctgcggaacgActctttgagctcagaccagt	12	11	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:72892670A>G	uc003pga.2	+	6	1573	c.1496A>G	c.(1495-1497)GAC>GGC	p.D499G	RIMS1_uc011dyb.1_Missense_Mutation_p.D125G|RIMS1_uc003pgc.2_Missense_Mutation_p.D125G|RIMS1_uc003pgb.3_Missense_Mutation_p.D125G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	499					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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTGCGGAACGACTCTTTGAGC	0.677													G	72892670	A	G	72892670	3	3	273	1	0	0	0	0	1	0	0	0	13367	275	10	3	1518	3	RIMS1	6	72892670	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1623093	72892670	98222397	640	137937											
COL12A1	1303	broad.mit.edu	37	chr6	75831103	75831103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaattatcgtccccaAtgctccaggaggcatcagtc	8	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75831103A>G	uc003phs.2	-	44	7167	c.7001T>C	c.(7000-7002)ATT>ACT	p.I2334T	COL12A1_uc003pht.2_Missense_Mutation_p.I1170T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2334	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATCGTCCCCAATGCTCCAGGA	0.423													G	75831103	A	G	75831103	3	3	273	1	0	0	0	0	1	0	0	0	3669	101	4	3	2282	3	COL12A1	6	75831103	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2938433	75831103	95283964	641	137938											
COL12A1	1303	broad.mit.edu	37	chr6	75848669	75848669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaagtttgttggggctgGcacgggtcctatcatgagaa	13	7	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75848669G>A	uc003phs.2	-	28	5132	c.4966C>T	c.(4966-4968)CCA>TCA	p.P1656S	COL12A1_uc003pht.2_Missense_Mutation_p.P492S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1656	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GTTGGGGCTGGCACGGGTCCT	0.383													A	75848669	G	A	75848669	3	1	273	1	0	0	0	0	1	0	0	0	3669	1203	42	2	4381	2	COL12A1	6	75848669	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	17566	75848669	95266398	642	137939											
COL12A1	1303	broad.mit.edu	37	chr6	75862092	75862092	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaaagacttccacaatAcgagaaatgaaactcctcac	5	11	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75862092A>G	uc003phs.2	-	18	3838	c.3672T>C	c.(3670-3672)CGT>CGC	p.R1224R	COL12A1_uc003pht.2_Silent_p.R60R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1224	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTTCCACAATACGAGAAATGA	0.443													G	75862092	A	G	75862092	2	3	273	1	0	0	0	0	0	0	0	1	3669	378	14	3		3	COL12A1	6	75862092	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	13423	75862092	95252975	643	137940											
COL12A1	1303	broad.mit.edu	37	chr6	75884752	75884752	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaatatgatggtaattAccttcaagtgttgttccttc	7	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75884752A>G	uc003phs.2	-	13	2876	c.2710_splice	c.e13+1	p.E904_splice	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GATGGTAATTACCTTCAAGTG	0.443													G	75884752	A	G	75884752	5	3	273	1	0	0	0	0	0	0	1	0	3669	405	14	3	6695	3	COL12A1	6	75884752	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	22660	75884752	95230315	644	137941											
FILIP1	27145	broad.mit.edu	37	chr6	76024861	76024861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttattgagtcgtttagcAttttccttttctttgcgggc	9	7	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:76024861A>G	uc003pia.2	-	5	1060	c.687T>C	c.(685-687)AAT>AAC	p.N229N	FILIP1_uc003phy.1_Silent_p.N229N|FILIP1_uc003phz.2_Silent_p.N130N|FILIP1_uc010kbe.2_Silent_p.N232N|FILIP1_uc003pib.1_5'UTR	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	229	Potential.									skin(3)|ovary(1)	4						GTCGTTTAGCATTTTCCTTTT	0.353													G	76024861	A	G	76024861	2	3	273	1	0	0	0	0	0	0	0	1	5894	214	8	3		3	FILIP1	6	76024861	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	140109	76024861	95090206	645	137942											
SENP6	26054	broad.mit.edu	37	chr6	76369099	76369099	+	Frame_Shift_Del	DEL	A	A	-													cctcctctatctcctgcttcAaaaaaatgtttaacccattt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:76369099delA	uc003pid.3	+	8	1291	c.672delA	c.(670-672)TCAfs	p.S224fs	SENP6_uc003pie.3_Frame_Shift_Del_p.S217fs|SENP6_uc003pic.2_Frame_Shift_Del_p.S217fs|SENP6_uc003pif.1_Frame_Shift_Del_p.S115fs	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	224					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				CTCCTGCTTCAAAAAAATGTT	0.343													-	76369099	A	-	76369099	7	5	273	1	0	1	0	1	0	0	0	0	14050	117	5	0	702	0	SENP6	6	76369099	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	344238	76369099	94745968	646	137943											
HTR1B	3351	broad.mit.edu	37	chr6	78172447	78172447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcggccatagagggcgAtgaggagcagggtggggaag	21	5	0	3	rs150030508	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:78172447A>G	uc003pil.1	-	1	674	c.674T>C	c.(673-675)ATC>ACC	p.I225T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	225	Helical; Name=5; (By similarity).				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				0		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)	ATAGAGGGCGATGAGGAGCAG	0.597													G	78172447	A	G	78172447	3	3	273	1	0	0	0	0	1	0	0	0	7437	333	12	3	502	3	HTR1B	6	78172447	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1803348	78172447	92942620	647	137944											
LCA5	167691	broad.mit.edu	37	chr6	80228501	80228501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgaagaactgaccagCgatgatcggccagaagactg	14	9	0	6	rs138424901		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:80228501C>T	uc003pix.2	-	2	546	c.111G>A	c.(109-111)TCG>TCA	p.S37S	LCA5_uc003piy.2_Silent_p.S37S|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.S37S	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	37					protein transport	cilium axoneme|microtubule basal body	protein binding				0		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)		AACTGACCAGCGATGATCGGC	0.418													T	80228501	C	T	80228501	2	4	273	1	0	0	0	0	0	0	0	1	8656	755	27	1		1	LCA5	6	80228501	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2056054	80228501	90886566	648	137945											
FAM46A	55603	broad.mit.edu	37	chr6	82459685	82459685	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggtcatgagatactcAtacttgcggtcttccaatcc	9	10	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:82459685A>G	uc003pjg.2	-	3	1374	c.1056T>C	c.(1054-1056)TAT>TAC	p.Y352Y	FAM46A_uc003pjf.2_Silent_p.Y371Y	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	352											0		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)		TGAGATACTCATACTTGCGGT	0.453													G	82459685	A	G	82459685	2	3	273	1	0	0	0	0	0	0	0	1	5565	224	8	3		3	FAM46A	6	82459685	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2231184	82459685	88655382	649	137946											
DOPEY1	23033	broad.mit.edu	37	chr6	83828616	83828616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctttcaggccactcgaCcggatatgatcaggatcttg	9	11	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:83828616C>T	uc003pjs.1	+	8	1050	c.790C>T	c.(790-792)CCG>TCG	p.P264S	DOPEY1_uc011dyy.1_Missense_Mutation_p.P264S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P264S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	264					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		GGCCACTCGACCGGATATGAT	0.373													T	83828616	C	T	83828616	3	4	273	1	0	0	0	0	1	0	0	0	4707	507	18	4	812	4	DOPEY1	6	83828616	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1368931	83828616	87286451	650	137947											
KIAA1009	22832	broad.mit.edu	37	chr6	84862599	84862600	+	Frame_Shift_Ins	INS	-	-	T													agaggtcttgtatttctctcINSttttttgcagccagttcttc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:84862599_84862600insT	uc010kbp.2	-	23	3390_3391	c.3293_3294insA	c.(3292-3294)AAGfs	p.K1098fs	KIAA1009_uc003pkj.3_Frame_Shift_Ins_p.K1022fs|KIAA1009_uc003pki.3_Frame_Shift_Ins_p.K484fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1098	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		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)		GTATTTCTCTCTTTTTTGCAGC	0.386													T	84862600	-	T	84862599	7	5	273	1	0	1	1	0	0	0	0	0	8203	912	32	0	937	0	KIAA1009	6	84862599	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1033983	84862599	86252468	651	137948	724	2									
KIAA1009	22832	broad.mit.edu	37	chr6	84862600	84862601	+	Frame_Shift_Ins	INS	-	-	T													gaggtcttgtatttctctctINStttttgcagccagttcttca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:84862599_84862600C>CT	uc010kbp.3	-	22	3390_3391	c.3293_3294G>AG	c.(3292-3294)aagfs	p.K1098fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.K1022fs|KIAA1009_uc003pki.4_Frame_Shift_Ins_p.K484fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1098					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)		GTATTTCTCTCTTTTTTGCAGC	0.386													T	84862601	-	T	84862600	7	5	273	1	0	1	1	0	0	0	0	0	8203	1609	56	0	938	0	KIAA1009	6	84862600	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	84862600	86252467	652	137949	724	2									
KIAA1009	22832	broad.mit.edu	37	chr6	84930881	84930881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgaattttcaaaagaatcAtctgaaagctgaattagata	6	5	4	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:84930881A>T	uc010kbp.2	-	3	163	c.66T>A	c.(64-66)GAT>GAA	p.D22E	KIAA1009_uc003pkj.3_5'UTR|KIAA1009_uc003pkk.2_Missense_Mutation_p.D22E	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	22					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		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)		CAAAAGAATCATCTGAAAGCT	0.303													T	84930881	A	T	84930881	3	4	273	1	0	0	0	0	1	0	0	0	8203	214	8	5	4245	5	KIAA1009	6	84930881	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	68281	84930881	86184186	653	137950											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324688	86324688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccgcggccacccctcGcaccacgtaccccgcggcct	8	23	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:86324688G>A	uc003pla.2	-	11	2199	c.1658C>T	c.(1657-1659)GCG>GTG	p.A553V	SYNCRIP_uc003pku.2_Intron|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Intron|SYNCRIP_uc003pkv.2_Intron|SYNCRIP_uc003pkx.2_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.A518V	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	553	Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G.				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			ovary(2)	2		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)		GCCACCCCTCGCACCACGTAC	0.592													A	86324688	G	A	86324688	3	1	273	1	0	0	0	0	1	0	0	0	15441	1087	38	1	263	1	SYNCRIP	6	86324688	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1393807	86324688	84790379	654	137951											
ZNF292	23036	broad.mit.edu	37	chr6	87966824	87966824	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttattttttgccatcAccggtgaacagctcaaatcc	6	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:87966824A>G	uc003plm.3	+	8	3518	c.3477A>G	c.(3475-3477)TCA>TCG	p.S1159S		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		TTTTGCCATCACCGGTGAACA	0.393													G	87966824	A	G	87966824	2	3	273	1	0	0	0	0	0	0	0	1	17823	146	6	3		3	ZNF292	6	87966824	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1642136	87966824	83148243	655	137952											
C6orf167	253714	broad.mit.edu	37	chr6	97620979	97620979	+	Frame_Shift_Del	DEL	T	T	-													tgcagccctgcactgaaaacTttttttcccaaataaggctt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:97620979delT	uc003ppb.2	-	19	3065	c.2799delA	c.(2797-2799)AAAfs	p.K933fs	C6orf167_uc011eaf.1_Frame_Shift_Del_p.K893fs	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	933					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CACTGAAAACTTTTTTTCCCA	0.383													-	97620979	T	-	97620979	7	5	273	1	0	1	0	1	0	0	0	0	2342	1606	56	0	960	0	C6orf167	6	97620979	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	9654155	97620979	73494088	656	137953											
PRDM13	59336	broad.mit.edu	37	chr6	100061025	100061025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggcggcgccttcctgCaccacgaacacgcggctcgc	14	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:100061025C>T	uc003pqg.1	+	4	775	c.514C>T	c.(514-516)CAC>TAC	p.H172Y		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CGCCTTCCTGCACCACGAACA	0.667													T	100061025	C	T	100061025	3	4	273	1	0	0	0	0	1	0	0	0	12454	710	25	2	528	2	PRDM13	6	100061025	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2440046	100061025	71054042	657	137954											
BEND3	57673	broad.mit.edu	37	chr6	107391602	107391603	+	Frame_Shift_Ins	INS	-	-	C													agcaagcggcaggccaggtcINScccccctgacaggctctggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:107391601_107391602T>TC	uc003prs.2	-	4	1443_1444	c.793_794A>GA	c.(793-795)gacfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	265	BEN 1.							p.D265fs*54(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCAGGCCAGGTCCCCCCCTGAC	0.653													C	107391603	-	C	107391602	7	5	273	1	0	1	1	0	0	0	0	0	1399	855	30	0	1697	0	BEND3	6	107391602	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	7330577	107391602	63723465	658	137955											
LACE1	246269	broad.mit.edu	37	chr6	108677980	108677980	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatagctcccatagccgaaGaaatcagcgaagaagcatgt	9	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:108677980G>T	uc003psj.2	+	5	790	c.604G>T	c.(604-606)GAA>TAA	p.E202*		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	202							ATP binding			central_nervous_system(1)	1		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)		CATAGCCGAAGAAATCAGCGA	0.358													T	108677980	G	T	108677980	4	4	273	1	0	0	0	0	0	1	0	0	8595	943	33	5	622	5	LACE1	6	108677980	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1286378	108677980	62437087	659	137956											
CDC40	51362	broad.mit.edu	37	chr6	110550125	110550125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaataagaaaaaaatttttaAgggccatatggtagcaggct	9	4	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:110550125A>G	uc003pua.2	+	14	1532	c.1508A>G	c.(1507-1509)AAG>AGG	p.K503R		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	503					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		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)		AAAATTTTTAAGGGCCATATG	0.338													G	110550125	A	G	110550125	3	3	273	1	0	0	0	0	1	0	0	0	3070	72	3	3	1562	3	CDC40	6	110550125	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1872145	110550125	60564942	660	137957											
KIAA1919	91749	broad.mit.edu	37	chr6	111587480	111587480	+	Frame_Shift_Del	DEL	T	T	-													gtctcctttttctgttcttcTttttttatgttggagctgag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:111587480delT	uc003puv.3	+	4	1137	c.715delT	c.(715-717)TTTfs	p.F239fs		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	239	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TCTGTTCTTCTTTTTTTATGT	0.403													-	111587480	T	-	111587480	7	5	273	1	0	1	0	1	0	0	0	0	8262	1609	56	0	729	0	KIAA1919	6	111587480	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1037355	111587480	59527587	661	137958											
REV3L	5980	broad.mit.edu	37	chr6	111632452	111632452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatagcagctttagagaaCgctcaagtatcttaaaacaa	6	8	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:111632452C>T	uc003puy.3	-	29	8938	c.8615G>A	c.(8614-8616)CGT>CAT	p.R2872H	REV3L_uc003pux.3_Missense_Mutation_p.R2794H|REV3L_uc003puz.3_Missense_Mutation_p.R2794H|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2872					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CTTTAGAGAACGCTCAAGTAT	0.328								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111632452	C	T	111632452	3	4	273	1	0	0	0	0	1	0	0	0	13240	536	19	1	793	1	REV3L	6	111632452	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	44972	111632452	59482615	662	137959											
REV3L	5980	broad.mit.edu	37	chr6	111726819	111726819	+	Frame_Shift_Del	DEL	A	A	-													tcattatggctccgctttgcAaaagttcacatatcctaaat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:111726819delA	uc003puy.3	-	4	742	c.419delT	c.(418-420)TTGfs	p.L140fs	REV3L_uc003pux.3_Frame_Shift_Del_p.L62fs|REV3L_uc003puz.3_Frame_Shift_Del_p.L62fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	140					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		TCCGCTTTGCAAAAGTTCACA	0.303								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					-	111726819	A	-	111726819	7	5	273	1	0	1	0	1	0	0	0	0	13240	131	5	0	9089	0	REV3L	6	111726819	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	94367	111726819	59388248	663	137960											
MCM9	254394	broad.mit.edu	37	chr6	119238766	119238766	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtattcccaaaaatcttcGaattccttttggacctcctc	4	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:119238766G>A	uc003pyh.2	-	5	1127	c.864C>T	c.(862-864)TTC>TTT	p.F288F		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378													A	119238766	G	A	119238766	2	1	273	1	0	0	0	0	0	0	0	1	9394	1049	37	1		1	MCM9	6	119238766	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7511947	119238766	51876301	664	137961											
SAMD3	154075	broad.mit.edu	37	chr6	130467187	130467188	+	Frame_Shift_Ins	INS	-	-	T													ttcatctgtgtaatgtttcaINSttttttcttgcaatacaata							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:130467187_130467188insT	uc003qbv.2	-	11	1488_1489	c.1162_1163insA	c.(1162-1164)ATGfs	p.M388fs	SAMD3_uc003qbx.2_Frame_Shift_Ins_p.M388fs|SAMD3_uc003qbw.2_Frame_Shift_Ins_p.M388fs	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	388										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTAATGTTTCATTTTTTCTTGC	0.302													T	130467188	-	T	130467187	7	5	273	1	0	1	1	0	0	0	0	0	13820	217	8	0	411	0	SAMD3	6	130467187	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	11228421	130467187	40647880	665	137962	725	2									
SAMD3	154075	broad.mit.edu	37	chr6	130467188	130467189	+	Frame_Shift_Ins	INS	-	-	T													tcatctgtgtaatgtttcatINStttttcttgcaatacaatat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:130467187_130467188A>AT	uc003qbw.3	-	9	1490_1491	c.1162_1163T>AT	c.(1162-1164)atgfs	p.M388fs	SAMD3_uc003qbx.3_Frame_Shift_Ins_p.M388fs	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	388										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)		GTAATGTTTCATTTTTTCTTGC	0.302													T	130467189	-	T	130467188	7	5	273	1	0	1	1	0	0	0	0	0	13820	1493	52	0	412	0	SAMD3	6	130467188	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	130467188	40647879	666	137963	725	2									
ENPP3	5169	broad.mit.edu	37	chr6	132014691	132014691	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcctgatttgccaaagCgactgcactatgccaagaac	8	12	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:132014691C>T	uc003qcu.3	+	16	1686	c.1339C>T	c.(1339-1341)CGA>TGA	p.R447*	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Nonsense_Mutation_p.R447*	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	447	Extracellular (Potential).|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			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTGCCAAAGCGACTGCACTA	0.393													T	132014691	C	T	132014691	4	4	273	1	0	0	0	0	0	1	0	0	5131	760	27	1	1397	1	ENPP3	6	132014691	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1547503	132014691	39100376	667	137964											
VNN1	8876	broad.mit.edu	37	chr6	133005621	133005621	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtttaaattagtcgtTttacatttcaacagggtaca	7	6	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:133005621T>C	uc003qdo.2	-	6	1232	c.1212A>G	c.(1210-1212)AAA>AAG	p.K404K	VNN1_uc003qdn.2_RNA	NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	404					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			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AATTAGTCGTTTTACATTTCA	0.318													C	133005621	T	C	133005621	2	2	273	1	0	0	0	0	0	0	0	1	17179	1838	64	3		3	VNN1	6	133005621	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	990930	133005621	38109446	668	137965											
SLC2A12	154091	broad.mit.edu	37	chr6	134323146	134323146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacttacacttttgctagCtccattgatatttgttccaa	4	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:134323146C>T	uc003qem.1	-	4	1860	c.1689G>A	c.(1687-1689)GAG>GAA	p.E563E		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	563	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CTTTTGCTAGCTCCATTGATA	0.333													T	134323146	C	T	134323146	2	4	273	1	0	0	0	0	0	0	0	1	14541	796	28	2		2	SLC2A12	6	134323146	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1317525	134323146	36791921	669	137966											
TXLNB	167838	broad.mit.edu	37	chr6	139569028	139569028	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctggaattcttcaaaccTtcctgagtagagagtgagct	10	9	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:139569028T>G	uc011eds.1	-	8	1261	c.1096A>C	c.(1096-1098)AGG>CGG	p.R366R		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	366						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCTTCAAACCTTCCTGAGTAG	0.378													G	139569028	T	G	139569028	2	3	273	1	0	0	0	0	0	0	0	1	16785	1608	56	5		5	TXLNB	6	139569028	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	5245882	139569028	31546039	670	137967											
LTV1	84946	broad.mit.edu	37	chr6	144184652	144184652	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagaatgttgagggTctaaagctatagacagtgga	13	3	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:144184652T>A	uc003qjs.2	+	11	1523	c.1416T>A	c.(1414-1416)GGT>GGA	p.G472G	C6orf94_uc010khj.2_Intron|C6orf94_uc010khk.2_5'Flank|C6orf94_uc011edy.1_5'Flank	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	472	Potential.									ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ATGTTGAGGGTCTAAAGCTAT	0.398													A	144184652	T	A	144184652	2	1	273	1	0	0	0	0	0	0	0	1	9081	1654	58	5		5	LTV1	6	144184652	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4615624	144184652	26930415	671	137968											
SHPRH	257218	broad.mit.edu	37	chr6	146264834	146264835	+	In_Frame_Ins	INS	-	-	ATC													tataataataatagtaaggaINStcatcatcatcatcagaggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:146264833_146264834G>GATC	uc003qlf.3	-	8	2082_2083	c.1683_1684C>GATC	c.(1681-1686)gatcct>gaGATCct	p.561_562DP>EI	SHPRH_uc003qle.3_In_Frame_Ins_p.561_562DP>EI|SHPRH_uc003qlg.1_In_Frame_Ins_p.117_118DP>EI|SHPRH_uc003qlj.1_In_Frame_Ins_p.450_451DP>EI	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	561					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)		TAATAGTAAGGATCATCATCAT	0.361													ATC	146264835	-	ATC	146264834	7	5	273	1	0	1	1	0	0	0	0	0	14291	330	12	0	3500	0	SHPRH	6	146264834	In_Frame_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2080182	146264834	24850233	672	137969											
GRM1	2911	broad.mit.edu	37	chr6	146720131	146720131	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactctcattgccaaaccTactaccacctcctgctacct	2	18	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:146720131T>C	uc010khw.1	+	8	2426	c.1956T>C	c.(1954-1956)CCT>CCC	p.P652P	GRM1_uc010khv.1_Silent_p.P652P|GRM1_uc003qll.2_Silent_p.P652P|GRM1_uc011edz.1_Silent_p.P652P|GRM1_uc011eea.1_Silent_p.P652P	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	652	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTGCCAAACCTACTACCACCT	0.517													C	146720131	T	C	146720131	2	2	273	1	0	0	0	0	0	0	0	1	6796	1509	53	3		3	GRM1	6	146720131	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	455297	146720131	24394936	673	137970											
KATNA1	11104	broad.mit.edu	37	chr6	149953934	149953934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaccagacttctcccTcagaagctggaaggtcatgc	11	12	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:149953934T>C	uc003qmr.1	-	2	326	c.281A>G	c.(280-282)GAG>GGG	p.E94G	KATNA1_uc003qms.2_Missense_Mutation_p.E94G|KATNA1_uc003qmt.2_Missense_Mutation_p.E94G|KATNA1_uc011eed.1_Missense_Mutation_p.E94G	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	94	Interaction with microtubule.				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			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GACTTCTCCCTCAGAAGCTGG	0.418													C	149953934	T	C	149953934	3	2	273	1	0	0	0	0	1	0	0	0	7984	1551	54	3	1230	3	KATNA1	6	149953934	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3233803	149953934	21161133	674	137971											
PCMT1	5110	broad.mit.edu	37	chr6	150071036	150071036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccgagtgtgcttagCgatggcctggaaatccggcg	14	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:150071036C>T	uc003qne.2	+	1	206	c.173C>T	c.(172-174)GCG>GTG	p.A58V	PCMT1_uc003qna.2_Missense_Mutation_p.A58V|PCMT1_uc003qnb.2_Missense_Mutation_p.A58V|PCMT1_uc011eeg.1_Missense_Mutation_p.A58V|PCMT1_uc003qnc.2_5'UTR|PCMT1_uc003qnd.2_Missense_Mutation_p.A58V|PCMT1_uc003qnf.2_Missense_Mutation_p.A58V	NM_005389	NP_005380			protein-L-isoaspartate (D-aspartate)											ovary(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		GTGTGCTTAGCGATGGCCTGG	0.542													T	150071036	C	T	150071036	3	4	273	1	0	0	0	0	1	0	0	0	11585	768	27	1	175	1	PCMT1	6	150071036	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	117102	150071036	21044031	675	137972											
SYNE1	23345	broad.mit.edu	37	chr6	152676066	152676066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctctctggtgtgcagcaCtgagttcaacagggcctgcc	11	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:152676066C>T	uc010kiw.2	-	67	11256	c.10654G>A	c.(10654-10656)GTG>ATG	p.V3552M	SYNE1_uc003qot.3_Missense_Mutation_p.V3559M|SYNE1_uc003qou.3_Missense_Mutation_p.V3552M|SYNE1_uc010kja.1_Missense_Mutation_p.V257M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3552	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTGCAGCACTGAGTTCAAC	0.542										HNSCC(10;0.0054)			T	152676066	C	T	152676066	3	4	273	1	0	0	0	0	1	0	0	0	15442	565	20	4	16132	4	SYNE1	6	152676066	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2605030	152676066	18439001	676	137973											
SYNE1	23345	broad.mit.edu	37	chr6	152690137	152690137	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagcgctagatactgAgaagacagctgcgacactct	10	10	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:152690137A>C	uc010kiw.2	-	61	10379	c.9777T>G	c.(9775-9777)TCT>TCG	p.S3259S	SYNE1_uc003qot.3_Silent_p.S3266S|SYNE1_uc003qou.3_Silent_p.S3259S|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Silent_p.S337S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3259	Spectrin 6.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGATACTGAGAAGACAGCT	0.507										HNSCC(10;0.0054)			C	152690137	A	C	152690137	2	2	273	1	0	0	0	0	0	0	0	1	15442	291	11	5		5	SYNE1	6	152690137	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	14071	152690137	18424930	677	137974											
FBXO5	26271	broad.mit.edu	37	chr6	153296041	153296041	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatattcaaaacagtacttaCttgattaagtccatgtcact	4	8	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:153296041C>A	uc003qpg.2	-	2	927	c.818_splice	c.e2+1	p.N273_splice	FBXO5_uc003qph.2_Splice_Site_p.N227_splice	NM_012177	NP_036309	Q9UKT4	FBX5_HUMAN	F-box only protein 5 isoform a						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACAGTACTTACTTGATTAAGT	0.378													A	153296041	C	A	153296041	5	1	273	1	0	0	0	0	0	0	1	0	5758	579	20	5	540	5	FBXO5	6	153296041	Splice_Site	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	605904	153296041	17819026	678	137975											
RSPH3	83861	broad.mit.edu	37	chr6	159420643	159420643	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagcaggtgggcgctaaGgtgttgtgggacccggagag	19	6	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:159420643G>T	uc003qrx.2	-	1	556	c.366C>A	c.(364-366)ACC>ACA	p.T122T	RSPH3_uc010kju.2_Silent_p.T122T|RSPH3_uc003qry.1_Silent_p.T122T	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	122										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGGGCGCTAAGGTGTTGTGGG	0.642													T	159420643	G	T	159420643	2	4	273	1	0	0	0	0	0	0	0	1	13705	987	35	5		5	RSPH3	6	159420643	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6124602	159420643	11694424	679	137976											
PDE10A	10846	broad.mit.edu	37	chr6	165844963	165844963	+	Splice_Site	DEL	A	A	-													aagatttgctgttgcaacctAaaaaaaacaagaaatacata							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				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)	TGTTGCAACCTAAAAAAAACA	0.328													-	165844963	A	-	165844963	8	5	273	1	0	1	0	1	0	0	1	0	11630	377	13	0		0	PDE10A	6	165844963	Splice_Site	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	6424320	165844963	5270104	680	137977											
RPS6KA2	6196	broad.mit.edu	37	chr6	166952165	166952165	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaacttacctttccataGgatccttgtcctaaaacctt	5	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:166952165G>T	uc003qvb.1	-	2	426	c.207C>A	c.(205-207)TCC>TCA	p.S69S	RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Silent_p.S77S|RPS6KA2_uc003qvd.1_Silent_p.S94S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	69	ATP (By similarity).|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			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		CCTTTCCATAGGATCCTTGTC	0.512													T	166952165	G	T	166952165	2	4	273	1	0	0	0	0	0	0	0	1	13651	987	35	5		5	RPS6KA2	6	166952165	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1107202	166952165	4162902	681	137978											
DLL1	28514	broad.mit.edu	37	chr6	170592536	170592536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttggtgttcttgatctGcgtggccccgatgatgctga	13	9	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:170592536G>A	uc003qxm.2	-	9	2301	c.1831C>T	c.(1831-1833)CAG>TAG	p.Q611*		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	611	Cytoplasmic (Potential).				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			lung(4)|ovary(1)	5		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)		TTCTTGATCTGCGTGGCCCCG	0.617													A	170592536	G	A	170592536	4	1	273	1	0	0	0	0	0	1	0	0	4566	1328	46	2	352	2	DLL1	6	170592536	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3640371	170592536	522531	682	137979											
TMEM184A	202915	broad.mit.edu	37	chr7	1587535	1587535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgctggtctccacctcCgggatgaccccgcaccgctc	10	21	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:1587535C>T	uc003skv.3	-	8	1172	c.855G>A	c.(853-855)CCG>CCA	p.P285P	TMEM184A_uc003skt.3_Silent_p.P264P|TMEM184A_uc003skw.3_Silent_p.P90P	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	285						integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TCTCCACCTCCGGGATGACCC	0.701													T	1587535	C	T	1587535	2	4	273	1	0	0	0	0	0	0	0	1	16101	639	23	1		1	TMEM184A	7	1587535	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08		1587535	157551128	683	137980											
C7orf27	221927	broad.mit.edu	37	chr7	2577869	2577869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacagcctcaggctccTggtcccctgggggctgggcc	14	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:2577869T>C	uc003smi.2	-	14	2342	c.2300A>G	c.(2299-2301)CAG>CGG	p.Q767R	C7orf27_uc003smh.3_Missense_Mutation_p.Q199R	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	767					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CTCAGGCTCCTGGTCCCCTGG	0.716													C	2577869	T	C	2577869	3	2	273	1	0	0	0	0	1	0	0	0	2382	1580	55	3	169	3	C7orf27	7	2577869	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	990334	2577869	156560794	684	137981											
SDK1	221935	broad.mit.edu	37	chr7	4050672	4050672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgagtggcctgactccgGctcgtacctatcaattccgg	11	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4050672G>A	uc003smx.2	+	15	2345	c.2206G>A	c.(2206-2208)GCT>ACT	p.A736T	SDK1_uc010kso.2_Missense_Mutation_p.A12T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	736	Fibronectin type-III 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CCTGACTCCGGCTCGTACCTA	0.577													A	4050672	G	A	4050672	3	1	273	1	0	0	0	0	1	0	0	0	13968	1203	42	2	2264	2	SDK1	7	4050672	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1472803	4050672	155087991	685	137982											
SDK1	221935	broad.mit.edu	37	chr7	4169604	4169604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgtgcgagggaaccacaCgcagtcggccctgctggcag	14	14	0	0	rs140791078		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4169604C>T	uc003smx.2	+	27	4143	c.4004C>T	c.(4003-4005)ACG>ATG	p.T1335M	SDK1_uc010kso.2_Missense_Mutation_p.T611M|SDK1_uc003smy.2_Translation_Start_Site	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1335	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GGGAACCACACGCAGTCGGCC	0.652													T	4169604	C	T	4169604	3	4	273	1	0	0	0	0	1	0	0	0	13968	536	19	1	4110	1	SDK1	7	4169604	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	118932	4169604	154969059	686	137983											
SDK1	221935	broad.mit.edu	37	chr7	4218216	4218216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtctttgtcggcgaggCtggtaagctccgtgcacccc	15	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4218216C>T	uc003smx.2	+	35	5235	c.5096C>T	c.(5095-5097)GCT>GTT	p.A1699V	SDK1_uc010kso.2_Missense_Mutation_p.A955V|SDK1_uc003smy.2_Missense_Mutation_p.A186V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1699					cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GTCGGCGAGGCTGGTAAGCTC	0.622													T	4218216	C	T	4218216	3	4	273	1	0	0	0	0	1	0	0	0	13968	797	28	2	5234	2	SDK1	7	4218216	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	48612	4218216	154920447	687	137984											
KIAA0415	9907	broad.mit.edu	37	chr7	4821214	4821214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggctggagaagacatgCgtagacctgctgcaggccac	13	12	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4821214C>T	uc003sne.2	+	3	278	c.195C>T	c.(193-195)TGC>TGT	p.C65C	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	65					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		AGAAGACATGCGTAGACCTGC	0.682													T	4821214	C	T	4821214	2	4	273	1	0	0	0	0	0	0	0	1	8175	776	27	1		1	KIAA0415	7	4821214	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	602998	4821214	154317449	688	137985											
MMD2	221938	broad.mit.edu	37	chr7	4947179	4947179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagaagaccatgcccaGgcagtagaagacccctccgg	11	13	0	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4947179G>T	uc003sno.3	-	7	857	c.661C>A	c.(661-663)CTG>ATG	p.L221M	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.L197M|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	221	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ACCATGCCCAGGCAGTAGAAG	0.587													T	4947179	G	T	4947179	3	4	273	1	0	0	0	0	1	0	0	0	9644	991	35	5	155	5	MMD2	7	4947179	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	125965	4947179	154191484	689	137986											
FBXL18	80028	broad.mit.edu	37	chr7	5541068	5541068	+	Missense_Mutation	SNP	C	C	T													gtccaggaggttcttggtggCgccgctctccgcgaagctgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:5541068C>T	uc003soo.2	-	3	926	c.832G>A	c.(832-834)GCC>ACC	p.A278T	FBXL18_uc003son.3_Missense_Mutation_p.A278T	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	278										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTCTTGGTGGCGCCGCTCTCC	0.642													T	5541068	C	T	5541068	3	4	273	1	0	0	0	0	1	0	0	0	5714	768	27	1	1336	1	FBXL18	7	5541068	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	593889	5541068	153597595	690	137987	726	2									
FBXL18	80028	broad.mit.edu	37	chr7	5541070	5541070	+	Missense_Mutation	SNP	C	C	G													ccaggaggttcttggtggcgCcgctctccgcgaagctgcca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:5541070C>G	uc003soo.2	-	3	924	c.830G>C	c.(829-831)GGC>GCC	p.G277A	FBXL18_uc003son.3_Missense_Mutation_p.G277A	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	277										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTTGGTGGCGCCGCTCTCCGC	0.647													G	5541070	C	G	5541070	3	3	273	1	0	0	0	0	1	0	0	0	5714	739	26	5	1338	5	FBXL18	7	5541070	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2	5541070	153597593	691	137988	726	2									
ACTB	60	broad.mit.edu	37	chr7	5568907	5568915	+	In_Frame_Del	DEL	TCCATGTCG	TCCATGTCG	-													aggtgtggtgccagattttcTccatgtcgtcccagttggtg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:5568907_5568915delTCCATGTCG	uc003sos.3	-	2	276_284	c.240_248delCGACATGGA	c.(238-249)GACGACATGGAG>GAG	p.DDM80del	ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_In_Frame_Del_p.DDM80del|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	80_82					'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				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CCAGATTTTCTCCATGTCGTCCCAGTTGG	0.612													-	5568915	TCCATGTCG	-	5568907	7	5	273	1	0	1	0	1	0	0	0	0	193	1551	54	0	895	0	ACTB	7	5568907	In_Frame_Del	DEL	TCCATGTCG	TCGA-HU-A4GT-01A-21D-A25D-08	27837	5568907	153569756	692	137989											
AIMP2	7965	broad.mit.edu	37	chr7	6063002	6063002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgaagggaacattgcaCgtttcttgttctctctgttt	10	8	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:6063002C>T	uc003spo.2	+	4	756	c.643C>T	c.(643-645)CGT>TGT	p.R215C	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	215	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						GAACATTGCACGTTTCTTGTT	0.458													T	6063002	C	T	6063002	3	4	273	1	0	0	0	0	1	0	0	0	434	536	19	1	657	1	AIMP2	7	6063002	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	494095	6063002	153075661	693	137990											
USP42	84132	broad.mit.edu	37	chr7	6193579	6193579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccatggccgtcgccccCgaggagcctccgcccagcgc	14	19	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:6193579C>T	uc011jwo.1	+	15	2517	c.2394C>T	c.(2392-2394)CCC>CCT	p.P798P	USP42_uc011jwp.1_Silent_p.P798P|USP42_uc011jwq.1_Silent_p.P605P|USP42_uc011jwr.1_Silent_p.P643P	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	798	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCGTCGCCCCCGAGGAGCCTC	0.721													T	6193579	C	T	6193579	2	4	273	1	0	0	0	0	0	0	0	1	17070	639	23	1		1	USP42	7	6193579	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	130577	6193579	152945084	694	137991											
THSD7A	221981	broad.mit.edu	37	chr7	11445994	11445994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctataatgagttcaatGtcagcacagaattcctcatc	5	11	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:11445994G>A	uc003ssf.3	-	21	4422	c.4170C>T	c.(4168-4170)GAC>GAT	p.D1390D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1390	TSP type-1 14.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGAGTTCAATGTCAGCACAGA	0.428										HNSCC(18;0.044)			A	11445994	G	A	11445994	2	1	273	1	0	0	0	0	0	0	0	1	15876	1368	48	4		4	THSD7A	7	11445994	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5252415	11445994	147692669	695	137992											
THSD7A	221981	broad.mit.edu	37	chr7	11464332	11464332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgtcttacctcacttttCgggtttgcacgccctctcca	6	15	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:11464332C>T	uc003ssf.3	-	15	3626	c.3374G>A	c.(3373-3375)CGA>CAA	p.R1125Q		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1125	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCACTTTTCGGGTTTGCAC	0.483										HNSCC(18;0.044)			T	11464332	C	T	11464332	3	4	273	1	0	0	0	0	1	0	0	0	15876	884	31	1	1651	1	THSD7A	7	11464332	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	18338	11464332	147674331	696	137993											
MEOX2	4223	broad.mit.edu	37	chr7	15725656	15725656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttggagcacaggacgggCgggctgctccccaactctgg	16	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:15725656C>T	uc003stc.2	-	1	653	c.372G>A	c.(370-372)CCG>CCA	p.P124P	MEOX2_uc011jxw.1_Silent_p.P124P	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	124					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ACAGGACGGGCGGGCTGCTCC	0.716													T	15725656	C	T	15725656	2	4	273	1	0	0	0	0	0	0	0	1	9474	755	27	1		1	MEOX2	7	15725656	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4261324	15725656	143413007	697	137994											
TWIST1	7291	broad.mit.edu	37	chr7	19156656	19156656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagactgcggactcccgcCgccgctgctgctgccgccgc	13	18	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:19156656C>T	uc003sum.2	-	1	640	c.289G>A	c.(289-291)GGC>AGC	p.G97S		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	97	Gly-rich.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						GGACTCccgccgccgctgctg	0.512									Saethre-Chotzen_syndrome				T	19156656	C	T	19156656	3	4	273	1	0	0	0	0	1	0	0	0	16780	652	23	1	323	1	TWIST1	7	19156656	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3431000	19156656	139982007	698	137995											
ABCB5	340273	broad.mit.edu	37	chr7	20767944	20767944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtacattccagaaatacCtcgaagaaagcacagattat	6	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:20767944C>T	uc003suw.3	+	14	1944	c.1398C>T	c.(1396-1398)ACC>ACT	p.T466T	ABCB5_uc010kuh.2_Silent_p.T911T|ABCB5_uc003sux.1_Silent_p.T89T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	466	Cytoplasmic (Potential).|ABC transmembrane type-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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CCAGAAATACCTCGAAGAAAG	0.348													T	20767944	C	T	20767944	2	4	273	1	0	0	0	0	0	0	0	1	44	668	24	4		4	ABCB5	7	20767944	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1611288	20767944	138370719	699	137996											
DNAH11	8701	broad.mit.edu	37	chr7	21805081	21805082	+	Frame_Shift_Del	DEL	GA	GA	-													tctccagttggtcgcacgctGagagttagagctcggaagtt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:21805081_21805082delGA	uc003svc.2	+	56	9028_9029	c.8997_8998delGA	c.(8995-9000)CTGAGAfs	p.L2999fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2999_3000	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GTCGCACGCTGAGAGTTAGAGC	0.525									Kartagener_syndrome				-	21805082	GA	-	21805081	7	5	273	1	0	1	0	1	0	0	0	0	4599	1277	45	0	9216	0	DNAH11	7	21805081	Frame_Shift_Del	DEL	GA	TCGA-HU-A4GT-01A-21D-A25D-08	1037137	21805081	137333582	700	137997											
CDCA7L	55536	broad.mit.edu	37	chr7	21985416	21985416	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtagcgagtcgccaActccattcttcctaaccggg	9	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:21985416A>G	uc010kuk.2	-	1	127	c.7T>C	c.(7-9)TTG>CTG	p.L3L	CDCA7L_uc003sve.3_5'UTR|CDCA7L_uc010kul.2_Silent_p.L3L|CDCA7L_uc003svf.3_Silent_p.L3L|CDCA7L_uc011jyk.1_Silent_p.L3L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	3					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CGAGTCGCCAACTCCATTCTT	0.706													G	21985416	A	G	21985416	2	3	273	1	0	0	0	0	0	0	0	1	3091	40	2	3		3	CDCA7L	7	21985416	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	180335	21985416	137153247	701	137998											
IGF2BP3	10643	broad.mit.edu	37	chr7	23352017	23352017	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtggtccactttgcagAgccttctgttgttggtgctg	14	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:23352017A>T	uc003swg.2	-	15	1970	c.1704T>A	c.(1702-1704)GCT>GCA	p.A568A	IGF2BP3_uc003swf.2_Silent_p.A187A	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	568					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			ovary(2)	2						CACTTTGCAGAGCCTTCTGTT	0.458													T	23352017	A	T	23352017	2	4	273	1	0	0	0	0	0	0	0	1	7575	291	11	5		5	IGF2BP3	7	23352017	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1366601	23352017	135786646	702	137999											
TRIL	9865	broad.mit.edu	37	chr7	28996376	28996376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccgtgggtaggggctgCcgcctgcggtcagcggtcag	20	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:28996376C>T	uc003szt.2	-	3	1654	c.1287G>A	c.(1285-1287)CGG>CGA	p.R429R	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	429	Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GTAGGGGCTGCCGCCTGCGGT	0.667													T	28996376	C	T	28996376	2	4	273	1	0	0	0	0	0	0	0	1	16482	726	26	2		2	TRIL	7	28996376	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5644359	28996376	130142287	703	138000											
NOD1	10392	broad.mit.edu	37	chr7	30492472	30492472	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcattgaggatgccggtGgtgtggtccaggaggcaggc	18	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:30492472G>T	uc003tav.2	-	6	1084	c.561C>A	c.(559-561)ACC>ACA	p.T187T	NOD1_uc010kvs.2_Silent_p.T187T	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	187					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			ovary(1)|skin(1)	2						GGATGCCGGTGGTGTGGTCCA	0.602													T	30492472	G	T	30492472	2	4	273	1	0	0	0	0	0	0	0	1	10516	1335	47	5		5	NOD1	7	30492472	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1496096	30492472	128646191	704	138001											
NOD1	10392	broad.mit.edu	37	chr7	30492520	30492520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgcccaggctctcAttgctgaagccaaccagctc	9	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:30492520A>G	uc003tav.2	-	6	1036	c.513T>C	c.(511-513)AAT>AAC	p.N171N	NOD1_uc010kvs.2_Silent_p.N171N	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	171					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			ovary(1)|skin(1)	2						CCAGGCTCTCATTGCTGAAGC	0.587													G	30492520	A	G	30492520	2	3	273	1	0	0	0	0	0	0	0	1	10516	214	8	3		3	NOD1	7	30492520	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	48	30492520	128646143	705	138002											
CRHR2	1395	broad.mit.edu	37	chr7	30695543	30695543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggaccccctcacatacCtgtactggattgtctcggat	9	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:30695543C>A	uc003tbn.2	-	9	1161	c.917G>T	c.(916-918)AGG>ATG	p.R306M	CRHR2_uc010kvw.1_Missense_Mutation_p.R306M|CRHR2_uc010kvx.1_Missense_Mutation_p.R305M|CRHR2_uc010kvy.1_Missense_Mutation_p.R142M|CRHR2_uc003tbo.2_Missense_Mutation_p.R292M|CRHR2_uc003tbp.2_Missense_Mutation_p.R333M	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	306	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						CCTCACATACCTGTACTGGAT	0.582													A	30695543	C	A	30695543	3	1	273	1	0	0	0	0	1	0	0	0	3872	695	24	5	334	5	CRHR2	7	30695543	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	203023	30695543	128443120	706	138003											
SEPT7	989	broad.mit.edu	37	chr7	35913333	35913333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaacagacgtcagatgCctgataacagggtgcagtgt	14	7	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:35913333C>T	uc010kxc.2	+	5	653	c.460C>T	c.(460-462)CCT>TCT	p.P154S	SEPT7_uc011kat.1_Missense_Mutation_p.P153S|SEPT7_uc011kau.1_Missense_Mutation_p.P118S|SEPT7_uc011kav.1_Missense_Mutation_p.P101S|SEPT7_uc003tey.2_Missense_Mutation_p.P2S	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	cell division cycle 10 isoform 1	154					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				0						ACGTCAGATGCCTGATAACAG	0.403													T	35913333	C	T	35913333	3	4	273	1	0	0	0	0	1	0	0	0	14069	739	26	2	476	2	SEPT7	7	35913333	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5217790	35913333	123225330	707	138004											
EEPD1	80820	broad.mit.edu	37	chr7	36193947	36193947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggaccatggggagcacccTgggctgccaccgctccatcc	13	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:36193947T>C	uc003tfa.2	+	2	654	c.14T>C	c.(13-15)CTG>CCG	p.L5P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	5					DNA repair		DNA binding				0						GGGAGCACCCTGGGCTGCCAC	0.627													C	36193947	T	C	36193947	3	2	273	1	0	0	0	0	1	0	0	0	4932	1580	55	3	16	3	EEPD1	7	36193947	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	280614	36193947	122944716	708	138005											
INHBA	3624	broad.mit.edu	37	chr7	41729727	41729727	+	Frame_Shift_Del	DEL	C	C	-													tccgcccttctttttcccttCcccctcctcttctttcttct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:41729727delC	uc003thq.2	-	2	1037	c.802delG	c.(802-804)GAAfs	p.E268fs	INHBA_uc003thr.2_Frame_Shift_Del_p.E268fs	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	268					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			lung(5)|ovary(1)	6						tttttcccttccccctcctct	0.353										TSP Lung(11;0.080)			-	41729727	C	-	41729727	7	5	273	1	0	1	0	1	0	0	0	0	7741	864	30	0	482	0	INHBA	7	41729727	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	5535780	41729727	117408936	709	138006											
HECW1	23072	broad.mit.edu	37	chr7	43506151	43506151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccccgagttcttcactgTgctacatgccaattatgtga	7	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43506151T>C	uc003tid.1	+	15	3502	c.2897T>C	c.(2896-2898)GTG>GCG	p.V966A	HECW1_uc011kbi.1_Missense_Mutation_p.V932A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	966					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TTCTTCACTGTGCTACATGCC	0.493													C	43506151	T	C	43506151	3	2	273	1	0	0	0	0	1	0	0	0	7042	1696	59	3	2947	3	HECW1	7	43506151	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1776424	43506151	115632512	710	138007											
HECW1	23072	broad.mit.edu	37	chr7	43590143	43590143	+	Missense_Mutation	SNP	C	C	T													tggtgaagtggcgggtggagCgcggcgtggtacagcagacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43590143C>T	uc003tid.1	+	27	4953	c.4348C>T	c.(4348-4350)CGC>TGC	p.R1450C	HECW1_uc011kbi.1_Missense_Mutation_p.R1416C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1450	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCGGGTGGAGCGCGGCGTGGT	0.627													T	43590143	C	T	43590143	3	4	273	1	0	0	0	0	1	0	0	0	7042	768	27	1	4446	1	HECW1	7	43590143	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	83992	43590143	115548520	711	138008	727	2									
HECW1	23072	broad.mit.edu	37	chr7	43590149	43590149	+	Missense_Mutation	SNP	G	G	A													agtggcgggtggagcgcggcGtggtacagcagaccgaggcg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43590149G>A	uc003tid.1	+	27	4959	c.4354G>A	c.(4354-4356)GTG>ATG	p.V1452M	HECW1_uc011kbi.1_Missense_Mutation_p.V1418M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1452	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGAGCGCGGCGTGGTACAGCA	0.632													A	43590149	G	A	43590149	3	1	273	1	0	0	0	0	1	0	0	0	7042	1145	40	1	4452	1	HECW1	7	43590149	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6	43590149	115548514	712	138009	727	2									
BLVRA	644	broad.mit.edu	37	chr7	43843448	43843448	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagacagagaagaaaaggTaagtcatgagaagccatgag	14	4	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43843448T>C	uc003tir.2	+	7	715	c.632_splice	c.e7+2	p.S211_splice	BLVRA_uc010kxv.2_Splice_Site_p.S211_splice	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor						heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	GAAGAAAAGGTAAGTCATGAG	0.478													C	43843448	T	C	43843448	5	2	273	1	0	0	0	0	0	0	1	0	1451	1652	57	3	656	3	BLVRA	7	43843448	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	253299	43843448	115295215	713	138010											
OGDH	4967	broad.mit.edu	37	chr7	44713507	44713507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcacaaatgaggagaaacGgaccctgctggccaggcttg	13	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:44713507G>A	uc003tln.2	+	6	864	c.755G>A	c.(754-756)CGG>CAG	p.R252Q	OGDH_uc003tlm.2_Missense_Mutation_p.R252Q|OGDH_uc011kbx.1_Missense_Mutation_p.R248Q|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Missense_Mutation_p.R263Q|OGDH_uc011kbz.1_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.R85Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	252					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GAGGAGAAACGGACCCTGCTG	0.577													A	44713507	G	A	44713507	3	1	273	1	0	0	0	0	1	0	0	0	10839	1116	39	1	868	1	OGDH	7	44713507	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	870059	44713507	114425156	714	138011											
ASL	435	broad.mit.edu	37	chr7	65554148	65554148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatccggagcaaggctgggCgtgtgtttgggcgggtgagc	20	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:65554148C>T	uc003tuo.2	+	12	1015	c.904C>T	c.(904-906)CGT>TGT	p.R302C	ASL_uc003tup.2_Missense_Mutation_p.R302C|ASL_uc003tur.2_Missense_Mutation_p.R276C|ASL_uc003tuq.2_Missense_Mutation_p.R302C	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	302					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	CAAGGCTGGGCGTGTGTTTGG	0.682													T	65554148	C	T	65554148	3	4	273	1	0	0	0	0	1	0	0	0	1044	768	27	1	946	1	ASL	7	65554148	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	20840641	65554148	93584515	715	138012											
TYW1	55253	broad.mit.edu	37	chr7	66703392	66703392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggatcaaaaacgttcaGcgcaaaggattatatggcca	11	7	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:66703392G>A	uc003tvn.2	+	16	2224	c.2075G>A	c.(2074-2076)AGC>AAC	p.S692N	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.S306N|PMS2L4_uc003tvo.2_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	692					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAAACGTTCAGCGCAAAGGAT	0.438													A	66703392	G	A	66703392	3	1	273	1	0	0	0	0	1	0	0	0	16815	971	34	2	2137	2	TYW1	7	66703392	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1149244	66703392	92435271	716	138013											
BAZ1B	9031	broad.mit.edu	37	chr7	72892597	72892597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttcaaaggcttgtcActgtgcttccctggtttctt	8	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:72892597A>G	uc003tyc.2	-	7	1539	c.1194T>C	c.(1192-1194)AGT>AGC	p.S398S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	398	Lys-rich.				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			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGGCTTGTCACTGTGCTTCC	0.448													G	72892597	A	G	72892597	2	3	273	1	0	0	0	0	0	0	0	1	1330	156	6	3		3	BAZ1B	7	72892597	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	6189205	72892597	86246066	717	138014											
WBSCR22	114049	broad.mit.edu	37	chr7	73108001	73108001	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacctttataccagaggTgagggacactgggtttgcag	13	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:73108001T>C	uc003tyt.2	+	9	700	c.642_splice	c.e9+2	p.E214_splice	WBSCR22_uc010lbi.1_Splice_Site|WBSCR22_uc003tyu.2_Splice_Site_p.E214_splice|WBSCR22_uc003tyv.2_Splice_Site_p.E176_splice|WBSCR22_uc003tyw.1_Splice_Site_p.E77_splice	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22							nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATACCAGAGGTGAGGGACACT	0.562													C	73108001	T	C	73108001	5	2	273	1	0	0	0	0	0	0	1	0	17262	1710	59	3	678	3	WBSCR22	7	73108001	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	215404	73108001	86030662	718	138015											
WBSCR27	155368	broad.mit.edu	37	chr7	73256349	73256349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccccaaatgagtttaccTggtcgtagtccggagcccag	12	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:73256349T>C	uc003tzj.2	-	2	162	c.122A>G	c.(121-123)CAG>CGG	p.Q41R	RFC2_uc011kfa.1_Intron|WBSCR27_uc011kfd.1_Missense_Mutation_p.Q41R	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Williams-Beuren syndrome chromosome region 27	41										central_nervous_system(1)	1		Lung NSC(55;0.159)				TGAGTTTACCTGGTCGTAGTC	0.438													C	73256349	T	C	73256349	3	2	273	1	0	0	0	0	1	0	0	0	17263	1594	55	3	635	3	WBSCR27	7	73256349	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	148348	73256349	85882314	719	138016											
CLIP2	7461	broad.mit.edu	37	chr7	73790690	73790690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgagctgaaggcagtgatGgagggcatcaagatggagca	18	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:73790690G>T	uc003uam.2	+	10	2286	c.1959G>T	c.(1957-1959)ATG>ATT	p.M653I	CLIP2_uc003uan.2_Missense_Mutation_p.M618I|CLIP2_uc003uao.2_Missense_Mutation_p.M47I	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	653						microtubule associated complex				skin(3)	3						AGGCAGTGATGGAGGGCATCA	0.627													T	73790690	G	T	73790690	3	4	273	1	0	0	0	0	1	0	0	0	3533	1348	47	5	1993	5	CLIP2	7	73790690	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	534341	73790690	85347973	720	138017											
CCDC146	57639	broad.mit.edu	37	chr7	76909865	76909865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaagaaggaagcccAgttaaataacattgacagac	9	6	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:76909865A>G	uc003uga.2	+	14	1941	c.1814A>G	c.(1813-1815)CAG>CGG	p.Q605R	CCDC146_uc010ldp.2_Missense_Mutation_p.Q319R|CCDC146_uc003ugc.2_5'Flank	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	605	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAGGAAGCCCAGTTAAATAAC	0.408													G	76909865	A	G	76909865	3	3	273	1	0	0	0	0	1	0	0	0	2780	188	7	3	1864	3	CCDC146	7	76909865	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3119175	76909865	82228798	721	138018											
MAGI2	9863	broad.mit.edu	37	chr7	77764449	77764449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattcactgctaggatccGgtctcccacttttagttttg	8	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:77764449G>A	uc003ugx.2	-	17	3174	c.2920C>T	c.(2920-2922)CGG>TGG	p.R974W	MAGI2_uc003ugy.2_Missense_Mutation_p.R960W|MAGI2_uc010ldx.1_Missense_Mutation_p.R567W	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	974	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTAGGATCCGGTCTCCCACT	0.483													A	77764449	G	A	77764449	3	1	273	1	0	0	0	0	1	0	0	0	9191	1115	39	1	1471	1	MAGI2	7	77764449	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	854584	77764449	81374214	722	138019											
SEMA3E	9723	broad.mit.edu	37	chr7	83036496	83036496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtaaaaaagaaatataCtttgttgtcatctctgtctt	5	7	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:83036496C>T	uc003uhy.1	-	7	1196	c.730G>A	c.(730-732)GTA>ATA	p.V244I		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	244	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				AAGAAATATACTTTGTTGTCA	0.393													T	83036496	C	T	83036496	3	4	273	1	0	0	0	0	1	0	0	0	14028	565	20	4	1641	4	SEMA3E	7	83036496	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5272047	83036496	76102167	723	138020											
SEMA3E	9723	broad.mit.edu	37	chr7	83119550	83119550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagatcaagaaatccaaaAgggctatgaaatattgatgt	10	4	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:83119550A>G	uc003uhy.1	-	2	622	c.156T>C	c.(154-156)CCT>CCC	p.P52P		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GAAATCCAAAAGGGCTATGAA	0.408													G	83119550	A	G	83119550	2	3	273	1	0	0	0	0	0	0	0	1	14028	59	3	3		3	SEMA3E	7	83119550	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	83054	83119550	76019113	724	138021											
ABCB1	5243	broad.mit.edu	37	chr7	87179212	87179212	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcattggcttccttgacAgctttctcaatctcatccat	6	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:87179212A>C	uc003uiz.1	-	14	1927	c.1509T>G	c.(1507-1509)GCT>GCG	p.A503A	ABCB1_uc011khc.1_Silent_p.A439A	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	503	ABC transporter 1.|Cytoplasmic (Potential).				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			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	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)	CTTCCTTGACAGCTTTCTCAA	0.443													C	87179212	A	C	87179212	2	2	273	1	0	0	0	0	0	0	0	1	40	175	7	5		5	ABCB1	7	87179212	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4059662	87179212	71959451	725	138022											
AKAP9	10142	broad.mit.edu	37	chr7	91645570	91645570	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaattacaagattatagatAtgaagttcaaggtaataaaa	7	2	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:91645570A>T	uc003ulg.2	+	11	3965	c.3740A>T	c.(3739-3741)TAT>TTT	p.Y1247F	AKAP9_uc003ule.2_Missense_Mutation_p.Y1259F|AKAP9_uc003ulf.2_Missense_Mutation_p.Y1247F|AKAP9_uc003uli.2_Missense_Mutation_p.Y872F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1259	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			GATTATAGATATGAAGTTCAA	0.264			T	BRAF	papillary thyroid								T	91645570	A	T	91645570	3	4	273	1	0	0	0	0	1	0	0	0	459	449	16	5	3782	5	AKAP9	7	91645570	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4466358	91645570	67493093	726	138023											
COL1A2	1278	broad.mit.edu	37	chr7	94029571	94029571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggccctcctggtccacctGgtcctcctggcccccctggt	10	20	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:94029571G>T	uc003ung.1	+	5	667	c.196G>T	c.(196-198)GGT>TGT	p.G66C	COL1A2_uc011kib.1_Missense_Mutation_p.G66C	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	66					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)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCACCTGGTCCTCCTGG	0.502										HNSCC(75;0.22)			T	94029571	G	T	94029571	3	4	273	1	0	0	0	0	1	0	0	0	3678	1348	47	5	214	5	COL1A2	7	94029571	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2384001	94029571	65109092	727	138024											
TRRAP	8295	broad.mit.edu	37	chr7	98550975	98550975	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaaggcctgcgtggaCccagcctgcaagtacagcgg	12	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:98550975C>G	uc003upp.2	+	39	5837	c.5628C>G	c.(5626-5628)GAC>GAG	p.D1876E	TRRAP_uc011kis.1_Missense_Mutation_p.D1858E|TRRAP_uc003upr.2_Missense_Mutation_p.D1575E	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1876					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			CCTGCGTGGACCCAGCCTGCA	0.587													G	98550975	C	G	98550975	3	3	273	1	0	0	0	0	1	0	0	0	16598	506	18	5	5720	5	TRRAP	7	98550975	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4521404	98550975	60587688	728	138025											
PTCD1	26024	broad.mit.edu	37	chr7	99032621	99032621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctcctcctcctcctcgTcttcttcctgcgtggccgtg	7	18	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:99032621T>C	uc003uqh.2	-	2	376	c.245A>G	c.(244-246)GAC>GGC	p.D82G	PTCD1_uc011kiw.1_Missense_Mutation_p.D131G	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	82										ovary(1)	1	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)			CTCCTCCTCGTCTTCTTCCTG	0.607													C	99032621	T	C	99032621	3	2	273	1	0	0	0	0	1	0	0	0	12727	1667	58	3	1885	3	PTCD1	7	99032621	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	481646	99032621	60106042	729	138026											
GPC2	221914	broad.mit.edu	37	chr7	99769744	99769744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgcactgttttcctgcaggTacatcaaaccctccgagatc	7	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:99769744T>C	uc003utv.2	-	6	1157	c.989A>G	c.(988-990)TAC>TGC	p.Y330C	GPC2_uc010lgr.2_RNA	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	330						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCCTGCAGGTACATCAAACC	0.597													C	99769744	T	C	99769744	3	2	273	1	0	0	0	0	1	0	0	0	6598	1638	57	3	770	3	GPC2	7	99769744	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	737123	99769744	59368919	730	138027											
PVRIG	79037	broad.mit.edu	37	chr7	99818563	99818563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcaggcaccaagccagGcctcccaggctgctcttcac	10	19	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:99818563G>A	uc003uue.2	+	7	1042	c.670G>A	c.(670-672)GCC>ACC	p.A224T	GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.A224T	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin	224						integral to membrane				skin(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCAAGCCAGGCCTCCCAGGC	0.667													A	99818563	G	A	99818563	3	1	273	1	0	0	0	0	1	0	0	0	12838	1203	42	2	688	2	PVRIG	7	99818563	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	48819	99818563	59320100	731	138028											
C7orf51	222950	broad.mit.edu	37	chr7	100084511	100084511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggggcctggggtccgcGtgcgggacatcgcctcgctg	18	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100084511G>A	uc003uvd.1	+	3	295	c.136G>A	c.(136-138)GTG>ATG	p.V46M	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	46										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGTCCGCGTGCGGGACAT	0.726													A	100084511	G	A	100084511	3	1	273	1	0	0	0	0	1	0	0	0	2400	1145	40	1	142	1	C7orf51	7	100084511	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	265948	100084511	59054152	732	138029											
MOSPD3	64598	broad.mit.edu	37	chr7	100212592	100212592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcccggacgaactcggcaGccagctgcctcaagtcctgc	10	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100212592G>A	uc003uvq.2	+	5	816	c.614G>A	c.(613-615)AGC>AAC	p.S205N	MOSPD3_uc003uvr.2_Missense_Mutation_p.S205N|MOSPD3_uc003uvs.2_Missense_Mutation_p.S205N|MOSPD3_uc003uvt.2_Missense_Mutation_p.S195N	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN	motile sperm domain containing 3 isoform a	205						integral to membrane	structural molecule activity			ovary(2)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAACTCGGCAGCCAGCTGCCT	0.637													A	100212592	G	A	100212592	3	1	273	1	0	0	0	0	1	0	0	0	9717	971	34	2	628	2	MOSPD3	7	100212592	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	128081	100212592	58926071	733	138030											
ZAN	7455	broad.mit.edu	37	chr7	100369551	100369551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtgggaccaagggcgAcaccacagccctgtgccgct	13	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100369551A>G	uc003uwj.2	+	29	5498	c.5333A>G	c.(5332-5334)GAC>GGC	p.D1778G	ZAN_uc003uwk.2_Missense_Mutation_p.D1778G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.D355G|ZAN_uc011kke.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1778	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCAAGGGCGACACCACAGCC	0.637													G	100369551	A	G	100369551	3	3	273	1	0	0	0	0	1	0	0	0	17510	275	10	3	5443	3	ZAN	7	100369551	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	156959	100369551	58769112	734	138031											
TRIP6	7205	broad.mit.edu	37	chr7	100465746	100465746	+	Frame_Shift_Del	DEL	G	G	-													tcaggggctccctgcagacaGggggggccttcgccctggaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100465745_100465745AG>A	uc003uww.3	+	2	423	c.253_253AG>A	c.(253-255)aggfs	p.R85fs	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Frame_Shift_Del_p.R64fs|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	85					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)					CCCTGCAGACAGGGGGGGCCT	0.642													-	100465746	G	-	100465746	7	5	273	1	0	1	0	1	0	0	0	0	16556	1000	35	0	264	0	TRIP6	7	100465746	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	96195	100465746	58672917	735	138032											
ACHE	43	broad.mit.edu	37	chr7	100491090	100491090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccgctctgcagcacggccCtgtggaacaggccccggctg	13	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100491090C>A	uc003uxd.2	-	1	920	c.764G>T	c.(763-765)AGG>ATG	p.R255M	ACHE_uc003uxe.2_Missense_Mutation_p.R255M|ACHE_uc003uxf.2_Missense_Mutation_p.R255M|ACHE_uc003uxg.2_Missense_Mutation_p.R255M|ACHE_uc003uxh.2_Missense_Mutation_p.R255M|ACHE_uc003uxi.2_Missense_Mutation_p.R255M|ACHE_uc003uxj.1_Missense_Mutation_p.R374M	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	255					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CAGCACGGCCCTGTGGAACAG	0.721													A	100491090	C	A	100491090	3	1	273	1	0	0	0	0	1	0	0	0	141	681	24	5	1231	5	ACHE	7	100491090	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	25344	100491090	58647573	736	138033											
ORAI2	80228	broad.mit.edu	37	chr7	102087351	102087351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccatcatcatggtgcCcgtgggcctcatcttcgtgg	11	14	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:102087351C>A	uc010lhz.1	+	4	852	c.617C>A	c.(616-618)CCC>CAC	p.P206H	ORAI2_uc003uzj.2_Missense_Mutation_p.P206H|ORAI2_uc003uzk.2_Missense_Mutation_p.P206H|ORAI2_uc011kks.1_Missense_Mutation_p.P129H	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	206	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|kidney(1)	2						ATCATGGTGCCCGTGGGCCTC	0.667													A	102087351	C	A	102087351	3	1	273	1	0	0	0	0	1	0	0	0	11258	623	22	5	623	5	ORAI2	7	102087351	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1596261	102087351	57051312	737	138034											
LRWD1	222229	broad.mit.edu	37	chr7	102106383	102106383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctgccggacaacctggGcctgtcccacctgcgtgtcc	12	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:102106383G>A	uc003uzn.2	+	2	338	c.200G>A	c.(199-201)GGC>GAC	p.G67D	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	67	LRR 2.				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			skin(1)	1						GACAACCTGGGCCTGTCCCAC	0.632													A	102106383	G	A	102106383	3	1	273	1	0	0	0	0	1	0	0	0	9047	1203	42	2	206	2	LRWD1	7	102106383	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	19032	102106383	57032280	738	138035											
RELN	5649	broad.mit.edu	37	chr7	103123374	103123374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacctgttccattgtggCgtggttgccaccagcgcagt	12	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:103123374C>T	uc003vca.2	-	63	10386	c.10226G>A	c.(10225-10227)CGC>CAC	p.R3409H	RELN_uc010liz.2_Missense_Mutation_p.R3409H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3409					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCATTGTGGCGTGGTTGCCA	0.478													T	103123374	C	T	103123374	3	4	273	1	0	0	0	0	1	0	0	0	13220	768	27	1	168	1	RELN	7	103123374	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1016991	103123374	56015289	739	138036											
LHFPL3	375612	broad.mit.edu	37	chr7	103969331	103969331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtgcggaactcgcgggCcatcggcgtgctgtgggcca	16	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:103969331C>T	uc003vce.2	+	1	228	c.104C>T	c.(103-105)GCC>GTC	p.A35V	LHFPL3_uc003vcf.2_Missense_Mutation_p.A35V	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	21						integral to membrane					0						AACTCGCGGGCCATCGGCGTG	0.527													T	103969331	C	T	103969331	3	4	273	1	0	0	0	0	1	0	0	0	8766	739	26	2	106	2	LHFPL3	7	103969331	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	845957	103969331	55169332	740	138037											
COG5	10466	broad.mit.edu	37	chr7	106876963	106876963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttatgagactggcatggcGgataaaaagttcaacagctc	10	8	2	1	rs149517266	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:106876963G>A	uc003ved.2	-	17	2578	c.2053C>T	c.(2053-2055)CGC>TGC	p.R685C	COG5_uc003vec.2_Missense_Mutation_p.R706C|COG5_uc003vee.2_Missense_Mutation_p.R706C	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	685					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CTGGCATGGCGGATAAAAAGT	0.393													A	106876963	G	A	106876963	3	1	273	1	0	0	0	0	1	0	0	0	3661	1116	39	1	490	1	COG5	7	106876963	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2907632	106876963	52261700	741	138038											
LRRN3	54674	broad.mit.edu	37	chr7	110762969	110762969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacacccagatccatttaTatggaagcatctacagtgga	7	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:110762969T>C	uc003vft.3	+	4	1187	c.141T>C	c.(139-141)TAT>TAC	p.Y47Y	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.Y47Y|LRRN3_uc003vfs.3_Silent_p.Y47Y	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	47	Extracellular (Potential).|LRRNT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		GATCCATTTATATGGAAGCAT	0.393													C	110762969	T	C	110762969	2	2	273	1	0	0	0	0	0	0	0	1	9036	1413	49	3		3	LRRN3	7	110762969	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3886006	110762969	48375694	742	138039											
GPR85	54329	broad.mit.edu	37	chr7	112723847	112723847	+	Frame_Shift_Del	DEL	A	A	-													ggtactacaggccctcttgcAaaaactctccaataacaggc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:112723847delA	uc010ljv.2	-	2	1447	c.930delT	c.(928-930)TTTfs	p.F310fs	GPR85_uc003vgp.1_Frame_Shift_Del_p.F310fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.F310fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.F310fs	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	310	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2						GCCCTCTTGCAAAAACTCTCC	0.433													-	112723847	A	-	112723847	7	5	273	1	0	1	0	1	0	0	0	0	6715	127	5	0	186	0	GPR85	7	112723847	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	1960878	112723847	46414816	743	138040											
TES	26136	broad.mit.edu	37	chr7	115890281	115890281	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagagggggcacagTaccggaagaagcagctggca	16	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:115890281T>A	uc003vho.2	+	4	614	c.433T>A	c.(433-435)TAC>AAC	p.Y145N	TES_uc011kmy.1_Intron|TES_uc003vhp.2_Missense_Mutation_p.Y136N|uc003vhq.1_5'Flank	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	testin isoform 1	145	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GGGGGCACAGTACCGGAAGAA	0.547													A	115890281	T	A	115890281	3	1	273	1	0	0	0	0	1	0	0	0	15762	1638	57	5	447	5	TES	7	115890281	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3166434	115890281	43248382	744	138041											
KCND2	3751	broad.mit.edu	37	chr7	120385856	120385856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgagtttgtggacgaacAagtctttgaagaaagctgca	11	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:120385856A>G	uc003vjj.1	+	5	2455	c.1490A>G	c.(1489-1491)CAA>CGA	p.Q497R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	497	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTGGACGAACAAGTCTTTGAA	0.388													G	120385856	A	G	120385856	3	3	273	1	0	0	0	0	1	0	0	0	8019	130	5	3	1508	3	KCND2	7	120385856	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4495575	120385856	38752807	745	138042											
WNT16	51384	broad.mit.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-													agcaagtgaaggctggcactGggggggctgctccgatgatg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|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 JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537													-	120971879	G	-	120971879	7	5	273	1	0	1	0	1	0	0	0	0	17382	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	586023	120971879	38166784	746	138043											
RNF148	378925	broad.mit.edu	37	chr7	122342486	122342486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaaagtacagcctccacGttcgatgagggccagccatg	11	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:122342486G>A	uc003vkk.1	-	1	536	c.319C>T	c.(319-321)CGT>TGT	p.R107C	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	107	PA.					integral to membrane	zinc ion binding				0						CAGCCTCCACGTTCGATGAGG	0.483													A	122342486	G	A	122342486	3	1	273	1	0	0	0	0	1	0	0	0	13449	1145	40	1	602	1	RNF148	7	122342486	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1370607	122342486	36796177	747	138044											
PAX4	5078	broad.mit.edu	37	chr7	127251690	127251690	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagggacccagtggttccAgggcaggcagggctgctgtg	19	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:127251690A>G	uc010lld.1	-	8	994	c.788T>C	c.(787-789)CTG>CCG	p.L263P	PAX4_uc003vmf.2_Missense_Mutation_p.L261P|PAX4_uc003vmg.1_Missense_Mutation_p.L263P	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	271					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAGTGGTTCCAGGGCAGGCAG	0.562													G	127251690	A	G	127251690	3	3	273	1	0	0	0	0	1	0	0	0	11481	188	7	3	251	3	PAX4	7	127251690	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4909204	127251690	31886973	748	138045											
TNPO3	23534	broad.mit.edu	37	chr7	128658127	128658127	+	Frame_Shift_Del	DEL	T	T	-													aaatgaggtctgaatcttcaTtttcatggtctgtgcagcaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:128658127delT	uc003vol.1	-	2	579	c.205delA	c.(205-207)ATGfs	p.M69fs	TNPO3_uc003vom.1_Frame_Shift_Del_p.M3fs|TNPO3_uc010lly.1_Frame_Shift_Del_p.M69fs|TNPO3_uc010llz.1_Frame_Shift_Del_p.M69fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	69					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						TGAATCTTCATTTTCATGGTC	0.453													-	128658127	T	-	128658127	7	5	273	1	0	1	0	1	0	0	0	0	16334	1493	52	0	2650	0	TNPO3	7	128658127	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1406437	128658127	30480536	749	138046											
CALD1	800	broad.mit.edu	37	chr7	134618718	134618718	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaaaaacatgccatgCaagagacaaagataaaaggg	10	5	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:134618718C>T	uc003vrz.2	+	5	1657	c.1198C>T	c.(1198-1200)CAA>TAA	p.Q400*	CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Nonsense_Mutation_p.Q264*	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	400					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						ACATGCCATGCAAGAGACAAA	0.393													T	134618718	C	T	134618718	4	4	273	1	0	0	0	0	0	1	0	0	2581	711	25	2	1265	2	CALD1	7	134618718	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5960591	134618718	24519945	750	138047											
DENND2A	27147	broad.mit.edu	37	chr7	140223218	140223218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaggatggagtcctcatCgtccatctggaaagcagagg	15	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:140223218C>T	uc010lnj.2	-	15	2699	c.2554G>A	c.(2554-2556)GAT>AAT	p.D852N	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.D852N|DENND2A_uc003vvw.2_Missense_Mutation_p.D852N	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	852										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GAGTCCTCATCGTCCATCTGG	0.607													T	140223218	C	T	140223218	3	4	273	1	0	0	0	0	1	0	0	0	4429	884	31	1	491	1	DENND2A	7	140223218	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5604500	140223218	18915445	751	138048											
EPHA1	2041	broad.mit.edu	37	chr7	143096420	143096420	+	Frame_Shift_Del	DEL	C	C	-													ctcacaggtacagatggtggCcccctcagactcagcagtgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:143096420delC	uc003wcz.2	-	5	1009	c.922delG	c.(922-924)GCCfs	p.A308fs		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	308	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGATGGTGGCCCCCTCAGAC	0.652													-	143096420	C	-	143096420	7	5	273	1	0	1	0	1	0	0	0	0	5165	739	26	0	2064	0	EPHA1	7	143096420	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	2873202	143096420	16042243	752	138049											
OR2A5	393046	broad.mit.edu	37	chr7	143748294	143748294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccaagtcccgccaccCtgaggagcagcagaaggtcc	12	17	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:143748294C>A	uc011ktw.1	+	1	800	c.800C>A	c.(799-801)CCT>CAT	p.P267H		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					TCCCGCCACCCTGAGGAGCAG	0.567													A	143748294	C	A	143748294	3	1	273	1	0	0	0	0	1	0	0	0	10981	681	24	5	802	5	OR2A5	7	143748294	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	651874	143748294	15390369	753	138050											
TPK1	27010	broad.mit.edu	37	chr7	144463016	144463018	+	In_Frame_Del	DEL	AAG	AAG	-													tagttgtccaaaggctgattAagaattacaaggcagtactt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:144463016_144463018delAAG	uc003weq.2	-	3	173_175	c.70_72delCTT	c.(70-72)CTTdel	p.L24del	TPK1_uc003wer.2_In_Frame_Del_p.L24del|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	24					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	AAGGCTGATTAAGAATTACAAGG	0.315													-	144463018	AAG	-	144463016	7	5	273	1	0	1	0	1	0	0	0	0	16401	349	13	0	687	0	TPK1	7	144463016	In_Frame_Del	DEL	AAG	TCGA-HU-A4GT-01A-21D-A25D-08	714722	144463016	14675647	754	138051											
ZNF786	136051	broad.mit.edu	37	chr7	148767912	148767912	+	Frame_Shift_Del	DEL	C	C	-													caaagcccttgccgcactcaCaggagaaaggcatctccccg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:148767912delC	uc003wfh.2	-	4	2089	c.1952delG	c.(1951-1953)TGTfs	p.C651fs	ZNF786_uc011kuk.1_Frame_Shift_Del_p.C614fs|ZNF786_uc003wfi.2_Frame_Shift_Del_p.C565fs	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	651	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCCGCACTCACAGGAGAAAGG	0.572													-	148767912	C	-	148767912	7	5	273	1	0	1	0	1	0	0	0	0	18155	478	17	0	400	0	ZNF786	7	148767912	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	4304896	148767912	10370751	755	138052											
ZNF777	27153	broad.mit.edu	37	chr7	149129956	149129956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagggattgcaagtgctgCggcagctcatcctcctcctc	10	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149129956C>T	uc003wfv.2	-	6	1570	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCAAGTGCTGCGGCAGctcat	0.517													T	149129956	C	T	149129956	2	4	273	1	0	0	0	0	0	0	0	1	18147	755	27	1		1	ZNF777	7	149129956	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	362044	149129956	10008707	756	138053											
ZNF746	155061	broad.mit.edu	37	chr7	149172551	149172551	+	Frame_Shift_Del	DEL	T	T	-													ctcctcttcctggacttctgTttttattacaatttttacat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149172551delT	uc003wfw.2	-	7	1130	c.859delA	c.(859-861)ACAfs	p.T287fs	ZNF746_uc010lpi.2_Frame_Shift_Del_p.T288fs	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	287					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			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGACTTCTGTTTTTATTACA	0.512													-	149172551	T	-	149172551	7	5	273	1	0	1	0	1	0	0	0	0	18126	1725	60	0	1079	0	ZNF746	7	149172551	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	42595	149172551	9966112	757	138054											
KRBA1	84626	broad.mit.edu	37	chr7	149430469	149430469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacagcctcggtgctgCccttgcggagaagctggatc	14	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149430469C>T	uc003wfz.2	+	18	2825	c.2426C>T	c.(2425-2427)GCC>GTC	p.A809V	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.A416V	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	809	Potential.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCGGTGCTGCCCTTGCGGAG	0.692													T	149430469	C	T	149430469	3	4	273	1	0	0	0	0	1	0	0	0	8439	739	26	2	2487	2	KRBA1	7	149430469	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	257918	149430469	9708194	758	138055											
KRBA1	84626	broad.mit.edu	37	chr7	149430489	149430489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccttgcggagaagctggatCggctcgccacagcgctggca	14	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149430489C>T	uc003wfz.2	+	18	2845	c.2446C>T	c.(2446-2448)CGG>TGG	p.R816W	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.R423W	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	816	Potential.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAAGCTGGATCGGCTCGCCAC	0.687													T	149430489	C	T	149430489	3	4	273	1	0	0	0	0	1	0	0	0	8439	875	31	1	2507	1	KRBA1	7	149430489	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	20	149430489	9708174	759	138056											
SSPO	23145	broad.mit.edu	37	chr7	149509077	149509077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggtgccatcggcaccGgttctgtgccaggtccccca	12	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149509077G>A	uc010lpk.2	+	69	9623	c.9623G>A	c.(9622-9624)CGG>CAG	p.R3208Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3208	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATCGGCACCGGTTCTGTGCC	0.687													A	149509077	G	A	149509077	3	1	273	1	0	0	0	0	1	0	0	0	15188	1116	39	1	9887	1	SSPO	7	149509077	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	78588	149509077	9629586	760	138057											
ZNF862	643641	broad.mit.edu	37	chr7	149559064	149559064	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagcagaggtttgacgcaGaccgacccccacagctgaag	11	14	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149559064G>A	uc010lpn.2	+	7	3007	c.2815G>A	c.(2815-2817)GAC>AAC	p.D939N	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GTTTGACGCAGACCGACCCCC	0.547													A	149559064	G	A	149559064	3	1	273	1	0	0	0	0	1	0	0	0	18192	942	33	4	2841	4	ZNF862	7	149559064	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	49987	149559064	9579599	761	138058											
REPIN1	29803	broad.mit.edu	37	chr7	150069094	150069094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaacttgatcgctcaccGccgcgtgcacacgggcgagc	12	17	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150069094G>A	uc010lpq.1	+	4	1253	c.764G>A	c.(763-765)CGC>CAC	p.R255H	REPIN1_uc003whd.2_Missense_Mutation_p.R244H|REPIN1_uc010lpr.1_Missense_Mutation_p.R312H|REPIN1_uc003whc.2_Missense_Mutation_p.R255H|REPIN1_uc003whe.2_Missense_Mutation_p.R255H	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	255	C2H2-type 6.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ATCGCTCACCGCCGCGTGCAC	0.592													A	150069094	G	A	150069094	3	1	273	1	0	0	0	0	1	0	0	0	13227	1087	38	1	941	1	REPIN1	7	150069094	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	510030	150069094	9069569	762	138059											
GIMAP8	155038	broad.mit.edu	37	chr7	150174636	150174636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataacaaagcccttcggcGcatttttaaaaagtgtgggc	10	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150174636G>A	uc003whj.2	+	5	2096	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	589						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R589H(1)		skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCCTTCGGCGCATTTTTAAA	0.458													A	150174636	G	A	150174636	3	1	273	1	0	0	0	0	1	0	0	0	6385	1087	38	1	1780	1	GIMAP8	7	150174636	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	105542	150174636	8964027	763	138060											
NOS3	4846	broad.mit.edu	37	chr7	150698665	150698665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggagtgccgccaagggcAccggcatcaccaggaagaag	16	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150698665A>G	uc003wif.2	+	12	1758	c.1462A>G	c.(1462-1464)ACC>GCC	p.T488A	NOS3_uc011kuy.1_Missense_Mutation_p.T282A|NOS3_uc011kuz.1_Missense_Mutation_p.T488A|NOS3_uc011kva.1_Missense_Mutation_p.T488A|NOS3_uc011kvb.1_Missense_Mutation_p.T488A	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	488					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			central_nervous_system(5)|large_intestine(2)|skin(1)	8	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)	CGCCAAGGGCACCGGCATCAC	0.627													G	150698665	A	G	150698665	3	3	273	1	0	0	0	0	1	0	0	0	10544	159	6	3	1504	3	NOS3	7	150698665	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	524029	150698665	8439998	764	138061											
SLC4A2	6522	broad.mit.edu	37	chr7	150771577	150771577	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacacctatacccaggTaaggtgctgcccacagcagg	12	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150771577T>C	uc003wit.3	+	18	3136	c.2880_splice	c.e18+2	p.Q960_splice	SLC4A2_uc011kve.1_Splice_Site_p.Q951_splice|SLC4A2_uc003wiu.3_Splice_Site_p.Q946_splice|SLC4A2_uc003wiv.3_Splice_Site_p.Q154_splice	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member						bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATACCCAGGTAAGGTGCTGC	0.587													C	150771577	T	C	150771577	5	2	273	1	0	0	0	0	0	0	1	0	14654	1652	57	3	2948	3	SLC4A2	7	150771577	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	72912	150771577	8367086	765	138062											
ASB10	136371	broad.mit.edu	37	chr7	150878271	150878271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggtccgcagcatcagCgtctgctccagctgaaagca	11	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150878271C>T	uc003wjm.1	-	3	1120	c.994G>A	c.(994-996)GCT>ACT	p.A332T	ASB10_uc003wjl.1_Missense_Mutation_p.A332T|ASB10_uc003wjn.1_Missense_Mutation_p.A272T	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	287	ANK 5.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCATCAGCGTCTGCTCCA	0.677													T	150878271	C	T	150878271	3	4	273	1	0	0	0	0	1	0	0	0	1014	768	27	1	556	1	ASB10	7	150878271	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	106694	150878271	8260392	766	138063											
CHPF2	54480	broad.mit.edu	37	chr7	150935382	150935383	+	Frame_Shift_Ins	INS	-	-	C													cccccgggggctggccctgaINSccccccctcccctcctggtg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150935382_150935383insC	uc003wjr.1	+	4	3447_3448	c.1934_1935insC	c.(1933-1935)GACfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.D637fs|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	645	Gly/Pro-rich.|Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GCTGGCCCTGACCCCCCCTCCC	0.649													C	150935383	-	C	150935382	7	5	273	1	0	1	1	0	0	0	0	0	3369	275	10	0	1948	0	CHPF2	7	150935382	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	57111	150935382	8203281	767	138064	728	2									
CHPF2	54480	broad.mit.edu	37	chr7	150935383	150935384	+	Frame_Shift_Ins	INS	-	-	C													ccccgggggctggccctgacINScccccctcccctcctggtgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150935382_150935383A>AC	uc003wjr.1	+	3	3447_3448	c.1934_1935A>AC	c.(1933-1935)gacfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.D637fs|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	645	Gly/Pro-rich.					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						GCTGGCCCTGACCCCCCCTCCC	0.649													C	150935384	-	C	150935383	7	5	273	1	0	1	1	0	0	0	0	0	3369	506	18	0	1949	0	CHPF2	7	150935383	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	150935383	8203280	768	138065	728	2									
MLL3	58508	broad.mit.edu	37	chr7	151836879	151836879	+	Splice_Site	DEL	A	A	-													agcatacaggcccagcccctAaaaaaaagtgtgtacatact							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma								-	151836879	A	-	151836879	8	5	273	1	0	1	0	1	0	0	1	0	9622	377	13	0		0	MLL3	7	151836879	Splice_Site	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	901496	151836879	7301784	769	138066											
MLL3	58508	broad.mit.edu	37	chr7	151884806	151884806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaggcttgtacctggcaTcaggataagaggattgtgca	12	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:151884806T>C	uc003wla.2	-	32	5006	c.4787A>G	c.(4786-4788)GAT>GGT	p.D1596G	MLL3_uc003wkz.2_Missense_Mutation_p.D657G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1596					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTACCTGGCATCAGGATAAGA	0.368			N		medulloblastoma								C	151884806	T	C	151884806	3	2	273	1	0	0	0	0	1	0	0	0	9622	1435	50	3	10060	3	MLL3	7	151884806	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	47927	151884806	7253857	770	138067											
XRCC2	7516	broad.mit.edu	37	chr7	152346220	152346221	+	Frame_Shift_Ins	INS	-	-	A													gctactactgcagtacaccaINSaaaaaaatcttcccaggcag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:152346219_152346220C>CA	uc003wld.3	-	2	436_437	c.350_351G>TG	c.(349-351)ttgfs	p.L117fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TGCAGTACACCAAAAAAAATCT	0.396								Homologous recombination					A	152346221	-	A	152346220	7	5	273	1	0	1	1	0	0	0	0	0	17450	131	5	0	496	0	XRCC2	7	152346220	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	461414	152346220	6792443	771	138068											
RBM33	155435	broad.mit.edu	37	chr7	155537713	155537713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagatagaagaacagaaacGcctaagagaagaaatcctga	9	6	0	7			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:155537713G>A	uc010lqk.1	+	14	2764	c.2396G>A	c.(2395-2397)CGC>CAC	p.R799H	RBM33_uc011kvv.1_Missense_Mutation_p.R608H|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	799	Potential.						nucleotide binding|RNA binding			ovary(1)	1	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)		GAACAGAAACGCCTAAGAGAA	0.463													A	155537713	G	A	155537713	3	1	273	1	0	0	0	0	1	0	0	0	13130	1087	38	1	2450	1	RBM33	7	155537713	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3191493	155537713	3600950	772	138069											
ESYT2	57488	broad.mit.edu	37	chr7	158529777	158529777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatgttttctttgacacGtgtgttttcctccttcctga	6	9	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:158529777G>A	uc003wob.1	-	19	2508	c.2442C>T	c.(2440-2442)CAC>CAT	p.H814H	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Silent_p.H253H|ESYT2_uc003woa.1_Silent_p.H391H	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	842	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TCTTTGACACGTGTGTTTTCC	0.453													A	158529777	G	A	158529777	2	1	273	1	0	0	0	0	0	0	0	1	5265	1136	40	1		1	ESYT2	7	158529777	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2992064	158529777	608886	773	138070											
ARHGEF10	9639	broad.mit.edu	37	chr8	1905280	1905280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgctgagaagcaaagcaCgccgggccaagaaagccaag	12	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:1905280C>T	uc003wpr.2	+	29	4064	c.3886C>T	c.(3886-3888)CGC>TGC	p.R1296C	ARHGEF10_uc003wps.2_Missense_Mutation_p.R1258C|ARHGEF10_uc010lre.2_Missense_Mutation_p.R947C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1321					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			large_intestine(1)	1		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)		AAGCAAAGCACGCCGGGCCAA	0.627													T	1905280	C	T	1905280	3	4	273	1	0	0	0	0	1	0	0	0	894	536	19	1	3996	1	ARHGEF10	8	1905280	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08		1905280	144458742	774	138071											
CSMD1	64478	broad.mit.edu	37	chr8	2857534	2857534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgcaggcatatcctcaCggaagttcccacaagccgga	10	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:2857534C>T	uc011kwk.1	-	53	8542	c.8152G>A	c.(8152-8154)GTG>ATG	p.V2718M	CSMD1_uc011kwj.1_Missense_Mutation_p.V2047M|CSMD1_uc010lrg.2_Missense_Mutation_p.V728M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2718	Extracellular (Potential).|Sushi 18.					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)		CATATCCTCACGGAAGTTCCC	0.507													T	2857534	C	T	2857534	3	4	273	1	0	0	0	0	1	0	0	0	3944	536	19	1	2617	1	CSMD1	8	2857534	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	952254	2857534	143506488	775	138072											
CSMD1	64478	broad.mit.edu	37	chr8	3046507	3046507	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggattgtacctcttcGttgagtgaaattgccactgc	11	9	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:3046507G>A	uc011kwk.1	-	35	5818	c.5428C>T	c.(5428-5430)CGA>TGA	p.R1810*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.R1202*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.R966*|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1810	Extracellular (Potential).|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)		GTACCTCTTCGTTGAGTGAAA	0.453													A	3046507	G	A	3046507	4	1	273	1	0	0	0	0	0	1	0	0	3944	1153	40	1	5413	1	CSMD1	8	3046507	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	188973	3046507	143317515	776	138073											
DEFB135	613209	broad.mit.edu	37	chr8	11842012	11842012	+	Frame_Shift_Del	DEL	A	A	-													acttgccggccaaaatgtctAaaaaacgaacaatatcgtat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:11842012delA	uc003wuw.1	+	2	147	c.147delA	c.(145-147)CTAfs	p.L49fs		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	49					defense response to bacterium	extracellular region					0						CAAAATGTCTAAAAAACGAAC	0.383													-	11842012	A	-	11842012	7	5	273	1	0	1	0	1	0	0	0	0	4419	349	13	0	153	0	DEFB135	8	11842012	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	8795505	11842012	134522010	777	138074											
TUSC3	7991	broad.mit.edu	37	chr8	15605939	15605939	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagttttctactttcAatatttcgttccaagtacca	3	10	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:15605939A>G	uc003wwt.2	+	9	1203	c.993A>G	c.(991-993)TCA>TCG	p.S331S	TUSC3_uc003wwu.2_Silent_p.S331S|TUSC3_uc003wwv.2_Silent_p.S331S|TUSC3_uc003www.2_Intron|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	331	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		TTCTACTTTCAATATTTCGTT	0.328													G	15605939	A	G	15605939	2	3	273	1	0	0	0	0	0	0	0	1	16775	117	5	3		3	TUSC3	8	15605939	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3763927	15605939	130758083	778	138075											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363162	19363163	+	Frame_Shift_Ins	INS	-	-	A													tgctgctcctcccactcctgINSaaggacggcctggtacccct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:19363162_19363163insA	uc011kyn.1	-	4	1247_1248	c.183_184insT	c.(181-186)CTTCAGfs	p.L61fs	CSGALNACT1_uc011kyo.1_Frame_Shift_Ins_p.L61fs|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Frame_Shift_Ins_p.L60fs|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	61_62	Lumenal (Potential).|Potential.				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			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		TCCCACTCCTGAAGGACGGCCT	0.629													A	19363163	-	A	19363162	7	5	273	1	0	1	1	0	0	0	0	0	3938	1299	45	0	1442	0	CSGALNACT1	8	19363162	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3757223	19363162	127000860	779	138076	729	2									
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363163	19363164	+	Frame_Shift_Ins	INS	-	-	A													gctgctcctcccactcctgaINSaggacggcctggtacccctc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:19363162_19363163G>GA	uc011kyn.2	-	3	1247_1248	c.183_184C>TC	c.(181-186)cttcagfs	p.L61fs	CSGALNACT1_uc011kyo.2_Frame_Shift_Ins_p.L61fs|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Frame_Shift_Ins_p.L61fs|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	61					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|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	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)		TCCCACTCCTGAAGGACGGCCT	0.629													A	19363164	-	A	19363163	7	5	273	1	0	1	1	0	0	0	0	0	3938	233	9	0	1443	0	CSGALNACT1	8	19363163	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	19363163	127000859	780	138077	729	2									
EPB49	2039	broad.mit.edu	37	chr8	21938932	21938932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttggcaagctggctctGtggaagcggaatgagctcaa	15	7	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:21938932G>A	uc011kyt.1	+	15	1405	c.1176G>A	c.(1174-1176)CTG>CTA	p.L392L	EPB49_uc010ltl.2_Silent_p.L370L|EPB49_uc010ltn.2_Silent_p.L345L|EPB49_uc011kyu.1_Silent_p.L392L|EPB49_uc011kyv.1_Silent_p.L392L|EPB49_uc010ltq.2_Silent_p.L370L	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	392	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AGCTGGCTCTGTGGAAGCGGA	0.587													A	21938932	G	A	21938932	2	1	273	1	0	0	0	0	0	0	0	1	5159	1364	48	4		4	EPB49	8	21938932	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2575769	21938932	124425090	781	138078											
PIWIL2	55124	broad.mit.edu	37	chr8	22210607	22210607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaattatcagcccaagAtggtggtgtttgtagttcag	12	5	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:22210607A>G	uc003xbn.2	+	21	2687	c.2539A>G	c.(2539-2541)ATG>GTG	p.M847V	PIWIL2_uc011kzf.1_Missense_Mutation_p.M847V|PIWIL2_uc010ltv.2_Missense_Mutation_p.M847V|PIWIL2_uc003xbo.2_Missense_Mutation_p.M1V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	847	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			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCAGCCCAAGATGGTGGTGTT	0.428													G	22210607	A	G	22210607	3	3	273	1	0	0	0	0	1	0	0	0	11958	333	12	3	2617	3	PIWIL2	8	22210607	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	271675	22210607	124153415	782	138079											
KIAA1967	57805	broad.mit.edu	37	chr8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-													ttcagtacctgcagccgggaCccccccggcggcttcagaca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582													-	22472975	C	-	22472975	7	5	273	1	0	1	0	1	0	0	0	0	8265	507	18	0	1285	0	KIAA1967	8	22472975	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	262368	22472975	123891047	783	138080											
RHOBTB2	23221	broad.mit.edu	37	chr8	22863501	22863501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttctgtgcttctccAttgccaaccccaattccctc	7	15	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:22863501A>G	uc003xcq.2	+	4	862	c.325A>G	c.(325-327)ATT>GTT	p.I109V	RHOBTB2_uc003xcp.2_Missense_Mutation_p.I131V|RHOBTB2_uc011kzp.1_Missense_Mutation_p.I116V	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	109	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GTGCTTCTCCATTGCCAACCC	0.542													G	22863501	A	G	22863501	3	3	273	1	0	0	0	0	1	0	0	0	13334	217	8	3	420	3	RHOBTB2	8	22863501	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	390526	22863501	123500521	784	138081											
ESCO2	157570	broad.mit.edu	37	chr8	27657117	27657117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctctacggaatgtccTagggcttggcaatgttcaga	11	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:27657117T>C	uc003xgg.2	+	10	1640	c.1557T>C	c.(1555-1557)CCT>CCC	p.P519P	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	519					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		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)		CGGAATGTCCTAGGGCTTGGC	0.463									SC_Phocomelia_syndrome				C	27657117	T	C	27657117	2	2	273	1	0	0	0	0	0	0	0	1	5249	1509	53	3		3	ESCO2	8	27657117	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4793616	27657117	118706905	785	138082											
SCARA5	286133	broad.mit.edu	37	chr8	27764668	27764668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgagattgttattaccttTgaacccacgcatgcccattg	7	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:27764668T>C	uc003xgj.2	-	6	1533	c.1093A>G	c.(1093-1095)AAA>GAA	p.K365E	SCARA5_uc010luz.2_Missense_Mutation_p.K140E|SCARA5_uc003xgk.2_Missense_Mutation_p.K322E|SCARA5_uc003xgl.2_Missense_Mutation_p.K365E	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	365	Collagen-like.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TTATTACCTTTGAACCCACGC	0.468													C	27764668	T	C	27764668	3	2	273	1	0	0	0	0	1	0	0	0	13880	1821	63	3	410	3	SCARA5	8	27764668	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	107551	27764668	118599354	786	138083											
FZD3	7976	broad.mit.edu	37	chr8	28360587	28360587	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgtgttcatggggcaTataggtgggcacagtttgtt	14	5	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:28360587T>C	uc003xgx.2	+	3	535	c.57T>C	c.(55-57)CAT>CAC	p.H19H	FZD3_uc010lvb.2_Silent_p.H19H	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	19					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCATGGGGCATATAGGTGGGC	0.428													C	28360587	T	C	28360587	2	2	273	1	0	0	0	0	0	0	0	1	6131	1403	49	3		3	FZD3	8	28360587	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	595919	28360587	118003435	787	138084											
WRN	7486	broad.mit.edu	37	chr8	30948393	30948393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtatccacctgtttatgtAggcaagattggccttgttat	9	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:30948393A>G	uc003xio.3	+	15	2552	c.1764A>G	c.(1762-1764)GTA>GTG	p.V588V	WRN_uc010lvk.2_Silent_p.V55V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	588	Helicase ATP-binding.				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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGTTTATGTAGGCAAGATTG	0.313			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				G	30948393	A	G	30948393	2	3	273	1	0	0	0	0	0	0	0	1	17399	407	15	3		3	WRN	8	30948393	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2587806	30948393	115415629	788	138085											
BAG4	9530	broad.mit.edu	37	chr8	38034486	38034486	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgccggtacacccaccTccacccttatatcctcttcg	6	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:38034486T>G	uc003xky.1	+	1	381	c.99T>G	c.(97-99)CCT>CCG	p.P33P	LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Silent_p.P33P	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	33					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TACACCCACCTCCACCCTTAT	0.701													G	38034486	T	G	38034486	2	3	273	1	0	0	0	0	0	0	0	1	1289	1538	54	5		5	BAG4	8	38034486	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	7086093	38034486	108329536	789	138086											
C8orf4	56892	broad.mit.edu	37	chr8	40011203	40011203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaatcactagaaaggcTcttcagaaactctggagaca	8	10	4	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:40011203T>C	uc003xnq.1	+	1	215	c.152T>C	c.(151-153)CTC>CCC	p.L51P		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	thyroid cancer-1	51					apoptosis					ovary(1)	1	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CTAGAAAGGCTCTTCAGAAAC	0.488													C	40011203	T	C	40011203	3	2	273	1	0	0	0	0	1	0	0	0	2425	1551	54	3	154	3	C8orf4	8	40011203	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1976717	40011203	106352819	790	138087											
ANK1	286	broad.mit.edu	37	chr8	41551573	41551573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatggggctgaatgtggcCtggttgcccaggagcttagt	15	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41551573C>A	uc003xok.2	-	29	3459	c.3375G>T	c.(3373-3375)CAG>CAT	p.Q1125H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.Q441H|ANK1_uc003xoi.2_Missense_Mutation_p.Q1125H|ANK1_uc003xoj.2_Missense_Mutation_p.Q1125H|ANK1_uc003xol.2_Missense_Mutation_p.Q1125H|ANK1_uc003xom.2_Missense_Mutation_p.Q1166H	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1125					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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			TGAATGTGGCCTGGTTGCCCA	0.622													A	41551573	C	A	41551573	3	1	273	1	0	0	0	0	1	0	0	0	620	680	24	5	2652	5	ANK1	8	41551573	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1540370	41551573	104812449	791	138088											
ANK1	286	broad.mit.edu	37	chr8	41554007	41554007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgatgcgggtgggcGctgcgcacgtccgtggcggg	22	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41554007G>A	uc003xok.2	-	26	2918	c.2834C>T	c.(2833-2835)GCG>GTG	p.A945V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.A261V|ANK1_uc003xoi.2_Missense_Mutation_p.A945V|ANK1_uc003xoj.2_Missense_Mutation_p.A945V|ANK1_uc003xol.2_Missense_Mutation_p.A945V|ANK1_uc003xom.2_Missense_Mutation_p.A986V	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	945	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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			GCGGGTGGGCGCTGCGCACGT	0.667													A	41554007	G	A	41554007	3	1	273	1	0	0	0	0	1	0	0	0	620	1087	38	1	3205	1	ANK1	8	41554007	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2434	41554007	104810015	792	138089											
ANK1	286	broad.mit.edu	37	chr8	41563684	41563684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggcgtccaccatgaCgccgtgtttgatcagcacat	13	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41563684C>T	uc003xok.2	-	18	2158	c.2074G>A	c.(2074-2076)GTC>ATC	p.V692I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_5'UTR|ANK1_uc003xoi.2_Missense_Mutation_p.V692I|ANK1_uc003xoj.2_Missense_Mutation_p.V692I|ANK1_uc003xol.2_Missense_Mutation_p.V692I|ANK1_uc003xom.2_Missense_Mutation_p.V725I	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	692	ANK 20.|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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			TCCACCATGACGCCGTGTTTG	0.537													T	41563684	C	T	41563684	3	4	273	1	0	0	0	0	1	0	0	0	620	536	19	1	4025	1	ANK1	8	41563684	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	9677	41563684	104800338	793	138090											
ANK1	286	broad.mit.edu	37	chr8	41753956	41753956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctggagggcctgcgcctCgatgtctttgattttcttca	10	12	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41753956C>T	uc003xom.2	-	1	325	c.43G>A	c.(43-45)GAG>AAG	p.E15K		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	Error:Variant_position_missing_in_P16157_after_alignment					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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			GCCTGCGCCTCGATGTCTTTG	0.637													T	41753956	C	T	41753956	3	4	273	1	0	0	0	0	1	0	0	0	620	893	31	1	6254	1	ANK1	8	41753956	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	190272	41753956	104610066	794	138091											
AP3M2	10947	broad.mit.edu	37	chr8	42019916	42019916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgattgaagagattgAtgcaattattgataaatcag	10	2	1	6			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:42019916A>G	uc003xop.2	+	5	854	c.563A>G	c.(562-564)GAT>GGT	p.D188G	AP3M2_uc003xoo.2_Missense_Mutation_p.D188G|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.D73G|AP3M2_uc003xor.1_Missense_Mutation_p.D188G	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	188	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAAGAGATTGATGCAATTATT	0.398													G	42019916	A	G	42019916	3	3	273	1	0	0	0	0	1	0	0	0	748	333	12	3	573	3	AP3M2	8	42019916	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	265960	42019916	104344106	795	138092											
HGSNAT	138050	broad.mit.edu	37	chr8	43016647	43016647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctttctgaggctcttgtTgaggtaagatatttggggag	13	5	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:43016647T>C	uc003xpx.3	+	5	608	c.560T>C	c.(559-561)TTG>TCG	p.L187S		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	215	Cytoplasmic (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	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)			AGGCTCTTGTTGAGGTAAGAT	0.443													C	43016647	T	C	43016647	3	2	273	1	0	0	0	0	1	0	0	0	7088	1821	63	3	578	3	HGSNAT	8	43016647	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	996731	43016647	103347375	796	138093											
KIAA0146	23514	broad.mit.edu	37	chr8	48511574	48511574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaaagaagcaaaacagCgcatcccaaccagcactccc	7	16	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:48511574C>T	uc003xqd.2	+	10	1369	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C	KIAA0146_uc011lda.1_Missense_Mutation_p.R143C|KIAA0146_uc011ldb.1_Missense_Mutation_p.R454C|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Missense_Mutation_p.R384C|KIAA0146_uc011ldd.1_Missense_Mutation_p.R394C|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.R143C|KIAA0146_uc010lxt.2_Missense_Mutation_p.R143C	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	454											0		Lung NSC(58;0.175)				AGCAAAACAGCGCATCCCAAC	0.567													T	48511574	C	T	48511574	3	4	273	1	0	0	0	0	1	0	0	0	8157	768	27	1	1398	1	KIAA0146	8	48511574	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5494927	48511574	97852448	797	138094											
MCM4	4173	broad.mit.edu	37	chr8	48887520	48887520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatatctattcttactaCgggttcgttattttcagtga	8	7	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:48887520C>T	uc003xqk.1	+	15	2458	c.2363C>T	c.(2362-2364)ACG>ATG	p.T788M	MCM4_uc003xql.1_Missense_Mutation_p.T788M|MCM4_uc011ldi.1_Missense_Mutation_p.T775M	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	788					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			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATTCTTACTACGGGTTCGTTA	0.398													T	48887520	C	T	48887520	3	4	273	1	0	0	0	0	1	0	0	0	9389	536	19	1	2417	1	MCM4	8	48887520	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	375946	48887520	97476502	798	138095											
SNAI2	6591	broad.mit.edu	37	chr8	49833799	49833799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaggcgttgaaatgcTtcttgaccaggaaggagcgc	14	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:49833799T>C	uc003xqp.2	-	1	190	c.26A>G	c.(25-27)AAG>AGG	p.K9R		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	9					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GTTGAAATGCTTCTTGACCAG	0.547													C	49833799	T	C	49833799	3	2	273	1	0	0	0	0	1	0	0	0	14827	1609	56	3	792	3	SNAI2	8	49833799	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	946279	49833799	96530223	799	138096											
PXDNL	137902	broad.mit.edu	37	chr8	52384842	52384842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacctccacatcctgcggCtcaaaagtaattcgggggct	11	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:52384842C>T	uc003xqu.3	-	8	818	c.717G>A	c.(715-717)GAG>GAA	p.E239E		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	239	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCCTGCGGCTCAAAAGTAA	0.423													T	52384842	C	T	52384842	2	4	273	1	0	0	0	0	0	0	0	1	12848	796	28	2		2	PXDNL	8	52384842	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2551043	52384842	93979180	800	138097											
OPRK1	4986	broad.mit.edu	37	chr8	54163341	54163341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgtccccgcgctcacCggatgatcacgaacatgacc	10	16	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:54163341C>T	uc003xrh.1	-	1	632	c.257G>A	c.(256-258)CGA>CAA	p.R86Q	OPRK1_uc003xri.1_Missense_Mutation_p.R86Q|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	86	Cytoplasmic (Potential).				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			ovary(1)|skin(1)	2		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)	CCGCGCTCACCGGATGATCAC	0.682													T	54163341	C	T	54163341	3	4	273	1	0	0	0	0	1	0	0	0	10885	666	23	1	897	1	OPRK1	8	54163341	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1778499	54163341	92200681	801	138098											
SOX17	64321	broad.mit.edu	37	chr8	55372308	55372308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgggccccggacagcCgtcgccccctccggaggcac	12	23	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:55372308C>T	uc003xsb.3	+	2	1202	c.998C>T	c.(997-999)CCG>CTG	p.P333L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	333	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCCGGACAGCCGTCGCCCCCT	0.512													T	55372308	C	T	55372308	3	4	273	1	0	0	0	0	1	0	0	0	14947	652	23	1	1004	1	SOX17	8	55372308	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1208967	55372308	90991714	802	138099											
RP1	6101	broad.mit.edu	37	chr8	55533545	55533545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtgataccccttctActggtttttccatcattcat	5	10	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:55533545A>C	uc003xsd.1	+	2	167	c.19A>C	c.(19-21)ACT>CCT	p.T7P	RP1_uc011ldy.1_Missense_Mutation_p.T7P	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	7					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			skin(7)|ovary(4)|pancreas(1)	12		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)			TACCCCTTCTACTGGTTTTTC	0.443													C	55533545	A	C	55533545	3	2	273	1	0	0	0	0	1	0	0	0	13532	391	14	5	21	5	RP1	8	55533545	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	161237	55533545	90830477	803	138100											
MOS	4342	broad.mit.edu	37	chr8	57026165	57026165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggaccctgcgggcgtgCgcgtgctggcagccaccacg	15	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:57026165C>T	uc011leb.1	-	1	377	c.377G>A	c.(376-378)CGC>CAC	p.R126H		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	126	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGCGGGCGTGCGCGTGCTGGC	0.607													T	57026165	C	T	57026165	3	4	273	1	0	0	0	0	1	0	0	0	9712	768	27	1	666	1	MOS	8	57026165	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1492620	57026165	89337857	804	138101											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989015	66989015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcaaagagaagcatataCgacaagtacggatcgctggg	11	7	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:66989015C>T	uc003xvs.1	+	4	531	c.240C>T	c.(238-240)TAC>TAT	p.Y80Y	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	80	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		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)			GAAGCATATACGACAAGTACG	0.468													T	66989015	C	T	66989015	2	4	273	1	0	0	0	0	0	0	0	1	4651	547	19	1		1	DNAJC5B	8	66989015	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	9962850	66989015	79375007	805	138102											
TRIM55	84675	broad.mit.edu	37	chr8	67039509	67039509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacagcgaggagatgagCgcatctctgaattacaaatc	13	8	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:67039509C>T	uc003xvv.2	+	1	232	c.6C>T	c.(4-6)AGC>AGT	p.S2S	TRIM55_uc003xvu.2_Silent_p.S2S|TRIM55_uc003xvw.2_Silent_p.S2S|TRIM55_uc003xvx.2_Silent_p.S2S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	2						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		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)			AGGAGATGAGCGCATCTCTGA	0.478													T	67039509	C	T	67039509	2	4	273	1	0	0	0	0	0	0	0	1	16526	767	27	1		1	TRIM55	8	67039509	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	50494	67039509	79324513	806	138103											
C8orf46	254778	broad.mit.edu	37	chr8	67405903	67405903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgatgcatcagatttacaGctgcagtgacgagaacatag	10	7	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:67405903G>T	uc003xwg.2	+	1	413	c.20G>T	c.(19-21)AGC>ATC	p.S7I	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.S7I	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	7										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAGATTTACAGCTGCAGTGAC	0.512													T	67405903	G	T	67405903	3	4	273	1	0	0	0	0	1	0	0	0	2431	971	34	5	22	5	C8orf46	8	67405903	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	366394	67405903	78958119	807	138104											
MYBL1	4603	broad.mit.edu	37	chr8	67488453	67488454	+	Frame_Shift_Ins	INS	-	-	T													gttgccaccattacaagtgtINStttttttcccttcaagtaca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:67488452_67488453G>GT	uc003xwj.3	-	9	1666_1667	c.1259_1260C>AC	c.(1258-1260)aacfs	p.N420fs	MYBL1_uc003xwl.3_Frame_Shift_Ins_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Ins_p.N419fs	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406													T	67488454	-	T	67488453	7	5	273	1	0	1	1	0	0	0	0	0	10009	1725	60	0	1027	0	MYBL1	8	67488453	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	82550	67488453	78875569	808	138105											
ARFGEF1	10565	broad.mit.edu	37	chr8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G													acttacaggagatggaggtgINSggggggcagtttctccagaa					rs142098461		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					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)			GAGATGGAGGTGGGGGGGCAGT	0.421													G	68128857	-	G	68128856	7	5	273	1	0	1	1	0	0	0	0	0	852	1348	47	0	922	0	ARFGEF1	8	68128856	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	640403	68128856	78235166	809	138106											
EYA1	2138	broad.mit.edu	37	chr8	72229819	72229819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtatggtgcctgtccaGgttgaggggtactgaagctt	15	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:72229819G>T	uc003xys.3	-	6	811	c.524C>A	c.(523-525)CCT>CAT	p.P175H	EYA1_uc003xyr.3_Missense_Mutation_p.P170H|EYA1_uc003xyt.3_Missense_Mutation_p.P142H|EYA1_uc010lzf.2_Missense_Mutation_p.P102H|EYA1_uc003xyu.2_Missense_Mutation_p.P175H|EYA1_uc011lfe.1_Missense_Mutation_p.P169H|EYA1_uc003xyv.2_Missense_Mutation_p.P53H	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	175					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			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCTGTCCAGGTTGAGGGGT	0.458													T	72229819	G	T	72229819	3	4	273	1	0	0	0	0	1	0	0	0	5328	1000	35	5	1302	5	EYA1	8	72229819	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4100963	72229819	74134203	810	138107											
MSC	9242	broad.mit.edu	37	chr8	72756328	72756328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctacgccgcggaggggcGgcctcttggaggcggggacc	19	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:72756328G>A	uc003xyx.1	-	1	404	c.86C>T	c.(85-87)CCG>CTG	p.P29L	uc011lff.1_Intron|uc003xyy.2_RNA	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	29					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GCGGAGGGGCGGCCTCTTGGA	0.706													A	72756328	G	A	72756328	3	1	273	1	0	0	0	0	1	0	0	0	9868	1116	39	1	542	1	MSC	8	72756328	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	526509	72756328	73607694	811	138108											
TRPA1	8989	broad.mit.edu	37	chr8	72951992	72951992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatattctttacacacaGgatgattgagaagctctatg	8	6	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:72951992G>T	uc003xza.2	-	18	2277	c.2102C>A	c.(2101-2103)CCT>CAT	p.P701H	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	701	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TTTACACACAGGATGATTGAG	0.308													T	72951992	G	T	72951992	3	4	273	1	0	0	0	0	1	0	0	0	16574	1000	35	5	1297	5	TRPA1	8	72951992	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	195664	72951992	73412030	812	138109											
CRISPLD1	83690	broad.mit.edu	37	chr8	75898418	75898418	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaatgacatgcagagtattTtggaccttcataataaatta	6	6	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:75898418T>A	uc003yan.2	+	2	571	c.196T>A	c.(196-198)TTG>ATG	p.L66M		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	66						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAGAGTATTTTGGACCTTCA	0.393													A	75898418	T	A	75898418	3	1	273	1	0	0	0	0	1	0	0	0	3882	1838	64	5	198	5	CRISPLD1	8	75898418	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2946426	75898418	70465604	813	138110											
HNF4G	3174	broad.mit.edu	37	chr8	76471265	76471265	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctacttcaggaaatgctAttaggtggtgagtacattga	10	5	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:76471265A>G	uc003yaq.2	+	9	1245	c.975A>G	c.(973-975)CTA>CTG	p.L325L	HNF4G_uc003yar.2_Silent_p.L362L	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	325					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			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGAAATGCTATTAGGTGGTG	0.323													G	76471265	A	G	76471265	2	3	273	1	0	0	0	0	0	0	0	1	7254	436	16	3		3	HNF4G	8	76471265	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	572847	76471265	69892757	814	138111											
ZFHX4	79776	broad.mit.edu	37	chr8	77763747	77763747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaaagggcccaattttacGatggaaaaattccttgatcc	8	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:77763747G>A	uc003yav.2	+	10	4842	c.4455G>A	c.(4453-4455)ACG>ACA	p.T1485T	ZFHX4_uc003yau.1_Silent_p.T1530T|ZFHX4_uc003yaw.1_Silent_p.T1485T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1485						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAATTTTACGATGGAAAAAT	0.403										HNSCC(33;0.089)			A	77763747	G	A	77763747	2	1	273	1	0	0	0	0	0	0	0	1	17632	1045	37	1		1	ZFHX4	8	77763747	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1292482	77763747	68600275	815	138112											
ZFHX4	79776	broad.mit.edu	37	chr8	77767554	77767554	+	Frame_Shift_Del	DEL	T	T	-													tatgatcaaaataaaaccgaTtttgatgagacttcatcgat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:77767553_77767553AT>A	uc003yau.2	+	9	8783	c.8396_8396AT>A	c.(8395-8397)gatfs	p.D2799fs	ZFHX4_uc003yaw.1_Frame_Shift_Del_p.D2754fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2754						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)			AATAAAACCGATTTTGATGAG	0.438										HNSCC(33;0.089)			-	77767554	T	-	77767554	7	5	273	1	0	1	0	1	0	0	0	0	17632	1490	52	0	8431	0	ZFHX4	8	77767554	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	3807	77767554	68596468	816	138113											
PAG1	55824	broad.mit.edu	37	chr8	81892718	81892718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagacttgtatgacaaTgagctaaatctctgtcagaa	8	9	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:81892718T>C	uc003ybz.2	-	8	1599	c.888A>G	c.(886-888)TCA>TCG	p.S296S		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	296	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGTATGACAATGAGCTAAATC	0.373													C	81892718	T	C	81892718	2	2	273	1	0	0	0	0	0	0	0	1	11388	1451	51	3		3	PAG1	8	81892718	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4125164	81892718	64471304	817	138114											
CNGB3	54714	broad.mit.edu	37	chr8	87679290	87679290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatatgggaagacgaggcGcagtggtataaaacagcagt	14	5	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:87679290G>A	uc003ydx.2	-	6	761	c.715C>T	c.(715-717)CGC>TGC	p.R239C	CNGB3_uc010maj.2_Missense_Mutation_p.R101C	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	239	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding	p.R239H(1)		ovary(2)|pancreas(1)	3						AAGACGAGGCGCAGTGGTATA	0.423													A	87679290	G	A	87679290	3	1	273	1	0	0	0	0	1	0	0	0	3601	1087	38	1	1766	1	CNGB3	8	87679290	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5786572	87679290	58684732	818	138115											
MMP16	4325	broad.mit.edu	37	chr8	89128810	89128810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgttgggtttggctcCgggataggagggtctgccgg	18	7	1	1	rs141858403		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:89128810C>T	uc003yeb.3	-	6	1291	c.1009G>A	c.(1009-1011)GGA>AGA	p.G337R	MMP16_uc003yec.2_Missense_Mutation_p.G337R	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	337	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GGTTTGGCTCCGGGATAGGAG	0.498													T	89128810	C	T	89128810	3	4	273	1	0	0	0	0	1	0	0	0	9655	661	23	1	990	1	MMP16	8	89128810	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1449520	89128810	57235212	819	138116											
NBN	4683	broad.mit.edu	37	chr8	90983458	90983458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatttgttttctttcctgCcgtcctgacagatcaacatt	6	10	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:90983458C>T	uc003yej.1	-	6	755	c.645G>A	c.(643-645)CGG>CGA	p.R215R	NBN_uc003yei.1_Silent_p.R133R|NBN_uc011lgb.1_Silent_p.R215R	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	215					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			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCTTTCCTGCCGTCCTGACA	0.279								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				T	90983458	C	T	90983458	2	4	273	1	0	0	0	0	0	0	0	1	10191	726	26	2		2	NBN	8	90983458	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1854648	90983458	55380564	820	138117											
CALB1	793	broad.mit.edu	37	chr8	91081413	91081413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaggacttcagctgcTggcatcggaagagcagcagg	13	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:91081413T>C	uc003yel.1	-	4	466	c.284A>G	c.(283-285)CAG>CGG	p.Q95R	CALB1_uc011lge.1_Missense_Mutation_p.Q38R	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	95						nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTCAGCTGCTGGCATCGGAA	0.393													C	91081413	T	C	91081413	3	2	273	1	0	0	0	0	1	0	0	0	2573	1580	55	3	533	3	CALB1	8	91081413	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	97955	91081413	55282609	821	138118											
NECAB1	64168	broad.mit.edu	37	chr8	91929826	91929826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctggaatgtgccatggAaactactgaggagcaaaccc	10	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:91929826A>G	uc011lgg.1	+	6	658	c.464A>G	c.(463-465)GAA>GGA	p.E155G		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	155	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TGTGCCATGGAAACTACTGAG	0.393													G	91929826	A	G	91929826	3	3	273	1	0	0	0	0	1	0	0	0	10304	246	9	3	486	3	NECAB1	8	91929826	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	848413	91929826	54434196	822	138119											
PTDSS1	9791	broad.mit.edu	37	chr8	97316326	97316326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagttcactcctgctAgctggacctatgttcgatgg	10	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:97316326A>C	uc003yht.1	+	7	913	c.811A>C	c.(811-813)AGC>CGC	p.S271R	PTDSS1_uc003yhu.1_Missense_Mutation_p.S125R	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	271					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CACTCCTGCTAGCTGGACCTA	0.458													C	97316326	A	C	97316326	3	2	273	1	0	0	0	0	1	0	0	0	12736	420	15	5	837	5	PTDSS1	8	97316326	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	5386500	97316326	49047696	823	138120											
VPS13B	157680	broad.mit.edu	37	chr8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-													gaactgaaattaccattcacTtttttaagtggacatattca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100050670_100050670CT>C	uc003yiv.3	+	2	278	c.167_167CT>C	c.(166-168)actfs	p.T56fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	56					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)			TTACCATTCACTTTTTTAAGT	0.269													-	100050671	T	-	100050671	7	5	273	1	0	1	0	1	0	0	0	0	17187	1596	56	0	174	0	VPS13B	8	100050671	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	2734345	100050671	46313351	824	138121											
VPS13B	157680	broad.mit.edu	37	chr8	100443829	100443829	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaagctgtagaagtccTgaagaaagaatgaaggaatt	11	4	1	6			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100443829T>C	uc003yiv.2	+	22	3258	c.3147T>C	c.(3145-3147)CCT>CCC	p.P1049P	VPS13B_uc003yiw.2_Silent_p.P1049P|VPS13B_uc003yiu.1_Silent_p.P1049P|VPS13B_uc003yix.1_Silent_p.P519P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1049					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTAGAAGTCCTGAAGAAAGAA	0.328													C	100443829	T	C	100443829	2	2	273	1	0	0	0	0	0	0	0	1	17187	1567	55	3		3	VPS13B	8	100443829	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	393158	100443829	45920193	825	138122											
VPS13B	157680	broad.mit.edu	37	chr8	100832310	100832310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagagaaaattgttctacAggttcctgctggcaaaatta	10	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100832310A>G	uc003yiv.2	+	49	9140	c.9029A>G	c.(9028-9030)CAG>CGG	p.Q3010R	VPS13B_uc003yiw.2_Missense_Mutation_p.Q2985R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3010					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGTTCTACAGGTTCCTGCT	0.348													G	100832310	A	G	100832310	3	3	273	1	0	0	0	0	1	0	0	0	17187	188	7	3	9413	3	VPS13B	8	100832310	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	388481	100832310	45531712	826	138123											
RGS22	26166	broad.mit.edu	37	chr8	100990176	100990176	+	Frame_Shift_Del	DEL	A	A	-													tttcgtcttctaggactgccAatttttttttctgcttatta							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100990175_100990175CA>C	uc003yjb.1	-	22	3684	c.3489_3489TG>G	c.(3487-3489)ttgfs	p.L1163fs	RGS22_uc003yja.1_Frame_Shift_Del_p.L982fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.L1151fs|RGS22_uc022azf.1_Frame_Shift_Del_p.L552fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1163					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)			CTAGGACTGCCAATTTTTTTT	0.313													-	100990176	A	-	100990176	7	5	273	1	0	1	0	1	0	0	0	0	13305	131	5	0	326	0	RGS22	8	100990176	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	157866	100990176	45373846	827	138124											
RGS22	26166	broad.mit.edu	37	chr8	101083648	101083648	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacaagattatcttcttcAgtggcaggaggtggtagact	11	6	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:101083648A>G	uc003yjb.1	-	6	738	c.543T>C	c.(541-543)ACT>ACC	p.T181T	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Silent_p.T181T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	181					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATCTTCTTCAGTGGCAGGAG	0.393													G	101083648	A	G	101083648	2	3	273	1	0	0	0	0	0	0	0	1	13305	175	7	3		3	RGS22	8	101083648	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	93472	101083648	45280374	828	138125											
KLF10	7071	broad.mit.edu	37	chr8	103663669	103663669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcaaacggctggtggCtggctgggaggagtgctggg	24	6	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:103663669C>T	uc011lhk.1	-	3	1045	c.891G>A	c.(889-891)CAG>CAA	p.Q297Q	KLF10_uc011lhj.1_Silent_p.Q286Q	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	297					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CGGCTGGTGGCTGGCTGGGAG	0.592													T	103663669	C	T	103663669	2	4	273	1	0	0	0	0	0	0	0	1	8338	796	28	2		2	KLF10	8	103663669	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2580021	103663669	42700353	829	138126											
LRP12	29967	broad.mit.edu	37	chr8	105601124	105601124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctccagcgacaggccAtaaccacagcagatggagag	12	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:105601124A>G	uc003yma.2	-	1	97	c.2T>C	c.(1-3)ATG>ACG	p.M1T	LRP12_uc003ymb.2_Missense_Mutation_p.M1T|LRP12_uc003ymc.3_Missense_Mutation_p.M1T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	1					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCGACAGGCCATAACCACAGC	0.373													G	105601124	A	G	105601124	3	3	273	1	0	0	0	0	1	0	0	0	8954	217	8	3	2605	3	LRP12	8	105601124	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1937455	105601124	40762898	830	138127											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477216	110477216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttgatgaactgggaatgGggtctgcattttgcacagca	12	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:110477216G>T	uc003yne.2	+	49	8259	c.8155G>T	c.(8155-8157)GGG>TGG	p.G2719W		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2719	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTGGGAATGGGGTCTGCATT	0.473										HNSCC(38;0.096)			T	110477216	G	T	110477216	3	4	273	1	0	0	0	0	1	0	0	0	11972	1232	43	5	8349	5	PKHD1L1	8	110477216	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4876092	110477216	35886806	831	138128											
KCNV1	27012	broad.mit.edu	37	chr8	110984793	110984793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttaactcagctgacatcaGggccatgttaatgatggaca	10	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:110984793G>T	uc003ynr.3	-	2	1027	c.685C>A	c.(685-687)CTG>ATG	p.L229M	KCNV1_uc010mcw.2_Missense_Mutation_p.L229M	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	229	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCTGACATCAGGGCCATGTTA	0.522													T	110984793	G	T	110984793	3	4	273	1	0	0	0	0	1	0	0	0	8094	991	35	5	825	5	KCNV1	8	110984793	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	507577	110984793	35379229	832	138129											
CSMD3	114788	broad.mit.edu	37	chr8	113301692	113301692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcaggaatagtgaAcagtagacccaaaagtatac	9	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:113301692A>G	uc003ynu.2	-	57	9209	c.9050T>C	c.(9049-9051)GTT>GCT	p.V3017A	CSMD3_uc003yns.2_Missense_Mutation_p.V2219A|CSMD3_uc003ynt.2_Missense_Mutation_p.V2977A|CSMD3_uc011lhx.1_Missense_Mutation_p.V2848A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3017	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGAATAGTGAACAGTAGACCC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113301692	A	G	113301692	3	3	273	1	0	0	0	0	1	0	0	0	3946	43	2	3	2133	3	CSMD3	8	113301692	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2316899	113301692	33062330	833	138130											
CSMD3	114788	broad.mit.edu	37	chr8	113569032	113569032	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtcccatgcccttctctcCcctgtcatgcacttgagaag	7	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:113569032C>A	uc003ynu.2	-	25	4353	c.4194G>T	c.(4192-4194)GGG>GGT	p.G1398G	CSMD3_uc003yns.2_Silent_p.G670G|CSMD3_uc003ynt.2_Silent_p.G1358G|CSMD3_uc011lhx.1_Silent_p.G1294G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1398	Extracellular (Potential).|Sushi 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCCTTCTCTCCCCTGTCATGC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113569032	C	A	113569032	2	1	273	1	0	0	0	0	0	0	0	1	3946	610	22	5		5	CSMD3	8	113569032	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	267340	113569032	32794990	834	138131											
CSMD3	114788	broad.mit.edu	37	chr8	114111065	114111065	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagtaaatatgagtgaAattgtgtccccaggctctgc	9	8	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:114111065A>C	uc003ynu.2	-	5	996	c.837T>G	c.(835-837)ATT>ATG	p.I279M	CSMD3_uc003ynt.2_Missense_Mutation_p.I239M|CSMD3_uc011lhx.1_Missense_Mutation_p.I279M|CSMD3_uc010mcx.1_Missense_Mutation_p.I279M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	279	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATATGAGTGAAATTGTGTCCC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	114111065	A	C	114111065	3	2	273	1	0	0	0	0	1	0	0	0	3946	10	1	5	10554	5	CSMD3	8	114111065	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	542033	114111065	32252957	835	138132											
TRPS1	7227	broad.mit.edu	37	chr8	116599312	116599312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccccagacttctctccGccagctggcgccccctgcag	11	19	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:116599312G>A	uc003ynz.2	-	4	3036	c.2577C>T	c.(2575-2577)GGC>GGT	p.G859G	TRPS1_uc011lhy.1_Silent_p.G863G|TRPS1_uc003yny.2_Silent_p.G872G|TRPS1_uc010mcy.2_Silent_p.G859G	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	859					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			ACTTCTCTCCGCCAGCTGGCG	0.572									Langer-Giedion_syndrome				A	116599312	G	A	116599312	2	1	273	1	0	0	0	0	0	0	0	1	16590	1074	38	1		1	TRPS1	8	116599312	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2488247	116599312	29764710	836	138133											
TRPS1	7227	broad.mit.edu	37	chr8	116599595	116599595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcttctctctcttcAccacactctcagaaactggc	4	17	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:116599595A>G	uc003ynz.2	-	4	2753	c.2294T>C	c.(2293-2295)GTG>GCG	p.V765A	TRPS1_uc011lhy.1_Missense_Mutation_p.V769A|TRPS1_uc003yny.2_Missense_Mutation_p.V778A|TRPS1_uc010mcy.2_Missense_Mutation_p.V765A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	765	Mediates interaction with GLI3.				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			CTCTCTCTTCACCACACTCTC	0.493									Langer-Giedion_syndrome				G	116599595	A	G	116599595	3	3	273	1	0	0	0	0	1	0	0	0	16590	159	6	3	1563	3	TRPS1	8	116599595	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	283	116599595	29764427	837	138134											
TAF2	6873	broad.mit.edu	37	chr8	120844892	120844892	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcacactctccactcccCtgcggtccccaagtcacgtc	5	21	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:120844892C>A	uc003you.2	-	1	183	c.-87G>T	c.(-89--85)CAGGG>CATGG			NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2						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			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTCCACTCCCCTGCGGTCCCC	0.647													A	120844892	C	A	120844892	1	1	273	1	0	0	0	0	0	0	0	0	15521	696	24	5		5	TAF2	8	120844892	Translation_Start_Site	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4245297	120844892	25519130	838	138135											
WDR67	93594	broad.mit.edu	37	chr8	124089413	124089413	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttttgcgatttttgaAtgtggcttttgatggcacag	11	4	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:124089413A>C	uc003ypp.1	+	2	230	c.140A>C	c.(139-141)AAT>ACT	p.N47T	WDR67_uc011lig.1_Missense_Mutation_p.N47T|WDR67_uc011lih.1_5'UTR|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.N47T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	47	WD 1.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGATTTTTGAATGTGGCTTTT	0.363													C	124089413	A	C	124089413	3	2	273	1	0	0	0	0	1	0	0	0	17315	101	4	5	146	5	WDR67	8	124089413	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3244521	124089413	22274609	839	138136											
FBXO32	114907	broad.mit.edu	37	chr8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatgaagttcttttgggCgatgccactcagggatgtga	12	7	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:124526525C>T	uc003yqr.2	-	5	613	c.421G>A	c.(421-423)GCC>ACC	p.A141T	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Intron	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	141										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448													T	124526525	C	T	124526525	3	4	273	1	0	0	0	0	1	0	0	0	5742	768	27	1	666	1	FBXO32	8	124526525	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	437112	124526525	21837497	840	138137											
KIAA0196	9897	broad.mit.edu	37	chr8	126056870	126056870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatttctgagaagaggcGgctgctggtcacttcctgat	13	9	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:126056870G>A	uc003yrt.2	-	21	2904	c.2575C>T	c.(2575-2577)CGC>TGC	p.R859C	KIAA0196_uc011lir.1_Missense_Mutation_p.R711C|KIAA0196_uc003yru.1_Missense_Mutation_p.R433C	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	859					cell death	WASH complex				ovary(2)	2	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)			GAGAAGAGGCGGCTGCTGGTC	0.428													A	126056870	G	A	126056870	3	1	273	1	0	0	0	0	1	0	0	0	8161	1116	39	1	940	1	KIAA0196	8	126056870	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1530345	126056870	20307152	841	138138											
KIAA0196	9897	broad.mit.edu	37	chr8	126091169	126091169	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagcagaagatcgagcAgcactgagtcatattcacaa	9	9	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:126091169A>C	uc003yrt.2	-	6	851	c.522T>G	c.(520-522)GCT>GCG	p.A174A	KIAA0196_uc011lir.1_Silent_p.A26A	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	174					cell death	WASH complex				ovary(2)	2	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)			AAGATCGAGCAGCACTGAGTC	0.383													C	126091169	A	C	126091169	2	2	273	1	0	0	0	0	0	0	0	1	8161	175	7	5		5	KIAA0196	8	126091169	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	34299	126091169	20272853	842	138139											
TRIB1	10221	broad.mit.edu	37	chr8	126448430	126448430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctacacccttctggTtggacgataccccttccatg	8	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:126448430T>C	uc003yrx.2	+	3	1418	c.836T>C	c.(835-837)GTT>GCT	p.V279A	TRIB1_uc011lis.1_Missense_Mutation_p.V113A|TRIB1_uc010mdn.2_Missense_Mutation_p.V48A	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	279	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ACCCTTCTGGTTGGACGATAC	0.572													C	126448430	T	C	126448430	3	2	273	1	0	0	0	0	1	0	0	0	16479	1725	60	3	846	3	TRIB1	8	126448430	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	357261	126448430	19915592	843	138140											
ADCY8	114	broad.mit.edu	37	chr8	132051786	132051786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatgccgtcgcccaggagcCcgtagccgaggcctgctgcc	13	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:132051786C>A	uc003ytd.3	-	1	1050	c.794G>T	c.(793-795)GGG>GTG	p.G265V	ADCY8_uc010mds.2_Missense_Mutation_p.G265V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	265	Helical; (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCCAGGAGCCCGTAGCCGAG	0.667										HNSCC(32;0.087)			A	132051786	C	A	132051786	3	1	273	1	0	0	0	0	1	0	0	0	300	623	22	5	3033	5	ADCY8	8	132051786	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5603356	132051786	14312236	844	138141											
PHF20L1	51105	broad.mit.edu	37	chr8	133829724	133829724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcagaaaaagaggatAcacagatgcttccaaatcct	9	10	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:133829724A>G	uc003ytt.2	+	12	1838	c.1513A>G	c.(1513-1515)ACA>GCA	p.T505A	PHF20L1_uc003yts.2_Missense_Mutation_p.T505A|PHF20L1_uc011lja.1_Missense_Mutation_p.T479A|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	505							nucleic acid binding|zinc ion binding			ovary(2)	2	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)			AAAAGAGGATACACAGATGCT	0.448													G	133829724	A	G	133829724	3	3	273	1	0	0	0	0	1	0	0	0	11832	391	14	3	1561	3	PHF20L1	8	133829724	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1777938	133829724	12534298	845	138142											
TG	7038	broad.mit.edu	37	chr8	134128894	134128894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataatcgacatggccagtgCctgggcaaagagggcccgag	14	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:134128894C>T	uc003ytw.2	+	45	7837	c.7796C>T	c.(7795-7797)GCC>GTC	p.A2599V	TG_uc010mdw.2_Missense_Mutation_p.A1358V|TG_uc011ljb.1_Missense_Mutation_p.A968V|TG_uc011ljc.1_Missense_Mutation_p.A732V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2599					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		ATGGCCAGTGCCTGGGCAAAG	0.527													T	134128894	C	T	134128894	3	4	273	1	0	0	0	0	1	0	0	0	15810	739	26	2	7974	2	TG	8	134128894	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	299170	134128894	12235128	846	138143											
NDRG1	10397	broad.mit.edu	37	chr8	134274294	134274294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaggcctctcaccctgCggggaaggaggctgcgccgt	16	13	1	1	rs144310406		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:134274294C>T	uc003yuh.2	-	5	908	c.322G>A	c.(322-324)GCA>ACA	p.A108T	NDRG1_uc003yug.2_Missense_Mutation_p.A108T|NDRG1_uc010mee.2_Missense_Mutation_p.A27T|NDRG1_uc010mef.2_Missense_Mutation_p.A42T|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	108					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	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)			TCTCACCCTGCGGGGAAGGAG	0.587													T	134274294	C	T	134274294	3	4	273	1	0	0	0	0	1	0	0	0	10251	768	27	1	910	1	NDRG1	8	134274294	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	145400	134274294	12089728	847	138144											
FAM135B	51059	broad.mit.edu	37	chr8	139164232	139164232	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctaaaactatctccaccAggggatggtctgctccagca	8	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:139164232A>C	uc003yuy.2	-	13	2657	c.2486T>G	c.(2485-2487)CTG>CGG	p.L829R	FAM135B_uc003yux.2_Missense_Mutation_p.L730R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L391R|FAM135B_uc003yvb.2_Missense_Mutation_p.L391R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	829										ovary(7)|skin(2)	9	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)			TATCTCCACCAGGGGATGGTC	0.512										HNSCC(54;0.14)			C	139164232	A	C	139164232	3	2	273	1	0	0	0	0	1	0	0	0	5449	188	7	5	1766	5	FAM135B	8	139164232	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4889938	139164232	7199790	848	138145											
CHRAC1	54108	broad.mit.edu	37	chr8	141524535	141524535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaggaaaagaaagtacTgacttacagtgatttagcaa	10	4	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:141524535T>C	uc003yvl.2	+	2	413	c.215T>C	c.(214-216)CTG>CCG	p.L72P	CHRAC1_uc010mem.1_Intron	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	72					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(1)	1	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)			AAGAAAGTACTGACTTACAGT	0.373													C	141524535	T	C	141524535	3	2	273	1	0	0	0	0	1	0	0	0	3371	1580	55	3	221	3	CHRAC1	8	141524535	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2360303	141524535	4839487	849	138146											
FLJ43860	389690	broad.mit.edu	37	chr8	142446014	142446014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggggtgggcactgaccGtggcgacagctgggcattgg	18	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:142446014G>A	uc003ywi.2	-	28	3635	c.3554C>T	c.(3553-3555)ACG>ATG	p.T1185M	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1185							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GGCACTGACCGTGGCGACAGC	0.667													A	142446014	G	A	142446014	3	1	273	1	0	0	0	0	1	0	0	0	5930	1159	40	1	422	1	FLJ43860	8	142446014	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	921479	142446014	3918008	850	138147											
BAI1	575	broad.mit.edu	37	chr8	143623520	143623520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccaaccactcactgaccCtcaagagggacaaggcgccc	8	18	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:143623520C>A	uc003ywm.2	+	27	4108	c.3925C>A	c.(3925-3927)CTC>ATC	p.L1309I		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1309	Cytoplasmic (Potential).				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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					CTCACTGACCCTCAAGAGGGA	0.647													A	143623520	C	A	143623520	3	1	273	1	0	0	0	0	1	0	0	0	1298	681	24	5	4031	5	BAI1	8	143623520	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1177506	143623520	2740502	851	138148											
GML	2765	broad.mit.edu	37	chr8	143928051	143928051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaactgtgaggctgggggTatcaaaactgttgctgagtt	15	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:143928051T>C	uc003yxg.2	+	4	512	c.422T>C	c.(421-423)GTA>GCA	p.V141A		NM_002066	NP_002057	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule	141					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				central_nervous_system(2)	2	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGGCTGGGGGTATCAAAACTG	0.483													C	143928051	T	C	143928051	3	2	273	1	0	0	0	0	1	0	0	0	6492	1638	57	3	432	3	GML	8	143928051	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	304531	143928051	2435971	852	138149											
ZFP41	286128	broad.mit.edu	37	chr8	144332268	144332268	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attccttttcagaggaagaaAccctatgagtgcagtgagtg	11	7	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144332268A>C	uc003yxw.2	+	2	613	c.255A>C	c.(253-255)AAA>AAC	p.K85N	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	85					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			AGAGGAAGAAACCCTATGAGT	0.502													C	144332268	A	C	144332268	3	2	273	1	0	0	0	0	1	0	0	0	17646	40	2	5	257	5	ZFP41	8	144332268	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	404217	144332268	2031754	853	138150											
EEF1D	1936	broad.mit.edu	37	chr8	144662696	144662696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgacatccagcaggaTggaggacttggccaccagtg	14	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144662696T>C	uc011lki.1	-	6	861	c.592A>G	c.(592-594)ATC>GTC	p.I198V	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.I540V|EEF1D_uc003yyq.1_Missense_Mutation_p.I614V|EEF1D_uc011lkj.1_Missense_Mutation_p.I563V|EEF1D_uc003yyr.2_Missense_Mutation_p.I564V|EEF1D_uc003yyt.2_Missense_Mutation_p.I564V|EEF1D_uc011lkk.1_Missense_Mutation_p.I198V|EEF1D_uc003yys.2_Missense_Mutation_p.I198V|EEF1D_uc003yyv.2_Missense_Mutation_p.I174V|EEF1D_uc003yyu.2_Missense_Mutation_p.I198V|EEF1D_uc011lkl.1_Missense_Mutation_p.I179V	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	198					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			ovary(1)|kidney(1)|skin(1)	3	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)			TCCAGCAGGATGGAGGACTTG	0.677													C	144662696	T	C	144662696	3	2	273	1	0	0	0	0	1	0	0	0	4926	1464	51	3	265	3	EEF1D	8	144662696	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	330428	144662696	1701326	854	138151											
TSTA3	7264	broad.mit.edu	37	chr8	144698770	144698770	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagaggagacaaacaccCagtcctctccaggaagtcca	8	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144698770C>T	uc003yza.2	-	2	149	c.113G>A	c.(112-114)TGG>TAG	p.W38*	TSTA3_uc003yzb.2_Nonsense_Mutation_p.W38*|TSTA3_uc011lko.1_Nonsense_Mutation_p.W38*	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	38	NADP (Potential).				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GACAAACACCCAGTCCTCTCC	0.567													T	144698770	C	T	144698770	4	4	273	1	0	0	0	0	0	1	0	0	16671	595	21	4	892	4	TSTA3	8	144698770	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	36074	144698770	1665252	855	138152											
EPPK1	83481	broad.mit.edu	37	chr8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-													ggtgctgtgggtcgatgacaCcccccgtggccacctgcacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144941377_144941377AC>A	uc003zaa.1	-	0	6058	c.6045_6045GT>T	c.(6043-6045)ggtfs	p.G2015fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2015						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)			GGTCGATGACACCCCCCGTGG	0.622													-	144941378	C	-	144941378	7	5	273	1	0	1	0	1	0	0	0	0	5190	507	18	0	1222	0	EPPK1	8	144941378	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	242608	144941378	1422644	856	138153											
EPPK1	83481	broad.mit.edu	37	chr8	144945478	144945478	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgatgaagcctgtggcAgcttgtgcctccagaaggat	13	9	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144945478A>G	uc003zaa.1	-	1	1957	c.1944T>C	c.(1942-1944)GCT>GCC	p.A648A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	648	Plectin 12.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			AGCCTGTGGCAGCTTGTGCCT	0.617													G	144945478	A	G	144945478	2	3	273	1	0	0	0	0	0	0	0	1	5190	175	7	3		3	EPPK1	8	144945478	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4100	144945478	1418544	857	138154											
PLEC	5339	broad.mit.edu	37	chr8	144993691	144993691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtctctgtagccggtgAcggccttctcggcagacagc	15	12	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144993691A>G	uc003zaf.1	-	32	10879	c.10709T>C	c.(10708-10710)GTC>GCC	p.V3570A	PLEC_uc003zab.1_Missense_Mutation_p.V3433A|PLEC_uc003zac.1_Missense_Mutation_p.V3437A|PLEC_uc003zad.2_Missense_Mutation_p.V3433A|PLEC_uc003zae.1_Missense_Mutation_p.V3401A|PLEC_uc003zag.1_Missense_Mutation_p.V3411A|PLEC_uc003zah.2_Missense_Mutation_p.V3419A|PLEC_uc003zaj.2_Missense_Mutation_p.V3460A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3570	Plectin 14.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTAGCCGGTGACGGCCTTCTC	0.677													G	144993691	A	G	144993691	3	3	273	1	0	0	0	0	1	0	0	0	12052	275	10	3	3349	3	PLEC	8	144993691	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	48213	144993691	1370331	858	138155											
PLEC	5339	broad.mit.edu	37	chr8	144993786	144993786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcgctggttccgcacGgggtccaccaggaagccagt	14	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144993786G>A	uc003zaf.1	-	32	10784	c.10614C>T	c.(10612-10614)CCC>CCT	p.P3538P	PLEC_uc003zab.1_Silent_p.P3401P|PLEC_uc003zac.1_Silent_p.P3405P|PLEC_uc003zad.2_Silent_p.P3401P|PLEC_uc003zae.1_Silent_p.P3369P|PLEC_uc003zag.1_Silent_p.P3379P|PLEC_uc003zah.2_Silent_p.P3387P|PLEC_uc003zaj.2_Silent_p.P3428P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3538	Plectin 13.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTTCCGCACGGGGTCCACCA	0.697													A	144993786	G	A	144993786	2	1	273	1	0	0	0	0	0	0	0	1	12052	1103	39	1		1	PLEC	8	144993786	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	95	144993786	1370236	859	138156											
SHARPIN	81858	broad.mit.edu	37	chr8	145153893	145153893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaaggacaggaccagCtgggctgggggaagagagac	19	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145153893C>T	uc003zba.2	-	8	1536	c.1052G>A	c.(1051-1053)AGC>AAC	p.S351N	SHARPIN_uc003zbb.2_RNA	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	351	RanBP2-type.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	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;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGACCAGCTGGGCTGGGG	0.627													T	145153893	C	T	145153893	3	4	273	1	0	0	0	0	1	0	0	0	14267	797	28	2	115	2	SHARPIN	8	145153893	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	160107	145153893	1210129	860	138157											
FBXL6	26233	broad.mit.edu	37	chr8	145579191	145579191	+	Nonstop_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccaggtctgtggctgcCtagctgggtgaggggctggt	18	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145579191C>A	uc003zcb.2	-	9	1645	c.1620G>T	c.(1618-1620)TAG>TAT	p.*540Y	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_Translation_Start_Site|FBXL6_uc003zbz.2_Nonstop_Mutation_p.*267Y|FBXL6_uc003zca.2_Nonstop_Mutation_p.*534Y|FBXL6_uc010mfx.2_Nonstop_Mutation_p.*301Y	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	540					proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	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)			CTGTGGCTGCCTAGCTGGGTG	0.572													A	145579191	C	A	145579191	4	1	273	1	0	0	0	0	0	0	0	0	5723	692	24	5	3	5	FBXL6	8	145579191	Nonstop_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	425298	145579191	784831	861	138158											
FBXL6	26233	broad.mit.edu	37	chr8	145579803	145579803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccacttctgggtcaaaaAggggctgccctccttggcta	11	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145579803A>G	uc003zcb.2	-	8	1322	c.1297T>C	c.(1297-1299)TTT>CTT	p.F433L	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.F160L|FBXL6_uc003zca.2_Missense_Mutation_p.F427L|FBXL6_uc010mfx.2_Missense_Mutation_p.F194L|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	433	LRR 9.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	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)			TGGGTCAAAAAGGGGCTGCCC	0.572													G	145579803	A	G	145579803	3	3	273	1	0	0	0	0	1	0	0	0	5723	72	3	3	330	3	FBXL6	8	145579803	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	612	145579803	784219	862	138159											
ADCK5	203054	broad.mit.edu	37	chr8	145616151	145616151	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaacgggggcctctacgtGaagctgggccaggggctgtg	18	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145616151G>A	uc003zch.2	+	5	492	c.438G>A	c.(436-438)GTG>GTA	p.V146V	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	146						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	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)			GCCTCTACGTGAAGCTGGGCC	0.662													A	145616151	G	A	145616151	2	1	273	1	0	0	0	0	0	0	0	1	291	1277	45	4		4	ADCK5	8	145616151	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	36348	145616151	747871	863	138160											
ADCK5	203054	broad.mit.edu	37	chr8	145616391	145616391	+	Frame_Shift_Del	DEL	T	T	-													cccacgagctcttccaggagTttgactaccagccaattgct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145616390_145616390GT>G	uc003zch.3	+	5	654	c.600_600GT>G	c.(598-600)gagfs	p.E200fs	ADCK5_uc003zci.3_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	200	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)			TCTTCCAGGAGTTTGACTACC	0.617													-	145616391	T	-	145616391	7	5	273	1	0	1	0	1	0	0	0	0	291	1725	60	0	623	0	ADCK5	8	145616391	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	240	145616391	747631	864	138161											
CPSF1	29894	broad.mit.edu	37	chr8	145619255	145619255	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccgaaactctccttggcTagaccagaaaggcctagggg	11	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145619255T>C	uc003zcj.2	-	35	3935	c.3860_splice	c.e35-1	p.A1287_splice		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,						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			skin(1)	1	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)			TCTCCTTGGCTAGACCAGAAA	0.657													C	145619255	T	C	145619255	5	2	273	1	0	0	0	0	0	0	1	0	3824	1536	53	3	489	3	CPSF1	8	145619255	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2864	145619255	744767	865	138162											
KIFC2	90990	broad.mit.edu	37	chr8	145698024	145698024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaaccagcgcagctcccGctcgcatgccctggtcacgc	10	18	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145698024G>A	uc003zcz.2	+	16	1861	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	KIFC2_uc003zda.2_5'UTR	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	599	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)			CGCAGCTCCCGCTCGCATGCC	0.721													A	145698024	G	A	145698024	3	1	273	1	0	0	0	0	1	0	0	0	8313	1087	38	1	1858	1	KIFC2	8	145698024	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	78769	145698024	665998	866	138163											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773476	145773476	+	Frame_Shift_Del	DEL	C	C	-													cccgccagcctcgaattgcaCgtccatggggggctcatcgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145773475_145773475AC>A	uc003zds.1	-	5	1550	c.995_995GT>T	c.(994-996)gtgfs	p.V332fs	ARHGAP39_uc011llk.1_Frame_Shift_Del_p.V332fs|ARHGAP39_uc003zdt.1_Frame_Shift_Del_p.V332fs	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	332	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	p.V332M(1)		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						CTCGAATTGCACGTCCATGGG	0.706													-	145773476	C	-	145773476	7	5	273	1	0	1	0	1	0	0	0	0	884	536	19	0	2382	0	ARHGAP39	8	145773476	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	75452	145773476	590546	867	138164											
ZNF517	340385	broad.mit.edu	37	chr8	146029087	146029087	+	Frame_Shift_Del	DEL	C	C	-													gatagagtggagttgcctggCccccgaccagcaggcactct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:146029086_146029086GC>G	uc003zed.1	+	2	201	c.94_94GC>G	c.(94-96)gccfs	p.A32fs	ZNF517_uc010mgd.1_5'UTR|ZNF517_uc003zee.1_Non-coding_Transcript|ZNF517_uc011llm.1_Intron|ZNF517_uc003zef.1_Frame_Shift_Del_p.A32fs	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Homo sapiens zinc finger protein 517 (ZNF517), mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	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)			GAGTTGCCTGGCCCCCGACCA	0.587													-	146029087	C	-	146029087	7	5	273	1	0	1	0	1	0	0	0	0	17958	739	26	0	101	0	ZNF517	8	146029087	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	255611	146029087	334935	868	138165											
C8orf33	65265	broad.mit.edu	37	chr8	146277881	146277881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcgactgcggcgcatgGcggtgagcggtgtggagaag	22	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:146277881G>T	uc003zfc.3	+	1	58	c.4G>T	c.(4-6)GCG>TCG	p.A2S	C8orf33_uc003zfd.2_5'Flank	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	2											0	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)		GCGGCGCATGGCGGTGAGCGG	0.642													T	146277881	G	T	146277881	3	4	273	1	0	0	0	0	1	0	0	0	2421	1203	42	5	6	5	C8orf33	8	146277881	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	248794	146277881	86141	869	138166											
DOCK8	81704	broad.mit.edu	37	chr9	420992	420992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtacccaagtcctgcagaAgtcaagggatgtcaaggccc	11	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:420992A>C	uc003zgf.2	+	32	4179	c.4067A>C	c.(4066-4068)AAG>ACG	p.K1356T	DOCK8_uc010mgu.2_Missense_Mutation_p.K658T|DOCK8_uc010mgv.2_Missense_Mutation_p.K1256T|DOCK8_uc003zgk.2_Missense_Mutation_p.K814T	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1356	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		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)		GTCCTGCAGAAGTCAAGGGAT	0.577													C	420992	A	C	420992	3	2	273	1	0	0	0	0	1	0	0	0	4693	72	3	5	4193	5	DOCK8	9	420992	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08		420992	140792439	870	138167											
CDC37L1	55664	broad.mit.edu	37	chr9	4688589	4688589	+	Frame_Shift_Del	DEL	A	A	-													atttatgcaaaaatatgagcAaaaaatcagacattttggta							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:4688588_4688588CA>C	uc003zio.3	+	2	692	c.490_490CA>C	c.(490-492)caafs	p.Q164fs		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	164	Self-association and interaction with Hsp90.|Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AAAATATGAGCAAAAAATCAG	0.249													-	4688589	A	-	4688589	7	5	273	1	0	1	0	1	0	0	0	0	3069	130	5	0	501	0	CDC37L1	9	4688589	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	4267597	4688589	136524842	871	138168											
KDM4C	23081	broad.mit.edu	37	chr9	7103815	7103815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtactgatggagcctgatgActggccttatgtggtgaaca	14	7	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:7103815A>G	uc003zkh.2	+	18	3135	c.2555A>G	c.(2554-2556)GAC>GGC	p.D852G	KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.D852G|KDM4C_uc011lmk.1_Missense_Mutation_p.D597G|KDM4C_uc011lml.1_Missense_Mutation_p.D539G	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	852	PHD-type 2.				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			ovary(1)	1						GAGCCTGATGACTGGCCTTAT	0.448													G	7103815	A	G	7103815	3	3	273	1	0	0	0	0	1	0	0	0	8130	275	10	3	2713	3	KDM4C	9	7103815	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2415226	7103815	134109616	872	138169											
MPDZ	8777	broad.mit.edu	37	chr9	13136156	13136156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttccaggacatacggCcatctgattcactgcatctt	7	12	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:13136156C>T	uc010mia.1	-	30	4375	c.4318G>A	c.(4318-4320)GCC>ACC	p.A1440T	MPDZ_uc003zky.3_Missense_Mutation_p.A2T|MPDZ_uc010mib.2_Missense_Mutation_p.A145T|MPDZ_uc010mhx.2_Missense_Mutation_p.A262T|MPDZ_uc011lmm.1_Missense_Mutation_p.A299T|MPDZ_uc003zkz.3_Missense_Mutation_p.A133T|MPDZ_uc010mhy.2_Missense_Mutation_p.A1440T|MPDZ_uc010mhz.2_Missense_Mutation_p.A1407T|MPDZ_uc011lmn.1_Missense_Mutation_p.A1407T|MPDZ_uc003zlb.3_Missense_Mutation_p.A1440T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1440					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GGACATACGGCCATCTGATTC	0.343													T	13136156	C	T	13136156	3	4	273	1	0	0	0	0	1	0	0	0	9722	739	26	2	1871	2	MPDZ	9	13136156	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6032341	13136156	128077275	873	138170											
MPDZ	8777	broad.mit.edu	37	chr9	13247747	13247747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatttgctacatccccacGttctcgcagcttggtttgca	7	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:13247747G>A	uc010mia.1	-	2	127	c.70C>T	c.(70-72)CGT>TGT	p.R24C	MPDZ_uc010mhy.2_Missense_Mutation_p.R24C|MPDZ_uc010mhz.2_Missense_Mutation_p.R24C|MPDZ_uc011lmn.1_Missense_Mutation_p.R24C|MPDZ_uc003zlb.3_Missense_Mutation_p.R24C	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	24	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACATCCCCACGTTCTCGCAGC	0.483													A	13247747	G	A	13247747	3	1	273	1	0	0	0	0	1	0	0	0	9722	1145	40	1	6231	1	MPDZ	9	13247747	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	111591	13247747	127965684	874	138171											
FREM1	158326	broad.mit.edu	37	chr9	14737553	14737553	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcaacaggttcaccaccGatccactcccagtggccagc	9	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:14737553G>A	uc003zlm.2	-	37	6971	c.6381C>T	c.(6379-6381)ATC>ATT	p.I2127I	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Silent_p.I663I	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2127	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTCACCACCGATCCACTCCC	0.453													A	14737553	G	A	14737553	2	1	273	1	0	0	0	0	0	0	0	1	6044	1048	37	1		1	FREM1	9	14737553	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1489806	14737553	126475878	875	138172											
MLLT3	4300	broad.mit.edu	37	chr9	20413989	20413989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagaatctgaaatgggCggccttttactaggagcctt	10	9	3	2	rs146067491	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:20413989C>T	uc003zoe.2	-	5	1114	c.855G>A	c.(853-855)CCG>CCA	p.P285P	MLLT3_uc011lne.1_Silent_p.P253P|MLLT3_uc011lnf.1_Silent_p.P282P|MLLT3_uc003zof.2_Silent_p.P86P	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTGAAATGGGCGGCCTTTTAC	0.418			T	MLL	ALL								T	20413989	C	T	20413989	2	4	273	1	0	0	0	0	0	0	0	1	9628	755	27	1		1	MLLT3	9	20413989	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5676436	20413989	120799442	876	138173											
PTPLAD2	401494	broad.mit.edu	37	chr9	21029383	21029383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaatagatgaaaagatacGcattcttcctatacctataa	5	7	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:21029383G>A	uc010miq.1	-	2	99	c.53C>T	c.(52-54)GCG>GTG	p.A18V	PTPLAD2_uc003zoj.1_5'UTR|PTPLAD2_uc010mir.1_Missense_Mutation_p.A18V	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain	18	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			skin(1)	1				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GAAAAGATACGCATTCTTCCT	0.338													A	21029383	G	A	21029383	3	1	273	1	0	0	0	0	1	0	0	0	12776	1087	38	1	669	1	PTPLAD2	9	21029383	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	615394	21029383	120184048	877	138174											
IFNW1	3467	broad.mit.edu	37	chr9	21141445	21141445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagattctcctcatttggTgcagaagcaccaaggtgttc	12	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:21141445T>C	uc003zol.1	-	1	700	c.125A>G	c.(124-126)CAC>CGC	p.H42R		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1 precursor	42				H -> M (in Ref. 8; AA sequence).	cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCATTTGGTGCAGAAGCAC	0.527													C	21141445	T	C	21141445	3	2	273	1	0	0	0	0	1	0	0	0	7552	1696	59	3	466	3	IFNW1	9	21141445	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	112062	21141445	120071986	878	138175											
KLHL9	55958	broad.mit.edu	37	chr9	21333640	21333640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcaccagctgcactgcGcccaccaactgcatacaaat	6	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:21333640G>A	uc003zoy.2	-	1	1790	c.1219C>T	c.(1219-1221)CGC>TGC	p.R407C	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	407	Kelch 3.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.R407C(1)		ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCTGCACTGCGCCCACCAACT	0.448													A	21333640	G	A	21333640	3	1	273	1	0	0	0	0	1	0	0	0	8396	1087	38	1	638	1	KLHL9	9	21333640	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	192195	21333640	119879791	879	138176											
NOL6	65083	broad.mit.edu	37	chr9	33464082	33464082	+	Frame_Shift_Del	DEL	G	G	-													cacagagtttttgcggtcttGgggggtaacaatgaccatga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:33464082delG	uc003zsz.2	-	22	2958	c.2857delC	c.(2857-2859)CAAfs	p.Q953fs	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Frame_Shift_Del_p.Q7fs|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Frame_Shift_Del_p.Q950fs|NOL6_uc011lob.1_Frame_Shift_Del_p.Q901fs|NOL6_uc003ztb.1_Frame_Shift_Del_p.Q953fs	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	953					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTGCGGTCTTGGGGGGTAACA	0.567													-	33464082	G	-	33464082	7	5	273	1	0	1	0	1	0	0	0	0	10525	1357	47	0	603	0	NOL6	9	33464082	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	12130442	33464082	107749349	880	138177											
DCAF12	25853	broad.mit.edu	37	chr9	34125105	34125106	+	Frame_Shift_Del	DEL	CT	CT	-													ttaagggtcccaaggtgaaaCtctctctccttcaggagact							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:34125105_34125106delCT	uc003ztt.2	-	2	590_591	c.248_249delAG	c.(247-249)GAGfs	p.E83fs		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	83						centrosome|CUL4 RING ubiquitin ligase complex					0						CAAGGTGAAACTCTCTCTCCTT	0.49													-	34125106	CT	-	34125105	7	5	273	1	0	1	0	1	0	0	0	0	4263	564	20	0	1144	0	DCAF12	9	34125105	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GT-01A-21D-A25D-08	661023	34125105	107088326	881	138178											
DNAJB5	25822	broad.mit.edu	37	chr9	34996747	34996747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccccaaagaaggcgacGccacacctgacaacatccct	6	18	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:34996747G>A	uc003zvt.2	+	3	835	c.697G>A	c.(697-699)GCC>ACC	p.A233T	DNAJB5_uc003zvs.2_Missense_Mutation_p.A267T|DNAJB5_uc011los.1_Missense_Mutation_p.A305T	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	233					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAAGGCGACGCCACACCTGA	0.562													A	34996747	G	A	34996747	3	1	273	1	0	0	0	0	1	0	0	0	4623	1087	38	1	923	1	DNAJB5	9	34996747	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	871642	34996747	106216684	882	138179											
VCP	7415	broad.mit.edu	37	chr9	35062112	35062112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacaactgtgatacaatGcgccgctccacctcgccatg	8	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35062112G>A	uc003zvy.2	-	9	1358	c.969C>T	c.(967-969)CGC>CGT	p.R323R	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Silent_p.R278R	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	323					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			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGATACAATGCGCCGCTCCA	0.537													A	35062112	G	A	35062112	2	1	273	1	0	0	0	0	0	0	0	1	17137	1306	46	2		2	VCP	9	35062112	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	65365	35062112	106151319	883	138180											
TLN1	7094	broad.mit.edu	37	chr9	35706862	35706862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgttcagagctgcaatgGccgtttcacactccagctgc	9	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35706862G>A	uc003zxt.2	-	38	5345	c.4991C>T	c.(4990-4992)GCC>GTC	p.A1664V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1664	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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGCAATGGCCGTTTCACA	0.582													A	35706862	G	A	35706862	3	1	273	1	0	0	0	0	1	0	0	0	15944	1203	42	2	2714	2	TLN1	9	35706862	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	644750	35706862	105506569	884	138181											
GBA2	57704	broad.mit.edu	37	chr9	35737837	35737837	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagggacaccatggggctGcatcccattcacagccccca	9	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35737837G>A	uc003zxw.2	-	16	2937	c.2413C>T	c.(2413-2415)CAG>TAG	p.Q805*	GBA2_uc003zxx.1_Nonsense_Mutation_p.Q100*|GBA2_uc011lpb.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpc.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpd.1_Nonsense_Mutation_p.Q811*	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	805	Cytoplasmic (Potential).				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			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCATGGGGCTGCATCCCATTC	0.552													A	35737837	G	A	35737837	4	1	273	1	0	0	0	0	0	1	0	0	6267	1328	46	2	378	2	GBA2	9	35737837	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	30975	35737837	105475594	885	138182											
OR13J1	392309	broad.mit.edu	37	chr9	35869823	35869823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtcttcgctgaccgaCgtgttgccgcatgccagctt	12	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35869823C>T	uc011lph.1	-	1	576	c.576G>A	c.(574-576)ACG>ACA	p.T192T		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CGCTGACCGACGTGTTGCCGC	0.597													T	35869823	C	T	35869823	2	4	273	1	0	0	0	0	0	0	0	1	10944	523	19	1		1	OR13J1	9	35869823	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	131986	35869823	105343608	886	138183											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	12	3	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					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			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443													T	70993121	C	T	70993121	4	4	273	1	0	0	0	0	0	1	0	0	11801	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	35123298	70993121	70220310	887	138184											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	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			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	273	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	24	70993145	70220286	888	138185											
PRKACG	5568	broad.mit.edu	37	chr9	71628079	71628081	+	In_Frame_Del	DEL	CTT	CTT	-													gggatgaagggagcttccacCttcttctcatagatggcgat					rs41296338	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:71628079_71628081delCTT	uc004agy.2	-	1	959_961	c.928_930delAAG	c.(928-930)AAGdel	p.K310del		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	310	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			ovary(1)|pancreas(1)|skin(1)	3						GAGCTTCCACCTTCTTCTCATAG	0.547													-	71628081	CTT	-	71628079	7	5	273	1	0	1	0	1	0	0	0	0	12499	680	24	0	129	0	PRKACG	9	71628079	In_Frame_Del	DEL	CTT	TCGA-HU-A4GT-01A-21D-A25D-08	634934	71628079	69585352	889	138186											
SMC5	23137	broad.mit.edu	37	chr9	72962552	72962554	+	In_Frame_Del	DEL	AGA	AGA	-													gttcaggaatatacaaaaagAgaagaagaaatagaacagtt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:72962552_72962554delAGA	uc004ahr.2	+	21	2805_2807	c.2688_2690delAGA	c.(2686-2691)AGAGAA>AGA	p.E899del	SMC5_uc011lry.1_In_Frame_Del_p.E44del	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	899	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						ATACAAAAAGAGAAGAAGAAATA	0.286													-	72962554	AGA	-	72962552	7	5	273	1	0	1	0	1	0	0	0	0	14786	301	11	0	2770	0	SMC5	9	72962552	In_Frame_Del	DEL	AGA	TCGA-HU-A4GT-01A-21D-A25D-08	1334473	72962552	68250879	890	138187											
TRPM6	140803	broad.mit.edu	37	chr9	77377698	77377698	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctcaagaagtgccccccTctgcactcttgggggatgcc	10	14	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:77377698T>G	uc004ajl.1	-	26	4127	c.3889A>C	c.(3889-3891)AGG>CGG	p.R1297R	TRPM6_uc004ajk.1_Silent_p.R1292R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.R253R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1297	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AGTGCCCCCCTCTGCACTCTT	0.478													G	77377698	T	G	77377698	2	3	273	1	0	0	0	0	0	0	0	1	16587	1550	54	5		5	TRPM6	9	77377698	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4415146	77377698	63835733	891	138188											
PSAT1	29968	broad.mit.edu	37	chr9	80919716	80919716	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggccagttcagtgctgTccccttaaacctcattggct	10	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:80919716T>A	uc004ala.2	+	4	325	c.257T>A	c.(256-258)GTC>GAC	p.V86D	PSAT1_uc004alb.2_Missense_Mutation_p.V86D	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	86					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTCAGTGCTGTCCCCTTAAAC	0.493													A	80919716	T	A	80919716	3	1	273	1	0	0	0	0	1	0	0	0	12644	1667	58	5	271	5	PSAT1	9	80919716	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3542018	80919716	60293715	892	138189											
RASEF	158158	broad.mit.edu	37	chr9	85615234	85615234	+	Splice_Site	DEL	G	G	-													gtcatctaccaggtctgtctGgggggaaaagccacagtgaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:85615233_85615233TG>T	uc004amo.1	-	12	1837	c.1576_splice	c.e12-1	p.T526_splice		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	526					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion 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						CAGGTCTGTCTGGGGGGAAAA	0.443													-	85615234	G	-	85615234	8	5	273	1	0	1	0	1	0	0	1	0	13068	1363	47	0		0	RASEF	9	85615234	Splice_Site	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	4695518	85615234	55598197	893	138190											
NTRK2	4915	broad.mit.edu	37	chr9	87342632	87342632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactggtgcattccattcaCtgtgaaaggcaaccccaaac	7	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:87342632C>T	uc004aoa.1	+	11	1855	c.917C>T	c.(916-918)ACT>ATT	p.T306I	NTRK2_uc004anv.1_Missense_Mutation_p.T293I|NTRK2_uc004any.1_Missense_Mutation_p.T306I|NTRK2_uc004anz.1_Missense_Mutation_p.T306I|NTRK2_uc011lsz.1_Missense_Mutation_p.T306I|NTRK2_uc011lta.1_Missense_Mutation_p.T306I|NTRK2_uc004aob.1_Missense_Mutation_p.T306I|NTRK2_uc011ltb.1_Missense_Mutation_p.T150I	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	306	Extracellular (Potential).|Ig-like C2-type 2.				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			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						ATTCCATTCACTGTGAAAGGC	0.408										TSP Lung(25;0.17)			T	87342632	C	T	87342632	3	4	273	1	0	0	0	0	1	0	0	0	10707	565	20	4	947	4	NTRK2	9	87342632	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1727398	87342632	53870799	894	138191											
S1PR3	1903	broad.mit.edu	37	chr9	91616825	91616825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccacaacaactcggagcGgtccatggcactgctgcgga	11	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:91616825G>A	uc004aqe.2	+	2	1106	c.710G>A	c.(709-711)CGG>CAG	p.R237Q		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	237	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						AACTCGGAGCGGTCCATGGCA	0.582													A	91616825	G	A	91616825	3	1	273	1	0	0	0	0	1	0	0	0	13795	1116	39	1	712	1	S1PR3	9	91616825	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4274193	91616825	49596606	895	138192											
DIRAS2	54769	broad.mit.edu	37	chr9	93376078	93376078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgccagccccaaacacgGccacccggtaatcgttactc	7	19	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:93376078G>A	uc004aqx.1	-	2	143	c.32C>T	c.(31-33)GCC>GTC	p.A11V		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	11					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0						CCCAAACACGGCCACCCGGTA	0.542													A	93376078	G	A	93376078	3	1	273	1	0	0	0	0	1	0	0	0	4531	1203	42	2	571	2	DIRAS2	9	93376078	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1759253	93376078	47837353	896	138193											
ROR2	4920	broad.mit.edu	37	chr9	94538101	94538101	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccagaacctccacttcacCtgggaaaaagaaaccaggat	7	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:94538101C>A	uc004arj.1	-	2	297	c.98_splice	c.e2-1	p.G33_splice	ROR2_uc004ari.1_Splice_Site|ROR2_uc004ark.2_Splice_Site_p.G33_splice	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						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			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						TCCACTTCACCTGGGAAAAAG	0.478											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	94538101	C	A	94538101	5	1	273	1	0	0	0	0	0	0	1	0	13527	695	24	5	2766	5	ROR2	9	94538101	Splice_Site	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1162023	94538101	46675330	897	138194											
OGN	4969	broad.mit.edu	37	chr9	95152157	95152157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgcatttgctttgatTcccctactcttgattttgtt	6	8	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:95152157T>C	uc004asa.2	-	5	844	c.609A>G	c.(607-609)GGA>GGG	p.G203G	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Silent_p.G203G|OGN_uc011ltx.1_Silent_p.G221G	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein	203	LRR 5.					extracellular space|proteinaceous extracellular matrix	growth factor activity				0						TTGCTTTGATTCCCCTACTCT	0.308													C	95152157	T	C	95152157	2	2	273	1	0	0	0	0	0	0	0	1	10846	1770	62	3		3	OGN	9	95152157	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	614056	95152157	46061274	898	138195											
ECM2	1842	broad.mit.edu	37	chr9	95267870	95267870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatttattttttcccagaCgcaagtaggctaggctcttc	7	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:95267870C>T	uc004ash.2	-	7	1474	c.1409G>A	c.(1408-1410)CGT>CAT	p.R470H	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.R448H|ECM2_uc011lty.1_Missense_Mutation_p.R470H|ECM2_uc004asg.2_Missense_Mutation_p.R448H|ECM2_uc010mqz.1_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	470	LRR 5.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						TTTTCCCAGACGCAAGTAGGC	0.333													T	95267870	C	T	95267870	3	4	273	1	0	0	0	0	1	0	0	0	4898	536	19	1	706	1	ECM2	9	95267870	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	115713	95267870	45945561	899	138196											
HIATL1	84641	broad.mit.edu	37	chr9	97216241	97216241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcctttactttgcagaCggcctttcttagcatcttga	7	11	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:97216241C>T	uc004aur.2	+	9	1186	c.917C>T	c.(916-918)ACG>ATG	p.T306M	HIATL1_uc011luh.1_Missense_Mutation_p.T241M	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	306	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				ACTTTGCAGACGGCCTTTCTT	0.443													T	97216241	C	T	97216241	3	4	273	1	0	0	0	0	1	0	0	0	7098	550	19	1	951	1	HIATL1	9	97216241	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1948371	97216241	43997190	900	138197											
SLC35D2	11046	broad.mit.edu	37	chr9	99084346	99084346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgattaatatcccaatgTaggcaacggatacattctgc	7	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:99084346T>C	uc004awc.2	-	11	924	c.848A>G	c.(847-849)TAC>TGC	p.Y283C	SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Missense_Mutation_p.Y236C|SLC35D2_uc010msf.2_Missense_Mutation_p.Y195C|SLC35D2_uc004awd.2_Silent_p.L125L	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2	283	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				TATCCCAATGTAGGCAACGGA	0.343													C	99084346	T	C	99084346	3	2	273	1	0	0	0	0	1	0	0	0	14582	1638	57	3	173	3	SLC35D2	9	99084346	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1868105	99084346	42129085	901	138198											
KIAA1529	57653	broad.mit.edu	37	chr9	100070292	100070292	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattgagacaccaaagcctaGacgcgtttcctggacgacgg	11	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:100070292G>A	uc011lut.1	+	14	1269	c.496G>A	c.(496-498)GAC>AAC	p.D166N	KIAA1529_uc004axe.1_Missense_Mutation_p.D166N|KIAA1529_uc004axg.1_Missense_Mutation_p.D27N|KIAA1529_uc011lus.1_Missense_Mutation_p.D27N|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.D27N|KIAA1529_uc011luv.1_Missense_Mutation_p.D27N	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CCAAAGCCTAGACGCGTTTCC	0.612													A	100070292	G	A	100070292	3	1	273	1	0	0	0	0	1	0	0	0	8240	942	33	4	514	4	KIAA1529	9	100070292	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	985946	100070292	41143139	902	138199											
TMOD1	7111	broad.mit.edu	37	chr9	100328170	100328170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggcatatgcagaagcccTgaaagaaaactcatatgtga	9	8	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:100328170T>C	uc004axk.1	+	7	872	c.659T>C	c.(658-660)CTG>CCG	p.L220P	TMOD1_uc004axl.1_Missense_Mutation_p.L220P	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	220					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GCAGAAGCCCTGAAAGAAAAC	0.507													C	100328170	T	C	100328170	3	2	273	1	0	0	0	0	1	0	0	0	16230	1580	55	3	681	3	TMOD1	9	100328170	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	257878	100328170	40885261	903	138200											
XPA	7507	broad.mit.edu	37	chr9	100456024	100456024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaattatctttggggctgCttttacattagccatgccta	8	9	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:100456024C>T	uc004axr.3	-	2	307	c.190G>A	c.(190-192)GCA>ACA	p.A64T	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	64	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				TTTGGGGCTGCTTTTACATTA	0.358			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				T	100456024	C	T	100456024	3	4	273	1	0	0	0	0	1	0	0	0	17437	797	28	2	651	2	XPA	9	100456024	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	127854	100456024	40757407	904	138201											
BAAT	570	broad.mit.edu	37	chr9	104130442	104130442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttggcagcctcctcaaaaTattccaaatctgttacttct	5	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:104130442T>C	uc010mtd.2	-	3	738	c.629A>G	c.(628-630)TAT>TGT	p.Y210C	BAAT_uc004bbd.3_Missense_Mutation_p.Y210C	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	210					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCCTCAAAATATTCCAAATC	0.448													C	104130442	T	C	104130442	3	2	273	1	0	0	0	0	1	0	0	0	1280	1406	49	3	635	3	BAAT	9	104130442	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3674418	104130442	37082989	905	138202											
ZNF189	7743	broad.mit.edu	37	chr9	104171448	104171448	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgggaaaacttttagTgttagtgctcatcttgtaca	10	5	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:104171448T>C	uc004bbh.1	+	3	1674	c.1398T>C	c.(1396-1398)AGT>AGC	p.S466S	ZNF189_uc004bbg.1_Silent_p.S424S|ZNF189_uc004bbi.1_Silent_p.S452S|ZNF189_uc011lvk.1_Silent_p.S451S	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	466	C2H2-type 11.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				AAACTTTTAGTGTTAGTGCTC	0.388													C	104171448	T	C	104171448	2	2	273	1	0	0	0	0	0	0	0	1	17751	1693	59	3		3	ZNF189	9	104171448	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	41006	104171448	37041983	906	138203											
ALDOB	229	broad.mit.edu	37	chr9	104187902	104187902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggccttgtagacagcaGccaggacctgaaggacaaga	13	10	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:104187902G>A	uc004bbk.2	-	7	714	c.632C>T	c.(631-633)GCT>GTT	p.A211V		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	211					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			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GTAGACAGCAGCCAGGACCTG	0.522													A	104187902	G	A	104187902	3	1	273	1	0	0	0	0	1	0	0	0	508	971	34	2	474	2	ALDOB	9	104187902	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	16454	104187902	37025529	907	138204											
ACTL7A	10881	broad.mit.edu	37	chr9	111625023	111625023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcgacatggcatcatcGtggactgggatacagtgcag	13	10	2	0	rs139001396		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:111625023G>A	uc004bdj.1	+	1	421	c.421G>A	c.(421-423)GTG>ATG	p.V141M		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	141						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TGGCATCATCGTGGACTGGGA	0.522													A	111625023	G	A	111625023	3	1	273	1	0	0	0	0	1	0	0	0	200	1145	40	1	423	1	ACTL7A	9	111625023	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7437121	111625023	29588408	908	138205											
SVEP1	79987	broad.mit.edu	37	chr9	113192681	113192681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctactgtataaatctcaccTgaggagtggccattttccgg	9	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:113192681T>C	uc010mtz.2	-	33	5740	c.5403A>G	c.(5401-5403)TCA>TCG	p.S1801S	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1801	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AAATCTCACCTGAGGAGTGGC	0.423													C	113192681	T	C	113192681	2	2	273	1	0	0	0	0	0	0	0	1	15417	1567	55	3		3	SVEP1	9	113192681	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1567658	113192681	28020750	909	138206											
MUSK	4593	broad.mit.edu	37	chr9	113562722	113562722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacttgtctatgagggctcaGgtctccagccctgggccccc	12	15	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:113562722G>T	uc004bey.2	+	14	2162	c.2064G>T	c.(2062-2064)CAG>CAT	p.Q688H	MUSK_uc004bez.1_Missense_Mutation_p.Q268H	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	688	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TGAGGGCTCAGGTCTCCAGCC	0.572													T	113562722	G	T	113562722	3	4	273	1	0	0	0	0	1	0	0	0	9989	991	35	5	2154	5	MUSK	9	113562722	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	370041	113562722	27650709	910	138207											
C9orf84	158401	broad.mit.edu	37	chr9	114484808	114484808	+	Frame_Shift_Del	DEL	T	T	-													gggtacacaaggatacaaggTtttttaagataggagaagct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:114484808delT	uc004bfr.2	-	13	1955	c.1820delA	c.(1819-1821)AACfs	p.N607fs	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Frame_Shift_Del_p.N568fs|C9orf84_uc010mug.2_Frame_Shift_Del_p.N553fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	607										ovary(2)	2						GGATACAAGGTTTTTTAAGAT	0.373													-	114484808	T	-	114484808	7	5	273	1	0	1	0	1	0	0	0	0	2500	1725	60	0	2570	0	C9orf84	9	114484808	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	922086	114484808	26728623	911	138208											
C9orf80	58493	broad.mit.edu	37	chr9	115478759	115478759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgtcctgaagagtttgCtgccattttcctattttgtt	7	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:115478759C>T	uc004bgg.2	-	2	184	c.7G>A	c.(7-9)GCA>ACA	p.A3T	C9orf80_uc010muk.2_RNA	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	SOSSC protein	3					DNA repair|response to ionizing radiation	SOSS complex	protein binding				0						GAAGAGTTTGCTGCCATTTTC	0.343													T	115478759	C	T	115478759	3	4	273	1	0	0	0	0	1	0	0	0	2498	797	28	2	323	2	C9orf80	9	115478759	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	993951	115478759	25734672	912	138209											
AMBP	259	broad.mit.edu	37	chr9	116840388	116840388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacccgagagatattgaaGttttcctgcacttggatgtt	9	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:116840388G>A	uc004bie.3	-	1	365	c.102C>T	c.(100-102)AAC>AAT	p.N34N	AMBP_uc011lxk.1_5'Flank|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	34					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGATATTGAAGTTTTCCTGCA	0.642													A	116840388	G	A	116840388	2	1	273	1	0	0	0	0	0	0	0	1	564	1020	36	4		4	AMBP	9	116840388	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1361629	116840388	24373043	913	138210											
ASTN2	23245	broad.mit.edu	37	chr9	119625888	119625888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgaggaatccacctgccGgtcagacacacacttgaagt	9	14	1	2	rs144963407		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:119625888G>A	uc004bjs.1	-	11	2115	c.2014C>T	c.(2014-2016)CGG>TGG	p.R672W	ASTN2_uc004bjr.1_Missense_Mutation_p.R668W|ASTN2_uc004bjt.1_Missense_Mutation_p.R621W	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	672	Extracellular (Potential).|EGF-like 2.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCCACCTGCCGGTCAGACACA	0.592													A	119625888	G	A	119625888	3	1	273	1	0	0	0	0	1	0	0	0	1065	1115	39	1	2289	1	ASTN2	9	119625888	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2785500	119625888	21587543	914	138211											
RAB14	51552	broad.mit.edu	37	chr9	123954450	123954450	+	Splice_Site	DEL	T	T	-													cctcatgtattgaacttacaTtttttttctgtaaattgatg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:123954449_123954449AT>A	uc004blc.3	-	3	562	c.106_splice	c.e3+1	p.F36_splice		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	36					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGAACTTACATTTTTTTTCT	0.294													-	123954450	T	-	123954450	8	5	273	1	0	1	0	1	0	0	1	0	12900	1507	52	0	566	0	RAB14	9	123954450	Splice_Site	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	4328562	123954450	17258981	915	138212											
OR1N1	138883	broad.mit.edu	37	chr9	125288841	125288841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagaacacacaaacaacGcagaggtgggaactgcaggt	11	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:125288841G>A	uc004bmn.1	-	1	732	c.732C>T	c.(730-732)TGC>TGT	p.C244C		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						CACAAACAACGCAGAGGTGGG	0.552													A	125288841	G	A	125288841	2	1	273	1	0	0	0	0	0	0	0	1	10969	1079	38	1		1	OR1N1	9	125288841	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1334391	125288841	15924590	916	138213											
RC3H2	54542	broad.mit.edu	37	chr9	125627905	125627905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaacgttcttacagTggcattgatctttttgttcc	9	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:125627905T>C	uc010mwc.1	-	10	1598	c.1357A>G	c.(1357-1359)ACT>GCT	p.T453A	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.T453A|RC3H2_uc004bne.3_Missense_Mutation_p.T453A	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	453						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GTTCTTACAGTGGCATTGATC	0.348													C	125627905	T	C	125627905	3	2	273	1	0	0	0	0	1	0	0	0	13167	1696	59	3	2344	3	RC3H2	9	125627905	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	339064	125627905	15585526	917	138214											
RABGAP1	23637	broad.mit.edu	37	chr9	125782719	125782719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacctggtagagaaatAccgcattcttatcacaaagg	8	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:125782719A>G	uc011lzh.1	+	13	1909	c.1775A>G	c.(1774-1776)TAC>TGC	p.Y592C	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	592	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						GTAGAGAAATACCGCATTCTT	0.403													G	125782719	A	G	125782719	3	3	273	1	0	0	0	0	1	0	0	0	12964	391	14	3	1821	3	RABGAP1	9	125782719	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	154814	125782719	15430712	918	138215											
WDR38	401551	broad.mit.edu	37	chr9	127617935	127617935	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccgtgaagttctgccgcttCtcccctgatggccacctctt	8	17	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:127617935C>A	uc004box.2	+	3	269	c.213C>A	c.(211-213)TTC>TTA	p.F71L	WDR38_uc011lzn.1_Missense_Mutation_p.F60L|WDR38_uc011lzo.1_Missense_Mutation_p.F71L|WDR38_uc011lzp.1_Intron	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	71	WD 2.										0						TCTGCCGCTTCTCCCCTGATG	0.627													A	127617935	C	A	127617935	3	1	273	1	0	0	0	0	1	0	0	0	17289	912	32	5	223	5	WDR38	9	127617935	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1835216	127617935	13595496	919	138216											
RPL35	11224	broad.mit.edu	37	chr9	127620344	127620344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggggcttgtacttcttGccctgggagacagacggcag	14	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:127620344G>A	uc004boy.1	-	4	274	c.225C>T	c.(223-225)GGC>GGT	p.G75G		NM_007209	NP_009140	P42766	RL35_HUMAN	ribosomal protein L35	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			ovary(1)	1				GBM - Glioblastoma multiforme(294;0.182)		TGTACTTCTTGCCCTGGGAGA	0.622													A	127620344	G	A	127620344	2	1	273	1	0	0	0	0	0	0	0	1	13584	1306	46	2		2	RPL35	9	127620344	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2409	127620344	13593087	920	138217											
ZBTB34	403341	broad.mit.edu	37	chr9	129642108	129642108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgactctgttaccgtcGgtgctgaagagaatcccgag	12	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:129642108G>A	uc004bqm.3	+	2	515	c.418G>A	c.(418-420)GGT>AGT	p.G140S		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTTACCGTCGGTGCTGAAGA	0.502													A	129642108	G	A	129642108	3	1	273	1	0	0	0	0	1	0	0	0	17534	1116	39	1	420	1	ZBTB34	9	129642108	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2021764	129642108	11571323	921	138218											
GARNL3	84253	broad.mit.edu	37	chr9	130152962	130152962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtcagaaggagcgccaaAggccaaatcaaaaccccgga	10	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:130152962A>C	uc011mae.1	+	27	3187	c.2786A>C	c.(2785-2787)AAG>ACG	p.K929T	GARNL3_uc011mad.1_Missense_Mutation_p.K907T|GARNL3_uc010mxi.2_Missense_Mutation_p.K159T	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	929					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GGAGCGCCAAAGGCCAAATCA	0.557													C	130152962	A	C	130152962	3	2	273	1	0	0	0	0	1	0	0	0	6241	72	3	5	2892	5	GARNL3	9	130152962	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	510854	130152962	11060469	922	138219											
ZNF79	7633	broad.mit.edu	37	chr9	130197367	130197367	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgtgcttgttttttcAgggatccacattcttcagca	8	8	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:130197367A>G	uc004bqw.3	+	3	520	c.106_splice	c.e3-2	p.G36_splice	ZNF79_uc011maf.1_Splice_Site_p.G12_splice|ZNF79_uc011mag.1_Splice_Site_p.G12_splice	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TTGTTTTTTCAGGGATCCACA	0.502													G	130197367	A	G	130197367	5	3	273	1	0	0	0	0	0	0	1	0	18158	202	7	3	114	3	ZNF79	9	130197367	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	44405	130197367	11016064	923	138220											
CIZ1	25792	broad.mit.edu	37	chr9	130941408	130941408	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgtggctgcacctGcttctgttgcagcactaagt	11	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:130941408G>A	uc004btt.2	-	8	1241	c.1078C>T	c.(1078-1080)CAG>TAG	p.Q360*	CIZ1_uc004btr.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q331*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q355*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q336*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q259*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q390*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btx.2_Nonsense_Mutation_p.Q336*	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	360	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						ggctgcacctgcttctgttgc	0.249													A	130941408	G	A	130941408	4	1	273	1	0	0	0	0	0	1	0	0	3441	1328	46	2	1658	2	CIZ1	9	130941408	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	744041	130941408	10272023	924	138221											
ODF2	4957	broad.mit.edu	37	chr9	131223325	131223325	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggaaaatcatctgcccgGcctgtgggatgcaagtggga	14	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:131223325G>T	uc011mbd.1	+	4	539	c.228G>T	c.(226-228)CGG>CGT	p.R76R	ODF2_uc011maz.1_Silent_p.R76R|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_Intron|ODF2_uc011mbb.1_Intron|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Silent_p.R29R|ODF2_uc004bvb.2_Intron|ODF2_uc011mbe.1_Silent_p.R71R|ODF2_uc004bvc.2_Intron|ODF2_uc010myc.2_Silent_p.R76R|ODF2_uc011mbf.1_Intron|ODF2_uc004bvd.3_Silent_p.R76R|ODF2_uc004bve.2_Intron	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	76					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CATCTGCCCGGCCTGTGGGAT	0.572													T	131223325	G	T	131223325	2	4	273	1	0	0	0	0	0	0	0	1	10827	1218	42	5		5	ODF2	9	131223325	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	281917	131223325	9990106	925	138222											
TBC1D13	54662	broad.mit.edu	37	chr9	131565555	131565555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccacacaagaactctgtGccatcatccctaaatgagta	5	14	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:131565555G>A	uc010myj.2	+	8	693	c.570G>A	c.(568-570)GTG>GTA	p.V190V	TBC1D13_uc010myk.2_Intron|TBC1D13_uc010myl.2_Silent_p.V9V	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	190	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						AGAACTCTGTGCCATCATCCC	0.483													A	131565555	G	A	131565555	2	1	273	1	0	0	0	0	0	0	0	1	15599	1306	46	2		2	TBC1D13	9	131565555	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	342230	131565555	9647876	926	138223											
ASB6	140459	broad.mit.edu	37	chr9	132400101	132400101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccacggagccactgtgctCgctaaggaggtaccacttca	10	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:132400101C>T	uc004byf.1	-	6	1400	c.1234G>A	c.(1234-1236)GAG>AAG	p.E412K	ASB6_uc004bye.1_Missense_Mutation_p.E337K|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.E333K|ASB6_uc010myx.1_Missense_Mutation_p.E383K	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	412	SOCS box.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CCACTGTGCTCGCTAAGGAGG	0.602													T	132400101	C	T	132400101	3	4	273	1	0	0	0	0	1	0	0	0	1027	893	31	1	35	1	ASB6	9	132400101	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	834546	132400101	8813330	927	138224											
C9orf78	51759	broad.mit.edu	37	chr9	132590511	132590511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttctcgttagcaggacGcttgcggttaggaggggacc	15	10	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:132590511G>A	uc004byp.2	-	9	871	c.799C>T	c.(799-801)CGT>TGT	p.R267C	C9orf78_uc004byo.2_Silent_p.S181S	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	267											0		Ovarian(14;0.00556)				TTAGCAGGACGCTTGCGGTTA	0.383													A	132590511	G	A	132590511	3	1	273	1	0	0	0	0	1	0	0	0	2496	1087	38	1	74	1	C9orf78	9	132590511	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	190410	132590511	8622920	928	138225											
ABL1	25	broad.mit.edu	37	chr9	133748246	133748246	+	Splice_Site	DEL	G	G	-													tcctcgttgtcttgttggcaGgggtctgcacccgggagccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:133748245_133748245AG>A	uc004bzw.3	+	6	911	c.908_splice	c.e6-2	p.G303_splice	ABL1_uc004bzv.3_Splice_Site_p.G322_splice	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	303	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|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|SH3 domain 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			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)	TCTTGTTGGCAGGGGTCTGCA	0.537			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								-	133748246	G	-	133748246	8	5	273	1	0	1	0	1	0	0	1	0	92	1014	35	0	1069	0	ABL1	9	133748246	Splice_Site	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1157735	133748246	7465185	929	138226											
LAMC3	10319	broad.mit.edu	37	chr9	133936465	133936465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgagggcccatcctgtgaAcgctgtttgccaggtttcta	11	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:133936465A>G	uc004caa.1	+	13	2300	c.2202A>G	c.(2200-2202)GAA>GAG	p.E734E		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	734	Laminin EGF-like 6.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CATCCTGTGAACGCTGTTTGC	0.617													G	133936465	A	G	133936465	2	3	273	1	0	0	0	0	0	0	0	1	8616	40	2	3		3	LAMC3	9	133936465	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	188219	133936465	7276966	930	138227											
FAM78A	286336	broad.mit.edu	37	chr9	134151346	134151347	+	Frame_Shift_Ins	INS	-	-	G													gatgggcggcatgaccacctINSgggccgaggcccggaagtgg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:134151346_134151347insG	uc004cak.2	-	1	560_561	c.220_221insC	c.(220-222)CAGfs	p.Q74fs		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	74										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CATGACCACCTGGGCCGAGGCC	0.624													G	134151347	-	G	134151346	7	5	273	1	0	1	1	0	0	0	0	0	5626	1580	55	0	638	0	FAM78A	9	134151346	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	214881	134151346	7062085	931	138228	730	2									
FAM78A	286336	broad.mit.edu	37	chr9	134151347	134151348	+	Frame_Shift_Ins	INS	-	-	G													atgggcggcatgaccacctgINSggccgaggcccggaagtggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:134151346_134151347T>TG	uc004cak.3	-	0	560_561	c.220_221A>CA	c.(220-222)cagfs	p.Q74fs		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA.	74										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CATGACCACCTGGGCCGAGGCC	0.624													G	134151348	-	G	134151347	7	5	273	1	0	1	1	0	0	0	0	0	5626	1357	47	0	639	0	FAM78A	9	134151347	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	134151347	7062084	932	138229	730	2									
RAPGEF1	2889	broad.mit.edu	37	chr9	134497351	134497351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatagagggctgcggctcCgagtagtcctccagcaactg	12	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:134497351C>T	uc004cbc.2	-	11	1816	c.1686G>A	c.(1684-1686)TCG>TCA	p.S562S	RAPGEF1_uc004cbb.2_Silent_p.S580S|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.S567S|RAPGEF1_uc004cbd.2_Silent_p.S567S|RAPGEF1_uc010mzs.1_Silent_p.S8S|RAPGEF1_uc010mzl.1_Silent_p.S8S|RAPGEF1_uc010mzo.1_Silent_p.S8S|RAPGEF1_uc010mzp.1_Silent_p.S8S|RAPGEF1_uc010mzq.1_Silent_p.S8S|RAPGEF1_uc010mzr.1_Silent_p.S8S	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	562					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			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCGGCTCCGAGTAGTCCT	0.587													T	134497351	C	T	134497351	2	4	273	1	0	0	0	0	0	0	0	1	13043	639	23	1		1	RAPGEF1	9	134497351	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	346004	134497351	6716080	933	138230											
TSC1	7248	broad.mit.edu	37	chr9	135781295	135781295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagcactgccgcagggcAggtctatgggagtaaaggct	14	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:135781295A>G	uc004cca.2	-	15	1904	c.1670T>C	c.(1669-1671)CTG>CCG	p.L557P	TSC1_uc004ccb.3_Missense_Mutation_p.L556P|TSC1_uc011mcq.1_Missense_Mutation_p.L506P|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	557					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.L557fs*72(1)|p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCCGCAGGGCAGGTCTATGGG	0.552			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				G	135781295	A	G	135781295	3	3	273	1	0	0	0	0	1	0	0	0	16602	188	7	3	1860	3	TSC1	9	135781295	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1283944	135781295	5432136	934	138231											
CEL	1056	broad.mit.edu	37	chr9	135947128	135947128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgactccaaggaagctcagAtgcctgcagtcattaggttt	10	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:135947128A>G	uc010naa.1	+	11	2264	c.2248A>G	c.(2248-2250)ATG>GTG	p.M750V		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	747					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			pancreas(1)	1				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)		GGAAGCTCAGATGCCTGCAGT	0.642													G	135947128	A	G	135947128	3	3	273	1	0	0	0	0	1	0	0	0	3209	333	12	3	2290	3	CEL	9	135947128	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	165833	135947128	5266303	935	138232											
RALGDS	5900	broad.mit.edu	37	chr9	135984104	135984106	+	In_Frame_Del	DEL	AGG	AGG	-													ccgagtgctccagctgggccAggagaaggtgggcacggcgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:135984103_135984105CAGG>C	uc004cco.3	-	4	753_755	c.733_735CCTG>G	c.(733-735)ctg>G	p.L245del	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_In_Frame_Del_p.L233del|RALGDS_uc004ccr.3_In_Frame_Del_p.L244del|RALGDS_uc011mcv.2_In_Frame_Del_p.L216del|RALGDS_uc004ccs.3_In_Frame_Del_p.L190del|RALGDS_uc011mcw.2_In_Frame_Del_p.L316del|RALGDS_uc004ccv.1_In_Frame_Del_p.L14del|RALGDS_uc004ccu.1_In_Frame_Del_p.L14del	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	245	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|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)		CCAGCTGGGCCAGGAGAAGGTGG	0.64			T	CIITA	"PMBL, Hodgkin Lymphona, "								-	135984106	AGG	-	135984104	7	5	273	1	0	1	0	1	0	0	0	0	13016	188	7	0	2066	0	RALGDS	9	135984104	In_Frame_Del	DEL	AGG	TCGA-HU-A4GT-01A-21D-A25D-08	36976	135984104	5229327	936	138233											
ADAMTS13	11093	broad.mit.edu	37	chr9	136321249	136321249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgacatgcgaggcccaggGcaggcagactgtgcagtggc	16	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:136321249G>A	uc004cdv.3	+	26	4071	c.3627G>A	c.(3625-3627)GGG>GGA	p.G1209G	ADAMTS13_uc004cdp.3_Silent_p.G380G|ADAMTS13_uc004cdt.1_Silent_p.G1153G|ADAMTS13_uc004cdu.1_Silent_p.G1122G|ADAMTS13_uc004cdw.3_Silent_p.G1153G|ADAMTS13_uc004cdx.3_Silent_p.G1122G|ADAMTS13_uc004cdz.3_Silent_p.G879G|ADAMTS13_uc004cea.1_Silent_p.G5G|ADAMTS13_uc004ceb.3_Silent_p.G5G	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1209	CUB 1.				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)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAGGCCCAGGGCAGGCAGACT	0.617													A	136321249	G	A	136321249	2	1	273	1	0	0	0	0	0	0	0	1	258	1190	42	2		2	ADAMTS13	9	136321249	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	337145	136321249	4892182	937	138234											
RXRA	6256	broad.mit.edu	37	chr9	137300061	137300061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccctgggcctcaatggcGtcctcaaggtccccgcccac	9	21	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:137300061G>A	uc004cfb.2	+	3	508	c.346G>A	c.(346-348)GTC>ATC	p.V116I	RXRA_uc004cfc.1_Missense_Mutation_p.V19I	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	116	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			upper_aerodigestive_tract(1)|ovary(1)	2				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)	CCTCAATGGCGTCCTCAAGGT	0.652													A	137300061	G	A	137300061	3	1	273	1	0	0	0	0	1	0	0	0	13763	1145	40	1	356	1	RXRA	9	137300061	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	978812	137300061	3913370	938	138235											
OLFM1	10439	broad.mit.edu	37	chr9	137982144	137982144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccacagcagaccatgtGttcacgggatgcccgcacaa	10	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:137982144G>A	uc010nar.2	+	2	570	c.254G>A	c.(253-255)TGT>TAT	p.C85Y	OLFM1_uc004cfl.3_Missense_Mutation_p.C67Y|OLFM1_uc004cfk.3_Missense_Mutation_p.C67Y|OLFM1_uc004cfm.3_Missense_Mutation_p.C85Y	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	85					nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAGACCATGTGTTCACGGGAT	0.488													A	137982144	G	A	137982144	3	1	273	1	0	0	0	0	1	0	0	0	10852	1377	48	4	206	4	OLFM1	9	137982144	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	682083	137982144	3231287	939	138236											
KCNT1	57582	broad.mit.edu	37	chr9	138677161	138677161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttcctttgcagccccaCgacctcagagcccaggtaag	9	15	1	1	rs146272510	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:138677161C>T	uc011mdq.1	+	28	3236	c.3162C>T	c.(3160-3162)CAC>CAT	p.H1054H	KCNT1_uc011mdr.1_Silent_p.H881H|KCNT1_uc010nbf.2_Silent_p.H1009H|KCNT1_uc004cgo.1_Silent_p.H803H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1054						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCAGCCCCACGACCTCAGAG	0.637													T	138677161	C	T	138677161	2	4	273	1	0	0	0	0	0	0	0	1	8091	535	19	1		1	KCNT1	9	138677161	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	695017	138677161	2536270	940	138237											
C9orf69	90120	broad.mit.edu	37	chr9	139008452	139008452	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgccggcggcccagcagcaGcagcagcaccgacagcttgc	14	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139008452G>T	uc004cgx.3	-	2	820	c.369C>A	c.(367-369)TGC>TGA	p.C123*	C9orf69_uc004cgy.2_RNA	NM_152833	NP_690046			hypothetical protein LOC90120												0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		CCCAGCAGCAGCAGCAGCACC	0.692													T	139008452	G	T	139008452	4	4	273	1	0	0	0	0	0	1	0	0	2492	963	34	5	42	5	C9orf69	9	139008452	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	331291	139008452	2204979	941	138238											
CARD9	64170	broad.mit.edu	37	chr9	139265834	139265834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccttcttgtacagctgCgggtagtagagctccaggct	13	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139265834C>T	uc004chg.3	-	3	430	c.264G>A	c.(262-264)CCG>CCA	p.P88P	CARD9_uc011mdw.1_Silent_p.P88P|CARD9_uc011mdx.1_5'UTR|CARD9_uc010nbj.2_Silent_p.P88P	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	88	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGTACAGCTGCGGGTAGTAGA	0.662													T	139265834	C	T	139265834	2	4	273	1	0	0	0	0	0	0	0	1	2652	755	27	1		1	CARD9	9	139265834	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	257382	139265834	1947597	942	138239											
NOTCH1	4851	broad.mit.edu	37	chr9	139405214	139405214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgcgccgtgccggcaCgggctcagaacgcactcgtt	14	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139405214C>T	uc004chz.2	-	17	2631	c.2631G>A	c.(2629-2631)CCG>CCA	p.P877P	NOTCH1_uc004cia.1_Silent_p.P107P	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	877	Extracellular (Potential).|EGF-like 23; 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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGCCGGCACGGGCTCAGAA	0.692			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			T	139405214	C	T	139405214	2	4	273	1	0	0	0	0	0	0	0	1	10547	523	19	1		1	NOTCH1	9	139405214	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	139380	139405214	1808217	943	138240											
C9orf86	55684	broad.mit.edu	37	chr9	139731890	139731890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgggctcccagtcaccagTggtgcctgcaggcgctgtgt	14	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139731890T>C	uc004cji.1	+	9	1170	c.902T>C	c.(901-903)GTG>GCG	p.V301A	C9orf86_uc004cjj.1_Missense_Mutation_p.V302A|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.V301A|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.V186A|C9orf86_uc004cjn.1_Missense_Mutation_p.V95A	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	301	Pro-rich.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CAGTCACCAGTGGTGCCTGCA	0.706													C	139731890	T	C	139731890	3	2	273	1	0	0	0	0	1	0	0	0	2502	1696	59	3	1183	3	C9orf86	9	139731890	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	326676	139731890	1481541	944	138241											
TRAF2	7186	broad.mit.edu	37	chr9	139815649	139815649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgtggctggccgcataCccgccatcttctccccaggt	10	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139815649C>T	uc010nbu.2	+	10	1293	c.1120C>T	c.(1120-1122)CCC>TCC	p.P374S	TRAF2_uc004cjv.2_Missense_Mutation_p.P374S|TRAF2_uc011mek.1_Missense_Mutation_p.P363S|TRAF2_uc010nbw.2_Missense_Mutation_p.P349S	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	374	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			ovary(1)|lung(1)|breast(1)|skin(1)	4	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)		TGGCCGCATACCCGCCATCTT	0.587													T	139815649	C	T	139815649	3	4	273	1	0	0	0	0	1	0	0	0	16435	507	18	4	1150	4	TRAF2	9	139815649	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	83759	139815649	1397782	945	138242											
GRIN1	2902	broad.mit.edu	37	chr9	140055596	140055596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcacagtcaacggcgAcccagtcaagaaggtgatct	12	10	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140055596A>G	uc004clk.2	+	9	1616	c.1286A>G	c.(1285-1287)GAC>GGC	p.D429G	GRIN1_uc004cli.1_Missense_Mutation_p.D104G|GRIN1_uc004clj.1_Missense_Mutation_p.D426G|GRIN1_uc004cll.2_Missense_Mutation_p.D429G|GRIN1_uc004clm.2_Missense_Mutation_p.D429G|GRIN1_uc004cln.2_Missense_Mutation_p.D447G|GRIN1_uc004clo.2_Missense_Mutation_p.D447G	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	429	Extracellular (Potential).				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			skin(1)	1	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)	GTCAACGGCGACCCAGTCAAG	0.498													G	140055596	A	G	140055596	3	3	273	1	0	0	0	0	1	0	0	0	6778	275	10	3	1387	3	GRIN1	9	140055596	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	239947	140055596	1157835	946	138243											
EHMT1	79813	broad.mit.edu	37	chr9	140672443	140672443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgggaggccaactcccGgcctttcccagggaccaggg	15	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140672443G>A	uc011mfc.1	+	13	2165	c.2128G>A	c.(2128-2130)GGC>AGC	p.G710S	EHMT1_uc004coa.2_Missense_Mutation_p.G710S|EHMT1_uc004cob.1_Missense_Mutation_p.G679S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	710					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)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCCAACTCCCGGCCTTTCCCA	0.602													A	140672443	G	A	140672443	3	1	273	1	0	0	0	0	1	0	0	0	4983	1116	39	1	2178	1	EHMT1	9	140672443	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	616847	140672443	540988	947	138244											
CACNA1B	774	broad.mit.edu	37	chr9	140946568	140946568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagggaaagacatcaaTaccatcaagtctctgagagt	8	9	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140946568T>C	uc004cog.2	+	25	3880	c.3735T>C	c.(3733-3735)AAT>AAC	p.N1245N	CACNA1B_uc011mfd.1_Silent_p.N775N|CACNA1B_uc004coi.2_Silent_p.N459N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1245	Extracellular (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGACATCAATACCATCAAGT	0.587													C	140946568	T	C	140946568	2	2	273	1	0	0	0	0	0	0	0	1	2539	1403	49	3		3	CACNA1B	9	140946568	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	274125	140946568	266863	948	138245											
CACNA1B	774	broad.mit.edu	37	chr9	140948361	140948361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcttgattgtctacatgCtcttcatgttcatatttgcc	5	10	5	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140948361C>A	uc004cog.2	+	26	4016	c.3871C>A	c.(3871-3873)CTC>ATC	p.L1291I	CACNA1B_uc011mfd.1_Missense_Mutation_p.L821I|CACNA1B_uc004coi.2_Missense_Mutation_p.L505I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1291	Helical; Name=S5 of repeat III; (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTCTACATGCTCTTCATGTT	0.502													A	140948361	C	A	140948361	3	1	273	1	0	0	0	0	1	0	0	0	2539	797	28	5	3973	5	CACNA1B	9	140948361	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1793	140948361	265070	949	138246											
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353													-	890939	T	-	890939	7	5	273	1	0	1	0	1	0	0	0	0	8631	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08		890939	134643808	950	138247											
WDR37	22884	broad.mit.edu	37	chr10	1170951	1170951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctggcgcggcttccccGgagcagccgacaggtaacag	15	15	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:1170951G>A	uc001igf.1	+	13	1513	c.1340G>A	c.(1339-1341)CGG>CAG	p.R447Q	WDR37_uc009xhm.1_Missense_Mutation_p.R448Q|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	447											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CGGCTTCCCCGGAGCAGCCGA	0.507													A	1170951	G	A	1170951	3	1	273	1	0	0	0	0	1	0	0	0	17288	1116	39	1	1386	1	WDR37	10	1170951	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	280012	1170951	134363796	951	138248											
FBXO18	84893	broad.mit.edu	37	chr10	5952995	5952995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcctccggagacccaGctccacggtgaccatgccag	10	17	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:5952995G>A	uc001iis.2	+	6	1210	c.1115G>A	c.(1114-1116)AGC>AAC	p.S372N	FBXO18_uc001iir.2_Missense_Mutation_p.S298N|FBXO18_uc009xig.2_Missense_Mutation_p.S298N|FBXO18_uc001iit.2_Missense_Mutation_p.S423N	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	372					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CGGAGACCCAGCTCCACGGTG	0.572													A	5952995	G	A	5952995	3	1	273	1	0	0	0	0	1	0	0	0	5731	971	34	2	1299	2	FBXO18	10	5952995	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4782044	5952995	129581752	952	138249											
FBXO18	84893	broad.mit.edu	37	chr10	5955763	5955763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaattcctgcactcAggccacaaaagttaaagagg	10	9	2	2	rs142910031	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:5955763A>G	uc001iis.2	+	7	1360	c.1265A>G	c.(1264-1266)CAG>CGG	p.Q422R	FBXO18_uc001iir.2_Missense_Mutation_p.Q348R|FBXO18_uc009xig.2_Missense_Mutation_p.Q348R|FBXO18_uc001iit.2_Missense_Mutation_p.Q473R	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	422					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						TCCTGCACTCAGGCCACAAAA	0.403													G	5955763	A	G	5955763	3	3	273	1	0	0	0	0	1	0	0	0	5731	188	7	3	1453	3	FBXO18	10	5955763	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2768	5955763	129578984	953	138250											
CELF2	10659	broad.mit.edu	37	chr10	11363338	11363338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagagcgctgcaggcaGccagaaggaaggtaggtgcc	17	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:11363338G>T	uc001iki.3	+	11	1336	c.1244G>T	c.(1243-1245)AGC>ATC	p.S415I	CELF2_uc010qbj.1_Missense_Mutation_p.S421I|CELF2_uc001ikk.2_Missense_Mutation_p.S440I|CELF2_uc001ikl.3_Missense_Mutation_p.S428I|CELF2_uc010qbl.1_Missense_Mutation_p.S391I|CELF2_uc010qbm.1_Missense_Mutation_p.S187I|CELF2_uc001iko.3_Missense_Mutation_p.S395I|CELF2_uc001ikp.3_Missense_Mutation_p.S397I|CELF2_uc010qbn.1_Missense_Mutation_p.S403I|CELF2_uc010qbo.1_Missense_Mutation_p.S310I|CELF2_uc010qbp.1_Missense_Mutation_p.S187I	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	415	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						GCTGCAGGCAGCCAGAAGGAA	0.627													T	11363338	G	T	11363338	3	4	273	1	0	0	0	0	1	0	0	0	3216	971	34	5	1394	5	CELF2	10	11363338	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5407575	11363338	124171409	954	138251											
UPF2	26019	broad.mit.edu	37	chr10	11990443	11990443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccttcttcttcttcTtcatcctcttcaagattttc	2	16	7	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:11990443T>A	uc001ila.2	-	15	3573	c.3099A>T	c.(3097-3099)GAA>GAT	p.E1033D	UPF2_uc001ilb.2_Missense_Mutation_p.E1033D|UPF2_uc001ilc.2_Missense_Mutation_p.E1033D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1033	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				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			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				cttcttcttcttcatcctctt	0.154													A	11990443	T	A	11990443	3	1	273	1	0	0	0	0	1	0	0	0	17001	1606	56	5	747	5	UPF2	10	11990443	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	627105	11990443	123544304	955	138252											
UPF2	26019	broad.mit.edu	37	chr10	12071235	12071235	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcacagcacagttcacAtcagagatttttagttttgc	9	8	2	1	rs35258162	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:12071235A>G	uc001ila.2	-	2	1128	c.654T>C	c.(652-654)GAT>GAC	p.D218D	UPF2_uc001ilb.2_Silent_p.D218D|UPF2_uc001ilc.2_Silent_p.D218D|UPF2_uc009xiz.1_Silent_p.D218D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	218	MIF4G 1.				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			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				CACAGTTCACATCAGAGATTT	0.423													G	12071235	A	G	12071235	2	3	273	1	0	0	0	0	0	0	0	1	17001	214	8	3		3	UPF2	10	12071235	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	80792	12071235	123463512	956	138253											
CAMK1D	57118	broad.mit.edu	37	chr10	12870783	12870783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtctggcaccttccaCgctctgtagtttcatttctt	8	12	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:12870783C>T	uc001ilo.2	+	11	1290	c.1055C>T	c.(1054-1056)ACG>ATG	p.T352M		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	352	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)		GCACCTTCCACGCTCTGTAGT	0.582													T	12870783	C	T	12870783	3	4	273	1	0	0	0	0	1	0	0	0	2597	536	19	1	1132	1	CAMK1D	10	12870783	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	799548	12870783	122663964	957	138254											
SLC39A12	221074	broad.mit.edu	37	chr10	18242334	18242334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggagttcaggccaaccGgcagacctgctacaggttct	13	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:18242334G>A	uc001ipo.2	+	2	402	c.129G>A	c.(127-129)CCG>CCA	p.P43P	SLC39A12_uc001ipn.2_Silent_p.P43P|SLC39A12_uc001ipp.2_Silent_p.P43P|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	43	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CAGGCCAACCGGCAGACCTGC	0.537													A	18242334	G	A	18242334	2	1	273	1	0	0	0	0	0	0	0	1	14615	1103	39	1		1	SLC39A12	10	18242334	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5371551	18242334	117292413	958	138255											
SLC39A12	221074	broad.mit.edu	37	chr10	18254596	18254596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattttcagttccttgaatcGtacgaataccctccgcctat	5	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:18254596G>A	uc001ipo.2	+	4	1001	c.728G>A	c.(727-729)CGT>CAT	p.R243H	SLC39A12_uc001ipn.2_Missense_Mutation_p.R243H|SLC39A12_uc001ipp.2_Missense_Mutation_p.R243H|SLC39A12_uc010qck.1_Missense_Mutation_p.R109H	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	243	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCCTTGAATCGTACGAATACC	0.423													A	18254596	G	A	18254596	3	1	273	1	0	0	0	0	1	0	0	0	14615	1145	40	1	738	1	SLC39A12	10	18254596	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	12262	18254596	117280151	959	138256											
KIAA1217	56243	broad.mit.edu	37	chr10	24813286	24813286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgaaaggcacggacGcagcccaagccgcacagtac	12	15	0	1	rs149633076		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:24813286G>A	uc001iru.3	+	13	2894	c.2491G>A	c.(2491-2493)GCA>ACA	p.A831T	KIAA1217_uc001irs.2_Missense_Mutation_p.A751T|KIAA1217_uc001irt.3_Missense_Mutation_p.A796T|KIAA1217_uc010qcy.1_Missense_Mutation_p.A796T|KIAA1217_uc010qcz.1_Missense_Mutation_p.A796T|KIAA1217_uc001irv.1_Missense_Mutation_p.A646T|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Missense_Mutation_p.A514T|KIAA1217_uc001irz.2_Missense_Mutation_p.A514T|KIAA1217_uc001irx.2_Missense_Mutation_p.A514T|KIAA1217_uc001iry.2_Missense_Mutation_p.A514T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	831					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGGCACGGACGCAGCCCAAGC	0.567													A	24813286	G	A	24813286	3	1	273	1	0	0	0	0	1	0	0	0	8216	1087	38	1	2541	1	KIAA1217	10	24813286	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6558690	24813286	110721461	960	138257											
GPR158	57512	broad.mit.edu	37	chr10	25861746	25861746	+	Frame_Shift_Del	DEL	G	G	-													cagatttcacttattggccaGgggaaaacatccgatcacct					rs138208272		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:25861746delG	uc001isj.2	+	7	1743	c.1683delG	c.(1681-1683)CAGfs	p.Q561fs		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	561	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTATTGGCCAGGGGAAAACAT	0.453													-	25861746	G	-	25861746	7	5	273	1	0	1	0	1	0	0	0	0	6663	991	35	0	1709	0	GPR158	10	25861746	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1048460	25861746	109673001	961	138258											
GAD2	2572	broad.mit.edu	37	chr10	26506865	26506865	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgcctgcgcctgcgaccaGaagccctgcagctgctccaa	11	18	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:26506865G>A	uc001isp.2	+	3	734	c.231G>A	c.(229-231)CAG>CAA	p.Q77Q	GAD2_uc009xkr.2_Silent_p.Q77Q|GAD2_uc001isq.2_Silent_p.Q77Q	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	77					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)|skin(1)	2					L-Glutamic Acid(DB00142)	CCTGCGACCAGAAGCCCTGCA	0.597													A	26506865	G	A	26506865	2	1	273	1	0	0	0	0	0	0	0	1	6180	933	33	4		4	GAD2	10	26506865	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	645119	26506865	109027882	962	138259											
APBB1IP	54518	broad.mit.edu	37	chr10	26856274	26856274	+	Frame_Shift_Del	DEL	C	C	-													tccccgactccgccaggccgCcccccgcggtggccaagagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:26856274delC	uc001iss.2	+	15	2179	c.1858delC	c.(1858-1860)CCCfs	p.P620fs		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	620	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						cgccAGGCCGCCCCCCGCGGT	0.498													-	26856274	C	-	26856274	7	5	273	1	0	1	0	1	0	0	0	0	760	739	26	0	1908	0	APBB1IP	10	26856274	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	349409	26856274	108678473	963	138260											
YME1L1	10730	broad.mit.edu	37	chr10	27408258	27408258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggaaaactccagctccTtcatggtaaccatttctttt	5	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:27408258T>C	uc001iti.2	-	15	1885	c.1703A>G	c.(1702-1704)AAG>AGG	p.K568R	YME1L1_uc001itj.2_Missense_Mutation_p.K511R|YME1L1_uc010qdl.1_Missense_Mutation_p.K478R|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	568					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						CTCCAGCTCCTTCATGGTAAC	0.398													C	27408258	T	C	27408258	3	2	273	1	0	0	0	0	1	0	0	0	17484	1609	56	3	642	3	YME1L1	10	27408258	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	551984	27408258	108126489	964	138261											
PTCHD3	374308	broad.mit.edu	37	chr10	27703031	27703031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggttcgggggatttcgggGgtgccaggggtcccgggggt	23	7	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:27703031G>A	uc001itu.2	-	1	267	c.149C>T	c.(148-150)CCC>CTC	p.P50L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	50					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GGATTTCGGGGGTGCCAGGGG	0.677													A	27703031	G	A	27703031	3	1	273	1	0	0	0	0	1	0	0	0	12734	1232	43	4	2170	4	PTCHD3	10	27703031	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	294773	27703031	107831716	965	138262											
KIF5B	3799	broad.mit.edu	37	chr10	32327717	32327717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacttaccatctaacaggTcccttatcttatccaaatat	2	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:32327717T>C	uc001iwe.3	-	5	901	c.431A>G	c.(430-432)GAC>GGC	p.D144G		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	144	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(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				ATCTAACAGGTCCCTTATCTT	0.254													C	32327717	T	C	32327717	3	2	273	1	0	0	0	0	1	0	0	0	8306	1667	58	3	2544	3	KIF5B	10	32327717	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	4624686	32327717	103207030	966	138263											
RET	5979	broad.mit.edu	37	chr10	43606912	43606912	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaacagtggaggggtcAtgtgagtgcctgctccaggg	16	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:43606912A>G	uc001jal.2	+	7	1711	c.1521A>G	c.(1519-1521)TCA>TCG	p.S507S	RET_uc001jak.1_Silent_p.S507S|RET_uc010qez.1_Silent_p.S253S	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	507	Extracellular (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGGAGGGGTCATGTGAGTGCC	0.632		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				G	43606912	A	G	43606912	2	3	273	1	0	0	0	0	0	0	0	1	13235	231	8	3		3	RET	10	43606912	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	11279195	43606912	91927835	967	138264											
C10orf10	11067	broad.mit.edu	37	chr10	45473190	45473190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacagtatcagccatggGcagtgtgggctgctggccac	14	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:45473190G>A	uc001jbr.3	-	2	579	c.289C>T	c.(289-291)CCC>TCC	p.P97S	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	97						mitochondrion					0						TCAGCCATGGGCAGTGTGGGC	0.662													A	45473190	G	A	45473190	3	1	273	1	0	0	0	0	1	0	0	0	1580	1203	42	2	353	2	C10orf10	10	45473190	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1866278	45473190	90061557	968	138265											
C10orf10	11067	broad.mit.edu	37	chr10	45473388	45473388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctaggagagggtggggGctcctgtccaggacccccaa	16	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:45473388G>A	uc001jbr.3	-	2	381	c.91C>T	c.(91-93)CCC>TCC	p.P31S	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	31						mitochondrion					0						GAGGGTGGGGGCTCCTGTCCA	0.637													A	45473388	G	A	45473388	3	1	273	1	0	0	0	0	1	0	0	0	1580	1203	42	2	551	2	C10orf10	10	45473388	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	198	45473388	90061359	969	138266											
ANXA8L2	244	broad.mit.edu	37	chr10	47756075	47756075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtggacccggcactgGccctccaagacgcacaggtg	13	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:47756075G>A	uc001jem.2	+	7	727	c.535G>A	c.(535-537)GCC>ACC	p.A179T	ANXA8L2_uc010qgb.1_Missense_Mutation_p.A122T|ANXA8L2_uc001jen.2_Missense_Mutation_p.A160T|ANXA8L2_uc001jeo.1_Intron	NM_001630	NP_001621	Q5VT79	AXA82_HUMAN	annexin A8L2	179							calcium ion binding|calcium-dependent phospholipid binding			pancreas(1)	1						CCCGGCACTGGCCCTCCAAGA	0.547													A	47756075	G	A	47756075	3	1	273	1	0	0	0	0	1	0	0	0	724	1203	42	2	561	2	ANXA8L2	10	47756075	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2282687	47756075	87778672	970	138267											
ERCC6	2074	broad.mit.edu	37	chr10	50669423	50669424	+	Frame_Shift_Ins	INS	-	-	C													cctgctggtgcaccagaaatINSccccctgtggccagtccagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:50669423_50669424insC	uc001jhs.3	-	19	4111_4112	c.3957_3958insG	c.(3955-3960)GGGATTfs	p.G1319fs	ERCC6_uc009xod.2_Frame_Shift_Ins_p.G479fs|ERCC6_uc010qgr.1_Frame_Shift_Ins_p.G689fs|ERCC6_uc001jhr.3_Frame_Shift_Ins_p.G687fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1319_1320					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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GCACCAGAAATCCCCCTGTGGC	0.54								Direct_reversal_of_damage|NER					C	50669424	-	C	50669423	7	5	273	1	0	1	1	0	0	0	0	0	5217	1435	50	0	535	0	ERCC6	10	50669423	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2913348	50669423	84865324	971	138268	731	2									
ERCC6	2074	broad.mit.edu	37	chr10	50669424	50669425	+	Frame_Shift_Ins	INS	-	-	C													ctgctggtgcaccagaaatcINScccctgtggccagtccaggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:50669423_50669424T>TC	uc001jhs.4	-	18	4111_4112	c.3957_3958A>GA	c.(3955-3960)gggattfs	p.G1319fs	ERCC6_uc009xod.3_Frame_Shift_Ins_p.G479fs|ERCC6_uc010qgr.2_Frame_Shift_Ins_p.G689fs|ERCC6_uc001jhr.4_Frame_Shift_Ins_p.G687fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1319					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|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	p.R1318S(1)		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						GCACCAGAAATCCCCCTGTGGC	0.54								Direct reversal of damage;Nucleotide excision repair (NER)					C	50669425	-	C	50669424	7	5	273	1	0	1	1	0	0	0	0	0	5217	842	30	0	536	0	ERCC6	10	50669424	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	50669424	84865323	972	138269	731	2									
OGDHL	55753	broad.mit.edu	37	chr10	50945991	50945991	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgggacggagactcAccggcttgcggaagggcagc	16	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:50945991A>G	uc001jie.2	-	19	2659	c.2517_splice	c.e19+1	p.P839_splice	OGDHL_uc009xog.2_Splice_Site_p.P866_splice|OGDHL_uc010qgt.1_Splice_Site_p.P782_splice|OGDHL_uc010qgu.1_Splice_Site_p.P630_splice	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a						glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						ACGGAGACTCACCGGCTTGCG	0.632													G	50945991	A	G	50945991	5	3	273	1	0	0	0	0	0	0	1	0	10840	173	6	3	533	3	OGDHL	10	50945991	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	276567	50945991	84588756	973	138270											
PCDH15	65217	broad.mit.edu	37	chr10	55943276	55943276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatttcagggaaggttggCgtgttatcatttgcatccat	11	6	2	0	rs141416774		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:55943276C>T	uc001jju.1	-	13	1913	c.1518G>A	c.(1516-1518)ACG>ACA	p.T506T	PCDH15_uc010qhq.1_Silent_p.T511T|PCDH15_uc010qhr.1_Silent_p.T506T|PCDH15_uc010qhs.1_Silent_p.T518T|PCDH15_uc010qht.1_Silent_p.T513T|PCDH15_uc010qhu.1_Silent_p.T506T|PCDH15_uc001jjv.1_Silent_p.T484T|PCDH15_uc010qhv.1_Silent_p.T506T|PCDH15_uc010qhw.1_Silent_p.T469T|PCDH15_uc010qhx.1_Silent_p.T506T|PCDH15_uc010qhy.1_Silent_p.T511T|PCDH15_uc010qhz.1_Silent_p.T506T|PCDH15_uc010qia.1_Silent_p.T484T|PCDH15_uc010qib.1_Silent_p.T484T|PCDH15_uc001jjw.2_Silent_p.T506T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	506	Cadherin 4.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAAGGTTGGCGTGTTATCAT	0.388										HNSCC(58;0.16)			T	55943276	C	T	55943276	2	4	273	1	0	0	0	0	0	0	0	1	11511	755	27	1		1	PCDH15	10	55943276	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4997285	55943276	79591471	974	138271											
BICC1	80114	broad.mit.edu	37	chr10	60573627	60573627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggtccaacagtcgtgAgcacttgggaggtggaagcg	15	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:60573627A>T	uc001jki.1	+	18	2414	c.2414A>T	c.(2413-2415)GAG>GTG	p.E805V	BICC1_uc001jkj.1_Missense_Mutation_p.E446V	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	805					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AACAGTCGTGAGCACTTGGGA	0.473													T	60573627	A	T	60573627	3	4	273	1	0	0	0	0	1	0	0	0	1427	304	11	5	2484	5	BICC1	10	60573627	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4630351	60573627	74961120	975	138272											
JMJD1C	221037	broad.mit.edu	37	chr10	64975328	64975328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacgtgaacagcgttgacGttttgattggcacgagacct	11	9	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:64975328G>A	uc001jmn.2	-	6	1107	c.807C>T	c.(805-807)AAC>AAT	p.N269N	JMJD1C_uc001jml.2_Silent_p.N50N|JMJD1C_uc001jmm.2_Translation_Start_Site|JMJD1C_uc010qiq.1_Silent_p.N87N|JMJD1C_uc009xpi.2_Silent_p.N87N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Translation_Start_Site	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	269					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGCGTTGACGTTTTGATTGG	0.353													A	64975328	G	A	64975328	2	1	273	1	0	0	0	0	0	0	0	1	7950	1136	40	1		1	JMJD1C	10	64975328	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4401701	64975328	70559419	976	138273											
SIRT1	23411	broad.mit.edu	37	chr10	69669181	69669181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttccctcaaagtaagaCcagtagcactaattccaagt	7	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:69669181C>T	uc001jnd.2	+	7	1392	c.1339C>T	c.(1339-1341)CCA>TCA	p.P447S	SIRT1_uc010qis.1_Missense_Mutation_p.P152S|SIRT1_uc009xpp.2_Missense_Mutation_p.P255S|SIRT1_uc001jne.2_Missense_Mutation_p.P144S	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	447	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						CAAAGTAAGACCAGTAGCACT	0.368													T	69669181	C	T	69669181	3	4	273	1	0	0	0	0	1	0	0	0	14337	507	18	4	1365	4	SIRT1	10	69669181	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4693853	69669181	65865566	977	138274											
HERC4	26091	broad.mit.edu	37	chr10	69750775	69750776	+	Splice_Site	INS	-	-	A													tatagtgatcatcattgctaINSaaaaacagaaaagaaaaaaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:69750774_69750775T>TA	uc001jng.4	-	13	1643	c.1332_splice	c.e13-1	p.S444_splice	HERC4_uc009xpq.3_Splice_Site|HERC4_uc001jnf.4_Splice_Site|HERC4_uc001jnh.4_Splice_Site_p.S444_splice|HERC4_uc009xpr.3_Splice_Site_p.S444_splice|HERC4_uc001jni.4_Splice_Site_p.S188_splice|HERC4_uc021prr.1_5'Flank	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	444					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						TCATCATTGCTaaaaaacagaa	0.262													A	69750776	-	A	69750775	8	5	273	1	0	1	1	0	0	0	1	0	7060	377	13	0		0	HERC4	10	69750775	Splice_Site	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	81594	69750775	65783972	978	138275											
CCAR1	55749	broad.mit.edu	37	chr10	70513638	70513638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatgatggaactaaggcGccgttatcaaaatttgtata	9	6	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:70513638G>A	uc001joo.2	+	11	1267	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.R188H|CCAR1_uc009xpx.1_Missense_Mutation_p.R357H|CCAR1_uc001jon.1_Missense_Mutation_p.R329H|CCAR1_uc010qiz.1_Missense_Mutation_p.R368H|CCAR1_uc010qja.1_Missense_Mutation_p.R368H|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	383					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			ovary(6)|large_intestine(1)	7						GAACTAAGGCGCCGTTATCAA	0.353													A	70513638	G	A	70513638	3	1	273	1	0	0	0	0	1	0	0	0	2730	1087	38	1	1186	1	CCAR1	10	70513638	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	762863	70513638	65021109	979	138276											
KIAA1274	27143	broad.mit.edu	37	chr10	72298851	72298851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcctgtgcccaggccCtggggagcatcctggcctac	13	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:72298851C>A	uc001jrd.3	+	14	1854	c.1573C>A	c.(1573-1575)CTG>ATG	p.L525M	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	525										ovary(2)|central_nervous_system(1)	3						TGCCCAGGCCCTGGGGAGCAT	0.692													A	72298851	C	A	72298851	3	1	273	1	0	0	0	0	1	0	0	0	8220	680	24	5	1623	5	KIAA1274	10	72298851	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1785213	72298851	63235896	980	138277											
ADAMTS14	140766	broad.mit.edu	37	chr10	72468418	72468418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacacagagcggaagcggCggcatgccaagccaggcagc	16	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:72468418C>T	uc001jrh.2	+	4	754	c.754C>T	c.(754-756)CGG>TGG	p.R252W	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R252W	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	252					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCGGAAGCGGCGGCATGCCAA	0.617													T	72468418	C	T	72468418	3	4	273	1	0	0	0	0	1	0	0	0	259	759	27	1	768	1	ADAMTS14	10	72468418	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	169567	72468418	63066329	981	138278											
USP54	159195	broad.mit.edu	37	chr10	75289520	75289520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgctttcatagccagAttccattcgctggattagtc	7	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75289520A>G	uc001juo.2	-	13	1995	c.1978T>C	c.(1978-1980)TCT>CCT	p.S660P	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.S660P|USP54_uc010qkl.1_Missense_Mutation_p.S660P	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	660					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					TCATAGCCAGATTCCATTCGC	0.552											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	75289520	A	G	75289520	3	3	273	1	0	0	0	0	1	0	0	0	17082	333	12	3	3116	3	USP54	10	75289520	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2821102	75289520	60245227	982	138279											
MYOZ1	58529	broad.mit.edu	37	chr10	75391878	75391878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatctggaaggtcatgCgtttggaggccttctcatat	13	8	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75391878C>T	uc001jur.2	-	6	1075	c.710G>A	c.(709-711)CGC>CAC	p.R237H		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	237					myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					GAAGGTCATGCGTTTGGAGGC	0.473													T	75391878	C	T	75391878	3	4	273	1	0	0	0	0	1	0	0	0	10095	768	27	1	193	1	MYOZ1	10	75391878	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	102358	75391878	60142869	983	138280											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407182	75407182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggattccagccgaagagGctgccccattcacgagccca	11	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75407182G>A	uc001jut.3	-	4	2380	c.2228C>T	c.(2227-2229)GCC>GTC	p.A743V	SYNPO2L_uc001jus.3_Missense_Mutation_p.A519V	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	743	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					AGCCGAAGAGGCTGCCCCATT	0.637													A	75407182	G	A	75407182	3	1	273	1	0	0	0	0	1	0	0	0	15455	1203	42	2	709	2	SYNPO2L	10	75407182	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	15304	75407182	60127565	984	138281											
CAMK2G	818	broad.mit.edu	37	chr10	75585057	75585057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccgtctgcaagggcgCgggctcttgggctgggctta	17	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75585057C>T	uc001jvv.1	-	14	1139	c.1015G>A	c.(1015-1017)GCG>ACG	p.A339T	CAMK2G_uc001jvm.1_Missense_Mutation_p.A347T|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Missense_Mutation_p.A347T|CAMK2G_uc001jvs.1_Missense_Mutation_p.A368T|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.A325T|CAMK2G_uc010qkv.1_Missense_Mutation_p.A66T|CAMK2G_uc009xrp.1_Intron|CAMK2G_uc001jvw.1_Intron|CAMK2G_uc001jvx.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	358					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					TGCAAGGGCGCGGGCTCTTGG	0.587													T	75585057	C	T	75585057	3	4	273	1	0	0	0	0	1	0	0	0	2602	768	27	1	659	1	CAMK2G	10	75585057	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	177875	75585057	59949690	985	138282											
MYST4	23522	broad.mit.edu	37	chr10	76790792	76790792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctctcaatggctcctaCatgagaaggtagacaacgtg	10	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:76790792C>T	uc001jwn.1	+	18	6703	c.6210C>T	c.(6208-6210)TAC>TAT	p.Y2070Y	MYST4_uc001jwo.1_Silent_p.Y1778Y|MYST4_uc001jwp.1_Silent_p.Y1887Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	2070	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					ATGGCTCCTACATGAGAAGGT	0.498			T	CREBBP	AML								T	76790792	C	T	76790792	2	4	273	1	0	0	0	0	0	0	0	1	10105	489	17	4		4	MYST4	10	76790792	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1205735	76790792	58743955	986	138283											
DLG5	9231	broad.mit.edu	37	chr10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcagctcatggtggatcGcctcaaacctggcaagagag	12	10	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:79601943G>A	uc001jzk.2	-	7	1203	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	DLG5_uc001jzj.2_Missense_Mutation_p.A133V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_5'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	378					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			ovary(5)|breast(3)	8	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)			ATGGTGGATCGCCTCAAACCT	0.652													A	79601943	G	A	79601943	3	1	273	1	0	0	0	0	1	0	0	0	4558	1087	38	1	4730	1	DLG5	10	79601943	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2811151	79601943	55932804	987	138284											
CDHR1	92211	broad.mit.edu	37	chr10	85973973	85973973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaccgccaccttctggCgcaacaagaagtctaacaag	7	15	3	1	rs141706561		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:85973973C>T	uc001kcv.2	+	17	2176	c.2176C>T	c.(2176-2178)CGC>TGC	p.R726C	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R430C|CDHR1_uc001kcx.2_Missense_Mutation_p.R40C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CACCTTCTGGCGCAACAAGAA	0.637													T	85973973	C	T	85973973	3	4	273	1	0	0	0	0	1	0	0	0	3118	768	27	1	2242	1	CDHR1	10	85973973	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6372030	85973973	49560774	988	138285											
PTEN	5728	broad.mit.edu	37	chr10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-													cacaaacagaacaagatgctAaaaaaggtttgtactttact							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	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.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		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)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717770	A	-	89717770	7	5	273	1	0	1	0	1	0	0	0	0	12738	349	13	0	821	0	PTEN	10	89717770	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	3743797	89717770	45816977	989	138286											
IFIT5	24138	broad.mit.edu	37	chr10	91178053	91178053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttccggaaagctcttcGtctggagaacataaccgatg	9	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:91178053G>A	uc010qnh.1	+	2	1328	c.1097G>A	c.(1096-1098)CGT>CAT	p.R366H	IFIT5_uc010qng.1_Missense_Mutation_p.R318H	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	366	TPR 6.						binding				0						AAAGCTCTTCGTCTGGAGAAC	0.453													A	91178053	G	A	91178053	3	1	273	1	0	0	0	0	1	0	0	0	7525	1145	40	1	1103	1	IFIT5	10	91178053	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1460283	91178053	44356694	990	138287											
FGFBP3	143282	broad.mit.edu	37	chr10	93668204	93668205	+	Frame_Shift_Ins	INS	-	-	C													gacgcacgctcccgggtccgINScccccggttccgggcccggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:93668204_93668205insC	uc001khq.3	-	2	704_705	c.522_523insG	c.(520-525)GGGCGGfs	p.G174fs		NM_152429	NP_689642	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	174_175					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding				0		Colorectal(252;0.162)				TCCCGGGTCCGCCCCCGGTTCC	0.752													C	93668205	-	C	93668204	7	5	273	1	0	1	1	0	0	0	0	0	5862	1086	38	0	257	0	FGFBP3	10	93668204	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2490151	93668204	41866543	991	138288											
IDE	3416	broad.mit.edu	37	chr10	94234611	94234613	+	In_Frame_Del	DEL	TTT	TTT	-													gtctcaccatccagagcttcTtttaactcatctttagtcca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:94234610_94234612CTTT>C	uc001kia.3	-	16	2178_2180	c.2102_2104AAAG>G	c.(2101-2106)aaagaa>aGaa	p.701_702KE>R	IDE_uc010qnp.2_In_Frame_Del_p.146_147KE>R|IDE_uc001khz.3_In_Frame_Del_p.146_147KE>R	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	701					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)	TCCAGAGCTTCTTTTAACTCATC	0.389													-	94234613	TTT	-	94234611	7	5	273	1	0	1	0	1	0	0	0	0	7493	1606	56	0	992	0	IDE	10	94234611	In_Frame_Del	DEL	TTT	TCGA-HU-A4GT-01A-21D-A25D-08	566407	94234611	41300136	992	138289											
MYOF	26509	broad.mit.edu	37	chr10	95109628	95109628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggtttttgatcaccacCgattccaccctttctcctcc	4	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:95109628C>T	uc001kin.2	-	36	4143	c.4020G>A	c.(4018-4020)TCG>TCA	p.S1340S	MYOF_uc001kio.2_Silent_p.S1327S|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1340	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TGATCACCACCGATTCCACCC	0.443													T	95109628	C	T	95109628	2	4	273	1	0	0	0	0	0	0	0	1	10089	639	23	1		1	MYOF	10	95109628	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	875017	95109628	40425119	993	138290											
ZNF518A	9849	broad.mit.edu	37	chr10	97919840	97919840	+	Frame_Shift_Del	DEL	T	T	-													aaaaaagacttccaaaaaaaTtttttcaaaaacaaaaactc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:97919840delT	uc001klp.2	+	6	4618	c.3761delT	c.(3760-3762)ATTfs	p.I1254fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.I724fs|ZNF518A_uc001klq.2_Frame_Shift_Del_p.I1254fs|ZNF518A_uc001klr.2_Frame_Shift_Del_p.I1254fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCCAAAAAAATTTTTTCAAAA	0.333													-	97919840	T	-	97919840	7	5	273	1	0	1	0	1	0	0	0	0	17959	1493	52	0	3763	0	ZNF518A	10	97919840	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	2810212	97919840	37614907	994	138291											
NKX2-3	159296	broad.mit.edu	37	chr10	101294988	101294988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccagaatcgcaggtacaAgtgcaagagacagcggcagg	14	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:101294988A>G	uc009xwj.2	+	2	804	c.605A>G	c.(604-606)AAG>AGG	p.K202R		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	202	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		CGCAGGTACAAGTGCAAGAGA	0.542													G	101294988	A	G	101294988	3	3	273	1	0	0	0	0	1	0	0	0	10451	72	3	3	611	3	NKX2-3	10	101294988	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3375148	101294988	34239759	995	138292											
TLX1	3195	broad.mit.edu	37	chr10	102891414	102891414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgggacccgcctcgcGcctccaggacggagaatacg	13	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:102891414G>A	uc001ksw.2	+	1	354	c.116G>A	c.(115-117)CGC>CAC	p.R39H	TLX1NB_uc001ksv.2_5'Flank	NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCCGCCTCGCGCCTCCAGGAC	0.711			T	TRB@|TRD@	T-ALL								A	102891414	G	A	102891414	3	1	273	1	0	0	0	0	1	0	0	0	15956	1087	38	1	118	1	TLX1	10	102891414	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1596426	102891414	32643333	996	138293											
BTRC	8945	broad.mit.edu	37	chr10	103294576	103294576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaactgacattaccctccGgagggtgctggtcggacacc	11	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:103294576G>A	uc001kta.2	+	10	1369	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q	BTRC_uc001ktb.2_Missense_Mutation_p.R383Q|BTRC_uc001ktc.2_Missense_Mutation_p.R393Q	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ATTACCCTCCGGAGGGTGCTG	0.473													A	103294576	G	A	103294576	3	1	273	1	0	0	0	0	1	0	0	0	1569	1116	39	1	1294	1	BTRC	10	103294576	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	403162	103294576	32240171	997	138294											
TMEM180	79847	broad.mit.edu	37	chr10	104230502	104230502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggccgctgctggcgcTgtcgttcctggcgttctggg	17	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104230502T>C	uc001kvt.2	+	5	551	c.332T>C	c.(331-333)CTG>CCG	p.L111P	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.L111P	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	111	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGCTGGCGCTGTCGTTCCTG	0.682													C	104230502	T	C	104230502	3	2	273	1	0	0	0	0	1	0	0	0	16096	1580	55	3	342	3	TMEM180	10	104230502	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	935926	104230502	31304245	998	138295											
SUFU	51684	broad.mit.edu	37	chr10	104269058	104269058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggtgacaacagagtccaTgagtgagtatatgccacctg	11	8	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104269058T>C	uc001kvy.1	+	2	461	c.315T>C	c.(313-315)CAT>CAC	p.H105H	SUFU_uc001kvw.1_Silent_p.H105H|SUFU_uc001kvx.2_Silent_p.H105H	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	105					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			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		acagagtccaTGAGTGAGTAT	0.269			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation				C	104269058	T	C	104269058	2	2	273	1	0	0	0	0	0	0	0	1	15367	1461	51	3		3	SUFU	10	104269058	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	38556	104269058	31265689	999	138296											
CYP17A1	1586	broad.mit.edu	37	chr10	104595067	104595067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaaggtggccatcgccAgccttcgatgcagctgccag	14	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104595067A>G	uc001kwg.2	-	2	552	c.380T>C	c.(379-381)CTG>CCG	p.L127P		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	127					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				0		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)	GGCCATCGCCAGCCTTCGATG	0.597											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	104595067	A	G	104595067	3	3	273	1	0	0	0	0	1	0	0	0	4147	188	7	3	1174	3	CYP17A1	10	104595067	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	326009	104595067	30939680	1000	138297											
CYP17A1	1586	broad.mit.edu	37	chr10	104596942	104596943	+	Frame_Shift_Ins	INS	-	-	T													ccgaatagatggggccatatINStttttctgcagcttgaagaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104596941_104596942A>AT	uc001kwg.3	-	0	349_350	c.177_178T>AT	c.(175-180)aaatatfs	p.K59fs		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	59					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	p.K59fs*16(2)		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)	ATGGGGCCATATTTTTTCTGCA	0.54													T	104596943	-	T	104596942	7	5	273	1	0	1	1	0	0	0	0	0	4147	1490	52	0	1381	0	CYP17A1	10	104596942	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1875	104596942	30937805	1001	138298											
ADD3	120	broad.mit.edu	37	chr10	111877150	111877150	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataataattcccagaggcctAtctttttctgaagctacagc	6	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:111877150A>G	uc001kyt.3	+	6	851	c.537A>G	c.(535-537)CTA>CTG	p.L179L	ADD3_uc001kys.3_Silent_p.L179L|ADD3_uc001kyu.2_Silent_p.L179L|ADD3_uc001kyv.2_Silent_p.L179L|ADD3_uc001kyw.2_Silent_p.L179L	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	179						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		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)		CCAGAGGCCTATCTTTTTCTG	0.353													G	111877150	A	G	111877150	2	3	273	1	0	0	0	0	0	0	0	1	306	436	16	3		3	ADD3	10	111877150	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	7280208	111877150	23657597	1002	138299											
TCF7L2	6934	broad.mit.edu	37	chr10	114724358	114724358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattactctgcgtacaaaaCgattgaacaccagattgcag	7	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:114724358C>T	uc001lae.3	+	4	932	c.425C>T	c.(424-426)ACG>ATG	p.T142M	TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Missense_Mutation_p.T142M|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Intron|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Intron	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	142					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GCGTACAAAACGATTGAACAC	0.413													T	114724358	C	T	114724358	3	4	273	1	0	0	0	0	1	0	0	0	15695	536	19	1	439	1	TCF7L2	10	114724358	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2847208	114724358	20810389	1003	138300											
TCF7L2	6934	broad.mit.edu	37	chr10	114900993	114900993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatgtccaccccctcacGcctcttatcacgtacagcaa	4	19	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:114900993G>A	uc001lae.3	+	6	1110	c.603G>A	c.(601-603)ACG>ACA	p.T201T	TCF7L2_uc001lac.3_Silent_p.T178T|TCF7L2_uc010qrk.1_Silent_p.T178T|TCF7L2_uc010qrl.1_Silent_p.T178T|TCF7L2_uc010qrm.1_Silent_p.T201T|TCF7L2_uc010qrn.1_Silent_p.T144T|TCF7L2_uc001lad.3_Silent_p.T178T|TCF7L2_uc001lag.3_Silent_p.T225T|TCF7L2_uc001laf.3_Silent_p.T178T|TCF7L2_uc010qro.1_Silent_p.T178T|TCF7L2_uc001lah.2_Silent_p.T178T|TCF7L2_uc010qrp.1_Silent_p.T178T|TCF7L2_uc010qrq.1_Silent_p.T178T|TCF7L2_uc010qrr.1_Silent_p.T120T|TCF7L2_uc010qrs.1_Silent_p.T72T|TCF7L2_uc010qrt.1_Silent_p.T72T|TCF7L2_uc010qru.1_Silent_p.T95T|TCF7L2_uc010qrv.1_Silent_p.T18T|TCF7L2_uc010qrw.1_5'UTR|TCF7L2_uc010qrx.1_Silent_p.T58T	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	201	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACCCCCTCACGCCTCTTATCA	0.577													A	114900993	G	A	114900993	2	1	273	1	0	0	0	0	0	0	0	1	15695	1074	38	1		1	TCF7L2	10	114900993	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	176635	114900993	20633754	1004	138301											
NRAP	4892	broad.mit.edu	37	chr10	115411638	115411638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggagaacctggagatgCgttcatcatgccctctctta	10	12	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:115411638C>T	uc001laj.2	-	7	763	c.599G>A	c.(598-600)CGC>CAC	p.R200H	NRAP_uc001lak.2_Missense_Mutation_p.R200H|NRAP_uc001lal.3_Missense_Mutation_p.R200H	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	200	Nebulin 3.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTGGAGATGCGTTCATCATG	0.532													T	115411638	C	T	115411638	3	4	273	1	0	0	0	0	1	0	0	0	10638	768	27	1	4737	1	NRAP	10	115411638	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	510645	115411638	20123109	1005	138302											
NRAP	4892	broad.mit.edu	37	chr10	115413830	115413830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacaatttcggggtctgGcagagctcctgggcaccaag	12	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:115413830G>A	uc001laj.2	-	5	579	c.415C>T	c.(415-417)CCA>TCA	p.P139S	NRAP_uc001lak.2_Missense_Mutation_p.P139S|NRAP_uc001lal.3_Missense_Mutation_p.P139S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	139						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCGGGGTCTGGCAGAGCTCCT	0.478													A	115413830	G	A	115413830	3	1	273	1	0	0	0	0	1	0	0	0	10638	1203	42	2	4929	2	NRAP	10	115413830	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2192	115413830	20120917	1006	138303											
NHLRC2	374354	broad.mit.edu	37	chr10	115661456	115661456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacctgccttaggtttGctggaagtggaaatgaagag	14	5	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:115661456G>A	uc001lax.1	+	7	1383	c.1171G>A	c.(1171-1173)GCT>ACT	p.A391T	NHLRC2_uc001lay.1_RNA	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	391					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		CCTTAGGTTTGCTGGAAGTGG	0.423													A	115661456	G	A	115661456	3	1	273	1	0	0	0	0	1	0	0	0	10406	1319	46	2	1197	2	NHLRC2	10	115661456	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	247626	115661456	19873291	1007	138304											
VWA2	340706	broad.mit.edu	37	chr10	116049203	116049203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccacgtggcagcttacgccGacctgcggtaccaccaggac	11	16	0	0	rs142413003		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:116049203G>A	uc001lbl.1	+	12	2398	c.2077G>A	c.(2077-2079)GAC>AAC	p.D693N	VWA2_uc001lbk.1_Missense_Mutation_p.D693N|VWA2_uc009xyf.1_Missense_Mutation_p.D389N	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	693	VWFA 3.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		AGCTTACGCCGACCTGCGGTA	0.647													A	116049203	G	A	116049203	3	1	273	1	0	0	0	0	1	0	0	0	17236	1058	37	1	2119	1	VWA2	10	116049203	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	387747	116049203	19485544	1008	138305											
KIAA1598	57698	broad.mit.edu	37	chr10	118713624	118713626	+	In_Frame_Del	DEL	TCA	TCA	-													ctgtgtctgtagtcgaatctTcatcatcaatgtttatctct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:118713623_118713625TTCA>T	uc021pzk.1	-	4	862_864	c.364_366TGAA>A	c.(364-366)gaa>A	p.E122del	KIAA1598_uc009xyw.3_In_Frame_Del_p.E122del|KIAA1598_uc001lcz.4_In_Frame_Del_p.E122del|KIAA1598_uc010qso.2_In_Frame_Del_p.E62del|KIAA1598_uc010qsp.1_In_Frame_Del_p.E122del|KIAA1598_uc010qsq.1_In_Frame_Del_p.E62del|KIAA1598_uc001lcy.4_In_Frame_Del_p.E92del	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	122					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TAGTCGAATCTTCATCATCAATG	0.379													-	118713626	TCA	-	118713624	7	5	273	1	0	1	0	1	0	0	0	0	8246	1783	62	0	1582	0	KIAA1598	10	118713624	In_Frame_Del	DEL	TCA	TCGA-HU-A4GT-01A-21D-A25D-08	2664421	118713624	16821123	1009	138306											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798647	119798647	+	Frame_Shift_Del	DEL	T	T	-													ttatcagatcttctgctatcTttttttccagtcactctttc					rs35192242		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:119798646_119798646CT>C	uc001ldj.2	-	2	1542	c.1102_1102AG>G	c.(1102-1104)gatfs	p.D368fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.D368fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	368					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)		CTTCTGCTATCTTTTTTTCCA	0.338													-	119798647	T	-	119798647	7	5	273	1	0	1	0	1	0	0	0	0	12894	1606	56	0	449	0	RAB11FIP2	10	119798647	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1085023	119798647	15736100	1010	138307											
FAM45A	404636	broad.mit.edu	37	chr10	120883018	120883018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaccgacaggactggAccatccttcactcttacgtg	10	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:120883018A>G	uc001ldw.2	+	6	675	c.631A>G	c.(631-633)ACC>GCC	p.T211A	FAM45A_uc010qsv.1_Missense_Mutation_p.T203A|FAM45A_uc010qsw.1_Missense_Mutation_p.T60A|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.T138A|FAM45A_uc010qsz.1_Missense_Mutation_p.T100A	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	hypothetical protein LOC404636	211										ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACAGGACTGGACCATCCTTCA	0.502													G	120883018	A	G	120883018	3	3	273	1	0	0	0	0	1	0	0	0	5564	275	10	3	653	3	FAM45A	10	120883018	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1084371	120883018	14651729	1011	138308											
FGFR2	2263	broad.mit.edu	37	chr10	123279676	123279676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggatgggccggtgaggCgatcgctctggtggagagag	21	6	1	2	rs138769323		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:123279676C>T	uc010qtk.1	-	7	1403	c.756G>A	c.(754-756)TCG>TCA	p.S252S	FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Silent_p.S137S|FGFR2_uc010qti.1_Silent_p.S163S|FGFR2_uc010qtj.1_Silent_p.S252S|FGFR2_uc010qtl.1_Silent_p.S252S|FGFR2_uc010qtm.1_Silent_p.S137S|FGFR2_uc001lfl.3_Silent_p.S252S|FGFR2_uc001lfm.2_Silent_p.S163S|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Silent_p.S271S|FGFR2_uc010qto.1_Silent_p.S156S|FGFR2_uc001lfo.1_Silent_p.S271S|FGFR2_uc010qtp.1_Silent_p.S271S|FGFR2_uc001lfg.3_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	252	Extracellular (Potential).		S -> W (in APRS and PS; common mutation).|S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|SP -> FS (in PS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.S252W(19)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCCGGTGAGGCGATCGCTCTG	0.562		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome				T	123279676	C	T	123279676	2	4	273	1	0	0	0	0	0	0	0	1	5866	755	27	1		1	FGFR2	10	123279676	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2396658	123279676	12255071	1012	138309											
PLEKHA1	59338	broad.mit.edu	37	chr10	124189200	124189200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctaccaacgcagccaccGccacctcacattccacagcc	5	21	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:124189200G>A	uc001lge.1	+	12	1084	c.961G>A	c.(961-963)GCC>ACC	p.A321T	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.A321T	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	321					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCAGCCACCGCCACCTCACA	0.547													A	124189200	G	A	124189200	3	1	273	1	0	0	0	0	1	0	0	0	12055	1087	38	1	1003	1	PLEKHA1	10	124189200	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	909524	124189200	11345547	1013	138310											
HTRA1	5654	broad.mit.edu	37	chr10	124273782	124273782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccaatgatgtcagcgaCgtcattaaaagggaaagcac	10	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:124273782C>T	uc001lgj.2	+	9	1478	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	450	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGTCAGCGACGTCATTAAAA	0.483													T	124273782	C	T	124273782	2	4	273	1	0	0	0	0	0	0	0	1	7453	535	19	1		1	HTRA1	10	124273782	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	84582	124273782	11260965	1014	138311											
DMBT1	1755	broad.mit.edu	37	chr10	124345642	124345642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagggccgagtggaggTcctataccgaggctcctggg	17	10	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:124345642T>C	uc001lgk.1	+	16	1632	c.1526T>C	c.(1525-1527)GTC>GCC	p.V509A	DMBT1_uc001lgl.1_Missense_Mutation_p.V499A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.V509A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	509	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGAGTGGAGGTCCTATACCGA	0.582													C	124345642	T	C	124345642	3	2	273	1	0	0	0	0	1	0	0	0	4577	1667	58	3	1588	3	DMBT1	10	124345642	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	71860	124345642	11189105	1015	138312											
ZRANB1	54764	broad.mit.edu	37	chr10	126673497	126673497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatggcttgaccgctaccGacagatccggccgtgtacat	10	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:126673497G>A	uc001lic.2	+	9	2434	c.2063G>A	c.(2062-2064)CGA>CAA	p.R688Q	ZRANB1_uc010qug.1_Missense_Mutation_p.R714Q	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	688					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			ovary(1)|kidney(1)	2		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)		GACCGCTACCGACAGATCCGG	0.507													A	126673497	G	A	126673497	3	1	273	1	0	0	0	0	1	0	0	0	18219	1058	37	1	2097	1	ZRANB1	10	126673497	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2327855	126673497	8861250	1016	138313											
CLRN3	119467	broad.mit.edu	37	chr10	129682059	129682059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccagagctcagcagcgAcgtgatcaaactcaggacca	9	13	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:129682059A>G	uc001lka.1	-	2	473	c.310T>C	c.(310-312)TCG>CCG	p.S104P	CLRN3_uc001ljz.1_Missense_Mutation_p.S36P	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	104	Helical; (Potential).					integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				CTCAGCAGCGACGTGATCAAA	0.488													G	129682059	A	G	129682059	3	3	273	1	0	0	0	0	1	0	0	0	3559	275	10	3	378	3	CLRN3	10	129682059	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3008562	129682059	5852688	1017	138314											
EBF3	253738	broad.mit.edu	37	chr10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-													caattatgatgacggtggcaCcccccgtggtccagccttca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:131666124_131666124AC>A	uc021qav.1	-	8	866	c.765_765GT>T	c.(763-765)ggtfs	p.G255fs	EBF3_uc001lki.2_Frame_Shift_Del_p.G269fs	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	278					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)		TGACGGTGGCACCCCCCGTGG	0.577													-	131666125	C	-	131666125	7	5	273	1	0	1	0	1	0	0	0	0	4882	507	18	0	881	0	EBF3	10	131666125	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	1984066	131666125	3868622	1018	138315											
TUBGCP2	10844	broad.mit.edu	37	chr10	135096605	135096605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcagttggtgaacatgaCgcacacagacatgagcttgg	12	9	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:135096605C>T	uc001lmg.1	-	15	2623	c.2266G>A	c.(2266-2268)GTC>ATC	p.V756I	TUBGCP2_uc001lmf.1_Missense_Mutation_p.V349I|TUBGCP2_uc010qvc.1_Missense_Mutation_p.V784I|TUBGCP2_uc009ybk.1_Missense_Mutation_p.V779I|TUBGCP2_uc010qvd.1_Missense_Mutation_p.V626I|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	756					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		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)		GTGAACATGACGCACACAGAC	0.632													T	135096605	C	T	135096605	3	4	273	1	0	0	0	0	1	0	0	0	16763	536	19	1	458	1	TUBGCP2	10	135096605	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3430480	135096605	438142	1019	138316											
PTDSS2	81490	broad.mit.edu	37	chr11	486958	486958	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgtccaggacggccggcAgtttctaaagtatgttgacc	12	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:486958A>C	uc001lpj.2	+	5	631	c.455A>C	c.(454-456)CAG>CCG	p.Q152P		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	152	Extracellular (Potential).					integral to membrane					0		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;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GACGGCCGGCAGTTTCTAAAG	0.542													C	486958	A	C	486958	3	2	273	1	0	0	0	0	1	0	0	0	12737	188	7	5	473	5	PTDSS2	11	486958	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08		486958	134519558	1020	138317											
RASSF7	8045	broad.mit.edu	37	chr11	562253	562253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccctcctcagacagctGtccacccccggaacgctgcc	10	19	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:562253G>A	uc001lqc.2	+	3	334	c.299G>A	c.(298-300)TGT>TAT	p.C100Y	C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.C100Y|RASSF7_uc001lqb.2_Missense_Mutation_p.C100Y|RASSF7_uc001lqd.2_Missense_Mutation_p.C100Y	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family	100					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			skin(1)	1		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)		TCAGACAGCTGTCCACCCCCG	0.672													A	562253	G	A	562253	3	1	273	1	0	0	0	0	1	0	0	0	13091	1377	48	4	305	4	RASSF7	11	562253	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	75295	562253	134444263	1021	138318											
MUC5B	727897	broad.mit.edu	37	chr11	1250965	1250965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctgcctgcccctcgGgcagtgcccctgcacccacg	11	20	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:1250965G>T	uc009ycr.1	+	26	3251	c.3125G>T	c.(3124-3126)GGG>GTG	p.G1042V	MUC5B_uc009yct.1_Missense_Mutation_p.G383V|MUC5B_uc001ltb.2_Missense_Mutation_p.G386V|MUC5B_uc001lta.2_Missense_Mutation_p.G51V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	383	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CTGCCCCTCGGGCAGTGCCCC	0.697													T	1250965	G	T	1250965	3	4	273	1	0	0	0	0	1	0	0	0	9979	1232	43	5	1195	5	MUC5B	11	1250965	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	688712	1250965	133755551	1022	138319											
BRSK2	9024	broad.mit.edu	37	chr11	1471011	1471011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtgacctccaggtctcGgtccatcagcggtgcctcct	10	16	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:1471011G>A	uc001lti.2	+	13	1618	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	BRSK2_uc009ycv.1_Missense_Mutation_p.R433Q|BRSK2_uc001lth.1_Missense_Mutation_p.R411Q|BRSK2_uc001ltj.2_Missense_Mutation_p.R411Q|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.R411Q|BRSK2_uc001ltm.2_Missense_Mutation_p.R457Q|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_5'Flank	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	411					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		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)		TCCAGGTCTCGGTCCATCAGC	0.687													A	1471011	G	A	1471011	3	1	273	1	0	0	0	0	1	0	0	0	1524	1116	39	1	1282	1	BRSK2	11	1471011	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	220046	1471011	133535505	1023	138320											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651222	1651222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggggctgtggctccgGctgtgcgggctgtgggggat	22	8	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:1651222G>A	uc001lty.2	+	1	190	c.152G>A	c.(151-153)GGC>GAC	p.G51D		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	51						keratin filament				lung(1)	1		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)		tgtggctccggctgtgcgggc	0.199													A	1651222	G	A	1651222	3	1	273	1	0	0	0	0	1	0	0	0	8564	1203	42	2	154	2	KRTAP5-5	11	1651222	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	180211	1651222	133355294	1024	138321											
OR56A1	120796	broad.mit.edu	37	chr11	6048455	6048455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgggtgcagtaagaagCgcattccgcaccacaatgaa	12	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6048455C>T	uc010qzw.1	-	1	480	c.480G>A	c.(478-480)GCG>GCA	p.A160A		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		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)		CAGTAAGAAGCGCATTCCGCA	0.498													T	6048455	C	T	6048455	2	4	273	1	0	0	0	0	0	0	0	1	11133	755	27	1		1	OR56A1	11	6048455	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4397233	6048455	128958061	1025	138322											
OR52W1	120787	broad.mit.edu	37	chr11	6221292	6221292	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaaagcctgtgcacaTccttctctccaacatctact	4	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6221292T>A	uc010qzz.1	+	1	839	c.839T>A	c.(838-840)ATC>AAC	p.I280N		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		CCTGTGCACATCCTTCTCTCC	0.537													A	6221292	T	A	6221292	3	1	273	1	0	0	0	0	1	0	0	0	11132	1435	50	5	841	5	OR52W1	11	6221292	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	172837	6221292	128785224	1026	138323											
SMPD1	6609	broad.mit.edu	37	chr11	6412854	6412854	+	Frame_Shift_Del	DEL	C	C	-													tgcctactgtgccgaagccgCcccccaaaccccctagcccc					rs74053349	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6412854delC	uc001mcw.2	+	2	733	c.559delC	c.(559-561)CCCfs	p.P187fs	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Frame_Shift_Del_p.P187fs|SMPD1_uc009yew.2_Frame_Shift_Del_p.P186fs	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	185					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				0		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)	GCCGAAGCCGCCCCCCAAACC	0.627													-	6412854	C	-	6412854	7	5	273	1	0	1	0	1	0	0	0	0	14804	739	26	0	565	0	SMPD1	11	6412854	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	191562	6412854	128593662	1027	138324											
DNHD1	144132	broad.mit.edu	37	chr11	6524067	6524067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagacttccttcctggaTagccaggtgatgactgctct	10	12	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6524067T>C	uc001mdw.3	+	4	1395	c.831T>C	c.(829-831)GAT>GAC	p.D277D	DNHD1_uc001mdp.2_Silent_p.D277D	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	277					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		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)		CCTTCCTGGATAGCCAGGTGA	0.488													C	6524067	T	C	6524067	2	2	273	1	0	0	0	0	0	0	0	1	4668	1403	49	3		3	DNHD1	11	6524067	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	111213	6524067	128482449	1028	138325											
ILK	3611	broad.mit.edu	37	chr11	6630018	6630018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccctgagagagcttctccGaggtccatctcccccatccc	7	19	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6630018G>A	uc001mee.2	+	5	581	c.446G>A	c.(445-447)CGA>CAA	p.R149Q	ILK_uc001mef.2_Missense_Mutation_p.R149Q|ILK_uc010rap.1_Missense_Mutation_p.R15Q|ILK_uc010raq.1_Intron|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Missense_Mutation_p.R149Q|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	149	ANK 5.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GAGCTTCTCCGAGGTCCATCT	0.552													A	6630018	G	A	6630018	3	1	273	1	0	0	0	0	1	0	0	0	7713	1058	37	1	460	1	ILK	11	6630018	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	105951	6630018	128376498	1029	138326											
DCHS1	8642	broad.mit.edu	37	chr11	6645397	6645397	+	Frame_Shift_Del	DEL	G	G	-													atcagcatctgtagcctccaGggtgagcagagtggagccag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6645397delG	uc001mem.1	-	21	7920	c.7510delC	c.(7510-7512)CTGfs	p.L2504fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2504	Cadherin 24.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGCCTCCAGGGTGAGCAGA	0.612													-	6645397	G	-	6645397	7	5	273	1	0	1	0	1	0	0	0	0	4287	991	35	0	2390	0	DCHS1	11	6645397	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	15379	6645397	128361119	1030	138327											
OR2D2	120776	broad.mit.edu	37	chr11	6913395	6913395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcactgcaagaagggCgcactgggtacacccaaaaa	11	11	1	1	rs147307045	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6913395C>T	uc010rau.1	-	1	337	c.337G>A	c.(337-339)GCC>ACC	p.A113T		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAAGAAGGGCGCACTGGGTA	0.488													T	6913395	C	T	6913395	3	4	273	1	0	0	0	0	1	0	0	0	10994	768	27	1	592	1	OR2D2	11	6913395	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	267998	6913395	128093121	1031	138328											
NLRP14	338323	broad.mit.edu	37	chr11	7092507	7092509	+	In_Frame_Del	DEL	GAA	GAA	-													cagattgtaactatcataatGaagaagatgtgtcttggtgg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:7092506_7092508TGAA>T	uc001mfb.1	+	11	3572_3574	c.3249_3251TGAA>T	c.(3247-3252)aatgaa>aaTa	p.E1085del		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1085					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(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)		ACTATCATAATGAAGAAGATGTG	0.365													-	7092509	GAA	-	7092507	7	5	273	1	0	1	0	1	0	0	0	0	10476	1291	45	0	3292	0	NLRP14	11	7092507	In_Frame_Del	DEL	GAA	TCGA-HU-A4GT-01A-21D-A25D-08	179112	7092507	127914009	1032	138329											
AMPD3	272	broad.mit.edu	37	chr11	10524275	10524275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttttgcagagtccggTattgcagtatctctactacc	9	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:10524275T>C	uc001mio.1	+	13	2185	c.1850T>C	c.(1849-1851)GTA>GCA	p.V617A	AMPD3_uc010rbz.1_Missense_Mutation_p.V458A|AMPD3_uc001min.1_Missense_Mutation_p.V626A|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.V624A|AMPD3_uc009yfy.2_Missense_Mutation_p.V617A	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	617					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGAGTCCGGTATTGCAGTAT	0.363													C	10524275	T	C	10524275	3	2	273	1	0	0	0	0	1	0	0	0	587	1638	57	3	1947	3	AMPD3	11	10524275	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3431768	10524275	124482241	1033	138330											
RNF141	50862	broad.mit.edu	37	chr11	10536575	10536575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatttgctccagtcatcTgtaggcgacaaatagggcaa	9	9	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:10536575T>C	uc001mis.1	-	6	734	c.581A>G	c.(580-582)CAG>CGG	p.Q194R	RNF141_uc009yga.1_RNA	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	ring finger protein 141	194							zinc ion binding				0				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		TCCAGTCATCTGTAGGCGACA	0.403													C	10536575	T	C	10536575	3	2	273	1	0	0	0	0	1	0	0	0	13444	1580	55	3	115	3	RNF141	11	10536575	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	12300	10536575	124469941	1034	138331											
COPB1	1315	broad.mit.edu	37	chr11	14496077	14496077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaaccaaagctacataGcgcaatgcaatcttggtcag	8	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:14496077G>A	uc001mli.2	-	14	2008	c.1701C>T	c.(1699-1701)CGC>CGT	p.R567R	COPB1_uc001mlg.2_Silent_p.R567R|COPB1_uc001mlh.2_Silent_p.R567R	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	567					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			ovary(1)|central_nervous_system(1)	2						AAGCTACATAGCGCAATGCAA	0.328													A	14496077	G	A	14496077	2	1	273	1	0	0	0	0	0	0	0	1	3728	958	34	2		2	COPB1	11	14496077	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3959502	14496077	120510439	1035	138332											
ABCC8	6833	broad.mit.edu	37	chr11	17464410	17464410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcgttggtctgcttcAgccgctcattggaatactcc	9	13	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:17464410A>G	uc001mnc.2	-	10	1613	c.1487T>C	c.(1486-1488)CTG>CCG	p.L496P	ABCC8_uc010rcy.1_Missense_Mutation_p.L495P	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	496	Cytoplasmic (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGTCTGCTTCAGCCGCTCATT	0.612													G	17464410	A	G	17464410	3	3	273	1	0	0	0	0	1	0	0	0	58	188	7	3	3378	3	ABCC8	11	17464410	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2968333	17464410	117542106	1036	138333											
KCNC1	3746	broad.mit.edu	37	chr11	17793944	17793944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatgcccgtgcccgtcAtcgtgaacaatttcgggatg	11	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:17793944A>G	uc001mnk.3	+	2	1358	c.1303A>G	c.(1303-1305)ATC>GTC	p.I435V	KCNC1_uc009yhc.1_Missense_Mutation_p.I435V	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	435	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CGTGCCCGTCATCGTGAACAA	0.572													G	17793944	A	G	17793944	3	3	273	1	0	0	0	0	1	0	0	0	8014	217	8	3	1309	3	KCNC1	11	17793944	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	329534	17793944	117212572	1037	138334											
NAV2	89797	broad.mit.edu	37	chr11	20066984	20066984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattagcagcaagtccgcaGgcctgccagtgcccaaactg	10	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:20066984G>T	uc010rdm.1	+	15	4100	c.3739G>T	c.(3739-3741)GGC>TGC	p.G1247C	NAV2_uc001mpp.2_Missense_Mutation_p.G1160C|NAV2_uc001mpr.3_Missense_Mutation_p.G1224C|NAV2_uc001mpt.2_Missense_Mutation_p.G310C|NAV2_uc009yhx.2_Missense_Mutation_p.G310C|NAV2_uc009yhy.1_Missense_Mutation_p.G223C	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1247						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CAAGTCCGCAGGCCTGCCAGT	0.567													T	20066984	G	T	20066984	3	4	273	1	0	0	0	0	1	0	0	0	10184	1000	35	5	3833	5	NAV2	11	20066984	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2273040	20066984	114939532	1038	138335											
NAV2	89797	broad.mit.edu	37	chr11	20113820	20113820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaggcagtggctgcagCcgggctccttcccaagtgtc	12	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:20113820C>T	uc001mpr.3	+	28	6091	c.5730C>T	c.(5728-5730)AGC>AGT	p.S1910S	NAV2_uc001mpp.2_Silent_p.S1843S|NAV2_uc009yhx.2_Silent_p.S971S|NAV2_uc009yhz.2_Silent_p.S552S|NAV2_uc001mpu.2_Silent_p.S345S	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1966						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GTGGCTGCAGCCGGGCTCCTT	0.547													T	20113820	C	T	20113820	2	4	273	1	0	0	0	0	0	0	0	1	10184	738	26	2		2	NAV2	11	20113820	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	46836	20113820	114892696	1039	138336											
PAX6	5080	broad.mit.edu	37	chr11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-													tcatgtgtgtctgcatatgtGggggggtgtaggtatcataa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:31812317delG	uc001mtd.3	-	11	2014	c.1124delC	c.(1123-1125)CCAfs	p.P375fs	PAX6_uc001mte.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.3_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.3_Frame_Shift_Del_p.P375fs|PAX6_uc009yjr.2_Frame_Shift_Del_p.P375fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				-	31812317	G	-	31812317	7	5	273	1	0	1	0	1	0	0	0	0	11483	1348	47	0	152	0	PAX6	11	31812317	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	11698497	31812317	103194199	1040	138337											
C11orf41	25758	broad.mit.edu	37	chr11	33565884	33565884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccccaagaaatggacaggTgcagccactaatgcaggtag	11	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:33565884T>C	uc001mup.3	+	1	2008	c.1884T>C	c.(1882-1884)GGT>GGC	p.G628G	C11orf41_uc001mun.1_Silent_p.G628G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				ovary(2)	2						AATGGACAGGTGCAGCCACTA	0.507													C	33565884	T	C	33565884	2	2	273	1	0	0	0	0	0	0	0	1	1640	1683	59	3		3	C11orf41	11	33565884	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1753567	33565884	101440632	1041	138338											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					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						CATCCAAGGTACCCCCCCATG	0.522													-	35513670	C	-	35513670	7	5	273	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	1947786	35513670	99492846	1042	138339											
RAG1	5896	broad.mit.edu	37	chr11	36597722	36597723	+	Frame_Shift_Ins	INS	-	-	G													ttgagagggatggctccattINSggggcatgggcaagtgaggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:36597722_36597723insG	uc001mwu.3	+	2	2992_2993	c.2868_2869insG	c.(2866-2871)ATTGGGfs	p.I956fs	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	956_957					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			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGGCTCCATTGGGGCATGGGC	0.436									Familial_Hemophagocytic_Lymphohistiocytosis				G	36597723	-	G	36597722	7	5	273	1	0	1	1	0	0	0	0	0	13003	1800	63	0	2870	0	RAG1	11	36597722	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1084052	36597722	98408794	1043	138340	732	2									
RAG1	5896	broad.mit.edu	37	chr11	36597723	36597724	+	Frame_Shift_Ins	INS	-	-	G													tgagagggatggctccattgINSgggcatgggcaagtgaggga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:36597722_36597723T>TG	uc021qgb.1	+	0	2868_2869	c.2868_2869T>TG	c.(2866-2871)attgggfs	p.I956fs	RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Frame_Shift_Ins_p.I956fs	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	956					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	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)				ATGGCTCCATTGGGGCATGGGC	0.436									Familial Hemophagocytic Lymphohistiocytosis				G	36597724	-	G	36597723	7	5	273	1	0	1	1	0	0	0	0	0	13003	1348	47	0	2871	0	RAG1	11	36597723	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	36597723	98408793	1044	138341	732	2									
ACCS	84680	broad.mit.edu	37	chr11	44102617	44102617	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgggcaaccagcaaggTgagttcctggctggccttgg	16	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:44102617T>C	uc009yks.1	+	11	1113	c.969_splice	c.e11+2	p.K323_splice	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Splice_Site_p.K323_splice	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						ACCAGCAAGGTGAGTTCCTGG	0.617													C	44102617	T	C	44102617	5	2	273	1	0	0	0	0	0	0	1	0	133	1710	59	3	1009	3	ACCS	11	44102617	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	7504894	44102617	90903899	1045	138342											
DGKZ	8525	broad.mit.edu	37	chr11	46388002	46388002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctgagttgcggggtgAgggcccagggttccagccgc	17	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:46388002A>G	uc001ncn.1	+	2	321	c.196A>G	c.(196-198)AGG>GGG	p.R66G	DGKZ_uc001nch.1_Intron|DGKZ_uc010rgq.1_Intron|DGKZ_uc001ncj.1_Intron|DGKZ_uc010rgr.1_Intron|DGKZ_uc001nck.1_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.1_Intron	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	66					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|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTGCGGGGTGAGGGCCCAGGG	0.716													G	46388002	A	G	46388002	3	3	273	1	0	0	0	0	1	0	0	0	4474	295	11	3	642	3	DGKZ	11	46388002	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2285385	46388002	88618514	1046	138343											
AMBRA1	55626	broad.mit.edu	37	chr11	46564191	46564191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgtacacagatgccTgagagccaccttcctgctgt	10	12	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:46564191T>C	uc010rgu.1	-	7	1736	c.1376A>G	c.(1375-1377)CAG>CGG	p.Q459R	AMBRA1_uc010rgt.1_Missense_Mutation_p.Q25R|AMBRA1_uc009ylc.1_Missense_Mutation_p.Q459R|AMBRA1_uc001ncu.1_Missense_Mutation_p.Q369R|AMBRA1_uc001ncv.2_Missense_Mutation_p.Q369R|AMBRA1_uc001ncw.2_Missense_Mutation_p.Q369R|AMBRA1_uc001ncx.2_Missense_Mutation_p.Q459R	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	459					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CACAGATGCCTGAGAGCCACC	0.577													C	46564191	T	C	46564191	3	2	273	1	0	0	0	0	1	0	0	0	565	1580	55	3	2568	3	AMBRA1	11	46564191	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	176189	46564191	88442325	1047	138344											
F2	2147	broad.mit.edu	37	chr11	46747567	46747567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctggcctgggccagcGcacaggccaaggccctgagc	14	17	0	1	rs141678604		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:46747567G>T	uc001ndf.3	+	7	761	c.718G>T	c.(718-720)GCA>TCA	p.A240S	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	240	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		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)	CTGGGCCAGCGCACAGGCCAA	0.657													T	46747567	G	T	46747567	3	4	273	1	0	0	0	0	1	0	0	0	5342	1087	38	5	744	5	F2	11	46747567	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	183376	46747567	88258949	1048	138345											
NR1H3	10062	broad.mit.edu	37	chr11	47282096	47282096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcaagggattcttccgCcgcagcgtcatcaagggagc	14	12	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:47282096C>T	uc009ylm.2	+	4	590	c.369C>T	c.(367-369)CGC>CGT	p.R123R	NR1H3_uc009yll.1_Silent_p.R129R|NR1H3_uc010rhk.1_Silent_p.R129R|NR1H3_uc001nek.2_Silent_p.R78R|NR1H3_uc001nej.2_Silent_p.R123R|NR1H3_uc001nel.2_Silent_p.R78R|NR1H3_uc001nen.3_Silent_p.R123R|NR1H3_uc001nem.2_Silent_p.R123R|NR1H3_uc001nep.2_Silent_p.R32R	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	123	Nuclear receptor.				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			ovary(2)|lung(1)	3						GATTCTTCCGCCGCAGCGTCA	0.607													T	47282096	C	T	47282096	2	4	273	1	0	0	0	0	0	0	0	1	10618	726	26	2		2	NR1H3	11	47282096	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	534529	47282096	87724420	1049	138346											
C1QTNF4	114900	broad.mit.edu	37	chr11	47612277	47612277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgccgagaaggccgagCgcagctcagaggatcccggg	17	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:47612277C>T	uc001ngc.2	-	2	353	c.86G>A	c.(85-87)CGC>CAC	p.R29H		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	29	C1q 1.					extracellular region					0						GAAGGCCGAGCGCAGCTCAGA	0.716													T	47612277	C	T	47612277	3	4	273	1	0	0	0	0	1	0	0	0	1965	768	27	1	907	1	C1QTNF4	11	47612277	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	330181	47612277	87394239	1050	138347											
OR5L1	219437	broad.mit.edu	37	chr11	55579770	55579770	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgacaaagtggccaccgtGttctacacagtcgtgattcc	10	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:55579770G>T	uc001nhw.1	+	1	828	c.828G>T	c.(826-828)GTG>GTT	p.V276V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TGGCCACCGTGTTCTACACAG	0.463													T	55579770	G	T	55579770	2	4	273	1	0	0	0	0	0	0	0	1	11170	1364	48	5		5	OR5L1	11	55579770	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7967493	55579770	79426746	1051	138348											
OR5I1	10798	broad.mit.edu	37	chr11	55703317	55703317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgcaggatagtttaAgcaggggagggaggtcacag	17	5	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:55703317A>G	uc010ris.1	-	1	560	c.560T>C	c.(559-561)CTT>CCT	p.L187P		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGATAGTTTAAGCAGGGGAGG	0.403													G	55703317	A	G	55703317	3	3	273	1	0	0	0	0	1	0	0	0	11164	72	3	3	387	3	OR5I1	11	55703317	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	123547	55703317	79303199	1052	138349											
OR5M3	219482	broad.mit.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-													acaaccagcataagtaattgTttttttatctgataacaggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					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)					ATAAGTAATTGTTTTTTTATC	0.363													-	56237709	T	-	56237709	7	5	273	1	0	1	0	1	0	0	0	0	11175	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	534392	56237709	78768807	1053	138350											
OR5M10	390167	broad.mit.edu	37	chr11	56345112	56345112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtagatcgccaggaacaccCcaaacaggatcttctctagc	9	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:56345112C>A	uc001niz.1	-	1	86	c.86G>T	c.(85-87)GGG>GTG	p.G29V		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAGGAACACCCCAAACAGGAT	0.468													A	56345112	C	A	56345112	3	1	273	1	0	0	0	0	1	0	0	0	11173	623	22	5	865	5	OR5M10	11	56345112	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	107403	56345112	78661404	1054	138351											
OR5AK2	390181	broad.mit.edu	37	chr11	56757091	56757091	+	Frame_Shift_Del	DEL	A	A	-													tgtcttctagtgcaggaaggAaaaaatccttctcaacatgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:56757090_56757090GA>G	uc010rjp.2	+	0	702	c.702_702GA>G	c.(700-702)aggfs	p.R234fs		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423													-	56757091	A	-	56757091	7	5	273	1	0	1	0	1	0	0	0	0	11142	247	9	0	705	0	OR5AK2	11	56757091	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	411979	56757091	78249425	1055	138352											
PRG3	10394	broad.mit.edu	37	chr11	57146221	57146221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctagtgcagcactgaatgCgatagttgaagttgaagtca	12	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:57146221C>T	uc001njv.1	-	4	550	c.440G>A	c.(439-441)CGC>CAC	p.R147H		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	147	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						GCACTGAATGCGATAGTTGAA	0.507													T	57146221	C	T	57146221	3	4	273	1	0	0	0	0	1	0	0	0	12480	768	27	1	249	1	PRG3	11	57146221	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	389130	57146221	77860295	1056	138353											
OSBP	5007	broad.mit.edu	37	chr11	59345670	59345670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctttcctctgcttcaTggcctctctgtcgagcatca	7	16	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:59345670T>C	uc001noc.1	-	12	2492	c.2012A>G	c.(2011-2013)CAT>CGT	p.H671R	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	671					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTCTGCTTCATGGCCTCTCTG	0.498													C	59345670	T	C	59345670	3	2	273	1	0	0	0	0	1	0	0	0	11273	1464	51	3	423	3	OSBP	11	59345670	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2199449	59345670	75660846	1057	138354											
OSBP	5007	broad.mit.edu	37	chr11	59345799	59345799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatctgtcacttcccccGtcacctgcaagggtggagaa	11	12	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:59345799G>A	uc001noc.1	-	12	2363	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	628					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CACTTCCCCCGTCACCTGCAA	0.453													A	59345799	G	A	59345799	3	1	273	1	0	0	0	0	1	0	0	0	11273	1145	40	1	552	1	OSBP	11	59345799	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	129	59345799	75660717	1058	138355											
PATL1	219988	broad.mit.edu	37	chr11	59425190	59425190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctaatacagacactgtaGgcatttcctaattgaggaag	8	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:59425190G>T	uc001noe.3	-	5	577	c.434C>A	c.(433-435)CCT>CAT	p.P145H	PATL1_uc009yms.1_Missense_Mutation_p.P145H|PATL1_uc010rkw.1_5'UTR	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	145	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						AGACACTGTAGGCATTTCCTA	0.393													T	59425190	G	T	59425190	3	4	273	1	0	0	0	0	1	0	0	0	11475	1000	35	5	1938	5	PATL1	11	59425190	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	79391	59425190	75581326	1059	138356											
DDB1	1642	broad.mit.edu	37	chr11	61099040	61099040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaaaagctccatgaccGcaatcttcccatacatgccc	6	16	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61099040G>A	uc001nrc.3	-	2	411	c.185C>T	c.(184-186)GCG>GTG	p.A62V	DDB1_uc010rle.1_Missense_Mutation_p.A62V|DDB1_uc010rlf.1_Missense_Mutation_p.A62V|DDB1_uc001nrd.2_Missense_Mutation_p.A62V|DDB1_uc009ynl.1_Missense_Mutation_p.A62V|DAK_uc001nre.2_5'Flank	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	62	Interaction with CDT1.				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			ovary(2)|lung(1)|central_nervous_system(1)	4						CTCCATGACCGCAATCTTCCC	0.483								NER					A	61099040	G	A	61099040	3	1	273	1	0	0	0	0	1	0	0	0	4323	1087	38	1	3341	1	DDB1	11	61099040	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1673850	61099040	73907476	1060	138357											
DAGLA	747	broad.mit.edu	37	chr11	61511766	61511766	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccacggctctttgccggCtcagccgacccctcctcggg	10	21	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61511766C>A	uc001nsa.2	+	20	3045	c.2934C>A	c.(2932-2934)GGC>GGA	p.G978G		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	978	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TCTTTGCCGGCTCAGCCGACC	0.677													A	61511766	C	A	61511766	2	1	273	1	0	0	0	0	0	0	0	1	4226	784	28	5		5	DAGLA	11	61511766	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	412726	61511766	73494750	1061	138358											
C11orf9	745	broad.mit.edu	37	chr11	61539013	61539014	+	Frame_Shift_Ins	INS	-	-	C													aagaggaagcactctgaatcINScccccccagcaccctcaatg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61539012_61539013T>TC	uc001nsc.1	+	5	877_878	c.781_782T>TC	c.(781-783)tccfs	p.S261fs	C11orf9_uc001nse.1_Frame_Shift_Ins_p.S252fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCACTCTGAATCCCCCCCCAGC	0.634													C	61539014	-	C	61539013	7	5	273	1	0	1	1	0	0	0	0	0	1671	855	30	0	827	0	C11orf9	11	61539013	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	27247	61539013	73467503	1062	138359											
FADS2	9415	broad.mit.edu	37	chr11	61596030	61596030	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccatccagcacccggggggCcagcgggtcatcgggcacta	14	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61596030C>G	uc001nsl.1	+	1	318	c.168C>G	c.(166-168)GGC>GGG	p.G56G	FADS2_uc001nsj.2_Intron|FADS2_uc010rlo.1_Intron|FADS2_uc001nsk.2_Silent_p.G56G	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	56	Cytoplasmic (Potential).|Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	ACCCGGGGGGCCAGCGGGTCA	0.617											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	61596030	C	G	61596030	2	3	273	1	0	0	0	0	0	0	0	1	5366	726	26	5		5	FADS2	11	61596030	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	57017	61596030	73410486	1063	138360											
SCGB1A1	7356	broad.mit.edu	37	chr11	62189743	62189743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatcgaaaccctcctcAtggacacaccctccagttat	6	15	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:62189743A>G	uc001ntj.2	+	2	151	c.106A>G	c.(106-108)ATG>GTG	p.M36V		NM_003357	NP_003348	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1	36					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity				0						AACCCTCCTCATGGACACACC	0.557													G	62189743	A	G	62189743	3	3	273	1	0	0	0	0	1	0	0	0	13894	217	8	3	112	3	SCGB1A1	11	62189743	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	593713	62189743	72816773	1064	138361											
AHNAK	79026	broad.mit.edu	37	chr11	62299673	62299673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagtctgggccatgaacaTccacatctggggcatcaatg	11	12	3	1	rs144440482		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:62299673T>C	uc001ntl.2	-	5	2516	c.2216A>G	c.(2215-2217)GAT>GGT	p.D739G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	739					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCCATGAACATCCACATCTGG	0.488													C	62299673	T	C	62299673	3	2	273	1	0	0	0	0	1	0	0	0	414	1435	50	3	15576	3	AHNAK	11	62299673	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	109930	62299673	72706843	1065	138362											
EML3	256364	broad.mit.edu	37	chr11	62378802	62378803	+	Frame_Shift_Ins	INS	-	-	G													gcacgtgggtggcagtcctgINSggggggctgcaagactgctg					rs11553576	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:62378801_62378802T>TG	uc010rly.1	-	2	517_518	c.209_210A>CA	c.(208-210)ccafs	p.P70fs	EML3_uc001ntr.1_Frame_Shift_Ins_p.P42fs|EML3_uc001nts.1_Frame_Shift_Ins_p.P42fs|EML3_uc001ntt.1_5'UTR|EML3_uc001ntu.1_Frame_Shift_Ins_p.P70fs|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	70						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						GTGGCAGTCCTGGGGGGGCTGC	0.604													G	62378803	-	G	62378802	7	5	273	1	0	1	1	0	0	0	0	0	5098	1348	47	0	2561	0	EML3	11	62378802	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	79129	62378802	72627714	1066	138363											
SLC22A10	387775	broad.mit.edu	37	chr11	63064835	63064835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccattactgacacctgCgctgccttcgctcccacctt	6	18	0	1	rs150847763	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63064835C>T	uc009yor.2	+	3	775	c.567C>T	c.(565-567)TGC>TGT	p.C189C	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	189	Cytoplasmic (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CTGACACCTGCGCTGCCTTCG	0.433													T	63064835	C	T	63064835	2	4	273	1	0	0	0	0	0	0	0	1	14441	776	27	1		1	SLC22A10	11	63064835	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	686033	63064835	71941681	1067	138364											
RARRES3	5920	broad.mit.edu	37	chr11	63313655	63313655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgaagttggtgtggccaCggcgcttggaatcctggttg	17	7	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63313655C>T	uc001nxf.3	+	4	490	c.422C>T	c.(421-423)ACG>ATG	p.T141M		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	141					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						GGTGTGGCCACGGCGCTTGGA	0.512													T	63313655	C	T	63313655	3	4	273	1	0	0	0	0	1	0	0	0	13057	536	19	1	436	1	RARRES3	11	63313655	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	248820	63313655	71692861	1068	138365											
MARK2	2011	broad.mit.edu	37	chr11	63672263	63672263	+	Frame_Shift_Del	DEL	C	C	-													cttctcttcccacagcacagCcccccagcgtgtccctgttg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63672263delC	uc001nxw.2	+	16	2261	c.1682delC	c.(1681-1683)GCCfs	p.A561fs	MARK2_uc001nxx.2_Frame_Shift_Del_p.A507fs|MARK2_uc001nxy.2_Frame_Shift_Del_p.A506fs|MARK2_uc001nxv.3_Frame_Shift_Del_p.A506fs|MARK2_uc001nxz.3_Frame_Shift_Del_p.A527fs|MARK2_uc009yoy.2_Frame_Shift_Del_p.A481fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	561					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			stomach(1)|ovary(1)|lung(1)	3						CACAGCACAGCCCCCCAGCGT	0.642													-	63672263	C	-	63672263	7	5	273	1	0	1	0	1	0	0	0	0	9313	739	26	0	1744	0	MARK2	11	63672263	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	358608	63672263	71334253	1069	138366											
FERMT3	83706	broad.mit.edu	37	chr11	63987799	63987802	+	Splice_Site	DEL	GTGA	GTGA	-													tctacctgcggtgccaggatGtgagtgagggctgggcaggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63987799_63987802delGTGA	uc001nyl.2	+	11	1472	c.1323_splice	c.e11+1	p.D441_splice	FERMT3_uc001nym.2_Splice_Site_p.D437_splice	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form						integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						GTGCCAGGATGTGAGTGAgggctg	0.412													-	63987802	GTGA	-	63987799	8	5	273	1	0	1	0	1	0	0	1	0	5819	1391	48	0	1362	0	FERMT3	11	63987799	Splice_Site	DEL	GTGA	TCGA-HU-A4GT-01A-21D-A25D-08	315536	63987799	71018717	1070	138367											
MAP4K2	5871	broad.mit.edu	37	chr11	64566945	64566945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcgccaaatttcaccTggtgaactggggggcccaga	16	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64566945T>G	uc001obh.2	-	14	1093	c.1001A>C	c.(1000-1002)CAG>CCG	p.Q334P	MAP4K2_uc001obi.2_Missense_Mutation_p.Q334P	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	334					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						AAATTTCACCTGGTGAACTGG	0.592													G	64566945	T	G	64566945	3	3	273	1	0	0	0	0	1	0	0	0	9260	1580	55	5	1537	5	MAP4K2	11	64566945	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	579146	64566945	70439571	1071	138368											
CDC42BPG	55561	broad.mit.edu	37	chr11	64591974	64591974	+	Frame_Shift_Del	DEL	G	G	-													gctctccaattcaggggataGggggaggcttcggggccgtt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64591973_64591973AG>A	uc001obs.4	-	36	4628	c.4628_4628CT>T	c.(4627-4629)ctafs	p.L1543fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1543					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						TTCAGGGGATAGGGGGAGGCT	0.562													-	64591974	G	-	64591974	7	5	273	1	0	1	0	1	0	0	0	0	3074	991	35	0	32	0	CDC42BPG	11	64591974	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	25029	64591974	70414542	1072	138369											
PPP2R5B	5526	broad.mit.edu	37	chr11	64695592	64695592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagacttccagccctccGtggccaagagatatgtggat	11	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64695592G>A	uc001oby.2	+	5	1138	c.553G>A	c.(553-555)GTG>ATG	p.V185M	PPP2R5B_uc001obz.2_Missense_Mutation_p.V185M	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	185					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCAGCCCTCCGTGGCCAAGAG	0.557													A	64695592	G	A	64695592	3	1	273	1	0	0	0	0	1	0	0	0	12393	1145	40	1	567	1	PPP2R5B	11	64695592	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	103618	64695592	70310924	1073	138370											
SYVN1	84447	broad.mit.edu	37	chr11	64899754	64899754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcacagaggccccacGggtcaggatgctgtgatagg	15	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64899754G>T	uc001odb.2	-	6	590	c.496C>A	c.(496-498)CGT>AGT	p.R166S	SYVN1_uc001odc.2_Missense_Mutation_p.R166S|SYVN1_uc009yqc.2_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	166	Cytoplasmic (Potential).				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			ovary(1)	1						GAGGCCCCACGGGTCAGGATG	0.587													T	64899754	G	T	64899754	3	4	273	1	0	0	0	0	1	0	0	0	15484	1116	39	5	1401	5	SYVN1	11	64899754	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	204162	64899754	70106762	1074	138371											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349561	65349561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagtcaggaccagggatgAggctccctcaggcctgagcc	16	12	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:65349561A>G	uc001oeo.3	+	9	1683	c.1418A>G	c.(1417-1419)GAG>GGG	p.E473G	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	473										central_nervous_system(1)	1						ACCAGGGATGAGGCTCCCTCA	0.687													G	65349561	A	G	65349561	3	3	273	1	0	0	0	0	1	0	0	0	4976	304	11	3	1452	3	EHBP1L1	11	65349561	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	449807	65349561	69656955	1075	138372											
DRAP1	10589	broad.mit.edu	37	chr11	65687309	65687309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaggtggcggcggcggTgcctgtcatcatctgtatcc	16	10	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:65687309T>C	uc001ogj.1	+	2	346	c.101T>C	c.(100-102)GTG>GCG	p.V34A	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	34	Histone-fold.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)		GCGGCGGCGGTGCCTGTCATC	0.682													C	65687309	T	C	65687309	3	2	273	1	0	0	0	0	1	0	0	0	4755	1696	59	3	107	3	DRAP1	11	65687309	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	337748	65687309	69319207	1076	138373											
CATSPER1	117144	broad.mit.edu	37	chr11	65784571	65784571	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcgatgacggctgccTgggagcggaacttctgctgc	13	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:65784571T>G	uc001ogt.2	-	11	2414	c.2276A>C	c.(2275-2277)CAG>CCG	p.Q759P		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	759	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GACGGCTGCCTGGGAGCGGAA	0.647													G	65784571	T	G	65784571	3	3	273	1	0	0	0	0	1	0	0	0	2687	1580	55	5	74	5	CATSPER1	11	65784571	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	97262	65784571	69221945	1077	138374											
TMEM151A	256472	broad.mit.edu	37	chr11	66061945	66061945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcctggggcccgaggcCgccttggcccggggagccgg	19	15	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66061945C>T	uc001ohl.2	+	2	340	c.228C>T	c.(226-228)GCC>GCT	p.A76A		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	76						integral to membrane				central_nervous_system(1)	1						GGCCCGAGGCCGCCTTGGCCC	0.736													T	66061945	C	T	66061945	2	4	273	1	0	0	0	0	0	0	0	1	16067	639	23	1		1	TMEM151A	11	66061945	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	277374	66061945	68944571	1078	138375											
TMEM151A	256472	broad.mit.edu	37	chr11	66061972	66061972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggggagccgggggcccGccaccgacctacccggccag	16	19	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66061972G>A	uc001ohl.2	+	2	367	c.255G>A	c.(253-255)CCG>CCA	p.P85P		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	85						integral to membrane				central_nervous_system(1)	1						CCGGGGGCCCGCCACCGACCT	0.736													A	66061972	G	A	66061972	2	1	273	1	0	0	0	0	0	0	0	1	16067	1074	38	1		1	TMEM151A	11	66061972	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	27	66061972	68944544	1079	138376											
SPTBN2	6712	broad.mit.edu	37	chr11	66463954	66463954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgtgcaggtctctcaGcttctccgacaccagggctt	11	15	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66463954G>T	uc001ojd.2	-	20	4144	c.4072C>A	c.(4072-4074)CTG>ATG	p.L1358M		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1358	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGTCTCTCAGCTTCTCCGAC	0.587													T	66463954	G	T	66463954	3	4	273	1	0	0	0	0	1	0	0	0	15119	962	34	5	3172	5	SPTBN2	11	66463954	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	401982	66463954	68542562	1080	138377											
C11orf80	79703	broad.mit.edu	37	chr11	66605851	66605851	+	Frame_Shift_Del	DEL	A	A	-													ttttaagcagctaaccctagAaaaaaaggactcagcccagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66605850_66605850GA>G	uc021qmd.1	+	14	1688	c.1681_1681GA>G	c.(1681-1683)gaafs	p.E561fs	C11orf80_uc010rpl.2_Frame_Shift_Del_p.E195fs|C11orf80_uc001ojj.3_Frame_Shift_Del_p.E159fs	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	406										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCTAACCCTAGAAAAAAAGGA	0.478													-	66605851	A	-	66605851	7	5	273	1	0	1	0	1	0	0	0	0	1664	246	9	0	1740	0	C11orf80	11	66605851	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	141897	66605851	68400665	1081	138378											
PPP1CA	5499	broad.mit.edu	37	chr11	67166078	67166078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcaggccactgaactgCccgtacttccccttgttctt	9	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:67166078C>T	uc001okw.1	-	7	1044	c.921G>A	c.(919-921)GGG>GGA	p.G307G	PPP1CA_uc009yro.1_Silent_p.G125G|PPP1CA_uc001okt.1_Silent_p.G312G|PPP1CA_uc001oku.1_Silent_p.G318G|PPP1CA_uc001okv.1_Silent_p.G263G|PPP1CA_uc001okx.1_Silent_p.G395G|PPP1CA_uc001oky.2_Silent_p.G304G	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	307					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CACTGAACTGCCCGTACTTCC	0.607													T	67166078	C	T	67166078	2	4	273	1	0	0	0	0	0	0	0	1	12349	726	26	2		2	PPP1CA	11	67166078	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	560227	67166078	67840438	1082	138379											
LRP5	4041	broad.mit.edu	37	chr11	68153910	68153910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccattgccatcgactacgAcccgctagagggctatgtct	10	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:68153910A>G	uc001ont.2	+	6	1217	c.1142A>G	c.(1141-1143)GAC>GGC	p.D381G	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	381	Beta-propeller 2.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ATCGACTACGACCCGCTAGAG	0.652													G	68153910	A	G	68153910	3	3	273	1	0	0	0	0	1	0	0	0	8960	275	10	3	1164	3	LRP5	11	68153910	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	987832	68153910	66852606	1083	138380											
SAPS3	55291	broad.mit.edu	37	chr11	68341661	68341661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcactgacaagggcccCaacagtgcattagtgcagca	10	13	0	1	rs114505709	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:68341661C>T	uc001onw.2	+	13	1695	c.1428C>T	c.(1426-1428)CCC>CCT	p.P476P	SAPS3_uc001onv.2_Silent_p.P476P|SAPS3_uc001ony.3_Silent_p.P476P|SAPS3_uc001onx.2_Silent_p.P476P|SAPS3_uc009ysh.2_Silent_p.P425P|SAPS3_uc001onu.2_Silent_p.P425P|SAPS3_uc010rqc.1_Silent_p.P244P|SAPS3_uc010rqd.1_Silent_p.P188P|SAPS3_uc001onz.2_5'Flank	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	476					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			ACAAGGGCCCCAACAGTGCAT	0.448													T	68341661	C	T	68341661	2	4	273	1	0	0	0	0	0	0	0	1	13838	581	21	4		4	SAPS3	11	68341661	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	187751	68341661	66664855	1084	138381											
SHANK2	22941	broad.mit.edu	37	chr11	70332338	70332338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtaaagcaccttcggtttCggaaacaccttctggcacct	8	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:70332338C>T	uc001oqc.2	-	21	4138	c.4060G>A	c.(4060-4062)GAA>AAA	p.E1354K	SHANK2_uc010rqn.1_Missense_Mutation_p.E766K|SHANK2_uc001opz.2_Missense_Mutation_p.E759K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	975					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTTCGGTTTCGGAAACACCT	0.617													T	70332338	C	T	70332338	3	4	273	1	0	0	0	0	1	0	0	0	14265	893	31	1	1497	1	SHANK2	11	70332338	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1990677	70332338	64674178	1085	138382											
DHCR7	1717	broad.mit.edu	37	chr11	71150032	71150032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgacgatcccggggcGcccattgaagaacagcttga	13	13	0	3	rs80338856		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:71150032G>A	uc001oqk.2	-	7	974	c.724C>T	c.(724-726)CGC>TGC	p.R242C	DHCR7_uc001oql.2_Missense_Mutation_p.R242C	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	242			R -> H (in SLOS).|R -> C (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	ATCCCGGGGCGCCCATTGAAG	0.532									Smith-Lemli-Opitz_syndrome				A	71150032	G	A	71150032	3	1	273	1	0	0	0	0	1	0	0	0	4477	1087	38	1	715	1	DHCR7	11	71150032	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	817694	71150032	63856484	1086	138383											
INPPL1	3636	broad.mit.edu	37	chr11	71948719	71948719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcctgcacgctcagCgctcctcccaggccccctgg	12	19	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:71948719C>T	uc001osf.2	+	26	3578	c.3431C>T	c.(3430-3432)GCG>GTG	p.A1144V	INPPL1_uc001osg.2_Missense_Mutation_p.A902V	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1144					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GCACGCTCAGCGCTCCTCCCA	0.706													T	71948719	C	T	71948719	3	4	273	1	0	0	0	0	1	0	0	0	7761	768	27	1	3533	1	INPPL1	11	71948719	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	798687	71948719	63057797	1087	138384											
CLPB	81570	broad.mit.edu	37	chr11	72145303	72145303	+	Frame_Shift_Del	DEL	C	C	-													tcgaagcgtcctccctggcgCcccccggtggctgccccacg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:72145302_72145302GC>G	uc001osj.3	-	0	267	c.217_217GC>C	c.(217-219)cgcfs	p.R73fs	CLPB_uc010rqx.2_5'UTR|CLPB_uc010rqy.2_Frame_Shift_Del_p.R73fs|CLPB_uc001osk.3_Frame_Shift_Del_p.R73fs|CLPB_uc010rqz.2_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	73					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						CCTCCCTGGCGCCCCCCGGTG	0.687											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	72145303	C	-	72145303	7	5	273	1	0	1	0	1	0	0	0	0	3551	726	26	0	1975	0	CLPB	11	72145303	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	196584	72145303	62861213	1088	138385											
STARD10	10809	broad.mit.edu	37	chr11	72466074	72466074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccgacagctccgacagCgccaggctcggcaacgggct	13	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:72466074C>T	uc001osy.2	-	7	1035	c.744G>A	c.(742-744)GCG>GCA	p.A248A	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Silent_p.A248A|STARD10_uc001ota.2_Silent_p.A202A|STARD10_uc001otb.2_Silent_p.A248A|ARAP1_uc001osu.2_5'Flank	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	248											0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			GCTCCGACAGCGCCAGGCTCG	0.667													T	72466074	C	T	72466074	2	4	273	1	0	0	0	0	0	0	0	1	15254	755	27	1		1	STARD10	11	72466074	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	320771	72466074	62540442	1089	138386											
STARD10	10809	broad.mit.edu	37	chr11	72469592	72469592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgggatgtttgactgagtAgttcataatgatgtaatcag	11	5	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:72469592A>G	uc001osy.2	-	4	733	c.442T>C	c.(442-444)TAC>CAC	p.Y148H	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.Y148H|STARD10_uc001ota.2_Missense_Mutation_p.Y102H|STARD10_uc001otb.2_Missense_Mutation_p.Y148H	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	148	START.										0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TTGACTGAGTAGTTCATAATG	0.393													G	72469592	A	G	72469592	3	3	273	1	0	0	0	0	1	0	0	0	15254	420	15	3	449	3	STARD10	11	72469592	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3518	72469592	62536924	1090	138387											
RELT	84957	broad.mit.edu	37	chr11	73106249	73106249	+	Frame_Shift_Del	DEL	C	C	-													gactccccacagcctggcctCccccctgagcagcaggccct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:73106249delC	uc001otv.2	+	10	1329	c.1164delC	c.(1162-1164)CTCfs	p.L388fs	RELT_uc001otw.2_Frame_Shift_Del_p.L388fs|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	388	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						AGCCTGGCCTCCCCCCTGAGC	0.612													-	73106249	C	-	73106249	7	5	273	1	0	1	0	1	0	0	0	0	13221	842	30	0	1198	0	RELT	11	73106249	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	636657	73106249	61900267	1091	138388											
C11orf82	220042	broad.mit.edu	37	chr11	82643483	82643483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaaataggtcccagcAtgagctaccatgttttcagc	7	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:82643483A>G	uc001ozt.2	+	6	1347	c.1103A>G	c.(1102-1104)CAT>CGT	p.H368R	C11orf82_uc010rsr.1_Missense_Mutation_p.H67R|C11orf82_uc010rss.1_Missense_Mutation_p.H67R|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	368					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						AGGTCCCAGCATGAGCTACCA	0.413													G	82643483	A	G	82643483	3	3	273	1	0	0	0	0	1	0	0	0	1665	217	8	3	1117	3	C11orf82	11	82643483	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	9537234	82643483	52363033	1092	138389											
EED	8726	broad.mit.edu	37	chr11	85961426	85961427	+	Frame_Shift_Ins	INS	-	-	G													gcacctggaaggaaaagttgINSgggaaagggaaaatggaagt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:85961425_85961426T>TG	uc001pbp.3	+	1	668_669	c.202_203T>TG	c.(202-204)tggfs	p.W68fs	EED_uc010rtm.2_Frame_Shift_Ins_p.W68fs|EED_uc001pbq.3_Frame_Shift_Ins_p.W68fs|EED_uc001pbr.3_Frame_Shift_Ins_p.W68fs	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	68					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)				AAGGAAAAGTTGGGGAAAGGGA	0.401													G	85961427	-	G	85961426	7	5	273	1	0	1	1	0	0	0	0	0	4922	1357	47	0	209	0	EED	11	85961426	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3317943	85961426	49045090	1093	138390											
GRM5	2915	broad.mit.edu	37	chr11	88242557	88242557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggggaagggcttgatgaCggccgtttggttggggtttt	18	5	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:88242557C>T	uc001pcq.2	-	9	3042	c.2842G>A	c.(2842-2844)GTC>ATC	p.V948I	GRM5_uc009yvm.2_Missense_Mutation_p.V916I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	948	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGCTTGATGACGGCCGTTTGG	0.687													T	88242557	C	T	88242557	3	4	273	1	0	0	0	0	1	0	0	0	6800	536	19	1	800	1	GRM5	11	88242557	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2281131	88242557	46763959	1094	138391											
FAT3	120114	broad.mit.edu	37	chr11	92087537	92087537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattaaagcctatgatgcCgactctggcttcaatggaaa	9	8	2	2	rs114589936	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:92087537C>T	uc001pdj.3	+	1	2276	c.2259C>T	c.(2257-2259)GCC>GCT	p.A753A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	753	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTATGATGCCGACTCTGGCT	0.403										TCGA Ovarian(4;0.039)			T	92087537	C	T	92087537	2	4	273	1	0	0	0	0	0	0	0	1	5691	639	23	1		1	FAT3	11	92087537	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3844980	92087537	42918979	1095	138392											
SLC36A4	120103	broad.mit.edu	37	chr11	92899120	92899120	+	Frame_Shift_Del	DEL	A	A	-													aaagcaaatacagcagtaccAaaaaagagtgggtatttctt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:92899120delA	uc001pdn.2	-	8	928	c.831delT	c.(829-831)TTTfs	p.F277fs	SLC36A4_uc001pdm.2_Frame_Shift_Del_p.F142fs	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	277	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCAGTACCAAAAAAGAGTG	0.343													-	92899120	A	-	92899120	7	5	273	1	0	1	0	1	0	0	0	0	14596	127	5	0	699	0	SLC36A4	11	92899120	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	811583	92899120	42107396	1096	138393											
KDM4D	55693	broad.mit.edu	37	chr11	94731056	94731056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtggggttgtcatagaaGgcgtcaatacaccctacttg	11	8	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:94731056G>T	uc001pfe.2	+	3	1352	c.520G>T	c.(520-522)GGC>TGC	p.G174C		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	174	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGTCATAGAAGGCGTCAATAC	0.468													T	94731056	G	T	94731056	3	4	273	1	0	0	0	0	1	0	0	0	8131	1000	35	5	522	5	KDM4D	11	94731056	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1831936	94731056	40275460	1097	138394											
MTMR2	8898	broad.mit.edu	37	chr11	95591764	95591764	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcttgtccgcccctcAggtttatgagcaaatcgtaa	8	11	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:95591764A>G	uc001pfu.2	-	6	754	c.501T>C	c.(499-501)CCT>CCC	p.P167P	MTMR2_uc001pfv.2_Silent_p.P95P|MTMR2_uc001pfs.2_Silent_p.P95P|MTMR2_uc001pft.2_Silent_p.P95P|MTMR2_uc010ruj.1_Silent_p.P150P	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	167						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCGCCCCTCAGGTTTATGAG	0.313													G	95591764	A	G	95591764	2	3	273	1	0	0	0	0	0	0	0	1	9944	175	7	3		3	MTMR2	11	95591764	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	860708	95591764	39414752	1098	138395											
MAML2	84441	broad.mit.edu	37	chr11	95826235	95826235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagttcaaggtcactcatGggaggcacagatatgttggt	12	8	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:95826235G>A	uc001pfw.1	-	2	2245	c.960C>T	c.(958-960)CCC>CCT	p.P320P		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	320					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGTCACTCATGGGAGGCACAG	0.463			T	MECT1|CRTC3	salivary gland mucoepidermoid								A	95826235	G	A	95826235	2	1	273	1	0	0	0	0	0	0	0	1	9206	1335	47	4		4	MAML2	11	95826235	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	234471	95826235	39180281	1099	138396											
CWF19L2	143884	broad.mit.edu	37	chr11	107299981	107299981	+	Frame_Shift_Del	DEL	T	T	-													taaatttttcattattgctaTtttttgcagtatctgttgta							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:107299981delT	uc010rvp.1	-	8	1007	c.977delA	c.(976-978)AATfs	p.N326fs	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	326							catalytic activity				0		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)		ATTATTGCTATTTTTTGCAGT	0.323													-	107299981	T	-	107299981	7	5	273	1	0	1	0	1	0	0	0	0	4072	1493	52	0	1751	0	CWF19L2	11	107299981	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	11473746	107299981	27706535	1100	138397											
ATM	472	broad.mit.edu	37	chr11	108114817	108114817	+	Frame_Shift_Del	DEL	T	T	-													taaattccaaatttttggacTttttttccaaggctattcag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:108114817delT	uc001pkb.1	+	6	1019	c.634delT	c.(634-636)TTTfs	p.F212fs	ATM_uc009yxr.1_Frame_Shift_Del_p.F212fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	212					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		ATTTTTGGACTTTTTTTCCAA	0.338			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)			-	108114817	T	-	108114817	7	5	273	1	0	1	0	1	0	0	0	0	1109	1609	56	0	652	0	ATM	11	108114817	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	814836	108114817	26891699	1101	138398											
PPP2R1B	5519	broad.mit.edu	37	chr11	111631733	111631733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggactccacagccttgtcacGaacaacagtctcttccacag	7	15	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:111631733G>A	uc001plx.1	-	4	433	c.349C>T	c.(349-351)CGT>TGT	p.R117C	PPP2R1B_uc001plw.1_Missense_Mutation_p.R117C|PPP2R1B_uc010rwi.1_Missense_Mutation_p.R53C|PPP2R1B_uc010rwj.1_Intron|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R117C|PPP2R1B_uc010rwl.1_Intron	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	117	HEAT 3.						protein binding				0		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)		GCCTTGTCACGAACAACAGTC	0.443													A	111631733	G	A	111631733	3	1	273	1	0	0	0	0	1	0	0	0	12383	1058	37	1	1727	1	PPP2R1B	11	111631733	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3516916	111631733	23374783	1102	138399											
HTR3A	3359	broad.mit.edu	37	chr11	113853935	113853935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccttcaggtggtgactgcCtgtagcctcgacatctacaa	9	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:113853935C>A	uc010rxb.1	+	5	719	c.486C>A	c.(484-486)GCC>GCA	p.A162A	HTR3A_uc010rxa.1_Silent_p.A162A|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.A141A	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	156	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		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)	TGGTGACTGCCTGTAGCCTCG	0.552													A	113853935	C	A	113853935	2	1	273	1	0	0	0	0	0	0	0	1	7444	668	24	5		5	HTR3A	11	113853935	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2222202	113853935	21152581	1103	138400											
FAM55D	54827	broad.mit.edu	37	chr11	114453198	114453198	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccacattcagagtggacTtgggaagtgccattgacaaa	12	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:114453198T>C	uc001ppc.2	-	3	823	c.642A>G	c.(640-642)CAA>CAG	p.Q214Q	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	214						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CAGAGTGGACTTGGGAAGTGC	0.512													C	114453198	T	C	114453198	2	2	273	1	0	0	0	0	0	0	0	1	5587	1606	56	3		3	FAM55D	11	114453198	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	599263	114453198	20553318	1104	138401											
APOA1	335	broad.mit.edu	37	chr11	116706800	116706800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgtccacatgggcgcgCgcgcggtcgcgcatctcctc	14	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:116706800C>T	uc001ppu.1	-	4	607	c.528G>A	c.(526-528)GCG>GCA	p.A176A	APOA1_uc001ppv.1_Silent_p.A176A	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	176	6.|10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CATGGGCGCGCGCGCGGTCGC	0.711													T	116706800	C	T	116706800	2	4	273	1	0	0	0	0	0	0	0	1	780	755	27	1		1	APOA1	11	116706800	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2253602	116706800	18299716	1105	138402											
PCSK7	9159	broad.mit.edu	37	chr11	117097932	117097932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttgttgggcacagccGcgatctctcctgcacatcgc	11	14	1	0	rs143167780	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:117097932G>A	uc001pqr.2	-	5	911	c.710C>T	c.(709-711)GCG>GTG	p.A237V		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	237	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	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)		GGGCACAGCCGCGATCTCTCC	0.612			T	IGH@	MLCLS								A	117097932	G	A	117097932	3	1	273	1	0	0	0	0	1	0	0	0	11605	1087	38	1	1699	1	PCSK7	11	117097932	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	391132	117097932	17908584	1106	138403											
CEP164	22897	broad.mit.edu	37	chr11	117253535	117253535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggccccaagcccacctgCtgcctgtgagaagggcaagg	14	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:117253535C>T	uc001prc.2	+	14	1748	c.1601C>T	c.(1600-1602)GCT>GTT	p.A534V	CEP164_uc001prb.2_Missense_Mutation_p.A537V|CEP164_uc010rxk.1_Missense_Mutation_p.A508V|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	534	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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)		AGCCCACCTGCTGCCTGTGAG	0.582													T	117253535	C	T	117253535	3	4	273	1	0	0	0	0	1	0	0	0	3249	797	28	2	1647	2	CEP164	11	117253535	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	155603	117253535	17752981	1107	138404											
DSCAML1	57453	broad.mit.edu	37	chr11	117307927	117307927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcagctcgtaccacgtgGcctctcgcagttccgtcaga	11	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:117307927G>A	uc001prh.1	-	26	4813	c.4811C>T	c.(4810-4812)GCC>GTC	p.A1604V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1544	Extracellular (Potential).|Fibronectin type-III 6.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GTACCACGTGGCCTCTCGCAG	0.642													A	117307927	G	A	117307927	3	1	273	1	0	0	0	0	1	0	0	0	4769	1203	42	2	1562	2	DSCAML1	11	117307927	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	54392	117307927	17698589	1108	138405											
ARCN1	372	broad.mit.edu	37	chr11	118452034	118452034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtttgtggaaatgacccGaactcggattgagggcttat	12	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118452034G>A	uc001ptq.2	+	2	238	c.77G>A	c.(76-78)CGA>CAA	p.R26Q	ARCN1_uc009zah.2_Missense_Mutation_p.R26Q|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Missense_Mutation_p.R67Q	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	26					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	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)		GAAATGACCCGAACTCGGATT	0.443													A	118452034	G	A	118452034	3	1	273	1	0	0	0	0	1	0	0	0	842	1058	37	1	83	1	ARCN1	11	118452034	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1144107	118452034	16554482	1109	138406											
ARCN1	372	broad.mit.edu	37	chr11	118454013	118454013	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaatgttaacttggcacaGatcagaaccttcacagaaat	8	8	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118454013G>A	uc001ptq.2	+	3	548	c.387G>A	c.(385-387)CAG>CAA	p.Q129Q	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Silent_p.Q41Q|ARCN1_uc009zag.2_Silent_p.Q170Q	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	129					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	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)		ACTTGGCACAGATCAGAACCT	0.413													A	118454013	G	A	118454013	2	1	273	1	0	0	0	0	0	0	0	1	842	933	33	4		4	ARCN1	11	118454013	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1979	118454013	16552503	1110	138407											
PHLDB1	23187	broad.mit.edu	37	chr11	118498911	118498911	+	Frame_Shift_Del	DEL	C	C	-													tggacagtatgcgagaactaCcccccttaagtccatctctg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118498911delC	uc001ptr.1	+	7	1725	c.1372delC	c.(1372-1374)CCCfs	p.P458fs	PHLDB1_uc001pts.2_Frame_Shift_Del_p.P458fs|PHLDB1_uc001ptt.2_Frame_Shift_Del_p.P458fs|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Frame_Shift_Del_p.P258fs|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	458											0	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)		GCGAGAACTACCCCCCTTAAG	0.642													-	118498911	C	-	118498911	7	5	273	1	0	1	0	1	0	0	0	0	11851	507	18	0	1390	0	PHLDB1	11	118498911	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	44898	118498911	16507605	1111	138408											
BCL9L	283149	broad.mit.edu	37	chr11	118769978	118769978	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgggcactgggccacAgggggcattcagggagtcgg	20	9	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118769978A>G	uc001pug.2	-	8	4611	c.3646T>C	c.(3646-3648)TGT>CGT	p.C1216R	BCL9L_uc009zal.2_Missense_Mutation_p.C1211R	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1216	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			ovary(1)|pancreas(1)	2	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)		ACTGGGCCACAGGGGGCATTC	0.697													G	118769978	A	G	118769978	3	3	273	1	0	0	0	0	1	0	0	0	1382	188	7	3	857	3	BCL9L	11	118769978	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	271067	118769978	16236538	1112	138409											
ARHGEF12	23365	broad.mit.edu	37	chr11	120337927	120337927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgaaagtaatccactgtgtCgtcgtcttcaactgaaggat	9	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:120337927C>A	uc001pxl.1	+	29	2771	c.2764C>A	c.(2764-2766)CGT>AGT	p.R922S	ARHGEF12_uc009zat.2_Missense_Mutation_p.R903S|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R819S|ARHGEF12_uc009zau.1_Missense_Mutation_p.R819S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	922	DH.				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			lung(2)|breast(2)|skin(2)|ovary(1)	7		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)		TCCACTGTGTCGTCGTCTTCA	0.363			T	MLL	AML								A	120337927	C	A	120337927	3	1	273	1	0	0	0	0	1	0	0	0	897	884	31	5	2878	5	ARHGEF12	11	120337927	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1567949	120337927	14668589	1113	138410											
TECTA	7007	broad.mit.edu	37	chr11	121036077	121036077	+	Frame_Shift_Del	DEL	C	C	-													tgtgtggctgcatcgagccaCccccctatggaaatagtgag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:121036077delC	uc010rzo.1	+	16	5368	c.5368delC	c.(5368-5370)CCCfs	p.P1790fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1790					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CATCGAGCCACCCCCCTATGG	0.592													-	121036077	C	-	121036077	7	5	273	1	0	1	0	1	0	0	0	0	15744	507	18	0	5430	0	TECTA	11	121036077	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	698150	121036077	13970439	1114	138411											
OR6T1	219874	broad.mit.edu	37	chr11	123814132	123814132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actagttgggaacagacatgGccattcatcagggtctcata	10	9	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:123814132G>A	uc010sab.1	-	1	414	c.414C>T	c.(412-414)GGC>GGT	p.G138G		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		AACAGACATGGCCATTCATCA	0.567													A	123814132	G	A	123814132	2	1	273	1	0	0	0	0	0	0	0	1	11210	1190	42	2		2	OR6T1	11	123814132	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2778055	123814132	11192384	1115	138412											
STT3A	3703	broad.mit.edu	37	chr11	125475553	125475553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgcatgctactcaccTactacatgtggatcaaggca	7	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:125475553T>C	uc001qcd.2	+	7	648	c.538T>C	c.(538-540)TAC>CAC	p.Y180H	STT3A_uc009zbm.2_Missense_Mutation_p.Y180H|STT3A_uc001qce.2_Missense_Mutation_p.Y180H|STT3A_uc010sbg.1_Missense_Mutation_p.Y88H|STT3A_uc009zbn.2_5'Flank	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	180	Helical; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCTACTCACCTACTACATGTG	0.373													C	125475553	T	C	125475553	3	2	273	1	0	0	0	0	1	0	0	0	15332	1522	53	3	560	3	STT3A	11	125475553	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1661421	125475553	9530963	1116	138413											
C11orf45	219833	broad.mit.edu	37	chr11	128774403	128774403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctgatggcagcgtgcGtccagggcggagaggtcgtg	18	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:128774403G>A	uc001qeu.2	-	2	253	c.59C>T	c.(58-60)ACG>ATG	p.T20M	KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.T20M|C11orf45_uc001qev.2_Missense_Mutation_p.T20M	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	hypothetical protein LOC219833 precursor	20						extracellular region					0	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		ggcagcgtgcgtccagggcgg	0.144													A	128774403	G	A	128774403	3	1	273	1	0	0	0	0	1	0	0	0	1642	1145	40	1	390	1	C11orf45	11	128774403	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3298850	128774403	6232113	1117	138414											
KCNJ5	3762	broad.mit.edu	37	chr11	128781493	128781493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttcggcttcatttggTggctcattgcttatatccgg	10	9	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:128781493T>C	uc001qet.2	+	2	639	c.325T>C	c.(325-327)TGG>CGG	p.W109R	KCNJ5_uc009zck.2_Missense_Mutation_p.W109R|KCNJ5_uc001qew.2_Missense_Mutation_p.W109R	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	109	Helical; Name=M1; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	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)	CTTCATTTGGTGGCTCATTGC	0.522													C	128781493	T	C	128781493	3	2	273	1	0	0	0	0	1	0	0	0	8054	1696	59	3	327	3	KCNJ5	11	128781493	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	7090	128781493	6225023	1118	138415											
KCNJ5	3762	broad.mit.edu	37	chr11	128781633	128781633	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accattgggtatggcttccgAgtcatcacagagaagtgtcc	11	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:128781633A>G	uc001qet.2	+	2	779	c.465A>G	c.(463-465)CGA>CGG	p.R155R	KCNJ5_uc009zck.2_Silent_p.R155R|KCNJ5_uc001qew.2_Silent_p.R155R	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	155	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	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)	ATGGCTTCCGAGTCATCACAG	0.517													G	128781633	A	G	128781633	2	3	273	1	0	0	0	0	0	0	0	1	8054	291	11	3		3	KCNJ5	11	128781633	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	140	128781633	6224883	1119	138416											
ADAMTS8	11095	broad.mit.edu	37	chr11	130278728	130278728	+	Frame_Shift_Del	DEL	G	G	-													gaacaacttgcagcggtcccGgggggacaccccagcatact							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:130278727_130278727CG>C	uc001qgg.4	-	6	2217	c.1859_1859CG>G	c.(1858-1860)cggfs	p.R620fs	ADAMTS8_uc001qgf.3_Frame_Shift_Del_p.R101fs	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	620	Cys-rich.				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)		GCAGCGGTCCCGGGGGGACAC	0.572													-	130278728	G	-	130278728	7	5	273	1	0	1	0	1	0	0	0	0	272	1115	39	0	823	0	ADAMTS8	11	130278728	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1497095	130278728	4727788	1120	138417											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341187	130341187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggctgtgatgggaacCtgggctccaagaagagattc	15	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:130341187C>T	uc010scd.1	+	7	1987	c.1987C>T	c.(1987-1989)CTG>TTG	p.L663L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	663	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	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)		TGATGGGAACCTGGGCTCCAA	0.567													T	130341187	C	T	130341187	2	4	273	1	0	0	0	0	0	0	0	1	260	680	24	4		4	ADAMTS15	11	130341187	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	62459	130341187	4665329	1121	138418											
SLC6A13	6540	broad.mit.edu	37	chr12	344273	344273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggggatcccacagacGcgtgaggtttgggtacaggt	15	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:344273G>A	uc001qic.1	-	7	867	c.814C>T	c.(814-816)CGT>TGT	p.R272C	SLC6A13_uc009zdj.1_Missense_Mutation_p.R272C|SLC6A13_uc010sdl.1_Missense_Mutation_p.R180C|SLC6A13_uc010sdm.1_Missense_Mutation_p.R153C	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	272					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	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)			TCCCACAGACGCGTGAGGTTT	0.567													A	344273	G	A	344273	3	1	273	1	0	0	0	0	1	0	0	0	14676	1087	38	1	1030	1	SLC6A13	12	344273	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		344273	133507622	1122	138419											
CACNA2D4	93589	broad.mit.edu	37	chr12	1987496	1987496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccaggggccggaggtcGggatgggagaggatgtagcc	19	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:1987496G>A	uc001qjp.2	-	16	1935	c.1704C>T	c.(1702-1704)CCC>CCT	p.P568P	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.P456P	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	568	Cache.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	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)		GCCGGAGGTCGGGATGGGAGA	0.488													A	1987496	G	A	1987496	2	1	273	1	0	0	0	0	0	0	0	1	2551	1103	39	1		1	CACNA2D4	12	1987496	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1643223	1987496	131864399	1123	138420											
CACNA1C	775	broad.mit.edu	37	chr12	2786947	2786947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgagatccgacgggccAtctctggagatctcaccgct	12	14	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:2786947A>G	uc009zdu.1	+	43	5462	c.5149A>G	c.(5149-5151)ATC>GTC	p.I1717V	CACNA1C_uc009zdv.1_Missense_Mutation_p.I1666V|CACNA1C_uc001qkb.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkc.2_Missense_Mutation_p.I1688V|CACNA1C_uc001qke.2_Missense_Mutation_p.I1658V|CACNA1C_uc001qkf.2_Missense_Mutation_p.I1677V|CACNA1C_uc001qjz.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkd.2_Missense_Mutation_p.I1688V|CACNA1C_uc001qkg.2_Missense_Mutation_p.I1675V|CACNA1C_uc009zdw.1_Missense_Mutation_p.I1710V|CACNA1C_uc001qkh.2_Missense_Mutation_p.I1677V|CACNA1C_uc001qkl.2_Missense_Mutation_p.I1717V|CACNA1C_uc001qkn.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qko.2_Missense_Mutation_p.I1689V|CACNA1C_uc001qkp.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkr.2_Missense_Mutation_p.I1686V|CACNA1C_uc001qku.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkq.2_Missense_Mutation_p.I1697V|CACNA1C_uc001qks.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkt.2_Missense_Mutation_p.I1688V|CACNA1C_uc001qki.1_Missense_Mutation_p.I1405V|CACNA1C_uc001qkj.1_Missense_Mutation_p.I1405V|CACNA1C_uc001qkk.1_Missense_Mutation_p.I1405V|CACNA1C_uc001qkm.1_Missense_Mutation_p.I1394V|CACNA1C_uc010sea.1_Missense_Mutation_p.I360V|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1717	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	CCGACGGGCCATCTCTGGAGA	0.597													G	2786947	A	G	2786947	3	3	273	1	0	0	0	0	1	0	0	0	2540	217	8	3	5550	3	CACNA1C	12	2786947	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	799451	2786947	131064948	1124	138421											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:3649787T>C	uc001qmf.2	+	2	458	c.91T>C	c.(91-93)TCC>CCC	p.S31P	PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	31	SH3-binding 1.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													C	3649787	T	C	3649787	3	2	273	1	0	0	0	0	1	0	0	0	12542	1551	54	3	97	3	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	862840	3649787	130202108	1125	138422											
PRMT8	56341	broad.mit.edu	37	chr12	3701471	3701471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcactgtccggagggggGaggaaatctacgggaccata	14	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:3701471G>A	uc001qmf.2	+	9	1421	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K	PRMT8_uc009zed.2_Missense_Mutation_p.E343K|PRMT8_uc001qmg.2_Missense_Mutation_p.E166K|PRMT8_uc001qmh.2_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	352					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			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCGGAGGGGGGAGGAAATCTA	0.552													A	3701471	G	A	3701471	3	1	273	1	0	0	0	0	1	0	0	0	12542	1175	41	4	1088	4	PRMT8	12	3701471	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	51684	3701471	130150424	1126	138423											
KCNA1	3736	broad.mit.edu	37	chr12	5020592	5020592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggcttcggccgccccGggccacccccaggatggcag	15	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:5020592G>A	uc001qnh.2	+	2	1153	c.48G>A	c.(46-48)CCG>CCA	p.P16P		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	16					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGCCGCCCCGGGCCACCCCC	0.706													A	5020592	G	A	5020592	2	1	273	1	0	0	0	0	0	0	0	1	8001	1103	39	1		1	KCNA1	12	5020592	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1319121	5020592	128831303	1127	138424											
KCNA1	3736	broad.mit.edu	37	chr12	5021140	5021140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatgacaaggacttcaCgggcaccgtccaccgcatcg	12	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:5021140C>T	uc001qnh.2	+	2	1701	c.596C>T	c.(595-597)ACG>ATG	p.T199M		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	199					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGGACTTCACGGGCACCGTC	0.542													T	5021140	C	T	5021140	3	4	273	1	0	0	0	0	1	0	0	0	8001	536	19	1	598	1	KCNA1	12	5021140	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	548	5021140	128830755	1128	138425											
KCNA1	3736	broad.mit.edu	37	chr12	5021284	5021284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgcctgccccagcaagaCggacttcttcaaaaacatca	6	15	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:5021284C>T	uc001qnh.2	+	2	1845	c.740C>T	c.(739-741)ACG>ATG	p.T247M		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	247					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCAGCAAGACGGACTTCTTC	0.498													T	5021284	C	T	5021284	3	4	273	1	0	0	0	0	1	0	0	0	8001	536	19	1	742	1	KCNA1	12	5021284	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	144	5021284	128830611	1129	138426											
VWF	7450	broad.mit.edu	37	chr12	6101113	6101113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtccccacaggagctcaCgttgccatcacagtgccggg	12	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6101113C>T	uc001qnn.1	-	38	6920	c.6670G>A	c.(6670-6672)GTG>ATG	p.V2224M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2224	E2.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CAGGAGCTCACGTTGCCATCA	0.557													T	6101113	C	T	6101113	3	4	273	1	0	0	0	0	1	0	0	0	17243	536	19	1	1831	1	VWF	12	6101113	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1079829	6101113	127750782	1130	138427											
CHD4	1108	broad.mit.edu	37	chr12	6701093	6701093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacataccattgcagccaCagggaagaggtatggatggt	12	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6701093C>T	uc001qpo.2	-	20	3243	c.3079G>A	c.(3079-3081)GTG>ATG	p.V1027M	CHD4_uc001qpn.2_Missense_Mutation_p.V1020M|CHD4_uc001qpp.2_Missense_Mutation_p.V1024M	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1027					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						ATTGCAGCCACAGGGAAGAGG	0.473													T	6701093	C	T	6701093	3	4	273	1	0	0	0	0	1	0	0	0	3327	478	17	4	2743	4	CHD4	12	6701093	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	599980	6701093	127150802	1131	138428											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	273	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	222950	6924043	126927852	1132	138429											
LEPREL2	10536	broad.mit.edu	37	chr12	6946910	6946910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctaggagagcaagagcagCgcatggacctgagtcaccca	12	12	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6946910C>T	uc001qra.1	+	14	1760	c.1726C>T	c.(1726-1728)CGC>TGC	p.R576C	LEPREL2_uc001qqz.1_Missense_Mutation_p.R383C|LEPREL2_uc001qrb.1_Missense_Mutation_p.R383C|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	576	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum	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				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCAAGAGCAGCGCATGGACCT	0.652													T	6946910	C	T	6946910	3	4	273	1	0	0	0	0	1	0	0	0	8731	768	27	1	1771	1	LEPREL2	12	6946910	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	22867	6946910	126904985	1133	138430											
USP5	8078	broad.mit.edu	37	chr12	6970756	6970756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacttctggagcacggccCtgcaggccaagtcagtagct	12	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6970756C>A	uc001qri.3	+	13	1707	c.1648C>A	c.(1648-1650)CTG>ATG	p.L550M	USP5_uc001qrh.3_Missense_Mutation_p.L550M	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	550					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						GAGCACGGCCCTGCAGGCCAA	0.612													A	6970756	C	A	6970756	3	1	273	1	0	0	0	0	1	0	0	0	17078	680	24	5	1698	5	USP5	12	6970756	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	23846	6970756	126881139	1134	138431											
A2ML1	144568	broad.mit.edu	37	chr12	8998751	8998751	+	Frame_Shift_Del	DEL	T	T	-													ttccctggtgatctatgccaTttttcccagtggaggtgttg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:8998751delT	uc001quz.3	+	14	1714	c.1616delT	c.(1615-1617)ATTfs	p.I539fs	A2ML1_uc001qva.1_Frame_Shift_Del_p.I119fs|A2ML1_uc010sgm.1_Frame_Shift_Del_p.I39fs	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	383						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ATCTATGCCATTTTTCCCAGT	0.453													-	8998751	T	-	8998751	7	5	273	1	0	1	0	1	0	0	0	0	5	1493	52	0	1670	0	A2ML1	12	8998751	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	2027995	8998751	124853144	1135	138432											
KLRG1	10219	broad.mit.edu	37	chr12	9142308	9142309	+	Frame_Shift_Ins	INS	-	-	A													aatgactatggaccacagcaINSaaaatgtgagttaaccaagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:9142307_9142308C>CA	uc001qvh.3	+	0	87_88	c.76_77C>CA	c.(76-78)caafs	p.Q26fs	KLRG1_uc001qvg.3_Frame_Shift_Ins_p.Q26fs	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	26					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TGGACCACAGCAAAAATGTGAG	0.431													A	9142309	-	A	9142308	7	5	273	1	0	1	1	0	0	0	0	0	8421	130	5	0	79	0	KLRG1	12	9142308	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	143557	9142308	124709587	1136	138433											
CD69	969	broad.mit.edu	37	chr12	9907761	9907761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtagaaataaagtagcatTtcctctggtagccaacccag	8	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:9907761T>C	uc001qwk.2	-	3	365	c.284A>G	c.(283-285)AAA>AGA	p.K95R	CD69_uc010sgu.1_Missense_Mutation_p.K95R|CD69_uc010sgv.1_Missense_Mutation_p.K95R	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	95	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AAAGTAGCATTTCCTCTGGTA	0.453													C	9907761	T	C	9907761	3	2	273	1	0	0	0	0	1	0	0	0	3031	1841	64	3	327	3	CD69	12	9907761	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	765453	9907761	123944134	1137	138434											
LOH12CR1	118426	broad.mit.edu	37	chr12	12618642	12618642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctggacaggctcaacAgcatgctgcccgagggcgag	14	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:12618642A>C	uc001ral.2	+	4	889	c.523A>C	c.(523-525)AGC>CGC	p.S175R	LOH12CR1_uc009zhu.2_Missense_Mutation_p.S127R	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	175										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAGGCTCAACAGCATGCTGCC	0.657													C	12618642	A	C	12618642	3	2	273	1	0	0	0	0	1	0	0	0	8891	188	7	5	537	5	LOH12CR1	12	12618642	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2710881	12618642	121233253	1138	138435											
DDX47	51202	broad.mit.edu	37	chr12	12976903	12976903	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaacagctttgctactgCgaaatcttggcttcactgcc	9	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:12976903C>T	uc001rav.2	+	11	1448	c.850C>T	c.(850-852)CGA>TGA	p.R284*	DDX47_uc009zhw.1_Nonsense_Mutation_p.R284*|DDX47_uc001rax.2_Nonsense_Mutation_p.R284*|DDX47_uc001ray.2_Intron	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	284	Helicase C-terminal.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTTGCTACTGCGAAATCTTGG	0.443													T	12976903	C	T	12976903	4	4	273	1	0	0	0	0	0	1	0	0	4365	760	27	1	880	1	DDX47	12	12976903	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	358261	12976903	120874992	1139	138436											
WBP11	51729	broad.mit.edu	37	chr12	14952595	14952595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccaatttctccatgtctCggattatctgttttggatcc	6	11	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:14952595C>T	uc001rci.2	-	4	325	c.164G>A	c.(163-165)CGA>CAA	p.R55Q		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	55					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						CTCCATGTCTCGGATTATCTG	0.408													T	14952595	C	T	14952595	3	4	273	1	0	0	0	0	1	0	0	0	17255	884	31	1	1797	1	WBP11	12	14952595	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1975692	14952595	118899300	1140	138437											
C12orf72	254013	broad.mit.edu	37	chr12	31819052	31819052	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataatcctgatgttgtcagaGgaaaatctgtattagatctt	8	5	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:31819052G>T	uc009zjr.2	+	3	555	c.346G>T	c.(346-348)GGA>TGA	p.G116*	C12orf72_uc001rkl.2_Nonsense_Mutation_p.G116*|C12orf72_uc001rkm.2_Nonsense_Mutation_p.G116*	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	116						cytoplasm	protein methyltransferase activity				0						TGTTGTCAGAGGAAAATCTGT	0.358													T	31819052	G	T	31819052	4	4	273	1	0	0	0	0	0	1	0	0	1713	1001	35	5	352	5	C12orf72	12	31819052	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	16866457	31819052	102032843	1141	138438											
BICD1	636	broad.mit.edu	37	chr12	32480462	32480463	+	Frame_Shift_Ins	INS	-	-	G													acacagctggaacacaccaaINSgggggcactgacggagcagc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:32480462_32480463insG	uc001rku.2	+	5	1154_1155	c.1073_1074insG	c.(1072-1074)AAGfs	p.K358fs	BICD1_uc001rkv.2_Frame_Shift_Ins_p.K358fs|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	358	Potential.				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			large_intestine(1)|central_nervous_system(1)	2	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)			GAACACACCAAGGGGGCACTGA	0.559													G	32480463	-	G	32480462	7	5	273	1	0	1	1	0	0	0	0	0	1428	72	3	0	1091	0	BICD1	12	32480462	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	661410	32480462	101371433	1142	138439	733	2									
BICD1	636	broad.mit.edu	37	chr12	32480463	32480464	+	Frame_Shift_Ins	INS	-	-	G													cacagctggaacacaccaagINSggggcactgacggagcagca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:32480462_32480463A>AG	uc001rku.3	+	4	1154_1155	c.1073_1074A>AG	c.(1072-1074)aagfs	p.K358fs	BICD1_uc001rkv.3_Frame_Shift_Ins_p.K358fs|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	358					RNA processing|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|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor 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)			GAACACACCAAGGGGGCACTGA	0.559													G	32480464	-	G	32480463	7	5	273	1	0	1	1	0	0	0	0	0	1428	991	35	0	1092	0	BICD1	12	32480463	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	32480463	101371432	1143	138440	733	2									
PKP2	5318	broad.mit.edu	37	chr12	32945632	32945632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaatacagaaggacGgaagcagctttacttgcttt	10	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:32945632G>A	uc001rlj.3	-	13	2638	c.2523C>T	c.(2521-2523)TCC>TCT	p.S841S	PKP2_uc001rlk.3_Silent_p.S797S|PKP2_uc010skj.1_Silent_p.S794S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	841	ARM 8.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGAAGGACGGAAGCAGCTT	0.473													A	32945632	G	A	32945632	2	1	273	1	0	0	0	0	0	0	0	1	11985	1103	39	1		1	PKP2	12	32945632	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	465169	32945632	100906263	1144	138441											
PKP2	5318	broad.mit.edu	37	chr12	33030914	33030914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcccagcttccctcagCgtgcgggtgctgtggaagga	16	12	1	0	rs140235564		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:33030914C>T	uc001rlj.3	-	3	1015	c.900G>A	c.(898-900)ACG>ACA	p.T300T	PKP2_uc001rlk.3_Silent_p.T300T|PKP2_uc010skj.1_Silent_p.T300T	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	300					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTCCCTCAGCGTGCGGGTGC	0.672													T	33030914	C	T	33030914	2	4	273	1	0	0	0	0	0	0	0	1	11985	755	27	1		1	PKP2	12	33030914	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	85282	33030914	100820981	1145	138442											
SLC38A1	81539	broad.mit.edu	37	chr12	46598325	46598325	+	Frame_Shift_Del	DEL	A	A	-													cagcacttaccacaattaggAaaaaaaccatacagctcaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:46598324_46598324GA>G	uc009zkj.1	-	9	1381	c.696_696TC>C	c.(694-696)ttcfs	p.F232fs	SLC38A1_uc001rpb.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc001rpc.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc001rpd.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc001rpe.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc010slh.2_Frame_Shift_Del_p.F205fs|SLC38A1_uc001rpa.3_Frame_Shift_Del_p.F232fs	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	232					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)			CCACAATTAGGAAAAAAACCA	0.289													-	46598325	A	-	46598325	7	5	273	1	0	1	0	1	0	0	0	0	14601	246	9	0	800	0	SLC38A1	12	46598325	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	13567411	46598325	87253570	1146	138443											
SLC48A1	55652	broad.mit.edu	37	chr12	48174056	48174056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgacatcagcatcctcagcGatttctgacccagggggtga	11	12	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:48174056G>A	uc001rqd.2	+	3	554	c.433G>A	c.(433-435)GAT>AAT	p.D145N	SLC48A1_uc001rqc.2_RNA	NM_017842	NP_060312	Q6P1K1	HRG1_HUMAN	heme-responsive gene 1	145					transport	endosome membrane|integral to membrane|lysosomal membrane					0						CATCCTCAGCGATTTCTGACC	0.607													A	48174056	G	A	48174056	3	1	273	1	0	0	0	0	1	0	0	0	14649	1058	37	1	443	1	SLC48A1	12	48174056	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1575731	48174056	85677839	1147	138444											
C12orf68	387856	broad.mit.edu	37	chr12	48578233	48578233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtcggcggcaaggggAgcttccagagcgacccccaa	16	13	0	1	rs146722647	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:48578233A>G	uc001rrj.2	+	1	868	c.328A>G	c.(328-330)AGC>GGC	p.S110G		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	hypothetical protein LOC387856	110						cytoplasm				central_nervous_system(1)	1						CGGCAAGGGGAGCTTCCAGAG	0.607													G	48578233	A	G	48578233	3	3	273	1	0	0	0	0	1	0	0	0	1710	304	11	3	330	3	C12orf68	12	48578233	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	404177	48578233	85273662	1148	138445											
ADCY6	112	broad.mit.edu	37	chr12	49170050	49170050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgctccttgaggtacGcgttgcgctcgccaccacgg	13	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49170050G>T	uc001rsh.3	-	7	2279	c.1619C>A	c.(1618-1620)GCG>GAG	p.A540E	ADCY6_uc001rsj.3_Missense_Mutation_p.A540E|ADCY6_uc001rsi.3_Missense_Mutation_p.A540E|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	540	Cytoplasmic (Potential).				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	ATP binding|metal ion binding				0						CTTGAGGTACGCGTTGCGCTC	0.632													T	49170050	G	T	49170050	3	4	273	1	0	0	0	0	1	0	0	0	298	1087	38	5	1947	5	ADCY6	12	49170050	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	591817	49170050	84681845	1149	138446											
CCDC65	85478	broad.mit.edu	37	chr12	49312165	49312165	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacactgatgccacagaggaTcgaaaggctgcctttgagac	11	10	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49312165T>C	uc001rso.2	+	5	944	c.717T>C	c.(715-717)GAT>GAC	p.D239D		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	239										ovary(1)|skin(1)	2						CCACAGAGGATCGAAAGGCTG	0.433													C	49312165	T	C	49312165	2	2	273	1	0	0	0	0	0	0	0	1	2837	1432	50	3		3	CCDC65	12	49312165	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	142115	49312165	84539730	1150	138447											
MLL2	8085	broad.mit.edu	37	chr12	49426313	49426313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctcctggttcagtggCcattgactcaggggtagttc	11	11	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49426313C>T	uc001rta.3	-	39	12175	c.12175G>A	c.(12175-12177)GCC>ACC	p.A4059T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4059	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGTTCAGTGGCCATTGACTCA	0.488			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49426313	C	T	49426313	3	4	273	1	0	0	0	0	1	0	0	0	9621	739	26	2	4502	2	MLL2	12	49426313	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	114148	49426313	84425582	1151	138448											
SPATS2	65244	broad.mit.edu	37	chr12	49883337	49883337	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataactgtgtggacaaaacAgtacaagcattcatggaagg	11	6	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49883337A>G	uc001rud.2	+	5	1184	c.195A>G	c.(193-195)ACA>ACG	p.T65T	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Silent_p.T65T|SPATS2_uc001ruf.2_Silent_p.T65T|SPATS2_uc001rug.2_Silent_p.T65T	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	65						cytoplasm				breast(1)	1						TGGACAAAACAGTACAAGCAT	0.318													G	49883337	A	G	49883337	2	3	273	1	0	0	0	0	0	0	0	1	15018	175	7	3		3	SPATS2	12	49883337	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	457024	49883337	83968558	1152	138449											
FAM186B	84070	broad.mit.edu	37	chr12	49993393	49993393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaactcagactcctcaCtcaggagctgcaggttcttc	8	15	5	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49993393C>T	uc001ruo.2	-	4	2203	c.2030G>A	c.(2029-2031)AGT>AAT	p.S677N	FAM186B_uc010smk.1_Missense_Mutation_p.S587N	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	677						protein complex				ovary(1)	1						AGACTCCTCACTCAGGAGCTG	0.577													T	49993393	C	T	49993393	3	4	273	1	0	0	0	0	1	0	0	0	5512	565	20	4	667	4	FAM186B	12	49993393	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	110056	49993393	83858502	1153	138450											
LETMD1	25875	broad.mit.edu	37	chr12	51442948	51442948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcccccgcttctatgtccTgtacacaatcttcatgaaag	5	13	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:51442948T>C	uc001rxm.2	+	2	310	c.254T>C	c.(253-255)CTG>CCG	p.L85P	LETMD1_uc010smz.1_Missense_Mutation_p.L85P|LETMD1_uc010sna.1_Missense_Mutation_p.L85P|LETMD1_uc001rxl.2_Missense_Mutation_p.L29P|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Missense_Mutation_p.L85P|LETMD1_uc009zlw.2_Missense_Mutation_p.L85P|LETMD1_uc001rxn.2_5'UTR|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Missense_Mutation_p.L85P|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_5'UTR	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	85	Cytoplasmic (Potential).|LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						TTCTATGTCCTGTACACAATC	0.398													C	51442948	T	C	51442948	3	2	273	1	0	0	0	0	1	0	0	0	8736	1580	55	3	260	3	LETMD1	12	51442948	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1449555	51442948	82408947	1154	138451											
TFCP2	7024	broad.mit.edu	37	chr12	51566196	51566196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaggcagcttcagagCccaggccatcctggctcctt	12	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:51566196C>T	uc001rxw.2	-	1	469	c.10G>A	c.(10-12)GCT>ACT	p.A4T	TFCP2_uc001rxv.1_Missense_Mutation_p.A4T|TFCP2_uc009zlx.1_Missense_Mutation_p.A4T|TFCP2_uc001rxx.2_Missense_Mutation_p.A4T|TFCP2_uc009zly.1_Intron	NM_005653	NP_005644	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			ovary(1)	1						AGCTTCAGAGCCCAGGCCATC	0.577													T	51566196	C	T	51566196	3	4	273	1	0	0	0	0	1	0	0	0	15792	739	26	2	1558	2	TFCP2	12	51566196	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	123248	51566196	82285699	1155	138452											
BIN2	51411	broad.mit.edu	37	chr12	51686058	51686058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtagagggactagtagGtgaggtaagaggactggaga	18	2	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:51686058G>A	uc001ryg.2	-	10	884	c.832C>T	c.(832-834)CCT>TCT	p.P278S	BIN2_uc009zlz.2_Missense_Mutation_p.P246S|BIN2_uc001ryh.2_Missense_Mutation_p.P154S|BIN2_uc010sng.1_Missense_Mutation_p.P252S	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	278						cytoplasm	protein binding			ovary(1)	1						GGACTAGTAGGTGAGGTAAGA	0.483													A	51686058	G	A	51686058	3	1	273	1	0	0	0	0	1	0	0	0	1433	1261	44	4	881	4	BIN2	12	51686058	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	119862	51686058	82165837	1156	138453											
ANKRD33	341405	broad.mit.edu	37	chr12	52282939	52282939	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgtgaaccagcaggAcaaaggaggggacacggccc	14	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:52282939A>C	uc001rzf.3	+	3	659	c.80A>C	c.(79-81)GAC>GCC	p.D27A	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.D162A|ANKRD33_uc001rze.2_Missense_Mutation_p.D27A|ANKRD33_uc001rzg.3_Intron|ANKRD33_uc001rzi.3_Missense_Mutation_p.D27A	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	27											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACCAGCAGGACAAAGGAGGG	0.612													C	52282939	A	C	52282939	3	2	273	1	0	0	0	0	1	0	0	0	661	275	10	5	495	5	ANKRD33	12	52282939	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	596881	52282939	81568956	1157	138454											
CSAD	51380	broad.mit.edu	37	chr12	53554063	53554063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgtcctgctggaaaAggtagctggcctgggaccca	13	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:53554063A>C	uc001sby.2	-	13	1133	c.1007T>G	c.(1006-1008)CTT>CGT	p.L336R	CSAD_uc001sbw.2_Missense_Mutation_p.L189R|CSAD_uc009zmt.2_Missense_Mutation_p.L118R|CSAD_uc010snx.1_Missense_Mutation_p.L363R|CSAD_uc001sbz.2_Missense_Mutation_p.L336R|CSAD_uc009zmu.2_Missense_Mutation_p.L189R|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	336					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGCTGGAAAAGGTAGCTGGC	0.602									Hereditary_Prostate_Cancer				C	53554063	A	C	53554063	3	2	273	1	0	0	0	0	1	0	0	0	3925	72	3	5	490	5	CSAD	12	53554063	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1271124	53554063	80297832	1158	138455											
MAP3K12	7786	broad.mit.edu	37	chr12	53878989	53878989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagttcccatagcaccacGccaaaggacctagggatgag	11	12	0	1	rs142538656		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:53878989G>A	uc001sdm.1	-	7	989	c.891C>T	c.(889-891)GGC>GGT	p.G297G	MAP3K12_uc001sdn.1_Silent_p.G330G	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	297	Protein kinase.				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			lung(2)|ovary(1)|breast(1)|skin(1)	5						ATAGCACCACGCCAAAGGACC	0.557													A	53878989	G	A	53878989	2	1	273	1	0	0	0	0	0	0	0	1	9246	1074	38	1		1	MAP3K12	12	53878989	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	324926	53878989	79972906	1159	138456											
HOXC10	3226	broad.mit.edu	37	chr12	54379554	54379554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttctggggccaacgacttcGaagcccctttcgagcagcgg	13	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54379554G>A	uc001sen.2	+	1	609	c.511G>A	c.(511-513)GAA>AAA	p.E171K		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	171					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1						CAACGACTTCGAAGCCCCTTT	0.652													A	54379554	G	A	54379554	3	1	273	1	0	0	0	0	1	0	0	0	7309	1059	37	1	513	1	HOXC10	12	54379554	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	500565	54379554	79472341	1160	138457											
HOXC5	3222	broad.mit.edu	37	chr12	54426994	54426994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgggaactatggatcgGcctcagaggtgcaggcatcc	14	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54426994G>A	uc001sew.2	+	1	163	c.88G>A	c.(88-90)GCC>ACC	p.A30T	HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	30					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTATGGATCGGCCTCAGAGGT	0.547													A	54426994	G	A	54426994	3	1	273	1	0	0	0	0	1	0	0	0	7314	1203	42	2	90	2	HOXC5	12	54426994	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	47440	54426994	79424901	1161	138458											
HOXC4	3221	broad.mit.edu	37	chr12	54448771	54448771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcgagatcgcccactcgCtgtgcctctctgagaggcag	13	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54448771C>T	uc001seu.2	+	4	1257	c.577C>T	c.(577-579)CTG>TTG	p.L193L	HOXC4_uc001sex.2_Silent_p.L193L	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	193	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCCCACTCGCTGTGCCTCTC	0.527													T	54448771	C	T	54448771	2	4	273	1	0	0	0	0	0	0	0	1	7313	796	28	2		2	HOXC4	12	54448771	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	21777	54448771	79403124	1162	138459											
NCKAP1L	3071	broad.mit.edu	37	chr12	54893228	54893228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacaagaaatttcccaaCatagatgtccgaaacagcac	5	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54893228C>T	uc001sgc.3	+	2	271	c.192C>T	c.(190-192)AAC>AAT	p.N64N	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.N14N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	64					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			ovary(3)|central_nervous_system(1)	4						AATTTCCCAACATAGATGTCC	0.423													T	54893228	C	T	54893228	2	4	273	1	0	0	0	0	0	0	0	1	10222	477	17	4		4	NCKAP1L	12	54893228	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	444457	54893228	78958667	1163	138460											
OR6C65	403282	broad.mit.edu	37	chr12	55795200	55795200	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaaccagcaggtgaaAcaggcccttagggaattcac	10	9	1	2	rs143868119		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:55795200A>G	uc010spl.1	+	1	888	c.888A>G	c.(886-888)AAA>AAG	p.K296K		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCAGGTGAAACAGGCCCTTA	0.358													G	55795200	A	G	55795200	2	3	273	1	0	0	0	0	0	0	0	1	11195	40	2	3		3	OR6C65	12	55795200	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	901972	55795200	78056695	1164	138461											
ITGA7	3679	broad.mit.edu	37	chr12	56092301	56092301	+	Frame_Shift_Del	DEL	C	C	-													tcaagtacacatacacagcaCcccccagctcttcttggcgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56092300_56092300AC>A	uc001shh.3	-	6	1291	c.1071_1071GT>T	c.(1069-1071)ggtfs	p.G357fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.G353fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.G260fs|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Frame_Shift_Del_p.G240fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	397					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						CATACACAGCACCCCCCAGCT	0.607													-	56092301	C	-	56092301	7	5	273	1	0	1	0	1	0	0	0	0	7881	507	18	0	2431	0	ITGA7	12	56092301	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	297101	56092301	77759594	1165	138462											
RAB5B	5869	broad.mit.edu	37	chr12	56384490	56384490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcccgagcaaagacaTgggtgaaggaactacagcga	12	10	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56384490T>C	uc001siv.2	+	4	457	c.340T>C	c.(340-342)TGG>CGG	p.W114R	RAB5B_uc001siw.2_Missense_Mutation_p.W114R|RAB5B_uc009zog.2_Missense_Mutation_p.W54R|RAB5B_uc010spz.1_Intron	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	114					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AGCAAAGACATGGGTGAAGGA	0.473													C	56384490	T	C	56384490	3	2	273	1	0	0	0	0	1	0	0	0	12949	1464	51	3	350	3	RAB5B	12	56384490	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	292189	56384490	77467405	1166	138463											
IKZF4	64375	broad.mit.edu	37	chr12	56428548	56428548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctcagaactcacgccTgtcatcagctctgtctacac	6	15	6	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56428548T>C	uc001sjb.1	+	9	1350	c.1191T>C	c.(1189-1191)CCT>CCC	p.P397P	IKZF4_uc010sqa.1_Silent_p.P350P|IKZF4_uc001sjc.1_Silent_p.P397P|IKZF4_uc001sjd.1_Silent_p.P295P|IKZF4_uc009zoi.1_Silent_p.P352P|IKZF4_uc001sje.1_Silent_p.P356P	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	397					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACTCACGCCTGTCATCAGCT	0.602													C	56428548	T	C	56428548	2	2	273	1	0	0	0	0	0	0	0	1	7617	1567	55	3		3	IKZF4	12	56428548	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	44058	56428548	77423347	1167	138464											
PAN2	9924	broad.mit.edu	37	chr12	56722284	56722284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatataatgaggcccccacGggccatatacttgaggttgt	10	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56722284G>A	uc001skx.2	-	3	797	c.424C>T	c.(424-426)CGT>TGT	p.R142C	PAN2_uc001skz.2_Missense_Mutation_p.R142C|PAN2_uc001sky.2_Missense_Mutation_p.R142C	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	142					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			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AGGCCCCCACGGGCCATATAC	0.488													A	56722284	G	A	56722284	3	1	273	1	0	0	0	0	1	0	0	0	11414	1116	39	1	3280	1	PAN2	12	56722284	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	293736	56722284	77129611	1168	138465											
MIP	4284	broad.mit.edu	37	chr12	56845068	56845068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcagctggagcttctacAgggcctgggtgttcagttca	12	9	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56845068A>C	uc001slh.2	-	4	820	c.788T>G	c.(787-789)CTG>CGG	p.L263R	TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank	NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	263	Cytoplasmic (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						GAGCTTCTACAGGGCCTGGGT	0.522													C	56845068	A	C	56845068	3	2	273	1	0	0	0	0	1	0	0	0	9591	188	7	5	7	5	MIP	12	56845068	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	122784	56845068	77006827	1169	138466											
MIP	4284	broad.mit.edu	37	chr12	56848194	56848194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaagtgactgcaggAttgacgtgggctccactgat	12	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56848194A>C	uc001slh.2	-	1	236	c.204T>G	c.(202-204)AAT>AAG	p.N68K		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	68	NPA 1.				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						TGACTGCAGGATTGACGTGGG	0.607													C	56848194	A	C	56848194	3	2	273	1	0	0	0	0	1	0	0	0	9591	330	12	5	603	5	MIP	12	56848194	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3126	56848194	77003701	1170	138467											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-													cgtttgcagtgacgctgtacGggggggaggtctactggact					rs139915490		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:57572241_57572241CG>C	uc001snd.3	+	26	4927	c.4461_4461CG>C	c.(4459-4461)tacfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	TGACGCTGTACGGGGGGGAGG	0.592													-	57572242	G	-	57572242	7	5	273	1	0	1	0	1	0	0	0	0	8951	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	724048	57572242	76279653	1171	138468											
SHMT2	6472	broad.mit.edu	37	chr12	57628071	57628071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcagaaacaagtcagcGtctggccaacctcaggcaac	10	13	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:57628071G>A	uc001snf.1	+	12	1452	c.1442G>A	c.(1441-1443)CGT>CAT	p.R481H	SHMT2_uc001sng.1_Missense_Mutation_p.R377H|SHMT2_uc001snh.1_Missense_Mutation_p.R320H|SHMT2_uc009zpk.1_Missense_Mutation_p.R471H|SHMT2_uc001sni.1_Missense_Mutation_p.R460H|SHMT2_uc010srg.1_Missense_Mutation_p.R490H|SHMT2_uc001snj.1_Missense_Mutation_p.R385H|SHMT2_uc010srh.1_Missense_Mutation_p.R460H|SHMT2_uc001snk.1_Missense_Mutation_p.R385H|SHMT2_uc010sri.1_Missense_Mutation_p.R460H|SHMT2_uc001snl.2_Missense_Mutation_p.R385H|SHMT2_uc010srj.1_Missense_Mutation_p.R136H	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	481						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACAAGTCAGCGTCTGGCCAAC	0.537													A	57628071	G	A	57628071	3	1	273	1	0	0	0	0	1	0	0	0	14286	1145	40	1	1488	1	SHMT2	12	57628071	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	55829	57628071	76223824	1172	138469											
METTL1	4234	broad.mit.edu	37	chr12	58163383	58163384	+	Frame_Shift_Ins	INS	-	-	G													taggcatattctgctagcagINSggtgggactgatgattcgcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:58163382_58163383A>AG	uc010ssd.2	-	3	586_587	c.538_539T>CT	c.(538-540)ctgfs	p.L180fs	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_Frame_Shift_Ins_p.P118fs|METTL21B_uc001sqf.3_5'Flank|METTL21B_uc001sqg.3_5'Flank|METTL21B_uc009zqd.3_5'Flank	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	180						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TTCTGCTAGCAGGGTGGGACTG	0.525													G	58163384	-	G	58163383	7	5	273	1	0	1	1	0	0	0	0	0	9493	1000	35	0	304	0	METTL1	12	58163383	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	535312	58163383	75688512	1173	138470											
USP15	9958	broad.mit.edu	37	chr12	62785090	62785090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttgcaaaggtcaactcaCgggacacaaaaaacgattgt	8	9	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:62785090C>T	uc001src.1	+	16	2123	c.2114C>T	c.(2113-2115)ACG>ATG	p.T705M	USP15_uc001srb.1_Missense_Mutation_p.T676M	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	705					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGTCAACTCACGGGACACAAA	0.368													T	62785090	C	T	62785090	3	4	273	1	0	0	0	0	1	0	0	0	17043	536	19	1	2085	1	USP15	12	62785090	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4621707	62785090	71066805	1174	138471											
MON2	23041	broad.mit.edu	37	chr12	62954330	62954331	+	Frame_Shift_Ins	INS	-	-	A													acagtcagcagcactcagcaINSaaaacaatgaagtatctctg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:62954329_62954330C>CA	uc001sre.3	+	25	3859_3860	c.3468_3469C>CA	c.(3466-3471)agcaaafs	p.S1156fs	MON2_uc010ssn.2_Frame_Shift_Ins_p.S1156fs|MON2_uc009zqj.3_Frame_Shift_Ins_p.S1156fs|MON2_uc010ssl.2_Frame_Shift_Ins_p.S1084fs|MON2_uc010ssm.2_Frame_Shift_Ins_p.S1133fs|MON2_uc001srf.3_Frame_Shift_Ins_p.S919fs|MON2_uc001srg.3_Frame_Shift_Ins_p.S31fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1157					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)		CAGCACTCAGCAAAAACAATGA	0.396													A	62954331	-	A	62954330	7	5	273	1	0	1	1	0	0	0	0	0	9700	131	5	0	3571	0	MON2	12	62954330	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	169240	62954330	70897565	1175	138472											
XPOT	11260	broad.mit.edu	37	chr12	64813965	64813965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttactaattctgaagtgaCgtgtcagtgccttgaagtag	11	6	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:64813965C>T	uc001ssb.2	+	7	1031	c.605C>T	c.(604-606)ACG>ATG	p.T202M	XPOT_uc009zqm.1_Missense_Mutation_p.T112M	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	202	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TCTGAAGTGACGTGTCAGTGC	0.353													T	64813965	C	T	64813965	3	4	273	1	0	0	0	0	1	0	0	0	17447	536	19	1	627	1	XPOT	12	64813965	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1859635	64813965	69037930	1176	138473											
XPOT	11260	broad.mit.edu	37	chr12	64819119	64819119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactttttcctgatctagcTggtaacatcaggagtcagtt	8	8	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:64819119T>C	uc001ssb.2	+	14	1880	c.1454T>C	c.(1453-1455)CTG>CCG	p.L485P		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	485	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		CTGATCTAGCTGGTAACATCA	0.373													C	64819119	T	C	64819119	3	2	273	1	0	0	0	0	1	0	0	0	17447	1594	55	3	1504	3	XPOT	12	64819119	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	5154	64819119	69032776	1177	138474											
LEMD3	23592	broad.mit.edu	37	chr12	65633992	65633992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcctattccacatgtacgCgattccttaatacagcctca	5	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:65633992C>T	uc001ssl.1	+	8	2106	c.2100C>T	c.(2098-2100)CGC>CGT	p.R700R	LEMD3_uc009zqo.1_Silent_p.R699R	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	700	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				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			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CACATGTACGCGATTCCTTAA	0.318													T	65633992	C	T	65633992	2	4	273	1	0	0	0	0	0	0	0	1	8721	755	27	1		1	LEMD3	12	65633992	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	814873	65633992	68217903	1178	138475											
DYRK2	8445	broad.mit.edu	37	chr12	68050922	68050922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaatgaatgatcacctgCatgtcggcagccacgctcac	8	14	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:68050922C>T	uc001str.3	+	3	637	c.235C>T	c.(235-237)CAT>TAT	p.H79Y	DYRK2_uc001sts.3_Missense_Mutation_p.H6Y	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	79					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			ovary(2)|breast(1)|central_nervous_system(1)	4			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)		TGATCACCTGCATGTCGGCAG	0.448													T	68050922	C	T	68050922	3	4	273	1	0	0	0	0	1	0	0	0	4856	710	25	2	245	2	DYRK2	12	68050922	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2416930	68050922	65800973	1179	138476											
NUP107	57122	broad.mit.edu	37	chr12	69085852	69085852	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ataacagaagatgtaactatCagtgctgttatgttacgtga	9	5	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:69085852C>A	uc001suf.2	+	5	523	c.408C>A	c.(406-408)ATC>ATA	p.I136I	NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Silent_p.I107I	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	136					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGTAACTATCAGTGCTGTTA	0.443													A	69085852	C	A	69085852	2	1	273	1	0	0	0	0	0	0	0	1	10753	816	29	5		5	NUP107	12	69085852	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1034930	69085852	64766043	1180	138477											
NUP107	57122	broad.mit.edu	37	chr12	69107564	69107564	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttcttacgttggaagTgttcgtccgcttgtcactga	10	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:69107564T>C	uc001suf.2	+	11	1060	c.945T>C	c.(943-945)AGT>AGC	p.S315S	NUP107_uc001sug.2_Silent_p.S162S|NUP107_uc010stj.1_Silent_p.S286S	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	315					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACGTTGGAAGTGTTCGTCCGC	0.333													C	69107564	T	C	69107564	2	2	273	1	0	0	0	0	0	0	0	1	10753	1693	59	3		3	NUP107	12	69107564	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	21712	69107564	64744331	1181	138478											
RAB3IP	117177	broad.mit.edu	37	chr12	70150428	70150428	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacgattaaaagaagaactCgcaaaagctcagagggtaag	11	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:70150428C>T	uc001svp.2	+	3	990	c.543C>T	c.(541-543)CTC>CTT	p.L181L	RAB3IP_uc001svl.1_Silent_p.L165L|RAB3IP_uc001svm.2_Silent_p.L165L|RAB3IP_uc001svn.2_Silent_p.L165L|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Silent_p.L181L|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	181	Potential.				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			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGAAGAACTCGCAAAAGCTC	0.363													T	70150428	C	T	70150428	2	4	273	1	0	0	0	0	0	0	0	1	12938	871	31	1		1	RAB3IP	12	70150428	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1042864	70150428	63701467	1182	138479											
TRHDE	29953	broad.mit.edu	37	chr12	72680485	72680485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgttactcagttttcGcctacacatgccagaaaggc	9	11	1	1	rs143921572	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:72680485G>A	uc001sxa.2	+	2	834	c.804G>A	c.(802-804)TCG>TCA	p.S268S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	268	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CTCAGTTTTCGCCTACACATG	0.358													A	72680485	G	A	72680485	2	1	273	1	0	0	0	0	0	0	0	1	16476	1074	38	1		1	TRHDE	12	72680485	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2530057	72680485	61171410	1183	138480											
KCNC2	3747	broad.mit.edu	37	chr12	75601576	75601576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggggcgctctcggcggcGgcgacagtggaggcggcgac	22	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:75601576G>A	uc001sxg.1	-	2	732	c.188C>T	c.(187-189)CCG>CTG	p.P63L	KCNC2_uc009zry.2_Missense_Mutation_p.P63L|KCNC2_uc001sxe.2_Missense_Mutation_p.P63L|KCNC2_uc001sxf.2_Missense_Mutation_p.P63L|KCNC2_uc010stw.1_Missense_Mutation_p.P63L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	63	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						tctcggcggcggcgacagtgg	0.527													A	75601576	G	A	75601576	3	1	273	1	0	0	0	0	1	0	0	0	8015	1116	39	1	1810	1	KCNC2	12	75601576	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2921091	75601576	58250319	1184	138481											
NAV3	89795	broad.mit.edu	37	chr12	78542637	78542637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcaaatccataaactgCggagagagctggttgcatca	10	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:78542637C>T	uc001syp.2	+	22	4896	c.4723C>T	c.(4723-4725)CGG>TGG	p.R1575W	NAV3_uc001syo.2_Missense_Mutation_p.R1575W|NAV3_uc010sub.1_Missense_Mutation_p.R1061W|NAV3_uc009zsf.2_Missense_Mutation_p.R406W	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CCATAAACTGCGGAGAGAGCT	0.333										HNSCC(70;0.22)			T	78542637	C	T	78542637	3	4	273	1	0	0	0	0	1	0	0	0	10185	759	27	1	4809	1	NAV3	12	78542637	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2941061	78542637	55309258	1185	138482											
MYF6	4618	broad.mit.edu	37	chr12	81101720	81101720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcctccacactgcccCggccagtgtctgatctgggc	11	17	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:81101720C>T	uc001szf.1	+	1	275	c.222C>T	c.(220-222)CCC>CCT	p.P74P		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	74					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)	1						CACACTGCCCCGGCCAGTGTC	0.652													T	81101720	C	T	81101720	2	4	273	1	0	0	0	0	0	0	0	1	10028	639	23	1		1	MYF6	12	81101720	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2559083	81101720	52750175	1186	138483											
C12orf26	84190	broad.mit.edu	37	chr12	82871071	82871071	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattttagttgaaagttgtActggctccctgtatagagac	9	6	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:82871071A>G	uc001szq.2	+	11	1680	c.1659A>G	c.(1657-1659)GTA>GTG	p.V553V		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	553											0						TGAAAGTTGTACTGGCTCCCT	0.279													G	82871071	A	G	82871071	2	3	273	1	0	0	0	0	0	0	0	1	1679	378	14	3		3	C12orf26	12	82871071	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1769351	82871071	50980824	1187	138484											
SLC6A15	55117	broad.mit.edu	37	chr12	85264343	85264343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacatactgccaaggcctAgattgaccagcatgaggaaa	9	10	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:85264343A>G	uc001szv.2	-	9	1902	c.1409T>C	c.(1408-1410)CTA>CCA	p.L470P	SLC6A15_uc010sul.1_Missense_Mutation_p.L363P|SLC6A15_uc001szw.1_Missense_Mutation_p.L178P	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	470	Helical; Name=8; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						GCCAAGGCCTAGATTGACCAG	0.438													G	85264343	A	G	85264343	3	3	273	1	0	0	0	0	1	0	0	0	14678	420	15	3	799	3	SLC6A15	12	85264343	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2393272	85264343	48587552	1188	138485											
LRRIQ1	84125	broad.mit.edu	37	chr12	85441050	85441050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatataaattttggataCtgtgaagtggaagaaaaatg	11	2	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:85441050C>T	uc001tac.2	+	6	591	c.480C>T	c.(478-480)TAC>TAT	p.Y160Y	LRRIQ1_uc001tab.1_Silent_p.Y160Y|LRRIQ1_uc001taa.1_Silent_p.Y160Y|LRRIQ1_uc001tad.2_Silent_p.Y68Y	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	160										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ATTTTGGATACTGTGAAGTGG	0.328													T	85441050	C	T	85441050	2	4	273	1	0	0	0	0	0	0	0	1	9029	576	20	4		4	LRRIQ1	12	85441050	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	176707	85441050	48410845	1189	138486											
ALX1	8092	broad.mit.edu	37	chr12	85695103	85695105	+	In_Frame_Del	DEL	CAA	CAA	-													cagttcagccacgtgcccctCaacaattttttcactgactc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:85695102_85695104TCAA>T	uc001tae.4	+	3	834_836	c.830_832TCAA>T	c.(829-834)ctcaac>cTac	p.N279del		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	279					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)		CACGTGCCCCTCAACAATTTTTT	0.473													-	85695105	CAA	-	85695103	7	5	273	1	0	1	0	1	0	0	0	0	556	813	29	0	845	0	ALX1	12	85695103	In_Frame_Del	DEL	CAA	TCGA-HU-A4GT-01A-21D-A25D-08	254053	85695103	48156792	1190	138487											
MGAT4C	25834	broad.mit.edu	37	chr12	86373330	86373330	+	Frame_Shift_Del	DEL	T	T	-													tgttccagtatttactttaaTtttttttattataattggat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:86373330delT	uc001tai.3	-	8	2424	c.1174delA	c.(1174-1176)ATTfs	p.I392fs	MGAT4C_uc001tal.3_Frame_Shift_Del_p.I392fs|MGAT4C_uc001taj.3_Frame_Shift_Del_p.I392fs|MGAT4C_uc001tak.3_Frame_Shift_Del_p.I392fs|MGAT4C_uc010sum.1_Frame_Shift_Del_p.I416fs|MGAT4C_uc001tah.3_Frame_Shift_Del_p.I392fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	392	Lumenal (Potential).				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			ovary(3)	3						TTTACtttaattttttttatt	0.358													-	86373330	T	-	86373330	7	5	273	1	0	1	0	1	0	0	0	0	9547	1493	52	0	266	0	MGAT4C	12	86373330	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	678227	86373330	47478565	1191	138488											
MGAT4C	25834	broad.mit.edu	37	chr12	86373627	86373627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgagccaacagaccacGgaaatgagtcaatagccaat	8	10	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:86373627G>A	uc001tai.3	-	8	2127	c.877C>T	c.(877-879)CGT>TGT	p.R293C	MGAT4C_uc001tal.3_Missense_Mutation_p.R293C|MGAT4C_uc001taj.3_Missense_Mutation_p.R293C|MGAT4C_uc001tak.3_Missense_Mutation_p.R293C|MGAT4C_uc010sum.1_Missense_Mutation_p.R317C|MGAT4C_uc001tah.3_Missense_Mutation_p.R293C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	293	Lumenal (Potential).				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			ovary(3)	3						AACAGACCACGGAAATGAGTC	0.383													A	86373627	G	A	86373627	3	1	273	1	0	0	0	0	1	0	0	0	9547	1116	39	1	563	1	MGAT4C	12	86373627	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	297	86373627	47478268	1192	138489											
MGAT4C	25834	broad.mit.edu	37	chr12	86373679	86373679	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgataaaacattaataaAaaatgggccaaacgtgggag	9	5	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:86373679A>C	uc001tai.3	-	8	2075	c.825T>G	c.(823-825)TTT>TTG	p.F275L	MGAT4C_uc001tal.3_Missense_Mutation_p.F275L|MGAT4C_uc001taj.3_Missense_Mutation_p.F275L|MGAT4C_uc001tak.3_Missense_Mutation_p.F275L|MGAT4C_uc010sum.1_Missense_Mutation_p.F299L|MGAT4C_uc001tah.3_Missense_Mutation_p.F275L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	275	Lumenal (Potential).				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			ovary(3)	3						ACATTAATAAAAAATGGGCCA	0.388													C	86373679	A	C	86373679	3	2	273	1	0	0	0	0	1	0	0	0	9547	11	1	5	615	5	MGAT4C	12	86373679	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	52	86373679	47478216	1193	138490											
CEP290	80184	broad.mit.edu	37	chr12	88453675	88453675	+	Frame_Shift_Del	DEL	T	T	-													atcagtcataaaagtcatacTtttttaagttctttacgaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:88453675delT	uc001tar.2	-	48	6989	c.6645delA	c.(6643-6645)AAAfs	p.K2215fs	CEP290_uc001taq.2_Frame_Shift_Del_p.K1275fs	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2215	Potential.				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			ovary(5)|breast(1)|pancreas(1)	7						AAAGTCATACTTTTTTAAGTT	0.333													-	88453675	T	-	88453675	7	5	273	1	0	1	0	1	0	0	0	0	3253	1623	56	0	822	0	CEP290	12	88453675	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	2079996	88453675	45398220	1194	138491											
CEP290	80184	broad.mit.edu	37	chr12	88478553	88478553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcaatcgaagcctcAgttcattgattactttgtct	9	9	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:88478553A>G	uc001tar.2	-	35	4858	c.4514T>C	c.(4513-4515)CTG>CCG	p.L1505P	CEP290_uc001taq.2_Missense_Mutation_p.L565P	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1505					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			ovary(5)|breast(1)|pancreas(1)	7						TCGAAGCCTCAGTTCATTGAT	0.358													G	88478553	A	G	88478553	3	3	273	1	0	0	0	0	1	0	0	0	3253	188	7	3	3005	3	CEP290	12	88478553	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	24878	88478553	45373342	1195	138492											
TMCC3	57458	broad.mit.edu	37	chr12	94975970	94975970	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccattctgctcgatctcTctgagctttcgatgatactg	8	12	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:94975970T>G	uc001tdj.2	-	2	541	c.423A>C	c.(421-423)AGA>AGC	p.R141S	TMCC3_uc001tdi.2_Missense_Mutation_p.R110S	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	141	Potential.					integral to membrane				ovary(1)|skin(1)	2						GCTCGATCTCTCTGAGCTTTC	0.468													G	94975970	T	G	94975970	3	3	273	1	0	0	0	0	1	0	0	0	15991	1548	54	5	1022	5	TMCC3	12	94975970	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6497417	94975970	38875925	1196	138493											
METAP2	10988	broad.mit.edu	37	chr12	95887859	95887859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttggagaactacaagTgaagaaaagaaagcattaga	11	5	0	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:95887859T>C	uc001tec.2	+	5	590	c.456T>C	c.(454-456)AGT>AGC	p.S152S	METAP2_uc010suv.1_Silent_p.S129S|METAP2_uc009ztd.2_Silent_p.S116S|METAP2_uc001ted.2_Silent_p.S151S|METAP2_uc001tef.2_Silent_p.S129S|METAP2_uc001tee.2_RNA	NM_006838	NP_006829	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	152					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0					L-Methionine(DB00134)	GAACTACAAGTGAAGAAAAGA	0.383													C	95887859	T	C	95887859	2	2	273	1	0	0	0	0	0	0	0	1	9487	1693	59	3		3	METAP2	12	95887859	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	911889	95887859	37964036	1197	138494											
NR1H4	9971	broad.mit.edu	37	chr12	100928723	100928723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaaaaaatgtgaagcaGcatgcagatcagaccgtgaa	11	7	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:100928723G>A	uc001tht.1	+	4	712	c.684G>A	c.(682-684)CAG>CAA	p.Q228Q	NR1H4_uc001thp.1_Silent_p.Q214Q|NR1H4_uc001thq.1_Silent_p.Q218Q|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.Q218Q|NR1H4_uc010svk.1_Silent_p.Q167Q|NR1H4_uc001ths.1_Silent_p.Q224Q	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	228					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			ovary(1)|lung(1)|skin(1)	3						ATGTGAAGCAGCATGCAGATC	0.403													A	100928723	G	A	100928723	2	1	273	1	0	0	0	0	0	0	0	1	10619	962	34	2		2	NR1H4	12	100928723	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5040864	100928723	32923172	1198	138495											
UTP20	27340	broad.mit.edu	37	chr12	101736730	101736730	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttatagcttaacgccttCgatcaaagacatcttgatga	6	9	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:101736730C>T	uc001tia.1	+	35	4464	c.4308C>T	c.(4306-4308)TTC>TTT	p.F1436F		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1436					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			ovary(2)|breast(2)	4						TTAACGCCTTCGATCAAAGAC	0.328													T	101736730	C	T	101736730	2	4	273	1	0	0	0	0	0	0	0	1	17096	883	31	1		1	UTP20	12	101736730	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	808007	101736730	32115165	1199	138496											
STAB2	55576	broad.mit.edu	37	chr12	104071330	104071330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagatcaacaactgcctgCtgcccagtgcaggcggctgc	13	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:104071330C>T	uc001tjw.2	+	25	2932	c.2746C>T	c.(2746-2748)CTG>TTG	p.L916L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	916	Extracellular (Potential).|EGF-like 9.				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			ovary(9)|skin(5)	14						CAACTGCCTGCTGCCCAGTGC	0.577													T	104071330	C	T	104071330	2	4	273	1	0	0	0	0	0	0	0	1	15237	796	28	2		2	STAB2	12	104071330	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2334600	104071330	29780565	1200	138497											
HCFC2	29915	broad.mit.edu	37	chr12	104480794	104480794	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaccaaatatgcaaggTaacataattttcatgcttaa	6	8	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:104480794T>C	uc001tkj.3	+	8	1334	c.1231_splice	c.e8+2	p.G411_splice	HCFC2_uc009zul.2_Splice_Site	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						ATATGCAAGGTAACATAATTT	0.289													C	104480794	T	C	104480794	5	2	273	1	0	0	0	0	0	0	1	0	6993	1652	57	3	1263	3	HCFC2	12	104480794	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	409464	104480794	29371101	1201	138498											
POLR3B	55703	broad.mit.edu	37	chr12	106897881	106897881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccactgaaggacggtctCgtgatggtggcttgcgtctc	13	11	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:106897881C>T	uc001tlp.2	+	27	3343	c.3121C>T	c.(3121-3123)CGT>TGT	p.R1041C	POLR3B_uc001tlq.2_Missense_Mutation_p.R983C	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1041					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			ovary(1)|central_nervous_system(1)	2						AGGACGGTCTCGTGATGGTGG	0.353													T	106897881	C	T	106897881	3	4	273	1	0	0	0	0	1	0	0	0	12229	884	31	1	3227	1	POLR3B	12	106897881	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2417087	106897881	26954014	1202	138499											
FICD	11153	broad.mit.edu	37	chr12	108913186	108913186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgccacaactgagtactcGgtggcactgccagaagccca	10	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:108913186G>A	uc001tmx.1	+	3	1457	c.1311G>A	c.(1309-1311)TCG>TCA	p.S437S		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	437					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						CTGAGTACTCGGTGGCACTGC	0.552													A	108913186	G	A	108913186	2	1	273	1	0	0	0	0	0	0	0	1	5887	1103	39	1		1	FICD	12	108913186	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2015305	108913186	24938709	1203	138500											
ACACB	32	broad.mit.edu	37	chr12	109702080	109702080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgaaaggacctggagggCcggctaaaggctcgcgagga	17	10	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:109702080C>T	uc001tob.2	+	50	6950	c.6831C>T	c.(6829-6831)GGC>GGT	p.G2277G	ACACB_uc001toc.2_Silent_p.G2277G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.G943G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2277	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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACCTGGAGGGCCGGCTAAAGG	0.612											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	109702080	C	T	109702080	2	4	273	1	0	0	0	0	0	0	0	1	107	726	26	2		2	ACACB	12	109702080	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	788894	109702080	24149815	1204	138501											
CCDC63	160762	broad.mit.edu	37	chr12	111336860	111336860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaagataaactgtgacGccaccaagatcctggtgcag	10	10	1	4	rs148044780		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:111336860G>A	uc001trv.1	+	10	1468	c.1273G>A	c.(1273-1275)GCC>ACC	p.A425T	CCDC63_uc010sye.1_Missense_Mutation_p.A385T|CCDC63_uc001trw.1_Missense_Mutation_p.A340T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	425										skin(6)|ovary(1)|pancreas(1)	8						AAACTGTGACGCCACCAAGAT	0.498													A	111336860	G	A	111336860	3	1	273	1	0	0	0	0	1	0	0	0	2834	1087	38	1	1307	1	CCDC63	12	111336860	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1634780	111336860	22515035	1205	138502											
TRAFD1	10906	broad.mit.edu	37	chr12	112578723	112578723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattattgtggtgcccggaCggaactatgtggcaactgtg	14	7	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:112578723C>T	uc001ttp.2	+	5	424	c.338C>T	c.(337-339)ACG>ATG	p.T113M	TRAFD1_uc001tto.2_Missense_Mutation_p.T113M|TRAFD1_uc009zwb.2_Missense_Mutation_p.T113M|TRAFD1_uc010syj.1_RNA	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	113					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0						GGTGCCCGGACGGAACTATGT	0.483													T	112578723	C	T	112578723	3	4	273	1	0	0	0	0	1	0	0	0	16444	536	19	1	352	1	TRAFD1	12	112578723	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1241863	112578723	21273172	1206	138503											
C12orf51	283450	broad.mit.edu	37	chr12	112690240	112690240	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtacctgagcgcgaacTgtgcaagcaaagccccacat	9	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:112690240T>C	uc009zwc.2	-	16	2292	c.2274A>G	c.(2272-2274)ACA>ACG	p.T758T	C12orf51_uc010syk.1_Silent_p.T580T|C12orf51_uc001tts.2_Silent_p.T571T|C12orf51_uc001ttt.3_Silent_p.T569T	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GAGCGCGAACTGTGCAAGCAA	0.453													C	112690240	T	C	112690240	2	2	273	1	0	0	0	0	0	0	0	1	1696	1567	55	3		3	C12orf51	12	112690240	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	111517	112690240	21161655	1207	138504											
TPCN1	53373	broad.mit.edu	37	chr12	113704017	113704017	+	Frame_Shift_Del	DEL	C	C	-													aacgacaagttcttcacccaCcccaaggatgccaaggcgct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:113704016_113704016AC>A	uc001tux.3	+	4	659	c.485_485AC>A	c.(484-486)cacfs	p.H162fs	TPCN1_uc001tuw.3_Frame_Shift_Del_p.H90fs|TPCN1_uc010syt.1_Frame_Shift_Del_p.H22fs	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	90						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						TTCTTCACCCACCCCAAGGAT	0.587													-	113704017	C	-	113704017	7	5	273	1	0	1	0	1	0	0	0	0	16392	506	18	0	500	0	TPCN1	12	113704017	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	1013777	113704017	20147878	1208	138505											
MED13L	23389	broad.mit.edu	37	chr12	116453016	116453016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctttggactgtgcatcGttatcatccctccatcttgg	7	12	3	0	rs139163900		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:116453016G>A	uc001tvw.2	-	8	1128	c.1073C>T	c.(1072-1074)ACG>ATG	p.T358M		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	358					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGTGCATCGTTATCATCCC	0.468													A	116453016	G	A	116453016	3	1	273	1	0	0	0	0	1	0	0	0	9431	1145	40	1	5655	1	MED13L	12	116453016	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2748999	116453016	17398879	1209	138506											
HSPB8	26353	broad.mit.edu	37	chr12	119617377	119617377	+	Frame_Shift_Del	DEL	C	C	-													ggtgcctgccgagggcaggaCccccccacccttccctgggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:119617377delC	uc001txb.2	+	1	783	c.260delC	c.(259-261)ACCfs	p.T87fs	HSPB8_uc001txc.2_Frame_Shift_Del_p.T87fs	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	87					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGGCAGGACCCCCCCACCC	0.647													-	119617377	C	-	119617377	7	5	273	1	0	1	0	1	0	0	0	0	7423	507	18	0	262	0	HSPB8	12	119617377	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	3164361	119617377	14234518	1210	138507											
RNF10	9921	broad.mit.edu	37	chr12	121013635	121013635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccctgtggacagcgaCggggagagtgataattcaga	14	10	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:121013635C>T	uc001typ.3	+	16	2724	c.2241C>T	c.(2239-2241)GAC>GAT	p.D747D	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.D658D	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	747					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACAGCGACGGGGAGAGTG	0.428													T	121013635	C	T	121013635	2	4	273	1	0	0	0	0	0	0	0	1	13422	535	19	1		1	RNF10	12	121013635	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1396258	121013635	12838260	1211	138508											
KDM2B	84678	broad.mit.edu	37	chr12	121879010	121879010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggttcaggtcaatgCgggtccacaaccgcttatcg	12	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:121879010C>T	uc001uat.2	-	20	3415	c.3311G>A	c.(3310-3312)CGC>CAC	p.R1104H	KDM2B_uc001uaq.2_Missense_Mutation_p.R544H|KDM2B_uc010szy.1_Missense_Mutation_p.R544H|KDM2B_uc001uar.2_Missense_Mutation_p.R695H|KDM2B_uc001uas.2_Missense_Mutation_p.R1035H|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R352H|KDM2B_uc010szx.1_Missense_Mutation_p.R352H|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1104	LRR 1.|F-box.				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			ovary(1)|skin(1)	2						CAGGTCAATGCGGGTCCACAA	0.607													T	121879010	C	T	121879010	3	4	273	1	0	0	0	0	1	0	0	0	8125	768	27	1	767	1	KDM2B	12	121879010	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	865375	121879010	11972885	1212	138509											
WDR66	144406	broad.mit.edu	37	chr12	122396951	122396951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaatattccagaaccaGtgtgactcatataagctttt	5	8	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:122396951G>A	uc009zxk.2	+	13	2226	c.2084G>A	c.(2083-2085)AGT>AAT	p.S695N		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	695	WD 8.						calcium ion binding			ovary(1)|skin(1)	2	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)		TCCAGAACCAGTGTGACTCAT	0.413													A	122396951	G	A	122396951	3	1	273	1	0	0	0	0	1	0	0	0	17314	1029	36	4	2130	4	WDR66	12	122396951	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	517941	122396951	11454944	1213	138510											
GPR81	27198	broad.mit.edu	37	chr12	123213848	123213848	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttggtctgcttgttcAgtgccactcaacaatgtggg	12	8	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:123213848A>G	uc001ucz.2	-	1	1282	c.1039T>C	c.(1039-1041)TGA>CGA	p.*347R	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	347					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTGCTTGTTCAGTGCCACTCA	0.498													G	123213848	A	G	123213848	4	3	273	1	0	0	0	0	0	0	0	0	6711	201	7	3	5	3	GPR81	12	123213848	Nonstop_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	816897	123213848	10638047	1214	138511											
PITPNM2	57605	broad.mit.edu	37	chr12	123471070	123471070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgctgtacaccgccacGtccttggtggagccataggc	13	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:123471070G>A	uc001uej.1	-	24	3778	c.3639C>T	c.(3637-3639)GAC>GAT	p.D1213D	PITPNM2_uc001uek.1_Silent_p.D1207D	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1213					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		ACACCGCCACGTCCTTGGTGG	0.667													A	123471070	G	A	123471070	2	1	273	1	0	0	0	0	0	0	0	1	11951	1136	40	1		1	PITPNM2	12	123471070	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	257222	123471070	10380825	1215	138512											
DNAH10	196385	broad.mit.edu	37	chr12	124414281	124414281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccaaggatcccgtgggGcagcctcaagtacctaattg	12	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:124414281G>A	uc001uft.3	+	71	12258	c.12233G>A	c.(12232-12234)GGC>GAC	p.G4078D	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4078	TPR 5.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		ATCCCGTGGGGCAGCCTCAAG	0.547													A	124414281	G	A	124414281	3	1	273	1	0	0	0	0	1	0	0	0	4598	1203	42	2	12515	2	DNAH10	12	124414281	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	943211	124414281	9437614	1216	138513											
ZNF664	144348	broad.mit.edu	37	chr12	124497439	124497439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatccaccagagagtccacAcaaaggagagaaaccatctc	8	13	1	2	rs142961134	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:124497439A>G	uc001ufz.2	+	6	2578	c.748A>G	c.(748-750)ACA>GCA	p.T250A	ZNF664_uc001uga.2_Missense_Mutation_p.T250A|ZNF664_uc001ugb.2_Missense_Mutation_p.T250A	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)		GAGAGTCCACACAAAGGAGAG	0.433													G	124497439	A	G	124497439	3	3	273	1	0	0	0	0	1	0	0	0	18069	159	6	3	750	3	ZNF664	12	124497439	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	83158	124497439	9354456	1217	138514											
EP400	57634	broad.mit.edu	37	chr12	132508398	132508398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctcagccagagacgccGgtgacactgcagttccaggg	15	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132508398G>A	uc001ujn.2	+	23	4802	c.4767G>A	c.(4765-4767)CCG>CCA	p.P1589P	EP400_uc001ujl.2_Silent_p.P1588P|EP400_uc001ujm.2_Silent_p.P1508P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1625					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CAGAGACGCCGGTGACACTGC	0.587													A	132508398	G	A	132508398	2	1	273	1	0	0	0	0	0	0	0	1	5149	1103	39	1		1	EP400	12	132508398	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	8010959	132508398	1343497	1218	138515											
EP400	57634	broad.mit.edu	37	chr12	132551914	132551914	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgcctgcaggacagacCgtggtggcccagcccgtgca	14	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132551914C>A	uc001ujn.2	+	49	8792	c.8757C>A	c.(8755-8757)ACC>ACA	p.T2919T	EP400_uc001ujl.2_Silent_p.T2918T|EP400_uc001ujm.2_Silent_p.T2838T|EP400_uc001ujp.2_Silent_p.T129T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2955					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CAGGACAGACCGTGGTGGCCC	0.612													A	132551914	C	A	132551914	2	1	273	1	0	0	0	0	0	0	0	1	5149	639	23	5		5	EP400	12	132551914	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	43516	132551914	1299981	1219	138516											
NOC4L	79050	broad.mit.edu	37	chr12	132632470	132632470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacgctgctgtctgccGtgagcctgccccgccgggag	13	17	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132632470G>A	uc001ujz.1	+	6	690	c.649G>A	c.(649-651)GTG>ATG	p.V217M		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	217					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCTGTCTGCCGTGAGCCTGCC	0.687													A	132632470	G	A	132632470	3	1	273	1	0	0	0	0	1	0	0	0	10515	1145	40	1	671	1	NOC4L	12	132632470	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	80556	132632470	1219425	1220	138517											
NOC4L	79050	broad.mit.edu	37	chr12	132633428	132633428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgacttcctcacccgcGcctgcgacctcggtgagtgc	11	16	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132633428G>A	uc001ujz.1	+	9	930	c.889G>A	c.(889-891)GCC>ACC	p.A297T		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	297	Helical; (Potential).				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTCACCCGCGCCTGCGACCT	0.657													A	132633428	G	A	132633428	3	1	273	1	0	0	0	0	1	0	0	0	10515	1087	38	1	923	1	NOC4L	12	132633428	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	958	132633428	1218467	1221	138518											
POLE	5426	broad.mit.edu	37	chr12	133249248	133249248	+	Frame_Shift_Del	DEL	C	C	-													agggatatcgctgcggaaaaCcccagactcgagggcctcca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:133249248delC	uc001uks.1	-	15	1695	c.1651delG	c.(1651-1653)GTTfs	p.V551fs	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Del_p.V524fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	551					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		CTGCGGAAAACCCCAGACTCG	0.572								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					-	133249248	C	-	133249248	7	5	273	1	0	1	0	1	0	0	0	0	12196	507	18	0	5349	0	POLE	12	133249248	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	615820	133249248	602647	1222	138519											
TUBA3C	7278	broad.mit.edu	37	chr13	19753647	19753647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcagtacagttcccaGcaggcattgccgatctggac	11	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:19753647G>A	uc009zzj.2	-	2	109	c.60C>T	c.(58-60)TGC>TGT	p.C20C		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	20					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		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)		ACAGTTCCCAGCAGGCATTGC	0.502													A	19753647	G	A	19753647	2	1	273	1	0	0	0	0	0	0	0	1	16743	963	34	2		2	TUBA3C	13	19753647	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		19753647	95416231	1223	138520											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235961	20235961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacgggaccaccgccctcAttcatgctgcagagaaggtt	11	12	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:20235961A>G	uc001umh.2	+	8	1924	c.1915A>G	c.(1915-1917)ATT>GTT	p.I639V	MPHOSPH8_uc001umg.2_Missense_Mutation_p.I639V	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	639	ANK 2.				cell cycle	cytoplasm|nucleus					0		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)		CACCGCCCTCATTCATGCTGC	0.542													G	20235961	A	G	20235961	3	3	273	1	0	0	0	0	1	0	0	0	9727	217	8	3	1945	3	MPHOSPH8	13	20235961	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	482314	20235961	94933917	1224	138521											
ZMYM2	7750	broad.mit.edu	37	chr13	20608520	20608520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtaaatttctctggcGttaagagacctttctgtagt	8	7	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:20608520G>A	uc001umr.2	+	12	2393	c.2095G>A	c.(2095-2097)GTT>ATT	p.V699I	ZMYM2_uc001ums.2_Missense_Mutation_p.V699I|ZMYM2_uc001umt.2_Missense_Mutation_p.V699I|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.V79I|ZMYM2_uc001umw.2_Missense_Mutation_p.V152I	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		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)		TTTCTCTGGCGTTAAGAGACC	0.328													A	20608520	G	A	20608520	3	1	273	1	0	0	0	0	1	0	0	0	17697	1145	40	1	2129	1	ZMYM2	13	20608520	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	372559	20608520	94561358	1225	138522											
PABPC3	5042	broad.mit.edu	37	chr13	25671157	25671157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaagtggaacggcagaCggaacttaagcgcacatttg	12	7	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:25671157C>T	uc001upy.2	+	1	882	c.821C>T	c.(820-822)ACG>ATG	p.T274M		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	274					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		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)		GAACGGCAGACGGAACTTAAG	0.393													T	25671157	C	T	25671157	3	4	273	1	0	0	0	0	1	0	0	0	11365	536	19	1	823	1	PABPC3	13	25671157	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5062637	25671157	89498721	1226	138523											
GPR12	2835	broad.mit.edu	37	chr13	27333504	27333504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgacataggtaaacgtgAccgtcctctccgaatggtac	10	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:27333504A>G	uc010aal.2	-	2	683	c.461T>C	c.(460-462)GTC>GCC	p.V154A	GPR12_uc010tdl.1_5'UTR	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	154	Cytoplasmic (Potential).					integral to plasma membrane					0	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)		GGTAAACGTGACCGTCCTCTC	0.587													G	27333504	A	G	27333504	3	3	273	1	0	0	0	0	1	0	0	0	6635	275	10	3	547	3	GPR12	13	27333504	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1662347	27333504	87836374	1227	138524											
PAN3	255967	broad.mit.edu	37	chr13	28834624	28834624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctccaactgcacctcAcgttgcttatatgcaaccga	5	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:28834624A>G	uc001urz.2	+	7	859	c.851A>G	c.(850-852)CAC>CGC	p.H284R	PAN3_uc010tdo.1_Missense_Mutation_p.H430R|PAN3_uc001ury.2_Missense_Mutation_p.H118R|PAN3_uc001urx.2_Missense_Mutation_p.H230R	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	430	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			ovary(1)	1	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)		ACTGCACCTCACGTTGCTTAT	0.358													G	28834624	A	G	28834624	3	3	273	1	0	0	0	0	1	0	0	0	11415	159	6	3	1319	3	PAN3	13	28834624	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1501120	28834624	86335254	1228	138525											
FLT1	2321	broad.mit.edu	37	chr13	28877304	28877304	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataaggcttcgtgtcaaactCtagatgggtggggtggagta	15	5	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:28877304C>T	uc001usb.3	-	30	4302	c.4017G>A	c.(4015-4017)TAG>TAA	p.*1339*	FLT1_uc010aap.2_Silent_p.*344*|FLT1_uc010aaq.2_Silent_p.*464*|FLT1_uc001usa.3_Silent_p.*557*	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1339					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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	GTGTCAAACTCTAGATGGGTG	0.478													T	28877304	C	T	28877304	2	4	273	1	0	0	0	0	0	0	0	1	5941	924	32	4		4	FLT1	13	28877304	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	42680	28877304	86292574	1229	138526											
B3GALTL	145173	broad.mit.edu	37	chr13	31850906	31850906	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagaaatttcatggtgacaGaagtatgttttgggttattc	10	4	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:31850906G>A	uc010aaz.2	+	10	958	c.848G>A	c.(847-849)AGA>AAA	p.R283K	B3GALTL_uc001utn.3_RNA	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	283	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		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)		CATGGTGACAGAAGTATGTTT	0.303													A	31850906	G	A	31850906	3	1	273	1	0	0	0	0	1	0	0	0	1252	942	33	4	886	4	B3GALTL	13	31850906	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2973602	31850906	83318972	1230	138527											
BRCA2	675	broad.mit.edu	37	chr13	32972674	32972674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtaattcaatagctgacGaagaacttgcattgataaat	7	5	1	3	rs28897761		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:32972674G>A	uc001uub.1	+	27	10251	c.10024G>A	c.(10024-10026)GAA>AAA	p.E3342K		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3342					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		AATAGCTGACGAAGAACTTGC	0.358			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			A	32972674	G	A	32972674	3	1	273	1	0	0	0	0	1	0	0	0	1499	1059	37	1	10126	1	BRCA2	13	32972674	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1121768	32972674	82197204	1231	138528											
NBEA	26960	broad.mit.edu	37	chr13	35733215	35733215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaatatcaaagacaagaGgaggaaaacattaaaaaggg	12	3	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:35733215G>T	uc001uvb.2	+	23	3113	c.2907G>T	c.(2905-2907)GAG>GAT	p.E969D	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	969						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AAAGACAAGAGGAGGAAAACA	0.373													T	35733215	G	T	35733215	3	4	273	1	0	0	0	0	1	0	0	0	10187	991	35	5	2993	5	NBEA	13	35733215	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2760541	35733215	79436663	1232	138529											
MAB21L1	4081	broad.mit.edu	37	chr13	36049335	36049335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtagtggggacaccgcCggcactgcaggcaggagata	16	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36049335C>A	uc001uvc.2	-	1	1498	c.941G>T	c.(940-942)CGG>CTG	p.R314L	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	314					anatomical structure morphogenesis	nucleus				ovary(2)	2		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)		GGGACACCGCCGGCACTGCAG	0.542													A	36049335	C	A	36049335	3	1	273	1	0	0	0	0	1	0	0	0	9141	652	23	5	142	5	MAB21L1	13	36049335	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	316120	36049335	79120543	1233	138530											
NBEA	26960	broad.mit.edu	37	chr13	36125103	36125104	+	Frame_Shift_Ins	INS	-	-	A													ttccctgatcaagcaacagtINSaaaaaaagttgtctatagct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36125103_36125104insA	uc001uvb.2	+	43	6946_6947	c.6740_6741insA	c.(6739-6741)GTAfs	p.V2247fs	NBEA_uc010abi.2_Frame_Shift_Ins_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Ins_p.V40fs|NBEA_uc010tef.1_Frame_Shift_Ins_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Ins_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CAAGCAACAGTAAAAAAAGTTG	0.381													A	36125104	-	A	36125103	7	5	273	1	0	1	1	0	0	0	0	0	10187	1638	57	0	6910	0	NBEA	13	36125103	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	75768	36125103	79044775	1234	138531	734	2									
NBEA	26960	broad.mit.edu	37	chr13	36125104	36125105	+	Frame_Shift_Ins	INS	-	-	A													tccctgatcaagcaacagtaINSaaaaaagttgtctatagctt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36125103_36125104T>TA	uc021rid.1	+	42	7274_7275	c.6740_6741T>TA	c.(6739-6741)gtafs	p.V2247fs	NBEA_uc021ric.1_Frame_Shift_Ins_p.V2244fs|NBEA_uc010abi.3_Frame_Shift_Ins_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Ins_p.V40fs|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Frame_Shift_Ins_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Ins_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2247						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)		CAAGCAACAGTAAAAAAAGTTG	0.381													A	36125105	-	A	36125104	7	5	273	1	0	1	1	0	0	0	0	0	10187	349	13	0	6911	0	NBEA	13	36125104	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	36125104	79044774	1235	138532	734	2									
DCLK1	9201	broad.mit.edu	37	chr13	36686184	36686184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagcttgggccgaatgAaatccttattctctcgcacc	8	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36686184A>G	uc001uvf.2	-	3	778	c.545T>C	c.(544-546)TTC>TCC	p.F182S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	182					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			stomach(6)|ovary(2)|skin(1)	9		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)		GGGCCGAATGAAATCCTTATT	0.532													G	36686184	A	G	36686184	3	3	273	1	0	0	0	0	1	0	0	0	4291	246	9	3	1708	3	DCLK1	13	36686184	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	561080	36686184	78483694	1236	138533											
SPG20	23111	broad.mit.edu	37	chr13	36909285	36909285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttacaaaaaaaatctgtActccatttggtatcaaaatc	4	7	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36909285A>G	uc001uvn.2	-	3	953	c.683T>C	c.(682-684)GTA>GCA	p.V228A	SPG20_uc010ten.1_Missense_Mutation_p.V228A|SPG20_uc001uvm.2_Missense_Mutation_p.V228A|SPG20_uc001uvo.2_Missense_Mutation_p.V228A|SPG20_uc001uvq.2_Missense_Mutation_p.V228A|SPG20_uc001uvp.2_Missense_Mutation_p.V228A	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	228					cell death	cytoplasm	ubiquitin protein ligase binding				0		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													G	36909285	A	G	36909285	3	3	273	1	0	0	0	0	1	0	0	0	15041	391	14	3	1349	3	SPG20	13	36909285	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	223101	36909285	78260593	1237	138534											
COG6	57511	broad.mit.edu	37	chr13	40229900	40229900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagtggtcgcagtgtctGcgaccggggctgccaacggc	18	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:40229900G>A	uc001uxh.2	+	1	137	c.37G>A	c.(37-39)GCG>ACG	p.A13T	COG6_uc001uxi.2_5'UTR|COG6_uc010acb.2_Missense_Mutation_p.A13T	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	13					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CGCAGTGTCTGCGACCGGGGC	0.701													A	40229900	G	A	40229900	3	1	273	1	0	0	0	0	1	0	0	0	3662	1319	46	2	39	2	COG6	13	40229900	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3320615	40229900	74939978	1238	138535											
KIAA0564	23078	broad.mit.edu	37	chr13	42465631	42465631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctctctgttttccagCaagttgttcaaaacaggcaa	7	10	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42465631C>T	uc001uyj.2	-	5	646	c.576G>A	c.(574-576)TTG>TTA	p.L192L	KIAA0564_uc001uyk.2_Silent_p.L192L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	192						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGTTTTCCAGCAAGTTGTTCA	0.448													T	42465631	C	T	42465631	2	4	273	1	0	0	0	0	0	0	0	1	8185	709	25	2		2	KIAA0564	13	42465631	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2235731	42465631	72704247	1239	138536											
DGKH	160851	broad.mit.edu	37	chr13	42734149	42734149	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttccttctccacaggtCgcgatgcctcaccagtggct	8	15	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42734149C>T	uc001uyl.1	+	7	753	c.732C>T	c.(730-732)GTC>GTT	p.V244V	DGKH_uc010tfh.1_Silent_p.V244V|DGKH_uc001uym.1_Silent_p.V244V|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Silent_p.V99V|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.V99V|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	244					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			ovary(2)	2		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)		CTCCACAGGTCGCGATGCCTC	0.537													T	42734149	C	T	42734149	2	4	273	1	0	0	0	0	0	0	0	1	4470	871	31	1		1	DGKH	13	42734149	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	268518	42734149	72435729	1240	138537											
DGKH	160851	broad.mit.edu	37	chr13	42773797	42773797	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taataataaaagagaggagcAccctgaaaaatgcaggtaat	9	5	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42773797A>G	uc001uyl.1	+	19	2402	c.2381A>G	c.(2380-2382)CAC>CGC	p.H794R	DGKH_uc010tfh.1_Missense_Mutation_p.H794R|DGKH_uc001uym.1_Missense_Mutation_p.H794R|DGKH_uc010tfi.1_Missense_Mutation_p.H549R|DGKH_uc010tfj.1_Missense_Mutation_p.H649R|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.H649R|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	794					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			ovary(2)	2		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)		AGAGAGGAGCACCCTGAAAAA	0.284													G	42773797	A	G	42773797	3	3	273	1	0	0	0	0	1	0	0	0	4470	159	6	3	2455	3	DGKH	13	42773797	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	39648	42773797	72396081	1241	138538											
AKAP11	11215	broad.mit.edu	37	chr13	42874358	42874358	+	Frame_Shift_Del	DEL	A	A	-													tacacctatgaagactatgcAaaaagcatttcatgtgaagt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42874357_42874357CA>C	uc001uys.2	+	7	1650	c.1475_1475CA>C	c.(1474-1476)gcafs	p.A492fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	492					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)		GAAGACTATGCAAAAAGCATT	0.353													-	42874358	A	-	42874358	7	5	273	1	0	1	0	1	0	0	0	0	447	117	5	0	1498	0	AKAP11	13	42874358	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	100561	42874358	72295520	1242	138539											
ZC3H13	23091	broad.mit.edu	37	chr13	46543661	46543662	+	Frame_Shift_Ins	INS	-	-	T													cacctttggattttttacgtINStttttttcaatgcttttctt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:46543660_46543661G>GT	uc010tfw.1	-	12	3024_3025	c.3018_3019C>AC	c.(3016-3021)aaacgtfs	p.K1006fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Ins_p.K1006fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.K1006fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1006	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		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)		GATTTTTTACGTTTTTTTTCAA	0.371													T	46543662	-	T	46543661	7	5	273	1	0	1	1	0	0	0	0	0	17562	1722	60	0	1692	0	ZC3H13	13	46543661	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3669303	46543661	68626217	1243	138540											
RCBTB1	55213	broad.mit.edu	37	chr13	50140831	50140831	+	Frame_Shift_Del	DEL	T	T	-													ttccacataagccttctagcTttttgggtacaagtgtactc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:50140830_50140830CT>C	uc001vde.1	-	3	462	c.201_201AG>G	c.(199-201)aagfs	p.K67fs		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	67					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCCTTCTAGCTTTTTGGGTA	0.403													-	50140831	T	-	50140831	7	5	273	1	0	1	0	1	0	0	0	0	13171	1609	56	0	1435	0	RCBTB1	13	50140831	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	3597170	50140831	65029047	1244	138541											
KPNA3	3839	broad.mit.edu	37	chr13	50306762	50306762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcctggacagcactcAattggaccactgggttatca	10	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:50306762A>G	uc001vdj.2	-	5	681	c.266T>C	c.(265-267)TTG>TCG	p.L89S		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	89	ARM 1; truncated.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-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;1.42e-09)		GACAGCACTCAATTGGACCAC	0.343													G	50306762	A	G	50306762	3	3	273	1	0	0	0	0	1	0	0	0	8431	131	5	3	1351	3	KPNA3	13	50306762	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	165931	50306762	64863116	1245	138542											
FAM124A	220108	broad.mit.edu	37	chr13	51825756	51825756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttccgggtgtccgagaggCgggcgtcccggcggcggcgg	21	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:51825756C>T	uc001vfg.1	+	3	384	c.253C>T	c.(253-255)CGG>TGG	p.R85W	FAM124A_uc001vfe.2_Missense_Mutation_p.R85W|FAM124A_uc001vff.1_Missense_Mutation_p.R121W	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	85										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GTCCGAGAGGCGGGCGTCCCG	0.697													T	51825756	C	T	51825756	3	4	273	1	0	0	0	0	1	0	0	0	5425	759	27	1	375	1	FAM124A	13	51825756	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1518994	51825756	63344122	1246	138543											
THSD1	55901	broad.mit.edu	37	chr13	52952547	52952547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggattatcttctgggCgttggactggaagctctcgc	15	8	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:52952547C>T	uc001vgo.2	-	5	2103	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	THSD1_uc001vgp.2_Missense_Mutation_p.A467T|THSD1_uc010tgz.1_Missense_Mutation_p.A141T|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	520	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		ATCTTCTGGGCGTTGGACTGG	0.567													T	52952547	C	T	52952547	3	4	273	1	0	0	0	0	1	0	0	0	15874	768	27	1	1004	1	THSD1	13	52952547	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1126791	52952547	62217331	1247	138544											
PCDH8	5100	broad.mit.edu	37	chr13	53420246	53420246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacctccttcttgcggcGgttgcaggtggtggcgatgg	17	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:53420246G>A	uc001vhi.2	-	1	2529	c.2326C>T	c.(2326-2328)CGC>TGC	p.R776C	PCDH8_uc001vhj.2_Missense_Mutation_p.R776C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	776	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		TTCTTGCGGCGGTTGCAGGTG	0.617													A	53420246	G	A	53420246	3	1	273	1	0	0	0	0	1	0	0	0	11517	1116	39	1	898	1	PCDH8	13	53420246	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	467699	53420246	61749632	1248	138545											
PCDH8	5100	broad.mit.edu	37	chr13	53420426	53420426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcgcagccggcccacGcccgccccctgctgttacca	12	20	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:53420426G>A	uc001vhi.2	-	1	2349	c.2146C>T	c.(2146-2148)CGT>TGT	p.R716C	PCDH8_uc001vhj.2_Missense_Mutation_p.R716C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	716	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		GCCGGCCCACGCCCGCCCCCT	0.721													A	53420426	G	A	53420426	3	1	273	1	0	0	0	0	1	0	0	0	11517	1087	38	1	1078	1	PCDH8	13	53420426	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	180	53420426	61749452	1249	138546											
PCDH17	27253	broad.mit.edu	37	chr13	58208859	58208859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcggccatgatcaccatcGccgtcaagtgcaagcgcgag	12	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:58208859G>A	uc001vhq.1	+	1	3071	c.2179G>A	c.(2179-2181)GCC>ACC	p.A727T	PCDH17_uc010aec.1_Missense_Mutation_p.A727T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	727	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCACCATCGCCGTCAAGTG	0.597													A	58208859	G	A	58208859	3	1	273	1	0	0	0	0	1	0	0	0	11512	1087	38	1	2181	1	PCDH17	13	58208859	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4788433	58208859	56961019	1250	138547											
PCDH17	27253	broad.mit.edu	37	chr13	58298855	58298855	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggctgaaaatgcagattaCcgcacaaatctctttgtacc	7	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:58298855C>A	uc001vhq.1	+	4	3799	c.2907C>A	c.(2905-2907)TAC>TAA	p.Y969*	PCDH17_uc010aec.1_Nonsense_Mutation_p.Y968*|PCDH17_uc001vhr.1_Nonsense_Mutation_p.Y58*	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	969	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATGCAGATTACCGCACAAATC	0.438													A	58298855	C	A	58298855	4	1	273	1	0	0	0	0	0	1	0	0	11512	518	18	5	2921	5	PCDH17	13	58298855	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	89996	58298855	56871023	1251	138548											
TDRD3	81550	broad.mit.edu	37	chr13	61102848	61102849	+	Frame_Shift_Ins	INS	-	-	A													gcatagtgatggtgcttttaINSaaaaaagagataactctatg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:61102847_61102848T>TA	uc001vhz.4	+	10	1997_1998	c.1209_1210T>TA	c.(1207-1212)tttaaafs	p.F403fs	TDRD3_uc010aef.2_Frame_Shift_Ins_p.F228fs|TDRD3_uc001via.3_Frame_Shift_Ins_p.F403fs|TDRD3_uc010aeg.3_Frame_Shift_Ins_p.F496fs|TDRD3_uc001vib.4_Frame_Shift_Ins_p.F402fs	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	403					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ATGGTGCTTTTAAAAAAAGAGA	0.371													A	61102849	-	A	61102848	7	5	273	1	0	1	1	0	0	0	0	0	15729	363	13	0	1531	0	TDRD3	13	61102848	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2803993	61102848	54067030	1252	138549											
PCDH9	5101	broad.mit.edu	37	chr13	67800778	67800778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttattctctccagcatctgCatctgtcactgtgattaccc	5	13	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:67800778C>T	uc001vik.2	-	2	2487	c.1795G>A	c.(1795-1797)GCA>ACA	p.A599T	PCDH9_uc001vil.2_Missense_Mutation_p.A599T|PCDH9_uc010thl.1_Missense_Mutation_p.A599T|PCDH9_uc001vin.3_Missense_Mutation_p.A599T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	599	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCAGCATCTGCATCTGTCACT	0.373													T	67800778	C	T	67800778	3	4	273	1	0	0	0	0	1	0	0	0	11518	710	25	2	1934	2	PCDH9	13	67800778	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6697930	67800778	47369100	1253	138550											
PCDH9	5101	broad.mit.edu	37	chr13	67802452	67802452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcctttggtatgtttcCtatgggcacattttcaggca	9	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:67802452C>T	uc001vik.2	-	2	813	c.121G>A	c.(121-123)GGA>AGA	p.G41R	PCDH9_uc001vil.2_Missense_Mutation_p.G41R|PCDH9_uc010thl.1_Missense_Mutation_p.G41R|PCDH9_uc001vin.3_Missense_Mutation_p.G41R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	41	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTATGTTTCCTATGGGCACA	0.473													T	67802452	C	T	67802452	3	4	273	1	0	0	0	0	1	0	0	0	11518	690	24	4	3608	4	PCDH9	13	67802452	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1674	67802452	47367426	1254	138551											
KLHL1	57626	broad.mit.edu	37	chr13	70514320	70514320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaagctgaagaaggcacGctgcagcaagaaggttctca	14	8	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:70514320G>A	uc001vip.2	-	4	1660	c.866C>T	c.(865-867)GCG>GTG	p.A289V	KLHL1_uc010thm.1_Missense_Mutation_p.A228V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	289					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGAAGGCACGCTGCAGCAAG	0.408													A	70514320	G	A	70514320	3	1	273	1	0	0	0	0	1	0	0	0	8365	1087	38	1	1412	1	KLHL1	13	70514320	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2711868	70514320	44655558	1255	138552											
MYCBP2	23077	broad.mit.edu	37	chr13	77632491	77632491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtttttaacacccccGcatggatggccacaaggatg	9	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:77632491G>A	uc001vkf.2	-	79	13168	c.13077C>T	c.(13075-13077)TGC>TGT	p.C4359C	MYCBP2_uc010aev.2_Silent_p.C3763C|MYCBP2_uc001vke.2_Silent_p.C976C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448													A	77632491	G	A	77632491	2	1	273	1	0	0	0	0	0	0	0	1	10018	1079	38	1		1	MYCBP2	13	77632491	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7118171	77632491	37537387	1256	138553											
MYCBP2	23077	broad.mit.edu	37	chr13	77670602	77670602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtaaccttgtccaccagCatatcggccacaaccttgaa	6	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:77670602C>T	uc001vkf.2	-	58	9776	c.9685G>A	c.(9685-9687)GCT>ACT	p.A3229T	MYCBP2_uc010aev.2_Missense_Mutation_p.A2633T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3229	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTCCACCAGCATATCGGCCA	0.398													T	77670602	C	T	77670602	3	4	273	1	0	0	0	0	1	0	0	0	10018	710	25	2	4345	2	MYCBP2	13	77670602	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	38111	77670602	37499276	1257	138554											
MYCBP2	23077	broad.mit.edu	37	chr13	77725048	77725049	+	Frame_Shift_Ins	INS	-	-	T													tgatcttgttgtaaagacatINSttttttctgagaaacaggga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:77725047_77725048A>AT	uc021rks.1	-	46	7219_7220	c.6952_6953T>AT	c.(6952-6954)atgfs	p.M2318fs	MYCBP2_uc010aev.3_Frame_Shift_Ins_p.M1684fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2280					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)		TTGTAAAGACATTTTTTTCTGA	0.371													T	77725049	-	T	77725048	7	5	273	1	0	1	1	0	0	0	0	0	10018	1493	52	0	7232	0	MYCBP2	13	77725048	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	54446	77725048	37444830	1258	138555											
SLITRK1	114798	broad.mit.edu	37	chr13	84453795	84453795	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgggaccaacaccgagatGgacaccctgctggtgtctag	12	14	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:84453795G>T	uc001vlk.2	-	1	2734	c.1848C>A	c.(1846-1848)TCC>TCA	p.S616S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	616	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACACCGAGATGGACACCCTGC	0.582													T	84453795	G	T	84453795	2	4	273	1	0	0	0	0	0	0	0	1	14742	1335	47	5		5	SLITRK1	13	84453795	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6728747	84453795	30716083	1259	138556											
UGGT2	55757	broad.mit.edu	37	chr13	96555238	96555238	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagctgccaaaattcctctaGaaatagctgtgttctcttca	6	10	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:96555238G>T	uc001vmt.2	-	21	2542	c.2372C>A	c.(2371-2373)TCT>TAT	p.S791Y		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	791					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AATTCCTCTAGAAATAGCTGT	0.333													T	96555238	G	T	96555238	3	4	273	1	0	0	0	0	1	0	0	0	16939	942	33	5	2254	5	UGGT2	13	96555238	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	12101443	96555238	18614640	1260	138557											
OXGR1	27199	broad.mit.edu	37	chr13	97639850	97639850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaaatgtaagtggatAtcactactgcattgcctgga	9	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:97639850A>G	uc001vmx.1	-	4	408	c.164T>C	c.(163-165)ATA>ACA	p.I55T	OXGR1_uc010afr.1_Missense_Mutation_p.I55T	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GTAAGTGGATATCACTACTGC	0.458													G	97639850	A	G	97639850	3	3	273	1	0	0	0	0	1	0	0	0	11332	449	16	3	853	3	OXGR1	13	97639850	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1084612	97639850	17530028	1261	138558											
RNF113B	140432	broad.mit.edu	37	chr13	98828988	98828988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcctcgccatccccgagGaggagttgcccatggacgtg	12	15	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:98828988G>A	uc001vnk.2	-	1	534	c.503C>T	c.(502-504)TCC>TTC	p.S168F	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	168							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CATCCCCGAGGAGGAGTTGCC	0.632													A	98828988	G	A	98828988	3	1	273	1	0	0	0	0	1	0	0	0	13428	1174	41	4	473	4	RNF113B	13	98828988	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1189138	98828988	16340890	1262	138559											
NALCN	259232	broad.mit.edu	37	chr13	101755523	101755524	+	Frame_Shift_Ins	INS	-	-	A													aaggataattctcacataccINSaaaaaaatttccttgaagcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:101755523_101755524insA	uc001vox.1	-	26	3245_3246	c.3056_3057insT	c.(3055-3057)TTGfs	p.L1019fs		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1019	Helical; Name=S5 of repeat III; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCACATACCAAAAAAATTTC	0.431													A	101755524	-	A	101755523	7	5	273	1	0	1	1	0	0	0	0	0	10148	608	21	0	2235	0	NALCN	13	101755523	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2926535	101755523	13414355	1263	138560	735	2									
NALCN	259232	broad.mit.edu	37	chr13	101755524	101755525	+	Splice_Site	INS	-	-	A													aggataattctcacataccaINSaaaaaatttccttgaagccg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:101755523_101755524C>CA	uc001vox.1	-	26	3246	c.3057_splice	c.e26+1	p.L1019_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1019						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)					TCTCACATACCAAAAAAATTTC	0.431													A	101755525	-	A	101755524	8	5	273	1	0	1	1	0	0	0	1	0	10148	144	5	0	2236	0	NALCN	13	101755524	Splice_Site	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	101755524	13414354	1264	138561	735	2									
NALCN	259232	broad.mit.edu	37	chr13	101936360	101936360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaacctccagcagcatctTcatgaaacatcttcaagaca	5	14	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:101936360T>G	uc001vox.1	-	10	1247	c.1058A>C	c.(1057-1059)GAA>GCA	p.E353A	NALCN_uc001voy.2_Missense_Mutation_p.E68A|NALCN_uc001voz.2_Missense_Mutation_p.E353A|NALCN_uc001vpa.2_Missense_Mutation_p.E353A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	353	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCAGCATCTTCATGAAACAT	0.443													G	101936360	T	G	101936360	3	3	273	1	0	0	0	0	1	0	0	0	10148	1783	62	5	4298	5	NALCN	13	101936360	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	180836	101936360	13233518	1265	138562											
ITGBL1	9358	broad.mit.edu	37	chr13	102105191	102105191	+	Frame_Shift_Del	DEL	C	C	-													cccaggagctcagcatgcgtCccccaggcttcaggaacttc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:102105190_102105190TC>T	uc001vpb.3	+	0	225	c.6_6TC>T	c.(4-6)cgtfs	p.R2fs	ITGBL1_uc010agb.3_Frame_Shift_Del_p.R2fs|ITGBL1_uc001vpc.4_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	2					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.R2H(1)		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)					TCAGCATGCGTCCCCCAGGCT	0.607													-	102105191	C	-	102105191	7	5	273	1	0	1	0	1	0	0	0	0	7902	855	30	0	9	0	ITGBL1	13	102105191	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	168831	102105191	13064687	1266	138563											
COL4A1	1282	broad.mit.edu	37	chr13	110828812	110828812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatccttttggtcccggaAgtcctggagcacctggggtt	13	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:110828812A>C	uc001vqw.3	-	36	3139	c.3017T>G	c.(3016-3018)CTT>CGT	p.L1006R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1006	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			TGGTCCCGGAAGTCCTGGAGC	0.478													C	110828812	A	C	110828812	3	2	273	1	0	0	0	0	1	0	0	0	3689	72	3	5	2060	5	COL4A1	13	110828812	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	8723621	110828812	4341066	1267	138564											
CARS2	79587	broad.mit.edu	37	chr13	111299480	111299480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcttccctgacggagccGcaggccagctgccccttcat	10	17	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:111299480G>A	uc001vrd.2	-	11	1201	c.1161C>T	c.(1159-1161)TGC>TGT	p.C387C	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	387					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	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;0.163)		L-Cysteine(DB00151)	TGACGGAGCCGCAGGCCAGCT	0.667													A	111299480	G	A	111299480	2	1	273	1	0	0	0	0	0	0	0	1	2658	1079	38	1		1	CARS2	13	111299480	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	470668	111299480	3870398	1268	138565											
SOX1	6656	broad.mit.edu	37	chr13	112722252	112722252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagtggaaggtcatgtccGaggccgagaagcggccgttc	16	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:112722252G>A	uc001vsb.1	+	1	340	c.280G>A	c.(280-282)GAG>AAG	p.E94K		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	94	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	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)		GGTCATGTCCGAGGCCGAGAA	0.662													A	112722252	G	A	112722252	3	1	273	1	0	0	0	0	1	0	0	0	14940	1059	37	1	282	1	SOX1	13	112722252	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1422772	112722252	2447626	1269	138566											
ATP11A	23250	broad.mit.edu	37	chr13	113512204	113512204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggtgcaaatgatgtcAgcatgattctggaagcgcac	13	8	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:113512204A>G	uc001vsi.3	+	21	2579	c.2491A>G	c.(2491-2493)AGC>GGC	p.S831G	ATP11A_uc001vsj.3_Missense_Mutation_p.S831G|ATP11A_uc001vsm.1_Missense_Mutation_p.S707G|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	831	Cytoplasmic (Potential).				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			large_intestine(2)|ovary(2)	4	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)				AAATGATGTCAGCATGATTCT	0.468													G	113512204	A	G	113512204	3	3	273	1	0	0	0	0	1	0	0	0	1119	188	7	3	2573	3	ATP11A	13	113512204	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	789952	113512204	1657674	1270	138567											
MCF2L	23263	broad.mit.edu	37	chr13	113699656	113699656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatggacctccgtgaaggCgtccgtcctgcgcatcgcag	12	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:113699656C>T	uc001vsu.2	+	4	543	c.521C>T	c.(520-522)GCG>GTG	p.A174V	MCF2L_uc001vsq.2_Missense_Mutation_p.A174V|MCF2L_uc010tjr.1_Missense_Mutation_p.A117V|MCF2L_uc001vsr.2_Missense_Mutation_p.A121V|MCF2L_uc001vss.3_Missense_Mutation_p.A115V|MCF2L_uc010tjs.1_Missense_Mutation_p.A115V|MCF2L_uc001vst.1_Missense_Mutation_p.A79V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	147	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.A115V(1)		ovary(1)|kidney(1)	2	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)				TCCGTGAAGGCGTCCGTCCTG	0.652													T	113699656	C	T	113699656	3	4	273	1	0	0	0	0	1	0	0	0	9379	768	27	1	630	1	MCF2L	13	113699656	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	187452	113699656	1470222	1271	138568											
ADPRHL1	113622	broad.mit.edu	37	chr13	114098772	114098772	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acggtgtgtgccaggcgagaAggtagttattgggctttagc	16	6	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:114098772A>C	uc001vtq.1	-	2	434	c.347T>G	c.(346-348)CTT>CGT	p.L116R	ADPRHL1_uc001vtp.1_Missense_Mutation_p.L34R	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	116					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	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;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCAGGCGAGAAGGTAGTTATT	0.542													C	114098772	A	C	114098772	3	2	273	1	0	0	0	0	1	0	0	0	332	72	3	5	741	5	ADPRHL1	13	114098772	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	399116	114098772	1071106	1272	138569											
CDC16	8881	broad.mit.edu	37	chr13	115007681	115007681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctacagctacaaagaagCtttgaagcttgatgtctact	7	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:115007681C>T	uc001vuk.1	+	6	665	c.467C>T	c.(466-468)GCT>GTT	p.A156V	CDC16_uc010tkm.1_Missense_Mutation_p.A156V|CDC16_uc001vul.1_Missense_Mutation_p.A156V|CDC16_uc001vum.1_Missense_Mutation_p.A62V|CDC16_uc001vun.1_Missense_Mutation_p.A155V|CDC16_uc001vuo.1_Missense_Mutation_p.A155V	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	156	TPR 1.				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				0	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)			TACAAAGAAGCTTTGAAGCTT	0.398													T	115007681	C	T	115007681	3	4	273	1	0	0	0	0	1	0	0	0	3058	797	28	2	489	2	CDC16	13	115007681	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	908909	115007681	162197	1273	138570											
OR4K13	390433	broad.mit.edu	37	chr14	20502296	20502296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaggaggaagcagaccaGtgacaggagcccactgtcag	14	10	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:20502296G>A	uc010tkz.1	-	1	622	c.622C>T	c.(622-624)CTG>TTG	p.L208L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGCAGACCAGTGACAGGAGC	0.493													A	20502296	G	A	20502296	2	1	273	1	0	0	0	0	0	0	0	1	11068	1020	36	4		4	OR4K13	14	20502296	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		20502296	86847244	1274	138571											
SUPT16H	11198	broad.mit.edu	37	chr14	21829015	21829015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccataccattgacatgGgcctccagtgagccttgcat	8	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:21829015G>A	uc001wao.2	-	17	2385	c.2046C>T	c.(2044-2046)GCC>GCT	p.A682A	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	682					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				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTGACATGGGCCTCCAGTG	0.428													A	21829015	G	A	21829015	2	1	273	1	0	0	0	0	0	0	0	1	15393	1219	43	4		4	SUPT16H	14	21829015	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1326719	21829015	85520525	1275	138572											
CHD8	57680	broad.mit.edu	37	chr14	21896212	21896212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgctcaccgcgggcacGggctctcgcaatggcctctg	13	15	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:21896212G>A	uc001was.1	-	4	674	c.580C>T	c.(580-582)CGT>TGT	p.R194C	CHD8_uc001war.1_Missense_Mutation_p.R90C	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	473					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCGCGGGCACGGGCTCTCGCA	0.542													A	21896212	G	A	21896212	3	1	273	1	0	0	0	0	1	0	0	0	3331	1116	39	1	6468	1	CHD8	14	21896212	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	67197	21896212	85453328	1276	138573											
MMP14	4323	broad.mit.edu	37	chr14	23312625	23312625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcatccagcaactttAtggcgagtagtctacaccca	10	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23312625A>G	uc001whc.2	+	5	1082	c.848A>G	c.(847-849)TAT>TGT	p.Y283C		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	283	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CAGCAACTTTATGGCGAGTAG	0.577													G	23312625	A	G	23312625	3	3	273	1	0	0	0	0	1	0	0	0	9653	449	16	3	866	3	MMP14	14	23312625	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1416413	23312625	84036915	1277	138574											
LRP10	26020	broad.mit.edu	37	chr14	23345494	23345494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcattacagctgcagTcattggcagcctagtgtgcg	12	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23345494T>C	uc001whd.2	+	5	1890	c.1337T>C	c.(1336-1338)GTC>GCC	p.V446A	LRP10_uc001whe.2_Missense_Mutation_p.V322A	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	446	Helical; (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACAGCTGCAGTCATTGGCAGC	0.602													C	23345494	T	C	23345494	3	2	273	1	0	0	0	0	1	0	0	0	8952	1667	58	3	1355	3	LRP10	14	23345494	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	32869	23345494	84004046	1278	138575											
HAUS4	54930	broad.mit.edu	37	chr14	23416875	23416875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgatgcggtctagctcGgattgagtcttcagccggtg	14	9	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23416875G>A	uc001whp.2	-	7	805	c.774C>T	c.(772-774)TCC>TCT	p.S258S	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Silent_p.S132S|HAUS4_uc001whr.2_Silent_p.S258S|HAUS4_uc001whs.2_Silent_p.S213S|HAUS4_uc001wht.2_Silent_p.S258S|HAUS4_uc001whu.2_Silent_p.S213S|HAUS4_uc001whv.2_Silent_p.S134S|HAUS4_uc001whw.2_Silent_p.S258S|HAUS4_uc001whx.2_Silent_p.S213S	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	258					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1						GGTCTAGCTCGGATTGAGTCT	0.522													A	23416875	G	A	23416875	2	1	273	1	0	0	0	0	0	0	0	1	6968	1103	39	1		1	HAUS4	14	23416875	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	71381	23416875	83932665	1279	138576											
IL25	64806	broad.mit.edu	37	chr14	23845070	23845070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagcttgtgtgtgtgtgcGgccccgtgtgatgggctagc	16	9	0	1	rs145694193	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23845070G>A	uc001wjr.2	+	2	825	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	IL25_uc001wjq.2_Missense_Mutation_p.R156Q|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	172					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GTGTGTGTGCGGCCCCGTGTG	0.617													A	23845070	G	A	23845070	3	1	273	1	0	0	0	0	1	0	0	0	7678	1116	39	1	534	1	IL25	14	23845070	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	428195	23845070	83504470	1280	138577											
NGDN	25983	broad.mit.edu	37	chr14	23944469	23944469	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacaaagcctcaggaggAtctcttcagggacatgatgc	12	10	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23944469A>G	uc001wjy.2	+	4	261	c.234A>G	c.(232-234)GGA>GGG	p.G78G	NGDN_uc001wjz.2_Silent_p.G78G|NGDN_uc001wka.2_5'Flank	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	78	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCAGGAGGATCTCTTCAGG	0.463													G	23944469	A	G	23944469	2	3	273	1	0	0	0	0	0	0	0	1	10393	320	12	3		3	NGDN	14	23944469	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	99399	23944469	83405071	1281	138578											
DHRS4L2	317749	broad.mit.edu	37	chr14	24470245	24470245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttctttttccagaggCggctcagtggtgatcgtgtc	11	11	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24470245C>T	uc001wli.3	+	5	613	c.483C>T	c.(481-483)GGC>GGT	p.G161G	DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Missense_Mutation_p.R138W|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Intron|DHRS4L2_uc010alb.2_Silent_p.G35G	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4	99							binding|oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)		TTTCCAGAGGCGGCTCAGTGG	0.552													T	24470245	C	T	24470245	2	4	273	1	0	0	0	0	0	0	0	1	4494	755	27	1		1	DHRS4L2	14	24470245	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	525776	24470245	82879295	1282	138579											
LRRC16B	90668	broad.mit.edu	37	chr14	24534900	24534900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagccaagggttcacGgtgttgcccttcccgggttg	13	13	1	0	rs149692862		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24534900G>A	uc001wlj.2	+	34	3623	c.3466G>A	c.(3466-3468)GGT>AGT	p.G1156S	LRRC16B_uc001wlk.2_Intron	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1156										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		AAGGGTTCACGGTGTTGCCCT	0.587													A	24534900	G	A	24534900	3	1	273	1	0	0	0	0	1	0	0	0	8972	1116	39	1	3600	1	LRRC16B	14	24534900	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	64655	24534900	82814640	1283	138580											
CPNE6	9362	broad.mit.edu	37	chr14	24545608	24545608	+	Frame_Shift_Del	DEL	C	C	-													tttggctttggggctcgaatCccccccaacttcgaggtagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24545607_24545607TC>T	uc010tnv.2	+	12	1408	c.1262_1262TC>T	c.(1261-1263)atcfs	p.I421fs	CPNE6_uc001wlm.3_Frame_Shift_Del_p.I191fs|CPNE6_uc001wll.3_Frame_Shift_Del_p.I366fs|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	366	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)		GGGGCTCGAATCCCCCCCAAC	0.602													-	24545608	C	-	24545608	7	5	273	1	0	1	0	1	0	0	0	0	3816	845	30	0	1140	0	CPNE6	14	24545608	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	10708	24545608	82803932	1284	138581											
PCK2	5106	broad.mit.edu	37	chr14	24572735	24572735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggaagatcatcatgcaCgacccatttgccatgcggcc	10	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24572735C>T	uc001wlt.2	+	10	1617	c.1485C>T	c.(1483-1485)CAC>CAT	p.H495H	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Silent_p.H361H|PCK2_uc010tnx.1_Silent_p.H361H|PCK2_uc001wlu.3_Silent_p.H329H	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	495					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		TCATCATGCACGACCCATTTG	0.582													T	24572735	C	T	24572735	2	4	273	1	0	0	0	0	0	0	0	1	11582	535	19	1		1	PCK2	14	24572735	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	27127	24572735	82776805	1285	138582											
PCK2	5106	broad.mit.edu	37	chr14	24572829	24572829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcaagggggcccagctgCcccgtatcttccatgtcaac	12	15	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24572829C>T	uc001wlt.2	+	10	1711	c.1579C>T	c.(1579-1581)CCC>TCC	p.P527S	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Missense_Mutation_p.P393S|PCK2_uc010tnx.1_Missense_Mutation_p.P393S|PCK2_uc001wlu.3_Missense_Mutation_p.P361S	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	527					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		GGCCCAGCTGCCCCGTATCTT	0.607													T	24572829	C	T	24572829	3	4	273	1	0	0	0	0	1	0	0	0	11582	739	26	2	1709	2	PCK2	14	24572829	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	94	24572829	82776711	1286	138583											
DHRS1	115817	broad.mit.edu	37	chr14	24760809	24760809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcaattctgtggtttccGcagatgagaaggctgatttg	11	8	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24760809G>A	uc001woj.1	-	7	946	c.677C>T	c.(676-678)GCG>GTG	p.A226V	DHRS1_uc010aln.1_Intron|DHRS1_uc001wok.2_Missense_Mutation_p.A226V	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	226						endoplasmic reticulum	binding|oxidoreductase activity				0				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TGTGGTTTCCGCAGATGAGAA	0.493													A	24760809	G	A	24760809	3	1	273	1	0	0	0	0	1	0	0	0	4486	1087	38	1	276	1	DHRS1	14	24760809	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	187980	24760809	82588731	1287	138584											
GZMH	2999	broad.mit.edu	37	chr14	25075938	25075939	+	Frame_Shift_Ins	INS	-	-	C													cgtccttacacacgaggggcINScccccggagtccccctgtga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:25075937_25075938G>GC	uc001wpr.1	-	4	657_658	c.612_613C>GC	c.(610-615)gggcccfs	p.G204fs	GZMH_uc010aly.1_Frame_Shift_Ins_p.G118fs|GZMH_uc010alz.1_Frame_Shift_Ins_p.G73fs	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	204	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CACACGAGGGGCCCCCCGGAGT	0.535													C	25075939	-	C	25075938	7	5	273	1	0	1	1	0	0	0	0	0	6917	726	26	0	132	0	GZMH	14	25075938	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	315129	25075938	82273602	1288	138585											
COCH	1690	broad.mit.edu	37	chr14	31354747	31354747	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccagagagtttggtgTcaatgtatttatagtttctg	12	4	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:31354747T>A	uc001wqr.2	+	10	961	c.881T>A	c.(880-882)GTC>GAC	p.V294D	COCH_uc001wqp.2_Missense_Mutation_p.V294D|COCH_uc001wqq.3_Missense_Mutation_p.V294D|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.V145D	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	294	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	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;0.00645)		GAGTTTGGTGTCAATGTATTT	0.458													A	31354747	T	A	31354747	3	1	273	1	0	0	0	0	1	0	0	0	3656	1667	58	5	915	5	COCH	14	31354747	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6278809	31354747	75994793	1289	138586											
INSM2	84684	broad.mit.edu	37	chr14	36003677	36003677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcggcccgggaacagtcGgggtcgccatgtcgggcggc	20	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:36003677G>A	uc001wth.1	+	1	430	c.219G>A	c.(217-219)TCG>TCA	p.S73S		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	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)		GGGAACAGTCGGGGTCGCCAT	0.736													A	36003677	G	A	36003677	2	1	273	1	0	0	0	0	0	0	0	1	7772	1103	39	1		1	INSM2	14	36003677	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4648930	36003677	71345863	1290	138587											
C14orf104	55172	broad.mit.edu	37	chr14	50100341	50100341	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcccgggaccacccatGgcgcaggctgagcgctggcc	15	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:50100341G>T	uc001wws.3	-	1	1608	c.1527C>A	c.(1525-1527)GCC>GCA	p.A509A	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.A509A	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	509					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					GACCACCCATGGCGCAGGCTG	0.617									Kartagener_syndrome				T	50100341	G	T	50100341	2	4	273	1	0	0	0	0	0	0	0	1	1736	1335	47	5		5	C14orf104	14	50100341	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	14096664	50100341	57249199	1291	138588											
NIN	51199	broad.mit.edu	37	chr14	51224327	51224327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcacttaggacatgccGcctggtcacaccttctactt	8	14	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:51224327G>A	uc001wym.2	-	18	3612	c.3421C>T	c.(3421-3423)CGG>TGG	p.R1141W	NIN_uc001wyi.2_Missense_Mutation_p.R1141W|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.R1147W|NIN_uc001wyo.2_Missense_Mutation_p.R1141W	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1141					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					AGGACATGCCGCCTGGTCACA	0.483			T	PDGFRB	MPD								A	51224327	G	A	51224327	3	1	273	1	0	0	0	0	1	0	0	0	10417	1086	38	1	3184	1	NIN	14	51224327	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1123986	51224327	56125213	1292	138589											
GCH1	2643	broad.mit.edu	37	chr14	55369080	55369080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtgaagaactgcatgGccgaggccgccctccagggc	14	14	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:55369080G>A	uc001xbh.1	-	1	463	c.302C>T	c.(301-303)GCC>GTC	p.A101V	GCH1_uc001xbi.1_Missense_Mutation_p.A101V|GCH1_uc001xbj.1_Missense_Mutation_p.A101V|GCH1_uc001xbk.1_Missense_Mutation_p.A101V|GCH1_uc010aol.1_Missense_Mutation_p.A101V|GCH1_uc001xbl.1_Missense_Mutation_p.A101V	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	GTP cyclohydrolase 1 isoform 1	101					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			skin(1)	1						GAACTGCATGGCCGAGGCCGC	0.682													A	55369080	G	A	55369080	3	1	273	1	0	0	0	0	1	0	0	0	6291	1203	42	2	574	2	GCH1	14	55369080	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4144753	55369080	51980460	1293	138590											
WDHD1	11169	broad.mit.edu	37	chr14	55462349	55462349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcatcatcttctaggatGtgacttcgctgtctaggacg	9	9	5	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:55462349G>A	uc001xbm.1	-	11	1203	c.1125C>T	c.(1123-1125)CAC>CAT	p.H375H	WDHD1_uc001xbn.1_Silent_p.H252H	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	375						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CTTCTAGGATGTGACTTCGCT	0.348													A	55462349	G	A	55462349	2	1	273	1	0	0	0	0	0	0	0	1	17268	1368	48	4		4	WDHD1	14	55462349	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	93269	55462349	51887191	1294	138591											
TBPL2	387332	broad.mit.edu	37	chr14	55903630	55903630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagatgtttctttgactTcagggttcgaattaaatgca	8	8	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:55903630T>C	uc001xby.2	-	2	257	c.257A>G	c.(256-258)GAA>GGA	p.E86G		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	86					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						TTCTTTGACTTCAGGGTTCGA	0.443													C	55903630	T	C	55903630	3	2	273	1	0	0	0	0	1	0	0	0	15643	1783	62	3	894	3	TBPL2	14	55903630	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	441281	55903630	51445910	1295	138592											
DACT1	51339	broad.mit.edu	37	chr14	59112122	59112123	+	Frame_Shift_Ins	INS	-	-	A													ccagtgtgatctggtgtctaINSaaaacgggaatgatgtatat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:59112121_59112122T>TA	uc001xdw.3	+	3	944_945	c.780_781T>TA	c.(778-783)tctaaafs	p.S260fs	DACT1_uc010trv.2_5'UTR|DACT1_uc001xdx.3_Frame_Shift_Ins_p.S223fs|DACT1_uc010trw.2_5'UTR	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	260					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ATCTGGTGTCTAAAAACGGGAA	0.5													A	59112123	-	A	59112122	7	5	273	1	0	1	1	0	0	0	0	0	4222	363	13	0	795	0	DACT1	14	59112122	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3208492	59112122	48237418	1296	138593											
SIX4	51804	broad.mit.edu	37	chr14	61190792	61190792	+	Frame_Shift_Del	DEL	T	T	-													ggtgggggaggaagaggacaTtttttgttgtttattttcct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:61190792delT	uc001xfc.2	-	1	1	c.1delA	c.(1-3)ATGfs	p.M1fs	SIX4_uc010app.1_Intron	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	1						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAAGAGGACATTTTTTGTTGT	0.323													-	61190792	T	-	61190792	7	5	273	1	0	1	0	1	0	0	0	0	14349	1493	52	0	2356	0	SIX4	14	61190792	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	2078670	61190792	46158748	1297	138594											
HSPA2	3306	broad.mit.edu	37	chr14	65008759	65008759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggacctgctgctactcGacgtgaccccgttgtcgctg	12	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65008759G>A	uc001xhj.2	+	2	1268	c.1192G>A	c.(1192-1194)GAC>AAC	p.D398N	HSPA2_uc001xhk.3_Missense_Mutation_p.D398N	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	398					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCTGCTACTCGACGTGACCCC	0.622													A	65008759	G	A	65008759	3	1	273	1	0	0	0	0	1	0	0	0	7411	1058	37	1	1194	1	HSPA2	14	65008759	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3817967	65008759	42340781	1298	138595											
C14orf50	145376	broad.mit.edu	37	chr14	65019530	65019530	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatttcagttttctttctcAggtttgccgcagaagattct	7	8	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65019530A>G	uc001xhl.1	+	3	231	c.135_splice	c.e3-2	p.R45_splice		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376											skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		TTTCTTTCTCAGGTTTGCCGC	0.378													G	65019530	A	G	65019530	5	3	273	1	0	0	0	0	0	0	1	0	1777	202	7	3	143	3	C14orf50	14	65019530	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	10771	65019530	42330010	1299	138596											
PLEKHG3	26030	broad.mit.edu	37	chr14	65210188	65210188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctggaggacaaccggCgggtgattgtcatggagaag	15	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65210188C>T	uc001xho.1	+	17	3696	c.3427C>T	c.(3427-3429)CGG>TGG	p.R1143W	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R1087W|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R1264W|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R685W|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R648W	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1143					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGACAACCGGCGGGTGATTGT	0.667													T	65210188	C	T	65210188	3	4	273	1	0	0	0	0	1	0	0	0	12070	759	27	1	3313	1	PLEKHG3	14	65210188	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	190658	65210188	42139352	1300	138597											
FNTB	2342	broad.mit.edu	37	chr14	65494205	65494205	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggagctgtgtcagagcccaGaaggtggctttggaggagga	18	6	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65494205G>T	uc001xia.2	+	5	574	c.409G>T	c.(409-411)GAA>TAA	p.E137*	FNTB_uc010tsl.1_Nonsense_Mutation_p.E171*|FNTB_uc010tsm.1_Nonsense_Mutation_p.E91*|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_5'UTR|FNTB_uc010tso.1_Nonsense_Mutation_p.E52*	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	137	PFTB 1.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TCAGAGCCCAGAAGGTGGCTT	0.507													T	65494205	G	T	65494205	4	4	273	1	0	0	0	0	0	1	0	0	5978	943	33	5	427	5	FNTB	14	65494205	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	284017	65494205	41855335	1301	138598											
FNTB	2342	broad.mit.edu	37	chr14	65507587	65507587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccttctgtggcctggccGcgctggtaatcctcaagagg	12	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65507587G>A	uc001xia.2	+	8	937	c.772G>A	c.(772-774)GCG>ACG	p.A258T	FNTB_uc010tsl.1_Missense_Mutation_p.A292T|FNTB_uc010tsm.1_Missense_Mutation_p.A212T|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.A14T|FNTB_uc010tso.1_Missense_Mutation_p.A173T	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	258	PFTB 3.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGCCTGGCCGCGCTGGTAAT	0.522													A	65507587	G	A	65507587	3	1	273	1	0	0	0	0	1	0	0	0	5978	1087	38	1	802	1	FNTB	14	65507587	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	13382	65507587	41841953	1302	138599											
PLEKHH1	57475	broad.mit.edu	37	chr14	68023986	68023986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagatcattgtacttttcagGtgggtgtcatggaagagaag	14	4	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:68023986G>T	uc001xjl.1	+	4	332	c.190G>T	c.(190-192)GTG>TTG	p.V64L		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	64	Potential.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TACTTTTCAGGTGGGTGTCAT	0.498													T	68023986	G	T	68023986	3	4	273	1	0	0	0	0	1	0	0	0	12076	1275	44	5	200	5	PLEKHH1	14	68023986	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2516399	68023986	39325554	1303	138600											
C14orf169	79697	broad.mit.edu	37	chr14	73959333	73959333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctggagaacctgtaaacGtgggggcccagttgacaaca	14	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:73959333G>A	uc001xok.1	+	3	1691	c.1612G>A	c.(1612-1614)GTG>ATG	p.V538M	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	538					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		ACCTGTAAACGTGGGGGCCCA	0.517													A	73959333	G	A	73959333	3	1	273	1	0	0	0	0	1	0	0	0	1758	1132	40	1	1613	1	C14orf169	14	73959333	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5935347	73959333	33390207	1304	138601											
C14orf43	91748	broad.mit.edu	37	chr14	74203799	74203799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgttcaggacccttccCgtcctcatcaagacctccag	7	16	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:74203799C>T	uc001xot.2	-	3	2434	c.1651G>A	c.(1651-1653)GGG>AGG	p.G551R	C14orf43_uc001xou.2_Missense_Mutation_p.G551R|C14orf43_uc010tud.1_Missense_Mutation_p.G551R|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGACCCTTCCCGTCCTCATCA	0.597													T	74203799	C	T	74203799	3	4	273	1	0	0	0	0	1	0	0	0	1774	652	23	1	1526	1	C14orf43	14	74203799	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	244466	74203799	33145741	1305	138602											
C14orf43	91748	broad.mit.edu	37	chr14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-													tctgggttcatatctgggttGggggggaaggggtagggtgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:74205773delG	uc001xot.2	-	2	1722	c.939delC	c.(937-939)CCCfs	p.P313fs	C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TATCTGGGTTGGGGGGGAAGG	0.662													-	74205773	G	-	74205773	7	5	273	1	0	1	0	1	0	0	0	0	1774	1335	47	0	2242	0	C14orf43	14	74205773	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	1974	74205773	33143767	1306	138603											
ENTPD5	957	broad.mit.edu	37	chr14	74438596	74438596	+	Frame_Shift_Del	DEL	C	C	-													aatcttcaacttttaaaataCcccccttttcataatctgaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:74438596delC	uc010tuo.1	-	14	1354	c.1043delG	c.(1042-1044)GGTfs	p.G348fs	ENTPD5_uc001xpi.2_Frame_Shift_Del_p.G348fs	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	348					'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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TTTTAAAATACCCCCCTTTTC	0.378													-	74438596	C	-	74438596	7	5	273	1	0	1	0	1	0	0	0	0	5142	507	18	0	255	0	ENTPD5	14	74438596	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	232823	74438596	32910944	1307	138604											
YLPM1	56252	broad.mit.edu	37	chr14	75265970	75265970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaacaagaatcacagtttCgtgaacgggatattccatct	8	8	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75265970C>T	uc001xqj.3	+	5	4094	c.3970C>T	c.(3970-3972)CGT>TGT	p.R1324C	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1129	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATCACAGTTTCGTGAACGGGA	0.443													T	75265970	C	T	75265970	3	4	273	1	0	0	0	0	1	0	0	0	17483	884	31	1	3988	1	YLPM1	14	75265970	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	827374	75265970	32083570	1308	138605											
YLPM1	56252	broad.mit.edu	37	chr14	75301989	75301989	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagatgggcagacctggaaGagaagaaggatgcagatagg	16	5	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75301989G>A	uc001xqj.3	+	20	6440	c.6316G>A	c.(6316-6318)GAG>AAG	p.E2106K	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGACCTGGAAGAGAAGAAGGA	0.458													A	75301989	G	A	75301989	3	1	273	1	0	0	0	0	1	0	0	0	17483	943	33	4	6394	4	YLPM1	14	75301989	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	36019	75301989	32047551	1309	138606											
PROX2	283571	broad.mit.edu	37	chr14	75329625	75329625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatctagacgcttggccaGtgataaatttcctactggga	10	8	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75329625G>T	uc001xqr.1	-	1	913	c.913C>A	c.(913-915)CTG>ATG	p.L305M	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	305					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CGCTTGGCCAGTGATAAATTT	0.552													T	75329625	G	T	75329625	3	4	273	1	0	0	0	0	1	0	0	0	12561	1020	36	5	881	5	PROX2	14	75329625	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	27636	75329625	32019915	1310	138607											
PROX2	283571	broad.mit.edu	37	chr14	75329843	75329843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcctgggacactgccCtggtcagctctttcctcaga	9	16	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75329843C>A	uc001xqr.1	-	1	695	c.695G>T	c.(694-696)AGG>ATG	p.R232M	PROX2_uc001xqq.1_Missense_Mutation_p.R158M	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	232					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGACACTGCCCTGGTCAGCTC	0.547													A	75329843	C	A	75329843	3	1	273	1	0	0	0	0	1	0	0	0	12561	681	24	5	1099	5	PROX2	14	75329843	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	218	75329843	32019697	1311	138608											
C14orf166B	145497	broad.mit.edu	37	chr14	77292883	77292883	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctactcttcccagggcttgCtgggagggaaggataactgc	13	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:77292883C>A	uc001xsx.2	+	1	159	c.45C>A	c.(43-45)TGC>TGA	p.C15*	C14orf166B_uc010asn.1_Translation_Start_Site|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	hypothetical protein LOC145497	15											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CCAGGGCTTGCTGGGAGGGAA	0.537													A	77292883	C	A	77292883	4	1	273	1	0	0	0	0	0	1	0	0	1757	805	28	5	47	5	C14orf166B	14	77292883	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1963040	77292883	30056657	1312	138609											
KIAA1737	85457	broad.mit.edu	37	chr14	77580621	77580621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggtccagtaatacagGcagtgacctagaagcattct	10	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:77580621G>A	uc001xtd.2	+	4	1339	c.1160G>A	c.(1159-1161)GGC>GAC	p.G387D	KIAA1737_uc001xtc.1_Missense_Mutation_p.G289D	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	387											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGTAATACAGGCAGTGACCTA	0.488													A	77580621	G	A	77580621	3	1	273	1	0	0	0	0	1	0	0	0	8255	1203	42	2	1170	2	KIAA1737	14	77580621	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	287738	77580621	29768919	1313	138610											
SNW1	22938	broad.mit.edu	37	chr14	78203418	78203418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctgagatggtgtgtaTctgaagaaagcagataaaaa	11	5	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:78203418T>C	uc001xuf.2	-	6	561	c.534A>G	c.(532-534)CGA>CGG	p.R178R	SNW1_uc010tvm.1_Silent_p.R103R|SNW1_uc010asu.2_Silent_p.R16R|SNW1_uc010tvn.1_Silent_p.R178R	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	178	SNW.				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			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATGGTGTGTATCTGAAGAAAG	0.388													C	78203418	T	C	78203418	2	2	273	1	0	0	0	0	0	0	0	1	14879	1449	50	3		3	SNW1	14	78203418	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	622797	78203418	29146122	1314	138611											
NRXN3	9369	broad.mit.edu	37	chr14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaggcaacagtgaccGccccctgaatgacaaccagt	9	13	1	3	rs140528152		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:79433613G>A	uc001xun.2	+	10	2212	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R699H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	947	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423													A	79433613	G	A	79433613	3	1	273	1	0	0	0	0	1	0	0	0	10667	1087	38	1	1751	1	NRXN3	14	79433613	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1230195	79433613	27915927	1315	138612											
KCNK10	54207	broad.mit.edu	37	chr14	88652118	88652118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaaggtctttttgaggtCcttgtttttcctcttggtga	12	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:88652118C>T	uc001xwo.2	-	7	1835	c.1378G>A	c.(1378-1380)GAC>AAC	p.D460N	KCNK10_uc001xwm.2_Missense_Mutation_p.D465N|KCNK10_uc001xwn.2_Missense_Mutation_p.D465N	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	460	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						TTTTTGAGGTCCTTGTTTTTC	0.527													T	88652118	C	T	88652118	3	4	273	1	0	0	0	0	1	0	0	0	8059	855	30	4	242	4	KCNK10	14	88652118	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	9218505	88652118	18697422	1316	138613											
TTC8	123016	broad.mit.edu	37	chr14	89307467	89307467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcactatggaacaggctaTcagaacacccagaaccgcct	9	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:89307467T>G	uc010ath.2	+	4	520	c.386T>G	c.(385-387)ATC>AGC	p.I129S	TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.I129S|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.I139S|TTC8_uc001xxj.2_Missense_Mutation_p.I129S|TTC8_uc001xxk.2_Missense_Mutation_p.I129S	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	139					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						GAACAGGCTATCAGAACACCC	0.532									Bardet-Biedl_syndrome				G	89307467	T	G	89307467	3	3	273	1	0	0	0	0	1	0	0	0	16711	1435	50	5	434	5	TTC8	14	89307467	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	655349	89307467	18042073	1317	138614											
FOXN3	1112	broad.mit.edu	37	chr14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-													tgtcagagtgggcaggggatGggggggtgtcatcgtccagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:89878534delG	uc001xxo.3	-	2	424	c.287delC	c.(286-288)CCAfs	p.P96fs	FOXN3_uc001xxn.3_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.2_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	96					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			skin(2)|ovary(1)	3						GGCAGGGGATGGGGGGGTGTC	0.592													-	89878534	G	-	89878534	7	5	273	1	0	1	0	1	0	0	0	0	6021	1348	47	0	1209	0	FOXN3	14	89878534	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	571067	89878534	17471006	1318	138615											
RPS6KA5	9252	broad.mit.edu	37	chr14	91369214	91369214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagtgggatccatttctgTgaactcttctgcaaagttac	8	8	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:91369214T>C	uc001xys.2	-	9	1272	c.1057A>G	c.(1057-1059)ACA>GCA	p.T353A	RPS6KA5_uc010twi.1_Missense_Mutation_p.T274A|RPS6KA5_uc001xyt.2_Missense_Mutation_p.T353A|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	353	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			ovary(1)	1		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)		TCCATTTCTGTGAACTCTTCT	0.443													C	91369214	T	C	91369214	3	2	273	1	0	0	0	0	1	0	0	0	13654	1696	59	3	1393	3	RPS6KA5	14	91369214	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1490680	91369214	15980326	1319	138616											
SERPINA11	256394	broad.mit.edu	37	chr14	94914898	94914898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggcgagaagaagatgtTtccgggggcgtctgctgcca	15	10	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:94914898T>C	uc001ydd.1	-	2	274	c.214A>G	c.(214-216)AAC>GAC	p.N72D		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	72					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		AAGAAGATGTTTCCGGGGGCG	0.567													C	94914898	T	C	94914898	3	2	273	1	0	0	0	0	1	0	0	0	14088	1841	64	3	1070	3	SERPINA11	14	94914898	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3545684	94914898	12434642	1320	138617											
DICER1	23405	broad.mit.edu	37	chr14	95557591	95557591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagactgtctccagtgAcatcccactatccatgtaaa	6	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:95557591A>G	uc001ydw.2	-	26	5658	c.5476T>C	c.(5476-5478)TCA>CCA	p.S1826P	DICER1_uc010avh.1_Missense_Mutation_p.S724P|DICER1_uc001ydv.2_Missense_Mutation_p.S1816P|DICER1_uc001ydx.2_Missense_Mutation_p.S1826P	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1826					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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTCTCCAGTGACATCCCACTA	0.433			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				G	95557591	A	G	95557591	3	3	273	1	0	0	0	0	1	0	0	0	4521	275	10	3	304	3	DICER1	14	95557591	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	642693	95557591	11791949	1321	138618											
DICER1	23405	broad.mit.edu	37	chr14	95574665	95574665	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attatgaaatacctacctgaGgtatgggtttggccgtcagt	11	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:95574665G>T	uc001ydw.2	-	16	2614	c.2432C>A	c.(2431-2433)CCT>CAT	p.P811H	DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.P801H|DICER1_uc001ydx.2_Missense_Mutation_p.P811H	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	811					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			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACCTACCTGAGGTATGGGTTT	0.383			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				T	95574665	G	T	95574665	3	4	273	1	0	0	0	0	1	0	0	0	4521	1000	35	5	3388	5	DICER1	14	95574665	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	17074	95574665	11774875	1322	138619											
BCL11B	64919	broad.mit.edu	37	chr14	99697710	99697710	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacactggcatccaaagggAgcctccgtctgaccctcacc	9	16	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:99697710A>C	uc001yga.2	-	3	879	c.612T>G	c.(610-612)GCT>GCG	p.A204A	BCL11B_uc001ygb.2_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	204						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ATCCAAAGGGAGCCTCCGTCT	0.721			T	TLX3	T-ALL								C	99697710	A	C	99697710	2	2	273	1	0	0	0	0	0	0	0	1	1364	291	11	5		5	BCL11B	14	99697710	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4123045	99697710	7651830	1323	138620											
CYP46A1	10858	broad.mit.edu	37	chr14	100192567	100192567	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccctgggccaccgcTcctgcatcgggcagcagttt	10	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:100192567T>A	uc001ygo.2	+	14	1306	c.1306T>A	c.(1306-1308)TCC>ACC	p.S436T	CYP46A1_uc001ygp.2_Missense_Mutation_p.S273T	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	436					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				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGGCCACCGCTCCTGCATCGG	0.642													A	100192567	T	A	100192567	3	1	273	1	0	0	0	0	1	0	0	0	4182	1551	54	5	1360	5	CYP46A1	14	100192567	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	494857	100192567	7156973	1324	138621											
DIO3	1735	broad.mit.edu	37	chr14	102028063	102028063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctgggccgccgccgccGggggcagcccgagcccgaag	16	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:102028063G>A	uc010txq.1	+	1	376	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	51	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				CGCCGCCGCCGGGGGCAGCCC	0.657													A	102028063	G	A	102028063	3	1	273	1	0	0	0	0	1	0	0	0	4526	1116	39	1	232	1	DIO3	14	102028063	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1835496	102028063	5321477	1325	138622											
DYNC1H1	1778	broad.mit.edu	37	chr14	102455091	102455091	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctgagagcttggacgCaggttcttcttggacaagct	13	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:102455091C>T	uc001yks.2	+	10	2934	c.2770C>T	c.(2770-2772)CAG>TAG	p.Q924*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	924	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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGCTTGGACGCAGGTTCTTCT	0.448													T	102455091	C	T	102455091	4	4	273	1	0	0	0	0	0	1	0	0	4841	711	25	2	2808	2	DYNC1H1	14	102455091	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	427028	102455091	4894449	1326	138623											
DYNC1H1	1778	broad.mit.edu	37	chr14	102493762	102493762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactttgatgaagatctaCggacagtgttgagacgttct	11	6	2	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:102493762C>T	uc001yks.2	+	46	9093	c.8929C>T	c.(8929-8931)CGG>TGG	p.R2977W		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2977	AAA 4 (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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGAAGATCTACGGACAGTGTT	0.423													T	102493762	C	T	102493762	3	4	273	1	0	0	0	0	1	0	0	0	4841	527	19	1	9111	1	DYNC1H1	14	102493762	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	38671	102493762	4855778	1327	138624											
CDC42BPB	9578	broad.mit.edu	37	chr14	103447224	103447224	+	Frame_Shift_Del	DEL	A	A	-													ttttcccaatttagaccttcAaaaaacgcatgctttttgaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:103447224delA	uc001ymi.1	-	8	1258	c.1026delT	c.(1024-1026)TTTfs	p.F342fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	342	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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTAGACCTTCAAAAAACGCAT	0.458													-	103447224	A	-	103447224	7	5	273	1	0	1	0	1	0	0	0	0	3073	127	5	0	4229	0	CDC42BPB	14	103447224	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	953462	103447224	3902316	1328	138625											
ASPG	374569	broad.mit.edu	37	chr14	104573661	104573661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggatggcttcagcccgcTgctgctggccgtgcggggca	16	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:104573661T>C	uc001yoq.1	+	12	1472	c.1412T>C	c.(1411-1413)CTG>CCG	p.L471P	ASPG_uc001yoo.1_Missense_Mutation_p.L499P|ASPG_uc001yop.1_Missense_Mutation_p.L471P|ASPG_uc001yor.1_Missense_Mutation_p.L471P	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	471	ANK 4.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						TTCAGCCCGCTGCTGCTGGCC	0.672													C	104573661	T	C	104573661	3	2	273	1	0	0	0	0	1	0	0	0	1052	1580	55	3	1458	3	ASPG	14	104573661	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1126437	104573661	2775879	1329	138626											
JAG2	3714	broad.mit.edu	37	chr14	105613019	105613019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgatctcatccacacacGtggccccgtaggcacagggc	11	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:105613019G>A	uc001yqg.2	-	21	2926	c.2522C>T	c.(2521-2523)ACG>ATG	p.T841M	JAG2_uc010axf.2_Translation_Start_Site|JAG2_uc001yqf.2_Missense_Mutation_p.T245M|JAG2_uc001yqh.2_Missense_Mutation_p.T803M	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	841	Extracellular (Potential).|EGF-like 16; calcium-binding (Potential).				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			lung(3)|breast(2)	5		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)		ATCCACACACGTGGCCCCGTA	0.682													A	105613019	G	A	105613019	3	1	273	1	0	0	0	0	1	0	0	0	7935	1145	40	1	1218	1	JAG2	14	105613019	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1039358	105613019	1736521	1330	138627											
OR4M2	390538	broad.mit.edu	37	chr15	22369163	22369163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaacaccttcccagaggaGttagtgatgatctgtagtag	11	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:22369163G>T	uc010tzu.1	+	1	588	c.588G>T	c.(586-588)GAG>GAT	p.E196D	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		TCCCAGAGGAGTTAGTGATGA	0.463													T	22369163	G	T	22369163	3	4	273	1	0	0	0	0	1	0	0	0	11076	1020	36	5	590	5	OR4M2	15	22369163	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		22369163	80162229	1331	138628											
MKRN3	7681	broad.mit.edu	37	chr15	23810931	23810931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggggtgccaaagcagccaTggaagagcctgcagctccct	13	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:23810931T>C	uc001ywh.3	+	1	478	c.2T>C	c.(1-3)ATG>ACG	p.M1T	MKRN3_uc001ywi.2_Missense_Mutation_p.M1T|MKRN3_uc010ayi.1_Missense_Mutation_p.M1T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	1						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		AAAGCAGCCATGGAAGAGCCT	0.642													C	23810931	T	C	23810931	3	2	273	1	0	0	0	0	1	0	0	0	9608	1464	51	3	4	3	MKRN3	15	23810931	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1441768	23810931	78720461	1332	138629											
C15orf2	23742	broad.mit.edu	37	chr15	24922369	24922369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccacaccaaaaatggatgAgaaaatagcattcacaatcc	5	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:24922369A>G	uc001ywo.2	+	1	1829	c.1355A>G	c.(1354-1356)GAG>GGG	p.E452G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	452	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAAATGGATGAGAAAATAGCA	0.493													G	24922369	A	G	24922369	3	3	273	1	0	0	0	0	1	0	0	0	1784	304	11	3	1357	3	C15orf2	15	24922369	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1111438	24922369	77609023	1333	138630											
APBA2	321	broad.mit.edu	37	chr15	29406136	29406136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgtccgtgtgggccacCgcatcatcgagatcaacggg	16	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:29406136C>T	uc001zck.2	+	13	2302	c.2095C>T	c.(2095-2097)CGC>TGC	p.R699C	APBA2_uc010uat.1_Missense_Mutation_p.R687C|APBA2_uc001zcl.2_Missense_Mutation_p.R687C	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	699	PDZ 2.				nervous system development|protein transport		protein binding				0		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)		TGTGGGCCACCGCATCATCGA	0.607													T	29406136	C	T	29406136	3	4	273	1	0	0	0	0	1	0	0	0	757	652	23	1	2137	1	APBA2	15	29406136	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4483767	29406136	73125256	1334	138631											
TJP1	7082	broad.mit.edu	37	chr15	30018641	30018641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaattgcttctttcagcGcaccataccaaccatcattc	5	13	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:30018641G>A	uc001zcr.2	-	18	2829	c.2354C>T	c.(2353-2355)GCG>GTG	p.A785V	TJP1_uc010azl.2_Missense_Mutation_p.A773V|TJP1_uc001zcq.2_Missense_Mutation_p.A789V|TJP1_uc001zcs.2_Missense_Mutation_p.A785V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	785					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		TTCTTTCAGCGCACCATACCA	0.348													A	30018641	G	A	30018641	3	1	273	1	0	0	0	0	1	0	0	0	15926	1087	38	1	2936	1	TJP1	15	30018641	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	612505	30018641	72512751	1335	138632											
MTMR15	22909	broad.mit.edu	37	chr15	31214442	31214442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattgttgcaataggaagCcgtcagagaacttgaaagcc	11	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:31214442C>T	uc001zff.2	+	8	2348	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	MTMR15_uc001zfe.2_Missense_Mutation_p.A291V	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	686	Potential.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		CAATAGGAAGCCGTCAGAGAA	0.408								Direct_reversal_of_damage|Editing_and_processing_nucleases					T	31214442	C	T	31214442	3	4	273	1	0	0	0	0	1	0	0	0	9943	739	26	2	2108	2	MTMR15	15	31214442	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1195801	31214442	71316950	1336	138633											
RYR3	6263	broad.mit.edu	37	chr15	33941292	33941292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctactacgccatccGcatctttgctggacaggatc	10	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:33941292G>T	uc001zhi.2	+	31	4068	c.3998G>T	c.(3997-3999)CGC>CTC	p.R1333L	RYR3_uc010bar.2_Missense_Mutation_p.R1333L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1333	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TACGCCATCCGCATCTTTGCT	0.527													T	33941292	G	T	33941292	3	4	273	1	0	0	0	0	1	0	0	0	13770	1087	38	5	4120	5	RYR3	15	33941292	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2726850	33941292	68590100	1337	138634											
RYR3	6263	broad.mit.edu	37	chr15	34040387	34040387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggctggactgtggagAggaccaaagagggagaagct	18	6	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:34040387A>G	uc001zhi.2	+	54	8132	c.8062A>G	c.(8062-8064)AGG>GGG	p.R2688G	RYR3_uc010bar.2_Missense_Mutation_p.R2688G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2688	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		GACTGTGGAGAGGACCAAAGA	0.532													G	34040387	A	G	34040387	3	3	273	1	0	0	0	0	1	0	0	0	13770	295	11	3	8276	3	RYR3	15	34040387	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	99095	34040387	68491005	1338	138635											
C15orf52	388115	broad.mit.edu	37	chr15	40629609	40629609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctgctgcctgccctgGccgggccttctcccctcagc	9	21	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:40629609G>A	uc001zlh.3	-	7	870	c.854C>T	c.(853-855)GCC>GTC	p.A285V	C15orf52_uc001zli.1_Missense_Mutation_p.A217V|C15orf52_uc010ucn.1_Missense_Mutation_p.A75V	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	285										large_intestine(1)	1		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCTGCCCTGGCCGGGCCTTC	0.617													A	40629609	G	A	40629609	3	1	273	1	0	0	0	0	1	0	0	0	1800	1203	42	2	770	2	C15orf52	15	40629609	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6589222	40629609	61901783	1339	138636											
IVD	3712	broad.mit.edu	37	chr15	40703818	40703818	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggccctgatgctgacgtcctGattgtctatgccaagacaga	11	11	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:40703818G>T	uc001zls.3	+	6	958	c.624G>T	c.(622-624)CTG>CTT	p.L208L	IVD_uc001zlq.2_Silent_p.L178L	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	205					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		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)		CTGACGTCCTGATTGTCTATG	0.517													T	40703818	G	T	40703818	2	4	273	1	0	0	0	0	0	0	0	1	7928	1277	45	5		5	IVD	15	40703818	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	74209	40703818	61827574	1340	138637											
SPINT1	6692	broad.mit.edu	37	chr15	41149029	41149029	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgtggtggtggtagccatCttgggttactgcttcttcaa	12	7	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:41149029C>T	uc001zna.2	+	11	1650	c.1446C>T	c.(1444-1446)ATC>ATT	p.I482I	SPINT1_uc001znb.2_Silent_p.I466I|SPINT1_uc001znc.2_Silent_p.I466I|SPINT1_uc010ucs.1_Silent_p.I473I	NM_181642	NP_857593	O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	482						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		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)		TGGTAGCCATCTTGGGTTACT	0.587													T	41149029	C	T	41149029	2	4	273	1	0	0	0	0	0	0	0	1	15067	903	32	4		4	SPINT1	15	41149029	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	445211	41149029	61382363	1341	138638											
RPAP1	26015	broad.mit.edu	37	chr15	41814328	41814328	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcgagtgccaggtactGcaggtggtactcatggcgca	15	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:41814328G>A	uc001zod.2	-	20	2987	c.2863C>T	c.(2863-2865)CAG>TAG	p.Q955*	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	955	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCAGGTACTGCAGGTGGTAC	0.592													A	41814328	G	A	41814328	4	1	273	1	0	0	0	0	0	1	0	0	13541	1328	46	2	1342	2	RPAP1	15	41814328	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	665299	41814328	60717064	1342	138639											
JMJD7-PLA2G4B	8681	broad.mit.edu	37	chr15	42138484	42138484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttttcaccgatcttctgAcgtggcgtccactggcccag	10	13	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42138484A>G	uc010bco.2	+	17	1785	c.1684A>G	c.(1684-1686)ACG>GCG	p.T562A	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.T793A|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.T793A|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.T263A|JMJD7-PLA2G4B_uc001zor.1_3'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	562	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			large_intestine(1)	1						CGATCTTCTGACGTGGCGTCC	0.527													G	42138484	A	G	42138484	3	3	273	1	0	0	0	0	1	0	0	0	7955	275	10	3	2463	3	JMJD7-PLA2G4B	15	42138484	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	324156	42138484	60392908	1343	138640											
SPTBN5	51332	broad.mit.edu	37	chr15	42167711	42167711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggagctcgtccccaCgctcagtcatcttgcggttc	10	16	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42167711C>T	uc001zos.2	-	22	4460	c.4127G>A	c.(4126-4128)CGT>CAT	p.R1376H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1411	Spectrin 10.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		CTCGTCCCCACGCTCAGTCAT	0.607													T	42167711	C	T	42167711	3	4	273	1	0	0	0	0	1	0	0	0	15121	536	19	1	6980	1	SPTBN5	15	42167711	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	29227	42167711	60363681	1344	138641											
PLA2G4E	123745	broad.mit.edu	37	chr15	42276068	42276069	+	Frame_Shift_Ins	INS	-	-	AA													gagagtttcaccagcttgtcINSaaaggtggcctctgtgtatg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42276068_42276069insAA	uc001zow.1	-	19	2403_2404	c.2403_2404insTT	c.(2401-2406)TTTGACfs	p.F801fs	PLA2G4E_uc010udc.1_Frame_Shift_Ins_p.F273fs|PLA2G4E_uc001zov.1_Frame_Shift_Ins_p.F454fs	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	818_819	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		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)		ACCAGCTTGTCAAAGGTGGCCT	0.535													AA	42276069	-	AA	42276068	7	5	273	1	0	1	1	0	0	0	0	0	12005	826	29	0	119	0	PLA2G4E	15	42276068	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	108357	42276068	60255324	1345	138642	736	2									
PLA2G4E	123745	broad.mit.edu	37	chr15	42276069	42276070	+	Frame_Shift_Ins	INS	-	-	AA													agagtttcaccagcttgtcaINSaaggtggcctctgtgtatgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42276068_42276069C>CAA	uc021sjp.1	-	19	2490_2491	c.2490_2491G>TTG	c.(2488-2493)tttgacfs	p.F830fs	PLA2G4E_uc010udc.2_Frame_Shift_Ins_p.F273fs|PLA2G4E_uc001zov.2_Frame_Shift_Ins_p.F454fs	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	818	PLA2c.				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)		ACCAGCTTGTCAAAGGTGGCCT	0.535													AA	42276070	-	AA	42276069	7	5	273	1	0	1	1	0	0	0	0	0	12005	127	5	0	120	0	PLA2G4E	15	42276069	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	42276069	60255323	1346	138643	736	2									
CAPN3	825	broad.mit.edu	37	chr15	42703095	42703095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaggattccacctcaaCaaccagctctatgacatcat	4	15	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42703095C>T	uc001zpn.1	+	22	2583	c.2277C>T	c.(2275-2277)AAC>AAT	p.N759N	CAPN3_uc001zpk.1_Silent_p.N526N|CAPN3_uc001zpl.1_Silent_p.N666N|CAPN3_uc010udf.1_Silent_p.N672N|CAPN3_uc010udg.1_Silent_p.N624N|CAPN3_uc001zpo.1_Silent_p.N753N|CAPN3_uc001zpp.1_Silent_p.N667N|CAPN3_uc001zpq.1_Silent_p.N247N|CAPN3_uc010bcv.1_Silent_p.N94N|CAPN3_uc001zpr.1_Silent_p.N94N|CAPN3_uc001zps.1_Silent_p.N94N|CAPN3_uc001zpt.1_Silent_p.N94N	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	759	Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCCACCTCAACAACCAGCTCT	0.532													T	42703095	C	T	42703095	2	4	273	1	0	0	0	0	0	0	0	1	2628	477	17	4		4	CAPN3	15	42703095	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	427026	42703095	59828297	1347	138644											
CDAN1	146059	broad.mit.edu	37	chr15	43028229	43028229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggcttggagagtgacCgctcttcgctcaccggagtt	13	11	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:43028229C>T	uc001zql.2	-	3	734	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	206						integral to membrane	protein binding			ovary(2)	2		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)		GGAGAGTGACCGCTCTTCGCT	0.567													T	43028229	C	T	43028229	3	4	273	1	0	0	0	0	1	0	0	0	3054	652	23	1	3170	1	CDAN1	15	43028229	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	325134	43028229	59503163	1348	138645											
TGM5	9333	broad.mit.edu	37	chr15	43552729	43552729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcctccgtgtggtgcCgcacattatttctggagctc	10	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:43552729C>T	uc001zrd.1	-	2	67	c.59G>A	c.(58-60)CGG>CAG	p.R20Q	TGM5_uc001zre.1_Missense_Mutation_p.R20Q	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	20					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		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)	CGTGTGGTGCCGCACATTATT	0.582													T	43552729	C	T	43552729	3	4	273	1	0	0	0	0	1	0	0	0	15830	652	23	1	2151	1	TGM5	15	43552729	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	524500	43552729	58978663	1349	138646											
TP53BP1	7158	broad.mit.edu	37	chr15	43714075	43714075	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttcctgggcctcctcGggagctgggtaaggcaaaat	13	10	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:43714075G>A	uc001zrs.2	-	19	4211	c.4063C>T	c.(4063-4065)CGA>TGA	p.R1355*	TP53BP1_uc010udp.1_Nonsense_Mutation_p.R1355*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.R1360*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.R1360*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.R1360*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1355					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			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		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)		GGGCCTCCTCGGGAGCTGGGT	0.567								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					A	43714075	G	A	43714075	4	1	273	1	0	0	0	0	0	1	0	0	16380	1124	39	1	1895	1	TP53BP1	15	43714075	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	161346	43714075	58817317	1350	138647											
EIF3J	8669	broad.mit.edu	37	chr15	44849810	44849811	+	Frame_Shift_Ins	INS	-	-	T													aagtcactatattatgccagINSttttttggaagtcttagttc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:44849810_44849811insT	uc001ztv.2	+	6	660_661	c.533_534insT	c.(532-534)AGTfs	p.S178fs	EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Frame_Shift_Ins_p.S129fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	178						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TATTATGCCAGTTTTTTGGAAG	0.337													T	44849811	-	T	44849810	7	5	273	1	0	1	1	0	0	0	0	0	5020	1029	36	0	555	0	EIF3J	15	44849810	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1135735	44849810	57681582	1351	138648	737	2									
EIF3J	8669	broad.mit.edu	37	chr15	44849811	44849812	+	Frame_Shift_Ins	INS	-	-	T													agtcactatattatgccagtINStttttggaagtcttagttcg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:44849810_44849811G>GT	uc001ztv.3	+	5	660_661	c.533_534G>GT	c.(532-534)agtfs	p.S178fs	EIF3J_uc010ueg.2_Intron	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	178						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TATTATGCCAGTTTTTTGGAAG	0.337													T	44849812	-	T	44849811	7	5	273	1	0	1	1	0	0	0	0	0	5020	1722	60	0	556	0	EIF3J	15	44849811	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	44849811	57681581	1352	138649	737	2									
TRIM69	140691	broad.mit.edu	37	chr15	45047120	45047120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaccaacccctcctccaAcatcgatccaggcgactatg	5	18	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:45047120A>G	uc001zuf.2	+	3	924	c.29A>G	c.(28-30)AAC>AGC	p.N10S	TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.N10S|TRIM69_uc001zuh.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	10	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCCTCCTCCAACATCGATCCA	0.433													G	45047120	A	G	45047120	3	3	273	1	0	0	0	0	1	0	0	0	16539	43	2	3	35	3	TRIM69	15	45047120	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	197309	45047120	57484272	1353	138650											
DUOX1	53905	broad.mit.edu	37	chr15	45444669	45444669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgcccttcgacgccgccGtggacttccatcgcctcatt	9	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:45444669G>A	uc001zus.1	+	26	3725	c.3379G>A	c.(3379-3381)GTG>ATG	p.V1127M	DUOX1_uc001zut.1_Missense_Mutation_p.V1127M|DUOX1_uc010bee.1_Missense_Mutation_p.V507M|DUOX1_uc001zuu.2_Missense_Mutation_p.V269M	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1127	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				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			ovary(5)|skin(2)|breast(1)	8		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)		CGACGCCGCCGTGGACTTCCA	0.622													A	45444669	G	A	45444669	3	1	273	1	0	0	0	0	1	0	0	0	4800	1145	40	1	3473	1	DUOX1	15	45444669	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	397549	45444669	57086723	1354	138651											
FBN1	2200	broad.mit.edu	37	chr15	48808388	48808388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattcttacttggtggcTcccgagatggatacagatat	10	7	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:48808388T>C	uc001zwx.1	-	11	1647	c.1319A>G	c.(1318-1320)GAG>GGG	p.E440G		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	440	Pro-rich.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTTGGTGGCTCCCGAGATGG	0.398													C	48808388	T	C	48808388	3	2	273	1	0	0	0	0	1	0	0	0	5702	1551	54	3	7520	3	FBN1	15	48808388	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3363719	48808388	53723004	1355	138652											
DTWD1	56986	broad.mit.edu	37	chr15	49935572	49935572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaaaaacttgcttttggCgccatcaaaaaggaaagcca	8	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:49935572C>T	uc001zxq.2	+	6	989	c.712C>T	c.(712-714)CGC>TGC	p.R238C	DTWD1_uc001zxs.2_Missense_Mutation_p.R238C|DTWD1_uc001zxr.2_Missense_Mutation_p.R151C|DTWD1_uc001zxo.2_Missense_Mutation_p.R238C	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	238											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTGCTTTTGGCGCCATCAAAA	0.269													T	49935572	C	T	49935572	3	4	273	1	0	0	0	0	1	0	0	0	4791	768	27	1	726	1	DTWD1	15	49935572	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1127184	49935572	52595820	1356	138653											
ATP8B4	79895	broad.mit.edu	37	chr15	50158588	50158588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaaagatgccattacTgtgcattgtaaataaaatgg	9	6	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:50158588T>C	uc001zxu.2	-	26	3263	c.3121A>G	c.(3121-3123)AGT>GGT	p.S1041G	ATP8B4_uc010ber.2_Missense_Mutation_p.S914G|ATP8B4_uc010ufd.1_Missense_Mutation_p.S851G|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.S44G	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1041	Extracellular (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATGCCATTACTGTGCATTGTA	0.403													C	50158588	T	C	50158588	3	2	273	1	0	0	0	0	1	0	0	0	1197	1580	55	3	469	3	ATP8B4	15	50158588	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	223016	50158588	52372804	1357	138654											
TRPM7	54822	broad.mit.edu	37	chr15	50901876	50901876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgtatctccatctcatTctttccttcattactatcca	1	13	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:50901876T>G	uc001zyt.3	-	19	2746	c.2482A>C	c.(2482-2484)AAT>CAT	p.N828H	TRPM7_uc010bew.1_Missense_Mutation_p.N828H|TRPM7_uc001zyu.2_Missense_Mutation_p.N386H	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	828	Extracellular (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCATCTCATTCTTTCCTTCA	0.279													G	50901876	T	G	50901876	3	3	273	1	0	0	0	0	1	0	0	0	16588	1783	62	5	3199	5	TRPM7	15	50901876	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	743288	50901876	51629516	1358	138655											
SPPL2A	84888	broad.mit.edu	37	chr15	51028402	51028402	+	Splice_Site	DEL	A	A	-													ttgccacgacatgcaatcctAaaaaacagattaaaatagtt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:51028401_51028401TA>T	uc001zyv.3	-	8	1011	c.831_splice	c.e8-1	p.T277_splice		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	277						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)		CATGCAATCCTAAAAAACAGA	0.358													-	51028402	A	-	51028402	8	5	273	1	0	1	0	1	0	0	1	0	15087	377	13	0		0	SPPL2A	15	51028402	Splice_Site	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	126526	51028402	51502990	1359	138656											
MYO5A	4644	broad.mit.edu	37	chr15	52699556	52699556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccactccttcaatcacaggActgcctccttgttttgtgta	6	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:52699556A>G	uc002aby.2	-	8	1123	c.879T>C	c.(877-879)AGT>AGC	p.S293S	MYO5A_uc002abx.3_Silent_p.S293S|MYO5A_uc010uge.1_Silent_p.S162S	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	293	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAATCACAGGACTGCCTCCTT	0.383													G	52699556	A	G	52699556	2	3	273	1	0	0	0	0	0	0	0	1	10078	272	10	3		3	MYO5A	15	52699556	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1671154	52699556	49831836	1360	138657											
PYGO1	26108	broad.mit.edu	37	chr15	55838364	55838364	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataagctgtttcagtcattcCagtacagatccgatgaaacc	7	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:55838364C>A	uc010bfl.1	-	3	1173	c.1117G>T	c.(1117-1119)GGA>TGA	p.G373*	PYGO1_uc002adf.1_Nonsense_Mutation_p.G373*	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	373	PHD-type.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TCAGTCATTCCAGTACAGATC	0.448													A	55838364	C	A	55838364	4	1	273	1	0	0	0	0	0	1	0	0	12863	603	21	5	146	5	PYGO1	15	55838364	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3138808	55838364	46693028	1361	138658											
FOXB1	27023	broad.mit.edu	37	chr15	60297413	60297413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggaccagccaggcaaggGcagcttctgggcgctgcacc	15	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:60297413G>A	uc002agj.1	+	2	730	c.251G>A	c.(250-252)GGC>GAC	p.G84D	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	84	Fork-head.				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			ovary(1)|central_nervous_system(1)	2						CCAGGCAAGGGCAGCTTCTGG	0.637													A	60297413	G	A	60297413	3	1	273	1	0	0	0	0	1	0	0	0	5992	1203	42	2	253	2	FOXB1	15	60297413	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4459049	60297413	42233979	1362	138659											
VPS13C	54832	broad.mit.edu	37	chr15	62261496	62261496	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctatttttatgggtattAccttcaatttcatgataatc	4	6	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:62261496A>G	uc002agz.2	-	28	2985	c.2911_splice	c.e28+1	p.G971_splice	VPS13C_uc002aha.2_Splice_Site_p.G928_splice|VPS13C_uc002ahb.1_Splice_Site_p.G971_splice|VPS13C_uc002ahc.1_Splice_Site_p.G928_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2						TATGGGTATTACCTTCAATTT	0.269													G	62261496	A	G	62261496	5	3	273	1	0	0	0	0	0	0	1	0	17188	405	14	3	8608	3	VPS13C	15	62261496	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1964083	62261496	40269896	1363	138660											
VPS13C	54832	broad.mit.edu	37	chr15	62264932	62264932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaagtctgtggttctccAtcttcagcatcaaaatactc	5	11	5	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:62264932A>G	uc002agz.2	-	27	2723	c.2649T>C	c.(2647-2649)GAT>GAC	p.D883D	VPS13C_uc002aha.2_Silent_p.D840D|VPS13C_uc002ahb.1_Silent_p.D883D|VPS13C_uc002ahc.1_Silent_p.D840D	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	883					protein localization					ovary(2)	2						GTGGTTCTCCATCTTCAGCAT	0.353													G	62264932	A	G	62264932	2	3	273	1	0	0	0	0	0	0	0	1	17188	214	8	3		3	VPS13C	15	62264932	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3436	62264932	40266460	1364	138661											
TLN2	83660	broad.mit.edu	37	chr15	62939540	62939540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccttaaagatttgtgtgCgccactgcaacgtggtgaag	12	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:62939540C>T	uc002alb.3	+	1	31	c.31C>T	c.(31-33)CGC>TGC	p.R11C	MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	11					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GATTTGTGTGCGCCACTGCAA	0.488													T	62939540	C	T	62939540	3	4	273	1	0	0	0	0	1	0	0	0	15945	768	27	1	33	1	TLN2	15	62939540	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	674608	62939540	39591852	1365	138662											
TLN2	83660	broad.mit.edu	37	chr15	63031561	63031561	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagctacctccaagcacGaagcctttccaggaagccca	7	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63031561G>A	uc002alb.3	+	28	3702	c.3702G>A	c.(3700-3702)ACG>ACA	p.T1234T	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1234					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			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CTCCAAGCACGAAGCCTTTCC	0.572													A	63031561	G	A	63031561	2	1	273	1	0	0	0	0	0	0	0	1	15945	1045	37	1		1	TLN2	15	63031561	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	92021	63031561	39499831	1366	138663											
CA12	771	broad.mit.edu	37	chr15	63618547	63618547	+	Frame_Shift_Del	DEL	T	T	-													atgactcccttgttatcaccTtttttgatactagaacagaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63618546_63618546CT>C	uc002amc.3	-	10	1159	c.1003_1003AG>G	c.(1003-1005)ggtfs	p.G335fs	CA12_uc002amd.3_Frame_Shift_Del_p.G324fs|CA12_uc002ame.3_Frame_Shift_Del_p.G264fs	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	335					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)	TTGTTATCACCTTTTTTGATA	0.517													-	63618547	T	-	63618547	7	5	273	1	0	1	0	1	0	0	0	0	2513	1606	56	0	66	0	CA12	15	63618547	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	586986	63618547	38912845	1367	138664											
HERC1	8925	broad.mit.edu	37	chr15	63904727	63904727	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggcacaggaacaatcCaggacatcccttctcggact	10	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63904727C>T	uc002amp.2	-	77	14271	c.14123G>A	c.(14122-14124)TGG>TAG	p.W4708*	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4708	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGGAACAATCCAGGACATCCC	0.577													T	63904727	C	T	63904727	4	4	273	1	0	0	0	0	0	1	0	0	7057	595	21	4	470	4	HERC1	15	63904727	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	286180	63904727	38626665	1368	138665											
HERC1	8925	broad.mit.edu	37	chr15	63967043	63967043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtactctgacttttgacGtcatcagatgttaggcctgt	11	8	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63967043G>A	uc002amp.2	-	38	7492	c.7344C>T	c.(7342-7344)GAC>GAT	p.D2448D		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2448					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GACTTTTGACGTCATCAGATG	0.418													A	63967043	G	A	63967043	2	1	273	1	0	0	0	0	0	0	0	1	7057	1136	40	1		1	HERC1	15	63967043	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	62316	63967043	38564349	1369	138666											
ZNF609	23060	broad.mit.edu	37	chr15	64791864	64791864	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccagtgccaggtcctcaAgggaaggaaggcaaatcaaa	11	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:64791864A>G	uc002ann.2	+	1	246	c.246A>G	c.(244-246)CAA>CAG	p.Q82Q	ZNF609_uc010bgy.2_Silent_p.Q82Q	NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	82						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGGTCCTCAAGGGAAGGAAG	0.527													G	64791864	A	G	64791864	2	3	273	1	0	0	0	0	0	0	0	1	18032	69	3	3		3	ZNF609	15	64791864	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	824821	64791864	37739528	1370	138667											
ZNF609	23060	broad.mit.edu	37	chr15	64970559	64970560	+	Frame_Shift_Ins	INS	-	-	C													gtccatgtgcctgtgtcctcINScccacttacccagcaccagt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:64970558_64970559T>TC	uc002ann.3	+	4	3646_3647	c.3646_3647T>TC	c.(3646-3648)tccfs	p.S1216fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1216						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						GCCTGTGTCCTCCCCACTTACC	0.594													C	64970560	-	C	64970559	7	5	273	1	0	1	1	0	0	0	0	0	18032	855	30	0	3665	0	ZNF609	15	64970559	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	178695	64970559	37560833	1371	138668											
ANKDD1A	348094	broad.mit.edu	37	chr15	65242166	65242166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgctgttcgagggcctcGtggccattggcaggagggac	17	10	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:65242166G>A	uc002aoa.2	+	14	1485	c.1456G>A	c.(1456-1458)GTG>ATG	p.V486M	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.V363M	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	486	Death.				signal transduction					ovary(1)	1						CGAGGGCCTCGTGGCCATTGG	0.637													A	65242166	G	A	65242166	3	1	273	1	0	0	0	0	1	0	0	0	624	1145	40	1	1510	1	ANKDD1A	15	65242166	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	271607	65242166	37289226	1372	138669											
IGDCC4	57722	broad.mit.edu	37	chr15	65703598	65703598	+	Frame_Shift_Del	DEL	C	C	-													ggggggtccagcggcagcagCccccaggctacagtttagca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:65703597_65703597GC>G	uc002aou.1	-	1	392	c.182_182GC>C	c.(181-183)gctfs	p.A61fs		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	61	Ig-like C2-type 1.|Poly-Ala.					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						AGCGGCAGCAGCCCCCAGGCT	0.642													-	65703598	C	-	65703598	7	5	273	1	0	1	0	1	0	0	0	0	7569	739	26	0	3647	0	IGDCC4	15	65703598	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	461432	65703598	36827794	1373	138670											
DPP8	54878	broad.mit.edu	37	chr15	65771350	65771351	+	Frame_Shift_Ins	INS	-	-	G													atttcctcttcgtgactttgINSgggaaaaacatgaaagatgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:65771349_65771350T>TG	uc002aov.3	-	10	2950_2951	c.1372_1373A>CA	c.(1372-1374)caafs	p.Q458fs	DPP8_uc002aow.3_Frame_Shift_Ins_p.Q458fs|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Frame_Shift_Ins_p.Q442fs|DPP8_uc002aox.3_Frame_Shift_Ins_p.Q442fs|DPP8_uc002aoy.3_Frame_Shift_Ins_p.Q458fs|DPP8_uc002aoz.3_Frame_Shift_Ins_p.Q442fs|DPP8_uc010bhj.3_Frame_Shift_Ins_p.Q458fs|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	458					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						TTCGTGACTTTGGGGAAAAACA	0.287													G	65771351	-	G	65771350	7	5	273	1	0	1	1	0	0	0	0	0	4732	1357	47	0	1364	0	DPP8	15	65771350	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	67752	65771350	36760042	1374	138671											
IQCH	64799	broad.mit.edu	37	chr15	67553631	67553631	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgaagacctttatcagTtaaaggagaaattaacaaaa	6	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:67553631T>G	uc002aqo.1	+	2	120	c.73T>G	c.(73-75)TTA>GTA	p.L25V	IQCH_uc010ujv.1_5'UTR|IQCH_uc002aqn.1_5'UTR|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR|IQCH_uc002aqm.2_Missense_Mutation_p.L25V	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	25										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CCTTTATCAGTTAAAGGAGAA	0.333													G	67553631	T	G	67553631	3	3	273	1	0	0	0	0	1	0	0	0	7811	1722	60	5	79	5	IQCH	15	67553631	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1782281	67553631	34977761	1375	138672											
LARP6	55323	broad.mit.edu	37	chr15	71124946	71124946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcgcagtgggctcctcGtcatgatttttgtctttggc	11	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:71124946G>A	uc002ass.2	-	3	992	c.921C>T	c.(919-921)GAC>GAT	p.D307D		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	307					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						TGGGCTCCTCGTCATGATTTT	0.483													A	71124946	G	A	71124946	2	1	273	1	0	0	0	0	0	0	0	1	8632	1136	40	1		1	LARP6	15	71124946	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3571315	71124946	31406446	1376	138673											
LRRC49	54839	broad.mit.edu	37	chr15	71256165	71256165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgactcttcttccctctCggacatcacctttgatggca	7	14	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:71256165C>T	uc002asw.2	+	9	1062	c.815C>T	c.(814-816)TCG>TTG	p.S272L	LRRC49_uc002asu.2_Missense_Mutation_p.S262L|LRRC49_uc002asx.2_Missense_Mutation_p.S228L|LRRC49_uc010ukf.1_Missense_Mutation_p.S277L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.S244L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	272						cytoplasm|microtubule				ovary(1)	1						TCTTCCCTCTCGGACATCACC	0.433													T	71256165	C	T	71256165	3	4	273	1	0	0	0	0	1	0	0	0	9006	893	31	1	849	1	LRRC49	15	71256165	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	131219	71256165	31275227	1377	138674											
THSD4	79875	broad.mit.edu	37	chr15	72057442	72057442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacctttgaagtgttggaCccctctgaatgttctttcct	8	11	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:72057442C>T	uc002atb.1	+	15	2752	c.2673C>T	c.(2671-2673)GAC>GAT	p.D891D	THSD4_uc002ate.2_Silent_p.D531D|THSD4_uc002atg.1_Silent_p.D94D	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	891	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						AAGTGTTGGACCCCTCTGAAT	0.517													T	72057442	C	T	72057442	2	4	273	1	0	0	0	0	0	0	0	1	15875	506	18	4		4	THSD4	15	72057442	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	801277	72057442	30473950	1378	138675											
NEO1	4756	broad.mit.edu	37	chr15	73470737	73470737	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgttggaaatgcacaAgctggagcccaactgataat	10	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:73470737A>T	uc002avm.3	+	7	1402	c.1260A>T	c.(1258-1260)CAA>CAT	p.Q420H	NEO1_uc010ukx.1_Missense_Mutation_p.Q420H|NEO1_uc010uky.1_Missense_Mutation_p.Q420H|NEO1_uc010ukz.1_Translation_Start_Site|NEO1_uc002avn.3_Missense_Mutation_p.Q65H	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	420	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GAAATGCACAAGCTGGAGCCC	0.423													T	73470737	A	T	73470737	3	4	273	1	0	0	0	0	1	0	0	0	10336	69	3	5	1286	5	NEO1	15	73470737	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1413295	73470737	29060655	1379	138676											
NEO1	4756	broad.mit.edu	37	chr15	73570470	73570470	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatgatttcttctcctttAgcctcagggtctggagggaa	11	9	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:73570470A>G	uc002avm.3	+	22	3336	c.3194_splice	c.e22-2	p.A1065_splice	NEO1_uc010ukx.1_Splice_Site_p.A1054_splice|NEO1_uc010uky.1_Splice_Site_p.A1065_splice|NEO1_uc010ukz.1_Splice_Site_p.A478_splice|NEO1_uc002avn.3_Splice_Site_p.A703_splice	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor						axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						CTTCTCCTTTAGCCTCAGGGT	0.458													G	73570470	A	G	73570470	5	3	273	1	0	0	0	0	0	0	1	0	10336	434	15	3	3278	3	NEO1	15	73570470	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	99733	73570470	28960922	1380	138677											
ISLR2	57611	broad.mit.edu	37	chr15	74425134	74425134	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggttggtctgggcgctTctaggagtggccggatcatg	17	8	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:74425134T>G	uc002axd.2	+	4	808	c.39T>G	c.(37-39)CTT>CTG	p.L13L	ISLR2_uc002axe.2_Silent_p.L13L|ISLR2_uc010bjg.2_Silent_p.L13L|ISLR2_uc010bjf.2_Silent_p.L13L	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	13					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						TCTGGGCGCTTCTAGGAGTGG	0.617													G	74425134	T	G	74425134	2	3	273	1	0	0	0	0	0	0	0	1	7859	1770	62	5		5	ISLR2	15	74425134	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	854664	74425134	28106258	1381	138678											
STRA6	64220	broad.mit.edu	37	chr15	74473268	74473268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaagaagtttcggtaCgtgtagtagcctggggtggg	15	6	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:74473268C>T	uc002axk.2	-	18	1877	c.1695G>A	c.(1693-1695)ACG>ACA	p.T565T	STRA6_uc002axi.2_Silent_p.T374T|STRA6_uc010ulh.1_Silent_p.T603T|STRA6_uc002axj.2_Silent_p.T604T|STRA6_uc010bji.2_Silent_p.T565T|STRA6_uc002axl.2_Silent_p.T497T|STRA6_uc002axm.2_Silent_p.T565T|STRA6_uc002axn.2_Silent_p.T556T|STRA6_uc010uli.1_Silent_p.T602T	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	565	Cytoplasmic (Potential).				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			central_nervous_system(1)	1						AGTTTCGGTACGTGTAGTAGC	0.597													T	74473268	C	T	74473268	2	4	273	1	0	0	0	0	0	0	0	1	15321	523	19	1		1	STRA6	15	74473268	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	48134	74473268	28058124	1382	138679											
SEMA7A	8482	broad.mit.edu	37	chr15	74703166	74703166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgcgccgtgaggttctcGatgaacaggatgcagttggg	16	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:74703166G>A	uc002axv.2	-	14	1840	c.1800C>T	c.(1798-1800)ATC>ATT	p.I600I	SEMA7A_uc010ulk.1_Silent_p.I435I|SEMA7A_uc010ull.1_Silent_p.I586I	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	600	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(1)|central_nervous_system(1)	2						TGAGGTTCTCGATGAACAGGA	0.637													A	74703166	G	A	74703166	2	1	273	1	0	0	0	0	0	0	0	1	14043	1048	37	1		1	SEMA7A	15	74703166	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	229898	74703166	27828226	1383	138680											
ULK3	25989	broad.mit.edu	37	chr15	75131045	75131045	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgattggaagaggagacGatggccttgagctcctcagc	14	10	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:75131045G>A	uc010bkf.1	-	10	1147	c.1041C>T	c.(1039-1041)ATC>ATT	p.I347I	ULK3_uc010ulp.1_Silent_p.I257I|ULK3_uc010ulq.1_Silent_p.I358I|ULK3_uc010ulr.1_Silent_p.I230I|ULK3_uc002ayv.2_Silent_p.I347I|ULK3_uc010uls.1_Silent_p.I230I	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51-like kinase 3	347	MIT 1.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						AAGAGGAGACGATGGCCTTGA	0.647													A	75131045	G	A	75131045	2	1	273	1	0	0	0	0	0	0	0	1	16974	1048	37	1		1	ULK3	15	75131045	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	427879	75131045	27400347	1384	138681											
SCAMP2	10066	broad.mit.edu	37	chr15	75146364	75146364	+	Splice_Site	DEL	G	G	-													gttctttgtcagcactacctGgggggtcggctgggttggtt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:75146363_75146363TG>T	uc002azb.1	-	3	299	c.225_splice	c.e3+1	p.Q75_splice	SCAMP2_uc002aza.1_Splice_Site	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	75					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAGCACTACCTGGGGGGTCGG	0.572													-	75146364	G	-	75146364	8	5	273	1	0	1	0	1	0	0	1	0	13871	1357	47	0	794	0	SCAMP2	15	75146364	Splice_Site	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	15319	75146364	27385028	1385	138682											
NRG4	145957	broad.mit.edu	37	chr15	76254214	76254214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataagtgttactaggaccGccaatgccacaaaagcttca	8	10	1	1	rs143118805		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:76254214G>A	uc002bbo.2	-	4	390	c.206C>T	c.(205-207)GCG>GTG	p.A69V	NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	neuregulin 4	69	Helical; Note=Internal signal sequence; (Potential).					extracellular region|integral to membrane|plasma membrane	growth factor activity				0						TACTAGGACCGCCAATGCCAC	0.393													A	76254214	G	A	76254214	3	1	273	1	0	0	0	0	1	0	0	0	10650	1087	38	1	153	1	NRG4	15	76254214	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1107850	76254214	26277178	1386	138683											
CRABP1	1381	broad.mit.edu	37	chr15	78633490	78633490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaagacatccaccacggTgcgcaccactgagatcaact	7	15	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:78633490T>C	uc002bdp.2	+	2	281	c.176T>C	c.(175-177)GTG>GCG	p.V59A		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	59					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	TCCACCACGGTGCGCACCACT	0.607													C	78633490	T	C	78633490	3	2	273	1	0	0	0	0	1	0	0	0	3843	1696	59	3	182	3	CRABP1	15	78633490	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2379276	78633490	23897902	1387	138684											
ADAMTS7	11173	broad.mit.edu	37	chr15	79063576	79063576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgggcggcgggacctcgtCgtggccacctgcctccctgt	14	17	0	0	rs3825828		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:79063576C>T	uc002bej.3	-	16	2657	c.2446G>A	c.(2446-2448)GAC>AAC	p.D816N	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	816					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GGGACCTCGTCGTGGCCACCT	0.662													T	79063576	C	T	79063576	3	4	273	1	0	0	0	0	1	0	0	0	271	884	31	1	2650	1	ADAMTS7	15	79063576	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	430086	79063576	23467816	1388	138685											
CTSH	1512	broad.mit.edu	37	chr15	79224792	79224792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagtccagcaactgccGcaggcaccctggaaaggcca	12	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:79224792G>A	uc002ben.2	-	7	475	c.378C>T	c.(376-378)TGC>TGT	p.C126C	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	138					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	p.G126R(1)		central_nervous_system(2)|large_intestine(1)	3						AGCAACTGCCGCAGGCACCCT	0.612													A	79224792	G	A	79224792	2	1	273	1	0	0	0	0	0	0	0	1	4036	1079	38	1		1	CTSH	15	79224792	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	161216	79224792	23306600	1389	138686											
RASGRF1	5923	broad.mit.edu	37	chr15	79341903	79341903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgggtggactggatgcGctcattgtccttgagcaggg	16	8	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:79341903G>A	uc002beq.2	-	4	934	c.559C>T	c.(559-561)CGC>TGC	p.R187C	RASGRF1_uc002bep.2_Missense_Mutation_p.R187C|RASGRF1_uc010blm.1_Missense_Mutation_p.R109C|RASGRF1_uc002ber.3_Missense_Mutation_p.R187C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	187					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			skin(4)|ovary(1)|central_nervous_system(1)	6						GACTGGATGCGCTCATTGTCC	0.572													A	79341903	G	A	79341903	3	1	273	1	0	0	0	0	1	0	0	0	13072	1087	38	1	3362	1	RASGRF1	15	79341903	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	117111	79341903	23189489	1390	138687											
ARNT2	9915	broad.mit.edu	37	chr15	80762578	80762578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagaatcatagtgaaatcGaaaggcgcagacggaacaag	13	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:80762578G>A	uc002bfr.2	+	4	380	c.214G>A	c.(214-216)GAA>AAA	p.E72K	ARNT2_uc002bfq.2_Missense_Mutation_p.E72K|ARNT2_uc010unm.1_Missense_Mutation_p.E61K|ARNT2_uc002bfs.2_Missense_Mutation_p.E61K	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	72	Basic motif.				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			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			TAGTGAAATCGAAAGGCGCAG	0.483													A	80762578	G	A	80762578	3	1	273	1	0	0	0	0	1	0	0	0	966	1059	37	1	228	1	ARNT2	15	80762578	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1420675	80762578	21768814	1391	138688											
TMC3	342125	broad.mit.edu	37	chr15	81641861	81641861	+	Frame_Shift_Del	DEL	A	A	-													tctaaggcagcaatgaggtcAaaggctgatggtgctatcat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:81641861delA	uc002bgo.1	-	11	1131	c.1131delT	c.(1129-1131)TTTfs	p.F377fs	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Frame_Shift_Del_p.F377fs	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	377	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						CAATGAGGTCAAAGGCTGATG	0.582													-	81641861	A	-	81641861	7	5	273	1	0	1	0	1	0	0	0	0	15983	127	5	0	2219	0	TMC3	15	81641861	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	879283	81641861	20889531	1392	138689											
FAM154B	283726	broad.mit.edu	37	chr15	82575092	82575092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagcatgggaaagttgtCgtcaaggacttattaagaag	11	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:82575092C>T	uc002bgv.2	+	3	955	c.886C>T	c.(886-888)CGT>TGT	p.R296C	FAM154B_uc010unr.1_Missense_Mutation_p.R281C|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	296										skin(2)	2						GGAAAGTTGTCGTCAAGGACT	0.393													T	82575092	C	T	82575092	3	4	273	1	0	0	0	0	1	0	0	0	5464	884	31	1	896	1	FAM154B	15	82575092	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	933231	82575092	19956300	1393	138690											
HDGFRP3	50810	broad.mit.edu	37	chr15	83826184	83826184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctttgaagtatatgactTtttccgttttgagcctgctt	7	8	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:83826184T>C	uc002bjs.1	-	4	597	c.442A>G	c.(442-444)AAG>GAG	p.K148E		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	148	Nuclear localization signal (Potential).				cell proliferation	nucleus	growth factor activity				0						GTATATGACTTTTTCCGTTTT	0.323													C	83826184	T	C	83826184	3	2	273	1	0	0	0	0	1	0	0	0	7021	1850	64	3	181	3	HDGFRP3	15	83826184	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1251092	83826184	18705208	1394	138691											
BNC1	646	broad.mit.edu	37	chr15	83932743	83932743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtctttgtcccggttAtttctgttcattggcatgtg	11	8	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:83932743A>G	uc002bjt.1	-	4	1348	c.1260T>C	c.(1258-1260)AAT>AAC	p.N420N	BNC1_uc010uos.1_Silent_p.N408N	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	420					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TGTCCCGGTTATTTCTGTTCA	0.562													G	83932743	A	G	83932743	2	3	273	1	0	0	0	0	0	0	0	1	1474	446	16	3		3	BNC1	15	83932743	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	106559	83932743	18598649	1395	138692											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84553863	84553863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtccagaccaggtacaCtgcagccaaagacagcgtgg	11	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:84553863C>T	uc002bjz.3	+	10	1195	c.971C>T	c.(970-972)ACT>ATT	p.T324I	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T324I|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T324I	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	324						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCAGGTACACTGCAGCCAAA	0.453													T	84553863	C	T	84553863	3	4	273	1	0	0	0	0	1	0	0	0	276	565	20	4	1005	4	ADAMTSL3	15	84553863	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	621120	84553863	17977529	1396	138693											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84652067	84652067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacatatacatggaccaaGgatggaaccttgttacagcc	9	11	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:84652067G>T	uc002bjz.3	+	21	3911	c.3687G>T	c.(3685-3687)AAG>AAT	p.K1229N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.K1229N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K1229N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1229	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGGACCAAGGATGGAACCT	0.373													T	84652067	G	T	84652067	3	4	273	1	0	0	0	0	1	0	0	0	276	991	35	5	3765	5	ADAMTSL3	15	84652067	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	98204	84652067	17879325	1397	138694											
KLHL25	64410	broad.mit.edu	37	chr15	86311474	86311474	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatgcgcttggcagtcatgTccccaatccgcgtccactgg	10	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:86311474T>A	uc002bly.2	-	2	1771	c.1568A>T	c.(1567-1569)GAC>GTC	p.D523V		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	523	Kelch 5.					cytoplasm				ovary(2)	2						GGCAGTCATGTCCCCAATCCG	0.592													A	86311474	T	A	86311474	3	1	273	1	0	0	0	0	1	0	0	0	8380	1667	58	5	205	5	KLHL25	15	86311474	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1659407	86311474	16219918	1398	138695											
NTRK3	4916	broad.mit.edu	37	chr15	88799238	88799238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggaagaggttcccatcGtccggccgccggcaattgat	15	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:88799238G>A	uc002bme.1	-	2	309	c.147C>T	c.(145-147)GAC>GAT	p.D49D	NTRK3_uc002bmh.2_Silent_p.D49D|NTRK3_uc002bmf.1_Silent_p.D49D|NTRK3_uc010bnh.1_Silent_p.D49D|NTRK3_uc002bmg.2_Silent_p.D49D	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	49	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTTCCCATCGTCCGGCCGCC	0.557			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			A	88799238	G	A	88799238	2	1	273	1	0	0	0	0	0	0	0	1	10708	1136	40	1		1	NTRK3	15	88799238	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2487764	88799238	13732154	1399	138696											
MRPL46	26589	broad.mit.edu	37	chr15	89007941	89007941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaacccacctgagagTgtggccagggttcgttcagc	13	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:89007941T>C	uc002bmj.2	-	3	607	c.582A>G	c.(580-582)ACA>ACG	p.T194T	MRPL46_uc002bmi.1_Silent_p.T72T|MRPL46_uc002bmk.2_Silent_p.T193T|MRPS11_uc002bmm.2_5'Flank|MRPS11_uc002bml.2_5'Flank|MRPS11_uc002bmn.2_5'Flank|MRPS11_uc010bnj.2_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46 precursor	194						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)	1	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCTGAGAGTGTGGCCAGGG	0.517													C	89007941	T	C	89007941	2	2	273	1	0	0	0	0	0	0	0	1	9810	1683	59	3		3	MRPL46	15	89007941	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	208703	89007941	13523451	1400	138697											
ACAN	176	broad.mit.edu	37	chr15	89417219	89417219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccggtgccagcccagcGggcactgggaggagcctcag	15	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:89417219G>A	uc010upo.1	+	17	7854	c.7480G>A	c.(7480-7482)GGG>AGG	p.G2494R	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2494					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGCCCAGCGGGCACTGGGA	0.622													A	89417219	G	A	89417219	3	1	273	1	0	0	0	0	1	0	0	0	117	1116	39	1	7542	1	ACAN	15	89417219	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	409278	89417219	13114173	1401	138698											
PEX11A	8800	broad.mit.edu	37	chr15	90226757	90226757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatcacaaaggttcttcaCtgtgtccaggagcaagggag	12	8	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:90226757C>T	uc002boi.2	-	3	690	c.595G>A	c.(595-597)GTG>ATG	p.V199M	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	199	Lumenal (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	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)			AGGTTCTTCACTGTGTCCAGG	0.478													T	90226757	C	T	90226757	3	4	273	1	0	0	0	0	1	0	0	0	11737	565	20	4	152	4	PEX11A	15	90226757	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	809538	90226757	12304635	1402	138699											
ANPEP	290	broad.mit.edu	37	chr15	90334189	90334189	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attccacagactcactcgttAaaaagcttcttccagttgct	5	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:90334189A>T	uc002bop.3	-	19	2956	c.2664T>A	c.(2662-2664)TTT>TTA	p.F888L		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	888	Extracellular.|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			ovary(3)|skin(1)	4	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)	CTCACTCGTTAAAAAGCTTCT	0.597													T	90334189	A	T	90334189	3	4	273	1	0	0	0	0	1	0	0	0	710	359	13	5	251	5	ANPEP	15	90334189	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	107432	90334189	12197203	1403	138700											
IDH2	3418	broad.mit.edu	37	chr15	90631918	90631919	+	Frame_Shift_Ins	INS	-	-	C													tgggctcccggaagacagtcINSccccccaggatgttccggat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:90631917_90631918T>TC	uc002box.3	-	3	521_522	c.435_436A>GA	c.(433-438)gggactfs	p.G145fs	IDH2_uc010uqb.2_Frame_Shift_Ins_p.G93fs|IDH2_uc010uqc.2_Frame_Shift_Ins_p.G15fs	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	145					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion 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)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM								C	90631919	-	C	90631918	7	5	273	1	0	1	1	0	0	0	0	0	7495	842	30	0	955	0	IDH2	15	90631918	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	297729	90631918	11899474	1404	138701											
IGF1R	3480	broad.mit.edu	37	chr15	99251014	99251014	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccccaacctcacggtcatCcgcggctggaaactcttcta	7	16	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:99251014C>A	uc002bul.2	+	2	368	c.318C>A	c.(316-318)ATC>ATA	p.I106I	IGF1R_uc010urq.1_Silent_p.I106I|IGF1R_uc010bon.2_Silent_p.I106I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	106					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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	TCACGGTCATCCGCGGCTGGA	0.557													A	99251014	C	A	99251014	2	1	273	1	0	0	0	0	0	0	0	1	7571	845	30	5		5	IGF1R	15	99251014	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	8619096	99251014	3280378	1405	138702											
ADAMTS17	170691	broad.mit.edu	37	chr15	100801843	100801844	+	Splice_Site	INS	-	-	A													cccaatggacaacttagcctINSaaaaaaagtcagaggacagt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:100801843_100801844insA	uc002bvv.1	-	6	953	c.874_splice	c.e6-1	p.A292_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.A49_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAACTTAGCCTAAAAAAAGTCA	0.51													A	100801844	-	A	100801843	8	5	273	1	0	1	1	0	0	0	1	0	262	1536	53	0	2483	0	ADAMTS17	15	100801843	Splice_Site	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1550829	100801843	1729549	1406	138703	738	2									
ADAMTS17	170691	broad.mit.edu	37	chr15	100801844	100801845	+	Splice_Site	INS	-	-	A													ccaatggacaacttagcctaINSaaaaaagtcagaggacagtt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:100801843_100801844T>TA	uc002bvv.1	-	6	953	c.874_splice	c.e6-1	p.A292_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.A49_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	292	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAACTTAGCCTAAAAAAAGTCA	0.51													A	100801845	-	A	100801844	8	5	273	1	0	1	1	0	0	0	1	0	262	377	13	0		0	ADAMTS17	15	100801844	Splice_Site	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	100801844	1729548	1407	138704	738	2									
TM2D3	80213	broad.mit.edu	37	chr15	102182721	102182721	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggtccaacatagccAactccaatgagcaggacgtc	9	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:102182721A>G	uc002bxi.2	-	6	735	c.705T>C	c.(703-705)GTT>GTC	p.V235V	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Silent_p.V170V|TM2D3_uc002bxj.2_Silent_p.V209V|TM2D3_uc002bxk.2_Silent_p.V170V	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	235	Helical; (Potential).					integral to membrane				ovary(1)	1	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)			CAACATAGCCAACTCCAATGA	0.532													G	102182721	A	G	102182721	2	3	273	1	0	0	0	0	0	0	0	1	15962	117	5	3		3	TM2D3	15	102182721	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1380877	102182721	348671	1408	138705											
WFIKKN1	117166	broad.mit.edu	37	chr16	682653	682653	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtggcagcacgcttcccCggcagcccagctgcgccgac	13	18	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:682653C>G	uc002cht.1	+	2	485	c.243C>G	c.(241-243)CCC>CCG	p.P81P	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	81						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				CACGCTTCCCCGGCAGCCCAG	0.677													G	682653	C	G	682653	2	3	273	1	0	0	0	0	0	0	0	1	17355	639	23	5		5	WFIKKN1	16	682653	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08		682653	89672100	1409	138706											
RHBDL1	9028	broad.mit.edu	37	chr16	727109	727109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctcacctacatgttcAtgcacgttgggtgagtagca	10	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:727109A>G	uc002cis.1	+	3	787	c.760A>G	c.(760-762)ATG>GTG	p.M254V	RHBDL1_uc002cir.1_Missense_Mutation_p.M189V|RHBDL1_uc010uun.1_Missense_Mutation_p.M189V	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	254					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				CTACATGTTCATGCACGTTGG	0.627													G	727109	A	G	727109	3	3	273	1	0	0	0	0	1	0	0	0	13321	217	8	3	770	3	RHBDL1	16	727109	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	44456	727109	89627644	1410	138707											
CHTF18	63922	broad.mit.edu	37	chr16	840648	840648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcaccccgccactacacGgagctgctcagtgatgacgt	10	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:840648G>A	uc002cke.3	+	7	939	c.876G>A	c.(874-876)ACG>ACA	p.T292T	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Silent_p.T320T|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	292					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				GCCACTACACGGAGCTGCTCA	0.592													A	840648	G	A	840648	2	1	273	1	0	0	0	0	0	0	0	1	3414	1103	39	1		1	CHTF18	16	840648	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	113539	840648	89514105	1411	138708											
SPSB3	90864	broad.mit.edu	37	chr16	1828187	1828187	+	Frame_Shift_Del	DEL	C	C	-													tgatctcccagaagtgctggCcctcccccagctccttggtg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:1828186_1828186GC>G	uc002cmu.3	-	3	532	c.441_441GC>C	c.(439-441)ggcfs	p.G147fs	SPSB3_uc002cmt.3_Frame_Shift_Del_p.G19fs|SPSB3_uc010uvm.2_3'UTR	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	147	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGAAGTGCTGGCCCTCCCCCA	0.632													-	1828187	C	-	1828187	7	5	273	1	0	1	0	1	0	0	0	0	15113	739	26	0	643	0	SPSB3	16	1828187	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	987539	1828187	88526566	1412	138709											
TBL3	10607	broad.mit.edu	37	chr16	2024271	2024271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagtggcctcgggggCcgtgctgcggagtctggagc	19	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2024271C>T	uc002cnu.1	+	3	269	c.167C>T	c.(166-168)GCC>GTC	p.A56V	TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'Flank|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	56					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GCCTCGGGGGCCGTGCTGCGG	0.647													T	2024271	C	T	2024271	3	4	273	1	0	0	0	0	1	0	0	0	15640	739	26	2	177	2	TBL3	16	2024271	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	196084	2024271	88330482	1413	138710											
ZNF598	90850	broad.mit.edu	37	chr16	2052542	2052542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagtagtcctgggccccGtccgagtcgcagaagtggca	14	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2052542G>A	uc002cof.1	-	6	672	c.657C>T	c.(655-657)GAC>GAT	p.D219D	ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	219						intracellular	zinc ion binding			lung(1)|breast(1)	2						CCTGGGCCCCGTCCGAGTCGC	0.642													A	2052542	G	A	2052542	2	1	273	1	0	0	0	0	0	0	0	1	18025	1136	40	1		1	ZNF598	16	2052542	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	28271	2052542	88302211	1414	138711											
TSC2	7249	broad.mit.edu	37	chr16	2110688	2110688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccatggcatgtccgaaCgaggtggtgtcctatgagat	14	9	0	1	rs45517153		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2110688C>T	uc002con.2	+	11	1099	c.993C>T	c.(991-993)AAC>AAT	p.N331N	TSC2_uc010bsd.2_Silent_p.N331N|TSC2_uc002coo.2_Silent_p.N331N|TSC2_uc010uvv.1_Silent_p.N294N|TSC2_uc010uvw.1_Silent_p.N282N|TSC2_uc002cop.2_Silent_p.N131N	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	331	Required for interaction with TSC1.				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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CATGTCCGAACGAGGTGGTGT	0.592			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	2110688	C	T	2110688	2	4	273	1	0	0	0	0	0	0	0	1	16603	535	19	1		1	TSC2	16	2110688	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	58146	2110688	88244065	1415	138712											
PKD1	5310	broad.mit.edu	37	chr16	2139858	2139858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcaggcccggggatgggCcacgggaagatccggcgggc	20	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2139858C>T	uc002cos.1	-	46	12991	c.12782G>A	c.(12781-12783)GGC>GAC	p.G4261D	PKD1_uc002cot.1_Missense_Mutation_p.G4260D	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4261	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CGGGGATGGGCCACGGGAAGA	0.731													T	2139858	C	T	2139858	3	4	273	1	0	0	0	0	1	0	0	0	11963	739	26	2	133	2	PKD1	16	2139858	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	29170	2139858	88214895	1416	138713											
PKD1	5310	broad.mit.edu	37	chr16	2161747	2161747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaggtgacgggccggcCggccaccaggacgccgtcac	16	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2161747C>T	uc002cos.1	-	15	3630	c.3421G>A	c.(3421-3423)GGC>AGC	p.G1141S	PKD1_uc002cot.1_Missense_Mutation_p.G1141S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1141	PKD 6.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACGGGCCGGCCGGCCACCAGG	0.677													T	2161747	C	T	2161747	3	4	273	1	0	0	0	0	1	0	0	0	11963	652	23	1	9618	1	PKD1	16	2161747	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	21889	2161747	88193006	1417	138714											
CASKIN1	57524	broad.mit.edu	37	chr16	2239534	2239534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgggctccttccggccCtgccaggccgcatagtgcag	12	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2239534C>A	uc010bsg.1	-	4	308	c.276G>T	c.(274-276)CAG>CAT	p.Q92H		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	92	ANK 2.				signal transduction	cytoplasm				skin(2)	2						CCTTCCGGCCCTGCCAGGCCG	0.687													A	2239534	C	A	2239534	3	1	273	1	0	0	0	0	1	0	0	0	2666	680	24	5	4087	5	CASKIN1	16	2239534	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	77787	2239534	88115219	1418	138715											
ATP6V0C	527	broad.mit.edu	37	chr16	2569560	2569560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcttcctccagctgggCgccggcctgagcgtgggcct	16	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2569560C>T	uc002cqn.2	+	3	434	c.282C>T	c.(280-282)GGC>GGT	p.G94G	TBC1D24_uc002cqm.2_3'UTR|ATP6V0C_uc002cqo.2_Silent_p.G51G|AMDHD2_uc002cqp.2_5'Flank|AMDHD2_uc002cqq.2_5'Flank|AMDHD2_uc010uwc.1_5'Flank|AMDHD2_uc010uwd.1_5'Flank	NM_001694	NP_001685	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	94	Helical; (Potential).				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			ovary(1)	1		Ovarian(90;0.17)				TCCAGCTGGGCGCCGGCCTGA	0.697													T	2569560	C	T	2569560	2	4	273	1	0	0	0	0	0	0	0	1	1172	755	27	1		1	ATP6V0C	16	2569560	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	330026	2569560	87785193	1419	138716											
KREMEN2	79412	broad.mit.edu	37	chr16	3014884	3014884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaatgcttccaggtgaAtggggctgactaccgcggcc	14	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3014884A>G	uc002csg.2	+	2	424	c.119A>G	c.(118-120)AAT>AGT	p.N40S	KREMEN2_uc010bsw.1_Missense_Mutation_p.N40S|KREMEN2_uc002csh.2_Missense_Mutation_p.N40S|KREMEN2_uc010uwl.1_Missense_Mutation_p.N40S|KREMEN2_uc010bsx.2_Missense_Mutation_p.N40S|KREMEN2_uc002csi.2_Missense_Mutation_p.N40S	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	kringle-containing transmembrane protein 2	40	Extracellular (Potential).|Kringle.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)	2						TTCCAGGTGAATGGGGCTGAC	0.597													G	3014884	A	G	3014884	3	3	273	1	0	0	0	0	1	0	0	0	8443	101	4	3	125	3	KREMEN2	16	3014884	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	445324	3014884	87339869	1420	138717											
PAQR4	124222	broad.mit.edu	37	chr16	3021678	3021678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggcaggctgctgcccGcctactggtatttggggccc	15	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3021678G>A	uc002csj.3	+	3	885	c.551G>A	c.(550-552)CGC>CAC	p.R184H	PAQR4_uc002csk.3_Missense_Mutation_p.R145H|PAQR4_uc002csl.3_Missense_Mutation_p.R110H|PAQR4_uc010uwm.1_Missense_Mutation_p.R115H	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	184						integral to membrane	receptor activity				0						GCTGCTGCCCGCCTACTGGTA	0.687													A	3021678	G	A	3021678	3	1	273	1	0	0	0	0	1	0	0	0	11437	1087	38	1	561	1	PAQR4	16	3021678	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6794	3021678	87333075	1421	138718											
CLDN6	9074	broad.mit.edu	37	chr16	3065512	3065512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagcaacaaaaggcctgAggccgcccagcccaagtaga	10	15	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3065512A>G	uc002csu.3	-	2	571	c.511T>C	c.(511-513)TCA>CCA	p.S171P		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	171	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						AAAAGGCCTGAGGCCGCCCAG	0.657													G	3065512	A	G	3065512	3	3	273	1	0	0	0	0	1	0	0	0	3489	304	11	3	155	3	CLDN6	16	3065512	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	43834	3065512	87289241	1422	138719											
MMP25	64386	broad.mit.edu	37	chr16	3100442	3100442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaggacagctaccccttcGacgggttggggggcacccta	13	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3100442G>A	uc002cth.2	+	4	793	c.556G>A	c.(556-558)GAC>AAC	p.D186N	MMP25_uc002cti.1_Missense_Mutation_p.D122N	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	186					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CTACCCCTTCGACGGGTTGGG	0.622													A	3100442	G	A	3100442	3	1	273	1	0	0	0	0	1	0	0	0	9662	1058	37	1	570	1	MMP25	16	3100442	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	34930	3100442	87254311	1423	138720											
ZNF263	10127	broad.mit.edu	37	chr16	3339723	3339723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcagctgaaagactgtGtatgggtgtggactgcactg	14	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3339723G>A	uc002cuq.2	+	6	1549	c.1217G>A	c.(1216-1218)TGT>TAT	p.C406Y	ZNF263_uc010uww.1_Missense_Mutation_p.C54Y|ZNF263_uc002cur.2_Missense_Mutation_p.C54Y	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	406					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GAAAGACTGTGTATGGGTGTG	0.468													A	3339723	G	A	3339723	3	1	273	1	0	0	0	0	1	0	0	0	17800	1377	48	4	1239	4	ZNF263	16	3339723	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	239281	3339723	87015030	1424	138721											
NLRC3	197358	broad.mit.edu	37	chr16	3604310	3604310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcaccatcatccctaaCggtgttgccctggaggctgc	11	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3604310C>T	uc010btn.2	-	9	2611	c.2200G>A	c.(2200-2202)GTT>ATT	p.V734I	NLRC3_uc010bto.1_5'UTR	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	734	LRR 5.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TCATCCCTAACGGTGTTGCCC	0.592													T	3604310	C	T	3604310	3	4	273	1	0	0	0	0	1	0	0	0	10468	536	19	1	1046	1	NLRC3	16	3604310	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	264587	3604310	86750443	1425	138722											
BTBD12	84464	broad.mit.edu	37	chr16	3640169	3640169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagctccagctcctcatccGagtccagtaagaggatgacc	9	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3640169G>A	uc002cvp.2	-	12	4097	c.3470C>T	c.(3469-3471)TCG>TTG	p.S1157L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1157	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTCCTCATCCGAGTCCAGTAA	0.443								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3640169	G	A	3640169	3	1	273	1	0	0	0	0	1	0	0	0	1540	1059	37	1	2050	1	BTBD12	16	3640169	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	35859	3640169	86714584	1426	138723											
TRAP1	10131	broad.mit.edu	37	chr16	3725375	3725375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaggggaagctgacgaAgttgctgtacttcgttacca	12	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3725375A>G	uc002cvt.3	-	8	927	c.838T>C	c.(838-840)TTC>CTC	p.F280L	TRAP1_uc002cvs.2_Missense_Mutation_p.F71L|TRAP1_uc010uxf.1_Missense_Mutation_p.F227L	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	280					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				AAGCTGACGAAGTTGCTGTAC	0.488													G	3725375	A	G	3725375	3	3	273	1	0	0	0	0	1	0	0	0	16452	72	3	3	1320	3	TRAP1	16	3725375	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	85206	3725375	86629378	1427	138724											
DNAJA3	9093	broad.mit.edu	37	chr16	4504853	4504853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggaagcaaggctaggCgtgaggctggggaggacgag	20	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:4504853C>T	uc002cwk.2	+	11	1406	c.1381C>T	c.(1381-1383)CGT>TGT	p.R461C	DNAJA3_uc002cwl.2_Intron|DNAJA3_uc010uxk.1_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	461					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						CAAGGCTAGGCGTGAGGCTGG	0.527													T	4504853	C	T	4504853	3	4	273	1	0	0	0	0	1	0	0	0	4613	768	27	1	1423	1	DNAJA3	16	4504853	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	779478	4504853	85849900	1428	138725											
PPL	5493	broad.mit.edu	37	chr16	4934378	4934378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctccagcgctgccagCcgctgctgcaaccgctgtac	10	18	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:4934378C>T	uc002cyd.1	-	22	4368	c.4278G>A	c.(4276-4278)CGG>CGA	p.R1426R		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1426	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCGCTGCCAGCCGCTGCTGCA	0.692													T	4934378	C	T	4934378	2	4	273	1	0	0	0	0	0	0	0	1	12334	726	26	2		2	PPL	16	4934378	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	429525	4934378	85420375	1429	138726											
PPL	5493	broad.mit.edu	37	chr16	4935262	4935262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatattggcgggtgagatCgctgacctccctctcggtgg	13	12	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:4935262C>T	uc002cyd.1	-	22	3484	c.3394G>A	c.(3394-3396)GAT>AAT	p.D1132N		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1132	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CGGGTGAGATCGCTGACCTCC	0.617													T	4935262	C	T	4935262	3	4	273	1	0	0	0	0	1	0	0	0	12334	884	31	1	1880	1	PPL	16	4935262	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	884	4935262	85419491	1430	138727											
ALG1	56052	broad.mit.edu	37	chr16	5125455	5125455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttgtggaagcaagctcGtcattgactggcacaactat	10	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:5125455G>A	uc002cym.2	+	4	498	c.457G>A	c.(457-459)GTC>ATC	p.V153I	ALG1_uc002cyj.2_Missense_Mutation_p.V42I|ALG1_uc002cyn.2_Missense_Mutation_p.V153I|ALG1_uc010bue.2_Missense_Mutation_p.V42I|ALG1_uc010uxy.1_Missense_Mutation_p.V42I	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	153	Lumenal (Potential).				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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				AAGCAAGCTCGTCATTGACTG	0.552													A	5125455	G	A	5125455	3	1	273	1	0	0	0	0	1	0	0	0	510	1145	40	1	471	1	ALG1	16	5125455	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	190193	5125455	85229298	1431	138728											
A2BP1	54715	broad.mit.edu	37	chr16	7568246	7568246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtatccccgcggaatacaCggcccctcatccccaccccg	8	21	1	0	rs146499343		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:7568246C>T	uc002cys.2	+	5	1113	c.125C>T	c.(124-126)ACG>ATG	p.T42M	A2BP1_uc010buf.1_Missense_Mutation_p.T42M|A2BP1_uc002cyr.1_Missense_Mutation_p.T42M|A2BP1_uc002cyt.2_Missense_Mutation_p.T42M|A2BP1_uc010uxz.1_Missense_Mutation_p.T85M|A2BP1_uc010uya.1_Missense_Mutation_p.T78M|A2BP1_uc002cyv.1_Missense_Mutation_p.T42M|A2BP1_uc010uyb.1_Missense_Mutation_p.T42M|A2BP1_uc002cyw.2_Missense_Mutation_p.T62M|A2BP1_uc002cyy.2_Missense_Mutation_p.T62M|A2BP1_uc002cyx.2_Missense_Mutation_p.T62M|A2BP1_uc010uyc.1_Missense_Mutation_p.T62M	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	42					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GCGGAATACACGGCCCCTCAT	0.637													T	7568246	C	T	7568246	3	4	273	1	0	0	0	0	1	0	0	0	3	536	19	1	222	1	A2BP1	16	7568246	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2442791	7568246	82786507	1432	138729											
GRIN2A	2903	broad.mit.edu	37	chr16	9857724	9857724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacctcatggtgaagtggCctgaataggtgggcatgttg	17	6	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:9857724C>T	uc002czo.3	-	13	4225	c.3677G>A	c.(3676-3678)GGC>GAC	p.G1226D	GRIN2A_uc010uym.1_Missense_Mutation_p.G1226D|GRIN2A_uc010uyn.1_Missense_Mutation_p.G1069D|GRIN2A_uc002czr.3_Missense_Mutation_p.G1226D	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1226	Cytoplasmic (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGAAGTGGCCTGAATAGGT	0.557													T	9857724	C	T	9857724	3	4	273	1	0	0	0	0	1	0	0	0	6779	739	26	2	721	2	GRIN2A	16	9857724	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2289478	9857724	80497029	1433	138730											
GRIN2A	2903	broad.mit.edu	37	chr16	9862852	9862852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatgtagaatacgcccgcCatgttgtcaatgtccagctg	10	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:9862852C>A	uc002czo.3	-	12	2999	c.2451G>T	c.(2449-2451)ATG>ATT	p.M817I	GRIN2A_uc010uym.1_Missense_Mutation_p.M817I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M660I|GRIN2A_uc002czr.3_Missense_Mutation_p.M817I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	817	Helical; (Potential).				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			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATACGCCCGCCATGTTGTCAA	0.572													A	9862852	C	A	9862852	3	1	273	1	0	0	0	0	1	0	0	0	6779	594	21	5	1951	5	GRIN2A	16	9862852	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5128	9862852	80491901	1434	138731											
EMP2	2013	broad.mit.edu	37	chr16	10631922	10631922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggaccgcctgcagcGtggagtactctgcgggaaaa	15	11	1	0	rs143507341	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:10631922G>A	uc002czx.2	-	4	373	c.179C>T	c.(178-180)ACG>ATG	p.T60M		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	60					cell proliferation	integral to membrane					0						CGCCTGCAGCGTGGAGTACTC	0.627													A	10631922	G	A	10631922	3	1	273	1	0	0	0	0	1	0	0	0	5102	1145	40	1	332	1	EMP2	16	10631922	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	769070	10631922	79722831	1435	138732											
TXNDC11	51061	broad.mit.edu	37	chr16	11773401	11773401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgctcttccagggcccGctgctgctgccgcagccggt	14	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:11773401G>A	uc010buu.1	-	13	2670	c.2608C>T	c.(2608-2610)CGG>TGG	p.R870W	TXNDC11_uc002dbg.1_Missense_Mutation_p.R843W	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	870	Potential.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TCCAGGGCCCGCTGCTGCTGC	0.632													A	11773401	G	A	11773401	3	1	273	1	0	0	0	0	1	0	0	0	16789	1086	38	1	353	1	TXNDC11	16	11773401	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1141479	11773401	78581352	1436	138733											
SNX29	92017	broad.mit.edu	37	chr16	12371842	12371842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtagctgaacagaagccGggagaaattgctgaagaact	12	7	0	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:12371842G>A	uc002dby.3	+	8	632	c.576G>A	c.(574-576)CCG>CCA	p.P192P		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	192					cell communication		phosphatidylinositol binding			ovary(1)	1						AACAGAAGCCGGGAGAAATTG	0.433													A	12371842	G	A	12371842	2	1	273	1	0	0	0	0	0	0	0	1	14898	1103	39	1		1	SNX29	16	12371842	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	598441	12371842	77982911	1437	138734											
MYH11	4629	broad.mit.edu	37	chr16	15835670	15835670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctctgccttctgctgccGctccttggtcttctgcagtt	8	14	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:15835670G>A	uc002ddy.2	-	21	2706	c.2599C>T	c.(2599-2601)CGG>TGG	p.R867W	MYH11_uc002ddv.2_Missense_Mutation_p.R874W|MYH11_uc002ddw.2_Missense_Mutation_p.R867W|MYH11_uc002ddx.2_Missense_Mutation_p.R874W|MYH11_uc010bvg.2_Missense_Mutation_p.R699W	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	867	Potential.				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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTCTGCTGCCGCTCCTTGGTC	0.577			T	CBFB	AML								A	15835670	G	A	15835670	3	1	273	1	0	0	0	0	1	0	0	0	10031	1086	38	1	3438	1	MYH11	16	15835670	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3463828	15835670	74519083	1438	138735											
ABCC1	4363	broad.mit.edu	37	chr16	16142120	16142121	+	Frame_Shift_Ins	INS	-	-	C													attaacatgatctggtcagcINSccccctgcaagtcatccttg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:16142119_16142120G>GC	uc010bvi.3	+	9	1514_1515	c.1339_1340G>GC	c.(1339-1341)gccfs	p.A447fs	ABCC1_uc010bvj.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvk.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvl.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvm.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc002del.4_Frame_Shift_Ins_p.A331fs|ABCC1_uc010bvn.3_Frame_Shift_Ins_p.A310fs	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	447	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)	GATCTGGTCAGCCCCCCTGCAA	0.545													C	16142121	-	C	16142120	7	5	273	1	0	1	1	0	0	0	0	0	49	739	26	0	1378	0	ABCC1	16	16142120	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	306450	16142120	74212633	1439	138736											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871266	20871267	+	Frame_Shift_Ins	INS	-	-	C													gctgagtgcacctctcccttINSccccttctcttttccttcgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:20871266_20871267insC	uc002dhz.2	-	3	997_998	c.856_857insG	c.(856-858)GAAfs	p.E286fs	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain	286					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				ovary(2)	2				GBM - Glioblastoma multiforme(48;0.249)		ACCTCTCCCTTCCCCTTCTCTT	0.574													C	20871267	-	C	20871266	7	5	273	1	0	1	1	0	0	0	0	0	4315	1783	62	0	61	0	DCUN1D3	16	20871266	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	4729146	20871266	69483487	1440	138737	739	2									
DCUN1D3	123879	broad.mit.edu	37	chr16	20871267	20871268	+	Frame_Shift_Ins	INS	-	-	C													ctgagtgcacctctcccttcINScccttctcttttccttcgct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:20871266_20871267T>TC	uc002dhz.3	-	2	997_998	c.856_857A>GA	c.(856-858)gaafs	p.E286fs	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	286					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ACCTCTCCCTTCCCCTTCTCTT	0.574													C	20871268	-	C	20871267	7	5	273	1	0	1	1	0	0	0	0	0	4315	864	30	0	62	0	DCUN1D3	16	20871267	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	20871267	69483486	1441	138738	739	2									
POLR3E	55718	broad.mit.edu	37	chr16	22328529	22328529	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatcctgatgaagaatggTgggtgcctaccccctgccca	11	12	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:22328529T>C	uc002dkk.2	+	12	1021	c.865_splice	c.e12+2	p.V289_splice	POLR3E_uc002dkj.1_Splice_Site_p.V289_splice|POLR3E_uc002dkm.2_Splice_Site_p.V253_splice|POLR3E_uc010vbr.1_Splice_Site_p.V289_splice|POLR3E_uc002dkl.2_Splice_Site_p.V289_splice|POLR3E_uc010vbs.1_Splice_Site_p.V253_splice|POLR3E_uc010vbt.1_Splice_Site_p.V233_splice	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E						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			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		TGAAGAATGGTGGGTGCCTAC	0.652													C	22328529	T	C	22328529	5	2	273	1	0	0	0	0	0	0	1	0	12232	1710	59	3	909	3	POLR3E	16	22328529	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1457262	22328529	68026224	1442	138739											
POLR3E	55718	broad.mit.edu	37	chr16	22335726	22335726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggaaagaggtggcaaccGtgaccaaagtaagtggcgtt	14	6	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:22335726G>A	uc002dkk.2	+	15	1276	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	POLR3E_uc002dkj.1_Missense_Mutation_p.V374M|POLR3E_uc002dkm.2_Missense_Mutation_p.V338M|POLR3E_uc010vbr.1_Missense_Mutation_p.V374M|POLR3E_uc002dkl.2_Missense_Mutation_p.V374M|POLR3E_uc010vbs.1_Missense_Mutation_p.V338M|POLR3E_uc010vbt.1_Missense_Mutation_p.V318M	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	374					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			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		GGTGGCAACCGTGACCAAAGT	0.637													A	22335726	G	A	22335726	3	1	273	1	0	0	0	0	1	0	0	0	12232	1145	40	1	1174	1	POLR3E	16	22335726	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7197	22335726	68019027	1443	138740											
HS3ST2	9956	broad.mit.edu	37	chr16	22926383	22926383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgagacaccaagctgatcGtggttgtgcggaaccctgtg	13	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:22926383G>A	uc002dli.2	+	2	676	c.604G>A	c.(604-606)GTG>ATG	p.V202M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	202	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CAAGCTGATCGTGGTTGTGCG	0.572													A	22926383	G	A	22926383	3	1	273	1	0	0	0	0	1	0	0	0	7364	1145	40	1	610	1	HS3ST2	16	22926383	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	590657	22926383	67428370	1444	138741											
GTF3C1	2975	broad.mit.edu	37	chr16	27475894	27475894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgggtgccctcggcgtcGgtctccccattctcactggc	11	16	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:27475894G>A	uc002dov.1	-	34	5659	c.5619C>T	c.(5617-5619)ACC>ACT	p.T1873T	GTF3C1_uc002dou.2_Silent_p.T1873T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1873						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCTCGGCGTCGGTCTCCCCAT	0.682													A	27475894	G	A	27475894	2	1	273	1	0	0	0	0	0	0	0	1	6872	1103	39	1		1	GTF3C1	16	27475894	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4549511	27475894	62878859	1445	138742											
GTF3C1	2975	broad.mit.edu	37	chr16	27500445	27500445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggaatcgagccctgcGgcacccagcccatctccagg	11	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:27500445G>A	uc002dov.1	-	21	3388	c.3348C>T	c.(3346-3348)GCC>GCT	p.A1116A	GTF3C1_uc002dou.2_Silent_p.A1116A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1116						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CGAGCCCTGCGGCACCCAGCC	0.547													A	27500445	G	A	27500445	2	1	273	1	0	0	0	0	0	0	0	1	6872	1103	39	1		1	GTF3C1	16	27500445	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	24551	27500445	62854308	1446	138743											
KIAA0556	23247	broad.mit.edu	37	chr16	27629746	27629746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtttcttcatttcagGgttacgctaaggacatggtg	11	8	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:27629746G>T	uc002dow.2	+	3	88	c.64G>T	c.(64-66)GGT>TGT	p.G22C		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	22										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TTCATTTCAGGGTTACGCTAA	0.507													T	27629746	G	T	27629746	3	4	273	1	0	0	0	0	1	0	0	0	8183	1246	43	5	74	5	KIAA0556	16	27629746	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	129301	27629746	62725007	1447	138744											
XPO6	23214	broad.mit.edu	37	chr16	28137068	28137068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacacatccccgataaagtActcggccaggcggcccacgg	10	15	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28137068A>G	uc002dpa.1	-	13	2209	c.1708T>C	c.(1708-1710)TAC>CAC	p.Y570H	XPO6_uc002dpb.1_Missense_Mutation_p.Y556H|XPO6_uc010vcp.1_Missense_Mutation_p.Y570H	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	570					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						CCGATAAAGTACTCGGCCAGG	0.582													G	28137068	A	G	28137068	3	3	273	1	0	0	0	0	1	0	0	0	17445	391	14	3	1717	3	XPO6	16	28137068	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	507322	28137068	62217685	1448	138745											
APOB48R	55911	broad.mit.edu	37	chr16	28507727	28507727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggaggccaggaggcAggggagagctttgagggcca	21	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28507727A>G	uc002dqb.1	+	3	1348	c.1338A>G	c.(1336-1338)GCA>GCG	p.A446A	uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	446	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						GCCAGGAGGCAGGGGAGAGCT	0.637													G	28507727	A	G	28507727	2	3	273	1	0	0	0	0	0	0	0	1	786	175	7	3		3	APOB48R	16	28507727	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	370659	28507727	61847026	1449	138746											
SULT1A1	6817	broad.mit.edu	37	chr16	28620148	28620148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacgtactccagtggcGggcgggaggtgtcctggatc	15	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28620148G>A	uc002dqi.2	-	1	502	c.29C>T	c.(28-30)CCG>CTG	p.P10L	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqk.2_Missense_Mutation_p.P10L|SULT1A1_uc002dql.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.P101L|SULT1A1_uc002dqo.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqp.2_Missense_Mutation_p.P10L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	10					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				0						CTCCAGTGGCGGGCGGGAGGT	0.602													A	28620148	G	A	28620148	3	1	273	1	0	0	0	0	1	0	0	0	15371	1116	39	1	886	1	SULT1A1	16	28620148	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	112421	28620148	61734605	1450	138747											
ATXN2L	11273	broad.mit.edu	37	chr16	28846700	28846700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccgcagtcccagcatGcggcccccagtcctgtccag	11	19	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28846700G>A	uc002drc.2	+	20	2833	c.2665G>A	c.(2665-2667)GCG>ACG	p.A889T	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A889T|ATXN2L_uc002dqy.2_Missense_Mutation_p.A889T|ATXN2L_uc002dra.2_Missense_Mutation_p.A889T|ATXN2L_uc002dqz.2_Missense_Mutation_p.A889T|ATXN2L_uc010vdb.1_Missense_Mutation_p.A895T|ATXN2L_uc002dre.2_Missense_Mutation_p.A889T|ATXN2L_uc002drf.2_Missense_Mutation_p.A298T|ATXN2L_uc002drg.2_Missense_Mutation_p.A171T	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	889						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GTCCCAGCATGCGGCCCCCAG	0.637													A	28846700	G	A	28846700	3	1	273	1	0	0	0	0	1	0	0	0	1212	1319	46	2	2743	2	ATXN2L	16	28846700	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	226552	28846700	61508053	1451	138748											
ATXN2L	11273	broad.mit.edu	37	chr16	28847356	28847357	+	Frame_Shift_Ins	INS	-	-	C													accccagagtcatggggggcINSccccccaaggcgcggtgccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28847355_28847356G>GC	uc002dqy.3	+	21	3164_3165	c.2997_2998G>GC	c.(2995-3000)gggcccfs	p.G999fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002dra.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002drb.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002drc.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc010vdb.2_Frame_Shift_Ins_p.G1005fs|ATXN2L_uc002dre.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002drf.3_Frame_Shift_Ins_p.G408fs|ATXN2L_uc002drg.3_Frame_Shift_Ins_p.G282fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	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						GTCATGGGGGGCCCCCCCAAGG	0.688													C	28847357	-	C	28847356	7	5	273	1	0	1	1	0	0	0	0	0	1212	739	26	0	3084	0	ATXN2L	16	28847356	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	656	28847356	61507397	1452	138749											
MAZ	4150	broad.mit.edu	37	chr16	29818087	29818087	+	Frame_Shift_Del	DEL	G	G	-													cgtgctgggcctggactcccGgggggtgggcggcctcatga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:29818087delG	uc002dty.2	+	1	233	c.65delG	c.(64-66)CGGfs	p.R22fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Intron|MAZ_uc002dtw.2_Frame_Shift_Del_p.R22fs|MAZ_uc002dtx.2_Frame_Shift_Del_p.R22fs|MAZ_uc010bzg.2_Frame_Shift_Del_p.R22fs|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	22					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			ovary(1)	1						CTGGACTCCCGGGGGGTGGGC	0.726													-	29818087	G	-	29818087	7	5	273	1	0	1	0	1	0	0	0	0	9340	1116	39	0	67	0	MAZ	16	29818087	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	970731	29818087	60536666	1453	138750											
GDPD3	79153	broad.mit.edu	37	chr16	30124700	30124700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatgcggaaggtgggagCcctgggcgtgtgcagcagat	20	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:30124700C>T	uc002dwp.2	-	1	179	c.100G>A	c.(100-102)GCT>ACT	p.A34T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_5'UTR|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	34	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						AAGGTGGGAGCCCTGGGCGTG	0.637													T	30124700	C	T	30124700	3	4	273	1	0	0	0	0	1	0	0	0	6325	739	26	2	896	2	GDPD3	16	30124700	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	306613	30124700	60230053	1454	138751											
ITGAL	3683	broad.mit.edu	37	chr16	30518138	30518138	+	Frame_Shift_Del	DEL	C	C	-													gtccagctggacctgcacttCcccccgggactctccttccg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:30518138delC	uc002dyi.3	+	21	2645	c.2469delC	c.(2467-2469)TTCfs	p.F823fs	ITGAL_uc002dyj.3_Frame_Shift_Del_p.F739fs|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	823	Extracellular (Potential).				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			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	ACCTGCACTTCCCCCCGGGAC	0.597													-	30518138	C	-	30518138	7	5	273	1	0	1	0	1	0	0	0	0	7886	854	30	0	2551	0	ITGAL	16	30518138	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	393438	30518138	59836615	1455	138752											
HSD3B7	80270	broad.mit.edu	37	chr16	30997840	30997840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctaacaccaaaggtcAccccttctacaggtgagtgg	12	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:30997840A>G	uc002eaf.2	+	4	525	c.419A>G	c.(418-420)CAC>CGC	p.H140R	HSD3B7_uc010cac.2_Missense_Mutation_p.H140R|HSD3B7_uc002eag.2_Missense_Mutation_p.H140R|HSD3B7_uc002eah.2_Missense_Mutation_p.H140R	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	140					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				0						ACCAAAGGTCACCCCTTCTAC	0.572													G	30997840	A	G	30997840	3	3	273	1	0	0	0	0	1	0	0	0	7392	159	6	3	429	3	HSD3B7	16	30997840	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	479702	30997840	59356913	1456	138753											
TRIM72	493829	broad.mit.edu	37	chr16	31236013	31236013	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcttcgacgtgtgctgGcacgacaagggcaagaatgc	12	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:31236013G>A	uc002ebn.1	+	7	1600	c.1371G>A	c.(1369-1371)TGG>TGA	p.W457*	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	457	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						ACGTGTGCTGGCACGACAAGG	0.697													A	31236013	G	A	31236013	4	1	273	1	0	0	0	0	0	1	0	0	16542	1212	42	2	1393	2	TRIM72	16	31236013	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	238173	31236013	59118740	1457	138754											
ITGAD	3681	broad.mit.edu	37	chr16	31422077	31422077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttactccaccgagctagccCtgtggaagggggtacagaac	13	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:31422077C>A	uc002ebv.1	+	12	1283	c.1234C>A	c.(1234-1236)CTG>ATG	p.L412M	ITGAD_uc010cap.1_Missense_Mutation_p.L412M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	412	FG-GAP 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CGAGCTAGCCCTGTGGAAGGG	0.657													A	31422077	C	A	31422077	3	1	273	1	0	0	0	0	1	0	0	0	7884	680	24	5	1280	5	ITGAD	16	31422077	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	186064	31422077	58932676	1458	138755											
SIAH1	6477	broad.mit.edu	37	chr16	48396331	48396331	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatgctgtagcagtctgAcggctcatttctgaaataaa	10	7	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:48396331A>G	uc002efo.1	-	2	126	c.9T>C	c.(7-9)CGT>CGC	p.R3R	uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Silent_p.R34R	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	seven in absentia homolog 1 isoform a	3					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TAGCAGTCTGACGGCTCATTT	0.423													G	48396331	A	G	48396331	2	3	273	1	0	0	0	0	0	0	0	1	14299	262	10	3		3	SIAH1	16	48396331	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	16974254	48396331	41958422	1459	138756											
LPCAT2	54947	broad.mit.edu	37	chr16	55613034	55613034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagctgtttgacgttgAtgaggatggctacataacgg	12	7	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:55613034A>G	uc002eie.3	+	13	1509	c.1328A>G	c.(1327-1329)GAT>GGT	p.D443G	LPCAT2_uc002eic.2_Missense_Mutation_p.D173G	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	443	2 (Potential).|EF-hand 2.|Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						TTTGACGTTGATGAGGATGGC	0.403													G	55613034	A	G	55613034	3	3	273	1	0	0	0	0	1	0	0	0	8911	333	12	3	1378	3	LPCAT2	16	55613034	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	7216703	55613034	34741719	1460	138757											
SLC6A2	6530	broad.mit.edu	37	chr16	55690802	55690802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaagaagatcgacttcCtgctgtccgtagtcggcttc	13	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:55690802C>A	uc002eif.2	+	2	307	c.196C>A	c.(196-198)CTG>ATG	p.L66M	SLC6A2_uc010ccd.2_Missense_Mutation_p.L66M|SLC6A2_uc002eig.2_Missense_Mutation_p.L66M|SLC6A2_uc002eih.2_Missense_Mutation_p.L66M	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	66	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				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)	GATCGACTTCCTGCTGTCCGT	0.692													A	55690802	C	A	55690802	3	1	273	1	0	0	0	0	1	0	0	0	14683	680	24	5	198	5	SLC6A2	16	55690802	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	77768	55690802	34663951	1461	138758											
BBS2	583	broad.mit.edu	37	chr16	56553706	56553706	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgggtgagtcccgtcgtaGcgccctatggccaccattcg	12	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:56553706G>T	uc002ejd.2	-	1	303	c.69C>A	c.(67-69)CGC>CGA	p.R23R	BBS2_uc010ccg.2_Silent_p.R23R	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	23			R -> P (in BBS2).		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			ovary(1)	1						TCCCGTCGTAGCGCCCTATGG	0.667									Bardet-Biedl_syndrome				T	56553706	G	T	56553706	2	4	273	1	0	0	0	0	0	0	0	1	1338	958	34	5		5	BBS2	16	56553706	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	862904	56553706	33801047	1462	138759											
MT1B	4490	broad.mit.edu	37	chr16	56686928	56686928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtgccaagtgtgcccAgggctgtgtctgcaaaggct	16	10	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:56686928A>G	uc002ejs.2	+	3	192	c.137A>G	c.(136-138)CAG>CGG	p.Q46R		NM_005947	NP_005938	P07438	MT1B_HUMAN	metallothionein 1B	46	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding				0						AAGTGTGCCCAGGGCTGTGTC	0.577													G	56686928	A	G	56686928	3	3	273	1	0	0	0	0	1	0	0	0	9898	188	7	3	147	3	MT1B	16	56686928	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	133222	56686928	33667825	1463	138760											
KIFC3	3801	broad.mit.edu	37	chr16	57800794	57800794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagtcacctttcagcCgcacgagctcattgtggcac	9	15	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:57800794C>A	uc002emp.2	-	10	1519	c.1322G>T	c.(1321-1323)CGG>CTG	p.R441L	KIFC3_uc010vhw.1_Missense_Mutation_p.R339L|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.R302L|KIFC3_uc010vhx.1_Missense_Mutation_p.R302L|KIFC3_uc010cdf.2_Missense_Mutation_p.R302L|KIFC3_uc002emo.3_Missense_Mutation_p.R302L|KIFC3_uc010vhy.1_Missense_Mutation_p.R383L|KIFC3_uc002emq.2_Missense_Mutation_p.R441L|KIFC3_uc010vhz.1_Missense_Mutation_p.R463L|KIFC3_uc002emr.1_Missense_Mutation_p.R218L	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	441					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			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				ACCTTTCAGCCGCACGAGCTC	0.627													A	57800794	C	A	57800794	3	1	273	1	0	0	0	0	1	0	0	0	8314	652	23	5	1228	5	KIFC3	16	57800794	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1113866	57800794	32553959	1464	138761											
PRSS54	221191	broad.mit.edu	37	chr16	58314246	58314246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccccaccgtaatagTcatagtataagggttgtaca	7	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:58314246T>C	uc002enf.2	-	7	1465	c.1070A>G	c.(1069-1071)GAC>GGC	p.D357G	PRSS54_uc002eng.2_Missense_Mutation_p.D357G|PRSS54_uc010vie.1_Missense_Mutation_p.D258G|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	357					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACCGTAATAGTCATAGTATAA	0.468													C	58314246	T	C	58314246	3	2	273	1	0	0	0	0	1	0	0	0	12633	1667	58	3	121	3	PRSS54	16	58314246	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	513452	58314246	32040507	1465	138762											
C16orf70	80262	broad.mit.edu	37	chr16	67179283	67179283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctcttttcagaaaaCgcagatggtcagacagaaac	8	9	4	4	rs111855351		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67179283C>T	uc002erc.2	+	14	1095	c.1011C>T	c.(1009-1011)AAC>AAT	p.N337N	C16orf70_uc002erd.2_Silent_p.N337N	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	337										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTTCAGAAAACGCAGATGGTC	0.547													T	67179283	C	T	67179283	2	4	273	1	0	0	0	0	0	0	0	1	1829	535	19	1		1	C16orf70	16	67179283	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	8865037	67179283	23175470	1466	138763											
HSF4	3299	broad.mit.edu	37	chr16	67199736	67199736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgagcagctactggagcGcgtgcggcgcaaggtggggg	20	11	0	0	rs79121622		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67199736G>A	uc002erl.1	+	5	1312	c.347G>A	c.(346-348)CGC>CAC	p.R116H	HSF4_uc002erm.1_Missense_Mutation_p.R116H|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	116	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTACTGGAGCGCGTGCGGCGC	0.706													A	67199736	G	A	67199736	3	1	273	1	0	0	0	0	1	0	0	0	7398	1087	38	1	357	1	HSF4	16	67199736	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	20453	67199736	23155017	1467	138764											
ELMO3	79767	broad.mit.edu	37	chr16	67233097	67233097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagcagtctgggccgCgagtgcgggacaccgaggtc	18	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67233097C>T	uc002esa.2	+	1	70	c.27C>T	c.(25-27)CGC>CGT	p.R9R	ELMO3_uc002esb.2_Silent_p.R9R|ELMO3_uc002esc.2_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	Error:Variant_position_missing_in_Q96BJ8_after_alignment					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GTCTGGGCCGCGAGTGCGGGA	0.687													T	67233097	C	T	67233097	2	4	273	1	0	0	0	0	0	0	0	1	5067	755	27	1		1	ELMO3	16	67233097	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	33361	67233097	23121656	1468	138765											
LRRC29	26231	broad.mit.edu	37	chr16	67242270	67242270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaggtccaactcctgcAgggcccgcagcgtgagcagg	15	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67242270A>C	uc002esd.2	-	2	1127	c.230T>G	c.(229-231)CTG>CGG	p.L77R	LRRC29_uc002ese.2_Missense_Mutation_p.L77R|LRRC29_uc002esf.2_Missense_Mutation_p.L77R|LRRC29_uc002esg.2_Missense_Mutation_p.L77R	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	F-box and leucine-rich repeat protein 9	77	LRR 2.										0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAACTCCTGCAGGGCCCGCAG	0.642													C	67242270	A	C	67242270	3	2	273	1	0	0	0	0	1	0	0	0	8983	188	7	5	453	5	LRRC29	16	67242270	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	9173	67242270	23112483	1469	138766											
SLC9A5	6553	broad.mit.edu	37	chr16	67290433	67290433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatctcccataagtcaCgcacaactgtcaaatataca	3	14	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67290433C>T	uc002esm.2	+	6	1036	c.973C>T	c.(973-975)CGC>TGC	p.R325C	SLC9A5_uc010cee.2_Missense_Mutation_p.R30C|SLC9A5_uc010vji.1_Translation_Start_Site	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	325					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCATAAGTCACGCACAACTGT	0.532													T	67290433	C	T	67290433	3	4	273	1	0	0	0	0	1	0	0	0	14717	536	19	1	995	1	SLC9A5	16	67290433	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	48163	67290433	23064320	1470	138767											
CTCF	10664	broad.mit.edu	37	chr16	67645338	67645339	+	Frame_Shift_Ins	INS	-	-	AA													cagactatcagccaccagccINSaaaaaaacaaagaaaaccaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67645338_67645339insAA	uc002etl.2	+	3	893_894	c.603_604insAA	c.(601-606)GCCAAAfs	p.A201fs	CTCF_uc010cek.2_Intron	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	201_202					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			ovary(1)	1		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)		AGCCACCAGCCAAAAAAACAAA	0.475													AA	67645339	-	AA	67645338	7	5	273	1	0	1	1	0	0	0	0	0	4000	581	21	0	605	0	CTCF	16	67645338	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	354905	67645338	22709415	1471	138768	740	2									
CTCF	10664	broad.mit.edu	37	chr16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	AA													agactatcagccaccagccaINSaaaaaacaaagaaaaccaaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67645338_67645339C>CAA	uc002etl.3	+	2	1047_1048	c.603_604C>CAA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					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)		AGCCACCAGCCAAAAAAACAAA	0.475													AA	67645340	-	AA	67645339	7	5	273	1	0	1	1	0	0	0	0	0	4000	131	5	0	606	0	CTCF	16	67645339	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	67645339	22709414	1472	138769	740	2									
PRMT7	54496	broad.mit.edu	37	chr16	68380061	68380062	+	Frame_Shift_Del	DEL	GA	GA	-													ggcctagccctgaaaagaatGagagagtccgccagatgcgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:68380060_68380061TGA>T	uc002evy.2	+	10	1412_1413	c.1068_1069TGA>T	c.(1066-1071)aatgagfs	p.N356fs	PRMT7_uc010vlg.2_Frame_Shift_Del_p.N306fs|PRMT7_uc002evz.2_Frame_Shift_Del_p.N202fs	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	356					DNA methylation involved in gamete generation|cell differentiation|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)		CTGAAAAGAATGAGAGAGTCCG	0.574													-	68380062	GA	-	68380061	7	5	273	1	0	1	0	1	0	0	0	0	12541	1291	45	0	1103	0	PRMT7	16	68380061	Frame_Shift_Del	DEL	GA	TCGA-HU-A4GT-01A-21D-A25D-08	734722	68380061	21974692	1473	138770											
NFAT5	10725	broad.mit.edu	37	chr16	69726329	69726329	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggaatgttttcctcaacAgagccaacagtccataccag	7	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:69726329A>C	uc002exm.1	+	12	3755	c.2547A>C	c.(2545-2547)ACA>ACC	p.T849T	NFAT5_uc002exi.2_Silent_p.T773T|NFAT5_uc002exj.1_Silent_p.T773T|NFAT5_uc002exk.1_Silent_p.T773T|NFAT5_uc002exl.1_Silent_p.T867T|NFAT5_uc002exn.1_Silent_p.T866T|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	849					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTTCCTCAACAGAGCCAACAG	0.373													C	69726329	A	C	69726329	2	2	273	1	0	0	0	0	0	0	0	1	10360	175	7	5		5	NFAT5	16	69726329	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1346268	69726329	20628424	1474	138771											
SF3B3	23450	broad.mit.edu	37	chr16	70563046	70563046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagagtggatgccgtcGcatcgttcctggccagttct	13	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:70563046G>A	uc002ezf.2	+	3	552	c.341G>A	c.(340-342)CGC>CAC	p.R114H	SNORD111B_uc010cfv.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	114					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GGATGCCGTCGCATCGTTCCT	0.438													A	70563046	G	A	70563046	3	1	273	1	0	0	0	0	1	0	0	0	14152	1087	38	1	347	1	SF3B3	16	70563046	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	836717	70563046	19791707	1475	138772											
SF3B3	23450	broad.mit.edu	37	chr16	70599269	70599269	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcttattctgtgtgtAgtgtggctgtgtgcaggttt	13	5	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:70599269A>G	uc002ezf.2	+	20	2881	c.2670_splice	c.e20-2	p.S890_splice		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3						protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				TTCTGTGTGTAGTGTGGCTGT	0.527													G	70599269	A	G	70599269	5	3	273	1	0	0	0	0	0	0	1	0	14152	434	15	3	2742	3	SF3B3	16	70599269	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	36223	70599269	19755484	1476	138773											
HYDIN	54768	broad.mit.edu	37	chr16	71019097	71019097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttacttacagacacaggCaggattagtggcactccagg	10	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:71019097C>T	uc002ezr.2	-	28	4448	c.4320G>A	c.(4318-4320)CTG>CTA	p.L1440L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1441										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CAGACACAGGCAGGATTAGTG	0.512													T	71019097	C	T	71019097	2	4	273	1	0	0	0	0	0	0	0	1	7467	697	25	2		2	HYDIN	16	71019097	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	419828	71019097	19335656	1477	138774											
ZFHX3	463	broad.mit.edu	37	chr16	72822586	72822587	+	Frame_Shift_Ins	INS	-	-	G													tgctgctgctgctgctgctgINSggggggttgctgagggccca					rs66799632		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:72822585_72822586T>TG	uc002fck.3	-	9	10262_10263	c.9589_9590A>CA	c.(9589-9591)cagfs	p.Q3197fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.Q2283fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3197	Poly-Gln.				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)				ctgctgctgctgGGGGGGTTGC	0.658													G	72822587	-	G	72822586	7	5	273	1	0	1	1	0	0	0	0	0	17631	1357	47	0	1526	0	ZFHX3	16	72822586	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1803489	72822586	17532167	1478	138775											
ZFHX3	463	broad.mit.edu	37	chr16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-													agtgtggctgaagacctgctCcccccctccattctgcaggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:72991757_72991757TC>T	uc002fck.3	-	1	2961	c.2288_2288GA>A	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					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)				GAAGACCTGCTCCCCCCCTCC	0.622													-	72991758	C	-	72991758	7	5	273	1	0	1	0	1	0	0	0	0	17631	864	30	0	8860	0	ZFHX3	16	72991758	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	169172	72991758	17362995	1479	138776											
CHST6	4166	broad.mit.edu	37	chr16	75512546	75512546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgtggcctccactaatttCgggggtgcgaggcggtggat	16	9	0	0	rs139042144	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:75512546C>T	uc002fef.2	-	3	1361	c.1181G>A	c.(1180-1182)CGA>CAA	p.R394Q	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R394Q	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	394	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CCACTAATTTCGGGGGTGCGA	0.627													T	75512546	C	T	75512546	3	4	273	1	0	0	0	0	1	0	0	0	3408	884	31	1	10	1	CHST6	16	75512546	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2520788	75512546	14842207	1480	138777											
CDYL2	124359	broad.mit.edu	37	chr16	80654800	80654800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtcgtctgtggctgcGttgcagagcgctcgccggac	15	12	1	1	rs145308954		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:80654800G>A	uc002ffs.2	-	4	972	c.867C>T	c.(865-867)AAC>AAT	p.N289N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	289						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CTGTGGCTGCGTTGCAGAGCG	0.562													A	80654800	G	A	80654800	2	1	273	1	0	0	0	0	0	0	0	1	3186	1136	40	1		1	CDYL2	16	80654800	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5142254	80654800	9699953	1481	138778											
CDH13	1012	broad.mit.edu	37	chr16	83711897	83711897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtacccgacgtctcctacGgccccagctccacagccacc	7	21	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:83711897G>A	uc002fgx.2	+	10	1489	c.1369G>A	c.(1369-1371)GGC>AGC	p.G457S	CDH13_uc010vns.1_Missense_Mutation_p.G504S|CDH13_uc010vnt.1_Missense_Mutation_p.G203S|CDH13_uc010vnu.1_Missense_Mutation_p.G418S	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	457	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)		CGTCTCCTACGGCCCCAGCTC	0.557													A	83711897	G	A	83711897	3	1	273	1	0	0	0	0	1	0	0	0	3099	1116	39	1	1407	1	CDH13	16	83711897	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3057097	83711897	6642856	1482	138779											
SLC38A8	146167	broad.mit.edu	37	chr16	84043399	84043399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcccatcagaacatcTcccagaccgctgccgccgtg	9	17	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:84043399T>C	uc002fhg.1	-	10	1298	c.1298A>G	c.(1297-1299)GAG>GGG	p.E433G		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	433					amino acid transport|sodium ion transport	integral to membrane					0						TCAGAACATCTCCCAGACCGC	0.617													C	84043399	T	C	84043399	3	2	273	1	0	0	0	0	1	0	0	0	14610	1551	54	3	13	3	SLC38A8	16	84043399	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	331502	84043399	6311354	1483	138780											
TAF1C	9013	broad.mit.edu	37	chr16	84213641	84213641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggagtcgatcctggaaGgaagagactggggggggcct	21	6	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:84213641G>T	uc002fhn.2	-	13	1838	c.1610C>A	c.(1609-1611)CCT>CAT	p.P537H	TAF1C_uc002fhm.2_Missense_Mutation_p.P443H|TAF1C_uc010vnx.1_Missense_Mutation_p.P511H|TAF1C_uc010vny.1_Missense_Mutation_p.P128H|TAF1C_uc010vnz.1_Missense_Mutation_p.P205H|TAF1C_uc002fho.2_Missense_Mutation_p.P60H|TAF1C_uc010voa.1_Missense_Mutation_p.P205H|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	537					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			ovary(1)	1						GATCCTGGAAGGAAGAGACTG	0.657													T	84213641	G	T	84213641	3	4	273	1	0	0	0	0	1	0	0	0	15518	1000	35	5	1007	5	TAF1C	16	84213641	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	170242	84213641	6141112	1484	138781											
KLHL36	79786	broad.mit.edu	37	chr16	84690728	84690728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggtggacttcctgtaCggcggggagctggtgctgga	19	9	0	0	rs143590033		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:84690728C>T	uc002fig.2	+	3	456	c.315C>T	c.(313-315)TAC>TAT	p.Y105Y	KLHL36_uc010chl.2_Silent_p.Y104Y	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	105	BTB.									skin(2)	2						ACTTCCTGTACGGCGGGGAGC	0.597													T	84690728	C	T	84690728	2	4	273	1	0	0	0	0	0	0	0	1	8389	547	19	1		1	KLHL36	16	84690728	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	477087	84690728	5664025	1485	138782											
IRF8	3394	broad.mit.edu	37	chr16	85953745	85953745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctataacagccagggccGgcttcctgacggcagggtgg	15	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:85953745G>A	uc002fjh.2	+	8	1076	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	IRF8_uc010chp.2_RNA	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	340					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)|ovary(1)	3		Prostate(104;0.0771)				AGCCAGGGCCGGCTTCCTGAC	0.587													A	85953745	G	A	85953745	3	1	273	1	0	0	0	0	1	0	0	0	7836	1116	39	1	1045	1	IRF8	16	85953745	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1263017	85953745	4401008	1486	138783											
JPH3	57338	broad.mit.edu	37	chr16	87678349	87678349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccgagacctacgtgGgcgagtggaagaacgacaaa	12	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:87678349G>T	uc002fkd.2	+	2	1122	c.868G>T	c.(868-870)GGC>TGC	p.G290C	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	290	Cytoplasmic (Potential).|MORN 7.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GACCTACGTGGGCGAGTGGAA	0.672													T	87678349	G	T	87678349	3	4	273	1	0	0	0	0	1	0	0	0	7962	1232	43	5	874	5	JPH3	16	87678349	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1724604	87678349	2676404	1487	138784											
ZC3H18	124245	broad.mit.edu	37	chr16	88691141	88691142	+	Frame_Shift_Ins	INS	-	-	C													aaggagcggccagccaggacINScccccccaggaggtgagcac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:88691140_88691141A>AC	uc010voz.2	+	12	2301_2302	c.2101_2102A>AC	c.(2101-2103)accfs	p.T701fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.T677fs|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	677	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R680fs*5(1)		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)		GCCAGCCAGGACCCCCCCCAGG	0.663													C	88691142	-	C	88691141	7	5	273	1	0	1	1	0	0	0	0	0	17565	507	18	0	2072	0	ZC3H18	16	88691141	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1012792	88691141	1663612	1488	138785											
SNAI3	333929	broad.mit.edu	37	chr16	88744962	88744962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcttggcgtctgagtgcGtttgcagatgggcccgaagg	15	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:88744962G>A	uc002flj.2	-	3	841	c.773C>T	c.(772-774)ACG>ATG	p.T258M	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	258	C2H2-type 4.				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		GTCTGAGTGCGTTTGCAGATG	0.672													A	88744962	G	A	88744962	3	1	273	1	0	0	0	0	1	0	0	0	14828	1145	40	1	109	1	SNAI3	16	88744962	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	53821	88744962	1609791	1489	138786											
ANKRD11	29123	broad.mit.edu	37	chr16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-													ctttccttatcggggccatcCttcttctccttctctcgtgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:89349914_89349916delCTT	uc002fmx.1	-	9	3495_3497	c.3034_3036delAAG	c.(3034-3036)AAGdel	p.K1012del	ANKRD11_uc002fmy.1_In_Frame_Del_p.K1012del|ANKRD11_uc002fnc.1_In_Frame_Del_p.K1012del|ANKRD11_uc002fnb.1_In_Frame_Del_p.K969del	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1012	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		CGGGGCCATCCTTCTTCTCCTTC	0.512													-	89349916	CTT	-	89349914	7	5	273	1	0	1	0	1	0	0	0	0	639	680	24	0	4975	0	ANKRD11	16	89349914	In_Frame_Del	DEL	CTT	TCGA-HU-A4GT-01A-21D-A25D-08	604952	89349914	1004839	1490	138787											
SPG7	6687	broad.mit.edu	37	chr16	89598458	89598458	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgatggccggcccagagttCgtggaggtcattggaggtag	18	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:89598458C>T	uc002fnj.2	+	8	1155	c.1134C>T	c.(1132-1134)TTC>TTT	p.F378F	SPG7_uc002fni.2_Silent_p.F378F	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	378	Mitochondrial matrix (Potential).				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				0		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)		GCCCAGAGTTCGTGGAGGTCA	0.657													T	89598458	C	T	89598458	2	4	273	1	0	0	0	0	0	0	0	1	15043	883	31	1		1	SPG7	16	89598458	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	248544	89598458	756295	1491	138788											
SPIRE2	84501	broad.mit.edu	37	chr16	89936599	89936599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccgcaagagcgtggaCgtcctcaacactacgccacg	10	16	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:89936599C>T	uc002foz.1	+	15	2116	c.2064C>T	c.(2062-2064)GAC>GAT	p.D688D	SPIRE2_uc010ciw.1_Silent_p.D640D|SPIRE2_uc002fpa.1_Silent_p.D640D|SPIRE2_uc010cix.1_Silent_p.D555D	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	688					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGAGCGTGGACGTCCTCAACA	0.597													T	89936599	C	T	89936599	2	4	273	1	0	0	0	0	0	0	0	1	15071	535	19	1		1	SPIRE2	16	89936599	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	338141	89936599	418154	1492	138789											
PRDM7	11105	broad.mit.edu	37	chr16	90127015	90127015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgctcttcatcatcccGggcacagttcacatacctgg	8	14	5	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:90127015G>A	uc010cje.2	-	9	987	c.967C>T	c.(967-969)CGG>TGG	p.R323W	PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.R117W	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	323	SET.					chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCATCATCCCGGGCACAGTTC	0.537													A	90127015	G	A	90127015	3	1	273	1	0	0	0	0	1	0	0	0	12461	1115	39	1	519	1	PRDM7	16	90127015	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	190416	90127015	227738	1493	138790											
RPH3AL	9501	broad.mit.edu	37	chr17	97064	97064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagaaccaggcccccgAcctcttccagacctgagtgg	10	14	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:97064A>G	uc002frd.1	-	5	495	c.451T>C	c.(451-453)TCG>CCG	p.S151P	RPH3AL_uc010vpy.1_Missense_Mutation_p.S151P|RPH3AL_uc002fre.1_Missense_Mutation_p.S151P|RPH3AL_uc002frf.1_Missense_Mutation_p.S122P|RPH3AL_uc010cjl.1_Missense_Mutation_p.S122P	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	151	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				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)		CAGGCCCCCGACCTCTTCCAG	0.637													G	97064	A	G	97064	3	3	273	1	0	0	0	0	1	0	0	0	13552	275	10	3	512	3	RPH3AL	17	97064	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08		97064	81098146	1494	138791											
SERPINF2	5345	broad.mit.edu	37	chr17	1657565	1657565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattgccatgtcccgcatgTccctgtcctccttcagcgtg	9	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:1657565T>C	uc002ftk.1	+	10	1290	c.1213T>C	c.(1213-1215)TCC>CCC	p.S405P	SERPINF2_uc010vqr.1_Missense_Mutation_p.S341P	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	405		Reactive bond for chymotrypsin.			acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GTCCCGCATGTCCCTGTCCTC	0.657													C	1657565	T	C	1657565	3	2	273	1	0	0	0	0	1	0	0	0	14115	1667	58	3	1257	3	SERPINF2	17	1657565	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1560501	1657565	79537645	1495	138792											
SHPK	23729	broad.mit.edu	37	chr17	3514088	3514088	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaatgcctcggcacagAgcccgggtcacgtgccccag	12	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:3514088A>G	uc002fvz.1	-	7	1306	c.1203T>C	c.(1201-1203)GCT>GCC	p.A401A	TRPV1_uc010vru.1_5'Flank	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	carbohydrate kinase-like	401					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			ovary(1)	1				COAD - Colon adenocarcinoma(5;0.0828)		CTCGGCACAGAGCCCGGGTCA	0.647													G	3514088	A	G	3514088	2	3	273	1	0	0	0	0	0	0	0	1	14290	291	11	3		3	SHPK	17	3514088	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1856523	3514088	77681122	1496	138793											
GSG2	83903	broad.mit.edu	37	chr17	3627639	3627639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccgctccgacttccgcCcttccccagccgcgactccg	9	23	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:3627639C>T	uc002fwp.2	+	1	443	c.410C>T	c.(409-411)CCC>CTC	p.P137L	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	137					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						CGACTTCCGCCCTTCCCCAGC	0.726													T	3627639	C	T	3627639	3	4	273	1	0	0	0	0	1	0	0	0	6822	623	22	4	412	4	GSG2	17	3627639	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	113551	3627639	77567571	1497	138794											
ALOX15	246	broad.mit.edu	37	chr17	4536710	4536710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctttctcttcccataccTggtcgaaaattcccatgtca	4	15	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:4536710T>C	uc002fyh.2	-	9	1261	c.1247A>G	c.(1246-1248)CAG>CGG	p.Q416R	ALOX15_uc010vsd.1_Missense_Mutation_p.Q377R|ALOX15_uc010vse.1_Missense_Mutation_p.Q438R	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	416	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TTCCCATACCTGGTCGAAAAT	0.522													C	4536710	T	C	4536710	3	2	273	1	0	0	0	0	1	0	0	0	538	1594	55	3	765	3	ALOX15	17	4536710	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	909071	4536710	76658500	1498	138795											
RABEP1	9135	broad.mit.edu	37	chr17	5281517	5281517	+	Frame_Shift_Del	DEL	A	A	-													attagaaagaataaaagtggAaaaaggacaggtaagtcgtg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:5281517delA	uc002gbm.3	+	15	2485	c.2261delA	c.(2260-2262)GAAfs	p.E754fs	RABEP1_uc010cld.1_Frame_Shift_Del_p.E711fs|RABEP1_uc010vsw.1_Frame_Shift_Del_p.E711fs|RABEP1_uc002gbl.3_Frame_Shift_Del_p.E754fs|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	754	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						ATAAAAGTGGAAAAAGGACAG	0.249													-	5281517	A	-	5281517	7	5	273	1	0	1	0	1	0	0	0	0	12961	246	9	0	2319	0	RABEP1	17	5281517	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	744807	5281517	75913693	1499	138796											
ALOX12	239	broad.mit.edu	37	chr17	6913275	6913275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacagtttcttcctccagCtggactggtatgcctgggtc	11	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:6913275C>T	uc002gdx.3	+	13	1695	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L	uc002gdy.1_Intron|ALOX12_uc002gdz.3_Silent_p.L18L|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	548	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			central_nervous_system(1)	1						CTTCCTCCAGCTGGACTGGTA	0.557													T	6913275	C	T	6913275	2	4	273	1	0	0	0	0	0	0	0	1	536	811	28	2		2	ALOX12	17	6913275	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1631758	6913275	74281935	1500	138797											
SLC16A13	201232	broad.mit.edu	37	chr17	6941568	6941568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggctggcactgacaggCgtgggcctctcctccttcac	12	16	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:6941568C>T	uc002geh.2	+	3	749	c.441C>T	c.(439-441)GGC>GGT	p.G147G		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	147	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						CACTGACAGGCGTGGGCCTCT	0.647													T	6941568	C	T	6941568	2	4	273	1	0	0	0	0	0	0	0	1	14406	755	27	1		1	SLC16A13	17	6941568	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	28293	6941568	74253642	1501	138798											
SLC16A13	201232	broad.mit.edu	37	chr17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcacatttgcccccTttttccagtggctgctcagc	6	17	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:6941599T>C	uc002geh.2	+	3	780	c.472T>C	c.(472-474)TTT>CTT	p.F158L		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	158	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						ATTTGCCCCCTTTTTCCAGTG	0.652													C	6941599	T	C	6941599	3	2	273	1	0	0	0	0	1	0	0	0	14406	1609	56	3	482	3	SLC16A13	17	6941599	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	31	6941599	74253611	1502	138799											
ACADVL	37	broad.mit.edu	37	chr17	7125995	7125995	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacacagtgggcccccTgagaagaagatgggcatcaa	12	12	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7125995T>C	uc002gev.2	+	10	1039	c.888T>C	c.(886-888)CCT>CCC	p.P296P	DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Silent_p.P306P|ACADVL_uc010vtq.1_3'UTR|ACADVL_uc002gew.2_Silent_p.P274P|ACADVL_uc002gex.2_Silent_p.P220P	NM_000018	NP_000009	P49748	ACADV_HUMAN	acyl-Coenzyme A dehydrogenase, very long chain	296	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			ovary(3)	3						GTGGGCCCCCTGAGAAGAAGA	0.557													C	7125995	T	C	7125995	2	2	273	1	0	0	0	0	0	0	0	1	116	1567	55	3		3	ACADVL	17	7125995	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	184396	7125995	74069215	1503	138800											
C17orf74	201243	broad.mit.edu	37	chr17	7330046	7330046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgctgcatgcccaagCgtgtagaggccaggtctgag	15	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7330046C>T	uc002ggw.2	+	3	809	c.736C>T	c.(736-738)CGT>TGT	p.R246C	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	246						integral to membrane					0		Prostate(122;0.157)				CATGCCCAAGCGTGTAGAGGC	0.647													T	7330046	C	T	7330046	3	4	273	1	0	0	0	0	1	0	0	0	1879	768	27	1	746	1	C17orf74	17	7330046	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	204051	7330046	73865164	1504	138801											
TMEM102	284114	broad.mit.edu	37	chr17	7339931	7339931	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttggaaaaatcgcctagTgacgtttcagcgtccgagtc	10	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7339931T>C	uc002ggx.1	+	3	906	c.633T>C	c.(631-633)AGT>AGC	p.S211S	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.S211S	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	211	Extracellular (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				AATCGCCTAGTGACGTTTCAG	0.557													C	7339931	T	C	7339931	2	2	273	1	0	0	0	0	0	0	0	1	16014	1693	59	3		3	TMEM102	17	7339931	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	9885	7339931	73855279	1505	138802											
CHRNB1	1140	broad.mit.edu	37	chr17	7359206	7359208	+	In_Frame_Del	DEL	CTC	CTC	-													ccggagctacgggaggtcgtCtcctctatcagctacatcgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7359206_7359208delCTC	uc002ghb.2	+	10	1352_1354	c.1311_1313delCTC	c.(1309-1314)GTCTCC>GTC	p.S439del	CHRNB1_uc010vty.1_In_Frame_Del_p.S367del	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	439	Cytoplasmic (Potential).				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			ovary(2)	2		Prostate(122;0.157)				GGGAGGTCGTCTCCTCTATCAGC	0.606													-	7359208	CTC	-	7359206	7	5	273	1	0	1	0	1	0	0	0	0	3390	900	32	0	1349	0	CHRNB1	17	7359206	In_Frame_Del	DEL	CTC	TCGA-HU-A4GT-01A-21D-A25D-08	19275	7359206	73836004	1506	138803											
POLR2A	5430	broad.mit.edu	37	chr17	7402384	7402384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcacatgtgtgatggggaCattgttatcttcaaccggca	12	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7402384C>T	uc002ghf.3	+	9	1596	c.1362C>T	c.(1360-1362)GAC>GAT	p.D454D	POLR2A_uc002ghe.2_Silent_p.D454D	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	454					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			pancreas(1)	1		Prostate(122;0.173)				GTGATGGGGACATTGTTATCT	0.478													T	7402384	C	T	7402384	2	4	273	1	0	0	0	0	0	0	0	1	12214	477	17	4		4	POLR2A	17	7402384	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	43178	7402384	73792826	1507	138804											
FXR2	9513	broad.mit.edu	37	chr17	7496047	7496047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttgggcccatctgatTccaggcctccatccatgacg	9	14	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7496047T>C	uc002gia.1	-	14	1921	c.1694A>G	c.(1693-1695)GAA>GGA	p.E565G	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	565						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		CCCATCTGATTCCAGGCCTCC	0.622													C	7496047	T	C	7496047	3	2	273	1	0	0	0	0	1	0	0	0	6116	1783	62	3	243	3	FXR2	17	7496047	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	93663	7496047	73699163	1508	138805											
DNAH2	146754	broad.mit.edu	37	chr17	7734796	7734796	+	Frame_Shift_Del	DEL	C	C	-													actgctagctctcgacccctCccccctcaatgtggtccttc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7734795_7734795TC>T	uc002giu.1	+	79	12561	c.12547_12547TC>T	c.(12547-12549)tccfs	p.S4183fs	DNAH2_uc010cnm.1_Frame_Shift_Del_p.S1121fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4183					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)				TCTCGACCCCTCCCCCCTCAA	0.552													-	7734796	C	-	7734796	7	5	273	1	0	1	0	1	0	0	0	0	4602	855	30	0	12866	0	DNAH2	17	7734796	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	238749	7734796	73460414	1509	138806											
CNTROB	116840	broad.mit.edu	37	chr17	7849161	7849161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtattgcagcagagccGggaagcaagggacgagctac	15	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7849161G>A	uc002gjq.2	+	14	2769	c.1850G>A	c.(1849-1851)CGG>CAG	p.R617Q	CNTROB_uc002gjp.2_Missense_Mutation_p.R617Q|CNTROB_uc002gjr.2_Missense_Mutation_p.R519Q	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	617	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CAGCAGAGCCGGGAAGCAAGG	0.617													A	7849161	G	A	7849161	3	1	273	1	0	0	0	0	1	0	0	0	3651	1116	39	1	1900	1	CNTROB	17	7849161	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	114365	7849161	73346049	1510	138807											
CNTROB	116840	broad.mit.edu	37	chr17	7851561	7851561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaagttcccttagccAtggcatccagtcttttccgg	7	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7851561A>G	uc002gjq.2	+	17	3215	c.2296A>G	c.(2296-2298)ATG>GTG	p.M766V	CNTROB_uc002gjp.2_Missense_Mutation_p.M766V|CNTROB_uc002gjr.2_Missense_Mutation_p.M668V	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	766	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				TCCCTTAGCCATGGCATCCAG	0.557													G	7851561	A	G	7851561	3	3	273	1	0	0	0	0	1	0	0	0	3651	217	8	3	2358	3	CNTROB	17	7851561	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2400	7851561	73343649	1511	138808											
CNTROB	116840	broad.mit.edu	37	chr17	7851880	7851880	+	Frame_Shift_Del	DEL	G	G	-													actctaccaggctcggggctGgggggctctgcctgctgagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7851879_7851879TG>T	uc002gjp.3	+	17	3405	c.2455_2455TG>T	c.(2455-2457)tggfs	p.W819fs	CNTROB_uc002gjq.3_Frame_Shift_Del_p.W819fs|CNTROB_uc002gjr.3_Frame_Shift_Del_p.W721fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	819	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)				GGCTCGGGGCTGGGGGGCTCT	0.577													-	7851880	G	-	7851880	7	5	273	1	0	1	0	1	0	0	0	0	3651	1357	47	0	2522	0	CNTROB	17	7851880	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	319	7851880	73343330	1512	138809											
CNTROB	116840	broad.mit.edu	37	chr17	7852809	7852810	+	Frame_Shift_Ins	INS	-	-	G													ccgagtagcatgaggagccgINSggggggagtctggagatgag					rs35508310		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7852808_7852809C>CG	uc002gjp.3	+	19	3708_3709	c.2758_2759C>CG	c.(2758-2760)cggfs	p.R920fs	CNTROB_uc002gjq.3_Frame_Shift_Ins_p.R898fs|CNTROB_uc002gjr.3_Frame_Shift_Ins_p.R801fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	898					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)				CATGAGGAGCCGGGGGGGAGTC	0.55													G	7852810	-	G	7852809	7	5	273	1	0	1	1	0	0	0	0	0	3651	1116	39	0	2833	0	CNTROB	17	7852809	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	929	7852809	73342401	1513	138810											
C17orf59	54785	broad.mit.edu	37	chr17	8092991	8092991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacggctggagaacgagcgGccggctctgctgcccgcggc	17	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8092991G>A	uc010vut.1	-	1	574	c.468C>T	c.(466-468)GGC>GGT	p.G156G		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	156											0						AGAACGAGCGGCCGGCTCTGC	0.726													A	8092991	G	A	8092991	2	1	273	1	0	0	0	0	0	0	0	1	1867	1190	42	2		2	C17orf59	17	8092991	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	240182	8092991	73102219	1514	138811											
MFSD6L	162387	broad.mit.edu	37	chr17	8701297	8701297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttctggacagtactgacgAtggctcctaccaaaacagtg	10	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8701297A>G	uc002glp.1	-	1	1290	c.1142T>C	c.(1141-1143)ATC>ACC	p.I381T		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	381	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						AGTACTGACGATGGCTCCTAC	0.577													G	8701297	A	G	8701297	3	3	273	1	0	0	0	0	1	0	0	0	9536	333	12	3	622	3	MFSD6L	17	8701297	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	608306	8701297	72493913	1515	138812											
PIK3R6	146850	broad.mit.edu	37	chr17	8738638	8738638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaggcctcccccagagcCgcctgcagggcgtgggagac	15	15	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8738638C>T	uc002glq.1	-	8	837	c.597G>A	c.(595-597)GCG>GCA	p.A199A	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	199					platelet activation	cytosol					0						CCCCCAGAGCCGCCTGCAGGG	0.672													T	8738638	C	T	8738638	2	4	273	1	0	0	0	0	0	0	0	1	11923	639	23	1		1	PIK3R6	17	8738638	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	37341	8738638	72456572	1516	138813											
PIK3R5	23533	broad.mit.edu	37	chr17	8793299	8793299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagcctcacctaacacccCagggaagccagctttttctc	7	15	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8793299C>T	uc002glt.2	-	8	869	c.802G>A	c.(802-804)GGG>AGG	p.G268R	PIK3R5_uc010vuz.1_Missense_Mutation_p.G268R|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Intron|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	268				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CCTAACACCCCAGGGAAGCCA	0.507													T	8793299	C	T	8793299	3	4	273	1	0	0	0	0	1	0	0	0	11922	594	21	4	1888	4	PIK3R5	17	8793299	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	54661	8793299	72401911	1517	138814											
MYH4	4622	broad.mit.edu	37	chr17	10361045	10361045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagaagatgcccataGgctaagaataggaaaaaagg	14	4	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:10361045G>T	uc002gmn.2	-	16	1700	c.1589C>A	c.(1588-1590)CCT>CAT	p.P530H	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	530	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			ovary(10)|skin(2)|central_nervous_system(1)	13						GATGCCCATAGGCTAAGAATA	0.398													T	10361045	G	T	10361045	3	4	273	1	0	0	0	0	1	0	0	0	10037	1014	35	5	4330	5	MYH4	17	10361045	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1567746	10361045	70834165	1518	138815											
NCOR1	9611	broad.mit.edu	37	chr17	15974750	15974750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaaccctcaattatcggCcgtgtgctctggaccacttc	9	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:15974750C>T	uc002gpo.2	-	30	4365	c.4125G>A	c.(4123-4125)CGG>CGA	p.R1375R	NCOR1_uc002gpn.2_Silent_p.R1391R|NCOR1_uc002gpp.1_Silent_p.R1282R|NCOR1_uc010vwb.1_Intron|NCOR1_uc010coy.2_Silent_p.R283R|NCOR1_uc010vwc.1_Silent_p.R186R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1375	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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAATTATCGGCCGTGTGCTCT	0.393													T	15974750	C	T	15974750	2	4	273	1	0	0	0	0	0	0	0	1	10235	726	26	2		2	NCOR1	17	15974750	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5613705	15974750	65220460	1519	138816											
PEMT	10400	broad.mit.edu	37	chr17	17415878	17415878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagagcacgagcacgacGcccagtcccaggagcgcgag	15	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:17415878G>A	uc002grj.2	-	4	367	c.300C>T	c.(298-300)GGC>GGT	p.G100G	PEMT_uc002grk.2_Silent_p.G100G|PEMT_uc002grl.2_Silent_p.G137G|PEMT_uc010vwx.1_Silent_p.G137G	NM_148173	NP_680478	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	100	Helical; (Potential).				cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity				0				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CGAGCACGACGCCCAGTCCCA	0.662													A	17415878	G	A	17415878	2	1	273	1	0	0	0	0	0	0	0	1	11726	1074	38	1		1	PEMT	17	17415878	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1441128	17415878	63779332	1520	138817											
MYO15A	51168	broad.mit.edu	37	chr17	18058637	18058637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccccagggcagcgtgGgcactggtgtgcagctccta	14	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18058637G>T	uc010vxh.1	+	46	8688	c.8350G>T	c.(8350-8352)GGC>TGC	p.G2784C	MYO15A_uc010vxi.1_Missense_Mutation_p.G48C|MYO15A_uc010vxj.1_5'UTR|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2784	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GGGCAGCGTGGGCACTGGTGT	0.647													T	18058637	G	T	18058637	3	4	273	1	0	0	0	0	1	0	0	0	10063	1232	43	5	8528	5	MYO15A	17	18058637	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	642759	18058637	63136573	1521	138818											
LGALS9C	654346	broad.mit.edu	37	chr17	18389303	18389303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgacattgccttccacttcAaccctcggtttgaagacgga	8	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18389303A>G	uc002gtw.2	+	3	257	c.187A>G	c.(187-189)AAC>GAC	p.N63D	LGALS9C_uc010vyb.1_5'UTR	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	galectin 9 like	63	Galectin 1.						sugar binding			ovary(1)	1						CTTCCACTTCAACCCTCGGTT	0.527													G	18389303	A	G	18389303	3	3	273	1	0	0	0	0	1	0	0	0	8750	130	5	3	197	3	LGALS9C	17	18389303	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	330666	18389303	62805907	1522	138819											
FBXW10	10517	broad.mit.edu	37	chr17	18651270	18651270	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagggctcaatcaagacatCacagatgtgtgtttttcccc	8	11	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18651270C>T	uc002guk.2	+	2	754	c.522C>T	c.(520-522)ATC>ATT	p.I174I	FBXW10_uc002guj.2_Silent_p.I174I|FBXW10_uc002gul.2_Silent_p.I174I|FBXW10_uc010cqh.1_Silent_p.I174I	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	174	WD 1.									ovary(1)	1						ATCAAGACATCACAGATGTGT	0.453													T	18651270	C	T	18651270	2	4	273	1	0	0	0	0	0	0	0	1	5763	816	29	4		4	FBXW10	17	18651270	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	261967	18651270	62543940	1523	138820											
SLC5A10	125206	broad.mit.edu	37	chr17	18922781	18922781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgtggcctggatcccCgtcctgcaggactccaacag	13	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18922781C>T	uc002guu.1	+	12	1328	c.1287C>T	c.(1285-1287)CCC>CCT	p.P429P	SLC5A10_uc002gur.1_Silent_p.P399P|SLC5A10_uc002gut.1_Silent_p.P445P|SLC5A10_uc002guv.1_Silent_p.P402P|SLC5A10_uc010vyl.1_Silent_p.P393P|SLC5A10_uc002gux.1_RNA	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	429	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CCTGGATCCCCGTCCTGCAGG	0.617													T	18922781	C	T	18922781	2	4	273	1	0	0	0	0	0	0	0	1	14662	639	23	1		1	SLC5A10	17	18922781	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	271511	18922781	62272429	1524	138821											
VTN	7448	broad.mit.edu	37	chr17	26697215	26697215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtatgagaaggggtctcaGgggtgccatggcagggcttc	17	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:26697215G>T	uc002hbc.2	-	1	159	c.10C>A	c.(10-12)CTG>ATG	p.L4M	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	4					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	AGGGGTCTCAGGGGTGCCATG	0.617													T	26697215	G	T	26697215	3	4	273	1	0	0	0	0	1	0	0	0	17234	991	35	5	1458	5	VTN	17	26697215	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7774434	26697215	54497995	1525	138822											
SUPT6H	6830	broad.mit.edu	37	chr17	27005857	27005857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggacccagctgcggatcCgtaaagagaacctaacacgg	12	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27005857C>T	uc002hby.2	+	11	1315	c.1225C>T	c.(1225-1227)CGT>TGT	p.R409C	SUPT6H_uc010crt.2_Missense_Mutation_p.R409C	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	409					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GCTGCGGATCCGTAAAGAGAA	0.517													T	27005857	C	T	27005857	3	4	273	1	0	0	0	0	1	0	0	0	15397	652	23	1	1263	1	SUPT6H	17	27005857	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	308642	27005857	54189353	1526	138823											
RAB34	83871	broad.mit.edu	37	chr17	27042294	27042294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcatcggccagccactgCctgccatgggaggtggaaag	16	11	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27042294C>T	uc002hce.2	-	7	1056	c.432G>A	c.(430-432)AAG>AAA	p.K144K	RAB34_uc002hcg.2_Silent_p.K144K|RAB34_uc002hcf.2_Silent_p.K145K|RAB34_uc010was.1_Silent_p.K201K|RAB34_uc010wat.1_Silent_p.K201K|RAB34_uc002hch.2_Silent_p.K144K|RAB34_uc010wau.1_Silent_p.K122K|RAB34_uc010wav.1_Silent_p.K202K	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	144					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CCAGCCACTGCCTGCCATGGG	0.557													T	27042294	C	T	27042294	2	4	273	1	0	0	0	0	0	0	0	1	12924	753	26	2		2	RAB34	17	27042294	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	36437	27042294	54152916	1527	138824											
FLOT2	2319	broad.mit.edu	37	chr17	27211248	27211248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagttactatacctgggCgacacccgtcacagttaaag	10	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27211248C>T	uc002hdc.2	-	3	340	c.217G>A	c.(217-219)GCC>ACC	p.A73T		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	73					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	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)			TATACCTGGGCGACACCCGTC	0.612													T	27211248	C	T	27211248	3	4	273	1	0	0	0	0	1	0	0	0	5937	768	27	1	1105	1	FLOT2	17	27211248	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	168954	27211248	53983962	1528	138825											
MYO18A	399687	broad.mit.edu	37	chr17	27493332	27493332	+	Frame_Shift_Del	DEL	G	G	-													ggtgggggcaggggcaccacGgggggcaggcgcaggtcgac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27493332delG	uc002hdt.1	-	2	785	c.627delC	c.(625-627)CCCfs	p.P209fs	MYO18A_uc010csa.1_Frame_Shift_Del_p.P209fs|MYO18A_uc002hdu.1_Frame_Shift_Del_p.P209fs	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	209					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			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)			GGGGCACCACGGGGGGCAGGC	0.662													-	27493332	G	-	27493332	7	5	273	1	0	1	0	1	0	0	0	0	10065	1103	39	0	5701	0	MYO18A	17	27493332	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	282084	27493332	53701878	1529	138826											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939969	27939969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatgtcctacgagggtcGccgacaggacaggtcagtgc	13	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27939969G>A	uc002hei.2	+	14	1753	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	ANKRD13B_uc002heh.2_Missense_Mutation_p.R415H|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_Missense_Mutation_p.R57H	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	547											0						TACGAGGGTCGCCGACAGGAC	0.687													A	27939969	G	A	27939969	3	1	273	1	0	0	0	0	1	0	0	0	642	1087	38	1	1694	1	ANKRD13B	17	27939969	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	446637	27939969	53255241	1530	138827											
BLMH	642	broad.mit.edu	37	chr17	28593903	28593903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattaccaaactgagctcacCtttgtggccatggtcttcac	7	12	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:28593903C>A	uc002hez.1	-	11	1453	c.1216G>T	c.(1216-1218)GGT>TGT	p.G406C	BLMH_uc010wbn.1_Missense_Mutation_p.G319C	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	406					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						CTGAGCTCACCTTTGTGGCCA	0.478													A	28593903	C	A	28593903	3	1	273	1	0	0	0	0	1	0	0	0	1446	695	24	5	159	5	BLMH	17	28593903	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	653934	28593903	52601307	1531	138828											
CPD	1362	broad.mit.edu	37	chr17	28791794	28791794	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgagttccaggatgaaacaGacactgaagaggaaacatta	10	6	0	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:28791794G>T	uc002hfb.1	+	21	4120	c.4105G>T	c.(4105-4107)GAC>TAC	p.D1369Y	CPD_uc010wbo.1_Missense_Mutation_p.D1122Y|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1369	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GGATGAAACAGACACTGAAGA	0.423													T	28791794	G	T	28791794	3	4	273	1	0	0	0	0	1	0	0	0	3798	942	33	5	4187	5	CPD	17	28791794	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	197891	28791794	52403416	1532	138829											
C17orf42	79736	broad.mit.edu	37	chr17	29233199	29233199	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accctacctcccgccgtgaaGaggacagacccgctcatctc	8	18	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29233199G>T	uc002hfu.2	-	1	88	c.18C>A	c.(16-18)CTC>CTA	p.L6L	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Silent_p.L6L|C17orf42_uc010wbs.1_Silent_p.L6L	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	6					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCGCCGTGAAGAGGACAGACC	0.577													T	29233199	G	T	29233199	2	4	273	1	0	0	0	0	0	0	0	1	1856	929	33	5		5	C17orf42	17	29233199	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	441405	29233199	51962011	1533	138830											
NF1	4763	broad.mit.edu	37	chr17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattgtgcaaaattaaaaCgactcctgaagggtaagttt	10	5	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29497003C>T	uc002hgg.2	+	5	907	c.574C>T	c.(574-576)CGA>TGA	p.R192*	NF1_uc002hge.1_Nonsense_Mutation_p.R192*|NF1_uc002hgf.1_Nonsense_Mutation_p.R192*|NF1_uc002hgh.2_Nonsense_Mutation_p.R192*|NF1_uc010csn.1_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	192					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.R192*(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		AAAATTAAAACGACTCCTGAA	0.284			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)			T	29497003	C	T	29497003	4	4	273	1	0	0	0	0	0	1	0	0	10356	528	19	1	592	1	NF1	17	29497003	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	263804	29497003	51698207	1534	138831											
NF1	4763	broad.mit.edu	37	chr17	29556375	29556375	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtgggacttcaaatacgGaccaatgttaaggatctggt	11	6	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29556375G>A	uc002hgg.2	+	21	3075	c.2742G>A	c.(2740-2742)CGG>CGA	p.R914R	NF1_uc002hgh.2_Silent_p.R914R|NF1_uc010csn.1_Silent_p.R774R|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	914					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.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		TTCAAATACGGACCAATGTTA	0.418			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)			A	29556375	G	A	29556375	2	1	273	1	0	0	0	0	0	0	0	1	10356	1161	41	4		4	NF1	17	29556375	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	59372	29556375	51638835	1535	138832											
NF1	4763	broad.mit.edu	37	chr17	29677285	29677285	+	Frame_Shift_Del	DEL	A	A	-													tcttactgatatttcaatggAaaatgttcctatggatacat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29677285delA	uc002hgg.2	+	50	7739	c.7406delA	c.(7405-7407)GAAfs	p.E2469fs	NF1_uc002hgh.2_Frame_Shift_Del_p.E2448fs|NF1_uc010cso.2_Frame_Shift_Del_p.E657fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2469					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			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		ATTTCAATGGAAAATGTTCCT	0.353			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)			-	29677285	A	-	29677285	7	5	273	1	0	1	0	1	0	0	0	0	10356	246	9	0	7665	0	NF1	17	29677285	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	120910	29677285	51517925	1536	138833											
AP2B1	163	broad.mit.edu	37	chr17	33998862	33998862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtggactgaatgacctGtttgaactctccacagggat	11	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:33998862G>A	uc002hjr.2	+	15	2268	c.2079G>A	c.(2077-2079)CTG>CTA	p.L693L	AP2B1_uc002hjq.2_Silent_p.L707L|AP2B1_uc010wci.1_Silent_p.L669L|AP2B1_uc002hjs.2_Silent_p.L636L|AP2B1_uc002hjt.2_Silent_p.L707L|AP2B1_uc010ctv.2_Silent_p.L707L|AP2B1_uc010wcj.1_Silent_p.L444L	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	693	Pro-rich (stalk region).				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			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGAATGACCTGTTTGAACTCT	0.493													A	33998862	G	A	33998862	2	1	273	1	0	0	0	0	0	0	0	1	741	1364	48	4		4	AP2B1	17	33998862	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4321577	33998862	47196348	1537	138834											
TAF15	8148	broad.mit.edu	37	chr17	34173933	34173933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactacagaaatgatcagcGcaaccgaccatactgatgac	8	12	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:34173933G>A	uc002hkd.2	+	16	1849	c.1763G>A	c.(1762-1764)CGC>CAC	p.R588H	TAF15_uc002hkc.2_Missense_Mutation_p.R585H	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	588	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)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATCAGCGCAACCGACCA	0.428			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								A	34173933	G	A	34173933	3	1	273	1	0	0	0	0	1	0	0	0	15515	1087	38	1	1825	1	TAF15	17	34173933	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	175071	34173933	47021277	1538	138835											
PGAP3	93210	broad.mit.edu	37	chr17	37830251	37830251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcaggctcacctgacGcagcacaggtagattgagtg	13	12	1	3	rs147768703	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:37830251G>A	uc002hsj.2	-	5	595	c.552C>T	c.(550-552)TGC>TGT	p.C184C	PGAP3_uc010cvy.2_RNA|PGAP3_uc010wej.1_Silent_p.C163C|PGAP3_uc002hsk.2_Silent_p.C133C|PGAP3_uc010cvz.2_Intron	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	per1-like domain containing 1 precursor	184	Helical; (Potential).				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			upper_aerodigestive_tract(1)	1						CTCACCTGACGCAGCACAGGT	0.587													A	37830251	G	A	37830251	2	1	273	1	0	0	0	0	0	0	0	1	11779	1079	38	1		1	PGAP3	17	37830251	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3656318	37830251	43364959	1539	138836											
IKZF3	22806	broad.mit.edu	37	chr17	37947731	37947731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcatagttgcagaggTgacacttaaaaggtttttcc	11	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:37947731T>C	uc002hsu.2	-	5	592	c.530A>G	c.(529-531)CAC>CGC	p.H177R	IKZF3_uc002htd.2_Missense_Mutation_p.H143R|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.H143R|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.H177R|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.H177R|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.H177R|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.H90R|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	177	C2H2-type 3.				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			lung(2)|kidney(2)|skin(2)	6	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)			GTTGCAGAGGTGACACTTAAA	0.473													C	37947731	T	C	37947731	3	2	273	1	0	0	0	0	1	0	0	0	7616	1696	59	3	1015	3	IKZF3	17	37947731	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	117480	37947731	43247479	1540	138837											
THRA	7067	broad.mit.edu	37	chr17	38249548	38249548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcggtctgtggggaagaCgacagcagtgaggcggactc	18	9	1	2	rs149579879		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:38249548C>T	uc002htw.2	+	10	1869	c.1386C>T	c.(1384-1386)GAC>GAT	p.D462D	THRA_uc002htx.2_Silent_p.D423D|NR1D1_uc002htz.1_Intron|NR1D1_uc010cwq.1_Intron	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	462					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				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTGGGGAAGACGACAGCAGTG	0.652													T	38249548	C	T	38249548	2	4	273	1	0	0	0	0	0	0	0	1	15870	535	19	1		1	THRA	17	38249548	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	301817	38249548	42945662	1541	138838											
KRT34	3885	broad.mit.edu	37	chr17	39535728	39535728	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgcttgttcagctcctcGgtctgaaacacccaagtggg	10	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:39535728G>T	uc002hwm.2	-	5	891	c.879C>A	c.(877-879)ACC>ACA	p.T293T		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	293	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TCAGCTCCTCGGTCTGAAACA	0.612													T	39535728	G	T	39535728	2	4	273	1	0	0	0	0	0	0	0	1	8471	1103	39	5		5	KRT34	17	39535728	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1286180	39535728	41659482	1542	138839											
JUP	3728	broad.mit.edu	37	chr17	39923835	39923835	+	Splice_Site	DEL	G	G	-													accgactccacaggggagctGggggggtgggcaggggttag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:39923834_39923834TG>T	uc002hxq.2	-	5	985	c.708_splice	c.e5-1	p.S236_splice	JUP_uc010wfs.2_Splice_Site_p.S236_splice|JUP_uc002hxr.2_Splice_Site_p.S236_splice|JUP_uc002hxs.2_Splice_Site_p.S236_splice	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	236					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 Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase 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)		ACAGGGGAGCTGGGGGGGTGG	0.662													-	39923835	G	-	39923835	8	5	273	1	0	1	0	1	0	0	1	0	7972	1363	47	0		0	JUP	17	39923835	Splice_Site	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	388107	39923835	41271375	1543	138840											
CNTNAP1	8506	broad.mit.edu	37	chr17	40842128	40842128	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtataaggaatcctgtgaGgcttatcggctcagtgggaa	13	6	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:40842128G>T	uc002iay.2	+	12	1974	c.1758G>T	c.(1756-1758)GAG>GAT	p.E586D	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	586	Extracellular (Potential).|Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AATCCTGTGAGGCTTATCGGC	0.398													T	40842128	G	T	40842128	3	4	273	1	0	0	0	0	1	0	0	0	3646	991	35	5	1804	5	CNTNAP1	17	40842128	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	918293	40842128	40353082	1544	138841											
ATXN7L3	56970	broad.mit.edu	37	chr17	42271658	42271658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatcatagatgctgggCgtcgggggtgccggtggctt	17	8	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:42271658C>T	uc002iga.2	-	12	1108	c.1017G>A	c.(1015-1017)ACG>ACA	p.T339T	ATXN7L3_uc010wiv.1_Silent_p.T121T|ATXN7L3_uc002ifz.2_Silent_p.T346T	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	339					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				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGATGCTGGGCGTCGGGGGTG	0.567													T	42271658	C	T	42271658	2	4	273	1	0	0	0	0	0	0	0	1	1218	755	27	1		1	ATXN7L3	17	42271658	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1429530	42271658	38923552	1545	138842											
SLC4A1	6521	broad.mit.edu	37	chr17	42328569	42328569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgagcggcagcaggacGcgccgcagcggcacagtgag	17	11	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:42328569G>A	uc002igf.3	-	19	2762	c.2613C>T	c.(2611-2613)CGC>CGT	p.R871R		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	871	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			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCAGCAGGACGCGCCGCAGCG	0.662													A	42328569	G	A	42328569	2	1	273	1	0	0	0	0	0	0	0	1	14650	1074	38	1		1	SLC4A1	17	42328569	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	56911	42328569	38866641	1546	138843											
SLC25A39	51629	broad.mit.edu	37	chr17	42399085	42399085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagggtggcggggaggccGctccagagggtcctggtgcc	19	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:42399085G>A	uc002ign.2	-	6	529	c.375C>T	c.(373-375)AGC>AGT	p.S125S	SLC25A39_uc002igm.2_Silent_p.S117S|SLC25A39_uc002igo.2_Silent_p.S117S|SLC25A39_uc010wiw.1_Silent_p.S102S|SLC25A39_uc010czu.2_5'UTR|SLC25A39_uc010wix.1_Silent_p.S117S|SLC25A39_uc010wiy.1_Silent_p.S110S	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	125	Helical; Name=2; (Potential).|Solcar 1.				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGGGAGGCCGCTCCAGAGGG	0.627													A	42399085	G	A	42399085	2	1	273	1	0	0	0	0	0	0	0	1	14503	1078	38	1		1	SLC25A39	17	42399085	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	70516	42399085	38796125	1547	138844											
ARHGAP27	201176	broad.mit.edu	37	chr17	43474298	43474298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctgcattcggtcgcgcGtcctcctctttctcctgcca	7	18	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:43474298G>A	uc002iix.2	-	11	1361	c.912C>T	c.(910-912)GAC>GAT	p.D304D	ARHGAP27_uc010dak.2_Silent_p.D277D	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	645					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					TCGGTCGCGCGTCCTCCTCTT	0.672													A	43474298	G	A	43474298	2	1	273	1	0	0	0	0	0	0	0	1	876	1136	40	1		1	ARHGAP27	17	43474298	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1075213	43474298	37720912	1548	138845											
IMP5	162540	broad.mit.edu	37	chr17	43922605	43922605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgaaaggctggctggctcaGggccaaggtgcccacgggct	16	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:43922605G>T	uc010wka.1	+	1	333	c.333G>T	c.(331-333)CAG>CAT	p.Q111H	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	111	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCTGGCTCAGGGCCAAGGTG	0.682													T	43922605	G	T	43922605	3	4	273	1	0	0	0	0	1	0	0	0	7721	991	35	5	335	5	IMP5	17	43922605	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	448307	43922605	37272605	1549	138846											
MAPT	4137	broad.mit.edu	37	chr17	44039781	44039781	+	Frame_Shift_Del	DEL	G	G	-													ttgggggacaggaaagatcaGgggggctacaccatgcacca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:44039781delG	uc002ijr.3	+	2	398	c.78delG	c.(76-78)CAGfs	p.Q26fs	MAPT_uc010dau.2_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijs.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijx.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijt.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002iju.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijv.3_Frame_Shift_Del_p.Q26fs	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	26					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			pancreas(1)	1		Melanoma(429;0.216)				GGAAAGATCAGGGGGGCTACA	0.592													-	44039781	G	-	44039781	7	5	273	1	0	1	0	1	0	0	0	0	9297	991	35	0	80	0	MAPT	17	44039781	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	117176	44039781	37155429	1550	138847											
ITGB3	3690	broad.mit.edu	37	chr17	45369851	45369851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaatgtgtctgccacaGcagtgactttggcaagatca	11	9	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:45369851G>A	uc002ilj.2	+	10	1627	c.1607G>A	c.(1606-1608)AGC>AAC	p.S536N	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	536	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				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			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	GTCTGCCACAGCAGTGACTTT	0.612													A	45369851	G	A	45369851	3	1	273	1	0	0	0	0	1	0	0	0	7895	971	34	2	1645	2	ITGB3	17	45369851	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1330070	45369851	35825359	1551	138848											
C17orf57	124989	broad.mit.edu	37	chr17	45517988	45517988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagtaagaagcaatacaatAtgaatataaaacaacacaag	5	5	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:45517988A>G	uc002iln.2	+	25	3241	c.2830A>G	c.(2830-2832)ATG>GTG	p.M944V		NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	944							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						GCAATACAATATGAATATAAA	0.313													G	45517988	A	G	45517988	3	3	273	1	0	0	0	0	1	0	0	0	1865	449	16	3	2916	3	C17orf57	17	45517988	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	148137	45517988	35677222	1552	138849											
KPNB1	3837	broad.mit.edu	37	chr17	45734239	45734239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggttttgcagacatTgggtacagaaacttaccggc	13	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:45734239T>C	uc002ilt.1	+	4	632	c.296T>C	c.(295-297)TTG>TCG	p.L99S	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	99	Importin N-terminal.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TTGCAGACATTGGGTACAGAA	0.428													C	45734239	T	C	45734239	3	2	273	1	0	0	0	0	1	0	0	0	8435	1821	63	3	310	3	KPNB1	17	45734239	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	216251	45734239	35460971	1553	138850											
CBX1	10951	broad.mit.edu	37	chr17	46152453	46152453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgagcaaagcctcgtgGcttttctgactgtaaaaaca	8	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46152453G>A	uc002ind.3	-	4	809	c.328C>T	c.(328-330)CCA>TCA	p.P110S	CBX1_uc002ine.3_Missense_Mutation_p.P110S	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	110						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						AAGCCTCGTGGCTTTTCTGAC	0.453													A	46152453	G	A	46152453	3	1	273	1	0	0	0	0	1	0	0	0	2717	1203	42	2	237	2	CBX1	17	46152453	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	418214	46152453	35042757	1554	138851											
HOXB1	3211	broad.mit.edu	37	chr17	46608177	46608177	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagccgagcttgggggaaaGgaggttggggcgctgtgggc	22	6	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46608177G>T	uc002ink.1	-	1	96	c.90C>A	c.(88-90)TCC>TCA	p.S30S		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	30						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTGGGGGAAAGGAGGTTGGGG	0.612													T	46608177	G	T	46608177	2	4	273	1	0	0	0	0	0	0	0	1	7299	987	35	5		5	HOXB1	17	46608177	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	455724	46608177	34587033	1555	138852											
HOXB2	3212	broad.mit.edu	37	chr17	46620969	46620969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtgaggtccagcaaggCcgcgatctcgacgcggcgtg	16	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46620969C>T	uc002inm.2	-	2	652	c.532G>A	c.(532-534)GCC>ACC	p.A178T		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	178	Homeobox.				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCCAGCAAGGCCGCGATCTCG	0.607													T	46620969	C	T	46620969	3	4	273	1	0	0	0	0	1	0	0	0	7301	739	26	2	542	2	HOXB2	17	46620969	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	12792	46620969	34574241	1556	138853											
HOXB7	3217	broad.mit.edu	37	chr17	46685362	46685362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgatctcgatgcgccGccgccgcgtcaggtagcgat	15	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46685362G>A	uc002inv.2	-	2	599	c.496C>T	c.(496-498)CGG>TGG	p.R166W		NM_004502	NP_004493	P09629	HXB7_HUMAN	homeobox B7	166	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCGATGCGCCGCCGCCGCGTC	0.567													A	46685362	G	A	46685362	3	1	273	1	0	0	0	0	1	0	0	0	7306	1086	38	1	161	1	HOXB7	17	46685362	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	64393	46685362	34509848	1557	138854											
ACSF2	80221	broad.mit.edu	37	chr17	48551125	48551125	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatctaccccgcagagctCgaggacttctttcacacaca	6	15	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:48551125C>T	uc002iqu.2	+	13	1679	c.1575C>T	c.(1573-1575)CTC>CTT	p.L525L	ACSF2_uc010wml.1_Silent_p.L482L|ACSF2_uc010wmm.1_Silent_p.L550L|ACSF2_uc010wmn.1_Silent_p.L512L|ACSF2_uc010wmo.1_Silent_p.L365L|ACSF2_uc010dbt.1_Silent_p.L29L	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	525					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGCAGAGCTCGAGGACTTCT	0.547													T	48551125	C	T	48551125	2	4	273	1	0	0	0	0	0	0	0	1	175	871	31	1		1	ACSF2	17	48551125	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1865763	48551125	32644085	1558	138855											
LUC7L3	51747	broad.mit.edu	37	chr17	48797184	48797184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaacgtgcggtgggacCacgagagcgtaagtcccgcg	16	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:48797184C>A	uc002isr.2	+	1	208	c.91C>A	c.(91-93)CAC>AAC	p.H31N	LUC7L3_uc002isp.1_5'UTR|LUC7L3_uc010wmw.1_5'UTR|LUC7L3_uc002isq.2_Missense_Mutation_p.H31N|LUC7L3_uc002iss.2_Missense_Mutation_p.H31N	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	31					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						GCGGTGGGACCACGAGAGCGT	0.697													A	48797184	C	A	48797184	3	1	273	1	0	0	0	0	1	0	0	0	9084	594	21	5	93	5	LUC7L3	17	48797184	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	246059	48797184	32398026	1559	138856											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917398	48917398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagttggaggatcGggagaatgtggtcatgcggc	19	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:48917398G>A	uc002isv.3	+	2	1443	c.749G>A	c.(748-750)CGG>CAG	p.R250Q	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R157Q	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	250	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTGGAGGATCGGGAGAATGTG	0.607													A	48917398	G	A	48917398	3	1	273	1	0	0	0	0	1	0	0	0	17356	1116	39	1	755	1	WFIKKN2	17	48917398	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	120214	48917398	32277812	1560	138857											
TMEM100	55273	broad.mit.edu	37	chr17	53798136	53798136	+	Frame_Shift_Del	DEL	A	A	-													acaaggcactggaggctagtAaaaaaagtccagatgacaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:53798135_53798135TA>T	uc002iuj.4	-	1	608	c.297_297TA>A	c.(295-297)ttafs	p.L99fs	TMEM100_uc002iuk.4_Frame_Shift_Del_p.L99fs|TMEM100_uc021uai.1_Frame_Shift_Del_p.L99fs	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	99						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TGGAGGCTAGTAAAAAAAGTC	0.502													-	53798136	A	-	53798136	7	5	273	1	0	1	0	1	0	0	0	0	16012	372	13	0	112	0	TMEM100	17	53798136	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	4880738	53798136	27397074	1561	138858											
PCTP	58488	broad.mit.edu	37	chr17	53851118	53851118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggcgagacctggacAtggaagggaggaagatccat	17	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:53851118A>G	uc002iul.3	+	4	482	c.373A>G	c.(373-375)ATG>GTG	p.M125V	PCTP_uc002ium.3_Missense_Mutation_p.M53V|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	125	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)			AGACCTGGACATGGAAGGGAG	0.562													G	53851118	A	G	53851118	3	3	273	1	0	0	0	0	1	0	0	0	11607	217	8	3	387	3	PCTP	17	53851118	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	52982	53851118	27344092	1562	138859											
TRIM25	7706	broad.mit.edu	37	chr17	54969106	54969106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaccagcagaaaatacCcagaaagccgggtacaaagc	11	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:54969106C>T	uc002iut.2	-	9	1908	c.1848G>A	c.(1846-1848)TGG>TGA	p.W616*	TRIM25_uc010dcj.2_Nonsense_Mutation_p.W408*	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	616	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					CAGAAAATACCCAGAAAGCCG	0.537													T	54969106	C	T	54969106	4	4	273	1	0	0	0	0	0	1	0	0	16496	624	22	4	48	4	TRIM25	17	54969106	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1117988	54969106	26226104	1563	138860											
AKAP1	8165	broad.mit.edu	37	chr17	55195773	55195773	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaccggaagcagatgcCgccatgagcgagatgacggg	14	10	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:55195773C>A	uc002iux.2	+	9	2763	c.2532C>A	c.(2530-2532)GCC>GCA	p.A844A	AKAP1_uc010wnl.1_Silent_p.A844A|AKAP1_uc010dcm.2_Silent_p.A844A	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	844					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					AAGCAGATGCCGCCATGAGCG	0.557													A	55195773	C	A	55195773	2	1	273	1	0	0	0	0	0	0	0	1	445	639	23	5		5	AKAP1	17	55195773	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	226667	55195773	25999437	1564	138861											
EPX	8288	broad.mit.edu	37	chr17	56272434	56272434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttcattgaccatgaccTggacttctccccggagtccc	8	16	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:56272434T>C	uc002ivq.2	+	6	790	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	235					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						GACCATGACCTGGACTTCTCC	0.612													C	56272434	T	C	56272434	3	2	273	1	0	0	0	0	1	0	0	0	5200	1580	55	3	726	3	EPX	17	56272434	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1076661	56272434	24922776	1565	138862											
BZRAP1	9256	broad.mit.edu	37	chr17	56389308	56389308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctccagcctctcccaGcctggttcccagggcccttg	10	19	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:56389308G>A	uc002ivx.3	-	17	3745	c.2874C>T	c.(2872-2874)GGC>GGT	p.G958G	BZRAP1_uc010dcs.2_Silent_p.G898G|BZRAP1_uc010wnt.1_Silent_p.G958G	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	958						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCTCTCCCAGCCTGGTTCCC	0.652													A	56389308	G	A	56389308	2	1	273	1	0	0	0	0	0	0	0	1	1577	958	34	2		2	BZRAP1	17	56389308	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	116874	56389308	24805902	1566	138863											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	273	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	45853	56435161	24760049	1567	138864											
TRIM37	4591	broad.mit.edu	37	chr17	57109385	57109385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtctagtaaactactggtaGcagcggagcataaatgtgtt	11	6	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:57109385G>C	uc002iwy.3	-	18	2264	c.1820C>G	c.(1819-1821)GCT>GGT	p.A607G	TRIM37_uc002iwz.3_Missense_Mutation_p.A607G|TRIM37_uc002ixa.3_Missense_Mutation_p.A485G|TRIM37_uc010woc.1_Missense_Mutation_p.A573G	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	607						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTACTGGTAGCAGCGGAGCA	0.393									Mulibrey_Nanism				C	57109385	G	C	57109385	3	2	273	1	0	0	0	0	1	0	0	0	16508	971	34	5	1110	5	TRIM37	17	57109385	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	674224	57109385	24085825	1568	138865											
CA4	762	broad.mit.edu	37	chr17	58234015	58234017	+	In_Frame_Del	DEL	CTT	CTT	-													gtggacaaaaaactgggacgCttcttcttctctggctacga					rs121434552		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:58234014_58234016GCTT>G	uc002iym.4	+	2	300_302	c.206_208GCTT>G	c.(205-210)cgcttc>cGtc	p.F72del	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	72					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|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)	AAACTGGGACGCTTCTTCTTCTC	0.571													-	58234017	CTT	-	58234015	7	5	273	1	0	1	0	1	0	0	0	0	2518	784	28	0	217	0	CA4	17	58234015	In_Frame_Del	DEL	CTT	TCGA-HU-A4GT-01A-21D-A25D-08	1124630	58234015	22961195	1569	138866											
USP32	84669	broad.mit.edu	37	chr17	58270288	58270288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgatagcccatactgtcGtcactgaaacagaagagaac	8	9	1	4	rs139004365		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:58270288G>A	uc002iyo.1	-	28	3724	c.3438C>T	c.(3436-3438)GAC>GAT	p.D1146D	USP32_uc002iyn.1_Silent_p.D816D	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1146					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCATACTGTCGTCACTGAAAC	0.448													A	58270288	G	A	58270288	2	1	273	1	0	0	0	0	0	0	0	1	17060	1136	40	1		1	USP32	17	58270288	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	36273	58270288	22924922	1570	138867											
TANC2	26115	broad.mit.edu	37	chr17	61497839	61497839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagaactcacattacaGgcctagcccaccacacactt	4	16	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61497839G>T	uc002jal.3	+	25	4519	c.4496G>T	c.(4495-4497)AGG>ATG	p.R1499M	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.R610M	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1499							binding			ovary(2)	2						TCACATTACAGGCCTAGCCCA	0.557													T	61497839	G	T	61497839	3	4	273	1	0	0	0	0	1	0	0	0	15542	1000	35	5	4594	5	TANC2	17	61497839	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3227551	61497839	19697371	1571	138868											
ACE	1636	broad.mit.edu	37	chr17	61559016	61559016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccgagttctgggaaggGtcgatgctggagaagccggc	16	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61559016G>A	uc002jau.1	+	7	1057	c.1035G>A	c.(1033-1035)GGG>GGA	p.G345G	ACE_uc010wpi.1_Silent_p.G345G|ACE_uc010ddu.1_Silent_p.G162G	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	345	Extracellular (Potential).|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			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					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)	TCTGGGAAGGGTCGATGCTGG	0.622													A	61559016	G	A	61559016	2	1	273	1	0	0	0	0	0	0	0	1	136	1248	44	4		4	ACE	17	61559016	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	61177	61559016	19636194	1572	138869											
TACO1	51204	broad.mit.edu	37	chr17	61681964	61681964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcgcagcaaacatatGcccaagtcaacgattgagac	10	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61681964G>A	uc002jbd.2	+	2	551	c.351G>A	c.(349-351)ATG>ATA	p.M117I		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially	117					regulation of translation	mitochondrion					0						GCAAACATATGCCCAAGTCAA	0.458													A	61681964	G	A	61681964	3	1	273	1	0	0	0	0	1	0	0	0	15501	1319	46	2	357	2	TACO1	17	61681964	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	122948	61681964	19513246	1573	138870											
DDX42	11325	broad.mit.edu	37	chr17	61895733	61895733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccagagccgcctaaacGcaagaaaagtcgatgggaca	11	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61895733G>A	uc002jbu.2	+	19	3049	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H	DDX42_uc002jbv.2_Missense_Mutation_p.R931H|DDX42_uc002jbx.2_Missense_Mutation_p.R667H|DDX42_uc002jby.2_Missense_Mutation_p.R477H|DDX42_uc010wps.1_Missense_Mutation_p.R299H	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	931					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CCGCCTAAACGCAAGAAAAGT	0.478													A	61895733	G	A	61895733	3	1	273	1	0	0	0	0	1	0	0	0	4362	1087	38	1	2858	1	DDX42	17	61895733	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	213769	61895733	19299477	1574	138871											
SCN4A	6329	broad.mit.edu	37	chr17	62022372	62022372	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgaccccgactcacctcccGggagtccacggctgcataca	10	18	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:62022372G>T	uc002jds.1	-	20	3846	c.3769C>A	c.(3769-3771)CGG>AGG	p.R1257R		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1257	III.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CTCACCTCCCGGGAGTCCACG	0.617													T	62022372	G	T	62022372	2	4	273	1	0	0	0	0	0	0	0	1	13920	1115	39	5		5	SCN4A	17	62022372	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	126639	62022372	19172838	1575	138872											
PRKCA	5578	broad.mit.edu	37	chr17	64731753	64731753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaacccccgttcttgacGcagctgcactcctgcttcca	7	17	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:64731753G>A	uc002jfp.1	+	10	1247	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	PRKCA_uc002jfo.1_Silent_p.T272T	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	401	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			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGTTCTTGACGCAGCTGCACT	0.542													A	64731753	G	A	64731753	2	1	273	1	0	0	0	0	0	0	0	1	12507	1074	38	1		1	PRKCA	17	64731753	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2709381	64731753	16463457	1576	138873											
CACNG1	786	broad.mit.edu	37	chr17	65040806	65040806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaaatgctgaaggtccgCgtgaccctcttctgcatcct	8	14	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65040806C>T	uc002jfu.2	+	1	101	c.30C>T	c.(28-30)CGC>CGT	p.R10R		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	10					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	TGAAGGTCCGCGTGACCCTCT	0.652													T	65040806	C	T	65040806	2	4	273	1	0	0	0	0	0	0	0	1	2556	755	27	1		1	CACNG1	17	65040806	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	309053	65040806	16154404	1577	138874											
HELZ	9931	broad.mit.edu	37	chr17	65105424	65105425	+	Frame_Shift_Ins	INS	-	-	A													cgatgagcaactgcactattINSaaaaaaagcattgttgggtc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65105424_65105425insA	uc010wqk.1	-	29	4486_4487	c.4299_4300insT	c.(4297-4302)TTTAATfs	p.F1433fs	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Frame_Shift_Ins_p.F1432fs|HELZ_uc010der.2_5'UTR	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACTGCACTATTAAAAAAAGCAT	0.54													A	65105425	-	A	65105424	7	5	273	1	0	1	1	0	0	0	0	0	7049	1754	61	0	1551	0	HELZ	17	65105424	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	64618	65105424	16089786	1578	138875	741	2									
HELZ	9931	broad.mit.edu	37	chr17	65105425	65105426	+	Frame_Shift_Ins	INS	-	-	A													gatgagcaactgcactattaINSaaaaaagcattgttgggtcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65105424_65105425T>TA	uc010wqk.2	-	28	4486_4487	c.4299_4300A>TA	c.(4297-4302)tttaatfs	p.F1433fs	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Frame_Shift_Ins_p.F1432fs|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											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)					ACTGCACTATTAAAAAAAGCAT	0.54													A	65105426	-	A	65105425	7	5	273	1	0	1	1	0	0	0	0	0	7049	359	13	0	1552	0	HELZ	17	65105425	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	65105425	16089785	1579	138876	741	2									
HELZ	9931	broad.mit.edu	37	chr17	65190146	65190146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgggcggaaatgccaaCcattacaagaccctagggag	14	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65190146C>T	uc010wqk.1	-	9	681	c.494G>A	c.(493-495)GGT>GAT	p.G165D	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G165D	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAAATGCCAACCATTACAAGA	0.373													T	65190146	C	T	65190146	3	4	273	1	0	0	0	0	1	0	0	0	7049	507	18	4	5434	4	HELZ	17	65190146	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	84721	65190146	16005064	1580	138877											
ABCA8	10351	broad.mit.edu	37	chr17	66871434	66871434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgggggaaaagcctcAggatctctgcatggaggggc	16	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:66871434A>G	uc002jhp.2	-	35	4657	c.4478T>C	c.(4477-4479)CTG>CCG	p.L1493P	ABCA8_uc002jhq.2_Missense_Mutation_p.L1533P|ABCA8_uc010wqq.1_Missense_Mutation_p.L1528P	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1493						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					GAAAAGCCTCAGGATCTCTGC	0.478													G	66871434	A	G	66871434	3	3	273	1	0	0	0	0	1	0	0	0	38	188	7	3	283	3	ABCA8	17	66871434	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1681288	66871434	14323776	1581	138878											
ABCA9	10350	broad.mit.edu	37	chr17	67045534	67045534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaactatctacacgtcccAgatccattgaagacatttga	5	10	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:67045534A>G	uc002jhu.2	-	3	337	c.194T>C	c.(193-195)CTG>CCG	p.L65P	ABCA9_uc010dez.2_Missense_Mutation_p.L65P|ABCA9_uc002jhv.2_Missense_Mutation_p.L65P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	65					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TACACGTCCCAGATCCATTGA	0.368													G	67045534	A	G	67045534	3	3	273	1	0	0	0	0	1	0	0	0	39	188	7	3	4828	3	ABCA9	17	67045534	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	174100	67045534	14149676	1582	138879											
ABCA5	23461	broad.mit.edu	37	chr17	67256528	67256528	+	Frame_Shift_Del	DEL	T	T	-													atggattataggtgtccacaTtttttcgtacattcttccaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:67256528delT	uc002jif.2	-	26	4808	c.3590delA	c.(3589-3591)AATfs	p.N1197fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.N163fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.N420fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.N114fs|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Frame_Shift_Del_p.N1197fs	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1197					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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GGTGTCCACATTTTTTCGTAC	0.294													-	67256528	T	-	67256528	7	5	273	1	0	1	0	1	0	0	0	0	35	1493	52	0	1390	0	ABCA5	17	67256528	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	210994	67256528	13938682	1583	138880											
DNAI2	64446	broad.mit.edu	37	chr17	72306204	72306204	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggtgcaggacaatgggtgtCtcatcgcctgcggctcccag	15	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:72306204C>G	uc002jkf.2	+	11	1495	c.1396C>G	c.(1396-1398)CTC>GTC	p.L466V	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	466					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CAATGGGTGTCTCATCGCCTG	0.607									Kartagener_syndrome				G	72306204	C	G	72306204	3	3	273	1	0	0	0	0	1	0	0	0	4610	913	32	5	1434	5	DNAI2	17	72306204	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5049676	72306204	8889006	1584	138881											
FDXR	2232	broad.mit.edu	37	chr17	72862943	72862943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcgccacaccaaagcgcAccaggccaaagggcacaggc	12	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:72862943A>G	uc002jly.2	-	3	320	c.233T>C	c.(232-234)GTG>GCG	p.V78A	FDXR_uc010wri.1_Missense_Mutation_p.V26A|FDXR_uc010wrj.1_Missense_Mutation_p.V76A|FDXR_uc002jlw.2_5'UTR|FDXR_uc002jlx.2_Missense_Mutation_p.V78A|FDXR_uc002jmc.2_Missense_Mutation_p.V79A|FDXR_uc010wrk.1_Missense_Mutation_p.V109A|FDXR_uc010wrl.1_Missense_Mutation_p.V121A|FDXR_uc002jma.2_Missense_Mutation_p.V79A|FDXR_uc010wrm.1_Missense_Mutation_p.V79A|FDXR_uc002jlz.2_Missense_Mutation_p.V78A|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	78					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					ACCAAAGCGCACCAGGCCAAA	0.637													G	72862943	A	G	72862943	3	3	273	1	0	0	0	0	1	0	0	0	5807	159	6	3	1300	3	FDXR	17	72862943	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	556739	72862943	8332267	1585	138882											
OTOP2	92736	broad.mit.edu	37	chr17	72926394	72926394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgcagacaacccggtcGgaggagactcctgcctctgc	12	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:72926394G>A	uc010wrp.1	+	7	753	c.664G>A	c.(664-666)GGA>AGA	p.G222R		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	222						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					CAACCCGGTCGGAGGAGACTC	0.572													A	72926394	G	A	72926394	3	1	273	1	0	0	0	0	1	0	0	0	11306	1117	39	1	682	1	OTOP2	17	72926394	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	63451	72926394	8268816	1586	138883											
KIAA0195	9772	broad.mit.edu	37	chr17	73487138	73487138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcccaccaggaaatgctGcgctgcatttggggccactt	10	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73487138G>A	uc002jnz.3	+	12	1412	c.1137G>A	c.(1135-1137)CTG>CTA	p.L379L	KIAA0195_uc010wsa.1_Silent_p.L389L|KIAA0195_uc010wsb.1_Silent_p.L31L	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	379					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			AGGAAATGCTGCGCTGCATTT	0.612													A	73487138	G	A	73487138	2	1	273	1	0	0	0	0	0	0	0	1	8160	1306	46	2		2	KIAA0195	17	73487138	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	560744	73487138	7708072	1587	138884											
KIAA0195	9772	broad.mit.edu	37	chr17	73489851	73489851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcgcctacaagcccaTgaactgcgccctgtcctctc	7	18	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73489851T>C	uc002jnz.3	+	18	2536	c.2261T>C	c.(2260-2262)ATG>ACG	p.M754T	KIAA0195_uc010wsa.1_Missense_Mutation_p.M764T|KIAA0195_uc010wsb.1_Missense_Mutation_p.M394T|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	754					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			TACAAGCCCATGAACTGCGCC	0.597													C	73489851	T	C	73489851	3	2	273	1	0	0	0	0	1	0	0	0	8160	1464	51	3	2327	3	KIAA0195	17	73489851	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2713	73489851	7705359	1588	138885											
KIAA0195	9772	broad.mit.edu	37	chr17	73495137	73495137	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgtggtggtgaccaaTgagatcgtgaagctacatga	13	7	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73495137T>C	uc002jnz.3	+	31	4247	c.3972T>C	c.(3970-3972)AAT>AAC	p.N1324N	KIAA0195_uc010wsa.1_Silent_p.N1334N|KIAA0195_uc010wsb.1_Silent_p.N964N|KIAA0195_uc002job.3_Silent_p.N362N	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	1324	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			TGGTGACCAATGAGATCGTGA	0.602													C	73495137	T	C	73495137	2	2	273	1	0	0	0	0	0	0	0	1	8160	1461	51	3		3	KIAA0195	17	73495137	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	5286	73495137	7700073	1589	138886											
LLGL2	3993	broad.mit.edu	37	chr17	73567789	73567789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggctggcaccaatgggGgcaccatctatgccttctcc	12	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73567789G>T	uc002joh.2	+	18	2372	c.2218G>T	c.(2218-2220)GGC>TGC	p.G740C	LLGL2_uc002joi.2_Missense_Mutation_p.G740C|LLGL2_uc010dgg.1_Missense_Mutation_p.G740C|LLGL2_uc002joj.2_Missense_Mutation_p.G729C|LLGL2_uc010wsd.1_Missense_Mutation_p.G367C	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	740	WD 11.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	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)			CACCAATGGGGGCACCATCTA	0.662													T	73567789	G	T	73567789	3	4	273	1	0	0	0	0	1	0	0	0	8834	1232	43	5	2319	5	LLGL2	17	73567789	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	72652	73567789	7627421	1590	138887											
ITGB4	3691	broad.mit.edu	37	chr17	73750675	73750675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcacctggtgaatggccGgatggactttgccttcccgg	14	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73750675G>A	uc002jpg.2	+	34	4524	c.4337G>A	c.(4336-4338)CGG>CAG	p.R1446Q	ITGB4_uc002jph.2_Missense_Mutation_p.R1376Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R1376Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R1376Q|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1446	Cytoplasmic (Potential).				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			lung(4)	4	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)			GTGAATGGCCGGATGGACTTT	0.677													A	73750675	G	A	73750675	3	1	273	1	0	0	0	0	1	0	0	0	7897	1116	39	1	4467	1	ITGB4	17	73750675	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	182886	73750675	7444535	1591	138888											
UNK	85451	broad.mit.edu	37	chr17	73780920	73780922	+	In_Frame_Del	DEL	AAT	AAT	-													ggcgcggaccgcgcagactgAataataaaaggggagcggcg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73780919_73780921GAAT>G	uc002jpm.3	+	1	186_188	c.186_188GAAT>G	c.(184-189)ctgaat>ctGt	p.N64del	UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	0							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)			CGCGCAGACTGAATAATAAAAGG	0.69													-	73780922	AAT	-	73780920	7	5	273	1	0	1	0	1	0	0	0	0	16997	246	9	0	193	0	UNK	17	73780920	In_Frame_Del	DEL	AAT	TCGA-HU-A4GT-01A-21D-A25D-08	30245	73780920	7414290	1592	138889											
UNK	85451	broad.mit.edu	37	chr17	73805954	73805954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaaccagcggcgccgccGgtccatccgccgtcgggacg	15	17	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73805954G>A	uc002jpm.2	+	3	446	c.446G>A	c.(445-447)CGG>CAG	p.R149Q		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	73	Poly-Arg.						nucleic acid binding|zinc ion binding				0			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)			CGGCGCCGCCGGTCCATCCGC	0.622													A	73805954	G	A	73805954	3	1	273	1	0	0	0	0	1	0	0	0	16997	1116	39	1	456	1	UNK	17	73805954	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	25034	73805954	7389256	1593	138890											
UNK	85451	broad.mit.edu	37	chr17	73813510	73813510	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggcatcgtcttccctgGggagtctggcctggcccctg	16	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73813510G>T	uc002jpm.2	+	10	1436	c.1436G>T	c.(1435-1437)GGG>GTG	p.G479V		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	403							nucleic acid binding|zinc ion binding				0			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)			GTCTTCCCTGGGGAGTCTGGC	0.602													T	73813510	G	T	73813510	3	4	273	1	0	0	0	0	1	0	0	0	16997	1232	43	5	1474	5	UNK	17	73813510	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7556	73813510	7381700	1594	138891											
RNF157	114804	broad.mit.edu	37	chr17	74155544	74155544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcattcctgagaggtgGccatctccaagcacgtgaag	14	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74155544G>A	uc002jqz.2	-	12	1245	c.1176C>T	c.(1174-1176)GGC>GGT	p.G392G	RNF157_uc002jra.2_Silent_p.G392G	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	392							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGAGAGGTGGCCATCTCCAA	0.592													A	74155544	G	A	74155544	2	1	273	1	0	0	0	0	0	0	0	1	13454	1190	42	2		2	RNF157	17	74155544	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	342034	74155544	7039666	1595	138892											
QRICH2	84074	broad.mit.edu	37	chr17	74287434	74287434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatccaaaccttcctggCcatgctgatcagcacttaga	8	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74287434C>T	uc002jrd.1	-	4	3056	c.2876G>A	c.(2875-2877)GGC>GAC	p.G959D	QRICH2_uc010wsz.1_Missense_Mutation_p.G885D|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	959							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						ACCTTCCTGGCCATGCTGATC	0.512													T	74287434	C	T	74287434	3	4	273	1	0	0	0	0	1	0	0	0	12880	739	26	2	2179	2	QRICH2	17	74287434	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	131890	74287434	6907776	1596	138893											
SPHK1	8877	broad.mit.edu	37	chr17	74383476	74383476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcccctacttggtatatGtgcccgtggtcgccttccgc	10	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74383476G>A	uc002jrf.1	+	8	1773	c.964G>A	c.(964-966)GTG>ATG	p.V322M	SPHK1_uc002jrg.1_Missense_Mutation_p.V271M|SPHK1_uc002jrh.2_Missense_Mutation_p.V336M|SPHK1_uc002jrj.2_Missense_Mutation_p.V408M|SPHK1_uc002jri.2_Missense_Mutation_p.V322M|SPHK1_uc002jrk.3_Missense_Mutation_p.V322M|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	322					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						CTTGGTATATGTGCCCGTGGT	0.597													A	74383476	G	A	74383476	3	1	273	1	0	0	0	0	1	0	0	0	15045	1377	48	4	1286	4	SPHK1	17	74383476	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	96042	74383476	6811734	1597	138894											
AANAT	15	broad.mit.edu	37	chr17	74464970	74464970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggaggacgctgtcagcGcctttgagatcgagcgtgaa	14	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74464970G>A	uc002jro.2	+	2	376	c.142G>A	c.(142-144)GCC>ACC	p.A48T	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	48	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						CGCTGTCAGCGCCTTTGAGAT	0.637													A	74464970	G	A	74464970	3	1	273	1	0	0	0	0	1	0	0	0	18	1087	38	1	283	1	AANAT	17	74464970	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	81494	74464970	6730240	1598	138895											
ENGASE	64772	broad.mit.edu	37	chr17	77076399	77076400	+	Frame_Shift_Ins	INS	-	-	T													gctggtccagatcactcagtINStttttcgttttgatggctgg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:77076398_77076399G>GT	uc002jwv.3	+	4	683_684	c.675_676G>GT	c.(673-678)cagtttfs	p.Q225fs	ENGASE_uc002jwu.1_Frame_Shift_Ins_p.Q225fs|ENGASE_uc010wtz.1_Frame_Shift_Ins_p.Q39fs|ENGASE_uc002jww.3_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	225						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGATCACTCAGTTTTTTCGTTT	0.604													T	77076400	-	T	77076399	7	5	273	1	0	1	1	0	0	0	0	0	5118	1725	60	0	694	0	ENGASE	17	77076399	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2611429	77076399	4118811	1599	138896											
CBX4	8535	broad.mit.edu	37	chr17	77808751	77808752	+	Frame_Shift_Ins	INS	-	-	G													gggccggcatcattccgttgINSggggggcccttctcggagcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:77808750_77808751T>TG	uc002jxe.3	-	4	853_854	c.690_691A>CA	c.(688-693)cccaacfs	p.P230fs		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	230	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATCATTCCGTTGGGGGGGCCCT	0.639											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	77808752	-	G	77808751	7	5	273	1	0	1	1	0	0	0	0	0	2720	1335	47	0	996	0	CBX4	17	77808751	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	732352	77808751	3386459	1600	138897											
C17orf56	146705	broad.mit.edu	37	chr17	79202811	79202811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggacgatgtttggggggCgcggggagcatcaggacagg	21	7	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:79202811C>T	uc002jzu.1	-	12	1517	c.1495G>A	c.(1495-1497)GCC>ACC	p.A499T	C17orf56_uc002jzr.1_Missense_Mutation_p.A169T|C17orf56_uc002jzs.1_Missense_Mutation_p.A415T|C17orf56_uc002jzt.1_Missense_Mutation_p.A415T|C17orf56_uc002jzv.1_Missense_Mutation_p.A347T|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	499						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTTGGGGGGCGCGGGGAGCA	0.672													T	79202811	C	T	79202811	3	4	273	1	0	0	0	0	1	0	0	0	1864	768	27	1	86	1	C17orf56	17	79202811	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1394060	79202811	1992399	1601	138898											
TMEM105	284186	broad.mit.edu	37	chr17	79287451	79287451	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaggaagagatggcagTcacctccctctaatccctgc	11	12	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:79287451T>C	uc002kad.1	-	3	940	c.390A>G	c.(388-390)TGA>TGG	p.*130W		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	transmembrane protein 105	130						integral to membrane				ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GAGATGGCAGTCACCTCCCTC	0.592													C	79287451	T	C	79287451	4	2	273	1	0	0	0	0	0	0	0	0	16016	1680	58	3	3	3	TMEM105	17	79287451	Nonstop_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	84640	79287451	1907759	1602	138899											
ASPSCR1	79058	broad.mit.edu	37	chr17	79952719	79952719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcctgcagcaccccggcGgggccaccccagtctgcgtg	14	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:79952719G>A	uc002kcx.2	+	5	494	c.397G>A	c.(397-399)GGG>AGG	p.G133R	ASPSCR1_uc002kcw.1_Missense_Mutation_p.G133R|ASPSCR1_uc002kcy.2_Missense_Mutation_p.G133R|ASPSCR1_uc002kcz.2_Missense_Mutation_p.G133R|ASPSCR1_uc002kda.2_Missense_Mutation_p.G56R|ASPSCR1_uc002kdb.1_Missense_Mutation_p.G56R	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	133							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	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)			GCACCCCGGCGGGGCCACCCC	0.632			T	TFE3	alveolar soft part sarcoma								A	79952719	G	A	79952719	3	1	273	1	0	0	0	0	1	0	0	0	1059	1116	39	1	415	1	ASPSCR1	17	79952719	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	665268	79952719	1242491	1603	138900											
FASN	2194	broad.mit.edu	37	chr17	80046753	80046753	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccacgcttcaggacagcCtgggggcggcagggcaggtg	19	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80046753C>A	uc002kdu.2	-	15	2422	c.2305_splice	c.e15-1	p.A769_splice	FASN_uc002kdw.1_Translation_Start_Site	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase						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(1)	1	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)	TCAGGACAGCCTGGGGGCGGC	0.672													A	80046753	C	A	80046753	5	1	273	1	0	0	0	0	0	0	1	0	5683	695	24	5	5347	5	FASN	17	80046753	Splice_Site	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	94034	80046753	1148457	1604	138901											
CD7	924	broad.mit.edu	37	chr17	80274823	80274823	+	Frame_Shift_Del	DEL	G	G	-													atgttgacggaggctcccacGgggacagtcgtgcagtgggg					rs137963164	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80274822_80274822CG>C	uc002kel.1	-	1	227	c.118_118CG>G	c.(118-120)gtgfs	p.V40fs	CD7_uc010din.3_Frame_Shift_Del_p.V40fs|CD7_uc010wvk.1_Frame_Shift_Del_p.V40fs	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	40	Ig-like.				T cell activation|immune response|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)			GAGGCTCCCACGGGGACAGTC	0.627													-	80274823	G	-	80274823	7	5	273	1	0	1	0	1	0	0	0	0	3032	1103	39	0	617	0	CD7	17	80274823	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	228070	80274823	920387	1605	138902											
WDR45L	56270	broad.mit.edu	37	chr17	80579639	80579639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcccggaaaggccaggAgggagttgttactattggga	17	7	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80579639A>G	uc002kfq.2	-	6	659	c.464T>C	c.(463-465)CTC>CCC	p.L155P	WDR45L_uc002kfr.2_RNA	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	155					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			AAAGGCCAGGAGGGAGTTGTT	0.572													G	80579639	A	G	80579639	3	3	273	1	0	0	0	0	1	0	0	0	17295	304	11	3	590	3	WDR45L	17	80579639	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	304816	80579639	615571	1606	138903											
ZNF750	79755	broad.mit.edu	37	chr17	80788598	80788598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggggctgccttggtacGtgggttcgtgggtggctgcc	19	10	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80788598G>A	uc002kga.2	-	3	1903	c.1592C>T	c.(1591-1593)ACG>ATG	p.T531M	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	531						intracellular	zinc ion binding			central_nervous_system(1)	1	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)			GCCTTGGTACGTGGGTTCGTG	0.627													A	80788598	G	A	80788598	3	1	273	1	0	0	0	0	1	0	0	0	18129	1145	40	1	583	1	ZNF750	17	80788598	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	208959	80788598	406612	1607	138904											
COLEC12	81035	broad.mit.edu	37	chr18	348068	348068	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtcacagattacctaAttttttcaggtcactttcca	5	10	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:348068A>T	uc002kkm.2	-	4	492	c.277T>A	c.(277-279)TTA>ATA	p.L93I		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	93	Potential.|Extracellular (Potential).				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			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGATTACCTAATTTTTTCAGG	0.418													T	348068	A	T	348068	3	4	273	1	0	0	0	0	1	0	0	0	3712	98	4	5	1979	5	COLEC12	18	348068	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08		348068	77729180	1608	138905											
MYOM1	8736	broad.mit.edu	37	chr18	3116516	3116517	+	Splice_Site	DEL	GA	GA	-													tgagactgtgcggtggtcctGagagagagagaagccaatga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:3116515_3116516TGA>T	uc002klp.3	-	21	3453	c.3119_splice	c.e21-1	p.G1040_splice	MYOM1_uc002klq.3_Splice_Site_p.G944_splice	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1040	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						GCGGTGGTCCTGAGAGAGAGAG	0.495													-	3116517	GA	-	3116516	8	5	273	1	0	1	0	1	0	0	1	0	10091	1305	45	0		0	MYOM1	18	3116516	Splice_Site	DEL	GA	TCGA-HU-A4GT-01A-21D-A25D-08	2768448	3116516	74960732	1609	138906											
ZFP161	7541	broad.mit.edu	37	chr18	5291879	5291879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaagaatctgacccgatgAcatcattaagttaacatctt	5	10	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:5291879A>G	uc002kmq.2	-	4	489	c.328T>C	c.(328-330)TCA>CCA	p.S110P	ZFP161_uc002kmr.2_Missense_Mutation_p.S110P|ZFP161_uc010dkp.2_Missense_Mutation_p.S110P	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	110					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGACCCGATGACATCATTAAG	0.373													G	5291879	A	G	5291879	3	3	273	1	0	0	0	0	1	0	0	0	17637	275	10	3	1025	3	ZFP161	18	5291879	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2175363	5291879	72785369	1610	138907											
ANKRD12	23253	broad.mit.edu	37	chr18	9221975	9221976	+	In_Frame_Ins	INS	-	-	TGA													aaagagaggtgcctttatctINSgatgatgatgaaagttacac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:9221974_9221975C>CTGA	uc002knv.3	+	7	1184_1185	c.920_921C>CTGA	c.(919-921)tct>tCTGA	p.S307S	ANKRD12_uc010wzn.2_In_Frame_Ins_p.S307S|ANKRD12_uc002knw.3_In_Frame_Ins_p.S284S|ANKRD12_uc002knx.3_In_Frame_Ins_p.S284S|ANKRD12_uc010dkx.1_5'UTR	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	307						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						GTGCCTTTATCTGATGATGATG	0.371													TGA	9221976	-	TGA	9221975	7	5	273	1	0	1	1	0	0	0	0	0	640	1567	55	0	947	0	ANKRD12	18	9221975	In_Frame_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3930096	9221975	68855273	1611	138908											
TXNDC2	84203	broad.mit.edu	37	chr18	9886919	9886919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccagcccaaagagagtaAcatccccaagtcctcagcaa	6	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:9886919A>G	uc002koi.3	+	2	892	c.443A>G	c.(442-444)AAC>AGC	p.N148S	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.N81S	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	148	3.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				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			ovary(1)|pancreas(1)	2						AAAGAGAGTAACATCCCCAAG	0.557													G	9886919	A	G	9886919	3	3	273	1	0	0	0	0	1	0	0	0	16794	43	2	3	449	3	TXNDC2	18	9886919	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	664944	9886919	68190329	1612	138909											
CEP192	55125	broad.mit.edu	37	chr18	13057734	13057734	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttaatggtgaaaaggTagctttctatgtctttctca	9	5	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:13057734T>C	uc010xac.1	+	20	4337	c.4257_splice	c.e20+2	p.K1419_splice	CEP192_uc010dlf.1_Splice_Site|CEP192_uc010xad.1_Splice_Site_p.K944_splice|CEP192_uc002kru.2_Splice_Site|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Splice_Site_p.K1160_splice	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa											ovary(4)|pancreas(1)	5						GGTGAAAAGGTAGCTTTCTAT	0.468													C	13057734	T	C	13057734	5	2	273	1	0	0	0	0	0	0	1	0	3251	1652	57	3	4333	3	CEP192	18	13057734	Splice_Site	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3170815	13057734	65019514	1613	138910											
LAMA3	3909	broad.mit.edu	37	chr18	21422480	21422480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggatggcgggtggccacGggcaggtgagctgcagtgag	22	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:21422480G>A	uc002kuq.2	+	28	3544	c.3458G>A	c.(3457-3459)CGG>CAG	p.R1153Q	LAMA3_uc002kur.2_Missense_Mutation_p.R1153Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1153	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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	GGGTGGCCACGGGCAGGTGAG	0.607													A	21422480	G	A	21422480	3	1	273	1	0	0	0	0	1	0	0	0	8607	1116	39	1	3568	1	LAMA3	18	21422480	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	8364746	21422480	56654768	1614	138911											
CDH2	1000	broad.mit.edu	37	chr18	25532313	25532313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggtcattgtcagccGctttaaggccctgcaatttg	12	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:25532313G>A	uc002kwg.2	-	16	2984	c.2525C>T	c.(2524-2526)GCG>GTG	p.A842V	CDH2_uc010xbn.1_Missense_Mutation_p.A811V	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	842	Cytoplasmic (Potential).				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			ovary(3)|lung(1)	4						ATTGTCAGCCGCTTTAAGGCC	0.458											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	25532313	G	A	25532313	3	1	273	1	0	0	0	0	1	0	0	0	3105	1087	38	1	199	1	CDH2	18	25532313	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	4109833	25532313	52544935	1615	138912											
CDH2	1000	broad.mit.edu	37	chr18	25570159	25570160	+	Frame_Shift_Ins	INS	-	-	T													cttggcgaatgatcttaggaINSttgggggcaaaataagggtt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:25570159_25570160insT	uc002kwg.2	-	10	1958_1959	c.1499_1500insA	c.(1498-1500)AATfs	p.N500fs	CDH2_uc010xbn.1_Frame_Shift_Ins_p.N469fs	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	500	Extracellular (Potential).|Cadherin 4.				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			ovary(3)|lung(1)	4						TGATCTTAGGATTGGGGGCAAA	0.455													T	25570160	-	T	25570159	7	5	273	1	0	1	1	0	0	0	0	0	3105	330	12	0	1248	0	CDH2	18	25570159	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	37846	25570159	52507089	1616	138913	742	2									
CDH2	1000	broad.mit.edu	37	chr18	25570160	25570161	+	Frame_Shift_Ins	INS	-	-	T													ttggcgaatgatcttaggatINStgggggcaaaataagggttt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:25570159_25570160A>AT	uc002kwg.2	-	9	1958_1959	c.1499_1500T>AT	c.(1498-1500)aatfs	p.N500fs	CDH2_uc010xbn.1_Frame_Shift_Ins_p.N469fs	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	500	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGATCTTAGGATTGGGGGCAAA	0.455													T	25570161	-	T	25570160	7	5	273	1	0	1	1	0	0	0	0	0	3105	1493	52	0	1249	0	CDH2	18	25570160	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	25570160	52507088	1617	138914	742	2									
PIK3C3	5289	broad.mit.edu	37	chr18	39617690	39617690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagttgttttttaagaCggaagatggaggcaaatatc	11	5	0	2	rs141329274		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:39617690C>T	uc002lap.2	+	17	1932	c.1874C>T	c.(1873-1875)ACG>ATG	p.T625M	PIK3C3_uc010xcl.1_Missense_Mutation_p.T562M|PIK3C3_uc002laq.2_Missense_Mutation_p.T110M|PIK3C3_uc002lar.1_Missense_Mutation_p.T9M	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	625					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			lung(8)|ovary(1)|breast(1)	10						TTTTTTAAGACGGAAGATGGA	0.328										TSP Lung(28;0.18)			T	39617690	C	T	39617690	3	4	273	1	0	0	0	0	1	0	0	0	11912	536	19	1	1940	1	PIK3C3	18	39617690	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	14047530	39617690	38459558	1618	138915											
PIAS2	9063	broad.mit.edu	37	chr18	44392421	44392421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgagatgatgtcaggaAtgttacttccactgctggtt	10	8	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:44392421A>G	uc002lck.2	-	14	1999	c.1841T>C	c.(1840-1842)ATT>ACT	p.I614T	PIAS2_uc010dnp.2_Missense_Mutation_p.I312T	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	614					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			ovary(2)|breast(1)|skin(1)	4						GATGTCAGGAATGTTACTTCC	0.463													G	44392421	A	G	44392421	3	3	273	1	0	0	0	0	1	0	0	0	11876	101	4	3	28	3	PIAS2	18	44392421	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4774731	44392421	33684827	1619	138916											
MRO	83876	broad.mit.edu	37	chr18	48331584	48331585	+	Frame_Shift_Ins	INS	-	-	C													agaaggaacccaaacctttcINSccctggatcttgcccagaac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:48331583_48331584T>TC	uc010dpa.3	-	3	560_561	c.411_412A>GA	c.(409-414)gggaaafs	p.G137fs	MRO_uc010xdn.2_Frame_Shift_Ins_p.G123fs|MRO_uc002lew.4_Frame_Shift_Ins_p.G123fs|MRO_uc010dpb.3_Frame_Shift_Ins_p.G137fs|MRO_uc010dpc.3_Frame_Shift_Ins_p.G123fs|MRO_uc002lex.4_Frame_Shift_Ins_p.G123fs	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	123						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)		CCCAAACCTTTCCCCTGGATCT	0.426													C	48331585	-	C	48331584	7	5	273	1	0	1	1	0	0	0	0	0	9772	842	30	0	393	0	MRO	18	48331584	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	3939163	48331584	29745664	1620	138917											
POLI	11201	broad.mit.edu	37	chr18	51813729	51813729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaagcactatggtcgTgagagtcgtcagtgccctat	12	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:51813729T>C	uc002lfj.3	+	8	1214	c.1146T>C	c.(1144-1146)CGT>CGC	p.R382R	POLI_uc010xds.1_Silent_p.R303R|POLI_uc002lfk.3_Silent_p.R279R|POLI_uc010dpg.2_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	382	DNA binding.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ACTATGGTCGTGAGAGTCGTC	0.403								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	51813729	T	C	51813729	2	2	273	1	0	0	0	0	0	0	0	1	12203	1683	59	3		3	POLI	18	51813729	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3482145	51813729	26263519	1621	138918											
C18orf54	162681	broad.mit.edu	37	chr18	51888258	51888258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggaccctacacttccAtgggcaaggataactttgtt	8	10	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:51888258A>G	uc002lfn.3	+	3	645	c.529A>G	c.(529-531)ATG>GTG	p.M177V	C18orf54_uc002lfo.3_Missense_Mutation_p.M177V	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	177						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CTACACTTCCATGGGCAAGGA	0.403													G	51888258	A	G	51888258	3	3	273	1	0	0	0	0	1	0	0	0	1904	217	8	3	535	3	C18orf54	18	51888258	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	74529	51888258	26188990	1622	138919											
C18orf54	162681	broad.mit.edu	37	chr18	51904589	51904589	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagacctggttgatgatacGaatggagaacggtcaccgaa	13	7	1	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:51904589G>A	uc002lfn.3	+	8	1208	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	C18orf54_uc002lfo.3_Silent_p.T525T	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	364						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TTGATGATACGAATGGAGAAC	0.363													A	51904589	G	A	51904589	2	1	273	1	0	0	0	0	0	0	0	1	1904	1045	37	1		1	C18orf54	18	51904589	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	16331	51904589	26172659	1623	138920											
WDR7	23335	broad.mit.edu	37	chr18	54603098	54603098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctcgctcattgccaccGccagaccacccgccttcatc	5	22	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:54603098G>A	uc002lgk.1	+	23	4004	c.3793G>A	c.(3793-3795)GCC>ACC	p.A1265T	WDR7_uc002lgl.1_Missense_Mutation_p.A1232T	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1265										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CATTGCCACCGCCAGACCACC	0.527													A	54603098	G	A	54603098	3	1	273	1	0	0	0	0	1	0	0	0	17317	1087	38	1	3879	1	WDR7	18	54603098	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2698509	54603098	23474150	1624	138921											
ATP8B1	5205	broad.mit.edu	37	chr18	55355551	55355551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatatctgcccgttgataCagcactttttaaaggtcatg	7	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:55355551C>T	uc002lgw.2	-	12	1409	c.1409G>A	c.(1408-1410)TGT>TAT	p.C470Y	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	470	Cytoplasmic (Potential).				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(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CCCGTTGATACAGCACTTTTT	0.468									Byler_disease				T	55355551	C	T	55355551	3	4	273	1	0	0	0	0	1	0	0	0	1194	478	17	4	2410	4	ATP8B1	18	55355551	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	752453	55355551	22721697	1625	138922											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	273	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1657734	57013285	21063963	1626	138923											
KIAA1468	57614	broad.mit.edu	37	chr18	59936180	59936180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccttacgtgttatattcAggtaagggaaaaattcttac	8	6	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:59936180A>G	uc002lil.2	+	20	2974	c.2759A>G	c.(2758-2760)CAG>CGG	p.Q920R	KIAA1468_uc002lik.1_Missense_Mutation_p.Q916R|KIAA1468_uc010xel.1_Missense_Mutation_p.Q920R|KIAA1468_uc002lim.2_Missense_Mutation_p.Q564R	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	920							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TGTTATATTCAGGTAAGGGAA	0.343													G	59936180	A	G	59936180	3	3	273	1	0	0	0	0	1	0	0	0	8236	202	7	3	2837	3	KIAA1468	18	59936180	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2922895	59936180	18141068	1627	138924											
KIAA1468	57614	broad.mit.edu	37	chr18	59966038	59966038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaggttattttaagttccAtgataaaagaatgtgaacaa	7	4	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:59966038A>G	uc002lil.2	+	28	3690	c.3475A>G	c.(3475-3477)ATG>GTG	p.M1159V	KIAA1468_uc010xel.1_Missense_Mutation_p.M1159V|KIAA1468_uc002lim.2_Missense_Mutation_p.M837V	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	1159							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TTTAAGTTCCATGATAAAAGA	0.254													G	59966038	A	G	59966038	3	3	273	1	0	0	0	0	1	0	0	0	8236	217	8	3	3585	3	KIAA1468	18	59966038	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	29858	59966038	18111210	1628	138925											
CDH7	1005	broad.mit.edu	37	chr18	63525178	63525178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaatatcacagtccttgcAatggagagccgtaagttgtg	10	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:63525178A>G	uc002ljz.2	+	8	1687	c.1362A>G	c.(1360-1362)GCA>GCG	p.A454A	CDH7_uc002lka.2_Silent_p.A454A|CDH7_uc002lkb.2_Silent_p.A454A	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	454	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CAGTCCTTGCAATGGAGAGCC	0.398													G	63525178	A	G	63525178	2	3	273	1	0	0	0	0	0	0	0	1	3115	117	5	3		3	CDH7	18	63525178	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3559140	63525178	14552070	1629	138926											
CNDP2	55748	broad.mit.edu	37	chr18	72180856	72180856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacgaggccgtggccgccGtcacggaagaggagcacaag	15	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72180856G>A	uc002llm.1	+	8	967	c.805G>A	c.(805-807)GTC>ATC	p.V269I	CNDP2_uc002lln.1_Missense_Mutation_p.V185I|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	269						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CGTGGCCGCCGTCACGGAAGA	0.592													A	72180856	G	A	72180856	3	1	273	1	0	0	0	0	1	0	0	0	3594	1145	40	1	831	1	CNDP2	18	72180856	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	8655678	72180856	5896392	1630	138927											
CNDP1	84735	broad.mit.edu	37	chr18	72229332	72229332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggccctgtcttggctTggatcaatgctgtgagcgcc	12	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72229332T>C	uc002llq.2	+	5	728	c.517T>C	c.(517-519)TGG>CGG	p.W173R	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	173					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTCTTGGCTTGGATCAATGC	0.512													C	72229332	T	C	72229332	3	2	273	1	0	0	0	0	1	0	0	0	3593	1812	63	3	535	3	CNDP1	18	72229332	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	48476	72229332	5847916	1631	138928											
ZNF407	55628	broad.mit.edu	37	chr18	72775214	72775216	+	In_Frame_Del	DEL	AGG	AGG	-													ggcagaagagcccctcgtcaAggagaagcccctcagaagca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72775213_72775215AAGG>A	uc002llw.2	+	7	5589_5591	c.5536_5538AAGG>A	c.(5536-5538)aag>A	p.K1846del		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V1845I(1)		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)		GCCCCTCGTCAAGGAGAAGCCCC	0.635													-	72775216	AGG	-	72775214	7	5	273	1	0	1	0	1	0	0	0	0	17884	72	3	0	5697	0	ZNF407	18	72775214	In_Frame_Del	DEL	AGG	TCGA-HU-A4GT-01A-21D-A25D-08	545882	72775214	5302034	1632	138929											
ZADH2	284273	broad.mit.edu	37	chr18	72913756	72913756	+	Frame_Shift_Del	DEL	C	C	-													cagccaagtcaaacatggctCccccaacagattcatagacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72913755_72913755TC>T	uc002llx.3	-	1	1018	c.750_750GA>A	c.(748-750)ggafs	p.G250fs	ZADH2_uc010dqv.3_Frame_Shift_Del_p.G127fs	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	250						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)		CAAACATGGCTCCCCCAACAG	0.502													-	72913756	C	-	72913756	7	5	273	1	0	1	0	1	0	0	0	0	17508	855	30	0	388	0	ZADH2	18	72913756	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	138542	72913756	5163492	1633	138930											
ADNP2	22850	broad.mit.edu	37	chr18	77893889	77893889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaaatgggtgagcaacCgaaaactaacgatactgttt	11	6	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:77893889C>T	uc002lnw.2	+	4	1048	c.593C>T	c.(592-594)CCG>CTG	p.P198L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	198					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGTGAGCAACCGAAAACTAAC	0.423													T	77893889	C	T	77893889	3	4	273	1	0	0	0	0	1	0	0	0	324	652	23	1	603	1	ADNP2	18	77893889	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4980133	77893889	183359	1634	138931											
THEG	51298	broad.mit.edu	37	chr19	362324	362324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcactttgggcttggccAgggagatgatccgggggctg	18	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:362324A>G	uc002lol.2	-	8	1055	c.1016T>C	c.(1015-1017)CTG>CCG	p.L339P	THEG_uc002lom.2_Missense_Mutation_p.L315P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	339	THEG 6.				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		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)		GGGCTTGGCCAGGGAGATGAT	0.602													G	362324	A	G	362324	3	3	273	1	0	0	0	0	1	0	0	0	15854	188	7	3	127	3	THEG	19	362324	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08		362324	58766659	1635	138932											
POLRMT	5442	broad.mit.edu	37	chr19	629979	629979	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgggtccgcttatccTtctccagtatctttgcccag	8	14	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:629979T>G	uc002lpf.1	-	3	439	c.383A>C	c.(382-384)AAG>ACG	p.K128T		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	128					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		CCGCTTATCCTTCTCCAGTAT	0.632													G	629979	T	G	629979	3	3	273	1	0	0	0	0	1	0	0	0	12238	1609	56	5	3385	5	POLRMT	19	629979	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	267655	629979	58499004	1636	138933											
ARID3A	1820	broad.mit.edu	37	chr19	971952	971952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggcggcggcggcggcAgcagcagcaacgcaggcggc	21	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:971952A>G	uc002lql.2	+	9	1959	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	557	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		cggcggcggcagcagcagcAA	0.532													G	971952	A	G	971952	3	3	273	1	0	0	0	0	1	0	0	0	916	188	7	3	1699	3	ARID3A	19	971952	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	341973	971952	58157031	1637	138934											
NDUFS7	374291	broad.mit.edu	37	chr19	1390983	1390983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcttccgcgccagcccGcgccagtccgacgtcatgat	12	16	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1390983G>A	uc002lse.3	+	5	385	c.342G>A	c.(340-342)CCG>CCA	p.P114P	NDUFS7_uc002lsf.2_Silent_p.P178P|NDUFS7_uc002lsh.2_Silent_p.P178P|NDUFS7_uc002lsg.2_Silent_p.P121P	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	114					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	GCGCCAGCCCGCGCCAGTCCG	0.682													A	1390983	G	A	1390983	2	1	273	1	0	0	0	0	0	0	0	1	10297	1074	38	1		1	NDUFS7	19	1390983	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	419031	1390983	57738000	1638	138935											
DAZAP1	26528	broad.mit.edu	37	chr19	1421167	1421167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggacccaggagcgaTaacagtaaatcaaataagat	9	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1421167T>C	uc002lsn.2	+	5	513	c.324T>C	c.(322-324)GAT>GAC	p.D108D	DAZAP1_uc002lsm.2_Silent_p.D108D|DAZAP1_uc002lso.2_Silent_p.D107D|DAZAP1_uc002lsl.1_Silent_p.D108D	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	108					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		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)		CCAGGAGCGATAACAGTAAAT	0.478													C	1421167	T	C	1421167	2	2	273	1	0	0	0	0	0	0	0	1	4244	1403	49	3		3	DAZAP1	19	1421167	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	30184	1421167	57707816	1639	138936											
ATP8B3	148229	broad.mit.edu	37	chr19	1807186	1807186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcgtccaccaggtccCgggtggcacggatgaagagg	15	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1807186C>T	uc002ltw.2	-	6	830	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	ATP8B3_uc002ltv.2_Missense_Mutation_p.R146Q|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_5'Flank|ATP8B3_uc002ltz.1_Missense_Mutation_p.R146Q	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	199	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		CACCAGGTCCCGGGTGGCACG	0.662													T	1807186	C	T	1807186	3	4	273	1	0	0	0	0	1	0	0	0	1196	652	23	1	3450	1	ATP8B3	19	1807186	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	386019	1807186	57321797	1640	138937											
SCAMP4	113178	broad.mit.edu	37	chr19	1918915	1918915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctttaatttcatggcGtttttcttcatcttcggagc	7	10	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1918915G>A	uc002luj.2	+	5	428	c.321G>A	c.(319-321)GCG>GCA	p.A107A	SCAMP4_uc002lui.1_Silent_p.A107A|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Silent_p.A63A	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	107	Helical; (Potential).				protein transport	integral to membrane					0		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)		ATTTCATGGCGTTTTTCTTCA	0.587													A	1918915	G	A	1918915	2	1	273	1	0	0	0	0	0	0	0	1	13873	1132	40	1		1	SCAMP4	19	1918915	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	111729	1918915	57210068	1641	138938											
MKNK2	2872	broad.mit.edu	37	chr19	2041038	2041038	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgcggctggtactcaCcccctgaacccaggggtgct	13	16	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2041038C>T	uc002lus.2	-	12	1355	c.1110_splice	c.e12+1	p.G370_splice	MKNK2_uc002luq.1_Splice_Site_p.G114_splice|MKNK2_uc010xgu.1_Splice_Site_p.G209_splice|MKNK2_uc010xgv.1_Splice_Site_p.G239_splice|MKNK2_uc002lur.2_Splice_Site_p.G370_splice|MKNK2_uc002lut.1_Missense_Mutation_p.V115M	NM_199054	NP_951009	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			lung(1)|breast(1)	2		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)		CTGGTACTCACCCCCTGAACC	0.672													T	2041038	C	T	2041038	5	4	273	1	0	0	0	0	0	0	1	0	9605	521	18	4	393	4	MKNK2	19	2041038	Splice_Site	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	122123	2041038	57087945	1642	138939											
MOBKL2A	126308	broad.mit.edu	37	chr19	2078215	2078215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggtccatgtacctgggCgcggagagtgccgtgggctt	17	10	0	1	rs141779492		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2078215C>T	uc002luu.2	-	1	504	c.345G>A	c.(343-345)GCG>GCA	p.A115A	MOBKL2A_uc002luv.2_Silent_p.A115A	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	MOB-LAK	115						intracellular	metal ion binding			lung(1)	1		Ovarian(11;1.78e-06)|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)		TGTACCTGGGCGCGGAGAGTG	0.627													T	2078215	C	T	2078215	2	4	273	1	0	0	0	0	0	0	0	1	9684	755	27	1		1	MOBKL2A	19	2078215	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	37177	2078215	57050768	1643	138940											
DOT1L	84444	broad.mit.edu	37	chr19	2211118	2211118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcctacagatcccctcacAgcccgttctaccagctacct	5	18	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2211118A>G	uc002lvb.3	+	15	1408	c.1372A>G	c.(1372-1374)AGC>GGC	p.S458G	DOT1L_uc002lvc.1_5'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	458				RSPHSPFYQLPPSV -> TLRTPSGSPRRTKL (in Ref. 3).		nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	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)		ATCCCCTCACAGCCCGTTCTA	0.701													G	2211118	A	G	2211118	3	3	273	1	0	0	0	0	1	0	0	0	4709	188	7	3	1430	3	DOT1L	19	2211118	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	132903	2211118	56917865	1644	138941											
JSRP1	126306	broad.mit.edu	37	chr19	2254198	2254198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacccactcgctccggcttTcagcctctccttccccgttc	5	20	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2254198T>G	uc002lvi.1	-	3	285	c.250A>C	c.(250-252)AAA>CAA	p.K84Q	JSRP1_uc002lvj.1_Missense_Mutation_p.K84Q	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	84						sarcoplasmic reticulum membrane				pancreas(1)	1				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)		GCTCCGGCTTTCAGCCTCTCC	0.637											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	2254198	T	G	2254198	3	3	273	1	0	0	0	0	1	0	0	0	7966	1792	62	5	761	5	JSRP1	19	2254198	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	43080	2254198	56874785	1645	138942											
TLE2	7089	broad.mit.edu	37	chr19	3005804	3005804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttggcgtcggggctgaCggccagggcgtagcaggctg	18	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3005804C>T	uc002lww.2	-	16	1926	c.1663G>A	c.(1663-1665)GTC>ATC	p.V555I	TLE2_uc010xhb.1_Missense_Mutation_p.V222I|TLE2_uc010dth.2_Missense_Mutation_p.V556I|TLE2_uc010xhc.1_Missense_Mutation_p.V433I|TLE2_uc010dti.2_Missense_Mutation_p.V569I	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	555	WD 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		TCGGGGCTGACGGCCAGGGCG	0.642													T	3005804	C	T	3005804	3	4	273	1	0	0	0	0	1	0	0	0	15936	536	19	1	588	1	TLE2	19	3005804	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	751606	3005804	56123179	1646	138943											
S1PR4	8698	broad.mit.edu	37	chr19	3179136	3179136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttccgtctggcgcccGcccagtggttcctacgggag	13	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3179136G>A	uc002lxg.2	+	1	371	c.346G>A	c.(346-348)GCC>ACC	p.A116T		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	116	Extracellular (By similarity).				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			lung(1)|skin(1)	2						TCTGGCGCCCGCCCAGTGGTT	0.677													A	3179136	G	A	3179136	3	1	273	1	0	0	0	0	1	0	0	0	13796	1087	38	1	348	1	S1PR4	19	3179136	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	173332	3179136	55949847	1647	138944											
NFIC	4782	broad.mit.edu	37	chr19	3449069	3449069	+	Frame_Shift_Del	DEL	C	C	-													gtcaccattcaacagcccgtCcccccaggactctccccgcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3449068_3449068TC>T	uc010xhi.2	+	6	1085	c.1015_1015TC>T	c.(1015-1017)tccfs	p.S339fs	NFIC_uc002lxo.3_Frame_Shift_Del_p.S330fs|NFIC_uc010xhh.2_Frame_Shift_Del_p.S330fs|NFIC_uc010xhj.2_Frame_Shift_Del_p.S339fs|NFIC_uc002lxp.3_Frame_Shift_Del_p.S339fs	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	339					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)		CAACAGCCCGTCCCCCCAGGA	0.667													-	3449069	C	-	3449069	7	5	273	1	0	1	0	1	0	0	0	0	10372	855	30	0	1049	0	NFIC	19	3449069	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	269933	3449069	55679914	1648	138945											
FZR1	51343	broad.mit.edu	37	chr19	3532075	3532075	+	Frame_Shift_Del	DEL	G	G	-													gaccaccagctcctcgcctcGgggggcaacgacaacaaggt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3532075delG	uc010dtk.2	+	9	1024	c.990delG	c.(988-990)TCGfs	p.S330fs	FZR1_uc002lxt.2_Frame_Shift_Del_p.S330fs|FZR1_uc002lxv.2_Frame_Shift_Del_p.S241fs	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	330	WD 4.				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			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCGCCTCGGGGGGCAACG	0.682													-	3532075	G	-	3532075	7	5	273	1	0	1	0	1	0	0	0	0	6138	1103	39	0	1024	0	FZR1	19	3532075	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	83006	3532075	55596908	1649	138946											
PIP5K1C	23396	broad.mit.edu	37	chr19	3651850	3651850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgattcgatggcctccccGcgcgcggcgccaccctggat	12	18	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3651850G>A	uc002lyj.1	-	8	1158	c.1101C>T	c.(1099-1101)CGC>CGT	p.R367R	PIP5K1C_uc010xhq.1_Silent_p.R367R|PIP5K1C_uc010xhr.1_Silent_p.R367R	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	367	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		TGGCCTCCCCGCGCGCGGCGC	0.706													A	3651850	G	A	3651850	2	1	273	1	0	0	0	0	0	0	0	1	11941	1074	38	1		1	PIP5K1C	19	3651850	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	119775	3651850	55477133	1650	138947											
ZFR2	23217	broad.mit.edu	37	chr19	3823364	3823364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttgggctggtttcccccaCtggggtctgcagcctgctgc	15	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3823364C>A	uc002lyw.2	-	8	1263	c.1251G>T	c.(1249-1251)CAG>CAT	p.Q417H	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	417						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTTTCCCCCACTGGGGTCTGC	0.612													A	3823364	C	A	3823364	3	1	273	1	0	0	0	0	1	0	0	0	17657	564	20	5	1616	5	ZFR2	19	3823364	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	171514	3823364	55305619	1651	138948											
EEF2	1938	broad.mit.edu	37	chr19	3976713	3976713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgggggaacgcctggcCgcccgtgttggacctcaggt	15	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3976713C>T	uc002lze.2	-	15	2499	c.2416G>A	c.(2416-2418)GGC>AGC	p.G806S		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	806						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		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)		AACGCCTGGCCGCCCGTGTTG	0.652													T	3976713	C	T	3976713	3	4	273	1	0	0	0	0	1	0	0	0	4929	652	23	1	164	1	EEF2	19	3976713	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	153349	3976713	55152270	1652	138949											
SHD	56961	broad.mit.edu	37	chr19	4282880	4282880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcagctggaagccgacaCtgagtatttagacccctttg	10	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:4282880C>T	uc002lzw.2	+	2	1774	c.311C>T	c.(310-312)ACT>ATT	p.T104I	SHD_uc010dtu.2_Missense_Mutation_p.T104I	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	104											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCCGACACTGAGTATTTA	0.577													T	4282880	C	T	4282880	3	4	273	1	0	0	0	0	1	0	0	0	14275	565	20	4	317	4	SHD	19	4282880	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	306167	4282880	54846103	1653	138950											
PLIN5	440503	broad.mit.edu	37	chr19	4529193	4529193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagctccacgctccagcGccggcccctccgggccaggt	11	20	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:4529193G>A	uc002mas.2	-	5	465	c.412C>T	c.(412-414)CGC>TGC	p.R138C	PLIN5_uc002mat.1_3'UTR	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	138						lipid particle					0						ACGCTCCAGCGCCGGCCCCTC	0.642													A	4529193	G	A	4529193	3	1	273	1	0	0	0	0	1	0	0	0	12093	1087	38	1	995	1	PLIN5	19	4529193	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	246313	4529193	54599790	1654	138951											
LONP1	9361	broad.mit.edu	37	chr19	5700808	5700808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggctcaccaggatgcGtttcttgacgtcctccatgc	10	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:5700808G>A	uc002mcx.2	-	9	1531	c.1498C>T	c.(1498-1500)CGC>TGC	p.R500C	LONP1_uc002mcy.2_Missense_Mutation_p.R436C|LONP1_uc010duh.2_Missense_Mutation_p.R241C|LONP1_uc010dui.2_Missense_Mutation_p.R484C|LONP1_uc002mcz.2_Missense_Mutation_p.R304C	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	500					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				0						ACCAGGATGCGTTTCTTGACG	0.597													A	5700808	G	A	5700808	3	1	273	1	0	0	0	0	1	0	0	0	8892	1145	40	1	1421	1	LONP1	19	5700808	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1171615	5700808	53428175	1655	138952											
FUT6	2528	broad.mit.edu	37	chr19	5832344	5832345	+	Frame_Shift_Ins	INS	-	-	G													ggcaccatctctgagcagcgINSgggcagagctatgggtttgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:5832343_5832344C>CG	uc002mdf.1	-	3	761_762	c.235_236G>CG	c.(235-237)cgcfs	p.R79fs	FUT6_uc021unl.1_Frame_Shift_Ins_p.R79fs|FUT6_uc002mdg.1_Frame_Shift_Ins_p.R79fs|FUT6_uc002mdh.1_Frame_Shift_Ins_p.R79fs|FUT6_uc021unm.1_Frame_Shift_Ins_p.R79fs	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	79					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						CTCTGAGCAGCGGGGCAGAGCT	0.619													G	5832345	-	G	5832344	7	5	273	1	0	1	1	0	0	0	0	0	6108	1116	39	0	848	0	FUT6	19	5832344	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	131536	5832344	53296639	1656	138953											
DENND1C	79958	broad.mit.edu	37	chr19	6468936	6468937	+	Frame_Shift_Ins	INS	-	-	C													ggctggggccctcagagagcINScccccctctgcaggacagag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:6468935_6468936G>GC	uc002mfe.3	-	19	1528_1529	c.1436_1437C>GC	c.(1435-1437)ggcfs	p.G479fs	DENND1C_uc002mfb.3_Frame_Shift_Ins_p.G29fs|DENND1C_uc002mfc.3_Frame_Shift_Ins_p.G29fs|DENND1C_uc002mfd.3_Frame_Shift_Ins_p.G29fs|DENND1C_uc010xje.2_Frame_Shift_Ins_p.G435fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCTCAGAGAGCCCCCCCTCTG	0.624													C	6468937	-	C	6468936	7	5	273	1	0	1	1	0	0	0	0	0	4428	739	26	0	985	0	DENND1C	19	6468936	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	636592	6468936	52660047	1657	138954											
TUBB4	10382	broad.mit.edu	37	chr19	6496155	6496155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcctccttccggactaCgtccaggacagcgtccacca	9	18	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:6496155C>T	uc002mfg.1	-	4	462	c.355G>A	c.(355-357)GTA>ATA	p.V119I	TUBB4_uc002mff.1_Missense_Mutation_p.V47I	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	119					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		TTCCGGACTACGTCCAGGACA	0.667													T	6496155	C	T	6496155	3	4	273	1	0	0	0	0	1	0	0	0	16755	536	19	1	983	1	TUBB4	19	6496155	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	27219	6496155	52632828	1658	138955											
TRIP10	9322	broad.mit.edu	37	chr19	6750380	6750381	+	Frame_Shift_Ins	INS	-	-	C													ggcacgcccggcctcccgacINSccccccgctagcgccccgcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:6750379_6750380A>AC	uc002mfs.3	+	12	1538_1539	c.1472_1473A>AC	c.(1471-1473)gacfs	p.D491fs	TRIP10_uc010dux.2_Frame_Shift_Ins_p.D435fs|TRIP10_uc002mfr.3_Frame_Shift_Ins_p.D435fs|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	491	Interaction with CDC42.|Interaction with DNM2 and WASL (By similarity).|Interaction with PDE6G (By similarity).|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729).	actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CGGCCTCCCGACCCCCCCGCTA	0.658													C	6750381	-	C	6750380	7	5	273	1	0	1	1	0	0	0	0	0	16551	506	18	0	1351	0	TRIP10	19	6750380	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	254225	6750380	52378603	1659	138956											
KIAA1543	57662	broad.mit.edu	37	chr19	7676636	7676636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggacagcgacgtggatgtCgtcatgggagaccctgtgct	15	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:7676636C>T	uc002mgv.3	+	11	1358	c.1257C>T	c.(1255-1257)GTC>GTT	p.V419V	KIAA1543_uc002mgu.3_Silent_p.V446V|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	419					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						ACGTGGATGTCGTCATGGGAG	0.726													T	7676636	C	T	7676636	2	4	273	1	0	0	0	0	0	0	0	1	8243	871	31	1		1	KIAA1543	19	7676636	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	926256	7676636	51452347	1660	138957											
KIAA1543	57662	broad.mit.edu	37	chr19	7677715	7677715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcccagccagtcaccccGcagcccgaaacacacgcggc	11	20	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:7677715G>A	uc002mgv.3	+	11	2437	c.2336G>A	c.(2335-2337)CGC>CAC	p.R779H	KIAA1543_uc002mgu.3_Missense_Mutation_p.R806H|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	779	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CAGTCACCCCGCAGCCCGAAA	0.751													A	7677715	G	A	7677715	3	1	273	1	0	0	0	0	1	0	0	0	8243	1087	38	1	2467	1	KIAA1543	19	7677715	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1079	7677715	51451268	1661	138958											
XAB2	56949	broad.mit.edu	37	chr19	7692277	7692277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcgggtgtgtgtgacgCgcccctggtccatgaggaac	17	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:7692277C>T	uc002mgx.2	-	4	400	c.374G>A	c.(373-375)CGC>CAC	p.R125H	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	125	HAT 4.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTGTGTGACGCGCCCCTGGTC	0.647								Direct_reversal_of_damage|NER					T	7692277	C	T	7692277	3	4	273	1	0	0	0	0	1	0	0	0	17415	768	27	1	2257	1	XAB2	19	7692277	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	14562	7692277	51436706	1662	138959											
FBN3	84467	broad.mit.edu	37	chr19	8154554	8154554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcacactcattcacgTctgcggatggcaggcgttgc	11	13	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:8154554T>C	uc002mjf.2	-	50	6272	c.6251A>G	c.(6250-6252)GAC>GGC	p.D2084G	FBN3_uc002mje.2_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2084	EGF-like 33; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTCATTCACGTCTGCGGATGG	0.592													C	8154554	T	C	8154554	3	2	273	1	0	0	0	0	1	0	0	0	5704	1681	58	3	2234	3	FBN3	19	8154554	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	462277	8154554	50974429	1663	138960											
PRAM1	84106	broad.mit.edu	37	chr19	8563150	8563150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggaagtggagcccagCggccgagcgggtcctccgta	16	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:8563150C>T	uc002mkd.2	-	3	1476	c.1456G>A	c.(1456-1458)GCT>ACT	p.A486T	PRAM1_uc002mkc.2_Missense_Mutation_p.A486T	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	534							lipid binding|protein binding				0						TGGAGCCCAGCGGCCGAGCGG	0.682													T	8563150	C	T	8563150	3	4	273	1	0	0	0	0	1	0	0	0	12423	768	27	1	585	1	PRAM1	19	8563150	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	408596	8563150	50565833	1664	138961											
MYO1F	4542	broad.mit.edu	37	chr19	8609190	8609190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggcgcaccttgccagcGtagtggtggatgacgaagcc	17	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:8609190G>A	uc002mkg.2	-	14	1629	c.1515C>T	c.(1513-1515)TAC>TAT	p.Y505Y		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	505	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CCTTGCCAGCGTAGTGGTGGA	0.682													A	8609190	G	A	8609190	2	1	273	1	0	0	0	0	0	0	0	1	10073	1140	40	1		1	MYO1F	19	8609190	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	46040	8609190	50519793	1665	138962											
ZNF317	57693	broad.mit.edu	37	chr19	9272026	9272026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcgggaaagccttcagcGaccactcatccctcaggagc	10	15	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:9272026G>A	uc002mku.2	+	7	1980	c.1705G>A	c.(1705-1707)GAC>AAC	p.D569N	ZNF317_uc002mkv.2_Missense_Mutation_p.D428N|ZNF317_uc002mkw.2_Missense_Mutation_p.D537N|ZNF317_uc002mkx.2_Missense_Mutation_p.D484N|ZNF317_uc002mky.2_Missense_Mutation_p.D452N	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	569	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCCTTCAGCGACCACTCATC	0.577													A	9272026	G	A	9272026	3	1	273	1	0	0	0	0	1	0	0	0	17832	1058	37	1	1727	1	ZNF317	19	9272026	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	662836	9272026	49856957	1666	138963											
OR7E24	26648	broad.mit.edu	37	chr19	9362157	9362157	+	Frame_Shift_Del	DEL	C	C	-													cggtttgtggccatctgtcaCcccctgcactaccgaatcat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:9362157delC	uc002mlb.1	+	1	438	c.438delC	c.(436-438)CACfs	p.H146fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	146	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CCATCTGTCACCCCCTGCACT	0.453													-	9362157	C	-	9362157	7	5	273	1	0	1	0	1	0	0	0	0	11221	506	18	0	440	0	OR7E24	19	9362157	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	90131	9362157	49766826	1667	138964											
RAVER1	125950	broad.mit.edu	37	chr19	10433828	10433828	+	Frame_Shift_Del	DEL	C	C	-													agccccaccttaccctgcttCccccccgcactgccatggag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10433828delC	uc002moa.2	-	5	1202	c.1122delG	c.(1120-1122)GGGfs	p.G374fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	357	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACCCTGCTTCCCCCCCGCAC	0.667													-	10433828	C	-	10433828	7	5	273	1	0	1	0	1	0	0	0	0	13094	842	30	0	1184	0	RAVER1	19	10433828	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	1071671	10433828	48695155	1668	138965											
PDE4A	5141	broad.mit.edu	37	chr19	10559812	10559812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcctgaccaatgtgccCgttcccagtaacaagtaagt	7	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10559812C>T	uc002moj.2	+	4	714	c.606C>T	c.(604-606)CCC>CCT	p.P202P	PDE4A_uc002mok.2_Silent_p.P176P|PDE4A_uc002mol.2_Silent_p.P141P	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	202					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			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)	CCAATGTGCCCGTTCCCAGTA	0.468													T	10559812	C	T	10559812	2	4	273	1	0	0	0	0	0	0	0	1	11639	639	23	1		1	PDE4A	19	10559812	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	125984	10559812	48569171	1669	138966											
AP1M2	10053	broad.mit.edu	37	chr19	10685628	10685628	+	Frame_Shift_Del	DEL	G	G	-													atctcaaacttgaccccgatGgggggccggccctccacctc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10685628delG	uc002mpc.2	-	10	1209	c.1125delC	c.(1123-1125)CCCfs	p.P375fs	AP1M2_uc002mpd.2_Frame_Shift_Del_p.P377fs	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	375	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGACCCCGATGGGGGGCCGGC	0.612													-	10685628	G	-	10685628	7	5	273	1	0	1	0	1	0	0	0	0	735	1335	47	0	158	0	AP1M2	19	10685628	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	125816	10685628	48443355	1670	138967											
DNM2	1785	broad.mit.edu	37	chr19	10934500	10934500	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggcagatcgagctggcCtgtgactcccaggaagacgt	14	12	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10934500C>A	uc002mps.1	+	17	1982	c.1818C>A	c.(1816-1818)GCC>GCA	p.A606A	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Silent_p.A606A|DNM2_uc002mpv.1_Silent_p.A602A|DNM2_uc002mpu.1_Silent_p.A602A|DNM2_uc010dxl.1_Silent_p.A606A|DNM2_uc002mpw.2_Silent_p.A335A|DNM2_uc002mpx.1_Translation_Start_Site	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	606	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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGAGCTGGCCTGTGACTCCC	0.652													A	10934500	C	A	10934500	2	1	273	1	0	0	0	0	0	0	0	1	4672	668	24	5		5	DNM2	19	10934500	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	248872	10934500	48194483	1671	138968											
YIPF2	78992	broad.mit.edu	37	chr19	11034828	11034828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtcaggttgccagtgacGgccaggacaaaggccaacgt	14	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11034828G>A	uc002mqb.2	-	6	532	c.408C>T	c.(406-408)GCC>GCT	p.A136A	YIPF2_uc002mqc.2_Silent_p.A136A	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	136	Helical; (Potential).					integral to membrane|transport vesicle					0						TGCCAGTGACGGCCAGGACAA	0.652													A	11034828	G	A	11034828	2	1	273	1	0	0	0	0	0	0	0	1	17475	1103	39	1		1	YIPF2	19	11034828	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	100328	11034828	48094155	1672	138969											
SMARCA4	6597	broad.mit.edu	37	chr19	11097604	11097604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggagggcccaacatgcctCccccaggaccctcgggcgtg	14	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11097604C>T	uc002mqf.3	+	5	1068	c.784C>T	c.(784-786)CCC>TCC	p.P262S	SMARCA4_uc010dxp.2_Missense_Mutation_p.P262S|SMARCA4_uc010dxo.2_Missense_Mutation_p.P262S|SMARCA4_uc002mqg.1_Missense_Mutation_p.P262S|SMARCA4_uc010dxq.2_Missense_Mutation_p.P262S|SMARCA4_uc010dxr.2_Missense_Mutation_p.P262S|SMARCA4_uc002mqj.3_Missense_Mutation_p.P262S|SMARCA4_uc010dxs.2_Missense_Mutation_p.P262S|SMARCA4_uc002mqe.2_Missense_Mutation_p.P262S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	262	Necessary for interaction with SS18L1/CREST (By similarity).				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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAACATGCCTCCCCCAGGACC	0.647			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11097604	C	T	11097604	3	4	273	1	0	0	0	0	1	0	0	0	14770	855	30	4	798	4	SMARCA4	19	11097604	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	62776	11097604	48031379	1673	138970											
DOCK6	57572	broad.mit.edu	37	chr19	11326072	11326072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacacctacttgtccacgCggtctgaggtttgcttccag	9	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11326072C>T	uc002mqs.3	-	32	4138	c.4097G>A	c.(4096-4098)CGC>CAC	p.R1366H	DOCK6_uc010xlq.1_Missense_Mutation_p.R705H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1366					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTGTCCACGCGGTCTGAGGT	0.448													T	11326072	C	T	11326072	3	4	273	1	0	0	0	0	1	0	0	0	4691	768	27	1	2114	1	DOCK6	19	11326072	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	228468	11326072	47802911	1674	138971											
DOCK6	57572	broad.mit.edu	37	chr19	11356364	11356364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcatggagtccgagttcaGgtcgaagtagaagttctccg	12	9	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11356364G>T	uc002mqs.3	-	9	939	c.898C>A	c.(898-900)CTG>ATG	p.L300M		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	300					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCCGAGTTCAGGTCGAAGTAG	0.622													T	11356364	G	T	11356364	3	4	273	1	0	0	0	0	1	0	0	0	4691	991	35	5	5405	5	DOCK6	19	11356364	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	30292	11356364	47772619	1675	138972											
ECSIT	51295	broad.mit.edu	37	chr19	11624767	11624767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacacagccaggtcccgctcGacaccatactcccgcatctt	6	18	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11624767G>A	uc002msb.2	-	3	500	c.366C>T	c.(364-366)GTC>GTT	p.V122V	ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Silent_p.V122V|ECSIT_uc010dyd.2_Silent_p.V122V|ECSIT_uc010xma.1_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	122					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						GGTCCCGCTCGACACCATACT	0.587													A	11624767	G	A	11624767	2	1	273	1	0	0	0	0	0	0	0	1	4900	1045	37	1		1	ECSIT	19	11624767	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	268403	11624767	47504216	1676	138973											
ZNF625	90589	broad.mit.edu	37	chr19	12256320	12256320	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcccacattgcttacatTcatagggcttctctccagtg	6	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12256320T>C	uc002mth.2	-	4	1063	c.713A>G	c.(712-714)GAA>GGA	p.E238G	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.E272G	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	238	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGCTTACATTCATAGGGCTT	0.448													C	12256320	T	C	12256320	3	2	273	1	0	0	0	0	1	0	0	0	18046	1783	62	3	211	3	ZNF625	19	12256320	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	631553	12256320	46872663	1677	138974											
ZNF799	90576	broad.mit.edu	37	chr19	12501535	12501535	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacattgttgacactcataGggtttctctctcatgtgaat	7	10	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12501535G>T	uc010dyt.2	-	4	1827	c.1677C>A	c.(1675-1677)CCC>CCA	p.P559P	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GACACTCATAGGGTTTCTCTC	0.413													T	12501535	G	T	12501535	2	4	273	1	0	0	0	0	0	0	0	1	18163	987	35	5		5	ZNF799	19	12501535	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	245215	12501535	46627448	1678	138975											
ZNF490	57474	broad.mit.edu	37	chr19	12691724	12691725	+	Frame_Shift_Ins	INS	-	-	T													cattgtttacattcatagggINStttttctccaaaatgagttc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12691724_12691725insT	uc002mtz.2	-	5	1293_1294	c.1164_1165insA	c.(1162-1167)AAACCCfs	p.K388fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	388_389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTCATAGGGTTTTTCTCCAA	0.406													T	12691725	-	T	12691724	7	5	273	1	0	1	1	0	0	0	0	0	17938	1261	44	0	428	0	ZNF490	19	12691724	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	190189	12691724	46437259	1679	138976	743	2									
ZNF490	57474	broad.mit.edu	37	chr19	12691725	12691726	+	Frame_Shift_Ins	INS	-	-	T													attgtttacattcatagggtINSttttctccaaaatgagttct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12691724_12691725G>GT	uc002mtz.2	-	4	1293_1294	c.1164_1165C>AC	c.(1162-1167)aaacccfs	p.K388fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P389P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATTCATAGGGTTTTTCTCCAA	0.406													T	12691726	-	T	12691725	7	5	273	1	0	1	1	0	0	0	0	0	17938	1722	60	0	429	0	ZNF490	19	12691725	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	12691725	46437258	1680	138977	743	2									
TNPO2	30000	broad.mit.edu	37	chr19	12822199	12822199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcgtggggcagtgtgAccgtgcgtgacttgtggaag	17	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12822199A>G	uc002muo.2	-	11	1213	c.1028T>C	c.(1027-1029)GTC>GCC	p.V343A	TNPO2_uc002mup.2_Missense_Mutation_p.V435A|TNPO2_uc002muq.2_Missense_Mutation_p.V343A|TNPO2_uc002mur.2_Missense_Mutation_p.V343A	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	343					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGGCAGTGTGACCGTGCGTGA	0.607													G	12822199	A	G	12822199	3	3	273	1	0	0	0	0	1	0	0	0	16333	275	10	3	1721	3	TNPO2	19	12822199	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	130474	12822199	46306784	1681	138978											
JUNB	3726	broad.mit.edu	37	chr19	12903208	12903208	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgggaccgggagctcgtAcccgacgaccaccatcagct	12	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12903208A>G	uc002mvc.2	+	1	899	c.623A>G	c.(622-624)TAC>TGC	p.Y208C	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	208						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						GGGAGCTCGTACCCGACGACC	0.726													G	12903208	A	G	12903208	3	3	273	1	0	0	0	0	1	0	0	0	7970	391	14	3	625	3	JUNB	19	12903208	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	81009	12903208	46225775	1682	138979											
CC2D1A	54862	broad.mit.edu	37	chr19	14020713	14020713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgatgaagaactggaggcTgagttcttggctttggtcgg	15	6	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:14020713T>C	uc002mxo.2	+	2	437	c.138T>C	c.(136-138)GCT>GCC	p.A46A	CC2D1A_uc002mxn.2_Missense_Mutation_p.L6P|CC2D1A_uc002mxp.2_Silent_p.A46A	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	46					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				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AACTGGAGGCTGAGTTCTTGG	0.537													C	14020713	T	C	14020713	2	2	273	1	0	0	0	0	0	0	0	1	2726	1567	55	3		3	CC2D1A	19	14020713	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1117505	14020713	45108270	1683	138980											
LPHN1	22859	broad.mit.edu	37	chr19	14271455	14271455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagttgctgaggtcagGgccccgggggttccagagcc	18	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:14271455G>T	uc010xnn.1	-	8	1875	c.1579C>A	c.(1579-1581)CCT>ACT	p.P527T	LPHN1_uc010xno.1_Missense_Mutation_p.P522T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	527	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CTGAGGTCAGGGCCCCGGGGG	0.527													T	14271455	G	T	14271455	3	4	273	1	0	0	0	0	1	0	0	0	8915	1232	43	5	2913	5	LPHN1	19	14271455	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	250742	14271455	44857528	1684	138981											
PKN1	5585	broad.mit.edu	37	chr19	14561159	14561159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggggctgtggagctgCgcatcgaagagctgcggcac	17	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:14561159C>T	uc002myp.2	+	5	808	c.640C>T	c.(640-642)CGC>TGC	p.R214C	PKN1_uc002myq.2_Missense_Mutation_p.R220C	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	214	REM 3.				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			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						TGTGGAGCTGCGCATCGAAGA	0.667													T	14561159	C	T	14561159	3	4	273	1	0	0	0	0	1	0	0	0	11979	768	27	1	701	1	PKN1	19	14561159	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	289704	14561159	44567824	1685	138982											
NOTCH3	4854	broad.mit.edu	37	chr19	15289908	15289908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcccgggtgtgtgccgCgtggcaggcacctgagcgac	17	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:15289908C>T	uc002nan.2	-	22	3722	c.3646G>A	c.(3646-3648)GCG>ACG	p.A1216T	NOTCH3_uc002nao.1_Missense_Mutation_p.A1164T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1216	Extracellular (Potential).|EGF-like 31.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGTGTGCCGCGTGGCAGGCA	0.637													T	15289908	C	T	15289908	3	4	273	1	0	0	0	0	1	0	0	0	10550	768	27	1	3367	1	NOTCH3	19	15289908	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	728749	15289908	43839075	1686	138983											
AKAP8	10270	broad.mit.edu	37	chr19	15466095	15466095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtccgcggccacctcctcAggtgtctctttcttatcctc	7	17	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:15466095A>G	uc002nav.2	-	14	1771	c.1710T>C	c.(1708-1710)CCT>CCC	p.P570P	AKAP8_uc010dzy.2_Silent_p.P119P	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	570					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						CCACCTCCTCAGGTGTCTCTT	0.567													G	15466095	A	G	15466095	2	3	273	1	0	0	0	0	0	0	0	1	457	175	7	3		3	AKAP8	19	15466095	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	176187	15466095	43662888	1687	138984											
CHERP	10523	broad.mit.edu	37	chr19	16631029	16631029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgacttggaccgggaccgcGactgggaccgggagcggctt	17	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:16631029G>A	uc002nei.1	-	15	2467	c.2393C>T	c.(2392-2394)TCG>TTG	p.S798L	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.S337L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	798	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						CCGGGACCGCGACTGGGACCG	0.672													A	16631029	G	A	16631029	3	1	273	1	0	0	0	0	1	0	0	0	3336	1059	37	1	369	1	CHERP	19	16631029	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1164934	16631029	42497954	1688	138985											
CHERP	10523	broad.mit.edu	37	chr19	16641463	16641463	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcatcgaagtagccgTttttctcccagagctgcagg	12	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:16641463T>G	uc002nei.1	-	7	883	c.809A>C	c.(808-810)AAC>ACC	p.N270T	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	270	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GAAGTAGCCGTTTTTCTCCCA	0.632													G	16641463	T	G	16641463	3	3	273	1	0	0	0	0	1	0	0	0	3336	1725	60	5	1985	5	CHERP	19	16641463	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	10434	16641463	42487520	1689	138986											
ANKLE1	126549	broad.mit.edu	37	chr19	17394613	17394613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagctctacaggtggcaGggaacctgtcggcccttgcc	14	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:17394613G>T	uc002nga.2	+	5	1316	c.1040G>T	c.(1039-1041)AGG>ATG	p.R347M	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.R369M|ANKLE1_uc010xpn.1_Missense_Mutation_p.R401M|ANKLE1_uc002nfy.2_Missense_Mutation_p.R336M|ANKLE1_uc002nfz.2_Missense_Mutation_p.R53M	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	347						nuclear envelope					0						ACAGGTGGCAGGGAACCTGTC	0.587													T	17394613	G	T	17394613	3	4	273	1	0	0	0	0	1	0	0	0	632	1000	35	5	1058	5	ANKLE1	19	17394613	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	753150	17394613	41734370	1690	138987											
ABHD8	79575	broad.mit.edu	37	chr19	17405603	17405603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccattgatcatgatcacCttgtgcactaggtctgggta	10	11	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:17405603C>A	uc002ngb.3	-	3	1053	c.813G>T	c.(811-813)AAG>AAT	p.K271N		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	271							hydrolase activity				0						TCATGATCACCTTGTGCACTA	0.597													A	17405603	C	A	17405603	3	1	273	1	0	0	0	0	1	0	0	0	87	680	24	5	518	5	ABHD8	19	17405603	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	10990	17405603	41723380	1691	138988											
FCHO1	23149	broad.mit.edu	37	chr19	17883346	17883346	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcactcggtggaggacacGcacgtgcagattgggcaggt	16	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:17883346G>T	uc010ebb.2	+	9	864	c.675G>T	c.(673-675)ACG>ACT	p.T225T	FCHO1_uc002nhg.3_Silent_p.T225T|FCHO1_uc002nhh.2_Silent_p.T225T|FCHO1_uc010xpw.1_Silent_p.T175T|FCHO1_uc010ebc.1_Silent_p.T232T	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	225										breast(1)	1						TGGAGGACACGCACGTGCAGA	0.617													T	17883346	G	T	17883346	2	4	273	1	0	0	0	0	0	0	0	1	5787	1074	38	5		5	FCHO1	19	17883346	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	477743	17883346	41245637	1692	138989											
PIK3R2	5296	broad.mit.edu	37	chr19	18273783	18273783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctcccccaggaaaggCgggaacaataagctgatcaa	9	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18273783C>T	uc002nia.1	+	10	1628	c.1116C>T	c.(1114-1116)GGC>GGT	p.G372G	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	372	SH2 1.				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			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CCAGGAAAGGCGGGAACAATA	0.507													T	18273783	C	T	18273783	2	4	273	1	0	0	0	0	0	0	0	1	11919	755	27	1		1	PIK3R2	19	18273783	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	390437	18273783	40855200	1693	138990											
KIAA1683	80726	broad.mit.edu	37	chr19	18376524	18376524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcgcctgtttctgggtgCcagtcttgattttctcggct	10	10	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18376524C>T	uc002nin.2	-	3	2042	c.1826G>A	c.(1825-1827)GGC>GAC	p.G609D	KIAA1683_uc010ebn.2_Missense_Mutation_p.G609D|KIAA1683_uc010xqe.1_Missense_Mutation_p.G563D	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	609						mitochondrion				ovary(2)	2						TTTCTGGGTGCCAGTCTTGAT	0.562													T	18376524	C	T	18376524	3	4	273	1	0	0	0	0	1	0	0	0	8251	739	26	2	2285	2	KIAA1683	19	18376524	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	102741	18376524	40752459	1694	138991											
ELL	8178	broad.mit.edu	37	chr19	18561556	18561556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggtcattgctgacaTcggccagggggtcgtgggcc	17	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18561556T>C	uc002njh.2	-	8	1268	c.1196A>G	c.(1195-1197)GAT>GGT	p.D399G	ELL_uc010ebq.2_Missense_Mutation_p.D342G|ELL_uc002njg.2_Missense_Mutation_p.D266G	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	399					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		ATTGCTGACATCGGCCAGGGG	0.741			T	MLL	AL								C	18561556	T	C	18561556	3	2	273	1	0	0	0	0	1	0	0	0	5062	1435	50	3	689	3	ELL	19	18561556	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	185032	18561556	40567427	1695	138992											
CRTC1	23373	broad.mit.edu	37	chr19	18876242	18876242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctggctcctctccacaGcaccgcccagctggcgtcag	9	19	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18876242G>A	uc002nkb.3	+	9	1003	c.915G>A	c.(913-915)CAG>CAA	p.Q305Q	CRTC1_uc010ebv.2_Silent_p.Q321Q|CRTC1_uc010ebw.2_Silent_p.Q170Q|CRTC1_uc002nkc.3_Silent_p.Q170Q	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	305	Ser-rich.				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)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CCTCTCCACAGCACCGCCCAG	0.622													A	18876242	G	A	18876242	2	1	273	1	0	0	0	0	0	0	0	1	3899	962	34	2		2	CRTC1	19	18876242	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	314686	18876242	40252741	1696	138993											
COMP	1311	broad.mit.edu	37	chr19	18899282	18899282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccgtctaggtcagtgtcGcgaccacagaggatcccgtt	12	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18899282G>A	uc002nke.2	-	8	840	c.804C>T	c.(802-804)CGC>CGT	p.R268R	COMP_uc002nkd.2_Silent_p.R235R|COMP_uc010xqj.1_Silent_p.R215R	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	268	TSP type-3 1.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GGTCAGTGTCGCGACCACAGA	0.701													A	18899282	G	A	18899282	2	1	273	1	0	0	0	0	0	0	0	1	3724	1074	38	1		1	COMP	19	18899282	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	23040	18899282	40229701	1697	138994											
SF4	57794	broad.mit.edu	37	chr19	19407809	19407809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcccacctgacagaggcGagggagaggcatccacgtcc	13	14	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19407809G>A	uc002nmh.2	-	8	1234	c.1232C>T	c.(1231-1233)TCG>TTG	p.S411L	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.S201L|SF4_uc002nmj.2_Missense_Mutation_p.S201L|SF4_uc010xqr.1_RNA	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	411					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						TGACAGAGGCGAGGGAGAGGC	0.463													A	19407809	G	A	19407809	3	1	273	1	0	0	0	0	1	0	0	0	14155	1059	37	1	733	1	SF4	19	19407809	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	508527	19407809	39721174	1698	138995											
KIAA0892	23383	broad.mit.edu	37	chr19	19455695	19455695	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgccagcagtccccccGgctcttctccaaccatgcag	9	18	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19455695G>T	uc002nmk.3	+	11	1154	c.1115G>T	c.(1114-1116)CGG>CTG	p.R372L	KIAA0892_uc002nml.3_5'UTR|KIAA0892_uc010ecd.2_5'Flank|KIAA0892_uc010ece.2_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	hypothetical protein LOC23383 precursor	372					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding				0						CAGTCCCCCCGGCTCTTCTCC	0.577													T	19455695	G	T	19455695	3	4	273	1	0	0	0	0	1	0	0	0	8196	1116	39	5	1157	5	KIAA0892	19	19455695	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	47886	19455695	39673288	1699	138996											
GATAD2A	54815	broad.mit.edu	37	chr19	19613208	19613208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacacgttcagtccgtcAcccaaactgcagaactcagc	7	16	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19613208A>G	uc010xqt.1	+	11	1956	c.1644A>G	c.(1642-1644)TCA>TCG	p.S548S	GATAD2A_uc010xqu.1_Silent_p.S177S|GATAD2A_uc010xqv.1_Silent_p.S568S|GATAD2A_uc010xqw.1_Silent_p.S351S	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	548					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCAGTCCGTCACCCAAACTGC	0.662													G	19613208	A	G	19613208	2	3	273	1	0	0	0	0	0	0	0	1	6260	146	6	3		3	GATAD2A	19	19613208	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	157513	19613208	39515775	1700	138997											
GMIP	51291	broad.mit.edu	37	chr19	19751333	19751333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcatattccagggctgCgtccacacccccctttgtcc	8	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19751333C>T	uc002nnd.2	-	5	403	c.286G>A	c.(286-288)GCA>ACA	p.A96T	GMIP_uc010xrb.1_Missense_Mutation_p.A96T|GMIP_uc010xrc.1_Missense_Mutation_p.A96T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	96					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TCCAGGGCTGCGTCCACACCC	0.577													T	19751333	C	T	19751333	3	4	273	1	0	0	0	0	1	0	0	0	6491	768	27	1	2694	1	GMIP	19	19751333	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	138125	19751333	39377650	1701	138998											
ATP13A1	57130	broad.mit.edu	37	chr19	19758069	19758069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggatgagggcattgagcgCcaggatcttgaacatctgta	13	8	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19758069C>A	uc002nnh.3	-	22	3002	c.2974G>T	c.(2974-2976)GCG>TCG	p.A992S	ATP13A1_uc002nne.2_Missense_Mutation_p.A132S|ATP13A1_uc002nnf.3_Missense_Mutation_p.A360S|ATP13A1_uc002nng.2_Missense_Mutation_p.A874S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	992	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GCATTGAGCGCCAGGATCTTG	0.627													A	19758069	C	A	19758069	3	1	273	1	0	0	0	0	1	0	0	0	1123	739	26	5	660	5	ATP13A1	19	19758069	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	6736	19758069	39370914	1702	138999											
ATP13A1	57130	broad.mit.edu	37	chr19	19770428	19770428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgttgctcccaaatttcTtctcagctgctcggatctct	6	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19770428T>C	uc002nnh.3	-	3	687	c.659A>G	c.(658-660)AAG>AGG	p.K220R	ATP13A1_uc002nng.2_Missense_Mutation_p.K102R	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	220	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CCCAAATTTCTTCTCAGCTGC	0.527													C	19770428	T	C	19770428	3	2	273	1	0	0	0	0	1	0	0	0	1123	1609	56	3	3051	3	ATP13A1	19	19770428	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	12359	19770428	39358555	1703	139000											
ZNF506	440515	broad.mit.edu	37	chr19	19905686	19905686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatttgtagggtacatctCcagtatgaattctcttatgt	7	8	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19905686C>T	uc010eci.2	-	4	1158	c.1010G>A	c.(1009-1011)GGA>GAA	p.G337E	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.G305E	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						GGGTACATCTCCAGTATGAAT	0.403													T	19905686	C	T	19905686	3	4	273	1	0	0	0	0	1	0	0	0	17949	855	30	4	328	4	ZNF506	19	19905686	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	135258	19905686	39223297	1704	139001											
ZNF676	163223	broad.mit.edu	37	chr19	22363929	22363929	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccacattcttcacatttgTagggtttctctccagtatga	7	10	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:22363929T>A	uc002nqs.1	-	3	908	c.590A>T	c.(589-591)TAC>TTC	p.Y197F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	197	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCACATTTGTAGGGTTTCTC	0.353													A	22363929	T	A	22363929	3	1	273	1	0	0	0	0	1	0	0	0	18080	1638	57	5	1180	5	ZNF676	19	22363929	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2458243	22363929	36765054	1705	139002											
ZNF91	7644	broad.mit.edu	37	chr19	23543932	23543932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatcctcttatgtcttcttaGggttgaggaccatagaaatg	9	7	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:23543932G>T	uc002nre.2	-	4	1962	c.1849C>A	c.(1849-1851)CTA>ATA	p.L617I	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.L585I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	617	C2H2-type 17.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTCTTCTTAGGGTTGAGGAC	0.388													T	23543932	G	T	23543932	3	4	273	1	0	0	0	0	1	0	0	0	18197	991	35	5	1730	5	ZNF91	19	23543932	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1180003	23543932	35585051	1706	139003											
ZNF536	9745	broad.mit.edu	37	chr19	30934699	30934699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgagcggccagcccaTgggcagtcagatggcgctcc	14	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:30934699T>C	uc002nsu.1	+	2	368	c.230T>C	c.(229-231)ATG>ACG	p.M77T	ZNF536_uc010edd.1_Missense_Mutation_p.M77T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGCCAGCCCATGGGCAGTCAG	0.682													C	30934699	T	C	30934699	3	2	273	1	0	0	0	0	1	0	0	0	17971	1464	51	3	232	3	ZNF536	19	30934699	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	7390767	30934699	28194284	1707	139004											
TSHZ3	57616	broad.mit.edu	37	chr19	31769062	31769063	+	Frame_Shift_Ins	INS	-	-	C													ggcatggatgctgggatagcINSccccccagctaggagtgccg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:31769061_31769062G>GC	uc002nsy.4	-	1	1702_1703	c.1637_1638C>GC	c.(1636-1638)ggcfs	p.G546fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	546					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)					TGCTGGGATAGCCCCCCCAGCT	0.559													C	31769063	-	C	31769062	7	5	273	1	0	1	1	0	0	0	0	0	16622	739	26	0	1612	0	TSHZ3	19	31769062	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	834363	31769062	27359921	1708	139005											
TSHZ3	57616	broad.mit.edu	37	chr19	31769334	31769334	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctggcaggtgtattggaGggggacgtgaaggtggtggc	21	4	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:31769334G>T	uc002nsy.3	-	2	1430	c.1365C>A	c.(1363-1365)CCC>CCA	p.P455P		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	455					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GTGTATTGGAGGGGGACGTGA	0.552													T	31769334	G	T	31769334	2	4	273	1	0	0	0	0	0	0	0	1	16622	987	35	5		5	TSHZ3	19	31769334	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	272	31769334	27359649	1709	139006											
SLC7A9	11136	broad.mit.edu	37	chr19	33350757	33350757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcactcaccacagccaccGcctgggactgcaggagttcg	13	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:33350757G>A	uc002ntv.3	-	8	980	c.863C>T	c.(862-864)GCG>GTG	p.A288V	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.A288V|SLC7A9_uc002ntw.3_Missense_Mutation_p.A79V	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	288	Extracellular (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGCCACCGCCTGGGACTG	0.632													A	33350757	G	A	33350757	3	1	273	1	0	0	0	0	1	0	0	0	14705	1087	38	1	624	1	SLC7A9	19	33350757	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1581423	33350757	25778226	1710	139007											
LSM14A	26065	broad.mit.edu	37	chr19	34712563	34712563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggcagaggtggtAccttcactgcccctcgagga	16	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:34712563A>G	uc002nvb.3	+	9	1484	c.1288A>G	c.(1288-1290)ACC>GCC	p.T430A	LSM14A_uc002nva.3_Missense_Mutation_p.T430A|LSM14A_uc010xru.1_Missense_Mutation_p.T389A|LSM14A_uc002nvc.3_Missense_Mutation_p.T236A	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	430					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					CAGAGGTGGTACCTTCACTGC	0.562													G	34712563	A	G	34712563	3	3	273	1	0	0	0	0	1	0	0	0	9054	391	14	3	1322	3	LSM14A	19	34712563	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1361806	34712563	24416420	1711	139008											
MAG	4099	broad.mit.edu	37	chr19	35791237	35791237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgacccccgccgaagaCggcgtctatgcctgcctggc	14	15	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:35791237C>T	uc002nyy.1	+	6	1049	c.900C>T	c.(898-900)GAC>GAT	p.D300D	MAG_uc002nyx.1_Silent_p.D300D|MAG_uc010eds.1_Silent_p.D275D|MAG_uc002nyz.1_Silent_p.D300D	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	300	Ig-like C2-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			CCGCCGAAGACGGCGTCTATG	0.687													T	35791237	C	T	35791237	2	4	273	1	0	0	0	0	0	0	0	1	9162	535	19	1		1	MAG	19	35791237	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1078674	35791237	23337746	1712	139009											
SBSN	374897	broad.mit.edu	37	chr19	36017595	36017595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggttgaccccattatgaGcattctgcagctccttcccg	8	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36017595G>A	uc002oae.1	-	2	630	c.560C>T	c.(559-561)GCT>GTT	p.A187V	SBSN_uc002oad.1_Missense_Mutation_p.A530V	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	suprabasin isoform 2 precursor	187	Ala/Gly/His-rich.					extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCATTATGAGCATTCTGCAG	0.607													A	36017595	G	A	36017595	3	1	273	1	0	0	0	0	1	0	0	0	13864	971	34	2	199	2	SBSN	19	36017595	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	226358	36017595	23111388	1713	139010											
ATP4A	495	broad.mit.edu	37	chr19	36042379	36042379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctggaaggcagagagaCggcgcgtcttgcggatgagg	18	8	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36042379C>T	uc002oal.1	-	19	2884	c.2855G>A	c.(2854-2856)CGT>CAT	p.R952H	ATP4A_uc010eee.1_Missense_Mutation_p.R110H	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	952	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	GGCAGAGAGACGGCGCGTCTT	0.597													T	36042379	C	T	36042379	3	4	273	1	0	0	0	0	1	0	0	0	1145	536	19	1	268	1	ATP4A	19	36042379	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	24784	36042379	23086604	1714	139011											
KIRREL2	84063	broad.mit.edu	37	chr19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-													aacccacacctgggcatggtCcccccctgcagactttacag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627													-	36357214	C	-	36357214	7	5	273	1	0	1	0	1	0	0	0	0	8325	842	30	0	2005	0	KIRREL2	19	36357214	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	314835	36357214	22771769	1715	139012											
POLR2I	5438	broad.mit.edu	37	chr19	36605757	36605757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtaagtcccgtcgggctccAtggcgacgcgcagcccgcgc	14	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36605757A>G	uc002ode.2	-	1	450	c.2T>C	c.(1-3)ATG>ACG	p.M1T	POLR2I_uc002odf.2_RNA|TBCB_uc002odg.1_5'Flank|TBCB_uc002odh.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	DNA directed RNA polymerase II polypeptide I	1					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				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCGGGCTCCATGGCGACGCG	0.682													G	36605757	A	G	36605757	3	3	273	1	0	0	0	0	1	0	0	0	12222	217	8	3	399	3	POLR2I	19	36605757	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	248543	36605757	22523226	1716	139013											
CAPNS1	826	broad.mit.edu	37	chr19	36637205	36637205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttggtcaggctggacGccatgttccgtgagtgacaa	14	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36637205G>A	uc002odj.2	+	9	869	c.712G>A	c.(712-714)GCC>ACC	p.A238T	CAPNS1_uc002odi.1_Missense_Mutation_p.A238T|CAPNS1_uc002odk.2_Missense_Mutation_p.A238T|CAPNS1_uc002odl.2_Missense_Mutation_p.A238T	NM_001749	NP_001740	P04632	CPNS1_HUMAN	calpain, small subunit 1	238	EF-hand 5.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGCTGGACGCCATGTTCCG	0.423													A	36637205	G	A	36637205	3	1	273	1	0	0	0	0	1	0	0	0	2633	1087	38	1	742	1	CAPNS1	19	36637205	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	31448	36637205	22491778	1717	139014											
ZNF790	388536	broad.mit.edu	37	chr19	37310238	37310238	+	Frame_Shift_Del	DEL	T	T	-													cactccttacattcataaggTttttcaccagtgtgaattct							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:37310237_37310237GT>G	uc021utk.1	-	4	1438	c.1009_1009AC>C	c.(1009-1011)cctfs	p.P337fs	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Frame_Shift_Del_p.P337fs|ZNF790_uc021utl.1_Frame_Shift_Del_p.P337fs|ZNF790_uc021utm.1_Frame_Shift_Del_p.P337fs	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P337L(1)		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)			CATTCATAAGGTTTTTCACCA	0.383													-	37310238	T	-	37310238	7	5	273	1	0	1	0	1	0	0	0	0	18159	1722	60	0	906	0	ZNF790	19	37310238	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	673033	37310238	21818745	1718	139015											
ZNF829	374899	broad.mit.edu	37	chr19	37382841	37382841	+	Frame_Shift_Del	DEL	A	A	-													gtatgaattctcagatgtagAaaaagttgtgaacttttagt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:37382840_37382840GA>G	uc021utr.1	-	5	1163	c.1096_1096TC>C	c.(1096-1098)ctafs	p.L366fs	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Frame_Shift_Del_p.L285fs	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E366K(1)		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)			CTCAGATGTAGAAAAAGTTGT	0.363													-	37382841	A	-	37382841	7	5	273	1	0	1	0	1	0	0	0	0	18179	243	9	0	450	0	ZNF829	19	37382841	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	72603	37382841	21746142	1719	139016											
RYR1	6261	broad.mit.edu	37	chr19	38948932	38948932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggactgcatctctggacaGgtacctgaccccttccaggg	11	13	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:38948932G>A	uc002oit.2	+	18	2297	c.2167G>A	c.(2167-2169)GGA>AGA	p.G723R	RYR1_uc002oiu.2_Missense_Mutation_p.G723R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	723	Cytoplasmic.|B30.2/SPRY 1.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTCTGGACAGGTACCTGACC	0.617													A	38948932	G	A	38948932	3	1	273	1	0	0	0	0	1	0	0	0	13768	1014	35	4	2237	4	RYR1	19	38948932	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1566091	38948932	20180051	1720	139017											
RYR1	6261	broad.mit.edu	37	chr19	39068588	39068588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatggggacatctacgggCgggagcggattgctgagcta	16	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:39068588C>T	uc002oit.2	+	98	14333	c.14203C>T	c.(14203-14205)CGG>TGG	p.R4735W	RYR1_uc002oiu.2_Missense_Mutation_p.R4730W	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4735					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCTACGGGCGGGAGCGGAT	0.617													T	39068588	C	T	39068588	3	4	273	1	0	0	0	0	1	0	0	0	13768	759	27	1	14593	1	RYR1	19	39068588	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	119656	39068588	20060395	1721	139018											
HNRNPL	3191	broad.mit.edu	37	chr19	39334550	39334550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgaacacattcaagcgtGtaggctgcaaggacaggaca	11	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:39334550G>A	uc010xul.1	-	6	823	c.812C>T	c.(811-813)ACA>ATA	p.T271I	HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Missense_Mutation_p.T138I|HNRNPL_uc010xun.1_5'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	271					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ATTCAAGCGTGTAGGCTGCAA	0.488													A	39334550	G	A	39334550	3	1	273	1	0	0	0	0	1	0	0	0	7270	1377	48	4	989	4	HNRNPL	19	39334550	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	265962	39334550	19794433	1722	139019											
ZFP36	7538	broad.mit.edu	37	chr19	39898949	39898949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctggccgccggacctcAccaccaccaccaggcctggc	9	22	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:39898949A>G	uc002olh.1	+	2	649	c.591A>G	c.(589-591)TCA>TCG	p.S197S	ZFP36_uc010egn.1_Missense_Mutation_p.H70R	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	197					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			pancreas(1)	1	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)			GCCGGACCTCACCACCACCAC	0.687													G	39898949	A	G	39898949	2	3	273	1	0	0	0	0	0	0	0	1	17642	146	6	3		3	ZFP36	19	39898949	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	564399	39898949	19230034	1723	139020											
DYRK1B	9149	broad.mit.edu	37	chr19	40319090	40319090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgtgcagagctgctgCgccagcttccgggtcaggtt	15	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:40319090C>T	uc002omj.2	-	6	934	c.654G>A	c.(652-654)GCG>GCA	p.A218A	DYRK1B_uc002omi.2_Silent_p.A218A|DYRK1B_uc002omk.2_Silent_p.A218A	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	218	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			AGAGCTGCTGCGCCAGCTTCC	0.597													T	40319090	C	T	40319090	2	4	273	1	0	0	0	0	0	0	0	1	4855	755	27	1		1	DYRK1B	19	40319090	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	420141	40319090	18809893	1724	139021											
FCGBP	8857	broad.mit.edu	37	chr19	40364151	40364151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatggggcccacaggctgCgccctcctggcaggtgacat	13	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:40364151C>T	uc002omp.3	-	31	14499	c.14491G>A	c.(14491-14493)GCA>ACA	p.A4831T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4831						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	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)			CCACAGGCTGCGCCCTCCTGG	0.672													T	40364151	C	T	40364151	3	4	273	1	0	0	0	0	1	0	0	0	5778	768	27	1	1750	1	FCGBP	19	40364151	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	45061	40364151	18764832	1725	139022											
SPTBN4	57731	broad.mit.edu	37	chr19	41008833	41008833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagaaccagcgtctggTctcccaggtacaaggtgtag	13	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:41008833T>C	uc002ony.2	+	11	1441	c.1355T>C	c.(1354-1356)GTC>GCC	p.V452A	SPTBN4_uc002onx.2_Missense_Mutation_p.V452A|SPTBN4_uc002onz.2_Missense_Mutation_p.V452A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	452	Spectrin 3.				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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCGTCTGGTCTCCCAGGTA	0.577													C	41008833	T	C	41008833	3	2	273	1	0	0	0	0	1	0	0	0	15120	1667	58	3	1393	3	SPTBN4	19	41008833	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	644682	41008833	18120150	1726	139023											
ADCK4	79934	broad.mit.edu	37	chr19	41220300	41220300	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagaacctccacatggTccctgcaagagatatacttt	7	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:41220300T>A	uc002oor.2	-	3	407	c.105A>T	c.(103-105)GGA>GGT	p.G35G	ADCK4_uc002ooq.1_Silent_p.G35G|ADCK4_uc002oos.2_Silent_p.G35G|ITPKC_uc002oot.2_5'Flank	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	35						integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CTCCACATGGTCCCTGCAAGA	0.587													A	41220300	T	A	41220300	2	1	273	1	0	0	0	0	0	0	0	1	290	1654	58	5		5	ADCK4	19	41220300	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	211467	41220300	17908683	1727	139024											
CEACAM5	1048	broad.mit.edu	37	chr19	42224958	42224958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtattcttggcgtatcAatgggataccgcagcaacac	10	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:42224958A>G	uc002ork.2	+	8	2009	c.1888A>G	c.(1888-1890)AAT>GAT	p.N630D	CEACAM5_uc002orj.1_Missense_Mutation_p.N629D|CEACAM5_uc002orl.2_Missense_Mutation_p.N630D	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	630	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTGGCGTATCAATGGGATACC	0.507													G	42224958	A	G	42224958	3	3	273	1	0	0	0	0	1	0	0	0	3195	130	5	3	1918	3	CEACAM5	19	42224958	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1004658	42224958	16904025	1728	139025											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796884	+	Frame_Shift_Ins	INS	-	-	C													ctggcccagccatcccaggcINSccccccaagcctggtctaca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:42796882_42796883G>GC	uc002otf.1	+	13	3380_3381	c.3340_3341G>GC	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		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)				GCCATCCCAGGCCCCCCCAAGC	0.683			"Mis, F, S"		oligodendroglioma								C	42796884	-	C	42796883	7	5	273	1	0	1	1	0	0	0	0	0	3424	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	571925	42796883	16332100	1729	139026											
PSG3	5671	broad.mit.edu	37	chr19	43237181	43237181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctccctggggtataagTtgctgctggagatggagggc	16	8	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:43237181T>C	uc002oue.2	-	3	596	c.464A>G	c.(463-465)AAC>AGC	p.N155S	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.N177S	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	155	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GGGGTATAAGTTGCTGCTGGA	0.527													C	43237181	T	C	43237181	3	2	273	1	0	0	0	0	1	0	0	0	12656	1725	60	3	838	3	PSG3	19	43237181	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	440298	43237181	15891802	1730	139027											
PSG3	5671	broad.mit.edu	37	chr19	43243059	43243059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattatttgaccatctactaCgtatgatgtaatgtaatggt	7	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:43243059C>T	uc002oue.2	-	2	379	c.247G>A	c.(247-249)GTA>ATA	p.V83I	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.V105I	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	83	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CCATCTACTACGTATGATGTA	0.443													T	43243059	C	T	43243059	3	4	273	1	0	0	0	0	1	0	0	0	12656	536	19	1	1059	1	PSG3	19	43243059	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5878	43243059	15885924	1731	139028											
PSG6	5675	broad.mit.edu	37	chr19	43529018	43529018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatatataattatttgaccGtctactacatatgatgtaat	4	7	1	2	rs138426313		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:43529018G>A	uc002ovh.1	-	2	362	c.273C>T	c.(271-273)GAC>GAT	p.D91D	PSG11_uc002ouw.2_Silent_p.D91D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.D91D|PSG11_uc002ovm.1_Silent_p.D85D|PSG11_uc002ovn.1_Silent_p.D91D|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				TTATTTGACCGTCTACTACAT	0.443													A	43529018	G	A	43529018	2	1	273	1	0	0	0	0	0	0	0	1	12659	1136	40	1		1	PSG6	19	43529018	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	285959	43529018	15599965	1732	139029											
ZNF230	7773	broad.mit.edu	37	chr19	44515243	44515243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagatggtcctcatatcTtttgatccatcagcgaatcc	6	12	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:44515243T>C	uc002oyb.1	+	5	1303	c.1052T>C	c.(1051-1053)CTT>CCT	p.L351P		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	351	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TCCTCATATCTTTTGATCCAT	0.428													C	44515243	T	C	44515243	3	2	273	1	0	0	0	0	1	0	0	0	17781	1609	56	3	1066	3	ZNF230	19	44515243	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	986225	44515243	14613740	1733	139030											
ZNF180	7733	broad.mit.edu	37	chr19	45001352	45001352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgtgcacaggccttcGggggctctgggggcttctca	14	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:45001352G>A	uc002ozf.3	-	2	398	c.116C>T	c.(115-117)CCG>CTG	p.P39L	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Missense_Mutation_p.P12L|ZNF180_uc002ozg.3_Missense_Mutation_p.P38L|ZNF180_uc010ejm.2_Missense_Mutation_p.P39L	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ACAGGCCTTCGGGGGCTCTGG	0.617													A	45001352	G	A	45001352	3	1	273	1	0	0	0	0	1	0	0	0	17745	1116	39	1	1978	1	ZNF180	19	45001352	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	486109	45001352	14127631	1734	139031											
NKPD1	284353	broad.mit.edu	37	chr19	45655872	45655872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtactcgtagaggcagtcgCgctcgtcgtgaaggcagaag	15	10	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:45655872C>T	uc010xxi.1	-	4	1823	c.1823G>A	c.(1822-1824)CGC>CAC	p.R608H		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GAGGCAGTCGCGCTCGTCGTG	0.701													T	45655872	C	T	45655872	3	4	273	1	0	0	0	0	1	0	0	0	10446	768	27	1	679	1	NKPD1	19	45655872	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	654520	45655872	13473111	1735	139032											
KLC3	147700	broad.mit.edu	37	chr19	45848996	45848996	+	Frame_Shift_Del	DEL	A	A	-													cggcttggagatgctggaggAaaagcagcaggtggtgagcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:45848996delA	uc002pbf.1	+	2	312	c.197delA	c.(196-198)GAAfs	p.E66fs	KLC3_uc002pbe.2_Frame_Shift_Del_p.E66fs|KLC3_uc010ejy.1_Frame_Shift_Del_p.E66fs|KLC3_uc002pbg.1_Frame_Shift_Del_p.E80fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	66						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGCTGGAGGAAAAGCAGCAG	0.721													-	45848996	A	-	45848996	7	5	273	1	0	1	0	1	0	0	0	0	8335	246	9	0	199	0	KLC3	19	45848996	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	193124	45848996	13279987	1736	139033											
EML2	24139	broad.mit.edu	37	chr19	46122427	46122427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggggtgtgtggccaggCcccacagctcttccacatgg	14	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:46122427C>T	uc002pcn.2	-	12	1180	c.1145G>A	c.(1144-1146)GGC>GAC	p.G382D	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.G266D|EML2_uc010xxl.1_Missense_Mutation_p.G529D|EML2_uc010xxm.1_Missense_Mutation_p.G583D|EML2_uc010xxn.1_RNA	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	382	WD 6.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		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)		TGTGGCCAGGCCCCACAGCTC	0.602													T	46122427	C	T	46122427	3	4	273	1	0	0	0	0	1	0	0	0	5097	739	26	2	836	2	EML2	19	46122427	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	273431	46122427	13006556	1737	139034											
SIX5	147912	broad.mit.edu	37	chr19	46271470	46271470	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttgagcgctgcgcgggaGcgctccttgaagcagtagac	15	12	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:46271470G>T	uc002pdb.2	-	1	1028	c.633C>A	c.(631-633)CGC>CGA	p.R211R	SIX5_uc002pdc.2_Silent_p.R211R	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	211	Homeobox.					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		CTGCGCGGGAGCGCTCCTTGA	0.672													T	46271470	G	T	46271470	2	4	273	1	0	0	0	0	0	0	0	1	14350	958	34	5		5	SIX5	19	46271470	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	149043	46271470	12857513	1738	139035											
DMPK	1760	broad.mit.edu	37	chr19	46274622	46274628	+	Frame_Shift_Del	DEL	CCGTGGC	CCGTGGC	-													tcttacatgggaaggtggatCcgtggcccggggactgggga					rs146680240	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:46274621_46274627TCCGTGGC>T	uc002pdi.1	-	13	1892_1898	c.1706_1712GCCACGGA>A	c.(1705-1713)gccacggatfs	p.A569fs	SIX5_uc002pdb.3_5'Flank|DMPK_uc021uwb.1_Intron|DMPK_uc010xxs.1_Frame_Shift_Del_p.A454fs|DMPK_uc002pdd.1_Frame_Shift_Del_p.A553fs|DMPK_uc002pde.1_Frame_Shift_Del_p.A548fs|DMPK_uc002pdg.1_Frame_Shift_Del_p.A538fs|DMPK_uc002pdf.1_Frame_Shift_Del_p.A543fs|DMPK_uc002pdh.1_Frame_Shift_Del_p.A538fs|DMPK_uc010xxt.1_Intron	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	553					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T544M(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGAAGGTGGATCCGTGGCCCGGGGACT	0.657													-	46274628	CCGTGGC	-	46274622	7	5	273	1	0	1	0	1	0	0	0	0	4584	855	30	0	275	0	DMPK	19	46274622	Frame_Shift_Del	DEL	CCGTGGC	TCGA-HU-A4GT-01A-21D-A25D-08	3152	46274622	12854361	1739	139036											
PRKD2	25865	broad.mit.edu	37	chr19	47201084	47201084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgattgcaccaccctcAttagggggatgtaccccagg	11	14	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47201084A>G	uc002pfh.2	-	9	1487	c.1145T>C	c.(1144-1146)ATG>ACG	p.M382T	PRKD2_uc002pfe.2_5'Flank|PRKD2_uc002pff.2_5'Flank|PRKD2_uc002pfg.2_Missense_Mutation_p.M225T|PRKD2_uc002pfi.2_Missense_Mutation_p.M382T|PRKD2_uc002pfj.2_Missense_Mutation_p.M382T|PRKD2_uc010xye.1_Missense_Mutation_p.M382T|PRKD2_uc002pfk.2_Missense_Mutation_p.M225T	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	382					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			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		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)		CACCACCCTCATTAGGGGGAT	0.577													G	47201084	A	G	47201084	3	3	273	1	0	0	0	0	1	0	0	0	12519	217	8	3	1535	3	PRKD2	19	47201084	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	926462	47201084	11927899	1740	139037											
STRN4	29888	broad.mit.edu	37	chr19	47228899	47228899	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttaaaagcatctttgctgtCagacagctggggttgggggg	15	7	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47228899C>T	uc002pfl.2	-	10	1288	c.1255G>A	c.(1255-1257)GAC>AAC	p.D419N	STRN4_uc002pfm.2_Missense_Mutation_p.D426N|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	419						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		TCTTTGCTGTCAGACAGCTGG	0.602													T	47228899	C	T	47228899	3	4	273	1	0	0	0	0	1	0	0	0	15330	826	29	4	1038	4	STRN4	19	47228899	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	27815	47228899	11900084	1741	139038											
FKRP	79147	broad.mit.edu	37	chr19	47260136	47260136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaagttcgggcccgggGtcatcgagaacccccagtac	12	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47260136G>A	uc002pfn.2	+	4	1726	c.1429G>A	c.(1429-1431)GTC>ATC	p.V477I	FKRP_uc002pfp.2_Missense_Mutation_p.V477I	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	477						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGGGCCCGGGGTCATCGAGAA	0.642													A	47260136	G	A	47260136	3	1	273	1	0	0	0	0	1	0	0	0	5917	1261	44	4	1431	4	FKRP	19	47260136	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	31237	47260136	11868847	1742	139039											
SLC1A5	6510	broad.mit.edu	37	chr19	47280536	47280536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgaacactgcggccacGcactggaagagcgcggcacc	13	14	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47280536G>A	uc002pfs.2	-	6	1805	c.1185C>T	c.(1183-1185)TGC>TGT	p.C395C	SLC1A5_uc010xyh.1_Silent_p.C193C|SLC1A5_uc002pfq.2_Silent_p.C219C|SLC1A5_uc002pfr.2_Silent_p.C167C	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	395	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTGCGGCCACGCACTGGAAGA	0.602													A	47280536	G	A	47280536	2	1	273	1	0	0	0	0	0	0	0	1	14435	1079	38	1		1	SLC1A5	19	47280536	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	20400	47280536	11848447	1743	139040											
NPAS1	4861	broad.mit.edu	37	chr19	47548495	47548495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgccccagcggagaaCgaggccccccagacccaggg	14	17	0	2	rs147026903		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47548495C>T	uc002pfw.2	+	12	1555	c.1359C>T	c.(1357-1359)AAC>AAT	p.N453N	NPAS1_uc002pfx.2_Silent_p.N278N|NPAS1_uc002pfy.2_Silent_p.N453N|NPAS1_uc010xyj.1_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	453					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		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)		CAGCGGAGAACGAGGCCCCCC	0.662													T	47548495	C	T	47548495	2	4	273	1	0	0	0	0	0	0	0	1	10562	535	19	1		1	NPAS1	19	47548495	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	267959	47548495	11580488	1744	139041											
DHX34	9704	broad.mit.edu	37	chr19	47856680	47856680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccgcggagagagtggcTgagttccgccgagccctgtt	15	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47856680T>C	uc010xyn.1	+	2	734	c.393T>C	c.(391-393)GCT>GCC	p.A131A	DHX34_uc010elc.1_Silent_p.A131A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	131						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGAGAGTGGCTGAGTTCCGCC	0.647													C	47856680	T	C	47856680	2	2	273	1	0	0	0	0	0	0	0	1	4507	1567	55	3		3	DHX34	19	47856680	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	308185	47856680	11272303	1745	139042											
LIG1	3978	broad.mit.edu	37	chr19	48657203	48657203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacttcctgaatggtcCgtttcgggagctgcttccga	12	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:48657203C>T	uc002pia.1	-	6	512	c.392G>A	c.(391-393)CGG>CAG	p.R131Q	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.R101Q|LIG1_uc010xzh.1_Intron	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	131					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			large_intestine(2)|lung(1)	3		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)	CTGAATGGTCCGTTTCGGGAG	0.358								NER					T	48657203	C	T	48657203	3	4	273	1	0	0	0	0	1	0	0	0	8781	652	23	1	2459	1	LIG1	19	48657203	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	800523	48657203	10471780	1746	139043											
DBP	1628	broad.mit.edu	37	chr19	49140174	49140174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcaacccaagcagcgcTcccccgccagggggtgtccc	11	20	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49140174T>C	uc002pjx.3	-	1	466	c.78A>G	c.(76-78)GGA>GGG	p.G26G	SEC1_uc010xzv.1_5'Flank|SEC1_uc002pka.2_5'Flank|SEC1_uc010xzw.1_5'Flank|SEC1_uc010ema.2_5'Flank|DBP_uc002pjy.2_Silent_p.G26G|DBP_uc010elz.1_Silent_p.G26G	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	26					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				0		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)		CAAGCAGCGCTCCCCCGCCAG	0.711													C	49140174	T	C	49140174	2	2	273	1	0	0	0	0	0	0	0	1	4256	1538	54	3		3	DBP	19	49140174	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	482971	49140174	9988809	1747	139044											
GYS1	2997	broad.mit.edu	37	chr19	49472668	49472668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggaggaggtgcaggaCgctcggcgcggccactctgg	19	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49472668C>T	uc002plp.2	-	16	2332	c.2091G>A	c.(2089-2091)GCG>GCA	p.A697A	GYS1_uc010xzy.1_Silent_p.A330A|GYS1_uc010emm.2_Silent_p.A633A|GYS1_uc010xzz.1_Silent_p.A617A	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	697					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		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)		AGGTGCAGGACGCTCGGCGCG	0.697													T	49472668	C	T	49472668	2	4	273	1	0	0	0	0	0	0	0	1	6912	523	19	1		1	GYS1	19	49472668	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	332494	49472668	9656315	1748	139045											
RUVBL2	10856	broad.mit.edu	37	chr19	49510567	49510567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctggctagggaggagaCggagatcatcgaaggggagg	18	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49510567C>T	uc002plr.1	+	6	417	c.404C>T	c.(403-405)ACG>ATG	p.T135M	RUVBL2_uc002plq.1_Missense_Mutation_p.T90M|RUVBL2_uc010yab.1_Missense_Mutation_p.T135M|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.T90M|RUVBL2_uc010yac.1_Missense_Mutation_p.T90M	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	135					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGGGAGGAGACGGAGATCATC	0.587													T	49510567	C	T	49510567	3	4	273	1	0	0	0	0	1	0	0	0	13753	536	19	1	426	1	RUVBL2	19	49510567	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	37899	49510567	9618416	1749	139046											
RPL13A	23521	broad.mit.edu	37	chr19	49994304	49994304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctctaacagaaaaagcGgatggtggttcctgctgccc	10	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49994304G>A	uc002pny.2	+	6	372	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	RPL13A_uc002pnz.2_Missense_Mutation_p.R56Q|RPL13A_uc002poa.2_Missense_Mutation_p.R107Q|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		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)		CAGAAAAAGCGGATGGTGGTT	0.562													A	49994304	G	A	49994304	3	1	273	1	0	0	0	0	1	0	0	0	13560	1116	39	1	372	1	RPL13A	19	49994304	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	483737	49994304	9134679	1750	139047											
PRR12	57479	broad.mit.edu	37	chr19	50099557	50099557	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccagccctcctcggacCtcaggggcggacggcttggt	15	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50099557C>A	uc002poo.3	+	4	1965	c.1965C>A	c.(1963-1965)ACC>ACA	p.T655T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCCTCGGACCTCAGGGGCGG	0.706													A	50099557	C	A	50099557	2	1	273	1	0	0	0	0	0	0	0	1	12584	668	24	5		5	PRR12	19	50099557	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	105253	50099557	9029426	1751	139048											
PRR12	57479	broad.mit.edu	37	chr19	50102912	50102912	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgcagagagtgagggTctggggcttggctgcccttc	18	9	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50102912T>C	uc002poo.3	+	5	4062	c.4062T>C	c.(4060-4062)GGT>GGC	p.G1354G		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	533	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGAGTGAGGGTCTGGGGCTTG	0.667													C	50102912	T	C	50102912	2	2	273	1	0	0	0	0	0	0	0	1	12584	1654	58	3		3	PRR12	19	50102912	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3355	50102912	9026071	1752	139049											
PRMT1	3276	broad.mit.edu	37	chr19	50191500	50191500	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgactaccggatgcgcTgaggcccggctctcccgccc	11	20	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50191500T>C	uc010enf.1	+	11	1156	c.1114T>C	c.(1114-1116)TGA>CGA	p.*372R	CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Nonstop_Mutation_p.*348R|PRMT1_uc002ppe.2_Nonstop_Mutation_p.*354R|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Nonstop_Mutation_p.*319R|PRMT1_uc010ybb.1_RNA|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	372						cytoplasm	protein methyltransferase activity			ovary(1)	1		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCGGATGCGCTGAGGCCCGGC	0.687													C	50191500	T	C	50191500	4	2	273	1	0	0	0	0	0	0	0	0	12535	1593	55	3	1156	3	PRMT1	19	50191500	Nonstop_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	88588	50191500	8937483	1753	139050											
MED25	81857	broad.mit.edu	37	chr19	50333995	50333996	+	Frame_Shift_Ins	INS	-	-	C													agctgctcccggagtgggtcINScccccttcagccaggcccca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50333994_50333995T>TC	uc002ppw.2	+	8	1014_1015	c.951_952T>TC	c.(949-954)ggtcccfs	p.G317fs	MED25_uc010ybe.2_Frame_Shift_Ins_p.G104fs|MED25_uc002ppx.1_Frame_Shift_Ins_p.G98fs	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	317	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)		CCGGAGTGGGTCCCCCCTTCAG	0.658													C	50333996	-	C	50333995	7	5	273	1	0	1	1	0	0	0	0	0	9443	855	30	0	986	0	MED25	19	50333995	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	142495	50333995	8794988	1754	139051											
PTOV1	53635	broad.mit.edu	37	chr19	50363527	50363528	+	Frame_Shift_Ins	INS	-	-	G													ctgatttctcgccgtagatgINSggggggtagtggttaccccg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50363526_50363527T>TG	uc002pqf.1	+	11	1411_1412	c.1241_1242T>TG	c.(1240-1242)atgfs	p.M414fs	PTOV1_uc002pqb.4_Frame_Shift_Ins_p.W359fs|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		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;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCGCCGTAGATGGGGGGGTAGT	0.658													G	50363528	-	G	50363527	7	5	273	1	0	1	1	0	0	0	0	0	12769	1348	47	0	1288	0	PTOV1	19	50363527	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	29532	50363527	8765456	1755	139052											
ZNF473	25888	broad.mit.edu	37	chr19	50542460	50542460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcatggacttcaccttgGgagactgggagcagctcggg	16	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50542460G>A	uc002prn.2	+	3	289	c.52G>A	c.(52-54)GGA>AGA	p.G18R	ZNF473_uc002prm.2_Missense_Mutation_p.G18R|ZNF473_uc010ybo.1_Missense_Mutation_p.G6R	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	18	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CTTCACCTTGGGAGACTGGGA	0.572													A	50542460	G	A	50542460	3	1	273	1	0	0	0	0	1	0	0	0	17928	1233	43	4	58	4	ZNF473	19	50542460	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	178933	50542460	8586523	1756	139053											
POLD1	5424	broad.mit.edu	37	chr19	50905899	50905899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagctggaggcggacgtgCtgtggtctgacgtggtcagt	18	9	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50905899C>A	uc002psb.3	+	8	927	c.871C>A	c.(871-873)CTG>ATG	p.L291M	POLD1_uc002psc.3_Missense_Mutation_p.L291M|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.L291M	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	291					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			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCGGACGTGCTGTGGTCTGA	0.682								DNA_polymerases_(catalytic_subunits)					A	50905899	C	A	50905899	3	1	273	1	0	0	0	0	1	0	0	0	12190	796	28	5	897	5	POLD1	19	50905899	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	363439	50905899	8223084	1757	139054											
SHANK1	50944	broad.mit.edu	37	chr19	51172384	51172384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgaggggagggggtgaGgcgccctgaggaggagggga	23	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:51172384G>T	uc002psx.1	-	22	2852	c.2833C>A	c.(2833-2835)CTC>ATC	p.L945I	SHANK1_uc002psw.1_Missense_Mutation_p.L329I	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	945					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGGGGTGAGGCGCCCTGAG	0.711													T	51172384	G	T	51172384	3	4	273	1	0	0	0	0	1	0	0	0	14264	1000	35	5	3660	5	SHANK1	19	51172384	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	266485	51172384	7956599	1758	139055											
SHANK1	50944	broad.mit.edu	37	chr19	51215284	51215284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagctcgcagcatcgggGgtcaccacccaccatggccg	13	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:51215284G>A	uc002psx.1	-	6	899	c.880C>T	c.(880-882)CCC>TCC	p.P294S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	294	ANK 3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGCATCGGGGGTCACCACCC	0.627													A	51215284	G	A	51215284	3	1	273	1	0	0	0	0	1	0	0	0	14264	1232	43	4	5677	4	SHANK1	19	51215284	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	42900	51215284	7913699	1759	139056											
LIM2	3982	broad.mit.edu	37	chr19	51890512	51890512	+	Frame_Shift_Del	DEL	G	G	-													gcgcggcctggaccctggccGgggggctcaccgatgctgtc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:51890511_51890511CG>C	uc002pwl.2	-	1	231	c.187_187CG>G	c.(187-189)ggcfs	p.G63fs	LIM2_uc002pwm.2_Intron	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.P62H(1)		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)		GGACCCTGGCCGGGGGGCTCA	0.652													-	51890512	G	-	51890512	7	5	273	1	0	1	0	1	0	0	0	0	8795	1103	39	0	477	0	LIM2	19	51890512	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	675228	51890512	7238471	1760	139057											
ZNF613	79898	broad.mit.edu	37	chr19	52448330	52448330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaattcatactggagaaaaAccctatatatgcaatgaatg	7	7	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:52448330A>C	uc002pxz.1	+	6	1617	c.1194A>C	c.(1192-1194)AAA>AAC	p.K398N	ZNF613_uc002pya.1_Missense_Mutation_p.K362N	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTGGAGAAAAACCCTATATAT	0.413													C	52448330	A	C	52448330	3	2	273	1	0	0	0	0	1	0	0	0	18035	40	2	5	1208	5	ZNF613	19	52448330	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	557818	52448330	6680653	1761	139058											
ZNF615	284370	broad.mit.edu	37	chr19	52497205	52497205	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcctttcccacatttaTtgcatataaagggtttctca	6	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:52497205T>G	uc002pye.1	-	6	1416	c.1124A>C	c.(1123-1125)AAT>ACT	p.N375T	ZNF615_uc002pyf.1_Missense_Mutation_p.N386T|ZNF615_uc002pyg.1_Missense_Mutation_p.N267T|ZNF615_uc002pyh.1_Missense_Mutation_p.N386T|ZNF615_uc010epi.1_Missense_Mutation_p.N382T|ZNF615_uc010ydg.1_Missense_Mutation_p.N380T	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	375	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCCACATTTATTGCATATAAA	0.383													G	52497205	T	G	52497205	3	3	273	1	0	0	0	0	1	0	0	0	18037	1493	52	5	1075	5	ZNF615	19	52497205	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	48875	52497205	6631778	1762	139059											
LENG1	79165	broad.mit.edu	37	chr19	54660653	54660654	+	Frame_Shift_Ins	INS	-	-	G													catctggggctgggccgggcINSggggggccccctcgccctgg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54660653_54660654insG	uc002qdm.2	-	3	435_436	c.422_423insC	c.(421-423)CCGfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	141										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCCC	0.639													G	54660654	-	G	54660653	7	5	273	1	0	1	1	0	0	0	0	0	8723	755	27	0	379	0	LENG1	19	54660653	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2163448	54660653	4468330	1763	139060	744	2									
LENG1	79165	broad.mit.edu	37	chr19	54660654	54660655	+	Frame_Shift_Ins	INS	-	-	G													atctggggctgggccgggcgINSgggggccccctcgccctggg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54660653_54660654C>CG	uc002qdm.3	-	2	435_436	c.422_423G>CG	c.(421-423)ccgfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	141										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCCC	0.639													G	54660655	-	G	54660654	7	5	273	1	0	1	1	0	0	0	0	0	8723	1116	39	0	380	0	LENG1	19	54660654	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	54660654	4468329	1764	139061	744	2									
RPS9	6203	broad.mit.edu	37	chr19	54711410	54711410	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaagaagggccagggtggGgctggggctggagacgacga	21	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54711410G>T	uc002qdx.2	+	5	608	c.552G>T	c.(550-552)GGG>GGT	p.G184G	RPS9_uc002qdy.2_3'UTR|RPS9_uc002qdz.2_Silent_p.G184G|RPS9_uc002qea.2_Silent_p.G184G|RPS9_uc002qeb.2_3'UTR|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_3'UTR	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	184					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	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;0.18)		GCCAGGGTGGGGCTGGGGCTG	0.602													T	54711410	G	T	54711410	2	4	273	1	0	0	0	0	0	0	0	1	13662	1219	43	5		5	RPS9	19	54711410	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	50756	54711410	4417573	1765	139062											
LILRB3	11025	broad.mit.edu	37	chr19	54746018	54746018	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggatggagaatctggccTtgttcttgggttccagtggg	16	6	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54746018T>G	uc010erh.1	-	3	363	c.239A>C	c.(238-240)AAG>ACG	p.K80T	LILRA6_uc002qew.1_Missense_Mutation_p.K80T|LILRB3_uc002qeh.1_Missense_Mutation_p.K80T|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.K80T|LILRA6_uc002qek.1_Missense_Mutation_p.K80T|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.K80T|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.K80T|LILRB3_uc002qep.1_Missense_Mutation_p.K80T|LILRB3_uc002qeq.1_Missense_Mutation_p.K80T|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.K80T|LILRA6_uc010yep.1_Missense_Mutation_p.K80T|LILRA6_uc010yeq.1_Missense_Mutation_p.K80T|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.K80T|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	80	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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)		GAATCTGGCCTTGTTCTTGGG	0.572													G	54746018	T	G	54746018	3	3	273	1	0	0	0	0	1	0	0	0	8792	1609	56	5		5	LILRB3	19	54746018	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	34608	54746018	4382965	1766	139063											
TTYH1	57348	broad.mit.edu	37	chr19	54930326	54930326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctggtggcggccttgGcgggcctgggcttgggcctg	20	10	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54930326G>A	uc002qfq.2	+	2	243	c.151G>A	c.(151-153)GCG>ACG	p.A51T	TTYH1_uc010yey.1_Missense_Mutation_p.A100T|TTYH1_uc002qfr.2_Missense_Mutation_p.A51T|TTYH1_uc002qft.2_Missense_Mutation_p.A51T|TTYH1_uc002qfu.1_5'Flank	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	51	Helical; Name=1; (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GGCGGCCTTGGCGGGCCTGGG	0.667													A	54930326	G	A	54930326	3	1	273	1	0	0	0	0	1	0	0	0	16736	1203	42	2	157	2	TTYH1	19	54930326	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	184308	54930326	4198657	1767	139064											
LAIR2	3904	broad.mit.edu	37	chr19	55020282	55020282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccccggacacagagccCggctcctcagctggtcagta	11	16	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:55020282C>T	uc002qgc.2	+	4	524	c.402C>T	c.(400-402)CCC>CCT	p.P134P	LAIR2_uc002qgd.2_Intron|LAIR2_uc010erl.2_Missense_Mutation_p.P103L	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like	134						extracellular region	receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACACAGAGCCCGGCTCCTCAG	0.632													T	55020282	C	T	55020282	2	4	273	1	0	0	0	0	0	0	0	1	8603	639	23	1		1	LAIR2	19	55020282	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	89956	55020282	4108701	1768	139065											
NLRP7	199713	broad.mit.edu	37	chr19	55447772	55447772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagacagaagtcccggtaCgcggtgtcaggggtgacgtt	16	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:55447772C>T	uc002qih.3	-	6	2233	c.2157G>A	c.(2155-2157)GCG>GCA	p.A719A	NLRP7_uc002qig.3_Silent_p.A691A|NLRP7_uc002qii.3_Silent_p.A719A|NLRP7_uc010esk.2_Silent_p.A719A|NLRP7_uc010esl.2_Silent_p.A747A	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	719							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGTCCCGGTACGCGGTGTCAG	0.493													T	55447772	C	T	55447772	2	4	273	1	0	0	0	0	0	0	0	1	10482	523	19	1		1	NLRP7	19	55447772	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	427490	55447772	3681211	1769	139066											
ZNF628	89887	broad.mit.edu	37	chr19	55992708	55992708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcattccggtggtcgtccCggctcctgcaccaccagcgc	11	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:55992708C>T	uc002qld.2	+	3	701	c.136C>T	c.(136-138)CGG>TGG	p.R46W		NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	46	C2H2-type 1.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGGTCGTCCCGGCTCCTGCA	0.687													T	55992708	C	T	55992708	3	4	273	1	0	0	0	0	1	0	0	0	18049	643	23	1	138	1	ZNF628	19	55992708	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	544936	55992708	3136275	1770	139067											
CCDC106	29903	broad.mit.edu	37	chr19	56163920	56163920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgtggcgctgaccacGcccatcgccgagctgctcat	10	17	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:56163920G>A	uc002qlr.2	+	6	1386	c.651G>A	c.(649-651)ACG>ACA	p.T217T	CCDC106_uc002qls.2_Silent_p.T217T|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	217						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGCTGACCACGCCCATCGCCG	0.662													A	56163920	G	A	56163920	2	1	273	1	0	0	0	0	0	0	0	1	2741	1074	38	1		1	CCDC106	19	56163920	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	171212	56163920	2965063	1771	139068											
U2AF2	11338	broad.mit.edu	37	chr19	56179935	56179935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgggggcttacccaacTacctgaacgatgaccaggta	10	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:56179935T>C	uc002qlu.2	+	8	1860	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	U2AF2_uc002qlt.2_Missense_Mutation_p.Y269H	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	269	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			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTTACCCAACTACCTGAACGA	0.602													C	56179935	T	C	56179935	3	2	273	1	0	0	0	0	1	0	0	0	16820	1522	53	3	835	3	U2AF2	19	56179935	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	16015	56179935	2949048	1772	139069											
NLRP9	338321	broad.mit.edu	37	chr19	56243791	56243791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggttatgcttccaatgGccgggttaggatcgtctttg	14	8	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:56243791G>A	uc002qly.2	-	2	1434	c.1406C>T	c.(1405-1407)GCC>GTC	p.A469V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	469						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCTTCCAATGGCCGGGTTAGG	0.468													A	56243791	G	A	56243791	3	1	273	1	0	0	0	0	1	0	0	0	10484	1203	42	2	1601	2	NLRP9	19	56243791	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	63856	56243791	2885192	1773	139070											
ZNF71	58491	broad.mit.edu	37	chr19	57133202	57133202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagcgggtgcacacgggcGagaagccctatgcctgcggg	16	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57133202G>A	uc002qnm.3	+	3	785	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACACGGGCGAGAAGCCCTA	0.622													A	57133202	G	A	57133202	3	1	273	1	0	0	0	0	1	0	0	0	18111	1059	37	1	549	1	ZNF71	19	57133202	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	889411	57133202	1995781	1774	139071											
ZNF835	90485	broad.mit.edu	37	chr19	57175364	57175364	+	Silent	SNP	G	G	A													tgctctataagcgaggacacGtggctgaaggcggccccgca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57175364G>A	uc010ygo.1	-	2	1269	c.1269C>T	c.(1267-1269)CAC>CAT	p.H423H	ZNF835_uc010ygn.1_Silent_p.H401H	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GCGAGGACACGTGGCTGAAGG	0.662													A	57175364	G	A	57175364	2	1	273	1	0	0	0	0	0	0	0	1	18183	1136	40	1		1	ZNF835	19	57175364	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	42162	57175364	1953619	1775	139072	745	2									
ZNF835	90485	broad.mit.edu	37	chr19	57175366	57175366	+	Missense_Mutation	SNP	G	G	T													ctctataagcgaggacacgtGgctgaaggcggccccgcatt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57175366G>T	uc010ygo.1	-	2	1267	c.1267C>A	c.(1267-1269)CAC>AAC	p.H423N	ZNF835_uc010ygn.1_Missense_Mutation_p.H401N	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GAGGACACGTGGCTGAAGGCG	0.662													T	57175366	G	T	57175366	3	4	273	1	0	0	0	0	1	0	0	0	18183	1348	47	5	414	5	ZNF835	19	57175366	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2	57175366	1953617	1776	139073	745	2									
ZIM2	23619	broad.mit.edu	37	chr19	57286338	57286338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggactcttgctgcctcAtgggctttgagatgttgaag	14	7	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57286338A>G	uc002qnr.2	-	11	1684	c.1302T>C	c.(1300-1302)CAT>CAC	p.H434H	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.H230H|ZIM2_uc010ygr.1_Silent_p.H230H|ZIM2_uc002qnq.2_Silent_p.H434H|ZIM2_uc010etp.2_Silent_p.H434H|ZIM2_uc010ygs.1_Silent_p.H434H	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	434	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TTGCTGCCTCATGGGCTTTGA	0.463													G	57286338	A	G	57286338	2	3	273	1	0	0	0	0	0	0	0	1	17681	214	8	3		3	ZIM2	19	57286338	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	110972	57286338	1842645	1777	139074											
PEG3	5178	broad.mit.edu	37	chr19	57328919	57328919	+	Frame_Shift_Del	DEL	T	T	-													atcccccgccggtgggttgaTtttttggcttcaggcatagt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57328918_57328918AT>A	uc002qnu.2	-	6	1243	c.892_892AT>T	c.(892-894)tcafs	p.S298fs	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.S269fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.S298fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.S174fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.S172fs|PEG3_uc010etr.2_Frame_Shift_Del_p.S298fs	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	298					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)		CGGTGGGTTGATTTTTTGGCT	0.468													-	57328919	T	-	57328919	7	5	273	1	0	1	0	1	0	0	0	0	11720	1490	52	0	3879	0	PEG3	19	57328919	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	42581	57328919	1800064	1778	139075											
USP29	57663	broad.mit.edu	37	chr19	57640239	57640240	+	Frame_Shift_Ins	INS	-	-	A													tgtggtccttagacattgtaINSaaaaaagacaaagtcacctg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57640238_57640239T>TA	uc002qny.3	+	3	551_552	c.195_196T>TA	c.(193-198)tgtaaafs	p.C65fs	USP29_uc021vci.1_Frame_Shift_Ins_p.C65fs	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	65					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.R68fs*7(1)		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)		TTAGACATTGTAAAAAAAGACA	0.327													A	57640240	-	A	57640239	7	5	273	1	0	1	1	0	0	0	0	0	17056	363	13	0	198	0	USP29	19	57640239	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	311320	57640239	1488744	1779	139076											
AURKC	6795	broad.mit.edu	37	chr19	57743435	57743435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgactttgaaatcgggCgtcccctgggcaaggggaaa	14	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57743435C>T	uc002qoe.2	+	3	328	c.139C>T	c.(139-141)CGT>TGT	p.R47C	AURKC_uc002qoc.2_Missense_Mutation_p.R28C|AURKC_uc002qod.2_Missense_Mutation_p.R13C|AURKC_uc010etv.2_Missense_Mutation_p.R44C	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	47	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		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)		TGAAATCGGGCGTCCCCTGGG	0.542													T	57743435	C	T	57743435	3	4	273	1	0	0	0	0	1	0	0	0	1224	768	27	1	154	1	AURKC	19	57743435	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	103196	57743435	1385548	1780	139077											
ZNF460	10794	broad.mit.edu	37	chr19	57803526	57803526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcagtgaatatggaaacGccttcaattgccgctcattc	9	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57803526G>A	uc002qog.2	+	3	1939	c.1617G>A	c.(1615-1617)ACG>ACA	p.T539T	ZNF460_uc010ygv.1_Silent_p.T498T	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATATGGAAACGCCTTCAATTG	0.463													A	57803526	G	A	57803526	2	1	273	1	0	0	0	0	0	0	0	1	17921	1074	38	1		1	ZNF460	19	57803526	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	60091	57803526	1325457	1781	139078											
ZNF329	79673	broad.mit.edu	37	chr19	58640438	58640439	+	Frame_Shift_Del	DEL	TC	TC	-													ttcagggtatttgtagggctTctctctcactggatttcttc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:58640438_58640439delTC	uc002qrn.2	-	4	669_670	c.432_433delGA	c.(430-435)GAGAAGfs	p.E144fs	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	144_145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		TTGTAGGGCTTCTCTCTCACTG	0.376													-	58640439	TC	-	58640438	7	5	273	1	0	1	0	1	0	0	0	0	17844	1792	62	0	1196	0	ZNF329	19	58640438	Frame_Shift_Del	DEL	TC	TCGA-HU-A4GT-01A-21D-A25D-08	836912	58640438	488545	1782	139079											
PTPRA	5786	broad.mit.edu	37	chr20	2967446	2967446	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggtgatggtggccctgTcctctctgctagtgatcgtg	14	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:2967446T>A	uc010zqb.1	+	6	844	c.451T>A	c.(451-453)TCC>ACC	p.S151T	PTPRA_uc002whj.2_Missense_Mutation_p.S160T|PTPRA_uc010zqc.1_Missense_Mutation_p.S45T|PTPRA_uc002whk.2_Missense_Mutation_p.S151T|PTPRA_uc010zqd.1_Missense_Mutation_p.S171T|PTPRA_uc002whl.2_Missense_Mutation_p.S151T|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.S151T|PTPRA_uc002who.2_5'UTR			P18433	PTPRA_HUMAN	SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);	151	Helical; (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GGTGGCCCTGTCCTCTCTGCT	0.408													A	2967446	T	A	2967446	3	1	273	1	0	0	0	0	1	0	0	0	12795	1667	58	5	492	5	PTPRA	20	2967446	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08		2967446	60058074	1783	139080											
FASTKD5	60493	broad.mit.edu	37	chr20	3127717	3127718	+	Frame_Shift_Ins	INS	-	-	C													tgctacattgcaaaggaagcINScccccagaggtacagctgcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3127716_3127717G>GC	uc021vzx.1	-	0	2000_2001	c.2000_2001C>GC	c.(1999-2001)ggcfs	p.G667fs	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Frame_Shift_Ins_p.G667fs	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	667					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						TGCAAAGGAAGCCCCCCAGAGG	0.55													C	3127718	-	C	3127717	7	5	273	1	0	1	1	0	0	0	0	0	5688	739	26	0	298	0	FASTKD5	20	3127717	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	160271	3127717	59897803	1784	139081											
SLC4A11	83959	broad.mit.edu	37	chr20	3211287	3211287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtcatcacagatgacaCgaatcactgcaggcaggggg	12	10	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3211287C>T	uc002wig.2	-	11	1385	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	SLC4A11_uc010zqe.1_Missense_Mutation_p.R473H|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R430H	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	446	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			ovary(1)	1						ACAGATGACACGAATCACTGC	0.582													T	3211287	C	T	3211287	3	4	273	1	0	0	0	0	1	0	0	0	14652	536	19	1	1374	1	SLC4A11	20	3211287	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	83570	3211287	59814233	1785	139082											
C20orf194	25943	broad.mit.edu	37	chr20	3240189	3240189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagggacttggcttgatggAggactgaattgctggtggaa	17	4	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3240189A>C	uc002wii.2	-	33	3043	c.2992T>G	c.(2992-2994)TCC>GCC	p.S998A	C20orf194_uc002wij.3_Missense_Mutation_p.S737A|C20orf194_uc002wik.2_Missense_Mutation_p.S672A	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	998											0						GGCTTGATGGAGGACTGAATT	0.537													C	3240189	A	C	3240189	3	2	273	1	0	0	0	0	1	0	0	0	2099	304	11	5	561	5	C20orf194	20	3240189	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	28902	3240189	59785331	1786	139083											
ATRN	8455	broad.mit.edu	37	chr20	3565434	3565434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaagatgccttcgcaaGcccctacaggaaatttctat	8	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3565434G>A	uc002wim.2	+	18	3181	c.3091G>A	c.(3091-3093)GCC>ACC	p.A1031T	ATRN_uc002wil.2_Missense_Mutation_p.A1031T	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1031	Extracellular (Potential).|PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GCCTTCGCAAGCCCCTACAGG	0.493													A	3565434	G	A	3565434	3	1	273	1	0	0	0	0	1	0	0	0	1206	971	34	2	3161	2	ATRN	20	3565434	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	325245	3565434	59460086	1787	139084											
C20orf27	54976	broad.mit.edu	37	chr20	3736176	3736176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggacaggtgcctcgcGgacatccttgctcagcctgt	14	13	1	0	rs149371540		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3736176G>A	uc002wji.1	-	4	470	c.241C>T	c.(241-243)CGC>TGC	p.R81C	C20orf27_uc002wjf.1_Missense_Mutation_p.R106C|C20orf27_uc002wjh.1_Missense_Mutation_p.R106C	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	81											0						GGTGCCTCGCGGACATCCTTG	0.622													A	3736176	G	A	3736176	3	1	273	1	0	0	0	0	1	0	0	0	2107	1116	39	1	295	1	C20orf27	20	3736176	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	170742	3736176	59289344	1788	139085											
CENPB	1059	broad.mit.edu	37	chr20	3766612	3766612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggctgctcctcccgagcGcgccaaccagtagtgctccc	12	18	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3766612G>A	uc002wjk.2	-	1	726	c.519C>T	c.(517-519)CGC>CGT	p.R173R	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	173					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CCTCCCGAGCGCGCCAACCAG	0.746													A	3766612	G	A	3766612	2	1	273	1	0	0	0	0	0	0	0	1	3227	1074	38	1		1	CENPB	20	3766612	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	30436	3766612	59258908	1789	139086											
TRMT6	51605	broad.mit.edu	37	chr20	5925451	5925451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatcctttgaatattacCtctcctttaatgcccttgtc	3	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:5925451C>A	uc002wmh.1	-	3	488	c.366G>T	c.(364-366)GAG>GAT	p.E122D	TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	122					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						TGAATATTACCTCTCCTTTAA	0.338													A	5925451	C	A	5925451	3	1	273	1	0	0	0	0	1	0	0	0	16565	695	24	5	1163	5	TRMT6	20	5925451	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2158839	5925451	57100069	1790	139087											
PLCB4	5332	broad.mit.edu	37	chr20	9401986	9401986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagataagaaaattggcaccTacgtagaggtggatatgtat	11	5	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:9401986T>C	uc002wnf.2	+	25	2297	c.2161T>C	c.(2161-2163)TAC>CAC	p.Y721H	PLCB4_uc010gbw.1_Missense_Mutation_p.Y721H|PLCB4_uc010gbx.2_Missense_Mutation_p.Y733H|PLCB4_uc002wne.2_Missense_Mutation_p.Y721H|PLCB4_uc002wnh.2_Missense_Mutation_p.Y568H	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	721	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AATTGGCACCTACGTAGAGGT	0.418													C	9401986	T	C	9401986	3	2	273	1	0	0	0	0	1	0	0	0	12030	1522	53	3	2291	3	PLCB4	20	9401986	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3476535	9401986	53623534	1791	139088											
ANKRD5	63926	broad.mit.edu	37	chr20	10026254	10026254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgcctacaatggagaCgtggggctgatttcgataaa	11	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:10026254C>T	uc002wno.2	+	6	1122	c.729C>T	c.(727-729)GAC>GAT	p.D243D	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.D243D|ANKRD5_uc010gbz.2_Silent_p.D54D	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	243	ANK 3.						calcium ion binding			ovary(1)|breast(1)	2						ACAATGGAGACGTGGGGCTGA	0.383													T	10026254	C	T	10026254	2	4	273	1	0	0	0	0	0	0	0	1	676	535	19	1		1	ANKRD5	20	10026254	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	624268	10026254	52999266	1792	139089											
SNRPB2	6629	broad.mit.edu	37	chr20	16712392	16712392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttatatcaacaatatgaaTgacaaaattaaaaaggaagg	6	3	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:16712392T>C	uc002wph.1	+	2	261	c.45T>C	c.(43-45)AAT>AAC	p.N15N	SNRPB2_uc002wpi.1_Silent_p.N15N	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	15	RRM 1.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						ACAATATGAATGACAAAATTA	0.284													C	16712392	T	C	16712392	2	2	273	1	0	0	0	0	0	0	0	1	14862	1461	51	3		3	SNRPB2	20	16712392	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6686138	16712392	46313128	1793	139090											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143317	18143317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atactcccgtgagcatctacGaggaaaagctgctgctcaag	10	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:18143317G>A	uc002wqj.2	+	7	2021	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K	CSRP2BP_uc002wqk.2_Missense_Mutation_p.E339K|CSRP2BP_uc010zru.1_Missense_Mutation_p.E338K	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	467					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GAGCATCTACGAGGAAAAGCT	0.517													A	18143317	G	A	18143317	3	1	273	1	0	0	0	0	1	0	0	0	3968	1059	37	1	1421	1	CSRP2BP	20	18143317	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1430925	18143317	44882203	1794	139091											
C20orf26	26074	broad.mit.edu	37	chr20	20278851	20278851	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaactagtaaccggcagtgcGaaaaatgggacttacttccg	11	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:20278851G>A	uc002wru.2	+	25	3319	c.3243G>A	c.(3241-3243)GCG>GCA	p.A1081A	C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	1081										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CCGGCAGTGCGAAAAATGGGA	0.428													A	20278851	G	A	20278851	2	1	273	1	0	0	0	0	0	0	0	1	2106	1045	37	1		1	C20orf26	20	20278851	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2135534	20278851	42746669	1795	139092											
PAX1	5075	broad.mit.edu	37	chr20	21689866	21689866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctatccccacagtcggccTccaccctctctgccgtgggc	8	20	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:21689866T>C	uc002wsj.2	+	4	1120	c.1066T>C	c.(1066-1068)TCC>CCC	p.S356P	PAX1_uc010zsl.1_Missense_Mutation_p.S356P|PAX1_uc010zsm.1_Missense_Mutation_p.S332P	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	356					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						ACAGTCGGCCTCCACCCTCTC	0.667													C	21689866	T	C	21689866	3	2	273	1	0	0	0	0	1	0	0	0	11478	1551	54	3	1080	3	PAX1	20	21689866	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1411015	21689866	41335654	1796	139093											
CD93	22918	broad.mit.edu	37	chr20	23064957	23064957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccaggagtaactgtctgCcgcattctggggcttcttct	10	12	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:23064957C>T	uc002wsv.2	-	1	2021	c.1873G>A	c.(1873-1875)GCA>ACA	p.A625T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	625	Cytoplasmic (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TAACTGTCTGCCGCATTCTGG	0.617													T	23064957	C	T	23064957	3	4	273	1	0	0	0	0	1	0	0	0	3047	739	26	2	93	2	CD93	20	23064957	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1375091	23064957	39960563	1797	139094											
GZF1	64412	broad.mit.edu	37	chr20	23350276	23350276	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagttcacccagctcaacgcCctccagcgccaccgccgcat	7	21	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:23350276C>A	uc010gdb.2	+	6	1857	c.1683C>A	c.(1681-1683)GCC>GCA	p.A561A	GZF1_uc002wsy.2_Silent_p.A561A|GZF1_uc010zsq.1_Silent_p.A85A|GZF1_uc010zsr.1_Silent_p.A70A|GZF1_uc002wsz.2_Silent_p.A561A	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	561	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGCTCAACGCCCTCCAGCGCC	0.632													A	23350276	C	A	23350276	2	1	273	1	0	0	0	0	0	0	0	1	6914	610	22	5		5	GZF1	20	23350276	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	285319	23350276	39675244	1798	139095											
PYGB	5834	broad.mit.edu	37	chr20	25259726	25259726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacgacacccaccccgccCtctccatccctgagctcatg	6	20	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25259726C>A	uc002wup.2	+	9	1142	c.1033C>A	c.(1033-1035)CTC>ATC	p.L345I		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	345					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CCACCCCGCCCTCTCCATCCC	0.617													A	25259726	C	A	25259726	3	1	273	1	0	0	0	0	1	0	0	0	12860	681	24	5	1067	5	PYGB	20	25259726	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1909450	25259726	37765794	1799	139096											
NINL	22981	broad.mit.edu	37	chr20	25457303	25457303	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctgcggcgaggcccgGctcctgccgcctcctcagac	12	19	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25457303G>C	uc002wux.1	-	17	2698	c.2624C>G	c.(2623-2625)GCC>GGC	p.A875G	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	875					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCGAGGCCCGGCTCCTGCCGC	0.731													C	25457303	G	C	25457303	3	2	273	1	0	0	0	0	1	0	0	0	10420	1203	42	5	1556	5	NINL	20	25457303	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	197577	25457303	37568217	1800	139097											
NINL	22981	broad.mit.edu	37	chr20	25457469	25457469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctgcttccagggaggGcccgtccactcgcttcccgc	10	18	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25457469G>A	uc002wux.1	-	17	2532	c.2458C>T	c.(2458-2460)CCC>TCC	p.P820S	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	820					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCCAGGGAGGGCCCGTCCACT	0.677													A	25457469	G	A	25457469	3	1	273	1	0	0	0	0	1	0	0	0	10420	1203	42	2	1722	2	NINL	20	25457469	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	166	25457469	37568051	1801	139098											
ZNF337	26152	broad.mit.edu	37	chr20	25657323	25657324	+	Frame_Shift_Ins	INS	-	-	T													agtttctgcctggaatgtgcINSttttttgtgtatgattacca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25657323_25657324insT	uc002wva.2	-	4	1122_1123	c.600_601insA	c.(598-603)AAAGCAfs	p.K200fs	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Ins_p.K168fs|ZNF337_uc002wvb.2_Frame_Shift_Ins_p.K200fs|ZNF337_uc002wvc.2_Frame_Shift_Ins_p.K200fs	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	200_201	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGGAATGTGCTTTTTTGTGTA	0.446													T	25657324	-	T	25657323	7	5	273	1	0	1	1	0	0	0	0	0	17850	797	28	0	1658	0	ZNF337	20	25657323	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	199854	25657323	37368197	1802	139099	746	2									
ZNF337	26152	broad.mit.edu	37	chr20	25657324	25657325	+	Frame_Shift_Ins	INS	-	-	T													gtttctgcctggaatgtgctINStttttgtgtatgattaccat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25657323_25657324C>CT	uc002wva.3	-	3	1122_1123	c.600_601G>AG	c.(598-603)aaagcafs	p.K200fs	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Ins_p.K168fs|ZNF337_uc002wvc.3_Frame_Shift_Ins_p.K200fs	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											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						CTGGAATGTGCTTTTTTGTGTA	0.446													T	25657325	-	T	25657324	7	5	273	1	0	1	1	0	0	0	0	0	17850	1606	56	0	1659	0	ZNF337	20	25657324	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	25657324	37368196	1803	139100	746	2									
TM9SF4	9777	broad.mit.edu	37	chr20	30745748	30745748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcagatccccgagcagcGgtggtacatgaaccgatttg	13	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:30745748G>A	uc002wxj.2	+	14	1716	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	TM9SF4_uc010zts.1_Missense_Mutation_p.R401Q|TM9SF4_uc002wxk.2_Missense_Mutation_p.R477Q|TM9SF4_uc010gdz.2_Missense_Mutation_p.R373Q	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	494						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCGAGCAGCGGTGGTACATG	0.617													A	30745748	G	A	30745748	3	1	273	1	0	0	0	0	1	0	0	0	15977	1116	39	1	1535	1	TM9SF4	20	30745748	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5088424	30745748	32279772	1804	139101											
DNMT3B	1789	broad.mit.edu	37	chr20	31387079	31387079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgtaccctgccattccCgcagcccgaaggcggcccat	10	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:31387079C>T	uc002wyc.2	+	16	2025	c.1704C>T	c.(1702-1704)CCC>CCT	p.P568P	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.P548P|DNMT3B_uc002wye.2_Silent_p.P548P|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.P506P|DNMT3B_uc010zua.1_Silent_p.P472P|DNMT3B_uc002wyf.2_Silent_p.P560P|DNMT3B_uc002wyg.2_Silent_p.P267P|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	568					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			lung(3)|ovary(2)	5						CTGCCATTCCCGCAGCCCGAA	0.587													T	31387079	C	T	31387079	2	4	273	1	0	0	0	0	0	0	0	1	4677	639	23	1		1	DNMT3B	20	31387079	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	641331	31387079	31638441	1805	139102											
C20orf71	128861	broad.mit.edu	37	chr20	31812171	31812171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgcagcatcaacatcAccaacattcagctggactgt	7	13	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:31812171A>G	uc002wyr.2	+	3	497	c.289A>G	c.(289-291)ACC>GCC	p.T97A	C20orf71_uc002wys.2_Intron	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	short long palate, lung and nasal epithelium	97						extracellular region	lipid binding			ovary(1)|skin(1)	2						CATCAACATCACCAACATTCA	0.483													G	31812171	A	G	31812171	3	3	273	1	0	0	0	0	1	0	0	0	2117	159	6	3	299	3	C20orf71	20	31812171	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	425092	31812171	31213349	1806	139103											
C20orf114	92747	broad.mit.edu	37	chr20	31891811	31891811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaaggtgaccaacttatActcaacttgaataacatcag	5	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:31891811A>G	uc002wyw.1	+	12	1349	c.1188A>G	c.(1186-1188)ATA>ATG	p.I396M	C20orf114_uc002wyx.1_RNA	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	396						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						ACCAACTTATACTCAACTTGA	0.433													G	31891811	A	G	31891811	3	3	273	1	0	0	0	0	1	0	0	0	2082	381	14	3	1230	3	C20orf114	20	31891811	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	79640	31891811	31133709	1807	139104											
ZNF341	84905	broad.mit.edu	37	chr20	32379191	32379191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtggtgcggtgggcgcGgaaactgagctggtggtacc	21	7	0	1	rs147756041		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:32379191G>A	uc002wzy.2	+	15	2453	c.2433G>A	c.(2431-2433)GCG>GCA	p.A811A	ZNF341_uc002wzx.2_Silent_p.A804A|ZNF341_uc010geq.2_Silent_p.A721A|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Silent_p.A238A	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CGGTGGGCGCGGAAACTGAGC	0.706													A	32379191	G	A	32379191	2	1	273	1	0	0	0	0	0	0	0	1	17854	1103	39	1		1	ZNF341	20	32379191	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	487380	32379191	30646329	1808	139105											
ASIP	434	broad.mit.edu	37	chr20	32856834	32856834	+	Frame_Shift_Del	DEL	C	C	-													gaaagtggtgcggccccggaCccccctatctgcgccctgcg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:32856833_32856833AC>A	uc002xah.1	+	2	269	c.259_259AC>A	c.(259-261)accfs	p.T87fs		NM_001672	NP_001663	P42127	ASIP_HUMAN	Homo sapiens agouti signaling protein (ASIP), mRNA.	87					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						GCGGCCCCGGACCCCCCTATC	0.701													-	32856834	C	-	32856834	7	5	273	1	0	1	0	1	0	0	0	0	1043	507	18	0	270	0	ASIP	20	32856834	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	477643	32856834	30168686	1809	139106											
ERGIC3	51614	broad.mit.edu	37	chr20	34130099	34130099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtggccttctcatgcTgctactgttcctgtccgagc	10	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34130099T>G	uc002xct.2	+	2	185	c.116T>G	c.(115-117)CTG>CGG	p.L39R	ERGIC3_uc002xcq.1_Missense_Mutation_p.L39R|ERGIC3_uc002xcr.1_Missense_Mutation_p.L39R|ERGIC3_uc010zvg.1_Missense_Mutation_p.L39R|ERGIC3_uc002xcs.2_Missense_Mutation_p.L39R|ERGIC3_uc002xcu.2_Missense_Mutation_p.L39R|ERGIC3_uc002xcv.2_Missense_Mutation_p.L2R	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	39	Helical; (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTTCTCATGCTGCTACTGTTC	0.597													G	34130099	T	G	34130099	3	3	273	1	0	0	0	0	1	0	0	0	5225	1580	55	5	122	5	ERGIC3	20	34130099	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1273265	34130099	28895421	1810	139107											
ERGIC3	51614	broad.mit.edu	37	chr20	34144042	34144042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatgaaggtggacggagaGgtgagtcagggagctcccta	16	7	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34144042G>T	uc002xct.2	+	10	948	c.879G>T	c.(877-879)GAG>GAT	p.E293D	ERGIC3_uc010zvg.1_Missense_Mutation_p.E293D|ERGIC3_uc002xcs.2_Missense_Mutation_p.E298D|ERGIC3_uc002xcu.2_Missense_Mutation_p.E308D|ERGIC3_uc002xcv.2_Missense_Mutation_p.E256D	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	293	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGGACGGAGAGGTGAGTCAGG	0.567													T	34144042	G	T	34144042	3	4	273	1	0	0	0	0	1	0	0	0	5225	1014	35	5	936	5	ERGIC3	20	34144042	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	13943	34144042	28881478	1811	139108											
PHF20	51230	broad.mit.edu	37	chr20	34451082	34451082	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccttaaagacagaaaagCgacccaagcagcctgataaa	7	11	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34451082C>T	uc002xek.1	+	6	679	c.568C>T	c.(568-570)CGA>TGA	p.R190*	PHF20_uc002xei.1_Nonsense_Mutation_p.R190*|PHF20_uc010gfo.1_Nonsense_Mutation_p.R190*|PHF20_uc002xej.1_Nonsense_Mutation_p.R74*|PHF20_uc002xel.1_Nonsense_Mutation_p.R52*	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	190	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GACAGAAAAGCGACCCAAGCA	0.383													T	34451082	C	T	34451082	4	4	273	1	0	0	0	0	0	1	0	0	11831	760	27	1	586	1	PHF20	20	34451082	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	307040	34451082	28574438	1812	139109											
EPB41L1	2036	broad.mit.edu	37	chr20	34761845	34761845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactccaatgagaagcatcCatcccagcaggacacgcggc	9	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34761845C>A	uc002xfb.2	+	2	317	c.146C>A	c.(145-147)CCA>CAA	p.P49Q	EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Missense_Mutation_p.P49Q|EPB41L1_uc002xev.2_Missense_Mutation_p.P49Q|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Missense_Mutation_p.P49Q|EPB41L1_uc002xez.2_Intron	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	49					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GAGAAGCATCCATCCCAGCAG	0.662													A	34761845	C	A	34761845	3	1	273	1	0	0	0	0	1	0	0	0	5152	594	21	5	148	5	EPB41L1	20	34761845	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	310763	34761845	28263675	1813	139110											
DLGAP4	22839	broad.mit.edu	37	chr20	35155282	35155282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagccggcagtgagccgcGacaaggcctcagacgccagc	13	16	1	2	rs114982034	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:35155282G>A	uc002xff.2	+	13	3253	c.2818G>A	c.(2818-2820)GAC>AAC	p.D940N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D940N|DLGAP4_uc002xfg.2_Missense_Mutation_p.D236N|DLGAP4_uc002xfh.2_Missense_Mutation_p.D404N|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Missense_Mutation_p.D236N|uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	943					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGTGAGCCGCGACAAGGCCTC	0.597													A	35155282	G	A	35155282	3	1	273	1	0	0	0	0	1	0	0	0	4562	1058	37	1	2988	1	DLGAP4	20	35155282	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	393437	35155282	27870238	1814	139111											
C20orf117	140710	broad.mit.edu	37	chr20	35431359	35431359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttcctggctccagttgCgctcactgatctgcagctgc	10	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:35431359C>T	uc002xgd.1	-	11	2852	c.2525G>A	c.(2524-2526)CGC>CAC	p.R842H	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	842											0		Myeloproliferative disorder(115;0.00874)				GCTCCAGTTGCGCTCACTGAT	0.622													T	35431359	C	T	35431359	3	4	273	1	0	0	0	0	1	0	0	0	2083	768	27	1	1828	1	C20orf117	20	35431359	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	276077	35431359	27594161	1815	139112											
C20orf132	140699	broad.mit.edu	37	chr20	35757443	35757443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagggcttacagccacagCcacatatgccatcttctcct	6	15	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:35757443C>T	uc010zvu.1	-	16	1898	c.1807G>A	c.(1807-1809)GCT>ACT	p.A603T	C20orf132_uc002xgk.2_Missense_Mutation_p.A225T|C20orf132_uc002xgm.2_Missense_Mutation_p.A603T|C20orf132_uc002xgn.2_Missense_Mutation_p.A568T	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	478											0		Myeloproliferative disorder(115;0.00878)				ACAGCCACAGCCACATATGCC	0.567													T	35757443	C	T	35757443	3	4	273	1	0	0	0	0	1	0	0	0	2086	739	26	2	1407	2	C20orf132	20	35757443	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	326084	35757443	27268077	1816	139113											
RALGAPB	57148	broad.mit.edu	37	chr20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-													aagtgctgctgtcagtaccaCccccccacataaccggaggc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(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						TGTCAGTACCACCCCCCCACA	0.443													-	37146233	C	-	37146233	7	5	273	1	0	1	0	1	0	0	0	0	13015	507	18	0	1162	0	RALGAPB	20	37146233	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	1388790	37146233	25879287	1817	139114											
RALGAPB	57148	broad.mit.edu	37	chr20	37179846	37179846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcagcattccagatttgCatgaaatagtcactgaagaa	7	8	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:37179846C>T	uc002xiw.2	+	21	3399	c.3142C>T	c.(3142-3144)CAT>TAT	p.H1048Y	RALGAPB_uc002xix.2_Missense_Mutation_p.H1044Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.H826Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1048					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TCCAGATTTGCATGAAATAGT	0.368													T	37179846	C	T	37179846	3	4	273	1	0	0	0	0	1	0	0	0	13015	710	25	2	3220	2	RALGAPB	20	37179846	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	33613	37179846	25845674	1818	139115											
SLC32A1	140679	broad.mit.edu	37	chr20	37353656	37353656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcctctgccgccctccGgctccaaggaccaggtggga	13	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:37353656G>A	uc002xjc.2	+	1	552	c.289G>A	c.(289-291)GGC>AGC	p.G97S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	97	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCGCCCTCCGGCTCCAAGGA	0.667													A	37353656	G	A	37353656	3	1	273	1	0	0	0	0	1	0	0	0	14565	1116	39	1	291	1	SLC32A1	20	37353656	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	173810	37353656	25671864	1819	139116											
MAFB	9935	broad.mit.edu	37	chr20	39317075	39317075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtacgcgtggtgcgggtgaGggtggtggtgatggtggtgg	25	3	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:39317075G>T	uc002xji.2	-	1	802	c.416C>A	c.(415-417)CCT>CAT	p.P139H		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	139	Poly-His.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				gtgcgggtgagggtggtggtg	0.572			T	IGH@	MM								T	39317075	G	T	39317075	3	4	273	1	0	0	0	0	1	0	0	0	9158	1000	35	5	559	5	MAFB	20	39317075	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1963419	39317075	23708445	1820	139117											
CHD6	84181	broad.mit.edu	37	chr20	40080570	40080570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttataatgcttgacacagTacaccaggagggcacggcaa	10	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:40080570T>C	uc002xka.1	-	22	3597	c.3419A>G	c.(3418-3420)TAC>TGC	p.Y1140C		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1140					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTTGACACAGTACACCAGGAG	0.527													C	40080570	T	C	40080570	3	2	273	1	0	0	0	0	1	0	0	0	3329	1638	57	3	4792	3	CHD6	20	40080570	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	763495	40080570	22944950	1821	139118											
MYBL2	4605	broad.mit.edu	37	chr20	42338651	42338651	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggacaacactccccacacGccaaccccgttcaagaacgc	6	18	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:42338651G>T	uc002xlb.1	+	10	1769	c.1554G>T	c.(1552-1554)ACG>ACT	p.T518T	MYBL2_uc010zwj.1_Silent_p.T494T	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	518						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTCCCCACACGCCAACCCCGT	0.607													T	42338651	G	T	42338651	2	4	273	1	0	0	0	0	0	0	0	1	10010	1074	38	5		5	MYBL2	20	42338651	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2258081	42338651	20686869	1822	139119											
JPH2	57158	broad.mit.edu	37	chr20	42744342	42744342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctctgccgccagtgcgGcctccttccgcgccttcttc	9	21	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:42744342G>A	uc002xli.1	-	4	2846	c.1973C>T	c.(1972-1974)GCC>GTC	p.A658V		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	658	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCAGTGCGGCCTCCTTCCG	0.537													A	42744342	G	A	42744342	3	1	273	1	0	0	0	0	1	0	0	0	7961	1203	42	2	125	2	JPH2	20	42744342	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	405691	42744342	20281178	1823	139120											
ADA	100	broad.mit.edu	37	chr20	43249743	43249743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtggacttgaagatgagCgggtcatctgtgttgagcga	17	5	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:43249743C>T	uc002xmj.2	-	10	1019	c.891G>A	c.(889-891)CCG>CCA	p.P297P	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	297					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGAAGATGAGCGGGTCATCTG	0.453									Adenosine_Deaminase_Deficiency				T	43249743	C	T	43249743	2	4	273	1	0	0	0	0	0	0	0	1	230	755	27	1		1	ADA	20	43249743	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	505401	43249743	19775777	1824	139121											
KCNS1	3787	broad.mit.edu	37	chr20	43727277	43727277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcctcgtcgcttcgccGccagcggatcccggtgtcgg	14	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:43727277G>A	uc002xnc.2	-	4	533	c.136C>T	c.(136-138)CGG>TGG	p.R46W	KCNS1_uc002xnd.2_Missense_Mutation_p.R46W	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	46	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				TCGCTTCGCCGCCAGCGGATC	0.736													A	43727277	G	A	43727277	3	1	273	1	0	0	0	0	1	0	0	0	8088	1086	38	1	1452	1	KCNS1	20	43727277	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	477534	43727277	19298243	1825	139122											
MMP9	4318	broad.mit.edu	37	chr20	44640858	44640858	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtaaggagtactcgacCtgtaccagcgagggccgcgg	16	11	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44640858C>A	uc002xqz.2	+	7	1099	c.1080C>A	c.(1078-1080)ACC>ACA	p.T360T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	360	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AGTACTCGACCTGTACCAGCG	0.637													A	44640858	C	A	44640858	2	1	273	1	0	0	0	0	0	0	0	1	9669	668	24	5		5	MMP9	20	44640858	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	913581	44640858	18384662	1826	139123											
MMP9	4318	broad.mit.edu	37	chr20	44641953	44641953	+	Frame_Shift_Del	DEL	C	C	-													ccacaccgcagcccacggctCccccgacggtctgccccacc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44641953delC	uc002xqz.2	+	9	1409	c.1390delC	c.(1390-1392)CCCfs	p.P464fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	464					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCCCACGGCTCCCCCGACGGT	0.483											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	44641953	C	-	44641953	7	5	273	1	0	1	0	1	0	0	0	0	9669	855	30	0	1424	0	MMP9	20	44641953	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	1095	44641953	18383567	1827	139124											
MMP9	4318	broad.mit.edu	37	chr20	44642368	44642368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatcgccgacaagtggccCgcgctgccccgcaagctgga	12	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44642368C>T	uc002xqz.2	+	10	1702	c.1683C>T	c.(1681-1683)CCC>CCT	p.P561P		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	561	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ACAAGTGGCCCGCGCTGCCCC	0.622											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44642368	C	T	44642368	2	4	273	1	0	0	0	0	0	0	0	1	9669	639	23	1		1	MMP9	20	44642368	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	415	44642368	18383152	1828	139125											
SLC12A5	57468	broad.mit.edu	37	chr20	44676687	44676687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcgctatgccctcttaCgcctggaggaagggccccca	12	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44676687C>T	uc010zxl.1	+	16	2120	c.2044C>T	c.(2044-2046)CGC>TGC	p.R682C	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.R659C	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	682					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCCTCTTACGCCTGGAGGA	0.597													T	44676687	C	T	44676687	3	4	273	1	0	0	0	0	1	0	0	0	14386	536	19	1	2162	1	SLC12A5	20	44676687	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	34319	44676687	18348833	1829	139126											
SLC12A5	57468	broad.mit.edu	37	chr20	44681755	44681755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcccttcctgctgcGgcaccacaaggtgagttgtg	13	13	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44681755G>A	uc010zxl.1	+	19	2682	c.2606G>A	c.(2605-2607)CGG>CAG	p.R869Q	SLC12A5_uc002xrb.2_Missense_Mutation_p.R846Q	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	869	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCCTGCTGCGGCACCACAAG	0.393													A	44681755	G	A	44681755	3	1	273	1	0	0	0	0	1	0	0	0	14386	1116	39	1	2736	1	SLC12A5	20	44681755	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	5068	44681755	18343765	1830	139127											
CD40	958	broad.mit.edu	37	chr20	44755294	44755294	+	Frame_Shift_Del	DEL	C	C	-													catagctgtgagaccaaagaCctggttgtgcaacaggcagg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44755294delC	uc002xrg.1	+	6	590	c.513delC	c.(511-513)GACfs	p.D171fs	CD40_uc002xrh.1_Intron|CD40_uc002xri.1_Frame_Shift_Del_p.D171fs|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_Intron|CD40_uc002xrl.1_5'Flank	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	171	TNFR-Cys 4.|Extracellular (Potential).				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			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	AGACCAAAGACCTGGTTGTGC	0.478									Immune_Deficiency_with_Hyper-IgM				-	44755294	C	-	44755294	7	5	273	1	0	1	0	1	0	0	0	0	3015	506	18	0	535	0	CD40	20	44755294	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	73539	44755294	18270226	1831	139128											
ZNF334	55713	broad.mit.edu	37	chr20	45130773	45130773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactacattcatagggttttTcccctgtgtgaattctctga	7	10	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:45130773T>C	uc002xsc.2	-	5	1389	c.1205A>G	c.(1204-1206)GAA>GGA	p.E402G	ZNF334_uc002xsa.2_Missense_Mutation_p.E425G|ZNF334_uc002xsb.2_Missense_Mutation_p.E364G|ZNF334_uc002xsd.2_Missense_Mutation_p.E364G|ZNF334_uc010ghl.2_Missense_Mutation_p.E401G	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ATAGGGTTTTTCCCCTGTGTG	0.438													C	45130773	T	C	45130773	3	2	273	1	0	0	0	0	1	0	0	0	17848	1783	62	3	841	3	ZNF334	20	45130773	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	375479	45130773	17894747	1832	139129											
STAU1	6780	broad.mit.edu	37	chr20	47741096	47741096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtcacaaagttcttcAtgtggggtgggccactctcc	11	12	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:47741096A>G	uc002xud.2	-	7	1049	c.638T>C	c.(637-639)ATG>ACG	p.M213T	STAU1_uc002xua.2_Missense_Mutation_p.M132T|STAU1_uc002xub.2_Missense_Mutation_p.M138T|STAU1_uc002xuc.2_Missense_Mutation_p.M132T|STAU1_uc002xue.2_Missense_Mutation_p.M132T|STAU1_uc002xuf.2_Missense_Mutation_p.M138T|STAU1_uc002xug.2_Missense_Mutation_p.M213T	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	213	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AAAGTTCTTCATGTGGGGTGG	0.502													G	47741096	A	G	47741096	3	3	273	1	0	0	0	0	1	0	0	0	15271	217	8	3	1127	3	STAU1	20	47741096	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	2610323	47741096	15284424	1833	139130											
ZNFX1	57169	broad.mit.edu	37	chr20	47887624	47887624	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatgatgttgcttatgtgcTctggatactggtttcggatg	13	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:47887624T>A	uc002xui.2	-	3	972	c.725A>T	c.(724-726)GAG>GTG	p.E242V		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	242							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTTATGTGCTCTGGATACTG	0.498													A	47887624	T	A	47887624	3	1	273	1	0	0	0	0	1	0	0	0	18202	1551	54	5	5079	5	ZNFX1	20	47887624	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	146528	47887624	15137896	1834	139131											
SLC9A8	23315	broad.mit.edu	37	chr20	48472028	48472028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtggccactattgccaTtttcaatgcacttcatgtgg	8	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:48472028T>C	uc002xuv.1	+	8	833	c.623T>C	c.(622-624)ATT>ACT	p.I208T	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Missense_Mutation_p.I224T|SLC9A8_uc010zyk.1_Silent_p.H196H|SLC9A8_uc010zyl.1_Silent_p.H168H|SLC9A8_uc010gib.1_Silent_p.H162H	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	208	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ACTATTGCCATTTTCAATGCA	0.468													C	48472028	T	C	48472028	3	2	273	1	0	0	0	0	1	0	0	0	14720	1493	52	3	653	3	SLC9A8	20	48472028	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	584404	48472028	14553492	1835	139132											
ATP9A	10079	broad.mit.edu	37	chr20	50313974	50313974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcaccttttcaacgaTgataaggtctccaacttgga	7	11	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:50313974T>C	uc002xwg.1	-	5	484	c.484A>G	c.(484-486)ATC>GTC	p.I162V	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	162	Cytoplasmic (Potential).				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			ovary(4)	4						TTTTCAACGATGATAAGGTCT	0.413													C	50313974	T	C	50313974	3	2	273	1	0	0	0	0	1	0	0	0	1198	1464	51	3	2755	3	ATP9A	20	50313974	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1841946	50313974	12711546	1836	139133											
ZFP64	55734	broad.mit.edu	37	chr20	50769393	50769393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcactgtactcactgtgCtgtctcttgtggctgcggag	11	12	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:50769393C>T	uc002xwl.2	-	6	1687	c.1338G>A	c.(1336-1338)CAG>CAA	p.Q446Q	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.Q444Q|ZFP64_uc002xwn.2_Silent_p.Q392Q	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	446	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTCACTGTGCTGTCTCTTGT	0.592													T	50769393	C	T	50769393	2	4	273	1	0	0	0	0	0	0	0	1	17649	796	28	2		2	ZFP64	20	50769393	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	455419	50769393	12256127	1837	139134											
ZNF217	7764	broad.mit.edu	37	chr20	52199147	52199147	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcttctgaatgtgtgaaGgtctggctgcagaacatgca	13	7	3	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:52199147G>T	uc002xwq.3	-	1	490	c.219C>A	c.(217-219)ACC>ACA	p.T73T	ZNF217_uc010gij.1_Silent_p.T65T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	73	C2H2-type 1.				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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			AATGTGTGAAGGTCTGGCTGC	0.463													T	52199147	G	T	52199147	2	4	273	1	0	0	0	0	0	0	0	1	17769	987	35	5		5	ZNF217	20	52199147	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1429754	52199147	10826373	1838	139135											
C20orf43	51507	broad.mit.edu	37	chr20	55059189	55059189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttccttcggtgctgcGgctgtgtgttttctgagcga	13	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:55059189G>A	uc002xxt.2	+	5	528	c.421G>A	c.(421-423)GGC>AGC	p.G141S	C20orf43_uc010zzf.1_Missense_Mutation_p.G171S|C20orf43_uc002xxu.2_Missense_Mutation_p.G141S|C20orf43_uc002xxv.2_Missense_Mutation_p.G141S	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	141										ovary(1)	1			Colorectal(105;0.202)			TCGGTGCTGCGGCTGTGTGTT	0.463													A	55059189	G	A	55059189	3	1	273	1	0	0	0	0	1	0	0	0	2112	1116	39	1	439	1	C20orf43	20	55059189	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2860042	55059189	7966331	1839	139136											
BMP7	655	broad.mit.edu	37	chr20	55803316	55803316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagcacctgataaaCgctgatccggaacgtctcat	9	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:55803316C>T	uc010gip.1	-	2	1109	c.580G>A	c.(580-582)GTT>ATT	p.V194I	BMP7_uc010giq.1_Missense_Mutation_p.V194I|BMP7_uc002xyc.2_Missense_Mutation_p.V194I	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	194					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACCTGATAAACGCTGATCCGG	0.562													T	55803316	C	T	55803316	3	4	273	1	0	0	0	0	1	0	0	0	1465	536	19	1	739	1	BMP7	20	55803316	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	744127	55803316	7222204	1840	139137											
PMEPA1	56937	broad.mit.edu	37	chr20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-													ctgatgcccgagttactgctGggggggcaggggccgcccag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:56227348_56227348TG>T	uc002xyq.3	-	3	1018	c.625_625CA>A	c.(625-627)agcfs	p.S209fs	PMEPA1_uc002xyr.3_Frame_Shift_Del_p.S159fs|PMEPA1_uc002xys.3_Frame_Shift_Del_p.S174fs|PMEPA1_uc002xyt.3_Frame_Shift_Del_p.S159fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	209					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						GAGTTACTGCTGGGGGGGCAG	0.687													-	56227349	G	-	56227349	7	5	273	1	0	1	0	1	0	0	0	0	12132	1335	47	0	243	0	PMEPA1	20	56227349	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	424033	56227349	6798171	1841	139138											
NPEPL1	79716	broad.mit.edu	37	chr20	57290264	57290264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtggccctcctgctggCgctcttcggccgtgcctctg	14	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:57290264C>T	uc010zzs.1	+	12	1549	c.1454C>T	c.(1453-1455)GCG>GTG	p.A485V	NPEPL1_uc010zzr.1_Missense_Mutation_p.A437V|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.A457V|NPEPL1_uc002xzp.2_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	485					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTCCTGCTGGCGCTCTTCGGC	0.667													T	57290264	C	T	57290264	3	4	273	1	0	0	0	0	1	0	0	0	10574	768	27	1	1346	1	NPEPL1	20	57290264	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1062915	57290264	5735256	1842	139139											
ADRM1	11047	broad.mit.edu	37	chr20	60881312	60881312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacgagtatctgaacaaCcccccgatgcctggggcgct	11	14	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:60881312C>T	uc002ycn.2	+	4	470	c.390C>T	c.(388-390)AAC>AAT	p.N130N	ADRM1_uc011aai.1_Silent_p.N130N|ADRM1_uc002yco.2_Silent_p.N130N|ADRM1_uc002ycp.1_RNA	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	130	PH.|Interaction with PSMD1.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ATCTGAACAACCCCCCGATGC	0.607													T	60881312	C	T	60881312	2	4	273	1	0	0	0	0	0	0	0	1	345	506	18	4		4	ADRM1	20	60881312	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3591048	60881312	2144208	1843	139140											
CABLES2	81928	broad.mit.edu	37	chr20	60966352	60966352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggtcactgctgatctTggcagccagcagcacgcagg	14	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:60966352T>C	uc002ycv.2	-	9	1256	c.1249A>G	c.(1249-1251)AAG>GAG	p.K417E		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	417					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGCTGATCTTGGCAGCCAGC	0.632													C	60966352	T	C	60966352	3	2	273	1	0	0	0	0	1	0	0	0	2530	1821	63	3	195	3	CABLES2	20	60966352	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	85040	60966352	2059168	1844	139141											
OGFR	11054	broad.mit.edu	37	chr20	61443861	61443861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggaggttcaagcccagCtctctgccccatccgctcga	10	17	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:61443861C>T	uc002ydj.2	+	7	929	c.894C>T	c.(892-894)AGC>AGT	p.S298S	OGFR_uc002ydk.2_Silent_p.S281S|OGFR_uc002ydl.2_Silent_p.S246S	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	298					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					TCAAGCCCAGCTCTCTGCCCC	0.697													T	61443861	C	T	61443861	2	4	273	1	0	0	0	0	0	0	0	1	10843	796	28	2		2	OGFR	20	61443861	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	477509	61443861	1581659	1845	139142											
DIDO1	11083	broad.mit.edu	37	chr20	61526496	61526496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaagagatttcctcacGcagaacacgatggaagagtc	10	11	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:61526496G>A	uc002ydr.1	-	9	2500	c.2236C>T	c.(2236-2238)CGT>TGT	p.R746C	DIDO1_uc002yds.1_Missense_Mutation_p.R746C|DIDO1_uc002ydt.1_Missense_Mutation_p.R746C|DIDO1_uc002ydu.1_Missense_Mutation_p.R746C	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	746	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ATTTCCTCACGCAGAACACGA	0.413													A	61526496	G	A	61526496	3	1	273	1	0	0	0	0	1	0	0	0	4522	1087	38	1	4547	1	DIDO1	20	61526496	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	82635	61526496	1499024	1846	139143											
PPDPF	79144	broad.mit.edu	37	chr20	62153137	62153137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcggaacctccccaggccTccagcagcatgaccgcctgt	9	18	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:62153137T>C	uc002yff.2	+	4	390	c.250T>C	c.(250-252)TCC>CCC	p.S84P		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and	84					cell differentiation|multicellular organismal development						0						TCCCCAGGCCTCCAGCAGCAT	0.682													C	62153137	T	C	62153137	3	2	273	1	0	0	0	0	1	0	0	0	12306	1551	54	3	260	3	PPDPF	20	62153137	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	626641	62153137	872383	1847	139144											
ZGPAT	84619	broad.mit.edu	37	chr20	62366642	62366642	+	Frame_Shift_Del	DEL	C	C	-													gcaaggctggcaccaacaagCcccccaggtgccggggaaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:62366642delC	uc002ygk.2	+	6	1361	c.1183delC	c.(1183-1185)CCCfs	p.P395fs	ZGPAT_uc002ygi.2_Frame_Shift_Del_p.P375fs|ZGPAT_uc002ygj.2_Frame_Shift_Del_p.P375fs|ZGPAT_uc010gkk.1_5'UTR|ZGPAT_uc010gkl.1_Frame_Shift_Del_p.P375fs|ZGPAT_uc002ygm.2_Frame_Shift_Del_p.P366fs|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	395					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				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CACCAACAAGCCCCCCAGGTG	0.632													-	62366642	C	-	62366642	7	5	273	1	0	1	0	1	0	0	0	0	17671	739	26	0	1201	0	ZGPAT	20	62366642	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	213505	62366642	658878	1848	139145											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654782	31654782	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaactcttggataagcAgttaagttgtccaaagcagt	10	6	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:31654782A>C	uc002ynv.2	-	1	495	c.469T>G	c.(469-471)TGC>GGC	p.C157G		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	157						keratin filament	structural molecule activity				0						TTGGATAAGCAGTTAAGTTGT	0.443													C	31654782	A	C	31654782	3	2	273	1	0	0	0	0	1	0	0	0	8542	188	7	5	299	5	KRTAP24-1	21	31654782	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08		31654782	16475113	1849	139146											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31691941	31691941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgataggcattgggcacaCagtctcctatgggctggtaa	14	9	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:31691941C>T	uc002ynw.2	-	1	667	c.413G>A	c.(412-414)TGT>TAT	p.C138Y		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	138						intermediate filament				ovary(1)	1						ATTGGGCACACAGTCTCCTAT	0.552													T	31691941	C	T	31691941	3	4	273	1	0	0	0	0	1	0	0	0	8543	478	17	4	223	4	KRTAP26-1	21	31691941	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	37159	31691941	16437954	1850	139147											
KRTAP20-1	337975	broad.mit.edu	37	chr21	31988810	31988810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actattatggtggctatgggTatggtgggcttggctgtggc	17	5	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:31988810T>C	uc011ade.1	+	1	37	c.37T>C	c.(37-39)TAT>CAT	p.Y13H	KRTAP6-1_uc002yop.2_5'Flank	NM_181615	NP_853646	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	13						intermediate filament				breast(1)	1						TGGCTATGGGTATGGTGGGCT	0.458													C	31988810	T	C	31988810	3	2	273	1	0	0	0	0	1	0	0	0	8536	1638	57	3	39	3	KRTAP20-1	21	31988810	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	296869	31988810	16141085	1851	139148											
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119422	32119422	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatatctacagccagagccGtatccacagccatagccaca	6	16	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:32119422G>T	uc011adh.1	-	1	99	c.99C>A	c.(97-99)TAC>TAA	p.Y33*		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament					0						agccagagccgtatccacagc	0.1													T	32119422	G	T	32119422	4	4	273	1	0	0	0	0	0	1	0	0	8539	1140	40	5	154	5	KRTAP21-2	21	32119422	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	130612	32119422	16010473	1852	139149											
SFRS15	57466	broad.mit.edu	37	chr21	33058000	33058000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggcgtgaaagcaggcGgctggagagcaccaactaca	16	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:33058000G>A	uc002ypd.2	-	17	2516	c.2090C>T	c.(2089-2091)CCG>CTG	p.P697L	SFRS15_uc002ype.2_Missense_Mutation_p.P697L|SFRS15_uc010glu.2_Missense_Mutation_p.P682L|SFRS15_uc002ypf.1_Missense_Mutation_p.P371L	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	697						nucleus	nucleotide binding|RNA binding				0						GAAAGCAGGCGGCTGGAGAGC	0.547													A	33058000	G	A	33058000	3	1	273	1	0	0	0	0	1	0	0	0	14171	1116	39	1	1369	1	SFRS15	21	33058000	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	938578	33058000	15071895	1853	139150											
SYNJ1	8867	broad.mit.edu	37	chr21	34029062	34029062	+	Frame_Shift_Del	DEL	A	A	-													tcatcaatcaaggcatcatcAaaaaaattattttctggtaa							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:34029061_34029061CA>C	uc002yqh.2	-	20	2848	c.2848_2848TG>G	c.(2848-2850)gatfs	p.D950fs	SYNJ1_uc011ads.1_Frame_Shift_Del_p.D906fs|SYNJ1_uc002yqf.2_Frame_Shift_Del_p.D911fs|SYNJ1_uc002yqg.2_Frame_Shift_Del_p.D906fs|SYNJ1_uc002yqi.2_Frame_Shift_Del_p.D950fs	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	911	Pro-rich.|RRM.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			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						AAGGCATCATCAAAAAAATTA	0.343													-	34029062	A	-	34029062	7	5	273	1	0	1	0	1	0	0	0	0	15449	127	5	0	2064	0	SYNJ1	21	34029062	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	971062	34029062	14100833	1854	139151											
DNAJC28	54943	broad.mit.edu	37	chr21	34861340	34861340	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgaatttttctacatcttCttcttcttcacctttactct	1	11	7	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:34861340C>A	uc002yrv.2	-	2	810	c.361G>T	c.(361-363)GAA>TAA	p.E121*	DNAJC28_uc002yrw.2_Nonsense_Mutation_p.E121*	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	121	Poly-Glu.						heat shock protein binding				0						TCTACATCTTCTTCTTCTTCA	0.353													A	34861340	C	A	34861340	4	1	273	1	0	0	0	0	0	1	0	0	4646	922	32	5	809	5	DNAJC28	21	34861340	Nonsense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	832278	34861340	13268555	1855	139152											
DOPEY2	9980	broad.mit.edu	37	chr21	37617711	37617711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaacgaagagaactgcTgtgcacccatccccatgggg	12	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:37617711T>C	uc002yvg.2	+	19	3512	c.3433T>C	c.(3433-3435)TGT>CGT	p.C1145R	DOPEY2_uc011aeb.1_Missense_Mutation_p.C1094R|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1145					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGAGAACTGCTGTGCACCCAT	0.622													C	37617711	T	C	37617711	3	2	273	1	0	0	0	0	1	0	0	0	4708	1580	55	3	3503	3	DOPEY2	21	37617711	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2756371	37617711	10512184	1856	139153											
DSCAM	1826	broad.mit.edu	37	chr21	41414452	41414452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgccgtcaactgctcCgatgacgtgtctgatatgaa	10	12	2	3	rs115504131	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:41414452C>T	uc002yyq.1	-	32	5984	c.5532G>A	c.(5530-5532)TCG>TCA	p.S1844S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1844	Cytoplasmic (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAACTGCTCCGATGACGTGT	0.557													T	41414452	C	T	41414452	2	4	273	1	0	0	0	0	0	0	0	1	4768	639	23	1		1	DSCAM	21	41414452	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3796741	41414452	6715443	1857	139154											
MX1	4599	broad.mit.edu	37	chr21	42824610	42824610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagctgatccgcctccaCttccagatggaacagattgt	10	11	0	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:42824610C>T	uc002yzh.2	+	18	2519	c.1572C>T	c.(1570-1572)CAC>CAT	p.H524H	MX1_uc002yzi.2_Silent_p.H524H|MX1_uc010goq.2_Silent_p.H524H	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	524					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCCGCCTCCACTTCCAGATGG	0.423													T	42824610	C	T	42824610	2	4	273	1	0	0	0	0	0	0	0	1	9997	564	20	4		4	MX1	21	42824610	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1410158	42824610	5305285	1858	139155											
RIPK4	54101	broad.mit.edu	37	chr21	43161183	43161183	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtcaatgacatcggcgcTgaccaactcctccaccacct	7	17	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:43161183T>C	uc002yzn.1	-	8	2218	c.2170A>G	c.(2170-2172)AGC>GGC	p.S724G		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	724						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						ACATCGGCGCTGACCAACTCC	0.697													C	43161183	T	C	43161183	3	2	273	1	0	0	0	0	1	0	0	0	13383	1580	55	3	188	3	RIPK4	21	43161183	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	336573	43161183	4968712	1859	139156											
PRDM15	63977	broad.mit.edu	37	chr21	43222998	43222998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccgcctcctcttctggCttctgctttctcttgtgact	7	16	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:43222998C>T	uc002yzq.1	-	30	4026	c.3915G>A	c.(3913-3915)AAG>AAA	p.K1305K	PRDM15_uc002yzo.2_Silent_p.K976K|PRDM15_uc002yzp.2_Silent_p.K996K|PRDM15_uc002yzr.1_Silent_p.K996K	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTCTTCTGGCTTCTGCTTTC	0.572													T	43222998	C	T	43222998	2	4	273	1	0	0	0	0	0	0	0	1	12456	796	28	2		2	PRDM15	21	43222998	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	61815	43222998	4906897	1860	139157											
TFF3	7033	broad.mit.edu	37	chr21	43733677	43733678	+	Frame_Shift_Ins	INS	-	-	G													cccggttgttgcactccttgINSggggtgacatgggggtagcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:43733676_43733677T>TG	uc002zav.3	-	1	369_370	c.189_190A>CA	c.(187-192)cccaagfs	p.P63fs		NM_003226	NP_003217	Q07654	TFF3_HUMAN	Homo sapiens trefoil factor 3 (intestinal) (TFF3), mRNA.	49	P-type.				defense response|digestion	apical lamina of hyaline layer		p.L63L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGCACTCCTTGGGGGTGACAT	0.624													G	43733678	-	G	43733677	7	5	273	1	0	1	1	0	0	0	0	0	15802	1335	47	0	103	0	TFF3	21	43733677	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	510679	43733677	4396218	1861	139158											
CBS	875	broad.mit.edu	37	chr21	44484071	44484071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgatggtgccgcccgtgCccactgaagccaccagcatg	12	16	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:44484071C>T	uc002zcu.2	-	9	1012	c.767G>A	c.(766-768)GGC>GAC	p.G256D	CBS_uc002zcs.1_Missense_Mutation_p.G151D|CBS_uc002zct.2_Missense_Mutation_p.G256D|CBS_uc002zcw.3_Missense_Mutation_p.G256D|CBS_uc002zcv.2_Missense_Mutation_p.G256D	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	256	Pyridoxal phosphate binding.		Missing (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GCCGCCCGTGCCCACTGAAGC	0.592													T	44484071	C	T	44484071	3	4	273	1	0	0	0	0	1	0	0	0	2711	739	26	2	924	2	CBS	21	44484071	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	750394	44484071	3645824	1862	139159											
PWP2	5822	broad.mit.edu	37	chr21	45540377	45540377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcctttgaccttcacaGgtgatgtttttgctccggat	11	10	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:45540377G>T	uc002zeb.2	+	11	1427	c.1337G>T	c.(1336-1338)AGG>ATG	p.R446M		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	446	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GACCTTCACAGGTGATGTTTT	0.627													T	45540377	G	T	45540377	3	4	273	1	0	0	0	0	1	0	0	0	12844	1014	35	5	1379	5	PWP2	21	45540377	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1056306	45540377	2589518	1863	139160											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011355	46011355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggaaacacaggaggcCgtgcggcagcagctgggctg	19	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:46011355C>T	uc002zfm.2	-	1	1032	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	337	29.|29 X 5 AA repeats of C-C-X(3).					keratin filament					0						CACAGGAGGCCGTGCGGCAGC	0.672													T	46011355	C	T	46011355	2	4	273	1	0	0	0	0	0	0	0	1	8513	639	23	1		1	KRTAP10-6	21	46011355	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	470978	46011355	2118540	1864	139161											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117397	46117397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctagctgccagccggcttGctgcacctcctccccctgcc	9	20	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:46117397G>A	uc002zfw.1	+	1	311	c.281G>A	c.(280-282)TGC>TAC	p.C94Y	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	keratin associated protein 10-12	94	19 X 5 AA repeats of C-C-X(3).|5.					keratin filament					0						CAGCCGGCTTGCTGCACCTCC	0.672													A	46117397	G	A	46117397	3	1	273	1	0	0	0	0	1	0	0	0	8508	1319	46	2	283	2	KRTAP10-12	21	46117397	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	106042	46117397	2012498	1865	139162											
UBE2G2	7327	broad.mit.edu	37	chr21	46207833	46207833	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacacctaaaattaacttAcatgatcaatgcctcccatt	3	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:46207833A>G	uc002zfy.2	-	3	200	c.125_splice	c.e3+1	p.M42_splice	UBE2G2_uc002zfx.2_Splice_Site_p.M14_splice	NM_003343	NP_003334	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2 isoform 1						protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)	4				Colorectal(79;0.0638)		AAATTAACTTACATGATCAAT	0.383													G	46207833	A	G	46207833	5	3	273	1	0	0	0	0	0	0	1	0	16854	405	14	3	386	3	UBE2G2	21	46207833	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	90436	46207833	1922062	1866	139163											
COL6A2	1292	broad.mit.edu	37	chr21	47532203	47532203	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgctggccaacatgacGgagcagatccggcaggaccg	15	13	0	2	rs149480738	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47532203G>T	uc002zia.1	+	3	508	c.426G>T	c.(424-426)ACG>ACT	p.T142T	COL6A2_uc002zhy.1_Silent_p.T142T|COL6A2_uc002zhz.1_Silent_p.T142T|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	142	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAACATGACGGAGCAGATCC	0.692													T	47532203	G	T	47532203	2	4	273	1	0	0	0	0	0	0	0	1	3700	1103	39	5		5	COL6A2	21	47532203	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1324370	47532203	597692	1867	139164											
C21orf56	84221	broad.mit.edu	37	chr21	47581388	47581388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaacttggggggcaccaCgtcgatgaccagcttgcgca	14	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47581388C>T	uc011afu.1	-	5	1990	c.928G>A	c.(928-930)GTG>ATG	p.V310M	C21orf56_uc002zii.2_Missense_Mutation_p.V156M	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN	hypothetical protein LOC84221 isoform 1	310							protein binding			skin(1)	1	Breast(49;0.214)			Colorectal(79;0.241)		GGGGGCACCACGTCGATGACC	0.672													T	47581388	C	T	47581388	3	4	273	1	0	0	0	0	1	0	0	0	2127	536	19	1	98	1	C21orf56	21	47581388	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	49185	47581388	548507	1868	139165											
MCM3AP	8888	broad.mit.edu	37	chr21	47663397	47663398	+	Frame_Shift_Ins	INS	-	-	G													cctgatgtaacaggaagccgINSggggggcgtccagtctctca					rs34589822	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47663396_47663397C>CG	uc002zir.1	-	23	5314_5315	c.5278_5279G>CG	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Ins_p.R255fs|MCM3AP_uc002zip.1_Frame_Shift_Ins_p.R501fs|MCM3AP_uc002ziq.1_Frame_Shift_Ins_p.R687fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.P1759P(1)		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)					AACAGGAAGCCGGGGGGGCGTC	0.525													G	47663398	-	G	47663397	7	5	273	1	0	1	1	0	0	0	0	0	9388	1115	39	0	684	0	MCM3AP	21	47663397	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	82009	47663397	466498	1869	139166											
PCNT	5116	broad.mit.edu	37	chr21	47831672	47831673	+	Frame_Shift_Ins	INS	-	-	T													ccgagctggaggccgtcctgINSttggccttggcccgcatccg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47831672_47831673insT	uc002zji.3	+	28	5792_5793	c.5685_5686insT	c.(5683-5688)CTGTTGfs	p.L1895fs	PCNT_uc002zjj.2_Frame_Shift_Ins_p.L1777fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1895_1896	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGGCCGTCCTGTTGGCCTTGGC	0.678													T	47831673	-	T	47831672	7	5	273	1	0	1	1	0	0	0	0	0	11590	1364	48	0	5795	0	PCNT	21	47831672	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	168275	47831672	298223	1870	139167	747	2									
PCNT	5116	broad.mit.edu	37	chr21	47831673	47831674	+	Frame_Shift_Ins	INS	-	-	T													cgagctggaggccgtcctgtINStggccttggcccgcatccgc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47831672_47831673G>GT	uc002zji.4	+	27	5792_5793	c.5685_5686G>GT	c.(5683-5688)ctgttgfs	p.L1895fs	PCNT_uc002zjj.3_Frame_Shift_Ins_p.L1777fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1895					G2/M transition of mitotic cell cycle|cilium assembly	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)					AGGCCGTCCTGTTGGCCTTGGC	0.678													T	47831674	-	T	47831673	7	5	273	1	0	1	1	0	0	0	0	0	11590	1722	60	0	5796	0	PCNT	21	47831673	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	47831673	298222	1871	139168	747	2									
PCNT	5116	broad.mit.edu	37	chr21	47831833	47831833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaggtggagctggacaGgcggcaggcccgcagagcca	18	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47831833G>T	uc002zji.3	+	28	5953	c.5846G>T	c.(5845-5847)AGG>ATG	p.R1949M	PCNT_uc002zjj.2_Missense_Mutation_p.R1831M	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1949	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAGCTGGACAGGCGGCAGGCC	0.721													T	47831833	G	T	47831833	3	4	273	1	0	0	0	0	1	0	0	0	11590	1000	35	5	5956	5	PCNT	21	47831833	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	160	47831833	298062	1872	139169											
DIP2A	23181	broad.mit.edu	37	chr21	47966845	47966845	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggacaacctggtcttcatCgtgggcaaactggacgggct	13	11	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47966845C>T	uc002zjo.2	+	21	2595	c.2412C>T	c.(2410-2412)ATC>ATT	p.I804I	DIP2A_uc011afy.1_Silent_p.I740I|DIP2A_uc011afz.1_Silent_p.I800I|DIP2A_uc002zjm.2_Silent_p.I804I|DIP2A_uc010gql.2_Silent_p.I761I|DIP2A_uc002zjn.2_Silent_p.I804I|DIP2A_uc002zjq.2_Silent_p.I196I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	804					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		TGGTCTTCATCGTGGGCAAAC	0.592													T	47966845	C	T	47966845	2	4	273	1	0	0	0	0	0	0	0	1	4527	874	31	1		1	DIP2A	21	47966845	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	135012	47966845	163050	1873	139170											
ZNF74	7625	broad.mit.edu	37	chr22	20759744	20759744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggagcccatcatggagCggcccctcggcggggcgcag	16	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:20759744C>T	uc010gsm.2	+	6	633	c.421C>T	c.(421-423)CGG>TGG	p.R141W	ZNF74_uc002zsg.2_Missense_Mutation_p.R70W|ZNF74_uc002zsh.2_Missense_Mutation_p.R141W|ZNF74_uc002zsi.2_Missense_Mutation_p.R70W|ZNF74_uc010gsn.2_Missense_Mutation_p.R70W	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	141					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			CATCATGGAGCGGCCCCTCGG	0.637													T	20759744	C	T	20759744	3	4	273	1	0	0	0	0	1	0	0	0	18124	759	27	1	439	1	ZNF74	22	20759744	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08		20759744	30544822	1874	139171											
ZNF74	7625	broad.mit.edu	37	chr22	20760486	20760486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacgggcgagaagccctAccagtgcggctcctgcggca	13	16	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:20760486A>G	uc010gsm.2	+	6	1375	c.1163A>G	c.(1162-1164)TAC>TGC	p.Y388C	ZNF74_uc002zsg.2_Missense_Mutation_p.Y317C|ZNF74_uc002zsh.2_Missense_Mutation_p.Y388C|ZNF74_uc002zsi.2_Missense_Mutation_p.Y317C|ZNF74_uc010gsn.2_Missense_Mutation_p.Y317C	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	388	C2H2-type 6.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			GAGAAGCCCTACCAGTGCGGC	0.647													G	20760486	A	G	20760486	3	3	273	1	0	0	0	0	1	0	0	0	18124	391	14	3	1181	3	ZNF74	22	20760486	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	742	20760486	30544080	1875	139172											
KLHL22	84861	broad.mit.edu	37	chr22	20819706	20819706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcggtacttgtcagtcCgagagaaggccacaaagttt	13	9	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:20819706C>T	uc002zsl.1	-	4	660	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	KLHL22_uc011ahr.1_Missense_Mutation_p.R41Q|KLHL22_uc002zsm.1_Missense_Mutation_p.R184Q	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	184					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			CTTGTCAGTCCGAGAGAAGGC	0.547													T	20819706	C	T	20819706	3	4	273	1	0	0	0	0	1	0	0	0	8377	652	23	1	1369	1	KLHL22	22	20819706	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	59220	20819706	30484860	1876	139173											
PI4KA	5297	broad.mit.edu	37	chr22	21064993	21064993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccaggctcaccgcacaGccaggtagcctcggacacac	9	18	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:21064993G>A	uc002zsz.3	-	52	6134	c.5903C>T	c.(5902-5904)GCT>GTT	p.A1968V	PI4KA_uc010gsp.2_Missense_Mutation_p.A359V|PI4KA_uc002zsy.3_Missense_Mutation_p.A778V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1968	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			TCACCGCACAGCCAGGTAGCC	0.582													A	21064993	G	A	21064993	3	1	273	1	0	0	0	0	1	0	0	0	11873	971	34	2	247	2	PI4KA	22	21064993	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	245287	21064993	30239573	1877	139174											
PI4KA	5297	broad.mit.edu	37	chr22	21098980	21098980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtagtctttcttcacaCaggccgggcgctcgctcagc	12	13	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:21098980C>T	uc002zsz.3	-	30	3449	c.3218G>A	c.(3217-3219)TGT>TAT	p.C1073Y		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1073					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	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)			TTTCTTCACACAGGCCGGGCG	0.532													T	21098980	C	T	21098980	3	4	273	1	0	0	0	0	1	0	0	0	11873	478	17	4	3020	4	PI4KA	22	21098980	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	33987	21098980	30205586	1878	139175											
VPREB1	7441	broad.mit.edu	37	chr22	22599237	22599237	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaccatgtcctgggcTcctgtcctgctcatgctgtt	10	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:22599237T>A	uc002zvx.1	+	1	38	c.12T>A	c.(10-12)GCT>GCA	p.A4A	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	4					immune response	extracellular region	antigen binding|protein binding				0	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)		TGTCCTGGGCTCCTGTCCTGC	0.637													A	22599237	T	A	22599237	2	1	273	1	0	0	0	0	0	0	0	1	17183	1538	54	5		5	VPREB1	22	22599237	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1500257	22599237	28705329	1879	139176											
BCR	613	broad.mit.edu	37	chr22	23523816	23523816	+	Frame_Shift_Del	DEL	G	G	-													cacggcgcgggctcgagcgtGggggatgcatccaggccccc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:23523816delG	uc002zww.2	+	1	1265	c.669delG	c.(667-669)GTGfs	p.V223fs	BCR_uc002zwx.2_Frame_Shift_Del_p.V223fs	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	223	Kinase.|Binding to ABL SH2-domain.				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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GCTCGAGCGTGGGGGATGCAT	0.667			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								-	23523816	G	-	23523816	7	5	273	1	0	1	0	1	0	0	0	0	1388	1335	47	0	671	0	BCR	22	23523816	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	924579	23523816	27780750	1880	139177											
DDT	1652	broad.mit.edu	37	chr22	24313795	24313795	+	Frame_Shift_Del	DEL	A	A	-													tctgccaggactccaaggggAaaaagcggataagtatcctt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24313794_24313794GA>G	uc002zyz.4	-	2	380	c.303_303TC>C	c.(301-303)ttcfs	p.F101fs	DDT_uc011ajf.2_Intron|DDTL_uc002zyy.4_3'UTR|DDT_uc002zza.4_Frame_Shift_Del_p.F101fs	NM_001084392	NP_001346	P30046	DOPD_HUMAN	Homo sapiens D-dopachrome tautomerase (DDT), transcript variant 2, mRNA.	101					melanin biosynthetic process	cytoplasm	D-dopachrome decarboxylase activity|dopachrome isomerase activity|protein binding										ACTCCAAGGGGAAAAAGCGGA	0.498													-	24313795	A	-	24313795	7	5	273	1	0	1	0	1	0	0	0	0	4339	246	9	0	58	0	DDT	22	24313795	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	789979	24313795	26990771	1881	139178											
SUSD2	56241	broad.mit.edu	37	chr22	24581989	24581989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctcaccctagcctccGccttcggagacccacacttt	5	20	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24581989G>A	uc002zzn.1	+	9	1389	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	449	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCTAGCCTCCGCCTTCGGAGA	0.642													A	24581989	G	A	24581989	3	1	273	1	0	0	0	0	1	0	0	0	15405	1087	38	1	1379	1	SUSD2	22	24581989	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	268194	24581989	26722577	1882	139179											
CYTSA	23384	broad.mit.edu	37	chr22	24726351	24726351	+	Frame_Shift_Del	DEL	A	A	-													ccggttacatgaggctcaagAaaaaaatgagaaactcacaa					rs71689792		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24726351delA	uc002zzw.2	+	8	2655	c.2348delA	c.(2347-2349)GAAfs	p.E783fs	CYTSA_uc002zzv.3_Frame_Shift_Del_p.E783fs|CYTSA_uc011ajq.1_Frame_Shift_Del_p.E783fs	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	783	Potential.				cell cycle|cell division						0						GAGGCTCAAGAAAAAAATGAG	0.398													-	24726351	A	-	24726351	7	5	273	1	0	1	0	1	0	0	0	0	4209	246	9	0	2370	0	CYTSA	22	24726351	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	144362	24726351	26578215	1883	139180											
CYTSA	23384	broad.mit.edu	37	chr22	24759282	24759282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttccctgccaagagtgCctgcgatggaaagtgccaag	12	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24759282C>T	uc002zzw.2	+	12	3104	c.2797C>T	c.(2797-2799)CCT>TCT	p.P933S	CYTSA_uc002zzv.3_Missense_Mutation_p.P933S|CYTSA_uc011ajq.1_Missense_Mutation_p.P933S	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	933					cell cycle|cell division						0						GCCAAGAGTGCCTGCGATGGA	0.358													T	24759282	C	T	24759282	3	4	273	1	0	0	0	0	1	0	0	0	4209	739	26	2	2835	2	CYTSA	22	24759282	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	32931	24759282	26545284	1884	139181											
TFIP11	24144	broad.mit.edu	37	chr22	26890245	26890245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcctcataatttgggCtgttactgagccaagagcac	9	10	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:26890245C>T	uc003acr.2	-	13	2392	c.2018G>A	c.(2017-2019)AGC>AAC	p.S673N	TFIP11_uc003acq.2_Missense_Mutation_p.S32N|TFIP11_uc003acs.2_Missense_Mutation_p.S673N|TFIP11_uc003act.2_Missense_Mutation_p.S673N|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	673					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						ATAATTTGGGCTGTTACTGAG	0.443													T	26890245	C	T	26890245	3	4	273	1	0	0	0	0	1	0	0	0	15804	797	28	2	503	2	TFIP11	22	26890245	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2130963	26890245	24414321	1885	139182											
CRYBA4	1413	broad.mit.edu	37	chr22	27019233	27019233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacggcttccagggccgGcggcacgagttcacggccga	17	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:27019233G>A	uc003acz.3	+	3	110	c.75G>A	c.(73-75)CGG>CGA	p.R25R		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	25	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						TCCAGGGCCGGCGGCACGAGT	0.597													A	27019233	G	A	27019233	2	1	273	1	0	0	0	0	0	0	0	1	3909	1190	42	2		2	CRYBA4	22	27019233	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	128988	27019233	24285333	1886	139183											
MN1	4330	broad.mit.edu	37	chr22	28193520	28193520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggatggcgacgtgagCgccttttcgtggggcgtcgg	17	12	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:28193520C>T	uc003adj.2	-	1	3967	c.3012G>A	c.(3010-3012)GCG>GCA	p.A1004A		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1004							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GCGACGTGAGCGCCTTTTCGT	0.701			T	ETV6	AML|meningioma								T	28193520	C	T	28193520	2	4	273	1	0	0	0	0	0	0	0	1	9673	755	27	1		1	MN1	22	28193520	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1174287	28193520	23111046	1887	139184											
EWSR1	2130	broad.mit.edu	37	chr22	29694762	29694762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggggacccatgggtcGcatgggaggccgtggaggag	20	9	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:29694762G>A	uc003aet.2	+	14	1785	c.1457G>A	c.(1456-1458)CGC>CAC	p.R486H	EWSR1_uc003aev.2_Missense_Mutation_p.R491H|EWSR1_uc003aew.2_Missense_Mutation_p.R430H|EWSR1_uc003aex.2_Missense_Mutation_p.R485H|EWSR1_uc003aey.2_Missense_Mutation_p.R281H|EWSR1_uc003aez.2_Missense_Mutation_p.R147H	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	486	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						CCCATGGGTCGCATGGGAGGC	0.577			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								A	29694762	G	A	29694762	3	1	273	1	0	0	0	0	1	0	0	0	5296	1087	38	1	1628	1	EWSR1	22	29694762	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1501242	29694762	21609804	1888	139185											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951410	30951410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgtcctccagctcccAgcacagcaggtccttcagca	9	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:30951410A>G	uc003aig.1	-	4	942	c.802T>C	c.(802-804)TGG>CGG	p.W268R	GAL3ST1_uc003aih.1_Missense_Mutation_p.W268R|GAL3ST1_uc003aii.1_Missense_Mutation_p.W268R|GAL3ST1_uc010gvz.1_Missense_Mutation_p.W268R	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	268	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						TCCAGCTCCCAGCACAGCAGG	0.657													G	30951410	A	G	30951410	3	3	273	1	0	0	0	0	1	0	0	0	6197	188	7	3	473	3	GAL3ST1	22	30951410	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1256648	30951410	20353156	1889	139186											
SMTN	6525	broad.mit.edu	37	chr22	31487145	31487145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccctgcctcctcctccaGcggctcctcctctcggggcc	8	23	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:31487145G>A	uc003ajl.1	+	10	1354	c.1136G>A	c.(1135-1137)AGC>AAC	p.S379N	SMTN_uc003ajk.1_Missense_Mutation_p.S379N|SMTN_uc003ajm.1_Missense_Mutation_p.S379N|SMTN_uc011ale.1_Missense_Mutation_p.S433N|SMTN_uc011alf.1_Missense_Mutation_p.S435N|SMTN_uc003ajn.1_Missense_Mutation_p.S371N|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	379					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						TCCTCCTCCAGCGGCTCCTCC	0.692													A	31487145	G	A	31487145	3	1	273	1	0	0	0	0	1	0	0	0	14814	971	34	2	1170	2	SMTN	22	31487145	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	535735	31487145	19817421	1890	139187											
PATZ1	23598	broad.mit.edu	37	chr22	31741294	31741294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcccggctgccccCggccccgccgcctggtgctg	12	22	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:31741294C>G	uc003akq.2	-	1	956	c.295G>C	c.(295-297)GGG>CGG	p.G99R	PATZ1_uc003akp.2_Missense_Mutation_p.G99R|PATZ1_uc003akr.2_Missense_Mutation_p.G99R|PATZ1_uc003aks.2_Missense_Mutation_p.G99R|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	99	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CGGCTGCCCCCGGCCCCGCCG	0.667													G	31741294	C	G	31741294	3	3	273	1	0	0	0	0	1	0	0	0	11476	652	23	5	2071	5	PATZ1	22	31741294	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	254149	31741294	19563272	1891	139188											
TIMP3	7078	broad.mit.edu	37	chr22	33255324	33255325	+	Frame_Shift_Ins	INS	-	-	C													agctggtaccgaggatgggcINSccccccggataaaagcatca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:33255323_33255324G>GC	uc003anb.3	+	4	1781_1782	c.595_596G>GC	c.(595-597)gccfs	p.A199fs	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604													C	33255325	-	C	33255324	7	5	273	1	0	1	1	0	0	0	0	0	15916	739	26	0	614	0	TIMP3	22	33255324	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1514030	33255324	18049242	1892	139189											
LARGE	9215	broad.mit.edu	37	chr22	33670583	33670583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatgtggatcatgtaggCgttgggcagcacaatgaact	14	7	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:33670583C>T	uc003and.3	-	16	2680	c.2101G>A	c.(2101-2103)GCC>ACC	p.A701T	LARGE_uc011amd.1_Missense_Mutation_p.A500T|LARGE_uc003ane.3_Missense_Mutation_p.A701T|LARGE_uc010gwp.2_Missense_Mutation_p.A649T|LARGE_uc011ame.1_Missense_Mutation_p.A633T|LARGE_uc011amf.1_Missense_Mutation_p.A652T	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	701	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				ATCATGTAGGCGTTGGGCAGC	0.517											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33670583	C	T	33670583	3	4	273	1	0	0	0	0	1	0	0	0	8627	768	27	1	173	1	LARGE	22	33670583	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	415259	33670583	17633983	1893	139190											
LARGE	9215	broad.mit.edu	37	chr22	34157424	34157424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagaagactcaacgaggCagccaagaatttccgtctcc	10	12	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:34157424C>T	uc003and.3	-	3	619	c.40G>A	c.(40-42)GCC>ACC	p.A14T	LARGE_uc003ane.3_Missense_Mutation_p.A14T|LARGE_uc010gwp.2_Missense_Mutation_p.A14T|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.A14T	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	14	Helical; Signal-anchor for type II membrane protein; (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CTCAACGAGGCAGCCAAGAAT	0.532													T	34157424	C	T	34157424	3	4	273	1	0	0	0	0	1	0	0	0	8627	710	25	2	2286	2	LARGE	22	34157424	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	486841	34157424	17147142	1894	139191											
HMGXB4	10042	broad.mit.edu	37	chr22	35659156	35659156	+	Frame_Shift_Del	DEL	T	T	-													aaaaaacgttcttacaaagaTtttttaagggaagaggaaga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:35659155_35659155AT>A	uc003anl.3	+	2	290	c.116_116AT>A	c.(115-117)gatfs	p.D39fs	HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.3_5'UTR	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	39					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of 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						TCTTACAAAGATTTTTTAAGG	0.388													-	35659156	T	-	35659156	7	5	273	1	0	1	0	1	0	0	0	0	7239	1490	52	0	123	0	HMGXB4	22	35659156	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	1501732	35659156	15645410	1895	139192											
MYH9	4627	broad.mit.edu	37	chr22	36680499	36680499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcatccacctgcagcaGcacatccttcagcttcttct	5	17	4	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:36680499G>A	uc003apg.2	-	39	5773	c.5542C>T	c.(5542-5544)CTG>TTG	p.L1848L		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1848	Potential.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						ACCTGCAGCAGCACATCCTTC	0.637			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36680499	G	A	36680499	2	1	273	1	0	0	0	0	0	0	0	1	10042	962	34	2		2	MYH9	22	36680499	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1021343	36680499	14624067	1896	139193											
NCF4	4689	broad.mit.edu	37	chr22	37260993	37260993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaagacaaaaggaggAtccaagtacctcatctaccg	11	9	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:37260993A>G	uc003apy.3	+	3	334	c.150A>G	c.(148-150)GGA>GGG	p.G50G	NCF4_uc003apz.3_Silent_p.G50G	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	50	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						CAAAAGGAGGATCCAAGTACC	0.582													G	37260993	A	G	37260993	2	3	273	1	0	0	0	0	0	0	0	1	10218	320	12	3		3	NCF4	22	37260993	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	580494	37260993	14043573	1897	139194											
ELFN2	114794	broad.mit.edu	37	chr22	37770940	37770940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgactcacactgcaggCggtcgtagttcttggtgacg	15	11	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:37770940C>T	uc003asq.3	-	3	1421	c.635G>A	c.(634-636)CGC>CAC	p.R212H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	212	LRRCT.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					ACACTGCAGGCGGTCGTAGTT	0.632													T	37770940	C	T	37770940	3	4	273	1	0	0	0	0	1	0	0	0	5058	768	27	1	1831	1	ELFN2	22	37770940	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	509947	37770940	13533626	1898	139195											
GCAT	23464	broad.mit.edu	37	chr22	38211780	38211780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttggctgcgcctccaagGccctagatctgctgatgggg	14	12	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:38211780G>A	uc003atz.2	+	7	945	c.925G>A	c.(925-927)GCC>ACC	p.A309T	GCAT_uc003aua.1_Missense_Mutation_p.A335T	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	309					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGCCTCCAAGGCCCTAGATCT	0.657													A	38211780	G	A	38211780	3	1	273	1	0	0	0	0	1	0	0	0	6284	1203	42	2	1029	2	GCAT	22	38211780	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	440840	38211780	13092786	1899	139196											
ANKRD54	129138	broad.mit.edu	37	chr22	38234581	38234581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagctgcacagggatccGcgccatcttccagcagctgc	10	16	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:38234581G>A	uc003auc.2	-	3	459	c.401C>T	c.(400-402)GCG>GTG	p.A134V	ANKRD54_uc003aud.2_Missense_Mutation_p.A11V	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	134	ANK 1.										0	Melanoma(58;0.045)					ACAGGGATCCGCGCCATCTTC	0.592													A	38234581	G	A	38234581	3	1	273	1	0	0	0	0	1	0	0	0	680	1087	38	1	525	1	ANKRD54	22	38234581	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	22801	38234581	13069985	1900	139197											
KCNJ4	3761	broad.mit.edu	37	chr22	38823103	38823103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggccgagcagcagggCgtgccggccacctcgtaggt	16	15	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:38823103C>T	uc003avs.1	-	2	1132	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T	KCNJ4_uc003avt.1_Silent_p.T345T	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	345	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					AGCAGCAGGGCGTGCCGGCCA	0.642													T	38823103	C	T	38823103	2	4	273	1	0	0	0	0	0	0	0	1	8053	755	27	1		1	KCNJ4	22	38823103	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	588522	38823103	12481463	1901	139198											
MGAT3	4248	broad.mit.edu	37	chr22	39884006	39884006	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaacgtcaaccacgagttCgacctgctggacgtgcgctt	10	13	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:39884006C>T	uc003axv.3	+	2	893	c.654C>T	c.(652-654)TTC>TTT	p.F218F	MGAT3_uc010gxy.2_Silent_p.F218F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	218	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					ACCACGAGTTCGACCTGCTGG	0.652													T	39884006	C	T	39884006	2	4	273	1	0	0	0	0	0	0	0	1	9544	883	31	1		1	MGAT3	22	39884006	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1060903	39884006	11420560	1902	139199											
TNRC6B	23112	broad.mit.edu	37	chr22	40681739	40681739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaattcttctcccagtctcCgggcgcaagtgcctccccag	8	16	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:40681739C>T	uc011aor.1	+	12	3884	c.3673C>T	c.(3673-3675)CGG>TGG	p.R1225W	TNRC6B_uc003aym.2_Missense_Mutation_p.R421W|TNRC6B_uc003ayn.3_Missense_Mutation_p.R1115W|TNRC6B_uc003ayo.2_Missense_Mutation_p.R972W	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1225					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TCCCAGTCTCCGGGCGCAAGT	0.473													T	40681739	C	T	40681739	3	4	273	1	0	0	0	0	1	0	0	0	16338	643	23	1	3840	1	TNRC6B	22	40681739	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	797733	40681739	10622827	1903	139200											
EP300	2033	broad.mit.edu	37	chr22	41574595	41574595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaggcccagtccccacacCtacaaggccagcagatccct	7	18	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:41574595C>A	uc003azl.3	+	31	7275	c.6880C>A	c.(6880-6882)CTA>ATA	p.L2294I		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2294					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			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GTCCCCACACCTACAAGGCCA	0.612			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				A	41574595	C	A	41574595	3	1	273	1	0	0	0	0	1	0	0	0	5148	680	24	5	7002	5	EP300	22	41574595	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	892856	41574595	9729971	1904	139201											
RANGAP1	5905	broad.mit.edu	37	chr22	41652064	41652064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgttgaagccctccAgcacctcctgaagctgttca	9	14	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:41652064A>G	uc003azs.2	-	9	2504	c.1034T>C	c.(1033-1035)CTG>CCG	p.L345P	RANGAP1_uc003azt.2_Missense_Mutation_p.L345P|RANGAP1_uc003azu.2_Missense_Mutation_p.L345P|RANGAP1_uc011aoz.1_Missense_Mutation_p.L290P	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	345					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GAAGCCCTCCAGCACCTCCTG	0.582													G	41652064	A	G	41652064	3	3	273	1	0	0	0	0	1	0	0	0	13033	188	7	3	757	3	RANGAP1	22	41652064	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	77469	41652064	9652502	1905	139202											
TCF20	6942	broad.mit.edu	37	chr22	42606575	42606576	+	Frame_Shift_Ins	INS	-	-	T													tctccctcctttgcctctgtINSttttttggctttggctctcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:42606574_42606575G>GT	uc003bcj.1	-	0	4871_4872	c.4737_4738C>AC	c.(4735-4740)aaacagfs	p.K1579fs	TCF20_uc003bck.1_Frame_Shift_Ins_p.K1579fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.Q1580fs*32(2)		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						CTTTGCCTCTGTTTTTTTGGCT	0.535													T	42606576	-	T	42606575	7	5	273	1	0	1	1	0	0	0	0	0	15687	1722	60	0	1183	0	TCF20	22	42606575	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	954511	42606575	8697991	1906	139203											
TCF20	6942	broad.mit.edu	37	chr22	42610384	42610384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgcccctgttGggtcccttgtggaatctttg	12	12	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:42610384G>T	uc003bcj.1	-	1	1062	c.928C>A	c.(928-930)CAA>AAA	p.Q310K	TCF20_uc003bck.1_Missense_Mutation_p.Q310K|TCF20_uc003bnt.2_Missense_Mutation_p.Q310K	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	310	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						tgcCCCTGTTGGGTCCCTTGT	0.398													T	42610384	G	T	42610384	3	4	273	1	0	0	0	0	1	0	0	0	15687	1357	47	5	4992	5	TCF20	22	42610384	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3809	42610384	8694182	1907	139204											
CYB5R3	1727	broad.mit.edu	37	chr22	43024235	43024235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatgctctccaggtacTgagacatcttccctccagcg	8	15	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:43024235T>C	uc003bcz.2	-	5	470	c.386A>G	c.(385-387)CAG>CGG	p.Q129R	CYB5R3_uc010gzc.1_Missense_Mutation_p.Q3R|CYB5R3_uc003bcw.2_Missense_Mutation_p.Q119R|CYB5R3_uc011aps.1_Missense_Mutation_p.Q162R|CYB5R3_uc003bcy.2_Missense_Mutation_p.Q106R|CYB5R3_uc003bcx.2_Missense_Mutation_p.Q106R	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	129	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	CTCCAGGTACTGAGACATCTT	0.592													C	43024235	T	C	43024235	3	2	273	1	0	0	0	0	1	0	0	0	4128	1580	55	3	539	3	CYB5R3	22	43024235	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	413851	43024235	8280331	1908	139205											
C22orf9	23313	broad.mit.edu	37	chr22	45599792	45599792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagatgaccccctggaaCgtgttggttttgtcactagc	11	9	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:45599792C>T	uc003bfx.1	-	6	657	c.591G>A	c.(589-591)ACG>ACA	p.T197T	C22orf9_uc010gzw.1_Silent_p.T49T|C22orf9_uc003bfv.1_Silent_p.T206T|C22orf9_uc003bfw.1_Silent_p.T202T|C22orf9_uc010gzx.2_Silent_p.T179T|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	197							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		CCCCCTGGAACGTGTTGGTTT	0.587													T	45599792	C	T	45599792	2	4	273	1	0	0	0	0	0	0	0	1	2151	523	19	1		1	C22orf9	22	45599792	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2575557	45599792	5704774	1909	139206											
FAM118A	55007	broad.mit.edu	37	chr22	45719132	45719132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggcgtcagcgcagcaGtggcccccggaatccctgcc	14	16	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:45719132G>A	uc003bfz.3	+	4	740	c.124G>A	c.(124-126)GTG>ATG	p.V42M	FAM118A_uc003bga.3_Missense_Mutation_p.V42M	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	42	Helical; (Potential).					integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGCGCAGCAGTGGCCCCCGG	0.587													A	45719132	G	A	45719132	3	1	273	1	0	0	0	0	1	0	0	0	5411	1029	36	4	130	4	FAM118A	22	45719132	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	119340	45719132	5585434	1910	139207											
SMC1B	27127	broad.mit.edu	37	chr22	45809407	45809407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacctggcggccccgccaCgacttgaaattttccacaag	9	14	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:45809407C>T	uc003bgc.2	-	1	94	c.42G>A	c.(40-42)TCG>TCA	p.S14S	SMC1B_uc003bgd.2_Silent_p.S14S|RIBC2_uc011aqs.1_5'Flank	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	14					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCCCCGCCACGACTTGAAAT	0.662													T	45809407	C	T	45809407	2	4	273	1	0	0	0	0	0	0	0	1	14782	523	19	1		1	SMC1B	22	45809407	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	90275	45809407	5495159	1911	139208											
ZBED4	9889	broad.mit.edu	37	chr22	50277809	50277809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaggcgcgcacacccgAccgtgctcattcaggaaaat	11	13	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50277809A>G	uc003bix.2	+	2	969	c.499A>G	c.(499-501)ACC>GCC	p.T167A		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	167	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		CGCACACCCGACCGTGCTCAT	0.562													G	50277809	A	G	50277809	3	3	273	1	0	0	0	0	1	0	0	0	17517	275	10	3	501	3	ZBED4	22	50277809	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	4468402	50277809	1026757	1912	139209											
CRELD2	79174	broad.mit.edu	37	chr22	50312881	50312881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtctcctcgcaggggAtggtggacaccgcaaagaag	14	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50312881A>G	uc003bja.2	+	2	268	c.133A>G	c.(133-135)ATG>GTG	p.M45V	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Missense_Mutation_p.M45V|CRELD2_uc010haj.2_Missense_Mutation_p.M45V|CRELD2_uc010hal.2_Missense_Mutation_p.M45V|CRELD2_uc010hak.2_Missense_Mutation_p.M45V|CRELD2_uc010ham.2_Missense_Mutation_p.M45V	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	45						endoplasmic reticulum|extracellular region	calcium ion binding				0		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)		CTCGCAGGGGATGGTGGACAC	0.652													G	50312881	A	G	50312881	3	3	273	1	0	0	0	0	1	0	0	0	3867	333	12	3	139	3	CRELD2	22	50312881	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	35072	50312881	991685	1913	139210											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659439	50659439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgacacattctccccgaCcctgatgctggcgttggaca	9	14	2	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50659439C>T	uc003bkb.1	-	16	3861	c.3349G>A	c.(3349-3351)GTC>ATC	p.V1117I	TUBGCP6_uc003bka.1_Missense_Mutation_p.V204I|TUBGCP6_uc010har.1_Missense_Mutation_p.V1109I|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1117	9 X 27 AA tandem repeats.|4.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		TTCTCCCCGACCCTGATGCTG	0.597													T	50659439	C	T	50659439	3	4	273	1	0	0	0	0	1	0	0	0	16767	507	18	4	2150	4	TUBGCP6	22	50659439	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	346558	50659439	645127	1914	139211											
MAPK12	6300	broad.mit.edu	37	chr22	50696733	50696734	+	Splice_Site	INS	-	-	G													tccagcagcccgatcacctgINSggggggccacatagggttga							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50696732_50696733T>TG	uc003bkm.1	-	3	407	c.256_splice	c.e3-1	p.V86_splice	MAPK12_uc003bko.2_Splice_Site_p.V6_splice|MAPK12_uc003bkl.1_Splice_Site_p.V86_splice|MAPK12_uc003bkq.2_Splice_Site|MAPK12_uc010haw.3_Splice_Site_p.V86_splice	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	86	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding	p.?(4)		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)		CCCGATCACCTGGGGGGGCCAC	0.639													G	50696734	-	G	50696733	8	5	273	1	0	1	1	0	0	0	1	0	9274	1363	47	0		0	MAPK12	22	50696733	Splice_Site	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	37294	50696733	607833	1915	139212											
PLXNB2	23654	broad.mit.edu	37	chr22	50721829	50721830	+	Frame_Shift_Ins	INS	-	-	C													cgaagacgtccacctcgacaINSccccccgtgaaaggcgtctc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50721829_50721830insC	uc003bkv.3	-	16	2721_2722	c.2615_2616insG	c.(2614-2616)GGTfs	p.G872fs	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	872	Extracellular (Potential).|IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		CCACCTCGACACCCCCCGTGAA	0.663													C	50721830	-	C	50721829	7	5	273	1	0	1	1	0	0	0	0	0	12124	146	6	0	2988	0	PLXNB2	22	50721829	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	25096	50721829	582737	1916	139213	748	2									
PLXNB2	23654	broad.mit.edu	37	chr22	50721830	50721831	+	Frame_Shift_Ins	INS	-	-	C													gaagacgtccacctcgacacINScccccgtgaaaggcgtctcc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50721829_50721830A>AC	uc003bkv.4	-	15	2708_2709	c.2615_2616T>GT	c.(2614-2616)ggtfs	p.G872fs	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	872	IPT/TIG 1.				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)		CCACCTCGACACCCCCCGTGAA	0.663													C	50721831	-	C	50721830	7	5	273	1	0	1	1	0	0	0	0	0	12124	507	18	0	2989	0	PLXNB2	22	50721830	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	1	50721830	582736	1917	139214	748	2									
SAPS2	9701	broad.mit.edu	37	chr22	50875968	50875968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagatccagcagatgacaGccaacttcgtggatcagttt	9	11	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50875968G>A	uc003blb.1	+	17	2139	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	SAPS2_uc003bky.1_Missense_Mutation_p.A546T|SAPS2_uc003bkz.1_Missense_Mutation_p.A546T|SAPS2_uc003blc.2_Missense_Mutation_p.A573T|SAPS2_uc003bla.1_Missense_Mutation_p.A547T|SAPS2_uc003bld.1_Missense_Mutation_p.A105T	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	573						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		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;0.222)		GCAGATGACAGCCAACTTCGT	0.483													A	50875968	G	A	50875968	3	1	273	1	0	0	0	0	1	0	0	0	13837	971	34	2	1686	2	SAPS2	22	50875968	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	154138	50875968	428598	1918	139215											
SAPS2	9701	broad.mit.edu	37	chr22	50879229	50879229	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctgcctcactggacaGcacaggcctcctactttgca	7	18	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50879229G>A	uc003blb.1	+	23	2797	c.2375_splice	c.e23-1	p.S792_splice	SAPS2_uc003bky.1_Intron|SAPS2_uc003bkz.1_Intron|SAPS2_uc003blc.2_Intron|SAPS2_uc003bla.1_Intron|SAPS2_uc003bld.1_Intron	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2							cytoplasm|intracellular membrane-bounded organelle	protein binding				0		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;0.222)		TCACTGGACAGCACAGGCCTC	0.622													A	50879229	G	A	50879229	5	1	273	1	0	0	0	0	0	0	1	0	13837	986	34	2		2	SAPS2	22	50879229	Splice_Site	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	3261	50879229	425337	1919	139216											
SBF1	6305	broad.mit.edu	37	chr22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-													tggccccggtgctcccagctGggggggttgtacttcttgcg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					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)		TGCTCCCAGCTGGGGGGGTTG	0.647													-	50898756	G	-	50898756	7	5	273	1	0	1	0	1	0	0	0	0	13858	1335	47	0	2521	0	SBF1	22	50898756	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	19527	50898756	405810	1920	139217											
SBF1	6305	broad.mit.edu	37	chr22	50901336	50901336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggcagcagagccgccGcaatgccatgctcgtccaga	12	15	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50901336G>T	uc003blh.2	-	17	2126	c.1931C>A	c.(1930-1932)GCG>GAG	p.A644E	SBF1_uc011arx.1_Missense_Mutation_p.A308E|SBF1_uc003bli.2_Missense_Mutation_p.A645E	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	644					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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)		CAGAGCCGCCGCAATGCCATG	0.652													T	50901336	G	T	50901336	3	4	273	1	0	0	0	0	1	0	0	0	13858	1087	38	5	3850	5	SBF1	22	50901336	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2580	50901336	403230	1921	139218											
ARSA	410	broad.mit.edu	37	chr22	51065609	51065609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctggtcgtgggagtaCgggatgcctagaaatcgatg	14	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:51065609C>T	uc003bnb.3	-	3	697	c.444G>A	c.(442-444)CCG>CCA	p.P148P	ARSA_uc003bna.3_Silent_p.P64P|ARSA_uc003bnc.3_Silent_p.P148P|ARSA_uc003bnd.3_Silent_p.P148P|ARSA_uc003bmz.3_Silent_p.P148P|ARSA_uc010hbf.2_Silent_p.P148P	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	148			P -> L (in MLD; juvenile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		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)	CGTGGGAGTACGGGATGCCTA	0.672													T	51065609	C	T	51065609	2	4	273	1	0	0	0	0	0	0	0	1	987	523	19	1		1	ARSA	22	51065609	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	164273	51065609	238957	1922	139219											
PPP2R3B	28227	broad.mit.edu	37	chrX	301654	301654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccccgtccaggtccatGcagcggaaccagtactcgat	10	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:301654G>A	uc004cpg.2	-	10	1398	c.1197C>T	c.(1195-1197)TGC>TGT	p.C399C	PPP2R3B_uc004cpf.2_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	399	EF-hand.				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				0		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)				CCAGGTCCATGCAGCGGAACC	0.682													A	301654	G	A	301654	2	1	273	1	0	0	0	0	0	0	0	1	12389	1311	46	2		2	PPP2R3B	23	301654	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08		301654	154968906	1923	139220											
ASMTL	8623	broad.mit.edu	37	chrX	1551188	1551188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccgctgtggacgtattcCcagagcagctcctcggacag	11	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:1551188C>A	uc004cpx.1	-	6	594	c.483G>T	c.(481-483)TGG>TGT	p.W161C	ASMTL_uc011mhe.1_Missense_Mutation_p.W85C|ASMTL_uc004cpy.1_Missense_Mutation_p.W145C|ASMTL_uc011mhf.1_Missense_Mutation_p.W103C	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	161	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		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)				GGACGTATTCCCAGAGCAGCT	0.632													A	1551188	C	A	1551188	3	1	273	1	0	0	0	0	1	0	0	0	1046	624	22	5	1414	5	ASMTL	23	1551188	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1249534	1551188	153719372	1924	139221											
ZBED1	9189	broad.mit.edu	37	chrX	2408419	2408419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtcgtagccgtggccGgccttgacggccagcgcgtc	15	14	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:2408419G>A	uc004cqg.2	-	2	543	c.342C>T	c.(340-342)GCC>GCT	p.A114A	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.A114A	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	114						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		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)				AGCCGTGGCCGGCCTTGACGG	0.682													A	2408419	G	A	2408419	2	1	273	1	0	0	0	0	0	0	0	1	17514	1103	39	1		1	ZBED1	23	2408419	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	857231	2408419	152862141	1925	139222											
WWC3	55841	broad.mit.edu	37	chrX	10107541	10107541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatctaccagctgcgtgGgcagagccacaaagagccca	13	12	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:10107541G>T	uc004csx.3	+	22	3371	c.3173G>T	c.(3172-3174)GGG>GTG	p.G1058V	WWC3_uc010nds.2_Missense_Mutation_p.G722V|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	1058										ovary(4)	4						CAGCTGCGTGGGCAGAGCCAC	0.582													T	10107541	G	T	10107541	3	4	273	1	0	0	0	0	1	0	0	0	17410	1232	43	5	3255	5	WWC3	23	10107541	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	7699122	10107541	145163019	1926	139223											
CLCN4	1183	broad.mit.edu	37	chrX	10181805	10181805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatcgtgcccctgatggCggcggctgtgaccagcaagt	14	12	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:10181805C>T	uc004csy.3	+	11	2091	c.1661C>T	c.(1660-1662)GCG>GTG	p.A554V	CLCN4_uc011mid.1_Missense_Mutation_p.A460V	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	554	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCTGATGGCGGCGGCTGTG	0.537													T	10181805	C	T	10181805	3	4	273	1	0	0	0	0	1	0	0	0	3465	768	27	1	1695	1	CLCN4	23	10181805	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	74264	10181805	145088755	1927	139224											
HCCS	3052	broad.mit.edu	37	chrX	11133048	11133048	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcctatgagtacgtggAgtgtcccattaggggcactg	14	10	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:11133048A>C	uc004cuk.2	+	3	460	c.194A>C	c.(193-195)GAG>GCG	p.E65A	HCCS_uc004cuj.2_Missense_Mutation_p.E65A|HCCS_uc004cul.1_Missense_Mutation_p.E65A	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	65					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						GAGTACGTGGAGTGTCCCATT	0.488													C	11133048	A	C	11133048	3	2	273	1	0	0	0	0	1	0	0	0	6990	304	11	5	200	5	HCCS	23	11133048	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	951243	11133048	144137512	1928	139225											
FRMPD4	9758	broad.mit.edu	37	chrX	12736157	12736157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttggtactgtgtcttcacGagacagtcaacacctgagca	9	10	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:12736157G>A	uc004cuz.1	+	16	3718	c.3212G>A	c.(3211-3213)CGA>CAA	p.R1071Q	FRMPD4_uc011mij.1_Missense_Mutation_p.R1063Q	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1071					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GTGTCTTCACGAGACAGTCAA	0.493													A	12736157	G	A	12736157	3	1	273	1	0	0	0	0	1	0	0	0	6059	1058	37	1	3274	1	FRMPD4	23	12736157	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1603109	12736157	142534403	1929	139226											
PRPS2	5634	broad.mit.edu	37	chrX	12840909	12840909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgttcagccatgtcccGctataaatccagaatgggaa	8	11	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:12840909G>A	uc004cvb.2	+	7	1075	c.951G>A	c.(949-951)CCG>CCA	p.P317P	PRPS2_uc004cva.2_Silent_p.P320P|PRPS2_uc010nec.2_Silent_p.P195P	NM_002765	NP_002756	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	317					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0						GCCATGTCCCGCTATAAATCC	0.443													A	12840909	G	A	12840909	2	1	273	1	0	0	0	0	0	0	0	1	12580	1074	38	1		1	PRPS2	23	12840909	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	104752	12840909	142429651	1930	139227											
TXLNG	55787	broad.mit.edu	37	chrX	16836951	16836951	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcgaacagatcccccTgatggtcagcaagattcaga	10	11	2	4			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:16836951T>C	uc004cxq.1	+	2	408	c.357T>C	c.(355-357)CCT>CCC	p.P119P	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	119					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						CAGATCCCCCTGATGGTCAGC	0.438													C	16836951	T	C	16836951	2	2	273	1	0	0	0	0	0	0	0	1	16786	1567	55	3		3	TXLNG	23	16836951	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	3996042	16836951	138433609	1931	139228											
CDKL5	6792	broad.mit.edu	37	chrX	18622406	18622406	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaaagctctcaaagcaaAgctgggacactgcagcccaa	10	11	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:18622406A>G	uc004cym.2	+	12	1615	c.1362A>G	c.(1360-1362)AAA>AAG	p.K454K	CDKL5_uc004cyn.2_Silent_p.K454K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	454					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CTCAAAGCAAAGCTGGGACAC	0.502													G	18622406	A	G	18622406	2	3	273	1	0	0	0	0	0	0	0	1	3157	69	3	3		3	CDKL5	23	18622406	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1785455	18622406	136648154	1932	139229											
SMPX	23676	broad.mit.edu	37	chrX	21772423	21772423	+	Splice_Site	DEL	A	A	-													attcatgcagtcttatccctAaaaaaacaagtaagaaactg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:21772422_21772422TA>T	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAA	0.408													-	21772423	A	-	21772423	8	5	273	1	0	1	0	1	0	0	1	0	14810	377	13	0		0	SMPX	23	21772423	Splice_Site	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	3150017	21772423	133498137	1933	139230											
ARX	170302	broad.mit.edu	37	chrX	25033714	25033714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggagcaggcaagctctgCgcggctcccagcaaccgcat	13	15	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:25033714C>T	uc004dbp.3	-	1	352	c.141G>A	c.(139-141)GCG>GCA	p.A47A		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	47						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCAAGCTCTGCGCGGCTCCCA	0.612													T	25033714	C	T	25033714	2	4	273	1	0	0	0	0	0	0	0	1	1004	755	27	1		1	ARX	23	25033714	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3261291	25033714	130236846	1934	139231											
MAGEB4	4115	broad.mit.edu	37	chrX	30260375	30260375	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagagtctccttcctcTtcctcatctgttttgaggga	8	10	4	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:30260375T>A	uc004dcb.2	+	1	207	c.123T>A	c.(121-123)TCT>TCA	p.S41S	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	41				S -> P (in Ref. 6; AAH32852).						ovary(1)	1						CTCCTTCCTCTTCCTCATCTG	0.577													A	30260375	T	A	30260375	2	1	273	1	0	0	0	0	0	0	0	1	9178	1596	56	5		5	MAGEB4	23	30260375	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	5226661	30260375	125010185	1935	139232											
NR0B1	190	broad.mit.edu	37	chrX	30327190	30327190	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggacccagcgtcgcctcGggcgccttcggtgccgcgta	14	17	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:30327190G>T	uc004dcf.3	-	1	306	c.291C>A	c.(289-291)CCC>CCA	p.P97P		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	97	4 X 67 AA tandem repeats.|2.				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			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCGTCGCCTCGGGCGCCTTCG	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30327190	G	T	30327190	2	4	273	1	0	0	0	0	0	0	0	1	10613	1103	39	5		5	NR0B1	23	30327190	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	66815	30327190	124943370	1936	139233											
DMD	1756	broad.mit.edu	37	chrX	32867885	32867885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgaggaggtctaggaggCgcctcccatcctgtaggtca	13	12	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:32867885C>T	uc004dda.1	-	3	390	c.146G>A	c.(145-147)CGC>CAC	p.R49H	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.R45H|DMD_uc004ddb.1_Missense_Mutation_p.R41H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.R41H|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	49	CH 1.|Actin-binding.		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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				GTCTAGGAGGCGCCTCCCATC	0.393													T	32867885	C	T	32867885	3	4	273	1	0	0	0	0	1	0	0	0	4580	768	27	1	11462	1	DMD	23	32867885	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2540695	32867885	122402675	1937	139234											
FAM47A	158724	broad.mit.edu	37	chrX	34150246	34150246	+	Frame_Shift_Del	DEL	A	A	-													tcgtccatgccctccttcacAaatacccagttctgggtgtc							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:34150245_34150245CA>C	uc004ddg.3	-	0	203	c.151_151TG>G	c.(151-153)gtgfs	p.V51fs		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	51										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						CCCTCCTTCACAAATACCCAG	0.547													-	34150246	A	-	34150246	7	5	273	1	0	1	0	1	0	0	0	0	5569	127	5	0	2229	0	FAM47A	23	34150246	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	1282361	34150246	121120314	1938	139235											
CXorf22	170063	broad.mit.edu	37	chrX	35993834	35993834	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacccagtggacacatcctAgtggtggcagttgtccagcc	12	12	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:35993834A>C	uc004ddj.2	+	15	2576	c.2517A>C	c.(2515-2517)CTA>CTC	p.L839L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	839										large_intestine(1)|lung(1)|ovary(1)	3						GACACATCCTAGTGGTGGCAG	0.408													C	35993834	A	C	35993834	2	2	273	1	0	0	0	0	0	0	0	1	4102	407	15	5		5	CXorf22	23	35993834	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1843588	35993834	119276726	1939	139236											
BCOR	54880	broad.mit.edu	37	chrX	39933400	39933400	+	Frame_Shift_Del	DEL	C	C	-													gcactggctgggcaccttcgCccccttccggagccttggga					rs139834626		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:39933399_39933399GC>G	uc004den.4	-	3	1492	c.1200_1200GC>C	c.(1198-1200)ggcfs	p.G400fs	BCOR_uc004dep.4_Frame_Shift_Del_p.G400fs|BCOR_uc004deo.4_Frame_Shift_Del_p.G400fs|BCOR_uc004dem.4_Frame_Shift_Del_p.G400fs|BCOR_uc004deq.4_Frame_Shift_Del_p.G400fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	400					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	p.G400fs*42(1)		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						GGGCACCTTCGCCCCCTTCCG	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39933400	C	-	39933400	7	5	273	1	0	1	0	1	0	0	0	0	1386	739	26	0	4116	0	BCOR	23	39933400	Frame_Shift_Del	DEL	C	TCGA-HU-A4GT-01A-21D-A25D-08	3939566	39933400	115337160	1940	139237											
BCOR	54880	broad.mit.edu	37	chrX	39933920	39933920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcggctgggccaagctgtAggactgctgaggtagcaagg	17	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:39933920A>G	uc004den.3	-	4	971	c.679T>C	c.(679-681)TAC>CAC	p.Y227H	BCOR_uc004dep.3_Missense_Mutation_p.Y227H|BCOR_uc004deo.3_Missense_Mutation_p.Y227H|BCOR_uc004dem.3_Missense_Mutation_p.Y227H|BCOR_uc004deq.3_Missense_Mutation_p.Y227H	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	227					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			ovary(2)|kidney(1)|central_nervous_system(1)	4						GCCAAGCTGTAGGACTGCTGA	0.562													G	39933920	A	G	39933920	3	3	273	1	0	0	0	0	1	0	0	0	1386	420	15	3	4636	3	BCOR	23	39933920	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	520	39933920	115336640	1941	139238											
USP9X	8239	broad.mit.edu	37	chrX	41077761	41077761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaagtgaggggtgcgTttgcaaaacttatagtcttt	13	5	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:41077761T>C	uc004dfb.2	+	37	6979	c.6346T>C	c.(6346-6348)TTT>CTT	p.F2116L	USP9X_uc004dfc.2_Missense_Mutation_p.F2116L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2116					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			lung(3)|breast(2)|ovary(1)	6						GAGGGGTGCGTTTGCAAAACT	0.433													C	41077761	T	C	41077761	3	2	273	1	0	0	0	0	1	0	0	0	17087	1725	60	3	6488	3	USP9X	23	41077761	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	1143841	41077761	114192799	1942	139239											
CASK	8573	broad.mit.edu	37	chrX	41390261	41390261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggaggctgggcattaccTgaggctccacgtccagtatt	14	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:41390261T>C	uc004dfl.3	-	25	2550	c.2504A>G	c.(2503-2505)CAG>CGG	p.Q835R	CASK_uc004dfj.3_Missense_Mutation_p.Q380R|CASK_uc004dfk.3_Missense_Mutation_p.Q655R|CASK_uc004dfm.3_Missense_Mutation_p.Q812R|CASK_uc004dfn.3_Missense_Mutation_p.Q811R	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	840	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						GGGCATTACCTGAGGCTCCAC	0.517													C	41390261	T	C	41390261	3	2	273	1	0	0	0	0	1	0	0	0	2665	1594	55	3	273	3	CASK	23	41390261	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	312500	41390261	113880299	1943	139240											
NDUFB11	54539	broad.mit.edu	37	chrX	47003964	47003964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgccacagcggacggggCgaccacagtcctggagaagc	14	15	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47003964C>T	uc004dhd.2	-	1	646	c.115G>A	c.(115-117)GCC>ACC	p.A39T	NDUFB11_uc004dhc.2_Missense_Mutation_p.A39T|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	39					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I					0						GCGGACGGGGCGACCACAGTC	0.657											OREG0019755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47003964	C	T	47003964	3	4	273	1	0	0	0	0	1	0	0	0	10280	768	27	1	388	1	NDUFB11	23	47003964	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5613703	47003964	108266596	1944	139241											
RBM10	8241	broad.mit.edu	37	chrX	47030579	47030579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggaggaggaggaggaGgaggatgaggaggaggagga	27	0	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47030579G>T	uc004dhf.2	+	4	733	c.354G>T	c.(352-354)GAG>GAT	p.E118D	RBM10_uc004dhe.1_Missense_Mutation_p.E108D|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Missense_Mutation_p.E118D|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Missense_Mutation_p.E183D	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	118	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						aggaggaggaggaggatgagg	0.522													T	47030579	G	T	47030579	3	4	273	1	0	0	0	0	1	0	0	0	13111	991	35	5	364	5	RBM10	23	47030579	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	26615	47030579	108239981	1945	139242											
CDK16	5127	broad.mit.edu	37	chrX	47088020	47088020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaaaggaggccagccttcGgtcttcgtcgatgcctgact	11	12	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47088020G>T	uc004dho.2	+	15	1826	c.1430G>T	c.(1429-1431)CGG>CTG	p.R477L	CDK16_uc011mli.1_Missense_Mutation_p.R483L|CDK16_uc011mlk.1_Missense_Mutation_p.R484L|CDK16_uc011mll.1_Missense_Mutation_p.R551L	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	477							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GCCAGCCTTCGGTCTTCGTCG	0.532													T	47088020	G	T	47088020	3	4	273	1	0	0	0	0	1	0	0	0	3132	1116	39	5	1726	5	CDK16	23	47088020	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	57441	47088020	108182540	1946	139243											
ZNF41	7592	broad.mit.edu	37	chrX	47307846	47307846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccttcccacagtcagcGcatacataaggtttctctcc	7	14	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47307846G>A	uc004dhs.3	-	4	1516	c.1449C>T	c.(1447-1449)TGC>TGT	p.C483C	ZNF41_uc004dhu.3_Silent_p.C475C|ZNF41_uc004dht.3_Silent_p.C355C|ZNF41_uc004dhv.3_Silent_p.C451C|ZNF41_uc004dhw.3_Silent_p.C443C|ZNF41_uc004dhy.3_Silent_p.C441C|ZNF41_uc004dhx.3_Silent_p.C441C|ZNF41_uc011mlm.1_Silent_p.C355C	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	483	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				CACAGTCAGCGCATACATAAG	0.433													A	47307846	G	A	47307846	2	1	273	1	0	0	0	0	0	0	0	1	17886	1079	38	1		1	ZNF41	23	47307846	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	219826	47307846	107962714	1947	139244											
SYN1	6853	broad.mit.edu	37	chrX	47434574	47434574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcccgctgtcgctgccGgggcagggcctgagccatct	15	15	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47434574G>A	uc004die.2	-	10	1387	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W	SYN1_uc004did.2_Missense_Mutation_p.R420W	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	420	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						TGTCGCTGCCGGGGCAGGGCC	0.652													A	47434574	G	A	47434574	3	1	273	1	0	0	0	0	1	0	0	0	15437	1115	39	1	875	1	SYN1	23	47434574	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	126728	47434574	107835986	1948	139245											
RBM3	5935	broad.mit.edu	37	chrX	48434786	48434786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctttggggcccatgggCgtggtcgcagctactctaga	16	10	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:48434786C>T	uc004dkf.1	+	4	434	c.295C>T	c.(295-297)CGT>TGT	p.R99C	RBM3_uc004dkd.1_RNA|RBM3_uc004dkg.2_Missense_Mutation_p.R99C	NM_006743	NP_006734	P98179	RBM3_HUMAN	RNA binding motif protein 3	99	Gly-rich.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1						GGCCCATGGGCGTGGTCGCAG	0.527													T	48434786	C	T	48434786	3	4	273	1	0	0	0	0	1	0	0	0	13129	768	27	1	305	1	RBM3	23	48434786	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1000212	48434786	106835774	1949	139246											
DGKK	139189	broad.mit.edu	37	chrX	50111965	50111965	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgagatctcgatggtgttaGaggatcatcaccctctgctt	10	9	4	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:50111965G>T	uc010njr.1	-	29	3850	c.3790C>A	c.(3790-3792)CTA>ATA	p.L1264I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1264	Required for localization to the plasma membrane.				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			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GATGGTGTTAGAGGATCATCA	0.403													T	50111965	G	T	50111965	3	4	273	1	0	0	0	0	1	0	0	0	4472	933	33	5	29	5	DGKK	23	50111965	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1677179	50111965	105158595	1950	139247											
GPR173	54328	broad.mit.edu	37	chrX	53106174	53106174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcacccgctacatggCcatcgcccaccaccgcttct	7	20	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:53106174C>T	uc004dru.2	+	2	629	c.371C>T	c.(370-372)GCC>GTC	p.A124V		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	124	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CGCTACATGGCCATCGCCCAC	0.587													T	53106174	C	T	53106174	3	4	273	1	0	0	0	0	1	0	0	0	6671	739	26	2	373	2	GPR173	23	53106174	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	2994209	53106174	102164386	1951	139248											
HUWE1	10075	broad.mit.edu	37	chrX	53576031	53576032	+	Frame_Shift_Ins	INS	-	-	C													gcttctcggtatgtttacgcINSccccctgaacgctggatctg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:53576030_53576031G>GC	uc004dsp.3	-	66	10326_10327	c.9924_9925C>GC	c.(9922-9927)gggcgtfs	p.G3308fs	HUWE1_uc004dsn.3_Frame_Shift_Ins_p.G2116fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3308					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.R3309C(1)|p.R3199C(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						GTATGTTTACGCCCCCCTGAAC	0.525													C	53576032	-	C	53576031	7	5	273	1	0	1	1	0	0	0	0	0	7461	726	26	0	3272	0	HUWE1	23	53576031	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	469857	53576031	101694529	1952	139249											
PHF8	23133	broad.mit.edu	37	chrX	54011391	54011391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaagctgtcctgttcaTccagactggcgttctcctcc	7	17	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:54011391T>C	uc004dsu.2	-	18	2580	c.2507A>G	c.(2506-2508)GAT>GGT	p.D836G	PHF8_uc004dst.2_Missense_Mutation_p.D800G|PHF8_uc004dsv.2_Missense_Mutation_p.D666G|PHF8_uc004dsw.2_Missense_Mutation_p.D699G|PHF8_uc004dsx.2_Missense_Mutation_p.D564G|PHF8_uc004dsy.2_Missense_Mutation_p.D783G	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	836					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GTCCTGTTCATCCAGACTGGC	0.592													C	54011391	T	C	54011391	3	2	273	1	0	0	0	0	1	0	0	0	11840	1435	50	3	821	3	PHF8	23	54011391	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	435360	54011391	101259169	1953	139250											
ITIH5L	347365	broad.mit.edu	37	chrX	54780118	54780118	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctatgagctgcagcaagtcCccagggtgcccattcagtgt	11	12	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:54780118C>A	uc004dtj.2	-	11	3348	c.3318G>T	c.(3316-3318)GGG>GGT	p.G1106G		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1106					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GCAGCAAGTCCCCAGGGTGCC	0.512													A	54780118	C	A	54780118	2	1	273	1	0	0	0	0	0	0	0	1	7908	610	22	5		5	ITIH5L	23	54780118	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	768727	54780118	100490442	1954	139251											
TRO	7216	broad.mit.edu	37	chrX	54949009	54949009	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggtaatcctaagtgtgtAgggccctctgcctcccccgg	12	13	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:54949009A>G	uc004dtq.2	+	3	153	c.46_splice	c.e3-2	p.G16_splice	TRO_uc011moj.1_Splice_Site|TRO_uc004dts.2_Splice_Site_p.G16_splice|TRO_uc004dtr.2_Splice_Site_p.G16_splice|TRO_uc004dtt.2_Splice_Site|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5						embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CTAAGTGTGTAGGGCCCTCTG	0.547													G	54949009	A	G	54949009	5	3	273	1	0	0	0	0	0	0	1	0	16571	434	15	3	50	3	TRO	23	54949009	Splice_Site	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	168891	54949009	100321551	1955	139252											
ALAS2	212	broad.mit.edu	37	chrX	55035639	55035639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggtggtgacatactgggGccccatgttcccgaagtagg	14	9	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:55035639G>A	uc004dua.3	-	11	1876	c.1738C>T	c.(1738-1740)CCC>TCC	p.P580S	ALAS2_uc004dub.3_Missense_Mutation_p.P567S|ALAS2_uc004dud.3_Missense_Mutation_p.P543S	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	580					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			ovary(1)	1					Glycine(DB00145)	ACATACTGGGGCCCCATGTTC	0.562													A	55035639	G	A	55035639	3	1	273	1	0	0	0	0	1	0	0	0	485	1203	42	2	29	2	ALAS2	23	55035639	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	86630	55035639	100234921	1956	139253											
FOXR2	139628	broad.mit.edu	37	chrX	55650415	55650415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaatatcctgtgcccccttGgcagccaggaggccccaaag	10	16	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:55650415G>T	uc004duo.2	+	1	583	c.271G>T	c.(271-273)GGC>TGC	p.G91C		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	91					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			lung(2)|central_nervous_system(1)	3						GTGCCCCCTTGGCAGCCAGGA	0.542													T	55650415	G	T	55650415	3	4	273	1	0	0	0	0	1	0	0	0	6032	1348	47	5	273	5	FOXR2	23	55650415	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	614776	55650415	99620145	1957	139254											
KLF8	11279	broad.mit.edu	37	chrX	56292162	56292162	+	Frame_Shift_Del	DEL	A	A	-													cactcattggaggagatggtAaaaatgctggatcaggtaag							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:56292161_56292161TA>T	uc004dur.3	+	2	1576	c.630_630TA>T	c.(628-630)ggtfs	p.G210fs	KLF8_uc010nkg.2_Frame_Shift_Del_p.G205fs|KLF8_uc011mop.2_Frame_Shift_Del_p.G210fs|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAGGAGATGGTAAAAATGCTG	0.478													-	56292162	A	-	56292162	7	5	273	1	0	1	0	1	0	0	0	0	8352	363	13	0	641	0	KLF8	23	56292162	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	641747	56292162	98978398	1958	139255											
DLG3	1741	broad.mit.edu	37	chrX	69669273	69669273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccatgtccctgatgaccCtggcatctttattaccaaga	6	14	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:69669273C>A	uc004dyi.1	+	3	801	c.473C>A	c.(472-474)CCT>CAT	p.P158H	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	158	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCTGATGACCCTGGCATCTTT	0.572													A	69669273	C	A	69669273	3	1	273	1	0	0	0	0	1	0	0	0	4556	681	24	5	483	5	DLG3	23	69669273	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	13377111	69669273	85601287	1959	139256											
NLGN3	54413	broad.mit.edu	37	chrX	70386936	70386936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactaccaaccagtgaagtAcaccagcctgctggcagaca	9	13	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:70386936A>G	uc004dzd.1	+	6	1189	c.989A>G	c.(988-990)TAC>TGC	p.Y330C	NLGN3_uc010nlb.1_Missense_Mutation_p.Y290C|NLGN3_uc004dzb.2_Missense_Mutation_p.Y310C|NLGN3_uc004dzc.2_Missense_Mutation_p.Y193C|NLGN3_uc011mps.1_Missense_Mutation_p.Y290C|NLGN3_uc004dze.2_Missense_Mutation_p.Y128C	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	330	Extracellular (Potential).				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			ovary(1)	1	Renal(35;0.156)					CCAGTGAAGTACACCAGCCTG	0.537													G	70386936	A	G	70386936	3	3	273	1	0	0	0	0	1	0	0	0	10463	391	14	3	1011	3	NLGN3	23	70386936	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	717663	70386936	84883624	1960	139257											
TAF1	6872	broad.mit.edu	37	chrX	70613283	70613283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggctgagcatcaagagCgttacaaagaggaatgtcag	13	7	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:70613283C>T	uc004dzu.3	+	21	3232	c.3181C>T	c.(3181-3183)CGT>TGT	p.R1061C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1082C|TAF1_uc004dzv.3_Missense_Mutation_p.R235C	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1061					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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GCATCAAGAGCGTTACAAAGA	0.507													T	70613283	C	T	70613283	3	4	273	1	0	0	0	0	1	0	0	0	15510	768	27	1	3326	1	TAF1	23	70613283	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	226347	70613283	84657277	1961	139258											
RGAG4	340526	broad.mit.edu	37	chrX	71349748	71349748	+	Frame_Shift_Del	DEL	G	G	-													gagtgaggcggaaaagcacaGgggggcgtcttcgaacttgg							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:71349748delG	uc010nlh.1	-	1	2004	c.1643delC	c.(1642-1644)CCTfs	p.P548fs	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	548										ovary(2)|skin(1)	3	Renal(35;0.156)					GAAAAGCACAGGGGGGCGTCT	0.607													-	71349748	G	-	71349748	7	5	273	1	0	1	0	1	0	0	0	0	13275	1000	35	0	70	0	RGAG4	23	71349748	Frame_Shift_Del	DEL	G	TCGA-HU-A4GT-01A-21D-A25D-08	736465	71349748	83920812	1962	139259											
RPS4X	6191	broad.mit.edu	37	chrX	71495454	71495454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgattttaatgaaccGctgcatgcaaatcttcttta	6	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:71495454G>A	uc004ear.2	-	3	298	c.202C>T	c.(202-204)CGG>TGG	p.R68W	RPS4X_uc011mqb.1_Missense_Mutation_p.R68W	NM_001007	NP_000998	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked X isoform	68	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0	Renal(35;0.156)					TTAATGAACCGCTGCATGCAA	0.443													A	71495454	G	A	71495454	3	1	273	1	0	0	0	0	1	0	0	0	13645	1086	38	1	609	1	RPS4X	23	71495454	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	145706	71495454	83775106	1963	139260											
KIAA2022	340533	broad.mit.edu	37	chrX	73963421	73963421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatcaaaagagtagtcTtgtctcgaacattgtcctga	8	10	3	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:73963421T>C	uc004eby.2	-	3	1588	c.971A>G	c.(970-972)AAG>AGG	p.K324R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	324					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AAGAGTAGTCTTGTCTCGAAC	0.448													C	73963421	T	C	73963421	3	2	273	1	0	0	0	0	1	0	0	0	8269	1609	56	3	3587	3	KIAA2022	23	73963421	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2467967	73963421	81307139	1964	139261											
UPRT	139596	broad.mit.edu	37	chrX	74513339	74513339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacttcatgttttctgCggatcgtttggtaggtgggg	16	5	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:74513339C>T	uc004ecb.1	+	2	548	c.419C>T	c.(418-420)GCG>GTG	p.A140V	UPRT_uc010nlu.1_Missense_Mutation_p.A140V|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.A140V|UPRT_uc004ece.1_Missense_Mutation_p.A4V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	140					nucleoside metabolic process	cytoplasm|nucleus					0						ATGTTTTCTGCGGATCGTTTG	0.348													T	74513339	C	T	74513339	3	4	273	1	0	0	0	0	1	0	0	0	17011	768	27	1	425	1	UPRT	23	74513339	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	549918	74513339	80757221	1965	139262											
ATRX	546	broad.mit.edu	37	chrX	76763847	76763847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcacattgatttcccttgGgaaggtcctggatttttgct	9	8	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:76763847G>A	uc004ecp.3	-	35	7693	c.7461C>T	c.(7459-7461)TCC>TCT	p.S2487S	ATRX_uc004ecq.3_Silent_p.S2449S|ATRX_uc004eco.3_Silent_p.S2272S	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2487					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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATTTCCCTTGGGAAGGTCCTG	0.398			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76763847	G	A	76763847	2	1	273	1	0	0	0	0	0	0	0	1	1208	1219	43	4		4	ATRX	23	76763847	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	2250508	76763847	78506713	1966	139263											
ATRX	546	broad.mit.edu	37	chrX	76829816	76829817	+	Frame_Shift_Ins	INS	-	-	C													caatgtttcgaagccacttcINSccctcacctgaaaatttaac							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:76829815_76829816T>TC	uc004ecp.4	-	27	6457_6458	c.6225_6226A>GA	c.(6223-6228)gggaagfs	p.G2075fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.G2037fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.G1860fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2075	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	CGAAGCCACTTCCCCTCACCTG	0.376			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76829817	-	C	76829816	7	5	273	1	0	1	1	0	0	0	0	0	1208	842	30	0	1285	0	ATRX	23	76829816	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	65969	76829816	78440744	1967	139264											
ATP7A	538	broad.mit.edu	37	chrX	77258620	77258620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaaggcagaagtaaggTataatcctgctgttatacaa	10	7	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:77258620T>C	uc004ecx.3	+	6	1754	c.1594T>C	c.(1594-1596)TAT>CAT	p.Y532H	ATP7A_uc004ecw.2_Missense_Mutation_p.Y532H	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	532	HMA 5.|Cytoplasmic (Potential).				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|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				0						AGAAGTAAGGTATAATCCTGC	0.388													C	77258620	T	C	77258620	3	2	273	1	0	0	0	0	1	0	0	0	1190	1638	57	3	1612	3	ATP7A	23	77258620	Missense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	428804	77258620	78011940	1968	139265											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913465	77913465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgaattcttgggctcTtgggctattgtggcatcctg	13	8	3	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:77913465T>C	uc004edc.1	-	2	749	c.453A>G	c.(451-453)CAA>CAG	p.Q151Q		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	151	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(1)	1						TCTTGGGCTCTTGGGCTATTG	0.562													C	77913465	T	C	77913465	2	2	273	1	0	0	0	0	0	0	0	1	17588	1606	56	3		3	ZCCHC5	23	77913465	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	654845	77913465	77357095	1969	139266											
POU3F4	5456	broad.mit.edu	37	chrX	82763572	82763572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccctggaccagcaggaCgtgaagcccgggcgcgaaga	15	14	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:82763572C>T	uc004eeg.2	+	1	304	c.240C>T	c.(238-240)GAC>GAT	p.D80D		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	80					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACCAGCAGGACGTGAAGCCCG	0.662													T	82763572	C	T	82763572	2	4	273	1	0	0	0	0	0	0	0	1	12277	535	19	1		1	POU3F4	23	82763572	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4850107	82763572	72506988	1970	139267											
POU3F4	5456	broad.mit.edu	37	chrX	82764266	82764266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggagatctcctcgctgGcagacagcctccagttggag	13	13	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:82764266G>A	uc004eeg.2	+	1	998	c.934G>A	c.(934-936)GCA>ACA	p.A312T		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	312	Homeobox.		A -> V (in DFNX2).		sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCCTCGCTGGCAGACAGCCT	0.567													A	82764266	G	A	82764266	3	1	273	1	0	0	0	0	1	0	0	0	12277	1203	42	2	936	2	POU3F4	23	82764266	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	694	82764266	72506294	1971	139268											
CYLC1	1538	broad.mit.edu	37	chrX	83128981	83128981	+	Frame_Shift_Del	DEL	A	A	-													aaaggagagtcagaaagatgAaaaaaaggataaaaaagatt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:83128981delA	uc004eei.1	+	4	1286	c.1265delA	c.(1264-1266)GAAfs	p.E422fs	CYLC1_uc004eeh.1_Frame_Shift_Del_p.E421fs	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	422	5.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CAGAAAGATGAAAAAAAGGAT	0.338													-	83128981	A	-	83128981	7	5	273	1	0	1	0	1	0	0	0	0	4141	246	9	0	1279	0	CYLC1	23	83128981	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	364715	83128981	72141579	1972	139269											
NAP1L3	4675	broad.mit.edu	37	chrX	92928199	92928199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgctgctagagctactGctgtcagattcttccccaga	10	12	2	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:92928199G>A	uc004efq.2	-	1	410	c.105C>T	c.(103-105)AGC>AGT	p.S35S	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	35	Ser-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						tagagctactgctgTCAGATT	0.244													A	92928199	G	A	92928199	2	1	273	1	0	0	0	0	0	0	0	1	10158	1310	46	2		2	NAP1L3	23	92928199	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	9799218	92928199	62342361	1973	139270											
DIAPH2	1730	broad.mit.edu	37	chrX	95993621	95993621	+	Frame_Shift_Del	DEL	A	A	-													gttttagaaaatctactgtcAaaaaagaaaaacctcttatt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:95993621delA	uc004efu.3	+	3	598	c.202delA	c.(202-204)AAAfs	p.K68fs	DIAPH2_uc004eft.3_Frame_Shift_Del_p.K68fs|DIAPH2_uc004efs.2_Frame_Shift_Del_p.K68fs	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	68					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						ATCTACTGTCAAAAAAGAAAA	0.333													-	95993621	A	-	95993621	7	5	273	1	0	1	0	1	0	0	0	0	4519	131	5	0	212	0	DIAPH2	23	95993621	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	3065422	95993621	59276939	1974	139271											
DIAPH2	1730	broad.mit.edu	37	chrX	96354737	96354737	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagatactcaacgaattAgcagagcttaagaatgaata	8	6	1	5			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:96354737A>G	uc004efu.3	+	20	2688	c.2292A>G	c.(2290-2292)TTA>TTG	p.L764L	DIAPH2_uc004eft.3_Silent_p.L764L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	764	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TCAACGAATTAGCAGAGCTTA	0.353													G	96354737	A	G	96354737	2	3	273	1	0	0	0	0	0	0	0	1	4519	417	15	3		3	DIAPH2	23	96354737	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	361116	96354737	58915823	1975	139272											
GLA	2717	broad.mit.edu	37	chrX	100656740	100656740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactcccagggaagcctgCgcaggttttatttccaacat	8	11	0	0	rs104894845	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:100656740C>T	uc004ehl.1	-	3	537	c.427G>A	c.(427-429)GCA>ACA	p.A143T	GLA_uc011mrj.1_Missense_Mutation_p.A143T	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	143			A -> P (in FD).|A -> T (in FD).		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				0					Agalsidase beta(DB00103)	GGGAAGCCTGCGCAGGTTTTA	0.453													T	100656740	C	T	100656740	3	4	273	1	0	0	0	0	1	0	0	0	6426	768	27	1	882	1	GLA	23	100656740	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	4302003	100656740	54613820	1976	139273											
BEX5	340542	broad.mit.edu	37	chrX	101409129	101409129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtggagcccaaacccCtttaacatttcctccaggct	9	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:101409129C>T	uc010nnz.2	-	3	411	c.109G>A	c.(109-111)GGG>AGG	p.G37R	BEX5_uc004eir.2_Missense_Mutation_p.G37R	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	37						cytoplasm				upper_aerodigestive_tract(1)	1						GCCCAAACCCCTTTAACATTT	0.507													T	101409129	C	T	101409129	3	4	273	1	0	0	0	0	1	0	0	0	1413	681	24	4	230	4	BEX5	23	101409129	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	752389	101409129	53861431	1977	139274											
GPRASP1	9737	broad.mit.edu	37	chrX	101912464	101912464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaccttgcttaattatcCgtcctcccgagttagaacaa	6	11	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:101912464C>T	uc004ejj.3	+	5	4424	c.3623C>T	c.(3622-3624)CCG>CTG	p.P1208L	GPRASP1_uc004eji.3_Missense_Mutation_p.P1208L|GPRASP1_uc010nod.2_Missense_Mutation_p.P1208L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1208	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CTTAATTATCCGTCCTCCCGA	0.378													T	101912464	C	T	101912464	3	4	273	1	0	0	0	0	1	0	0	0	6722	652	23	1	3625	1	GPRASP1	23	101912464	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	503335	101912464	53358096	1978	139275											
NRK	203447	broad.mit.edu	37	chrX	105168921	105168921	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgttcgaaccagtgaAgagagtggagcccttggact	15	8	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:105168921A>G	uc004emd.2	+	19	3513	c.3210A>G	c.(3208-3210)GAA>GAG	p.E1070E	NRK_uc010npc.1_Silent_p.E738E	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1070							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GAACCAGTGAAGAGAGTGGAG	0.488										HNSCC(51;0.14)			G	105168921	A	G	105168921	2	3	273	1	0	0	0	0	0	0	0	1	10655	69	3	3		3	NRK	23	105168921	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	3256457	105168921	50101639	1979	139276											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|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													C	107977804	-	C	107977803	7	5	273	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	2808882	107977803	47292757	1980	139277											
IRS4	8471	broad.mit.edu	37	chrX	107977919	107977919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaccgtgcccacctgcGgtgccctggccatctctaga	10	17	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:107977919G>A	uc004eoc.2	-	1	1689	c.1656C>T	c.(1654-1656)ACC>ACT	p.T552T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	552						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCCCACCTGCGGTGCCCTGGC	0.642													A	107977919	G	A	107977919	2	1	273	1	0	0	0	0	0	0	0	1	7842	1103	39	1		1	IRS4	23	107977919	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	116	107977919	47292641	1981	139278											
ACSL4	2182	broad.mit.edu	37	chrX	108926679	108926679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattaacaagtggacaggcaGcaaaataatggtgagcacat	10	6	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:108926679G>A	uc004eoi.2	-	4	542	c.37C>T	c.(37-39)CTG>TTG	p.L13L	ACSL4_uc004eoj.2_Intron|ACSL4_uc004eok.2_Intron|ACSL4_uc010npp.1_Silent_p.L13L	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	13	Helical; Signal-anchor for type III membrane protein; (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	TGGACAGGCAGCAAAATAATG	0.343													A	108926679	G	A	108926679	2	1	273	1	0	0	0	0	0	0	0	1	179	962	34	2		2	ACSL4	23	108926679	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	948760	108926679	46343881	1982	139279											
AGTR2	186	broad.mit.edu	37	chrX	115304470	115304470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggattcaccaacagctgcGttaatccgtttctgtattgt	9	9	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:115304470G>A	uc004eqh.3	+	3	1144	c.937G>A	c.(937-939)GTT>ATT	p.V313I		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	313	Helical; Name=7; (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3						CAACAGCTGCGTTAATCCGTT	0.473													A	115304470	G	A	115304470	3	1	273	1	0	0	0	0	1	0	0	0	402	1145	40	1	939	1	AGTR2	23	115304470	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	6377791	115304470	39966090	1983	139280											
SLC25A43	203427	broad.mit.edu	37	chrX	118587011	118587011	+	Frame_Shift_Del	DEL	A	A	-													aaacgagaaaaccgaagcctAaaaaaccaactctataaaat							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:118587011delA	uc004erd.2	+	5	1353	c.1009delA	c.(1009-1011)AAAfs	p.K337fs	SLC25A43_uc011mtt.1_3'UTR	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	337					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						ACCGAAGCCTAAAAAACCAAC	0.418													-	118587011	A	-	118587011	7	5	273	1	0	1	0	1	0	0	0	0	14508	363	13	0	1027	0	SLC25A43	23	118587011	Frame_Shift_Del	DEL	A	TCGA-HU-A4GT-01A-21D-A25D-08	3282541	118587011	36683549	1984	139281											
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760807	119760807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggttttacaaggataAtacagtatactcgaaagctc	8	7	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:119760807A>G	uc004esy.2	-	3	562	c.215T>C	c.(214-216)ATT>ACT	p.I72T	C1GALT1C1_uc004esz.2_Missense_Mutation_p.I72T	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	72	Lumenal (Potential).					integral to membrane					0						TACAAGGATAATACAGTATAC	0.408													G	119760807	A	G	119760807	3	3	273	1	0	0	0	0	1	0	0	0	1953	101	4	3	745	3	C1GALT1C1	23	119760807	Missense_Mutation	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1173796	119760807	35509753	1985	139282											
THOC2	57187	broad.mit.edu	37	chrX	122767863	122767863	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgctccattgtcatttcctCtgtaatttctattcctgcca	4	12	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:122767863C>G	uc004etu.2	-	20	2109	c.2077G>C	c.(2077-2079)GAG>CAG	p.E693Q	THOC2_uc011muh.1_Missense_Mutation_p.E618Q	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	693					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GTCATTTCCTCTGTAATTTCT	0.333													G	122767863	C	G	122767863	3	3	273	1	0	0	0	0	1	0	0	0	15862	922	32	5	2780	5	THOC2	23	122767863	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3007056	122767863	32502697	1986	139283											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299809	125299809	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtagcagaggcccctcTccgtccgccgccgctaaacc	11	17	1	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:125299809T>G	uc004euk.1	-	1	126	c.99A>C	c.(97-99)GGA>GGC	p.G33G		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	33										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GAGGCCCCTCTCCGTCCGCCG	0.701													G	125299809	T	G	125299809	2	3	273	1	0	0	0	0	0	0	0	1	4265	1538	54	5		5	DCAF12L2	23	125299809	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	2531946	125299809	29970751	1987	139284											
SMARCA1	6594	broad.mit.edu	37	chrX	128621084	128621084	+	Frame_Shift_Del	DEL	T	T	-													tcttagagaagactctcccaTtttttgcaggcgttcattca							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:128621084delT	uc004eun.3	-	17	2241	c.2128delA	c.(2128-2130)ATGfs	p.M710fs	SMARCA1_uc004eup.3_Frame_Shift_Del_p.M698fs|SMARCA1_uc011muk.1_Frame_Shift_Del_p.M710fs|SMARCA1_uc011mul.1_Frame_Shift_Del_p.M698fs	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	710					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			ovary(3)|skin(1)	4						GACTCTCCCATTTTTTGCAGG	0.323													-	128621084	T	-	128621084	7	5	273	1	0	1	0	1	0	0	0	0	14768	1493	52	0	1068	0	SMARCA1	23	128621084	Frame_Shift_Del	DEL	T	TCGA-HU-A4GT-01A-21D-A25D-08	3321275	128621084	26649476	1988	139285											
FAM127A	8933	broad.mit.edu	37	chrX	134166474	134166474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgatccggcctgcgacgCgtcgctggaggaacccgatt	14	14	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:134166474C>T	uc004eyd.2	+	1	142	c.61C>T	c.(61-63)CGT>TGT	p.R21C	uc004eye.1_RNA	NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	21											0	Acute lymphoblastic leukemia(192;0.000127)					GCCTGCGACGCGTCGCTGGAG	0.637													T	134166474	C	T	134166474	3	4	273	1	0	0	0	0	1	0	0	0	5431	768	27	1	63	1	FAM127A	23	134166474	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	5545390	134166474	21104086	1989	139286											
SAGE1	55511	broad.mit.edu	37	chrX	134989589	134989589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacagcaactggtattcCgggcatgaataccagggatc	11	9	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:134989589C>T	uc004ezh.2	+	9	1162	c.995C>T	c.(994-996)CCG>CTG	p.P332L	SAGE1_uc010nry.1_Missense_Mutation_p.P301L|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	332										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTATTCCGGGCATGAAT	0.393													T	134989589	C	T	134989589	3	4	273	1	0	0	0	0	1	0	0	0	13809	652	23	1	1025	1	SAGE1	23	134989589	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	823115	134989589	20280971	1990	139287											
SLC9A6	10479	broad.mit.edu	37	chrX	135126867	135126867	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatttgttagataatacgaGacatggtccagcctaagctt	8	7	0	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:135126867G>A	uc004ezj.2	+	16	2070	c.1994G>A	c.(1993-1995)AGA>AAA	p.R665K	SLC9A6_uc004ezk.2_Missense_Mutation_p.R697K	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	665					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GATAATACGAGACATGGTCCA	0.413													A	135126867	G	A	135126867	3	1	273	1	0	0	0	0	1	0	0	0	14718	942	33	4	2152	4	SLC9A6	23	135126867	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	137278	135126867	20143693	1991	139288											
GPR112	139378	broad.mit.edu	37	chrX	135494468	135494468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgatgaaggagagtgtgCgggagcagtggcagatacac	18	5	0	4	rs144761853		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:135494468C>T	uc004ezu.1	+	24	9271	c.8980C>T	c.(8980-8982)CGG>TGG	p.R2994W	GPR112_uc010nsb.1_Missense_Mutation_p.R2789W	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2994	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GGAGAGTGTGCGGGAGCAGTG	0.423													T	135494468	C	T	135494468	3	4	273	1	0	0	0	0	1	0	0	0	6629	759	27	1	9062	1	GPR112	23	135494468	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	367601	135494468	19776092	1992	139289											
F9	2158	broad.mit.edu	37	chrX	138643970	138643970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtaccttagagttccaCttgttgaccgagccacatgt	8	11	1	2			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:138643970C>T	uc004fas.1	+	8	1155	c.1126C>T	c.(1126-1128)CTT>TTT	p.L376F	F9_uc004fat.1_Missense_Mutation_p.L338F	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	376	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			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TAGAGTTCCACTTGTTGACCG	0.443													T	138643970	C	T	138643970	3	4	273	1	0	0	0	0	1	0	0	0	5351	565	20	4	1156	4	F9	23	138643970	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	3149502	138643970	16626590	1993	139290											
SOX3	6658	broad.mit.edu	37	chrX	139586054	139586054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcgccgaggcacgcgCgctgagagtgcgatgcgatg	18	11	0	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:139586054C>T	uc004fbd.1	-	1	1172	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	391					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			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					GAGGCACGCGCGCTGAGAGTG	0.652													T	139586054	C	T	139586054	3	4	273	1	0	0	0	0	1	0	0	0	14951	768	27	1	172	1	SOX3	23	139586054	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	942084	139586054	15684506	1994	139291											
SPANXE	171489	broad.mit.edu	37	chrX	140785702	140785702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgattctgttctttcgggCgtggtcattcaccagttcct	10	10	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:140785702C>T	uc004fbq.2	-	2	307	c.214G>A	c.(214-216)GCC>ACC	p.A72T		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	72						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTTTCGGGCGTGGTCATTC	0.433													T	140785702	C	T	140785702	3	4	273	1	0	0	0	0	1	0	0	0	14989	768	27	1	83	1	SPANXE	23	140785702	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1199648	140785702	14484858	1995	139292											
FMR1	2332	broad.mit.edu	37	chrX	147010206	147010206	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagaatatgcagcatgtgaTgcaacttacaatgaaattgt	8	5	0	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:147010206T>C	uc010nst.2	+	5	489	c.300T>C	c.(298-300)GAT>GAC	p.D100D	FMR1_uc011mwz.1_Silent_p.D100D|FMR1_uc004fcj.2_Silent_p.D100D|FMR1_uc004fck.3_Silent_p.D100D|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	100					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATGTGATGCAACTTACA	0.328									Fragile_X_syndrome				C	147010206	T	C	147010206	2	2	273	1	0	0	0	0	0	0	0	1	5960	1461	51	3		3	FMR1	23	147010206	Silent	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	6224504	147010206	8260354	1996	139293											
AFF2	2334	broad.mit.edu	37	chrX	148048440	148048440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacagctactgccaccGccacggccaccaccacaact	6	20	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:148048440G>A	uc004fcp.2	+	14	3513	c.3034G>A	c.(3034-3036)GCC>ACC	p.A1012T	AFF2_uc004fcq.2_Missense_Mutation_p.A1002T|AFF2_uc004fcr.2_Missense_Mutation_p.A973T|AFF2_uc011mxb.1_Missense_Mutation_p.A977T|AFF2_uc004fcs.2_Missense_Mutation_p.A977T|AFF2_uc011mxc.1_Missense_Mutation_p.A653T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1012					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					tactgccaccgccacggccac	0.199													A	148048440	G	A	148048440	3	1	273	1	0	0	0	0	1	0	0	0	357	1087	38	1	3143	1	AFF2	23	148048440	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	1038234	148048440	7222120	1997	139294											
IDS	3423	broad.mit.edu	37	chrX	148564565	148564565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcagttcacggggattAccagggaggtacggatcctc	13	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:148564565A>G	uc011mxe.1	-	9	1563	c.1365T>C	c.(1363-1365)GGT>GGC	p.G455G	IDS_uc011mxd.1_Silent_p.G58G|IDS_uc011mxf.1_Silent_p.G365G|IDS_uc011mxg.1_Silent_p.G244G|IDS_uc010nsu.1_Silent_p.G65G|IDS_uc004fcw.3_Silent_p.G244G	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	455						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACGGGGATTACCAGGGAGGT	0.488													G	148564565	A	G	148564565	2	3	273	1	0	0	0	0	0	0	0	1	7503	378	14	3		3	IDS	23	148564565	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	516125	148564565	6705995	1998	139295											
MTM1	4534	broad.mit.edu	37	chrX	149818248	149818248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgccgaacttttcttcttAgacattcataatattcatgt	4	9	4	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:149818248A>G	uc004fef.3	+	10	1003	c.927A>G	c.(925-927)TTA>TTG	p.L309L	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Silent_p.L272L|MTM1_uc011mxz.1_Silent_p.L194L|MTM1_uc010nte.2_Silent_p.L177L	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	309	Myotubularin phosphatase.				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			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCTTCTTAGACATTCATA	0.343													G	149818248	A	G	149818248	2	3	273	1	0	0	0	0	0	0	0	1	9937	417	15	3		3	MTM1	23	149818248	Silent	SNP	A	TCGA-HU-A4GT-01A-21D-A25D-08	1253683	149818248	5452312	1999	139296											
GPR50	9248	broad.mit.edu	37	chrX	150348483	150348483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacggatcttcagtgtgcGcaatacctgcatctacctgg	10	12	3	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:150348483G>A	uc010ntg.1	+	2	563	c.428G>A	c.(427-429)CGC>CAC	p.R143H	uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.R143H	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	143	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGTGTGCGCAATACCTGC	0.537													A	150348483	G	A	150348483	3	1	273	1	0	0	0	0	1	0	0	0	6697	1087	38	1	434	1	GPR50	23	150348483	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	530235	150348483	4922077	2000	139297											
PASD1	139135	broad.mit.edu	37	chrX	150841027	150841028	+	Frame_Shift_Ins	INS	-	-	T													ctgcaatcaccctgttagatINSttttacaggcccaacccatt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:150841026_150841027A>AT	uc004fev.4	+	13	2141_2142	c.1809_1810A>AT	c.(1807-1812)agatttfs	p.R603fs		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	603						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)					ACCCTGTTAGATTTTTACAGGC	0.5													T	150841028	-	T	150841027	7	5	273	1	0	1	1	0	0	0	0	0	11471	1493	52	0	1860	0	PASD1	23	150841027	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	492544	150841027	4429533	2001	139298											
GABRA3	2556	broad.mit.edu	37	chrX	151366135	151366135	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgggcaggaacagactctcTgttgagccagaacgacactt	11	11	1	3			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:151366135T>A	uc010ntk.1	-	8	1141	c.901A>T	c.(901-903)AGA>TGA	p.R301*		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	301					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			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACAGACTCTCTGTTGAGCCAG	0.463													A	151366135	T	A	151366135	4	1	273	1	0	0	0	0	0	1	0	0	6162	1588	55	5	589	5	GABRA3	23	151366135	Nonsense_Mutation	SNP	T	TCGA-HU-A4GT-01A-21D-A25D-08	525108	151366135	3904425	2002	139299											
ZNF275	10838	broad.mit.edu	37	chrX	152612854	152612854	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacacttcggaaaagcctttCgcctgcaaggcgtgcagcag	11	13	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:152612854C>T	uc004fhg.1	+	4	888	c.711C>T	c.(709-711)TTC>TTT	p.F237F	ZNF275_uc011mym.1_Silent_p.F237F|ZNF275_uc011myn.1_Silent_p.F174F			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	237						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGCCTTTCGCCTGCAAGG	0.577													T	152612854	C	T	152612854	2	4	273	1	0	0	0	0	0	0	0	1	17807	883	31	1		1	ZNF275	23	152612854	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	1246719	152612854	2657706	2003	139300											
ABCD1	215	broad.mit.edu	37	chrX	152994806	152994806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgaagtatgtgtggagCgcctcgggcctgctcatggt	14	10	2	1			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:152994806C>T	uc004fif.2	+	2	1419	c.1020C>T	c.(1018-1020)AGC>AGT	p.S340S		NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	340	ABC transmembrane type-1.|Helical; (Potential).				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				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTGGAGCGCCTCGGGCC	0.597													T	152994806	C	T	152994806	2	4	273	1	0	0	0	0	0	0	0	1	60	767	27	1		1	ABCD1	23	152994806	Silent	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	381952	152994806	2275754	2004	139301											
PLXNB3	5365	broad.mit.edu	37	chrX	153040502	153040502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggccactgtgccactgtgCgccagggcctcacgcagctc	12	17	1	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153040502C>T	uc004fii.2	+	24	4273	c.4099C>T	c.(4099-4101)CGC>TGC	p.R1367C	PLXNB3_uc010nuk.2_Missense_Mutation_p.R1390C|PLXNB3_uc011mzd.1_Missense_Mutation_p.R1006C|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1367	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	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)					TGCCACTGTGCGCCAGGGCCT	0.697													T	153040502	C	T	153040502	3	4	273	1	0	0	0	0	1	0	0	0	12125	768	27	1	4307	1	PLXNB3	23	153040502	Missense_Mutation	SNP	C	TCGA-HU-A4GT-01A-21D-A25D-08	45696	153040502	2230058	2005	139302											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631131	153631131	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctggacgctgtgcgcctGgctcagcttcagctccacct	12	15	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153631131G>A	uc004fks.1	-	8	1017	c.826C>T	c.(826-828)CAG>TAG	p.Q276*	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Nonsense_Mutation_p.Q276*|DNASE1L1_uc004fku.1_Nonsense_Mutation_p.Q276*|DNASE1L1_uc004fkv.1_Nonsense_Mutation_p.Q276*|DNASE1L1_uc004fkw.1_Nonsense_Mutation_p.Q276*	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	276					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	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)					CTGTGCGCCTGGCTCAGCTTC	0.657													A	153631131	G	A	153631131	4	1	273	1	0	0	0	0	0	1	0	0	4661	1357	47	4	86	4	DNASE1L1	23	153631131	Nonsense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	590629	153631131	1639429	2006	139303											
PLXNA3	55558	broad.mit.edu	37	chrX	153691740	153691740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtggctcaggtgcggGtcgatggcttccaggatgcc	16	10	2	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153691740G>A	uc004flm.2	+	5	1497	c.1324G>A	c.(1324-1326)GTC>ATC	p.V442I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	442	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					TCAGGTGCGGGTCGATGGCTT	0.617													A	153691740	G	A	153691740	3	1	273	1	0	0	0	0	1	0	0	0	12121	1261	44	4	1338	4	PLXNA3	23	153691740	Missense_Mutation	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	60609	153691740	1578820	2007	139304											
G6PD	2539	broad.mit.edu	37	chrX	153761218	153761218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggcggtggtggacccGcggggcaccgtggggtcgtc	20	10	0	0			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153761218G>A	uc004fly.1	-	9	1103	c.990C>T	c.(988-990)CGC>CGT	p.R330R	G6PD_uc004flx.1_Silent_p.R360R	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	330					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			ovary(4)	4	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)					TGGTGGACCCGCGGGGCACCG	0.637													A	153761218	G	A	153761218	2	1	273	1	0	0	0	0	0	0	0	1	6146	1074	38	1		1	G6PD	23	153761218	Silent	SNP	G	TCGA-HU-A4GT-01A-21D-A25D-08	69478	153761218	1509342	2008	139305											
F8	2157	broad.mit.edu	37	chrX	154158195	154158196	+	Frame_Shift_Ins	INS	-	-	T													ccaagttttcttcctcccctINSttttttgagaaatgagctgt							TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:154158194_154158195C>CT	uc004fmt.3	-	13	4041_4042	c.3870_3871G>AG	c.(3868-3873)aaagggfs	p.K1290fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1290	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)	TCTTCCTCCCCTTTTTTTGAGA	0.381													T	154158196	-	T	154158195	7	5	273	1	0	1	1	0	0	0	0	0	5350	1606	56	0	3265	0	F8	23	154158195	Frame_Shift_Ins	INS	-	TCGA-HU-A4GT-01A-21D-A25D-08	396977	154158195	1112365	2009	139306											
TTLL10	254173	broad.mit.edu	37	chr1	1117760	1117760	+	Frame_Shift_Del	DEL	T	T	-													gggtcctgagaatggaagagTttttcccagagacctaccgc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:1117759_1117759GT>G	uc001acy.2	+	9	1000	c.849_849GT>G	c.(847-849)gagfs	p.E283fs	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Frame_Shift_Del_p.E283fs|TTLL10_uc001acz.2_Frame_Shift_Del_p.E210fs	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	283	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)		GAATGGAAGAGTTTTTCCCAG	0.622													-	1117760	T	-	1117760	7	5	274	1	0	1	0	1	0	0	0	0	16720	1725	60	0	876	0	TTLL10	1	1117760	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08		1117760	248132861	1	139307											
NPHP4	261734	broad.mit.edu	37	chr1	5965427	5965427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccttctgagggttaaacGtcacaggttctgtagcgctg	11	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:5965427G>A	uc001alq.1	-	15	2146	c.1880C>T	c.(1879-1881)ACG>ATG	p.T627M	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	627			T -> M (in SLSN4).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		AGGGTTAAACGTCACAGGTTC	0.488													A	5965427	G	A	5965427	3	1	274	1	0	0	0	0	1	0	0	0	10581	1145	40	1	2464	1	NPHP4	1	5965427	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4847667	5965427	243285194	2	139308											
NPHP4	261734	broad.mit.edu	37	chr1	5965471	5965471	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggctggctgtttattGgcatccagaatctcgggaaa	12	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:5965471G>T	uc001alq.1	-	15	2102	c.1836C>A	c.(1834-1836)GCC>GCA	p.A612A	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	612					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		GCTGTTTATTGGCATCCAGAA	0.552													T	5965471	G	T	5965471	2	4	274	1	0	0	0	0	0	0	0	1	10581	1335	47	5		5	NPHP4	1	5965471	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	44	5965471	243285150	3	139309											
CHD5	26038	broad.mit.edu	37	chr1	6206878	6206878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgaagggggcagggggCtccgtccacctccagtgtag	15	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:6206878C>T	uc001amb.1	-	10	1537	c.1437G>A	c.(1435-1437)GAG>GAA	p.E479E	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	479	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		GGGCAGGGGGCTCCGTCCACC	0.662													T	6206878	C	T	6206878	2	4	274	1	0	0	0	0	0	0	0	1	3328	796	28	2		2	CHD5	1	6206878	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	241407	6206878	243043743	4	139310											
ESPN	83715	broad.mit.edu	37	chr1	6488424	6488424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccctgcctatccactacGctgccgccaaaggagacttc	9	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:6488424G>A	uc001amy.2	+	2	601	c.433G>A	c.(433-435)GCT>ACT	p.A145T		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	145	ANK 5.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	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													A	6488424	G	A	6488424	3	1	274	1	0	0	0	0	1	0	0	0	5254	1087	38	1	439	1	ESPN	1	6488424	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	281546	6488424	242762197	5	139311											
DNAJC11	55735	broad.mit.edu	37	chr1	6712907	6712907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctccccatccctttgcCgaagttactcgtctgagcgc	7	17	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:6712907C>T	uc001aof.2	-	6	718	c.612G>A	c.(610-612)TCG>TCA	p.S204S	DNAJC11_uc010nzt.1_Silent_p.S166S|DNAJC11_uc001aog.2_Silent_p.S204S|DNAJC11_uc010nzu.1_Silent_p.S114S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	204					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCCTTTGCCGAAGTTACTC	0.478													T	6712907	C	T	6712907	2	4	274	1	0	0	0	0	0	0	0	1	4630	639	23	1		1	DNAJC11	1	6712907	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	224483	6712907	242537714	6	139312											
SPSB1	80176	broad.mit.edu	37	chr1	9416386	9416386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggggctgggacttggggCgcaaccggctctaccacgat	15	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:9416386C>T	uc010oae.1	+	2	775	c.436C>T	c.(436-438)CGC>TGC	p.R146C	SPSB1_uc001apv.2_Missense_Mutation_p.R146C	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box	146	B30.2/SPRY.				intracellular signal transduction	cytoplasm					0	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)		GGACTTGGGGCGCAACCGGCT	0.607													T	9416386	C	T	9416386	3	4	274	1	0	0	0	0	1	0	0	0	15111	768	27	1	438	1	SPSB1	1	9416386	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2703479	9416386	239834235	7	139313											
PEX14	5195	broad.mit.edu	37	chr1	10690017	10690017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgcggcggcccgagggCgccagcaacgagagtgagcg	18	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:10690017C>T	uc001arn.2	+	9	1128	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	PEX14_uc009vmv.2_Silent_p.G305G|PEX14_uc010oam.1_Silent_p.G305G|PEX14_uc010oan.1_Silent_p.G326G|PEX14_uc009vmw.2_Silent_p.G305G	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	369					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(1)	1	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)		GGCCCGAGGGCGCCAGCAACG	0.692													T	10690017	C	T	10690017	2	4	274	1	0	0	0	0	0	0	0	1	11742	755	27	1		1	PEX14	1	10690017	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1273631	10690017	238560604	8	139314											
MTOR	2475	broad.mit.edu	37	chr1	11175526	11175526	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatcaggttggatgggtgtCtttgagaaacagaagacaga	14	5	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:11175526C>A	uc001asd.2	-	51	7138	c.7017_splice	c.e51-1	p.R2339_splice	MTOR_uc001asc.2_Splice_Site_p.R544_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated						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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GGATGGGTGTCTTTGAGAAAC	0.418													A	11175526	C	A	11175526	5	1	274	1	0	0	0	0	0	0	1	0	9954	927	32	5	665	5	MTOR	1	11175526	Splice_Site	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	485509	11175526	238075095	9	139315											
MFN2	9927	broad.mit.edu	37	chr1	12059139	12059139	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctgcctcagagcccgAgtacatggaggaggttcgtg	14	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:12059139A>C	uc001atn.3	+	8	1256	c.803A>C	c.(802-804)GAG>GCG	p.E268A	MFN2_uc009vni.2_Missense_Mutation_p.E268A	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	268	Cytoplasmic (Potential).				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			ovary(1)	1	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)		TCAGAGCCCGAGTACATGGAG	0.567													C	12059139	A	C	12059139	3	2	274	1	0	0	0	0	1	0	0	0	9524	304	11	5	825	5	MFN2	1	12059139	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	883613	12059139	237191482	10	139316											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12262149	12262149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgttggacagaagggcGcccactcggaaccagccaca	13	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:12262149G>A	uc001att.2	+	9	1115	c.1026G>A	c.(1024-1026)GCG>GCA	p.A342A	TNFRSF1B_uc001atu.2_Silent_p.A147A|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	342	Cytoplasmic (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	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)	ACAGAAGGGCGCCCACTCGGA	0.701													A	12262149	G	A	12262149	2	1	274	1	0	0	0	0	0	0	0	1	16291	1074	38	1		1	TNFRSF1B	1	12262149	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	203010	12262149	236988472	11	139317											
PRDM2	7799	broad.mit.edu	37	chr1	14107751	14107751	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatctaaccaaacatttatCtattcatgctgaagaatggc	6	8	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:14107751C>A	uc001avi.2	+	8	4317	c.3461C>A	c.(3460-3462)TCT>TAT	p.S1154Y	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1154Y|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S953Y|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1154	C2H2-type 4.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)		AAACATTTATCTATTCATGCT	0.358													A	14107751	C	A	14107751	3	1	274	1	0	0	0	0	1	0	0	0	12458	913	32	5	3487	5	PRDM2	1	14107751	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1845602	14107751	235142870	12	139318											
KAZ	23254	broad.mit.edu	37	chr1	15390070	15390070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctctggctacagggCgacagtcccggcccagttca	10	16	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:15390070C>T	uc001avm.3	+	7	1331	c.1050C>T	c.(1048-1050)GGC>GGT	p.G350G	KAZ_uc009vog.1_Silent_p.G350G|KAZ_uc010obj.1_Silent_p.G350G|KAZ_uc001avo.2_Silent_p.G344G|KAZ_uc001avp.2_Silent_p.G256G|KAZ_uc001avq.2_Silent_p.G256G|KAZ_uc001avr.2_Nonsense_Mutation_p.R252*	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	350					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						GGCTACAGGGCGACAGTCCCG	0.602													T	15390070	C	T	15390070	2	4	274	1	0	0	0	0	0	0	0	1	7988	755	27	1		1	KAZ	1	15390070	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1282319	15390070	233860551	13	139319											
SPEN	23013	broad.mit.edu	37	chr1	16202716	16202716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcagataacagggagCgtgcttatgaacatagtgcc	13	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:16202716C>T	uc001axk.1	+	3	628	c.424C>T	c.(424-426)CGT>TGT	p.R142C	SPEN_uc010obp.1_Missense_Mutation_p.R101C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	142	Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		TAACAGGGAGCGTGCTTATGA	0.438													T	16202716	C	T	16202716	3	4	274	1	0	0	0	0	1	0	0	0	15037	768	27	1	434	1	SPEN	1	16202716	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	812646	16202716	233047905	14	139320											
SPEN	23013	broad.mit.edu	37	chr1	16260465	16260465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgcccccgccagttgActctaaaaagcctttagaag	9	15	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:16260465A>G	uc001axk.1	+	11	7934	c.7730A>G	c.(7729-7731)GAC>GGC	p.D2577G	SPEN_uc010obp.1_Missense_Mutation_p.D2536G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2577	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		CCGCCAGTTGACTCTAAAAAG	0.532													G	16260465	A	G	16260465	3	3	274	1	0	0	0	0	1	0	0	0	15037	275	10	3	7772	3	SPEN	1	16260465	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	57749	16260465	232990156	15	139321											
EPHA2	1969	broad.mit.edu	37	chr1	16461656	16461656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggagaaaccctcggtgCggcgcacattgtagctgttg	13	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:16461656C>T	uc001aya.1	-	7	1594	c.1457G>A	c.(1456-1458)CGC>CAC	p.R486H		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	486	Extracellular (Potential).|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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	ACCCTCGGTGCGGCGCACATT	0.701													T	16461656	C	T	16461656	3	4	274	1	0	0	0	0	1	0	0	0	5167	768	27	1	1517	1	EPHA2	1	16461656	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	201191	16461656	232788965	16	139322											
PADI3	51702	broad.mit.edu	37	chr1	17575654	17575654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgctgcagagaatcgtgCgtgtgtccctggagcatccc	13	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:17575654C>T	uc001bai.2	+	1	62	c.22C>T	c.(22-24)CGT>TGT	p.R8C		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	8					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		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)	GAGAATCGTGCGTGTGTCCCT	0.592													T	17575654	C	T	17575654	3	4	274	1	0	0	0	0	1	0	0	0	11379	768	27	1	24	1	PADI3	1	17575654	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1113998	17575654	231674967	17	139323											
PADI3	51702	broad.mit.edu	37	chr1	17593227	17593227	+	Frame_Shift_Del	DEL	G	G	-													ttggcagcggcagtgggtctGggggcccagtgggtatggcg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:17593226_17593226TG>T	uc001bai.3	+	4	461	c.421_421TG>T	c.(421-423)tggfs	p.W141fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	141					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)	GCAGTGGGTCTGGGGGCCCAG	0.587													-	17593227	G	-	17593227	7	5	274	1	0	1	0	1	0	0	0	0	11379	1357	47	0	440	0	PADI3	1	17593227	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	17573	17593227	231657394	18	139324											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023681	18023681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatttacgagatggccgacGaccccgacatctgggtgcgc	12	14	1	1	rs149908903		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:18023681G>A	uc001ban.2	+	29	3805	c.3646G>A	c.(3646-3648)GAC>AAC	p.D1216N	ARHGEF10L_uc001bao.2_Missense_Mutation_p.D1177N|ARHGEF10L_uc001bap.2_Missense_Mutation_p.D1172N|ARHGEF10L_uc001baq.2_Missense_Mutation_p.D977N|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.D989N|ARHGEF10L_uc001bar.2_Missense_Mutation_p.D919N|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.D240N	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1216					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		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)		GATGGCCGACGACCCCGACAT	0.697													A	18023681	G	A	18023681	3	1	274	1	0	0	0	0	1	0	0	0	895	1058	37	1	3756	1	ARHGEF10L	1	18023681	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	430454	18023681	231226940	19	139325											
AKR7A2	8574	broad.mit.edu	37	chr1	19630817	19630817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccttcctctgttgctgCcaagttctgctccagctgct	10	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:19630817C>T	uc001bbw.2	-	7	1004	c.982G>A	c.(982-984)GCA>ACA	p.A328T	AKR7A2_uc001bbx.2_Missense_Mutation_p.A293T	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	328					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		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;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGTTGCTGCCAAGTTCTGC	0.607													T	19630817	C	T	19630817	3	4	274	1	0	0	0	0	1	0	0	0	475	739	26	2	101	2	AKR7A2	1	19630817	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1607136	19630817	229619804	20	139326											
HSPG2	3339	broad.mit.edu	37	chr1	22192298	22192298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttcccaccgtaggccGccacctgcaaagaggcaagc	10	16	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:22192298G>A	uc001bfj.2	-	34	4266	c.4226C>T	c.(4225-4227)GCG>GTG	p.A1409V	HSPG2_uc009vqd.2_Missense_Mutation_p.A1410V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1409	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	ACCGTAGGCCGCCACCTGCAA	0.592													A	22192298	G	A	22192298	3	1	274	1	0	0	0	0	1	0	0	0	7430	1087	38	1	9205	1	HSPG2	1	22192298	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2561481	22192298	227058323	21	139327											
ZBTB40	9923	broad.mit.edu	37	chr1	22843928	22843928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttccggcaagccaatgGcctctccatccatctgcaca	9	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:22843928G>A	uc001bft.2	+	14	3315	c.2804G>A	c.(2803-2805)GGC>GAC	p.G935D	ZBTB40_uc001bfu.2_Missense_Mutation_p.G935D|ZBTB40_uc009vqi.1_Missense_Mutation_p.G823D	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	935	C2H2-type 5.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CAAGCCAATGGCCTCTCCATC	0.572													A	22843928	G	A	22843928	3	1	274	1	0	0	0	0	1	0	0	0	17539	1203	42	2	2850	2	ZBTB40	1	22843928	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	651630	22843928	226406693	22	139328											
C1QC	714	broad.mit.edu	37	chr1	22974052	22974052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactactttgtctaccacGcgtcgcatacagccaacctg	6	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:22974052G>A	uc001bgc.3	+	3	617	c.514G>A	c.(514-516)GCG>ACG	p.A172T	C1QC_uc001bga.3_Missense_Mutation_p.A172T|C1QC_uc001bgb.2_Missense_Mutation_p.A172T	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	172	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		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)	TGTCTACCACGCGTCGCATAC	0.572													A	22974052	G	A	22974052	3	1	274	1	0	0	0	0	1	0	0	0	1957	1087	38	1	520	1	C1QC	1	22974052	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	130124	22974052	226276569	23	139329											
RHD	6007	broad.mit.edu	37	chr1	25611170	25611170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacctcttcatgctggcGcttggtgtgcagtgggcaat	12	10	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:25611170G>A	uc001bjz.2	+	2	313	c.255G>A	c.(253-255)GCG>GCA	p.A85A	RHD_uc010oep.1_Silent_p.A85A|RHD_uc001bkc.2_Silent_p.A85A|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.A85A|RHD_uc001bkb.2_Silent_p.A85A|RHD_uc009vrn.2_Silent_p.A85A|RHD_uc009vro.2_Silent_p.A85A|RHD_uc009vrp.2_Silent_p.A85A	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	85	Helical; (Potential).					integral to plasma membrane				breast(1)	1		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)		TCATGCTGGCGCTTGGTGTGC	0.577													A	25611170	G	A	25611170	2	1	274	1	0	0	0	0	0	0	0	1	13327	1074	38	1		1	RHD	1	25611170	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2637118	25611170	223639451	24	139330											
TMEM57	55219	broad.mit.edu	37	chr1	25818071	25818071	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcggcagctcgagattgcCcaaggtaggagaacgtgggc	16	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:25818071C>A	uc001bkk.2	+	10	1990	c.1788C>A	c.(1786-1788)GCC>GCA	p.A596A	TMEM57_uc009vru.2_Silent_p.A369A|TMEM57_uc009vrv.2_Silent_p.A238A	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	596						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCGAGATTGCCCAAGGTAGGA	0.562													A	25818071	C	A	25818071	2	1	274	1	0	0	0	0	0	0	0	1	16181	610	22	5		5	TMEM57	1	25818071	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	206901	25818071	223432550	25	139331											
LDLRAP1	26119	broad.mit.edu	37	chr1	25880532	25880532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggagctgtcggccgccGccatcaagaggatcgtggct	16	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:25880532G>A	uc001bkl.3	+	2	322	c.208G>A	c.(208-210)GCC>ACC	p.A70T		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein	70	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GTCGGCCGCCGCCATCAAGAG	0.642													A	25880532	G	A	25880532	3	1	274	1	0	0	0	0	1	0	0	0	8708	1087	38	1	214	1	LDLRAP1	1	25880532	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	62461	25880532	223370089	26	139332											
MAN1C1	57134	broad.mit.edu	37	chr1	26104649	26104649	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggggctgacctacattgcCgagtggcgaggggggattct	19	8	1	1	rs144169583		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:26104649C>A	uc001bkm.2	+	9	1641	c.1311C>A	c.(1309-1311)GCC>GCA	p.A437A	MAN1C1_uc009vry.1_Silent_p.A257A|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	437	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTACATTGCCGAGTGGCGAG	0.627													A	26104649	C	A	26104649	2	1	274	1	0	0	0	0	0	0	0	1	9213	639	23	5		5	MAN1C1	1	26104649	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	224117	26104649	223145972	27	139333											
CNKSR1	10256	broad.mit.edu	37	chr1	26516001	26516001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcactcccatctctgccccCtgacctcagagagcagcctc	7	19	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:26516001C>A	uc001bln.3	+	21	2183	c.2125C>A	c.(2125-2127)CTG>ATG	p.L709M	CNKSR1_uc001blm.3_Missense_Mutation_p.L702M|CNKSR1_uc009vsd.2_Missense_Mutation_p.L444M|CNKSR1_uc009vse.2_Missense_Mutation_p.L444M|CNKSR1_uc001blo.2_Missense_Mutation_p.L444M|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	709					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		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)		TCTCTGCCCCCTGACCTCAGA	0.617													A	26516001	C	A	26516001	3	1	274	1	0	0	0	0	1	0	0	0	3606	680	24	5	2186	5	CNKSR1	1	26516001	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	411352	26516001	222734620	28	139334											
CATSPER4	378807	broad.mit.edu	37	chr1	26517892	26517892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaatgccatcaccatcGctctccgtaccaactcctac	4	17	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:26517892G>A	uc010oez.1	+	2	328	c.328G>A	c.(328-330)GCT>ACT	p.A110T	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	110	Helical; Name=Segment S1; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		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)		CATCACCATCGCTCTCCGTAC	0.428													A	26517892	G	A	26517892	3	1	274	1	0	0	0	0	1	0	0	0	2690	1087	38	1	334	1	CATSPER4	1	26517892	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1891	26517892	222732729	29	139335											
ARID1A	8289	broad.mit.edu	37	chr1	27106535	27106535	+	Frame_Shift_Del	DEL	G	G	-													ctgcaacaaagtggagtggtGgtgggactgcttggagatgc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:27106534_27106534TG>T	uc001bmv.1	+	19	6518	c.6145_6145TG>T	c.(6145-6147)tggfs	p.W2049fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.W1832fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.W895fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.W377fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.W291fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2049					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.W2048*(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)		AGTGGAGTGGTGGTGGGACTG	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106535	G	-	27106535	7	5	274	1	0	1	0	1	0	0	0	0	913	1357	47	0	6224	0	ARID1A	1	27106535	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	588643	27106535	222144086	30	139336											
MAP3K6	9064	broad.mit.edu	37	chr1	27685239	27685239	+	Frame_Shift_Del	DEL	G	G	-													gggctcccgagctcgtggaaGggggggcgacctgtggccat					rs34008139		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:27685238_27685238AG>A	uc001bny.1	-	18	2794	c.2545_2545CT>T	c.(2545-2547)ttcfs	p.F849fs	MAP3K6_uc009vsw.1_Frame_Shift_Del_p.F841fs|MAP3K6_uc001bnz.1_Frame_Shift_Del_p.F372fs	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	849	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding	p.F709fs*40(1)		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)		AGCTCGTGGAAGGGGGGGCGA	0.622													-	27685239	G	-	27685239	7	5	274	1	0	1	0	1	0	0	0	0	9254	987	35	0	1366	0	MAP3K6	1	27685239	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	578704	27685239	221565382	31	139337											
MAP3K6	9064	broad.mit.edu	37	chr1	27687237	27687237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgatggcgatgcgcacCctcgtgtggcgatcgcggcc	14	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:27687237C>T	uc001bny.1	-	15	2262	c.2013G>A	c.(2011-2013)AGG>AGA	p.R671R	MAP3K6_uc009vsw.1_Silent_p.R663R|MAP3K6_uc001bnz.1_Silent_p.R194R	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	671	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	p.L671V(1)		breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		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)		CGATGCGCACCCTCGTGTGGC	0.701													T	27687237	C	T	27687237	2	4	274	1	0	0	0	0	0	0	0	1	9254	622	22	4		4	MAP3K6	1	27687237	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1998	27687237	221563384	32	139338											
EPB41	2035	broad.mit.edu	37	chr1	29386935	29386935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctttcattttcacagaAaaagagagaaagactagatg	7	9	2	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:29386935A>G	uc001brm.1	+	14	1953	c.1946A>G	c.(1945-1947)AAA>AGA	p.K649R	EPB41_uc001brg.1_Missense_Mutation_p.K426R|EPB41_uc001brh.1_Missense_Mutation_p.K407R|EPB41_uc001bri.1_Intron|EPB41_uc001brj.1_Intron|EPB41_uc001brk.2_Missense_Mutation_p.K635R|EPB41_uc001brl.1_Missense_Mutation_p.K616R|EPB41_uc009vtl.1_Intron|EPB41_uc009vtm.1_Intron	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	649	Spectrin--actin-binding.				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			ovary(1)	1		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)		TTTTCACAGAAAAAGAGAGAA	0.313													G	29386935	A	G	29386935	3	3	274	1	0	0	0	0	1	0	0	0	5151	28	1	3	2000	3	EPB41	1	29386935	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1699698	29386935	219863686	33	139339											
PTPRU	10076	broad.mit.edu	37	chr1	29586016	29586016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcaacgcgggccagaaCgcgtcgttccagtgcatggc	15	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:29586016C>T	uc001bru.2	+	5	725	c.615C>T	c.(613-615)AAC>AAT	p.N205N	PTPRU_uc001brv.2_Silent_p.N205N|PTPRU_uc001brw.2_Silent_p.N205N|PTPRU_uc009vtq.2_Silent_p.N205N|PTPRU_uc009vtr.2_Silent_p.N205N	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	205	Extracellular (Potential).|Ig-like C2-type.				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		CGGGCCAGAACGCGTCGTTCC	0.692													T	29586016	C	T	29586016	2	4	274	1	0	0	0	0	0	0	0	1	12813	535	19	1		1	PTPRU	1	29586016	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	199081	29586016	219664605	34	139340											
PTPRU	10076	broad.mit.edu	37	chr1	29650282	29650282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagagtggggatgggcGcaccatcgtgcactgcctgt	17	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:29650282G>A	uc001bru.2	+	29	4234	c.4124G>A	c.(4123-4125)CGC>CAC	p.R1375H	PTPRU_uc001brv.2_Missense_Mutation_p.R1371H|PTPRU_uc001brw.2_Missense_Mutation_p.R1365H|PTPRU_uc009vtq.2_Missense_Mutation_p.R1369H|PTPRU_uc009vtr.2_Missense_Mutation_p.R1362H|PTPRU_uc001brx.2_Missense_Mutation_p.R101H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1375	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		GGGGATGGGCGCACCATCGTG	0.642													A	29650282	G	A	29650282	3	1	274	1	0	0	0	0	1	0	0	0	12813	1087	38	1	4260	1	PTPRU	1	29650282	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	64266	29650282	219600339	35	139341											
SDC3	9672	broad.mit.edu	37	chr1	31347370	31347370	+	Frame_Shift_Del	DEL	C	C	-													agctcgaagtctccactgggCcccccactcaccggaacctc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:31347369_31347369GC>G	uc001bse.2	-	3	984	c.937_937GC>C	c.(937-939)cccfs	p.P313fs	SDC3_uc001bsd.2_Frame_Shift_Del_p.P255fs	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	313						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)		TCTCCACTGGGCCCCCCACTC	0.607													-	31347370	C	-	31347370	7	5	274	1	0	1	0	1	0	0	0	0	13953	726	26	0	400	0	SDC3	1	31347370	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1697088	31347370	217903251	36	139342											
COL16A1	1307	broad.mit.edu	37	chr1	32131489	32131489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcgtcactcacctggtcGcccttctcaccggagttacc	8	17	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:32131489G>A	uc001btk.1	-	54	3815	c.3450C>T	c.(3448-3450)GGC>GGT	p.G1150G	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.G948G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1150	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCACCTGGTCGCCCTTCTCAC	0.607													A	32131489	G	A	32131489	2	1	274	1	0	0	0	0	0	0	0	1	3673	1074	38	1		1	COL16A1	1	32131489	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	784119	32131489	217119132	37	139343											
TMEM39B	55116	broad.mit.edu	37	chr1	32557330	32557330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgacctccgcaagacaagCctcttcaaccacatggcctc	7	17	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:32557330C>T	uc010ogv.1	+	6	791	c.645C>T	c.(643-645)AGC>AGT	p.S215S	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Silent_p.S88S|TMEM39B_uc001bue.3_Silent_p.S216S|TMEM39B_uc001buf.3_Silent_p.S16S|TMEM39B_uc010ogw.1_Silent_p.S16S	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	215						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCAAGACAAGCCTCTTCAACC	0.632													T	32557330	C	T	32557330	2	4	274	1	0	0	0	0	0	0	0	1	16159	738	26	2		2	TMEM39B	1	32557330	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	425841	32557330	216693291	38	139344											
IQCC	55721	broad.mit.edu	37	chr1	32673633	32673633	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaaggcaggctgtacaGgagaggaacagtggaggggc	17	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:32673633G>T	uc001bum.2	+	5	1398	c.1351G>T	c.(1351-1353)GGA>TGA	p.G451*	IQCC_uc009vua.2_Nonsense_Mutation_p.G531*|IQCC_uc010ogz.1_Nonsense_Mutation_p.G351*|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	451										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGCTGTACAGGAGAGGAACA	0.498													T	32673633	G	T	32673633	4	4	274	1	0	0	0	0	0	1	0	0	7804	1001	35	5	1609	5	IQCC	1	32673633	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	116303	32673633	216576988	39	139345											
DLGAP3	58512	broad.mit.edu	37	chr1	35331731	35331731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagatctcgatgctgtcggCgctctcggtggccgagctgt	15	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:35331731C>T	uc001byc.2	-	10	2893	c.2893G>A	c.(2893-2895)GCC>ACC	p.A965T		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	965					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				ATGCTGTCGGCGCTCTCGGTG	0.507													T	35331731	C	T	35331731	3	4	274	1	0	0	0	0	1	0	0	0	4561	768	27	1	50	1	DLGAP3	1	35331731	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2658098	35331731	213918890	40	139346											
ZC3H12A	80149	broad.mit.edu	37	chr1	37941105	37941105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtctgagctatgagtgGcccctgtggagagaagcctg	16	8	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:37941105G>A	uc001cbb.3	+	2	158	c.8G>A	c.(7-9)GGC>GAC	p.G3D		NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	3					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTATGAGTGGCCCCTGTGGA	0.607													A	37941105	G	A	37941105	3	1	274	1	0	0	0	0	1	0	0	0	17558	1203	42	2	10	2	ZC3H12A	1	37941105	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2609374	37941105	211309516	41	139347											
INPP5B	3633	broad.mit.edu	37	chr1	38330097	38330097	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggagagtagaaatgaccTgaaagaggaagaaccgggat	16	4	0	6			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:38330097T>C	uc001ccg.1	-	23	2609	c.2515_splice	c.e23-1	p.V839_splice	INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Splice_Site_p.V675_splice	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa						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			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAAATGACCTGAAAGAGGAA	0.393													C	38330097	T	C	38330097	5	2	274	1	0	0	0	0	0	0	1	0	7755	1594	55	3	236	3	INPP5B	1	38330097	Splice_Site	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	388992	38330097	210920524	42	139348											
HPCAL4	51440	broad.mit.edu	37	chr1	40149645	40149645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccaggcgcgtgatgcgCccgtcgccgtccaggtcgta	13	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:40149645C>T	uc001cdr.2	-	3	462	c.342G>A	c.(340-342)GGG>GGA	p.G114G	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	114	EF-hand 3.|2 (Potential).				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-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;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)			GCGTGATGCGCCCGTCGCCGT	0.682													T	40149645	C	T	40149645	2	4	274	1	0	0	0	0	0	0	0	1	7331	726	26	2		2	HPCAL4	1	40149645	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1819548	40149645	209100976	43	139349											
MYCL1	4610	broad.mit.edu	37	chr1	40363267	40363267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcattccgcctcttgCgctccaggaagttgtgattc	11	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:40363267C>T	uc001cer.1	-	3	1089	c.872G>A	c.(871-873)CGC>CAC	p.R291H	MYCL1_uc001ces.1_Missense_Mutation_p.R291H	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	291	Basic motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGCCTCTTGCGCTCCAGGAA	0.577			A		small cell lung 								T	40363267	C	T	40363267	3	4	274	1	0	0	0	0	1	0	0	0	10020	768	27	1	226	1	MYCL1	1	40363267	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	213622	40363267	208887354	44	139350											
MYCL1	4610	broad.mit.edu	37	chr1	40366677	40366677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcccagcggacagggggCggcgggcgccgggttgccgg	21	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:40366677C>T	uc001cer.1	-	2	647	c.430G>A	c.(430-432)GCC>ACC	p.A144T	MYCL1_uc001ces.1_Missense_Mutation_p.A144T|MYCL1_uc001cet.1_Missense_Mutation_p.A144T	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	144						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGACAGGGGGCGGCGGGCGCC	0.761			A		small cell lung 								T	40366677	C	T	40366677	3	4	274	1	0	0	0	0	1	0	0	0	10020	768	27	1	797	1	MYCL1	1	40366677	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3410	40366677	208883944	45	139351											
SCMH1	22955	broad.mit.edu	37	chr1	41540998	41540998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttgggtgtccggccccGcttctttcctggtttacgcc	12	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:41540998G>A	uc001cgo.2	-	9	1152	c.841C>T	c.(841-843)CGG>TGG	p.R281W	SCMH1_uc010ojr.1_Missense_Mutation_p.R123W|SCMH1_uc001cgp.2_Missense_Mutation_p.R220W|SCMH1_uc001cgr.2_Missense_Mutation_p.R220W|SCMH1_uc001cgs.2_Missense_Mutation_p.R291W|SCMH1_uc001cgt.2_Missense_Mutation_p.R220W|SCMH1_uc001cgq.2_Missense_Mutation_p.R234W|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	281					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTCCGGCCCCGCTTCTTTCCT	0.537													A	41540998	G	A	41540998	3	1	274	1	0	0	0	0	1	0	0	0	13908	1086	38	1	1173	1	SCMH1	1	41540998	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1174321	41540998	207709623	46	139352											
TIE1	7075	broad.mit.edu	37	chr1	43783574	43783574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgtatatcgctattgAatatgccccctacgggaacc	7	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:43783574A>G	uc001ciu.2	+	17	2832	c.2753A>G	c.(2752-2754)GAA>GGA	p.E918G	TIE1_uc010oke.1_Missense_Mutation_p.E873G|TIE1_uc009vwq.2_Missense_Mutation_p.E874G|TIE1_uc010okg.1_Missense_Mutation_p.E563G	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	918	Cytoplasmic (Potential).|Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCGCTATTGAATATGCCCCC	0.522													G	43783574	A	G	43783574	3	3	274	1	0	0	0	0	1	0	0	0	15890	246	9	3	2819	3	TIE1	1	43783574	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2242576	43783574	205467047	47	139353											
MED8	112950	broad.mit.edu	37	chr1	43851888	43851888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttaaaggtctgcttgttcGgccggagacctgaagaaaaa	13	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:43851888G>A	uc001cjg.3	-	6	551	c.503C>T	c.(502-504)CCG>CTG	p.P168L	MED8_uc001cje.1_Missense_Mutation_p.P168L|MED8_uc001cjf.3_Missense_Mutation_p.P79L	NM_201542	NP_963836	Q96G25	MED8_HUMAN	mediator complex subunit 8 isoform 1	168					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGCTTGTTCGGCCGGAGACC	0.507													A	43851888	G	A	43851888	3	1	274	1	0	0	0	0	1	0	0	0	9453	1116	39	1	418	1	MED8	1	43851888	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	68314	43851888	205398733	48	139354											
KIAA0467	23334	broad.mit.edu	37	chr1	43914078	43914078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgactgcggctaggggggCgcctggccctggcagagctg	18	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:43914078C>T	uc001cjk.1	+	54	7657	c.7195C>T	c.(7195-7197)CGC>TGC	p.R2399C	KIAA0467_uc001cjl.1_Missense_Mutation_p.R387C	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3298						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTAGGGGGGCGCCTGGCCCT	0.652													T	43914078	C	T	43914078	3	4	274	1	0	0	0	0	1	0	0	0	8178	768	27	1	7401	1	KIAA0467	1	43914078	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	62190	43914078	205336543	49	139355											
PTPRF	5792	broad.mit.edu	37	chr1	44072062	44072062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccggggcttctacaaccGgcccctgtctccggacttga	10	16	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:44072062G>A	uc001cjr.2	+	20	3975	c.3635G>A	c.(3634-3636)CGG>CAG	p.R1212Q	PTPRF_uc001cjs.2_Missense_Mutation_p.R1203Q|PTPRF_uc001cju.2_Missense_Mutation_p.R590Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R772Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R672Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R438Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1212	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCTACAACCGGCCCCTGTCT	0.582													A	44072062	G	A	44072062	3	1	274	1	0	0	0	0	1	0	0	0	12801	1116	39	1	3705	1	PTPRF	1	44072062	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	157984	44072062	205178559	50	139356											
B4GALT2	8704	broad.mit.edu	37	chr1	44446847	44446847	+	Frame_Shift_Del	DEL	G	G	-													tgcgggatgagcagactgctGggggggacgctggagcgcgt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:44446846_44446846TG>T	uc010okl.2	+	1	177	c.101_101TG>T	c.(100-102)ctgfs	p.L34fs	B4GALT2_uc001clg.3_Frame_Shift_Del_p.L5fs|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Frame_Shift_Del_p.L5fs	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	5					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AGCAGACTGCTGGGGGGGACG	0.672													-	44446847	G	-	44446847	7	5	274	1	0	1	0	1	0	0	0	0	1271	1335	47	0	17	0	B4GALT2	1	44446847	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	374785	44446847	204803774	51	139357											
SLC6A9	6536	broad.mit.edu	37	chr1	44474227	44474227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaagaagtagtagaaggCgatgcagatgaccacattgt	13	6	0	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:44474227C>T	uc001cll.2	-	5	799	c.607G>A	c.(607-609)GCC>ACC	p.A203T	SLC6A9_uc009vxe.2_Missense_Mutation_p.A59T|SLC6A9_uc010okm.1_Missense_Mutation_p.A130T|SLC6A9_uc001clm.2_Missense_Mutation_p.A149T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.A134T|SLC6A9_uc001cln.2_Missense_Mutation_p.A130T|SLC6A9_uc010oko.1_Missense_Mutation_p.A19T|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	203	Helical; Name=3; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TAGTAGAAGGCGATGCAGATG	0.587													T	44474227	C	T	44474227	3	4	274	1	0	0	0	0	1	0	0	0	14691	768	27	1	1553	1	SLC6A9	1	44474227	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	27380	44474227	204776394	52	139358											
MUTYH	4595	broad.mit.edu	37	chr1	45797368	45797368	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagcagaatttgggccCcaagggccccaggctgttcc	12	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:45797368C>A	uc001cnm.2	-	12	1358	c.1142G>T	c.(1141-1143)GGG>GTG	p.G381V	MUTYH_uc009vxn.2_Missense_Mutation_p.G206V|MUTYH_uc001cnf.2_Missense_Mutation_p.G356V|MUTYH_uc009vxo.2_Missense_Mutation_p.G356V|MUTYH_uc001cng.2_Missense_Mutation_p.G367V|MUTYH_uc001cnj.2_Missense_Mutation_p.G264V|MUTYH_uc001cni.2_Missense_Mutation_p.G356V|MUTYH_uc001cnh.2_Missense_Mutation_p.G357V|MUTYH_uc001cno.2_Missense_Mutation_p.G264V|MUTYH_uc001cnk.2_Missense_Mutation_p.G241V|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.G370V|MUTYH_uc009vxp.2_Missense_Mutation_p.G384V|MUTYH_uc001cnn.2_Missense_Mutation_p.G371V	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	381	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					AATTTGGGCCCCAAGGGCCCC	0.612			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				A	45797368	C	A	45797368	3	1	274	1	0	0	0	0	1	0	0	0	9993	623	22	5	518	5	MUTYH	1	45797368	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1323141	45797368	203453253	53	139359											
MMACHC	25974	broad.mit.edu	37	chr1	45973942	45973942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtgcaccccaaccgacGccccaagatcctggcccaga	10	18	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:45973942G>A	uc009vxv.2	+	3	484	c.335G>A	c.(334-336)CGC>CAC	p.R112H	MMACHC_uc001cny.2_RNA	NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency)	112							cobalamin binding				0	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAACCGACGCCCCAAGATC	0.562													A	45973942	G	A	45973942	3	1	274	1	0	0	0	0	1	0	0	0	9641	1087	38	1	345	1	MMACHC	1	45973942	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	176574	45973942	203276679	54	139360											
CCDC17	149483	broad.mit.edu	37	chr1	46086449	46086449	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggattgatctctgccagtgtCtgtacagctgcatctcttgc	10	11	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:46086449C>T	uc010olt.1	-	12	1804	c.1656G>A	c.(1654-1656)CAG>CAA	p.Q552Q	CCDC17_uc009vxy.2_Silent_p.Q520Q|CCDC17_uc010ols.1_Silent_p.Q543Q|CCDC17_uc001com.3_Silent_p.Q373Q|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	552										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTGCCAGTGTCTGTACAGCTG	0.542													T	46086449	C	T	46086449	2	4	274	1	0	0	0	0	0	0	0	1	2793	912	32	4		4	CCDC17	1	46086449	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	112507	46086449	203164172	55	139361											
SLC5A9	200010	broad.mit.edu	37	chr1	48701405	48701405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtctctccccaggtctGcgggggctgatgattgccgt	13	14	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:48701405G>A	uc001cro.2	+	10	1198	c.1146G>A	c.(1144-1146)CTG>CTA	p.L382L	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.L407L|SLC5A9_uc010omt.1_Silent_p.L396L|SLC5A9_uc001crp.2_Silent_p.L49L|SLC5A9_uc010omu.1_Silent_p.L49L	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	382	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCCCAGGTCTGCGGGGGCTGA	0.582													A	48701405	G	A	48701405	2	1	274	1	0	0	0	0	0	0	0	1	14672	1306	46	2		2	SLC5A9	1	48701405	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2614956	48701405	200549216	56	139362											
C1orf177	163747	broad.mit.edu	37	chr1	55279487	55279487	+	Splice_Site	DEL	A	A	-													tttttctctctttttcttagAaaaaaaagcccagggaactg					rs76967836		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:55279486_55279486GA>G	uc001cyb.4	+	7	817	c.763_splice	c.e7-1	p.K255_splice	C1orf177_uc001cya.4_Splice_Site_p.K255_splice	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	255										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CTTTTTCTTAGAAAAAAAAGC	0.413													-	55279487	A	-	55279487	8	5	274	1	0	1	0	1	0	0	1	0	2017	260	9	0	789	0	C1orf177	1	55279487	Splice_Site	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	6578082	55279487	193971134	57	139363											
C8B	732	broad.mit.edu	37	chr1	57420464	57420464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtctccacagtcattgTccccattgcaaagaagtctg	8	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:57420464T>C	uc001cyp.2	-	4	495	c.428A>G	c.(427-429)GAC>GGC	p.D143G	C8B_uc010oon.1_Missense_Mutation_p.D81G|C8B_uc010ooo.1_Missense_Mutation_p.D91G	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	143	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						ACAGTCATTGTCCCCATTGCA	0.433													C	57420464	T	C	57420464	3	2	274	1	0	0	0	0	1	0	0	0	2417	1667	58	3	1383	3	C8B	1	57420464	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2140977	57420464	191830157	58	139364											
DAB1	1600	broad.mit.edu	37	chr1	57476396	57476396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgtggacttatattaTcaccactgggctccccactg	9	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:57476396T>C	uc001cys.1	-	16	2314	c.1640A>G	c.(1639-1641)GAT>GGT	p.D547G	DAB1_uc001cyt.1_Missense_Mutation_p.D545G|DAB1_uc001cyq.1_Missense_Mutation_p.D545G|DAB1_uc001cyr.1_Missense_Mutation_p.D461G|DAB1_uc009vzw.1_Missense_Mutation_p.D529G|DAB1_uc009vzx.1_Missense_Mutation_p.D547G	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	580					cell differentiation|nervous system development					skin(2)|ovary(1)	3						ACTTATATTATCACCACTGGG	0.458													C	57476396	T	C	57476396	3	2	274	1	0	0	0	0	1	0	0	0	4217	1435	50	3	31	3	DAB1	1	57476396	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	55932	57476396	191774225	59	139365											
JUN	3725	broad.mit.edu	37	chr1	59247823	59247823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgactttctgtttaagcTgtgccacctgttccctgagc	8	12	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:59247823T>C	uc001cze.2	-	1	1963	c.920A>G	c.(919-921)CAG>CGG	p.Q307R	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	307	Leucine-zipper.				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				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CTGTTTAAGCTGTGCCACCTG	0.532			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	59247823	T	C	59247823	3	2	274	1	0	0	0	0	1	0	0	0	7969	1580	55	3	79	3	JUN	1	59247823	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1771427	59247823	190002798	60	139366											
INADL	10207	broad.mit.edu	37	chr1	62455951	62455951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaataaagaccgatcacGcatgagcatatttgtggtgg	12	6	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:62455951G>A	uc001dab.2	+	28	3896	c.3782G>A	c.(3781-3783)CGC>CAC	p.R1261H	INADL_uc009waf.1_Missense_Mutation_p.R1261H|INADL_uc001daa.2_Missense_Mutation_p.R1261H|INADL_uc001dad.3_Missense_Mutation_p.R958H|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.R45H|INADL_uc009wag.2_Missense_Mutation_p.R45H|INADL_uc010oou.1_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1261	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GACCGATCACGCATGAGCATA	0.453													A	62455951	G	A	62455951	3	1	274	1	0	0	0	0	1	0	0	0	7731	1087	38	1	3888	1	INADL	1	62455951	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3208128	62455951	186794670	61	139367											
INADL	10207	broad.mit.edu	37	chr1	62550223	62550223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcagtggaccccgcaaCgtgtcccattgtccctggac	10	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:62550223C>T	uc001dab.2	+	33	4394	c.4280C>T	c.(4279-4281)ACG>ATG	p.T1427M	INADL_uc009waf.1_Missense_Mutation_p.T1427M|INADL_uc001daa.2_Missense_Mutation_p.T1427M|INADL_uc001dad.3_Missense_Mutation_p.T1124M|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.T211M|INADL_uc009wag.2_Missense_Mutation_p.T211M|INADL_uc010oou.1_Missense_Mutation_p.T100M	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1427					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GACCCCGCAACGTGTCCCATT	0.512													T	62550223	C	T	62550223	3	4	274	1	0	0	0	0	1	0	0	0	7731	536	19	1	4406	1	INADL	1	62550223	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	94272	62550223	186700398	62	139368											
ANGPTL3	27329	broad.mit.edu	37	chr1	63070402	63070402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggagaagaggattaTcttggaagtctcaaaatgga	13	4	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:63070402T>C	uc001das.1	+	7	1348	c.1297T>C	c.(1297-1299)TCT>CCT	p.S433P	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	433	Fibrinogen C-terminal.				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				0						AAGAGGATTATCTTGGAAGTC	0.378													C	63070402	T	C	63070402	3	2	274	1	0	0	0	0	1	0	0	0	615	1435	50	3	1323	3	ANGPTL3	1	63070402	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	520179	63070402	186180219	63	139369											
SLC44A5	204962	broad.mit.edu	37	chr1	75740675	75740675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctggccacaaaagtgGccctggctgtctgtaggata	11	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:75740675G>A	uc001dgu.2	-	6	372	c.228C>T	c.(226-228)GGC>GGT	p.G76G	SLC44A5_uc001dgt.2_Silent_p.G76G|SLC44A5_uc001dgs.2_Silent_p.G34G|SLC44A5_uc001dgr.2_Silent_p.G34G|SLC44A5_uc010oqz.1_Silent_p.G115G|SLC44A5_uc010ora.1_Silent_p.G70G|SLC44A5_uc010orb.1_Intron	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	76	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						CACAAAAGTGGCCCTGGCTGT	0.478													A	75740675	G	A	75740675	2	1	274	1	0	0	0	0	0	0	0	1	14639	1190	42	2		2	SLC44A5	1	75740675	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	12670273	75740675	173509946	64	139370											
ACADM	34	broad.mit.edu	37	chr1	76215155	76215155	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctagaggaattgtcttcgaaGatgtgaaagtgcctaaagaa	11	5	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:76215155G>T	uc001dgw.3	+	9	1190	c.760G>T	c.(760-762)GAT>TAT	p.D254Y	ACADM_uc010ord.1_Missense_Mutation_p.D168Y|ACADM_uc009wbp.2_Missense_Mutation_p.D258Y|ACADM_uc009wbr.2_Missense_Mutation_p.D287Y|ACADM_uc010ore.1_Missense_Mutation_p.D218Y|ACADM_uc010orf.1_Missense_Mutation_p.D65Y|ACADM_uc001dgx.3_Missense_Mutation_p.D168Y|ACADM_uc010org.1_Missense_Mutation_p.D124Y|ACADM_uc009wbs.1_RNA	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	254					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						TGTCTTCGAAGATGTGAAAGT	0.348													T	76215155	G	T	76215155	3	4	274	1	0	0	0	0	1	0	0	0	113	942	33	5	806	5	ACADM	1	76215155	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	474480	76215155	173035466	65	139371											
GIPC2	54810	broad.mit.edu	37	chr1	78585146	78585146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggaagggcaacacttcGcctgagatcaaaaggtcctg	12	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:78585146G>A	uc001dik.2	+	4	867	c.677G>A	c.(676-678)CGC>CAC	p.R226H		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	PDZ domain protein GIPC2	226						cytoplasm				ovary(1)	1						GCAACACTTCGCCTGAGATCA	0.398													A	78585146	G	A	78585146	3	1	274	1	0	0	0	0	1	0	0	0	6393	1087	38	1	691	1	GIPC2	1	78585146	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2369991	78585146	170665475	66	139372											
LPHN2	23266	broad.mit.edu	37	chr1	82456582	82456582	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatacaagcatgcccaatcTtagagactctccctatccgg	6	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:82456582T>G	uc001dit.3	+	21	4146	c.3965T>G	c.(3964-3966)CTT>CGT	p.L1322R	LPHN2_uc001dis.2_Missense_Mutation_p.L302R|LPHN2_uc001diu.2_Missense_Mutation_p.L1322R|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.L949R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1378	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGCCCAATCTTAGAGACTCT	0.468													G	82456582	T	G	82456582	3	3	274	1	0	0	0	0	1	0	0	0	8916	1609	56	5	4039	5	LPHN2	1	82456582	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3871436	82456582	166794039	67	139373											
COL24A1	255631	broad.mit.edu	37	chr1	86515849	86515849	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccgcttctccaggagaGccaataaaacccttaaaaca	6	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:86515849G>T	uc001dlj.2	-	11	1905	c.1863C>A	c.(1861-1863)GGC>GGA	p.G621G	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.G621G	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	621					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTCCAGGAGAGCCAATAAAAC	0.343													T	86515849	G	T	86515849	2	4	274	1	0	0	0	0	0	0	0	1	3683	958	34	5		5	COL24A1	1	86515849	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4059267	86515849	162734772	68	139374											
PKN2	5586	broad.mit.edu	37	chr1	89237165	89237165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcatcattttaggatAgagtttgcagtagcagaagg	12	4	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:89237165A>G	uc001dmn.2	+	5	1026	c.684A>G	c.(682-684)ATA>ATG	p.I228M	PKN2_uc001dmm.1_Missense_Mutation_p.I228M|PKN2_uc010osp.1_Missense_Mutation_p.I228M|PKN2_uc010osq.1_Missense_Mutation_p.I71M|PKN2_uc009wcv.2_Missense_Mutation_p.I228M	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	228	REM 3.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ATTTTAGGATAGAGTTTGCAG	0.323													G	89237165	A	G	89237165	3	3	274	1	0	0	0	0	1	0	0	0	11980	410	15	3	702	3	PKN2	1	89237165	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2721316	89237165	160013456	69	139375											
LRRC8D	55144	broad.mit.edu	37	chr1	90399442	90399442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgattgaagttcccaGcatgacaatcctggataaaa	9	9	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:90399442G>A	uc001dnm.2	+	3	1240	c.815G>A	c.(814-816)AGC>AAC	p.S272N	LRRC8D_uc001dnn.2_Missense_Mutation_p.S272N	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	272						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GAAGTTCCCAGCATGACAATC	0.458													A	90399442	G	A	90399442	3	1	274	1	0	0	0	0	1	0	0	0	9024	971	34	2	817	2	LRRC8D	1	90399442	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1162277	90399442	158851179	70	139376											
HFM1	164045	broad.mit.edu	37	chr1	91727836	91727836	+	Frame_Shift_Del	DEL	A	A	-													ttacattcactgtttctaatAaaaaaatccacttttttata							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:91727835_91727835TA>T	uc001doa.4	-	37	4300	c.4201_4201TA>A	c.(4201-4203)attfs	p.I1401fs	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Frame_Shift_Del_p.I1080fs|HFM1_uc001dob.4_Frame_Shift_Del_p.I589fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1401							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)		CTGTTTCTAATAAAAAAATCC	0.269													-	91727836	A	-	91727836	7	5	274	1	0	1	0	1	0	0	0	0	7083	359	13	0	115	0	HFM1	1	91727836	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	1328394	91727836	157522785	71	139377											
LPPR4	9890	broad.mit.edu	37	chr1	99771789	99771789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagtacctcaaaatccaGcctggcgctgtccccggatg	9	14	2	0	rs148412092		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:99771789G>A	uc001dse.2	+	7	1621	c.1515G>A	c.(1513-1515)CAG>CAA	p.Q505Q	LPPR4_uc010oue.1_Silent_p.Q447Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	505							phosphatidate phosphatase activity			ovary(3)	3		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)		TCAAAATCCAGCCTGGCGCTG	0.567													A	99771789	G	A	99771789	2	1	274	1	0	0	0	0	0	0	0	1	8927	962	34	2		2	LPPR4	1	99771789	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8043953	99771789	149478832	72	139378											
LPPR4	9890	broad.mit.edu	37	chr1	99771907	99771907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagactcaggaaaacataAgcacctcccccaaaagcagc	8	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:99771907A>C	uc001dse.2	+	7	1739	c.1633A>C	c.(1633-1635)AGC>CGC	p.S545R	LPPR4_uc010oue.1_Missense_Mutation_p.S487R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	545							phosphatidate phosphatase activity			ovary(3)	3		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)		GGAAAACATAAGCACCTCCCC	0.537													C	99771907	A	C	99771907	3	2	274	1	0	0	0	0	1	0	0	0	8927	72	3	5	1659	5	LPPR4	1	99771907	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	118	99771907	149478714	73	139379											
PALMD	54873	broad.mit.edu	37	chr1	100154805	100154805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgccagtgcctcatccccGatcagtgattcaacaagcag	8	15	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100154805G>A	uc001dsg.2	+	7	1432	c.989G>A	c.(988-990)CGA>CAA	p.R330Q	PALMD_uc001dsf.2_Missense_Mutation_p.R330Q	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	330					regulation of cell shape	cytoplasm|membrane				ovary(2)|pancreas(1)	3		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCTCATCCCCGATCAGTGATT	0.468													A	100154805	G	A	100154805	3	1	274	1	0	0	0	0	1	0	0	0	11411	1058	37	1	1015	1	PALMD	1	100154805	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	382898	100154805	149095816	74	139380											
AGL	178	broad.mit.edu	37	chr1	100347173	100347173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccatcagtctgttgtggCtgtatctagaactgctttca	8	10	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100347173C>A	uc001dsi.1	+	17	2634	c.2234C>A	c.(2233-2235)GCT>GAT	p.A745D	AGL_uc001dsj.1_Missense_Mutation_p.A745D|AGL_uc001dsk.1_Missense_Mutation_p.A745D|AGL_uc001dsl.1_Missense_Mutation_p.A745D|AGL_uc001dsm.1_Missense_Mutation_p.A729D|AGL_uc001dsn.1_Missense_Mutation_p.A728D	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	745	4-alpha-glucanotransferase.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		TCTGTTGTGGCTGTATCTAGA	0.418													A	100347173	C	A	100347173	3	1	274	1	0	0	0	0	1	0	0	0	384	797	28	5	2365	5	AGL	1	100347173	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	192368	100347173	148903448	75	139381											
AGL	178	broad.mit.edu	37	chr1	100378009	100378009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtaaatctgctgttcgCtggttgctggaattatccaa	10	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100378009C>T	uc001dsi.1	+	29	4285	c.3885C>T	c.(3883-3885)CGC>CGT	p.R1295R	AGL_uc001dsj.1_Silent_p.R1295R|AGL_uc001dsk.1_Silent_p.R1295R|AGL_uc001dsl.1_Silent_p.R1295R|AGL_uc001dsm.1_Silent_p.R1279R|AGL_uc001dsn.1_Silent_p.R1278R	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1295	4-alpha-glucanotransferase.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		CTGCTGTTCGCTGGTTGCTGG	0.338													T	100378009	C	T	100378009	2	4	274	1	0	0	0	0	0	0	0	1	384	784	28	2		2	AGL	1	100378009	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	30836	100378009	148872612	76	139382											
AGL	178	broad.mit.edu	37	chr1	100387188	100387188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaattgctactattcttgAgacactttatgatttatagt	6	6	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100387188A>G	uc001dsi.1	+	34	4980	c.4580A>G	c.(4579-4581)GAG>GGG	p.E1527G	AGL_uc001dsj.1_Missense_Mutation_p.E1527G|AGL_uc001dsk.1_Missense_Mutation_p.E1527G|AGL_uc001dsl.1_Missense_Mutation_p.E1527G|AGL_uc001dsm.1_Missense_Mutation_p.E1511G|AGL_uc001dsn.1_Missense_Mutation_p.E1510G	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1527	4-alpha-glucanotransferase.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		ACTATTCTTGAGACACTTTAT	0.378													G	100387188	A	G	100387188	3	3	274	1	0	0	0	0	1	0	0	0	384	304	11	3	4779	3	AGL	1	100387188	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	9179	100387188	148863433	77	139383											
DBT	1629	broad.mit.edu	37	chr1	100661908	100661908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatcaataactctgtgaTcagctgaccagctcacattc	5	14	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100661908T>C	uc001dta.2	-	11	1385	c.1352A>G	c.(1351-1353)GAT>GGT	p.D451G	DBT_uc010oug.1_Missense_Mutation_p.D270G	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	451					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACTCTGTGATCAGCTGACCA	0.323													C	100661908	T	C	100661908	3	2	274	1	0	0	0	0	1	0	0	0	4258	1435	50	3	100	3	DBT	1	100661908	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	274720	100661908	148588713	78	139384											
DBT	1629	broad.mit.edu	37	chr1	100684199	100684199	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacattgttttccattgccaGacggcgaactgcaggagttg	11	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100684199G>A	uc001dta.2	-	5	571	c.538C>T	c.(538-540)CTG>TTG	p.L180L	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	180					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCATTGCCAGACGGCGAACT	0.393													A	100684199	G	A	100684199	2	1	274	1	0	0	0	0	0	0	0	1	4258	933	33	4		4	DBT	1	100684199	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	22291	100684199	148566422	79	139385											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-													gcactcctgtctggctcaaaCcccccctatcttccattcag					rs138415707		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	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)		TCTGGCTCAAACCCCCCCTAT	0.403													-	100889837	C	-	100889837	7	5	274	1	0	1	0	1	0	0	0	0	3056	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	205638	100889837	148360784	80	139386											
VCAM1	7412	broad.mit.edu	37	chr1	101200253	101200253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcccagttgaaggatgCgggagtatatgaatgtgaat	14	4	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:101200253C>T	uc001dti.2	+	8	2108	c.1988C>T	c.(1987-1989)GCG>GTG	p.A663V	VCAM1_uc001dtj.2_Missense_Mutation_p.A571V|VCAM1_uc010ouj.1_Missense_Mutation_p.A601V	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	663	Ig-like C2-type 7.|Extracellular (Potential).				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(1)	1		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)	TTGAAGGATGCGGGAGTATAT	0.378													T	101200253	C	T	101200253	3	4	274	1	0	0	0	0	1	0	0	0	17134	768	27	1	2018	1	VCAM1	1	101200253	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	310416	101200253	148050368	81	139387											
COL11A1	1301	broad.mit.edu	37	chr1	103540264	103540264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacttctatcaagtggtttCgtggttttcttcttacaatc	6	9	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:103540264C>T	uc001dul.2	-	4	879	c.561G>A	c.(559-561)ACG>ACA	p.T187T	COL11A1_uc001dum.2_Silent_p.T187T|COL11A1_uc001dun.2_Silent_p.T187T|COL11A1_uc009weh.2_Silent_p.T187T	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	187	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CAAGTGGTTTCGTGGTTTTCT	0.358													T	103540264	C	T	103540264	2	4	274	1	0	0	0	0	0	0	0	1	3667	871	31	1		1	COL11A1	1	103540264	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2340011	103540264	145710357	82	139388											
COL11A1	1301	broad.mit.edu	37	chr1	103573669	103573670	+	Frame_Shift_Ins	INS	-	-	G													ggaagaggaaggtcaatgcgINSagggttgttacggtgaaatc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:103573668_103573669C>CG	uc001dum.3	-	0	384_385	c.66_67G>CG	c.(64-69)ctcgcafs	p.L22fs	COL11A1_uc001dul.3_Frame_Shift_Ins_p.L22fs|COL11A1_uc001dun.3_Frame_Shift_Ins_p.L22fs|COL11A1_uc009weh.3_Frame_Shift_Ins_p.L22fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	22					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.L22H(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)		AAGGTCAATGCGAGGGTTGTTA	0.55													G	103573670	-	G	103573669	7	5	274	1	0	1	1	0	0	0	0	0	3667	1045	37	0	5779	0	COL11A1	1	103573669	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	33405	103573669	145676952	83	139389											
AMY2B	280	broad.mit.edu	37	chr1	104114744	104114744	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttgtaggtctctccaccaAatgaaaatgttgcaattcac	6	9	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:104114744A>T	uc001duq.2	+	4	797	c.181A>T	c.(181-183)AAT>TAT	p.N61Y	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N61Y	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	61					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		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)		CTCTCCACCAAATGAAAATGT	0.313													T	104114744	A	T	104114744	3	4	274	1	0	0	0	0	1	0	0	0	595	14	1	5	187	5	AMY2B	1	104114744	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	541075	104114744	145135877	84	139390											
CELSR2	1952	broad.mit.edu	37	chr1	109814954	109814954	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctgtaccagccctacggaGactcggccggctctctgcac	12	16	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:109814954G>A	uc001dxa.3	+	29	8042	c.7981G>A	c.(7981-7983)GAC>AAC	p.D2661N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2661	Cytoplasmic (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		GCCCTACGGAGACTCGGCCGG	0.627													A	109814954	G	A	109814954	3	1	274	1	0	0	0	0	1	0	0	0	3222	942	33	4	8095	4	CELSR2	1	109814954	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5700210	109814954	139435667	85	139391											
RBM15	64783	broad.mit.edu	37	chr1	110884271	110884271	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaaaaaagaagaccgCtctgatgggagtgcacctag	11	10	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:110884271C>A	uc001dzl.1	+	1	2327	c.2244C>A	c.(2242-2244)CGC>CGA	p.R748R	RBM15_uc001dzm.1_Silent_p.R748R|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	748					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)		AAGAAGACCGCTCTGATGGGA	0.557			T	MKL1	acute megakaryocytic leukemia								A	110884271	C	A	110884271	2	1	274	1	0	0	0	0	0	0	0	1	13116	784	28	5		5	RBM15	1	110884271	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1069317	110884271	138366350	86	139392											
KCND3	3752	broad.mit.edu	37	chr1	112321089	112321089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggttcgtacagataacaggGgatcatccacaagataggac	11	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:112321089G>T	uc001ebu.1	-	6	1967	c.1487C>A	c.(1486-1488)CCC>CAC	p.P496H	KCND3_uc001ebv.1_Intron	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	496	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		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)		AGATAACAGGGGATCATCCAC	0.398													T	112321089	G	T	112321089	3	4	274	1	0	0	0	0	1	0	0	0	8020	1232	43	5	492	5	KCND3	1	112321089	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1436818	112321089	136929532	87	139393											
HIPK1	204851	broad.mit.edu	37	chr1	114512812	114512812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgcactgtagcaacccaGgcctcaggtcagtgttatct	10	12	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:114512812G>T	uc001eem.2	+	14	3167	c.3006G>T	c.(3004-3006)CAG>CAT	p.Q1002H	HIPK1_uc001eel.2_Missense_Mutation_p.Q1002H|HIPK1_uc001een.2_Missense_Mutation_p.Q1002H|HIPK1_uc001eeo.2_Missense_Mutation_p.Q628H|HIPK1_uc001eep.2_Missense_Mutation_p.Q608H|HIPK1_uc001eeq.2_Missense_Mutation_p.Q294H	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1002	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	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)		TAGCAACCCAGGCCTCAGGTC	0.478													T	114512812	G	T	114512812	3	4	274	1	0	0	0	0	1	0	0	0	7116	991	35	5	3074	5	HIPK1	1	114512812	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2191723	114512812	134737809	88	139394											
HIPK1	204851	broad.mit.edu	37	chr1	114515787	114515787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctacactcgacagggcacCcacaccttgccccggcccct	8	21	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:114515787C>A	uc001eem.2	+	16	3447	c.3286C>A	c.(3286-3288)CCA>ACA	p.P1096T	HIPK1_uc001een.2_Missense_Mutation_p.P1096T|HIPK1_uc001eeo.2_Missense_Mutation_p.P722T|HIPK1_uc001eep.2_Missense_Mutation_p.P702T|HIPK1_uc001eeq.2_Missense_Mutation_p.P388T	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	1096					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	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)		GACAGGGCACCCACACCTTGC	0.652													A	114515787	C	A	114515787	3	1	274	1	0	0	0	0	1	0	0	0	7116	623	22	5	3446	5	HIPK1	1	114515787	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2975	114515787	134734834	89	139395											
ADAM30	11085	broad.mit.edu	37	chr1	120438692	120438692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgtgaaggagaaaaCgcgcagatgtcggggcaaca	14	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120438692C>T	uc001eij.2	-	1	422	c.268G>A	c.(268-270)GTT>ATT	p.V90I		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	90					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	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)		AAGGAGAAAACGCGCAGATGT	0.517													T	120438692	C	T	120438692	3	4	274	1	0	0	0	0	1	0	0	0	248	536	19	1	2108	1	ADAM30	1	120438692	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5922905	120438692	128811929	90	139396											
NOTCH2	4853	broad.mit.edu	37	chr1	120458008	120458008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgacctcctccagcacccCcaggggtagggctggtggtc	14	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120458008C>A	uc001eik.2	-	34	7593	c.7337G>T	c.(7336-7338)GGG>GTG	p.G2446V		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2446	Cytoplasmic (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TCCAGCACCCCCAGGGGTAGG	0.582			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120458008	C	A	120458008	3	1	274	1	0	0	0	0	1	0	0	0	10548	623	22	5	82	5	NOTCH2	1	120458008	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	19316	120458008	128792613	91	139397											
NOTCH2	4853	broad.mit.edu	37	chr1	120479990	120479990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatcgagttgctcctcaCagtagctcccagtatagccc	7	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120479990C>T	uc001eik.2	-	21	3693	c.3437G>A	c.(3436-3438)TGT>TAT	p.C1146Y	NOTCH2_uc001eil.2_Missense_Mutation_p.C1146Y	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1146	EGF-like 29.|Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		TTGCTCCTCACAGTAGCTCCC	0.557			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				T	120479990	C	T	120479990	3	4	274	1	0	0	0	0	1	0	0	0	10548	478	17	4	4034	4	NOTCH2	1	120479990	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	21982	120479990	128770631	92	139398											
NOTCH2	4853	broad.mit.edu	37	chr1	120510772	120510772	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaggtgcaaatatattGcccatttagggggttggtgt	15	5	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:120510772G>A	uc001eik.2	-	7	1448	c.1192C>T	c.(1192-1194)CAA>TAA	p.Q398*	NOTCH2_uc001eil.2_Nonsense_Mutation_p.Q398*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.Q315*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	398	EGF-like 10.|Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		CAAATATATTGCCCATTTAGG	0.517			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)	A	120510772	G	A	120510772	4	1	274	1	0	0	0	0	0	1	0	0	10548	1328	46	2	6335	2	NOTCH2	1	120510772	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	30782	120510772	128739849	93	139399											
PDE4DIP	9659	broad.mit.edu	37	chr1	145039616	145039616	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtctgctccattttccaGgctctttccttagtctcagg	8	13	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:145039616G>T	uc001elx.3	-	1	329	c.-6C>A	c.(-8--4)GCCTG>GCATG		NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_Translation_Start_Site|PDE4DIP_uc001eln.3_Translation_Start_Site|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCATTTTCCAGGCTCTTTCCT	0.612			T	PDGFRB	MPD								T	145039616	G	T	145039616	1	4	274	1	0	0	0	0	0	0	0	0	11643	1015	35	5		5	PDE4DIP	1	145039616	Translation_Start_Site	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	24528844	145039616	104211005	94	139400											
ITGA10	8515	broad.mit.edu	37	chr1	145532147	145532147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcagtcccatgggggccGacccgaggctgccaggctac	14	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:145532147G>A	uc001eoa.2	+	8	867	c.791G>A	c.(790-792)CGA>CAA	p.R264Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R133Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R121Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R209Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	264	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGGGGGCCGACCCGAGGCT	0.488													A	145532147	G	A	145532147	3	1	274	1	0	0	0	0	1	0	0	0	7873	1058	37	1	821	1	ITGA10	1	145532147	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	492531	145532147	103718474	95	139401											
POLR3C	10623	broad.mit.edu	37	chr1	145594051	145594051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttacttgttgacattaCgtttcagggtctctagctgc	9	9	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:145594051C>T	uc001eoh.2	-	14	1672	c.1511G>A	c.(1510-1512)CGT>CAT	p.R504H	NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Missense_Mutation_p.R517H|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Intron	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	504					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GTTGACATTACGTTTCAGGGT	0.443													T	145594051	C	T	145594051	3	4	274	1	0	0	0	0	1	0	0	0	12230	536	19	1	101	1	POLR3C	1	145594051	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	61904	145594051	103656570	96	139402											
NBPF14	25832	broad.mit.edu	37	chr1	148015781	148015781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggccctttctcatccaGcagctctctgctgagcctgg	9	15	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:148015781G>A	uc001eqq.2	-	8	867	c.850C>T	c.(850-852)CTG>TTG	p.L284L	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqs.1_Silent_p.L163L	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	284	NBPF 3.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)					TTCTCATCCAGCAGCTCTCTG	0.483													A	148015781	G	A	148015781	2	1	274	1	0	0	0	0	0	0	0	1	10194	962	34	2		2	NBPF14	1	148015781	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2421730	148015781	101234840	97	139403											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131688	150131688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcagacagaccaccccGcacagtcagtaccggaagag	9	16	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:150131688G>A	uc001ett.2	+	6	1478	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	PLEKHO1_uc001etr.2_Silent_p.P228P|PLEKHO1_uc001ets.2_Silent_p.P217P|PLEKHO1_uc001etu.2_Silent_p.P228P	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	400	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|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)			AGACCACCCCGCACAGTCAGT	0.582													A	150131688	G	A	150131688	2	1	274	1	0	0	0	0	0	0	0	1	12084	1074	38	1		1	PLEKHO1	1	150131688	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2115907	150131688	99118933	98	139404											
C1orf51	148523	broad.mit.edu	37	chr1	150259051	150259051	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtactatctcctttagccaTggtcctttaggcactggaac	9	11	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:150259051T>C	uc001euh.2	+	6	979	c.843T>C	c.(841-843)CAT>CAC	p.H281H	C1orf51_uc001eui.2_Silent_p.H193H|C1orf51_uc001euj.2_Silent_p.H281H	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	281											0	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)			CCTTTAGCCATGGTCCTTTAG	0.562													C	150259051	T	C	150259051	2	2	274	1	0	0	0	0	0	0	0	1	2043	1461	51	3		3	C1orf51	1	150259051	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	127363	150259051	98991570	99	139405											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530584	150530584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccagtcttgccagctgCgcctctgtggccattgggaa	11	14	3	0	rs149442347	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:150530584C>T	uc001eux.2	+	14	2577	c.2341C>T	c.(2341-2343)CGC>TGC	p.R781C	ADAMTSL4_uc001euw.2_Missense_Mutation_p.R781C|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R804C|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R742C|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	781	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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)			TTGCCAGCTGCGCCTCTGTGG	0.647													T	150530584	C	T	150530584	3	4	274	1	0	0	0	0	1	0	0	0	277	768	27	1	2387	1	ADAMTSL4	1	150530584	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	271533	150530584	98720037	100	139406											
POGZ	23126	broad.mit.edu	37	chr1	151378679	151378679	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgggctcccttcatcctgAtcatcaacattcagacattc	5	14	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:151378679A>T	uc001eyd.1	-	19	3138	c.2832T>A	c.(2830-2832)GAT>GAA	p.D944E	POGZ_uc001eye.1_Missense_Mutation_p.D891E|POGZ_uc010pdb.1_Missense_Mutation_p.D935E|POGZ_uc001eyf.1_Missense_Mutation_p.D900E|POGZ_uc010pdc.1_Missense_Mutation_p.D882E|POGZ_uc009wmv.1_Missense_Mutation_p.D849E|POGZ_uc010pdd.1_Missense_Mutation_p.D435E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	944					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	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)			CTTCATCCTGATCATCAACAT	0.567													T	151378679	A	T	151378679	3	4	274	1	0	0	0	0	1	0	0	0	12186	330	12	5	1404	5	POGZ	1	151378679	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	848095	151378679	97871942	101	139407											
FLG	2312	broad.mit.edu	37	chr1	152279744	152279744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtccagagctgtcggcccGagaggaagcttcatggtgac	15	10	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152279744G>A	uc001ezu.1	-	3	7654	c.7618C>T	c.(7618-7620)CGG>TGG	p.R2540W		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2540	Ser-rich.|Filaggrin 15.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCGGCCCGAGAGGAAGCT	0.582									Ichthyosis				A	152279744	G	A	152279744	3	1	274	1	0	0	0	0	1	0	0	0	5922	1057	37	1	4571	1	FLG	1	152279744	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	901065	152279744	96970877	102	139408											
FLG	2312	broad.mit.edu	37	chr1	152279848	152279848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctggatcctgagtgcccaTgggaggcatcagaccttccc	11	13	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152279848T>C	uc001ezu.1	-	3	7550	c.7514A>G	c.(7513-7515)CAT>CGT	p.H2505R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2505	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCCATGGGAGGCATC	0.552									Ichthyosis				C	152279848	T	C	152279848	3	2	274	1	0	0	0	0	1	0	0	0	5922	1464	51	3	4675	3	FLG	1	152279848	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	104	152279848	96970773	103	139409											
FLG	2312	broad.mit.edu	37	chr1	152286813	152286814	+	Frame_Shift_Ins	INS	-	-	T													tttcagtcttgtttttctctINStttttacttgagttatgatg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152286812_152286813C>CT	uc001ezu.1	-	2	585_586	c.549_550G>AG	c.(547-552)aaagagfs	p.K183fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	183					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)			TTGTTTTTCTCTTTTTTACTTG	0.312									Ichthyosis				T	152286814	-	T	152286813	7	5	274	1	0	1	1	0	0	0	0	0	5922	1606	56	0	11640	0	FLG	1	152286813	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	6965	152286813	96963808	104	139410											
LCE3D	84648	broad.mit.edu	37	chr1	152552263	152552263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggttcaggaagcagccGccctcggagctagggccaca	15	12	1	0	rs139649941		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152552263G>A	uc001fab.2	-	2	207	c.150C>T	c.(148-150)GGC>GGT	p.G50G		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	50					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGAAGCAGCCGCCCTCGGAGC	0.672													A	152552263	G	A	152552263	2	1	274	1	0	0	0	0	0	0	0	1	8672	1074	38	1		1	LCE3D	1	152552263	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	265450	152552263	96698358	105	139411											
KPRP	448834	broad.mit.edu	37	chr1	152733277	152733277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccacctcctgctccaCgtccacgtctgcgcccagaa	8	18	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:152733277C>T	uc001fal.1	+	2	1271	c.1213C>T	c.(1213-1215)CGT>TGT	p.R405C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	405	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCTCCACGTCCACGTCT	0.572													T	152733277	C	T	152733277	3	4	274	1	0	0	0	0	1	0	0	0	8436	536	19	1	1215	1	KPRP	1	152733277	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	181014	152733277	96517344	106	139412											
AQP10	89872	broad.mit.edu	37	chr1	154295722	154295722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcctccacagatgccCtacagaactatacaggtggg	8	14	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:154295722C>A	uc001feu.2	+	4	416	c.376C>A	c.(376-378)CTA>ATA	p.L126I	AQP10_uc001fev.2_Missense_Mutation_p.L126I|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	126	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAGATGCCCTACAGAACTA	0.547													A	154295722	C	A	154295722	3	1	274	1	0	0	0	0	1	0	0	0	822	680	24	5	390	5	AQP10	1	154295722	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1562445	154295722	94954899	107	139413											
TDRD10	126668	broad.mit.edu	37	chr1	154517360	154517360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccctgtgcagtctctgcGcagcctagacagcgacgact	10	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:154517360G>A	uc009wow.2	+	11	1725	c.887G>A	c.(886-888)CGC>CAC	p.R296H	TDRD10_uc001ffd.2_Missense_Mutation_p.R296H|TDRD10_uc001ffe.2_Missense_Mutation_p.R217H	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	296	Tudor.						nucleotide binding|RNA binding			ovary(1)	1	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)			CAGTCTCTGCGCAGCCTAGAC	0.552													A	154517360	G	A	154517360	3	1	274	1	0	0	0	0	1	0	0	0	15728	1087	38	1	925	1	TDRD10	1	154517360	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	221638	154517360	94733261	108	139414											
THBS3	7059	broad.mit.edu	37	chr1	155172646	155172646	+	Frame_Shift_Del	DEL	G	G	-													tgccgttgccctgcaggccaGgggggcagggcccacagcgg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:155172645_155172645AG>A	uc001fix.3	-	7	1020	c.915_915CT>T	c.(913-915)cctfs	p.P305fs	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Frame_Shift_Del_p.P185fs|THBS3_uc009wqi.3_Frame_Shift_Del_p.P296fs|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	305	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)			CCTGCAGGCCAGGGGGGCAGG	0.617													-	155172646	G	-	155172646	7	5	274	1	0	1	0	1	0	0	0	0	15852	1000	35	0	2020	0	THBS3	1	155172646	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	655286	155172646	94077975	109	139415											
FDPS	2224	broad.mit.edu	37	chr1	155290383	155290383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcttgcgcgcaaaatcTacaagcggagaaagtgacct	13	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:155290383T>C	uc001fkc.2	+	11	1462	c.1243T>C	c.(1243-1245)TAC>CAC	p.Y415H	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y349H|FDPS_uc001fke.2_Missense_Mutation_p.Y415H|FDPS_uc001fkf.2_Missense_Mutation_p.Y349H|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	415					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GCGCAAAATCTACAAGCGGAG	0.517													C	155290383	T	C	155290383	3	2	274	1	0	0	0	0	1	0	0	0	5803	1522	53	3	1281	3	FDPS	1	155290383	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	117737	155290383	93960238	110	139416											
ASH1L	55870	broad.mit.edu	37	chr1	155450513	155450513	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accactttagtccaccgaggTtttcttccttttcttttttt	4	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:155450513T>G	uc009wqq.2	-	3	2628	c.2148A>C	c.(2146-2148)AAA>AAC	p.K716N	ASH1L_uc001fkt.2_Missense_Mutation_p.K716N|ASH1L_uc009wqr.1_Missense_Mutation_p.K716N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	716					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TCCACCGAGGTTTTCTTCCTT	0.418													G	155450513	T	G	155450513	3	3	274	1	0	0	0	0	1	0	0	0	1041	1722	60	5	6850	5	ASH1L	1	155450513	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	160130	155450513	93800108	111	139417											
MEX3A	92312	broad.mit.edu	37	chr1	156046580	156046580	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagtttagagaagccctGgagcggctctcccggggggc	15	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:156046580G>A	uc001fnd.3	-	2	1348	c.1348C>T	c.(1348-1350)CAG>TAG	p.Q450*		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	450						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GAGAAGCCCTGGAGCGGCTCT	0.741													A	156046580	G	A	156046580	4	1	274	1	0	0	0	0	0	1	0	0	9509	1357	47	4	218	4	MEX3A	1	156046580	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	596067	156046580	93204041	112	139418											
SMG5	23381	broad.mit.edu	37	chr1	156222250	156222250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtaccgaatcccatccCgggcccctgggtgttccttc	10	17	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:156222250C>T	uc001foc.3	-	19	2857	c.2708G>A	c.(2707-2709)CGG>CAG	p.R903Q	SMG5_uc009wrv.2_Intron	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	903	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AATCCCATCCCGGGCCCCTGG	0.532													T	156222250	C	T	156222250	3	4	274	1	0	0	0	0	1	0	0	0	14796	652	23	1	358	1	SMG5	1	156222250	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	175670	156222250	93028371	113	139419											
ARHGEF11	9826	broad.mit.edu	37	chr1	156916756	156916756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaggtcactgatctctTtgatgatggggccttcctcc	11	11	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:156916756T>C	uc001fqo.2	-	26	3460	c.2420A>G	c.(2419-2421)AAA>AGA	p.K807R	ARHGEF11_uc010phu.1_Missense_Mutation_p.K223R|ARHGEF11_uc001fqn.2_Missense_Mutation_p.K847R	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	807	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTGATCTCTTTGATGATGGG	0.552													C	156916756	T	C	156916756	3	2	274	1	0	0	0	0	1	0	0	0	896	1841	64	3	2208	3	ARHGEF11	1	156916756	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	694506	156916756	92333865	114	139420											
CD1E	913	broad.mit.edu	37	chr1	158324361	158324361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctggtcccatggaaacTtcagcaagcaggagctgaaa	11	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158324361T>G	uc001fse.2	+	2	492	c.253T>G	c.(253-255)TTC>GTC	p.F85V	CD1E_uc010pid.1_Missense_Mutation_p.F83V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F85V|CD1E_uc001fsk.2_Missense_Mutation_p.F85V|CD1E_uc001fsj.2_Missense_Mutation_p.F85V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F85V|CD1E_uc001fry.2_Missense_Mutation_p.F85V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F85V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F85V|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	85					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CCATGGAAACTTCAGCAAGCA	0.498													G	158324361	T	G	158324361	3	3	274	1	0	0	0	0	1	0	0	0	2978	1609	56	5	259	5	CD1E	1	158324361	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1407605	158324361	90926260	115	139421											
OR10K2	391107	broad.mit.edu	37	chr1	158390296	158390296	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagatggctatgtaacgatCataacccatgactgccagca	8	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158390296C>A	uc010pii.1	-	1	361	c.361G>T	c.(361-363)GAT>TAT	p.D121Y		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					ATGTAACGATCATAACCCATG	0.517													A	158390296	C	A	158390296	3	1	274	1	0	0	0	0	1	0	0	0	10914	826	29	5	579	5	OR10K2	1	158390296	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	65935	158390296	90860325	116	139422											
OR10Z1	128368	broad.mit.edu	37	chr1	158577073	158577073	+	Frame_Shift_Del	DEL	C	C	-													catgacctatactgtagtgaCccccctccttaatcccattg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158577072_158577072AC>A	uc010pio.2	+	0	844	c.844_844AC>A	c.(844-846)accfs	p.T282fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	282					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)					TACTGTAGTGACCCCCCTCCT	0.458													-	158577073	C	-	158577073	7	5	274	1	0	1	0	1	0	0	0	0	10923	507	18	0	847	0	OR10Z1	1	158577073	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	186777	158577073	90673548	117	139423											
SPTA1	6708	broad.mit.edu	37	chr1	158596785	158596785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctctttgttctgactttCctcctgcaacacctgtgaga	6	12	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158596785C>T	uc001fst.1	-	41	5876	c.5677G>A	c.(5677-5679)GAA>AAA	p.E1893K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1893	Spectrin 18.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTCTGACTTTCCTCCTGCAAC	0.423													T	158596785	C	T	158596785	3	4	274	1	0	0	0	0	1	0	0	0	15115	864	30	4	1630	4	SPTA1	1	158596785	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	19712	158596785	90653836	118	139424											
SPTA1	6708	broad.mit.edu	37	chr1	158639574	158639574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgcagtcttgtctacAgtctgaaaaaataaaaataa	7	5	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158639574A>G	uc001fst.1	-	13	1801	c.1602T>C	c.(1600-1602)ACT>ACC	p.T534T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	534	Spectrin 6.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCTTGTCTACAGTCTGAAAAA	0.403													G	158639574	A	G	158639574	2	3	274	1	0	0	0	0	0	0	0	1	15115	175	7	3		3	SPTA1	1	158639574	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	42789	158639574	90611047	119	139425											
PYHIN1	149628	broad.mit.edu	37	chr1	158913704	158913704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agataagcttcgactcttctGctttcgactgagaaagaggg	11	8	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:158913704G>T	uc001ftb.2	+	6	1372	c.1127G>T	c.(1126-1128)TGC>TTC	p.C376F	PYHIN1_uc001ftc.2_Missense_Mutation_p.C367F|PYHIN1_uc001ftd.2_Missense_Mutation_p.C376F|PYHIN1_uc001fte.2_Missense_Mutation_p.C367F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	376	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					CGACTCTTCTGCTTTCGACTG	0.363													T	158913704	G	T	158913704	3	4	274	1	0	0	0	0	1	0	0	0	12865	1319	46	5	1145	5	PYHIN1	1	158913704	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	274130	158913704	90336917	120	139426											
IGSF9	57549	broad.mit.edu	37	chr1	159899451	159899451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggaggcgcttgcggcggCggcgggcagccctgcgccgg	22	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:159899451C>T	uc001fur.2	-	17	2501	c.2303G>A	c.(2302-2304)CGC>CAC	p.R768H	IGSF9_uc001fuq.2_Missense_Mutation_p.R752H|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	768	Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGCGGCGGCGGCGGGCAGC	0.687													T	159899451	C	T	159899451	3	4	274	1	0	0	0	0	1	0	0	0	7605	768	27	1	1256	1	IGSF9	1	159899451	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	985747	159899451	89351170	121	139427											
ATP1A4	480	broad.mit.edu	37	chr1	160145892	160145892	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctccccaggccgcctgatCtttgacaacctgaagaaatc	7	15	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:160145892C>A	uc001fve.3	+	16	2801	c.2322C>A	c.(2320-2322)ATC>ATA	p.I774I	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.I277I|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	774	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCGCCTGATCTTTGACAACC	0.562													A	160145892	C	A	160145892	2	1	274	1	0	0	0	0	0	0	0	1	1131	903	32	5		5	ATP1A4	1	160145892	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	246441	160145892	89104729	122	139428											
ITLN1	55600	broad.mit.edu	37	chr1	160851041	160851041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctccagtgctgcatggggGacttattgggcacgtgccag	14	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:160851041G>A	uc001fxc.2	-	5	583	c.467C>T	c.(466-468)TCC>TTC	p.S156F		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	156	Fibrinogen C-terminal.				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			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGCATGGGGGACTTATTGGG	0.572													A	160851041	G	A	160851041	3	1	274	1	0	0	0	0	1	0	0	0	7910	1174	41	4	490	4	ITLN1	1	160851041	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	705149	160851041	88399580	123	139429											
PVRL4	81607	broad.mit.edu	37	chr1	161042656	161042656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagcgtggagtaactgCggccctcgggctcttcactc	13	13	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:161042656C>T	uc001fxo.2	-	9	1627	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H	ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxl.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.R97H|PVRL4_uc010pjz.1_Missense_Mutation_p.R152H	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	443	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGAGTAACTGCGGCCCTCGGG	0.602													T	161042656	C	T	161042656	3	4	274	1	0	0	0	0	1	0	0	0	12842	768	27	1	208	1	PVRL4	1	161042656	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	191615	161042656	88207965	124	139430											
NOS1AP	9722	broad.mit.edu	37	chr1	162336931	162336931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacccctaagccagaggacCtgcattcgccgccgctgggc	12	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:162336931C>A	uc001gbv.2	+	10	1582	c.1195C>A	c.(1195-1197)CTG>ATG	p.L399M	NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.L394M|NOS1AP_uc009wut.1_Missense_Mutation_p.L104M	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	399					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCCAGAGGACCTGCATTCGCC	0.672													A	162336931	C	A	162336931	3	1	274	1	0	0	0	0	1	0	0	0	10542	680	24	5	1287	5	NOS1AP	1	162336931	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1294275	162336931	86913690	125	139431											
POGK	57645	broad.mit.edu	37	chr1	166818871	166818871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctggctctgcgcagggCgcatgactatgaggtagctc	14	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:166818871C>T	uc001gdt.1	+	5	1175	c.1055C>T	c.(1054-1056)GCG>GTG	p.A352V	POGK_uc010ple.1_Missense_Mutation_p.A267V|POGK_uc010plf.1_Missense_Mutation_p.A234V	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	352					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CTGCGCAGGGCGCATGACTAT	0.557													T	166818871	C	T	166818871	3	4	274	1	0	0	0	0	1	0	0	0	12185	768	27	1	1069	1	POGK	1	166818871	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4481940	166818871	82431750	126	139432											
BAT2L2	23215	broad.mit.edu	37	chr1	171494089	171494089	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagttccctatgggaaaggAccttcatttaatcaggtttg	9	7	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:171494089A>G	uc010pmg.1	+	10	1445	c.1179A>G	c.(1177-1179)GGA>GGG	p.G393G	BAT2L2_uc001ghr.1_Silent_p.G395G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	393							protein C-terminus binding				0						ATGGGAAAGGACCTTCATTTA	0.358													G	171494089	A	G	171494089	2	3	274	1	0	0	0	0	0	0	0	1	1321	262	10	3		3	BAT2L2	1	171494089	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4675218	171494089	77756532	127	139433											
METTL13	51603	broad.mit.edu	37	chr1	171763606	171763606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgggaatgagttgtccGcccccagcatttgtggagca	12	11	0	1	rs111707385		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:171763606G>A	uc001ghz.2	+	7	2111	c.1764G>A	c.(1762-1764)CCG>CCA	p.P588P	METTL13_uc001gia.2_Silent_p.P502P|METTL13_uc001gib.2_Silent_p.P432P|METTL13_uc010pml.1_Silent_p.P587P|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	588							methyltransferase activity|protein binding			kidney(1)	1						TGAGTTGTCCGCCCCCAGCAT	0.473													A	171763606	G	A	171763606	2	1	274	1	0	0	0	0	0	0	0	1	9497	1074	38	1		1	METTL13	1	171763606	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	269517	171763606	77487015	128	139434											
C1orf9	51430	broad.mit.edu	37	chr1	172539198	172539198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgcaggtcagtcgatgCatgcatcttctaatggaggt	12	8	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:172539198C>T	uc001giq.3	+	8	1184	c.868C>T	c.(868-870)CAT>TAT	p.H290Y	C1orf9_uc010pmm.1_Missense_Mutation_p.H290Y|C1orf9_uc009wwd.2_Missense_Mutation_p.H253Y|C1orf9_uc010pmn.1_Missense_Mutation_p.H253Y|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	290	SUN.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TCAGTCGATGCATGCATCTTC	0.358													T	172539198	C	T	172539198	3	4	274	1	0	0	0	0	1	0	0	0	2067	710	25	2	898	2	C1orf9	1	172539198	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	775592	172539198	76711423	129	139435											
SLC9A11	284525	broad.mit.edu	37	chr1	173526624	173526624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatgcatcaaaatagggCtcactaacaaaatagtaagc	7	7	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:173526624C>T	uc001giz.2	-	10	1493	c.1070G>A	c.(1069-1071)AGC>AAC	p.S357N	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	357					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CAAAATAGGGCTCACTAACAA	0.333													T	173526624	C	T	173526624	3	4	274	1	0	0	0	0	1	0	0	0	14711	797	28	2	2380	2	SLC9A11	1	173526624	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	987426	173526624	75723997	130	139436											
TNN	63923	broad.mit.edu	37	chr1	175048603	175048603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggccacgggcgttgcGtggacgggcgctgcctgtgc	19	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:175048603G>A	uc001gkl.1	+	3	657	c.544G>A	c.(544-546)GTG>ATG	p.V182M	TNN_uc010pmx.1_Missense_Mutation_p.V182M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	182	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGGCGTTGCGTGGACGGGCG	0.746													A	175048603	G	A	175048603	3	1	274	1	0	0	0	0	1	0	0	0	16320	1145	40	1	550	1	TNN	1	175048603	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1521979	175048603	74202018	131	139437											
TNN	63923	broad.mit.edu	37	chr1	175066603	175066603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgggtgactgagaataccGccaccatctcctgggacccg	11	15	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:175066603G>A	uc001gkl.1	+	8	1752	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	547	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAGAATACCGCCACCATCTC	0.522													A	175066603	G	A	175066603	3	1	274	1	0	0	0	0	1	0	0	0	16320	1087	38	1	1665	1	TNN	1	175066603	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	18000	175066603	74184018	132	139438											
ZNF648	127665	broad.mit.edu	37	chr1	182026251	182026251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcgcccgtgtgcaggcGcctgtgctgctggagtgtgc	16	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:182026251G>T	uc001goz.2	-	2	1103	c.895C>A	c.(895-897)CGC>AGC	p.R299S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	299	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GTGTGCAGGCGCCTGTGCTGC	0.706													T	182026251	G	T	182026251	3	4	274	1	0	0	0	0	1	0	0	0	18060	1087	38	5	815	5	ZNF648	1	182026251	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6959648	182026251	67224370	133	139439											
LAMC2	3918	broad.mit.edu	37	chr1	183204789	183204789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagccctctcactggtgCgcaaggccctgcatgaagga	11	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:183204789C>T	uc001gqa.2	+	16	2694	c.2380C>T	c.(2380-2382)CGC>TGC	p.R794C	LAMC2_uc001gpz.3_Missense_Mutation_p.R794C|LAMC2_uc010poa.1_Missense_Mutation_p.R494C	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	794	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						CTCACTGGTGCGCAAGGCCCT	0.537											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	183204789	C	T	183204789	3	4	274	1	0	0	0	0	1	0	0	0	8615	768	27	1	2442	1	LAMC2	1	183204789	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1178538	183204789	66045832	134	139440											
GLT25D2	23127	broad.mit.edu	37	chr1	183944265	183944265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	accatttttccctcgcagttCgaagggctgcctgtcgtagt	10	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:183944265C>G	uc001gqr.2	-	3	830	c.458G>C	c.(457-459)CGA>CCA	p.R153P	GLT25D2_uc010poj.1_Missense_Mutation_p.R153P|GLT25D2_uc001gqs.2_Missense_Mutation_p.R33P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	153					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CCTCGCAGTTCGAAGGGCTGC	0.423													G	183944265	C	G	183944265	3	3	274	1	0	0	0	0	1	0	0	0	6467	884	31	5	1462	5	GLT25D2	1	183944265	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	739476	183944265	65306356	135	139441											
HMCN1	83872	broad.mit.edu	37	chr1	185970773	185970773	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgaacaatgggaagatactGaagctcttcagagccactcc	10	10	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:185970773G>A	uc001grq.1	+	28	4477	c.4248G>A	c.(4246-4248)CTG>CTA	p.L1416L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1416	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGAAGATACTGAAGCTCTTCA	0.398													A	185970773	G	A	185970773	2	1	274	1	0	0	0	0	0	0	0	1	7220	1277	45	4		4	HMCN1	1	185970773	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2026508	185970773	63279848	136	139442											
HMCN1	83872	broad.mit.edu	37	chr1	186092202	186092202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacatggcataaagatgggCgtgcaattgtggaatctatc	11	6	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:186092202C>T	uc001grq.1	+	81	12578	c.12349C>T	c.(12349-12351)CGT>TGT	p.R4117C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4117	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TAAAGATGGGCGTGCAATTGT	0.512													T	186092202	C	T	186092202	3	4	274	1	0	0	0	0	1	0	0	0	7220	768	27	1	12671	1	HMCN1	1	186092202	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	121429	186092202	63158419	137	139443											
CFHR3	10878	broad.mit.edu	37	chr1	196759259	196759259	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagtgtatgtgccacagtCaagagtcgagtaccaatgcc	10	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:196759259C>T	uc001gtl.2	+	5	785	c.698C>T	c.(697-699)TCA>TTA	p.S233L	CFHR3_uc010poy.1_Missense_Mutation_p.S172L|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	233	Sushi 4.					extracellular space					0						GTGCCACAGTCAAGAGTCGAG	0.423													T	196759259	C	T	196759259	3	4	274	1	0	0	0	0	1	0	0	0	3286	838	29	4	716	4	CFHR3	1	196759259	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	10667057	196759259	52491362	138	139444											
ASPM	259266	broad.mit.edu	37	chr1	197071707	197071707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatgtttctttctttcattGcccagtatctttgctgtact	6	9	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:197071707G>T	uc001gtu.2	-	18	6931	c.6674C>A	c.(6673-6675)GCA>GAA	p.A2225E	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.A73E	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2225					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTCTTTCATTGCCCAGTATCT	0.328													T	197071707	G	T	197071707	3	4	274	1	0	0	0	0	1	0	0	0	1056	1319	46	5	3803	5	ASPM	1	197071707	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	312448	197071707	52178914	139	139445											
CRB1	23418	broad.mit.edu	37	chr1	197396685	197396685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcctctccatgtttgtcCgaacgcttcaaccatcaggc	7	15	4	0	rs150412614		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:197396685C>T	uc001gtz.2	+	7	2365	c.2230C>T	c.(2230-2232)CGA>TGA	p.R744*	CRB1_uc010poz.1_Nonsense_Mutation_p.R675*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.R632*|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Nonsense_Mutation_p.R225*|CRB1_uc001gub.1_Nonsense_Mutation_p.R393*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	744	Extracellular (Potential).|Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						CATGTTTGTCCGAACGCTTCA	0.483													T	197396685	C	T	197396685	4	4	274	1	0	0	0	0	0	1	0	0	3848	644	23	1	2256	1	CRB1	1	197396685	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	324978	197396685	51853936	140	139446											
NAV1	89796	broad.mit.edu	37	chr1	201618272	201618272	+	Frame_Shift_Del	DEL	C	C	-													cccggcgggcggcgccaagaCccccctggctccgctcgcgc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:201618272delC	uc001gwu.2	+	1	823	c.476delC	c.(475-477)ACCfs	p.T159fs		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	159					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GGCGCCAAGACCCCCCTGGCT	0.697													-	201618272	C	-	201618272	7	5	274	1	0	1	0	1	0	0	0	0	10183	507	18	0	478	0	NAV1	1	201618272	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	4221587	201618272	47632349	141	139447											
GPR37L1	9283	broad.mit.edu	37	chr1	202092388	202092388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcaccccagacagtggGcaggaactgaggggcaatct	17	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:202092388G>A	uc001gxj.2	+	1	360	c.297G>A	c.(295-297)GGG>GGA	p.G99G		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	99	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						CAGACAGTGGGCAGGAACTGA	0.637													A	202092388	G	A	202092388	2	1	274	1	0	0	0	0	0	0	0	1	6692	1190	42	2		2	GPR37L1	1	202092388	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	474116	202092388	47158233	142	139448											
LGR6	59352	broad.mit.edu	37	chr1	202288271	202288271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggatctacgccagcagGtggaggcttgtcagggggtg	19	7	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:202288271G>A	uc001gxu.2	+	18	2840	c.2840G>A	c.(2839-2841)GGT>GAT	p.G947D	LGR6_uc001gxv.2_Missense_Mutation_p.G895D|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.G808D	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	947	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						ACGCCAGCAGGTGGAGGCTTG	0.498													A	202288271	G	A	202288271	3	1	274	1	0	0	0	0	1	0	0	0	8758	1261	44	4	3057	4	LGR6	1	202288271	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	195883	202288271	46962350	143	139449											
MYBPH	4608	broad.mit.edu	37	chr1	203139557	203139557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtggttgggtggtagcGctccagcactgtgaaccatt	15	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:203139557G>A	uc001gzh.1	-	7	1014	c.955C>T	c.(955-957)CGC>TGC	p.R319C	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	319	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGGTGGTAGCGCTCCAGCACT	0.587													A	203139557	G	A	203139557	3	1	274	1	0	0	0	0	1	0	0	0	10014	1087	38	1	494	1	MYBPH	1	203139557	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	851286	203139557	46111064	144	139450											
ZC3H11A	9877	broad.mit.edu	37	chr1	203797471	203797471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgggaaaatcagccaacAggatgtcaaaaattaaactg	8	6	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:203797471A>G	uc001hac.2	+	7	835	c.219A>G	c.(217-219)ACA>ACG	p.T73T	ZC3H11A_uc001had.2_Silent_p.T73T|ZC3H11A_uc001hae.2_Silent_p.T73T|ZC3H11A_uc001haf.2_Silent_p.T73T|ZC3H11A_uc010pqm.1_Silent_p.T19T|ZC3H11A_uc001hag.1_Silent_p.T73T	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	73	C3H1-type 3.						nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATCAGCCAACAGGATGTCAAA	0.358													G	203797471	A	G	203797471	2	3	274	1	0	0	0	0	0	0	0	1	17557	175	7	3		3	ZC3H11A	1	203797471	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	657914	203797471	45453150	145	139451											
NFASC	23114	broad.mit.edu	37	chr1	204948558	204948558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccattccaagtaccccGgcagcgttaactcagccgtc	8	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:204948558G>A	uc001hbj.2	+	19	2375	c.2047G>A	c.(2047-2049)GGC>AGC	p.G683S	NFASC_uc010pra.1_Missense_Mutation_p.G679S|NFASC_uc001hbi.2_Missense_Mutation_p.G679S|NFASC_uc010prb.1_Missense_Mutation_p.G694S|NFASC_uc010prc.1_Missense_Mutation_p.G250S|NFASC_uc001hbk.1_Missense_Mutation_p.G489S|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	683	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			CAAGTACCCCGGCAGCGTTAA	0.572													A	204948558	G	A	204948558	3	1	274	1	0	0	0	0	1	0	0	0	10359	1116	39	1	2197	1	NFASC	1	204948558	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1151087	204948558	44302063	146	139452											
CDK18	5129	broad.mit.edu	37	chr1	205492639	205492639	+	Frame_Shift_Del	DEL	C	C	-													ctcggtcctcttggcagagaCcccccgcaggagtgcagcac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:205492639delC	uc001hcr.2	+	3	378	c.159delC	c.(157-159)GACfs	p.D53fs	CDK18_uc009xbk.1_RNA|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_Frame_Shift_Del_p.P74fs|CDK18_uc001hcp.2_Frame_Shift_Del_p.D53fs|CDK18_uc001hcq.2_Frame_Shift_Del_p.D53fs|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'UTR	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	51							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						TTGGCAGAGACCCCCCGCAGG	0.682													-	205492639	C	-	205492639	7	5	274	1	0	1	0	1	0	0	0	0	3134	506	18	0	165	0	CDK18	1	205492639	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	544081	205492639	43757982	147	139453											
SLC26A9	115019	broad.mit.edu	37	chr1	205892468	205892468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgagccttaccttggCgatgaccttttgcctgaaga	12	10	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:205892468C>T	uc001hdq.2	-	15	1768	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	SLC26A9_uc001hdo.2_Missense_Mutation_p.A220T|SLC26A9_uc001hdp.2_Missense_Mutation_p.A552T	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	552	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTACCTTGGCGATGACCTTT	0.557													T	205892468	C	T	205892468	3	4	274	1	0	0	0	0	1	0	0	0	14524	768	27	1	1045	1	SLC26A9	1	205892468	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	399829	205892468	43358153	148	139454											
CR2	1380	broad.mit.edu	37	chr1	207651401	207651401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatggaaccctcccctggCggtttgcagatcccgtaagt	10	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:207651401C>T	uc001hfw.2	+	15	2991	c.2897C>T	c.(2896-2898)GCG>GTG	p.A966V	CR2_uc001hfv.2_Missense_Mutation_p.A1025V|CR2_uc009xch.2_Missense_Mutation_p.A904V	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	966	Sushi 15.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CCTCCCCTGGCGGTTTGCAGA	0.552													T	207651401	C	T	207651401	3	4	274	1	0	0	0	0	1	0	0	0	3842	768	27	1	3136	1	CR2	1	207651401	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1758933	207651401	41599220	149	139455											
CR1	1378	broad.mit.edu	37	chr1	207669657	207669657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagcctgtcgggccgccGgcgcccggtctccccttctg	14	19	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:207669657G>A	uc001hfy.2	+	1	185	c.45G>A	c.(43-45)CCG>CCA	p.P15P	CR1_uc009xcl.1_Silent_p.P15P|CR1_uc001hfx.2_Silent_p.P15P|CR1_uc010psg.1_Silent_p.P15P|CR1_uc009xcj.1_Silent_p.P15P|CR1_uc009xck.1_Silent_p.P15P	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	15					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TCGGGCCGCCGGCGCCCGGTC	0.637													A	207669657	G	A	207669657	2	1	274	1	0	0	0	0	0	0	0	1	3840	1103	39	1		1	CR1	1	207669657	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	18256	207669657	41580964	150	139456											
CR1L	1379	broad.mit.edu	37	chr1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-													gcaatcttggaagcagagggAaaaaggtgtttgagcttgtg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:207867813_207867813GA>G	uc001hga.4	+	4	700	c.579_579GA>G	c.(577-579)gggfs	p.G193fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	193	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGCAGAGGGAAAAAGGTGT	0.502													-	207867814	A	-	207867814	7	5	274	1	0	1	0	1	0	0	0	0	3841	247	9	0	598	0	CR1L	1	207867814	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	198157	207867814	41382807	151	139457											
LAMB3	3914	broad.mit.edu	37	chr1	209790919	209790919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttttctgctggccgcaGtacctgctgaacctttgtgg	11	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:209790919G>A	uc001hhg.2	-	20	3454	c.3064C>T	c.(3064-3066)CTG>TTG	p.L1022L	LAMB3_uc009xco.2_Silent_p.L1022L|LAMB3_uc001hhh.2_Silent_p.L1022L	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1022	Domain I.|Potential.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTGGCCGCAGTACCTGCTGA	0.582													A	209790919	G	A	209790919	2	1	274	1	0	0	0	0	0	0	0	1	8612	1020	36	4		4	LAMB3	1	209790919	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1923105	209790919	39459702	152	139458											
INTS7	25896	broad.mit.edu	37	chr1	212141284	212141284	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtaaagatctccatatcGagaagcaaggcttcgaaatt	9	8	1	2	rs147974722		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:212141284G>A	uc001hiw.1	-	15	2155	c.2050C>T	c.(2050-2052)CGA>TGA	p.R684*	INTS7_uc009xdb.1_Nonsense_Mutation_p.R684*|INTS7_uc001hix.1_Nonsense_Mutation_p.R560*|INTS7_uc001hiy.1_Nonsense_Mutation_p.R684*|INTS7_uc010pta.1_Nonsense_Mutation_p.R635*	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	684					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TCTCCATATCGAGAAGCAAGG	0.353													A	212141284	G	A	212141284	4	1	274	1	0	0	0	0	0	1	0	0	7783	1066	37	1	862	1	INTS7	1	212141284	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2350365	212141284	37109337	153	139459											
PROX1	5629	broad.mit.edu	37	chr1	214169895	214169895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgcctgaccatgacaGcacagccctcttaagccggc	10	14	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:214169895G>A	uc001hkh.2	+	2	289	c.17G>A	c.(16-18)AGC>AAC	p.S6N	PROX1_uc001hkg.1_Missense_Mutation_p.S6N	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	6					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			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GACCATGACAGCACAGCCCTC	0.512													A	214169895	G	A	214169895	3	1	274	1	0	0	0	0	1	0	0	0	12560	971	34	2	19	2	PROX1	1	214169895	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2028611	214169895	35080726	154	139460											
CENPF	1063	broad.mit.edu	37	chr1	214819474	214819474	+	Frame_Shift_Del	DEL	A	A	-													aaagcagaagtagagactctAaaaacacaaatagaagagat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:214819474delA	uc001hkm.2	+	13	6735	c.6561delA	c.(6559-6561)CTAfs	p.L2187fs		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2283	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGAGACTCTAAAAACACAAA	0.373													-	214819474	A	-	214819474	7	5	274	1	0	1	0	1	0	0	0	0	3231	349	13	0	6607	0	CENPF	1	214819474	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	649579	214819474	34431147	155	139461											
MOSC2	54996	broad.mit.edu	37	chr1	220928350	220928350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgacaggagcctcgcctcGtgctcatctccatcatttat	7	16	3	0	rs145299584	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:220928350G>A	uc001hmq.2	+	2	532	c.334G>A	c.(334-336)GTG>ATG	p.V112M	MOSC2_uc001hmr.2_Missense_Mutation_p.V112M|MOSC2_uc009xdx.2_Missense_Mutation_p.V112M	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	112						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		GCCTCGCCTCGTGCTCATCTC	0.502													A	220928350	G	A	220928350	3	1	274	1	0	0	0	0	1	0	0	0	9714	1145	40	1	340	1	MOSC2	1	220928350	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6108876	220928350	28322271	156	139462											
TLR5	7100	broad.mit.edu	37	chr1	223283951	223283951	+	Frame_Shift_Del	DEL	C	C	-													actgctgtttctgtacaaagCctctgatggattgatgtttc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:223283950_223283950GC>G	uc021pjl.1	-	0	2424	c.2424_2424GC>C	c.(2422-2424)ggcfs	p.G808fs	TLR5_uc001hnv.2_Frame_Shift_Del_p.G808fs|TLR5_uc001hnw.2_Frame_Shift_Del_p.G808fs	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	808	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|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)		TCTGTACAAAGCCTCTGATGG	0.453													-	223283951	C	-	223283951	7	5	274	1	0	1	0	1	0	0	0	0	15951	739	26	0	157	0	TLR5	1	223283951	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	2355601	223283951	25966670	157	139463											
C1orf65	164127	broad.mit.edu	37	chr1	223568121	223568121	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caattaccaggcccggaaggTcctcatggactgccaggcca	11	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:223568121T>G	uc001hoa.2	+	1	1407	c.1304T>G	c.(1303-1305)GTC>GGC	p.V435G		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	435	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GCCCGGAAGGTCCTCATGGAC	0.597													G	223568121	T	G	223568121	3	3	274	1	0	0	0	0	1	0	0	0	2055	1667	58	5	1306	5	C1orf65	1	223568121	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	284170	223568121	25682500	158	139464											
TP53BP2	7159	broad.mit.edu	37	chr1	223989893	223989893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcccctctgaagcctgaaTgaccaaggaaccatccggca	10	15	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:223989893T>C	uc010pvb.1	-	9	1442	c.1150A>G	c.(1150-1152)ATT>GTT	p.I384V	TP53BP2_uc001hod.2_Missense_Mutation_p.I255V|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_Missense_Mutation_p.I23V	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	378					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			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GAAGCCTGAATGACCAAGGAA	0.527													C	223989893	T	C	223989893	3	2	274	1	0	0	0	0	1	0	0	0	16381	1464	51	3	2294	3	TP53BP2	1	223989893	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	421772	223989893	25260728	159	139465											
ENAH	55740	broad.mit.edu	37	chr1	225707109	225707109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgttcctgccgttccCgttcttgtctctctctctcc	7	18	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:225707109C>T	uc001hpc.1	-	5	1046	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	ENAH_uc001hpd.1_Missense_Mutation_p.R198Q	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	198	Potential.|9.|9 X 5 AA tandem repeats of [LMQ]-E-[QR]- E-[QR].				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ctgccgttccCGTTCTTGTct	0.1													T	225707109	C	T	225707109	3	4	274	1	0	0	0	0	1	0	0	0	5111	652	23	1	1226	1	ENAH	1	225707109	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1717216	225707109	23543512	160	139466											
ITPKB	3707	broad.mit.edu	37	chr1	226835021	226835021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagccggtccaggcagCgctgctctgactcacagtgc	11	16	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:226835021C>T	uc010pvo.1	-	4	2433	c.2093G>A	c.(2092-2094)CGC>CAC	p.R698H		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	698							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GTCCAGGCAGCGCTGCTCTGA	0.592													T	226835021	C	T	226835021	3	4	274	1	0	0	0	0	1	0	0	0	7918	768	27	1	767	1	ITPKB	1	226835021	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1127912	226835021	22415600	161	139467											
CABC1	56997	broad.mit.edu	37	chr1	227152799	227152799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccggagcctccacagaCttctcttcagcctccgctcc	8	19	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:227152799C>T	uc001hqm.1	+	8	3695	c.276C>T	c.(274-276)GAC>GAT	p.D92D	CABC1_uc010pvp.1_Silent_p.D55D|CABC1_uc001hqn.1_Silent_p.D92D|CABC1_uc009xeq.1_Silent_p.D40D|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	92					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CCTCCACAGACTTCTCTTCAG	0.602													T	227152799	C	T	227152799	2	4	274	1	0	0	0	0	0	0	0	1	2527	564	20	4		4	CABC1	1	227152799	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	317778	227152799	22097822	162	139468											
CDC42BPA	8476	broad.mit.edu	37	chr1	227227917	227227918	+	Frame_Shift_Ins	INS	-	-	A													gagtagtaaaagattttacaINSaaaaactggtgagtcttgcg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:227227916_227227917C>CA	uc001hqr.3	-	22	3952_3953	c.3009_3010G>TG	c.(3007-3012)tttgtafs	p.F1003fs	CDC42BPA_uc001hqq.3_Frame_Shift_Ins_p.F302fs|CDC42BPA_uc001hqs.3_Frame_Shift_Ins_p.F922fs|CDC42BPA_uc009xes.3_Frame_Shift_Ins_p.F975fs|CDC42BPA_uc010pvs.2_Frame_Shift_Ins_p.F983fs|CDC42BPA_uc001hqp.3_Frame_Shift_Ins_p.F159fs|CDC42BPA_uc001hqu.1_Frame_Shift_Ins_p.F210fs	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1016					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)				AAAGATTTTACAAAAAACTGGT	0.376													A	227227918	-	A	227227917	7	5	274	1	0	1	1	0	0	0	0	0	3072	127	5	0	2206	0	CDC42BPA	1	227227917	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	75118	227227917	22022704	163	139469											
OBSCN	84033	broad.mit.edu	37	chr1	228462328	228462328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtggtcgcagaggagggCggcgaggccaccttccagtg	17	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:228462328C>T	uc009xez.1	+	20	5783	c.5739C>T	c.(5737-5739)GGC>GGT	p.G1913G	OBSCN_uc001hsn.2_Silent_p.G1913G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1913	Ig-like 19.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CAGAGGAGGGCGGCGAGGCCA	0.632													T	228462328	C	T	228462328	2	4	274	1	0	0	0	0	0	0	0	1	10812	755	27	1		1	OBSCN	1	228462328	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1234411	228462328	20788293	164	139470											
OBSCN	84033	broad.mit.edu	37	chr1	228509885	228509885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgtggtgcctccagagCcattgcccagcctactgact	9	17	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:228509885C>T	uc009xez.1	+	55	15387	c.15343C>T	c.(15343-15345)CCA>TCA	p.P5115S	OBSCN_uc001hsn.2_Missense_Mutation_p.P5115S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5115					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCCTCCAGAGCCATTGCCCAG	0.612													T	228509885	C	T	228509885	3	4	274	1	0	0	0	0	1	0	0	0	10812	739	26	2	15557	2	OBSCN	1	228509885	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	47557	228509885	20740736	165	139471											
URB2	9816	broad.mit.edu	37	chr1	229772212	229772212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacttgggcccaggtggacGctatgttcagtttgaactgt	12	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:229772212G>A	uc001hts.1	+	4	1988	c.1852G>A	c.(1852-1854)GCT>ACT	p.A618T	URB2_uc009xfd.1_Missense_Mutation_p.A618T	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	618						nucleolus				central_nervous_system(2)|ovary(1)	3						CCAGGTGGACGCTATGTTCAG	0.572													A	229772212	G	A	229772212	3	1	274	1	0	0	0	0	1	0	0	0	17022	1087	38	1	1862	1	URB2	1	229772212	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1262327	229772212	19478409	166	139472											
AGT	183	broad.mit.edu	37	chr1	230846219	230846219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtggccccatggaccacGccccatagctcactgtgcat	10	16	1	0	rs143232180		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:230846219G>A	uc001hty.3	-	2	886	c.378C>T	c.(376-378)GGC>GGT	p.G126G	AGT_uc009xfe.2_Silent_p.G126G|AGT_uc009xff.2_Silent_p.G98G	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	126					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				0	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)	CATGGACCACGCCCCATAGCT	0.582													A	230846219	G	A	230846219	2	1	274	1	0	0	0	0	0	0	0	1	399	1074	38	1		1	AGT	1	230846219	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1074007	230846219	18404402	167	139473											
DISC1	27185	broad.mit.edu	37	chr1	231830305	231830305	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctctcggcccttcagTctcttggctacacgggtctc	9	15	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:231830305T>G	uc001huz.2	+	2	854	c.801T>G	c.(799-801)AGT>AGG	p.S267R	TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.S256R|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.S222R|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.S256R|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.S256R|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.S267R|DISC1_uc010pwp.1_Missense_Mutation_p.S267R|DISC1_uc010pwq.1_Missense_Mutation_p.S267R|DISC1_uc010pwr.1_Missense_Mutation_p.S267R|DISC1_uc010pws.1_Missense_Mutation_p.S267R|DISC1_uc010pwt.1_Missense_Mutation_p.S267R|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.S267R|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.S267R|DISC1_uc010pxb.1_Missense_Mutation_p.S267R|DISC1_uc010pxc.1_Missense_Mutation_p.S267R|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.S267R|DISC1_uc009xfr.2_Missense_Mutation_p.S222R|DISC1_uc010pxf.1_Missense_Mutation_p.S267R|DISC1_uc010pxg.1_Missense_Mutation_p.S267R|DISC1_uc010pxh.1_Missense_Mutation_p.S267R|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.S267R|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.S267R|DISC1_uc010pwm.1_Missense_Mutation_p.S267R|DISC1_uc001hux.1_Missense_Mutation_p.S267R|DISC1_uc001hvc.3_Missense_Mutation_p.S267R|DISC1_uc010pwn.1_Missense_Mutation_p.S267R	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	267	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			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCCTTCAGTCTCTTGGCTA	0.617													G	231830305	T	G	231830305	3	3	274	1	0	0	0	0	1	0	0	0	4538	1664	58	5	807	5	DISC1	1	231830305	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	984086	231830305	17420316	168	139474											
DISC1	27185	broad.mit.edu	37	chr1	232144539	232144539	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctgtctcagctgcaagtGtccactgcttgggaaagtgt	11	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:232144539G>T	uc001huz.2	+	11	2104	c.2051G>T	c.(2050-2052)TGT>TTT	p.C684F	TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxd.1_Missense_Mutation_p.C329F|DISC1_uc010pxe.1_Missense_Mutation_p.C684F|DISC1_uc009xfr.2_Missense_Mutation_p.C639F|DISC1_uc010pxf.1_Missense_Mutation_p.V664F|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Missense_Mutation_p.C716F|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.C329F|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.C562F|DISC1_uc010pxn.1_Missense_Mutation_p.C329F|DISC1_uc001hva.2_Missense_Mutation_p.C684F	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	684	Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Interaction with ATF4 and ATF5.				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			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGCTGCAAGTGTCCACTGCTT	0.478													T	232144539	G	T	232144539	3	4	274	1	0	0	0	0	1	0	0	0	4538	1377	48	5	2829	5	DISC1	1	232144539	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	314234	232144539	17106082	169	139475											
PCNXL2	80003	broad.mit.edu	37	chr1	233397814	233397814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagaagagtgatgagAggttatgctttgccctctgg	14	8	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:233397814A>G	uc001hvl.2	-	3	692	c.457T>C	c.(457-459)TCT>CCT	p.S153P	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	153						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GAGTGATGAGAGGTTATGCTT	0.493													G	233397814	A	G	233397814	3	3	274	1	0	0	0	0	1	0	0	0	11592	304	11	3	6084	3	PCNXL2	1	233397814	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1253275	233397814	15852807	170	139476											
SLC35F3	148641	broad.mit.edu	37	chr1	234041293	234041293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcatgaggaggtcaccGgacgtcagcccccggagact	15	12	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:234041293G>A	uc001hvy.1	+	2	217	c.72G>A	c.(70-72)CCG>CCA	p.P24P		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	Error:Variant_position_missing_in_Q8IY50_after_alignment					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGAGGTCACCGGACGTCAGCC	0.647													A	234041293	G	A	234041293	2	1	274	1	0	0	0	0	0	0	0	1	14590	1103	39	1		1	SLC35F3	1	234041293	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	643479	234041293	15209328	171	139477											
RBM34	23029	broad.mit.edu	37	chr1	235323838	235323838	+	Frame_Shift_Del	DEL	T	T	-													ttaccaacctgtctgccaacTttttttctgcgttagtgtgt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:235323837_235323837CT>C	uc001hwn.3	-	2	585	c.354_354AG>G	c.(352-354)aagfs	p.K118fs	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Frame_Shift_Del_p.K118fs	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	118						nucleolus	RNA binding|nucleotide 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)			TGTCTGCCAACTTTTTTTCTG	0.343													-	235323838	T	-	235323838	7	5	274	1	0	1	0	1	0	0	0	0	13131	1609	56	0	996	0	RBM34	1	235323838	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	1282545	235323838	13926783	172	139478											
GGPS1	9453	broad.mit.edu	37	chr1	235505516	235505516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccttgatcacccagatgCagtgaagctttttacccgcc	7	14	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:235505516C>T	uc001hwv.2	+	4	416	c.332C>T	c.(331-333)GCA>GTA	p.A111V	GGPS1_uc001hww.2_Missense_Mutation_p.A111V|GGPS1_uc001hwx.2_Missense_Mutation_p.A57V|GGPS1_uc001hwy.2_Missense_Mutation_p.A111V	NM_001037277	NP_001032354	O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1 isoform A	111					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)	1	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)			CACCCAGATGCAGTGAAGCTT	0.448													T	235505516	C	T	235505516	3	4	274	1	0	0	0	0	1	0	0	0	6360	710	25	2	342	2	GGPS1	1	235505516	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	181678	235505516	13745105	173	139479											
FMN2	56776	broad.mit.edu	37	chr1	240286542	240286542	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagaagaagcagagaAgttttgctcccggatcattg	11	10	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:240286542A>C	uc010pyd.1	+	2	1904	c.1679A>C	c.(1678-1680)AAG>ACG	p.K560T	FMN2_uc010pye.1_Missense_Mutation_p.K560T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	560					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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAGCAGAGAAGTTTTGCTCC	0.512													C	240286542	A	C	240286542	3	2	274	1	0	0	0	0	1	0	0	0	5950	72	3	5	1685	5	FMN2	1	240286542	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4781026	240286542	8964079	174	139480											
FMN2	56776	broad.mit.edu	37	chr1	240371894	240371894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accaaccccacaggtgtgtgGatttcttcctcctccattgc	7	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:240371894G>T	uc010pyd.1	+	5	4007	c.3782G>T	c.(3781-3783)GGA>GTA	p.G1261V	FMN2_uc010pye.1_Missense_Mutation_p.G1265V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1261	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGTGTGTGGATTTCTTCCT	0.542													T	240371894	G	T	240371894	3	4	274	1	0	0	0	0	1	0	0	0	5950	1174	41	5	3800	5	FMN2	1	240371894	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	85352	240371894	8878727	175	139481											
EXO1	9156	broad.mit.edu	37	chr1	242020674	242020674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcagggggtagattgcCtcgtggctccctatgaagct	14	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:242020674C>A	uc001hzh.2	+	7	973	c.433C>A	c.(433-435)CTC>ATC	p.L145I	EXO1_uc001hzi.2_Missense_Mutation_p.L145I|EXO1_uc001hzj.2_Missense_Mutation_p.L145I|EXO1_uc009xgq.2_Missense_Mutation_p.L145I	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	145	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTAGATTGCCTCGTGGCTCC	0.493								Direct_reversal_of_damage|Editing_and_processing_nucleases					A	242020674	C	A	242020674	3	1	274	1	0	0	0	0	1	0	0	0	5300	681	24	5	447	5	EXO1	1	242020674	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1648780	242020674	7229947	176	139482											
C1orf101	257044	broad.mit.edu	37	chr1	244643032	244643032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttaggatgaagaagaacGctatttatttgtggaaagtt	10	3	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:244643032G>A	uc001iam.2	+	5	331	c.272G>A	c.(271-273)CGC>CAC	p.R91H	C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.2_Missense_Mutation_p.R91H|C1orf101_uc010pym.1_5'UTR|C1orf101_uc010pyn.1_Missense_Mutation_p.R94H	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	91	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	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)			GAAGAAGAACGCTATTTATTT	0.313													A	244643032	G	A	244643032	3	1	274	1	0	0	0	0	1	0	0	0	1976	1087	38	1	290	1	C1orf101	1	244643032	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2622358	244643032	4607589	177	139483											
NLRP3	114548	broad.mit.edu	37	chr1	247582207	247582207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactatcctccccagaagggCtgcatccccctcccgagggg	11	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:247582207C>T	uc001icr.2	+	3	249	c.111C>T	c.(109-111)GGC>GGT	p.G37G	NLRP3_uc001ics.2_Silent_p.G37G|NLRP3_uc001icu.2_Silent_p.G37G|NLRP3_uc001icw.2_Silent_p.G37G|NLRP3_uc001icv.2_Silent_p.G37G|NLRP3_uc010pyw.1_Silent_p.G35G|NLRP3_uc001ict.1_Silent_p.G35G	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	37	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	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)			CCCAGAAGGGCTGCATCCCCC	0.567													T	247582207	C	T	247582207	2	4	274	1	0	0	0	0	0	0	0	1	10478	784	28	2		2	NLRP3	1	247582207	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2939175	247582207	1668414	178	139484											
OR2G2	81470	broad.mit.edu	37	chr1	247752027	247752027	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcccggctgtgatgtcCtgtgaccgctatgtggctgt	13	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:247752027C>A	uc010pyy.1	+	1	366	c.366C>A	c.(364-366)TCC>TCA	p.S122S		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			CTGTGATGTCCTGTGACCGCT	0.532													A	247752027	C	A	247752027	2	1	274	1	0	0	0	0	0	0	0	1	10998	668	24	5		5	OR2G2	1	247752027	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	169820	247752027	1498594	179	139485											
OR2T8	343172	broad.mit.edu	37	chr1	248084575	248084575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggctgactacttgaccGgaagtaaggccatctcccgc	12	13	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:248084575G>A	uc010pzc.1	+	1	256	c.256G>A	c.(256-258)GGA>AGA	p.G86R		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTACTTGACCGGAAGTAAGGC	0.577													A	248084575	G	A	248084575	3	1	274	1	0	0	0	0	1	0	0	0	11030	1117	39	1	258	1	OR2T8	1	248084575	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	332548	248084575	1166046	180	139486											
OR2L2	26246	broad.mit.edu	37	chr1	248202020	248202020	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacaggatcttggatgataAgctctatcaactcttgtgct	8	8	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:248202020A>C	uc001idw.2	+	1	547	c.451A>C	c.(451-453)AGC>CGC	p.S151R	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			TTGGATGATAAGCTCTATCAA	0.418													C	248202020	A	C	248202020	3	2	274	1	0	0	0	0	1	0	0	0	11007	72	3	5	453	5	OR2L2	1	248202020	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	117445	248202020	1048601	181	139487											
OR2T33	391195	broad.mit.edu	37	chr1	248436861	248436861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagatggccttacttcCggtcaagtagtcagccgcca	13	12	2	1	rs139302289	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr1:248436861C>T	uc010pzi.1	-	1	256	c.256G>A	c.(256-258)GGA>AGA	p.G86R		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	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)			GCCTTACTTCCGGTCAAGTAG	0.567													T	248436861	C	T	248436861	3	4	274	1	0	0	0	0	1	0	0	0	11024	661	23	1	709	1	OR2T33	1	248436861	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	234841	248436861	813760	182	139488											
PXDN	7837	broad.mit.edu	37	chr2	1652162	1652162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagcagctgcgagggCacacgcattttccccgccac	11	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:1652162C>T	uc002qxa.2	-	17	3454	c.3390G>A	c.(3388-3390)GTG>GTA	p.V1130V		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1130					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			pancreas(6)|ovary(2)	8	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)		GCTGCGAGGGCACACGCATTT	0.632													T	1652162	C	T	1652162	2	4	274	1	0	0	0	0	0	0	0	1	12847	697	25	2		2	PXDN	2	1652162	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		1652162	241547211	183	139489											
PXDN	7837	broad.mit.edu	37	chr2	1652753	1652753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccctgccgcagcaggccGcggtggctggccaggtcgcg	17	15	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:1652753G>A	uc002qxa.2	-	17	2863	c.2799C>T	c.(2797-2799)CGC>CGT	p.R933R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	933					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			pancreas(6)|ovary(2)	8	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)		GCAGCAGGCCGCGGTGGCTGG	0.692													A	1652753	G	A	1652753	2	1	274	1	0	0	0	0	0	0	0	1	12847	1074	38	1		1	PXDN	2	1652753	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	591	1652753	241546620	184	139490											
COLEC11	78989	broad.mit.edu	37	chr2	3691529	3691529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacctggagaaggagggcGccttcgtgtactctgaccac	13	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:3691529G>A	uc002qya.2	+	7	785	c.637G>A	c.(637-639)GCC>ACC	p.A213T	COLEC11_uc002qxz.2_Missense_Mutation_p.A210T|COLEC11_uc002qyb.2_Missense_Mutation_p.A189T|COLEC11_uc002qyc.2_Missense_Mutation_p.A189T|COLEC11_uc010ewo.2_Missense_Mutation_p.A165T|COLEC11_uc010ewp.2_Missense_Mutation_p.A187T|COLEC11_uc010ewq.2_Missense_Mutation_p.A163T|COLEC11_uc010ewr.2_Missense_Mutation_p.A163T|COLEC11_uc010ews.2_Missense_Mutation_p.A139T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	213	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAAGGAGGGCGCCTTCGTGTA	0.632													A	3691529	G	A	3691529	3	1	274	1	0	0	0	0	1	0	0	0	3711	1087	38	1	742	1	COLEC11	2	3691529	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2038776	3691529	239507844	185	139491											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9547672	9547672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcccgcccccagaccgTcatcgtaacacaccatccgg	6	18	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:9547672T>C	uc002qzj.2	-	6	614	c.437A>G	c.(436-438)GAC>GGC	p.D146G	ITGB1BP1_uc002qzk.2_Intron|ITGB1BP1_uc002qzl.2_Intron|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.D102G|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.D146G	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	146	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CCCCAGACCGTCATCGTAACA	0.488													C	9547672	T	C	9547672	3	2	274	1	0	0	0	0	1	0	0	0	7891	1667	58	3	173	3	ITGB1BP1	2	9547672	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	5856143	9547672	233651701	186	139492											
PDIA6	10130	broad.mit.edu	37	chr2	10929969	10929969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccgtcataatccacaGgagactcgcctttctgaaat	7	14	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:10929969G>T	uc002rau.2	-	8	884	c.746C>A	c.(745-747)CCT>CAT	p.P249H	PDIA6_uc010yjg.1_Missense_Mutation_p.P246H|PDIA6_uc002rav.2_Missense_Mutation_p.P301H|PDIA6_uc010yjh.1_Missense_Mutation_p.P254H|PDIA6_uc002raw.2_Missense_Mutation_p.P297H	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	protein disulfide isomerase A6 precursor	249	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATAATCCACAGGAGACTCGCC	0.428													T	10929969	G	T	10929969	3	4	274	1	0	0	0	0	1	0	0	0	11672	1000	35	5	600	5	PDIA6	2	10929969	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1382297	10929969	232269404	187	139493											
GREB1	9687	broad.mit.edu	37	chr2	11750894	11750894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgatggccgtaagcgGcctcccgcagatgaagaact	12	14	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:11750894G>A	uc002rbk.1	+	18	3047	c.2747G>A	c.(2746-2748)GGC>GAC	p.G916D	GREB1_uc002rbo.1_Missense_Mutation_p.G550D|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	916						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCGTAAGCGGCCTCCCGCAG	0.632													A	11750894	G	A	11750894	3	1	274	1	0	0	0	0	1	0	0	0	6760	1203	42	2	2921	2	GREB1	2	11750894	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	820925	11750894	231448479	188	139494											
GREB1	9687	broad.mit.edu	37	chr2	11759017	11759017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacggcttccacccccGcaggctgctgctcagcggcc	13	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:11759017G>A	uc002rbk.1	+	22	4316	c.4016G>A	c.(4015-4017)CGC>CAC	p.R1339H	GREB1_uc002rbp.1_Missense_Mutation_p.R337H	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1339						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCCACCCCCGCAGGCTGCTG	0.716													A	11759017	G	A	11759017	3	1	274	1	0	0	0	0	1	0	0	0	6760	1087	38	1	4206	1	GREB1	2	11759017	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8123	11759017	231440356	189	139495											
APOB	338	broad.mit.edu	37	chr2	21237354	21237354	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttctgggatgtggaagtCtggcaatcccatgttctgga	13	7	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:21237354C>A	uc002red.2	-	24	3936	c.3808G>T	c.(3808-3810)GAC>TAC	p.D1270Y		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1270					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTGGAAGTCTGGCAATCCC	0.428													A	21237354	C	A	21237354	3	1	274	1	0	0	0	0	1	0	0	0	785	913	32	5	9907	5	APOB	2	21237354	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	9478337	21237354	221962019	190	139496											
ATAD2B	54454	broad.mit.edu	37	chr2	24042724	24042724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataaagcattttcatcttcActatcctctaaaattaaagt	3	8	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:24042724A>G	uc002rek.3	-	17	2454	c.2160T>C	c.(2158-2160)AGT>AGC	p.S720S	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_5'UTR|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	720							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCATCTTCACTATCCTCTA	0.328													G	24042724	A	G	24042724	2	3	274	1	0	0	0	0	0	0	0	1	1072	156	6	3		3	ATAD2B	2	24042724	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2805370	24042724	219156649	191	139497											
C2orf84	653140	broad.mit.edu	37	chr2	24406406	24406406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaagaaatagagaaggCcaggctgcatgccagctcgc	12	10	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:24406406C>T	uc002rfc.2	+	5	379	c.293C>T	c.(292-294)GCC>GTC	p.A98V	C2orf84_uc010eyc.2_RNA	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	hypothetical protein LOC653140	98											0						ATAGAGAAGGCCAGGCTGCAT	0.423													T	24406406	C	T	24406406	3	4	274	1	0	0	0	0	1	0	0	0	2199	739	26	2	307	2	C2orf84	2	24406406	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	363682	24406406	218792967	192	139498											
NCOA1	8648	broad.mit.edu	37	chr2	24929665	24929665	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagccaaggaagtttcggAtgctcacccggaagtcagat	11	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:24929665A>C	uc002rfk.2	+	11	1584	c.1326A>C	c.(1324-1326)GGA>GGC	p.G442G	NCOA1_uc010eye.2_Silent_p.G442G|NCOA1_uc002rfi.2_Silent_p.G291G|NCOA1_uc002rfj.2_Silent_p.G442G|NCOA1_uc002rfl.2_Silent_p.G442G	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	442	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGTTTCGGATGCTCACCCG	0.463			T	PAX3	alveolar rhadomyosarcoma								C	24929665	A	C	24929665	2	2	274	1	0	0	0	0	0	0	0	1	10228	320	12	5		5	NCOA1	2	24929665	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	523259	24929665	218269708	193	139499											
ADCY3	109	broad.mit.edu	37	chr2	25043704	25043704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccccagccagaaccccGcctttgttcatgcctagggt	9	15	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:25043704G>A	uc002rfs.3	-	20	3340	c.3141C>T	c.(3139-3141)GGC>GGT	p.G1047G	ADCY3_uc002rfr.3_Silent_p.G634G|ADCY3_uc010ykm.1_Silent_p.G1048G	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1047	Cytoplasmic (Potential).				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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCAGAACCCCGCCTTTGTTCA	0.567													A	25043704	G	A	25043704	2	1	274	1	0	0	0	0	0	0	0	1	295	1074	38	1		1	ADCY3	2	25043704	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	114039	25043704	218155669	194	139500											
ADCY3	109	broad.mit.edu	37	chr2	25047330	25047330	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctcgttccagcgtcGcatctcatagacacgttcct	8	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:25047330G>A	uc002rfs.3	-	16	2852	c.2653C>T	c.(2653-2655)CGA>TGA	p.R885*	ADCY3_uc002rfr.3_Nonsense_Mutation_p.R472*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.R886*	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	885	Cytoplasmic (Potential).				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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTCCAGCGTCGCATCTCATAG	0.542													A	25047330	G	A	25047330	4	1	274	1	0	0	0	0	0	1	0	0	295	1095	38	1	805	1	ADCY3	2	25047330	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3626	25047330	218152043	195	139501											
HADHA	3030	broad.mit.edu	37	chr2	26427022	26427022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatccacggagacttgggCgatgcctgctcccatcagcc	10	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:26427022C>T	uc002rgy.2	-	12	1259	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	HADHA_uc010yks.1_Missense_Mutation_p.A290T	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	377					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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GAGACTTGGGCGATGCCTGCT	0.488													T	26427022	C	T	26427022	3	4	274	1	0	0	0	0	1	0	0	0	6943	768	27	1	1198	1	HADHA	2	26427022	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1379692	26427022	216772351	196	139502											
HADHB	3032	broad.mit.edu	37	chr2	26502871	26502871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttaataggaaaagataCagttaccaaagataatggca	7	4	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:26502871C>T	uc002rgz.2	+	10	1072	c.821C>T	c.(820-822)ACA>ATA	p.T274I	HADHB_uc010ykv.1_Missense_Mutation_p.T252I|HADHB_uc010ykw.1_Missense_Mutation_p.T259I|HADHB_uc002rha.2_Missense_Mutation_p.T151I|HADHB_uc010ykx.1_Missense_Mutation_p.T200I	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	274					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAAGATACAGTTACCAAA	0.363													T	26502871	C	T	26502871	3	4	274	1	0	0	0	0	1	0	0	0	6944	478	17	4	855	4	HADHB	2	26502871	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	75849	26502871	216696502	197	139503											
KCNK3	3777	broad.mit.edu	37	chr2	26915809	26915809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctacctgctggtgggCgccgcggtcttcgacgcgct	13	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:26915809C>T	uc002rhn.2	+	1	229	c.66C>T	c.(64-66)GGC>GGT	p.G22G		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	22	Helical; (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGTGGGCGCCGCGGTCT	0.582													T	26915809	C	T	26915809	2	4	274	1	0	0	0	0	0	0	0	1	8067	755	27	1		1	KCNK3	2	26915809	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	412938	26915809	216283564	198	139504											
AGBL5	60509	broad.mit.edu	37	chr2	27276775	27276775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcagatgacagagacGcagtttgtgttatcctttgt	10	8	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:27276775G>A	uc002rie.2	+	4	616	c.399G>A	c.(397-399)ACG>ACA	p.T133T	AGBL5_uc002ric.2_Silent_p.T133T|AGBL5_uc002rid.2_Silent_p.T133T|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	133					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAGAGACGCAGTTTGTGT	0.557													A	27276775	G	A	27276775	2	1	274	1	0	0	0	0	0	0	0	1	378	1074	38	1		1	AGBL5	2	27276775	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	360966	27276775	215922598	199	139505											
AGBL5	60509	broad.mit.edu	37	chr2	27282224	27282224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggctgccaggcctgGgctctagtacccaaaaggtc	13	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:27282224G>T	uc002rie.2	+	11	2258	c.2041G>T	c.(2041-2043)GGC>TGC	p.G681C	AGBL5_uc002rid.2_Missense_Mutation_p.G681C|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	681					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGCCTGGGCTCTAGTAC	0.592													T	27282224	G	T	27282224	3	4	274	1	0	0	0	0	1	0	0	0	378	1232	43	5	2079	5	AGBL5	2	27282224	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5449	27282224	215917149	200	139506											
CAD	790	broad.mit.edu	37	chr2	27461041	27461041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcacatatgtcacgtgGcacggaaggaggaggtaaga	15	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:27461041G>A	uc002rji.2	+	30	5008	c.4846G>A	c.(4846-4848)GCA>ACA	p.A1616T	CAD_uc010eyw.2_Missense_Mutation_p.A1553T	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1616	DHOase (dihydroorotase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATGTCACGTGGCACGGAAGGA	0.577													A	27461041	G	A	27461041	3	1	274	1	0	0	0	0	1	0	0	0	2565	1203	42	2	4964	2	CAD	2	27461041	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	178817	27461041	215738332	201	139507											
ALK	238	broad.mit.edu	37	chr2	29450527	29450527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggggtcattgtttgaggCtgcattgccgcctgagtagc	14	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:29450527C>T	uc002rmy.2	-	17	3734	c.2827G>A	c.(2827-2829)GCC>ACC	p.A943T		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	943	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTGTTTGAGGCTGCATTGCCG	0.527			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29450527	C	T	29450527	3	4	274	1	0	0	0	0	1	0	0	0	525	797	28	2	2087	2	ALK	2	29450527	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1989486	29450527	213748846	202	139508											
XDH	7498	broad.mit.edu	37	chr2	31598263	31598263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcttccaggttctcttGgcccagcttctgaaggactg	10	13	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:31598263G>T	uc002rnv.1	-	15	1664	c.1585C>A	c.(1585-1587)CAA>AAA	p.Q529K		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	529					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	AGGTTCTCTTGGCCCAGCTTC	0.552													T	31598263	G	T	31598263	3	4	274	1	0	0	0	0	1	0	0	0	17423	1357	47	5	2504	5	XDH	2	31598263	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2147736	31598263	211601110	203	139509											
SPAST	6683	broad.mit.edu	37	chr2	32289087	32289087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtttgtaggcttcgcgCtgctgcgtttggtcgccttc	13	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:32289087C>T	uc002roc.2	+	1	408	c.187C>T	c.(187-189)CTG>TTG	p.L63L	SPAST_uc002rod.2_Silent_p.L63L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	63	Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGCTTCGCGCTGCTGCGTTT	0.507													T	32289087	C	T	32289087	2	4	274	1	0	0	0	0	0	0	0	1	14996	796	28	2		2	SPAST	2	32289087	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	690824	32289087	210910286	204	139510											
NLRC4	58484	broad.mit.edu	37	chr2	32449667	32449667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggctaagttttctgaCtaatgctggatcaggtagaa	10	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:32449667C>T	uc002roi.2	-	9	3196	c.2950G>A	c.(2950-2952)GTC>ATC	p.V984I	NLRC4_uc002roj.1_Missense_Mutation_p.V984I|NLRC4_uc010ezt.1_Missense_Mutation_p.V319I	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	984	LRR 13.				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			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGTTTTCTGACTAATGCTGGA	0.378													T	32449667	C	T	32449667	3	4	274	1	0	0	0	0	1	0	0	0	10469	565	20	4	128	4	NLRC4	2	32449667	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	160580	32449667	210749706	205	139511											
BIRC6	57448	broad.mit.edu	37	chr2	32626306	32626306	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaatgtgccattgtcagtCactcttgcaacaagtcctgc	8	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:32626306C>A	uc010ezu.2	+	7	1244	c.1110C>A	c.(1108-1110)GTC>GTA	p.V370V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	370					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CATTGTCAGTCACTCTTGCAA	0.458													A	32626306	C	A	32626306	2	1	274	1	0	0	0	0	0	0	0	1	1438	813	29	5		5	BIRC6	2	32626306	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	176639	32626306	210573067	206	139512											
LTBP1	4052	broad.mit.edu	37	chr2	33525616	33525616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaggggtaccagctgTcggcagctaaagaccagtgt	15	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:33525616T>C	uc002ros.2	+	21	3337	c.3337T>C	c.(3337-3339)TCG>CCG	p.S1113P	LTBP1_uc002rot.2_Missense_Mutation_p.S787P|LTBP1_uc002rou.2_Missense_Mutation_p.S786P|LTBP1_uc002rov.2_Missense_Mutation_p.S733P|LTBP1_uc010ymz.1_Missense_Mutation_p.S786P|LTBP1_uc010yna.1_Missense_Mutation_p.S733P|LTBP1_uc010ynb.1_Missense_Mutation_p.S52P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1112	EGF-like 9; 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			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTACCAGCTGTCGGCAGCTAA	0.468													C	33525616	T	C	33525616	3	2	274	1	0	0	0	0	1	0	0	0	9073	1667	58	3	3471	3	LTBP1	2	33525616	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	899310	33525616	209673757	207	139513											
HEATR5B	54497	broad.mit.edu	37	chr2	37208749	37208749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaacggcagtttctagacGcactttcaactcaggagcag	10	11	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:37208749G>A	uc002rpp.1	-	36	6196	c.6100C>T	c.(6100-6102)CGT>TGT	p.R2034C	HEATR5B_uc002rpo.1_Missense_Mutation_p.R346C|HEATR5B_uc010ezy.1_Missense_Mutation_p.R529C	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	2034							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GTTTCTAGACGCACTTTCAAC	0.478													A	37208749	G	A	37208749	3	1	274	1	0	0	0	0	1	0	0	0	7032	1087	38	1	119	1	HEATR5B	2	37208749	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3683133	37208749	205990624	208	139514											
THADA	63892	broad.mit.edu	37	chr2	43801624	43801624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atataaaaaggagaggagaaAcccaagtctcatgccactgg	10	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:43801624A>C	uc002rsw.3	-	11	1932	c.1580T>G	c.(1579-1581)GTT>GGT	p.V527G	THADA_uc002rsx.3_Missense_Mutation_p.V527G|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.V237G|THADA_uc002rta.2_Missense_Mutation_p.V237G|THADA_uc002rtb.1_Missense_Mutation_p.V527G|THADA_uc002rtc.3_Missense_Mutation_p.V527G|THADA_uc002rtd.2_Missense_Mutation_p.V527G	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	527							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GAGAGGAGAAACCCAAGTCTC	0.383													C	43801624	A	C	43801624	3	2	274	1	0	0	0	0	1	0	0	0	15837	43	2	5	4393	5	THADA	2	43801624	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6592875	43801624	199397749	209	139515											
ABCG8	64241	broad.mit.edu	37	chr2	44099210	44099210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtttctagaaaaagtgCgtgacttagatgactttcta	8	8	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:44099210C>T	uc002rtq.2	+	7	1150	c.1060C>T	c.(1060-1062)CGT>TGT	p.R354C	ABCG8_uc010yoa.1_Missense_Mutation_p.R354C	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	354	Cytoplasmic (Potential).				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			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAAAAAGTGCGTGACTTAGA	0.537													T	44099210	C	T	44099210	3	4	274	1	0	0	0	0	1	0	0	0	72	768	27	1	1086	1	ABCG8	2	44099210	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	297586	44099210	199100163	210	139516											
PREPL	9581	broad.mit.edu	37	chr2	44556113	44556113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatatccatccatcatccaCcaggacccgcctctcaggcc	5	18	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:44556113C>A	uc002ruf.2	-	9	1527	c.1492G>T	c.(1492-1494)GTG>TTG	p.V498L	PREPL_uc002rug.2_Missense_Mutation_p.V432L|PREPL_uc002ruh.2_Missense_Mutation_p.V436L|PREPL_uc010fax.2_Missense_Mutation_p.V498L|PREPL_uc002rui.3_Missense_Mutation_p.V409L|PREPL_uc002ruj.1_Missense_Mutation_p.V409L|PREPL_uc002ruk.1_Missense_Mutation_p.V498L	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	498					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCATCATCCACCAGGACCCGC	0.428													A	44556113	C	A	44556113	3	1	274	1	0	0	0	0	1	0	0	0	12475	507	18	5	715	5	PREPL	2	44556113	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	456903	44556113	198643260	211	139517											
SIX3	6496	broad.mit.edu	37	chr2	45169339	45169339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatacttctggcgagtagCggcggcgggaacggtgcggg	18	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:45169339C>T	uc002run.1	+	1	303	c.96C>T	c.(94-96)AGC>AGT	p.S32S		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	32					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGCGAGTAgcggcggcggga	0.264													T	45169339	C	T	45169339	2	4	274	1	0	0	0	0	0	0	0	1	14348	767	27	1		1	SIX3	2	45169339	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	613226	45169339	198030034	212	139518											
SIX2	10736	broad.mit.edu	37	chr2	45235938	45235938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggtatttgcccacggcGcccaggggtcggccgcgcag	16	15	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:45235938G>A	uc002ruo.2	-	1	605	c.312C>T	c.(310-312)GGC>GGT	p.G104G	SIX2_uc002rup.2_Silent_p.G104G	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	104						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCCCACGGCGCCCAGGGGTC	0.652													A	45235938	G	A	45235938	2	1	274	1	0	0	0	0	0	0	0	1	14347	1074	38	1		1	SIX2	2	45235938	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	66599	45235938	197963435	213	139519											
SRBD1	55133	broad.mit.edu	37	chr2	45826841	45826841	+	Frame_Shift_Del	DEL	T	T	-													tttcttcttcaactttcagcTttttagtccttcgaactgta							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:45826840_45826840CT>C	uc002rus.3	-	3	472	c.396_396AG>G	c.(394-396)aagfs	p.K132fs		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	132					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			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)			CAACTTTCAGCTTTTTAGTCC	0.428													-	45826841	T	-	45826841	7	5	274	1	0	1	0	1	0	0	0	0	15132	1609	56	0	2664	0	SRBD1	2	45826841	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	590903	45826841	197372532	214	139520											
MSH6	2956	broad.mit.edu	37	chr2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C													attctgttgccggaagatacINScccccccttcttagagctta					rs63749866		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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)|p.F1088fs*5(1)|p.F1088fs*2(1)		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)			GCCGGAAGATACCCCCCCCTTC	0.436			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	48030641	-	C	48030640	7	5	274	1	0	1	1	0	0	0	0	0	9874	507	18	0	3272	0	MSH6	2	48030640	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	2203799	48030640	195168733	215	139521											
NRXN1	9378	broad.mit.edu	37	chr2	50170851	50170851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgactaacctaacccacCtgagctcggctcacaggggt	10	13	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:50170851C>A	uc010fbp.2	-	5	1819	c.1012G>T	c.(1012-1014)GGT>TGT	p.G338C	NRXN1_uc002rxb.3_Missense_Mutation_p.A1075S|NRXN1_uc010fbq.2_Missense_Mutation_p.G1443C|NRXN1_uc002rxe.3_Missense_Mutation_p.G1373C|NRXN1_uc010yon.1_Missense_Mutation_p.G38C|NRXN1_uc002rxa.3_Missense_Mutation_p.A38S	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	338	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTAACCCACCTGAGCTCGGC	0.433													A	50170851	C	A	50170851	3	1	274	1	0	0	0	0	1	0	0	0	10665	681	24	5	324	5	NRXN1	2	50170851	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2140211	50170851	193028522	216	139522											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	274	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	3996289	54167140	189032233	217	139523											
PSME4	23198	broad.mit.edu	37	chr2	54175584	54175585	+	Frame_Shift_Del	DEL	CT	CT	-													aaccaatttaatcctaggtgCtctgtcttggaatataatat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:54175583_54175584GCT>G	uc002rxp.2	-	2	530_531	c.474_475AGC>C	c.(472-477)gagcacfs	p.E158fs	PSME4_uc010yop.1_Frame_Shift_Del_p.E44fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Frame_Shift_Del_p.E158fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	158					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			AATCCTAGGTGCTCTGTCTTGG	0.351													-	54175585	CT	-	54175584	7	5	274	1	0	1	0	1	0	0	0	0	12709	796	28	0	5233	0	PSME4	2	54175584	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GU-01A-11D-A25D-08	8444	54175584	189023789	218	139524											
BCL11A	53335	broad.mit.edu	37	chr2	60687749	60687749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcatttataaggcctttcGcccgtgtggcttctcctgtg	10	12	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:60687749G>A	uc002sae.1	-	4	2526	c.2298C>T	c.(2296-2298)GGC>GGT	p.G766G	BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.G732G|BCL11A_uc002sad.1_Silent_p.G614G|BCL11A_uc002saf.1_Silent_p.G732G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	766					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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AAGGCCTTTCGCCCGTGTGGC	0.532			T	IGH@	B-CLL								A	60687749	G	A	60687749	2	1	274	1	0	0	0	0	0	0	0	1	1363	1074	38	1		1	BCL11A	2	60687749	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6512165	60687749	182511624	219	139525											
BCL11A	53335	broad.mit.edu	37	chr2	60688714	60688714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggttccggggagctggCggtggagagaccgtcgtcgg	21	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:60688714C>T	uc002sae.1	-	4	1561	c.1333G>A	c.(1333-1335)GCC>ACC	p.A445T	BCL11A_uc002sab.2_Missense_Mutation_p.A445T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A114T|BCL11A_uc010ypj.1_Missense_Mutation_p.A411T|BCL11A_uc002sad.1_Missense_Mutation_p.A293T|BCL11A_uc002saf.1_Missense_Mutation_p.A411T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	445					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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGAGCTGGCGGTGGAGAGA	0.647			T	IGH@	B-CLL								T	60688714	C	T	60688714	3	4	274	1	0	0	0	0	1	0	0	0	1363	768	27	1	1284	1	BCL11A	2	60688714	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	965	60688714	182510659	220	139526											
EHBP1	23301	broad.mit.edu	37	chr2	63206358	63206358	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgacgtcggcagctgagagaGagagctcgtcagctaatagc	14	10	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:63206358G>A	uc002sby.2	+	16	3083	c.2601G>A	c.(2599-2601)GAG>GAA	p.E867E	EHBP1_uc010fcp.2_Silent_p.E832E|EHBP1_uc002sbz.2_Silent_p.E832E|EHBP1_uc002scb.2_Silent_p.E832E	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	867	Potential.					cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGCTGAGAGAGAGAGCTCGTC	0.428									Hereditary_Prostate_Cancer				A	63206358	G	A	63206358	2	1	274	1	0	0	0	0	0	0	0	1	4975	933	33	4		4	EHBP1	2	63206358	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2517644	63206358	179993015	221	139527											
ACTR2	10097	broad.mit.edu	37	chr2	65482777	65482777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgggatataatattgaGcaagagcagaaactggcctt	11	6	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:65482777G>A	uc002sdq.2	+	6	899	c.684G>A	c.(682-684)GAG>GAA	p.E228E	ACTR2_uc010yqf.1_Silent_p.E173E|ACTR2_uc002sdp.2_Silent_p.E233E|ACTR2_uc010yqg.1_Silent_p.E176E	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	228					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0						ATAATATTGAGCAAGAGCAGA	0.378													A	65482777	G	A	65482777	2	1	274	1	0	0	0	0	0	0	0	1	211	962	34	2		2	ACTR2	2	65482777	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2276419	65482777	177716596	222	139528											
SPRED2	200734	broad.mit.edu	37	chr2	65559175	65559175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatggatggtggaagatgaCgttgttgaacctaaaaagac	12	4	0	4	rs111994933		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:65559175C>T	uc002sdr.3	-	4	919	c.384G>A	c.(382-384)ACG>ACA	p.T128T	SPRED2_uc010fcw.2_Silent_p.T125T|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	128					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TGGAAGATGACGTTGTTGAAC	0.328													T	65559175	C	T	65559175	2	4	274	1	0	0	0	0	0	0	0	1	15092	523	19	1		1	SPRED2	2	65559175	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	76398	65559175	177640198	223	139529											
ETAA1	54465	broad.mit.edu	37	chr2	67631124	67631124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatacaagtccagatgccaGgttaggagattcaaaagtat	9	6	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:67631124G>T	uc002sdz.1	+	5	1449	c.1310G>T	c.(1309-1311)AGG>ATG	p.R437M		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	437						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						CCAGATGCCAGGTTAGGAGAT	0.308													T	67631124	G	T	67631124	3	4	274	1	0	0	0	0	1	0	0	0	5267	1000	35	5	1328	5	ETAA1	2	67631124	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2071949	67631124	175568249	224	139530											
PROKR1	10887	broad.mit.edu	37	chr2	68882419	68882419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctacgtgctatgctgggCgcccttctacggcttcacca	10	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:68882419C>T	uc010yqj.1	+	2	893	c.893C>T	c.(892-894)GCG>GTG	p.A298V	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	298	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTATGCTGGGCGCCCTTCTAC	0.597													T	68882419	C	T	68882419	3	4	274	1	0	0	0	0	1	0	0	0	12552	768	27	1	899	1	PROKR1	2	68882419	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1251295	68882419	174316954	225	139531											
ANTXR1	84168	broad.mit.edu	37	chr2	69409751	69409751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatctcaacaacaatatgCgtcggccttcttccccccgg	7	15	2	0	rs144438225	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:69409751C>T	uc002sfg.2	+	16	1668	c.1312C>T	c.(1312-1314)CGT>TGT	p.R438C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	438	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						CAACAATATGCGTCGGCCTTC	0.438									Familial_Infantile_Hemangioma				T	69409751	C	T	69409751	3	4	274	1	0	0	0	0	1	0	0	0	711	768	27	1	1451	1	ANTXR1	2	69409751	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	527332	69409751	173789622	226	139532											
ANTXR1	84168	broad.mit.edu	37	chr2	69472360	69472360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaattcttttctaggggCgctgcatcaacttcaccagg	8	13	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:69472360C>T	uc002sfg.2	+	18	1794	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	480	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						TTTCTAGGGGCGCTGCATCAA	0.468									Familial_Infantile_Hemangioma				T	69472360	C	T	69472360	3	4	274	1	0	0	0	0	1	0	0	0	711	768	27	1	1585	1	ANTXR1	2	69472360	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	62609	69472360	173727013	227	139533											
CD207	50489	broad.mit.edu	37	chr2	71060989	71060989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaactgagaacgcacaTaacccaggctctcattcacc	7	14	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:71060989T>C	uc002shg.2	-	3	400	c.353A>G	c.(352-354)TAT>TGT	p.Y118C		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	118	Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2						AGAACGCACATAACCCAGGCT	0.458													C	71060989	T	C	71060989	3	2	274	1	0	0	0	0	1	0	0	0	2983	1406	49	3	649	3	CD207	2	71060989	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1588629	71060989	172138384	228	139534											
ZNF638	27332	broad.mit.edu	37	chr2	71631033	71631033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatagaaaagctgctgagTctatggtaaaattttatacc	7	5	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:71631033T>G	uc002shx.2	+	17	3182	c.2863T>G	c.(2863-2865)TCT>GCT	p.S955A	ZNF638_uc010yqw.1_Missense_Mutation_p.S534A|ZNF638_uc002shy.2_Missense_Mutation_p.S955A|ZNF638_uc002shz.2_Missense_Mutation_p.S955A|ZNF638_uc002sia.2_Missense_Mutation_p.S955A|ZNF638_uc002sib.1_Missense_Mutation_p.S955A|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.S52A	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	955	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AGCTGCTGAGTCTATGGTAAA	0.299													G	71631033	T	G	71631033	3	3	274	1	0	0	0	0	1	0	0	0	18052	1667	58	5	2925	5	ZNF638	2	71631033	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	570044	71631033	171568340	229	139535											
DYSF	8291	broad.mit.edu	37	chr2	71891503	71891503	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatcggtgagacggtcgtCgacctggagaacaggctgct	15	9	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:71891503C>T	uc002sie.2	+	45	5368	c.4992C>T	c.(4990-4992)GTC>GTT	p.V1664V	DYSF_uc010feg.2_Silent_p.V1695V|DYSF_uc010feh.2_Silent_p.V1671V|DYSF_uc002sig.3_Silent_p.V1650V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.V1685V|DYSF_uc010fef.2_Silent_p.V1702V|DYSF_uc010fei.2_Silent_p.V1681V|DYSF_uc010fek.2_Silent_p.V1682V|DYSF_uc010fej.2_Silent_p.V1672V|DYSF_uc010fel.2_Silent_p.V1651V|DYSF_uc010feo.2_Silent_p.V1696V|DYSF_uc010fem.2_Silent_p.V1686V|DYSF_uc010fen.2_Silent_p.V1703V|DYSF_uc002sif.2_Silent_p.V1665V|DYSF_uc010yqy.1_Silent_p.V545V|DYSF_uc010yqz.1_Silent_p.V425V	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1664	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGACGGTCGTCGACCTGGAGA	0.562													T	71891503	C	T	71891503	2	4	274	1	0	0	0	0	0	0	0	1	4859	871	31	1		1	DYSF	2	71891503	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	260470	71891503	171307870	230	139536											
EXOC6B	23233	broad.mit.edu	37	chr2	73052953	73052953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcccgatgcaggccgtGtcagtgctctcgatctctcg	14	13	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:73052953G>A	uc010fep.2	-	1	225	c.87C>T	c.(85-87)GAC>GAT	p.D29D	EXOC6B_uc002sij.2_Silent_p.D29D	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	29					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						TGCAGGCCGTGTCAGTGCTCT	0.716													A	73052953	G	A	73052953	2	1	274	1	0	0	0	0	0	0	0	1	5309	1368	48	4		4	EXOC6B	2	73052953	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1161450	73052953	170146420	231	139537											
CCT7	10574	broad.mit.edu	37	chr2	73476983	73476983	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagaccagtgtgaatgctCtgtcagcagatgtgctgggt	13	9	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:73476983C>A	uc002siz.2	+	9	1111	c.1009C>A	c.(1009-1011)CTG>ATG	p.L337M	CCT7_uc002sja.2_Missense_Mutation_p.L133M|CCT7_uc010yrf.1_Missense_Mutation_p.L293M|CCT7_uc010feu.2_Missense_Mutation_p.L295M|CCT7_uc010yrg.1_Missense_Mutation_p.L237M|CCT7_uc010yrh.1_Missense_Mutation_p.L209M|CCT7_uc010yri.1_Missense_Mutation_p.L250M	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	337					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						TGTGAATGCTCTGTCAGCAGA	0.597													A	73476983	C	A	73476983	3	1	274	1	0	0	0	0	1	0	0	0	2959	912	32	5	1043	5	CCT7	2	73476983	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	424030	73476983	169722390	232	139538											
EGR4	1961	broad.mit.edu	37	chr2	73518762	73518762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccggtgtgggtgcgcacGtgcgtggtgaggtggtcgct	20	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:73518762G>A	uc010yrj.1	-	2	1668	c.1593C>T	c.(1591-1593)CAC>CAT	p.H531H	EGR4_uc010yrk.1_Silent_p.H530H	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	427						intracellular	nucleic acid binding|zinc ion binding				0						GGGTGCGCACGTGCGTGGTGA	0.647													A	73518762	G	A	73518762	2	1	274	1	0	0	0	0	0	0	0	1	4974	1136	40	1		1	EGR4	2	73518762	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	41779	73518762	169680611	233	139539											
TET3	200424	broad.mit.edu	37	chr2	74327960	74327960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctgttcccacagacGcccaccaccccactcctcac	6	22	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74327960G>A	uc002skb.3	+	9	3640	c.3640G>A	c.(3640-3642)GCC>ACC	p.A1214T		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1214							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TCCCACAGACGCCCACCACCC	0.647													A	74327960	G	A	74327960	3	1	274	1	0	0	0	0	1	0	0	0	15768	1087	38	1	3674	1	TET3	2	74327960	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	809198	74327960	168871413	234	139540											
DCTN1	1639	broad.mit.edu	37	chr2	74596537	74596537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgaacccgcgcgcctgCcatgtccagctgctcccgca	9	20	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74596537C>A	uc002skx.2	-	14	1785	c.1474G>T	c.(1474-1476)GCA>TCA	p.A492S	DCTN1_uc002skv.2_Missense_Mutation_p.A358S|DCTN1_uc002sku.2_Missense_Mutation_p.A358S|DCTN1_uc002skw.1_Missense_Mutation_p.A468S|DCTN1_uc010ffd.2_Missense_Mutation_p.A472S|DCTN1_uc002sky.2_Missense_Mutation_p.A455S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	492	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						CGCGCGCCTGCCATGTCCAGC	0.597													A	74596537	C	A	74596537	3	1	274	1	0	0	0	0	1	0	0	0	4306	739	26	5	2438	5	DCTN1	2	74596537	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	268577	74596537	168602836	235	139541											
MOGS	7841	broad.mit.edu	37	chr2	74689868	74689868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagactgcctgccagtcttgGcagggcttgatttcctcctg	11	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74689868G>A	uc010ffj.2	-	4	1211	c.1048C>T	c.(1048-1050)CCA>TCA	p.P350S	MOGS_uc010ffh.2_Missense_Mutation_p.P75S|MOGS_uc010yrt.1_Missense_Mutation_p.P231S|MOGS_uc010ffi.2_Missense_Mutation_p.P244S	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	350	Lumenal (Potential).				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				0						GCCAGTCTTGGCAGGGCTTGA	0.537													A	74689868	G	A	74689868	3	1	274	1	0	0	0	0	1	0	0	0	9697	1203	42	2	1469	2	MOGS	2	74689868	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	93331	74689868	168509505	236	139542											
DQX1	165545	broad.mit.edu	37	chr2	74746315	74746315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccacatgcttatgggTtaggagaaggtaatttccag	13	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:74746315T>G	uc010yrw.1	-	11	2014	c.1849A>C	c.(1849-1851)ACC>CCC	p.T617P	DQX1_uc002smc.2_Missense_Mutation_p.T178P	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	617						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						TGCTTATGGGTTAGGAGAAGG	0.507													G	74746315	T	G	74746315	3	3	274	1	0	0	0	0	1	0	0	0	4751	1725	60	5	312	5	DQX1	2	74746315	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	56447	74746315	168453058	237	139543											
LRRTM4	80059	broad.mit.edu	37	chr2	77746550	77746550	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttaaattgttcagattGcaatgtctgaagcttattgt	8	6	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:77746550G>A	uc002snr.2	-	3	860	c.445C>T	c.(445-447)CAA>TAA	p.Q149*	LRRTM4_uc002snq.2_Nonsense_Mutation_p.Q149*|LRRTM4_uc002sns.2_Nonsense_Mutation_p.Q149*|LRRTM4_uc002snt.2_Nonsense_Mutation_p.Q150*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	149	LRR 4.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		TGTTCAGATTGCAATGTCTGA	0.393													A	77746550	G	A	77746550	4	1	274	1	0	0	0	0	0	1	0	0	9042	1328	46	2	1341	2	LRRTM4	2	77746550	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3000235	77746550	165452823	238	139544											
POLR1A	25885	broad.mit.edu	37	chr2	86255759	86255759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctccttctcgatcacccGcagcgcggcctcaatgccat	8	17	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:86255759G>A	uc002sqs.2	-	32	5234	c.4855C>T	c.(4855-4857)CGG>TGG	p.R1619W	POLR1A_uc010ytb.1_Missense_Mutation_p.R985W	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1619					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			ovary(2)|skin(1)	3						TCGATCACCCGCAGCGCGGCC	0.572													A	86255759	G	A	86255759	3	1	274	1	0	0	0	0	1	0	0	0	12209	1086	38	1	319	1	POLR1A	2	86255759	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8509209	86255759	156943614	239	139545											
PTCD3	55037	broad.mit.edu	37	chr2	86335645	86335646	+	Frame_Shift_Ins	INS	-	-	A													ttgaagaagtagtaattccaINSaaaaagaaaacttggtaagt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:86335644_86335645C>CA	uc002sqw.2	+	2	245_246	c.179_180C>CA	c.(178-180)ccafs	p.P60fs	POLR1A_uc002sqs.3_5'Flank|PTCD3_uc010ytc.1_Non-coding_Transcript	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	60						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GTAGTAATTCCAAAAAAGAAAA	0.332													A	86335646	-	A	86335645	7	5	274	1	0	1	1	0	0	0	0	0	12729	117	5	0	190	0	PTCD3	2	86335645	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	79886	86335645	156863728	240	139546											
ASTL	431705	broad.mit.edu	37	chr2	96801118	96801118	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtccccctcgatgaggAagctgctctctggggtttct	12	11	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:96801118A>C	uc010yui.1	-	3	215	c.215T>G	c.(214-216)TTC>TGC	p.F72C		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	72					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CTCGATGAGGAAGCTGCTCTC	0.607													C	96801118	A	C	96801118	3	2	274	1	0	0	0	0	1	0	0	0	1063	246	9	5	1107	5	ASTL	2	96801118	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	10465473	96801118	146398255	241	139547											
SNRNP200	23020	broad.mit.edu	37	chr2	96945221	96945221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacacatgatgacacagcGcccctcatcgtcctgcaaag	8	15	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:96945221G>A	uc002svu.2	-	36	5187	c.5101C>T	c.(5101-5103)CGC>TGC	p.R1701C	SNRNP200_uc002svt.2_Missense_Mutation_p.R311C|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1701	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						ATGACACAGCGCCCCTCATCG	0.517													A	96945221	G	A	96945221	3	1	274	1	0	0	0	0	1	0	0	0	14852	1087	38	1	1349	1	SNRNP200	2	96945221	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	144103	96945221	146254152	242	139548											
SNRNP200	23020	broad.mit.edu	37	chr2	96956165	96956165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagttgttgattgaggagggAcaggtagtactgtagctccc	14	6	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:96956165A>G	uc002svu.2	-	20	2727	c.2641T>C	c.(2641-2643)TCC>CCC	p.S881P	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	881	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TTGAGGAGGGACAGGTAGTAC	0.483													G	96956165	A	G	96956165	3	3	274	1	0	0	0	0	1	0	0	0	14852	275	10	3	3873	3	SNRNP200	2	96956165	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	10944	96956165	146243208	243	139549											
KIAA1310	55683	broad.mit.edu	37	chr2	97268532	97268532	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatttgctggaaggccagaGgtcttgctgctgatatcctg	14	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:97268532G>T	uc002swn.3	-	18	2363	c.2217C>A	c.(2215-2217)ACC>ACA	p.T739T	KIAA1310_uc002swh.3_Silent_p.T625T|KIAA1310_uc002swi.3_Silent_p.T666T|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Silent_p.T652T|KIAA1310_uc010fhz.2_Silent_p.T559T|KIAA1310_uc002swl.3_Silent_p.T638T|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Silent_p.T533T|KIAA1310_uc002swo.2_Silent_p.T87T	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	765	Ser-rich.										0						GAAGGCCAGAGGTCTTGCTGC	0.592													T	97268532	G	T	97268532	2	4	274	1	0	0	0	0	0	0	0	1	8222	987	35	5		5	KIAA1310	2	97268532	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	312367	97268532	145930841	244	139550											
KIAA1310	55683	broad.mit.edu	37	chr2	97285224	97285224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacttgccagagcctgccGcactctccttgcacacttgt	7	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:97285224G>A	uc002swn.3	-	5	681	c.535C>T	c.(535-537)CGG>TGG	p.R179W	KIAA1310_uc002swh.3_Missense_Mutation_p.R67W|KIAA1310_uc002swi.3_Missense_Mutation_p.R80W|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R92W|KIAA1310_uc010fhz.2_5'UTR|KIAA1310_uc002swl.3_Missense_Mutation_p.R80W|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_5'UTR|KIAA1310_uc002swp.1_Missense_Mutation_p.R80W|KIAA1310_uc002swq.1_5'UTR|KIAA1310_uc010fhy.1_Missense_Mutation_p.R80W	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	179											0						AGAGCCTGCCGCACTCTCCTT	0.547													A	97285224	G	A	97285224	3	1	274	1	0	0	0	0	1	0	0	0	8222	1086	38	1	2169	1	KIAA1310	2	97285224	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	16692	97285224	145914149	245	139551											
TMEM131	23505	broad.mit.edu	37	chr2	98409946	98409946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcctcaaaggatagccGccttcgaaatggctcccata	10	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:98409946G>A	uc002syh.3	-	30	3686	c.3457C>T	c.(3457-3459)CGG>TGG	p.R1153W		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1153						integral to membrane				ovary(4)|central_nervous_system(2)	6						AAGGATAGCCGCCTTCGAAAT	0.453													A	98409946	G	A	98409946	3	1	274	1	0	0	0	0	1	0	0	0	16041	1086	38	1	2242	1	TMEM131	2	98409946	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1124722	98409946	144789427	246	139552											
VWA3B	200403	broad.mit.edu	37	chr2	98914470	98914470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcacgcctgtggggggCgccatgccctgcccgctgct	13	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:98914470C>T	uc002syo.2	+	24	3522	c.3258C>T	c.(3256-3258)GGC>GGT	p.G1086G	VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.G743G|VWA3B_uc002syp.1_Silent_p.G478G|VWA3B_uc002syq.1_Silent_p.G362G|VWA3B_uc002syr.1_Silent_p.G403G|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1086										ovary(3)|large_intestine(2)|skin(1)	6						CTGTGGGGGGCGCCATGCCCT	0.592													T	98914470	C	T	98914470	2	4	274	1	0	0	0	0	0	0	0	1	17238	755	27	1		1	VWA3B	2	98914470	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	504524	98914470	144284903	247	139553											
GPR45	11250	broad.mit.edu	37	chr2	105858511	105858511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccagaggccggctatgCgctcggccatcaacctgctg	12	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:105858511C>T	uc002tco.1	+	1	312	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	66	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GCCGGCTATGCGCTCGGCCAT	0.617													T	105858511	C	T	105858511	3	4	274	1	0	0	0	0	1	0	0	0	6696	768	27	1	198	1	GPR45	2	105858511	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6944041	105858511	137340862	248	139554											
EDAR	10913	broad.mit.edu	37	chr2	109513587	109513587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctctcggcgaggtggcGccacgttttcacaacagcct	12	13	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:109513587G>A	uc002teq.3	-	12	1554	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C	EDAR_uc010fjn.2_Missense_Mutation_p.R407C|EDAR_uc010yws.1_Missense_Mutation_p.R407C	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	375	Death.|Cytoplasmic (Potential).		R -> H (in EDA; the mutant protein does not interact with EDARADD and is functionally inactive).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						GCGAGGTGGCGCCACGTTTTC	0.567													A	109513587	G	A	109513587	3	1	274	1	0	0	0	0	1	0	0	0	4905	1087	38	1	227	1	EDAR	2	109513587	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3655076	109513587	133685786	249	139555											
ANAPC1	64682	broad.mit.edu	37	chr2	112545863	112545863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagggcacagagaagagCggcaatggaagaatttgatg	14	4	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:112545863C>T	uc002thi.2	-	39	4994	c.4747G>A	c.(4747-4749)GCT>ACT	p.A1583T		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1583					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				skin(2)	2						CAGAGAAGAGCGGCAATGGAA	0.423													T	112545863	C	T	112545863	3	4	274	1	0	0	0	0	1	0	0	0	598	768	27	1	1127	1	ANAPC1	2	112545863	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3032276	112545863	130653510	250	139556											
TMEM87B	84910	broad.mit.edu	37	chr2	112847268	112847268	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatacttaatctttgcagcTgttgaaggcgtgatgagagt	11	6	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:112847268T>G	uc002thm.2	+	10	1374	c.1005T>G	c.(1003-1005)GCT>GCG	p.A335A		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	335	Helical; (Potential).					integral to membrane					0						TCTTTGCAGCTGTTGAAGGCG	0.433													G	112847268	T	G	112847268	2	3	274	1	0	0	0	0	0	0	0	1	16208	1567	55	5		5	TMEM87B	2	112847268	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	301405	112847268	130352105	251	139557											
IL1A	3552	broad.mit.edu	37	chr2	113539199	113539199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcctctgagtcattggCgatggcctccaggtcatcat	9	13	4	1	rs143855190		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:113539199C>T	uc002tig.2	-	4	1261	c.301G>A	c.(301-303)GCC>ACC	p.A101T		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	101					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			lung(1)	1						GAGTCATTGGCGATGGCCTCC	0.438													T	113539199	C	T	113539199	3	4	274	1	0	0	0	0	1	0	0	0	7650	768	27	1	530	1	IL1A	2	113539199	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	691931	113539199	129660174	252	139558											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504877	125504877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggggaggttcccctcctGgggtccagcagtgtgagtgt	16	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:125504877G>A	uc002tno.2	+	14	2510	c.2146G>A	c.(2146-2148)GGG>AGG	p.G716R	CNTNAP5_uc010flu.2_Missense_Mutation_p.G717R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	716	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCCCTCCTGGGGTCCAGCA	0.527													A	125504877	G	A	125504877	3	1	274	1	0	0	0	0	1	0	0	0	3650	1348	47	4	2200	4	CNTNAP5	2	125504877	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	11965678	125504877	117694496	253	139559											
MAP3K2	10746	broad.mit.edu	37	chr2	128079649	128079649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggctgatgtccattaCggtcaaagtaggattgtcta	14	6	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:128079649C>T	uc002toj.1	-	11	1083	c.1018G>A	c.(1018-1020)GTA>ATA	p.V340I		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	340					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATGTCCATTACGGTCAAAGTA	0.378													T	128079649	C	T	128079649	3	4	274	1	0	0	0	0	1	0	0	0	9250	536	19	1	865	1	MAP3K2	2	128079649	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2574772	128079649	115119724	254	139560											
IWS1	55677	broad.mit.edu	37	chr2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-													cactgcgtgtgcagatctgcTttttttccttatatctgtga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:128238676delT	uc002ton.2	-	14	2707	c.2404delA	c.(2404-2406)AGCfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	802					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCAGATCTGCTTTTTTTCCTT	0.423													-	128238676	T	-	128238676	7	5	274	1	0	1	0	1	0	0	0	0	7931	1609	56	0	59	0	IWS1	2	128238676	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	159027	128238676	114960697	255	139561											
LIMS2	55679	broad.mit.edu	37	chr2	128398501	128398501	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctcgcagtaggccagGcccttcttctcatagtgccg	11	13	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:128398501G>T	uc002tpa.2	-	7	889	c.723C>A	c.(721-723)GGC>GGA	p.G241G	LIMS2_uc002tou.2_Silent_p.G49G|LIMS2_uc002tov.2_Silent_p.G89G|LIMS2_uc002tow.2_Silent_p.G89G|LIMS2_uc002tox.2_Silent_p.G265G|LIMS2_uc010fmb.2_Silent_p.G151G|LIMS2_uc002toy.2_Silent_p.G236G|LIMS2_uc010yzm.1_Silent_p.G263G|LIMS2_uc002toz.2_Silent_p.G236G|LIMS2_uc002tpb.2_Silent_p.G236G	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	241	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		AGTAGGCCAGGCCCTTCTTCT	0.622													T	128398501	G	T	128398501	2	4	274	1	0	0	0	0	0	0	0	1	8804	1190	42	5		5	LIMS2	2	128398501	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	159825	128398501	114800872	256	139562											
POTEE	445582	broad.mit.edu	37	chr2	132021845	132021845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcctccctagagaagagCtacgagctgcccgatggcca	11	14	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:132021845C>A	uc002tsn.2	+	15	2869	c.2817C>A	c.(2815-2817)AGC>AGA	p.S939R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S539R|POTEE_uc002tsl.2_Missense_Mutation_p.S521R|POTEE_uc010fmy.1_Missense_Mutation_p.S403R	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	939	Actin-like.						ATP binding				0						TAGAGAAGAGCTACGAGCTGC	0.612													A	132021845	C	A	132021845	3	1	274	1	0	0	0	0	1	0	0	0	12264	796	28	5	2875	5	POTEE	2	132021845	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3623344	132021845	111177528	257	139563											
ACMSD	130013	broad.mit.edu	37	chr2	135620998	135620998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactttaaacctgtgccagCttttaaacaacgaccttgcc	5	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:135620998C>A	uc002ttz.2	+	5	350	c.283C>A	c.(283-285)CTT>ATT	p.L95I	ACMSD_uc002tua.2_Missense_Mutation_p.L37I	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	95					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCTGTGCCAGCTTTTAAACAA	0.527													A	135620998	C	A	135620998	3	1	274	1	0	0	0	0	1	0	0	0	144	797	28	5	301	5	ACMSD	2	135620998	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3599153	135620998	107578375	258	139564											
R3HDM1	23518	broad.mit.edu	37	chr2	136480084	136480084	+	Frame_Shift_Del	DEL	A	A	-													accgaggaaggagacaagctAaaaaagctgcatccacagac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:136480084delA	uc002tuo.2	+	25	3275	c.2905delA	c.(2905-2907)AAAfs	p.K969fs	R3HDM1_uc010fni.2_Frame_Shift_Del_p.K968fs|R3HDM1_uc002tup.2_Frame_Shift_Del_p.K914fs|R3HDM1_uc010zbh.1_Frame_Shift_Del_p.K717fs	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	969							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAGACAAGCTAAAAAAGCTGC	0.458													-	136480084	A	-	136480084	7	5	274	1	0	1	0	1	0	0	0	0	12887	363	13	0	2995	0	R3HDM1	2	136480084	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	859086	136480084	106719289	259	139565											
LCT	3938	broad.mit.edu	37	chr2	136570016	136570016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgtgtattccagggAtacaaactgcaacagcctcc	7	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:136570016A>G	uc002tuu.1	-	7	2229	c.2218T>C	c.(2218-2220)TCC>CCC	p.S740P		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	740	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATTCCAGGGATACAAACTGC	0.493													G	136570016	A	G	136570016	3	3	274	1	0	0	0	0	1	0	0	0	8693	333	12	3	3609	3	LCT	2	136570016	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	89932	136570016	106629357	260	139566											
THSD7B	80731	broad.mit.edu	37	chr2	137988667	137988667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctcctgagaggaagTcttgtgaaattccctgccga	9	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:137988667T>C	uc002tva.1	+	7	1684	c.1684T>C	c.(1684-1686)TCT>CCT	p.S562P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S452P	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAGAGGAAGTCTTGTGAAAT	0.473													C	137988667	T	C	137988667	3	2	274	1	0	0	0	0	1	0	0	0	15877	1667	58	3	1710	3	THSD7B	2	137988667	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1418651	137988667	105210706	261	139567											
LRP1B	53353	broad.mit.edu	37	chr2	141108494	141108494	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacatccatccctgttattcTtgaattatgttcaatatgag	5	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141108494T>G	uc002tvj.1	-	77	12736	c.11764A>C	c.(11764-11766)AGA>CGA	p.R3922R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3922	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CCTGTTATTCTTGAATTATGT	0.343										TSP Lung(27;0.18)			G	141108494	T	G	141108494	2	3	274	1	0	0	0	0	0	0	0	1	8955	1617	56	5		5	LRP1B	2	141108494	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3119827	141108494	102090879	262	139568											
LRP1B	53353	broad.mit.edu	37	chr2	141202174	141202174	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctccacaatcattctctcCatcacagatgaaagctggta	6	12	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141202174C>A	uc002tvj.1	-	64	11104	c.10132G>T	c.(10132-10134)GGA>TGA	p.G3378*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3378	Extracellular (Potential).|LDL-receptor class A 22.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TCATTCTCTCCATCACAGATG	0.403										TSP Lung(27;0.18)			A	141202174	C	A	141202174	4	1	274	1	0	0	0	0	0	1	0	0	8955	603	21	5	3779	5	LRP1B	2	141202174	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	93680	141202174	101997199	263	139569											
LRP1B	53353	broad.mit.edu	37	chr2	141259341	141259341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catttatatggcagtttctcTcatctgaaccatcgccacag	6	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141259341T>G	uc002tvj.1	-	55	9737	c.8765A>C	c.(8764-8766)GAG>GCG	p.E2922A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2922	Extracellular (Potential).|LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GCAGTTTCTCTCATCTGAACC	0.418										TSP Lung(27;0.18)			G	141259341	T	G	141259341	3	3	274	1	0	0	0	0	1	0	0	0	8955	1551	54	5	5182	5	LRP1B	2	141259341	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	57167	141259341	101940032	264	139570											
LRP1B	53353	broad.mit.edu	37	chr2	141747221	141747221	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgatcatcaggacagctatGattgactgggagggaggggg	17	6	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:141747221G>T	uc002tvj.1	-	17	3622	c.2650C>A	c.(2650-2652)CAT>AAT	p.H884N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	884	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GGACAGCTATGATTGACTGGG	0.368										TSP Lung(27;0.18)			T	141747221	G	T	141747221	3	4	274	1	0	0	0	0	1	0	0	0	8955	1290	45	5	11449	5	LRP1B	2	141747221	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	487880	141747221	101452152	265	139571											
ZEB2	9839	broad.mit.edu	37	chr2	145156636	145156636	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcttctttccagggaTggggacctggaatttgagta	14	6	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:145156636T>C	uc002tvu.2	-	8	2598	c.2118A>G	c.(2116-2118)CCA>CCG	p.P706P	ZEB2_uc002tvv.2_Silent_p.P700P|ZEB2_uc010zbm.1_Silent_p.P677P|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.P735P	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	706						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTCCAGGGATGGGGACCTGG	0.453													C	145156636	T	C	145156636	2	2	274	1	0	0	0	0	0	0	0	1	17621	1451	51	3		3	ZEB2	2	145156636	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3409415	145156636	98042737	266	139572											
RND3	390	broad.mit.edu	37	chr2	151326681	151326681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgaaaaatgtctctgacGctattttccgactgtaaagc	8	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:151326681G>A	uc002txe.2	-	5	799	c.555C>T	c.(553-555)AGC>AGT	p.S185S	RND3_uc002txf.2_Silent_p.S184S|RND3_uc002txg.2_Silent_p.S185S|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Silent_p.S48S	NM_005168	NP_005159	P61587	RND3_HUMAN	ras homolog gene family, member E precursor	185					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGTCTCTGACGCTATTTTCCG	0.418													A	151326681	G	A	151326681	2	1	274	1	0	0	0	0	0	0	0	1	13421	1078	38	1		1	RND3	2	151326681	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6170045	151326681	91872692	267	139573											
RBM43	375287	broad.mit.edu	37	chr2	152112048	152112048	+	Splice_Site	DEL	T	T	-													aaatttgacttggaaataccTtttttttctttgaatattac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284													-	152112048	T	-	152112048	8	5	274	1	0	1	0	1	0	0	1	0	13137	1623	56	0	872	0	RBM43	2	152112048	Splice_Site	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	785367	152112048	91087325	268	139574											
NEB	4703	broad.mit.edu	37	chr2	152482152	152482152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcttctgtgtataagcGctgtgaaggataaaaaggtt	12	6	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:152482152G>A	uc010fnx.2	-	67	9810	c.9619C>T	c.(9619-9621)CGC>TGC	p.R3207C		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3207	Nebulin 87.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTATAAGCGCTGTGAAGGA	0.358													A	152482152	G	A	152482152	3	1	274	1	0	0	0	0	1	0	0	0	10302	1101	38	1	15786	1	NEB	2	152482152	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	370104	152482152	90717221	269	139575											
NEB	4703	broad.mit.edu	37	chr2	152522696	152522696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgactgtctgtagttggCgttggtggcaacctcctgag	14	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:152522696C>T	uc010fnx.2	-	41	5130	c.4939G>A	c.(4939-4941)GCC>ACC	p.A1647T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1647	Nebulin 42.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGTAGTTGGCGTTGGTGGCA	0.498													T	152522696	C	T	152522696	3	4	274	1	0	0	0	0	1	0	0	0	10302	768	27	1	21315	1	NEB	2	152522696	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	40544	152522696	90676677	270	139576											
GPD2	2820	broad.mit.edu	37	chr2	157439405	157439405	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagagttccaattccagTggaccgtagttgtggaggat	13	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:157439405T>C	uc002tzf.3	+	17	2519	c.2159T>C	c.(2158-2160)GTG>GCG	p.V720A	GPD2_uc010zch.1_Missense_Mutation_p.V493A|GPD2_uc002tzd.3_Missense_Mutation_p.V720A|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	720					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						CCAATTCCAGTGGACCGTAGT	0.443													C	157439405	T	C	157439405	3	2	274	1	0	0	0	0	1	0	0	0	6606	1696	59	3	2221	3	GPD2	2	157439405	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	4916709	157439405	85759968	271	139577											
CCDC148	130940	broad.mit.edu	37	chr2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-													tgttttttcttggcccagtaTttttttatctattgtataaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:159077217delT	uc002tzq.2	-	11	1523	c.1260delA	c.(1258-1260)AAAfs	p.K420fs	CCDC148_uc002tzr.2_Frame_Shift_Del_p.K268fs|CCDC148_uc010foh.2_Frame_Shift_Del_p.K133fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	420	Glu/Lys-rich.									ovary(2)	2						TGGCCCAGTATTTTTTTATCT	0.318													-	159077217	T	-	159077217	7	5	274	1	0	1	0	1	0	0	0	0	2782	1490	52	0	531	0	CCDC148	2	159077217	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	1637812	159077217	84122156	272	139578											
TANC1	85461	broad.mit.edu	37	chr2	160035080	160035080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggaaatcataagtgCgctgccatttgtcaagcttt	8	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:160035080C>T	uc002uag.2	+	14	2190	c.1916C>T	c.(1915-1917)GCG>GTG	p.A639V	TANC1_uc010fol.1_Missense_Mutation_p.A533V|TANC1_uc010zcm.1_Missense_Mutation_p.A631V|TANC1_uc010fom.1_Missense_Mutation_p.A445V|TANC1_uc002uai.1_RNA	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	639						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						ATCATAAGTGCGCTGCCATTT	0.443													T	160035080	C	T	160035080	3	4	274	1	0	0	0	0	1	0	0	0	15541	768	27	1	1962	1	TANC1	2	160035080	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	957863	160035080	83164293	273	139579											
BAZ2B	29994	broad.mit.edu	37	chr2	160289312	160289314	+	In_Frame_Del	DEL	TCT	TCT	-													catcttcatcatcttcctcaTcttcttcttcatcatcttcc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:160289311_160289313ATCT>A	uc002uao.3	-	8	2260_2262	c.1855_1857AGAT>T	c.(1855-1857)gat>T	p.D619del	BAZ2B_uc002uap.3_In_Frame_Del_p.D617del|BAZ2B_uc002uas.1_In_Frame_Del_p.D556del|BAZ2B_uc002uaq.1_In_Frame_Del_p.D547del|BAZ2B_uc002uar.1_In_Frame_Del_p.D192del	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	619	Asp/Glu-rich (acidic).				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						catcttcctcatcttcttcttca	0.33													-	160289314	TCT	-	160289312	7	5	274	1	0	1	0	1	0	0	0	0	1332	1435	50	0	4766	0	BAZ2B	2	160289312	In_Frame_Del	DEL	TCT	TCGA-HU-A4GU-01A-11D-A25D-08	254232	160289312	82910061	274	139580											
CSRNP3	80034	broad.mit.edu	37	chr2	166535748	166535748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttctttgttattctgatGgcaccgccgttcacgaaagc	9	11	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:166535748G>A	uc002udf.2	+	7	1619	c.1243G>A	c.(1243-1245)GGC>AGC	p.G415S	CSRNP3_uc002udg.2_Missense_Mutation_p.G415S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	415					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						TTATTCTGATGGCACCGCCGT	0.433													A	166535748	G	A	166535748	3	1	274	1	0	0	0	0	1	0	0	0	3965	1348	47	4	1257	4	CSRNP3	2	166535748	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6246436	166535748	76663625	275	139581											
SCN1A	6323	broad.mit.edu	37	chr2	166905432	166905432	+	Frame_Shift_Del	DEL	A	A	-													ttccacatagtagtgcatctAaaaaaccctccaggaaataa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:166905432delA	uc010zcz.1	-	7	1010	c.992delT	c.(991-993)TTAfs	p.L331fs	SCN1A_uc002udo.3_Frame_Shift_Del_p.L200fs|SCN1A_uc010fpk.2_Frame_Shift_Del_p.L200fs	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	331	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAGTGCATCTAAAAAACCCTC	0.264													-	166905432	A	-	166905432	7	5	274	1	0	1	0	1	0	0	0	0	13914	372	13	0	5117	0	SCN1A	2	166905432	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	369684	166905432	76293941	276	139582											
SCN1A	6323	broad.mit.edu	37	chr2	166909417	166909417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgaatgttctcaatgcCgagacattgcccaggtccac	8	13	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:166909417C>T	uc010zcz.1	-	5	657	c.639G>A	c.(637-639)TCG>TCA	p.S213S	SCN1A_uc002udo.3_Silent_p.S82S|SCN1A_uc010fpk.2_Silent_p.S82S	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	213	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCTCAATGCCGAGACATTGC	0.438													T	166909417	C	T	166909417	2	4	274	1	0	0	0	0	0	0	0	1	13914	639	23	1		1	SCN1A	2	166909417	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3985	166909417	76289956	277	139583											
XIRP2	129446	broad.mit.edu	37	chr2	168102667	168102667	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaaatacaagctaatgAaccaagcatctcctgagata	7	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:168102667A>C	uc002udx.2	+	8	4783	c.4765A>C	c.(4765-4767)AAC>CAC	p.N1589H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1414H|XIRP2_uc010fpq.2_Missense_Mutation_p.N1367H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1414					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAAGCTAATGAACCAAGCATC	0.388													C	168102667	A	C	168102667	3	2	274	1	0	0	0	0	1	0	0	0	17427	246	9	5	4795	5	XIRP2	2	168102667	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1193250	168102667	75096706	278	139584											
PPIG	9360	broad.mit.edu	37	chr2	170493811	170493811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aataacagcagggaaaaaaaGgctgatagagatcaaagtcc	10	6	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:170493811G>T	uc002uez.2	+	14	2263	c.2043G>T	c.(2041-2043)AAG>AAT	p.K681N	PPIG_uc010fpx.2_Missense_Mutation_p.K666N|PPIG_uc010fpy.2_Missense_Mutation_p.K674N|PPIG_uc002ufb.2_Missense_Mutation_p.K681N|PPIG_uc002ufd.2_Missense_Mutation_p.K678N	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	681					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	GGGAAAAAAAGGCTGATAGAG	0.353													T	170493811	G	T	170493811	3	4	274	1	0	0	0	0	1	0	0	0	12324	991	35	5	2089	5	PPIG	2	170493811	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2391144	170493811	72705562	279	139585											
WIPF1	7456	broad.mit.edu	37	chr2	175436932	175436932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcactggtggggacccccGgttgtgcggacttgattgaa	17	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:175436932G>A	uc002uiy.2	-	6	933	c.601C>T	c.(601-603)CGG>TGG	p.R201W	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R201W|WIPF1_uc010fqt.1_Missense_Mutation_p.R201W|WIPF1_uc002ujc.1_Missense_Mutation_p.R201W|WIPF1_uc002uiz.2_Missense_Mutation_p.R201W|WIPF1_uc002ujb.1_Missense_Mutation_p.R201W|WIPF1_uc010zep.1_Missense_Mutation_p.R201W	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	201					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GGGGACCCCCGGTTGTGCGGA	0.657													A	175436932	G	A	175436932	3	1	274	1	0	0	0	0	1	0	0	0	17364	1115	39	1	926	1	WIPF1	2	175436932	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4943121	175436932	67762441	280	139586											
MTX2	10651	broad.mit.edu	37	chr2	177134392	177134392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccttcgtctcccagaTtgcaggtagcgcggctggcc	14	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:177134392T>C	uc002ukx.2	+	1	270	c.35T>C	c.(34-36)ATT>ACT	p.I12T	MTX2_uc002ukw.2_5'UTR	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	12					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			GTCTCCCAGATTGCAGGTAGC	0.706													C	177134392	T	C	177134392	3	2	274	1	0	0	0	0	1	0	0	0	9968	1493	52	3	37	3	MTX2	2	177134392	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1697460	177134392	66064981	281	139587											
PDE11A	50940	broad.mit.edu	37	chr2	178936667	178936668	+	Frame_Shift_Ins	INS	-	-	G													tgagaatatgggctgtggtgINSgggggcagggagcttgcctt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:178936666_178936667T>TG	uc002ulq.3	-	0	816_817	c.498_499A>CA	c.(496-501)cccaccfs	p.P166fs	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	166					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.P165L(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)			TGGGCTGTGGTGGGGGGCAGGG	0.564									Primary Pigmented Nodular Adrenocortical Disease, Familial				G	178936668	-	G	178936667	7	5	274	1	0	1	1	0	0	0	0	0	11631	1335	47	0	2383	0	PDE11A	2	178936667	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1802275	178936667	64262706	282	139588											
PRKRA	8575	broad.mit.edu	37	chr2	179296888	179296888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcatcactttgtgcaTtgccacaggagataccggag	12	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179296888T>G	uc002umf.2	-	8	1079	c.878A>C	c.(877-879)AAT>ACT	p.N293T	PRKRA_uc002umc.2_Missense_Mutation_p.N125T|PRKRA_uc002umd.2_Missense_Mutation_p.N268T|PRKRA_uc002ume.2_Missense_Mutation_p.N282T|PRKRA_uc002umg.2_Missense_Mutation_p.N180T|uc002umb.1_Intron|PRKRA_uc002umh.1_RNA	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	293	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTTTGTGCATTGCCACAGGA	0.418													G	179296888	T	G	179296888	3	3	274	1	0	0	0	0	1	0	0	0	12524	1493	52	5	67	5	PRKRA	2	179296888	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	360221	179296888	63902485	283	139589											
TTN	7273	broad.mit.edu	37	chr2	179471853	179471853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtccctcaagcagacCtgtgatgtcacatttagatc	7	11	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179471853C>A	uc010zfg.1	-	227	45996	c.45772G>T	c.(45772-45774)GGT>TGT	p.G15258C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8953C|TTN_uc010zfi.1_Missense_Mutation_p.G8886C|TTN_uc010zfj.1_Missense_Mutation_p.G8761C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16185							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGCAGACCTGTGATGTCA	0.413													A	179471853	C	A	179471853	3	1	274	1	0	0	0	0	1	0	0	0	16732	681	24	5	54557	5	TTN	2	179471853	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	174965	179471853	63727520	284	139590											
TTN	7273	broad.mit.edu	37	chr2	179546140	179546140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtttcttaggaatgggCactggtactttttcttcagg	11	6	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179546140C>T	uc010zfg.1	-	134	29702	c.29478G>A	c.(29476-29478)GTG>GTA	p.V9826V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V6487V|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10753							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGAATGGGCACTGGTACTT	0.343													T	179546140	C	T	179546140	2	4	274	1	0	0	0	0	0	0	0	1	16732	697	25	2		2	TTN	2	179546140	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	74287	179546140	63653233	285	139591											
TTN	7273	broad.mit.edu	37	chr2	179591924	179591924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgttcatctgtatgacgGccactgagtcaatgaaagtc	10	8	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179591924G>T	uc010zfg.1	-	66	16660	c.16436C>A	c.(16435-16437)GCC>GAC	p.A5479D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2140D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6406							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTATGACGGCCACTGAGTC	0.453													T	179591924	G	T	179591924	3	4	274	1	0	0	0	0	1	0	0	0	16732	1203	42	5	84537	5	TTN	2	179591924	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	45784	179591924	63607449	286	139592											
TTN	7273	broad.mit.edu	37	chr2	179611032	179611032	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttttagttctttgtcTtctccctcccttgaatccat	3	12	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:179611032T>G	uc002unb.2	-	46	16319	c.16095A>C	c.(16093-16095)GAA>GAC	p.E5365D	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCTTTGTCTTCTCCCTCCC	0.328													G	179611032	T	G	179611032	3	3	274	1	0	0	0	0	1	0	0	0	16732	1606	56	5	94202	5	TTN	2	179611032	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	19108	179611032	63588341	287	139593											
ITGA4	3676	broad.mit.edu	37	chr2	182323028	182323028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatcccggccagacgtgCgaacagctccagctgggtga	13	12	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:182323028C>T	uc002unu.2	+	2	1066	c.303C>T	c.(301-303)TGC>TGT	p.C101C	ITGA4_uc002unt.2_Silent_p.C101C|ITGA4_uc010zfl.1_Silent_p.C101C	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	101	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCCAGACGTGCGAACAGCTCC	0.587													T	182323028	C	T	182323028	2	4	274	1	0	0	0	0	0	0	0	1	7878	776	27	1		1	ITGA4	2	182323028	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2711996	182323028	60876345	288	139594											
SSFA2	6744	broad.mit.edu	37	chr2	182784139	182784139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagcttcgtgctgtgcGcatgccttcacccttccgct	11	15	1	0	rs150716378	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:182784139G>A	uc002uoi.2	+	14	3432	c.3110G>A	c.(3109-3111)CGC>CAC	p.R1037H	SSFA2_uc002uoh.2_Missense_Mutation_p.R1037H|SSFA2_uc002uoj.2_Missense_Mutation_p.R1037H|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R884H|SSFA2_uc002uol.2_Missense_Mutation_p.R884H|SSFA2_uc002uom.2_Missense_Mutation_p.R505H	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1037	Potential.					cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532													A	182784139	G	A	182784139	3	1	274	1	0	0	0	0	1	0	0	0	15182	1087	38	1	3164	1	SSFA2	2	182784139	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	461111	182784139	60415234	289	139595											
COL5A2	1290	broad.mit.edu	37	chr2	189917496	189917496	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaccttgggttcctcgAccaccttttagtccaggaac	11	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:189917496A>G	uc002uqk.2	-	40	2969	c.2694T>C	c.(2692-2694)GGT>GGC	p.G898G	COL5A2_uc010frx.2_Silent_p.G474G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	898					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGTTCCTCGACCACCTTTTA	0.418													G	189917496	A	G	189917496	2	3	274	1	0	0	0	0	0	0	0	1	3697	262	10	3		3	COL5A2	2	189917496	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	7133357	189917496	53281877	290	139596											
ALS2CR4	65062	broad.mit.edu	37	chr2	202496851	202496851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacagactgctgttccacaGtagtttgctcatcagtgatt	8	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:202496851G>T	uc002uyh.1	-	8	577	c.476C>A	c.(475-477)ACT>AAT	p.T159N	ALS2CR4_uc002uyg.1_Missense_Mutation_p.T151N|ALS2CR4_uc010zho.1_Translation_Start_Site|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	183						integral to membrane	protein binding				0						CTGTTCCACAGTAGTTTGCTC	0.428													T	202496851	G	T	202496851	3	4	274	1	0	0	0	0	1	0	0	0	554	1029	36	5	778	5	ALS2CR4	2	202496851	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	12579355	202496851	40702522	291	139597											
NRP2	8828	broad.mit.edu	37	chr2	206610590	206610590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggggattgggatgcggctgGaggtgctgggctgtgactgg	22	6	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:206610590G>A	uc002vaw.2	+	10	2553	c.1762G>A	c.(1762-1764)GAG>AAG	p.E588K	NRP2_uc002vau.2_Missense_Mutation_p.E588K|NRP2_uc002vav.2_Missense_Mutation_p.E588K|NRP2_uc002vax.2_Missense_Mutation_p.E588K|NRP2_uc002vay.2_Missense_Mutation_p.E588K	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	588	Extracellular (Potential).|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			skin(2)|ovary(1)|central_nervous_system(1)	4						GATGCGGCTGGAGGTGCTGGG	0.602													A	206610590	G	A	206610590	3	1	274	1	0	0	0	0	1	0	0	0	10661	1175	41	4	1827	4	NRP2	2	206610590	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4113739	206610590	36588783	292	139598											
GPR1	2825	broad.mit.edu	37	chr2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-													ccaggctgatcactgtcaggAaaaaaacactggcaaacatg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:207041591_207041591GA>G	uc021vvl.1	-	0	381	c.381_381TC>C	c.(379-381)ttcfs	p.F127fs	GPR1_uc002vbl.4_Frame_Shift_Del_p.F127fs|GPR1_uc010fue.3_Frame_Shift_Del_p.F127fs|GPR1_uc010fuf.3_Frame_Shift_Del_p.F127fs	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	127						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)		TCACTGTCAGGAAAAAAACAC	0.458													-	207041592	A	-	207041592	7	5	274	1	0	1	0	1	0	0	0	0	6621	246	9	0	691	0	GPR1	2	207041592	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	431002	207041592	36157781	293	139599											
MDH1B	130752	broad.mit.edu	37	chr2	207619965	207619965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctgcttcggaggcagtcCtccagagtgaacacctcctt	9	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:207619965C>A	uc002vbs.2	-	5	733	c.678G>T	c.(676-678)GAG>GAT	p.E226D	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.E226D|MDH1B_uc010fuj.2_Missense_Mutation_p.E128D|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	226					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GGAGGCAGTCCTCCAGAGTGA	0.567													A	207619965	C	A	207619965	3	1	274	1	0	0	0	0	1	0	0	0	9409	680	24	5	910	5	MDH1B	2	207619965	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	578373	207619965	35579408	294	139600											
CRYGA	1418	broad.mit.edu	37	chr2	209028137	209028137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgatgcaattgtagcagcGaccctgaaagtctcggtcct	10	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:209028137G>A	uc002vcq.3	-	2	60	c.43C>T	c.(43-45)CGC>TGC	p.R15C		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	15	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TTGTAGCAGCGACCCTGAAAG	0.552													A	209028137	G	A	209028137	3	1	274	1	0	0	0	0	1	0	0	0	3914	1058	37	1	489	1	CRYGA	2	209028137	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1408172	209028137	34171236	295	139601											
ATIC	471	broad.mit.edu	37	chr2	216197139	216197139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatttataaacttgtgCgatgctttgaacgcctggca	10	9	0	1	rs143393493	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:216197139C>T	uc002vex.3	+	8	897	c.723C>T	c.(721-723)TGC>TGT	p.C241C	ATIC_uc010zjo.1_Silent_p.C182C|ATIC_uc002vey.3_Silent_p.C240C	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	241					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		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)	TAAACTTGTGCGATGCTTTGA	0.448			T	ALK	ALCL								T	216197139	C	T	216197139	2	4	274	1	0	0	0	0	0	0	0	1	1105	776	27	1		1	ATIC	2	216197139	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7169002	216197139	27002234	296	139602											
VIL1	7429	broad.mit.edu	37	chr2	219299403	219299403	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttgtcctcaagacccagtCttgctgctatctatggtgtg	9	11	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:219299403C>T	uc002via.2	+	14	1720	c.1655C>T	c.(1654-1656)TCT>TTT	p.S552F	VIL1_uc010zke.1_Missense_Mutation_p.S241F|VIL1_uc002vib.2_Missense_Mutation_p.S552F	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	552	Gelsolin-like 5.|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			ovary(1)	1		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)		AAGACCCAGTCTTGCTGCTAT	0.577													T	219299403	C	T	219299403	3	4	274	1	0	0	0	0	1	0	0	0	17161	913	32	4	1705	4	VIL1	2	219299403	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3102264	219299403	23899970	297	139603											
WNT10A	80326	broad.mit.edu	37	chr2	219746928	219746928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcctccccccggagccCgtgctcaatgccaacacagt	8	20	1	0	rs143421847		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:219746928C>T	uc002vjd.1	+	2	622	c.159C>T	c.(157-159)CCC>CCT	p.P53P		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	53					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			lung(1)|skin(1)	2		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)		CCCCGGAGCCCGTGCTCAATG	0.622													T	219746928	C	T	219746928	2	4	274	1	0	0	0	0	0	0	0	1	17379	639	23	1		1	WNT10A	2	219746928	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	447525	219746928	23452445	298	139604											
STK16	8576	broad.mit.edu	37	chr2	220111501	220111501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaagccgacatgcatcGcctcttcaatcaccccaaca	7	16	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:220111501G>A	uc002vko.2	+	3	366	c.209G>A	c.(208-210)CGC>CAC	p.R70H	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Missense_Mutation_p.R70H|STK16_uc010fwf.2_Missense_Mutation_p.R70H|STK16_uc002vkp.2_Missense_Mutation_p.R70H|STK16_uc002vkr.2_Missense_Mutation_p.R3H|STK16_uc002vkq.2_Missense_Mutation_p.R115H	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	70	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)		GACATGCATCGCCTCTTCAAT	0.577													A	220111501	G	A	220111501	3	1	274	1	0	0	0	0	1	0	0	0	15288	1087	38	1	215	1	STK16	2	220111501	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	364573	220111501	23087872	299	139605											
DES	1674	broad.mit.edu	37	chr2	220286144	220286144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccaggacaacattgcgcGcctggaggaggaaatccggc	13	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:220286144G>A	uc002vll.2	+	6	1192	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	369	Rod.|Coil 2B.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		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)		AACATTGCGCGCCTGGAGGAG	0.587													A	220286144	G	A	220286144	3	1	274	1	0	0	0	0	1	0	0	0	4449	1087	38	1	1128	1	DES	2	220286144	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	174643	220286144	22913229	300	139606											
EPHA4	2043	broad.mit.edu	37	chr2	222290845	222290845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgtgatggctgtgataCcaattcttgccaggtccctg	13	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:222290845C>T	uc002vmq.2	-	17	2906	c.2864G>A	c.(2863-2865)GGT>GAT	p.G955D	EPHA4_uc002vmr.2_3'UTR|EPHA4_uc010zlm.1_Missense_Mutation_p.G896D|EPHA4_uc010zln.1_Missense_Mutation_p.G955D	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	955	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		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)		GGCTGTGATACCAATTCTTGC	0.502													T	222290845	C	T	222290845	3	4	274	1	0	0	0	0	1	0	0	0	5169	507	18	4	100	4	EPHA4	2	222290845	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2004701	222290845	20908528	301	139607											
SPHKAP	80309	broad.mit.edu	37	chr2	228881852	228881852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggggatctgctgtctgGcatggacgactgtctgtggc	16	9	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:228881852G>A	uc002vpq.2	-	7	3765	c.3718C>T	c.(3718-3720)CCA>TCA	p.P1240S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P1240S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1240S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1240						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		CTGCTGTCTGGCATGGACGAC	0.557													A	228881852	G	A	228881852	3	1	274	1	0	0	0	0	1	0	0	0	15047	1203	42	2	1408	2	SPHKAP	2	228881852	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6591007	228881852	14317521	302	139608											
SP100	6672	broad.mit.edu	37	chr2	231368993	231368993	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcactctatataaggagCgattcaaacaaggtgagttt	11	6	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:231368993C>T	uc002vqt.2	+	21	1999	c.1858C>T	c.(1858-1860)CGA>TGA	p.R620*	SP100_uc002vqs.2_Nonsense_Mutation_p.R620*|SP100_uc002vqu.1_Nonsense_Mutation_p.R620*|SP100_uc010fxp.1_5'UTR	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	620	SAND.				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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		ATATAAGGAGCGATTCAAACA	0.393													T	231368993	C	T	231368993	4	4	274	1	0	0	0	0	0	1	0	0	14960	760	27	1	1940	1	SP100	2	231368993	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2487141	231368993	11830380	303	139609											
EFHD1	80303	broad.mit.edu	37	chr2	233527580	233527580	+	Frame_Shift_Del	DEL	C	C	-													gatgatggagaagctgggggCcccccagacccacctgggcc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:233527579_233527579GC>G	uc002vtc.3	+	1	578	c.370_370GC>G	c.(370-372)gccfs	p.A124fs	EFHD1_uc010fyf.3_Frame_Shift_Del_p.A28fs|EFHD1_uc002vtd.3_Frame_Shift_Del_p.A12fs	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	124	EF-hand 1.						calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAAGCTGGGGGCCCCCCAGAC	0.602													-	233527580	C	-	233527580	7	5	274	1	0	1	0	1	0	0	0	0	4948	739	26	0	377	0	EFHD1	2	233527580	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	2158587	233527580	9671793	304	139610											
SAG	6295	broad.mit.edu	37	chr2	234240339	234240339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattattacgtcaagcccGtggctatggaggaagcgcag	14	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:234240339G>A	uc002vuh.2	+	10	1175	c.787G>A	c.(787-789)GTG>ATG	p.V263M	SAG_uc010zmq.1_Missense_Mutation_p.V129M	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	263					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		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)		CGTCAAGCCCGTGGCTATGGA	0.552													A	234240339	G	A	234240339	3	1	274	1	0	0	0	0	1	0	0	0	13808	1145	40	1	821	1	SAG	2	234240339	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	712759	234240339	8959034	305	139611											
UGT1A5	54579	broad.mit.edu	37	chr2	234676936	234676936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaaagcatatgcaatggCgttcccatggtgatgatgcc	11	8	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:234676936C>T	uc002vuw.2	+	4	1158	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	UGT1A8_uc010zmv.1_Silent_p.G382G|UGT1A8_uc002vup.2_Silent_p.G382G|UGT1A10_uc002vuq.3_Silent_p.G382G|UGT1A10_uc002vur.2_Silent_p.G382G|UGT1A9_uc010zmw.1_Silent_p.G382G|UGT1A9_uc002vus.2_Silent_p.G382G|UGT1A7_uc010zmx.1_Silent_p.G382G|UGT1A7_uc002vut.2_Silent_p.G382G|UGT1A6_uc002vuu.2_Silent_p.G117G|UGT1A6_uc010zmy.1_Silent_p.G384G|UGT1A6_uc002vuv.3_Silent_p.G384G|UGT1A5_uc010zmz.1_Silent_p.G386G|UGT1A4_uc010zna.1_Silent_p.G386G|UGT1A4_uc002vux.2_Silent_p.G386G|UGT1A3_uc010znb.1_Silent_p.G386G|UGT1A3_uc002vuy.2_Silent_p.G386G|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Silent_p.G385G|UGT1A1_uc002vvb.2_Silent_p.G385G	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	386					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		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)		TATGCAATGGCGTTCCCATGG	0.493													T	234676936	C	T	234676936	2	4	274	1	0	0	0	0	0	0	0	1	16945	755	27	1		1	UGT1A5	2	234676936	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	436597	234676936	8522437	306	139612											
SH3BP4	23677	broad.mit.edu	37	chr2	235951518	235951518	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgtggaccaaggagtGgtacatcggctactaccagg	13	11	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:235951518G>A	uc002vvp.2	+	4	2498	c.2105G>A	c.(2104-2106)TGG>TAG	p.W702*	SH3BP4_uc010fym.2_Nonsense_Mutation_p.W702*|SH3BP4_uc002vvq.2_Nonsense_Mutation_p.W702*	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	702					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		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)		ACCAAGGAGTGGTACATCGGC	0.667													A	235951518	G	A	235951518	4	1	274	1	0	0	0	0	0	1	0	0	14246	1357	47	4	2111	4	SH3BP4	2	235951518	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1274582	235951518	7247855	307	139613											
AGAP1	116987	broad.mit.edu	37	chr2	236957795	236957795	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccacctttcccgagtcCgatctctggacctggatgac	9	16	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:236957795C>T	uc002vvs.2	+	16	2579	c.1984C>T	c.(1984-1986)CGA>TGA	p.R662*	AGAP1_uc002vvt.2_Nonsense_Mutation_p.R609*	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	662	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						TTCCCGAGTCCGATCTCTGGA	0.577													T	236957795	C	T	236957795	4	4	274	1	0	0	0	0	0	1	0	0	366	644	23	1	2046	1	AGAP1	2	236957795	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1006277	236957795	6241578	308	139614											
PASK	23178	broad.mit.edu	37	chr2	242062279	242062279	+	Frame_Shift_Del	DEL	G	G	-													ccctccagttccacagccttGgggggctcctcaaaccaggg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242062278_242062278TG>T	uc002wao.2	-	11	3074	c.2941_2941CA>A	c.(2941-2943)aagfs	p.K981fs	PASK_uc010zol.2_Frame_Shift_Del_p.K795fs|PASK_uc010zom.2_Frame_Shift_Del_p.K946fs|PASK_uc010fzl.2_Frame_Shift_Del_p.K981fs|PASK_uc010zon.2_Frame_Shift_Del_p.K762fs|PASK_uc021vzf.1_Frame_Shift_Del_p.K981fs|PASK_uc002wap.3_Frame_Shift_Del_p.K524fs|PASK_uc002waq.3_Frame_Shift_Del_p.K981fs	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	981					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)		TCCACAGCCTTGGGGGGCTCC	0.622													-	242062279	G	-	242062279	7	5	274	1	0	1	0	1	0	0	0	0	11472	1335	47	0	1059	0	PASK	2	242062279	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	5104484	242062279	1137094	309	139615											
ANO7	50636	broad.mit.edu	37	chr2	242139594	242139594	+	Frame_Shift_Del	DEL	C	C	-													tggaggttgtgccagacgtaCcccccgagtactactcctgc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242139593_242139593AC>A	uc002wax.2	+	5	772	c.669_669AC>A	c.(667-669)gtafs	p.V223fs		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	223						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						TGCCAGACGTACCCCCCGAGT	0.622													-	242139594	C	-	242139594	7	5	274	1	0	1	0	1	0	0	0	0	702	507	18	0	764	0	ANO7	2	242139594	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	77315	242139594	1059779	310	139616											
HDLBP	3069	broad.mit.edu	37	chr2	242169080	242169080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaagctgggaaattccTcagagctgctcatgtcagga	10	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242169080T>C	uc002waz.2	-	28	3971	c.3743A>G	c.(3742-3744)GAG>GGG	p.E1248G	HDLBP_uc002wba.2_Missense_Mutation_p.E1248G|HDLBP_uc002wbb.2_Missense_Mutation_p.E1200G	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1248					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		GGGAAATTCCTCAGAGCTGCT	0.582													C	242169080	T	C	242169080	3	2	274	1	0	0	0	0	1	0	0	0	7025	1551	54	3	67	3	HDLBP	2	242169080	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	29486	242169080	1030293	311	139617											
HDLBP	3069	broad.mit.edu	37	chr2	242195733	242195733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgtctcctgcatgatctCgccaaccagtctattatacg	7	14	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242195733C>T	uc002waz.2	-	7	967	c.739G>A	c.(739-741)GAG>AAG	p.E247K	HDLBP_uc002wba.2_Missense_Mutation_p.E247K|HDLBP_uc002wbb.2_Missense_Mutation_p.E268K|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	247	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		TGCATGATCTCGCCAACCAGT	0.542													T	242195733	C	T	242195733	3	4	274	1	0	0	0	0	1	0	0	0	7025	893	31	1	3155	1	HDLBP	2	242195733	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	26653	242195733	1003640	312	139618											
GAL3ST2	64090	broad.mit.edu	37	chr2	242742942	242742942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccgccacctcaggaaCgtctacgccaagaacaacat	8	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr2:242742942C>T	uc002wcj.1	+	4	689	c.558C>T	c.(556-558)AAC>AAT	p.N186N		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	186	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		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)		ACCTCAGGAACGTCTACGCCA	0.672													T	242742942	C	T	242742942	2	4	274	1	0	0	0	0	0	0	0	1	6198	535	19	1		1	GAL3ST2	2	242742942	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	547209	242742942	456431	313	139619											
CHL1	10752	broad.mit.edu	37	chr3	440833	440833	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtggaaagtactcaggTaaaattgtttcttaatgtga	11	3	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:440833T>C	uc003bou.2	+	25	3608	c.3337_splice	c.e25+2	p.V1113_splice	CHL1_uc003bot.2_Splice_Site_p.V1129_splice|CHL1_uc011asi.1_Splice_Site_p.V1076_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		AGTACTCAGGTAAAATTGTTT	0.328													C	440833	T	C	440833	5	2	274	1	0	0	0	0	0	0	1	0	3349	1652	57	3	3481	3	CHL1	3	440833	Splice_Site	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08		440833	197581597	314	139620											
CNTN6	27255	broad.mit.edu	37	chr3	1262392	1262392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtcttttaagccgtcCtatttttactcaggagccac	8	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:1262392C>A	uc003boz.2	+	3	344	c.77C>A	c.(76-78)CCT>CAT	p.P26H	CNTN6_uc010hbo.2_Missense_Mutation_p.P21H|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.P26H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	26	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		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)		TTAAGCCGTCCTATTTTTACT	0.363													A	1262392	C	A	1262392	3	1	274	1	0	0	0	0	1	0	0	0	3645	681	24	5	83	5	CNTN6	3	1262392	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	821559	1262392	196760038	315	139621											
LMCD1	29995	broad.mit.edu	37	chr3	8590439	8590439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcaagcaatataagagCgaggccctcggcgtgggaga	14	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:8590439C>T	uc003bqq.2	+	4	687	c.573C>T	c.(571-573)AGC>AGT	p.S191S	LMCD1_uc011atd.1_Silent_p.S118S|LMCD1_uc011ate.1_Silent_p.S79S|LMCD1_uc011atf.1_Silent_p.S118S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587													T	8590439	C	T	8590439	2	4	274	1	0	0	0	0	0	0	0	1	8844	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7328047	8590439	189431991	316	139622											
THUMPD3	25917	broad.mit.edu	37	chr3	9413197	9413197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attattttaagtggaaggccGacatgaccaactttgatgtg	10	6	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9413197G>A	uc003bro.3	+	4	932	c.784G>A	c.(784-786)GAC>AAC	p.D262N	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.D262N	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	262	THUMP.						methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GTGGAAGGCCGACATGACCAA	0.433													A	9413197	G	A	9413197	3	1	274	1	0	0	0	0	1	0	0	0	15881	1058	37	1	794	1	THUMPD3	3	9413197	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	822758	9413197	188609233	317	139623											
THUMPD3	25917	broad.mit.edu	37	chr3	9426223	9426223	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcgttatctggaatgCgacacgtatggcgaaaggtg	14	8	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9426223C>T	uc003bro.3	+	10	1523	c.1375C>T	c.(1375-1377)CGA>TGA	p.R459*	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Nonsense_Mutation_p.R459*	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	459							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ATCTGGAATGCGACACGTATG	0.423													T	9426223	C	T	9426223	4	4	274	1	0	0	0	0	0	1	0	0	15881	760	27	1	1409	1	THUMPD3	3	9426223	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	13026	9426223	188596207	318	139624											
SETD5	55209	broad.mit.edu	37	chr3	9512217	9512217	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actaacagctgtgctgatagAccttccctactcaactcagg	7	13	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9512217A>C	uc003brt.2	+	19	3234	c.2799A>C	c.(2797-2799)AGA>AGC	p.R933S	SETD5_uc003bru.2_Missense_Mutation_p.R835S|SETD5_uc003brv.2_Missense_Mutation_p.R822S|SETD5_uc010hck.2_Missense_Mutation_p.R415S|SETD5_uc003brx.2_Missense_Mutation_p.R602S	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	933										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTGCTGATAGACCTTCCCTAC	0.483													C	9512217	A	C	9512217	3	2	274	1	0	0	0	0	1	0	0	0	14134	272	10	5	2865	5	SETD5	3	9512217	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	85994	9512217	188510213	319	139625											
BRPF1	7862	broad.mit.edu	37	chr3	9776020	9776020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcacaagaaaaaggggCgccagtcacgcccagccaac	11	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:9776020C>T	uc003bse.2	+	2	595	c.196C>T	c.(196-198)CGC>TGC	p.R66C	BRPF1_uc003bsf.2_Missense_Mutation_p.R66C|BRPF1_uc003bsg.2_Missense_Mutation_p.R66C|BRPF1_uc011ati.1_Missense_Mutation_p.R66C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	66	Interaction with MYST3 and MYST4.				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			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GAAAAAGGGGCGCCAGTCACG	0.572													T	9776020	C	T	9776020	3	4	274	1	0	0	0	0	1	0	0	0	1520	768	27	1	198	1	BRPF1	3	9776020	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	263803	9776020	188246410	320	139626											
ATP2B2	491	broad.mit.edu	37	chr3	10401790	10401790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctgccgaggcagggcGccctccttctctgggggctg	14	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:10401790G>A	uc003bvt.2	-	13	2116	c.1677C>T	c.(1675-1677)GGC>GGT	p.G559G	ATP2B2_uc003bvv.2_Silent_p.G514G|ATP2B2_uc003bvw.2_Silent_p.G514G|ATP2B2_uc010hdo.2_Silent_p.G264G	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	559	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GAGGCAGGGCGCCCTCCTTCT	0.687													A	10401790	G	A	10401790	2	1	274	1	0	0	0	0	0	0	0	1	1140	1074	38	1		1	ATP2B2	3	10401790	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	625770	10401790	187620640	321	139627											
VGLL4	9686	broad.mit.edu	37	chr3	11600086	11600086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgggcagaggggctggCgggctggcccctgcgagagg	21	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:11600086C>T	uc003bwf.2	-	6	1183	c.817G>A	c.(817-819)GCC>ACC	p.A273T	VGLL4_uc010hdx.1_Missense_Mutation_p.A279T|VGLL4_uc003bwg.2_Missense_Mutation_p.A278T|VGLL4_uc010hdv.1_Missense_Mutation_p.A189T|VGLL4_uc010hdw.1_Missense_Mutation_p.A193T|VGLL4_uc011aun.1_Missense_Mutation_p.A214T	NM_014667	NP_055482	Q14135	VGLL4_HUMAN	vestigial like 4 isoform b	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GAGGGGCTGGCGGGCTGGCCC	0.637													T	11600086	C	T	11600086	3	4	274	1	0	0	0	0	1	0	0	0	17158	768	27	1	59	1	VGLL4	3	11600086	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1198296	11600086	186422344	322	139628											
NUP210	23225	broad.mit.edu	37	chr3	13372108	13372108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgggtccatccaggacgCggtagctcagagaggctgca	14	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:13372108C>T	uc003bxv.1	-	30	4045	c.3962G>A	c.(3961-3963)CGC>CAC	p.R1321H		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1321	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ATCCAGGACGCGGTAGCTCAG	0.502													T	13372108	C	T	13372108	3	4	274	1	0	0	0	0	1	0	0	0	10760	768	27	1	1745	1	NUP210	3	13372108	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1772022	13372108	184650322	323	139629											
NUP210	23225	broad.mit.edu	37	chr3	13429924	13429924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatgtaagaaggagggAtgtacgtagactccaagaaa	13	5	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:13429924A>G	uc003bxv.1	-	5	646	c.563T>C	c.(562-564)ATC>ACC	p.I188T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	188	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AGAAGGAGGGATGTACGTAGA	0.498													G	13429924	A	G	13429924	3	3	274	1	0	0	0	0	1	0	0	0	10760	333	12	3	5244	3	NUP210	3	13429924	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	57816	13429924	184592506	324	139630											
HDAC11	79885	broad.mit.edu	37	chr3	13542247	13542247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctccagcgaccgtggCgggggcttctgtgcctatgc	14	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:13542247C>T	uc003bxy.2	+	6	580	c.447C>T	c.(445-447)GGC>GGT	p.G149G	HDAC11_uc010heb.2_Missense_Mutation_p.A107V|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Silent_p.G121G|HDAC11_uc011auy.1_Silent_p.G98G	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	149	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			ovary(2)	2						GCGACCGTGGCGGGGGCTTCT	0.647											OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	13542247	C	T	13542247	2	4	274	1	0	0	0	0	0	0	0	1	7006	755	27	1		1	HDAC11	3	13542247	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	112323	13542247	184480183	325	139631											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115947	15115947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcataagcaaggtgggtgCgaggctctctgctgggctcc	15	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:15115947C>T	uc003bzm.1	-	14	2311	c.1697G>A	c.(1696-1698)CGC>CAC	p.R566H	ZFYVE20_uc010hek.1_Missense_Mutation_p.R566H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	566	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						AAGGTGGGTGCGAGGCTCTCT	0.572													T	15115947	C	T	15115947	3	4	274	1	0	0	0	0	1	0	0	0	17663	768	27	1	661	1	ZFYVE20	3	15115947	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1573700	15115947	182906483	326	139632											
COLQ	8292	broad.mit.edu	37	chr3	15529720	15529720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgcaccaacctgggggCcgggaggcccaggggagcct	18	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:15529720C>T	uc003bzx.2	-	3	440	c.314G>A	c.(313-315)GGC>GAC	p.G105D	HACL1_uc011avr.1_RNA|COLQ_uc003bzv.2_Missense_Mutation_p.G95D|COLQ_uc003bzz.2_Missense_Mutation_p.G105D|COLQ_uc010heo.2_Intron|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_5'UTR|COLQ_uc003cad.1_RNA	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	105	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft					0						AACCTGGGGGCCGGGAGGCCC	0.587													T	15529720	C	T	15529720	3	4	274	1	0	0	0	0	1	0	0	0	3713	739	26	2	1113	2	COLQ	3	15529720	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	413773	15529720	182492710	327	139633											
THRB	7068	broad.mit.edu	37	chr3	24169194	24169194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacagcagcgcgaagggAcatgatctccatgcagcagc	13	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:24169194A>G	uc003ccx.3	-	10	1289	c.940T>C	c.(940-942)TCC>CCC	p.S314P	THRB_uc010hfe.2_Missense_Mutation_p.S314P|THRB_uc003ccy.3_Missense_Mutation_p.S314P|THRB_uc003ccz.3_Missense_Mutation_p.S309P	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	314	Ligand-binding.|Interaction with NR2F6.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCGCGAAGGGACATGATCTCC	0.498													G	24169194	A	G	24169194	3	3	274	1	0	0	0	0	1	0	0	0	15872	275	10	3	453	3	THRB	3	24169194	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	8639474	24169194	173853236	328	139634											
RBMS3	27303	broad.mit.edu	37	chr3	29781216	29781216	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttcccttagcaacaAgagcaagacccaacaaacct	4	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:29781216A>T	uc003cel.2	+	5	635	c.405A>T	c.(403-405)CAA>CAT	p.Q135H	RBMS3_uc003cek.2_Missense_Mutation_p.Q135H|RBMS3_uc010hfq.2_Missense_Mutation_p.Q135H|RBMS3_uc003cem.2_Missense_Mutation_p.Q134H|RBMS3_uc010hfr.2_Missense_Mutation_p.Q135H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	135						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				CTTAGCAACAAGAGCAAGACC	0.363													T	29781216	A	T	29781216	3	4	274	1	0	0	0	0	1	0	0	0	13150	69	3	5	423	5	RBMS3	3	29781216	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	5612022	29781216	168241214	329	139635											
LRRFIP2	9209	broad.mit.edu	37	chr3	37114286	37114286	+	Frame_Shift_Del	DEL	T	T	-													aatttcatttcataccccaaTttttttatctttccaaagaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:37114285_37114285AT>A	uc003cgp.2	-	21	1883	c.1460_1460AT>T	c.(1459-1461)attfs	p.I487fs	LRRFIP2_uc011ayf.1_Frame_Shift_Del_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	487					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						TCATACCCCAATTTTTTTATC	0.398													-	37114286	T	-	37114286	7	5	274	1	0	1	0	1	0	0	0	0	9028	1493	52	0	738	0	LRRFIP2	3	37114286	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	7333070	37114286	160908144	330	139636											
MYD88	4615	broad.mit.edu	37	chr3	38181461	38181461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggacagcagagctggcGggcatcaccacacttgatga	12	13	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:38181461G>A	uc003chx.2	+	2	658	c.474G>A	c.(472-474)GCG>GCA	p.A158A	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Silent_p.A158A|MYD88_uc011ayi.1_Silent_p.A158A|MYD88_uc011ayj.1_Silent_p.A158A|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Intron	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	145	Intermediate domain (By similarity).				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			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAGCTGGCGGGCATCACCA	0.532			Mis 		ABC-DLBCL								A	38181461	G	A	38181461	2	1	274	1	0	0	0	0	0	0	0	1	10023	1103	39	1		1	MYD88	3	38181461	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1067175	38181461	159840969	331	139637											
SCN5A	6331	broad.mit.edu	37	chr3	38592060	38592060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcctcttcggagaggcCgctgcccgcctgctgacgga	14	15	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:38592060C>T	uc003cio.2	-	28	5997	c.5803G>A	c.(5803-5805)GGC>AGC	p.G1935S	SCN5A_uc003cin.2_Missense_Mutation_p.G1934S|SCN5A_uc003cil.3_Missense_Mutation_p.G1935S|SCN5A_uc010hhi.2_Missense_Mutation_p.G1917S|SCN5A_uc010hhk.2_Missense_Mutation_p.G1902S|SCN5A_uc011ayr.1_Missense_Mutation_p.G1881S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1935			G -> S (in BRS1).		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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	TCGGAGAGGCCGCTGCCCGCC	0.622													T	38592060	C	T	38592060	3	4	274	1	0	0	0	0	1	0	0	0	13922	652	23	1	251	1	SCN5A	3	38592060	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	410599	38592060	159430370	332	139638											
XIRP1	165904	broad.mit.edu	37	chr3	39226157	39226157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagccactgggcctggCgctactgctgactgtgacac	13	14	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:39226157C>T	uc003cjk.1	-	2	5001	c.4780G>A	c.(4780-4782)GCC>ACC	p.A1594T	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.A277T	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1594							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGGCCTGGCGCTACTGCTG	0.572													T	39226157	C	T	39226157	3	4	274	1	0	0	0	0	1	0	0	0	17426	768	27	1	755	1	XIRP1	3	39226157	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	634097	39226157	158796273	333	139639											
XIRP1	165904	broad.mit.edu	37	chr3	39227573	39227573	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtgcttgctcttcccTactgacctttctgggggctg	13	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:39227573T>G	uc003cjk.1	-	2	3585	c.3364A>C	c.(3364-3366)AGG>CGG	p.R1122R	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1122							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTCTTCCCTACTGACCTTT	0.602													G	39227573	T	G	39227573	2	3	274	1	0	0	0	0	0	0	0	1	17426	1521	53	5		5	XIRP1	3	39227573	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1416	39227573	158794857	334	139640											
XIRP1	165904	broad.mit.edu	37	chr3	39228162	39228162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggccaacagctgcacGctgctcctctcagaggcctt	10	16	1	1	rs149549006		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:39228162G>A	uc003cjk.1	-	2	2996	c.2775C>T	c.(2773-2775)AGC>AGT	p.S925S	XIRP1_uc003cji.2_Silent_p.S925S|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	925							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAGCTGCACGCTGCTCCTCT	0.642													A	39228162	G	A	39228162	2	1	274	1	0	0	0	0	0	0	0	1	17426	1078	38	1		1	XIRP1	3	39228162	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	589	39228162	158794268	335	139641											
CCR3	1232	broad.mit.edu	37	chr3	46306955	46306955	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcataactgggtttttggCcatggcatgtgtaagctcct	13	8	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:46306955C>T	uc003cpg.1	+	4	849	c.306C>T	c.(304-306)GGC>GGT	p.G102G	CCR3_uc003cpi.1_Silent_p.G102G|CCR3_uc003cpj.1_Silent_p.G102G|CCR3_uc003cpk.1_Silent_p.G123G|CCR3_uc010hjb.1_Silent_p.G120G|CCR3_uc003cpl.1_Silent_p.G135G	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	102	Extracellular (Potential).				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				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGGTTTTTGGCCATGGCATGT	0.502													T	46306955	C	T	46306955	2	4	274	1	0	0	0	0	0	0	0	1	2942	726	26	2		2	CCR3	3	46306955	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7078793	46306955	151715475	336	139642											
NBEAL2	23218	broad.mit.edu	37	chr3	47037219	47037219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcttctttaccagcagCggctcagggtttgaggcctt	11	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:47037219C>T	uc003cqp.2	+	14	2093	c.1914C>T	c.(1912-1914)AGC>AGT	p.S638S	NBEAL2_uc010hjm.1_Silent_p.S199S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	638							binding			ovary(1)	1		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)		TTACCAGCAGCGGCTCAGGGT	0.607													T	47037219	C	T	47037219	2	4	274	1	0	0	0	0	0	0	0	1	10189	767	27	1		1	NBEAL2	3	47037219	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	730264	47037219	150985211	337	139643											
NBEAL2	23218	broad.mit.edu	37	chr3	47046018	47046018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgagatatccaacttcgagTacttgatgcaactcaacacc	7	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:47046018T>C	uc003cqp.2	+	38	6411	c.6232T>C	c.(6232-6234)TAC>CAC	p.Y2078H	NBEAL2_uc010hjm.1_Missense_Mutation_p.Y1455H|NBEAL2_uc010hjn.1_Missense_Mutation_p.Y474H|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2078	BEACH.						binding			ovary(1)	1		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)		CAACTTCGAGTACTTGATGCA	0.587													C	47046018	T	C	47046018	3	2	274	1	0	0	0	0	1	0	0	0	10189	1638	57	3	6382	3	NBEAL2	3	47046018	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	8799	47046018	150976412	338	139644											
NBEAL2	23218	broad.mit.edu	37	chr3	47046463	47046464	+	Frame_Shift_Ins	INS	-	-	C													gctcgggtgggtggccagttINScccctgggtcctgcaggact							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:47046463_47046464insC	uc003cqp.2	+	39	6475_6476	c.6296_6297insC	c.(6295-6297)TTCfs	p.F2099fs	NBEAL2_uc010hjm.1_Frame_Shift_Ins_p.F1476fs|NBEAL2_uc010hjn.1_Frame_Shift_Ins_p.F495fs|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2099	BEACH.						binding			ovary(1)	1		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)		GGTGGCCAGTTCCCCTGGGTCC	0.668													C	47046464	-	C	47046463	7	5	274	1	0	1	1	0	0	0	0	0	10189	1797	62	0	6450	0	NBEAL2	3	47046463	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	445	47046463	150975967	339	139645											
COL7A1	1294	broad.mit.edu	37	chr3	48602399	48602399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagccctcatccagtgGcagggaacaggggtctgggc	17	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:48602399G>A	uc003ctz.2	-	117	8636	c.8635C>T	c.(8635-8637)CCA>TCA	p.P2879S	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2879	Nonhelical region (NC2).|BPTI/Kunitz inhibitor.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCCAGTGGCAGGGAACAG	0.612													A	48602399	G	A	48602399	3	1	274	1	0	0	0	0	1	0	0	0	3704	1203	42	2	207	2	COL7A1	3	48602399	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1555936	48602399	149420031	340	139646											
KLHDC8B	200942	broad.mit.edu	37	chr3	49213186	49213186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttattgggggtgtggcccaGggccccagtcaagccgtgga	17	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49213186G>T	uc003cwh.2	+	6	1202	c.1017G>T	c.(1015-1017)CAG>CAT	p.Q339H	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	339	Kelch 8.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGTGGCCCAGGGCCCCAGTC	0.647													T	49213186	G	T	49213186	3	4	274	1	0	0	0	0	1	0	0	0	8363	991	35	5	1035	5	KLHDC8B	3	49213186	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	610787	49213186	148809244	341	139647											
IP6K1	9807	broad.mit.edu	37	chr3	49764749	49764749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggctggtgttgctggGgctggtgctggggccacagg	21	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49764749G>T	uc003cxm.1	-	6	1447	c.1132C>A	c.(1132-1134)CCC>ACC	p.P378T	IP6K1_uc003cxn.1_Missense_Mutation_p.P213T|IP6K1_uc011bcv.1_Missense_Mutation_p.P213T|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	378					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GTGTTGCTGGGGCTGGTGCTG	0.637													T	49764749	G	T	49764749	3	4	274	1	0	0	0	0	1	0	0	0	7788	1232	43	5	197	5	IP6K1	3	49764749	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	551563	49764749	148257681	342	139648											
CAMKV	79012	broad.mit.edu	37	chr3	49899799	49899799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagttcttcttgtcgcccAgagtcacacacccaaacggc	7	14	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49899799A>G	uc003cxt.1	-	2	216	c.23T>C	c.(22-24)CTG>CCG	p.L8P	CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Missense_Mutation_p.L8P|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.L8P|CAMKV_uc011bcz.1_5'UTR|CAMKV_uc011bda.1_Missense_Mutation_p.L8P|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	8						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTGTCGCCCAGAGTCACACA	0.552													G	49899799	A	G	49899799	3	3	274	1	0	0	0	0	1	0	0	0	2608	188	7	3	1522	3	CAMKV	3	49899799	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	135050	49899799	148122631	343	139649											
MST1R	4486	broad.mit.edu	37	chr3	49936067	49936067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatgcccttaggcaacGcccacaggtcaggaagtggc	12	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:49936067G>A	uc003cxy.3	-	4	1867	c.1603C>T	c.(1603-1605)CGT>TGT	p.R535C	MST1R_uc011bdd.1_Missense_Mutation_p.R535C|MST1R_uc011bde.1_Missense_Mutation_p.R535C|MST1R_uc011bdf.1_Missense_Mutation_p.R429C|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	535	Extracellular (Potential).				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			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTTAGGCAACGCCCACAGGTC	0.607													A	49936067	G	A	49936067	3	1	274	1	0	0	0	0	1	0	0	0	9891	1087	38	1	2667	1	MST1R	3	49936067	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	36268	49936067	148086363	344	139650											
SEMA3F	6405	broad.mit.edu	37	chr3	50223449	50223449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcctgggatggccaggCctgctcccgctatacagcat	12	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:50223449C>T	uc003cyj.2	+	16	1913	c.1715C>T	c.(1714-1716)GCC>GTC	p.A572V	SEMA3F_uc003cyk.2_Missense_Mutation_p.A541V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	572					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GATGGCCAGGCCTGCTCCCGC	0.622													T	50223449	C	T	50223449	3	4	274	1	0	0	0	0	1	0	0	0	14029	739	26	2	1773	2	SEMA3F	3	50223449	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	287382	50223449	147798981	345	139651											
CACNA2D2	9254	broad.mit.edu	37	chr3	50404836	50404836	+	Frame_Shift_Del	DEL	G	G	-													gacactcaccatcctggtgtGggggcttgaagacataaccg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:50404835_50404835TG>T	uc003daq.3	-	27	2450	c.2412_2412CA>A	c.(2410-2412)ccafs	p.P804fs	CACNA2D2_uc003dap.3_Frame_Shift_Del_p.P797fs	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	804					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)	CATCCTGGTGTGGGGGCTTGA	0.622													-	50404836	G	-	50404836	7	5	274	1	0	1	0	1	0	0	0	0	2549	1348	47	0	1095	0	CACNA2D2	3	50404836	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	181387	50404836	147617594	346	139652											
RBM15B	29890	broad.mit.edu	37	chr3	51429820	51429820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggacctgatgcccgaGgatgaccagcgggccacgcg	17	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:51429820G>T	uc003dbd.2	+	1	1090	c.990G>T	c.(988-990)GAG>GAT	p.E330D		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	330					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				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGATGCCCGAGGATGACCAGC	0.622													T	51429820	G	T	51429820	3	4	274	1	0	0	0	0	1	0	0	0	13117	991	35	5	992	5	RBM15B	3	51429820	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1024984	51429820	146592610	347	139653											
RAD54L2	23132	broad.mit.edu	37	chr3	51696644	51696645	+	Frame_Shift_Ins	INS	-	-	C													ccaatgccgccctgcctggcINScccccggcccaacttatgga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:51696643_51696644G>GC	uc011bdt.2	+	21	3736_3737	c.3611_3612G>GC	c.(3610-3612)ggcfs	p.G1204fs	RAD54L2_uc003dbh.3_Frame_Shift_Ins_p.G793fs|RAD54L2_uc011bdu.2_Frame_Shift_Ins_p.G898fs|RAD54L2_uc003dbj.3_Frame_Shift_Ins_p.G530fs	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1204						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCTGCCTGGCCCCCCGGCCC	0.604													C	51696645	-	C	51696644	7	5	274	1	0	1	1	0	0	0	0	0	12994	726	26	0	3694	0	RAD54L2	3	51696644	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	266824	51696644	146325786	348	139654											
ABHD14A	25864	broad.mit.edu	37	chr3	52011901	52011901	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccagactgtggtacagacCtccatgagccggtcccaggt	11	14	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:52011901C>A	uc003dco.2	+	2	194	c.84C>A	c.(82-84)ACC>ACA	p.T28T	ABHD14B_uc003dcn.2_Intron|ABHD14A_uc010hlz.2_Silent_p.T28T|ACY1_uc011bea.1_5'UTR	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	28						cytoplasm|integral to membrane	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGTACAGACCTCCATGAGCC	0.612													A	52011901	C	A	52011901	2	1	274	1	0	0	0	0	0	0	0	1	79	668	24	5		5	ABHD14A	3	52011901	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	315257	52011901	146010529	349	139655											
STAB1	23166	broad.mit.edu	37	chr3	52548457	52548457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcggaagggtggacaccGcaactccctcctgggccctg	13	16	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:52548457G>A	uc003dej.2	+	34	3697	c.3623G>A	c.(3622-3624)CGC>CAC	p.R1208H		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1208	FAS1 4.|Extracellular (Potential).				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		GGTGGACACCGCAACTCCCTC	0.642													A	52548457	G	A	52548457	3	1	274	1	0	0	0	0	1	0	0	0	15236	1087	38	1	3757	1	STAB1	3	52548457	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	536556	52548457	145473973	350	139656											
STAB1	23166	broad.mit.edu	37	chr3	52554519	52554519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgctggagccacctgGccttggtgctcgctgtgacc	13	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:52554519G>A	uc003dej.2	+	53	5677	c.5603G>A	c.(5602-5604)GGC>GAC	p.G1868D	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1868	Extracellular (Potential).				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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		GAGCCACCTGGCCTTGGTGCT	0.647													A	52554519	G	A	52554519	3	1	274	1	0	0	0	0	1	0	0	0	15236	1203	42	2	5813	2	STAB1	3	52554519	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6062	52554519	145467911	351	139657											
CACNA2D3	55799	broad.mit.edu	37	chr3	54596848	54596848	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaattgtcaatggggTttattggtctgaatctctaa	9	8	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:54596848T>G	uc003dhf.2	+	6	614	c.566T>G	c.(565-567)GTT>GGT	p.V189G	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.V95G|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	189	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCAATGGGGTTTATTGGTCT	0.408													G	54596848	T	G	54596848	3	3	274	1	0	0	0	0	1	0	0	0	2550	1725	60	5	588	5	CACNA2D3	3	54596848	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2042329	54596848	143425582	352	139658											
IL17RD	54756	broad.mit.edu	37	chr3	57132349	57132349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctgcttggcctggcggAgcttttcggcaatggctgac	13	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:57132349A>G	uc003dil.2	-	12	1471	c.1382T>C	c.(1381-1383)CTC>CCC	p.L461P	IL17RD_uc003dik.2_Missense_Mutation_p.L437P|IL17RD_uc010hna.2_Missense_Mutation_p.L317P|IL17RD_uc011bex.1_Missense_Mutation_p.L317P	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	461	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGCCTGGCGGAGCTTTTCGGC	0.562													G	57132349	A	G	57132349	3	3	274	1	0	0	0	0	1	0	0	0	7642	304	11	3	845	3	IL17RD	3	57132349	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2535501	57132349	140890081	353	139659											
DNAH12	201625	broad.mit.edu	37	chr3	57496515	57496515	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgttagatgctacttAcccaaatatctcttcatgct	7	9	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:57496515A>G	uc003dit.2	-	5	650	c.469_splice	c.e5+1	p.V157_splice	DNAH12_uc003diu.2_Splice_Site_p.V157_splice	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						GATGCTACTTACCCAAATATC	0.398													G	57496515	A	G	57496515	5	3	274	1	0	0	0	0	0	0	1	0	4600	405	14	3	9070	3	DNAH12	3	57496515	Splice_Site	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	364166	57496515	140525915	354	139660											
KBTBD8	84541	broad.mit.edu	37	chr3	67058677	67058677	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagcagaaaaaattccctTtaccaatatgatgacattgc	5	10	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:67058677T>A	uc003dmy.2	+	4	1727	c.1674T>A	c.(1672-1674)CTT>CTA	p.L558L	KBTBD8_uc011bfv.1_Silent_p.L116L	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	558	Kelch 5.									ovary(2)|large_intestine(1)|breast(1)	4		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)		AAAATTCCCTTTACCAATATG	0.428													A	67058677	T	A	67058677	2	1	274	1	0	0	0	0	0	0	0	1	7999	1828	64	5		5	KBTBD8	3	67058677	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	9562162	67058677	130963753	355	139661											
IMPG2	50939	broad.mit.edu	37	chr3	100951720	100951720	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agactctgacagggccgttcTtccacactcaggtatccagg	10	13	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:100951720T>G	uc003duq.1	-	15	3341	c.3138A>C	c.(3136-3138)GAA>GAC	p.E1046D	IMPG2_uc011bhe.1_Missense_Mutation_p.E909D|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1046	Extracellular (Potential).|EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AGGGCCGTTCTTCCACACTCA	0.502													G	100951720	T	G	100951720	3	3	274	1	0	0	0	0	1	0	0	0	7729	1606	56	5	607	5	IMPG2	3	100951720	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	33893043	100951720	97070710	356	139662											
MYH15	22989	broad.mit.edu	37	chr3	108248155	108248155	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatacaattaaaatgatcaTatgaagtagaaatgacctaa	5	4	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:108248155T>C	uc003dxa.1	-	1	15	c.-42A>G	c.(-44--40)ATATG>ATGTG			NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AAAATGATCATATGAAGTAGA	0.363													C	108248155	T	C	108248155	1	2	274	1	0	0	0	0	0	0	0	0	10034	1421	49	3		3	MYH15	3	108248155	Translation_Start_Site	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	7296435	108248155	89774275	357	139663											
DZIP3	9666	broad.mit.edu	37	chr3	108405322	108405322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcctgggctctgccagcgCctgtgggagacgctgtgcct	15	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:108405322C>T	uc003dxd.2	+	28	3462	c.3040C>T	c.(3040-3042)CCT>TCT	p.P1014S	DZIP3_uc003dxf.1_Missense_Mutation_p.P1014S|DZIP3_uc011bhm.1_Missense_Mutation_p.P465S	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1014					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TCTGCCAGCGCCTGTGGGAGA	0.507													T	108405322	C	T	108405322	3	4	274	1	0	0	0	0	1	0	0	0	4865	739	26	2	3146	2	DZIP3	3	108405322	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	157167	108405322	89617108	358	139664											
CCDC80	151887	broad.mit.edu	37	chr3	112358362	112358362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaccccgaagggaaacGcaacattcttgaccgagctg	12	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:112358362G>A	uc003dzf.2	-	2	609	c.391C>T	c.(391-393)CGT>TGT	p.R131C	CCDC80_uc011bhv.1_Missense_Mutation_p.R131C|CCDC80_uc003dzg.2_Missense_Mutation_p.R131C|CCDC80_uc003dzh.1_Missense_Mutation_p.R131C	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	131										ovary(2)	2						GAAGGGAAACGCAACATTCTT	0.582													A	112358362	G	A	112358362	3	1	274	1	0	0	0	0	1	0	0	0	2854	1087	38	1	2489	1	CCDC80	3	112358362	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3953040	112358362	85664068	359	139665											
ZBTB20	26137	broad.mit.edu	37	chr3	114069396	114069396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctgggtagtgaagaggGctggcaggtaggtgttgcca	20	6	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:114069396G>A	uc003ebi.2	-	4	1709	c.1529C>T	c.(1528-1530)GCC>GTC	p.A510V	ZBTB20_uc003ebj.2_Missense_Mutation_p.A437V|ZBTB20_uc010hqp.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebk.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebl.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebm.2_Missense_Mutation_p.A437V|ZBTB20_uc003ebn.2_Missense_Mutation_p.A437V|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGTGAAGAGGGCTGGCAGGTA	0.612													A	114069396	G	A	114069396	3	1	274	1	0	0	0	0	1	0	0	0	17526	1203	42	2	704	2	ZBTB20	3	114069396	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1711034	114069396	83953034	360	139666											
IGSF11	152404	broad.mit.edu	37	chr3	118649028	118649028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggttaatgagggcagcGctggtagtgaaagtgcaggg	18	4	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:118649028G>A	uc003ebw.2	-	2	394	c.147C>T	c.(145-147)AGC>AGT	p.S49S	IGSF11_uc011biv.1_Silent_p.S49S|IGSF11_uc003ebx.2_Silent_p.S49S|IGSF11_uc003eby.2_Silent_p.S48S|IGSF11_uc003ebz.2_Silent_p.S48S|IGSF11_uc010hqs.2_Silent_p.S48S	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	49	Ig-like V-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						TGAGGGCAGCGCTGGTAGTGA	0.542													A	118649028	G	A	118649028	2	1	274	1	0	0	0	0	0	0	0	1	7598	1078	38	1		1	IGSF11	3	118649028	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4579632	118649028	79373402	361	139667											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134425	119134425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagatcccacagcccctgCcctctcagagctcaggggag	10	18	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:119134425C>T	uc003ecj.3	+	12	4181	c.3649C>T	c.(3649-3651)CCC>TCC	p.P1217S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1217					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ACAGCCCCTGCCCTCTCAGAG	0.587													T	119134425	C	T	119134425	3	4	274	1	0	0	0	0	1	0	0	0	880	739	26	2	3695	2	ARHGAP31	3	119134425	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	485397	119134425	78888005	362	139668											
TMEM39A	55254	broad.mit.edu	37	chr3	119165880	119165880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgggtagccaaggaaaAggagattgaggactgaatgg	15	6	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:119165880A>G	uc003eck.1	-	5	923	c.560T>C	c.(559-561)CTT>CCT	p.L187P	TMEM39A_uc003ecl.1_Missense_Mutation_p.L35P	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	187	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GCCAAGGAAAAGGAGATTGAG	0.398													G	119165880	A	G	119165880	3	3	274	1	0	0	0	0	1	0	0	0	16158	72	3	3	926	3	TMEM39A	3	119165880	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	31455	119165880	78856550	363	139669											
PLA1A	51365	broad.mit.edu	37	chr3	119325738	119325738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttcgaatcctagctgtgGgcagctagtagaaggaagca	12	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:119325738G>T	uc003ecu.2	+	2	230	c.191G>T	c.(190-192)GGG>GTG	p.G64V	PLA1A_uc003ecv.2_Missense_Mutation_p.G64V|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	64					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCTAGCTGTGGGCAGCTAGTA	0.488													T	119325738	G	T	119325738	3	4	274	1	0	0	0	0	1	0	0	0	11988	1232	43	5	197	5	PLA1A	3	119325738	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	159858	119325738	78696692	364	139670											
GOLGB1	2804	broad.mit.edu	37	chr3	121410277	121410279	+	In_Frame_Del	DEL	TCT	TCT	-													aagcacttaacctgtgtaccTcttcttcttttacttttaac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:121410276_121410278CTCT>C	uc010hrc.3	-	13	8059_8061	c.7933_7935AGAG>G	c.(7933-7935)gag>G	p.E2645del	GOLGB1_uc003eei.4_In_Frame_Del_p.E2640del|GOLGB1_uc003eej.4_In_Frame_Del_p.E2606del|GOLGB1_uc021xcy.1_In_Frame_Del_p.E2565del	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2640					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)		ACCTGTGTACCTCTTCTTCTTTT	0.389													-	121410279	TCT	-	121410277	7	5	274	1	0	1	0	1	0	0	0	0	6565	1551	54	0	1896	0	GOLGB1	3	121410277	In_Frame_Del	DEL	TCT	TCGA-HU-A4GU-01A-11D-A25D-08	2084539	121410277	76612153	365	139671											
CASR	846	broad.mit.edu	37	chr3	122003039	122003039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatctggctctacaccgcGcccccgtcaagctaccgcaa	9	17	3	1	rs149557554	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:122003039G>A	uc003eev.3	+	7	2610	c.2238G>A	c.(2236-2238)GCG>GCA	p.A746A	CASR_uc003eew.3_Silent_p.A756A	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	746	Extracellular (Potential).				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTACACCGCGCCCCCGTCAA	0.587													A	122003039	G	A	122003039	2	1	274	1	0	0	0	0	0	0	0	1	2682	1074	38	1		1	CASR	3	122003039	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	592762	122003039	76019391	366	139672											
CASR	846	broad.mit.edu	37	chr3	122003716	122003716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatctttggcagcggcaCggtcaccttctcactgagct	11	13	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:122003716C>T	uc003eev.3	+	7	3287	c.2915C>T	c.(2914-2916)ACG>ATG	p.T972M	CASR_uc003eew.3_Missense_Mutation_p.T982M	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	972	Cytoplasmic (Potential).				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCAGCGGCACGGTCACCTTC	0.582													T	122003716	C	T	122003716	3	4	274	1	0	0	0	0	1	0	0	0	2682	536	19	1	2967	1	CASR	3	122003716	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	677	122003716	76018714	367	139673											
SEMA5B	54437	broad.mit.edu	37	chr3	122641164	122641164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtgtgagaagcgcacgCtgtcctgggtgacacagggc	17	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:122641164C>T	uc003efz.1	-	11	1707	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N	SEMA5B_uc011bju.1_Missense_Mutation_p.S410N|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S468N|SEMA5B_uc010hro.1_Missense_Mutation_p.S410N|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	468	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GAAGCGCACGCTGTCCTGGGT	0.647													T	122641164	C	T	122641164	3	4	274	1	0	0	0	0	1	0	0	0	14038	797	28	2	2104	2	SEMA5B	3	122641164	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	637448	122641164	75381266	368	139674											
MYLK	4638	broad.mit.edu	37	chr3	123368044	123368044	+	Splice_Site	DEL	G	G	-													ccacttcatccttcggctctGgggggggcacaaggaaggac					rs138786404		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin 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)		CCTTCGGCTCTGGGGGGGGCA	0.622													-	123368044	G	-	123368044	8	5	274	1	0	1	0	1	0	0	1	0	10056	1363	47	0		0	MYLK	3	123368044	Splice_Site	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	726880	123368044	74654386	369	139675											
KALRN	8997	broad.mit.edu	37	chr3	124369721	124369721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctgaatgaggggatgGccccacccacacctcctaaa	10	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:124369721G>A	uc003ehg.2	+	38	5855	c.5728G>A	c.(5728-5730)GCC>ACC	p.A1910T	KALRN_uc003ehi.2_Missense_Mutation_p.A251T|KALRN_uc003ehk.2_Missense_Mutation_p.A213T|KALRN_uc011bjz.1_Missense_Mutation_p.A2T|KALRN_uc003ehj.2_Missense_Mutation_p.A181T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1909					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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TGAGGGGATGGCCCCACCCAC	0.532													A	124369721	G	A	124369721	3	1	274	1	0	0	0	0	1	0	0	0	7975	1203	42	2	6034	2	KALRN	3	124369721	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1001677	124369721	73652709	370	139676											
CCDC37	348807	broad.mit.edu	37	chr3	126154472	126154472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgggcccgggcgcgcGcccaggctgagatcaagaag	17	13	1	2	rs145096068	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:126154472G>A	uc003eiu.1	+	16	1798	c.1699G>A	c.(1699-1701)GCC>ACC	p.A567T	CCDC37_uc010hsg.1_Missense_Mutation_p.A568T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	567	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		CCGGGCGCGCGCCCAGGCTGA	0.592													A	126154472	G	A	126154472	3	1	274	1	0	0	0	0	1	0	0	0	2809	1087	38	1	1757	1	CCDC37	3	126154472	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1784751	126154472	71867958	371	139677											
PLXNA1	5361	broad.mit.edu	37	chr3	126735456	126735456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgcgcccagctcaccaaCcctgaggtgaagtacaacta	8	15	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:126735456C>T	uc003ejg.2	+	15	3046	c.3042C>T	c.(3040-3042)AAC>AAT	p.N1014N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1037	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AGCTCACCAACCCTGAGGTGA	0.622													T	126735456	C	T	126735456	2	4	274	1	0	0	0	0	0	0	0	1	12119	506	18	4		4	PLXNA1	3	126735456	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	580984	126735456	71286974	372	139678											
PLXNA1	5361	broad.mit.edu	37	chr3	126741057	126741057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgaccgcgggaatgtgGcctcgctcatcatgacggcc	14	14	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:126741057G>A	uc003ejg.2	+	21	4103	c.4099G>A	c.(4099-4101)GCC>ACC	p.A1367T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1390	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CGGGAATGTGGCCTCGCTCAT	0.607													A	126741057	G	A	126741057	3	1	274	1	0	0	0	0	1	0	0	0	12119	1203	42	2	4250	2	PLXNA1	3	126741057	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5601	126741057	71281373	373	139679											
ABTB1	80325	broad.mit.edu	37	chr3	127396115	127396115	+	Frame_Shift_Del	DEL	C	C	-													tgctggccgattgtgccctgCcccccgagctccgagtaagt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:127396115delC	uc003ejt.2	+	8	836	c.748delC	c.(748-750)CCCfs	p.P250fs	ABTB1_uc003ejr.2_Frame_Shift_Del_p.P108fs|ABTB1_uc003ejs.2_Frame_Shift_Del_p.P225fs|ABTB1_uc003eju.2_Frame_Shift_Del_p.P108fs|ABTB1_uc010hsm.2_Frame_Shift_Del_p.P10fs	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	250						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						TTGTGCCCTGCCCCCCGAGCT	0.637													-	127396115	C	-	127396115	7	5	274	1	0	1	0	1	0	0	0	0	102	739	26	0	778	0	ABTB1	3	127396115	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	655058	127396115	70626315	374	139680											
RUVBL1	8607	broad.mit.edu	37	chr3	127816207	127816207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgatagaagactccagggCgcggtgcaggtaggtgaagc	17	8	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:127816207C>T	uc003ekh.2	-	8	1056	c.952G>A	c.(952-954)GCC>ACC	p.A318T	RUVBL1_uc003eke.2_Missense_Mutation_p.A59T|RUVBL1_uc003ekf.2_Missense_Mutation_p.A258T|RUVBL1_uc010hss.2_Missense_Mutation_p.A318T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	318					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		GACTCCAGGGCGCGGTGCAGG	0.547													T	127816207	C	T	127816207	3	4	274	1	0	0	0	0	1	0	0	0	13752	768	27	1	434	1	RUVBL1	3	127816207	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	420092	127816207	70206223	375	139681											
COL6A6	131873	broad.mit.edu	37	chr3	130394240	130394240	+	Frame_Shift_Del	DEL	A	A	-													tgctcccaaacaacatgattAaaaaaatgcttgaacaactt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:130394240delA	uc010htl.2	+	36	6822	c.6791delA	c.(6790-6792)TAAfs	p.*2264fs	COL6A6_uc003eni.3_Frame_Shift_Del_p.*363fs	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	2264					axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CAACATGATTAAAAAAATGCT	0.378													-	130394240	A	-	130394240	7	5	274	1	0	1	0	1	0	0	0	0	3703	369	13	0	6933	0	COL6A6	3	130394240	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	2578033	130394240	67628190	376	139682											
PIK3R4	30849	broad.mit.edu	37	chr3	130452966	130452966	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggctcacggtgaatcatCtgagttacctataccaaggg	10	10	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:130452966C>A	uc003enj.2	-	4	1457	c.876G>T	c.(874-876)CAG>CAT	p.Q292H		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	292	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						GGTGAATCATCTGAGTTACCT	0.353													A	130452966	C	A	130452966	3	1	274	1	0	0	0	0	1	0	0	0	11921	912	32	5	3268	5	PIK3R4	3	130452966	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	58726	130452966	67569464	377	139683											
UBA5	79876	broad.mit.edu	37	chr3	132394093	132394093	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctattttgatttttctaggTttctgttaaattttggtact	6	4	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:132394093T>G	uc003epa.3	+	9	1056	c.814T>G	c.(814-816)TTT>GTT	p.F272V	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.F216V|UBA5_uc010htt.2_Missense_Mutation_p.F272V|UBA5_uc003epb.3_Missense_Mutation_p.F216V|UBA5_uc003epc.2_5'Flank	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN	ubiquitin-activating enzyme 5 isoform 1	272					protein ufmylation	aggresome|cytoplasm|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			kidney(1)	1						TTTTTCTAGGTTTCTGTTAAA	0.269													G	132394093	T	G	132394093	3	3	274	1	0	0	0	0	1	0	0	0	16827	1739	60	5	848	5	UBA5	3	132394093	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1941127	132394093	65628337	378	139684											
TOPBP1	11073	broad.mit.edu	37	chr3	133377884	133377884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtgatcaaagacaacGccactaaaagggtcacagat	10	8	2	4	rs61747713		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:133377884G>A	uc003eps.2	-	3	327	c.195C>T	c.(193-195)GGC>GGT	p.G65G		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	65					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CAAAGACAACGCCACTAAAAG	0.338								Other_conserved_DNA_damage_response_genes					A	133377884	G	A	133377884	2	1	274	1	0	0	0	0	0	0	0	1	16366	1074	38	1		1	TOPBP1	3	133377884	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	983791	133377884	64644546	379	139685											
TF	7018	broad.mit.edu	37	chr3	133485235	133485235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaccgctggctggaacatcCccatgggcctgctctacaat	10	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:133485235C>A	uc003epu.1	+	17	3172	c.1444C>A	c.(1444-1446)CCC>ACC	p.P482T	TF_uc011blt.1_Missense_Mutation_p.P355T|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.P482T	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	482	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			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGGAACATCCCCATGGGCCT	0.537													A	133485235	C	A	133485235	3	1	274	1	0	0	0	0	1	0	0	0	15782	623	22	5	1490	5	TF	3	133485235	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	107351	133485235	64537195	380	139686											
AMOTL2	51421	broad.mit.edu	37	chr3	134078146	134078146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagtcagccgagcaggggCgtctgctgtttgtcgctcac	14	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:134078146C>T	uc003eqf.2	-	8	2374	c.2257G>A	c.(2257-2259)GCC>ACC	p.A753T	AMOTL2_uc003eqg.1_Missense_Mutation_p.A695T|AMOTL2_uc003eqh.1_Missense_Mutation_p.A693T|AMOTL2_uc010htx.1_5'Flank|AMOTL2_uc003eqe.1_Missense_Mutation_p.A320T	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	695										large_intestine(1)	1						CGAGCAGGGGCGTCTGCTGTT	0.587													T	134078146	C	T	134078146	3	4	274	1	0	0	0	0	1	0	0	0	584	768	27	1	271	1	AMOTL2	3	134078146	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	592911	134078146	63944284	381	139687											
EPHB1	2047	broad.mit.edu	37	chr3	134880956	134880956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatatgtggtacaggtgCgtgcccgcactgttgctggc	15	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:134880956C>T	uc003eqt.2	+	7	1739	c.1519C>T	c.(1519-1521)CGT>TGT	p.R507C	EPHB1_uc003equ.2_Missense_Mutation_p.R68C	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	507	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						GGTACAGGTGCGTGCCCGCAC	0.552													T	134880956	C	T	134880956	3	4	274	1	0	0	0	0	1	0	0	0	5174	768	27	1	1545	1	EPHB1	3	134880956	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	802810	134880956	63141474	382	139688											
STAG1	10274	broad.mit.edu	37	chr3	136287655	136287655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgattaaatccagaagtgCgatgtccctgtcttgtttat	9	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:136287655C>T	uc003era.1	-	5	638	c.346G>A	c.(346-348)GCA>ACA	p.A116T	STAG1_uc003erb.1_Missense_Mutation_p.A116T|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003erd.2_Missense_Mutation_p.A19T|STAG1_uc003ere.2_Missense_Mutation_p.A116T	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	116					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TCCAGAAGTGCGATGTCCCTG	0.348													T	136287655	C	T	136287655	3	4	274	1	0	0	0	0	1	0	0	0	15241	768	27	1	3550	1	STAG1	3	136287655	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1406699	136287655	61734775	383	139689											
ESYT3	83850	broad.mit.edu	37	chr3	138170891	138170891	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggcttctttcctagaTccacttcccggacgtggagc	11	14	1	1	rs149154169		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:138170891T>G	uc003esk.2	+	2	555	c.329T>G	c.(328-330)ATC>AGC	p.I110S	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	110						integral to membrane|plasma membrane					0						CTTTCCTAGATCCACTTCCCG	0.672													G	138170891	T	G	138170891	3	3	274	1	0	0	0	0	1	0	0	0	5266	1449	50	5	335	5	ESYT3	3	138170891	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1883236	138170891	59851539	384	139690											
PIK3CB	5291	broad.mit.edu	37	chr3	138431111	138431111	+	Frame_Shift_Del	DEL	A	A	-													ctcaattgtcctttaaagtcAaaaaccatcgtatttaccca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:138431111delA	uc011bmq.1	-	8	1338	c.1338delT	c.(1336-1338)TTTfs	p.F446fs	PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_Frame_Shift_Del_p.F50fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	446	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			breast(2)|ovary(1)|lung(1)|skin(1)	5						CTTTAAAGTCAAAAACCATCG	0.338													-	138431111	A	-	138431111	7	5	274	1	0	1	0	1	0	0	0	0	11914	127	5	0	1932	0	PIK3CB	3	138431111	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	260220	138431111	59591319	385	139691											
RASA2	5922	broad.mit.edu	37	chr3	141326548	141326548	+	Frame_Shift_Del	DEL	A	A	-													gcaatctacacaatcccagtAaaaaacattcttgctgtgga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:141326547_141326547TA>T	uc010huq.1	+	20	1973	c.1973_1973TA>T	c.(1972-1974)gtafs	p.V658fs	RASA2_uc003etz.1_Frame_Shift_Del_p.V654fs|RASA2_uc003eua.1_Frame_Shift_Del_p.V655fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	654	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	Ras GTPase activator activity|metal ion binding			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						ACAATCCCAGTAAAAAACATT	0.274													-	141326548	A	-	141326548	7	5	274	1	0	1	0	1	0	0	0	0	13061	349	13	0	2040	0	RASA2	3	141326548	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	2895437	141326548	56695882	386	139692											
SR140	23350	broad.mit.edu	37	chr3	142741774	142741774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatccaatatacattccGccttctatgatggaacatac	4	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:142741774G>A	uc003evh.1	+	12	1197	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Silent_p.P366P|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Silent_p.P365P|SR140_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	366	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						TATACATTCCGCCTTCTATGA	0.423													A	142741774	G	A	142741774	2	1	274	1	0	0	0	0	0	0	0	1	15130	1074	38	1		1	SR140	3	142741774	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1415226	142741774	55280656	387	139693											
IGSF10	285313	broad.mit.edu	37	chr3	151165718	151165718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagatgagcaataggattgGactcatcaagtccagatccc	9	9	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:151165718G>A	uc011bod.1	-	4	2051	c.2051C>T	c.(2050-2052)TCC>TTC	p.S684F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	684					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATAGGATTGGACTCATCAAG	0.463													A	151165718	G	A	151165718	3	1	274	1	0	0	0	0	1	0	0	0	7597	1174	41	4	5880	4	IGSF10	3	151165718	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8423944	151165718	46856712	388	139694											
DHX36	170506	broad.mit.edu	37	chr3	154010429	154010429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctgagtatcaaaatgCgtctcttttatttttcctcc	5	9	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:154010429C>T	uc003ezy.3	-	15	1806	c.1725G>A	c.(1723-1725)ACG>ACA	p.T575T	DHX36_uc010hvq.2_Silent_p.T561T|DHX36_uc003ezz.3_Silent_p.T575T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	575	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TATCAAAATGCGTCTCTTTTA	0.343													T	154010429	C	T	154010429	2	4	274	1	0	0	0	0	0	0	0	1	4509	755	27	1		1	DHX36	3	154010429	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2844711	154010429	44012001	389	139695											
PLCH1	23007	broad.mit.edu	37	chr3	155198938	155198938	+	Frame_Shift_Del	DEL	T	T	-													tcttcaggtagcctgcgatgTaggagccggtggagtggcga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:155198937_155198937GT>G	uc021xge.1	-	22	5179	c.4902_4902AC>C	c.(4900-4902)tacfs	p.Y1634fs	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Frame_Shift_Del_p.Y1596fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1634					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)			AGCCTGCGATGTAGGAGCCGG	0.587													-	155198938	T	-	155198938	7	5	274	1	0	1	0	1	0	0	0	0	12037	1638	57	0	184	0	PLCH1	3	155198938	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	1188509	155198938	42823492	390	139696											
SI	6476	broad.mit.edu	37	chr3	164793707	164793707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaggtgtcttagttgCtaaaacaacaattaaggcaa	8	7	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:164793707C>T	uc003fei.2	-	2	156	c.94G>A	c.(94-96)GCA>ACA	p.A32T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	32	Helical; Signal-anchor for type II membrane protein; (Potential).				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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTAGTTGCTAAAACAACA	0.333										HNSCC(35;0.089)			T	164793707	C	T	164793707	3	4	274	1	0	0	0	0	1	0	0	0	14297	797	28	2	5577	2	SI	3	164793707	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	9594769	164793707	33228723	391	139697											
BCHE	590	broad.mit.edu	37	chr3	165547369	165547369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaatttcctcggcttttgTgtaattatctcttctttcca	4	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:165547369T>C	uc003fem.3	-	2	1613	c.1453A>G	c.(1453-1455)ACA>GCA	p.T485A	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	485					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			ovary(3)|pancreas(1)	4					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)	TCGGCTTTTGTGTAATTATCT	0.413													C	165547369	T	C	165547369	3	2	274	1	0	0	0	0	1	0	0	0	1358	1696	59	3	367	3	BCHE	3	165547369	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	753662	165547369	32475061	392	139698											
WDR49	151790	broad.mit.edu	37	chr3	167196720	167196720	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcataattgcttggcTtttcgttcatgatgcagaat	9	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:167196720T>C	uc003fev.1	-	15	2346	c.2040A>G	c.(2038-2040)AAA>AAG	p.K680K	WDR49_uc003feu.1_Silent_p.K505K|WDR49_uc011bpd.1_Silent_p.K645K|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	680										large_intestine(1)|ovary(1)|skin(1)	3						ATTGCTTGGCTTTTCGTTCAT	0.313													C	167196720	T	C	167196720	2	2	274	1	0	0	0	0	0	0	0	1	17299	1606	56	3		3	WDR49	3	167196720	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1649351	167196720	30825710	393	139699											
GOLIM4	27333	broad.mit.edu	37	chr3	167759195	167759195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccttgacatcttgaagCtgtgtatgtatgtcttggtg	10	6	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:167759195C>T	uc003ffe.2	-	6	929	c.585G>A	c.(583-585)CAG>CAA	p.Q195Q	GOLIM4_uc011bpe.1_Silent_p.Q195Q|GOLIM4_uc011bpf.1_Silent_p.Q195Q|GOLIM4_uc011bpg.1_Silent_p.Q195Q	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	195	Potential.|Golgi targeting.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CATCTTGAAGCTGTGTATGTA	0.343													T	167759195	C	T	167759195	2	4	274	1	0	0	0	0	0	0	0	1	6566	796	28	2		2	GOLIM4	3	167759195	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	562475	167759195	30263235	394	139700											
MECOM	2122	broad.mit.edu	37	chr3	169099149	169099149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcatcagggatgtagatGggggctttgtaaggagaacc	14	5	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:169099149G>A	uc011bpj.1	-	2	604	c.201C>T	c.(199-201)CCC>CCT	p.P67P	MECOM_uc003ffl.2_Silent_p.P39P|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.P67P|MECOM_uc011bpl.1_Silent_p.P67P	NM_004991	NP_004982	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform c	Error:Variant_position_missing_in_Q03112_after_alignment					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						GGATGTAGATGGGGGCTTTGT	0.498													A	169099149	G	A	169099149	2	1	274	1	0	0	0	0	0	0	0	1	9422	1335	47	4		4	MECOM	3	169099149	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1339954	169099149	28923281	395	139701											
NLGN1	22871	broad.mit.edu	37	chr3	173322476	173322476	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggattgggtgccccattgActctctgtatgttgggatgt	15	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:173322476A>G	uc003fio.1	+	3	511	c.88A>G	c.(88-90)ACT>GCT	p.T30A	NLGN1_uc010hww.1_Missense_Mutation_p.T30A|NLGN1_uc003fip.1_Missense_Mutation_p.T30A	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	30					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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGCCCCATTGACTCTCTGTAT	0.502													G	173322476	A	G	173322476	3	3	274	1	0	0	0	0	1	0	0	0	10461	275	10	3	90	3	NLGN1	3	173322476	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4223327	173322476	24699954	396	139702											
NAALADL2	254827	broad.mit.edu	37	chr3	175520895	175520895	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgagacccttcaagaAgccctgtcagaggtgttgaa	10	9	3	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:175520895A>C	uc003fit.2	+	14	2379	c.2292A>C	c.(2290-2292)GAA>GAC	p.E764D		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	764	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	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)		CCCTTCAAGAAGCCCTGTCAG	0.433													C	175520895	A	C	175520895	3	2	274	1	0	0	0	0	1	0	0	0	10130	69	3	5	2346	5	NAALADL2	3	175520895	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2198419	175520895	22501535	397	139703											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	274	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3415196	178936091	19086339	398	139704											
TTC14	151613	broad.mit.edu	37	chr3	180320724	180320725	+	Frame_Shift_Ins	INS	-	-	A													agatacagaaattcatctccINSaaaaaagcggatctgctttt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:180320724_180320725insA	uc003fkk.2	+	2	339_340	c.207_208insA	c.(205-210)TCCAAAfs	p.S69fs	TTC14_uc003fkl.2_Frame_Shift_Ins_p.S69fs|TTC14_uc003fkm.2_Frame_Shift_Ins_p.S69fs	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	69_70							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AATTCATCTCCAAAAAAGCGGA	0.342													A	180320725	-	A	180320724	7	5	274	1	0	1	1	0	0	0	0	0	16678	581	21	0	213	0	TTC14	3	180320724	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1384633	180320724	17701706	399	139705	749	2									
TTC14	151613	broad.mit.edu	37	chr3	180320725	180320726	+	Frame_Shift_Ins	INS	-	-	A													gatacagaaattcatctccaINSaaaaagcggatctgcttttt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:180320724_180320725C>CA	uc003fkk.3	+	1	339_340	c.207_208C>CA	c.(205-210)tccaaafs	p.S69fs	TTC14_uc003fkl.3_Frame_Shift_Ins_p.S69fs|TTC14_uc003fkm.2_Frame_Shift_Ins_p.S69fs	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	69							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)			AATTCATCTCCAAAAAAGCGGA	0.342													A	180320726	-	A	180320725	7	5	274	1	0	1	1	0	0	0	0	0	16678	131	5	0	214	0	TTC14	3	180320725	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1	180320725	17701705	400	139706	749	2									
B3GNT5	84002	broad.mit.edu	37	chr3	182987793	182987793	+	Frame_Shift_Del	DEL	G	G	-													tctcttaagcacacctcagcGgggcctcgctaccaatactt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:182987793delG	uc003flk.2	+	2	737	c.207delG	c.(205-207)GCGfs	p.A69fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Frame_Shift_Del_p.A69fs|B3GNT5_uc003flm.2_Frame_Shift_Del_p.A69fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	69	Lumenal (Potential).				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			ovary(1)	1	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)			ACACCTCAGCGGGGCCTCGCT	0.398													-	182987793	G	-	182987793	7	5	274	1	0	1	0	1	0	0	0	0	1260	1103	39	0	209	0	B3GNT5	3	182987793	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	2667068	182987793	15034637	401	139707											
DVL3	1857	broad.mit.edu	37	chr3	183885375	183885375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacccccaggcctagaCgacttccacttgtccatcca	5	20	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:183885375C>T	uc003fms.2	+	12	1346	c.1206C>T	c.(1204-1206)GAC>GAT	p.D402D	DVL3_uc011bqw.1_Silent_p.D385D|DVL3_uc003fmt.2_Silent_p.D73D|DVL3_uc003fmu.2_Silent_p.D234D	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	402					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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGGCCTAGACGACTTCCACT	0.333													T	183885375	C	T	183885375	2	4	274	1	0	0	0	0	0	0	0	1	4837	535	19	1		1	DVL3	3	183885375	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	897582	183885375	14137055	402	139708											
EIF4G1	1981	broad.mit.edu	37	chr3	184039599	184039599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcaacggagccccctcGccaccagctgtggacttaag	10	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:184039599G>A	uc003fnp.2	+	10	1425	c.1227G>A	c.(1225-1227)TCG>TCA	p.S409S	EIF4G1_uc003fno.1_Silent_p.S350S|EIF4G1_uc010hxw.1_Silent_p.S245S|EIF4G1_uc003fnt.2_Silent_p.S120S|EIF4G1_uc003fnq.2_Silent_p.S322S|EIF4G1_uc003fnr.2_Silent_p.S245S|EIF4G1_uc010hxx.2_Silent_p.S416S|EIF4G1_uc003fns.2_Silent_p.S369S|EIF4G1_uc010hxy.2_Silent_p.S416S|EIF4G1_uc003fnv.3_Silent_p.S409S|EIF4G1_uc003fnu.3_Silent_p.S409S|EIF4G1_uc003fnw.2_Silent_p.S416S|EIF4G1_uc003fnx.2_Silent_p.S213S|EIF4G1_uc003fny.3_Silent_p.S213S	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	409					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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCCCCCTCGCCACCAGCTG	0.632													A	184039599	G	A	184039599	2	1	274	1	0	0	0	0	0	0	0	1	5036	1074	38	1		1	EIF4G1	3	184039599	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	154224	184039599	13982831	403	139709											
IGF2BP2	10644	broad.mit.edu	37	chr3	185404892	185404892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatttcaagaatcatgcgGcatgcttcagaagtcccctc	8	11	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:185404892G>A	uc003fpo.2	-	7	844	c.765C>T	c.(763-765)TGC>TGT	p.C255C	IGF2BP2_uc010hyi.2_Silent_p.C198C|IGF2BP2_uc010hyj.2_Silent_p.C192C|IGF2BP2_uc010hyk.2_Silent_p.C119C|IGF2BP2_uc010hyl.2_Silent_p.C192C|IGF2BP2_uc003fpp.2_Silent_p.C255C|IGF2BP2_uc003fpq.2_Silent_p.C260C	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	255	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAATCATGCGGCATGCTTCAG	0.458													A	185404892	G	A	185404892	2	1	274	1	0	0	0	0	0	0	0	1	7574	1195	42	2		2	IGF2BP2	3	185404892	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1365293	185404892	12617538	404	139710											
TP63	8626	broad.mit.edu	37	chr3	189456514	189456514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaaacaagattgagattaGcatggactgtatccgcatgc	10	8	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:189456514G>T	uc003fry.2	+	3	364	c.275G>T	c.(274-276)AGC>ATC	p.S92I	TP63_uc003frx.2_Missense_Mutation_p.S92I|TP63_uc003frz.2_Missense_Mutation_p.S92I|TP63_uc010hzc.1_Missense_Mutation_p.S92I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	92	Transcription activation.				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			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATTGAGATTAGCATGGACTGT	0.473									Hay-Wells_syndrome	HNSCC(45;0.13)			T	189456514	G	T	189456514	3	4	274	1	0	0	0	0	1	0	0	0	16389	971	34	5	285	5	TP63	3	189456514	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4051622	189456514	8565916	405	139711											
ATP13A4	84239	broad.mit.edu	37	chr3	193130155	193130155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttcattttgtactgtgCaggcactaaaagggaaaacc	9	8	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:193130155C>T	uc003ftd.2	-	27	3128	c.3020G>A	c.(3019-3021)TGC>TAC	p.C1007Y	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1007	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	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)		TTGTACTGTGCAGGCACTAAA	0.393													T	193130155	C	T	193130155	3	4	274	1	0	0	0	0	1	0	0	0	1126	710	25	2	586	2	ATP13A4	3	193130155	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3673641	193130155	4892275	406	139712											
MFI2	4241	broad.mit.edu	37	chr3	196736677	196736677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtacgagttgctgctgTcttccgctggggagagaggg	17	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:196736677T>C	uc003fxk.3	-	11	1450	c.1337A>G	c.(1336-1338)GAC>GGC	p.D446G		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	446	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		GTTGCTGCTGTCTTCCGCTGG	0.647													C	196736677	T	C	196736677	3	2	274	1	0	0	0	0	1	0	0	0	9522	1667	58	3	903	3	MFI2	3	196736677	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3606522	196736677	1285753	407	139713											
MFI2	4241	broad.mit.edu	37	chr3	196743103	196743103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggcgtgcaggtactcAtggcccagccacgcctcata	10	14	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr3:196743103A>G	uc003fxk.3	-	8	1151	c.1038T>C	c.(1036-1038)CAT>CAC	p.H346H		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	346	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	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)		GCAGGTACTCATGGCCCAGCC	0.597													G	196743103	A	G	196743103	2	3	274	1	0	0	0	0	0	0	0	1	9522	214	8	3		3	MFI2	3	196743103	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6426	196743103	1279327	408	139714											
HAUS3	79441	broad.mit.edu	37	chr4	2242355	2242355	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttaatttcagtagagtttGaacctcatcctctaatttct	4	9	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:2242355G>A	uc003ges.1	-	2	549	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Nonsense_Mutation_p.Q107*|HAUS3_uc003get.1_Nonsense_Mutation_p.Q107*	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	107	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						AGTAGAGTTTGAACCTCATCC	0.378													A	2242355	G	A	2242355	4	1	274	1	0	0	0	0	0	1	0	0	6967	1299	45	4	1508	4	HAUS3	4	2242355	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		2242355	188911921	409	139715											
ZBTB49	166793	broad.mit.edu	37	chr4	4322608	4322608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctttctcccaagacacGtctgtgacgctgatgccagt	9	13	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:4322608G>A	uc003ghu.2	+	8	2038	c.1863G>A	c.(1861-1863)ACG>ACA	p.T621T	uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Silent_p.T104T|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Silent_p.T199T	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CCCAAGACACGTCTGTGACGC	0.537													A	4322608	G	A	4322608	2	1	274	1	0	0	0	0	0	0	0	1	17547	1132	40	1		1	ZBTB49	4	4322608	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2080253	4322608	186831668	410	139716											
STX18	53407	broad.mit.edu	37	chr4	4440158	4440158	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggttttcttcagagtcTtttgaaggactctgtgaaac	11	7	4	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:4440158T>C	uc003gic.2	-	6	660	c.576A>G	c.(574-576)AAA>AAG	p.K192K		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	192	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTTCAGAGTCTTTTGAAGGAC	0.393													C	4440158	T	C	4440158	2	2	274	1	0	0	0	0	0	0	0	1	15340	1606	56	3		3	STX18	4	4440158	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	117550	4440158	186714118	411	139717											
EVC	2121	broad.mit.edu	37	chr4	5798849	5798849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaccctgacgcagatgCggctatcggggaagaagcac	14	12	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:5798849C>T	uc003gil.1	+	14	2171	c.1987C>T	c.(1987-1989)CGG>TGG	p.R663W	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	663					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GACGCAGATGCGGCTATCGGG	0.677													T	5798849	C	T	5798849	3	4	274	1	0	0	0	0	1	0	0	0	5285	759	27	1	2041	1	EVC	4	5798849	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1358691	5798849	185355427	412	139718											
KIAA0232	9778	broad.mit.edu	37	chr4	6864082	6864082	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaagtgcaatgcagtaattCtgttttaccattttcttttg	7	6	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:6864082C>A	uc003gjr.3	+	7	2436	c.1973C>A	c.(1972-1974)TCT>TAT	p.S658Y	KIAA0232_uc003gjq.3_Missense_Mutation_p.S658Y	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	658							ATP binding			ovary(2)	2						TGCAGTAATTCTGTTTTACCA	0.353													A	6864082	C	A	6864082	3	1	274	1	0	0	0	0	1	0	0	0	8163	913	32	5	1991	5	KIAA0232	4	6864082	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1065233	6864082	184290194	413	139719											
KIAA0232	9778	broad.mit.edu	37	chr4	6864571	6864571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacatggagatggctacaGctcaggggttattaaagaca	11	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:6864571G>A	uc003gjr.3	+	7	2925	c.2462G>A	c.(2461-2463)AGC>AAC	p.S821N	KIAA0232_uc003gjq.3_Missense_Mutation_p.S821N	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	821							ATP binding			ovary(2)	2						GATGGCTACAGCTCAGGGGTT	0.378													A	6864571	G	A	6864571	3	1	274	1	0	0	0	0	1	0	0	0	8163	971	34	2	2480	2	KIAA0232	4	6864571	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	489	6864571	184289705	414	139720											
AFAP1	60312	broad.mit.edu	37	chr4	7820825	7820825	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccagttctgccttgtgcAccggggagcttggtggagga	15	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:7820825A>G	uc003gkg.1	-	7	1073	c.800T>C	c.(799-801)GTG>GCG	p.V267A	AFAP1_uc011bwk.1_Missense_Mutation_p.V267A	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	267						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TGCCTTGTGCACCGGGGAGCT	0.522													G	7820825	A	G	7820825	3	3	274	1	0	0	0	0	1	0	0	0	353	159	6	3	1692	3	AFAP1	4	7820825	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	956254	7820825	183333451	415	139721											
SH3TC1	54436	broad.mit.edu	37	chr4	8242611	8242611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccacagagctcaacgtcCgcagggtcaacctgcctcct	9	17	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:8242611C>T	uc003gkv.3	+	18	4041	c.3940C>T	c.(3940-3942)CGC>TGC	p.R1314C	SH3TC1_uc003gkw.3_Missense_Mutation_p.R1238C|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1314							binding			large_intestine(2)|pancreas(1)	3						GCTCAACGTCCGCAGGGTCAA	0.632													T	8242611	C	T	8242611	3	4	274	1	0	0	0	0	1	0	0	0	14261	652	23	1	4006	1	SH3TC1	4	8242611	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	421786	8242611	182911665	416	139722											
DRD5	1816	broad.mit.edu	37	chr4	9783755	9783755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctcggcgggggcaccGccactggggccctcacaggt	19	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:9783755G>A	uc003gmb.3	+	1	498	c.102G>A	c.(100-102)CCG>CCA	p.P34P		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	34	Extracellular (Potential).				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				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGGGGGCACCGCCACTGGGGC	0.701													A	9783755	G	A	9783755	2	1	274	1	0	0	0	0	0	0	0	1	4760	1074	38	1		1	DRD5	4	9783755	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1541144	9783755	181370521	417	139723											
BOD1L	259282	broad.mit.edu	37	chr4	13584277	13584277	+	Frame_Shift_Del	DEL	T	T	-													aagcagatattttactcaccTttttcttccatgacccttga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:13584277delT	uc003gmz.1	-	18	8634	c.8517delA	c.(8515-8517)AAAfs	p.K2839fs		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2839							DNA binding			ovary(5)|breast(1)	6						TTTACTCACCTTTTTCTTCCA	0.403													-	13584277	T	-	13584277	7	5	274	1	0	1	0	1	0	0	0	0	1483	1623	56	0	674	0	BOD1L	4	13584277	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	3800522	13584277	177569999	418	139724											
CC2D2A	57545	broad.mit.edu	37	chr4	15601259	15601260	+	Frame_Shift_Ins	INS	-	-	A													cacttcttgcctctgttagaINSaaaaagtcaaggagaagatg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:15601258_15601259G>GA	uc010idv.2	+	36	4848_4849	c.4603_4604G>GA	c.(4603-4605)gaafs	p.E1535fs	CC2D2A_uc003gnx.3_Frame_Shift_Ins_p.E1427fs|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	1535					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						GCCTCTGTTAGAAAAAAGTCAA	0.426													A	15601260	-	A	15601259	7	5	274	1	0	1	1	0	0	0	0	0	2728	246	9	0	4945	0	CC2D2A	4	15601259	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	2016982	15601259	175553017	419	139725											
BST1	683	broad.mit.edu	37	chr4	15717330	15717330	+	Frame_Shift_Del	DEL	T	T	-													cttcaagaaatgtttctcagTttttttgcagattatgaaat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:15717330delT	uc003goh.3	+	6	807	c.612delT	c.(610-612)GGTfs	p.G204fs	BST1_uc003goi.2_Frame_Shift_Del_p.G15fs	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	204					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						TGTTTCTCAGTTTTTTTGCAG	0.318													-	15717330	T	-	15717330	7	5	274	1	0	1	0	1	0	0	0	0	1533	1739	60	0	634	0	BST1	4	15717330	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	116071	15717330	175436946	420	139726											
NCAPG	64151	broad.mit.edu	37	chr4	17819570	17819570	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaatgaaggaaattgaTtccagtggaaacattaactc	7	5	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:17819570T>G	uc003gpp.2	+	7	1153	c.977T>G	c.(976-978)ATT>AGT	p.I326S	NCAPG_uc011bxj.1_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	326					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		AGGAAATTGATTCCAGTGGAA	0.308													G	17819570	T	G	17819570	3	3	274	1	0	0	0	0	1	0	0	0	10207	1493	52	5	1003	5	NCAPG	4	17819570	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2102240	17819570	173334706	421	139727											
RBPJ	3516	broad.mit.edu	37	chr4	26431568	26431568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagatgataaatgatggcGcttcctggacaatcattagc	10	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:26431568G>A	uc003grx.1	+	10	1212	c.976G>A	c.(976-978)GCT>ACT	p.A326T	RBPJ_uc003gry.1_Missense_Mutation_p.A311T|RBPJ_uc003grz.1_Missense_Mutation_p.A326T|RBPJ_uc011bxt.1_Missense_Mutation_p.A326T|RBPJ_uc003gsa.1_Missense_Mutation_p.A312T|RBPJ_uc003gsb.1_Missense_Mutation_p.A313T|RBPJ_uc003gsc.1_Missense_Mutation_p.A312T	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	326					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			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				AAATGATGGCGCTTCCTGGAC	0.403													A	26431568	G	A	26431568	3	1	274	1	0	0	0	0	1	0	0	0	13161	1087	38	1	1073	1	RBPJ	4	26431568	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8611998	26431568	164722708	422	139728											
RBM47	54502	broad.mit.edu	37	chr4	40440760	40440760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgtacttgcgctgccCgttctcttgcaccatgctgt	10	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:40440760C>A	uc003gvc.2	-	4	861	c.151G>T	c.(151-153)GGG>TGG	p.G51W	RBM47_uc003gvd.2_Missense_Mutation_p.G51W|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.G13W|RBM47_uc003gvg.1_Missense_Mutation_p.G51W	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	51						nucleus	nucleotide binding|RNA binding			breast(3)	3						TTGCGCTGCCCGTTCTCTTGC	0.721													A	40440760	C	A	40440760	3	1	274	1	0	0	0	0	1	0	0	0	13141	652	23	5	1646	5	RBM47	4	40440760	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	14009192	40440760	150713516	423	139729											
PHOX2B	8929	broad.mit.edu	37	chr4	41748270	41748270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgaggagccgttcttggCcgcggccgctgcggctgccg	17	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:41748270C>T	uc003gwf.3	-	3	859	c.499G>A	c.(499-501)GCC>ACC	p.A167T		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	167	Poly-Ala.				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)|lung(2)|ovary(2)|central_nervous_system(1)	12						CCGTTCTTGGCCGCGGCCGCT	0.657			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	41748270	C	T	41748270	3	4	274	1	0	0	0	0	1	0	0	0	11859	739	26	2	449	2	PHOX2B	4	41748270	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1307510	41748270	149406006	424	139730											
CNGA1	1259	broad.mit.edu	37	chr4	47938810	47938810	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtctgagtagccaatActtttaatattggccgttct	8	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:47938810A>G	uc003gxt.3	-	11	1967	c.1701T>C	c.(1699-1701)AGT>AGC	p.S567S	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.S636S	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	567	cGMP (Potential).|Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						AGTAGCCAATACTTTTAATAT	0.443													G	47938810	A	G	47938810	2	3	274	1	0	0	0	0	0	0	0	1	3596	388	14	3		3	CNGA1	4	47938810	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6190540	47938810	143215466	425	139731											
SGCB	6443	broad.mit.edu	37	chr4	52895882	52895882	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccaaattttcatttcGccttcctcctactgtgcttt	5	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:52895882G>A	uc003gzj.2	-	3	451	c.391C>T	c.(391-393)CGA>TGA	p.R131*	SGCB_uc011bzp.1_Nonsense_Mutation_p.R61*	NM_000232	NP_000223	Q16585	SGCB_HUMAN	sarcoglycan, beta	131	Extracellular (Potential).|Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma					0			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTTTCATTTCGCCTTCCTCCT	0.413													A	52895882	G	A	52895882	4	1	274	1	0	0	0	0	0	1	0	0	14200	1095	38	1	581	1	SGCB	4	52895882	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4957072	52895882	138258394	426	139732											
GSX2	170825	broad.mit.edu	37	chr4	54966568	54966568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggacacctcacggcctgcGccctcgctgcctgaaccgca	10	18	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:54966568G>A	uc010igp.1	+	1	321	c.57G>A	c.(55-57)GCG>GCA	p.A19A	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	19						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	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)			CACGGCCTGCGCCCTCGCTGC	0.677													A	54966568	G	A	54966568	2	1	274	1	0	0	0	0	0	0	0	1	6850	1074	38	1		1	GSX2	4	54966568	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2070686	54966568	136187708	427	139733											
PDGFRA	5156	broad.mit.edu	37	chr4	55146554	55146554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatactacacagtatgTccccatgctagaaaggaaag	10	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:55146554T>C	uc003han.3	+	16	2559	c.2228T>C	c.(2227-2229)GTC>GCC	p.V743A	PDGFRA_uc003haa.2_Missense_Mutation_p.V503A|PDGFRA_uc010igq.1_Missense_Mutation_p.V637A|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.V122A	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	743	Protein kinase.|Cytoplasmic (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	ACACAGTATGTCCCCATGCTA	0.368			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			C	55146554	T	C	55146554	3	2	274	1	0	0	0	0	1	0	0	0	11661	1667	58	3	2286	3	PDGFRA	4	55146554	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	179986	55146554	136007722	428	139734											
KIT	3815	broad.mit.edu	37	chr4	55602973	55602973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctcagccctgaacacGcacctgctgaaatgtaagag	11	11	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:55602973G>A	uc010igr.2	+	19	2770	c.2683G>A	c.(2683-2685)GCA>ACA	p.A895T	KIT_uc010igs.2_Missense_Mutation_p.A891T	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	895	Protein kinase.|Cytoplasmic (Potential).		Missing (in PBT; severe).		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			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	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)	CCCTGAACACGCACCTGCTGA	0.438		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				A	55602973	G	A	55602973	3	1	274	1	0	0	0	0	1	0	0	0	8329	1087	38	1	2757	1	KIT	4	55602973	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	456419	55602973	135551303	429	139735											
EXOC1	55763	broad.mit.edu	37	chr4	56763012	56763012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcaaaaatgctgagcgtCgtggagacctggataaagca	11	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:56763012C>T	uc003hbe.1	+	16	2241	c.2083C>T	c.(2083-2085)CGT>TGT	p.R695C	EXOC1_uc003hbf.1_Missense_Mutation_p.R695C|EXOC1_uc003hbg.1_Missense_Mutation_p.R680C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	695					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAGCGTCGTGGAGACCT	0.333													T	56763012	C	T	56763012	3	4	274	1	0	0	0	0	1	0	0	0	5301	884	31	1	2141	1	EXOC1	4	56763012	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1160039	56763012	134391264	430	139736											
UBA6	55236	broad.mit.edu	37	chr4	68490787	68490787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgctttgttttgaaacgGtcagctggttcaatgctgta	11	7	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:68490787G>A	uc003hdg.3	-	29	2689	c.2637C>T	c.(2635-2637)GAC>GAT	p.D879D		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	879					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						TTTTGAAACGGTCAGCTGGTT	0.368													A	68490787	G	A	68490787	2	1	274	1	0	0	0	0	0	0	0	1	16829	1252	44	4		4	UBA6	4	68490787	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	11727775	68490787	122663489	431	139737											
AMBN	258	broad.mit.edu	37	chr4	71472000	71472000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaacccagctatgggCggtgacttcactctggaatt	9	14	2	1	rs76096306	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:71472000C>T	uc003hfl.2	+	13	972	c.897C>T	c.(895-897)GGC>GGT	p.G299G		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	299					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			CAGCTATGGGCGGTGACTTCA	0.592													T	71472000	C	T	71472000	2	4	274	1	0	0	0	0	0	0	0	1	563	755	27	1		1	AMBN	4	71472000	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2981213	71472000	119682276	432	139738											
ADAMTS3	9508	broad.mit.edu	37	chr4	73161432	73161432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttcggctttttgttggCctcacagaagctgcgatgga	13	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:73161432C>T	uc003hgk.1	-	19	2699	c.2662G>A	c.(2662-2664)GCC>ACC	p.A888T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	888	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			TTTTTGTTGGCCTCACAGAAG	0.373													T	73161432	C	T	73161432	3	4	274	1	0	0	0	0	1	0	0	0	267	739	26	2	971	2	ADAMTS3	4	73161432	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1689432	73161432	117992844	433	139739											
ADAMTS3	9508	broad.mit.edu	37	chr4	73179443	73179443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaacaccagttccacatgTccgagaacaggagccaaatt	8	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:73179443T>C	uc003hgk.1	-	12	1733	c.1696A>G	c.(1696-1698)ACA>GCA	p.T566A	ADAMTS3_uc003hgl.2_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	566	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			GTTCCACATGTCCGAGAACAG	0.418													C	73179443	T	C	73179443	3	2	274	1	0	0	0	0	1	0	0	0	267	1667	58	3	1965	3	ADAMTS3	4	73179443	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	18011	73179443	117974833	434	139740											
RASSF6	166824	broad.mit.edu	37	chr4	74451071	74451071	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggtgttgctgtgataAgataaatagtctgggaagaa	13	3	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:74451071A>C	uc003hhd.1	-	6	612	c.489T>G	c.(487-489)TCT>TCG	p.S163S	RASSF6_uc003hhc.1_Silent_p.S131S|RASSF6_uc010iik.1_Silent_p.S131S|RASSF6_uc010iil.1_Silent_p.S119S	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	163					apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGTGATAAGATAAATAGT	0.423													C	74451071	A	C	74451071	2	2	274	1	0	0	0	0	0	0	0	1	13090	59	3	5		5	RASSF6	4	74451071	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1271628	74451071	116703205	435	139741											
MTHFD2L	441024	broad.mit.edu	37	chr4	75091091	75091091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcatacgcagctggcagAtattatcatagttgctgcag	10	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:75091091A>G	uc011cbk.1	+	6	812	c.785A>G	c.(784-786)GAT>GGT	p.D262G	MTHFD2L_uc011cbj.1_Missense_Mutation_p.D204G|MTHFD2L_uc003hhu.2_RNA	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	204					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			CAGCTGGCAGATATTATCATA	0.408													G	75091091	A	G	75091091	3	3	274	1	0	0	0	0	1	0	0	0	9930	333	12	3	807	3	MTHFD2L	4	75091091	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	640020	75091091	116063185	436	139742											
BMP3	651	broad.mit.edu	37	chr4	81967654	81967654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccctgaaaaaggcaaGgagaaagcagtggattgaac	13	7	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:81967654G>T	uc003hmg.3	+	2	1399	c.1079G>T	c.(1078-1080)AGG>ATG	p.R360M		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	360					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						AAAAAGGCAAGGAGAAAGCAG	0.483													T	81967654	G	T	81967654	3	4	274	1	0	0	0	0	1	0	0	0	1461	1000	35	5	1085	5	BMP3	4	81967654	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6876563	81967654	109186622	437	139743											
PRKG2	5593	broad.mit.edu	37	chr4	82125916	82125916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactttatctggagaggCctgaagcgggcttcctccct	12	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:82125916C>T	uc003hmh.2	-	1	300	c.286G>A	c.(286-288)GCC>ACC	p.A96T	PRKG2_uc011cch.1_Missense_Mutation_p.A96T	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	96					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TCTGGAGAGGCCTGAAGCGGG	0.567													T	82125916	C	T	82125916	3	4	274	1	0	0	0	0	1	0	0	0	12523	739	26	2	2074	2	PRKG2	4	82125916	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	158262	82125916	109028360	438	139744											
WDFY3	23001	broad.mit.edu	37	chr4	85741342	85741342	+	Splice_Site	DEL	A	A	-													tattatttcttgagtcccctAaaaaaaggttcaaaggtcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:85741341_85741341TA>T	uc003hpd.3	-	12	2000	c.1592_splice	c.e12-1	p.G531_splice	WDFY3_uc003hpf.3_Splice_Site_p.G531_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	531						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)		TTGAGTCCCCTAAAAAAAGGT	0.323													-	85741342	A	-	85741342	8	5	274	1	0	1	0	1	0	0	1	0	17267	377	13	0		0	WDFY3	4	85741342	Splice_Site	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	3615426	85741342	105412934	439	139745											
PKD2	5311	broad.mit.edu	37	chr4	88989190	88989190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggaagcatttctagtggCgtttcttacgaagagtttca	12	6	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:88989190C>T	uc003hre.2	+	13	2565	c.2499C>T	c.(2497-2499)GGC>GGT	p.G833G	PKD2_uc011cdf.1_Silent_p.G251G|PKD2_uc011cdg.1_Silent_p.G159G|PKD2_uc011cdh.1_Silent_p.G56G	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	833	C-terminal coiled coil domain.|Cytoplasmic (Potential).					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			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTCTAGTGGCGTTTCTTACG	0.478													T	88989190	C	T	88989190	2	4	274	1	0	0	0	0	0	0	0	1	11966	755	27	1		1	PKD2	4	88989190	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3247848	88989190	102165086	440	139746											
MMRN1	22915	broad.mit.edu	37	chr4	90857014	90857014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagaaatggaagatggccTcaataagacaatgactatta	8	6	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:90857014T>C	uc003hst.2	+	6	2254	c.2183T>C	c.(2182-2184)CTC>CCC	p.L728P	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.L470P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	728					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAGATGGCCTCAATAAGACA	0.323													C	90857014	T	C	90857014	3	2	274	1	0	0	0	0	1	0	0	0	9670	1551	54	3	2205	3	MMRN1	4	90857014	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1867824	90857014	100297262	441	139747											
MANBA	4126	broad.mit.edu	37	chr4	103644044	103644044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttccgaacaaagttgAcatggcattcacccttctgc	6	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:103644044A>G	uc003hwg.2	-	4	633	c.533T>C	c.(532-534)GTC>GCC	p.V178A	MANBA_uc011ces.1_Intron	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	178					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AACAAAGTTGACATGGCATTC	0.502													G	103644044	A	G	103644044	3	3	274	1	0	0	0	0	1	0	0	0	9219	275	10	3	2162	3	MANBA	4	103644044	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	12787030	103644044	87510232	442	139748											
CFI	3426	broad.mit.edu	37	chr4	110667481	110667481	+	Frame_Shift_Del	DEL	T	T	-													gaacgaggcagctcacaatcTtttttgtttccgtctttttt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:110667481delT	uc003hzr.3	-	11	1534	c.1326delA	c.(1324-1326)AAAfs	p.K442fs	CFI_uc003hzq.2_Frame_Shift_Del_p.K239fs|CFI_uc011cft.1_Frame_Shift_Del_p.K450fs|CFI_uc003hzs.3_Frame_Shift_Del_p.K435fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	442	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GCTCACAATCTTTTTTGTTTC	0.418													-	110667481	T	-	110667481	7	5	274	1	0	1	0	1	0	0	0	0	3289	1606	56	0	437	0	CFI	4	110667481	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	7023437	110667481	80486795	443	139749											
TIFA	92610	broad.mit.edu	37	chr4	113199100	113199100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccatactccggtatgggcCtgtgtggtggccagttgttt	14	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:113199100C>A	uc003ial.2	-	2	755	c.473G>T	c.(472-474)AGG>ATG	p.R158M		NM_052864	NP_443096	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with a	158							protein binding			breast(1)	1		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CGGTATGGGCCTGTGTGGTGG	0.438													A	113199100	C	A	113199100	3	1	274	1	0	0	0	0	1	0	0	0	15891	681	24	5	85	5	TIFA	4	113199100	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2531619	113199100	77955176	444	139750											
NDST3	9348	broad.mit.edu	37	chr4	119145777	119145777	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctgcctccagtacaactGgcccacaagtattttgagct	7	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:119145777G>T	uc003ibx.2	+	7	2074	c.1671G>T	c.(1669-1671)CTG>CTT	p.L557L	NDST3_uc011cgf.1_Silent_p.L476L	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	557	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CAGTACAACTGGCCCACAAGT	0.408													T	119145777	G	T	119145777	2	4	274	1	0	0	0	0	0	0	0	1	10257	1335	47	5		5	NDST3	4	119145777	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5946677	119145777	72008499	445	139751											
SYNPO2	171024	broad.mit.edu	37	chr4	119810241	119810241	+	Frame_Shift_Del	DEL	G	G	-													catgactggaggggcgccctGggggttcagattgcaaggtg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:119810241delG	uc003icm.3	+	1	246	c.50delG	c.(49-51)TGGfs	p.W17fs	SYNPO2_uc010ina.2_Frame_Shift_Del_p.W17fs|SYNPO2_uc010inb.2_Frame_Shift_Del_p.W17fs|SYNPO2_uc011cgh.1_Frame_Shift_Del_p.W17fs	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	17	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						GGGGCGCCCTGGGGGTTCAGA	0.527													-	119810241	G	-	119810241	7	5	274	1	0	1	0	1	0	0	0	0	15454	1357	47	0	52	0	SYNPO2	4	119810241	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	664464	119810241	71344035	446	139752											
USP53	54532	broad.mit.edu	37	chr4	120161049	120161049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagctgctttcttaatagCgctgtacaggtgagaccata	9	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:120161049C>T	uc003ics.3	+	4	1201	c.135C>T	c.(133-135)AGC>AGT	p.S45S	USP53_uc003icr.3_Silent_p.S45S|USP53_uc003icu.3_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	45					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						TTCTTAATAGCGCTGTACAGG	0.333													T	120161049	C	T	120161049	2	4	274	1	0	0	0	0	0	0	0	1	17081	767	27	1		1	USP53	4	120161049	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	350808	120161049	70993227	447	139753											
MAD2L1	4085	broad.mit.edu	37	chr4	120987858	120987858	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctcccgcgcagggtgAttccctgctcccgggagagc	15	16	0	2	rs11542099		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:120987858A>T	uc003idl.2	-	1	156	c.32T>A	c.(31-33)ATC>AAC	p.I11N	MAD2L1_uc003idm.2_Missense_Mutation_p.I11N	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	MAD2-like 1	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity				0						GCGCAGGGTGATTCCCTGCTC	0.627													T	120987858	A	T	120987858	3	4	274	1	0	0	0	0	1	0	0	0	9148	333	12	5	605	5	MAD2L1	4	120987858	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	826809	120987858	70166418	448	139754											
FAT4	79633	broad.mit.edu	37	chr4	126242670	126242670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaccgggagcaaggaGcatgtctttacctggtggat	14	8	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:126242670G>A	uc003ifj.3	+	1	5104	c.5104G>A	c.(5104-5106)GCA>ACA	p.A1702T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1702	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGAGCAAGGAGCATGTCTTTA	0.413													A	126242670	G	A	126242670	3	1	274	1	0	0	0	0	1	0	0	0	5692	971	34	2	5106	2	FAT4	4	126242670	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5254812	126242670	64911606	449	139755											
FAT4	79633	broad.mit.edu	37	chr4	126412700	126412700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgggcacccaggcagCagcaccaggcactgctgaca	12	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:126412700C>A	uc003ifj.3	+	17	14723	c.14723C>A	c.(14722-14724)GCA>GAA	p.A4908E	FAT4_uc011cgp.1_Missense_Mutation_p.A3149E|FAT4_uc003ifi.1_Missense_Mutation_p.A2385E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4908	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCCAGGCAGCAGCACCAGGC	0.572													A	126412700	C	A	126412700	3	1	274	1	0	0	0	0	1	0	0	0	5692	710	25	5	14789	5	FAT4	4	126412700	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	170030	126412700	64741576	450	139756											
SCLT1	132320	broad.mit.edu	37	chr4	129864248	129864248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgaagttttagccttTgttcactgacaagcccacag	8	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:129864248T>C	uc003igp.2	-	17	2041	c.1535A>G	c.(1534-1536)CAA>CGA	p.Q512R	SCLT1_uc003ign.2_Missense_Mutation_p.Q176R|SCLT1_uc003igo.2_Missense_Mutation_p.Q122R|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	512	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TTTTAGCCTTTGTTCACTGAC	0.388													C	129864248	T	C	129864248	3	2	274	1	0	0	0	0	1	0	0	0	13906	1812	63	3	551	3	SCLT1	4	129864248	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3451548	129864248	61290028	451	139757											
OTUD4	54726	broad.mit.edu	37	chr4	146059018	146059018	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caggcacagtttctctctctCtgtttagaatctgagtggga	10	9	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:146059018C>G	uc003ika.3	-	21	2852	c.2714G>C	c.(2713-2715)AGA>ACA	p.R905T	OTUD4_uc003ijz.3_Missense_Mutation_p.R904T	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	969							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					TTCTCTCTCTCTGTTTAGAAT	0.448													G	146059018	C	G	146059018	3	3	274	1	0	0	0	0	1	0	0	0	11314	913	32	5	439	5	OTUD4	4	146059018	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	16194770	146059018	45095258	452	139758											
NR3C2	4306	broad.mit.edu	37	chr4	149356865	149356865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcacaccatttgagatgGcactctctacttcctcagtc	6	14	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:149356865G>A	uc003ilj.3	-	2	1482	c.1148C>T	c.(1147-1149)GCC>GTC	p.A383V	NR3C2_uc003ilk.3_Missense_Mutation_p.A383V|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	383	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATTTGAGATGGCACTCTCTAC	0.478													A	149356865	G	A	149356865	3	1	274	1	0	0	0	0	1	0	0	0	10631	1203	42	2	1838	2	NR3C2	4	149356865	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3297847	149356865	41797411	453	139759											
MAB21L2	10586	broad.mit.edu	37	chr4	151504618	151504618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggacaagtgcagctatcGggatgtggtcaagatgatcg	16	6	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:151504618G>T	uc003ilw.2	+	1	1542	c.437G>T	c.(436-438)CGG>CTG	p.R146L	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	146					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCAGCTATCGGGATGTGGTC	0.602													T	151504618	G	T	151504618	3	4	274	1	0	0	0	0	1	0	0	0	9142	1116	39	5	439	5	MAB21L2	4	151504618	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2147753	151504618	39649658	454	139760											
MND1	84057	broad.mit.edu	37	chr4	154335996	154335996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaattccagaagactttgActacatagactaaaatattc	6	7	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:154335996A>G	uc003ink.1	+	8	694	c.605A>G	c.(604-606)GAC>GGC	p.D202G		NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	GAJ protein	202					DNA recombination|meiosis	nucleus	DNA binding				0	all_hematologic(180;0.093)					GAAGACTTTGACTACATAGAC	0.289													G	154335996	A	G	154335996	3	3	274	1	0	0	0	0	1	0	0	0	9675	275	10	3	635	3	MND1	4	154335996	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2831378	154335996	36818280	455	139761											
FGA	2243	broad.mit.edu	37	chr4	155505924	155505924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttactggatcccggtagCttgatattgaaaatgccact	8	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:155505924C>A	uc003iod.1	-	6	2011	c.1953G>T	c.(1951-1953)AAG>AAT	p.K651N		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	651	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			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATCCCGGTAGCTTGATATTGA	0.393													A	155505924	C	A	155505924	3	1	274	1	0	0	0	0	1	0	0	0	5830	796	28	5	651	5	FGA	4	155505924	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1169928	155505924	35648352	456	139762											
RBM46	166863	broad.mit.edu	37	chr4	155720283	155720283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcttaatggtcagatTagtccaaattctgaaaatct	6	8	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:155720283T>C	uc003ioo.2	+	4	1142	c.969T>C	c.(967-969)ATT>ATC	p.I323I	RBM46_uc011cim.1_Silent_p.I323I|RBM46_uc003iop.1_Silent_p.I323I	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	323							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				ATGGTCAGATTAGTCCAAATT	0.393													C	155720283	T	C	155720283	2	2	274	1	0	0	0	0	0	0	0	1	13140	1742	61	3		3	RBM46	4	155720283	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	214359	155720283	35433993	457	139763											
GLRB	2743	broad.mit.edu	37	chr4	158057767	158057767	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttattttttgcaaatgaAaaaagtgccaattttcatga	6	4	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:158057767A>C	uc003ipj.2	+	5	646	c.444A>C	c.(442-444)GAA>GAC	p.E148D		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	148	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTGCAAATGAAAAAAGTGCCA	0.393													C	158057767	A	C	158057767	3	2	274	1	0	0	0	0	1	0	0	0	6458	11	1	5	458	5	GLRB	4	158057767	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2337484	158057767	33096509	458	139764											
SH3RF1	57630	broad.mit.edu	37	chr4	170043298	170043298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaatctggtcagtggaTcctgccatgggcctcggtcc	13	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:170043298T>C	uc003isa.1	-	7	1634	c.1299A>G	c.(1297-1299)GGA>GGG	p.G433G	SH3RF1_uc010irc.1_Silent_p.G133G	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	433						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGTCAGTGGATCCTGCCATGG	0.592													C	170043298	T	C	170043298	2	2	274	1	0	0	0	0	0	0	0	1	14258	1422	50	3		3	SH3RF1	4	170043298	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	11985531	170043298	21110978	459	139765											
GLRA3	8001	broad.mit.edu	37	chr4	175598420	175598420	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcgctccagatggaatcGcacttctatacacgtaaact	7	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:175598420G>A	uc003ity.1	-	7	1239	c.736C>T	c.(736-738)CGA>TGA	p.R246*	GLRA3_uc003itz.1_Nonsense_Mutation_p.R246*	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	246	Extracellular (Probable).				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			ovary(3)	3		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)	AGATGGAATCGCACTTCTATA	0.368													A	175598420	G	A	175598420	4	1	274	1	0	0	0	0	0	1	0	0	6456	1095	38	1	674	1	GLRA3	4	175598420	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5555122	175598420	15555856	460	139766											
ODZ3	55714	broad.mit.edu	37	chr4	183675596	183675596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggataactccatttatgTcctggataataatgtagttt	7	5	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:183675596T>C	uc003ivd.1	+	21	4113	c.4076T>C	c.(4075-4077)GTC>GCC	p.V1359A	ODZ3_uc003ive.1_Missense_Mutation_p.V772A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1359	Extracellular (Potential).|NHL 3.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCCATTTATGTCCTGGATAAT	0.438													C	183675596	T	C	183675596	3	2	274	1	0	0	0	0	1	0	0	0	10836	1667	58	3	4158	3	ODZ3	4	183675596	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	8077176	183675596	7478680	461	139767											
ODZ3	55714	broad.mit.edu	37	chr4	183714994	183714994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacatgtttaggaataAcaaccctgcaagcaaaatcc	6	10	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:183714994A>G	uc003ivd.1	+	25	7206	c.7169A>G	c.(7168-7170)AAC>AGC	p.N2390S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2390	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTTAGGAATAACAACCCTGCA	0.408													G	183714994	A	G	183714994	3	3	274	1	0	0	0	0	1	0	0	0	10836	43	2	3	7267	3	ODZ3	4	183714994	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	39398	183714994	7439282	462	139768											
ENPP6	133121	broad.mit.edu	37	chr4	185018425	185018425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccaggaagatgccccGcatgtccatgagctcgttgt	13	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:185018425G>A	uc003iwc.2	-	7	1232	c.1090C>T	c.(1090-1092)CGG>TGG	p.R364W		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	364	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-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;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AAGATGCCCCGCATGTCCATG	0.587													A	185018425	G	A	185018425	3	1	274	1	0	0	0	0	1	0	0	0	5134	1086	38	1	240	1	ENPP6	4	185018425	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1303431	185018425	6135851	463	139769											
FAM149A	25854	broad.mit.edu	37	chr4	187086608	187086608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagcagttcctggatgccGccttgtttctgtaagacaga	10	10	1	2	rs139840598	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:187086608G>A	uc003iyt.3	+	11	1733	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	FAM149A_uc011cla.1_Missense_Mutation_p.R385H|FAM149A_uc003iyu.3_Missense_Mutation_p.R385H|FAM149A_uc010isl.2_Missense_Mutation_p.R385H|FAM149A_uc011clb.1_Missense_Mutation_p.R385H	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	676										breast(1)	1		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)		CCTGGATGCCGCCTTGTTTCT	0.483													A	187086608	G	A	187086608	3	1	274	1	0	0	0	0	1	0	0	0	5455	1087	38	1	1184	1	FAM149A	4	187086608	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2068183	187086608	4067668	464	139770											
FAT1	2195	broad.mit.edu	37	chr4	187519138	187519138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatacctctgaccagtaTataatcctctacactggcaa	4	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:187519138T>C	uc003izf.2	-	23	12433	c.12245A>G	c.(12244-12246)TAT>TGT	p.Y4082C	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4082	Extracellular (Potential).|EGF-like 3.				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CTGACCAGTATATAATCCTCT	0.388										HNSCC(5;0.00058)			C	187519138	T	C	187519138	3	2	274	1	0	0	0	0	1	0	0	0	5689	1406	49	3	1541	3	FAT1	4	187519138	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	432530	187519138	3635138	465	139771											
ZFP42	132625	broad.mit.edu	37	chr4	188924698	188924698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggagagaagccgtttcGgtgcacttttgaagggtgcg	15	7	0	2	rs147517413	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr4:188924698G>A	uc003izg.1	+	3	982	c.737G>A	c.(736-738)CGG>CAG	p.R246Q	ZFP42_uc003izh.1_Missense_Mutation_p.R246Q|ZFP42_uc003izi.1_Missense_Mutation_p.R246Q	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	246	C2H2-type 3.				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		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)		AAGCCGTTTCGGTGCACTTTT	0.522													A	188924698	G	A	188924698	3	1	274	1	0	0	0	0	1	0	0	0	17647	1116	39	1	739	1	ZFP42	4	188924698	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1405560	188924698	2229578	466	139772											
LRRC14B	389257	broad.mit.edu	37	chr5	192310	192310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcaagctggaggtggtGcacaacgtgcggctgcatgc	16	11	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:192310G>A	uc003jal.1	+	1	685	c.657G>A	c.(655-657)GTG>GTA	p.V219V		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	219										skin(1)	1						TGGAGGTGGTGCACAACGTGC	0.706													A	192310	G	A	192310	2	1	274	1	0	0	0	0	0	0	0	1	8969	1306	46	2		2	LRRC14B	5	192310	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		192310	180722950	467	139773											
SLC6A3	6531	broad.mit.edu	37	chr5	1416275	1416275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcaccccgaaccccacGcccagggagaagcacacctg	9	18	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:1416275G>A	uc003jck.2	-	7	1090	c.969C>T	c.(967-969)GGC>GGT	p.G323G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	323	Helical; Name=6; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			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)	CGAACCCCACGCCCAGGGAGA	0.622													A	1416275	G	A	1416275	2	1	274	1	0	0	0	0	0	0	0	1	14685	1074	38	1		1	SLC6A3	5	1416275	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1223965	1416275	179498985	468	139774											
SLC6A3	6531	broad.mit.edu	37	chr5	1432617	1432617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggtcccaaaagtgtcGttgaggcccgagctgtctcc	14	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:1432617G>A	uc003jck.2	-	4	736	c.615C>T	c.(613-615)AAC>AAT	p.N205N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	205	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			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)	CAAAAGTGTCGTTGAGGCCCG	0.617													A	1432617	G	A	1432617	2	1	274	1	0	0	0	0	0	0	0	1	14685	1136	40	1		1	SLC6A3	5	1432617	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	16342	1432617	179482643	469	139775											
C5orf38	153571	broad.mit.edu	37	chr5	2753429	2753429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagttgcaaactgcagtgCtgtgcttgaggatggctcct	12	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:2753429C>A	uc003jdc.2	+	3	481	c.364C>A	c.(364-366)CTG>ATG	p.L122M	C5orf38_uc011cmg.1_Missense_Mutation_p.L122M|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	122						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)		AACTGCAGTGCTGTGCTTGAG	0.657													A	2753429	C	A	2753429	3	1	274	1	0	0	0	0	1	0	0	0	2296	796	28	5	374	5	C5orf38	5	2753429	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1320812	2753429	178161831	470	139776											
NSUN2	54888	broad.mit.edu	37	chr5	6602599	6602599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggttcatacttcagcaCgatgcttccctttgctggaa	8	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:6602599C>T	uc003jdu.2	-	18	2037	c.1972G>A	c.(1972-1974)GTG>ATG	p.V658M	NSUN2_uc003jds.2_Missense_Mutation_p.V104M|NSUN2_uc003jdt.2_Missense_Mutation_p.V422M|NSUN2_uc011cmk.1_Missense_Mutation_p.V623M|NSUN2_uc003jdv.2_Missense_Mutation_p.V422M	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	658						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						TACTTCAGCACGATGCTTCCC	0.483													T	6602599	C	T	6602599	3	4	274	1	0	0	0	0	1	0	0	0	10678	536	19	1	339	1	NSUN2	5	6602599	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3849170	6602599	174312661	471	139777											
MARCH6	10299	broad.mit.edu	37	chr5	10415634	10415634	+	Frame_Shift_Del	DEL	G	G	-													tggttaatgtcgttttggacGgggactgccaaaatccatga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:10415633_10415633CG>C	uc003jet.1	+	20	2183	c.2000_2000CG>C	c.(1999-2001)acgfs	p.T667fs	MARCH6_uc011cmu.1_Frame_Shift_Del_p.T619fs|MARCH6_uc003jeu.1_Frame_Shift_Del_p.T365fs|MARCH6_uc011cmv.1_Frame_Shift_Del_p.T562fs	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	667					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.T667M(2)|p.T667T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCGTTTTGGACGGGGACTGCC	0.453													-	10415634	G	-	10415634	7	5	274	1	0	1	0	1	0	0	0	0	9305	1103	39	0	2083	0	MARCH6	5	10415634	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	3813035	10415634	170499626	472	139778											
TRIO	7204	broad.mit.edu	37	chr5	14462945	14462945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctgtggagaagaggaaGgcgaggagggggccgacgcc	21	7	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:14462945G>T	uc003jff.2	+	36	5584	c.5578G>T	c.(5578-5580)GGC>TGC	p.G1860C	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.G1509C|TRIO_uc003jfi.1_Missense_Mutation_p.G163C	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1860					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			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGAAGAGGAAGGCGAGGAGGG	0.622													T	14462945	G	T	14462945	3	4	274	1	0	0	0	0	1	0	0	0	16549	1000	35	5	5720	5	TRIO	5	14462945	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4047311	14462945	166452315	473	139779											
CDH6	1004	broad.mit.edu	37	chr5	31323340	31323340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatcaagactatgattaCcttagtgactggggacctcg	11	9	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:31323340C>T	uc003jhe.1	+	12	2624	c.2298C>T	c.(2296-2298)TAC>TAT	p.Y766Y		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	766	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						ACTATGATTACCTTAGTGACT	0.488													T	31323340	C	T	31323340	2	4	274	1	0	0	0	0	0	0	0	1	3114	518	18	4		4	CDH6	5	31323340	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	16860395	31323340	149591920	474	139780											
PDZD2	23037	broad.mit.edu	37	chr5	32074219	32074219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagaggatgacccgaggCgtgtctcaatttcctcttcc	10	12	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:32074219C>T	uc003jhl.2	+	18	3395	c.3007C>T	c.(3007-3009)CGT>TGT	p.R1003C	PDZD2_uc003jhm.2_Missense_Mutation_p.R1003C|PDZD2_uc011cnx.1_Missense_Mutation_p.R829C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1003					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TGACCCGAGGCGTGTCTCAAT	0.577													T	32074219	C	T	32074219	3	4	274	1	0	0	0	0	1	0	0	0	11701	768	27	1	3073	1	PDZD2	5	32074219	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	750879	32074219	148841041	475	139781											
PDZD2	23037	broad.mit.edu	37	chr5	32091085	32091085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgagcgccgtgctcttcAaaactgagctggagatcacc	12	13	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:32091085A>G	uc003jhl.2	+	20	7919	c.7531A>G	c.(7531-7533)AAA>GAA	p.K2511E	PDZD2_uc003jhm.2_Missense_Mutation_p.K2511E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2511					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CGTGCTCTTCAAAACTGAGCT	0.627													G	32091085	A	G	32091085	3	3	274	1	0	0	0	0	1	0	0	0	11701	131	5	3	7605	3	PDZD2	5	32091085	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	16866	32091085	148824175	476	139782											
ADAMTS12	81792	broad.mit.edu	37	chr5	33535021	33535021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatagacattggtcttggTcttcagttttattgccctct	7	10	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33535021T>C	uc003jia.1	-	23	4686	c.4523A>G	c.(4522-4524)GAC>GGC	p.D1508G	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1423G	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1508	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTGGTCTTGGTCTTCAGTTTT	0.483										HNSCC(64;0.19)			C	33535021	T	C	33535021	3	2	274	1	0	0	0	0	1	0	0	0	257	1667	58	3	269	3	ADAMTS12	5	33535021	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1443936	33535021	147380239	477	139783											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576948	33576948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgtttcccacccagGtctccttctttggaggctgt	9	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33576948G>A	uc003jia.1	-	19	3346	c.3183C>T	c.(3181-3183)GAC>GAT	p.D1061D	ADAMTS12_uc010iuq.1_Silent_p.D976D	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1061	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TCCCACCCAGGTCTCCTTCTT	0.562										HNSCC(64;0.19)			A	33576948	G	A	33576948	2	1	274	1	0	0	0	0	0	0	0	1	257	1252	44	4		4	ADAMTS12	5	33576948	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	41927	33576948	147338312	478	139784											
ADAMTS12	81792	broad.mit.edu	37	chr5	33614468	33614468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgatgccagggttagtcAcctggaatagaagctaaaag	11	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33614468A>C	uc003jia.1	-	16	2565	c.2402T>G	c.(2401-2403)GTG>GGG	p.V801G	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V716G	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	801	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGGGTTAGTCACCTGGAATAG	0.438										HNSCC(64;0.19)			C	33614468	A	C	33614468	3	2	274	1	0	0	0	0	1	0	0	0	257	159	6	5	2418	5	ADAMTS12	5	33614468	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	37520	33614468	147300792	479	139785											
ADAMTS12	81792	broad.mit.edu	37	chr5	33649727	33649727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgggatcgtactggagCtggcgggacatgatgtacgg	19	6	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:33649727C>A	uc003jia.1	-	8	1429	c.1266G>T	c.(1264-1266)CAG>CAT	p.Q422H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q422H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	422	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CGTACTGGAGCTGGCGGGACA	0.552										HNSCC(64;0.19)			A	33649727	C	A	33649727	3	1	274	1	0	0	0	0	1	0	0	0	257	796	28	5	3586	5	ADAMTS12	5	33649727	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	35259	33649727	147265533	480	139786											
C5orf42	65250	broad.mit.edu	37	chr5	37142580	37142580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccatatgggtcaaaaaacGcactaatccagagtatatat	6	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:37142580G>A	uc011cpa.1	-	43	8533	c.8302C>T	c.(8302-8304)CGT>TGT	p.R2768C	C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.R1286C|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R1861C	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2768										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTCAAAAAACGCACTAATCCA	0.333													A	37142580	G	A	37142580	3	1	274	1	0	0	0	0	1	0	0	0	2301	1087	38	1	1331	1	C5orf42	5	37142580	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3492853	37142580	143772680	481	139787											
C9	735	broad.mit.edu	37	chr5	39341801	39341801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatgcttcttgaacgaAactgcacaatatcagttgga	7	10	3	1	rs140251849		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:39341801A>T	uc003jlv.3	-	3	274	c.185T>A	c.(184-186)TTT>TAT	p.F62Y		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	62	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	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)			TCTTGAACGAAACTGCACAAT	0.433													T	39341801	A	T	39341801	3	4	274	1	0	0	0	0	1	0	0	0	2443	28	1	5	1530	5	C9	5	39341801	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2199221	39341801	141573459	482	139788											
HEATR7B2	133558	broad.mit.edu	37	chr5	41070947	41070947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatggattcctctgtactaAgtgtcatgtcttggctgttt	9	8	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:41070947A>C	uc003jmj.3	-	1	498	c.8T>G	c.(7-9)CTT>CGT	p.L3R		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	3							binding			ovary(6)|central_nervous_system(2)	8						CTCTGTACTAAGTGTCATGTC	0.398													C	41070947	A	C	41070947	3	2	274	1	0	0	0	0	1	0	0	0	7035	72	3	5	4917	5	HEATR7B2	5	41070947	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1729146	41070947	139844313	483	139789											
C6	729	broad.mit.edu	37	chr5	41176626	41176626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatagagaaggtcatacacGcctcccagggagccagaggt	13	10	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:41176626G>A	uc003jmk.2	-	8	1329	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	C6_uc003jml.1_Silent_p.G373G	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	373	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGTCATACACGCCTCCCAGGG	0.428													A	41176626	G	A	41176626	2	1	274	1	0	0	0	0	0	0	0	1	2315	1074	38	1		1	C6	5	41176626	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	105679	41176626	139738634	484	139790											
ISL1	3670	broad.mit.edu	37	chr5	50679529	50679529	+	Frame_Shift_Del	DEL	A	A	-													ggagacatgggagatccaccAaaaagtaagaggctatttta							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:50679529delA	uc003jor.2	+	1	572	c.24delA	c.(22-24)CCAfs	p.P8fs	uc003joq.1_5'Flank	NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	8					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				GAGATCCACCAAAAAGTAAGA	0.512													-	50679529	A	-	50679529	7	5	274	1	0	1	0	1	0	0	0	0	7856	117	5	0	26	0	ISL1	5	50679529	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	9502903	50679529	130235731	485	139791											
PIK3R1	5295	broad.mit.edu	37	chr5	67569823	67569823	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaacctggcagaattaCgacagcttcttgattgtggt	10	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:67569823C>T	uc003jva.2	+	4	1044	c.484C>T	c.(484-486)CGA>TGA	p.R162*	PIK3R1_uc003jvb.2_Nonsense_Mutation_p.R162*	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	162	Rho-GAP.				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.?(2)|p.R162*(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		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)	GGCAGAATTACGACAGCTTCT	0.443			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			T	67569823	C	T	67569823	4	4	274	1	0	0	0	0	0	1	0	0	11918	528	19	1	494	1	PIK3R1	5	67569823	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	16890294	67569823	113345437	486	139792											
ZNF366	167465	broad.mit.edu	37	chr5	71756809	71756809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtagtaggggtagggcGtgggcaggaatggagtgggc	24	3	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:71756809G>A	uc003kce.1	-	2	701	c.515C>T	c.(514-516)ACG>ATG	p.T172M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGGTAGGGCGTGGGCAGGAA	0.652													A	71756809	G	A	71756809	3	1	274	1	0	0	0	0	1	0	0	0	17867	1145	40	1	1735	1	ZNF366	5	71756809	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4186986	71756809	109158451	487	139793											
THBS4	7060	broad.mit.edu	37	chr5	79331376	79331376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacatgctggccccgcgcGgagccgccgtcctcctgctg	12	19	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:79331376G>A	uc003kgh.2	+	2	339	c.16G>A	c.(16-18)GGA>AGA	p.G6R		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	6					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGCCCCGCGCGGAGCCGCCGT	0.761													A	79331376	G	A	79331376	3	1	274	1	0	0	0	0	1	0	0	0	15853	1117	39	1	18	1	THBS4	5	79331376	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	7574567	79331376	101583884	488	139794											
THBS4	7060	broad.mit.edu	37	chr5	79355572	79355572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcacggtggtgcccccGgctccccctgcaccgccaac	10	21	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:79355572G>A	uc003kgh.2	+	8	1154	c.831G>A	c.(829-831)CCG>CCA	p.P277P		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	277					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGTGCCCCCGGCTCCCCCTG	0.562													A	79355572	G	A	79355572	2	1	274	1	0	0	0	0	0	0	0	1	15853	1103	39	1		1	THBS4	5	79355572	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	24196	79355572	101559688	489	139795											
GPR98	84059	broad.mit.edu	37	chr5	90049480	90049480	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcagaggttgtgattgtAaccctcacccgtatcaccac	7	12	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:90049480A>G	uc003kju.2	+	54	11307	c.11211A>G	c.(11209-11211)GTA>GTG	p.V3737V	GPR98_uc003kjt.2_Silent_p.V1443V|GPR98_uc003kjv.2_Silent_p.V1337V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3737	Calx-beta 24.|Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TTGTGATTGTAACCCTCACCC	0.393													G	90049480	A	G	90049480	2	3	274	1	0	0	0	0	0	0	0	1	6721	349	13	3		3	GPR98	5	90049480	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	10693908	90049480	90865780	490	139796											
GPR98	84059	broad.mit.edu	37	chr5	90144541	90144541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcttattaacccaaagCgcaaggacactaggggattc	9	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:90144541C>T	uc003kju.2	+	79	17203	c.17107C>T	c.(17107-17109)CGC>TGC	p.R5703C	GPR98_uc003kjt.2_Missense_Mutation_p.R3409C|GPR98_uc003kjw.2_Missense_Mutation_p.R1364C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5703	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TAACCCAAAGCGCAAGGACAC	0.403													T	90144541	C	T	90144541	3	4	274	1	0	0	0	0	1	0	0	0	6721	768	27	1	17421	1	GPR98	5	90144541	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	95061	90144541	90770719	491	139797											
CAST	831	broad.mit.edu	37	chr5	96086328	96086328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctcctgtgtcggaggCtgtgtgtcggacctccatgt	13	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:96086328C>T	uc003klz.1	+	18	1379	c.1217C>T	c.(1216-1218)GCT>GTT	p.A406V	CAST_uc003klt.2_Missense_Mutation_p.A393V|CAST_uc003klu.2_Missense_Mutation_p.A489V|CAST_uc003klv.2_Missense_Mutation_p.A467V|CAST_uc003klw.2_Missense_Mutation_p.A470V|CAST_uc003klx.2_Missense_Mutation_p.A448V|CAST_uc003kly.2_Missense_Mutation_p.A454V|CAST_uc011cuo.1_Missense_Mutation_p.A452V|CAST_uc011cuq.1_Missense_Mutation_p.A254V|CAST_uc011cur.1_Missense_Mutation_p.A392V|CAST_uc011cus.1_Missense_Mutation_p.A393V|CAST_uc003kma.1_Missense_Mutation_p.A365V|CAST_uc011cut.1_Missense_Mutation_p.A334V|CAST_uc003kmb.2_Missense_Mutation_p.A352V|CAST_uc003kmc.2_Missense_Mutation_p.A406V|CAST_uc003kmd.2_Missense_Mutation_p.A384V|CAST_uc003kme.2_Missense_Mutation_p.A365V|CAST_uc003kmf.2_Missense_Mutation_p.A371V|CAST_uc003kmh.2_Missense_Mutation_p.A121V|CAST_uc010jbj.2_Missense_Mutation_p.A121V|CAST_uc010jbk.2_Missense_Mutation_p.A121V|CAST_uc010jbl.1_Missense_Mutation_p.A129V|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.A129V	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	406							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GTGTCGGAGGCTGTGTGTCGG	0.488													T	96086328	C	T	96086328	3	4	274	1	0	0	0	0	1	0	0	0	2684	797	28	2	1668	2	CAST	5	96086328	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5941787	96086328	84828932	492	139798											
ERAP2	64167	broad.mit.edu	37	chr5	96244664	96244664	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatttgttttatacttcaGtgcagggagactgaccctag	10	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:96244664G>A	uc003kmq.2	+	14	2723	c.2013_splice	c.e14-1	p.G671_splice	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.G671_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Splice_Site_p.G620_splice|ERAP2_uc003kmu.2_Splice_Site	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTATACTTCAGTGCAGGGAGA	0.363													A	96244664	G	A	96244664	5	1	274	1	0	0	0	0	0	0	1	0	5204	1043	36	4	2062	4	ERAP2	5	96244664	Splice_Site	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	158336	96244664	84670596	493	139799											
RGMB	285704	broad.mit.edu	37	chr5	98129042	98129042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtatgcctgaagacctggCcatgtcctacgaggagagcc	12	13	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:98129042C>T	uc003knc.2	+	5	1424	c.1022C>T	c.(1021-1023)GCC>GTC	p.A341V		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	300					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GAAGACCTGGCCATGTCCTAC	0.612													T	98129042	C	T	98129042	3	4	274	1	0	0	0	0	1	0	0	0	13281	739	26	2	1036	2	RGMB	5	98129042	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1884378	98129042	82786218	494	139800											
APC	324	broad.mit.edu	37	chr5	112175650	112175651	+	Frame_Shift_Ins	INS	-	-	A													aaaccaagcgagaagtacctINSaaaaataaagcacctactgc					rs111866410	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112175650_112175651insA	uc010jby.2	+	16	4739_4740	c.4359_4360insA	c.(4357-4362)CCTAAAfs	p.P1453fs	APC_uc011cvt.1_Frame_Shift_Ins_p.P1435fs|APC_uc003kpz.3_Frame_Shift_Ins_p.P1453fs|APC_uc003kpy.3_Frame_Shift_Ins_p.P1453fs|APC_uc010jbz.2_Frame_Shift_Ins_p.P1170fs|APC_uc010jca.2_Frame_Shift_Ins_p.P753fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1453_1454	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.P1453fs*20(3)|p.K1454E(3)|p.P1453S(1)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1453fs*4(1)|p.P1453fs*19(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		GAGAAGTACCTAAAAATAAAGC	0.48		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			A	112175651	-	A	112175650	7	5	274	1	0	1	1	0	0	0	0	0	763	1509	53	0	4417	0	APC	5	112175650	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	14046608	112175650	68739610	495	139801	750	2									
APC	324	broad.mit.edu	37	chr5	112175651	112175652	+	Frame_Shift_Ins	INS	-	-	A													aaccaagcgagaagtacctaINSaaaataaagcacctactgct					rs111866410	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112175650_112175651T>TA	uc003kpz.4	+	16	4552_4553	c.4359_4360T>TA	c.(4357-4362)cctaaafs	p.P1453fs	APC_uc011cvt.2_Frame_Shift_Ins_p.P1435fs|APC_uc003kpy.4_Frame_Shift_Ins_p.P1453fs|APC_uc010jbz.3_Frame_Shift_Ins_p.P1170fs|APC_uc010jca.3_Frame_Shift_Ins_p.P753fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1453	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.K1454E(8)|p.P1453fs*20(5)|p.P1453fs*4(2)|p.K1454fs*20(2)|p.P1453fs*19(2)|p.P1453S(1)|p.K1454fs*3(1)|p.?(1)|p.P1424fs*19(1)|p.P1453?(1)|p.K1192fs*3(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)		GAGAAGTACCTAAAAATAAAGC	0.48		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)			A	112175652	-	A	112175651	7	5	274	1	0	1	1	0	0	0	0	0	763	363	13	0	4418	0	APC	5	112175651	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1	112175651	68739609	496	139802	750	2									
SRP19	6728	broad.mit.edu	37	chr5	112203163	112203163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacaaggacacaaaaaAcaggaggtgctgaccaaagt	9	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112203163A>C	uc003kqc.2	+	5	445	c.364A>C	c.(364-366)ACA>CCA	p.T122P	SRP19_uc003kqb.1_3'UTR|SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	122					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GACACAAAAAACAGGAGGTGC	0.308													C	112203163	A	C	112203163	3	2	274	1	0	0	0	0	1	0	0	0	15153	43	2	5	382	5	SRP19	5	112203163	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	27512	112203163	68712097	497	139803											
MCC	4163	broad.mit.edu	37	chr5	112403779	112403780	+	Splice_Site	INS	-	-	G													actctggagacacttaccagINSgggaggaccccacgcccgcc					rs35269015	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112403778_112403779A>AG	uc003kql.4	-	13	2445	c.2029_splice	c.e13+1	p.G677_splice	MCC_uc003kqj.4_Splice_Site_p.G487_splice|MCC_uc003kqk.4_Splice_Site|MCC_uc011cwb.1_Splice_Site_p.G487_splice	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	487					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	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)		GACACTTACCAGGGGAGGACCC	0.604													G	112403780	-	G	112403779	8	5	274	1	0	1	1	0	0	0	1	0	9373	1000	35	0	1060	0	MCC	5	112403779	Splice_Site	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	200616	112403779	68511481	498	139804											
MCC	4163	broad.mit.edu	37	chr5	112406880	112406880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggcattgcttttacattcCtccaaggttatggtcaggag	10	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:112406880C>A	uc003kqj.3	-	10	1796	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E612D|MCC_uc011cwb.1_Missense_Mutation_p.E422D|MCC_uc010jcd.1_Missense_Mutation_p.E384D	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	422					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			ovary(1)	1		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)		TTTTACATTCCTCCAAGGTTA	0.473													A	112406880	C	A	112406880	3	1	274	1	0	0	0	0	1	0	0	0	9373	680	24	5	1255	5	MCC	5	112406880	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3101	112406880	68508380	499	139805											
DMXL1	1657	broad.mit.edu	37	chr5	118560435	118560435	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agccattaataatgttagaaGaatgacttctcatccaactc	5	9	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:118560435G>T	uc003ksd.2	+	37	8427	c.8246G>T	c.(8245-8247)AGA>ATA	p.R2749I	DMXL1_uc010jcl.1_Missense_Mutation_p.R2770I|DMXL1_uc010jcm.1_RNA	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2749	WD 11.									ovary(2)	2		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)		AATGTTAGAAGAATGACTTCT	0.239													T	118560435	G	T	118560435	3	4	274	1	0	0	0	0	1	0	0	0	4594	942	33	5	8392	5	DMXL1	5	118560435	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6153555	118560435	62354825	500	139806											
HSD17B4	3295	broad.mit.edu	37	chr5	118842530	118842530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaaaattaaaatgtgaaGcagttgttgctgatgtccta	10	4	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:118842530G>A	uc003ksj.2	+	15	1402	c.1279G>A	c.(1279-1281)GCA>ACA	p.A427T	HSD17B4_uc011cwg.1_Missense_Mutation_p.A403T|HSD17B4_uc011cwh.1_Missense_Mutation_p.A409T|HSD17B4_uc011cwi.1_Missense_Mutation_p.A452T|HSD17B4_uc003ksk.3_Missense_Mutation_p.A280T|HSD17B4_uc011cwj.1_Missense_Mutation_p.A280T|HSD17B4_uc010jcn.1_Missense_Mutation_p.A165T	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	427	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			ovary(1)|pancreas(1)	2		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)	AAAATGTGAAGCAGTTGTTGC	0.274													A	118842530	G	A	118842530	3	1	274	1	0	0	0	0	1	0	0	0	7386	971	34	2	1337	2	HSD17B4	5	118842530	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	282095	118842530	62072730	501	139807											
SNX24	28966	broad.mit.edu	37	chr5	122281825	122281825	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaaagtcttggaacagCgacgacaaggcttggaaaca	10	11	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:122281825C>T	uc011cwo.1	+	3	389	c.220C>T	c.(220-222)CGA>TGA	p.R74*	SNX24_uc003ktf.2_Nonsense_Mutation_p.R74*|SNX24_uc010jcy.2_Nonsense_Mutation_p.R74*	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	SBBI31 protein	74	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0		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)		CTTGGAACAGCGACGACAAGG	0.343													T	122281825	C	T	122281825	4	4	274	1	0	0	0	0	0	1	0	0	14895	760	27	1	230	1	SNX24	5	122281825	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3439295	122281825	58633435	502	139808											
MEGF10	84466	broad.mit.edu	37	chr5	126770487	126770487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgactgcttgcctgGcttcacaggcgccctctgca	11	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:126770487G>A	uc003kuh.3	+	16	2311	c.1949G>A	c.(1948-1950)GGC>GAC	p.G650D	MEGF10_uc003kui.3_Missense_Mutation_p.G650D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	650	Extracellular (Potential).|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				ovary(4)	4		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)		TGCTTGCCTGGCTTCACAGGC	0.627													A	126770487	G	A	126770487	3	1	274	1	0	0	0	0	1	0	0	0	9460	1203	42	2	2003	2	MEGF10	5	126770487	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4488662	126770487	54144773	503	139809											
FBN2	2201	broad.mit.edu	37	chr5	127704974	127704974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcaccggggaaaggacGcacacacactcctttcttga	9	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:127704974G>A	uc003kuu.2	-	16	2588	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C	FBN2_uc003kuv.2_Missense_Mutation_p.R684C	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	717	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		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)		GGGAAAGGACGCACACACACT	0.483													A	127704974	G	A	127704974	3	1	274	1	0	0	0	0	1	0	0	0	5703	1087	38	1	6789	1	FBN2	5	127704974	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	934487	127704974	53210286	504	139810											
SHROOM1	134549	broad.mit.edu	37	chr5	132161101	132161101	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctggagcaggcctcAcccaggcattcccgcgccgg	13	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:132161101A>G	uc003kxx.2	-	4	1537	c.732T>C	c.(730-732)GGT>GGC	p.G244G	SHROOM1_uc003kxy.1_Silent_p.G244G	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	244					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCAGGCCTCACCCAGGCATT	0.677													G	132161101	A	G	132161101	2	3	274	1	0	0	0	0	0	0	0	1	14293	146	6	3		3	SHROOM1	5	132161101	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4456127	132161101	48754159	505	139811											
VDAC1	7416	broad.mit.edu	37	chr5	133328039	133328039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaatcaagctttattaaGccaaatcctaaagaaagaag	5	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:133328039G>A	uc003kyp.1	-	3	174	c.75C>T	c.(73-75)GGC>GGT	p.G25G	VDAC1_uc003kyq.1_Silent_p.G25G|VDAC1_uc003kyr.1_Silent_p.G25G	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	25					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GCTTTATTAAGCCAAATCCTA	0.323													A	133328039	G	A	133328039	2	1	274	1	0	0	0	0	0	0	0	1	17143	958	34	2		2	VDAC1	5	133328039	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1166938	133328039	47587221	506	139812											
PCDHA1	56147	broad.mit.edu	37	chr5	140165992	140165992	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactcgatcccggaggaagcCaaacacggcaccttcgttgg	11	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140165992C>A	uc003lhb.2	+	1	117	c.117C>A	c.(115-117)GCC>GCA	p.A39A	PCDHA1_uc003lha.2_Silent_p.A39A|PCDHA1_uc003lgz.2_Silent_p.A39A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	39	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGGAAGCCAAACACGGCA	0.667													A	140165992	C	A	140165992	2	1	274	1	0	0	0	0	0	0	0	1	11519	581	21	5		5	PCDHA1	5	140165992	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6837953	140165992	40749268	507	139813											
PCDHA1	56147	broad.mit.edu	37	chr5	140167380	140167380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacggcgggtgggcgagcGcgcgctgtcgaactacgtgt	19	10	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140167380G>A	uc003lhb.2	+	1	1505	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PCDHA1_uc003lha.2_Missense_Mutation_p.R502H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R502H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCGCGCTGTCG	0.682													A	140167380	G	A	140167380	3	1	274	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1507	1	PCDHA1	5	140167380	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1388	140167380	40747880	508	139814											
PCDHA9	9752	broad.mit.edu	37	chr5	140229448	140229448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacgcaccagcgttcgcGcagtccgagtacacggtgtt	12	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140229448G>A	uc003lhu.2	+	1	2092	c.1368G>A	c.(1366-1368)GCG>GCA	p.A456A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A456A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	456	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGTTCGCGCAGTCCGAGT	0.672													A	140229448	G	A	140229448	2	1	274	1	0	0	0	0	0	0	0	1	11531	1074	38	1		1	PCDHA9	5	140229448	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	62068	140229448	40685812	509	139815											
PCDHA12	56137	broad.mit.edu	37	chr5	140256412	140256412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacgtgaacgacaatgCgcctgcgttcgcgcagcccg	14	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140256412C>T	uc003lic.2	+	1	1482	c.1355C>T	c.(1354-1356)GCG>GTG	p.A452V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A452V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	452	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCTGCGTTC	0.662													T	140256412	C	T	140256412	3	4	274	1	0	0	0	0	1	0	0	0	11522	768	27	1	1357	1	PCDHA12	5	140256412	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	26964	140256412	40658848	510	139816											
PCDHA12	56137	broad.mit.edu	37	chr5	140257112	140257112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgcgggcctcagtgggCgctgtggatcccgaagcggc	17	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140257112C>T	uc003lic.2	+	1	2182	c.2055C>T	c.(2053-2055)GGC>GGT	p.G685G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.G685G	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	685	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAGTGGGCGCTGTGGATC	0.647													T	140257112	C	T	140257112	2	4	274	1	0	0	0	0	0	0	0	1	11522	755	27	1		1	PCDHA12	5	140257112	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	700	140257112	40658148	511	139817											
PCDHA13	56136	broad.mit.edu	37	chr5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtggagagcggccaagCgccacaggcttcgtcgaggg	18	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140263877C>T	uc003lif.2	+	1	2024	c.2024C>T	c.(2023-2025)GCG>GTG	p.A675V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A675V|PCDHA13_uc003lid.2_Missense_Mutation_p.A675V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	675	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A675V(1)		ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662													T	140263877	C	T	140263877	3	4	274	1	0	0	0	0	1	0	0	0	11523	768	27	1	2026	1	PCDHA13	5	140263877	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6765	140263877	40651383	512	139818											
PCDHB4	56131	broad.mit.edu	37	chr5	140502247	140502247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtcaccacctaggtctGgcacggtcatggttcgaatc	13	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140502247G>A	uc003lip.1	+	1	667	c.667G>A	c.(667-669)GGC>AGC	p.G223S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	223	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTAGGTCTGGCACGGTCAT	0.542													A	140502247	G	A	140502247	3	1	274	1	0	0	0	0	1	0	0	0	11544	1348	47	4	669	4	PCDHB4	5	140502247	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	238370	140502247	40413013	513	139819											
PCDHB4	56131	broad.mit.edu	37	chr5	140503476	140503476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcagccaagcacaggct	15	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140503476C>T	uc003lip.1	+	1	1896	c.1896C>T	c.(1894-1896)CGC>CGT	p.R632R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	632	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.682													T	140503476	C	T	140503476	2	4	274	1	0	0	0	0	0	0	0	1	11544	755	27	1		1	PCDHB4	5	140503476	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1229	140503476	40411784	514	139820											
PCDHB6	56130	broad.mit.edu	37	chr5	140531428	140531428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcgagttccgcgtgggCgccacagaccgcggctcccc	12	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140531428C>T	uc003lir.2	+	1	1590	c.1590C>T	c.(1588-1590)GGC>GGT	p.G530G	PCDHB6_uc011dah.1_Silent_p.G394G	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	530	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGTGGGCGCCACAGACC	0.662													T	140531428	C	T	140531428	2	4	274	1	0	0	0	0	0	0	0	1	11546	755	27	1		1	PCDHB6	5	140531428	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	27952	140531428	40383832	515	139821											
PCDHB7	56129	broad.mit.edu	37	chr5	140554058	140554058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgaggcgctggtgCgcgtgctggtgctggacgcc	19	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140554058C>T	uc003lit.2	+	1	1816	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	548	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.721													T	140554058	C	T	140554058	3	4	274	1	0	0	0	0	1	0	0	0	11547	768	27	1	1644	1	PCDHB7	5	140554058	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	22630	140554058	40361202	516	139822											
PCDHB9	56127	broad.mit.edu	37	chr5	140568765	140568765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcacaatggggaggtgcGcaccgccaggctgctgagcg	18	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140568765G>A	uc003liw.1	+	3	1874	c.1874G>A	c.(1873-1875)CGC>CAC	p.R625H		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	625	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAGGTGCGCACCGCCAGG	0.692													A	140568765	G	A	140568765	3	1	274	1	0	0	0	0	1	0	0	0	11549	1087	38	1	1875	1	PCDHB9	5	140568765	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	14707	140568765	40346495	517	139823											
PCDHB12	56124	broad.mit.edu	37	chr5	140589394	140589394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacattactttaacagcAcctttggattttgaagcaat	8	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140589394A>G	uc003liz.2	+	1	1104	c.915A>G	c.(913-915)GCA>GCG	p.A305A	PCDHB12_uc011dak.1_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	305	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTAACAGCACCTTTGGATT	0.378													G	140589394	A	G	140589394	2	3	274	1	0	0	0	0	0	0	0	1	11537	146	6	3		3	PCDHB12	5	140589394	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	20629	140589394	40325866	518	139824											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725577	140725577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctccgccactgtcacGctcaccgtggccgtggccga	10	19	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140725577G>A	uc003ljm.1	+	1	1977	c.1977G>A	c.(1975-1977)ACG>ACA	p.T659T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T419T|PCDHGA3_uc011dap.1_Silent_p.T659T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	659	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGTCACGCTCACCGTGG	0.692													A	140725577	G	A	140725577	2	1	274	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDHGA3	5	140725577	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	136183	140725577	40189683	519	139825											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734936	140734936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctggggttggcgcccCgggagctggcggagcgcgga	21	11	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140734936C>T	uc003ljq.1	+	1	169	c.169C>T	c.(169-171)CGG>TGG	p.R57W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R57W	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	57	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGCGCCCCGGGAGCTGGC	0.637													T	140734936	C	T	140734936	3	4	274	1	0	0	0	0	1	0	0	0	11556	643	23	1	171	1	PCDHGA4	5	140734936	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	9359	140734936	40180324	520	139826											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746034	140746034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgtcatcgtgctgctgGtgctcagactgaggcgctgg	14	12	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140746034G>A	uc003lju.1	+	1	2137	c.2137G>A	c.(2137-2139)GTG>ATG	p.V713M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.V713M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	713	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGCTGGTGCTCAGACT	0.622													A	140746034	G	A	140746034	3	1	274	1	0	0	0	0	1	0	0	0	11557	1261	44	4	2139	4	PCDHGA5	5	140746034	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	11098	140746034	40169226	521	139827											
PCDHGB3	56102	broad.mit.edu	37	chr5	140752045	140752045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtttcacctagtagtggCgttggccttgatctcagtgc	11	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140752045C>T	uc003ljw.1	+	1	2084	c.2084C>T	c.(2083-2085)GCG>GTG	p.A695V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.A695V|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	695	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGTAGTGGCGTTGGCCTTG	0.572													T	140752045	C	T	140752045	3	4	274	1	0	0	0	0	1	0	0	0	11564	768	27	1	2086	1	PCDHGB3	5	140752045	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6011	140752045	40163215	522	139828											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763070	140763070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagcgggtgctggacCgggaggaagagcgggttcac	20	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140763070C>T	uc003lka.1	+	1	604	c.604C>T	c.(604-606)CGG>TGG	p.R202W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R202W	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	202	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGACCGGGAGGAAGA	0.622													T	140763070	C	T	140763070	3	4	274	1	0	0	0	0	1	0	0	0	11559	643	23	1	606	1	PCDHGA7	5	140763070	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	11025	140763070	40152190	523	139829											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793318	140793318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagagccgtgccaatggCgtcaagtacccggagctggt	14	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140793318C>T	uc003lkl.1	+	1	576	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.G192G	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	192	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCAATGGCGTCAAGTACC	0.597													T	140793318	C	T	140793318	2	4	274	1	0	0	0	0	0	0	0	1	11551	755	27	1		1	PCDHGA10	5	140793318	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	30248	140793318	40121942	524	139830											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802457	140802457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgagcctgttcgtgctgGaccagaacgacaatgcgccc	12	14	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140802457G>A	uc003lkq.1	+	1	1921	c.1663G>A	c.(1663-1665)GAC>AAC	p.D555N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.D555N|PCDHGA11_uc003lkp.1_Missense_Mutation_p.D555N	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGCTGGACCAGAACGA	0.627													A	140802457	G	A	140802457	3	1	274	1	0	0	0	0	1	0	0	0	11552	1174	41	4	1665	4	PCDHGA11	5	140802457	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	9139	140802457	40112803	525	139831											
PCDHGC5	56097	broad.mit.edu	37	chr5	140857132	140857132	+	Frame_Shift_Del	DEL	C	C	-													ctaaacctaagtgtctgggaCcccgacgccccgcagaatgc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140857131_140857131AC>A	uc003lkv.2	+	0	1563	c.1448_1448AC>A	c.(1447-1449)gacfs	p.D483fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.D483fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	480	Cadherin 5.				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)			AGTGTCTGGGACCCCGACGCC	0.483													-	140857132	C	-	140857132	7	5	274	1	0	1	0	1	0	0	0	0	11571	506	18	0		0	PCDHGC5	5	140857132	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	54675	140857132	40058128	526	139832											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866670	140866670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcccaccacagaagctgGtcattgtggtaaaggatagt	10	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:140866670G>A	uc003lky.1	+	1	1930	c.1930G>A	c.(1930-1932)GTC>ATC	p.V644I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.V644I|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	644	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAAGCTGGTCATTGTGGT	0.542													A	140866670	G	A	140866670	3	1	274	1	0	0	0	0	1	0	0	0	11570	1261	44	4	1932	4	PCDHGC4	5	140866670	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	9538	140866670	40048590	527	139833											
PCDH12	51294	broad.mit.edu	37	chr5	141335926	141335926	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actggggagtcctggatgcgGtatgagacttttccattaat	12	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:141335926G>C	uc003llx.2	-	1	2702	c.1491C>G	c.(1489-1491)TAC>TAG	p.Y497*		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	497	Extracellular (Potential).|Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGATGCGGTATGAGACTT	0.493													C	141335926	G	C	141335926	4	2	274	1	0	0	0	0	0	1	0	0	11510	1256	44	5	2079	5	PCDH12	5	141335926	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	469256	141335926	39579334	528	139834											
PCDH12	51294	broad.mit.edu	37	chr5	141336951	141336951	+	Frame_Shift_Del	DEL	G	G	-													tgggtcaagagctctgtccaGggggatccgggttcgcagag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:141336950_141336950AG>A	uc003llx.3	-	0	1678	c.467_467CT>T	c.(466-468)ctgfs	p.L156fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	156	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTGTCCAGGGGGATCCG	0.572													-	141336951	G	-	141336951	7	5	274	1	0	1	0	1	0	0	0	0	11510	991	35	0	3104	0	PCDH12	5	141336951	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	1025	141336951	39578309	529	139835											
ARHGAP26	23092	broad.mit.edu	37	chr5	142586820	142586820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggcccatgttctcggcGccatccagccctatgcccac	8	18	2	0	rs79503222		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:142586820G>A	uc011dbj.1	+	21	2081	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	ARHGAP26_uc003lmt.2_Silent_p.A682A|ARHGAP26_uc003lmw.2_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	682	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			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTCTCGGCGCCATCCAGCC	0.557													A	142586820	G	A	142586820	2	1	274	1	0	0	0	0	0	0	0	1	875	1074	38	1		1	ARHGAP26	5	142586820	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1249869	142586820	38328440	530	139836											
PLAC8L1	153770	broad.mit.edu	37	chr5	145465117	145465117	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactctccataatgcctggcGatgtcacactcaagacacat	6	14	3	1	rs142846473	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:145465117G>A	uc003lnv.2	-	3	372	c.300C>T	c.(298-300)ATC>ATT	p.I100I	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	100											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGCCTGGCGATGTCACACT	0.458													A	145465117	G	A	145465117	2	1	274	1	0	0	0	0	0	0	0	1	12016	1048	37	1		1	PLAC8L1	5	145465117	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2878297	145465117	35450143	531	139837											
RBM27	54439	broad.mit.edu	37	chr5	145651091	145651091	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcgaggaaagaccatgTcctctcaaggtcgaggaaga	14	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:145651091T>C	uc003lnz.3	+	19	3008	c.2842T>C	c.(2842-2844)TCC>CCC	p.S948P		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	948					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGACCATGTCCTCTCAAGG	0.468													C	145651091	T	C	145651091	3	2	274	1	0	0	0	0	1	0	0	0	13127	1667	58	3	2916	3	RBM27	5	145651091	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	185974	145651091	35264169	532	139838											
TIGD6	81789	broad.mit.edu	37	chr5	149375358	149375358	+	Frame_Shift_Del	DEL	A	A	-													tgtgctggggaagcaactggAaaaacactcctgtctcatca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149375357_149375357GA>G	uc003lri.3	-	1	1317	c.555_555TC>C	c.(553-555)ttcfs	p.F185fs	TIGD6_uc003lrj.3_Frame_Shift_Del_p.F185fs|TIGD6_uc021yft.1_Frame_Shift_Del_p.F185fs	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	185	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAAGCAACTGGAAAAACACTC	0.448													-	149375358	A	-	149375358	7	5	274	1	0	1	0	1	0	0	0	0	15897	246	9	0	1015	0	TIGD6	5	149375358	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	3724267	149375358	31539902	533	139839											
PDGFRB	5159	broad.mit.edu	37	chr5	149498325	149498325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacctttttgtaaccttcGcccaacagtctctcgagaag	6	13	1	1	rs139623802	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149498325G>A	uc003lro.2	-	21	3358	c.2889C>T	c.(2887-2889)GGC>GGT	p.G963G	PDGFRB_uc010jhd.2_Silent_p.G802G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	963	Cytoplasmic (Potential).				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	TGTAACCTTCGCCCAACAGTC	0.552			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								A	149498325	G	A	149498325	2	1	274	1	0	0	0	0	0	0	0	1	11662	1074	38	1		1	PDGFRB	5	149498325	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	122967	149498325	31416935	534	139840											
PDGFRB	5159	broad.mit.edu	37	chr5	149511617	149511617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catggtgtagtggccagcctCtgccaccttcacgcgaacca	10	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149511617C>T	uc003lro.2	-	8	1637	c.1168G>A	c.(1168-1170)GAG>AAG	p.E390K	PDGFRB_uc010jhd.2_Missense_Mutation_p.E229K	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	390	Ig-like C2-type 4.|Extracellular (Potential).				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		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)	TGGCCAGCCTCTGCCACCTTC	0.433			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149511617	C	T	149511617	3	4	274	1	0	0	0	0	1	0	0	0	11662	922	32	4	2216	4	PDGFRB	5	149511617	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	13292	149511617	31403643	535	139841											
NDST1	3340	broad.mit.edu	37	chr5	149927859	149927859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccggctctgacgcatcctCgaagctgcgtgccctccaga	11	17	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:149927859C>T	uc003lsk.3	+	12	2727	c.2225C>T	c.(2224-2226)TCG>TTG	p.S742L	NDST1_uc011dcj.1_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	742	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGCATCCTCGAAGCTGCGT	0.622													T	149927859	C	T	149927859	3	4	274	1	0	0	0	0	1	0	0	0	10255	893	31	1	2267	1	NDST1	5	149927859	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	416242	149927859	30987401	536	139842											
DCTN4	51164	broad.mit.edu	37	chr5	150090922	150090922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctttctgaaggctataAtgctatggaaagaaaaaaaa	9	5	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:150090922A>G	uc003lsv.2	-	13	1274	c.1172T>C	c.(1171-1173)ATT>ACT	p.I391T	DCTN4_uc003lsu.2_Missense_Mutation_p.I334T|DCTN4_uc010jhi.2_Missense_Mutation_p.I398T	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	391						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGCTATAATGCTATGGAA	0.383													G	150090922	A	G	150090922	3	3	274	1	0	0	0	0	1	0	0	0	4309	101	4	3	214	3	DCTN4	5	150090922	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	163063	150090922	30824338	537	139843											
ZNF300	91975	broad.mit.edu	37	chr5	150275714	150275716	+	In_Frame_Del	DEL	AGA	AGA	-													aatgaggggtgatttctgggAgaaggctttcccgcattcac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:150275713_150275715GAGA>G	uc021yfx.1	-	6	1562_1564	c.1134_1136TCTC>C	c.(1132-1137)ttctcc>ttCc	p.S379del	ZNF300_uc021yfy.1_In_Frame_Del_p.S363del|ZNF300_uc021yfz.1_In_Frame_Del_p.S327del	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	363					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)			TGATTTCTGGGAGAAGGCTTTCC	0.438													-	150275716	AGA	-	150275714	7	5	274	1	0	1	0	1	0	0	0	0	17828	304	11	0	731	0	ZNF300	5	150275714	In_Frame_Del	DEL	AGA	TCGA-HU-A4GU-01A-11D-A25D-08	184792	150275714	30639546	538	139844											
ITK	3702	broad.mit.edu	37	chr5	156649962	156649962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcgcactgcggcgcaaCgaagagtactgcctgctgga	13	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:156649962C>T	uc003lwo.1	+	6	667	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	195	SH3.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCGGCGCAACGAAGAGTACT	0.522			T	SYK	peripheral T-cell lymphoma								T	156649962	C	T	156649962	2	4	274	1	0	0	0	0	0	0	0	1	7909	535	19	1		1	ITK	5	156649962	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6374248	156649962	24265298	539	139845											
ADRA1B	147	broad.mit.edu	37	chr5	159344849	159344849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggctacccttcttcatcGctctaccgcttggtaagttg	9	13	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:159344849G>T	uc003lxt.1	+	1	1110	c.937G>T	c.(937-939)GCT>TCT	p.A313S		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	313	Helical; Name=6; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTTCTTCATCGCTCTACCGCT	0.463													T	159344849	G	T	159344849	3	4	274	1	0	0	0	0	1	0	0	0	335	1087	38	5	939	5	ADRA1B	5	159344849	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2694887	159344849	21570411	540	139846											
CCNJL	79616	broad.mit.edu	37	chr5	159707555	159707555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcaggaggcaggagacgGccacggtgtagagctgcttg	17	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:159707555G>A	uc003lyb.1	-	3	509	c.257C>T	c.(256-258)GCC>GTC	p.A86V	CCNJL_uc011dee.1_Missense_Mutation_p.A86V|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Missense_Mutation_p.A86V	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	86	Cyclin N-terminal.					nucleus					0	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)			GCAGGAGACGGCCACGGTGTA	0.617													A	159707555	G	A	159707555	3	1	274	1	0	0	0	0	1	0	0	0	2929	1203	42	2	1070	2	CCNJL	5	159707555	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	362706	159707555	21207705	541	139847											
PTTG1	9232	broad.mit.edu	37	chr5	159854859	159854859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttcacctgtgaagatgCcctctccaccatgggaatcc	7	17	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:159854859C>T	uc003lyj.2	+	5	553	c.508C>T	c.(508-510)CCC>TCC	p.P170S	PTTG1_uc003lyk.2_Missense_Mutation_p.P170S	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1	170	SH3-binding.			PSPP->LSAL: Strongly reduces transforming capability; when associated with A-163.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding				0	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)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TGTGAAGATGCCCTCTCCACC	0.517													T	159854859	C	T	159854859	3	4	274	1	0	0	0	0	1	0	0	0	12819	739	26	2	522	2	PTTG1	5	159854859	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	147304	159854859	21060401	542	139848											
ATP10B	23120	broad.mit.edu	37	chr5	160033846	160033846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggagtggcgtggagCggcagcacaggacggaccga	17	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:160033846C>T	uc003lym.1	-	19	3933	c.3086G>A	c.(3085-3087)CGC>CAC	p.R1029H	ATP10B_uc010jit.1_Missense_Mutation_p.R346H	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1029	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			TGGCGTGGAGCGGCAGCACAG	0.512													T	160033846	C	T	160033846	3	4	274	1	0	0	0	0	1	0	0	0	1117	768	27	1	1331	1	ATP10B	5	160033846	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	178987	160033846	20881414	543	139849											
SLIT3	6586	broad.mit.edu	37	chr5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaactggccaactgtccGtcgctgtcgcagccaatccg	11	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:168244398G>A	uc003mab.2	-	8	1120	c.700C>T	c.(700-702)CGG>TGG	p.R234W	SLIT3_uc010jjg.2_Missense_Mutation_p.R234W|SLIT3_uc010jji.2_Missense_Mutation_p.R234W|SLIT3_uc003mac.1_Missense_Mutation_p.R31W	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	234	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			ovary(3)|skin(1)	4	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)			CCAACTGTCCGTCGCTGTCGC	0.612													A	168244398	G	A	168244398	3	1	274	1	0	0	0	0	1	0	0	0	14741	1144	40	1	3987	1	SLIT3	5	168244398	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8210552	168244398	12670862	544	139850											
KCNIP1	30820	broad.mit.edu	37	chr5	170147330	170147330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccttcccacaggagtgCcccagtggtgtggtcaacga	11	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:170147330C>T	uc003mas.2	+	4	754	c.225C>T	c.(223-225)TGC>TGT	p.C75C	KCNIP1_uc003map.2_Silent_p.C73C|KCNIP1_uc003mat.2_Silent_p.C64C|KCNIP1_uc010jjp.2_Silent_p.C36C|KCNIP1_uc010jjq.2_Silent_p.C64C	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	75	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	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)			CACAGGAGTGCCCCAGTGGTG	0.552													T	170147330	C	T	170147330	2	4	274	1	0	0	0	0	0	0	0	1	8039	747	26	2		2	KCNIP1	5	170147330	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1902932	170147330	10767930	545	139851											
STK10	6793	broad.mit.edu	37	chr5	171482726	171482726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccttttcctgttgctgccGcaccttcagctgctctatca	7	16	3	0	rs140431437		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:171482726G>A	uc003mbo.1	-	16	2692	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	798	Gln-rich.|Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	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)			TGTTGCTGCCGCACCTTCAGC	0.612													A	171482726	G	A	171482726	3	1	274	1	0	0	0	0	1	0	0	0	15285	1086	38	1	530	1	STK10	5	171482726	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1335396	171482726	9432534	546	139852											
STK10	6793	broad.mit.edu	37	chr5	171509350	171509350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcttcatcagtttgaGctgctcttggaacctggtgt	9	10	5	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:171509350G>A	uc003mbo.1	-	12	2269	c.1969C>T	c.(1969-1971)CTC>TTC	p.L657F		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	657	Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	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)			ATCAGTTTGAGCTGCTCTTGG	0.478													A	171509350	G	A	171509350	3	1	274	1	0	0	0	0	1	0	0	0	15285	971	34	2	969	2	STK10	5	171509350	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	26624	171509350	9405910	547	139853											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171765430	171765430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccaggaaggggctccGctcaggacctggcagaacca	12	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:171765430G>A	uc003mbr.2	-	13	2850	c.2679C>T	c.(2677-2679)AGC>AGT	p.S893S		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	893	SH3 4.				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			ovary(3)|skin(1)	4	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)			AAGGGGCTCCGCTCAGGACCT	0.572													A	171765430	G	A	171765430	2	1	274	1	0	0	0	0	0	0	0	1	14257	1078	38	1		1	SH3PXD2B	5	171765430	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	256080	171765430	9149830	548	139854											
CPEB4	80315	broad.mit.edu	37	chr5	173317794	173317794	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagtatgctcgccccagctCtgcctttgcacctaaatcct	7	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:173317794C>T	uc003mcs.3	+	1	2464	c.1058C>T	c.(1057-1059)TCT>TTT	p.S353F	CPEB4_uc010jju.1_Missense_Mutation_p.S353F|CPEB4_uc010jjv.2_Missense_Mutation_p.S353F|CPEB4_uc011dfg.1_Missense_Mutation_p.S353F|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	353							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCCCCAGCTCTGCCTTTGCA	0.438													T	173317794	C	T	173317794	3	4	274	1	0	0	0	0	1	0	0	0	3803	913	32	4	1060	4	CPEB4	5	173317794	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1552364	173317794	7597466	549	139855											
SLC34A1	6569	broad.mit.edu	37	chr5	176813055	176813055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgtggcccttgctgaGcacacctgcccctgtgggga	14	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:176813055G>A	uc003mgk.3	+	3	278	c.177G>A	c.(175-177)GAG>GAA	p.E59E		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	59	Cytoplasmic (Potential).				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			ovary(1)	1	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)			CCCTTGCTGAGCACACCTGCC	0.692													A	176813055	G	A	176813055	2	1	274	1	0	0	0	0	0	0	0	1	14567	962	34	2		2	SLC34A1	5	176813055	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3495261	176813055	4102205	550	139856											
SLC34A1	6569	broad.mit.edu	37	chr5	176815130	176815130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcaacatccatggtggCcgtgatgctcctgacctgct	9	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:176815130C>T	uc003mgk.3	+	7	881	c.780C>T	c.(778-780)GGC>GGT	p.G260G		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	260	Extracellular (Potential).				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			ovary(1)	1	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)			TCCATGGTGGCCGTGATGCTC	0.602													T	176815130	C	T	176815130	2	4	274	1	0	0	0	0	0	0	0	1	14567	726	26	2		2	SLC34A1	5	176815130	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2075	176815130	4100130	551	139857											
B4GALT7	11285	broad.mit.edu	37	chr5	177031391	177031391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcactgggaagaagacGcatcctggggcccccaccgc	13	15	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:177031391G>A	uc003mhy.2	+	2	302	c.262G>A	c.(262-264)GCA>ACA	p.A88T	B4GALT7_uc003mhz.2_5'UTR	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	88	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	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)			GGAAGAAGACGCATCCTGGGG	0.711													A	177031391	G	A	177031391	3	1	274	1	0	0	0	0	1	0	0	0	1276	1087	38	1	268	1	B4GALT7	5	177031391	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	216261	177031391	3883869	552	139858											
HNRNPAB	3182	broad.mit.edu	37	chr5	177634161	177634161	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggttttgtgtttatcaccTttaaagaagaagaacccgtg	10	6	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:177634161T>G	uc003miu.2	+	5	861	c.604T>G	c.(604-606)TTT>GTT	p.F202V	HNRNPAB_uc003miv.2_Missense_Mutation_p.F202V|HNRNPAB_uc010jks.2_Missense_Mutation_p.F202V|HNRNPAB_uc003miw.2_Missense_Mutation_p.F202V|HNRNPAB_uc003mix.2_Missense_Mutation_p.F202V	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	202	RRM 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						GTTTATCACCTTTAAAGAAGA	0.448													G	177634161	T	G	177634161	3	3	274	1	0	0	0	0	1	0	0	0	7261	1609	56	5	618	5	HNRNPAB	5	177634161	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	602770	177634161	3281099	553	139859											
ZNF454	285676	broad.mit.edu	37	chr5	178373448	178373448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggccctgtacagggAcgtgatgctggagaactaca	14	10	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:178373448A>G	uc003mjo.1	+	3	393	c.122A>G	c.(121-123)GAC>GGC	p.D41G	ZNF454_uc010jkz.1_Missense_Mutation_p.D41G|ZNF454_uc003mjp.2_Silent_p.G76G	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CTGTACAGGGACGTGATGCTG	0.552													G	178373448	A	G	178373448	3	3	274	1	0	0	0	0	1	0	0	0	17920	275	10	3	128	3	ZNF454	5	178373448	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	739287	178373448	2541812	554	139860											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581820	178581820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggccacttacacgtgGccagtctcatgggccaccac	9	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:178581820G>A	uc003mjw.2	-	7	1233	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	ADAMTS2_uc011dgm.1_Silent_p.G411G	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	411	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		CTTACACGTGGCCAGTCTCAT	0.637													A	178581820	G	A	178581820	2	1	274	1	0	0	0	0	0	0	0	1	265	1190	42	2		2	ADAMTS2	5	178581820	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	208372	178581820	2333440	555	139861											
ADAMTS2	9509	broad.mit.edu	37	chr5	178585791	178585791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgtggtattcatcgtgGcccgtgtctggcttctgctg	13	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:178585791G>A	uc003mjw.2	-	6	1065	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G	ADAMTS2_uc011dgm.1_Silent_p.G355G	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	355	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	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)		ATTCATCGTGGCCCGTGTCTG	0.617													A	178585791	G	A	178585791	2	1	274	1	0	0	0	0	0	0	0	1	265	1190	42	2		2	ADAMTS2	5	178585791	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3971	178585791	2329469	556	139862											
TBC1D9B	23061	broad.mit.edu	37	chr5	179290598	179290598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggaggccaggatctgCtcaaaggagatgcaccagtc	14	9	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:179290598C>T	uc003mlh.2	-	22	3640	c.3603G>A	c.(3601-3603)GAG>GAA	p.E1201E	TBC1D9B_uc003mli.2_Silent_p.E1184E|TBC1D9B_uc003mlj.2_Silent_p.E1183E|TBC1D9B_uc003mlf.2_Silent_p.E275E|TBC1D9B_uc003mlg.2_Silent_p.E360E|TBC1D9B_uc011dgv.1_Silent_p.E360E	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1201						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)			CCAGGATCTGCTCAAAGGAGA	0.587													T	179290598	C	T	179290598	2	4	274	1	0	0	0	0	0	0	0	1	15625	796	28	2		2	TBC1D9B	5	179290598	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	704807	179290598	1624662	557	139863											
FLT4	2324	broad.mit.edu	37	chr5	180048661	180048661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatactcaggctgagcgtgGcgtggcgcgccccaggtgcc	17	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:180048661G>A	uc003mma.3	-	13	1980	c.1901C>T	c.(1900-1902)GCC>GTC	p.A634V	FLT4_uc003mlz.3_Missense_Mutation_p.A634V|FLT4_uc003mmb.1_Missense_Mutation_p.A167V|FLT4_uc011dgy.1_Missense_Mutation_p.A634V	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	634	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	GCTGAGCGTGGCGTGGCGCGC	0.677									Congenital_Hereditary_Lymphedema				A	180048661	G	A	180048661	3	1	274	1	0	0	0	0	1	0	0	0	5944	1203	42	2	2270	2	FLT4	5	180048661	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	758063	180048661	866599	558	139864											
OR2V2	285659	broad.mit.edu	37	chr5	180582844	180582844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacagggaggtgatgggggCactgaggaaggggctggacc	21	6	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:180582844C>A	uc011dhj.1	+	1	902	c.902C>A	c.(901-903)GCA>GAA	p.A301E		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGATGGGGGCACTGAGGAAG	0.493													A	180582844	C	A	180582844	3	1	274	1	0	0	0	0	1	0	0	0	11031	710	25	5	904	5	OR2V2	5	180582844	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	534183	180582844	332416	559	139865											
TRIM7	81786	broad.mit.edu	37	chr5	180622613	180622613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgctcgccgaggcgcacGcccttaagatccagagagag	13	15	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr5:180622613G>A	uc003mmz.1	-	7	1156	c.1089C>T	c.(1087-1089)GGC>GGT	p.G363G	TRIM7_uc003mmv.1_Silent_p.G181G|TRIM7_uc003mmw.1_Silent_p.G155G|TRIM7_uc003mmx.1_Silent_p.G155G|TRIM7_uc003mmy.1_Silent_p.G155G	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	363	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	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)		CGAGGCGCACGCCCTTAAGAT	0.677													A	180622613	G	A	180622613	2	1	274	1	0	0	0	0	0	0	0	1	16540	1074	38	1		1	TRIM7	5	180622613	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	39769	180622613	292647	560	139866											
IRF4	3662	broad.mit.edu	37	chr6	405052	405052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccacggccgctccctGccaagattccaggtgactct	9	17	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:405052G>A	uc003msz.3	+	8	1247	c.1134G>A	c.(1132-1134)CTG>CTA	p.L378L	IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.L377L	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	378					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			ovary(1)	1		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)		GCCGCTCCCTGCCAAGATTCC	0.517			T	IGH@	MM 								A	405052	G	A	405052	2	1	274	1	0	0	0	0	0	0	0	1	7832	1306	46	2		2	IRF4	6	405052	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		405052	170710015	561	139867											
HUS1B	135458	broad.mit.edu	37	chr6	656858	656858	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggcgcacgcggagcacgcaGaccttcgctagcctcgcgac	14	16	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:656858G>T	uc003mtg.2	-	1	107	c.87C>A	c.(85-87)GTC>GTA	p.V29V	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	29											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGAGCACGCAGACCTTCGCTA	0.667													T	656858	G	T	656858	2	4	274	1	0	0	0	0	0	0	0	1	7460	929	33	5		5	HUS1B	6	656858	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	251806	656858	170458209	562	139868											
TUBB2B	347733	broad.mit.edu	37	chr6	3225000	3225000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctacgcctcgtcctcGccctcctcctcctcgaactc	6	21	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:3225000G>A	uc003mvg.2	-	4	1514	c.1323C>T	c.(1321-1323)GGC>GGT	p.G441G	TUBB2B_uc010jnj.2_Silent_p.G404G|TUBB2B_uc010jnk.2_Silent_p.G369G|TUBB2B_uc003mvh.2_Silent_p.G414G|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	441					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCTCGTCCTCGCCCTCCTCCT	0.647													A	3225000	G	A	3225000	2	1	274	1	0	0	0	0	0	0	0	1	16752	1074	38	1		1	TUBB2B	6	3225000	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2568142	3225000	167890067	563	139869											
C6orf146	222826	broad.mit.edu	37	chr6	4069126	4069126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagaggtataggtgaaActggcattggagacctccat	12	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:4069126A>C	uc003mvx.2	-	7	1671	c.1331T>G	c.(1330-1332)GTT>GGT	p.V444G	C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.V381G	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826	444										ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TATAGGTGAAACTGGCATTGG	0.398													C	4069126	A	C	4069126	3	2	274	1	0	0	0	0	1	0	0	0	2335	43	2	5	199	5	C6orf146	6	4069126	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	844126	4069126	167045941	564	139870											
ALDH5A1	7915	broad.mit.edu	37	chr6	24523088	24523088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaagaagaacctgcgcGtaggtaatggatttgaggaa	13	6	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:24523088G>A	uc003neg.2	+	7	1136	c.1108G>A	c.(1108-1110)GTA>ATA	p.V370I	ALDH5A1_uc003nef.2_Missense_Mutation_p.V383I	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	370					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GAACCTGCGCGTAGGTAATGG	0.408													A	24523088	G	A	24523088	3	1	274	1	0	0	0	0	1	0	0	0	502	1145	40	1	1177	1	ALDH5A1	6	24523088	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	20453962	24523088	146591979	565	139871											
TDP2	51567	broad.mit.edu	37	chr6	24653291	24653291	+	Frame_Shift_Del	DEL	T	T	-													ttgcattttctttaaaaccaTttttaactgattcattcgtt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:24653291delT	uc003nej.2	-	6	752	c.727delA	c.(727-729)ATGfs	p.M243fs	TDP2_uc003nei.2_Frame_Shift_Del_p.M131fs|TDP2_uc010jpu.1_Frame_Shift_Del_p.M243fs	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	243					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						TTTAAAACCATTTTTAACTGA	0.443								Direct_reversal_of_damage|Editing_and_processing_nucleases					-	24653291	T	-	24653291	7	5	274	1	0	1	0	1	0	0	0	0	15726	1493	52	0	369	0	TDP2	6	24653291	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	130203	24653291	146461776	566	139872											
FAM65B	9750	broad.mit.edu	37	chr6	24843458	24843458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggactgtcggcggcaagCctcagatggggccgaggcag	18	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:24843458C>T	uc003neo.1	-	14	1728	c.1552G>A	c.(1552-1554)GCT>ACT	p.A518T	FAM65B_uc011djs.1_Missense_Mutation_p.A497T|FAM65B_uc011dju.1_Missense_Mutation_p.A502T|FAM65B_uc003nep.2_Missense_Mutation_p.A468T|FAM65B_uc011djt.1_Missense_Mutation_p.A468T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	518					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						CGGCGGCAAGCCTCAGATGGG	0.577													T	24843458	C	T	24843458	3	4	274	1	0	0	0	0	1	0	0	0	5600	739	26	2	1704	2	FAM65B	6	24843458	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	190167	24843458	146271609	567	139873											
SLC17A2	10246	broad.mit.edu	37	chr6	25921306	25921306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaatagtaaactgacCtgtccatgccattccctgaa	6	13	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:25921306C>A	uc011dkb.1	-	4	573	c.490G>T	c.(490-492)GGT>TGT	p.G164C	SLC17A2_uc011dkc.1_Missense_Mutation_p.G164C|SLC17A2_uc003nfl.2_Missense_Mutation_p.G164C			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	164					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GTAAACTGACCTGTCCATGCC	0.428													A	25921306	C	A	25921306	3	1	274	1	0	0	0	0	1	0	0	0	14417	681	24	5	848	5	SLC17A2	6	25921306	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1077848	25921306	145193761	568	139874											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27114952	27114952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaagctcgcgccaaggcCaagacccgctcttctcgggc	12	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:27114952C>T	uc003niz.2	+	1	45	c.45C>T	c.(43-45)GCC>GCT	p.A15A	HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	15					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGCCAAGGCCAAGACCCGCT	0.602													T	27114952	C	T	27114952	2	4	274	1	0	0	0	0	0	0	0	1	7134	581	21	4		4	HIST1H2AH	6	27114952	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1193646	27114952	144000115	569	139875											
TCF19	6941	broad.mit.edu	37	chr6	31127381	31127381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgatgtggccctgcgGccccagcaggagcctggcct	15	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:31127381G>A	uc003nss.2	+	2	659	c.135G>A	c.(133-135)CGG>CGA	p.R45R	CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Silent_p.R45R	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	45	FHA.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGGCCCTGCGGCCCCAGCAGG	0.692													A	31127381	G	A	31127381	2	1	274	1	0	0	0	0	0	0	0	1	15686	1190	42	2		2	TCF19	6	31127381	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4012429	31127381	139987686	570	139876											
BAT2	7916	broad.mit.edu	37	chr6	31599862	31599862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcacccaggtccctctcGctcccccaccaccaggagcc	6	23	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:31599862G>A	uc003nvb.3	+	16	3661	c.3412G>A	c.(3412-3414)GCT>ACT	p.A1138T	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.A1138T	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1138	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						GGTCCCTCTCGCTCCCCCACC	0.662													A	31599862	G	A	31599862	3	1	274	1	0	0	0	0	1	0	0	0	1319	1087	38	1	3470	1	BAT2	6	31599862	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	472481	31599862	139515205	571	139877											
BAT5	7920	broad.mit.edu	37	chr6	31668763	31668763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtagcagcaatgtcccaGcatagtgagaaaacggcacc	11	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:31668763G>A	uc003nvy.1	-	4	329	c.299C>T	c.(298-300)GCT>GTT	p.A100V	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.A67V|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.L2L	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	100	Helical; (Potential).					integral to membrane	hydrolase activity|protein binding				0						CAATGTCCCAGCATAGTGAGA	0.512													A	31668763	G	A	31668763	3	1	274	1	0	0	0	0	1	0	0	0	1324	971	34	2	1445	2	BAT5	6	31668763	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	68901	31668763	139446304	572	139878											
FKBPL	63943	broad.mit.edu	37	chr6	32097117	32097117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccctccatggccctacGcccatagttagctctgtcca	6	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32097117G>A	uc003nzr.2	-	2	711	c.441C>T	c.(439-441)GGC>GGT	p.G147G	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	147					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						ATGGCCCTACGCCCATAGTTA	0.577													A	32097117	G	A	32097117	2	1	274	1	0	0	0	0	0	0	0	1	5916	1074	38	1		1	FKBPL	6	32097117	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	428354	32097117	139017950	573	139879											
AGPAT1	10554	broad.mit.edu	37	chr6	32137062	32137062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccagggttcacccaccGcccccaggcttcttcagata	9	16	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32137062G>A	uc003oae.2	-	7	1161	c.843C>T	c.(841-843)GGC>GGT	p.G281G	PPT2_uc003nzy.1_Intron|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.G245G|AGPAT1_uc003oaf.2_Silent_p.G281G|AGPAT1_uc003oag.2_Silent_p.G171G|AGPAT1_uc003oah.2_Silent_p.G281G|AGPAT1_uc003oai.1_Silent_p.G281G|AGPAT1_uc011dpl.1_Silent_p.G169G	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	281					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						TTCACCCACCGCCCCCAGGCT	0.612													A	32137062	G	A	32137062	2	1	274	1	0	0	0	0	0	0	0	1	386	1074	38	1		1	AGPAT1	6	32137062	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	39945	32137062	138978005	574	139880											
GPSM3	63940	broad.mit.edu	37	chr6	32160020	32160020	+	Frame_Shift_Del	DEL	G	G	-													gccagccttcctcatcctgaGgggggccctgatgccaaaat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32160019_32160019AG>A	uc003oay.4	-	1	453	c.51_51CT>T	c.(49-51)cctfs	p.P17fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Frame_Shift_Del_p.P17fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	17	Pro-rich.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCTCATCCTGAGGGGGGCCCT	0.622													-	32160020	G	-	32160020	7	5	274	1	0	1	0	1	0	0	0	0	6736	1000	35	0	444	0	GPSM3	6	32160020	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	22958	32160020	138955047	575	139881											
NOTCH4	4855	broad.mit.edu	37	chr6	32188990	32188990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcacgttcacaggcatgGccctcgaagcccggtgggca	12	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32188990G>A	uc003obb.2	-	4	703	c.564C>T	c.(562-564)GGC>GGT	p.G188G	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.G188G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	188	Extracellular (Potential).|EGF-like 4.				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			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CACAGGCATGGCCCTCGAAGC	0.602													A	32188990	G	A	32188990	2	1	274	1	0	0	0	0	0	0	0	1	10551	1190	42	2		2	NOTCH4	6	32188990	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	28970	32188990	138926077	576	139882											
BRD2	6046	broad.mit.edu	37	chr6	32947641	32947641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagacagccccacctgcCctgcctacaggttatgattc	7	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:32947641C>A	uc003ocn.3	+	11	3579	c.1878C>A	c.(1876-1878)GCC>GCA	p.A626A	BRD2_uc003ocq.3_Silent_p.A626A|BRD2_uc003ocp.3_Silent_p.A506A|BRD2_uc010juh.2_Silent_p.A661A	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	626					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCCACCTGCCCTGCCTACAG	0.512													A	32947641	C	A	32947641	2	1	274	1	0	0	0	0	0	0	0	1	1502	610	22	5		5	BRD2	6	32947641	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	758651	32947641	138167426	577	139883											
ITPR3	3710	broad.mit.edu	37	chr6	33658863	33658863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcattctcgaggtcgaccGgctgcccaacaaccactcca	7	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:33658863G>T	uc011drk.1	+	52	7421	c.7202G>T	c.(7201-7203)CGG>CTG	p.R2401L	ITPR3_uc003oey.2_Missense_Mutation_p.R488L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2401	Extracellular (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GAGGTCGACCGGCTGCCCAAC	0.582													T	33658863	G	T	33658863	3	4	274	1	0	0	0	0	1	0	0	0	7922	1116	39	5	7408	5	ITPR3	6	33658863	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	711222	33658863	137456204	578	139884											
TBC1D22B	55633	broad.mit.edu	37	chr6	37250059	37250059	+	Frame_Shift_Del	DEL	G	G	-													tctcggatcagaacgcttctGgggcccccccaatgactgtc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:37250058_37250058TG>T	uc003onn.3	+	3	665	c.519_519TG>T	c.(517-519)tctfs	p.S173fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	173						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGAACGCTTCTGGGGCCCCCC	0.572													-	37250059	G	-	37250059	7	5	274	1	0	1	0	1	0	0	0	0	15609	1348	47	0	534	0	TBC1D22B	6	37250059	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	3591196	37250059	133865008	579	139885											
GLP1R	2740	broad.mit.edu	37	chr6	39041466	39041466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggctcttggtggagggCgtgtacctgtacacactgct	13	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:39041466C>T	uc003ooj.3	+	7	804	c.744C>T	c.(742-744)GGC>GGT	p.G248G	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	248	Helical; Name=3; (Potential).				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			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TGGTGGAGGGCGTGTACCTGT	0.567													T	39041466	C	T	39041466	2	4	274	1	0	0	0	0	0	0	0	1	6452	755	27	1		1	GLP1R	6	39041466	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1791407	39041466	132073601	580	139886											
MOCS1	4337	broad.mit.edu	37	chr6	39895114	39895114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagatccgcaggtagctgtgCtgccggccgaagctgtctgt	15	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:39895114C>A	uc003opb.2	-	1	342	c.204G>T	c.(202-204)CAG>CAT	p.Q68H	MOCS1_uc003opa.2_Missense_Mutation_p.Q68H|MOCS1_uc003opc.2_Missense_Mutation_p.Q68H|MOCS1_uc003opd.2_Missense_Mutation_p.Q68H|MOCS1_uc003ope.2_Intron	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	68	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGTAGCTGTGCTGCCGGCCGA	0.637													A	39895114	C	A	39895114	3	1	274	1	0	0	0	0	1	0	0	0	9690	796	28	5	989	5	MOCS1	6	39895114	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	853648	39895114	131219953	581	139887											
FRS3	10817	broad.mit.edu	37	chr6	41738915	41738915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaaggccattccagccCggctcctctgggctcagtct	12	15	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:41738915C>T	uc003orc.1	-	7	1165	c.921G>A	c.(919-921)CCG>CCA	p.P307P		NM_006653	NP_006644	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			ovary(2)	2	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)			CATTCCAGCCCGGCTCCTCTG	0.687													T	41738915	C	T	41738915	2	4	274	1	0	0	0	0	0	0	0	1	6062	639	23	1		1	FRS3	6	41738915	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1843801	41738915	129376152	582	139888											
TRERF1	55809	broad.mit.edu	37	chr6	42231075	42231075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgagcacaggcatctcgtCgtccgacatcgagctggctg	12	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:42231075C>T	uc003osd.2	-	8	2430	c.1867G>A	c.(1867-1869)GAC>AAC	p.D623N	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.D623N	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	623	Pro-rich.|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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCATCTCGTCGTCCGACATC	0.662													T	42231075	C	T	42231075	3	4	274	1	0	0	0	0	1	0	0	0	16472	884	31	1	1779	1	TRERF1	6	42231075	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	492160	42231075	128883992	583	139889											
CUL9	23113	broad.mit.edu	37	chr6	43154154	43154154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtgctggggacgagggCgagttccggcagagcaacaa	16	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:43154154C>T	uc003ouk.2	+	4	1287	c.1212C>T	c.(1210-1212)GGC>GGT	p.G404G	CUL9_uc003ouj.1_Silent_p.G404G|CUL9_uc003oul.2_Silent_p.G404G|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	404					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGGACGAGGGCGAGTTCCGGC	0.582													T	43154154	C	T	43154154	2	4	274	1	0	0	0	0	0	0	0	1	4061	755	27	1		1	CUL9	6	43154154	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	923079	43154154	127960913	584	139890											
TDRD6	221400	broad.mit.edu	37	chr6	46660831	46660831	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggaaatgactatttctatGaaataataacagaagatgtg	9	3	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:46660831G>T	uc003oyj.2	+	1	4966	c.4966G>T	c.(4966-4968)GAA>TAA	p.E1656*	TDRD6_uc010jze.2_Nonsense_Mutation_p.E1650*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1656					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTATTTCTATGAAATAATAAC	0.363													T	46660831	G	T	46660831	4	4	274	1	0	0	0	0	0	1	0	0	15731	1291	45	5	4968	5	TDRD6	6	46660831	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3506677	46660831	124454236	585	139891											
TDRD6	221400	broad.mit.edu	37	chr6	46661433	46661433	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactggaatctattgagttAcagaattctctggtggtgga	12	5	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:46661433A>G	uc003oyj.2	+	1	5568	c.5568A>G	c.(5566-5568)TTA>TTG	p.L1856L	TDRD6_uc010jze.2_Silent_p.L1850L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1856					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CTATTGAGTTACAGAATTCTC	0.453													G	46661433	A	G	46661433	2	3	274	1	0	0	0	0	0	0	0	1	15731	388	14	3		3	TDRD6	6	46661433	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	602	46661433	124453634	586	139892											
PKHD1	5314	broad.mit.edu	37	chr6	51930802	51930802	+	Frame_Shift_Del	DEL	A	A	-													gtaacctgggcagaattgtcAaaaaagtctcctgtaattgt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:51930802delA	uc003pah.1	-	12	1128	c.852delT	c.(850-852)TTTfs	p.F284fs	PKHD1_uc003pai.2_Frame_Shift_Del_p.F284fs	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	284	IPT/TIG 3.|Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAGAATTGTCAAAAAAGTCTC	0.358													-	51930802	A	-	51930802	7	5	274	1	0	1	0	1	0	0	0	0	11971	127	5	0	11635	0	PKHD1	6	51930802	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	5269369	51930802	119184265	587	139893											
GFRAL	389400	broad.mit.edu	37	chr6	55196524	55196524	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattcaagctatggggttaAgcttggaaaatgaatacact	9	5	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:55196524A>C	uc003pcm.1	+	2	120	c.34A>C	c.(34-36)AGC>CGC	p.S12R		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	12						integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TATGGGGTTAAGCTTGGAAAA	0.318													C	55196524	A	C	55196524	3	2	274	1	0	0	0	0	1	0	0	0	6351	72	3	5	40	5	GFRAL	6	55196524	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	3265722	55196524	115918543	588	139894											
HMGCLL1	54511	broad.mit.edu	37	chr6	55406891	55406891	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatccatccctaggcccaacTtctactattttaacaaactc	2	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:55406891T>G	uc003pcn.2	-	3	405	c.246A>C	c.(244-246)GAA>GAC	p.E82D	HMGCLL1_uc003pco.2_Missense_Mutation_p.E52D|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52D|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	82							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAGGCCCAACTTCTACTATTT	0.313													G	55406891	T	G	55406891	3	3	274	1	0	0	0	0	1	0	0	0	7230	1606	56	5	898	5	HMGCLL1	6	55406891	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	210367	55406891	115708176	589	139895											
DST	667	broad.mit.edu	37	chr6	56420259	56420259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcctcacagagtgcctggGccacttttatctgcttcttt	7	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:56420259G>A	uc003pdf.2	-	54	8691	c.8663C>T	c.(8662-8664)GCC>GTC	p.A2888V	DST_uc003pcz.3_Missense_Mutation_p.A2710V|DST_uc011dxj.1_Missense_Mutation_p.A2739V|DST_uc011dxk.1_Missense_Mutation_p.A2750V|DST_uc003pcy.3_Missense_Mutation_p.A2384V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4796					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTGCCTGGGCCACTTTTAT	0.438													A	56420259	G	A	56420259	3	1	274	1	0	0	0	0	1	0	0	0	4783	1203	42	2	8540	2	DST	6	56420259	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1013368	56420259	114694808	590	139896											
EYS	346007	broad.mit.edu	37	chr6	66204765	66204765	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgaccagagcaaaattctGaactcagagattcctggcag	9	10	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:66204765G>T	uc011dxu.1	-	4	1077	c.539C>A	c.(538-540)TCA>TAA	p.S180*	EYS_uc003peq.2_Nonsense_Mutation_p.S180*|EYS_uc003per.1_Nonsense_Mutation_p.S180*|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	180	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						GCAAAATTCTGAACTCAGAGA	0.438													T	66204765	G	T	66204765	4	4	274	1	0	0	0	0	0	1	0	0	5332	1294	45	5	9017	5	EYS	6	66204765	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	9784506	66204765	104910302	591	139897											
BAI3	577	broad.mit.edu	37	chr6	70037717	70037717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttttcttgcaggtttaCcagcattagtagtggccaca	9	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:70037717C>A	uc003pev.3	+	22	3419	c.2971C>A	c.(2971-2973)CCA>ACA	p.P991T	BAI3_uc010kak.2_Missense_Mutation_p.P991T|BAI3_uc011dxx.1_Missense_Mutation_p.P197T|BAI3_uc003pex.1_Missense_Mutation_p.P121T	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	991	Helical; Name=4; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGCAGGTTTACCAGCATTAGT	0.393													A	70037717	C	A	70037717	3	1	274	1	0	0	0	0	1	0	0	0	1300	507	18	5	3049	5	BAI3	6	70037717	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3832952	70037717	101077350	592	139898											
COL9A1	1297	broad.mit.edu	37	chr6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-													catcgatgcctggaactccaGgggggcccggaggcccggga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:70991121delG	uc003pfg.3	-	8	1007	c.848delC	c.(847-849)CCTfs	p.P283fs	COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Frame_Shift_Del_p.P40fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						TGGAACTCCAGGGGGGCCCGG	0.592													-	70991121	G	-	70991121	7	5	274	1	0	1	0	1	0	0	0	0	3707	1000	35	0	2041	0	COL9A1	6	70991121	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	953404	70991121	100123946	593	139899											
FAM135A	57579	broad.mit.edu	37	chr6	71235709	71235709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcaaaactgatttgtttAggcactccttgtgtcatttc	6	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:71235709A>G	uc003pfj.2	+	13	3055	c.2922A>G	c.(2920-2922)TTA>TTG	p.L974L	FAM135A_uc003pfi.2_Silent_p.L778L|FAM135A_uc003pfh.2_Silent_p.L761L|FAM135A_uc003pfl.2_Silent_p.L641L|FAM135A_uc003pfn.2_Silent_p.L180L|FAM135A_uc003pfo.1_Silent_p.L345L|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	974										central_nervous_system(1)	1						TGATTTGTTTAGGCACTCCTT	0.328													G	71235709	A	G	71235709	2	3	274	1	0	0	0	0	0	0	0	1	5448	417	15	3		3	FAM135A	6	71235709	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	244588	71235709	99879358	594	139900											
C6orf150	115004	broad.mit.edu	37	chr6	74161472	74161472	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggggccgagaccggcaggcCggggctgggcacgtcccagg	21	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:74161472C>G	uc003pgx.1	-	1	572	c.433G>C	c.(433-435)GGC>CGC	p.G145R		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004	145											0						ACCGGCAGGCCGGGGCTGGGC	0.706													G	74161472	C	G	74161472	3	3	274	1	0	0	0	0	1	0	0	0	2337	652	23	5	1155	5	C6orf150	6	74161472	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2925763	74161472	96953595	595	139901											
SENP6	26054	broad.mit.edu	37	chr6	76412665	76412665	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacagtgtgaaaaaaataAatcatactgcgagtgaaaat	7	4	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:76412665A>C	uc003pid.3	+	19	3212	c.2593A>C	c.(2593-2595)AAT>CAT	p.N865H	SENP6_uc003pie.3_Missense_Mutation_p.N858H|SENP6_uc010kbf.2_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	865	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				GAAAAAAATAAATCATACTGC	0.363													C	76412665	A	C	76412665	3	2	274	1	0	0	0	0	1	0	0	0	14050	14	1	5	2667	5	SENP6	6	76412665	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2251193	76412665	94702402	596	139902											
HTR1B	3351	broad.mit.edu	37	chr6	78172572	78172572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgacgccagaagaagggCggcagcgagatagagatgga	17	8	0	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:78172572C>T	uc003pil.1	-	1	549	c.549G>A	c.(547-549)CCG>CCA	p.P183P		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	183	Helical; Name=4; (By similarity).				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				0		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)	AGAAGAAGGGCGGCAGCGAGA	0.597													T	78172572	C	T	78172572	2	4	274	1	0	0	0	0	0	0	0	1	7437	755	27	1		1	HTR1B	6	78172572	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1759907	78172572	92942495	597	139903											
HMGN3	9324	broad.mit.edu	37	chr6	79918293	79918293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcagaccgtcttgtggGctacaaagggaatgggaaaa	14	7	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:79918293G>A	uc003pit.2	-	3	245	c.67C>T	c.(67-69)CCC>TCC	p.P23S	HMGN3_uc003pis.2_Missense_Mutation_p.P23S|HMGN3_uc003piu.1_Missense_Mutation_p.P23S	NM_004242	NP_004233	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	23					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding				0		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)		CGTCTTGTGGGCTACAAAGGG	0.353													A	79918293	G	A	79918293	3	1	274	1	0	0	0	0	1	0	0	0	7236	1217	42	2	248	2	HMGN3	6	79918293	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1745721	79918293	91196774	598	139904											
KIAA1009	22832	broad.mit.edu	37	chr6	84896233	84896234	+	Frame_Shift_Ins	INS	-	-	A													cattctcatcatttttgtcaINSaaaaaaaggttcacatgttg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:84896232_84896233C>CA	uc010kbp.3	-	11	1315_1316	c.1218_1219G>TG	c.(1216-1221)tttgacfs	p.F406fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.F330fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.F406fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	406					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)		TCATTTTTGTCAAAAAAAAGGT	0.356													A	84896234	-	A	84896233	7	5	274	1	0	1	1	0	0	0	0	0	8203	127	5	0	3057	0	KIAA1009	6	84896233	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	4977940	84896233	86218834	599	139905											
MDN1	23195	broad.mit.edu	37	chr6	90377778	90377778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacatccttcatgccctcGccttctccaattccacctcc	2	21	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90377778G>A	uc003pnn.1	-	84	14165	c.14049C>T	c.(14047-14049)GGC>GGT	p.G4683G		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4683					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		TCATGCCCTCGCCTTCTCCAA	0.438													A	90377778	G	A	90377778	2	1	274	1	0	0	0	0	0	0	0	1	9415	1074	38	1		1	MDN1	6	90377778	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5481545	90377778	80737289	600	139906											
MDN1	23195	broad.mit.edu	37	chr6	90428516	90428516	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagcagctcagtagtAtccattgcactgttcatagc	7	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90428516A>T	uc003pnn.1	-	42	6407	c.6291T>A	c.(6289-6291)GAT>GAA	p.D2097E		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2097					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		GCTCAGTAGTATCCATTGCAC	0.507													T	90428516	A	T	90428516	3	4	274	1	0	0	0	0	1	0	0	0	9415	446	16	5	10743	5	MDN1	6	90428516	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	50738	90428516	80686551	601	139907											
MDN1	23195	broad.mit.edu	37	chr6	90450058	90450058	+	Frame_Shift_Del	DEL	T	T	-													tccttgtcctctggactgccTttttcagctaataccagaga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90450057_90450057CT>C	uc003pnn.1	-	31	4605	c.4489_4489AG>G	c.(4489-4491)ggcfs	p.G1497fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1497					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)		TCTGGACTGCCTTTTTCAGCT	0.378													-	90450058	T	-	90450058	7	5	274	1	0	1	0	1	0	0	0	0	9415	1606	56	0	12586	0	MDN1	6	90450058	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	21542	90450058	80665009	602	139908											
BACH2	60468	broad.mit.edu	37	chr6	90642334	90642334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtccggggggagccgcGcctggctccaagcagcaggg	21	12	0	0	rs150771521	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:90642334G>A	uc011eab.1	-	9	3128	c.2319C>T	c.(2317-2319)GGC>GGT	p.G773G	BACH2_uc003pnw.2_Silent_p.G773G	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	773						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		GGGGAGCCGCGCCTGGCTCCA	0.637													A	90642334	G	A	90642334	2	1	274	1	0	0	0	0	0	0	0	1	1284	1074	38	1		1	BACH2	6	90642334	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	192276	90642334	80472733	603	139909											
KIAA0776	23376	broad.mit.edu	37	chr6	96996089	96996089	+	Frame_Shift_Del	DEL	T	T	-													ttccaggatgagattgaagaTtttttaagaaaacacataca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:96996089delT	uc003por.2	+	13	1500	c.1452delT	c.(1450-1452)GATfs	p.D484fs	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	484					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		AGATTGAAGATTTTTTAAGAA	0.313													-	96996089	T	-	96996089	7	5	274	1	0	1	0	1	0	0	0	0	8193	1490	52	0	1502	0	KIAA0776	6	96996089	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	6353755	96996089	74118978	604	139910											
LACE1	246269	broad.mit.edu	37	chr6	108723201	108723201	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatcatttttttctttcagaTctctataaaaatggactcca	3	8	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:108723201T>A	uc003psj.2	+	7	936	c.750T>A	c.(748-750)GAT>GAA	p.D250E		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	250							ATP binding			central_nervous_system(1)	1		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)		TTCTTTCAGATCTCTATAAAA	0.279													A	108723201	T	A	108723201	3	1	274	1	0	0	0	0	1	0	0	0	8595	1449	50	5	776	5	LACE1	6	108723201	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	11727112	108723201	62391866	605	139911											
CDC40	51362	broad.mit.edu	37	chr6	110550119	110550119	+	Frame_Shift_Del	DEL	T	T	-													tagattaaataagaaaaaaaTttttaagggccatatggtag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:110550119delT	uc003pua.2	+	14	1526	c.1502delT	c.(1501-1503)ATTfs	p.I501fs		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	501					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		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)		AAGAAAAAAATTTTTAAGGGC	0.333													-	110550119	T	-	110550119	7	5	274	1	0	1	0	1	0	0	0	0	3070	1493	52	0	1556	0	CDC40	6	110550119	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	1826918	110550119	60564948	606	139912											
LAMA4	3910	broad.mit.edu	37	chr6	112462098	112462098	+	Frame_Shift_Del	DEL	A	A	-													tacttagactcgggactgttAaaaacacctttccatgtttt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:112462097_112462097TA>T	uc003pvu.2	-	21	3150	c.2841_2841TA>A	c.(2839-2841)ttafs	p.L947fs	LAMA4_uc003pvv.2_Frame_Shift_Del_p.L940fs|LAMA4_uc003pvt.2_Frame_Shift_Del_p.L940fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	947	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)		TCGGGACTGTTAAAAACACCT	0.363													-	112462098	A	-	112462098	7	5	274	1	0	1	0	1	0	0	0	0	8608	372	13	0	2703	0	LAMA4	6	112462098	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	1911979	112462098	58652969	607	139913											
MARCKS	4082	broad.mit.edu	37	chr6	114181338	114181338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgaaggcggcaaggaCgaggccgccgggggcgcagc	20	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:114181338C>T	uc003pvy.3	+	2	977	c.582C>T	c.(580-582)GAC>GAT	p.D194D		NM_002356	NP_002347	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C	194					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding				0		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		gcggcaaggacgaggccgccg	0.254													T	114181338	C	T	114181338	2	4	274	1	0	0	0	0	0	0	0	1	9309	535	19	1		1	MARCKS	6	114181338	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1719240	114181338	56933729	608	139914											
TAAR5	9038	broad.mit.edu	37	chr6	132910413	132910413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagggatagagcagggggTcacagatggcacagtggcgg	20	6	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:132910413T>G	uc003qdk.2	-	1	465	c.413A>C	c.(412-414)GAC>GCC	p.D138A		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	138	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GAGCAGGGGGTCACAGATGGC	0.562													G	132910413	T	G	132910413	3	3	274	1	0	0	0	0	1	0	0	0	15488	1667	58	5	604	5	TAAR5	6	132910413	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	18729075	132910413	38204654	609	139915											
TAAR5	9038	broad.mit.edu	37	chr6	132910785	132910785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctggtagcagaatgccGcagggtgctcttcagcacct	11	13	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:132910785G>A	uc003qdk.2	-	1	93	c.41C>T	c.(40-42)GCG>GTG	p.A14V		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	14	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCAGAATGCCGCAGGGTGCTC	0.522													A	132910785	G	A	132910785	3	1	274	1	0	0	0	0	1	0	0	0	15488	1087	38	1	976	1	TAAR5	6	132910785	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	372	132910785	38204282	610	139916											
MYB	4602	broad.mit.edu	37	chr6	135518338	135518338	+	Frame_Shift_Del	DEL	A	A	-													attccactggtcatccttcgAaaaaaacggggccaggccag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:135518337_135518337GA>G	uc003qfh.3	+	9	1641	c.1442_1442GA>G	c.(1441-1443)cgafs	p.R481fs	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Frame_Shift_Del_p.R478fs|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Frame_Shift_Del_p.R465fs|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCATCCTTCGAAAAAAACGG	0.522			T	NFIB	adenoid cystic carcinoma								-	135518338	A	-	135518338	7	5	274	1	0	1	0	1	0	0	0	0	10007	233	9	0	1481	0	MYB	6	135518338	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	2607553	135518338	35596729	611	139917											
UTRN	7402	broad.mit.edu	37	chr6	144759958	144759958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaacactcacagaggagcGcattcagaagatggaaactt	10	8	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:144759958G>A	uc003qkt.2	+	11	1411	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	UTRN_uc010khq.1_Missense_Mutation_p.R440H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	440	Interaction with SYNM.|Spectrin 3.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACAGAGGAGCGCATTCAGAAG	0.463													A	144759958	G	A	144759958	3	1	274	1	0	0	0	0	1	0	0	0	17100	1087	38	1	1361	1	UTRN	6	144759958	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	9241620	144759958	26355109	612	139918											
UTRN	7402	broad.mit.edu	37	chr6	145156929	145156929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctagggaagacgagcacGccctcatccagcagtattgc	11	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:145156929G>A	uc003qkt.2	+	69	9771	c.9679G>A	c.(9679-9681)GCC>ACC	p.A3227T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3227					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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGACGAGCACGCCCTCATCCA	0.512													A	145156929	G	A	145156929	3	1	274	1	0	0	0	0	1	0	0	0	17100	1087	38	1	9953	1	UTRN	6	145156929	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	396971	145156929	25958138	613	139919											
GRM1	2911	broad.mit.edu	37	chr6	146720510	146720510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagacccgcaacgtgcccGccaacttcaacgaggccaaa	8	16	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:146720510G>A	uc010khw.1	+	8	2805	c.2335G>A	c.(2335-2337)GCC>ACC	p.A779T	GRM1_uc010khv.1_Missense_Mutation_p.A779T|GRM1_uc003qll.2_Missense_Mutation_p.A779T|GRM1_uc011edz.1_Missense_Mutation_p.A779T|GRM1_uc011eea.1_Missense_Mutation_p.A779T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	779	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAACGTGCCCGCCAACTTCAA	0.507													A	146720510	G	A	146720510	3	1	274	1	0	0	0	0	1	0	0	0	6796	1087	38	1	2361	1	GRM1	6	146720510	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1563581	146720510	24394557	614	139920											
SYNE1	23345	broad.mit.edu	37	chr6	152644683	152644683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccaggggttggggcggCtccatcctggagcatgctca	14	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:152644683C>T	uc010kiw.2	-	82	16449	c.15847G>A	c.(15847-15849)GCC>ACC	p.A5283T	SYNE1_uc003qot.3_Missense_Mutation_p.A5212T|SYNE1_uc003qou.3_Missense_Mutation_p.A5283T|SYNE1_uc010kiz.2_Missense_Mutation_p.A1038T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5283	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGGGGCGGCTCCATCCTGG	0.552										HNSCC(10;0.0054)			T	152644683	C	T	152644683	3	4	274	1	0	0	0	0	1	0	0	0	15442	797	28	2	10879	2	SYNE1	6	152644683	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5924173	152644683	18470384	615	139921											
SYNE1	23345	broad.mit.edu	37	chr6	152646295	152646295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggccacagctcgaaggCgtgtccagcgctgccagacg	14	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:152646295C>T	uc010kiw.2	-	81	16183	c.15581G>A	c.(15580-15582)CGC>CAC	p.R5194H	SYNE1_uc003qot.3_Missense_Mutation_p.R5123H|SYNE1_uc003qou.3_Missense_Mutation_p.R5194H|SYNE1_uc010kiz.2_Missense_Mutation_p.R949H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5194	Spectrin 16.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCGAAGGCGTGTCCAGCG	0.552										HNSCC(10;0.0054)			T	152646295	C	T	152646295	3	4	274	1	0	0	0	0	1	0	0	0	15442	768	27	1	11149	1	SYNE1	6	152646295	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1612	152646295	18468772	616	139922											
TFB1M	51106	broad.mit.edu	37	chr6	155606374	155606374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgagccataacagagaggCgactacgctgtttgcttcct	10	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:155606374C>T	uc003qqj.3	-	5	648	c.584G>A	c.(583-585)CGC>CAC	p.R195H	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AACAGAGAGGCGACTACGCTG	0.413													T	155606374	C	T	155606374	3	4	274	1	0	0	0	0	1	0	0	0	15790	768	27	1	468	1	TFB1M	6	155606374	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2960079	155606374	15508693	617	139923											
RSPH3	83861	broad.mit.edu	37	chr6	159401964	159401964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactgctgtttcttacgcCgttcctgccaagaacgacag	8	15	1	1	rs149769974		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:159401964C>T	uc003qrx.2	-	6	1317	c.1127G>A	c.(1126-1128)CGG>CAG	p.R376Q	RSPH3_uc010kju.2_Missense_Mutation_p.R280Q	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	376	Potential.									ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTTCTTACGCCGTTCCTGCCA	0.468													T	159401964	C	T	159401964	3	4	274	1	0	0	0	0	1	0	0	0	13705	652	23	1	567	1	RSPH3	6	159401964	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3795590	159401964	11713103	618	139924											
PDE10A	10846	broad.mit.edu	37	chr6	165806196	165806196	+	Frame_Shift_Del	DEL	G	G	-													catacatgcagtgtgctacaGtgaccgcatgcttccagttg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:165806196delG	uc003qun.2	-	17	1806	c.1565delC	c.(1564-1566)ACTfs	p.T522fs	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Frame_Shift_Del_p.T452fs|PDE10A_uc003quo.2_Frame_Shift_Del_p.T532fs	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	522					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		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)	GTGTGCTACAGTGACCGCATG	0.448													-	165806196	G	-	165806196	7	5	274	1	0	1	0	1	0	0	0	0	11630	1029	36	0	802	0	PDE10A	6	165806196	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	6404232	165806196	5308871	619	139925											
MLLT4	4301	broad.mit.edu	37	chr6	168273011	168273011	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagaaaaagaggcattgCgacaggcatctgataaagat	12	5	1	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:168273011C>T	uc003qwd.2	+	4	671	c.529C>T	c.(529-531)CGA>TGA	p.R177*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.R177*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.R178*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	178	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		agagGCATTGCGACAGGCATC	0.338			T	MLL	AL								T	168273011	C	T	168273011	4	4	274	1	0	0	0	0	0	1	0	0	9629	760	27	1	546	1	MLLT4	6	168273011	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2466815	168273011	2842056	620	139926											
DLL1	28514	broad.mit.edu	37	chr6	170592753	170592753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggaatggcccgccctgGccctctagcttctcagtgag	13	14	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr6:170592753G>A	uc003qxm.2	-	9	2084	c.1614C>T	c.(1612-1614)GGC>GGT	p.G538G		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	538	Extracellular (Potential).				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			lung(4)|ovary(1)	5		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)		GCCCGCCCTGGCCCTCTAGCT	0.701													A	170592753	G	A	170592753	2	1	274	1	0	0	0	0	0	0	0	1	4566	1190	42	2		2	DLL1	6	170592753	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2319742	170592753	522314	621	139927											
UNCX	340260	broad.mit.edu	37	chr7	1275539	1275539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcccggggcggccggcGcacaactcgcacccgaccac	14	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:1275539G>A	uc011jvw.1	+	3	522	c.522G>A	c.(520-522)GCG>GCA	p.A174A		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	174					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGCGGCCGGCGCACAACTCGC	0.642													A	1275539	G	A	1275539	2	1	274	1	0	0	0	0	0	0	0	1	16995	1074	38	1		1	UNCX	7	1275539	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		1275539	157863124	622	139928											
INTS1	26173	broad.mit.edu	37	chr7	1539932	1539932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacggccccgcacagcacGccctcgatcctgtcatcgtt	8	18	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:1539932G>A	uc003skn.2	-	4	521	c.420C>T	c.(418-420)GGC>GGT	p.G140G	INTS1_uc003skq.2_Silent_p.G140G	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	140					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCACAGCACGCCCTCGATCC	0.652													A	1539932	G	A	1539932	2	1	274	1	0	0	0	0	0	0	0	1	7775	1074	38	1		1	INTS1	7	1539932	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	264393	1539932	157598731	623	139929											
AMZ1	155185	broad.mit.edu	37	chr7	2740115	2740115	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtagacccgcacaggagttCagcttcgggccccgggcctt	13	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:2740115C>T	uc003smr.1	+	2	391	c.30C>T	c.(28-30)TTC>TTT	p.F10F	AMZ1_uc003sms.1_Silent_p.F10F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	10							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CACAGGAGTTCAGCTTCGGGC	0.692													T	2740115	C	T	2740115	2	4	274	1	0	0	0	0	0	0	0	1	596	825	29	4		4	AMZ1	7	2740115	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1200183	2740115	156398548	624	139930											
ACTB	60	broad.mit.edu	37	chr7	5569018	5569018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaatccttctgacccatgCccaccatcacgccctgggaa	8	16	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:5569018C>A	uc003sos.3	-	2	173	c.137G>T	c.(136-138)GGC>GTC	p.G46V	ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.G46V|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	46					'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				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTGACCCATGCCCACCATCAC	0.627													A	5569018	C	A	5569018	3	1	274	1	0	0	0	0	1	0	0	0	193	739	26	5	1006	5	ACTB	7	5569018	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2828903	5569018	153569645	625	139931											
PMS2	5395	broad.mit.edu	37	chr7	6027157	6027158	+	Frame_Shift_Ins	INS	-	-	T													gtctggaaatggacacgtctINStttttttcttctccagtcct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:6027156_6027157C>CT	uc003spl.3	-	10	1326_1327	c.1239_1240G>AG	c.(1237-1242)aaagacfs	p.K413fs	PMS2_uc003spj.3_Frame_Shift_Ins_p.K307fs|PMS2_uc003spk.3_Frame_Shift_Ins_p.K278fs|PMS2_uc011jwl.2_Frame_Shift_Ins_p.K278fs|PMS2_uc010ktg.3_Frame_Shift_Ins_p.K102fs|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Frame_Shift_Ins_p.K413fs	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	413					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	p.D414fs*34(2)		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)		ATGGACACGTCTTTTTTTTCTT	0.455			"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				T	6027158	-	T	6027157	7	5	274	1	0	1	1	0	0	0	0	0	12143	1606	56	0	1369	0	PMS2	7	6027157	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	458139	6027157	153111506	626	139932											
C7orf26	79034	broad.mit.edu	37	chr7	6639900	6639900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaactgaaccccctcaacGcctcccaggagattgagctc	8	15	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:6639900G>A	uc003sqo.1	+	4	1021	c.1021G>A	c.(1021-1023)GCC>ACC	p.A341T	C7orf26_uc003sqp.1_Missense_Mutation_p.A244T|C7orf26_uc003sqq.1_Missense_Mutation_p.A142T	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	341										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CCCCCTCAACGCCTCCCAGGA	0.627													A	6639900	G	A	6639900	3	1	274	1	0	0	0	0	1	0	0	0	2381	1087	38	1	1035	1	C7orf26	7	6639900	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	612743	6639900	152498763	627	139933											
THSD7A	221981	broad.mit.edu	37	chr7	11514158	11514158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcattacagcttcgtacTtcttgcaaagcactgctatt	6	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:11514158T>G	uc003ssf.3	-	8	2307	c.2055A>C	c.(2053-2055)GAA>GAC	p.E685D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	685	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGCTTCGTACTTCTTGCAAAG	0.468										HNSCC(18;0.044)			G	11514158	T	G	11514158	3	3	274	1	0	0	0	0	1	0	0	0	15876	1606	56	5	2998	5	THSD7A	7	11514158	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	4874258	11514158	147624505	628	139934											
DGKB	1607	broad.mit.edu	37	chr7	14722438	14722438	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagggaggtgctcgagccacAcagcgctcatggactgtgta	15	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:14722438A>G	uc003ssz.2	-	10	1045	c.858T>C	c.(856-858)TGT>TGC	p.C286C	DGKB_uc011jxt.1_Silent_p.C279C|DGKB_uc003sta.2_Silent_p.C286C|DGKB_uc011jxu.1_Silent_p.C286C	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	286	Phorbol-ester/DAG-type 1.				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			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	CTCGAGCCACACAGCGCTCAT	0.448													G	14722438	A	G	14722438	2	3	274	1	0	0	0	0	0	0	0	1	4466	157	6	3		3	DGKB	7	14722438	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	3208280	14722438	144416225	629	139935											
ABCB5	340273	broad.mit.edu	37	chr7	20778637	20778637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgcatatggagctatgGccatcggagaaacgctcgtt	11	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:20778637G>A	uc003suw.3	+	15	2110	c.1564G>A	c.(1564-1566)GCC>ACC	p.A522T	ABCB5_uc010kuh.2_Missense_Mutation_p.A967T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TGGAGCTATGGCCATCGGAGA	0.403													A	20778637	G	A	20778637	3	1	274	1	0	0	0	0	1	0	0	0	44	1203	42	2	3030	2	ABCB5	7	20778637	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6056199	20778637	138360026	630	139936											
ABCB5	340273	broad.mit.edu	37	chr7	20778696	20778696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaaatcgggggctgcGcatctgtttgccttgttgga	13	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:20778696G>A	uc003suw.3	+	15	2169	c.1623G>A	c.(1621-1623)GCG>GCA	p.A541A	ABCB5_uc010kuh.2_Silent_p.A986A	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	541	Cytoplasmic (Potential).				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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CGGGGGCTGCGCATCTGTTTG	0.428													A	20778696	G	A	20778696	2	1	274	1	0	0	0	0	0	0	0	1	44	1074	38	1		1	ABCB5	7	20778696	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	59	20778696	138359967	631	139937											
DNAH11	8701	broad.mit.edu	37	chr7	21628211	21628211	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccagcaggttctccaaCgacttcaaatgttttggtca	10	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:21628211C>T	uc003svc.2	+	11	1961	c.1930C>T	c.(1930-1932)CGA>TGA	p.R644*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	644	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GGTTCTCCAACGACTTCAAAT	0.393									Kartagener_syndrome				T	21628211	C	T	21628211	4	4	274	1	0	0	0	0	0	1	0	0	4599	528	19	1	1972	1	DNAH11	7	21628211	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	849515	21628211	137510452	632	139938											
HOXA7	3204	broad.mit.edu	37	chr7	27194754	27194754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaatgcggcggcgccgcGtcaggtagcggttgaagtgg	17	9	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:27194754G>A	uc003sys.2	-	2	599	c.467C>T	c.(466-468)ACG>ATG	p.T156M	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	156	Homeobox.				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				0						GCGGCGCCGCGTCAGGTAGCG	0.602													A	27194754	G	A	27194754	3	1	274	1	0	0	0	0	1	0	0	0	7297	1145	40	1	229	1	HOXA7	7	27194754	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5566543	27194754	131943909	633	139939											
HIBADH	11112	broad.mit.edu	37	chr7	27570865	27570865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttattagccgagggaacGccatccatcactccaggtac	9	12	1	0	rs145731776	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:27570865G>A	uc003szf.2	-	7	993	c.798C>T	c.(796-798)GGC>GGT	p.G266G	HIBADH_uc003szg.2_Silent_p.G217G|HIBADH_uc003szh.2_Silent_p.G165G	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	266					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(2)	2			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CCGAGGGAACGCCATCCATCA	0.448													A	27570865	G	A	27570865	2	1	274	1	0	0	0	0	0	0	0	1	7099	1074	38	1		1	HIBADH	7	27570865	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	376111	27570865	131567798	634	139940											
NOD1	10392	broad.mit.edu	37	chr7	30491130	30491130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgacctgaacgcggggcaGgctcttcaggtagccccgca	13	14	2	1	rs146485628		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:30491130G>T	uc003tav.2	-	6	2426	c.1903C>A	c.(1903-1905)CTG>ATG	p.L635M		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	635	LRR 1.				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			ovary(1)|skin(1)	2						ACGCGGGGCAGGCTCTTCAGG	0.627													T	30491130	G	T	30491130	3	4	274	1	0	0	0	0	1	0	0	0	10516	991	35	5	994	5	NOD1	7	30491130	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2920265	30491130	128647533	635	139941											
KBTBD2	25948	broad.mit.edu	37	chr7	32909192	32909192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaggtgacgtatttagctCgctcatttaagtgggtttct	12	6	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:32909192C>T	uc003tdb.2	-	4	2296	c.1637G>A	c.(1636-1638)CGA>CAA	p.R546Q	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	546	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			GTATTTAGCTCGCTCATTTAA	0.468													T	32909192	C	T	32909192	3	4	274	1	0	0	0	0	1	0	0	0	7993	884	31	1	238	1	KBTBD2	7	32909192	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2418062	32909192	126229471	636	139942											
EEPD1	80820	broad.mit.edu	37	chr7	36336702	36336702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccacctgatccccgcGcacaccttcaccaacatcag	4	20	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:36336702G>A	uc003tfa.2	+	7	2056	c.1416G>A	c.(1414-1416)GCG>GCA	p.A472A		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	472					DNA repair		DNA binding				0						TGATCCCCGCGCACACCTTCA	0.473													A	36336702	G	A	36336702	2	1	274	1	0	0	0	0	0	0	0	1	4932	1074	38	1		1	EEPD1	7	36336702	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3427510	36336702	122801961	637	139943											
EEPD1	80820	broad.mit.edu	37	chr7	36338750	36338750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactggagcaagaaggatGcccctcggaacggcagcggg	17	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:36338750G>A	uc003tfa.2	+	8	2285	c.1645G>A	c.(1645-1647)GCC>ACC	p.A549T		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	549					DNA repair		DNA binding				0						CAAGAAGGATGCCCCTCGGAA	0.582													A	36338750	G	A	36338750	3	1	274	1	0	0	0	0	1	0	0	0	4932	1319	46	2	1671	2	EEPD1	7	36338750	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2048	36338750	122799913	638	139944											
GPR141	353345	broad.mit.edu	37	chr7	37780105	37780105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgggctggtgggtgtcatttCcattcttttcctcctggtga	12	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:37780105C>A	uc003tfm.1	+	1	110	c.110C>A	c.(109-111)TCC>TAC	p.S37Y	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	37	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						GGTGTCATTTCCATTCTTTTC	0.498													A	37780105	C	A	37780105	3	1	274	1	0	0	0	0	1	0	0	0	6649	855	30	5	112	5	GPR141	7	37780105	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1441355	37780105	121358558	639	139945											
STARD3NL	83930	broad.mit.edu	37	chr7	38254699	38254699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagactgcgccattggtgggCaatagcggtgagtatgccct	14	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:38254699C>T	uc003tfr.2	+	4	522	c.374C>T	c.(373-375)GCA>GTA	p.A125V	STARD3NL_uc003tfs.2_Missense_Mutation_p.A125V|STARD3NL_uc003tft.2_Missense_Mutation_p.A125V	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	125	MENTAL.|Helical; (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						CATTGGTGGGCAATAGCGGTG	0.478													T	38254699	C	T	38254699	3	4	274	1	0	0	0	0	1	0	0	0	15257	710	25	2	384	2	STARD3NL	7	38254699	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	474594	38254699	120883964	640	139946											
VPS41	27072	broad.mit.edu	37	chr7	38908811	38908811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagttaccccattggaaaGcctttcatacttcagcttgg	7	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:38908811G>T	uc003tgy.2	-	3	129	c.103C>A	c.(103-105)CTT>ATT	p.L35I	VPS41_uc003tgz.2_Missense_Mutation_p.L35I|VPS41_uc010kxn.2_Missense_Mutation_p.L35I	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	35					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						CCATTGGAAAGCCTTTCATAC	0.418													T	38908811	G	T	38908811	3	4	274	1	0	0	0	0	1	0	0	0	17207	971	34	5	2569	5	VPS41	7	38908811	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	654112	38908811	120229852	641	139947											
POU6F2	11281	broad.mit.edu	37	chr7	39503921	39503921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcacccctaaaagtgCccagaagatcaagccggtgc	10	13	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:39503921C>T	uc003thb.1	+	10	1754	c.1712C>T	c.(1711-1713)GCC>GTC	p.A571V		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	571	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			central_nervous_system(1)	1						CCTAAAAGTGCCCAGAAGATC	0.542													T	39503921	C	T	39503921	3	4	274	1	0	0	0	0	1	0	0	0	12285	739	26	2	1750	2	POU6F2	7	39503921	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	595110	39503921	119634742	642	139948											
C7orf25	79020	broad.mit.edu	37	chr7	42950258	42950258	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactaacaacttcttccaggTtttctgctgattccacaatg	5	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:42950258T>G	uc003thw.2	-	2	706	c.242A>C	c.(241-243)AAC>ACC	p.N81T	C7orf25_uc010kxq.2_Missense_Mutation_p.N81T|C7orf25_uc003thx.3_Missense_Mutation_p.N139T|C7orf25_uc010kxr.2_Missense_Mutation_p.N139T	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	81										skin(1)	1						TTCTTCCAGGTTTTCTGCTGA	0.403													G	42950258	T	G	42950258	3	3	274	1	0	0	0	0	1	0	0	0	2380	1725	60	5	1027	5	C7orf25	7	42950258	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3446337	42950258	116188405	643	139949											
MRPL32	64983	broad.mit.edu	37	chr7	42972066	42972066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaactactgggagcgactGctacggaagcttccgcagag	13	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:42972066G>A	uc003tia.2	+	1	128	c.81G>A	c.(79-81)CTG>CTA	p.L27L	C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32 precursor	27				SPWSAARGVLRNYWERLLRKLPQSRPGFPSPPW -> RRGL RPGECFETTGSDCYGSFRRAGRAFPVLRGV (in Ref. 3).	translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome				0						GGGAGCGACTGCTACGGAAGC	0.652													A	42972066	G	A	42972066	2	1	274	1	0	0	0	0	0	0	0	1	9795	1306	46	2		2	MRPL32	7	42972066	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	21808	42972066	116166597	644	139950											
HECW1	23072	broad.mit.edu	37	chr7	43351499	43351499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacatggacctcaggggCggcccccacgatggcgtcac	12	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:43351499C>T	uc003tid.1	+	4	770	c.165C>T	c.(163-165)GGC>GGT	p.G55G	HECW1_uc011kbi.1_Silent_p.G55G|HECW1_uc003tie.1_Silent_p.G87G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	55					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						ACCTCAGGGGCGGCCCCCACG	0.627													T	43351499	C	T	43351499	2	4	274	1	0	0	0	0	0	0	0	1	7042	755	27	1		1	HECW1	7	43351499	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	379433	43351499	115787164	645	139951											
AEBP1	165	broad.mit.edu	37	chr7	44150328	44150328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtccactccacagtgacGattttgtgaccaccttcttc	6	14	1	2	rs150909656	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:44150328G>A	uc003tkb.2	+	12	1710	c.1405G>A	c.(1405-1407)GAT>AAT	p.D469N	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	469	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (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				0						CCACAGTGACGATTTTGTGAC	0.572													A	44150328	G	A	44150328	3	1	274	1	0	0	0	0	1	0	0	0	349	1058	37	1	1451	1	AEBP1	7	44150328	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	798829	44150328	114988335	646	139952											
NPC1L1	29881	broad.mit.edu	37	chr7	44556414	44556414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttgaggaggccggagCgcaggtccaggcccagcagg	19	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:44556414C>T	uc003tlb.2	-	17	3544	c.3488G>A	c.(3487-3489)CGC>CAC	p.R1163H	NPC1L1_uc003tlc.2_Missense_Mutation_p.R1136H|NPC1L1_uc011kbw.1_Missense_Mutation_p.R1090H|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1163	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GAGGCCGGAGCGCAGGTCCAG	0.607													T	44556414	C	T	44556414	3	4	274	1	0	0	0	0	1	0	0	0	10571	768	27	1	607	1	NPC1L1	7	44556414	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	406086	44556414	114582249	647	139953											
ZMIZ2	83637	broad.mit.edu	37	chr7	44799789	44799789	+	Frame_Shift_Del	DEL	G	G	-													ggcagggcgccagcttcaacGggggcagcgtcagctacagc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:44799789delG	uc003tlr.2	+	8	1156	c.1033delG	c.(1033-1035)GGGfs	p.G345fs	ZMIZ2_uc003tlq.2_Intron|ZMIZ2_uc003tls.2_Intron|ZMIZ2_uc003tlt.2_5'UTR|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	345	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CAGCTTCAACGGGGGCAGCGT	0.687													-	44799789	G	-	44799789	7	5	274	1	0	1	0	1	0	0	0	0	17694	1116	39	0	1059	0	ZMIZ2	7	44799789	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	243375	44799789	114338874	648	139954											
CCM2	83605	broad.mit.edu	37	chr7	45113138	45113138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcgagctgagcgccagcGccactgagctgctgcaggac	15	13	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:45113138G>A	uc003tmo.2	+	8	1029	c.883G>A	c.(883-885)GCC>ACC	p.A295T	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.A237T|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.A204T|CCM2_uc003tms.2_Missense_Mutation_p.A316T	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	295					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						GAGCGCCAGCGCCACTGAGCT	0.622									Familial_Cerebral_Cavernous_Angioma				A	45113138	G	A	45113138	3	1	274	1	0	0	0	0	1	0	0	0	2908	1087	38	1	1010	1	CCM2	7	45113138	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	313349	45113138	114025525	649	139955											
IGFBP3	3486	broad.mit.edu	37	chr7	45954540	45954540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctgcctttggaagggCgacactgtgggagagaaaca	14	9	0	1	rs17847676		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:45954540C>T	uc003tns.2	-	4	887	c.755G>A	c.(754-756)CGC>CAC	p.R252H	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.R258H|IGFBP3_uc003tnt.2_Missense_Mutation_p.R155H	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	252	Thyroglobulin type-1.		R -> C (in a colorectal cancer sample; somatic mutation).		negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.R252C(1)		large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	TTTGGAAGGGCGACACTGTGG	0.592													T	45954540	C	T	45954540	3	4	274	1	0	0	0	0	1	0	0	0	7580	768	27	1	124	1	IGFBP3	7	45954540	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	841402	45954540	113184123	650	139956											
TNS3	64759	broad.mit.edu	37	chr7	47344501	47344501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcctgctgaaaggagggCgtcgaggacgcatcagcccg	15	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:47344501C>T	uc003tnv.2	-	21	3118	c.2751G>A	c.(2749-2751)ACG>ACA	p.T917T	TNS3_uc003tnw.2_Silent_p.T917T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	917				T -> A (in Ref. 4; CAH18438).		focal adhesion	protein binding			ovary(4)	4						GAAAGGAGGGCGTCGAGGACG	0.572													T	47344501	C	T	47344501	2	4	274	1	0	0	0	0	0	0	0	1	16341	755	27	1		1	TNS3	7	47344501	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1389961	47344501	111794162	651	139957											
ABCA13	154664	broad.mit.edu	37	chr7	48280634	48280634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcttgtcagcagatggCccaaaagataatcatacatt	8	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:48280634C>T	uc003toq.2	+	10	1258	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	411					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAGCAGATGGCCCAAAAGATA	0.438													T	48280634	C	T	48280634	2	4	274	1	0	0	0	0	0	0	0	1	31	726	26	2		2	ABCA13	7	48280634	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	936133	48280634	110858029	652	139958											
POM121L12	285877	broad.mit.edu	37	chr7	53104180	53104180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttctgggaggcgacaacGccttcctgcggcagctgcag	14	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:53104180G>A	uc003tpz.2	+	1	832	c.816G>A	c.(814-816)ACG>ACA	p.T272T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	272											0						AGGCGACAACGCCTTCCTGCG	0.637													A	53104180	G	A	53104180	2	1	274	1	0	0	0	0	0	0	0	1	12241	1074	38	1		1	POM121L12	7	53104180	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4823546	53104180	106034483	653	139959											
ZNF680	340252	broad.mit.edu	37	chr7	63982401	63982401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattggttaaaggctttgCcacattcctcacatttgtag	9	8	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:63982401C>T	uc003tta.2	-	4	904	c.731G>A	c.(730-732)GGC>GAC	p.G244D	ZNF680_uc010kzr.2_Missense_Mutation_p.G171D	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	244	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				AAAGGCTTTGCCACATTCCTC	0.358													T	63982401	C	T	63982401	3	4	274	1	0	0	0	0	1	0	0	0	18084	739	26	2	865	2	ZNF680	7	63982401	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	10878221	63982401	95156262	654	139960											
AUTS2	26053	broad.mit.edu	37	chr7	70254795	70254795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtcctcccggtgaatGccctgggacatacccgcagc	10	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:70254795G>T	uc003tvw.3	+	19	3336	c.2593G>T	c.(2593-2595)GCC>TCC	p.A865S	AUTS2_uc003tvx.3_Missense_Mutation_p.A841S|AUTS2_uc011keg.1_Missense_Mutation_p.A317S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	865										ovary(2)|central_nervous_system(1)	3		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)		CCCGGTGAATGCCCTGGGACA	0.582													T	70254795	G	T	70254795	3	4	274	1	0	0	0	0	1	0	0	0	1225	1319	46	5	2812	5	AUTS2	7	70254795	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6272394	70254795	88883868	655	139961											
WBSCR17	64409	broad.mit.edu	37	chr7	70597954	70597954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacctcagcgcgcacagcGccagccccatccaggatgcg	10	19	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:70597954G>A	uc003tvy.2	+	1	166	c.166G>A	c.(166-168)GCC>ACC	p.A56T		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	56	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGCGCACAGCGCCAGCCCCAT	0.706													A	70597954	G	A	70597954	3	1	274	1	0	0	0	0	1	0	0	0	17261	1087	38	1	168	1	WBSCR17	7	70597954	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	343159	70597954	88540709	656	139962											
FZD9	8326	broad.mit.edu	37	chr7	72849230	72849230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcctgtgaccaggaggCgggcgcgctctacgtgatcc	16	13	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:72849230C>T	uc003tyb.2	+	1	1122	c.893C>T	c.(892-894)GCG>GTG	p.A298V		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	298	Extracellular (Potential).				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)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GACCAGGAGGCGGGCGCGCTC	0.642													T	72849230	C	T	72849230	3	4	274	1	0	0	0	0	1	0	0	0	6137	768	27	1	895	1	FZD9	7	72849230	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2251276	72849230	86289433	657	139963											
MLXIPL	51085	broad.mit.edu	37	chr7	73013902	73013902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatggccgaggaagccGggggcacctctgggcccagg	19	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:73013902G>A	uc003tyn.1	-	8	1073	c.1025C>T	c.(1024-1026)CCG>CTG	p.P342L	MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Missense_Mutation_p.P342L|MLXIPL_uc003tyl.1_Missense_Mutation_p.P342L|MLXIPL_uc003tym.1_Missense_Mutation_p.P342L|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.P249L|MLXIPL_uc003tyq.1_Missense_Mutation_p.P84L	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	342					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			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGAGGAAGCCGGGGGCACCTC	0.652													A	73013902	G	A	73013902	3	1	274	1	0	0	0	0	1	0	0	0	9637	1116	39	1	1573	1	MLXIPL	7	73013902	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	164672	73013902	86124761	658	139964											
WBSCR22	114049	broad.mit.edu	37	chr7	73098116	73098116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttatgacgagacagaagCccggaaatacgttcgcaagt	11	8	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:73098116C>T	uc003tyt.2	+	2	126	c.68C>T	c.(67-69)GCC>GTC	p.A23V	DNAJC30_uc003tys.1_5'Flank|WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.A23V|WBSCR22_uc003tyv.2_5'UTR|WBSCR22_uc003tyw.1_5'UTR	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	23						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAGACAGAAGCCCGGAAATAC	0.592													T	73098116	C	T	73098116	3	4	274	1	0	0	0	0	1	0	0	0	17262	739	26	2	74	2	WBSCR22	7	73098116	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	84214	73098116	86040547	659	139965											
HIP1	3092	broad.mit.edu	37	chr7	75192520	75192520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggggatctgaatgagcCgcttgaagtactgcaggttg	16	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:75192520C>T	uc003uds.1	-	10	892	c.851G>A	c.(850-852)CGG>CAG	p.R284Q	HIP1_uc011kfz.1_Missense_Mutation_p.R161Q	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	284					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			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CTGAATGAGCCGCTTGAAGTA	0.597			T	PDGFRB	CMML								T	75192520	C	T	75192520	3	4	274	1	0	0	0	0	1	0	0	0	7114	652	23	1	2350	1	HIP1	7	75192520	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2094404	75192520	83946143	660	139966											
SRRM3	222183	broad.mit.edu	37	chr7	75896681	75896681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggatgggggtcgccccaGcggaacggcggcagcgggca	20	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:75896681G>A	uc010ldi.2	+	11	1145	c.936G>A	c.(934-936)CAG>CAA	p.Q312Q	SRRM3_uc011kgi.1_Missense_Mutation_p.A6T	NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						GGTCGCCCCAGCGGAACGGCG	0.751													A	75896681	G	A	75896681	2	1	274	1	0	0	0	0	0	0	0	1	15169	962	34	2		2	SRRM3	7	75896681	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	704161	75896681	83241982	661	139967											
DTX2	113878	broad.mit.edu	37	chr7	76112320	76112320	+	Frame_Shift_Del	DEL	C	C	-													caaaccctcactctccggggCccggtctgcgcccaggctga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:76112319_76112319GC>G	uc011kgk.1	+	2	842	c.490_490GC>G	c.(490-492)gccfs	p.A164fs	DTX2_uc003uff.4_Frame_Shift_Del_p.A255fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.A255fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.A255fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.A255fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	255	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACTCTCCGGGGCCCGGTCTGC	0.682													-	76112320	C	-	76112320	7	5	274	1	0	1	0	1	0	0	0	0	4794	739	26	0	770	0	DTX2	7	76112320	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	215639	76112320	83026343	662	139968											
PHTF2	57157	broad.mit.edu	37	chr7	77569849	77569849	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatcttttttagcgatTactttttgcaaaactctttg	4	7	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:77569849T>C	uc003ugs.3	+	14	1871	c.1745T>C	c.(1744-1746)TTA>TCA	p.L582S	PHTF2_uc003ugq.3_Missense_Mutation_p.L544S|PHTF2_uc010ldv.2_Missense_Mutation_p.L544S|PHTF2_uc003ugt.3_Missense_Mutation_p.L548S|PHTF2_uc003ugu.3_Missense_Mutation_p.L544S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						TTTTAGCGATTACTTTTTGCA	0.303													C	77569849	T	C	77569849	3	2	274	1	0	0	0	0	1	0	0	0	11863	1764	61	3	1747	3	PHTF2	7	77569849	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1457529	77569849	81568814	663	139969											
MAGI2	9863	broad.mit.edu	37	chr7	78636429	78636429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtgcggaggtagaggTtgtcacgaatgatttgctga	15	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:78636429T>C	uc003ugx.2	-	2	649	c.395A>G	c.(394-396)AAC>AGC	p.N132S	MAGI2_uc003ugy.2_Missense_Mutation_p.N132S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	132	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAGGTAGAGGTTGTCACGAAT	0.368													C	78636429	T	C	78636429	3	2	274	1	0	0	0	0	1	0	0	0	9191	1725	60	3	4056	3	MAGI2	7	78636429	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1066580	78636429	80502234	664	139970											
SEMA3C	10512	broad.mit.edu	37	chr7	80374227	80374227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atattatgactctggcaactGattcctcctgtttctacttt	5	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:80374227G>A	uc003uhj.2	-	18	2801	c.2239C>T	c.(2239-2241)CAG>TAG	p.Q747*	SEMA3C_uc011kgw.1_Nonsense_Mutation_p.Q765*	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	747					immune response|response to drug	membrane	receptor activity			ovary(1)	1						TCTGGCAACTGATTCCTCCTG	0.398													A	80374227	G	A	80374227	4	1	274	1	0	0	0	0	0	1	0	0	14026	1299	45	4	20	4	SEMA3C	7	80374227	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1737798	80374227	78764436	665	139971											
SEMA3C	10512	broad.mit.edu	37	chr7	80418778	80418778	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaggatggttccgaataaAagtgacaacatcatctggga	12	6	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:80418778A>C	uc003uhj.2	-	12	1760	c.1198T>G	c.(1198-1200)TTT>GTT	p.F400V	SEMA3C_uc011kgw.1_Missense_Mutation_p.F418V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	400	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						TTCCGAATAAAAGTGACAACA	0.398													C	80418778	A	C	80418778	3	2	274	1	0	0	0	0	1	0	0	0	14026	14	1	5	1085	5	SEMA3C	7	80418778	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	44551	80418778	78719885	666	139972											
PCLO	27445	broad.mit.edu	37	chr7	82785132	82785132	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcctggatgcatctcgTtgaagtggcaattttgcatg	13	7	1	2	rs61742779	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:82785132T>G	uc003uhx.2	-	2	1114	c.825A>C	c.(823-825)CAA>CAC	p.Q275H	PCLO_uc003uhv.2_Missense_Mutation_p.Q275H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	275	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATGCATCTCGTTGAAGTGGCA	0.468													G	82785132	T	G	82785132	3	3	274	1	0	0	0	0	1	0	0	0	11583	1722	60	5	14716	5	PCLO	7	82785132	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2366354	82785132	76353531	667	139973											
SEMA3A	10371	broad.mit.edu	37	chr7	83590976	83590976	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcatctttatgaagaAgttcttccaaatgctctgtg	6	9	5	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:83590976A>C	uc003uhz.2	-	17	2342	c.2027T>G	c.(2026-2028)CTT>CGT	p.L676R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	676					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTTATGAAGAAGTTCTTCCAA	0.443													C	83590976	A	C	83590976	3	2	274	1	0	0	0	0	1	0	0	0	14024	72	3	5	292	5	SEMA3A	7	83590976	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	805844	83590976	75547687	668	139974											
SEMA3D	223117	broad.mit.edu	37	chr7	84642152	84642152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatattttacatcttggcGtctagctctcctgcggaaag	9	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:84642152G>A	uc003uic.2	-	15	1754	c.1714C>T	c.(1714-1716)CGC>TGC	p.R572C	SEMA3D_uc010led.2_Missense_Mutation_p.R572C|SEMA3D_uc003uib.2_Missense_Mutation_p.R211C	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	572	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						ACATCTTGGCGTCTAGCTCTC	0.403													A	84642152	G	A	84642152	3	1	274	1	0	0	0	0	1	0	0	0	14027	1145	40	1	631	1	SEMA3D	7	84642152	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1051176	84642152	74496511	669	139975											
KIAA1324L	222223	broad.mit.edu	37	chr7	86556159	86556159	+	Frame_Shift_Del	DEL	G	G	-													aatccttcttctctccagaaGggggcaatctaatagcatct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:86556158_86556158AG>A	uc011kha.2	-	8	1349	c.1164_1164CT>T	c.(1162-1164)cctfs	p.P388fs	KIAA1324L_uc003uie.3_Frame_Shift_Del_p.P221fs|KIAA1324L_uc011kgz.2_Frame_Shift_Del_p.P274fs|KIAA1324L_uc003uif.2_Frame_Shift_Del_p.P140fs	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	388						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)					TCTCTCCAGAAGGGGGCAATC	0.413													-	86556159	G	-	86556159	7	5	274	1	0	1	0	1	0	0	0	0	8224	1000	35	0	1982	0	KIAA1324L	7	86556159	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	1914007	86556159	72582504	670	139976											
CROT	54677	broad.mit.edu	37	chr7	87011774	87011774	+	Frame_Shift_Del	DEL	A	A	-													atgcctttacatcttttggcAaaaagctaaccaagaacaag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87011773_87011773CA>C	uc003uiu.3	+	13	1544	c.1299_1299CA>C	c.(1297-1299)ggcfs	p.G433fs	CROT_uc003uit.3_Frame_Shift_Del_p.G405fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	405					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CATCTTTTGGCAAAAAGCTAA	0.408													-	87011774	A	-	87011774	7	5	274	1	0	1	0	1	0	0	0	0	3894	131	5	0	1346	0	CROT	7	87011774	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	455615	87011774	72126889	671	139977											
CROT	54677	broad.mit.edu	37	chr7	87021891	87021891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaatacagcttcgtgagCggcagcaaaagatgttacaa	9	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87021891C>T	uc003uit.2	+	15	1680	c.1435C>T	c.(1435-1437)CGG>TGG	p.R479W	CROT_uc003uiu.2_Missense_Mutation_p.R507W	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	479					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GCTTCGTGAGCGGCAGCAAAA	0.338													T	87021891	C	T	87021891	3	4	274	1	0	0	0	0	1	0	0	0	3894	759	27	1	1573	1	CROT	7	87021891	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	10117	87021891	72116772	672	139978											
ABCB1	5243	broad.mit.edu	37	chr7	87165829	87165829	+	Frame_Shift_Del	DEL	T	T	-													tagtcaatgctccagtggtgTttttagggtcatcaaaccaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87165828_87165828GT>G	uc003uiz.2	-	20	2920	c.2427_2427AC>C	c.(2425-2427)aacfs	p.N809fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.N745fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	809	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|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)	CTCCAGTGGTGTTTTTAGGGT	0.448													-	87165829	T	-	87165829	7	5	274	1	0	1	0	1	0	0	0	0	40	1725	60	0	1452	0	ABCB1	7	87165829	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	143938	87165829	71972834	673	139979											
ADAM22	53616	broad.mit.edu	37	chr7	87810888	87810888	+	Frame_Shift_Del	DEL	A	A	-													acatatttcagacatctgtgAaaatgggcgacctcgaagta							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:87810887_87810887GA>G	uc003ujn.3	+	27	2691	c.2476_2476GA>G	c.(2476-2478)gaafs	p.E826fs	ADAM22_uc003ujk.2_Frame_Shift_Del_p.E826fs|ADAM22_uc003ujl.2_Frame_Shift_Del_p.E790fs|ADAM22_uc003ujm.3_Frame_Shift_Del_p.E790fs|ADAM22_uc003ujo.3_Frame_Shift_Del_p.E790fs|ADAM22_uc003ujp.1_Frame_Shift_Del_p.E878fs	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	826					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)			AGACATCTGTGAAAATGGGCG	0.403													-	87810888	A	-	87810888	7	5	274	1	0	1	0	1	0	0	0	0	244	246	9	0	2587	0	ADAM22	7	87810888	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	645059	87810888	71327775	674	139980											
ZNF804B	219578	broad.mit.edu	37	chr7	88963494	88963494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacaaaagagtacagtgCatctgaatccaaattccaga	8	8	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88963494C>T	uc011khi.1	+	4	1736	c.1198C>T	c.(1198-1200)CAT>TAT	p.H400Y		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	400						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGTACAGTGCATCTGAATCC	0.373										HNSCC(36;0.09)			T	88963494	C	T	88963494	3	4	274	1	0	0	0	0	1	0	0	0	18168	710	25	2	1212	2	ZNF804B	7	88963494	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1152606	88963494	70175169	675	139981											
ZNF804B	219578	broad.mit.edu	37	chr7	88964271	88964271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaattcaactgcaagtccAgtccttgtacagtagggggt	11	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88964271A>G	uc011khi.1	+	4	2513	c.1975A>G	c.(1975-1977)AGT>GGT	p.S659G		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	659						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCAAGTCCAGTCCTTGTAC	0.418										HNSCC(36;0.09)			G	88964271	A	G	88964271	3	3	274	1	0	0	0	0	1	0	0	0	18168	188	7	3	1989	3	ZNF804B	7	88964271	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	777	88964271	70174392	676	139982											
ZNF804B	219578	broad.mit.edu	37	chr7	88965847	88965847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcgagttttgcctgctgCagggcctactgccttctctc	9	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88965847C>A	uc011khi.1	+	4	4089	c.3551C>A	c.(3550-3552)GCA>GAA	p.A1184E		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1184						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCCTGCTGCAGGGCCTACT	0.488										HNSCC(36;0.09)			A	88965847	C	A	88965847	3	1	274	1	0	0	0	0	1	0	0	0	18168	710	25	5	3565	5	ZNF804B	7	88965847	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1576	88965847	70172816	677	139983											
ZNF804B	219578	broad.mit.edu	37	chr7	88966259	88966259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccagtattccaaggtcaAgatttttgccatcattcttg	6	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:88966259A>C	uc011khi.1	+	4	4501	c.3963A>C	c.(3961-3963)CAA>CAC	p.Q1321H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1321						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCAAGGTCAAGATTTTTGCC	0.388										HNSCC(36;0.09)			C	88966259	A	C	88966259	3	2	274	1	0	0	0	0	1	0	0	0	18168	69	3	5	3977	5	ZNF804B	7	88966259	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	412	88966259	70172404	678	139984											
STEAP2	261729	broad.mit.edu	37	chr7	89861856	89861856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaaaacgaattaaaaaagGctgggaaaagagccaatttc	9	6	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:89861856G>A	uc003ujz.2	+	5	1784	c.1391G>A	c.(1390-1392)GGC>GAC	p.G464D	STEAP2_uc010len.2_Missense_Mutation_p.G464D|STEAP2_uc003uka.2_Intron|STEAP2_uc003ukb.2_Missense_Mutation_p.G464D|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Intron	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	464					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			ovary(2)	2	all_hematologic(106;0.112)					ATTAAAAAAGGCTGGGAAAAG	0.398													A	89861856	G	A	89861856	3	1	274	1	0	0	0	0	1	0	0	0	15277	1203	42	2	1405	2	STEAP2	7	89861856	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	895597	89861856	69276807	679	139985											
AKAP9	10142	broad.mit.edu	37	chr7	91691589	91691589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaattttgtattataggCgtcattgatggctatgcaga	10	4	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:91691589C>T	uc003ulg.2	+	24	5991	c.5766C>T	c.(5764-5766)GGC>GGT	p.G1922G	AKAP9_uc003ulf.2_Silent_p.G1922G|AKAP9_uc003uli.2_Silent_p.G1545G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1934	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			GTATTATAGGCGTCATTGATG	0.299			T	BRAF	papillary thyroid								T	91691589	C	T	91691589	2	4	274	1	0	0	0	0	0	0	0	1	459	782	27	1		1	AKAP9	7	91691589	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1829733	91691589	67447074	680	139986											
PEX1	5189	broad.mit.edu	37	chr7	92122435	92122435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacatttaaaatttcaagAcgtgacacctgaaaggagaa	9	6	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92122435A>G	uc003uly.2	-	20	3135	c.3039T>C	c.(3037-3039)CGT>CGC	p.R1013R	PEX1_uc011khr.1_Silent_p.R805R|PEX1_uc010ley.2_Silent_p.R956R|PEX1_uc011khs.1_Silent_p.R691R	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1013					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			ovary(1)|central_nervous_system(1)	2	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)			AAATTTCAAGACGTGACACCT	0.299													G	92122435	A	G	92122435	2	3	274	1	0	0	0	0	0	0	0	1	11735	262	10	3		3	PEX1	7	92122435	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	430846	92122435	67016228	681	139987											
PEX1	5189	broad.mit.edu	37	chr7	92134057	92134057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttaccatgagcaagcCgctggctctgcaccgcatca	9	14	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92134057C>T	uc003uly.2	-	12	2156	c.2060G>A	c.(2059-2061)CGG>CAG	p.R687Q	PEX1_uc011khr.1_Missense_Mutation_p.R479Q|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Missense_Mutation_p.R365Q|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	687			Missing (in NALD).		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			ovary(1)|central_nervous_system(1)	2	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)			ATGAGCAAGCCGCTGGCTCTG	0.483													T	92134057	C	T	92134057	3	4	274	1	0	0	0	0	1	0	0	0	11735	652	23	1	1843	1	PEX1	7	92134057	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	11622	92134057	67004606	682	139988											
PEX1	5189	broad.mit.edu	37	chr7	92147474	92147474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatttggataaatatgtaCgtttgttgatcaacccaaac	6	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92147474C>T	uc003uly.2	-	4	549	c.453G>A	c.(451-453)ACG>ACA	p.T151T	PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Silent_p.T151T|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	151					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			ovary(1)|central_nervous_system(1)	2	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)			TAAATATGTACGTTTGTTGAT	0.353													T	92147474	C	T	92147474	2	4	274	1	0	0	0	0	0	0	0	1	11735	523	19	1		1	PEX1	7	92147474	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	13417	92147474	66991189	683	139989											
SAMD9L	219285	broad.mit.edu	37	chr7	92761948	92761948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatataggaatttttaggtgCtttcattttggcctgacgtg	10	5	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:92761948C>A	uc003umh.1	-	5	4553	c.3337G>T	c.(3337-3339)GCA>TCA	p.A1113S	SAMD9L_uc003umj.1_Missense_Mutation_p.A1113S|SAMD9L_uc003umi.1_Missense_Mutation_p.A1113S|SAMD9L_uc010lfb.1_Missense_Mutation_p.A1113S|SAMD9L_uc003umk.1_Missense_Mutation_p.A1113S|SAMD9L_uc010lfc.1_Missense_Mutation_p.A1113S|SAMD9L_uc010lfd.1_Missense_Mutation_p.A1113S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1113										ovary(4)	4	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)			TTTTTAGGTGCTTTCATTTTG	0.383													A	92761948	C	A	92761948	3	1	274	1	0	0	0	0	1	0	0	0	13827	797	28	5	1421	5	SAMD9L	7	92761948	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	614474	92761948	66376715	684	139990											
ASB4	51666	broad.mit.edu	37	chr7	95157167	95157167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaaccaagatgaggagaCgcccttgcacacggctgccc	10	15	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:95157167C>T	uc011kij.1	+	3	530	c.530C>T	c.(529-531)ACG>ATG	p.T177M	ASB4_uc003unx.2_Missense_Mutation_p.T177M	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	177	ANK 4.				intracellular signal transduction					central_nervous_system(1)	1	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)			GATGAGGAGACGCCCTTGCAC	0.498											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	95157167	C	T	95157167	3	4	274	1	0	0	0	0	1	0	0	0	1025	536	19	1	540	1	ASB4	7	95157167	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2395219	95157167	63981496	685	139991											
LMTK2	22853	broad.mit.edu	37	chr7	97800932	97800932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgctgcagaggatggCgtgcgaggtcgccgcggggc	19	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:97800932C>T	uc003upd.1	+	7	1030	c.737C>T	c.(736-738)GCG>GTG	p.A246V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	246	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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					CAGAGGATGGCGTGCGAGGTC	0.672													T	97800932	C	T	97800932	3	4	274	1	0	0	0	0	1	0	0	0	8859	768	27	1	763	1	LMTK2	7	97800932	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2643765	97800932	61337731	686	139992											
TECPR1	25851	broad.mit.edu	37	chr7	97852434	97852434	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atggacacgtccctgagggcGatggggggcacctccagcca	15	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:97852434G>T	uc003upg.2	-	21	3001	c.2796C>A	c.(2794-2796)ATC>ATA	p.I932I		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	932						integral to membrane	protein binding			pancreas(1)	1						CCCTGAGGGCGATGGGGGGCA	0.667													T	97852434	G	T	97852434	2	4	274	1	0	0	0	0	0	0	0	1	15740	1048	37	5		5	TECPR1	7	97852434	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	51502	97852434	61286229	687	139993											
TRRAP	8295	broad.mit.edu	37	chr7	98559056	98559056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttgcgagccgtccacaGccttctctcgcgcctgatga	12	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:98559056G>T	uc003upp.2	+	45	6850	c.6641G>T	c.(6640-6642)AGC>ATC	p.S2214I	TRRAP_uc011kis.1_Missense_Mutation_p.S2196I|TRRAP_uc003upr.2_Missense_Mutation_p.S1913I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2214	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			GCCGTCCACAGCCTTCTCTCG	0.567													T	98559056	G	T	98559056	3	4	274	1	0	0	0	0	1	0	0	0	16598	971	34	5	6757	5	TRRAP	7	98559056	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	706622	98559056	60579607	688	139994											
TRRAP	8295	broad.mit.edu	37	chr7	98559094	98559094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcattttcccaacagagCcgagtatgtgacctttccca	8	12	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:98559094C>T	uc003upp.2	+	45	6888	c.6679C>T	c.(6679-6681)CCG>TCG	p.P2227S	TRRAP_uc011kis.1_Missense_Mutation_p.P2209S|TRRAP_uc003upr.2_Missense_Mutation_p.P1926S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2227	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			CCCAACAGAGCCGAGTATGTG	0.562													T	98559094	C	T	98559094	3	4	274	1	0	0	0	0	1	0	0	0	16598	739	26	2	6795	2	TRRAP	7	98559094	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	38	98559094	60579569	689	139995											
OR2AE1	81392	broad.mit.edu	37	chr7	99473841	99473841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtagaacacagaaccAactttgttctgcaatagagt	8	8	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:99473841A>G	uc003usc.1	-	1	816	c.816T>C	c.(814-816)GTT>GTC	p.V272V		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACACAGAACCAACTTTGTTCT	0.473													G	99473841	A	G	99473841	2	3	274	1	0	0	0	0	0	0	0	1	10983	117	5	3		3	OR2AE1	7	99473841	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	914747	99473841	59664822	690	139996											
GPC2	221914	broad.mit.edu	37	chr7	99771469	99771469	+	Frame_Shift_Del	DEL	C	C	-													tcccctcacccagatagttgCcccagtcaggctccagtccc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:99771468_99771468GC>G	uc003utv.3	-	4	1050	c.882_882GC>C	c.(880-882)ggcfs	p.G294fs	GPC2_uc010lgr.3_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	294						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)					CCAGATAGTTGCCCCAGTCAG	0.602													-	99771469	C	-	99771469	7	5	274	1	0	1	0	1	0	0	0	0	6598	739	26	0	882	0	GPC2	7	99771469	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	297628	99771469	59367194	691	139997											
ZAN	7455	broad.mit.edu	37	chr7	100350317	100350317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaccatccccacagaaaaAcccaccatctccccagaaaa	2	20	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100350317A>C	uc003uwj.2	+	14	2754	c.2589A>C	c.(2587-2589)AAA>AAC	p.K863N	ZAN_uc003uwk.2_Missense_Mutation_p.K863N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	863	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATCT	0.498													C	100350317	A	C	100350317	3	2	274	1	0	0	0	0	1	0	0	0	17510	40	2	5	2639	5	ZAN	7	100350317	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	578848	100350317	58788346	692	139998											
EPHB4	2050	broad.mit.edu	37	chr7	100401094	100401094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaggtcagtactgcgGggccggtcctcctgtcccac	12	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100401094G>T	uc003uwn.1	-	17	3444	c.2953C>A	c.(2953-2955)CCG>ACG	p.P985T	EPHB4_uc003uwm.1_Missense_Mutation_p.P892T|EPHB4_uc010lhj.1_Missense_Mutation_p.P933T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	985	Cytoplasmic (Potential).|PDZ-binding (Potential).				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGTACTGCGGGGCCGGTCCT	0.662													T	100401094	G	T	100401094	3	4	274	1	0	0	0	0	1	0	0	0	5177	1232	43	5	14	5	EPHB4	7	100401094	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	50777	100401094	58737569	693	139999											
TRIP6	7205	broad.mit.edu	37	chr7	100470351	100470351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgaagttttcacattggCtgttacaagtgcgaggtcag	12	7	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100470351C>T	uc003uww.2	+	8	1454	c.1284C>T	c.(1282-1284)GGC>GGT	p.G428G	SRRT_uc010lhl.1_5'Flank|SRRT_uc003uwy.2_5'Flank|SRRT_uc003uxa.2_5'Flank|SRRT_uc003uwz.2_5'Flank	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	428	LIM zinc-binding 3.				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			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCACATTGGCTGTTACAAGT	0.577													T	100470351	C	T	100470351	2	4	274	1	0	0	0	0	0	0	0	1	16556	784	28	2		2	TRIP6	7	100470351	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	69257	100470351	58668312	694	140000											
ACHE	43	broad.mit.edu	37	chr7	100488956	100488956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtctcggggctcattgggAtccctgcggaaggaagggaa	18	8	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100488956A>G	uc003uxd.2	-	3	1713	c.1557T>C	c.(1555-1557)GAT>GAC	p.D519D	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.D519D|ACHE_uc003uxf.2_Silent_p.D519D|ACHE_uc003uxg.2_Silent_p.D519D|ACHE_uc003uxh.2_Silent_p.D431D|ACHE_uc003uxi.2_Silent_p.D519D	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	519					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCTCATTGGGATCCCTGCGGA	0.682													G	100488956	A	G	100488956	2	3	274	1	0	0	0	0	0	0	0	1	141	330	12	3		3	ACHE	7	100488956	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	18605	100488956	58649707	695	140001											
C7orf52	375607	broad.mit.edu	37	chr7	100815807	100815807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaggcgtgccacgtcGccgcctgcctcggacacggc	15	16	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:100815807G>A	uc003uxy.1	-	4	902	c.663C>T	c.(661-663)GGC>GGT	p.G221G	C7orf52_uc003uxz.1_Silent_p.G221G	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	221							N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGCCACGTCGCCGCCTGCCT	0.736													A	100815807	G	A	100815807	2	1	274	1	0	0	0	0	0	0	0	1	2401	1074	38	1		1	C7orf52	7	100815807	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	326851	100815807	58322856	696	140002											
SLC26A3	1811	broad.mit.edu	37	chr7	107423730	107423730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcaaatgcaaccattgCgatgccgaagcaatctccta	7	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:107423730C>T	uc003ver.2	-	9	1250	c.1039G>A	c.(1039-1041)GCA>ACA	p.A347T	SLC26A3_uc003ves.2_Missense_Mutation_p.A312T	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	347	Helical; (Potential).				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			ovary(3)|skin(1)	4						GCAACCATTGCGATGCCGAAG	0.428													T	107423730	C	T	107423730	3	4	274	1	0	0	0	0	1	0	0	0	14518	768	27	1	1307	1	SLC26A3	7	107423730	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6607923	107423730	51714933	697	140003											
LAMB4	22798	broad.mit.edu	37	chr7	107696398	107696398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcccggcagcggcacatgCctgtgtctggatcacagatg	12	14	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:107696398C>A	uc010ljo.1	-	25	3518	c.3434G>T	c.(3433-3435)GGC>GTC	p.G1145V	LAMB4_uc003vey.2_Missense_Mutation_p.G1145V|LAMB4_uc010ljp.1_Missense_Mutation_p.G114V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1145	Laminin EGF-like 13.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCGGCACATGCCTGTGTCTGG	0.542													A	107696398	C	A	107696398	3	1	274	1	0	0	0	0	1	0	0	0	8613	739	26	5	1891	5	LAMB4	7	107696398	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	272668	107696398	51442265	698	140004											
CAV2	858	broad.mit.edu	37	chr7	116139935	116139935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgaccccgagaagttcGcggactcggaccaggaccgg	14	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:116139935G>A	uc003vid.2	+	1	492	c.100G>A	c.(100-102)GCG>ACG	p.A34T	CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_RNA|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_RNA|CAV2_uc003via.2_RNA|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Missense_Mutation_p.A34T	NM_001233	NP_001224	P51636	CAV2_HUMAN	caveolin 2 isoform a and b	34	Cytoplasmic (Potential).				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity				0	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			CGAGAAGTTCGCGGACTCGGA	0.682													A	116139935	G	A	116139935	3	1	274	1	0	0	0	0	1	0	0	0	2694	1087	38	1	102	1	CAV2	7	116139935	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8443537	116139935	42998728	699	140005											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432385	117432385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagatatggaaaccaaacGcctatcttttgtcttccgtg	7	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:117432385G>A	uc003vjf.2	-	4	957	c.865C>T	c.(865-867)CGT>TGT	p.R289C		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	289										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAAACCAAACGCCTATCTTTT	0.443													A	117432385	G	A	117432385	3	1	274	1	0	0	0	0	1	0	0	0	4045	1087	38	1	4206	1	CTTNBP2	7	117432385	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1292450	117432385	41706278	700	140006											
KCND2	3751	broad.mit.edu	37	chr7	119915384	119915384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccttcttctgcttggAcacggcctgcgtcatgatct	11	12	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:119915384A>G	uc003vjj.1	+	1	1663	c.698A>G	c.(697-699)GAC>GGC	p.D233G		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	233	Helical; Name=Segment S2; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TTCTGCTTGGACACGGCCTGC	0.532													G	119915384	A	G	119915384	3	3	274	1	0	0	0	0	1	0	0	0	8019	275	10	3	700	3	KCND2	7	119915384	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2482999	119915384	39223279	701	140007											
LRRC4	64101	broad.mit.edu	37	chr7	127669503	127669503	+	Silent	SNP	G	G	T													aggacagagatccttgggtgGcgggaggcgtggctgagcac					rs141815231		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:127669503G>T	uc003vmk.2	-	2	1328	c.1191C>A	c.(1189-1191)CGC>CGA	p.R397R	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	397	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TCCTTGGGTGGCGGGAGGCGT	0.562													T	127669503	G	T	127669503	2	4	274	1	0	0	0	0	0	0	0	1	8997	1190	42	5		5	LRRC4	7	127669503	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	7754119	127669503	31469160	702	140008	751	2									
LRRC4	64101	broad.mit.edu	37	chr7	127669511	127669511	+	Missense_Mutation	SNP	C	C	T													gatccttgggtggcgggaggCgtggctgagcactgtcccat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:127669511C>T	uc003vmk.2	-	2	1320	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	395	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TGGCGGGAGGCGTGGCTGAGC	0.562													T	127669511	C	T	127669511	3	4	274	1	0	0	0	0	1	0	0	0	8997	768	27	1	782	1	LRRC4	7	127669511	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8	127669511	31469152	703	140009	751	2									
IRF5	3663	broad.mit.edu	37	chr7	128587086	128587086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttcagctgcagaggAtgttgccaagcctgagcctc	11	13	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:128587086A>T	uc003vog.2	+	5	578	c.457A>T	c.(457-459)ATG>TTG	p.M153L	IRF5_uc010llr.1_Intron|IRF5_uc011kou.1_Missense_Mutation_p.M153L|IRF5_uc010lls.1_Intron|IRF5_uc003voh.2_Missense_Mutation_p.M153L|IRF5_uc010llt.2_Missense_Mutation_p.M153L|IRF5_uc003voi.2_Missense_Mutation_p.M153L|IRF5_uc010llu.1_Intron|IRF5_uc003vok.2_Silent_p.G143G|IRF5_uc003voj.3_Missense_Mutation_p.M153L|IRF5_uc010llv.1_Intron|IRF5_uc010llw.1_Intron	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	153					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGCAGAGGATGTTGCCAAG	0.572													T	128587086	A	T	128587086	3	4	274	1	0	0	0	0	1	0	0	0	7833	333	12	5	471	5	IRF5	7	128587086	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	917575	128587086	30551577	704	140010											
EXOC4	60412	broad.mit.edu	37	chr7	133749275	133749275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacaagaagataactacCgtttagcagggcgtactgcg	12	8	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:133749275C>T	uc003vrk.2	+	18	2954	c.2919C>T	c.(2917-2919)ACC>ACT	p.T973T	EXOC4_uc011kpo.1_Silent_p.T872T|EXOC4_uc003vrl.2_Silent_p.T583T|EXOC4_uc011kpp.1_Silent_p.T505T|EXOC4_uc011kpq.1_Silent_p.T261T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	973					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AGATAACTACCGTTTAGCAGG	0.507													T	133749275	C	T	133749275	2	4	274	1	0	0	0	0	0	0	0	1	5306	639	23	1		1	EXOC4	7	133749275	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5162189	133749275	25389388	705	140011											
C7orf49	78996	broad.mit.edu	37	chr7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-													tgctacaggcagagctggaaCcccccggcctctgggaaggg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592													-	134851448	C	-	134851448	7	5	274	1	0	1	0	1	0	0	0	0	2398	507	18	0	88	0	C7orf49	7	134851448	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1102173	134851448	24287215	706	140012											
FAM180A	389558	broad.mit.edu	37	chr7	135418799	135418799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggctaacgagggactgcGcccagatgtccttctgatgg	14	10	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:135418799G>A	uc003vtd.2	-	3	712	c.446C>T	c.(445-447)GCG>GTG	p.A149V	FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.A149V	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	hypothetical protein LOC389558 precursor	149						extracellular region				ovary(2)	2						GAGGGACTGCGCCCAGATGTC	0.607													A	135418799	G	A	135418799	3	1	274	1	0	0	0	0	1	0	0	0	5507	1087	38	1	79	1	FAM180A	7	135418799	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	567351	135418799	23719864	707	140013											
CHRM2	1129	broad.mit.edu	37	chr7	136700065	136700065	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcctgggtcctctcTttcatcctctgggctccagc	10	16	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:136700065T>G	uc003vtf.1	+	4	1076	c.453T>G	c.(451-453)TCT>TCG	p.S151S	CHRM2_uc003vtg.1_Silent_p.S151S|CHRM2_uc003vtj.1_Silent_p.S151S|CHRM2_uc003vtk.1_Silent_p.S151S|CHRM2_uc003vtl.1_Silent_p.S151S|CHRM2_uc003vtm.1_Silent_p.S151S|CHRM2_uc003vti.1_Silent_p.S151S|CHRM2_uc003vto.1_Silent_p.S151S|CHRM2_uc003vtn.1_Silent_p.S151S|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	151	Helical; Name=4; (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	GGGTCCTCTCTTTCATCCTCT	0.498													G	136700065	T	G	136700065	2	3	274	1	0	0	0	0	0	0	0	1	3377	1596	56	5		5	CHRM2	7	136700065	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1281266	136700065	22438598	708	140014											
MKRN1	23608	broad.mit.edu	37	chr7	140159029	140159029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttcagtgcaggaaggCgcagctgaaaatgtgtaaga	15	6	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:140159029C>T	uc003vvt.2	-	4	774	c.549G>A	c.(547-549)GCG>GCA	p.A183A	MKRN1_uc003vvs.2_Silent_p.A119A|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Silent_p.A183A|MKRN1_uc003vvu.3_Silent_p.A119A	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	183							ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					TGCAGGAAGGCGCAGCTGAAA	0.463													T	140159029	C	T	140159029	2	4	274	1	0	0	0	0	0	0	0	1	9606	755	27	1		1	MKRN1	7	140159029	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3458964	140159029	18979634	709	140015											
EPHA1	2041	broad.mit.edu	37	chr7	143096040	143096040	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggggccgaggggggaccTgtgggagaagaggagccatc	22	8	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:143096040T>C	uc003wcz.2	-	6	1079	c.992_splice	c.e6-1	p.G331_splice		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor							integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGGGGGACCTGTGGGAGAAG	0.637													C	143096040	T	C	143096040	5	2	274	1	0	0	0	0	0	0	1	0	5165	1594	55	3	1992	3	EPHA1	7	143096040	Splice_Site	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2937011	143096040	16042623	710	140016											
EPHA1	2041	broad.mit.edu	37	chr7	143096757	143096757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaccaacacatgcttcGccactgccaccttcctcata	3	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:143096757G>A	uc003wcz.2	-	4	909	c.822C>T	c.(820-822)GGC>GGT	p.G274G		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	274	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CACATGCTTCGCCACTGCCAC	0.627													A	143096757	G	A	143096757	2	1	274	1	0	0	0	0	0	0	0	1	5165	1074	38	1		1	EPHA1	7	143096757	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	717	143096757	16041906	711	140017											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997365	146997365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaagttaaaactggcgAgaagtacttttttggaggta	10	6	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:146997365A>G	uc003weu.1	+	9	1997	c.1481A>G	c.(1480-1482)GAG>GGG	p.E494G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	494	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			AAAACTGGCGAGAAGTACTTT	0.363										HNSCC(39;0.1)			G	146997365	A	G	146997365	3	3	274	1	0	0	0	0	1	0	0	0	3647	304	11	3	1515	3	CNTNAP2	7	146997365	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	3900608	146997365	12141298	712	140018											
TMUB1	83590	broad.mit.edu	37	chr7	150779570	150779570	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgtgcgttgagacccaGgcaagggccagcaccagaag	16	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:150779570G>T	uc003wjb.2	-	1	196	c.81C>A	c.(79-81)GCC>GCA	p.A27A	FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Silent_p.A27A|TMUB1_uc003wjd.2_Silent_p.A27A	NM_031434	NP_113622	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain	27	Nuclear export signal (Potential).					cytoplasm|integral to membrane|nucleus					0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGAGACCCAGGCAAGGGCCA	0.672													T	150779570	G	T	150779570	2	4	274	1	0	0	0	0	0	0	0	1	16261	987	35	5		5	TMUB1	7	150779570	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3782205	150779570	8359093	713	140019											
AGAP3	116988	broad.mit.edu	37	chr7	150783997	150783998	+	Frame_Shift_Ins	INS	-	-	C													gcagcagctggccggcgggcINSccccccagcagttcgcgctc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr7:150783996_150783997G>GC	uc003wjg.1	+	0	171_172	c.168_169G>GC	c.(166-171)gggcccfs	p.G56fs	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjf.1_Frame_Shift_Ins_p.G56fs|AGAP3_uc010lpy.1_Frame_Shift_Ins_p.G56fs	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	20					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						TGGCCGGCGGGCCCCCCCAGCA	0.752													C	150783998	-	C	150783997	7	5	274	1	0	1	1	0	0	0	0	0	369	739	26	0	171	0	AGAP3	7	150783997	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	4427	150783997	8354666	714	140020											
ZNF596	169270	broad.mit.edu	37	chr8	195870	195870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatgtcatctatgtggAaaagccttctctcattgttc	7	8	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:195870A>G	uc003wot.2	+	6	1311	c.1023A>G	c.(1021-1023)GGA>GGG	p.G341G	ZNF596_uc003wou.2_Silent_p.G240G|ZNF596_uc003wov.2_Silent_p.G341G|ZNF596_uc003wow.2_Silent_p.G341G	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	341	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATCTATGTGGAAAAGCCTTCT	0.403													G	195870	A	G	195870	2	3	274	1	0	0	0	0	0	0	0	1	18023	233	9	3		3	ZNF596	8	195870	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08		195870	146168152	715	140021											
CSMD1	64478	broad.mit.edu	37	chr8	3224684	3224684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccggtgagcctggcaacGggctcggaaaaacttccatc	12	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:3224684G>A	uc011kwk.1	-	20	3378	c.2988C>T	c.(2986-2988)CCC>CCT	p.P996P	CSMD1_uc011kwj.1_Silent_p.P388P|CSMD1_uc003wqe.2_Silent_p.P152P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	996	Extracellular (Potential).|CUB 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)		GCCTGGCAACGGGCTCGGAAA	0.473													A	3224684	G	A	3224684	2	1	274	1	0	0	0	0	0	0	0	1	3944	1103	39	1		1	CSMD1	8	3224684	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3028814	3224684	143139338	716	140022											
PSD3	23362	broad.mit.edu	37	chr8	18490163	18490163	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatgaattttccgagccaaGaatccacttttgtacacagc	7	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:18490163G>T	uc003wza.2	-	11	2473	c.2370C>A	c.(2368-2370)TTC>TTA	p.F790L	PSD3_uc003wyx.3_Missense_Mutation_p.F119L|PSD3_uc003wyy.2_Missense_Mutation_p.F256L|PSD3_uc003wyz.2_Missense_Mutation_p.F91L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	791	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCGAGCCAAGAATCCACTTT	0.358													T	18490163	G	T	18490163	3	4	274	1	0	0	0	0	1	0	0	0	12648	933	33	5	797	5	PSD3	8	18490163	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	15265479	18490163	127873859	717	140023											
FAM160B2	64760	broad.mit.edu	37	chr8	21960331	21960331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagaccctcctccagggCgtggtggtgctggaggagtt	15	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:21960331C>T	uc011kyx.1	+	17	2172	c.2121C>T	c.(2119-2121)GGC>GGT	p.G707G	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	707											0						TCCTCCAGGGCGTGGTGGTGC	0.647													T	21960331	C	T	21960331	2	4	274	1	0	0	0	0	0	0	0	1	5471	755	27	1		1	FAM160B2	8	21960331	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3470168	21960331	124403691	718	140024											
POLR3D	661	broad.mit.edu	37	chr8	22107661	22107661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggcaagctactcatccGcaagtctggaagggtgcaac	13	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:22107661G>A	uc003xbl.2	+	8	1078	c.995G>A	c.(994-996)CGC>CAC	p.R332H	POLR3D_uc003xbm.2_Missense_Mutation_p.R332H|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	332					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				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTACTCATCCGCAAGTCTGGA	0.562													A	22107661	G	A	22107661	3	1	274	1	0	0	0	0	1	0	0	0	12231	1087	38	1	1021	1	POLR3D	8	22107661	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	147330	22107661	124256361	719	140025											
PBK	55872	broad.mit.edu	37	chr8	27668479	27668479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgtattcataccttcAtcatcatcatcatttgaaag	4	8	6	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:27668479A>T	uc003xgi.2	-	7	969	c.768T>A	c.(766-768)GAT>GAA	p.D256E	ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Missense_Mutation_p.D267E	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	PDZ binding kinase	256	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		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)		TCATACCTTCATCATCATCAT	0.299													T	27668479	A	T	27668479	3	4	274	1	0	0	0	0	1	0	0	0	11488	214	8	5	208	5	PBK	8	27668479	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	5560818	27668479	118695543	720	140026											
KIF13B	23303	broad.mit.edu	37	chr8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgtcccgaagactaCgtgtctttgcttggatgatt	9	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:28989840C>T	uc003xhh.3	-	23	2986	c.2927G>A	c.(2926-2928)CGT>CAT	p.R976H	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	976					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.323													T	28989840	C	T	28989840	3	4	274	1	0	0	0	0	1	0	0	0	8275	536	19	1	2625	1	KIF13B	8	28989840	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1321361	28989840	117374182	721	140027											
KIF13B	23303	broad.mit.edu	37	chr8	28991587	28991587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagacaaccatgcagtgCggctccttgctgacggaaga	11	11	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:28991587C>T	uc003xhh.3	-	22	2813	c.2754G>A	c.(2752-2754)CCG>CCA	p.P918P	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	918					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCATGCAGTGCGGCTCCTTGC	0.458													T	28991587	C	T	28991587	2	4	274	1	0	0	0	0	0	0	0	1	8275	755	27	1		1	KIF13B	8	28991587	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1747	28991587	117372435	722	140028											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:38205091_38205091CT>C	uc003xli.3	-	1	1117	c.599_599AG>G	c.(598-600)agcfs	p.S200fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.S200fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.S200fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.S200fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	200					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)			ATGCTTGTTGCTTTTTTTCCT	0.378			T	NUP98	AML								-	38205092	T	-	38205092	7	5	274	1	0	1	0	1	0	0	0	0	17360	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	9213505	38205092	108158930	723	140029											
ADAM2	2515	broad.mit.edu	37	chr8	39644512	39644512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacaacacctcctgcaTagtttgcatcacacatcttc	4	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:39644512T>C	uc003xnj.2	-	10	947	c.872A>G	c.(871-873)TAT>TGT	p.Y291C	ADAM2_uc003xnk.2_Missense_Mutation_p.Y272C|ADAM2_uc011lck.1_Missense_Mutation_p.Y291C|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	291	Extracellular (Potential).|Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		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)		ACCTCCTGCATAGTTTGCATC	0.294													C	39644512	T	C	39644512	3	2	274	1	0	0	0	0	1	0	0	0	241	1406	49	3	1379	3	ADAM2	8	39644512	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1439420	39644512	106719510	724	140030											
MYST3	7994	broad.mit.edu	37	chr8	41791415	41791415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacagtcctggtaggcGccctcatgctcactgctttc	8	16	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:41791415G>A	uc010lxb.2	-	18	4867	c.4323C>T	c.(4321-4323)GGC>GGT	p.G1441G	MYST3_uc010lxc.2_Silent_p.G1441G|MYST3_uc003xon.3_Silent_p.G1441G	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1441					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CCTGGTAGGCGCCCTCATGCT	0.512													A	41791415	G	A	41791415	2	1	274	1	0	0	0	0	0	0	0	1	10104	1074	38	1		1	MYST3	8	41791415	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2146903	41791415	104572607	725	140031											
IKBKB	3551	broad.mit.edu	37	chr8	42179452	42179452	+	Frame_Shift_Del	DEL	A	A	-													gctgtacaggagactaagggAaaaacctcgaggtaagtggg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:42179452delA	uc003xow.1	+	17	1904	c.1727delA	c.(1726-1728)GAAfs	p.E576fs	IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Frame_Shift_Del_p.E353fs|IKBKB_uc003xox.1_Frame_Shift_Del_p.E297fs|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Frame_Shift_Del_p.E574fs|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Frame_Shift_Del_p.E517fs	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	576					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(3)|ovary(2)|lung(1)|skin(1)	7	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)	AGACTAAGGGAAAAACCTCGA	0.413													-	42179452	A	-	42179452	7	5	274	1	0	1	0	1	0	0	0	0	7611	246	9	0	1789	0	IKBKB	8	42179452	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	388037	42179452	104184570	726	140032											
PRKDC	5591	broad.mit.edu	37	chr8	48777241	48777241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggtccacaaaggactggCgtgtgaaacttaggcggggg	17	8	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:48777241C>T	uc003xqi.2	-	42	5504	c.5447G>A	c.(5446-5448)CGC>CAC	p.R1816H	PRKDC_uc003xqj.2_Missense_Mutation_p.R1816H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1816					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGGACTGGCGTGTGAAACT	0.488								NHEJ					T	48777241	C	T	48777241	3	4	274	1	0	0	0	0	1	0	0	0	12521	768	27	1	7123	1	PRKDC	8	48777241	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6597789	48777241	97586781	727	140033											
MOS	4342	broad.mit.edu	37	chr8	57026083	57026083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagggtggccggcggcGccatagatgacttggtgtaa	15	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:57026083G>A	uc011leb.1	-	1	459	c.459C>T	c.(457-459)GGC>GGT	p.G153G		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	153	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGCCGGCGGCGCCATAGATGA	0.587													A	57026083	G	A	57026083	2	1	274	1	0	0	0	0	0	0	0	1	9712	1074	38	1		1	MOS	8	57026083	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8248842	57026083	89337939	728	140034											
CA8	767	broad.mit.edu	37	chr8	61192348	61192348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcggacatccaacagCgaggggtcatacctagcctc	13	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:61192348C>T	uc003xtz.1	-	2	440	c.192G>A	c.(190-192)TCG>TCA	p.S64S	CA8_uc003xua.1_Silent_p.S64S|CA8_uc003xub.2_Silent_p.S64S	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	64					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CATCCAACAGCGAGGGGTCAT	0.473													T	61192348	C	T	61192348	2	4	274	1	0	0	0	0	0	0	0	1	2523	755	27	1		1	CA8	8	61192348	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4166265	61192348	85171674	729	140035											
CHD7	55636	broad.mit.edu	37	chr8	61778057	61778057	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaatgagaatgaagacgaGaacaaagactctgagaaaag	12	4	1	6			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:61778057G>A	uc003xue.2	+	38	9036	c.8559G>A	c.(8557-8559)GAG>GAA	p.E2853E		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2853					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			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			ATGAAGACGAGAACAAAGACT	0.498													A	61778057	G	A	61778057	2	1	274	1	0	0	0	0	0	0	0	1	3330	933	33	4		4	CHD7	8	61778057	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	585709	61778057	84585965	730	140036											
YTHDF3	253943	broad.mit.edu	37	chr8	64099642	64099642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgctgggtagctcctcGtaacaggggagcaggcttca	14	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:64099642G>A	uc003xuy.2	+	5	1389	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	YTHDF3_uc010lys.2_Missense_Mutation_p.R302H|YTHDF3_uc003xuz.2_Missense_Mutation_p.R302H|YTHDF3_uc003xva.2_Missense_Mutation_p.R302H|YTHDF3_uc011len.1_Missense_Mutation_p.R302H	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	358											0	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)			GTAGCTCCTCGTAACAGGGGA	0.547													A	64099642	G	A	64099642	3	1	274	1	0	0	0	0	1	0	0	0	17497	1145	40	1	1086	1	YTHDF3	8	64099642	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2321585	64099642	82264380	731	140037											
YTHDF3	253943	broad.mit.edu	37	chr8	64099819	64099819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaatctgaagaatggacGtgtgtttataattaaaagct	10	3	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:64099819G>A	uc003xuy.2	+	5	1566	c.1250G>A	c.(1249-1251)CGT>CAT	p.R417H	YTHDF3_uc010lys.2_Missense_Mutation_p.R361H|YTHDF3_uc003xuz.2_Missense_Mutation_p.R361H|YTHDF3_uc003xva.2_Missense_Mutation_p.R361H|YTHDF3_uc011len.1_Missense_Mutation_p.R361H	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	417	YTH.										0	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)			AAGAATGGACGTGTGTTTATA	0.393													A	64099819	G	A	64099819	3	1	274	1	0	0	0	0	1	0	0	0	17497	1145	40	1	1263	1	YTHDF3	8	64099819	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	177	64099819	82264203	732	140038											
MTFR1	9650	broad.mit.edu	37	chr8	66619297	66619297	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacaccctccacctccCccaccgcccctgcctccccc	2	30	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:66619297C>A	uc003xvm.2	+	6	782	c.570C>A	c.(568-570)CCC>CCA	p.P190P	MTFR1_uc011lep.1_Silent_p.P190P|MTFR1_uc003xvn.2_Silent_p.P157P|MTFR1_uc003xvo.1_Silent_p.P180P	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	190	Pro-rich.					mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CTCCACCTCCCCCACCGCCCC	0.478													A	66619297	C	A	66619297	2	1	274	1	0	0	0	0	0	0	0	1	9925	610	22	5		5	MTFR1	8	66619297	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2519478	66619297	79744725	733	140039											
TRIM55	84675	broad.mit.edu	37	chr8	67040642	67040642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggttttggatagacatgGggtatatggacttcagagga	15	3	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67040642G>A	uc003xvv.2	+	2	498	c.272G>A	c.(271-273)GGG>GAG	p.G91E	TRIM55_uc003xvu.2_Missense_Mutation_p.G91E|TRIM55_uc003xvw.2_Missense_Mutation_p.G91E|TRIM55_uc003xvx.2_Missense_Mutation_p.G91E	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	91						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		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)			GATAGACATGGGGTATATGGA	0.498													A	67040642	G	A	67040642	3	1	274	1	0	0	0	0	1	0	0	0	16526	1232	43	4	278	4	TRIM55	8	67040642	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	421345	67040642	79323380	734	140040											
VCPIP1	80124	broad.mit.edu	37	chr8	67546767	67546767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattggctcagttgtgttaGtcatctcagcatcttgacta	8	10	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67546767G>T	uc003xwn.2	-	3	3897	c.3638C>A	c.(3637-3639)ACT>AAT	p.T1213N		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1213					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		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)			AGTTGTGTTAGTCATCTCAGC	0.433													T	67546767	G	T	67546767	3	4	274	1	0	0	0	0	1	0	0	0	17138	1029	36	5	34	5	VCPIP1	8	67546767	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	506125	67546767	78817255	735	140041											
SGK3	23678	broad.mit.edu	37	chr8	67716612	67716612	+	Splice_Site	DEL	A	A	-													tatttttaaaaattttagttAaaaaaacagtttcctgctat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67716611_67716611TA>T	uc003xwp.3	+	6	812	c.181_splice	c.e6-1	p.L61_splice	SGK3_uc003xwr.3_Splice_Site_p.L61_splice|SGK3_uc003xwt.3_Splice_Site_p.L61_splice|SGK3_uc003xwu.3_Splice_Site_p.L61_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	61	PX.				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)			aaattttagttaaaaaaaCAG	0.299													-	67716612	A	-	67716612	8	5	274	1	0	1	0	1	0	0	1	0	14212	359	13	0	193	0	SGK3	8	67716612	Splice_Site	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	169845	67716612	78647410	736	140042											
C8orf45	157777	broad.mit.edu	37	chr8	67809147	67809147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccattaatcctgaagggCtgttttatgcggcttctaga	10	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:67809147C>T	uc003xwz.3	+	12	1750	c.1579C>T	c.(1579-1581)CTG>TTG	p.L527L	C8orf45_uc011lev.1_Silent_p.L527L|C8orf45_uc011lew.1_Silent_p.L458L|C8orf45_uc011lex.1_Silent_p.L285L|C8orf45_uc003xwy.3_Silent_p.L527L	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	527					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCTGAAGGGCTGTTTTATGC	0.413													T	67809147	C	T	67809147	2	4	274	1	0	0	0	0	0	0	0	1	2430	796	28	2		2	C8orf45	8	67809147	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	92535	67809147	78554875	737	140043											
CSPP1	79848	broad.mit.edu	37	chr8	68028332	68028332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcagtggactcagcagcGcccttggtgaaatggtgtct	14	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:68028332G>A	uc003xxi.2	+	13	1592	c.1561G>A	c.(1561-1563)GCC>ACC	p.A521T	CSPP1_uc003xxg.1_Missense_Mutation_p.A513T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A486T|CSPP1_uc003xxk.2_Missense_Mutation_p.A192T	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	521	Pro-rich.					centrosome|microtubule|spindle				ovary(3)|breast(2)	5	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)			ACTCAGCAGCGCCCTTGGTGA	0.443													A	68028332	G	A	68028332	3	1	274	1	0	0	0	0	1	0	0	0	3962	1087	38	1	1611	1	CSPP1	8	68028332	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	219185	68028332	78335690	738	140044											
PREX2	80243	broad.mit.edu	37	chr8	68965434	68965434	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaacacctgaagagaAgcatgaatggtttgaagcta	11	6	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:68965434A>T	uc003xxv.1	+	9	1073	c.1046A>T	c.(1045-1047)AAG>ATG	p.K349M	PREX2_uc003xxu.1_Missense_Mutation_p.K349M|PREX2_uc011lez.1_Missense_Mutation_p.K284M	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	349	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CCTGAAGAGAAGCATGAATGG	0.383													T	68965434	A	T	68965434	3	4	274	1	0	0	0	0	1	0	0	0	12477	72	3	5	1080	5	PREX2	8	68965434	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	937102	68965434	77398588	739	140045											
PREX2	80243	broad.mit.edu	37	chr8	68992721	68992722	+	Frame_Shift_Ins	INS	-	-	T													atgaacccctacttttccgtINStttttttcggatgaggaaat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:68992720_68992721G>GT	uc003xxv.1	+	15	1712_1713	c.1685_1686G>GT	c.(1684-1686)cgtfs	p.R562fs	PREX2_uc003xxu.1_Frame_Shift_Ins_p.R562fs|PREX2_uc011lez.1_Frame_Shift_Ins_p.R497fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						CTACTTTTCCGTTTTTTTTCGG	0.332													T	68992722	-	T	68992721	7	5	274	1	0	1	1	0	0	0	0	0	12477	1712	60	0	1748	0	PREX2	8	68992721	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	27287	68992721	77371301	740	140046											
SULF1	23213	broad.mit.edu	37	chr8	70533326	70533326	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaattcacaagtgtaaaggAcccagtgacctgctcacagt	9	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:70533326A>C	uc010lza.1	+	14	2151	c.1434A>C	c.(1432-1434)GGA>GGC	p.G478G	SULF1_uc003xyd.2_Silent_p.G478G|SULF1_uc003xye.2_Silent_p.G478G|SULF1_uc003xyf.2_Silent_p.G478G|SULF1_uc003xyg.2_Silent_p.G478G|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	478					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGTGTAAAGGACCCAGTGACC	0.517													C	70533326	A	C	70533326	2	2	274	1	0	0	0	0	0	0	0	1	15369	262	10	5		5	SULF1	8	70533326	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1540605	70533326	75830696	741	140047											
JPH1	56704	broad.mit.edu	37	chr8	75227608	75227608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccctccggaagaggccGcccttcttcttgcccgctag	11	17	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:75227608G>A	uc003yae.2	-	2	667	c.627C>T	c.(625-627)GGC>GGT	p.G209G	JPH1_uc003yaf.2_Silent_p.G209G|JPH1_uc003yag.1_Silent_p.G73G	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	209	Cytoplasmic (Potential).				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				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAAGAGGCCGCCCTTCTTCT	0.652													A	75227608	G	A	75227608	2	1	274	1	0	0	0	0	0	0	0	1	7960	1074	38	1		1	JPH1	8	75227608	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4694282	75227608	71136414	742	140048											
JPH1	56704	broad.mit.edu	37	chr8	75227780	75227780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgagcggatcaccgtgGccatgccgtagggcacgctc	16	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:75227780G>A	uc003yae.2	-	2	495	c.455C>T	c.(454-456)GCC>GTC	p.A152V	JPH1_uc003yaf.2_Missense_Mutation_p.A152V|JPH1_uc003yag.1_Missense_Mutation_p.A16V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	152	Cytoplasmic (Potential).				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				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GATCACCGTGGCCATGCCGTA	0.697													A	75227780	G	A	75227780	3	1	274	1	0	0	0	0	1	0	0	0	7960	1203	42	2	1546	2	JPH1	8	75227780	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	172	75227780	71136242	743	140049											
CHMP4C	92421	broad.mit.edu	37	chr8	82644967	82644967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggagactgaggagatgCtgggcaagaaacaagagtac	15	6	0	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:82644967C>T	uc003ycl.2	+	1	280	c.106C>T	c.(106-108)CTG>TTG	p.L36L		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	36	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2						TGAGGAGATGCTGGGCAAGAA	0.577													T	82644967	C	T	82644967	2	4	274	1	0	0	0	0	0	0	0	1	3358	796	28	2		2	CHMP4C	8	82644967	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7417187	82644967	63719055	744	140050											
CA1	759	broad.mit.edu	37	chr8	86250524	86250525	+	Frame_Shift_Ins	INS	-	-	C													aatttacatggaaggaatgcINScccacattgataatttcttt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:86250523_86250524G>GC	uc022axc.1	-	1	271_272	c.192_193C>GC	c.(190-195)gggcatfs	p.G64fs	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Frame_Shift_Ins_p.G64fs|CA1_uc022axd.1_Frame_Shift_Ins_p.G64fs|CA1_uc010mae.2_Frame_Shift_Ins_p.G64fs|CA1_uc003ydi.3_Frame_Shift_Ins_p.G64fs	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	64					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)	TGGAAGGAATGCCCCACATTGA	0.386													C	86250525	-	C	86250524	7	5	274	1	0	1	1	0	0	0	0	0	2510	726	26	0	617	0	CA1	8	86250524	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	3605557	86250524	60113498	745	140051											
MMP16	4325	broad.mit.edu	37	chr8	89053979	89053979	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaccttgagtatctggtTgttgaatttccaatactcct	6	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:89053979T>G	uc003yeb.3	-	10	1816	c.1534A>C	c.(1534-1536)AAC>CAC	p.N512H		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	512	Hemopexin-like 4.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						AGTATCTGGTTGTTGAATTTC	0.418													G	89053979	T	G	89053979	3	3	274	1	0	0	0	0	1	0	0	0	9655	1812	63	5	293	5	MMP16	8	89053979	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2803455	89053979	57310043	746	140052											
OSGIN2	734	broad.mit.edu	37	chr8	90937611	90937611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagtgtattaaagaaGccaacctttttgcattgggt	9	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:90937611G>T	uc003yeg.2	+	6	1715	c.1369G>T	c.(1369-1371)GCC>TCC	p.A457S	OSGIN2_uc003yeh.2_Missense_Mutation_p.A501S	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	457					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TATTAAAGAAGCCAACCTTTT	0.428													T	90937611	G	T	90937611	3	4	274	1	0	0	0	0	1	0	0	0	11290	971	34	5	1523	5	OSGIN2	8	90937611	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1883632	90937611	55426411	747	140053											
RUNX1T1	862	broad.mit.edu	37	chr8	93004021	93004021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtaggataagccgttAtttggactgtaccgctggcc	14	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:93004021A>G	uc003yfd.2	-	6	921	c.837T>C	c.(835-837)AAT>AAC	p.N279N	RUNX1T1_uc003yfc.1_Silent_p.N252N|RUNX1T1_uc003yfe.1_Silent_p.N242N|RUNX1T1_uc010mao.2_Silent_p.N252N|RUNX1T1_uc011lgi.1_Silent_p.N290N|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.N242N	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	279					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATAAGCCGTTATTTGGACTGT	0.522													G	93004021	A	G	93004021	2	3	274	1	0	0	0	0	0	0	0	1	13747	446	16	3		3	RUNX1T1	8	93004021	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2066410	93004021	53360001	748	140054											
RBM12B	389677	broad.mit.edu	37	chr8	94745991	94745991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaaattcacaaaagggCggtgacttctaaaatcatca	7	9	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:94745991C>T	uc003yfz.2	-	3	2841	c.2648G>A	c.(2647-2649)CGC>CAC	p.R883H		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	883							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CACAAAAGGGCGGTGACTTCT	0.468													T	94745991	C	T	94745991	3	4	274	1	0	0	0	0	1	0	0	0	13114	768	27	1	361	1	RBM12B	8	94745991	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1741970	94745991	51618031	749	140055											
GDF6	392255	broad.mit.edu	37	chr8	97157302	97157302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgcgaacaggttcttgCgctgggatctggtgaatacc	12	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:97157302C>T	uc003yhp.2	-	2	957	c.857G>A	c.(856-858)CGC>CAC	p.R286H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	286					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			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CAGGTTCTTGCGCTGGGATCT	0.527													T	97157302	C	T	97157302	3	4	274	1	0	0	0	0	1	0	0	0	6317	768	27	1	514	1	GDF6	8	97157302	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2411311	97157302	49206720	750	140056											
MATN2	4147	broad.mit.edu	37	chr8	99015935	99015935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgtgagcatgagtgCgtcaacatggaggagagcta	16	8	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:99015935C>T	uc003yic.2	+	8	1482	c.1251C>T	c.(1249-1251)TGC>TGT	p.C417C	MATN2_uc003yib.1_Silent_p.C417C|MATN2_uc010mbh.1_Silent_p.C376C|MATN2_uc003yid.2_Silent_p.C417C|MATN2_uc003yie.1_Silent_p.C417C|MATN2_uc010mbi.1_Silent_p.C250C	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	417	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGCATGAGTGCGTCAACATGG	0.587													T	99015935	C	T	99015935	2	4	274	1	0	0	0	0	0	0	0	1	9334	776	27	1		1	MATN2	8	99015935	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1858633	99015935	47348087	751	140057											
KCNS2	3788	broad.mit.edu	37	chr8	99440303	99440303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagaggaggctgcgctcGcacacgctgctgcgcttccc	12	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:99440303G>A	uc003yin.2	+	2	446	c.96G>A	c.(94-96)TCG>TCA	p.S32S		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	32	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGCTGCGCTCGCACACGCTGC	0.667													A	99440303	G	A	99440303	2	1	274	1	0	0	0	0	0	0	0	1	8089	1074	38	1		1	KCNS2	8	99440303	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	424368	99440303	46923719	752	140058											
VPS13B	157680	broad.mit.edu	37	chr8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-													gaactgaaattaccattcacTtttttaagtggacatattca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:100050670_100050670CT>C	uc003yiv.3	+	2	278	c.167_167CT>C	c.(166-168)actfs	p.T56fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	56					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)			TTACCATTCACTTTTTTAAGT	0.269													-	100050671	T	-	100050671	7	5	274	1	0	1	0	1	0	0	0	0	17187	1596	56	0	174	0	VPS13B	8	100050671	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	610368	100050671	46313351	753	140059											
RGS22	26166	broad.mit.edu	37	chr8	101011503	101011503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatacctttatcttctgaCgtgctgcaaactgttcactt	5	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:101011503C>T	uc003yjb.1	-	19	3131	c.2936G>A	c.(2935-2937)CGT>CAT	p.R979H	RGS22_uc003yja.1_Missense_Mutation_p.R798H|RGS22_uc003yjc.1_Missense_Mutation_p.R967H	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	979	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATCTTCTGACGTGCTGCAAA	0.239													T	101011503	C	T	101011503	3	4	274	1	0	0	0	0	1	0	0	0	13305	536	19	1	894	1	RGS22	8	101011503	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	960832	101011503	45352519	754	140060											
UBR5	51366	broad.mit.edu	37	chr8	103274146	103274146	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatatttgctttacctgTcctccaccttcttctttaca	4	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103274146T>C	uc003ykr.1	-	55	7872	c.7839A>G	c.(7837-7839)GGA>GGG	p.G2613G	UBR5_uc003yks.1_Silent_p.G2612G|UBR5_uc003ykq.2_Silent_p.G124G	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2613	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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			GCTTTACCTGTCCTCCACCTT	0.403													C	103274146	T	C	103274146	2	2	274	1	0	0	0	0	0	0	0	1	16902	1654	58	3		3	UBR5	8	103274146	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2262643	103274146	43089876	755	140061											
UBR5	51366	broad.mit.edu	37	chr8	103282387	103282387	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtctaaagggcctagtgtcGatggaaagctgtcttctaaa	12	7	3	0	rs140195197		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103282387G>A	uc003ykr.1	-	50	7143	c.7110C>T	c.(7108-7110)ATC>ATT	p.I2370I	UBR5_uc003yks.1_Silent_p.I2370I|UBR5_uc003ykq.2_5'Flank	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2370					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			GCCTAGTGTCGATGGAAAGCT	0.428													A	103282387	G	A	103282387	2	1	274	1	0	0	0	0	0	0	0	1	16902	1048	37	1		1	UBR5	8	103282387	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8241	103282387	43081635	756	140062											
UBR5	51366	broad.mit.edu	37	chr8	103289349	103289350	+	Frame_Shift_Ins	INS	-	-	T													cgggctgttcttccccttctINStttttttgccggttttgcat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103289348_103289349C>CT	uc003ykr.2	-	44	6815_6816	c.6360_6361G>AG	c.(6358-6363)aaagaafs	p.K2120fs	UBR5_uc003yks.2_Frame_Shift_Ins_p.K2120fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2120					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	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(4)		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)			TCTTCCCCTTCTTTTTTTTGCC	0.381													T	103289350	-	T	103289349	7	5	274	1	0	1	1	0	0	0	0	0	16902	1606	56	0	2099	0	UBR5	8	103289349	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	6962	103289349	43074673	757	140063											
UBR5	51366	broad.mit.edu	37	chr8	103310701	103310701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagctgacataaatggggTcatccctcttgcatccctaa	7	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:103310701T>G	uc003ykr.1	-	26	3376	c.3343A>C	c.(3343-3345)ACC>CCC	p.T1115P	UBR5_uc003yks.1_Missense_Mutation_p.T1115P	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1115					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			ATAAATGGGGTCATCCCTCTT	0.303													G	103310701	T	G	103310701	3	3	274	1	0	0	0	0	1	0	0	0	16902	1667	58	5	5192	5	UBR5	8	103310701	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	21352	103310701	43053321	758	140064											
FZD6	8323	broad.mit.edu	37	chr8	104337204	104337204	+	Frame_Shift_Del	DEL	T	T	-													gttttgttcatgcttttgtaTtttttcacaatggctggcac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:104337203_104337203AT>A	uc003ylh.3	+	3	1159	c.869_869AT>A	c.(868-870)tatfs	p.Y290fs	FZD6_uc011lhn.2_Frame_Shift_Del_p.Y258fs|FZD6_uc003ylj.3_Frame_Shift_Del_p.Y290fs|FZD6_uc011lho.2_Intron|FZD6_uc011lhp.2_Frame_Shift_Del_p.Y235fs	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	290					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|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	p.Y290H(1)		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)			ATGCTTTTGTATTTTTTCACA	0.438													-	104337204	T	-	104337204	7	5	274	1	0	1	0	1	0	0	0	0	6134	1500	52	0	880	0	FZD6	8	104337204	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	1026503	104337204	42026818	759	140065											
DCAF13	25879	broad.mit.edu	37	chr8	104447873	104447873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatatacttttgatatgCgtgcactggacactcctgta	8	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:104447873C>T	uc003yln.2	+	8	1538	c.1261C>T	c.(1261-1263)CGT>TGT	p.R421C	DCAF13_uc003ylm.1_Missense_Mutation_p.R154C|DCAF13_uc003ylo.2_Missense_Mutation_p.R132C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	269	WD 5.				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						TTTTGATATGCGTGCACTGGA	0.368													T	104447873	C	T	104447873	3	4	274	1	0	0	0	0	1	0	0	0	4266	768	27	1	1291	1	DCAF13	8	104447873	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	110669	104447873	41916149	760	140066											
RIMS2	9699	broad.mit.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	10	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:104898096T>G	uc003yls.2	+	2	844	c.603T>G	c.(601-603)TCT>TCG	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)			G	104898096	T	G	104898096	2	3	274	1	0	0	0	0	0	0	0	1	13368	1596	56	5		5	RIMS2	8	104898096	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	450223	104898096	41465926	761	140067											
ZFPM2	23414	broad.mit.edu	37	chr8	106573666	106573666	+	Frame_Shift_Del	DEL	G	G	-													acttccagtgggaacaacctGggggccgtttcctgggaaga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:106573665_106573665TG>T	uc003ymd.3	+	3	399	c.376_376TG>T	c.(376-378)tggfs	p.W126fs		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	126					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	p.W126L(1)		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)			GGGAACAACCTGGGGGCCGTT	0.433													-	106573666	G	-	106573666	7	5	274	1	0	1	0	1	0	0	0	0	17655	1357	47	0	391	0	ZFPM2	8	106573666	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	1675570	106573666	39790356	762	140068											
CSMD3	114788	broad.mit.edu	37	chr8	113988259	113988259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctatggatggtgacagcTgtaacactggatacagtaac	11	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:113988259T>C	uc003ynu.2	-	7	1308	c.1149A>G	c.(1147-1149)ACA>ACG	p.T383T	CSMD3_uc003ynt.2_Silent_p.T343T|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	383	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TGGTGACAGCTGTAACACTGG	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113988259	T	C	113988259	2	2	274	1	0	0	0	0	0	0	0	1	3946	1567	55	3		3	CSMD3	8	113988259	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	7414593	113988259	32375763	763	140069											
TRPS1	7227	broad.mit.edu	37	chr8	116631441	116631441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaacacagaacggttgAccttctggaagtctttggaa	10	8	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:116631441A>G	uc003ynz.2	-	2	1304	c.845T>C	c.(844-846)GTC>GCC	p.V282A	TRPS1_uc011lhy.1_Missense_Mutation_p.V286A|TRPS1_uc003yny.2_Missense_Mutation_p.V295A|TRPS1_uc010mcy.2_Missense_Mutation_p.V282A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	282					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			AGAACGGTTGACCTTCTGGAA	0.463									Langer-Giedion_syndrome				G	116631441	A	G	116631441	3	3	274	1	0	0	0	0	1	0	0	0	16590	275	10	3	3020	3	TRPS1	8	116631441	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2643182	116631441	29732581	764	140070											
SLC30A8	169026	broad.mit.edu	37	chr8	118169969	118169969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcctgtgcatctgggTggtgactggcgtgctagtgt	14	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:118169969T>C	uc003yoh.2	+	4	688	c.458T>C	c.(457-459)GTG>GCG	p.V153A	SLC30A8_uc010mcz.2_Missense_Mutation_p.V104A|SLC30A8_uc011lia.1_Missense_Mutation_p.V104A|SLC30A8_uc003yog.2_Missense_Mutation_p.V104A	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	153	Helical; (Potential).				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			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCATCTGGGTGGTGACTGGC	0.527													C	118169969	T	C	118169969	3	2	274	1	0	0	0	0	1	0	0	0	14561	1696	59	3	472	3	SLC30A8	8	118169969	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1538528	118169969	28194053	765	140071											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936808	119936808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcaaggtgtcttggtcGccattttttattcgccacaa	7	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:119936808G>A	uc003yon.3	-	5	1334	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G		NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	337	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	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)			TGTCTTGGTCGCCATTTTTTA	0.448													A	119936808	G	A	119936808	2	1	274	1	0	0	0	0	0	0	0	1	16282	1074	38	1		1	TNFRSF11B	8	119936808	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1766839	119936808	26427214	766	140072											
ENPP2	5168	broad.mit.edu	37	chr8	120613700	120613700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgctcgtgagggatgAcactggagggtaaaagcaag	14	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:120613700A>G	uc003yot.1	-	10	922	c.836T>C	c.(835-837)GTC>GCC	p.V279A	ENPP2_uc003yos.1_Missense_Mutation_p.V279A|ENPP2_uc010mdd.1_Missense_Mutation_p.V279A	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	279					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			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGAGGGATGACACTGGAGGG	0.458													G	120613700	A	G	120613700	3	3	274	1	0	0	0	0	1	0	0	0	5130	275	10	3	2058	3	ENPP2	8	120613700	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	676892	120613700	25750322	767	140073											
MRPL13	28998	broad.mit.edu	37	chr8	121426273	121426273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctatttcttcttgtgtgtActcatctagacgtttaggta	8	7	5	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:121426273A>G	uc003ypa.2	-	6	785	c.472T>C	c.(472-474)TAC>CAC	p.Y158H	MRPL13_uc010mdf.2_RNA	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	158					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)	1	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTTGTGTGTACTCATCTAGA	0.313													G	121426273	A	G	121426273	3	3	274	1	0	0	0	0	1	0	0	0	9778	391	14	3	72	3	MRPL13	8	121426273	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	812573	121426273	24937749	768	140074											
FBXO32	114907	broad.mit.edu	37	chr8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatgaagttcttttgggCgatgccactcagggatgtga	12	7	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:124526525C>T	uc003yqr.2	-	5	613	c.421G>A	c.(421-423)GCC>ACC	p.A141T	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Intron	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	141										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448													T	124526525	C	T	124526525	3	4	274	1	0	0	0	0	1	0	0	0	5742	768	27	1	666	1	FBXO32	8	124526525	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3100252	124526525	21837497	769	140075											
ASAP1	50807	broad.mit.edu	37	chr8	131226856	131226856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtagaaaacttgacaaaCgcggtgccaaggtcggggtt	14	7	0	3	rs141635397		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:131226856C>T	uc003yta.1	-	4	379	c.351G>A	c.(349-351)GCG>GCA	p.A117A	ASAP1_uc011liw.1_Silent_p.A110A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	117					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			ovary(4)	4						ACTTGACAAACGCGGTGCCAA	0.363													T	131226856	C	T	131226856	2	4	274	1	0	0	0	0	0	0	0	1	1010	523	19	1		1	ASAP1	8	131226856	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6700331	131226856	15137166	770	140076											
TG	7038	broad.mit.edu	37	chr8	133898733	133898733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaaaggcagcaggccttGtccagactctactttgggac	11	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:133898733G>A	uc003ytw.2	+	9	1157	c.1116G>A	c.(1114-1116)TTG>TTA	p.L372L		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	372					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		AGCAGGCCTTGTCCAGACTCT	0.502													A	133898733	G	A	133898733	2	1	274	1	0	0	0	0	0	0	0	1	15810	1368	48	4		4	TG	8	133898733	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2671877	133898733	12465289	771	140077											
TG	7038	broad.mit.edu	37	chr8	133899503	133899503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaagctatgaggatgTccaatgcttttccggagagt	13	6	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:133899503T>C	uc003ytw.2	+	9	1927	c.1886T>C	c.(1885-1887)GTC>GCC	p.V629A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	629	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		TATGAGGATGTCCAATGCTTT	0.532													C	133899503	T	C	133899503	3	2	274	1	0	0	0	0	1	0	0	0	15810	1667	58	3	1920	3	TG	8	133899503	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	770	133899503	12464519	772	140078											
DENND3	22898	broad.mit.edu	37	chr8	142185496	142185496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgccatgacccagaagcgcCtgttcctcctaaccgaagga	9	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:142185496C>A	uc003yvy.2	+	14	2511	c.2233C>A	c.(2233-2235)CTG>ATG	p.L745M	DENND3_uc010mep.2_Missense_Mutation_p.L706M|DENND3_uc003yvz.1_Missense_Mutation_p.L429M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	745										ovary(1)	1	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)			CCAGAAGCGCCTGTTCCTCCT	0.532											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	142185496	C	A	142185496	3	1	274	1	0	0	0	0	1	0	0	0	4432	680	24	5	2283	5	DENND3	8	142185496	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8285993	142185496	4178526	773	140079											
SLC45A4	57210	broad.mit.edu	37	chr8	142222546	142222546	+	Frame_Shift_Del	DEL	C	C	-													tccccacggcgtcgaccacgCccccaagggcagaggccacc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:142222545_142222545GC>G	uc003ywd.1	-	6	2207	c.1899_1899GC>C	c.(1897-1899)ggcfs	p.G633fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.G633fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.G631fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	684					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)			CGTCGACCACGCCCCCAAGGG	0.617													-	142222546	C	-	142222546	7	5	274	1	0	1	0	1	0	0	0	0	14643	739	26	0	506	0	SLC45A4	8	142222546	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	37050	142222546	4141476	774	140080											
FLJ43860	389690	broad.mit.edu	37	chr8	142487536	142487536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgtgcatggcctgctggCgactccgcgtgcacagagtg	15	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:142487536C>T	uc003ywi.2	-	12	1493	c.1412G>A	c.(1411-1413)CGC>CAC	p.R471H	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	471							binding	p.R471H(1)			0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			GGCCTGCTGGCGACTCCGCGT	0.652													T	142487536	C	T	142487536	3	4	274	1	0	0	0	0	1	0	0	0	5930	768	27	1	2620	1	FLJ43860	8	142487536	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	264990	142487536	3876486	775	140081											
ZC3H3	23144	broad.mit.edu	37	chr8	144620691	144620691	+	Frame_Shift_Del	DEL	G	G	-													ggtcctgaggccggtctggcGgggccccccactgagccaga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:144620690_144620690CG>C	uc003yyd.2	-	1	876	c.847_847CG>G	c.(847-849)gccfs	p.A283fs		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	283					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)			GCCGGTCTGGCGGGGCCCCCC	0.617													-	144620691	G	-	144620691	7	5	274	1	0	1	0	1	0	0	0	0	17566	1103	39	0	2044	0	ZC3H3	8	144620691	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	2133155	144620691	1743331	776	140082											
GPR172A	79581	broad.mit.edu	37	chr8	145584466	145584466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgtccccctcaggtgCtgtcgtgggtgctgtgtctt	14	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:145584466C>A	uc003zcc.1	+	5	1286	c.1129C>A	c.(1129-1131)CTG>ATG	p.L377M	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.L377M|GPR172A_uc003zce.1_Missense_Mutation_p.L377M|GPR172A_uc010mfy.1_Missense_Mutation_p.L377M|GPR172A_uc003zcf.1_Missense_Mutation_p.L377M|GPR172A_uc011llc.1_Missense_Mutation_p.L289M	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	377	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	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)			CCCTCAGGTGCTGTCGTGGGT	0.672													A	145584466	C	A	145584466	3	1	274	1	0	0	0	0	1	0	0	0	6669	796	28	5	1143	5	GPR172A	8	145584466	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	963775	145584466	779556	777	140083											
RECQL4	9401	broad.mit.edu	37	chr8	145738385	145738385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctctccccacccacgGccccttcctgctccgagggc	9	22	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr8:145738385G>A	uc003zdj.2	-	16	2632	c.2600C>T	c.(2599-2601)GCC>GTC	p.A867V		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	867					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)|lung(1)|skin(1)	4	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)			CCCACCCACGGCCCCTTCCTG	0.667			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				A	145738385	G	A	145738385	3	1	274	1	0	0	0	0	1	0	0	0	13202	1203	42	2	1054	2	RECQL4	8	145738385	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	153919	145738385	625637	778	140084											
VLDLR	7436	broad.mit.edu	37	chr9	2652951	2652951	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacacacgtacccagcagTaagtcagctttgtgtcttta	9	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:2652951T>C	uc003zhk.1	+	18	2983	c.2586_splice	c.e18+2	p.A862_splice	VLDLR_uc003zhl.1_Splice_Site_p.A834_splice|VLDLR_uc003zhm.1_Splice_Site|VLDLR_uc003zhn.1_Splice_Site_p.A793_splice	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a						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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TACCCAGCAGTAAGTCAGCTT	0.453													C	2652951	T	C	2652951	5	2	274	1	0	0	0	0	0	0	1	0	17171	1652	57	3	2658	3	VLDLR	9	2652951	Splice_Site	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08		2652951	138560480	779	140085											
KDM4C	23081	broad.mit.edu	37	chr9	6805761	6805761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagttcaggcagctgGccaacagtggcaagtgagta	15	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:6805761G>T	uc003zkh.2	+	3	887	c.307G>T	c.(307-309)GCC>TCC	p.A103S	KDM4C_uc010mhu.2_Missense_Mutation_p.A125S|KDM4C_uc010mhw.2_Missense_Mutation_p.A103S|KDM4C_uc011lmi.1_Missense_Mutation_p.A103S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.A103S|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.A103S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	103					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			ovary(1)	1						CAGGCAGCTGGCCAACAGTGG	0.418													T	6805761	G	T	6805761	3	4	274	1	0	0	0	0	1	0	0	0	8130	1203	42	5	383	5	KDM4C	9	6805761	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4152810	6805761	134407670	780	140086											
C9orf93	203238	broad.mit.edu	37	chr9	15623310	15623310	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcataagaaagtagaaaaaTtagaaacagaacatatggac	8	4	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:15623310T>A	uc003zmd.2	+	7	1036	c.721T>A	c.(721-723)TTA>ATA	p.L241I	C9orf93_uc010mih.1_Missense_Mutation_p.L241I|C9orf93_uc003zme.2_Missense_Mutation_p.L148I|C9orf93_uc011lmu.1_Missense_Mutation_p.L241I|C9orf93_uc003zmc.2_Missense_Mutation_p.L241I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	241	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AGTAGAAAAATTAGAAACAGA	0.348													A	15623310	T	A	15623310	3	1	274	1	0	0	0	0	1	0	0	0	2506	1490	52	5	743	5	C9orf93	9	15623310	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	8817549	15623310	125590121	781	140087											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504938	18504938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcctactctctgaggCgctgcctgagcagcaagtaa	12	13	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:18504938C>T	uc003zne.3	+	2	302	c.175C>T	c.(175-177)CGC>TGC	p.R59C	ADAMTSL1_uc003znb.2_Missense_Mutation_p.R59C|ADAMTSL1_uc003znc.3_Missense_Mutation_p.R59C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	59	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCTCTGAGGCGCTGCCTGAG	0.612													T	18504938	C	T	18504938	3	4	274	1	0	0	0	0	1	0	0	0	274	768	27	1	181	1	ADAMTSL1	9	18504938	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2881628	18504938	122708493	782	140088											
ELAVL2	1993	broad.mit.edu	37	chr9	23762152	23762152	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcccagagtcaactggTgacgaacagttgttgtttat	11	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:23762152T>G	uc003zpu.2	-	2	356	c.81A>C	c.(79-81)TCA>TCC	p.S27S	ELAVL2_uc003zps.2_Silent_p.S27S|ELAVL2_uc003zpt.2_Silent_p.S27S|ELAVL2_uc003zpv.2_Silent_p.S27S|ELAVL2_uc003zpw.2_Silent_p.S27S	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	27					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGTCAACTGGTGACGAACAGT	0.443													G	23762152	T	G	23762152	2	3	274	1	0	0	0	0	0	0	0	1	5050	1683	59	5		5	ELAVL2	9	23762152	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	5257214	23762152	117451279	783	140089											
C9orf72	203228	broad.mit.edu	37	chr9	27566799	27566799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatagtccatatgtgctgCgatccccattccagtttcca	7	12	0	1	rs145645318		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:27566799C>T	uc003zqq.2	-	2	417	c.320G>A	c.(319-321)CGC>CAC	p.R107H	C9orf72_uc003zqr.1_Missense_Mutation_p.R107H	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	107										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ATATGTGCTGCGATCCCCATT	0.373													T	27566799	C	T	27566799	3	4	274	1	0	0	0	0	1	0	0	0	2495	768	27	1	1169	1	C9orf72	9	27566799	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3804647	27566799	113646632	784	140090											
LINGO2	158038	broad.mit.edu	37	chr9	27950147	27950147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccaagctaagaagccCactgaatgccctgtgtgata	9	12	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:27950147C>T	uc003zqu.1	-	2	717	c.523G>A	c.(523-525)GGG>AGG	p.G175R	LINGO2_uc010mjf.1_Missense_Mutation_p.G175R|LINGO2_uc003zqv.1_Missense_Mutation_p.G175R	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	175	LRR 5.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		CTAAGAAGCCCACTGAATGCC	0.468													T	27950147	C	T	27950147	3	4	274	1	0	0	0	0	1	0	0	0	8815	594	21	4	1301	4	LINGO2	9	27950147	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	383348	27950147	113263284	785	140091											
DDX58	23586	broad.mit.edu	37	chr9	32488855	32488855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttaagatgatgttcacatAtaagcagtgaaacaaaggtt	8	4	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:32488855A>C	uc003zra.2	-	7	988	c.830T>G	c.(829-831)ATA>AGA	p.I277R	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.I232R|DDX58_uc011lnr.1_Missense_Mutation_p.I74R|DDX58_uc010mji.2_Missense_Mutation_p.I206R	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	277	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATGTTCACATATAAGCAGTGA	0.328													C	32488855	A	C	32488855	3	2	274	1	0	0	0	0	1	0	0	0	4375	449	16	5	1995	5	DDX58	9	32488855	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4538708	32488855	108724576	786	140092											
MELK	9833	broad.mit.edu	37	chr9	36583695	36583695	+	Frame_Shift_Del	DEL	A	A	-													tagctataaaaatcatggatAaaaacacactaggggtaagt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:36583694_36583694TA>T	uc003zzn.3	+	2	267	c.129_129TA>T	c.(127-129)gatfs	p.D43fs	MELK_uc022bgq.1_Intron|MELK_uc011lpm.2_Intron|MELK_uc011lpn.2_Frame_Shift_Del_p.D43fs|MELK_uc011lpo.2_Intron|MELK_uc010mll.3_Intron|MELK_uc011lpp.2_Frame_Shift_Del_p.D43fs|MELK_uc010mlm.3_Intron|MELK_uc011lpr.2_Frame_Shift_Del_p.D43fs|MELK_uc011lpq.2_Intron|MELK_uc011lps.2_Intron	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	43	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)			AAATCATGGATAAAAACACAC	0.328													-	36583695	A	-	36583695	7	5	274	1	0	1	0	1	0	0	0	0	9470	363	13	0	136	0	MELK	9	36583695	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	4094840	36583695	104629736	787	140093											
TLE4	7091	broad.mit.edu	37	chr9	82323668	82323668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcagctgctgccgccgcCgctgctgctgctgcctatgg	14	16	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:82323668C>T	uc004ald.2	+	14	2154	c.1305C>T	c.(1303-1305)GCC>GCT	p.A435A	TLE4_uc004alc.2_Silent_p.A410A|TLE4_uc010mpr.2_Silent_p.A289A|TLE4_uc004ale.2_Silent_p.A47A|TLE4_uc011lsq.1_Silent_p.A378A|TLE4_uc010mps.2_Silent_p.A334A|TLE4_uc004alf.2_Silent_p.A349A	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						ctgccgccgccgctgctgctg	0.443													T	82323668	C	T	82323668	2	4	274	1	0	0	0	0	0	0	0	1	15938	639	23	1		1	TLE4	9	82323668	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	45739973	82323668	58889763	788	140094											
NTRK2	4915	broad.mit.edu	37	chr9	87285857	87285857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcctaacagtgtagatcCtgagaacatcaccgaaatgt	10	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:87285857C>A	uc004aoa.1	+	4	1132	c.194C>A	c.(193-195)CCT>CAT	p.P65H	NTRK2_uc004anv.1_Missense_Mutation_p.P65H|NTRK2_uc004any.1_Missense_Mutation_p.P65H|NTRK2_uc004anz.1_Missense_Mutation_p.P65H|NTRK2_uc011lsz.1_Missense_Mutation_p.P65H|NTRK2_uc011lta.1_Missense_Mutation_p.P65H|NTRK2_uc004aob.1_Missense_Mutation_p.P65H|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	65	Extracellular (Potential).				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			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						AGTGTAGATCCTGAGAACATC	0.552										TSP Lung(25;0.17)			A	87285857	C	A	87285857	3	1	274	1	0	0	0	0	1	0	0	0	10707	681	24	5	196	5	NTRK2	9	87285857	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4962189	87285857	53927574	789	140095											
GAS1	2619	broad.mit.edu	37	chr9	89560864	89560864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggctgctcaccacccgcGcccccggtgcgctgctcgtc	12	20	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:89560864G>A	uc004aox.3	-	1	1241	c.831C>T	c.(829-831)GGC>GGT	p.G277G	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	277					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						CACCACCCGCGCCCCCGGTGC	0.761													A	89560864	G	A	89560864	2	1	274	1	0	0	0	0	0	0	0	1	6244	1074	38	1		1	GAS1	9	89560864	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2275007	89560864	51652567	790	140096											
DAPK1	1612	broad.mit.edu	37	chr9	90322206	90322206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaacctggatggcaatgGccaggaggcctatgcctcga	12	11	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:90322206G>A	uc004apc.2	+	26	4358	c.4220G>A	c.(4219-4221)GGC>GAC	p.G1407D	DAPK1_uc004apd.2_Missense_Mutation_p.G1407D|DAPK1_uc011ltg.1_Missense_Mutation_p.G1341D|DAPK1_uc011lth.1_Missense_Mutation_p.G1144D|DAPK1_uc004apg.2_Missense_Mutation_p.G384D	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1407					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GATGGCAATGGCCAGGAGGCC	0.572									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				A	90322206	G	A	90322206	3	1	274	1	0	0	0	0	1	0	0	0	4235	1203	42	2	4318	2	DAPK1	9	90322206	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	761342	90322206	50891225	791	140097											
SEMA4D	10507	broad.mit.edu	37	chr9	92011708	92011708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacacgtaaagggaagtggCgctgagtggctgcagcaccc	14	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:92011708C>T	uc004aqo.1	-	8	930	c.358G>A	c.(358-360)GCC>ACC	p.A120T	SEMA4D_uc011ltm.1_Missense_Mutation_p.A120T|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.A118T	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	120	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						AGGGAAGTGGCGCTGAGTGGC	0.592													T	92011708	C	T	92011708	3	4	274	1	0	0	0	0	1	0	0	0	14034	768	27	1	2844	1	SEMA4D	9	92011708	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1689502	92011708	49201723	792	140098											
SPTLC1	10558	broad.mit.edu	37	chr9	94800620	94800620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaggctggagaaagggaCtcccccaccacttttaatcc	9	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:94800620C>A	uc004arl.1	-	13	1202	c.1164G>T	c.(1162-1164)GAG>GAT	p.E388D	SPTLC1_uc011ltv.1_Missense_Mutation_p.E388D	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	388	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAGAAAGGGACTCCCCCACCA	0.473													A	94800620	C	A	94800620	3	1	274	1	0	0	0	0	1	0	0	0	15122	564	20	5	269	5	SPTLC1	9	94800620	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2788912	94800620	46412811	793	140099											
ECM2	1842	broad.mit.edu	37	chr9	95277103	95277103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttaccgggtcctcctcGtcctcctcatcctcctcacc	4	22	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:95277103G>A	uc004ash.2	-	4	929	c.864C>T	c.(862-864)GAC>GAT	p.D288D	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.D266D|ECM2_uc011lty.1_Silent_p.D288D|ECM2_uc004asg.2_Silent_p.D266D	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	288					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						GGtcctcctcgtcctcctcat	0.418													A	95277103	G	A	95277103	2	1	274	1	0	0	0	0	0	0	0	1	4898	1136	40	1		1	ECM2	9	95277103	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	476483	95277103	45936328	794	140100											
FGD3	89846	broad.mit.edu	37	chr9	95768399	95768399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaactttgaccgagccgtAgggctggtgagcacgtggac	15	9	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:95768399A>G	uc004asw.2	+	6	1402	c.774A>G	c.(772-774)GTA>GTG	p.V258V	FGD3_uc004asx.2_Silent_p.V258V|FGD3_uc004asz.2_Silent_p.V258V|FGD3_uc004ata.2_Silent_p.V61V	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	258	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|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						ACCGAGCCGTAGGGCTGGTGA	0.582													G	95768399	A	G	95768399	2	3	274	1	0	0	0	0	0	0	0	1	5834	407	15	3		3	FGD3	9	95768399	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	491296	95768399	45445032	795	140101											
ZNF169	169841	broad.mit.edu	37	chr9	97062645	97062645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgtcctgagtgtgggCgtcggtttagccagaaggcc	15	10	0	2	rs10993152		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:97062645C>T	uc004aum.1	+	5	910	c.805C>T	c.(805-807)CGT>TGT	p.R269C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	269	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				TGAGTGTGGGCGTCGGTTTAG	0.572													T	97062645	C	T	97062645	3	4	274	1	0	0	0	0	1	0	0	0	17739	768	27	1	819	1	ZNF169	9	97062645	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1294246	97062645	44150786	796	140102											
ZNF169	169841	broad.mit.edu	37	chr9	97063480	97063480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcatttgcgatgaatGtgggcgcggctttggcttta	14	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:97063480G>A	uc004aum.1	+	5	1745	c.1640G>A	c.(1639-1641)TGT>TAT	p.C547Y		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	547	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				TGCGATGAATGTGGGCGCGGC	0.552													A	97063480	G	A	97063480	3	1	274	1	0	0	0	0	1	0	0	0	17739	1377	48	4	1654	4	ZNF169	9	97063480	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	835	97063480	44149951	797	140103											
FAM22F	54754	broad.mit.edu	37	chr9	97084510	97084510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcgtagaagatcatcCggtcaaagttgctcgtgtgc	10	11	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:97084510C>T	uc004aup.1	-	3	836	c.815G>A	c.(814-816)CGG>CAG	p.R272Q		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	272											0		Acute lymphoblastic leukemia(62;0.136)				GAAGATCATCCGGTCAAAGTT	0.647													T	97084510	C	T	97084510	3	4	274	1	0	0	0	0	1	0	0	0	5545	652	23	1	1475	1	FAM22F	9	97084510	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	21030	97084510	44128921	798	140104											
C9orf102	375748	broad.mit.edu	37	chr9	98728971	98728971	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaatttaggtcccaagggtCttgtcttacgaaggacatcc	9	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:98728971C>T	uc004avt.3	+	14	2496	c.2108C>T	c.(2107-2109)TCT>TTT	p.S703F	C9orf102_uc011lum.1_Missense_Mutation_p.S405F|C9orf102_uc010mry.1_Missense_Mutation_p.S405F|C9orf102_uc010mrz.2_Missense_Mutation_p.S514F|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	703					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TCCCAAGGGTCTTGTCTTACG	0.373													T	98728971	C	T	98728971	3	4	274	1	0	0	0	0	1	0	0	0	2445	913	32	4	2162	4	C9orf102	9	98728971	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1644461	98728971	42484460	799	140105											
SLC35D2	11046	broad.mit.edu	37	chr9	99107622	99107622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtataaactccatttgctgCtgtgaagatatcattcagga	9	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:99107622C>T	uc004awc.2	-	7	626	c.550G>A	c.(550-552)GCA>ACA	p.A184T	SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Missense_Mutation_p.A137T|SLC35D2_uc010msf.2_Intron|SLC35D2_uc004awd.2_Intron	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2	184	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				CCATTTGCTGCTGTGAAGATA	0.408													T	99107622	C	T	99107622	3	4	274	1	0	0	0	0	1	0	0	0	14582	797	28	2	487	2	SLC35D2	9	99107622	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	378651	99107622	42105809	800	140106											
KIAA1529	57653	broad.mit.edu	37	chr9	100080790	100080790	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catactcccccggctgtgacGaaggagctagaggtcatgct	12	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100080790G>A	uc011lut.1	+	22	2327	c.1554G>A	c.(1552-1554)ACG>ACA	p.T518T	KIAA1529_uc004axe.1_Silent_p.T518T|KIAA1529_uc004axg.1_Silent_p.T379T|KIAA1529_uc011lus.1_Silent_p.T336T|KIAA1529_uc010msm.1_Intron|KIAA1529_uc004axf.2_Silent_p.T379T|KIAA1529_uc011luv.1_Silent_p.T376T	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CGGCTGTGACGAAGGAGCTAG	0.592													A	100080790	G	A	100080790	2	1	274	1	0	0	0	0	0	0	0	1	8240	1045	37	1		1	KIAA1529	9	100080790	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	973168	100080790	41132641	801	140107											
KIAA1529	57653	broad.mit.edu	37	chr9	100085148	100085148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcatgatgcggatccGcctgctgtatgagaagacat	13	9	0	3	rs151161375	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100085148G>A	uc011lut.1	+	24	2515	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	KIAA1529_uc004axe.1_Missense_Mutation_p.R581H|KIAA1529_uc004axg.1_Missense_Mutation_p.R442H|KIAA1529_uc011lus.1_Missense_Mutation_p.R399H|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.R442H|KIAA1529_uc011luv.1_Missense_Mutation_p.R439H	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				ATGCGGATCCGCCTGCTGTAT	0.537													A	100085148	G	A	100085148	3	1	274	1	0	0	0	0	1	0	0	0	8240	1087	38	1	1800	1	KIAA1529	9	100085148	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4358	100085148	41128283	802	140108											
KIAA1529	57653	broad.mit.edu	37	chr9	100128909	100128909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgacacctttgaccagtgCgccgagaacattagcaaaaa	9	10	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100128909C>T	uc011lut.1	+	43	5438	c.4665C>T	c.(4663-4665)TGC>TGT	p.C1555C	KIAA1529_uc004axe.1_Silent_p.C1361C|KIAA1529_uc004axg.1_Silent_p.C1416C|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.C509C|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				TTGACCAGTGCGCCGAGAACA	0.532													T	100128909	C	T	100128909	2	4	274	1	0	0	0	0	0	0	0	1	8240	776	27	1		1	KIAA1529	9	100128909	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	43761	100128909	41084522	803	140109											
KIAA1529	57653	broad.mit.edu	37	chr9	100137832	100137832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccaaaaccaccctgggCcacctggcggccgtggaagc	11	17	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:100137832C>T	uc011lut.1	+	48	6125	c.5352C>T	c.(5350-5352)GGC>GGT	p.G1784G	KIAA1529_uc004axe.1_Silent_p.G1590G|KIAA1529_uc004axg.1_Silent_p.G1645G|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.G738G	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CCACCCTGGGCCACCTGGCGG	0.587													T	100137832	C	T	100137832	2	4	274	1	0	0	0	0	0	0	0	1	8240	726	26	2		2	KIAA1529	9	100137832	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8923	100137832	41075599	804	140110											
COL15A1	1306	broad.mit.edu	37	chr9	101822204	101822204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtccccctggccctccagGacagccagggcttcccggat	12	17	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:101822204G>A	uc004azb.1	+	36	3577	c.3371G>A	c.(3370-3372)GGA>GAA	p.G1124E		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1124	Triple-helical region 9 (COL9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GGCCCTCCAGGACAGCCAGGG	0.463													A	101822204	G	A	101822204	3	1	274	1	0	0	0	0	1	0	0	0	3672	1174	41	4	3513	4	COL15A1	9	101822204	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1684372	101822204	39391227	805	140111											
NR4A3	8013	broad.mit.edu	37	chr9	102591219	102591219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgtgtgcggggacaacGccgcctgccagcactacggc	15	15	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:102591219G>A	uc004baf.1	+	3	1624	c.895G>A	c.(895-897)GCC>ACC	p.A299T	NR4A3_uc004bae.2_Missense_Mutation_p.A299T|NR4A3_uc004bag.1_Missense_Mutation_p.A299T|NR4A3_uc004bai.2_Missense_Mutation_p.A310T	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	299	Nuclear receptor.|NR C4-type.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CGGGGACAACGCCGCCTGCCA	0.716			T	EWSR1	extraskeletal myxoid chondrosarcoma								A	102591219	G	A	102591219	3	1	274	1	0	0	0	0	1	0	0	0	10634	1087	38	1	934	1	NR4A3	9	102591219	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	769015	102591219	38622212	806	140112											
GRIN3A	116443	broad.mit.edu	37	chr9	104499750	104499750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagggtcactgctccatggcGaactaggggaggagaagggc	17	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:104499750G>A	uc004bbp.1	-	1	1113	c.512C>T	c.(511-513)TCG>TTG	p.S171L	GRIN3A_uc004bbq.1_Missense_Mutation_p.S171L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	171	Extracellular (Potential).				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			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		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)	GCTCCATGGCGAACTAGGGGA	0.607													A	104499750	G	A	104499750	3	1	274	1	0	0	0	0	1	0	0	0	6783	1059	37	1	2871	1	GRIN3A	9	104499750	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1908531	104499750	36713681	807	140113											
ABCA1	19	broad.mit.edu	37	chr9	107571802	107571802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggtctttggtgagggCgtttaagagttccagggttc	16	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:107571802C>T	uc004bcl.2	-	30	4532	c.4219G>A	c.(4219-4221)GCC>ACC	p.A1407T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1407	Extracellular.		A -> T (in a colorectal cancer sample; somatic mutation).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.A1407T(1)		large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGAGGGCGTTTAAGAGT	0.517													T	107571802	C	T	107571802	3	4	274	1	0	0	0	0	1	0	0	0	28	768	27	1	2650	1	ABCA1	9	107571802	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3072052	107571802	33641629	808	140114											
FKTN	2218	broad.mit.edu	37	chr9	108370183	108370183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtagaagaagtaccacActctaggtttattgagtgta	9	6	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:108370183A>C	uc004bcr.2	+	7	947	c.731A>C	c.(730-732)CAC>CCC	p.H244P	FKTN_uc011lvx.1_Missense_Mutation_p.H244P|FKTN_uc004bcs.2_Missense_Mutation_p.H244P|FKTN_uc011lvy.1_Missense_Mutation_p.H244P|FKTN_uc010mtm.2_Missense_Mutation_p.H112P	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	244	Lumenal (Potential).				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(2)|ovary(1)	3						GAAGTACCACACTCTAGGTTT	0.363													C	108370183	A	C	108370183	3	2	274	1	0	0	0	0	1	0	0	0	5919	159	6	5	749	5	FKTN	9	108370183	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	798381	108370183	32843248	809	140115											
ACTL7B	10880	broad.mit.edu	37	chr9	111617575	111617575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggcccggcagcacgtcGccctcggatatgggcaccac	13	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:111617575G>A	uc004bdi.2	-	1	701	c.636C>T	c.(634-636)GGC>GGT	p.G212G		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	212						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCAGCACGTCGCCCTCGGATA	0.667													A	111617575	G	A	111617575	2	1	274	1	0	0	0	0	0	0	0	1	201	1074	38	1		1	ACTL7B	9	111617575	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3247392	111617575	29595856	810	140116											
EPB41L4B	54566	broad.mit.edu	37	chr9	112013771	112013771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacactcaccagagctgggCtgctatcactgggttgcttg	13	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:112013771C>T	uc004bdz.1	-	13	1595	c.1300G>A	c.(1300-1302)GCC>ACC	p.A434T	EPB41L4B_uc004bea.2_Missense_Mutation_p.A434T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	434						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGAGCTGGGCTGCTATCACT	0.418													T	112013771	C	T	112013771	3	4	274	1	0	0	0	0	1	0	0	0	5156	797	28	2	1610	2	EPB41L4B	9	112013771	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	396196	112013771	29199660	811	140117											
PTPN3	5774	broad.mit.edu	37	chr9	112172545	112172545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggcgtcctcggtggaGccccctttggtcaccctgtg	14	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:112172545G>A	uc004bed.2	-	15	1576	c.1464C>T	c.(1462-1464)GGC>GGT	p.G488G	PTPN3_uc004beb.2_Silent_p.G357G|PTPN3_uc004bec.2_Silent_p.G312G|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.G443G|PTPN3_uc011lwh.1_Silent_p.G334G|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Silent_p.G201G|PTPN3_uc011lwf.1_Silent_p.G156G	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	488					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			ovary(3)	3						CCTCGGTGGAGCCCCCTTTGG	0.607													A	112172545	G	A	112172545	2	1	274	1	0	0	0	0	0	0	0	1	12789	958	34	2		2	PTPN3	9	112172545	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	158774	112172545	29040886	812	140118											
PTPN3	5774	broad.mit.edu	37	chr9	112219457	112219457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatcacaccaacctttTaactgcttcctgatggcttt	5	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:112219457T>C	uc004bed.2	-	4	397	c.285A>G	c.(283-285)TTA>TTG	p.L95L	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L95L|PTPN3_uc011lwh.1_Missense_Mutation_p.K13E|PTPN3_uc004bee.3_Silent_p.L95L	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	95	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			ovary(3)	3						ACCAACCTTTTAACTGCTTCC	0.418													C	112219457	T	C	112219457	2	2	274	1	0	0	0	0	0	0	0	1	12789	1751	61	3		3	PTPN3	9	112219457	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	46912	112219457	28993974	813	140119											
HSDL2	84263	broad.mit.edu	37	chr9	115203985	115203985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaatttttcaggtcatcCtttgcaaccagatttcttct	6	10	5	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:115203985C>A	uc004bga.1	+	8	893	c.800C>A	c.(799-801)CCT>CAT	p.P267H	HSDL2_uc011lwv.1_Missense_Mutation_p.P146H|HSDL2_uc004bgb.1_Missense_Mutation_p.P101H|HSDL2_uc004bgc.1_Missense_Mutation_p.P194H|HSDL2_uc011lww.1_Missense_Mutation_p.P62H	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	267						peroxisome	oxidoreductase activity|sterol binding				0						TCAGGTCATCCTTTGCAACCA	0.289													A	115203985	C	A	115203985	3	1	274	1	0	0	0	0	1	0	0	0	7394	681	24	5	830	5	HSDL2	9	115203985	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2984528	115203985	26009446	814	140120											
KIAA1958	158405	broad.mit.edu	37	chr9	115337496	115337496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccccagtcgctccagCcataaccactgaggccacag	9	18	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:115337496C>T	uc004bgf.1	+	2	1311	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	KIAA1958_uc011lwx.1_Missense_Mutation_p.A379V	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	379										skin(1)	1						GTCGCTCCAGCCATAACCACT	0.597													T	115337496	C	T	115337496	3	4	274	1	0	0	0	0	1	0	0	0	8264	739	26	2	1138	2	KIAA1958	9	115337496	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	133511	115337496	25875935	815	140121											
COL27A1	85301	broad.mit.edu	37	chr9	116930329	116930329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccctcgagctccgagGccgcacagtcactctggtga	12	16	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:116930329G>A	uc011lxl.1	+	3	494	c.494G>A	c.(493-495)GGC>GAC	p.G165D	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.G15D	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	165	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						GAGCTCCGAGGCCGCACAGTC	0.706													A	116930329	G	A	116930329	3	1	274	1	0	0	0	0	1	0	0	0	3685	1203	42	2	504	2	COL27A1	9	116930329	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1592833	116930329	24283102	816	140122											
DFNB31	25861	broad.mit.edu	37	chr9	117165145	117165145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgctccttgccccgaagCgtcagcccattcacttccag	9	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:117165145C>T	uc004biz.3	-	12	3262	c.2613G>A	c.(2611-2613)ACG>ACA	p.T871T	DFNB31_uc004bix.2_Silent_p.T520T|DFNB31_uc004biy.3_Silent_p.T488T|DFNB31_uc004bja.3_Silent_p.T870T	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	871	PDZ 3.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						TGCCCCGAAGCGTCAGCCCAT	0.592													T	117165145	C	T	117165145	2	4	274	1	0	0	0	0	0	0	0	1	4455	755	27	1		1	DFNB31	9	117165145	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	234816	117165145	24048286	817	140123											
TNC	3371	broad.mit.edu	37	chr9	117849041	117849041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgccattgatgcagcgGccccggtcgaagcagtcatt	13	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:117849041G>A	uc004bjj.3	-	3	1331	c.969C>T	c.(967-969)GGC>GGT	p.G323G	TNC_uc010mvf.2_Silent_p.G323G	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	323	EGF-like 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						TGATGCAGCGGCCCCGGTCGA	0.607													A	117849041	G	A	117849041	2	1	274	1	0	0	0	0	0	0	0	1	16267	1190	42	2		2	TNC	9	117849041	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	683896	117849041	23364390	818	140124											
C5	727	broad.mit.edu	37	chr9	123722601	123722601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatccaattcttcctgcaTttgcccacaatcagctggat	6	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:123722601T>C	uc004bkv.2	-	38	4633	c.4603A>G	c.(4603-4605)ATG>GTG	p.M1535V		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1535	NTR.				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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTTCCTGCATTTGCCCACAA	0.383													C	123722601	T	C	123722601	3	2	274	1	0	0	0	0	1	0	0	0	2280	1493	52	3	443	3	C5	9	123722601	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	5873560	123722601	17490830	819	140125											
DAB2IP	153090	broad.mit.edu	37	chr9	124535252	124535252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccaggcacctccgagggCgcgccaggccggccccagct	13	19	0	0	rs144586865	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:124535252C>T	uc004bln.2	+	12	2430	c.2361C>T	c.(2359-2361)GGC>GGT	p.G787G	DAB2IP_uc004blo.2_Silent_p.G691G|DAB2IP_uc004blp.2_Silent_p.G220G	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	815					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			ovary(1)|central_nervous_system(1)	2						CCTCCGAGGGCGCGCCAGGCC	0.726													T	124535252	C	T	124535252	2	4	274	1	0	0	0	0	0	0	0	1	4219	755	27	1		1	DAB2IP	9	124535252	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	812651	124535252	16678179	820	140126											
CRB2	286204	broad.mit.edu	37	chr9	126128524	126128524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttccggtgcgactgcgcGggcaccggctacgagggcac	17	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:126128524G>A	uc004bnx.1	+	4	725	c.633G>A	c.(631-633)GCG>GCA	p.A211A	CRB2_uc004bnw.1_Silent_p.A211A	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	211	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCGACTGCGCGGGCACCGGCT	0.771													A	126128524	G	A	126128524	2	1	274	1	0	0	0	0	0	0	0	1	3849	1103	39	1		1	CRB2	9	126128524	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1593272	126128524	15084907	821	140127											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870996	129870996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccaccagcatgtcacGcacagtggcctcatggtcct	10	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:129870996G>A	uc004bqr.1	-	2	515	c.15C>T	c.(13-15)TGC>TGT	p.C5C	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	5					multicellular organismal development|signal transduction	extracellular space	receptor binding				0						AGCATGTCACGCACAGTGGCC	0.532													A	129870996	G	A	129870996	2	1	274	1	0	0	0	0	0	0	0	1	614	1079	38	1		1	ANGPTL2	9	129870996	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3742472	129870996	11342435	822	140128											
AK1	203	broad.mit.edu	37	chr9	130630298	130630298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgttgctactttagggCgtccaggtgggtgcagacct	14	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:130630298C>T	uc004bsm.3	-	7	727	c.574G>A	c.(574-576)GCC>ACC	p.A192T		NM_000476	NP_000467	P00568	KAD1_HUMAN	adenylate kinase 1	192					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding				0						TACTTTAGGGCGTCCAGGTGG	0.667													T	130630298	C	T	130630298	3	4	274	1	0	0	0	0	1	0	0	0	439	768	27	1	14	1	AK1	9	130630298	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	759302	130630298	10583133	823	140129											
DNM1	1759	broad.mit.edu	37	chr9	130982549	130982549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaacgaaagttcttcCtctcccatccatcttatcgc	5	15	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:130982549C>A	uc011mau.1	+	6	865	c.778C>A	c.(778-780)CTC>ATC	p.L260I	DNM1_uc010mxr.2_Missense_Mutation_p.L260I|DNM1_uc011mat.1_Missense_Mutation_p.L260I	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	260					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						AAAGTTCTTCCTCTCCCATCC	0.562													A	130982549	C	A	130982549	3	1	274	1	0	0	0	0	1	0	0	0	4670	681	24	5	800	5	DNM1	9	130982549	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	352251	130982549	10230882	824	140130											
NUP188	23511	broad.mit.edu	37	chr9	131750408	131750408	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgtcaccaacaatgttattCggctgaaacctccttctaat	5	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:131750408C>G	uc004bws.1	+	24	2498	c.2476C>G	c.(2476-2478)CGG>GGG	p.R826G	NUP188_uc004bwu.2_Missense_Mutation_p.R169G	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	826					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CAATGTTATTCGGCTGAAACC	0.502													G	131750408	C	G	131750408	3	3	274	1	0	0	0	0	1	0	0	0	10758	875	31	5	2570	5	NUP188	9	131750408	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	767859	131750408	9463023	825	140131											
NUP188	23511	broad.mit.edu	37	chr9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgactctgtggtgcgtcGccagctctttcttgacgtgc	12	12	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:131760467G>A	uc004bws.1	+	31	3411	c.3389G>A	c.(3388-3390)CGC>CAC	p.R1130H	NUP188_uc004bwu.2_Missense_Mutation_p.R473H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1130					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GTGGTGCGTCGCCAGCTCTTT	0.438													A	131760467	G	A	131760467	3	1	274	1	0	0	0	0	1	0	0	0	10758	1087	38	1	3511	1	NUP188	9	131760467	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	10059	131760467	9452964	826	140132											
NUP188	23511	broad.mit.edu	37	chr9	131768572	131768572	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctgctcatctctcaggcGatgcggtaccttagggaccc	10	14	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:131768572G>A	uc004bws.1	+	43	5020	c.4998G>A	c.(4996-4998)GCG>GCA	p.A1666A		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1666					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TCTCTCAGGCGATGCGGTACC	0.572											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	131768572	G	A	131768572	2	1	274	1	0	0	0	0	0	0	0	1	10758	1045	37	1		1	NUP188	9	131768572	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8105	131768572	9444859	827	140133											
LAMC3	10319	broad.mit.edu	37	chr9	133901769	133901769	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcgccgacggcccatgGgagccctaccagttctacag	12	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:133901769G>A	uc004caa.1	+	2	569	c.471G>A	c.(469-471)TGG>TGA	p.W157*		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	157	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACGGCCCATGGGAGCCCTACC	0.647													A	133901769	G	A	133901769	4	1	274	1	0	0	0	0	0	1	0	0	8616	1241	43	4	477	4	LAMC3	9	133901769	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2133197	133901769	7311662	828	140134											
NUP214	8021	broad.mit.edu	37	chr9	134026004	134026004	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgtggcttctacagaTtgcacactttcagaaggagt	9	9	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:134026004T>G	uc004cag.2	+	16	2240	c.2129T>G	c.(2128-2130)ATT>AGT	p.I710S	NUP214_uc004cah.2_Missense_Mutation_p.I700S|NUP214_uc004cai.2_Missense_Mutation_p.I140S|NUP214_uc004caf.1_Missense_Mutation_p.I699S|NUP214_uc010mzf.2_Missense_Mutation_p.I8S	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	710	11 X 5 AA approximate repeats.				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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTTCTACAGATTGCACACTTT	0.473			T	DEK|SET|ABL1	AML|T-ALL								G	134026004	T	G	134026004	3	3	274	1	0	0	0	0	1	0	0	0	10762	1507	52	5	2191	5	NUP214	9	134026004	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	124235	134026004	7187427	829	140135											
C9orf96	169436	broad.mit.edu	37	chr9	136270471	136270471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtgagtgacagcagcGccttcagcaaaccaggcctc	12	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:136270471G>A	uc004cdk.2	+	18	2030	c.1969G>A	c.(1969-1971)GCC>ACC	p.A657T	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	657							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGACAGCAGCGCCTTCAGCAA	0.592													A	136270471	G	A	136270471	3	1	274	1	0	0	0	0	1	0	0	0	2508	1087	38	1	2039	1	C9orf96	9	136270471	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2244467	136270471	4942960	830	140136											
VAV2	7410	broad.mit.edu	37	chr9	136804319	136804319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagactttcaggaaggtgCgtatgttcttcaaacacaga	11	8	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:136804319C>T	uc004ces.2	-	2	273	c.227G>A	c.(226-228)CGC>CAC	p.R76H	VAV2_uc004cer.2_Missense_Mutation_p.R76H	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	76	CH.				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			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGGAAGGTGCGTATGTTCTT	0.423													T	136804319	C	T	136804319	3	4	274	1	0	0	0	0	1	0	0	0	17129	768	27	1	2525	1	VAV2	9	136804319	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	533848	136804319	4409112	831	140137											
COL5A1	1289	broad.mit.edu	37	chr9	137688237	137688237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcaactccggaggtgaCggcccagctggccctcctgg	15	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:137688237C>T	uc004cfe.2	+	35	3199	c.2817C>T	c.(2815-2817)GAC>GAT	p.D939D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	939	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		CCGGAGGTGACGGCCCAGCTG	0.567													T	137688237	C	T	137688237	2	4	274	1	0	0	0	0	0	0	0	1	3696	535	19	1		1	COL5A1	9	137688237	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	883918	137688237	3525194	832	140138											
INPP5E	56623	broad.mit.edu	37	chr9	139327500	139327500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgatctgagacacgatgCgtgtggtcaccgtggagcac	13	10	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:139327500C>T	uc004cho.2	-	5	1572	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H	INPP5E_uc010nbm.2_Missense_Mutation_p.R396H	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	396						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGACACGATGCGTGTGGTCAC	0.612													T	139327500	C	T	139327500	3	4	274	1	0	0	0	0	1	0	0	0	7757	768	27	1	771	1	INPP5E	9	139327500	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1639263	139327500	1885931	833	140139											
MAMDC4	158056	broad.mit.edu	37	chr9	139752000	139752000	+	Frame_Shift_Del	DEL	G	G	-													tgcctcgggccatgctgcctGgggccccccaacagaccata							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:139751999_139751999TG>T	uc004cjs.3	+	17	2337	c.2287_2287TG>T	c.(2287-2289)tggfs	p.W763fs	MAMDC4_uc011mej.2_Frame_Shift_Del_p.W100fs	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	842	MAM 4.				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)		CCATGCTGCCTGGGGCCCCCC	0.657													-	139752000	G	-	139752000	7	5	274	1	0	1	0	1	0	0	0	0	9204	1357	47	0	2358	0	MAMDC4	9	139752000	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	424500	139752000	1461431	834	140140											
ABCA2	20	broad.mit.edu	37	chr9	139905693	139905693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggccatctccatgagcccGtggcccaggttgtagttggg	14	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:139905693G>A	uc011mem.1	-	37	6013	c.5865C>T	c.(5863-5865)CAC>CAT	p.H1955H	ABCA2_uc011mel.1_Silent_p.H1956H|ABCA2_uc004ckl.1_Silent_p.H1886H|ABCA2_uc004ckm.1_Silent_p.H1986H	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1955					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				0	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)		CCATGAGCCCGTGGCCCAGGT	0.622													A	139905693	G	A	139905693	2	1	274	1	0	0	0	0	0	0	0	1	32	1136	40	1		1	ABCA2	9	139905693	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	153693	139905693	1307738	835	140141											
EXD3	54932	broad.mit.edu	37	chr9	140218289	140218289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccgagaggcagcgcccaGccccgacctgggcccggagc	15	18	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:140218289G>A	uc004cmp.2	-	19	2268	c.2072C>T	c.(2071-2073)GCT>GTT	p.A691V	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.A342V	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	691					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						GCAGCGCCCAGCCCCGACCTG	0.677													A	140218289	G	A	140218289	3	1	274	1	0	0	0	0	1	0	0	0	5299	971	34	2	574	2	EXD3	9	140218289	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	312596	140218289	995142	836	140142											
EHMT1	79813	broad.mit.edu	37	chr9	140611397	140611397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccggccctacaggcacaGcccttgaggactaccagcac	10	16	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr9:140611397G>A	uc011mfc.1	+	3	442	c.405G>A	c.(403-405)CAG>CAA	p.Q135Q	EHMT1_uc004coa.2_Silent_p.Q135Q|EHMT1_uc004cob.1_Silent_p.Q104Q	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	135					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)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TACAGGCACAGCCCTTGAGGA	0.567													A	140611397	G	A	140611397	2	1	274	1	0	0	0	0	0	0	0	1	4983	962	34	2		2	EHMT1	9	140611397	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	393108	140611397	602034	837	140143											
PFKP	5214	broad.mit.edu	37	chr10	3124609	3124609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgtccgtgccgtggtgCgcatgggtatctacgtgggg	17	11	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:3124609C>T	uc001igp.2	+	2	178	c.142C>T	c.(142-144)CGC>TGC	p.R48C	PFKP_uc001igq.2_Missense_Mutation_p.A13V|PFKP_uc009xhr.2_Missense_Mutation_p.R10C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	48	ATP (By similarity).				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGCCGTGGTGCGCATGGGTAT	0.413													T	3124609	C	T	3124609	3	4	274	1	0	0	0	0	1	0	0	0	11766	768	27	1	148	1	PFKP	10	3124609	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		3124609	132410138	838	140144											
C10orf18	54906	broad.mit.edu	37	chr10	5782190	5782190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaatgggacaaaaagccCtgaagcagcaaccccagtgg	12	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:5782190C>A	uc001iij.2	+	13	2682	c.2057C>A	c.(2056-2058)CCT>CAT	p.P686H	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	686										ovary(1)|central_nervous_system(1)	2						ACAAAAAGCCCTGAAGCAGCA	0.512													A	5782190	C	A	5782190	3	1	274	1	0	0	0	0	1	0	0	0	1596	681	24	5	2095	5	C10orf18	10	5782190	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2657581	5782190	129752557	839	140145											
C10orf18	54906	broad.mit.edu	37	chr10	5788819	5788819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcattacagaaggagacGccccttccagtctctctacc	7	14	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:5788819G>A	uc001iij.2	+	15	4060	c.3435G>A	c.(3433-3435)ACG>ACA	p.T1145T	C10orf18_uc001iik.2_5'UTR	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1145										ovary(1)|central_nervous_system(1)	2						AGAAGGAGACGCCCCTTCCAG	0.448													A	5788819	G	A	5788819	2	1	274	1	0	0	0	0	0	0	0	1	1596	1074	38	1		1	C10orf18	10	5788819	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6629	5788819	129745928	840	140146											
FBXO18	84893	broad.mit.edu	37	chr10	5959450	5959450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggagtgcacagaagaggCgcaccagatgactcatgacg	16	9	1	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:5959450C>T	uc001iis.2	+	11	1951	c.1856C>T	c.(1855-1857)GCG>GTG	p.A619V	FBXO18_uc001iir.2_Missense_Mutation_p.A545V|FBXO18_uc009xig.2_Missense_Mutation_p.A545V|FBXO18_uc001iit.2_Missense_Mutation_p.A670V	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	619					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						ACAGAAGAGGCGCACCAGATG	0.552													T	5959450	C	T	5959450	3	4	274	1	0	0	0	0	1	0	0	0	5731	768	27	1	2060	1	FBXO18	10	5959450	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	170631	5959450	129575297	841	140147											
RBM17	84991	broad.mit.edu	37	chr10	6154225	6154225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggcttccgggagggccagGgtctggggaagcatgagcag	19	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:6154225G>T	uc001ijb.2	+	8	983	c.757G>T	c.(757-759)GGT>TGT	p.G253C	RBM17_uc010qav.1_Missense_Mutation_p.G253C|RBM17_uc001ijc.2_5'Flank	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	253	G-patch.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						GGAGGGCCAGGGTCTGGGGAA	0.597													T	6154225	G	T	6154225	3	4	274	1	0	0	0	0	1	0	0	0	13119	1232	43	5	783	5	RBM17	10	6154225	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	194775	6154225	129380522	842	140148											
TAF3	83860	broad.mit.edu	37	chr10	7866405	7866405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcccacaccaaattccGtcatttcctgttagcaagaa	4	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:7866405G>A	uc010qbd.1	+	2	291	c.291G>A	c.(289-291)CCG>CCA	p.P97P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	97					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			ovary(1)	1						ACCAAATTCCGTCATTTCCTG	0.423													A	7866405	G	A	7866405	2	1	274	1	0	0	0	0	0	0	0	1	15522	1132	40	1		1	TAF3	10	7866405	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1712180	7866405	127668342	843	140149											
OPTN	10133	broad.mit.edu	37	chr10	13168010	13168010	+	Frame_Shift_Del	DEL	A	A	-													aagaacataataatgcattgAaaacaattgaggaactaaca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:13168009_13168009GA>G	uc001ilu.1	+	11	1650	c.1212_1212GA>G	c.(1210-1212)ttgfs	p.L404fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.L404fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.L404fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.L404fs|OPTN_uc001ily.1_Frame_Shift_Del_p.L398fs|OPTN_uc010qbr.1_Frame_Shift_Del_p.L347fs	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	404					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	p.A403S(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAATGCATTGAAAACAATTG	0.308													-	13168010	A	-	13168010	7	5	274	1	0	1	0	1	0	0	0	0	10889	247	9	0	1247	0	OPTN	10	13168010	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	5301605	13168010	122366737	844	140150											
OPTN	10133	broad.mit.edu	37	chr10	13178765	13178765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgaggacagggactggCggcaacagcggaatattccg	16	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:13178765C>T	uc001ilu.1	+	16	2071	c.1633C>T	c.(1633-1635)CGG>TGG	p.R545W	OPTN_uc001ilv.1_Missense_Mutation_p.R545W|OPTN_uc001ilw.1_Missense_Mutation_p.R545W|OPTN_uc001ilx.1_Missense_Mutation_p.R545W|OPTN_uc001ily.1_Missense_Mutation_p.R539W|OPTN_uc010qbr.1_Missense_Mutation_p.R488W|OPTN_uc001ilz.1_Missense_Mutation_p.R539W	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	545	Interaction with HD.				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			ovary(2)	2						CAGGGACTGGCGGCAACAGCG	0.458													T	13178765	C	T	13178765	3	4	274	1	0	0	0	0	1	0	0	0	10889	759	27	1	1683	1	OPTN	10	13178765	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	10755	13178765	122355982	845	140151											
RPP38	10557	broad.mit.edu	37	chr10	15145415	15145415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatacatcatccgctggagCgctctggagagcgaggatat	12	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:15145415C>T	uc001iny.3	+	3	815	c.102C>T	c.(100-102)AGC>AGT	p.S34S	RPP38_uc009xjm.2_Silent_p.S34S|RPP38_uc001inx.3_Silent_p.S34S	NM_183005	NP_892117	P78345	RPP38_HUMAN	ribonuclease P/MRP 38 subunit	34					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			ovary(1)	1						TCCGCTGGAGCGCTCTGGAGA	0.507													T	15145415	C	T	15145415	2	4	274	1	0	0	0	0	0	0	0	1	13613	767	27	1		1	RPP38	10	15145415	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1966650	15145415	120389332	846	140152											
FAM171A1	221061	broad.mit.edu	37	chr10	15254921	15254921	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcgatagctcatttaAtgttaaacgccatcaggggc	11	9	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:15254921A>T	uc001iob.2	-	8	2673	c.2666T>A	c.(2665-2667)ATT>AAT	p.I889N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	889	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AGCTCATTTAATGTTAAACGC	0.507													T	15254921	A	T	15254921	3	4	274	1	0	0	0	0	1	0	0	0	5490	101	4	5	10	5	FAM171A1	10	15254921	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	109506	15254921	120279826	847	140153											
FAM171A1	221061	broad.mit.edu	37	chr10	15290770	15290770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attactgctcagcaagtggaCgctgacggctgtgactgggg	15	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:15290770C>T	uc001iob.2	-	5	629	c.622G>A	c.(622-624)GTC>ATC	p.V208I		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	208	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AGCAAGTGGACGCTGACGGCT	0.562													T	15290770	C	T	15290770	3	4	274	1	0	0	0	0	1	0	0	0	5490	536	19	1	2066	1	FAM171A1	10	15290770	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	35849	15290770	120243977	848	140154											
PTER	9317	broad.mit.edu	37	chr10	16526567	16526567	+	Frame_Shift_Del	DEL	A	A	-													aaaatttatattggattcagAaaaacgcctattcccataaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:16526566_16526566GA>G	uc001iog.1	+	2	390	c.183_183GA>G	c.(181-183)cagfs	p.Q61fs	PTER_uc001ioh.1_Frame_Shift_Del_p.Q61fs|PTER_uc001ioi.1_Frame_Shift_Del_p.Q61fs|PTER_uc009xjp.1_Frame_Shift_Del_p.Q61fs	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	61					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATTGGATTCAGAAAAACGCCT	0.413													-	16526567	A	-	16526567	7	5	274	1	0	1	0	1	0	0	0	0	12739	247	9	0	186	0	PTER	10	16526567	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	1235797	16526567	119008180	849	140155											
CUBN	8029	broad.mit.edu	37	chr10	16941150	16941150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaggggatctgattgTaccattatcagaatgaaata	10	6	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:16941150T>C	uc001ioo.2	-	54	8495	c.8443A>G	c.(8443-8445)ACA>GCA	p.T2815A	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.T171A	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2815	CUB 21.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATCTGATTGTACCATTATCA	0.403													C	16941150	T	C	16941150	3	2	274	1	0	0	0	0	1	0	0	0	4051	1638	57	3	2484	3	CUBN	10	16941150	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	414583	16941150	118593597	850	140156											
VIM	7431	broad.mit.edu	37	chr10	17277192	17277192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccctggaacgccagatgCgtgaaatggaagagaacttt	12	8	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:17277192C>T	uc001iou.2	+	7	1446	c.1033C>T	c.(1033-1035)CGT>TGT	p.R345C	VIM_uc001iov.1_Missense_Mutation_p.R345C|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R345C|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R303C|VIM_uc001ipc.1_Missense_Mutation_p.R345C	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	345	Rod.|Coil 2.				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			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACGCCAGATGCGTGAAATGGA	0.478													T	17277192	C	T	17277192	3	4	274	1	0	0	0	0	1	0	0	0	17163	768	27	1	1055	1	VIM	10	17277192	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	336042	17277192	118257555	851	140157											
SLC39A12	221074	broad.mit.edu	37	chr10	18276520	18276520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcttatcttacagctGtttgtgggcttggccgtcgg	13	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:18276520G>A	uc001ipo.2	+	7	1482	c.1209G>A	c.(1207-1209)CTG>CTA	p.L403L	SLC39A12_uc001ipn.2_Silent_p.L403L|SLC39A12_uc001ipp.2_Silent_p.L403L|SLC39A12_uc010qck.1_Silent_p.L269L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	403	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCTTACAGCTGTTTGTGGGCT	0.532													A	18276520	G	A	18276520	2	1	274	1	0	0	0	0	0	0	0	1	14615	1364	48	4		4	SLC39A12	10	18276520	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	999328	18276520	117258227	852	140158											
KIAA1217	56243	broad.mit.edu	37	chr10	24508692	24508692	+	Frame_Shift_Del	DEL	G	G	-													tcccaaggagacacaccctaGgggggccccgaagttccaag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:24508691_24508691AG>A	uc001iru.4	+	1	610	c.207_207AG>A	c.(205-207)ctafs	p.L69fs	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Frame_Shift_Del_p.L69fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.L69fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.L69fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	69					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						GACACACCCTAGGGGGGCCCC	0.502													-	24508692	G	-	24508692	7	5	274	1	0	1	0	1	0	0	0	0	8216	1000	35	0	214	0	KIAA1217	10	24508692	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	6232172	24508692	111026055	853	140159											
PRTFDC1	56952	broad.mit.edu	37	chr10	25160939	25160939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaacctttccagccagCgttgaaagatcatcgcctcc	7	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:25160939C>T	uc001ise.1	-	4	422	c.393G>A	c.(391-393)ACG>ACA	p.T131T	PRTFDC1_uc010qdd.1_Silent_p.T131T|PRTFDC1_uc001isf.1_RNA|PRTFDC1_uc009xkm.1_RNA	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	131					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			ovary(1)	1						TTCCAGCCAGCGTTGAAAGAT	0.468													T	25160939	C	T	25160939	2	4	274	1	0	0	0	0	0	0	0	1	12637	755	27	1		1	PRTFDC1	10	25160939	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	652247	25160939	110373808	854	140160											
ENKUR	219670	broad.mit.edu	37	chr10	25279400	25279400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacacacacctgcaaaaCtgcctccctttcttcatcgg	5	16	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:25279400C>T	uc001isg.1	-	4	751	c.586G>A	c.(586-588)GTT>ATT	p.V196I	ENKUR_uc001ish.1_Missense_Mutation_p.V134I	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	196						cilium|flagellum	calmodulin binding|SH3 domain binding				0						ACCTGCAAAACTGCCTCCCTT	0.403													T	25279400	C	T	25279400	3	4	274	1	0	0	0	0	1	0	0	0	5120	565	20	4	196	4	ENKUR	10	25279400	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	118461	25279400	110255347	855	140161											
GPR158	57512	broad.mit.edu	37	chr10	25887786	25887786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgcctttgggagagccaAggccagtccattttggaaga	13	8	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:25887786A>C	uc001isj.2	+	11	3291	c.3231A>C	c.(3229-3231)CAA>CAC	p.Q1077H	GPR158_uc001isk.2_Missense_Mutation_p.Q452H	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1077	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GGGAGAGCCAAGGCCAGTCCA	0.493													C	25887786	A	C	25887786	3	2	274	1	0	0	0	0	1	0	0	0	6663	69	3	5	3273	5	GPR158	10	25887786	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	608386	25887786	109646961	856	140162											
GAD2	2572	broad.mit.edu	37	chr10	26505753	26505753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccgatggcatctccgggCtctggcttttggtctttcgg	13	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:26505753C>T	uc001isp.2	+	1	518	c.15C>T	c.(13-15)GGC>GGT	p.G5G	GAD2_uc009xkr.2_Silent_p.G5G|GAD2_uc001isq.2_Silent_p.G5G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	5					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)|skin(1)	2					L-Glutamic Acid(DB00142)	CATCTCCGGGCTCTGGCTTTT	0.672													T	26505753	C	T	26505753	2	4	274	1	0	0	0	0	0	0	0	1	6180	784	28	2		2	GAD2	10	26505753	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	617967	26505753	109028994	857	140163											
GAD2	2572	broad.mit.edu	37	chr10	26506836	26506836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacccccgcgggccgccGcccggaaggccgcctgcgcc	14	22	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:26506836G>A	uc001isp.2	+	3	705	c.202G>A	c.(202-204)GCC>ACC	p.A68T	GAD2_uc009xkr.2_Missense_Mutation_p.A68T|GAD2_uc001isq.2_Missense_Mutation_p.A68T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	68					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)|skin(1)	2					L-Glutamic Acid(DB00142)	gcgggccgccgcccggAAGGC	0.567													A	26506836	G	A	26506836	3	1	274	1	0	0	0	0	1	0	0	0	6180	1087	38	1	212	1	GAD2	10	26506836	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1083	26506836	109027911	858	140164											
GAD2	2572	broad.mit.edu	37	chr10	26513580	26513580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgggatattttctcccGgtacatgatatttcaacttt	8	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:26513580G>A	uc001isp.2	+	6	1227	c.724G>A	c.(724-726)GGT>AGT	p.G242S	GAD2_uc001isq.2_Missense_Mutation_p.G242S	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	242					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)|skin(1)	2					L-Glutamic Acid(DB00142)	ATTTTCTCCCGGTACATGATA	0.388													A	26513580	G	A	26513580	3	1	274	1	0	0	0	0	1	0	0	0	6180	1130	39	1	746	1	GAD2	10	26513580	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6744	26513580	109021167	859	140165											
PDSS1	23590	broad.mit.edu	37	chr10	27012843	27012843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttattgaagatttggtgCgtggtacgttgattctgatt	12	3	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:27012843C>T	uc001isv.2	+	7	764	c.718C>T	c.(718-720)CGT>TGT	p.R240C	PDSS1_uc001isw.2_Missense_Mutation_p.R240C	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	prenyl diphosphate synthase, subunit 1	240					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity				0						AGATTTGGTGCGTGGTACGTT	0.378													T	27012843	C	T	27012843	3	4	274	1	0	0	0	0	1	0	0	0	11693	768	27	1	744	1	PDSS1	10	27012843	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	499263	27012843	108521904	860	140166											
PTCHD3	374308	broad.mit.edu	37	chr10	27702478	27702478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgcagatcctgcaccgcGccgtccagtttgctgacttc	10	16	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:27702478G>A	uc001itu.2	-	1	820	c.702C>T	c.(700-702)GGC>GGT	p.G234G		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	234					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CCTGCACCGCGCCGTCCAGTT	0.627													A	27702478	G	A	27702478	2	1	274	1	0	0	0	0	0	0	0	1	12734	1074	38	1		1	PTCHD3	10	27702478	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	689635	27702478	107832269	861	140167											
ZNF438	220929	broad.mit.edu	37	chr10	31133912	31133912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttctcagcttcactggaaAgttcgatcactccctggttg	8	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31133912A>T	uc010qdz.1	-	8	2900	c.2465T>A	c.(2464-2466)CTT>CAT	p.L822H	ZNF438_uc001ivn.2_Missense_Mutation_p.L773H|ZNF438_uc010qdy.1_Missense_Mutation_p.L812H|ZNF438_uc001ivo.3_Missense_Mutation_p.L386H|ZNF438_uc009xlg.2_Missense_Mutation_p.L822H|ZNF438_uc001ivp.3_Missense_Mutation_p.L812H|ZNF438_uc010qea.1_Missense_Mutation_p.L822H|ZNF438_uc010qeb.1_Missense_Mutation_p.L822H	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TTCACTGGAAAGTTCGATCAC	0.532													T	31133912	A	T	31133912	3	4	274	1	0	0	0	0	1	0	0	0	17907	72	3	5	25	5	ZNF438	10	31133912	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	3431434	31133912	104400835	862	140168											
ZNF438	220929	broad.mit.edu	37	chr10	31134326	31134326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagtccccttgcttcctGggaaggtcccttcttgtagc	10	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31134326G>A	uc010qdz.1	-	8	2486	c.2051C>T	c.(2050-2052)CCA>CTA	p.P684L	ZNF438_uc001ivn.2_Missense_Mutation_p.P635L|ZNF438_uc010qdy.1_Missense_Mutation_p.P674L|ZNF438_uc001ivo.3_Missense_Mutation_p.P248L|ZNF438_uc009xlg.2_Missense_Mutation_p.P684L|ZNF438_uc001ivp.3_Missense_Mutation_p.P674L|ZNF438_uc010qea.1_Missense_Mutation_p.P684L|ZNF438_uc010qeb.1_Missense_Mutation_p.P684L	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				CTTGCTTCCTGGGAAGGTCCC	0.502													A	31134326	G	A	31134326	3	1	274	1	0	0	0	0	1	0	0	0	17907	1348	47	4	439	4	ZNF438	10	31134326	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	414	31134326	104400421	863	140169											
ZEB1	6935	broad.mit.edu	37	chr10	31815877	31815877	+	Silent	SNP	C	C	T													agggcgtctccctcacagggCgactcggacgagagagagag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31815877C>T	uc001ivs.3	+	9	3123	c.3060C>T	c.(3058-3060)GGC>GGT	p.G1020G	ZEB1_uc001ivr.3_Silent_p.G802G|ZEB1_uc010qee.1_Silent_p.G802G|ZEB1_uc010qef.1_Silent_p.G802G|ZEB1_uc001ivt.3_Silent_p.G802G|ZEB1_uc001ivu.3_Silent_p.G1021G|ZEB1_uc001ivv.3_Silent_p.G1000G|ZEB1_uc010qeh.1_Silent_p.G953G|ZEB1_uc009xlp.2_Silent_p.G1004G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1020	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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CCTCACAGGGCGACTCGGACG	0.423													T	31815877	C	T	31815877	2	4	274	1	0	0	0	0	0	0	0	1	17620	755	27	1		1	ZEB1	10	31815877	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	681551	31815877	103718870	864	140170	752	2									
ZEB1	6935	broad.mit.edu	37	chr10	31815887	31815888	+	Frame_Shift_Del	DEL	GA	GA	-													cctcacagggcgactcggacGagagagagagtttgacaagg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:31815886_31815887CGA>C	uc001ivs.4	+	8	3132_3133	c.3069_3070CGA>C	c.(3067-3072)gacgagfs	p.D1023fs	ZEB1_uc001ivr.4_Frame_Shift_Del_p.D805fs|ZEB1_uc010qef.2_Frame_Shift_Del_p.D805fs|ZEB1_uc001ivu.4_Frame_Shift_Del_p.D1024fs|ZEB1_uc010qeh.2_Frame_Shift_Del_p.D956fs|ZEB1_uc001ivv.4_Frame_Shift_Del_p.D1003fs|ZEB1_uc001ivt.4_Frame_Shift_Del_p.D805fs|ZEB1_uc009xlo.2_Frame_Shift_Del_p.D1006fs|ZEB1_uc009xlp.3_Frame_Shift_Del_p.D1007fs	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1023	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	p.S1022*(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)				GCGACTCGGACGAGAGAGAGAG	0.52													-	31815888	GA	-	31815887	7	5	274	1	0	1	0	1	0	0	0	0	17620	1059	37	0	3118	0	ZEB1	10	31815887	Frame_Shift_Del	DEL	GA	TCGA-HU-A4GU-01A-11D-A25D-08	10	31815887	103718860	865	140171	752	2									
NRP1	8829	broad.mit.edu	37	chr10	33502476	33502476	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccaggtctatttggagCcactcattgatgtaggaatg	10	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:33502476C>T	uc001iwx.3	-	9	1975	c.1452G>A	c.(1450-1452)TGG>TGA	p.W484*	NRP1_uc001iwv.3_Nonsense_Mutation_p.W484*|NRP1_uc009xlz.2_Nonsense_Mutation_p.W484*|NRP1_uc001iww.3_Nonsense_Mutation_p.W303*|NRP1_uc001iwy.3_Nonsense_Mutation_p.W484*|NRP1_uc001iwz.2_Nonsense_Mutation_p.W484*|NRP1_uc001ixa.2_Nonsense_Mutation_p.W484*|NRP1_uc001ixb.1_Nonsense_Mutation_p.W484*|NRP1_uc001ixc.1_Nonsense_Mutation_p.W484*	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	484	Extracellular (Potential).|F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	CTATTTGGAGCCACTCATTGA	0.537													T	33502476	C	T	33502476	4	4	274	1	0	0	0	0	0	1	0	0	10660	740	26	2	1366	2	NRP1	10	33502476	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1686589	33502476	102032271	866	140172											
ZNF33A	7581	broad.mit.edu	37	chr10	38343438	38343438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaataccatttaatgtggAtgtaagttcttttccttcca	7	7	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:38343438A>G	uc001izh.2	+	5	561	c.383A>G	c.(382-384)GAT>GGT	p.D128G	ZNF33A_uc001izg.2_Missense_Mutation_p.D129G|ZNF33A_uc010qev.1_Missense_Mutation_p.D135G|ZNF33A_uc001izi.1_Missense_Mutation_p.D129G	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	128						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						TTTAATGTGGATGTAAGTTCT	0.328													G	38343438	A	G	38343438	3	3	274	1	0	0	0	0	1	0	0	0	17851	333	12	3	400	3	ZNF33A	10	38343438	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4840962	38343438	97191309	867	140173											
BMS1	9790	broad.mit.edu	37	chr10	43315753	43315753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagggttttcgacctgggAtgtacgtccgcattgagatt	13	7	0	2	rs2419109		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:43315753A>G	uc001jaj.2	+	16	3008	c.2650A>G	c.(2650-2652)ATG>GTG	p.M884V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	884					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TCGACCTGGGATGTACGTCCG	0.458													G	43315753	A	G	43315753	3	3	274	1	0	0	0	0	1	0	0	0	1472	333	12	3	2708	3	BMS1	10	43315753	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4972315	43315753	92218994	868	140174											
RET	5979	broad.mit.edu	37	chr10	43613913	43613913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcatcaaattgtatgggGcctgcagccaggatggtaag	13	7	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:43613913G>A	uc001jal.2	+	13	2567	c.2377G>A	c.(2377-2379)GCC>ACC	p.A793T	RET_uc001jak.1_Missense_Mutation_p.A793T|RET_uc010qez.1_Missense_Mutation_p.A539T	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	793	Protein kinase.|Cytoplasmic (Potential).				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			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATTGTATGGGGCCTGCAGCCA	0.587		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				A	43613913	G	A	43613913	3	1	274	1	0	0	0	0	1	0	0	0	13235	1203	42	2	2427	2	RET	10	43613913	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	298160	43613913	91920834	869	140175											
TMEM72	643236	broad.mit.edu	37	chr10	45430553	45430553	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccccactcttcctgTcatctcttacagccaccggc	6	20	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:45430553T>C	uc001jbn.2	+	5	996	c.799T>C	c.(799-801)TCA>CCA	p.S267P	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.S149P	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	267						integral to membrane					0						ACTCTTCCTGTCATCTCTTAC	0.612													C	45430553	T	C	45430553	3	2	274	1	0	0	0	0	1	0	0	0	16198	1667	58	3	817	3	TMEM72	10	45430553	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1816640	45430553	90104194	870	140176											
FRMPD2	143162	broad.mit.edu	37	chr10	49457097	49457097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctcatcctcactctgTccctgtagcagttcaggggc	11	14	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:49457097T>C	uc001jgi.2	-	3	383	c.276A>G	c.(274-276)GGA>GGG	p.G92G	FRMPD2_uc001jgh.2_Silent_p.G83G|FRMPD2_uc001jgj.2_Silent_p.G92G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	92	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		CCTCACTCTGTCCCTGTAGCA	0.562													C	49457097	T	C	49457097	2	2	274	1	0	0	0	0	0	0	0	1	6058	1654	58	3		3	FRMPD2	10	49457097	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	4026544	49457097	86077650	871	140177											
ERCC6	2074	broad.mit.edu	37	chr10	50680490	50680490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcacttgcttcttctgGcctattctccatgctcgctc	6	15	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:50680490G>A	uc001jhs.3	-	16	3010	c.2856C>T	c.(2854-2856)GGC>GGT	p.G952G	ERCC6_uc009xod.2_Silent_p.G112G|ERCC6_uc010qgr.1_Silent_p.G322G|ERCC6_uc001jhr.3_Silent_p.G320G	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	952	Helicase C-terminal.				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			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GCTTCTTCTGGCCTATTCTCC	0.522								Direct_reversal_of_damage|NER					A	50680490	G	A	50680490	2	1	274	1	0	0	0	0	0	0	0	1	5217	1190	42	2		2	ERCC6	10	50680490	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1223393	50680490	84854257	872	140178											
OGDHL	55753	broad.mit.edu	37	chr10	50959951	50959951	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccaggggtctcaaacTtctgccggatccactggcac	9	15	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:50959951T>C	uc001jie.2	-	6	813	c.671A>G	c.(670-672)AAG>AGG	p.K224R	OGDHL_uc009xog.2_Missense_Mutation_p.K251R|OGDHL_uc010qgt.1_Missense_Mutation_p.K167R|OGDHL_uc010qgu.1_Missense_Mutation_p.K15R|OGDHL_uc009xoh.2_Missense_Mutation_p.K15R	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	224					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGTCTCAAACTTCTGCCGGAT	0.597													C	50959951	T	C	50959951	3	2	274	1	0	0	0	0	1	0	0	0	10840	1609	56	3	2433	3	OGDHL	10	50959951	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	279461	50959951	84574796	873	140179											
NCOA4	8031	broad.mit.edu	37	chr10	51585083	51585083	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattggcttgtccagaaccaTcaggacccatgtaaggtaga	11	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:51585083T>C	uc001jis.3	+	8	1385	c.1182T>C	c.(1180-1182)CAT>CAC	p.H394H	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.H410H|NCOA4_uc010qhd.1_Silent_p.H410H|NCOA4_uc010qhe.1_Silent_p.H294H|NCOA4_uc010qhf.1_Silent_p.H228H|NCOA4_uc001jit.2_Silent_p.H394H|NCOA4_uc009xoo.2_Silent_p.H394H	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	394					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TCCAGAACCATCAGGACCCAT	0.512			T	RET	papillary thyroid 								C	51585083	T	C	51585083	2	2	274	1	0	0	0	0	0	0	0	1	10231	1432	50	3		3	NCOA4	10	51585083	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	625132	51585083	83949664	874	140180											
ANK3	288	broad.mit.edu	37	chr10	61831897	61831897	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcatttctttaatttcTgagagagagccgtttgttaa	8	6	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:61831897T>G	uc001jky.2	-	37	8934	c.8742A>C	c.(8740-8742)TCA>TCC	p.S2914S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2914					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CTTTAATTTCTGAGAGAGAGC	0.388													G	61831897	T	G	61831897	2	3	274	1	0	0	0	0	0	0	0	1	622	1567	55	5		5	ANK3	10	61831897	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	10246814	61831897	73702850	875	140181											
DNAJC12	56521	broad.mit.edu	37	chr10	69571347	69571347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacatctggctccttcgccAgtggtcatagcgggctcgac	12	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:69571347A>C	uc001jnb.2	-	3	400	c.232T>G	c.(232-234)TGG>GGG	p.W78G	DNAJC12_uc001jnc.2_Missense_Mutation_p.W78G	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	78	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1						CTCCTTCGCCAGTGGTCATAG	0.493													C	69571347	A	C	69571347	3	2	274	1	0	0	0	0	1	0	0	0	4631	188	7	5	403	5	DNAJC12	10	69571347	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	7739450	69571347	65963400	876	140182											
TET1	80312	broad.mit.edu	37	chr10	70332676	70332677	+	Frame_Shift_Ins	INS	-	-	A													acaactcagttttggtcccaINSaagagttgaggattccaaga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:70332675_70332676C>CA	uc001jok.4	+	1	1085_1086	c.580_581C>CA	c.(580-582)caafs	p.Q194fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	194					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						GTTTTGGTCCCAAAGAGTTGAG	0.48													A	70332677	-	A	70332676	7	5	274	1	0	1	1	0	0	0	0	0	15766	130	5	0	583	0	TET1	10	70332676	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	761329	70332676	65202071	877	140183											
PPA1	5464	broad.mit.edu	37	chr10	71977579	71977579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacatacctgagggatggCaccatagttccagatatatc	9	9	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:71977579C>T	uc001jqv.1	-	4	393	c.286G>A	c.(286-288)GCC>ACC	p.A96T		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	96				AI -> TL (in Ref. 10; CAA88494).	diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1						TGAGGGATGGCACCATAGTTC	0.343													T	71977579	C	T	71977579	3	4	274	1	0	0	0	0	1	0	0	0	12286	710	25	2	615	2	PPA1	10	71977579	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1644903	71977579	63557168	878	140184											
PRF1	5551	broad.mit.edu	37	chr10	72358049	72358049	+	Frame_Shift_Del	DEL	C	C	-													cagacctgcaacctcaggggCccccctgtggccaggagcac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:72358048_72358048GC>G	uc009xqg.3	-	2	1590	c.1429_1429GC>C	c.(1429-1431)cccfs	p.P477fs	PRF1_uc001jrf.4_Frame_Shift_Del_p.P477fs	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	477	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.G476R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AACCTCAGGGGCCCCCCTGTG	0.607			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				-	72358049	C	-	72358049	7	5	274	1	0	1	0	1	0	0	0	0	12478	726	26	0	243	0	PRF1	10	72358049	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	380470	72358049	63176698	879	140185											
UNC5B	219699	broad.mit.edu	37	chr10	73047482	73047482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggccttctgcgagggCcaggcattccagaagaccgc	16	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73047482C>T	uc001jro.2	+	6	1306	c.861C>T	c.(859-861)GGC>GGT	p.G287G	UNC5B_uc001jrp.2_Silent_p.G287G	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	287	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TCTGCGAGGGCCAGGCATTCC	0.647													T	73047482	C	T	73047482	2	4	274	1	0	0	0	0	0	0	0	1	16989	726	26	2		2	UNC5B	10	73047482	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	689433	73047482	62487265	880	140186											
CDH23	64072	broad.mit.edu	37	chr10	73464675	73464675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgccctcaggtggtggCcatcgacctcgatgagggcc	13	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73464675C>T	uc001jrx.3	+	24	3118	c.2741C>T	c.(2740-2742)GCC>GTC	p.A914V	CDH23_uc001jry.2_Missense_Mutation_p.A530V|CDH23_uc001jrz.2_Missense_Mutation_p.A530V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	914	Cadherin 9.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CAGGTGGTGGCCATCGACCTC	0.652													T	73464675	C	T	73464675	3	4	274	1	0	0	0	0	1	0	0	0	3108	739	26	2	3062	2	CDH23	10	73464675	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	417193	73464675	62070072	881	140187											
CDH23	64072	broad.mit.edu	37	chr10	73491898	73491898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccactgaccaggccccGcccttcaaccagggcttctg	10	18	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73491898G>A	uc001jrx.3	+	31	4247	c.3870G>A	c.(3868-3870)CCG>CCA	p.P1290P	CDH23_uc001jrz.2_Silent_p.P906P|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Silent_p.P98P	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1290	Cadherin 12.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACCAGGCCCCGCCCTTCAACC	0.562													A	73491898	G	A	73491898	2	1	274	1	0	0	0	0	0	0	0	1	3108	1074	38	1		1	CDH23	10	73491898	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	27223	73491898	62042849	882	140188											
PSAP	5660	broad.mit.edu	37	chr10	73588831	73588831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcacacctccccaggacGgctctggtgggatggaaaga	14	11	1	2	rs148519599		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73588831G>A	uc001jsm.2	-	5	483	c.379C>T	c.(379-381)CGT>TGT	p.R127C		NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	127	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						TCCCCAGGACGGCTCTGGTGG	0.522													A	73588831	G	A	73588831	3	1	274	1	0	0	0	0	1	0	0	0	12643	1116	39	1	1251	1	PSAP	10	73588831	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	96933	73588831	61945916	883	140189											
ASCC1	51008	broad.mit.edu	37	chr10	73970504	73970504	+	Frame_Shift_Del	DEL	G	G	-													actcacttatagagcaagctGggggccctcaaagtagaccg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:73970503_73970503TG>T	uc001jst.2	-	2	467	c.199_199CA>A	c.(199-201)agcfs	p.S67fs	ANAPC16_uc021psn.1_Intron|ASCC1_uc001jss.2_Frame_Shift_Del_p.S67fs|ASCC1_uc021pso.1_Frame_Shift_Del_p.S67fs|ASCC1_uc001jsu.2_Frame_Shift_Del_p.S67fs|ASCC1_uc010qju.2_Frame_Shift_Del_p.S88fs	NM_001198799	NP_001185728	Q8N9N2	ASCC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TAGAGCAAGCTGGGGGCCCTC	0.532													-	73970504	G	-	73970504	7	5	274	1	0	1	0	1	0	0	0	0	1031	1335	47	0	907	0	ASCC1	10	73970504	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	381673	73970504	61564243	884	140190											
ZMYND17	118490	broad.mit.edu	37	chr10	75188039	75188039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgccgggaccgtggagCcatggcctgtccagtgatac	14	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75188039C>T	uc001jud.2	-	2	70	c.4G>A	c.(4-6)GCT>ACT	p.A2T	ZMYND17_uc001juc.2_Missense_Mutation_p.A2T|ZMYND17_uc009xrh.2_Missense_Mutation_p.A25T|ZMYND17_uc009xrg.2_5'UTR	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	2							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)					GACCGTGGAGCCATGGCCTGT	0.507													T	75188039	C	T	75188039	3	4	274	1	0	0	0	0	1	0	0	0	17706	739	26	2	1402	2	ZMYND17	10	75188039	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1217535	75188039	60346708	885	140191											
PPP3CB	5532	broad.mit.edu	37	chr10	75234731	75234731	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcattcatggttgcctcTcagaagaaataatgtgcttg	9	8	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75234731T>A	uc001jue.2	-	4	604	c.469A>T	c.(469-471)AGA>TGA	p.R157*	PPP3CB_uc001juf.2_Nonsense_Mutation_p.R157*|PPP3CB_uc001jug.2_Nonsense_Mutation_p.R157*|PPP3CB_uc001jui.2_Nonsense_Mutation_p.R175*|PPP3CB_uc001juh.2_Nonsense_Mutation_p.R71*	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	157	Catalytic.									skin(1)	1	Prostate(51;0.0119)					TGGTTGCCTCTCAGAAGAAAT	0.338													A	75234731	T	A	75234731	4	1	274	1	0	0	0	0	0	1	0	0	12398	1559	54	5	1152	5	PPP3CB	10	75234731	Nonsense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	46692	75234731	60300016	886	140192											
SYNPO2L	79933	broad.mit.edu	37	chr10	75408049	75408049	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagctggggtcggggctccaCcacctggttggaagggtctg	18	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75408049C>G	uc001jut.3	-	4	1513	c.1361G>C	c.(1360-1362)GGT>GCT	p.G454A	SYNPO2L_uc001jus.3_Missense_Mutation_p.G230A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	454	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					CGGGGCTCCACCACCTGGTTG	0.657													G	75408049	C	G	75408049	3	3	274	1	0	0	0	0	1	0	0	0	15455	507	18	5	1576	5	SYNPO2L	10	75408049	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	173318	75408049	60126698	887	140193											
SEC24C	9632	broad.mit.edu	37	chr10	75525936	75525936	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgttaggctcctctgtgaGgagctcaagtcactgttaga	11	9	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:75525936G>T	uc001juw.2	+	12	1754	c.1575G>T	c.(1573-1575)GAG>GAT	p.E525D	SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Missense_Mutation_p.E383D|SEC24C_uc001jux.2_Missense_Mutation_p.E525D|SEC24C_uc010qko.1_Missense_Mutation_p.E406D|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	525					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			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					TCCTCTGTGAGGAGCTCAAGT	0.468													T	75525936	G	T	75525936	3	4	274	1	0	0	0	0	1	0	0	0	13996	991	35	5	1613	5	SEC24C	10	75525936	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	117887	75525936	60008811	888	140194											
MYST4	23522	broad.mit.edu	37	chr10	76789444	76789444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagcccaagtgtccctgCtctggaaaacagctacgccc	8	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:76789444C>T	uc001jwn.1	+	18	5355	c.4862C>T	c.(4861-4863)GCT>GTT	p.A1621V	MYST4_uc001jwo.1_Missense_Mutation_p.A1329V|MYST4_uc001jwp.1_Missense_Mutation_p.A1438V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1621	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AGTGTCCCTGCTCTGGAAAAC	0.542			T	CREBBP	AML								T	76789444	C	T	76789444	3	4	274	1	0	0	0	0	1	0	0	0	10105	797	28	2	4924	2	MYST4	10	76789444	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1263508	76789444	58745303	889	140195											
KCNMA1	3778	broad.mit.edu	37	chr10	78944607	78944607	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgaagtagagaaggaagaAcacgttgaaagccatgtcga	13	7	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:78944607A>C	uc001jxn.2	-	4	847	c.670T>G	c.(670-672)TTC>GTC	p.F224V	KCNMA1_uc001jxj.2_Missense_Mutation_p.F224V|KCNMA1_uc001jxk.1_5'Flank|KCNMA1_uc009xrt.1_Missense_Mutation_p.F44V|KCNMA1_uc001jxo.2_Missense_Mutation_p.F224V|KCNMA1_uc001jxm.2_Missense_Mutation_p.F224V|KCNMA1_uc001jxq.2_Missense_Mutation_p.F224V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	224	Helical; Name=Segment S2; (Potential).				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			pancreas(2)|ovary(1)	3	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)	AGAAGGAAGAACACGTTGAAA	0.448													C	78944607	A	C	78944607	3	2	274	1	0	0	0	0	1	0	0	0	8073	43	2	5	3312	5	KCNMA1	10	78944607	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2155163	78944607	56590140	890	140196											
RPS24	6229	broad.mit.edu	37	chr10	79795119	79795119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttttcagaacgacaccGtaactatccgcactagaaag	7	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:79795119G>A	uc001jzq.2	+	2	155	c.13G>A	c.(13-15)GTA>ATA	p.V5I	RPS24_uc001jzo.2_Missense_Mutation_p.V5I|RPS24_uc010qlo.1_Missense_Mutation_p.V5I|RPS24_uc001jzp.2_Missense_Mutation_p.V5I|RPS24_uc001jzs.2_Missense_Mutation_p.V5I|RPS24_uc001jzt.2_RNA	NM_001026	NP_001017	P62847	RS24_HUMAN	ribosomal protein S24 isoform c	5					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			skin(1)	1	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)			GAACGACACCGTAACTATCCG	0.398													A	79795119	G	A	79795119	3	1	274	1	0	0	0	0	1	0	0	0	13635	1145	40	1	19	1	RPS24	10	79795119	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	850512	79795119	55739628	891	140197											
ZMIZ1	57178	broad.mit.edu	37	chr10	81037036	81037036	+	Frame_Shift_Del	DEL	C	C	-													ctgggaaactccccatgcagCcccctctcagctccatgagc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:81037035_81037035GC>G	uc001kaf.2	+	7	950	c.378_378GC>G	c.(376-378)cagfs	p.Q126fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.Q2fs|ZMIZ1_uc001kah.1_Frame_Shift_Del_p.Q2fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	126					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)			TCCCCATGCAGCCCCCTCTCA	0.622													-	81037036	C	-	81037036	7	5	274	1	0	1	0	1	0	0	0	0	17693	739	26	0	393	0	ZMIZ1	10	81037036	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1241917	81037036	54497711	892	140198											
ZMIZ1	57178	broad.mit.edu	37	chr10	81061949	81061949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaagcgcctcctgcccgCagagcactgtatcacgaaaa	9	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:81061949C>T	uc001kaf.2	+	18	2677	c.2105C>T	c.(2104-2106)GCA>GTA	p.A702V	ZMIZ1_uc001kag.2_Missense_Mutation_p.A578V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	702					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	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)			CTCCTGCCCGCAGAGCACTGT	0.627													T	81061949	C	T	81061949	3	4	274	1	0	0	0	0	1	0	0	0	17693	710	25	2	2159	2	ZMIZ1	10	81061949	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	24913	81061949	54472798	893	140199											
LRIT1	26103	broad.mit.edu	37	chr10	86001144	86001144	+	Frame_Shift_Del	DEL	G	G	-													ggggcagaagccccgggcctGggggggccacgcaagggcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:86001144delG	uc001kcz.1	-	1	74	c.52delC	c.(52-54)CAGfs	p.Q18fs		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	18						integral to endoplasmic reticulum membrane					0						CCCCGGGCCTGGGGGGGCCAC	0.672													-	86001144	G	-	86001144	7	5	274	1	0	1	0	1	0	0	0	0	8947	1357	47	0	1835	0	LRIT1	10	86001144	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	4939195	86001144	49533603	894	140200											
MMRN2	79812	broad.mit.edu	37	chr10	88702426	88702426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacattcttgacgtcgttGctcaggctctggagctcccg	11	14	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:88702426G>A	uc001kea.2	-	6	2242	c.2115C>T	c.(2113-2115)AGC>AGT	p.S705S	MMRN2_uc010qmn.1_Silent_p.S348S|MMRN2_uc009xtb.2_Silent_p.S662S	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	705	Potential.					extracellular space				large_intestine(1)	1						TGACGTCGTTGCTCAGGCTCT	0.751													A	88702426	G	A	88702426	2	1	274	1	0	0	0	0	0	0	0	1	9671	1310	46	2		2	MMRN2	10	88702426	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2701282	88702426	46832321	895	140201											
AGAP11	119385	broad.mit.edu	37	chr10	88769344	88769344	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctttctggccccactaccCtgcactgagctgtccctggg	9	17	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:88769344C>A	uc001kee.2	+	12	2539	c.1335C>A	c.(1333-1335)CCC>CCA	p.P445P	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	445	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CCCCACTACCCTGCACTGAGC	0.607													A	88769344	C	A	88769344	2	1	274	1	0	0	0	0	0	0	0	1	367	668	24	5		5	AGAP11	10	88769344	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	66918	88769344	46765403	896	140202											
TNKS2	80351	broad.mit.edu	37	chr10	93579297	93579297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattaaatgtcaactgccacGcaagtgatggcagaaaggta	10	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:93579297G>A	uc001khp.2	+	5	913	c.616G>A	c.(616-618)GCA>ACA	p.A206T		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	206					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			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				CAACTGCCACGCAAGTGATGG	0.348													A	93579297	G	A	93579297	3	1	274	1	0	0	0	0	1	0	0	0	16318	1087	38	1	634	1	TNKS2	10	93579297	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4809953	93579297	41955450	897	140203											
TBC1D12	23232	broad.mit.edu	37	chr10	96291116	96291116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggactttattcatataGcacagtttctaactaaattg	6	6	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:96291116G>A	uc001kjr.2	+	12	2343	c.2158G>A	c.(2158-2160)GCA>ACA	p.A720T		NM_015188	NP_056003	O60347	TBC12_HUMAN	TBC1 domain family, member 12	720						intracellular	Rab GTPase activator activity				0		Colorectal(252;0.0429)				TATTCATATAGCACAGTTTCT	0.368													A	96291116	G	A	96291116	3	1	274	1	0	0	0	0	1	0	0	0	15598	971	34	2	2204	2	TBC1D12	10	96291116	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2711819	96291116	39243631	898	140204											
ENTPD1	953	broad.mit.edu	37	chr10	97605234	97605234	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccaaaaccagactatcgagTccccagataatgctctgcaa	6	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:97605234T>A	uc001klh.3	+	6	1018	c.694T>A	c.(694-696)TCC>ACC	p.S232T	ENTPD1_uc001kle.1_Missense_Mutation_p.S239T|ENTPD1_uc001kli.3_Missense_Mutation_p.S239T|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.S244T|ENTPD1_uc010qok.1_Missense_Mutation_p.S124T|ENTPD1_uc010qol.1_Missense_Mutation_p.S124T|ENTPD1_uc010qom.1_Missense_Mutation_p.S232T|ENTPD1_uc010qon.1_Missense_Mutation_p.S94T|ENTPD1_uc009xva.2_Missense_Mutation_p.S94T|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	232	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GACTATCGAGTCCCCAGATAA	0.468													A	97605234	T	A	97605234	3	1	274	1	0	0	0	0	1	0	0	0	5138	1667	58	5	813	5	ENTPD1	10	97605234	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1314118	97605234	37929513	899	140205											
COX15	1355	broad.mit.edu	37	chr10	101489441	101489441	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagattgcaaagctacttcAgagatggtgctgtattgccc	10	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:101489441A>G	uc001kqb.3	-	2	758	c.141T>C	c.(139-141)TCT>TCC	p.S47S	COX15_uc001kqc.3_Silent_p.S47S|COX15_uc010qpj.1_5'UTR|CUTC_uc010qpk.1_5'Flank|CUTC_uc001kqd.3_5'Flank|CUTC_uc001kqe.3_5'Flank	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	47					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AAGCTACTTCAGAGATGGTGC	0.532													G	101489441	A	G	101489441	2	3	274	1	0	0	0	0	0	0	0	1	3764	175	7	3		3	COX15	10	101489441	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	3884207	101489441	34045306	900	140206											
SCD	6319	broad.mit.edu	37	chr10	102107859	102107859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccaccaccattacagcGcctccctccagggtcctgca	6	20	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102107859G>A	uc001kqy.2	+	2	556	c.66G>A	c.(64-66)GCG>GCA	p.A22A		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	22	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CCATTACAGCGCCTCCCTCCA	0.532													A	102107859	G	A	102107859	2	1	274	1	0	0	0	0	0	0	0	1	13886	1074	38	1		1	SCD	10	102107859	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	618418	102107859	33426888	901	140207											
SEC31B	25956	broad.mit.edu	37	chr10	102255279	102255279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttgagcatgaaaaagccGatctcttagctgctgaactg	9	10	1	3	rs148539684	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102255279G>A	uc001krc.1	-	19	2437	c.2335C>T	c.(2335-2337)CGG>TGG	p.R779W	SEC31B_uc010qpo.1_Missense_Mutation_p.R778W|SEC31B_uc001krd.1_Missense_Mutation_p.R316W|SEC31B_uc001krf.1_Missense_Mutation_p.R316W|SEC31B_uc001kre.1_Missense_Mutation_p.R316W|SEC31B_uc001krg.1_Missense_Mutation_p.R348W	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	779					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAAAAAGCCGATCTCTTAGC	0.483													A	102255279	G	A	102255279	3	1	274	1	0	0	0	0	1	0	0	0	13999	1057	37	1	1236	1	SEC31B	10	102255279	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	147420	102255279	33279468	902	140208											
PAX2	5076	broad.mit.edu	37	chr10	102509529	102509530	+	Frame_Shift_Ins	INS	-	-	G													cgggggtgtgaaccagctcgINSggggggtgtttgtgaacggc					rs75462234		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102509528_102509529C>CG	uc001krk.4	+	1	619_620	c.69_70C>CG	c.(67-72)ctcgggfs	p.L23fs	PAX2_uc001krm.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001krn.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001kro.4_Frame_Shift_Ins_p.L23fs|PAX2_uc010qps.2_Frame_Shift_Ins_p.L22fs|PAX2_uc001krl.4_Frame_Shift_Ins_p.L23fs|PAX2_uc001krp.1_Frame_Shift_Ins_p.L27fs	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	23	Paired.				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)		TGAACCAGCTCGGGGGGGTGTT	0.663													G	102509530	-	G	102509529	7	5	274	1	0	1	1	0	0	0	0	0	11479	1116	39	0	76	0	PAX2	10	102509529	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	254250	102509529	33025218	903	140209											
TLX1	3195	broad.mit.edu	37	chr10	102893954	102893954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccctatcagaaccggacGccccccaagaagaagaagcc	8	17	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:102893954G>A	uc001ksw.2	+	2	829	c.591G>A	c.(589-591)ACG>ACA	p.T197T		NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAACCGGACGCCCCCCAAGA	0.627			T	TRB@|TRD@	T-ALL								A	102893954	G	A	102893954	2	1	274	1	0	0	0	0	0	0	0	1	15956	1074	38	1		1	TLX1	10	102893954	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	384425	102893954	32640793	904	140210											
PSD	5662	broad.mit.edu	37	chr10	104174959	104174959	+	Frame_Shift_Del	DEL	G	G	-													agcccaccccaggtggagatGggggggcctgctctgggggc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:104174959delG	uc001kvg.1	-	4	1312	c.785delC	c.(784-786)CCAfs	p.P262fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P262fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	262					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGTGGAGATGGGGGGGCCTG	0.627													-	104174959	G	-	104174959	7	5	274	1	0	1	0	1	0	0	0	0	12646	1348	47	0	2345	0	PSD	10	104174959	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	1281005	104174959	31359788	905	140211											
TRIM8	81603	broad.mit.edu	37	chr10	104415048	104415048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgctctttgataagaCggaggatgtcagcttcatga	12	8	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:104415048C>T	uc001kvz.2	+	3	1001	c.878C>T	c.(877-879)ACG>ATG	p.T293M		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	293						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTTGATAAGACGGAGGATGTC	0.597													T	104415048	C	T	104415048	3	4	274	1	0	0	0	0	1	0	0	0	16545	536	19	1	888	1	TRIM8	10	104415048	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	240089	104415048	31119699	906	140212											
MXI1	4601	broad.mit.edu	37	chr10	111967674	111967674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgcgccccagcccccGgccctgcccgaggaccccgc	13	23	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:111967674G>A	uc001kyy.2	+	1	312	c.108G>A	c.(106-108)CCG>CCA	p.P36P	MXI1_uc001kyz.2_5'Flank	NM_130439	NP_569157	P50539	MXI1_HUMAN	MAX interactor 1 isoform b	48					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0		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)		cccagcccccggccctgcccG	0.448													A	111967674	G	A	111967674	2	1	274	1	0	0	0	0	0	0	0	1	10002	1103	39	1		1	MXI1	10	111967674	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	7552626	111967674	23567073	907	140213											
ACSL5	51703	broad.mit.edu	37	chr10	114136195	114136196	+	Frame_Shift_Ins	INS	-	-	C													gaagcactgagagatgcggcINScccctcgcagggtaagggga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:114136194_114136195G>GC	uc001kzu.3	+	0	239_240	c.127_128G>GC	c.(127-129)gccfs	p.A43fs	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					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)		GAGAGATGCGGCCCCCTCGCAG	0.609													C	114136196	-	C	114136195	7	5	274	1	0	1	1	0	0	0	0	0	180	739	26	0	130	0	ACSL5	10	114136195	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	2168521	114136195	21398552	908	140214											
ABLIM1	3983	broad.mit.edu	37	chr10	116444084	116444084	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgatgagggtccgtgAgctcagtcatttccaaggtc	14	8	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:116444084A>C	uc010qsh.1	-	1	331	c.29T>G	c.(28-30)CTC>CGC	p.L10R	ABLIM1_uc010qsi.1_Missense_Mutation_p.L10R|ABLIM1_uc009xyp.2_Missense_Mutation_p.L4R|ABLIM1_uc001lbz.1_Intron	NM_001003408	NP_001003408	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform c	Error:Variant_position_missing_in_O14639_after_alignment					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGGGTCCGTGAGCTCAGTCAT	0.463													C	116444084	A	C	116444084	3	2	274	1	0	0	0	0	1	0	0	0	94	304	11	5	2551	5	ABLIM1	10	116444084	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2307889	116444084	19090663	909	140215											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118385521	118385521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactggaccgcaagacacGcttcatcatccatggcttct	7	15	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:118385521G>A	uc001lcq.2	+	6	295	c.272G>A	c.(271-273)CGC>CAC	p.R91H	PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	90					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			large_intestine(1)	1				all cancers(201;0.015)		CGCAAGACACGCTTCATCATC	0.502													A	118385521	G	A	118385521	3	1	274	1	0	0	0	0	1	0	0	0	12151	1087	38	1	285	1	PNLIPRP2	10	118385521	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1941437	118385521	17149226	910	140216											
HSPA12A	259217	broad.mit.edu	37	chr10	118434729	118434729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtgagcggcgaccggcGcaccttgatgaccgcggggt	18	11	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:118434729G>A	uc001lct.2	-	12	1696	c.1591C>T	c.(1591-1593)CGC>TGC	p.R531C	HSPA12A_uc001lcu.2_Missense_Mutation_p.R448C	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	531							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GGCGACCGGCGCACCTTGATG	0.652													A	118434729	G	A	118434729	3	1	274	1	0	0	0	0	1	0	0	0	7404	1087	38	1	440	1	HSPA12A	10	118434729	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	49208	118434729	17100018	911	140217											
PDZD8	118987	broad.mit.edu	37	chr10	119042898	119042898	+	Frame_Shift_Del	DEL	T	T	-													atcatctgtgtacttgcttaTttttttggagtgctggtcta							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:119042898delT	uc001lde.1	-	5	3545	c.3346delA	c.(3346-3348)ATAfs	p.I1116fs		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1116					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TACTTGCTTATTTTTTTGGAG	0.368													-	119042898	T	-	119042898	7	5	274	1	0	1	0	1	0	0	0	0	11705	1493	52	0	122	0	PDZD8	10	119042898	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	608169	119042898	16491849	912	140218											
C10orf120	399814	broad.mit.edu	37	chr10	124457714	124457714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaatgtagggtaaaggCtgatgatttcccagagcccg	11	9	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:124457714C>A	uc001lgn.2	-	3	575	c.543G>T	c.(541-543)CAG>CAT	p.Q181H		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	181										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				AGGGTAAAGGCTGATGATTTC	0.502													A	124457714	C	A	124457714	3	1	274	1	0	0	0	0	1	0	0	0	1590	796	28	5	468	5	C10orf120	10	124457714	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5414816	124457714	11077033	913	140219											
IKZF5	64376	broad.mit.edu	37	chr10	124754218	124754218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcaaatggacaaagaTgacatcgatgaggtttttca	10	6	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:124754218T>C	uc001lha.2	-	5	637	c.338A>G	c.(337-339)CAT>CGT	p.H113R	IKZF5_uc001lgz.2_5'Flank	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	zinc finger protein, subfamily 1A, 5	113	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGGACAAAGATGACATCGATG	0.383													C	124754218	T	C	124754218	3	2	274	1	0	0	0	0	1	0	0	0	7618	1464	51	3	925	3	IKZF5	10	124754218	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	296504	124754218	10780529	914	140220											
ACADSB	36	broad.mit.edu	37	chr10	124800748	124800748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtttctgcctttcagaGgctggagcaggtagtgactc	14	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:124800748G>T	uc001lhb.2	+	5	651	c.534G>T	c.(532-534)GAG>GAT	p.E178D	ACADSB_uc010qub.1_Missense_Mutation_p.E76D	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	178	FAD.				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCCTTTCAGAGGCTGGAGCAG	0.378													T	124800748	G	T	124800748	3	4	274	1	0	0	0	0	1	0	0	0	115	991	35	5	552	5	ACADSB	10	124800748	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	46530	124800748	10733999	915	140221											
ZRANB1	54764	broad.mit.edu	37	chr10	126671767	126671767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaagcttggagcagacGcacatttttgtactggcaca	12	9	0	1	rs75293113	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:126671767G>A	uc001lic.2	+	7	1943	c.1572G>A	c.(1570-1572)ACG>ACA	p.T524T	ZRANB1_uc010qug.1_Silent_p.T550T	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	524	OTU.|TRAF-binding.				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			ovary(1)|kidney(1)	2		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)		TGGAGCAGACGCACATTTTTG	0.363													A	126671767	G	A	126671767	2	1	274	1	0	0	0	0	0	0	0	1	18219	1074	38	1		1	ZRANB1	10	126671767	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1871019	126671767	8862980	916	140222											
DPYSL4	10570	broad.mit.edu	37	chr10	134010562	134010562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatccgggacctgggggCcttggcccaggtgcacgctg	15	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:134010562C>T	uc009ybb.2	+	6	732	c.578C>T	c.(577-579)GCC>GTC	p.A193V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	193					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		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)		GACCTGGGGGCCTTGGCCCAG	0.692													T	134010562	C	T	134010562	3	4	274	1	0	0	0	0	1	0	0	0	4749	739	26	2	600	2	DPYSL4	10	134010562	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7338795	134010562	1524185	917	140223											
KNDC1	85442	broad.mit.edu	37	chr10	135024207	135024207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacttcctcctcgaccGcatcaacagcacgctgacca	6	19	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:135024207G>A	uc001llz.1	+	21	3888	c.3887G>A	c.(3886-3888)CGC>CAC	p.R1296H		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1296	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		CTCCTCGACCGCATCAACAGC	0.622													A	135024207	G	A	135024207	3	1	274	1	0	0	0	0	1	0	0	0	8426	1087	38	1	3969	1	KNDC1	10	135024207	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1013645	135024207	510540	918	140224											
KNDC1	85442	broad.mit.edu	37	chr10	135032588	135032588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatggaggagctgaaagcCgtggaggtaccagcacttta	14	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr10:135032588C>T	uc001llz.1	+	28	4855	c.4854C>T	c.(4852-4854)GCC>GCT	p.A1618A		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1618	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		AGCTGAAAGCCGTGGAGGTAC	0.617													T	135032588	C	T	135032588	2	4	274	1	0	0	0	0	0	0	0	1	8426	639	23	1		1	KNDC1	10	135032588	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8381	135032588	502159	919	140225											
SIGIRR	59307	broad.mit.edu	37	chr11	408790	408790	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggagcagtggggcccagaGactacccaagccgtgcagtt	15	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:408790G>T	uc001lpd.2	-	3	441	c.111C>A	c.(109-111)GTC>GTA	p.V37V	SIGIRR_uc001lpf.2_Silent_p.V37V|SIGIRR_uc001lpe.1_Silent_p.V37V|SIGIRR_uc001lpg.2_Silent_p.V37V	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	37	Ig-like C2-type.|Extracellular (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		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)		GGGGCCCAGAGACTACCCAAG	0.607													T	408790	G	T	408790	2	4	274	1	0	0	0	0	0	0	0	1	14304	929	33	5		5	SIGIRR	11	408790	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		408790	134597726	920	140226											
LRRC56	115399	broad.mit.edu	37	chr11	554076	554076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacctgcagtccagggggCgtcggctccgagtcctgggc	16	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:554076C>T	uc010qvz.1	+	14	1934	c.1429C>T	c.(1429-1431)CGT>TGT	p.R477C		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	477										skin(1)	1		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)		GTCCAGGGGGCGTCGGCTCCG	0.697													T	554076	C	T	554076	3	4	274	1	0	0	0	0	1	0	0	0	9012	768	27	1	1471	1	LRRC56	11	554076	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	145286	554076	134452440	921	140227											
AP2A2	161	broad.mit.edu	37	chr11	970244	970244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctttctccttggtcatgAcattgactttggacacatgg	8	10	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:970244A>G	uc001lss.2	+	3	393	c.212A>G	c.(211-213)GAC>GGC	p.D71G	AP2A2_uc001lst.1_Missense_Mutation_p.D71G|AP2A2_uc009yco.1_RNA|AP2A2_uc001lsu.1_5'Flank	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	71	Lipid-binding.				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				0		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)		CTTGGTCATGACATTGACTTT	0.468													G	970244	A	G	970244	3	3	274	1	0	0	0	0	1	0	0	0	740	275	10	3	222	3	AP2A2	11	970244	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	416168	970244	134036272	922	140228											
MUC5B	727897	broad.mit.edu	37	chr11	1158129	1158129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaggaccactgtgtggCcggctgcttctgccctgagg	15	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:1158129C>A	uc009ycr.1	+	10	1235	c.1109C>A	c.(1108-1110)GCC>GAC	p.A370D		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CACTGTGTGGCCGGCTGCTTC	0.657													A	1158129	C	A	1158129	3	1	274	1	0	0	0	0	1	0	0	0	9979	754	26	5		5	MUC5B	11	1158129	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	187885	1158129	133848387	923	140229											
MUC5B	727897	broad.mit.edu	37	chr11	1162089	1162089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgttcatgcagctggcGcccaagctccgtgggcagac	13	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:1162089G>A	uc009ycr.1	+	15	1806	c.1680G>A	c.(1678-1680)GCG>GCA	p.A560A		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		TGCAGCTGGCGCCCAAGCTCC	0.637													A	1162089	G	A	1162089	2	1	274	1	0	0	0	0	0	0	0	1	9979	1102	38	1		1	MUC5B	11	1162089	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3960	1162089	133844427	924	140230											
MUC5B	727897	broad.mit.edu	37	chr11	1261607	1261607	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccccactccacgacaagTaagccctgcctggctctcct	7	19	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:1261607T>C	uc009ycr.1	+	46	6175	c.6049_splice	c.e46+2	p.S2017_splice	MUC5B_uc001ltb.2_Splice_Site_p.S1327_splice	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CCACGACAAGTAAGCCCTGCC	0.617													C	1261607	T	C	1261607	5	2	274	1	0	0	0	0	0	0	1	0	9979	1652	57	3	4099	3	MUC5B	11	1261607	Splice_Site	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	99518	1261607	133744909	925	140231											
IGF2	3481	broad.mit.edu	37	chr11	2156684	2156684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactggggcggtaagcagCaatgcagcacgaggcgaagg	16	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:2156684C>T	uc009yde.2	-	2	173	c.70G>A	c.(70-72)GCT>ACT	p.A24T	IGF2_uc001lvf.2_5'Flank|IGF2_uc001lvg.2_Missense_Mutation_p.A24T|IGF2_uc009ydf.2_Missense_Mutation_p.A80T|IGF2_uc001lvh.2_Missense_Mutation_p.A24T|INS-IGF2_uc001lvi.2_RNA|MIR483_hsa-mir-483|MI0002467_5'Flank|INS-IGF2_uc001lvj.1_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	24					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)	1		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)		CGGTAAGCAGCAATGCAGCAC	0.617													T	2156684	C	T	2156684	3	4	274	1	0	0	0	0	1	0	0	0	7572	710	25	2	484	2	IGF2	11	2156684	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	895077	2156684	132849832	926	140232											
PGAP2	27315	broad.mit.edu	37	chr11	3846314	3846314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatctccttcttctcggCgctggctgtctactttcggc	8	15	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:3846314C>T	uc001lys.2	+	6	899	c.773C>T	c.(772-774)GCG>GTG	p.A258V	PGAP2_uc001lyl.2_Missense_Mutation_p.A215V|PGAP2_uc010qxw.1_Missense_Mutation_p.A315V|PGAP2_uc010qxx.1_Silent_p.G238G|PGAP2_uc001lyp.3_Silent_p.G124G|PGAP2_uc010qxy.1_Missense_Mutation_p.A250V|PGAP2_uc010qxz.1_Missense_Mutation_p.A254V|PGAP2_uc001lyn.3_Silent_p.G150G|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Silent_p.G221G|PGAP2_uc010qyb.1_Silent_p.G200G|PGAP2_uc001lyt.2_Missense_Mutation_p.A41V	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	258	Helical; (Potential).				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						TTCTTCTCGGCGCTGGCTGTC	0.547											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3846314	C	T	3846314	3	4	274	1	0	0	0	0	1	0	0	0	11778	768	27	1	970	1	PGAP2	11	3846314	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1689630	3846314	131160202	927	140233											
RHOG	391	broad.mit.edu	37	chr11	3849243	3849243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgtcaactgcgctctgCgcgctgtaattgtcgaacac	10	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:3849243C>T	uc001lyu.2	-	2	284	c.126G>A	c.(124-126)GCG>GCA	p.A42A		NM_001665	NP_001656	P84095	RHOG_HUMAN	ras homolog gene family, member G precursor	42					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTGCGCTCTGCGCGCTGTAAT	0.587													T	3849243	C	T	3849243	2	4	274	1	0	0	0	0	0	0	0	1	13339	755	27	1		1	RHOG	11	3849243	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2929	3849243	131157273	928	140234											
TRIM21	6737	broad.mit.edu	37	chr11	4409697	4409697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctctgttcttcttcaaCcaggaagtttttttgctgca	7	11	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:4409697C>T	uc001lyy.1	-	4	681	c.568G>A	c.(568-570)GTT>ATT	p.V190I		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	190	Potential.				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			ovary(3)|lung(1)	4		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)		TCTTCTTCAACCAGGAAGTTT	0.498													T	4409697	C	T	4409697	3	4	274	1	0	0	0	0	1	0	0	0	16492	507	18	4	875	4	TRIM21	11	4409697	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	560454	4409697	130596819	929	140235											
TRIM21	6737	broad.mit.edu	37	chr11	4411368	4411368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccatgcactgcacacCgttccccctgtgtgccctct	6	19	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:4411368C>T	uc001lyy.1	-	2	385	c.272G>A	c.(271-273)CGG>CAG	p.R91Q		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	91					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			ovary(3)|lung(1)	4		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)		CACTGCACACCGTTCCCCCTG	0.547													T	4411368	C	T	4411368	3	4	274	1	0	0	0	0	1	0	0	0	16492	652	23	1	1179	1	TRIM21	11	4411368	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1671	4411368	130595148	930	140236											
OR52A4	390053	broad.mit.edu	37	chr11	5142185	5142185	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcccaccaacaataaaTgctccaaggataccatagac	5	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:5142185T>C	uc001lzz.1	-	1	624	c.624A>G	c.(622-624)GCA>GCG	p.A208A		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAACAATAAATGCTCCAAGGA	0.413													C	5142185	T	C	5142185	2	2	274	1	0	0	0	0	0	0	0	1	11109	1451	51	3		3	OR52A4	11	5142185	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	730817	5142185	129864331	931	140237											
HBB	3043	broad.mit.edu	37	chr11	5248202	5248202	+	Frame_Shift_Del	DEL	C	C	-													cttcatccacgttcaccttgCcccacagggcagtaacggca					rs35662066		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:5248201_5248201GC>G	uc001mae.1	-	0	101	c.51_51GC>C	c.(49-51)ggcfs	p.G17fs	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	17			G -> D (in J-Baltimore/J-Trinidad/J- Ireland/J-Georgia/N-New Haven).|G -> R (in D-Bushman).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		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)	Iron Dextran(DB00893)	CGTTCACCTTGCCCCACAGGG	0.507									Sickle Cell Trait				-	5248202	C	-	5248202	7	5	274	1	0	1	0	1	0	0	0	0	6978	739	26	0	405	0	HBB	11	5248202	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	106017	5248202	129758314	932	140238											
OR52N1	79473	broad.mit.edu	37	chr11	5810019	5810019	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggatgaatgaagctggagTtaggctggtgccatttagaa	14	4	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:5810019T>A	uc010qzo.1	-	1	28	c.28A>T	c.(28-30)ACT>TCT	p.T10S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		GAAGCTGGAGTTAGGCTGGTG	0.408													A	5810019	T	A	5810019	3	1	274	1	0	0	0	0	1	0	0	0	11127	1725	60	5	937	5	OR52N1	11	5810019	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	561817	5810019	129196497	933	140239											
CCKBR	887	broad.mit.edu	37	chr11	6291368	6291368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggccatcgcactggagCggtacagcgccatctgccga	13	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:6291368C>T	uc001mcp.2	+	3	647	c.454C>T	c.(454-456)CGG>TGG	p.R152W	CCKBR_uc001mcq.2_Missense_Mutation_p.R80W|CCKBR_uc001mcr.2_Missense_Mutation_p.R152W|CCKBR_uc001mcs.2_Missense_Mutation_p.R152W	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	152	Cytoplasmic (Potential).				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			lung(5)|ovary(2)|breast(1)	8		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)	CGCACTGGAGCGGTACAGCGC	0.597													T	6291368	C	T	6291368	3	4	274	1	0	0	0	0	1	0	0	0	2881	759	27	1	464	1	CCKBR	11	6291368	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	481349	6291368	128715148	934	140240											
HPX	3263	broad.mit.edu	37	chr11	6461447	6461447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgcagcatccacagggCtggggaaattcttccatctc	11	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:6461447C>T	uc001mdg.2	-	4	345	c.284G>A	c.(283-285)AGC>AAC	p.S95N	HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.S95N	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	95	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATCCACAGGGCTGGGGAAATT	0.522													T	6461447	C	T	6461447	3	4	274	1	0	0	0	0	1	0	0	0	7346	797	28	2	1132	2	HPX	11	6461447	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	170079	6461447	128545069	935	140241											
SYT9	143425	broad.mit.edu	37	chr11	7334896	7334896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggacttttctgggacttcAgatccttatgtcaagatcta	8	8	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:7334896A>G	uc001mfe.2	+	3	1005	c.768A>G	c.(766-768)TCA>TCG	p.S256S	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	256	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGGGACTTCAGATCCTTATG	0.393													G	7334896	A	G	7334896	2	3	274	1	0	0	0	0	0	0	0	1	15478	175	7	3		3	SYT9	11	7334896	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	873449	7334896	127671620	936	140242											
OR5P2	120065	broad.mit.edu	37	chr11	7817741	7817741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacataaatgaaggtaatgGtcccatagaacagggtaacc	9	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:7817741G>A	uc001mfp.1	-	1	749	c.749C>T	c.(748-750)ACC>ATC	p.T250I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGGTAATGGTCCCATAGAA	0.502													A	7817741	G	A	7817741	3	1	274	1	0	0	0	0	1	0	0	0	11178	1261	44	4	223	4	OR5P2	11	7817741	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	482845	7817741	127188775	937	140243											
NLRP10	338322	broad.mit.edu	37	chr11	7982833	7982833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctgccattcctctAggcagcgcacatgctctcgg	9	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:7982833A>G	uc001mfv.1	-	2	343	c.326T>C	c.(325-327)CTA>CCA	p.L109P		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	109							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTCCTCTAGGCAGCGCAC	0.517													G	7982833	A	G	7982833	3	3	274	1	0	0	0	0	1	0	0	0	10472	420	15	3	1645	3	NLRP10	11	7982833	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	165092	7982833	127023683	938	140244											
ST5	6764	broad.mit.edu	37	chr11	8751553	8751553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtctccgggtgactggCggggctggggtggagggcaa	22	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:8751553C>T	uc001mgt.2	-	3	1470	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.P428P|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.P428P	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	428	Pro-rich.|Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGGTGACTGGCGGGGCTGGGG	0.592													T	8751553	C	T	8751553	2	4	274	1	0	0	0	0	0	0	0	1	15219	755	27	1		1	ST5	11	8751553	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	768720	8751553	126254963	939	140245											
SBF2	81846	broad.mit.edu	37	chr11	10051398	10051398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcaggctgtccacatacaCggtatagatcaaacccaggc	8	12	2	1	rs142469360		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10051398C>T	uc001mib.2	-	5	565	c.427G>A	c.(427-429)GTG>ATG	p.V143M	SBF2_uc001mif.3_Translation_Start_Site|SBF2_uc001mij.2_RNA	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	143	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCCACATACACGGTATAGATC	0.403													T	10051398	C	T	10051398	3	4	274	1	0	0	0	0	1	0	0	0	13859	536	19	1	5266	1	SBF2	11	10051398	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1299845	10051398	124955118	940	140246											
ADM	133	broad.mit.edu	37	chr11	10328154	10328155	+	Frame_Shift_Ins	INS	-	-	C													caagcacacggggctccagcINSccccccgagtggaagtgctc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10328153_10328154G>GC	uc001mil.1	+	3	679_680	c.523_524G>GC	c.(523-525)gccfs	p.A175fs		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	175					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	p.S178fs*>9(1)		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)		CGGGGCTCCAGCCCCCCCGAGT	0.678													C	10328155	-	C	10328154	7	5	274	1	0	1	1	0	0	0	0	0	321	739	26	0	534	0	ADM	11	10328154	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	276756	10328154	124678362	941	140247											
AMPD3	272	broad.mit.edu	37	chr11	10517270	10517270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctggatcatccaggtgCcccggatttagtaagtgagg	14	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10517270C>T	uc001mio.1	+	9	1755	c.1420C>T	c.(1420-1422)CCC>TCC	p.P474S	AMPD3_uc010rbz.1_Missense_Mutation_p.P315S|AMPD3_uc001min.1_Missense_Mutation_p.P483S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.P481S|AMPD3_uc009yfy.2_Missense_Mutation_p.P474S	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	474					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCCAGGTGCCCCGGATTTA	0.587													T	10517270	C	T	10517270	3	4	274	1	0	0	0	0	1	0	0	0	587	739	26	2	1501	2	AMPD3	11	10517270	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	189116	10517270	124489246	942	140248											
RNF141	50862	broad.mit.edu	37	chr11	10546849	10546850	+	Frame_Shift_Del	DEL	TT	TT	-													gctgcttgacttgtgatatcTttataaagttgaataaactg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:10546848_10546849CTT>C	uc001mis.1	-	3	477_478	c.324_325AAG>G	c.(322-327)aaagatfs	p.K108fs	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	108							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)		CTTGTGATATCTTTATAAAGTT	0.376													-	10546850	TT	-	10546849	7	5	274	1	0	1	0	1	0	0	0	0	13444	1606	56	0	380	0	RNF141	11	10546849	Frame_Shift_Del	DEL	TT	TCGA-HU-A4GU-01A-11D-A25D-08	29579	10546849	124459667	943	140249											
USP47	55031	broad.mit.edu	37	chr11	11957978	11957978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggcttctactaggtggCgtcaagtcaacatatatgtt	11	7	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:11957978C>T	uc001mjq.1	+	18	2821	c.2058C>T	c.(2056-2058)GGC>GGT	p.G686G	USP47_uc001mjr.2_Silent_p.G598G|USP47_uc001mjs.2_Silent_p.G666G|USP47_uc001mjt.1_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	686					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			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		TACTAGGTGGCGTCAAGTCAA	0.398													T	11957978	C	T	11957978	2	4	274	1	0	0	0	0	0	0	0	1	17075	755	27	1		1	USP47	11	11957978	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1411129	11957978	123048538	944	140250											
USP47	55031	broad.mit.edu	37	chr11	11969622	11969622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaatcaagagtttgagagCgtccggctgaatgagacact	12	8	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:11969622C>T	uc001mjs.2	+	21	3985	c.3222C>T	c.(3220-3222)AGC>AGT	p.S1074S	USP47_uc001mjr.2_Silent_p.S1006S|USP47_uc009ygi.2_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1094					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			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		AGTTTGAGAGCGTCCGGCTGA	0.383													T	11969622	C	T	11969622	2	4	274	1	0	0	0	0	0	0	0	1	17075	767	27	1		1	USP47	11	11969622	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	11644	11969622	123036894	945	140251											
MICAL2	9645	broad.mit.edu	37	chr11	12234849	12234849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggcgattgccatcaccGccaacttcataaacagaaac	7	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:12234849G>A	uc001mjz.2	+	7	1027	c.739G>A	c.(739-741)GCC>ACC	p.A247T	MICAL2_uc010rch.1_Missense_Mutation_p.A247T|MICAL2_uc001mka.2_Missense_Mutation_p.A247T|MICAL2_uc010rci.1_Missense_Mutation_p.A247T|MICAL2_uc001mkb.2_Missense_Mutation_p.A247T|MICAL2_uc001mkc.2_Missense_Mutation_p.A247T|MICAL2_uc001mkd.2_Missense_Mutation_p.A76T|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	247						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TGCCATCACCGCCAACTTCAT	0.433													A	12234849	G	A	12234849	3	1	274	1	0	0	0	0	1	0	0	0	9570	1087	38	1	757	1	MICAL2	11	12234849	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	265227	12234849	122771667	946	140252											
MICAL2	9645	broad.mit.edu	37	chr11	12281414	12281414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttcttgcgcagtggccGccattggcaccctggaaggc	13	12	1	0	rs148517207		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:12281414G>A	uc001mjz.2	+	26	3592	c.3304G>A	c.(3304-3306)GCC>ACC	p.A1102T	MICAL2_uc010rch.1_Missense_Mutation_p.A912T|MICAL2_uc001mka.2_Missense_Mutation_p.A1102T|MICAL2_uc010rci.1_Missense_Mutation_p.A1081T|MICAL2_uc001mkb.2_Missense_Mutation_p.A876T|MICAL2_uc001mkc.2_Missense_Mutation_p.A855T|MICAL2_uc001mkd.2_Missense_Mutation_p.A684T|MICAL2_uc010rcj.1_Missense_Mutation_p.A314T|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	1102						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CGCAGTGGCCGCCATTGGCAC	0.597													A	12281414	G	A	12281414	3	1	274	1	0	0	0	0	1	0	0	0	9570	1087	38	1	3398	1	MICAL2	11	12281414	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	46565	12281414	122725102	947	140253											
LDHA	3939	broad.mit.edu	37	chr11	18422497	18422497	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaacatctttaaattcAtcattcctaatgttgtaaaa	4	7	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:18422497A>C	uc001mok.3	+	4	630	c.358A>C	c.(358-360)ATC>CTC	p.I120L	LDHA_uc010rdc.1_Intron|LDHA_uc009yhn.2_Missense_Mutation_p.I120L|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Missense_Mutation_p.I120L|LDHA_uc010rdd.1_Missense_Mutation_p.I149L	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	120					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)	CTTTAAATTCATCATTCCTAA	0.418													C	18422497	A	C	18422497	3	2	274	1	0	0	0	0	1	0	0	0	8698	217	8	5	459	5	LDHA	11	18422497	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6141083	18422497	116584019	948	140254											
MUC15	143662	broad.mit.edu	37	chr11	26586878	26586878	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggggtcacagatggagaAgttggttctgaagagaggat	17	3	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:26586878A>C	uc001mqx.2	-	2	794	c.528T>G	c.(526-528)ACT>ACG	p.T176T	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.T203T|MUC15_uc001mqy.2_Silent_p.T203T	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	176	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGATGGAGAAGTTGGTTCTG	0.433													C	26586878	A	C	26586878	2	2	274	1	0	0	0	0	0	0	0	1	9972	59	3	5		5	MUC15	11	26586878	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	8164381	26586878	108419638	949	140255											
ANO3	63982	broad.mit.edu	37	chr11	26664848	26664848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaatttgtcactcaatggCggaggcctttgccagcccga	10	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:26664848C>T	uc001mqt.3	+	23	2540	c.2395C>T	c.(2395-2397)CGG>TGG	p.R799W	ANO3_uc010rdr.1_Missense_Mutation_p.R783W|ANO3_uc010rds.1_Missense_Mutation_p.R638W|ANO3_uc010rdt.1_Missense_Mutation_p.R653W	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	799	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CACTCAATGGCGGAGGCCTTT	0.388													T	26664848	C	T	26664848	3	4	274	1	0	0	0	0	1	0	0	0	698	759	27	1	2485	1	ANO3	11	26664848	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	77970	26664848	108341668	950	140256											
PAX6	5080	broad.mit.edu	37	chr11	31822286	31822286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggataccaaccagggCgggtgccccagcttccggtc	12	17	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:31822286C>T	uc001mtd.3	-	6	1366	c.476G>A	c.(475-477)CGC>CAC	p.R159H	PAX6_uc001mte.3_Missense_Mutation_p.R159H|PAX6_uc001mtg.3_Missense_Mutation_p.R173H|PAX6_uc001mtf.3_Missense_Mutation_p.R159H|PAX6_uc001mth.3_Missense_Mutation_p.R159H|PAX6_uc009yjr.2_Missense_Mutation_p.R159H	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	159	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CCAACCAGGGCGGGTGCCCCA	0.567									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				T	31822286	C	T	31822286	3	4	274	1	0	0	0	0	1	0	0	0	11483	768	27	1	820	1	PAX6	11	31822286	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5157438	31822286	103184230	951	140257											
DEPDC7	91614	broad.mit.edu	37	chr11	33050184	33050184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagaagaaacaattgggCgtctactacaacttgtagac	10	8	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:33050184C>T	uc001mub.2	+	4	720	c.628C>T	c.(628-630)CGT>TGT	p.R210C	DEPDC7_uc001muc.2_Missense_Mutation_p.R201C	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	210					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						AACAATTGGGCGTCTACTACA	0.383													T	33050184	C	T	33050184	3	4	274	1	0	0	0	0	1	0	0	0	4444	768	27	1	692	1	DEPDC7	11	33050184	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1227898	33050184	101956332	952	140258											
ELF5	2001	broad.mit.edu	37	chr11	34527192	34527192	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgtctgatgctcaaaGgcagggtagtactcttcatt	10	10	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:34527192G>T	uc001mvo.1	-	2	365	c.135C>A	c.(133-135)GCC>GCA	p.A45A	ELF5_uc001mvp.1_Silent_p.A35A|ELF5_uc009ykd.1_Silent_p.A35A|ELF5_uc001mvq.1_Silent_p.A35A	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	45	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GATGCTCAAAGGCAGGGTAGT	0.552													T	34527192	G	T	34527192	2	4	274	1	0	0	0	0	0	0	0	1	5057	987	35	5		5	ELF5	11	34527192	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1477008	34527192	100479324	953	140259											
CD44	960	broad.mit.edu	37	chr11	35198160	35198160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgcaggtgtattccacGtggagaaaaatggtcgctac	12	8	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:35198160G>A	uc001mvu.2	+	2	540	c.106G>A	c.(106-108)GTG>ATG	p.V36M	CD44_uc001mvv.2_Missense_Mutation_p.V36M|CD44_uc001mvw.2_Missense_Mutation_p.V36M|CD44_uc001mvx.2_Missense_Mutation_p.V36M|CD44_uc001mvy.2_Missense_Mutation_p.V36M|CD44_uc001mwc.3_Missense_Mutation_p.V36M|CD44_uc010rer.1_Missense_Mutation_p.V36M|CD44_uc009ykh.2_RNA	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	36	Extracellular (Potential).|Link.				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			pancreas(1)	1	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)	TGTATTCCACGTGGAGAAAAA	0.443													A	35198160	G	A	35198160	3	1	274	1	0	0	0	0	1	0	0	0	3017	1145	40	1	112	1	CD44	11	35198160	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	670968	35198160	99808356	954	140260											
PAMR1	25891	broad.mit.edu	37	chr11	35515662	35515662	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtggatcaggcaggAgtcacactcattctcctcat	10	12	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:35515662A>G	uc001mwg.2	-	2	275	c.232T>C	c.(232-234)TCC>CCC	p.S78P	PAMR1_uc001mwf.2_Missense_Mutation_p.S78P|PAMR1_uc010rew.1_Missense_Mutation_p.S78P|PAMR1_uc010rex.1_Missense_Mutation_p.S38P	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	78	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ATCAGGCAGGAGTCACACTCA	0.507													G	35515662	A	G	35515662	3	3	274	1	0	0	0	0	1	0	0	0	11413	304	11	3	2025	3	PAMR1	11	35515662	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	317502	35515662	99490854	955	140261											
ACCSL	390110	broad.mit.edu	37	chr11	44081393	44081393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaaccctctagctatgCgtcggttctgtgatgtgctg	11	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:44081393C>T	uc001mxw.1	+	14	1686	c.1630C>T	c.(1630-1632)CGT>TGT	p.R544C	ACCSL_uc009ykr.2_Missense_Mutation_p.R363C	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	544							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TCTAGCTATGCGTCGGTTCTG	0.517													T	44081393	C	T	44081393	3	4	274	1	0	0	0	0	1	0	0	0	134	768	27	1	1684	1	ACCSL	11	44081393	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8565731	44081393	90925123	956	140262											
CHST1	8534	broad.mit.edu	37	chr11	45671251	45671251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggtcacgagaaggggCggaagtcccgctcctccacc	14	16	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45671251C>T	uc001mys.1	-	4	1894	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	408	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGAGAAGGGGCGGAAGTCCCG	0.632													T	45671251	C	T	45671251	3	4	274	1	0	0	0	0	1	0	0	0	3397	768	27	1	16	1	CHST1	11	45671251	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1589858	45671251	89335265	957	140263											
SLC35C1	55343	broad.mit.edu	37	chr11	45832610	45832610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggatgatgacgctgggCggcctgtttggctttgccat	17	8	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45832610C>T	uc001nbp.2	+	2	1531	c.819C>T	c.(817-819)GGC>GGT	p.G273G	SLC35C1_uc001nbo.2_Silent_p.G260G|SLC35C1_uc010rgm.1_Silent_p.G260G	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	273	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		TGACGCTGGGCGGCCTGTTTG	0.637													T	45832610	C	T	45832610	2	4	274	1	0	0	0	0	0	0	0	1	14579	755	27	1		1	SLC35C1	11	45832610	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	161359	45832610	89173906	958	140264											
PEX16	9409	broad.mit.edu	37	chr11	45936019	45936019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggagtgcagggacggcGctagaacacaagggcggcag	18	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45936019G>A	uc001nbu.2	-	7	854	c.542C>T	c.(541-543)ACG>ATG	p.T181M	PEX16_uc001nbt.2_Missense_Mutation_p.T181M	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	181	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		CAGGGACGGCGCTAGAACACA	0.692													A	45936019	G	A	45936019	3	1	274	1	0	0	0	0	1	0	0	0	11743	1101	38	1	581	1	PEX16	11	45936019	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	103409	45936019	89070497	959	140265											
PEX16	9409	broad.mit.edu	37	chr11	45937794	45937794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccacaggcaactttttcCgaagctccttccgtaggatc	7	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:45937794C>T	uc001nbu.2	-	3	521	c.209G>A	c.(208-210)CGG>CAG	p.R70Q	PEX16_uc001nbt.2_Missense_Mutation_p.R70Q	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	70	Cytoplasmic (Potential).|Required for peroxisomal location.				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		CAACTTTTTCCGAAGCTCCTT	0.542													T	45937794	C	T	45937794	3	4	274	1	0	0	0	0	1	0	0	0	11743	652	23	1	930	1	PEX16	11	45937794	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1775	45937794	89068722	960	140266											
DGKZ	8525	broad.mit.edu	37	chr11	46389218	46389218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaggagtcagcgacatatgGggagcacatctggttcgaga	14	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:46389218G>T	uc001ncn.1	+	4	979	c.854G>T	c.(853-855)GGG>GTG	p.G285V	DGKZ_uc001nch.1_Missense_Mutation_p.G113V|DGKZ_uc010rgq.1_Missense_Mutation_p.G62V|DGKZ_uc001ncj.1_Missense_Mutation_p.G62V|DGKZ_uc010rgr.1_Missense_Mutation_p.G61V|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.G96V|DGKZ_uc001ncm.2_Missense_Mutation_p.G96V|DGKZ_uc009yky.1_Missense_Mutation_p.G96V|DGKZ_uc010rgs.1_Missense_Mutation_p.G96V|DGKZ_uc001nci.1_Missense_Mutation_p.G62V	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	285					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|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCGACATATGGGGAGCACATC	0.647													T	46389218	G	T	46389218	3	4	274	1	0	0	0	0	1	0	0	0	4474	1232	43	5	1308	5	DGKZ	11	46389218	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	451424	46389218	88617298	961	140267											
F2	2147	broad.mit.edu	37	chr11	46748106	46748106	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggactcagacagggccatCgaagggcgtaccgccaccag	14	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:46748106C>T	uc001ndf.3	+	8	976	c.933C>T	c.(931-933)ATC>ATT	p.I311I	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	311					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			ovary(3)	3		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)	ACAGGGCCATCGAAGGGCGTA	0.632													T	46748106	C	T	46748106	2	4	274	1	0	0	0	0	0	0	0	1	5342	874	31	1		1	F2	11	46748106	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	358888	46748106	88258410	962	140268											
PACSIN3	29763	broad.mit.edu	37	chr11	47202114	47202114	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtggaaagccccccgctgCcaggcgcgcacccgctcact	12	19	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:47202114C>T	uc001ndw.2	-	5	677	c.339G>A	c.(337-339)TGG>TGA	p.W113*	PACSIN3_uc001ndx.2_Nonsense_Mutation_p.W113*|PACSIN3_uc001ndy.2_Nonsense_Mutation_p.W113*|PACSIN3_uc001ndz.2_RNA|PACSIN3_uc001nea.2_RNA	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	113					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0						CCCCCCGCTGCCAGGCGCGCA	0.716													T	47202114	C	T	47202114	4	4	274	1	0	0	0	0	0	1	0	0	11376	740	26	2	963	2	PACSIN3	11	47202114	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	454008	47202114	87804402	963	140269											
NR1H3	10062	broad.mit.edu	37	chr11	47282887	47282887	+	Frame_Shift_Del	DEL	C	C	-													tgccccccagggcttcctcaCccccccaaatcctgccccag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:47282887delC	uc009ylm.2	+	5	816	c.595delC	c.(595-597)CCCfs	p.P199fs	NR1H3_uc009yll.1_Frame_Shift_Del_p.P205fs|NR1H3_uc010rhk.1_Frame_Shift_Del_p.P205fs|NR1H3_uc001nek.2_Frame_Shift_Del_p.P154fs|NR1H3_uc001nej.2_Frame_Shift_Del_p.P199fs|NR1H3_uc001nel.2_Frame_Shift_Del_p.P154fs|NR1H3_uc001nen.3_Frame_Shift_Del_p.P199fs|NR1H3_uc001nem.2_Frame_Shift_Del_p.P199fs|NR1H3_uc001nep.2_Frame_Shift_Del_p.P108fs	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	199					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			ovary(2)|lung(1)	3						GGCTTCCTCACCCCCCCAAAT	0.592													-	47282887	C	-	47282887	7	5	274	1	0	1	0	1	0	0	0	0	10618	507	18	0	609	0	NR1H3	11	47282887	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	80773	47282887	87723629	964	140270											
FNBP4	23360	broad.mit.edu	37	chr11	47776173	47776173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcggaaacatcattgtcAtcgtcatcactgtcagcata	6	10	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:47776173A>G	uc009ylv.2	-	3	510	c.357T>C	c.(355-357)GAT>GAC	p.D119D	FNBP4_uc001ngj.2_Silent_p.D26D|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	119										ovary(1)	1						CATCATTGTCATCGTCATCAC	0.393													G	47776173	A	G	47776173	2	3	274	1	0	0	0	0	0	0	0	1	5967	214	8	3		3	FNBP4	11	47776173	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	493286	47776173	87230343	965	140271											
PTPRJ	5795	broad.mit.edu	37	chr11	48146561	48146561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggcagggagccccaccGcccctgtgcatgatgagtcc	14	16	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:48146561G>A	uc001ngp.3	+	6	1271	c.916G>A	c.(916-918)GCC>ACC	p.A306T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A306T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	306	Extracellular (Potential).|Fibronectin type-III 3.				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)|kidney(3)|ovary(1)|skin(1)	8						GAGCCCCACCGCCCCTGTGCA	0.587													A	48146561	G	A	48146561	3	1	274	1	0	0	0	0	1	0	0	0	12804	1087	38	1	938	1	PTPRJ	11	48146561	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	370388	48146561	86859955	966	140272											
PTPRJ	5795	broad.mit.edu	37	chr11	48152048	48152048	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacttccgagtgacagtggtCagcacgacggagatcggctt	14	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:48152048C>T	uc001ngp.3	+	8	1750	c.1395C>T	c.(1393-1395)GTC>GTT	p.V465V	PTPRJ_uc001ngo.3_Silent_p.V465V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	465	Extracellular (Potential).|Fibronectin type-III 5.				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)|kidney(3)|ovary(1)|skin(1)	8						TGACAGTGGTCAGCACGACGG	0.468													T	48152048	C	T	48152048	2	4	274	1	0	0	0	0	0	0	0	1	12804	813	29	4		4	PTPRJ	11	48152048	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5487	48152048	86854468	967	140273											
OR4X1	390113	broad.mit.edu	37	chr11	48285736	48285736	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccatttctttggtggcacTgaggcctttctcctgatggt	10	11	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:48285736T>G	uc010rht.1	+	1	324	c.324T>G	c.(322-324)ACT>ACG	p.T108T		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						TTGGTGGCACTGAGGCCTTTC	0.507													G	48285736	T	G	48285736	2	3	274	1	0	0	0	0	0	0	0	1	11084	1567	55	5		5	OR4X1	11	48285736	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	133688	48285736	86720780	968	140274											
OR4C46	119749	broad.mit.edu	37	chr11	51515685	51515685	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactatatgactatcatgaAccagtgtgtgtgtgccctgc	10	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:51515685A>C	uc010ric.1	+	1	404	c.404A>C	c.(403-405)AAC>ACC	p.N135T		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACTATCATGAACCAGTGTGTG	0.483													C	51515685	A	C	51515685	3	2	274	1	0	0	0	0	1	0	0	0	11051	43	2	5	406	5	OR4C46	11	51515685	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	3229949	51515685	83490831	969	140275											
OR5J2	282775	broad.mit.edu	37	chr11	55944805	55944805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcaggcagacagcaagccTtctccacctgtgcctctcac	7	17	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:55944805T>G	uc010rjb.1	+	1	712	c.712T>G	c.(712-714)TTC>GTC	p.F238V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					ACAGCAAGCCTTCTCCACCTG	0.463													G	55944805	T	G	55944805	3	3	274	1	0	0	0	0	1	0	0	0	11165	1609	56	5	714	5	OR5J2	11	55944805	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	4429120	55944805	79061711	970	140276											
OR5T3	390154	broad.mit.edu	37	chr11	56020329	56020329	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctccttgctatttcTtgttctgacactcacacaaa	3	15	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56020329T>G	uc010rjd.1	+	1	654	c.654T>G	c.(652-654)TCT>TCG	p.S218S		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398													G	56020329	T	G	56020329	2	3	274	1	0	0	0	0	0	0	0	1	11183	1596	56	5		5	OR5T3	11	56020329	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	75524	56020329	78986187	971	140277											
OR5M3	219482	broad.mit.edu	37	chr11	56237670	56237670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatggacaagagcaatgaAgaagaaacactgtactaaac	8	8	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56237670A>C	uc010rjk.1	-	1	304	c.304T>G	c.(304-306)TTC>GTC	p.F102V		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AGAGCAATGAAGAAGAAACAC	0.368													C	56237670	A	C	56237670	3	2	274	1	0	0	0	0	1	0	0	0	11175	72	3	5	621	5	OR5M3	11	56237670	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	217341	56237670	78768846	972	140278											
OR5M3	219482	broad.mit.edu	37	chr11	56237805	56237805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgaggaaaaagtacaTggggttgttaagctgaggac	15	4	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56237805T>C	uc010rjk.1	-	1	169	c.169A>G	c.(169-171)ATG>GTG	p.M57V		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AAAAAGTACATGGGGTTGTTA	0.393													C	56237805	T	C	56237805	3	2	274	1	0	0	0	0	1	0	0	0	11175	1464	51	3	756	3	OR5M3	11	56237805	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	135	56237805	78768711	973	140279											
OR5AP2	338675	broad.mit.edu	37	chr11	56409116	56409116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtagctagatgtagggCgcaagtacatgaagaggatt	14	4	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:56409116C>T	uc001njb.1	-	1	800	c.800G>A	c.(799-801)CGC>CAC	p.R267H		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						AGATGTAGGGCGCAAGTACAT	0.433													T	56409116	C	T	56409116	3	4	274	1	0	0	0	0	1	0	0	0	11144	768	27	1	154	1	OR5AP2	11	56409116	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	171311	56409116	78597400	974	140280											
OR9Q1	219956	broad.mit.edu	37	chr11	57947126	57947126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacctcgctttcatggaCgtctgctactcatctatcac	6	14	6	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:57947126C>T	uc001nmj.2	+	3	526	c.210C>T	c.(208-210)GAC>GAT	p.D70D		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				CTTTCATGGACGTCTGCTACT	0.498													T	57947126	C	T	57947126	2	4	274	1	0	0	0	0	0	0	0	1	11255	535	19	1		1	OR9Q1	11	57947126	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1538010	57947126	77059390	975	140281											
FAM111A	63901	broad.mit.edu	37	chr11	58920651	58920652	+	Frame_Shift_Ins	INS	-	-	A													tcaggaacgtgttcagtctaINSaaaaagcagaaagtccagag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:58920650_58920651T>TA	uc010rkp.2	+	4	1736_1737	c.1509_1510T>TA	c.(1507-1512)tctaaafs	p.S503fs	FAM111A_uc010rkq.2_Frame_Shift_Ins_p.S503fs|FAM111A_uc010rkr.2_Frame_Shift_Ins_p.S503fs|FAM111A_uc001nno.3_Frame_Shift_Ins_p.S503fs|FAM111A_uc001nnp.3_Frame_Shift_Ins_p.S503fs|FAM111A_uc001nnq.3_Frame_Shift_Ins_p.S503fs	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	503					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)				GTGTTCAGTCTAAAAAAGCAGA	0.386													A	58920652	-	A	58920651	7	5	274	1	0	1	1	0	0	0	0	0	5399	363	13	0	1516	0	FAM111A	11	58920651	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	973525	58920651	76085865	976	140282											
MS4A15	219995	broad.mit.edu	37	chr11	60543165	60543165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcctatgacaatgtgGcatatgcccaaggagtcgtc	10	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:60543165G>A	uc009ynf.1	+	7	920	c.700G>A	c.(700-702)GCA>ACA	p.A234T	MS4A15_uc001npx.2_Missense_Mutation_p.A141T|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.A193T	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	234						integral to membrane	receptor activity			lung(1)	1						TGACAATGTGGCATATGCCCA	0.602											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	60543165	G	A	60543165	3	1	274	1	0	0	0	0	1	0	0	0	9859	1203	42	2	722	2	MS4A15	11	60543165	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1622514	60543165	74463351	977	140283											
TMEM109	79073	broad.mit.edu	37	chr11	60688430	60688430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctctgtctgggatcgccGcacagctgctgaatgccttg	12	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:60688430G>A	uc001nqg.2	+	3	688	c.310G>A	c.(310-312)GCA>ACA	p.A104T	TMEM109_uc001nqh.2_Missense_Mutation_p.A104T	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	104	Helical; (Potential).					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						TGGGATCGCCGCACAGCTGCT	0.537													A	60688430	G	A	60688430	3	1	274	1	0	0	0	0	1	0	0	0	16022	1087	38	1	316	1	TMEM109	11	60688430	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	145265	60688430	74318086	978	140284											
VWCE	220001	broad.mit.edu	37	chr11	61048268	61048268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccctagtacccacctcGcaccagcactgggaacaccc	8	19	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:61048268G>A	uc001nra.2	-	8	1506	c.1227C>T	c.(1225-1227)TGC>TGT	p.C409C	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	409	VWFC 1.					extracellular region	calcium ion binding			ovary(1)	1						TACCCACCTCGCACCAGCACT	0.627													A	61048268	G	A	61048268	2	1	274	1	0	0	0	0	0	0	0	1	17242	1079	38	1		1	VWCE	11	61048268	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	359838	61048268	73958248	979	140285											
DAGLA	747	broad.mit.edu	37	chr11	61491028	61491028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggcagcgtaacctgCggacctacaacctgcggtca	13	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:61491028C>T	uc001nsa.2	+	5	643	c.532C>T	c.(532-534)CGG>TGG	p.R178W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	178	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GCGTAACCTGCGGACCTACAA	0.607													T	61491028	C	T	61491028	3	4	274	1	0	0	0	0	1	0	0	0	4226	759	27	1	546	1	DAGLA	11	61491028	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	442760	61491028	73515488	980	140286											
FTH1	2495	broad.mit.edu	37	chr11	61732559	61732559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccattgcattcagcccgCtctcccagtcatcacagtct	5	17	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:61732559C>A	uc001nsu.2	-	3	522	c.287G>T	c.(286-288)AGC>ATC	p.S96I		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	96	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	ATTCAGCCCGCTCTCCCAGTC	0.448													A	61732559	C	A	61732559	3	1	274	1	0	0	0	0	1	0	0	0	6082	797	28	5	272	5	FTH1	11	61732559	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	241531	61732559	73273957	981	140287											
AHNAK	79026	broad.mit.edu	37	chr11	62287566	62287566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcatcttcaggtgccagtCtgggccatgaacatccacat	11	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:62287566C>T	uc001ntl.2	-	5	14623	c.14323G>A	c.(14323-14325)GAC>AAC	p.D4775N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4775					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AGGTGCCAGTCTGGGCCATGA	0.537													T	62287566	C	T	62287566	3	4	274	1	0	0	0	0	1	0	0	0	414	913	32	4	3469	4	AHNAK	11	62287566	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	555007	62287566	72718950	982	140288											
EML3	256364	broad.mit.edu	37	chr11	62378607	62378607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaggatccccggggggCcaggggagccagcaccactg	17	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:62378607C>T	uc001ntu.1	-	3	712	c.404G>A	c.(403-405)GGC>GAC	p.G135D	EML3_uc001ntr.1_Missense_Mutation_p.G107D|EML3_uc001nts.1_Missense_Mutation_p.G107D|EML3_uc001ntt.1_Missense_Mutation_p.A32T|EML3_uc010rly.1_Missense_Mutation_p.G135D|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	135						cytoplasm|microtubule	protein binding			ovary(1)	1						CCCCGGGGGGCCAGGGGAGCC	0.682													T	62378607	C	T	62378607	3	4	274	1	0	0	0	0	1	0	0	0	5098	739	26	2	2366	2	EML3	11	62378607	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	91041	62378607	72627909	983	140289											
SLC22A10	387775	broad.mit.edu	37	chr11	63064880	63064880	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttactgtgtactacgcttCttggcaggtttttcttccat	8	9	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:63064880C>A	uc009yor.2	+	3	820	c.612C>A	c.(610-612)TTC>TTA	p.F204L	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	204	Helical; (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						TACTACGCTTCTTGGCAGGTT	0.413													A	63064880	C	A	63064880	3	1	274	1	0	0	0	0	1	0	0	0	14441	912	32	5	622	5	SLC22A10	11	63064880	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	686273	63064880	71941636	984	140290											
FLRT1	23769	broad.mit.edu	37	chr11	63883698	63883698	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccttgcaggtattcaGgctccaggccaggtggggcc	15	12	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:63883698G>T	uc001nyi.1	+	2	300	c.-41G>T	c.(-43--39)CAGGC>CATGC		MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein						cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						CAGGTATTCAGGCTCCAGGCC	0.507													T	63883698	G	T	63883698	1	4	274	1	0	0	0	0	0	0	0	0	5938	1015	35	5		5	FLRT1	11	63883698	Translation_Start_Site	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	818818	63883698	71122818	985	140291											
SLC22A11	55867	broad.mit.edu	37	chr11	64329769	64329769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgaccagcaggagggCggtcaccatgacggtggtgg	17	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:64329769C>T	uc001oai.2	+	4	1057	c.683C>T	c.(682-684)GCG>GTG	p.A228V	SLC22A11_uc001oah.1_Silent_p.G193G|SLC22A11_uc001oaj.2_Missense_Mutation_p.A228V|SLC22A11_uc009ypq.2_Missense_Mutation_p.A228V|SLC22A11_uc001oak.1_Missense_Mutation_p.A57V	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	228	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	AGCAGGAGGGCGGTCACCATG	0.682													T	64329769	C	T	64329769	3	4	274	1	0	0	0	0	1	0	0	0	14442	768	27	1	697	1	SLC22A11	11	64329769	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	446071	64329769	70676747	986	140292											
NRXN2	9379	broad.mit.edu	37	chr11	64453195	64453195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgacgggttccacaagggCctcgaaggcacctgagccta	12	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:64453195C>T	uc001oar.2	-	7	1514	c.1075G>A	c.(1075-1077)GCC>ACC	p.A359T	NRXN2_uc001oas.2_Missense_Mutation_p.A335T|NRXN2_uc001oaq.2_Missense_Mutation_p.A33T	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TCCACAAGGGCCTCGAAGGCA	0.602													T	64453195	C	T	64453195	3	4	274	1	0	0	0	0	1	0	0	0	10666	739	26	2	4404	2	NRXN2	11	64453195	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	123426	64453195	70553321	987	140293											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597443	64597443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgccagggcaaagagaCgcacgctggggccgcggcca	16	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:64597443C>T	uc001obs.3	-	30	3467	c.3467G>A	c.(3466-3468)CGT>CAT	p.R1156H		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1156	CNH.				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			lung(3)|central_nervous_system(1)	4						GGCAAAGAGACGCACGCTGGG	0.662													T	64597443	C	T	64597443	3	4	274	1	0	0	0	0	1	0	0	0	3074	536	19	1	1220	1	CDC42BPG	11	64597443	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	144248	64597443	70409073	988	140294											
PCNXL3	399909	broad.mit.edu	37	chr11	65391432	65391432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcggcgtcccccatgcaCgtgagtacccatggagcagc	13	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:65391432C>T	uc001oey.2	+	13	2544	c.2544C>T	c.(2542-2544)CAC>CAT	p.H848H	PCNXL3_uc009yqn.2_5'Flank|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	848						integral to membrane					0						CCCCCATGCACGTGAGTACCC	0.582													T	65391432	C	T	65391432	2	4	274	1	0	0	0	0	0	0	0	1	11593	550	19	1		1	PCNXL3	11	65391432	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	793989	65391432	69615084	989	140295											
FIBP	9158	broad.mit.edu	37	chr11	65653077	65653077	+	Frame_Shift_Del	DEL	T	T	-													ccgaagctcagatactgcagTtttttcttccctgtctcaaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:65653076_65653076GT>G	uc001ogd.3	-	4	692	c.571_571AC>C	c.(571-573)ctgfs	p.L191fs	FIBP_uc001oge.3_Frame_Shift_Del_p.L191fs	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	191					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		AGATACTGCAGTTTTTTCTTC	0.542											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	65653077	T	-	65653077	7	5	274	1	0	1	0	1	0	0	0	0	5886	1722	60	0	548	0	FIBP	11	65653077	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	261645	65653077	69353439	990	140296											
NPAS4	266743	broad.mit.edu	37	chr11	66190222	66190222	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaacaaactcgtgcttattCgaggccgattccatgctcac	8	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:66190222C>T	uc001ohx.1	+	4	684	c.508C>T	c.(508-510)CGA>TGA	p.R170*	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	170					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CGTGCTTATTCGAGGCCGATT	0.577													T	66190222	C	T	66190222	4	4	274	1	0	0	0	0	0	1	0	0	10565	876	31	1	522	1	NPAS4	11	66190222	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	537145	66190222	68816294	991	140297											
RBM14	10432	broad.mit.edu	37	chr11	66393136	66393136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctacaaaaaggctgtcGccatgtcgaaaaggtactgt	9	10	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:66393136G>A	uc001oit.2	+	2	1928	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	597					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			ovary(2)|central_nervous_system(1)	3						AAAGGCTGTCGCCATGTCGAA	0.662													A	66393136	G	A	66393136	3	1	274	1	0	0	0	0	1	0	0	0	13115	1087	38	1	1795	1	RBM14	11	66393136	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	202914	66393136	68613380	992	140298											
SYT12	91683	broad.mit.edu	37	chr11	66802126	66802126	+	Frame_Shift_Del	DEL	C	C	-													tgccttgcagtcatcaagagCccccctggctgggaggtggg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:66802125_66802125GC>G	uc009yrl.3	+	2	274	c.44_44GC>G	c.(43-45)agcfs	p.S15fs	SYT12_uc001oju.3_Frame_Shift_Del_p.S15fs	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	15						cell junction|integral to membrane|synaptic vesicle membrane		p.K14N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GTCATCAAGAGCCCCCCTGGC	0.612													-	66802126	C	-	66802126	7	5	274	1	0	1	0	1	0	0	0	0	15465	738	26	0	51	0	SYT12	11	66802126	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	408990	66802126	68204390	993	140299											
PITPNM1	9600	broad.mit.edu	37	chr11	67266215	67266215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgcctgcttggagttggCgtctccagggcctgagtcca	13	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67266215C>T	uc001olx.2	-	9	1525	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.A446T|PITPNM1_uc001olz.2_Missense_Mutation_p.A446T	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	446					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			lung(2)|central_nervous_system(1)	3						TTGGAGTTGGCGTCTCCAGGG	0.667													T	67266215	C	T	67266215	3	4	274	1	0	0	0	0	1	0	0	0	11950	768	27	1	2458	1	PITPNM1	11	67266215	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	464089	67266215	67740301	994	140300											
PITPNM1	9600	broad.mit.edu	37	chr11	67266285	67266285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcgtggactgcgcatgcCtcagcccccagctccccggc	13	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67266285C>A	uc001olx.2	-	9	1455	c.1266G>T	c.(1264-1266)GAG>GAT	p.E422D	PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.E422D|PITPNM1_uc001olz.2_Missense_Mutation_p.E422D	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	422					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			lung(2)|central_nervous_system(1)	3						CTGCGCATGCCTCAGCCCCCA	0.657													A	67266285	C	A	67266285	3	1	274	1	0	0	0	0	1	0	0	0	11950	680	24	5	2528	5	PITPNM1	11	67266285	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	70	67266285	67740231	995	140301											
PITPNM1	9600	broad.mit.edu	37	chr11	67267649	67267649	+	Frame_Shift_Del	DEL	G	G	-													cgggggaggcatctgggcctGggggggcctcaggcccatcg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67267648_67267648TG>T	uc001olx.3	-	4	1074	c.885_885CA>A	c.(883-885)ccafs	p.P295fs	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Del_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Del_p.P295fs	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	295					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum 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						CATCTGGGCCTGGGGGGGCCT	0.692													-	67267649	G	-	67267649	7	5	274	1	0	1	0	1	0	0	0	0	11950	1348	47	0	2926	0	PITPNM1	11	67267649	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	1364	67267649	67738867	996	140302											
ALDH3B2	222	broad.mit.edu	37	chr11	67434057	67434057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcacctgcggcgagggCgcccaccaggagcaccaggg	14	17	1	0	rs1140670		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:67434057C>T	uc001omr.2	-	4	578	c.139G>A	c.(139-141)GCC>ACC	p.A47T	ALDH3B2_uc001oms.2_Missense_Mutation_p.A47T|ALDH3B2_uc009ysa.1_Missense_Mutation_p.A47T	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	47				ALA -> TLP (in Ref. 1; AAA85441 and 2; no nucleotide entry).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	GCGGCGAGGGCGCCCACCAGG	0.637													T	67434057	C	T	67434057	3	4	274	1	0	0	0	0	1	0	0	0	500	768	27	1	1046	1	ALDH3B2	11	67434057	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	166408	67434057	67572459	997	140303											
LRP5	4041	broad.mit.edu	37	chr11	68125290	68125290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagctcagcttcatccacCgtgccaacctggacggctcg	9	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68125290C>T	uc001ont.2	+	3	736	c.661C>T	c.(661-663)CGT>TGT	p.R221C	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	221	Beta-propeller 1.|LDL-receptor class B 4.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CTTCATCCACCGTGCCAACCT	0.577													T	68125290	C	T	68125290	3	4	274	1	0	0	0	0	1	0	0	0	8960	652	23	1	671	1	LRP5	11	68125290	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	691233	68125290	66881226	998	140304											
SAPS3	55291	broad.mit.edu	37	chr11	68369411	68369411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccctctgactcccagtgCggctgccctggcagtgcagc	13	16	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68369411C>T	uc001onw.2	+	21	2540	c.2273C>T	c.(2272-2274)GCG>GTG	p.A758V	SAPS3_uc001onv.2_Missense_Mutation_p.A758V|SAPS3_uc001ony.3_Missense_Mutation_p.A729V|SAPS3_uc001onx.2_Missense_Mutation_p.A752V|SAPS3_uc009ysh.2_Missense_Mutation_p.A678V|SAPS3_uc001onu.2_Missense_Mutation_p.A678V|SAPS3_uc010rqc.1_Missense_Mutation_p.A526V|SAPS3_uc010rqd.1_Missense_Mutation_p.A441V|SAPS3_uc001onz.2_Missense_Mutation_p.A86V|SAPS3_uc001ooa.2_Missense_Mutation_p.A208V	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	758					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			ACTCCCAGTGCGGCTGCCCTG	0.517													T	68369411	C	T	68369411	3	4	274	1	0	0	0	0	1	0	0	0	13838	768	27	1	2347	1	SAPS3	11	68369411	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	244121	68369411	66637105	999	140305											
MTL5	9633	broad.mit.edu	37	chr11	68475967	68475967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgcatgaggaaggccGcctgtcagaaacagagcagt	15	8	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68475967G>A	uc001ooc.2	-	10	1476	c.1336C>T	c.(1336-1338)CGG>TGG	p.R446W		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	446					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GAGGAAGGCCGCCTGTCAGAA	0.507													A	68475967	G	A	68475967	3	1	274	1	0	0	0	0	1	0	0	0	9936	1101	38	1	194	1	MTL5	11	68475967	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	106556	68475967	66530549	1000	140306											
IGHMBP2	3508	broad.mit.edu	37	chr11	68673617	68673617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtatccagccagcGcactgggctgtacggacggc	15	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68673617G>A	uc001ook.1	+	2	269	c.167G>A	c.(166-168)CGC>CAC	p.R56H	IGHMBP2_uc001ooj.1_RNA|MRPL21_uc001ooh.2_5'Flank|MRPL21_uc001ooi.2_5'Flank|MRPL21_uc010rqe.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	56					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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCAGCCAGCGCACTGGGCTG	0.587													A	68673617	G	A	68673617	3	1	274	1	0	0	0	0	1	0	0	0	7591	1087	38	1	173	1	IGHMBP2	11	68673617	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	197650	68673617	66332899	1001	140307											
MRGPRD	116512	broad.mit.edu	37	chr11	68747523	68747523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattggtgcccacggtgggCgtctccccaccttccagctc	10	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:68747523C>T	uc010rqf.1	-	1	933	c.933G>A	c.(931-933)ACG>ACA	p.T311T		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCACGGTGGGCGTCTCCCCAC	0.687													T	68747523	C	T	68747523	2	4	274	1	0	0	0	0	0	0	0	1	9763	755	27	1		1	MRGPRD	11	68747523	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	73906	68747523	66258993	1002	140308											
NUMA1	4926	broad.mit.edu	37	chr11	71724998	71724998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgttgggccgaggctaagGcactctgactgtgccctagc	13	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:71724998G>A	uc001orl.1	-	15	3723	c.3551C>T	c.(3550-3552)GCC>GTC	p.A1184V	NUMA1_uc009ysw.1_Missense_Mutation_p.A747V|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A1184V|NUMA1_uc001orn.2_Missense_Mutation_p.A747V|NUMA1_uc009ysx.1_Missense_Mutation_p.A1184V|NUMA1_uc001oro.1_Missense_Mutation_p.A1184V	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1184	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CGAGGCTAAGGCACTCTGACT	0.657			T	RARA	APL								A	71724998	G	A	71724998	3	1	274	1	0	0	0	0	1	0	0	0	10750	1203	42	2	2848	2	NUMA1	11	71724998	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2977475	71724998	63281518	1003	140309											
FOLR3	2352	broad.mit.edu	37	chr11	71847078	71847078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcccagcccaggagtgCgcgggccaggacggacctgc	17	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:71847078C>T	uc001ory.1	+	2	130	c.80C>T	c.(79-81)GCG>GTG	p.A27V	FOLR3_uc001orx.1_Missense_Mutation_p.A27V			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	25					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	CCCAGGAGTGCGCGGGCCAGG	0.632													T	71847078	C	T	71847078	3	4	274	1	0	0	0	0	1	0	0	0	5983	768	27	1	82	1	FOLR3	11	71847078	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	122080	71847078	63159438	1004	140310											
INPPL1	3636	broad.mit.edu	37	chr11	71942042	71942042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcacctccaggaagtGtaccacctccaaaaaacgtg	6	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:71942042G>A	uc001osf.2	+	12	1453	c.1306G>A	c.(1306-1308)GTA>ATA	p.V436I	INPPL1_uc001osg.2_Missense_Mutation_p.V194I	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	436					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TCCAGGAAGTGTACCACCTCC	0.607													A	71942042	G	A	71942042	3	1	274	1	0	0	0	0	1	0	0	0	7761	1377	48	4	1352	4	INPPL1	11	71942042	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	94964	71942042	63064474	1005	140311											
RELT	84957	broad.mit.edu	37	chr11	73105738	73105738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcccaaggccggggccaaGgcagggcgtcagggcgagat	18	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:73105738G>T	uc001otv.2	+	9	1170	c.1005G>T	c.(1003-1005)AAG>AAT	p.K335N	RELT_uc001otw.2_Missense_Mutation_p.K335N|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	335	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						CCGGGGCCAAGGCAGGGCGTC	0.652													T	73105738	G	T	73105738	3	4	274	1	0	0	0	0	1	0	0	0	13221	991	35	5	1035	5	RELT	11	73105738	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1163696	73105738	61900778	1006	140312											
PLEKHB1	58473	broad.mit.edu	37	chr11	73372524	73372524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaggccctggcgtgacGcacgtgatagtgcgggagga	17	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:73372524G>A	uc001oua.2	+	8	1040	c.609G>A	c.(607-609)ACG>ACA	p.T203T	PLEKHB1_uc001oub.2_Silent_p.T168T|PLEKHB1_uc001ouc.2_Silent_p.T184T|PLEKHB1_uc001oud.2_Silent_p.T149T|PLEKHB1_uc009ytq.2_Silent_p.T149T	NM_021200	NP_067023	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B	203					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			ovary(1)|lung(1)	2						CTGGCGTGACGCACGTGATAG	0.657											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	73372524	G	A	73372524	2	1	274	1	0	0	0	0	0	0	0	1	12064	1074	38	1		1	PLEKHB1	11	73372524	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	266786	73372524	61633992	1007	140313											
XRRA1	143570	broad.mit.edu	37	chr11	74617353	74617353	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctgagtcctcaagcaTccttggcttggactgcagca	9	13	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:74617353T>A	uc009yub.2	-	10	1242	c.910A>T	c.(910-912)ATG>TTG	p.M304L	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_5'UTR|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.M304L|XRRA1_uc001ovp.3_Missense_Mutation_p.M71L|XRRA1_uc001ovr.2_5'UTR|XRRA1_uc001ovt.2_Missense_Mutation_p.M71L	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	304					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						TCCTCAAGCATCCTTGGCTTG	0.498													A	74617353	T	A	74617353	3	1	274	1	0	0	0	0	1	0	0	0	17458	1435	50	5	1508	5	XRRA1	11	74617353	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1244829	74617353	60389163	1008	140314											
C11orf30	56946	broad.mit.edu	37	chr11	76261110	76261110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggatgatgaggagacaGcaatggagcaggacatagac	15	6	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:76261110G>A	uc001oxl.2	+	21	4032	c.3889G>A	c.(3889-3891)GCA>ACA	p.A1297T	C11orf30_uc001oxm.2_Missense_Mutation_p.A1199T|C11orf30_uc010rsb.1_Missense_Mutation_p.A1312T|C11orf30_uc010rsc.1_Missense_Mutation_p.A1298T|C11orf30_uc001oxn.2_Missense_Mutation_p.A1298T|C11orf30_uc010rsd.1_Missense_Mutation_p.A1206T|C11orf30_uc010rse.1_Missense_Mutation_p.A544T|C11orf30_uc001oxp.2_Missense_Mutation_p.A230T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1297					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						TGAGGAGACAGCAATGGAGCA	0.512													A	76261110	G	A	76261110	3	1	274	1	0	0	0	0	1	0	0	0	1636	971	34	2	3967	2	C11orf30	11	76261110	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1643757	76261110	58745406	1009	140315											
MYO7A	4647	broad.mit.edu	37	chr11	76873961	76873962	+	Frame_Shift_Ins	INS	-	-	C													agctcaacgccaactacatcINSccccccaagaacaaccatga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:76873960_76873961T>TC	uc001oyb.2	+	13	1888_1889	c.1616_1617T>TC	c.(1615-1617)atcfs	p.I539fs	MYO7A_uc010rsl.2_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	539	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	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													C	76873962	-	C	76873961	7	5	274	1	0	1	1	0	0	0	0	0	10082	845	30	0	1667	0	MYO7A	11	76873961	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	612851	76873961	58132555	1010	140316											
SYTL2	54843	broad.mit.edu	37	chr11	85407243	85407243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgttccaaagccaataCgaagacctcccaaaaattgg	6	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:85407243C>T	uc010rth.1	-	17	2918	c.2642G>A	c.(2641-2643)CGT>CAT	p.R881H	SYTL2_uc010rtg.1_Missense_Mutation_p.R882H|SYTL2_uc010rti.1_Missense_Mutation_p.R857H|SYTL2_uc010rtj.1_Missense_Mutation_p.R849H|SYTL2_uc001pav.2_Missense_Mutation_p.R323H|SYTL2_uc010rte.1_Missense_Mutation_p.R283H|SYTL2_uc001pax.2_Missense_Mutation_p.R323H|SYTL2_uc001paz.2_Missense_Mutation_p.R202H|SYTL2_uc001pba.2_Missense_Mutation_p.R266H|SYTL2_uc001pay.2_Missense_Mutation_p.R312H|SYTL2_uc001paw.2_Missense_Mutation_p.R283H|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.R1179H|SYTL2_uc001pbb.2_Missense_Mutation_p.R1219H|SYTL2_uc001pbc.2_Missense_Mutation_p.R1203H|SYTL2_uc010rtf.1_Missense_Mutation_p.R699H	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	881					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			ovary(2)|large_intestine(1)	3		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)		AAAGCCAATACGAAGACCTCC	0.408													T	85407243	C	T	85407243	3	4	274	1	0	0	0	0	1	0	0	0	15480	536	19	1	170	1	SYTL2	11	85407243	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8533282	85407243	49599273	1011	140317											
CCDC83	220047	broad.mit.edu	37	chr11	85626507	85626507	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactagaagtgccacctgaAgaaatgtctttggaattgcc	11	8	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:85626507A>C	uc001pbh.1	+	9	1352	c.840A>C	c.(838-840)GAA>GAC	p.E280D	CCDC83_uc001pbg.1_Missense_Mutation_p.E311D|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.E181D	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	280										skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGCCACCTGAAGAAATGTCTT	0.284													C	85626507	A	C	85626507	3	2	274	1	0	0	0	0	1	0	0	0	2857	69	3	5	967	5	CCDC83	11	85626507	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	219264	85626507	49380009	1012	140318											
FAT3	120114	broad.mit.edu	37	chr11	92258014	92258014	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggacgtatctgtcattcaGatccaggctgaagatcctga	10	9	3	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:92258014G>A	uc001pdj.3	+	2	3524	c.3507G>A	c.(3505-3507)CAG>CAA	p.Q1169Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1169	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGTCATTCAGATCCAGGCTG	0.398										TCGA Ovarian(4;0.039)			A	92258014	G	A	92258014	2	1	274	1	0	0	0	0	0	0	0	1	5691	933	33	4		4	FAT3	11	92258014	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6631507	92258014	42748502	1013	140319											
HEPHL1	341208	broad.mit.edu	37	chr11	93800812	93800812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagcagagggcatcggaCtgatgtcgtcaacctgttcc	11	12	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:93800812C>T	uc001pep.2	+	5	1116	c.959C>T	c.(958-960)ACT>ATT	p.T320I	uc001pen.1_RNA	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	320	Plastocyanin-like 2.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGGCATCGGACTGATGTCGTC	0.478													T	93800812	C	T	93800812	3	4	274	1	0	0	0	0	1	0	0	0	7055	565	20	4	977	4	HEPHL1	11	93800812	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1542798	93800812	41205704	1014	140320											
CNTN5	53942	broad.mit.edu	37	chr11	100179126	100179126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagatgtcaaggcgacaAgtgtgtctgtgtcagagatt	12	8	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:100179126A>C	uc001pga.2	+	21	2995	c.2656A>C	c.(2656-2658)AGT>CGT	p.S886R	CNTN5_uc001pfz.2_Missense_Mutation_p.S886R|CNTN5_uc001pgb.2_Missense_Mutation_p.S812R|CNTN5_uc010ruk.1_Missense_Mutation_p.S157R	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	886	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		CAAGGCGACAAGTGTGTCTGT	0.398													C	100179126	A	C	100179126	3	2	274	1	0	0	0	0	1	0	0	0	3644	72	3	5	2730	5	CNTN5	11	100179126	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6378314	100179126	34827390	1015	140321											
PGR	5241	broad.mit.edu	37	chr11	100998925	100998925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtggccagcggggagcGcccgggcgccatcggcgcgt	20	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:100998925G>A	uc001pgh.2	-	1	1620	c.877C>T	c.(877-879)CGC>TGC	p.R293C	PGR_uc001pgi.2_Missense_Mutation_p.R293C|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	293	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			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		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)	AGCGGGGAGCGCCCGGGCGCC	0.677													A	100998925	G	A	100998925	3	1	274	1	0	0	0	0	1	0	0	0	11805	1087	38	1	1956	1	PGR	11	100998925	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	819799	100998925	34007591	1016	140322											
TRPC6	7225	broad.mit.edu	37	chr11	101374812	101374812	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattgctaagttctaaagcCgtcatgactggatcttcact	7	10	5	1	rs144891994		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:101374812C>A	uc001pgk.3	-	2	1313	c.888G>T	c.(886-888)ACG>ACT	p.T296T	TRPC6_uc009ywy.2_Silent_p.T296T|TRPC6_uc009ywz.1_Silent_p.T296T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	296	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTCTAAAGCCGTCATGACTG	0.458													A	101374812	C	A	101374812	2	1	274	1	0	0	0	0	0	0	0	1	16580	639	23	5		5	TRPC6	11	101374812	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	375887	101374812	33631704	1017	140323											
C11orf70	85016	broad.mit.edu	37	chr11	101937275	101937275	+	Frame_Shift_Del	DEL	T	T	-													gcacacagctttcaatgtcaTtttttcatcggttatatgat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:101937274_101937274AT>A	uc001pgp.3	+	3	360	c.327_327AT>A	c.(325-327)tcafs	p.S109fs	C11orf70_uc001pgo.3_Intron|C11orf70_uc001pgq.3_Frame_Shift_Del_p.S71fs	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	109										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)		TTTCAATGTCATTTTTTCATC	0.289													-	101937275	T	-	101937275	7	5	274	1	0	1	0	1	0	0	0	0	1659	1493	52	0	224	0	C11orf70	11	101937275	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	562463	101937275	33069241	1018	140324											
CASP5	838	broad.mit.edu	37	chr11	104879548	104879548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttactttttacactggtcGacttttgatccgtattaggt	7	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:104879548G>A	uc010rva.1	-	2	199	c.167C>T	c.(166-168)TCG>TTG	p.S56L	CASP5_uc010ruz.1_Missense_Mutation_p.S69L|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	56	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		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)		TACACTGGTCGACTTTTGATC	0.383													A	104879548	G	A	104879548	3	1	274	1	0	0	0	0	1	0	0	0	2674	1059	37	1	1169	1	CASP5	11	104879548	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2942273	104879548	30126968	1019	140325											
GRIA4	2893	broad.mit.edu	37	chr11	105483047	105483047	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaggaatacactgcttttCgattagcaatttttcttcat	5	8	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:105483047C>T	uc001pix.2	+	3	579	c.133C>T	c.(133-135)CGA>TGA	p.R45*	GRIA4_uc001piu.1_Nonsense_Mutation_p.R45*|GRIA4_uc001piw.2_Nonsense_Mutation_p.R45*|GRIA4_uc001piv.2_Nonsense_Mutation_p.R45*|GRIA4_uc009yxk.1_Nonsense_Mutation_p.R45*|GRIA4_uc001pit.2_Nonsense_Mutation_p.R45*	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	45	Extracellular (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	CACTGCTTTTCGATTAGCAAT	0.413													T	105483047	C	T	105483047	4	4	274	1	0	0	0	0	0	1	0	0	6770	876	31	1	139	1	GRIA4	11	105483047	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	603499	105483047	29523469	1020	140326											
GUCY1A2	2977	broad.mit.edu	37	chr11	106888515	106888515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgatgctctcgcccagCgagtccaggttgacccgcct	12	16	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:106888515C>T	uc001pjg.1	-	1	657	c.267G>A	c.(265-267)TCG>TCA	p.S89S	GUCY1A2_uc010rvo.1_Silent_p.S89S|GUCY1A2_uc009yxn.1_Silent_p.S89S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	89					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		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)		TCTCGCCCAGCGAGTCCAGGT	0.517													T	106888515	C	T	106888515	2	4	274	1	0	0	0	0	0	0	0	1	6893	755	27	1		1	GUCY1A2	11	106888515	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1405468	106888515	28118001	1021	140327											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035459	110035459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctggagttcatttcccacCtcaggatcaaagaccacagg	8	12	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:110035459C>A	uc009yxw.2	+	6	1700	c.1649C>A	c.(1648-1650)CCT>CAT	p.P550H	ZC3H12C_uc010rwc.1_Missense_Mutation_p.P551H|ZC3H12C_uc010rwd.1_Missense_Mutation_p.P551H|ZC3H12C_uc001pkr.3_Missense_Mutation_p.P519H	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	550							endonuclease activity|nucleic acid binding|zinc ion binding				0		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)		CATTTCCCACCTCAGGATCAA	0.433													A	110035459	C	A	110035459	3	1	274	1	0	0	0	0	1	0	0	0	17560	681	24	5	1671	5	ZC3H12C	11	110035459	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3146944	110035459	24971057	1022	140328											
APOA4	337	broad.mit.edu	37	chr11	116691900	116691900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtccaggtgcccacccaGctctgccagtgacttctgca	10	16	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:116691900G>T	uc001pps.1	-	3	978	c.874C>A	c.(874-876)CTG>ATG	p.L292M		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	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)		TGCCCACCCAGCTCTGCCAGT	0.657													T	116691900	G	T	116691900	3	4	274	1	0	0	0	0	1	0	0	0	783	962	34	5	320	5	APOA4	11	116691900	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6656441	116691900	18314616	1023	140329											
DSCAML1	57453	broad.mit.edu	37	chr11	117403175	117403175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgataggtggagagggCgtcctccttctgtacgtcag	15	10	2	1	rs142110596		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:117403175C>T	uc001prh.1	-	4	756	c.754G>A	c.(754-756)GCC>ACC	p.A252T	DSCAML1_uc001pri.1_Missense_Mutation_p.A56T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	192	Extracellular (Potential).|Ig-like C2-type 2.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GTGGAGAGGGCGTCCTCCTTC	0.557													T	117403175	C	T	117403175	3	4	274	1	0	0	0	0	1	0	0	0	4769	768	27	1	5707	1	DSCAML1	11	117403175	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	711275	117403175	17603341	1024	140330											
UBE4A	9354	broad.mit.edu	37	chr11	118245827	118245827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgctgctctcctgaagCtatgccagccattttgcaaa	10	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118245827C>A	uc001psw.2	+	9	1462	c.1333C>A	c.(1333-1335)CTA>ATA	p.L445I	UBE4A_uc001psv.2_Missense_Mutation_p.L452I	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	445					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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)		TCTCCTGAAGCTATGCCAGCC	0.458													A	118245827	C	A	118245827	3	1	274	1	0	0	0	0	1	0	0	0	16879	796	28	5	1384	5	UBE4A	11	118245827	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	842652	118245827	16760689	1025	140331											
CXCR5	643	broad.mit.edu	37	chr11	118764379	118764379	+	Frame_Shift_Del	DEL	G	G	-													catctctgccctgccacagaGgggcccctcatggcctcctt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118764378_118764378AG>A	uc001pue.4	+	1	301	c.125_125AG>A	c.(124-126)gagfs	p.E42fs	CXCR5_uc001puf.3_5'UTR	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	42					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	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)		CCTGCCACAGAGGGGCCCCTC	0.597													-	118764379	G	-	118764379	7	5	274	1	0	1	0	1	0	0	0	0	4094	991	35	0	132	0	CXCR5	11	118764379	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	518552	118764379	16242137	1026	140332											
BCL9L	283149	broad.mit.edu	37	chr11	118772051	118772051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagtccccagggccccGcatcttctgcgacatcagca	8	17	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118772051G>A	uc001pug.2	-	6	3366	c.2401C>T	c.(2401-2403)CGG>TGG	p.R801W	BCL9L_uc009zal.2_Missense_Mutation_p.R796W	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	801	Met-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			ovary(1)|pancreas(1)	2	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)		CCAGGGCCCCGCATCTTCTGC	0.517													A	118772051	G	A	118772051	3	1	274	1	0	0	0	0	1	0	0	0	1382	1086	38	1	2110	1	BCL9L	11	118772051	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	7672	118772051	16234465	1027	140333											
BCL9L	283149	broad.mit.edu	37	chr11	118772974	118772974	+	Frame_Shift_Del	DEL	G	G	-													gctgccccatgtccccacccGgggggtgcccaggcacttca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:118772973_118772973CG>C	uc001pug.3	-	5	2444	c.1479_1479CG>G	c.(1477-1479)ccgfs	p.P493fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.P488fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	493	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)		TGTCCCCACCCGGGGGGTGCC	0.622													-	118772974	G	-	118772974	7	5	274	1	0	1	0	1	0	0	0	0	1382	1116	39	0	3033	0	BCL9L	11	118772974	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	923	118772974	16233542	1028	140334											
MFRP	83552	broad.mit.edu	37	chr11	119216564	119216564	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggtggtgatggtgggggTggtggtggtcgtggtaaggc	24	2	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:119216564T>G	uc001pwj.2	-	4	506	c.346A>C	c.(346-348)ACC>CCC	p.T116P	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.T116P	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	37	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		atggtgggggtggtggtggtc	0.552													G	119216564	T	G	119216564	3	3	274	1	0	0	0	0	1	0	0	0	9526	1696	59	5	1433	5	MFRP	11	119216564	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	443590	119216564	15789952	1029	140335											
GRIK4	2900	broad.mit.edu	37	chr11	120744855	120744855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccggagccaagagatcggCgtgaagcccttgtcctgcgg	14	12	0	2	rs111523175		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120744855C>T	uc001pxn.2	+	10	1274	c.987C>T	c.(985-987)GGC>GGT	p.G329G	GRIK4_uc009zav.1_Silent_p.G329G|GRIK4_uc009zaw.1_Silent_p.G329G|GRIK4_uc009zax.1_Silent_p.G329G	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	329	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	AAGAGATCGGCGTGAAGCCCT	0.577													T	120744855	C	T	120744855	2	4	274	1	0	0	0	0	0	0	0	1	6776	755	27	1		1	GRIK4	11	120744855	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1528291	120744855	14261661	1030	140336											
TECTA	7007	broad.mit.edu	37	chr11	120980049	120980049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcacaatggaattcgaggcGagatctattacagagagacc	11	8	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120980049G>A	uc010rzo.1	+	3	328	c.328G>A	c.(328-330)GAG>AAG	p.E110K		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	110	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		AATTCGAGGCGAGATCTATTA	0.512													A	120980049	G	A	120980049	3	1	274	1	0	0	0	0	1	0	0	0	15744	1059	37	1	338	1	TECTA	11	120980049	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	235194	120980049	14026467	1031	140337											
TECTA	7007	broad.mit.edu	37	chr11	120996158	120996158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcctccatttccgtcccaGgctcctatataaactccacc	4	18	0	0	rs150823097		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120996158G>T	uc010rzo.1	+	7	1351	c.1351G>T	c.(1351-1353)GGC>TGC	p.G451C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	451	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		TTCCGTCCCAGGCTCCTATAT	0.502													T	120996158	G	T	120996158	3	4	274	1	0	0	0	0	1	0	0	0	15744	1000	35	5	1377	5	TECTA	11	120996158	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	16109	120996158	14010358	1032	140338											
TECTA	7007	broad.mit.edu	37	chr11	120996203	120996203	+	Frame_Shift_Del	DEL	A	A	-													gactctgtggaaactataatAaaaacccactggatgacttc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:120996202_120996202TA>T	uc010rzo.2	+	6	1395	c.1395_1395TA>T	c.(1393-1395)aatfs	p.N465fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	465	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)		GAAACTATAATAAAAACCCAC	0.532													-	120996203	A	-	120996203	7	5	274	1	0	1	0	1	0	0	0	0	15744	363	13	0	1422	0	TECTA	11	120996203	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	45	120996203	14010313	1033	140339											
TECTA	7007	broad.mit.edu	37	chr11	121000442	121000442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacagtggagtccaagggCgtggtgactgtccagtactc	14	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121000442C>T	uc010rzo.1	+	9	2463	c.2463C>T	c.(2461-2463)GGC>GGT	p.G821G		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	821	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		AGTCCAAGGGCGTGGTGACTG	0.478													T	121000442	C	T	121000442	2	4	274	1	0	0	0	0	0	0	0	1	15744	755	27	1		1	TECTA	11	121000442	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4239	121000442	14006074	1034	140340											
TECTA	7007	broad.mit.edu	37	chr11	121000757	121000757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagctccttcctggagtgCcatggggtggtgaacgtcac	13	11	1	1	rs149008453		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121000757C>T	uc010rzo.1	+	9	2778	c.2778C>T	c.(2776-2778)TGC>TGT	p.C926C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	926	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		TCCTGGAGTGCCATGGGGTGG	0.582													T	121000757	C	T	121000757	2	4	274	1	0	0	0	0	0	0	0	1	15744	747	26	2		2	TECTA	11	121000757	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	315	121000757	14005759	1035	140341											
TECTA	7007	broad.mit.edu	37	chr11	121016728	121016728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcttgcatcgatgggggCgcggtgcagaccgcctgcag	16	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121016728C>T	uc010rzo.1	+	11	4008	c.4008C>T	c.(4006-4008)GGC>GGT	p.G1336G		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1336					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		TCGATGGGGGCGCGGTGCAGA	0.562													T	121016728	C	T	121016728	2	4	274	1	0	0	0	0	0	0	0	1	15744	755	27	1		1	TECTA	11	121016728	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	15971	121016728	13989788	1036	140342											
SORL1	6653	broad.mit.edu	37	chr11	121358756	121358756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtacatctttgcagacGcttatgcccagtacctctgg	9	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:121358756G>A	uc001pxx.2	+	4	624	c.544G>A	c.(544-546)GCT>ACT	p.A182T		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	182	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		CTTTGCAGACGCTTATGCCCA	0.522													A	121358756	G	A	121358756	3	1	274	1	0	0	0	0	1	0	0	0	14934	1087	38	1	558	1	SORL1	11	121358756	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	342028	121358756	13647760	1037	140343											
C11orf63	79864	broad.mit.edu	37	chr11	122756890	122756890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatacctgggaccagggCgccaataacaggtaaggaat	11	11	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:122756890C>T	uc001pym.2	+	2	630	c.333C>T	c.(331-333)GGC>GGT	p.G111G	C11orf63_uc001pyl.1_Silent_p.G111G	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	111										ovary(3)	3		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)		GGGACCAGGGCGCCAATAACA	0.463													T	122756890	C	T	122756890	2	4	274	1	0	0	0	0	0	0	0	1	1654	755	27	1		1	C11orf63	11	122756890	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1398134	122756890	12249626	1038	140344											
ROBO3	64221	broad.mit.edu	37	chr11	124747437	124747437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccatgggccttggccccGccccctactcatggctggca	10	19	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:124747437G>A	uc001qbc.2	+	20	3061	c.2869G>A	c.(2869-2871)GCC>ACC	p.A957T	ROBO3_uc010saq.1_Missense_Mutation_p.A6T|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Missense_Mutation_p.A6T|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	957	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	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)		CCTTGGCCCCGCCCCCTACTC	0.657													A	124747437	G	A	124747437	3	1	274	1	0	0	0	0	1	0	0	0	13515	1087	38	1	2947	1	ROBO3	11	124747437	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1990547	124747437	10259079	1039	140345											
IGSF9B	22997	broad.mit.edu	37	chr11	133792519	133792519	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaaagcaggcagccagGgtgctgaacaggatggcagc	15	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr11:133792519G>T	uc001qgx.3	-	16	2457	c.2226C>A	c.(2224-2226)ACC>ACA	p.T742T	IGSF9B_uc001qgy.1_Silent_p.T584T	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	742	Helical; (Potential).					integral to membrane|plasma membrane					0	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)		AGGCAGCCAGGGTGCTGAACA	0.612													T	133792519	G	T	133792519	2	4	274	1	0	0	0	0	0	0	0	1	7606	1219	43	5		5	IGSF9B	11	133792519	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	9045082	133792519	1213997	1040	140346											
IQSEC3	440073	broad.mit.edu	37	chr12	248367	248367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagtcaggctcggaggCgtcggcctccgcctccaagg	14	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:248367C>T	uc001qhw.1	+	1	935	c.929C>T	c.(928-930)GCG>GTG	p.A310V	IQSEC3_uc001qhu.1_Missense_Mutation_p.A310V|IQSEC3_uc001qht.1_Missense_Mutation_p.A395V|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	613					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	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)		GGCTCGGAGGCGTCGGCCTCC	0.657													T	248367	C	T	248367	3	4	274	1	0	0	0	0	1	0	0	0	7819	768	27	1	1852	1	IQSEC3	12	248367	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		248367	133603528	1041	140347											
SLC6A13	6540	broad.mit.edu	37	chr12	336795	336795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcacccaagacagatggCgaaggagaagaatatctggg	14	8	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:336795C>T	uc001qic.1	-	8	924	c.871G>A	c.(871-873)GCC>ACC	p.A291T	SLC6A13_uc009zdj.1_Missense_Mutation_p.A291T|SLC6A13_uc010sdl.1_Missense_Mutation_p.A199T|SLC6A13_uc010sdm.1_Missense_Mutation_p.A172T	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	291	Helical; Name=6; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	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)			AGACAGATGGCGAAGGAGAAG	0.567													T	336795	C	T	336795	3	4	274	1	0	0	0	0	1	0	0	0	14676	768	27	1	969	1	SLC6A13	12	336795	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	88428	336795	133515100	1042	140348											
KDM5A	5927	broad.mit.edu	37	chr12	427487	427487	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctgttgtagctcttgcttCagtcgtggtaattcagggag	13	8	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:427487C>T	uc001qif.1	-	19	3045	c.2682G>A	c.(2680-2682)CTG>CTA	p.L894L	KDM5A_uc001qie.1_Silent_p.L894L|KDM5A_uc010sdn.1_Silent_p.L853L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	894					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			skin(2)|ovary(1)	3						GCTCTTGCTTCAGTCGTGGTA	0.463			T 	NUP98	AML								T	427487	C	T	427487	2	4	274	1	0	0	0	0	0	0	0	1	8133	813	29	4		4	KDM5A	12	427487	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	90692	427487	133424408	1043	140349											
CACNA1C	775	broad.mit.edu	37	chr12	2566843	2566843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggccttccgcgtgctgcGccccctgcggctggtgtccg	16	16	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:2566843G>A	uc009zdu.1	+	5	1041	c.728G>A	c.(727-729)CGC>CAC	p.R243H	CACNA1C_uc009zdv.1_Missense_Mutation_p.R243H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R243H|CACNA1C_uc001qke.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R243H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R243H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R243H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R243H|CACNA1C_uc001qko.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R243H|CACNA1C_uc001qku.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R243H|CACNA1C_uc001qks.2_Missense_Mutation_p.R243H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R243H|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	243	I.|Helical; Name=S4 of repeat I; (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	CGCGTGCTGCGCCCCCTGCGG	0.562													A	2566843	G	A	2566843	3	1	274	1	0	0	0	0	1	0	0	0	2540	1087	38	1	746	1	CACNA1C	12	2566843	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2139356	2566843	131285052	1044	140350											
CACNA1C	775	broad.mit.edu	37	chr12	2800254	2800254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgtgaactgcagggaCgcggggcaggaccgagccgg	17	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:2800254C>T	uc009zdu.1	+	50	6868	c.6555C>T	c.(6553-6555)GAC>GAT	p.D2185D	CACNA1C_uc009zdv.1_Silent_p.D2099D|CACNA1C_uc001qkb.2_Silent_p.D2102D|CACNA1C_uc001qkc.2_Silent_p.D2121D|CACNA1C_uc001qke.2_Silent_p.D2091D|CACNA1C_uc001qkf.2_Silent_p.D2110D|CACNA1C_uc001qjz.2_Silent_p.D2102D|CACNA1C_uc001qkd.2_Silent_p.D2121D|CACNA1C_uc001qkg.2_Silent_p.D2108D|CACNA1C_uc009zdw.1_Silent_p.D2143D|CACNA1C_uc001qkh.2_Silent_p.D2110D|CACNA1C_uc001qkl.2_Silent_p.D2150D|CACNA1C_uc001qkn.2_Silent_p.D2102D|CACNA1C_uc001qko.2_Silent_p.D2122D|CACNA1C_uc001qkp.2_Silent_p.D2102D|CACNA1C_uc001qkr.2_Silent_p.D2119D|CACNA1C_uc001qku.2_Silent_p.D2137D|CACNA1C_uc001qkq.2_Silent_p.D2130D|CACNA1C_uc001qks.2_Silent_p.D2102D|CACNA1C_uc001qkt.2_Silent_p.D2121D|CACNA1C_uc001qki.1_Silent_p.D1909D|CACNA1C_uc001qkj.1_Silent_p.D1873D|CACNA1C_uc001qkk.1_Silent_p.D1838D|CACNA1C_uc001qkm.1_Silent_p.D1898D|CACNA1C_uc010sea.1_Silent_p.D793D|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Silent_p.D420D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2185	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	ACTGCAGGGACGCGGGGCAGG	0.682													T	2800254	C	T	2800254	2	4	274	1	0	0	0	0	0	0	0	1	2540	535	19	1		1	CACNA1C	12	2800254	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	233411	2800254	131051641	1045	140351											
KCNA5	3741	broad.mit.edu	37	chr12	5154774	5154774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctacggggacatgagGcccatcactgttgggggcaa	17	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:5154774G>A	uc001qni.2	+	1	1690	c.1461G>A	c.(1459-1461)AGG>AGA	p.R487R		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	487						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GGGACATGAGGCCCATCACTG	0.607													A	5154774	G	A	5154774	2	1	274	1	0	0	0	0	0	0	0	1	8006	1194	42	2		2	KCNA5	12	5154774	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2354520	5154774	128697121	1046	140352											
TAPBPL	55080	broad.mit.edu	37	chr12	6561438	6561438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacacaggagggctggtgCctgctgctctgcctggctct	15	13	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:6561438C>T	uc001qog.3	+	1	262	c.24C>T	c.(22-24)TGC>TGT	p.C8C	LOC678655_uc001qob.2_5'Flank|LOC678655_uc001qoc.2_5'Flank|LOC678655_uc009zel.1_5'Flank|LOC678655_uc009zem.1_5'Flank|LOC678655_uc001qof.2_5'Flank|TAPBPL_uc001qoh.3_5'UTR|TAPBPL_uc001qoi.1_RNA	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like precursor	8					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0						AGGGCTGGTGCCTGCTGCTCT	0.647													T	6561438	C	T	6561438	2	4	274	1	0	0	0	0	0	0	0	1	15550	747	26	2		2	TAPBPL	12	6561438	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1406664	6561438	127290457	1047	140353											
IFFO1	25900	broad.mit.edu	37	chr12	6657974	6657975	+	Frame_Shift_Ins	INS	-	-	C													ccttgcgctcccgcttccgcINSccccccatggatgggacctt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:6657973_6657974G>GC	uc010sfe.2	-	5	1176_1177	c.1122_1123C>GC	c.(1120-1125)gggcggfs	p.G374fs	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_Frame_Shift_Ins_p.G3fs|IFFO1_uc001qpa.2_Frame_Shift_Ins_p.G3fs|IFFO1_uc001qpb.1_Frame_Shift_Ins_p.G40fs|IFFO1_uc001qpc.2_Frame_Shift_Ins_p.G366fs|IFFO1_uc001qpf.2_Frame_Shift_Ins_p.G366fs|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_Frame_Shift_Ins_p.G3fs	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	363						intermediate filament		p.R364fs*19(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCCCGCTTCCGCCCCCCCATGG	0.673													C	6657975	-	C	6657974	7	5	274	1	0	1	1	0	0	0	0	0	7510	726	26	0	613	0	IFFO1	12	6657974	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	96536	6657974	127193921	1048	140354											
USP5	8078	broad.mit.edu	37	chr12	6975193	6975193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgcctccgagaagccGcccaaggacctgggctacat	13	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:6975193G>A	uc001qri.3	+	20	2588	c.2529G>A	c.(2527-2529)CCG>CCA	p.P843P	USP5_uc001qrh.3_Silent_p.P820P|TPI1_uc001qrk.2_5'Flank|TPI1_uc010sfo.1_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	843					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CCGAGAAGCCGCCCAAGGACC	0.537													A	6975193	G	A	6975193	2	1	274	1	0	0	0	0	0	0	0	1	17078	1074	38	1		1	USP5	12	6975193	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	317219	6975193	126876702	1049	140355											
C1S	716	broad.mit.edu	37	chr12	7177939	7177939	+	Frame_Shift_Del	DEL	C	C	-													gactatgcaggaaaatagcaCcccccgtgaggactaatcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:7177938_7177938AC>A	uc001qsj.3	+	14	2769	c.2050_2050AC>A	c.(2050-2052)accfs	p.T684fs	C1S_uc001qsk.3_Frame_Shift_Del_p.T684fs|C1S_uc001qsl.3_Frame_Shift_Del_p.T684fs|C1S_uc009zfr.3_Frame_Shift_Del_p.T517fs|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	684					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)	GGAAAATAGCACCCCCCGTGA	0.493													-	7177939	C	-	7177939	7	5	274	1	0	1	0	1	0	0	0	0	1974	507	18	0	2093	0	C1S	12	7177939	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	202746	7177939	126673956	1050	140356											
CLSTN3	9746	broad.mit.edu	37	chr12	7310099	7310099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgatacccagcgccGcaaccctcatcattgtggtg	10	14	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:7310099G>A	uc001qsr.2	+	17	2820	c.2542G>A	c.(2542-2544)GCA>ACA	p.A848T	CLSTN3_uc001qss.2_Missense_Mutation_p.A860T|CLSTN3_uc001qst.2_Missense_Mutation_p.A256T	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	848	Helical; (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						ACCCAGCGCCGCAACCCTCAT	0.652													A	7310099	G	A	7310099	3	1	274	1	0	0	0	0	1	0	0	0	3563	1087	38	1	2608	1	CLSTN3	12	7310099	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	132160	7310099	126541796	1051	140357											
C3AR1	719	broad.mit.edu	37	chr12	8211428	8211428	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaggctgcctccagaattcCctgaatggactgccttgctt	10	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8211428C>A	uc001qtv.1	-	2	1446	c.1354G>T	c.(1354-1356)GGA>TGA	p.G452*		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	452	Cytoplasmic (Potential).				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			ovary(1)	1				Kidney(36;0.0893)		TCCAGAATTCCCTGAATGGAC	0.443													A	8211428	C	A	8211428	4	1	274	1	0	0	0	0	0	1	0	0	2205	632	22	5	98	5	C3AR1	12	8211428	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	901329	8211428	125640467	1052	140358											
C3AR1	719	broad.mit.edu	37	chr12	8211804	8211804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgttggcacttgatcGtcatctgtgaattggcctaa	13	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8211804G>A	uc001qtv.1	-	2	1070	c.978C>T	c.(976-978)GAC>GAT	p.D326D		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	326	Extracellular (Potential).				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			ovary(1)	1				Kidney(36;0.0893)		GCACTTGATCGTCATCTGTGA	0.458													A	8211804	G	A	8211804	2	1	274	1	0	0	0	0	0	0	0	1	2205	1136	40	1		1	C3AR1	12	8211804	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	376	8211804	125640091	1053	140359											
FAM90A1	55138	broad.mit.edu	37	chr12	8375292	8375292	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaagacggagcccctgtcaGacatttcggtagctgagcga	12	11	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8375292G>T	uc001qui.2	-	7	1080	c.521C>A	c.(520-522)TCT>TAT	p.S174Y	FAM90A1_uc001quh.2_Missense_Mutation_p.S174Y	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	174							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		GCCCCTGTCAGACATTTCGGT	0.572													T	8375292	G	T	8375292	3	4	274	1	0	0	0	0	1	0	0	0	5650	942	33	5	877	5	FAM90A1	12	8375292	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	163488	8375292	125476603	1054	140360											
MFAP5	8076	broad.mit.edu	37	chr12	8804269	8804270	+	Frame_Shift_Ins	INS	-	-	T													aatcatacctgcagtggtatINSttttttcactgagggaggct					rs139330366		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:8804268_8804269A>AT	uc001qut.1	-	6	449_450	c.236_237T>AT	c.(235-237)aatfs	p.N79fs	MFAP5_uc001qus.2_Intron|MFAP5_uc009zge.1_Intron	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	79						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CTGCAGTGGTATTTTTTTCACT	0.426													T	8804270	-	T	8804269	7	5	274	1	0	1	1	0	0	0	0	0	9518	1493	52	0	301	0	MFAP5	12	8804269	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	428977	8804269	125047626	1055	140361											
A2ML1	144568	broad.mit.edu	37	chr12	9004899	9004899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgatgacgcaaaaAcccaccactggaacatcaca	7	13	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:9004899A>C	uc001quz.3	+	20	2655	c.2557A>C	c.(2557-2559)ACC>CCC	p.T853P	A2ML1_uc001qva.1_Missense_Mutation_p.T433P|A2ML1_uc010sgm.1_Missense_Mutation_p.T353P	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	697						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TGACGCAAAAACCCACCACTG	0.517													C	9004899	A	C	9004899	3	2	274	1	0	0	0	0	1	0	0	0	5	43	2	5	2635	5	A2ML1	12	9004899	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	200630	9004899	124846996	1056	140362											
CLEC1A	51267	broad.mit.edu	37	chr12	10233962	10233962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttcctaatctttcttccaTttgagaaatggtgtcttgac	6	8	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10233962T>C	uc001qxb.2	-	3	349	c.265A>G	c.(265-267)ATG>GTG	p.M89V	CLEC1A_uc009zhf.2_Missense_Mutation_p.M1V|CLEC1A_uc001qxc.2_Missense_Mutation_p.M1V|CLEC1A_uc001qxd.2_Missense_Mutation_p.M46V|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	89	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						CTTTCTTCCATTTGAGAAATG	0.398													C	10233962	T	C	10233962	3	2	274	1	0	0	0	0	1	0	0	0	3505	1493	52	3	593	3	CLEC1A	12	10233962	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1229063	10233962	123617933	1057	140363											
KLRC1	3821	broad.mit.edu	37	chr12	10603633	10603633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttttgaaggtttaattcCgcataggttatttcctgttc	8	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10603633C>T	uc001qyl.2	-	2	287	c.123G>A	c.(121-123)GCG>GCA	p.A41A	KLRC1_uc009zhm.1_Silent_p.A41A|KLRC1_uc001qym.2_Silent_p.A41A|KLRC1_uc001qyn.2_Silent_p.A41A|KLRC1_uc001qyo.2_Silent_p.A41A	NM_002259	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C,	41	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0						GGTTTAATTCCGCATAGGTTA	0.383													T	10603633	C	T	10603633	2	4	274	1	0	0	0	0	0	0	0	1	8415	639	23	1		1	KLRC1	12	10603633	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	369671	10603633	123248262	1058	140364											
CSDA	8531	broad.mit.edu	37	chr12	10856665	10856665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacctacggtaccttgggCggtaagttggatttcgatga	12	8	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10856665C>T	uc001qyt.2	-	7	1106	c.863G>A	c.(862-864)CGC>CAC	p.R288H	CSDA_uc001qyu.2_Missense_Mutation_p.R219H	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	288					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					GTACCTTGGGCGGTAAGTTGG	0.502													T	10856665	C	T	10856665	3	4	274	1	0	0	0	0	1	0	0	0	3927	768	27	1	267	1	CSDA	12	10856665	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	253032	10856665	122995230	1059	140365											
TAS2R10	50839	broad.mit.edu	37	chr12	10978282	10978282	+	Frame_Shift_Del	DEL	A	A	-													gtctccaaagggaaatgattAaaaaaatacatgtaattagg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:10978281_10978281TA>T	uc001qyy.1	-	0	588	c.588_588TA>A	c.(586-588)ttafs	p.L196fs		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	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						GGGAAATGATTAAAAAAATAC	0.343													-	10978282	A	-	10978282	7	5	274	1	0	1	0	1	0	0	0	0	15563	372	13	0	340	0	TAS2R10	12	10978282	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	121617	10978282	122873613	1060	140366											
TAS2R14	50840	broad.mit.edu	37	chr12	11091555	11091555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtccagatattagtaagCattctgaacattttttcagt	6	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:11091555C>T	uc010shi.1	-	1	252	c.252G>A	c.(250-252)ATG>ATA	p.M84I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	84	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						TATTAGTAAGCATTCTGAACA	0.378													T	11091555	C	T	11091555	3	4	274	1	0	0	0	0	1	0	0	0	15565	710	25	2	704	2	TAS2R14	12	11091555	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	113273	11091555	122760340	1061	140367											
GRIN2B	2904	broad.mit.edu	37	chr12	13717545	13717545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactggcgctcctcgatcGccaccccatggatgcagctg	11	16	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:13717545G>A	uc001rbt.2	-	13	2806	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	876	Cytoplasmic (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCTCGATCGCCACCCCATG	0.542													A	13717545	G	A	13717545	3	1	274	1	0	0	0	0	1	0	0	0	6780	1087	38	1	1831	1	GRIN2B	12	13717545	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2625990	13717545	120134350	1062	140368											
GRIN2B	2904	broad.mit.edu	37	chr12	13906258	13906258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttccacactcacctatttaGcatattggactggtagattc	7	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:13906258G>T	uc001rbt.2	-	3	1182	c.1003C>A	c.(1003-1005)CTA>ATA	p.L335I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	335	Extracellular (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCTATTTAGCATATTGGAC	0.488													T	13906258	G	T	13906258	3	4	274	1	0	0	0	0	1	0	0	0	6780	962	34	5	3495	5	GRIN2B	12	13906258	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	188713	13906258	119945637	1063	140369											
GRIN2B	2904	broad.mit.edu	37	chr12	14018818	14018818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaatcgaggatctgggCgatggcttcctggtctgtgt	14	7	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:14018818C>T	uc001rbt.2	-	2	504	c.325G>A	c.(325-327)GCC>ACC	p.A109T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	109	Extracellular (Potential).				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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGATCTGGGCGATGGCTTCC	0.542													T	14018818	C	T	14018818	3	4	274	1	0	0	0	0	1	0	0	0	6780	768	27	1	4177	1	GRIN2B	12	14018818	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	112560	14018818	119833077	1064	140370											
EPS8	2059	broad.mit.edu	37	chr12	15819381	15819381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgcttttacctcagggCgtcgggccgcctcttctgtt	10	13	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:15819381C>T	uc009zif.2	-	7	686	c.592G>A	c.(592-594)GCC>ACC	p.A198T	EPS8_uc001rdb.2_Missense_Mutation_p.A198T|EPS8_uc009zig.2_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	198					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		TACCTCAGGGCGTCGGGCCGC	0.393													T	15819381	C	T	15819381	3	4	274	1	0	0	0	0	1	0	0	0	5194	768	27	1	1936	1	EPS8	12	15819381	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1800563	15819381	118032514	1065	140371											
LMO3	55885	broad.mit.edu	37	chr12	16753748	16753748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccttgatctttcggttgCagccagcacaacctttcggc	10	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:16753748C>T	uc001rdk.1	-	2	487	c.47G>A	c.(46-48)TGC>TAC	p.C16Y	LMO3_uc001rdj.1_Missense_Mutation_p.C27Y|LMO3_uc010shy.1_Missense_Mutation_p.C34Y|LMO3_uc001rdl.1_Missense_Mutation_p.C16Y|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Missense_Mutation_p.C16Y|LMO3_uc001rdm.1_Missense_Mutation_p.C16Y|LMO3_uc001rdo.1_RNA|LMO3_uc001rdp.1_RNA|LMO3_uc001rdn.1_Missense_Mutation_p.C16Y|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	16	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				CTTTCGGTTGCAGCCAGCACA	0.493													T	16753748	C	T	16753748	3	4	274	1	0	0	0	0	1	0	0	0	8853	710	25	2	402	2	LMO3	12	16753748	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	934367	16753748	117098147	1066	140372											
SLCO1C1	53919	broad.mit.edu	37	chr12	20885884	20885884	+	Frame_Shift_Del	DEL	G	G	-													tggcccttggaatattctctGgggggatagttatgaaaaaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:20885883_20885883TG>T	uc010sii.2	+	10	1582	c.1227_1227TG>T	c.(1225-1227)tctfs	p.S409fs	SLCO1C1_uc010sij.2_Frame_Shift_Del_p.S360fs|SLCO1C1_uc009zip.3_Frame_Shift_Del_p.S243fs|SLCO1C1_uc001rei.3_Frame_Shift_Del_p.S409fs|SLCO1C1_uc010sik.2_Frame_Shift_Del_p.S291fs	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	409					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)					GAATATTCTCTGGGGGGATAG	0.383													-	20885884	G	-	20885884	7	5	274	1	0	1	0	1	0	0	0	0	14725	1348	47	0	1262	0	SLCO1C1	12	20885884	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	4132136	20885884	112966011	1067	140373											
SLCO1C1	53919	broad.mit.edu	37	chr12	20890154	20890154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatggaatcacatatgTatcagcttgtcttgctggtt	9	6	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:20890154T>C	uc001rej.3	+	12	1851	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	SLCO1C1_uc010sii.1_Missense_Mutation_p.V499A|SLCO1C1_uc010sij.1_Missense_Mutation_p.V450A|SLCO1C1_uc009zip.2_Missense_Mutation_p.V333A|SLCO1C1_uc001rei.2_Missense_Mutation_p.V499A|SLCO1C1_uc010sik.1_Missense_Mutation_p.V381A	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	499	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					ATCACATATGTATCAGCTTGT	0.393													C	20890154	T	C	20890154	3	2	274	1	0	0	0	0	1	0	0	0	14725	1638	57	3	1534	3	SLCO1C1	12	20890154	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	4270	20890154	112961741	1068	140374											
KLHDC5	57542	broad.mit.edu	37	chr12	27950952	27950952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacatcatgagcagagaCgtcaccctgtcgaccagctt	8	13	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:27950952C>T	uc001rij.2	+	3	1448	c.1371C>T	c.(1369-1371)GAC>GAT	p.D457D	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	457	Kelch 6.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					TGAGCAGAGACGTCACCCTGT	0.498													T	27950952	C	T	27950952	2	4	274	1	0	0	0	0	0	0	0	1	8359	535	19	1		1	KLHDC5	12	27950952	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7060798	27950952	105900943	1069	140375											
PTHLH	5744	broad.mit.edu	37	chr12	28116524	28116524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcatcatcagacccaaatCggacggggtggttctttgtg	11	11	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:28116524C>T	uc001rik.2	-	3	584	c.281G>A	c.(280-282)CGA>CAA	p.R94Q	PTHLH_uc001ril.2_Missense_Mutation_p.R94Q|PTHLH_uc001rim.2_Missense_Mutation_p.R94Q|PTHLH_uc001rin.2_Missense_Mutation_p.R94Q	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	94					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)	1	Lung SC(9;0.184)					AGACCCAAATCGGACGGGGTG	0.507													T	28116524	C	T	28116524	3	4	274	1	0	0	0	0	1	0	0	0	12761	884	31	1	264	1	PTHLH	12	28116524	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	165572	28116524	105735371	1070	140376											
ERGIC2	51290	broad.mit.edu	37	chr12	29502999	29502999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacgaggatgtggaattGccctgaaaggagaaaaaaca	12	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:29502999G>A	uc001riv.2	-	9	708	c.575C>T	c.(574-576)GCA>GTA	p.A192V	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	192	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	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)	ATGTGGAATTGCCCTGAAAGG	0.308													A	29502999	G	A	29502999	3	1	274	1	0	0	0	0	1	0	0	0	5224	1319	46	2	582	2	ERGIC2	12	29502999	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1386475	29502999	104348896	1071	140377											
FGD4	121512	broad.mit.edu	37	chr12	32772677	32772677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaaattcagcttggtaGgctctaaattcacagttcga	8	10	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:32772677G>T	uc001rkz.2	+	11	1861	c.1384G>T	c.(1384-1386)GGC>TGC	p.G462C	FGD4_uc001rlc.2_Missense_Mutation_p.G547C|FGD4_uc001rky.2_Missense_Mutation_p.G214C|FGD4_uc001rla.2_Missense_Mutation_p.G118C|FGD4_uc010ske.1_Missense_Mutation_p.G574C|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	462	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			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAGCTTGGTAGGCTCTAAATT	0.398													T	32772677	G	T	32772677	3	4	274	1	0	0	0	0	1	0	0	0	5835	1000	35	5	1418	5	FGD4	12	32772677	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3269678	32772677	101079218	1072	140378											
PKP2	5318	broad.mit.edu	37	chr12	32945632	32945632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaatacagaaggacGgaagcagctttacttgcttt	10	8	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:32945632G>A	uc001rlj.3	-	13	2638	c.2523C>T	c.(2521-2523)TCC>TCT	p.S841S	PKP2_uc001rlk.3_Silent_p.S797S|PKP2_uc010skj.1_Silent_p.S794S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	841	ARM 8.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGAAGGACGGAAGCAGCTT	0.473													A	32945632	G	A	32945632	2	1	274	1	0	0	0	0	0	0	0	1	11985	1103	39	1		1	PKP2	12	32945632	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	172955	32945632	100906263	1073	140379											
SYT10	341359	broad.mit.edu	37	chr12	33532872	33532872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcctgttctgcacacTcctatgacctcattgtgtcc	6	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:33532872T>C	uc001rll.1	-	6	1692	c.1395A>G	c.(1393-1395)GGA>GGG	p.G465G	SYT10_uc009zju.1_Silent_p.G275G	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	465	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCTGCACACTCCTATGACCT	0.438													C	33532872	T	C	33532872	2	2	274	1	0	0	0	0	0	0	0	1	15463	1538	54	3		3	SYT10	12	33532872	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	587240	33532872	100319023	1074	140380											
ALG10	84920	broad.mit.edu	37	chr12	34178860	34178860	+	Frame_Shift_Del	DEL	T	T	-													gcagtatttccaacactttaTttttttaacttcctttatta							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:34178859_34178859AT>A	uc001rlm.3	+	2	750	c.431_431AT>A	c.(430-432)tatfs	p.Y144fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	144					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)				CCAACACTTTATTTTTTTAAC	0.328													-	34178860	T	-	34178860	7	5	274	1	0	1	0	1	0	0	0	0	511	1500	52	0	442	0	ALG10	12	34178860	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	645988	34178860	99673035	1075	140381											
SLC2A13	114134	broad.mit.edu	37	chr12	40223908	40223908	+	Frame_Shift_Del	DEL	C	C	-													taaaatgagtgatatacctgCcccaggctgcctcatttgta							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:40223907_40223907GC>G	uc010skm.2	-	6	1494	c.1443_1443GC>C	c.(1441-1443)ggcfs	p.G481fs	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Frame_Shift_Del_p.G128fs	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	481						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)				TGATATACCTGCCCCAGGCTG	0.373										HNSCC(50;0.14)			-	40223908	C	-	40223908	7	5	274	1	0	1	0	1	0	0	0	0	14542	739	26	0	520	0	SLC2A13	12	40223908	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	6045048	40223908	93627987	1076	140382											
SLC2A13	114134	broad.mit.edu	37	chr12	40422177	40422177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcaatggtctggttaCcacgcatctgagataaaatt	7	10	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:40422177C>T	uc010skm.1	-	3	902	c.851G>A	c.(850-852)GGT>GAT	p.G284D	SLC2A13_uc001rmf.2_Missense_Mutation_p.G284D	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	284	Cytoplasmic (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				GGTCTGGTTACCACGCATCTG	0.388										HNSCC(50;0.14)			T	40422177	C	T	40422177	3	4	274	1	0	0	0	0	1	0	0	0	14542	507	18	4	1127	4	SLC2A13	12	40422177	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	198269	40422177	93429718	1077	140383											
LRRK2	120892	broad.mit.edu	37	chr12	40722217	40722217	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaggagaagaagtggcTgtgaagatttttaataaaca	11	2	0	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:40722217T>C	uc001rmg.3	+	39	5833	c.5712T>C	c.(5710-5712)GCT>GCC	p.A1904A	LRRK2_uc009zjw.2_Silent_p.A742A|LRRK2_uc001rmi.2_Silent_p.A737A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1904	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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGAAGTGGCTGTGAAGATTT	0.323													C	40722217	T	C	40722217	2	2	274	1	0	0	0	0	0	0	0	1	9033	1567	55	3		3	LRRK2	12	40722217	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	300040	40722217	93129678	1078	140384											
MLL2	8085	broad.mit.edu	37	chr12	49431843	49431843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagcagcagggggagggCgctcctcagggcccaagggt	17	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49431843C>T	uc001rta.3	-	34	9296	c.9296G>A	c.(9295-9297)CGC>CAC	p.R3099H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3099					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGGGGAGGGCGCTCCTCAGG	0.647			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			T	49431843	C	T	49431843	3	4	274	1	0	0	0	0	1	0	0	0	9621	768	27	1	7401	1	MLL2	12	49431843	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8709626	49431843	84420052	1079	140385											
MLL2	8085	broad.mit.edu	37	chr12	49432426	49432426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttacagggtaaaaacGgggtctctgaggtgggccct	13	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49432426G>A	uc001rta.3	-	34	8713	c.8713C>T	c.(8713-8715)CGT>TGT	p.R2905C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2905	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGTAAAAACGGGGTCTCTGA	0.617			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49432426	G	A	49432426	3	1	274	1	0	0	0	0	1	0	0	0	9621	1116	39	1	7984	1	MLL2	12	49432426	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	583	49432426	84419469	1080	140386											
LMBR1L	55716	broad.mit.edu	37	chr12	49491834	49491834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggaacacaatgtagaaaTtgcccagccagttgaagcgt	11	8	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49491834T>C	uc001rth.3	-	16	1637	c.1295A>G	c.(1294-1296)AAT>AGT	p.N432S	LMBR1L_uc001rtg.3_Missense_Mutation_p.N427S|LMBR1L_uc001rti.3_Missense_Mutation_p.N412S	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	432	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1						AATGTAGAAATTGCCCAGCCA	0.572											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	49491834	T	C	49491834	3	2	274	1	0	0	0	0	1	0	0	0	8841	1493	52	3	182	3	LMBR1L	12	49491834	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	59408	49491834	84360061	1081	140387											
TROAP	10024	broad.mit.edu	37	chr12	49724418	49724418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctactgtaggattgagcCtgagataccggagtcctctc	11	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49724418C>A	uc001rtx.3	+	13	1957	c.1790C>A	c.(1789-1791)CCT>CAT	p.P597H	TROAP_uc009zlh.2_Missense_Mutation_p.P597H|TROAP_uc001rty.2_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	597	Cys-rich.|4 X 33 AA approximate tandem repeats.|3.				cell adhesion	cytoplasm				ovary(1)	1						AGGATTGAGCCTGAGATACCG	0.627													A	49724418	C	A	49724418	3	1	274	1	0	0	0	0	1	0	0	0	16572	681	24	5	1938	5	TROAP	12	49724418	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	232584	49724418	84127477	1082	140388											
DNAJC22	79962	broad.mit.edu	37	chr12	49742746	49742746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggaagggacagccacGccctgctctggatgctgacc	13	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:49742746G>A	uc001rua.2	+	2	492	c.91G>A	c.(91-93)GCC>ACC	p.A31T	DNAJC22_uc001rub.2_Missense_Mutation_p.A31T	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	31	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						GGACAGCCACGCCCTGCTCTG	0.667													A	49742746	G	A	49742746	3	1	274	1	0	0	0	0	1	0	0	0	4641	1087	38	1	93	1	DNAJC22	12	49742746	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	18328	49742746	84109149	1083	140389											
ACVRL1	94	broad.mit.edu	37	chr12	52309876	52309876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacatcggcaacaacccgAgagtgggcaccaagcggtac	13	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52309876A>G	uc001rzj.2	+	8	1388	c.1105A>G	c.(1105-1107)AGA>GGA	p.R369G	ACVRL1_uc001rzk.2_Missense_Mutation_p.R369G|ACVRL1_uc010snm.1_Missense_Mutation_p.R195G	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	369	Cytoplasmic (Potential).|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			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACAACCCGAGAGTGGGCAC	0.612									Hereditary_Hemorrhagic_Telangiectasia				G	52309876	A	G	52309876	3	3	274	1	0	0	0	0	1	0	0	0	225	296	11	3	1131	3	ACVRL1	12	52309876	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2567130	52309876	81542019	1084	140390											
KRT6B	3854	broad.mit.edu	37	chr12	52845468	52845468	+	Frame_Shift_Del	DEL	G	G	-													tgacctcttggatgcctccaGgggggcacacagggaagcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52845467_52845467AG>A	uc001sak.3	-	0	444	c.396_396CT>T	c.(394-396)cctfs	p.P132fs		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	132	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)		GGATGCCTCCAGGGGGGCACA	0.642													-	52845468	G	-	52845468	7	5	274	1	0	1	0	1	0	0	0	0	8481	1000	35	0	1335	0	KRT6B	12	52845468	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	535592	52845468	81006427	1085	140391											
KRT6C	286887	broad.mit.edu	37	chr12	52864299	52864299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgtacctgcttcttgAcatggtcgatctcagatctc	7	13	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52864299A>G	uc001sal.3	-	6	1241	c.1193T>C	c.(1192-1194)GTC>GCC	p.V398A		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	398	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTGCTTCTTGACATGGTCGAT	0.483													G	52864299	A	G	52864299	3	3	274	1	0	0	0	0	1	0	0	0	8482	275	10	3	517	3	KRT6C	12	52864299	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	18831	52864299	80987596	1086	140392											
KRT6A	3853	broad.mit.edu	37	chr12	52884403	52884403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggcttctctgagcaatctCctcatattgggccttgacct	8	14	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:52884403C>T	uc001sam.2	-	5	1236	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	343	Rod.|Coil 2.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAGCAATCTCCTCATATTGG	0.577													T	52884403	C	T	52884403	3	4	274	1	0	0	0	0	1	0	0	0	8480	864	30	4	687	4	KRT6A	12	52884403	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	20104	52884403	80967492	1087	140393											
KRT3	3850	broad.mit.edu	37	chr12	53186123	53186123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtccaggtccagggagCgattattgtccatggacagc	13	10	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:53186123C>T	uc001say.2	-	5	1154	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	363	Rod.|Linker 12.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						GTCCAGGGAGCGATTATTGTC	0.522													T	53186123	C	T	53186123	3	4	274	1	0	0	0	0	1	0	0	0	8466	768	27	1	818	1	KRT3	12	53186123	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	301720	53186123	80665772	1088	140394											
ESPL1	9700	broad.mit.edu	37	chr12	53682349	53682349	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gactccagctccgggccctgAggcagcttctggagaatggg	15	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:53682349A>T	uc001sck.2	+	20	4665	c.4574A>T	c.(4573-4575)GAG>GTG	p.E1525V	ESPL1_uc001scj.2_Missense_Mutation_p.E1200V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1525					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			lung(1)|kidney(1)|skin(1)	3						CCGGGCCCTGAGGCAGCTTCT	0.577											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53682349	A	T	53682349	3	4	274	1	0	0	0	0	1	0	0	0	5253	304	11	5	4648	5	ESPL1	12	53682349	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	496226	53682349	80169546	1089	140395											
HOXC12	3228	broad.mit.edu	37	chr12	54350255	54350255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaactctcagaccgcttgAatcttagtgaccagcaggtc	11	11	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54350255A>G	uc010soq.1	+	2	754	c.754A>G	c.(754-756)AAT>GAT	p.N252D		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	252	Homeobox.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						AGACCGCTTGAATCTTAGTGA	0.507													G	54350255	A	G	54350255	3	3	274	1	0	0	0	0	1	0	0	0	7311	246	9	3	760	3	HOXC12	12	54350255	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	667906	54350255	79501640	1090	140396											
ZNF385A	25946	broad.mit.edu	37	chr12	54765373	54765373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccccaggcaaggaagccGgggctggagtccccccttca	12	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54765373G>A	uc001sfw.1	-	4	671	c.488C>T	c.(487-489)CCG>CTG	p.P163L	ZNF385A_uc001sfv.1_Missense_Mutation_p.P144L|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.P163L|ZNF385A_uc001sfy.3_Missense_Mutation_p.P183L|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						CAAGGAAGCCGGGGCTGGAGT	0.622													A	54765373	G	A	54765373	3	1	274	1	0	0	0	0	1	0	0	0	17873	1116	39	1	628	1	ZNF385A	12	54765373	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	415118	54765373	79086522	1091	140397											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925968	54925968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggttttctcctcccaCtgcccatttcttatgggtcc	6	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54925968C>T	uc001sgc.3	+	26	2875	c.2796C>T	c.(2794-2796)CAC>CAT	p.H932H	NCKAP1L_uc010sox.1_Silent_p.H474H|NCKAP1L_uc010soy.1_Silent_p.H882H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	932					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			ovary(3)|central_nervous_system(1)	4						TCTCCTCCCACTGCCCATTTC	0.403													T	54925968	C	T	54925968	2	4	274	1	0	0	0	0	0	0	0	1	10222	564	20	4		4	NCKAP1L	12	54925968	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	160595	54925968	78925927	1092	140398											
NCKAP1L	3071	broad.mit.edu	37	chr12	54936433	54936433	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcctgcttcgaaatgcCtatcgggaggtgtctcgggc	13	10	1	0	rs137902294		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:54936433C>A	uc001sgc.3	+	31	3427	c.3348C>A	c.(3346-3348)GCC>GCA	p.A1116A	NCKAP1L_uc010sox.1_Silent_p.A658A|NCKAP1L_uc010soy.1_Silent_p.A1066A	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1116					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			ovary(3)|central_nervous_system(1)	4						TTCGAAATGCCTATCGGGAGG	0.537													A	54936433	C	A	54936433	2	1	274	1	0	0	0	0	0	0	0	1	10222	668	24	5		5	NCKAP1L	12	54936433	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	10465	54936433	78915462	1093	140399											
OR9K2	441639	broad.mit.edu	37	chr12	55524524	55524524	+	Frame_Shift_Del	DEL	A	A	-													aaagatgtccaagaggctctAaaaaaatttctagagaagaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:55524524delA	uc010spe.1	+	1	972	c.972delA	c.(970-972)CTAfs	p.L324fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	324	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						AAGAGGCTCTAAAAAAATTTC	0.323													-	55524524	A	-	55524524	7	5	274	1	0	1	0	1	0	0	0	0	11254	349	13	0	974	0	OR9K2	12	55524524	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	588091	55524524	78327371	1094	140400											
OR6C1	390321	broad.mit.edu	37	chr12	55714399	55714399	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagaatgagaaaccatacaGaaataacagagtttattctt	7	5	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:55714399G>T	uc010spi.1	+	1	16	c.16G>T	c.(16-18)GAA>TAA	p.E6*		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						AAACCATACAGAAATAACAGA	0.368													T	55714399	G	T	55714399	4	4	274	1	0	0	0	0	0	1	0	0	11190	943	33	5	18	5	OR6C1	12	55714399	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	189875	55714399	78137496	1095	140401											
ERBB3	2065	broad.mit.edu	37	chr12	56495025	56495025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggagcccacggccacgcGgagatagcgcctaccattcc	12	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56495025G>A	uc001sjh.2	+	27	3575	c.3382G>A	c.(3382-3384)GGA>AGA	p.G1128R	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.G485R|ERBB3_uc010sqc.1_Missense_Mutation_p.G1069R|ERBB3_uc009zok.2_Missense_Mutation_p.G393R|ERBB3_uc001sjk.2_Missense_Mutation_p.G369R|ERBB3_uc001sjl.2_Missense_Mutation_p.G248R	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1128	Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACGGCCACGCGGAGATAGCGC	0.587													A	56495025	G	A	56495025	3	1	274	1	0	0	0	0	1	0	0	0	5208	1117	39	1	3619	1	ERBB3	12	56495025	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	780626	56495025	77356870	1096	140402											
ANKRD52	283373	broad.mit.edu	37	chr12	56647935	56647935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagccacatgcagtggCgtgaagcccttgtcattcgg	12	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56647935C>T	uc001skm.3	-	8	912	c.822G>A	c.(820-822)ACG>ACA	p.T274T	ANKRD52_uc001skn.1_RNA	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	274	ANK 9.						protein binding			ovary(2)	2						CATGCAGTGGCGTGAAGCCCT	0.557													T	56647935	C	T	56647935	2	4	274	1	0	0	0	0	0	0	0	1	678	755	27	1		1	ANKRD52	12	56647935	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	152910	56647935	77203960	1097	140403											
PAN2	9924	broad.mit.edu	37	chr12	56712865	56712876	+	Splice_Site	DEL	AACTCACCCAGA	AACTCACCCAGA	-													aggggcctacaaggcagagcAactcacccagaaagtaccaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56712864_56712875CAACTCACCCAGA>C	uc001skx.3	-	24	3753	c.3376_splice	c.e24+1	p.D1126_splice	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Splice_Site_p.D274_splice|PAN2_uc001sky.3_Splice_Site_p.D1122_splice|PAN2_uc001skz.3_Splice_Site_p.D1125_splice	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1126	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						CAAGGCAGAGCAACTCACCCAGAAAGTACCAA	0.481													-	56712876	AACTCACCCAGA	-	56712865	8	5	274	1	0	1	0	1	0	0	1	0	11414	145	5	0		0	PAN2	12	56712865	Splice_Site	DEL	AACTCACCCAGA	TCGA-HU-A4GU-01A-11D-A25D-08	64930	56712865	77139030	1098	140404											
TIMELESS	8914	broad.mit.edu	37	chr12	56815562	56815562	+	Frame_Shift_Del	DEL	C	C	-													ctgcagctccaactcctgatCccccgtccacagtacaatat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56815561_56815561TC>T	uc001slf.2	-	21	2843	c.2675_2675GA>A	c.(2674-2676)gatfs	p.D892fs		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	892					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						CAACTCCTGATCCCCCGTCCA	0.517													-	56815562	C	-	56815562	7	5	274	1	0	1	0	1	0	0	0	0	15901	855	30	0	984	0	TIMELESS	12	56815562	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	102697	56815562	77036333	1099	140405											
MIP	4284	broad.mit.edu	37	chr12	56847486	56847486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagagcacgaactggagCgtcaggaagatctccactgt	12	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56847486C>T	uc001slh.2	-	2	446	c.414G>A	c.(412-414)ACG>ACA	p.T138T		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	138	Helical; (By similarity).		T -> R (in ADC; progressive polymorphic and lamellar cataract; loss of activity).		response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						CGAACTGGAGCGTCAGGAAGA	0.617													T	56847486	C	T	56847486	2	4	274	1	0	0	0	0	0	0	0	1	9591	755	27	1		1	MIP	12	56847486	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	31924	56847486	77004409	1100	140406											
GLS2	27165	broad.mit.edu	37	chr12	56868661	56868661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagggcagccatcatgTccacccccttaggaaagcac	9	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:56868661T>C	uc001slj.2	-	11	1295	c.1016A>G	c.(1015-1017)GAC>GGC	p.D339G	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.D74G|GLS2_uc009zot.2_5'UTR	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	339					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCCATCATGTCCACCCCCTT	0.547													C	56868661	T	C	56868661	3	2	274	1	0	0	0	0	1	0	0	0	6464	1667	58	3	824	3	GLS2	12	56868661	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	21175	56868661	76983234	1101	140407											
SHMT2	6472	broad.mit.edu	37	chr12	57627083	57627083	+	Frame_Shift_Del	DEL	C	C	-													ttcccatccctgcaggggggCccccacaatcatgccattgc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:57627082_57627082GC>G	uc001snf.2	+	7	1183	c.977_977GC>G	c.(976-978)ggcfs	p.G326fs	SHMT2_uc001snh.2_Frame_Shift_Del_p.G328fs|SHMT2_uc009zpk.2_Frame_Shift_Del_p.G316fs|SHMT2_uc001sng.2_Frame_Shift_Del_p.G222fs|SHMT2_uc001sni.2_Frame_Shift_Del_p.G305fs|SHMT2_uc010srg.2_Frame_Shift_Del_p.G335fs|SHMT2_uc010srh.2_Frame_Shift_Del_p.G305fs|SHMT2_uc001snj.2_Frame_Shift_Del_p.G230fs|SHMT2_uc010sri.2_Frame_Shift_Del_p.G305fs|SHMT2_uc001snk.2_Frame_Shift_Del_p.G230fs|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	326						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)	CTGCAGGGGGGCCCCCACAAT	0.587													-	57627083	C	-	57627083	7	5	274	1	0	1	0	1	0	0	0	0	14286	726	26	0	1008	0	SHMT2	12	57627083	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	758422	57627083	76224812	1102	140408											
MBD6	114785	broad.mit.edu	37	chr12	57920934	57920934	+	Frame_Shift_Del	DEL	C	C	-													acttttccccccactttcagCcccccctaccctcatagctt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:57920933_57920933GC>G	uc001soj.1	+	6	2229	c.2005_2005GC>G	c.(2005-2007)gccfs	p.A669fs	MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	669	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCACTTTCAGCCCCCCCTAC	0.637													-	57920934	C	-	57920934	7	5	274	1	0	1	0	1	0	0	0	0	9348	739	26	0	2024	0	MBD6	12	57920934	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	293851	57920934	75930961	1103	140409											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021960	58021960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctccagccgcgtccgcGccgtgaagacgaagtcgtcg	13	16	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:58021960G>A	uc001spg.1	-	9	1520	c.1088C>T	c.(1087-1089)GCG>GTG	p.A363V	B4GALNT1_uc010sru.1_Missense_Mutation_p.A308V	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	363	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGCGTCCGCGCCGTGAAGAC	0.647													A	58021960	G	A	58021960	3	1	274	1	0	0	0	0	1	0	0	0	1266	1087	38	1	525	1	B4GALNT1	12	58021960	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	101026	58021960	75829935	1104	140410											
XRCC6BP1	91419	broad.mit.edu	37	chr12	58335595	58335595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctggcccaggggaatccCcagcaagggttcttctccag	12	14	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:58335595C>T	uc001sqp.2	+	1	151	c.111C>T	c.(109-111)CCC>CCT	p.P37P		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	37					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			ovary(1)	1						AGGGGAATCCCCAGCAAGGGT	0.542													T	58335595	C	T	58335595	2	4	274	1	0	0	0	0	0	0	0	1	17455	610	22	4		4	XRCC6BP1	12	58335595	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	313635	58335595	75516300	1105	140411											
IRAK3	11213	broad.mit.edu	37	chr12	66610954	66610955	+	Frame_Shift_Ins	INS	-	-	A													ctttctgtatatgtaggagaINSaaaaaatgcagtgtaagaag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:66610953_66610954G>GA	uc001sth.3	+	5	693_694	c.591_592G>GA	c.(589-594)gagaaafs	p.E197fs	IRAK3_uc010ssy.2_Frame_Shift_Ins_p.E136fs	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	197	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|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 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 NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|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)		ATATGTAGGAGAAAAAAATGCA	0.361													A	66610955	-	A	66610954	7	5	274	1	0	1	1	0	0	0	0	0	7824	247	9	0	614	0	IRAK3	12	66610954	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	8275359	66610954	67240941	1106	140412											
HELB	92797	broad.mit.edu	37	chr12	66696387	66696387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagttcaggagaagcatgGccaggtcgagtccgtacctg	14	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:66696387G>A	uc001sti.2	+	1	32	c.4G>A	c.(4-6)GCC>ACC	p.A2T	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	2					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAGAAGCATGGCCAGGTCGAG	0.552													A	66696387	G	A	66696387	3	1	274	1	0	0	0	0	1	0	0	0	7045	1203	42	2	6	2	HELB	12	66696387	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	85433	66696387	67155508	1107	140413											
MDM2	4193	broad.mit.edu	37	chr12	69222698	69222698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagtgaatctacagggaCgccatcgaatccggtaatgt	11	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:69222698C>T	uc001sui.2	+	8	958	c.671C>T	c.(670-672)ACG>ATG	p.T224M	MDM2_uc009zri.2_Missense_Mutation_p.T179M|MDM2_uc009zqx.2_Missense_Mutation_p.T169M|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.T213M|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.T218M|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	218	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTACAGGGACGCCATCGAAT	0.408			A		sarcoma|glioma|colorectal|other								T	69222698	C	T	69222698	3	4	274	1	0	0	0	0	1	0	0	0	9413	536	19	1	701	1	MDM2	12	69222698	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2526311	69222698	64629197	1108	140414											
KCNC2	3747	broad.mit.edu	37	chr12	75444468	75444468	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtacatatccccataAcccagggtagtcatggtcac	11	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:75444468A>C	uc001sxg.1	-	3	1861	c.1317T>G	c.(1315-1317)GGT>GGG	p.G439G	KCNC2_uc009zry.2_Silent_p.G439G|KCNC2_uc001sxe.2_Silent_p.G439G|KCNC2_uc001sxf.2_Silent_p.G439G|KCNC2_uc010stw.1_Silent_p.G439G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	439	Selectivity filter (By similarity).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TATCCCCATAACCCAGGGTAG	0.537													C	75444468	A	C	75444468	2	2	274	1	0	0	0	0	0	0	0	1	8015	30	2	5		5	KCNC2	12	75444468	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6221770	75444468	58407427	1109	140415											
E2F7	144455	broad.mit.edu	37	chr12	77436971	77436971	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatgtcatagaggcgtcGtacctttgcttgaagatata	11	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:77436971G>A	uc001sym.3	-	7	1233	c.997C>T	c.(997-999)CGA>TGA	p.R333*		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	333	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TAGAGGCGTCGTACCTTTGCT	0.443													A	77436971	G	A	77436971	4	1	274	1	0	0	0	0	0	1	0	0	4872	1153	40	1	1766	1	E2F7	12	77436971	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1992503	77436971	56414924	1110	140416											
LRRIQ1	84125	broad.mit.edu	37	chr12	85531634	85531634	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatttttgtttaggcagttTggaagggctttattttgcga	11	4	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:85531634T>A	uc001tac.2	+	19	4327	c.4216T>A	c.(4216-4218)TGG>AGG	p.W1406R		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1406	IQ 3.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TTAGGCAGTTTGGAAGGGCTT	0.323													A	85531634	T	A	85531634	3	1	274	1	0	0	0	0	1	0	0	0	9029	1812	63	5	4290	5	LRRIQ1	12	85531634	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	8094663	85531634	48320261	1111	140417											
LRRIQ1	84125	broad.mit.edu	37	chr12	85554491	85554491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagagatggttactttgaAggtatggcttaataacagat	11	3	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:85554491A>C	uc001tac.2	+	24	4932	c.4821A>C	c.(4819-4821)GAA>GAC	p.E1607D		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1607										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GTTACTTTGAAGGTATGGCTT	0.264													C	85554491	A	C	85554491	3	2	274	1	0	0	0	0	1	0	0	0	9029	86	3	5	4915	5	LRRIQ1	12	85554491	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	22857	85554491	48297404	1112	140418											
C12orf50	160419	broad.mit.edu	37	chr12	88379656	88379656	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggtttgggttccctgTtagcatggactttattgtag	14	5	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:88379656T>A	uc001tam.1	-	11	1265	c.1097A>T	c.(1096-1098)AAC>ATC	p.N366I	C12orf50_uc001tan.2_Missense_Mutation_p.N381I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	366										skin(2)|ovary(1)	3						GGGTTCCCTGTTAGCATGGAC	0.498													A	88379656	T	A	88379656	3	1	274	1	0	0	0	0	1	0	0	0	1695	1725	60	5	159	5	C12orf50	12	88379656	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2825165	88379656	45472239	1113	140419											
TMTC3	160418	broad.mit.edu	37	chr12	88554465	88554465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttcagtatactttgCcattactatgtactactgct	4	9	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:88554465C>T	uc001tau.2	+	6	854	c.634C>T	c.(634-636)CCA>TCA	p.P212S	TMTC3_uc009zsm.2_RNA	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	212	Helical; (Potential).					integral to membrane	binding			skin(1)	1						GTATACTTTGCCATTACTATG	0.338													T	88554465	C	T	88554465	3	4	274	1	0	0	0	0	1	0	0	0	16259	739	26	2	652	2	TMTC3	12	88554465	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	174809	88554465	45297430	1114	140420											
ATP2B1	490	broad.mit.edu	37	chr12	89998030	89998030	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgtcatagacatttcGtccccacataactgctttaa	6	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:89998030G>A	uc001tbh.2	-	15	2717	c.2536C>T	c.(2536-2538)CGA>TGA	p.R846*	ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R846*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R516*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	846	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TAGACATTTCGTCCCCACATA	0.393													A	89998030	G	A	89998030	4	1	274	1	0	0	0	0	0	1	0	0	1139	1153	40	1	1308	1	ATP2B1	12	89998030	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1443565	89998030	43853865	1115	140421											
EPYC	1833	broad.mit.edu	37	chr12	91358060	91358060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatataagtcaaatttttaAcattgcagaacgtatcttcg	6	6	2	1	rs1135867		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:91358060A>G	uc001tbk.2	-	7	935	c.842T>C	c.(841-843)GTT>GCT	p.V281A		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	281				V -> G (in Ref. 1; AAC50945).	female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						CAAATTTTTAACATTGCAGAA	0.323													G	91358060	A	G	91358060	3	3	274	1	0	0	0	0	1	0	0	0	5201	43	2	3	130	3	EPYC	12	91358060	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1360030	91358060	42493835	1116	140422											
CCDC38	120935	broad.mit.edu	37	chr12	96288870	96288870	+	Frame_Shift_Del	DEL	A	A	-													tttggagacatttgcagcagAaaaaaaccatatttcatata							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:96288870delA	uc001tek.1	-	8	903	c.669delT	c.(667-669)TTTfs	p.F223fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	223										skin(1)	1						TTTGCAGCAGAAAAAAACCAT	0.338													-	96288870	A	-	96288870	7	5	274	1	0	1	0	1	0	0	0	0	2810	243	9	0	1058	0	CCDC38	12	96288870	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	4930810	96288870	37563025	1117	140423											
ACTR6	64431	broad.mit.edu	37	chr12	100613858	100613858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccaggatttagggatcGggtttactcagaagttcgat	11	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:100613858G>A	uc001thb.1	+	10	1051	c.995G>A	c.(994-996)CGG>CAG	p.R332Q	ACTR6_uc001thc.1_Missense_Mutation_p.R224Q|ACTR6_uc001thd.1_Missense_Mutation_p.R312Q|ACTR6_uc009ztu.1_Missense_Mutation_p.R137Q|ACTR6_uc001the.1_Missense_Mutation_p.R250Q|ACTR6_uc001thf.1_Missense_Mutation_p.R230Q|uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	332						cytoplasm|cytoskeleton				ovary(1)	1						TTTAGGGATCGGGTTTACTCA	0.373													A	100613858	G	A	100613858	3	1	274	1	0	0	0	0	1	0	0	0	216	1116	39	1	1033	1	ACTR6	12	100613858	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4324988	100613858	33238037	1118	140424											
SLC17A8	246213	broad.mit.edu	37	chr12	100813745	100813745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaatcattgaccaggaCgaattagctgaggagataga	13	5	1	4	rs141294063		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:100813745C>T	uc010svi.1	+	12	1891	c.1578C>T	c.(1576-1578)GAC>GAT	p.D526D	SLC17A8_uc009ztx.2_Silent_p.D476D	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	526	Cytoplasmic (Potential).				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			ovary(3)	3						TTGACCAGGACGAATTAGCTG	0.473													T	100813745	C	T	100813745	2	4	274	1	0	0	0	0	0	0	0	1	14423	535	19	1		1	SLC17A8	12	100813745	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	199887	100813745	33038150	1119	140425											
ANO4	121601	broad.mit.edu	37	chr12	101430912	101430912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggctcctatgaagctgCgtttcccctgcatgaggtat	10	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:101430912C>T	uc010svm.1	+	10	1453	c.881C>T	c.(880-882)GCG>GTG	p.A294V	ANO4_uc001thw.2_Missense_Mutation_p.A259V|ANO4_uc001thx.2_Missense_Mutation_p.A294V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	294	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TATGAAGCTGCGTTTCCCCTG	0.343										HNSCC(74;0.22)			T	101430912	C	T	101430912	3	4	274	1	0	0	0	0	1	0	0	0	699	768	27	1	806	1	ANO4	12	101430912	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	617167	101430912	32420983	1120	140426											
UTP20	27340	broad.mit.edu	37	chr12	101723149	101723149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacattagtcatctgatcagCgcatacctgccgaagatttt	7	10	3	2	rs144955025		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:101723149C>T	uc001tia.1	+	27	3495	c.3339C>T	c.(3337-3339)AGC>AGT	p.S1113S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1113					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			ovary(2)|breast(2)	4						ATCTGATCAGCGCATACCTGC	0.403													T	101723149	C	T	101723149	2	4	274	1	0	0	0	0	0	0	0	1	17096	767	27	1		1	UTP20	12	101723149	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	292237	101723149	32128746	1121	140427											
GNPTAB	79158	broad.mit.edu	37	chr12	102155084	102155084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatatcctcagaatggcGcactttgtgaaatgacgtct	9	10	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:102155084G>A	uc001tit.2	-	15	3135	c.2956C>T	c.(2956-2958)CGC>TGC	p.R986C		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	986					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TCAGAATGGCGCACTTTGTGA	0.363													A	102155084	G	A	102155084	3	1	274	1	0	0	0	0	1	0	0	0	6545	1087	38	1	842	1	GNPTAB	12	102155084	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	431935	102155084	31696811	1122	140428											
ACACB	32	broad.mit.edu	37	chr12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagcttcaagccaacGggactgggacacaaggtctg	12	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:109577565G>A	uc001tob.2	+	2	474	c.355G>A	c.(355-357)GGG>AGG	p.G119R	ACACB_uc001toc.2_Missense_Mutation_p.G119R	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	119					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCAAGCCAACGGGACTGGGAC	0.622													A	109577565	G	A	109577565	3	1	274	1	0	0	0	0	1	0	0	0	107	1116	39	1	357	1	ACACB	12	109577565	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	7422481	109577565	24274330	1123	140429											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc					rs104895373		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662													-	110019240	C	-	110019240	7	5	274	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	441675	110019240	23832655	1124	140430											
ALDH2	217	broad.mit.edu	37	chr12	112235973	112235973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggtgggggcattgctgCtgaccgtggttacttcatcc	15	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:112235973C>T	uc001tst.2	+	10	1616	c.1175C>T	c.(1174-1176)GCT>GTT	p.A392V	ALDH2_uc010syi.1_Missense_Mutation_p.A345V|ALDH2_uc009zvy.2_Missense_Mutation_p.A316V	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	392					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GGCATTGCTGCTGACCGTGGT	0.567			T	HMGA2	leiomyoma								T	112235973	C	T	112235973	3	4	274	1	0	0	0	0	1	0	0	0	496	797	28	2	1213	2	ALDH2	12	112235973	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2216733	112235973	21615922	1125	140431											
C12orf51	283450	broad.mit.edu	37	chr12	112610662	112610662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggacatcgatgcatgcGcaccttggggtggggacagg	17	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:112610662G>A	uc009zwc.2	-	60	10350	c.10332C>T	c.(10330-10332)TGC>TGT	p.C3444C		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CGATGCATGCGCACCTTGGGG	0.587													A	112610662	G	A	112610662	2	1	274	1	0	0	0	0	0	0	0	1	1696	1079	38	1		1	C12orf51	12	112610662	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	374689	112610662	21241233	1126	140432											
RPL6	6128	broad.mit.edu	37	chr12	112843672	112843672	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacctctttttctgtgtcGaagatctcaccttcctggtg	7	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:112843672G>A	uc001ttu.2	-	6	928	c.699C>T	c.(697-699)TTC>TTT	p.F233F	RPL6_uc001ttv.2_Silent_p.F233F	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	233					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			large_intestine(1)	1						TTTCTGTGTCGAAGATCTCAC	0.418													A	112843672	G	A	112843672	2	1	274	1	0	0	0	0	0	0	0	1	13598	1049	37	1		1	RPL6	12	112843672	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	233010	112843672	21008223	1127	140433											
OAS1	4938	broad.mit.edu	37	chr12	113348938	113348938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgacctgcagaaagagggCgagttctccacctgcttcac	10	14	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:113348938C>T	uc001tud.2	+	3	658	c.552C>T	c.(550-552)GGC>GGT	p.G184G	OAS1_uc010syn.1_Silent_p.G183G|OAS1_uc010syo.1_Nonsense_Mutation_p.R168*|OAS1_uc001tub.2_Silent_p.G184G|OAS1_uc001tuc.2_Silent_p.G184G|OAS1_uc009zwf.2_Silent_p.G183G	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	184					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			ovary(2)	2						AGAAAGAGGGCGAGTTCTCCA	0.527													T	113348938	C	T	113348938	2	4	274	1	0	0	0	0	0	0	0	1	10799	755	27	1		1	OAS1	12	113348938	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	505266	113348938	20502957	1128	140434											
DDX54	79039	broad.mit.edu	37	chr12	113603681	113603681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactcaggcgagggcgccGggcgtgagcgcacatactgc	17	12	1	1	rs150376630	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:113603681G>A	uc001tup.2	-	13	1599	c.1571C>T	c.(1570-1572)CCG>CTG	p.P524L	DDX54_uc001tuq.3_Missense_Mutation_p.P524L	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	524					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			skin(2)|central_nervous_system(1)	3						CGAGGGCGCCGGGCGTGAGCG	0.652													A	113603681	G	A	113603681	3	1	274	1	0	0	0	0	1	0	0	0	4372	1116	39	1	1109	1	DDX54	12	113603681	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	254743	113603681	20248214	1129	140435											
DDX54	79039	broad.mit.edu	37	chr12	113618785	113618785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgttctgggcacgcaCcatctcccgggtgtccggct	11	15	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:113618785C>T	uc001tup.2	-	2	281	c.253G>A	c.(253-255)GTG>ATG	p.V85M	DDX54_uc001tuq.3_Missense_Mutation_p.V85M	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	85					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			skin(2)|central_nervous_system(1)	3						TGGGCACGCACCATCTCCCGG	0.622													T	113618785	C	T	113618785	3	4	274	1	0	0	0	0	1	0	0	0	4372	507	18	4	2471	4	DDX54	12	113618785	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	15104	113618785	20233110	1130	140436											
NOS1	4842	broad.mit.edu	37	chr12	117672391	117672391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	taaagccgtgttccgctcctCcagcagttccactttcacca	6	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:117672391C>G	uc001twm.1	-	21	3900	c.3214G>C	c.(3214-3216)GAG>CAG	p.E1072Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1072	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCCGCTCCTCCAGCAGTTCC	0.592													G	117672391	C	G	117672391	3	3	274	1	0	0	0	0	1	0	0	0	10541	864	30	5	1126	5	NOS1	12	117672391	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4053606	117672391	16179504	1131	140437											
NOS1	4842	broad.mit.edu	37	chr12	117768790	117768790	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgctccttcaccagaaatcCcaggcccccaactttgcgct	6	19	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:117768790C>A	uc001twm.1	-	2	771	c.85G>T	c.(85-87)GGA>TGA	p.G29*		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	29	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCAGAAATCCCAGGCCCCCA	0.562													A	117768790	C	A	117768790	4	1	274	1	0	0	0	0	0	1	0	0	10541	632	22	5	4331	5	NOS1	12	117768790	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	96399	117768790	16083105	1132	140438											
VSIG10	54621	broad.mit.edu	37	chr12	118511549	118511549	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcacccctacagggcTgtcagctcggcagatgtagt	10	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:118511549T>G	uc001tws.2	-	5	1508	c.1174A>C	c.(1174-1176)AGC>CGC	p.S392R		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	392	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane					0						CCTACAGGGCTGTCAGCTCGG	0.577													G	118511549	T	G	118511549	3	3	274	1	0	0	0	0	1	0	0	0	17220	1580	55	5	468	5	VSIG10	12	118511549	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	742759	118511549	15340346	1133	140439											
HNF1A	6927	broad.mit.edu	37	chr12	121426831	121426831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagcagcgagaggtggcGcagcgtaagtaatgacccta	14	10	0	2	rs149278462		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:121426831G>A	uc001tzg.2	+	2	545	c.522G>A	c.(520-522)GCG>GCA	p.A174A	HNF1A_uc001tze.1_Silent_p.A174A|HNF1A_uc001tzf.2_Silent_p.A174A|HNF1A_uc010szn.1_Silent_p.A174A	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	174					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			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAGGTGGCGCAGCGTAAGT	0.607									Hepatic_Adenoma_Familial_Clustering_of				A	121426831	G	A	121426831	2	1	274	1	0	0	0	0	0	0	0	1	7251	1074	38	1		1	HNF1A	12	121426831	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2915282	121426831	12425064	1134	140440											
HNF1A	6927	broad.mit.edu	37	chr12	121434361	121434361	+	Frame_Shift_Del	DEL	C	C	-													taggtctcagcagctgggggCcccctcccccctgtcagcac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:121434360_121434360GC>G	uc001tzg.3	+	5	1147	c.1124_1124GC>G	c.(1123-1125)ggcfs	p.G375fs	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Frame_Shift_Del_p.G375fs|HNF1A_uc001tzf.3_Frame_Shift_Del_p.G375fs|HNF1A_uc010szn.2_Frame_Shift_Del_p.G375fs|HNF1A_uc021rfa.1_Frame_Shift_Del_p.G375fs|HNF1A_uc021rfb.1_Frame_Shift_Del_p.G247fs|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	375					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|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|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)					GCAGCTGGGGGCCCCCTCCCC	0.657									Hepatic Adenoma, Familial Clustering of				-	121434361	C	-	121434361	7	5	274	1	0	1	0	1	0	0	0	0	7251	726	26	0	1147	0	HNF1A	12	121434361	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	7530	121434361	12417534	1135	140441											
P2RX7	5027	broad.mit.edu	37	chr12	121603953	121603953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgactaggagacatcttccGagaaacaggcgataattttt	9	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:121603953G>A	uc001tzm.2	+	7	803	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	P2RX7_uc001tzn.2_Missense_Mutation_p.R146Q|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_5'UTR|P2RX7_uc001tzq.2_Missense_Mutation_p.R66Q	NM_002562	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X7	236						integral to membrane	ATP binding|ion channel activity|receptor activity			large_intestine(2)|lung(1)|breast(1)|skin(1)	5	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACATCTTCCGAGAAACAGGC	0.468													A	121603953	G	A	121603953	3	1	274	1	0	0	0	0	1	0	0	0	11345	1058	37	1	733	1	P2RX7	12	121603953	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	169592	121603953	12247942	1136	140442											
B3GNT4	79369	broad.mit.edu	37	chr12	122691422	122691422	+	Frame_Shift_Del	DEL	C	C	-													cgctgggtggtggctgcctgCccccaggcccatttcatgct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:122691421_122691421GC>G	uc001ubx.3	+	2	841	c.623_623GC>G	c.(622-624)tgcfs	p.C208fs	B3GNT4_uc001uby.3_Frame_Shift_Del_p.C183fs	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	208					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)		GTGGCTGCCTGCCCCCAGGCC	0.577													-	122691422	C	-	122691422	7	5	274	1	0	1	0	1	0	0	0	0	1259	747	26	0	630	0	B3GNT4	12	122691422	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1087469	122691422	11160473	1137	140443											
CLIP1	6249	broad.mit.edu	37	chr12	122845618	122845618	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cggacgtggtcgccatcactCgcctcactgcgttggccttg	12	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:122845618C>G	uc001ucg.1	-	4	999	c.893G>C	c.(892-894)CGA>CCA	p.R298P	CLIP1_uc001uch.1_Missense_Mutation_p.R298P|CLIP1_uc001uci.1_Missense_Mutation_p.R298P|CLIP1_uc001ucj.1_5'UTR|CLIP1_uc010tae.1_Missense_Mutation_p.R298P	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	298					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	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)		CGCCATCACTCGCCTCACTGC	0.582													G	122845618	C	G	122845618	3	3	274	1	0	0	0	0	1	0	0	0	3532	884	31	5	3474	5	CLIP1	12	122845618	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	154196	122845618	11006277	1138	140444											
GPR109A	338442	broad.mit.edu	37	chr12	123187301	123187301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagatgctgaagctgctgCacaaatttgcaccgccattc	10	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:123187301C>T	uc001ucx.1	-	1	604	c.530G>A	c.(529-531)TGC>TAC	p.C177Y	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	177	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GAAGCTGCTGCACAAATTTGC	0.547													T	123187301	C	T	123187301	3	4	274	1	0	0	0	0	1	0	0	0	6625	710	25	2	565	2	GPR109A	12	123187301	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	341683	123187301	10664594	1139	140445											
VPS37B	79720	broad.mit.edu	37	chr12	123351956	123351956	+	Frame_Shift_Del	DEL	G	G	-													ctctggggcagggtagggaaGgggggcggtaggtgccagtt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:123351955_123351955AG>A	uc001udl.3	-	3	669	c.566_566CT>T	c.(565-567)cttfs	p.L189fs		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	189	Pro-rich.				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)		AGGGTAGGGAAGGGGGGCGGT	0.716													-	123351956	G	-	123351956	7	5	274	1	0	1	0	1	0	0	0	0	17203	1000	35	0	296	0	VPS37B	12	123351956	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	164655	123351956	10499939	1140	140446											
SBNO1	55206	broad.mit.edu	37	chr12	123794266	123794266	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctacttacctaagattcCcatatcatatcttccatttt	1	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:123794266C>A	uc010tap.1	-	25	3433	c.3433G>T	c.(3433-3435)GGA>TGA	p.G1145*	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Nonsense_Mutation_p.G1144*|SBNO1_uc010taq.1_Nonsense_Mutation_p.G96*|SBNO1_uc001ues.1_Nonsense_Mutation_p.G96*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1145							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTAAGATTCCCATATCATAT	0.403													A	123794266	C	A	123794266	4	1	274	1	0	0	0	0	0	1	0	0	13862	632	22	5	776	5	SBNO1	12	123794266	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	442310	123794266	10057629	1141	140447											
DNAH10	196385	broad.mit.edu	37	chr12	124265729	124265729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcatgaatcagacctgCcgcccatgcctggggaggca	13	13	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:124265729C>T	uc001uft.3	+	6	566	c.541C>T	c.(541-543)CCG>TCG	p.P181S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	181	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		ATCAGACCTGCCGCCCATGCC	0.428													T	124265729	C	T	124265729	3	4	274	1	0	0	0	0	1	0	0	0	4598	739	26	2	563	2	DNAH10	12	124265729	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	471463	124265729	9586166	1142	140448											
DNAH10	196385	broad.mit.edu	37	chr12	124395130	124395130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaatggaagctgtcAgcaaagccgggctggggatg	16	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:124395130A>G	uc001uft.3	+	58	9716	c.9691A>G	c.(9691-9693)AGC>GGC	p.S3231G		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3231	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		GGAAGCTGTCAGCAAAGCCGG	0.438													G	124395130	A	G	124395130	3	3	274	1	0	0	0	0	1	0	0	0	4598	188	7	3	9921	3	DNAH10	12	124395130	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	129401	124395130	9456765	1143	140449											
SFRS8	6433	broad.mit.edu	37	chr12	132283990	132283990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatggccaaagtcagagCgatgcttgcagcttccaaaa	9	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:132283990C>T	uc001uja.1	+	18	2953	c.2813C>T	c.(2812-2814)GCG>GTG	p.A938V	SFRS8_uc010tbn.1_Missense_Mutation_p.A990V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	938	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AAAGTCAGAGCGATGCTTGCA	0.592													T	132283990	C	T	132283990	3	4	274	1	0	0	0	0	1	0	0	0	14183	768	27	1	2883	1	SFRS8	12	132283990	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7888860	132283990	1567905	1144	140450											
EP400	57634	broad.mit.edu	37	chr12	132537749	132537749	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatctctccgtgcagagCgaatcgcaaaagagaaaaag	11	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:132537749C>T	uc001ujn.2	+	41	7488	c.7453C>T	c.(7453-7455)CGA>TGA	p.R2485*	EP400_uc001ujl.2_Nonsense_Mutation_p.R2484*|EP400_uc001ujm.2_Nonsense_Mutation_p.R2404*	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2521					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CCGTGCAGAGCGAATCGCAAA	0.517													T	132537749	C	T	132537749	4	4	274	1	0	0	0	0	0	1	0	0	5149	760	27	1	7612	1	EP400	12	132537749	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	253759	132537749	1314146	1145	140451											
POLE	5426	broad.mit.edu	37	chr12	133210909	133210909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccccatctctttcctccTcatcgtcctcattttcctgc	2	20	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:133210909T>C	uc001uks.1	-	43	5911	c.5867A>G	c.(5866-5868)GAG>GGG	p.E1956G	POLE_uc001ukq.1_Missense_Mutation_p.E166G|POLE_uc001ukr.1_Missense_Mutation_p.E760G|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1956					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		tctttcctcctcatcgtcctc	0.338								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					C	133210909	T	C	133210909	3	2	274	1	0	0	0	0	1	0	0	0	12196	1551	54	3	1021	3	POLE	12	133210909	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	673160	133210909	640986	1146	140452											
POLE	5426	broad.mit.edu	37	chr12	133220111	133220111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgaccacacacacacaGcccaggtgcaccagggcccg	9	16	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:133220111G>A	uc001uks.1	-	34	4370	c.4326C>T	c.(4324-4326)GGC>GGT	p.G1442G	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.G246G|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.G1415G	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1442					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		CACACACACAGCCCAGGTGCA	0.612								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133220111	G	A	133220111	2	1	274	1	0	0	0	0	0	0	0	1	12196	958	34	2		2	POLE	12	133220111	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	9202	133220111	631784	1147	140453											
GOLGA3	2802	broad.mit.edu	37	chr12	133372766	133372766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgctcctgctgcaaaGcctcaagctgctggtctcgc	11	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr12:133372766G>A	uc001ukz.1	-	11	2700	c.2141C>T	c.(2140-2142)GCT>GTT	p.A714V	GOLGA3_uc001ula.1_Missense_Mutation_p.A714V|GOLGA3_uc001ulb.2_Missense_Mutation_p.A714V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	714	Gln-rich.|Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		CTGCTGCAAAGCCTCAAGCTG	0.582													A	133372766	G	A	133372766	3	1	274	1	0	0	0	0	1	0	0	0	6554	971	34	2	2549	2	GOLGA3	12	133372766	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	152655	133372766	479129	1148	140454											
GJB2	2706	broad.mit.edu	37	chr13	20763535	20763535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagtgatcgtagcacacGttcttgcagcctggctgcag	12	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:20763535G>A	uc001umy.2	-	2	401	c.186C>T	c.(184-186)AAC>AAT	p.N62N		NM_004004	NP_003995	P29033	CXB2_HUMAN	gap junction protein beta 2	62	Extracellular (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane					0		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CGTAGCACACGTTCTTGCAGC	0.572									Keratitis_Ichthyosis_and_Deafness_syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	20763535	G	A	20763535	2	1	274	1	0	0	0	0	0	0	0	1	6408	1136	40	1		1	GJB2	13	20763535	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		20763535	94406343	1149	140455											
SACS	26278	broad.mit.edu	37	chr13	23942607	23942607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatcaacaagtggtggCgttgtctgaccaaatcgacc	10	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:23942607C>T	uc001uon.2	-	5	868	c.279G>A	c.(277-279)ACG>ACA	p.T93T	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	93					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CAAGTGGTGGCGTTGTCTGAC	0.393													T	23942607	C	T	23942607	2	4	274	1	0	0	0	0	0	0	0	1	13804	755	27	1		1	SACS	13	23942607	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3179072	23942607	91227271	1150	140456											
WASF3	10810	broad.mit.edu	37	chr13	27250695	27250695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacatcaggagcaaaagCgtatagatggcaccacccgt	11	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:27250695C>T	uc001uqv.2	+	7	775	c.550C>T	c.(550-552)CGT>TGT	p.R184C	WASF3_uc001uqw.2_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	184	Potential.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	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)		GGAGCAAAAGCGTATAGATGG	0.473													T	27250695	C	T	27250695	3	4	274	1	0	0	0	0	1	0	0	0	17251	768	27	1	568	1	WASF3	13	27250695	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3308088	27250695	87919183	1151	140457											
WASF3	10810	broad.mit.edu	37	chr13	27255387	27255388	+	Frame_Shift_Ins	INS	-	-	C													caacagacctcagcagccgcINScccccccgcctccccctcag					rs141429361		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:27255386_27255387G>GC	uc001uqv.3	+	7	1137_1138	c.912_913G>GC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678													C	27255388	-	C	27255387	7	5	274	1	0	1	1	0	0	0	0	0	17251	739	26	0	935	0	WASF3	13	27255387	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	4692	27255387	87914491	1152	140458											
FLT1	2321	broad.mit.edu	37	chr13	28880898	28880898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacagagtgctgctgtcGccctggtagtcctaggggga	15	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:28880898G>A	uc001usb.3	-	29	4017	c.3732C>T	c.(3730-3732)GGC>GGT	p.G1244G	FLT1_uc010aap.2_Silent_p.G249G|FLT1_uc010aaq.2_Silent_p.G369G|FLT1_uc001usa.3_Silent_p.G462G	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1244	Cytoplasmic (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	TGCTGCTGTCGCCCTGGTAGT	0.552													A	28880898	G	A	28880898	2	1	274	1	0	0	0	0	0	0	0	1	5941	1074	38	1		1	FLT1	13	28880898	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1625511	28880898	86288980	1153	140459											
BRCA2	675	broad.mit.edu	37	chr13	32930746	32930746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgttctcataaacaGgtatgtgtttgtctacaata	8	7	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:32930746G>T	uc001uub.1	+	15	7844	c.7617G>T	c.(7615-7617)CAG>CAT	p.Q2539H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2539	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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		CTCATAAACAGGTATGTGTTT	0.393			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			T	32930746	G	T	32930746	3	4	274	1	0	0	0	0	1	0	0	0	1499	1014	35	5	7671	5	BRCA2	13	32930746	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4049848	32930746	82239132	1154	140460											
PDS5B	23047	broad.mit.edu	37	chr13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-													gctttacatcttgcttcagaTttttttctcaagcatcctga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:33226029_33226029AT>A	uc010abf.3	+	2	383	c.197_197AT>A	c.(196-198)gatfs	p.D66fs	PDS5B_uc001uun.3_Frame_Shift_Del_p.D66fs|PDS5B_uc001uuo.3_Frame_Shift_Del_p.D66fs|PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	66					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)		CTTGCTTCAGATTTTTTTCTC	0.378													-	33226030	T	-	33226030	7	5	274	1	0	1	0	1	0	0	0	0	11692	1490	52	0	204	0	PDS5B	13	33226030	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	295284	33226030	81943848	1155	140461											
KL	9365	broad.mit.edu	37	chr13	33591332	33591332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggctacgccaccgggCgcctggcccccggcatccgg	15	19	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:33591332C>T	uc001uus.2	+	1	762	c.754C>T	c.(754-756)CGC>TGC	p.R252C	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	252	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|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			large_intestine(1)|ovary(1)|skin(1)	3	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)		CGCCACCGGGCGCCTGGCCCC	0.706													T	33591332	C	T	33591332	3	4	274	1	0	0	0	0	1	0	0	0	8331	768	27	1	756	1	KL	13	33591332	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	365302	33591332	81578546	1156	140462											
RFC3	5983	broad.mit.edu	37	chr13	34404130	34404130	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaggtgcttggcggttcgTgtgcctgctcccagcattga	14	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:34404130T>G	uc001uuz.2	+	5	659	c.549T>G	c.(547-549)CGT>CGG	p.R183R	RFC3_uc001uva.2_Silent_p.R183R|RFC3_uc010ted.1_Silent_p.R183R	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	183					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				0		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)		TGGCGGTTCGTGTGCCTGCTC	0.393													G	34404130	T	G	34404130	2	3	274	1	0	0	0	0	0	0	0	1	13246	1683	59	5		5	RFC3	13	34404130	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	812798	34404130	80765748	1157	140463											
POSTN	10631	broad.mit.edu	37	chr13	38153466	38153466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggtgtcaggtgataaAgaatgatgttttgaagagca	12	5	1	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:38153466A>C	uc001uwo.3	-	13	1809	c.1691T>G	c.(1690-1692)CTT>CGT	p.L564R	POSTN_uc010tet.1_Missense_Mutation_p.L92R|POSTN_uc001uwp.3_Missense_Mutation_p.L564R|POSTN_uc001uwr.2_Missense_Mutation_p.L564R|POSTN_uc001uwq.2_Missense_Mutation_p.L564R|POSTN_uc010teu.1_Missense_Mutation_p.L564R|POSTN_uc010tev.1_Missense_Mutation_p.L564R|POSTN_uc010tew.1_Missense_Mutation_p.L564R|POSTN_uc010tex.1_Missense_Mutation_p.L479R	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	564	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		CAGGTGATAAAGAATGATGTT	0.318													C	38153466	A	C	38153466	3	2	274	1	0	0	0	0	1	0	0	0	12259	72	3	5	863	5	POSTN	13	38153466	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	3749336	38153466	77016412	1158	140464											
POSTN	10631	broad.mit.edu	37	chr13	38160332	38160332	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggacacctcgtggaagtttcTcaaaagcctcattggtggga	12	9	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:38160332T>A	uc001uwo.3	-	7	957	c.839A>T	c.(838-840)GAG>GTG	p.E280V	POSTN_uc001uwp.3_Missense_Mutation_p.E280V|POSTN_uc001uwr.2_Missense_Mutation_p.E280V|POSTN_uc001uwq.2_Missense_Mutation_p.E280V|POSTN_uc010teu.1_Missense_Mutation_p.E280V|POSTN_uc010tev.1_Missense_Mutation_p.E280V|POSTN_uc010tew.1_Missense_Mutation_p.E280V|POSTN_uc010tex.1_Missense_Mutation_p.E195V	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	280	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		TGGAAGTTTCTCAAAAGCCTC	0.478													A	38160332	T	A	38160332	3	1	274	1	0	0	0	0	1	0	0	0	12259	1551	54	5	1739	5	POSTN	13	38160332	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	6866	38160332	77009546	1159	140465											
TRPC4	7223	broad.mit.edu	37	chr13	38211353	38211353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtggtcctgcagcctgtTgacgagcaacttcttctgaa	10	11	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:38211353T>C	uc001uws.2	-	11	2856	c.2621A>G	c.(2620-2622)CAA>CGA	p.Q874R	TRPC4_uc010abv.2_Missense_Mutation_p.Q454R|TRPC4_uc001uwt.2_Missense_Mutation_p.Q790R|TRPC4_uc010tey.1_Missense_Mutation_p.Q733R|TRPC4_uc010abw.2_Missense_Mutation_p.Q701R|TRPC4_uc010abx.2_Missense_Mutation_p.Q879R|TRPC4_uc010aby.2_Missense_Mutation_p.Q725R	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	874	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				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			ovary(3)|skin(2)|breast(1)	6				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)		TGCAGCCTGTTGACGAGCAAC	0.428													C	38211353	T	C	38211353	3	2	274	1	0	0	0	0	1	0	0	0	16577	1812	63	3	316	3	TRPC4	13	38211353	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	51021	38211353	76958525	1160	140466											
FREM2	341640	broad.mit.edu	37	chr13	39263279	39263279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctctgctgctttttgtgCtggagtcacccttcttaact	7	11	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:39263279C>A	uc001uwv.2	+	1	2107	c.1798C>A	c.(1798-1800)CTG>ATG	p.L600M		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	600	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		GCTTTTTGTGCTGGAGTCACC	0.552													A	39263279	C	A	39263279	3	1	274	1	0	0	0	0	1	0	0	0	6045	796	28	5	1800	5	FREM2	13	39263279	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1051926	39263279	75906599	1161	140467											
FREM2	341640	broad.mit.edu	37	chr13	39425965	39425965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtccacaccaaggatggCtcggccacctctggagaaga	12	12	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:39425965C>T	uc001uwv.2	+	11	7194	c.6885C>T	c.(6883-6885)GGC>GGT	p.G2295G	FREM2_uc001uww.2_Silent_p.G381G	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2295	Extracellular (Potential).|Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		CCAAGGATGGCTCGGCCACCT	0.522													T	39425965	C	T	39425965	2	4	274	1	0	0	0	0	0	0	0	1	6045	784	28	2		2	FREM2	13	39425965	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	162686	39425965	75743913	1162	140468											
FOXO1	2308	broad.mit.edu	37	chr13	41134405	41134405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaactggtgtttggtggcGcaaacgagtagcacggcgtc	14	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:41134405G>A	uc001uxl.3	-	2	1608	c.1223C>T	c.(1222-1224)GCG>GTG	p.A408V	FOXO1_uc010acc.1_Missense_Mutation_p.A223V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	408					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTTGGTGGCGCAAACGAGTA	0.478													A	41134405	G	A	41134405	3	1	274	1	0	0	0	0	1	0	0	0	6023	1087	38	1	748	1	FOXO1	13	41134405	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1708440	41134405	74035473	1163	140469											
AKAP11	11215	broad.mit.edu	37	chr13	42873547	42873547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgatgctgcttcccagaCggttactggtcatcatttag	11	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:42873547C>T	uc001uys.1	+	8	840	c.665C>T	c.(664-666)ACG>ATG	p.T222M		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	222					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		GCTTCCCAGACGGTTACTGGT	0.388													T	42873547	C	T	42873547	3	4	274	1	0	0	0	0	1	0	0	0	447	536	19	1	687	1	AKAP11	13	42873547	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1739142	42873547	72296331	1164	140470											
AKAP11	11215	broad.mit.edu	37	chr13	42882736	42882736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcagttttcatcatcTaagtgaaaggtaactacact	7	8	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:42882736T>C	uc001uys.1	+	9	5439	c.5264T>C	c.(5263-5265)CTA>CCA	p.L1755P		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1755	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		TTTCATCATCTAAGTGAAAGG	0.328													C	42882736	T	C	42882736	3	2	274	1	0	0	0	0	1	0	0	0	447	1522	53	3	5290	3	AKAP11	13	42882736	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	9189	42882736	72287142	1165	140471											
ZC3H13	23091	broad.mit.edu	37	chr13	46549790	46549790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctttttctctttccCgatcccgttcacgttccctc	3	18	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:46549790C>T	uc010tfw.1	-	11	2102	c.2096G>A	c.(2095-2097)CGG>CAG	p.R699Q	ZC3H13_uc001vas.1_Missense_Mutation_p.R699Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R699Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	699	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		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)		ttctctttcccgatcccgttc	0.144													T	46549790	C	T	46549790	3	4	274	1	0	0	0	0	1	0	0	0	17562	652	23	1	2622	1	ZC3H13	13	46549790	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3667054	46549790	68620088	1166	140472											
ARL11	115761	broad.mit.edu	37	chr13	50204971	50204971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaggaggcacctgatgcaCttccgctgcttaagatcaga	11	11	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:50204971C>G	uc001vdf.1	+	2	534	c.388C>G	c.(388-390)CTT>GTT	p.L130V		NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	130					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|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;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		ACCTGATGCACTTCCGCTGCT	0.617													G	50204971	C	G	50204971	3	3	274	1	0	0	0	0	1	0	0	0	927	565	20	5	390	5	ARL11	13	50204971	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3655181	50204971	64964907	1167	140473											
PCDH8	5100	broad.mit.edu	37	chr13	53420187	53420187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgaggctccgccgccCgccgccccgggccgctcttc	14	21	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:53420187C>T	uc001vhi.2	-	1	2588	c.2385G>A	c.(2383-2385)GCG>GCA	p.A795A	PCDH8_uc001vhj.2_Intron	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	795	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		CTccgccgcccgccgccccgg	0.632													T	53420187	C	T	53420187	2	4	274	1	0	0	0	0	0	0	0	1	11517	639	23	1		1	PCDH8	13	53420187	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3215216	53420187	61749691	1168	140474											
PCDH8	5100	broad.mit.edu	37	chr13	53420267	53420267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaggtggtggcgatggCgatgatggcggccagcagca	19	8	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:53420267C>T	uc001vhi.2	-	1	2508	c.2305G>A	c.(2305-2307)GCC>ACC	p.A769T	PCDH8_uc001vhj.2_Missense_Mutation_p.A769T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	769	Helical; (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		GTGGCGATGGCGATGATGGCG	0.607													T	53420267	C	T	53420267	3	4	274	1	0	0	0	0	1	0	0	0	11517	768	27	1	919	1	PCDH8	13	53420267	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	80	53420267	61749611	1169	140475											
PCDH9	5101	broad.mit.edu	37	chr13	67801805	67801805	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggaatatgcacctccacTtgaccctctttaaacactgg	6	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:67801805T>C	uc001vik.2	-	2	1460	c.768A>G	c.(766-768)CAA>CAG	p.Q256Q	PCDH9_uc001vil.2_Silent_p.Q256Q|PCDH9_uc010thl.1_Silent_p.Q256Q|PCDH9_uc001vin.3_Silent_p.Q256Q	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	256	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCACCTCCACTTGACCCTCTT	0.473													C	67801805	T	C	67801805	2	2	274	1	0	0	0	0	0	0	0	1	11518	1606	56	3		3	PCDH9	13	67801805	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	14381538	67801805	47368073	1170	140476											
DACH1	1602	broad.mit.edu	37	chr13	72255949	72255949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggtggaattatcccaggAgacatgagaccagggacaga	14	7	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:72255949A>G	uc010thn.1	-	3	1365	c.942T>C	c.(940-942)TCT>TCC	p.S314S	DACH1_uc010tho.1_Silent_p.S314S|DACH1_uc010thp.1_Silent_p.S314S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	314	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			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTATCCCAGGAGACATGAGAC	0.443													G	72255949	A	G	72255949	2	3	274	1	0	0	0	0	0	0	0	1	4220	291	11	3		3	DACH1	13	72255949	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4454144	72255949	42913929	1171	140477											
MYCBP2	23077	broad.mit.edu	37	chr13	77656029	77656029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaactctcttcactatcGccatcatctgactttgacaa	3	13	4	2	rs138813052	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:77656029G>A	uc001vkf.2	-	65	11113	c.11022C>T	c.(11020-11022)GGC>GGT	p.G3674G	MYCBP2_uc010aev.2_Silent_p.G3078G|MYCBP2_uc001vke.2_Silent_p.G294G	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTCACTATCGCCATCATCTG	0.393													A	77656029	G	A	77656029	2	1	274	1	0	0	0	0	0	0	0	1	10018	1074	38	1		1	MYCBP2	13	77656029	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5400080	77656029	37513849	1172	140478											
MYCBP2	23077	broad.mit.edu	37	chr13	77724964	77724964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccagccctccataagtcaTgtcagtattagaagatgcag	9	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:77724964T>C	uc001vkf.2	-	48	7013	c.6922A>G	c.(6922-6924)ATG>GTG	p.M2308V	MYCBP2_uc010aev.2_Missense_Mutation_p.M1712V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2308	Filamin.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATAAGTCATGTCAGTATTA	0.388													C	77724964	T	C	77724964	3	2	274	1	0	0	0	0	1	0	0	0	10018	1464	51	3	7148	3	MYCBP2	13	77724964	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	68935	77724964	37444914	1173	140479											
SLAIN1	122060	broad.mit.edu	37	chr13	78337291	78337291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttttagttttcttcagcCtccaaagcctctgtcttcac	4	13	6	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:78337291C>A	uc010thy.1	+	7	1260	c.1217C>A	c.(1216-1218)CCT>CAT	p.P406H	SLAIN1_uc001vkk.1_Missense_Mutation_p.P329H|SLAIN1_uc001vkl.1_Missense_Mutation_p.P285H|SLAIN1_uc010thz.1_Missense_Mutation_p.P284H|SLAIN1_uc010aex.1_Missense_Mutation_p.P171H|SLAIN1_uc010aey.1_Missense_Mutation_p.P171H|SLAIN1_uc001vkm.2_Missense_Mutation_p.P285H	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	548										ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TTTCTTCAGCCTCCAAAGCCT	0.398													A	78337291	C	A	78337291	3	1	274	1	0	0	0	0	1	0	0	0	14365	681	24	5	1008	5	SLAIN1	13	78337291	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	612327	78337291	36832587	1174	140480											
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-													ttcacaggtcattagtgtatAaaaaaatgcagtgatggcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:78475266_78475266TA>T	uc001vkp.1	-	4	1301	c.1148_1148TA>A	c.(1147-1149)tatfs	p.Y383fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Y293fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	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.N382I(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)	CATTAGTGTATAAAAAAATGC	0.338													-	78475267	A	-	78475267	7	5	274	1	0	1	0	1	0	0	0	0	4920	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	137976	78475267	36694611	1175	140481											
POU4F1	5457	broad.mit.edu	37	chr13	79175910	79175910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctgagtgagcccacGcccgggatcttgaggttggc	15	12	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:79175910G>A	uc001vkv.2	-	2	1134	c.900C>T	c.(898-900)GGC>GGT	p.G300G	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	300	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GTGAGCCCACGCCCGGGATCT	0.662													A	79175910	G	A	79175910	2	1	274	1	0	0	0	0	0	0	0	1	12278	1074	38	1		1	POU4F1	13	79175910	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	700643	79175910	35993968	1176	140482											
RNF219	79596	broad.mit.edu	37	chr13	79190057	79190057	+	Frame_Shift_Del	DEL	A	A	-													tggtcagatggagagaggagAaaaaaagaagtgggtttcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:79190056_79190056GA>G	uc001vkw.1	-	5	1899	c.1840_1840TC>C	c.(1840-1842)ctcfs	p.L614fs	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Frame_Shift_Del_p.L424fs	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	614	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGAGAGAGGAGAAAAAAAGAA	0.368													-	79190057	A	-	79190057	7	5	274	1	0	1	0	1	0	0	0	0	13482	243	9	0	345	0	RNF219	13	79190057	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	14147	79190057	35979821	1177	140483											
MBNL2	10150	broad.mit.edu	37	chr13	97995269	97995269	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttgtcttcctttaacaGcccactttccctgtaggtcc	7	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:97995269G>A	uc010aft.2	+	4	1156	c.340_splice	c.e4-1	p.P114_splice	MBNL2_uc001vmz.2_Splice_Site_p.P114_splice|MBNL2_uc001vna.2_Splice_Site_p.P114_splice|MBNL2_uc001vnb.2_Splice_Site|MBNL2_uc010tij.1_Intron	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1						mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TCCTTTAACAGCCCACTTTCC	0.418													A	97995269	G	A	97995269	5	1	274	1	0	0	0	0	0	0	1	0	9354	985	34	2	349	2	MBNL2	13	97995269	Splice_Site	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	18805212	97995269	17174609	1178	140484											
RNF113B	140432	broad.mit.edu	37	chr13	98829459	98829459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctggtctgcttggtcgGccgtccttcctggagaaggt	13	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:98829459G>A	uc001vnk.2	-	1	63	c.32C>T	c.(31-33)GCC>GTC	p.A11V	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	11							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCTTGGTCGGCCGTCCTTCC	0.542													A	98829459	G	A	98829459	3	1	274	1	0	0	0	0	1	0	0	0	13428	1203	42	2	944	2	RNF113B	13	98829459	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	834190	98829459	16340419	1179	140485											
FARP1	10160	broad.mit.edu	37	chr13	99061770	99061770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggacgatgaggatgagggCcggaggaaggtacagggccg	20	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:99061770C>T	uc001vnj.2	+	14	1929	c.1593C>T	c.(1591-1593)GGC>GGT	p.G531G	FARP1_uc001vnh.2_Silent_p.G531G	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	531					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGATGAGGGCCGGAGGAAGG	0.532													T	99061770	C	T	99061770	2	4	274	1	0	0	0	0	0	0	0	1	5676	726	26	2		2	FARP1	13	99061770	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	232311	99061770	16108108	1180	140486											
SLC15A1	6564	broad.mit.edu	37	chr13	99337102	99337102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgatgtaagtatagaacCgagccatgatggcaaaaatt	11	5	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:99337102C>T	uc001vno.2	-	23	2080	c.2003G>A	c.(2002-2004)CGG>CAG	p.R668Q		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	668	Cytoplasmic (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AGTATAGAACCGAGCCATGAT	0.433													T	99337102	C	T	99337102	3	4	274	1	0	0	0	0	1	0	0	0	14398	652	23	1	127	1	SLC15A1	13	99337102	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	275332	99337102	15832776	1181	140487											
TMTC4	84899	broad.mit.edu	37	chr13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccccgcgcttaccagacGcccgaggttgtagtaacagt	11	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:101277794G>A	uc001vou.2	-	14	1934	c.1774C>T	c.(1774-1776)CGT>TGT	p.R592C	TMTC4_uc001vot.2_Missense_Mutation_p.R611C|TMTC4_uc010tja.1_Missense_Mutation_p.R481C|TMTC4_uc001vov.1_Missense_Mutation_p.R337C|TMTC4_uc001vow.1_Missense_Mutation_p.R375C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	592	TPR 5.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458													A	101277794	G	A	101277794	3	1	274	1	0	0	0	0	1	0	0	0	16260	1087	38	1	471	1	TMTC4	13	101277794	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1940692	101277794	13892084	1182	140488											
ITGBL1	9358	broad.mit.edu	37	chr13	102106322	102106322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccccgggggccgcgctgTgccacggccggggccgctgc	18	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:102106322T>C	uc001vpb.2	+	2	406	c.187T>C	c.(187-189)TGC>CGC	p.C63R	ITGBL1_uc010agb.2_Missense_Mutation_p.C63R|ITGBL1_uc001vpc.3_Intron	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	63	I.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCCGCGCTGTGCCACGGCCG	0.756													C	102106322	T	C	102106322	3	2	274	1	0	0	0	0	1	0	0	0	7902	1696	59	3	193	3	ITGBL1	13	102106322	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	828528	102106322	13063556	1183	140489											
ITGBL1	9358	broad.mit.edu	37	chr13	102227785	102227785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggtttaggtacatgtcaCtgtggcaggtgtaagtgtga	14	5	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:102227785C>A	uc001vpb.2	+	4	693	c.474C>A	c.(472-474)CAC>CAA	p.H158Q	ITGBL1_uc010agb.2_Missense_Mutation_p.H109Q|ITGBL1_uc001vpc.3_Missense_Mutation_p.H17Q	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	158	III.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACATGTCACTGTGGCAGGT	0.338													A	102227785	C	A	102227785	3	1	274	1	0	0	0	0	1	0	0	0	7902	564	20	5	488	5	ITGBL1	13	102227785	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	121463	102227785	12942093	1184	140490											
FGF14	2259	broad.mit.edu	37	chr13	102568842	102568842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgaggccgaagatgcGcactttggagaagatatcca	11	9	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:102568842G>A	uc001vpe.2	-	1	154	c.154C>T	c.(154-156)CGC>TGC	p.R52C	FGF14_uc001vpf.2_Intron	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	52					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCGAAGATGCGCACTTTGGAG	0.672													A	102568842	G	A	102568842	3	1	274	1	0	0	0	0	1	0	0	0	5843	1087	38	1	609	1	FGF14	13	102568842	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	341057	102568842	12601036	1185	140491											
KDELC1	79070	broad.mit.edu	37	chr13	103443739	103443739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttttccaaaggccaGtctcccaaattaacaaagag	5	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:103443739G>A	uc001vpq.3	-	5	1098	c.714C>T	c.(712-714)GAC>GAT	p.D238D	KDELC1_uc001vpr.3_Silent_p.D19D	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	238						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCAAAGGCCAGTCTCCCAAAT	0.403													A	103443739	G	A	103443739	2	1	274	1	0	0	0	0	0	0	0	1	8117	1020	36	4		4	KDELC1	13	103443739	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	874897	103443739	11726139	1186	140492											
MYO16	23026	broad.mit.edu	37	chr13	109779804	109779804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccacggaaacagcccccGcccaagccaaagagggaccc	9	18	1	1	rs151007439		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:109779804G>A	uc001vqt.1	+	31	4017	c.3891G>A	c.(3889-3891)CCG>CCA	p.P1297P	MYO16_uc010agk.1_Silent_p.P1319P|MYO16_uc010tjh.1_Silent_p.P809P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1297					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			AACAGCCCCCGCCCAAGCCAA	0.652													A	109779804	G	A	109779804	2	1	274	1	0	0	0	0	0	0	0	1	10064	1074	38	1		1	MYO16	13	109779804	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6336065	109779804	5390074	1187	140493											
MCF2L	23263	broad.mit.edu	37	chr13	113731454	113731454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagaagctggcggccaGgcagacgcggcccgtgcagc	16	14	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:113731454G>T	uc001vsu.2	+	13	1782	c.1760G>T	c.(1759-1761)AGG>ATG	p.R587M	MCF2L_uc001vsq.2_Missense_Mutation_p.R587M|MCF2L_uc010tjr.1_Missense_Mutation_p.R530M|MCF2L_uc001vsr.2_Missense_Mutation_p.R534M|MCF2L_uc001vss.3_Missense_Mutation_p.R528M|MCF2L_uc010tjs.1_Missense_Mutation_p.R528M|MCF2L_uc001vst.1_Missense_Mutation_p.R492M	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	560					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			ovary(1)|kidney(1)	2	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)				CTGGCGGCCAGGCAGACGCGG	0.692													T	113731454	G	T	113731454	3	4	274	1	0	0	0	0	1	0	0	0	9379	1000	35	5	1905	5	MCF2L	13	113731454	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3951650	113731454	1438424	1188	140494											
F10	2159	broad.mit.edu	37	chr13	113783775	113783775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccttccagtgttcatccGcagggagcaggccaacaaca	10	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:113783775G>A	uc001vsx.2	+	2	137	c.80G>A	c.(79-81)CGC>CAC	p.R27H	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.R27H|F10_uc001vsz.2_Missense_Mutation_p.R27H	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	27					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			pancreas(1)	1	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)	GTGTTCATCCGCAGGGAGCAG	0.567													A	113783775	G	A	113783775	3	1	274	1	0	0	0	0	1	0	0	0	5336	1087	38	1	86	1	F10	13	113783775	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	52321	113783775	1386103	1189	140495											
RASA3	22821	broad.mit.edu	37	chr13	114781736	114781736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatttcacagggtttgtgGctctggcatatctggggaga	14	7	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr13:114781736G>A	uc001vui.2	-	13	1349	c.1218C>T	c.(1216-1218)AGC>AGT	p.S406S	RASA3_uc010tkk.1_Silent_p.S374S|RASA3_uc001vuj.2_Silent_p.S23S	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	406	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			lung(3)|skin(1)	4	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)			AGGGTTTGTGGCTCTGGCATA	0.527													A	114781736	G	A	114781736	2	1	274	1	0	0	0	0	0	0	0	1	13062	1194	42	2		2	RASA3	13	114781736	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	997961	114781736	388142	1190	140496											
OR4Q3	441669	broad.mit.edu	37	chr14	20215646	20215646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggcctatcatcttcTtgggagctgcagctatttct	9	11	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20215646T>C	uc010tkt.1	+	1	60	c.60T>C	c.(58-60)TCT>TCC	p.S20S		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCATCTTCTTGGGAGCTGC	0.368													C	20215646	T	C	20215646	2	2	274	1	0	0	0	0	0	0	0	1	11081	1596	56	3		3	OR4Q3	14	20215646	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08		20215646	87133894	1191	140497											
OR4N2	390429	broad.mit.edu	37	chr14	20295916	20295916	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatcactcagctctttttCttgcacttccttggaggagg	9	11	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20295916C>T	uc010tkv.1	+	1	309	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTCTTTTTCTTGCACTTCC	0.517													T	20295916	C	T	20295916	2	4	274	1	0	0	0	0	0	0	0	1	11077	912	32	4		4	OR4N2	14	20295916	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	80270	20295916	87053624	1192	140498											
OR4K5	79317	broad.mit.edu	37	chr14	20389294	20389295	+	Frame_Shift_Ins	INS	-	-	T													acctaatgtagtagacagctINSttttttgtgatcttcctcga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20389293_20389294C>CT	uc010tkw.2	+	0	528_529	c.528_529C>CT	c.(526-531)agctttfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					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)		TAGTAGACAGCTTTTTTTGTGA	0.421													T	20389295	-	T	20389294	7	5	274	1	0	1	1	0	0	0	0	0	11073	1609	56	0	531	0	OR4K5	14	20389294	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	93378	20389294	86960246	1193	140499											
PARP2	10038	broad.mit.edu	37	chr14	20824490	20824490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccagtacctacaatctAcccatgctcccacacacagc	3	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:20824490A>G	uc001vxc.2	+	12	1193	c.1165A>G	c.(1165-1167)ACC>GCC	p.T389A	PARP2_uc001vxd.2_Missense_Mutation_p.T376A|PARP2_uc001vxb.1_Missense_Mutation_p.T389A|PARP2_uc010tle.1_Missense_Mutation_p.T139A	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	389	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	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)		CCTACAATCTACCCATGCTCC	0.438								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					G	20824490	A	G	20824490	3	3	274	1	0	0	0	0	1	0	0	0	11461	391	14	3	1211	3	PARP2	14	20824490	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	435196	20824490	86525050	1194	140500											
RNASE11	122651	broad.mit.edu	37	chr14	21052507	21052507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggtctgtttttcttggcCactttttgccatgtcatatt	7	8	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:21052507C>A	uc010ahv.2	-	2	312	c.127G>T	c.(127-129)GGC>TGC	p.G43C	RNASE11_uc010ahx.2_Missense_Mutation_p.G43C|RNASE11_uc010ahw.2_Missense_Mutation_p.G43C|RNASE11_uc001vxs.2_Missense_Mutation_p.G43C	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	43						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(3)	3	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TTTTCTTGGCCACTTTTTGCC	0.398													A	21052507	C	A	21052507	3	1	274	1	0	0	0	0	1	0	0	0	13401	594	21	5	476	5	RNASE11	14	21052507	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	228017	21052507	86297033	1195	140501											
REM2	161253	broad.mit.edu	37	chr14	23355275	23355275	+	Frame_Shift_Del	DEL	G	G	-													gggaccactgccttcagaccGgggacgcctttctcatcgtc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:23355274_23355274CG>C	uc001whf.1	+	3	626	c.561_561CG>C	c.(559-561)accfs	p.T187fs	REM2_uc010tnd.1_Frame_Shift_Del_p.R155fs	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	187					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	p.T177T(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GCCTTCAGACCGGGGACGCCT	0.622													-	23355275	G	-	23355275	7	5	274	1	0	1	0	1	0	0	0	0	13223	1116	39	0	576	0	REM2	14	23355275	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	2302768	23355275	83994265	1196	140502											
BCL2L2	599	broad.mit.edu	37	chr14	23778068	23778068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggggccctggaggaggCgcggcgtctgcgggagggga	24	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:23778068C>T	uc001wjg.3	+	4	664	c.476C>T	c.(475-477)GCG>GTG	p.A159V	PABPN1_uc001wjh.3_Intron|BCL2L2_uc001wji.3_Missense_Mutation_p.A159V	NM_004050	NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2 protein	159					anti-apoptosis|apoptosis|spermatogenesis	mitochondrial membrane	protein binding			central_nervous_system(1)	1	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGAGGAGGCGCGGCGTCTG	0.597													T	23778068	C	T	23778068	3	4	274	1	0	0	0	0	1	0	0	0	1374	768	27	1	482	1	BCL2L2	14	23778068	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	422793	23778068	83571472	1197	140503											
MYH6	4624	broad.mit.edu	37	chr14	23857097	23857097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactccagctcagactgCgactcctcatacttctgctt	8	14	3	1	rs74039310	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:23857097C>T	uc001wjv.2	-	31	4462	c.4395G>A	c.(4393-4395)TCG>TCA	p.S1465S		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1465	Potential.				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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCAGACTGCGACTCCTCAT	0.607													T	23857097	C	T	23857097	2	4	274	1	0	0	0	0	0	0	0	1	10038	755	27	1		1	MYH6	14	23857097	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	79029	23857097	83492443	1198	140504											
AP1G2	8906	broad.mit.edu	37	chr14	24031515	24031515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgttgtccccacagaggCgagtgctgagcttcatgagg	13	10	1	3	rs142884247	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24031515C>T	uc001wkl.2	-	16	1947	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H	AP1G2_uc001wkj.2_Missense_Mutation_p.R156H|AP1G2_uc001wkk.3_Missense_Mutation_p.R465H|AP1G2_uc001wkn.2_Missense_Mutation_p.R156H|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	537					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCCACAGAGGCGAGTGCTGAG	0.562											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	24031515	C	T	24031515	3	4	274	1	0	0	0	0	1	0	0	0	733	768	27	1	775	1	AP1G2	14	24031515	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	174418	24031515	83318025	1199	140505											
JPH4	84502	broad.mit.edu	37	chr14	24045186	24045186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgcgccgatctgcgcGccactcgcccgcgtacacct	11	20	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24045186G>A	uc001wkq.2	-	4	1777	c.859C>T	c.(859-861)CGC>TGC	p.R287C	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.R287C|JPH4_uc001wks.2_Missense_Mutation_p.R287C	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	287	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CGATCTGCGCGCCACTCGCCC	0.632													A	24045186	G	A	24045186	3	1	274	1	0	0	0	0	1	0	0	0	7963	1087	38	1	1043	1	JPH4	14	24045186	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	13671	24045186	83304354	1200	140506											
LRRC16B	90668	broad.mit.edu	37	chr14	24531964	24531964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcagatccaccagggtGcccaggccaagggcaggatc	14	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24531964G>A	uc001wlj.2	+	29	2772	c.2615G>A	c.(2614-2616)TGC>TAC	p.C872Y	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	872										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CCACCAGGGTGCCCAGGCCAA	0.627													A	24531964	G	A	24531964	3	1	274	1	0	0	0	0	1	0	0	0	8972	1319	46	2	2729	2	LRRC16B	14	24531964	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	486778	24531964	82817576	1201	140507											
RNF31	55072	broad.mit.edu	37	chr14	24626754	24626754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaatgcaagttctcgtaCgccctggcccgaggaggctg	12	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24626754C>T	uc001wmn.1	+	16	2883	c.2634C>T	c.(2632-2634)TAC>TAT	p.Y878Y	RNF31_uc001wml.1_Silent_p.Y727Y|RNF31_uc010alg.1_Silent_p.Y637Y|RNF31_uc001wmo.1_Silent_p.Y345Y|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Silent_p.Y62Y	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	878	IBR-type 2.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AGTTCTCGTACGCCCTGGCCC	0.582													T	24626754	C	T	24626754	2	4	274	1	0	0	0	0	0	0	0	1	13487	547	19	1		1	RNF31	14	24626754	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	94790	24626754	82722786	1202	140508											
IPO4	79711	broad.mit.edu	37	chr14	24655356	24655356	+	Frame_Shift_Del	DEL	G	G	-													agctggggacagagcttctcGgggggcaggtgtagtgccag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24655355_24655355CG>C	uc001wmv.1	-	10	2060	c.1039_1039CG>G	c.(1039-1041)gagfs	p.E347fs	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Frame_Shift_Del_p.E9fs|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Frame_Shift_Del_p.E211fs|IPO4_uc001wmy.1_Frame_Shift_Del_p.E211fs|IPO4_uc001wmz.2_Frame_Shift_Del_p.E347fs	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	347					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)		CAGAGCTTCTCGGGGGGCAGG	0.587													-	24655356	G	-	24655356	7	5	274	1	0	1	0	1	0	0	0	0	7795	1103	39	0	2287	0	IPO4	14	24655356	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	28602	24655356	82694184	1203	140509											
ADCY4	196883	broad.mit.edu	37	chr14	24798413	24798413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggacagcaagcctcctgCagtgcccttctcatcctcct	8	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:24798413C>T	uc001wov.2	-	10	1384	c.1378G>A	c.(1378-1380)GCA>ACA	p.A460T	ADCY4_uc001wow.2_Missense_Mutation_p.A460T|ADCY4_uc010toh.1_Missense_Mutation_p.A146T|ADCY4_uc001wox.2_Missense_Mutation_p.A460T|ADCY4_uc001woy.2_Missense_Mutation_p.A460T	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	460	Cytoplasmic (Potential).				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			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		AAGCCTCCTGCAGTGCCCTTC	0.602													T	24798413	C	T	24798413	3	4	274	1	0	0	0	0	1	0	0	0	296	710	25	2	1919	2	ADCY4	14	24798413	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	143057	24798413	82551127	1204	140510											
BAZ1A	11177	broad.mit.edu	37	chr14	35234330	35234330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgacatatcttgcaacgcGcattcagtatagatttagac	7	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:35234330G>A	uc001wsk.2	-	22	4014	c.3446C>T	c.(3445-3447)GCG>GTG	p.A1149V	BAZ1A_uc001wsl.2_Missense_Mutation_p.A1117V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1149	PHD-type.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		CTTGCAACGCGCATTCAGTAT	0.443													A	35234330	G	A	35234330	3	1	274	1	0	0	0	0	1	0	0	0	1329	1087	38	1	1248	1	BAZ1A	14	35234330	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	10435917	35234330	72115210	1205	140511											
PPP2R3C	55012	broad.mit.edu	37	chr14	35564389	35564389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcaagattcaagtactgGccttgggaagaaaaataata	8	5	2	2	rs61741202		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:35564389G>A	uc001wss.2	-	10	1194	c.840C>T	c.(838-840)GGC>GGT	p.G280G	PPP2R3C_uc001wst.2_Silent_p.G164G|PPP2R3C_uc010tpr.1_Silent_p.G164G|PPP2R3C_uc001wsu.2_Intron	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	serine/threonine-protein phosphatase 2A	280	EF-hand 1.					centrosome|nucleus	calcium ion binding			ovary(1)	1	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)		TCAAGTACTGGCCTTGGGAAG	0.333													A	35564389	G	A	35564389	2	1	274	1	0	0	0	0	0	0	0	1	12390	1217	42	2		2	PPP2R3C	14	35564389	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	330059	35564389	71785151	1206	140512											
RALGAPA1	253959	broad.mit.edu	37	chr14	36190894	36190894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattttcaagagtacatacCgacagttttttgccgtacta	7	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:36190894C>T	uc001wti.2	-	16	2657	c.2266G>A	c.(2266-2268)GAT>AAT	p.D756N	RALGAPA1_uc001wtj.2_Missense_Mutation_p.D756N|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D756N|RALGAPA1_uc010tpw.1_Missense_Mutation_p.A756T|RALGAPA1_uc001wtk.1_Missense_Mutation_p.A607T	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	756					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						GAGTACATACCGACAGTTTTT	0.408													T	36190894	C	T	36190894	3	4	274	1	0	0	0	0	1	0	0	0	13013	666	23	1	4097	1	RALGAPA1	14	36190894	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	626505	36190894	71158646	1207	140513											
NKX2-8	26257	broad.mit.edu	37	chr14	37051674	37051674	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgctcctacggatgggcGtgggaggcgctcgccatgcg	17	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:37051674G>A	uc001wtx.2	-	1	113	c.-79C>T	c.(-81--77)CACGC>CATGC			NM_014360	NP_055175	O15522	NKX28_HUMAN	NK2 homeobox 8						liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		ACGGATGGGCGTGGGAGGCGC	0.652													A	37051674	G	A	37051674	1	1	274	1	0	0	0	0	0	0	0	0	10454	1160	40	1		1	NKX2-8	14	37051674	Translation_Start_Site	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	860780	37051674	70297866	1208	140514											
PYGL	5836	broad.mit.edu	37	chr14	51376807	51376807	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctgctctgacagatcTgtggctggaatgactgcaag	12	8	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:51376807T>C	uc001wyu.2	-	17	2110	c.1983A>G	c.(1981-1983)ACA>ACG	p.T661T	PYGL_uc010tqq.1_Silent_p.T627T|PYGL_uc001wyv.2_Silent_p.T335T|PYGL_uc001wyt.2_5'Flank	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	661					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			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CTGACAGATCTGTGGCTGGAA	0.433													C	51376807	T	C	51376807	2	2	274	1	0	0	0	0	0	0	0	1	12861	1567	55	3		3	PYGL	14	51376807	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	14325133	51376807	55972733	1209	140515											
TBPL2	387332	broad.mit.edu	37	chr14	55895632	55895632	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatcgaggaatctggcaggGaacccaagcttctgcaccac	10	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:55895632G>A	uc001xby.2	-	5	849	c.849C>T	c.(847-849)TTC>TTT	p.F283F		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	283					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						ATCTGGCAGGGAACCCAAGCT	0.463													A	55895632	G	A	55895632	2	1	274	1	0	0	0	0	0	0	0	1	15643	1165	41	4		4	TBPL2	14	55895632	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4518825	55895632	51453908	1210	140516											
MUDENG	55745	broad.mit.edu	37	chr14	57741365	57741365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaaaattgagccagttgCctgacttgcttctgcaggct	9	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:57741365C>T	uc001xcv.2	+	2	905	c.478C>T	c.(478-480)CCT>TCT	p.P160S	MUDENG_uc001xcu.3_Missense_Mutation_p.P160S|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.P57S	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	160					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						GAGCCAGTTGCCTGACTTGCT	0.373													T	57741365	C	T	57741365	3	4	274	1	0	0	0	0	1	0	0	0	9983	739	26	2	484	2	MUDENG	14	57741365	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1845733	57741365	49608175	1211	140517											
ARID4A	5926	broad.mit.edu	37	chr14	58790255	58790255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaagatgaagacaagCgccgtctcaatgatgaatta	11	6	1	6			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:58790255C>T	uc001xdp.2	+	8	756	c.502C>T	c.(502-504)CGC>TGC	p.R168C	ARID4A_uc001xdo.2_Missense_Mutation_p.R168C|ARID4A_uc001xdq.2_Missense_Mutation_p.R168C	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	168					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						TGAAGACAAGCGCCGTCTCAA	0.368													T	58790255	C	T	58790255	3	4	274	1	0	0	0	0	1	0	0	0	919	768	27	1	528	1	ARID4A	14	58790255	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1048890	58790255	48559285	1212	140518											
SIX1	6495	broad.mit.edu	37	chr14	61115595	61115595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgatatttgcccacggCgcccaggggtcggccgcgca	13	17	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:61115595C>T	uc001xfb.3	-	1	561	c.313G>A	c.(313-315)GCC>ACC	p.A105T		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	105					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTGCCCACGGCGCCCAGGGGT	0.627													T	61115595	C	T	61115595	3	4	274	1	0	0	0	0	1	0	0	0	14346	768	27	1	549	1	SIX1	14	61115595	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2325340	61115595	46233945	1213	140519											
SYT16	83851	broad.mit.edu	37	chr14	62541932	62541932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatccctgctcactcacaGtccccatgtgaaagagggga	9	14	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:62541932G>T	uc001xfu.1	+	3	1013	c.816G>T	c.(814-816)CAG>CAT	p.Q272H	SYT16_uc010tsd.1_Missense_Mutation_p.Q272H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	272										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTCACTCACAGTCCCCATGTG	0.517													T	62541932	G	T	62541932	3	4	274	1	0	0	0	0	1	0	0	0	15469	1020	36	5	826	5	SYT16	14	62541932	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1426337	62541932	44807608	1214	140520											
GPHB5	122876	broad.mit.edu	37	chr14	63784472	63784472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcacagcccacaaaggtgCgcaggttcccactggaggca	13	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:63784472C>T	uc010apu.2	-	1	92	c.92G>A	c.(91-93)CGC>CAC	p.R31H	GPHB5_uc001xgc.2_Missense_Mutation_p.R21H	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	glycoprotein beta 5	31						extracellular region	hormone activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CACAAAGGTGCGCAGGTTCCC	0.617													T	63784472	C	T	63784472	3	4	274	1	0	0	0	0	1	0	0	0	6609	768	27	1	191	1	GPHB5	14	63784472	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1242540	63784472	43565068	1215	140521											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209760	65209760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggcccaggagcacaGccctcccaagccctcctcgg	11	18	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:65209760G>T	uc001xho.1	+	17	3268	c.2999G>T	c.(2998-3000)AGC>ATC	p.S1000I	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S944I|PLEKHG3_uc001xhp.2_Missense_Mutation_p.S1121I|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S542I|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S505I	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1000					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGAGCACAGCCCTCCCAAG	0.617													T	65209760	G	T	65209760	3	4	274	1	0	0	0	0	1	0	0	0	12070	971	34	5	2885	5	PLEKHG3	14	65209760	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1425288	65209760	42139780	1216	140522											
ADAM20	8748	broad.mit.edu	37	chr14	70989840	70989840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatatgttgtgcctacaatAccacagtgaccgaaacggtt	8	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:70989840A>G	uc001xme.2	-	2	2030	c.1785T>C	c.(1783-1785)GGT>GGC	p.G595G		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	545	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			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)		TGCCTACAATACCACAGTGAC	0.418													G	70989840	A	G	70989840	2	3	274	1	0	0	0	0	0	0	0	1	242	378	14	3		3	ADAM20	14	70989840	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	5780080	70989840	36359700	1217	140523											
HEATR4	399671	broad.mit.edu	37	chr14	73976119	73976119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcacatgggcattcttgtcAcaaagagcagcctctagggc	11	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:73976119A>C	uc010tub.1	-	8	1939	c.1617T>G	c.(1615-1617)TGT>TGG	p.C539W	HEATR4_uc010tua.1_Missense_Mutation_p.C492W	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATTCTTGTCACAAAGAGCAG	0.517													C	73976119	A	C	73976119	3	2	274	1	0	0	0	0	1	0	0	0	7030	157	6	5	1507	5	HEATR4	14	73976119	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2986279	73976119	33373421	1218	140524											
C14orf43	91748	broad.mit.edu	37	chr14	74206606	74206606	+	Frame_Shift_Del	DEL	G	G	-													cttcactctgatggactgctGggggggctgcaggggagggg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:74206605_74206605TG>T	uc010tud.1	-	0	354	c.107_107CA>A	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTG	0.667													-	74206606	G	-	74206606	7	5	274	1	0	1	0	1	0	0	0	0	1774	1357	47	0	3075	0	C14orf43	14	74206606	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	230487	74206606	33142934	1219	140525											
ISCA2	122961	broad.mit.edu	37	chr14	74961032	74961032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggctgcaagtggagggaGgtggatgctccggattccaa	16	8	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:74961032G>A	uc001xpz.2	+	3	257	c.229G>A	c.(229-231)GGT>AGT	p.G77S	NPC2_uc001xpy.2_5'Flank|NPC2_uc010tus.1_5'Flank	NM_194279	NP_919255	Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2 precursor	77					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGTGGAGGGAGGTGGATGCTC	0.522													A	74961032	G	A	74961032	3	1	274	1	0	0	0	0	1	0	0	0	7851	1000	35	4	239	4	ISCA2	14	74961032	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	754426	74961032	32388508	1220	140526											
BATF	10538	broad.mit.edu	37	chr14	76012964	76012964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgaggtggtgtacagcGcccacgcattccaccaacct	9	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:76012964G>A	uc001xrr.2	+	3	570	c.328G>A	c.(328-330)GCC>ACC	p.A110T		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	110						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		GGTGTACAGCGCCCACGCATT	0.662													A	76012964	G	A	76012964	3	1	274	1	0	0	0	0	1	0	0	0	1325	1087	38	1	338	1	BATF	14	76012964	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1051932	76012964	31336576	1221	140527											
TTLL5	23093	broad.mit.edu	37	chr14	76243106	76243106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggaaacagaacaaatggCtgaaaagaaatcaaagaaga	10	4	1	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:76243106C>A	uc001xrx.2	+	23	2505	c.2300C>A	c.(2299-2301)GCT>GAT	p.A767D	TTLL5_uc010ask.1_Missense_Mutation_p.A781D|TTLL5_uc001xrz.2_Missense_Mutation_p.A342D|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	767					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAACAAATGGCTGAAAAGAAA	0.378													A	76243106	C	A	76243106	3	1	274	1	0	0	0	0	1	0	0	0	16727	797	28	5	2386	5	TTLL5	14	76243106	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	230142	76243106	31106434	1222	140528											
VASH1	22846	broad.mit.edu	37	chr14	77245316	77245316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacaagaagacttccgaGcccaaagccatgccagacct	10	13	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:77245316G>T	uc001xst.2	+	7	1983	c.1053G>T	c.(1051-1053)GAG>GAT	p.E351D		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	351	Involved in heparin-binding and antiangiogenic activity.				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					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGACTTCCGAGCCCAAAGCCA	0.632													T	77245316	G	T	77245316	3	4	274	1	0	0	0	0	1	0	0	0	17122	962	34	5	1079	5	VASH1	14	77245316	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1002210	77245316	30104224	1223	140529											
C14orf166B	145497	broad.mit.edu	37	chr14	77302606	77302606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcatcatggaggagggCgtcttgagcctggtggagat	16	6	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:77302606C>T	uc001xsx.2	+	4	561	c.447C>T	c.(445-447)GGC>GGT	p.G149G	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	hypothetical protein LOC145497	149	LRR 1.										0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGGAGGAGGGCGTCTTGAGCC	0.542													T	77302606	C	T	77302606	2	4	274	1	0	0	0	0	0	0	0	1	1757	755	27	1		1	C14orf166B	14	77302606	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	57290	77302606	30046934	1224	140530											
TSHR	7253	broad.mit.edu	37	chr14	81609866	81609866	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaaccatgccatcgactgGcagacaggccctgggtgcaa	11	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:81609866G>A	uc001xvd.1	+	10	1620	c.1464G>A	c.(1462-1464)TGG>TGA	p.W488*		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	488	Extracellular (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCATCGACTGGCAGACAGGCC	0.547			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						A	81609866	G	A	81609866	4	1	274	1	0	0	0	0	0	1	0	0	16619	1212	42	2	1639	2	TSHR	14	81609866	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4307260	81609866	25739674	1225	140531											
FLRT2	23768	broad.mit.edu	37	chr14	86088364	86088364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgttgtttttgtctaagaAtcacctgagcagtgtgcctg	10	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:86088364A>C	uc001xvr.2	+	2	1273	c.506A>C	c.(505-507)AAT>ACT	p.N169T	FLRT2_uc010atd.2_Missense_Mutation_p.N169T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	169	Extracellular (Potential).|LRR 5.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGTCTAAGAATCACCTGAGC	0.502													C	86088364	A	C	86088364	3	2	274	1	0	0	0	0	1	0	0	0	5939	101	4	5	508	5	FLRT2	14	86088364	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4478498	86088364	21261176	1226	140532											
KCNK13	56659	broad.mit.edu	37	chr14	90528736	90528736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggccaacttcagccgcGgccacaacctgagccgcgac	11	18	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:90528736G>A	uc001xye.1	+	1	629	c.187G>A	c.(187-189)GGC>AGC	p.G63S		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	63						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				CTTCAGCCGCGGCCACAACCT	0.736													A	90528736	G	A	90528736	3	1	274	1	0	0	0	0	1	0	0	0	8061	1116	39	1	189	1	KCNK13	14	90528736	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4440372	90528736	16820804	1227	140533											
RIN3	79890	broad.mit.edu	37	chr14	93022170	93022170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgtctgccagccaaccCgaaaaactgccttcctcacc	6	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:93022170C>T	uc001yap.2	+	2	271	c.119C>T	c.(118-120)CCG>CTG	p.P40L	RIN3_uc010auk.2_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	40					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCAGCCAACCCGAAAAACTGC	0.552													T	93022170	C	T	93022170	3	4	274	1	0	0	0	0	1	0	0	0	13373	652	23	1	125	1	RIN3	14	93022170	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2493434	93022170	14327370	1228	140534											
BTBD7	55727	broad.mit.edu	37	chr14	93760654	93760654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtaatcaaagagtccacGcatatctacatcaagggaat	7	9	3	1	rs143569452		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:93760654G>A	uc001ybo.2	-	3	1038	c.712C>T	c.(712-714)CGT>TGT	p.R238C	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.R153C|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.R153C|BTBD7_uc001ybr.2_Missense_Mutation_p.R238C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	238										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAGAGTCCACGCATATCTACA	0.383													A	93760654	G	A	93760654	3	1	274	1	0	0	0	0	1	0	0	0	1546	1087	38	1	2797	1	BTBD7	14	93760654	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	738484	93760654	13588886	1229	140535											
DDX24	57062	broad.mit.edu	37	chr14	94526684	94526684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttagcgtctccaccgtgGcctcattccttgtgaggtca	10	13	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:94526684G>A	uc001ycj.2	-	5	1772	c.1673C>T	c.(1672-1674)GCC>GTC	p.A558V	DDX24_uc010twq.1_Missense_Mutation_p.A515V|DDX24_uc010twr.1_Missense_Mutation_p.A308V	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	558					RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTCCACCGTGGCCTCATTCCT	0.473													A	94526684	G	A	94526684	3	1	274	1	0	0	0	0	1	0	0	0	4351	1203	42	2	926	2	DDX24	14	94526684	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	766030	94526684	12822856	1230	140536											
PAPOLA	10914	broad.mit.edu	37	chr14	96986535	96986535	+	Frame_Shift_Del	DEL	T	T	-													gacattgaaaccctttggggTttttgaagaggaagaggaac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:96986534_96986534GT>G	uc001yfq.3	+	1	368	c.151_151GT>G	c.(151-153)gttfs	p.V51fs	PAPOLA_uc001yfp.3_Frame_Shift_Del_p.V51fs|PAPOLA_uc001yfo.3_Frame_Shift_Del_p.V51fs|PAPOLA_uc001yfr.3_Frame_Shift_Del_p.V51fs|PAPOLA_uc010twv.2_Frame_Shift_Del_p.V51fs|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	51					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCTTTGGGGTTTTTGAAGA	0.383													-	96986535	T	-	96986535	7	5	274	1	0	1	0	1	0	0	0	0	11429	1725	60	0	158	0	PAPOLA	14	96986535	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	2459851	96986535	10363005	1231	140537											
SETD3	84193	broad.mit.edu	37	chr14	99865440	99865440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgaacagaaagatcgtggTttttcaagacggatttatct	9	7	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:99865440T>G	uc001ygc.2	-	13	1531	c.1361A>C	c.(1360-1362)AAC>ACC	p.N454T		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	454					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				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AAGATCGTGGTTTTTCAAGAC	0.318													G	99865440	T	G	99865440	3	3	274	1	0	0	0	0	1	0	0	0	14132	1725	60	5	427	5	SETD3	14	99865440	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2878905	99865440	7484100	1232	140538											
C14orf73	91828	broad.mit.edu	37	chr14	103573803	103573803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagggactggctgacgcagGactggctgcatcccctcatg	13	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:103573803G>A	uc001ymk.2	+	8	1700	c.1624G>A	c.(1624-1626)GAC>AAC	p.D542N		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	542											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GCTGACGCAGGACTGGCTGCA	0.657													A	103573803	G	A	103573803	3	1	274	1	0	0	0	0	1	0	0	0	1779	1174	41	4	1654	4	C14orf73	14	103573803	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3708363	103573803	3775737	1233	140539											
AHNAK2	113146	broad.mit.edu	37	chr14	105414444	105414444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgacatccacctccacGctgggctgagacacctccac	8	19	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:105414444G>A	uc010axc.1	-	7	7464	c.7344C>T	c.(7342-7344)AGC>AGT	p.S2448S	AHNAK2_uc001ypx.2_Silent_p.S2348S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2448						nucleus				ovary(1)	1		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)			CCACCTCCACGCTGGGCTGAG	0.632													A	105414444	G	A	105414444	2	1	274	1	0	0	0	0	0	0	0	1	415	1078	38	1		1	AHNAK2	14	105414444	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1840641	105414444	1935096	1234	140540											
AHNAK2	113146	broad.mit.edu	37	chr14	105419396	105419396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgtccacctccatgcTggacagagacatcttcacat	8	14	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:105419396T>C	uc010axc.1	-	7	2512	c.2392A>G	c.(2392-2394)AGC>GGC	p.S798G	AHNAK2_uc001ypx.2_Missense_Mutation_p.S698G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	798						nucleus				ovary(1)	1		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)			ACCTCCATGCTGGACAGAGAC	0.617													C	105419396	T	C	105419396	3	2	274	1	0	0	0	0	1	0	0	0	415	1580	55	3	14999	3	AHNAK2	14	105419396	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	4952	105419396	1930144	1235	140541											
CRIP1	1396	broad.mit.edu	37	chr14	105954583	105954583	+	Frame_Shift_Del	DEL	G	G	-													gtgggaagacgctgacctctGggggccacgctgaggtaggt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr14:105954582_105954582TG>T	uc001yri.4	+	2	234	c.120_120TG>T	c.(118-120)tctfs	p.S40fs	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	40	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		CGCTGACCTCTGGGGGCCACG	0.657													-	105954583	G	-	105954583	7	5	274	1	0	1	0	1	0	0	0	0	3874	1348	47	0	127	0	CRIP1	14	105954583	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	535187	105954583	1394957	1236	140542											
CYFIP1	23191	broad.mit.edu	37	chr15	22929769	22929769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctgtgccatgccgagaGgaggaaggacttcgtgtcag	16	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:22929769G>T	uc001yus.2	+	6	547	c.443G>T	c.(442-444)AGG>ATG	p.R148M	CYFIP1_uc001yut.2_Missense_Mutation_p.R148M|CYFIP1_uc010aya.1_Missense_Mutation_p.R176M	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	148					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			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		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)		CATGCCGAGAGGAGGAAGGAC	0.547													T	22929769	G	T	22929769	3	4	274	1	0	0	0	0	1	0	0	0	4137	1000	35	5	461	5	CYFIP1	15	22929769	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		22929769	79601623	1237	140543											
CYFIP1	23191	broad.mit.edu	37	chr15	23002965	23002965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagtacctgaagtcaggCgacggggagggcacgccagt	16	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:23002965C>T	uc001yus.2	+	31	3791	c.3687C>T	c.(3685-3687)GGC>GGT	p.G1229G	CYFIP1_uc001yut.2_Silent_p.G1229G|CYFIP1_uc001yuu.2_Silent_p.G798G|CYFIP1_uc001yuv.2_Silent_p.G423G	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1229					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			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		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)		TGAAGTCAGGCGACGGGGAGG	0.567													T	23002965	C	T	23002965	2	4	274	1	0	0	0	0	0	0	0	1	4137	755	27	1		1	CYFIP1	15	23002965	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	73196	23002965	79528427	1238	140544											
MAGEL2	54551	broad.mit.edu	37	chr15	23890303	23890303	+	Frame_Shift_Del	DEL	G	G	-													ttgagtggtggcagttgcctGgggggcagctgctgtagcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:23890302_23890302TG>T	uc001ywj.4	-	0	2692	c.2588_2588CA>A	c.(2587-2589)cagfs	p.Q863fs		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											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)		GGCAGTTGCCTGGGGGGCAGC	0.632													-	23890303	G	-	23890303	7	5	274	1	0	1	0	1	0	0	0	0	9189	1357	47	0	1166	0	MAGEL2	15	23890303	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	887338	23890303	78641089	1239	140545											
GABRB3	2562	broad.mit.edu	37	chr15	26793230	26793230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgagacctcattcaTttcattgtgaacttccagcg	8	13	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:26793230T>C	uc001zaz.2	-	9	1274	c.1132A>G	c.(1132-1134)ATG>GTG	p.M378V	GABRB3_uc010uae.1_Missense_Mutation_p.M293V|GABRB3_uc001zba.2_Missense_Mutation_p.M378V|GABRB3_uc001zbb.2_Missense_Mutation_p.M434V	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	378	Cytoplasmic (Probable).				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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	ACCTCATTCATTTCATTGTGA	0.453													C	26793230	T	C	26793230	3	2	274	1	0	0	0	0	1	0	0	0	6168	1493	52	3	293	3	GABRB3	15	26793230	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2902927	26793230	75738162	1240	140546											
GABRB3	2562	broad.mit.edu	37	chr15	26825568	26825568	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagccttgtccccgcctcGccagtaaaactcaatgtcat	6	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:26825568G>A	uc001zaz.2	-	6	722	c.580C>T	c.(580-582)CGA>TGA	p.R194*	GABRB3_uc010uae.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zba.2_Nonsense_Mutation_p.R194*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.R250*	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	194	Extracellular (Probable).				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			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	TCCCCGCCTCGCCAGTAAAAC	0.517													A	26825568	G	A	26825568	4	1	274	1	0	0	0	0	0	1	0	0	6168	1095	38	1	857	1	GABRB3	15	26825568	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	32338	26825568	75705824	1241	140547											
OCA2	4948	broad.mit.edu	37	chr15	28196964	28196964	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgccagggacaaacgaattGaggaaaaacatgaagataac	10	6	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:28196964G>C	uc001zbh.3	-	18	2027	c.1917C>G	c.(1915-1917)CTC>CTG	p.L639L	OCA2_uc010ayv.2_Silent_p.L615L	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	639	Extracellular (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		CAAACGAATTGAGGAAAAACA	0.433									Oculocutaneous_Albinism				C	28196964	G	C	28196964	2	2	274	1	0	0	0	0	0	0	0	1	10815	1277	45	5		5	OCA2	15	28196964	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1371396	28196964	74334428	1242	140548											
RYR3	6263	broad.mit.edu	37	chr15	34049795	34049795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaaagaaatggtggcCgggtgagtctacaagataaa	14	4	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:34049795C>T	uc001zhi.2	+	60	8773	c.8703C>T	c.(8701-8703)GCC>GCT	p.A2901A	RYR3_uc010bar.2_Silent_p.A2901A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2901	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		AAATGGTGGCCGGGTGAGTCT	0.478													T	34049795	C	T	34049795	2	4	274	1	0	0	0	0	0	0	0	1	13770	639	23	1		1	RYR3	15	34049795	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5852831	34049795	68481597	1243	140549											
SPRED1	161742	broad.mit.edu	37	chr15	38591731	38591731	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttttatccgtggagagCgactcagggacaaaatggta	11	7	1	1	rs121434315		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:38591731C>T	uc001zka.3	+	2	525	c.190C>T	c.(190-192)CGA>TGA	p.R64*		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	64	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		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)		CCGTGGAGAGCGACTCAGGGA	0.373									Legius_syndrome				T	38591731	C	T	38591731	4	4	274	1	0	0	0	0	0	1	0	0	15091	760	27	1	196	1	SPRED1	15	38591731	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4541936	38591731	63939661	1244	140550											
THBS1	7057	broad.mit.edu	37	chr15	39886303	39886303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccttttccttcaggtgCgcaccctgtggcatgaccct	8	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:39886303C>T	uc001zkh.2	+	20	3450	c.3271C>T	c.(3271-3273)CGC>TGC	p.R1091C	THBS1_uc010bbi.2_Missense_Mutation_p.R563C	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1091	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			ovary(3)|central_nervous_system(3)	6		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)	CCTTCAGGTGCGCACCCTGTG	0.473													T	39886303	C	T	39886303	3	4	274	1	0	0	0	0	1	0	0	0	15850	768	27	1	3345	1	THBS1	15	39886303	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1294572	39886303	62645089	1245	140551											
PAK6	56924	broad.mit.edu	37	chr15	40558161	40558161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgcagccccaccagccGgcggcgggcacagtccctgg	15	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:40558161G>A	uc010bbl.2	+	5	763	c.323G>A	c.(322-324)CGG>CAG	p.R108Q	PAK6_uc010bbm.2_Missense_Mutation_p.R108Q|PAK6_uc001zky.3_Missense_Mutation_p.R108Q|PAK6_uc010bbn.2_Missense_Mutation_p.R108Q|PAK6_uc001zlb.2_Missense_Mutation_p.R108Q	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	108	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		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)		CCCACCAGCCGGCGGCGGGCA	0.662													A	40558161	G	A	40558161	3	1	274	1	0	0	0	0	1	0	0	0	11404	1116	39	1	329	1	PAK6	15	40558161	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	671858	40558161	61973231	1246	140552											
ZFP106	64397	broad.mit.edu	37	chr15	42731306	42731306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacacccagaacgagacGtttctagtgggttttgctct	9	11	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:42731306G>A	uc001zpw.2	-	8	4735	c.4400C>T	c.(4399-4401)ACG>ATG	p.T1467M	ZFP106_uc001zpu.2_Missense_Mutation_p.T565M|ZFP106_uc001zpv.2_Missense_Mutation_p.T652M|ZFP106_uc001zpx.2_Missense_Mutation_p.T695M	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1467						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGAACGAGACGTTTCTAGTGG	0.423													A	42731306	G	A	42731306	3	1	274	1	0	0	0	0	1	0	0	0	17634	1145	40	1	1299	1	ZFP106	15	42731306	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2173145	42731306	59800086	1247	140553											
EPB42	2038	broad.mit.edu	37	chr15	43508551	43508551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggatgatggtgaagggCtgccccctcctcacaaagag	12	11	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:43508551C>T	uc001zra.3	-	2	411	c.111G>A	c.(109-111)CAG>CAA	p.Q37Q	EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Silent_p.Q67Q|EPB42_uc010udm.1_Silent_p.Q37Q	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	37	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			ovary(2)	2		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)		TGGTGAAGGGCTGCCCCCTCC	0.582													T	43508551	C	T	43508551	2	4	274	1	0	0	0	0	0	0	0	1	5158	796	28	2		2	EPB42	15	43508551	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	777245	43508551	59022841	1248	140554											
DUOX1	53905	broad.mit.edu	37	chr15	45453118	45453118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaatcatctatgggggCgacaagctggtgagcctgag	14	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:45453118C>T	uc001zus.1	+	30	4132	c.3786C>T	c.(3784-3786)GGC>GGT	p.G1262G	DUOX1_uc001zut.1_Silent_p.G1262G|DUOX1_uc010bee.1_Silent_p.G642G	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1262	Helical; (Potential).|Ferric oxidoreductase.				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			ovary(5)|skin(2)|breast(1)	8		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)		TCTATGGGGGCGACAAGCTGG	0.577													T	45453118	C	T	45453118	2	4	274	1	0	0	0	0	0	0	0	1	4800	755	27	1		1	DUOX1	15	45453118	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1944567	45453118	57078274	1249	140555											
FBN1	2200	broad.mit.edu	37	chr15	48722881	48722881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacctacacagccttcTccatcaggtctccgctgata	5	16	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:48722881T>C	uc001zwx.1	-	56	7186	c.6858A>G	c.(6856-6858)GGA>GGG	p.G2286G	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2286	EGF-like 39; 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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACAGCCTTCTCCATCAGGTC	0.483													C	48722881	T	C	48722881	2	2	274	1	0	0	0	0	0	0	0	1	5702	1538	54	3		3	FBN1	15	48722881	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3269763	48722881	53808511	1250	140556											
FBN1	2200	broad.mit.edu	37	chr15	48812973	48812973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctggttagagcagcGcccgtttgtcagagctgtgt	15	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:48812973G>A	uc001zwx.1	-	10	1358	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	344	TB 2.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAGAGCAGCGCCCGTTTGTC	0.517													A	48812973	G	A	48812973	3	1	274	1	0	0	0	0	1	0	0	0	5702	1087	38	1	7813	1	FBN1	15	48812973	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	90092	48812973	53718419	1251	140557											
COPS2	9318	broad.mit.edu	37	chr15	49422919	49422919	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcagaaagaacataccttCaatgtgttctcttatgaaag	8	7	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:49422919C>T	uc001zxf.2	-	10	1121	c.1042G>A	c.(1042-1044)GAA>AAA	p.E348K	COPS2_uc001zxh.2_Missense_Mutation_p.E355K|COPS2_uc010ufa.1_Missense_Mutation_p.E284K	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	348	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AACATACCTTCAATGTGTTCT	0.348													T	49422919	C	T	49422919	3	4	274	1	0	0	0	0	1	0	0	0	3733	835	29	4	305	4	COPS2	15	49422919	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	609946	49422919	53108473	1252	140558											
DMXL2	23312	broad.mit.edu	37	chr15	51799444	51799444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgaaaatggtggtgggCggtatcctattattcaaagg	12	5	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:51799444C>T	uc002abf.2	-	16	2876	c.2651G>A	c.(2650-2652)CGC>CAC	p.R884H	DMXL2_uc010ufy.1_Missense_Mutation_p.R884H|DMXL2_uc010bfa.2_Missense_Mutation_p.R884H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	884	WD 7.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGGTGGTGGGCGGTATCCTAT	0.328													T	51799444	C	T	51799444	3	4	274	1	0	0	0	0	1	0	0	0	4595	768	27	1	6574	1	DMXL2	15	51799444	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2376525	51799444	50731948	1253	140559											
SCG3	29106	broad.mit.edu	37	chr15	51974034	51974034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacctggaggaagccaaGgtatgtgaacacttttcttc	9	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:51974034G>T	uc002abh.2	+	1	490	c.82G>T	c.(82-84)GAC>TAC	p.D28Y	SCG3_uc010ufz.1_5'UTR	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	28					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		AGGAAGCCAAGGTATGTGAAC	0.488													T	51974034	G	T	51974034	3	4	274	1	0	0	0	0	1	0	0	0	13892	1014	35	5	84	5	SCG3	15	51974034	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	174590	51974034	50557358	1254	140560											
LEO1	123169	broad.mit.edu	37	chr15	52244057	52244057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccttaatcatttctgtgCgttggcattcaggatcacga	8	9	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:52244057C>T	uc002abo.2	-	9	1611	c.1595G>A	c.(1594-1596)CGC>CAC	p.R532H	LEO1_uc010bfd.2_Missense_Mutation_p.R472H	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component,	532					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding				0				all cancers(107;0.00264)		CATTTCTGTGCGTTGGCATTC	0.418													T	52244057	C	T	52244057	3	4	274	1	0	0	0	0	1	0	0	0	8726	768	27	1	421	1	LEO1	15	52244057	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	270023	52244057	50287335	1255	140561											
PRTG	283659	broad.mit.edu	37	chr15	55972291	55972291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagcaactgtaaagttgcGtgtgccaggggtagtggccc	14	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:55972291G>A	uc002adg.2	-	6	982	c.934C>T	c.(934-936)CGC>TGC	p.R312C		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	312	Ig-like 3.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTAAAGTTGCGTGTGCCAGGG	0.403													A	55972291	G	A	55972291	3	1	274	1	0	0	0	0	1	0	0	0	12638	1145	40	1	2578	1	PRTG	15	55972291	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3728234	55972291	46559101	1256	140562											
SLTM	79811	broad.mit.edu	37	chr15	59182636	59182637	+	Frame_Shift_Del	DEL	CT	CT	-													atgcgttctcgctctcgacgCtctctctctgcaatctctct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:59182635_59182636GCT>G	uc002afp.3	-	14	2011_2012	c.1923_1924AGC>C	c.(1921-1926)gagcgtfs	p.E641fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E183fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E623fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E210fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E210fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	641	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCTCTCGACGCTCTCTCTCTG	0.396													-	59182637	CT	-	59182636	7	5	274	1	0	1	0	1	0	0	0	0	14754	796	28	0	1209	0	SLTM	15	59182636	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GU-01A-11D-A25D-08	3210345	59182636	43348756	1257	140563											
APH1B	83464	broad.mit.edu	37	chr15	63569850	63569850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgtgttcttcggctgcGccttcattgccttcgggcct	12	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:63569850G>A	uc002ama.2	+	1	102	c.28G>A	c.(28-30)GCC>ACC	p.A10T	APH1B_uc002amb.2_Missense_Mutation_p.A10T|APH1B_uc010bgq.2_5'UTR|APH1B_uc010bgr.2_5'Flank	NM_031301	NP_112591	Q8WW43	APH1B_HUMAN	presenilin stabilization factor-like isoform 1	10	Helical; Name=1; (Potential).				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding				0						CTTCGGCTGCGCCTTCATTGC	0.687													A	63569850	G	A	63569850	3	1	274	1	0	0	0	0	1	0	0	0	772	1087	38	1	30	1	APH1B	15	63569850	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4387214	63569850	38961542	1258	140564											
PARP16	54956	broad.mit.edu	37	chr15	65555539	65555539	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaatgacctcacacacGgccacacagctaaggatggg	11	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:65555539G>T	uc002aoo.2	-	4	893	c.639C>A	c.(637-639)GCC>GCA	p.A213A	PARP16_uc002aop.2_Silent_p.A98A|PARP16_uc002aoq.2_Silent_p.A213A	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	213	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						CCTCACACACGGCCACACAGC	0.597													T	65555539	G	T	65555539	2	4	274	1	0	0	0	0	0	0	0	1	11460	1103	39	5		5	PARP16	15	65555539	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1985689	65555539	36975853	1259	140565											
IGDCC3	9543	broad.mit.edu	37	chr15	65623855	65623855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagacacagagactgcccGcacattgcggggaggcccgg	16	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:65623855G>A	uc002aos.2	-	8	1543	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	431	Extracellular (Potential).|Fibronectin type-III 1.									ovary(3)	3						GAGACTGCCCGCACATTGCGG	0.627													A	65623855	G	A	65623855	3	1	274	1	0	0	0	0	1	0	0	0	7568	1086	38	1	1181	1	IGDCC3	15	65623855	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	68316	65623855	36907537	1260	140566											
SLC24A1	9187	broad.mit.edu	37	chr15	65917329	65917329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagtgggaaagagcaaccCgaagactccccagggaacag	13	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:65917329C>T	uc010ujf.1	+	2	1198	c.911C>T	c.(910-912)CCG>CTG	p.P304L	SLC24A1_uc010ujd.1_Missense_Mutation_p.P304L|SLC24A1_uc010uje.1_Missense_Mutation_p.P304L|SLC24A1_uc010ujg.1_Missense_Mutation_p.P304L|SLC24A1_uc010ujh.1_Missense_Mutation_p.P304L	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	304	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						AAGAGCAACCCGAAGACTCCC	0.547													T	65917329	C	T	65917329	3	4	274	1	0	0	0	0	1	0	0	0	14465	652	23	1		1	SLC24A1	15	65917329	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	293474	65917329	36614063	1261	140567											
CLN6	54982	broad.mit.edu	37	chr15	68506646	68506646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgagcaagagaaagggCgtgatgacgttgtaggccat	14	7	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:68506646C>T	uc002arf.2	-	3	437	c.279G>A	c.(277-279)ACG>ACA	p.T93T	CLN6_uc010ujy.1_Missense_Mutation_p.R59H|CLN6_uc010ujz.1_Silent_p.T125T	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	93	Helical; (Potential).				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				0						AGAGAAAGGGCGTGATGACGT	0.547													T	68506646	C	T	68506646	2	4	274	1	0	0	0	0	0	0	0	1	3545	755	27	1		1	CLN6	15	68506646	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2589317	68506646	34024746	1262	140568											
ITGA11	22801	broad.mit.edu	37	chr15	68596150	68596150	+	Frame_Shift_Del	DEL	C	C	-													gcagggccagcagtaggaggCcccccagggtgctgcctaca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:68596149_68596149GC>G	uc010bib.3	-	28	3546	c.3459_3459GC>C	c.(3457-3459)ggcfs	p.G1153fs	ITGA11_uc002ari.3_Frame_Shift_Del_p.G1152fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	1152	Poly-Leu.				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)	GCAGTAGGAGGCCCCCCAGGG	0.657													-	68596150	C	-	68596150	7	5	274	1	0	1	0	1	0	0	0	0	7874	739	26	0	119	0	ITGA11	15	68596150	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	89504	68596150	33935242	1263	140569											
ITGA11	22801	broad.mit.edu	37	chr15	68612623	68612623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtgtggcctccaccGccactcgctggcgtgtgctc	11	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:68612623G>A	uc002ari.2	-	20	2603	c.2516C>T	c.(2515-2517)GCG>GTG	p.A839V	ITGA11_uc010bib.2_Missense_Mutation_p.A839V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	839	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	GGCCTCCACCGCCACTCGCTG	0.582													A	68612623	G	A	68612623	3	1	274	1	0	0	0	0	1	0	0	0	7874	1087	38	1	1094	1	ITGA11	15	68612623	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	16473	68612623	33918769	1264	140570											
UACA	55075	broad.mit.edu	37	chr15	70959979	70959979	+	Frame_Shift_Del	DEL	T	T	-													cttcttcactgacactatacTtttgtgtctgctctgataac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:70959978_70959978CT>C	uc002asr.3	-	15	3149	c.3045_3045AG>G	c.(3043-3045)aagfs	p.K1015fs	UACA_uc010uke.2_Frame_Shift_Del_p.K906fs|UACA_uc002asq.3_Frame_Shift_Del_p.K1002fs|UACA_uc010bin.1_Frame_Shift_Del_p.K990fs	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1015						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGACACTATACTTTTGTGTCT	0.368													-	70959979	T	-	70959979	7	5	274	1	0	1	0	1	0	0	0	0	16821	1609	56	0	1222	0	UACA	15	70959979	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	2347356	70959979	31571413	1265	140571											
LRRC49	54839	broad.mit.edu	37	chr15	71185961	71185961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttattcaaacatcatcGcttcctgaaaaaaacaaagt	5	9	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:71185961G>A	uc002asw.2	+	2	334	c.87G>A	c.(85-87)TCG>TCA	p.S29S	LRRC49_uc002asu.2_Silent_p.S19S|LRRC49_uc002asx.2_5'UTR|LRRC49_uc010ukf.1_Silent_p.S29S|LRRC49_uc002asy.2_5'Flank|LRRC49_uc002asz.2_5'Flank|THAP10_uc002asv.2_5'Flank	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	29						cytoplasm|microtubule				ovary(1)	1						AAACATCATCGCTTCCTGAAA	0.299													A	71185961	G	A	71185961	2	1	274	1	0	0	0	0	0	0	0	1	9006	1074	38	1		1	LRRC49	15	71185961	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	225982	71185961	31345431	1266	140572											
THSD4	79875	broad.mit.edu	37	chr15	71535125	71535125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcatcccgccattccaggtCccagggagcatcttctgcta	8	16	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:71535125C>A	uc002atb.1	+	4	681	c.602C>A	c.(601-603)TCC>TAC	p.S201Y	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	201	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CATTCCAGGTCCCAGGGAGCA	0.577													A	71535125	C	A	71535125	3	1	274	1	0	0	0	0	1	0	0	0	15875	855	30	5	616	5	THSD4	15	71535125	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	349164	71535125	30996267	1267	140573											
ARIH1	25820	broad.mit.edu	37	chr15	72874426	72874426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttacagaataaccaagCagatctagagaatgccacag	7	10	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:72874426C>T	uc002aut.3	+	13	1801	c.1487C>T	c.(1486-1488)GCA>GTA	p.A496V		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	496					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding				0						AATAACCAAGCAGATCTAGAG	0.378													T	72874426	C	T	72874426	3	4	274	1	0	0	0	0	1	0	0	0	923	710	25	2	1537	2	ARIH1	15	72874426	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1339301	72874426	29656966	1268	140574											
HCN4	10021	broad.mit.edu	37	chr15	73617459	73617459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcttggtcagcatggaCgtcacgaagttggggtccgc	15	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:73617459C>T	uc002avp.2	-	6	2809	c.1815G>A	c.(1813-1815)ACG>ACA	p.T605T		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	605	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TCAGCATGGACGTCACGAAGT	0.557													T	73617459	C	T	73617459	2	4	274	1	0	0	0	0	0	0	0	1	6999	523	19	1		1	HCN4	15	73617459	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	743033	73617459	28913933	1269	140575											
GOLGA6A	342096	broad.mit.edu	37	chr15	74368307	74368307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaccaccgctggaggaccGcttctctgcagctcgaggac	12	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:74368307G>A	uc002axa.1	-	8	625	c.584C>T	c.(583-585)GCG>GTG	p.A195V		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	195	Potential.										0						CTGGAGGACCGCTTCTCTGCA	0.557													A	74368307	G	A	74368307	3	1	274	1	0	0	0	0	1	0	0	0	6557	1087	38	1	1541	1	GOLGA6A	15	74368307	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	750848	74368307	28163085	1270	140576											
CCDC33	80125	broad.mit.edu	37	chr15	74623083	74623083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcatttgcagaatgaGctgattcgagtgagctgggg	16	6	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:74623083G>A	uc002axo.2	+	13	1930	c.1536G>A	c.(1534-1536)GAG>GAA	p.E512E	CCDC33_uc002axp.2_Silent_p.E334E|CCDC33_uc002axq.2_Silent_p.E105E|CCDC33_uc002axr.2_Silent_p.E105E	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	715	Potential.						protein binding			ovary(3)|skin(2)	5						TGCAGAATGAGCTGATTCGAG	0.572													A	74623083	G	A	74623083	2	1	274	1	0	0	0	0	0	0	0	1	2806	962	34	2		2	CCDC33	15	74623083	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	254776	74623083	27908309	1271	140577											
FAH	2184	broad.mit.edu	37	chr15	80454663	80454663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagggacaaggagaatgCgttgatgccaaattggtatg	14	5	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:80454663C>T	uc002bfj.2	+	6	522	c.440C>T	c.(439-441)GCG>GTG	p.A147V	FAH_uc002bfk.1_Missense_Mutation_p.A147V|FAH_uc002bfm.1_Missense_Mutation_p.A147V|FAH_uc002bfn.1_Missense_Mutation_p.A77V|FAH_uc010unl.1_Silent_p.C168C|FAH_uc002bfl.1_Missense_Mutation_p.A147V	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	147					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						AAGGAGAATGCGTTGATGCCA	0.458									Tyrosinemia_type_1				T	80454663	C	T	80454663	3	4	274	1	0	0	0	0	1	0	0	0	5371	768	27	1	458	1	FAH	15	80454663	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5831580	80454663	22076729	1272	140578											
ARNT2	9915	broad.mit.edu	37	chr15	80869226	80869226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagaagaagatgatgagCtcagcctctgcagcaggaac	14	9	2	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:80869226C>T	uc002bfr.2	+	15	1699	c.1533C>T	c.(1531-1533)AGC>AGT	p.S511S	ARNT2_uc010unm.1_Silent_p.S500S|ARNT2_uc002bfs.2_Silent_p.S500S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	511					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			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGATGATGAGCTCAGCCTCTG	0.582													T	80869226	C	T	80869226	2	4	274	1	0	0	0	0	0	0	0	1	966	796	28	2		2	ARNT2	15	80869226	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	414563	80869226	21662166	1273	140579											
AKAP13	11214	broad.mit.edu	37	chr15	86266404	86266404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttatgaaaagaaagtgCgtctcaatgagatttataca	8	5	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:86266404C>T	uc002blv.1	+	26	6768	c.6598C>T	c.(6598-6600)CGT>TGT	p.R2200C	AKAP13_uc002blu.1_Missense_Mutation_p.R2204C|AKAP13_uc010bnf.1_Missense_Mutation_p.R821C|AKAP13_uc002blw.1_Missense_Mutation_p.R665C|AKAP13_uc002blx.1_Missense_Mutation_p.R445C	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2200	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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AAAGAAAGTGCGTCTCAATGA	0.428													T	86266404	C	T	86266404	3	4	274	1	0	0	0	0	1	0	0	0	449	768	27	1	6766	1	AKAP13	15	86266404	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5397178	86266404	16264988	1274	140580											
AGBL1	123624	broad.mit.edu	37	chr15	86790991	86790991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccatgacacagccaacGcctacgtgcagatccgacgg	10	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:86790991G>A	uc002blz.1	+	6	558	c.478G>A	c.(478-480)GCC>ACC	p.A160T		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	160					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						CACAGCCAACGCCTACGTGCA	0.632													A	86790991	G	A	86790991	3	1	274	1	0	0	0	0	1	0	0	0	375	1087	38	1	496	1	AGBL1	15	86790991	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	524587	86790991	15740401	1275	140581											
C15orf42	90381	broad.mit.edu	37	chr15	90170255	90170255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcgctttctccaggaggCgccccatcagcagaacttat	10	14	2	1	rs151193931		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:90170255C>T	uc002boe.2	+	22	5671	c.5671C>T	c.(5671-5673)CGC>TGC	p.R1891C	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1891					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCAGGAGGCGCCCCATCAG	0.498													T	90170255	C	T	90170255	3	4	274	1	0	0	0	0	1	0	0	0	1796	768	27	1	5757	1	C15orf42	15	90170255	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3379264	90170255	12361137	1276	140582											
C15orf58	390637	broad.mit.edu	37	chr15	90784507	90784507	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcatttgaccctgtaCagttcaacttcaacaagatc	8	11	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:90784507C>T	uc002bpc.2	+	4	546	c.367C>T	c.(367-369)CAG>TAG	p.Q123*		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	123					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						TGACCCTGTACAGTTCAACTT	0.577													T	90784507	C	T	90784507	4	4	274	1	0	0	0	0	0	1	0	0	1806	479	17	4	369	4	C15orf58	15	90784507	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	614252	90784507	11746885	1277	140583											
BLM	641	broad.mit.edu	37	chr15	91333930	91333930	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgacaaaccggacgtgCgatttgtgattcatgcatct	11	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:91333930C>T	uc002bpr.2	+	15	2972	c.2875C>T	c.(2875-2877)CGA>TGA	p.R959*	BLM_uc010uqh.1_Nonsense_Mutation_p.R959*|BLM_uc010uqi.1_Nonsense_Mutation_p.R584*|BLM_uc010bnx.2_Nonsense_Mutation_p.R959*|BLM_uc002bps.1_Nonsense_Mutation_p.R521*	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	959	Helicase C-terminal.				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			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACCGGACGTGCGATTTGTGAT	0.423			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				T	91333930	C	T	91333930	4	4	274	1	0	0	0	0	0	1	0	0	1445	760	27	1	2929	1	BLM	15	91333930	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	549423	91333930	11197462	1278	140584											
CHD2	1106	broad.mit.edu	37	chr15	93482905	93482905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgatgatgatgacgaaGctcccaaaaggcagactcgt	12	8	0	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:93482905G>A	uc002bsp.2	+	7	1224	c.649G>A	c.(649-651)GCT>ACT	p.A217T	CHD2_uc002bsm.1_Missense_Mutation_p.A217T|CHD2_uc002bsn.2_Missense_Mutation_p.A217T|CHD2_uc002bso.1_Missense_Mutation_p.A217T|CHD2_uc010urb.1_Missense_Mutation_p.A230T	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	217					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGACGAAGCTCCCAAAAG	0.443													A	93482905	G	A	93482905	3	1	274	1	0	0	0	0	1	0	0	0	3325	971	34	2	671	2	CHD2	15	93482905	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2148975	93482905	9048487	1279	140585											
CHD2	1106	broad.mit.edu	37	chr15	93547920	93547920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatattacagcaggaaGtgaacctgtccccattggag	10	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:93547920G>A	uc002bsp.2	+	34	4927	c.4352G>A	c.(4351-4353)AGT>AAT	p.S1451N	CHD2_uc002bso.1_Missense_Mutation_p.S1451N	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1451					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACAGCAGGAAGTGAACCTGTC	0.468													A	93547920	G	A	93547920	3	1	274	1	0	0	0	0	1	0	0	0	3325	1029	36	4	4486	4	CHD2	15	93547920	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	65015	93547920	8983472	1280	140586											
IGF1R	3480	broad.mit.edu	37	chr15	99500618	99500618	+	Frame_Shift_Del	DEL	G	G	-													agccttacgcccacatgaacGggggccgcaagaacgagcgg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:99500617_99500617CG>C	uc002bul.3	+	20	4100	c.4050_4050CG>C	c.(4048-4050)aacfs	p.N1350fs	IGF1R_uc010bon.3_Frame_Shift_Del_p.N1349fs	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1350					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|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)	CCCACATGAACGGGGGCCGCA	0.647													-	99500618	G	-	99500618	7	5	274	1	0	1	0	1	0	0	0	0	7571	1116	39	0	4133	0	IGF1R	15	99500618	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	5952698	99500618	3030774	1281	140587											
OR4F15	390649	broad.mit.edu	37	chr15	102359245	102359245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttctgaatccagttAtctacacattcaggaacaaa	4	11	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr15:102359245A>G	uc010uts.1	+	1	856	c.856A>G	c.(856-858)ATC>GTC	p.I286V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GAATCCAGTTATCTACACATT	0.398													G	102359245	A	G	102359245	3	3	274	1	0	0	0	0	1	0	0	0	11061	449	16	3	858	3	OR4F15	15	102359245	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2858627	102359245	172147	1282	140588											
AXIN1	8312	broad.mit.edu	37	chr16	396908	396908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagaaactgtagctggCgggcctcgggtctgtggaca	17	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:396908C>T	uc002cgp.1	-	2	295	c.118G>A	c.(118-120)GCC>ACC	p.A40T	AXIN1_uc002cgq.1_Missense_Mutation_p.A40T	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	40					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			breast(1)|liver(1)	2		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)				CTGTAGCTGGCGGGCCTCGGG	0.612													T	396908	C	T	396908	3	4	274	1	0	0	0	0	1	0	0	0	1236	768	27	1	2510	1	AXIN1	16	396908	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		396908	89957845	1283	140589											
SOLH	6650	broad.mit.edu	37	chr16	599089	599089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgtgtgaggcagtggCtgcgaccccaggagatcaac	15	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:599089C>T	uc002chi.2	+	5	1909	c.1546C>T	c.(1546-1548)CTG>TTG	p.L516L		NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	516	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				GAGGCAGTGGCTGCGACCCCA	0.642													T	599089	C	T	599089	2	4	274	1	0	0	0	0	0	0	0	1	14925	796	28	2		2	SOLH	16	599089	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	202181	599089	89755664	1284	140590											
C16orf11	146325	broad.mit.edu	37	chr16	613643	613643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccccgcgcctgacctcGtggtcgccgacatccactcc	9	21	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:613643G>A	uc002chk.2	+	2	628	c.349G>A	c.(349-351)GTG>ATG	p.V117M		NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	117	Pro-rich.									central_nervous_system(1)	1						GCCTGACCTCGTGGTCGCCGA	0.736													A	613643	G	A	613643	3	1	274	1	0	0	0	0	1	0	0	0	1810	1145	40	1	351	1	C16orf11	16	613643	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	14554	613643	89741110	1285	140591											
NARFL	64428	broad.mit.edu	37	chr16	789708	789708	+	Frame_Shift_Del	DEL	T	T	-													ggccacgccacttcccgcccTtttttccactttgacaggct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:789707_789707CT>C	uc002cjr.3	-	1	110	c.98_98AG>G	c.(97-99)aggfs	p.R33fs	NARFL_uc002cjp.3_5'Flank|NARFL_uc002cjq.3_5'UTR|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010brc.1_Frame_Shift_Del_p.R33fs|NARFL_uc010uur.1_Frame_Shift_Del_p.R33fs	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	33					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)				ACTTCCCGCCCTTTTTTCCAC	0.562													-	789708	T	-	789708	7	5	274	1	0	1	0	1	0	0	0	0	10168	1608	56	0	1373	0	NARFL	16	789708	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	176065	789708	89565045	1286	140592											
IGFALS	3483	broad.mit.edu	37	chr16	1841355	1841355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggccgaggaaagcgcccGccttgacctcctggagctgg	15	13	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:1841355G>A	uc002cmy.2	-	2	1145	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	IGFALS_uc010uvn.1_Missense_Mutation_p.A393V|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	355	LRR 12.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GAAAGCGCCCGCCTTGACCTC	0.652													A	1841355	G	A	1841355	3	1	274	1	0	0	0	0	1	0	0	0	7577	1087	38	1	757	1	IGFALS	16	1841355	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1051647	1841355	88513398	1287	140593											
PKD1	5310	broad.mit.edu	37	chr16	2147444	2147444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgctacccacaatggaCgggtcactgagcaggtccgg	13	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2147444C>T	uc002cos.1	-	33	10490	c.10281G>A	c.(10279-10281)CCG>CCA	p.P3427P	PKD1_uc002cot.1_Silent_p.P3426P|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3427	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCACAATGGACGGGTCACTGA	0.687													T	2147444	C	T	2147444	2	4	274	1	0	0	0	0	0	0	0	1	11963	523	19	1		1	PKD1	16	2147444	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	306089	2147444	88207309	1288	140594											
PKD1	5310	broad.mit.edu	37	chr16	2161489	2161489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgaccaccacgggggCgccctgctccacggccaggc	15	18	0	1	rs150710956	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2161489C>T	uc002cos.1	-	15	3888	c.3679G>A	c.(3679-3681)GCC>ACC	p.A1227T	PKD1_uc002cot.1_Missense_Mutation_p.A1227T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1227	PKD 7.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACCACGGGGGCGCCCTGCTCC	0.697													T	2161489	C	T	2161489	3	4	274	1	0	0	0	0	1	0	0	0	11963	768	27	1	9360	1	PKD1	16	2161489	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	14045	2161489	88193264	1289	140595											
MLST8	64223	broad.mit.edu	37	chr16	2258808	2258808	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtggagactggagagaTcaagagagagtatggcggcc	18	5	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2258808T>A	uc002coz.2	+	9	1030	c.911T>A	c.(910-912)ATC>AAC	p.I304N	MLST8_uc002cpa.2_Missense_Mutation_p.I120N|MLST8_uc002cpb.2_Missense_Mutation_p.I303N|MLST8_uc010uvx.1_Missense_Mutation_p.I238N|MLST8_uc002cpc.2_Missense_Mutation_p.I304N|MLST8_uc002cpd.2_Missense_Mutation_p.I238N|MLST8_uc002cpe.2_Missense_Mutation_p.I304N|MLST8_uc002cpg.2_Missense_Mutation_p.I323N|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.I304N	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	304	WD 7.				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				0						ACTGGAGAGATCAAGAGAGAG	0.622													A	2258808	T	A	2258808	3	1	274	1	0	0	0	0	1	0	0	0	9634	1435	50	5	941	5	MLST8	16	2258808	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	97319	2258808	88095945	1290	140596											
E4F1	1877	broad.mit.edu	37	chr16	2279661	2279661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcagacatcagccacGcatctgaccttgttggtaag	11	11	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:2279661G>A	uc002cpm.2	+	3	448	c.400G>A	c.(400-402)GCA>ACA	p.A134T	E4F1_uc010bsi.2_Missense_Mutation_p.A134T|E4F1_uc010bsj.2_Missense_Mutation_p.A134T	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	134					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						CATCAGCCACGCATCTGACCT	0.627													A	2279661	G	A	2279661	3	1	274	1	0	0	0	0	1	0	0	0	4874	1087	38	1	410	1	E4F1	16	2279661	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	20853	2279661	88075092	1291	140597											
CLDN9	9080	broad.mit.edu	37	chr16	3063540	3063540	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcgtggtgcagagcacGggccagatgcagtgcaaggt	16	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3063540G>C	uc010uwo.1	+	1	1084	c.177G>C	c.(175-177)ACG>ACC	p.T59T		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	59	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TGCAGAGCACGGGCCAGATGC	0.662													C	3063540	G	C	3063540	2	2	274	1	0	0	0	0	0	0	0	1	3492	1103	39	5		5	CLDN9	16	3063540	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	783879	3063540	87291213	1292	140598											
OR2C1	4993	broad.mit.edu	37	chr16	3406837	3406837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaacatggaagtgaagggCgcactgaggaggttgctggg	19	6	0	2	rs143663049		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3406837C>T	uc002cuw.1	+	1	949	c.897C>T	c.(895-897)GGC>GGT	p.G299G		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AAGTGAAGGGCGCACTGAGGA	0.493													T	3406837	C	T	3406837	2	4	274	1	0	0	0	0	0	0	0	1	10992	755	27	1		1	OR2C1	16	3406837	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	343297	3406837	86947916	1293	140599											
NLRC3	197358	broad.mit.edu	37	chr16	3602259	3602259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgctgggctcccatgggCccgatgctgttcttctgcag	12	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3602259C>T	uc010btn.2	-	10	2700	c.2289G>A	c.(2287-2289)GGG>GGA	p.G763G	NLRC3_uc010bto.1_Missense_Mutation_p.G28D	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	763	LRR 6.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CTCCCATGGGCCCGATGCTGT	0.507													T	3602259	C	T	3602259	2	4	274	1	0	0	0	0	0	0	0	1	10468	726	26	2		2	NLRC3	16	3602259	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	195422	3602259	86752494	1294	140600											
NLRC3	197358	broad.mit.edu	37	chr16	3614879	3614879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattgctgcagggccccagCggggcatccggtgtcctatc	13	15	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3614879C>T	uc010btn.2	-	4	570	c.159G>A	c.(157-159)CCG>CCA	p.P53P		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	53					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGGGCCCCAGCGGGGCATCCG	0.672													T	3614879	C	T	3614879	2	4	274	1	0	0	0	0	0	0	0	1	10468	755	27	1		1	NLRC3	16	3614879	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	12620	3614879	86739874	1295	140601											
BTBD12	84464	broad.mit.edu	37	chr16	3640612	3640612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccctttccctgacagcGccactttgttcctcgggctc	8	18	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3640612G>A	uc002cvp.2	-	12	3654	c.3027C>T	c.(3025-3027)GGC>GGT	p.G1009G		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1009	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCCTGACAGCGCCACTTTGTT	0.597								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				A	3640612	G	A	3640612	2	1	274	1	0	0	0	0	0	0	0	1	1540	1074	38	1		1	BTBD12	16	3640612	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	25733	3640612	86714141	1296	140602											
DNASE1	1773	broad.mit.edu	37	chr16	3707190	3707190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcgtttcctggtaggaCgtcatgttgatgggcgactt	15	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3707190C>T	uc002cvr.2	+	7	2659	c.552C>T	c.(550-552)GAC>GAT	p.D184D		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	184					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CCTGGTAGGACGTCATGTTGA	0.627								Direct_reversal_of_damage					T	3707190	C	T	3707190	2	4	274	1	0	0	0	0	0	0	0	1	4660	535	19	1		1	DNASE1	16	3707190	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	66578	3707190	86647563	1297	140603											
CREBBP	1387	broad.mit.edu	37	chr16	3788617	3788617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatggtaaacggctgtgCggaggcaacgtggccggaag	16	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:3788617C>T	uc002cvv.2	-	26	4541	c.4337G>A	c.(4336-4338)CGC>CAC	p.R1446H	CREBBP_uc002cvw.2_Missense_Mutation_p.R1408H	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	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.R1446H(3)|p.R1446L(2)|p.R1446C(2)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AACGGCTGTGCGGAGGCAACG	0.408			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3788617	C	T	3788617	3	4	274	1	0	0	0	0	1	0	0	0	3861	768	27	1	3015	1	CREBBP	16	3788617	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	81427	3788617	86566136	1298	140604											
ADCY9	115	broad.mit.edu	37	chr16	4165068	4165068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctccacagaaggcaggCgaagccgatgtagaagagcg	15	9	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:4165068C>T	uc002cvx.2	-	2	915	c.376G>A	c.(376-378)GCC>ACC	p.A126T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	126	Helical; (Potential).				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			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AGAAGGCAGGCGAAGCCGATG	0.617													T	4165068	C	T	4165068	3	4	274	1	0	0	0	0	1	0	0	0	301	768	27	1	3725	1	ADCY9	16	4165068	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	376451	4165068	86189685	1299	140605											
ALG1	56052	broad.mit.edu	37	chr16	5134879	5134880	+	Frame_Shift_Del	DEL	AT	AT	-													ctccctttggttatggacacAtaactcctgggccagaggct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:5134878_5134879CAT>C	uc002cym.3	+	12	1432_1433	c.1391_1392CAT>C	c.(1390-1392)acafs	p.T464fs	ALG1_uc002cyj.3_Frame_Shift_Del_p.T353fs|ALG1_uc010bue.3_Frame_Shift_Del_p.T353fs|FAM86A_uc002cyo.2_3'UTR|FAM86A_uc002cyp.2_3'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	464					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	p.D463N(1)		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)				GTTATGGACACATAACTCCTGG	0.589													-	5134880	AT	-	5134879	7	5	274	1	0	1	0	1	0	0	0	0	510	204	8	0	1442	0	ALG1	16	5134879	Frame_Shift_Del	DEL	AT	TCGA-HU-A4GU-01A-11D-A25D-08	969811	5134879	85219874	1300	140606											
CIITA	4261	broad.mit.edu	37	chr16	11002909	11002909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttgagcgacacggtggCgctgtgggagtccctgcagc	16	12	0	1	rs143801818	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:11002909C>T	uc002dai.3	+	12	2814	c.2681C>T	c.(2680-2682)GCG>GTG	p.A894V	CIITA_uc002daj.3_Missense_Mutation_p.A895V|CIITA_uc002dak.3_Missense_Mutation_p.A310V|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	894					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)	1						GACACGGTGGCGCTGTGGGAG	0.602			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								T	11002909	C	T	11002909	3	4	274	1	0	0	0	0	1	0	0	0	3428	768	27	1	2727	1	CIITA	16	11002909	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5868030	11002909	79351844	1301	140607											
ERCC4	2072	broad.mit.edu	37	chr16	14016006	14016006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtggtgttatatttgCgacaagtaggatacttgtgg	13	4	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:14016006C>T	uc002dce.2	+	2	335	c.326C>T	c.(325-327)GCG>GTG	p.A109V	ERCC4_uc010bva.2_Missense_Mutation_p.A109V	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	109					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			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						GTTATATTTGCGACAAGTAGG	0.358			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				T	14016006	C	T	14016006	3	4	274	1	0	0	0	0	1	0	0	0	5215	768	27	1	332	1	ERCC4	16	14016006	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3013097	14016006	76338747	1302	140608											
MKL2	57496	broad.mit.edu	37	chr16	14346300	14346301	+	Frame_Shift_Ins	INS	-	-	C													agtcgccaagacaaaagatcINSccccccgctatgaggaggcc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:14346299_14346300T>TC	uc010uza.2	+	14	2798_2799	c.2643_2644T>TC	c.(2641-2646)gatcccfs	p.D881fs	MKL2_uc002dcg.3_Frame_Shift_Ins_p.D831fs|MKL2_uc002dcj.3_Frame_Shift_Ins_p.D126fs	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	870					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						AGACAAAAGATCCCCCCCGCTA	0.564													C	14346301	-	C	14346300	7	5	274	1	0	1	1	0	0	0	0	0	9602	855	30	0	2544	0	MKL2	16	14346300	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	330294	14346300	76008453	1303	140609											
ABCC1	4363	broad.mit.edu	37	chr16	16235070	16235070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaatccaggagtacggcGccccatcggacctcctgcag	12	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:16235070G>A	uc010bvi.2	+	31	4703	c.4528G>A	c.(4528-4530)GCC>ACC	p.A1510T	ABCC1_uc010bvj.2_Missense_Mutation_p.A1451T|ABCC1_uc010bvk.2_Missense_Mutation_p.A1454T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1445T|ABCC1_uc010bvm.2_Missense_Mutation_p.A1395T|ABCC1_uc002del.3_Missense_Mutation_p.A1404T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1510	ABC transporter 2.|Cytoplasmic.				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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGAGTACGGCGCCCCATCGGA	0.597													A	16235070	G	A	16235070	3	1	274	1	0	0	0	0	1	0	0	0	49	1087	38	1	4650	1	ABCC1	16	16235070	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1888770	16235070	74119683	1304	140610											
ABCC6	368	broad.mit.edu	37	chr16	16297376	16297376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccttcagcagtgggcGccactggctcccttcttgcc	12	15	2	0	rs74315139		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:16297376G>A	uc002den.3	-	8	926	c.889C>T	c.(889-891)CGC>TGC	p.R297C	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.R309C	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	297	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGCAGTGGGCGCCACTGGCTC	0.562													A	16297376	G	A	16297376	3	1	274	1	0	0	0	0	1	0	0	0	57	1087	38	1	3718	1	ABCC6	16	16297376	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	62306	16297376	74057377	1305	140611											
C16orf62	57020	broad.mit.edu	37	chr16	19639974	19639974	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttagcatcttctttttcgaTcactgggattaaacttggcc	7	10	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:19639974T>A	uc002dgn.1	+	17	1411	c.1399T>A	c.(1399-1401)TCA>ACA	p.S467T	C16orf62_uc002dgo.1_Missense_Mutation_p.S400T|C16orf62_uc002dgp.1_Missense_Mutation_p.S216T	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	467						integral to membrane				ovary(1)	1						TCTTTTTCGATCACTGGGATT	0.383													A	19639974	T	A	19639974	3	1	274	1	0	0	0	0	1	0	0	0	1825	1435	50	5	1465	5	C16orf62	16	19639974	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3342598	19639974	70714779	1306	140612											
OTOA	146183	broad.mit.edu	37	chr16	21709120	21709120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcttcatgggtcagtgCggaacacttatgggttttgg	13	8	3	0	rs149668552		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:21709120C>T	uc002djh.2	+	9	765	c.764C>T	c.(763-765)GCG>GTG	p.A255V	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A176V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	255					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		TGGGTCAGTGCGGAACACTTA	0.303													T	21709120	C	T	21709120	3	4	274	1	0	0	0	0	1	0	0	0	11302	768	27	1	832	1	OTOA	16	21709120	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2069146	21709120	68645633	1307	140613											
VWA3A	146177	broad.mit.edu	37	chr16	22122251	22122251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaaggagaagctgtttGtcctgtcctttggcaccaat	10	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:22122251G>A	uc010vbq.1	+	8	721	c.625G>A	c.(625-627)GTC>ATC	p.V209I	VWA3A_uc010bxc.2_Missense_Mutation_p.V196I	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	209						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		GAAGCTGTTTGTCCTGTCCTT	0.577													A	22122251	G	A	22122251	3	1	274	1	0	0	0	0	1	0	0	0	17237	1377	48	4	655	4	VWA3A	16	22122251	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	413131	22122251	68232502	1308	140614											
POLR3E	55718	broad.mit.edu	37	chr16	22339834	22339835	+	Frame_Shift_Ins	INS	-	-	C													cctgggccttggtcagtttcINSccccccagactgctgcttcc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:22339833_22339834T>TC	uc002dkk.3	+	18	2025_2026	c.1869_1870T>TC	c.(1867-1872)tttcccfs	p.F623fs	POLR3E_uc002dkj.1_3'UTR|POLR3E_uc002dkm.3_Frame_Shift_Ins_p.F587fs|POLR3E_uc010vbr.2_Frame_Shift_Ins_p.F623fs|POLR3E_uc002dkl.3_Frame_Shift_Ins_p.F623fs|POLR3E_uc010vbs.2_Frame_Shift_Ins_p.F587fs|POLR3E_uc010vbt.2_Frame_Shift_Ins_p.F567fs	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	623					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)		TTGGTCAGTTTCCCCCCCAGAC	0.574													C	22339835	-	C	22339834	7	5	274	1	0	1	1	0	0	0	0	0	12232	855	30	0	1940	0	POLR3E	16	22339834	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	217583	22339834	68014919	1309	140615											
USP31	57478	broad.mit.edu	37	chr16	23080714	23080714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagatggagaccttgtcAtctgctgcctccccaatctt	8	13	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:23080714A>G	uc002dll.2	-	16	2712	c.2712T>C	c.(2710-2712)GAT>GAC	p.D904D	USP31_uc002dlk.2_Silent_p.D176D|USP31_uc010vca.1_Silent_p.D207D|USP31_uc010bxm.2_Silent_p.D192D	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	904	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		AGACCTTGTCATCTGCTGCCT	0.527													G	23080714	A	G	23080714	2	3	274	1	0	0	0	0	0	0	0	1	17059	214	8	3		3	USP31	16	23080714	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	740880	23080714	67274039	1310	140616											
HS3ST4	9951	broad.mit.edu	37	chr16	25704428	25704428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggtgggcgtagagccGcacttcttcgacaggaacta	15	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:25704428G>A	uc002dof.2	+	1	1082	c.690G>A	c.(688-690)CCG>CCA	p.P230P		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	230	Substrate binding (By similarity).|Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		GCGTAGAGCCGCACTTCTTCG	0.677													A	25704428	G	A	25704428	2	1	274	1	0	0	0	0	0	0	0	1	7367	1074	38	1		1	HS3ST4	16	25704428	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2623714	25704428	64650325	1311	140617											
GSG1L	146395	broad.mit.edu	37	chr16	27840132	27840132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggaagtacttgatggCctcagggtctatgaaggtcg	13	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:27840132C>T	uc002doz.2	-	5	893	c.808G>A	c.(808-810)GCC>ACC	p.A270T	GSG1L_uc010bya.1_Missense_Mutation_p.A219T|GSG1L_uc010bxz.1_Missense_Mutation_p.A115T|GSG1L_uc002doy.2_Missense_Mutation_p.A115T	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	270						integral to membrane				ovary(1)	1						TACTTGATGGCCTCAGGGTCT	0.617													T	27840132	C	T	27840132	3	4	274	1	0	0	0	0	1	0	0	0	6821	739	26	2	199	2	GSG1L	16	27840132	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2135704	27840132	62514621	1312	140618											
XPO6	23214	broad.mit.edu	37	chr16	28167623	28167623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctgccgttaactgacGccatctttctggcccggatg	12	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:28167623G>A	uc002dpa.1	-	7	1370	c.869C>T	c.(868-870)GCG>GTG	p.A290V	XPO6_uc002dpb.1_Missense_Mutation_p.A276V|XPO6_uc010vcp.1_Missense_Mutation_p.A290V	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	290					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTTAACTGACGCCATCTTTCT	0.567													A	28167623	G	A	28167623	3	1	274	1	0	0	0	0	1	0	0	0	17445	1087	38	1	2580	1	XPO6	16	28167623	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	327491	28167623	62187130	1313	140619											
SPNS1	83985	broad.mit.edu	37	chr16	28993310	28993310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctccggcattcctgctgCgttcccgcgtggtccttggg	15	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:28993310C>T	uc010vdi.1	+	8	1038	c.898C>T	c.(898-900)CGT>TGT	p.R300C	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R227C|SPNS1_uc002dsa.2_Missense_Mutation_p.R300C|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|SPNS1_uc010byq.1_Missense_Mutation_p.R232C|LAT_uc010vdj.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	300					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						ATTCCTGCTGCGTTCCCGCGT	0.637											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28993310	C	T	28993310	3	4	274	1	0	0	0	0	1	0	0	0	15073	768	27	1	924	1	SPNS1	16	28993310	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	825687	28993310	61361443	1314	140620											
MVP	9961	broad.mit.edu	37	chr16	29847055	29847055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcaccacagtaggggCgtacctcccagcggtgtttg	14	12	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:29847055C>T	uc002dui.2	+	6	692	c.608C>T	c.(607-609)GCG>GTG	p.A203V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.A203V|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	203	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						ACAGTAGGGGCGTACCTCCCA	0.622													T	29847055	C	T	29847055	3	4	274	1	0	0	0	0	1	0	0	0	9996	768	27	1	626	1	MVP	16	29847055	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	853745	29847055	60507698	1315	140621											
TAOK2	9344	broad.mit.edu	37	chr16	29998812	29998812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagatgggtgcggcagcaGggcccccgggtgcgccgggg	22	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:29998812G>T	uc002dva.1	+	16	4002	c.3219G>T	c.(3217-3219)CAG>CAT	p.Q1073H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.Q1080H|TAOK2_uc002dvd.1_Missense_Mutation_p.Q900H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1073					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			ovary(1)	1						TGCGGCAGCAGGGCCCCCGGG	0.692													T	29998812	G	T	29998812	3	4	274	1	0	0	0	0	1	0	0	0	15545	991	35	5	3277	5	TAOK2	16	29998812	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	151757	29998812	60355941	1316	140622											
ITGAL	3683	broad.mit.edu	37	chr16	30522245	30522245	+	Frame_Shift_Del	DEL	G	G	-													tacactggtaaacagctcctGgggggactcggttgaattgc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:30522245delG	uc002dyi.3	+	23	2839	c.2663delG	c.(2662-2664)TGGfs	p.W888fs	ITGAL_uc002dyj.3_Frame_Shift_Del_p.W804fs|ITGAL_uc010vev.1_Frame_Shift_Del_p.W122fs	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	888	Extracellular (Potential).				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			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	AACAGCTCCTGGGGGGACTCG	0.562													-	30522245	G	-	30522245	7	5	274	1	0	1	0	1	0	0	0	0	7886	1357	47	0	2753	0	ITGAL	16	30522245	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	523433	30522245	59832508	1317	140623											
ORAI3	93129	broad.mit.edu	37	chr16	30960725	30960725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcggctacctggacctcAtgggggccagtcagcactcg	13	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:30960725A>G	uc002eac.2	+	1	321	c.115A>G	c.(115-117)ATG>GTG	p.M39V		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator	39						integral to membrane	protein binding				0						CCTGGACCTCATGGGGGCCAG	0.711													G	30960725	A	G	30960725	3	3	274	1	0	0	0	0	1	0	0	0	11259	217	8	3	117	3	ORAI3	16	30960725	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	438480	30960725	59394028	1318	140624											
BCKDK	10295	broad.mit.edu	37	chr16	31123326	31123326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggacatgcatagtggcGcccagtcaggacccatgcac	11	13	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:31123326G>A	uc002eaw.3	+	11	1388	c.1072G>A	c.(1072-1074)GCC>ACC	p.A358T	BCKDK_uc002eav.3_Missense_Mutation_p.A358T|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.A328T	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	358	Histidine kinase.				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			stomach(1)|breast(1)	2						GCATAGTGGCGCCCAGTCAGG	0.637													A	31123326	G	A	31123326	3	1	274	1	0	0	0	0	1	0	0	0	1361	1087	38	1	1110	1	BCKDK	16	31123326	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	162601	31123326	59231427	1319	140625											
ADCY7	113	broad.mit.edu	37	chr16	50346071	50346071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctgccagcccacgtggCtgcccactttatcggtgaca	10	16	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:50346071C>T	uc002egd.1	+	20	2841	c.2573C>T	c.(2572-2574)GCT>GTT	p.A858V		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	858	Cytoplasmic (Potential).				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			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCCCACGTGGCTGCCCACTTT	0.592													T	50346071	C	T	50346071	3	4	274	1	0	0	0	0	1	0	0	0	299	797	28	2	2651	2	ADCY7	16	50346071	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	19222745	50346071	40008682	1320	140626											
CYLD	1540	broad.mit.edu	37	chr16	50783604	50783604	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagtattttgaagttaatAtcacaatgagttcaggctta	7	4	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:50783604A>G	uc002egp.1	+	4	410	c.-5A>G	c.(-7--3)ATATC>ATGTC		CYLD_uc002egn.1_Translation_Start_Site|CYLD_uc002ego.2_Translation_Start_Site|CYLD_uc010cbs.1_Translation_Start_Site|CYLD_uc002egq.1_Translation_Start_Site|CYLD_uc002egr.1_Translation_Start_Site|CYLD_uc002egs.1_Translation_Start_Site	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD						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			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				TGAAGTTAATATCACAATGAG	0.363			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				G	50783604	A	G	50783604	1	3	274	1	0	0	0	0	0	0	0	0	4143	464	16	3		3	CYLD	16	50783604	Translation_Start_Site	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	437533	50783604	39571149	1321	140627											
MMP2	4313	broad.mit.edu	37	chr16	55513487	55513487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgccgccgccgcgccgtcGcccatcatcaagttccccgg	10	21	2	0	rs146220690	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:55513487G>A	uc002ehz.3	+	1	407	c.96G>A	c.(94-96)TCG>TCA	p.S32S	MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	32					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		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)	CCGCGCCGTCGCCCATCATCA	0.657													A	55513487	G	A	55513487	2	1	274	1	0	0	0	0	0	0	0	1	9658	1074	38	1		1	MMP2	16	55513487	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4729883	55513487	34841266	1322	140628											
SLC6A2	6530	broad.mit.edu	37	chr16	55705876	55705876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgctgtcatcctgatcGccctgtacgttggcttctac	9	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:55705876G>A	uc002eif.2	+	4	544	c.433G>A	c.(433-435)GCC>ACC	p.A145T	SLC6A2_uc010ccd.2_Missense_Mutation_p.A145T|SLC6A2_uc002eig.2_Missense_Mutation_p.A145T|SLC6A2_uc002eih.2_Missense_Mutation_p.A145T|SLC6A2_uc002eii.2_Missense_Mutation_p.A40T	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	145	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				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)	CATCCTGATCGCCCTGTACGT	0.602													A	55705876	G	A	55705876	3	1	274	1	0	0	0	0	1	0	0	0	14683	1087	38	1	534	1	SLC6A2	16	55705876	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	192389	55705876	34648877	1323	140629											
FAM192A	80011	broad.mit.edu	37	chr16	57207746	57207746	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttttgataataaggttAccatcatcccctccatccat	3	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:57207746A>G	uc010vhk.1	-	2	280	c.21T>C	c.(19-21)GGT>GGC	p.G7G	FAM192A_uc002ekz.3_Silent_p.G7G|FAM192A_uc002ekv.3_Intron|FAM192A_uc002ekw.3_Silent_p.G7G|FAM192A_uc002ekx.3_Silent_p.G7G|FAM192A_uc002eky.3_Silent_p.G7G|FAM192A_uc010ccx.2_Silent_p.G7G	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	NEFA-interacting nuclear protein NIP30	7						nucleus					0						TAATAAGGTTACCATCATCCC	0.343													G	57207746	A	G	57207746	2	3	274	1	0	0	0	0	0	0	0	1	5523	378	14	3		3	FAM192A	16	57207746	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1501870	57207746	33147007	1324	140630											
GPR114	221188	broad.mit.edu	37	chr16	57600566	57600566	+	Frame_Shift_Del	DEL	G	G	-													gggagccaggaaacagccctGggggggctggagccctgagg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:57600565_57600565TG>T	uc002ely.3	+	6	1124	c.601_601TG>T	c.(601-603)tggfs	p.W201fs	GPR114_uc002elx.4_Frame_Shift_Del_p.W201fs|GPR114_uc010vhr.2_Frame_Shift_Del_p.W201fs	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	201	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAACAGCCCTGGGGGGGCTG	0.607													-	57600566	G	-	57600566	7	5	274	1	0	1	0	1	0	0	0	0	6631	1357	47	0	624	0	GPR114	16	57600566	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	392820	57600566	32754187	1325	140631											
CCDC135	84229	broad.mit.edu	37	chr16	57760043	57760043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggacgtggcagagcgcGtgtttctggtcgcggaggag	20	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:57760043G>A	uc002emi.2	+	13	1911	c.1822G>A	c.(1822-1824)GTG>ATG	p.V608M	CCDC135_uc002emj.2_Missense_Mutation_p.V608M|CCDC135_uc002emk.2_Missense_Mutation_p.V543M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	608						cytoplasm				central_nervous_system(1)	1						GGCAGAGCGCGTGTTTCTGGT	0.627													A	57760043	G	A	57760043	3	1	274	1	0	0	0	0	1	0	0	0	2769	1145	40	1	1868	1	CCDC135	16	57760043	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	159477	57760043	32594710	1326	140632											
CDH11	1009	broad.mit.edu	37	chr16	65016160	65016160	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgtgcacgttggctgcCtctaccttcaagctataggc	10	12	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:65016160C>G	uc002eoi.2	-	8	1478	c.1044G>C	c.(1042-1044)GAG>GAC	p.E348D	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E348D|CDH11_uc010vin.1_Missense_Mutation_p.E222D|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	348	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGTTGGCTGCCTCTACCTTCA	0.453			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65016160	C	G	65016160	3	3	274	1	0	0	0	0	1	0	0	0	3097	680	24	5	1370	5	CDH11	16	65016160	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7256117	65016160	25338593	1327	140633											
FAM65A	79567	broad.mit.edu	37	chr16	67574500	67574500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctgcatgaaatatgggCgtcagcgctggaaactacgg	13	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:67574500C>T	uc010vjp.1	+	10	850	c.754C>T	c.(754-756)CGT>TGT	p.R252C	FAM65A_uc010cei.1_Missense_Mutation_p.R74C|FAM65A_uc002eth.2_Missense_Mutation_p.R232C|FAM65A_uc010cej.2_Missense_Mutation_p.R235C|FAM65A_uc002eti.1_Missense_Mutation_p.R195C|FAM65A_uc010vjq.1_Missense_Mutation_p.R246C|FAM65A_uc002etj.1_Missense_Mutation_p.R231C|FAM65A_uc002etk.2_Missense_Mutation_p.R231C	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	236						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		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)		GAAATATGGGCGTCAGCGCTG	0.537													T	67574500	C	T	67574500	3	4	274	1	0	0	0	0	1	0	0	0	5599	768	27	1	728	1	FAM65A	16	67574500	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2558340	67574500	22780253	1328	140634											
ESRP2	80004	broad.mit.edu	37	chr16	68269866	68269866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaagaggacgaccagtgatCcgggccaggggcaggggtcc	18	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:68269866C>T	uc010cfa.1	-	1	271	c.83G>A	c.(82-84)GGA>GAA	p.G28E	ESRP2_uc002evq.1_Missense_Mutation_p.G28E	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	28					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						GACCAGTGATCCgggccaggg	0.393													T	68269866	C	T	68269866	3	4	274	1	0	0	0	0	1	0	0	0	5259	855	30	4	2130	4	ESRP2	16	68269866	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	695366	68269866	22084887	1329	140635											
PLA2G15	23659	broad.mit.edu	37	chr16	68293534	68293534	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgccaccaccctggcctatCtgaaacgtgtgctccttggg	10	15	1	1	rs140573964	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:68293534C>T	uc002evr.2	+	6	1296	c.1213C>T	c.(1213-1215)CTG>TTG	p.L405L	PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Silent_p.L311L|PLA2G15_uc010vlf.1_Silent_p.L205L|PLA2G15_uc002evs.2_Silent_p.L226L	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	405					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						CCTGGCCTATCTGAAACGTGT	0.662													T	68293534	C	T	68293534	2	4	274	1	0	0	0	0	0	0	0	1	11992	912	32	4		4	PLA2G15	16	68293534	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	23668	68293534	22061219	1330	140636											
SMPD3	55512	broad.mit.edu	37	chr16	68405290	68405290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctccgttcctggcctgGcccccaggcacagggtcgtc	12	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:68405290G>A	uc002ewa.2	-	3	1217	c.795C>T	c.(793-795)GGC>GGT	p.G265G	SMPD3_uc010cfe.2_Silent_p.G265G|SMPD3_uc010vlh.1_Silent_p.G265G	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	265	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TCCTGGCCTGGCCCCCAGGCA	0.711													A	68405290	G	A	68405290	2	1	274	1	0	0	0	0	0	0	0	1	14806	1190	42	2		2	SMPD3	16	68405290	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	111756	68405290	21949463	1331	140637											
SF3B3	23450	broad.mit.edu	37	chr16	70602280	70602280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgggttcgctacaagcGtaatgaaaaccagcttatca	8	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:70602280G>A	uc002ezf.2	+	22	3258	c.3047G>A	c.(3046-3048)CGT>CAT	p.R1016H		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1016					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				CGCTACAAGCGTAATGAAAAC	0.473													A	70602280	G	A	70602280	3	1	274	1	0	0	0	0	1	0	0	0	14152	1145	40	1	3129	1	SF3B3	16	70602280	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2196990	70602280	19752473	1332	140638											
VAC14	55697	broad.mit.edu	37	chr16	70820182	70820182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccggctgtgggggtgcTgagacagggcaaactcctgg	16	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:70820182T>G	uc002ezm.2	-	2	449	c.191A>C	c.(190-192)CAG>CCG	p.Q64P	VAC14_uc010cfw.2_Intron|VAC14_uc002ezn.2_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	64					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				GTGGGGGTGCTGAGACAGGGC	0.617													G	70820182	T	G	70820182	3	3	274	1	0	0	0	0	1	0	0	0	17108	1580	55	5	2229	5	VAC14	16	70820182	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	217902	70820182	19534571	1333	140639											
TXNL4B	54957	broad.mit.edu	37	chr16	72120608	72120608	+	Frame_Shift_Del	DEL	C	C	-													ggactttggacaataagcttCcccctcattgctcctcgata							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:72120608delC	uc002fca.2	-	4	689	c.378delG	c.(376-378)GGGfs	p.G126fs	TXNL4B_uc010cgl.2_Intron|TXNL4B_uc010vmn.1_Frame_Shift_Del_p.G126fs|TXNL4B_uc010vmo.1_Frame_Shift_Del_p.G126fs	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	126					mitosis|mRNA processing|RNA splicing	spliceosomal complex				ovary(1)	1						CAATAAGCTTCCCCCTCATTG	0.368													-	72120608	C	-	72120608	7	5	274	1	0	1	0	1	0	0	0	0	16803	842	30	0	75	0	TXNL4B	16	72120608	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1300426	72120608	18234145	1334	140640											
PMFBP1	83449	broad.mit.edu	37	chr16	72153725	72153726	+	Frame_Shift_Ins	INS	-	-	T													aagaaaaaaatcacacttatINSttttttgacaaatggcagac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:72153724_72153725A>AT	uc002fcc.4	-	19	3219_3220	c.3047_3048T>AT	c.(3046-3048)aatfs	p.N1016fs	PMFBP1_uc002fcd.3_Intron|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Intron	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	1016										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATCACACTTATTTTTTTGACA	0.446													T	72153726	-	T	72153725	7	5	274	1	0	1	1	0	0	0	0	0	12134	1508	52	0		0	PMFBP1	16	72153725	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	33117	72153725	18201028	1335	140641											
CHST5	23563	broad.mit.edu	37	chr16	75563855	75563855	+	Frame_Shift_Del	DEL	A	A	-													cgcggctcgttgcccagttgAaaaaggcggacaggtttcgg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:75563854_75563854GA>G	uc002fej.1	-	4	768	c.447_447TC>C	c.(445-447)ttcfs	p.F149fs	CHST5_uc002fei.3_Frame_Shift_Del_p.F143fs|CHST5_uc021tlk.1_Frame_Shift_Del_p.F143fs	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	143					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						TTGCCCAGTTGAAAAAGGCGG	0.607													-	75563855	A	-	75563855	7	5	274	1	0	1	0	1	0	0	0	0	3407	246	9	0	811	0	CHST5	16	75563855	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	3410130	75563855	14790898	1336	140642											
CDYL2	124359	broad.mit.edu	37	chr16	80642064	80642064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgggccagaagacctgCgacaccagccccctgctgca	13	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:80642064C>T	uc002ffs.2	-	6	1392	c.1287G>A	c.(1285-1287)TCG>TCA	p.S429S		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	429						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						AGAAGACCTGCGACACCAGCC	0.622													T	80642064	C	T	80642064	2	4	274	1	0	0	0	0	0	0	0	1	3186	755	27	1		1	CDYL2	16	80642064	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5078209	80642064	9712689	1337	140643											
HSD17B2	3294	broad.mit.edu	37	chr16	82124512	82124512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattattcccataggagggGccccaatggaaaggctggca	12	11	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:82124512G>A	uc002fgv.2	+	4	842	c.670G>A	c.(670-672)GCC>ACC	p.A224T		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	224					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			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	CATAGGAGGGGCCCCAATGGA	0.338													A	82124512	G	A	82124512	3	1	274	1	0	0	0	0	1	0	0	0	7384	1203	42	2	684	2	HSD17B2	16	82124512	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1482448	82124512	8230241	1338	140644											
MBTPS1	8720	broad.mit.edu	37	chr16	84125426	84125426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatggcatagttgaaggCgtccaaaaaccaagatgtgt	10	6	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:84125426C>T	uc002fhi.2	-	7	1376	c.874G>A	c.(874-876)GCC>ACC	p.A292T		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	292	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TAGTTGAAGGCGTCCAAAAAC	0.388													T	84125426	C	T	84125426	3	4	274	1	0	0	0	0	1	0	0	0	9361	768	27	1	2352	1	MBTPS1	16	84125426	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2000914	84125426	6229327	1339	140645											
KLHDC4	54758	broad.mit.edu	37	chr16	87790005	87790005	+	Frame_Shift_Del	DEL	T	T	-													gaaaaaaatatatactttacTttttggccgttgaaatattc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:87790005delT	uc002fki.2	-	3	316	c.270delA	c.(268-270)AAAfs	p.K90fs	KLHDC4_uc002fkj.2_Frame_Shift_Del_p.K90fs|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	90	Kelch 1.									pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TATACTTTACTTTTTGGCCGT	0.393													-	87790005	T	-	87790005	7	5	274	1	0	1	0	1	0	0	0	0	8358	1623	56	0	1328	0	KLHDC4	16	87790005	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	3664579	87790005	2564748	1340	140646											
CBFA2T3	863	broad.mit.edu	37	chr16	88945709	88945709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgctggttgatgaccGtcagggcgtcctcggaggcc	14	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:88945709G>A	uc002fmm.1	-	11	1817	c.1631C>T	c.(1630-1632)ACG>ATG	p.T544M	CBFA2T3_uc002fml.1_Missense_Mutation_p.T458M|CBFA2T3_uc002fmk.1_Missense_Mutation_p.T43M	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	544					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTTGATGACCGTCAGGGCGTC	0.711			T	RUNX1	AML								A	88945709	G	A	88945709	3	1	274	1	0	0	0	0	1	0	0	0	2698	1145	40	1	338	1	CBFA2T3	16	88945709	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1155704	88945709	1409044	1341	140647											
ANKRD11	29123	broad.mit.edu	37	chr16	89349483	89349483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggaggcataggcctccCgtccttcctccttctcctgg	10	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:89349483C>A	uc002fmx.1	-	9	3928	c.3467G>T	c.(3466-3468)CGG>CTG	p.R1156L	ANKRD11_uc002fmy.1_Missense_Mutation_p.R1156L|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1156L|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1113L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1156	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		ATAGGCCTCCCGTCCTTCCTC	0.612													A	89349483	C	A	89349483	3	1	274	1	0	0	0	0	1	0	0	0	639	652	23	5	4544	5	ANKRD11	16	89349483	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	403774	89349483	1005270	1342	140648											
ANKRD11	29123	broad.mit.edu	37	chr16	89351149	89351149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccgacagggaggctcGcttcctgtgctcctgcctct	10	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:89351149G>A	uc002fmx.1	-	9	2262	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	ANKRD11_uc002fmy.1_Nonsense_Mutation_p.R601*|ANKRD11_uc002fnc.1_Nonsense_Mutation_p.R601*|ANKRD11_uc002fnb.1_Nonsense_Mutation_p.R558*	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	601						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		AGGGAGGCTCGCTTCCTGTGC	0.567													A	89351149	G	A	89351149	4	1	274	1	0	0	0	0	0	1	0	0	639	1095	38	1	6210	1	ANKRD11	16	89351149	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1666	89351149	1003604	1343	140649											
C16orf7	9605	broad.mit.edu	37	chr16	89775777	89775777	+	Frame_Shift_Del	DEL	G	G	-													gtggggatgccaatggcggtGgggggtgcattcctgtagag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr16:89775776_89775776TG>T	uc002fom.1	-	11	1581	c.1456_1456CA>A	c.(1456-1458)accfs	p.T486fs	C16orf7_uc002fol.1_Frame_Shift_Del_p.T416fs|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	486	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCAATGGCGGTGGGGGGTGCA	0.692													-	89775777	G	-	89775777	7	5	274	1	0	1	0	1	0	0	0	0	1828	1335	47	0	456	0	C16orf7	16	89775777	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	424628	89775777	578976	1344	140650											
MNT	4335	broad.mit.edu	37	chr17	2290499	2290499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggggggtgtggcaggcGccagttgcaccgcagggctg	19	10	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:2290499G>A	uc002fur.2	-	6	1697	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	482					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			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGTGGCAGGCGCCAGTTGCAC	0.677													A	2290499	G	A	2290499	3	1	274	1	0	0	0	0	1	0	0	0	9678	1087	38	1	307	1	MNT	17	2290499	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		2290499	78904711	1345	140651											
OR3A3	8392	broad.mit.edu	37	chr17	3324785	3324785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatactgatgttcagggCgctctgtgtcagctacttgt	11	8	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:3324785C>T	uc010vrd.1	+	1	924	c.924C>T	c.(922-924)GGC>GGT	p.G308G		NM_012373	NP_036505	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGTTCAGGGCGCTCTGTGTC	0.483													T	3324785	C	T	3324785	2	4	274	1	0	0	0	0	0	0	0	1	11039	755	27	1		1	OR3A3	17	3324785	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1034286	3324785	77870425	1346	140652											
NUP88	4927	broad.mit.edu	37	chr17	5322707	5322707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgggctcttcgccgccGccgctggggccccgaaggcg	18	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:5322707G>A	uc002gbo.1	-	1	290	c.264C>T	c.(262-264)GGC>GGT	p.G88G	NUP88_uc010vsx.1_Silent_p.G88G|NUP88_uc010cle.1_Silent_p.G88G|NUP88_uc010vsy.1_Silent_p.G88G|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	88					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CTTCGCCGCCGCCGCTGGGGC	0.602													A	5322707	G	A	5322707	2	1	274	1	0	0	0	0	0	0	0	1	10771	1074	38	1		1	NUP88	17	5322707	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1997922	5322707	75872503	1347	140653											
PITPNM3	83394	broad.mit.edu	37	chr17	6358773	6358773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgctcgggcttggggttgGcggcgggcgggtcgggctgc	22	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:6358773G>T	uc002gdd.3	-	20	2961	c.2810C>A	c.(2809-2811)GCC>GAC	p.A937D	PITPNM3_uc010cln.2_Missense_Mutation_p.A901D|PITPNM3_uc010clm.2_Missense_Mutation_p.A420D|PITPNM3_uc002gdc.3_Missense_Mutation_p.A528D	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	937					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTTGGGGTTGGCGGCGGGCGG	0.721													T	6358773	G	T	6358773	3	4	274	1	0	0	0	0	1	0	0	0	11952	1203	42	5	118	5	PITPNM3	17	6358773	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1036066	6358773	74836437	1348	140654											
PITPNM3	83394	broad.mit.edu	37	chr17	6371655	6371655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttcacgctctcatagcGcattacctagccaagagccg	9	13	2	1	rs150769456		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:6371655G>A	uc002gdd.3	-	14	1931	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	PITPNM3_uc010cln.2_Missense_Mutation_p.R558C|PITPNM3_uc010clm.2_Missense_Mutation_p.R77C|PITPNM3_uc002gdc.3_Missense_Mutation_p.R185C	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	594	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTCTCATAGCGCATTACCTAG	0.627													A	6371655	G	A	6371655	3	1	274	1	0	0	0	0	1	0	0	0	11952	1087	38	1	1172	1	PITPNM3	17	6371655	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	12882	6371655	74823555	1349	140655											
ZBTB4	57659	broad.mit.edu	37	chr17	7369233	7369233	+	Frame_Shift_Del	DEL	G	G	-													accaccttcaccacgtgctcGgggccccctcggaagcccac					rs148445568		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:7369233delG	uc002ghc.3	-	3	1138	c.888delC	c.(886-888)CCCfs	p.P296fs	ZBTB4_uc002ghd.3_Frame_Shift_Del_p.P296fs	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCACGTGCTCGGGGCCCCCTC	0.687													-	7369233	G	-	7369233	7	5	274	1	0	1	0	1	0	0	0	0	17538	1103	39	0	2161	0	ZBTB4	17	7369233	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	997578	7369233	73825977	1350	140656											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-													ttccactcggataagatgctGaggaggggccagacctaaga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:7578275_7578277delGAG	uc002gim.2	-	6	766_768	c.572_574delCTC	c.(571-576)CCTCAG>CAG	p.P191del	TP53_uc002gig.1_In_Frame_Del_p.P191del|TP53_uc002gih.2_In_Frame_Del_p.P191del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.P59del|TP53_uc010cng.1_In_Frame_Del_p.P59del|TP53_uc002gii.1_In_Frame_Del_p.P59del|TP53_uc010cnh.1_In_Frame_Del_p.P191del|TP53_uc010cni.1_In_Frame_Del_p.P191del|TP53_uc002gij.2_In_Frame_Del_p.P191del|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_In_Frame_Del_p.P98del|TP53_uc002gio.2_In_Frame_Del_p.P59del|TP53_uc010vug.1_In_Frame_Del_p.P152del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	191	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(64)|p.0?(7)|p.P191del(5)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*56(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.P191S(2)|p.G187fs*16(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191H(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P191P(1)|p.P191T(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		ATAAGATGCTGAGGAGGGGCCAG	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7578277	GAG	-	7578275	7	5	274	1	0	1	0	1	0	0	0	0	16378	1299	45	0	720	0	TP53	17	7578275	In_Frame_Del	DEL	GAG	TCGA-HU-A4GU-01A-11D-A25D-08	209042	7578275	73616935	1351	140657											
CCDC42	146849	broad.mit.edu	37	chr17	8638559	8638559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggtgttctggatgtgcGcccagcgagattcctggaga	15	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:8638559G>A	uc002gln.2	-	6	955	c.728C>T	c.(727-729)GCG>GTG	p.A243V	CCDC42_uc002glo.2_Missense_Mutation_p.A169V	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	243										ovary(1)	1						CTGGATGTGCGCCCAGCGAGA	0.468													A	8638559	G	A	8638559	3	1	274	1	0	0	0	0	1	0	0	0	2814	1087	38	1	230	1	CCDC42	17	8638559	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1060284	8638559	72556651	1352	140658											
MYH3	4621	broad.mit.edu	37	chr17	10543508	10543508	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagagtttcatccaGggccagtgcttgacgttcat	11	8	2	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:10543508G>T	uc002gmq.1	-	21	2564	c.2487C>A	c.(2485-2487)CCC>CCA	p.P829P		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	829					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GTTTCATCCAGGGCCAGTGCT	0.458													T	10543508	G	T	10543508	2	4	274	1	0	0	0	0	0	0	0	1	10036	987	35	5		5	MYH3	17	10543508	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1904949	10543508	70651702	1353	140659											
CDRT4	284040	broad.mit.edu	37	chr17	15341239	15341239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccaataccgaataagCgccccacattgataacgtgg	9	12	0	1	rs146969230	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:15341239C>T	uc002gop.1	-	4	588	c.307G>A	c.(307-309)GCT>ACT	p.A103T	CDRT4_uc010vvw.1_3'UTR	NM_173622	NP_775893	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	103											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		ACCGAATAAGCGCCCCACATT	0.483													T	15341239	C	T	15341239	3	4	274	1	0	0	0	0	1	0	0	0	3176	768	27	1	152	1	CDRT4	17	15341239	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4797731	15341239	65853971	1354	140660											
TRPV2	51393	broad.mit.edu	37	chr17	16326788	16326788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttggcctgcaggtgagCtacccctctctttggccgct	10	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:16326788C>A	uc002gpy.2	+	5	998	c.631C>A	c.(631-633)CTA>ATA	p.L211I	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	211	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAGGTGAGCTACCCCTCTC	0.607													A	16326788	C	A	16326788	3	1	274	1	0	0	0	0	1	0	0	0	16593	796	28	5	645	5	TRPV2	17	16326788	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	985549	16326788	64868422	1355	140661											
RAI1	10743	broad.mit.edu	37	chr17	17696630	17696630	+	Frame_Shift_Del	DEL	C	C	-													gagccttcaggcttggggggCcccacagccaccacccccac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:17696630delC	uc002grm.2	+	3	837	c.368delC	c.(367-369)GCCfs	p.A123fs	RAI1_uc002grn.1_Frame_Shift_Del_p.A123fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	123						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCTTGGGGGGCCCCACAGCCA	0.657													-	17696630	C	-	17696630	7	5	274	1	0	1	0	1	0	0	0	0	13007	739	26	0	370	0	RAI1	17	17696630	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1369842	17696630	63498580	1356	140662											
CYTSB	92521	broad.mit.edu	37	chr17	20149379	20149379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcatttgacttgggacGcccaggtatttaatcatttt	8	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:20149379G>A	uc002gwq.2	+	8	2637	c.2492G>A	c.(2491-2493)CGC>CAC	p.R831H	CYTSB_uc002gws.2_Missense_Mutation_p.R831H|CYTSB_uc002gwv.2_Missense_Mutation_p.R750H|CYTSB_uc010vzf.1_Missense_Mutation_p.R171H|CYTSB_uc002gww.2_Missense_Mutation_p.R607H	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	831				R -> G (in Ref. 2; AAW30000/AAW30002).		nucleus					0						GACTTGGGACGCCCAGGTATT	0.473													A	20149379	G	A	20149379	3	1	274	1	0	0	0	0	1	0	0	0	4210	1087	38	1	2588	1	CYTSB	17	20149379	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2452749	20149379	61045831	1357	140663											
SEBOX	645832	broad.mit.edu	37	chr17	26691501	26691501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcgacacactgaggtgCgctgaggtgtgccgctggag	16	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:26691501C>T	uc010wai.1	-	3	454	c.440G>A	c.(439-441)CGC>CAC	p.R147H	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Missense_Mutation_p.R146H|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	147					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CACTGAGGTGCGCTGAGGTGT	0.637													T	26691501	C	T	26691501	3	4	274	1	0	0	0	0	1	0	0	0	13977	768	27	1	214	1	SEBOX	17	26691501	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6542122	26691501	54503709	1358	140664											
VTN	7448	broad.mit.edu	37	chr17	26696033	26696033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacaccatcctcaaagCgccagtactgactaccctaa	6	16	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:26696033C>T	uc002hbc.2	-	5	835	c.686G>A	c.(685-687)CGC>CAC	p.R229H	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	229	Hemopexin-like 2.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ATCCTCAAAGCGCCAGTACTG	0.597													T	26696033	C	T	26696033	3	4	274	1	0	0	0	0	1	0	0	0	17234	768	27	1	766	1	VTN	17	26696033	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4532	26696033	54499177	1359	140665											
SUPT6H	6830	broad.mit.edu	37	chr17	27024691	27024691	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtccagcccatggcatcCtttgcccgggaccttctgaa	9	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27024691C>A	uc002hby.2	+	31	4353	c.4263C>A	c.(4261-4263)TCC>TCA	p.S1421S	SUPT6H_uc010crt.2_Silent_p.S1421S	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1421	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CCATGGCATCCTTTGCCCGGG	0.522													A	27024691	C	A	27024691	2	1	274	1	0	0	0	0	0	0	0	1	15397	668	24	5		5	SUPT6H	17	27024691	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	328658	27024691	54170519	1360	140666											
NUFIP2	57532	broad.mit.edu	37	chr17	27614007	27614007	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgggggtggtttaaatagGgtccacgagtcctctttgga	14	7	1	0	rs141446231		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27614007G>C	uc002hdy.3	-	2	1094	c.1005C>G	c.(1003-1005)ACC>ACG	p.T335T	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	335						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GTTTAAATAGGGTCCACGAGT	0.418													C	27614007	G	C	27614007	2	2	274	1	0	0	0	0	0	0	0	1	10749	1219	43	5		5	NUFIP2	17	27614007	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	589316	27614007	53581203	1361	140667											
TP53I13	90313	broad.mit.edu	37	chr17	27899268	27899268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaagaggcggaggctgCgggctgcccttggtccccag	17	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27899268C>T	uc002hee.2	+	6	660	c.622C>T	c.(622-624)CGG>TGG	p.R208W		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	208	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		GCGGAGGCTGCGGGCTGCCCT	0.662													T	27899268	C	T	27899268	3	4	274	1	0	0	0	0	1	0	0	0	16383	759	27	1	644	1	TP53I13	17	27899268	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	285261	27899268	53295942	1362	140668											
GIT1	28964	broad.mit.edu	37	chr17	27903134	27903134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgcactgaatagatggCgtcgtcctctagctcctggg	13	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27903134C>T	uc002hef.2	-	15	1841	c.1627G>A	c.(1627-1629)GCC>ACC	p.A543T	GIT1_uc002heg.2_Missense_Mutation_p.A552T|GIT1_uc010wbg.1_Missense_Mutation_p.A552T|GIT1_uc010csb.1_Missense_Mutation_p.A543T	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	543					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				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GAATAGATGGCGTCGTCCTCT	0.612													T	27903134	C	T	27903134	3	4	274	1	0	0	0	0	1	0	0	0	6396	768	27	1	682	1	GIT1	17	27903134	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3866	27903134	53292076	1363	140669											
SSH2	85464	broad.mit.edu	37	chr17	27963291	27963291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgactcaggatcaggggAcatgggggggtctttcagtg	18	6	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:27963291A>G	uc002heo.1	-	14	1876	c.1876T>C	c.(1876-1878)TCC>CCC	p.S626P	SSH2_uc010wbh.1_Missense_Mutation_p.S653P	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	626					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			skin(2)	2						GGATCAGGGGACATGGGGGGG	0.473													G	27963291	A	G	27963291	3	3	274	1	0	0	0	0	1	0	0	0	15184	275	10	3	2403	3	SSH2	17	27963291	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	60157	27963291	53231919	1364	140670											
EFCAB5	374786	broad.mit.edu	37	chr17	28419105	28419105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcgtgacatcctgaaggCggttatcttgttctttcatc	10	9	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:28419105C>T	uc002het.2	+	21	4346	c.4154C>T	c.(4153-4155)GCG>GTG	p.A1385V	EFCAB5_uc010cse.2_Missense_Mutation_p.A1140V|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1385							calcium ion binding			ovary(1)|skin(1)	2						ATCCTGAAGGCGGTTATCTTG	0.378													T	28419105	C	T	28419105	3	4	274	1	0	0	0	0	1	0	0	0	4938	768	27	1	4403	1	EFCAB5	17	28419105	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	455814	28419105	52776105	1365	140671											
CPD	1362	broad.mit.edu	37	chr17	28706682	28706683	+	Frame_Shift_Ins	INS	-	-	C													accagtttagcaccggcgaaINSccccccgccctggacgaggt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:28706682_28706683insC	uc002hfb.1	+	1	699_700	c.684_685insC	c.(682-687)GAACCCfs	p.E228fs	CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	228_229	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GCACCGGCGAACCCCCCGCCCT	0.703													C	28706683	-	C	28706682	7	5	274	1	0	1	1	0	0	0	0	0	3798	40	2	0	686	0	CPD	17	28706682	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	287577	28706682	52488528	1366	140672	753	2									
CPD	1362	broad.mit.edu	37	chr17	28706683	28706684	+	Frame_Shift_Ins	INS	-	-	C													ccagtttagcaccggcgaacINScccccgccctggacgaggtg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:28706682_28706683A>AC	uc002hfb.2	+	0	741_742	c.684_685A>AC	c.(682-687)gaacccfs	p.E228fs	CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	228	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCACCGGCGAACCCCCCGCCCT	0.703													C	28706684	-	C	28706683	7	5	274	1	0	1	1	0	0	0	0	0	3798	507	18	0	687	0	CPD	17	28706683	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1	28706683	52488527	1367	140673	753	2									
NF1	4763	broad.mit.edu	37	chr17	29654702	29654702	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcaccaggagtgtgaAgccattgtccagtctatcat	9	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:29654702A>G	uc002hgg.2	+	38	5787	c.5454A>G	c.(5452-5454)GAA>GAG	p.E1818E	NF1_uc002hgh.2_Silent_p.E1797E|NF1_uc002hgi.1_Silent_p.E830E|NF1_uc010cso.2_Silent_p.E6E	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1818					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.H1814fs*43(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		AGGAGTGTGAAGCCATTGTCC	0.512			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)			G	29654702	A	G	29654702	2	3	274	1	0	0	0	0	0	0	0	1	10356	69	3	3		3	NF1	17	29654702	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	948019	29654702	51540508	1368	140674											
ACCN1	40	broad.mit.edu	37	chr17	31343004	31343004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccacattctcatcgtgGctcccttcgtcctcctcttt	4	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:31343004G>A	uc002hhu.2	-	9	1696	c.1422C>T	c.(1420-1422)AGC>AGT	p.S474S	ACCN1_uc002hht.2_Silent_p.S525S	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	474	Cytoplasmic (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	TCTCATCGTGGCTCCCTTCGT	0.542													A	31343004	G	A	31343004	2	1	274	1	0	0	0	0	0	0	0	1	128	1194	42	2		2	ACCN1	17	31343004	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1688302	31343004	49852206	1369	140675											
ACCN1	40	broad.mit.edu	37	chr17	31348260	31348260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggcagcaacttcatacGccttcttctgttcaattgtc	7	11	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:31348260G>A	uc002hhu.2	-	7	1539	c.1265C>T	c.(1264-1266)GCG>GTG	p.A422V	ACCN1_uc002hht.2_Missense_Mutation_p.A473V	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	422	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	AACTTCATACGCCTTCTTCTG	0.403													A	31348260	G	A	31348260	3	1	274	1	0	0	0	0	1	0	0	0	128	1087	38	1	289	1	ACCN1	17	31348260	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5256	31348260	49846950	1370	140676											
LIG3	3980	broad.mit.edu	37	chr17	33319550	33319550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccccttggcaggttagacGcccttgaccccaatgcctat	8	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:33319550G>A	uc002hik.1	+	8	1402	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T	LIG3_uc002hij.2_Missense_Mutation_p.A432T|LIG3_uc010cth.1_Missense_Mutation_p.A441T	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	432					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			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	CAGGTTAGACGCCCTTGACCC	0.542								Other_BER_factors					A	33319550	G	A	33319550	3	1	274	1	0	0	0	0	1	0	0	0	8782	1087	38	1	1320	1	LIG3	17	33319550	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1971290	33319550	47875660	1371	140677											
GGNBP2	79893	broad.mit.edu	37	chr17	34935676	34935676	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattattcccttttataggCgaagagaaaggcatgcaaag	10	6	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:34935676C>T	uc002hnb.2	+	8	1096	c.847C>T	c.(847-849)CGA>TGA	p.R283*	GGNBP2_uc002hna.2_Nonsense_Mutation_p.R283*|GGNBP2_uc002hnc.1_Nonsense_Mutation_p.R112*	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	283					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CTTTTATAGGCGAAGAGAAAG	0.378													T	34935676	C	T	34935676	4	4	274	1	0	0	0	0	0	1	0	0	6359	782	27	1	873	1	GGNBP2	17	34935676	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1616126	34935676	46259534	1372	140678											
DDX52	11056	broad.mit.edu	37	chr17	35992179	35992179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcttgcatttggattggCgtaggcatttggaaacctgc	13	7	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:35992179C>T	uc002hoi.1	-	4	605	c.567G>A	c.(565-567)ACG>ACA	p.T189T	DDX52_uc002hoh.1_Silent_p.T81T|DDX52_uc002hoj.1_Silent_p.T97T	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	189	Q motif.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGATTGGCGTAGGCATTT	0.343													T	35992179	C	T	35992179	2	4	274	1	0	0	0	0	0	0	0	1	4370	755	27	1		1	DDX52	17	35992179	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1056503	35992179	45203031	1373	140679											
SOCS7	30837	broad.mit.edu	37	chr17	36551660	36551660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattccggatacgacagctcGtcaggatagatcacatccca	9	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:36551660G>A	uc002hqa.2	+	8	1711	c.1588G>A	c.(1588-1590)GTC>ATC	p.V530I	SOCS7_uc010cvl.2_Missense_Mutation_p.V496I|SOCS7_uc002hqb.2_Intron	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	530	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					ACGACAGCTCGTCAGGATAGA	0.522													A	36551660	G	A	36551660	3	1	274	1	0	0	0	0	1	0	0	0	14919	1145	40	1	1618	1	SOCS7	17	36551660	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	559481	36551660	44643550	1374	140680											
SRCIN1	80725	broad.mit.edu	37	chr17	36708278	36708278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcatttcgaagtccacGctcttgttgaagtcagtctc	11	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:36708278G>A	uc002hqd.2	-	14	2796	c.2571C>T	c.(2569-2571)AGC>AGT	p.S857S	SRCIN1_uc002hqf.1_Silent_p.S729S|SRCIN1_uc002hqe.2_Silent_p.S711S|SRCIN1_uc002hqg.2_Silent_p.S163S	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	729					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						CGAAGTCCACGCTCTTGTTGA	0.622													A	36708278	G	A	36708278	2	1	274	1	0	0	0	0	0	0	0	1	15135	1078	38	1		1	SRCIN1	17	36708278	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	156618	36708278	44486932	1375	140681											
CACNB1	782	broad.mit.edu	37	chr17	37351142	37351142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctccccattacctggcGgacaaagctgttggatgtgg	12	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:37351142G>A	uc002hrm.1	-	2	319	c.166C>T	c.(166-168)CGC>TGC	p.R56C	CACNB1_uc002hrl.1_5'Flank|CACNB1_uc002hrn.2_Missense_Mutation_p.R56C|CACNB1_uc002hro.2_Missense_Mutation_p.R56C|CACNB1_uc002hrp.1_Missense_Mutation_p.R56C|CACNB1_uc010web.1_5'Flank	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	56					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATTACCTGGCGGACAAAGCTG	0.587													A	37351142	G	A	37351142	3	1	274	1	0	0	0	0	1	0	0	0	2552	1116	39	1	1946	1	CACNB1	17	37351142	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	642864	37351142	43844068	1376	140682											
PNMT	5409	broad.mit.edu	37	chr17	37826571	37826571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcacctatatcatgcctGcccaccttcagacaggcgta	7	16	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:37826571G>A	uc002hsi.1	+	3	1000	c.778G>A	c.(778-780)GCC>ACC	p.A260T		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	260					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|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;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TATCATGCCTGCCCACCTTCA	0.632													A	37826571	G	A	37826571	3	1	274	1	0	0	0	0	1	0	0	0	12159	1319	46	2	788	2	PNMT	17	37826571	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	475429	37826571	43368639	1377	140683											
ZPBP2	124626	broad.mit.edu	37	chr17	38024549	38024549	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggaggtgttgggccaGggctgaggtaggagggagtc	24	4	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38024549G>T	uc002hte.2	+	1	95	c.-58G>T	c.(-60--56)CAGGG>CATGG		ZPBP2_uc002htf.2_Translation_Start_Site	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2 isoform 2						binding of sperm to zona pellucida	extracellular region				ovary(1)	1	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTGGGCCAGGGCTGAGGTA	0.697													T	38024549	G	T	38024549	1	4	274	1	0	0	0	0	0	0	0	0	18217	1015	35	5		5	ZPBP2	17	38024549	Translation_Start_Site	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	197978	38024549	43170661	1378	140684											
NR1D1	9572	broad.mit.edu	37	chr17	38252038	38252038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccagcttgtcatgggCgtaggtgaagatctctcgat	13	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38252038C>T	uc002htz.1	-	5	1533	c.907G>A	c.(907-909)GCC>ACC	p.A303T	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	303					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					TTGTCATGGGCGTAGGTGAAG	0.602													T	38252038	C	T	38252038	3	4	274	1	0	0	0	0	1	0	0	0	10615	768	27	1	953	1	NR1D1	17	38252038	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	227489	38252038	42943172	1379	140685											
CCR7	1236	broad.mit.edu	37	chr17	38711227	38711227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcgatgttgagttgctTactgagctcacaggtgctac	13	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38711227T>C	uc002huw.2	-	3	967	c.904A>G	c.(904-906)AAG>GAG	p.K302E		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	302	Extracellular (Potential).				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)	1		Breast(137;0.000496)				TTGAGTTGCTTACTGAGCTCA	0.572													C	38711227	T	C	38711227	3	2	274	1	0	0	0	0	1	0	0	0	2946	1763	61	3	236	3	CCR7	17	38711227	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	459189	38711227	42483983	1380	140686											
KRT24	192666	broad.mit.edu	37	chr17	38859491	38859491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttgtctaggtaattgGccaagcggtcattgaggttc	12	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38859491G>A	uc002hvd.2	-	1	512	c.455C>T	c.(454-456)GCC>GTC	p.A152V		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	152	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				TAGGTAATTGGCCAAGCGGTC	0.517													A	38859491	G	A	38859491	3	1	274	1	0	0	0	0	1	0	0	0	8461	1203	42	2	1154	2	KRT24	17	38859491	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	148264	38859491	42335719	1381	140687											
KRT24	192666	broad.mit.edu	37	chr17	38859836	38859836	+	Frame_Shift_Del	DEL	C	C	-													ggaagccctgggccgagctgCcccccagaccacatctgctt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38859835_38859835GC>G	uc002hvd.3	-	0	168	c.111_111GC>C	c.(109-111)ggcfs	p.G37fs		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGGCCGAGCTGCCCCCCAGAC	0.662													-	38859836	C	-	38859836	7	5	274	1	0	1	0	1	0	0	0	0	8461	739	26	0	1499	0	KRT24	17	38859836	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	345	38859836	42335374	1382	140688											
KRT27	342574	broad.mit.edu	37	chr17	38938374	38938374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccacggcaagaaccaggTccaaatttctcataccaccc	7	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38938374T>C	uc002hvg.2	-	1	413	c.372A>G	c.(370-372)GGA>GGG	p.G124G		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	124	Rod.|Linker 1.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				AAGAACCAGGTCCAAATTTCT	0.493													C	38938374	T	C	38938374	2	2	274	1	0	0	0	0	0	0	0	1	8464	1654	58	3		3	KRT27	17	38938374	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	78538	38938374	42256836	1383	140689											
KRT28	162605	broad.mit.edu	37	chr17	38953476	38953476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaggtctacccccggggCcgcgttcatctccacgttca	11	17	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:38953476C>T	uc002hvh.1	-	4	814	c.748G>A	c.(748-750)GCC>ACC	p.A250T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	250	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				ACCCCCGGGGCCGCGTTCATC	0.597													T	38953476	C	T	38953476	3	4	274	1	0	0	0	0	1	0	0	0	8465	739	26	2	666	2	KRT28	17	38953476	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	15102	38953476	42241734	1384	140690											
JUP	3728	broad.mit.edu	37	chr17	39923794	39923794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggagcaggttgtgcagcGtggtgatggcatagaacagg	17	6	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:39923794G>A	uc002hxq.2	-	5	1023	c.746C>T	c.(745-747)ACG>ATG	p.T249M	JUP_uc010wfs.1_Missense_Mutation_p.T249M|JUP_uc002hxr.2_Missense_Mutation_p.T249M|JUP_uc002hxs.2_Missense_Mutation_p.T249M	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	249	ARM 2.				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			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GTTGTGCAGCGTGGTGATGGC	0.632													A	39923794	G	A	39923794	3	1	274	1	0	0	0	0	1	0	0	0	7972	1145	40	1	1531	1	JUP	17	39923794	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	970318	39923794	41271416	1385	140691											
KLHL10	317719	broad.mit.edu	37	chr17	40001675	40001675	+	Frame_Shift_Del	DEL	C	C	-													ttacttgtgaggaagagagtCcccgtgcctaccatggggca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40001675delC	uc010cxr.2	+	3	1124	c.982delC	c.(982-984)CCCfs	p.P328fs	KLHL10_uc010wfv.1_Frame_Shift_Del_p.P322fs|KLHL10_uc010wfw.1_Frame_Shift_Del_p.P240fs	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	328	Kelch 1.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GGAAGAGAGTCCCCGTGCCTA	0.498													-	40001675	C	-	40001675	7	5	274	1	0	1	0	1	0	0	0	0	8366	855	30	0	992	0	KLHL10	17	40001675	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	77881	40001675	41193535	1386	140692											
KLHL11	55175	broad.mit.edu	37	chr17	40010749	40010749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgccatgtcctccaatgCtatagagcttccctttgact	7	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40010749C>T	uc002hyf.1	-	2	1376	c.1370G>A	c.(1369-1371)AGC>AAC	p.S457N		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	457	Kelch 3.					extracellular region					0		Breast(137;0.00156)				TCCTCCAATGCTATAGAGCTT	0.383													T	40010749	C	T	40010749	3	4	274	1	0	0	0	0	1	0	0	0	8367	797	28	2	760	2	KLHL11	17	40010749	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	9074	40010749	41184461	1387	140693											
TTC25	83538	broad.mit.edu	37	chr17	40094982	40094982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggaccacaaacgccgTccctcacagacagcccatta	8	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40094982T>C	uc002hyj.3	+	6	887	c.798T>C	c.(796-798)CGT>CGC	p.R266R	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	266						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ACAAACGCCGTCCCTCACAGA	0.562													C	40094982	T	C	40094982	2	2	274	1	0	0	0	0	0	0	0	1	16690	1654	58	3		3	TTC25	17	40094982	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	84233	40094982	41100228	1388	140694											
CNP	1267	broad.mit.edu	37	chr17	40120221	40120221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacacagtggccacgctgCtagagtgcaagacgctcttc	12	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40120221C>A	uc002hyl.1	+	2	283	c.139C>A	c.(139-141)CTA>ATA	p.L47I	CNP_uc002hyk.1_Missense_Mutation_p.L47I|CNP_uc010wfz.1_Missense_Mutation_p.L47I|CNP_uc002hym.1_Missense_Mutation_p.L27I|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	47					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGCCACGCTGCTAGAGTGCAA	0.582													A	40120221	C	A	40120221	3	1	274	1	0	0	0	0	1	0	0	0	3626	796	28	5	145	5	CNP	17	40120221	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	25239	40120221	41074989	1389	140695											
DHX58	79132	broad.mit.edu	37	chr17	40255695	40255695	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgctgccatggcccacaGccaccatgcagttgatgcag	12	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40255695G>T	uc002hyw.3	-	12	1908	c.1685C>A	c.(1684-1686)GCT>GAT	p.A562D	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.A555D	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	562					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGGCCCACAGCCACCATGCA	0.637													T	40255695	G	T	40255695	3	4	274	1	0	0	0	0	1	0	0	0	4514	971	34	5	363	5	DHX58	17	40255695	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	135474	40255695	40939515	1390	140696											
STAT5B	6777	broad.mit.edu	37	chr17	40369449	40369449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtggtactccatgacGcagcagttgttcaagatctc	11	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:40369449G>A	uc002hzh.2	-	10	1372	c.1203C>T	c.(1201-1203)TGC>TGT	p.C401C		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	401					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			ovary(3)|lung(2)|skin(1)	6		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)	ACTCCATGACGCAGCAGTTGT	0.488													A	40369449	G	A	40369449	2	1	274	1	0	0	0	0	0	0	0	1	15268	1079	38	1		1	STAT5B	17	40369449	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	113754	40369449	40825761	1391	140697											
AOC2	314	broad.mit.edu	37	chr17	41002339	41002339	+	Frame_Shift_Del	DEL	C	C	-													cagcctgtgtcccggacttaCcccctttctcttaccacggc					rs34587880		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:41002338_41002338AC>A	uc002ibu.3	+	3	2279	c.2244_2244AC>A	c.(2242-2244)ttafs	p.L748fs	AOC2_uc002ibt.3_Frame_Shift_Del_p.L721fs|AOC3_uc002ibv.3_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	748					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)		TCCCGGACTTACCCCCTTTCT	0.577													-	41002339	C	-	41002339	7	5	274	1	0	1	0	1	0	0	0	0	727	507	18	0	2259	0	AOC2	17	41002339	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	632890	41002339	40192871	1392	140698											
ETV4	2118	broad.mit.edu	37	chr17	41611239	41611239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcacctggagtaaaggCactgctcgccatggtggtag	15	10	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:41611239C>T	uc002idw.2	-	6	499	c.371G>A	c.(370-372)TGC>TAC	p.C124Y	ETV4_uc010wih.1_Missense_Mutation_p.C124Y|ETV4_uc010czh.2_Missense_Mutation_p.C123Y|ETV4_uc010wii.1_Missense_Mutation_p.C85Y|ETV4_uc002idx.2_Missense_Mutation_p.C124Y|ETV4_uc010wij.1_Missense_Mutation_p.C85Y|ETV4_uc002idy.1_Missense_Mutation_p.C85Y	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	124					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGAGTAAAGGCACTGCTCGCC	0.657			T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								T	41611239	C	T	41611239	3	4	274	1	0	0	0	0	1	0	0	0	5281	710	25	2	1115	2	ETV4	17	41611239	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	608900	41611239	39583971	1393	140699											
ITGA2B	3674	broad.mit.edu	37	chr17	42461008	42461008	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaatacacacgccccacttCggccagttttcggtctgccc	7	17	1	0	rs137852910		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:42461008C>A	uc002igt.1	-	12	1095	c.1063G>T	c.(1063-1065)GAA>TAA	p.E355*	ITGA2B_uc002igu.1_5'Flank	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	355	FG-GAP 5.|Extracellular (Potential).		E -> K (in GT; type I; impairs surface expression of alpha-IIb/beta-3).		axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CGCCCCACTTCGGCCAGTTTT	0.632													A	42461008	C	A	42461008	4	1	274	1	0	0	0	0	0	1	0	0	7876	893	31	5	2132	5	ITGA2B	17	42461008	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	849769	42461008	38734202	1394	140700											
PLCD3	113026	broad.mit.edu	37	chr17	43190500	43190500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcccaccattgttgagCacgtagtcagtctcctgccg	11	14	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:43190500C>T	uc002iib.2	-	14	2235	c.2121G>A	c.(2119-2121)GTG>GTA	p.V707V		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	707	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CATTGTTGAGCACGTAGTCAG	0.642													T	43190500	C	T	43190500	2	4	274	1	0	0	0	0	0	0	0	1	12032	697	25	2		2	PLCD3	17	43190500	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	729492	43190500	38004710	1395	140701											
CRHR1	1394	broad.mit.edu	37	chr17	43907506	43907506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactggaacctcatctccGccttcatcctgcgcaacgcc	6	19	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:43907506G>A	uc010dap.2	+	7	833	c.568G>A	c.(568-570)GCC>ACC	p.A190T	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.A60T|CRHR1_uc002ijm.2_Missense_Mutation_p.A161T|CRHR1_uc002ijn.2_Missense_Mutation_p.A121T|CRHR1_uc010dar.2_Missense_Mutation_p.A161T|CRHR1_uc010dao.2_Missense_Mutation_p.A60T|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	190	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTCATCTCCGCCTTCATCCT	0.627													A	43907506	G	A	43907506	3	1	274	1	0	0	0	0	1	0	0	0	3871	1087	38	1	594	1	CRHR1	17	43907506	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	717006	43907506	37287704	1396	140702											
CRHR1	1394	broad.mit.edu	37	chr17	43907524	43907524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccttcatcctgcgcaacGccacctggttcgtggtccag	10	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:43907524G>A	uc010dap.2	+	7	851	c.586G>A	c.(586-588)GCC>ACC	p.A196T	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.A66T|CRHR1_uc002ijm.2_Missense_Mutation_p.A167T|CRHR1_uc002ijn.2_Missense_Mutation_p.A127T|CRHR1_uc010dar.2_Missense_Mutation_p.A167T|CRHR1_uc010dao.2_Missense_Mutation_p.A66T|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	196	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTGCGCAACGCCACCTGGTT	0.627													A	43907524	G	A	43907524	3	1	274	1	0	0	0	0	1	0	0	0	3871	1087	38	1	612	1	CRHR1	17	43907524	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	18	43907524	37287686	1397	140703											
NXPH3	11248	broad.mit.edu	37	chr17	47656170	47656171	+	Frame_Shift_Ins	INS	-	-	C													ccaaccgcccgaaccacagcINScccccaccctcagccaaggt							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:47656169_47656170G>GC	uc002ipa.3	+	1	550_551	c.266_267G>GC	c.(265-267)agcfs	p.S89fs		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	89	III.				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)					CCGAACCACAGCCCCCCACCCT	0.624													C	47656171	-	C	47656170	7	5	274	1	0	1	1	0	0	0	0	0	10792	738	26	0	273	0	NXPH3	17	47656170	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	3748646	47656170	33539040	1398	140704											
TAC4	255061	broad.mit.edu	37	chr17	47918915	47918915	+	Splice_Site	DEL	T	T	-													aggtttgggcaatacttaccTttttttctccttggctggat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552													-	47918915	T	-	47918915	8	5	274	1	0	1	0	1	0	0	1	0	15497	1623	56	0	104	0	TAC4	17	47918915	Splice_Site	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	262745	47918915	33276295	1399	140705											
DLX3	1747	broad.mit.edu	37	chr17	48069204	48069204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttcttgaacttggaacGgcggttctggaaccagattt	12	7	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48069204G>A	uc002ipy.2	-	3	767	c.541C>T	c.(541-543)CGT>TGT	p.R181C		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	181	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AACTTGGAACGGCGGTTCTGG	0.522													A	48069204	G	A	48069204	3	1	274	1	0	0	0	0	1	0	0	0	4572	1116	39	1	326	1	DLX3	17	48069204	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	150289	48069204	33126006	1400	140706											
ITGA3	3675	broad.mit.edu	37	chr17	48148760	48148760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggcaccgacatatgggCgcggtgttcttgctgagcca	13	13	1	1	rs145459787	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48148760C>T	uc010dbl.2	+	6	1301	c.837C>T	c.(835-837)GGC>GGT	p.G279G	ITGA3_uc010dbm.2_Silent_p.G279G	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	279	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						GACATATGGGCGCGGTGTTCT	0.622													T	48148760	C	T	48148760	2	4	274	1	0	0	0	0	0	0	0	1	7877	755	27	1		1	ITGA3	17	48148760	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	79556	48148760	33046450	1401	140707											
PPP1R9B	84687	broad.mit.edu	37	chr17	48218655	48218655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcactcggcccttggtgttcCggagcacagacgccgcgaag	14	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48218655C>A	uc002iqh.3	-	6	1712	c.1709G>T	c.(1708-1710)CGG>CTG	p.R570L		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	568	PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity				0						CTTGGTGTTCCGGAGCACAGA	0.632													A	48218655	C	A	48218655	3	1	274	1	0	0	0	0	1	0	0	0	12379	652	23	5	772	5	PPP1R9B	17	48218655	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	69895	48218655	32976555	1402	140708											
COL1A1	1277	broad.mit.edu	37	chr17	48268238	48268238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagtcagaccacggacGccatctttgccaggagagcc	13	14	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48268238G>A	uc002iqm.2	-	33	2409	c.2283C>T	c.(2281-2283)GGC>GGT	p.G761G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	761	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(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GACCACGGACGCCATCTTTGC	0.587			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						A	48268238	G	A	48268238	2	1	274	1	0	0	0	0	0	0	0	1	3677	1074	38	1		1	COL1A1	17	48268238	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	49583	48268238	32926972	1403	140709											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	274	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	165729	48433967	32761243	1404	140710											
MRPL27	51264	broad.mit.edu	37	chr17	48447421	48447421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgccagcggaaatggCgctgtgttgcaatgatgttc	15	8	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:48447421C>T	uc002iqq.2	-	3	243	c.212G>A	c.(211-213)CGC>CAC	p.R71H	MRPL27_uc002iqr.2_Missense_Mutation_p.R71H	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	71					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			GCGGAAATGGCGCTGTGTTGC	0.512													T	48447421	C	T	48447421	3	4	274	1	0	0	0	0	1	0	0	0	9791	768	27	1	242	1	MRPL27	17	48447421	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	13454	48447421	32747789	1405	140711											
DGKE	8526	broad.mit.edu	37	chr17	54912364	54912364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgacacggacctgttcagcCagcccacctactgctgcgtg	11	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:54912364C>A	uc002iur.2	+	2	388	c.208C>A	c.(208-210)CAG>AAG	p.Q70K	DGKE_uc002ius.1_Missense_Mutation_p.Q70K|C17orf67_uc002iuq.2_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	70	Phorbol-ester/DAG-type 1.				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(2)	2	Breast(9;3.59e-07)					CCTGTTCAGCCAGCCCACCTA	0.682													A	54912364	C	A	54912364	3	1	274	1	0	0	0	0	1	0	0	0	4468	595	21	5	210	5	DGKE	17	54912364	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6464943	54912364	26282846	1406	140712											
C17orf71	55181	broad.mit.edu	37	chr17	57290958	57290958	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagataatactaatgcCtcaggtaagaaatataaccc	6	8	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:57290958C>A	uc002ixi.2	+	3	2816	c.2774C>A	c.(2773-2775)CCT>CAT	p.P925H		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	925					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATACTAATGCCTCAGGTAAGA	0.378													A	57290958	C	A	57290958	3	1	274	1	0	0	0	0	1	0	0	0	1878	681	24	5	2784	5	C17orf71	17	57290958	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2378594	57290958	23904252	1407	140713											
CA4	762	broad.mit.edu	37	chr17	58233957	58233957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaactgccagaaggaccGccagtcccccatcaacatcg	9	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:58233957G>A	uc002iym.3	+	3	243	c.149G>A	c.(148-150)CGC>CAC	p.R50H	CA4_uc010wou.1_RNA	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	50					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				0	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)	CAGAAGGACCGCCAGTCCCCC	0.572													A	58233957	G	A	58233957	3	1	274	1	0	0	0	0	1	0	0	0	2518	1087	38	1	159	1	CA4	17	58233957	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	942999	58233957	22961253	1408	140714											
USP32	84669	broad.mit.edu	37	chr17	58299799	58299799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggccaggtttgctccatAccagtgataaagtgctctcc	9	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:58299799A>G	uc002iyo.1	-	15	2006	c.1720T>C	c.(1720-1722)TAT>CAT	p.Y574H	USP32_uc002iyn.1_Missense_Mutation_p.Y244H	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	574	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTGCTCCATACCAGTGATAA	0.423													G	58299799	A	G	58299799	3	3	274	1	0	0	0	0	1	0	0	0	17060	391	14	3	3174	3	USP32	17	58299799	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	65842	58299799	22895411	1409	140715											
TBX4	9496	broad.mit.edu	37	chr17	59560345	59560346	+	Frame_Shift_Ins	INS	-	-	C													gaggatcactatttccgttcINScccccctccctacgaccagc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:59560344_59560345T>TC	uc010ddo.3	+	8	1271_1272	c.1108_1109T>TC	c.(1108-1110)tccfs	p.S370fs	TBX4_uc002izi.3_Frame_Shift_Ins_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Ins_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P372fs*14(1)		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						CTATTTCCGTTCCCCCCCTCCC	0.574													C	59560346	-	C	59560345	7	5	274	1	0	1	1	0	0	0	0	0	15657	855	30	0	1136	0	TBX4	17	59560345	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1260546	59560345	21634865	1410	140716											
DDX42	11325	broad.mit.edu	37	chr17	61895287	61895287	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgacctacccgtctgcCggagcccaaggagtcaacaa	10	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:61895287C>A	uc002jbu.2	+	19	2603	c.2346C>A	c.(2344-2346)GCC>GCA	p.A782A	DDX42_uc002jbv.2_Silent_p.A782A|DDX42_uc002jbx.2_Silent_p.A518A|DDX42_uc002jby.2_Silent_p.A328A|DDX42_uc010wps.1_Silent_p.A150A	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	782	Gly-rich.|Necessary for interaction with TP53BP2.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						ACCCGTCTGCCGGAGCCCAAG	0.577													A	61895287	C	A	61895287	2	1	274	1	0	0	0	0	0	0	0	1	4362	639	23	5		5	DDX42	17	61895287	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2334942	61895287	19299923	1411	140717											
TEX2	55852	broad.mit.edu	37	chr17	62291475	62291475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccgagaagtgaatggCgatggtatctcgggacacgg	17	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:62291475C>T	uc002jec.2	-	2	276	c.103G>A	c.(103-105)GCC>ACC	p.A35T	TEX2_uc002jed.2_Missense_Mutation_p.A35T|TEX2_uc002jee.2_Missense_Mutation_p.A35T	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	35					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGTGAATGGCGATGGTATCT	0.468													T	62291475	C	T	62291475	3	4	274	1	0	0	0	0	1	0	0	0	15778	768	27	1	3345	1	TEX2	17	62291475	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	396188	62291475	18903735	1412	140718											
CCDC46	201134	broad.mit.edu	37	chr17	63685297	63685297	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattttttctctgcacatcGcacctgattagaacggtttt	6	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:63685297G>A	uc002jfl.2	-	24	2866	c.2647C>T	c.(2647-2649)CGA>TGA	p.R883*	CCDC46_uc010deo.2_Nonsense_Mutation_p.R554*|CCDC46_uc002jfm.2_Nonsense_Mutation_p.R883*|CCDC46_uc010dep.2_Nonsense_Mutation_p.R841*|CCDC46_uc002jfk.2_Nonsense_Mutation_p.R139*	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	883	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			TCTGCACATCGCACCTGATTA	0.338													A	63685297	G	A	63685297	4	1	274	1	0	0	0	0	0	1	0	0	2817	1095	38	1	236	1	CCDC46	17	63685297	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1393822	63685297	17509913	1413	140719											
CCDC46	201134	broad.mit.edu	37	chr17	64049870	64049870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtggactgtgtttgcGccatgtattcactctccatt	8	11	3	0	rs147020220	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64049870G>A	uc002jfl.2	-	12	1421	c.1202C>T	c.(1201-1203)GCG>GTG	p.A401V	CCDC46_uc010deo.2_Missense_Mutation_p.A143V|CCDC46_uc002jfm.2_Missense_Mutation_p.A401V|CCDC46_uc010dep.2_Missense_Mutation_p.A359V	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	401	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CTGTGTTTGCGCCATGTATTC	0.398													A	64049870	G	A	64049870	3	1	274	1	0	0	0	0	1	0	0	0	2817	1087	38	1	1895	1	CCDC46	17	64049870	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	364573	64049870	17145340	1414	140720											
PRKCA	5578	broad.mit.edu	37	chr17	64770155	64770155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggactggtgggcctatggCgtcctgttgtatgaaatgct	15	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64770155C>T	uc002jfp.1	+	14	1619	c.1575C>T	c.(1573-1575)GGC>GGT	p.G525G	PRKCA_uc002jfo.1_Silent_p.G396G	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	525	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			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGGCCTATGGCGTCCTGTTGT	0.428													T	64770155	C	T	64770155	2	4	274	1	0	0	0	0	0	0	0	1	12507	755	27	1		1	PRKCA	17	64770155	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	720285	64770155	16425055	1415	140721											
CACNG5	27091	broad.mit.edu	37	chr17	64873620	64873620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatgtccctgcactcagGcctctggcgggtctgcttcc	11	15	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64873620G>A	uc010wqi.1	+	2	407	c.170G>A	c.(169-171)GGC>GAC	p.G57D	CACNG5_uc002jfr.2_Missense_Mutation_p.G57D|CACNG5_uc010wqj.1_Missense_Mutation_p.G57D	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	57					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTGCACTCAGGCCTCTGGCGG	0.627													A	64873620	G	A	64873620	3	1	274	1	0	0	0	0	1	0	0	0	2560	1203	42	2	172	2	CACNG5	17	64873620	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	103465	64873620	16321590	1416	140722											
CACNG5	27091	broad.mit.edu	37	chr17	64875104	64875104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggtgaggagcgggggCgttgcttcaccatagaatat	14	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:64875104C>T	uc010wqi.1	+	3	448	c.211C>T	c.(211-213)CGT>TGT	p.R71C	CACNG5_uc002jfr.2_Missense_Mutation_p.R71C|CACNG5_uc010wqj.1_Missense_Mutation_p.R71C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	71					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGAGCGGGGGCGTTGCTTCAC	0.483													T	64875104	C	T	64875104	3	4	274	1	0	0	0	0	1	0	0	0	2560	768	27	1	217	1	CACNG5	17	64875104	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1484	64875104	16320106	1417	140723											
BPTF	2186	broad.mit.edu	37	chr17	65928070	65928070	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccctggtatgaccgtgattaGaacaccactccaacagtcaa	7	13	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:65928070G>C	uc002jgf.2	+	18	6255	c.6194G>C	c.(6193-6195)AGA>ACA	p.R2065T	BPTF_uc002jge.2_Missense_Mutation_p.R2191T	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2191					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			ovary(2)|skin(2)	4	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)			ACCGTGATTAGAACACCACTC	0.373													C	65928070	G	C	65928070	3	2	274	1	0	0	0	0	1	0	0	0	1495	942	33	5	6650	5	BPTF	17	65928070	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1052966	65928070	15267140	1418	140724											
ARSG	22901	broad.mit.edu	37	chr17	66391272	66391272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccagcttacctcaaggaCggcgctttgatggtgtggac	14	10	1	1	rs150072981		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:66391272C>T	uc002jhc.2	+	10	1946	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	ARSG_uc002jhb.1_Missense_Mutation_p.R220W	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	384					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCTCAAGGACGGCGCTTTGA	0.567													T	66391272	C	T	66391272	3	4	274	1	0	0	0	0	1	0	0	0	992	527	19	1	1184	1	ARSG	17	66391272	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	463202	66391272	14803938	1419	140725											
ABCA5	23461	broad.mit.edu	37	chr17	67256528	67256528	+	Frame_Shift_Del	DEL	T	T	-													atggattataggtgtccacaTtttttcgtacattcttccaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:67256527_67256527AT>A	uc002jif.2	-	25	4809	c.3591_3591AT>T	c.(3589-3591)aatfs	p.N1197fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.N163fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.N420fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.N114fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.N1197fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1197					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)					AGGTGTCCACATTTTTTCGTA	0.299													-	67256528	T	-	67256528	7	5	274	1	0	1	0	1	0	0	0	0	35	1493	52	0	1390	0	ABCA5	17	67256528	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	865256	67256528	13938682	1420	140726											
CD300LB	124599	broad.mit.edu	37	chr17	72521981	72521981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcatctcgcctgagcccCtccatggtcacagtgaacgt	10	15	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:72521981C>A	uc002jkx.2	-	2	400	c.387G>T	c.(385-387)GAG>GAT	p.E129D	CD300LB_uc010wqz.1_Missense_Mutation_p.E129D	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	92	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						GCCTGAGCCCCTCCATGGTCA	0.512													A	72521981	C	A	72521981	3	1	274	1	0	0	0	0	1	0	0	0	2999	680	24	5	341	5	CD300LB	17	72521981	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	5265453	72521981	8673229	1421	140727											
SLC25A19	60386	broad.mit.edu	37	chr17	73274291	73274291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcttcaaggagctgtaGcaagagaactgcagcccggc	14	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:73274291G>A	uc002jns.3	-	4	1495	c.585C>T	c.(583-585)TGC>TGT	p.C195C	SLC25A19_uc010dge.2_Silent_p.C138C|SLC25A19_uc002jnv.3_Silent_p.C195C|SLC25A19_uc002jnu.3_Silent_p.C195C|SLC25A19_uc002jnw.3_Silent_p.C195C|SLC25A19_uc002jnt.3_Silent_p.C195C	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	195	Solcar 2.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	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)			AGGAGCTGTAGCAAGAGAACT	0.582													A	73274291	G	A	73274291	2	1	274	1	0	0	0	0	0	0	0	1	14481	963	34	2		2	SLC25A19	17	73274291	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	752310	73274291	7920919	1422	140728											
KIAA0195	9772	broad.mit.edu	37	chr17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-													gacatgcctggctccgagatCcccccctccagccccagcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					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)			GGCTCCGAGATCCCCCCCTCC	0.612													-	73491063	C	-	73491063	7	5	274	1	0	1	0	1	0	0	0	0	8160	845	30	0	2750	0	KIAA0195	17	73491063	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	216772	73491063	7704147	1423	140729											
ITGB4	3691	broad.mit.edu	37	chr17	73727940	73727940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagcacgtggatgggacGcacgtgtgccagctgccgga	16	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:73727940G>A	uc002jpg.2	+	11	1450	c.1263G>A	c.(1261-1263)ACG>ACA	p.T421T	ITGB4_uc002jph.2_Silent_p.T421T|ITGB4_uc010dgo.2_Silent_p.T421T|ITGB4_uc002jpi.3_Silent_p.T421T|ITGB4_uc010dgp.1_Silent_p.T421T|ITGB4_uc002jpj.2_Silent_p.T421T|ITGB4_uc010wsh.1_5'UTR	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	421	Extracellular (Potential).				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			lung(4)	4	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)			TGGATGGGACGCACGTGTGCC	0.637													A	73727940	G	A	73727940	2	1	274	1	0	0	0	0	0	0	0	1	7897	1074	38	1		1	ITGB4	17	73727940	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	236877	73727940	7467270	1424	140730											
EVPL	2125	broad.mit.edu	37	chr17	74013833	74013833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctcatggctgtggAtgcggccctccaagtcctcc	9	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74013833A>G	uc002jqi.2	-	14	1925	c.1697T>C	c.(1696-1698)ATC>ACC	p.I566T	EVPL_uc010wss.1_Missense_Mutation_p.I588T|EVPL_uc010wst.1_Missense_Mutation_p.I36T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	566	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						ATGGCTGTGGATGCGGCCCTC	0.687													G	74013833	A	G	74013833	3	3	274	1	0	0	0	0	1	0	0	0	5292	333	12	3	4440	3	EVPL	17	74013833	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	285893	74013833	7181377	1425	140731											
SRP68	6730	broad.mit.edu	37	chr17	74060139	74060139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatgcttcacggctttgCgtaggcgagataacaagtga	12	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74060139C>T	uc002jqk.1	-	4	514	c.479G>A	c.(478-480)CGC>CAC	p.R160H	SRP68_uc010wsu.1_Missense_Mutation_p.R59H|SRP68_uc002jql.1_Missense_Mutation_p.R122H	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	160					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						CACGGCTTTGCGTAGGCGAGA	0.502													T	74060139	C	T	74060139	3	4	274	1	0	0	0	0	1	0	0	0	15155	768	27	1	1456	1	SRP68	17	74060139	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	46306	74060139	7135071	1426	140732											
ZACN	353174	broad.mit.edu	37	chr17	74077461	74077461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtcccaccccagcagcTggtgccctgcttccaggtga	10	17	0	1	rs147360559	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74077461T>C	uc002jqn.2	+	6	730	c.647T>C	c.(646-648)CTG>CCG	p.L216P	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	216	Extracellular (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						CCCCAGCAGCTGGTGCCCTGC	0.597													C	74077461	T	C	74077461	3	2	274	1	0	0	0	0	1	0	0	0	17507	1580	55	3	669	3	ZACN	17	74077461	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	17322	74077461	7117749	1427	140733											
UBE2O	63893	broad.mit.edu	37	chr17	74394386	74394386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtattgccgatgcggatgaCgatgtcagttgtacggaacc	13	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74394386C>T	uc002jrm.3	-	12	2040	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	UBE2O_uc002jrn.3_Missense_Mutation_p.V659I|UBE2O_uc002jrl.3_Missense_Mutation_p.V262I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	659							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ATGCGGATGACGATGTCAGTT	0.522											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74394386	C	T	74394386	3	4	274	1	0	0	0	0	1	0	0	0	16865	536	19	1	1931	1	UBE2O	17	74394386	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	316925	74394386	6800824	1428	140734											
JMJD6	23210	broad.mit.edu	37	chr17	74721697	74721697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggggactatcatctcgagTgctctccatgtactcgatgt	10	10	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74721697T>C	uc002jso.2	-	2	694	c.370A>G	c.(370-372)ACT>GCT	p.T124A	JMJD6_uc002jsn.1_Missense_Mutation_p.T124A|JMJD6_uc010dgz.2_Missense_Mutation_p.T124A|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	124					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						TCATCTCGAGTGCTCTCCATG	0.413													C	74721697	T	C	74721697	3	2	274	1	0	0	0	0	1	0	0	0	7953	1696	59	3	902	3	JMJD6	17	74721697	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	327311	74721697	6473513	1429	140735											
MGAT5B	146664	broad.mit.edu	37	chr17	74928844	74928844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgtacggcaaggaggCgagcatctggaaggtgagcg	19	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74928844C>T	uc002jti.2	+	10	1545	c.1442C>T	c.(1441-1443)GCG>GTG	p.A481V	MGAT5B_uc002jth.2_Missense_Mutation_p.A470V	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	470	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						GGCAAGGAGGCGAGCATCTGG	0.667													T	74928844	C	T	74928844	3	4	274	1	0	0	0	0	1	0	0	0	9549	768	27	1	1552	1	MGAT5B	17	74928844	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	207147	74928844	6266366	1430	140736											
MGAT5B	146664	broad.mit.edu	37	chr17	74936520	74936520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccctacgagggccccGcccccctggaggccatcgcc	11	21	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:74936520G>A	uc002jti.2	+	12	1751	c.1648G>A	c.(1648-1650)GCC>ACC	p.A550T	MGAT5B_uc002jth.2_Missense_Mutation_p.A539T	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	541	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						CGAGGGCCCCGCCCCCCTGGA	0.657													A	74936520	G	A	74936520	3	1	274	1	0	0	0	0	1	0	0	0	9549	1087	38	1	1766	1	MGAT5B	17	74936520	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	7676	74936520	6258690	1431	140737											
ENGASE	64772	broad.mit.edu	37	chr17	77079993	77079993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagctccctgctcgtcCggggtgtgatcccaccggag	15	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:77079993C>T	uc002jwv.2	+	10	1410	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	ENGASE_uc002jww.2_Missense_Mutation_p.R174W	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	468						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						CCTGCTCGTCCGGGGTGTGAT	0.652													T	77079993	C	T	77079993	3	4	274	1	0	0	0	0	1	0	0	0	5118	643	23	1	1440	1	ENGASE	17	77079993	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2143473	77079993	4115217	1432	140738											
ENPP7	339221	broad.mit.edu	37	chr17	77708929	77708929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccggaaagaaggcatcGcacacaactacaaaaatgag	11	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:77708929G>A	uc002jxa.2	+	3	507	c.487G>A	c.(487-489)GCA>ACA	p.A163T		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	163					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGAAGGCATCGCACACAACTA	0.587													A	77708929	G	A	77708929	3	1	274	1	0	0	0	0	1	0	0	0	5135	1087	38	1	497	1	ENPP7	17	77708929	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	628936	77708929	3486281	1433	140739											
CARD14	79092	broad.mit.edu	37	chr17	78169019	78169019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcggacctgagtgccacGtccagccgcgagctggtgga	15	12	0	1	rs146882682		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:78169019G>A	uc002jxw.1	+	10	1581	c.1386G>A	c.(1384-1386)ACG>ACA	p.T462T	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.T462T|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.T225T|CARD14_uc010dhu.1_Silent_p.T260T	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	462					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGAGTGCCACGTCCAGCCGCG	0.672													A	78169019	G	A	78169019	2	1	274	1	0	0	0	0	0	0	0	1	2646	1132	40	1		1	CARD14	17	78169019	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	460090	78169019	3026191	1434	140740											
CARD14	79092	broad.mit.edu	37	chr17	78169064	78169064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgctccagcagccccgcGccccccagccagcagtccct	8	23	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:78169064G>A	uc002jxw.1	+	10	1626	c.1431G>A	c.(1429-1431)GCG>GCA	p.A477A	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.A477A|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Silent_p.A240A|CARD14_uc010dhu.1_Silent_p.A275A	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	477					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCAGCCCCGCGCCCCCCAGCC	0.657													A	78169064	G	A	78169064	2	1	274	1	0	0	0	0	0	0	0	1	2646	1074	38	1		1	CARD14	17	78169064	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	45	78169064	3026146	1435	140741											
RAC3	5881	broad.mit.edu	37	chr17	79991327	79991327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcagtggtacccggaGgtgcggcaccactgccccca	12	17	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:79991327G>T	uc002kdf.2	+	5	406	c.300G>T	c.(298-300)GAG>GAT	p.E100D		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	100					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				0	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)			GGTACCCGGAGGTGCGGCACC	0.667													T	79991327	G	T	79991327	3	4	274	1	0	0	0	0	1	0	0	0	12976	991	35	5	318	5	RAC3	17	79991327	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1822263	79991327	1203883	1436	140742											
NARF	26502	broad.mit.edu	37	chr17	80426665	80426665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatacctcaaagcacaaagTgctggtagtgtctgtgtgtc	11	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr17:80426665T>C	uc002kfg.3	+	4	418	c.278T>C	c.(277-279)GTG>GCG	p.V93A	NARF_uc002kff.3_Missense_Mutation_p.V34A|NARF_uc010wvo.1_Missense_Mutation_p.V93A|NARF_uc010wvp.1_5'UTR|NARF_uc010dit.2_Missense_Mutation_p.V93A|NARF_uc002kfj.3_Missense_Mutation_p.V45A|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.V93A|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	93						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAGCACAAAGTGCTGGTAGTG	0.378													C	80426665	T	C	80426665	3	2	274	1	0	0	0	0	1	0	0	0	10167	1696	59	3	292	3	NARF	17	80426665	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	435338	80426665	768545	1437	140743											
USP14	9097	broad.mit.edu	37	chr18	196733	196733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggctttcccacagtttgCcgagaaaggtgaacaaggac	11	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:196733C>T	uc002kkf.1	+	7	776	c.560C>T	c.(559-561)GCC>GTC	p.A187V	USP14_uc002kkg.1_Missense_Mutation_p.A152V|USP14_uc010wyr.1_Missense_Mutation_p.A176V	NM_005151	NP_005142	P54578	UBP14_HUMAN	ubiquitin specific protease 14 isoform a	187					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCACAGTTTGCCGAGAAAGGT	0.373													T	196733	C	T	196733	3	4	274	1	0	0	0	0	1	0	0	0	17042	739	26	2	586	2	USP14	18	196733	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		196733	77880515	1438	140744											
CEP192	55125	broad.mit.edu	37	chr18	13049657	13049657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacttttgaaaaccatcGcatagtctcacctaaaaata	5	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:13049657G>A	uc010xac.1	+	16	2947	c.2867G>A	c.(2866-2868)CGC>CAC	p.R956H	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R481H|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.R697H	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	956										ovary(4)|pancreas(1)	5						GAAAACCATCGCATAGTCTCA	0.363													A	13049657	G	A	13049657	3	1	274	1	0	0	0	0	1	0	0	0	3251	1087	38	1	2925	1	CEP192	18	13049657	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	12852924	13049657	65027591	1439	140745											
NPC1	4864	broad.mit.edu	37	chr18	21119843	21119843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgcagcccatgccgccGcacaccatgttctgcccctt	8	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:21119843G>A	uc002kum.3	-	18	3001	c.2727C>T	c.(2725-2727)TGC>TGT	p.C909C	NPC1_uc010xaz.1_Silent_p.C642C|NPC1_uc010xba.1_Silent_p.C754C	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	909					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			ovary(2)	2	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)					CCATGCCGCCGCACACCATGT	0.537													A	21119843	G	A	21119843	2	1	274	1	0	0	0	0	0	0	0	1	10570	1079	38	1		1	NPC1	18	21119843	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8070186	21119843	56957405	1440	140746											
LAMA3	3909	broad.mit.edu	37	chr18	21441734	21441734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcaaccatccacagcgCgtcctgggtcgcacccacct	9	20	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:21441734C>T	uc002kuq.2	+	35	4633	c.4547C>T	c.(4546-4548)GCG>GTG	p.A1516V	LAMA3_uc002kur.2_Missense_Mutation_p.A1516V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1516	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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	ATCCACAGCGCGTCCTGGGTC	0.592													T	21441734	C	T	21441734	3	4	274	1	0	0	0	0	1	0	0	0	8607	768	27	1	4685	1	LAMA3	18	21441734	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	321891	21441734	56635514	1441	140747											
ZNF521	25925	broad.mit.edu	37	chr18	22805650	22805650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttcttttcgttactgtgCttcacagccaagtggagctg	9	10	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:22805650C>A	uc002kvk.2	-	4	2479	c.2232G>T	c.(2230-2232)AAG>AAT	p.K744N	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K744N|ZNF521_uc002kvl.2_Missense_Mutation_p.K524N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	744	C2H2-type 17.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CGTTACTGTGCTTCACAGCCA	0.478			T	PAX5	ALL								A	22805650	C	A	22805650	3	1	274	1	0	0	0	0	1	0	0	0	17962	796	28	5	1723	5	ZNF521	18	22805650	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1363916	22805650	55271598	1442	140748											
ZNF521	25925	broad.mit.edu	37	chr18	22807108	22807108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtttttggaggtcttcCgggaagtcaaagccttcctc	11	9	2	0	rs34187076		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:22807108C>T	uc002kvk.2	-	4	1021	c.774G>A	c.(772-774)CCG>CCA	p.P258P	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.P258P|ZNF521_uc002kvl.2_Silent_p.P38P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	258	C2H2-type 6.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAGGTCTTCCGGGAAGTCAA	0.557			T	PAX5	ALL								T	22807108	C	T	22807108	2	4	274	1	0	0	0	0	0	0	0	1	17962	639	23	1		1	ZNF521	18	22807108	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1458	22807108	55270140	1443	140749											
DSC1	1823	broad.mit.edu	37	chr18	28728576	28728576	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggatattctggtgcataGccatctgcagttgttgcata	11	7	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:28728576G>T	uc002kwn.2	-	6	919	c.657C>A	c.(655-657)GGC>GGA	p.G219G	DSC1_uc002kwm.2_Silent_p.G219G	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	219	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTGGTGCATAGCCATCTGCAG	0.383													T	28728576	G	T	28728576	2	4	274	1	0	0	0	0	0	0	0	1	4765	958	34	5		5	DSC1	18	28728576	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5921468	28728576	49348672	1444	140750											
DSG3	1830	broad.mit.edu	37	chr18	29038476	29038476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgggaatcgatcagccGccttttggaatctttgttgt	13	7	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:29038476G>A	uc002kws.2	+	4	394	c.285G>A	c.(283-285)CCG>CCA	p.P95P		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	95	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCGATCAGCCGCCTTTTGGAA	0.443													A	29038476	G	A	29038476	2	1	274	1	0	0	0	0	0	0	0	1	4778	1074	38	1		1	DSG3	18	29038476	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	309900	29038476	49038772	1445	140751											
DSG2	1829	broad.mit.edu	37	chr18	29121196	29121196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgccattgcggaaagggCgccaaaggctttacccccat	11	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:29121196C>T	uc002kwu.3	+	13	2108	c.1920C>T	c.(1918-1920)GGC>GGT	p.G640G		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	640	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCGGAAAGGGCGCCAAAGGCT	0.433													T	29121196	C	T	29121196	2	4	274	1	0	0	0	0	0	0	0	1	4777	755	27	1		1	DSG2	18	29121196	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	82720	29121196	48956052	1446	140752											
ASXL3	80816	broad.mit.edu	37	chr18	31323069	31323069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagcattgtctctggagCcatgggaagtccaggagagg	16	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:31323069C>T	uc010dmg.1	+	12	3312	c.3257C>T	c.(3256-3258)GCC>GTC	p.A1086V	ASXL3_uc002kxq.2_Missense_Mutation_p.A793V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1086					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GTCTCTGGAGCCATGGGAAGT	0.582													T	31323069	C	T	31323069	3	4	274	1	0	0	0	0	1	0	0	0	1068	739	26	2	3303	2	ASXL3	18	31323069	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2201873	31323069	46754179	1447	140753											
SLC39A6	25800	broad.mit.edu	37	chr18	33694188	33694188	+	Frame_Shift_Del	DEL	T	T	-													tgtgactgtgaggatggtggTtttggtggtggtgatgatgg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:33694188delT	uc010dmy.2	-	7	2005	c.1715delA	c.(1714-1716)AACfs	p.N572fs	SLC39A6_uc002kzj.2_Frame_Shift_Del_p.N297fs	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	572	His-rich.|Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						aggatggtggttttggtggtg	0.323													-	33694188	T	-	33694188	7	5	274	1	0	1	0	1	0	0	0	0	14622	1725	60	0	580	0	SLC39A6	18	33694188	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	2371119	33694188	44383060	1448	140754											
MOCOS	55034	broad.mit.edu	37	chr18	33779654	33779654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcttccagaatcctggCgcacttccacaccaccgcag	7	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:33779654C>T	uc002kzq.3	+	4	331	c.308C>T	c.(307-309)GCG>GTG	p.A103V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	103					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AGAATCCTGGCGCACTTCCAC	0.542													T	33779654	C	T	33779654	3	4	274	1	0	0	0	0	1	0	0	0	9689	768	27	1	322	1	MOCOS	18	33779654	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	85466	33779654	44297594	1449	140755											
FHOD3	80206	broad.mit.edu	37	chr18	34310607	34310607	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attctccttttttatcactaAgaaaactgctgcagatggaa	6	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:34310607A>C	uc002kzt.1	+	16	2939	c.2842_splice	c.e16-2	p.K948_splice	FHOD3_uc002kzs.1_Splice_Site_p.K965_splice|FHOD3_uc010dmz.1_Splice_Site_p.K680_splice|FHOD3_uc010dnb.1_5'Flank	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TTTATCACTAAGAAAACTGCT	0.398													C	34310607	A	C	34310607	5	2	274	1	0	0	0	0	0	0	1	0	5883	86	3	5	2957	5	FHOD3	18	34310607	Splice_Site	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	530953	34310607	43766641	1450	140756											
SETBP1	26040	broad.mit.edu	37	chr18	42281510	42281510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgaactaggctcagggCgggatgtggattccaactcc	14	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:42281510C>T	uc010dni.2	+	2	495	c.199C>T	c.(199-201)CGG>TGG	p.R67W	SETBP1_uc002lay.2_Missense_Mutation_p.R67W	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	67						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGCTCAGGGCGGGATGTGGA	0.562									Schinzel-Giedion_syndrome				T	42281510	C	T	42281510	3	4	274	1	0	0	0	0	1	0	0	0	14129	759	27	1	201	1	SETBP1	18	42281510	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7970903	42281510	35795738	1451	140757											
TCEB3B	51224	broad.mit.edu	37	chr18	44560944	44560944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggggcgtttttcctggCgagacgatttgtgccccttg	13	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:44560944C>T	uc002lcr.1	-	1	1045	c.692G>A	c.(691-693)CGC>CAC	p.R231H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	231					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTTTTCCTGGCGAGACGATTT	0.612													T	44560944	C	T	44560944	3	4	274	1	0	0	0	0	1	0	0	0	15679	768	27	1	1573	1	TCEB3B	18	44560944	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2279434	44560944	33516304	1452	140758											
CCDC68	80323	broad.mit.edu	37	chr18	52585165	52585165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttcaagtatgttaacCttttctctgagattttcaat	7	7	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:52585165C>A	uc002lfs.2	-	10	1024	c.852G>T	c.(850-852)AAG>AAT	p.K284N	CCDC68_uc002lft.2_Missense_Mutation_p.K284N	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	284	Potential.									skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GTATGTTAACCTTTTCTCTGA	0.244													A	52585165	C	A	52585165	3	1	274	1	0	0	0	0	1	0	0	0	2840	680	24	5	167	5	CCDC68	18	52585165	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8024221	52585165	25492083	1453	140759											
TCF4	6925	broad.mit.edu	37	chr18	52896180	52896180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggagctgcaccatgcGgccgagctctttgaaagcct	14	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:52896180G>A	uc002lfz.2	-	18	2377	c.1765C>T	c.(1765-1767)CGC>TGC	p.R589C	TCF4_uc002lfw.3_Missense_Mutation_p.R433C|TCF4_uc010xdu.1_Missense_Mutation_p.R459C|TCF4_uc010xdv.1_Missense_Mutation_p.R459C|TCF4_uc002lfx.2_Missense_Mutation_p.R522C|TCF4_uc010xdw.1_Missense_Mutation_p.R459C|TCF4_uc002lfy.2_Missense_Mutation_p.R547C|TCF4_uc010xdx.1_Missense_Mutation_p.R565C|TCF4_uc010dph.1_Missense_Mutation_p.R593C|TCF4_uc010xdy.1_Missense_Mutation_p.R569C|TCF4_uc002lga.2_Missense_Mutation_p.R695C|TCF4_uc002lgb.1_Missense_Mutation_p.R429C|TCF4_uc010dpi.2_Missense_Mutation_p.R599C|TCF4_uc002lfv.2_Missense_Mutation_p.R372C	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	589	Helix-loop-helix motif.				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			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGCACCATGCGGCCGAGCTCT	0.612													A	52896180	G	A	52896180	3	1	274	1	0	0	0	0	1	0	0	0	15692	1116	39	1	246	1	TCF4	18	52896180	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	311015	52896180	25181068	1454	140760											
FECH	2235	broad.mit.edu	37	chr18	55222129	55222129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactccagcctttccatgActttttggacagtggcgctt	9	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:55222129A>C	uc002lgq.3	-	8	977	c.860T>G	c.(859-861)GTC>GGC	p.V287G	FECH_uc002lgp.3_Missense_Mutation_p.V293G|FECH_uc002lgr.3_Missense_Mutation_p.V145G	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	287					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				CCTTTCCATGACTTTTTGGAC	0.532													C	55222129	A	C	55222129	3	2	274	1	0	0	0	0	1	0	0	0	5808	275	10	5	427	5	FECH	18	55222129	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2325949	55222129	22855119	1455	140761											
FECH	2235	broad.mit.edu	37	chr18	55238753	55238753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggggttcggcgtttggCgatgaatggtgccagcttac	16	8	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:55238753C>T	uc002lgq.3	-	4	451	c.334G>A	c.(334-336)GCC>ACC	p.A112T	FECH_uc002lgp.3_Missense_Mutation_p.A118T|FECH_uc002lgr.3_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	112					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				CGGCGTTTGGCGATGAATGGT	0.448													T	55238753	C	T	55238753	3	4	274	1	0	0	0	0	1	0	0	0	5808	768	27	1	969	1	FECH	18	55238753	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	16624	55238753	22838495	1456	140762											
KIAA1468	57614	broad.mit.edu	37	chr18	59949640	59949640	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcataaaaacatttggtagAgttggccctaacgcagaacc	8	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:59949640A>T	uc002lil.2	+	25	3431	c.3216A>T	c.(3214-3216)AGA>AGT	p.R1072S	KIAA1468_uc010xel.1_Missense_Mutation_p.R1072S|KIAA1468_uc002lim.2_Missense_Mutation_p.R750S	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	1072							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				CATTTGGTAGAGTTGGCCCTA	0.408													T	59949640	A	T	59949640	3	4	274	1	0	0	0	0	1	0	0	0	8236	301	11	5	3314	5	KIAA1468	18	59949640	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4710887	59949640	18127608	1457	140763											
BCL2	596	broad.mit.edu	37	chr18	60985894	60985894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccctgttctcccagcgtgCgccatccttcccagaggaaa	8	16	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:60985894C>T	uc002lit.1	-	2	499	c.6G>A	c.(4-6)GCG>GCA	p.A2A	BCL2_uc002liu.1_Silent_p.A2A|BCL2_uc002liv.1_Silent_p.A2A	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	2					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCCCAGCGTGCGCCATCCTTC	0.572			T	IGH@	NHL|CLL								T	60985894	C	T	60985894	2	4	274	1	0	0	0	0	0	0	0	1	1365	755	27	1		1	BCL2	18	60985894	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1036254	60985894	17091354	1458	140764											
SERPINB2	5055	broad.mit.edu	37	chr18	61562569	61562569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaactttaccagctgtggGttcatgcagcagatccagaa	11	9	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:61562569G>A	uc010xeu.1	+	4	573	c.240G>A	c.(238-240)GGG>GGA	p.G80G	SERPINB2_uc002ljo.2_Silent_p.G80G|SERPINB2_uc010dqh.2_Silent_p.G10G|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	80					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCAGCTGTGGGTTCATGCAGC	0.428													A	61562569	G	A	61562569	2	1	274	1	0	0	0	0	0	0	0	1	14101	1248	44	4		4	SERPINB2	18	61562569	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	576675	61562569	16514679	1459	140765											
DSEL	92126	broad.mit.edu	37	chr18	65178347	65178347	+	Frame_Shift_Del	DEL	A	A	-													ttccccttcatagggaaggtAaaaaaggtttgtagaggtgg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:65178346_65178346TA>T	uc002lke.1	-	1	4754	c.3530_3530TA>A	c.(3529-3531)tacfs	p.Y1177fs	DSEL_uc021ulg.1_Frame_Shift_Del_p.Y1177fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1167						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)				ATAGGGAAGGTAAAAAAGGTT	0.358													-	65178347	A	-	65178347	7	5	274	1	0	1	0	1	0	0	0	0	4775	362	13	0	143	0	DSEL	18	65178347	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	3615778	65178347	12898901	1460	140766											
ZNF407	55628	broad.mit.edu	37	chr18	72345280	72345280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaaaaataatattggcTtaagctttgaagaatgtatt	7	3	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:72345280T>G	uc002llw.2	+	1	2362	c.2305T>G	c.(2305-2307)TTA>GTA	p.L769V	ZNF407_uc010xfc.1_Missense_Mutation_p.L769V|ZNF407_uc010dqu.1_Missense_Mutation_p.L769V|ZNF407_uc002llu.2_Missense_Mutation_p.L768V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAATATTGGCTTAAGCTTTGA	0.323													G	72345280	T	G	72345280	3	3	274	1	0	0	0	0	1	0	0	0	17884	1606	56	5	2307	5	ZNF407	18	72345280	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	7166933	72345280	5731968	1461	140767											
ZNF516	9658	broad.mit.edu	37	chr18	74091004	74091004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgcaaggccgcgtcGcccctggaccccgcagcaca	13	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74091004G>A	uc010dqx.1	-	3	3301	c.3066C>T	c.(3064-3066)GGC>GGT	p.G1022G	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGCCGCGTCGCCCCTGGACC	0.731													A	74091004	G	A	74091004	2	1	274	1	0	0	0	0	0	0	0	1	17957	1074	38	1		1	ZNF516	18	74091004	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1745724	74091004	3986244	1462	140768											
ZNF236	7776	broad.mit.edu	37	chr18	74617320	74617320	+	Frame_Shift_Del	DEL	A	A	-													ctatatgtgtccctattgccAaaaaacatttaagacttcac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74617319_74617319CA>C	uc002lmi.3	+	12	2437	c.2239_2239CA>C	c.(2239-2241)caafs	p.Q747fs	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	747					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)		TCCCTATTGCCAAAAAACATT	0.418													-	74617320	A	-	74617320	7	5	274	1	0	1	0	1	0	0	0	0	17786	130	5	0	2290	0	ZNF236	18	74617320	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	526316	74617320	3459928	1463	140769											
ZNF236	7776	broad.mit.edu	37	chr18	74632003	74632003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagcttcaagaaacctagCgacctggtgaggtgagggca	14	8	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74632003C>T	uc002lmi.2	+	20	3738	c.3540C>T	c.(3538-3540)AGC>AGT	p.S1180S	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1180	C2H2-type 22.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		AGAAACCTAGCGACCTGGTGA	0.612													T	74632003	C	T	74632003	2	4	274	1	0	0	0	0	0	0	0	1	17786	767	27	1		1	ZNF236	18	74632003	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	14683	74632003	3445245	1464	140770											
ZNF236	7776	broad.mit.edu	37	chr18	74680287	74680287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcaggccctcacccacGtcttctgatgcgagttggaa	12	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74680287G>A	uc002lmi.2	+	31	5728	c.5530G>A	c.(5530-5532)GTC>ATC	p.V1844I	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1844					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		CCTCACCCACGTCTTCTGATG	0.562													A	74680287	G	A	74680287	3	1	274	1	0	0	0	0	1	0	0	0	17786	1145	40	1	5652	1	ZNF236	18	74680287	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	48284	74680287	3396961	1465	140771											
GALR1	2587	broad.mit.edu	37	chr18	74962929	74962929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatcgtgcactcgcggcGctcctcctccctcagggtgt	12	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:74962929G>A	uc002lms.3	+	1	922	c.425G>A	c.(424-426)CGC>CAC	p.R142H		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	142	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CACTCGCGGCGCTCCTCCTCC	0.657													A	74962929	G	A	74962929	3	1	274	1	0	0	0	0	1	0	0	0	6227	1087	38	1	427	1	GALR1	18	74962929	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	282642	74962929	3114319	1466	140772											
SALL3	27164	broad.mit.edu	37	chr18	76752132	76752132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagagccgcagcgggggCgaggagaccagcgtgtgcga	19	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:76752132C>T	uc002lmt.2	+	2	141	c.141C>T	c.(139-141)GGC>GGT	p.G47G	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		GCAGCGGGGGCGAGGAGACCA	0.701													T	76752132	C	T	76752132	2	4	274	1	0	0	0	0	0	0	0	1	13812	755	27	1		1	SALL3	18	76752132	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1789203	76752132	1325116	1467	140773											
ATP9B	374868	broad.mit.edu	37	chr18	77089290	77089290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagagcaagcggatgggCgtcatcgtcagggtgaggct	17	9	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr18:77089290C>T	uc002lmx.2	+	16	1937	c.1923C>T	c.(1921-1923)GGC>GGT	p.G641G	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Silent_p.G641G|ATP9B_uc002lmz.1_Silent_p.G335G	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	641	Cytoplasmic (Potential).				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			ovary(3)	3		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)		AGCGGATGGGCGTCATCGTCA	0.542													T	77089290	C	T	77089290	2	4	274	1	0	0	0	0	0	0	0	1	1199	755	27	1		1	ATP9B	18	77089290	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	337158	77089290	987958	1468	140774											
LMNB2	84823	broad.mit.edu	37	chr19	2431862	2431862	+	Frame_Shift_Del	DEL	G	G	-													cccttccacaccagcgtcgaGggggggctgtgggccacccc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:2431861_2431861AG>A	uc002lvy.3	-	9	1657	c.1570_1570CT>T	c.(1570-1572)tcgfs	p.S524fs		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	524	Tail.					nuclear inner membrane	structural molecule activity	p.S524fs*23(2)|p.S524L(1)		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)		ACCAGCGTCGAGGGGGGGCTG	0.677													-	2431862	G	-	2431862	7	5	274	1	0	1	0	1	0	0	0	0	8850	987	35	0	245	0	LMNB2	19	2431862	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08		2431862	56697121	1469	140775											
CELF5	60680	broad.mit.edu	37	chr19	3273874	3273874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctctctgcagatggCgcggccaatccaggtgaagc	11	16	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3273874C>T	uc002lxm.2	+	3	384	c.347C>T	c.(346-348)GCG>GTG	p.A116V	CELF5_uc002lxl.1_Missense_Mutation_p.A116V|CELF5_uc010dtj.1_Missense_Mutation_p.A116V|CELF5_uc010xhg.1_Missense_Mutation_p.A2V|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	116	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						CTGCAGATGGCGCGGCCAATC	0.637													T	3273874	C	T	3273874	3	4	274	1	0	0	0	0	1	0	0	0	3219	768	27	1	357	1	CELF5	19	3273874	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	842012	3273874	55855109	1470	140776											
TBXA2R	6915	broad.mit.edu	37	chr19	3600069	3600069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgtccccggactcggcGcccagcgtcaggaagcacca	12	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3600069G>A	uc002lyg.1	-	2	778	c.564C>T	c.(562-564)GGC>GGT	p.G188G	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	188	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		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)	CGGACTCGGCGCCCAGCGTCA	0.716													A	3600069	G	A	3600069	2	1	274	1	0	0	0	0	0	0	0	1	15660	1074	38	1		1	TBXA2R	19	3600069	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	326195	3600069	55528914	1471	140777											
MATK	4145	broad.mit.edu	37	chr19	3779046	3779046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagccggcttgagtctaGccccttccgctcggctttgg	14	14	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3779046G>A	uc002lyt.2	-	12	1541	c.1141C>T	c.(1141-1143)CTA>TTA	p.L381L	MATK_uc002lyv.2_Silent_p.L382L|MATK_uc002lyu.2_Silent_p.L340L|MATK_uc010dtq.2_Silent_p.L381L	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	381	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		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)		CTTGAGTCTAGCCCCTTCCGC	0.647													A	3779046	G	A	3779046	2	1	274	1	0	0	0	0	0	0	0	1	9332	962	34	2		2	MATK	19	3779046	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	178977	3779046	55349937	1472	140778											
EEF2	1938	broad.mit.edu	37	chr19	3982369	3982369	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaactgcttcagggtgaaGgcccacccgtggaggccaga	14	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:3982369G>T	uc002lze.2	-	5	749	c.666C>A	c.(664-666)GCC>GCA	p.A222A		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	222						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		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)		TCAGGGTGAAGGCCCACCCGT	0.627													T	3982369	G	T	3982369	2	4	274	1	0	0	0	0	0	0	0	1	4929	987	35	5		5	EEF2	19	3982369	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	203323	3982369	55146614	1473	140779											
SEMA6B	10501	broad.mit.edu	37	chr19	4550834	4550834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgaggcacctgatcctcCggcaccggcgtccagatgga	14	14	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:4550834C>T	uc010duc.1	-	10	1136	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	SEMA6B_uc010dud.2_Silent_p.P366P|SEMA6B_uc010xih.1_Silent_p.P366P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	366	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		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)		CCTGATCCTCCGGCACCGGCG	0.662													T	4550834	C	T	4550834	2	4	274	1	0	0	0	0	0	0	0	1	14040	639	23	1		1	SEMA6B	19	4550834	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	568465	4550834	54578149	1474	140780											
PTPRS	5802	broad.mit.edu	37	chr19	5214614	5214614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcatgacgatggtcgcCgaccgctgctcccacaccat	9	16	2	1	rs149934681		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:5214614C>T	uc002mbv.2	-	29	4686	c.4452G>A	c.(4450-4452)TCG>TCA	p.S1484S	PTPRS_uc002mbu.1_Silent_p.S1053S|PTPRS_uc010xin.1_Silent_p.S1026S|PTPRS_uc002mbw.2_Silent_p.S1446S|PTPRS_uc002mbx.2_Silent_p.S1041S|PTPRS_uc002mby.2_Silent_p.S1037S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1484	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGATGGTCGCCGACCGCTGCT	0.647													T	5214614	C	T	5214614	2	4	274	1	0	0	0	0	0	0	0	1	12811	639	23	1		1	PTPRS	19	5214614	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	663780	5214614	53914369	1475	140781											
PTPRS	5802	broad.mit.edu	37	chr19	5218520	5218520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaggaggcatttggtgCggggttctgagtccttgcgt	16	7	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:5218520C>T	uc002mbv.2	-	25	4193	c.3959G>A	c.(3958-3960)CGC>CAC	p.R1320H	PTPRS_uc002mbu.1_Missense_Mutation_p.R889H|PTPRS_uc010xin.1_Missense_Mutation_p.R889H|PTPRS_uc002mbw.2_Missense_Mutation_p.R1298H|PTPRS_uc002mbx.2_Missense_Mutation_p.R893H|PTPRS_uc002mby.2_Missense_Mutation_p.R889H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1320	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCATTTGGTGCGGGGTTCTGA	0.512													T	5218520	C	T	5218520	3	4	274	1	0	0	0	0	1	0	0	0	12811	768	27	1	1943	1	PTPRS	19	5218520	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3906	5218520	53910463	1476	140782											
ALKBH7	84266	broad.mit.edu	37	chr19	6374319	6374319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccccggccagaccctgCtctcctccgtgcacgtgctg	11	18	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:6374319C>T	uc002meo.1	+	2	698	c.310C>T	c.(310-312)CTC>TTC	p.L104F		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	spermatogenesis associated 11 precursor	104						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CCAGACCCTGCTCTCCTCCGT	0.682													T	6374319	C	T	6374319	3	4	274	1	0	0	0	0	1	0	0	0	532	797	28	2	316	2	ALKBH7	19	6374319	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1155799	6374319	52754664	1477	140783											
TRIP10	9322	broad.mit.edu	37	chr19	6743586	6743586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctagaccaggatatcaacGccaccaaggctgatgtggag	13	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:6743586G>A	uc002mfs.2	+	6	556	c.490G>A	c.(490-492)GCC>ACC	p.A164T	TRIP10_uc010dux.1_Missense_Mutation_p.A164T|TRIP10_uc002mfr.2_Missense_Mutation_p.A164T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	164	Potential.|Induction of membrane tubulation.				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			ovary(1)	1						GGATATCAACGCCACCAAGGC	0.622													A	6743586	G	A	6743586	3	1	274	1	0	0	0	0	1	0	0	0	16551	1087	38	1	512	1	TRIP10	19	6743586	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	369267	6743586	52385397	1478	140784											
INSR	3643	broad.mit.edu	37	chr19	7170599	7170599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcgtttctctcctggcGccccttggttcctgaaactt	8	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7170599G>A	uc002mgd.1	-	6	1541	c.1432C>T	c.(1432-1434)CGC>TGC	p.R478C	INSR_uc002mge.1_Missense_Mutation_p.R478C|INSR_uc002mgf.2_Missense_Mutation_p.R478C	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	478					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			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTCCTGGCGCCCCTTGGTT	0.403													A	7170599	G	A	7170599	3	1	274	1	0	0	0	0	1	0	0	0	7773	1087	38	1	2784	1	INSR	19	7170599	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	427013	7170599	51958384	1479	140785											
ZNF358	140467	broad.mit.edu	37	chr19	7584476	7584476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgacaccctcagccccggCgatccaaaagtggaccccat	9	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7584476C>T	uc002mgn.2	+	2	518	c.348C>T	c.(346-348)GGC>GGT	p.G116G		NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	116					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TCAGCCCCGGCGATCCAAAAG	0.537													T	7584476	C	T	7584476	2	4	274	1	0	0	0	0	0	0	0	1	17864	755	27	1		1	ZNF358	19	7584476	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	413877	7584476	51544507	1480	140786											
CLEC4M	10332	broad.mit.edu	37	chr19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgtcttggccatggcGccctggtgctgcaactcctc	13	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7830088G>A	uc002mih.2	+	3	266	c.148G>A	c.(148-150)GCC>ACC	p.A50T	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Missense_Mutation_p.A50T|CLEC4M_uc010dvs.2_Missense_Mutation_p.A49T|CLEC4M_uc010xjx.1_Missense_Mutation_p.A22T|CLEC4M_uc002mhz.2_Missense_Mutation_p.A50T|CLEC4M_uc002mic.2_Missense_Mutation_p.A22T|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	50	Helical; Signal-anchor for type II membrane protein; (Probable).				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			pancreas(1)	1						TGGCCATGGCGCCCTGGTGCT	0.632													A	7830088	G	A	7830088	3	1	274	1	0	0	0	0	1	0	0	0	3518	1087	38	1	158	1	CLEC4M	19	7830088	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	245612	7830088	51298895	1481	140787											
SNAPC2	6618	broad.mit.edu	37	chr19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-													ctccaaggcaccagaggagaCccccccagccaccgagaagg					rs143745112	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					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						ACCAGAGGAGACCCCCCCAGC	0.667													-	7987519	C	-	7987519	7	5	274	1	0	1	0	1	0	0	0	0	14835	507	18	0	893	0	SNAPC2	19	7987519	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	157431	7987519	51141464	1482	140788											
FBN3	84467	broad.mit.edu	37	chr19	8193949	8193950	+	Frame_Shift_Ins	INS	-	-	G													cctgccagaagtggaagccgINSggggggcaggagcagctgta					rs60853419		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8193948_8193949C>CG	uc002mjf.3	-	16	2276_2277	c.2259_2260G>CG	c.(2257-2262)cccggcfs	p.P753fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	753	EGF-like 9; 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						AAGTGGAAGCCGGGGGGGCAGG	0.599													G	8193950	-	G	8193949	7	5	274	1	0	1	1	0	0	0	0	0	5704	1103	39	0	6358	0	FBN3	19	8193949	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	206430	8193949	50935034	1483	140789											
RAB11B	9230	broad.mit.edu	37	chr19	8464780	8464780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcaggcgtgggcaagaGcaacctgctgtcgcgcttca	14	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8464780G>A	uc002mju.3	+	2	170	c.74G>A	c.(73-75)AGC>AAC	p.S25N	RAB11B_uc010xkd.1_Missense_Mutation_p.S25N	NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	25	GTP.				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						GTGGGCAAGAGCAACCTGCTG	0.642													A	8464780	G	A	8464780	3	1	274	1	0	0	0	0	1	0	0	0	12892	971	34	2	80	2	RAB11B	19	8464780	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	270831	8464780	50664203	1484	140790											
RAB11B	9230	broad.mit.edu	37	chr19	8464795	8464795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagcaacctgctgtcgcGcttcacccgcaacgagttca	9	15	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8464795G>A	uc002mju.3	+	2	185	c.89G>A	c.(88-90)CGC>CAC	p.R30H	RAB11B_uc010xkd.1_Missense_Mutation_p.R30H	NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	30					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						CTGCTGTCGCGCTTCACCCGC	0.637													A	8464795	G	A	8464795	3	1	274	1	0	0	0	0	1	0	0	0	12892	1087	38	1	95	1	RAB11B	19	8464795	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	15	8464795	50664188	1485	140791											
HNRNPM	4670	broad.mit.edu	37	chr19	8531211	8531211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttgaagataaagatggAaaaagtcgtggaataggcac	11	4	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8531211A>G	uc010dwe.2	+	7	803	c.723A>G	c.(721-723)GGA>GGG	p.G241G	HNRNPM_uc010dwc.1_Silent_p.G241G|HNRNPM_uc010xke.1_Silent_p.G202G|HNRNPM_uc010dwd.2_Silent_p.G202G|HNRNPM_uc002mka.2_Silent_p.G121G	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	241	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				0						ATAAAGATGGAAAAAGTCGTG	0.403													G	8531211	A	G	8531211	2	3	274	1	0	0	0	0	0	0	0	1	7271	233	9	3		3	HNRNPM	19	8531211	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	66416	8531211	50597772	1486	140792											
PRAM1	84106	broad.mit.edu	37	chr19	8563987	8563987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacggacttcttagggagGccaccgacctgaggctgcgg	16	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:8563987G>A	uc002mkd.2	-	2	725	c.705C>T	c.(703-705)GGC>GGT	p.G235G	PRAM1_uc002mkc.2_Silent_p.G235G	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	283	Pro-rich.						lipid binding|protein binding				0						TCTTAGGGAGGCCACCGACCT	0.637													A	8563987	G	A	8563987	2	1	274	1	0	0	0	0	0	0	0	1	12423	1190	42	2		2	PRAM1	19	8563987	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	32776	8563987	50564996	1487	140793											
MUC16	94025	broad.mit.edu	37	chr19	9047057	9047057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactggcttctggcccaGgactggtgatggctactggg	15	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9047057G>T	uc002mkp.2	-	5	34778	c.34574C>A	c.(34573-34575)CCT>CAT	p.P11525H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11527	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCTGGCCCAGGACTGGTGAT	0.507													T	9047057	G	T	9047057	3	4	274	1	0	0	0	0	1	0	0	0	9973	1000	35	5	9269	5	MUC16	19	9047057	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	483070	9047057	50081926	1488	140794											
MUC16	94025	broad.mit.edu	37	chr19	9057555	9057555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtactctgtgctgtagccCcaggagaacttttttgggtg	13	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9057555C>A	uc002mkp.2	-	3	30095	c.29891G>T	c.(29890-29892)GGG>GTG	p.G9964V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9966	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGCTGTAGCCCCAGGAGAACT	0.478													A	9057555	C	A	9057555	3	1	274	1	0	0	0	0	1	0	0	0	9973	623	22	5	13960	5	MUC16	19	9057555	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	10498	9057555	50071428	1489	140795											
MUC16	94025	broad.mit.edu	37	chr19	9077612	9077612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggagaccctttctgtagcCaacatattttctgttggtga	10	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9077612C>A	uc002mkp.2	-	3	10038	c.9834G>T	c.(9832-9834)TTG>TTT	p.L3278F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3279	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTCTGTAGCCAACATATTTT	0.547													A	9077612	C	A	9077612	3	1	274	1	0	0	0	0	1	0	0	0	9973	593	21	5	34017	5	MUC16	19	9077612	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	20057	9077612	50051371	1490	140796											
ZNF317	57693	broad.mit.edu	37	chr19	9271917	9271917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagaaaccgtacgaatgCgatcactgtgggaaggcctt	15	8	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9271917C>T	uc002mku.2	+	7	1871	c.1596C>T	c.(1594-1596)TGC>TGT	p.C532C	ZNF317_uc002mkv.2_Silent_p.C391C|ZNF317_uc002mkw.2_Silent_p.C500C|ZNF317_uc002mkx.2_Silent_p.C447C|ZNF317_uc002mky.2_Silent_p.C415C	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGTACGAATGCGATCACTGTG	0.567													T	9271917	C	T	9271917	2	4	274	1	0	0	0	0	0	0	0	1	17832	776	27	1		1	ZNF317	19	9271917	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	194305	9271917	49857066	1491	140797											
ZNF699	374879	broad.mit.edu	37	chr19	9406577	9406577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattctttacattcatacggCttctctccgctgtgagttct	6	12	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:9406577C>A	uc002mlc.1	-	5	1503	c.1503G>T	c.(1501-1503)AAG>AAT	p.K501N		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTCATACGGCTTCTCTCCGC	0.433													A	9406577	C	A	9406577	3	1	274	1	0	0	0	0	1	0	0	0	18098	796	28	5	429	5	ZNF699	19	9406577	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	134660	9406577	49722406	1492	140798											
ILF3	3609	broad.mit.edu	37	chr19	10791720	10791720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcggctcgctgccttcgGccagctccataaagtcctag	10	15	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:10791720G>A	uc002mpn.2	+	10	1300	c.983G>A	c.(982-984)GGC>GAC	p.G328D	ILF3_uc002mpm.2_Missense_Mutation_p.G328D|ILF3_uc002mpl.2_Missense_Mutation_p.G328D|ILF3_uc002mpk.2_Missense_Mutation_p.G328D|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.G328D|ILF3_uc002mpp.2_Missense_Mutation_p.G149D	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	328	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|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCTGCCTTCGGCCAGCTCCAT	0.592													A	10791720	G	A	10791720	3	1	274	1	0	0	0	0	1	0	0	0	7712	1203	42	2	1017	2	ILF3	19	10791720	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1385143	10791720	48337263	1493	140799											
TSPAN16	26526	broad.mit.edu	37	chr19	11417320	11417320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactacacagatttttctgGctcttccttcgaaatgacaa	5	10	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:11417320G>A	uc002mqv.1	+	5	641	c.491G>A	c.(490-492)GGC>GAC	p.G164D	TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	164	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						GATTTTTCTGGCTCTTCCTTC	0.448													A	11417320	G	A	11417320	3	1	274	1	0	0	0	0	1	0	0	0	16637	1203	42	2	509	2	TSPAN16	19	11417320	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	625600	11417320	47711663	1494	140800											
CCDC151	115948	broad.mit.edu	37	chr19	11541544	11541544	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgttcttcaggtatGgcttctcccacttccattcg	7	14	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:11541544G>T	uc002mrs.2	-	3	562	c.419C>A	c.(418-420)CCA>CAA	p.P140Q	CCDC151_uc002mrr.2_Missense_Mutation_p.P75Q|CCDC151_uc010dxz.2_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	140	Potential.									ovary(1)	1						CTTCAGGTATGGCTTCTCCCA	0.582													T	11541544	G	T	11541544	3	4	274	1	0	0	0	0	1	0	0	0	2786	1348	47	5	1412	5	CCDC151	19	11541544	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	124224	11541544	47587439	1495	140801											
ELAVL3	1995	broad.mit.edu	37	chr19	11569311	11569311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcgggacgtgatgatgCggccgtactgggagaagagc	19	7	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:11569311C>T	uc002mry.1	-	4	829	c.449G>A	c.(448-450)CGC>CAC	p.R150H	ELAVL3_uc002mrx.1_Missense_Mutation_p.R150H	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	150	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						CGTGATGATGCGGCCGTACTG	0.632													T	11569311	C	T	11569311	3	4	274	1	0	0	0	0	1	0	0	0	5051	768	27	1	670	1	ELAVL3	19	11569311	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	27767	11569311	47559672	1496	140802											
ZNF878	729747	broad.mit.edu	37	chr19	12155668	12155668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgtctacgaacagaactgGgaaaactgaatgctttccca	8	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12155668G>T	uc002mta.1	-	5	689	c.689C>A	c.(688-690)CCC>CAC	p.P230H		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	183	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AACAGAACTGGGAAAACTGAA	0.393													T	12155668	G	T	12155668	3	4	274	1	0	0	0	0	1	0	0	0	18193	1232	43	5	1051	5	ZNF878	19	12155668	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	586357	12155668	46973315	1497	140803											
TNPO2	30000	broad.mit.edu	37	chr19	12830079	12830079	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagagggcgtaccttcTgacttgagtctggtcaggac	15	9	3	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12830079T>C	uc002muo.2	-	3	356	c.171A>G	c.(169-171)TCA>TCG	p.S57S	TNPO2_uc002mup.2_Silent_p.S149S|TNPO2_uc002muq.2_Silent_p.S57S|TNPO2_uc002mur.2_Silent_p.S57S	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	57	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GCGTACCTTCTGACTTGAGTC	0.547													C	12830079	T	C	12830079	2	2	274	1	0	0	0	0	0	0	0	1	16333	1567	55	3		3	TNPO2	19	12830079	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	674411	12830079	46298904	1498	140804											
BEST2	54831	broad.mit.edu	37	chr19	12867058	12867058	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccccatacacagcggctaCtgtcttccagctgcggcagc	10	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12867058C>A	uc002mux.2	+	8	1052	c.1052C>A	c.(1051-1053)ACT>AAT	p.T351N		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	351	Cytoplasmic (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						ACAGCGGCTACTGTCTTCCAG	0.617													A	12867058	C	A	12867058	3	1	274	1	0	0	0	0	1	0	0	0	1405	565	20	5	1082	5	BEST2	19	12867058	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	36979	12867058	46261925	1499	140805											
MAST1	22983	broad.mit.edu	37	chr19	12985060	12985060	+	Frame_Shift_Del	DEL	G	G	-													agcaaggagaaggaatccccGgggggcgccgaggcgtgcac							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:12985060delG	uc002mvm.2	+	26	4217	c.4089delG	c.(4087-4089)CCGfs	p.P1363fs		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1363					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AGGAATCCCCGGGGGGCGCCG	0.736													-	12985060	G	-	12985060	7	5	274	1	0	1	0	1	0	0	0	0	9324	1103	39	0	4191	0	MAST1	19	12985060	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	118002	12985060	46143923	1500	140806											
RAD23A	5886	broad.mit.edu	37	chr19	13059913	13059913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggaattcctgggagccccGagccggaacacggttctgtc	14	12	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:13059913G>A	uc002mvw.1	+	6	728	c.619G>A	c.(619-621)GAG>AAG	p.E207K	RAD23A_uc002mvx.1_Missense_Mutation_p.E207K|RAD23A_uc002mvz.1_Missense_Mutation_p.E207K|RAD23A_uc002mwa.1_Missense_Mutation_p.E207K|RAD23A_uc002mvy.1_Missense_Mutation_p.E42K|RAD23A_uc010xmw.1_Missense_Mutation_p.E42K	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	207					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)	1						TGGGAGCCCCGAGCCGGAACA	0.622								NER					A	13059913	G	A	13059913	3	1	274	1	0	0	0	0	1	0	0	0	12982	1059	37	1	641	1	RAD23A	19	13059913	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	74853	13059913	46069070	1501	140807											
MRI1	84245	broad.mit.edu	37	chr19	13879814	13879814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcattattgaagagcgaCcgggccaggagctgaccgat	13	9	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:13879814C>T	uc002mxe.2	+	5	967	c.901C>T	c.(901-903)CCG>TCG	p.P301S	MRI1_uc002mxf.2_Missense_Mutation_p.P254S	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	301					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						TGAAGAGCGACCGGGCCAGGA	0.592													T	13879814	C	T	13879814	3	4	274	1	0	0	0	0	1	0	0	0	9770	507	18	4	1012	4	MRI1	19	13879814	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	819901	13879814	45249169	1502	140808											
DCAF15	90379	broad.mit.edu	37	chr19	14070014	14070014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtctcctgagccctcGcccgccattgccaaagccaa	9	17	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:14070014G>A	uc002mxt.2	+	7	948	c.942G>A	c.(940-942)TCG>TCA	p.S314S	DCAF15_uc002mxu.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	314										central_nervous_system(1)	1						CTGAGCCCTCGCCCGCCATTG	0.701													A	14070014	G	A	14070014	2	1	274	1	0	0	0	0	0	0	0	1	4267	1074	38	1		1	DCAF15	19	14070014	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	190200	14070014	45058969	1503	140809											
OR1I1	126370	broad.mit.edu	37	chr19	15198348	15198348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaacctccagtctctcAtacacacctgcctcatggct	4	18	4	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15198348A>G	uc010xoe.1	+	1	472	c.472A>G	c.(472-474)ATA>GTA	p.I158V		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3						CCAGTCTCTCATACACACCTG	0.567													G	15198348	A	G	15198348	3	3	274	1	0	0	0	0	1	0	0	0	10958	217	8	3	474	3	OR1I1	19	15198348	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1128334	15198348	43930635	1504	140810											
ILVBL	10994	broad.mit.edu	37	chr19	15227320	15227320	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccactaacttcagcacgaaGgaacccacatctcctgggga	8	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15227320G>T	uc002nam.2	-	11	1321	c.1200C>A	c.(1198-1200)TCC>TCA	p.S400S	ILVBL_uc010xof.1_Silent_p.S41S|ILVBL_uc010dzw.2_Silent_p.S293S	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	400						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						TCAGCACGAAGGAACCCACAT	0.612													T	15227320	G	T	15227320	2	4	274	1	0	0	0	0	0	0	0	1	7715	987	35	5		5	ILVBL	19	15227320	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	28972	15227320	43901663	1505	140811											
NOTCH3	4854	broad.mit.edu	37	chr19	15273352	15273352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttgttcacagccgcaGcccagtgtaaggctgatttc	10	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15273352G>A	uc002nan.2	-	32	5913	c.5837C>T	c.(5836-5838)GCT>GTT	p.A1946V		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1946	Cytoplasmic (Potential).|ANK 4.				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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGCCGCAGCCCAGTGTAA	0.572													A	15273352	G	A	15273352	3	1	274	1	0	0	0	0	1	0	0	0	10550	971	34	2	1136	2	NOTCH3	19	15273352	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	46032	15273352	43855631	1506	140812											
NOTCH3	4854	broad.mit.edu	37	chr19	15289970	15289970	+	Frame_Shift_Del	DEL	G	G	-													agcgcaaaccagtgtatcctGggggacaggtgcagcggaaa							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15289970delG	uc002nan.2	-	22	3660	c.3584delC	c.(3583-3585)CCAfs	p.P1195fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.P1143fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1195	Extracellular (Potential).|EGF-like 30; 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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGTGTATCCTGGGGGACAGGT	0.667													-	15289970	G	-	15289970	7	5	274	1	0	1	0	1	0	0	0	0	10550	1348	47	0	3429	0	NOTCH3	19	15289970	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	16618	15289970	43839013	1507	140813											
AKAP8	10270	broad.mit.edu	37	chr19	15471735	15471735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggaattagcatgtcgCaggccaggcagtgagcagcc	15	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:15471735C>T	uc002nav.2	-	12	1512	c.1451G>A	c.(1450-1452)TGC>TAC	p.C484Y	AKAP8_uc010dzy.2_Missense_Mutation_p.C33Y|AKAP8_uc010dzz.1_RNA	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	484	C2H2 AKAP95-type 2.				signal transduction	nuclear matrix				ovary(1)|breast(1)	2						TAGCATGTCGCAGGCCAGGCA	0.587													T	15471735	C	T	15471735	3	4	274	1	0	0	0	0	1	0	0	0	457	710	25	2	639	2	AKAP8	19	15471735	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	181765	15471735	43657248	1508	140814											
AP1M1	8907	broad.mit.edu	37	chr19	16319879	16319879	+	Frame_Shift_Del	DEL	C	C	-													ccacaagctggaaacaggggCcccgcggccaccagccaccg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:16319879delC	uc002ndu.2	+	5	610	c.437delC	c.(436-438)GCCfs	p.A146fs	AP1M1_uc002ndv.2_Frame_Shift_Del_p.A146fs|AP1M1_uc010xpd.1_Frame_Shift_Del_p.A146fs	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	146					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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			ovary(3)|breast(1)	4						GAAACAGGGGCCCCGCGGCCA	0.612													-	16319879	C	-	16319879	7	5	274	1	0	1	0	1	0	0	0	0	734	739	26	0	455	0	AP1M1	19	16319879	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	848144	16319879	42809104	1509	140815											
CPAMD8	27151	broad.mit.edu	37	chr19	17039884	17039884	+	Frame_Shift_Del	DEL	C	C	-													catgacctggtgttctgatgCccccccaggacgatctcgat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:17039884delC	uc002nfb.2	-	24	3185	c.3153delG	c.(3151-3153)GGGfs	p.G1051fs		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1004						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGTTCTGATGCCCCCCCAGGA	0.587													-	17039884	C	-	17039884	7	5	274	1	0	1	0	1	0	0	0	0	3795	726	26	0	2721	0	CPAMD8	19	17039884	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	720005	17039884	42089099	1510	140816											
USE1	55850	broad.mit.edu	37	chr19	17330465	17330465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacactcactgaaaatggCggaccagaacctggagaaac	10	11	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:17330465C>T	uc002nfo.2	+	8	683	c.623C>T	c.(622-624)GCG>GTG	p.A208V	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	208	Cytoplasmic (Potential).|Potential.				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						CTGAAAATGGCGGACCAGAAC	0.537													T	17330465	C	T	17330465	3	4	274	1	0	0	0	0	1	0	0	0	17028	768	27	1	653	1	USE1	19	17330465	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	290581	17330465	41798518	1511	140817											
JUND	3727	broad.mit.edu	37	chr19	18391865	18391865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtgtaaatcctccaGggccttgacgaagccctcgg	11	13	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:18391865G>T	uc002nip.2	-	1	568	c.430C>A	c.(430-432)CTG>ATG	p.L144M	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	144					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						AAATCCTCCAGGGCCTTGACG	0.562													T	18391865	G	T	18391865	3	4	274	1	0	0	0	0	1	0	0	0	7971	991	35	5	617	5	JUND	19	18391865	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1061400	18391865	40737118	1512	140818											
TMEM59L	25789	broad.mit.edu	37	chr19	18727908	18727908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagccctggaggtgcaCgtgggtaaggtgcaacctag	15	10	0	1	rs138742174		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:18727908C>T	uc002njy.3	+	5	747	c.660C>T	c.(658-660)CAC>CAT	p.H220H	TMEM59L_uc010ebu.1_Silent_p.H220H	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	220						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TGGAGGTGCACGTGGGTAAGG	0.632													T	18727908	C	T	18727908	2	4	274	1	0	0	0	0	0	0	0	1	16183	535	19	1		1	TMEM59L	19	18727908	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	336043	18727908	40401075	1513	140819											
CILP2	148113	broad.mit.edu	37	chr19	19653320	19653320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccaccagcgatgctcaCggaaccttccgggtgcctgg	14	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:19653320C>T	uc002nmv.3	+	5	814	c.729C>T	c.(727-729)CAC>CAT	p.H243H	CILP2_uc002nmw.3_Silent_p.H249H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	243						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCGATGCTCACGGAACCTTCC	0.667													T	19653320	C	T	19653320	2	4	274	1	0	0	0	0	0	0	0	1	3430	535	19	1		1	CILP2	19	19653320	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	925412	19653320	39475663	1514	140820											
GMIP	51291	broad.mit.edu	37	chr19	19746286	19746286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcacttggctgggccccGcagtcgccgcagctggtggg	18	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:19746286G>A	uc002nnd.2	-	15	1615	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	GMIP_uc010xrb.1_Missense_Mutation_p.R474W|GMIP_uc010xrc.1_Missense_Mutation_p.R471W	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	500	Phorbol-ester/DAG-type.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GCTGGGCCCCGCAGTCGCCGC	0.652													A	19746286	G	A	19746286	3	1	274	1	0	0	0	0	1	0	0	0	6491	1086	38	1	1442	1	GMIP	19	19746286	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	92966	19746286	39382697	1515	140821											
ZNF43	7594	broad.mit.edu	37	chr19	21991483	21991483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catacttcacatttgtagggTttctctccagtatgaattct	6	9	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:21991483T>G	uc002nqj.2	-	4	1486	c.1356A>C	c.(1354-1356)AAA>AAC	p.K452N	ZNF43_uc010ecv.2_Missense_Mutation_p.K446N|ZNF43_uc002nql.2_Missense_Mutation_p.K446N|ZNF43_uc002nqm.2_Missense_Mutation_p.K446N|ZNF43_uc002nqk.2_Missense_Mutation_p.K382N	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATTTGTAGGGTTTCTCTCCAG	0.393													G	21991483	T	G	21991483	3	3	274	1	0	0	0	0	1	0	0	0	17900	1722	60	5	1077	5	ZNF43	19	21991483	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2245197	21991483	37137500	1516	140822											
ZNF675	171392	broad.mit.edu	37	chr19	23836033	23836033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaaaatcattatcacaCattccagttctgtagtttct	4	9	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:23836033C>T	uc002nri.2	-	4	1884	c.1702G>A	c.(1702-1704)GTG>ATG	p.V568M		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	568					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			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTATCACACATTCCAGTTC	0.299													T	23836033	C	T	23836033	3	4	274	1	0	0	0	0	1	0	0	0	18079	478	17	4	8	4	ZNF675	19	23836033	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1844550	23836033	35292950	1517	140823											
ZNF536	9745	broad.mit.edu	37	chr19	30935034	30935034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaacctgggcaaggggCgtgggcgtgtgcgcgaggag	22	8	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:30935034C>T	uc002nsu.1	+	2	703	c.565C>T	c.(565-567)CGT>TGT	p.R189C	ZNF536_uc010edd.1_Missense_Mutation_p.R189C	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGGCAAGGGGCGTGGGCGTGT	0.677													T	30935034	C	T	30935034	3	4	274	1	0	0	0	0	1	0	0	0	17971	768	27	1	567	1	ZNF536	19	30935034	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7099001	30935034	28193949	1518	140824											
NUDT19	390916	broad.mit.edu	37	chr19	33202775	33202775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggatagtgacataccatcGccacctttatgatatccacg	7	13	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:33202775G>A	uc010edf.2	+	3	1040	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	347						mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					ACATACCATCGCCACCTTTAT	0.388													A	33202775	G	A	33202775	3	1	274	1	0	0	0	0	1	0	0	0	10736	1087	38	1	1050	1	NUDT19	19	33202775	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2267741	33202775	25926208	1519	140825											
SLC7A9	11136	broad.mit.edu	37	chr19	33355008	33355008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaggtactcacagatggCggcggcggccaggcatttca	14	12	3	1	rs140134166	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:33355008C>T	uc002ntv.3	-	4	589	c.472G>A	c.(472-474)GCC>ACC	p.A158T	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.A158T|SLC7A9_uc002ntw.3_5'UTR	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	158	Helical; (Potential).		A -> AA (in CSNU).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TCACAGATGGCGGCGGCGGCC	0.607													T	33355008	C	T	33355008	3	4	274	1	0	0	0	0	1	0	0	0	14705	768	27	1	1031	1	SLC7A9	19	33355008	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	152233	33355008	25773975	1520	140826											
LSR	51599	broad.mit.edu	37	chr19	35741297	35741297	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtgaccctgccctgTacctaccagatgacctcgac	8	17	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:35741297T>C	uc002nyl.2	+	2	556	c.333T>C	c.(331-333)TGT>TGC	p.C111C	LSR_uc002nym.2_Silent_p.C111C|LSR_uc002nyn.2_Silent_p.C111C|LSR_uc002nyo.2_Silent_p.C111C|LSR_uc010xsr.1_Silent_p.C111C|LSR_uc002nyp.2_Silent_p.C74C	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	111	Extracellular (Potential).|Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	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)			CCCTGCCCTGTACCTACCAGA	0.622													C	35741297	T	C	35741297	2	2	274	1	0	0	0	0	0	0	0	1	9064	1644	57	3		3	LSR	19	35741297	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2386289	35741297	23387686	1521	140827											
ATP4A	495	broad.mit.edu	37	chr19	36050835	36050835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcaccgaagagaatggCcaggcccgcgatgatgtcca	14	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36050835C>T	uc002oal.1	-	7	957	c.928G>A	c.(928-930)GCC>ACC	p.A310T	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	310	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	AAGAGAATGGCCAGGCCCGCG	0.552													T	36050835	C	T	36050835	3	4	274	1	0	0	0	0	1	0	0	0	1145	739	26	2	2243	2	ATP4A	19	36050835	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	309538	36050835	23078148	1522	140828											
ATP4A	495	broad.mit.edu	37	chr19	36051332	36051332	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctctcgtgcgtgcactcGggtgagcgggtctgtggctc	18	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36051332G>T	uc002oal.1	-	6	749	c.720C>A	c.(718-720)CCC>CCA	p.P240P	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	240	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	GCGTGCACTCGGGTGAGCGGG	0.657													T	36051332	G	T	36051332	2	4	274	1	0	0	0	0	0	0	0	1	1145	1103	39	5		5	ATP4A	19	36051332	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	497	36051332	23077651	1523	140829											
NPHS1	4868	broad.mit.edu	37	chr19	36340027	36340027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtgctctgtgccccacGctgtggacaccggctggcca	15	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36340027G>A	uc002oby.2	-	8	863	c.863C>T	c.(862-864)GCG>GTG	p.A288V		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	288	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	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)			TGTGCCCCACGCTGTGGACAC	0.677													A	36340027	G	A	36340027	3	1	274	1	0	0	0	0	1	0	0	0	10582	1087	38	1	2950	1	NPHS1	19	36340027	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	288695	36340027	22788956	1524	140830											
CLIP3	25999	broad.mit.edu	37	chr19	36508818	36508818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcgacaaggacctggTctccaacctcagccttggcc	11	17	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36508818T>C	uc010eeq.1	-	9	1541	c.1259A>G	c.(1258-1260)GAC>GGC	p.D420G	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.D420G	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	420					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			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGGACCTGGTCTCCAACCTC	0.622													C	36508818	T	C	36508818	3	2	274	1	0	0	0	0	1	0	0	0	3534	1667	58	3	404	3	CLIP3	19	36508818	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	168791	36508818	22620165	1525	140831											
THAP8	199745	broad.mit.edu	37	chr19	36530914	36530914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtagcgcacaccccagcGccactggaagcaggagggtg	15	13	0	0	rs146907955		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36530914G>A	uc002oda.1	-	2	753	c.208C>T	c.(208-210)CGC>TGC	p.R70C	uc002ocy.2_Intron|THAP8_uc010xtb.1_Missense_Mutation_p.R27C|THAP8_uc010xtc.1_Intron	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	THAP domain containing 8	70	THAP-type.						DNA binding|metal ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACACCCCAGCGCCACTGGAAG	0.662													A	36530914	G	A	36530914	3	1	274	1	0	0	0	0	1	0	0	0	15847	1087	38	1	628	1	THAP8	19	36530914	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	22096	36530914	22598069	1526	140832											
WDR62	284403	broad.mit.edu	37	chr19	36595895	36595895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacactactcggagctgctgGtgcaggccgtgcggaggaag	16	10	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:36595895G>T	uc002odc.2	+	32	4613	c.4522G>T	c.(4522-4524)GTG>TTG	p.V1508L	WDR62_uc002odd.2_Missense_Mutation_p.V1513L	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1508					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGCTGCTGGTGCAGGCCGT	0.662													T	36595895	G	T	36595895	3	4	274	1	0	0	0	0	1	0	0	0	17310	1261	44	5	4663	5	WDR62	19	36595895	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	64981	36595895	22533088	1527	140833											
ZNF570	148268	broad.mit.edu	37	chr19	37975340	37975340	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggattcatactggagaaaaAccctatgaatgtaaggaatg	10	5	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:37975340A>C	uc002ogk.1	+	5	1345	c.816A>C	c.(814-816)AAA>AAC	p.K272N	ZNF570_uc010efl.1_Missense_Mutation_p.K328N|ZNF570_uc010xtr.1_Missense_Mutation_p.K69N	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGAGAAAAACCCTATGAAT	0.398													C	37975340	A	C	37975340	3	2	274	1	0	0	0	0	1	0	0	0	17999	40	2	5	830	5	ZNF570	19	37975340	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1379445	37975340	21153643	1528	140834											
GGN	199720	broad.mit.edu	37	chr19	38876629	38876629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccccgggcgcatgggctCgccattggtgggtgctggga	19	11	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:38876629C>T	uc002oij.1	-	3	1408	c.1273G>A	c.(1273-1275)GAG>AAG	p.E425K	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.E342K	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	425	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCATGGGCTCGCCATTGGTG	0.483													T	38876629	C	T	38876629	3	4	274	1	0	0	0	0	1	0	0	0	6358	893	31	1	693	1	GGN	19	38876629	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	901289	38876629	20252354	1529	140835											
PAK4	10298	broad.mit.edu	37	chr19	39667317	39667317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcacgccctactggatgGccccagagctcatctcccgc	10	18	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:39667317G>A	uc002okj.1	+	9	1908	c.1447G>A	c.(1447-1449)GCC>ACC	p.A483T	PAK4_uc002okl.1_Missense_Mutation_p.A483T|PAK4_uc002okn.1_Missense_Mutation_p.A483T|PAK4_uc002okm.1_Missense_Mutation_p.A330T|PAK4_uc002oko.1_Missense_Mutation_p.A330T|PAK4_uc002okp.1_Missense_Mutation_p.A393T	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	483	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CTACTGGATGGCCCCAGAGCT	0.647													A	39667317	G	A	39667317	3	1	274	1	0	0	0	0	1	0	0	0	11403	1203	42	2	1469	2	PAK4	19	39667317	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	790688	39667317	19461666	1530	140836											
SUPT5H	6829	broad.mit.edu	37	chr19	39957172	39957172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgaagatgatcccacGcatcgactacgatcgcatca	7	15	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:39957172G>A	uc002olo.3	+	12	1108	c.929G>A	c.(928-930)CGC>CAC	p.R310H	SUPT5H_uc002olp.3_Missense_Mutation_p.R310H|SUPT5H_uc002olq.3_Missense_Mutation_p.R306H|SUPT5H_uc002oln.3_Missense_Mutation_p.R310H|SUPT5H_uc002olr.3_Missense_Mutation_p.R310H|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	310					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGATCCCACGCATCGACTAC	0.622													A	39957172	G	A	39957172	3	1	274	1	0	0	0	0	1	0	0	0	15396	1087	38	1	971	1	SUPT5H	19	39957172	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	289855	39957172	19171811	1531	140837											
SPTBN4	57731	broad.mit.edu	37	chr19	41075621	41075621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaggcaggcccagggCtgcctgctggggtaagttga	17	8	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:41075621C>A	uc002ony.2	+	32	7101	c.7015C>A	c.(7015-7017)CTG>ATG	p.L2339M	SPTBN4_uc002onz.2_Missense_Mutation_p.L2339M|SPTBN4_uc010egx.2_Missense_Mutation_p.L1082M	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2339					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			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCCAGGGCTGCCTGCTGG	0.602													A	41075621	C	A	41075621	3	1	274	1	0	0	0	0	1	0	0	0	15120	796	28	5	7231	5	SPTBN4	19	41075621	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1118449	41075621	18053362	1532	140838											
NUMBL	9253	broad.mit.edu	37	chr19	41188661	41188661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgtccaccactcggagcCcatcggctgacacccacagg	10	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:41188661C>A	uc002oon.2	-	5	539	c.371G>T	c.(370-372)GGG>GTG	p.G124V	NUMBL_uc010xvq.1_Missense_Mutation_p.G83V|NUMBL_uc002ooo.2_Missense_Mutation_p.G124V|NUMBL_uc010xvr.1_Missense_Mutation_p.G83V	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	124	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CACTCGGAGCCCATCGGCTGA	0.647													A	41188661	C	A	41188661	3	1	274	1	0	0	0	0	1	0	0	0	10752	623	22	5	1482	5	NUMBL	19	41188661	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	113040	41188661	17940322	1533	140839											
SNRPA	6626	broad.mit.edu	37	chr19	41271032	41271032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagggctttaagatcaCgcagaacaacgccatgaaga	10	11	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:41271032C>T	uc002ooz.2	+	6	1344	c.809C>T	c.(808-810)ACG>ATG	p.T270M	SNRPA_uc002opa.2_Missense_Mutation_p.T220M	NM_004596	NP_004587	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	270	RRM 2.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			skin(2)|ovary(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTTAAGATCACGCAGAACAAC	0.597													T	41271032	C	T	41271032	3	4	274	1	0	0	0	0	1	0	0	0	14859	536	19	1	831	1	SNRPA	19	41271032	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	82371	41271032	17857951	1534	140840											
ATP1A3	478	broad.mit.edu	37	chr19	42473622	42473622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcttccaggtcattgaCggtgcggtcatcccagttca	10	12	4	1	rs149600313	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42473622C>T	uc002osg.2	-	19	2807	c.2653G>A	c.(2653-2655)GTC>ATC	p.V885I	ATP1A3_uc010xwf.1_Missense_Mutation_p.V896I|ATP1A3_uc010xwg.1_Missense_Mutation_p.V855I|ATP1A3_uc010xwh.1_Missense_Mutation_p.V898I|ATP1A3_uc002osh.2_Missense_Mutation_p.V885I	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	885	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						AGGTCATTGACGGTGCGGTCA	0.592													T	42473622	C	T	42473622	3	4	274	1	0	0	0	0	1	0	0	0	1130	536	19	1	408	1	ATP1A3	19	42473622	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1202590	42473622	16655361	1535	140841											
POU2F2	5452	broad.mit.edu	37	chr19	42599543	42599544	+	Frame_Shift_Ins	INS	-	-	CGGATCA													gccggttgcagaaccagacgINScggatcacttccttctccat							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42599543_42599544insCGGATCA	uc002osp.2	-	11	1092_1093	c.1025_1026insTGATCCG	c.(1024-1026)CGCfs	p.R342fs	POU2F2_uc002osn.2_Frame_Shift_Ins_p.R326fs|POU2F2_uc002oso.2_Frame_Shift_Ins_p.R115fs|POU2F2_uc002osq.2_Frame_Shift_Ins_p.R326fs|POU2F2_uc002osr.1_Frame_Shift_Ins_p.R342fs	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	342	Homeobox.			VIR->FNP: Suppresses DNA-binding ability.	humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				AGAACCAGACGCGGATCACTTC	0.644													CGGATCA	42599544	-	CGGATCA	42599543	7	5	274	1	0	1	1	0	0	0	0	0	12272	1074	38	0	429	0	POU2F2	19	42599543	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	125921	42599543	16529440	1536	140842	754	2									
POU2F2	5452	broad.mit.edu	37	chr19	42599544	42599545	+	Frame_Shift_Ins	INS	-	-	CGGATCA													ccggttgcagaaccagacgcINSggatcacttccttctccatg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42599543_42599544G>GCGGATCA	uc002osp.3	-	10	1087_1088	c.1025_1026C>TGATCCGC	c.(1024-1026)cgcfs	p.R342fs	POU2F2_uc002osn.3_Frame_Shift_Ins_p.R326fs|POU2F2_uc002osq.3_Frame_Shift_Ins_p.R326fs|POU2F2_uc002osr.2_Frame_Shift_Ins_p.R342fs	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	342					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)				AGAACCAGACGCGGATCACTTC	0.644													CGGATCA	42599545	-	CGGATCA	42599544	7	5	274	1	0	1	1	0	0	0	0	0	12272	768	27	0	430	0	POU2F2	19	42599544	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1	42599544	16529439	1537	140843	754	2									
CIC	23152	broad.mit.edu	37	chr19	42793486	42793486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcgttctcagcgtgcgGccagtgaggacatgacgagt	13	11	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42793486G>A	uc002otf.1	+	8	1328	c.1288G>A	c.(1288-1290)GCC>ACC	p.A430T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				TCAGCGTGCGGCCAGTGAGGA	0.627			T	DUX4	soft tissue sarcoma								A	42793486	G	A	42793486	3	1	274	1	0	0	0	0	1	0	0	0	3424	1203	42	2	1318	2	CIC	19	42793486	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	193942	42793486	16335497	1538	140844											
MEGF8	1954	broad.mit.edu	37	chr19	42830410	42830410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgatggccctgggcaaGgttctggccatggcactggt	17	11	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:42830410G>T	uc002otl.3	+	1	650	c.15G>T	c.(13-15)AAG>AAT	p.K5N		NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	5						integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CCCTGGGCAAGGTTCTGGCCA	0.687											OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	42830410	G	T	42830410	3	4	274	1	0	0	0	0	1	0	0	0	9463	991	35	5	17	5	MEGF8	19	42830410	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	36924	42830410	16298573	1539	140845											
PSG3	5671	broad.mit.edu	37	chr19	43243121	43243121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccagatgtagccagcaAgattctggggcaaattgtgg	13	7	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:43243121A>G	uc002oue.2	-	2	317	c.185T>C	c.(184-186)CTT>CCT	p.L62P	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.L84P	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	62	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GTAGCCAGCAAGATTCTGGGG	0.448													G	43243121	A	G	43243121	3	3	274	1	0	0	0	0	1	0	0	0	12656	72	3	3	1121	3	PSG3	19	43243121	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	412711	43243121	15885862	1540	140846											
PSG3	5671	broad.mit.edu	37	chr19	43243165	43243165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtagaagaacgtccttcccCttggaaactttggttggctc	10	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:43243165C>A	uc002oue.2	-	2	273	c.141G>T	c.(139-141)AAG>AAT	p.K47N	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.K69N	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	47	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CGTCCTTCCCCTTGGAAACTT	0.463													A	43243165	C	A	43243165	3	1	274	1	0	0	0	0	1	0	0	0	12656	680	24	5	1165	5	PSG3	19	43243165	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	44	43243165	15885818	1541	140847											
RELB	5971	broad.mit.edu	37	chr19	45515423	45515423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacctggtcatcacggaGcagcccaagcagcgcggcat	12	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:45515423G>A	uc002paj.1	+	5	519	c.393G>A	c.(391-393)GAG>GAA	p.E131E		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	131	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCATCACGGAGCAGCCCAAGC	0.751													A	45515423	G	A	45515423	2	1	274	1	0	0	0	0	0	0	0	1	13217	962	34	2		2	RELB	19	45515423	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2272258	45515423	13613560	1542	140848											
MARK4	57787	broad.mit.edu	37	chr19	45805817	45805817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcctgcacgggggtgCgggcgggcccgagcccctgt	19	15	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:45805817C>T	uc002pbb.1	+	17	2113	c.2108C>T	c.(2107-2109)GCG>GTG	p.A703V	MARK4_uc002pba.1_3'UTR			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	703	KA1.				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			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACGGGGGTGCGGGCGGGCCC	0.746													T	45805817	C	T	45805817	3	4	274	1	0	0	0	0	1	0	0	0	9315	783	27	1		1	MARK4	19	45805817	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	290394	45805817	13323166	1543	140849											
QPCTL	54814	broad.mit.edu	37	chr19	46206208	46206208	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcccttccctgctgtctgGcacacccctgcggacaccga	9	19	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:46206208G>A	uc010xxr.1	+	7	1271	c.1050G>A	c.(1048-1050)TGG>TGA	p.W350*	QPCTL_uc010ekn.2_Nonsense_Mutation_p.W256*	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	350					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			skin(1)	1		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)		CTGCTGTCTGGCACACCCCTG	0.602													A	46206208	G	A	46206208	4	1	274	1	0	0	0	0	0	1	0	0	12875	1212	42	2	1076	2	QPCTL	19	46206208	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	400391	46206208	12922775	1544	140850											
HIF3A	64344	broad.mit.edu	37	chr19	46825200	46825200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccccgctggccacaCggcacccccaaagtcctctt	7	21	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:46825200C>T	uc002peh.2	+	10	1341	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	HIF3A_uc002peg.3_Missense_Mutation_p.R438W|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.R382W|HIF3A_uc002pej.1_Missense_Mutation_p.R369W|HIF3A_uc002pek.2_Missense_Mutation_p.R382W|HIF3A_uc010xxy.1_Missense_Mutation_p.R369W|HIF3A_uc002pel.2_Missense_Mutation_p.R436W|HIF3A_uc010xxz.1_Missense_Mutation_p.R387W	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		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)		GCTGGCCACACGGCACCCCCA	0.637													T	46825200	C	T	46825200	3	4	274	1	0	0	0	0	1	0	0	0	7105	527	19	1	1374	1	HIF3A	19	46825200	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	618992	46825200	12303783	1545	140851											
SLC8A2	6543	broad.mit.edu	37	chr19	47933560	47933560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggccagcgtgccagtgCgcacctcgaaggggcggccc	16	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:47933560C>T	uc002pgx.2	-	10	2830	c.2552G>A	c.(2551-2553)CGC>CAC	p.R851H	SLC8A2_uc010xyq.1_Missense_Mutation_p.R607H|SLC8A2_uc010xyr.1_Missense_Mutation_p.R314H|SLC8A2_uc010ele.2_Silent_p.A877A	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	851	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		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)		CGTGCCAGTGCGCACCTCGAA	0.701													T	47933560	C	T	47933560	3	4	274	1	0	0	0	0	1	0	0	0	14707	768	27	1	217	1	SLC8A2	19	47933560	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1108360	47933560	11195423	1546	140852											
FAM83E	54854	broad.mit.edu	37	chr19	49113248	49113248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccccgcacgacacggaCatccacgttctgttggtgtg	12	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49113248C>T	uc002pjn.2	-	3	708	c.643G>A	c.(643-645)GTC>ATC	p.V215I		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	215										ovary(1)	1		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)		ACGACACGGACATCCACGTTC	0.637													T	49113248	C	T	49113248	3	4	274	1	0	0	0	0	1	0	0	0	5637	478	17	4	805	4	FAM83E	19	49113248	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1179688	49113248	10015735	1547	140853											
BCAT2	587	broad.mit.edu	37	chr19	49303509	49303509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggggcggaagaggcGcacctgctggtctttgcctt	16	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49303509G>A	uc002pkr.2	-	4	383	c.346C>T	c.(346-348)CGC>TGC	p.R116C	BCAT2_uc002pkp.2_Missense_Mutation_p.R76C|BCAT2_uc002pkq.3_Missense_Mutation_p.R76C|BCAT2_uc002pks.2_Missense_Mutation_p.R76C|BCAT2_uc002pkt.2_Missense_Mutation_p.R24C|BCAT2_uc010emh.1_Missense_Mutation_p.R116C|BCAT2_uc010emi.1_Missense_Mutation_p.R24C|BCAT2_uc002pku.1_Missense_Mutation_p.R76C|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	116						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		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)	CGGAAGAGGCGCACCTGCTGG	0.657													A	49303509	G	A	49303509	3	1	274	1	0	0	0	0	1	0	0	0	1355	1087	38	1	864	1	BCAT2	19	49303509	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	190261	49303509	9825474	1548	140854											
PPFIA3	8541	broad.mit.edu	37	chr19	49651343	49651343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccatggccccagatcCtggcatatggcgacatgaac	10	15	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49651343C>T	uc002pmr.2	+	24	3171	c.2839C>T	c.(2839-2841)CTG>TTG	p.L947L	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.L806L|PPFIA3_uc002pmt.2_Silent_p.L86L|PPFIA3_uc002pmu.1_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	947						cell surface|cytoplasm	protein binding			lung(1)	1		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)		GCCCCAGATCCTGGCATATGG	0.607													T	49651343	C	T	49651343	2	4	274	1	0	0	0	0	0	0	0	1	12311	680	24	4		4	PPFIA3	19	49651343	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	347834	49651343	9477640	1549	140855											
HRC	3270	broad.mit.edu	37	chr19	49657832	49657832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacatcctcatcctcttcActcccatggcctcggtgcct	7	17	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49657832A>G	uc002pmv.2	-	1	850	c.663T>C	c.(661-663)AGT>AGC	p.S221S		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	221	4 X tandem repeats, acidic.|2-4.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		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)		CATCCTCTTCACTCCCATGGC	0.368													G	49657832	A	G	49657832	2	3	274	1	0	0	0	0	0	0	0	1	7352	156	6	3		3	HRC	19	49657832	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6489	49657832	9471151	1550	140856											
ALDH16A1	126133	broad.mit.edu	37	chr19	49973636	49973636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaggggctgcccgcgggCctgggaccaggaggccgagg	21	12	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:49973636C>T	uc002pnt.2	+	17	2437	c.2321C>T	c.(2320-2322)GCC>GTC	p.A774V	ALDH16A1_uc010yar.1_Missense_Mutation_p.A723V|ALDH16A1_uc010yas.1_Missense_Mutation_p.A609V|ALDH16A1_uc010yat.1_Missense_Mutation_p.A611V	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	774							oxidoreductase activity|protein binding			skin(1)	1		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)		TGCCCGCGGGCCTGGGACCAG	0.701													T	49973636	C	T	49973636	3	4	274	1	0	0	0	0	1	0	0	0	488	739	26	2	2387	2	ALDH16A1	19	49973636	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	315804	49973636	9155347	1551	140857											
PRRG2	5639	broad.mit.edu	37	chr19	50086849	50086849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctgagtagccataccCggattccaagagccaaccac	8	15	0	2	rs141947949		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:50086849C>T	uc002pon.3	+	3	301	c.136C>T	c.(136-138)CGG>TGG	p.R46W	PRRG2_uc010yaz.1_Missense_Mutation_p.R23W	NM_000951	NP_000942	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	46						extracellular region|integral to plasma membrane	calcium ion binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		TAGCCATACCCGGATTCCAAG	0.592													T	50086849	C	T	50086849	3	4	274	1	0	0	0	0	1	0	0	0	12606	643	23	1	142	1	PRRG2	19	50086849	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	113213	50086849	9042134	1552	140858											
CPT1C	126129	broad.mit.edu	37	chr19	50209247	50209247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgcatggggacccactcccGaaacagcctgctttccccga	9	18	0	0	rs151010811		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:50209247G>A	uc002ppj.2	+	10	1251	c.1046G>A	c.(1045-1047)CGA>CAA	p.R349Q	CPT1C_uc002ppl.3_Missense_Mutation_p.R315Q|CPT1C_uc002ppi.2_Missense_Mutation_p.R266Q|CPT1C_uc002ppk.2_Missense_Mutation_p.R338Q|CPT1C_uc010eng.2_Missense_Mutation_p.R349Q|CPT1C_uc010enh.2_Missense_Mutation_p.R349Q|CPT1C_uc010ybc.1_Missense_Mutation_p.R220Q|CPT1C_uc010eni.1_Missense_Mutation_p.R6Q	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	349	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		ACCCACTCCCGAAACAGCCTG	0.622													A	50209247	G	A	50209247	3	1	274	1	0	0	0	0	1	0	0	0	3833	1058	37	1	1080	1	CPT1C	19	50209247	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	122398	50209247	8919736	1553	140859											
FAM71E1	112703	broad.mit.edu	37	chr19	50971041	50971041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctcgagctgacaccgGcttttgtcgtggacaaagag	12	10	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:50971041G>A	uc002psh.2	-	4	943	c.585C>T	c.(583-585)AGC>AGT	p.S195S	FAM71E1_uc002psg.2_Silent_p.S179S|FAM71E1_uc002psi.2_RNA	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	hypothetical protein LOC112703	195										breast(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCTGACACCGGCTTTTGTCGT	0.622													A	50971041	G	A	50971041	2	1	274	1	0	0	0	0	0	0	0	1	5611	1194	42	2		2	FAM71E1	19	50971041	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	761794	50971041	8157942	1554	140860											
SHANK1	50944	broad.mit.edu	37	chr19	51170839	51170839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccgtccccagctgcaGcaggaggggccccaccccgg	15	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:51170839G>A	uc002psx.1	-	22	4397	c.4378C>T	c.(4378-4380)CTG>TTG	p.L1460L	SHANK1_uc002psw.1_Silent_p.L844L	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1460					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCAGCTGCAGCAGGAGGGGC	0.771													A	51170839	G	A	51170839	2	1	274	1	0	0	0	0	0	0	0	1	14264	962	34	2		2	SHANK1	19	51170839	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	199798	51170839	7958144	1555	140861											
KLK4	9622	broad.mit.edu	37	chr19	51411835	51411835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacacacccgtgagctcacCgttcgccagcagaccccagc	8	19	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:51411835C>T	uc002pua.1	-	3	475	c.475G>A	c.(475-477)GGC>AGC	p.G159S	KLK4_uc002pty.1_Missense_Mutation_p.G110R|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Missense_Mutation_p.G64S|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_Missense_Mutation_p.G64S|KLK4_uc002pud.1_Missense_Mutation_p.G64S	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	159	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637													T	51411835	C	T	51411835	3	4	274	1	0	0	0	0	1	0	0	0	8406	666	23	1	301	1	KLK4	19	51411835	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	240996	51411835	7717148	1556	140862											
SIGLEC8	27181	broad.mit.edu	37	chr19	51957485	51957485	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactcacctgagaggccgaGcccctgatggcctttgcatc	10	15	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:51957485G>T	uc002pwt.2	-	6	1300	c.1233C>A	c.(1231-1233)GGC>GGA	p.G411G	SIGLEC8_uc010yda.1_Silent_p.G302G|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.G318G	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	411	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGAGGCCGAGCCCCTGATGG	0.602													T	51957485	G	T	51957485	2	4	274	1	0	0	0	0	0	0	0	1	14314	958	34	5		5	SIGLEC8	19	51957485	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	545650	51957485	7171498	1557	140863											
ZNF836	162962	broad.mit.edu	37	chr19	52663747	52663747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttcctgtagttctccAacatcacatcccagtacaaa	5	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:52663747A>G	uc010ydi.1	-	4	487	c.113T>C	c.(112-114)TTG>TCG	p.L38S	ZNF836_uc010ydj.1_Missense_Mutation_p.L38S	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTAGTTCTCCAACATCACATC	0.443													G	52663747	A	G	52663747	3	3	274	1	0	0	0	0	1	0	0	0	18184	131	5	3	2703	3	ZNF836	19	52663747	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	706262	52663747	6465236	1558	140864											
ZNF347	84671	broad.mit.edu	37	chr19	53644716	53644716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattcatgacatttgtaaggCttttctccggtgtgaattac	8	8	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:53644716C>A	uc002qbb.1	-	5	1434	c.1365G>T	c.(1363-1365)AAG>AAT	p.K455N	ZNF347_uc010eql.1_Missense_Mutation_p.K456N|ZNF347_uc002qbc.1_Missense_Mutation_p.K456N	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		ATTTGTAAGGCTTTTCTCCGG	0.428													A	53644716	C	A	53644716	3	1	274	1	0	0	0	0	1	0	0	0	17858	796	28	5	1158	5	ZNF347	19	53644716	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	980969	53644716	5484267	1559	140865											
LENG1	79165	broad.mit.edu	37	chr19	54660654	54660654	+	Frame_Shift_Del	DEL	G	G	-													catctggggctgggccgggcGgggggccccctcgccctggg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:54660653_54660653CG>C	uc002qdm.3	-	2	436	c.423_423CG>G	c.(421-423)ccgfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	141										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCC	0.637													-	54660654	G	-	54660654	7	5	274	1	0	1	0	1	0	0	0	0	8723	1116	39	0	380	0	LENG1	19	54660654	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	1015938	54660654	4468329	1560	140866											
LENG8	114823	broad.mit.edu	37	chr19	54967828	54967828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaggcacgatctggcgCccaccaagcgcagtcgaaag	11	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:54967828C>A	uc002qfv.1	+	10	1492	c.1348C>A	c.(1348-1350)CCC>ACC	p.P450T	LENG8_uc002qfw.2_Missense_Mutation_p.P487T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	450							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGATCTGGCGCCCACCAAGCG	0.657													A	54967828	C	A	54967828	3	1	274	1	0	0	0	0	1	0	0	0	8724	739	26	5	1497	5	LENG8	19	54967828	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	307174	54967828	4161155	1561	140867											
RDH13	112724	broad.mit.edu	37	chr19	55556513	55556513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcactttcagcccaaaGcctccgggccacctcctcat	9	18	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:55556513G>T	uc002qio.3	-	7	1110	c.925C>A	c.(925-927)CTT>ATT	p.L309I	RDH13_uc002qip.2_Missense_Mutation_p.L238I|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	309							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	TCAGCCCAAAGCCTCCGGGCC	0.617													T	55556513	G	T	55556513	3	4	274	1	0	0	0	0	1	0	0	0	13192	971	34	5	74	5	RDH13	19	55556513	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	588685	55556513	3572470	1562	140868											
NLRP5	126206	broad.mit.edu	37	chr19	56565026	56565026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaagtgtcatctcaccGccgcgtgctgtgagagtctg	13	10	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:56565026G>A	uc002qmj.2	+	13	3151	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	NLRP5_uc002qmi.2_Missense_Mutation_p.A1032T	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1051	LRR 11.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCATCTCACCGCCGCGTGCTG	0.567													A	56565026	G	A	56565026	3	1	274	1	0	0	0	0	1	0	0	0	10480	1087	38	1	3201	1	NLRP5	19	56565026	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1008513	56565026	2563957	1563	140869											
ZNF549	256051	broad.mit.edu	37	chr19	58050284	58050284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accagaaggtacatataacaGaagagccctagcaattgttg	9	8	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:58050284G>C	uc002qpb.1	+	4	2161	c.1912G>C	c.(1912-1914)GAA>CAA	p.E638Q	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.E625Q	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(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)		ACATATAACAGAAGAGCCCTA	0.438													C	58050284	G	C	58050284	3	2	274	1	0	0	0	0	1	0	0	0	17978	943	33	5	1883	5	ZNF549	19	58050284	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1485258	58050284	1078699	1564	140870											
ZBTB45	84878	broad.mit.edu	37	chr19	59027824	59027824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacgtcttgcgacagtggCtgcactcatacgtaggtggc	13	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr19:59027824C>A	uc002qtd.2	-	2	1509	c.1217G>T	c.(1216-1218)AGC>ATC	p.S406I	ZBTB45_uc002qte.2_Missense_Mutation_p.S406I|ZBTB45_uc002qtf.2_Missense_Mutation_p.S406I	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	406	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0165)|Lung(386;0.18)		GCGACAGTGGCTGCACTCATA	0.642													A	59027824	C	A	59027824	3	1	274	1	0	0	0	0	1	0	0	0	17543	797	28	5	326	5	ZBTB45	19	59027824	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	977540	59027824	101159	1565	140871											
ZNF343	79175	broad.mit.edu	37	chr20	2464233	2464233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggcttctctccagagtgCgtccgctcgtgtatgatgag	12	10	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:2464233C>T	uc002wge.1	-	6	1862	c.1374G>A	c.(1372-1374)ACG>ACA	p.T458T	ZNF343_uc010gao.1_Silent_p.T458T|ZNF343_uc002wgd.1_Silent_p.T368T	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	458	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTCCAGAGTGCGTCCGCTCGT	0.532													T	2464233	C	T	2464233	2	4	274	1	0	0	0	0	0	0	0	1	17855	755	27	1		1	ZNF343	20	2464233	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		2464233	60561287	1566	140872											
TMC2	117532	broad.mit.edu	37	chr20	2593877	2593877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtctgacatgctggtaaCgtacatcaccatcctgctgg	11	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:2593877C>T	uc002wgf.1	+	14	1796	c.1781C>T	c.(1780-1782)ACG>ATG	p.T594M	TMC2_uc002wgg.1_Missense_Mutation_p.T578M|TMC2_uc010zpw.1_Missense_Mutation_p.T426M|TMC2_uc010zpx.1_Missense_Mutation_p.T425M	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	594	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						ATGCTGGTAACGTACATCACC	0.557													T	2593877	C	T	2593877	3	4	274	1	0	0	0	0	1	0	0	0	15982	536	19	1	1835	1	TMC2	20	2593877	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	129644	2593877	60431643	1567	140873											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145314	3145314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcctccagccacacgCggcgctcctcggcgaagctg	10	19	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:3145314C>T	uc002wia.1	-	3	3206	c.1808G>A	c.(1807-1809)CGC>CAC	p.R603H	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R557H	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	603	Potential.					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CAGCCACACGCGGCGCTCCTC	0.711													T	3145314	C	T	3145314	3	4	274	1	0	0	0	0	1	0	0	0	12870	768	27	1	217	1	ProSAPiP1	20	3145314	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	551437	3145314	59880206	1568	140874											
RNF24	11237	broad.mit.edu	37	chr20	3944542	3944542	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaatcaagtagcaacagaaGagtaaactaaggatgaagac	9	6	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:3944542G>T	uc002wkh.2	-	2	393	c.123C>A	c.(121-123)CTC>CTA	p.L41L	RNF24_uc002wki.2_Silent_p.L62L|RNF24_uc002wkj.2_Silent_p.L41L	NM_007219	NP_009150	Q9Y225	RNF24_HUMAN	ring finger protein 24 isoform 1	41	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0						AGCAACAGAAGAGTAAACTAA	0.303													T	3944542	G	T	3944542	2	4	274	1	0	0	0	0	0	0	0	1	13484	929	33	5		5	RNF24	20	3944542	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	799228	3944542	59080978	1569	140875											
PRND	23627	broad.mit.edu	37	chr20	4705463	4705463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagttccccgatggcaTccactacaacggctgctctg	10	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:4705463T>A	uc002wkz.2	+	2	337	c.266T>A	c.(265-267)ATC>AAC	p.I89N		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	89	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0						CCCGATGGCATCCACTACAAC	0.592													A	4705463	T	A	4705463	3	1	274	1	0	0	0	0	1	0	0	0	12543	1435	50	5	268	5	PRND	20	4705463	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	760921	4705463	58320057	1570	140876											
PRND	23627	broad.mit.edu	37	chr20	4705548	4705549	+	Frame_Shift_Ins	INS	-	-	G													ccacccaggcggcgaaccagINSggggagttccagaagccaga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:4705547_4705548A>AG	uc021waf.1	+	0	350_351	c.350_351A>AG	c.(349-351)cagfs	p.Q117fs	PRND_uc002wkz.3_Frame_Shift_Ins_p.Q117fs	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	117	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCGGCGAACCAGGGGGAGTTCC	0.589													G	4705549	-	G	4705548	7	5	274	1	0	1	1	0	0	0	0	0	12543	991	35	0	353	0	PRND	20	4705548	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	85	4705548	58319972	1571	140877											
GPCPD1	56261	broad.mit.edu	37	chr20	5559030	5559030	+	Frame_Shift_Del	DEL	A	A	-													tgcagtaactactcacttcgAaaaaatcaaagattagttcc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:5559029_5559029GA>G	uc002wme.4	-	7	915	c.702_702TC>C	c.(700-702)ttcfs	p.F234fs	GPCPD1_uc002wmd.4_Frame_Shift_Del_p.F53fs	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	234					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						TACTCACTTCGAAAAAATCAA	0.403													-	5559030	A	-	5559030	7	5	274	1	0	1	0	1	0	0	0	0	6603	246	9	0	1369	0	GPCPD1	20	5559030	Frame_Shift_Del	DEL	A	TCGA-HU-A4GU-01A-11D-A25D-08	853482	5559030	57466490	1572	140878											
MCM8	84515	broad.mit.edu	37	chr20	5966634	5966634	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaagtacattggctatgctCggcagtatgtgtacccaagg	12	8	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:5966634C>A	uc002wmi.2	+	16	2397	c.2020C>A	c.(2020-2022)CGG>AGG	p.R674R	MCM8_uc002wmj.2_Silent_p.R658R|MCM8_uc002wmk.2_Silent_p.R714R|MCM8_uc002wml.2_Silent_p.R674R|MCM8_uc010gbp.2_Silent_p.R627R|MCM8_uc002wmm.2_Silent_p.R212R	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	674					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			skin(1)	1						TGGCTATGCTCGGCAGTATGT	0.463													A	5966634	C	A	5966634	2	1	274	1	0	0	0	0	0	0	0	1	9393	875	31	5		5	MCM8	20	5966634	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	407604	5966634	57058886	1573	140879											
LRRN4	164312	broad.mit.edu	37	chr20	6022874	6022874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatcccgcagctggcgcGcacatagtgtctgctgccct	12	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:6022874G>A	uc002wmo.2	-	5	1241	c.1017C>T	c.(1015-1017)TGC>TGT	p.C339C		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	339	Extracellular (Potential).					integral to membrane				skin(3)	3						CAGCTGGCGCGCACATAGTGT	0.622													A	6022874	G	A	6022874	2	1	274	1	0	0	0	0	0	0	0	1	9037	1079	38	1		1	LRRN4	20	6022874	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	56240	6022874	57002646	1574	140880											
LRRN4	164312	broad.mit.edu	37	chr20	6031513	6031513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggagtcctgacagtccaGctgctgcaggttgggggtca	17	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:6031513G>A	uc002wmo.2	-	3	996	c.772C>T	c.(772-774)CTG>TTG	p.L258L	LRRN4_uc002wmp.2_Silent_p.L258L	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	258	Extracellular (Potential).|LRR 9.					integral to membrane				skin(3)	3						TGACAGTCCAGCTGCTGCAGG	0.542													A	6031513	G	A	6031513	2	1	274	1	0	0	0	0	0	0	0	1	9037	962	34	2		2	LRRN4	20	6031513	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	8639	6031513	56994007	1575	140881											
FERMT1	55612	broad.mit.edu	37	chr20	6096554	6096554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcggcagacgaaggcgcaGcattttatgctgaggggtga	15	7	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:6096554G>A	uc002wmr.2	-	3	1078	c.289C>T	c.(289-291)CTG>TTG	p.L97L	FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Silent_p.L97L	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	97	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						CGAAGGCGCAGCATTTTATGC	0.483													A	6096554	G	A	6096554	2	1	274	1	0	0	0	0	0	0	0	1	5817	962	34	2		2	FERMT1	20	6096554	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	65041	6096554	56928966	1576	140882											
PLCB1	23236	broad.mit.edu	37	chr20	8678275	8678275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttggtgttttatagctGgccaactggctggaaactcc	11	8	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:8678275G>A	uc002wnb.2	+	11	1015	c.1012G>A	c.(1012-1014)GGC>AGC	p.G338S	PLCB1_uc010zrb.1_Missense_Mutation_p.G237S|PLCB1_uc002wna.2_Missense_Mutation_p.G338S|PLCB1_uc002wnc.1_Missense_Mutation_p.G237S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	338	PI-PLC X-box.				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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TTTTATAGCTGGCCAACTGGC	0.498													A	8678275	G	A	8678275	3	1	274	1	0	0	0	0	1	0	0	0	12027	1348	47	4	1054	4	PLCB1	20	8678275	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2581721	8678275	54347245	1577	140883											
PLCB1	23236	broad.mit.edu	37	chr20	8696934	8696934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagcaagccaagatggCggagtactgccgactgatct	12	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:8696934C>T	uc002wnb.2	+	13	1277	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	PLCB1_uc010zrb.1_Missense_Mutation_p.A324V|PLCB1_uc002wna.2_Missense_Mutation_p.A425V|PLCB1_uc002wnc.1_Missense_Mutation_p.A324V|PLCB1_uc002wnd.1_Missense_Mutation_p.A2V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	425	PI-PLC X-box.				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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GCCAAGATGGCGGAGTACTGC	0.468													T	8696934	C	T	8696934	3	4	274	1	0	0	0	0	1	0	0	0	12027	768	27	1	1324	1	PLCB1	20	8696934	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	18659	8696934	54328586	1578	140884											
PLCB4	5332	broad.mit.edu	37	chr20	9368189	9368189	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggaaaagcaatgtgtacaGatatcctttttaaggtaact	8	5	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:9368189G>T	uc002wnf.2	+	14	1280	c.1144G>T	c.(1144-1146)GAT>TAT	p.D382Y	PLCB4_uc010gbw.1_Missense_Mutation_p.D382Y|PLCB4_uc010gbx.2_Missense_Mutation_p.D382Y|PLCB4_uc002wne.2_Missense_Mutation_p.D382Y|PLCB4_uc002wnh.2_Missense_Mutation_p.D229Y	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	382	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AATGTGTACAGATATCCTTTT	0.348													T	9368189	G	T	9368189	3	4	274	1	0	0	0	0	1	0	0	0	12030	942	33	5	1190	5	PLCB4	20	9368189	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	671255	9368189	53657331	1579	140885											
RBBP9	10741	broad.mit.edu	37	chr20	18470617	18470617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcttctcccactgccAggggcgggtgaagtatccta	11	12	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:18470617A>G	uc002wqy.2	-	5	428	c.352T>C	c.(352-354)TGG>CGG	p.W118R		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	118						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						TCCCACTGCCAGGGGCGGGTG	0.483													G	18470617	A	G	18470617	3	3	274	1	0	0	0	0	1	0	0	0	13106	188	7	3	212	3	RBBP9	20	18470617	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	9102428	18470617	44554903	1580	140886											
SLC24A3	57419	broad.mit.edu	37	chr20	19496186	19496186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggatagaagacaaggtgCggtggtcctccatgtgctct	14	9	1	2	rs144636987		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:19496186C>T	uc002wrl.2	+	3	523	c.326C>T	c.(325-327)GCG>GTG	p.A109V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	109	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						AGACAAGGTGCGGTGGTCCTC	0.542													T	19496186	C	T	19496186	3	4	274	1	0	0	0	0	1	0	0	0	14467	768	27	1	336	1	SLC24A3	20	19496186	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1025569	19496186	43529334	1581	140887											
C20orf26	26074	broad.mit.edu	37	chr20	20243636	20243636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctgatattagtcaacacCtgacaaacagggaggttccc	10	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:20243636C>A	uc002wru.2	+	21	2441	c.2365C>A	c.(2365-2367)CTG>ATG	p.L789M	C20orf26_uc010zse.1_Missense_Mutation_p.L769M|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.L145M	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	789										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TAGTCAACACCTGACAAACAG	0.458													A	20243636	C	A	20243636	3	1	274	1	0	0	0	0	1	0	0	0	2106	680	24	5	2475	5	C20orf26	20	20243636	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	747450	20243636	42781884	1582	140888											
RALGAPA2	57186	broad.mit.edu	37	chr20	20601137	20601138	+	Frame_Shift_Ins	INS	-	-	T													cagtctcggaaaatcctaatINSttttcagcatcttcttgggc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:20601136_20601137A>AT	uc002wrz.3	-	10	1514_1515	c.1371_1372T>AT	c.(1369-1374)aaattafs	p.K457fs	RALGAPA2_uc002wry.3_Frame_Shift_Ins_p.K72fs|RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	457					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization 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						GAAAATCCTAATTTTTCAGCAT	0.371													T	20601138	-	T	20601137	7	5	274	1	0	1	1	0	0	0	0	0	13014	1490	52	0	4366	0	RALGAPA2	20	20601137	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	357501	20601137	42424383	1583	140889											
NKX2-4	644524	broad.mit.edu	37	chr20	21377059	21377059	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcttccttcgcggagcggcTgccgccgccgccgcgtgcag	15	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:21377059T>C	uc010gcz.2	-	2	565	c.555A>G	c.(553-555)GCA>GCG	p.A185A		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	185	Poly-Ala.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCGGAGCGGCTGCCGCCGCCG	0.736													C	21377059	T	C	21377059	2	2	274	1	0	0	0	0	0	0	0	1	10452	1567	55	3		3	NKX2-4	20	21377059	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	775922	21377059	41648461	1584	140890											
NKX2-4	644524	broad.mit.edu	37	chr20	21377937	21377937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccccaggccgggtggcGcgccgtccatggcgccgctg	17	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:21377937G>A	uc010gcz.2	-	1	111	c.101C>T	c.(100-102)GCG>GTG	p.A34V		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	34					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						gccgggtggcgcgccgTCCAT	0.512													A	21377937	G	A	21377937	3	1	274	1	0	0	0	0	1	0	0	0	10452	1087	38	1	971	1	NKX2-4	20	21377937	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	878	21377937	41647583	1585	140891											
THBD	7056	broad.mit.edu	37	chr20	23028480	23028480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccttggaaggggccgcGcacttgtactccatcttggc	11	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:23028480G>A	uc002wss.2	-	1	1822	c.1662C>T	c.(1660-1662)TGC>TGT	p.C554C	THBD_uc002wst.1_RNA	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	554	Cytoplasmic (Potential).				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				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AAGGGGCCGCGCACTTGTACT	0.682													A	23028480	G	A	23028480	2	1	274	1	0	0	0	0	0	0	0	1	15849	1079	38	1		1	THBD	20	23028480	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1650543	23028480	39997040	1586	140892											
CD93	22918	broad.mit.edu	37	chr20	23065616	23065616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggagcagtgaaatgagCcatctgtgttggtgcagccc	13	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:23065616C>T	uc002wsv.2	-	1	1362	c.1214G>A	c.(1213-1215)GGC>GAC	p.G405D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	405	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGAAATGAGCCATCTGTGTT	0.672													T	23065616	C	T	23065616	3	4	274	1	0	0	0	0	1	0	0	0	3047	739	26	2	752	2	CD93	20	23065616	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	37136	23065616	39959904	1587	140893											
PYGB	5834	broad.mit.edu	37	chr20	25277134	25277134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgacctgcagatcccGccccccaacatcccccggga	7	23	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:25277134G>A	uc002wup.2	+	20	2617	c.2508G>A	c.(2506-2508)CCG>CCA	p.P836P	ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	836				IPPPNIPRD -> LQHLPHPEWESGGATCWAPPELCTHLAM Y (in Ref. 1; AAA59597).	glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TGCAGATCCCGCCCCCCAACA	0.602													A	25277134	G	A	25277134	2	1	274	1	0	0	0	0	0	0	0	1	12860	1074	38	1		1	PYGB	20	25277134	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2211518	25277134	37748386	1588	140894											
BPIL3	128859	broad.mit.edu	37	chr20	31622664	31622664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcctccccgtgttcaAgagtgagggctgtgaggtca	15	10	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:31622664A>C	uc010zuc.1	+	4	398	c.398A>C	c.(397-399)AAG>ACG	p.K133T	BPIL3_uc010zud.1_Missense_Mutation_p.K72T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	133						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CCCGTGTTCAAGAGTGAGGGC	0.572													C	31622664	A	C	31622664	3	2	274	1	0	0	0	0	1	0	0	0	1493	72	3	5	412	5	BPIL3	20	31622664	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6345530	31622664	31402856	1589	140895											
C20orf186	149954	broad.mit.edu	37	chr20	31671497	31671497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagttgccactggggCggtgggcccaggtggtttgc	18	10	0	0	rs143050216	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:31671497C>T	uc010zue.1	+	3	509	c.494C>T	c.(493-495)GCG>GTG	p.A165V		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	165	Gly-rich.					cytoplasm|extracellular region	lipid binding				0						GCCACTGGGGCGGTGGGCCCA	0.677													T	31671497	C	T	31671497	3	4	274	1	0	0	0	0	1	0	0	0	2098	768	27	1	504	1	C20orf186	20	31671497	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	48833	31671497	31354023	1590	140896											
E2F1	1869	broad.mit.edu	37	chr20	32266038	32266038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcctcggagagcaggcGcagctgcgtagtacagatat	14	9	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:32266038G>A	uc002wzu.3	-	4	834	c.694C>T	c.(694-696)CGC>TGC	p.R232C		NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	232	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				0						GAGAGCAGGCGCAGCTGCGTA	0.597													A	32266038	G	A	32266038	3	1	274	1	0	0	0	0	1	0	0	0	4866	1087	38	1	635	1	E2F1	20	32266038	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	594541	32266038	30759482	1591	140897											
PXMP4	11264	broad.mit.edu	37	chr20	32298462	32298462	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccttgtatgtaggactGcagggcacggagacccttgt	13	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:32298462G>A	uc002wzv.2	-	3	397	c.274C>T	c.(274-276)CAG>TAG	p.Q92*	PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Silent_p.C98C	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	92						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						ATGTAGGACTGCAGGGCACGG	0.552													A	32298462	G	A	32298462	4	1	274	1	0	0	0	0	0	1	0	0	12851	1328	46	2	372	2	PXMP4	20	32298462	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	32424	32298462	30727058	1592	140898											
MMP24	10893	broad.mit.edu	37	chr20	33851679	33851679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccagcgccatcatggcGcccttctaccagtacatgga	9	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:33851679G>A	uc002xbu.2	+	5	906	c.903G>A	c.(901-903)GCG>GCA	p.A301A	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	301	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCATCATGGCGCCCTTCTACC	0.622													A	33851679	G	A	33851679	2	1	274	1	0	0	0	0	0	0	0	1	9661	1074	38	1		1	MMP24	20	33851679	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1553217	33851679	29173841	1593	140899											
CEP250	11190	broad.mit.edu	37	chr20	34099444	34099444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagcactacccaagccGcctccaggtagcagccacag	9	19	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:34099444G>A	uc002xcm.2	+	36	7989	c.7318G>A	c.(7318-7320)GCC>ACC	p.A2440T	CEP250_uc010zve.1_Missense_Mutation_p.A1808T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	2440					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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TACCCAAGCCGCCTCCAGGTA	0.612													A	34099444	G	A	34099444	3	1	274	1	0	0	0	0	1	0	0	0	3252	1087	38	1	7444	1	CEP250	20	34099444	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	247765	34099444	28926076	1594	140900											
C20orf4	25980	broad.mit.edu	37	chr20	34832708	34832708	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctgaacctcctgtgcCggtcagaagcagccatgatg	12	13	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:34832708C>A	uc002xfc.1	+	3	940	c.847C>A	c.(847-849)CGG>AGG	p.R283R	C20orf4_uc002xfd.1_Silent_p.R283R|C20orf4_uc002xfe.1_Silent_p.R283R	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	283											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CCTCCTGTGCCGGTCAGAAGC	0.532													A	34832708	C	A	34832708	2	1	274	1	0	0	0	0	0	0	0	1	2111	643	23	5		5	C20orf4	20	34832708	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	733264	34832708	28192812	1595	140901											
C20orf4	25980	broad.mit.edu	37	chr20	34843569	34843569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagctgaaaagttccaaGctcacctgaccaagaagttc	8	10	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:34843569G>A	uc002xfc.1	+	4	1150	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T	C20orf4_uc002xfd.1_Intron|C20orf4_uc002xfe.1_Missense_Mutation_p.A353T	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	353											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AAAGTTCCAAGCTCACCTGAC	0.542													A	34843569	G	A	34843569	3	1	274	1	0	0	0	0	1	0	0	0	2111	971	34	2	1067	2	C20orf4	20	34843569	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	10861	34843569	28181951	1596	140902											
PPP1R16B	26051	broad.mit.edu	37	chr20	37546809	37546809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactcgcagaaccccaggCtggagaagcccgtgctactc	10	16	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:37546809C>T	uc002xje.2	+	11	1393	c.1204C>T	c.(1204-1206)CTG>TTG	p.L402L	PPP1R16B_uc010ggc.2_Silent_p.L360L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	402					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GAACCCCAGGCTGGAGAAGCC	0.502													T	37546809	C	T	37546809	2	4	274	1	0	0	0	0	0	0	0	1	12366	796	28	2		2	PPP1R16B	20	37546809	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2703240	37546809	25478711	1597	140903											
PPP1R16B	26051	broad.mit.edu	37	chr20	37546995	37546995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcaaccctggcgtggccGacgccaccccgccctggagc	13	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:37546995G>A	uc002xje.2	+	11	1579	c.1390G>A	c.(1390-1392)GAC>AAC	p.D464N	PPP1R16B_uc010ggc.2_Missense_Mutation_p.D422N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	464					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TGGCGTGGCCGACGCCACCCC	0.642													A	37546995	G	A	37546995	3	1	274	1	0	0	0	0	1	0	0	0	12366	1058	37	1	1428	1	PPP1R16B	20	37546995	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	186	37546995	25478525	1598	140904											
DHX35	60625	broad.mit.edu	37	chr20	37632521	37632521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgagcaaatgaaagtgTttgaaagggtgtcacgcagt	12	6	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:37632521T>C	uc002xjh.2	+	11	993	c.982T>C	c.(982-984)TTT>CTT	p.F328L	DHX35_uc010zwa.1_Missense_Mutation_p.F173L|DHX35_uc010zwb.1_Missense_Mutation_p.F173L|DHX35_uc010zwc.1_Missense_Mutation_p.F297L	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	328	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AATGAAAGTGTTTGAAAGGGT	0.488													C	37632521	T	C	37632521	3	2	274	1	0	0	0	0	1	0	0	0	4508	1725	60	3	1024	3	DHX35	20	37632521	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	85526	37632521	25392999	1599	140905											
MAFB	9935	broad.mit.edu	37	chr20	39317182	39317182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccaccgcgtcctcgggCgtcaggttgagcgcctcggg	15	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:39317182C>T	uc002xji.2	-	1	695	c.309G>A	c.(307-309)ACG>ACA	p.T103T		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	103					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CGTCCTCGGGCGTCAGGTTGA	0.577			T	IGH@	MM								T	39317182	C	T	39317182	2	4	274	1	0	0	0	0	0	0	0	1	9158	755	27	1		1	MAFB	20	39317182	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1684661	39317182	23708338	1600	140906											
CHD6	84181	broad.mit.edu	37	chr20	40068644	40068644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctacgtggcttctcacctttCaggaatgtctgaggtcccat	9	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:40068644C>T	uc002xka.1	-	26	4181	c.4003G>A	c.(4003-4005)GAA>AAA	p.E1335K	CHD6_uc002xkb.1_Missense_Mutation_p.E101K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1335					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCTCACCTTTCAGGAATGTCT	0.522													T	40068644	C	T	40068644	3	4	274	1	0	0	0	0	1	0	0	0	3329	835	29	4	4192	4	CHD6	20	40068644	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	751462	40068644	22956876	1601	140907											
PTPRT	11122	broad.mit.edu	37	chr20	40713420	40713420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagcgcttggaggggggCgtgtcccggtaggcaggcca	20	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:40713420C>T	uc002xkg.2	-	29	4222	c.4038G>A	c.(4036-4038)ACG>ACA	p.T1346T	PTPRT_uc010ggj.2_Silent_p.T1365T|PTPRT_uc010ggi.2_Silent_p.T549T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1346	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		T -> M (in some colorectal cancers; reduced phosphatase activity).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGAGGGGGGCGTGTCCCGGT	0.592													T	40713420	C	T	40713420	2	4	274	1	0	0	0	0	0	0	0	1	12812	755	27	1		1	PTPRT	20	40713420	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	644776	40713420	22312100	1602	140908											
PTPRT	11122	broad.mit.edu	37	chr20	40730848	40730848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggtccagaggcagcacGtccatacttcgattcttatc	9	13	1	1	rs35010609		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:40730848G>A	uc002xkg.2	-	26	3814	c.3630C>T	c.(3628-3630)GAC>GAT	p.D1210D	PTPRT_uc010ggj.2_Silent_p.D1229D|PTPRT_uc010ggi.2_Silent_p.D413D	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1210	Cytoplasmic (Potential).|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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGGCAGCACGTCCATACTTC	0.587													A	40730848	G	A	40730848	2	1	274	1	0	0	0	0	0	0	0	1	12812	1136	40	1		1	PTPRT	20	40730848	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	17428	40730848	22294672	1603	140909											
KCNK15	60598	broad.mit.edu	37	chr20	43379275	43379275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccgcacccccagcccGcgccccccgggggcgcccga	13	24	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:43379275G>A	uc002xmr.2	+	2	853	c.789G>A	c.(787-789)CCG>CCA	p.P263P		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	263	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CCCCCAgcccgcgccccccgg	0.637													A	43379275	G	A	43379275	2	1	274	1	0	0	0	0	0	0	0	1	8062	1074	38	1		1	KCNK15	20	43379275	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2648427	43379275	19646245	1604	140910											
MATN4	8785	broad.mit.edu	37	chr20	43927120	43927120	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggacacatctaggaagtcCacaatctggttcacgaagcg	12	10	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:43927120C>A	uc002xnn.2	-	7	1303	c.1116G>T	c.(1114-1116)GTG>GTT	p.V372V	MATN4_uc002xno.2_Silent_p.V331V|MATN4_uc002xnp.2_Silent_p.V290V|MATN4_uc010zwr.1_Silent_p.V320V|MATN4_uc002xnr.1_Silent_p.V372V	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	413	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTAGGAAGTCCACAATCTGGT	0.627													A	43927120	C	A	43927120	2	1	274	1	0	0	0	0	0	0	0	1	9336	581	21	5		5	MATN4	20	43927120	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	547845	43927120	19098400	1605	140911											
MATN4	8785	broad.mit.edu	37	chr20	43933374	43933374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctcgaactcgaaagggCgcacgctgcgggagctgtca	15	11	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:43933374C>T	uc002xnn.2	-	3	324	c.137G>A	c.(136-138)CGC>CAC	p.R46H	MATN4_uc002xno.2_Missense_Mutation_p.R46H|MATN4_uc002xnp.2_Missense_Mutation_p.R46H|MATN4_uc010zwr.1_5'UTR|MATN4_uc002xnr.1_Missense_Mutation_p.R46H|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	46	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTCGAAAGGGCGCACGCTGCG	0.632													T	43933374	C	T	43933374	3	4	274	1	0	0	0	0	1	0	0	0	9336	768	27	1	1640	1	MATN4	20	43933374	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	6254	43933374	19092146	1606	140912											
PCIF1	63935	broad.mit.edu	37	chr20	44576240	44576240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggctttgccaagtgggCgccgacgcctgaacggctgc	14	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:44576240C>T	uc002xqs.2	+	17	2275	c.1961C>T	c.(1960-1962)GCG>GTG	p.A654V	PCIF1_uc002xqt.2_Silent_p.G262G|PCIF1_uc002xqu.2_Missense_Mutation_p.A123V	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	654						nucleus				skin(1)	1						GCCAAGTGGGCGCCGACGCCT	0.622													T	44576240	C	T	44576240	3	4	274	1	0	0	0	0	1	0	0	0	11580	768	27	1	2019	1	PCIF1	20	44576240	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	642866	44576240	18449280	1607	140913											
ZNF334	55713	broad.mit.edu	37	chr20	45131398	45131398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtgcagaataagattttCgttttgattgctggctttcc	10	7	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:45131398C>T	uc002xsc.2	-	5	764	c.580G>A	c.(580-582)GAA>AAA	p.E194K	ZNF334_uc002xsa.2_Missense_Mutation_p.E217K|ZNF334_uc002xsb.2_Missense_Mutation_p.E156K|ZNF334_uc002xsd.2_Missense_Mutation_p.E156K|ZNF334_uc010ghl.2_Missense_Mutation_p.E193K	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ATAAGATTTTCGTTTTGATTG	0.363													T	45131398	C	T	45131398	3	4	274	1	0	0	0	0	1	0	0	0	17848	893	31	1	1466	1	ZNF334	20	45131398	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	555158	45131398	17894122	1608	140914											
TP53RK	112858	broad.mit.edu	37	chr20	45315440	45315440	+	Frame_Shift_Del	DEL	T	T	-													ctcaggcgcacttcatctaaTttttttagcactggcctggc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:45315439_45315439AT>A	uc002xsk.3	-	1	938	c.715_715AT>T	c.(715-717)ttafs	p.L239fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	239	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				ACTTCATCTAATTTTTTTAGC	0.448													-	45315440	T	-	45315440	7	5	274	1	0	1	0	1	0	0	0	0	16387	1490	52	0	51	0	TP53RK	20	45315440	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	184042	45315440	17710080	1609	140915											
NCOA3	8202	broad.mit.edu	37	chr20	46268496	46268496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctctattcccacattGcctcttcggtctaatagcat	8	12	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:46268496G>A	uc002xtk.2	+	15	3088	c.2883G>A	c.(2881-2883)TTG>TTA	p.L961L	NCOA3_uc010ght.1_Silent_p.L956L|NCOA3_uc002xtl.2_Silent_p.L961L|NCOA3_uc002xtm.2_Silent_p.L961L|NCOA3_uc002xtn.2_Silent_p.L961L|NCOA3_uc010zyc.1_Silent_p.L756L	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	961					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			ovary(3)|lung(1)|skin(1)	5						TTCCCACATTGCCTCTTCGGT	0.473													A	46268496	G	A	46268496	2	1	274	1	0	0	0	0	0	0	0	1	10230	1310	46	2		2	NCOA3	20	46268496	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	953056	46268496	16757024	1610	140916											
ZNFX1	57169	broad.mit.edu	37	chr20	47866123	47866123	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaggcaggtattcctgGcacaggaagtacttgcacag	14	8	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:47866123G>T	uc002xui.2	-	14	3685	c.3438C>A	c.(3436-3438)TGC>TGA	p.C1146*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1146							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTATTCCTGGCACAGGAAGT	0.512													T	47866123	G	T	47866123	4	4	274	1	0	0	0	0	0	1	0	0	18202	1195	42	5	2322	5	ZNFX1	20	47866123	Nonsense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1597627	47866123	15159397	1611	140917											
B4GALT5	9334	broad.mit.edu	37	chr20	48257081	48257081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacatccataatagttgCgatcactttccggtatgtga	8	10	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:48257081C>T	uc002xuu.3	-	6	922	c.728G>A	c.(727-729)CGC>CAC	p.R243H		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	243	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ATAATAGTTGCGATCACTTTC	0.383													T	48257081	C	T	48257081	3	4	274	1	0	0	0	0	1	0	0	0	1274	768	27	1	454	1	B4GALT5	20	48257081	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	390958	48257081	14768439	1612	140918											
MOCS3	27304	broad.mit.edu	37	chr20	49576421	49576422	+	Frame_Shift_Ins	INS	-	-	G													taagcgactgctggattctgINSgggcattccacctgttgctg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:49576420_49576421T>TG	uc002xvy.1	+	0	1058_1059	c.1041_1042T>TG	c.(1039-1044)tctgggfs	p.S347fs	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	347	Rhodanese.				Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase 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						TGCTGGATTCTGGGGCATTCCA	0.55													G	49576422	-	G	49576421	7	5	274	1	0	1	1	0	0	0	0	0	9692	1348	47	0	1044	0	MOCS3	20	49576421	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	1319340	49576421	13449099	1613	140919											
NFATC2	4773	broad.mit.edu	37	chr20	50139752	50139752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggccgggtagatgtggCgaggcaggccggccttggat	18	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50139752C>T	uc002xwd.2	-	2	1248	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H	NFATC2_uc002xwc.2_Missense_Mutation_p.R343H|NFATC2_uc010zyv.1_Missense_Mutation_p.R124H|NFATC2_uc010zyw.1_Missense_Mutation_p.R124H|NFATC2_uc010zyx.1_Missense_Mutation_p.R323H|NFATC2_uc010zyy.1_Missense_Mutation_p.R124H|NFATC2_uc010zyz.1_Missense_Mutation_p.R124H|NFATC2_uc002xwe.2_Missense_Mutation_p.R323H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	343					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			ovary(2)	2	Hepatocellular(150;0.248)					GTAGATGTGGCGAGGCAGGCC	0.682													T	50139752	C	T	50139752	3	4	274	1	0	0	0	0	1	0	0	0	10362	768	27	1	1833	1	NFATC2	20	50139752	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	563331	50139752	12885768	1614	140920											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-													ggaaaccgggagggtaggaaCccccccactctggatcacag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50400982_50400982AC>A	uc002xwh.4	-	3	3085	c.2984_2984GT>T	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					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						GAGGGTAGGAACCCCCCCACT	0.562													-	50400983	C	-	50400983	7	5	274	1	0	1	0	1	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	261231	50400983	12624537	1615	140921											
SALL4	57167	broad.mit.edu	37	chr20	50407649	50407649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtcaggtacagagagtGcataggggatgccattgccg	17	7	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50407649G>A	uc002xwh.3	-	2	1474	c.1373C>T	c.(1372-1374)GCA>GTA	p.A458V	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TACAGAGAGTGCATAGGGGAT	0.532													A	50407649	G	A	50407649	3	1	274	1	0	0	0	0	1	0	0	0	13813	1319	46	2	1800	2	SALL4	20	50407649	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6666	50407649	12617871	1616	140922											
ZFP64	55734	broad.mit.edu	37	chr20	50701394	50701394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccgtcttggcctcgtccCtgtgcaccttgtcgacgtgc	10	16	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50701394C>A	uc002xwk.2	-	9	1989	c.1640G>T	c.(1639-1641)AGG>ATG	p.R547M	ZFP64_uc002xwj.2_Missense_Mutation_p.R328M	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGCCTCGTCCCTGTGCACCTT	0.632													A	50701394	C	A	50701394	3	1	274	1	0	0	0	0	1	0	0	0	17649	681	24	5	301	5	ZFP64	20	50701394	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	293745	50701394	12324126	1617	140923											
ZFP64	55734	broad.mit.edu	37	chr20	50776842	50776842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacgcccgtgtggcaccGcatgtgagttttcagcttgt	11	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:50776842G>A	uc002xwl.2	-	5	932	c.583C>T	c.(583-585)CGG>TGG	p.R195W	ZFP64_uc002xwk.2_Missense_Mutation_p.R195W|ZFP64_uc002xwm.2_Missense_Mutation_p.R193W|ZFP64_uc002xwn.2_Missense_Mutation_p.R141W	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	195	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GTGTGGCACCGCATGTGAGTT	0.537													A	50776842	G	A	50776842	3	1	274	1	0	0	0	0	1	0	0	0	17649	1086	38	1	2661	1	ZFP64	20	50776842	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	75448	50776842	12248678	1618	140924											
PCK1	5105	broad.mit.edu	37	chr20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctggatgaagtttgacGcacaaggtgactcttttaga	11	7	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:56138777G>A	uc002xyn.3	+	6	1118	c.955G>A	c.(955-957)GCA>ACA	p.A319T	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	319					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			skin(1)	1	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)			GAAGTTTGACGCACAAGGTGA	0.542													A	56138777	G	A	56138777	3	1	274	1	0	0	0	0	1	0	0	0	11581	1087	38	1	973	1	PCK1	20	56138777	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5361935	56138777	6886743	1619	140925											
ZBP1	81030	broad.mit.edu	37	chr20	56190060	56190060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcattcccagtgcttgggCgatgaccagggccctctggg	13	14	2	1	rs141977359		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:56190060C>T	uc002xyo.2	-	4	666	c.385G>A	c.(385-387)GCC>ACC	p.A129T	ZBP1_uc010gjm.2_Missense_Mutation_p.A129T|ZBP1_uc002xyp.2_Missense_Mutation_p.A54T|ZBP1_uc010zzn.1_Missense_Mutation_p.A129T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	129	DRADA 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	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)			AGTGCTTGGGCGATGACCAGG	0.418													T	56190060	C	T	56190060	3	4	274	1	0	0	0	0	1	0	0	0	17518	768	27	1	1001	1	ZBP1	20	56190060	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	51283	56190060	6835460	1620	140926											
TUBB1	81027	broad.mit.edu	37	chr20	57599554	57599554	+	Frame_Shift_Del	DEL	C	C	-													tggctgtctgcgacatcccgCcccgggggctgagcatggcc					rs148079612	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:57599553_57599553GC>G	uc002yak.3	+	3	1340	c.1071_1071GC>G	c.(1069-1071)ccgfs	p.P357fs		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	357					'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)	GCGACATCCCGCCCCGGGGGC	0.552													-	57599554	C	-	57599554	7	5	274	1	0	1	0	1	0	0	0	0	16750	739	26	0	1086	0	TUBB1	20	57599554	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1409494	57599554	5425966	1621	140927											
ZNF831	128611	broad.mit.edu	37	chr20	57766431	57766431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacggtgaacatcgtgggCactctgcctgtcctgtcgcc	12	14	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:57766431C>T	uc002yan.2	+	1	357	c.357C>T	c.(355-357)GGC>GGT	p.G119G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	119						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACATCGTGGGCACTCTGCCTG	0.687													T	57766431	C	T	57766431	2	4	274	1	0	0	0	0	0	0	0	1	18182	697	25	2		2	ZNF831	20	57766431	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	166877	57766431	5259089	1622	140928											
ZNF831	128611	broad.mit.edu	37	chr20	57767406	57767406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcatcgacctgcccacGccctacacctacaaggactc	8	18	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:57767406G>A	uc002yan.2	+	1	1332	c.1332G>A	c.(1330-1332)ACG>ACA	p.T444T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	444						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACCTGCCCACGCCCTACACCT	0.682													A	57767406	G	A	57767406	2	1	274	1	0	0	0	0	0	0	0	1	18182	1074	38	1		1	ZNF831	20	57767406	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	975	57767406	5258114	1623	140929											
CDH4	1002	broad.mit.edu	37	chr20	60511884	60511884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcggctccaccgcaggCtccgtcagctccctgaactc	12	17	1	1	rs145794407	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:60511884C>T	uc002ybn.1	+	16	2648	c.2634C>T	c.(2632-2634)GGC>GGT	p.G878G	CDH4_uc002ybp.1_Silent_p.G804G|uc002ybr.1_5'Flank	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	878	Ser-rich.|Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCACCGCAGGCTCCGTCAGCT	0.627													T	60511884	C	T	60511884	2	4	274	1	0	0	0	0	0	0	0	1	3112	784	28	2		2	CDH4	20	60511884	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2744478	60511884	2513636	1624	140930											
NTSR1	4923	broad.mit.edu	37	chr20	61340658	61340658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggcgctgctggccccGggcttcggcaacgcttcggg	18	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:61340658G>A	uc002ydf.2	+	1	470	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	33	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TGCTGGCCCCGGGCTTCGGCA	0.726													A	61340658	G	A	61340658	2	1	274	1	0	0	0	0	0	0	0	1	10710	1103	39	1		1	NTSR1	20	61340658	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	828774	61340658	1684862	1625	140931											
COL9A3	1299	broad.mit.edu	37	chr20	61467861	61467861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagcagcgcatcagggAgctgtgtggggggatgatca	18	8	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:61467861A>G	uc002ydm.2	+	29	1583	c.1580A>G	c.(1579-1581)GAG>GGG	p.E527G	COL9A3_uc002ydn.2_Missense_Mutation_p.E21G	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	527	Nonhelical region 3 (NC3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CGCATCAGGGAGCTGTGTGGG	0.672													G	61467861	A	G	61467861	3	3	274	1	0	0	0	0	1	0	0	0	3709	304	11	3	1694	3	COL9A3	20	61467861	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	127203	61467861	1557659	1626	140932											
EEF1A2	1917	broad.mit.edu	37	chr20	62127345	62127345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcacgctccgccttcAgcttgtccagcacccaggca	9	19	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:62127345A>G	uc002yfd.1	-	2	289	c.188T>C	c.(187-189)CTG>CCG	p.L63P	EEF1A2_uc002yfe.1_Missense_Mutation_p.L63P|EEF1A2_uc010gkg.1_Missense_Mutation_p.L63P	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	63						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCCGCCTTCAGCTTGTCCAG	0.632											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	62127345	A	G	62127345	3	3	274	1	0	0	0	0	1	0	0	0	4924	188	7	3	1227	3	EEF1A2	20	62127345	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	659484	62127345	898175	1627	140933											
ZGPAT	84619	broad.mit.edu	37	chr20	62340125	62340125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagcagcttgttggccGcgctggacgaagagcgcccg	17	11	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:62340125G>A	uc002ygk.2	+	2	371	c.193G>A	c.(193-195)GCG>ACG	p.A65T	ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.A65T|ZGPAT_uc002ygj.2_Missense_Mutation_p.A65T|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.A65T|ZGPAT_uc002ygm.2_Missense_Mutation_p.A65T|ZGPAT_uc002ygn.3_RNA	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	65					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				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTTGTTGGCCGCGCTGGACGA	0.672													A	62340125	G	A	62340125	3	1	274	1	0	0	0	0	1	0	0	0	17671	1087	38	1	195	1	ZGPAT	20	62340125	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	212780	62340125	685395	1628	140934											
PRPF6	24148	broad.mit.edu	37	chr20	62664278	62664278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtgtccaaggacatcGccaactggcagaagaagatc	12	12	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr20:62664278G>A	uc002yho.2	+	21	2926	c.2758G>A	c.(2758-2760)GCC>ACC	p.A920T	PRPF6_uc002yhp.2_Missense_Mutation_p.A880T|NCRNA00176_uc002yhq.2_5'Flank|NCRNA00176_uc011abq.1_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	920					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			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CAAGGACATCGCCAACTGGCA	0.637													A	62664278	G	A	62664278	3	1	274	1	0	0	0	0	1	0	0	0	12574	1087	38	1	2840	1	PRPF6	20	62664278	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	324153	62664278	361242	1629	140935											
NRIP1	8204	broad.mit.edu	37	chr21	16340025	16340025	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaagaatcatgactgagGgcatatccttgctccttgag	9	8	1	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:16340025G>T	uc002yjx.2	-	4	1087	c.489C>A	c.(487-489)GCC>GCA	p.A163A		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	163	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				0				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)		CATGACTGAGGGCATATCCTT	0.418													T	16340025	G	T	16340025	2	4	274	1	0	0	0	0	0	0	0	1	10652	1219	43	5		5	NRIP1	21	16340025	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08		16340025	31789870	1630	140936											
USP25	29761	broad.mit.edu	37	chr21	17199417	17199417	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagtcccggatacctccaGatttgcccatgcatccggca	8	16	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:17199417G>T	uc002yjy.1	+	14	1805	c.1588G>T	c.(1588-1590)GAT>TAT	p.D530Y	USP25_uc011aby.1_Missense_Mutation_p.D530Y|USP25_uc002yjz.1_Missense_Mutation_p.D530Y|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	530					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				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)		GATACCTCCAGATTTGCCCAT	0.458													T	17199417	G	T	17199417	3	4	274	1	0	0	0	0	1	0	0	0	17053	942	33	5	1642	5	USP25	21	17199417	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	859392	17199417	30930478	1631	140937											
APP	351	broad.mit.edu	37	chr21	27394342	27394342	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcctcctctgctacttCtactactttgtcttcactgt	3	14	5	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:27394342C>T	uc002ylz.2	-	6	879	c.679G>A	c.(679-681)GAA>AAA	p.E227K	APP_uc010glk.2_Missense_Mutation_p.E222K|APP_uc002yma.2_Missense_Mutation_p.E227K|APP_uc011ach.1_Missense_Mutation_p.E171K|APP_uc002ymb.2_Missense_Mutation_p.E227K|APP_uc010glj.2_Missense_Mutation_p.E171K|APP_uc011aci.1_Missense_Mutation_p.E192K|APP_uc011acj.1_Missense_Mutation_p.E227K	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	227	Extracellular (Potential).				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|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				tctgctacttctactactttg	0.139													T	27394342	C	T	27394342	3	4	274	1	0	0	0	0	1	0	0	0	815	922	32	4	1685	4	APP	21	27394342	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	10194925	27394342	20735553	1632	140938											
CLDN17	26285	broad.mit.edu	37	chr21	31538754	31538754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatagaacttgcattgcaacCggaccctggcttgtcggatg	11	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:31538754C>T	uc011acv.1	-	1	182	c.182G>A	c.(181-183)CGG>CAG	p.R61Q		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	61	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GCATTGCAACCGGACCCTGGC	0.547													T	31538754	C	T	31538754	3	4	274	1	0	0	0	0	1	0	0	0	3478	652	23	1	496	1	CLDN17	21	31538754	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4144412	31538754	16591141	1633	140939											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007684	32007684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggccatggctatggaggCctgggctgtggctatggccg	17	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:32007684C>T	uc011adg.1	+	1	102	c.102C>T	c.(100-102)GGC>GGT	p.G34G		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	34						intermediate filament				central_nervous_system(1)	1						GCTATGGAGGCCTGGGCTGTG	0.552													T	32007684	C	T	32007684	2	4	274	1	0	0	0	0	0	0	0	1	8537	726	26	2		2	KRTAP20-2	21	32007684	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	468930	32007684	16122211	1634	140940											
C21orf59	56683	broad.mit.edu	37	chr21	33982177	33982177	+	Frame_Shift_Del	DEL	T	T	-													tccttcgtccaatatcatccTttttaaacactgcacctccg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:33982176_33982176CT>C	uc002ypy.2	-	1	644	c.279_279AG>G	c.(277-279)aagfs	p.K93fs	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypz.2_Frame_Shift_Del_p.K93fs|C21orf59_uc002yqc.3_Frame_Shift_Del_p.K93fs|C21orf59_uc010glx.3_Frame_Shift_Del_p.R17fs|C21orf59_uc002yqb.4_Frame_Shift_Del_p.K93fs|C21orf59_uc011adr.2_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	93						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CAATATCATCCTTTTTAAACA	0.393													-	33982177	T	-	33982177	7	5	274	1	0	1	0	1	0	0	0	0	2130	1609	56	0	618	0	C21orf59	21	33982177	Frame_Shift_Del	DEL	T	TCGA-HU-A4GU-01A-11D-A25D-08	1974493	33982177	14147718	1635	140941											
ITSN1	6453	broad.mit.edu	37	chr21	35183448	35183448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccaaactggccttgcGtgagacccccgcccctttgg	10	18	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:35183448G>A	uc002yta.1	+	21	2757	c.2489G>A	c.(2488-2490)CGT>CAT	p.R830H	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.R825H|ITSN1_uc010gmg.2_Missense_Mutation_p.R788H|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.R830H|ITSN1_uc010gmi.2_Missense_Mutation_p.R793H|ITSN1_uc010gmj.2_Missense_Mutation_p.R709H|ITSN1_uc002ysy.2_Missense_Mutation_p.R825H|ITSN1_uc002ysx.2_Missense_Mutation_p.R788H|ITSN1_uc002ytb.1_Missense_Mutation_p.R825H|ITSN1_uc002ytc.1_Missense_Mutation_p.R825H|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.R793H|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.R825H|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.R764H|ITSN1_uc002ytf.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	830					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			ovary(3)|skin(1)	4						CTGGCCTTGCGTGAGACCCCC	0.557													A	35183448	G	A	35183448	3	1	274	1	0	0	0	0	1	0	0	0	7926	1145	40	1	2567	1	ITSN1	21	35183448	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1201271	35183448	12946447	1636	140942											
RUNX1	861	broad.mit.edu	37	chr21	36171665	36171665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtccaggtgaaatgggCgttgctgggtgcacagaagg	17	8	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:36171665C>T	uc002yuh.2	-	5	2397	c.819G>A	c.(817-819)ACG>ACA	p.T273T	RUNX1_uc002yui.2_Silent_p.T209T|RUNX1_uc010gmu.2_Silent_p.T300T|RUNX1_uc010gmv.2_Silent_p.T300T|RUNX1_uc002yuj.3_Silent_p.T168T|RUNX1_uc002yuk.3_Silent_p.T300T|RUNX1_uc002yul.1_Silent_p.T65T|RUNX1_uc002yum.1_Silent_p.T104T	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	273	Pro/Ser/Thr-rich.			Missing: No DNA-binding.|T->A: Reduced phsphorylation; when associated with A-276.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						GTGAAATGGGCGTTGCTGGGT	0.527			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				T	36171665	C	T	36171665	2	4	274	1	0	0	0	0	0	0	0	1	13746	755	27	1		1	RUNX1	21	36171665	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	988217	36171665	11958230	1637	140943											
DOPEY2	9980	broad.mit.edu	37	chr21	37618196	37618196	+	Frame_Shift_Del	DEL	C	C	-													acccaggtccccaacgtgtgCccccactctctgctcctgga							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:37618195_37618195GC>G	uc002yvg.3	+	18	3996	c.3917_3917GC>G	c.(3916-3918)tgcfs	p.C1306fs	DOPEY2_uc011aeb.2_Frame_Shift_Del_p.C1255fs|DOPEY2_uc002yvh.3_Frame_Shift_Del_p.C157fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1306					Golgi to endosome transport|endoplasmic reticulum organization|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						CCCAACGTGTGCCCCCACTCT	0.597													-	37618196	C	-	37618196	7	5	274	1	0	1	0	1	0	0	0	0	4708	747	26	0	3988	0	DOPEY2	21	37618196	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	1446531	37618196	10511699	1638	140944											
TRAPPC10	7109	broad.mit.edu	37	chr21	45504008	45504008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctttgactctaggccaaGgaacctggaacgtatacact	8	10	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:45504008G>T	uc002zea.2	+	15	2413	c.2244G>T	c.(2242-2244)AAG>AAT	p.K748N	TRAPPC10_uc010gpo.2_Missense_Mutation_p.K459N|TRAPPC10_uc011afa.1_Missense_Mutation_p.K167N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	748					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TCTAGGCCAAGGAACCTGGAA	0.557													T	45504008	G	T	45504008	3	4	274	1	0	0	0	0	1	0	0	0	16454	991	35	5	2302	5	TRAPPC10	21	45504008	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	7885812	45504008	2625887	1639	140945											
ADARB1	104	broad.mit.edu	37	chr21	46596496	46596496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcgcagtctgccctgGccgccatttttaacttgcac	11	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:46596496G>A	uc002zgy.2	+	4	1315	c.880G>A	c.(880-882)GCC>ACC	p.A294T	ADARB1_uc002zgr.2_Missense_Mutation_p.A294T|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.A294T|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.A294T|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.A343T	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	294	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		GTCTGCCCTGGCCGCCATTTT	0.557													A	46596496	G	A	46596496	3	1	274	1	0	0	0	0	1	0	0	0	282	1203	42	2	886	2	ADARB1	21	46596496	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1092488	46596496	1533399	1640	140946											
COL18A1	80781	broad.mit.edu	37	chr21	46888631	46888631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctcggtcctcacggggCctggagctggagcctggcgc	16	14	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:46888631C>T	uc011afs.1	+	2	1848	c.1827C>T	c.(1825-1827)GGC>GGT	p.G609G	COL18A1_uc002zhg.2_Silent_p.G194G|COL18A1_uc002zhi.2_Silent_p.G374G	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	609	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			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCTCACGGGGCCTGGAGCTGG	0.652													T	46888631	C	T	46888631	2	4	274	1	0	0	0	0	0	0	0	1	3675	726	26	2		2	COL18A1	21	46888631	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	292135	46888631	1241264	1641	140947											
DIP2A	23181	broad.mit.edu	37	chr21	47985786	47985786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcggcgaacagagctcaCtgatgccagtggaggtgagg	15	10	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr21:47985786C>T	uc002zjo.2	+	36	4508	c.4325C>T	c.(4324-4326)ACT>ATT	p.T1442I	DIP2A_uc011afz.1_Missense_Mutation_p.T1438I|DIP2A_uc002zjs.2_Missense_Mutation_p.T122I|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1442					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		ACAGAGCTCACTGATGCCAGT	0.602													T	47985786	C	T	47985786	3	4	274	1	0	0	0	0	1	0	0	0	4527	565	20	4	4580	4	DIP2A	21	47985786	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1097155	47985786	144109	1642	140948											
CECR6	27439	broad.mit.edu	37	chr22	17601186	17601186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggtagcggccgagggggCgggcagatgcaggggcggcg	24	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:17601186C>T	uc002zmb.2	-	1	1028	c.832G>A	c.(832-834)GCC>ACC	p.A278T	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	278	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCCGAGGGGGCGGGCAGATGC	0.532													T	17601186	C	T	17601186	3	4	274	1	0	0	0	0	1	0	0	0	3208	768	27	1	908	1	CECR6	22	17601186	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		17601186	33703380	1643	140949											
CECR6	27439	broad.mit.edu	37	chr22	17601202	17601202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgggcagatgcaggggCggcgcggcgtggtggtggtg	26	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:17601202C>T	uc002zmb.2	-	1	1012	c.816G>A	c.(814-816)CCG>CCA	p.P272P	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	272	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GATGCAGGGGCGGCGCGGCGT	0.562													T	17601202	C	T	17601202	2	4	274	1	0	0	0	0	0	0	0	1	3208	755	27	1		1	CECR6	22	17601202	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	16	17601202	33703364	1644	140950											
CECR2	27443	broad.mit.edu	37	chr22	17976597	17976597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaccggctggatgcagaCgatgtcttcgatcttctaaa	10	9	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:17976597C>T	uc010gqw.1	+	2	384	c.258C>T	c.(256-258)GAC>GAT	p.D86D	CECR2_uc010gqv.1_Translation_Start_Site|CECR2_uc002zml.2_Translation_Start_Site|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	128					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		TGGATGCAGACGATGTCTTCG	0.512													T	17976597	C	T	17976597	2	4	274	1	0	0	0	0	0	0	0	1	3206	535	19	1		1	CECR2	22	17976597	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	375395	17976597	33327969	1645	140951											
TSSK2	23617	broad.mit.edu	37	chr22	19119916	19119916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgagaacaggatggaggAcaggctggccgagacctcca	15	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:19119916A>G	uc002zow.2	+	1	1596	c.1004A>G	c.(1003-1005)GAC>GGC	p.D335G	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	335					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					AGGATGGAGGACAGGCTGGCC	0.617													G	19119916	A	G	19119916	3	3	274	1	0	0	0	0	1	0	0	0	16666	275	10	3	1006	3	TSSK2	22	19119916	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1143319	19119916	32184650	1646	140952											
GNB1L	54584	broad.mit.edu	37	chr22	19789618	19789618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggagtcaaagtcaaggTccatgacgggctcctcatgg	13	10	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:19789618T>C	uc002zqe.1	-	6	1032	c.638A>G	c.(637-639)GAC>GGC	p.D213G	GNB1L_uc002zqd.1_Missense_Mutation_p.D69G|GNB1L_uc002zqf.1_Missense_Mutation_p.D213G	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	213	WD 4.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					AAAGTCAAGGTCCATGACGGG	0.642													C	19789618	T	C	19789618	3	2	274	1	0	0	0	0	1	0	0	0	6516	1667	58	3	353	3	GNB1L	22	19789618	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	669702	19789618	31514948	1647	140953											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130500	20130500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggatcatgtggccctgcaGcccctgcgctctgagggggg	18	12	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:20130500G>T	uc002zrq.2	+	10	1453	c.1347G>T	c.(1345-1347)CAG>CAT	p.Q449H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.Q449H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.Q255H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	449	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					TGGCCCTGCAGCCCCTGCGCT	0.697													T	20130500	G	T	20130500	3	4	274	1	0	0	0	0	1	0	0	0	17618	962	34	5	1385	5	ZDHHC8	22	20130500	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	340882	20130500	31174066	1648	140954											
AIFM3	150209	broad.mit.edu	37	chr22	21322240	21322240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccactcgccatgggcgGctgcttctccaaacccaaac	9	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:21322240G>A	uc002ztj.2	+	2	226	c.8G>A	c.(7-9)GGC>GAC	p.G3D	AIFM3_uc002ztk.2_Missense_Mutation_p.G3D|AIFM3_uc002ztl.2_Missense_Mutation_p.G3D|AIFM3_uc011ahx.1_Missense_Mutation_p.A28T	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	3					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	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)			GCCATGGGCGGCTGCTTCTCC	0.502													A	21322240	G	A	21322240	3	1	274	1	0	0	0	0	1	0	0	0	428	1203	42	2	10	2	AIFM3	22	21322240	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1191740	21322240	29982326	1649	140955											
THAP7	80764	broad.mit.edu	37	chr22	21354389	21354389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccgcttccagagtaagGcgctgcccacctggtagctg	12	15	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:21354389G>A	uc002ztr.1	-	5	740	c.710C>T	c.(709-711)GCC>GTC	p.A237V	THAP7_uc002zts.1_Missense_Mutation_p.A237V|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	THAP domain containing 7 isoform 2	237					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				0	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)			CCAGAGTAAGGCGCTGCCCAC	0.672													A	21354389	G	A	21354389	3	1	274	1	0	0	0	0	1	0	0	0	15846	1203	42	2	223	2	THAP7	22	21354389	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	32149	21354389	29950177	1650	140956											
HIC2	23119	broad.mit.edu	37	chr22	21800451	21800451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagcggccatgccagcGcccactacatgtaccggcag	14	15	0	0	rs137951777		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:21800451G>A	uc002zur.3	+	3	1497	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T	HIC2_uc002zus.3_Missense_Mutation_p.A423T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	423					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCATGCCAGCGCCCACTACAT	0.642													A	21800451	G	A	21800451	3	1	274	1	0	0	0	0	1	0	0	0	7102	1087	38	1	1273	1	HIC2	22	21800451	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	446062	21800451	29504115	1651	140957											
PPM1F	9647	broad.mit.edu	37	chr22	22285617	22285617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggcgacgtgcagggtcGctcctgcaatgagcgcacac	14	14	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:22285617G>A	uc002zvp.1	-	6	908	c.794C>T	c.(793-795)GCG>GTG	p.A265V	PPM1F_uc011aik.1_Missense_Mutation_p.A161V|PPM1F_uc002zvq.2_Missense_Mutation_p.A265V	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	265					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GTGCAGGGTCGCTCCTGCAAT	0.453													A	22285617	G	A	22285617	3	1	274	1	0	0	0	0	1	0	0	0	12339	1087	38	1	582	1	PPM1F	22	22285617	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	485166	22285617	29018949	1652	140958											
C22orf43	51233	broad.mit.edu	37	chr22	23968220	23968220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaattttaaactcaggCggtcctcagggggacctaaa	11	9	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:23968220C>T	uc002zxf.2	-	2	501	c.224G>A	c.(223-225)CGC>CAC	p.R75H		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	hypothetical protein LOC51233	75										skin(1)	1						TAAACTCAGGCGGTCCTCAGG	0.498													T	23968220	C	T	23968220	3	4	274	1	0	0	0	0	1	0	0	0	2150	768	27	1	509	1	C22orf43	22	23968220	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1682603	23968220	27336346	1653	140959											
SLC2A11	66035	broad.mit.edu	37	chr22	24219298	24219298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctccgaggagctgtggCcatgagctcagccatcttta	13	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24219298C>T	uc002zyn.3	+	5	575	c.476C>T	c.(475-477)GCC>GTC	p.A159V	SLC2A11_uc002zyl.1_Missense_Mutation_p.A166V|SLC2A11_uc002zym.3_Missense_Mutation_p.A166V|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Missense_Mutation_p.A166V|SLC2A11_uc011ajd.1_Missense_Mutation_p.A153V|SLC2A11_uc002zyp.3_Missense_Mutation_p.A162V	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform c	159	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1						GGAGCTGTGGCCATGAGCTCA	0.597													T	24219298	C	T	24219298	3	4	274	1	0	0	0	0	1	0	0	0	14540	739	26	2	574	2	SLC2A11	22	24219298	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	251078	24219298	27085268	1654	140960											
CABIN1	23523	broad.mit.edu	37	chr22	24483489	24483489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagctgaagagtgatggGcccatttggaagcatgccac	13	8	0	4			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24483489G>A	uc002zzi.1	+	23	3475	c.3348G>A	c.(3346-3348)GGG>GGA	p.G1116G	CABIN1_uc002zzj.1_Silent_p.G1066G|CABIN1_uc002zzl.1_Silent_p.G1116G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1116	TPR 6.				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGAGTGATGGGCCCATTTGGA	0.557													A	24483489	G	A	24483489	2	1	274	1	0	0	0	0	0	0	0	1	2528	1190	42	2		2	CABIN1	22	24483489	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	264191	24483489	26821077	1655	140961											
CABIN1	23523	broad.mit.edu	37	chr22	24573493	24573493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaactgaggcctgagcCgagaagggatggggaggctc	20	7	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24573493C>T	uc002zzi.1	+	36	6354	c.6227C>T	c.(6226-6228)CCG>CTG	p.P2076L	CABIN1_uc002zzj.1_Missense_Mutation_p.P1997L|CABIN1_uc002zzl.1_Missense_Mutation_p.P2076L|CABIN1_uc010gul.1_Missense_Mutation_p.P14L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2076					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AGGCCTGAGCCGAGAAGGGAT	0.632													T	24573493	C	T	24573493	3	4	274	1	0	0	0	0	1	0	0	0	2528	652	23	1	6365	1	CABIN1	22	24573493	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	90004	24573493	26731073	1656	140962											
SUSD2	56241	broad.mit.edu	37	chr22	24580178	24580178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggcaatactacggcaccGccaacacctcaggcaacctc	8	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24580178G>A	uc002zzn.1	+	4	558	c.514G>A	c.(514-516)GCC>ACC	p.A172T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	172	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTACGGCACCGCCAACACCTC	0.592													A	24580178	G	A	24580178	3	1	274	1	0	0	0	0	1	0	0	0	15405	1087	38	1	528	1	SUSD2	22	24580178	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	6685	24580178	26724388	1657	140963											
GGT5	2687	broad.mit.edu	37	chr22	24628050	24628050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctccaccagcatctgGcccagcctccccgtgtagaa	8	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:24628050G>A	uc002zzo.3	-	5	1140	c.723C>T	c.(721-723)GGC>GGT	p.G241G	GGT5_uc002zzp.3_Silent_p.G241G|GGT5_uc002zzr.3_Silent_p.G209G|GGT5_uc002zzq.3_Silent_p.G209G|GGT5_uc011ajm.1_Silent_p.G164G|GGT5_uc011ajn.1_Intron	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	241	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						CCAGCATCTGGCCCAGCCTCC	0.642													A	24628050	G	A	24628050	2	1	274	1	0	0	0	0	0	0	0	1	6362	1190	42	2		2	GGT5	22	24628050	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	47872	24628050	26676516	1658	140964											
SGSM1	129049	broad.mit.edu	37	chr22	25297812	25297812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctatagccagagctgctgGatctgtacacggtgaacctg	12	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:25297812G>A	uc003abg.2	+	21	2945	c.2788G>A	c.(2788-2790)GAT>AAT	p.D930N	SGSM1_uc003abh.2_Missense_Mutation_p.D869N|SGSM1_uc010guu.1_Missense_Mutation_p.D875N|SGSM1_uc003abj.2_Missense_Mutation_p.D814N|SGSM1_uc003abi.1_Missense_Mutation_p.D850N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	930	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						AGAGCTGCTGGATCTGTACAC	0.542													A	25297812	G	A	25297812	3	1	274	1	0	0	0	0	1	0	0	0	14222	1174	41	4	2870	4	SGSM1	22	25297812	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	669762	25297812	26006754	1659	140965											
MYO18B	84700	broad.mit.edu	37	chr22	26423175	26423175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccagaaccgccagtttgCccacctgatggaggaacctc	9	14	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:26423175C>A	uc003abz.1	+	43	7485	c.7235C>A	c.(7234-7236)GCC>GAC	p.A2412D	MYO18B_uc003aca.1_Missense_Mutation_p.A2293D|MYO18B_uc010guy.1_Missense_Mutation_p.A2294D|MYO18B_uc010guz.1_Missense_Mutation_p.A2292D|MYO18B_uc011aka.1_Missense_Mutation_p.A1566D|MYO18B_uc011akb.1_Missense_Mutation_p.A1925D|MYO18B_uc010gva.1_Missense_Mutation_p.A395D|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2412						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CGCCAGTTTGCCCACCTGATG	0.572													A	26423175	C	A	26423175	3	1	274	1	0	0	0	0	1	0	0	0	10066	739	26	5	7401	5	MYO18B	22	26423175	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1125363	26423175	24881391	1660	140966											
CRYBB1	1414	broad.mit.edu	37	chr22	26995521	26995521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgcttgtcacgcaggCgacgcagggactgcatctgt	13	13	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:26995521C>T	uc003acy.1	-	6	762	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	231	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			ovary(1)	1						GTCACGCAGGCGACGCAGGGA	0.627													T	26995521	C	T	26995521	3	4	274	1	0	0	0	0	1	0	0	0	3910	768	27	1	70	1	CRYBB1	22	26995521	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	572346	26995521	24309045	1661	140967											
RHBDD3	25807	broad.mit.edu	37	chr22	29656789	29656789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggtcctgcacaagacGccctcctgcagcacctgcag	10	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:29656789G>A	uc003aeq.1	-	5	969	c.597C>T	c.(595-597)GGC>GGT	p.G199G	RHBDD3_uc003aer.1_RNA	NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	199						integral to membrane	serine-type endopeptidase activity			ovary(1)	1						TGCACAAGACGCCCTCCTGCA	0.692													A	29656789	G	A	29656789	2	1	274	1	0	0	0	0	0	0	0	1	13318	1074	38	1		1	RHBDD3	22	29656789	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2661268	29656789	21647777	1662	140968											
AP1B1	162	broad.mit.edu	37	chr22	29737717	29737717	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcgccagtagatgtaGccacggtcccgcaggtctgg	15	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:29737717G>T	uc003afj.2	-	13	1753	c.1569C>A	c.(1567-1569)GGC>GGA	p.G523G	AP1B1_uc003afi.2_Silent_p.G523G|AP1B1_uc003afk.2_Silent_p.G523G|AP1B1_uc003afl.2_Silent_p.G523G|AP1B1_uc011ako.1_Silent_p.G76G	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	523					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			ovary(1)|skin(1)	2						AGTAGATGTAGCCACGGTCCC	0.597													T	29737717	G	T	29737717	2	4	274	1	0	0	0	0	0	0	0	1	731	958	34	5		5	AP1B1	22	29737717	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	80928	29737717	21566849	1663	140969											
MTMR3	8897	broad.mit.edu	37	chr22	30415613	30415613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgagcagcctggctggCcctggagaggatcccctttc	14	13	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:30415613C>T	uc003agv.3	+	17	2293	c.1965C>T	c.(1963-1965)GGC>GGT	p.G655G	MTMR3_uc003agu.3_Silent_p.G655G|MTMR3_uc003agw.3_Silent_p.G655G	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	655					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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GCCTGGCTGGCCCTGGAGAGG	0.662													T	30415613	C	T	30415613	2	4	274	1	0	0	0	0	0	0	0	1	9945	726	26	2		2	MTMR3	22	30415613	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	677896	30415613	20888953	1664	140970											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688804	30688804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaatgaggtgttcgcGctcaatctggcgctctgtca	12	11	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:30688804G>A	uc011akt.1	-	11	1111	c.1087C>T	c.(1087-1089)CGC>TGC	p.R363C	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Missense_Mutation_p.R221C|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R275C|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R370C|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R363C	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						AGGTGTTCGCGCTCAATCTGG	0.637													A	30688804	G	A	30688804	3	1	274	1	0	0	0	0	1	0	0	0	15595	1087	38	1	443	1	TBC1D10A	22	30688804	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	273191	30688804	20615762	1665	140971											
SMTN	6525	broad.mit.edu	37	chr22	31487683	31487683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacactggggctgcgggcGcccccgaccctactcagcac	12	18	1	1	rs141823576		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:31487683G>A	uc003ajl.1	+	11	1700	c.1482G>A	c.(1480-1482)GCG>GCA	p.A494A	SMTN_uc003ajk.1_Silent_p.A494A|SMTN_uc003ajm.1_Silent_p.A494A|SMTN_uc011ale.1_Silent_p.A548A|SMTN_uc011alf.1_Silent_p.A550A|SMTN_uc003ajn.1_Silent_p.A486A|SMTN_uc011alg.1_Intron|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	494					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						GGCTGCGGGCGCCCCCGACCC	0.622													A	31487683	G	A	31487683	2	1	274	1	0	0	0	0	0	0	0	1	14814	1074	38	1		1	SMTN	22	31487683	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	798879	31487683	19816883	1666	140972											
HMGXB4	10042	broad.mit.edu	37	chr22	35661161	35661161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcagacgcacattcAtctcctggccctgaaggctg	8	15	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:35661161A>G	uc003anl.2	+	5	954	c.780A>G	c.(778-780)TCA>TCG	p.S260S	HMGXB4_uc011amh.1_Silent_p.S151S|HMGXB4_uc003ank.2_Silent_p.S151S	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	260					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						ACGCACATTCATCTCCTGGCC	0.517													G	35661161	A	G	35661161	2	3	274	1	0	0	0	0	0	0	0	1	7239	204	8	3		3	HMGXB4	22	35661161	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4173478	35661161	15643405	1667	140973											
MPST	4357	broad.mit.edu	37	chr22	37425350	37425350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagccctgaggagatccGccatctgttccaggagaaga	13	10	1	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:37425350G>A	uc003aqj.2	+	4	1101	c.689G>A	c.(688-690)CGC>CAC	p.R230H	MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.2_Missense_Mutation_p.R230H|MPST_uc011amu.1_Missense_Mutation_p.R250H|MPST_uc003aql.2_Missense_Mutation_p.R230H|MPST_uc003aqn.2_3'UTR|MPST_uc003aqo.2_3'UTR	NM_001130517	NP_001123989	P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase isoform 2	230	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity				0						GAGGAGATCCGCCATCTGTTC	0.602													A	37425350	G	A	37425350	3	1	274	1	0	0	0	0	1	0	0	0	9744	1087	38	1	759	1	MPST	22	37425350	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1764189	37425350	13879216	1668	140974											
TMPRSS6	164656	broad.mit.edu	37	chr22	37466617	37466617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgaacctggaggctgGcctgccatggccactcaccc	11	18	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:37466617G>T	uc003aqs.1	-	15	1889	c.1775C>A	c.(1774-1776)GCC>GAC	p.A592D	TMPRSS6_uc003aqt.1_Missense_Mutation_p.A583D	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	592	Peptidase S1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTGGAGGCTGGCCTGCCATGG	0.582													T	37466617	G	T	37466617	3	4	274	1	0	0	0	0	1	0	0	0	16248	1203	42	5	676	5	TMPRSS6	22	37466617	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	41267	37466617	13837949	1669	140975											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962639	37962640	+	Frame_Shift_Ins	INS	-	-	C													ggtgcggagggtgggggcgcINSccccccggaggatggcatct					rs150186371		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:37962638_37962639G>GC	uc003asz.4	+	1	685_686	c.282_283G>GC	c.(280-285)gcgcccfs	p.A94fs		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	94					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGGTGGGGGCGCCCCCCCGGAG	0.693													C	37962640	-	C	37962639	7	5	274	1	0	1	1	0	0	0	0	0	3075	739	26	0	285	0	CDC42EP1	22	37962639	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	496022	37962639	13341927	1670	140976											
SOX10	6663	broad.mit.edu	37	chr22	38369822	38369822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcccctggggccccgCggtctctgtcttcacctggg	16	15	3	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:38369822C>T	uc003aun.1	-	4	1359	c.1081G>A	c.(1081-1083)GCG>ACG	p.A361T	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.A361T	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	361						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					TGGGGCCCCGCGGTCTCTGTC	0.657													T	38369822	C	T	38369822	3	4	274	1	0	0	0	0	1	0	0	0	14941	768	27	1	323	1	SOX10	22	38369822	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	407183	38369822	12934744	1671	140977											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38493188	38493188	+	Splice_Site	DEL	G	G	-													cagccggttcacactctcctGggggggaacgggagttctgg					rs147219790	by1000genomes	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:38493187_38493187TG>T	uc003auw.3	-	7	610	c.466_splice	c.e7-1	p.E156_splice		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	156	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CACACTCTCCTGGGGGGGAAC	0.637													-	38493188	G	-	38493188	8	5	274	1	0	1	0	1	0	0	1	0	1303	1363	47	0		0	BAIAP2L2	22	38493188	Splice_Site	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	123366	38493188	12811378	1672	140978											
PLA2G6	8398	broad.mit.edu	37	chr22	38528935	38528935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacagtcgaagcggttgCgcatcaccgccacgtgcagg	14	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:38528935C>T	uc003auy.1	-	7	1116	c.980G>A	c.(979-981)CGC>CAC	p.R327H	PLA2G6_uc003auz.1_Missense_Mutation_p.R327H|PLA2G6_uc003ava.1_Missense_Mutation_p.R327H|PLA2G6_uc003avb.2_Missense_Mutation_p.R327H|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.R292H	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	327	ANK 6.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GAAGCGGTTGCGCATCACCGC	0.682													T	38528935	C	T	38528935	3	4	274	1	0	0	0	0	1	0	0	0	12008	768	27	1	1484	1	PLA2G6	22	38528935	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	35747	38528935	12775631	1673	140979											
SUN2	25777	broad.mit.edu	37	chr22	39134698	39134698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggatgcgggcagagaggCggaccacggcgaagccttgt	19	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:39134698C>T	uc003awh.1	-	17	2125	c.1841G>A	c.(1840-1842)CGC>CAC	p.R614H	SUN2_uc011anz.1_Missense_Mutation_p.R649H|SUN2_uc011aoa.1_Missense_Mutation_p.R603H|SUN2_uc003awi.1_Missense_Mutation_p.R614H|SUN2_uc010gxq.1_Missense_Mutation_p.R635H|SUN2_uc010gxr.1_Missense_Mutation_p.R614H|SUN2_uc010gxs.1_Missense_Mutation_p.R614H	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	614	SUN.|Perinuclear space.				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			large_intestine(1)|skin(1)	2						GGCAGAGAGGCGGACCACGGC	0.632													T	39134698	C	T	39134698	3	4	274	1	0	0	0	0	1	0	0	0	15389	768	27	1	324	1	SUN2	22	39134698	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	605763	39134698	12169868	1674	140980											
SMCR7L	54471	broad.mit.edu	37	chr22	39908309	39908309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagaagtcacgactccGcatgtccctgcaggagaaac	10	12	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:39908309G>A	uc003axx.2	+	5	893	c.395G>A	c.(394-396)CGC>CAC	p.R132H	SMCR7L_uc003axw.2_Missense_Mutation_p.R132H|SMCR7L_uc010gxz.1_Intron|SMCR7L_uc003axy.2_Intron	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	132						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					TCACGACTCCGCATGTCCCTG	0.592													A	39908309	G	A	39908309	3	1	274	1	0	0	0	0	1	0	0	0	14791	1087	38	1	405	1	SMCR7L	22	39908309	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	773611	39908309	11396257	1675	140981											
FAM83F	113828	broad.mit.edu	37	chr22	40417800	40417800	+	Frame_Shift_Del	DEL	G	G	-													cggcatgggagaagcggcccGgggggaggccgcccccgcca							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:40417799_40417799CG>C	uc003ayk.1	+	3	1379	c.1285_1285CG>C	c.(1285-1287)cggfs	p.R429fs		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	429										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGAAGCGGCCCGGGGGGAGGC	0.667													-	40417800	G	-	40417800	7	5	274	1	0	1	0	1	0	0	0	0	5638	1116	39	0	1300	0	FAM83F	22	40417800	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	509491	40417800	10886766	1676	140982											
SGSM3	27352	broad.mit.edu	37	chr22	40803271	40803271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactggtggctgacctccGggaagccatcctgcgcgtgg	16	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:40803271G>T	uc003ayu.1	+	12	1516	c.1307G>T	c.(1306-1308)CGG>CTG	p.R436L	SGSM3_uc011aos.1_Missense_Mutation_p.R369L|SGSM3_uc011aot.1_Missense_Mutation_p.R373L|SGSM3_uc010gyd.1_Missense_Mutation_p.R479L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	436	Potential.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						GCTGACCTCCGGGAAGCCATC	0.622													T	40803271	G	T	40803271	3	4	274	1	0	0	0	0	1	0	0	0	14224	1116	39	5	1349	5	SGSM3	22	40803271	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	385471	40803271	10501295	1677	140983											
RANGAP1	5905	broad.mit.edu	37	chr22	41652736	41652736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagcttgggcaggccgccGcggatggcatctgcaatggc	15	11	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:41652736G>A	uc003azs.2	-	7	2337	c.867C>T	c.(865-867)CGC>CGT	p.R289R	RANGAP1_uc003azt.2_Silent_p.R289R|RANGAP1_uc003azu.2_Silent_p.R289R|RANGAP1_uc011aoz.1_Silent_p.R234R	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	289					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GCAGGCCGCCGCGGATGGCAT	0.517													A	41652736	G	A	41652736	2	1	274	1	0	0	0	0	0	0	0	1	13033	1074	38	1		1	RANGAP1	22	41652736	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	849465	41652736	9651830	1678	140984											
PMM1	5372	broad.mit.edu	37	chr22	41980050	41980050	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatgccattccggaactcGatgaaggttccactggtggt	12	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:41980050G>A	uc003bal.2	-	5	449	c.387C>T	c.(385-387)ATC>ATT	p.I129I		NM_002676	NP_002667	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			ovary(1)	1						TCCGGAACTCGATGAAGGTTC	0.582													A	41980050	G	A	41980050	2	1	274	1	0	0	0	0	0	0	0	1	12136	1048	37	1		1	PMM1	22	41980050	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	327314	41980050	9324516	1679	140985											
ARFGAP3	26286	broad.mit.edu	37	chr22	43231437	43231437	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctatagagctgagcagcAcgactgttgtacttggcatt	10	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:43231437A>G	uc003bdd.2	-	4	544	c.324T>C	c.(322-324)CGT>CGC	p.R108R	ARFGAP3_uc010gzf.2_Intron|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	108	Arf-GAP.				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(1)	1						GCTGAGCAGCACGACTGTTGT	0.433													G	43231437	A	G	43231437	2	3	274	1	0	0	0	0	0	0	0	1	851	146	6	3		3	ARFGAP3	22	43231437	Silent	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1251387	43231437	8073129	1680	140986											
SAMM50	25813	broad.mit.edu	37	chr22	44368179	44368179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaattgaggagattaaCgggcagttataacaccatgg	11	6	0	3	rs150984629	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:44368179C>T	uc003bej.2	+	5	583	c.386C>T	c.(385-387)ACG>ATG	p.T129M	SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_5'Flank	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	129					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGAGATTAACGGGCAGTTAT	0.363													T	44368179	C	T	44368179	3	4	274	1	0	0	0	0	1	0	0	0	13829	536	19	1	404	1	SAMM50	22	44368179	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1136742	44368179	6936387	1681	140987											
FBLN1	2192	broad.mit.edu	37	chr22	45946477	45946477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagtgccctgagaactAccgccgctccgcagccacgt	10	17	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:45946477A>G	uc003bgj.1	+	14	1826	c.1679A>G	c.(1678-1680)TAC>TGC	p.Y560C	FBLN1_uc003bgg.1_Missense_Mutation_p.Y560C|FBLN1_uc003bgh.2_Missense_Mutation_p.Y560C|FBLN1_uc010gzz.2_Missense_Mutation_p.Y598C|FBLN1_uc003bgi.1_Missense_Mutation_p.Y560C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	560	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTGAGAACTACCGCCGCTCC	0.602													G	45946477	A	G	45946477	3	3	274	1	0	0	0	0	1	0	0	0	5698	391	14	3	1733	3	FBLN1	22	45946477	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1578298	45946477	5358089	1682	140988											
FBLN1	2192	broad.mit.edu	37	chr22	45970457	45970457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccaacgatgtcacatgCgtgttcgaccccgtgcacac	9	17	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:45970457C>T	uc003bgj.1	+	15	1911	c.1764C>T	c.(1762-1764)TGC>TGT	p.C588C		NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	588					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGTCACATGCGTGTTCGACC	0.637													T	45970457	C	T	45970457	2	4	274	1	0	0	0	0	0	0	0	1	5698	776	27	1		1	FBLN1	22	45970457	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	23980	45970457	5334109	1683	140989											
PKDREJ	10343	broad.mit.edu	37	chr22	46654556	46654556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagatccttttgggaagggTgctgttcggaatggacatcc	15	7	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:46654556T>C	uc003bhh.2	-	1	4664	c.4664A>G	c.(4663-4665)CAC>CGC	p.H1555R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1555	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGGGAAGGGTGCTGTTCGGA	0.458													C	46654556	T	C	46654556	3	2	274	1	0	0	0	0	1	0	0	0	11970	1696	59	3	2101	3	PKDREJ	22	46654556	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	684099	46654556	4650010	1684	140990											
CELSR1	9620	broad.mit.edu	37	chr22	46773146	46773146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacaatcttcagaggcaGgacctccccgttctatgggc	12	12	3	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:46773146G>A	uc003bhw.1	-	24	7396	c.7396C>T	c.(7396-7398)CTG>TTG	p.L2466L	CELSR1_uc011arc.1_Silent_p.L787L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2466	Extracellular (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		TTCAGAGGCAGGACCTCCCCG	0.557													A	46773146	G	A	46773146	2	1	274	1	0	0	0	0	0	0	0	1	3221	991	35	4		4	CELSR1	22	46773146	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	118590	46773146	4531420	1685	140991											
CELSR1	9620	broad.mit.edu	37	chr22	46805670	46805670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgctcacagttcttccCgccgaatcggagtggacact	9	14	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:46805670C>T	uc003bhw.1	-	8	5041	c.5041G>A	c.(5041-5043)GGG>AGG	p.G1681R	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1681	Extracellular (Potential).|EGF-like 4; 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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		CAGTTCTTCCCGCCGAATCGG	0.612													T	46805670	C	T	46805670	3	4	274	1	0	0	0	0	1	0	0	0	3221	652	23	1	4115	1	CELSR1	22	46805670	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	32524	46805670	4498896	1686	140992											
FAM19A5	25817	broad.mit.edu	37	chr22	49103583	49103583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccgtgtctggagggggAaggctgcgacttgttaatca	15	8	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:49103583A>G	uc003bim.3	+	3	434	c.317A>G	c.(316-318)GAA>GGA	p.E106G	FAM19A5_uc003bio.3_Missense_Mutation_p.E99G	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine	106						extracellular region|integral to membrane				large_intestine(1)	1		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)		CTGGAGGGGGAAGGCTGCGAC	0.567													G	49103583	A	G	49103583	3	3	274	1	0	0	0	0	1	0	0	0	5535	246	9	3	422	3	FAM19A5	22	49103583	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	2297913	49103583	2200983	1687	140993											
BRD1	23774	broad.mit.edu	37	chr22	50192336	50192336	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacctgctccaccttcaccTgggggggcccagcagagcct	12	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50192336T>G	uc003biv.2	-	4	2144	c.1657_splice	c.e4-1	p.V553_splice	BRD1_uc011arf.1_Splice_Site_p.V148_splice|BRD1_uc011arg.1_Splice_Site_p.V607_splice|BRD1_uc011arh.1_Splice_Site_p.V553_splice|BRD1_uc003biu.3_Splice_Site_p.V553_splice	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1						histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCTTCACCTGGGGGGGCCC	0.687													G	50192336	T	G	50192336	5	3	274	1	0	0	0	0	0	0	1	0	1501	1594	55	5	1557	5	BRD1	22	50192336	Splice_Site	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1088753	50192336	1112230	1688	140994											
PANX2	56666	broad.mit.edu	37	chr22	50615855	50615855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgatcctgctgctgagCgccgtgcccatctcctacct	10	16	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50615855C>T	uc003bjn.3	+	2	714	c.714C>T	c.(712-714)AGC>AGT	p.S238S	PANX2_uc003bjp.3_Silent_p.S104S|PANX2_uc003bjo.3_Silent_p.S238S	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	238	Helical; (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGCTGCTGAGCGCCGTGCCCA	0.677													T	50615855	C	T	50615855	2	4	274	1	0	0	0	0	0	0	0	1	11421	767	27	1		1	PANX2	22	50615855	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	423519	50615855	688711	1689	140995											
SELO	83642	broad.mit.edu	37	chr22	50649302	50649302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctggaggaagacggggCgctggtgtccaagctcctgg	19	9	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50649302C>T	uc011arr.1	+	5	1371	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	SELO_uc010hap.2_Missense_Mutation_p.A249V|SELO_uc003bjy.2_Missense_Mutation_p.A118V|SELO_uc003bjz.2_Missense_Mutation_p.A118V	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	438											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAAGACGGGGCGCTGGTGTCC	0.617											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50649302	C	T	50649302	3	4	274	1	0	0	0	0	1	0	0	0	14018	768	27	1	1331	1	SELO	22	50649302	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	33447	50649302	655264	1690	140996											
TUBGCP6	85378	broad.mit.edu	37	chr22	50657578	50657578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcagtgcctcatagtgCgcctccaggtgcagctccac	11	16	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50657578C>T	uc003bkb.1	-	20	5057	c.4545G>A	c.(4543-4545)GCG>GCA	p.A1515A	TUBGCP6_uc003bka.1_Silent_p.A602A|TUBGCP6_uc010har.1_Silent_p.A1507A|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1515					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		CCTCATAGTGCGCCTCCAGGT	0.647													T	50657578	C	T	50657578	2	4	274	1	0	0	0	0	0	0	0	1	16767	755	27	1		1	TUBGCP6	22	50657578	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8276	50657578	646988	1691	140997											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659740	50659740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgggctggctgctcccCtcctccagagcagcacgcct	11	17	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50659740C>A	uc003bkb.1	-	16	3560	c.3048G>T	c.(3046-3048)GAG>GAT	p.E1016D	TUBGCP6_uc003bka.1_Missense_Mutation_p.E103D|TUBGCP6_uc010har.1_Missense_Mutation_p.E1008D|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.E212D	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1016					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		GGCTGCTCCCCTCCTCCAGAG	0.652													A	50659740	C	A	50659740	3	1	274	1	0	0	0	0	1	0	0	0	16767	680	24	5	2451	5	TUBGCP6	22	50659740	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2162	50659740	644826	1692	140998											
PLXNB2	23654	broad.mit.edu	37	chr22	50728019	50728019	+	Frame_Shift_Del	DEL	G	G	-													cacgggcctcccgggtgcctGtgtaacaggcgttgcggttg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50728018_50728018TG>T	uc003bkv.4	-	2	1089	c.996_996CA>A	c.(994-996)acafs	p.T332fs		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	332	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)		CCCGGGTGCCTGTGTAACAGG	0.672													-	50728019	G	-	50728019	7	5	274	1	0	1	0	1	0	0	0	0	12124	1377	48	0	4661	0	PLXNB2	22	50728019	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	68279	50728019	576547	1693	140999											
KLHDC7B	113730	broad.mit.edu	37	chr22	50988099	50988099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccgcttcgacctgctgCggggcgtgggcgccgccgtg	17	14	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:50988099C>T	uc003bmi.2	+	1	1638	c.1504C>T	c.(1504-1506)CGG>TGG	p.R502W		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	502	Kelch 5.									central_nervous_system(1)	1		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)		CGACCTGCTGCGGGGCGTGGG	0.697													T	50988099	C	T	50988099	3	4	274	1	0	0	0	0	1	0	0	0	8361	759	27	1	1506	1	KLHDC7B	22	50988099	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	260080	50988099	316467	1694	141000											
ARSA	410	broad.mit.edu	37	chr22	51065641	51065642	+	Frame_Shift_Ins	INS	-	-	G													aatcgatggaagccctgatgINSggggggcaggaaggccccct							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chr22:51065640_51065641T>TG	uc003bna.4	-	1	422_423	c.160_161A>CA	c.(160-162)catfs	p.H54fs	ARSA_uc021wsd.1_Frame_Shift_Ins_p.H140fs|ARSA_uc021wse.1_Frame_Shift_Ins_p.H140fs|ARSA_uc021wsf.1_Frame_Shift_Ins_p.H140fs|ARSA_uc003bmz.4_Frame_Shift_Ins_p.H138fs|ARSA_uc010hbf.3_Frame_Shift_Ins_p.H138fs	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	138						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)	GAAGCCCTGATGGGGGGGCAGG	0.673													G	51065642	-	G	51065641	7	5	274	1	0	1	1	0	0	0	0	0	987	1348	47	0	1139	0	ARSA	22	51065641	Frame_Shift_Ins	INS	-	TCGA-HU-A4GU-01A-11D-A25D-08	77542	51065641	238925	1695	141001											
NLGN4X	57502	broad.mit.edu	37	chrX	5810908	5810908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatttgtactgttttgtcCtccactgaaggtgttaaaag	8	6	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:5810908C>T	uc010ndh.2	-	6	2902	c.2401G>A	c.(2401-2403)GGA>AGA	p.G801R	NLGN4X_uc004crp.2_Missense_Mutation_p.G821R|NLGN4X_uc004crq.2_Missense_Mutation_p.G801R|NLGN4X_uc010ndi.2_Missense_Mutation_p.G838R|NLGN4X_uc004crr.2_Missense_Mutation_p.G801R|NLGN4X_uc010ndj.2_Missense_Mutation_p.G801R	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	801	Cytoplasmic (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						CTGTTTTGTCCTCCACTGAAG	0.488													T	5810908	C	T	5810908	3	4	274	1	0	0	0	0	1	0	0	0	10464	690	24	4	53	4	NLGN4X	23	5810908	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08		5810908	149459652	1696	141002											
KAL1	3730	broad.mit.edu	37	chrX	8565134	8565134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccattcgaacaacatttcTtcaccccagagcactcattg	4	15	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:8565134T>G	uc004csf.2	-	4	632	c.482A>C	c.(481-483)AAG>ACG	p.K161T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	161	WAP.				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			ovary(3)|pancreas(1)	4						ACAACATTTCTTCACCCCAGA	0.537													G	8565134	T	G	8565134	3	3	274	1	0	0	0	0	1	0	0	0	7974	1609	56	5	1604	5	KAL1	23	8565134	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	2754226	8565134	146705426	1697	141003											
MID1	4281	broad.mit.edu	37	chrX	10535364	10535364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgtagggtgacgttgCgcttgagcccgtctagacct	13	10	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:10535364C>T	uc004cte.3	-	2	415	c.224G>A	c.(223-225)CGC>CAC	p.R75H	MID1_uc004ctd.3_5'Flank|MID1_uc004ctg.3_Missense_Mutation_p.R75H|MID1_uc004cth.3_Missense_Mutation_p.R75H|MID1_uc004ctk.3_Missense_Mutation_p.R75H|MID1_uc004cti.3_Missense_Mutation_p.R75H|MID1_uc004ctj.3_Missense_Mutation_p.R75H|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.R75H|MID1_uc004ctn.1_Missense_Mutation_p.R75H|MID1_uc004cto.1_Missense_Mutation_p.R75H|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.2_Missense_Mutation_p.R75H|MID1_uc004ctu.2_Missense_Mutation_p.R75H|MID1_uc004ctv.2_Missense_Mutation_p.R75H|MID1_uc004ctw.2_Missense_Mutation_p.R75H|MID1_uc010ndy.1_Missense_Mutation_p.R75H|uc010ndz.1_5'Flank|MID1_uc004cty.2_Missense_Mutation_p.R75H|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Missense_Mutation_p.R75H|MID1_uc010nea.1_5'Flank|MID1_uc004cuc.1_Missense_Mutation_p.R75H|MID1_uc004cud.1_Missense_Mutation_p.R75H|MID1_uc004cue.1_Missense_Mutation_p.R75H|MID1_uc004cuf.1_Missense_Mutation_p.R75H|MID1_uc004cug.1_Missense_Mutation_p.R75H	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	75					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			ovary(2)|pancreas(1)	3						GGTGACGTTGCGCTTGAGCCC	0.622													T	10535364	C	T	10535364	3	4	274	1	0	0	0	0	1	0	0	0	9576	768	27	1	1815	1	MID1	23	10535364	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1970230	10535364	144735196	1698	141004											
RAI2	10742	broad.mit.edu	37	chrX	17818711	17818711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcatagccctgaagcaCggagtcttctcttttgaagg	11	9	3	2	rs147416008	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:17818711C>T	uc004cyf.2	-	3	1990	c.1420G>A	c.(1420-1422)GTG>ATG	p.V474M	RAI2_uc004cyg.2_Missense_Mutation_p.V474M|RAI2_uc010nfa.2_Missense_Mutation_p.V474M|RAI2_uc004cyh.3_Missense_Mutation_p.V474M|RAI2_uc011miy.1_Missense_Mutation_p.V424M	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	474					embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)					CCCTGAAGCACGGAGTCTTCT	0.478													T	17818711	C	T	17818711	3	4	274	1	0	0	0	0	1	0	0	0	13009	536	19	1	176	1	RAI2	23	17818711	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	7283347	17818711	137451849	1699	141005											
PHKA2	5256	broad.mit.edu	37	chrX	18958163	18958163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgacagcatccataacGcccctaataagagaaagtac	8	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:18958163G>A	uc004cyv.3	-	9	1298	c.868C>T	c.(868-870)CGT>TGT	p.R290C		NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	290					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					CATCCATAACGCCCCTAATAA	0.368													A	18958163	G	A	18958163	3	1	274	1	0	0	0	0	1	0	0	0	11844	1087	38	1	2939	1	PHKA2	23	18958163	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	1139452	18958163	136312397	1700	141006											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-													tgttcccaaagaggatgacaGgggggagggcgccgctgagg							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:19560215delG	uc004czm.2	-	16	2036	c.1720delC	c.(1720-1722)CTGfs	p.L574fs	SH3KBP1_uc011mje.1_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.1_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.2_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.2_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	574					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				0						GAGGATGACAGGGGGGAGGGC	0.647													-	19560215	G	-	19560215	7	5	274	1	0	1	0	1	0	0	0	0	14255	991	35	0	289	0	SH3KBP1	23	19560215	Frame_Shift_Del	DEL	G	TCGA-HU-A4GU-01A-11D-A25D-08	602052	19560215	135710345	1701	141007											
SMS	6611	broad.mit.edu	37	chrX	21985370	21985370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccaggagcaggggatgGcggagtcggtgcacacctgg	17	9	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:21985370G>A	uc004dag.2	+	2	207	c.106G>A	c.(106-108)GCG>ACG	p.A36T	SMS_uc011mjq.1_5'UTR|SMS_uc004daf.1_Missense_Mutation_p.A36T	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	36					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	GCAGGGGATGGCGGAGTCGGT	0.522													A	21985370	G	A	21985370	3	1	274	1	0	0	0	0	1	0	0	0	14813	1203	42	2	112	2	SMS	23	21985370	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2425155	21985370	133285190	1702	141008											
DMD	1756	broad.mit.edu	37	chrX	32662332	32662332	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttgtacttcagtttcTtcatcttctgataattttcc	4	10	6	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:32662332T>G	uc004dda.1	-	11	1492	c.1248A>C	c.(1246-1248)GAA>GAC	p.E416D	DMD_uc004dcz.2_Missense_Mutation_p.E293D|DMD_uc004dcy.1_Missense_Mutation_p.E412D|DMD_uc004ddb.1_Missense_Mutation_p.E408D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E408D|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	416	Spectrin 1.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				CTTCAGTTTCTTCATCTTCTG	0.408													G	32662332	T	G	32662332	3	3	274	1	0	0	0	0	1	0	0	0	4580	1606	56	5	10328	5	DMD	23	32662332	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	10676962	32662332	122608228	1703	141009											
CYBB	1536	broad.mit.edu	37	chrX	37665662	37665662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttctactggctgtgccGggacacacatgcctttgagt	10	12	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:37665662G>A	uc004ddr.2	+	11	1398	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	CYBB_uc011mkf.1_Missense_Mutation_p.R414Q|CYBB_uc011mkg.1_Missense_Mutation_p.R179Q	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	446	Cytoplasmic (Potential).				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)|skin(1)	2						TGGCTGTGCCGGGACACACAT	0.488													A	37665662	G	A	37665662	3	1	274	1	0	0	0	0	1	0	0	0	4133	1116	39	1	1379	1	CYBB	23	37665662	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5003330	37665662	117604898	1704	141010											
RPGR	6103	broad.mit.edu	37	chrX	38160591	38160591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcctaattttccgtggCgaccatctccaaaagtatac	6	12	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:38160591C>T	uc004ded.1	-	9	1136	c.968G>A	c.(967-969)CGC>CAC	p.R323H	RPGR_uc004deb.2_Missense_Mutation_p.R323H|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.R8H	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	323	RCC1 6.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TTTTCCGTGGCGACCATCTCC	0.328													T	38160591	C	T	38160591	3	4	274	1	0	0	0	0	1	0	0	0	13548	768	27	1	3077	1	RPGR	23	38160591	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	494929	38160591	117109969	1705	141011											
USP9X	8239	broad.mit.edu	37	chrX	40982957	40982957	+	Frame_Shift_Del	DEL	C	C	-													ctcctgatggacagtctcagCcccccctccaacagaatcag							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:40982957delC	uc004dfb.2	+	2	709	c.76delC	c.(76-78)CCCfs	p.P26fs	USP9X_uc004dfc.2_Frame_Shift_Del_p.P26fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	26					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			lung(3)|breast(2)|ovary(1)	6						ACAGTCTCAGCCCCCCCTCCA	0.428													-	40982957	C	-	40982957	7	5	274	1	0	1	0	1	0	0	0	0	17087	739	26	0	78	0	USP9X	23	40982957	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	2822366	40982957	114287603	1706	141012											
DDX3X	1654	broad.mit.edu	37	chrX	41201758	41201758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgttcaggtttgatgatCgtggacggagtgattacgat	14	5	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:41201758C>T	uc004dfe.2	+	5	1150	c.295C>T	c.(295-297)CGT>TGT	p.R99C	DDX3X_uc010nhf.1_Missense_Mutation_p.R83C|DDX3X_uc004dff.2_Missense_Mutation_p.R99C|DDX3X_uc011mkq.1_Missense_Mutation_p.R83C|DDX3X_uc011mkr.1_Missense_Mutation_p.R99C|DDX3X_uc011mks.1_Missense_Mutation_p.R99C|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	99					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						GTTTGATGATCGTGGACGGAG	0.428										HNSCC(61;0.18)			T	41201758	C	T	41201758	3	4	274	1	0	0	0	0	1	0	0	0	4358	884	31	1	313	1	DDX3X	23	41201758	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	218801	41201758	114068802	1707	141013											
NYX	60506	broad.mit.edu	37	chrX	41333566	41333566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctgctctacctggaccGcaacagcatcgccttcgtgg	11	15	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:41333566G>A	uc004dfh.2	+	2	1290	c.860G>A	c.(859-861)CGC>CAC	p.R287H	NYX_uc011mku.1_Missense_Mutation_p.R282H	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	287	LRR 10.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						TACCTGGACCGCAACAGCATC	0.701													A	41333566	G	A	41333566	3	1	274	1	0	0	0	0	1	0	0	0	10797	1087	38	1	866	1	NYX	23	41333566	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	131808	41333566	113936994	1708	141014											
GPR82	27197	broad.mit.edu	37	chrX	41586781	41586781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtactgggcataatcAttccagttaccgtatactac	8	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:41586781A>G	uc004dfs.1	+	3	742	c.502A>G	c.(502-504)ATT>GTT	p.I168V	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.I168V|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	168	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						GGGCATAATCATTCCAGTTAC	0.408													G	41586781	A	G	41586781	3	3	274	1	0	0	0	0	1	0	0	0	6712	217	8	3	504	3	GPR82	23	41586781	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	253215	41586781	113683779	1709	141015											
DUSP21	63904	broad.mit.edu	37	chrX	44703615	44703615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaccgatgctcgtgactcGcgtctctacgacttttttga	9	11	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:44703615G>A	uc004dgd.2	+	1	367	c.237G>A	c.(235-237)TCG>TCA	p.S79S		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	79	Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						CTCGTGACTCGCGTCTCTACG	0.527													A	44703615	G	A	44703615	2	1	274	1	0	0	0	0	0	0	0	1	4820	1074	38	1		1	DUSP21	23	44703615	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3116834	44703615	110566945	1710	141016											
ELK1	2002	broad.mit.edu	37	chrX	47497297	47497297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggtcccggggcttccgGcccttctgcggctgggagat	15	13	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:47497297G>A	uc004dik.3	-	5	1261	c.939C>T	c.(937-939)GGC>GGT	p.G313G	ELK1_uc010nhv.2_Silent_p.G313G|ELK1_uc010nhw.2_Silent_p.G203G|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	313					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 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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GGGGCTTCCGGCCCTTCTGCG	0.716													A	47497297	G	A	47497297	2	1	274	1	0	0	0	0	0	0	0	1	5059	1190	42	2		2	ELK1	23	47497297	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	2793682	47497297	107773263	1711	141017											
ZNF81	347344	broad.mit.edu	37	chrX	47775652	47775652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaggccttcaCcgacaggtcaaatttcaata	10	8	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:47775652C>T	uc010nhy.1	+	6	1975	c.1607C>T	c.(1606-1608)ACC>ATC	p.T536I		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	536	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				AAGGCCTTCACCGACAGGTCA	0.448													T	47775652	C	T	47775652	3	4	274	1	0	0	0	0	1	0	0	0	18171	507	18	4	1621	4	ZNF81	23	47775652	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	278355	47775652	107494908	1712	141018											
TIMM17B	10245	broad.mit.edu	37	chrX	48751229	48751229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgaggaggatgccaacGccctcaatgagggccaacag	14	11	1	2	rs145478928	byFrequency	TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:48751229G>A	uc004dlc.1	-	6	533	c.384C>T	c.(382-384)GGC>GGT	p.G128G	TIMM17B_uc004dla.1_Silent_p.G178G|TIMM17B_uc004dlb.1_Silent_p.G148G	NM_005834	NP_005825	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17	128	Helical; (Potential).				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						GGATGCCAACGCCCTCAATGA	0.597													A	48751229	G	A	48751229	2	1	274	1	0	0	0	0	0	0	0	1	15906	1074	38	1		1	TIMM17B	23	48751229	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	975577	48751229	106519331	1713	141019											
PRICKLE3	4007	broad.mit.edu	37	chrX	49032321	49032321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgatggtgatggtgatTatgatgatggtggcggcgac	18	3	0	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:49032321T>C	uc004dmy.1	-	9	1575	c.1549A>G	c.(1549-1551)AAT>GAT	p.N517D	PRICKLE3_uc011mmv.1_Missense_Mutation_p.N449D|PRICKLE3_uc011mmw.1_Missense_Mutation_p.N436D|PRICKLE3_uc011mmx.1_Missense_Mutation_p.N479D	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	517	Poly-His.						protein binding|zinc ion binding			breast(1)	1						tgatggtgattatgatgatgg	0.602													C	49032321	T	C	49032321	3	2	274	1	0	0	0	0	1	0	0	0	12488	1754	61	3	302	3	PRICKLE3	23	49032321	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	281092	49032321	106238239	1714	141020											
PPP1R3F	89801	broad.mit.edu	37	chrX	49127023	49127023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcccggccaggcatccGcctcctcgcccgacgacggc	13	19	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:49127023G>A	uc004dnh.1	+	1	707	c.691G>A	c.(691-693)GCC>ACC	p.A231T	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	231	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CCAGGCATCCGCCTCCTCGCC	0.736													A	49127023	G	A	49127023	3	1	274	1	0	0	0	0	1	0	0	0	12375	1087	38	1	693	1	PPP1R3F	23	49127023	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	94702	49127023	106143537	1715	141021											
HUWE1	10075	broad.mit.edu	37	chrX	53575028	53575028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccccctcaccgccagcGctcactggcactgacttcac	7	19	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:53575028G>A	uc004dsp.2	-	68	10644	c.10242C>T	c.(10240-10242)AGC>AGT	p.S3414S	HUWE1_uc004dsn.2_Silent_p.S2222S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3414					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CACCGCCAGCGCTCACTGGCA	0.557													A	53575028	G	A	53575028	2	1	274	1	0	0	0	0	0	0	0	1	7461	1078	38	1		1	HUWE1	23	53575028	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	4448005	53575028	101695532	1716	141022											
FGD1	2245	broad.mit.edu	37	chrX	54496700	54496700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctgatgctatcaatgcCgctgtcccggttgggcacct	12	13	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54496700C>T	uc004dtg.2	-	4	1584	c.850G>A	c.(850-852)GGC>AGC	p.G284S	FGD1_uc011moi.1_Missense_Mutation_p.G42S	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	284	Pro-rich.				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			ovary(3)|skin(2)|central_nervous_system(1)	6						CTATCAATGCCGCTGTCCCGG	0.687													T	54496700	C	T	54496700	3	4	274	1	0	0	0	0	1	0	0	0	5832	652	23	1	2095	1	FGD1	23	54496700	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	921672	54496700	100773860	1717	141023											
ITIH5L	347365	broad.mit.edu	37	chrX	54780160	54780160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagatcttctcttctgaGtgtgggatttggatcacaaa	10	7	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54780160G>A	uc004dtj.2	-	11	3306	c.3276C>T	c.(3274-3276)CAC>CAT	p.H1092H		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1092					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TCTCTTCTGAGTGTGGGATTT	0.502													A	54780160	G	A	54780160	2	1	274	1	0	0	0	0	0	0	0	1	7908	1020	36	4		4	ITIH5L	23	54780160	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	283460	54780160	100490400	1718	141024											
TRO	7216	broad.mit.edu	37	chrX	54949190	54949190	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaccaagaaggccccTataaagactattactaaggc	8	10	0	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54949190T>G	uc004dtq.2	+	3	332	c.225T>G	c.(223-225)CCT>CCG	p.P75P	TRO_uc011moj.1_Silent_p.P18P|TRO_uc004dts.2_Silent_p.P75P|TRO_uc004dtr.2_Silent_p.P75P|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	75					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						AGAAGGCCCCTATAAAGACTA	0.532													G	54949190	T	G	54949190	2	3	274	1	0	0	0	0	0	0	0	1	16571	1509	53	5		5	TRO	23	54949190	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	169030	54949190	100321370	1719	141025											
TRO	7216	broad.mit.edu	37	chrX	54953052	54953052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcaagttggggctgcGccctgggtatgactgggctc	17	11	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:54953052G>A	uc004dtq.2	+	9	1801	c.1694G>A	c.(1693-1695)CGC>CAC	p.R565H	TRO_uc004dts.2_Missense_Mutation_p.R565H|TRO_uc004dtr.2_Missense_Mutation_p.R565H|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.R168H|TRO_uc011mok.1_Missense_Mutation_p.R96H|TRO_uc004dtw.2_Missense_Mutation_p.R168H|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	565	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						TTGGGGCTGCGCCCTGGGTAT	0.577													A	54953052	G	A	54953052	3	1	274	1	0	0	0	0	1	0	0	0	16571	1087	38	1	1724	1	TRO	23	54953052	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3862	54953052	100317508	1720	141026											
FAM123B	139285	broad.mit.edu	37	chrX	63412262	63412262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtcccccacagggccaTtgggtgggtttacctctcct	13	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:63412262T>C	uc004dvo.2	-	2	1178	c.905A>G	c.(904-906)AAT>AGT	p.N302S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	302					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CACAGGGCCATTGGGTGGGTT	0.537													C	63412262	T	C	63412262	3	2	274	1	0	0	0	0	1	0	0	0	5423	1493	52	3	2506	3	FAM123B	23	63412262	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	8459210	63412262	91858298	1721	141027											
MSN	4478	broad.mit.edu	37	chrX	64955210	64955210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccatgaactatacatgCgccgtcgcaagcctgatacc	9	13	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:64955210C>T	uc004dwf.2	+	8	1075	c.877C>T	c.(877-879)CGC>TGC	p.R293C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	293	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						ACTATACATGCGCCGTCGCAA	0.557			T	ALK	ALCL								T	64955210	C	T	64955210	3	4	274	1	0	0	0	0	1	0	0	0	9885	768	27	1	907	1	MSN	23	64955210	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1542948	64955210	90315350	1722	141028											
AR	367	broad.mit.edu	37	chrX	66765826	66765826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagttccacccgctgtgCgtcccactccttgtgcccca	10	17	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:66765826C>T	uc004dwu.1	+	1	1953	c.838C>T	c.(838-840)CGT>TGT	p.R280C	AR_uc011mpd.1_Missense_Mutation_p.R280C|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.R280C	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	278	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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	ACCCGCTGTGCGTCCCACTCC	0.577									Androgen_Insensitivity_Syndrome				T	66765826	C	T	66765826	3	4	274	1	0	0	0	0	1	0	0	0	836	768	27	1	840	1	AR	23	66765826	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	1810616	66765826	88504734	1723	141029											
HDAC8	55869	broad.mit.edu	37	chrX	71788641	71788641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccggatgatcatcatcGccctcttggctgaccttctg	10	13	4	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:71788641G>A	uc004eau.2	-	3	300	c.258C>T	c.(256-258)GGC>GGT	p.G86G	HDAC8_uc011mqe.1_5'Flank|HDAC8_uc011mqf.1_5'UTR|HDAC8_uc011mqg.1_Intron|HDAC8_uc011mqh.1_Intron|HDAC8_uc010nlk.1_Intron|HDAC8_uc004eav.2_Silent_p.G86G|HDAC8_uc004eaw.2_RNA	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	86	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				0	Renal(35;0.156)				Vorinostat(DB02546)	GATCATCATCGCCCTCTTGGC	0.448													A	71788641	G	A	71788641	2	1	274	1	0	0	0	0	0	0	0	1	7013	1074	38	1		1	HDAC8	23	71788641	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5022815	71788641	83481919	1724	141030											
MAGEE1	57692	broad.mit.edu	37	chrX	75649600	75649600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgtggaccggaaccCctccaagtgttcccttgttt	9	13	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:75649600C>A	uc004ecm.1	+	1	1484	c.1277C>A	c.(1276-1278)CCC>CAC	p.P426H		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	426						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GACCGGAACCCCTCCAAGTGT	0.587													A	75649600	C	A	75649600	3	1	274	1	0	0	0	0	1	0	0	0	9185	623	22	5	1279	5	MAGEE1	23	75649600	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	3860959	75649600	79620960	1725	141031											
CYLC1	1538	broad.mit.edu	37	chrX	83128395	83128395	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaagatttgaagaggTcaaagactagtaatgatccc	9	6	1	6			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:83128395T>G	uc004eei.1	+	4	700	c.679T>G	c.(679-681)TCA>GCA	p.S227A	CYLC1_uc004eeh.1_Missense_Mutation_p.S226A	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	227					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TTTGAAGAGGTCAAAGACTAG	0.318													G	83128395	T	G	83128395	3	3	274	1	0	0	0	0	1	0	0	0	4141	1667	58	5	693	5	CYLC1	23	83128395	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	7478795	83128395	72142165	1726	141032											
ZNF711	7552	broad.mit.edu	37	chrX	84510604	84510604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttactggtcctaatggacActtagaacatgtggtccaag	10	8	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:84510604A>C	uc004eeo.2	+	4	766	c.419A>C	c.(418-420)CAC>CCC	p.H140P	ZNF711_uc004eep.2_Missense_Mutation_p.H140P|ZNF711_uc004eeq.2_Missense_Mutation_p.H140P	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	140					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						CCTAATGGACACTTAGAACAT	0.428													C	84510604	A	C	84510604	3	2	274	1	0	0	0	0	1	0	0	0	18113	159	6	5	425	5	ZNF711	23	84510604	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	1382209	84510604	70759956	1727	141033											
DACH2	117154	broad.mit.edu	37	chrX	85404035	85404035	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctccgcgggctgggggccatCcagcccggggtaaaccgctg	16	15	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:85404035C>G	uc004eew.2	+	1	581	c.411C>G	c.(409-411)ATC>ATG	p.I137M	DACH2_uc004eex.2_Missense_Mutation_p.I137M|DACH2_uc010nmq.2_Translation_Start_Site	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	137	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TGGGGGCCATCCAGCCCGGGG	0.557													G	85404035	C	G	85404035	3	3	274	1	0	0	0	0	1	0	0	0	4221	845	30	5	413	5	DACH2	23	85404035	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	893431	85404035	69866525	1728	141034											
RPA4	29935	broad.mit.edu	37	chrX	96139929	96139929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaggacgaagtgctgcGtttgattcatgagtgtcctc	11	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:96139929G>A	uc004efv.3	+	1	918	c.620G>A	c.(619-621)CGT>CAT	p.R207H	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	207					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						GAAGTGCTGCGTTTGATTCAT	0.507								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	96139929	G	A	96139929	3	1	274	1	0	0	0	0	1	0	0	0	13539	1145	40	1	622	1	RPA4	23	96139929	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	10735894	96139929	59130631	1729	141035											
RPA4	29935	broad.mit.edu	37	chrX	96140040	96140040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgattgattatctgaccgTtgagggccacatctatccca	9	11	2	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:96140040T>C	uc004efv.3	+	1	1029	c.731T>C	c.(730-732)GTT>GCT	p.V244A	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	244					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						TATCTGACCGTTGAGGGCCAC	0.512								Other_identified_genes_with_known_or_suspected_DNA_repair_function					C	96140040	T	C	96140040	3	2	274	1	0	0	0	0	1	0	0	0	13539	1725	60	3	733	3	RPA4	23	96140040	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	111	96140040	59130520	1730	141036											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667424	100667424	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtggactttcaggggCgaagcacaggggaagccttt	15	9	1	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100667424C>T	uc004ehm.2	+	2	618	c.448C>T	c.(448-450)CGA>TGA	p.R150*	HNRNPH2_uc004ehn.2_Nonsense_Mutation_p.R150*	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	150	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						CTTTCAGGGGCGAAGCACAGG	0.473													T	100667424	C	T	100667424	4	4	274	1	0	0	0	0	0	1	0	0	7267	760	27	1	450	1	HNRNPH2	23	100667424	Nonsense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	4527384	100667424	54603136	1731	141037											
ARMCX3	51566	broad.mit.edu	37	chrX	100880572	100880572	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcagcgcaggcttaaAgtatacatgaatcaagtgtg	10	6	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100880572A>T	uc004ehz.1	+	5	1136	c.603A>T	c.(601-603)AAA>AAT	p.K201N	ARMCX3_uc004eia.1_Missense_Mutation_p.K201N|ARMCX3_uc004eib.1_Missense_Mutation_p.K201N|ARMCX3_uc004eic.1_Missense_Mutation_p.K201N	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	201						integral to membrane	binding			ovary(1)|lung(1)	2						GCAGGCTTAAAGTATACATGA	0.398													T	100880572	A	T	100880572	3	4	274	1	0	0	0	0	1	0	0	0	961	69	3	5	605	5	ARMCX3	23	100880572	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	213148	100880572	54389988	1732	141038											
ARMCX2	9823	broad.mit.edu	37	chrX	100911645	100911645	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccatctccaggacggaaGcccatccccagttcgtctac	8	18	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100911645G>T	uc004eid.2	-	3	1285	c.930C>A	c.(928-930)GGC>GGA	p.G310G	ARMCX2_uc004eie.3_Silent_p.G310G|ARMCX2_uc004eif.3_Silent_p.G310G|ARMCX2_uc004eig.3_Silent_p.G310G|ARMCX2_uc010nnt.2_Silent_p.G310G	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	310						integral to membrane	binding			ovary(6)	6						CAGGACGGAAGCCCATCCCCA	0.597													T	100911645	G	T	100911645	2	4	274	1	0	0	0	0	0	0	0	1	960	958	34	5		5	ARMCX2	23	100911645	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	31073	100911645	54358915	1733	141039											
ARMCX2	9823	broad.mit.edu	37	chrX	100912155	100912155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcaccccgggaggtggTgctattgcagaagccattgc	13	11	2	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:100912155T>C	uc004eid.2	-	3	775	c.420A>G	c.(418-420)GCA>GCG	p.A140A	ARMCX2_uc004eie.3_Silent_p.A140A|ARMCX2_uc004eif.3_Silent_p.A140A|ARMCX2_uc004eig.3_Silent_p.A140A|ARMCX2_uc010nnt.2_Silent_p.A140A	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	140	Ala-rich.					integral to membrane	binding			ovary(6)	6						CGGGAGGTGGTGCTATTGCAG	0.627													C	100912155	T	C	100912155	2	2	274	1	0	0	0	0	0	0	0	1	960	1683	59	3		3	ARMCX2	23	100912155	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	510	100912155	54358405	1734	141040											
PRPS1	5631	broad.mit.edu	37	chrX	106890852	106890852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagacttctctcagctggcGccaccagagtttatgccatc	8	14	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:106890852G>A	uc004ene.3	+	6	926	c.721G>A	c.(721-723)GCC>ACC	p.A241T	PRPS1_uc010npg.2_Missense_Mutation_p.A208T|PRPS1_uc011msj.1_Missense_Mutation_p.A37T	NM_002764	NP_002755	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	241					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)|large_intestine(1)	4						CTCAGCTGGCGCCACCAGAGT	0.438													A	106890852	G	A	106890852	3	1	274	1	0	0	0	0	1	0	0	0	12578	1087	38	1	743	1	PRPS1	23	106890852	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	5978697	106890852	48379708	1735	141041											
TSC22D3	1831	broad.mit.edu	37	chrX	106959928	106959928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcggttacctgttgtcCagcttaacggaaaccacatc	9	13	0	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:106959928C>T	uc004eng.2	-	1	364	c.114G>A	c.(112-114)CTG>CTA	p.L38L	TSC22D3_uc004enf.2_5'Flank|TSC22D3_uc004enh.2_Intron|TSC22D3_uc004eni.2_Intron|TSC22D3_uc004enj.2_Intron	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	38	AP1-binding (By similarity).						sequence-specific DNA binding transcription factor activity				0						ACCTGTTGTCCAGCTTAACGG	0.637													T	106959928	C	T	106959928	2	4	274	1	0	0	0	0	0	0	0	1	16606	581	21	4		4	TSC22D3	23	106959928	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	69076	106959928	48310632	1736	141042											
TEX13B	56156	broad.mit.edu	37	chrX	107225281	107225281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcctttcgtgtgcctgGccattttctcgatgatgaag	13	10	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:107225281G>A	uc004enn.1	-	2	170	c.77C>T	c.(76-78)GCC>GTC	p.A26V		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	26										ovary(1)	1						CGTGTGCCTGGCCATTTTCTC	0.562													A	107225281	G	A	107225281	3	1	274	1	0	0	0	0	1	0	0	0	15774	1203	42	2	869	2	TEX13B	23	107225281	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	265353	107225281	48045279	1737	141043											
COL4A5	1287	broad.mit.edu	37	chrX	107869522	107869522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattacctggacagaaaggCgacaaaggtgatcctggtat	13	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:107869522C>T	uc004enz.1	+	36	3391	c.3189C>T	c.(3187-3189)GGC>GGT	p.G1063G	COL4A5_uc011mso.1_Silent_p.G1063G|COL4A5_uc004eob.1_Silent_p.G671G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1063	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GACAGAAAGGCGACAAAGGTG	0.488									Alport_syndrome_with_Diffuse_Leiomyomatosis				T	107869522	C	T	107869522	2	4	274	1	0	0	0	0	0	0	0	1	3694	755	27	1		1	COL4A5	23	107869522	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	644241	107869522	47401038	1738	141044											
COL4A5	1287	broad.mit.edu	37	chrX	107909801	107909801	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatggtattcctggacCagctggacagaagggtgaac	13	8	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:107909801C>A	uc004enz.1	+	39	3732	c.3530C>A	c.(3529-3531)CCA>CAA	p.P1177Q	COL4A5_uc011mso.1_Missense_Mutation_p.P1177Q	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1177	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ATTCCTGGACCAGCTGGACAG	0.443									Alport_syndrome_with_Diffuse_Leiomyomatosis				A	107909801	C	A	107909801	3	1	274	1	0	0	0	0	1	0	0	0	3694	594	21	5	3684	5	COL4A5	23	107909801	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	40279	107909801	47360759	1739	141045											
GUCY2F	2986	broad.mit.edu	37	chrX	108718609	108718609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatgactccagcatgaGcccactggaaatatttcatg	9	9	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:108718609G>T	uc004eod.3	-	2	833	c.557C>A	c.(556-558)GCT>GAT	p.A186D	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	186	Extracellular (Potential).				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			lung(4)|breast(3)|central_nervous_system(1)	8						TCCAGCATGAGCCCACTGGAA	0.478											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	108718609	G	T	108718609	3	4	274	1	0	0	0	0	1	0	0	0	6898	971	34	5	2841	5	GUCY2F	23	108718609	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	808808	108718609	46551951	1740	141046											
SLC25A43	203427	broad.mit.edu	37	chrX	118586962	118586962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcagagtttgcagccccaGgaattacgagaattaaagaa	10	7	1	3			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:118586962G>T	uc004erd.2	+	5	1304	c.960G>T	c.(958-960)CAG>CAT	p.Q320H	SLC25A43_uc011mtt.1_3'UTR	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	320					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						TGCAGCCCCAGGAATTACGAG	0.398													T	118586962	G	T	118586962	3	4	274	1	0	0	0	0	1	0	0	0	14508	991	35	5	978	5	SLC25A43	23	118586962	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	9868353	118586962	36683598	1741	141047											
UBE2A	7319	broad.mit.edu	37	chrX	118717107	118717107	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtctctgttggatgaaccCaatcccaatagtccagcaaa	7	11	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:118717107C>A	uc004erl.2	+	6	524	c.348C>A	c.(346-348)CCC>CCA	p.P116P	UBE2A_uc004erm.2_Silent_p.P86P|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_Silent_p.P41P	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	116					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0						TGGATGAACCCAATCCCAATA	0.398								Direct_reversal_of_damage|Rad6_pathway					A	118717107	C	A	118717107	2	1	274	1	0	0	0	0	0	0	0	1	16841	581	21	5		5	UBE2A	23	118717107	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	130145	118717107	36553453	1742	141048											
THOC2	57187	broad.mit.edu	37	chrX	122755101	122755101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttaacattttcctttgAtttcatttcctttgctatat	2	9	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:122755101A>G	uc004etu.2	-	31	4155	c.4123T>C	c.(4123-4125)TCA>CCA	p.S1375P	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.S196P	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1375	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TTTTCCTTTGATTTCATTTCC	0.413													G	122755101	A	G	122755101	3	3	274	1	0	0	0	0	1	0	0	0	15862	333	12	3	690	3	THOC2	23	122755101	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	4037994	122755101	32515459	1743	141049											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299270	125299270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagccacggtgccgtcgCgggagccgctcacagctacg	14	15	1	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:125299270C>T	uc004euk.1	-	1	665	c.638G>A	c.(637-639)CGC>CAC	p.R213H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	213	WD 2.							p.R213C(1)		lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGTGCCGTCGCGGGAGCCGCT	0.642													T	125299270	C	T	125299270	3	4	274	1	0	0	0	0	1	0	0	0	4265	768	27	1	757	1	DCAF12L2	23	125299270	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	2544169	125299270	29971290	1744	141050											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686047	125686047	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaggcacaggggatccAgggagggcagctggtagatg	18	10	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:125686047A>T	uc004eul.2	-	1	796	c.545T>A	c.(544-546)CTG>CAG	p.L182Q		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	182	WD 1.									skin(3)|ovary(1)	4						CAGGGGATCCAGGGAGGGCAG	0.672													T	125686047	A	T	125686047	3	4	274	1	0	0	0	0	1	0	0	0	4264	188	7	5	850	5	DCAF12L1	23	125686047	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	386777	125686047	29584513	1745	141051											
OCRL	4952	broad.mit.edu	37	chrX	128710001	128710001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccagtactgcaagccatGgcttcgggctgaaccttttg	11	12	0	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:128710001G>T	uc004euq.2	+	17	2006	c.1841G>T	c.(1840-1842)TGG>TTG	p.W614L	OCRL_uc004eur.2_Missense_Mutation_p.W614L	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	614					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			lung(2)|ovary(1)|kidney(1)	4						TGCAAGCCATGGCTTCGGGCT	0.468													T	128710001	G	T	128710001	3	4	274	1	0	0	0	0	1	0	0	0	10823	1357	47	5	1907	5	OCRL	23	128710001	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	3023954	128710001	26560559	1746	141052											
OR13H1	347468	broad.mit.edu	37	chrX	130678804	130678804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacaatcttctatgggTcagccatctccatgtatatg	9	9	4	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:130678804T>C	uc011muw.1	+	1	757	c.757T>C	c.(757-759)TCA>CCA	p.S253P	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Acute lymphoblastic leukemia(192;0.000636)					CTTCTATGGGTCAGCCATCTC	0.478													C	130678804	T	C	130678804	3	2	274	1	0	0	0	0	1	0	0	0	10943	1667	58	3	759	3	OR13H1	23	130678804	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	1968803	130678804	24591756	1747	141053											
ATP11C	286410	broad.mit.edu	37	chrX	138864876	138864876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaaggctacacagagtgtCcgatacccatcctaggagta	10	10	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:138864876C>T	uc004faz.2	-	18	1890	c.1791G>A	c.(1789-1791)CGG>CGA	p.R597R	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.R597R	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	597	Cytoplasmic (Potential).				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			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					CACAGAGTGTCCGATACCCAT	0.358													T	138864876	C	T	138864876	2	4	274	1	0	0	0	0	0	0	0	1	1121	842	30	4		4	ATP11C	23	138864876	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	8186072	138864876	16405684	1748	141054											
SPANXN2	494119	broad.mit.edu	37	chrX	142795143	142795143	+	Frame_Shift_Del	DEL	C	C	-													ctccatgtttgactagtcctCcccaccctcctgtgaagatc							TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142795142_142795142TC>T	uc004fbz.3	-	1	1290	c.536_536GA>A	c.(535-537)gagfs	p.E179fs		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	179										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)					TGACTAGTCCTCCCCACCCTC	0.468													-	142795143	C	-	142795143	7	5	274	1	0	1	0	1	0	0	0	0	14991	864	30	0	11	0	SPANXN2	23	142795143	Frame_Shift_Del	DEL	C	TCGA-HU-A4GU-01A-11D-A25D-08	3930267	142795143	12475417	1749	141055											
UBE2NL	389898	broad.mit.edu	37	chrX	142967464	142967464	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagacaagttggaaagaataAgtttagatattttgaaagat	9	1	0	5			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967464A>T	uc004fca.2	+	1	292	c.262A>T	c.(262-264)AGT>TGT	p.S88C		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	88							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAAGAATAAGTTTAGATAT	0.418													T	142967464	A	T	142967464	3	4	274	1	0	0	0	0	1	0	0	0	16864	72	3	5	264	5	UBE2NL	23	142967464	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	172321	142967464	12303096	1750	141056			1	63		5	5	194	N	T_G_C_A	5.712435e-10
UBE2NL	389898	broad.mit.edu	37	chrX	142967499	142967499	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagataagtggtccccagcCctgcagatccgcacagttct	9	13	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967499C>A	uc004fca.2	+	1	327	c.297C>A	c.(295-297)GCC>GCA	p.A99A		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	99							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCCCAGCCCTGCAGATCC	0.423													A	142967499	C	A	142967499	2	1	274	1	0	0	0	0	0	0	0	1	16864	610	22	5		5	UBE2NL	23	142967499	Silent	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	35	142967499	12303061	1751	141057			1	63		5	5	194	N	T_G_C_A	5.712435e-10
UBE2NL	389898	broad.mit.edu	37	chrX	142967582	142967582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccattagcaaatgatgtagTggagcagtggaagaccaacg	12	7	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967582T>C	uc004fca.2	+	1	410	c.380T>C	c.(379-381)GTG>GCG	p.V127A		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	127							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					AATGATGTAGTGGAGCAGTGG	0.453													C	142967582	T	C	142967582	3	2	274	1	0	0	0	0	1	0	0	0	16864	1696	59	3	382	3	UBE2NL	23	142967582	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	83	142967582	12302978	1752	141058			1	63		5	5	194	N	T_G_C_A	5.712435e-10
UBE2NL	389898	broad.mit.edu	37	chrX	142967616	142967616	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaacgaagcccaagccatTgaaacagctagagcatggac	9	12	0	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967616T>A	uc004fca.2	+	1	444	c.414T>A	c.(412-414)ATT>ATA	p.I138I		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	138							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAGCCATTGAAACAGCTA	0.428													A	142967616	T	A	142967616	2	1	274	1	0	0	0	0	0	0	0	1	16864	1800	63	5		5	UBE2NL	23	142967616	Silent	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	34	142967616	12302944	1753	141059			1	63		5	5	194	N	T_G_C_A	5.712435e-10
UBE2NL	389898	broad.mit.edu	37	chrX	142967657	142967657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctatatgccatgaataGtatttaaattgatccaatca	6	6	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:142967657G>A	uc004fca.2	+	1	485	c.455G>A	c.(454-456)AGT>AAT	p.S152N		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	152							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATGAATAGTATTTAAATT	0.398													A	142967657	G	A	142967657	3	1	274	1	0	0	0	0	1	0	0	0	16864	1029	36	4	457	4	UBE2NL	23	142967657	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	41	142967657	12302903	1754	141060			1	63		5	5	194	N	T_G_C_A	5.712435e-10
MTMR1	8776	broad.mit.edu	37	chrX	149901161	149901161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcacacaagcttatcAtctttgatgctcgacaaaac	5	12	3	1			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:149901161A>G	uc004fei.2	+	9	1150	c.1015A>G	c.(1015-1017)ATC>GTC	p.I339V	MTMR1_uc011mya.1_Missense_Mutation_p.I245V|MTMR1_uc004feg.1_Missense_Mutation_p.I339V|MTMR1_uc004feh.1_Missense_Mutation_p.I347V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	339	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCTTATCATCTTTGATGC	0.413													G	149901161	A	G	149901161	3	3	274	1	0	0	0	0	1	0	0	0	9938	217	8	3	1049	3	MTMR1	23	149901161	Missense_Mutation	SNP	A	TCGA-HU-A4GU-01A-11D-A25D-08	6933504	149901161	5369399	1755	141061											
L1CAM	3897	broad.mit.edu	37	chrX	153129001	153129001	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtgtcctccttatccTtcactggagacacagagagg	11	12	1	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:153129001T>G	uc004fjb.2	-	26	3569	c.3461A>C	c.(3460-3462)AAG>ACG	p.K1154T	L1CAM_uc004fjc.2_Missense_Mutation_p.K1154T|L1CAM_uc010nuo.2_Missense_Mutation_p.K1149T	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1154	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					CTCCTTATCCTTCACTGGAGA	0.642													G	153129001	T	G	153129001	3	3	274	1	0	0	0	0	1	0	0	0	8588	1609	56	5	324	5	L1CAM	23	153129001	Missense_Mutation	SNP	T	TCGA-HU-A4GU-01A-11D-A25D-08	3227840	153129001	2141559	1756	141062											
HCFC1	3054	broad.mit.edu	37	chrX	153223661	153223661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgatgtccccacctgggCggctgcagtcttcagcatgc	11	15	2	0			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:153223661C>T	uc004fjp.2	-	11	2371	c.1843G>A	c.(1843-1845)GCC>ACC	p.A615T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	615	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCTGGGCGGCTGCAGTC	0.607													T	153223661	C	T	153223661	3	4	274	1	0	0	0	0	1	0	0	0	6991	768	27	1	4328	1	HCFC1	23	153223661	Missense_Mutation	SNP	C	TCGA-HU-A4GU-01A-11D-A25D-08	94660	153223661	2046899	1757	141063											
FLNA	2316	broad.mit.edu	37	chrX	153592993	153592993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgtgaacggcatactcGccagcctcctgcggccagta	11	15	0	1	rs80338841		TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:153592993G>A	uc004fkk.2	-	13	2172	c.1923C>T	c.(1921-1923)GGC>GGT	p.G641G	FLNA_uc010nuu.1_Silent_p.G641G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	641	Filamin 4.				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)					CGGCATACTCGCCAGCCTCCT	0.622													A	153592993	G	A	153592993	2	1	274	1	0	0	0	0	0	0	0	1	5933	1074	38	1		1	FLNA	23	153592993	Silent	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	369332	153592993	1677567	1758	141064											
CLIC2	1193	broad.mit.edu	37	chrX	154563727	154563727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttgagtgccgggccgcaGgcctgacatctttgtcttta	11	12	2	2			TCGA-HU-A4GU-01A-11D-A25D-08	TCGA-HU-A4GU-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58dd2029-bf64-426c-be2b-cc783ca6d671	9d2a2f5d-8369-40f9-8cc5-99b0c1ff8d88	g.chrX:154563727G>T	uc004fnf.2	-	1	260	c.10C>A	c.(10-12)CTG>ATG	p.L4M	CLIC2_uc010nvj.1_Missense_Mutation_p.L4M	NM_001289	NP_001280	O15247	CLIC2_HUMAN	chloride intracellular channel 2	4	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			large_intestine(1)|ovary(1)|skin(1)	3	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)					CCGGGCCGCAGGCCTGACATC	0.413													T	154563727	G	T	154563727	3	4	274	1	0	0	0	0	1	0	0	0	3526	991	35	5	757	5	CLIC2	23	154563727	Missense_Mutation	SNP	G	TCGA-HU-A4GU-01A-11D-A25D-08	970734	154563727	706833	1759	141065											
TTLL10	254173	broad.mit.edu	37	chr1	1115547	1115547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagagcctctgccacaccCggaccccctgggctcctgaa	10	17	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1115547C>T	uc001acy.2	+	6	484	c.333C>T	c.(331-333)CCC>CCT	p.P111P	uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.P111P|TTLL10_uc001acz.1_Silent_p.P38P	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	111					protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(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;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)		CTGCCACACCCGGACCCCCTG	0.692													T	1115547	C	T	1115547	2	4	275	1	0	0	0	0	0	0	0	1	16720	639	23	1		1	TTLL10	1	1115547	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08		1115547	248135074	1	141066											
KIAA1751	85452	broad.mit.edu	37	chr1	1903447	1903447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagatgctgcccttcagcGccaccaccgcatccatgcgt	10	17	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1903447G>A	uc001aim.1	-	9	1016	c.860C>T	c.(859-861)GCG>GTG	p.A287V	KIAA1751_uc009vkz.1_Missense_Mutation_p.A287V	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	287										pancreas(1)	1	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCCTTCAGCGCCACCACCGC	0.627													A	1903447	G	A	1903447	3	1	275	1	0	0	0	0	1	0	0	0	8256	1087	38	1	1468	1	KIAA1751	1	1903447	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	787900	1903447	247347174	2	141067											
GABRD	2563	broad.mit.edu	37	chr1	1961191	1961191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtcaaggtctccaggcCgagggcagaggtgagggcct	17	10	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1961191C>T	uc001aip.2	+	8	1144	c.1049C>T	c.(1048-1050)CCG>CTG	p.P350L		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	350	Cytoplasmic (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		GTCTCCAGGCCGAGGGCAGAG	0.637													T	1961191	C	T	1961191	3	4	275	1	0	0	0	0	1	0	0	0	6169	652	23	1	1079	1	GABRD	1	1961191	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	57744	1961191	247289430	3	141068											
GABRD	2563	broad.mit.edu	37	chr1	1961598	1961598	+	Frame_Shift_Del	DEL	G	G	-													gcagcccgctcaggaggccaGgggggcatccgtgcccggct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:1961597_1961597AG>A	uc001aip.2	+	8	1330	c.1235_1235AG>A	c.(1234-1236)cagfs	p.Q412fs		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	412						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel 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)		TCAGGAGGCCAGGGGGGCATC	0.682													-	1961598	G	-	1961598	7	5	275	1	0	1	0	1	0	0	0	0	6169	991	35	0	1270	0	GABRD	1	1961598	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	407	1961598	247289023	4	141069											
PRKCZ	5590	broad.mit.edu	37	chr1	2077501	2077501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaagagcctccagtagaCgacaagaacgaggacgccga	11	13	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:2077501C>T	uc001aiq.2	+	7	749	c.588C>T	c.(586-588)GAC>GAT	p.D196D	PRKCZ_uc001air.2_Silent_p.D13D|PRKCZ_uc010nyw.1_Silent_p.D92D|PRKCZ_uc001ais.2_Silent_p.D13D|PRKCZ_uc009vla.2_Silent_p.D20D|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Silent_p.D9D	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	196					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			central_nervous_system(4)|large_intestine(2)	6	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)		CTCCAGTAGACGACAAGAACG	0.567													T	2077501	C	T	2077501	2	4	275	1	0	0	0	0	0	0	0	1	12517	535	19	1		1	PRKCZ	1	2077501	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	115903	2077501	247173120	5	141070											
NPHP4	261734	broad.mit.edu	37	chr1	5937172	5937172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacacgctcgtcccgcgcCggcccaagtctcccccggcc	9	23	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:5937172C>T	uc001alq.1	-	20	3064	c.2798G>A	c.(2797-2799)CGG>CAG	p.R933Q	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	933					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	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)		CGTCCCGCGCCGGCCCAAGTC	0.652													T	5937172	C	T	5937172	3	4	275	1	0	0	0	0	1	0	0	0	10581	652	23	1	1526	1	NPHP4	1	5937172	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3859671	5937172	243313449	6	141071											
SLC2A7	155184	broad.mit.edu	37	chr1	9067390	9067390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccaatggaatgtcccgCgatgtaggcaaagacacaga	13	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:9067390C>T	uc009vmo.1	-	10	1171	c.1171G>A	c.(1171-1173)GCG>ACG	p.A391T		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	391	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)		GAATGTCCCGCGATGTAGGCA	0.498													T	9067390	C	T	9067390	3	4	275	1	0	0	0	0	1	0	0	0	14550	768	27	1	379	1	SLC2A7	1	9067390	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3130218	9067390	240183231	7	141072											
GPR157	80045	broad.mit.edu	37	chr1	9164630	9164630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagagccgagttcggaCggcgcgggtgcagaggacga	19	8	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:9164630C>T	uc001apq.1	-	4	999	c.856G>A	c.(856-858)GTC>ATC	p.V286I	GPR157_uc010oad.1_Missense_Mutation_p.V221I	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	286	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|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;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGAGTTCGGACGGCGCGGGTG	0.622													T	9164630	C	T	9164630	3	4	275	1	0	0	0	0	1	0	0	0	6662	536	19	1	155	1	GPR157	1	9164630	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	97240	9164630	240085991	8	141073											
H6PD	9563	broad.mit.edu	37	chr1	9324704	9324704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgagcagctggtcgtgCtgaccacgagcccctcccag	13	15	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:9324704C>T	uc001apt.2	+	5	2425	c.2152C>T	c.(2152-2154)CTG>TTG	p.L718L		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	718	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	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)	GCTGGTCGTGCTGACCACGAG	0.652													T	9324704	C	T	9324704	2	4	275	1	0	0	0	0	0	0	0	1	6936	796	28	2		2	H6PD	1	9324704	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	160074	9324704	239925917	9	141074											
MTOR	2475	broad.mit.edu	37	chr1	11190747	11190747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggccccgctggcatgacGcagtttcttcttctcatcgc	10	14	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11190747G>A	uc001asd.2	-	39	5573	c.5452C>T	c.(5452-5454)CGT>TGT	p.R1818C	MTOR_uc001asc.2_Missense_Mutation_p.R23C	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1818	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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CTGGCATGACGCAGTTTCTTC	0.383													A	11190747	G	A	11190747	3	1	275	1	0	0	0	0	1	0	0	0	9954	1087	38	1	2277	1	MTOR	1	11190747	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1866043	11190747	238059874	10	141075											
MTOR	2475	broad.mit.edu	37	chr1	11204730	11204730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctcccaccagatctggCggatgatctctcgtcgctcg	10	15	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11204730C>T	uc001asd.2	-	34	4968	c.4847G>A	c.(4846-4848)CGC>CAC	p.R1616H		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1616	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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CCAGATCTGGCGGATGATCTC	0.582													T	11204730	C	T	11204730	3	4	275	1	0	0	0	0	1	0	0	0	9954	768	27	1	2902	1	MTOR	1	11204730	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	13983	11204730	238045891	11	141076											
MTOR	2475	broad.mit.edu	37	chr1	11313928	11313928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctgattcggaccagctCgttaaggatcaacaaggctc	11	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11313928C>T	uc001asd.2	-	6	929	c.808G>A	c.(808-810)GAG>AAG	p.E270K		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	270					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			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CGGACCAGCTCGTTAAGGATC	0.483													T	11313928	C	T	11313928	3	4	275	1	0	0	0	0	1	0	0	0	9954	893	31	1	7053	1	MTOR	1	11313928	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	109198	11313928	237936693	12	141077											
UBIAD1	29914	broad.mit.edu	37	chr1	11345851	11345851	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccctcagcaccgaggCcattctccattccaacaaca	5	19	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11345851C>A	uc001asg.2	+	2	1014	c.680C>A	c.(679-681)GCC>GAC	p.A227D		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	227	Helical; (Potential).				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AGCACCGAGGCCATTCTCCAT	0.617													A	11345851	C	A	11345851	3	1	275	1	0	0	0	0	1	0	0	0	16882	739	26	5	686	5	UBIAD1	1	11345851	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	31923	11345851	237904770	13	141078											
MTHFR	4524	broad.mit.edu	37	chr1	11854880	11854880	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacgtacatcttcctctcGgcgcttggggtgggcgctga	16	11	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:11854880G>A	uc001atc.1	-	7	1256	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*	MTHFR_uc001atb.1_Nonsense_Mutation_p.R381*	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	358					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	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)	TCTTCCTCTCGGCGCTTGGGG	0.607													A	11854880	G	A	11854880	4	1	275	1	0	0	0	0	0	1	0	0	9931	1124	39	1	922	1	MTHFR	1	11854880	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	509029	11854880	237395741	14	141079											
MIIP	60672	broad.mit.edu	37	chr1	12091811	12091811	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatgctgcccccgaccccGacctggtcagtgccccaggt	11	18	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:12091811G>A	uc001ato.1	+	10	1293	c.1113G>A	c.(1111-1113)CCG>CCA	p.P371P		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	371										ovary(1)	1						CCCCGACCCCGACCTGGTCAG	0.657													A	12091811	G	A	12091811	2	1	275	1	0	0	0	0	0	0	0	1	9585	1045	37	1		1	MIIP	1	12091811	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	236931	12091811	237158810	15	141080											
TMEM82	388595	broad.mit.edu	37	chr1	16073510	16073510	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggcgagctctggtgtctCgtgggcgtccgcaccctgct	15	14	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16073510C>T	uc001axc.2	+	5	1044	c.906C>T	c.(904-906)CTC>CTT	p.L302L		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	302	Helical; (Potential).|Leu-rich.					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGTGTCTCGTGGGCGTCC	0.637													T	16073510	C	T	16073510	2	4	275	1	0	0	0	0	0	0	0	1	16203	871	31	1		1	TMEM82	1	16073510	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3981699	16073510	233177111	16	141081											
HSPB7	27129	broad.mit.edu	37	chr1	16342093	16342093	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcagattttgatctccgtCcggaaggtctgctggacgtg	12	10	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16342093C>T	uc001axo.2	-	3	1322	c.495G>A	c.(493-495)CGG>CGA	p.R165R	HSPB7_uc001axp.2_Silent_p.R248R|HSPB7_uc001axq.2_Silent_p.R257R|HSPB7_uc001axr.2_Silent_p.R258R|HSPB7_uc001axs.2_Silent_p.R240R	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	165					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCTCCGTCCGGAAGGTCT	0.637													T	16342093	C	T	16342093	2	4	275	1	0	0	0	0	0	0	0	1	7422	842	30	4		4	HSPB7	1	16342093	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	268583	16342093	232908528	17	141082											
FAM131C	348487	broad.mit.edu	37	chr1	16362745	16362745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaccttggagctggacgAtgccctgggggctgttctcg	15	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16362745A>G	uc010obz.1	-	6	738	c.548T>C	c.(547-549)ATC>ACC	p.I183T	CLCNKB_uc001axw.3_Intron	NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	hypothetical protein LOC348487	183											0		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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGGACGATGCCCTGGGG	0.398													G	16362745	A	G	16362745	3	3	275	1	0	0	0	0	1	0	0	0	5441	348	12	3		3	FAM131C	1	16362745	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	20652	16362745	232887876	18	141083											
EPHA2	1969	broad.mit.edu	37	chr1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-													acactcggctctgctgcggcGgggggatgctccaggagacg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	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)	TCTGCTGCGGCGGGGGGATGC	0.662													-	16462199	G	-	16462199	7	5	275	1	0	1	0	1	0	0	0	0	5167	1116	39	0	1599	0	EPHA2	1	16462199	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	99454	16462199	232788422	19	141084											
ATP13A2	23400	broad.mit.edu	37	chr1	17332225	17332225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctattgatgtccctatcGtcagggtcccataaccggtg	10	11	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:17332225G>A	uc001baa.2	-	2	249	c.59C>T	c.(58-60)ACG>ATG	p.T20M	ATP13A2_uc001bab.2_Missense_Mutation_p.T20M|ATP13A2_uc001bac.2_Missense_Mutation_p.T20M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	20	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		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)		TGTCCCTATCGTCAGGGTCCC	0.582													A	17332225	G	A	17332225	3	1	275	1	0	0	0	0	1	0	0	0	1124	1145	40	1	3831	1	ATP13A2	1	17332225	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	870026	17332225	231918396	20	141085											
PADI2	11240	broad.mit.edu	37	chr1	17411114	17411114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacacaaacaccgacacGggaggcaggatgttgggggt	15	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:17411114G>A	uc001baf.2	-	8	1000	c.918C>T	c.(916-918)CCC>CCT	p.P306P	PADI2_uc010ocm.1_Intron|PADI2_uc001bag.1_Silent_p.P306P	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	306					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACACCGACACGGGAGGCAGGA	0.413													A	17411114	G	A	17411114	2	1	275	1	0	0	0	0	0	0	0	1	11378	1103	39	1		1	PADI2	1	17411114	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	78889	17411114	231839507	21	141086											
RCC2	55920	broad.mit.edu	37	chr1	17739612	17739614	+	In_Frame_Del	DEL	CTG	CTG	-													ccagccgcagaggtcctgcaCtgcttttgggtacatggtag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:17739612_17739614delCTG	uc001bal.2	-	9	1315_1317	c.1268_1270delCAG	c.(1267-1272)GCAGTG>GTG	p.A423del	RCC2_uc001bam.2_In_Frame_Del_p.A423del	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	423	RCC1 6.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|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;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGGTCCTGCACTGCTTTTGGGTA	0.552													-	17739614	CTG	-	17739612	7	5	275	1	0	1	0	1	0	0	0	0	13174	565	20	0	314	0	RCC2	1	17739612	In_Frame_Del	DEL	CTG	TCGA-HU-A4GX-01A-12D-A25D-08	328498	17739612	231511009	22	141087											
KIF17	57576	broad.mit.edu	37	chr1	21011475	21011475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccaggctctgctgtccgCaccacctctaaggccacttc	8	18	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:21011475C>T	uc001bdr.3	-	10	2176	c.2058G>A	c.(2056-2058)GTG>GTA	p.V686V	KIF17_uc001bdp.3_5'UTR|KIF17_uc001bdq.3_5'UTR|KIF17_uc009vpx.2_Silent_p.V56V|KIF17_uc001bds.3_Silent_p.V686V	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	686					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		CTGCTGTCCGCACCACCTCTA	0.667													T	21011475	C	T	21011475	2	4	275	1	0	0	0	0	0	0	0	1	8279	697	25	2		2	KIF17	1	21011475	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3271863	21011475	228239146	23	141088											
RAP1GAP	5909	broad.mit.edu	37	chr1	21929337	21929337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgttctcgatgccaatggCgctgctgcggcgggagccga	15	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:21929337C>T	uc001bex.2	-	19	1756	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	RAP1GAP_uc001bev.2_Missense_Mutation_p.A585T|RAP1GAP_uc001bew.2_Missense_Mutation_p.A564T|RAP1GAP_uc001bey.2_Missense_Mutation_p.A526T	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	500					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)|ovary(1)	3		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)		ATGCCAATGGCGCTGCTGCGG	0.642													T	21929337	C	T	21929337	3	4	275	1	0	0	0	0	1	0	0	0	13037	768	27	1	517	1	RAP1GAP	1	21929337	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	917862	21929337	227321284	24	141089											
HTR1D	3352	broad.mit.edu	37	chr1	23519991	23519991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtgatgaggtgggccGtggtgaagcgcttcccatag	16	9	0	3	rs138622697	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:23519991G>A	uc001bgn.2	-	1	1232	c.722C>T	c.(721-723)ACG>ATG	p.T241M		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	241	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		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)	GAGGTGGGCCGTGGTGAAGCG	0.612													A	23519991	G	A	23519991	3	1	275	1	0	0	0	0	1	0	0	0	7438	1145	40	1	415	1	HTR1D	1	23519991	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1590654	23519991	225730630	25	141090											
ASAP3	55616	broad.mit.edu	37	chr1	23782429	23782429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacggccaagtttaggaagCctgtggacagctcatggctg	13	10	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:23782429C>T	uc001bha.2	-	3	417	c.293G>A	c.(292-294)GGC>GAC	p.G98D	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Missense_Mutation_p.G98D|ASAP3_uc001bhc.1_Missense_Mutation_p.G98D	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	98					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GTTTAGGAAGCCTGTGGACAG	0.567													T	23782429	C	T	23782429	3	4	275	1	0	0	0	0	1	0	0	0	1012	739	26	2	2533	2	ASAP3	1	23782429	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	262438	23782429	225468192	26	141091											
SEPN1	57190	broad.mit.edu	37	chr1	26135266	26135266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcttctatccaccgccgCccaagggcaaggaggtgagg	13	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:26135266C>T	uc010oer.1	+	7	788	c.733C>T	c.(733-735)CCC>TCC	p.P245S	SEPN1_uc010oes.1_Missense_Mutation_p.P211S	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	245						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		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)		TCCACCGCCGCCCAAGGGCAA	0.682													T	26135266	C	T	26135266	3	4	275	1	0	0	0	0	1	0	0	0	14056	739	26	2	751	2	SEPN1	1	26135266	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2352837	26135266	223115355	27	141092											
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100177	+	Frame_Shift_Ins	INS	-	-	C													tgtattctcctagccgctacINScccccgcagcagcagcagca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27100175_27100176A>AC	uc001bmv.1	+	15	4344_4345	c.3971_3972A>AC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(2)	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)		CCTAGCCGCTACCCCCCgcagc	0.599			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								C	27100177	-	C	27100176	7	5	275	1	0	1	1	0	0	0	0	0	913	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	964910	27100176	222150445	28	141093											
ARID1A	8289	broad.mit.edu	37	chr1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-													tggacctgattctggccacaCcccccttcagccgcctggag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					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	SWI/SNF complex|nBAF complex|npBAF 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)		TTCTGGCCACACCCCCCTTCA	0.587			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106804	C	-	27106804	7	5	275	1	0	1	0	1	0	0	0	0	913	507	18	0	6493	0	ARID1A	1	27106804	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	6628	27106804	222143817	29	141094											
GPN2	54707	broad.mit.edu	37	chr1	27216284	27216284	+	Frame_Shift_Del	DEL	G	G	-													gaggaagtagtggccgcggaGggggtcgagcttggcacgca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27216283_27216283AG>A	uc001bnd.1	-	0	587	c.305_305CT>T	c.(304-306)ctcfs	p.L102fs	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	102							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GTGGCCGCGGAGGGGGTCGAG	0.662													-	27216284	G	-	27216284	7	5	275	1	0	1	0	1	0	0	0	0	6618	1000	35	0	648	0	GPN2	1	27216284	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	109480	27216284	222034337	30	141095											
FGR	2268	broad.mit.edu	37	chr1	27939528	27939528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcctccgggtccagaCgccaggtctgttccatggcc	11	17	2	1	rs141451773	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:27939528C>T	uc001boj.2	-	11	1633	c.1487G>A	c.(1486-1488)CGT>CAT	p.R496H	FGR_uc001boi.2_Missense_Mutation_p.R199H|FGR_uc001bok.2_Missense_Mutation_p.R496H|FGR_uc001bol.2_Missense_Mutation_p.R496H|FGR_uc001bom.2_Missense_Mutation_p.R496H	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	496	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		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)		CGGGTCCAGACGCCAGGTCTG	0.602													T	27939528	C	T	27939528	3	4	275	1	0	0	0	0	1	0	0	0	5874	536	19	1	106	1	FGR	1	27939528	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	723244	27939528	221311093	31	141096											
STX12	23673	broad.mit.edu	37	chr1	28128196	28128197	+	Frame_Shift_Del	DEL	AG	AG	-													ttgatttccttagcgccagcAgagacttcagaaggaacgcc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:28128195_28128196CAG>C	uc001bou.4	+	3	420_421	c.295_296CAG>C	c.(295-297)cagfs	p.Q99fs		NM_177424	NP_803173	Q86Y82	STX12_HUMAN	Homo sapiens syntaxin 12 (STX12), mRNA.	99					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)		TTAGCGCCAGCAGAGACTTCAG	0.381													-	28128197	AG	-	28128196	7	5	275	1	0	1	0	1	0	0	0	0	15337	188	7	0	310	0	STX12	1	28128196	Frame_Shift_Del	DEL	AG	TCGA-HU-A4GX-01A-12D-A25D-08	188668	28128196	221122425	32	141097											
EPB41	2035	broad.mit.edu	37	chr1	29391662	29391662	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgggcaaatccccacaGgagaaggagtgagtactttg	12	8	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:29391662G>T	uc001brm.1	+	15	2183	c.2176G>T	c.(2176-2178)GGA>TGA	p.G726*	EPB41_uc001brg.1_Nonsense_Mutation_p.G503*|EPB41_uc001brh.1_Nonsense_Mutation_p.G484*|EPB41_uc001bri.1_Nonsense_Mutation_p.G637*|EPB41_uc001brj.1_Nonsense_Mutation_p.G463*|EPB41_uc001brk.2_Nonsense_Mutation_p.G712*|EPB41_uc001brl.1_Nonsense_Mutation_p.G693*|EPB41_uc009vtl.1_Nonsense_Mutation_p.G463*|EPB41_uc009vtm.1_Nonsense_Mutation_p.G305*	NM_203342	NP_976217	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	726	Carboxyl-terminal (CTD).				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			ovary(1)	1		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)		AATCCCCACAGGAGAAGGAGT	0.423													T	29391662	G	T	29391662	4	4	275	1	0	0	0	0	0	1	0	0	5151	1001	35	5	2234	5	EPB41	1	29391662	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1263466	29391662	219858959	33	141098											
PTPRU	10076	broad.mit.edu	37	chr1	29639169	29639169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggctttcatccggcgcGtgaaggcctccaccccacct	10	17	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:29639169G>A	uc001bru.2	+	23	3318	c.3208G>A	c.(3208-3210)GTG>ATG	p.V1070M	PTPRU_uc001brv.2_Missense_Mutation_p.V1066M|PTPRU_uc001brw.2_Missense_Mutation_p.V1060M|PTPRU_uc009vtq.2_Missense_Mutation_p.V1066M|PTPRU_uc009vtr.2_Missense_Mutation_p.V1057M	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1070	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		CATCCGGCGCGTGAAGGCCTC	0.652													A	29639169	G	A	29639169	3	1	275	1	0	0	0	0	1	0	0	0	12813	1145	40	1	3320	1	PTPRU	1	29639169	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	247507	29639169	219611452	34	141099											
SPOCD1	90853	broad.mit.edu	37	chr1	32280862	32280862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttccatgttctgtaaaaGctcacagttgtgttggggac	10	9	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:32280862G>A	uc001bts.1	-	2	131	c.73C>T	c.(73-75)CTT>TTT	p.L25F	SPOCD1_uc001btu.2_Missense_Mutation_p.L25F|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	25					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCTGTAAAAGCTCACAGTTG	0.612													A	32280862	G	A	32280862	3	1	275	1	0	0	0	0	1	0	0	0	15077	971	34	2	3637	2	SPOCD1	1	32280862	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2641693	32280862	216969759	35	141100											
ZBTB8OS	339487	broad.mit.edu	37	chr1	33116139	33116139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgcgccatgactgcagGattagacactctacttccgc	8	14	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:33116139G>A	uc001bvp.2	-	1	47	c.28C>T	c.(28-30)CCT>TCT	p.P10S	ZBTB8OS_uc001bvo.1_RNA|ZBTB8OS_uc001bvq.2_5'UTR|RBBP4_uc001bvr.2_5'Flank|RBBP4_uc001bvs.2_5'Flank|RBBP4_uc010ohj.1_5'Flank|RBBP4_uc010ohk.1_5'Flank	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite	Error:Variant_position_missing_in_Q8IWT0_after_alignment											0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGACTGCAGGATTAGACACT	0.517													A	33116139	G	A	33116139	3	1	275	1	0	0	0	0	1	0	0	0	17554	1174	41	4	539	4	ZBTB8OS	1	33116139	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	835277	33116139	216134482	36	141101											
YARS	8565	broad.mit.edu	37	chr1	33245834	33245834	+	Frame_Shift_Del	DEL	C	C	-													cacagtccgtggttcagcttCccccacgtcaatcttctcta							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:33245833_33245833TC>T	uc001bvy.1	-	10	1975	c.1187_1187GA>A	c.(1186-1188)gaafs	p.E396fs	YARS_uc001bvw.1_Frame_Shift_Del_p.E56fs|YARS_uc001bvx.1_Frame_Shift_Del_p.E47fs	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	396	tRNA-binding.				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)	TGGTTCAGCTTCCCCCACGTC	0.572													-	33245834	C	-	33245834	7	5	275	1	0	1	0	1	0	0	0	0	17464	864	30	0	412	0	YARS	1	33245834	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	129695	33245834	216004787	37	141102											
ZMYM1	79830	broad.mit.edu	37	chr1	35578792	35578792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagttaaaggtaaatcacGaagtattaaaaaatcttgtt	6	3	2	0	rs7552714		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:35578792G>A	uc001bym.2	+	11	1509	c.1361G>A	c.(1360-1362)CGA>CAA	p.R454Q	ZMYM1_uc001byn.2_Missense_Mutation_p.R454Q|ZMYM1_uc010ohu.1_Missense_Mutation_p.R435Q|ZMYM1_uc001byo.2_Missense_Mutation_p.R94Q|ZMYM1_uc009vut.2_Missense_Mutation_p.R379Q	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	454	TTF-type.					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTAAATCACGAAGTATTAAA	0.303													A	35578792	G	A	35578792	3	1	275	1	0	0	0	0	1	0	0	0	17696	1058	37	1	1395	1	ZMYM1	1	35578792	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2332958	35578792	213671829	38	141103											
ZMYM4	9202	broad.mit.edu	37	chr1	35885120	35885120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttaccttcaacctgagCgctcctgtgtcccgaatagc	8	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:35885120C>T	uc001byt.2	+	30	4569	c.4489C>T	c.(4489-4491)CGC>TGC	p.R1497C	ZMYM4_uc009vuu.2_Missense_Mutation_p.R1465C|ZMYM4_uc001byu.2_Missense_Mutation_p.R1173C|ZMYM4_uc009vuv.2_Missense_Mutation_p.R1236C	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1497					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAACCTGAGCGCTCCTGTGT	0.443													T	35885120	C	T	35885120	3	4	275	1	0	0	0	0	1	0	0	0	17699	768	27	1	4607	1	ZMYM4	1	35885120	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	306328	35885120	213365501	39	141104											
THRAP3	9967	broad.mit.edu	37	chr1	36757044	36757044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catagcaacaaaaaggaacaGgagtttcgttccattttcca	7	9	0	0	rs146222773		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:36757044G>T	uc001cae.3	+	6	2039	c.1815G>T	c.(1813-1815)CAG>CAT	p.Q605H	THRAP3_uc001caf.3_Missense_Mutation_p.Q605H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	605					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			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAAGGAACAGGAGTTTCGTT	0.458			T	USP6	aneurysmal bone cysts								T	36757044	G	T	36757044	3	4	275	1	0	0	0	0	1	0	0	0	15871	991	35	5	1829	5	THRAP3	1	36757044	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	871924	36757044	212493577	40	141105											
GNL2	29889	broad.mit.edu	37	chr1	38033290	38033290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacttcttttgatgtaagcGccctgggagctttatttgaa	9	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:38033290G>A	uc001cbk.2	-	15	2190	c.2027C>T	c.(2026-2028)GCG>GTG	p.A676V		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	676					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				TGATGTAAGCGCCCTGGGAGC	0.428													A	38033290	G	A	38033290	3	1	275	1	0	0	0	0	1	0	0	0	6536	1087	38	1	176	1	GNL2	1	38033290	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1276246	38033290	211217331	41	141106											
RSPO1	284654	broad.mit.edu	37	chr1	38082196	38082196	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttgcgggcgtcgaagtaTccaggtgggcaggacggcaa	19	8	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:38082196T>C	uc001cbl.1	-	5	1034	c.246A>G	c.(244-246)GGA>GGG	p.G82G	RSPO1_uc001cbm.1_Silent_p.G82G|RSPO1_uc009vvf.1_Silent_p.G55G|RSPO1_uc009vvg.1_Silent_p.G82G	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	82	FU 1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGTCGAAGTATCCAGGTGGGC	0.617													C	38082196	T	C	38082196	2	2	275	1	0	0	0	0	0	0	0	1	13709	1422	50	3		3	RSPO1	1	38082196	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	48906	38082196	211168425	42	141107											
NDUFS5	4725	broad.mit.edu	37	chr1	39494443	39494443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcggccttaacatagatcGatggttgacaatccagagtg	11	8	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:39494443G>A	uc001ccx.2	+	2	118	c.47G>A	c.(46-48)CGA>CAA	p.R16Q	NDUFS5_uc001ccy.2_Missense_Mutation_p.R16Q	NM_004552	NP_004543	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5,	16					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				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	AACATAGATCGATGGTTGACA	0.403													A	39494443	G	A	39494443	3	1	275	1	0	0	0	0	1	0	0	0	10295	1058	37	1	49	1	NDUFS5	1	39494443	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1412247	39494443	209756178	43	141108											
MACF1	23499	broad.mit.edu	37	chr1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G													gatgaggaagatagtggcagINSggaaatttttctgtcatgca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			AGATAGTGGCAGGGAAATTTTT	0.391													G	39799061	-	G	39799060	7	5	275	1	0	1	1	0	0	0	0	0	9144	1000	35	0	6891	0	MACF1	1	39799060	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	304617	39799060	209451561	44	141109											
KCNQ4	9132	broad.mit.edu	37	chr1	41303406	41303406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcgacaaggggccctcCgacgcggaggtggtggatga	19	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:41303406C>T	uc001cgh.1	+	13	1897	c.1815C>T	c.(1813-1815)TCC>TCT	p.S605S	KCNQ4_uc001cgi.1_Silent_p.S551S	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	605	Cytoplasmic.|A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	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)			AGGGGCCCTCCGACGCGGAGG	0.637													T	41303406	C	T	41303406	2	4	275	1	0	0	0	0	0	0	0	1	8085	639	23	1		1	KCNQ4	1	41303406	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1504346	41303406	207947215	45	141110											
FOXJ3	22887	broad.mit.edu	37	chr1	42664774	42664774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacttcatcaagacttaccGgtgtataactatgcacactt	5	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:42664774G>A	uc001che.2	-	9	1070	c.758C>T	c.(757-759)CCG>CTG	p.P253L	FOXJ3_uc001chf.2_Missense_Mutation_p.P253L|FOXJ3_uc001chg.2_Missense_Mutation_p.P253L|FOXJ3_uc001chh.1_Missense_Mutation_p.P219L	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	253					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			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGACTTACCGGTGTATAACT	0.343													A	42664774	G	A	42664774	3	1	275	1	0	0	0	0	1	0	0	0	6013	1130	39	1	1138	1	FOXJ3	1	42664774	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1361368	42664774	206585847	46	141111											
SLC2A1	6513	broad.mit.edu	37	chr1	43395570	43395570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccggttctcctcgttgCggttgatgagcaggaagcgg	16	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:43395570C>T	uc001cik.2	-	5	1178	c.653G>A	c.(652-654)CGC>CAC	p.R218H		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	218	Cytoplasmic (Potential).				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			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTCCTCGTTGCGGTTGATGAG	0.652													T	43395570	C	T	43395570	3	4	275	1	0	0	0	0	1	0	0	0	14538	768	27	1	849	1	SLC2A1	1	43395570	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	730796	43395570	205855051	47	141112											
TIE1	7075	broad.mit.edu	37	chr1	43770734	43770734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcgcaccaggtcacgcttCgcggcttctccaagccctcg	10	17	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:43770734C>T	uc001ciu.2	+	2	350	c.271C>T	c.(271-273)CGC>TGC	p.R91C	TIE1_uc010okd.1_Missense_Mutation_p.R91C|TIE1_uc010oke.1_Missense_Mutation_p.R46C|TIE1_uc009vwq.2_Missense_Mutation_p.R91C|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Missense_Mutation_p.R91C|TIE1_uc010okb.1_Missense_Mutation_p.R91C|TIE1_uc010okc.1_Missense_Mutation_p.R91C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	91	Extracellular (Potential).|Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGTCACGCTTCGCGGCTTCTC	0.726													T	43770734	C	T	43770734	3	4	275	1	0	0	0	0	1	0	0	0	15890	884	31	1	277	1	TIE1	1	43770734	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	375164	43770734	205479887	48	141113											
PTPRF	5792	broad.mit.edu	37	chr1	44069129	44069129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggagaccacctactccGttactgttgctgcctatacc	7	17	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:44069129G>A	uc001cjr.2	+	15	2723	c.2383G>A	c.(2383-2385)GTT>ATT	p.V795I	PTPRF_uc001cjs.2_Missense_Mutation_p.V786I|PTPRF_uc001cju.2_Missense_Mutation_p.V366I|PTPRF_uc009vwt.2_Missense_Mutation_p.V357I|PTPRF_uc001cjv.2_Missense_Mutation_p.V255I|PTPRF_uc001cjw.2_Missense_Mutation_p.V21I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	795	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACCTACTCCGTTACTGTTGC	0.582													A	44069129	G	A	44069129	3	1	275	1	0	0	0	0	1	0	0	0	12801	1145	40	1	2433	1	PTPRF	1	44069129	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	298395	44069129	205181492	49	141114											
ERI3	79033	broad.mit.edu	37	chr1	44713629	44713629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaatgccgctgtggggccGgcctatgtgttgcaggctga	15	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:44713629G>A	uc001clt.2	-	8	1154	c.913C>T	c.(913-915)CGG>TGG	p.R305W	ERI3_uc010okv.1_Missense_Mutation_p.R128W|ERI3_uc009vxg.2_Missense_Mutation_p.R333W|ERI3_uc010okw.1_Missense_Mutation_p.R227W|ERI3_uc001clu.2_Intron	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	305	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						CTGTGGGGCCGGCCTATGTGT	0.607													A	44713629	G	A	44713629	3	1	275	1	0	0	0	0	1	0	0	0	5229	1115	39	1	108	1	ERI3	1	44713629	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	644500	44713629	204536992	50	141115											
MAST2	23139	broad.mit.edu	37	chr1	46497141	46497141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagtgacctggctgtgcGtagggcccgccaccggctgc	14	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:46497141G>A	uc001cov.2	+	24	3354	c.3071G>A	c.(3070-3072)CGT>CAT	p.R1024H	MAST2_uc001cow.2_Missense_Mutation_p.R1024H|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1024					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTGGCTGTGCGTAGGGCCCGC	0.627													A	46497141	G	A	46497141	3	1	275	1	0	0	0	0	1	0	0	0	9325	1145	40	1	3165	1	MAST2	1	46497141	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1783512	46497141	202753480	51	141116											
FOXD2	2306	broad.mit.edu	37	chr1	47905016	47905016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgcaggcggcgggggCgccggggcagggcagaggcc	25	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:47905016C>T	uc001crm.2	+	1	3328	c.1209C>T	c.(1207-1209)GGC>GGT	p.G403G		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	403	Gly-rich.|Ala-rich.				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				0				READ - Rectum adenocarcinoma(2;0.0908)		GCGGCGGGGGCGCCGGGGCAG	0.761													T	47905016	C	T	47905016	2	4	275	1	0	0	0	0	0	0	0	1	5997	755	27	1		1	FOXD2	1	47905016	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1407875	47905016	201345605	52	141117											
SLC5A9	200010	broad.mit.edu	37	chr1	48697257	48697257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacagatgctctgcagacGgtgatcatggtagggggagc	15	8	2	3	rs61730938		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:48697257G>A	uc001cro.2	+	6	703	c.651G>A	c.(649-651)ACG>ACA	p.T217T	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.T242T|SLC5A9_uc010omt.1_Silent_p.T231T|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	217	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CTCTGCAGACGGTGATCATGG	0.547													A	48697257	G	A	48697257	2	1	275	1	0	0	0	0	0	0	0	1	14672	1103	39	1		1	SLC5A9	1	48697257	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	792241	48697257	200553364	53	141118											
ELAVL4	1996	broad.mit.edu	37	chr1	50610682	50610682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccgacatccaatacaagCaatggaccctccagcaacaa	7	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:50610682C>T	uc001csb.2	+	2	331	c.63C>T	c.(61-63)AGC>AGT	p.S21S	ELAVL4_uc001cry.3_Silent_p.S24S|ELAVL4_uc001crz.3_Silent_p.S21S|ELAVL4_uc001csa.3_Silent_p.S38S|ELAVL4_uc001csc.3_Silent_p.S21S|ELAVL4_uc009vyu.2_Silent_p.S26S|ELAVL4_uc010omz.1_Silent_p.S26S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	21					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						CCAATACAAGCAATGGACCCT	0.423													T	50610682	C	T	50610682	2	4	275	1	0	0	0	0	0	0	0	1	5052	709	25	2		2	ELAVL4	1	50610682	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1913425	50610682	198639939	54	141119											
ZFYVE9	9372	broad.mit.edu	37	chr1	52704611	52704611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtaacagaagaaaaagaaAtagaggaaagcaagtcagaa	10	4	1	5			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:52704611A>C	uc001cto.2	+	4	1694	c.1522A>C	c.(1522-1524)ATA>CTA	p.I508L	ZFYVE9_uc001ctn.2_Missense_Mutation_p.I508L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.I508L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	508					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			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						AGAAAAAGAAATAGAGGAAAG	0.393													C	52704611	A	C	52704611	3	2	275	1	0	0	0	0	1	0	0	0	17668	101	4	5	1528	5	ZFYVE9	1	52704611	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2093929	52704611	196546010	55	141120											
PODN	127435	broad.mit.edu	37	chr1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-													aacaacaagctggagaagatCcccccgggggccttcagcga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					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						CTGGAGAAGATCCCCCCGGGG	0.617													-	53543377	C	-	53543377	7	5	275	1	0	1	0	1	0	0	0	0	12178	845	30	0	929	0	PODN	1	53543377	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	838766	53543377	195707244	56	141121											
MYSM1	114803	broad.mit.edu	37	chr1	59131250	59131250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagggattatttcgattAtagggactaacaatcatccc	9	7	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:59131250A>G	uc009wab.1	-	17	2108	c.2085T>C	c.(2083-2085)TAT>TAC	p.Y695Y	MYSM1_uc009waa.1_Silent_p.Y101Y|MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	695					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			skin(1)	1	all_cancers(7;9.36e-06)					TATTTCGATTATAGGGACTAA	0.333													G	59131250	A	G	59131250	2	3	275	1	0	0	0	0	0	0	0	1	10101	456	16	3		3	MYSM1	1	59131250	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	5587873	59131250	190119371	57	141122											
INADL	10207	broad.mit.edu	37	chr1	62240902	62240902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggggccatgttgaagagGttgagctcattaatgatggc	15	5	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:62240902G>A	uc001dab.2	+	7	859	c.745G>A	c.(745-747)GTT>ATT	p.V249I	INADL_uc009waf.1_Missense_Mutation_p.V249I|INADL_uc001daa.2_Missense_Mutation_p.V249I|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	249	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TGTTGAAGAGGTTGAGCTCAT	0.413													A	62240902	G	A	62240902	3	1	275	1	0	0	0	0	1	0	0	0	7731	1261	44	4	767	4	INADL	1	62240902	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3109652	62240902	187009719	58	141123											
INADL	10207	broad.mit.edu	37	chr1	62253580	62253581	+	Frame_Shift_Ins	INS	-	-	C													gctggtgacatttcagtcacINScccccctgcccctgcagcct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:62253579_62253580A>AC	uc001dab.3	+	7	1117_1118	c.1003_1004A>AC	c.(1003-1005)accfs	p.T335fs	INADL_uc009waf.1_Frame_Shift_Ins_p.T335fs|INADL_uc001daa.2_Frame_Shift_Ins_p.T335fs|INADL_uc001dad.3_Frame_Shift_Ins_p.T32fs	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	335					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						CATTTCAGTCACCCCCCCTGCC	0.505													C	62253581	-	C	62253580	7	5	275	1	0	1	1	0	0	0	0	0	7731	507	18	0	1030	0	INADL	1	62253580	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	12678	62253580	186997041	59	141124											
KANK4	163782	broad.mit.edu	37	chr1	62739457	62739457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagctttcagactccAtgctgcctagaaggttgact	9	14	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:62739457A>G	uc001dah.3	-	3	1696	c.1319T>C	c.(1318-1320)ATG>ACG	p.M440T	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	440										ovary(3)|skin(2)|lung(1)	6						TTCAGACTCCATGCTGCCTAG	0.557													G	62739457	A	G	62739457	3	3	275	1	0	0	0	0	1	0	0	0	7979	217	8	3	1700	3	KANK4	1	62739457	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	485877	62739457	186511164	60	141125											
LEPROT	54741	broad.mit.edu	37	chr1	65895721	65895721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcctgttattcttgctcGtgtggctgtggtaagtttta	10	6	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:65895721G>A	uc001dcf.2	+	3	358	c.269G>A	c.(268-270)CGT>CAT	p.R90H	LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.R99H	NM_017526	NP_059996	O15243	OBRG_HUMAN	leptin receptor gene-related protein	90						endosome membrane|Golgi membrane|integral to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTCTTGCTCGTGTGGCTGTG	0.433													A	65895721	G	A	65895721	3	1	275	1	0	0	0	0	1	0	0	0	8732	1145	40	1	279	1	LEPROT	1	65895721	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3156264	65895721	183354900	61	141126											
LRRC7	57554	broad.mit.edu	37	chr1	70504499	70504499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacattggtacatataagGtgtataacataccattagaa	7	5	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:70504499G>A	uc001dep.2	+	19	2908	c.2878G>A	c.(2878-2880)GTG>ATG	p.V960M	LRRC7_uc009wbg.2_Missense_Mutation_p.V244M|LRRC7_uc001deq.2_Missense_Mutation_p.V201M	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	960						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TACATATAAGGTGTATAACAT	0.413													A	70504499	G	A	70504499	3	1	275	1	0	0	0	0	1	0	0	0	9020	1261	44	4	2952	4	LRRC7	1	70504499	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4608778	70504499	178746122	62	141127											
IFI44L	10964	broad.mit.edu	37	chr1	79107202	79107202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcagatttggaactggAccccatgaaggatattctca	9	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:79107202A>G	uc010oro.1	+	8	1411	c.1232A>G	c.(1231-1233)GAC>GGC	p.D411G	IFI44L_uc010orp.1_Missense_Mutation_p.D148G|IFI44L_uc010orq.1_Missense_Mutation_p.D148G	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	411						cytoplasm					0						TTGGAACTGGACCCCATGAAG	0.403													G	79107202	A	G	79107202	3	3	275	1	0	0	0	0	1	0	0	0	7518	275	10	3	1258	3	IFI44L	1	79107202	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	8602703	79107202	170143419	63	141128											
TTLL7	79739	broad.mit.edu	37	chr1	84412914	84412914	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagtatattcagcaggaaaGatccaagttcgaggaacaaa	10	6	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:84412914G>A	uc001djc.2	-	6	795	c.399C>T	c.(397-399)ATC>ATT	p.I133I	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	133	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CAGCAGGAAAGATCCAAGTTC	0.338													A	84412914	G	A	84412914	2	1	275	1	0	0	0	0	0	0	0	1	16729	932	33	4		4	TTLL7	1	84412914	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5305712	84412914	164837707	64	141129											
GBP7	388646	broad.mit.edu	37	chr1	89616127	89616127	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatccagttggtcttctcGtacttcttcaacatggagta	7	10	4	0	rs138285876	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:89616127G>A	uc001dna.2	-	6	896	c.757C>T	c.(757-759)CGA>TGA	p.R253*	GBP2_uc001dmy.1_RNA	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	253						integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TGGTCTTCTCGTACTTCTTCA	0.418													A	89616127	G	A	89616127	4	1	275	1	0	0	0	0	0	1	0	0	6279	1153	40	1	1183	1	GBP7	1	89616127	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5203213	89616127	159634494	65	141130											
GBP5	115362	broad.mit.edu	37	chr1	89735134	89735134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccacaactacaggttgCgtaatggcagacaggatctc	10	11	1	1	rs150964952	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:89735134C>T	uc001dnc.2	-	3	642	c.105G>A	c.(103-105)ACG>ACA	p.T35T	GBP5_uc001dnd.2_Silent_p.T35T|GBP5_uc001dne.1_Silent_p.T35T	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	35						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTACAGGTTGCGTAATGGCAG	0.498													T	89735134	C	T	89735134	2	4	275	1	0	0	0	0	0	0	0	1	6277	755	27	1		1	GBP5	1	89735134	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	119007	89735134	159515487	66	141131											
TGFBR3	7049	broad.mit.edu	37	chr1	92224226	92224226	+	Frame_Shift_Del	DEL	G	G	-													tgtcttcagatgccacaccaGggggtgtggggagttgagca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:92224225_92224225AG>A	uc001doh.3	-	3	844	c.329_329CT>T	c.(328-330)ctgfs	p.L110fs	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Frame_Shift_Del_p.L68fs|TGFBR3_uc001doi.3_Frame_Shift_Del_p.L110fs|TGFBR3_uc001doj.3_Frame_Shift_Del_p.L110fs	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	110					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	PDZ domain binding|SMAD binding|coreceptor activity|heparin 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)		ATGCCACACCAGGGGGTGTGG	0.512													-	92224226	G	-	92224226	7	5	275	1	0	1	0	1	0	0	0	0	15820	991	35	0	2283	0	TGFBR3	1	92224226	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	2489092	92224226	157026395	67	141132											
DPYD	1806	broad.mit.edu	37	chr1	98058781	98058781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttccattttacctcctcaGggacagctcttatattaaca	6	11	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:98058781G>T	uc001drv.2	-	10	1258	c.1121C>A	c.(1120-1122)CCT>CAT	p.P374H		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	374					'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			ovary(3)|skin(3)|breast(2)	8		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)	TACCTCCTCAGGGACAGCTCT	0.408													T	98058781	G	T	98058781	3	4	275	1	0	0	0	0	1	0	0	0	4745	1000	35	5	2012	5	DPYD	1	98058781	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5834555	98058781	151191840	68	141133											
LPPR4	9890	broad.mit.edu	37	chr1	99771804	99771804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcctggcgctgtcccCggatgtaacaacagcatgcc	10	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:99771804C>T	uc001dse.2	+	7	1636	c.1530C>T	c.(1528-1530)CCC>CCT	p.P510P	LPPR4_uc010oue.1_Silent_p.P452P	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	510							phosphatidate phosphatase activity			ovary(3)	3		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)		GCGCTGTCCCCGGATGTAACA	0.552													T	99771804	C	T	99771804	2	4	275	1	0	0	0	0	0	0	0	1	8927	639	23	1		1	LPPR4	1	99771804	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1713023	99771804	149478817	69	141134											
COL11A1	1301	broad.mit.edu	37	chr1	103488461	103488461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtctatttctttgtttTcatatagtgtatcctcagaa	6	8	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:103488461T>C	uc001dul.2	-	8	1400	c.1082A>G	c.(1081-1083)GAA>GGA	p.E361G	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E373G|COL11A1_uc001dun.2_Missense_Mutation_p.E322G|COL11A1_uc009weh.2_Intron	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	361	Nonhelical 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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		TTCTTTGTTTTCATATAGTGT	0.323													C	103488461	T	C	103488461	3	2	275	1	0	0	0	0	1	0	0	0	3667	1783	62	3	4578	3	COL11A1	1	103488461	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	3716657	103488461	145762160	70	141135											
WDR47	22911	broad.mit.edu	37	chr1	109547218	109547218	+	Frame_Shift_Del	DEL	T	T	-													gtttagtaaatattacctcaTttttttcttgtttagctggt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:109547217_109547217AT>A	uc001dwl.3	-	5	1651	c.1275_1275AT>T	c.(1273-1275)aatfs	p.N425fs	WDR47_uc001dwi.3_Frame_Shift_Del_p.N418fs|WDR47_uc001dwj.3_Frame_Shift_Del_p.N417fs|WDR47_uc001dwk.2_Frame_Shift_Del_p.N389fs|WDR47_uc010ovf.2_Frame_Shift_Del_p.N344fs	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	417	Gln-rich.									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)		ATATTACCTCATTTTTTTCTT	0.353													-	109547218	T	-	109547218	7	5	275	1	0	1	0	1	0	0	0	0	17297	1493	52	0	1549	0	WDR47	1	109547218	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	6058757	109547218	139703403	71	141136											
KCNC4	3749	broad.mit.edu	37	chr1	110766118	110766118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatctactacgctgagcGcattggggccaggccctccg	12	14	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:110766118G>A	uc001dzh.2	+	2	1268	c.1211G>A	c.(1210-1212)CGC>CAC	p.R404H	KCNC4_uc001dzf.2_Missense_Mutation_p.R404H|KCNC4_uc009wfr.2_Missense_Mutation_p.R404H|KCNC4_uc001dzg.2_Missense_Mutation_p.R404H|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	404					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACGCTGAGCGCATTGGGGCC	0.587													A	110766118	G	A	110766118	3	1	275	1	0	0	0	0	1	0	0	0	8017	1087	38	1	1217	1	KCNC4	1	110766118	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1218900	110766118	138484503	72	141137											
CHI3L2	1117	broad.mit.edu	37	chr1	111773369	111773369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactctactccaggatctGcctacaaactggtttgctac	6	13	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:111773369G>A	uc001eam.2	+	3	147	c.76G>A	c.(76-78)GCC>ACC	p.A26T	CHI3L2_uc001ean.2_Missense_Mutation_p.A16T|CHI3L2_uc001eao.2_5'UTR|CHI3L2_uc009wga.2_5'UTR	NM_004000	NP_003991	Q15782	CH3L2_HUMAN	chitinase 3-like 2 isoform a	26					chitin catabolic process	extracellular space	cation binding|chitinase activity			central_nervous_system(1)	1		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TCCAGGATCTGCCTACAAACT	0.488													A	111773369	G	A	111773369	3	1	275	1	0	0	0	0	1	0	0	0	3341	1319	46	2	86	2	CHI3L2	1	111773369	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1007251	111773369	137477252	73	141138											
DENND2C	163259	broad.mit.edu	37	chr1	115130365	115130365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttttccgaagctctcgGtcctggatgaatcctgcaaa	8	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:115130365G>A	uc001efd.1	-	19	3342	c.2640C>T	c.(2638-2640)GAC>GAT	p.D880D	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.D823D	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	880	dDENN.									skin(3)	3	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)		GAAGCTCTCGGTCCTGGATGA	0.413													A	115130365	G	A	115130365	2	1	275	1	0	0	0	0	0	0	0	1	4430	1252	44	4		4	DENND2C	1	115130365	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3356996	115130365	134120256	74	141139											
CSDE1	7812	broad.mit.edu	37	chr1	115272955	115272955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctaccgtgcccagaaaaCggtgatctgaatgggaatga	11	8	2	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:115272955C>T	uc001efk.2	-	12	1746	c.1280G>A	c.(1279-1281)CGT>CAT	p.R427H	CSDE1_uc001efi.2_Missense_Mutation_p.R473H|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.R396H|CSDE1_uc001efm.2_Missense_Mutation_p.R442H|CSDE1_uc009wgv.2_Missense_Mutation_p.R427H|CSDE1_uc001efn.2_Missense_Mutation_p.R396H	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	427					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GCCCAGAAAACGGTGATCTGA	0.383													T	115272955	C	T	115272955	3	4	275	1	0	0	0	0	1	0	0	0	3929	536	19	1	1152	1	CSDE1	1	115272955	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	142590	115272955	133977666	75	141140											
NBPF7	343505	broad.mit.edu	37	chr1	120377452	120377452	+	Frame_Shift_Del	DEL	T	T	-													aacttggtttgctgttgtagTttttttcatcgagcagaaaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:120377451_120377451GT>G	uc010oxk.2	-	7	1824	c.1203_1203AC>C	c.(1201-1203)aacfs	p.N401fs		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	401						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		TGCTGTTGTAGTTTTTTTCAT	0.388													-	120377452	T	-	120377452	7	5	275	1	0	1	0	1	0	0	0	0	10198	1725	60	0	66	0	NBPF7	1	120377452	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	5104497	120377452	128873169	76	141141											
SEC22B	9554	broad.mit.edu	37	chr1	145109530	145109530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtctcaccagctacatTattgagcagggggtgtgtga	12	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:145109530T>C	uc001eml.1	+	5	332	c.192T>C	c.(190-192)ATT>ATC	p.I64I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	64	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						CCAGCTACATTATTGAGCAGG	0.388													C	145109530	T	C	145109530	2	2	275	1	0	0	0	0	0	0	0	1	13989	1742	61	3		3	SEC22B	1	145109530	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	24732078	145109530	104141091	77	141142											
ANKRD35	148741	broad.mit.edu	37	chr1	145560110	145560110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtgagaaaggcagtgCcgaggtggctgaactgctcc	16	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:145560110C>T	uc001eob.1	+	8	704	c.596C>T	c.(595-597)GCC>GTC	p.A199V	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A42V	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	199	ANK 5.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGGCAGTGCCGAGGTGGCT	0.567													T	145560110	C	T	145560110	3	4	275	1	0	0	0	0	1	0	0	0	664	739	26	2	626	2	ANKRD35	1	145560110	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	450580	145560110	103690511	78	141143											
POLR3C	10623	broad.mit.edu	37	chr1	145608468	145608468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacattgtcagtttgccGttcaacagaagctcctcaac	8	12	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:145608468G>A	uc001eoh.2	-	3	500	c.339C>T	c.(337-339)AAC>AAT	p.N113N	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Silent_p.N126N|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.N113N	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	113					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCAGTTTGCCGTTCAACAGAA	0.468													A	145608468	G	A	145608468	2	1	275	1	0	0	0	0	0	0	0	1	12230	1136	40	1		1	POLR3C	1	145608468	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	48358	145608468	103642153	79	141144											
GJA5	2702	broad.mit.edu	37	chr1	147230449	147230449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctgacctcgtacttGctcggtgaccaggttgtctg	11	13	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:147230449G>A	uc001eps.1	-	2	1039	c.898C>T	c.(898-900)CAA>TAA	p.Q300*	GJA5_uc001ept.1_Nonsense_Mutation_p.Q300*	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	300	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCTCGTACTTGCTCGGTGACC	0.527													A	147230449	G	A	147230449	4	1	275	1	0	0	0	0	0	1	0	0	6404	1328	46	2	182	2	GJA5	1	147230449	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1621981	147230449	102020172	80	141145											
SV2A	9900	broad.mit.edu	37	chr1	149882203	149882203	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaaggcgcagacgaggacGaagaccctccagctgtggaa	15	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:149882203G>A	uc001etg.2	-	5	1499	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	SV2A_uc001eth.2_Silent_p.F336F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	336	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	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)	AGACGAGGACGAAGACCCTCC	0.587													A	149882203	G	A	149882203	2	1	275	1	0	0	0	0	0	0	0	1	15414	1049	37	1		1	SV2A	1	149882203	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2651754	149882203	99368418	81	141146											
SF3B4	10262	broad.mit.edu	37	chr1	149898716	149898716	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtgagctgatgctttgttCacccgtattggcttcccata	9	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:149898716C>T	uc001etj.1	-	3	309	c.258G>A	c.(256-258)GTG>GTA	p.V86V	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.V86V|SF3B4_uc009wll.1_Silent_p.V86V	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	86	RRM 1.					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|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)			ATGCTTTGTTCACCCGTATTG	0.428													T	149898716	C	T	149898716	2	4	275	1	0	0	0	0	0	0	0	1	14153	813	29	4		4	SF3B4	1	149898716	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	16513	149898716	99351905	82	141147											
RPRD2	23248	broad.mit.edu	37	chr1	150445109	150445109	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatggtggtatcttctctCgagatgcacccactcatcta	7	12	5	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:150445109C>T	uc009wlr.2	+	11	3886	c.3685C>T	c.(3685-3687)CGA>TGA	p.R1229*	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Nonsense_Mutation_p.R1203*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1229	Pro-rich.						protein binding			ovary(1)	1						TATCTTCTCTCGAGATGCACC	0.597													T	150445109	C	T	150445109	4	4	275	1	0	0	0	0	0	1	0	0	13617	876	31	1	3727	1	RPRD2	1	150445109	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	546393	150445109	98805512	83	141148											
HRNR	388697	broad.mit.edu	37	chr1	152191461	152191461	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagatccagagccatgtcGgccgcggcccgaagcgtgat	14	14	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:152191461G>A	uc001ezt.1	-	3	2720	c.2644C>T	c.(2644-2646)CGA>TGA	p.R882*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	882	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCATGTCGGCCGCGGCCC	0.632													A	152191461	G	A	152191461	4	1	275	1	0	0	0	0	0	1	0	0	7359	1124	39	1	5912	1	HRNR	1	152191461	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1746352	152191461	97059160	84	141149											
FLG	2312	broad.mit.edu	37	chr1	152286867	152286867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctctatgagtaggTgaatatccttttctttcttt	5	8	5	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:152286867T>C	uc001ezu.1	-	3	531	c.495A>G	c.(493-495)TCA>TCG	p.S165S	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	165					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGAGTAGGTGAATATCCTT	0.343									Ichthyosis				C	152286867	T	C	152286867	2	2	275	1	0	0	0	0	0	0	0	1	5922	1683	59	3		3	FLG	1	152286867	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	95406	152286867	96963754	85	141150											
C1orf43	25912	broad.mit.edu	37	chr1	154185102	154185102	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatgaaatgggatctcTgtggagaaaacagcacaatg	11	6	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:154185102T>G	uc001fei.2	-	5	731	c.341_splice	c.e5-1	p.E114_splice	C1orf43_uc001fef.1_Splice_Site_p.E11_splice|C1orf43_uc001feg.2_Splice_Site_p.E80_splice|C1orf43_uc001feh.2_Splice_Site_p.K62_splice|C1orf43_uc001fej.2_Splice_Site_p.K96_splice|C1orf43_uc009wos.1_Splice_Site_p.K96_splice|C1orf43_uc001fek.2_Splice_Site_p.E114_splice|C1orf43_uc001fel.2_Splice_Site_p.E80_splice	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3							integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					ATGGGATCTCTGTGGAGAAAA	0.333													G	154185102	T	G	154185102	5	3	275	1	0	0	0	0	0	0	1	0	2040	1594	55	5	434	5	C1orf43	1	154185102	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1898235	154185102	95065519	86	141151											
ATP8B2	57198	broad.mit.edu	37	chr1	154316910	154316910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattcctgcaagatgctgaCggatgacatgactgaggttt	11	8	0	5			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:154316910C>T	uc001fex.2	+	20	2174	c.2174C>T	c.(2173-2175)ACG>ATG	p.T725M		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	711	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGATGCTGACGGATGACATG	0.562													T	154316910	C	T	154316910	3	4	275	1	0	0	0	0	1	0	0	0	1195	536	19	1	2382	1	ATP8B2	1	154316910	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	131808	154316910	94933711	87	141152											
RUSC1	23623	broad.mit.edu	37	chr1	155291869	155291869	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctccctcagacccaggctGctcctcctcactcagctcct	5	21	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:155291869G>C	uc001fkj.2	+	2	534	c.305G>C	c.(304-306)TGC>TCC	p.C102S	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.C102S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	102						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	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)			GACCCAGGCTGCTCCTCCTCA	0.647													C	155291869	G	C	155291869	3	2	275	1	0	0	0	0	1	0	0	0	13750	1319	46	5	307	5	RUSC1	1	155291869	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	974959	155291869	93958752	88	141153											
GON4L	54856	broad.mit.edu	37	chr1	155735826	155735826	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagtggtagcaggaacAgtgaagataacagatgcagg	13	6	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:155735826A>C	uc001flz.2	-	21	3535	c.3438T>G	c.(3436-3438)ACT>ACG	p.T1146T	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.T1146T|GON4L_uc009wrh.1_Silent_p.T1146T|GON4L_uc001fma.1_Silent_p.T1146T|GON4L_uc001fmb.3_Silent_p.T342T|GON4L_uc001fmc.2_Silent_p.T1146T|GON4L_uc001fmd.3_Silent_p.T1146T|GON4L_uc009wri.2_Silent_p.T732T	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1146					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAGCAGGAACAGTGAAGATAA	0.532													C	155735826	A	C	155735826	2	2	275	1	0	0	0	0	0	0	0	1	6572	175	7	5		5	GON4L	1	155735826	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	443957	155735826	93514795	89	141154											
IQGAP3	128239	broad.mit.edu	37	chr1	156496285	156496285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgcctctgtcacttcCgcaaaaacttcttgttgagg	7	13	3	1	rs140982853	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:156496285C>T	uc001fpf.2	-	38	4964	c.4889G>A	c.(4888-4890)CGG>CAG	p.R1630Q		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1630					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTCACTTCCGCAAAAACTT	0.488													T	156496285	C	T	156496285	3	4	275	1	0	0	0	0	1	0	0	0	7816	652	23	1	10	1	IQGAP3	1	156496285	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	760459	156496285	92754336	90	141155											
ISG20L2	81875	broad.mit.edu	37	chr1	156694023	156694024	+	Frame_Shift_Ins	INS	-	-	G													cagtcagccttccggttgagINSgggggggatatgggaggtgt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:156694022_156694023A>AG	uc001fps.1	-	1	1126_1127	c.865_866T>CT	c.(865-867)ctcfs	p.L289fs	ISG20L2_uc001fpt.1_Frame_Shift_Ins_p.L289fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													G	156694024	-	G	156694023	7	5	275	1	0	1	1	0	0	0	0	0	7855	1000	35	0	204	0	ISG20L2	1	156694023	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	197738	156694023	92556598	91	141156											
C1orf66	51093	broad.mit.edu	37	chr1	156704174	156704174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagctggccctggccttcGaactcactgctaccgtgcag	11	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:156704174G>A	uc001fpu.2	+	6	1644	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	C1orf66_uc001fpv.2_Intron	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	337						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGGCCTTCGAACTCACTGC	0.667													A	156704174	G	A	156704174	3	1	275	1	0	0	0	0	1	0	0	0	2056	1058	37	1	1032	1	C1orf66	1	156704174	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	10151	156704174	92546447	92	141157											
SPTA1	6708	broad.mit.edu	37	chr1	158581121	158581121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagatggcttcgaccccgtGggtccatatattgctgcata	11	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:158581121G>T	uc001fst.1	-	52	7392	c.7193C>A	c.(7192-7194)CCA>CAA	p.P2398Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2398					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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGACCCCGTGGGTCCATATA	0.438													T	158581121	G	T	158581121	3	4	275	1	0	0	0	0	1	0	0	0	15115	1348	47	5	70	5	SPTA1	1	158581121	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1876947	158581121	90669500	93	141158											
PIGM	93183	broad.mit.edu	37	chr1	160000853	160000853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctacaaacagcagcacaGcccgattacacagccttttc	6	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160000853G>T	uc001fuv.1	-	1	931	c.677C>A	c.(676-678)GCT>GAT	p.A226D		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	226	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCAGCACAGCCCGATTACA	0.478													T	160000853	G	T	160000853	3	4	275	1	0	0	0	0	1	0	0	0	11892	971	34	5	598	5	PIGM	1	160000853	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1419732	160000853	89249768	94	141159											
NCSTN	23385	broad.mit.edu	37	chr1	160326878	160326878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcattctaatgagacGgaccgactcccccggtgtgt	10	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160326878G>A	uc001fvx.2	+	16	1966	c.1842G>A	c.(1840-1842)ACG>ACA	p.T614T	NCSTN_uc001fvy.2_Silent_p.T594T|NCSTN_uc010pjf.1_Silent_p.T476T|NCSTN_uc001fvz.2_Silent_p.T394T|NCSTN_uc010pjg.1_Silent_p.T356T	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	614	Extracellular (Potential).				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			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTAATGAGACGGACCGACTCC	0.537													A	160326878	G	A	160326878	2	1	275	1	0	0	0	0	0	0	0	1	10241	1103	39	1		1	NCSTN	1	160326878	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	326025	160326878	88923743	95	141160											
VANGL2	57216	broad.mit.edu	37	chr1	160388802	160388802	+	Frame_Shift_Del	DEL	G	G	-													ctgcctgtaggatgacaactGgggggaaacgacgacagtag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160388801_160388801TG>T	uc001fwb.2	+	4	501	c.202_202TG>T	c.(202-204)tggfs	p.W68fs	VANGL2_uc001fwc.2_Frame_Shift_Del_p.W68fs	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	68					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.E70fs*17(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)			GGATGACAACTGGGGGGAAAC	0.552													-	160388802	G	-	160388802	7	5	275	1	0	1	0	1	0	0	0	0	17117	1357	47	0	213	0	VANGL2	1	160388802	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	61924	160388802	88861819	96	141161											
ITLN2	142683	broad.mit.edu	37	chr1	160914969	160914969	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagccgcctccgttatctcCcgactgcagctgctcttaac	7	17	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:160914969C>A	uc001fxd.2	-	8	997	c.939G>T	c.(937-939)CGG>CGT	p.R313R	ITLN2_uc009wts.2_Silent_p.R312R|ITLN2_uc010pju.1_Silent_p.R230R	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	313					signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCGTTATCTCCCGACTGCAGC	0.562													A	160914969	C	A	160914969	2	1	275	1	0	0	0	0	0	0	0	1	7911	610	22	5		5	ITLN2	1	160914969	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	526167	160914969	88335652	97	141162											
PVRL4	81607	broad.mit.edu	37	chr1	161046146	161046146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggctcgggcccttaccGtgtccagttgtatgagggag	14	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:161046146G>A	uc001fxo.2	-	4	1149	c.850C>T	c.(850-852)CGG>TGG	p.R284W	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Missense_Mutation_p.R18W	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	284	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCCCTTACCGTGTCCAGTTG	0.547													A	161046146	G	A	161046146	3	1	275	1	0	0	0	0	1	0	0	0	12842	1159	40	1	706	1	PVRL4	1	161046146	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	131177	161046146	88204475	98	141163											
C1orf111	284680	broad.mit.edu	37	chr1	162344317	162344317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctctttgtctgcacacaCgaagtagctgtagggggaga	13	9	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:162344317C>T	uc001gbx.2	-	3	371	c.307G>A	c.(307-309)GTG>ATG	p.V103M		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	103										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TCTGCACACACGAAGTAGCTG	0.572													T	162344317	C	T	162344317	3	4	275	1	0	0	0	0	1	0	0	0	1984	536	19	1	482	1	C1orf111	1	162344317	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1298171	162344317	86906304	99	141164											
SLC19A2	10560	broad.mit.edu	37	chr1	169446809	169446809	+	Frame_Shift_Del	DEL	A	A	-													agtggctgtggcgatgccatAaaaaaattctagaaattgaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:169446808_169446808TA>T	uc001gge.4	-	1	596	c.392_392TA>A	c.(391-393)tatfs	p.Y131fs	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	131					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			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GGCGATGCCATAAAAAAATTC	0.453													-	169446809	A	-	169446809	7	5	275	1	0	1	0	1	0	0	0	0	14429	362	13	0	1122	0	SLC19A2	1	169446809	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	7102492	169446809	79803812	100	141165											
PAPPA2	60676	broad.mit.edu	37	chr1	176762740	176762740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatcccccccagtgaccccGtgatgctacctgagaatatc	7	15	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:176762740G>A	uc001gkz.2	+	20	6229	c.5065G>A	c.(5065-5067)GTG>ATG	p.V1689M	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1689	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CAGTGACCCCGTGATGCTACC	0.473													A	176762740	G	A	176762740	3	1	275	1	0	0	0	0	1	0	0	0	11433	1145	40	1	5192	1	PAPPA2	1	176762740	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	7315931	176762740	72487881	101	141166											
ASTN1	460	broad.mit.edu	37	chr1	176926901	176926901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgctgcagtcgcgcacCggcccaaaggaatctaagag	11	12	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:176926901C>T	uc001glc.2	-	11	2012	c.1800G>A	c.(1798-1800)CCG>CCA	p.P600P	ASTN1_uc001glb.1_Silent_p.P600P|ASTN1_uc001gld.1_Silent_p.P600P|ASTN1_uc009wwx.1_Silent_p.P600P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	608	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGTCGCGCACCGGCCCAAAGG	0.547													T	176926901	C	T	176926901	2	4	275	1	0	0	0	0	0	0	0	1	1064	639	23	1		1	ASTN1	1	176926901	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	164161	176926901	72323720	102	141167											
RALGPS2	55103	broad.mit.edu	37	chr1	178777241	178777241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaccaaatgcagttgCcttcacaagaagattcaatc	6	11	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:178777241C>T	uc001glz.2	+	5	613	c.275C>T	c.(274-276)GCC>GTC	p.A92V	RALGPS2_uc001gly.1_Missense_Mutation_p.A92V|RALGPS2_uc010pnb.1_Missense_Mutation_p.A92V	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	92	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						AATGCAGTTGCCTTCACAAGA	0.289													T	178777241	C	T	178777241	3	4	275	1	0	0	0	0	1	0	0	0	13018	739	26	2	289	2	RALGPS2	1	178777241	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1850340	178777241	70473380	103	141168											
CEP350	9857	broad.mit.edu	37	chr1	179983022	179983022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatctgatcccaggttggaCgttttacatagacatcttca	8	9	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:179983022C>T	uc001gnt.2	+	10	1817	c.1434C>T	c.(1432-1434)GAC>GAT	p.D478D	CEP350_uc009wxl.2_Silent_p.D477D|CEP350_uc001gnu.2_Silent_p.D312D	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	478						centrosome|nucleus|spindle				ovary(4)	4						CCAGGTTGGACGTTTTACATA	0.363													T	179983022	C	T	179983022	2	4	275	1	0	0	0	0	0	0	0	1	3254	535	19	1		1	CEP350	1	179983022	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1205781	179983022	69267599	104	141169											
LHX4	89884	broad.mit.edu	37	chr1	180235529	180235529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgctgccctgacaggcGcttcggcacaaaatgcacgg	11	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:180235529G>A	uc001goe.1	+	3	474	c.251G>A	c.(250-252)CGC>CAC	p.R84H		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	84	LIM zinc-binding 1.		R -> C (in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CCTGACAGGCGCTTCGGCACA	0.622													A	180235529	G	A	180235529	3	1	275	1	0	0	0	0	1	0	0	0	8773	1087	38	1	261	1	LHX4	1	180235529	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	252507	180235529	69015092	105	141170											
CACNA1E	777	broad.mit.edu	37	chr1	181727237	181727239	+	In_Frame_Del	DEL	TGA	TGA	-													cgccttgaatactgttgtgcTgatgatgaaggtgagaggag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:181727236_181727238CTGA>C	uc009wxt.3	+	30	4678_4680	c.4483_4485CTGA>C	c.(4483-4485)ctg>C	p.L1495del	CACNA1E_uc001gow.3_In_Frame_Del_p.L1495del|CACNA1E_uc009wxs.3_In_Frame_Del_p.L1476del|CACNA1E_uc001gox.1_In_Frame_Del_p.L721del	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1495					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						TACTGTTGTGCTGATGATGAAGG	0.557													-	181727239	TGA	-	181727237	7	5	275	1	0	1	0	1	0	0	0	0	2542	1580	55	0	4606	0	CACNA1E	1	181727237	In_Frame_Del	DEL	TGA	TCGA-HU-A4GX-01A-12D-A25D-08	1491708	181727237	67523384	106	141171											
CFHR1	3078	broad.mit.edu	37	chr1	196801077	196801077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacgttctcacacattgcGaacaacatgttgggatggga	10	9	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:196801077G>A	uc001gtn.2	+	6	1055	c.941G>A	c.(940-942)CGA>CAA	p.R314Q	CFHR1_uc001gtm.2_Missense_Mutation_p.R218Q	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	314	Sushi 5.				complement activation	extracellular space					0						CACACATTGCGAACAACATGT	0.383													A	196801077	G	A	196801077	3	1	275	1	0	0	0	0	1	0	0	0	3284	1058	37	1	963	1	CFHR1	1	196801077	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	15073840	196801077	52449544	107	141172											
ASPM	259266	broad.mit.edu	37	chr1	197072396	197072396	+	Frame_Shift_Del	DEL	T	T	-													ttttgaatcagaagagcagcTtttttcatgattttccactt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:197072395_197072395CT>C	uc001gtu.3	-	17	6243	c.5986_5986AG>G	c.(5986-5988)gctfs	p.A1996fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1996	IQ 13.				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						AGAAGAGCAGCTTTTTTCATG	0.338													-	197072396	T	-	197072396	7	5	275	1	0	1	0	1	0	0	0	0	1056	1606	56	0	4492	0	ASPM	1	197072396	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	271319	197072396	52178225	108	141173											
NEK7	140609	broad.mit.edu	37	chr1	198222298	198222299	+	Frame_Shift_Ins	INS	-	-	A													atggagtaccagtagctttaINSaaaaaagtgcaggtaagatg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:198222297_198222298T>TA	uc001gun.4	+	2	512_513	c.185_186T>TA	c.(184-186)ttafs	p.L62fs	NEK7_uc021pgx.1_Frame_Shift_Ins_p.L62fs	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V65fs*5(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCAGTAGCTTTAAAAAAAGTGC	0.317													A	198222299	-	A	198222298	7	5	275	1	0	1	1	0	0	0	0	0	10329	359	13	0	192	0	NEK7	1	198222298	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1149902	198222298	51028323	109	141174											
FAM58B	339521	broad.mit.edu	37	chr1	200182790	200182790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccagggtgcacttccgCgtggcgaggttcatcatgga	15	11	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:200182790C>T	uc009wzi.1	+	1	135	c.99C>T	c.(97-99)CGC>CGT	p.R33R		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	33					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					TGCACTTCCGCGTGGCGAGGT	0.433													T	200182790	C	T	200182790	2	4	275	1	0	0	0	0	0	0	0	1	5591	755	27	1		1	FAM58B	1	200182790	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1960492	200182790	49067831	110	141175											
CACNA1S	779	broad.mit.edu	37	chr1	201043736	201043736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaatggccaggaagacaTtgagcaggatgtctgagcgg	16	8	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:201043736T>C	uc001gvv.2	-	14	2188	c.1961A>G	c.(1960-1962)AAT>AGT	p.N654S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	654	Helical; Name=S6 of repeat II; (Potential).|II.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGGAAGACATTGAGCAGGAT	0.582													C	201043736	T	C	201043736	3	2	275	1	0	0	0	0	1	0	0	0	2547	1493	52	3	3784	3	CACNA1S	1	201043736	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	860946	201043736	48206885	111	141176											
NAV1	89796	broad.mit.edu	37	chr1	201757711	201757711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaccctgtccctggcCgagagacccaagggaatgat	14	12	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:201757711C>T	uc001gwu.2	+	10	3458	c.3111C>T	c.(3109-3111)GCC>GCT	p.A1037A	NAV1_uc001gwv.1_Silent_p.A545A|NAV1_uc001gww.1_Silent_p.A646A|NAV1_uc001gwx.2_Silent_p.A646A|NAV1_uc001gwy.1_Silent_p.A418A	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1037					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						TGTCCCTGGCCGAGAGACCCA	0.617													T	201757711	C	T	201757711	2	4	275	1	0	0	0	0	0	0	0	1	10183	639	23	1		1	NAV1	1	201757711	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	713975	201757711	47492910	112	141177											
LMOD1	25802	broad.mit.edu	37	chr1	201869808	201869809	+	Frame_Shift_Ins	INS	-	-	T													cccgtctggggcccagggctINStttttgctggcatctctgcc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:201869807_201869808C>CT	uc021phl.1	-	1	581_582	c.333_334G>AG	c.(331-336)aaagccfs	p.K111fs	LMOD1_uc021phm.1_Frame_Shift_Ins_p.K111fs|LMOD1_uc010ppu.2_Intron	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	111					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						GGGCCCAGGGCTTTTTTGCTGG	0.48													T	201869809	-	T	201869808	7	5	275	1	0	1	1	0	0	0	0	0	8856	1606	56	0	1477	0	LMOD1	1	201869808	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	112097	201869808	47380813	113	141178											
KDM5B	10765	broad.mit.edu	37	chr1	202704625	202704625	+	Frame_Shift_Del	DEL	T	T	-													cagactctctaatttggtgcTttttttctttccatttggca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:202704624_202704624CT>C	uc009xag.3	-	22	3580	c.3464_3464AG>G	c.(3463-3465)agcfs	p.S1155fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.S1119fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.S961fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1119					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						TAATTTGGTGCTTTTTTTCTT	0.423													-	202704625	T	-	202704625	7	5	275	1	0	1	0	1	0	0	0	0	8134	1609	56	0	1303	0	KDM5B	1	202704625	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	834817	202704625	46545996	114	141179											
ADIPOR1	51094	broad.mit.edu	37	chr1	202920166	202920166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggagccccattcccCtgtgccaccacagatccttt	8	17	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:202920166C>A	uc001gyq.3	-	2	300	c.33G>T	c.(31-33)CAG>CAT	p.Q11H	ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_Translation_Start_Site|ADIPOR1_uc001gys.3_Missense_Mutation_p.Q11H	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	11	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCCCATTCCCCTGTGCCACCA	0.587													A	202920166	C	A	202920166	3	1	275	1	0	0	0	0	1	0	0	0	318	680	24	5	1122	5	ADIPOR1	1	202920166	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	215541	202920166	46330455	115	141180											
PPFIA4	8497	broad.mit.edu	37	chr1	203008205	203008205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcatggcgccgatgctgaCgccaacttcgagcagctgat	11	14	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:203008205C>T	uc009xaj.2	+	6	510	c.510C>T	c.(508-510)GAC>GAT	p.D170D				O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CCGATGCTGACGCCAACTTCG	0.622											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	203008205	C	T	203008205	2	4	275	1	0	0	0	0	0	0	0	1	12312	551	19	1		1	PPFIA4	1	203008205	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	88039	203008205	46242416	116	141181											
CNTN2	6900	broad.mit.edu	37	chr1	205031679	205031679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtaccatctacgccagcGccgagctagccgtgcaaggt	12	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:205031679G>A	uc001hbr.2	+	10	1491	c.1222G>A	c.(1222-1224)GCC>ACC	p.A408T	CNTN2_uc001hbq.1_Missense_Mutation_p.A299T|CNTN2_uc001hbs.2_Missense_Mutation_p.A196T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	408	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	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)			CTACGCCAGCGCCGAGCTAGC	0.577													A	205031679	G	A	205031679	3	1	275	1	0	0	0	0	1	0	0	0	3641	1087	38	1	1256	1	CNTN2	1	205031679	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2023474	205031679	44218942	117	141182											
KLHDC8A	55220	broad.mit.edu	37	chr1	205308421	205308421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtacaagtggttgtccaGggtcacaaagctggagaagg	15	7	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:205308421G>T	uc001hcf.1	-	4	1226	c.658C>A	c.(658-660)CTG>ATG	p.L220M	KLHDC8A_uc010prg.1_Missense_Mutation_p.L107M|KLHDC8A_uc001hcg.1_Missense_Mutation_p.L220M	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	220	Kelch 5.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGTTGTCCAGGGTCACAAAG	0.577													T	205308421	G	T	205308421	3	4	275	1	0	0	0	0	1	0	0	0	8362	991	35	5	406	5	KLHDC8A	1	205308421	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	276742	205308421	43942200	118	141183											
IKBKE	9641	broad.mit.edu	37	chr1	206647728	206647728	+	Frame_Shift_Del	DEL	C	C	-													acactaccagctacctgcggCcccgcgaggtgcaagtgagg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:206647727_206647727GC>G	uc001hdz.2	+	3	719	c.141_141GC>G	c.(139-141)cggfs	p.R47fs	IKBKE_uc009xbu.2_Frame_Shift_Del_p.R47fs|IKBKE_uc001hea.2_5'UTR|IKBKE_uc009xbv.2_Frame_Shift_Del_p.R47fs	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	47	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	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)					GCTACCTGCGGCCCCGCGAGG	0.577													-	206647728	C	-	206647728	7	5	275	1	0	1	0	1	0	0	0	0	7612	739	26	0	148	0	IKBKE	1	206647728	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	1339307	206647728	42602893	119	141184											
C4BPA	722	broad.mit.edu	37	chr1	207287497	207287497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccccgatggatattacGttgactgagacacgcttcaa	10	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207287497G>A	uc001hfo.2	+	3	389	c.195G>A	c.(193-195)ACG>ACA	p.T65T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	65	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TGGATATTACGTTGACTGAGA	0.473													A	207287497	G	A	207287497	2	1	275	1	0	0	0	0	0	0	0	1	2249	1132	40	1		1	C4BPA	1	207287497	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	639769	207287497	41963124	120	141185											
CR2	1380	broad.mit.edu	37	chr1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-													tcgggaaaatggagtgctgtCccccccacatgtgaaggtac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				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						TGGAGTGCTGTCCCCCCCACA	0.393													-	207642044	C	-	207642044	7	5	275	1	0	1	0	1	0	0	0	0	3842	842	30	0	628	0	CR2	1	207642044	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	354547	207642044	41608577	121	141186											
CR2	1380	broad.mit.edu	37	chr1	207643042	207643042	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcaattcccctagaaAttttttgcccatcacctccc	3	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207643042A>T	uc001hfw.2	+	6	914	c.820A>T	c.(820-822)ATT>TTT	p.I274F	CR2_uc001hfv.2_Missense_Mutation_p.I274F|CR2_uc009xch.2_Missense_Mutation_p.I274F|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	274	Sushi 5.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						TCCCCTAGAAATTTTTTGCCC	0.413													T	207643042	A	T	207643042	3	4	275	1	0	0	0	0	1	0	0	0	3842	101	4	5	842	5	CR2	1	207643042	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	998	207643042	41607579	122	141187											
CR1	1378	broad.mit.edu	37	chr1	207700196	207700196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctacagctgtgagcccGgctacgacctcagaggggct	13	12	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:207700196G>A	uc001hfy.2	+	6	1125	c.985G>A	c.(985-987)GGC>AGC	p.G329S	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.G329S|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.G329S|CR1_uc010psh.1_5'Flank	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	329	Sushi 5.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CTGTGAGCCCGGCTACGACCT	0.577													A	207700196	G	A	207700196	3	1	275	1	0	0	0	0	1	0	0	0	3840	1116	39	1	1007	1	CR1	1	207700196	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	57154	207700196	41550425	123	141188											
KCNH1	3756	broad.mit.edu	37	chr1	210857113	210857113	+	Frame_Shift_Del	DEL	C	C	-													gcttggcacaatcgcccccgCcccccttggggcccaggcac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:210857112_210857112GC>G	uc001hib.2	-	10	2651	c.2481_2481GC>C	c.(2479-2481)ggcfs	p.G827fs	KCNH1_uc001hic.2_Frame_Shift_Del_p.G800fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	827					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)		AATCGCCCCCGCCCCCCTTGG	0.647													-	210857113	C	-	210857113	7	5	275	1	0	1	0	1	0	0	0	0	8031	739	26	0	493	0	KCNH1	1	210857113	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	3156917	210857113	38393508	124	141189											
PTPN14	5784	broad.mit.edu	37	chr1	214556665	214556666	+	Frame_Shift_Del	DEL	TC	TC	-													gacactcaccctgatcatcaTctctctctctataatgctgt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:214556664_214556665ATC>A	uc001hkk.2	-	12	3186_3187	c.2533_2534GAT>T	c.(2533-2535)atgfs	p.M845fs	PTPN14_uc021piy.1_Frame_Shift_Del_p.M609fs|PTPN14_uc010pty.2_Frame_Shift_Del_p.M746fs	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	845					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)		CCTGATCATCATCTCTCTCTCT	0.515													-	214556666	TC	-	214556665	7	5	275	1	0	1	0	1	0	0	0	0	12783	1435	50	0	1058	0	PTPN14	1	214556665	Frame_Shift_Del	DEL	TC	TCGA-HU-A4GX-01A-12D-A25D-08	3699552	214556665	34693956	125	141190											
PTPN14	5784	broad.mit.edu	37	chr1	214557469	214557469	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtctggggtgctggTggcaggtcgtggccgtgggt	22	8	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:214557469T>C	uc001hkk.1	-	13	2000	c.1729A>G	c.(1729-1731)ACC>GCC	p.T577A	PTPN14_uc010pty.1_Missense_Mutation_p.T478A	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	577					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGGTGCTGGTGGCAGGTCGT	0.637													C	214557469	T	C	214557469	3	2	275	1	0	0	0	0	1	0	0	0	12783	1696	59	3	1862	3	PTPN14	1	214557469	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	804	214557469	34693152	126	141191											
EPRS	2058	broad.mit.edu	37	chr1	220191840	220191840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccatgttcacgactgaaCgtgaggagccctaaaaaaca	8	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:220191840C>T	uc001hly.1	-	12	1715	c.1445G>A	c.(1444-1446)CGT>CAT	p.R482H	EPRS_uc010puf.1_Missense_Mutation_p.R233H|EPRS_uc001hlz.1_Missense_Mutation_p.R482H|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	482	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACGACTGAACGTGAGGAGCC	0.353													T	220191840	C	T	220191840	3	4	275	1	0	0	0	0	1	0	0	0	5191	536	19	1	3177	1	EPRS	1	220191840	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5634371	220191840	29058781	127	141192											
TP53BP2	7159	broad.mit.edu	37	chr1	223971921	223971923	+	In_Frame_Del	DEL	CTT	CTT	-													gatgattgtcatgcagtctcCttctttcatgggcagctcat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:223971920_223971922CCTT>C	uc001hod.3	-	17	3682_3684	c.2871_2873AAGG>G	c.(2869-2874)gaagga>gaGa	p.G958del	TP53BP2_uc010pvb.2_In_Frame_Del_p.G1087del|TP53BP2_uc010puz.2_In_Frame_Del_p.G320del|TP53BP2_uc010pva.2_In_Frame_Del_p.G726del	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	1081	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CATGCAGTCTCCTTCTTTCATGG	0.443													-	223971923	CTT	-	223971921	7	5	275	1	0	1	0	1	0	0	0	0	16381	690	24	0	153	0	TP53BP2	1	223971921	In_Frame_Del	DEL	CTT	TCGA-HU-A4GX-01A-12D-A25D-08	3780081	223971921	25278700	128	141193											
TMEM63A	9725	broad.mit.edu	37	chr1	226062014	226062014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctgacaccagggcaatGcggccatagtcccagaatct	10	13	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:226062014G>A	uc001hpm.1	-	4	490	c.240C>T	c.(238-240)CGC>CGT	p.R80R	TMEM63A_uc010pvi.1_Silent_p.R80R	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	80						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CCAGGGCAATGCGGCCATAGT	0.318													A	226062014	G	A	226062014	2	1	275	1	0	0	0	0	0	0	0	1	16187	1306	46	2		2	TMEM63A	1	226062014	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2090093	226062014	23188607	129	141194											
OBSCN	84033	broad.mit.edu	37	chr1	228564859	228564859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagacagcagtgctgcgcGaatacgaggccctcaagggc	13	12	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:228564859G>A	uc009xez.1	+	101	23190	c.23146G>A	c.(23146-23148)GAA>AAA	p.E7716K	OBSCN_uc001hsr.1_Missense_Mutation_p.E2345K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7716	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTGCTGCGCGAATACGAGGC	0.677													A	228564859	G	A	228564859	3	1	275	1	0	0	0	0	1	0	0	0	10812	1059	37	1	24754	1	OBSCN	1	228564859	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2502845	228564859	20685762	130	141195											
TTC13	79573	broad.mit.edu	37	chr1	231060705	231060705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgcatgacctccaatgCggccaaacccatagctacga	9	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:231060705C>T	uc001huf.3	-	14	1634	c.1603G>A	c.(1603-1605)GCA>ACA	p.A535T	TTC13_uc009xfi.2_Missense_Mutation_p.A482T|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.A482T|TTC13_uc009xfk.1_Missense_Mutation_p.A425T	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	535							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACCTCCAATGCGGCCAAACCC	0.463													T	231060705	C	T	231060705	3	4	275	1	0	0	0	0	1	0	0	0	16677	768	27	1	1019	1	TTC13	1	231060705	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2495846	231060705	18189916	131	141196											
SIPA1L2	57568	broad.mit.edu	37	chr1	232564165	232564165	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagtcactaacctttcttcGcccctcctccactaaggggc	6	16	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232564165G>A	uc001hvg.2	-	15	4560	c.4402C>T	c.(4402-4404)CGA>TGA	p.R1468*	SIPA1L2_uc001hvf.2_Nonsense_Mutation_p.R542*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1468					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCTTTCTTCGCCCCTCCTCC	0.403													A	232564165	G	A	232564165	4	1	275	1	0	0	0	0	0	1	0	0	14330	1095	38	1	794	1	SIPA1L2	1	232564165	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1503460	232564165	16686456	132	141197											
SIPA1L2	57568	broad.mit.edu	37	chr1	232579387	232579387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccagggtccgctcccgCcgggtccagggtcgctggag	16	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232579387C>T	uc001hvg.2	-	10	3556	c.3398G>A	c.(3397-3399)GGC>GAC	p.G1133D	SIPA1L2_uc001hvf.2_Missense_Mutation_p.G207D	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1133					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCGCTCCCGCCGGGTCCAGG	0.522													T	232579387	C	T	232579387	3	4	275	1	0	0	0	0	1	0	0	0	14330	739	26	2	1818	2	SIPA1L2	1	232579387	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	15222	232579387	16671234	133	141198											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581486	232581486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggggtgccctcgctgtCgagtttatattccaccatag	12	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232581486C>T	uc001hvg.2	-	9	3300	c.3142G>A	c.(3142-3144)GAC>AAC	p.D1048N	SIPA1L2_uc001hvf.2_Missense_Mutation_p.D122N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1048					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCTCGCTGTCGAGTTTATAT	0.582													T	232581486	C	T	232581486	3	4	275	1	0	0	0	0	1	0	0	0	14330	884	31	1	2078	1	SIPA1L2	1	232581486	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2099	232581486	16669135	134	141199											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650347	232650347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctagaaatctgtgctgCtgcatgaaggctcggagaga	12	10	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:232650347C>T	uc001hvg.2	-	1	897	c.739G>A	c.(739-741)GCA>ACA	p.A247T		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	247					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATCTGTGCTGCTGCATGAAGG	0.493													T	232650347	C	T	232650347	3	4	275	1	0	0	0	0	1	0	0	0	14330	797	28	2	4513	2	SIPA1L2	1	232650347	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	68861	232650347	16600274	135	141200											
ERO1LB	56605	broad.mit.edu	37	chr1	236393553	236393554	+	Splice_Site	DEL	GA	GA	-													atgtgtagaatgattctcctGagagagagagaaaagtggat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:236393552_236393553TGA>T	uc001hxt.3	-	10	942	c.686_splice	c.e10-1	p.G229_splice		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	229					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)			ATGATTCTCCTGAGAGAGAGAG	0.302													-	236393554	GA	-	236393553	8	5	275	1	0	1	0	1	0	0	1	0	5240	1305	45	0		0	ERO1LB	1	236393553	Splice_Site	DEL	GA	TCGA-HU-A4GX-01A-12D-A25D-08	3743206	236393553	12857068	136	141201											
RYR2	6262	broad.mit.edu	37	chr1	237540677	237540677	+	Frame_Shift_Del	DEL	A	A	-													taagcagcgatcagaaggagAaaaagtacgagttggagatg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:237540677delA	uc001hyl.1	+	8	638	c.518delA	c.(517-519)GAAfs	p.E173fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	173	Cytoplasmic (By similarity).|MIR 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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			TCAGAAGGAGAAAAAGTACGA	0.433													-	237540677	A	-	237540677	7	5	275	1	0	1	0	1	0	0	0	0	13769	246	9	0	548	0	RYR2	1	237540677	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	1147124	237540677	11709944	137	141202											
RYR2	6262	broad.mit.edu	37	chr1	237872296	237872296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctgaggccaggggggAcatgtcggaggcagaactcc	17	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:237872296A>G	uc001hyl.1	+	69	10160	c.10040A>G	c.(10039-10041)GAC>GGC	p.D3347G	RYR2_uc010pxz.1_Missense_Mutation_p.D302G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3347					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GCCAGGGGGGACATGTCGGAG	0.483													G	237872296	A	G	237872296	3	3	275	1	0	0	0	0	1	0	0	0	13769	275	10	3	10314	3	RYR2	1	237872296	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	331619	237872296	11378325	138	141203											
SDCCAG8	10806	broad.mit.edu	37	chr1	243456462	243456462	+	Frame_Shift_Del	DEL	T	T	-													gcgaaacctccaaaagaccaTtttcccatgacaatgcagat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:243456461_243456461AT>A	uc001hzw.3	+	5	784	c.615_615AT>A	c.(613-615)ccafs	p.P205fs	SDCCAG8_uc010pyk.2_Frame_Shift_Del_p.P60fs|SDCCAG8_uc010pyl.2_Intron|SDCCAG8_uc001hzx.3_Intron|SDCCAG8_uc001hzy.1_Frame_Shift_Del_p.P21fs	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	205					G2/M transition of mitotic cell cycle|establishment of cell polarity|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)		CCAAAAGACCATTTTCCCATG	0.413													-	243456462	T	-	243456462	7	5	275	1	0	1	0	1	0	0	0	0	13959	1493	52	0	638	0	SDCCAG8	1	243456462	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	5584166	243456462	5794159	139	141204											
C1orf101	257044	broad.mit.edu	37	chr1	244715736	244715736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttcttattctgttgactTttcctttgttgaccatacct	4	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:244715736T>C	uc001iam.2	+	9	708	c.649T>C	c.(649-651)TTT>CTT	p.F217L	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.F217L|C1orf101_uc010pym.1_Missense_Mutation_p.F66L|C1orf101_uc010pyn.1_Missense_Mutation_p.F150L	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	217	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	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)			TCTGTTGACTTTTCCTTTGTT	0.383													C	244715736	T	C	244715736	3	2	275	1	0	0	0	0	1	0	0	0	1976	1841	64	3	683	3	C1orf101	1	244715736	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1259274	244715736	4534885	140	141205											
KIF26B	55083	broad.mit.edu	37	chr1	245848855	245848855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccccgactactcctccaGcagcgagcagtcctgcgaca	9	18	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:245848855G>A	uc001ibf.1	+	12	3010	c.2570G>A	c.(2569-2571)AGC>AAC	p.S857N	KIF26B_uc001ibg.1_Missense_Mutation_p.S475N|KIF26B_uc001ibh.1_Missense_Mutation_p.S99N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	857					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	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)			TACTCCTCCAGCAGCGAGCAG	0.652													A	245848855	G	A	245848855	3	1	275	1	0	0	0	0	1	0	0	0	8295	971	34	2	2616	2	KIF26B	1	245848855	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1133119	245848855	3401766	141	141206											
ZNF124	7678	broad.mit.edu	37	chr1	247319909	247319909	+	Frame_Shift_Del	DEL	T	T	-													gggcttttctccagtatgagTttttttatgcttccaaaggg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:247319908_247319908GT>G	uc001ick.3	-	3	1155	c.1016_1016AC>C	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Del_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					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)			TCCAGTATGAGTTTTTTTATG	0.368													-	247319909	T	-	247319909	7	5	275	1	0	1	0	1	0	0	0	0	17717	1725	60	0	44	0	ZNF124	1	247319909	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1471054	247319909	1930712	142	141207											
OR2B11	127623	broad.mit.edu	37	chr1	247614785	247614785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagaatggcaattgcaccGtcaggaccacctgcacgaag	11	13	1	1	rs149375684	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:247614785G>A	uc010pyx.1	-	1	500	c.500C>T	c.(499-501)ACG>ATG	p.T167M		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	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)			CAATTGCACCGTCAGGACCAC	0.592													A	247614785	G	A	247614785	3	1	275	1	0	0	0	0	1	0	0	0	10988	1145	40	1	456	1	OR2B11	1	247614785	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	294876	247614785	1635836	143	141208											
OR2L2	26246	broad.mit.edu	37	chr1	248202418	248202418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaccatcctcaccccaatGctcaaccccatcatctacag	2	19	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr1:248202418G>A	uc001idw.2	+	1	945	c.849G>A	c.(847-849)ATG>ATA	p.M283I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			TCACCCCAATGCTCAACCCCA	0.468													A	248202418	G	A	248202418	3	1	275	1	0	0	0	0	1	0	0	0	11007	1319	46	2	851	2	OR2L2	1	248202418	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	587633	248202418	1048203	144	141209											
TPO	7173	broad.mit.edu	37	chr2	1497755	1497755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccagggctcggacaggGcccctgtttgcctgtctcat	11	16	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:1497755G>A	uc002qww.2	+	11	2041	c.1950G>A	c.(1948-1950)GGG>GGA	p.G650G	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.G593G|TPO_uc002qwr.2_Silent_p.G650G|TPO_uc002qwx.2_Silent_p.G593G|TPO_uc010yio.1_Silent_p.G477G|TPO_uc010yip.1_Silent_p.G650G|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	650	Extracellular (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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	CTCGGACAGGGCCCCTGTTTG	0.567													A	1497755	G	A	1497755	2	1	275	1	0	0	0	0	0	0	0	1	16407	1190	42	2		2	TPO	2	1497755	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		1497755	241701618	145	141210											
MYT1L	23040	broad.mit.edu	37	chr2	1926216	1926216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggcctttgctctttccGtttccaaagcgatggctttc	8	12	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:1926216G>A	uc002qxe.2	-	10	2152	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M	MYT1L_uc002qxd.2_Missense_Mutation_p.T442M|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	442					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		TGCTCTTTCCGTTTCCAAAGC	0.547													A	1926216	G	A	1926216	3	1	275	1	0	0	0	0	1	0	0	0	10107	1145	40	1	2293	1	MYT1L	2	1926216	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	428461	1926216	241273157	146	141211											
MYT1L	23040	broad.mit.edu	37	chr2	1983514	1983514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgaacccctttggaccgCgtgcgatgccgcttctcctc	9	18	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:1983514C>T	uc002qxe.2	-	6	863	c.36G>A	c.(34-36)ACG>ACA	p.T12T	MYT1L_uc002qxd.2_Silent_p.T12T|MYT1L_uc002qxf.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	12					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		CTTTGGACCGCGTGCGATGCC	0.617													T	1983514	C	T	1983514	2	4	275	1	0	0	0	0	0	0	0	1	10107	755	27	1		1	MYT1L	2	1983514	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	57298	1983514	241215859	147	141212											
KIDINS220	57498	broad.mit.edu	37	chr2	8871439	8871439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcctttttgtcaaggagcGcatccgataaatactctttg	7	9	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:8871439G>A	uc002qzc.2	-	30	4909	c.4727C>T	c.(4726-4728)GCG>GTG	p.A1576V	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A1477V|KIDINS220_uc002qzb.2_Missense_Mutation_p.A430V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1576	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCAAGGAGCGCATCCGATAA	0.473													A	8871439	G	A	8871439	3	1	275	1	0	0	0	0	1	0	0	0	8271	1087	38	1	592	1	KIDINS220	2	8871439	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6887925	8871439	234327934	148	141213											
NBAS	51594	broad.mit.edu	37	chr2	15679412	15679412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagttcctgtgctttcggCataggccagtagggtacaat	11	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:15679412C>T	uc002rcc.1	-	7	474	c.448G>A	c.(448-450)GCC>ACC	p.A150T	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	150	WD 1.									ovary(2)|liver(1)|skin(1)	4						GTGCTTTCGGCATAGGCCAGT	0.438													T	15679412	C	T	15679412	3	4	275	1	0	0	0	0	1	0	0	0	10186	710	25	2	6851	2	NBAS	2	15679412	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6807973	15679412	227519961	149	141214											
DDX1	1653	broad.mit.edu	37	chr2	15771006	15771006	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcttggctaccttccTaaccagctgttcagaacctt	6	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:15771006T>C	uc002rce.2	+	26	2487	c.2199T>C	c.(2197-2199)CCT>CCC	p.P733P		NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	733	Necessary for interaction with HNRNPK.				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			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	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)		GCTACCTTCCTAACCAGCTGT	0.408													C	15771006	T	C	15771006	2	2	275	1	0	0	0	0	0	0	0	1	4341	1509	53	3		3	DDX1	2	15771006	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	91594	15771006	227428367	150	141215											
KCNS3	3790	broad.mit.edu	37	chr2	18112824	18112824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccagcgtactgcctgtcCgctaagcttatcgctatctc	7	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:18112824C>T	uc002rcv.2	+	3	1000	c.549C>T	c.(547-549)TCC>TCT	p.S183S	KCNS3_uc002rcw.2_Silent_p.S183S	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	183	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTGCCTGTCCGCTAAGCTTA	0.512													T	18112824	C	T	18112824	2	4	275	1	0	0	0	0	0	0	0	1	8090	639	23	1		1	KCNS3	2	18112824	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2341818	18112824	225086549	151	141216											
PUM2	23369	broad.mit.edu	37	chr2	20453761	20453761	+	Frame_Shift_Del	DEL	T	T	-													gggaggcatgagtaacacacTtttctactacattgctaaaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:20453760_20453760CT>C	uc002rds.1	-	18	2904	c.2886_2886AG>G	c.(2884-2886)aagfs	p.K962fs	PUM2_uc002rdq.1_Frame_Shift_Del_p.K341fs|PUM2_uc002rdt.1_Frame_Shift_Del_p.K962fs|PUM2_uc002rdr.2_Frame_Shift_Del_p.K822fs|PUM2_uc010yjy.1_Frame_Shift_Del_p.K883fs|PUM2_uc002rdu.1_Frame_Shift_Del_p.K962fs|PUM2_uc010yjz.1_Frame_Shift_Del_p.K901fs	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	964	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein 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)					GAGTAACACACTTTTCTACTA	0.378													-	20453761	T	-	20453761	7	5	275	1	0	1	0	1	0	0	0	0	12826	1609	56	0	317	0	PUM2	2	20453761	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	2340937	20453761	222745612	152	141217											
CENPO	79172	broad.mit.edu	37	chr2	25038554	25038554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttacagaccaacatccagCacttcctgttcagtctctgc	5	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:25038554C>T	uc002rfo.1	+	5	712	c.523C>T	c.(523-525)CAC>TAC	p.H175Y	CENPO_uc002rfn.2_Missense_Mutation_p.H175Y|CENPO_uc002rfp.1_Missense_Mutation_p.H169Y|CENPO_uc002rfq.1_Missense_Mutation_p.H175Y	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	175					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAACATCCAGCACTTCCTGTT	0.478													T	25038554	C	T	25038554	3	4	275	1	0	0	0	0	1	0	0	0	3239	710	25	2	537	2	CENPO	2	25038554	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4584793	25038554	218160819	153	141218											
ADCY3	109	broad.mit.edu	37	chr2	25141779	25141779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccccgcggtcagggtcGgagggcaggctgacggagta	17	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:25141779G>A	uc002rfs.3	-	1	277	c.78C>T	c.(76-78)TCC>TCT	p.S26S	ADCY3_uc010ykm.1_Silent_p.S26S	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	26	Cytoplasmic (Potential).				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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGTCAGGGTCGGAGGGCAGGC	0.557													A	25141779	G	A	25141779	2	1	275	1	0	0	0	0	0	0	0	1	295	1103	39	1		1	ADCY3	2	25141779	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	103225	25141779	218057594	154	141219											
OTOF	9381	broad.mit.edu	37	chr2	26698267	26698267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaatgacaatgatgggcGgatcgtccctcagctcatga	10	10	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:26698267G>A	uc002rhk.2	-	25	3213	c.3086C>T	c.(3085-3087)CCG>CTG	p.P1029L	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.P282L|OTOF_uc002rhi.2_Missense_Mutation_p.P339L|OTOF_uc002rhj.2_Missense_Mutation_p.P282L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1029	Cytoplasmic (Potential).|C2 3.				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGATGGGCGGATCGTCCCT	0.572													A	26698267	G	A	26698267	3	1	275	1	0	0	0	0	1	0	0	0	11303	1116	39	1	3180	1	OTOF	2	26698267	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1556488	26698267	216501106	155	141220											
C2orf53	339779	broad.mit.edu	37	chr2	27360640	27360640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccactccaggggacccGgacccagtgtccctgtactg	10	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27360640G>A	uc002rjb.2	-	3	1138	c.558C>T	c.(556-558)TCC>TCT	p.S186S		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	186											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGGACCCGGACCCAGTGT	0.637													A	27360640	G	A	27360640	2	1	275	1	0	0	0	0	0	0	0	1	2174	1103	39	1		1	C2orf53	2	27360640	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	662373	27360640	215838733	156	141221											
SLC5A6	8884	broad.mit.edu	37	chr2	27430328	27430328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaaggcagcccattttgCggtccgccatcagcagctca	11	15	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27430328C>T	uc002rjd.2	-	3	582	c.191G>A	c.(190-192)CGC>CAC	p.R64H	SLC5A6_uc010eyv.1_Missense_Mutation_p.R64H|SLC5A6_uc002rje.1_Missense_Mutation_p.R64H	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	64					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCCCATTTTGCGGTCCGCCAT	0.612													T	27430328	C	T	27430328	3	4	275	1	0	0	0	0	1	0	0	0	14669	768	27	1	1776	1	SLC5A6	2	27430328	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	69688	27430328	215769045	157	141222											
CAD	790	broad.mit.edu	37	chr2	27457496	27457496	+	Frame_Shift_Del	DEL	G	G	-													ttggccacgcgggtcatcatGggggaagaagtggaacctgt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27457495_27457495TG>T	uc002rji.3	+	22	3890	c.3728_3728TG>T	c.(3727-3729)atgfs	p.M1243fs	CAD_uc010eyw.3_Frame_Shift_Del_p.M1180fs	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1243	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'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	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|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)	CGGGTCATCATGGGGGAAGAA	0.512													-	27457496	G	-	27457496	7	5	275	1	0	1	0	1	0	0	0	0	2565	1348	47	0	3819	0	CAD	2	27457496	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	27168	27457496	215741877	158	141223											
SLC30A3	7781	broad.mit.edu	37	chr2	27478188	27478188	+	Frame_Shift_Del	DEL	G	G	-													cagggccatggctcaggcttGggggggttcctggcagcgca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27478187_27478187TG>T	uc002rjk.3	-	7	1346	c.1160_1160CA>A	c.(1159-1161)caafs	p.Q387fs	SLC30A3_uc002rjj.3_Frame_Shift_Del_p.K233fs|SLC30A3_uc010ylh.2_Frame_Shift_Del_p.Q382fs	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	387					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCAGGCTTGGGGGGGTTC	0.662													-	27478188	G	-	27478188	7	5	275	1	0	1	0	1	0	0	0	0	14556	1357	47	0	11	0	SLC30A3	2	27478188	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	20692	27478188	215721185	159	141224											
EIF2B4	8890	broad.mit.edu	37	chr2	27592748	27592748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctcacttaccccagGcccagggggaagctccgcct	12	16	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27592748G>A	uc002rkb.2	-	2	213	c.70C>T	c.(70-72)CCT>TCT	p.P24S	EIF2B4_uc002rjz.2_Missense_Mutation_p.P45S|EIF2B4_uc002rka.2_Missense_Mutation_p.P9S|EIF2B4_uc002rkc.2_Missense_Mutation_p.P24S|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_5'UTR|EIF2B4_uc002rkf.1_5'UTR|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	24					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTACCCCAGGCCCAGGGGGA	0.627													A	27592748	G	A	27592748	3	1	275	1	0	0	0	0	1	0	0	0	5003	1203	42	2	1549	2	EIF2B4	2	27592748	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	114560	27592748	215606625	160	141225											
C2orf16	84226	broad.mit.edu	37	chr2	27803796	27803796	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttccaacccagacctcttCgactgcccaagcccacagat	5	18	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:27803796C>T	uc002rkz.3	+	1	4408	c.4357C>T	c.(4357-4359)CGA>TGA	p.R1453*	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1453										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAGACCTCTTCGACTGCCCAA	0.507													T	27803796	C	T	27803796	4	4	275	1	0	0	0	0	0	1	0	0	2157	876	31	1	4359	1	C2orf16	2	27803796	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	211048	27803796	215395577	161	141226											
PLB1	151056	broad.mit.edu	37	chr2	28821628	28821628	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccggagcaaaggctgaGtatggcatttggggagggag	18	6	0	1	rs151120274		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:28821628G>A	uc002rmb.1	+	35	2474	c.2474_splice	c.e35+1	p.E825_splice	PLB1_uc010ezj.1_Splice_Site_p.E814_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAAAGGCTGAGTATGGCATTT	0.552													A	28821628	G	A	28821628	5	1	275	1	0	0	0	0	0	0	1	0	12024	1043	36	4	2646	4	PLB1	2	28821628	Splice_Site	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1017832	28821628	214377745	162	141227											
ALK	238	broad.mit.edu	37	chr2	29416518	29416518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggttggactgagagaatgCcatattcacgtgtccccctt	11	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:29416518C>T	uc002rmy.2	-	29	5342	c.4435G>A	c.(4435-4437)GCA>ACA	p.A1479T	ALK_uc010ymo.1_Missense_Mutation_p.A411T	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1479	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGAGAGAATGCCATATTCACG	0.567			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				T	29416518	C	T	29416518	3	4	275	1	0	0	0	0	1	0	0	0	525	739	26	2	431	2	ALK	2	29416518	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	594890	29416518	213782855	163	141228											
GALNT14	79623	broad.mit.edu	37	chr2	31178570	31178570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagagtggtgccctgggCgatgtcagcgccccgaatcc	14	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:31178570C>T	uc002rnr.2	-	6	1187	c.568G>A	c.(568-570)GCC>ACC	p.A190T	GALNT14_uc002rnq.2_Missense_Mutation_p.A170T|GALNT14_uc002rns.2_Missense_Mutation_p.A195T|GALNT14_uc010ymr.1_Missense_Mutation_p.A155T|GALNT14_uc010ezo.1_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	190	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTGCCCTGGGCGATGTCAGCG	0.597													T	31178570	C	T	31178570	3	4	275	1	0	0	0	0	1	0	0	0	6212	768	27	1	1130	1	GALNT14	2	31178570	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1762052	31178570	212020803	164	141229											
XDH	7498	broad.mit.edu	37	chr2	31567565	31567565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctataaaacccagtgGcagacaagctcactgtgtcc	7	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:31567565G>A	uc002rnv.1	-	31	3468	c.3389C>T	c.(3388-3390)GCC>GTC	p.A1130V		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1130					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	AAACCCAGTGGCAGACAAGCT	0.542													A	31567565	G	A	31567565	3	1	275	1	0	0	0	0	1	0	0	0	17423	1203	42	2	636	2	XDH	2	31567565	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	388995	31567565	211631808	165	141230											
MSH6	2956	broad.mit.edu	37	chr2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C													attctgttgccggaagatacINScccccccttcttagagctta					rs63749866		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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)|p.F1088fs*5(1)|p.F1088fs*2(1)		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)			GCCGGAAGATACCCCCCCCTTC	0.436			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	48030641	-	C	48030640	7	5	275	1	0	1	1	0	0	0	0	0	9874	507	18	0	3272	0	MSH6	2	48030640	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	16463075	48030640	195168733	166	141231											
NRXN1	9378	broad.mit.edu	37	chr2	50280512	50280512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacatctctgattgcatgGcagtggctgttgactcagtt	12	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:50280512G>A	uc010fbp.2	-	4	1637	c.830C>T	c.(829-831)GCC>GTC	p.A277V	NRXN1_uc002rxb.3_Missense_Mutation_p.A1014V|NRXN1_uc010fbq.2_Missense_Mutation_p.A1382V|NRXN1_uc002rxe.3_Missense_Mutation_p.A1312V	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	277	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGATTGCATGGCAGTGGCTGT	0.498													A	50280512	G	A	50280512	3	1	275	1	0	0	0	0	1	0	0	0	10665	1203	42	2	510	2	NRXN1	2	50280512	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2249872	50280512	192918861	167	141232											
RTN4	57142	broad.mit.edu	37	chr2	55254422	55254422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagacctctttagaagcTtcactgacattttcttgaag	7	9	4	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:55254422T>C	uc002rye.2	-	3	1111	c.813A>G	c.(811-813)GAA>GAG	p.E271E	RTN4_uc002ryd.2_Silent_p.E65E|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	271	Cytoplasmic (Potential).				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			ovary(2)|large_intestine(1)	3						CTTTAGAAGCTTCACTGACAT	0.378													C	55254422	T	C	55254422	2	2	275	1	0	0	0	0	0	0	0	1	13728	1606	56	3		3	RTN4	2	55254422	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	4973910	55254422	187944951	168	141233											
PNPT1	87178	broad.mit.edu	37	chr2	55900055	55900055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatatttcacaatctctggcGaaggggtaaataacttctga	8	7	3	1	rs143022417	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:55900055G>A	uc002rzf.2	-	9	892	c.839C>T	c.(838-840)TCG>TTG	p.S280L	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	280					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATCTCTGGCGAAGGGGTAAA	0.383													A	55900055	G	A	55900055	3	1	275	1	0	0	0	0	1	0	0	0	12173	1059	37	1	1592	1	PNPT1	2	55900055	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	645633	55900055	187299318	169	141234											
VRK2	7444	broad.mit.edu	37	chr2	58362312	58362312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtcagtgcttaaatgGgctccttctggaagcagttg	11	11	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:58362312G>T	uc002rzo.2	+	13	1579	c.834G>T	c.(832-834)TGG>TGT	p.W278C	VRK2_uc010fcb.2_Missense_Mutation_p.W278C|VRK2_uc002rzs.2_Missense_Mutation_p.W278C|VRK2_uc002rzr.2_Missense_Mutation_p.W278C|VRK2_uc010fcc.2_Missense_Mutation_p.W160C|VRK2_uc002rzv.2_Missense_Mutation_p.W278C|VRK2_uc010fcd.2_Missense_Mutation_p.W255C|VRK2_uc002rzp.2_Missense_Mutation_p.W278C|VRK2_uc010ypg.1_Missense_Mutation_p.W278C|VRK2_uc002rzq.2_Missense_Mutation_p.W278C|VRK2_uc002rzu.2_Missense_Mutation_p.W278C|VRK2_uc002rzt.2_Missense_Mutation_p.W160C	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	278	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						TGCTTAAATGGGCTCCTTCTG	0.393													T	58362312	G	T	58362312	3	4	275	1	0	0	0	0	1	0	0	0	17217	1241	43	5	868	5	VRK2	2	58362312	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2462257	58362312	184837061	170	141235											
FANCL	55120	broad.mit.edu	37	chr2	58392978	58392978	+	Frame_Shift_Del	DEL	A	A	-													ttagtgattctattgctgccAaaaactgactataaatgctt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:58392977_58392977CA>C	uc002rzx.4	-	7	655	c.588_588TG>G	c.(586-588)ttgfs	p.L196fs	FANCL_uc002rzw.4_Frame_Shift_Del_p.L191fs|FANCL_uc010fce.3_Frame_Shift_Del_p.L191fs|FANCL_uc010fcf.1_Frame_Shift_Del_p.L132fs	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Homo sapiens Fanconi anemia, complementation group L (FANCL), transcript variant 1, mRNA.	191					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CTATTGCTGCCAAAAACTGAC	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	58392978	A	-	58392978	7	5	275	1	0	1	0	1	0	0	0	0	5670	131	5	0	583	0	FANCL	2	58392978	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	30666	58392978	184806395	171	141236											
BCL11A	53335	broad.mit.edu	37	chr2	60688200	60688201	+	Frame_Shift_Ins	INS	-	-	C													cagcagctttttggacaggcINScccccgaggccgactcgccc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:60688199_60688200G>GC	uc002sae.1	-	3	2075_2076	c.1847_1848C>GC	c.(1846-1848)ggcfs	p.G616fs	BCL11A_uc002sab.3_Frame_Shift_Ins_p.G616fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Frame_Shift_Ins_p.G285fs|BCL11A_uc010ypj.2_Frame_Shift_Ins_p.G582fs|BCL11A_uc002sad.1_Frame_Shift_Ins_p.G464fs|BCL11A_uc002saf.1_Frame_Shift_Ins_p.G582fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	616					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)			TTTTGGACAGGCCCCCCGAGGC	0.668			T	IGH@	B-CLL								C	60688201	-	C	60688200	7	5	275	1	0	1	1	0	0	0	0	0	1363	739	26	0	770	0	BCL11A	2	60688200	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	2295222	60688200	182511173	172	141237											
BCL11A	53335	broad.mit.edu	37	chr2	60688451	60688451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgcccacgcccacgacCgcgccccgcgagctgttctc	10	21	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:60688451C>T	uc002sae.1	-	4	1824	c.1596G>A	c.(1594-1596)GCG>GCA	p.A532A	BCL11A_uc002sab.2_Silent_p.A532A|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.A201A|BCL11A_uc010ypj.1_Silent_p.A498A|BCL11A_uc002sad.1_Silent_p.A380A|BCL11A_uc002saf.1_Silent_p.A498A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	532					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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCCCACGACCGCGCCCCGCG	0.647			T	IGH@	B-CLL								T	60688451	C	T	60688451	2	4	275	1	0	0	0	0	0	0	0	1	1363	639	23	1		1	BCL11A	2	60688451	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	251	60688451	182510922	173	141238											
PNO1	56902	broad.mit.edu	37	chr2	68385130	68385131	+	Frame_Shift_Ins	INS	-	-	A													ctttacccaggtcacccgcaINSagggtggccgacgggcgaag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:68385129_68385130C>CA	uc002seh.3	+	0	125_126	c.63_64C>CA	c.(61-66)cgcaagfs	p.R21fs	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	Homo sapiens partner of NOB1 homolog (S. cerevisiae) (PNO1), mRNA.	21						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						AGGTCACCCGCAAGGGTGGCCG	0.644													A	68385131	-	A	68385130	7	5	275	1	0	1	1	0	0	0	0	0	12161	131	5	0	66	0	PNO1	2	68385130	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	7696679	68385130	174814243	174	141239											
ADD2	119	broad.mit.edu	37	chr2	70904970	70904970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttcgatgcgaatcggcaTgccactgctggatttctcca	10	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:70904970T>C	uc002sgz.2	-	12	1888	c.1423A>G	c.(1423-1425)ATG>GTG	p.M475V	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.M475V|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.M475V|ADD2_uc010fdt.1_Missense_Mutation_p.M475V|ADD2_uc002shc.1_Missense_Mutation_p.M475V|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.M491V	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	475					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			ovary(2)|pancreas(1)	3						CGAATCGGCATGCCACTGCTG	0.527													C	70904970	T	C	70904970	3	2	275	1	0	0	0	0	1	0	0	0	305	1464	51	3	954	3	ADD2	2	70904970	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2519840	70904970	172294403	175	141240											
TET3	200424	broad.mit.edu	37	chr2	74328185	74328185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcaagacacctctgtccGaggtgtctcagaatggagga	14	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:74328185G>A	uc002skb.3	+	9	3865	c.3865G>A	c.(3865-3867)GAG>AAG	p.E1289K		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1289							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ACCTCTGTCCGAGGTGTCTCA	0.597													A	74328185	G	A	74328185	3	1	275	1	0	0	0	0	1	0	0	0	15768	1059	37	1	3899	1	TET3	2	74328185	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3423215	74328185	168871188	176	141241											
INO80B	83444	broad.mit.edu	37	chr2	74684957	74684957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgcggctgggggggcCcgagggtcctggatcccccc	18	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:74684957C>A	uc002slg.2	+	5	1082	c.1037C>A	c.(1036-1038)CCC>CAC	p.P346H	INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Missense_Mutation_p.P318H|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.P364H|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	346					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			pancreas(1)	1						CTGGGGGGGCCCGAGGGTCCT	0.637													A	74684957	C	A	74684957	3	1	275	1	0	0	0	0	1	0	0	0	7747	623	22	5	1055	5	INO80B	2	74684957	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	356772	74684957	168514416	177	141242											
ADRA2B	151	broad.mit.edu	37	chr2	96781543	96781543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgtactccagcgcgcGgctcacggcccagtagcggt	15	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:96781543G>A	uc002svi.2	-	1	346	c.346C>T	c.(346-348)CGC>TGC	p.R116C		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	116	Cytoplasmic (By similarity).				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			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCCAGCGCGCGGCTCACGGCC	0.657													A	96781543	G	A	96781543	3	1	275	1	0	0	0	0	1	0	0	0	338	1116	39	1	1001	1	ADRA2B	2	96781543	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	22096586	96781543	146417830	178	141243											
ZAP70	7535	broad.mit.edu	37	chr2	98351887	98351887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatggagatggctgggggCgggccgctgcacaagttcct	17	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:98351887C>T	uc002syd.1	+	10	1464	c.1257C>T	c.(1255-1257)GGC>GGT	p.G419G	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.G309G|ZAP70_uc002syf.1_Silent_p.G112G	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	419	Protein kinase.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TGGCTGGGGGCGGGCCGCTGC	0.682													T	98351887	C	T	98351887	2	4	275	1	0	0	0	0	0	0	0	1	17511	755	27	1		1	ZAP70	2	98351887	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1570344	98351887	144847486	179	141244											
EIF5B	9669	broad.mit.edu	37	chr2	100015340	100015340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaaaatgtttggaagaCattttgaagctacagatatt	7	7	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:100015340C>T	uc002tab.2	+	23	3707	c.3523C>T	c.(3523-3525)CAT>TAT	p.H1175Y	EIF5B_uc010yvq.1_Missense_Mutation_p.H157Y	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1175					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GTTTGGAAGACATTTTGAAGC	0.373													T	100015340	C	T	100015340	3	4	275	1	0	0	0	0	1	0	0	0	5044	478	17	4	3613	4	EIF5B	2	100015340	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1663453	100015340	143184033	180	141245											
SLC9A2	6549	broad.mit.edu	37	chr2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-													tggccgagatatgcccagcaCccccccaacaccccacagca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:103324745_103324745AC>A	uc002tca.3	+	11	2378	c.2236_2236AC>A	c.(2236-2238)accfs	p.T746fs		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	746						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						TATGCCCAGCACCCCCCCAAC	0.527													-	103324746	C	-	103324746	7	5	275	1	0	1	0	1	0	0	0	0	14712	507	18	0	2283	0	SLC9A2	2	103324746	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	3309406	103324746	139874627	181	141246											
RANBP2	5903	broad.mit.edu	37	chr2	109380371	109380371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaaaagaattctggttttCggcgaagtgatgatatgttt	11	4	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:109380371C>T	uc002tem.3	+	20	3502	c.3376C>T	c.(3376-3378)CGG>TGG	p.R1126W		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1126					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TTCTGGTTTTCGGCGAAGTGA	0.403													T	109380371	C	T	109380371	3	4	275	1	0	0	0	0	1	0	0	0	13028	875	31	1	3454	1	RANBP2	2	109380371	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6055625	109380371	133819002	182	141247											
PSD4	23550	broad.mit.edu	37	chr2	113942944	113942945	+	Frame_Shift_Del	DEL	CT	CT	-													ctttgcctctctcaacaggcCtctctcagccctgagggctg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:113942943_113942944CCT>C	uc002tjc.3	+	3	1358_1359	c.1175_1176CCT>C	c.(1174-1176)gccfs	p.A392fs	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Frame_Shift_Del_p.A391fs|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	392					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						TCTCAACAGGCCTCTCTCAGCC	0.594													-	113942945	CT	-	113942944	7	5	275	1	0	1	0	1	0	0	0	0	12649	668	24	0	1186	0	PSD4	2	113942944	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GX-01A-12D-A25D-08	4562573	113942944	129256429	183	141248											
EPB41L5	57669	broad.mit.edu	37	chr2	120836150	120836150	+	Frame_Shift_Del	DEL	T	T	-													gagataccaaaattggcttaTttttttggtaagcaagagtt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:120836150delT	uc002tmg.2	+	10	922	c.796delT	c.(796-798)TTTfs	p.F266fs	EPB41L5_uc010flk.2_Frame_Shift_Del_p.F266fs|EPB41L5_uc010fll.2_Frame_Shift_Del_p.F266fs|EPB41L5_uc002tmh.3_Frame_Shift_Del_p.F266fs|EPB41L5_uc010flm.2_Frame_Shift_Del_p.F70fs	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	266	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AATTGGCTTATTTTTTTGGTA	0.279													-	120836150	T	-	120836150	7	5	275	1	0	1	0	1	0	0	0	0	5157	1493	52	0	830	0	EPB41L5	2	120836150	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	6893206	120836150	122363223	184	141249											
UGGT1	56886	broad.mit.edu	37	chr2	128867247	128867248	+	Frame_Shift_Ins	INS	-	-	T													accagaaggatgtaattcgtINSttttttcagtgcatggaaag					rs138042550		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:128867246_128867247G>GT	uc002tps.3	+	4	625_626	c.447_448G>GT	c.(445-450)tcgtttfs	p.S149fs	UGGT1_uc010fme.1_Frame_Shift_Ins_p.S24fs|UGGT1_uc002tpr.3_Frame_Shift_Ins_p.S125fs	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	149					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	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						GATGTAATTCGTTTTTTTCAGT	0.371													T	128867248	-	T	128867247	7	5	275	1	0	1	1	0	0	0	0	0	16938	1725	60	0	466	0	UGGT1	2	128867247	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	8031097	128867247	114332126	185	141250											
CCDC74B	91409	broad.mit.edu	37	chr2	130902531	130902531	+	Frame_Shift_Del	DEL	G	G	-													gagcccggggtcggcgagctGgggggccgcgtcccagccgc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:130902531delG	uc002tqm.1	-	1	101	c.39delC	c.(37-39)CCCfs	p.P13fs	CCDC74B_uc010yzw.1_5'UTR|CCDC74B_uc002tqn.1_Frame_Shift_Del_p.P13fs|CCDC74B_uc010yzx.1_Frame_Shift_Del_p.P13fs	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	13											0	Colorectal(110;0.1)					TCGGCGAGCTGGGGGGCCGCG	0.761													-	130902531	G	-	130902531	7	5	275	1	0	1	0	1	0	0	0	0	2848	1335	47	0	1135	0	CCDC74B	2	130902531	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	2035284	130902531	112296842	186	141251											
LRP1B	53353	broad.mit.edu	37	chr2	141528516	141528516	+	Frame_Shift_Del	DEL	C	C	-													catacaagtccttgtagtttCagatgttggtaaacaaagtt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:141528515_141528515TC>T	uc002tvj.1	-	33	6533	c.5561_5561GA>A	c.(5560-5562)gaafs	p.E1854fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1854	EGF-like 4.				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)		CCTTGTAGTTTCAGATGTTGG	0.363										TSP Lung(27;0.18)			-	141528516	C	-	141528516	7	5	275	1	0	1	0	1	0	0	0	0	8955	835	29	0	8471	0	LRP1B	2	141528516	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	10625985	141528516	101670857	187	141252											
FMNL2	114793	broad.mit.edu	37	chr2	153476212	153476212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttcacccacagtggTtttcaactcaggattagcag	7	11	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:153476212T>C	uc002tye.2	+	15	2184	c.1817T>C	c.(1816-1818)GTT>GCT	p.V606A	FMNL2_uc010fob.2_Missense_Mutation_p.V55A|FMNL2_uc002tyf.2_Missense_Mutation_p.V55A	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	606					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CCCACAGTGGTTTTCAACTCA	0.493													C	153476212	T	C	153476212	3	2	275	1	0	0	0	0	1	0	0	0	5952	1725	60	3	1875	3	FMNL2	2	153476212	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	11947696	153476212	89723161	188	141253											
GALNT5	11227	broad.mit.edu	37	chr2	158115711	158115711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcttcctcttcacttgctCcacatagagtgccactgtcc	6	15	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:158115711C>A	uc002tzg.2	+	1	1372	c.1117C>A	c.(1117-1119)CCA>ACA	p.P373T	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	373	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TTCACTTGCTCCACATAGAGT	0.398													A	158115711	C	A	158115711	3	1	275	1	0	0	0	0	1	0	0	0	6216	855	30	5	1119	5	GALNT5	2	158115711	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4639499	158115711	85083662	189	141254											
TBR1	10716	broad.mit.edu	37	chr2	162280036	162280036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcttccacccgggcgcGggcgcgggccccgggccggg	19	19	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:162280036G>A	uc002ubw.1	+	6	1649	c.1347G>A	c.(1345-1347)GCG>GCA	p.A449A	TBR1_uc010foy.2_Silent_p.A162A	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	449						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						Acccgggcgcgggcgcgggcc	0.607													A	162280036	G	A	162280036	2	1	275	1	0	0	0	0	0	0	0	1	15644	1103	39	1		1	TBR1	2	162280036	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4164325	162280036	80919337	190	141255											
SCN3A	6328	broad.mit.edu	37	chr2	165987930	165987931	+	Splice_Site	INS	-	-	A													aaaatcccagtaaagacctaINSaaaaatagagatcagcacta							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:165987929_165987930T>TA	uc002ucx.3	-	16	2884	c.2392_splice	c.e16-1	p.V798_splice	SCN3A_uc002ucy.3_Splice_Site_p.V749_splice|SCN3A_uc002ucz.3_Splice_Site_p.V749_splice|SCN3A_uc002uda.1_Splice_Site_p.V618_splice|SCN3A_uc002udb.1_Splice_Site_p.V618_splice	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	798						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)	AGTAAAGACCTAAAAAATAGAG	0.327													A	165987931	-	A	165987930	8	5	275	1	0	1	1	0	0	0	1	0	13918	377	13	0		0	SCN3A	2	165987930	Splice_Site	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	3707894	165987930	77211443	191	141256											
SCN2A	6326	broad.mit.edu	37	chr2	166245972	166245972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagcgattcatggcaTcaaacccctccaaagtctct	8	12	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:166245972T>C	uc002udc.2	+	27	5946	c.5656T>C	c.(5656-5658)TCA>CCA	p.S1886P	SCN2A_uc002udd.2_Missense_Mutation_p.S1886P|SCN2A_uc002ude.2_Missense_Mutation_p.S1886P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1886					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATTCATGGCATCAAACCCCTC	0.458													C	166245972	T	C	166245972	3	2	275	1	0	0	0	0	1	0	0	0	13916	1435	50	3	5854	3	SCN2A	2	166245972	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	258042	166245972	76953401	192	141257											
CSRNP3	80034	broad.mit.edu	37	chr2	166514384	166514385	+	Frame_Shift_Ins	INS	-	-	G													cacaagtgtgcccagtcaagINSggggaagcaccctggggatg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:166514383_166514384A>AG	uc002udf.3	+	4	637_638	c.261_262A>AG	c.(259-264)caagggfs	p.Q87fs	CSRNP3_uc002udg.3_Frame_Shift_Ins_p.Q87fs	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	87					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						TGCCCAGTCAAGGGGGAAGCAC	0.54													G	166514385	-	G	166514384	7	5	275	1	0	1	1	0	0	0	0	0	3965	1000	35	0	268	0	CSRNP3	2	166514384	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	268412	166514384	76684989	193	141258											
FASTKD1	79675	broad.mit.edu	37	chr2	170428529	170428530	+	Frame_Shift_Ins	INS	-	-	T													tgactctaggaaaacaggtgINStttttttcatttatatcaca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:170428529_170428530insT	uc002uev.3	-	2	398_399	c.10_11insA	c.(10-12)ACAfs	p.T4fs	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	4					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						GAAAACAGGTGTTTTTTTCATT	0.366													T	170428530	-	T	170428529	7	5	275	1	0	1	1	0	0	0	0	0	5685	1377	48	0	2588	0	FASTKD1	2	170428529	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	3914145	170428529	72770844	194	141259	755	2									
FASTKD1	79675	broad.mit.edu	37	chr2	170428530	170428531	+	Frame_Shift_Ins	INS	-	-	T													gactctaggaaaacaggtgtINSttttttcatttatatcacaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:170428529_170428530G>GT	uc002uev.4	-	1	398_399	c.10_11C>AC	c.(10-12)acafs	p.T4fs	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	4					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						GAAAACAGGTGTTTTTTTCATT	0.366													T	170428531	-	T	170428530	7	5	275	1	0	1	1	0	0	0	0	0	5685	1725	60	0	2589	0	FASTKD1	2	170428530	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1	170428530	72770843	195	141260	755	2									
MAP1D	254042	broad.mit.edu	37	chr2	172945088	172945088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcacacggttctgatcaCgtcgaggggcgcgcagatcc	14	13	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:172945088C>T	uc002uhk.2	+	10	1035	c.962C>T	c.(961-963)ACG>ATG	p.T321M	MAP1D_uc010zdw.1_Missense_Mutation_p.T203M	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	321					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTTCTGATCACGTCGAGGGGC	0.622													T	172945088	C	T	172945088	3	4	275	1	0	0	0	0	1	0	0	0	9229	536	19	1	1000	1	MAP1D	2	172945088	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2516558	172945088	70254285	196	141261											
ZAK	51776	broad.mit.edu	37	chr2	174052313	174052313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttacatatggaggctcCtgtcaaggtgattcacagag	10	7	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:174052313C>T	uc002uhz.2	+	5	577	c.377C>T	c.(376-378)CCT>CTT	p.P126L	ZAK_uc002uhx.2_Missense_Mutation_p.P126L|ZAK_uc002uhy.2_Missense_Mutation_p.P126L|ZAK_uc010zei.1_Missense_Mutation_p.P25L|ZAK_uc002uia.1_Missense_Mutation_p.P126L	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	126	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			ATGGAGGCTCCTGTCAAGGTG	0.303													T	174052313	C	T	174052313	3	4	275	1	0	0	0	0	1	0	0	0	17509	681	24	4	391	4	ZAK	2	174052313	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1107225	174052313	69147060	197	141262											
TTN	7273	broad.mit.edu	37	chr2	179397303	179397303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcttcaagacgcagcCtctcttcctctgttcttttc	5	15	6	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179397303C>A	uc010zfg.1	-	307	96559	c.96335G>T	c.(96334-96336)AGG>ATG	p.R32112M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25807M|TTN_uc010zfi.1_Missense_Mutation_p.R25740M|TTN_uc010zfj.1_Missense_Mutation_p.R25615M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGACGCAGCCTCTCTTCCTC	0.463													A	179397303	C	A	179397303	3	1	275	1	0	0	0	0	1	0	0	0	16732	681	24	5	3960	5	TTN	2	179397303	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5344990	179397303	63802070	198	141263											
TTN	7273	broad.mit.edu	37	chr2	179428319	179428319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcacttggtccatctaaCgccttccttatctcgttttt	6	12	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179428319C>T	uc010zfg.1	-	275	75060	c.74836G>A	c.(74836-74838)GTT>ATT	p.V24946I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18641I|TTN_uc010zfi.1_Missense_Mutation_p.V18574I|TTN_uc010zfj.1_Missense_Mutation_p.V18449I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25873							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCATCTAACGCCTTCCTTA	0.463													T	179428319	C	T	179428319	3	4	275	1	0	0	0	0	1	0	0	0	16732	536	19	1	25587	1	TTN	2	179428319	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	31016	179428319	63771054	199	141264											
TTN	7273	broad.mit.edu	37	chr2	179457588	179457588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaacactctaaacttaTaggtttgaccgtcccgaaga	7	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179457588T>C	uc010zfg.1	-	249	51778	c.51554A>G	c.(51553-51555)TAT>TGT	p.Y17185C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y10880C|TTN_uc010zfi.1_Missense_Mutation_p.Y10813C|TTN_uc010zfj.1_Missense_Mutation_p.Y10688C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18112							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAAACTTATAGGTTTGACC	0.458													C	179457588	T	C	179457588	3	2	275	1	0	0	0	0	1	0	0	0	16732	1406	49	3	48973	3	TTN	2	179457588	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	29269	179457588	63741785	200	141265											
TTN	7273	broad.mit.edu	37	chr2	179647781	179647781	+	Frame_Shift_Del	DEL	T	T	-													caccttctatgacagtcacaTtttttaagccctgaagagag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:179647780_179647780AT>A	uc021vsy.1	-	17	3078	c.2853_2853AT>T	c.(2851-2853)aatfs	p.N951fs	TTN_uc021vsz.1_Frame_Shift_Del_p.N905fs|TTN_uc021vta.1_Frame_Shift_Del_p.N905fs|TTN_uc021vtb.1_Frame_Shift_Del_p.N905fs|TTN_uc002unb.2_Frame_Shift_Del_p.N951fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	951	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGTCACATTTTTTAAGC	0.388													-	179647781	T	-	179647781	7	5	275	1	0	1	0	1	0	0	0	0	16732	1493	52	0	108516	0	TTN	2	179647781	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	190193	179647781	63551592	201	141266											
NEUROD1	4760	broad.mit.edu	37	chr2	182542721	182542721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctcaaactcggcggaCggttcgtgtttgaaagagaa	11	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:182542721C>T	uc002uof.2	-	2	1103	c.867G>A	c.(865-867)CCG>CCA	p.P289P	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	289					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACTCGGCGGACGGTTCGTGTT	0.537													T	182542721	C	T	182542721	2	4	275	1	0	0	0	0	0	0	0	1	10348	523	19	1		1	NEUROD1	2	182542721	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2894940	182542721	60656652	202	141267											
FAM171B	165215	broad.mit.edu	37	chr2	187618752	187618752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatttggggtactggataGcagctccacttccaggaact	10	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:187618752G>A	uc002ups.2	+	6	1100	c.988G>A	c.(988-990)GCA>ACA	p.A330T	FAM171B_uc002upr.1_Missense_Mutation_p.A330T	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	330	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						GTACTGGATAGCAGCTCCACT	0.358													A	187618752	G	A	187618752	3	1	275	1	0	0	0	0	1	0	0	0	5491	971	34	2	1010	2	FAM171B	2	187618752	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5076031	187618752	55580621	203	141268											
COL3A1	1281	broad.mit.edu	37	chr2	189863442	189863442	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctggagctccaggaggcAaggtagtatttcaatttatt	10	8	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:189863442A>G	uc002uqj.1	+	29	2137	c.2020A>G	c.(2020-2022)AAG>GAG	p.K674E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	674	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			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAGGAGGCAAGGTAGTATT	0.378													G	189863442	A	G	189863442	3	3	275	1	0	0	0	0	1	0	0	0	3688	131	5	3	2134	3	COL3A1	2	189863442	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2244690	189863442	53335931	204	141269											
SLC39A10	57181	broad.mit.edu	37	chr2	196544942	196544943	+	Frame_Shift_Ins	INS	-	-	A													aagcaagctgctgaaaatgaINSaaaaaaatactatattgaaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:196544941_196544942G>GA	uc002utg.4	+	1	389_390	c.175_176G>GA	c.(175-177)gaafs	p.E59fs	SLC39A10_uc002uth.4_Frame_Shift_Ins_p.E59fs|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	59					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)			TGCTGAAAATGAAAAAAAATAC	0.381													A	196544943	-	A	196544942	7	5	275	1	0	1	1	0	0	0	0	0	14613	246	9	0	178	0	SLC39A10	2	196544942	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	6681500	196544942	46654431	205	141270											
GTF3C3	9330	broad.mit.edu	37	chr2	197650315	197650315	+	Splice_Site	DEL	A	A	-													ttggcttcatagtaactcctAaaaaaaagtggcaaaatgga					rs35643383		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:197650314_197650314TA>T	uc002uts.3	-	7	1051	c.894_splice	c.e7-1	p.K298_splice	GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	298						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						TAGTAACTCCTAAAAAAAAGT	0.323													-	197650315	A	-	197650315	8	5	275	1	0	1	0	1	0	0	1	0	6874	377	13	0		0	GTF3C3	2	197650315	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	1105373	197650315	45549058	206	141271											
GTF3C3	9330	broad.mit.edu	37	chr2	197657704	197657704	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcattttcttggtttcacgAttgagaaccatctccaatac	5	10	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:197657704A>G	uc002uts.2	-	3	477	c.387T>C	c.(385-387)AAT>AAC	p.N129N	GTF3C3_uc010zgu.1_Silent_p.N129N|GTF3C3_uc002utu.2_Silent_p.N129N	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	129						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						TGGTTTCACGATTGAGAACCA	0.259													G	197657704	A	G	197657704	2	3	275	1	0	0	0	0	0	0	0	1	6874	330	12	3		3	GTF3C3	2	197657704	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	7389	197657704	45541669	207	141272											
SGOL2	151246	broad.mit.edu	37	chr2	201436999	201436999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcatggcctaaaaaaaGgtaatttttttttcaaaacc	7	6	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:201436999G>A	uc002uvw.2	+	7	2043	c.1930G>A	c.(1930-1932)GGT>AGT	p.G644S	SGOL2_uc010zhd.1_Missense_Mutation_p.G644S|SGOL2_uc010zhe.1_Missense_Mutation_p.G644S	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	644					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						CCTAAAAAAAGGTAATTTTTT	0.338													A	201436999	G	A	201436999	3	1	275	1	0	0	0	0	1	0	0	0	14217	1000	35	4	1952	4	SGOL2	2	201436999	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3779295	201436999	41762374	208	141273											
FZD7	8324	broad.mit.edu	37	chr2	202900994	202900994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaccatgatcgtcggcAtcaccactggcttctggatc	10	12	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:202900994A>G	uc002uyw.1	+	1	1685	c.1624A>G	c.(1624-1626)ATC>GTC	p.I542V		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	542	Helical; Name=7; (Potential).				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			skin(2)|ovary(1)|breast(1)	4						GATCGTCGGCATCACCACTGG	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	202900994	A	G	202900994	3	3	275	1	0	0	0	0	1	0	0	0	6135	217	8	3	1626	3	FZD7	2	202900994	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1463995	202900994	40298379	209	141274											
BMPR2	659	broad.mit.edu	37	chr2	203383617	203383617	+	Frame_Shift_Del	DEL	T	T	-													gtccagttgctgtaaaagtgTtttcctttgcaaaccgtcag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:203383616_203383616GT>G	uc002uzf.4	+	5	1841	c.693_693GT>G	c.(691-693)gtgfs	p.V231fs	BMPR2_uc010ftr.3_Frame_Shift_Del_p.V231fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	231	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|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						CTGTAAAAGTGTTTTCCTTTG	0.413													-	203383617	T	-	203383617	7	5	275	1	0	1	0	1	0	0	0	0	1471	1725	60	0	716	0	BMPR2	2	203383617	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	482623	203383617	39815756	210	141275											
NDUFS1	4719	broad.mit.edu	37	chr2	207006766	207006768	+	In_Frame_Del	DEL	AAG	AAG	-													acaccagcaattgtagtattAagaagataattggaacgcaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:207006765_207006767TAAG>T	uc010ziq.2	-	11	1263_1265	c.1202_1204CTTA>A	c.(1201-1206)cttaat>cAat	p.401_402LN>Q	NDUFS1_uc002vbe.3_In_Frame_Del_p.387_388LN>Q|NDUFS1_uc010zir.2_In_Frame_Del_p.351_352LN>Q|NDUFS1_uc010zis.2_In_Frame_Del_p.330_331LN>Q|NDUFS1_uc010zit.2_In_Frame_Del_p.276_277LN>Q|NDUFS1_uc010ziu.2_In_Frame_Del_p.271_272LN>Q	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	387					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ATTGTAGTATTAAGAAGATAATT	0.345													-	207006768	AAG	-	207006766	7	5	275	1	0	1	0	1	0	0	0	0	10291	349	13	0	1054	0	NDUFS1	2	207006766	In_Frame_Del	DEL	AAG	TCGA-HU-A4GX-01A-12D-A25D-08	3623149	207006766	36192607	211	141276											
PTH2R	5746	broad.mit.edu	37	chr2	209358139	209358139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtggcggccagcacaCgcatggtgcttatctctggc	13	13	1	0	rs149793388		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:209358139C>T	uc002vdb.2	+	13	1621	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C	PTH2R_uc010zjb.1_Missense_Mutation_p.R481C|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	470	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGCCAGCACACGCATGGTGCT	0.592													T	209358139	C	T	209358139	3	4	275	1	0	0	0	0	1	0	0	0	12760	536	19	1	1458	1	PTH2R	2	209358139	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2351373	209358139	33841234	212	141277											
MAP2	4133	broad.mit.edu	37	chr2	210570356	210570356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctctcccaagaccttcctCcattctccctcctcggcgag	5	19	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:210570356C>T	uc002vde.1	+	11	4885	c.4637C>T	c.(4636-4638)TCC>TTC	p.S1546F	MAP2_uc002vdd.1_Missense_Mutation_p.S247F|MAP2_uc002vdf.1_Missense_Mutation_p.S190F|MAP2_uc002vdg.1_Missense_Mutation_p.S190F|MAP2_uc002vdh.1_Missense_Mutation_p.S247F|MAP2_uc002vdi.1_Missense_Mutation_p.S1542F	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1546					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	AGACCTTCCTCCATTCTCCCT	0.483													T	210570356	C	T	210570356	3	4	275	1	0	0	0	0	1	0	0	0	9235	855	30	4	4842	4	MAP2	2	210570356	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1212217	210570356	32629017	213	141278											
CPS1	1373	broad.mit.edu	37	chr2	211457661	211457661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccacccagaggtcacccCggggccaatagacactgagg	12	14	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:211457661C>T	uc002vee.3	+	11	1277	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L	CPS1_uc010fur.2_Missense_Mutation_p.P388L|CPS1_uc010fus.2_5'Flank	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	382	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			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAGGTCACCCCGGGGCCAATA	0.408													T	211457661	C	T	211457661	3	4	275	1	0	0	0	0	1	0	0	0	3823	652	23	1	1209	1	CPS1	2	211457661	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	887305	211457661	31741712	214	141279											
ABCA12	26154	broad.mit.edu	37	chr2	215872505	215872505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaattcatgaaaagtggCgacttatccatccactcttg	8	9	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:215872505C>T	uc002vew.2	-	19	2758	c.2538G>A	c.(2536-2538)TCG>TCA	p.S846S	ABCA12_uc002vev.2_Silent_p.S528S|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	846					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		TGAAAAGTGGCGACTTATCCA	0.383													T	215872505	C	T	215872505	2	4	275	1	0	0	0	0	0	0	0	1	30	755	27	1		1	ABCA12	2	215872505	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4414844	215872505	27326868	215	141280											
ABCA12	26154	broad.mit.edu	37	chr2	215890463	215890463	+	Frame_Shift_Del	DEL	T	T	-													gaaccattgcgaagaaaagaTtttttaaatcgtattgtgga					rs145481860		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:215890463delT	uc002vew.2	-	11	1441	c.1221delA	c.(1219-1221)AAAfs	p.K407fs	ABCA12_uc002vev.2_Frame_Shift_Del_p.K89fs|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	407					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		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)		GAAGAAAAGATTTTTTAAATC	0.328													-	215890463	T	-	215890463	7	5	275	1	0	1	0	1	0	0	0	0	30	1490	52	0	6738	0	ABCA12	2	215890463	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	17958	215890463	27308910	216	141281											
TNS1	7145	broad.mit.edu	37	chr2	218696225	218696225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttgtgaggtttcaggCccagagcagacaggggtgtc	17	8	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:218696225C>T	uc002vgt.2	-	20	3349	c.2951G>A	c.(2950-2952)GGC>GAC	p.G984D	TNS1_uc002vgr.2_Missense_Mutation_p.G984D|TNS1_uc002vgs.2_Missense_Mutation_p.G984D|TNS1_uc010zjv.1_Missense_Mutation_p.G984D	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	984						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		AGGTTTCAGGCCCAGAGCAGA	0.652													T	218696225	C	T	218696225	3	4	275	1	0	0	0	0	1	0	0	0	16340	739	26	2	2312	2	TNS1	2	218696225	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2805762	218696225	24503148	217	141282											
CXCR1	3577	broad.mit.edu	37	chr2	219028909	219028909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagagacattgacagaCgaagaagtgtaggaggtaac	14	4	0	4	rs144791200	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219028909C>T	uc002vhc.2	-	2	1145	c.1026G>A	c.(1024-1026)TCG>TCA	p.S342S		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	342	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						CATTGACAGACGAAGAAGTGT	0.468													T	219028909	C	T	219028909	2	4	275	1	0	0	0	0	0	0	0	1	4090	523	19	1		1	CXCR1	2	219028909	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	332684	219028909	24170464	218	141283											
VIL1	7429	broad.mit.edu	37	chr2	219294155	219294155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcagggagctgaaggcgGccgtgcccgacacggtggtg	19	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219294155G>A	uc002via.2	+	7	780	c.715G>A	c.(715-717)GCC>ACC	p.A239T	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Missense_Mutation_p.A239T|VIL1_uc002vic.1_Missense_Mutation_p.A239T	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	239	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			ovary(1)	1		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)		GCTGAAGGCGGCCGTGCCCGA	0.637													A	219294155	G	A	219294155	3	1	275	1	0	0	0	0	1	0	0	0	17161	1203	42	2	737	2	VIL1	2	219294155	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	265246	219294155	23905218	219	141284											
PLCD4	84812	broad.mit.edu	37	chr2	219498840	219498840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttacaggcaatgagtttgTgcagcacaatacttggcagt	10	7	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219498840T>C	uc002vij.1	+	12	1814	c.1619T>C	c.(1618-1620)GTG>GCG	p.V540A	PLCD4_uc010zkk.1_3'UTR	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	540	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AATGAGTTTGTGCAGCACAAT	0.532													C	219498840	T	C	219498840	3	2	275	1	0	0	0	0	1	0	0	0	12033	1696	59	3	1661	3	PLCD4	2	219498840	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	204685	219498840	23700533	220	141285											
FEV	54738	broad.mit.edu	37	chr2	219846895	219846895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgaactcgccgtgacCgccctcccacgcgatgcagc	11	17	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219846895C>A	uc002vji.1	-	3	793	c.211G>T	c.(211-213)GGT>TGT	p.G71C		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	71	ETS.				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCCGTGACCGCCCTCCCAC	0.692			T	EWSR1| FUS	Ewing sarcoma								A	219846895	C	A	219846895	3	1	275	1	0	0	0	0	1	0	0	0	5822	652	23	5	509	5	FEV	2	219846895	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	348055	219846895	23352478	221	141286											
IHH	3549	broad.mit.edu	37	chr2	219920566	219920566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagggaagcagccgcccGtcttggctgcggccgagtgc	17	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:219920566G>A	uc002vjo.1	-	3	599	c.599C>T	c.(598-600)ACG>ATG	p.T200M		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	200					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		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)		GCAGCCGCCCGTCTTGGCTGC	0.672													A	219920566	G	A	219920566	3	1	275	1	0	0	0	0	1	0	0	0	7607	1145	40	1	640	1	IHH	2	219920566	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	73671	219920566	23278807	222	141287											
CHPF	79586	broad.mit.edu	37	chr2	220405701	220405701	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcctggtacgtgcgttcCagttcagctcgggcgaaagc	12	12	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220405701C>A	uc002vmc.3	-	3	1262	c.1035G>T	c.(1033-1035)CTG>CTT	p.L345L	CHPF_uc010zlh.1_Silent_p.L183L|TMEM198_uc002vme.2_5'Flank	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	345	Lumenal (Potential).					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				0		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)		ACGTGCGTTCCAGTTCAGCTC	0.587													A	220405701	C	A	220405701	2	1	275	1	0	0	0	0	0	0	0	1	3368	581	21	5		5	CHPF	2	220405701	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	485135	220405701	22793672	223	141288											
OBSL1	23363	broad.mit.edu	37	chr2	220427220	220427220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgggcagcaccaggcggcGgacagtgtcttccttctgca	14	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220427220G>A	uc010fwk.2	-	8	2914	c.2857C>T	c.(2857-2859)CGC>TGC	p.R953C	OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.1_Missense_Mutation_p.R428C|OBSL1_uc002vmi.2_Missense_Mutation_p.R953C|OBSL1_uc002vmj.2_Missense_Mutation_p.R540C	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	953	Ig-like 7.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		ACCAGGCGGCGGACAGTGTCT	0.632													A	220427220	G	A	220427220	3	1	275	1	0	0	0	0	1	0	0	0	10813	1116	39	1	3041	1	OBSL1	2	220427220	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	21519	220427220	22772153	224	141289											
OBSL1	23363	broad.mit.edu	37	chr2	220428091	220428091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacctgtgatggtgacaGtgaagtaggcacactcatct	10	12	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220428091G>A	uc010fwk.2	-	7	2723	c.2666C>T	c.(2665-2667)ACT>ATT	p.T889I	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.T364I|OBSL1_uc002vmi.2_Missense_Mutation_p.T889I|OBSL1_uc002vmj.2_Missense_Mutation_p.T476I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	889	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		GATGGTGACAGTGAAGTAGGC	0.667													A	220428091	G	A	220428091	3	1	275	1	0	0	0	0	1	0	0	0	10813	1029	36	4	3236	4	OBSL1	2	220428091	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	871	220428091	22771282	225	141290											
STK11IP	114790	broad.mit.edu	37	chr2	220476441	220476441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtctctggctccttctccGtctgccagccctgtctgcca	8	18	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:220476441G>A	uc002vml.2	+	18	2296	c.2253G>A	c.(2251-2253)CCG>CCA	p.P751P		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	751					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		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)		CTCCTTCTCCGTCTGCCAGCC	0.617													A	220476441	G	A	220476441	2	1	275	1	0	0	0	0	0	0	0	1	15287	1132	40	1		1	STK11IP	2	220476441	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	48350	220476441	22722932	226	141291											
PAX3	5077	broad.mit.edu	37	chr2	223161807	223161807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagctggcgcgagatgaCgcagggccggatgccgtggt	19	11	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:223161807C>T	uc010fwo.2	-	2	577	c.211G>A	c.(211-213)GTC>ATC	p.V71I	PAX3_uc002vmt.1_Missense_Mutation_p.V71I|PAX3_uc002vmy.1_Missense_Mutation_p.V71I|PAX3_uc002vmv.1_Missense_Mutation_p.V71I|PAX3_uc002vmw.1_Missense_Mutation_p.V71I|PAX3_uc002vmx.1_Missense_Mutation_p.V71I|PAX3_uc002vmz.1_Missense_Mutation_p.V71I|PAX3_uc002vna.1_Missense_Mutation_p.V71I|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	71	Paired.				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/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		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)		CGCGAGATGACGCAGGGCCGG	0.647			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223161807	C	T	223161807	3	4	275	1	0	0	0	0	1	0	0	0	11480	536	19	1	1471	1	PAX3	2	223161807	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2685366	223161807	20037566	227	141292											
DOCK10	55619	broad.mit.edu	37	chr2	225669993	225669993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctgcttgatctaacttGtcaaatcgaagagttgagcc	9	8	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:225669993G>A	uc010fwz.1	-	36	4220	c.3981C>T	c.(3979-3981)GAC>GAT	p.D1327D	DOCK10_uc002vob.2_Silent_p.D1321D|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Silent_p.D181D	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1327							GTP binding			ovary(2)	2		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)		GATCTAACTTGTCAAATCGAA	0.388													A	225669993	G	A	225669993	2	1	275	1	0	0	0	0	0	0	0	1	4685	1368	48	4		4	DOCK10	2	225669993	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2508186	225669993	17529380	228	141293											
DOCK10	55619	broad.mit.edu	37	chr2	225750838	225750838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccccttgtagagccagccgGacttgaaaacaccagttcct	8	14	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:225750838G>A	uc010fwz.1	-	6	793	c.554C>T	c.(553-555)TCC>TTC	p.S185F	DOCK10_uc002vob.2_Missense_Mutation_p.S179F|DOCK10_uc002vod.1_Missense_Mutation_p.S185F	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	185	PH.						GTP binding			ovary(2)	2		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)		GAGCCAGCCGGACTTGAAAAC	0.498													A	225750838	G	A	225750838	3	1	275	1	0	0	0	0	1	0	0	0	4685	1174	41	4	6210	4	DOCK10	2	225750838	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	80845	225750838	17448535	229	141294											
TM4SF20	79853	broad.mit.edu	37	chr2	228228611	228228611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatcgaagtggaaactAgatgctctccagccactcgc	9	12	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:228228611A>G	uc002vpb.2	-	4	557	c.519T>C	c.(517-519)TCT>TCC	p.S173S		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	173	Extracellular (Potential).					integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AGTGGAAACTAGATGCTCTCC	0.443													G	228228611	A	G	228228611	2	3	275	1	0	0	0	0	0	0	0	1	15966	407	15	3		3	TM4SF20	2	228228611	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2477773	228228611	14970762	230	141295											
SP100	6672	broad.mit.edu	37	chr2	231379990	231379990	+	Frame_Shift_Del	DEL	A	A	-													atatccctcctaaaggggagAaaaaaaagaagttcaaggat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:231379989_231379989GA>G	uc002vqt.3	+	24	2415	c.2274_2274GA>G	c.(2272-2274)gagfs	p.E758fs	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	758					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|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	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain 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)		CTAAAGGGGAGAAAAAAAAGA	0.418													-	231379990	A	-	231379990	7	5	275	1	0	1	0	1	0	0	0	0	14960	247	9	0	2373	0	SP100	2	231379990	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	3151379	231379990	11819383	231	141296											
B3GNT7	93010	broad.mit.edu	37	chr2	232262822	232262823	+	Frame_Shift_Ins	INS	-	-	G													aaccacccggagaagtgcagINSgggcgatgtctacctgctgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:232262821_232262822A>AG	uc002vrs.3	+	1	571_572	c.391_392A>AG	c.(391-393)aggfs	p.R131fs		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	131					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)		GGAGAAGTGCAGGGGCGATGTC	0.663													G	232262823	-	G	232262822	7	5	275	1	0	1	1	0	0	0	0	0	1262	1000	35	0	398	0	B3GNT7	2	232262822	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	882832	232262822	10936551	232	141297											
ESPNL	339768	broad.mit.edu	37	chr2	239016577	239016577	+	Frame_Shift_Del	DEL	C	C	-													gagagactcctggggtgggaCccccctccacgacgcagcag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:239016577delC	uc002vxq.3	+	4	928	c.818delC	c.(817-819)ACCfs	p.T273fs	ESPNL_uc010fyw.2_Frame_Shift_Del_p.T13fs	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	273	ANK 9.									pancreas(1)	1		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)		TGGGGTGGGACCCCCCTCCAC	0.542													-	239016577	C	-	239016577	7	5	275	1	0	1	0	1	0	0	0	0	5255	507	18	0	832	0	ESPNL	2	239016577	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	6753755	239016577	4182796	233	141298											
HDAC4	9759	broad.mit.edu	37	chr2	240036871	240036871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcacgccggcctgtgCgtgcgcctccttctgccccg	11	20	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:240036871C>T	uc002vyk.3	-	13	2446	c.1654G>A	c.(1654-1656)GCA>ACA	p.A552T	HDAC4_uc010fyz.1_Missense_Mutation_p.A547T|HDAC4_uc010zoa.1_Missense_Mutation_p.A552T|HDAC4_uc010fza.2_Missense_Mutation_p.A557T|HDAC4_uc010fyy.2_Missense_Mutation_p.A509T|HDAC4_uc010znz.1_Missense_Mutation_p.A435T	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	552					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			breast(3)|skin(2)|ovary(1)	6		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)		CCGGCCTGTGCGTGCGCCTCC	0.701													T	240036871	C	T	240036871	3	4	275	1	0	0	0	0	1	0	0	0	7009	768	27	1	1660	1	HDAC4	2	240036871	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1020294	240036871	3162502	234	141299											
OR6B3	150681	broad.mit.edu	37	chr2	240984626	240984626	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttattcctcaggcagtatatCaaggggttcaagatgggggt	13	6	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:240984626C>T	uc010zoe.1	-	1	864	c.864G>A	c.(862-864)TTG>TTA	p.L288L	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		GGCAGTATATCAAGGGGTTCA	0.488													T	240984626	C	T	240984626	2	4	275	1	0	0	0	0	0	0	0	1	11189	825	29	4		4	OR6B3	2	240984626	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	947755	240984626	2214747	235	141300											
MYEOV2	150678	broad.mit.edu	37	chr2	241069366	241069366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctctgctgccttcccacGgaccccgtgctccgactgcc	9	21	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:241069366G>A	uc002vyu.1	-	4	343	c.343C>T	c.(343-345)CGT>TGT	p.R115C		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCCTTCCCACGGACCCCGTGC	0.622													A	241069366	G	A	241069366	3	1	275	1	0	0	0	0	1	0	0	0	10026	1116	39	1	423	1	MYEOV2	2	241069366	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	84740	241069366	2130007	236	141301											
KIF1A	547	broad.mit.edu	37	chr2	241708580	241708580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatacgcccaaggtgccGccatcctccctcatggccac	9	17	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:241708580G>A	uc002vzy.2	-	16	1586	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G	KIF1A_uc010fzk.2_Silent_p.G489G|KIF1A_uc002vzz.1_Silent_p.G489G	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	480					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		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)		CCAAGGTGCCGCCATCCTCCC	0.587													A	241708580	G	A	241708580	2	1	275	1	0	0	0	0	0	0	0	1	8283	1074	38	1		1	KIF1A	2	241708580	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	639214	241708580	1490793	237	141302											
STK25	10494	broad.mit.edu	37	chr2	242438753	242438753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgttcctcttaatctgCgtgtctgtgagctgccctgc	10	11	3	1	rs146698482		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr2:242438753C>T	uc002wbm.2	-	5	775	c.504G>A	c.(502-504)ACG>ACA	p.T168T	STK25_uc002wbk.2_5'UTR|STK25_uc002wbl.2_5'UTR|STK25_uc002wbn.2_Silent_p.T168T|STK25_uc002wbo.2_Silent_p.T91T|STK25_uc010zos.1_Silent_p.T74T|STK25_uc010zot.1_Silent_p.T94T|STK25_uc002wbp.2_Silent_p.T168T|STK25_uc010fzo.2_Silent_p.T91T|STK25_uc010zou.1_Silent_p.T74T|STK25_uc010zov.1_Silent_p.T74T	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	168	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		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)		TCTTAATCTGCGTGTCTGTGA	0.612													T	242438753	C	T	242438753	2	4	275	1	0	0	0	0	0	0	0	1	15293	755	27	1		1	STK25	2	242438753	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	730173	242438753	760620	238	141303											
CHL1	10752	broad.mit.edu	37	chr3	436506	436506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggcttgcacttcacaGggctgtggaaaaccgatcac	12	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:436506G>T	uc003bou.2	+	23	3268	c.2997G>T	c.(2995-2997)CAG>CAT	p.Q999H	CHL1_uc003bot.2_Missense_Mutation_p.Q1015H|CHL1_uc003bow.1_Missense_Mutation_p.Q999H|CHL1_uc011asi.1_Missense_Mutation_p.Q1015H	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	999	Fibronectin type-III 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		GCACTTCACAGGGCTGTGGAA	0.438													T	436506	G	T	436506	3	4	275	1	0	0	0	0	1	0	0	0	3349	991	35	5	3131	5	CHL1	3	436506	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		436506	197585924	239	141304											
LRRN1	57633	broad.mit.edu	37	chr3	3888033	3888033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgataaccctcacataacaTatactgccagggtcccagtc	6	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:3888033T>C	uc003bpt.3	+	2	2469	c.1708T>C	c.(1708-1710)TAT>CAT	p.Y570H	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	570	Fibronectin type-III.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCACATAACATATACTGCCAG	0.428													C	3888033	T	C	3888033	3	2	275	1	0	0	0	0	1	0	0	0	9034	1406	49	3	1710	3	LRRN1	3	3888033	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	3451527	3888033	194134397	240	141305											
THUMPD3	25917	broad.mit.edu	37	chr3	9426301	9426301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttacgttctgatacgtAcacctcaagcttttgttcat	6	10	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:9426301A>G	uc003bro.3	+	10	1601	c.1453A>G	c.(1453-1455)ACA>GCA	p.T485A	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.T485A	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	485							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TCTGATACGTACACCTCAAGC	0.453													G	9426301	A	G	9426301	3	3	275	1	0	0	0	0	1	0	0	0	15881	391	14	3	1487	3	THUMPD3	3	9426301	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	5538268	9426301	188596129	241	141306											
CAND2	23066	broad.mit.edu	37	chr3	12856866	12856866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcaaacacagcccccgaaGggatggctggaggccatgga	15	12	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:12856866G>T	uc003bxk.2	+	8	1282	c.1233G>T	c.(1231-1233)AAG>AAT	p.K411N	CAND2_uc003bxj.2_Missense_Mutation_p.K318N	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	411					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						AGCCCCCGAAGGGATGGCTGG	0.617													T	12856866	G	T	12856866	3	4	275	1	0	0	0	0	1	0	0	0	2616	991	35	5	1263	5	CAND2	3	12856866	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3430565	12856866	185165564	242	141307											
HDAC11	79885	broad.mit.edu	37	chr3	13546059	13546059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcgggtaccagaagcGcacagcccgcatcattgctg	12	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:13546059G>A	uc003bxy.2	+	10	1053	c.920G>A	c.(919-921)CGC>CAC	p.R307H	HDAC11_uc010heb.2_3'UTR|HDAC11_uc011aux.1_Missense_Mutation_p.R115H|HDAC11_uc011auy.1_Missense_Mutation_p.R256H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	307	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			ovary(2)	2						TACCAGAAGCGCACAGCCCGC	0.607													A	13546059	G	A	13546059	3	1	275	1	0	0	0	0	1	0	0	0	7006	1087	38	1	958	1	HDAC11	3	13546059	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	689193	13546059	184476371	243	141308											
FBLN2	2199	broad.mit.edu	37	chr3	13612417	13612417	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctcagatgccgaggagggtGaccccgagcgacactacgaa	13	12	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:13612417G>A	uc011avb.1	+	2	687	c.562G>A	c.(562-564)GAC>AAC	p.D188N	FBLN2_uc011auz.1_Missense_Mutation_p.D214N|FBLN2_uc011ava.1_Missense_Mutation_p.D188N|FBLN2_uc011avc.1_Missense_Mutation_p.D188N	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	188	Subdomain NB (Cys-free).|N.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGAGGAGGGTGACCCCGAGCG	0.672													A	13612417	G	A	13612417	3	1	275	1	0	0	0	0	1	0	0	0	5699	1290	45	4		4	FBLN2	3	13612417	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	66358	13612417	184410013	244	141309											
GRIP2	80852	broad.mit.edu	37	chr3	14563212	14563212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcactgccgcagggtggCcagggcggtggcatggctgg	20	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:14563212C>A	uc011avi.1	-	8	940	c.940G>T	c.(940-942)GCC>TCC	p.A314S	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	217	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CGCAGGGTGGCCAGGGCGGTG	0.662													A	14563212	C	A	14563212	3	1	275	1	0	0	0	0	1	0	0	0	6788	739	26	5	2556	5	GRIP2	3	14563212	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	950795	14563212	183459218	245	141310											
SATB1	6304	broad.mit.edu	37	chr3	18393520	18393520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacatggataatgtggggCggcctgtcgccatggtgatg	17	7	0	1	rs147456964	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:18393520C>T	uc003cbh.2	-	10	3478	c.1743G>A	c.(1741-1743)CCG>CCA	p.P581P	SATB1_uc003cbi.2_Silent_p.P581P|SATB1_uc003cbj.2_Silent_p.P581P	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	581					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TAATGTGGGGCGGCCTGTCGC	0.473													T	18393520	C	T	18393520	2	4	275	1	0	0	0	0	0	0	0	1	13853	755	27	1		1	SATB1	3	18393520	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3830308	18393520	179628910	246	141311											
SLC4A7	9497	broad.mit.edu	37	chr3	27460061	27460061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagttacttgatctaaaaaTtcatcaattccagataagag	5	7	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:27460061T>A	uc003cdv.2	-	11	1619	c.1548A>T	c.(1546-1548)GAA>GAT	p.E516D	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.E397D|SLC4A7_uc011aww.1_Missense_Mutation_p.E525D|SLC4A7_uc011awx.1_Missense_Mutation_p.E512D|SLC4A7_uc011awy.1_Missense_Mutation_p.E508D|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.E397D|SLC4A7_uc011axb.1_Missense_Mutation_p.E512D|SLC4A7_uc010hfl.2_Missense_Mutation_p.E66D|SLC4A7_uc003cdw.2_Missense_Mutation_p.E392D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	516	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						GATCTAAAAATTCATCAATTC	0.353													A	27460061	T	A	27460061	3	1	275	1	0	0	0	0	1	0	0	0	14658	1490	52	5	2156	5	SLC4A7	3	27460061	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	9066541	27460061	170562369	247	141312											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32574559	32574559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattttcatgtaatattccTattttcttatcattatccca	1	8	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:32574559T>C	uc003cfb.3	-	8	1087	c.999A>G	c.(997-999)ATA>ATG	p.I333M	DYNC1LI1_uc011axh.1_Missense_Mutation_p.I217M	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	333					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						GTAATATTCCTATTTTCTTAT	0.294													C	32574559	T	C	32574559	3	2	275	1	0	0	0	0	1	0	0	0	4844	1512	53	3	596	3	DYNC1LI1	3	32574559	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	5114498	32574559	165447871	248	141313											
STAC	6769	broad.mit.edu	37	chr3	36534721	36534721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaggaaacgcagcaacagcGgtgagtgagggagttggcac	16	7	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:36534721G>T	uc003cgh.1	+	6	805	c.766G>T	c.(766-768)GTG>TTG	p.V256L	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.V195L	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	256					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						CAGCAACAGCGGTGAGTGAGG	0.532													T	36534721	G	T	36534721	3	4	275	1	0	0	0	0	1	0	0	0	15238	1130	39	5	788	5	STAC	3	36534721	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3960162	36534721	161487709	249	141314											
DCLK3	85443	broad.mit.edu	37	chr3	36779171	36779171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgttctcttctggcctcGtcttgggctccttttctagc	9	13	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:36779171G>A	uc003cgi.2	-	2	1471	c.980C>T	c.(979-981)ACG>ATG	p.T327M		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	327						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						TTCTGGCCTCGTCTTGGGCTC	0.552													A	36779171	G	A	36779171	3	1	275	1	0	0	0	0	1	0	0	0	4293	1145	40	1	982	1	DCLK3	3	36779171	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	244450	36779171	161243259	250	141315											
TRANK1	9881	broad.mit.edu	37	chr3	36872364	36872364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctctgcagacccttacCgccagcccaggccttccgcc	7	21	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:36872364C>T	uc003cgj.2	-	12	7230	c.6928G>A	c.(6928-6930)GCG>ACG	p.A2310T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2860					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AGACCCTTACCGCCAGCCCAG	0.577													T	36872364	C	T	36872364	3	4	275	1	0	0	0	0	1	0	0	0	16451	666	23	1	211	1	TRANK1	3	36872364	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	93193	36872364	161150066	251	141316											
PLCD1	5333	broad.mit.edu	37	chr3	38051523	38051523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggttctccagggataGgatgacagggtagggggacg	19	6	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:38051523G>A	uc003chn.2	-	8	1283	c.1159C>T	c.(1159-1161)CTA>TTA	p.L387L	PLCD1_uc003chm.2_Silent_p.L408L	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	387	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCCAGGGATAGGATGACAGGG	0.647													A	38051523	G	A	38051523	2	1	275	1	0	0	0	0	0	0	0	1	12031	991	35	4		4	PLCD1	3	38051523	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1179159	38051523	159970907	252	141317											
SCN10A	6336	broad.mit.edu	37	chr3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaaaacattaccaagCggaagctccgcagcacagac	9	11	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:38781010C>T	uc003ciq.2	-	14	2276	c.2276G>A	c.(2275-2277)CGC>CAC	p.R759H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	759	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	CATTACCAAGCGGAAGCTCCG	0.547													T	38781010	C	T	38781010	3	4	275	1	0	0	0	0	1	0	0	0	13912	768	27	1	3650	1	SCN10A	3	38781010	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	729487	38781010	159241420	253	141318											
SCN10A	6336	broad.mit.edu	37	chr3	38781162	38781162	+	Frame_Shift_Del	DEL	A	A	-													ttgaagaccatttcagcagtAaaaaatatggtaaagaccta							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:38781162delA	uc003ciq.2	-	14	2124	c.2124delT	c.(2122-2124)TTTfs	p.F708fs		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	708	Helical; Name=S2 of repeat II; (Potential).|II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	TTTCAGCAGTAAAAAATATGG	0.408													-	38781162	A	-	38781162	7	5	275	1	0	1	0	1	0	0	0	0	13912	359	13	0	3802	0	SCN10A	3	38781162	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	152	38781162	159241268	254	141319											
PLXNB1	5364	broad.mit.edu	37	chr3	48455445	48455445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctatcatagccaccacCtcctccttggacattgcaag	5	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:48455445C>A	uc003csw.2	-	22	4515	c.4245G>T	c.(4243-4245)GAG>GAT	p.E1415D	PLXNB1_uc003cst.2_Translation_Start_Site|PLXNB1_uc003csu.2_Missense_Mutation_p.E1232D|PLXNB1_uc003csx.2_Missense_Mutation_p.E1415D|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1415	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGCCACCACCTCCTCCTTGG	0.627													A	48455445	C	A	48455445	3	1	275	1	0	0	0	0	1	0	0	0	12123	680	24	5	2230	5	PLXNB1	3	48455445	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9674283	48455445	149566985	255	141320											
RBM5	10181	broad.mit.edu	37	chr3	50129622	50129622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatagatatgatgactaccGagactatgacagtccagagg	11	7	0	7			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:50129622G>A	uc003cyg.2	+	3	312	c.164G>A	c.(163-165)CGA>CAA	p.R55Q	RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA|RBM5_uc003cyf.2_Missense_Mutation_p.R55Q|RBM5_uc011bdj.1_Missense_Mutation_p.E33K|RBM5_uc011bdk.1_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	55					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			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATGACTACCGAGACTATGAC	0.468													A	50129622	G	A	50129622	3	1	275	1	0	0	0	0	1	0	0	0	13143	1058	37	1	170	1	RBM5	3	50129622	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1674177	50129622	147892808	256	141321											
NAT6	24142	broad.mit.edu	37	chr3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggcccagggagtgcaggCgggaggtgcggctgcggggc	22	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:50334626C>T	uc003czi.2	-	2	372	c.269G>A	c.(268-270)CGC>CAC	p.R90H	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Missense_Mutation_p.R112H|NAT6_uc003czk.3_Missense_Mutation_p.R90H|NAT6_uc003czl.1_Missense_Mutation_p.R90H	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	90	N-acetyltransferase.					cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647													T	50334626	C	T	50334626	3	4	275	1	0	0	0	0	1	0	0	0	10178	768	27	1	595	1	NAT6	3	50334626	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	205004	50334626	147687804	257	141322											
GRM2	2912	broad.mit.edu	37	chr3	51743432	51743432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttattggcggttcctacAgtgatgtctccatccaggta	11	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:51743432A>G	uc010hlv.2	+	2	672	c.433A>G	c.(433-435)AGT>GGT	p.S145G	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	145	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	CGGTTCCTACAGTGATGTCTC	0.597													G	51743432	A	G	51743432	3	3	275	1	0	0	0	0	1	0	0	0	6797	188	7	3	435	3	GRM2	3	51743432	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1408806	51743432	146278998	258	141323											
GRM2	2912	broad.mit.edu	37	chr3	51747011	51747011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggcctcctaccccatcAgtgactttgcctcctacttc	6	17	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:51747011A>G	uc010hlv.2	+	3	1212	c.973A>G	c.(973-975)AGT>GGT	p.S325G	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	325	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	CTACCCCATCAGTGACTTTGC	0.622													G	51747011	A	G	51747011	3	3	275	1	0	0	0	0	1	0	0	0	6797	188	7	3	979	3	GRM2	3	51747011	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	3579	51747011	146275419	259	141324											
RRP9	9136	broad.mit.edu	37	chr3	51969657	51969657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attccacaccttcacggagcGatcgtgggatgtgctgtaga	12	10	1	1	rs140029162	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:51969657G>A	uc003dbw.1	-	9	826	c.787C>T	c.(787-789)CGC>TGC	p.R263C		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	263	WD 3.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTCACGGAGCGATCGTGGGAT	0.602													A	51969657	G	A	51969657	3	1	275	1	0	0	0	0	1	0	0	0	13691	1058	37	1	668	1	RRP9	3	51969657	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	222646	51969657	146052773	260	141325											
DNAH1	25981	broad.mit.edu	37	chr3	52425268	52425268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatggagaacgccatccGctttggcaagccatgtctcc	10	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:52425268G>A	uc011bef.1	+	62	10076	c.9815G>A	c.(9814-9816)CGC>CAC	p.R3272H	DNAH1_uc003ddv.2_Missense_Mutation_p.R130H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3337	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			large_intestine(3)	3				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)		AACGCCATCCGCTTTGGCAAG	0.587													A	52425268	G	A	52425268	3	1	275	1	0	0	0	0	1	0	0	0	4597	1087	38	1	10057	1	DNAH1	3	52425268	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	455611	52425268	145597162	261	141326											
BAP1	8314	broad.mit.edu	37	chr3	52443937	52443937	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgccatgtccaggccctccCtccccaccgctgcccccacc	7	25	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:52443937C>A	uc003ddx.2	-	1	73	c.-42G>T	c.(-44--40)GAGGG>GATGG		PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1						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			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				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)		CAGGCCCTCCCTCCCCACCGC	0.756			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								A	52443937	C	A	52443937	1	1	275	1	0	0	0	0	0	0	0	0	1311	696	24	5		5	BAP1	3	52443937	Translation_Start_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	18669	52443937	145578493	262	141327											
PBRM1	55193	broad.mit.edu	37	chr3	52643771	52643771	+	Frame_Shift_Del	DEL	T	T	-													ggccatcatgtgacttcgaaTtttttccatgtccatgggct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:52643770_52643770AT>A	uc003des.2	-	15	2138	c.2126_2126AT>T	c.(2125-2127)attfs	p.I709fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.I709fs|PBRM1_uc003der.2_Frame_Shift_Del_p.I677fs|PBRM1_uc003det.2_Frame_Shift_Del_p.I724fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.I724fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.I709fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.I709fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.I709fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.I709fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.I622fs|PBRM1_uc003dfa.1_Frame_Shift_Del_p.I55fs|PBRM1_uc003dfc.3_Frame_Shift_Del_p.I76fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	709	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.I709T(3)|p.I677T(1)|p.K708fs*14(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)		GTGACTTCGAATTTTTTCCAT	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52643771	T	-	52643771	7	5	275	1	0	1	0	1	0	0	0	0	11491	1493	52	0	2835	0	PBRM1	3	52643771	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	199834	52643771	145378659	263	141328											
CACNA1D	776	broad.mit.edu	37	chr3	53845218	53845218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaacacgaaatcgctgatGcctgtgacctcaccatcgac	7	14	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:53845218G>A	uc003dgv.3	+	48	6434	c.6271G>A	c.(6271-6273)GCC>ACC	p.A2091T	CACNA1D_uc003dgu.3_Missense_Mutation_p.A2111T|CACNA1D_uc003dgy.3_Missense_Mutation_p.A2067T|CACNA1D_uc003dgw.3_Missense_Mutation_p.A1758T|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2091	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				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)	AATCGCTGATGCCTGTGACCT	0.552													A	53845218	G	A	53845218	3	1	275	1	0	0	0	0	1	0	0	0	2541	1319	46	2	6633	2	CACNA1D	3	53845218	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1201447	53845218	144177212	264	141329											
FAM116A	201627	broad.mit.edu	37	chr3	57619023	57619023	+	Frame_Shift_Del	DEL	A	A	-													tgaaactttgtgtcagttccAaaaaatagcgtcgaagaata							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:57619022_57619022CA>C	uc003dja.3	-	14	1394	c.1323_1323TG>G	c.(1321-1323)ttgfs	p.L441fs		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	441								p.L441fs*3(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GTGTCAGTTCCAAAAAATAGC	0.333													-	57619023	A	-	57619023	7	5	275	1	0	1	0	1	0	0	0	0	5407	131	5	0	528	0	FAM116A	3	57619023	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	3773805	57619023	140403407	265	141330											
FLNB	2317	broad.mit.edu	37	chr3	58067448	58067449	+	Frame_Shift_Ins	INS	-	-	G													ccaaagccaagctcaagccgINSggggctcctctcaaacccaa					rs140037128		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:58067447_58067448C>CG	uc003djj.2	+	3	896_897	c.731_732C>CG	c.(730-732)ccgfs	p.P244fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.P244fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.P244fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.P244fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.P75fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.P75fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	244					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)		AAGCTCAAGCCGGGGGCTCCTC	0.53													G	58067449	-	G	58067448	7	5	275	1	0	1	1	0	0	0	0	0	5934	1103	39	0	746	0	FLNB	3	58067448	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	448425	58067448	139954982	266	141331											
PXK	54899	broad.mit.edu	37	chr3	58410518	58410518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcctccacctccaccacCaccagcagctcccttgcctc	3	24	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:58410518C>A	uc003djz.1	+	18	1667	c.1568C>A	c.(1567-1569)CCA>CAA	p.P523Q	PXK_uc003dka.1_3'UTR|PXK_uc003dkb.1_Missense_Mutation_p.P440Q|PXK_uc003dkc.1_Silent_p.T516T|PXK_uc011bfe.1_3'UTR|PXK_uc010hnj.1_Missense_Mutation_p.P490Q|PXK_uc003dkd.1_Missense_Mutation_p.P386Q|PXK_uc010hnk.1_Missense_Mutation_p.P297Q	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	523					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|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				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)		CCTCCACCACCACCAGCAGCT	0.612													A	58410518	C	A	58410518	3	1	275	1	0	0	0	0	1	0	0	0	12849	594	21	5	1638	5	PXK	3	58410518	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	343070	58410518	139611912	267	141332											
MAGI1	9223	broad.mit.edu	37	chr3	65415259	65415259	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccagcatatccaccacTtggttgtgagttagggcctg	10	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:65415259T>G	uc003dmn.2	-	12	2629	c.2103A>C	c.(2101-2103)CAA>CAC	p.Q701H	MAGI1_uc003dmm.2_Missense_Mutation_p.Q701H|MAGI1_uc003dmo.2_Missense_Mutation_p.Q701H|MAGI1_uc003dmp.2_Missense_Mutation_p.Q701H|MAGI1_uc010hny.2_Missense_Mutation_p.Q586H	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	701	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		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)		TATCCACCACTTGGTTGTGAG	0.448													G	65415259	T	G	65415259	3	3	275	1	0	0	0	0	1	0	0	0	9190	1606	56	5	2567	5	MAGI1	3	65415259	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	7004741	65415259	132607171	268	141333											
MITF	4286	broad.mit.edu	37	chr3	70008489	70008489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatatccgaaagttgcaacGagaacagcaacgcgcaaaag	9	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:70008489G>A	uc003dnz.2	+	9	1195	c.1079G>A	c.(1078-1080)CGA>CAA	p.R360Q	MITF_uc011bgb.1_Missense_Mutation_p.R308Q|MITF_uc003doa.2_Missense_Mutation_p.R359Q|MITF_uc003dob.2_Missense_Mutation_p.R344Q|MITF_uc003dod.2_Missense_Mutation_p.R335Q|MITF_uc003doe.2_Missense_Mutation_p.R253Q|MITF_uc003dof.2_Missense_Mutation_p.R259Q	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	366					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			ovary(2)	2		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)		AAGTTGCAACGAGAACAGCAA	0.458			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						A	70008489	G	A	70008489	3	1	275	1	0	0	0	0	1	0	0	0	9596	1058	37	1	1352	1	MITF	3	70008489	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4593230	70008489	128013941	269	141334											
FILIP1L	11259	broad.mit.edu	37	chr3	99568682	99568682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaatgctgttgtggatTtcccagagtcttgatttaat	11	5	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:99568682T>A	uc003dtm.2	-	5	2301	c.1838A>T	c.(1837-1839)AAA>ATA	p.K613I	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.K613I|FILIP1L_uc010hpf.2_Missense_Mutation_p.K189I|FILIP1L_uc010hpg.2_Missense_Mutation_p.K373I|FILIP1L_uc003dtn.2_Missense_Mutation_p.K373I|FILIP1L_uc003dtp.1_Missense_Mutation_p.K373I	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	613	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TGTTGTGGATTTCCCAGAGTC	0.353													A	99568682	T	A	99568682	3	1	275	1	0	0	0	0	1	0	0	0	5895	1841	64	5	1598	5	FILIP1L	3	99568682	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	29560193	99568682	98453748	270	141335											
TBC1D23	55773	broad.mit.edu	37	chr3	100020960	100020960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtaaaatccttgctggAagcacagaagcagtccattg	10	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:100020960A>G	uc003dtt.2	+	11	1319	c.1142A>G	c.(1141-1143)GAA>GGA	p.E381G	TBC1D23_uc003dts.2_Missense_Mutation_p.E381G	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	381	Rhodanese.					intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						TCCTTGCTGGAAGCACAGAAG	0.428													G	100020960	A	G	100020960	3	3	275	1	0	0	0	0	1	0	0	0	15610	246	9	3	1184	3	TBC1D23	3	100020960	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	452278	100020960	98001470	271	141336											
NIT2	56954	broad.mit.edu	37	chr3	100071247	100071247	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctgtctattgactacaGggctgttgataatcaggtgt	10	7	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:100071247G>A	uc003dtv.2	+	8	659	c.585_splice	c.e8-1	p.R195_splice		NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2						nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						ATTGACTACAGGGCTGTTGAT	0.443													A	100071247	G	A	100071247	5	1	275	1	0	0	0	0	0	0	1	0	10434	1014	35	4	614	4	NIT2	3	100071247	Splice_Site	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	50287	100071247	97951183	272	141337											
ZBTB11	27107	broad.mit.edu	37	chr3	101389993	101389993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaagatccaccacagcCtcatgactggaaacagctcc	7	15	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:101389993C>A	uc003dve.3	-	3	989	c.759G>T	c.(757-759)GAG>GAT	p.E253D	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	253	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCACCACAGCCTCATGACTGG	0.388													A	101389993	C	A	101389993	3	1	275	1	0	0	0	0	1	0	0	0	17521	680	24	5	2438	5	ZBTB11	3	101389993	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1318746	101389993	96632437	273	141338											
SLC35A5	55032	broad.mit.edu	37	chr3	112299461	112299461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctattgtggccttgactgCcgggactaaaactttacagc	10	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:112299461C>T	uc003dze.2	+	6	742	c.497C>T	c.(496-498)GCC>GTC	p.A166V		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	166	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						GCCTTGACTGCCGGGACTAAA	0.438													T	112299461	C	T	112299461	3	4	275	1	0	0	0	0	1	0	0	0	14574	739	26	2	515	2	SLC35A5	3	112299461	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	10909468	112299461	85722969	274	141339											
SLC35A5	55032	broad.mit.edu	37	chr3	112300135	112300135	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctaggcaagaaaggatcCgagatctaagtggcaatctt	10	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:112300135C>T	uc003dze.2	+	6	1416	c.1171C>T	c.(1171-1173)CGA>TGA	p.R391*		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	391						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						AGAAAGGATCCGAGATCTAAG	0.423													T	112300135	C	T	112300135	4	4	275	1	0	0	0	0	0	1	0	0	14574	644	23	1	1189	1	SLC35A5	3	112300135	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	674	112300135	85722295	275	141340											
FSTL1	11167	broad.mit.edu	37	chr3	120121742	120121742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcagctccatctgcatAcgtttcatcctccagggcac	8	15	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:120121742A>G	uc003eds.2	-	9	893	c.718T>C	c.(718-720)TAT>CAT	p.Y240H	FSTL1_uc011bjh.1_Missense_Mutation_p.Y205H	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	240	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		CCATCTGCATACGTTTCATCC	0.542													G	120121742	A	G	120121742	3	3	275	1	0	0	0	0	1	0	0	0	6077	391	14	3	220	3	FSTL1	3	120121742	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	7821607	120121742	77900688	276	141341											
FBXO40	51725	broad.mit.edu	37	chr3	121341390	121341390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccatgttgagttgtaagCcaagtgaacacaaggcagtg	12	7	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:121341390C>T	uc003eeg.2	+	3	1324	c.1114C>T	c.(1114-1116)CCA>TCA	p.P372S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	372					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		GAGTTGTAAGCCAAGTGAACA	0.493													T	121341390	C	T	121341390	3	4	275	1	0	0	0	0	1	0	0	0	5749	739	26	2	1120	2	FBXO40	3	121341390	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1219648	121341390	76681040	277	141342											
SEMA5B	54437	broad.mit.edu	37	chr3	122632217	122632217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcagccacggcgtccAgggggtgttgcgccgcactt	16	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122632217A>G	uc003efz.1	-	17	2639	c.2335T>C	c.(2335-2337)TGG>CGG	p.W779R	SEMA5B_uc011bju.1_Missense_Mutation_p.W721R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.W779R|SEMA5B_uc010hro.1_Missense_Mutation_p.W721R|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	779	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CACGGCGTCCAGGGGGTGTTG	0.716													G	122632217	A	G	122632217	3	3	275	1	0	0	0	0	1	0	0	0	14038	188	7	3	1148	3	SEMA5B	3	122632217	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1290827	122632217	75390213	278	141343											
SEMA5B	54437	broad.mit.edu	37	chr3	122632729	122632729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccggctcttgcccacgCagatgcggcccccgtggcgg	13	19	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122632729C>T	uc003efz.1	-	15	2412	c.2108G>A	c.(2107-2109)TGC>TAC	p.C703Y	SEMA5B_uc011bju.1_Missense_Mutation_p.C645Y|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.C703Y|SEMA5B_uc010hro.1_Missense_Mutation_p.C645Y|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	703	Extracellular (Potential).|TSP type-1 1.			C -> F (in Ref. 2; AAQ88491).	cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CTTGCCCACGCAGATGCGGCC	0.657													T	122632729	C	T	122632729	3	4	275	1	0	0	0	0	1	0	0	0	14038	710	25	2	1383	2	SEMA5B	3	122632729	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	512	122632729	75389701	279	141344											
SEMA5B	54437	broad.mit.edu	37	chr3	122632812	122632812	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccacaggacgtgctgcaCagcgcccacgatgaccacgg	12	15	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122632812C>A	uc003efz.1	-	15	2329	c.2025G>T	c.(2023-2025)CTG>CTT	p.L675L	SEMA5B_uc011bju.1_Silent_p.L617L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L675L|SEMA5B_uc010hro.1_Silent_p.L617L|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	675	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		ACGTGCTGCACAGCGCCCACG	0.667													A	122632812	C	A	122632812	2	1	275	1	0	0	0	0	0	0	0	1	14038	465	17	5		5	SEMA5B	3	122632812	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	83	122632812	75389618	280	141345											
PDIA5	10954	broad.mit.edu	37	chr3	122864994	122864994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtcaacaaggccctgGcagaaagattccacatctca	7	14	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:122864994G>A	uc003egc.1	+	13	1086	c.1030G>A	c.(1030-1032)GCA>ACA	p.A344T	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	344	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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		CAAGGCCCTGGCAGAAAGATT	0.502													A	122864994	G	A	122864994	3	1	275	1	0	0	0	0	1	0	0	0	11671	1203	42	2	1080	2	PDIA5	3	122864994	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	232182	122864994	75157436	281	141346											
ADCY5	111	broad.mit.edu	37	chr3	123021992	123021992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgactccgccacgtgacaCgcgttgacctggctcgcgct	12	17	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:123021992C>T	uc003egh.1	-	14	2634	c.2634G>A	c.(2632-2634)GCG>GCA	p.A878A	ADCY5_uc003egg.1_Silent_p.A511A|ADCY5_uc003egi.1_Silent_p.A437A	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	878	Extracellular (Potential).				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			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CCACGTGACACGCGTTGACCT	0.642													T	123021992	C	T	123021992	2	4	275	1	0	0	0	0	0	0	0	1	297	523	19	1		1	ADCY5	3	123021992	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	156998	123021992	75000438	282	141347											
KALRN	8997	broad.mit.edu	37	chr3	124209614	124209614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgtgggacccgaagtcGctgatccggaaggggcggga	18	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:124209614G>A	uc003ehg.2	+	30	4591	c.4464G>A	c.(4462-4464)TCG>TCA	p.S1488S	KALRN_uc010hrv.1_Silent_p.S1479S|KALRN_uc003ehf.1_Silent_p.S1488S|KALRN_uc011bjy.1_Silent_p.S1479S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1488	PH 1.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						ACCCGAAGTCGCTGATCCGGA	0.502													A	124209614	G	A	124209614	2	1	275	1	0	0	0	0	0	0	0	1	7975	1074	38	1		1	KALRN	3	124209614	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1187622	124209614	73812816	283	141348											
PLXNA1	5361	broad.mit.edu	37	chr3	126741039	126741039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcgcagcttctccatgCgcgaccgcgggaatgtggcc	13	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:126741039C>T	uc003ejg.2	+	21	4085	c.4081C>T	c.(4081-4083)CGC>TGC	p.R1361C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1384	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTTCTCCATGCGCGACCGCGG	0.612													T	126741039	C	T	126741039	3	4	275	1	0	0	0	0	1	0	0	0	12119	768	27	1	4232	1	PLXNA1	3	126741039	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2531425	126741039	71281391	284	141349											
PLXNA1	5361	broad.mit.edu	37	chr3	126751418	126751418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctacgccaaggacatccCcaactacaagagctgggtgg	11	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:126751418C>T	uc003ejg.2	+	29	5355	c.5351C>T	c.(5350-5352)CCC>CTC	p.P1784L	PLXNA1_uc003ejh.2_Missense_Mutation_p.P452L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1807	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AAGGACATCCCCAACTACAAG	0.647													T	126751418	C	T	126751418	3	4	275	1	0	0	0	0	1	0	0	0	12119	623	22	4	5534	4	PLXNA1	3	126751418	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	10379	126751418	71271012	285	141350											
PODXL2	50512	broad.mit.edu	37	chr3	127390358	127390358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgactacggcacgctcttcGtggtgctggtggtcattggg	16	10	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:127390358G>A	uc003ejq.2	+	7	1531	c.1507G>A	c.(1507-1509)GTG>ATG	p.V503M	ABTB1_uc003ejr.2_5'Flank|ABTB1_uc003ejs.2_5'Flank|ABTB1_uc003ejt.2_5'Flank|ABTB1_uc003eju.2_5'Flank	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	503	Helical; (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						CACGCTCTTCGTGGTGCTGGT	0.627													A	127390358	G	A	127390358	3	1	275	1	0	0	0	0	1	0	0	0	12181	1145	40	1	1533	1	PODXL2	3	127390358	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	638940	127390358	70632072	286	141351											
EEFSEC	60678	broad.mit.edu	37	chr3	128126962	128126962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacccgccctcaagaagCgggcccgggctggccgtggg	16	15	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:128126962C>T	uc003eki.2	+	7	1689	c.1651C>T	c.(1651-1653)CGG>TGG	p.R551W	EEFSEC_uc003ekj.2_3'UTR	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	551	Nuclear localization signal (Potential).					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						CCTCAAGAAGCGGGCCCGGGC	0.657													T	128126962	C	T	128126962	3	4	275	1	0	0	0	0	1	0	0	0	4931	759	27	1	1677	1	EEFSEC	3	128126962	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	736604	128126962	69895468	287	141352											
GP9	2815	broad.mit.edu	37	chr3	128780857	128780857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggcactgtgactgcaGcctcacctatctgcgcctct	8	18	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:128780857G>A	uc003elm.2	+	3	462	c.275G>A	c.(274-276)AGC>AAC	p.S92N		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	92	LRRCT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)	TGTGACTGCAGCCTCACCTAT	0.692													A	128780857	G	A	128780857	3	1	275	1	0	0	0	0	1	0	0	0	6585	971	34	2	277	2	GP9	3	128780857	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	653895	128780857	69241573	288	141353											
COL6A6	131873	broad.mit.edu	37	chr3	130287203	130287203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccaccaagggcgcccGgcccaacatcagaaagtttc	9	17	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:130287203G>A	uc010htl.2	+	5	2187	c.2156G>A	c.(2155-2157)CGG>CAG	p.R719Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	719	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AAGGGCGCCCGGCCCAACATC	0.502													A	130287203	G	A	130287203	3	1	275	1	0	0	0	0	1	0	0	0	3703	1116	39	1	2174	1	COL6A6	3	130287203	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1506346	130287203	67735227	289	141354											
MRPL3	11222	broad.mit.edu	37	chr3	131206557	131206557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccacatactgtcctggaCgaaagtgagcagcataaaga	9	10	0	2	rs143919720		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:131206557C>T	uc003eoh.2	-	6	760	c.596G>A	c.(595-597)CGT>CAT	p.R199H	MRPL3_uc011blo.1_Missense_Mutation_p.R94H|MRPL3_uc011blp.1_Missense_Mutation_p.R226H	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	199					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						CTGTCCTGGACGAAAGTGAGC	0.343													T	131206557	C	T	131206557	3	4	275	1	0	0	0	0	1	0	0	0	9793	536	19	1	470	1	MRPL3	3	131206557	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	919354	131206557	66815873	290	141355											
DNAJC13	23317	broad.mit.edu	37	chr3	132184898	132184898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaactgcaacaaactTgttgaaacgcattttggtaa	7	7	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:132184898T>C	uc003eor.2	+	18	2017	c.1952T>C	c.(1951-1953)TTG>TCG	p.L651S	DNAJC13_uc010htq.1_Missense_Mutation_p.L651S	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	651							heat shock protein binding			ovary(1)|breast(1)	2						GCAACAAACTTGTTGAAACGC	0.358													C	132184898	T	C	132184898	3	2	275	1	0	0	0	0	1	0	0	0	4632	1821	63	3	2018	3	DNAJC13	3	132184898	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	978341	132184898	65837532	291	141356											
TF	7018	broad.mit.edu	37	chr3	133475800	133475800	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcataccgtcgtggccCgaagtatgggcggcaaggag	14	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:133475800C>T	uc003epu.1	+	12	2545	c.817C>T	c.(817-819)CGA>TGA	p.R273*	TF_uc011blt.1_Nonsense_Mutation_p.R146*|TF_uc003epw.1_Intron|TF_uc003epv.1_Nonsense_Mutation_p.R273*	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	273	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CGTCGTGGCCCGAAGTATGGG	0.592													T	133475800	C	T	133475800	4	4	275	1	0	0	0	0	0	1	0	0	15782	644	23	1	843	1	TF	3	133475800	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1290902	133475800	64546630	292	141357											
SR140	23350	broad.mit.edu	37	chr3	142741774	142741774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatccaatatacattccGccttctatgatggaacatac	4	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:142741774G>A	uc003evh.1	+	12	1197	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Silent_p.P366P|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Silent_p.P365P|SR140_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	366	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						TATACATTCCGCCTTCTATGA	0.423													A	142741774	G	A	142741774	2	1	275	1	0	0	0	0	0	0	0	1	15130	1074	38	1		1	SR140	3	142741774	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	9265974	142741774	55280656	293	141358											
TM4SF4	7104	broad.mit.edu	37	chr3	149192694	149192694	+	Frame_Shift_Del	DEL	G	G	-													gggggctgtgccagatgcctGggggggaccctcattcccct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:149192693_149192693TG>T	uc003exd.2	+	0	326	c.29_29TG>T	c.(28-30)ctgfs	p.L10fs		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	10						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCAGATGCCTGGGGGGGACC	0.532													-	149192694	G	-	149192694	7	5	275	1	0	1	0	1	0	0	0	0	15967	1335	47	0	32	0	TM4SF4	3	149192694	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	6450920	149192694	48829736	294	141359											
IGSF10	285313	broad.mit.edu	37	chr3	151165427	151165427	+	Frame_Shift_Del	DEL	G	G	-													ttgggagttgggtgaccactGggggtgggctcactgtggta							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:151165426_151165426TG>T	uc011bod.2	-	3	2343	c.2343_2343CA>A	c.(2341-2343)ccafs	p.P781fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	781					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)			GGGTGACCACTGGGGGTGGGC	0.498													-	151165427	G	-	151165427	7	5	275	1	0	1	0	1	0	0	0	0	7597	1348	47	0	5589	0	IGSF10	3	151165427	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1972733	151165427	46857003	295	141360											
ZBBX	79740	broad.mit.edu	37	chr3	167068281	167068283	+	In_Frame_Del	DEL	TCT	TCT	-													caaagcatcctgaacaataaTcttctccacattcaaggcat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:167068280_167068282ATCT>A	uc011bpc.2	-	8	791_793	c.454_456AGAT>T	c.(454-456)gat>T	p.D152del	ZBBX_uc003feq.3_In_Frame_Del_p.D123del|ZBBX_uc003fep.3_In_Frame_Del_p.D152del	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	152						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						CTGAACAATAATCTTCTCCACAT	0.31													-	167068283	TCT	-	167068281	7	5	275	1	0	1	0	1	0	0	0	0	17513	1435	50	0	1999	0	ZBBX	3	167068281	In_Frame_Del	DEL	TCT	TCGA-HU-A4GX-01A-12D-A25D-08	15902854	167068281	30954149	296	141361											
WDR49	151790	broad.mit.edu	37	chr3	167319962	167319962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctttccacaaagaattGgacggctattacactggctg	8	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:167319962G>T	uc003fev.1	-	3	511	c.205C>A	c.(205-207)CAA>AAA	p.Q69K	WDR49_uc011bpd.1_Missense_Mutation_p.Q122K|WDR49_uc003few.1_Missense_Mutation_p.Q410K	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	69	WD 2.									large_intestine(1)|ovary(1)|skin(1)	3						ACAAAGAATTGGACGGCTATT	0.403													T	167319962	G	T	167319962	3	4	275	1	0	0	0	0	1	0	0	0	17299	1357	47	5	1940	5	WDR49	3	167319962	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	251681	167319962	30702468	297	141362											
GPR160	26996	broad.mit.edu	37	chr3	169802628	169802628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagttttctcattgctAcagtgtattggtttaattgt	7	5	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:169802628A>G	uc003fgi.2	+	4	1458	c.868A>G	c.(868-870)ACA>GCA	p.T290A	GPR160_uc010hwq.2_Missense_Mutation_p.T290A	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	290	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	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)			TCTCATTGCTACAGTGTATTG	0.328													G	169802628	A	G	169802628	3	3	275	1	0	0	0	0	1	0	0	0	6664	391	14	3	870	3	GPR160	3	169802628	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2482666	169802628	28219802	298	141363											
TNIK	23043	broad.mit.edu	37	chr3	170857277	170857277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagaagtagagcttgttcAtgcagtagctgctgctgcaa	11	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:170857277A>G	uc003fhh.2	-	14	1746	c.1401T>C	c.(1399-1401)CAT>CAC	p.H467H	TNIK_uc003fhi.2_Silent_p.H467H|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Silent_p.H467H|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Silent_p.H467H|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	467	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			ovary(4)|large_intestine(1)	5	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)			GAGCTTGTTCATGCAGTAGCT	0.408													G	170857277	A	G	170857277	2	3	275	1	0	0	0	0	0	0	0	1	16310	214	8	3		3	TNIK	3	170857277	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1054649	170857277	27165153	299	141364											
PLD1	5337	broad.mit.edu	37	chr3	171320972	171320972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgcaccaaaaatccacGgatcttcttcagttcctcct	5	13	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:171320972G>A	uc003fhs.2	-	27	3237	c.3121C>T	c.(3121-3123)CGT>TGT	p.R1041C	PLD1_uc003fht.2_Missense_Mutation_p.R1003C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	1041					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			ovary(2)|lung(1)	3	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)	AAAAATCCACGGATCTTCTTC	0.438													A	171320972	G	A	171320972	3	1	275	1	0	0	0	0	1	0	0	0	12045	1116	39	1	107	1	PLD1	3	171320972	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	463695	171320972	26701458	300	141365											
SPATA16	83893	broad.mit.edu	37	chr3	172834946	172834946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtcctgctgccaaggcGtatttcttttgtctatagca	8	10	2	0	rs146363552		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:172834946G>A	uc003fin.3	-	2	734	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	192					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGCCAAGGCGTATTTCTTTT	0.403													A	172834946	G	A	172834946	2	1	275	1	0	0	0	0	0	0	0	1	15000	1140	40	1		1	SPATA16	3	172834946	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1513974	172834946	25187484	301	141366											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	275	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	6117139	178952085	19070345	302	141367											
B3GNT5	84002	broad.mit.edu	37	chr3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-													gttttttagcgagcctcatgTttttttgggaaccaatcgat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					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)			CGAGCCTCATGTTTTTTTGGG	0.353													-	182987674	T	-	182987674	7	5	275	1	0	1	0	1	0	0	0	0	1260	1725	60	0	90	0	B3GNT5	3	182987674	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	4035589	182987674	15034756	303	141368											
HTR3E	285242	broad.mit.edu	37	chr3	183823105	183823105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtgggaaataacagacGcatcccggaacatccttcag	10	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:183823105G>A	uc010hxq.2	+	6	1076	c.610G>A	c.(610-612)GCA>ACA	p.A204T	HTR3E_uc003fml.3_Missense_Mutation_p.A189T|HTR3E_uc003fmm.2_Missense_Mutation_p.A219T|HTR3E_uc010hxr.2_Missense_Mutation_p.A230T|HTR3E_uc003fmn.2_Missense_Mutation_p.A204T	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	204	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATAACAGACGCATCCCGGAA	0.493													A	183823105	G	A	183823105	3	1	275	1	0	0	0	0	1	0	0	0	7448	1087	38	1	673	1	HTR3E	3	183823105	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	835431	183823105	14199325	304	141369											
ABCF3	55324	broad.mit.edu	37	chr3	183905683	183905683	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagccagccaggcaggcAgcagaaaggagagtcggttg	15	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:183905683A>G	uc003fmz.2	+	6	614	c.481A>G	c.(481-483)AGC>GGC	p.S161G	ABCF3_uc003fna.2_Missense_Mutation_p.S155G|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	161							ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGGCAGGCAGCAGAAAGGA	0.488													G	183905683	A	G	183905683	3	3	275	1	0	0	0	0	1	0	0	0	67	188	7	3	503	3	ABCF3	3	183905683	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	82578	183905683	14116747	305	141370											
EIF4G1	1981	broad.mit.edu	37	chr3	184045702	184045702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcgagtctacgctggagCgcagtgccattgctcgtgag	15	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:184045702C>T	uc003fnp.2	+	26	4063	c.3865C>T	c.(3865-3867)CGC>TGC	p.R1289C	EIF4G1_uc003fnt.2_Missense_Mutation_p.R1000C|EIF4G1_uc003fnq.2_Missense_Mutation_p.R1202C|EIF4G1_uc003fnr.2_Missense_Mutation_p.R1125C|EIF4G1_uc010hxx.2_Missense_Mutation_p.R1296C|EIF4G1_uc003fns.2_Missense_Mutation_p.R1249C|EIF4G1_uc010hxy.2_Missense_Mutation_p.R1296C|EIF4G1_uc003fnv.3_Missense_Mutation_p.R1290C|EIF4G1_uc003fnu.3_Missense_Mutation_p.R1289C|EIF4G1_uc003fnw.2_Missense_Mutation_p.R1296C|EIF4G1_uc003fnx.2_Missense_Mutation_p.R1094C|EIF4G1_uc003fny.3_Missense_Mutation_p.R1093C|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1289	MI.				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			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACGCTGGAGCGCAGTGCCAT	0.597													T	184045702	C	T	184045702	3	4	275	1	0	0	0	0	1	0	0	0	5036	768	27	1	3959	1	EIF4G1	3	184045702	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	140019	184045702	13976728	306	141371											
THPO	7066	broad.mit.edu	37	chr3	184093761	184093761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagccgggctggacagcGttagccttgcagttaggaga	17	8	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:184093761G>A	uc003fol.1	-	3	271	c.56C>T	c.(55-57)ACG>ATG	p.T19M	THPO_uc003fom.1_Missense_Mutation_p.T19M|THPO_uc003fon.2_Missense_Mutation_p.T19M|THPO_uc011bro.1_Missense_Mutation_p.T19M|THPO_uc003fop.2_Missense_Mutation_p.T19M|THPO_uc011brp.1_Missense_Mutation_p.T19M|THPO_uc011brq.1_Missense_Mutation_p.T19M|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.T19M|THPO_uc003fou.1_Missense_Mutation_p.T19M	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	19					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGGACAGCGTTAGCCTTGC	0.517													A	184093761	G	A	184093761	3	1	275	1	0	0	0	0	1	0	0	0	15869	1145	40	1	1021	1	THPO	3	184093761	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	48059	184093761	13928669	307	141372											
MAP3K13	9175	broad.mit.edu	37	chr3	185198156	185198156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgataaacttgaagacCgcttggcagagaagctagac	11	8	0	5			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:185198156C>T	uc010hyf.2	+	14	2904	c.2638C>T	c.(2638-2640)CGC>TGC	p.R880C	MAP3K13_uc011brt.1_Missense_Mutation_p.R673C|MAP3K13_uc011bru.1_Missense_Mutation_p.R736C|MAP3K13_uc003fpi.2_Missense_Mutation_p.R880C|MAP3K13_uc010hyg.2_Missense_Mutation_p.R570C	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	880					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			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACTTGAAGACCGCTTGGCAGA	0.493													T	185198156	C	T	185198156	3	4	275	1	0	0	0	0	1	0	0	0	9247	652	23	1	2684	1	MAP3K13	3	185198156	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1104395	185198156	12824274	308	141373											
EIF4A2	1974	broad.mit.edu	37	chr3	186504345	186504345	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttggaagtgaccaaaaaaTtcatgagagatccaattcga	9	6	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:186504345T>A	uc003fqs.2	+	7	721	c.682T>A	c.(682-684)TTC>ATC	p.F228I	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.F229I|EIF4A2_uc003fqv.2_Missense_Mutation_p.F133I|EIF4A2_uc003fqw.2_Missense_Mutation_p.F133I|EIF4A2_uc011bsb.1_Missense_Mutation_p.F101I|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	228	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			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GACCAAAAAATTCATGAGAGA	0.353			T	BCL6	NHL								A	186504345	T	A	186504345	3	1	275	1	0	0	0	0	1	0	0	0	5025	1493	52	5	708	5	EIF4A2	3	186504345	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1306189	186504345	11518085	309	141374											
C3orf21	152002	broad.mit.edu	37	chr3	194790465	194790465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcctccgggatgggagtGttgcagttcccgtggtagat	15	8	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:194790465G>A	uc003fum.3	-	4	1269	c.1161C>T	c.(1159-1161)AAC>AAT	p.N387N	C3orf21_uc003ful.2_Silent_p.N184N|C3orf21_uc003fuk.2_Silent_p.N181N	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	387						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GGATGGGAGTGTTGCAGTTCC	0.632													A	194790465	G	A	194790465	2	1	275	1	0	0	0	0	0	0	0	1	2214	1368	48	4		4	C3orf21	3	194790465	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	8286120	194790465	3231965	310	141375											
TFRC	7037	broad.mit.edu	37	chr3	195800860	195800860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaactttctcttcaggtcAtcccaatataagcgacgtgc	7	12	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:195800860A>G	uc003fvz.3	-	4	658	c.375T>C	c.(373-375)GAT>GAC	p.D125D	TFRC_uc003fwa.3_Silent_p.D125D|TFRC_uc010hzy.2_Silent_p.D44D|TFRC_uc011btr.1_Intron	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	125	Extracellular (Potential).				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			ovary(3)	3	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)		TCTTCAGGTCATCCCAATATA	0.512			T	BCL6	NHL						OREG0016005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	195800860	A	G	195800860	2	3	275	1	0	0	0	0	0	0	0	1	15809	214	8	3		3	TFRC	3	195800860	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1010395	195800860	2221570	311	141376											
PIGZ	80235	broad.mit.edu	37	chr3	196675210	196675210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataccagcaccagcagccaCgtgaagaggagtccctcaat	10	13	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:196675210C>T	uc003fxh.2	-	3	705	c.558G>A	c.(556-558)ACG>ACA	p.T186T		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	186	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	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)		CCAGCAGCCACGTGAAGAGGA	0.622													T	196675210	C	T	196675210	2	4	275	1	0	0	0	0	0	0	0	1	11905	523	19	1		1	PIGZ	3	196675210	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	874350	196675210	1347220	312	141377											
LRCH3	84859	broad.mit.edu	37	chr3	197553754	197553754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaccttcttgcagagctgGcggagttgcctttgatacgg	12	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr3:197553754G>A	uc011bul.1	+	5	651	c.646G>A	c.(646-648)GCG>ACG	p.A216T	LRCH3_uc003fyj.1_Missense_Mutation_p.A216T|LRCH3_uc011bum.1_Missense_Mutation_p.A216T|LRCH3_uc011bun.1_Missense_Mutation_p.A90T|LRCH3_uc003fyk.2_5'Flank	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	216	LRR 6.					extracellular region				ovary(1)	1	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)		TGCAGAGCTGGCGGAGTTGCC	0.368													A	197553754	G	A	197553754	3	1	275	1	0	0	0	0	1	0	0	0	8934	1203	42	2	664	2	LRCH3	3	197553754	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	878544	197553754	468676	313	141378											
CRIPAK	285464	broad.mit.edu	37	chr4	1388513	1388513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcacacacgtgtccatGtggagtgcccacctgctcat	9	15	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:1388513G>A	uc003gdf.2	+	1	3174	c.214G>A	c.(214-216)GTG>ATG	p.V72M		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	72					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACGTGTCCATGTGGAGTGCCC	0.637													A	1388513	G	A	1388513	3	1	275	1	0	0	0	0	1	0	0	0	3877	1377	48	4	216	4	CRIPAK	4	1388513	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		1388513	189765763	314	141379											
ZFYVE28	57732	broad.mit.edu	37	chr4	2343294	2343294	+	Frame_Shift_Del	DEL	G	G	-													atctctgggggcgcggtcctGggggatgcactcatccatga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:2343293_2343293TG>T	uc003gex.2	-	2	550	c.230_230CA>A	c.(229-231)cagfs	p.Q77fs	ZFYVE28_uc011bvk.2_Frame_Shift_Del_p.Q7fs|ZFYVE28_uc011bvl.2_Frame_Shift_Del_p.Q77fs|ZFYVE28_uc003gey.4_Frame_Shift_Del_p.Q7fs|ZFYVE28_uc003gez.3_Frame_Shift_Del_p.Q30fs|ZFYVE28_uc021xkq.1_Frame_Shift_Del_p.Q77fs|ZFYVE28_uc003gew.2_5'Flank	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	77					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						GGCGCGGTCCTGGGGGATGCA	0.587													-	2343294	G	-	2343294	7	5	275	1	0	1	0	1	0	0	0	0	17667	1357	47	0	2698	0	ZFYVE28	4	2343294	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	954781	2343294	188810982	315	141380											
RGS12	6002	broad.mit.edu	37	chr4	3417807	3417807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctagcagacgacgtcctcCgcgcacctcacccagacatg	9	17	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:3417807C>T	uc003ggw.2	+	7	3290	c.2386C>T	c.(2386-2388)CGC>TGC	p.R796C	RGS12_uc003ggu.2_Missense_Mutation_p.R796C|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R796C|RGS12_uc003ggy.1_Missense_Mutation_p.R194C|RGS12_uc010ict.1_Missense_Mutation_p.R148C|RGS12_uc003ggz.2_Missense_Mutation_p.R148C|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.1_Missense_Mutation_p.R138C|RGS12_uc003gha.2_Missense_Mutation_p.R138C|RGS12_uc010icv.2_5'UTR|RGS12_uc003ghb.2_5'UTR	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	796	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGACGTCCTCCGCGCACCTCA	0.607													T	3417807	C	T	3417807	3	4	275	1	0	0	0	0	1	0	0	0	13295	652	23	1	2466	1	RGS12	4	3417807	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1074513	3417807	187736469	316	141381											
HGFAC	3083	broad.mit.edu	37	chr4	3444828	3444828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttccgctacgggggccGcatgctgcatgcctgcactt	11	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:3444828G>A	uc003ghc.2	+	3	353	c.350G>A	c.(349-351)CGC>CAC	p.R117H	HGFAC_uc010icw.2_Missense_Mutation_p.R117H	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	117	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TACGGGGGCCGCATGCTGCAT	0.721													A	3444828	G	A	3444828	3	1	275	1	0	0	0	0	1	0	0	0	7086	1087	38	1	360	1	HGFAC	4	3444828	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	27021	3444828	187709448	317	141382											
HGFAC	3083	broad.mit.edu	37	chr4	3446081	3446081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgagtacctggaggggggCgaccgctgggcccgcgtgcg	19	12	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:3446081C>T	uc003ghc.2	+	6	645	c.642C>T	c.(640-642)GGC>GGT	p.G214G	HGFAC_uc010icw.2_Silent_p.G214G	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	214	Fibronectin type-I.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGGAGGGGGGCGACCGCTGGG	0.682													T	3446081	C	T	3446081	2	4	275	1	0	0	0	0	0	0	0	1	7086	755	27	1		1	HGFAC	4	3446081	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1253	3446081	187708195	318	141383											
EVC	2121	broad.mit.edu	37	chr4	5731072	5731072	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagcaatatcacagcattCgccctgaaggccaaagtcat	7	12	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:5731072C>T	uc003gil.1	+	3	523	c.339C>T	c.(337-339)TTC>TTT	p.F113F	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	113					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				TCACAGCATTCGCCCTGAAGG	0.483													T	5731072	C	T	5731072	2	4	275	1	0	0	0	0	0	0	0	1	5285	883	31	1		1	EVC	4	5731072	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2284991	5731072	185423204	319	141384											
EVC	2121	broad.mit.edu	37	chr4	5798754	5798754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttcctcaaaggtccaCgcggtgtgtcctgcaggggc	13	13	1	0	rs139481521	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:5798754C>T	uc003gil.1	+	14	2076	c.1892C>T	c.(1891-1893)ACG>ATG	p.T631M	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	631					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CAAAGGTCCACGCGGTGTGTC	0.647													T	5798754	C	T	5798754	3	4	275	1	0	0	0	0	1	0	0	0	5285	536	19	1	1946	1	EVC	4	5798754	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	67682	5798754	185355522	320	141385											
EVC	2121	broad.mit.edu	37	chr4	5798841	5798841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgccctggccaccctgaCgcagatgcggctatcgggga	13	15	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:5798841C>T	uc003gil.1	+	14	2163	c.1979C>T	c.(1978-1980)ACG>ATG	p.T660M	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	660					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GCCACCCTGACGCAGATGCGG	0.672													T	5798841	C	T	5798841	3	4	275	1	0	0	0	0	1	0	0	0	5285	536	19	1	2033	1	EVC	4	5798841	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	87	5798841	185355435	321	141386											
WFS1	7466	broad.mit.edu	37	chr4	6303072	6303072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctctatctcttcttccGcatggcacagctgaggaatt	8	13	3	1	rs150394063	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:6303072G>A	uc003giy.2	+	8	1716	c.1550G>A	c.(1549-1551)CGC>CAC	p.R517H	WFS1_uc003gix.2_Missense_Mutation_p.R517H|WFS1_uc003giz.2_Missense_Mutation_p.R335H	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	517					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)	2				Colorectal(103;0.0512)		CTCTTCTTCCGCATGGCACAG	0.577													A	6303072	G	A	6303072	3	1	275	1	0	0	0	0	1	0	0	0	17357	1087	38	1	1576	1	WFS1	4	6303072	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	504231	6303072	184851204	322	141387											
PPP2R2C	5522	broad.mit.edu	37	chr4	6325199	6325199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccccccacgcacacgcGccgtggcttgagcacagccc	10	20	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:6325199G>A	uc003gjc.2	-	9	1544	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C	PPP2R2C_uc003gjb.2_Missense_Mutation_p.R375C|PPP2R2C_uc011bwd.1_Missense_Mutation_p.R385C|PPP2R2C_uc011bwe.1_Missense_Mutation_p.R385C|PPP2R2C_uc003gja.2_Missense_Mutation_p.R392C	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	392					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						ACGCACACGCGCCGTGGCTTG	0.627													A	6325199	G	A	6325199	3	1	275	1	0	0	0	0	1	0	0	0	12386	1087	38	1	173	1	PPP2R2C	4	6325199	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	22127	6325199	184829077	323	141388											
CNO	55330	broad.mit.edu	37	chr4	6718567	6718567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagactacttcccttgtTgcagtgaaaggcctcagctc	9	13	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:6718567T>C	uc003gjp.1	+	1	726	c.631T>C	c.(631-633)TGC>CGC	p.C211R		NM_018366	NP_060836	Q9NUP1	CNO_HUMAN	cappuccino	211					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol					0				Colorectal(103;0.0523)		CTTCCCTTGTTGCAGTGAAAG	0.577													C	6718567	T	C	6718567	3	2	275	1	0	0	0	0	1	0	0	0	3616	1812	63	3	633	3	CNO	4	6718567	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	393368	6718567	184435709	324	141389											
SORCS2	57537	broad.mit.edu	37	chr4	7398081	7398081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggaaagttctctgtggCggtaagtcagcccgatggca	13	9	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:7398081C>T	uc003gkb.3	+	2	547	c.547C>T	c.(547-549)CGG>TGG	p.R183W	SORCS2_uc011bwi.1_Missense_Mutation_p.R11W	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	183	BNR 1.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						TTCTCTGTGGCGGTAAGTCAG	0.522													T	7398081	C	T	7398081	3	4	275	1	0	0	0	0	1	0	0	0	14931	782	27	1	553	1	SORCS2	4	7398081	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	679514	7398081	183756195	325	141390											
AFAP1	60312	broad.mit.edu	37	chr4	7770639	7770639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggctcttcttcaagaCggccgcgctgttcaccggca	11	15	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:7770639C>T	uc003gkg.1	-	16	2371	c.2098G>A	c.(2098-2100)GTC>ATC	p.V700I	AFAP1_uc011bwk.1_Missense_Mutation_p.V784I|LOC84740_uc003gkd.3_Intron	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	700						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TTCTTCAAGACGGCCGCGCTG	0.657													T	7770639	C	T	7770639	3	4	275	1	0	0	0	0	1	0	0	0	353	536	19	1	102	1	AFAP1	4	7770639	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	372558	7770639	183383637	326	141391											
ABLIM2	84448	broad.mit.edu	37	chr4	8037979	8037979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccttacttttaggaaggGctgccaagtccctgtagtcc	11	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:8037979G>A	uc003gko.2	-	10	1087	c.944C>T	c.(943-945)GCC>GTC	p.A315V	ABLIM2_uc003gkl.2_Missense_Mutation_p.A65V|ABLIM2_uc003gkj.3_Missense_Mutation_p.A315V|ABLIM2_uc003gkm.3_Missense_Mutation_p.A315V|ABLIM2_uc003gkp.2_Missense_Mutation_p.A315V|ABLIM2_uc003gkq.2_Missense_Mutation_p.A315V|ABLIM2_uc003gkr.2_Missense_Mutation_p.A315V|ABLIM2_uc003gks.3_Missense_Mutation_p.A315V|ABLIM2_uc011bwl.1_Missense_Mutation_p.A320V	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	315					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						TTTAGGAAGGGCTGCCAAGTC	0.577													A	8037979	G	A	8037979	3	1	275	1	0	0	0	0	1	0	0	0	95	1203	42	2	1095	2	ABLIM2	4	8037979	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	267340	8037979	183116297	327	141392											
NCAPG	64151	broad.mit.edu	37	chr4	17835966	17835966	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaaaataagtgctttaaaGgcaatctttgaccaactgat	6	6	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:17835966G>T	uc003gpp.2	+	14	2105	c.1929G>T	c.(1927-1929)AAG>AAT	p.K643N	NCAPG_uc011bxj.1_Missense_Mutation_p.K152N	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	643	HEAT 8.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		GTGCTTTAAAGGCAATCTTTG	0.308													T	17835966	G	T	17835966	3	4	275	1	0	0	0	0	1	0	0	0	10207	991	35	5	1983	5	NCAPG	4	17835966	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	9797987	17835966	173318310	328	141393											
SLIT2	9353	broad.mit.edu	37	chr4	20597433	20597433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcagtgaacggctataCgtgcatatgccccgaaggtt	12	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:20597433C>T	uc003gpr.1	+	31	3500	c.3296C>T	c.(3295-3297)ACG>ATG	p.T1099M	SLIT2_uc003gps.1_Missense_Mutation_p.T1091M	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1099	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			central_nervous_system(4)|skin(4)|ovary(3)	11						AACGGCTATACGTGCATATGC	0.338													T	20597433	C	T	20597433	3	4	275	1	0	0	0	0	1	0	0	0	14740	536	19	1	3418	1	SLIT2	4	20597433	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2761467	20597433	170556843	329	141394											
TMEM33	55161	broad.mit.edu	37	chr4	41956157	41956159	+	In_Frame_Del	DEL	AGA	AGA	-													ctgcttgcccactgtttgtgAgaagactttgtctccagagc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:41956156_41956158GAGA>G	uc003gwi.2	+	6	1049_1051	c.684_686GAGA>G	c.(682-687)gtgaga>gtGa	p.R230del	TMEM33_uc010ifw.2_Non-coding_Transcript	NM_018126	NP_060596	P57088	TMM33_HUMAN	Homo sapiens transmembrane protein 33 (TMEM33), mRNA.	230						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CACTGTTTGTGAGAAGACTTTGT	0.35													-	41956159	AGA	-	41956157	7	5	275	1	0	1	0	1	0	0	0	0	16153	296	11	0	711	0	TMEM33	4	41956157	In_Frame_Del	DEL	AGA	TCGA-HU-A4GX-01A-12D-A25D-08	21358724	41956157	149198119	330	141395											
ATP8A1	10396	broad.mit.edu	37	chr4	42576727	42576727	+	Splice_Site	DEL	A	A	-													agaaaatatgtatttaacctAaaaaagtttaaaatttctca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:42576726_42576726TA>T	uc003gwr.2	-	14	1439	c.1207_splice	c.e14-1	p.V403_splice	ATP8A1_uc003gws.2_Splice_Site_p.V403_splice|ATP8A1_uc011byz.1_Splice_Site_p.V403_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	403					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|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)	GTATTTAACCTAAAAAAGTTT	0.338													-	42576727	A	-	42576727	8	5	275	1	0	1	0	1	0	0	1	0	1192	377	13	0		0	ATP8A1	4	42576727	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	620570	42576727	148577549	331	141396											
GABRA2	2555	broad.mit.edu	37	chr4	46263976	46263976	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcttcccatcccaagcCcatcctcttttggtgaagta	5	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:46263976C>T	uc003gxc.3	-	8	1699	c.1026G>A	c.(1024-1026)TGG>TGA	p.W342*	GABRA2_uc010igc.2_Nonsense_Mutation_p.W342*|GABRA2_uc011bzc.1_Nonsense_Mutation_p.W287*|GABRA2_uc003gxe.2_Nonsense_Mutation_p.W342*	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	342	Cytoplasmic (Probable).				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			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATCCCAAGCCCATCCTCTTT	0.383													T	46263976	C	T	46263976	4	4	275	1	0	0	0	0	0	1	0	0	6161	624	22	4	337	4	GABRA2	4	46263976	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3687249	46263976	144890300	332	141397											
ATP10D	57205	broad.mit.edu	37	chr4	47517633	47517633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggcctggaagattatcGgaaatacaaaattgacaaac	9	6	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:47517633G>A	uc003gxk.1	+	3	595	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	ATP10D_uc003gxj.3_Missense_Mutation_p.R144Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	144	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3						GAAGATTATCGGAAATACAAA	0.363													A	47517633	G	A	47517633	3	1	275	1	0	0	0	0	1	0	0	0	1118	1116	39	1	437	1	ATP10D	4	47517633	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1253657	47517633	143636643	333	141398											
SPATA18	132671	broad.mit.edu	37	chr4	52943101	52943101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggctgccctcttgtcccgGttcagcgattcctattccca	8	15	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:52943101G>A	uc003gzl.2	+	7	1193	c.915G>A	c.(913-915)CGG>CGA	p.R305R	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Silent_p.R273R|SPATA18_uc003gzk.1_Silent_p.R305R	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	305	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTTGTCCCGGTTCAGCGATT	0.637													A	52943101	G	A	52943101	2	1	275	1	0	0	0	0	0	0	0	1	15002	1248	44	4		4	SPATA18	4	52943101	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5425468	52943101	138211175	334	141399											
YTHDC1	91746	broad.mit.edu	37	chr4	69202929	69202929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcttcCtcctcctcctctccatcttc	0	23	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:69202929C>T	uc003hdx.2	-	4	1052	c.699G>A	c.(697-699)GAG>GAA	p.E233E	YTHDC1_uc003hdy.2_Silent_p.E233E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	233	Glu-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						cctcctcttcctcctcctcct	0.109													T	69202929	C	T	69202929	2	4	275	1	0	0	0	0	0	0	0	1	17493	680	24	4		4	YTHDC1	4	69202929	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	16259828	69202929	121951347	335	141400											
ADAMTS3	9508	broad.mit.edu	37	chr4	73148871	73148871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcatctttctaaggtggaTgatcttgtcggacgtctgtt	10	8	5	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:73148871T>C	uc003hgk.1	-	22	3637	c.3600A>G	c.(3598-3600)TCA>TCG	p.S1200S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1200					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			CTAAGGTGGATGATCTTGTCG	0.428													C	73148871	T	C	73148871	2	2	275	1	0	0	0	0	0	0	0	1	267	1451	51	3		3	ADAMTS3	4	73148871	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	3945942	73148871	118005405	336	141401											
ALB	213	broad.mit.edu	37	chr4	74279156	74279156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaccttgccaagtataTctgtgaaaatcaagattcga	10	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:74279156T>A	uc003hgs.3	+	8	936	c.863T>A	c.(862-864)ATC>AAC	p.I288N	ALB_uc003hgw.3_Missense_Mutation_p.I96N|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.I288N|ALB_uc010iii.2_Missense_Mutation_p.I173N|ALB_uc003hgu.3_Missense_Mutation_p.I138N|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.I178N|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	288	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	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(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCCAAGTATATCTGTGAAAAT	0.403													A	74279156	T	A	74279156	3	1	275	1	0	0	0	0	1	0	0	0	486	1435	50	5	893	5	ALB	4	74279156	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1130285	74279156	116875120	337	141402											
BTC	685	broad.mit.edu	37	chr4	75695292	75695292	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagttttcctcagggtctcCacagaggaggccattagttt	10	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:75695292C>A	uc003hig.2	-	2	486	c.139G>T	c.(139-141)GGA>TGA	p.G47*		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	47	Extracellular (Potential).				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)|skin(1)	2			Lung(101;0.219)			TCAGGGTCTCCACAGAGGAGG	0.368													A	75695292	C	A	75695292	4	1	275	1	0	0	0	0	0	1	0	0	1549	603	21	5	413	5	BTC	4	75695292	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1416136	75695292	115458984	338	141403											
PARM1	25849	broad.mit.edu	37	chr4	75937773	75937773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccccatccaacggcactcAcaacaactcggtgctcccag	6	19	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:75937773A>G	uc003hih.1	+	2	422	c.182A>G	c.(181-183)CAC>CGC	p.H61R		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	61	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						AACGGCACTCACAACAACTCG	0.512													G	75937773	A	G	75937773	3	3	275	1	0	0	0	0	1	0	0	0	11452	159	6	3	188	3	PARM1	4	75937773	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	242481	75937773	115216503	339	141404											
SHROOM3	57619	broad.mit.edu	37	chr4	77661497	77661497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcaggtttcctacccgcGgcccgaggggaggaccggtg	17	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:77661497G>A	uc011cbx.1	+	5	3124	c.2171G>A	c.(2170-2172)CGG>CAG	p.R724Q	SHROOM3_uc011cbz.1_Missense_Mutation_p.R548Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R599Q|SHROOM3_uc003hkg.2_Missense_Mutation_p.R502Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	724					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			skin(2)|ovary(1)	3			Lung(101;0.0903)			TCCTACCCGCGGCCCGAGGGG	0.667													A	77661497	G	A	77661497	3	1	275	1	0	0	0	0	1	0	0	0	14295	1116	39	1	2189	1	SHROOM3	4	77661497	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1723724	77661497	113492779	340	141405											
FGF5	2250	broad.mit.edu	37	chr4	81188116	81188119	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													aaccctagaggctccagcagCagacagagcagcagtagcgc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:81188115_81188118GCAGA>G	uc003hmd.3	+	0	374_377	c.137_140GCAGA>G	c.(136-141)agcagafs	p.S46fs	FGF5_uc003hme.3_Frame_Shift_Del_p.S46fs	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	46					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						GGCTCCAGCAGCAGACAGAGCAGC	0.627													-	81188119	CAGA	-	81188116	7	5	275	1	0	1	0	1	0	0	0	0	5855	709	25	0	140	0	FGF5	4	81188116	Frame_Shift_Del	DEL	CAGA	TCGA-HU-A4GX-01A-12D-A25D-08	3526619	81188116	109966160	341	141406											
LIN54	132660	broad.mit.edu	37	chr4	83849453	83849453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagttacaaatgtaaatggCaatctgaaatgatttttgaa	7	3	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:83849453C>T	uc003hnx.3	-	13	2430	c.2052G>A	c.(2050-2052)TTG>TTA	p.L684L	LIN54_uc003hnz.3_Silent_p.L463L|LIN54_uc003hny.3_Silent_p.L283L|LIN54_uc010ijt.2_Silent_p.L595L|LIN54_uc010iju.2_Silent_p.L283L|LIN54_uc010ijv.2_Silent_p.L463L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	684					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				ATGTAAATGGCAATCTGAAAT	0.393													T	83849453	C	T	83849453	2	4	275	1	0	0	0	0	0	0	0	1	8809	709	25	2		2	LIN54	4	83849453	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2661337	83849453	107304823	342	141407											
HERC5	51191	broad.mit.edu	37	chr4	89414248	89414248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcagagatgatccagcCggaatatgggatgttcatgt	13	6	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:89414248C>T	uc003hrt.2	+	17	2372	c.2219C>T	c.(2218-2220)CCG>CTG	p.P740L	HERC5_uc011cdm.1_Missense_Mutation_p.P378L	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	740	HECT.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATGATCCAGCCGGAATATGGG	0.448													T	89414248	C	T	89414248	3	4	275	1	0	0	0	0	1	0	0	0	7061	652	23	1	2285	1	HERC5	4	89414248	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5564795	89414248	101740028	343	141408											
PDHA2	5161	broad.mit.edu	37	chr4	96761854	96761854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgtaaatataaaggaaacGatgagatctgtttgacttta	8	5	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:96761854G>A	uc003htr.3	+	1	616	c.553G>A	c.(553-555)GAT>AAT	p.D185N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483													A	96761854	G	A	96761854	3	1	275	1	0	0	0	0	1	0	0	0	11665	1058	37	1	555	1	PDHA2	4	96761854	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	7347606	96761854	94392422	344	141409											
DKK2	27123	broad.mit.edu	37	chr4	107956720	107956720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaggagcaggcagcaggacGaatccttgctccgcatcaac	12	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:107956720G>A	uc003hyi.2	-	1	734	c.29C>T	c.(28-30)TCG>TTG	p.S10L	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S10L	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	10					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGCAGGACGAATCCTTGCT	0.642													A	107956720	G	A	107956720	3	1	275	1	0	0	0	0	1	0	0	0	4545	1059	37	1	766	1	DKK2	4	107956720	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	11194866	107956720	83197556	345	141410											
ALPK1	80216	broad.mit.edu	37	chr4	113351602	113351602	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtatttggtatttttcccAgaatatccgtggcacgtgtt	10	7	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:113351602A>G	uc003iap.3	+	11	1180	c.901_splice	c.e11-2	p.N301_splice	ALPK1_uc003ian.3_Splice_Site_p.N301_splice|ALPK1_uc011cfx.1_Splice_Site_p.N223_splice|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Splice_Site_p.N129_splice	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1								ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TATTTTTCCCAGAATATCCGT	0.363													G	113351602	A	G	113351602	5	3	275	1	0	0	0	0	0	0	1	0	544	202	7	3	933	3	ALPK1	4	113351602	Splice_Site	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	5394882	113351602	77802674	346	141411											
ANK2	287	broad.mit.edu	37	chr4	114213628	114213628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacacgcacatcatcaaCgtcctgctccagcatggggc	10	15	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:114213628C>T	uc003ibe.3	+	21	2434	c.2334C>T	c.(2332-2334)AAC>AAT	p.N778N	ANK2_uc003ibd.3_Silent_p.N757N|ANK2_uc003ibf.3_Silent_p.N778N|ANK2_uc011cgc.1_5'Flank|ANK2_uc003ibc.2_Silent_p.N754N|ANK2_uc011cgb.1_Silent_p.N793N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	778	ANK 23.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACATCATCAACGTCCTGCTCC	0.627													T	114213628	C	T	114213628	2	4	275	1	0	0	0	0	0	0	0	1	621	535	19	1		1	ANK2	4	114213628	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	862026	114213628	76940648	347	141412											
ANK2	287	broad.mit.edu	37	chr4	114280135	114280135	+	Frame_Shift_Del	DEL	G	G	-													aagcactacatcttcctgcaGggggggcacgagccccacaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:114280134_114280134AG>A	uc003ibe.4	+	37	10460	c.10360_10360AG>A	c.(10360-10362)aggfs	p.R3454fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.R3469fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3454S(1)|p.T3457fs*8(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)		ATCTTCCTGCAGGGGGGGCAC	0.458													-	114280135	G	-	114280135	7	5	275	1	0	1	0	1	0	0	0	0	621	1000	35	0	10576	0	ANK2	4	114280135	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	66507	114280135	76874141	348	141413											
ANKRD50	57182	broad.mit.edu	37	chr4	125590728	125590728	+	Frame_Shift_Del	DEL	G	G	-													aggactgtgttgtggaagatGgggaaacaattgactgtcga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:125590727_125590727TG>T	uc010inw.3	-	3	4743	c.3705_3705CA>A	c.(3703-3705)ccafs	p.P1235fs	ANKRD50_uc011cgo.2_Frame_Shift_Del_p.P1056fs	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1235	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						TTGTGGAAGATGGGGAAACAA	0.398													-	125590728	G	-	125590728	7	5	275	1	0	1	0	1	0	0	0	0	677	1348	47	0	589	0	ANKRD50	4	125590728	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	11310593	125590728	65563548	349	141414											
SCLT1	132320	broad.mit.edu	37	chr4	129864163	129864164	+	Frame_Shift_Ins	INS	-	-	T													aaaatacctttactttggctINStttttttgagcctccagggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:129864162_129864163C>CT	uc003igp.2	-	16	2126_2127	c.1620_1621G>AG	c.(1618-1623)aaagccfs	p.K540fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.K204fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.K150fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356													T	129864164	-	T	129864163	7	5	275	1	0	1	1	0	0	0	0	0	13906	1606	56	0	466	0	SCLT1	4	129864163	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	4273435	129864163	61290113	350	141415											
RAB33B	83452	broad.mit.edu	37	chr4	140394218	140394218	+	Frame_Shift_Del	DEL	C	C	-													aaccattaatgcttagtcagCcccctgataatggaattatc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:140394217_140394217GC>G	uc003ihv.3	+	1	1016	c.627_627GC>G	c.(625-627)cagfs	p.Q209fs		NM_031296	NP_112586	Q9H082	RB33B_HUMAN	Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA.	209					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)					TGCTTAGTCAGCCCCCTGATA	0.378													-	140394218	C	-	140394218	7	5	275	1	0	1	0	1	0	0	0	0	12923	739	26	0	634	0	RAB33B	4	140394218	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	10530055	140394218	50760058	351	141416											
NR3C2	4306	broad.mit.edu	37	chr4	149356340	149356340	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtgtgatttccatgacTccactaaagtattgacagga	9	10	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:149356340T>G	uc003ilj.3	-	2	2007	c.1673A>C	c.(1672-1674)GAG>GCG	p.E558A	NR3C2_uc003ilk.3_Missense_Mutation_p.E558A|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	558	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTCCATGACTCCACTAAAGT	0.428													G	149356340	T	G	149356340	3	3	275	1	0	0	0	0	1	0	0	0	10631	1551	54	5	1313	5	NR3C2	4	149356340	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	8962122	149356340	41797936	352	141417											
CTSO	1519	broad.mit.edu	37	chr4	156850846	156850848	+	In_Frame_Del	DEL	TCT	TCT	-													gaagtgcttttgccatttcaTcttcttggtcactaccaaaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:156850846_156850848delTCT	uc003ipg.2	-	6	733_735	c.684_686delAGA	c.(682-687)GAAGAT>GAT	p.E228del		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	228					proteolysis	lysosome	cysteine-type endopeptidase activity				0	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)		TGCCATTTCATCTTCTTGGTCAC	0.365													-	156850848	TCT	-	156850846	7	5	275	1	0	1	0	1	0	0	0	0	4040	1435	50	0	291	0	CTSO	4	156850846	In_Frame_Del	DEL	TCT	TCGA-HU-A4GX-01A-12D-A25D-08	7494506	156850846	34303430	353	141418											
FSTL5	56884	broad.mit.edu	37	chr4	163032485	163032485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcctccttctttggttgGccttccttccgactccagaa	6	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:163032485G>A	uc003iqh.2	-	2	500	c.64C>T	c.(64-66)CCA>TCA	p.P22S	FSTL5_uc003iqi.2_Missense_Mutation_p.P22S|FSTL5_uc010iqv.2_Missense_Mutation_p.P22S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	22						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTTGGTTGGCCTTCCTTCC	0.413													A	163032485	G	A	163032485	3	1	275	1	0	0	0	0	1	0	0	0	6080	1203	42	2	2539	2	FSTL5	4	163032485	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6181639	163032485	28121791	354	141419											
TMEM192	201931	broad.mit.edu	37	chr4	166022023	166022023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaagcacacctgttaaaaAtgctaaaacaacaaacacga	4	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:166022023A>G	uc003iqz.3	-	3	295	c.196T>C	c.(196-198)TTT>CTT	p.F66L		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	transmembrane protein 192	66	Helical; (Potential).					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCTGTTAAAAATGCTAAAACA	0.373													G	166022023	A	G	166022023	3	3	275	1	0	0	0	0	1	0	0	0	16112	101	4	3	635	3	TMEM192	4	166022023	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2989538	166022023	25132253	355	141420											
TLL1	7092	broad.mit.edu	37	chr4	166935620	166935620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataccattctcccctcccGtgatgataatggcatacgtc	8	13	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:166935620G>A	uc003irh.1	+	8	1597	c.950G>A	c.(949-951)CGT>CAT	p.R317H	TLL1_uc011cjn.1_Missense_Mutation_p.R317H|TLL1_uc011cjo.1_Missense_Mutation_p.R141H	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	317	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R317C(1)		skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTCCCCTCCCGTGATGATAAT	0.438													A	166935620	G	A	166935620	3	1	275	1	0	0	0	0	1	0	0	0	15942	1145	40	1	980	1	TLL1	4	166935620	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	913597	166935620	24218656	356	141421											
CLCN3	1182	broad.mit.edu	37	chr4	170613412	170613412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgttgcctgttgctgcGgaaatatcttttcctacctc	7	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:170613412G>A	uc003isi.2	+	7	1386	c.877G>A	c.(877-879)GGA>AGA	p.G293R	CLCN3_uc003ish.2_Missense_Mutation_p.G293R|CLCN3_uc011cjz.1_Missense_Mutation_p.G276R|CLCN3_uc011cka.1_Missense_Mutation_p.G293R|CLCN3_uc003isj.1_Missense_Mutation_p.G266R	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	293	Helical; (By similarity).				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(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTGTTGCTGCGGAAATATCTT	0.373													A	170613412	G	A	170613412	3	1	275	1	0	0	0	0	1	0	0	0	3464	1117	39	1	899	1	CLCN3	4	170613412	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3677792	170613412	20540864	357	141422											
STOX2	56977	broad.mit.edu	37	chr4	184931728	184931728	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggagccaggaaaaccaccCgagagtttgccatcctatgg	11	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:184931728C>A	uc003ivz.1	+	3	3172	c.1737C>A	c.(1735-1737)CCC>CCA	p.P579P	STOX2_uc003iwa.1_Silent_p.P268P	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	579					embryo development|maternal placenta development						0		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)		GAAAACCACCCGAGAGTTTGC	0.502													A	184931728	C	A	184931728	2	1	275	1	0	0	0	0	0	0	0	1	15319	639	23	5		5	STOX2	4	184931728	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	14318316	184931728	6222548	358	141423											
SORBS2	8470	broad.mit.edu	37	chr4	186544971	186544971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcggtggttctagggttaCgggagacagcatgtcatccc	14	9	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr4:186544971C>T	uc003iyl.2	-	13	2458	c.1600G>A	c.(1600-1602)GTA>ATA	p.V534I	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.V634I|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.V438I|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.V648I|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	534						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		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)		TCTAGGGTTACGGGAGACAGC	0.542													T	186544971	C	T	186544971	3	4	275	1	0	0	0	0	1	0	0	0	14928	536	19	1	1738	1	SORBS2	4	186544971	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1613243	186544971	4609305	359	141424											
SLC12A7	10723	broad.mit.edu	37	chr5	1078056	1078056	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaagaaggagccgatgacGatgacccagggggagggcca	18	8	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:1078056G>A	uc003jbu.2	-	12	1587	c.1521C>T	c.(1519-1521)ATC>ATT	p.I507I		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	507	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	AGCCGATGACGATGACCCAGG	0.587													A	1078056	G	A	1078056	2	1	275	1	0	0	0	0	0	0	0	1	14388	1048	37	1		1	SLC12A7	5	1078056	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		1078056	179837204	360	141425											
FASTKD3	79072	broad.mit.edu	37	chr5	7867527	7867527	+	Frame_Shift_Del	DEL	T	T	-													actgtgcagtgtaatcagacTttccccaagaatacaaagat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:7867526_7867526CT>C	uc003jeb.3	-	1	843	c.671_671AG>G	c.(670-672)agtfs	p.S224fs	FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	224					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						TGTAATCAGACTTTCCCCAAG	0.423													-	7867527	T	-	7867527	7	5	275	1	0	1	0	1	0	0	0	0	5687	1609	56	0	1342	0	FASTKD3	5	7867527	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	6789471	7867527	173047733	361	141426											
CTNND2	1501	broad.mit.edu	37	chr5	11346635	11346635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaattggaggctgggccggCggcatagctggccctctgga	17	10	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:11346635C>T	uc003jfa.1	-	9	1622	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	CTNND2_uc010itt.2_Missense_Mutation_p.A402T|CTNND2_uc011cmy.1_Missense_Mutation_p.A156T|CTNND2_uc011cmz.1_Missense_Mutation_p.A60T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.A60T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	493					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GCTGGGCCGGCGGCATAGCTG	0.647													T	11346635	C	T	11346635	3	4	275	1	0	0	0	0	1	0	0	0	4020	768	27	1	2256	1	CTNND2	5	11346635	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3479108	11346635	169568625	362	141427											
FBXL7	23194	broad.mit.edu	37	chr5	15936592	15936592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgcatcagcttgacccGggaggcctccattaaactgt	10	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:15936592G>A	uc003jfn.1	+	4	1254	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258	LRR 4.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						AGCTTGACCCGGGAGGCCTCC	0.582													A	15936592	G	A	15936592	3	1	275	1	0	0	0	0	1	0	0	0	5724	1116	39	1	787	1	FBXL7	5	15936592	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4589957	15936592	164978668	363	141428											
MYO10	4651	broad.mit.edu	37	chr5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggaggagcccccccCttttttgtggagccagcctt	12	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:16694613C>T	uc003jft.3	-	27	4135	c.3667G>A	c.(3667-3669)GGG>AGG	p.G1223R	MYO10_uc011cnc.1_Missense_Mutation_p.G102R|MYO10_uc011cnd.1_Missense_Mutation_p.G580R|MYO10_uc011cne.1_Missense_Mutation_p.G580R|MYO10_uc010itx.2_Missense_Mutation_p.G846R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GAGCCCCCCCCTTTTTTGTGG	0.557													T	16694613	C	T	16694613	3	4	275	1	0	0	0	0	1	0	0	0	10062	681	24	4	2569	4	MYO10	5	16694613	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	758021	16694613	164220647	364	141429											
MYO10	4651	broad.mit.edu	37	chr5	16701205	16701205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctgccggaagtgatgGcaccgtcctcatagtcatcc	11	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:16701205G>T	uc003jft.3	-	25	3767	c.3299C>A	c.(3298-3300)GCC>GAC	p.A1100D	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Missense_Mutation_p.A457D|MYO10_uc011cne.1_Missense_Mutation_p.A457D|MYO10_uc010itx.2_Missense_Mutation_p.A723D	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1100					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GGAAGTGATGGCACCGTCCTC	0.637													T	16701205	G	T	16701205	3	4	275	1	0	0	0	0	1	0	0	0	10062	1203	42	5	2945	5	MYO10	5	16701205	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6592	16701205	164214055	365	141430											
AGXT2	64902	broad.mit.edu	37	chr5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacattgagggcgcaatgCgaaatgtctgaggagacacc	13	9	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:34998924C>T	uc003jjf.2	-	14	1524	c.1445G>A	c.(1444-1446)CGC>CAC	p.R482H	AGXT2_uc003jje.1_Missense_Mutation_p.R135H|AGXT2_uc011com.1_Missense_Mutation_p.R407H	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	482					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			ovary(3)|skin(1)	4	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)	GGGCGCAATGCGAAATGTCTG	0.368													T	34998924	C	T	34998924	3	4	275	1	0	0	0	0	1	0	0	0	405	768	27	1	103	1	AGXT2	5	34998924	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	18297719	34998924	145916336	366	141431											
SPEF2	79925	broad.mit.edu	37	chr5	35753739	35753739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcaggatctgcgagaccGcctgtgggacatttgtgatg	14	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:35753739G>A	uc003jjo.2	+	24	3455	c.3344G>A	c.(3343-3345)CGC>CAC	p.R1115H	SPEF2_uc003jjp.1_Missense_Mutation_p.R601H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1115					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCGAGACCGCCTGTGGGAC	0.478													A	35753739	G	A	35753739	3	1	275	1	0	0	0	0	1	0	0	0	15034	1087	38	1	3459	1	SPEF2	5	35753739	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	754815	35753739	145161521	367	141432											
CAPSL	133690	broad.mit.edu	37	chr5	35921187	35921187	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctttttcttggcctggatCgccatctctcggtcatggcg	11	12	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:35921187C>T	uc003jjt.1	-	2	131	c.36G>A	c.(34-36)GCG>GCA	p.A12A	CAPSL_uc003jju.1_Silent_p.A12A	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	12						cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGCCTGGATCGCCATCTCTC	0.612													T	35921187	C	T	35921187	2	4	275	1	0	0	0	0	0	0	0	1	2639	871	31	1		1	CAPSL	5	35921187	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	167448	35921187	144994073	368	141433											
SLC1A3	6507	broad.mit.edu	37	chr5	36679799	36679799	+	Frame_Shift_Del	DEL	G	G	-													tggaagacatgggtgtgattGgggggcagcttgccatgtac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:36679798_36679798TG>T	uc003jkj.4	+	6	1406	c.930_930TG>T	c.(928-930)attfs	p.I310fs	SLC1A3_uc011cox.2_Frame_Shift_Del_p.I203fs|SLC1A3_uc010iuy.3_Frame_Shift_Del_p.I310fs	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGC	0.522													-	36679799	G	-	36679799	7	5	275	1	0	1	0	1	0	0	0	0	14433	1348	47	0	970	0	SLC1A3	5	36679799	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	758612	36679799	144235461	369	141434											
C5orf42	65250	broad.mit.edu	37	chr5	37196015	37196015	+	Frame_Shift_Del	DEL	A	A	-													tctccagctgctccaggtctAaaaaatgcgatacctccttt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:37196014_37196014TA>T	uc011cpa.1	-	20	3988	c.3757_3757TA>A	c.(3757-3759)agafs	p.R1253fs	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.R328fs|C5orf42_uc011cpb.1_Frame_Shift_Del_p.R134fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1253								p.P1253S(1)		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)			GCTCCAGGTCTAAAAAATGCG	0.378													-	37196015	A	-	37196015	7	5	275	1	0	1	0	1	0	0	0	0	2301	359	13	0	5965	0	C5orf42	5	37196015	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	516216	37196015	143719245	370	141435											
OSMR	9180	broad.mit.edu	37	chr5	38869209	38869209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgtccttgaggacttaCcagagtgaaggtaagaagtg	13	6	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:38869209C>T	uc003jln.1	+	2	430	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	OSMR_uc003jlm.1_Silent_p.Y21Y	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	21					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					TGAGGACTTACCAGAGTGAAG	0.363													T	38869209	C	T	38869209	2	4	275	1	0	0	0	0	0	0	0	1	11292	518	18	4		4	OSMR	5	38869209	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1673194	38869209	142046051	371	141436											
OSMR	9180	broad.mit.edu	37	chr5	38923329	38923329	+	Frame_Shift_Del	DEL	A	A	-													ggattgcttgtttattagagAaaaaaacaggatactctcag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:38923328_38923328GA>G	uc003jln.2	+	12	2244	c.1842_1842GA>G	c.(1840-1842)gagfs	p.E614fs	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	614	Fibronectin type-III 3.				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)					GTTTATTAGAGAAAAAAACAG	0.368													-	38923329	A	-	38923329	7	5	275	1	0	1	0	1	0	0	0	0	11292	247	9	0	1927	0	OSMR	5	38923329	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	54120	38923329	141991931	372	141437											
PTGER4	5734	broad.mit.edu	37	chr5	40681484	40681484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctatttctacagccactAcgtggacaagcgattggcgg	11	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:40681484A>G	uc003jlz.2	+	2	981	c.389A>G	c.(388-390)TAC>TGC	p.Y130C		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	130	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						TACAGCCACTACGTGGACAAG	0.577											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	40681484	A	G	40681484	3	3	275	1	0	0	0	0	1	0	0	0	12745	391	14	3	391	3	PTGER4	5	40681484	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1758155	40681484	140233776	373	141438											
C5orf28	64417	broad.mit.edu	37	chr5	43446519	43446519	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggatatgatgtgaagtccaGgatataaataacatccaggg	11	6	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:43446519G>T	uc003jny.2	-	3	596	c.453C>A	c.(451-453)TCC>TCA	p.S151S	C5orf28_uc003jnv.3_Silent_p.S151S|C5orf28_uc003jnx.2_Silent_p.S151S	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	hypothetical protein LOC64417	151						integral to membrane					0	Lung NSC(6;2.07e-05)					GTGAAGTCCAGGATATAAATA	0.408													T	43446519	G	T	43446519	2	4	275	1	0	0	0	0	0	0	0	1	2289	987	35	5		5	C5orf28	5	43446519	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2765035	43446519	137468741	374	141439											
ITGA1	3672	broad.mit.edu	37	chr5	52204835	52204835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatgggaacagagaaggaGgagcaaggaaaagtgtatgt	15	3	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:52204835G>T	uc003jou.2	+	13	1615	c.1563G>T	c.(1561-1563)GAG>GAT	p.E521D	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.E52D	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	521	Extracellular (Potential).|FG-GAP 5.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGAGAAGGAGGAGCAAGGAA	0.388													T	52204835	G	T	52204835	3	4	275	1	0	0	0	0	1	0	0	0	7872	991	35	5	1613	5	ITGA1	5	52204835	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	8758316	52204835	128710425	375	141440											
SNX18	112574	broad.mit.edu	37	chr5	53815068	53815068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggagagcaagatcgAcggcttcaagtgcttcacca	14	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:53815068A>G	uc003jpj.3	+	1	1476	c.1286A>G	c.(1285-1287)GAC>GGC	p.D429G	SNX18_uc011cqg.1_Missense_Mutation_p.D429G|SNX18_uc003jpi.3_Missense_Mutation_p.D429G	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	429	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				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCAAGATCGACGGCTTCAAG	0.612													G	53815068	A	G	53815068	3	3	275	1	0	0	0	0	1	0	0	0	14889	275	10	3	1288	3	SNX18	5	53815068	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1610233	53815068	127100192	376	141441											
DHX29	54505	broad.mit.edu	37	chr5	54579256	54579256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttaagagtttcaacaatTgagtcccgatgtttaaatac	6	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:54579256T>C	uc003jpx.2	-	11	1860	c.1740A>G	c.(1738-1740)TCA>TCG	p.S580S	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	580							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTCAACAATTGAGTCCCGAT	0.398													C	54579256	T	C	54579256	2	2	275	1	0	0	0	0	0	0	0	1	4503	1799	63	3		3	DHX29	5	54579256	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	764188	54579256	126336004	377	141442											
IL31RA	133396	broad.mit.edu	37	chr5	55212718	55212718	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggaaaagttttgaggagCtcccagtttcacctgagatt	12	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:55212718C>A	uc003jql.2	+	15	2130	c.2065C>A	c.(2065-2067)CTC>ATC	p.L689I	IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc003jqo.2_Missense_Mutation_p.L547I	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	657	Cytoplasmic (Potential).				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			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGAGGAGCTCCCAGTTTC	0.527													A	55212718	C	A	55212718	3	1	275	1	0	0	0	0	1	0	0	0	7691	797	28	5	2123	5	IL31RA	5	55212718	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	633462	55212718	125702542	378	141443											
RGNEF	64283	broad.mit.edu	37	chr5	73169027	73169027	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgtgctggcagcgacAggaattttgtgatcgaccga	12	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:73169027A>C	uc011csq.1	+	21	2781	c.2770A>C	c.(2770-2772)AGG>CGG	p.R924R	RGNEF_uc003kcx.2_Silent_p.R924R|RGNEF_uc010izf.2_Silent_p.R924R|RGNEF_uc011csr.1_Silent_p.R611R	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	924	DH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGGCAGCGACAGGAATTTTGT	0.408													C	73169027	A	C	73169027	2	2	275	1	0	0	0	0	0	0	0	1	13283	179	7	5		5	RGNEF	5	73169027	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	17956309	73169027	107746233	379	141444											
HEXB	3074	broad.mit.edu	37	chr5	74011418	74011418	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaaccctactctgaatacaAcatacagcttccttactaca	2	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:74011418A>T	uc003kdf.3	+	8	1102	c.985A>T	c.(985-987)ACA>TCA	p.T329S	HEXB_uc003kdd.2_Missense_Mutation_p.T104S|HEXB_uc010izh.2_RNA|HEXB_uc003kdg.1_5'Flank|HEXB_uc010izi.1_5'Flank	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	329					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TCTGAATACAACATACAGCTT	0.353													T	74011418	A	T	74011418	3	4	275	1	0	0	0	0	1	0	0	0	7074	43	2	5	1015	5	HEXB	5	74011418	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	842391	74011418	106903842	380	141445											
AP3B1	8546	broad.mit.edu	37	chr5	77523225	77523225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtattgcatgggctgcAttcttcctaacatatggtga	9	7	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:77523225A>G	uc003kfj.2	-	5	632	c.507T>C	c.(505-507)AAT>AAC	p.N169N		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	169					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		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)		CATGGGCTGCATTCTTCCTAA	0.373									Hermansky-Pudlak_syndrome				G	77523225	A	G	77523225	2	3	275	1	0	0	0	0	0	0	0	1	744	214	8	3		3	AP3B1	5	77523225	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	3511807	77523225	103392035	381	141446											
PAPD4	167153	broad.mit.edu	37	chr5	78936937	78936937	+	Frame_Shift_Del	DEL	T	T	-													tgtttctttagaaagcagacTttttttggttgggtcctctt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:78936936_78936936CT>C	uc010jae.1	+	6	1007	c.589_589CT>C	c.(589-591)cttfs	p.L197fs	PAPD4_uc003kgb.2_Frame_Shift_Del_p.L197fs|PAPD4_uc010jaf.1_Frame_Shift_Del_p.L197fs|PAPD4_uc003kga.2_Frame_Shift_Del_p.L197fs|PAPD4_uc003kfz.2_Frame_Shift_Del_p.L197fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	197					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGAAAGCAGACTTTTTTTGGT	0.323													-	78936937	T	-	78936937	7	5	275	1	0	1	0	1	0	0	0	0	11424	1609	56	0	608	0	PAPD4	5	78936937	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1413712	78936937	101978323	382	141447											
CMYA5	202333	broad.mit.edu	37	chr5	79030062	79030062	+	Frame_Shift_Del	DEL	A	A	-													tgtagaacaaaaaaagacagAaaaagcacttcattcagatc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:79030061_79030061GA>G	uc003kgc.3	+	1	5545	c.5473_5473GA>G	c.(5473-5475)gaafs	p.E1825fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1825						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)		AAAAAAGACAGAAAAAGCACT	0.383													-	79030062	A	-	79030062	7	5	275	1	0	1	0	1	0	0	0	0	3590	246	9	0	5480	0	CMYA5	5	79030062	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	93125	79030062	101885198	383	141448											
THBS4	7060	broad.mit.edu	37	chr5	79368182	79368182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatggtgtgggggatgCctgtgacagttgtcctgatg	18	5	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:79368182C>T	uc003kgh.2	+	15	2125	c.1802C>T	c.(1801-1803)GCC>GTC	p.A601V	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	601	TSP type-3 5.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGGGGGATGCCTGTGACAGT	0.448													T	79368182	C	T	79368182	3	4	275	1	0	0	0	0	1	0	0	0	15853	739	26	2	1856	2	THBS4	5	79368182	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	338120	79368182	101547078	384	141449											
RASA1	5921	broad.mit.edu	37	chr5	86668008	86668008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatccaataaacgccttcGtcaggtgaagcttaattttc	7	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:86668008G>A	uc003kiw.2	+	13	1890	c.1772G>A	c.(1771-1773)CGT>CAT	p.R591H	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R414H|RASA1_uc011ctv.1_Missense_Mutation_p.R424H|RASA1_uc011ctw.1_Missense_Mutation_p.R425H|RASA1_uc010jaw.2_Missense_Mutation_p.R413H	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	591	C2.				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			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		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)		AAACGCCTTCGTCAGGTGAAG	0.353													A	86668008	G	A	86668008	3	1	275	1	0	0	0	0	1	0	0	0	13060	1145	40	1	1834	1	RASA1	5	86668008	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	7299826	86668008	94247252	385	141450											
GLRX	2745	broad.mit.edu	37	chr5	95152333	95152334	+	Splice_Site	INS	-	-	A													ataaagactcgaggcacctaINSaaaaagcacacgacccagga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:95152332_95152333T>TA	uc021ybn.1	-	2	419	c.208_splice	c.e2-1	p.V70_splice	GLRX_uc003kln.4_Splice_Site_p.V70_splice|GLRX_uc003klo.4_Splice_Site_p.V70_splice|GLRX_uc021ybo.1_Splice_Site_p.V70_splice	NM_001243659	NP_001230588	P35754	GLRX1_HUMAN	Homo sapiens glutaredoxin (thioltransferase) (GLRX), transcript variant 4, mRNA.	70	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein N-terminus binding|protein disulfide oxidoreductase activity			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-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;2.62e-16)	Glutathione(DB00143)	TCGAGGCACCTAAAAAAGCACA	0.411													A	95152334	-	A	95152333	8	5	275	1	0	1	1	0	0	0	1	0	6459	377	13	0		0	GLRX	5	95152333	Splice_Site	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	8484325	95152333	85762927	386	141451											
SLCO6A1	133482	broad.mit.edu	37	chr5	101813379	101813379	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagagggggtaaaacttgCctaaatagataccagctgag	11	6	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:101813379C>T	uc003knn.2	-	3	974	c.802_splice	c.e3+1	p.G268_splice	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Splice_Site_p.G268_splice|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		GTAAAACTTGCCTAAATAGAT	0.388													T	101813379	C	T	101813379	5	4	275	1	0	0	0	0	0	0	1	0	14732	753	26	2	1400	2	SLCO6A1	5	101813379	Splice_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6661046	101813379	79101881	387	141452											
CAMK4	814	broad.mit.edu	37	chr5	110819803	110819803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccaggagagccacaAggctagccgagacccttctc	10	15	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:110819803A>G	uc011cvj.1	+	12	1160	c.1061A>G	c.(1060-1062)AAG>AGG	p.K354R	CAMK4_uc003kpf.2_Missense_Mutation_p.K354R|CAMK4_uc010jbv.2_Missense_Mutation_p.K157R|CAMK4_uc003kpg.2_Missense_Mutation_p.K45R	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	354					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GAGAGCCACAAGGCTAGCCGA	0.567													G	110819803	A	G	110819803	3	3	275	1	0	0	0	0	1	0	0	0	2605	72	3	3	1103	3	CAMK4	5	110819803	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	9006424	110819803	70095457	388	141453											
KCNN2	3781	broad.mit.edu	37	chr5	113831789	113831789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagagctacgacaagcaCgtcacttacaatgctgagcg	11	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:113831789C>T	uc003kqo.2	+	8	2107	c.1650C>T	c.(1648-1650)CAC>CAT	p.H550H	KCNN2_uc003kqp.2_Silent_p.H202H|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	550						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		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)		ACGACAAGCACGTCACTTACA	0.547													T	113831789	C	T	113831789	2	4	275	1	0	0	0	0	0	0	0	1	8079	535	19	1		1	KCNN2	5	113831789	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3011986	113831789	67083471	389	141454											
DMXL1	1657	broad.mit.edu	37	chr5	118469635	118469635	+	Frame_Shift_Del	DEL	T	T	-													gttgataacccagagcaaccTtttgatgctctaaatattga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:118469635delT	uc003ksd.2	+	12	2197	c.2016delT	c.(2014-2016)CCTfs	p.P672fs	DMXL1_uc010jcl.1_Frame_Shift_Del_p.P672fs|DMXL1_uc003ksc.1_Frame_Shift_Del_p.P672fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	672										ovary(2)	2		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)		CAGAGCAACCTTTTGATGCTC	0.383													-	118469635	T	-	118469635	7	5	275	1	0	1	0	1	0	0	0	0	4594	1596	56	0	2062	0	DMXL1	5	118469635	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	4637846	118469635	62445625	390	141455											
HSD17B4	3295	broad.mit.edu	37	chr5	118810104	118810106	+	In_Frame_Del	DEL	GAA	GAA	-													cctttccctcagattcagtgGaagaaggagagaaggttgtg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:118810103_118810105GGAA>G	uc003ksj.3	+	3	361_363	c.228_230GGAA>G	c.(226-231)gtggaa>gtGa	p.E78del	HSD17B4_uc011cwh.2_In_Frame_Del_p.E60del|HSD17B4_uc011cwg.2_In_Frame_Del_p.E54del|HSD17B4_uc011cwi.2_In_Frame_Del_p.E103del|HSD17B4_uc003ksk.4_5'UTR|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	78	(3R)-hydroxyacyl-CoA dehydrogenase.				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	p.E77E(1)		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)	CAGATTCAGTGGAAGAAGGAGAG	0.419													-	118810106	GAA	-	118810104	7	5	275	1	0	1	0	1	0	0	0	0	7386	1175	41	0	243	0	HSD17B4	5	118810104	In_Frame_Del	DEL	GAA	TCGA-HU-A4GX-01A-12D-A25D-08	340469	118810104	62105156	391	141456											
LMNB1	4001	broad.mit.edu	37	chr5	126156669	126156669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctcaagtcgtagtgtaCgtacaactagaggaaagcgg	11	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:126156669C>T	uc003kud.1	+	7	1596	c.1228C>T	c.(1228-1230)CGT>TGT	p.R410C	LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.R200C	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	410	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TCGTAGTGTACGTACAACTAG	0.448													T	126156669	C	T	126156669	3	4	275	1	0	0	0	0	1	0	0	0	8849	536	19	1	1254	1	LMNB1	5	126156669	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	7346565	126156669	54758591	392	141457											
MEGF10	84466	broad.mit.edu	37	chr5	126776486	126776486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatatgccaatgtcaaaaCggagctgactgcgaccacat	9	11	1	2	rs151316424		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:126776486C>T	uc003kuh.3	+	19	2651	c.2289C>T	c.(2287-2289)AAC>AAT	p.N763N	MEGF10_uc003kui.3_Silent_p.N763N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	763	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 14.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		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)		AATGTCAAAACGGAGCTGACT	0.512													T	126776486	C	T	126776486	2	4	275	1	0	0	0	0	0	0	0	1	9460	535	19	1		1	MEGF10	5	126776486	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	619817	126776486	54138774	393	141458											
FSTL4	23105	broad.mit.edu	37	chr5	132534947	132534947	+	Frame_Shift_Del	DEL	C	C	-													ccctcatgattctgtgggtaCccccccagggctgagctggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:132534946_132534946AC>A	uc003kyn.1	-	15	2588	c.2370_2370GT>T	c.(2368-2370)ggtfs	p.G790fs	FSTL4_uc003kym.1_Frame_Shift_Del_p.G439fs	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	790						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTGGGTACCCCCCCAGG	0.602													-	132534947	C	-	132534947	7	5	275	1	0	1	0	1	0	0	0	0	6079	507	18	0	163	0	FSTL4	5	132534947	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	5758461	132534947	48380313	394	141459											
H2AFY	9555	broad.mit.edu	37	chr5	134724774	134724774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttcttcttcccaccgcGgctcgacatggcggtggccc	12	16	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:134724774G>A	uc003lam.1	-	2	220	c.10C>T	c.(10-12)CGC>TGC	p.R4C	H2AFY_uc003lao.1_Missense_Mutation_p.R4C|H2AFY_uc003lan.1_Missense_Mutation_p.R4C|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.R4C|H2AFY_uc003las.1_Missense_Mutation_p.R4C|H2AFY_uc003lat.1_Missense_Mutation_p.R4C	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	4	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCCACCGCGGCTCGACATG	0.622													A	134724774	G	A	134724774	3	1	275	1	0	0	0	0	1	0	0	0	6929	1116	39	1	1235	1	H2AFY	5	134724774	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2189827	134724774	46190486	395	141460											
PSD2	84249	broad.mit.edu	37	chr5	139221925	139221925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcagatgatctggagCggattgaggcccggctggcc	17	10	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:139221925C>T	uc003leu.1	+	15	2387	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	728					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTGGAGCGGATTGAGGC	0.522													T	139221925	C	T	139221925	3	4	275	1	0	0	0	0	1	0	0	0	12647	759	27	1	2236	1	PSD2	5	139221925	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4497151	139221925	41693335	396	141461											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139876372	139876372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaatattgaaagaacTgcagaaagtggaaaggcagt	12	3	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:139876372T>G	uc003lfs.1	+	15	2637	c.2513T>G	c.(2512-2514)CTG>CGG	p.L838R	ANKHD1_uc003lfq.1_Missense_Mutation_p.L857R|ANKHD1_uc003lfr.2_Missense_Mutation_p.L838R|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Missense_Mutation_p.L318R|ANKHD1_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	838						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAAGAACTGCAGAAAGTG	0.373													G	139876372	T	G	139876372	3	3	275	1	0	0	0	0	1	0	0	0	629	1580	55	5	2571	5	ANKHD1-EIF4EBP3	5	139876372	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	654447	139876372	41038888	397	141462											
PCDHA1	56147	broad.mit.edu	37	chr5	140166120	140166120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtaaatctgcagaatgGcattttgtttgtgaattctc	11	5	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140166120G>A	uc003lhb.2	+	1	245	c.245G>A	c.(244-246)GGC>GAC	p.G82D	PCDHA1_uc003lha.2_Missense_Mutation_p.G82D|PCDHA1_uc003lgz.2_Missense_Mutation_p.G82D	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	82	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGAATGGCATTTTGTTT	0.602													A	140166120	G	A	140166120	3	1	275	1	0	0	0	0	1	0	0	0	11519	1203	42	2	247	2	PCDHA1	5	140166120	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	289748	140166120	40749140	398	141463											
PCDHA5	56143	broad.mit.edu	37	chr5	140203211	140203211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcgcctggcagtgcGcgcatcccgttccgcgtggg	15	16	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140203211G>A	uc003lhl.2	+	1	1851	c.1851G>A	c.(1849-1851)GCG>GCA	p.A617A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A617A|PCDHA5_uc003lhj.1_Silent_p.A617A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	617	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCAGTGCGCGCATCCCGT	0.652													A	140203211	G	A	140203211	2	1	275	1	0	0	0	0	0	0	0	1	11527	1074	38	1		1	PCDHA5	5	140203211	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	37091	140203211	40712049	399	141464											
PCDHA7	56141	broad.mit.edu	37	chr5	140214306	140214306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgatcgtggaaaggcCgctgcaggttttccatgtgg	17	7	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140214306C>T	uc003lhq.2	+	1	338	c.338C>T	c.(337-339)CCG>CTG	p.P113L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P113L	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	113	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAAGGCCGCTGCAGGTT	0.567													T	140214306	C	T	140214306	3	4	275	1	0	0	0	0	1	0	0	0	11529	652	23	1	340	1	PCDHA7	5	140214306	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	11095	140214306	40700954	400	141465											
PCDHA9	9752	broad.mit.edu	37	chr5	140229805	140229805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgaggggcactgacggCgcagtgagcgagatggtgct	19	8	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140229805C>T	uc003lhu.2	+	1	2449	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.G575G	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	575	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGACGGCGCAGTGAGCG	0.672													T	140229805	C	T	140229805	2	4	275	1	0	0	0	0	0	0	0	1	11531	755	27	1		1	PCDHA9	5	140229805	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	15499	140229805	40685455	401	141466											
PCDHA10	56139	broad.mit.edu	37	chr5	140237004	140237004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctgcgttcgcgcagtcCgagtacacggtgttcgtgaa	14	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140237004C>T	uc003lhx.2	+	1	1371	c.1371C>T	c.(1369-1371)TCC>TCT	p.S457S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.S457S|PCDHA10_uc011dad.1_Silent_p.S457S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	457	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGTCCGAGTACACGG	0.682													T	140237004	C	T	140237004	2	4	275	1	0	0	0	0	0	0	0	1	11520	639	23	1		1	PCDHA10	5	140237004	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	7199	140237004	40678256	402	141467											
PCDHA13	56136	broad.mit.edu	37	chr5	140262153	140262153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtgtgggcggagcgcGgagtgcagcatccacctgga	18	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140262153G>A	uc003lif.2	+	1	300	c.300G>A	c.(298-300)GCG>GCA	p.A100A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A100A|PCDHA13_uc003lid.2_Silent_p.A100A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTGCAGCA	0.557													A	140262153	G	A	140262153	2	1	275	1	0	0	0	0	0	0	0	1	11523	1103	39	1		1	PCDHA13	5	140262153	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	25149	140262153	40653107	403	141468											
PCDHA13	56136	broad.mit.edu	37	chr5	140263878	140263878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggagagcggccaagcGccacaggcttcgtcgagggc	17	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140263878G>A	uc003lif.2	+	1	2025	c.2025G>A	c.(2023-2025)GCG>GCA	p.A675A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A675A|PCDHA13_uc003lid.2_Silent_p.A675A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	675	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A675V(1)		ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCCAAGCGCCACAGGCTT	0.657													A	140263878	G	A	140263878	2	1	275	1	0	0	0	0	0	0	0	1	11523	1074	38	1		1	PCDHA13	5	140263878	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1725	140263878	40651382	404	141469											
PCDHB1	29930	broad.mit.edu	37	chr5	140431111	140431111	+	Frame_Shift_Del	DEL	T	T	-													gcaagtgggatctcttctcaTttttctgtgcatatctgtgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140431110_140431110AT>A	uc003lik.1	+	0	132	c.55_55AT>A	c.(55-57)attfs	p.I19fs		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	19					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTCTTCTCATTTTTCTGTG	0.517													-	140431111	T	-	140431111	7	5	275	1	0	1	0	1	0	0	0	0	11534	1493	52	0	58	0	PCDHB1	5	140431111	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	167233	140431111	40484149	405	141470											
PCDHB5	26167	broad.mit.edu	37	chr5	140517042	140517042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccgctgccggaggcgGccccggcccaggcccaggcc	15	20	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140517042G>A	uc003liq.2	+	1	2243	c.2026G>A	c.(2026-2028)GCC>ACC	p.A676T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	676	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGGAGGCGGCCCCGGCCCA	0.692													A	140517042	G	A	140517042	3	1	275	1	0	0	0	0	1	0	0	0	11545	1203	42	2	2028	2	PCDHB5	5	140517042	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	85931	140517042	40398218	406	141471											
PCDHB14	56122	broad.mit.edu	37	chr5	140604549	140604549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcaactactcgctgcTgccgccccaggaccggcacc	10	19	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140604549T>C	uc003ljb.2	+	1	1472	c.1472T>C	c.(1471-1473)CTG>CCG	p.L491P	PCDHB14_uc011dal.1_Missense_Mutation_p.L338P	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	491	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACTCGCTGCTGCCGCCCCAG	0.652													C	140604549	T	C	140604549	3	2	275	1	0	0	0	0	1	0	0	0	11539	1580	55	3	1474	3	PCDHB14	5	140604549	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	87507	140604549	40310711	407	141472											
TAF7	6879	broad.mit.edu	37	chr5	140698650	140698650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttgagctcatccagtAcagcctgaaatctgttcttg	8	9	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140698650A>G	uc003ljg.2	-	1	1702	c.962T>C	c.(961-963)GTA>GCA	p.V321A		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	321	Potential.				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				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCATCCAGTACAGCCTGAAA	0.443													G	140698650	A	G	140698650	3	3	275	1	0	0	0	0	1	0	0	0	15529	391	14	3	91	3	TAF7	5	140698650	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	94101	140698650	40216610	408	141473											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750742	140750742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcccgctggctcctccGtattaaaagtgatggccatt	9	13	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140750742G>A	uc003ljw.1	+	1	781	c.781G>A	c.(781-783)GTA>ATA	p.V261I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.V261I|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	261	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCCTCCGTATTAAAAGT	0.463													A	140750742	G	A	140750742	3	1	275	1	0	0	0	0	1	0	0	0	11564	1145	40	1	783	1	PCDHGB3	5	140750742	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	52092	140750742	40164518	409	141474											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773876	140773876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggacacgctgcagggggCgcccctgtcctcgtatatct	13	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140773876C>T	uc003lkd.1	+	1	2394	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A499V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	499	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGGGGCGCCCCTGTCC	0.567													T	140773876	C	T	140773876	3	4	275	1	0	0	0	0	1	0	0	0	11560	768	27	1	1498	1	PCDHGA8	5	140773876	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	23134	140773876	40141384	410	141475											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783008	140783008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctattgatccggatgttggCgtgaactccctccagagcta	11	11	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140783008C>T	uc003lkh.1	+	1	489	c.489C>T	c.(487-489)GGC>GGT	p.G163G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.G163G	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	163	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATGTTGGCGTGAACTCCC	0.527													T	140783008	C	T	140783008	2	4	275	1	0	0	0	0	0	0	0	1	11561	755	27	1		1	PCDHGA9	5	140783008	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9132	140783008	40132252	411	141476											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811073	140811073	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcagcccgagtaccgcgcGagcgttccggagaatctggc	14	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140811073G>A	uc003lkt.1	+	1	916	c.747G>A	c.(745-747)GCG>GCA	p.A249A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.A249A	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	249	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTACCGCGCGAGCGTTCCGG	0.632													A	140811073	G	A	140811073	2	1	275	1	0	0	0	0	0	0	0	1	11553	1045	37	1		1	PCDHGA12	5	140811073	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	28065	140811073	40104187	412	141477											
PCDHGC5	56097	broad.mit.edu	37	chr5	140868902	140868902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgtctgggcagcttcGttactcagtggtggaggagt	17	7	2	0	rs138015049		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:140868902G>A	uc003lla.1	+	1	95	c.95G>A	c.(94-96)CGT>CAT	p.R32H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.R32H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	32	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGCTTCGTTACTCAGTG	0.592													A	140868902	G	A	140868902	3	1	275	1	0	0	0	0	1	0	0	0	11571	1145	40	1	97	1	PCDHGC5	5	140868902	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	57829	140868902	40046358	413	141478											
ARAP3	64411	broad.mit.edu	37	chr5	141051513	141051513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcttcaggctctgcacCttggagatcccagaacccag	9	15	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:141051513C>A	uc003llm.2	-	11	1698	c.1620G>T	c.(1618-1620)AAG>AAT	p.K540N	ARAP3_uc011dbe.1_Missense_Mutation_p.K202N|ARAP3_uc003lln.2_Missense_Mutation_p.K462N	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	540	Arf-GAP.				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			breast(5)|ovary(1)|large_intestine(1)	7						GGCTCTGCACCTTGGAGATCC	0.478													A	141051513	C	A	141051513	3	1	275	1	0	0	0	0	1	0	0	0	840	680	24	5	3106	5	ARAP3	5	141051513	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	182611	141051513	39863747	414	141479											
KCTD16	57528	broad.mit.edu	37	chr5	143853300	143853300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaaagaaggggagagcGgcacgtcttgcaatgacctc	14	9	1	4	rs139920765		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:143853300G>A	uc003lnm.1	+	4	1539	c.910G>A	c.(910-912)GGC>AGC	p.G304S	KCTD16_uc003lnn.1_Missense_Mutation_p.G304S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	304						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGGGGAGAGCGGCACGTCTTG	0.567													A	143853300	G	A	143853300	3	1	275	1	0	0	0	0	1	0	0	0	8103	1116	39	1	916	1	KCTD16	5	143853300	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2801787	143853300	37061960	415	141480											
JAKMIP2	9832	broad.mit.edu	37	chr5	146997527	146997527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaatctgacagtcatActctctgctcttcctcagca	6	13	5	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:146997527A>G	uc003loq.1	-	19	2675	c.2293T>C	c.(2293-2295)TAT>CAT	p.Y765H	JAKMIP2_uc011dbx.1_Missense_Mutation_p.Y723H|JAKMIP2_uc003lor.1_Missense_Mutation_p.Y744H|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Y765H	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	765	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGTCATACTCTCTGCTC	0.463													G	146997527	A	G	146997527	3	3	275	1	0	0	0	0	1	0	0	0	7941	391	14	3	151	3	JAKMIP2	5	146997527	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	3144227	146997527	33917733	416	141481											
ABLIM3	22885	broad.mit.edu	37	chr5	148563152	148563152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgcttcacctgtcaaGgtaggaggctcagctccccc	10	14	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:148563152G>T	uc003lpy.2	+	3	402	c.151G>T	c.(151-153)GTA>TTA	p.V51L	ABLIM3_uc003lpz.1_Missense_Mutation_p.V51L|ABLIM3_uc003lqa.1_Missense_Mutation_p.K32N|ABLIM3_uc003lqb.2_Missense_Mutation_p.V51L|ABLIM3_uc003lqc.1_Missense_Mutation_p.V51L|ABLIM3_uc003lqd.1_Missense_Mutation_p.V51L|ABLIM3_uc003lqf.2_Missense_Mutation_p.V51L|ABLIM3_uc003lqe.1_Missense_Mutation_p.V51L	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	51	LIM zinc-binding 1.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGTCAAGGTAGGAGGCT	0.542													T	148563152	G	T	148563152	3	4	275	1	0	0	0	0	1	0	0	0	96	1014	35	5	157	5	ABLIM3	5	148563152	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1565625	148563152	32352108	417	141482											
SLC6A7	6534	broad.mit.edu	37	chr5	149581992	149581992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctttgcctcctacaacaCgtttcaccagaacatctata	3	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:149581992C>T	uc003lrr.2	+	7	1312	c.941C>T	c.(940-942)ACG>ATG	p.T314M		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	314						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCCTACAACACGTTTCACCAG	0.592													T	149581992	C	T	149581992	3	4	275	1	0	0	0	0	1	0	0	0	14689	536	19	1	967	1	SLC6A7	5	149581992	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1018840	149581992	31333268	418	141483											
TNIP1	10318	broad.mit.edu	37	chr5	150422141	150422141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggccaggaggagcttgCggtcaaagtcacgctgcttc	13	11	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:150422141C>T	uc003ltf.2	-	11	1683	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.R365H|TNIP1_uc010jhn.2_Missense_Mutation_p.R365H|TNIP1_uc011dco.1_Missense_Mutation_p.R365H|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.R365H|TNIP1_uc003ltg.2_Missense_Mutation_p.R312H|TNIP1_uc003ltj.2_Missense_Mutation_p.R365H|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Missense_Mutation_p.R312H|TNIP1_uc010jhp.1_Missense_Mutation_p.R312H|TNIP1_uc010jhr.1_Missense_Mutation_p.R365H|TNIP1_uc003ltk.2_Missense_Mutation_p.R365H	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	365	Potential.|Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGAGCTTGCGGTCAAAGTC	0.567													T	150422141	C	T	150422141	3	4	275	1	0	0	0	0	1	0	0	0	16311	768	27	1	848	1	TNIP1	5	150422141	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	840149	150422141	30493119	419	141484											
SLC36A3	285641	broad.mit.edu	37	chr5	150660654	150660654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacttgggagatggcaaaCgggatgatgatctcagctgg	15	7	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:150660654C>T	uc003ltw.2	-	9	1484	c.1065G>A	c.(1063-1065)CCG>CCA	p.P355P	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.P340P|SLC36A3_uc003ltx.2_Silent_p.P396P	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	355	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATGGCAAACGGGATGATGA	0.522													T	150660654	C	T	150660654	2	4	275	1	0	0	0	0	0	0	0	1	14595	523	19	1		1	SLC36A3	5	150660654	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	238513	150660654	30254606	420	141485											
KIF4B	285643	broad.mit.edu	37	chr5	154395428	154395430	+	In_Frame_Del	DEL	AAG	AAG	-													atggaagcagaaaaaagacaAagaagtaatacagttgaaag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:154395427_154395429AAAG>A	uc010jih.1	+	0	2168_2170	c.2008_2010AAAG>A	c.(2008-2010)aaa>A	p.K670del		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	670	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)			GAAAAAAGACAAAGAAGTAATAC	0.394													-	154395430	AAG	-	154395428	7	5	275	1	0	1	0	1	0	0	0	0	8304	14	1	0	2011	0	KIF4B	5	154395428	In_Frame_Del	DEL	AAG	TCGA-HU-A4GX-01A-12D-A25D-08	3734774	154395428	26519832	421	141486											
CCDC99	54908	broad.mit.edu	37	chr5	169028407	169028410	+	Frame_Shift_Del	DEL	AGAA	AGAA	-													agtttatcgattaccgcctcAgaaagaggagacacagtcct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:169028406_169028409CAGAA>C	uc003mae.4	+	10	1726_1729	c.1447_1450CAGAA>C	c.(1447-1452)cagaaafs	p.Q483fs	CCDC99_uc010jjj.3_Frame_Shift_Del_p.Q412fs|CCDC99_uc011deq.2_Frame_Shift_Del_p.Q300fs|CCDC99_uc010jjk.3_Frame_Shift_Del_p.Q209fs	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	483					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTACCGCCTCAGAAAGAGGAGAC	0.446													-	169028410	AGAA	-	169028407	7	5	275	1	0	1	0	1	0	0	0	0	2876	188	7	0	1486	0	CCDC99	5	169028407	Frame_Shift_Del	DEL	AGAA	TCGA-HU-A4GX-01A-12D-A25D-08	14632979	169028407	11886853	422	141487											
B4GALT7	11285	broad.mit.edu	37	chr5	177035954	177035954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgggtacaagacatttcGccacctgcatgacccagcct	8	14	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:177035954G>A	uc003mhy.2	+	5	807	c.767G>A	c.(766-768)CGC>CAC	p.R256H	B4GALT7_uc003mhz.2_Missense_Mutation_p.R142H	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	256	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	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)			AAGACATTTCGCCACCTGCAT	0.607													A	177035954	G	A	177035954	3	1	275	1	0	0	0	0	1	0	0	0	1276	1087	38	1	785	1	B4GALT7	5	177035954	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	8007547	177035954	3879306	423	141488											
HNRNPAB	3182	broad.mit.edu	37	chr5	177637616	177637616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcagaataactacaagCcatactgaggcggcagcagg	11	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:177637616C>T	uc003miu.2	+	8	1248	c.991C>T	c.(991-993)CCA>TCA	p.P331S	HNRNPAB_uc003miv.2_Missense_Mutation_p.P284S|HNRNPAB_uc010jks.2_Missense_Mutation_p.P282S|HNRNPAB_uc003miw.2_Missense_Mutation_p.P331S|HNRNPAB_uc003mix.2_Missense_Mutation_p.P284S|AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Intron|AGXT2L2_uc003miz.2_Intron|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	331					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						TAACTACAAGCCATACTGAGG	0.423													T	177637616	C	T	177637616	3	4	275	1	0	0	0	0	1	0	0	0	7261	739	26	2	1017	2	HNRNPAB	5	177637616	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	601662	177637616	3277644	424	141489											
GRM6	2916	broad.mit.edu	37	chr5	178413488	178413488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacggccaggaggagCggcggggctgcccaggggga	20	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr5:178413488C>T	uc003mjr.2	-	8	1946	c.1767G>A	c.(1765-1767)CCG>CCA	p.P589P	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.P172P|GRM6_uc003mjs.1_Silent_p.P209P	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	589	Helical; Name=1; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		CCAGGAGGAGCGGCGGGGCTG	0.716													T	178413488	C	T	178413488	2	4	275	1	0	0	0	0	0	0	0	1	6801	755	27	1		1	GRM6	5	178413488	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	775872	178413488	2501772	425	141490											
CDYL	9425	broad.mit.edu	37	chr6	4892607	4892607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggcttagctgttaacGggaaaggtgagtgtctaggg	15	7	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:4892607G>A	uc003mwi.2	+	4	978	c.847G>A	c.(847-849)GGG>AGG	p.G283R	CDYL_uc003mwj.2_Missense_Mutation_p.G229R|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.G97R|CDYL_uc011dhy.1_Missense_Mutation_p.G97R	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	283					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGCTGTTAACGGGAAAGGTGA	0.632													A	4892607	G	A	4892607	3	1	275	1	0	0	0	0	1	0	0	0	3185	1116	39	1	691	1	CDYL	6	4892607	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		4892607	166222460	426	141491											
RPP40	10799	broad.mit.edu	37	chr6	4995424	4995424	+	Frame_Shift_Del	DEL	T	T	-													cttttcgaaaaccatgttcaTttttttcccaagaaacaggg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:4995423_4995423AT>A	uc003mwl.3	-	7	1016	c.981_981AT>T	c.(979-981)aatfs	p.N327fs	RPP40_uc003mwm.3_Frame_Shift_Del_p.N304fs	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	327					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)				AACCATGTTCATTTTTTTCCC	0.393													-	4995424	T	-	4995424	7	5	275	1	0	1	0	1	0	0	0	0	13614	1493	52	0	115	0	RPP40	6	4995424	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	102817	4995424	166119643	427	141492											
RREB1	6239	broad.mit.edu	37	chr6	7231151	7231151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatcgacctgtccatccCcaagaacttcaggaaagggg	10	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7231151C>T	uc003mxc.2	+	10	3209	c.2819C>T	c.(2818-2820)CCC>CTC	p.P940L	RREB1_uc003mxb.2_Missense_Mutation_p.P940L|RREB1_uc010jnx.2_Missense_Mutation_p.P940L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	940					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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGTCCATCCCCAAGAACTTC	0.597													T	7231151	C	T	7231151	3	4	275	1	0	0	0	0	1	0	0	0	13679	623	22	4	2845	4	RREB1	6	7231151	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2235727	7231151	163883916	428	141493											
RREB1	6239	broad.mit.edu	37	chr6	7231823	7231823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgaggagccgaccccGcgccaacagcggcggggtgg	20	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7231823G>A	uc003mxc.2	+	10	3881	c.3491G>A	c.(3490-3492)CGC>CAC	p.R1164H	RREB1_uc003mxb.2_Missense_Mutation_p.R1164H|RREB1_uc010jnx.2_Missense_Mutation_p.R1164H	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1164					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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCGACCCCGCGCCAACAGC	0.662													A	7231823	G	A	7231823	3	1	275	1	0	0	0	0	1	0	0	0	13679	1087	38	1	3517	1	RREB1	6	7231823	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	672	7231823	163883244	429	141494											
RREB1	6239	broad.mit.edu	37	chr6	7246910	7246910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgacggcgcggaagaggaCgcgtcgagcaaccagagcct	16	13	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7246910C>T	uc003mxc.2	+	11	4452	c.4062C>T	c.(4060-4062)GAC>GAT	p.D1354D	RREB1_uc003mxb.2_Silent_p.D1409D|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1354					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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGAAGAGGACGCGTCGAGCA	0.706													T	7246910	C	T	7246910	2	4	275	1	0	0	0	0	0	0	0	1	13679	535	19	1		1	RREB1	6	7246910	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	15087	7246910	163868157	430	141495											
DSP	1832	broad.mit.edu	37	chr6	7585548	7585548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgattgaccaagacatgGccaccaggctgaagcctgct	12	11	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:7585548G>A	uc003mxp.1	+	24	8332	c.8053G>A	c.(8053-8055)GCC>ACC	p.A2685T	DSP_uc003mxq.1_Missense_Mutation_p.A2086T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2685	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAAGACATGGCCACCAGGCT	0.557													A	7585548	G	A	7585548	3	1	275	1	0	0	0	0	1	0	0	0	4781	1203	42	2	8147	2	DSP	6	7585548	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	338638	7585548	163529519	431	141496											
NEDD9	4739	broad.mit.edu	37	chr6	11192590	11192590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcaccccttttgtaggCgggatgtcatacaccccttg	8	14	3	0	rs76565582	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:11192590C>T	uc003mzv.2	-	4	818	c.651G>A	c.(649-651)CCG>CCA	p.P217P	NEDD9_uc010joz.2_Silent_p.P217P|NEDD9_uc003mzw.3_Silent_p.P71P	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	217	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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTTTTGTAGGCGGGATGTCAT	0.512													T	11192590	C	T	11192590	2	4	275	1	0	0	0	0	0	0	0	1	10313	755	27	1		1	NEDD9	6	11192590	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3607042	11192590	159922477	432	141497											
GMPR	2766	broad.mit.edu	37	chr6	16295240	16295240	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctatcgtcttccagagcCtctgagggtaagactgtgga	11	10	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:16295240C>A	uc003nbs.2	+	9	975	c.861C>A	c.(859-861)GCC>GCA	p.A287A		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	287					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CTTCCAGAGCCTCTGAGGGTA	0.498													A	16295240	C	A	16295240	2	1	275	1	0	0	0	0	0	0	0	1	6496	668	24	5		5	GMPR	6	16295240	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5102650	16295240	154819827	433	141498											
DEK	7913	broad.mit.edu	37	chr6	18237647	18237647	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgattcttcttggtggtgCtgctatctgctttcttaaca	8	8	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:18237647C>G	uc003ncr.1	-	8	1056	c.863G>C	c.(862-864)AGC>ACC	p.S288T	DEK_uc011djf.1_Missense_Mutation_p.S254T|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	288					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			kidney(1)	1	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)			CTTGGTGGTGCTGCTATCTGC	0.308			T	NUP214	AML								G	18237647	C	G	18237647	3	3	275	1	0	0	0	0	1	0	0	0	4424	797	28	5	280	5	DEK	6	18237647	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1942407	18237647	152877420	434	141499											
FAM65B	9750	broad.mit.edu	37	chr6	24848384	24848384	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctccacgtcaaatggacTgcaaaacaacaggtccccag	8	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:24848384T>C	uc003neo.1	-	12	1124	c.948_splice	c.e12-1	p.Y316_splice	FAM65B_uc011djs.1_Splice_Site_p.Y345_splice|FAM65B_uc011dju.1_Splice_Site_p.Y350_splice|FAM65B_uc003nep.2_Splice_Site_p.Y316_splice|FAM65B_uc011djt.1_Splice_Site_p.Y316_splice	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1						cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						TCAAATGGACTGCAAAACAAC	0.498													C	24848384	T	C	24848384	5	2	275	1	0	0	0	0	0	0	1	0	5600	1594	55	3	2318	3	FAM65B	6	24848384	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	6610737	24848384	146266683	435	141500											
HIST1H4F	8361	broad.mit.edu	37	chr6	26240759	26240759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcacgaagcccgccatcCgtcgcttggcccgacgcggc	12	18	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:26240759C>T	uc003nhe.1	+	1	106	c.106C>T	c.(106-108)CGT>TGT	p.R36C		NM_003540	NP_003531	P62805	H4_HUMAN	histone cluster 1, H4f	36					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCCCGCCATCCGTCGCTTGGC	0.572													T	26240759	C	T	26240759	3	4	275	1	0	0	0	0	1	0	0	0	7170	652	23	1	108	1	HIST1H4F	6	26240759	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1392375	26240759	144874308	436	141501											
HIST1H4I	8294	broad.mit.edu	37	chr6	27107164	27107164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggtgctgcgcgacaAcatccagggtatcaccaagc	11	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:27107164A>G	uc003niy.1	+	1	77	c.77A>G	c.(76-78)AAC>AGC	p.N26S	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	26					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CTGCGCGACAACATCCAGGGT	0.612			T	BCL6	NHL								G	27107164	A	G	27107164	3	3	275	1	0	0	0	0	1	0	0	0	7173	43	2	3	79	3	HIST1H4I	6	27107164	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	866405	27107164	144007903	437	141502											
PGBD1	84547	broad.mit.edu	37	chr6	28268660	28268660	+	Frame_Shift_Del	DEL	A	A	-													gacattacccgaaaagggagAaaaaaagacaaagctcgagt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:28268659_28268659GA>G	uc003nky.3	+	6	1448	c.1028_1028GA>G	c.(1027-1029)agafs	p.R343fs	PGBD1_uc003nkz.3_Frame_Shift_Del_p.R343fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	343					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						CGAAAAGGGAGAAAAAAAGAC	0.493													-	28268660	A	-	28268660	7	5	275	1	0	1	0	1	0	0	0	0	11780	243	9	0	1051	0	PGBD1	6	28268660	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	1161496	28268660	142846407	438	141503											
OR2J2	26707	broad.mit.edu	37	chr6	29141560	29141560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgttcatcatcatcctgTcatacgtggactcccatctc	5	15	5	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:29141560T>A	uc011dlm.1	+	1	250	c.148T>A	c.(148-150)TCA>ACA	p.S50T		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	50	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATCATCCTGTCATACGTGGA	0.448													A	29141560	T	A	29141560	3	1	275	1	0	0	0	0	1	0	0	0	11003	1667	58	5	150	5	OR2J2	6	29141560	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	872900	29141560	141973507	439	141504											
HLA-F	3134	broad.mit.edu	37	chr6	29692921	29692921	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgacctggcagcgggatGgggaggaacagacccaggac	17	11	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:29692921G>T	uc010jrl.2	+	4	848	c.724G>T	c.(724-726)GGG>TGG	p.G242W	HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.G242W|HLA-F_uc011dlx.1_Missense_Mutation_p.G242W|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	242	Alpha-3.|Extracellular (Potential).|Ig-like C1-type.				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				0						GCAGCGGGATGGGGAGGAACA	0.642													T	29692921	G	T	29692921	3	4	275	1	0	0	0	0	1	0	0	0	7211	1348	47	5	738	5	HLA-F	6	29692921	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	551361	29692921	141422146	440	141505											
BAT2	7916	broad.mit.edu	37	chr6	31594894	31594894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctccagagacagagccGggacctcctgccccaaagcc	11	18	0	2	rs141848058		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:31594894G>A	uc003nvb.3	+	11	1458	c.1209G>A	c.(1207-1209)CCG>CCA	p.P403P	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.P403P	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	403	4 X 57 AA type A repeats.|2 X type B repeats.|2-1.					cytoplasm|nucleus	protein binding				0						AGACAGAGCCGGGACCTCCTG	0.662													A	31594894	G	A	31594894	2	1	275	1	0	0	0	0	0	0	0	1	1319	1103	39	1		1	BAT2	6	31594894	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1901973	31594894	139520173	441	141506											
C6orf27	80737	broad.mit.edu	37	chr6	31740843	31740843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgatctcctcacccatGctgcccgtggtgtccaggac	11	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:31740843G>A	uc011dog.1	-	7	1213	c.975C>T	c.(973-975)AGC>AGT	p.S325S	C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	325						extracellular region				ovary(3)	3						CCTCACCCATGCTGCCCGTGG	0.617													A	31740843	G	A	31740843	2	1	275	1	0	0	0	0	0	0	0	1	2362	1310	46	2		2	C6orf27	6	31740843	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	145949	31740843	139374224	442	141507											
CYP21A2	1589	broad.mit.edu	37	chr6	32008306	32008306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatcgccgaggtgctgCgcctgcggcccgttgtgccc	13	18	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32008306C>T	uc003nze.1	+	8	1181	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	CYP21A2_uc003nzf.1_Missense_Mutation_p.R325C	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	354	Steroid-binding (By similarity).		R -> H (in AH3; salt wasting form).|R -> C (in AH3; salt wasting form).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CGAGGTGCTGCGCCTGCGGCC	0.682													T	32008306	C	T	32008306	3	4	275	1	0	0	0	0	1	0	0	0	4153	768	27	1	2614	1	CYP21A2	6	32008306	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	267463	32008306	139106761	443	141508											
TNXB	7148	broad.mit.edu	37	chr6	32011636	32011636	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggagtttctgggtccggGcctggccatccacctgcaca	12	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32011636G>C	uc003nzl.2	-	35	11616	c.11414C>G	c.(11413-11415)GCC>GGC	p.A3805G	TNXB_uc003nzg.1_Missense_Mutation_p.A236G|TNXB_uc003nzh.1_Missense_Mutation_p.A274G	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3852	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTGGGTCCGGGCCTGGCCATC	0.632													C	32011636	G	C	32011636	3	2	275	1	0	0	0	0	1	0	0	0	16343	1203	42	5	3339	5	TNXB	6	32011636	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3330	32011636	139103431	444	141509											
TNXB	7148	broad.mit.edu	37	chr6	32052427	32052427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaggtcctgtctgtcaCcgtcagctcacccaggcgtg	13	14	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32052427C>T	uc003nzl.2	-	8	3410	c.3208G>A	c.(3208-3210)GTG>ATG	p.V1070M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1157	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				0						CTGTCTGTCACCGTCAGCTCA	0.592													T	32052427	C	T	32052427	3	4	275	1	0	0	0	0	1	0	0	0	16343	507	18	4	11653	4	TNXB	6	32052427	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	40791	32052427	139062640	445	141510											
PPT2	9374	broad.mit.edu	37	chr6	32123549	32123549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctcctctccacagatggGacagtatggaggtgagtggg	14	10	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32123549G>A	uc003nzx.2	+	4	990	c.422G>A	c.(421-423)GGA>GAA	p.G141E	PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.G147E|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.G141E|PPT2_uc003oaa.2_Missense_Mutation_p.G141E|PPT2_uc010jtu.1_Missense_Mutation_p.G141E	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform a	141					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0						CCACAGATGGGACAGTATGGA	0.522													A	32123549	G	A	32123549	3	1	275	1	0	0	0	0	1	0	0	0	12412	1174	41	4	454	4	PPT2	6	32123549	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	71122	32123549	138991518	446	141511											
TAP2	6891	broad.mit.edu	37	chr6	32782191	32782191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttctagcatcaccacAgtctgaaaggtccagtctcc	7	13	5	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32782191A>G	uc011dqf.1	-	14	2492	c.2370T>C	c.(2368-2370)ACT>ACC	p.T790T	HLA-DOB_uc003oca.2_Silent_p.T183T|HLA-DOB_uc011dqg.1_Silent_p.T183T	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					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				0						GCATCACCACAGTCTGAAAGG	0.527													G	32782191	A	G	32782191	2	3	275	1	0	0	0	0	0	0	0	1	15548	175	7	3		3	TAP2	6	32782191	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	658642	32782191	138332876	447	141512											
BRD2	6046	broad.mit.edu	37	chr6	32945631	32945631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccctggcttggccaaatCgtcttcagagtcctccagtg	10	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:32945631C>T	uc003ocn.3	+	9	3128	c.1427C>T	c.(1426-1428)TCG>TTG	p.S476L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.S476L|BRD2_uc003ocp.3_Missense_Mutation_p.S356L|BRD2_uc010juh.2_Missense_Mutation_p.S476L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	476	Glu/Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTGGCCAAATCGTCTTCAGAG	0.393													T	32945631	C	T	32945631	3	4	275	1	0	0	0	0	1	0	0	0	1502	893	31	1	1457	1	BRD2	6	32945631	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	163440	32945631	138169436	448	141513											
COL11A2	1302	broad.mit.edu	37	chr6	33135270	33135270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctgcaggacccaccGggcctgtcttccccggggca	14	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:33135270G>A	uc003ocx.1	-	56	4283	c.4055C>T	c.(4054-4056)CCG>CTG	p.P1352L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1266L|COL11A2_uc003ocz.1_Missense_Mutation_p.P1245L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1352	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			ovary(3)|skin(2)	5						AGGACCCACCGGGCCTGTCTT	0.652													A	33135270	G	A	33135270	3	1	275	1	0	0	0	0	1	0	0	0	3668	1116	39	1	1199	1	COL11A2	6	33135270	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	189639	33135270	137979797	449	141514											
RING1	6015	broad.mit.edu	37	chr6	33179100	33179100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgaccccgtggagggggCgcaggggggagcagtgtagg	22	8	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:33179100C>T	uc003odk.2	+	5	815	c.621C>T	c.(619-621)GGC>GGT	p.G207G	RING1_uc011dqx.1_Silent_p.G207G|RING1_uc003odl.2_Silent_p.G178G	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	207	Necessary for transcriptional repression (By similarity).|Gly-rich.				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTGGAGGGGGCGCAGGGGGGA	0.701													T	33179100	C	T	33179100	2	4	275	1	0	0	0	0	0	0	0	1	13374	755	27	1		1	RING1	6	33179100	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	43830	33179100	137935967	450	141515											
DAXX	1616	broad.mit.edu	37	chr6	33288840	33288840	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcagctcacatagtcGcccaaagaggcggatcagct	10	12	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:33288840G>A	uc003oec.2	-	3	916	c.712C>T	c.(712-714)CGA>TGA	p.R238*	DAXX_uc011drd.1_Nonsense_Mutation_p.R163*|DAXX_uc011dre.1_Nonsense_Mutation_p.R250*|DAXX_uc003oed.2_Nonsense_Mutation_p.R238*|DAXX_uc010juw.2_Nonsense_Mutation_p.R163*	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	238					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			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TCACATAGTCGCCCAAAGAGG	0.567			Mis|F|N		Pancreatic neuroendocrine tumors								A	33288840	G	A	33288840	4	1	275	1	0	0	0	0	0	1	0	0	4243	1095	38	1	1534	1	DAXX	6	33288840	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	109740	33288840	137826227	451	141516											
SCUBE3	222663	broad.mit.edu	37	chr6	35205699	35205699	+	Frame_Shift_Del	DEL	G	G	-													agacctgtgctgtcaacaacGggggctgtgacagtaagtgc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:35205698_35205698CG>C	uc003okf.1	+	6	738	c.732_732CG>C	c.(730-732)aacfs	p.N244fs	SCUBE3_uc003okg.1_Frame_Shift_Del_p.N243fs|SCUBE3_uc003okh.1_Frame_Shift_Del_p.N131fs	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	244	EGF-like 6.				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						CTGTCAACAACGGGGGCTGTG	0.557													-	35205699	G	-	35205699	7	5	275	1	0	1	0	1	0	0	0	0	13946	1116	39	0	759	0	SCUBE3	6	35205699	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1916859	35205699	135909368	452	141517											
KCTD20	222658	broad.mit.edu	37	chr6	36454701	36454701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattaagagaaggcctggcGgccggtctgaagtcatctat	12	8	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:36454701G>T	uc003ome.2	+	8	1400	c.1009G>T	c.(1009-1011)GGC>TGC	p.G337C	KCTD20_uc011dtm.1_Missense_Mutation_p.G192C|KCTD20_uc011dtn.1_Missense_Mutation_p.G91C|KCTD20_uc010jwk.2_Missense_Mutation_p.G171C|KCTD20_uc011dto.1_Missense_Mutation_p.G91C	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	337						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2						AAGGCCTGGCGGCCGGTCTGA	0.448													T	36454701	G	T	36454701	3	4	275	1	0	0	0	0	1	0	0	0	8108	1116	39	5	1035	5	KCTD20	6	36454701	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1249002	36454701	134660366	453	141518											
MDGA1	266727	broad.mit.edu	37	chr6	37615063	37615063	+	Frame_Shift_Del	DEL	G	G	-													ttgtggctgcgggtggggttGggggtgtcgaagtaaaactc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:37615063delG	uc003onu.1	-	10	3111	c.1932delC	c.(1930-1932)CCCfs	p.P644fs	MDGA1_uc003onv.1_5'UTR	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	644	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						GGGTGGGGTTGGGGGTGTCGA	0.562													-	37615063	G	-	37615063	7	5	275	1	0	1	0	1	0	0	0	0	9406	1335	47	0	967	0	MDGA1	6	37615063	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1160362	37615063	133500004	454	141519											
C6orf130	221443	broad.mit.edu	37	chr6	41037821	41037822	+	Frame_Shift_Ins	INS	-	-	AT													ggccccatcttaccaagtaaINStatatatatcgcccatctct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:41037820_41037821A>AAT	uc003opm.3	-	3	409_410	c.237_238T>ATT	c.(235-240)tattacfs	p.Y79fs	UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.3_Frame_Shift_Ins_p.Y79fs|C6orf130_uc003opn.3_Frame_Shift_Ins_p.Y79fs|C6orf130_uc010jxh.1_Frame_Shift_Ins_p.Y79fs|NFYA_uc003opo.3_5'Flank|NFYA_uc003opp.3_5'Flank	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	Homo sapiens chromosome 6 open reading frame 130 (C6orf130), mRNA.	79	Macro.									endometrium(1)|lung(5)	6	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTACCAAGTAATATATATATC	0.351													AT	41037822	-	AT	41037821	7	5	275	1	0	1	1	0	0	0	0	0	2329	108	4	0	233	0	C6orf130	6	41037821	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	3422758	41037821	130077246	455	141520											
PRICKLE4	29964	broad.mit.edu	37	chr6	41754676	41754676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaagcggaggcacccaaaGggcaggagcaatgccgcctg	14	12	0	0	rs79644072	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:41754676G>T	uc011duf.1	+	8	1212	c.964G>T	c.(964-966)GGG>TGG	p.G322W	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_RNA|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	282						nucleus	zinc ion binding				0	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)			GGCACCCAAAGGGCAGGAGCA	0.607											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	41754676	G	T	41754676	3	4	275	1	0	0	0	0	1	0	0	0	12489	1000	35	5	986	5	PRICKLE4	6	41754676	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	716855	41754676	129360391	456	141521											
CUL7	9820	broad.mit.edu	37	chr6	43008318	43008318	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagttcctgatccagctGctggagctggtagacgtgga	15	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:43008318G>A	uc003otq.2	-	21	4276	c.3973C>T	c.(3973-3975)CAG>TAG	p.Q1325*	CUL7_uc010jyg.2_Nonsense_Mutation_p.Q604*|CUL7_uc011dvb.1_Nonsense_Mutation_p.Q1409*|CUL7_uc010jyh.2_Nonsense_Mutation_p.Q318*|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1325					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			TGATCCAGCTGCTGGAGCTGG	0.567													A	43008318	G	A	43008318	4	1	275	1	0	0	0	0	0	1	0	0	4060	1328	46	2	1147	2	CUL7	6	43008318	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1253642	43008318	128106749	457	141522											
DLK2	65989	broad.mit.edu	37	chr6	43418437	43418437	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacaccccggcgccagGccctcagggtcagcaacaca	12	17	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:43418437G>T	uc003ova.2	-	6	1201	c.992C>A	c.(991-993)GCC>GAC	p.A331D	DLK2_uc003ovb.2_Missense_Mutation_p.A331D	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	331	Cytoplasmic (Potential).					integral to membrane	calcium ion binding				0	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)			CCGGCGCCAGGCCCTCAGGGT	0.647													T	43418437	G	T	43418437	3	4	275	1	0	0	0	0	1	0	0	0	4565	1203	42	5	163	5	DLK2	6	43418437	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	410119	43418437	127696630	458	141523											
PKHD1	5314	broad.mit.edu	37	chr6	51491808	51491808	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttaccttctcccaccacAgtgtcttcttttttgggccc	6	15	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:51491808A>G	uc003pah.1	-	66	12048	c.11772T>C	c.(11770-11772)ACT>ACC	p.T3924T		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3924	Cytoplasmic (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTCCCACCACAGTGTCTTCTT	0.483													G	51491808	A	G	51491808	2	3	275	1	0	0	0	0	0	0	0	1	11971	175	7	3		3	PKHD1	6	51491808	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	8073371	51491808	119623259	459	141524											
ICK	22858	broad.mit.edu	37	chr6	52871165	52871165	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctctgcatagcagaaccGatttcttttttcagaaagga	7	10	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:52871165G>A	uc003pbh.2	-	14	2182	c.1692C>T	c.(1690-1692)ATC>ATT	p.I564I	ICK_uc003pbi.2_Silent_p.I564I	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	564					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TAGCAGAACCGATTTCTTTTT	0.363													A	52871165	G	A	52871165	2	1	275	1	0	0	0	0	0	0	0	1	7484	1048	37	1		1	ICK	6	52871165	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1379357	52871165	118243902	460	141525											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-													cggcaccaaattggaggactCccccccttgtcgcaactggt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:55039410_55039410TC>T	uc003pcl.3	+	0	340	c.25_25TC>T	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					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)			ATTGGAGGACTCCCCCCCTTG	0.562													-	55039411	C	-	55039411	7	5	275	1	0	1	0	1	0	0	0	0	7002	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	2168246	55039411	116075656	461	141526											
OGFRL1	79627	broad.mit.edu	37	chr6	72003316	72003316	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccattcaagccagatggTgagtaacgtactacttgata	8	8	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:72003316T>C	uc003pfx.1	+	3	563	c.400_splice	c.e3+2	p.G134_splice		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1							membrane	receptor activity				0						AGCCAGATGGTGAGTAACGTA	0.289													C	72003316	T	C	72003316	5	2	275	1	0	0	0	0	0	0	1	0	10844	1710	59	3	412	3	OGFRL1	6	72003316	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	16963905	72003316	99111751	462	141527											
KHDC1	80759	broad.mit.edu	37	chr6	73951401	73951401	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacactaatggaggtgaccaGgtcatcgttggtcagaggct	13	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:73951401G>T	uc003pgo.2	-	5	1066	c.565C>A	c.(565-567)CTG>ATG	p.L189M	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.3_Missense_Mutation_p.L116M	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	189						integral to membrane	RNA binding			skin(1)	1						GAGGTGACCAGGTCATCGTTG	0.557													T	73951401	G	T	73951401	3	4	275	1	0	0	0	0	1	0	0	0	8144	991	35	5	152	5	KHDC1	6	73951401	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1948085	73951401	97163666	463	141528											
COL12A1	1303	broad.mit.edu	37	chr6	75866088	75866088	+	Frame_Shift_Del	DEL	G	G	-													aacactgtcgaagtgactgtGgggggcaccttagcaaccat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:75866087_75866087TG>T	uc021zbv.1	-	13	3171	c.3136_3136CA>A	c.(3136-3138)acafs	p.T1046fs	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.T1046fs|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1046	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.T1046fs*7(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						GAAGTGACTGTGGGGGGCACC	0.493													-	75866088	G	-	75866088	7	5	275	1	0	1	0	1	0	0	0	0	3669	1335	47	0	6264	0	COL12A1	6	75866088	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1914687	75866088	95248979	464	141529											
PRSS35	167681	broad.mit.edu	37	chr6	84233911	84233911	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagggaggccttcctttcagTggacccgggtcaagaatacc	12	11	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:84233911T>C	uc003pjz.2	+	2	914	c.751T>C	c.(751-753)TGG>CGG	p.W251R	PRSS35_uc010kbm.2_Missense_Mutation_p.W251R	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	251	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		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)		TTCCTTTCAGTGGACCCGGGT	0.577													C	84233911	T	C	84233911	3	2	275	1	0	0	0	0	1	0	0	0	12624	1696	59	3	753	3	PRSS35	6	84233911	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	8367823	84233911	86881156	465	141530											
CYB5R4	51167	broad.mit.edu	37	chr6	84573933	84573933	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagccttatggattggattCgactgaccaaaagtggaaag	12	6	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:84573933C>T	uc003pkf.2	+	2	247	c.115C>T	c.(115-117)CGA>TGA	p.R39*		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	39					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(2)	2		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)		GGATTGGATTCGACTGACCAA	0.328													T	84573933	C	T	84573933	4	4	275	1	0	0	0	0	0	1	0	0	4129	876	31	1	121	1	CYB5R4	6	84573933	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	340022	84573933	86541134	466	141531											
KIAA1009	22832	broad.mit.edu	37	chr6	84862351	84862351	+	Frame_Shift_Del	DEL	T	T	-													aaattaatccttctagctcaTtttttaatctgtagttttct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:84862351delT	uc010kbp.2	-	23	3639	c.3542delA	c.(3541-3543)AATfs	p.N1181fs	KIAA1009_uc003pkj.3_Frame_Shift_Del_p.N1105fs|KIAA1009_uc003pki.3_Frame_Shift_Del_p.N567fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1181	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		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)		TTCTAGCTCATTTTTTAATCT	0.358													-	84862351	T	-	84862351	7	5	275	1	0	1	0	1	0	0	0	0	8203	1493	52	0	689	0	KIAA1009	6	84862351	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	288418	84862351	86252716	467	141532											
HTR1E	3354	broad.mit.edu	37	chr6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-													ttccatgcctccatcaggatCccccccttcgacaatgatct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:87725846_87725846TC>T	uc003pli.3	+	1	1497	c.794_794TC>T	c.(793-795)atcfs	p.I265fs	HTR1E_uc021zcg.1_Frame_Shift_Del_p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		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)	TCCATCAGGATCCCCCCCTTC	0.507													-	87725847	C	-	87725847	7	5	275	1	0	1	0	1	0	0	0	0	7439	845	30	0	797	0	HTR1E	6	87725847	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	2863496	87725847	83389220	468	141533											
ZNF292	23036	broad.mit.edu	37	chr6	87966812	87966812	+	Frame_Shift_Del	DEL	T	T	-													aataatggaaagtttgtttaTtttttgccatcaccggtgaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:87966811_87966811AT>A	uc003plm.4	+	7	3505	c.3464_3464AT>A	c.(3463-3465)tatfs	p.Y1155fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1154S(1)		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)		AAGTTTGTTTATTTTTTGCCA	0.408													-	87966812	T	-	87966812	7	5	275	1	0	1	0	1	0	0	0	0	17823	1500	52	0	3495	0	ZNF292	6	87966812	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	240965	87966812	83148255	469	141534											
ZNF292	23036	broad.mit.edu	37	chr6	87967491	87967491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgtagcaggtgttacAgggcttttactaatcccaga	9	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:87967491A>G	uc003plm.3	+	8	4185	c.4144A>G	c.(4144-4146)AGG>GGG	p.R1382G		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1382	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		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)		CAGGTGTTACAGGGCTTTTAC	0.458													G	87967491	A	G	87967491	3	3	275	1	0	0	0	0	1	0	0	0	17823	179	7	3	4174	3	ZNF292	6	87967491	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	679	87967491	83147576	470	141535											
C6orf165	154313	broad.mit.edu	37	chr6	88144752	88144752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcatcaacagtttgaaaCatttattccatattctcagg	4	9	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:88144752C>T	uc003plv.2	+	11	1567	c.1475C>T	c.(1474-1476)ACA>ATA	p.T492I	SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.T304I|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.T492I	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	492										central_nervous_system(1)	1		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)		CAGTTTGAAACATTTATTCCA	0.264													T	88144752	C	T	88144752	3	4	275	1	0	0	0	0	1	0	0	0	2341	478	17	4	1513	4	C6orf165	6	88144752	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	177261	88144752	82970315	471	141536											
MDN1	23195	broad.mit.edu	37	chr6	90364002	90364002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctatctcctcctcttccTgatctttgccagagtctttt	4	15	5	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:90364002T>C	uc003pnn.1	-	93	15658	c.15542A>G	c.(15541-15543)CAG>CGG	p.Q5181R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5181					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		CTCCTCTTCCTGATCTTTGCC	0.498													C	90364002	T	C	90364002	3	2	275	1	0	0	0	0	1	0	0	0	9415	1580	55	3	1288	3	MDN1	6	90364002	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2219250	90364002	80751065	472	141537											
BACH2	60468	broad.mit.edu	37	chr6	90660903	90660903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgtttccggtccatctCgacatcccccgctctgtcct	9	17	2	0	rs61740507		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:90660903C>T	uc011eab.1	-	7	1731	c.922G>A	c.(922-924)GAG>AAG	p.E308K	BACH2_uc003pnw.2_Missense_Mutation_p.E308K|BACH2_uc010kch.2_Missense_Mutation_p.E308K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	308						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		CGGTCCATCTCGACATCCCCC	0.637													T	90660903	C	T	90660903	3	4	275	1	0	0	0	0	1	0	0	0	1284	893	31	1	1615	1	BACH2	6	90660903	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	296901	90660903	80454164	473	141538											
DDO	8528	broad.mit.edu	37	chr6	110714129	110714129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctctgtccatctcgcGcaaggagctctgtctgcagt	11	14	4	0	rs140929618		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:110714129G>A	uc003puc.2	-	5	963	c.959C>T	c.(958-960)GCG>GTG	p.A320V	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Missense_Mutation_p.A261V	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	292					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		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)		TCCATCTCGCGCAAGGAGCTC	0.647													A	110714129	G	A	110714129	3	1	275	1	0	0	0	0	1	0	0	0	4334	1087	38	1	154	1	DDO	6	110714129	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	20053226	110714129	60400938	474	141539											
LAMA4	3910	broad.mit.edu	37	chr6	112441524	112441524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtatttctcctggcttcTaatcttcagttttttgtgac	6	8	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:112441524T>C	uc003pvu.2	-	33	4936	c.4627A>G	c.(4627-4629)AGA>GGA	p.R1543G	LAMA4_uc003pvv.2_Missense_Mutation_p.R1536G|LAMA4_uc003pvt.2_Missense_Mutation_p.R1536G	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1543	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		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)		TCCTGGCTTCTAATCTTCAGT	0.403													C	112441524	T	C	112441524	3	2	275	1	0	0	0	0	1	0	0	0	8608	1530	53	3	872	3	LAMA4	6	112441524	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1727395	112441524	58673543	475	141540											
GJA1	2697	broad.mit.edu	37	chr6	121768438	121768438	+	Frame_Shift_Del	DEL	G	G	-													atggtaaggtgaaaatgcgaGgggggttgctgcgaacctac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:121768437_121768437AG>A	uc003pyr.3	+	1	694	c.444_444AG>A	c.(442-444)cgafs	p.R148fs	GJA1_uc011ebo.1_Frame_Shift_Del_p.R49fs|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Frame_Shift_Del_p.R148fs	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	148			R -> Q (in dbSNP:rs2228960).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.R148Q(1)|p.R148*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGAAAATGCGAGGGGGGTTGC	0.448													-	121768438	G	-	121768438	7	5	275	1	0	1	0	1	0	0	0	0	6400	1000	35	0	447	0	GJA1	6	121768438	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	9326914	121768438	49346629	476	141541											
RNF217	154214	broad.mit.edu	37	chr6	125397902	125397902	+	Frame_Shift_Del	DEL	T	T	-													agagataccgccagctccgaTtttttggagaccacacatca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:125397901_125397901AT>A	uc003pzr.3	+	3	1209	c.675_675AT>A	c.(673-675)cgafs	p.R225fs	RNF217_uc003pzs.3_Frame_Shift_Del_p.R168fs|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		GCCAGCTCCGATTTTTTGGAG	0.448													-	125397902	T	-	125397902	7	5	275	1	0	1	0	1	0	0	0	0	13481	1493	52	0	519	0	RNF217	6	125397902	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	3629464	125397902	45717165	477	141542											
TPD52L1	7164	broad.mit.edu	37	chr6	125541259	125541259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgttgcaaggaacagacGaagatgcagtagccagtgct	12	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:125541259G>A	uc003pzu.1	+	2	274	c.55G>A	c.(55-57)GAA>AAA	p.E19K	TPD52L1_uc003pzv.1_Missense_Mutation_p.E19K|TPD52L1_uc003pzw.1_Missense_Mutation_p.E19K|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	19					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGGAACAGACGAAGATGCAGT	0.363													A	125541259	G	A	125541259	3	1	275	1	0	0	0	0	1	0	0	0	16395	1059	37	1	61	1	TPD52L1	6	125541259	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	143357	125541259	45573808	478	141543											
C6orf174	387104	broad.mit.edu	37	chr6	127796643	127796643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggccacgtagatgcgcGcctcggtgatgatggtgctc	15	11	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:127796643G>A	uc003qbd.2	-	6	3393	c.2528C>T	c.(2527-2529)GCG>GTG	p.A843V	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GTAGATGCGCGCCTCGGTGAT	0.652													A	127796643	G	A	127796643	3	1	275	1	0	0	0	0	1	0	0	0	2345	1087	38	1	323	1	C6orf174	6	127796643	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2255384	127796643	43318424	479	141544											
MOXD1	26002	broad.mit.edu	37	chr6	132619024	132619024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttttagtccatttaaActtattcatagcatccatga	3	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:132619024A>G	uc003qdf.2	-	11	1678	c.1579T>C	c.(1579-1581)TTT>CTT	p.F527L	MOXD1_uc003qde.2_Missense_Mutation_p.F459L	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	527	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTCCATTTAAACTTATTCATA	0.398													G	132619024	A	G	132619024	3	3	275	1	0	0	0	0	1	0	0	0	9720	43	2	3	270	3	MOXD1	6	132619024	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	4822381	132619024	38496043	480	141545											
SGK1	6446	broad.mit.edu	37	chr6	134491976	134491976	+	Frame_Shift_Del	DEL	A	A	-													atactcaccacatttgggttAaaagggggagtaatcttctt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:134491975_134491975TA>T	uc003qen.4	-	10	1206	c.1117_1117TA>A	c.(1117-1119)aacfs	p.N373fs	SGK1_uc003qeo.4_Frame_Shift_Del_p.N468fs|SGK1_uc011ect.2_Frame_Shift_Del_p.N363fs|SGK1_uc011ecu.2_Frame_Shift_Del_p.N329fs|SGK1_uc011ecv.2_Frame_Shift_Del_p.N387fs|SGK1_uc011ecw.2_Frame_Shift_Del_p.N401fs	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	373	AGC-kinase C-terminal.				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)		ACATTTGGGTTAAAAGGGGGA	0.378													-	134491976	A	-	134491976	7	5	275	1	0	1	0	1	0	0	0	0	14207	359	13	0	187	0	SGK1	6	134491976	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	1872952	134491976	36623091	481	141546											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239813	135239813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctcttcactatcaaAggggacgacacacgtcactg	7	15	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:135239813A>G	uc003qew.2	-	7	1257	c.1204T>C	c.(1204-1206)TTT>CTT	p.F402L	ALDH8A1_uc003qex.2_Missense_Mutation_p.F348L|ALDH8A1_uc010kgh.2_Missense_Mutation_p.F180L|ALDH8A1_uc011ecx.1_Missense_Mutation_p.F352L	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	402					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TCACTATCAAAGGGGACGACA	0.532													G	135239813	A	G	135239813	3	3	275	1	0	0	0	0	1	0	0	0	505	72	3	3	263	3	ALDH8A1	6	135239813	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	747837	135239813	35875254	482	141547											
AHI1	54806	broad.mit.edu	37	chr6	135639703	135639703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttagttttttcctcagggCttaaaggaggggatcgctcc	11	8	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:135639703C>A	uc003qgi.2	-	26	3764	c.3380G>T	c.(3379-3381)AGC>ATC	p.S1127I	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.S577I|AHI1_uc003qgh.2_Missense_Mutation_p.S1127I|AHI1_uc003qgj.2_Missense_Mutation_p.S1127I|AHI1_uc003qgk.3_RNA	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	1127						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCCTCAGGGCTTAAAGGAGG	0.378													A	135639703	C	A	135639703	3	1	275	1	0	0	0	0	1	0	0	0	413	797	28	5	226	5	AHI1	6	135639703	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	399890	135639703	35475364	483	141548											
PDE7B	27115	broad.mit.edu	37	chr6	136502384	136502384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgccttgaagtgtgctgAcatttgcaatccttgtagaa	10	8	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:136502384A>G	uc003qgp.2	+	11	1271	c.968A>G	c.(967-969)GAC>GGC	p.D323G	uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.D375G	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	323	Catalytic (By similarity).	Divalent metal cation 1 (By similarity).			signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGTGTGCTGACATTTGCAAT	0.468													G	136502384	A	G	136502384	3	3	275	1	0	0	0	0	1	0	0	0	11652	275	10	3	1010	3	PDE7B	6	136502384	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	862681	136502384	34612683	484	141549											
PEX3	8504	broad.mit.edu	37	chr6	143806337	143806337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagataattccaatagtaaaCggacagatccattcagtttg	7	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:143806337C>T	uc003qjl.2	+	11	1252	c.990C>T	c.(988-990)AAC>AAT	p.N330N		NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	330	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAATAGTAAACGGACAGATCC	0.363													T	143806337	C	T	143806337	2	4	275	1	0	0	0	0	0	0	0	1	11747	535	19	1		1	PEX3	6	143806337	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	7303953	143806337	27308730	485	141550											
STX11	8676	broad.mit.edu	37	chr6	144508016	144508016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcagcagcatcaagcgCgacaccaactccatcgccaa	7	18	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:144508016C>T	uc003qks.3	+	2	444	c.252C>T	c.(250-252)CGC>CGT	p.R84R		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	84					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCATCAAGCGCGACACCAACT	0.647									Familial_Hemophagocytic_Lymphohistiocytosis				T	144508016	C	T	144508016	2	4	275	1	0	0	0	0	0	0	0	1	15336	755	27	1		1	STX11	6	144508016	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	701679	144508016	26607051	486	141551											
UTRN	7402	broad.mit.edu	37	chr6	144801014	144801014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacctgaagaaagacttgGcagagatgcaggaatggatg	14	6	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:144801014G>A	uc003qkt.2	+	25	3495	c.3403G>A	c.(3403-3405)GCA>ACA	p.A1135T	UTRN_uc010khq.1_Missense_Mutation_p.A1135T	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1135	Spectrin 8.				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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAGACTTGGCAGAGATGCA	0.443													A	144801014	G	A	144801014	3	1	275	1	0	0	0	0	1	0	0	0	17100	1203	42	2	3501	2	UTRN	6	144801014	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	292998	144801014	26314053	487	141552											
C6orf72	116254	broad.mit.edu	37	chr6	149901801	149901801	+	Frame_Shift_Del	DEL	T	T	-													aaccactgtagatgaagatgTtttacctggcaagttacctg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:149901800_149901800GT>G	uc003qmq.1	+	5	681	c.658_658GT>G	c.(658-660)gttfs	p.V220fs	C6orf72_uc010kie.1_Frame_Shift_Del_p.V100fs	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	Homo sapiens chromosome 6 open reading frame 72 (C6orf72), mRNA.	220						integral to membrane				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		AGATGAAGATGTTTTACCTGG	0.408													-	149901801	T	-	149901801	7	5	275	1	0	1	0	1	0	0	0	0	2371	1725	60	0	681	0	C6orf72	6	149901801	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	5100787	149901801	21213266	488	141553											
AKAP12	9590	broad.mit.edu	37	chr6	151671353	151671353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagagaaggtgtcactccCtgggcatcattcaaaaagat	9	8	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:151671353C>A	uc011eep.1	+	4	2067	c.1827C>A	c.(1825-1827)CCC>CCA	p.P609P	AKAP12_uc003qoe.2_Silent_p.P609P|AKAP12_uc003qof.2_Silent_p.P511P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.P504P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	609	AKAP 1.				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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTGTCACTCCCTGGGCATCAT	0.507													A	151671353	C	A	151671353	2	1	275	1	0	0	0	0	0	0	0	1	448	668	24	5		5	AKAP12	6	151671353	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1769552	151671353	19443714	489	141554											
AKAP12	9590	broad.mit.edu	37	chr6	151674283	151674283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcacgtgataaaagctgAcagccaggacgctggacagg	13	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:151674283A>G	uc011eep.1	+	4	4997	c.4757A>G	c.(4756-4758)GAC>GGC	p.D1586G	AKAP12_uc003qoe.2_Missense_Mutation_p.D1586G|AKAP12_uc003qof.2_Missense_Mutation_p.D1488G|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.D1481G	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1586					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATAAAAGCTGACAGCCAGGAC	0.493													G	151674283	A	G	151674283	3	3	275	1	0	0	0	0	1	0	0	0	448	275	10	3	4796	3	AKAP12	6	151674283	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2930	151674283	19440784	490	141555											
ZBTB2	57621	broad.mit.edu	37	chr6	151687735	151687735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggccgtggatctcgccCgagtttttcaggtgctgaag	14	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:151687735C>T	uc003qoh.2	-	3	601	c.466G>A	c.(466-468)GGG>AGG	p.G156R		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGATCTCGCCCGAGTTTTTCA	0.527													T	151687735	C	T	151687735	3	4	275	1	0	0	0	0	1	0	0	0	17525	652	23	1	1082	1	ZBTB2	6	151687735	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	13452	151687735	19427332	491	141556											
RBM16	22828	broad.mit.edu	37	chr6	155154243	155154243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaaatgaatggaaatcGtcttggacgagacagaattc	11	6	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:155154243G>A	uc003qqa.2	+	21	3762	c.3530G>A	c.(3529-3531)CGT>CAT	p.R1177H	TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Missense_Mutation_p.R1243H|RBM16_uc011efk.1_Missense_Mutation_p.R1222H|RBM16_uc003qpz.2_Missense_Mutation_p.R1177H|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	1177	Arg-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		AATGGAAATCGTCTTGGACGA	0.443													A	155154243	G	A	155154243	3	1	275	1	0	0	0	0	1	0	0	0	13118	1145	40	1	3608	1	RBM16	6	155154243	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3466508	155154243	15960824	492	141557											
NOX3	50508	broad.mit.edu	37	chr6	155718034	155718034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgatgaatacaagtggCacatcttttgaagtgtcctc	9	9	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:155718034C>T	uc003qqm.2	-	13	1746	c.1643G>A	c.(1642-1644)TGC>TAC	p.C548Y		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	548	Cytoplasmic (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ATACAAGTGGCACATCTTTTG	0.453													T	155718034	C	T	155718034	3	4	275	1	0	0	0	0	1	0	0	0	10557	710	25	2	67	2	NOX3	6	155718034	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	563791	155718034	15397033	493	141558											
ARID1B	57492	broad.mit.edu	37	chr6	157522085	157522085	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgatgggcggcccgctgCagtcgtcctccagtgagggg	17	11	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:157522085C>T	uc003qqn.2	+	18	4455	c.4303C>T	c.(4303-4305)CAG>TAG	p.Q1435*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1395*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1382*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1440					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGGCCCGCTGCAGTCGTCCTC	0.632													T	157522085	C	T	157522085	4	4	275	1	0	0	0	0	0	1	0	0	914	711	25	2	4427	2	ARID1B	6	157522085	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1804051	157522085	13592982	494	141559											
SYNJ2	8871	broad.mit.edu	37	chr6	158454638	158454638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcgcgttagctgtgagCgcacaggcactcgcttccac	10	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:158454638C>T	uc003qqx.1	+	4	712	c.637C>T	c.(637-639)CGC>TGC	p.R213C	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R213C|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.R162C|SYNJ2_uc010kjo.1_Missense_Mutation_p.R162C	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	213	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TAGCTGTGAGCGCACAGGCAC	0.627													T	158454638	C	T	158454638	3	4	275	1	0	0	0	0	1	0	0	0	15450	768	27	1	651	1	SYNJ2	6	158454638	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	932553	158454638	12660429	495	141560											
TULP4	56995	broad.mit.edu	37	chr6	158735164	158735164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctgtgtgcaggagacGctactatgaggaaggctggc	16	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:158735164G>A	uc003qrf.2	+	1	1473	c.116G>A	c.(115-117)CGC>CAC	p.R39H	TULP4_uc011efo.1_Missense_Mutation_p.R39H|TULP4_uc003qrg.2_Missense_Mutation_p.R39H	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	39					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		TGCAGGAGACGCTACTATGAG	0.592													A	158735164	G	A	158735164	3	1	275	1	0	0	0	0	1	0	0	0	16773	1087	38	1	118	1	TULP4	6	158735164	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	280526	158735164	12379903	496	141561											
EZR	7430	broad.mit.edu	37	chr6	159206452	159206452	+	Frame_Shift_Del	DEL	G	G	-													ccaagagcacggcagtctcaGgggggcagtagatctcatcg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:159206451_159206451AG>A	uc003qrt.4	-	3	572	c.357_357CT>T	c.(355-357)cctfs	p.P119fs	EZR_uc011efs.2_Frame_Shift_Del_p.P87fs|EZR_uc003qru.4_Frame_Shift_Del_p.P119fs	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	119	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CGGCAGTCTCAGGGGGGCAGT	0.537			T	ROS1	NSCLC								-	159206452	G	-	159206452	7	5	275	1	0	1	0	1	0	0	0	0	5335	1000	35	0	1444	0	EZR	6	159206452	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	471288	159206452	11908615	497	141562											
PNLDC1	154197	broad.mit.edu	37	chr6	160227061	160227061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgattgacgaagtgacgCggtggctggagctggccaag	18	7	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:160227061C>T	uc003qsx.1	+	7	646	c.475C>T	c.(475-477)CGG>TGG	p.R159W	PNLDC1_uc003qsy.1_Missense_Mutation_p.R170W	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	159	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGAAGTGACGCGGTGGCTGGA	0.542													T	160227061	C	T	160227061	3	4	275	1	0	0	0	0	1	0	0	0	12148	759	27	1	497	1	PNLDC1	6	160227061	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1020609	160227061	10888006	498	141563											
C6orf118	168090	broad.mit.edu	37	chr6	165713956	165713956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactgctgggggctgcacGtgcaaattttctggagctcc	13	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:165713956G>A	uc003qum.3	-	3	809	c.773C>T	c.(772-774)ACG>ATG	p.T258M	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	258											0		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)		GGGGCTGCACGTGCAAATTTT	0.433													A	165713956	G	A	165713956	3	1	275	1	0	0	0	0	1	0	0	0	2323	1145	40	1	664	1	C6orf118	6	165713956	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5486895	165713956	5401111	499	141564											
PDE10A	10846	broad.mit.edu	37	chr6	165895803	165895803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatattcacatcacttacCctgctgacttccttaggagc	5	12	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:165895803C>T	uc003qun.2	-	4	436	c.195G>A	c.(193-195)AGG>AGA	p.R65R	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_5'UTR|PDE10A_uc003quo.2_Silent_p.R75R	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	65					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		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)	CATCACTTACCCTGCTGACTT	0.348													T	165895803	C	T	165895803	2	4	275	1	0	0	0	0	0	0	0	1	11630	637	22	4		4	PDE10A	6	165895803	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	181847	165895803	5219264	500	141565											
THBS2	7058	broad.mit.edu	37	chr6	169637303	169637303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggctttggtctcccggCcactccctttgcaattcttg	10	14	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:169637303C>T	uc003qwt.2	-	10	1687	c.1439G>A	c.(1438-1440)GGC>GAC	p.G480D		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	480	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		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)		GGTCTCCCGGCCACTCCCTTT	0.622													T	169637303	C	T	169637303	3	4	275	1	0	0	0	0	1	0	0	0	15851	739	26	2	2135	2	THBS2	6	169637303	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3741500	169637303	1477764	501	141566											
DLL1	28514	broad.mit.edu	37	chr6	170594674	170594675	+	Frame_Shift_Ins	INS	-	-	C													accctggttgcagaaaaggcINSccccccagccttcctggcag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr6:170594673_170594674G>GC	uc003qxm.3	-	5	1315_1316	c.845_846C>GC	c.(844-846)ggcfs	p.G282fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	282	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion 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)		TGCAGAAAAGGCCCCCCCAGCC	0.599													C	170594675	-	C	170594674	7	5	275	1	0	1	1	0	0	0	0	0	4566	739	26	0	1350	0	DLL1	6	170594674	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	957371	170594674	520393	502	141567											
INTS1	26173	broad.mit.edu	37	chr7	1525028	1525028	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcacatctgtgtcCcccacatcctcctccatggg	7	19	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:1525028C>A	uc003skn.2	-	23	3155	c.3054G>T	c.(3052-3054)GGG>GGT	p.G1018G	INTS1_uc003skp.1_Silent_p.G365G	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1018					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CATCTGTGTCCCCCACATCCT	0.657													A	1525028	C	A	1525028	2	1	275	1	0	0	0	0	0	0	0	1	7775	610	22	5		5	INTS1	7	1525028	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08		1525028	157613635	503	141568											
SNX8	29886	broad.mit.edu	37	chr7	2296552	2296552	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttgacgaaggcgcggaggAtgtgggaggtgaggggcagg	23	4	0	2	rs144787122	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:2296552A>T	uc003slw.2	-	10	1284	c.1241T>A	c.(1240-1242)ATC>AAC	p.I414N		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	414					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGCGCGGAGGATGTGGGAGGT	0.627													T	2296552	A	T	2296552	3	4	275	1	0	0	0	0	1	0	0	0	14908	333	12	5	164	5	SNX8	7	2296552	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	771524	2296552	156842111	504	141569											
IQCE	23288	broad.mit.edu	37	chr7	2622222	2622222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccgggcaggtcattaaCgggctgaagcagaggatcct	13	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:2622222C>T	uc003smo.3	+	9	823	c.639C>T	c.(637-639)AAC>AAT	p.N213N	IQCE_uc010ksm.1_Silent_p.N213N|IQCE_uc003sml.1_Silent_p.N213N|IQCE_uc011jvy.1_Silent_p.N197N|IQCE_uc011jvz.1_Silent_p.N148N|IQCE_uc003smk.3_Silent_p.N197N|IQCE_uc003smn.3_Silent_p.N148N	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	213	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGGTCATTAACGGGCTGAAGC	0.652													T	2622222	C	T	2622222	2	4	275	1	0	0	0	0	0	0	0	1	7806	535	19	1		1	IQCE	7	2622222	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	325670	2622222	156516441	505	141570											
TTYH3	80727	broad.mit.edu	37	chr7	2689576	2689576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttctgtgtggaccctgaCgcctacgtgaccaaaatggt	11	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:2689576C>T	uc003smp.2	+	7	1012	c.825C>T	c.(823-825)GAC>GAT	p.D275D	TTYH3_uc010ksn.2_Translation_Start_Site|TTYH3_uc003smq.2_Silent_p.D104D	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	275	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TGGACCCTGACGCCTACGTGA	0.632													T	2689576	C	T	2689576	2	4	275	1	0	0	0	0	0	0	0	1	16738	535	19	1		1	TTYH3	7	2689576	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	67354	2689576	156449087	506	141571											
SDK1	221935	broad.mit.edu	37	chr7	4152977	4152977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccctacagtccgtcttcccGggtcatccagaccctgcagg	9	18	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:4152977G>T	uc003smx.2	+	24	3630	c.3491G>T	c.(3490-3492)CGG>CTG	p.R1164L	SDK1_uc010kso.2_Missense_Mutation_p.R440L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1164	Fibronectin type-III 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CCGTCTTCCCGGGTCATCCAG	0.577													T	4152977	G	T	4152977	3	4	275	1	0	0	0	0	1	0	0	0	13968	1116	39	5	3585	5	SDK1	7	4152977	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1463401	4152977	154985686	507	141572											
SDK1	221935	broad.mit.edu	37	chr7	4304977	4304977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacccccgctggccccggCgcgcgaactccgctcaccgg	11	21	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:4304977C>T	uc003smx.2	+	45	6742	c.6603C>T	c.(6601-6603)GGC>GGT	p.G2201G	SDK1_uc010kso.2_Silent_p.G1457G|SDK1_uc003smy.2_Intron|SDK1_uc003smz.2_Silent_p.G261G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2201	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CTGGCCCCGGCGCGCGAACTC	0.692													T	4304977	C	T	4304977	2	4	275	1	0	0	0	0	0	0	0	1	13968	755	27	1		1	SDK1	7	4304977	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	152000	4304977	154833686	508	141573											
SLC29A4	222962	broad.mit.edu	37	chr7	5340275	5340275	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggcaaagtgagccccAagcagcgggagctggcaggt	17	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:5340275A>G	uc003sod.2	+	10	1593	c.1432A>G	c.(1432-1434)AAG>GAG	p.K478E	SLC29A4_uc003soc.2_Missense_Mutation_p.K478E|SLC29A4_uc003soe.2_Missense_Mutation_p.K464E|SLC29A4_uc010ksw.2_Intron	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	478	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AGTGAGCCCCAAGCAGCGGGA	0.687													G	5340275	A	G	5340275	3	3	275	1	0	0	0	0	1	0	0	0	14537	131	5	3	1466	3	SLC29A4	7	5340275	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1035298	5340275	153798388	509	141574											
CYTH3	9265	broad.mit.edu	37	chr7	6210190	6210190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggagccagccctcgcGgtcggggttgaagaaggtgt	16	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:6210190G>A	uc003spt.2	-	9	903	c.799C>T	c.(799-801)CGC>TGC	p.R267C	CYTH3_uc011jws.1_Missense_Mutation_p.R182C	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	267	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				0						CAGCCCTCGCGGTCGGGGTTG	0.637													A	6210190	G	A	6210190	3	1	275	1	0	0	0	0	1	0	0	0	4205	1116	39	1	420	1	CYTH3	7	6210190	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	869915	6210190	152928473	510	141575											
ABCB5	340273	broad.mit.edu	37	chr7	20782576	20782576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagatgttttcatcctccGtggcttatccctcagtattg	7	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:20782576G>A	uc003suw.3	+	16	2312	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	ABCB5_uc010kuh.2_Missense_Mutation_p.R1034H	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	589	Cytoplasmic (Potential).|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			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TTCATCCTCCGTGGCTTATCC	0.458													A	20782576	G	A	20782576	3	1	275	1	0	0	0	0	1	0	0	0	44	1145	40	1	3236	1	ABCB5	7	20782576	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	14572386	20782576	138356087	511	141576											
DNAH11	8701	broad.mit.edu	37	chr7	21654837	21654837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaacaaatgaaacagtgtCgcaaagaaataaaattgctc	6	7	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:21654837C>T	uc003svc.2	+	21	3989	c.3958C>T	c.(3958-3960)CGC>TGC	p.R1320C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1320	Potential.|Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAAACAGTGTCGCAAAGAAAT	0.358									Kartagener_syndrome				T	21654837	C	T	21654837	3	4	275	1	0	0	0	0	1	0	0	0	4599	884	31	1	4040	1	DNAH11	7	21654837	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	872261	21654837	137483826	512	141577											
KLHL7	55975	broad.mit.edu	37	chr7	23191791	23191791	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatagccctatttggagGctctcaaccacagtcttgta	8	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:23191791G>C	uc003svs.3	+	7	1192	c.899G>C	c.(898-900)GGC>GCC	p.G300A	KLHL7_uc003svr.3_Missense_Mutation_p.G278A|KLHL7_uc011jys.1_Missense_Mutation_p.G224A|KLHL7_uc011jyt.1_Missense_Mutation_p.G75A|KLHL7_uc003svt.2_Missense_Mutation_p.G252A|KLHL7_uc011jyv.1_Missense_Mutation_p.G75A	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	300	Kelch 1.					Golgi apparatus|nucleolus|plasma membrane					0						CTATTTGGAGGCTCTCAACCA	0.393													C	23191791	G	C	23191791	3	2	275	1	0	0	0	0	1	0	0	0	8394	1203	42	5	988	5	KLHL7	7	23191791	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1536954	23191791	135946872	513	141578											
OSBPL3	26031	broad.mit.edu	37	chr7	24856292	24856292	+	Frame_Shift_Del	DEL	T	T	-													tggatttgccccagaatttgTttttccatctcacatctgaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:24856291_24856291GT>G	uc003sxf.3	-	17	2370	c.1965_1965AC>C	c.(1963-1965)aacfs	p.N655fs	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Frame_Shift_Del_p.N619fs|OSBPL3_uc003sxh.3_Frame_Shift_Del_p.N624fs|OSBPL3_uc003sxi.3_Frame_Shift_Del_p.N588fs	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	655					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						CCCAGAATTTGTTTTTCCATC	0.378													-	24856292	T	-	24856292	7	5	275	1	0	1	0	1	0	0	0	0	11279	1725	60	0	723	0	OSBPL3	7	24856292	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1664501	24856292	134282371	514	141579											
HOXA3	3200	broad.mit.edu	37	chr7	27147982	27147982	+	Frame_Shift_Del	DEL	G	G	-													gggggggcttggagaagggcGggggcgactggggctcatac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:27147981_27147981CG>C	uc011jzl.2	-	2	1085	c.885_885CG>G	c.(883-885)ccgfs	p.P295fs	HOXA3_uc003syk.3_Frame_Shift_Del_p.P295fs	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	295					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGAGAAGGGCGGGGGCGACT	0.697													-	27147982	G	-	27147982	7	5	275	1	0	1	0	1	0	0	0	0	7293	1116	39	0	451	0	HOXA3	7	27147982	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	2291690	27147982	131990681	515	141580											
CPVL	54504	broad.mit.edu	37	chr7	29135831	29135831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggggcatcttctggctgTatctagaggaaacagtaaaa	11	7	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:29135831T>C	uc003szv.2	-	4	410	c.291A>G	c.(289-291)ATA>ATG	p.I97M	CPVL_uc003szw.2_Missense_Mutation_p.I97M|CPVL_uc003szx.2_Missense_Mutation_p.I97M	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	97					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						CTTCTGGCTGTATCTAGAGGA	0.478													C	29135831	T	C	29135831	3	2	275	1	0	0	0	0	1	0	0	0	3835	1628	57	3	1179	3	CPVL	7	29135831	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1987849	29135831	130002832	516	141581											
PRR15	222171	broad.mit.edu	37	chr7	29606289	29606289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaggcgggcaggtcccCggaggaggcaggctttcctg	18	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:29606289C>T	uc003tac.1	+	2	1056	c.344C>T	c.(343-345)CCG>CTG	p.P115L		NM_175887	NP_787083	Q8IV56	PRR15_HUMAN	proline rich 15	115					multicellular organismal development						0						GGCAGGTCCCCGGAGGAGGCA	0.662													T	29606289	C	T	29606289	3	4	275	1	0	0	0	0	1	0	0	0	12587	652	23	1	346	1	PRR15	7	29606289	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	470458	29606289	129532374	517	141582											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31104454	31104454	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttctcctacaggcccctgCcatgcattctgactgcatct	7	15	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:31104454C>G	uc003tca.1	+	3	282	c.59C>G	c.(58-60)GCC>GGC	p.A20G	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.A20G|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.A20G|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.A20G|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.A20G	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	20					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						CAGGCCCCTGCCATGCATTCT	0.567													G	31104454	C	G	31104454	3	3	275	1	0	0	0	0	1	0	0	0	303	739	26	5	65	5	ADCYAP1R1	7	31104454	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1498165	31104454	128034209	518	141583											
ELMO1	9844	broad.mit.edu	37	chr7	37311468	37311468	+	Frame_Shift_Del	DEL	T	T	-													ttaatcgaaggatagtgccaTtttttatctcattgcggttc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:37311467_37311467AT>A	uc022abv.1	-	4	923	c.213_213AT>T	c.(211-213)aatfs	p.N71fs	ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Frame_Shift_Del_p.N71fs|ELMO1_uc010kxg.2_Frame_Shift_Del_p.N71fs	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	71					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|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						GGATAGTGCCATTTTTTATCT	0.368													-	37311468	T	-	37311468	7	5	275	1	0	1	0	1	0	0	0	0	5065	1493	52	0	2043	0	ELMO1	7	37311468	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	6207014	37311468	121827195	519	141584											
POU6F2	11281	broad.mit.edu	37	chr7	39247127	39247127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaggactggttctcaCactgccaacagcgaatctca	8	14	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:39247127C>T	uc003thb.1	+	4	461	c.419C>T	c.(418-420)ACA>ATA	p.T140I	POU6F2_uc010kxo.2_Missense_Mutation_p.T132I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	140					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			central_nervous_system(1)	1						CTGGTTCTCACACTGCCAACA	0.587													T	39247127	C	T	39247127	3	4	275	1	0	0	0	0	1	0	0	0	12285	478	17	4	433	4	POU6F2	7	39247127	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1935659	39247127	119891536	520	141585											
INHBA	3624	broad.mit.edu	37	chr7	41730049	41730049	+	Frame_Shift_Del	DEL	T	T	-													gtcctgttggccttggggacTtttaggaagagccagacttc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:41730048_41730048CT>C	uc003thq.3	-	1	716	c.481_481AG>G	c.(481-483)gtcfs	p.V161fs	INHBA_uc003thr.3_Frame_Shift_Del_p.V161fs	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	161					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|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	p.V161V(1)		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						GCCTTGGGGACTTTTAGGAAG	0.577										TSP Lung(11;0.080)			-	41730049	T	-	41730049	7	5	275	1	0	1	0	1	0	0	0	0	7741	1606	56	0	804	0	INHBA	7	41730049	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	2482922	41730049	117408614	521	141586											
GLI3	2737	broad.mit.edu	37	chr7	42005564	42005564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttctccgcggacgtgGccatcgccggggggttgcag	17	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:42005564G>A	uc011kbh.1	-	15	3198	c.3107C>T	c.(3106-3108)GCC>GTC	p.A1036V	GLI3_uc011kbg.1_Missense_Mutation_p.A977V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1036					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CGCGGACGTGGCCATCGCCGG	0.697									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				A	42005564	G	A	42005564	3	1	275	1	0	0	0	0	1	0	0	0	6439	1203	42	2	1639	2	GLI3	7	42005564	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	275515	42005564	117133099	522	141587											
HECW1	23072	broad.mit.edu	37	chr7	43591891	43591892	+	Frame_Shift_Ins	INS	-	-	A													gtgatagctggcaccgcggaINSaatcgacctaaatgactggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:43591890_43591891G>GA	uc003tid.1	+	27	5070_5071	c.4465_4466G>GA	c.(4465-4467)gaafs	p.E1489fs	HECW1_uc011kbi.1_Frame_Shift_Ins_p.E1455fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1489	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGCACCGCGGAAATCGACCTA	0.525													A	43591892	-	A	43591891	7	5	275	1	0	1	1	0	0	0	0	0	7042	246	9	0	4568	0	HECW1	7	43591891	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1586327	43591891	115546772	523	141588											
ZMIZ2	83637	broad.mit.edu	37	chr7	44806211	44806211	+	Frame_Shift_Del	DEL	G	G	-													agtcctgccacaggcgtgatGgggccccccagcatgtctgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:44806210_44806210TG>T	uc003tlr.3	+	17	2726	c.2603_2603TG>T	c.(2602-2604)atgfs	p.M868fs	ZMIZ2_uc003tlq.3_Frame_Shift_Del_p.M810fs|ZMIZ2_uc003tls.3_Frame_Shift_Del_p.M842fs|ZMIZ2_uc003tlt.3_Frame_Shift_Del_p.M491fs|ZMIZ2_uc010kyj.3_Frame_Shift_Del_p.M390fs|ZMIZ2_uc003tlu.3_Frame_Shift_Del_p.M149fs|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	868	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACAGGCGTGATGGGGCCCCCC	0.667													-	44806211	G	-	44806211	7	5	275	1	0	1	0	1	0	0	0	0	17694	1348	47	0	2670	0	ZMIZ2	7	44806211	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1214320	44806211	114332452	524	141589											
TNS3	64759	broad.mit.edu	37	chr7	47474972	47474972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttatccaggggcggtgCgtggagctctggccagccca	14	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:47474972C>T	uc003tnv.2	-	8	599	c.232G>A	c.(232-234)GCA>ACA	p.A78T	TNS3_uc003tnw.2_Missense_Mutation_p.A78T|TNS3_uc010kyo.1_Missense_Mutation_p.A78T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	78	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4						AGGGGCGGTGCGTGGAGCTCT	0.542													T	47474972	C	T	47474972	3	4	275	1	0	0	0	0	1	0	0	0	16341	768	27	1	4201	1	TNS3	7	47474972	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2668761	47474972	111663691	525	141590											
C7orf65	401335	broad.mit.edu	37	chr7	47694946	47694946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagggagggaggcagcGgtcaggacagtggtctttgt	18	9	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:47694946G>A	uc010kyp.1	+	1	105	c.70G>A	c.(70-72)GGT>AGT	p.G24S		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	hypothetical protein LOC401335	24											0						GGGAGGCAGCGgtcaggacag	0.323													A	47694946	G	A	47694946	3	1	275	1	0	0	0	0	1	0	0	0	2411	1130	39	1	72	1	C7orf65	7	47694946	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	219974	47694946	111443717	526	141591											
DDC	1644	broad.mit.edu	37	chr7	50595863	50595864	+	Frame_Shift_Del	DEL	TC	TC	-													gaatcaggccagccgctttgTctctctccagggcttcctgc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:50595862_50595863GTC>G	uc003tpg.4	-	5	887_888	c.686_687GAC>C	c.(685-687)gacfs	p.D229fs	DDC_uc022ade.1_Frame_Shift_Del_p.D151fs|DDC_uc003tpf.4_Frame_Shift_Del_p.D229fs|DDC_uc022adb.1_Frame_Shift_Del_p.D191fs|DDC_uc022adc.1_Intron|DDC_uc022add.1_Intron|DDC_uc022adf.1_Frame_Shift_Del_p.D229fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	229					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)	CAGCCGCTTTGTCTCTCTCCAG	0.485													-	50595864	TC	-	50595863	7	5	275	1	0	1	0	1	0	0	0	0	4325	1667	58	0	792	0	DDC	7	50595863	Frame_Shift_Del	DEL	TC	TCGA-HU-A4GX-01A-12D-A25D-08	2900917	50595863	108542800	527	141592											
SEPT14	346288	broad.mit.edu	37	chr7	55902182	55902182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgatatatctggatgCcattgctaatcaattcactc	8	9	3	1	rs149607538		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:55902182C>T	uc003tqz.2	-	6	773	c.656G>A	c.(655-657)GGC>GAC	p.G219D		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	219					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCTGGATGCCATTGCTAAT	0.363													T	55902182	C	T	55902182	3	4	275	1	0	0	0	0	1	0	0	0	14063	739	26	2	662	2	SEPT14	7	55902182	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5306319	55902182	103236481	528	141593											
GBAS	2631	broad.mit.edu	37	chr7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcctgtgccaagatccGgacctaatatatatgaactc	8	10	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:56051523G>A	uc003tre.1	+	6	555	c.547G>A	c.(547-549)GGA>AGA	p.G183R	GBAS_uc003trf.1_Missense_Mutation_p.G144R	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	183						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398													A	56051523	G	A	56051523	3	1	275	1	0	0	0	0	1	0	0	0	6269	1117	39	1	569	1	GBAS	7	56051523	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	149341	56051523	103087140	529	141594											
CLIP2	7461	broad.mit.edu	37	chr7	73753106	73753106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgacccggcagcccacGgccgagggctcggggagtga	17	13	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:73753106G>A	uc003uam.2	+	3	777	c.450G>A	c.(448-450)ACG>ACA	p.T150T	CLIP2_uc003uan.2_Silent_p.T150T	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	150						microtubule associated complex				skin(3)	3						GGCAGCCCACGGCCGAGGGCT	0.697													A	73753106	G	A	73753106	2	1	275	1	0	0	0	0	0	0	0	1	3533	1103	39	1		1	CLIP2	7	73753106	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	17701583	73753106	85385557	530	141595											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74005183	74005183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgaaccggccggtgCtggtcccttataaactaatc	11	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:74005183C>T	uc003uaq.2	+	24	2866	c.2473C>T	c.(2473-2475)CTG>TTG	p.L825L	GTF2IRD1_uc010lbq.2_Silent_p.L842L|GTF2IRD1_uc003uap.2_Silent_p.L810L|GTF2IRD1_uc003uar.1_Silent_p.L810L	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	825	GTF2I-like 5.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CCGGCCGGTGCTGGTCCCTTA	0.592													T	74005183	C	T	74005183	2	4	275	1	0	0	0	0	0	0	0	1	6868	796	28	2		2	GTF2IRD1	7	74005183	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	252077	74005183	85133480	531	141596											
UPK3B	80761	broad.mit.edu	37	chr7	76139983	76139983	+	Frame_Shift_Del	DEL	G	G	-													agctgtcatggggctaccctGggggcagcctcacctagggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:76139982_76139982TG>T	uc003ufq.3	+	0	238	c.13_13TG>T	c.(13-15)tggfs	p.W5fs	UPK3B_uc003ufo.3_Frame_Shift_Del_p.W5fs|UPK3B_uc010ldk.1_Frame_Shift_Del_p.W5fs	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	5					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)				GGGGCTACCCTGGGGGCAGCC	0.677													-	76139983	G	-	76139983	7	5	275	1	0	1	0	1	0	0	0	0	17008	1357	47	0	16	0	UPK3B	7	76139983	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	2134800	76139983	82998680	532	141597											
PTPN12	5782	broad.mit.edu	37	chr7	77256686	77256687	+	Frame_Shift_Ins	INS	-	-	A													tatcaactatcaaactaggaINSaaactgtgagtttaacacca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:77256685_77256686G>GA	uc003ugh.2	+	12	1780_1781	c.1689_1690G>GA	c.(1687-1692)aggaaafs	p.R563fs	PTPN12_uc011kgp.1_Frame_Shift_Ins_p.R444fs|PTPN12_uc011kgq.1_Frame_Shift_Ins_p.R433fs|PTPN12_uc010lds.2_Frame_Shift_Ins_p.R295fs	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	563						soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			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						ATCAAACTAGGAAAACTGTGAG	0.401													A	77256687	-	A	77256686	7	5	275	1	0	1	1	0	0	0	0	0	12781	247	9	0	1740	0	PTPN12	7	77256686	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1116703	77256686	81881977	533	141598											
MAGI2	9863	broad.mit.edu	37	chr7	77885514	77885514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcataagttcagcttgggtgGccccagatgaagccatagac	11	10	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:77885514G>A	uc003ugx.2	-	10	2047	c.1793C>T	c.(1792-1794)GCC>GTC	p.A598V	MAGI2_uc003ugy.2_Missense_Mutation_p.A598V|MAGI2_uc010ldx.1_Missense_Mutation_p.A207V|MAGI2_uc010ldy.1_Missense_Mutation_p.A207V|MAGI2_uc011kgr.1_Missense_Mutation_p.A430V|MAGI2_uc011kgs.1_Missense_Mutation_p.A435V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	598						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGCTTGGGTGGCCCCAGATGA	0.532													A	77885514	G	A	77885514	3	1	275	1	0	0	0	0	1	0	0	0	9191	1203	42	2	2626	2	MAGI2	7	77885514	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	628828	77885514	81253149	534	141599											
PCLO	27445	broad.mit.edu	37	chr7	82474764	82474764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggagttctgctgccaaCtgcttaggatcaacccctgg	10	12	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:82474764C>T	uc003uhx.2	-	13	14158	c.13869G>A	c.(13867-13869)CAG>CAA	p.Q4623Q	PCLO_uc003uhv.2_Silent_p.Q4623Q|PCLO_uc003uht.1_Silent_p.Q74Q|PCLO_uc003uhu.1_Silent_p.Q53Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4511					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGCTGCCAACTGCTTAGGAT	0.428													T	82474764	C	T	82474764	2	4	275	1	0	0	0	0	0	0	0	1	11583	564	20	4		4	PCLO	7	82474764	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4589250	82474764	76663899	535	141600											
PCLO	27445	broad.mit.edu	37	chr7	82580152	82580152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaactttttctgaaccatgAtcttttcttgttctcggaac	5	11	4	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:82580152A>G	uc003uhx.2	-	6	10041	c.9752T>C	c.(9751-9753)ATC>ACC	p.I3251T	PCLO_uc003uhv.2_Missense_Mutation_p.I3251T|PCLO_uc010lec.2_Missense_Mutation_p.I216T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3182	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGAACCATGATCTTTTCTTG	0.473													G	82580152	A	G	82580152	3	3	275	1	0	0	0	0	1	0	0	0	11583	333	12	3	5773	3	PCLO	7	82580152	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	105388	82580152	76558511	536	141601											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542523	86542524	+	Splice_Site	DEL	AA	AA	-													attgatgaaccgtctattctAaaaaaaagagcataaagtaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:86542522_86542523TAA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						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)					CCGTCTATTCTAAAAAAAAGAG	0.416													-	86542524	AA	-	86542523	8	5	275	1	0	1	0	1	0	0	1	0	8224	377	13	0		0	KIAA1324L	7	86542523	Splice_Site	DEL	AA	TCGA-HU-A4GX-01A-12D-A25D-08	3962371	86542523	72596140	537	141602											
ABCB4	5244	broad.mit.edu	37	chr7	87037363	87037363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctcaccactgtccccGccaaggggtcgtagaaccgc	11	15	1	1	rs143392573		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:87037363G>A	uc003uiv.1	-	25	3345	c.3269C>T	c.(3268-3270)GCG>GTG	p.A1090V	ABCB4_uc003uiw.1_Missense_Mutation_p.A1090V|ABCB4_uc003uix.1_Missense_Mutation_p.A1043V	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1090	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CACTGTCCCCGCCAAGGGGTC	0.498													A	87037363	G	A	87037363	3	1	275	1	0	0	0	0	1	0	0	0	43	1087	38	1	607	1	ABCB4	7	87037363	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	494840	87037363	72101300	538	141603											
SLC25A13	10165	broad.mit.edu	37	chr7	95775886	95775886	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttgtagatcccaaaaaaCcccaggtcccgcacgacaga	7	15	0	2	rs146111714	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:95775886C>A	uc003uof.3	-	14	1625	c.1434G>T	c.(1432-1434)GGG>GGT	p.G478G	SLC25A13_uc003uog.3_Silent_p.G479G|SLC25A13_uc011kik.1_Silent_p.G370G	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	478	Solcar 2.				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			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCCCAAAAAACCCCAGGTCCC	0.398													A	95775886	C	A	95775886	2	1	275	1	0	0	0	0	0	0	0	1	14475	494	18	5		5	SLC25A13	7	95775886	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	8738523	95775886	63362777	539	141604											
SHFM1	7979	broad.mit.edu	37	chr7	96324111	96324111	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggcttaaaacttaccGtaactgattagagaagtcat	7	7	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:96324111G>A	uc003uoi.2	-	2	297	c.169C>T	c.(169-171)CGA>TGA	p.R57*	SHFM1_uc010lfn.1_Missense_Mutation_p.R57W	NM_006304	NP_006295	P60896	DSS1_HUMAN	split hand/foot malformation type 1	57					proteolysis	proteasome complex	peptidase activity|protein binding				0	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AAAACTTACCGTAACTGATTA	0.333								Direct_reversal_of_damage|Homologous_recombination					A	96324111	G	A	96324111	4	1	275	1	0	0	0	0	0	1	0	0	14278	1159	40	1	51	1	SHFM1	7	96324111	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	548225	96324111	62814552	540	141605											
TRRAP	8295	broad.mit.edu	37	chr7	98547123	98547123	+	Frame_Shift_Del	DEL	G	G	-													ttcatcaccctgctgctgccGgggggtgcccagacggctgt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:98547122_98547122CG>C	uc003upp.3	+	34	5059	c.4850_4850CG>C	c.(4849-4851)ccgfs	p.P1617fs	TRRAP_uc011kis.2_Frame_Shift_Del_p.P1599fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.P1316fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1617					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|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)			CTGCTGCTGCCGGGGGGTGCC	0.597													-	98547123	G	-	98547123	7	5	275	1	0	1	0	1	0	0	0	0	16598	1103	39	0	4927	0	TRRAP	7	98547123	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	2223012	98547123	60591540	541	141606											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99103788	99103788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcacctggatgcaggagTacaacccgccaacgtttgag	11	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:99103788T>C	uc003uqv.2	+	2	245	c.121T>C	c.(121-123)TAC>CAC	p.Y41H	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.Y41H|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.Y41H|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.Y41H|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)					GATGCAGGAGTACAACCCGCC	0.537													C	99103788	T	C	99103788	3	2	275	1	0	0	0	0	1	0	0	0	17687	1638	57	3	123	3	ZKSCAN5	7	99103788	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	556665	99103788	60034875	542	141607											
AP4M1	9179	broad.mit.edu	37	chr7	99700406	99700406	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctagaactgctctccaggTgaggagggttgggctgggca	16	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:99700406T>C	uc003utb.3	+	3	462	c.254_splice	c.e3+2	p.R85_splice	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Splice_Site_p.R85_splice|AP4M1_uc010lgl.1_Splice_Site_p.R85_splice|AP4M1_uc003utc.3_Splice_Site_p.R92_splice|AP4M1_uc010lgm.2_Splice_Site|AP4M1_uc003utd.2_Splice_Site_p.R85_splice|AP4M1_uc011kjh.1_Splice_Site_p.R37_splice|AP4M1_uc003ute.3_Splice_Site|AP4M1_uc003utf.3_Splice_Site	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTCCAGGTGAGGAGGGTT	0.547													C	99700406	T	C	99700406	5	2	275	1	0	0	0	0	0	0	1	0	753	1710	59	3	266	3	AP4M1	7	99700406	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	596618	99700406	59438257	543	141608											
EPO	2056	broad.mit.edu	37	chr7	100320333	100320333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggcctggccctgctgtCggaagctgtcctgcggggcc	17	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100320333C>T	uc003uwi.2	+	4	474	c.293C>T	c.(292-294)TCG>TTG	p.S98L	EPO_uc011kkc.1_Missense_Mutation_p.S98L	NM_000799	NP_000790	P01588	EPO_HUMAN	erythropoietin precursor	98					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCCTGCTGTCGGAAGCTGTC	0.652													T	100320333	C	T	100320333	3	4	275	1	0	0	0	0	1	0	0	0	5188	893	31	1	307	1	EPO	7	100320333	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	619927	100320333	58818330	544	141609											
SLC12A9	56996	broad.mit.edu	37	chr7	100459533	100459533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaccctgggagacctcGgtgagctgccctcccactca	10	17	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100459533G>A	uc003uwp.2	+	12	1853	c.1711G>A	c.(1711-1713)GAC>AAC	p.D571N	SLC12A9_uc003uwq.2_Missense_Mutation_p.D482N|SLC12A9_uc011kki.1_Missense_Mutation_p.D102N|SLC12A9_uc003uwr.2_Missense_Mutation_p.D307N|SLC12A9_uc003uws.2_Missense_Mutation_p.D102N|SLC12A9_uc003uwt.2_Missense_Mutation_p.D307N|SLC12A9_uc003uwv.2_Missense_Mutation_p.D102N	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	571	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGAGACCTCGGTGAGCTGCC	0.507													A	100459533	G	A	100459533	3	1	275	1	0	0	0	0	1	0	0	0	14390	1130	39	1	1753	1	SLC12A9	7	100459533	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	139200	100459533	58679130	545	141610											
SRRT	51593	broad.mit.edu	37	chr7	100479332	100479333	+	Frame_Shift_Ins	INS	-	-	G													ctatgagatgccctatgctgINSgggggggtgggggcccaact							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100479331_100479332T>TG	uc003uwy.2	+	3	570_571	c.303_304T>TG	c.(301-306)gctgggfs	p.A101fs	SRRT_uc010lhl.1_Frame_Shift_Ins_p.A101fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.A101fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.A101fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(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						TGCCCTATGCTGGGGGGGGTGG	0.609													G	100479333	-	G	100479332	7	5	275	1	0	1	1	0	0	0	0	0	15171	1348	47	0	314	0	SRRT	7	100479332	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	19799	100479332	58659331	546	141611											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855928	+	Frame_Shift_Ins	INS	-	-	G													aacacggccagaaacacccgINSggggggaggctggaagatgc					rs138002558	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100855926_100855927C>CG	uc003uyd.3	-	8	1345_1346	c.889_890G>CG	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(4)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGGC	0.639													G	100855928	-	G	100855927	7	5	275	1	0	1	1	0	0	0	0	0	12103	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	376595	100855927	58282736	547	141612											
PLOD3	8985	broad.mit.edu	37	chr7	100859470	100859470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgaggaagcgcttccccGtgcccacctcagggtactgc	11	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:100859470G>A	uc003uyd.2	-	4	932	c.476C>T	c.(475-477)ACG>ATG	p.T159M	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	159					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCGCTTCCCCGTGCCCACCTC	0.632													A	100859470	G	A	100859470	3	1	275	1	0	0	0	0	1	0	0	0	12103	1145	40	1	1804	1	PLOD3	7	100859470	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3543	100859470	58279193	548	141613											
SLC26A5	375611	broad.mit.edu	37	chr7	103061308	103061308	+	Frame_Shift_Del	DEL	T	T	-													catataaatgatatttcttaTttttttaggagtacatctga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:103061307_103061307AT>A	uc003vbz.3	-	3	432	c.170_170AT>T	c.(169-171)atafs	p.I57fs	SLC26A5_uc003vbt.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbu.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbv.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Frame_Shift_Del_p.I57fs	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	57					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I57fs*1(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATATTTCTTATTTTTTTAGG	0.353													-	103061308	T	-	103061308	7	5	275	1	0	1	0	1	0	0	0	0	14520	1493	52	0	2174	0	SLC26A5	7	103061308	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	2201838	103061308	56077355	549	141614											
MLL5	55904	broad.mit.edu	37	chr7	104703837	104703837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcctccgacacctccgGcttcccctcctccatcagtc	5	22	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:104703837G>A	uc003vcm.2	+	5	760	c.226G>A	c.(226-228)GCT>ACT	p.A76T	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.A76T|MLL5_uc003vcl.2_Missense_Mutation_p.A76T|MLL5_uc010ljc.2_Missense_Mutation_p.A76T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	76					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GACACCTCCGGCTTCCCCTCC	0.373													A	104703837	G	A	104703837	3	1	275	1	0	0	0	0	1	0	0	0	9624	1203	42	2	236	2	MLL5	7	104703837	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1642529	104703837	54434826	550	141615											
PIK3CG	5294	broad.mit.edu	37	chr7	106508513	106508513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacgtcagcaacgtgcaCgacgatgagctggagttcac	12	11	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:106508513C>T	uc003vdv.3	+	2	592	c.507C>T	c.(505-507)CAC>CAT	p.H169H	PIK3CG_uc003vdu.2_Silent_p.H169H|PIK3CG_uc003vdw.2_Silent_p.H169H	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	169					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.H169H(1)		lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCAACGTGCACGACGATGAGC	0.672													T	106508513	C	T	106508513	2	4	275	1	0	0	0	0	0	0	0	1	11916	535	19	1		1	PIK3CG	7	106508513	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1804676	106508513	52630150	551	141616											
CBLL1	79872	broad.mit.edu	37	chr7	107398609	107398609	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtgatcctgtgcagcgAattgagcagtgtacacgagg	14	7	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:107398609A>G	uc003veq.2	+	6	792	c.462A>G	c.(460-462)CGA>CGG	p.R154R	CBLL1_uc011kme.1_Silent_p.R33R|CBLL1_uc011kmf.1_Silent_p.R153R	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	154					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			ovary(2)|skin(2)|lung(1)	5						CTGTGCAGCGAATTGAGCAGT	0.358													G	107398609	A	G	107398609	2	3	275	1	0	0	0	0	0	0	0	1	2703	233	9	3		3	CBLL1	7	107398609	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	890096	107398609	51740054	552	141617											
LRRN3	54674	broad.mit.edu	37	chr7	110763694	110763694	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgctacacttaaaagagtTggggataaataatatgcctg	9	5	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:110763694T>A	uc003vft.3	+	4	1912	c.866T>A	c.(865-867)TTG>TAG	p.L289*	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.L289*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.L289*	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	289	Extracellular (Potential).|LRR 10.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				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)		TTAAAAGAGTTGGGGATAAAT	0.328													A	110763694	T	A	110763694	4	1	275	1	0	0	0	0	0	1	0	0	9036	1821	63	5	868	5	LRRN3	7	110763694	Nonsense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	3365085	110763694	48374969	553	141618											
KCND2	3751	broad.mit.edu	37	chr7	119915484	119915484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcatgagtatcatcgaCgtggtggccatcctgcctta	11	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:119915484C>T	uc003vjj.1	+	1	1763	c.798C>T	c.(796-798)GAC>GAT	p.D266D		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	266	Helical; Name=Segment S3; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTATCATCGACGTGGTGGCCA	0.532													T	119915484	C	T	119915484	2	4	275	1	0	0	0	0	0	0	0	1	8019	535	19	1		1	KCND2	7	119915484	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9151790	119915484	39223179	554	141619											
C7orf58	79974	broad.mit.edu	37	chr7	120740134	120740134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatccaccaaagaaaaaaCgcttcactgtcaaggtaagc	8	10	2	1	rs145131821		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:120740134C>T	uc003vjq.3	+	7	1351	c.904C>T	c.(904-906)CGC>TGC	p.R302C	C7orf58_uc003vjr.1_Missense_Mutation_p.R302C|C7orf58_uc003vjs.3_Missense_Mutation_p.R302C|C7orf58_uc003vjt.3_Missense_Mutation_p.R82C|C7orf58_uc010lkk.1_Missense_Mutation_p.R82C	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	302						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					AAAGAAAAAACGCTTCACTGT	0.428													T	120740134	C	T	120740134	3	4	275	1	0	0	0	0	1	0	0	0	2405	536	19	1	926	1	C7orf58	7	120740134	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	824650	120740134	38398529	555	141620											
CADPS2	93664	broad.mit.edu	37	chr7	122261562	122261562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgacagtaccacgtcGgactttgacagctgaatctc	10	10	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:122261562G>A	uc010lkp.2	-	5	1240	c.1077C>T	c.(1075-1077)TCC>TCT	p.S359S	CADPS2_uc003vkg.3_Silent_p.S59S|CADPS2_uc010lkq.2_Silent_p.S359S	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	359					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						GTACCACGTCGGACTTTGACA	0.393													A	122261562	G	A	122261562	2	1	275	1	0	0	0	0	0	0	0	1	2571	1103	39	1		1	CADPS2	7	122261562	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1521428	122261562	36877101	556	141621											
TAS2R16	50833	broad.mit.edu	37	chr7	122635358	122635358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagaaagatgtgatgggTgaaagaagagaccttgatgc	14	5	0	7			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:122635358T>C	uc003vkl.1	-	1	397	c.331A>G	c.(331-333)ACC>GCC	p.T111A		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	111	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2						ATGTGATGGGTGAAAGAAGAG	0.398													C	122635358	T	C	122635358	3	2	275	1	0	0	0	0	1	0	0	0	15566	1696	59	3	548	3	TAS2R16	7	122635358	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	373796	122635358	36503305	557	141622											
GRM8	2918	broad.mit.edu	37	chr7	126173396	126173396	+	Frame_Shift_Del	DEL	C	C	-													ggcgctgtgacagatttcttCccctgctcaaatattcggtg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:126173395_126173395TC>T	uc003vlr.2	-	7	2352	c.2041_2041GA>A	c.(2041-2043)aagfs	p.K681fs	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Frame_Shift_Del_p.K681fs|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	681					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.K681K(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)	ACAGATTTCTTCCCCTGCTCA	0.507										HNSCC(24;0.065)			-	126173396	C	-	126173396	7	5	275	1	0	1	0	1	0	0	0	0	6803	842	30	0	748	0	GRM8	7	126173396	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	3538038	126173396	32965267	558	141623											
GCC1	79571	broad.mit.edu	37	chr7	127222666	127222666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccagtttcagtgtgCggtccctgaagtccagctgg	11	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127222666C>T	uc003vma.2	-	2	2148	c.1730G>A	c.(1729-1731)CGC>CAC	p.R577H		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	577	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						TTTCAGTGTGCGGTCCCTGAA	0.632													T	127222666	C	T	127222666	3	4	275	1	0	0	0	0	1	0	0	0	6285	768	27	1	601	1	GCC1	7	127222666	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1049270	127222666	31915997	559	141624											
SND1	27044	broad.mit.edu	37	chr7	127326798	127326799	+	Frame_Shift_Ins	INS	-	-	A													ccgccacacaacctgatgcaINSaaggatacccctgatgaggt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127326797_127326798C>CA	uc003vmi.3	+	1	435_436	c.209_210C>CA	c.(208-210)gcafs	p.A70fs		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	70	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	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						CAACCTGATGCAAAGGATACCC	0.564													A	127326799	-	A	127326798	7	5	275	1	0	1	1	0	0	0	0	0	14844	117	5	0	216	0	SND1	7	127326798	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	104132	127326798	31811865	560	141625											
SND1	27044	broad.mit.edu	37	chr7	127361422	127361422	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattcacctgtccagcatcCgaccaccgaggctggagggg	13	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127361422C>T	uc003vmi.2	+	10	1346	c.1120C>T	c.(1120-1122)CGA>TGA	p.R374*	SND1_uc010lle.2_Nonsense_Mutation_p.R27*	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	374	TNase-like 3.				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			ovary(2)|central_nervous_system(1)	3						GTCCAGCATCCGACCACCGAG	0.493													T	127361422	C	T	127361422	4	4	275	1	0	0	0	0	0	1	0	0	14844	644	23	1	1158	1	SND1	7	127361422	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	34624	127361422	31777241	561	141626											
SND1	27044	broad.mit.edu	37	chr7	127447606	127447607	+	Frame_Shift_Ins	INS	-	-	A													aggcccgggaatttcttcgaINSaaaaagcttattgggaagaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:127447605_127447606G>GA	uc003vmi.3	+	10	1446_1447	c.1220_1221G>GA	c.(1219-1221)cgafs	p.R407fs	SND1_uc010lle.3_Frame_Shift_Ins_p.R60fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	407	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	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						GAATTTCTTCGAAAAAAGCTTA	0.381													A	127447607	-	A	127447606	7	5	275	1	0	1	1	0	0	0	0	0	14844	233	9	0	1263	0	SND1	7	127447606	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	86184	127447606	31691057	562	141627											
SMO	6608	broad.mit.edu	37	chr7	128850945	128850945	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcacactgtgtcccacgacGggcccgtgggtgagcctcac	13	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:128850945G>T	uc003vor.2	+	10	2072	c.1792G>T	c.(1792-1794)GGG>TGG	p.G598W	SMO_uc003vos.2_Missense_Mutation_p.G273W	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	598	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GTCCCACGACGGGCCCGTGGG	0.632			Mis		skin basal cell 								T	128850945	G	T	128850945	3	4	275	1	0	0	0	0	1	0	0	0	14800	1116	39	5	1830	5	SMO	7	128850945	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1403339	128850945	30287718	563	141628											
AHCYL2	23382	broad.mit.edu	37	chr7	129019540	129019540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccaaaattggacgtcGctctttgtctcgttccattt	6	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:129019540G>A	uc011kov.1	+	2	479	c.425G>A	c.(424-426)CGC>CAC	p.R142H	AHCYL2_uc003vot.2_Missense_Mutation_p.R141H|AHCYL2_uc003vov.2_Missense_Mutation_p.R39H|AHCYL2_uc011kow.1_Missense_Mutation_p.R40H|AHCYL2_uc011kox.1_Missense_Mutation_p.R39H	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	142					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						ATTGGACGTCGCTCTTTGTCT	0.428													A	129019540	G	A	129019540	3	1	275	1	0	0	0	0	1	0	0	0	411	1087	38	1	553	1	AHCYL2	7	129019540	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	168595	129019540	30119123	564	141629											
FAM40B	57464	broad.mit.edu	37	chr7	129125495	129125495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgaggcttttaacagccGtcgctatgacagaccccagg	10	12	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:129125495G>A	uc011koy.1	+	21	2370	c.2330G>A	c.(2329-2331)CGT>CAT	p.R777H	FAM40B_uc011koz.1_Missense_Mutation_p.R269H	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	777											0						TTTAACAGCCGTCGCTATGAC	0.498													A	129125495	G	A	129125495	3	1	275	1	0	0	0	0	1	0	0	0	5561	1145	40	1	2435	1	FAM40B	7	129125495	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	105955	129125495	30013168	565	141630											
WDR91	29062	broad.mit.edu	37	chr7	134878091	134878091	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacctgggaagtgaggctCggagctgctgccgaacagac	14	12	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:134878091C>T	uc003vsp.2	-	11	1613	c.1551G>A	c.(1549-1551)CCG>CCA	p.P517P	WDR91_uc010lmq.2_Silent_p.P106P|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	517	WD 3.									breast(2)|ovary(1)|skin(1)	4						AAGTGAGGCTCGGAGCTGCTG	0.607													T	134878091	C	T	134878091	2	4	275	1	0	0	0	0	0	0	0	1	17335	871	31	1		1	WDR91	7	134878091	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5752596	134878091	24260572	566	141631											
DGKI	9162	broad.mit.edu	37	chr7	137148242	137148242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaactcttactgtagcaCgcgggagtggctgagatctt	13	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:137148242C>T	uc003vtt.2	-	28	2753	c.2752G>A	c.(2752-2754)GTG>ATG	p.V918M	DGKI_uc003vtu.2_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	918					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			ovary(1)|kidney(1)|skin(1)	3						TACTGTAGCACGCGGGAGTGG	0.532													T	137148242	C	T	137148242	3	4	275	1	0	0	0	0	1	0	0	0	4471	536	19	1	473	1	DGKI	7	137148242	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2270151	137148242	21990421	567	141632											
SVOPL	136306	broad.mit.edu	37	chr7	138333800	138333800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgggatggaggcgacgCgaatgagccagcgccacccg	16	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:138333800C>T	uc011kqh.1	-	7	617	c.617G>A	c.(616-618)CGC>CAC	p.R206H	SVOPL_uc003vue.2_Missense_Mutation_p.R54H	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	206	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						GGAGGCGACGCGAATGAGCCA	0.612													T	138333800	C	T	138333800	3	4	275	1	0	0	0	0	1	0	0	0	15421	768	27	1	897	1	SVOPL	7	138333800	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1185558	138333800	20804863	568	141633											
HIPK2	28996	broad.mit.edu	37	chr7	139311473	139311473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaggtcaatgaactccCgccggtcagccttttctacc	7	15	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:139311473C>T	uc003vvf.3	-	6	1667	c.1493G>A	c.(1492-1494)CGG>CAG	p.R498Q	HIPK2_uc003vvd.3_Missense_Mutation_p.R498Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	498	Protein kinase.|Interaction with DAXX.				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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					AATGAACTCCCGCCGGTCAGC	0.502													T	139311473	C	T	139311473	3	4	275	1	0	0	0	0	1	0	0	0	7117	652	23	1	2143	1	HIPK2	7	139311473	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	977673	139311473	19827190	569	141634											
C7orf34	135927	broad.mit.edu	37	chr7	142636664	142636664	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggggcaggaggtgcacggAtcctgctgggcactgggagc	19	9	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:142636664A>T	uc003wca.2	+	1	62	c.21A>T	c.(19-21)GGA>GGT	p.G7G		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	Error:Variant_position_missing_in_Q96L11_after_alignment						extracellular region					0	Melanoma(164;0.059)					AGGTGCACGGATCCTGCTGGG	0.627													T	142636664	A	T	142636664	2	4	275	1	0	0	0	0	0	0	0	1	2389	320	12	5		5	C7orf34	7	142636664	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	3325191	142636664	16501999	570	141635											
ZYX	7791	broad.mit.edu	37	chr7	143080027	143080027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcctctgccccaggTtccggctccggctcagagcc	10	20	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:143080027T>C	uc003wcw.2	+	5	790	c.635T>C	c.(634-636)GTT>GCT	p.V212A	ZYX_uc011ktd.1_Missense_Mutation_p.V55A|ZYX_uc003wcx.2_Missense_Mutation_p.V212A|ZYX_uc011kte.1_Missense_Mutation_p.V181A|ZYX_uc011ktf.1_Missense_Mutation_p.V55A	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	212					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CTGCCCCAGGTTCCGGCTCCG	0.438													C	143080027	T	C	143080027	3	2	275	1	0	0	0	0	1	0	0	0	18251	1725	60	3	649	3	ZYX	7	143080027	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	443363	143080027	16058636	571	141636											
ARHGEF5	7984	broad.mit.edu	37	chr7	144075916	144075916	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgatgaattggcactGgagaaagccgacgtggtgat	15	5	0	5			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:144075916G>A	uc003wel.2	+	14	4711	c.4593G>A	c.(4591-4593)CTG>CTA	p.L1531L	ARHGEF5_uc003wem.2_Silent_p.L332L	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1531	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					AATTGGCACTGGAGAAAGCCG	0.587													A	144075916	G	A	144075916	2	1	275	1	0	0	0	0	0	0	0	1	909	1335	47	4		4	ARHGEF5	7	144075916	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	995889	144075916	15062747	572	141637											
CUL1	8454	broad.mit.edu	37	chr7	148456448	148456448	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggccactgaataaacaggTacctactggtgtgagcgtgt	12	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:148456448T>C	uc010lpg.2	+	5	1060	c.534_splice	c.e5+2	p.Q178_splice	CUL1_uc003wey.2_Splice_Site_p.Q178_splice|CUL1_uc003wez.2_Splice_Site_p.Q68_splice	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1						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			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AATAAACAGGTACCTACTGGT	0.418													C	148456448	T	C	148456448	5	2	275	1	0	0	0	0	0	0	1	0	4054	1652	57	3	550	3	CUL1	7	148456448	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	4380532	148456448	10682215	573	141638											
KRBA1	84626	broad.mit.edu	37	chr7	149426385	149426385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttcacctccagctgcGtccccgcctgccaccagcgg	11	18	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:149426385G>A	uc003wfz.2	+	14	2134	c.1735G>A	c.(1735-1737)GTC>ATC	p.V579I	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	579										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCAGCTGCGTCCCCGCCTG	0.697													A	149426385	G	A	149426385	3	1	275	1	0	0	0	0	1	0	0	0	8439	1132	40	1	1780	1	KRBA1	7	149426385	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	969937	149426385	9712278	574	141639											
KCNH2	3757	broad.mit.edu	37	chr7	150648901	150648901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagccgcagcagccgcGcagtcttcagcagcccgatc	11	18	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:150648901G>A	uc003wic.2	-	7	1593	c.1580C>T	c.(1579-1581)GCG>GTG	p.A527V	KCNH2_uc003wib.2_Missense_Mutation_p.A187V|KCNH2_uc011kux.1_Missense_Mutation_p.A431V|KCNH2_uc003wid.2_Missense_Mutation_p.A187V|KCNH2_uc003wie.2_Missense_Mutation_p.A527V	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	527	Helical; Voltage-sensor; Name=Segment S4; (Potential).				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			skin(3)|ovary(1)	4	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													A	150648901	G	A	150648901	3	1	275	1	0	0	0	0	1	0	0	0	8032	1087	38	1	2204	1	KCNH2	7	150648901	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1222516	150648901	8489762	575	141640											
SLC4A2	6522	broad.mit.edu	37	chr7	150767852	150767852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccccaccatggcctttGtgcggctccgggaggctgtg	14	16	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:150767852G>A	uc003wit.3	+	12	1859	c.1603G>A	c.(1603-1605)GTG>ATG	p.V535M	SLC4A2_uc011kve.1_Missense_Mutation_p.V526M|SLC4A2_uc003wiu.3_Missense_Mutation_p.V521M|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	535	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGCCTTTGTGCGGCTCCG	0.657													A	150767852	G	A	150767852	3	1	275	1	0	0	0	0	1	0	0	0	14654	1377	48	4	1645	4	SLC4A2	7	150767852	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	118951	150767852	8370811	576	141641											
MLL3	58508	broad.mit.edu	37	chr7	151860907	151860907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttctttctgttgtttaCgaatctggaataacaaaatg	7	6	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:151860907C>T	uc003wla.2	-	43	9974	c.9755G>A	c.(9754-9756)CGT>CAT	p.R3252H	MLL3_uc003wkz.2_Missense_Mutation_p.R2313H|MLL3_uc003wky.2_Missense_Mutation_p.R761H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3252	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTGTTGTTTACGAATCTGGAA	0.428			N		medulloblastoma								T	151860907	C	T	151860907	3	4	275	1	0	0	0	0	1	0	0	0	9622	536	19	1	5048	1	MLL3	7	151860907	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1093055	151860907	7277756	577	141642											
MLL3	58508	broad.mit.edu	37	chr7	151962185	151962185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgttttaatggagtaacCgctatatccaggcacattcc	8	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:151962185C>T	uc003wla.2	-	8	1341	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	374	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATGGAGTAACCGCTATATCCA	0.448			N		medulloblastoma								T	151962185	C	T	151962185	2	4	275	1	0	0	0	0	0	0	0	1	9622	639	23	1		1	MLL3	7	151962185	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	101278	151962185	7176478	578	141643											
PTPRN2	5799	broad.mit.edu	37	chr7	157959759	157959759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccaggctgccctccccGgggggagctgggggcctctg	18	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:157959759G>A	uc003wno.2	-	6	895	c.774C>T	c.(772-774)CCC>CCT	p.P258P	PTPRN2_uc003wnp.2_Silent_p.P241P|PTPRN2_uc003wnq.2_Silent_p.P258P|PTPRN2_uc003wnr.2_Silent_p.P220P|PTPRN2_uc011kwa.1_Silent_p.P281P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	258	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	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)		TGCCCTCCCCGGGGGGAGCTG	0.652													A	157959759	G	A	157959759	2	1	275	1	0	0	0	0	0	0	0	1	12808	1103	39	1		1	PTPRN2	7	157959759	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5997574	157959759	1178904	579	141644											
PTPRN2	5799	broad.mit.edu	37	chr7	157985120	157985120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggtggcgtcggagggCgttggccagggcagcaccgc	21	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr7:157985120C>T	uc003wno.2	-	5	569	c.448G>A	c.(448-450)GCC>ACC	p.A150T	PTPRN2_uc003wnp.2_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.2_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.2_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.1_Missense_Mutation_p.A173T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	150	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	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)		CGTCGGAGGGCGTTGGCCAGG	0.652													T	157985120	C	T	157985120	3	4	275	1	0	0	0	0	1	0	0	0	12808	768	27	1	2675	1	PTPRN2	7	157985120	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	25361	157985120	1153543	580	141645											
DEFB1	1672	broad.mit.edu	37	chr8	6728283	6728283	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcagaatagagacattGccctccactgctgacgcaat	10	12	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:6728283G>A	uc003wqs.2	-	2	277	c.127C>T	c.(127-129)CAA>TAA	p.Q43*		NM_005218	NP_005209	P60022	DEFB1_HUMAN	defensin, beta 1 preproprotein	43					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region					0			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		TAGAGACATTGCCCTCCACTG	0.493													A	6728283	G	A	6728283	4	1	275	1	0	0	0	0	0	1	0	0	4394	1328	46	2	83	2	DEFB1	8	6728283	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		6728283	139635739	581	141646											
TNKS	8658	broad.mit.edu	37	chr8	9609124	9609124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatcatttttttaggctgaCgatatcagagctttgctgat	8	6	2	3	rs139610385	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:9609124C>T	uc003wss.2	+	19	2843	c.2838C>T	c.(2836-2838)GAC>GAT	p.D946D	TNKS_uc011kww.1_Silent_p.D709D|TNKS_uc010lrt.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	946					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			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		TTTAGGCTGACGATATCAGAG	0.373													T	9609124	C	T	9609124	2	4	275	1	0	0	0	0	0	0	0	1	16316	535	19	1		1	TNKS	8	9609124	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2880841	9609124	136754898	582	141647											
RP1L1	94137	broad.mit.edu	37	chr8	10480382	10480382	+	Frame_Shift_Del	DEL	G	G	-													cctggtccactgggggtcttGgggggcttcttatcagagca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:10480381_10480381TG>T	uc003wtc.3	-	1	560	c.331_331CA>A	c.(331-333)aagfs	p.K111fs		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	111					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)		CTGGGGGTCTTGGGGGGCTTC	0.652													-	10480382	G	-	10480382	7	5	275	1	0	1	0	1	0	0	0	0	13533	1335	47	0	6884	0	RP1L1	8	10480382	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	871258	10480382	135883640	583	141648											
TUSC3	7991	broad.mit.edu	37	chr8	15508312	15508312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgatgaggggacagacGtttttcagcaggtaaagagt	13	5	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:15508312G>A	uc003wwt.2	+	3	625	c.415G>A	c.(415-417)GTT>ATT	p.V139I	TUSC3_uc003wwr.2_Missense_Mutation_p.V139I|TUSC3_uc003wws.2_Missense_Mutation_p.V139I|TUSC3_uc003wwu.2_Missense_Mutation_p.V139I|TUSC3_uc003wwv.2_Missense_Mutation_p.V139I|TUSC3_uc003www.2_Missense_Mutation_p.V139I|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.V139I	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	139					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		GGGGACAGACGTTTTTCAGCA	0.343													A	15508312	G	A	15508312	3	1	275	1	0	0	0	0	1	0	0	0	16775	1145	40	1	425	1	TUSC3	8	15508312	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5027930	15508312	130855710	584	141649											
SORBS3	10174	broad.mit.edu	37	chr8	22428603	22428603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgaccgctgccgccCgctcagcccgtcaccccagc	9	24	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:22428603C>T	uc003xbv.2	+	18	1952	c.1612C>T	c.(1612-1614)CGC>TGC	p.R538C	SORBS3_uc003xbw.3_Missense_Mutation_p.R196C	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	538					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		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)		CGCTGCCGCCCGCTCAGCCCG	0.706													T	22428603	C	T	22428603	3	4	275	1	0	0	0	0	1	0	0	0	14929	652	23	1	1678	1	SORBS3	8	22428603	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6920291	22428603	123935419	585	141650											
CHMP7	91782	broad.mit.edu	37	chr8	23117743	23117743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggatctgcctgacaaccccCgcaataggcattttaccaac	7	14	1	1	rs146799525	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:23117743C>A	uc003xdc.2	+	10	1855	c.1207C>A	c.(1207-1209)CGC>AGC	p.R403S	CHMP7_uc003xdd.2_Missense_Mutation_p.R293S|CHMP7_uc003xde.2_Silent_p.P240P	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	403					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGACAACCCCCGCAATAGGCA	0.458													A	23117743	C	A	23117743	3	1	275	1	0	0	0	0	1	0	0	0	3361	652	23	5	1241	5	CHMP7	8	23117743	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	689140	23117743	123246279	586	141651											
DOCK5	80005	broad.mit.edu	37	chr8	25240190	25240190	+	Frame_Shift_Del	DEL	A	A	-													tgtcttgttttgttttccagAaaaaaagggcctcattttat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:25240190delA	uc003xeg.2	+	40	4164	c.4027delA	c.(4027-4029)AAAfs	p.K1343fs	PPP2R2A_uc003xek.2_Frame_Shift_Del_p.K132fs|DOCK5_uc003xei.2_Frame_Shift_Del_p.K913fs|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1343	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		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)		TGTTTTCCAGAAAAAAAGGGC	0.408													-	25240190	A	-	25240190	7	5	275	1	0	1	0	1	0	0	0	0	4690	260	9	0	4185	0	DOCK5	8	25240190	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	2122447	25240190	121123832	587	141652											
KCTD9	54793	broad.mit.edu	37	chr8	25292919	25292919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagctcgttcaagatttGcacagcaaagatttgcatgt	9	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:25292919G>A	uc003xeo.2	-	9	931	c.773C>T	c.(772-774)GCA>GTA	p.A258V	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_5'Flank	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	258						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTCAAGATTTGCACAGCAAAG	0.383													A	25292919	G	A	25292919	3	1	275	1	0	0	0	0	1	0	0	0	8116	1319	46	2	412	2	KCTD9	8	25292919	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	52729	25292919	121071103	588	141653											
DUSP4	1846	broad.mit.edu	37	chr8	29194651	29194651	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacgaactgcgaggtgggGgtggcgggggtcttgccccg	20	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:29194651G>T	uc003xhm.2	-	4	1467	c.1077C>A	c.(1075-1077)ACC>ACA	p.T359T	DUSP4_uc003xhl.2_Silent_p.T268T	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	359	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			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCGAGGTGGGGGTGGCGGGGG	0.697													T	29194651	G	T	29194651	2	4	275	1	0	0	0	0	0	0	0	1	4827	1219	43	5		5	DUSP4	8	29194651	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3901732	29194651	117169371	589	141654											
ADAM32	203102	broad.mit.edu	37	chr8	39022310	39022310	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actggggctctgatagcatgAtagtaacaaataaagtcatc	9	7	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:39022310A>T	uc003xmt.3	+	8	867	c.622A>T	c.(622-624)ATA>TTA	p.I208L	ADAM32_uc011lch.1_Missense_Mutation_p.I215L|ADAM32_uc003xmu.3_Missense_Mutation_p.I208L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	208	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		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)			TGATAGCATGATAGTAACAAA	0.264													T	39022310	A	T	39022310	3	4	275	1	0	0	0	0	1	0	0	0	249	333	12	5	652	5	ADAM32	8	39022310	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	9827659	39022310	107341712	590	141655											
AP3M2	10947	broad.mit.edu	37	chr8	42019858	42019858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtggtgccttggcgaCggactggggtgaaatatacc	15	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:42019858C>T	uc003xop.2	+	5	796	c.505C>T	c.(505-507)CGG>TGG	p.R169W	AP3M2_uc003xoo.2_Missense_Mutation_p.R169W|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.R54W|AP3M2_uc003xor.1_Missense_Mutation_p.R169W	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GCCTTGGCGACGGACTGGGGT	0.418													T	42019858	C	T	42019858	3	4	275	1	0	0	0	0	1	0	0	0	748	527	19	1	515	1	AP3M2	8	42019858	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2997548	42019858	104344164	591	141656											
PLAT	5327	broad.mit.edu	37	chr8	42033526	42033526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcacggtcgcatgttGtcacgaatccagtctaggta	11	11	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:42033526G>A	uc003xos.2	-	14	1883	c.1674C>T	c.(1672-1674)GAC>GAT	p.D558D	PLAT_uc010lxf.1_Silent_p.D475D|PLAT_uc010lxg.1_Silent_p.D383D|PLAT_uc003xot.2_Silent_p.D512D|PLAT_uc011lcm.1_Silent_p.D469D|PLAT_uc011lcn.1_Silent_p.D432D	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	558	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTCGCATGTTGTCACGAATCC	0.537													A	42033526	G	A	42033526	2	1	275	1	0	0	0	0	0	0	0	1	12021	1368	48	4		4	PLAT	8	42033526	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	13668	42033526	104330496	592	141657											
HGSNAT	138050	broad.mit.edu	37	chr8	43047527	43047527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaggctacatcgaccGcctgctgctgggagacgatc	13	13	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:43047527G>A	uc003xpx.3	+	13	1379	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	472	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	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)			TACATCGACCGCCTGCTGCTG	0.507													A	43047527	G	A	43047527	3	1	275	1	0	0	0	0	1	0	0	0	7088	1087	38	1	1381	1	HGSNAT	8	43047527	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1014001	43047527	103316495	593	141658											
PRKDC	5591	broad.mit.edu	37	chr8	48777212	48777212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctacagtgccacagcagagTgaggagggagcggtccacaa	15	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:48777212T>C	uc003xqi.2	-	42	5533	c.5476A>G	c.(5476-5478)ACT>GCT	p.T1826A	PRKDC_uc003xqj.2_Missense_Mutation_p.T1826A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1826					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			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CACAGCAGAGTGAGGAGGGAG	0.498								NHEJ					C	48777212	T	C	48777212	3	2	275	1	0	0	0	0	1	0	0	0	12521	1696	59	3	7094	3	PRKDC	8	48777212	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	5729685	48777212	97586810	594	141659											
MCM4	4173	broad.mit.edu	37	chr8	48883979	48883980	+	Frame_Shift_Ins	INS	-	-	A													tgagtctcagtggaatcctaINSaaaaaacaaccattgaaaac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:48883978_48883979T>TA	uc003xqk.2	+	12	2704_2705	c.1878_1879T>TA	c.(1876-1881)cctaaafs	p.P626fs	MCM4_uc003xql.2_Frame_Shift_Ins_p.P626fs|MCM4_uc011ldi.2_Frame_Shift_Ins_p.P613fs	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	626	MCM.				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|cell cycle checkpoint	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)				AGTGGAATCCTAAAAAAACAAC	0.406													A	48883980	-	A	48883979	7	5	275	1	0	1	1	0	0	0	0	0	9389	363	13	0	1925	0	MCM4	8	48883979	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	106767	48883979	97480043	595	141660											
PXDNL	137902	broad.mit.edu	37	chr8	52323922	52323922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaatcagtgggtcacgCgggtaatgaaattgagccag	12	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:52323922C>T	uc003xqu.3	-	16	2051	c.1950G>A	c.(1948-1950)CCG>CCA	p.P650P	PXDNL_uc003xqt.3_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	650					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P650P(1)		ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGGGTCACGCGGGTAATGAA	0.493													T	52323922	C	T	52323922	2	4	275	1	0	0	0	0	0	0	0	1	12848	755	27	1		1	PXDNL	8	52323922	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3439943	52323922	94040100	596	141661											
ST18	9705	broad.mit.edu	37	chr8	53055565	53055565	+	Frame_Shift_Del	DEL	T	T	-													tagaggcctctccaggaaacTttttttcctctaaattttct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:53055564_53055564CT>C	uc003xqz.2	-	11	2250	c.2094_2094AG>G	c.(2092-2094)aagfs	p.K698fs	ST18_uc011ldq.1_Frame_Shift_Del_p.K345fs|ST18_uc011ldr.1_Frame_Shift_Del_p.K663fs|ST18_uc011lds.1_Frame_Shift_Del_p.K603fs|ST18_uc003xra.2_Frame_Shift_Del_p.K698fs	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	698						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)				CTCCAGGAAACTTTTTTTCCT	0.428													-	53055565	T	-	53055565	7	5	275	1	0	1	0	1	0	0	0	0	15211	1609	56	0	1090	0	ST18	8	53055565	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	731643	53055565	93308457	597	141662											
RP1	6101	broad.mit.edu	37	chr8	55541567	55541567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtgtgatgttagtgctGtgagggacaattattgtagg	14	2	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:55541567G>A	uc003xsd.1	+	4	5273	c.5125G>A	c.(5125-5127)GTG>ATG	p.V1709M	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1709					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			skin(7)|ovary(4)|pancreas(1)	12		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)			TGTTAGTGCTGTGAGGGACAA	0.413													A	55541567	G	A	55541567	3	1	275	1	0	0	0	0	1	0	0	0	13532	1377	48	4	5135	4	RP1	8	55541567	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2486002	55541567	90822455	598	141663											
NSMAF	8439	broad.mit.edu	37	chr8	59520362	59520362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcctccttttgtagatgCggcggacatcttggagtgtt	13	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:59520362C>T	uc003xtt.2	-	11	939	c.725G>A	c.(724-726)CGC>CAC	p.R242H	NSMAF_uc011lee.1_Missense_Mutation_p.R273H|NSMAF_uc003xtu.2_Missense_Mutation_p.R242H	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	242	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTGTAGATGCGGCGGACATC	0.443													T	59520362	C	T	59520362	3	4	275	1	0	0	0	0	1	0	0	0	10674	768	27	1	2112	1	NSMAF	8	59520362	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3978795	59520362	86843660	599	141664											
BHLHE22	27319	broad.mit.edu	37	chr8	65493746	65493746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaagtacggcgaaagcgcGagccggggctcggtggccga	17	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:65493746G>A	uc003xvi.2	+	1	933	c.399G>A	c.(397-399)GCG>GCA	p.A133A	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	133	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCGAAAGCGCGAGCCGGGGCT	0.731													A	65493746	G	A	65493746	2	1	275	1	0	0	0	0	0	0	0	1	1421	1045	37	1		1	BHLHE22	8	65493746	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5973384	65493746	80870276	600	141665											
C8orf46	254778	broad.mit.edu	37	chr8	67425779	67425779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcctcatgacagatacCgccagtgccccggatctcag	9	16	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:67425779C>T	uc003xwg.2	+	5	740	c.347C>T	c.(346-348)CCG>CTG	p.P116L	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Silent_p.T95T|C8orf46_uc003xwi.2_5'UTR	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	116										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGACAGATACCGCCAGTGCCC	0.577													T	67425779	C	T	67425779	3	4	275	1	0	0	0	0	1	0	0	0	2431	652	23	1	365	1	C8orf46	8	67425779	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1932033	67425779	78938243	601	141666											
SULF1	23213	broad.mit.edu	37	chr8	70541813	70541815	+	In_Frame_Del	DEL	AGG	AGG	-													taggaggaagaaggagaggaAggagaagagacggcagagga					rs140600931		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:70541812_70541814AAGG>A	uc003xyg.2	+	17	2743_2745	c.2182_2184AAGG>A	c.(2182-2184)aag>A	p.K728del	SULF1_uc010lza.1_In_Frame_Del_p.K728del|SULF1_uc003xyd.2_In_Frame_Del_p.K728del|SULF1_uc003xye.2_In_Frame_Del_p.K728del|SULF1_uc003xyf.2_In_Frame_Del_p.K728del|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	728				K -> R (in Ref. 4; BAC11258).	apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.K728N(2)		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)			GAAGGAGAGGAAGGAGAAGAGAC	0.527													-	70541815	AGG	-	70541813	7	5	275	1	0	1	0	1	0	0	0	0	15369	72	3	0	2241	0	SULF1	8	70541813	In_Frame_Del	DEL	AGG	TCGA-HU-A4GX-01A-12D-A25D-08	3116034	70541813	75822209	602	141667											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744100	70744100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattccaatgagaatctgcGcgcaaatgaataaagccacg	8	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:70744100G>A	uc003xyl.2	-	2	1516	c.809C>T	c.(808-810)GCG>GTG	p.A270V	SLCO5A1_uc010lzb.2_Missense_Mutation_p.A270V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A270V|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A270V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	270	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGAATCTGCGCGCAAATGAA	0.502													A	70744100	G	A	70744100	3	1	275	1	0	0	0	0	1	0	0	0	14731	1087	38	1	1773	1	SLCO5A1	8	70744100	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	202287	70744100	75619922	603	141668											
PRDM14	63978	broad.mit.edu	37	chr8	70980488	70980488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatcacagaattgtctcCgtaggtcttcacttcactgg	7	13	5	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:70980488C>T	uc003xym.2	-	4	1091	c.889G>A	c.(889-891)GGA>AGA	p.G297R		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	297	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAATTGTCTCCGTAGGTCTTC	0.498													T	70980488	C	T	70980488	3	4	275	1	0	0	0	0	1	0	0	0	12455	661	23	1	846	1	PRDM14	8	70980488	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	236388	70980488	75383534	604	141669											
MSC	9242	broad.mit.edu	37	chr8	72756349	72756349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttggaggcggggaccGggtactcccgctgcagcccc	15	16	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:72756349G>A	uc003xyx.1	-	1	383	c.65C>T	c.(64-66)CCG>CTG	p.P22L	uc011lff.1_Intron|uc003xyy.2_RNA	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	22					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GGCGGGGACCGGGTACTCCCG	0.697													A	72756349	G	A	72756349	3	1	275	1	0	0	0	0	1	0	0	0	9868	1116	39	1	563	1	MSC	8	72756349	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1775861	72756349	73607673	605	141670											
KCNB2	9312	broad.mit.edu	37	chr8	73480092	73480092	+	Frame_Shift_Del	DEL	G	G	-													aggagagttaagatcaatgtGgggggcctcaaccacgaagt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:73480091_73480091TG>T	uc003xzb.3	+	1	710	c.122_122TG>T	c.(121-123)gtgfs	p.V41fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	41					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)			AAGATCAATGTGGGGGGCCTC	0.562													-	73480092	G	-	73480092	7	5	275	1	0	1	0	1	0	0	0	0	8013	1335	47	0	125	0	KCNB2	8	73480092	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	723743	73480092	72883930	606	141671											
ZFHX4	79776	broad.mit.edu	37	chr8	77767090	77767090	+	Frame_Shift_Del	DEL	A	A	-													ttgcccgcgaagtcgggctgAaaaaaagggtcgtgcaagtc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:77767089_77767089GA>G	uc003yau.2	+	9	8319	c.7932_7932GA>G	c.(7930-7932)ctgfs	p.L2644fs	ZFHX4_uc003yaw.1_Frame_Shift_Del_p.L2599fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2643R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTCGGGCTGAAAAAAAGGG	0.512										HNSCC(33;0.089)			-	77767090	A	-	77767090	7	5	275	1	0	1	0	1	0	0	0	0	17632	247	9	0	7967	0	ZFHX4	8	77767090	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	4286998	77767090	68596932	607	141672											
IMPA1	3612	broad.mit.edu	37	chr8	82592961	82592961	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccgtagcagttaccaaatCaactggagaacttttcagca	8	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:82592961C>A	uc003ych.2	-	3	248	c.121G>T	c.(121-123)GAT>TAT	p.D41Y	IMPA1_uc011lfq.1_Missense_Mutation_p.D100Y|IMPA1_uc011lfr.1_Missense_Mutation_p.D41Y	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	41					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	GTTACCAAATCAACTGGAGAA	0.303													A	82592961	C	A	82592961	3	1	275	1	0	0	0	0	1	0	0	0	7722	826	29	5	740	5	IMPA1	8	82592961	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4825871	82592961	63771061	608	141673											
CA2	760	broad.mit.edu	37	chr8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-													tggactggccgttctaggtaTttttttgaaggttagttgat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					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)	CGTTCTAGGTATTTTTTTGAA	0.388													-	86386635	T	-	86386635	7	5	275	1	0	1	0	1	0	0	0	0	2516	1493	52	0	448	0	CA2	8	86386635	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	3793674	86386635	59977387	609	141674											
OSGIN2	734	broad.mit.edu	37	chr8	90937618	90937619	+	Frame_Shift_Ins	INS	-	-	T													tgtattaaagaagccaacctINSttttgcattgggtcctttgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:90937617_90937618C>CT	uc003yeh.3	+	5	1767_1768	c.1507_1508C>CT	c.(1507-1509)cttfs	p.L503fs	OSGIN2_uc003yeg.3_Frame_Shift_Ins_p.L459fs	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	459					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)			AGAAGCCAACCTTTTTGCATTG	0.421													T	90937619	-	T	90937618	7	5	275	1	0	1	1	0	0	0	0	0	11290	1609	56	0	1530	0	OSGIN2	8	90937618	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	4550983	90937618	55426404	610	141675											
NBN	4683	broad.mit.edu	37	chr8	90949256	90949256	+	Splice_Site	DEL	A	A	-													aggtgaatcaaactttacctAaaaagatcatcagcaagaga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:90949255_90949255TA>T	uc003yej.1	-	15	2344	c.2234_splice	c.e15+1	p.R745_splice	NBN_uc011lgb.1_Splice_Site_p.D738_splice|NBN_uc003yei.1_Splice_Site_p.R663_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	745					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|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			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)			AAACTTTACCTAAAAAGATCA	0.299								Homologous recombination					-	90949256	A	-	90949256	8	5	275	1	0	1	0	1	0	0	1	0	10191	359	13	0	40	0	NBN	8	90949256	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	11638	90949256	55414766	611	141676											
DECR1	1666	broad.mit.edu	37	chr8	91031385	91031385	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagaactgatcaaagtTgcaggacatcctaatgtaag	10	7	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:91031385T>C	uc003yek.1	+	4	543	c.402T>C	c.(400-402)GTT>GTC	p.V134V	DECR1_uc011lgc.1_Silent_p.V125V|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	134					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				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGATCAAAGTTGCAGGACATC	0.368													C	91031385	T	C	91031385	2	2	275	1	0	0	0	0	0	0	0	1	4382	1799	63	3		3	DECR1	8	91031385	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	82129	91031385	55332637	612	141677											
SLC26A7	115111	broad.mit.edu	37	chr8	92401631	92401632	+	Frame_Shift_Ins	INS	-	-	T													ggattgcagtggatttacctINStttttgactattctggagtc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:92401630_92401631C>CT	uc003yez.3	+	15	1979_1980	c.1740_1741C>CT	c.(1738-1743)acctttfs	p.T580fs	SLC26A7_uc003yex.3_Frame_Shift_Ins_p.T580fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Ins_p.T580fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	580	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)			GTGGATTTACCTTTTTTGACTA	0.401													T	92401632	-	T	92401631	7	5	275	1	0	1	1	0	0	0	0	0	14522	1609	56	0	1799	0	SLC26A7	8	92401631	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1370246	92401631	53962391	613	141678											
KIAA1429	25962	broad.mit.edu	37	chr8	95523814	95523814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatagtagtaactctgtgaaGggtagtccccatgttgacat	10	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:95523814G>T	uc003ygo.1	-	13	3002	c.2989C>A	c.(2989-2991)CTT>ATT	p.L997I	KIAA1429_uc003ygp.2_Missense_Mutation_p.L997I|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	997					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACTCTGTGAAGGGTAGTCCCC	0.428													T	95523814	G	T	95523814	3	4	275	1	0	0	0	0	1	0	0	0	8231	1000	35	5	2551	5	KIAA1429	8	95523814	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3122183	95523814	50840208	614	141679											
C8orf38	137682	broad.mit.edu	37	chr8	96047721	96047721	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacaattggactgatgCgaatgcagttttggaaaaaa	10	4	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:96047721C>T	uc003yhj.2	+	3	353	c.337C>T	c.(337-339)CGA>TGA	p.R113*	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Nonsense_Mutation_p.R21*|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Nonsense_Mutation_p.R61*|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Nonsense_Mutation_p.R21*	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	113					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					TGGACTGATGCGAATGCAGTT	0.328													T	96047721	C	T	96047721	4	4	275	1	0	0	0	0	0	1	0	0	2424	760	27	1	347	1	C8orf38	8	96047721	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	523907	96047721	50316301	615	141680											
GDF6	392255	broad.mit.edu	37	chr8	97157057	97157057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgataatccagtcgtcccAgcccagctccttgaagttca	8	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:97157057A>C	uc003yhp.2	-	2	1202	c.1102T>G	c.(1102-1104)TGG>GGG	p.W368G		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	368					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			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CAGTCGTCCCAGCCCAGCTCC	0.627													C	97157057	A	C	97157057	3	2	275	1	0	0	0	0	1	0	0	0	6317	188	7	5	269	5	GDF6	8	97157057	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1109336	97157057	49206965	616	141681											
PTDSS1	9791	broad.mit.edu	37	chr8	97321797	97321797	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagacagtactacgcTtacctcaccgacacacagtg	6	14	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:97321797T>C	uc003yht.1	+	9	1122	c.1020T>C	c.(1018-1020)GCT>GCC	p.A340A	PTDSS1_uc003yhu.1_Silent_p.A194A	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	340					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGTACTACGCTTACCTCACCG	0.413													C	97321797	T	C	97321797	2	2	275	1	0	0	0	0	0	0	0	1	12736	1596	56	3		3	PTDSS1	8	97321797	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	164740	97321797	49042225	617	141682											
OSR2	116039	broad.mit.edu	37	chr8	99961493	99961493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggggccattgcccacGtcctcccagccctgcacaag	11	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:99961493G>A	uc003yir.2	+	2	848	c.313G>A	c.(313-315)GTC>ATC	p.V105I	OSR2_uc010mbn.2_Missense_Mutation_p.V105I|OSR2_uc003yiq.2_Missense_Mutation_p.V105I|OSR2_uc011lgx.1_Missense_Mutation_p.V226I	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	105					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CATTGCCCACGTCCTCCCAGC	0.652													A	99961493	G	A	99961493	3	1	275	1	0	0	0	0	1	0	0	0	11294	1145	40	1	315	1	OSR2	8	99961493	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2639696	99961493	46402529	618	141683											
VPS13B	157680	broad.mit.edu	37	chr8	100115327	100115327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtaggtgaattatgggatCgtgcattcatggatatttct	11	5	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:100115327C>T	uc003yiv.2	+	5	670	c.559C>T	c.(559-561)CGT>TGT	p.R187C	VPS13B_uc003yiw.2_Missense_Mutation_p.R187C|VPS13B_uc003yit.2_Missense_Mutation_p.R187C|VPS13B_uc003yiu.1_Missense_Mutation_p.R187C|VPS13B_uc003yis.2_Missense_Mutation_p.R187C|VPS13B_uc011lgy.1_Missense_Mutation_p.R63C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	187					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTATGGGATCGTGCATTCAT	0.333													T	100115327	C	T	100115327	3	4	275	1	0	0	0	0	1	0	0	0	17187	884	31	1	573	1	VPS13B	8	100115327	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	153834	100115327	46248695	619	141684											
KLF10	7071	broad.mit.edu	37	chr8	103663533	103663534	+	Frame_Shift_Del	DEL	GA	GA	-													cccaggagcaggggcaatggGagagagtctggtgccattcg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:103663532_103663533GGA>G	uc011lhk.1	-	2	1181_1182	c.1027_1028TCC>C	c.(1027-1029)cccfs	p.P343fs	KLF10_uc011lhj.1_Frame_Shift_Del_p.P332fs	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	343					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGGGGCAATGGGAGAGAGTCTG	0.545													-	103663534	GA	-	103663533	7	5	275	1	0	1	0	1	0	0	0	0	8338	1174	41	0	423	0	KLF10	8	103663533	Frame_Shift_Del	DEL	GA	TCGA-HU-A4GX-01A-12D-A25D-08	3548206	103663533	42700489	620	141685											
CTHRC1	115908	broad.mit.edu	37	chr8	104388118	104388118	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggaaagctttgaggagtcCtggacacccaactacaagca	11	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:104388118C>A	uc003ylk.2	+	2	402	c.303C>A	c.(301-303)TCC>TCA	p.S101S	CTHRC1_uc011lhq.1_Silent_p.S101S	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	101						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTGAGGAGTCCTGGACACCCA	0.463													A	104388118	C	A	104388118	2	1	275	1	0	0	0	0	0	0	0	1	4010	668	24	5		5	CTHRC1	8	104388118	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	724585	104388118	41975904	621	141686											
ZHX1	11244	broad.mit.edu	37	chr8	124266643	124266643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttctctggttgtaccttGtgtcactaaaccatttttta	5	8	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:124266643G>A	uc003yqe.2	-	3	1974	c.1544C>T	c.(1543-1545)ACA>ATA	p.T515I	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.T515I|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.T515I	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	515	Homeobox 2.|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			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTGTACCTTGTGTCACTAAA	0.363													A	124266643	G	A	124266643	3	1	275	1	0	0	0	0	1	0	0	0	17672	1377	48	4	1081	4	ZHX1	8	124266643	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	19878525	124266643	22097379	622	141687											
FER1L6	654463	broad.mit.edu	37	chr8	124989713	124989713	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtggcatgaacaggtgatCttcaaggaaatgttccctcc	11	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:124989713C>A	uc003yqw.2	+	10	1133	c.927C>A	c.(925-927)ATC>ATA	p.I309I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	309	C2 2.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACAGGTGATCTTCAAGGAAA	0.517													A	124989713	C	A	124989713	2	1	275	1	0	0	0	0	0	0	0	1	5815	903	32	5		5	FER1L6	8	124989713	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	723070	124989713	21374309	623	141688											
ASAP1	50807	broad.mit.edu	37	chr8	131070256	131070256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttctccctcgatgaatgTgagctcgtcatcgttgtctg	9	12	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:131070256T>C	uc003yta.1	-	28	3287	c.3259A>G	c.(3259-3261)ACA>GCA	p.T1087A	ASAP1_uc003ysz.1_Missense_Mutation_p.T898A|ASAP1_uc011liw.1_Missense_Mutation_p.T1080A	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	1087	SH3.				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			ovary(4)	4						TCGATGAATGTGAGCTCGTCA	0.448													C	131070256	T	C	131070256	3	2	275	1	0	0	0	0	1	0	0	0	1010	1696	59	3	138	3	ASAP1	8	131070256	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	6080543	131070256	15293766	624	141689											
ADCY8	114	broad.mit.edu	37	chr8	131833656	131833656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgatacctccttggtccCcaggaaatctctgttggaag	10	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:131833656C>A	uc003ytd.3	-	13	2942	c.2686G>T	c.(2686-2688)GGG>TGG	p.G896W	ADCY8_uc010mds.2_Missense_Mutation_p.G765W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	896	Helical; (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCTTGGTCCCCAGGAAATCT	0.458										HNSCC(32;0.087)			A	131833656	C	A	131833656	3	1	275	1	0	0	0	0	1	0	0	0	300	623	22	5	1093	5	ADCY8	8	131833656	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	763400	131833656	14530366	625	141690											
LRRC6	23639	broad.mit.edu	37	chr8	133627291	133627291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtctttacctatagaCagcaaggtccaggatgatct	8	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:133627291C>T	uc003ytk.2	-	8	1041	c.967G>A	c.(967-969)GTC>ATC	p.V323I	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	323	CS.					cytoplasm				ovary(1)|kidney(1)	2	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)			TACCTATAGACAGCAAGGTCC	0.303													T	133627291	C	T	133627291	3	4	275	1	0	0	0	0	1	0	0	0	9016	478	17	4	453	4	LRRC6	8	133627291	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1793635	133627291	12736731	626	141691											
WISP1	8840	broad.mit.edu	37	chr8	134203444	134203444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcagcagccgccagcacCgtcctggccacggtgagtcc	12	17	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:134203444C>T	uc003yub.2	+	1	133	c.57C>T	c.(55-57)ACC>ACT	p.T19T	WISP1_uc003yuc.2_Silent_p.T19T|WISP1_uc010meb.2_Missense_Mutation_p.R28C|WISP1_uc010mec.2_Silent_p.T19T|WISP1_uc010med.2_Silent_p.T19T	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	19					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)|kidney(1)	2	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)			CCGCCAGCACCGTCCTGGCCA	0.657													T	134203444	C	T	134203444	2	4	275	1	0	0	0	0	0	0	0	1	17369	639	23	1		1	WISP1	8	134203444	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	576153	134203444	12160578	627	141692											
KHDRBS3	10656	broad.mit.edu	37	chr8	136594256	136594256	+	Frame_Shift_Del	DEL	C	C	-													actcccagagcaagaggagtCcccccaactgggtacagacc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:136594255_136594255TC>T	uc003yuv.3	+	5	1140	c.746_746TC>T	c.(745-747)gtcfs	p.V249fs	KHDRBS3_uc003yuw.3_Frame_Shift_Del_p.V249fs|KHDRBS3_uc010mek.3_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	249	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCAAGAGGAGTCCCCCCAACT	0.562													-	136594256	C	-	136594256	7	5	275	1	0	1	0	1	0	0	0	0	8148	842	30	0	769	0	KHDRBS3	8	136594256	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	2390812	136594256	9769766	628	141693											
SCRIB	23513	broad.mit.edu	37	chr8	144887379	144887379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggccacgtggcgctgaCggaggggcccggggctctca	19	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:144887379C>T	uc003yzp.1	-	19	2580	c.2573G>A	c.(2572-2574)CGT>CAT	p.R858H	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.R858H	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	858	Interaction with ARHGEF7.				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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTGGCGCTGACGGAGGGGCCC	0.721													T	144887379	C	T	144887379	3	4	275	1	0	0	0	0	1	0	0	0	13937	536	19	1	2470	1	SCRIB	8	144887379	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	8293123	144887379	1476643	629	141694											
EPPK1	83481	broad.mit.edu	37	chr8	144946807	144946807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatgtcagccgctccagCgtgttggggtcgaggaagcg	17	9	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:144946807C>T	uc003zaa.1	-	1	628	c.615G>A	c.(613-615)ACG>ACA	p.T205T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	205	Plectin 5.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			GCCGCTCCAGCGTGTTGGGGT	0.652													T	144946807	C	T	144946807	2	4	275	1	0	0	0	0	0	0	0	1	5190	755	27	1		1	EPPK1	8	144946807	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	59428	144946807	1417215	630	141695											
CYC1	1537	broad.mit.edu	37	chr8	145152192	145152192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccataaagcggcacaagTggtcagtcctgaagagtcgg	12	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:145152192T>C	uc003zaz.3	+	7	974	c.931T>C	c.(931-933)TGG>CGG	p.W311R	CYC1_uc003zay.2_Missense_Mutation_p.W252R	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	311					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGGCACAAGTGGTCAGTCCT	0.582													C	145152192	T	C	145152192	3	2	275	1	0	0	0	0	1	0	0	0	4135	1696	59	3	957	3	CYC1	8	145152192	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	205385	145152192	1211830	631	141696											
CPSF1	29894	broad.mit.edu	37	chr8	145626108	145626108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaggatgaggagggtagGctcgtagtagccatgcagga	16	6	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:145626108G>A	uc003zcj.2	-	7	718	c.643C>T	c.(643-645)CCT>TCT	p.P215S	CPSF1_uc003zck.1_Missense_Mutation_p.P137S|CPSF1_uc011lle.1_Missense_Mutation_p.P215S|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Missense_Mutation_p.P215S	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	215					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			skin(1)	1	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)			AGGAGGGTAGGCTCGTAGTAG	0.622													A	145626108	G	A	145626108	3	1	275	1	0	0	0	0	1	0	0	0	3824	1203	42	2	3816	2	CPSF1	8	145626108	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	473916	145626108	737914	632	141697											
PPP1R16A	84988	broad.mit.edu	37	chr8	145725579	145725579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagactgccatggccgacCgtggtaggtgcggcggtgcg	19	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:145725579C>T	uc003zdd.2	+	5	1490	c.577C>T	c.(577-579)CGT>TGT	p.R193C	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.R193C|GPT_uc011lli.1_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	193						plasma membrane	protein binding				0	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)			CATGGCCGACCGTGGTAGGTG	0.677													T	145725579	C	T	145725579	3	4	275	1	0	0	0	0	1	0	0	0	12365	652	23	1	591	1	PPP1R16A	8	145725579	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	99471	145725579	638443	633	141698											
ZNF517	340385	broad.mit.edu	37	chr8	146032997	146032997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacactgaggagaagccGttccagtgcggcgagtgcgg	15	11	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:146032997G>A	uc003zed.1	+	5	803	c.696G>A	c.(694-696)CCG>CCA	p.P232P	ZNF517_uc010mgd.1_Silent_p.P138P|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.P138P|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			AGGAGAAGCCGTTCCAGTGCG	0.672													A	146032997	G	A	146032997	2	1	275	1	0	0	0	0	0	0	0	1	17958	1132	40	1		1	ZNF517	8	146032997	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	307418	146032997	331025	634	141699											
ZNF517	340385	broad.mit.edu	37	chr8	146033389	146033389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgcagaggccccaggCgggggacccgccccacgagt	16	16	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr8:146033389C>T	uc003zed.1	+	5	1195	c.1088C>T	c.(1087-1089)GCG>GTG	p.A363V	ZNF517_uc010mgd.1_Missense_Mutation_p.A269V|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.A269V|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			AGGCCCCAGGCGGGGGACCCG	0.736													T	146033389	C	T	146033389	3	4	275	1	0	0	0	0	1	0	0	0	17958	768	27	1	1102	1	ZNF517	8	146033389	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	392	146033389	330633	635	141700											
SMARCA2	6595	broad.mit.edu	37	chr9	2039686	2039686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttagcttataaaatgctGgcccgaggccagcccctccc	8	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:2039686G>A	uc003zhc.2	+	4	675	c.576G>A	c.(574-576)CTG>CTA	p.L192L	SMARCA2_uc003zhd.2_Silent_p.L192L|SMARCA2_uc010mha.2_Silent_p.L183L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	192					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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATAAAATGCTGGCCCGAGGCC	0.488													A	2039686	G	A	2039686	2	1	275	1	0	0	0	0	0	0	0	1	14769	1335	47	4		4	SMARCA2	9	2039686	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		2039686	139173745	636	141701											
VLDLR	7436	broad.mit.edu	37	chr9	2645662	2645662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatatccaactagttgaacaGctaagaaacactgtggctct	7	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:2645662G>T	uc003zhk.1	+	10	1798	c.1401G>T	c.(1399-1401)CAG>CAT	p.Q467H	VLDLR_uc003zhl.1_Missense_Mutation_p.Q467H|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.Q426H	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	467	Extracellular (Potential).|LDL-receptor class B 1.				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			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAGTTGAACAGCTAAGAAACA	0.438													T	2645662	G	T	2645662	3	4	275	1	0	0	0	0	1	0	0	0	17171	962	34	5	1439	5	VLDLR	9	2645662	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	605976	2645662	138567769	637	141702											
KIAA0020	9933	broad.mit.edu	37	chr9	2837315	2837315	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcccaagttttgtgaTacttttctcaaagttcctag	5	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:2837315T>A	uc003zhp.1	-	3	265	c.169A>T	c.(169-171)ATC>TTC	p.I57F	KIAA0020_uc010mhc.1_Missense_Mutation_p.I56F|KIAA0020_uc003zhq.1_Missense_Mutation_p.I57F	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	57						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		AGTTTTGTGATACTTTTCTCA	0.373													A	2837315	T	A	2837315	3	1	275	1	0	0	0	0	1	0	0	0	8152	1406	49	5	1841	5	KIAA0020	9	2837315	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	191653	2837315	138376116	638	141703											
INSL4	3641	broad.mit.edu	37	chr9	5231719	5231719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaatctggacgtcccaaaGgtgagagccctggactacca	12	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:5231719G>A	uc003ziy.2	+	1	301	c.196G>A	c.(196-198)GAA>AAA	p.E66K		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	66					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		ACGTCCCAAAGGTGAGAGCCC	0.512													A	5231719	G	A	5231719	3	1	275	1	0	0	0	0	1	0	0	0	7768	1014	35	4	198	4	INSL4	9	5231719	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2394404	5231719	135981712	639	141704											
RLN2	6019	broad.mit.edu	37	chr9	5304561	5304562	+	Frame_Shift_Ins	INS	-	-	A													acagactcctagcaggtggaINSaaaaaaacaggcgaggcatc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:5304560_5304561G>GA	uc003zja.1	-	0	20_21	c.20_21C>TC	c.(19-21)ttcfs	p.F7fs	RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs	NM_134441	NP_604390	P04090	REL2_HUMAN	Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA.	7					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)		CTAGCAGGTGGAAAAAAAACAG	0.535													A	5304562	-	A	5304561	7	5	275	1	0	1	1	0	0	0	0	0	13392	246	9	0	650	0	RLN2	9	5304561	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	72842	5304561	135908870	640	141705											
C9orf93	203238	broad.mit.edu	37	chr9	15745548	15745548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgcgttgtttacaagcgCtcagttggctcaccagttct	10	10	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:15745548C>A	uc003zmd.2	+	18	2905	c.2590C>A	c.(2590-2592)CTC>ATC	p.L864I	C9orf93_uc003zme.2_Missense_Mutation_p.L779I|C9orf93_uc011lmu.1_Missense_Mutation_p.L872I|C9orf93_uc003zmf.1_Missense_Mutation_p.L172I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	864											0				GBM - Glioblastoma multiforme(50;4.84e-07)		TTTACAAGCGCTCAGTTGGCT	0.328													A	15745548	C	A	15745548	3	1	275	1	0	0	0	0	1	0	0	0	2506	797	28	5	2656	5	C9orf93	9	15745548	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	10440987	15745548	125467883	641	141706											
SLC24A2	25769	broad.mit.edu	37	chr9	19516162	19516162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctgctagatggagaCggggcatgtaagaattctgt	12	7	1	3	rs138630242		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:19516162C>T	uc003zoa.1	-	10	2037	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	SLC24A2_uc003zob.1_Missense_Mutation_p.V642I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	659	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAGATGGAGACGGGGCATGTA	0.378													T	19516162	C	T	19516162	3	4	275	1	0	0	0	0	1	0	0	0	14466	536	19	1	14	1	SLC24A2	9	19516162	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3770614	19516162	121697269	642	141707											
CDKN2A	1029	broad.mit.edu	37	chr9	21971114	21971114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggcagcgtcgtgcaCgggtcgggtgagagtggcgg	20	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:21971114C>T	uc003zpk.2	-	2	456	c.244G>A	c.(244-246)GTG>ATG	p.V82M	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R137H	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	82	ANK 3.				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 binding|protein kinase binding	p.0?(1112)|p.?(13)|p.V82M(2)|p.V82V(1)|p.T79fs*37(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82L(1)|p.P81fs*38(1)|p.V82fs*44(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		GCGTCGTGCACGGGTCGGGTG	0.741		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971114	C	T	21971114	3	4	275	1	0	0	0	0	1	0	0	0	3161	536	19	1	234	1	CDKN2A	9	21971114	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2454952	21971114	119242317	643	141708											
SMU1	55234	broad.mit.edu	37	chr9	33056197	33056197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaaaggaggaatggccacGaaattccttcagggttttcc	10	9	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:33056197G>A	uc003zsf.1	-	9	1144	c.1036C>T	c.(1036-1038)CGT>TGT	p.R346C	SMU1_uc010mjo.1_Missense_Mutation_p.R346C|SMU1_uc010mjp.1_Missense_Mutation_p.R346C|SMU1_uc011lnu.1_Missense_Mutation_p.R185C	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog	346	WD 3.					cytoplasm|nucleus				ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GAATGGCCACGAAATTCCTTC	0.338													A	33056197	G	A	33056197	3	1	275	1	0	0	0	0	1	0	0	0	14817	1058	37	1	521	1	SMU1	9	33056197	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	11085083	33056197	108157234	644	141709											
NFX1	4799	broad.mit.edu	37	chr9	33294844	33294846	+	In_Frame_Del	DEL	CTT	CTT	-													agacctcagagagcatagtcCttctgagagtgagaaggaag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:33294843_33294845CCTT>C	uc003zsr.3	+	1	604_606	c.451_453CCTT>C	c.(451-453)cct>C	p.P151del	NFX1_uc011lnw.2_In_Frame_Del_p.P151del|NFX1_uc003zso.3_In_Frame_Del_p.P151del|NFX1_uc003zsp.2_In_Frame_Del_p.P151del|NFX1_uc010mjr.2_In_Frame_Del_p.P151del|NFX1_uc003zsq.3_In_Frame_Del_p.P151del	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	151					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGAGCATAGTCCTTCTGAGAGTG	0.483													-	33294846	CTT	-	33294844	7	5	275	1	0	1	0	1	0	0	0	0	10387	681	24	0	458	0	NFX1	9	33294844	In_Frame_Del	DEL	CTT	TCGA-HU-A4GX-01A-12D-A25D-08	238647	33294844	107918587	645	141710											
KIAA1161	57462	broad.mit.edu	37	chr9	34370908	34370908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctgcgccacttgccggcGggcaaatagacgtcgcgctc	13	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:34370908G>A	uc003zue.3	-	3	2201	c.2034C>T	c.(2032-2034)CCC>CCT	p.P678P		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	678	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ACTTGCCGGCGGGCAAATAGA	0.602													A	34370908	G	A	34370908	2	1	275	1	0	0	0	0	0	0	0	1	8211	1103	39	1		1	KIAA1161	9	34370908	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1076064	34370908	106842523	646	141711											
CCIN	881	broad.mit.edu	37	chr9	36170715	36170715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggaagtctggtgcctgGcaggaaagatgagcatcccc	15	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:36170715G>A	uc003zzb.3	+	1	1327	c.1216G>A	c.(1216-1218)GCA>ACA	p.A406T		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	406	Kelch 3.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			CTGGTGCCTGGCAGGAAAGAT	0.542													A	36170715	G	A	36170715	3	1	275	1	0	0	0	0	1	0	0	0	2878	1203	42	2	1218	2	CCIN	9	36170715	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1799807	36170715	105042716	647	141712											
PRKACG	5568	broad.mit.edu	37	chr9	71628547	71628547	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgagtgtaggtactggacGgccaggacgacctgggcggc	18	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:71628547G>T	uc004agy.2	-	1	493	c.462C>A	c.(460-462)GCC>GCA	p.A154A		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	154	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			ovary(1)|pancreas(1)|skin(1)	3						GGTACTGGACGGCCAGGACGA	0.622													T	71628547	G	T	71628547	2	4	275	1	0	0	0	0	0	0	0	1	12499	1103	39	5		5	PRKACG	9	71628547	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	35457832	71628547	69584884	648	141713											
PRKACG	5568	broad.mit.edu	37	chr9	71628605	71628605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgctaaaccttccgacgCgctgtaggcgggagaacatc	12	13	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:71628605C>T	uc004agy.2	-	1	435	c.404G>A	c.(403-405)CGC>CAC	p.R135H		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	135	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			ovary(1)|pancreas(1)|skin(1)	3						CCTTCCGACGCGCTGTAGGCG	0.602													T	71628605	C	T	71628605	3	4	275	1	0	0	0	0	1	0	0	0	12499	768	27	1	655	1	PRKACG	9	71628605	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	58	71628605	69584826	649	141714											
SMC5	23137	broad.mit.edu	37	chr9	72913007	72913007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagaccacggaaaactgCgagaatcttcagccccagat	8	12	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:72913007C>T	uc004ahr.2	+	9	1296	c.1179C>T	c.(1177-1179)TGC>TGT	p.C393C		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	393	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CGGAAAACTGCGAGAATCTTC	0.403													T	72913007	C	T	72913007	2	4	275	1	0	0	0	0	0	0	0	1	14786	776	27	1		1	SMC5	9	72913007	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1284402	72913007	68300424	650	141715											
FOXB2	442425	broad.mit.edu	37	chr9	79635850	79635850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagggcggctccttgcactCggtgctagtgcactcctagg	13	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:79635850C>T	uc004ako.1	+	1	1280	c.1280C>T	c.(1279-1281)TCG>TTG	p.S427L		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	427					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				0						TCCTTGCACTCGGTGCTAGTG	0.726													T	79635850	C	T	79635850	3	4	275	1	0	0	0	0	1	0	0	0	5993	893	31	1	1282	1	FOXB2	9	79635850	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6722843	79635850	61577581	651	141716											
VPS13A	23230	broad.mit.edu	37	chr9	79984308	79984308	+	Frame_Shift_Del	DEL	T	T	-													tttctgaaggtgtagaagcaTttttttatgaaccttaccag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:79984307_79984307AT>A	uc004akr.3	+	62	8906	c.8646_8646AT>A	c.(8644-8646)gcafs	p.A2882fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.A2882fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.A2843fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2882					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						GTGTAGAAGCATTTTTTTATG	0.299													-	79984308	T	-	79984308	7	5	275	1	0	1	0	1	0	0	0	0	17186	1493	52	0	8897	0	VPS13A	9	79984308	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	348458	79984308	61229123	652	141717											
TLE4	7091	broad.mit.edu	37	chr9	82335100	82335100	+	Frame_Shift_Del	DEL	C	C	-													ggcagagctgacatcctcggCccccgcctgctatgccctgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:82335099_82335099GC>G	uc004ald.3	+	16	2653	c.1804_1804GC>G	c.(1804-1806)gccfs	p.A602fs	TLE4_uc004alc.3_Frame_Shift_Del_p.A577fs|TLE4_uc010mpr.3_Frame_Shift_Del_p.A456fs|TLE4_uc004ale.3_Frame_Shift_Del_p.A214fs|TLE4_uc011lsq.2_Frame_Shift_Del_p.A545fs|TLE4_uc010mps.3_Frame_Shift_Del_p.A501fs|TLE4_uc004alf.3_Frame_Shift_Del_p.A516fs	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	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						GACATCCTCGGCCCCCGCCTG	0.597													-	82335100	C	-	82335100	7	5	275	1	0	1	0	1	0	0	0	0	15938	739	26	0	1792	0	TLE4	9	82335100	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	2350792	82335100	58878331	653	141718											
ZCCHC6	79670	broad.mit.edu	37	chr9	88960693	88960693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttgctgtagggtagtttCgtggtcgctataatttgaag	12	5	0	1	rs139153052		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:88960693C>T	uc004aoq.2	-	4	925	c.710G>A	c.(709-711)CGA>CAA	p.R237Q	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R237Q|ZCCHC6_uc004aou.2_Missense_Mutation_p.R237Q|ZCCHC6_uc004aov.2_Missense_Mutation_p.R237Q|ZCCHC6_uc004aow.2_Missense_Mutation_p.R237Q	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	237					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						AGGGTAGTTTCGTGGTCGCTA	0.363													T	88960693	C	T	88960693	3	4	275	1	0	0	0	0	1	0	0	0	17589	884	31	1	3873	1	ZCCHC6	9	88960693	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6625593	88960693	52252738	654	141719											
DAPK1	1612	broad.mit.edu	37	chr9	90315079	90315079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagctgtttgttctggatgCtggggcttctgggtcaaagg	15	6	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:90315079C>T	uc004apc.2	+	24	2936	c.2798C>T	c.(2797-2799)GCT>GTT	p.A933V	DAPK1_uc004apd.2_Missense_Mutation_p.A933V|DAPK1_uc011ltg.1_Missense_Mutation_p.A867V|DAPK1_uc011lth.1_Missense_Mutation_p.A670V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	933					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GTTCTGGATGCTGGGGCTTCT	0.463									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				T	90315079	C	T	90315079	3	4	275	1	0	0	0	0	1	0	0	0	4235	797	28	2	2888	2	DAPK1	9	90315079	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1354386	90315079	50898352	655	141720											
SECISBP2	79048	broad.mit.edu	37	chr9	91964832	91964832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccctaagatccacagccGcagattcagggagtgagtga	11	11	1	4	rs149816537		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:91964832G>A	uc004aqj.1	+	13	1960	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	SECISBP2_uc011ltk.1_Missense_Mutation_p.R626H|SECISBP2_uc004aqk.1_Missense_Mutation_p.R554H|SECISBP2_uc010mqo.1_Missense_Mutation_p.R332H|SECISBP2_uc011ltl.1_Missense_Mutation_p.R559H	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	627					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						ATCCACAGCCGCAGATTCAGG	0.552													A	91964832	G	A	91964832	3	1	275	1	0	0	0	0	1	0	0	0	14006	1087	38	1	1930	1	SECISBP2	9	91964832	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1649753	91964832	49248599	656	141721											
SEMA4D	10507	broad.mit.edu	37	chr9	92003589	92003589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaccgggccattatagcGcacccacttggtgtgggact	14	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:92003589G>A	uc004aqo.1	-	13	1641	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	SEMA4D_uc011ltm.1_Missense_Mutation_p.R357C|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R355C	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	357	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CCATTATAGCGCACCCACTTG	0.647													A	92003589	G	A	92003589	3	1	275	1	0	0	0	0	1	0	0	0	14034	1087	38	1	2113	1	SEMA4D	9	92003589	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	38757	92003589	49209842	657	141722											
IPPK	64768	broad.mit.edu	37	chr9	95397511	95397511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaggccttcgatgtccagCaggtccaacatctgcacctg	10	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95397511C>T	uc004asl.1	-	10	1273	c.996G>A	c.(994-996)CTG>CTA	p.L332L	IPPK_uc004ask.1_Silent_p.L31L	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	332					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CGATGTCCAGCAGGTCCAACA	0.577											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	95397511	C	T	95397511	2	4	275	1	0	0	0	0	0	0	0	1	7801	697	25	2		2	IPPK	9	95397511	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3393922	95397511	45815920	658	141723											
BICD2	23299	broad.mit.edu	37	chr9	95481295	95481295	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggttgggtgtctcattgttGcacatgcacacgtggtggta	14	8	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95481295G>T	uc004aso.1	-	5	1689	c.1632C>A	c.(1630-1632)TGC>TGA	p.C544*	BICD2_uc004asp.1_Nonsense_Mutation_p.C544*	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	544					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TCTCATTGTTGCACATGCACA	0.672													T	95481295	G	T	95481295	4	4	275	1	0	0	0	0	0	1	0	0	1429	1311	46	5	957	5	BICD2	9	95481295	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	83784	95481295	45732136	659	141724											
ZNF484	83744	broad.mit.edu	37	chr9	95610082	95610082	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccatagtcactgcaTttatagtaattcccctcata	4	12	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95610082T>C	uc004asu.1	-	5	1136	c.987A>G	c.(985-987)AAA>AAG	p.K329K	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.K331K|ZNF484_uc010mrb.1_Silent_p.K293K|ZNF484_uc004asv.1_Silent_p.K293K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	329	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGTCACTGCATTTATAGTAAT	0.403													C	95610082	T	C	95610082	2	2	275	1	0	0	0	0	0	0	0	1	17934	1490	52	3		3	ZNF484	9	95610082	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	128787	95610082	45603349	660	141725											
C9orf89	84270	broad.mit.edu	37	chr9	95870092	95870092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccttaccaacaaggaggcGgaaaaggtgctgaggaggtg	15	7	0	1	rs146233245	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:95870092G>A	uc004atd.2	+	2	322	c.144G>A	c.(142-144)GCG>GCA	p.A48A	C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	48	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding				0						ACAAGGAGGCGGAAAAGGTGC	0.577													A	95870092	G	A	95870092	2	1	275	1	0	0	0	0	0	0	0	1	2503	1103	39	1		1	C9orf89	9	95870092	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	260010	95870092	45343339	661	141726											
PHF2	5253	broad.mit.edu	37	chr9	96435920	96435920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcagggaatgctgtccaTggccaacctgcaggcctccg	11	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:96435920T>C	uc004aub.2	+	18	2549	c.2402T>C	c.(2401-2403)ATG>ACG	p.M801T	PHF2_uc011lug.1_Missense_Mutation_p.M684T|PHF2_uc004auc.2_Missense_Mutation_p.M221T	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	801					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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ATGCTGTCCATGGCCAACCTG	0.672													C	96435920	T	C	96435920	3	2	275	1	0	0	0	0	1	0	0	0	11830	1464	51	3	2472	3	PHF2	9	96435920	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	565828	96435920	44777511	662	141727											
GABBR2	9568	broad.mit.edu	37	chr9	101340317	101340317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttaggcccgtattttattGcatcgtagaaggctttcaac	10	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:101340317G>A	uc004ays.2	-	2	515	c.359C>T	c.(358-360)GCA>GTA	p.A120V		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	120	Extracellular (Potential).				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			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTATTTTATTGCATCGTAGAA	0.493													A	101340317	G	A	101340317	3	1	275	1	0	0	0	0	1	0	0	0	6156	1319	46	2	2538	2	GABBR2	9	101340317	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4904397	101340317	39873114	663	141728											
NR4A3	8013	broad.mit.edu	37	chr9	102590786	102590786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccccgcaggcgggggcGttatgggacgaggcactgcc	16	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:102590786G>A	uc004baf.1	+	3	1191	c.462G>A	c.(460-462)GCG>GCA	p.A154A	NR4A3_uc004bae.2_Silent_p.A154A|NR4A3_uc004bag.1_Silent_p.A154A|NR4A3_uc004bai.2_Silent_p.A165A	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	154					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGGCGGGGGCGTTATGGGACG	0.746			T	EWSR1	extraskeletal myxoid chondrosarcoma								A	102590786	G	A	102590786	2	1	275	1	0	0	0	0	0	0	0	1	10634	1132	40	1		1	NR4A3	9	102590786	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1250469	102590786	38622645	664	141729											
INVS	27130	broad.mit.edu	37	chr9	103054983	103054983	+	Frame_Shift_Del	DEL	G	G	-													tagccgccctggcagtgcccGgggggaggcggtccatgctg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:103054982_103054982CG>C	uc004bap.1	+	13	2655	c.2443_2443CG>C	c.(2443-2445)cggfs	p.R815fs	INVS_uc011lve.1_Frame_Shift_Del_p.R719fs|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Frame_Shift_Del_p.R719fs|INVS_uc010mtb.1_Frame_Shift_Del_p.R489fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	815					Wnt receptor signaling pathway|negative regulation of canonical 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)				TGGCAGTGCCCGGGGGGAGGC	0.587													-	103054983	G	-	103054983	7	5	275	1	0	1	0	1	0	0	0	0	7787	1116	39	0	2494	0	INVS	9	103054983	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	464197	103054983	38158448	665	141730											
ALDOB	229	broad.mit.edu	37	chr9	104189783	104189783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgacagatgctggcgTagcgagccagggcgttggcg	17	11	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:104189783T>C	uc004bbk.2	-	5	603	c.521A>G	c.(520-522)TAC>TGC	p.Y174C		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	174					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			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GATGCTGGCGTAGCGAGCCAG	0.512													C	104189783	T	C	104189783	3	2	275	1	0	0	0	0	1	0	0	0	508	1638	57	3	593	3	ALDOB	9	104189783	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1134800	104189783	37023648	666	141731											
ZNF462	58499	broad.mit.edu	37	chr9	109689819	109689819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggacggtcaaaggggtacTcattcattatcagaagaagc	11	9	4	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:109689819T>C	uc004bcz.2	+	3	3915	c.3626T>C	c.(3625-3627)CTC>CCC	p.L1209P	ZNF462_uc010mto.2_Missense_Mutation_p.L1057P|ZNF462_uc004bda.2_Missense_Mutation_p.L1057P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1209					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAAGGGGTACTCATTCATTAT	0.517													C	109689819	T	C	109689819	3	2	275	1	0	0	0	0	1	0	0	0	17923	1551	54	3	3632	3	ZNF462	9	109689819	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	5500036	109689819	31523612	667	141732											
ZNF462	58499	broad.mit.edu	37	chr9	109736549	109736549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgaccacatcgtgctgcAccgaggtaacctttctaact	8	12	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:109736549A>G	uc004bcz.2	+	9	7116	c.6827A>G	c.(6826-6828)CAC>CGC	p.H2276R	ZNF462_uc010mto.2_Missense_Mutation_p.H2185R|ZNF462_uc004bda.2_Missense_Mutation_p.H2184R|ZNF462_uc011lvz.1_Missense_Mutation_p.H233R|ZNF462_uc004bdb.1_Missense_Mutation_p.H184R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2276	C2H2-type 24.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ATCGTGCTGCACCGAGGTAAC	0.547													G	109736549	A	G	109736549	3	3	275	1	0	0	0	0	1	0	0	0	17923	159	6	3	6857	3	ZNF462	9	109736549	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	46730	109736549	31476882	668	141733											
MUSK	4593	broad.mit.edu	37	chr9	113510017	113510017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggactctacacatgcataGctaccaataagcatggggag	10	10	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:113510017G>T	uc004bey.2	+	7	948	c.850G>T	c.(850-852)GCT>TCT	p.A284S	MUSK_uc004bex.2_Missense_Mutation_p.A294S	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	284	Ig-like 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						CACATGCATAGCTACCAATAA	0.493													T	113510017	G	T	113510017	3	4	275	1	0	0	0	0	1	0	0	0	9989	971	34	5	910	5	MUSK	9	113510017	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3773468	113510017	27703414	669	141734											
KIAA0368	23392	broad.mit.edu	37	chr9	114151873	114151873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgcattccaaatacttGtcatggcctgtcgaatgcca	7	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:114151873G>A	uc004bfe.1	-	32	3944	c.3944C>T	c.(3943-3945)ACA>ATA	p.T1315I		NM_001080398	NP_001073867			KIAA0368 protein												0						CCAAATACTTGTCATGGCCTG	0.488													A	114151873	G	A	114151873	3	1	275	1	0	0	0	0	1	0	0	0	8171	1377	48	4	2189	4	KIAA0368	9	114151873	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	641856	114151873	27061558	670	141735											
HDHD3	81932	broad.mit.edu	37	chr9	116136420	116136420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatccagccaccactggCgggaggttaggccgtggctc	13	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:116136420C>T	uc004bhi.1	-	2	999	c.215G>A	c.(214-216)CGC>CAC	p.R72H	HDHD3_uc004bhj.2_Missense_Mutation_p.R72H|HDHD3_uc004bhk.2_Missense_Mutation_p.R72H	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	72							phosphoglycolate phosphatase activity|protein binding				0						CCACCACTGGCGGGAGGTTAG	0.612													T	116136420	C	T	116136420	3	4	275	1	0	0	0	0	1	0	0	0	7024	768	27	1	544	1	HDHD3	9	116136420	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1984547	116136420	25077011	671	141736											
RGS3	5998	broad.mit.edu	37	chr9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-													gacccggctttccacgagcaCttcttcttgtaagagtctgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:116246503_116246505ACTT>A	uc004bhq.3	+	6	820_822	c.611_613ACTT>A	c.(610-615)cacttc>cAtc	p.F207del	RGS3_uc004bhr.3_In_Frame_Del_p.F95del|RGS3_uc004bhs.3_In_Frame_Del_p.F97del	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	207	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						TTCCACGAGCACTTCTTCTTGTA	0.468													-	116246506	CTT	-	116246504	7	5	275	1	0	1	0	1	0	0	0	0	13306	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-HU-A4GX-01A-12D-A25D-08	110084	116246504	24966927	672	141737											
TNC	3371	broad.mit.edu	37	chr9	117840373	117840373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtacggtctcctggcacGtctttgatgccgtaggtcag	14	10	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:117840373G>A	uc004bjj.3	-	7	2885	c.2523C>T	c.(2521-2523)GAC>GAT	p.D841D	TNC_uc010mvf.2_Silent_p.D841D	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	841	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTCCTGGCACGTCTTTGATGC	0.542													A	117840373	G	A	117840373	2	1	275	1	0	0	0	0	0	0	0	1	16267	1136	40	1		1	TNC	9	117840373	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1593869	117840373	23373058	673	141738											
DBC1	1620	broad.mit.edu	37	chr9	121929407	121929407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgactgtttgaggatctcCgtgttgtacaggtccaaggc	12	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:121929407C>T	uc004bkc.2	-	8	2697	c.2241G>A	c.(2239-2241)ACG>ACA	p.T747T		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	747					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						TGAGGATCTCCGTGTTGTACA	0.488													T	121929407	C	T	121929407	2	4	275	1	0	0	0	0	0	0	0	1	4247	639	23	1		1	DBC1	9	121929407	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4089034	121929407	19284024	674	141739											
STOM	2040	broad.mit.edu	37	chr9	124110298	124110298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaaaaagttaccttggCgcgggcctcgcgggacgctt	12	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:124110298C>T	uc004blh.2	-	6	735	c.655G>A	c.(655-657)GCC>ACC	p.A219T	STOM_uc011lyk.1_Missense_Mutation_p.A168T|STOM_uc004bli.2_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	219	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GTTACCTTGGCGCGGGCCTCG	0.348													T	124110298	C	T	124110298	3	4	275	1	0	0	0	0	1	0	0	0	15311	768	27	1	219	1	STOM	9	124110298	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2180891	124110298	17103133	675	141740											
PDCL	5082	broad.mit.edu	37	chr9	125585301	125585301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgctaattaccttcccActgatcttctcctggaggtc	7	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:125585301A>C	uc004bmz.1	-	3	444	c.348T>G	c.(346-348)AGT>AGG	p.S116R	PDCL_uc004bna.2_Missense_Mutation_p.S116R	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	116					signal transduction|visual perception						0						TTACCTTCCCACTGATCTTCT	0.483													C	125585301	A	C	125585301	3	2	275	1	0	0	0	0	1	0	0	0	11626	156	6	5	565	5	PDCL	9	125585301	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1475003	125585301	15628130	676	141741											
SCAI	286205	broad.mit.edu	37	chr9	127781189	127781189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcgattcgatgtgatAacaatggtattatcatcatt	9	6	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:127781189A>G	uc004bpe.2	-	9	831	c.750T>C	c.(748-750)GTT>GTC	p.V250V	SCAI_uc004bpd.2_Silent_p.V273V|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	250					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			ovary(2)|breast(2)|central_nervous_system(1)	5						TCGATGTGATAACAATGGTAT	0.398													G	127781189	A	G	127781189	2	3	275	1	0	0	0	0	0	0	0	1	13869	349	13	3		3	SCAI	9	127781189	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2195888	127781189	13432242	677	141742											
ZBTB34	403341	broad.mit.edu	37	chr9	129642876	129642876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatgcgactccatatgGgaatcaccccctttgtgtgc	10	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:129642876G>A	uc004bqm.3	+	2	1283	c.1186G>A	c.(1186-1188)GGA>AGA	p.G396R		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTCCATATGGGAATCACCCC	0.488													A	129642876	G	A	129642876	3	1	275	1	0	0	0	0	1	0	0	0	17534	1233	43	4	1188	4	ZBTB34	9	129642876	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1861687	129642876	11570555	678	141743											
LCN2	3934	broad.mit.edu	37	chr9	130913968	130913968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttccaggttgccagccCggcgagttcacgctgggcaa	13	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:130913968C>T	uc004bto.1	+	3	400	c.327C>T	c.(325-327)CCC>CCT	p.P109P	LCN2_uc011map.1_Silent_p.P109P	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	109					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						GTTGCCAGCCCGGCGAGTTCA	0.587													T	130913968	C	T	130913968	2	4	275	1	0	0	0	0	0	0	0	1	8684	639	23	1		1	LCN2	9	130913968	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1271092	130913968	10299463	679	141744											
CIZ1	25792	broad.mit.edu	37	chr9	130943047	130943048	+	Frame_Shift_Ins	INS	-	-	G													ggcttcctcagacccctctgINSgggggtctgacttgtcttcc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:130943046_130943047T>TG	uc011mas.2	-	5	890_891	c.725_726A>CA	c.(724-726)ccafs	p.P242fs	CIZ1_uc004btr.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc004bts.3_Frame_Shift_Ins_p.P183fs|CIZ1_uc011maq.2_Frame_Shift_Ins_p.P207fs|CIZ1_uc004btu.3_Frame_Shift_Ins_p.P188fs|CIZ1_uc004btt.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc011mar.2_Frame_Shift_Ins_p.P111fs|CIZ1_uc004btw.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc004btv.3_Frame_Shift_Ins_p.P212fs|CIZ1_uc004btx.2_Frame_Shift_Ins_p.P188fs	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	212						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						CAGACCCCTCTGGGGGGTCTGA	0.564													G	130943048	-	G	130943047	7	5	275	1	0	1	1	0	0	0	0	0	3441	1348	47	0	2109	0	CIZ1	9	130943047	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	29079	130943047	10270384	680	141745											
SLC27A4	10999	broad.mit.edu	37	chr9	131105530	131105530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggatctggcggctggcGcttcatccgggtcttcatca	13	12	5	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:131105530G>A	uc004but.2	+	2	403	c.119G>A	c.(118-120)CGC>CAC	p.R40H	SLC27A4_uc004buu.2_Silent_p.A67A	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	40	Helical; (Potential).				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GGCGGCTGGCGCTTCATCCGG	0.587													A	131105530	G	A	131105530	3	1	275	1	0	0	0	0	1	0	0	0	14528	1087	38	1	121	1	SLC27A4	9	131105530	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	162483	131105530	10107901	681	141746											
CRAT	1384	broad.mit.edu	37	chr9	131864692	131864692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctggtagttgtgtAccacggtgatgtgcgtggga	14	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:131864692A>G	uc004bxh.2	-	5	899	c.617T>C	c.(616-618)GTA>GCA	p.V206A	CRAT_uc004bxg.2_Missense_Mutation_p.V185A|CRAT_uc004bxk.3_Missense_Mutation_p.V185A	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	206					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)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTAGTTGTGTACCACGGTGAT	0.627													G	131864692	A	G	131864692	3	3	275	1	0	0	0	0	1	0	0	0	3847	391	14	3	1303	3	CRAT	9	131864692	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	759162	131864692	9348739	682	141747											
ABL1	25	broad.mit.edu	37	chr9	133738296	133738296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgtgtcccccaactaCgacaagtgggagatggaacg	13	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:133738296C>T	uc004bzw.2	+	4	699	c.696C>T	c.(694-696)TAC>TAT	p.Y232Y	ABL1_uc004bzv.2_Silent_p.Y251Y|uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	232					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			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		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)	CCCCCAACTACGACAAGTGGG	0.577			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								T	133738296	C	T	133738296	2	4	275	1	0	0	0	0	0	0	0	1	92	547	19	1		1	ABL1	9	133738296	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1873604	133738296	7475135	683	141748											
FAM78A	286336	broad.mit.edu	37	chr9	134151373	134151373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccggaagtggggtgtcCggtagcggagcaccacgctg	18	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:134151373C>T	uc004cak.2	-	1	534	c.194G>A	c.(193-195)CGG>CAG	p.R65Q		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	65										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GTGGGGTGTCCGGTAGCGGAG	0.622													T	134151373	C	T	134151373	3	4	275	1	0	0	0	0	1	0	0	0	5626	652	23	1	665	1	FAM78A	9	134151373	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	413077	134151373	7062058	684	141749											
DDX31	64794	broad.mit.edu	37	chr9	135537941	135537941	+	Frame_Shift_Del	DEL	T	T	-													atgcttctttggagaaaacaTtttttgtgcgttccccttaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135537940_135537940AT>A	uc004cbq.1	-	1	685	c.533_533AT>T	c.(532-534)atgfs	p.M178fs	DDX31_uc010mzu.1_Frame_Shift_Del_p.M178fs|DDX31_uc004cbr.1_Frame_Shift_Del_p.M178fs|DDX31_uc004cbs.2_Frame_Shift_Del_p.M178fs	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	178						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TGGAGAAAACATTTTTTGTGC	0.423													-	135537941	T	-	135537941	7	5	275	1	0	1	0	1	0	0	0	0	4356	1493	52	0	2106	0	DDX31	9	135537941	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1386568	135537941	5675490	685	141750											
TSC1	7248	broad.mit.edu	37	chr9	135771922	135771922	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagacgcttctcccatagtCgtctcccaccgactgctgaa	8	16	2	2	rs118203746		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135771922C>T	uc004cca.2	-	23	3429	c.3195G>A	c.(3193-3195)ACG>ACA	p.T1065T	TSC1_uc004ccb.3_Silent_p.T1064T|TSC1_uc011mcq.1_Silent_p.T1014T|TSC1_uc011mcr.1_Missense_Mutation_p.R258Q	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	1065					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)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCCCATAGTCGTCTCCCACC	0.502			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	135771922	C	T	135771922	2	4	275	1	0	0	0	0	0	0	0	1	16602	871	31	1		1	TSC1	9	135771922	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	233981	135771922	5441509	686	141751											
GTF3C5	9328	broad.mit.edu	37	chr9	135927498	135927498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtcaaggccaacatcAgcgtccacccagacaagctc	8	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135927498A>G	uc004cci.3	+	5	1157	c.820A>G	c.(820-822)AGC>GGC	p.S274G	GTF3C5_uc010mzz.2_Missense_Mutation_p.S149G|GTF3C5_uc004ccj.3_Missense_Mutation_p.S274G	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	274						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGCCAACATCAGCGTCCACCC	0.567													G	135927498	A	G	135927498	3	3	275	1	0	0	0	0	1	0	0	0	6876	188	7	3	838	3	GTF3C5	9	135927498	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	155576	135927498	5285933	687	141752											
CEL	1056	broad.mit.edu	37	chr9	135940544	135940544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgaggagatcgccacacGcggaaacgtcatcgtggtca	14	12	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135940544G>A	uc010naa.1	+	4	483	c.467G>A	c.(466-468)CGC>CAC	p.R156H		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	153					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			pancreas(1)	1				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)		ATCGCCACACGCGGAAACGTC	0.607													A	135940544	G	A	135940544	3	1	275	1	0	0	0	0	1	0	0	0	3209	1087	38	1	481	1	CEL	9	135940544	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	13046	135940544	5272887	688	141753											
CEL	1056	broad.mit.edu	37	chr9	135940576	135940576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggtcaccttcaactacCgtgtcggcccccttgggttc	10	15	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:135940576C>T	uc010naa.1	+	4	515	c.499C>T	c.(499-501)CGT>TGT	p.R167C		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	164					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			pancreas(1)	1				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)		CTTCAACTACCGTGTCGGCCC	0.637													T	135940576	C	T	135940576	3	4	275	1	0	0	0	0	1	0	0	0	3209	652	23	1	513	1	CEL	9	135940576	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	32	135940576	5272855	689	141754											
SARDH	1757	broad.mit.edu	37	chr9	136573535	136573535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgggggtggtccgtgagCgagtgatggaagcgcctgcc	19	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:136573535C>T	uc004cep.3	-	11	1478	c.1344G>A	c.(1342-1344)TCG>TCA	p.S448S	SARDH_uc004ceo.2_Silent_p.S448S|SARDH_uc011mdn.1_Silent_p.S448S|SARDH_uc011mdo.1_Silent_p.S280S	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	448					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTCCGTGAGCGAGTGATGGA	0.662													T	136573535	C	T	136573535	2	4	275	1	0	0	0	0	0	0	0	1	13841	755	27	1		1	SARDH	9	136573535	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	632959	136573535	4639896	690	141755											
RXRA	6256	broad.mit.edu	37	chr9	137300840	137300840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagggcttcttcaagcggaCggtgcgcaaggacctgacct	13	12	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:137300840C>T	uc004cfb.2	+	4	647	c.485C>T	c.(484-486)ACG>ATG	p.T162M	RXRA_uc004cfc.1_Missense_Mutation_p.T65M	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	162	Nuclear receptor.				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			upper_aerodigestive_tract(1)|ovary(1)	2				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)	TTCAAGCGGACGGTGCGCAAG	0.647													T	137300840	C	T	137300840	3	4	275	1	0	0	0	0	1	0	0	0	13763	536	19	1	499	1	RXRA	9	137300840	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	727305	137300840	3912591	691	141756											
KIAA0649	9858	broad.mit.edu	37	chr9	138379776	138379776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgctggcaaagaaggaCggcggcccctggccaaccag	13	14	0	1	rs141953847	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:138379776C>T	uc004cfr.1	+	4	3969	c.3420C>T	c.(3418-3420)GAC>GAT	p.D1140D		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	1140						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CAAAGAAGGACGGCGGCCCCT	0.637													T	138379776	C	T	138379776	2	4	275	1	0	0	0	0	0	0	0	1	8187	535	19	1		1	KIAA0649	9	138379776	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1078936	138379776	2833655	692	141757											
KCNT1	57582	broad.mit.edu	37	chr9	138657599	138657599	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagaccaggacctcatgCgagccaagtgagtgctggtg	13	10	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:138657599C>T	uc011mdq.1	+	13	1404	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	KCNT1_uc011mdr.1_Nonsense_Mutation_p.R271*|KCNT1_uc010nbf.2_Nonsense_Mutation_p.R399*|KCNT1_uc004cgo.1_Nonsense_Mutation_p.R193*	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	444						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGACCTCATGCGAGCCAAGTG	0.637													T	138657599	C	T	138657599	4	4	275	1	0	0	0	0	0	1	0	0	8091	760	27	1	1380	1	KCNT1	9	138657599	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	277823	138657599	2555832	693	141758											
CAMSAP1	157922	broad.mit.edu	37	chr9	138703236	138703236	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtgagtgcgtccacActgacagacatggttttggc	13	8	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:138703236A>C	uc004cgr.3	-	17	4728	c.4728T>G	c.(4726-4728)AGT>AGG	p.S1576R	CAMSAP1_uc004cgq.3_Missense_Mutation_p.S1466R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.S1298R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1576	CKK.					cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGCGTCCACACTGACAGACA	0.512													C	138703236	A	C	138703236	3	2	275	1	0	0	0	0	1	0	0	0	2611	156	6	5	84	5	CAMSAP1	9	138703236	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	45637	138703236	2510195	694	141759											
QSOX2	169714	broad.mit.edu	37	chr9	139137477	139137477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacacggcgtcctcgcccGcgcggtacagccgcgccgca	12	21	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139137477G>A	uc010nbi.2	-	1	211	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	58	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GTCCTCGCCCGCGCGGTACAg	0.488													A	139137477	G	A	139137477	3	1	275	1	0	0	0	0	1	0	0	0	12884	1087	38	1	1971	1	QSOX2	9	139137477	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	434241	139137477	2075954	695	141760											
NOTCH1	4851	broad.mit.edu	37	chr9	139396207	139396207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcacccttaccaggcccGcggacattgacgtccatgca	10	16	0	1	rs35627681		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139396207G>A	uc004chz.2	-	30	5631	c.5631C>T	c.(5629-5631)CGC>CGT	p.R1877R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1877	Cytoplasmic (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			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TACCAGGCCCGCGGACATTGA	0.667			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			A	139396207	G	A	139396207	2	1	275	1	0	0	0	0	0	0	0	1	10547	1074	38	1		1	NOTCH1	9	139396207	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	258730	139396207	1817224	696	141761											
TRAF2	7186	broad.mit.edu	37	chr9	139820211	139820212	+	Frame_Shift_Ins	INS	-	-	T													cccgacgtgacttcatcctcINSttttcagaggccagtcaacg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139820211_139820212insT	uc010nbu.2	+	12	1537_1538	c.1364_1365insT	c.(1363-1365)TCTfs	p.S455fs	TRAF2_uc004cjv.2_Frame_Shift_Ins_p.S455fs|TRAF2_uc011mek.1_Frame_Shift_Ins_p.S444fs|TRAF2_uc010nbw.2_Frame_Shift_Ins_p.S430fs	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	455	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			ovary(1)|lung(1)|breast(1)|skin(1)	4	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)		ACTTCATCCTCTTTTCAGAGGC	0.579													T	139820212	-	T	139820211	7	5	275	1	0	1	1	0	0	0	0	0	16435	913	32	0	1402	0	TRAF2	9	139820211	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	424004	139820211	1393220	697	141762	756	2									
TRAF2	7186	broad.mit.edu	37	chr9	139820212	139820213	+	Frame_Shift_Ins	INS	-	-	T													ccgacgtgacttcatcctctINStttcagaggccagtcaacga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:139820211_139820212C>CT	uc004cjv.3	+	10	1421_1422	c.1364_1365C>CT	c.(1363-1365)tctfs	p.S455fs	TRAF2_uc010nbu.3_Frame_Shift_Ins_p.S455fs|TRAF2_uc011mek.2_Frame_Shift_Ins_p.S444fs|TRAF2_uc010nbw.3_Frame_Shift_Ins_p.S430fs	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	455	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|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)		ACTTCATCCTCTTTTCAGAGGC	0.579													T	139820213	-	T	139820212	7	5	275	1	0	1	1	0	0	0	0	0	16435	1596	56	0	1403	0	TRAF2	9	139820212	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1	139820212	1393219	698	141763	756	2									
NOXA1	10811	broad.mit.edu	37	chr9	140325730	140325730	+	Frame_Shift_Del	DEL	C	C	-													agagctggcacccaccagggCcccctcgatgcagagacaga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:140325729_140325729GC>G	uc004cmu.3	+	7	875	c.740_740GC>G	c.(739-741)ggcfs	p.G247fs	NOXA1_uc004cmv.3_Frame_Shift_Del_p.G247fs|NOXA1_uc010nch.3_Frame_Shift_Del_p.G191fs	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	247					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		ACCCACCAGGGCCCCCTCGAT	0.677													-	140325730	C	-	140325730	7	5	275	1	0	1	0	1	0	0	0	0	10560	726	26	0	771	0	NOXA1	9	140325730	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	505518	140325730	887701	699	141764											
CACNA1B	774	broad.mit.edu	37	chr9	141015984	141015984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctagcacccccggccgcGgtgggcggaggcagctcccc	16	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr9:141015984G>A	uc004cog.2	+	46	6698	c.6553G>A	c.(6553-6555)GGT>AGT	p.G2185S	CACNA1B_uc004coi.2_Missense_Mutation_p.G1397S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2185	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCCGGCCGCGGTGGGCGGAG	0.617													A	141015984	G	A	141015984	3	1	275	1	0	0	0	0	1	0	0	0	2539	1116	39	1	6735	1	CACNA1B	9	141015984	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	690254	141015984	197447	700	141765											
DIP2C	22982	broad.mit.edu	37	chr10	395292	395292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggggtagaccaaggccaCgtggtcgccgtcctgaaggt	17	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:395292C>T	uc001ifp.2	-	25	3178	c.3088G>A	c.(3088-3090)GTG>ATG	p.V1030M	DIP2C_uc009xhi.1_Missense_Mutation_p.V416M	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1030						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		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)		ACCAAGGCCACGTGGTCGCCG	0.647													T	395292	C	T	395292	3	4	275	1	0	0	0	0	1	0	0	0	4529	536	19	1	1634	1	DIP2C	10	395292	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08		395292	135139455	701	141766											
DIP2C	22982	broad.mit.edu	37	chr10	410407	410407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgctgaccaccatgaggCcatccatcttgcccaccacg	8	19	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:410407C>T	uc001ifp.2	-	20	2474	c.2384G>A	c.(2383-2385)GGC>GAC	p.G795D	DIP2C_uc009xhi.1_Missense_Mutation_p.G181D|DIP2C_uc010pzz.1_Missense_Mutation_p.G116D	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	795						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		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)		CACCATGAGGCCATCCATCTT	0.617													T	410407	C	T	410407	3	4	275	1	0	0	0	0	1	0	0	0	4529	739	26	2	2358	2	DIP2C	10	410407	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	15115	410407	135124340	702	141767											
AKR1C1	1645	broad.mit.edu	37	chr10	5014777	5014777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgcctttccttccaggGtggacccgaactccccggtg	10	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:5014777G>A	uc001iho.2	+	12	1523	c.682G>A	c.(682-684)GTG>ATG	p.V228M	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Missense_Mutation_p.V228M	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	228	NADP (By similarity).				bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	TCCTTCCAGGGTGGACCCGAA	0.592													A	5014777	G	A	5014777	3	1	275	1	0	0	0	0	1	0	0	0	469	1275	44	4	708	4	AKR1C1	10	5014777	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4604370	5014777	130519970	703	141768											
CALML5	51806	broad.mit.edu	37	chr10	5541225	5541225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgatttcgccgtcgccGtcgctgtcaacctcggagat	11	13	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:5541225G>A	uc001iic.2	-	1	309	c.177C>T	c.(175-177)GAC>GAT	p.D59D		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	59	EF-hand 2.|2 (Potential).				epidermis development|signal transduction		calcium ion binding|protein binding				0						CGCCGTCGCCGTCGCTGTCAA	0.662													A	5541225	G	A	5541225	2	1	275	1	0	0	0	0	0	0	0	1	2589	1136	40	1		1	CALML5	10	5541225	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	526448	5541225	129993522	704	141769											
SFMBT2	57713	broad.mit.edu	37	chr10	7214497	7214497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccacggcagaagacctcCgtttcttctgcacgaaaatg	9	12	2	2	rs148221260		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:7214497C>T	uc009xio.1	-	18	2202	c.2111G>A	c.(2110-2112)CGG>CAG	p.R704Q	SFMBT2_uc001ijn.1_Missense_Mutation_p.R704Q|SFMBT2_uc010qay.1_Missense_Mutation_p.R539Q	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	704					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						AGAAGACCTCCGTTTCTTCTG	0.637													T	7214497	C	T	7214497	3	4	275	1	0	0	0	0	1	0	0	0	14158	652	23	1	589	1	SFMBT2	10	7214497	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1673272	7214497	128320250	705	141770											
KIN	22944	broad.mit.edu	37	chr10	7817765	7817765	+	Splice_Site	DEL	A	A	-													cgtaaaagtagggacctcctAaaaaaaagaaagttttaagg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318													-	7817765	A	-	7817765	8	5	275	1	0	1	0	1	0	0	1	0	8315	377	13	0		0	KIN	10	7817765	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	603268	7817765	127716982	706	141771											
UPF2	26019	broad.mit.edu	37	chr10	11994207	11994208	+	Frame_Shift_Del	DEL	TT	TT	-													tcaataggaaatggatggtcTtttgtccaaacctccaaact							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:11994206_11994207CTT>C	uc001ila.3	-	13	3366_3367	c.2892_2893AAG>G	c.(2890-2895)aaagacfs	p.K964fs	UPF2_uc001ilb.3_Frame_Shift_Del_p.K964fs|UPF2_uc001ilc.3_Frame_Shift_Del_p.K964fs|UPF2_uc009xiz.2_Frame_Shift_Del_p.K964fs	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	964	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding	p.D965H(2)		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)				AATGGATGGTCTTTTGTCCAAA	0.307													-	11994208	TT	-	11994207	7	5	275	1	0	1	0	1	0	0	0	0	17001	1606	56	0	958	0	UPF2	10	11994207	Frame_Shift_Del	DEL	TT	TCGA-HU-A4GX-01A-12D-A25D-08	4176442	11994207	123540540	707	141772											
CUBN	8029	broad.mit.edu	37	chr10	16916494	16916494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagagaaattgaacacacCaccacaggctgcaacagaag	9	10	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:16916494C>A	uc001ioo.2	-	58	9167	c.9115G>T	c.(9115-9117)GGT>TGT	p.G3039C	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.G395C	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3039	CUB 23.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGAACACACCACCACAGGCT	0.393													A	16916494	C	A	16916494	3	1	275	1	0	0	0	0	1	0	0	0	4051	594	21	5	1796	5	CUBN	10	16916494	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4922287	16916494	118618253	708	141773											
CUBN	8029	broad.mit.edu	37	chr10	16942694	16942694	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtctgagttaaaagtcacGaccagctgattggaacctga	11	8	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:16942694G>A	uc001ioo.2	-	53	8392	c.8340C>T	c.(8338-8340)GTC>GTT	p.V2780V	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.V136V	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2780	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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAAAGTCACGACCAGCTGAT	0.423													A	16942694	G	A	16942694	2	1	275	1	0	0	0	0	0	0	0	1	4051	1045	37	1		1	CUBN	10	16942694	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	26200	16942694	118592053	709	141774											
SVIL	6840	broad.mit.edu	37	chr10	29754536	29754536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttacctggctggggcgCgctgtacagatcttcctgca	13	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:29754536C>T	uc001iut.1	-	34	6874	c.6121G>A	c.(6121-6123)GCG>ACG	p.A2041T	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.A955T|SVIL_uc001iuu.1_Missense_Mutation_p.A1615T	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2041	Gelsolin-like 5.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				GGCTGGGGCGCGCTGTACAGA	0.532													T	29754536	C	T	29754536	3	4	275	1	0	0	0	0	1	0	0	0	15418	768	27	1	543	1	SVIL	10	29754536	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	12811842	29754536	105780211	710	141775											
ZEB1	6935	broad.mit.edu	37	chr10	31815671	31815671	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatttgattgaacacatgCgattacattctggagaaaag	8	6	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:31815671C>T	uc001ivs.3	+	9	2917	c.2854C>T	c.(2854-2856)CGA>TGA	p.R952*	ZEB1_uc001ivr.3_Nonsense_Mutation_p.R734*|ZEB1_uc010qee.1_Nonsense_Mutation_p.R734*|ZEB1_uc010qef.1_Nonsense_Mutation_p.R734*|ZEB1_uc001ivt.3_Nonsense_Mutation_p.R734*|ZEB1_uc001ivu.3_Nonsense_Mutation_p.R953*|ZEB1_uc001ivv.3_Nonsense_Mutation_p.R932*|ZEB1_uc010qeh.1_Nonsense_Mutation_p.R885*|ZEB1_uc009xlp.2_Nonsense_Mutation_p.R936*	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	952	C2H2-type 6.				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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TGAACACATGCGATTACATTC	0.363													T	31815671	C	T	31815671	4	4	275	1	0	0	0	0	0	1	0	0	17620	760	27	1	2902	1	ZEB1	10	31815671	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2061135	31815671	103719076	711	141776											
CUL2	8453	broad.mit.edu	37	chr10	35351916	35351917	+	Frame_Shift_Ins	INS	-	-	A													atgccgaacatgattttccaINSaaaaaatcttagtttctgta							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:35351915_35351916C>CA	uc010qer.2	-	2	355_356	c.251_252G>TG	c.(250-252)ttgfs	p.L84fs	CUL2_uc021ppa.1_Frame_Shift_Ins_p.L78fs|CUL2_uc009xma.3_5'UTR|CUL2_uc001ixv.3_Frame_Shift_Ins_p.L65fs|CUL2_uc001ixw.3_Frame_Shift_Ins_p.L65fs|CUL2_uc010qes.2_Frame_Shift_Ins_p.L65fs	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	65					G1/S transition of mitotic cell cycle|cell cycle arrest|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	p.L65fs*10(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGATTTTCCAAAAAAATCTT	0.312													A	35351917	-	A	35351916	7	5	275	1	0	1	1	0	0	0	0	0	4055	131	5	0	2119	0	CUL2	10	35351916	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	3536245	35351916	100182831	712	141777											
ZNF485	220992	broad.mit.edu	37	chr10	44112703	44112703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgaacatcagagactccaTactggggaaaaaccttataa	8	8	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:44112703T>C	uc010qfc.1	+	5	1406	c.1212T>C	c.(1210-1212)CAT>CAC	p.H404H	ZNF485_uc010qfd.1_Silent_p.H313H	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	404	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGACTCCATACTGGGGAAA	0.403													C	44112703	T	C	44112703	2	2	275	1	0	0	0	0	0	0	0	1	17935	1403	49	3		3	ZNF485	10	44112703	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	8760787	44112703	91422044	713	141778											
PCDH15	65217	broad.mit.edu	37	chr10	55568902	55568904	+	In_Frame_Del	DEL	CTC	CTC	-													tctgattcaggggtggaactCtcctcctcctcagagggtgt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:55568901_55568903TCTC>T	uc021pqw.1	-	35	5311_5313	c.4916_4918GAGA>A	c.(4915-4920)gagagt>gAgt	p.S1641del	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_In_Frame_Del_p.S1636del|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	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)				GGGGTGGAACTCTCCTCCTCCTC	0.468										HNSCC(58;0.16)			-	55568904	CTC	-	55568902	7	5	275	1	0	1	0	1	0	0	0	0	11511	912	32	0	1008	0	PCDH15	10	55568902	In_Frame_Del	DEL	CTC	TCGA-HU-A4GX-01A-12D-A25D-08	11456199	55568902	79965845	714	141779											
PCDH15	65217	broad.mit.edu	37	chr10	55581859	55581859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgccttttggttctctcTgagggtctgttttacacact	10	9	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:55581859T>C	uc001jju.1	-	33	6022	c.5627A>G	c.(5626-5628)CAG>CGG	p.Q1876R	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.Q730R|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1873R|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1836R|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1807R|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1883R|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1878R|PCDH15_uc010qia.1_Missense_Mutation_p.Q1856R|PCDH15_uc010qib.1_Missense_Mutation_p.Q1853R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1876	Cytoplasmic (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTTCTCTCTGAGGGTCTGT	0.393										HNSCC(58;0.16)			C	55581859	T	C	55581859	3	2	275	1	0	0	0	0	1	0	0	0	11511	1580	55	3	1850	3	PCDH15	10	55581859	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	12957	55581859	79952888	715	141780											
ANK3	288	broad.mit.edu	37	chr10	62149221	62149221	+	Frame_Shift_Del	DEL	T	T	-													ggaccgtttgcggtgtttccTttttttctcaggctcttctt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:62149221delT	uc001jky.2	-	1	268	c.76delA	c.(76-78)AGGfs	p.R26fs	ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	26					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CGGTGTTTCCTTTTTTTCTCA	0.398													-	62149221	T	-	62149221	7	5	275	1	0	1	0	1	0	0	0	0	622	1608	56	0	13562	0	ANK3	10	62149221	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	6567362	62149221	73385526	716	141781											
H2AFY2	55506	broad.mit.edu	37	chr10	71851665	71851665	+	Frame_Shift_Del	DEL	G	G	-													aaggccacgtcaggcaagaaGggggggaagaaatccaaggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:71851664_71851664AG>A	uc001jqm.3	+	3	890	c.431_431AG>A	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				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						TCAGGCAAGAAGGGGGGGAAG	0.592													-	71851665	G	-	71851665	7	5	275	1	0	1	0	1	0	0	0	0	6930	991	35	0	442	0	H2AFY2	10	71851665	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	9702444	71851665	63683082	717	141782											
CDH23	64072	broad.mit.edu	37	chr10	73544152	73544152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatctgtgcccgtgaccGggggatgcccccactcagct	12	16	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:73544152G>A	uc001jrx.3	+	40	5854	c.5477G>A	c.(5476-5478)CGG>CAG	p.R1826Q		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1826	Cadherin 17.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GCCCGTGACCGGGGGATGCCC	0.617													A	73544152	G	A	73544152	3	1	275	1	0	0	0	0	1	0	0	0	3108	1116	39	1	5984	1	CDH23	10	73544152	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1692487	73544152	61990595	718	141783											
CHST3	9469	broad.mit.edu	37	chr10	73767281	73767281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctacctcttcgagccGctgtggcacatcgagcgcac	9	15	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:73767281G>A	uc001jsn.2	+	3	932	c.492G>A	c.(490-492)CCG>CCA	p.P164P		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	164	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						TCTTCGAGCCGCTGTGGCACA	0.672													A	73767281	G	A	73767281	2	1	275	1	0	0	0	0	0	0	0	1	3405	1074	38	1		1	CHST3	10	73767281	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	223129	73767281	61767466	719	141784											
ANXA7	310	broad.mit.edu	37	chr10	75143004	75143004	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtccttttcaaggtctcGtccaaattctgactgataac	6	10	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:75143004G>A	uc001jtz.2	-	10	986	c.913C>T	c.(913-915)CGA>TGA	p.R305*	ANXA7_uc001jua.2_Nonsense_Mutation_p.R283*|ANXA7_uc001jub.2_Nonsense_Mutation_p.R243*|ANXA7_uc010qki.1_Nonsense_Mutation_p.R193*|ANXA7_uc009xre.2_Nonsense_Mutation_p.R212*|ANXA7_uc009xrf.1_Nonsense_Mutation_p.R225*	NM_004034	NP_004025	P20073	ANXA7_HUMAN	annexin VII isoform 2	305	Annexin 2.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TCAAGGTCTCGTCCAAATTCT	0.413													A	75143004	G	A	75143004	4	1	275	1	0	0	0	0	0	1	0	0	723	1153	40	1	573	1	ANXA7	10	75143004	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1375723	75143004	60391743	720	141785											
USP54	159195	broad.mit.edu	37	chr10	75335385	75335385	+	Frame_Shift_Del	DEL	C	C	-													tcccttgtacactaccacgaCcccctgaaaaataatttctc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:75335384_75335384AC>A	uc001juo.3	-	0	50	c.33_33GT>T	c.(31-33)ggtfs	p.G11fs	USP54_uc001jup.3_Frame_Shift_Del_p.G11fs|USP54_uc010qkl.1_Frame_Shift_Del_p.G11fs	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	11					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)					CACTACCACGACCCCCTGAAA	0.453													-	75335385	C	-	75335385	7	5	275	1	0	1	0	1	0	0	0	0	17082	507	18	0	5110	0	USP54	10	75335385	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	192381	75335385	60199362	721	141786											
TSPAN14	81619	broad.mit.edu	37	chr10	82269142	82269142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggactgggtgagggaccGgttccgggagttcttcgaga	17	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:82269142G>A	uc001kcj.3	+	5	472	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Missense_Mutation_p.R105Q	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	tetraspanin 14 isoform 1	122						integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)			GTGAGGGACCGGTTCCGGGAG	0.577													A	82269142	G	A	82269142	3	1	275	1	0	0	0	0	1	0	0	0	16635	1116	39	1	379	1	TSPAN14	10	82269142	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6933757	82269142	53265605	722	141787											
MMRN2	79812	broad.mit.edu	37	chr10	88702923	88702923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcgacacggcgtccaCggcgttctgcagggcctgca	15	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:88702923C>T	uc001kea.2	-	6	1745	c.1618G>A	c.(1618-1620)GTG>ATG	p.V540M	MMRN2_uc010qmn.1_Missense_Mutation_p.V183M|MMRN2_uc009xtb.2_Missense_Mutation_p.V497M	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	540						extracellular space				large_intestine(1)	1						ACGGCGTCCACGGCGTTCTGC	0.746													T	88702923	C	T	88702923	3	4	275	1	0	0	0	0	1	0	0	0	9671	536	19	1	1239	1	MMRN2	10	88702923	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6433781	88702923	46831824	723	141788											
MYOF	26509	broad.mit.edu	37	chr10	95097652	95097652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcataaaatttactccaccAgtccacgatttcttcctcct	3	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:95097652A>G	uc001kin.2	-	40	4480	c.4357T>C	c.(4357-4359)TGG>CGG	p.W1453R	MYOF_uc001kio.2_Missense_Mutation_p.W1440R|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1453	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TTACTCCACCAGTCCACGATT	0.398													G	95097652	A	G	95097652	3	3	275	1	0	0	0	0	1	0	0	0	10089	188	7	3	1888	3	MYOF	10	95097652	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	6394729	95097652	40437095	724	141789											
MYOF	26509	broad.mit.edu	37	chr10	95107459	95107459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgatggtgcactggccgacGacaggcttccgcccaaactg	12	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:95107459G>A	uc001kin.2	-	37	4287	c.4164C>T	c.(4162-4164)GTC>GTT	p.V1388V	MYOF_uc001kio.2_Silent_p.V1375V|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1388	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						ACTGGCCGACGACAGGCTTCC	0.572													A	95107459	G	A	95107459	2	1	275	1	0	0	0	0	0	0	0	1	10089	1045	37	1		1	MYOF	10	95107459	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	9807	95107459	40427288	725	141790											
LGI1	9211	broad.mit.edu	37	chr10	95552602	95552602	+	Frame_Shift_Del	DEL	C	C	-													gaagacatctactgcgaaggCcccccagaatacaagaagcg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:95552601_95552601GC>G	uc001kjc.4	+	5	941	c.605_605GC>G	c.(604-606)ggcfs	p.G202fs	LGI1_uc021pwk.1_Frame_Shift_Del_p.G202fs|LGI1_uc010qnv.2_Frame_Shift_Del_p.G154fs|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAA	0.423													-	95552602	C	-	95552602	7	5	275	1	0	1	0	1	0	0	0	0	8751	726	26	0	628	0	LGI1	10	95552602	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	445143	95552602	39982145	726	141791											
PDLIM1	9124	broad.mit.edu	37	chr10	96997770	96997770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagtagatttgatcctccAcaaagaaatggcccttctgt	7	11	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:96997770A>G	uc001kkh.2	-	7	1011	c.902T>C	c.(901-903)GTG>GCG	p.V301A	PDLIM1_uc001kki.2_3'UTR|PDLIM1_uc009xuv.2_3'UTR|PDLIM1_uc001kkj.1_3'UTR	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	301	LIM zinc-binding.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TTGATCCTCCACAAAGAAATG	0.537													G	96997770	A	G	96997770	3	3	275	1	0	0	0	0	1	0	0	0	11679	159	6	3	91	3	PDLIM1	10	96997770	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1445168	96997770	38536977	727	141792											
BTRC	8945	broad.mit.edu	37	chr10	103310573	103310574	+	Frame_Shift_Ins	INS	-	-	C													tccagctgcccaagctgaacINSccccccgttccccttctcga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:103310572_103310573A>AC	uc001kta.3	+	13	1886_1887	c.1773_1774A>AC	c.(1771-1776)gaacccfs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Ins_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Ins_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													C	103310574	-	C	103310573	7	5	275	1	0	1	1	0	0	0	0	0	1569	507	18	0	1828	0	BTRC	10	103310573	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	6312803	103310573	32224174	728	141793											
LDB1	8861	broad.mit.edu	37	chr10	103868036	103868036	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctctcgtcctcgtccccGaactccccgcccatcagggt	8	20	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:103868036G>A	uc009xwz.2	-	11	1393	c.1050C>T	c.(1048-1050)TTC>TTT	p.F350F	LDB1_uc001kuk.3_Silent_p.F314F	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	350	LIM-binding domain (LID) (By similarity).				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			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CCTCGTCCCCGAACTCCCCGC	0.637													A	103868036	G	A	103868036	2	1	275	1	0	0	0	0	0	0	0	1	8695	1049	37	1		1	LDB1	10	103868036	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	557463	103868036	31666711	729	141794											
PDCD11	22984	broad.mit.edu	37	chr10	105184857	105184857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgacctctcacctcaaCgacaccttccgctttgactc	4	19	2	2	rs142048126	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:105184857C>T	uc001kwy.1	+	20	2967	c.2880C>T	c.(2878-2880)AAC>AAT	p.N960N		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	960					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		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)		CTCACCTCAACGACACCTTCC	0.552													T	105184857	C	T	105184857	2	4	275	1	0	0	0	0	0	0	0	1	11617	535	19	1		1	PDCD11	10	105184857	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1316821	105184857	30349890	730	141795											
CALHM2	51063	broad.mit.edu	37	chr10	105207116	105207116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatcatccttgttgagCgccacaaagccaaagaagcg	8	13	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:105207116C>T	uc001kwz.2	-	3	1151	c.765G>A	c.(763-765)GCG>GCA	p.A255A	CALHM2_uc001kxa.2_Silent_p.A255A|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.A255A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	255						integral to membrane				skin(1)	1						CCTTGTTGAGCGCCACAAAGC	0.597													T	105207116	C	T	105207116	2	4	275	1	0	0	0	0	0	0	0	1	2583	755	27	1		1	CALHM2	10	105207116	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	22259	105207116	30327631	731	141796											
COL17A1	1308	broad.mit.edu	37	chr10	105815734	105815734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctccagctcatccacaCgcgccttcagcttcctcacc	4	21	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:105815734C>T	uc001kxr.2	-	18	1662	c.1493G>A	c.(1492-1494)CGT>CAT	p.R498H	COL17A1_uc010qqv.1_Missense_Mutation_p.R482H	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	498	Extracellular (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		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)		CTCATCCACACGCGCCTTCAG	0.597													T	105815734	C	T	105815734	3	4	275	1	0	0	0	0	1	0	0	0	3674	536	19	1	3156	1	COL17A1	10	105815734	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	608618	105815734	29719013	732	141797											
ITPRIP	85450	broad.mit.edu	37	chr10	106075664	106075664	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcaactgctccagcTgcagcttctcctggtgcgcc	11	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:106075664T>C	uc001kye.2	-	2	219	c.146A>G	c.(145-147)CAG>CGG	p.Q49R	ITPRIP_uc001kyf.2_Missense_Mutation_p.Q49R|ITPRIP_uc001kyg.2_Missense_Mutation_p.Q49R	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	49	Potential.					plasma membrane					0						CTGCTCCAGCTGCAGCTTCTC	0.647													C	106075664	T	C	106075664	3	2	275	1	0	0	0	0	1	0	0	0	7923	1580	55	3	1501	3	ITPRIP	10	106075664	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	259930	106075664	29459083	733	141798											
ABLIM1	3983	broad.mit.edu	37	chr10	116417865	116417865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caatcagtctctttctgttcGagcccctggcactggttctc	8	14	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:116417865G>A	uc010qsg.1	-	1	194	c.95C>T	c.(94-96)TCG>TTG	p.S32L	ABLIM1_uc010qsh.1_Intron|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc009xyp.2_Intron|ABLIM1_uc001lbz.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	32					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTTCTGTTCGAGCCCCTGGC	0.527													A	116417865	G	A	116417865	3	1	275	1	0	0	0	0	1	0	0	0	94	1059	37	1	2417	1	ABLIM1	10	116417865	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	10342201	116417865	19116882	734	141799											
GFRA1	2674	broad.mit.edu	37	chr10	117884986	117884986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacggggtgatgtacgcCgacctgtacttcttgcaaat	12	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:117884986C>T	uc001lcj.2	-	6	1214	c.516G>A	c.(514-516)TCG>TCA	p.S172S	GFRA1_uc001lci.2_Silent_p.S167S|GFRA1_uc009xyr.2_Silent_p.S167S	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	172	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGATGTACGCCGACCTGTACT	0.577													T	117884986	C	T	117884986	2	4	275	1	0	0	0	0	0	0	0	1	6347	639	23	1		1	GFRA1	10	117884986	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1467121	117884986	17649761	735	141800											
EIF3A	8661	broad.mit.edu	37	chr10	120795603	120795603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctcatttttagtacgaCggagagattccctatctttc	7	10	2	1	rs143903271		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:120795603C>T	uc001ldu.2	-	22	4243	c.4097G>A	c.(4096-4098)CGT>CAT	p.R1366H	EIF3A_uc010qsu.1_Missense_Mutation_p.R1332H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1366					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTAGTACGACGGAGAGATTC	0.433													T	120795603	C	T	120795603	3	4	275	1	0	0	0	0	1	0	0	0	5012	536	19	1	55	1	EIF3A	10	120795603	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2910617	120795603	14739144	736	141801											
PLEKHA1	59338	broad.mit.edu	37	chr10	124152742	124152742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtggatcgtcagaatcGcatttgtggttttctagaca	10	6	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:124152742G>A	uc001lge.1	+	2	149	c.26G>A	c.(25-27)CGC>CAC	p.R9H	PLEKHA1_uc001lgf.1_Missense_Mutation_p.R9H|PLEKHA1_uc001lgg.1_Missense_Mutation_p.R9H|PLEKHA1_uc001lgh.2_Missense_Mutation_p.R9H	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	9	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGTCAGAATCGCATTTGTGGT	0.358													A	124152742	G	A	124152742	3	1	275	1	0	0	0	0	1	0	0	0	12055	1087	38	1	28	1	PLEKHA1	10	124152742	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3357139	124152742	11382005	737	141802											
C10orf90	118611	broad.mit.edu	37	chr10	128192609	128192609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgagttgtatggtcctttTccccttttcttacagtgact	7	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:128192609T>C	uc001ljq.2	-	3	1281	c.1160A>G	c.(1159-1161)GAA>GGA	p.E387G	C10orf90_uc001ljp.2_Missense_Mutation_p.E340G|C10orf90_uc010qum.1_Missense_Mutation_p.E484G|C10orf90_uc009yao.2_Missense_Mutation_p.E484G|C10orf90_uc001ljs.1_Missense_Mutation_p.E340G	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	387										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ATGGTCCTTTTCCCCTTTTCT	0.498											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	128192609	T	C	128192609	3	2	275	1	0	0	0	0	1	0	0	0	1623	1783	62	3	967	3	C10orf90	10	128192609	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	4039867	128192609	7342138	738	141803											
MKI67	4288	broad.mit.edu	37	chr10	129914169	129914169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtcttttgagtcatctGcggtactgtcttctttgaca	8	10	5	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:129914169G>A	uc001lke.2	-	7	698	c.503C>T	c.(502-504)GCA>GTA	p.A168V	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	168					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TGAGTCATCTGCGGTACTGTC	0.423													A	129914169	G	A	129914169	3	1	275	1	0	0	0	0	1	0	0	0	9598	1319	46	2	9303	2	MKI67	10	129914169	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1721560	129914169	5620578	739	141804											
MKI67	4288	broad.mit.edu	37	chr10	129921193	129921193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctccatgttttagccgtAcaggctcatcaataacagac	6	12	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:129921193A>G	uc001lke.2	-	4	434	c.239T>C	c.(238-240)GTA>GCA	p.V80A	MKI67_uc001lkf.2_Missense_Mutation_p.V80A|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	80					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TTTTAGCCGTACAGGCTCATC	0.353													G	129921193	A	G	129921193	3	3	275	1	0	0	0	0	1	0	0	0	9598	391	14	3	9579	3	MKI67	10	129921193	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	7024	129921193	5613554	740	141805											
KNDC1	85442	broad.mit.edu	37	chr10	134981025	134981025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagagcctgtgcatcacGcccgacaccctggccttcaa	8	17	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr10:134981025G>A	uc001llz.1	+	2	244	c.243G>A	c.(241-243)ACG>ACA	p.T81T	KNDC1_uc001lma.1_Silent_p.T16T	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	81	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		TGTGCATCACGCCCGACACCC	0.577													A	134981025	G	A	134981025	2	1	275	1	0	0	0	0	0	0	0	1	8426	1074	38	1		1	KNDC1	10	134981025	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5059832	134981025	553722	741	141806											
DEAF1	10522	broad.mit.edu	37	chr11	688355	688355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggggagctgccgggcCtttcagcccggtggtctcca	17	12	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:688355C>A	uc001lqq.1	-	3	1186	c.493G>T	c.(493-495)GGC>TGC	p.G165C	DEAF1_uc009ycf.1_5'Flank	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	165					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|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		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)		GCTGCCGGGCCTTTCAGCCCG	0.562													A	688355	C	A	688355	3	1	275	1	0	0	0	0	1	0	0	0	4380	681	24	5	1244	5	DEAF1	11	688355	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08		688355	134318161	742	141807											
MUC2	4583	broad.mit.edu	37	chr11	1090881	1090881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaacatctgttccattaCgacacgcccgtccaccctga	5	17	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:1090881C>T	uc001lsx.1	+	28	3803	c.3776C>T	c.(3775-3777)ACG>ATG	p.T1259M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1259						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	TGTTCCATTACGACACGCCCG	0.383													T	1090881	C	T	1090881	3	4	275	1	0	0	0	0	1	0	0	0	9975	536	19	1	3886	1	MUC2	11	1090881	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	402526	1090881	133915635	743	141808											
MUC5B	727897	broad.mit.edu	37	chr11	1267081	1267081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccactccagggacgaccTggatcctcacagagcagacc	9	17	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:1267081T>C	uc009ycr.1	+	49	10846	c.10720T>C	c.(10720-10722)TGG>CGG	p.W3574R	MUC5B_uc001ltb.2_Missense_Mutation_p.W2994R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2991	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		AGGGACGACCTGGATCCTCAC	0.637													C	1267081	T	C	1267081	3	2	275	1	0	0	0	0	1	0	0	0	9979	1580	55	3	9102	3	MUC5B	11	1267081	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	176200	1267081	133739435	744	141809											
CTSD	1509	broad.mit.edu	37	chr11	1774895	1774895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggtcttcccggcctgCgacacctgggacggccctgg	15	15	1	1	rs138940129	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:1774895C>T	uc001luc.1	-	9	1210	c.1077G>A	c.(1075-1077)TCG>TCA	p.S359S	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	359					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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)	TCCCGGCCTGCGACACCTGGG	0.711													T	1774895	C	T	1774895	2	4	275	1	0	0	0	0	0	0	0	1	4032	755	27	1		1	CTSD	11	1774895	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	507814	1774895	133231621	745	141810											
CHRNA10	57053	broad.mit.edu	37	chr11	3688473	3688473	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcaccgatgagcggcAcgctctcggccggtggcatg	15	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:3688473A>G	uc001lyf.2	-	4	956	c.884T>C	c.(883-885)GTG>GCG	p.V295A	CHRNA10_uc010qxt.1_Missense_Mutation_p.V89A|CHRNA10_uc010qxu.1_Missense_Mutation_p.V89A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	295					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		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)	GATGAGCGGCACGCTCTCGGC	0.736													G	3688473	A	G	3688473	3	3	275	1	0	0	0	0	1	0	0	0	3382	159	6	3	476	3	CHRNA10	11	3688473	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1913578	3688473	131318043	746	141811											
NUP98	4928	broad.mit.edu	37	chr11	3800453	3800453	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaaatgcagatgttccAaatgcccctccactagtagt	7	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:3800453A>C	uc001lyh.2	-	3	402	c.111T>G	c.(109-111)TTT>TTG	p.F37L	NUP98_uc001lyi.2_Missense_Mutation_p.F37L|NUP98_uc001lyj.1_Missense_Mutation_p.F37L|NUP98_uc001lyk.1_Missense_Mutation_p.F37L|NUP98_uc010qxv.1_Missense_Mutation_p.F37L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	37	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			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		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)		CAGATGTTCCAAATGCCCCTC	0.378			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								C	3800453	A	C	3800453	3	2	275	1	0	0	0	0	1	0	0	0	10773	127	5	5	5487	5	NUP98	11	3800453	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	111980	3800453	131206063	747	141812											
TRIM68	55128	broad.mit.edu	37	chr11	4622048	4622048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtatctggatccaagcGcacatcagctagaagaaaag	10	9	2	2	rs143401810	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:4622048G>A	uc001lzf.1	-	7	1154	c.916C>T	c.(916-918)CGC>TGC	p.R306C	TRIM68_uc001lzg.1_Missense_Mutation_p.R83C|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	306	B30.2/SPRY.				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			ovary(1)	1		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)		GGATCCAAGCGCACATCAGCT	0.488													A	4622048	G	A	4622048	3	1	275	1	0	0	0	0	1	0	0	0	16538	1087	38	1	545	1	TRIM68	11	4622048	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	821595	4622048	130384468	748	141813											
TRIM5	85363	broad.mit.edu	37	chr11	5701381	5701381	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtcacctcctccttTacattaaccaggattccaga	8	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:5701381T>C	uc001mbm.1	-	2	284	c.27A>G	c.(25-27)GTA>GTG	p.V9V	TRIM5_uc001mbq.1_Silent_p.V9V|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.V9V|TRIM5_uc001mbo.2_Silent_p.V9V|TRIM5_uc001mbp.2_Silent_p.V9V	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	9					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		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)		CCTCCTCCTTTACATTAACCA	0.557													C	5701381	T	C	5701381	2	2	275	1	0	0	0	0	0	0	0	1	16522	1741	61	3		3	TRIM5	11	5701381	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1079333	5701381	129305135	749	141814											
OR56A3	390083	broad.mit.edu	37	chr11	5968802	5968802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctccctgctggacatcGtgctctgcctcactgtcatc	7	17	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:5968802G>A	uc010qzt.1	+	1	226	c.226G>A	c.(226-228)GTG>ATG	p.V76M		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		GCTGGACATCGTGCTCTGCCT	0.587													A	5968802	G	A	5968802	3	1	275	1	0	0	0	0	1	0	0	0	11134	1145	40	1	228	1	OR56A3	11	5968802	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	267421	5968802	129037714	750	141815											
DNHD1	144132	broad.mit.edu	37	chr11	6592478	6592478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagtgatgtaccagagcGcgtcttccacctgtcagcct	11	13	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:6592478G>A	uc001mdw.3	+	42	14300	c.13736G>A	c.(13735-13737)CGC>CAC	p.R4579H	DNHD1_uc001mea.3_Missense_Mutation_p.R848H|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.R847H|DNHD1_uc010rao.1_Missense_Mutation_p.R837H|DNHD1_uc009yfg.2_Missense_Mutation_p.R204H	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4579					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		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)		GTACCAGAGCGCGTCTTCCAC	0.652													A	6592478	G	A	6592478	3	1	275	1	0	0	0	0	1	0	0	0	4668	1087	38	1	13903	1	DNHD1	11	6592478	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	623676	6592478	128414038	751	141816											
DCHS1	8642	broad.mit.edu	37	chr11	6648207	6648207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacaggagagcgggccacGcggatttcaccagtgtaaga	14	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:6648207G>A	uc001mem.1	-	14	6473	c.6063C>T	c.(6061-6063)CGC>CGT	p.R2021R		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2021	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGGCCACGCGGATTTCAC	0.582													A	6648207	G	A	6648207	2	1	275	1	0	0	0	0	0	0	0	1	4287	1074	38	1		1	DCHS1	11	6648207	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	55729	6648207	128358309	752	141817											
RIC3	79608	broad.mit.edu	37	chr11	8159021	8159021	+	Splice_Site	DEL	A	A	-													gagcaagctcaaaactggctAaaaaataagcaacaatctaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:8159020_8159020TA>T	uc010rbm.1	-	4	482	c.428_splice	c.e4-1	p.T143_splice	RIC3_uc001mgb.2_Splice_Site|RIC3_uc010rbl.1_Splice_Site_p.T93_splice|RIC3_uc001mgd.2_Splice_Site_p.T143_splice|RIC3_uc001mgc.2_Splice_Site_p.T143_splice|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	143						Golgi membrane|endoplasmic reticulum 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)		CAAAACTGGCTAAAAAATAAG	0.388													-	8159021	A	-	8159021	8	5	275	1	0	1	0	1	0	0	1	0	13354	377	13	0		0	RIC3	11	8159021	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	1510814	8159021	126847495	753	141818											
DENND5A	23258	broad.mit.edu	37	chr11	9171679	9171679	+	Frame_Shift_Del	DEL	T	T	-													tcaggtgtctggaaagtaacTttttttccatggacagtcgc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:9171678_9171678CT>C	uc001mhl.3	-	14	2942	c.2685_2685AG>G	c.(2683-2685)aagfs	p.K895fs	DENND5A_uc001mhk.3_Frame_Shift_Del_p.K238fs|DENND5A_uc010rbw.2_Frame_Shift_Del_p.K895fs|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	895	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						TGGAAAGTAACTTTTTTTCCA	0.517													-	9171679	T	-	9171679	7	5	275	1	0	1	0	1	0	0	0	0	4436	1609	56	0	1215	0	DENND5A	11	9171679	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1012658	9171679	125834837	754	141819											
ARNTL	406	broad.mit.edu	37	chr11	13398205	13398205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccaacgtcctggaaggCggggacccaaccttcccaca	11	15	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:13398205C>T	uc001mkr.2	+	16	1752	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	ARNTL_uc001mko.2_Silent_p.G404G|ARNTL_uc001mkp.2_Silent_p.G447G|ARNTL_uc001mkq.2_Silent_p.G447G|ARNTL_uc001mks.2_Silent_p.G405G|ARNTL_uc001mkt.2_Silent_p.G448G|ARNTL_uc001mku.2_RNA|ARNTL_uc001mkw.2_Silent_p.G405G|ARNTL_uc001mkx.2_Silent_p.G446G|ARNTL_uc001mky.2_5'UTR	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	448					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				0				Epithelial(150;0.0243)		TCCTGGAAGGCGGGGACCCAA	0.587													T	13398205	C	T	13398205	2	4	275	1	0	0	0	0	0	0	0	1	967	755	27	1		1	ARNTL	11	13398205	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4226526	13398205	121608311	755	141820											
COPB1	1315	broad.mit.edu	37	chr11	14502625	14502625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgctcaatactcttaGgatatccataaccagatcct	7	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:14502625G>A	uc001mli.2	-	9	1283	c.976C>T	c.(976-978)CTA>TTA	p.L326L	COPB1_uc001mlg.2_Silent_p.L326L|COPB1_uc001mlh.2_Silent_p.L326L	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	326	HEAT 5.				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			ovary(1)|central_nervous_system(1)	2						AATACTCTTAGGATATCCATA	0.368													A	14502625	G	A	14502625	2	1	275	1	0	0	0	0	0	0	0	1	3728	991	35	4		4	COPB1	11	14502625	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1104420	14502625	120503891	756	141821											
INSC	387755	broad.mit.edu	37	chr11	15170767	15170767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggactccgtcaccctgcCgggtcagcggtaagtcctac	11	16	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:15170767C>A	uc001mly.2	+	2	234	c.188C>A	c.(187-189)CCG>CAG	p.P63Q	INSC_uc001mlz.2_Missense_Mutation_p.P16Q|INSC_uc001mma.2_Missense_Mutation_p.P16Q|INSC_uc010rcs.1_Missense_Mutation_p.P16Q|INSC_uc001mmb.2_Missense_Mutation_p.P16Q|INSC_uc001mmc.2_Missense_Mutation_p.P16Q	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	63					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						GTCACCCTGCCGGGTCAGCGG	0.607													A	15170767	C	A	15170767	3	1	275	1	0	0	0	0	1	0	0	0	7764	652	23	5	194	5	INSC	11	15170767	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	668142	15170767	119835749	757	141822											
ABCC8	6833	broad.mit.edu	37	chr11	17482094	17482094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatcccaaagatgcacaGtggcccggcgaagcccagca	11	15	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:17482094G>A	uc001mnc.2	-	6	1078	c.952C>T	c.(952-954)CTG>TTG	p.L318L	ABCC8_uc010rcy.1_Silent_p.L317L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	318	Helical; Name=6; (By similarity).|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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAGATGCACAGTGGCCCGGCG	0.642													A	17482094	G	A	17482094	2	1	275	1	0	0	0	0	0	0	0	1	58	1020	36	4		4	ABCC8	11	17482094	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2311327	17482094	117524422	758	141823											
MRGPRX4	117196	broad.mit.edu	37	chr11	18194924	18194924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcatcatttcccttgtcGgactgacaggaaacgcggtt	11	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:18194924G>A	uc001mnv.1	+	1	541	c.121G>A	c.(121-123)GGA>AGA	p.G41R		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	41	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						TTCCCTTGTCGGACTGACAGG	0.557													A	18194924	G	A	18194924	3	1	275	1	0	0	0	0	1	0	0	0	9769	1117	39	1	123	1	MRGPRX4	11	18194924	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	712830	18194924	116811592	759	141824											
E2F8	79733	broad.mit.edu	37	chr11	19256571	19256571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgtaaactctctaggacGttcacgatatcgtaaatgcg	8	8	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:19256571G>A	uc001mpm.2	-	5	1008	c.486C>T	c.(484-486)AAC>AAT	p.N162N	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.N162N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	162	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCTCTAGGACGTTCACGATAT	0.428													A	19256571	G	A	19256571	2	1	275	1	0	0	0	0	0	0	0	1	4873	1136	40	1		1	E2F8	11	19256571	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1061647	19256571	115749945	760	141825											
KCNA4	3739	broad.mit.edu	37	chr11	30032940	30032940	+	Frame_Shift_Del	DEL	C	C	-													gctgctgctgaccattgccaCccccctgttgctgggccagg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:30032939_30032939AC>A	uc021qfi.1	-	0	1287	c.1287_1287GT>T	c.(1285-1287)ggtfs	p.G429fs	KCNA4_uc001msk.3_Frame_Shift_Del_p.G429fs	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	429						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G429fs*53(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACCATTGCCACCCCCCTGTT	0.498													-	30032940	C	-	30032940	7	5	275	1	0	1	0	1	0	0	0	0	8005	507	18	0	679	0	KCNA4	11	30032940	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	10776369	30032940	104973576	761	141826											
QSER1	79832	broad.mit.edu	37	chr11	32956281	32956281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatttaccttagggggtgaCgacagtggtgtgtcaatgaa	14	5	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:32956281C>T	uc001mty.2	+	4	3357	c.3090C>T	c.(3088-3090)GAC>GAT	p.D1030D	QSER1_uc001mtz.1_Silent_p.D791D|QSER1_uc001mua.2_Silent_p.D535D	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1030										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TAGGGGGTGACGACAGTGGTG	0.433													T	32956281	C	T	32956281	2	4	275	1	0	0	0	0	0	0	0	1	12882	535	19	1		1	QSER1	11	32956281	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2923341	32956281	102050235	762	141827											
TCP11L1	55346	broad.mit.edu	37	chr11	33087372	33087375	+	Splice_Site	DEL	ACAG	ACAG	-													gatggcctcttctattcattAcagacagttttaatggacca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:33087371_33087374TACAG>T	uc001mud.3	+	8	1373	c.973_splice	c.e8-2	p.T325_splice	TCP11L1_uc009yju.3_Splice_Site_p.T140_splice|TCP11L1_uc010rei.2_Splice_Site_p.T325_splice|TCP11L1_uc001mue.3_Splice_Site_p.T325_splice|TCP11L1_uc001muf.1_Splice_Site	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	325										kidney(1)|liver(2)|lung(2)|skin(1)	6						TTCTATTCATTACAGACAGTTTTA	0.593											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	33087375	ACAG	-	33087372	8	5	275	1	0	1	0	1	0	0	1	0	15711	406	14	0		0	TCP11L1	11	33087372	Splice_Site	DEL	ACAG	TCGA-HU-A4GX-01A-12D-A25D-08	131091	33087372	101919144	763	141828											
C11orf41	25758	broad.mit.edu	37	chr11	33565125	33565125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaacaggtgagagcatcGccctcctccatggatgtata	9	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:33565125G>A	uc001mup.3	+	1	1249	c.1125G>A	c.(1123-1125)TCG>TCA	p.S375S	C11orf41_uc001mun.1_Silent_p.S375S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	375						integral to membrane				ovary(2)	2						TGAGAGCATCGCCCTCCTCCA	0.483											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33565125	G	A	33565125	2	1	275	1	0	0	0	0	0	0	0	1	1640	1074	38	1		1	C11orf41	11	33565125	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	477753	33565125	101441391	764	141829											
DGKZ	8525	broad.mit.edu	37	chr11	46394213	46394213	+	Frame_Shift_Del	DEL	G	G	-													acctgcggatcctggcgtgcGggggcgacggcacggtgagc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:46394212_46394212CG>C	uc001ncn.1	+	12	1745	c.1620_1620CG>C	c.(1618-1620)tgcfs	p.C540fs	DGKZ_uc001nch.2_Frame_Shift_Del_p.C368fs|DGKZ_uc010rgq.2_Frame_Shift_Del_p.C334fs|DGKZ_uc010rgr.2_Frame_Shift_Del_p.C356fs|DGKZ_uc001ncj.2_Frame_Shift_Del_p.C318fs|DGKZ_uc001nck.2_Frame_Shift_Del_p.C130fs|DGKZ_uc001ncm.2_Frame_Shift_Del_p.C351fs|DGKZ_uc001ncl.2_Frame_Shift_Del_p.C352fs|DGKZ_uc009yky.1_Frame_Shift_Del_p.C352fs|DGKZ_uc010rgs.1_Frame_Shift_Del_p.C329fs	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	540	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 C-terminus binding|protein 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)		TCCTGGCGTGCGGGGGCGACG	0.662													-	46394213	G	-	46394213	7	5	275	1	0	1	0	1	0	0	0	0	4474	1116	39	0	2114	0	DGKZ	11	46394213	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	12829088	46394213	88612303	765	141830											
MYBPC3	4607	broad.mit.edu	37	chr11	47357492	47357492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccacgcgctctgggggCcgccacttgagggagaccgt	15	15	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47357492C>T	uc001nfa.3	-	25	2728	c.2673G>A	c.(2671-2673)CGG>CGA	p.R891R	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	890	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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GCTCTGGGGGCCGCCACTTGA	0.677													T	47357492	C	T	47357492	2	4	275	1	0	0	0	0	0	0	0	1	10013	726	26	2		2	MYBPC3	11	47357492	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	963279	47357492	87649024	766	141831											
MYBPC3	4607	broad.mit.edu	37	chr11	47364636	47364636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggtaggctgcgtcgtcCgccaatgagcactggctgat	13	12	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47364636C>T	uc001nfa.3	-	14	1342	c.1287G>A	c.(1285-1287)GCG>GCA	p.A429A	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	428	Ig-like C2-type 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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CTGCGTCGTCCGCCAATGAGC	0.617													T	47364636	C	T	47364636	2	4	275	1	0	0	0	0	0	0	0	1	10013	639	23	1		1	MYBPC3	11	47364636	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	7144	47364636	87641880	767	141832											
MYBPC3	4607	broad.mit.edu	37	chr11	47365114	47365114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggtcagccagttccacGgtcagccggatcttgtggcc	12	13	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47365114G>A	uc001nfa.3	-	13	1207	c.1152C>T	c.(1150-1152)ACC>ACT	p.T384T	MYBPC3_uc010rhl.1_5'Flank	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	384	Ig-like C2-type 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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CCAGTTCCACGGTCAGCCGGA	0.652													A	47365114	G	A	47365114	2	1	275	1	0	0	0	0	0	0	0	1	10013	1103	39	1		1	MYBPC3	11	47365114	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	478	47365114	87641402	768	141833											
AGBL2	79841	broad.mit.edu	37	chr11	47681799	47681799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgtggcaggatatcTgctcctaggccagtttggct	11	10	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:47681799T>C	uc001ngg.2	-	18	2735	c.2635A>G	c.(2635-2637)AGA>GGA	p.R879G	AGBL2_uc001ngf.2_RNA	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	879					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GCAGGATATCTGCTCCTAGGC	0.522													C	47681799	T	C	47681799	3	2	275	1	0	0	0	0	1	0	0	0	376	1588	55	3	77	3	AGBL2	11	47681799	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	316685	47681799	87324717	769	141834											
OR8H1	219469	broad.mit.edu	37	chr11	56057917	56057917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatattgtgataagggacaCcatcagggtggaaccagcta	12	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:56057917C>T	uc010rje.1	-	1	622	c.622G>A	c.(622-624)GTG>ATG	p.V208M		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					ATAAGGGACACCATCAGGGTG	0.418													T	56057917	C	T	56057917	3	4	275	1	0	0	0	0	1	0	0	0	11237	507	18	4	315	4	OR8H1	11	56057917	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	8376118	56057917	78948599	770	141835											
OR5M1	390168	broad.mit.edu	37	chr11	56380954	56380954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagaatgaattctgtcaCtatggtgtggtttggggaga	14	4	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:56380954C>T	uc001nja.1	-	1	25	c.25G>A	c.(25-27)GTG>ATG	p.V9M		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AATTCTGTCACTATGGTGTGG	0.428													T	56380954	C	T	56380954	3	4	275	1	0	0	0	0	1	0	0	0	11172	565	20	4	926	4	OR5M1	11	56380954	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	323037	56380954	78625562	771	141836											
OR5B12	390191	broad.mit.edu	37	chr11	58207240	58207240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatggtggtggtgtaatGcaggggtttacacaatgctg	15	5	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:58207240G>A	uc010rkh.1	-	1	385	c.385C>T	c.(385-387)CAT>TAT	p.H129Y		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGGTGTAATGCAGGGGTTTA	0.458													A	58207240	G	A	58207240	3	1	275	1	0	0	0	0	1	0	0	0	11148	1319	46	2	563	2	OR5B12	11	58207240	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1826286	58207240	76799276	772	141837											
TMEM132A	54972	broad.mit.edu	37	chr11	60703479	60703479	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggagcagggtgcccagctCggggtggtggtgagtggggc	23	7	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:60703479C>T	uc001nqj.2	+	11	2365	c.2172C>T	c.(2170-2172)CTC>CTT	p.L724L	TMEM132A_uc001nqi.2_Silent_p.L725L|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	724	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GTGCCCAGCTCGGGGTGGTGG	0.731													T	60703479	C	T	60703479	2	4	275	1	0	0	0	0	0	0	0	1	16042	871	31	1		1	TMEM132A	11	60703479	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2496239	60703479	74303037	773	141838											
CD6	923	broad.mit.edu	37	chr11	60777348	60777348	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagggtcctctgctcaggTaccccatcctactccacccc	7	20	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:60777348T>C	uc001nqq.2	+	5	1307	c.1084_splice	c.e5+2	p.A362_splice	CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Splice_Site_p.A362_splice|CD6_uc001nqr.2_Splice_Site_p.A362_splice|CD6_uc001nqs.2_Splice_Site|CD6_uc001nqt.2_Splice_Site_p.A362_splice	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor						cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TCTGCTCAGGTACCCCATCCT	0.557													C	60777348	T	C	60777348	5	2	275	1	0	0	0	0	0	0	1	0	3028	1652	57	3	1104	3	CD6	11	60777348	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	73869	60777348	74229168	774	141839											
CD5	921	broad.mit.edu	37	chr11	60892565	60892565	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgagaaccccacagcctcCcacgtggataacgaatacag	9	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:60892565C>A	uc009ynk.2	+	9	1444	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	447	Cytoplasmic (Potential).				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCACAGCCTCCCACGTGGATA	0.597													A	60892565	C	A	60892565	2	1	275	1	0	0	0	0	0	0	0	1	3021	610	22	5		5	CD5	11	60892565	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	115217	60892565	74113951	775	141840											
DAK	26007	broad.mit.edu	37	chr11	61112761	61112761	+	Frame_Shift_Del	DEL	C	C	-													agtggctgaaggagggcccaCcccctgccagccctgcccag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:61112760_61112760AC>A	uc001nre.3	+	13	1526	c.1269_1269AC>A	c.(1267-1269)ccafs	p.P423fs	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Frame_Shift_Del_p.P353fs	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	423	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						AGGAGGGCCCACCCCCTGCCA	0.627													-	61112761	C	-	61112761	7	5	275	1	0	1	0	1	0	0	0	0	4228	507	18	0	1320	0	DAK	11	61112761	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	220196	61112761	73893755	776	141841											
EML3	256364	broad.mit.edu	37	chr11	62378802	62378802	+	Frame_Shift_Del	DEL	G	G	-													tgcacgtgggtggcagtcctGggggggctgcaagactgctg					rs11553576	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:62378801_62378801TG>T	uc010rly.1	-	2	518	c.210_210CA>A	c.(208-210)ccafs	p.P70fs	EML3_uc001ntr.1_Frame_Shift_Del_p.P42fs|EML3_uc001nts.1_Frame_Shift_Del_p.P42fs|EML3_uc001ntt.1_5'UTR|EML3_uc001ntu.1_Frame_Shift_Del_p.P70fs|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	70						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						GTGGCAGTCCTGGGGGGGCTG	0.602													-	62378802	G	-	62378802	7	5	275	1	0	1	0	1	0	0	0	0	5098	1348	47	0	2561	0	EML3	11	62378802	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1266041	62378802	72627714	777	141842											
CHRM1	1128	broad.mit.edu	37	chr11	62677864	62677864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgagctgctgctgcTgccaccccctttgcctggcg	10	18	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:62677864T>C	uc001nwi.2	-	2	1110	c.709A>G	c.(709-711)AGC>GGC	p.S237G		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	237	Cytoplasmic (Potential).				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				0					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)	CTGCTGCTGCTGCCACCCCCT	0.677													C	62677864	T	C	62677864	3	2	275	1	0	0	0	0	1	0	0	0	3376	1580	55	3	677	3	CHRM1	11	62677864	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	299062	62677864	72328652	778	141843											
SLC22A8	9376	broad.mit.edu	37	chr11	62760719	62760719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgttgtcctcagctggagCccaggcctggtccgtgaggc	14	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:62760719C>T	uc001nwo.2	-	11	1755	c.1619G>A	c.(1618-1620)GGC>GAC	p.G540D	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.G417D|SLC22A8_uc010rmm.1_Missense_Mutation_p.G449D|SLC22A8_uc009yon.2_Missense_Mutation_p.G540D	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	540	Extracellular (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						TCAGCTGGAGCCCAGGCCTGG	0.602													T	62760719	C	T	62760719	3	4	275	1	0	0	0	0	1	0	0	0	14460	739	26	2	13	2	SLC22A8	11	62760719	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	82855	62760719	72245797	779	141844											
PLA2G16	11145	broad.mit.edu	37	chr11	63357702	63357702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattttgctgcagggcagcGgcgagtacttgtcatcatgt	13	8	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:63357702G>A	uc001nxh.2	-	3	680	c.257C>T	c.(256-258)CCG>CTG	p.P86L	PLA2G16_uc001nxi.2_Missense_Mutation_p.P98L|PLA2G16_uc009you.1_Missense_Mutation_p.P86L	NM_007069	NP_009000	P53816	PAG16_HUMAN	HRAS-like suppressor 3	86					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			ovary(1)	1						GCAGGGCAGCGGCGAGTACTT	0.547													A	63357702	G	A	63357702	3	1	275	1	0	0	0	0	1	0	0	0	11993	1116	39	1	239	1	PLA2G16	11	63357702	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	596983	63357702	71648814	780	141845											
FLRT1	23769	broad.mit.edu	37	chr11	63883777	63883777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgccactgccaccaccaCgcccactgccactgtcacgg	7	22	1	0	rs139768227	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:63883777C>T	uc001nyi.1	+	2	379	c.38C>T	c.(37-39)ACG>ATG	p.T13M	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	Error:Variant_position_missing_in_Q9NZU1_after_alignment					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						gccaccaccacgcccactgcc	0.418													T	63883777	C	T	63883777	3	4	275	1	0	0	0	0	1	0	0	0	5938	536	19	1	40	1	FLRT1	11	63883777	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	526075	63883777	71122739	781	141846											
SLC22A12	116085	broad.mit.edu	37	chr11	64367173	64367173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttggcttcaccttcttcGgcctggccctggacctgcag	10	16	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:64367173G>A	uc001oam.1	+	7	1843	c.1096G>A	c.(1096-1098)GGC>AGC	p.G366S	SLC22A12_uc001oal.1_Missense_Mutation_p.G145S|SLC22A12_uc009yps.1_Missense_Mutation_p.G332S|SLC22A12_uc001oan.1_Missense_Mutation_p.G258S|SLC22A12_uc009ypt.2_Missense_Mutation_p.G184S	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	366	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CACCTTCTTCGGCCTGGCCCT	0.383													A	64367173	G	A	64367173	3	1	275	1	0	0	0	0	1	0	0	0	14443	1116	39	1	1122	1	SLC22A12	11	64367173	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	483396	64367173	70639343	782	141847											
NAALADL1	10004	broad.mit.edu	37	chr11	64821729	64821729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcatctcacctgtctgCtgggaagtctccgtcaggcc	12	14	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:64821729C>A	uc001ocn.2	-	6	1001	c.985G>T	c.(985-987)GCA>TCA	p.A329S	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	329	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						CACCTGTCTGCTGGGAAGTCT	0.612													A	64821729	C	A	64821729	3	1	275	1	0	0	0	0	1	0	0	0	10129	797	28	5	1289	5	NAALADL1	11	64821729	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	454556	64821729	70184787	783	141848											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088586	65088586	+	Frame_Shift_Del	DEL	C	C	-													cggggaccatggtggaggggCctgaagaagatggcaccttc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65088585_65088585GC>G	uc021qli.1	+	0	216	c.216_216GC>G	c.(214-216)gggfs	p.G72fs	CDC42EP2_uc001odl.3_Frame_Shift_Del_p.G72fs	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	72					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						TGGTGGAGGGGCCTGAAGAAG	0.632													-	65088586	C	-	65088586	7	5	275	1	0	1	0	1	0	0	0	0	3076	739	26	0	219	0	CDC42EP2	11	65088586	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	266857	65088586	69917930	784	141849											
TIGD3	220359	broad.mit.edu	37	chr11	65123482	65123482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcacagccaaccgagagcGcaagcgcaagcgggagtcca	14	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65123482G>A	uc001odo.3	+	2	366	c.203G>A	c.(202-204)CGC>CAC	p.R68H		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	68	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AACCGAGAGCGCAAGCGCAAG	0.652													A	65123482	G	A	65123482	3	1	275	1	0	0	0	0	1	0	0	0	15894	1087	38	1	205	1	TIGD3	11	65123482	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	34896	65123482	69883034	785	141850											
LTBP3	4054	broad.mit.edu	37	chr11	65314283	65314284	+	Frame_Shift_Ins	INS	-	-	C													ctcaccgcgacaggccccgcINSccccctggctgcggtagcca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65314282_65314283G>GC	uc001oej.3	-	14	2485_2486	c.2216_2217C>GC	c.(2215-2217)ggcfs	p.G739fs	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Frame_Shift_Ins_p.G169fs|LTBP3_uc010roi.2_Frame_Shift_Ins_p.G622fs|LTBP3_uc001oei.3_Frame_Shift_Ins_p.G739fs|LTBP3_uc010roj.2_Frame_Shift_Ins_p.G440fs|LTBP3_uc010rok.1_Frame_Shift_Ins_p.G650fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	739	Cys-rich.					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						GACAGGCCCCGCCCCCCTGGCT	0.728													C	65314284	-	C	65314283	7	5	275	1	0	1	1	0	0	0	0	0	9075	739	26	0	1751	0	LTBP3	11	65314283	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	190801	65314283	69692233	786	141851											
KCNK7	10089	broad.mit.edu	37	chr11	65361010	65361010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggccgcggccgggcaGcaagtcctccaggccaatgg	16	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65361010G>A	uc001oes.2	-	2	879	c.655C>T	c.(655-657)CTG>TTG	p.L219L	KCNK7_uc001oeq.2_Silent_p.L219L|KCNK7_uc001oer.2_Silent_p.L219L|KCNK7_uc001oeu.2_Silent_p.L219L	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	219						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CGGCCGGGCAGCAAGTCCTCC	0.667													A	65361010	G	A	65361010	2	1	275	1	0	0	0	0	0	0	0	1	8071	962	34	2		2	KCNK7	11	65361010	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	46727	65361010	69645506	787	141852											
PCNXL3	399909	broad.mit.edu	37	chr11	65403961	65403961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccacctctgctgcagtggcCtccccctcggctccctggac	9	21	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:65403961C>A	uc001oey.2	+	34	5693	c.5693C>A	c.(5692-5694)CCT>CAT	p.P1898H	PCNXL3_uc001oez.2_Missense_Mutation_p.P785H	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1898	Gly-rich.					integral to membrane					0						CTGCAGTGGCCTCCCCCTCGG	0.721													A	65403961	C	A	65403961	3	1	275	1	0	0	0	0	1	0	0	0	11593	681	24	5	5827	5	PCNXL3	11	65403961	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	42951	65403961	69602555	788	141853											
KLC2	64837	broad.mit.edu	37	chr11	66033664	66033664	+	Frame_Shift_Del	DEL	C	C	-													aaagaagctgcaggggggcaCcccccaggagccccctaacc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:66033663_66033663AC>A	uc010rov.1	+	13	1945	c.1702_1702AC>A	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Del_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Del_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGA	0.652													-	66033664	C	-	66033664	7	5	275	1	0	1	0	1	0	0	0	0	8334	507	18	0	1753	0	KLC2	11	66033664	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	629703	66033664	68972852	789	141854											
ACTN3	89	broad.mit.edu	37	chr11	66325170	66325170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgcctggccctgtcagCtgctggagtggatccgccgc	13	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:66325170C>T	uc001oio.1	+	10	916	c.898C>T	c.(898-900)CTG>TTG	p.L300L	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	300	Spectrin 1.				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				0						GCCCTGTCAGCTGCTGGAGTG	0.642													T	66325170	C	T	66325170	2	4	275	1	0	0	0	0	0	0	0	1	206	811	28	2		2	ACTN3	11	66325170	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	291506	66325170	68681346	790	141855											
SPTBN2	6712	broad.mit.edu	37	chr11	66483313	66483313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaccagtatctctccCgagagcacctcgaggagcct	9	16	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:66483313C>T	uc001ojd.2	-	3	369	c.297G>A	c.(295-297)TCG>TCA	p.S99S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	99	CH 1.|Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTATCTCTCCCGAGAGCACCT	0.627													T	66483313	C	T	66483313	2	4	275	1	0	0	0	0	0	0	0	1	15119	639	23	1		1	SPTBN2	11	66483313	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	158143	66483313	68523203	791	141856											
CABP2	51475	broad.mit.edu	37	chr11	67287382	67287382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccggagctcgcccacGctgatgcggccgtccccatt	12	19	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:67287382G>A	uc001omc.1	-	6	621	c.519C>T	c.(517-519)AGC>AGT	p.S173S	CABP2_uc001omd.1_Silent_p.S116S|CABP2_uc001ome.1_Silent_p.S179S	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	173	EF-hand 3.|2 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						GCTCGCCCACGCTGATGCGGC	0.677													A	67287382	G	A	67287382	2	1	275	1	0	0	0	0	0	0	0	1	2532	1078	38	1		1	CABP2	11	67287382	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	804069	67287382	67719134	792	141857											
LRP5	4041	broad.mit.edu	37	chr11	68181349	68181349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgttccactcctcccGccaggatggcctcaatgact	9	16	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:68181349G>A	uc001ont.2	+	12	2771	c.2696G>A	c.(2695-2697)CGC>CAC	p.R899H	LRP5_uc009ysg.2_Missense_Mutation_p.R309H	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	899	Beta-propeller 3.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CACTCCTCCCGCCAGGATGGC	0.642													A	68181349	G	A	68181349	3	1	275	1	0	0	0	0	1	0	0	0	8960	1087	38	1	2742	1	LRP5	11	68181349	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	893967	68181349	66825167	793	141858											
MTL5	9633	broad.mit.edu	37	chr11	68483408	68483408	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaagcagtcacagtacCtgtgaaggaaaggacagagt	13	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:68483408C>A	uc001ooc.2	-	7	1058	c.918_splice	c.e7-1	p.G306_splice		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform						cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCACAGTACCTGTGAAGGAA	0.463													A	68483408	C	A	68483408	5	1	275	1	0	0	0	0	0	0	1	0	9936	695	24	5	625	5	MTL5	11	68483408	Splice_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	302059	68483408	66523108	794	141859											
NADSYN1	55191	broad.mit.edu	37	chr11	71183524	71183524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtactttctgcctcggaTgatacaggacctgacaaagc	11	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:71183524T>C	uc001oqn.2	+	6	563	c.437T>C	c.(436-438)ATG>ACG	p.M146T	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	146	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			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGCCTCGGATGATACAGGAC	0.552													C	71183524	T	C	71183524	3	2	275	1	0	0	0	0	1	0	0	0	10138	1464	51	3	459	3	NADSYN1	11	71183524	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2700116	71183524	63822992	795	141860											
MRPL48	51642	broad.mit.edu	37	chr11	73570971	73570971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatgcaatgccaaccaaaAccatagaagtgttgcagttg	9	8	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:73570971A>G	uc001ouh.3	+	6	491	c.391A>G	c.(391-393)ACC>GCC	p.T131A	MRPL48_uc009ytt.2_Missense_Mutation_p.T32A|MRPL48_uc010rri.1_Missense_Mutation_p.T113A|MRPL48_uc009ytu.2_Missense_Mutation_p.T32A	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48 precursor	131					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						GCCAACCAAAACCATAGAAGT	0.493													G	73570971	A	G	73570971	3	3	275	1	0	0	0	0	1	0	0	0	9812	43	2	3	413	3	MRPL48	11	73570971	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2387447	73570971	61435545	796	141861											
C2CD3	26005	broad.mit.edu	37	chr11	73785543	73785543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccatggagtccagctcaTgagtgggctcaaggtgtgag	15	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:73785543T>C	uc001ouu.2	-	24	4933	c.4706A>G	c.(4705-4707)CAT>CGT	p.H1569R	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1569						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTCCAGCTCATGAGTGGGCTC	0.537													C	73785543	T	C	73785543	3	2	275	1	0	0	0	0	1	0	0	0	2154	1464	51	3	1217	3	C2CD3	11	73785543	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	214572	73785543	61220973	797	141862											
KLHL35	283212	broad.mit.edu	37	chr11	75139513	75139513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtagacgtcattgcggagaGcacaggcggcgaattctgag	15	9	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:75139513G>A	uc001owm.1	-	2	599	c.380C>T	c.(379-381)GCT>GTT	p.A127V		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	kelch-like 35	127	Kelch 1.										0						ATTGCGGAGAGCACAGGCGGC	0.637													A	75139513	G	A	75139513	3	1	275	1	0	0	0	0	1	0	0	0	8388	971	34	2	731	2	KLHL35	11	75139513	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1353970	75139513	59867003	798	141863											
CAPN5	726	broad.mit.edu	37	chr11	76831954	76831954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtgccctccaactgcCggtacttgggggctggcttg	14	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:76831954C>T	uc001oxx.2	+	10	1671	c.1486C>T	c.(1486-1488)CGG>TGG	p.R496W	CAPN5_uc009yup.2_Missense_Mutation_p.R536W|CAPN5_uc009yuq.2_Missense_Mutation_p.R532W|CAPN5_uc001oxy.2_Missense_Mutation_p.R536W|CAPN5_uc001oya.2_Missense_Mutation_p.R58W	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	496	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CTCCAACTGCCGGTACTTGGG	0.617													T	76831954	C	T	76831954	3	4	275	1	0	0	0	0	1	0	0	0	2629	666	23	1	1520	1	CAPN5	11	76831954	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1692441	76831954	58174562	799	141864											
MYO7A	4647	broad.mit.edu	37	chr11	76910654	76910654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactcaggctgggcaggacTgaccccggcggggccctgtt	15	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:76910654T>C	uc001oyb.2	+	35	4915	c.4643T>C	c.(4642-4644)CTG>CCG	p.L1548P	MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1548	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			ovary(3)|breast(1)	4						TGGGCAGGACTGACCCCGGCG	0.637													C	76910654	T	C	76910654	3	2	275	1	0	0	0	0	1	0	0	0	10082	1580	55	3	4811	3	MYO7A	11	76910654	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	78700	76910654	58095862	800	141865											
RSF1	51773	broad.mit.edu	37	chr11	77413116	77413116	+	Frame_Shift_Del	DEL	T	T	-													tcactcagtttaatttctcgTttttttagtggtatcttggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:77413115_77413115GT>G	uc001oyn.3	-	5	1279	c.1159_1159AC>C	c.(1159-1161)cgafs	p.R387fs	RSF1_uc001oym.3_Frame_Shift_Del_p.R135fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	387					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)			TTAATTTCTCGTTTTTTTAGT	0.338													-	77413116	T	-	77413116	7	5	275	1	0	1	0	1	0	0	0	0	13699	1722	60	0	3211	0	RSF1	11	77413116	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	502462	77413116	57593400	801	141866											
KCTD21	283219	broad.mit.edu	37	chr11	77885584	77885584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccccccgacgttcagcGtgatggggtcggacatggca	14	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:77885584G>A	uc001ozb.2	-	2	92	c.17C>T	c.(16-18)ACG>ATG	p.T6M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	6	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	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;1.46e-24)			GACGTTCAGCGTGATGGGGTC	0.552													A	77885584	G	A	77885584	3	1	275	1	0	0	0	0	1	0	0	0	8109	1145	40	1	769	1	KCTD21	11	77885584	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	472468	77885584	57120932	802	141867											
ODZ4	26011	broad.mit.edu	37	chr11	78380838	78380838	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagtggtattggcgtagggTcctaccttcagctccttctt	11	11	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:78380838T>C	uc001ozl.3	-	32	7015	c.6552A>G	c.(6550-6552)GGA>GGG	p.G2184G	ODZ4_uc001ozk.3_Silent_p.G409G|ODZ4_uc009yvb.1_Silent_p.G768G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2184	YD 17.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TGGCGTAGGGTCCTACCTTCA	0.522													C	78380838	T	C	78380838	2	2	275	1	0	0	0	0	0	0	0	1	10837	1654	58	3		3	ODZ4	11	78380838	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	495254	78380838	56625678	803	141868											
EED	8726	broad.mit.edu	37	chr11	85963259	85963259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggagatccattagtgTttgcaactgtaggaagcaac	11	6	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:85963259T>C	uc001pbp.2	+	3	794	c.337T>C	c.(337-339)TTT>CTT	p.F113L	EED_uc010rtm.1_Missense_Mutation_p.F113L|EED_uc001pbq.2_Missense_Mutation_p.F113L|EED_uc001pbr.2_Missense_Mutation_p.F113L|EED_uc001pbs.2_Missense_Mutation_p.F113L	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	113	Interaction with EZH2 (By similarity).|WD 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TCCATTAGTGTTTGCAACTGT	0.328													C	85963259	T	C	85963259	3	2	275	1	0	0	0	0	1	0	0	0	4922	1725	60	3	347	3	EED	11	85963259	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	7582421	85963259	49043257	804	141869											
TYR	7299	broad.mit.edu	37	chr11	88911805	88911805	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccagaagctgacaggagaTgaaaacttcactattccata	7	9	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:88911805T>C	uc001pcs.2	+	1	766	c.684T>C	c.(682-684)GAT>GAC	p.D228D		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	228	Lumenal, melanosome (Potential).				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			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGACAGGAGATGAAAACTTCA	0.468									Oculocutaneous_Albinism				C	88911805	T	C	88911805	2	2	275	1	0	0	0	0	0	0	0	1	16810	1461	51	3		3	TYR	11	88911805	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2948546	88911805	46094711	805	141870											
ANGPTL5	253935	broad.mit.edu	37	chr11	101775632	101775632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaactctattcatgagctCgttaacctaaacacatgcat	6	10	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:101775632C>T	uc001pgl.2	-	5	948	c.352G>A	c.(352-354)GAG>AAG	p.E118K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	118	Potential.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTCATGAGCTCGTTAACCTAA	0.373													T	101775632	C	T	101775632	3	4	275	1	0	0	0	0	1	0	0	0	617	893	31	1	834	1	ANGPTL5	11	101775632	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	12863827	101775632	33230884	806	141871											
KIAA1377	57562	broad.mit.edu	37	chr11	101834251	101834251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccagtaactcctgaaaatCctcaaaacattattacacat	2	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:101834251C>T	uc001pgm.2	+	6	2755	c.2485C>T	c.(2485-2487)CCT>TCT	p.P829S	KIAA1377_uc001pgn.2_Missense_Mutation_p.P785S|KIAA1377_uc010run.1_Missense_Mutation_p.P630S|KIAA1377_uc009yxa.1_Missense_Mutation_p.P630S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	829							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCTGAAAATCCTCAAAACAT	0.338													T	101834251	C	T	101834251	3	4	275	1	0	0	0	0	1	0	0	0	8227	855	30	4	2507	4	KIAA1377	11	101834251	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	58619	101834251	33172265	807	141872											
DRD2	1813	broad.mit.edu	37	chr11	113295137	113295137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggcgacgaggaggtcGgccactgcgaggctgacgat	18	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:113295137G>A	uc001pnz.2	-	1	558	c.237C>T	c.(235-237)GCC>GCT	p.A79A	DRD2_uc010rwv.1_Silent_p.A79A|DRD2_uc001poa.3_Silent_p.A79A|DRD2_uc001pob.3_Silent_p.A79A|DRD2_uc009yyr.1_Silent_p.A79A	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	79	Helical; Name=2; (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		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)	CGAGGAGGTCGGCCACTGCGA	0.632													A	113295137	G	A	113295137	2	1	275	1	0	0	0	0	0	0	0	1	4757	1103	39	1		1	DRD2	11	113295137	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	11460886	113295137	21711379	808	141873											
HTR3A	3359	broad.mit.edu	37	chr11	113857318	113857318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatggtcatggacatcGtgggcttctacctgcccccc	9	16	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:113857318G>A	uc010rxb.1	+	7	1035	c.802G>A	c.(802-804)GTG>ATG	p.V268M	HTR3A_uc010rxa.1_Missense_Mutation_p.V268M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V247M	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	262	Helical; Name=1; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		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)	CATGGACATCGTGGGCTTCTA	0.577													A	113857318	G	A	113857318	3	1	275	1	0	0	0	0	1	0	0	0	7444	1145	40	1	854	1	HTR3A	11	113857318	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	562181	113857318	21149198	809	141874											
HTR3A	3359	broad.mit.edu	37	chr11	113857683	113857683	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctggttctggagagaatCgcctggctactttgcctgag	12	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:113857683C>T	uc010rxb.1	+	7	1400	c.1167C>T	c.(1165-1167)ATC>ATT	p.I389I	HTR3A_uc010rxa.1_Silent_p.I357I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.I336I	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	351	Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		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)	TGGAGAGAATCGCCTGGCTAC	0.582													T	113857683	C	T	113857683	2	4	275	1	0	0	0	0	0	0	0	1	7444	874	31	1		1	HTR3A	11	113857683	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	365	113857683	21148833	810	141875											
CEP164	22897	broad.mit.edu	37	chr11	117261750	117261751	+	Frame_Shift_Del	DEL	AA	AA	-													ttccctgcagaaactgagagAagagttggagtctcaacaga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:117261749_117261750GAA>G	uc001prc.3	+	16	2248_2249	c.2101_2102GAA>G	c.(2101-2103)gaafs	p.E701fs	CEP164_uc001prb.3_Frame_Shift_Del_p.E704fs|CEP164_uc010rxk.1_Frame_Shift_Del_p.E675fs|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Del_p.E134fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	701	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|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)		GAAACTGAGAGAAGAGTTGGAG	0.569													-	117261751	AA	-	117261750	7	5	275	1	0	1	0	1	0	0	0	0	3249	246	9	0	2160	0	CEP164	11	117261750	Frame_Shift_Del	DEL	AA	TCGA-HU-A4GX-01A-12D-A25D-08	3404067	117261750	17744766	811	141876											
TMPRSS13	84000	broad.mit.edu	37	chr11	117780651	117780651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccagcgcccctcccaCgatccgcccggtcatggccc	11	21	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:117780651C>T	uc001prs.1	-	8	1072	c.979G>A	c.(979-981)GTG>ATG	p.V327M	TMPRSS13_uc009yzr.1_Missense_Mutation_p.V6M|TMPRSS13_uc001prt.1_Missense_Mutation_p.V6M|TMPRSS13_uc001pru.1_Missense_Mutation_p.V327M	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	322	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCCCCTCCCACGATCCGCCCG	0.612													T	117780651	C	T	117780651	3	4	275	1	0	0	0	0	1	0	0	0	16242	536	19	1	748	1	TMPRSS13	11	117780651	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	518901	117780651	17225865	812	141877											
IL10RA	3587	broad.mit.edu	37	chr11	117869864	117869864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagggccgggctggggaCacacagggtggctcggcctt	18	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:117869864C>T	uc001prv.2	+	7	1322	c.1245C>T	c.(1243-1245)GAC>GAT	p.D415D	IL10RA_uc010rxl.1_Silent_p.D395D|IL10RA_uc010rxm.1_Silent_p.D395D|IL10RA_uc010rxn.1_Silent_p.D266D|IL10RA_uc001prw.2_Silent_p.D266D	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	415	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	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)		GGGCTGGGGACACACAGGGTG	0.642													T	117869864	C	T	117869864	2	4	275	1	0	0	0	0	0	0	0	1	7620	477	17	4		4	IL10RA	11	117869864	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	89213	117869864	17136652	813	141878											
VWA5A	4013	broad.mit.edu	37	chr11	124016059	124016059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccgtggcctggatgcGtgcccatgcaggtaggagca	17	10	0	0	rs144882371	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:124016059G>A	uc001pzu.2	+	18	2479	c.2270G>A	c.(2269-2271)CGT>CAT	p.R757H	VWA5A_uc001pzt.2_Missense_Mutation_p.R757H	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	757			R -> C.							upper_aerodigestive_tract(1)|ovary(1)	2						GCCTGGATGCGTGCCCATGCA	0.597													A	124016059	G	A	124016059	3	1	275	1	0	0	0	0	1	0	0	0	17239	1145	40	1	2336	1	VWA5A	11	124016059	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6146195	124016059	10990457	814	141879											
SPA17	53340	broad.mit.edu	37	chr11	124564263	124564263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaatccaagctgccttccGgggacacatagccagagagg	11	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr11:124564263G>A	uc001qap.2	+	5	513	c.377G>A	c.(376-378)CGG>CAG	p.R126Q		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	126	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	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;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GCTGCCTTCCGGGGACACATA	0.413													A	124564263	G	A	124564263	3	1	275	1	0	0	0	0	1	0	0	0	14971	1116	39	1	391	1	SPA17	11	124564263	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	548204	124564263	10442253	815	141880											
KDM5A	5927	broad.mit.edu	37	chr12	432249	432249	+	Frame_Shift_Del	DEL	T	T	-													caaaagaaggaaatttaaccTtttttgtggttgaagttagc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:432249delT	uc001qif.1	-	16	2637	c.2274delA	c.(2272-2274)AAAfs	p.K758fs	KDM5A_uc001qie.1_Frame_Shift_Del_p.K758fs|KDM5A_uc010sdn.1_Frame_Shift_Del_p.K717fs	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	758					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			skin(2)|ovary(1)	3						AAATTTAACCTTTTTTGTGGT	0.353			T 	NUP98	AML								-	432249	T	-	432249	7	5	275	1	0	1	0	1	0	0	0	0	8133	1623	56	0	2850	0	KDM5A	12	432249	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08		432249	133419646	816	141881											
WNT5B	81029	broad.mit.edu	37	chr12	1755054	1755054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctggccgagttccGcaaggtcggggaccggctga	17	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:1755054G>A	uc009zdq.2	+	5	958	c.716G>A	c.(715-717)CGC>CAC	p.R239H	WNT5B_uc001qjj.2_Missense_Mutation_p.R239H|WNT5B_uc001qjk.2_Missense_Mutation_p.R239H|WNT5B_uc001qjl.2_Missense_Mutation_p.R239H	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	239					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)			GCCGAGTTCCGCAAGGTCGGG	0.657													A	1755054	G	A	1755054	3	1	275	1	0	0	0	0	1	0	0	0	17389	1087	38	1	730	1	WNT5B	12	1755054	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1322805	1755054	132096841	817	141882											
CACNA1C	775	broad.mit.edu	37	chr12	2595422	2595422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctacaaccaggagggcAtagcaggtaagaggggcagg	16	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:2595422A>G	uc009zdu.1	+	6	1223	c.910A>G	c.(910-912)ATA>GTA	p.I304V	CACNA1C_uc009zdv.1_Missense_Mutation_p.I304V|CACNA1C_uc001qkb.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkc.2_Missense_Mutation_p.I304V|CACNA1C_uc001qke.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkf.2_Missense_Mutation_p.I304V|CACNA1C_uc001qjz.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkd.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkg.2_Missense_Mutation_p.I304V|CACNA1C_uc009zdw.1_Missense_Mutation_p.I304V|CACNA1C_uc001qkh.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkl.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkn.2_Missense_Mutation_p.I304V|CACNA1C_uc001qko.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkp.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkr.2_Missense_Mutation_p.I304V|CACNA1C_uc001qku.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkq.2_Missense_Mutation_p.I304V|CACNA1C_uc001qks.2_Missense_Mutation_p.I304V|CACNA1C_uc001qkt.2_Missense_Mutation_p.I304V|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.I40V|CACNA1C_uc001qkj.1_Missense_Mutation_p.I40V|CACNA1C_uc001qkk.1_Missense_Mutation_p.I40V|CACNA1C_uc001qkm.1_Missense_Mutation_p.I40V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	304	I.|Extracellular (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	CCAGGAGGGCATAGCAGGTAA	0.587													G	2595422	A	G	2595422	3	3	275	1	0	0	0	0	1	0	0	0	2540	217	8	3	932	3	CACNA1C	12	2595422	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	840368	2595422	131256473	818	141883											
CACNA1C	775	broad.mit.edu	37	chr12	2691997	2691997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcattcagatcctgaccGgggaggactggaattcggtg	15	8	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:2691997G>A	uc009zdu.1	+	15	2426	c.2113G>A	c.(2113-2115)GGG>AGG	p.G705R	CACNA1C_uc009zdv.1_Missense_Mutation_p.G702R|CACNA1C_uc001qkb.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkc.2_Missense_Mutation_p.G705R|CACNA1C_uc001qke.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkf.2_Missense_Mutation_p.G705R|CACNA1C_uc001qjz.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkd.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkg.2_Missense_Mutation_p.G705R|CACNA1C_uc009zdw.1_Missense_Mutation_p.G705R|CACNA1C_uc001qkh.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkl.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkn.2_Missense_Mutation_p.G705R|CACNA1C_uc001qko.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkp.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkr.2_Missense_Mutation_p.G705R|CACNA1C_uc001qku.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkq.2_Missense_Mutation_p.G705R|CACNA1C_uc001qks.2_Missense_Mutation_p.G705R|CACNA1C_uc001qkt.2_Missense_Mutation_p.G705R|CACNA1C_uc001qka.1_Missense_Mutation_p.G240R|CACNA1C_uc001qki.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkj.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkk.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkm.1_Missense_Mutation_p.G441R|CACNA1C_uc001qkw.2_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	705	II.|Extracellular (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	GATCCTGACCGGGGAGGACTG	0.493													A	2691997	G	A	2691997	3	1	275	1	0	0	0	0	1	0	0	0	2540	1116	39	1	2279	1	CACNA1C	12	2691997	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	96575	2691997	131159898	819	141884											
FOXM1	2305	broad.mit.edu	37	chr12	2973571	2973571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggcaatggcaccttcaccGagggctgcaacaccagtgac	13	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:2973571G>A	uc001qlf.2	-	8	1446	c.1181C>T	c.(1180-1182)TCG>TTG	p.S394L	FOXM1_uc001qle.2_Missense_Mutation_p.S394L|FOXM1_uc001qlg.2_Missense_Mutation_p.S379L|FOXM1_uc009zea.2_Missense_Mutation_p.S379L|FOXM1_uc009zeb.2_Missense_Mutation_p.S378L	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	394					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|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 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			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CACCTTCACCGAGGGCTGCAA	0.592													A	2973571	G	A	2973571	3	1	275	1	0	0	0	0	1	0	0	0	6018	1059	37	1	1236	1	FOXM1	12	2973571	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	281574	2973571	130878324	820	141885											
VWF	7450	broad.mit.edu	37	chr12	6128813	6128813	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagatgtcctccacataCagagtggtggggctcaccgg	13	12	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6128813C>T	uc001qnn.1	-	28	4021	c.3771G>A	c.(3769-3771)CTG>CTA	p.L1257L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1257					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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCTCCACATACAGAGTGGTGG	0.622													T	6128813	C	T	6128813	2	4	275	1	0	0	0	0	0	0	0	1	17243	465	17	4		4	VWF	12	6128813	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3155242	6128813	127723082	821	141886											
TAPBPL	55080	broad.mit.edu	37	chr12	6566754	6566754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcaggggcaggctgtgCggaagggcgctaccctggag	20	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6566754C>T	uc001qog.3	+	4	986	c.748C>T	c.(748-750)CGG>TGG	p.R250W	TAPBPL_uc001qoh.3_Missense_Mutation_p.R108W|TAPBPL_uc001qoi.1_Intron	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like precursor	250	Lumenal (Potential).|Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0						GCAGGCTGTGCGGAAGGGCGC	0.652													T	6566754	C	T	6566754	3	4	275	1	0	0	0	0	1	0	0	0	15550	759	27	1	762	1	TAPBPL	12	6566754	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	437941	6566754	127285141	822	141887											
NCAPD2	9918	broad.mit.edu	37	chr12	6634802	6634802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagtgacccagctgctGtgggagcgggccaccgagaa	15	13	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6634802G>A	uc001qoo.2	+	18	2314	c.2268G>A	c.(2266-2268)CTG>CTA	p.L756L	NCAPD2_uc009zen.1_Silent_p.L628L|NCAPD2_uc010sfd.1_Silent_p.L711L	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	756					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CCCAGCTGCTGTGGGAGCGGG	0.517													A	6634802	G	A	6634802	2	1	275	1	0	0	0	0	0	0	0	1	10205	1364	48	4		4	NCAPD2	12	6634802	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	68048	6634802	127217093	823	141888											
MLF2	8079	broad.mit.edu	37	chr12	6861111	6861111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcatccggcggctggCaggcctggtccctggcatgt	15	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6861111C>T	uc010sfi.1	-	3	223	c.160G>A	c.(160-162)GCC>ACC	p.A54T	MLF2_uc001qqp.2_Missense_Mutation_p.A54T|MLF2_uc009zey.1_Missense_Mutation_p.A54T	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	54					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						CGGCGGCTGGCAGGCCTGGTC	0.507													T	6861111	C	T	6861111	3	4	275	1	0	0	0	0	1	0	0	0	9616	710	25	2	610	2	MLF2	12	6861111	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	226309	6861111	126990784	824	141889											
CD4	920	broad.mit.edu	37	chr12	6924043	6924044	+	Frame_Shift_Ins	INS	-	-	G													caaggggtaaaaacatacagINSggggggaagaccctctccgt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:6924042_6924043A>AG	uc001qqv.2	+	4	749_750	c.491_492A>AG	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Ins_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													G	6924044	-	G	6924043	7	5	275	1	0	1	1	0	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	62932	6924043	126927852	825	141890											
SLC2A3	6515	broad.mit.edu	37	chr12	8075523	8075523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgaagagttcggccAcaataaaccagggaatgggg	14	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:8075523A>G	uc001qtr.2	-	9	1428	c.1166T>C	c.(1165-1167)GTG>GCG	p.V389A		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	389	Helical; Name=10; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		GAGTTCGGCCACAATAAACCA	0.547													G	8075523	A	G	8075523	3	3	275	1	0	0	0	0	1	0	0	0	14545	159	6	3	332	3	SLC2A3	12	8075523	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1151480	8075523	125776372	826	141891											
DUSP16	80824	broad.mit.edu	37	chr12	12630702	12630702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacgctggcgggatgcaCgggcctttgtcctgctgcct	16	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:12630702C>T	uc001rao.1	-	7	1695	c.1063G>A	c.(1063-1065)GTG>ATG	p.V355M	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.V207M	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	355					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				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		gCGGGATGCACGGGCCTTTGT	0.552													T	12630702	C	T	12630702	3	4	275	1	0	0	0	0	1	0	0	0	4816	536	19	1	938	1	DUSP16	12	12630702	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4555179	12630702	121221193	827	141892											
ABCC9	10060	broad.mit.edu	37	chr12	22035726	22035726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatgtcctctgtttctgCgggacgtagacgccgtgttg	13	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:22035726C>T	uc001rfi.1	-	14	2013	c.1993G>A	c.(1993-1995)GCA>ACA	p.A665T	ABCC9_uc001rfh.2_Missense_Mutation_p.A665T|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	665	Cytoplasmic (Potential).				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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGTTTCTGCGGGACGTAGA	0.378													T	22035726	C	T	22035726	3	4	275	1	0	0	0	0	1	0	0	0	59	768	27	1	2898	1	ABCC9	12	22035726	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9405024	22035726	111816169	828	141893											
ETNK1	55500	broad.mit.edu	37	chr12	22826468	22826468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactatagtctgtatccagaTagagaactacagagtcagtg	10	7	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:22826468T>C	uc001rft.2	+	6	1108	c.1086T>C	c.(1084-1086)GAT>GAC	p.D362D	ETNK1_uc009ziz.2_Silent_p.D362D	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	362					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						TGTATCCAGATAGAGAACTAC	0.358													C	22826468	T	C	22826468	2	2	275	1	0	0	0	0	0	0	0	1	5273	1403	49	3		3	ETNK1	12	22826468	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	790742	22826468	111025427	829	141894											
CASC1	55259	broad.mit.edu	37	chr12	25297610	25297610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaatctaacacttctgtGcctgttaataattaattaca	5	7	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:25297610G>T	uc001rgl.2	-	8	755	c.673C>A	c.(673-675)CAC>AAC	p.H225N	CASC1_uc001rgk.2_Missense_Mutation_p.H231N|CASC1_uc001rgm.3_Missense_Mutation_p.H289N|CASC1_uc001rgj.2_Missense_Mutation_p.H185N|CASC1_uc010sje.1_Missense_Mutation_p.H166N|CASC1_uc010sjf.1_Missense_Mutation_p.H113N|CASC1_uc010sjg.1_Missense_Mutation_p.H225N	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	225										ovary(2)	2	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)			ACACTTCTGTGCCTGTTAATA	0.343													T	25297610	G	T	25297610	3	4	275	1	0	0	0	0	1	0	0	0	2660	1333	46	5	1509	5	CASC1	12	25297610	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2471142	25297610	108554285	830	141895											
DDX11	1663	broad.mit.edu	37	chr12	31244761	31244761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaggcgcacaacctgatcGacaccatcacgggcatgcac	10	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:31244761G>A	uc001rjt.1	+	10	1449	c.1198G>A	c.(1198-1200)GAC>AAC	p.D400N	DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.D400N|DDX11_uc001rjs.1_Missense_Mutation_p.D400N|DDX11_uc001rju.1_Missense_Mutation_p.D78N|DDX11_uc001rjv.1_Missense_Mutation_p.D400N|DDX11_uc001rjw.1_Missense_Mutation_p.D374N|DDX11_uc001rjx.1_Missense_Mutation_p.D78N|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	400	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(3)	3	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)					CAACCTGATCGACACCATCAC	0.667										Multiple Myeloma(12;0.14)			A	31244761	G	A	31244761	3	1	275	1	0	0	0	0	1	0	0	0	4343	1058	37	1	1232	1	DDX11	12	31244761	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5947151	31244761	102607134	831	141896											
DDX11	1663	broad.mit.edu	37	chr12	31254910	31254912	+	In_Frame_Del	DEL	GAA	GAA	-													ctgggccgtctggctgccagGaagaaggtgagtggcctgtc					rs7966307		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:31254910_31254912delGAA	uc001rjt.1	+	21	2447_2449	c.2196_2198delGAA	c.(2194-2199)AGGAAG>AGG	p.K734del	DDX11_uc001rjr.1_In_Frame_Del_p.K734del|DDX11_uc001rjs.1_Intron|DDX11_uc001rju.1_In_Frame_Del_p.K406del|DDX11_uc001rjv.1_In_Frame_Del_p.K734del|DDX11_uc001rjw.1_In_Frame_Del_p.K708del|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	734					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(3)	3	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)					TGGCTGCCAGGAAGAAGGTGAGT	0.631										Multiple Myeloma(12;0.14)			-	31254912	GAA	-	31254910	7	5	275	1	0	1	0	1	0	0	0	0	4343	1165	41	0	2274	0	DDX11	12	31254910	In_Frame_Del	DEL	GAA	TCGA-HU-A4GX-01A-12D-A25D-08	10149	31254910	102596985	832	141897											
DENND5B	160518	broad.mit.edu	37	chr12	31613305	31613305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgccacagtcatcagGcgttgataatctgcacagaa	8	12	4	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:31613305G>A	uc001rki.1	-	4	1101	c.915C>T	c.(913-915)CGC>CGT	p.R305R	DENND5B_uc001rkh.1_Silent_p.R340R|DENND5B_uc009zjq.1_Silent_p.R224R|DENND5B_uc001rkj.2_Silent_p.R327R|DENND5B_uc001rkk.1_Silent_p.R227R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	305	DENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CAGTCATCAGGCGTTGATAAT	0.398													A	31613305	G	A	31613305	2	1	275	1	0	0	0	0	0	0	0	1	4437	1190	42	2		2	DENND5B	12	31613305	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	358395	31613305	102238590	833	141898											
KIF21A	55605	broad.mit.edu	37	chr12	39716468	39716468	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtagctgggccaaacttAcatgctgcctatcttagaag	10	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:39716468A>G	uc001rly.2	-	27	3817	c.3671_splice	c.e27+1	p.I1224_splice	KIF21A_uc001rlv.2_Splice_Site_p.I229_splice|KIF21A_uc001rlw.2_Splice_Site_p.I541_splice|KIF21A_uc001rlx.2_Splice_Site_p.I1211_splice|KIF21A_uc001rlz.2_Splice_Site_p.I1188_splice|KIF21A_uc010skl.1_Splice_Site_p.I1204_splice	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				GGCCAAACTTACATGCTGCCT	0.358													G	39716468	A	G	39716468	5	3	275	1	0	0	0	0	0	0	1	0	8288	405	14	3	1399	3	KIF21A	12	39716468	Splice_Site	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	8103163	39716468	94135427	834	141899											
H1FNT	341567	broad.mit.edu	37	chr12	48723373	48723373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcggccgccacgaagcgcCcagggggcaggccaaggcca	17	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:48723373C>A	uc001rrm.2	+	1	611	c.299C>A	c.(298-300)CCC>CAC	p.P100H		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	100					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						CACGAAGCGCCCAGGGGGCAG	0.667													A	48723373	C	A	48723373	3	1	275	1	0	0	0	0	1	0	0	0	6921	623	22	5	301	5	H1FNT	12	48723373	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9006905	48723373	85128522	835	141900											
ADCY6	112	broad.mit.edu	37	chr12	49176859	49176859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacacctgcaccagacggCgccagcaggatcgcccactc	11	17	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49176859C>T	uc001rsh.3	-	1	1019	c.359G>A	c.(358-360)CGC>CAC	p.R120H	ADCY6_uc001rsj.3_Missense_Mutation_p.R120H|ADCY6_uc001rsi.3_Missense_Mutation_p.R120H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	120	Cytoplasmic (Potential).				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	ATP binding|metal ion binding				0						CACCAGACGGCGCCAGCAGGA	0.662													T	49176859	C	T	49176859	3	4	275	1	0	0	0	0	1	0	0	0	298	768	27	1	3231	1	ADCY6	12	49176859	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	453486	49176859	84675036	836	141901											
MLL2	8085	broad.mit.edu	37	chr12	49421896	49421896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatgctcagcagctccGccactgccaccatcacgcca	6	19	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49421896G>A	uc001rta.3	-	46	14411	c.14411C>T	c.(14410-14412)GCG>GTG	p.A4804V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4804					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGCAGCTCCGCCACTGCCAC	0.592			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49421896	G	A	49421896	3	1	275	1	0	0	0	0	1	0	0	0	9621	1087	38	1	2238	1	MLL2	12	49421896	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	245037	49421896	84429999	837	141902											
MLL2	8085	broad.mit.edu	37	chr12	49427477	49427477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagctgtattaaggaaggGgccaccaggctgtccaggta	14	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49427477G>A	uc001rta.3	-	39	11011	c.11011C>T	c.(11011-11013)CCC>TCC	p.P3671S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3671	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTAAGGAAGGGGCCACCAGGC	0.647			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49427477	G	A	49427477	3	1	275	1	0	0	0	0	1	0	0	0	9621	1232	43	4	5666	4	MLL2	12	49427477	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5581	49427477	84424418	838	141903											
MLL2	8085	broad.mit.edu	37	chr12	49445149	49445149	+	Frame_Shift_Del	DEL	G	G	-													taggcatggctcctcaggctGgggggacaggtgtggctcct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:49445149delG	uc001rta.3	-	10	2317	c.2317delC	c.(2317-2319)CAGfs	p.Q773fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	773	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCCTCAGGCTGGGGGGACAGG	0.677			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49445149	G	-	49445149	7	5	275	1	0	1	0	1	0	0	0	0	9621	1357	47	0	14476	0	MLL2	12	49445149	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	17672	49445149	84406746	839	141904											
KRT7	3855	broad.mit.edu	37	chr12	52629019	52629019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtcggccaagagcagCcgcctcccagacatctttga	10	14	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:52629019C>T	uc001saa.1	+	2	532	c.405C>T	c.(403-405)AGC>AGT	p.S135S	KRT7_uc009zmf.1_Silent_p.S135S	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	135	Rod.|Linker 1.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCAAGAGCAGCCGCCTCCCAG	0.637													T	52629019	C	T	52629019	2	4	275	1	0	0	0	0	0	0	0	1	8483	738	26	2		2	KRT7	12	52629019	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3183870	52629019	81222876	840	141905											
KRT81	3887	broad.mit.edu	37	chr12	52685196	52685196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggccgggccgcggcccGcaggccgagatgcagctgaa	17	15	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:52685196G>A	uc001sab.2	-	1	104	c.54C>T	c.(52-54)TGC>TGT	p.C18C	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	18	Head.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGCGGCCCGCAGGCCGAGA	0.692													A	52685196	G	A	52685196	2	1	275	1	0	0	0	0	0	0	0	1	8495	1079	38	1		1	KRT81	12	52685196	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	56177	52685196	81166699	841	141906											
KRT73	319101	broad.mit.edu	37	chr12	53012262	53012262	+	Frame_Shift_Del	DEL	C	C	-													cagcggagcagccgctgaagCcccccttggcagcagctccc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53012261_53012261GC>G	uc001sas.3	-	0	83	c.48_48GC>C	c.(46-48)ggcfs	p.G16fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	16	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCGCTGAAGCCCCCCTTGG	0.612													-	53012262	C	-	53012262	7	5	275	1	0	1	0	1	0	0	0	0	8486	739	26	0	1611	0	KRT73	12	53012262	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	327066	53012262	80839633	842	141907											
KRT2	3849	broad.mit.edu	37	chr12	53044122	53044124	+	Splice_Site	DEL	CTT	CTT	-													gcgtttcactctgccacctaCttcttcttataatcctccac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53044121_53044123ACTT>A	uc001sat.3	-	2	833	c.800_splice	c.e2+1	p.K267_splice		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	267	Coil 1B.|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)		TCTGCCACCTACTTCTTCTTATA	0.453													-	53044124	CTT	-	53044122	8	5	275	1	0	1	0	1	0	0	1	0	8457	579	20	0	1150	0	KRT2	12	53044122	Splice_Site	DEL	CTT	TCGA-HU-A4GX-01A-12D-A25D-08	31860	53044122	80807773	843	141908											
TENC1	23371	broad.mit.edu	37	chr12	53451887	53451887	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaaaggcgatgtcatgGtgaggggggtcctgtcaaca	14	9	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53451887G>A	uc001sbp.2	+	14	1230	c.1095_splice	c.e14+1	p.M365_splice	TENC1_uc001sbl.2_Splice_Site_p.M241_splice|TENC1_uc001sbn.2_Splice_Site_p.M375_splice|TENC1_uc001sbo.1_Splice_Site_p.M365_splice|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CGATGTCATGGTGAGGGGGGT	0.577													A	53451887	G	A	53451887	5	1	275	1	0	0	0	0	0	0	1	0	15755	1275	44	4	1259	4	TENC1	12	53451887	Splice_Site	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	407765	53451887	80400008	844	141909											
SPRYD3	84926	broad.mit.edu	37	chr12	53468510	53468510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatgccacagccaatccGgtccccggagttgcactttg	9	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53468510G>A	uc001sbt.1	-	5	451	c.430C>T	c.(430-432)CGG>TGG	p.R144W	SPRYD3_uc010snw.1_Intron	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	144	B30.2/SPRY.									central_nervous_system(1)	1						CAGCCAATCCGGTCCCCGGAG	0.567													A	53468510	G	A	53468510	3	1	275	1	0	0	0	0	1	0	0	0	15108	1115	39	1	926	1	SPRYD3	12	53468510	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	16623	53468510	80383385	845	141910											
SPRYD3	84926	broad.mit.edu	37	chr12	53470944	53470944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttgaacctctcctgaTatcggaaagctcggacctct	8	11	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:53470944T>C	uc001sbt.1	-	2	146	c.125A>G	c.(124-126)TAT>TGT	p.Y42C	SPRYD3_uc010snw.1_Translation_Start_Site	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	42	B30.2/SPRY.									central_nervous_system(1)	1						CCTCTCCTGATATCGGAAAGC	0.468													C	53470944	T	C	53470944	3	2	275	1	0	0	0	0	1	0	0	0	15108	1406	49	3	1243	3	SPRYD3	12	53470944	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2434	53470944	80380951	846	141911											
GLS2	27165	broad.mit.edu	37	chr12	56872956	56872956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggagcacaatgttgctGctcacacacctggatcccag	10	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:56872956G>A	uc001slj.2	-	4	693	c.414C>T	c.(412-414)AGC>AGT	p.S138S	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Intron|GLS2_uc009zot.2_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	138					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAATGTTGCTGCTCACACACC	0.428													A	56872956	G	A	56872956	2	1	275	1	0	0	0	0	0	0	0	1	6464	1310	46	2		2	GLS2	12	56872956	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3402012	56872956	76978939	847	141912											
LRP1	4035	broad.mit.edu	37	chr12	57554728	57554728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggacagtcggcgtgggCggctggagagggcgtggatg	21	8	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57554728C>T	uc001snd.2	+	13	2498	c.2032C>T	c.(2032-2034)CGG>TGG	p.R678W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	678	LDL-receptor class B 6.|Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGGCGTGGGCGGCTGGAGAG	0.627													T	57554728	C	T	57554728	3	4	275	1	0	0	0	0	1	0	0	0	8951	759	27	1	2082	1	LRP1	12	57554728	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	681772	57554728	76297167	848	141913											
LRP1	4035	broad.mit.edu	37	chr12	57556223	57556223	+	Frame_Shift_Del	DEL	C	C	-													aacggggtgtaggaggcgcaCcccccactgtgacccttctg					rs34108076		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57556222_57556222AC>A	uc001snd.3	+	13	2791	c.2325_2325AC>A	c.(2323-2325)gcafs	p.A775fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	775					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	TAGGAGGCGCACCCCCCACTG	0.602													-	57556223	C	-	57556223	7	5	275	1	0	1	0	1	0	0	0	0	8951	507	18	0	2380	0	LRP1	12	57556223	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	1495	57556223	76295672	849	141914											
LRP1	4035	broad.mit.edu	37	chr12	57595682	57595682	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctcggatgagcccaaggaaGagtgtggtgagccgagaccc	16	10	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57595682G>T	uc001snd.2	+	67	11054	c.10588G>T	c.(10588-10590)GAG>TAG	p.E3530*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3530	Extracellular (Potential).|LDL-receptor class A 25.				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCAAGGAAGAGTGTGGTGA	0.647													T	57595682	G	T	57595682	4	4	275	1	0	0	0	0	0	1	0	0	8951	943	33	5	10854	5	LRP1	12	57595682	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	39459	57595682	76256213	850	141915											
LRP1	4035	broad.mit.edu	37	chr12	57603940	57603941	+	Frame_Shift_Ins	INS	-	-	C													gcctgtgccctctccaacgcINScccccccagatggtatgctt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:57603939_57603940G>GC	uc001snd.3	+	80	13033_13034	c.12567_12568G>GC	c.(12565-12570)acgcccfs	p.T4189fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4189					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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)	CCTCTCCAACGCCCCCCCCAGA	0.639													C	57603941	-	C	57603940	7	5	275	1	0	1	1	0	0	0	0	0	8951	739	26	0	12890	0	LRP1	12	57603940	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	8258	57603940	76247955	851	141916											
CYP27B1	1594	broad.mit.edu	37	chr12	58157486	58157486	+	Frame_Shift_Del	DEL	G	G	-													gggaagagatgcaaatgggtGgggggtgggaccctccccca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:58157485_58157485TG>T	uc001spz.1	-	7	1474	c.1322_1322CA>A	c.(1321-1323)cacfs	p.H441fs	CYP27B1_uc001sqa.1_Frame_Shift_Del_p.H206fs	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	441					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.H441fs*33(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TGCAAATGGGTGGGGGGTGGG	0.577													-	58157486	G	-	58157486	7	5	275	1	0	1	0	1	0	0	0	0	4159	1348	47	0	213	0	CYP27B1	12	58157486	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	553546	58157486	75694409	852	141917											
PPM1H	57460	broad.mit.edu	37	chr12	63195674	63195674	+	Frame_Shift_Del	DEL	G	G	-													ttctcggtaaagaagcgtgtGgggggcgtgctgggggagcc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:63195673_63195673TG>T	uc001srk.3	-	2	828	c.679_679CA>A	c.(679-681)acafs	p.T227fs		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	227	PP2C-like.						phosphoprotein phosphatase activity	p.T227fs*12(2)		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)		AAGAAGCGTGTGGGGGGCGTG	0.642													-	63195674	G	-	63195674	7	5	275	1	0	1	0	1	0	0	0	0	12341	1335	47	0	898	0	PPM1H	12	63195674	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	5038188	63195674	70656221	853	141918											
IL22	50616	broad.mit.edu	37	chr12	68647066	68647066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagccagcatgaaggtgcGgttggtgatatagggctgct	15	7	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:68647066G>A	uc001sty.1	-	1	216	c.163C>T	c.(163-165)CGC>TGC	p.R55C	IL22_uc010stb.1_Missense_Mutation_p.R55C	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	interleukin 22 precursor	55					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding				0		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATGAAGGTGCGGTTGGTGATA	0.498													A	68647066	G	A	68647066	3	1	275	1	0	0	0	0	1	0	0	0	7672	1116	39	1	396	1	IL22	12	68647066	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5451392	68647066	65204829	854	141919											
PTPRB	5787	broad.mit.edu	37	chr12	70946688	70946688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgctgttaggattttcGgcacatttgctggcaaaata	11	6	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:70946688G>A	uc001swb.3	-	19	4632	c.4602C>T	c.(4600-4602)GCC>GCT	p.A1534A	PTPRB_uc010sto.1_Silent_p.A1444A|PTPRB_uc010stp.1_Silent_p.A1444A|PTPRB_uc001swc.3_Silent_p.A1752A|PTPRB_uc001swa.3_Silent_p.A1664A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1534	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			TAGGATTTTCGGCACATTTGC	0.468													A	70946688	G	A	70946688	2	1	275	1	0	0	0	0	0	0	0	1	12796	1103	39	1		1	PTPRB	12	70946688	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2299622	70946688	62905207	855	141920											
ZFC3H1	196441	broad.mit.edu	37	chr12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-													tgctgttctttttgttgccaTtttttactggctgactgaag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:72038780_72038780AT>A	uc001swo.2	-	3	1515	c.1156_1156AT>T	c.(1156-1158)tggfs	p.W386fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	386					RNA processing	intracellular	metal ion binding	p.K385fs*9(1)		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						TTTTGTTGCCATTTTTTACTG	0.353													-	72038781	T	-	72038781	7	5	275	1	0	1	0	1	0	0	0	0	17630	1490	52	0	4942	0	ZFC3H1	12	72038781	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1092093	72038781	61813114	856	141921											
NAV3	89795	broad.mit.edu	37	chr12	78512068	78512068	+	Frame_Shift_Del	DEL	A	A	-													aagctggaacaagtgcactcAaaacacccggtaggcttgtc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:78512068delA	uc001syp.2	+	14	3204	c.3031delA	c.(3031-3033)AAAfs	p.K1011fs	NAV3_uc001syo.2_Frame_Shift_Del_p.K1011fs|NAV3_uc010sub.1_Frame_Shift_Del_p.K511fs|NAV3_uc009zsf.2_Frame_Shift_Del_p.K19fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1011						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AAGTGCACTCAAAACACCCGG	0.453										HNSCC(70;0.22)			-	78512068	A	-	78512068	7	5	275	1	0	1	0	1	0	0	0	0	10185	131	5	0	3085	0	NAV3	12	78512068	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	6473287	78512068	55339827	857	141922											
SLC6A15	55117	broad.mit.edu	37	chr12	85285889	85285889	+	Frame_Shift_Del	DEL	T	T	-													ctctttttaccaccttgctaTttttgggcattggagagtat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:85285888_85285888AT>A	uc001szv.3	-	1	505	c.12_12AT>T	c.(10-12)aatfs	p.N4fs	SLC6A15_uc010sul.2_Intron|SLC6A15_uc001szy.3_Frame_Shift_Del_p.N4fs	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	4					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CCACCTTGCTATTTTTGGGCA	0.333													-	85285889	T	-	85285889	7	5	275	1	0	1	0	1	0	0	0	0	14678	1493	52	0	2339	0	SLC6A15	12	85285889	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	6773821	85285889	48566006	858	141923											
MGAT4C	25834	broad.mit.edu	37	chr12	86373300	86373300	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcaaaatatcattttGccgatcttctgttccagtat	6	8	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:86373300G>A	uc001tai.3	-	8	2454	c.1204C>T	c.(1204-1206)CAA>TAA	p.Q402*	MGAT4C_uc001tal.3_Nonsense_Mutation_p.Q402*|MGAT4C_uc001taj.3_Nonsense_Mutation_p.Q402*|MGAT4C_uc001tak.3_Nonsense_Mutation_p.Q402*|MGAT4C_uc010sum.1_Nonsense_Mutation_p.Q426*|MGAT4C_uc001tah.3_Nonsense_Mutation_p.Q402*	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	402	Lumenal (Potential).				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			ovary(3)	3						ATATCATTTTGCCGATCTTCT	0.343													A	86373300	G	A	86373300	4	1	275	1	0	0	0	0	0	1	0	0	9547	1328	46	2	236	2	MGAT4C	12	86373300	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1087411	86373300	47478595	859	141924											
CKAP4	10970	broad.mit.edu	37	chr12	106633826	106633826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcattgatctccttctggCtcctcttctggacttctgtg	8	12	6	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:106633826C>T	uc001tlk.2	-	2	869	c.785G>A	c.(784-786)AGC>AAC	p.S262N		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	262	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						CTCCTTCTGGCTCCTCTTCTG	0.517													T	106633826	C	T	106633826	3	4	275	1	0	0	0	0	1	0	0	0	3444	797	28	2	1027	2	CKAP4	12	106633826	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	20260526	106633826	27218069	860	141925											
SART3	9733	broad.mit.edu	37	chr12	108931976	108931976	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctttactttcagttgtcGatcctatgataaagaattcc	5	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:108931976G>A	uc001tmz.1	-	8	1301	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*	SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Nonsense_Mutation_p.R356*|SART3_uc010swy.1_Nonsense_Mutation_p.R242*|SART3_uc010swz.1_Nonsense_Mutation_p.R356*|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	356	HAT 5.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						TTCAGTTGTCGATCCTATGAT	0.408									Porokeratosis				A	108931976	G	A	108931976	4	1	275	1	0	0	0	0	0	1	0	0	13847	1066	37	1	1873	1	SART3	12	108931976	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2298150	108931976	24919919	861	141926											
DAO	1610	broad.mit.edu	37	chr12	109278816	109278816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattggagcaggagtcatcGggctgtccaccgccctctgc	13	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:109278816G>A	uc001tnr.3	+	2	187	c.34G>A	c.(34-36)GGG>AGG	p.G12R	DAO_uc001tnq.3_Missense_Mutation_p.G12R|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	12	FAD.				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						AGGAGTCATCGGGCTGTCCAC	0.577													A	109278816	G	A	109278816	3	1	275	1	0	0	0	0	1	0	0	0	4231	1116	39	1	36	1	DAO	12	109278816	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	346840	109278816	24573079	862	141927											
TRPV4	59341	broad.mit.edu	37	chr12	110236479	110236479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtcgttgttgagcacGgcctccaggttgctgtcggg	16	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:110236479G>A	uc001tpj.1	-	5	1187	c.1092C>T	c.(1090-1092)GCC>GCT	p.A364A	TRPV4_uc001tpg.1_Silent_p.A330A|TRPV4_uc001tph.1_Silent_p.A317A|TRPV4_uc001tpi.1_Silent_p.A317A|TRPV4_uc001tpk.1_Silent_p.A364A|TRPV4_uc001tpl.1_Silent_p.A364A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	364	Cytoplasmic (Potential).				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TGTTGAGCACGGCCTCCAGGT	0.597													A	110236479	G	A	110236479	2	1	275	1	0	0	0	0	0	0	0	1	16595	1103	39	1		1	TRPV4	12	110236479	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	957663	110236479	23615416	863	141928											
GIT2	9815	broad.mit.edu	37	chr12	110383069	110383069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagaatgtacttaacccttCgggcgctttcgtccctcgac	8	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:110383069C>T	uc001tps.2	-	16	1892	c.1727G>A	c.(1726-1728)CGA>CAA	p.R576Q	TCHP_uc001tpo.1_Intron|GIT2_uc001tpr.2_Intron|GIT2_uc001tpq.2_Intron|GIT2_uc001tpv.2_Intron|GIT2_uc001tpu.2_Intron|GIT2_uc001tpt.2_Intron|GIT2_uc010sxu.1_Intron	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	576					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						CTTAACCCTTCGGGCGCTTTC	0.582													T	110383069	C	T	110383069	3	4	275	1	0	0	0	0	1	0	0	0	6397	884	31	1	572	1	GIT2	12	110383069	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	146590	110383069	23468826	864	141929											
ANAPC7	51434	broad.mit.edu	37	chr12	110819722	110819722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctaaatagagggcccGggagtagcgtttgctataga	14	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:110819722G>A	uc001tqo.2	-	8	1070	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	ANAPC7_uc001tqp.3_Missense_Mutation_p.R357W	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	357					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	protein phosphatase binding				0						TAGAGGGCCCGGGAGTAGCGT	0.433													A	110819722	G	A	110819722	3	1	275	1	0	0	0	0	1	0	0	0	606	1115	39	1	750	1	ANAPC7	12	110819722	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	436653	110819722	23032173	865	141930											
MYL2	4633	broad.mit.edu	37	chr12	111352053	111352053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattggacccggagcctcctTgatcatttcatcaatttctt	6	11	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:111352053T>C	uc001try.3	-	4	282	c.211A>G	c.(211-213)AAG>GAG	p.K71E	MYL2_uc001trx.3_Missense_Mutation_p.K52E	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	71					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GGAGCCTCCTTGATCATTTCA	0.388													C	111352053	T	C	111352053	3	2	275	1	0	0	0	0	1	0	0	0	10047	1821	63	3	305	3	MYL2	12	111352053	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	532331	111352053	22499842	866	141931											
CUX2	23316	broad.mit.edu	37	chr12	111733145	111733145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctccgcaggggccttcAagaagtacagatcactttgg	11	11	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:111733145A>G	uc001tsa.1	+	7	722	c.569A>G	c.(568-570)CAA>CGA	p.Q190R	CUX2_uc001tsb.1_Missense_Mutation_p.Q245R	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						AGGGGCCTTCAAGAAGTACAG	0.602													G	111733145	A	G	111733145	3	3	275	1	0	0	0	0	1	0	0	0	4065	130	5	3	595	3	CUX2	12	111733145	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	381092	111733145	22118750	867	141932											
ATXN2	6311	broad.mit.edu	37	chr12	111907939	111907939	+	Frame_Shift_Del	DEL	C	C	-													cgcatgcgtctgctcatgagCcccgtactgagttgctgaag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:111907939delC	uc001tsj.2	-	20	3451	c.3289delG	c.(3289-3291)GCTfs	p.A1097fs	ATXN2_uc001tsh.2_Frame_Shift_Del_p.A832fs|ATXN2_uc001tsi.2_Frame_Shift_Del_p.A808fs|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Frame_Shift_Del_p.A285fs|ATXN2_uc001tsl.1_Frame_Shift_Del_p.A116fs	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1097					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			ovary(1)|breast(1)	2						TGCTCATGAGCCCCGTACTGA	0.438													-	111907939	C	-	111907939	7	5	275	1	0	1	0	1	0	0	0	0	1211	739	26	0	676	0	ATXN2	12	111907939	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	174794	111907939	21943956	868	141933											
NAA25	80018	broad.mit.edu	37	chr12	112485490	112485490	+	Frame_Shift_Del	DEL	A	A	-													tgtcttttggatcccagctgAaaaaaacatttaagtctctg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:112485489_112485489GA>G	uc001ttm.3	-	16	2044	c.1986_1986TC>C	c.(1984-1986)ttcfs	p.F662fs	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Frame_Shift_Del_p.F634fs|NAA25_uc009zwa.2_Frame_Shift_Del_p.F662fs	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	662						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						GATCCCAGCTGAAAAAAACAT	0.353													-	112485490	A	-	112485490	7	5	275	1	0	1	0	1	0	0	0	0	10121	246	9	0	965	0	NAA25	12	112485490	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	577551	112485490	21366405	869	141934											
C12orf51	283450	broad.mit.edu	37	chr12	112690349	112690349	+	Frame_Shift_Del	DEL	G	G	-													ccaccttaaaatttaaggaaGggggggaaatgcactttaaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:112690349delG	uc009zwc.2	-	16	2183	c.2165delC	c.(2164-2166)CCTfs	p.P722fs	C12orf51_uc010syk.1_Intron|C12orf51_uc001tts.2_Intron|C12orf51_uc001ttt.3_Intron	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						ATTTAAGGAAGGGGGGGAAAT	0.393													-	112690349	G	-	112690349	7	5	275	1	0	1	0	1	0	0	0	0	1696	1000	35	0	10041	0	C12orf51	12	112690349	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	204859	112690349	21161546	870	141935											
SLC24A6	80024	broad.mit.edu	37	chr12	113745598	113745598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttcaccacctctgtggCggccgcgttgatccacaggg	13	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:113745598C>T	uc001tvc.2	-	13	1519	c.1309G>A	c.(1309-1311)GCC>ACC	p.A437T	SLC24A6_uc001tuz.2_Missense_Mutation_p.A142T|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Missense_Mutation_p.A175T	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	437	Helical; Name=9; (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						ACCTCTGTGGCGGCCGCGTTG	0.622													T	113745598	C	T	113745598	3	4	275	1	0	0	0	0	1	0	0	0	14470	768	27	1	461	1	SLC24A6	12	113745598	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1055249	113745598	20106297	871	141936											
MED13L	23389	broad.mit.edu	37	chr12	116399155	116399155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacggtcctgggtggcCggattgcacgtgagccagga	17	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:116399155C>T	uc001tvw.2	-	31	6604	c.6549G>A	c.(6547-6549)CCG>CCA	p.P2183P		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2183					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGTGGCCGGATTGCACG	0.517													T	116399155	C	T	116399155	2	4	275	1	0	0	0	0	0	0	0	1	9431	639	23	1		1	MED13L	12	116399155	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2653557	116399155	17452740	872	141937											
KSR2	283455	broad.mit.edu	37	chr12	117914383	117914383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagccagccattctggatgCgcagtttgtcctcccgcctg	10	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:117914383C>T	uc001two.2	-	17	2436	c.2381G>A	c.(2380-2382)CGC>CAC	p.R794H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	823	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R855H(1)		lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTCTGGATGCGCAGTTTGTC	0.597													T	117914383	C	T	117914383	3	4	275	1	0	0	0	0	1	0	0	0	8582	768	27	1	400	1	KSR2	12	117914383	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1515228	117914383	15937512	873	141938											
KSR2	283455	broad.mit.edu	37	chr12	118199074	118199074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggcagggaacggtggcccGactccagtggcgggggcggg	23	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:118199074G>A	uc001two.2	-	4	696	c.641C>T	c.(640-642)TCG>TTG	p.S214L		NM_173598	NP_775869	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			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACGGTGGCCCGACTCCAGTGG	0.746													A	118199074	G	A	118199074	3	1	275	1	0	0	0	0	1	0	0	0	8582	1059	37	1	2192	1	KSR2	12	118199074	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	284691	118199074	15652821	874	141939											
PXN	5829	broad.mit.edu	37	chr12	120662036	120662036	+	Frame_Shift_Del	DEL	G	G	-													cattgagggcctcgctggacGggggtggggggacggggggt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:120662036delG	uc001txt.2	-	2	289	c.158delC	c.(157-159)CCGfs	p.P53fs	PXN_uc001txv.2_5'UTR|PXN_uc001txx.2_5'UTR|PXN_uc001txy.2_Frame_Shift_Del_p.P53fs|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	53	Pro-rich.				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			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGCTGGACGGGGGTGGGGG	0.622													-	120662036	G	-	120662036	7	5	275	1	0	1	0	1	0	0	0	0	12852	1116	39	0	1661	0	PXN	12	120662036	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	2462962	120662036	13189859	875	141940											
KDM2B	84678	broad.mit.edu	37	chr12	122018740	122018740	+	Frame_Shift_Del	DEL	T	T	-													ttgtatatataactgttttcTttttttgcttttctgctgca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:122018739_122018739CT>C	uc001uat.3	-	0	182	c.78_78AG>G	c.(76-78)aagfs	p.K26fs	KDM2B_uc001uas.3_5'Flank|KDM2B_uc021rfd.1_5'Flank|KDM2B_uc001uau.3_5'UTR|KDM2B_uc021rfe.1_Frame_Shift_Del_p.K26fs|KDM2B_uc001uav.4_Frame_Shift_Del_p.K26fs	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	26					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						TAACTGTTTTCTTTTTTTGCT	0.507													-	122018740	T	-	122018740	7	5	275	1	0	1	0	1	0	0	0	0	8125	1609	56	0	4114	0	KDM2B	12	122018740	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1356704	122018740	11833155	876	141941											
ORAI1	84876	broad.mit.edu	37	chr12	122079120	122079120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgcacaatctcaactcGgtcaaggagtccccccatga	8	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:122079120G>A	uc010szz.1	+	3	670	c.477G>A	c.(475-477)TCG>TCA	p.S159S		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	calcium release-activated calcium channel	159	Cytoplasmic (Potential).				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ATCTCAACTCGGTCAAGGAGT	0.617													A	122079120	G	A	122079120	2	1	275	1	0	0	0	0	0	0	0	1	11257	1103	39	1		1	ORAI1	12	122079120	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	60380	122079120	11772775	877	141942											
MORN3	283385	broad.mit.edu	37	chr12	122092338	122092338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaaactggatcccataaCcctgaaagtacgaagatgct	8	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:122092338C>T	uc001uax.2	-	3	476	c.305G>A	c.(304-306)GGT>GAT	p.G102D	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	102	MORN 3.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GATCCCATAACCCTGAAAGTA	0.592													T	122092338	C	T	122092338	3	4	275	1	0	0	0	0	1	0	0	0	9709	521	18	4	429	4	MORN3	12	122092338	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	13218	122092338	11759557	878	141943											
SBNO1	55206	broad.mit.edu	37	chr12	123829936	123829936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagaggtcatggcatttCgtactgttggtgctgagact	14	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:123829936C>T	uc010tap.1	-	3	419	c.419G>A	c.(418-420)CGA>CAA	p.R140Q	SBNO1_uc010tao.1_Missense_Mutation_p.R139Q|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.R140Q|SBNO1_uc001ueu.2_Missense_Mutation_p.R139Q|SBNO1_uc001uev.2_Missense_Mutation_p.R138Q|SBNO1_uc009zxy.1_Missense_Mutation_p.R105Q	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	140							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CATGGCATTTCGTACTGTTGG	0.418													T	123829936	C	T	123829936	3	4	275	1	0	0	0	0	1	0	0	0	13862	884	31	1	3878	1	SBNO1	12	123829936	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1737598	123829936	10021959	879	141944											
GTF2H3	2967	broad.mit.edu	37	chr12	124139506	124139506	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagtgcgttgcagtaTatgaacttcatgaatgtcat	10	6	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:124139506T>C	uc001ufo.1	+	8	548	c.522T>C	c.(520-522)TAT>TAC	p.Y174Y	GTF2H3_uc010tau.1_Silent_p.Y133Y	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3,	174					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CGTTGCAGTATATGAACTTCA	0.418								NER					C	124139506	T	C	124139506	2	2	275	1	0	0	0	0	0	0	0	1	6864	1413	49	3		3	GTF2H3	12	124139506	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	309570	124139506	9712389	880	141945											
DNAH10	196385	broad.mit.edu	37	chr12	124274577	124274578	+	Frame_Shift_Ins	INS	-	-	C													agagtggacggcctagtcacINSccccatggaaaacctgacct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:124274576_124274577A>AC	uc001uft.4	+	10	1565_1566	c.1540_1541A>AC	c.(1540-1542)accfs	p.T514fs	DNAH10_uc010tav.1_5'UTR|DNAH10_uc010taw.1_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	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)		CGGCCTAGTCACCCCCATGGAA	0.47													C	124274578	-	C	124274577	7	5	275	1	0	1	1	0	0	0	0	0	4598	507	18	0	1583	0	DNAH10	12	124274577	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	135071	124274577	9577318	881	141946											
TMEM132B	114795	broad.mit.edu	37	chr12	125834469	125834469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtggcagccagctgtcGgctgcaaggggccccagggc	18	12	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:125834469G>A	uc001uhe.1	+	2	532	c.524G>A	c.(523-525)CGG>CAG	p.R175Q		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	175	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	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)		GCCAGCTGTCGGCTGCAAGGG	0.617													A	125834469	G	A	125834469	3	1	275	1	0	0	0	0	1	0	0	0	16043	1116	39	1	530	1	TMEM132B	12	125834469	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1559892	125834469	8017426	882	141947											
GLT1D1	144423	broad.mit.edu	37	chr12	129442187	129442187	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctactgttttccaatcctcAggtaaagaaaagttctttcc	6	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:129442187A>C	uc010tbh.1	+	12	902	c.893A>C	c.(892-894)CAG>CCG	p.Q298P	GLT1D1_uc001uhx.1_Missense_Mutation_p.Q213P|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	293					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	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)		TCCAATCCTCAGGTAAAGAAA	0.443													C	129442187	A	C	129442187	3	2	275	1	0	0	0	0	1	0	0	0	6465	202	7	5	664	5	GLT1D1	12	129442187	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	3607718	129442187	4409708	883	141948											
FZD10	11211	broad.mit.edu	37	chr12	130647800	130647800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtctctacccccatccccGcctgccgggtcatgtgcgag	11	17	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:130647800G>A	uc001uii.2	+	1	769	c.313G>A	c.(313-315)GCC>ACC	p.A105T	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	105	FZ.|Extracellular (Potential).				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			lung(3)|breast(1)|central_nervous_system(1)	5	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)		CCCCATCCCCGCCTGCCGGGT	0.662													A	130647800	G	A	130647800	3	1	275	1	0	0	0	0	1	0	0	0	6129	1087	38	1	315	1	FZD10	12	130647800	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1205613	130647800	3204095	884	141949											
EP400	57634	broad.mit.edu	37	chr12	132475230	132475230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaaaaaaggaagaaggCcttaaatttacagaaagttt	9	3	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:132475230C>T	uc001ujn.2	+	8	2635	c.2600C>T	c.(2599-2601)GCC>GTC	p.A867V	EP400_uc001ujl.2_Missense_Mutation_p.A866V|EP400_uc001ujm.2_Missense_Mutation_p.A867V|EP400_uc001ujj.1_Missense_Mutation_p.A830V|EP400_uc001ujk.2_Missense_Mutation_p.A903V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	903					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		AGGAAGAAGGCCTTAAATTTA	0.378													T	132475230	C	T	132475230	3	4	275	1	0	0	0	0	1	0	0	0	5149	739	26	2	2627	2	EP400	12	132475230	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1827430	132475230	1376665	885	141950											
GALNT9	50614	broad.mit.edu	37	chr12	132688221	132688221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcacctccatgctgccGccacactgccacacctgcgg	10	19	0	0	rs112458926		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:132688221G>A	uc001ukc.3	-	7	1208	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	GALNT9_uc009zyr.2_Silent_p.G138G|GALNT9_uc001ukb.2_Silent_p.G221G|GALNT9_uc001uka.2_5'UTR	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	364	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	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)		CCATGCTGCCGCCACACTGCC	0.687													A	132688221	G	A	132688221	2	1	275	1	0	0	0	0	0	0	0	1	6220	1074	38	1		1	GALNT9	12	132688221	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	212991	132688221	1163674	886	141951											
CHFR	55743	broad.mit.edu	37	chr12	133428216	133428216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcacactgctgaggggCgacacgcgggtcctgctcgc	14	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr12:133428216C>T	uc001ulf.2	-	12	1600	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A494T|CHFR_uc010tbs.1_Missense_Mutation_p.A505T|CHFR_uc001uld.2_Missense_Mutation_p.A465T|CHFR_uc010tbt.1_Missense_Mutation_p.A414T	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	506					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			skin(1)	1	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)		TGCTGAGGGGCGACACGCGGG	0.652													T	133428216	C	T	133428216	3	4	275	1	0	0	0	0	1	0	0	0	3337	768	27	1	506	1	CHFR	12	133428216	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	739995	133428216	423679	887	141952											
CRYL1	51084	broad.mit.edu	37	chr13	21013765	21013765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcattgcttcacatggacCaagccagcaaacaacttgga	8	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:21013765C>A	uc001une.2	-	4	484	c.405G>T	c.(403-405)TTG>TTT	p.L135F	CRYL1_uc001unf.2_Missense_Mutation_p.L113F|CRYL1_uc001ung.2_Missense_Mutation_p.L113F|CRYL1_uc010tcp.1_Missense_Mutation_p.L9F	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	135					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		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)		TCACATGGACCAAGCCAGCAA	0.373													A	21013765	C	A	21013765	3	1	275	1	0	0	0	0	1	0	0	0	3920	593	21	5	574	5	CRYL1	13	21013765	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08		21013765	94156113	888	141953											
CENPJ	55835	broad.mit.edu	37	chr13	25457502	25457502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaactctatgagtttgttgCcatcactgtaaaatttaaaa	5	6	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:25457502C>T	uc001upt.3	-	17	4083	c.3830G>A	c.(3829-3831)GGC>GAC	p.G1277D	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1277					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			ovary(2)	2		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)		GAGTTTGTTGCCATCACTGta	0.308													T	25457502	C	T	25457502	3	4	275	1	0	0	0	0	1	0	0	0	3234	739	26	2	190	2	CENPJ	13	25457502	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4443737	25457502	89712376	889	141954											
POLR1D	51082	broad.mit.edu	37	chr13	28240013	28240013	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagcacagcttccgcgctCgaggttccgccagttactcc	9	16	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:28240013C>T	uc001urp.2	+	3	410	c.292C>T	c.(292-294)CGA>TGA	p.R98*	POLR1D_uc010aam.2_Nonsense_Mutation_p.R70*|POLR1D_uc001urq.2_RNA	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					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|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CTTCCGCGCTCGAGGTTCCGC	0.582													T	28240013	C	T	28240013	4	4	275	1	0	0	0	0	0	1	0	0	12212	876	31	1	682	1	POLR1D	13	28240013	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2782511	28240013	86929865	890	141955											
FRY	10129	broad.mit.edu	37	chr13	32808878	32808878	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gattggtggaggtgataggaGaacatggagatgagattcag	17	2	1	4	rs139625807	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:32808878G>T	uc001utx.2	+	42	6191	c.5695G>T	c.(5695-5697)GAA>TAA	p.E1899*	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		GGTGATAGGAGAACATGGAGA	0.483													T	32808878	G	T	32808878	4	4	275	1	0	0	0	0	0	1	0	0	6063	943	33	5	5861	5	FRY	13	32808878	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4568865	32808878	82361000	891	141956											
FRY	10129	broad.mit.edu	37	chr13	32868598	32868598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctctctattcagacggcGcgtggtccgagcccaccttc	9	17	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:32868598G>A	uc001utx.2	+	60	9170	c.8674G>A	c.(8674-8676)GCG>ACG	p.A2892T	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.A423T|FRY_uc010tdx.1_Missense_Mutation_p.A262T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		TTCAGACGGCGCGTGGTCCGA	0.532													A	32868598	G	A	32868598	3	1	275	1	0	0	0	0	1	0	0	0	6063	1087	38	1	8912	1	FRY	13	32868598	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	59720	32868598	82301280	892	141957											
NBEA	26960	broad.mit.edu	37	chr13	35644128	35644128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgggaaacttgcaagTagcattgcctttacatataa	8	6	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:35644128T>C	uc001uvb.2	+	10	1529	c.1323T>C	c.(1321-1323)AGT>AGC	p.S441S		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	441						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AACTTGCAAGTAGCATTGCCT	0.373													C	35644128	T	C	35644128	2	2	275	1	0	0	0	0	0	0	0	1	10187	1635	57	3		3	NBEA	13	35644128	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2775530	35644128	79525750	893	141958											
NBEA	26960	broad.mit.edu	37	chr13	36125104	36125104	+	Frame_Shift_Del	DEL	A	A	-													ttccctgatcaagcaacagtAaaaaaagttgtctatagctt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:36125103_36125103TA>T	uc021rid.1	+	42	7274	c.6740_6740TA>T	c.(6739-6741)gtafs	p.V2247fs	NBEA_uc021ric.1_Frame_Shift_Del_p.V2244fs|NBEA_uc010abi.3_Frame_Shift_Del_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Del_p.V40fs|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Frame_Shift_Del_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Del_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2247						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)		CAAGCAACAGTAAAAAAAGTT	0.378													-	36125104	A	-	36125104	7	5	275	1	0	1	0	1	0	0	0	0	10187	349	13	0	6911	0	NBEA	13	36125104	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	480976	36125104	79044774	894	141959											
DCLK1	9201	broad.mit.edu	37	chr13	36445472	36445472	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagtggactttaccactcGacattctggggaaagaacaa	10	8	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:36445472G>A	uc001uvf.2	-	5	1062	c.829C>T	c.(829-831)CGA>TGA	p.R277*	uc001uvi.1_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	277					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			stomach(6)|ovary(2)|skin(1)	9		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)		TTTACCACTCGACATTCTGGG	0.473													A	36445472	G	A	36445472	4	1	275	1	0	0	0	0	0	1	0	0	4291	1066	37	1	1416	1	DCLK1	13	36445472	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	320368	36445472	78724406	895	141960											
POSTN	10631	broad.mit.edu	37	chr13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-													ccatcaatgattttggtgtaTtttttaataattggctctaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:38144789_38144789AT>A	uc001uwo.4	-	18	2315	c.2197_2197AT>T	c.(2197-2199)tacfs	p.Y733fs	POSTN_uc010tet.2_Frame_Shift_Del_p.Y234fs|POSTN_uc001uwp.4_Frame_Shift_Del_p.Y676fs|POSTN_uc001uwr.3_Frame_Shift_Del_p.Y706fs|POSTN_uc001uwq.3_Frame_Shift_Del_p.Y676fs|POSTN_uc010teu.1_Frame_Shift_Del_p.Y706fs|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	733					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)		ATTTTGGTGTATTTTTTAATA	0.338													-	38144790	T	-	38144790	7	5	275	1	0	1	0	1	0	0	0	0	12259	1490	52	0	334	0	POSTN	13	38144790	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	1699318	38144790	77025088	896	141961											
POSTN	10631	broad.mit.edu	37	chr13	38166277	38166277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttccattctcatataaccAgggcaacattcatataacac	3	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:38166277A>G	uc001uwo.3	-	3	361	c.243T>C	c.(241-243)CCT>CCC	p.P81P	POSTN_uc001uwp.3_Silent_p.P81P|POSTN_uc001uwr.2_Silent_p.P81P|POSTN_uc001uwq.2_Silent_p.P81P|POSTN_uc010teu.1_Silent_p.P81P|POSTN_uc010tev.1_Silent_p.P81P|POSTN_uc010tew.1_Silent_p.P81P|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	81	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		TCATATAACCAGGGCAACATT	0.303													G	38166277	A	G	38166277	2	3	275	1	0	0	0	0	0	0	0	1	12259	175	7	3		3	POSTN	13	38166277	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	21487	38166277	77003601	897	141962											
NHLRC3	387921	broad.mit.edu	37	chr13	39612627	39612627	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccctttcgtactcaaAgctcgtgcatccagggaggg	11	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:39612627A>T	uc001uxc.2	+	1	173	c.-149A>T	c.(-151--147)AAAGC>AATGC		C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Translation_Start_Site|NHLRC3_uc001uxb.1_Translation_Start_Site|NHLRC3_uc001uxd.2_Translation_Start_Site|NHLRC3_uc001uxe.2_Intron	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3 isoform a							extracellular region				skin(1)	1		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TCGTACTCAAAGCTCGTGCAT	0.597													T	39612627	A	T	39612627	1	4	275	1	0	0	0	0	0	0	0	0	10407	87	3	5		5	NHLRC3	13	39612627	Translation_Start_Site	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1446350	39612627	75557251	898	141963											
AKAP11	11215	broad.mit.edu	37	chr13	42877077	42877077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaagaatgttccctgtgCcaagttcacaagtgaaaaca	7	10	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:42877077C>T	uc001uys.1	+	8	4370	c.4195C>T	c.(4195-4197)CCA>TCA	p.P1399S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1399					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		GTTCCCTGTGCCAAGTTCACA	0.403													T	42877077	C	T	42877077	3	4	275	1	0	0	0	0	1	0	0	0	447	739	26	2	4217	2	AKAP11	13	42877077	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3264450	42877077	72292801	899	141964											
CCDC70	83446	broad.mit.edu	37	chr13	52439693	52439693	+	RNA	DEL	A	A	-													agagatgaaaatttttcgtgAaaaaatagaggacttcaggg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:52439692_52439692GA>G	uc010tgr.1	-	0		c.528_528TC>C			CCDC70_uc001vfu.4_Frame_Shift_Del_p.E60fs|CCDC70_uc021rjv.1_Frame_Shift_Del_p.E60fs			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AATTTTTCGTGAAAAAATAGA	0.498													-	52439693	A	-	52439693	6	5	275	0	1	1	0	1	0	0	0	0	2843	246	9	0		0	CCDC70	13	52439693	RNA	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	9562616	52439693	62730185	900	141965											
OLFM4	10562	broad.mit.edu	37	chr13	53608482	53608484	+	Splice_Site	DEL	GTT	GTT	-													tcaacttgttattatttgcaGttgttttccaatttcaccgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:53608481_53608483AGTT>A	uc001vhl.3	+	2	301	c.205_splice	c.e2-1	p.L69_splice	OLFM4_uc001vhk.2_Splice_Site_p.L69_splice	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	69	Ser-rich.				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)		TATTATTTGCAGTTGTTTTCCAA	0.483													-	53608484	GTT	-	53608482	8	5	275	1	0	1	0	1	0	0	1	0	10855	1043	36	0	210	0	OLFM4	13	53608482	Splice_Site	DEL	GTT	TCGA-HU-A4GX-01A-12D-A25D-08	1168789	53608482	61561396	901	141966											
TBC1D4	9882	broad.mit.edu	37	chr13	75936260	75936260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggatttctggctgccctCgtgaactctccgttgcacgc	11	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:75936260C>T	uc001vjl.1	-	2	1329	c.982G>A	c.(982-984)GAG>AAG	p.E328K	TBC1D4_uc010aer.2_Missense_Mutation_p.E328K|TBC1D4_uc010aes.2_Missense_Mutation_p.E328K	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	328	PID 2.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGGCTGCCCTCGTGAACTCTC	0.602													T	75936260	C	T	75936260	3	4	275	1	0	0	0	0	1	0	0	0	15619	893	31	1	2994	1	TBC1D4	13	75936260	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	22327778	75936260	39233618	902	141967											
LMO7	4008	broad.mit.edu	37	chr13	76393555	76393555	+	Frame_Shift_Del	DEL	A	A	-													gcaaaatggaaagatcgtcgAaaaagttacacttcagatct					rs34219193		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:76393554_76393554GA>G	uc021rkq.1	+	12	2425	c.2090_2090GA>G	c.(2089-2091)cgafs	p.R697fs	LMO7_uc010thv.2_Frame_Shift_Del_p.R415fs|LMO7_uc001vjt.1_Frame_Shift_Del_p.R363fs|LMO7_uc001vjv.3_Frame_Shift_Del_p.R464fs|LMO7_uc010thw.2_Frame_Shift_Del_p.R314fs|LMO7_uc001vjw.1_Frame_Shift_Del_p.R370fs	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	749						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.R415Q(1)|p.R749Q(1)		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)		AAAGATCGTCGAAAAAGTTAC	0.408													-	76393555	A	-	76393555	7	5	275	1	0	1	0	1	0	0	0	0	8855	233	9	0	2301	0	LMO7	13	76393555	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	457295	76393555	38776323	903	141968											
GPR180	160897	broad.mit.edu	37	chr13	95254184	95254184	+	Frame_Shift_Del	DEL	G	G	-													gcagacctggagacgggcatGggggggctgcggctgctggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:95254184delG	uc001vly.2	+	1	81	c.3delG	c.(1-3)ATGfs	p.M1fs	GPR180_uc001vlz.2_Translation_Start_Site|GPR180_uc010afi.2_Translation_Start_Site	NM_180989	NP_851320	Q86V85	GP180_HUMAN	G protein-coupled receptor 180 precursor	1						integral to membrane				breast(1)	1	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AGACGGGCATGGGGGGGCTGC	0.771													-	95254184	G	-	95254184	7	5	275	1	0	1	0	1	0	0	0	0	6676	1348	47	0	5	0	GPR180	13	95254184	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	18860629	95254184	19915694	904	141969											
UGGT2	55757	broad.mit.edu	37	chr13	96684171	96684172	+	Frame_Shift_Del	DEL	CA	CA	-													ttataaattgctaattcttgCacagtttccaaaaactgcca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:96684170_96684171GCA>G	uc001vmt.3	-	1	383_384	c.213_214TGC>C	c.(211-216)gtgcaafs	p.V71fs	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Frame_Shift_Del_p.V71fs	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	71					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	p.Q72R(1)		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						GCTAATTCTTGCACAGTTTCCA	0.248													-	96684172	CA	-	96684171	7	5	275	1	0	1	0	1	0	0	0	0	16939	697	25	0	4489	0	UGGT2	13	96684171	Frame_Shift_Del	DEL	CA	TCGA-HU-A4GX-01A-12D-A25D-08	1429987	96684171	18485707	905	141970											
FARP1	10160	broad.mit.edu	37	chr13	99047712	99047712	+	Frame_Shift_Del	DEL	C	C	-													cccagcagagtaaacctcagCccccgcagccaagcacaggt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:99047712delC	uc001vnj.2	+	13	1732	c.1396delC	c.(1396-1398)CCCfs	p.P466fs	FARP1_uc001vnh.2_Frame_Shift_Del_p.P466fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	466					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TAAACCTCAGCCCCCGCAGCC	0.607													-	99047712	C	-	99047712	7	5	275	1	0	1	0	1	0	0	0	0	5676	739	26	0	1665	0	FARP1	13	99047712	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	2363541	99047712	16122166	906	141971											
ZIC5	85416	broad.mit.edu	37	chr13	100617886	100617886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtcctggagaaggtggCggggacttgcagtgaatctt	18	6	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:100617886C>T	uc001vom.1	-	2	1986	c.1737G>A	c.(1735-1737)CCG>CCA	p.P579P		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	579					cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGAAGGTGGCGGGGACTTGC	0.582													T	100617886	C	T	100617886	2	4	275	1	0	0	0	0	0	0	0	1	17679	755	27	1		1	ZIC5	13	100617886	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1570174	100617886	14551992	907	141972											
ZIC2	7546	broad.mit.edu	37	chr13	100635354	100635354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggcaaagtcttcgcgCgctccgagaacctcaagatc	11	13	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:100635354C>T	uc001von.2	+	1	1036	c.1036C>T	c.(1036-1038)CGC>TGC	p.R346C		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	346	C2H2-type 3.				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				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCTTCGCGCGCTCCGAGAA	0.617													T	100635354	C	T	100635354	3	4	275	1	0	0	0	0	1	0	0	0	17676	768	27	1	1038	1	ZIC2	13	100635354	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	17468	100635354	14534524	908	141973											
ITGBL1	9358	broad.mit.edu	37	chr13	102220101	102220102	+	Missense_Mutation	DNP	GG	GG	TT													gtgtgaccagggatggtatgGggatgcttgccagtacccaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:102220101_102220102GG>TT	uc001vpb.2	+	3	587_588	c.368_369GG>TT	c.(367-369)GGG>GTT	p.G123V	ITGBL1_uc010agb.2_Intron|ITGBL1_uc001vpc.3_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	123	II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGATGGTATGGGGATGCTTGCC	0.431													TT	102220102	GG	TT	102220101	3	4	275	1	0	0	0	0	1	0	0	0	7902	1232	43	5	378	5	ITGBL1	13	102220101	Missense_Mutation	DNP	GG	TCGA-HU-A4GX-01A-12D-A25D-08	1584747	102220101	12949777	909	141974											
FGF14	2259	broad.mit.edu	37	chr13	102568809	102568809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccccacagaccttggcGccgcaacctgcgcttcttga	9	17	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:102568809G>A	uc001vpe.2	-	1	187	c.187C>T	c.(187-189)CGC>TGC	p.R63C	FGF14_uc001vpf.2_Intron	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	63					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGACCTTGGCGCCGCAACCTG	0.652													A	102568809	G	A	102568809	3	1	275	1	0	0	0	0	1	0	0	0	5843	1087	38	1	576	1	FGF14	13	102568809	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	348708	102568809	12601069	910	141975											
C13orf27	93081	broad.mit.edu	37	chr13	103418901	103418901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattttatggggagcttgCattttctgtgccactttctc	10	8	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:103418901C>T	uc001vpo.2	-	6	712	c.534G>A	c.(532-534)ATG>ATA	p.M178I	C13orf27_uc001vpn.2_Missense_Mutation_p.M137I|C13orf27_uc001vpp.2_Missense_Mutation_p.M137I	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	178											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGGAGCTTGCATTTTCTGTG	0.383													T	103418901	C	T	103418901	3	4	275	1	0	0	0	0	1	0	0	0	1723	710	25	2	153	2	C13orf27	13	103418901	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	850092	103418901	11750977	911	141976											
COL4A2	1284	broad.mit.edu	37	chr13	111114502	111114502	+	Frame_Shift_Del	DEL	A	A	-													gctcccggacccaaaggagcAaaaggagattccagaacaat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:111114501_111114501CA>C	uc001vqx.3	+	22	1926	c.1637_1637CA>C	c.(1636-1638)gcafs	p.A546fs		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	546	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)			CCCAAAGGAGCAAAAGGAGAT	0.542													-	111114502	A	-	111114502	7	5	275	1	0	1	0	1	0	0	0	0	3690	117	5	0	1724	0	COL4A2	13	111114502	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	7695601	111114502	4055376	912	141977											
COL4A2	1284	broad.mit.edu	37	chr13	111118411	111118411	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaggccatccagccaggTactctgggaagtgcaggtgg	16	10	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:111118411T>C	uc001vqx.2	+	26	2327	c.2038_splice	c.e26+2	p.G680_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			TCCAGCCAGGTACTCTGGGAA	0.473													C	111118411	T	C	111118411	5	2	275	1	0	0	0	0	0	0	1	0	3690	1652	57	3	2138	3	COL4A2	13	111118411	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	3909	111118411	4051467	913	141978											
GRK1	6011	broad.mit.edu	37	chr13	114322333	114322333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctgccagatgaaggCgaccggcaagctgtatgcct	14	12	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr13:114322333C>T	uc010tkf.1	+	1	740	c.632C>T	c.(631-633)GCG>GTG	p.A211V		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	211	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)			CAGATGAAGGCGACCGGCAAG	0.632													T	114322333	C	T	114322333	3	4	275	1	0	0	0	0	1	0	0	0	6790	768	27	1	634	1	GRK1	13	114322333	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3203922	114322333	847545	914	141979											
OR4K5	79317	broad.mit.edu	37	chr14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-													gacctaatgtagtagacagcTttttttgtgatcttcctcga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					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)		TAGTAGACAGCTTTTTTTGTG	0.418													-	20389294	T	-	20389294	7	5	275	1	0	1	0	1	0	0	0	0	11073	1609	56	0	531	0	OR4K5	14	20389294	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08		20389294	86960246	915	141980											
RNASE10	338879	broad.mit.edu	37	chr14	20979078	20979078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatctaaacacagtcaaaGctgtctgtaacagtcctgtc	8	10	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:20979078G>A	uc010tlj.1	+	1	448	c.448G>A	c.(448-450)GCT>ACT	p.A150T	RNASE10_uc001vxp.2_Missense_Mutation_p.A178T	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	150						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CACAGTCAAAGCTGTCTGTAA	0.468													A	20979078	G	A	20979078	3	1	275	1	0	0	0	0	1	0	0	0	13400	971	34	2	450	2	RNASE10	14	20979078	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	589784	20979078	86370462	916	141981											
RNASE6	6039	broad.mit.edu	37	chr14	21249933	21249933	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacttcatgcttggccTaagcgtctcaccaaggctca	8	14	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:21249933T>C	uc001vye.3	+	2	368	c.75T>C	c.(73-75)CCT>CCC	p.P25P		NM_005615	NP_005606	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6 precursor	25					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		ATGCTTGGCCTAAGCGTCTCA	0.463													C	21249933	T	C	21249933	2	2	275	1	0	0	0	0	0	0	0	1	13407	1509	53	3		3	RNASE6	14	21249933	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	270855	21249933	86099607	917	141982											
OR5AU1	390445	broad.mit.edu	37	chr14	21623789	21623789	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggccaagaagttcaccagGgtctggggcacaaccgtgga	14	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:21623789G>T	uc010tlp.1	-	1	396	c.396C>A	c.(394-396)ACC>ACA	p.T132T		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU,	132	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGTTCACCAGGGTCTGGGGCA	0.512													T	21623789	G	T	21623789	2	4	275	1	0	0	0	0	0	0	0	1	11147	1219	43	5		5	OR5AU1	14	21623789	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	373856	21623789	85725751	918	141983											
MMP14	4323	broad.mit.edu	37	chr14	23312937	23312937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggtgagtcagggttccCcaccaagatgccccctcaac	12	14	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23312937C>T	uc001whc.2	+	6	1103	c.869C>T	c.(868-870)CCC>CTC	p.P290L		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	290	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TCAGGGTTCCCCACCAAGATG	0.572													T	23312937	C	T	23312937	3	4	275	1	0	0	0	0	1	0	0	0	9653	623	22	4	891	4	MMP14	14	23312937	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1689148	23312937	84036603	919	141984											
LRP10	26020	broad.mit.edu	37	chr14	23344969	23344969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacccacttcagcaatgGcaaggctgtcactgtggaga	10	12	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23344969G>A	uc001whd.2	+	5	1365	c.812G>A	c.(811-813)GGC>GAC	p.G271D	LRP10_uc001whe.2_Missense_Mutation_p.G147D	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	271	CUB 2.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TTCAGCAATGGCAAGGCTGTC	0.577													A	23344969	G	A	23344969	3	1	275	1	0	0	0	0	1	0	0	0	8952	1203	42	2	830	2	LRP10	14	23344969	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	32032	23344969	84004571	920	141985											
MYH7	4625	broad.mit.edu	37	chr14	23883076	23883076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaccttgcggaacttGgacaggttggtgttggcttg	15	8	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23883076G>A	uc001wjx.2	-	39	5788	c.5682C>T	c.(5680-5682)TCC>TCT	p.S1894S		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1894	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCGGAACTTGGACAGGTTGG	0.637													A	23883076	G	A	23883076	2	1	275	1	0	0	0	0	0	0	0	1	10039	1335	47	4		4	MYH7	14	23883076	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	538107	23883076	83466464	921	141986											
MYH7	4625	broad.mit.edu	37	chr14	23888767	23888767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcctccgccttgctccGgtgctcattcatctggtctt	9	15	5	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23888767G>A	uc001wjx.2	-	28	3884	c.3778C>T	c.(3778-3780)CGG>TGG	p.R1260W	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1260	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTTGCTCCGGTGCTCATTC	0.577													A	23888767	G	A	23888767	3	1	275	1	0	0	0	0	1	0	0	0	10039	1115	39	1	2081	1	MYH7	14	23888767	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5691	23888767	83460773	922	141987											
NGDN	25983	broad.mit.edu	37	chr14	23945575	23945575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaatccgtgatgctcgGcatccccatgttacccgcca	10	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:23945575G>A	uc001wjy.2	+	8	699	c.672G>A	c.(670-672)CGG>CGA	p.R224R	NGDN_uc001wjz.2_Silent_p.R224R|NGDN_uc001wka.2_RNA	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	224					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGATGCTCGGCATCCCCATG	0.512													A	23945575	G	A	23945575	2	1	275	1	0	0	0	0	0	0	0	1	10393	1190	42	2		2	NGDN	14	23945575	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	56808	23945575	83403965	923	141988											
DHRS4	10901	broad.mit.edu	37	chr14	24424347	24424347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggtggccacgctgcagGgggaggggctgagcgtgacg	22	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:24424347G>T	uc001wla.2	+	2	265	c.232G>T	c.(232-234)GGG>TGG	p.G78W	C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Missense_Mutation_p.G78W|DHRS4_uc001wlb.2_Missense_Mutation_p.G78W|DHRS4_uc010akz.2_Missense_Mutation_p.G78W|DHRS4_uc001wlc.3_Missense_Mutation_p.G78W|DHRS4L2_uc001wld.3_Missense_Mutation_p.G78W|DHRS4L2_uc001wle.3_Missense_Mutation_p.G78W	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	peroxisomal short-chain alcohol dehydrogenase	78						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CACGCTGCAGGGGGAGGGGCT	0.701													T	24424347	G	T	24424347	3	4	275	1	0	0	0	0	1	0	0	0	4492	1232	43	5	238	5	DHRS4	14	24424347	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	478772	24424347	82925193	924	141989											
RABGGTA	5875	broad.mit.edu	37	chr14	24738901	24738901	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatagtcccagcagtgaaCtggaggggagaggtgacagc	16	9	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:24738901C>T	uc001wof.2	-	5	850	c.428_splice	c.e5-1	p.F143_splice	RABGGTA_uc001woe.2_Splice_Site|RABGGTA_uc001wog.2_Splice_Site_p.F143_splice|RABGGTA_uc001woh.2_Splice_Site|RABGGTA_uc001woi.2_Splice_Site	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		CAGCAGTGAACTGGAGGGGAG	0.587													T	24738901	C	T	24738901	5	4	275	1	0	0	0	0	0	0	1	0	12967	579	20	4	1324	4	RABGGTA	14	24738901	Splice_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	314554	24738901	82610639	925	141990											
CMA1	1215	broad.mit.edu	37	chr14	24976674	24976674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtaggccatgtaggggcGggaatgtggcttgcattctg	17	7	1	0	rs138432864	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:24976674G>A	uc001wpp.1	-	2	127	c.97C>T	c.(97-99)CGC>TGC	p.R33C	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	chymase 1, mast cell preproprotein	33	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.0271)		ATGTAGGGGCGGGAATGTGGC	0.507													A	24976674	G	A	24976674	3	1	275	1	0	0	0	0	1	0	0	0	3574	1116	39	1	662	1	CMA1	14	24976674	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	237773	24976674	82372866	926	141991											
GZMH	2999	broad.mit.edu	37	chr14	25077608	25077608	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcttggcctcatggcccccGatgatctcctctgaaaggaa	11	13	3	2	rs149691716	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:25077608G>A	uc001wpr.1	-	2	111	c.66C>T	c.(64-66)ATC>ATT	p.I22I	GZMH_uc010aly.1_Silent_p.I22I|GZMH_uc010alz.1_Silent_p.I22I	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	22	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		CATGGCCCCCGATGATCTCCT	0.537													A	25077608	G	A	25077608	2	1	275	1	0	0	0	0	0	0	0	1	6917	1048	37	1		1	GZMH	14	25077608	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	100934	25077608	82271932	927	141992											
NOVA1	4857	broad.mit.edu	37	chr14	26917309	26917310	+	Frame_Shift_Ins	INS	-	-	T													tgccaggtacgaattctcctINStttttggagatctgtatcct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:26917308_26917309C>CT	uc001wqa.3	-	5	1800_1801	c.1014_1015G>AG	c.(1012-1017)aaaggafs	p.K338fs	NOVA1_uc001wpy.3_Frame_Shift_Ins_p.K460fs|NOVA1_uc001wpz.3_Frame_Shift_Ins_p.K436fs	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	463	Ala-rich.				RNA splicing|locomotory behavior|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)		ACGAATTCTCCTTTTTTGGAGA	0.431													T	26917310	-	T	26917309	7	5	275	1	0	1	1	0	0	0	0	0	10554	1606	56	0	147	0	NOVA1	14	26917309	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1839701	26917309	80432231	928	141993											
PRKD1	5587	broad.mit.edu	37	chr14	30068264	30068264	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcagctgaggctagcaacAcattttctggtttgaggtca	11	8	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:30068264A>C	uc001wqh.2	-	15	2316	c.2135T>G	c.(2134-2136)GTG>GGG	p.V712G		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	712	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGCTAGCAACACATTTTCTGG	0.418													C	30068264	A	C	30068264	3	2	275	1	0	0	0	0	1	0	0	0	12518	159	6	5	619	5	PRKD1	14	30068264	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	3150955	30068264	77281276	929	141994											
G2E3	55632	broad.mit.edu	37	chr14	31067763	31067763	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgagcgttgtgatgttcgaaGatgtcgttgcaaagaagggc	15	5	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:31067763G>T	uc001wqk.2	+	8	864	c.710G>T	c.(709-711)AGA>ATA	p.R237I	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Missense_Mutation_p.R191I	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	237	PHD-type 3.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GATGTTCGAAGATGTCGTTGC	0.398													T	31067763	G	T	31067763	3	4	275	1	0	0	0	0	1	0	0	0	6140	942	33	5	736	5	G2E3	14	31067763	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	999499	31067763	76281777	930	141995											
AKAP6	9472	broad.mit.edu	37	chr14	33293352	33293352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaggggacttttattcGtacttatctctctcatctca	6	9	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:33293352G>A	uc001wrq.2	+	13	6503	c.6333G>A	c.(6331-6333)TCG>TCA	p.S2111S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2111					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		ACTTTTATTCGTACTTATCTC	0.463													A	33293352	G	A	33293352	2	1	275	1	0	0	0	0	0	0	0	1	455	1132	40	1		1	AKAP6	14	33293352	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2225589	33293352	74056188	931	141996											
LRFN5	145581	broad.mit.edu	37	chr14	42356779	42356779	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggagaccctgagcctgcAattcactggatttctcctga	11	11	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:42356779A>G	uc001wvm.2	+	3	2149	c.951A>G	c.(949-951)GCA>GCG	p.A317A	LRFN5_uc010ana.2_Silent_p.A317A	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	317	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGAGCCTGCAATTCACTGGA	0.468										HNSCC(30;0.082)			G	42356779	A	G	42356779	2	3	275	1	0	0	0	0	0	0	0	1	8941	117	5	3		3	LRFN5	14	42356779	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	9063427	42356779	64992761	932	141997											
NID2	22795	broad.mit.edu	37	chr14	52507367	52507367	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagactggttatacatActggagtcggagtagtggta	14	4	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:52507367A>G	uc001wzo.2	-	8	2260	c.2026_splice	c.e8+1	p.T676_splice	NID2_uc010tqs.1_Splice_Site_p.T676_splice|NID2_uc010tqt.1_Splice_Site_p.T676_splice|NID2_uc001wzp.2_Splice_Site_p.T676_splice	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor							basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					gGTTATACATACTGGAGTCGG	0.264													G	52507367	A	G	52507367	5	3	275	1	0	0	0	0	0	0	1	0	10415	405	14	3	2159	3	NID2	14	52507367	Splice_Site	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	10150588	52507367	54842173	933	141998											
KIAA0831	22863	broad.mit.edu	37	chr14	55836376	55836376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttaaaccaggaggtcacCgaggctgctgcagaggagat	14	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:55836376C>T	uc001xbx.1	-	10	1476	c.1440G>A	c.(1438-1440)TCG>TCA	p.S480S	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Silent_p.S367S	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	480					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						AGGAGGTCACCGAGGCTGCTG	0.537													T	55836376	C	T	55836376	2	4	275	1	0	0	0	0	0	0	0	1	8195	639	23	1		1	KIAA0831	14	55836376	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3329009	55836376	51513164	934	141999											
SIX4	51804	broad.mit.edu	37	chr14	61190676	61190676	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggggctcagccctaccgcCgcgccccccgccacttctcg	12	21	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:61190676C>A	uc001xfc.2	-	1	117	c.117G>T	c.(115-117)GCG>GCT	p.A39A	SIX4_uc010app.1_Silent_p.A31A	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	39	Ala-rich.					nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GCCCTACCGCCGCGCCCCCCG	0.687													A	61190676	C	A	61190676	2	1	275	1	0	0	0	0	0	0	0	1	14349	639	23	5		5	SIX4	14	61190676	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5354300	61190676	46158864	935	142000											
SYT16	83851	broad.mit.edu	37	chr14	62551094	62551094	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaaacctcgctgttaacCgagcacctggtaagtgtgag	11	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:62551094C>T	uc001xfu.1	+	5	1812	c.1615C>T	c.(1615-1617)CGA>TGA	p.R539*	SYT16_uc010tse.1_Nonsense_Mutation_p.R97*	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	539	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGCTGTTAACCGAGCACCTGG	0.502													T	62551094	C	T	62551094	4	4	275	1	0	0	0	0	0	1	0	0	15469	644	23	1	1633	1	SYT16	14	62551094	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1360418	62551094	44798446	936	142001											
SYNE2	23224	broad.mit.edu	37	chr14	64430701	64430701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggattcagagaatgataccTactttaaaaagtataatgta	7	4	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:64430701T>C	uc001xgm.2	+	10	1203	c.973T>C	c.(973-975)TAC>CAC	p.Y325H	SYNE2_uc001xgl.2_Missense_Mutation_p.Y325H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	325	Cytoplasmic (Potential).				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			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATGATACCTACTTTAAAAA	0.328													C	64430701	T	C	64430701	3	2	275	1	0	0	0	0	1	0	0	0	15443	1522	53	3	1007	3	SYNE2	14	64430701	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1879607	64430701	42918839	937	142002											
PAPLN	89932	broad.mit.edu	37	chr14	73720653	73720653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgtgcagcctggagccCggagccctggggagaggtca	18	12	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:73720653C>T	uc010ttx.1	+	11	1449	c.1286C>T	c.(1285-1287)CCG>CTG	p.P429L	PAPLN_uc001xnw.3_Missense_Mutation_p.P402L|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.P429L	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	429	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCTGGAGCCCGGAGCCCTGG	0.667													T	73720653	C	T	73720653	3	4	275	1	0	0	0	0	1	0	0	0	11428	652	23	1	1243	1	PAPLN	14	73720653	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9289952	73720653	33628887	938	142003											
FAM161B	145483	broad.mit.edu	37	chr14	74411229	74411229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccttcctcttctggAtccctgcctgccttcgggcc	9	17	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:74411229A>G	uc001xpd.1	-	3	840	c.734T>C	c.(733-735)ATC>ACC	p.I245T		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						CCTCTTCTGGATCCCTGCCTG	0.582													G	74411229	A	G	74411229	3	3	275	1	0	0	0	0	1	0	0	0	5473	333	12	3	1237	3	FAM161B	14	74411229	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	690576	74411229	32938311	939	142004											
YLPM1	56252	broad.mit.edu	37	chr14	75264709	75264709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaaatgagaatctaagCgactctcaacaagagccacc	7	12	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:75264709C>T	uc001xqj.3	+	5	2833	c.2709C>T	c.(2707-2709)AGC>AGT	p.S903S	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAATCTAAGCGACTCTCAAC	0.443													T	75264709	C	T	75264709	2	4	275	1	0	0	0	0	0	0	0	1	17483	767	27	1		1	YLPM1	14	75264709	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	853480	75264709	32084831	940	142005											
ADCK1	57143	broad.mit.edu	37	chr14	78397931	78397931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcaaccacgtgccgcGccagatgctgctcatcttga	8	16	4	2	rs112630340		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:78397931G>A	uc001xui.2	+	10	1376	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	ADCK1_uc001xuj.2_Missense_Mutation_p.R358H|ADCK1_uc001xul.2_Missense_Mutation_p.R133H	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	433	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CACGTGCCGCGCCAGATGCTG	0.592													A	78397931	G	A	78397931	3	1	275	1	0	0	0	0	1	0	0	0	288	1087	38	1	1311	1	ADCK1	14	78397931	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3133222	78397931	28951609	941	142006											
FLRT2	23768	broad.mit.edu	37	chr14	86088481	86088481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatctcacgagcttggagcGtcttattgtggacgggaacc	13	9	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:86088481G>A	uc001xvr.2	+	2	1390	c.623G>A	c.(622-624)CGT>CAT	p.R208H	FLRT2_uc010atd.2_Missense_Mutation_p.R208H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	208	Extracellular (Potential).|LRR 7.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCTTGGAGCGTCTTATTGTG	0.502													A	86088481	G	A	86088481	3	1	275	1	0	0	0	0	1	0	0	0	5939	1145	40	1	625	1	FLRT2	14	86088481	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	7690550	86088481	21261059	942	142007											
FLRT2	23768	broad.mit.edu	37	chr14	86089274	86089274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggagcgcatagtcagCggtgagaagcaacacctgag	14	9	2	2	rs146568257	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:86089274C>T	uc001xvr.2	+	2	2183	c.1416C>T	c.(1414-1416)AGC>AGT	p.S472S	FLRT2_uc010atd.2_Silent_p.S472S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	472	Fibronectin type-III.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATAGTCAGCGGTGAGAAGC	0.517													T	86089274	C	T	86089274	2	4	275	1	0	0	0	0	0	0	0	1	5939	767	27	1		1	FLRT2	14	86089274	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	793	86089274	21260266	943	142008											
KCNK10	54207	broad.mit.edu	37	chr14	88652360	88652360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgctggtccaggcccagcCgccggcgctccatgctgcgg	14	19	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:88652360C>T	uc001xwo.2	-	7	1593	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	KCNK10_uc001xwm.2_Missense_Mutation_p.R384Q|KCNK10_uc001xwn.2_Missense_Mutation_p.R384Q	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	379	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CAGGCCCAGCCGCCGGCGCTC	0.667													T	88652360	C	T	88652360	3	4	275	1	0	0	0	0	1	0	0	0	8059	652	23	1	484	1	KCNK10	14	88652360	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2563086	88652360	18697180	944	142009											
KCNK10	54207	broad.mit.edu	37	chr14	88658653	88658653	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgtccagccctcgatgtaCttaaagatgacagcagggat	11	11	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:88658653C>G	uc001xwo.2	-	5	1225	c.768G>C	c.(766-768)AAG>AAC	p.K256N	KCNK10_uc001xwm.2_Missense_Mutation_p.K261N|KCNK10_uc001xwn.2_Missense_Mutation_p.K261N	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	256					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CCTCGATGTACTTAAAGATGA	0.522													G	88658653	C	G	88658653	3	3	275	1	0	0	0	0	1	0	0	0	8059	564	20	5	860	5	KCNK10	14	88658653	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6293	88658653	18690887	945	142010											
BTBD7	55727	broad.mit.edu	37	chr14	93760390	93760390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacagtgtaatatcactgTtgcatatttttttggtataa	6	5	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:93760390T>C	uc001ybo.2	-	3	1302	c.976A>G	c.(976-978)ACA>GCA	p.T326A	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.T241A|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.T241A|BTBD7_uc001ybr.2_Missense_Mutation_p.T326A	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	326	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AATATCACTGTTGCATATTTT	0.443													C	93760390	T	C	93760390	3	2	275	1	0	0	0	0	1	0	0	0	1546	1725	60	3	2533	3	BTBD7	14	93760390	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	5101737	93760390	13589150	946	142011											
CLMN	79789	broad.mit.edu	37	chr14	95669614	95669614	+	Frame_Shift_Del	DEL	G	G	-													ccaagctgacacagctgcttGgggggctggaagataattcc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:95669613_95669613TG>T	uc001yef.2	-	8	2189	c.2073_2073CA>A	c.(2071-2073)ccafs	p.P691fs		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	691						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)		CACAGCTGCTTGGGGGGCTGG	0.557													-	95669614	G	-	95669614	7	5	275	1	0	1	0	1	0	0	0	0	3542	1348	47	0	956	0	CLMN	14	95669614	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1909224	95669614	11679926	947	142012											
TECPR2	9895	broad.mit.edu	37	chr14	102901068	102901068	+	Frame_Shift_Del	DEL	T	T	-													cccattggcccccaaagcacTttttgtgaagtccccctcct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:102901067_102901067CT>C	uc001ylw.2	+	8	2139	c.1913_1913CT>C	c.(1912-1914)actfs	p.T638fs	TECPR2_uc010awl.3_Frame_Shift_Del_p.T638fs|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	638							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						CCCCAAAGCACTTTTTGTGAA	0.557													-	102901068	T	-	102901068	7	5	275	1	0	1	0	1	0	0	0	0	15741	1596	56	0	1944	0	TECPR2	14	102901068	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	7231454	102901068	4448472	948	142013											
AMN	81693	broad.mit.edu	37	chr14	103390133	103390133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagaaccggaccccgtgCgccggcggcgccgttgagtt	15	15	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:103390133C>T	uc001ymg.3	+	2	162	c.129C>T	c.(127-129)TGC>TGT	p.C43C	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	43	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGACCCCGTGCGCCGGCGGCG	0.716													T	103390133	C	T	103390133	2	4	275	1	0	0	0	0	0	0	0	1	580	776	27	1		1	AMN	14	103390133	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	489065	103390133	3959407	949	142014											
KIAA0284	283638	broad.mit.edu	37	chr14	105353025	105353025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaccgcttgcggctccaGgggatggggagggcctaggg	20	9	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:105353025G>T	uc010axb.2	+	12	2673	c.2449G>T	c.(2449-2451)GGG>TGG	p.G817W	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.G747W|KIAA0284_uc001yps.2_Missense_Mutation_p.G723W|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	817						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TGCGGCTCCAGGGGATGGGGA	0.642													T	105353025	G	T	105353025	3	4	275	1	0	0	0	0	1	0	0	0	8166	1000	35	5	2491	5	KIAA0284	14	105353025	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1962892	105353025	1996515	950	142015											
JAG2	3714	broad.mit.edu	37	chr14	105609917	105609917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatggcggccacgatgGcgtgggccgcgccctggatc	19	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr14:105609917G>A	uc001yqg.2	-	25	3547	c.3143C>T	c.(3142-3144)GCC>GTC	p.A1048V	JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.A452V|JAG2_uc001yqh.2_Missense_Mutation_p.A1010V	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	1048	Extracellular (Potential).				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			lung(3)|breast(2)	5		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)		GGCCACGATGGCGTGGGCCGC	0.662													A	105609917	G	A	105609917	3	1	275	1	0	0	0	0	1	0	0	0	7935	1203	42	2	581	2	JAG2	14	105609917	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	256892	105609917	1739623	951	142016											
CYFIP1	23191	broad.mit.edu	37	chr15	22928513	22928513	+	Splice_Site	DEL	A	A	-													aatttcatgtacttccaggtAaaatggcaaataatctgggg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:22928512_22928512TA>T	uc001yus.3	+	5	491	c.387_splice	c.e5+2	p.Q129_splice	CYFIP1_uc001yut.3_Splice_Site_p.Q129_splice|CYFIP1_uc010aya.1_Splice_Site_p.Q157_splice	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	129					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament 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)		TACTTCCAGGTAAAATGGCAA	0.493													-	22928513	A	-	22928513	8	5	275	1	0	1	0	1	0	0	1	0	4137	377	13	0		0	CYFIP1	15	22928513	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08		22928513	79602879	952	142017											
MKRN3	7681	broad.mit.edu	37	chr15	23811710	23811710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggggagagctgtatgtacCtccatggagacatatgcgac	14	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:23811710C>A	uc001ywh.3	+	1	1257	c.781C>A	c.(781-783)CTC>ATC	p.L261I	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.L261I	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	261	C3H1-type 2.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		CTGTATGTACCTCCATGGAGA	0.542													A	23811710	C	A	23811710	3	1	275	1	0	0	0	0	1	0	0	0	9608	681	24	5	783	5	MKRN3	15	23811710	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	883197	23811710	78719682	953	142018											
C15orf2	23742	broad.mit.edu	37	chr15	24921241	24921241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgtgtcctctccctcGggctgcggccgcccctctgg	14	18	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:24921241G>T	uc001ywo.2	+	1	701	c.227G>T	c.(226-228)CGG>CTG	p.R76L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	76					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCTCCCTCGGGCTGCGGCC	0.706													T	24921241	G	T	24921241	3	4	275	1	0	0	0	0	1	0	0	0	1784	1116	39	5	229	5	C15orf2	15	24921241	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1109531	24921241	77610151	954	142019											
OCA2	4948	broad.mit.edu	37	chr15	28231740	28231740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcatacctacctttacaGcacaataatcgaaaaatccc	2	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28231740G>T	uc001zbh.3	-	12	1342	c.1232C>A	c.(1231-1233)GCT>GAT	p.A411D	OCA2_uc010ayv.2_Missense_Mutation_p.A387D	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	411	Cytoplasmic (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		TACCTTTACAGCACAATAATC	0.289									Oculocutaneous_Albinism				T	28231740	G	T	28231740	3	4	275	1	0	0	0	0	1	0	0	0	10815	971	34	5	1336	5	OCA2	15	28231740	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3310499	28231740	74299652	955	142020											
HERC2	8924	broad.mit.edu	37	chr15	28366498	28366498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatgtgctacctggatGcggttcagctccacgacggg	12	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28366498G>A	uc001zbj.2	-	86	13372	c.13266C>T	c.(13264-13266)CGC>CGT	p.R4422R		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4422					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CTACCTGGATGCGGTTCAGCT	0.537													A	28366498	G	A	28366498	2	1	275	1	0	0	0	0	0	0	0	1	7058	1306	46	2		2	HERC2	15	28366498	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	134758	28366498	74164894	956	142021											
HERC2	8924	broad.mit.edu	37	chr15	28377925	28377925	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccgccagcagcaacatcGaccacttcaattcctctcag	6	17	2	0	rs140970725	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28377925G>A	uc001zbj.2	-	80	12388	c.12282C>T	c.(12280-12282)GTC>GTT	p.V4094V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4094	RCC1 15.				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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CAGCAACATCGACCACTTCAA	0.547													A	28377925	G	A	28377925	2	1	275	1	0	0	0	0	0	0	0	1	7058	1045	37	1		1	HERC2	15	28377925	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	11427	28377925	74153467	957	142022											
HERC2	8924	broad.mit.edu	37	chr15	28419605	28419605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggctcgtggacagagggCgtggccacatccacagttgt	15	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28419605C>T	uc001zbj.2	-	65	10099	c.9993G>A	c.(9991-9993)ACG>ACA	p.T3331T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3331					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		GGACAGAGGGCGTGGCCACAT	0.537													T	28419605	C	T	28419605	2	4	275	1	0	0	0	0	0	0	0	1	7058	755	27	1		1	HERC2	15	28419605	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	41680	28419605	74111787	958	142023											
HERC2	8924	broad.mit.edu	37	chr15	28501349	28501349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgactgcacggtgctcagcaCgcccgcactgctggccaggg	14	16	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:28501349C>T	uc001zbj.2	-	18	2738	c.2632G>A	c.(2632-2634)GTG>ATG	p.V878M	HERC2_uc001zbl.1_Missense_Mutation_p.V573M	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	878					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		GTGCTCAGCACGCCCGCACTG	0.667													T	28501349	C	T	28501349	3	4	275	1	0	0	0	0	1	0	0	0	7058	536	19	1	12176	1	HERC2	15	28501349	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	81744	28501349	74030043	959	142024											
TJP1	7082	broad.mit.edu	37	chr15	29997900	29997900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatgcctcgggctgtggCcaccacagtatgaccatctt	9	12	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:29997900C>T	uc001zcr.2	-	26	5375	c.4900G>A	c.(4900-4902)GCC>ACC	p.A1634T	TJP1_uc010azl.2_Missense_Mutation_p.A1622T|TJP1_uc001zcq.2_Missense_Mutation_p.A1558T|TJP1_uc001zcs.2_Missense_Mutation_p.A1554T	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1634	ZU5.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		CGGGCTGTGGCCACCACAGTA	0.463													T	29997900	C	T	29997900	3	4	275	1	0	0	0	0	1	0	0	0	15926	739	26	2	358	2	TJP1	15	29997900	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1496551	29997900	72533492	960	142025											
TRPM1	4308	broad.mit.edu	37	chr15	31355443	31355443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagacgatggacaccacGttagggcccccctccaccac	8	18	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:31355443G>A	uc001zfm.2	-	7	905	c.777C>T	c.(775-777)AAC>AAT	p.N259N	TRPM1_uc010azy.2_Silent_p.N172N|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	259	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		TGGACACCACGTTAGGGCCCC	0.612													A	31355443	G	A	31355443	2	1	275	1	0	0	0	0	0	0	0	1	16582	1136	40	1		1	TRPM1	15	31355443	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1357543	31355443	71175949	961	142026											
BAHD1	22893	broad.mit.edu	37	chr15	40754413	40754413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgtgtccagcgcccaCgccctcgccgccgccgtcgc	11	22	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:40754413C>T	uc001zlu.2	+	3	1806	c.1735C>T	c.(1735-1737)CGC>TGC	p.R579C	BAHD1_uc001zlt.2_Missense_Mutation_p.R578C|BAHD1_uc010bbp.1_Missense_Mutation_p.R578C|BAHD1_uc001zlv.2_Missense_Mutation_p.R579C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	579	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-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;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAGCGCCCACGCCCTCGCCG	0.642													T	40754413	C	T	40754413	3	4	275	1	0	0	0	0	1	0	0	0	1297	536	19	1	1741	1	BAHD1	15	40754413	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9398970	40754413	61776979	962	142027											
CHAC1	79094	broad.mit.edu	37	chr15	41247845	41247845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccttgaatacttgctgcGtctggcagacttcatgcagc	9	12	2	2	rs144026007		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:41247845G>A	uc001znh.2	+	3	688	c.668G>A	c.(667-669)CGT>CAT	p.R223H	CHAC1_uc010uct.1_Missense_Mutation_p.R178H	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	223					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		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)		TACTTGCTGCGTCTGGCAGAC	0.642													A	41247845	G	A	41247845	3	1	275	1	0	0	0	0	1	0	0	0	3308	1145	40	1	678	1	CHAC1	15	41247845	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	493432	41247845	61283547	963	142028											
INO80	54617	broad.mit.edu	37	chr15	41276449	41276449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaatgaaggagtcatctccGtcagcagagaggttggagtt	13	7	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:41276449G>A	uc001zni.2	-	33	4236	c.4023C>T	c.(4021-4023)GAC>GAT	p.D1341D	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1341	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			ovary(2)|pancreas(1)|skin(1)	4						AGTCATCTCCGTCAGCAGAGA	0.498													A	41276449	G	A	41276449	2	1	275	1	0	0	0	0	0	0	0	1	7746	1136	40	1		1	INO80	15	41276449	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	28604	41276449	61254943	964	142029											
TYRO3	7301	broad.mit.edu	37	chr15	41864674	41864674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagggctaaaggccgtcTccccatccccatggtcatct	10	15	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:41864674T>G	uc001zof.1	+	15	2011	c.1787T>G	c.(1786-1788)CTC>CGC	p.L596R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	596	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		AAAGGCCGTCTCCCCATCCCC	0.592													G	41864674	T	G	41864674	3	3	275	1	0	0	0	0	1	0	0	0	16811	1551	54	5	1845	5	TYRO3	15	41864674	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	588225	41864674	60666718	965	142030											
MAPKBP1	23005	broad.mit.edu	37	chr15	42110453	42110453	+	Frame_Shift_Del	DEL	T	T	-													ttctgacaagaatctctccaTttttgacttctcctcaggcg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:42110452_42110452AT>A	uc001zok.4	+	18	2345	c.2059_2059AT>A	c.(2059-2061)attfs	p.I687fs	MAPKBP1_uc010bci.3_Frame_Shift_Del_p.I681fs|MAPKBP1_uc010udb.2_Frame_Shift_Del_p.I520fs|MAPKBP1_uc001zoj.4_Frame_Shift_Del_p.I681fs|MAPKBP1_uc010bcj.3_Frame_Shift_Del_p.I188fs|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Frame_Shift_Del_p.I188fs	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	687										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)		GAATCTCTCCATTTTTGACTT	0.542													-	42110453	T	-	42110453	7	5	275	1	0	1	0	1	0	0	0	0	9292	1493	52	0	2130	0	MAPKBP1	15	42110453	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	245779	42110453	60420939	966	142031											
TGM5	9333	broad.mit.edu	37	chr15	43531380	43531380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgctcatctcctgaggTgtggcgtccagcacctgcca	11	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:43531380T>C	uc001zrd.1	-	8	1094	c.1086A>G	c.(1084-1086)ACA>ACG	p.T362T	TGM5_uc001zrc.1_Silent_p.T19T|TGM5_uc001zre.1_Silent_p.T280T	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	362					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		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)	TCTCCTGAGGTGTGGCGTCCA	0.612													C	43531380	T	C	43531380	2	2	275	1	0	0	0	0	0	0	0	1	15830	1683	59	3		3	TGM5	15	43531380	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1420927	43531380	59000012	967	142032											
FRMD5	84978	broad.mit.edu	37	chr15	44198148	44198148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcataatccccaatctcCgctttcaaaaggaaggtgga	9	10	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:44198148C>T	uc001ztl.2	-	6	606	c.429G>A	c.(427-429)GCG>GCA	p.A143A	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Silent_p.A54A|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	143	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		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)		CCCCAATCTCCGCTTTCAAAA	0.418													T	44198148	C	T	44198148	2	4	275	1	0	0	0	0	0	0	0	1	6053	666	23	1		1	FRMD5	15	44198148	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	666768	44198148	58333244	968	142033											
SPG11	80208	broad.mit.edu	37	chr15	44951449	44951449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatttgttgatgaacagTaatgatgtgttattgtgaaa	9	3	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:44951449T>C	uc001ztx.2	-	3	526	c.495A>G	c.(493-495)TTA>TTG	p.L165L	SPG11_uc010ueh.1_Silent_p.L165L|SPG11_uc010uei.1_Silent_p.L165L|SPG11_uc001zua.1_Silent_p.L165L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	165	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		TGATGAACAGTAATGATGTGT	0.343													C	44951449	T	C	44951449	2	2	275	1	0	0	0	0	0	0	0	1	15040	1635	57	3		3	SPG11	15	44951449	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	753301	44951449	57579943	969	142034											
B2M	567	broad.mit.edu	37	chr15	45003781	45003784	+	Frame_Shift_Del	DEL	CTCT	CTCT	-													ccttagctgtgctcgcgctaCtctctctttctggcctggag					rs11553044		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:45003780_45003783ACTCT>A	uc001zuc.3	+	0	96_99	c.36_39ACTCT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					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	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(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)		TGCTCGCGCTACTCTCTCTTTCTG	0.613													-	45003784	CTCT	-	45003781	7	5	275	1	0	1	0	1	0	0	0	0	1244	565	20	0	39	0	B2M	15	45003781	Frame_Shift_Del	DEL	CTCT	TCGA-HU-A4GX-01A-12D-A25D-08	52332	45003781	57527611	970	142035											
USP50	373509	broad.mit.edu	37	chr15	50836810	50836810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcggtgatatacttcccGgtgagaaagtattccaccag	11	9	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:50836810G>A	uc001zyq.3	-	2	402	c.222C>T	c.(220-222)ACC>ACT	p.T74T		NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	ubiquitin specific protease 50	74					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			lung(1)|breast(1)	2				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TATACTTCCCGGTGAGAAAGT	0.537													A	50836810	G	A	50836810	2	1	275	1	0	0	0	0	0	0	0	1	17079	1103	39	1		1	USP50	15	50836810	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5833029	50836810	51694582	971	142036											
CYP19A1	1588	broad.mit.edu	37	chr15	51514698	51514698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacagactgtgaccataCgaacaaggccggggcctgac	12	13	0	3	rs76174961		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:51514698C>T	uc001zyz.3	-	6	727	c.476G>A	c.(475-477)CGT>CAT	p.R159H	CYP19A1_uc001zza.3_Missense_Mutation_p.R159H|CYP19A1_uc001zzb.2_Missense_Mutation_p.R159H|CYP19A1_uc001zzd.2_Missense_Mutation_p.R159H|CYP19A1_uc010bey.1_Missense_Mutation_p.R159H	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	159					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				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)	TGTGACCATACGAACAAGGCC	0.512													T	51514698	C	T	51514698	3	4	275	1	0	0	0	0	1	0	0	0	4148	536	19	1	1059	1	CYP19A1	15	51514698	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	677888	51514698	51016694	972	142037											
GLDN	342035	broad.mit.edu	37	chr15	51689791	51689791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgttcaacggccagtgCccaggtcaccacctctcccc	8	18	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:51689791C>T	uc002aba.2	+	6	982	c.813C>T	c.(811-813)TGC>TGT	p.C271C	GLDN_uc002abb.2_Silent_p.C147C	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	271	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACGGCCAGTGCCCAGGTCACC	0.607													T	51689791	C	T	51689791	2	4	275	1	0	0	0	0	0	0	0	1	6434	747	26	2		2	GLDN	15	51689791	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	175093	51689791	50841601	973	142038											
MYO5A	4644	broad.mit.edu	37	chr15	52668596	52668596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgatggctgccttccGcatgcgtaggtacttctttc	11	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:52668596G>A	uc002aby.2	-	19	2612	c.2368C>T	c.(2368-2370)CGG>TGG	p.R790W	MYO5A_uc002abx.3_Missense_Mutation_p.R790W|MYO5A_uc010uge.1_Missense_Mutation_p.R659W	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	790	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCTGCCTTCCGCATGCGTAGG	0.542													A	52668596	G	A	52668596	3	1	275	1	0	0	0	0	1	0	0	0	10078	1086	38	1	3291	1	MYO5A	15	52668596	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	978805	52668596	49862796	974	142039											
ANXA2	302	broad.mit.edu	37	chr15	60641357	60641357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacttcactgcgggagaCcatgattctgatcaggacct	10	12	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:60641357C>T	uc002agn.2	-	13	1037	c.877G>A	c.(877-879)GTC>ATC	p.V293I	ANXA2_uc002agk.2_Missense_Mutation_p.V293I|ANXA2_uc002agl.2_Missense_Mutation_p.V293I|ANXA2_uc002agm.2_Missense_Mutation_p.V311I|ANXA2_uc010uhd.1_RNA	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	293	Annexin 4.			V -> A (in Ref. 6; AAH23990).	angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTGCGGGAGACCATGATTCTG	0.438													T	60641357	C	T	60641357	3	4	275	1	0	0	0	0	1	0	0	0	718	507	18	4	150	4	ANXA2	15	60641357	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	7972761	60641357	41890035	975	142040											
NARG2	79664	broad.mit.edu	37	chr15	60741880	60741880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctgtaggagcatctGtcatgttaggtactgtggaa	16	5	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:60741880G>A	uc002agp.2	-	10	1521	c.1286C>T	c.(1285-1287)ACA>ATA	p.T429I	NARG2_uc002ago.2_Missense_Mutation_p.T292I|NARG2_uc002agq.3_Missense_Mutation_p.T97I	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	429						nucleus				ovary(1)|lung(1)	2						AGGAGCATCTGTCATGTTAGG	0.423													A	60741880	G	A	60741880	3	1	275	1	0	0	0	0	1	0	0	0	10169	1377	48	4	1690	4	NARG2	15	60741880	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	100523	60741880	41789512	976	142041											
FBXL22	283807	broad.mit.edu	37	chr15	63889654	63889656	+	In_Frame_Del	DEL	CTC	CTC	-													gagtgcctgctgcacctcttCtccttcctagacaaggacag					rs141944790	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:63889653_63889655TCTC>T	uc002amn.3	+	0	102_104	c.44_46TCTC>T	c.(43-48)ttctcc>tTcc	p.S16del	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_In_Frame_Del_p.S16del	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	16	F-box.									lung(4)	4						CTGCACCTCTTCTCCTTCCTAGA	0.626													-	63889656	CTC	-	63889654	7	5	275	1	0	1	0	1	0	0	0	0	5719	912	32	0	47	0	FBXL22	15	63889654	In_Frame_Del	DEL	CTC	TCGA-HU-A4GX-01A-12D-A25D-08	3147774	63889654	38641738	977	142042											
IGDCC4	57722	broad.mit.edu	37	chr15	65702608	65702608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcaaagcgagctgtcccGttctcctccaccgtctgaga	8	16	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:65702608G>A	uc002aou.1	-	3	681	c.471C>T	c.(469-471)AAC>AAT	p.N157N		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	157	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GAGCTGTCCCGTTCTCCTCCA	0.577													A	65702608	G	A	65702608	2	1	275	1	0	0	0	0	0	0	0	1	7569	1136	40	1		1	IGDCC4	15	65702608	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1812954	65702608	36828784	978	142043											
SLC24A1	9187	broad.mit.edu	37	chr15	65916520	65916520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttactgggaatgttgatcatCggttctacttatcagcacct	8	9	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:65916520C>T	uc010ujf.1	+	2	389	c.102C>T	c.(100-102)ATC>ATT	p.I34I	SLC24A1_uc010ujd.1_Silent_p.I34I|SLC24A1_uc010uje.1_Silent_p.I34I|SLC24A1_uc010ujg.1_Silent_p.I34I|SLC24A1_uc010ujh.1_Silent_p.I34I	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	34	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						TGTTGATCATCGGTTCTACTT	0.532													T	65916520	C	T	65916520	2	4	275	1	0	0	0	0	0	0	0	1	14465	874	31	1		1	SLC24A1	15	65916520	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	213912	65916520	36614872	979	142044											
DIS3L	115752	broad.mit.edu	37	chr15	66607510	66607510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgagaatgactgtgaCgacaaggcttcgggcgagtc	15	8	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:66607510C>T	uc010ujm.1	+	7	966	c.951C>T	c.(949-951)GAC>GAT	p.D317D	DIS3L_uc010ujl.1_Missense_Mutation_p.T4M|DIS3L_uc002app.2_Silent_p.D234D|DIS3L_uc002apq.2_Silent_p.D317D|DIS3L_uc010bho.2_Silent_p.D183D	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	317					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						ATGACTGTGACGACAAGGCTT	0.498													T	66607510	C	T	66607510	2	4	275	1	0	0	0	0	0	0	0	1	4536	535	19	1		1	DIS3L	15	66607510	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	690990	66607510	35923882	980	142045											
DIS3L	115752	broad.mit.edu	37	chr15	66618407	66618407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaagctgaccgacataGctcgccatgtcagagctaaa	10	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:66618407G>T	uc010ujm.1	+	12	1921	c.1906G>T	c.(1906-1908)GCT>TCT	p.A636S	DIS3L_uc010ujl.1_Missense_Mutation_p.A266S|DIS3L_uc002app.2_Missense_Mutation_p.A553S|DIS3L_uc002apq.2_Missense_Mutation_p.A636S|DIS3L_uc010bho.2_Missense_Mutation_p.A502S	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	636					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						GACCGACATAGCTCGCCATGT	0.488													T	66618407	G	T	66618407	3	4	275	1	0	0	0	0	1	0	0	0	4536	971	34	5	1952	5	DIS3L	15	66618407	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	10897	66618407	35912985	981	142046											
ITGA11	22801	broad.mit.edu	37	chr15	68599992	68599992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggttggggaccagccGtatattgcagttgatggaga	14	7	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:68599992G>A	uc002ari.2	-	27	3304	c.3217C>T	c.(3217-3219)CGG>TGG	p.R1073W	ITGA11_uc010bib.2_Missense_Mutation_p.R1074W	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1073	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	GGGACCAGCCGTATATTGCAG	0.547													A	68599992	G	A	68599992	3	1	275	1	0	0	0	0	1	0	0	0	7874	1144	40	1	365	1	ITGA11	15	68599992	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1981585	68599992	33931400	982	142047											
CORO2B	10391	broad.mit.edu	37	chr15	69011069	69011069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgggctggatgtgtcaGcctgcgaggtgttccgcttc	15	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:69011069G>A	uc002arj.3	+	9	1029	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	CORO2B_uc010bic.2_Missense_Mutation_p.A329T|CORO2B_uc002ark.2_Missense_Mutation_p.A101T	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	334					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						GGATGTGTCAGCCTGCGAGGT	0.602													A	69011069	G	A	69011069	3	1	275	1	0	0	0	0	1	0	0	0	3757	971	34	2	1034	2	CORO2B	15	69011069	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	411077	69011069	33520323	983	142048											
NOX5	79400	broad.mit.edu	37	chr15	69328220	69328222	+	In_Frame_Del	DEL	CTC	CTC	-													gtgtcgctctgctgctgctgCtcctcctcatgttcatctgc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:69328219_69328221GCTC>G	uc002ars.2	+	6	1172_1174	c.1131_1133GCTC>G	c.(1129-1134)ctgctc>ctGc	p.377_378LL>L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_In_Frame_Del_p.331_332LL>L|NOX5_uc002arp.2_In_Frame_Del_p.359_360LL>L|NOX5_uc010bid.2_In_Frame_Del_p.342_343LL>L|NOX5_uc010bie.2_In_Frame_Del_p.177_178LL>L|NOX5_uc002arr.2_In_Frame_Del_p.349_350LL>L|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	377	Ferric oxidoreductase.|Poly-Leu.				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	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.L359L(1)		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						TGCTGCTGCTGCTCCTCCTCATG	0.626													-	69328222	CTC	-	69328220	7	5	275	1	0	1	0	1	0	0	0	0	10559	797	28	0	1191	0	NOX5	15	69328220	In_Frame_Del	DEL	CTC	TCGA-HU-A4GX-01A-12D-A25D-08	317151	69328220	33203172	984	142049											
KIF23	9493	broad.mit.edu	37	chr15	69728003	69728003	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgtagatggttccatatCgagattcaaagttaacccat	7	8	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:69728003C>T	uc002asb.2	+	12	1282	c.1165C>T	c.(1165-1167)CGA>TGA	p.R389*	KIF23_uc002asc.2_Nonsense_Mutation_p.R389*|KIF23_uc010bii.2_Nonsense_Mutation_p.R279*|KIF23_uc010ukc.1_Nonsense_Mutation_p.R206*|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	389					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						GGTTCCATATCGAGATTCAAA	0.388													T	69728003	C	T	69728003	4	4	275	1	0	0	0	0	0	1	0	0	8291	876	31	1	1211	1	KIF23	15	69728003	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	399783	69728003	32803389	985	142050											
LRRC49	54839	broad.mit.edu	37	chr15	71272472	71272473	+	Frame_Shift_Ins	INS	-	-	A													gtatggcatctgttttagccINSaaaaaagaggaagagaagaa					rs34188459		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:71272472_71272473insA	uc002asw.2	+	10	1201_1202	c.954_955insA	c.(952-957)GCCAAAfs	p.A318fs	LRRC49_uc002asu.2_Frame_Shift_Ins_p.A308fs|LRRC49_uc002asx.2_Frame_Shift_Ins_p.A274fs|LRRC49_uc010ukf.1_Frame_Shift_Ins_p.A323fs|LRRC49_uc002asy.2_Frame_Shift_Ins_p.A24fs|LRRC49_uc002asz.2_Frame_Shift_Ins_p.A290fs	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	318_319	Potential.					cytoplasm|microtubule				ovary(1)	1						CTGTTTTAGCCAAAAAAGAGGA	0.356													A	71272473	-	A	71272472	7	5	275	1	0	1	1	0	0	0	0	0	9006	581	21	0	992	0	LRRC49	15	71272472	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1544469	71272472	31258920	986	142051	757	2									
LRRC49	54839	broad.mit.edu	37	chr15	71272473	71272474	+	Frame_Shift_Ins	INS	-	-	A													tatggcatctgttttagccaINSaaaaagaggaagagaagaag					rs34188459		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:71272472_71272473C>CA	uc010ukf.2	+	9	1275_1276	c.969_970C>CA	c.(967-972)gccaaafs	p.A323fs	LRRC49_uc002asu.3_Frame_Shift_Ins_p.A308fs|LRRC49_uc002asx.3_Frame_Shift_Ins_p.A274fs|LRRC49_uc002asw.3_Frame_Shift_Ins_p.A318fs|LRRC49_uc002asy.3_Frame_Shift_Ins_p.A24fs|LRRC49_uc002asz.3_Frame_Shift_Ins_p.A290fs	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	318						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTGTTTTAGCCAAAAAAGAGGA	0.356													A	71272474	-	A	71272473	7	5	275	1	0	1	1	0	0	0	0	0	9006	131	5	0	993	0	LRRC49	15	71272473	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1	71272473	31258919	987	142052	757	2									
THSD4	79875	broad.mit.edu	37	chr15	71952908	71952908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaggctccgacaaagtcGtggacaaatgtggggtgtgt	14	7	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:71952908G>A	uc002atb.1	+	7	1271	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M	THSD4_uc002atd.1_Missense_Mutation_p.V72M|THSD4_uc010ukg.1_Missense_Mutation_p.V38M|THSD4_uc002ate.2_Missense_Mutation_p.V38M	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	398						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CGACAAAGTCGTGGACAAATG	0.517													A	71952908	G	A	71952908	3	1	275	1	0	0	0	0	1	0	0	0	15875	1145	40	1	1218	1	THSD4	15	71952908	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	680435	71952908	30578484	988	142053											
LMAN1L	79748	broad.mit.edu	37	chr15	75108770	75108770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctggggacctgcaggcCgtgtggtacacccggggcag	20	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:75108770C>T	uc002ayt.1	+	3	335	c.333C>T	c.(331-333)GCC>GCT	p.A111A	LMAN1L_uc010bkd.2_Silent_p.A39A|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Silent_p.A111A	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	111	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						ACCTGCAGGCCGTGTGGTACA	0.667													T	75108770	C	T	75108770	2	4	275	1	0	0	0	0	0	0	0	1	8837	639	23	1		1	LMAN1L	15	75108770	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3155862	75108770	27422622	989	142054											
IREB2	3658	broad.mit.edu	37	chr15	78762935	78762935	+	Frame_Shift_Del	DEL	T	T	-													gaaatcgagagaggcttcagTtttttaaggtataaatgatt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:78762934_78762934GT>G	uc002bdr.2	+	5	852	c.690_690GT>G	c.(688-690)cagfs	p.Q230fs	IREB2_uc010unb.1_Intron|IREB2_uc002bdq.3_Frame_Shift_Del_p.Q230fs	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	230							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)		AGAGGCTTCAGTTTTTTAAGG	0.289													-	78762935	T	-	78762935	7	5	275	1	0	1	0	1	0	0	0	0	7826	1725	60	0	713	0	IREB2	15	78762935	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	3654165	78762935	23768457	990	142055											
AGPHD1	123688	broad.mit.edu	37	chr15	78825552	78825552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatttttctactttcagGtatcaatcacggagatctta	6	8	5	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:78825552G>A	uc010unc.1	+	5	775	c.662G>A	c.(661-663)TGT>TAT	p.C221Y	AGPHD1_uc010ble.2_Intron	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	221						cytoplasm	kinase activity				0						CTACTTTCAGGTATCAATCAC	0.353													A	78825552	G	A	78825552	3	1	275	1	0	0	0	0	1	0	0	0	393	1275	44	4	676	4	AGPHD1	15	78825552	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	62617	78825552	23705840	991	142056											
ADAMTS7	11173	broad.mit.edu	37	chr15	79051796	79051796	+	Frame_Shift_Del	DEL	G	G	-													acccgctgatggcctcgggaGggggcgccgtggctgggcgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:79051795_79051795AG>A	uc002bej.4	-	23	5240	c.5029_5029CT>T	c.(5029-5031)tccfs	p.S1677fs		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1677					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						TGGCCTCGGGAGGGGGCGCCG	0.731													-	79051796	G	-	79051796	7	5	275	1	0	1	0	1	0	0	0	0	271	987	35	0	36	0	ADAMTS7	15	79051796	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	226244	79051796	23479596	992	142057											
FAH	2184	broad.mit.edu	37	chr15	80478482	80478482	+	Frame_Shift_Del	DEL	G	G	-													tctgttccagggtactgccaGggggatggttaccgcatcgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:80478481_80478481AG>A	uc002bfm.2	+	13	1354	c.1190_1190AG>A	c.(1189-1191)cagfs	p.Q397fs	FAH_uc002bfn.2_Frame_Shift_Del_p.Q327fs	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	397					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGTACTGCCAGGGGGATGGT	0.567									Tyrosinemia, type 1				-	80478482	G	-	80478482	7	5	275	1	0	1	0	1	0	0	0	0	5371	991	35	0	1245	0	FAH	15	80478482	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1426686	80478482	22052910	993	142058											
KIAA1199	57214	broad.mit.edu	37	chr15	81218066	81218066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacggggcctggctgcGcggcggggatgtgtggctgg	22	10	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:81218066G>A	uc002bfw.1	+	18	2650	c.2390G>A	c.(2389-2391)CGC>CAC	p.R797H	KIAA1199_uc010unn.1_Missense_Mutation_p.R797H	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	797										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GCCTGGCTGCGCGGCGGGGAT	0.662													A	81218066	G	A	81218066	3	1	275	1	0	0	0	0	1	0	0	0	8213	1087	38	1	2456	1	KIAA1199	15	81218066	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	739584	81218066	21313326	994	142059											
ZNF710	374655	broad.mit.edu	37	chr15	90622982	90622982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaacgcctacagctatgCgagcgtggacagcagcgccg	15	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:90622982C>T	uc002bov.1	+	5	2039	c.1916C>T	c.(1915-1917)GCG>GTG	p.A639V		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			TACAGCTATGCGAGCGTGGAC	0.577													T	90622982	C	T	90622982	3	4	275	1	0	0	0	0	1	0	0	0	18112	768	27	1	1930	1	ZNF710	15	90622982	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9404916	90622982	11908410	995	142060											
FES	2242	broad.mit.edu	37	chr15	91433191	91433191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacacccacccccgggagCggtgagtgggcccctgcctg	14	16	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:91433191C>T	uc002bpv.2	+	8	1144	c.1048C>T	c.(1048-1050)CGG>TGG	p.R350W	FES_uc010uqj.1_Missense_Mutation_p.R292W|FES_uc010uqk.1_Missense_Mutation_p.R332W|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.R292W|FES_uc002bpx.2_Missense_Mutation_p.R350W|FES_uc002bpy.2_Missense_Mutation_p.R292W	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	350	Potential.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCCCGGGAGCGGTGAGTGGG	0.652													T	91433191	C	T	91433191	3	4	275	1	0	0	0	0	1	0	0	0	5820	782	27	1	1074	1	FES	15	91433191	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	810209	91433191	11098201	996	142061											
SV2B	9899	broad.mit.edu	37	chr15	91769717	91769717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaatggacagccttcGgggccagacagacctgatgg	13	12	0	4	rs35575298		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:91769717G>A	uc002bqv.2	+	1	615	c.224G>A	c.(223-225)CGG>CAG	p.R75Q	SV2B_uc002bqt.2_Missense_Mutation_p.R75Q|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	75	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GACAGCCTTCGGGGCCAGACA	0.587													A	91769717	G	A	91769717	3	1	275	1	0	0	0	0	1	0	0	0	15415	1116	39	1	226	1	SV2B	15	91769717	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	336526	91769717	10761675	997	142062											
ALDH1A3	220	broad.mit.edu	37	chr15	101433160	101433160	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcttccagatgacaacgtCgtgtgcttcaccaggcatga	9	13	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:101433160C>T	uc002bwn.3	+	5	590	c.486C>T	c.(484-486)GTC>GTT	p.V162V	ALDH1A3_uc010bpb.2_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	162					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	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)	ATGACAACGTCGTGTGCTTCA	0.483													T	101433160	C	T	101433160	2	4	275	1	0	0	0	0	0	0	0	1	492	871	31	1		1	ALDH1A3	15	101433160	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9663443	101433160	1098232	998	142063											
LRRK1	79705	broad.mit.edu	37	chr15	101602777	101602777	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacctgtctgcctctgcAggaccagaaaatctacatct	9	12	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr15:101602777A>C	uc002bwr.2	+	31	5117	c.4798_splice	c.e31-2	p.D1600_splice	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_Splice_Site|LRRK1_uc002bws.2_Splice_Site	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1						small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	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)			CTGCCTCTGCAGGACCAGAAA	0.547													C	101602777	A	C	101602777	5	2	275	1	0	0	0	0	0	0	1	0	9032	202	7	5	4914	5	LRRK1	15	101602777	Splice_Site	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	169617	101602777	928615	999	142064											
WDR90	197335	broad.mit.edu	37	chr16	709106	709107	+	Frame_Shift_Ins	INS	-	-	C													gaccaaagcttccccggggcINSccccccagcctgcaagacag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:709105_709106G>GC	uc002cii.1	+	24	3085_3086	c.3031_3032G>GC	c.(3031-3033)gccfs	p.A1011fs	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Frame_Shift_Ins_p.A538fs|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Frame_Shift_Ins_p.A185fs|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTTCCCCGGGGCCCCCCCAGCC	0.658													C	709107	-	C	709106	7	5	275	1	0	1	1	0	0	0	0	0	17334	739	26	0	3130	0	WDR90	16	709106	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08		709106	89645647	1000	142065											
MSLNL	401827	broad.mit.edu	37	chr16	830214	830214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagcaggggccggggcatCcgggtcccagggtggacctg	21	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:830214C>T	uc002cjz.1	-	3	787	c.787G>A	c.(787-789)GAT>AAT	p.D263N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GCCGGGGCATCCGGGTCCCAG	0.677													T	830214	C	T	830214	3	4	275	1	0	0	0	0	1	0	0	0	9882	855	30	4	2430	4	MSLNL	16	830214	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	121108	830214	89524539	1001	142066											
TSC2	7249	broad.mit.edu	37	chr16	2098716	2098716	+	Frame_Shift_Del	DEL	A	A	-													atcccaggtctgcagagggtAaacagacggagtttatcatc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2098715_2098715TA>T	uc002con.3	+	1	205	c.99_99TA>T	c.(97-99)ggtfs	p.G33fs	TCRBV20S1_uc021tak.1_Intron|NTHL1_uc002col.1_5'Flank|TSC2_uc010uvu.1_Frame_Shift_Del_p.G33fs|TSC2_uc010bsd.3_Frame_Shift_Del_p.G33fs|TSC2_uc002coo.3_Frame_Shift_Del_p.G33fs|TSC2_uc010uvv.2_Frame_Shift_Del_p.G33fs|TSC2_uc010uvw.2_Intron|TSC2_uc002cop.3_5'UTR	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	33	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|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|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	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)				CTGCAGAGGGTAAACAGACGG	0.498			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				-	2098716	A	-	2098716	7	5	275	1	0	1	0	1	0	0	0	0	16603	363	13	0	102	0	TSC2	16	2098716	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	1268502	2098716	88256037	1002	142067											
PKD1	5310	broad.mit.edu	37	chr16	2156666	2156666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcttgttgctgaacgtacGtgcagcccaccgctgcaggc	12	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2156666G>A	uc002cos.1	-	18	7431	c.7222C>T	c.(7222-7224)CGT>TGT	p.R2408C	PKD1_uc002cot.1_Missense_Mutation_p.R2408C|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2408	Extracellular (Potential).|REJ.		R -> C (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CTGAACGTACGTGCAGCCCAC	0.692													A	2156666	G	A	2156666	3	1	275	1	0	0	0	0	1	0	0	0	11963	1145	40	1	5805	1	PKD1	16	2156666	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	57950	2156666	88198087	1003	142068											
CASKIN1	57524	broad.mit.edu	37	chr16	2233682	2233682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccagtcagggatgcttaGgccgctgatctctgccgcga	13	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2233682G>T	uc010bsg.1	-	16	1626	c.1594C>A	c.(1594-1596)CTA>ATA	p.L532I		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	532	SAM 1.				signal transduction	cytoplasm				skin(2)	2						GGGATGCTTAGGCCGCTGATC	0.562													T	2233682	G	T	2233682	3	4	275	1	0	0	0	0	1	0	0	0	2666	991	35	5	2721	5	CASKIN1	16	2233682	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	77016	2233682	88121071	1004	142069											
DCI	1632	broad.mit.edu	37	chr16	2293329	2293329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccttaccagaaaggggCgatgatgcccagctgggtct	15	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2293329C>T	uc002cpr.2	-	5	589	c.553G>A	c.(553-555)GCC>ACC	p.A185T	DCI_uc002cps.2_Intron	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	185					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						CAGAAAGGGGCGATGATGCCC	0.622													T	2293329	C	T	2293329	3	4	275	1	0	0	0	0	1	0	0	0	4289	768	27	1	367	1	DCI	16	2293329	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	59647	2293329	88061424	1005	142070											
ABCA3	21	broad.mit.edu	37	chr16	2374467	2374467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaccacggcggccagcaCgctggacgagcagttgtcgt	15	12	0	1	rs137924161	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2374467C>T	uc002cpy.1	-	6	1097	c.385G>A	c.(385-387)GTG>ATG	p.V129M	ABCA3_uc010bsk.1_Missense_Mutation_p.V129M|ABCA3_uc010bsl.1_Missense_Mutation_p.V129M|ABCA3_uc002cpz.1_Missense_Mutation_p.V129M	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	129					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCGGCCAGCACGCTGGACGAG	0.637													T	2374467	C	T	2374467	3	4	275	1	0	0	0	0	1	0	0	0	33	536	19	1	4841	1	ABCA3	16	2374467	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	81138	2374467	87980286	1006	142071											
PRSS21	10942	broad.mit.edu	37	chr16	2868703	2868703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccttagtgatccctccGggtggatggtccagtttggc	14	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:2868703G>T	uc002crt.2	+	4	389	c.283G>T	c.(283-285)GGG>TGG	p.G95W	PRSS21_uc002crs.2_Missense_Mutation_p.G93W|PRSS21_uc002crr.2_Missense_Mutation_p.G95W	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	95	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						TGATCCCTCCGGGTGGATGGT	0.567													T	2868703	G	T	2868703	3	4	275	1	0	0	0	0	1	0	0	0	12618	1116	39	5	297	5	PRSS21	16	2868703	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	494236	2868703	87486050	1007	142072											
MMP25	64386	broad.mit.edu	37	chr16	3097522	3097522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtcatgcagaggttcgCggggctgccggagaccggcc	16	12	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3097522C>T	uc002cth.2	+	2	443	c.206C>T	c.(205-207)GCG>GTG	p.A69V	MMP25_uc002cti.1_Missense_Mutation_p.A5V	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	69					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CAGAGGTTCGCGGGGCTGCCG	0.672													T	3097522	C	T	3097522	3	4	275	1	0	0	0	0	1	0	0	0	9662	768	27	1	212	1	MMP25	16	3097522	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	228819	3097522	87257231	1008	142073											
ZNF174	7727	broad.mit.edu	37	chr16	3458560	3458560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaatacatcagcagccccCtaaaaagccacccactgaga	7	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3458560C>A	uc002cvc.2	+	3	1680	c.865C>A	c.(865-867)CTA>ATA	p.L289I		NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	289					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				0						CAGCAGCCCCCTAAAAAGCCA	0.527													A	3458560	C	A	3458560	3	1	275	1	0	0	0	0	1	0	0	0	17741	680	24	5	959	5	ZNF174	16	3458560	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	361038	3458560	86896193	1009	142074											
ZNF597	146434	broad.mit.edu	37	chr16	3486537	3486537	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctagcatgtggctcttctGgtggcatgcaagttctgagt	13	9	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3486537G>A	uc002cvd.2	-	4	1346	c.1162C>T	c.(1162-1164)CAG>TAG	p.Q388*		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	388	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGCTCTTCTGGTGGCATGCA	0.388													A	3486537	G	A	3486537	4	1	275	1	0	0	0	0	0	1	0	0	18024	1357	47	4	116	4	ZNF597	16	3486537	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	27977	3486537	86868216	1010	142075											
DNASE1	1773	broad.mit.edu	37	chr16	3707055	3707055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgggggacgcagtagcCgagatcgacgctctctatga	14	13	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3707055C>T	uc002cvr.2	+	6	2599	c.492C>T	c.(490-492)GCC>GCT	p.A164A		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	164					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	ACGCAGTAGCCGAGATCGACG	0.642								Direct_reversal_of_damage					T	3707055	C	T	3707055	2	4	275	1	0	0	0	0	0	0	0	1	4660	639	23	1		1	DNASE1	16	3707055	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	220518	3707055	86647698	1011	142076											
CREBBP	1387	broad.mit.edu	37	chr16	3808953	3808953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggcatgagggcctggcGtaactcctctggtttaaaga	14	8	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:3808953G>A	uc002cvv.2	-	17	3475	c.3271C>T	c.(3271-3273)CGC>TGC	p.R1091C	CREBBP_uc002cvw.2_Missense_Mutation_p.R1053C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1091					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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGCCTGGCGTAACTCCTCT	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				A	3808953	G	A	3808953	3	1	275	1	0	0	0	0	1	0	0	0	3861	1145	40	1	4117	1	CREBBP	16	3808953	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	101898	3808953	86545800	1012	142077											
MGRN1	23295	broad.mit.edu	37	chr16	4732864	4732866	+	In_Frame_Del	DEL	GAG	GAG	-													cccccatccacgaagaggatGaggagaagctctccgaggac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:4732863_4732865TGAG>T	uc002cxa.3	+	13	1535_1537	c.1398_1400TGAG>T	c.(1396-1401)gatgag>gaTg	p.E468del	MGRN1_uc002cwz.3_In_Frame_Del_p.E468del|MGRN1_uc010uxo.2_In_Frame_Del_p.E446del|MGRN1_uc010uxp.2_In_Frame_Del_p.E446del|MGRN1_uc010btw.3_In_Frame_Del_p.E447del|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	468					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E467K(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACGAAGAGGATGAGGAGAAGCTC	0.67													-	4732866	GAG	-	4732864	7	5	275	1	0	1	0	1	0	0	0	0	9559	1291	45	0	1456	0	MGRN1	16	4732864	In_Frame_Del	DEL	GAG	TCGA-HU-A4GX-01A-12D-A25D-08	923911	4732864	85621889	1013	142078											
SEPT12	124404	broad.mit.edu	37	chr16	4837628	4837628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggcagggagagggggAgcgcctcagggggtccatgg	22	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:4837628A>G	uc002cxq.2	-	2	160	c.19T>C	c.(19-21)TCC>CCC	p.S7P	SEPT12_uc002cxr.2_Missense_Mutation_p.S7P|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	7					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			skin(1)	1						GGAGAGGGGGAGCGCCTCAGG	0.667													G	4837628	A	G	4837628	3	3	275	1	0	0	0	0	1	0	0	0	14062	304	11	3	1093	3	SEPT12	16	4837628	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	104764	4837628	85517125	1014	142079											
C16orf89	146556	broad.mit.edu	37	chr16	5106074	5106074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttccatgaagatgtccCgggtagggtaggcgtatccg	14	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:5106074C>T	uc010bud.2	-	5	945	c.857G>A	c.(856-858)CGG>CAG	p.R286Q	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.R286Q	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	248						extracellular region				ovary(1)|skin(1)	2						GAAGATGTCCCGGGTAGGGTA	0.493													T	5106074	C	T	5106074	3	4	275	1	0	0	0	0	1	0	0	0	1842	652	23	1	616	1	C16orf89	16	5106074	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	268446	5106074	85248679	1015	142080											
ATF7IP2	80063	broad.mit.edu	37	chr16	10551245	10551245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggttgcaaattcagaggCtatgattttggataagaatc	10	4	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:10551245C>T	uc002czu.2	+	7	1438	c.1211C>T	c.(1210-1212)GCT>GTT	p.A404V	ATF7IP2_uc002czv.2_Missense_Mutation_p.A404V|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.A404V|ATF7IP2_uc010uyq.1_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AATTCAGAGGCTATGATTTTG	0.318													T	10551245	C	T	10551245	3	4	275	1	0	0	0	0	1	0	0	0	1088	797	28	2	1229	2	ATF7IP2	16	10551245	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5445171	10551245	79803508	1016	142081											
TEKT5	146279	broad.mit.edu	37	chr16	10721647	10721647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgatggtgaacacctcGttcaccagcctggggtgagg	14	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:10721647G>A	uc002czz.1	-	7	1323	c.1251C>T	c.(1249-1251)AAC>AAT	p.N417N		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	417					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						TGAACACCTCGTTCACCAGCC	0.453													A	10721647	G	A	10721647	2	1	275	1	0	0	0	0	0	0	0	1	15753	1136	40	1		1	TEKT5	16	10721647	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	170402	10721647	79633106	1017	142082											
TEKT5	146279	broad.mit.edu	37	chr16	10788457	10788457	+	Frame_Shift_Del	DEL	G	G	-													gttggactggtcccagtcgtGggggctatagcgagagaaga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:10788456_10788456TG>T	uc002czz.1	-	0	347	c.275_275CA>A	c.(274-276)cacfs	p.H92fs		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	92					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						GTCCCAGTCGTGGGGGCTATA	0.682													-	10788457	G	-	10788457	7	5	275	1	0	1	0	1	0	0	0	0	15753	1348	47	0	1211	0	TEKT5	16	10788457	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	66810	10788457	79566296	1018	142083											
SNX29	92017	broad.mit.edu	37	chr16	12618643	12618643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcatccagatggtccccGagttcgctgccagccccaag	10	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:12618643G>A	uc002dby.3	+	13	1164	c.1108G>A	c.(1108-1110)GAG>AAG	p.E370K		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	370	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1						GATGGTCCCCGAGTTCGCTGC	0.557													A	12618643	G	A	12618643	3	1	275	1	0	0	0	0	1	0	0	0	14898	1059	37	1	1154	1	SNX29	16	12618643	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1830186	12618643	77736110	1019	142084											
RRN3	54700	broad.mit.edu	37	chr16	15178534	15178534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattatttgcaaggctctGtgacatgtgtcaaaatttgc	9	7	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:15178534G>A	uc002dde.2	-	7	629	c.561C>T	c.(559-561)CAC>CAT	p.H187H	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Silent_p.H88H|RRN3_uc010uzq.1_Silent_p.H157H|RRN3_uc002ddf.1_Silent_p.H187H	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	187					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						GCAAGGCTCTGTGACATGTGT	0.328													A	15178534	G	A	15178534	2	1	275	1	0	0	0	0	0	0	0	1	13684	1368	48	4		4	RRN3	16	15178534	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2559891	15178534	75176219	1020	142085											
ABCC1	4363	broad.mit.edu	37	chr16	16146642	16146642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcatggtgcccgtcaatgCtgtgatggcgatgaagacca	12	11	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:16146642C>A	uc010bvi.2	+	11	1617	c.1442C>A	c.(1441-1443)GCT>GAT	p.A481D	ABCC1_uc010bvj.2_Missense_Mutation_p.A481D|ABCC1_uc010bvk.2_Missense_Mutation_p.A481D|ABCC1_uc010bvl.2_Missense_Mutation_p.A481D|ABCC1_uc010bvm.2_Missense_Mutation_p.A481D|ABCC1_uc002del.3_Missense_Mutation_p.A365D|ABCC1_uc010bvn.2_Missense_Mutation_p.A344D	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	481	Helical; Name=9.|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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCCGTCAATGCTGTGATGGCG	0.567													A	16146642	C	A	16146642	3	1	275	1	0	0	0	0	1	0	0	0	49	797	28	5	1484	5	ABCC1	16	16146642	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	968108	16146642	74208111	1021	142086											
ACSM1	116285	broad.mit.edu	37	chr16	20673143	20673143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcctgctgcagaatcattCgatatatagatgataccccc	6	11	1	3	rs146842441		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:20673143C>T	uc002dhm.1	-	6	1033	c.965G>A	c.(964-966)CGA>CAA	p.R322Q	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.R322Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	322					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)|skin(1)	2						CAGAATCATTCGATATATAGA	0.358													T	20673143	C	T	20673143	3	4	275	1	0	0	0	0	1	0	0	0	182	884	31	1	800	1	ACSM1	16	20673143	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4526501	20673143	69681610	1022	142087											
GGA2	23062	broad.mit.edu	37	chr16	23499987	23499987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggagatggtgggggTaagattttatccactggtag	17	5	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:23499987T>C	uc002dlq.2	-	6	595	c.519A>G	c.(517-519)TTA>TTG	p.L173L	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	173					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		ATGGTGGGGGTAAGATTTTAT	0.408													C	23499987	T	C	23499987	2	2	275	1	0	0	0	0	0	0	0	1	6353	1635	57	3		3	GGA2	16	23499987	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2826844	23499987	66854766	1023	142088											
IL27	246778	broad.mit.edu	37	chr16	28515226	28515226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctggccccgaacctcGgagagcagcttcctggcgag	15	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:28515226G>A	uc002dqc.2	-	2	200	c.177C>T	c.(175-177)TCC>TCT	p.S59S	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	59					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0						CCCGAACCTCGGAGAGCAGCT	0.652													A	28515226	G	A	28515226	2	1	275	1	0	0	0	0	0	0	0	1	7680	1103	39	1		1	IL27	16	28515226	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5015239	28515226	61839527	1024	142089											
ATP2A1	487	broad.mit.edu	37	chr16	28911961	28911961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcgcaaggaggtcacGggctccatccagctgtgccg	13	16	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:28911961G>A	uc002dro.1	+	15	2008	c.1824G>A	c.(1822-1824)ACG>ACA	p.T608T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.T608T|ATP2A1_uc002drp.1_Silent_p.T483T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	608	Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGGAGGTCACGGGCTCCATCC	0.617													A	28911961	G	A	28911961	2	1	275	1	0	0	0	0	0	0	0	1	1136	1103	39	1		1	ATP2A1	16	28911961	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	396735	28911961	61442792	1025	142090											
SEPT1	1731	broad.mit.edu	37	chr16	30392536	30392536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactttctcgtgtactgccCggaggaaggccacatctagg	12	11	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:30392536C>A	uc002dxy.2	-	7	657	c.470G>T	c.(469-471)CGG>CTG	p.R157L	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_3'UTR	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	157					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)			GTGTACTGCCCGGAGGAAGGC	0.607													A	30392536	C	A	30392536	3	1	275	1	0	0	0	0	1	0	0	0	14059	652	23	5	657	5	SEPT1	16	30392536	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1480575	30392536	59962217	1026	142091											
SRCAP	10847	broad.mit.edu	37	chr16	30723028	30723028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggggcccgtggaagcGgaagagcctcctcaggagga	17	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:30723028G>A	uc002dze.1	+	11	1840	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.A342A|SRCAP_uc010bzz.1_Silent_p.A55A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	485	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCGTGGAAGCGGAAGAGCCTC	0.547													A	30723028	G	A	30723028	2	1	275	1	0	0	0	0	0	0	0	1	15134	1103	39	1		1	SRCAP	16	30723028	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	330492	30723028	59631725	1027	142092											
FBXL19	54620	broad.mit.edu	37	chr16	30958185	30958185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggacctgagccactgcGcccacgtcggggaccccagt	12	18	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:30958185G>A	uc002eab.2	+	10	1980	c.1822G>A	c.(1822-1824)GCC>ACC	p.A608T	FBXL19_uc002dzz.1_Missense_Mutation_p.A296T|FBXL19_uc002eaa.1_Missense_Mutation_p.A507T|ORAI3_uc002eac.2_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	608	LRR 4.						DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						GAGCCACTGCGCCCACGTCGG	0.672													A	30958185	G	A	30958185	3	1	275	1	0	0	0	0	1	0	0	0	5715	1087	38	1	1860	1	FBXL19	16	30958185	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	235157	30958185	59396568	1028	142093											
PRSS53	339105	broad.mit.edu	37	chr16	31096300	31096300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcaggccccactcctcCggtctggtccccagccctac	8	20	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:31096300C>T	uc002eaq.2	-	8	1080	c.1080G>A	c.(1078-1080)CCG>CCA	p.P360P	PRSS53_uc002ear.2_Silent_p.P154P	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	360	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity				0						CCCACTCCTCCGGTCTGGTCC	0.687													T	31096300	C	T	31096300	2	4	275	1	0	0	0	0	0	0	0	1	12632	639	23	1		1	PRSS53	16	31096300	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	138115	31096300	59258453	1029	142094											
ITGAM	3684	broad.mit.edu	37	chr16	31332935	31332935	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagaagagcacacgggaTcggctaagagaaggtgaggc	16	8	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:31332935T>C	uc002ebq.2	+	16	2087	c.1989T>C	c.(1987-1989)GAT>GAC	p.D663D	ITGAM_uc002ebr.2_Silent_p.D664D|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Silent_p.D69D|ITGAM_uc002ebs.1_Silent_p.D69D	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	663	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GCACACGGGATCGGCTAAGAG	0.527													C	31332935	T	C	31332935	2	2	275	1	0	0	0	0	0	0	0	1	7887	1432	50	3		3	ITGAM	16	31332935	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	236635	31332935	59021818	1030	142095											
PHKB	5257	broad.mit.edu	37	chr16	47730354	47730354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccttgttgaagacacGttgggaaatattgaccagcc	9	10	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:47730354G>A	uc002eev.3	+	29	3010	c.2958G>A	c.(2956-2958)ACG>ACA	p.T986T	PHKB_uc002eeu.3_Silent_p.T979T|PHKB_uc002eew.3_Silent_p.T227T	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTGAAGACACGTTGGGAAATA	0.408													A	47730354	G	A	47730354	2	1	275	1	0	0	0	0	0	0	0	1	11845	1132	40	1		1	PHKB	16	47730354	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	16397419	47730354	42624399	1031	142096											
N4BP1	9683	broad.mit.edu	37	chr16	48595821	48595821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttgttttgtaagctcagAaacaggagtcccagctttat	8	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:48595821A>G	uc002efp.2	-	2	970	c.733T>C	c.(733-735)TCT>CCT	p.S245P		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	245					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				GTAAGCTCAGAAACAGGAGTC	0.418													G	48595821	A	G	48595821	3	3	275	1	0	0	0	0	1	0	0	0	10109	246	9	3	1981	3	N4BP1	16	48595821	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	865467	48595821	41758932	1032	142097											
ZNF423	23090	broad.mit.edu	37	chr16	49671871	49671871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccctgcccgtcatcccGcatcttcttctgcccccgca	6	22	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:49671871G>A	uc002efs.2	-	5	1490	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	ZNF423_uc010vgn.1_Missense_Mutation_p.R281W	NM_015069	NP_055884	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			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CCGTCATCCCGCATCTTCTTC	0.637													A	49671871	G	A	49671871	3	1	275	1	0	0	0	0	1	0	0	0	17895	1086	38	1	2682	1	ZNF423	16	49671871	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1076050	49671871	40682882	1033	142098											
SALL1	6299	broad.mit.edu	37	chr16	51185147	51185147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgcttgcttcctccgCgacatgctggctcaaacatc	9	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:51185147C>T	uc010vgs.1	-	1	37	c.6G>A	c.(4-6)TCG>TCA	p.S2S	SALL1_uc010vgr.1_5'Flank|SALL1_uc010cbv.2_Missense_Mutation_p.R7H	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	2					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			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTTCCTCCGCGACATGCTGG	0.458													T	51185147	C	T	51185147	2	4	275	1	0	0	0	0	0	0	0	1	13810	755	27	1		1	SALL1	16	51185147	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1513276	51185147	39169606	1034	142099											
IRX6	79190	broad.mit.edu	37	chr16	55362834	55362834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggcctggctgcgccccGcttctccttcaatgaccctt	10	17	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:55362834G>A	uc002ehy.2	+	5	1477	c.944G>A	c.(943-945)CGC>CAC	p.R315H	IRX6_uc002ehx.2_Missense_Mutation_p.R315H	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GCTGCGCCCCGCTTCTCCTTC	0.637													A	55362834	G	A	55362834	3	1	275	1	0	0	0	0	1	0	0	0	7848	1087	38	1	962	1	IRX6	16	55362834	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4177687	55362834	34991919	1035	142100											
MT4	84560	broad.mit.edu	37	chr16	56602769	56602770	+	Frame_Shift_Ins	INS	-	-	C													caggctgctgtccctgctgcINScccccgggctgtgccaaatg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:56602768_56602769G>GC	uc002eje.1	+	2	193_194	c.113_114G>GC	c.(112-114)tgcfs	p.C38fs		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													C	56602770	-	C	56602769	7	5	275	1	0	1	1	0	0	0	0	0	9907	747	26	0	124	0	MT4	16	56602769	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1239935	56602769	33751984	1036	142101											
CCDC135	84229	broad.mit.edu	37	chr16	57756637	57756637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacagcatttgagacccGctgcccgaacgggaagaagg	13	12	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:57756637G>A	uc002emi.2	+	10	1381	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	CCDC135_uc002emj.2_Missense_Mutation_p.R431H|CCDC135_uc002emk.2_Missense_Mutation_p.R366H	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	431						cytoplasm				central_nervous_system(1)	1						TTTGAGACCCGCTGCCCGAAC	0.592													A	57756637	G	A	57756637	3	1	275	1	0	0	0	0	1	0	0	0	2769	1087	38	1	1326	1	CCDC135	16	57756637	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1153868	57756637	32598116	1037	142102											
CNGB1	1258	broad.mit.edu	37	chr16	57931400	57931400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggttggtaaacccgtgcGccaccacgttggccgtgcgc	14	13	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:57931400G>A	uc002emt.2	-	31	3208	c.3143C>T	c.(3142-3144)GCG>GTG	p.A1048V	CNGB1_uc010cdh.2_Missense_Mutation_p.A1042V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1048	Cytoplasmic (Potential).|cAMP (By similarity).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						AAACCCGTGCGCCACCACGTT	0.572													A	57931400	G	A	57931400	3	1	275	1	0	0	0	0	1	0	0	0	3600	1087	38	1	624	1	CNGB1	16	57931400	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	174763	57931400	32423353	1038	142103											
PRSS54	221191	broad.mit.edu	37	chr16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttgccaaaatgcatcGctgtgtctgtcttcaggagg	12	10	3	0	rs149972398		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:58319950G>A	uc002enf.2	-	5	808	c.413C>T	c.(412-414)GCG>GTG	p.A138V	PRSS54_uc002eng.2_Missense_Mutation_p.A138V|PRSS54_uc010vie.1_Missense_Mutation_p.A39V	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	138	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						AAAATGCATCGCTGTGTCTGT	0.493													A	58319950	G	A	58319950	3	1	275	1	0	0	0	0	1	0	0	0	12633	1087	38	1	786	1	PRSS54	16	58319950	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	388550	58319950	32034803	1039	142104											
LRRC36	55282	broad.mit.edu	37	chr16	67418824	67418824	+	Frame_Shift_Del	DEL	A	A	-													cagcagctgaataaggagccAaaaggttattccgggaaagc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:67418823_67418823CA>C	uc002esv.3	+	13	2115	c.2096_2096CA>C	c.(2095-2097)ccafs	p.P699fs	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc002esx.3_Frame_Shift_Del_p.P578fs|LRRC36_uc010vjk.2_Frame_Shift_Del_p.P474fs|LRRC36_uc010vjl.2_Frame_Shift_Del_p.P171fs	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	699										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)		AATAAGGAGCCAAAAGGTTAT	0.498													-	67418824	A	-	67418824	7	5	275	1	0	1	0	1	0	0	0	0	8990	117	5	0	2179	0	LRRC36	16	67418824	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	9098874	67418824	22935929	1040	142105											
ZDHHC1	29800	broad.mit.edu	37	chr16	67433331	67433331	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcacacgcacttgttgcAggcgctgcagtgcttggagc	13	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:67433331A>G	uc010vjm.1	-	5	761	c.457T>C	c.(457-459)TGC>CGC	p.C153R		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	153	DHHC-type.					integral to membrane	DNA binding|zinc ion binding				0		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)		CACTTGTTGCAGGCGCTGCAG	0.692													G	67433331	A	G	67433331	3	3	275	1	0	0	0	0	1	0	0	0	17597	188	7	3	1028	3	ZDHHC1	16	67433331	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	14507	67433331	22921422	1041	142106											
RLTPR	146206	broad.mit.edu	37	chr16	67682131	67682131	+	Frame_Shift_Del	DEL	C	C	-													gcgggtgtagccaacagcctCcccccgcagctcttcgcagc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:67682131delC	uc002etn.2	+	14	1368	c.1248delC	c.(1246-1248)CTCfs	p.L416fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.L416fs|RLTPR_uc010vjr.1_Intron	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	416	LRR 7.									breast(1)	1		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)		CCAACAGCCTCCCCCCGCAGC	0.701													-	67682131	C	-	67682131	7	5	275	1	0	1	0	1	0	0	0	0	13394	842	30	0	1302	0	RLTPR	16	67682131	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	248800	67682131	22672622	1042	142107											
NFAT5	10725	broad.mit.edu	37	chr16	69703941	69703943	+	In_Frame_Del	DEL	AGA	AGA	-													catagctgttcagtgaaaggAgaagaagaagtgtttttaat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:69703940_69703942GAGA>G	uc002exm.2	+	6	1712_1714	c.1376_1378GAGA>G	c.(1375-1380)ggagaa>gGaa	p.E462del	NFAT5_uc002exj.2_In_Frame_Del_p.E386del|NFAT5_uc002exk.2_In_Frame_Del_p.E386del|NFAT5_uc002exl.2_In_Frame_Del_p.E480del|NFAT5_uc002exn.2_In_Frame_Del_p.E480del|NFAT5_uc002exh.2_In_Frame_Del_p.E256del|NFAT5_uc002exi.3_In_Frame_Del_p.E386del	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	462					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P462P(1)		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						TCAGTGAAAGGAGAAGAAGAAGT	0.374													-	69703943	AGA	-	69703941	7	5	275	1	0	1	0	1	0	0	0	0	10360	291	11	0	1461	0	NFAT5	16	69703941	In_Frame_Del	DEL	AGA	TCGA-HU-A4GX-01A-12D-A25D-08	2021810	69703941	20650812	1043	142108											
FUK	197258	broad.mit.edu	37	chr16	70500827	70500827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtgtgggtctgcagcaccGacatgctgctgtctgttcct	13	12	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:70500827G>A	uc002eyy.2	+	6	512	c.454G>A	c.(454-456)GAC>AAC	p.D152N	FUK_uc010vmb.1_Missense_Mutation_p.D135N|FUK_uc010cft.2_Missense_Mutation_p.D184N|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	152						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CTGCAGCACCGACATGCTGCT	0.642													A	70500827	G	A	70500827	3	1	275	1	0	0	0	0	1	0	0	0	6096	1058	37	1	472	1	FUK	16	70500827	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	796886	70500827	19853926	1044	142109											
HYDIN	54768	broad.mit.edu	37	chr16	70977741	70977741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctctgccaggatctgcaCgagaagttcatccgggagca	12	13	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:70977741C>T	uc002ezr.2	-	42	6768	c.6640G>A	c.(6640-6642)GTG>ATG	p.V2214M		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2215										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGGATCTGCACGAGAAGTTCA	0.637													T	70977741	C	T	70977741	3	4	275	1	0	0	0	0	1	0	0	0	7467	536	19	1	8902	1	HYDIN	16	70977741	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	476914	70977741	19377012	1045	142110											
MARVELD3	91862	broad.mit.edu	37	chr16	71668550	71668550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaaagcaaaggctacagCggtttcggctgcagtttcca	10	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:71668550C>T	uc002fat.2	+	3	1113	c.1050C>T	c.(1048-1050)AGC>AGT	p.S350S	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	350	MARVEL.|Extracellular (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				AAGGCTACAGCGGTTTCGGCT	0.552													T	71668550	C	T	71668550	2	4	275	1	0	0	0	0	0	0	0	1	9319	767	27	1		1	MARVELD3	16	71668550	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	690809	71668550	18686203	1046	142111											
AP1G1	164	broad.mit.edu	37	chr16	71779114	71779114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatggtttgcttgtaggCgcagttggaataacaggtgt	15	4	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:71779114C>T	uc010cgg.2	-	19	2246	c.1932G>A	c.(1930-1932)GCG>GCA	p.A644A	AP1G1_uc002fba.2_Silent_p.A647A|AP1G1_uc002fbb.2_Silent_p.A667A|AP1G1_uc002faz.2_Silent_p.A61A	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	644					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			ovary(2)	2		Ovarian(137;0.125)				TGCTTGTAGGCGCAGTTGGAA	0.408													T	71779114	C	T	71779114	2	4	275	1	0	0	0	0	0	0	0	1	732	755	27	1		1	AP1G1	16	71779114	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	110564	71779114	18575639	1047	142112											
HPR	3250	broad.mit.edu	37	chr16	72110691	72110691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaatacgattgcataaCgcattatgaaggcagcacat	8	9	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72110691C>T	uc002fby.2	+	5	788	c.758C>T	c.(757-759)ACG>ATG	p.T253M	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	253	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				GATTGCATAACGCATTATGAA	0.507													T	72110691	C	T	72110691	3	4	275	1	0	0	0	0	1	0	0	0	7337	536	19	1	776	1	HPR	16	72110691	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	331577	72110691	18244062	1048	142113											
PMFBP1	83449	broad.mit.edu	37	chr16	72174448	72174448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagaagtgtatatccGtacctttgaatgatcaccct	9	9	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72174448G>A	uc002fcc.3	-	6	842	c.670C>T	c.(670-672)CGG>TGG	p.R224W	PMFBP1_uc002fcd.2_Missense_Mutation_p.R224W|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.R79W	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	224										ovary(2)	2		Ovarian(137;0.179)				GTGTATATCCGTACCTTTGAA	0.398													A	72174448	G	A	72174448	3	1	275	1	0	0	0	0	1	0	0	0	12134	1144	40	1	2477	1	PMFBP1	16	72174448	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	63757	72174448	18180305	1049	142114											
ZFHX3	463	broad.mit.edu	37	chr16	72828435	72828435	+	Frame_Shift_Del	DEL	A	A	-													ggctttgaagagcgctctgcAaaaagggcatctcctgtggg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72828434_72828434CA>C	uc002fck.3	-	8	8820	c.8147_8147TG>G	c.(8146-8148)tgcfs	p.C2716fs	ZFHX3_uc002fcl.3_Frame_Shift_Del_p.C1802fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	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>?(2)		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)				GAGCGCTCTGCAAAAAGGGCA	0.567													-	72828435	A	-	72828435	7	5	275	1	0	1	0	1	0	0	0	0	17631	130	5	0	2973	0	ZFHX3	16	72828435	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	653987	72828435	17526318	1050	142115											
ZFHX3	463	broad.mit.edu	37	chr16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-													agtgtggctgaagacctgctCcccccctccattctgcaggt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:72991757_72991757TC>T	uc002fck.3	-	1	2961	c.2288_2288GA>A	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					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)				GAAGACCTGCTCCCCCCCTCC	0.622													-	72991758	C	-	72991758	7	5	275	1	0	1	0	1	0	0	0	0	17631	864	30	0	8860	0	ZFHX3	16	72991758	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	163323	72991758	17362995	1051	142116											
FA2H	79152	broad.mit.edu	37	chr16	74750315	74750315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggtaggagcccttgtgCggcgagccaaagtgcaggta	15	9	0	0	rs144071567	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:74750315C>T	uc002fde.1	-	6	1037	c.969G>A	c.(967-969)CCG>CCA	p.P323P	FA2H_uc002fdd.1_Silent_p.P96P|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	323					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						AGCCCTTGTGCGGCGAGCCAA	0.607													T	74750315	C	T	74750315	2	4	275	1	0	0	0	0	0	0	0	1	5352	755	27	1		1	FA2H	16	74750315	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1758557	74750315	15604438	1052	142117											
WDR59	79726	broad.mit.edu	37	chr16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-													tggtggcaaggcagttagcaTtttttttattccatttgacc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:74976690_74976690AT>A	uc002fdh.1	-	6	582	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAGTTAGCATTTTTTTTAT	0.498													-	74976691	T	-	74976691	7	5	275	1	0	1	0	1	0	0	0	0	17305	1493	52	0	2525	0	WDR59	16	74976691	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	226376	74976691	15378062	1053	142118											
CHST5	23563	broad.mit.edu	37	chr16	75563591	75563591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgccgcctcccgggagCgcagcacggcccgcgggtcg	17	19	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:75563591C>T	uc002fei.2	-	3	2087	c.692G>A	c.(691-693)CGC>CAC	p.R231H	CHST5_uc002fej.1_Missense_Mutation_p.R237H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	231	Lumenal (Potential).|PAPS (By similarity).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CTCCCGGGAGCGCAGCACGGC	0.701													T	75563591	C	T	75563591	3	4	275	1	0	0	0	0	1	0	0	0	3407	768	27	1	547	1	CHST5	16	75563591	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	586900	75563591	14791162	1054	142119											
CHST5	23563	broad.mit.edu	37	chr16	75563611	75563611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcacggcccgcgggtcGcgcaccaggtgcacgatgcg	16	16	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:75563611G>A	uc002fei.2	-	3	2067	c.672C>T	c.(670-672)CGC>CGT	p.R224R	CHST5_uc002fej.1_Silent_p.R230R	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	224	Lumenal (Potential).|PAPS (By similarity).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CCCGCGGGTCGCGCACCAGGT	0.706													A	75563611	G	A	75563611	2	1	275	1	0	0	0	0	0	0	0	1	3407	1074	38	1		1	CHST5	16	75563611	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	20	75563611	14791142	1055	142120											
PKD1L2	114780	broad.mit.edu	37	chr16	81167248	81167248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcaatggcagcggtgagaGgtggctggtagacatccctg	15	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:81167248G>T	uc002fgh.1	-	35	5777	c.5777C>A	c.(5776-5778)CCT>CAT	p.P1926H	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1926	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGCGGTGAGAGGTGGCTGGTA	0.552													T	81167248	G	T	81167248	3	4	275	1	0	0	0	0	1	0	0	0	11965	1000	35	5	1641	5	PKD1L2	16	81167248	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5603637	81167248	9187505	1056	142121											
BCMO1	53630	broad.mit.edu	37	chr16	81320986	81320986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacccctgtttgtgcccgcGccaggtgccaaggatgagga	14	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:81320986G>A	uc002fgn.1	+	10	1607	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	BCMO1_uc010vnp.1_Silent_p.A394A	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	463					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						TTGTGCCCGCGCCAGGTGCCA	0.517													A	81320986	G	A	81320986	2	1	275	1	0	0	0	0	0	0	0	1	1384	1074	38	1		1	BCMO1	16	81320986	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	153738	81320986	9033767	1057	142122											
CDH13	1012	broad.mit.edu	37	chr16	83065794	83065794	+	Frame_Shift_Del	DEL	G	G	-													tggcagaactcgtgattgtcGgggggaaagacatccagggc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:83065793_83065793CG>C	uc010vns.2	+	3	741	c.477_477CG>C	c.(475-477)gtcfs	p.V159fs	CDH13_uc021tlw.1_Frame_Shift_Del_p.V112fs|CDH13_uc010chh.3_Frame_Shift_Del_p.V112fs|CDH13_uc002fgx.3_Frame_Shift_Del_p.V112fs|CDH13_uc010vnt.2_Intron|CDH13_uc010vnu.2_Frame_Shift_Del_p.V112fs	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	112	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|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|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|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)		TCGTGATTGTCGGGGGGAAAG	0.493													-	83065794	G	-	83065794	7	5	275	1	0	1	0	1	0	0	0	0	3099	1116	39	0	347	0	CDH13	16	83065794	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1744808	83065794	7288959	1058	142123											
HSDL1	83693	broad.mit.edu	37	chr16	84163848	84163848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtccttcagggcttctcGaattggaaggtagatctcac	10	9	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:84163848G>A	uc002fhk.2	-	4	593	c.409C>T	c.(409-411)CGA>TGA	p.R137*	HSDL1_uc010vnv.1_Intron	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	137						mitochondrion	oxidoreductase activity|protein binding				0						AGGGCTTCTCGAATTGGAAGG	0.473													A	84163848	G	A	84163848	4	1	275	1	0	0	0	0	0	1	0	0	7393	1066	37	1	595	1	HSDL1	16	84163848	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1098054	84163848	6190905	1059	142124											
KCNG4	93107	broad.mit.edu	37	chr16	84270841	84270841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctgagtttgctcaggCggctcagcgggaaccggtcc	15	12	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:84270841C>T	uc010voc.1	-	2	372	c.251G>A	c.(250-252)CGC>CAC	p.R84H	KCNG4_uc002fhu.1_Missense_Mutation_p.R84H	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	84	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TTTGCTCAGGCGGCTCAGCGG	0.612													T	84270841	C	T	84270841	3	4	275	1	0	0	0	0	1	0	0	0	8030	768	27	1	1314	1	KCNG4	16	84270841	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	106993	84270841	6083912	1060	142125											
WFDC1	58189	broad.mit.edu	37	chr16	84353123	84353123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctgagcccaggtgacGtggccgaaggtatccccaac	11	14	0	2	rs143106490	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:84353123G>A	uc002fhw.2	+	4	685	c.508G>A	c.(508-510)GTG>ATG	p.V170M	WFDC1_uc002fhv.2_Missense_Mutation_p.V170M	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1 precursor	170					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)	1						CCCAGGTGACGTGGCCGAAGG	0.672													A	84353123	G	A	84353123	3	1	275	1	0	0	0	0	1	0	0	0	17343	1145	40	1	522	1	WFDC1	16	84353123	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	82282	84353123	6001630	1061	142126											
KIAA0182	23199	broad.mit.edu	37	chr16	85688440	85688440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggtgccccccagtaccGtgaccgaggactacctgaga	12	14	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:85688440G>A	uc002fix.2	+	5	714	c.640G>A	c.(640-642)GTG>ATG	p.V214M	KIAA0182_uc002fiw.2_Missense_Mutation_p.V110M|KIAA0182_uc002fiy.2_Missense_Mutation_p.V141M	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	214							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CCCCAGTACCGTGACCGAGGA	0.682													A	85688440	G	A	85688440	3	1	275	1	0	0	0	0	1	0	0	0	8159	1145	40	1	658	1	KIAA0182	16	85688440	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1335317	85688440	4666313	1062	142127											
FBXO31	79791	broad.mit.edu	37	chr16	87393948	87393948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgtgatctccagcttcCgcaagttttcgcaaacacca	7	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:87393948C>T	uc002fjw.2	-	2	409	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	FBXO31_uc010vot.1_5'UTR|FBXO31_uc002fjv.2_Missense_Mutation_p.R14Q	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	122					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTCCAGCTTCCGCAAGTTTTC	0.458													T	87393948	C	T	87393948	3	4	275	1	0	0	0	0	1	0	0	0	5741	652	23	1	1286	1	FBXO31	16	87393948	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1705508	87393948	2960805	1063	142128											
ZC3H18	124245	broad.mit.edu	37	chr16	88694459	88694460	+	Frame_Shift_Ins	INS	-	-	C													ctcgacaccccagcaggcacINScccccgggcagccccagcag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:88694458_88694459A>AC	uc010voz.2	+	15	2672_2673	c.2472_2473A>AC	c.(2470-2475)gcacccfs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Ins_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding	p.Q804fs*15(1)		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)		CCCAGCAGGCACCCCCCGGGCA	0.609													C	88694460	-	C	88694459	7	5	275	1	0	1	1	0	0	0	0	0	17565	507	18	0	2455	0	ZC3H18	16	88694459	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1300511	88694459	1660294	1064	142129											
CDT1	81620	broad.mit.edu	37	chr16	88871863	88871863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagtggcgagaaggcgccCgcctaccagcgcttccatgc	13	15	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:88871863C>T	uc002flu.2	+	4	558	c.504C>T	c.(502-504)CCC>CCT	p.P168P		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	168	Interaction with GMNN.				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGAAGGCGCCCGCCTACCAGC	0.677													T	88871863	C	T	88871863	2	4	275	1	0	0	0	0	0	0	0	1	3180	639	23	1		1	CDT1	16	88871863	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	177404	88871863	1482890	1065	142130											
DPEP1	1800	broad.mit.edu	37	chr16	89704614	89704614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctcccctggtcctctGtctgtctctcctgtgaaacc	7	18	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:89704614G>A	uc010cin.2	+	11	1423	c.1220G>A	c.(1219-1221)TGT>TAT	p.C407Y	DPEP1_uc002fnr.3_Missense_Mutation_p.C407Y|DPEP1_uc002fns.3_Missense_Mutation_p.C407Y	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	407					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTGGTCCTCTGTCTGTCTCTC	0.657													A	89704614	G	A	89704614	3	1	275	1	0	0	0	0	1	0	0	0	4713	1377	48	4	1258	4	DPEP1	16	89704614	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	832751	89704614	650139	1066	142131											
FANCA	2175	broad.mit.edu	37	chr16	89849416	89849416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatggagggacagcttgccTtgaggtcggccagccgtgtc	16	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr16:89849416T>C	uc002fou.1	-	16	1607	c.1565A>G	c.(1564-1566)AAG>AGG	p.K522R	FANCA_uc010vpn.1_Missense_Mutation_p.K522R	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	522					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACAGCTTGCCTTGAGGTCGGC	0.547			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	89849416	T	C	89849416	3	2	275	1	0	0	0	0	1	0	0	0	5662	1623	56	3	2914	3	FANCA	16	89849416	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	144802	89849416	505337	1067	142132											
RNMTL1	55178	broad.mit.edu	37	chr17	691291	691291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttattattgatttgtgacAatctccgtgaccctgggaac	8	9	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:691291A>C	uc002frw.2	+	3	752	c.646A>C	c.(646-648)AAT>CAT	p.N216H		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	216					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GATTTGTGACAATCTCCGTGA	0.443													C	691291	A	C	691291	3	2	275	1	0	0	0	0	1	0	0	0	13507	130	5	5	656	5	RNMTL1	17	691291	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08		691291	80503919	1068	142133											
ABR	29	broad.mit.edu	37	chr17	961263	961263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actctgacctctcgtagtccGaggacagtaggaacaggtaa	11	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:961263G>A	uc002fsd.2	-	12	1438	c.1328C>T	c.(1327-1329)TCG>TTG	p.S443L	ABR_uc002fse.2_Missense_Mutation_p.S397L|ABR_uc010vqg.1_Missense_Mutation_p.S225L|ABR_uc002fsg.2_Missense_Mutation_p.S406L|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	443	PH.				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			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTCGTAGTCCGAGGACAGTAG	0.463													A	961263	G	A	961263	3	1	275	1	0	0	0	0	1	0	0	0	99	1059	37	1	1299	1	ABR	17	961263	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	269972	961263	80233947	1069	142134											
WDR81	124997	broad.mit.edu	37	chr17	1631634	1631634	+	Frame_Shift_Del	DEL	G	G	-													gaggagcgggctccagacgaGgggggtgcccccgtggacaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:1631633_1631633AG>A	uc002ftj.2	+	0	3509	c.3380_3380AG>A	c.(3379-3381)gagfs	p.E1127fs	WDR81_uc002fth.2_Frame_Shift_Del_p.E76fs|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCCAGACGAGGGGGGTGCC	0.662													-	1631634	G	-	1631634	7	5	275	1	0	1	0	1	0	0	0	0	17327	991	35	0	3445	0	WDR81	17	1631634	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	670371	1631634	79563576	1070	142135											
SRR	63826	broad.mit.edu	37	chr17	2226993	2226993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaaactactcattgaAcctacagctggtgttggagt	11	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:2226993A>G	uc002fue.1	+	8	917	c.849A>G	c.(847-849)GAA>GAG	p.E283E	SRR_uc002fui.1_Silent_p.E134E|TSR1_uc002fuj.2_3'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	283					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TACTCATTGAACCTACAGCTG	0.453													G	2226993	A	G	2226993	2	3	275	1	0	0	0	0	0	0	0	1	15165	40	2	3		3	SRR	17	2226993	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	595359	2226993	78968217	1071	142136											
TRPV1	7442	broad.mit.edu	37	chr17	3494642	3494642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcgacagagtcctgggacAgcagcctgtgggccagaaaa	15	11	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:3494642A>G	uc010vrr.1	-	2	817	c.290T>C	c.(289-291)CTG>CCG	p.L97P	TRPV1_uc010vro.1_Missense_Mutation_p.L97P|TRPV1_uc010vrp.1_Missense_Mutation_p.L97P|TRPV1_uc010vrq.1_Missense_Mutation_p.C72R|TRPV1_uc010vrs.1_Missense_Mutation_p.L97P|TRPV1_uc010vrt.1_Missense_Mutation_p.L97P|TRPV1_uc010vru.1_Missense_Mutation_p.L97P	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	97	Cytoplasmic (Potential).				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			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GTCCTGGGACAGCAGCCTGTG	0.582													G	3494642	A	G	3494642	3	3	275	1	0	0	0	0	1	0	0	0	16592	188	7	3	1958	3	TRPV1	17	3494642	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1267649	3494642	77700568	1072	142137											
ITGAE	3682	broad.mit.edu	37	chr17	3620083	3620083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcatctttcaggaagaCgacagtgatctagacaagac	8	10	4	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:3620083C>T	uc002fwo.3	-	30	3442	c.3343G>A	c.(3343-3345)GTC>ATC	p.V1115I	ITGAE_uc002fwn.3_RNA	NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	1115	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGAAGACGACAGTGATC	0.408													T	3620083	C	T	3620083	3	4	275	1	0	0	0	0	1	0	0	0	7885	536	19	1	204	1	ITGAE	17	3620083	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	125441	3620083	77575127	1073	142138											
ANKFY1	51479	broad.mit.edu	37	chr17	4085525	4085525	+	Frame_Shift_Del	DEL	G	G	-													ttgccaatgcaagccacagcGgggggttccccttctcatct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4085524_4085524CG>C	uc002fxn.3	-	14	2316	c.2199_2199CG>G	c.(2197-2199)ccgfs	p.P733fs	ANKFY1_uc002fxo.3_Frame_Shift_Del_p.P692fs|ANKFY1_uc002fxp.3_Frame_Shift_Del_p.P690fs|ANKFY1_uc010ckp.3_Frame_Shift_Del_p.P633fs|ANKFY1_uc002fxq.1_Frame_Shift_Del_p.P691fs	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	691						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						CAAGCCACAGCGGGGGGTTCC	0.542													-	4085525	G	-	4085525	7	5	275	1	0	1	0	1	0	0	0	0	626	1116	39	0	1481	0	ANKFY1	17	4085525	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	465442	4085525	77109685	1074	142139											
SPNS3	201305	broad.mit.edu	37	chr17	4389805	4389805	+	Frame_Shift_Del	DEL	G	G	-													tgcgcctttgtcatcgccctGgggggcggctgcttcctgct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4389804_4389804TG>T	uc002fxt.3	+	10	1420	c.1376_1376TG>T	c.(1375-1377)ctgfs	p.L459fs	SPNS3_uc002fxu.3_Frame_Shift_Del_p.L332fs|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	459					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						GTCATCGCCCTGGGGGGCGGC	0.657													-	4389805	G	-	4389805	7	5	275	1	0	1	0	1	0	0	0	0	15075	1335	47	0	1419	0	SPNS3	17	4389805	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	304280	4389805	76805405	1075	142140											
ZMYND15	84225	broad.mit.edu	37	chr17	4645308	4645308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacctttgcttcccttcGtgctcgaacctgccatgtgt	7	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4645308G>A	uc002fyt.2	+	4	965	c.926G>A	c.(925-927)CGT>CAT	p.R309H	CXCL16_uc002fyr.3_5'Flank|CXCL16_uc002fys.3_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.R309H|ZMYND15_uc002fyu.2_Missense_Mutation_p.R309H	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	309							zinc ion binding				0						GCTTCCCTTCGTGCTCGAACC	0.582													A	4645308	G	A	4645308	3	1	275	1	0	0	0	0	1	0	0	0	17705	1145	40	1	936	1	ZMYND15	17	4645308	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	255503	4645308	76549902	1076	142141											
CAMTA2	23125	broad.mit.edu	37	chr17	4885437	4885437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacgatggaagagtgaaCgtagcagccatagagacact	15	7	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4885437C>T	uc002gah.1	-	6	466	c.358G>A	c.(358-360)GTT>ATT	p.V120I	CAMTA2_uc010cku.1_Missense_Mutation_p.V143I|CAMTA2_uc002gag.1_Intron|CAMTA2_uc002gai.1_Missense_Mutation_p.V122I|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.1_5'UTR	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	120	CG-1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GAAGAGTGAACGTAGCAGCCA	0.592													T	4885437	C	T	4885437	3	4	275	1	0	0	0	0	1	0	0	0	2614	536	19	1	3372	1	CAMTA2	17	4885437	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	240129	4885437	76309773	1077	142142											
INCA1	388324	broad.mit.edu	37	chr17	4892840	4892843	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													cttccaaacatggcctcctcTtctttcttctccaaagcatt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:4892839_4892842CTTCT>C	uc002gak.3	-	5	556_559	c.276_279AGAAG>G	c.(274-279)aagaagfs	p.K92fs	CAMTA2_uc010cku.2_5'Flank|CAMTA2_uc002gag.2_5'Flank|CAMTA2_uc002gah.2_5'Flank|CAMTA2_uc002gai.2_5'Flank|CAMTA2_uc010vsu.2_5'Flank|INCA1_uc002gam.3_Frame_Shift_Del_p.K77fs|INCA1_uc002gaj.3_Frame_Shift_Del_p.K92fs|INCA1_uc002gal.3_Frame_Shift_Del_p.K77fs	NM_001167987	NP_001161459	Q0VD86	INCA1_HUMAN	Homo sapiens inhibitor of CDK, cyclin A1 interacting protein 1 (INCA1), transcript variant 2, mRNA.	92						nucleus				upper_aerodigestive_tract(1)	1						ATGGCCTCCTCTTCTTTCTTCTCC	0.578													-	4892843	TTCT	-	4892840	7	5	275	1	0	1	0	1	0	0	0	0	7732	1609	56	0	444	0	INCA1	17	4892840	Frame_Shift_Del	DEL	TTCT	TCGA-HU-A4GX-01A-12D-A25D-08	7403	4892840	76302370	1078	142143											
ALOX12	239	broad.mit.edu	37	chr17	6913317	6913317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgctccatgcacaatgCggatgcccccacccaccacc	6	19	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:6913317C>T	uc002gdx.3	+	13	1737	c.1684C>T	c.(1684-1686)CGG>TGG	p.R562W	uc002gdy.1_Intron|ALOX12_uc002gdz.3_Missense_Mutation_p.R32W|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	562	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			central_nervous_system(1)	1						ATGCACAATGCGGATGCCCCC	0.547													T	6913317	C	T	6913317	3	4	275	1	0	0	0	0	1	0	0	0	536	759	27	1	1734	1	ALOX12	17	6913317	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2020477	6913317	74281893	1079	142144											
EIF5A	1984	broad.mit.edu	37	chr17	7214736	7214736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtacgagaggaccttcGtctccctgagggagaccttg	15	10	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7214736G>A	uc010vtv.1	+	4	575	c.338G>A	c.(337-339)CGT>CAT	p.R113H	EIF5A_uc002gfr.2_Missense_Mutation_p.R143H|EIF5A_uc002gft.2_Missense_Mutation_p.R113H|EIF5A_uc002gfu.2_Missense_Mutation_p.R113H	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	113					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				0						GAGGACCTTCGTCTCCCTGAG	0.572													A	7214736	G	A	7214736	3	1	275	1	0	0	0	0	1	0	0	0	5041	1145	40	1	442	1	EIF5A	17	7214736	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	301419	7214736	73980474	1080	142145											
ACAP1	9744	broad.mit.edu	37	chr17	7250404	7250404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggctctggtggaatgGccaggggaagggagcctggg	20	9	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7250404G>A	uc002ggd.2	+	14	1392	c.1186G>A	c.(1186-1188)GCC>ACC	p.A396T		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	396					intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						TGGTGGAATGGCCAGGGGAAG	0.677													A	7250404	G	A	7250404	3	1	275	1	0	0	0	0	1	0	0	0	118	1203	42	2	1240	2	ACAP1	17	7250404	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	35668	7250404	73944806	1081	142146											
AMAC1L3	643664	broad.mit.edu	37	chr17	7386191	7386191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggcccttatactGcagtattatatgctccatga	11	8	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7386191G>A	uc010cmj.1	+	2	1003	c.888G>A	c.(886-888)CTG>CTA	p.L296L	ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	296	DUF6 2.|Helical; (Potential).					integral to membrane					0		Prostate(122;0.173)				CCCTTATACTGCAGTATTATA	0.577													A	7386191	G	A	7386191	2	1	275	1	0	0	0	0	0	0	0	1	561	1306	46	2		2	AMAC1L3	17	7386191	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	135787	7386191	73809019	1082	142147											
FXR2	9513	broad.mit.edu	37	chr17	7495831	7495831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggctgacctggctggcGgtctccactgatagagccat	13	11	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7495831G>A	uc002gia.1	-	15	2043	c.1816C>T	c.(1816-1818)CGC>TGC	p.R606C	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	606						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		CCTGGCTGGCGGTCTCCACTG	0.557													A	7495831	G	A	7495831	3	1	275	1	0	0	0	0	1	0	0	0	6116	1116	39	1	117	1	FXR2	17	7495831	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	109640	7495831	73699379	1083	142148											
TP53	7157	broad.mit.edu	37	chr17	7579473	7579473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgcaggggccacggGgggagcagcctctggcattc	18	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7579473G>A	uc002gim.2	-	4	408	c.214C>T	c.(214-216)CCC>TCC	p.P72S	TP53_uc002gig.1_Missense_Mutation_p.P72S|TP53_uc002gih.2_Missense_Mutation_p.P72S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72S|TP53_uc010cni.1_Missense_Mutation_p.P72S|TP53_uc002gij.2_Missense_Mutation_p.P72S|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33S|TP53_uc010cnk.1_Missense_Mutation_p.P87S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	72	Interaction with WWOX.|Interaction with HRMT1L2.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGGGCCACGGGGGGAGCAGCC	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7579473	G	A	7579473	3	1	275	1	0	0	0	0	1	0	0	0	16378	1232	43	4	1088	4	TP53	17	7579473	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	83642	7579473	73615737	1084	142149											
CHD3	1107	broad.mit.edu	37	chr17	7814252	7814252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctggccgccgcaggcGccaattacagccagatgcct	13	16	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:7814252G>A	uc002gje.2	+	39	5992	c.5842G>A	c.(5842-5844)GCC>ACC	p.A1948T	CHD3_uc002gjd.2_Missense_Mutation_p.A2007T|CHD3_uc002gjf.2_Missense_Mutation_p.A1914T|CHD3_uc002gjh.2_Missense_Mutation_p.A525T|CHD3_uc002gjj.2_Missense_Mutation_p.A111T	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1948	Required for interaction with PCNT.				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(1)	1		Prostate(122;0.202)				CGCCGCAGGCGCCAATTACAG	0.627													A	7814252	G	A	7814252	3	1	275	1	0	0	0	0	1	0	0	0	3326	1087	38	1	6277	1	CHD3	17	7814252	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	234779	7814252	73380958	1085	142150											
MFSD6L	162387	broad.mit.edu	37	chr17	8701011	8701011	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtcctctactgaggcCcccacagcccaccacaaagc	8	19	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:8701011C>A	uc002glp.1	-	1	1576	c.1428G>T	c.(1426-1428)GGG>GGT	p.G476G		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	476	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						CTACTGAGGCCCCCACAGCCC	0.592													A	8701011	C	A	8701011	2	1	275	1	0	0	0	0	0	0	0	1	9536	610	22	5		5	MFSD6L	17	8701011	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	886759	8701011	72494199	1086	142151											
MYH4	4622	broad.mit.edu	37	chr17	10362628	10362628	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcaatgaactcccactcGatgccttccttcttgtactc	5	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:10362628G>A	uc002gmn.2	-	15	1638	c.1527C>T	c.(1525-1527)ATC>ATT	p.I509I	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	509	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			ovary(10)|skin(2)|central_nervous_system(1)	13						ACTCCCACTCGATGCCTTCCT	0.473													A	10362628	G	A	10362628	2	1	275	1	0	0	0	0	0	0	0	1	10037	1048	37	1		1	MYH4	17	10362628	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1661617	10362628	70832582	1087	142152											
MYH2	4620	broad.mit.edu	37	chr17	10440997	10440997	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaccttctcgatgagctcGatgcaggcagccaggtccat	10	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:10440997G>A	uc010coi.2	-	15	1700	c.1572C>T	c.(1570-1572)ATC>ATT	p.I524I	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I524I|MYH2_uc010coj.2_Silent_p.I524I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	524	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			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CGATGAGCTCGATGCAGGCAG	0.433													A	10440997	G	A	10440997	2	1	275	1	0	0	0	0	0	0	0	1	10035	1048	37	1		1	MYH2	17	10440997	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	78369	10440997	70754213	1088	142153											
DNAH9	1770	broad.mit.edu	37	chr17	11656223	11656223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggattttactggatggCgacatagatccaatgtggat	12	5	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:11656223C>T	uc002gne.2	+	33	6752	c.6684C>T	c.(6682-6684)GGC>GGT	p.G2228G	DNAH9_uc010coo.2_Silent_p.G1522G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2228	AAA 2 (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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		TACTGGATGGCGACATAGATC	0.433													T	11656223	C	T	11656223	2	4	275	1	0	0	0	0	0	0	0	1	4608	755	27	1		1	DNAH9	17	11656223	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1215226	11656223	69538987	1089	142154											
MYOCD	93649	broad.mit.edu	37	chr17	12626278	12626279	+	Frame_Shift_Ins	INS	-	-	A													gggccactggagctggtggaINSaaaaaacattcttcctgtgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:12626277_12626278G>GA	uc002gno.2	+	4	666_667	c.367_368G>GA	c.(367-369)gaafs	p.E123fs	MYOCD_uc002gnn.2_Frame_Shift_Ins_p.E123fs|MYOCD_uc002gnp.1_Frame_Shift_Ins_p.E27fs	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	123					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	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|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)		GGAGCTGGTGGAAAAAAACATT	0.47													A	12626279	-	A	12626278	7	5	275	1	0	1	1	0	0	0	0	0	10087	246	9	0	386	0	MYOCD	17	12626278	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	970055	12626278	68568932	1090	142155											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400018	13400018	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgggtcccgcaccaccacGatgagcttggtgtccttgga	12	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:13400018G>A	uc002gob.1	-	2	1515	c.717C>T	c.(715-717)ATC>ATT	p.I239I		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	239	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCACCACCACGATGAGCTTGG	0.637													A	13400018	G	A	13400018	2	1	275	1	0	0	0	0	0	0	0	1	7365	1048	37	1		1	HS3ST3A1	17	13400018	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	773740	13400018	67795192	1091	142156											
NCOR1	9611	broad.mit.edu	37	chr17	16024412	16024412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggggctcttcagtagcCgctgcggctgcagcactggc	17	12	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:16024412C>T	uc002gpo.2	-	16	2046	c.1806G>A	c.(1804-1806)GCG>GCA	p.A602A	NCOR1_uc002gpn.2_Silent_p.A602A|NCOR1_uc002gpp.1_Silent_p.A493A|NCOR1_uc002gpr.2_Silent_p.A493A	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	602	Poly-Ala.				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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTCAGTAGCCGCTGCGGCTG	0.587													T	16024412	C	T	16024412	2	4	275	1	0	0	0	0	0	0	0	1	10235	639	23	1		1	NCOR1	17	16024412	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2624394	16024412	65170798	1092	142157											
TRPV2	51393	broad.mit.edu	37	chr17	16326906	16326906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcaacacagtcctgcAtgccctagtgatgatctcgg	11	13	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:16326906A>G	uc002gpy.2	+	5	1116	c.749A>G	c.(748-750)CAT>CGT	p.H250R	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	250	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 5.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACAGTCCTGCATGCCCTAGTG	0.602													G	16326906	A	G	16326906	3	3	275	1	0	0	0	0	1	0	0	0	16593	217	8	3	763	3	TRPV2	17	16326906	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	302494	16326906	64868304	1093	142158											
SREBF1	6720	broad.mit.edu	37	chr17	17723585	17723585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccaggggagaaagcGggcatggacgggtacatctt	16	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:17723585G>A	uc002gru.1	-	2	536	c.342C>T	c.(340-342)CCC>CCT	p.P114P	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Silent_p.P90P|SREBF1_uc002grt.1_Silent_p.P144P|SREBF1_uc010cpp.1_Silent_p.P90P|SREBF1_uc010cpq.1_Silent_p.P114P	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	114	Pro/Ser-rich.|Cytoplasmic (Potential).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGGAGAAAGCGGGCATGGACG	0.657													A	17723585	G	A	17723585	2	1	275	1	0	0	0	0	0	0	0	1	15140	1103	39	1		1	SREBF1	17	17723585	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1396679	17723585	63471625	1094	142159											
MYO15A	51168	broad.mit.edu	37	chr17	18022705	18022705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcagccgcagcatctaCgcgtcaggcgagcccctggg	13	18	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:18022705C>T	uc010vxh.1	+	2	929	c.591C>T	c.(589-591)TAC>TAT	p.Y197Y		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	197	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCAGCATCTACGCGTCAGGCG	0.706													T	18022705	C	T	18022705	2	4	275	1	0	0	0	0	0	0	0	1	10063	547	19	1		1	MYO15A	17	18022705	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	299120	18022705	63172505	1095	142160											
SHMT1	6470	broad.mit.edu	37	chr17	18251660	18251660	+	Frame_Shift_Del	DEL	C	C	-													tgagtagggctggacgttgaCcccccagcactgtgggtcca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:18251659_18251659AC>A	uc002gta.3	-	3	528	c.338_338GT>T	c.(337-339)gtcfs	p.V113fs	SHMT1_uc002gtb.3_Frame_Shift_Del_p.V113fs|SHMT1_uc010vxt.2_Intron|SHMT1_uc002gtd.1_Frame_Shift_Del_p.V113fs|SHMT1_uc010vxu.1_Frame_Shift_Del_p.V113fs	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	113					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGACGTTGACCCCCCAGCA	0.562													-	18251660	C	-	18251660	7	5	275	1	0	1	0	1	0	0	0	0	14285	507	18	0	1150	0	SHMT1	17	18251660	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	228955	18251660	62943550	1096	142161											
SLC5A10	125206	broad.mit.edu	37	chr17	18872443	18872443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctccaccatcctcacgctcGgcatcacagccctgtacacc	5	20	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:18872443G>T	uc002guu.1	+	6	573	c.532G>T	c.(532-534)GGC>TGC	p.G178C	SLC5A10_uc002gur.1_Missense_Mutation_p.G122C|SLC5A10_uc002gut.1_Missense_Mutation_p.G178C|SLC5A10_uc002guv.1_Missense_Mutation_p.G178C|SLC5A10_uc010vyl.1_Missense_Mutation_p.G178C	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	178	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CCTCACGCTCGGCATCACAGC	0.622													T	18872443	G	T	18872443	3	4	275	1	0	0	0	0	1	0	0	0	14662	1116	39	5	554	5	SLC5A10	17	18872443	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	620783	18872443	62322767	1097	142162											
ULK2	9706	broad.mit.edu	37	chr17	19729453	19729453	+	Splice_Site	DEL	T	T	-													acaaaaaatggatactcacaTttttttactggaccttgctc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:19729452_19729452AT>A	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					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)					GGATACTCACATTTTTTTACT	0.294													-	19729453	T	-	19729453	8	5	275	1	0	1	0	1	0	0	1	0	16973	1507	52	0	2344	0	ULK2	17	19729453	Splice_Site	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	857010	19729453	61465757	1098	142163											
SUPT6H	6830	broad.mit.edu	37	chr17	27008369	27008369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaagatgcagaacgccgCcaaagctagccgcaagaagc	10	14	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27008369C>T	uc002hby.2	+	12	1535	c.1445C>T	c.(1444-1446)GCC>GTC	p.A482V	SUPT6H_uc010crt.2_Missense_Mutation_p.A482V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	482					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CAGAACGCCGCCAAAGCTAGC	0.428													T	27008369	C	T	27008369	3	4	275	1	0	0	0	0	1	0	0	0	15397	739	26	2	1487	2	SUPT6H	17	27008369	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	7278916	27008369	54186841	1099	142164											
NEK8	284086	broad.mit.edu	37	chr17	27064512	27064512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacctccacaccgacgtGggcagtgtccgcatgcggag	12	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27064512G>A	uc002hcp.2	+	5	807	c.807G>A	c.(805-807)GTG>GTA	p.V269V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	269						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					ACACCGACGTGGGCAGTGTCC	0.677													A	27064512	G	A	27064512	2	1	275	1	0	0	0	0	0	0	0	1	10330	1335	47	4		4	NEK8	17	27064512	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	56143	27064512	54130698	1100	142165											
NEK8	284086	broad.mit.edu	37	chr17	27068452	27068452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgaagtgtactcttgggGcaaaggggcgcgaggtcgat	18	7	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27068452G>A	uc002hcp.2	+	14	1913	c.1913G>A	c.(1912-1914)GGC>GAC	p.G638D	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	638	RCC1 5.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					TACTCTTGGGGCAAAGGGGCG	0.607													A	27068452	G	A	27068452	3	1	275	1	0	0	0	0	1	0	0	0	10330	1203	42	2	1967	2	NEK8	17	27068452	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3940	27068452	54126758	1101	142166											
ANKRD13B	124930	broad.mit.edu	37	chr17	27937743	27937743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcatcacccgcacacGgacagaacatctttcagaac	8	14	4	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:27937743G>A	uc002hei.2	+	8	976	c.863G>A	c.(862-864)CGG>CAG	p.R288Q	ANKRD13B_uc002heh.2_Missense_Mutation_p.R156Q|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	288											0						ACCCGCACACGGACAGAACAT	0.547													A	27937743	G	A	27937743	3	1	275	1	0	0	0	0	1	0	0	0	642	1116	39	1	893	1	ANKRD13B	17	27937743	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	869291	27937743	53257467	1102	142167											
PSMD11	5717	broad.mit.edu	37	chr17	30796128	30796128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcaacctgccgaaagcccGagctgccttaacttctgctc	9	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:30796128G>A	uc010cta.1	+	6	600	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	PSMD11_uc010wbz.1_Missense_Mutation_p.R187Q|PSMD11_uc002hhm.2_Missense_Mutation_p.R187Q	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	187					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			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CCGAAAGCCCGAGCTGCCTTA	0.502													A	30796128	G	A	30796128	3	1	275	1	0	0	0	0	1	0	0	0	12694	1058	37	1	582	1	PSMD11	17	30796128	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2858385	30796128	50399082	1103	142168											
AP2B1	163	broad.mit.edu	37	chr17	33977595	33977595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggctatatttattggcGccttctctcaactgaccctg	9	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:33977595G>A	uc002hjr.2	+	13	1772	c.1583G>A	c.(1582-1584)CGC>CAC	p.R528H	AP2B1_uc002hjq.2_Missense_Mutation_p.R528H|AP2B1_uc010wci.1_Missense_Mutation_p.R490H|AP2B1_uc002hjs.2_Missense_Mutation_p.R471H|AP2B1_uc002hjt.2_Missense_Mutation_p.R528H|AP2B1_uc010ctv.2_Missense_Mutation_p.R528H|AP2B1_uc010wcj.1_Missense_Mutation_p.R265H	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	528					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			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATTTATTGGCGCCTTCTCTCA	0.463													A	33977595	G	A	33977595	3	1	275	1	0	0	0	0	1	0	0	0	741	1087	38	1	1629	1	AP2B1	17	33977595	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3181467	33977595	47217615	1104	142169											
MRM1	79922	broad.mit.edu	37	chr17	34964728	34964728	+	Frame_Shift_Del	DEL	G	G	-													aggaagggtttccccacagaGggggagagaaggcagcttct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:34964727_34964727AG>A	uc002hne.3	+	4	1153	c.938_938AG>A	c.(937-939)gagfs	p.E313fs	MRM1_uc002hnf.3_Frame_Shift_Del_p.E118fs	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	313					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCCCCACAGAGGGGGAGAGA	0.567													-	34964728	G	-	34964728	7	5	275	1	0	1	0	1	0	0	0	0	9771	991	35	0	957	0	MRM1	17	34964728	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	987133	34964728	46230482	1105	142170											
CWC25	54883	broad.mit.edu	37	chr17	36962649	36962649	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaccttagagttgtgcCtgtagcagacacagaaggca	11	9	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:36962649C>T	uc002hqu.2	-	8	1056	c.903_splice	c.e8-1	p.L301_splice	CWC25_uc010wdv.1_Splice_Site_p.L238_splice|CWC25_uc010wdw.1_Splice_Site	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49												0						AGAGTTGTGCCTGTAGCAGAC	0.488													T	36962649	C	T	36962649	5	4	275	1	0	0	0	0	0	0	1	0	4069	695	24	4	387	4	CWC25	17	36962649	Splice_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1997921	36962649	44232561	1106	142171											
CASC3	22794	broad.mit.edu	37	chr17	38320262	38320262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccagcacctccagtcccAgaaaccaccccaactccacc	3	21	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:38320262A>G	uc010cwt.1	+	7	1609	c.1314A>G	c.(1312-1314)CCA>CCG	p.P438P	CASC3_uc010cws.1_Silent_p.P438P|CASC3_uc002hue.2_Silent_p.P438P	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	438	Necessary for localization in cytoplasmic stress granules.				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			ovary(1)	1						CTCCAGTCCCAGAAACCACCC	0.532													G	38320262	A	G	38320262	2	3	275	1	0	0	0	0	0	0	0	1	2661	175	7	3		3	CASC3	17	38320262	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1357613	38320262	42874948	1107	142172											
KRTAP4-4	84616	broad.mit.edu	37	chr17	39316818	39316818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtctgcagcagctggaCacacagcagctggggcggca	17	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:39316818C>T	uc002hwc.2	-	1	166	c.126G>A	c.(124-126)GTG>GTA	p.V42V		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	42	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].|5.		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGACACACAGCAGC	0.657													T	39316818	C	T	39316818	2	4	275	1	0	0	0	0	0	0	0	1	8553	465	17	4		4	KRTAP4-4	17	39316818	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	996556	39316818	41878392	1108	142173											
KRT31	3881	broad.mit.edu	37	chr17	39553720	39553720	+	Frame_Shift_Del	DEL	G	G	-													agggtgcagctgtggcagctGgggggcacgcagggccggga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:39553719_39553719TG>T	uc002hwn.3	-	0	126	c.73_73CA>A	c.(73-75)agcfs	p.S25fs	KRT31_uc010cxn.3_Frame_Shift_Del_p.S25fs	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	25	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTGTGGCAGCTGGGGGGCACG	0.657													-	39553720	G	-	39553720	7	5	275	1	0	1	0	1	0	0	0	0	8467	1335	47	0	1206	0	KRT31	17	39553720	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	236902	39553720	41641490	1109	142174											
ACLY	47	broad.mit.edu	37	chr17	40065856	40065856	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacaagcagcttctgggccTtggcgtccacatcacccacg	9	16	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:40065856T>G	uc002hyg.2	-	5	606	c.443A>C	c.(442-444)AAG>ACG	p.K148T	ACLY_uc002hyh.2_Missense_Mutation_p.K148T|ACLY_uc002hyi.2_Missense_Mutation_p.K202T|ACLY_uc010wfx.1_Missense_Mutation_p.K202T|ACLY_uc010wfy.1_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	148					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			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CTTCTGGGCCTTGGCGTCCAC	0.542													G	40065856	T	G	40065856	3	3	275	1	0	0	0	0	1	0	0	0	143	1609	56	5	2962	5	ACLY	17	40065856	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	512136	40065856	41129354	1110	142175											
MLX	6945	broad.mit.edu	37	chr17	40720502	40720502	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggctttttgtagaaAgcacccgcaaggggagtgta	13	8	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:40720502A>T	uc002iag.2	+	3	321	c.256A>T	c.(256-258)AGC>TGC	p.S86C	MLX_uc002iaf.2_Missense_Mutation_p.S32C|MLX_uc002iah.2_Intron	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	86	Basic motif.				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTTTGTAGAAAGCACCCGCAA	0.547													T	40720502	A	T	40720502	3	4	275	1	0	0	0	0	1	0	0	0	9635	72	3	5	266	5	MLX	17	40720502	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	654646	40720502	40474708	1111	142176											
ETV4	2118	broad.mit.edu	37	chr17	41610701	41610701	+	Frame_Shift_Del	DEL	G	G	-													gacttgatggcgatttgtctGggggggtcataggcactgga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:41610700_41610700TG>T	uc002idw.3	-	6	528	c.400_400CA>A	c.(400-402)agafs	p.R134fs	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Intron|ETV4_uc010czh.3_Frame_Shift_Del_p.R133fs|ETV4_uc010wii.2_Frame_Shift_Del_p.R95fs|ETV4_uc002idx.3_Frame_Shift_Del_p.R134fs|ETV4_uc010wij.2_Frame_Shift_Del_p.R95fs|ETV4_uc002idy.1_Frame_Shift_Del_p.R95fs	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	134					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCA	0.582			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								-	41610701	G	-	41610701	7	5	275	1	0	1	0	1	0	0	0	0	5281	1335	47	0	1083	0	ETV4	17	41610701	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	890199	41610701	39584509	1112	142177											
MPP3	4356	broad.mit.edu	37	chr17	41898340	41898340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccacctccaggacctgCctgcgctggaagggcaggcc	12	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:41898340C>T	uc002iei.3	-	11	937	c.771G>A	c.(769-771)AGG>AGA	p.R257R	MPP3_uc002ieh.2_Silent_p.R282R|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.R257R|MPP3_uc010wik.1_Silent_p.R282R	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	257	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CCAGGACCTGCCTGCGCTGGA	0.682													T	41898340	C	T	41898340	2	4	275	1	0	0	0	0	0	0	0	1	9735	738	26	2		2	MPP3	17	41898340	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	287639	41898340	39296870	1113	142178											
SLC4A1	6521	broad.mit.edu	37	chr17	42335477	42335477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaataggggtagcggcgccGgatatcacgcaccaggcccc	14	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:42335477G>A	uc002igf.3	-	11	1308	c.1159C>T	c.(1159-1161)CGG>TGG	p.R387W	SLC4A1_uc002igg.3_Missense_Mutation_p.R387W	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	387	Cytoplasmic.				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			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TAGCGGCGCCGGATATCACGC	0.582													A	42335477	G	A	42335477	3	1	275	1	0	0	0	0	1	0	0	0	14650	1115	39	1	1616	1	SLC4A1	17	42335477	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	437137	42335477	38859733	1114	142179											
GPATCH8	23131	broad.mit.edu	37	chr17	42476612	42476612	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtatgactccgagatcGgcttcgggactggctgcaac	13	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:42476612G>A	uc002igw.1	-	8	2897	c.2833C>T	c.(2833-2835)CGA>TGA	p.R945*	GPATCH8_uc002igv.1_Nonsense_Mutation_p.R867*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.R867*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	945	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTCCGAGATCGGCTTCGGGAC	0.542													A	42476612	G	A	42476612	4	1	275	1	0	0	0	0	0	1	0	0	6594	1124	39	1	1679	1	GPATCH8	17	42476612	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	141135	42476612	38718598	1115	142180											
GPATCH8	23131	broad.mit.edu	37	chr17	42477897	42477897	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggggtggccagagaGgtttctttagaagagttgga	16	6	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:42477897G>T	uc002igw.1	-	8	1612	c.1548C>A	c.(1546-1548)ACC>ACA	p.T516T	GPATCH8_uc002igv.1_Silent_p.T438T|GPATCH8_uc010wiz.1_Silent_p.T438T	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	516						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGCCAGAGAGGTTTCTTTAG	0.478											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	42477897	G	T	42477897	2	4	275	1	0	0	0	0	0	0	0	1	6594	987	35	5		5	GPATCH8	17	42477897	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1285	42477897	38717313	1116	142181											
NMT1	4836	broad.mit.edu	37	chr17	43181224	43181224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagacctcatgagcgacGcccttgtcctcgccaaaatg	8	14	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:43181224G>A	uc002ihz.2	+	10	1330	c.1312G>A	c.(1312-1314)GCC>ACC	p.A438T	NMT1_uc002iia.2_RNA|NMT1_uc010dad.1_Missense_Mutation_p.A98T	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	438					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				0		Prostate(33;0.155)				CATGAGCGACGCCCTTGTCCT	0.567													A	43181224	G	A	43181224	3	1	275	1	0	0	0	0	1	0	0	0	10503	1087	38	1	1350	1	NMT1	17	43181224	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	703327	43181224	38013986	1117	142182											
OSBPL7	114881	broad.mit.edu	37	chr17	45894054	45894054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacagagccatggagaCgaccaacctgtaggtgaagg	15	8	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:45894054C>T	uc002ilx.1	-	10	1006	c.803G>A	c.(802-804)CGT>CAT	p.R268H	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	268					lipid transport		lipid binding				0						GCCATGGAGACGACCAACCTG	0.642													T	45894054	C	T	45894054	3	4	275	1	0	0	0	0	1	0	0	0	11282	536	19	1	1781	1	OSBPL7	17	45894054	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2712830	45894054	35301156	1118	142183											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	275	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	2539913	48433967	32761243	1119	142184											
CHAD	1101	broad.mit.edu	37	chr17	48543170	48543170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagggtagctggttcaagCggttgttctccaaatggacg	15	7	2	0	rs142146358		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48543170C>T	uc010dbr.2	-	2	889	c.836G>A	c.(835-837)CGC>CAC	p.R279H	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.R279H|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	279	LRR 9.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTGGTTCAAGCGGTTGTTCTC	0.473													T	48543170	C	T	48543170	3	4	275	1	0	0	0	0	1	0	0	0	3310	768	27	1	251	1	CHAD	17	48543170	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	109203	48543170	32652040	1120	142185											
CHAD	1101	broad.mit.edu	37	chr17	48545679	48545679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttggctccctggaaggCgcctgcgcgcagctcacgga	14	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48545679C>T	uc010dbr.2	-	1	549	c.496G>A	c.(496-498)GCC>ACC	p.A166T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.A166T|ACSF2_uc010dbt.1_5'Flank	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	166	LRR 4.			A -> P (in Ref. 1; AAC13410).	regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCCTGGAAGGCGCCTGCGCGC	0.632													T	48545679	C	T	48545679	3	4	275	1	0	0	0	0	1	0	0	0	3310	768	27	1	595	1	CHAD	17	48545679	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2509	48545679	32649531	1121	142186											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917804	48917804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcgggccgctggccgcGtgcagcctgcccgccctgca	15	17	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:48917804G>A	uc002isv.3	+	2	1849	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A	WFIKKN2_uc010dbu.2_Silent_p.A292A	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	385						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGCTGGCCGCGTGCAGCCTGC	0.647													A	48917804	G	A	48917804	2	1	275	1	0	0	0	0	0	0	0	1	17356	1132	40	1		1	WFIKKN2	17	48917804	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	372125	48917804	32277406	1122	142187											
COX11	1353	broad.mit.edu	37	chr17	53040139	53040140	+	Frame_Shift_Ins	INS	-	-	A													tgtgcccttcctttgcttcaINSaaaaaagtgtaagaaagagt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:53040138_53040139C>CA	uc010wng.1	-	3	843_844	c.786_787G>TG	c.(784-789)tttgaafs	p.F262fs	COX11_uc010wne.1_Intron|COX11_uc010wnf.1_Intron|COX11_uc002iue.2_Non-coding_Transcript	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	Homo sapiens COX11 cytochrome c oxidase assembly homolog (yeast) (COX11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	262					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						TCCTTTGCTTCAAAAAAAGTGT	0.351													A	53040140	-	A	53040139	7	5	275	1	0	1	1	0	0	0	0	0	3763	127	5	0	114	0	COX11	17	53040139	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	4122335	53040139	28155071	1123	142188											
MKS1	54903	broad.mit.edu	37	chr17	56290388	56290388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctccggctgtgcGtggggggaaacattgtcgat	13	12	0	0	rs117617624	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:56290388G>A	uc002ivr.1	-	8	888	c.813C>T	c.(811-813)CAC>CAT	p.H271H	MKS1_uc010wnq.1_Silent_p.H68H|MKS1_uc002ivs.1_Silent_p.H271H	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	271					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						CCGGCTGTGCGTGGGGGGAAA	0.532													A	56290388	G	A	56290388	2	1	275	1	0	0	0	0	0	0	0	1	9609	1136	40	1		1	MKS1	17	56290388	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3250249	56290388	24904822	1124	142189											
TEX14	56155	broad.mit.edu	37	chr17	56676886	56676886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtgctggggctgctgGcctcttctgccataaatgga	13	11	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:56676886G>A	uc010dcz.1	-	14	1956	c.1838C>T	c.(1837-1839)GCC>GTC	p.A613V	TEX14_uc002iwr.1_Missense_Mutation_p.A607V|TEX14_uc002iws.1_Missense_Mutation_p.A607V|TEX14_uc010dda.1_Missense_Mutation_p.A387V	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	613						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCTGCTGGCCTCTTCTGC	0.532													A	56676886	G	A	56676886	3	1	275	1	0	0	0	0	1	0	0	0	15775	1203	42	2	2735	2	TEX14	17	56676886	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	386498	56676886	24518324	1125	142190											
PPM1E	22843	broad.mit.edu	37	chr17	57049544	57049544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatcagaggcaacatgCtacatgtggcctgggtgggt	13	9	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:57049544C>T	uc002iwx.2	+	5	1151	c.1024C>T	c.(1024-1026)CTA>TTA	p.L342L	PPM1E_uc010ddd.2_Silent_p.L105L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	351	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AGGCAACATGCTACATGTGGC	0.433													T	57049544	C	T	57049544	2	4	275	1	0	0	0	0	0	0	0	1	12338	796	28	2		2	PPM1E	17	57049544	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	372658	57049544	24145666	1126	142191											
HEATR6	63897	broad.mit.edu	37	chr17	58134441	58134441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtcgcatgggggatggttCgtaggtgcttcctgctgcag	16	9	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:58134441C>T	uc002iyk.1	-	12	2064	c.2047G>A	c.(2047-2049)GAA>AAA	p.E683K	HEATR6_uc010ddk.1_Missense_Mutation_p.E222K|HEATR6_uc010wos.1_Missense_Mutation_p.E515K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	683							binding			ovary(1)|skin(1)	2	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)			GGGGATGGTTCGTAGGTGCTT	0.388													T	58134441	C	T	58134441	3	4	275	1	0	0	0	0	1	0	0	0	7033	893	31	1	1534	1	HEATR6	17	58134441	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1084897	58134441	23060769	1127	142192											
HEATR6	63897	broad.mit.edu	37	chr17	58150607	58150607	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtcactcaacttcattaAgagtccggtgttgcctagca	8	11	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:58150607A>C	uc002iyk.1	-	4	519	c.502T>G	c.(502-504)TTA>GTA	p.L168V	HEATR6_uc010wos.1_5'UTR	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	168	HEAT 1.						binding			ovary(1)|skin(1)	2	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)			AACTTCATTAAGAGTCCGGTG	0.418													C	58150607	A	C	58150607	3	2	275	1	0	0	0	0	1	0	0	0	7033	69	3	5	3111	5	HEATR6	17	58150607	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	16166	58150607	23044603	1128	142193											
MRC2	9902	broad.mit.edu	37	chr17	60743868	60743868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgactgacagctgctaCcagtttaacttccagtccac	7	14	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:60743868C>T	uc002jad.2	+	4	1149	c.747C>T	c.(745-747)TAC>TAT	p.Y249Y	MRC2_uc002jac.2_Silent_p.Y249Y	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	249	Extracellular (Potential).|C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACAGCTGCTACCAGTTTAACT	0.627													T	60743868	C	T	60743868	2	4	275	1	0	0	0	0	0	0	0	1	9758	518	18	4		4	MRC2	17	60743868	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2593261	60743868	20451342	1129	142194											
STRADA	92335	broad.mit.edu	37	chr17	61804044	61804044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaacaatgaacttttcCgagacccaccgctaaagagg	7	14	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:61804044C>T	uc002jbm.2	-	3	207	c.48G>A	c.(46-48)TCG>TCA	p.S16S	STRADA_uc002jbn.2_5'UTR|STRADA_uc002jbo.2_Intron|STRADA_uc002jbp.2_Intron|STRADA_uc002jbq.2_5'UTR|STRADA_uc010wpq.1_Silent_p.S16S|STRADA_uc010wpr.1_Intron|STRADA_uc010ddw.2_Intron|STRADA_uc002jbr.2_5'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	16					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			ovary(1)	1						TGAACTTTTCCGAGACCCACC	0.388													T	61804044	C	T	61804044	2	4	275	1	0	0	0	0	0	0	0	1	15323	639	23	1		1	STRADA	17	61804044	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1060176	61804044	19391166	1130	142195											
PSMC5	5705	broad.mit.edu	37	chr17	61907507	61907507	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggtacatcctgaaggTaaatttgttgtagacgtgga	11	5	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:61907507T>A	uc002jcb.2	+	5	320	c.279T>A	c.(277-279)GGT>GGA	p.G93G	FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Silent_p.G70G|PSMC5_uc010ddz.2_Silent_p.G14G|PSMC5_uc002jcc.2_Silent_p.G85G|PSMC5_uc002jcd.2_Silent_p.G85G	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	93					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						ATCCTGAAGGTAAATTTGTTG	0.458													A	61907507	T	A	61907507	2	1	275	1	0	0	0	0	0	0	0	1	12690	1625	57	5		5	PSMC5	17	61907507	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	103463	61907507	19287703	1131	142196											
GH2	2689	broad.mit.edu	37	chr17	61958243	61958243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctcctgaggagctgcacGggctccagccatgactggat	13	13	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:61958243G>A	uc002jco.1	-	4	407	c.345C>T	c.(343-345)CCC>CCT	p.P115P	GH2_uc002jcj.2_Silent_p.P115P|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.P115P|GH2_uc002jcm.1_Silent_p.P115P|GH2_uc002jcn.1_Silent_p.P100P	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	115						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						GGAGCTGCACGGGCTCCAGCC	0.627													A	61958243	G	A	61958243	2	1	275	1	0	0	0	0	0	0	0	1	6368	1103	39	1		1	GH2	17	61958243	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	50736	61958243	19236967	1132	142197											
TEX2	55852	broad.mit.edu	37	chr17	62232285	62232285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagccagcgctggaggaTtcctcatcgctgtccgccag	14	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:62232285T>C	uc002jec.2	-	9	3020	c.2847A>G	c.(2845-2847)GAA>GAG	p.E949E	TEX2_uc002jed.2_Silent_p.E956E|TEX2_uc002jee.2_Silent_p.E949E	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	949					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGCTGGAGGATTCCTCATCGC	0.622													C	62232285	T	C	62232285	2	2	275	1	0	0	0	0	0	0	0	1	15778	1490	52	3		3	TEX2	17	62232285	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	274042	62232285	18962925	1133	142198											
GNA13	10672	broad.mit.edu	37	chr17	63052529	63052529	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctgcttcaggaaggtggaCttgccgctctcgcccgcgcc	12	15	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:63052529C>G	uc002jfc.2	-	1	392	c.183G>C	c.(181-183)AAG>AAC	p.K61N	GNA13_uc010wqh.1_5'Flank	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	61	GTP (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0						GGAAGGTGGACTTGCCGCTCT	0.592													G	63052529	C	G	63052529	3	3	275	1	0	0	0	0	1	0	0	0	6501	564	20	5	966	5	GNA13	17	63052529	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	820244	63052529	18142681	1134	142199											
CACNG1	786	broad.mit.edu	37	chr17	65052301	65052301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcctcctctttctcGgcggtctcgccctcctgctg	7	19	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:65052301G>A	uc002jfu.2	+	4	654	c.583G>A	c.(583-585)GGC>AGC	p.G195S		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	195	Helical; (Potential).				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	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)	CCTCTTTCTCGGCGGTCTCGC	0.612													A	65052301	G	A	65052301	3	1	275	1	0	0	0	0	1	0	0	0	2556	1116	39	1	597	1	CACNG1	17	65052301	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1999772	65052301	16142909	1135	142200											
HELZ	9931	broad.mit.edu	37	chr17	65074496	65074496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctttggaggggcccGcagagcgctggcataggaca	17	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:65074496G>A	uc010wqk.1	-	33	5891	c.5704C>T	c.(5704-5706)CGG>TGG	p.R1902W	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1901W	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGAGGGGCCCGCAGAGCGCTG	0.632													A	65074496	G	A	65074496	3	1	275	1	0	0	0	0	1	0	0	0	7049	1086	38	1	131	1	HELZ	17	65074496	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	22195	65074496	16120714	1136	142201											
SLC39A11	201266	broad.mit.edu	37	chr17	71084796	71084796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaagcaaggcaactcacCtgtccactagagaatacgaa	7	12	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71084796C>T	uc002jjb.2	-	2	223	c.108G>A	c.(106-108)CAG>CAA	p.Q36Q	SLC39A11_uc002jja.2_Silent_p.Q36Q|SLC39A11_uc002jjc.1_Silent_p.Q36Q	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	36					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						GGCAACTCACCTGTCCACTAG	0.567													T	71084796	C	T	71084796	2	4	275	1	0	0	0	0	0	0	0	1	14614	695	24	4		4	SLC39A11	17	71084796	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6010300	71084796	10110414	1137	142202											
SDK2	54549	broad.mit.edu	37	chr17	71391336	71391336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtctggctccagggccCgctcccgatggcgttgaagg	14	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71391336C>T	uc010dfm.2	-	25	3550	c.3550G>A	c.(3550-3552)GGG>AGG	p.G1184R	SDK2_uc002jjt.3_Missense_Mutation_p.G343R|SDK2_uc010dfn.2_Missense_Mutation_p.G863R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1184	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion	integral to membrane				ovary(2)	2						CTCCAGGGCCCGCTCCCGATG	0.667													T	71391336	C	T	71391336	3	4	275	1	0	0	0	0	1	0	0	0	13969	652	23	1	3052	1	SDK2	17	71391336	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	306540	71391336	9803874	1138	142203											
SDK2	54549	broad.mit.edu	37	chr17	71394282	71394282	+	Frame_Shift_Del	DEL	G	G	-													atctttctagaaggctgactGggggggctggtgcccacgat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71394281_71394281TG>T	uc010dfm.3	-	23	3247	c.3247_3247CA>A	c.(3247-3249)agtfs	p.S1083fs	SDK2_uc002jjt.4_Frame_Shift_Del_p.S242fs|SDK2_uc010dfn.2_Frame_Shift_Del_p.S762fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1083	Fibronectin type-III 5.				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						GAAGGCTGACTGGGGGGGCTG	0.622													-	71394282	G	-	71394282	7	5	275	1	0	1	0	1	0	0	0	0	13969	1335	47	0	3360	0	SDK2	17	71394282	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	2946	71394282	9800928	1139	142204											
SDK2	54549	broad.mit.edu	37	chr17	71394314	71394314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgatgttcacctggcGcatgcggaagctggggttgg	16	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:71394314G>A	uc010dfm.2	-	24	3214	c.3214C>T	c.(3214-3216)CGC>TGC	p.R1072C	SDK2_uc002jjt.3_Missense_Mutation_p.R231C|SDK2_uc010dfn.2_Missense_Mutation_p.R751C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1072	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						TTCACCTGGCGCATGCGGAAG	0.622													A	71394314	G	A	71394314	3	1	275	1	0	0	0	0	1	0	0	0	13969	1087	38	1	3392	1	SDK2	17	71394314	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	32	71394314	9800896	1140	142205											
MRPL38	64978	broad.mit.edu	37	chr17	73895602	73895602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgtagattaccagggTgaggggcgtgcgtcctcaga	18	7	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:73895602T>C	uc010wso.1	-	7	1089	c.864A>G	c.(862-864)TCA>TCG	p.S288S	FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	288						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTACCAGGGTGAGGGGCGTG	0.607													C	73895602	T	C	73895602	2	2	275	1	0	0	0	0	0	0	0	1	9801	1683	59	3		3	MRPL38	17	73895602	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2501288	73895602	7299608	1141	142206											
EVPL	2125	broad.mit.edu	37	chr17	74018100	74018100	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctctgcccgcgccacgAcgccgccttctgtgctcagg	12	18	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:74018100A>C	uc002jqi.2	-	7	883	c.655T>G	c.(655-657)TCG>GCG	p.S219A	EVPL_uc010wss.1_Missense_Mutation_p.S219A|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	219	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCGCGCCACGACGCCGCCTTC	0.706													C	74018100	A	C	74018100	3	2	275	1	0	0	0	0	1	0	0	0	5292	275	10	5	5510	5	EVPL	17	74018100	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	122498	74018100	7177110	1142	142207											
QRICH2	84074	broad.mit.edu	37	chr17	74277016	74277016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggcactctgcacacGgcccagcagctcctcgtcct	10	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:74277016G>A	uc002jrd.1	-	9	3964	c.3784C>T	c.(3784-3786)CGT>TGT	p.R1262C	QRICH2_uc010wsz.1_Missense_Mutation_p.R1188C|QRICH2_uc010dgw.1_Missense_Mutation_p.R106C	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1262							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						CTCTGCACACGGCCCAGCAGC	0.617													A	74277016	G	A	74277016	3	1	275	1	0	0	0	0	1	0	0	0	12880	1116	39	1	1251	1	QRICH2	17	74277016	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	258916	74277016	6918194	1143	142208											
UBE2O	63893	broad.mit.edu	37	chr17	74395734	74395734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctgcgtcctgctctgccGagtgcagcctgtcatctctg	10	15	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:74395734G>A	uc002jrm.3	-	9	1489	c.1424C>T	c.(1423-1425)TCG>TTG	p.S475L	UBE2O_uc002jrn.3_Missense_Mutation_p.S475L|UBE2O_uc002jrl.3_Missense_Mutation_p.S78L	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	475							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CTGCTCTGCCGAGTGCAGCCT	0.622													A	74395734	G	A	74395734	3	1	275	1	0	0	0	0	1	0	0	0	16865	1059	37	1	2494	1	UBE2O	17	74395734	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	118718	74395734	6799476	1144	142209											
TNRC6C	57690	broad.mit.edu	37	chr17	76046806	76046806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgccaagagtGgccatgcttggagtggggcc	16	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:76046806G>T	uc002jud.2	+	4	2263	c.1663G>T	c.(1663-1665)GGC>TGC	p.G555C	TNRC6C_uc002juf.2_Missense_Mutation_p.G555C|TNRC6C_uc002jue.2_Missense_Mutation_p.G555C	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	555	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAAGAGTGGCCATGCTTG	0.577													T	76046806	G	T	76046806	3	4	275	1	0	0	0	0	1	0	0	0	16339	1348	47	5	1665	5	TNRC6C	17	76046806	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1651072	76046806	5148404	1145	142210											
AFMID	125061	broad.mit.edu	37	chr17	76202066	76202066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagcctcatttgaagagCtccacgatgtggaccacttt	10	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:76202066C>T	uc002jva.3	+	10	835	c.820C>T	c.(820-822)CTC>TTC	p.L274F	AFMID_uc002jvb.3_Silent_p.S81S|AFMID_uc002juz.3_Missense_Mutation_p.L279F	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	arylformamidase isoform 1	274						cytosol|nucleus	arylformamidase activity			large_intestine(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			ATTTGAAGAGCTCCACGATGT	0.557													T	76202066	C	T	76202066	3	4	275	1	0	0	0	0	1	0	0	0	362	797	28	2	873	2	AFMID	17	76202066	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	155260	76202066	4993144	1146	142211											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043779	77043779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccttttcggtgggccGgaagaagcccatgcacagca	13	14	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:77043779G>A	uc002jwp.2	+	4	795	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	C1QTNF1_uc002jwq.2_Missense_Mutation_p.R70Q|C1QTNF1_uc002jwr.3_Missense_Mutation_p.R162Q|C1QTNF1_uc002jws.2_Missense_Mutation_p.R152Q|C1QTNF1_uc002jwt.2_Missense_Mutation_p.R250Q	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	152	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TCGGTGGGCCGGAAGAAGCCC	0.617													A	77043779	G	A	77043779	3	1	275	1	0	0	0	0	1	0	0	0	1962	1116	39	1	465	1	C1QTNF1	17	77043779	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	841713	77043779	4151431	1147	142212											
ENPP7	339221	broad.mit.edu	37	chr17	77709291	77709291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggactacggaccaaaCgggatgctgctccctaaaga	10	13	0	1	rs149462169	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:77709291C>T	uc002jxa.2	+	3	869	c.849C>T	c.(847-849)AAC>AAT	p.N283N		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	283					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGGACCAAACGGGATGCTGC	0.587													T	77709291	C	T	77709291	2	4	275	1	0	0	0	0	0	0	0	1	5135	535	19	1		1	ENPP7	17	77709291	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	665512	77709291	3485919	1148	142213											
CBX4	8535	broad.mit.edu	37	chr17	77807930	77807930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgctgccgccgccaccGccaccgccgccgacgccggt	13	22	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:77807930G>A	uc002jxe.2	-	5	1674	c.1511C>T	c.(1510-1512)GCG>GTG	p.A504V		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	504	Interaction with BMI1.|Poly-Ala.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			cgccgccaccgccaccgccgc	0.537													A	77807930	G	A	77807930	3	1	275	1	0	0	0	0	1	0	0	0	2720	1087	38	1	175	1	CBX4	17	77807930	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	98639	77807930	3387280	1149	142214											
RPTOR	57521	broad.mit.edu	37	chr17	78933961	78933961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtggctggcctcggtgaCggctccatccgcgtctacga	13	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr17:78933961C>T	uc002jyt.1	+	30	4366	c.3561C>T	c.(3559-3561)GAC>GAT	p.D1187D	RPTOR_uc010wug.1_Silent_p.D1029D|RPTOR_uc002jyu.1_Silent_p.D80D	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	1187	WD 4.				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			lung(4)|urinary_tract(1)|ovary(1)	6						GCCTCGGTGACGGCTCCATCC	0.612													T	78933961	C	T	78933961	2	4	275	1	0	0	0	0	0	0	0	1	13665	535	19	1		1	RPTOR	17	78933961	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1126031	78933961	2261249	1150	142215											
ENOSF1	55556	broad.mit.edu	37	chr18	674307	674307	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgttggggctgagcacttAattttcttgagcaggaagga	14	5	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:674307A>G	uc002kku.3	-	16	1405	c.1330T>C	c.(1330-1332)TAA>CAA	p.*444Q	ENOSF1_uc002kkt.3_Nonstop_Mutation_p.*362Q|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Nonstop_Mutation_p.*451Q|ENOSF1_uc002kkv.3_Nonstop_Mutation_p.*431Q|ENOSF1_uc002kkw.3_Nonstop_Mutation_p.*263Q|ENOSF1_uc002kkx.3_Nonstop_Mutation_p.*368Q	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	444					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						CTGAGCACTTAATTTTCTTGA	0.378													G	674307	A	G	674307	4	3	275	1	0	0	0	0	0	0	0	0	5125	375	13	3	5	3	ENOSF1	18	674307	Nonstop_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08		674307	77402941	1151	142216											
EPB41L3	23136	broad.mit.edu	37	chr18	5397388	5397388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcacggtgggttccGtctctattccactggactcc	13	12	1	0	rs143141379		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:5397388G>A	uc002kmt.1	-	18	2596	c.2510C>T	c.(2509-2511)ACG>ATG	p.T837M	EPB41L3_uc010wzh.1_Missense_Mutation_p.T668M|EPB41L3_uc002kmu.1_Missense_Mutation_p.T615M|EPB41L3_uc010dkq.1_Missense_Mutation_p.T506M|EPB41L3_uc002kms.1_Missense_Mutation_p.T72M|EPB41L3_uc010wze.1_Missense_Mutation_p.T142M|EPB41L3_uc010wzf.1_Missense_Mutation_p.T134M|EPB41L3_uc010wzg.1_Missense_Mutation_p.T109M|EPB41L3_uc010dkr.2_Missense_Mutation_p.T229M	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	837	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGTGGGTTCCGTCTCTATTCC	0.542													A	5397388	G	A	5397388	3	1	275	1	0	0	0	0	1	0	0	0	5154	1145	40	1	773	1	EPB41L3	18	5397388	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4723081	5397388	72679860	1152	142217											
TMEM200C	645369	broad.mit.edu	37	chr18	5891698	5891698	+	Frame_Shift_Del	DEL	C	C	-													ccgcggaactggagttgacaCcccctggagccctagggtgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:5891697_5891697AC>A	uc002kmx.1	-	0	407	c.366_366GT>T	c.(364-366)ggtfs	p.G122fs		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	122						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGGAGTTGACACCCCCTGGAG	0.687													-	5891698	C	-	5891698	7	5	275	1	0	1	0	1	0	0	0	0	16122	507	18	0	1504	0	TMEM200C	18	5891698	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	494310	5891698	72185550	1153	142218											
KIAA0802	23255	broad.mit.edu	37	chr18	8784560	8784560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctccatgatgcggggCtgcggggtggtgcgccctta	16	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:8784560C>A	uc002knr.2	+	6	1592	c.1450C>A	c.(1450-1452)CTG>ATG	p.L484M	KIAA0802_uc002knq.2_Missense_Mutation_p.L484M|KIAA0802_uc010dkw.1_Missense_Mutation_p.L322M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	835											0						TGATGCGGGGCTGCGGGGTGG	0.672													A	8784560	C	A	8784560	3	1	275	1	0	0	0	0	1	0	0	0	8194	796	28	5	1464	5	KIAA0802	18	8784560	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2892862	8784560	69292688	1154	142219											
SNRPD1	6632	broad.mit.edu	37	chr18	19203788	19203788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacctgtacagctggaaacGctgagtattcgaggaaataa	11	7	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:19203788G>A	uc002ktj.1	+	3	302	c.171G>A	c.(169-171)ACG>ACA	p.T57T		NM_006938	NP_008869	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide	57					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding				0						AGCTGGAAACGCTGAGTATTC	0.388													A	19203788	G	A	19203788	2	1	275	1	0	0	0	0	0	0	0	1	14864	1074	38	1		1	SNRPD1	18	19203788	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	10419228	19203788	58873460	1155	142220											
CTAGE1	64693	broad.mit.edu	37	chr18	19995706	19995706	+	Frame_Shift_Del	DEL	G	G	-													acacggttcctggaggaggtGgggggaaaggaggtcctctt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:19995705_19995705TG>T	uc002ktv.1	-	0	2174	c.2070_2070CA>A	c.(2068-2070)ccafs	p.P690fs		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	690	Pro-rich.					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)					CTGGAGGAGGTGGGGGGAAAG	0.498													-	19995706	G	-	19995706	7	5	275	1	0	1	0	1	0	0	0	0	3992	1348	47	0	172	0	CTAGE1	18	19995706	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	791918	19995706	58081542	1156	142221											
OSBPL1A	114876	broad.mit.edu	37	chr18	21759789	21759789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagatacagcaaacGcagctacacactgtgggaca	9	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:21759789G>A	uc002kve.2	-	20	1997	c.1823C>T	c.(1822-1824)GCG>GTG	p.A608V	OSBPL1A_uc002kvd.2_Missense_Mutation_p.A95V|OSBPL1A_uc010xbc.1_Missense_Mutation_p.A226V	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	608					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	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)					TACAGCAAACGCAGCTACACA	0.463													A	21759789	G	A	21759789	3	1	275	1	0	0	0	0	1	0	0	0	11277	1087	38	1	1065	1	OSBPL1A	18	21759789	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1764083	21759789	56317459	1157	142222											
DSC1	1823	broad.mit.edu	37	chr18	28710616	28710616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgccttcatagttatacGaacaaacgtagtcttcacaa	5	10	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:28710616G>A	uc002kwn.2	-	16	2808	c.2546C>T	c.(2545-2547)TCG>TTG	p.S849L	DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	849	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATAGTTATACGAACAAACGTA	0.418													A	28710616	G	A	28710616	3	1	275	1	0	0	0	0	1	0	0	0	4765	1059	37	1	142	1	DSC1	18	28710616	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6950827	28710616	49366632	1158	142223											
NOL4	8715	broad.mit.edu	37	chr18	31803157	31803157	+	Frame_Shift_Del	DEL	C	C	-													cgtcttggtcttgcctgagtCcccgtaagtcctgaggcacc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:31803156_31803156TC>T	uc010dmi.3	-	0	360	c.62_62GA>A	c.(61-63)gacfs	p.D21fs	NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Frame_Shift_Del_p.D21fs|NOL4_uc002kxt.4_Frame_Shift_Del_p.D21fs	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	21						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						CTTGCCTGAGTCCCCGTAAGT	0.602													-	31803157	C	-	31803157	7	5	275	1	0	1	0	1	0	0	0	0	10524	855	30	0	1899	0	NOL4	18	31803157	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	3092541	31803157	46274091	1159	142224											
SYT4	6860	broad.mit.edu	37	chr18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-													gctggtggtgatcggagccaTtttttactgcgtgttctgtc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:40857245_40857245AT>A	uc002law.3	-	0	371	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Frame_Shift_Del_p.M1fs	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	1						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						GATCGGAGCCATTTTTTACTG	0.493													-	40857246	T	-	40857246	7	5	275	1	0	1	0	1	0	0	0	0	15473	1493	52	0	1292	0	SYT4	18	40857246	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	9054089	40857246	37220002	1160	142225											
ZBTB7C	201501	broad.mit.edu	37	chr18	45555955	45555955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtggccgcccacctcGcccagcgcagggggcatcac	13	19	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:45555955G>A	uc002lda.2	-	2	1552	c.1536C>T	c.(1534-1536)GGC>GGT	p.G512G	ZBTB7C_uc002ldb.2_Silent_p.G512G|ZBTB7C_uc010dnu.2_Silent_p.G521G|ZBTB7C_uc010dnv.2_Silent_p.G534G|ZBTB7C_uc010dnw.2_Silent_p.G512G	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	512						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CGCCCACCTCGCCCAGCGCAG	0.662													A	45555955	G	A	45555955	2	1	275	1	0	0	0	0	0	0	0	1	17552	1074	38	1		1	ZBTB7C	18	45555955	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	4698709	45555955	32521293	1161	142226											
DCC	1630	broad.mit.edu	37	chr18	50976892	50976892	+	Frame_Shift_Del	DEL	C	C	-													ccgccaattggacaaatgcaCcccccgcatggcagtgtcac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:50976891_50976891AC>A	uc002lfe.2	+	22	3867	c.3251_3251AC>A	c.(3250-3252)cacfs	p.H1084fs	DCC_uc010dpf.2_Frame_Shift_Del_p.H719fs	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1084					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)		GGACAAATGCACCCCCCGCAT	0.493													-	50976892	C	-	50976892	7	5	275	1	0	1	0	1	0	0	0	0	4282	506	18	0	3342	0	DCC	18	50976892	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	5420937	50976892	27100356	1162	142227											
WDR7	23335	broad.mit.edu	37	chr18	54591218	54591218	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccacacagcactatcCgaagaacagccattgatctg	6	14	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:54591218C>T	uc002lgk.1	+	22	3803	c.3592C>T	c.(3592-3594)CGA>TGA	p.R1198*	WDR7_uc002lgl.1_Nonsense_Mutation_p.R1165*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1198										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CAGCACTATCCGAAGAACAGC	0.493													T	54591218	C	T	54591218	4	4	275	1	0	0	0	0	0	1	0	0	17317	644	23	1	3674	1	WDR7	18	54591218	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3614326	54591218	23486030	1163	142228											
ATP8B1	5205	broad.mit.edu	37	chr18	55315862	55315862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggcgtaggccgagcgcCgcgttgacacgccccggcgg	17	14	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:55315862C>T	uc002lgw.2	-	27	3614	c.3614G>A	c.(3613-3615)CGG>CAG	p.R1205Q	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1205	Cytoplasmic (Potential).				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	p.R1205R(1)		breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GGCCGAGCGCCGCGTTGACAC	0.672									Byler_disease				T	55315862	C	T	55315862	3	4	275	1	0	0	0	0	1	0	0	0	1194	652	23	1	145	1	ATP8B1	18	55315862	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	724644	55315862	22761386	1164	142229											
NEDD4L	23327	broad.mit.edu	37	chr18	55996250	55996250	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcctcggagtcggacaAtaacatcagacagatcaacc	9	12	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:55996250A>T	uc002lgy.2	+	10	978	c.704A>T	c.(703-705)AAT>ATT	p.N235I	NEDD4L_uc002lgz.2_Missense_Mutation_p.N235I|NEDD4L_uc002lgx.2_Missense_Mutation_p.N235I|NEDD4L_uc010xee.1_Missense_Mutation_p.N114I|NEDD4L_uc002lhc.2_Missense_Mutation_p.N227I|NEDD4L_uc002lhd.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhb.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhe.2_Missense_Mutation_p.N227I|NEDD4L_uc002lhf.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhg.2_Missense_Mutation_p.N114I|NEDD4L_uc002lhh.2_Missense_Mutation_p.N114I|NEDD4L_uc010dpm.1_Missense_Mutation_p.N86I	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	235					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			lung(4)	4						GAGTCGGACAATAACATCAGA	0.587													T	55996250	A	T	55996250	3	4	275	1	0	0	0	0	1	0	0	0	10311	101	4	5	770	5	NEDD4L	18	55996250	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	680388	55996250	22080998	1165	142230											
ALPK2	115701	broad.mit.edu	37	chr18	56171214	56171214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttctggtacacccagtGctggaaggtgcaacatttct	10	9	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:56171214G>A	uc002lhj.3	-	11	6410	c.6196C>T	c.(6196-6198)CAC>TAC	p.H2066Y		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2066	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TACACCCAGTGCTGGAAGGTG	0.498													A	56171214	G	A	56171214	3	1	275	1	0	0	0	0	1	0	0	0	545	1319	46	2	328	2	ALPK2	18	56171214	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	174964	56171214	21906034	1166	142231											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-													tttctttatctggtgtgggcTtttttttggagttttggaat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGG	0.294													-	57013285	T	-	57013285	8	5	275	1	0	1	0	1	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	842071	57013285	21063963	1167	142232											
CDH20	28316	broad.mit.edu	37	chr18	59221536	59221536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgacgacgagggcggcggcGaggaggacaccgaggccttc	18	12	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:59221536G>A	uc010dps.1	+	11	2026	c.2014G>A	c.(2014-2016)GAG>AAG	p.E672K	CDH20_uc002lif.2_Missense_Mutation_p.E666K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	672	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				GGGCGGCGGCGAGGAGGACAC	0.647													A	59221536	G	A	59221536	3	1	275	1	0	0	0	0	1	0	0	0	3106	1059	37	1	2056	1	CDH20	18	59221536	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2208251	59221536	18855712	1168	142233											
CCDC102B	79839	broad.mit.edu	37	chr18	66504103	66504103	+	Frame_Shift_Del	DEL	C	C	-													acatggtggcacctgcctcaCcccccagggatacctgtaat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:66504102_66504102AC>A	uc002lkk.2	+	3	325	c.102_102AC>A	c.(100-102)tcafs	p.S34fs	CCDC102B_uc002lki.2_Frame_Shift_Del_p.S34fs|CCDC102B_uc002lkj.1_Frame_Shift_Del_p.S34fs	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	34										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)				CACCTGCCTCACCCCCCAGGG	0.453													-	66504103	C	-	66504103	7	5	275	1	0	1	0	1	0	0	0	0	2737	507	18	0	105	0	CCDC102B	18	66504103	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	7282567	66504103	11573145	1169	142234											
DOK6	220164	broad.mit.edu	37	chr18	67508532	67508532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagacatttcccagctaCgccccagaacagagtgaaga	9	13	0	5			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:67508532C>T	uc002lkl.2	+	8	1099	c.909C>T	c.(907-909)TAC>TAT	p.Y303Y		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	303							insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTCCCAGCTACGCCCCAGAAC	0.527													T	67508532	C	T	67508532	2	4	275	1	0	0	0	0	0	0	0	1	4701	547	19	1		1	DOK6	18	67508532	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1004429	67508532	10568716	1170	142235											
CYB5A	1528	broad.mit.edu	37	chr18	71959089	71959089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggtgtagtacttcacggCctcgtccgactgctctgcca	11	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:71959089C>T	uc002lli.2	-	1	133	c.22G>A	c.(22-24)GCC>ACC	p.A8T	CYB5A_uc002llh.2_Missense_Mutation_p.A8T	NM_148923	NP_683725	P00167	CYB5_HUMAN	cytochrome b-5 isoform 1	8					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding				0		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	TACTTCACGGCCTCGTCCGAC	0.602											OREG0025052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	71959089	C	T	71959089	3	4	275	1	0	0	0	0	1	0	0	0	4122	739	26	2	415	2	CYB5A	18	71959089	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4450557	71959089	6118159	1171	142236											
CNDP2	55748	broad.mit.edu	37	chr18	72168668	72168668	+	Frame_Shift_Del	DEL	G	G	-													gctgcagatgttaagcagttGgggggctctgtggaactggt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:72168667_72168667TG>T	uc002llm.2	+	2	423	c.164_164TG>T	c.(163-165)ttgfs	p.L55fs	CNDP2_uc021ulm.1_Non-coding_Transcript|CNDP2_uc002lln.2_Frame_Shift_Del_p.L55fs	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	55						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)		GTTAAGCAGTTGGGGGGCTCT	0.522													-	72168668	G	-	72168668	7	5	275	1	0	1	0	1	0	0	0	0	3594	1339	47	0	171	0	CNDP2	18	72168668	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	209579	72168668	5908580	1172	142237											
TSHZ1	10194	broad.mit.edu	37	chr18	72997590	72997590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggacgccggctacgggtcGcccttcagtgagagcagcga	15	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:72997590G>A	uc002lly.2	+	2	656	c.93G>A	c.(91-93)TCG>TCA	p.S31S		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	76	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GCTACGGGTCGCCCTTCAGTG	0.582													A	72997590	G	A	72997590	2	1	275	1	0	0	0	0	0	0	0	1	16620	1074	38	1		1	TSHZ1	18	72997590	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	828922	72997590	5079658	1173	142238											
SALL3	27164	broad.mit.edu	37	chr18	76753554	76753554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagcccgtgctgcccacCgtgcccacgtccgtggggct	13	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:76753554C>T	uc002lmt.2	+	2	1563	c.1563C>T	c.(1561-1563)ACC>ACT	p.T521T	SALL3_uc010dra.2_Silent_p.T128T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		TGCTGCCCACCGTGCCCACGT	0.721													T	76753554	C	T	76753554	2	4	275	1	0	0	0	0	0	0	0	1	13812	639	23	1		1	SALL3	18	76753554	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3755964	76753554	1323694	1174	142239											
NFATC1	4772	broad.mit.edu	37	chr18	77193582	77193582	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctgttcccttccagcccGaccctgcccgccctggactg	9	20	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:77193582G>A	uc010xfg.1	+	3	1683	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	NFATC1_uc002lnc.1_Silent_p.P410P|NFATC1_uc010xff.1_Silent_p.P410P|NFATC1_uc002lnd.2_Silent_p.P410P|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Silent_p.P410P|NFATC1_uc010xfi.1_Silent_p.P397P|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Silent_p.P397P|NFATC1_uc002lng.2_Silent_p.P397P|NFATC1_uc010xfk.1_Silent_p.P397P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	410	RHD.				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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTTCCAGCCCGACCCTGCCCG	0.667													A	77193582	G	A	77193582	2	1	275	1	0	0	0	0	0	0	0	1	10361	1045	37	1		1	NFATC1	18	77193582	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	440028	77193582	883666	1175	142240											
ADNP2	22850	broad.mit.edu	37	chr18	77896564	77896565	+	Frame_Shift_Ins	INS	-	-	T													gaaaattgatgtggcttcatINStttttggaaaaagaaggtat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr18:77896563_77896564A>AT	uc002lnw.3	+	3	3722_3723	c.3267_3268A>AT	c.(3265-3270)tcatttfs	p.S1089fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1089					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATGTGGCTTCATTTTTTGGAAA	0.307													T	77896565	-	T	77896564	7	5	275	1	0	1	1	0	0	0	0	0	324	1493	52	0	3278	0	ADNP2	18	77896564	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	702982	77896564	180684	1176	142241											
POLRMT	5442	broad.mit.edu	37	chr19	621151	621151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccgcttcttcaacccCgtgagattgaccaggtggat	11	13	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:621151C>T	uc002lpf.1	-	10	2603	c.2547G>A	c.(2545-2547)ACG>ACA	p.T849T		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	849	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		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)		TCTTCAACCCCGTGAGATTGA	0.682													T	621151	C	T	621151	2	4	275	1	0	0	0	0	0	0	0	1	12238	639	23	1		1	POLRMT	19	621151	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08		621151	58507832	1177	142242											
ELANE	1991	broad.mit.edu	37	chr19	855593	855593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggccaccatcaacgccaaCgtgcaggtggcccagctgcc	11	17	1	0	rs144441259	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:855593C>T	uc002lqb.2	+	4	434	c.396C>T	c.(394-396)AAC>AAT	p.N132N		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	132	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCAACGCCAACGTGCAGGTGG	0.697									Kostmann_syndrome				T	855593	C	T	855593	2	4	275	1	0	0	0	0	0	0	0	1	5048	535	19	1		1	ELANE	19	855593	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	234442	855593	58273390	1178	142243											
HMHA1	23526	broad.mit.edu	37	chr19	1073980	1073980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatggaccgggcagtgagGgcacgcctcccagcctggaa	15	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1073980G>T	uc002lqz.1	+	6	988	c.757G>T	c.(757-759)GGC>TGC	p.G253C	HMHA1_uc010xgd.1_Missense_Mutation_p.G269C|HMHA1_uc010xge.1_Missense_Mutation_p.G93C|HMHA1_uc002lra.1_Missense_Mutation_p.G93C|HMHA1_uc002lrb.1_Missense_Mutation_p.G136C	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	253					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		GGGCAGTGAGGGCACGCCTCC	0.687													T	1073980	G	T	1073980	3	4	275	1	0	0	0	0	1	0	0	0	7240	1232	43	5	779	5	HMHA1	19	1073980	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	218387	1073980	58055003	1179	142244											
APC2	10297	broad.mit.edu	37	chr19	1466991	1466991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggccacccagttcagcCtgcagtgggagagctacgtg	14	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1466991C>A	uc002lsr.1	+	15	3899	c.3691C>A	c.(3691-3693)CTG>ATG	p.L1231M	APC2_uc002lss.1_Missense_Mutation_p.L813M|APC2_uc002lst.1_Missense_Mutation_p.L1231M|APC2_uc002lsu.1_Missense_Mutation_p.L1230M|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1231	Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.				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)|pancreas(1)	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)		CCAGTTCAGCCTGCAGTGGGA	0.706													A	1466991	C	A	1466991	3	1	275	1	0	0	0	0	1	0	0	0	764	680	24	5	3745	5	APC2	19	1466991	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	393011	1466991	57661992	1180	142245											
PCSK4	54760	broad.mit.edu	37	chr19	1483747	1483747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccggcgtccagcagcccGtatccgtagtgatggctcac	12	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1483747G>A	uc002ltb.1	-	11	1355	c.1293C>T	c.(1291-1293)TAC>TAT	p.Y431Y	PCSK4_uc002lsz.2_Translation_Start_Site|PCSK4_uc002lta.2_Silent_p.Y243Y	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	431					proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)		CCAGCAGCCCGTATCCGTAGT	0.557													A	1483747	G	A	1483747	2	1	275	1	0	0	0	0	0	0	0	1	11602	1140	40	1		1	PCSK4	19	1483747	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	16756	1483747	57645236	1181	142246											
MEX3D	399664	broad.mit.edu	37	chr19	1556587	1556587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggctccttgtcgcgccCgggcgtcacgatgtaggtgt	14	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1556587C>T	uc010dsn.2	-	2	931	c.931G>A	c.(931-933)GGG>AGG	p.G311R		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	311	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			lung(1)	1		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)		TTGTCGCGCCCGGGCGTCACG	0.711													T	1556587	C	T	1556587	3	4	275	1	0	0	0	0	1	0	0	0	9512	652	23	1	1091	1	MEX3D	19	1556587	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	72840	1556587	57572396	1182	142247											
BTBD2	55643	broad.mit.edu	37	chr19	1993114	1993114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcaccgcgtacttcttggCggtgtatagcgtggtcatca	13	10	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:1993114C>A	uc002lup.1	-	3	589	c.589G>T	c.(589-591)GCC>TCC	p.A197S	BTBD2_uc002luo.1_5'Flank	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	197						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		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)		TACTTCTTGGCGGTGTATAGC	0.627													A	1993114	C	A	1993114	3	1	275	1	0	0	0	0	1	0	0	0	1543	768	27	5	1016	5	BTBD2	19	1993114	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	436527	1993114	57135869	1183	142248											
ZNF554	115196	broad.mit.edu	37	chr19	2833974	2833974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaccacttgtgtggcagCgagttagatattacaagctt	12	7	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:2833974C>T	uc002lwm.2	+	5	939	c.741C>T	c.(739-741)AGC>AGT	p.S247S	ZNF554_uc002lwl.2_Silent_p.S196S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TGTGTGGCAGCGAGTTAGATA	0.458													T	2833974	C	T	2833974	2	4	275	1	0	0	0	0	0	0	0	1	17982	767	27	1		1	ZNF554	19	2833974	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	840860	2833974	56295009	1184	142249											
ZNF77	58492	broad.mit.edu	37	chr19	2934023	2934023	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcattctcatgtgtgctcGcagagaggaggggtacctga	15	8	1	2	rs61740279	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:2934023G>A	uc002lws.3	-	4	1233	c.1102C>T	c.(1102-1104)CGA>TGA	p.R368*		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	368	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGTGCTCGCAGAGAGGAG	0.502													A	2934023	G	A	2934023	4	1	275	1	0	0	0	0	0	1	0	0	18139	1095	38	1	539	1	ZNF77	19	2934023	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	100049	2934023	56194960	1185	142250											
TLE2	7089	broad.mit.edu	37	chr19	3006610	3006610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgcctaccagtgcatcCgaggggaagggaaccggctg	15	14	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:3006610C>T	uc002lww.2	-	15	1571	c.1308G>A	c.(1306-1308)TCG>TCA	p.S436S	TLE2_uc010xhb.1_Silent_p.S103S|TLE2_uc010dth.2_Silent_p.S437S|TLE2_uc010xhc.1_Silent_p.S314S|TLE2_uc010dti.2_Silent_p.S450S|TLE2_uc010xhd.1_Silent_p.S344S	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	436					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		CCAGTGCATCCGAGGGGAAGG	0.701													T	3006610	C	T	3006610	2	4	275	1	0	0	0	0	0	0	0	1	15936	639	23	1		1	TLE2	19	3006610	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	72587	3006610	56122373	1186	142251											
FZR1	51343	broad.mit.edu	37	chr19	3527008	3527008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccaagcgctccagccccGatgacggcaacgatgtgtct	11	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:3527008G>A	uc010dtk.2	+	5	452	c.418G>A	c.(418-420)GAT>AAT	p.D140N	FZR1_uc002lxt.2_Missense_Mutation_p.D140N|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	140					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			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCCCCGATGACGGCAA	0.662													A	3527008	G	A	3527008	3	1	275	1	0	0	0	0	1	0	0	0	6138	1058	37	1	436	1	FZR1	19	3527008	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	520398	3527008	55601975	1187	142252											
CHAF1A	10036	broad.mit.edu	37	chr19	4433532	4433532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagcgcaggcacgacgGccaggtgaggtggggtgggc	21	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:4433532G>A	uc002mal.2	+	13	2769	c.2669G>A	c.(2668-2670)GGC>GAC	p.G890D		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	890	Binds to p60.				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			ovary(1)|skin(1)	2		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)		AGGCACGACGGCCAGGTGAGG	0.483								Chromatin_Structure					A	4433532	G	A	4433532	3	1	275	1	0	0	0	0	1	0	0	0	3311	1203	42	2	2719	2	CHAF1A	19	4433532	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	906524	4433532	54695451	1188	142253											
DPP9	91039	broad.mit.edu	37	chr19	4682823	4682823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcgtaggccatccagaCggtgaccggggcacccgcga	15	13	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:4682823C>T	uc002mba.2	-	20	2617	c.2359G>A	c.(2359-2361)GTC>ATC	p.V787I		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	758					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCATCCAGACGGTGACCGGG	0.627													T	4682823	C	T	4682823	3	4	275	1	0	0	0	0	1	0	0	0	4733	536	19	1	331	1	DPP9	19	4682823	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	249291	4682823	54446160	1189	142254											
PTPRS	5802	broad.mit.edu	37	chr19	5258089	5258089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgttggtggccacacaCtcatatttgccctggtcggt	12	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:5258089C>T	uc002mbv.2	-	8	879	c.645G>A	c.(643-645)GAG>GAA	p.E215E	PTPRS_uc002mbu.1_Silent_p.E206E|PTPRS_uc010xin.1_Silent_p.E206E|PTPRS_uc002mbw.2_Silent_p.E206E|PTPRS_uc002mbx.2_Silent_p.E206E|PTPRS_uc002mby.2_Silent_p.E206E	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	215	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGGCCACACACTCATATTTGC	0.607													T	5258089	C	T	5258089	2	4	275	1	0	0	0	0	0	0	0	1	12811	564	20	4		4	PTPRS	19	5258089	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	575266	5258089	53870894	1190	142255											
ACSBG2	81616	broad.mit.edu	37	chr19	6187702	6187702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcagccaggcatccacCgtgactgagattgtgaagca	13	11	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:6187702C>T	uc002mef.1	+	13	2000	c.1773C>T	c.(1771-1773)ACC>ACT	p.T591T	ACSBG2_uc002mee.1_Silent_p.T404T|ACSBG2_uc002meg.1_Silent_p.T591T|ACSBG2_uc002meh.1_Silent_p.T591T|ACSBG2_uc002mei.1_Silent_p.T541T|ACSBG2_uc010xiz.1_Silent_p.T563T	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	591					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			ovary(1)	1						AGGCATCCACCGTGACTGAGA	0.552													T	6187702	C	T	6187702	2	4	275	1	0	0	0	0	0	0	0	1	174	639	23	1		1	ACSBG2	19	6187702	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	929613	6187702	52941281	1191	142256											
C3	718	broad.mit.edu	37	chr19	6711033	6711033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatcttggcctcgtgggCgcggtccattcgcaggagga	17	11	1	0	rs149692538		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:6711033C>T	uc002mfm.2	-	12	1506	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	482					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCTCGTGGGCGCGGTCCATT	0.607													T	6711033	C	T	6711033	3	4	275	1	0	0	0	0	1	0	0	0	2204	768	27	1	3667	1	C3	19	6711033	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	523331	6711033	52417950	1192	142257											
XAB2	56949	broad.mit.edu	37	chr19	7685556	7685556	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgctcgtccgacagcacCtggacaccggggttggggag	17	12	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:7685556C>A	uc002mgx.2	-	15	1998	c.1972_splice	c.e15-1	p.V658_splice		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2						transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						CCGACAGCACCTGGACACCGG	0.657								Direct_reversal_of_damage|NER					A	7685556	C	A	7685556	5	1	275	1	0	0	0	0	0	0	1	0	17415	695	24	5	616	5	XAB2	19	7685556	Splice_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	974523	7685556	51443427	1193	142258											
LRRC8E	80131	broad.mit.edu	37	chr19	7964581	7964581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgaggtcagcgaaagcCgtctaaagcagctcaatctc	10	12	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:7964581C>T	uc002mir.2	+	3	1275	c.1174C>T	c.(1174-1176)CGT>TGT	p.R392C		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	392						integral to membrane				lung(1)|pancreas(1)	2						CAGCGAAAGCCGTCTAAAGCA	0.592													T	7964581	C	T	7964581	3	4	275	1	0	0	0	0	1	0	0	0	9025	652	23	1	1180	1	LRRC8E	19	7964581	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	279025	7964581	51164402	1194	142259											
ELAVL1	1994	broad.mit.edu	37	chr19	8028414	8028414	+	Frame_Shift_Del	DEL	C	C	-													ggaaacctgtaagattttgtCccccaggcggtagccgttca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8028413_8028413TC>T	uc002mjb.3	-	5	1102	c.935_935GA>A	c.(934-936)gacfs	p.D312fs		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	312	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						TAAGATTTTGTCCCCCAGGCG	0.443													-	8028414	C	-	8028414	7	5	275	1	0	1	0	1	0	0	0	0	5049	855	30	0	50	0	ELAVL1	19	8028414	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	63833	8028414	51100569	1195	142260											
FBN3	84467	broad.mit.edu	37	chr19	8201150	8201150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgccggggatgttgacGcagtcaccgtggtggcaggg	19	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8201150G>A	uc002mjf.2	-	11	1410	c.1389C>T	c.(1387-1389)TGC>TGT	p.C463C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	463	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGATGTTGACGCAGTCACCGT	0.662													A	8201150	G	A	8201150	2	1	275	1	0	0	0	0	0	0	0	1	5704	1079	38	1		1	FBN3	19	8201150	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	172736	8201150	50927833	1196	142261											
MARCH2	51257	broad.mit.edu	37	chr19	8491553	8491553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagtgcttgctgtccccGtgtggctgcaccggcacgct	16	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8491553G>A	uc002mjv.2	+	4	678	c.237G>A	c.(235-237)CCG>CCA	p.P79P	MARCH2_uc002mjw.2_Silent_p.P79P|MARCH2_uc002mjx.2_Silent_p.P79P	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2	79	RING-CH-type.				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TGCTGTCCCCGTGTGGCTGCA	0.582													A	8491553	G	A	8491553	2	1	275	1	0	0	0	0	0	0	0	1	9301	1132	40	1		1	MARCH2	19	8491553	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	290403	8491553	50637430	1197	142262											
HNRNPM	4670	broad.mit.edu	37	chr19	8550766	8550766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggctctggcgtggagcGcatgggtgccggcatgggct	18	10	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8550766G>A	uc010dwe.2	+	14	1534	c.1454G>A	c.(1453-1455)CGC>CAC	p.R485H	HNRNPM_uc010xke.1_Missense_Mutation_p.R431H|HNRNPM_uc010dwd.2_Missense_Mutation_p.R446H|HNRNPM_uc002mka.2_Missense_Mutation_p.R350H|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	485	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|12.				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				0						GGCGTGGAGCGCATGGGTGCC	0.677													A	8550766	G	A	8550766	3	1	275	1	0	0	0	0	1	0	0	0	7271	1087	38	1	1508	1	HNRNPM	19	8550766	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	59213	8550766	50578217	1198	142263											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670161	8670161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctccggggaggaggtggCgagaaggccagcagtgcccc	18	12	0	1	rs150237441	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8670161C>T	uc002mkj.1	-	4	445	c.171G>A	c.(169-171)TCG>TCA	p.S57S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GAGGAGGTGGCGAGAAGGCCA	0.662													T	8670161	C	T	8670161	2	4	275	1	0	0	0	0	0	0	0	1	256	755	27	1		1	ADAMTS10	19	8670161	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	119395	8670161	50458822	1199	142264											
MUC16	94025	broad.mit.edu	37	chr19	8997482	8997482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcatgttctcctcatacCgcaggttggtgatggtgaag	13	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:8997482C>T	uc002mkp.2	-	59	41144	c.40940G>A	c.(40939-40941)CGG>CAG	p.R13647Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R464Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCCTCATACCGCAGGTTGGT	0.557													T	8997482	C	T	8997482	3	4	275	1	0	0	0	0	1	0	0	0	9973	652	23	1	2687	1	MUC16	19	8997482	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	327321	8997482	50131501	1200	142265											
OR7G1	125962	broad.mit.edu	37	chr19	9225634	9225634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaagccacagcagtaattCgggaagactcagcaacagca	10	11	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:9225634C>T	uc002mks.1	-	1	806	c.806G>A	c.(805-807)CGA>CAA	p.R269Q		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						AGCAGTAATTCGGGAAGACTC	0.458													T	9225634	C	T	9225634	3	4	275	1	0	0	0	0	1	0	0	0	11222	884	31	1	203	1	OR7G1	19	9225634	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	228152	9225634	49903349	1201	142266											
ZNF560	147741	broad.mit.edu	37	chr19	9578489	9578489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggttttgccacagtgcttAcatttataaggttttatccc	7	8	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:9578489A>G	uc002mlp.1	-	10	1344	c.1134T>C	c.(1132-1134)TGT>TGC	p.C378C	ZNF560_uc010dwr.1_Silent_p.C272C	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	378	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						CACAGTGCTTACATTTATAAG	0.413													G	9578489	A	G	9578489	2	3	275	1	0	0	0	0	0	0	0	1	17988	389	14	3		3	ZNF560	19	9578489	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	352855	9578489	49550494	1202	142267											
COL5A3	50509	broad.mit.edu	37	chr19	10097273	10097273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttgaagcctgggaagcCgtcctctccctgggtgggag	15	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:10097273C>T	uc002mmq.1	-	29	2286	c.2200G>A	c.(2200-2202)GGC>AGC	p.G734S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	734	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCTGGGAAGCCGTCCTCTCCC	0.617													T	10097273	C	T	10097273	3	4	275	1	0	0	0	0	1	0	0	0	3698	652	23	1	3193	1	COL5A3	19	10097273	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	518784	10097273	49031710	1203	142268											
COL5A3	50509	broad.mit.edu	37	chr19	10100194	10100194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcctgggtttccagggGgaccctgaaagaagatgaac	13	8	0	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:10100194G>A	uc002mmq.1	-	25	2083	c.1997C>T	c.(1996-1998)CCC>CTC	p.P666L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	666	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GTTTCCAGGGGGACCCTGAAA	0.577													A	10100194	G	A	10100194	3	1	275	1	0	0	0	0	1	0	0	0	3698	1232	43	4	3412	4	COL5A3	19	10100194	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2921	10100194	49028789	1204	142269											
KRI1	65095	broad.mit.edu	37	chr19	10668280	10668280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtgcggtacttgaagCgacagggcaggtcgtcgatg	15	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:10668280C>T	uc002moy.1	-	16	1592	c.1583G>A	c.(1582-1584)CGC>CAC	p.R528H	KRI1_uc002mow.1_Missense_Mutation_p.R147H|KRI1_uc002mox.1_Missense_Mutation_p.R524H	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	528										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTACTTGAAGCGACAGGGCAG	0.617													T	10668280	C	T	10668280	3	4	275	1	0	0	0	0	1	0	0	0	8444	768	27	1	562	1	KRI1	19	10668280	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	568086	10668280	48460703	1205	142270											
CARM1	10498	broad.mit.edu	37	chr19	11024578	11024578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagagtaacaacctgaCggaccgcatcgtggtcatcc	12	11	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11024578C>T	uc002mpz.2	+	6	821	c.695C>T	c.(694-696)ACG>ATG	p.T232M	CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.T15M	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	232					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				0						AACAACCTGACGGACCGCATC	0.617													T	11024578	C	T	11024578	3	4	275	1	0	0	0	0	1	0	0	0	2655	536	19	1	717	1	CARM1	19	11024578	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	356298	11024578	48104405	1206	142271											
SMARCA4	6597	broad.mit.edu	37	chr19	11135020	11135020	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtggagtacgtcaTcaagtgcgacatgtctgcgc	13	11	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11135020T>G	uc002mqf.3	+	21	3271	c.2987T>G	c.(2986-2988)ATC>AGC	p.I996S	SMARCA4_uc010dxp.2_Missense_Mutation_p.I996S|SMARCA4_uc010dxo.2_Missense_Mutation_p.I996S|SMARCA4_uc002mqg.1_Missense_Mutation_p.I996S|SMARCA4_uc010dxq.2_Missense_Mutation_p.I996S|SMARCA4_uc010dxr.2_Missense_Mutation_p.I996S|SMARCA4_uc002mqj.3_Missense_Mutation_p.I996S|SMARCA4_uc010dxs.2_Missense_Mutation_p.I996S|SMARCA4_uc010dxt.1_Missense_Mutation_p.I216S|SMARCA4_uc002mqh.3_Missense_Mutation_p.I119S|SMARCA4_uc002mqi.1_Missense_Mutation_p.I199S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	996					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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAGTACGTCATCAAGTGCGAC	0.627			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				G	11135020	T	G	11135020	3	3	275	1	0	0	0	0	1	0	0	0	14770	1435	50	5	3065	5	SMARCA4	19	11135020	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	110442	11135020	47993963	1207	142272											
LDLR	3949	broad.mit.edu	37	chr19	11241983	11241983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtcagtctggaggatgaCgtggcgtgaacatctgcctg	15	8	3	2	rs139757711		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11241983C>T	uc002mqk.3	+	18	2742	c.2574C>T	c.(2572-2574)GAC>GAT	p.D858D	LDLR_uc010xlk.1_Silent_p.D856D|LDLR_uc010xll.1_Silent_p.D817D|LDLR_uc010xlm.1_Silent_p.D711D|LDLR_uc010xln.1_Silent_p.D680D|LDLR_uc010xlo.1_Silent_p.D690D|LDLR_uc010dxu.2_Missense_Mutation_p.T25M	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	858	Required for MYLIP-triggered down- regulation of LDLR.|Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4		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)	TGGAGGATGACGTGGCGTGAA	0.527											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11241983	C	T	11241983	2	4	275	1	0	0	0	0	0	0	0	1	8704	535	19	1		1	LDLR	19	11241983	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	106963	11241983	47887000	1208	142273											
DOCK6	57572	broad.mit.edu	37	chr19	11356356	11356356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccccttcatggagtcCgagttcaggtcgaagtagaa	12	10	2	1	rs79202547	by1000genomes	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:11356356C>T	uc002mqs.3	-	9	947	c.906G>A	c.(904-906)TCG>TCA	p.S302S		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	302					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCATGGAGTCCGAGTTCAGGT	0.592													T	11356356	C	T	11356356	2	4	275	1	0	0	0	0	0	0	0	1	4691	639	23	1		1	DOCK6	19	11356356	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	114373	11356356	47772627	1209	142274											
ZNF700	90592	broad.mit.edu	37	chr19	12060510	12060510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgatatcatgaaaggacTcacactggagagaaacccta	8	10	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:12060510T>C	uc002msu.2	+	4	1797	c.1671T>C	c.(1669-1671)ACT>ACC	p.T557T	ZNF700_uc010xme.1_Silent_p.T575T|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	557	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGAAAGGACTCACACTGGAG	0.438													C	12060510	T	C	12060510	2	2	275	1	0	0	0	0	0	0	0	1	18101	1538	54	3		3	ZNF700	19	12060510	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	704154	12060510	47068473	1210	142275											
ZNF442	79973	broad.mit.edu	37	chr19	12461306	12461306	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagttctttcatgactttGcagtgaactaggacaatcaa	9	7	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:12461306G>A	uc002mtr.1	-	6	1704	c.1093C>T	c.(1093-1095)CAA>TAA	p.Q365*	ZNF442_uc010xmk.1_Nonsense_Mutation_p.Q296*	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	365	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TCATGACTTTGCAGTGAACTA	0.413													A	12461306	G	A	12461306	4	1	275	1	0	0	0	0	0	1	0	0	17912	1328	46	2	794	2	ZNF442	19	12461306	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	400796	12461306	46667677	1211	142276											
HOOK2	29911	broad.mit.edu	37	chr19	12883473	12883473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaccgattcttccagcGtcatgattctctggatgtgg	11	10	3	2	rs112046714		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:12883473G>A	uc002muy.2	-	6	581	c.410C>T	c.(409-411)ACG>ATG	p.T137M	HOOK2_uc002muz.2_Missense_Mutation_p.T137M	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	137	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				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			ovary(1)|breast(1)|skin(1)	3						TTCTTCCAGCGTCATGATTCT	0.582													A	12883473	G	A	12883473	3	1	275	1	0	0	0	0	1	0	0	0	7283	1145	40	1	1821	1	HOOK2	19	12883473	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	422167	12883473	46245510	1212	142277											
CALR	811	broad.mit.edu	37	chr19	13051174	13051174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgattgggacttcctgCcacccaagaagataaaggat	10	9	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:13051174C>T	uc002mvu.2	+	5	690	c.610C>T	c.(610-612)CCA>TCA	p.P204S		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	204	P-domain.|4 X approximate repeats.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACTTCCTGCCACCCAAGAA	0.532													T	13051174	C	T	13051174	3	4	275	1	0	0	0	0	1	0	0	0	2592	739	26	2	628	2	CALR	19	13051174	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	167701	13051174	46077809	1213	142278											
LPHN1	22859	broad.mit.edu	37	chr19	14269310	14269310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcactgtggcattctccGtggacaggaagaggcccagg	14	11	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:14269310G>A	uc010xnn.1	-	13	2515	c.2219C>T	c.(2218-2220)ACG>ATG	p.T740M	LPHN1_uc010xno.1_Missense_Mutation_p.T735M|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	740	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GGCATTCTCCGTGGACAGGAA	0.592													A	14269310	G	A	14269310	3	1	275	1	0	0	0	0	1	0	0	0	8915	1145	40	1	2253	1	LPHN1	19	14269310	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1218136	14269310	44859673	1214	142279											
SLC1A6	6511	broad.mit.edu	37	chr19	15065082	15065082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacgaacctggtgatgCggcggtccacacccaggccc	14	15	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:15065082C>T	uc002naa.1	-	7	1237	c.1229G>A	c.(1228-1230)CGC>CAC	p.R410H	SLC1A6_uc010dzu.1_Missense_Mutation_p.R332H|SLC1A6_uc010xod.1_Missense_Mutation_p.R346H	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	410					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CCTGGTGATGCGGCGGTCCAC	0.647													T	15065082	C	T	15065082	3	4	275	1	0	0	0	0	1	0	0	0	14436	768	27	1	477	1	SLC1A6	19	15065082	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	795772	15065082	44063901	1215	142280											
SYDE1	85360	broad.mit.edu	37	chr19	15224566	15224566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttcctgccctgtgggcGggatttcctgtccgggccag	15	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:15224566G>A	uc002nah.1	+	8	2031	c.2000G>A	c.(1999-2001)CGG>CAG	p.R667Q	SYDE1_uc002nai.1_Missense_Mutation_p.R600Q|SYDE1_uc002naj.1_Missense_Mutation_p.R324Q	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	667					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						CCCTGTGGGCGGGATTTCCTG	0.697													A	15224566	G	A	15224566	3	1	275	1	0	0	0	0	1	0	0	0	15432	1116	39	1	2030	1	SYDE1	19	15224566	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	159484	15224566	43904417	1216	142281											
OR10H3	26532	broad.mit.edu	37	chr19	15852693	15852693	+	Frame_Shift_Del	DEL	T	T	-													gatgatggtgacaatgatggTttttcacctcactttctgtg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:15852692_15852692GT>G	uc010xoq.2	+	0	490	c.490_490GT>G	c.(490-492)gttfs	p.V164fs		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	164					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						GACAATGATGGTTTTTCACCT	0.507													-	15852693	T	-	15852693	7	5	275	1	0	1	0	1	0	0	0	0	10907	1725	60	0	493	0	OR10H3	19	15852693	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	628127	15852693	43276290	1217	142282											
CPAMD8	27151	broad.mit.edu	37	chr19	17013616	17013616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggctcctggaggcttaCgagcagctggaaagctggct	14	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:17013616C>T	uc002nfb.2	-	35	4701	c.4669G>A	c.(4669-4671)GTA>ATA	p.V1557I	CPAMD8_uc002nfd.1_Missense_Mutation_p.V22I	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1510						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGGAGGCTTACGAGCAGCTGG	0.652													T	17013616	C	T	17013616	3	4	275	1	0	0	0	0	1	0	0	0	3795	536	19	1	1161	1	CPAMD8	19	17013616	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1160923	17013616	42115367	1218	142283											
CPAMD8	27151	broad.mit.edu	37	chr19	17091392	17091392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggtggtgtgggcaggCtgctggcccgatagcacaat	17	9	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:17091392C>T	uc002nfb.2	-	14	1673	c.1641G>A	c.(1639-1641)CAG>CAA	p.Q547Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	500						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGTGGGCAGGCTGCTGGCCCG	0.577													T	17091392	C	T	17091392	2	4	275	1	0	0	0	0	0	0	0	1	3795	796	28	2		2	CPAMD8	19	17091392	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	77776	17091392	42037591	1219	142284											
B3GNT3	10331	broad.mit.edu	37	chr19	17922436	17922436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgccagcttcgtgctcaaCggggatgatgacgtctttgc	12	11	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:17922436C>T	uc002nhk.1	+	3	709	c.624C>T	c.(622-624)AAC>AAT	p.N208N	B3GNT3_uc002nhl.1_Silent_p.N208N|B3GNT3_uc010ebd.1_Silent_p.N208N|B3GNT3_uc010ebe.1_Silent_p.N208N	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	208	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						TCGTGCTCAACGGGGATGATG	0.582													T	17922436	C	T	17922436	2	4	275	1	0	0	0	0	0	0	0	1	1258	535	19	1		1	B3GNT3	19	17922436	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	831044	17922436	41206547	1220	142285											
KIAA1683	80726	broad.mit.edu	37	chr19	18376825	18376825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatggtggccaccgagcGtaactgggctggggtcttgg	19	8	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:18376825G>A	uc002nin.2	-	3	1741	c.1525C>T	c.(1525-1527)CGC>TGC	p.R509C	KIAA1683_uc010ebn.2_Missense_Mutation_p.R509C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R463C	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	509						mitochondrion				ovary(2)	2						GCCACCGAGCGTAACTGGGCT	0.597													A	18376825	G	A	18376825	3	1	275	1	0	0	0	0	1	0	0	0	8251	1145	40	1	2586	1	KIAA1683	19	18376825	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	454389	18376825	40752158	1221	142286											
COPE	11316	broad.mit.edu	37	chr19	19010503	19010503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcaggcgctgggagcGtactgtagcaccagcctgtc	13	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:19010503G>A	uc002nkk.2	-	10	954	c.912C>T	c.(910-912)TAC>TAT	p.Y304Y	LASS1_uc010ebx.2_5'Flank|COPE_uc002nkl.2_Silent_p.Y253Y|COPE_uc002nkm.2_Silent_p.Y252Y|COPE_uc002nkn.2_Silent_p.Y327Y	NM_007263	NP_009194	O14579	COPE_HUMAN	epsilon subunit of coatomer protein complex	304					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				0						CGCTGGGAGCGTACTGTAGCA	0.637													A	19010503	G	A	19010503	2	1	275	1	0	0	0	0	0	0	0	1	3730	1140	40	1		1	COPE	19	19010503	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	633678	19010503	40118480	1222	142287											
ZNF85	7639	broad.mit.edu	37	chr19	21132748	21132748	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actagacataagaaaagtcaTacagaagagaaaccttacaa	6	7	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:21132748T>C	uc002npg.3	+	4	1555	c.1428T>C	c.(1426-1428)CAT>CAC	p.H476H	ZNF85_uc010ecn.2_Silent_p.H411H|ZNF85_uc010eco.2_Silent_p.H424H|ZNF85_uc002npi.2_Silent_p.H417H	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	476	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						AGAAAAGTCATACAGAAGAGA	0.348													C	21132748	T	C	21132748	2	2	275	1	0	0	0	0	0	0	0	1	18190	1403	49	3		3	ZNF85	19	21132748	Silent	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2122245	21132748	37996235	1223	142288											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	275	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	869278	22002026	37126957	1224	142289											
ZNF676	163223	broad.mit.edu	37	chr19	22363776	22363776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaGtatgaattatcttatgttta	7	5	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:22363776G>A	uc002nqs.1	-	3	1061	c.743C>T	c.(742-744)ACT>ATT	p.T248I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCTCTCCAGTATGAATTAT	0.378													A	22363776	G	A	22363776	3	1	275	1	0	0	0	0	1	0	0	0	18080	1029	36	4	1027	4	ZNF676	19	22363776	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	361750	22363776	36765207	1225	142290											
ZNF91	7644	broad.mit.edu	37	chr19	23544256	23544257	+	Frame_Shift_Del	DEL	TA	TA	-													ctctccagtatgaattatctTatgtttagtaagggttgagg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:23544256_23544257delTA	uc002nre.2	-	4	1637_1638	c.1524_1525delTA	c.(1522-1527)CATAAGfs	p.H508fs	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Frame_Shift_Del_p.H476fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	508_509	C2H2-type 13.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAATTATCTTATGTTTAGTAA	0.361													-	23544257	TA	-	23544256	7	5	275	1	0	1	0	1	0	0	0	0	18197	1763	61	0	2054	0	ZNF91	19	23544256	Frame_Shift_Del	DEL	TA	TCGA-HU-A4GX-01A-12D-A25D-08	1180480	23544256	35584727	1226	142291											
SLC7A9	11136	broad.mit.edu	37	chr19	33353056	33353056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagagtccattgtaaaaCgccaggctgatggctcccac	10	14	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33353056C>T	uc002ntv.3	-	6	789	c.672G>A	c.(670-672)GCG>GCA	p.A224A	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.A224A|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	224	Helical; (Potential).		A -> V (in CSNU; non-classic type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CATTGTAAAACGCCAGGCTGA	0.532													T	33353056	C	T	33353056	2	4	275	1	0	0	0	0	0	0	0	1	14705	523	19	1		1	SLC7A9	19	33353056	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	9808800	33353056	25775927	1227	142292											
SLC7A9	11136	broad.mit.edu	37	chr19	33353080	33353080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgatggctcccacagaCagctgggcgccctcgaaaga	13	13	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33353080C>T	uc002ntv.3	-	6	765	c.648G>A	c.(646-648)CTG>CTA	p.L216L	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.L216L|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	216	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTCCCACAGACAGCTGGGCGC	0.532													T	33353080	C	T	33353080	2	4	275	1	0	0	0	0	0	0	0	1	14705	465	17	4		4	SLC7A9	19	33353080	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	24	33353080	25775903	1228	142293											
C19orf40	91442	broad.mit.edu	37	chr19	33464997	33464997	+	Frame_Shift_Del	DEL	A	A	-													taaaggaattgtagtcgttgAaaaaacccggatgagtgaac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33464996_33464996GA>G	uc002nud.4	+	3	392	c.274_274GA>G	c.(274-276)gaafs	p.E92fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	92					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding	p.E92Q(4)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418								Direct reversal of damage					-	33464997	A	-	33464997	7	5	275	1	0	1	0	1	0	0	0	0	1923	246	9	0	285	0	C19orf40	19	33464997	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	111917	33464997	25663986	1229	142294											
WDR88	126248	broad.mit.edu	37	chr19	33623249	33623249	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgcacctgctggccaccctCgaccccctggccttggacag	10	19	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:33623249C>T	uc002nui.2	+	1	252	c.174C>T	c.(172-174)CTC>CTT	p.L58L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	58										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TGGCCACCCTCGACCCCCTGG	0.642													T	33623249	C	T	33623249	2	4	275	1	0	0	0	0	0	0	0	1	17332	871	31	1		1	WDR88	19	33623249	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	158252	33623249	25505734	1230	142295											
MAG	4099	broad.mit.edu	37	chr19	35786581	35786581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccttcgaaggcacgtgcGtctccatcccctgccgcttt	10	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:35786581G>A	uc002nyy.1	+	4	261	c.112G>A	c.(112-114)GTC>ATC	p.V38I	MAG_uc002nyx.1_Missense_Mutation_p.V38I|MAG_uc010eds.1_Missense_Mutation_p.V13I|MAG_uc002nyz.1_Missense_Mutation_p.V38I	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	38	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			AGGCACGTGCGTCTCCATCCC	0.647													A	35786581	G	A	35786581	3	1	275	1	0	0	0	0	1	0	0	0	9162	1145	40	1	118	1	MAG	19	35786581	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2163332	35786581	23342402	1231	142296											
ATP4A	495	broad.mit.edu	37	chr19	36046612	36046612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctacgggcacacggaggcGggcagcgatgtcctccactg	15	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:36046612G>A	uc002oal.1	-	13	2001	c.1972C>T	c.(1972-1974)CGC>TGC	p.R658C	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	658	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	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)	ACACGGAGGCGGGCAGCGATG	0.632													A	36046612	G	A	36046612	3	1	275	1	0	0	0	0	1	0	0	0	1145	1116	39	1	1175	1	ATP4A	19	36046612	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	260031	36046612	23082371	1232	142297											
MLL2	8085	broad.mit.edu	37	chr19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-													cctagcagatgtggctcctaCccccccaaagacccctgccc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36210764	C	-	36210764	7	5	275	1	0	1	0	1	0	0	0	0	9621	507	18	0		0	MLL2	19	36210764	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	164152	36210764	22918219	1233	142298											
KIRREL2	84063	broad.mit.edu	37	chr19	36351526	36351526	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctgcgaggtcagcaaCgccgtgggtagcgccaaccg	15	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:36351526C>T	uc002ocb.3	+	7	1097	c.885C>T	c.(883-885)AAC>AAT	p.N295N	KIRREL2_uc002obz.3_Silent_p.N295N|KIRREL2_uc002oca.3_Silent_p.N245N|KIRREL2_uc002occ.3_Silent_p.N242N|KIRREL2_uc002ocd.3_Silent_p.N292N	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	295	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)			AGGTCAGCAACGCCGTGGGTA	0.667													T	36351526	C	T	36351526	2	4	275	1	0	0	0	0	0	0	0	1	8325	535	19	1		1	KIRREL2	19	36351526	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	140762	36351526	22777457	1234	142299											
ZNF829	374899	broad.mit.edu	37	chr19	37382942	37382942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcattaaggtttgagcaatActtaaaggcttttccacatt	6	7	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:37382942A>G	uc002ofa.1	-	6	1113	c.751T>C	c.(751-753)TAT>CAT	p.Y251H	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	251	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGAGCAATACTTAAAGGCT	0.358													G	37382942	A	G	37382942	3	3	275	1	0	0	0	0	1	0	0	0	18179	391	14	3	551	3	ZNF829	19	37382942	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1031416	37382942	21746041	1235	142300											
ZFP30	22835	broad.mit.edu	37	chr19	38126828	38126828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagaagtatgaattctcTgatgtcgactgaggtgggca	13	6	2	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:38126828T>C	uc002ogv.1	-	6	1130	c.614A>G	c.(613-615)CAG>CGG	p.Q205R	ZFP30_uc002ogw.1_Missense_Mutation_p.Q205R|ZFP30_uc002ogx.1_Missense_Mutation_p.Q205R|ZFP30_uc010xtt.1_Missense_Mutation_p.Q204R	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	205	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAATTCTCTGATGTCGACT	0.383													C	38126828	T	C	38126828	3	2	275	1	0	0	0	0	1	0	0	0	17641	1580	55	3	949	3	ZFP30	19	38126828	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	743886	38126828	21002155	1236	142301											
ZNF607	84775	broad.mit.edu	37	chr19	38190427	38190427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcctaaaagcttccccaCactctttacattcatagggt	5	12	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:38190427C>T	uc002ohc.1	-	5	1201	c.605G>A	c.(604-606)TGT>TAT	p.C202Y	ZNF607_uc002ohb.1_Missense_Mutation_p.C201Y	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	202	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGCTTCCCCACACTCTTTACA	0.413													T	38190427	C	T	38190427	3	4	275	1	0	0	0	0	1	0	0	0	18030	478	17	4	1489	4	ZNF607	19	38190427	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	63599	38190427	20938556	1237	142302											
RYR1	6261	broad.mit.edu	37	chr19	38991585	38991585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctgcacgtgctggaCgtggggttcctgcccgacat	13	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:38991585C>T	uc002oit.2	+	47	7699	c.7569C>T	c.(7567-7569)GAC>GAT	p.D2523D	RYR1_uc002oiu.2_Silent_p.D2523D|RYR1_uc002oiv.1_Translation_Start_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2523	Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGTGCTGGACGTGGGGTTCC	0.637													T	38991585	C	T	38991585	2	4	275	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38991585	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	801158	38991585	20137398	1238	142303											
SAMD4B	55095	broad.mit.edu	37	chr19	39847556	39847556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttccgagaccaggtggGcatcctcgctggctggttca	14	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:39847556G>A	uc002olb.2	+	5	1058	c.23G>A	c.(22-24)GGC>GAC	p.G8D	SAMD4B_uc002ola.2_Missense_Mutation_p.G8D	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	8							protein binding				0	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)			GACCAGGTGGGCATCCTCGCT	0.672													A	39847556	G	A	39847556	3	1	275	1	0	0	0	0	1	0	0	0	13822	1203	42	2	25	2	SAMD4B	19	39847556	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	855971	39847556	19281427	1239	142304											
SELV	348303	broad.mit.edu	37	chr19	40009541	40009543	+	Splice_Site	DEL	AGG	AGG	-													tacgctcaccatttcctcccAggaggaggacagagctgccc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:40009540_40009542CAGG>C	uc021uum.1	+	4	989	c.889_splice	c.e4-1	p.E297_splice		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	297					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	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;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATTTCCTCCCAGGAGGAGGACA	0.601													-	40009543	AGG	-	40009541	8	5	275	1	0	1	0	1	0	0	1	0	14023	202	7	0	901	0	SELV	19	40009541	Splice_Site	DEL	AGG	TCGA-HU-A4GX-01A-12D-A25D-08	161985	40009541	19119442	1240	142305											
AKT2	208	broad.mit.edu	37	chr19	40747850	40747850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggggcacgcaccttggCaatgatgacttccttccgca	10	15	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:40747850C>T	uc002onf.2	-	6	830	c.568G>A	c.(568-570)GCC>ACC	p.A190T	AKT2_uc010egs.2_Missense_Mutation_p.A190T|AKT2_uc010egt.2_Missense_Mutation_p.A128T|AKT2_uc010xvj.1_Missense_Mutation_p.A128T|AKT2_uc010egu.1_Missense_Mutation_p.A128T|AKT2_uc010xvk.1_Missense_Mutation_p.A190T|AKT2_uc002one.2_Missense_Mutation_p.A86T	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	190	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			lung(2)	2			Lung(22;0.000499)			CGCACCTTGGCAATGATGACT	0.622			A		ovarian|pancreatic 								T	40747850	C	T	40747850	3	4	275	1	0	0	0	0	1	0	0	0	480	710	25	2	913	2	AKT2	19	40747850	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	738309	40747850	18381133	1241	142306											
HIPK4	147746	broad.mit.edu	37	chr19	40895647	40895647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtgcagcagcttcagctCgttcttgatgatgcggttgc	13	10	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:40895647C>T	uc002onp.2	-	1	448	c.163G>A	c.(163-165)GAG>AAG	p.E55K		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	55	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGCTTCAGCTCGTTCTTGATG	0.592													T	40895647	C	T	40895647	3	4	275	1	0	0	0	0	1	0	0	0	7119	893	31	1	1703	1	HIPK4	19	40895647	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	147797	40895647	18233336	1242	142307											
CYP2A7	1549	broad.mit.edu	37	chr19	41386388	41386388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaccttactcaccgtgCgtgctccggatggcctcgat	13	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:41386388C>T	uc002opm.2	-	3	1031	c.489G>A	c.(487-489)ACG>ACA	p.T163T	CYP2A7_uc002opo.2_Silent_p.T163T|CYP2A7_uc002opn.2_Silent_p.T112T	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	163				T -> S (in Ref. 1; AAA52138).		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTCACCGTGCGTGCTCCGGA	0.662													T	41386388	C	T	41386388	2	4	275	1	0	0	0	0	0	0	0	1	4163	755	27	1		1	CYP2A7	19	41386388	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	490741	41386388	17742595	1243	142308											
CEACAM5	1048	broad.mit.edu	37	chr19	42224975	42224976	+	Frame_Shift_Del	DEL	AC	AC	-													atcaatgggataccgcagcaAcacacacaagttctctttat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:42224974_42224975AAC>A	uc002orl.3	+	7	2025_2026	c.1904_1905AAC>A	c.(1903-1905)caafs	p.Q635fs	CEACAM5_uc002orj.1_Frame_Shift_Del_p.Q634fs	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	635	Ig-like 7.					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)		ATACCGCAGCAACACACACAAG	0.495													-	42224976	AC	-	42224975	7	5	275	1	0	1	0	1	0	0	0	0	3195	40	2	0	1935	0	CEACAM5	19	42224975	Frame_Shift_Del	DEL	AC	TCGA-HU-A4GX-01A-12D-A25D-08	838587	42224975	16904008	1244	142309											
ATP1A3	478	broad.mit.edu	37	chr19	42492087	42492087	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagggtccaggcactcaCgttgtcaccagaggggtcgt	16	11	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:42492087C>T	uc002osg.2	-	4	511	c.357_splice	c.e4+1	p.N119_splice	ATP1A3_uc010xwf.1_Splice_Site_p.N130_splice|ATP1A3_uc010xwg.1_Splice_Site_p.N89_splice|ATP1A3_uc010xwh.1_Splice_Site_p.N132_splice|ATP1A3_uc002osh.2_Splice_Site_p.N119_splice	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit						ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CAGGCACTCACGTTGTCACCA	0.537													T	42492087	C	T	42492087	5	4	275	1	0	0	0	0	0	0	1	0	1130	550	19	1	2763	1	ATP1A3	19	42492087	Splice_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	267112	42492087	16636896	1245	142310											
CEACAM1	634	broad.mit.edu	37	chr19	43026353	43026353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagggcttgggcagctcCgctatgcagaaaacagagag	15	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:43026353C>T	uc002otv.2	-	3	539	c.426G>A	c.(424-426)CCG>CCA	p.P142P	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.P142P|CEACAM1_uc010eij.2_Silent_p.P142P|CEACAM1_uc002otx.2_Silent_p.P142P|CEACAM1_uc002oty.2_Silent_p.P142P|CEACAM1_uc002otz.2_Silent_p.P142P|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.P142P|CEACAM1_uc002oub.2_Silent_p.P142P|CEACAM1_uc002ouc.2_Silent_p.P142P	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	142	Ig-like V-type.|Extracellular (Potential).			P -> H (in Ref. 5; AAA57142).	angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGGGCAGCTCCGCTATGCAGA	0.438													T	43026353	C	T	43026353	2	4	275	1	0	0	0	0	0	0	0	1	3187	666	23	1		1	CEACAM1	19	43026353	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	534266	43026353	16102630	1246	142311											
ZFP112	7771	broad.mit.edu	37	chr19	44833358	44833359	+	Frame_Shift_Del	DEL	CT	CT	-													tggtttctcctctgtatgcaCtctctgataggatttcagat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:44833357_44833358ACT>A	uc010xwy.2	-	4	1139_1140	c.1021_1022AGT>T	c.(1021-1023)gtgfs	p.V341fs	ZFP112_uc010ejj.3_Frame_Shift_Del_p.V324fs|ZFP112_uc002ozc.4_Frame_Shift_Del_p.V318fs|ZFP112_uc010xwz.2_Frame_Shift_Del_p.V323fs	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CTCTGTATGCACTCTCTGATAG	0.371													-	44833359	CT	-	44833358	7	5	275	1	0	1	0	1	0	0	0	0	17635	565	20	0	1775	0	ZFP112	19	44833358	Frame_Shift_Del	DEL	CT	TCGA-HU-A4GX-01A-12D-A25D-08	1807005	44833358	14295625	1247	142312											
CBLC	23624	broad.mit.edu	37	chr19	45281204	45281204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccatggctctggcggtgGccccgtgggggcgacagtgg	18	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:45281204G>A	uc002ozs.2	+	1	79	c.16G>A	c.(16-18)GCC>ACC	p.A6T	CBLC_uc010ejt.2_Missense_Mutation_p.A6T	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	6					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			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TCTGGCGGTGGCCCCGTGGGG	0.716			M		AML								A	45281204	G	A	45281204	3	1	275	1	0	0	0	0	1	0	0	0	2702	1203	42	2	18	2	CBLC	19	45281204	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	447846	45281204	13847779	1248	142313											
ERCC1	2067	broad.mit.edu	37	chr19	45916943	45916943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagctcttactttctgagGgcccaggcctgggcataagg	13	11	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:45916943G>T	uc002pbs.1	-	9	981	c.835C>A	c.(835-837)CCT>ACT	p.P279T	ERCC1_uc002pbt.1_Missense_Mutation_p.P255T|ERCC1_uc002pbu.1_Missense_Mutation_p.P207T|ERCC1_uc002pbv.2_Missense_Mutation_p.P279T	NM_001983	NP_001974	P07992	ERCC1_HUMAN	excision repair cross-complementing 1 isofrom 2	279					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			ovary(2)	2		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		ACTTTCTGAGGGCCCAGGCCT	0.517								NER					T	45916943	G	T	45916943	3	4	275	1	0	0	0	0	1	0	0	0	5212	1232	43	5	195	5	ERCC1	19	45916943	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	635739	45916943	13212040	1249	142314											
GPR4	2828	broad.mit.edu	37	chr19	46094061	46094061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcggcagcatcttcAgctgcacctggtccccctgg	13	15	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:46094061A>G	uc002pcm.2	-	2	2009	c.1064T>C	c.(1063-1065)CTG>CCG	p.L355P	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	355	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CAGCATCTTCAGCTGCACCTG	0.612													G	46094061	A	G	46094061	3	3	275	1	0	0	0	0	1	0	0	0	6694	188	7	3	28	3	GPR4	19	46094061	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	177118	46094061	13034922	1250	142315											
FAM83E	54854	broad.mit.edu	37	chr19	49113957	49113957	+	Frame_Shift_Del	DEL	C	C	-													ctccgtgttccaggggttcaCccccagctgctgggccagtt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49113957delC	uc002pjn.2	-	2	678	c.613delG	c.(613-615)GTGfs	p.V205fs		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	205										ovary(1)	1		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)		CAGGGGTTCACCCCCAGCTGC	0.682													-	49113957	C	-	49113957	7	5	275	1	0	1	0	1	0	0	0	0	5637	507	18	0	839	0	FAM83E	19	49113957	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	3019896	49113957	10015026	1251	142316											
MAMSTR	284358	broad.mit.edu	37	chr19	49218106	49218107	+	Frame_Shift_Ins	INS	-	-	G													ctgaagttccaacttgtgtgINSgggggggcgaggggctaggg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49218105_49218106T>TG	uc002pkg.2	-	5	547_548	c.485_486A>CA	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													G	49218107	-	G	49218106	7	5	275	1	0	1	1	0	0	0	0	0	9209	1348	47	0	782	0	MAMSTR	19	49218106	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	104149	49218106	9910877	1252	142317											
RASIP1	54922	broad.mit.edu	37	chr19	49238458	49238458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcggcggttacctgggCgtcctggtagccctggagca	18	11	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49238458C>T	uc002pki.2	-	4	1371	c.1174G>A	c.(1174-1176)GCC>ACC	p.A392T		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	392					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		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)		GTTACCTGGGCGTCCTGGTAG	0.652													T	49238458	C	T	49238458	3	4	275	1	0	0	0	0	1	0	0	0	13078	768	27	1	1753	1	RASIP1	19	49238458	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	20352	49238458	9890525	1253	142318											
TULP2	7288	broad.mit.edu	37	chr19	49398261	49398261	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccctaaattaccaggtcGttggtgggcttgccaaccct	10	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:49398261G>A	uc002pkz.2	-	6	659	c.508C>T	c.(508-510)CGA>TGA	p.R170*		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	170					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TTACCAGGTCGTTGGTGGGCT	0.478													A	49398261	G	A	49398261	4	1	275	1	0	0	0	0	0	1	0	0	16771	1153	40	1	1086	1	TULP2	19	49398261	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	159803	49398261	9730722	1254	142319											
FCGRT	2217	broad.mit.edu	37	chr19	50017380	50017380	+	Frame_Shift_Del	DEL	G	G	-													ctggaagctttcaaagctttGgggggaaaaggtgagattcc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50017380delG	uc002poe.2	+	3	801	c.315delG	c.(313-315)TTGfs	p.L105fs	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Frame_Shift_Del_p.L105fs|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Frame_Shift_Del_p.L105fs|FCGRT_uc002poh.1_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	105	Extracellular (Potential).|Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TCAAAGCTTTGGGGGGAAAAG	0.577													-	50017380	G	-	50017380	7	5	275	1	0	1	0	1	0	0	0	0	5786	1339	47	0	321	0	FCGRT	19	50017380	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	619119	50017380	9111603	1255	142320											
MED25	81857	broad.mit.edu	37	chr19	50333052	50333052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctacagcgggggatcCacttctccattgtgtctccc	8	16	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50333052C>A	uc002ppw.1	+	6	588	c.535C>A	c.(535-537)CAC>AAC	p.H179N	MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'UTR	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	179	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		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)		GCGGGGGATCCACTTCTCCAT	0.657													A	50333052	C	A	50333052	3	1	275	1	0	0	0	0	1	0	0	0	9443	594	21	5	557	5	MED25	19	50333052	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	315672	50333052	8795931	1256	142321											
MED25	81857	broad.mit.edu	37	chr19	50335366	50335366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcccccaggaagacggaGcagtggccccagaagctgat	13	13	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50335366G>A	uc002ppw.1	+	12	1379	c.1326G>A	c.(1324-1326)GAG>GAA	p.E442E	MED25_uc010ybe.1_Silent_p.E229E|MED25_uc002ppx.1_Silent_p.E223E	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	442	Interaction with VP16.|Interaction with CREBBP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		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)		GGAAGACGGAGCAGTGGCCCC	0.682													A	50335366	G	A	50335366	2	1	275	1	0	0	0	0	0	0	0	1	9443	962	34	2		2	MED25	19	50335366	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2314	50335366	8793617	1257	142322											
NUP62	23636	broad.mit.edu	37	chr19	50412225	50412230	+	In_Frame_Del	DEL	GGTGGC	GGTGGC	-													gtgctgctgctgctggtggtGgtggcggtggcggtggcagc					rs140091070	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50412224_50412229TGGTGGC>T	uc002prb.3	-	1	1080_1085	c.836_841GCCACCA>A	c.(835-843)gccaccacc>gAcc	p.279_281ATT>D	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002pqy.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002pra.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002pqz.3_In_Frame_Del_p.279_281ATT>D|NUP62_uc002prc.3_Splice_Site_p.T278_splice|NUP62_uc021uya.1_In_Frame_Del_p.279_281ATT>D	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	279	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ctgctggtggtggtggcggtggcggt	0.646													-	50412230	GGTGGC	-	50412225	7	5	275	1	0	1	0	1	0	0	0	0	10768	1335	47	0	732	0	NUP62	19	50412225	In_Frame_Del	DEL	GGTGGC	TCGA-HU-A4GX-01A-12D-A25D-08	76859	50412225	8716758	1258	142323											
MYH14	79784	broad.mit.edu	37	chr19	50764825	50764825	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcccagctggaagaggagCgagacctgaaggtcaccgac	15	11	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:50764825C>A	uc002prr.1	+	19	2442	c.2395C>A	c.(2395-2397)CGA>AGA	p.R799R	MYH14_uc010enu.1_Silent_p.R840R|MYH14_uc002prq.1_Silent_p.R807R	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	799	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAAGAGGAGCGAGACCTGAA	0.642													A	50764825	C	A	50764825	2	1	275	1	0	0	0	0	0	0	0	1	10033	760	27	5		5	MYH14	19	50764825	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	352600	50764825	8364158	1259	142324											
LRRC4B	94030	broad.mit.edu	37	chr19	51021769	51021769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgggtcatgagggtgcCgttgggcgtcagccagttga	18	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:51021769C>T	uc002pss.2	-	3	1338	c.1201G>A	c.(1201-1203)GGC>AGC	p.G401S		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	401	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ATGAGGGTGCCGTTGGGCGTC	0.652													T	51021769	C	T	51021769	3	4	275	1	0	0	0	0	1	0	0	0	9007	652	23	1	944	1	LRRC4B	19	51021769	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	256944	51021769	8107214	1260	142325											
KLK6	5653	broad.mit.edu	37	chr19	51465088	51465088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcatgctcacactcctcaCgggacaccaggtggatgtat	11	12	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:51465088C>T	uc002pui.2	-	6	754	c.494G>A	c.(493-495)CGT>CAT	p.R165H	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R174H|KLK6_uc002puj.2_Missense_Mutation_p.R58H|KLK6_uc010ycn.1_Missense_Mutation_p.R58H|KLK6_uc002pul.2_Missense_Mutation_p.R165H|KLK6_uc002pum.2_Missense_Mutation_p.R58H	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	165	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				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACACTCCTCACGGGACACCAG	0.577													T	51465088	C	T	51465088	3	4	275	1	0	0	0	0	1	0	0	0	8408	536	19	1	248	1	KLK6	19	51465088	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	443319	51465088	7663895	1261	142326											
KLK12	43849	broad.mit.edu	37	chr19	51537328	51537328	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaaacagccccacctgCcacggctgtgagttacgccc	8	19	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:51537328C>T	uc002pvg.1	-	2	225	c.105G>A	c.(103-105)TGG>TGA	p.W35*	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Missense_Mutation_p.G12D|KLK12_uc010ycr.1_Missense_Mutation_p.G12D|KLK12_uc010ycs.1_Missense_Mutation_p.G12D|KLK12_uc002pvh.1_Nonsense_Mutation_p.W35*|KLK12_uc002pvi.1_Nonsense_Mutation_p.W35*|KLK12_uc002pvj.1_Nonsense_Mutation_p.W35*	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	35	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCCCCACCTGCCACGGCTGTG	0.602													T	51537328	C	T	51537328	4	4	275	1	0	0	0	0	0	1	0	0	8400	740	26	2	719	2	KLK12	19	51537328	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	72240	51537328	7591655	1262	142327											
SIGLEC12	89858	broad.mit.edu	37	chr19	52000164	52000164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccctgacagcgtttgcGtcctccatgcctgtatcccc	9	17	0	1	rs145034575		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:52000164G>A	uc002pwx.1	-	7	1625	c.1569C>T	c.(1567-1569)GAC>GAT	p.D523D	SIGLEC12_uc002pww.1_Silent_p.D405D|SIGLEC12_uc010eoy.1_Silent_p.D250D	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	523	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCGTTTGCGTCCTCCATGC	0.577													A	52000164	G	A	52000164	2	1	275	1	0	0	0	0	0	0	0	1	14308	1136	40	1		1	SIGLEC12	19	52000164	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	462836	52000164	7128819	1263	142328											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115535	52115535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttggggcctcctgGtccttaggctccctcgactt	13	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:52115535G>A	uc002pxe.2	-	9	1744	c.1605C>T	c.(1603-1605)GAC>GAT	p.D535D		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	535	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGGCCTCCTGGTCCTTAGGCT	0.552													A	52115535	G	A	52115535	2	1	275	1	0	0	0	0	0	0	0	1	14311	1252	44	4		4	SIGLEC5	19	52115535	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	115371	52115535	7013448	1264	142329											
FPR1	2357	broad.mit.edu	37	chr19	52249509	52249509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagaaaaaaggctgctgCgacaaaggagaggacccgta	14	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:52249509C>T	uc002pxq.2	-	2	834	c.739G>A	c.(739-741)GCA>ACA	p.A247T		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	247	Helical; Name=6; (Potential).				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			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AAGGCTGCTGCGACAAAGGAG	0.493													T	52249509	C	T	52249509	3	4	275	1	0	0	0	0	1	0	0	0	6038	768	27	1	317	1	FPR1	19	52249509	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	133974	52249509	6879474	1265	142330											
TFPT	29844	broad.mit.edu	37	chr19	54618065	54618065	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgagaactcctcaaagccCacggctgccatggtcctgag	11	14	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:54618065C>A	uc010yej.1	-	2	445	c.39G>T	c.(37-39)GTG>GTT	p.V13V	TFPT_uc010erd.2_Silent_p.V13V|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner	13					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding				0	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)					CCTCAAAGCCCACGGCTGCCA	0.433			T	TCF3	pre-B ALL								A	54618065	C	A	54618065	2	1	275	1	0	0	0	0	0	0	0	1	15807	581	21	5		5	TFPT	19	54618065	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2368556	54618065	4510918	1266	142331											
LENG8	114823	broad.mit.edu	37	chr19	54967272	54967272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgtcccagcgagggacGcccggggctgggggtgccgg	20	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:54967272G>A	uc002qfv.1	+	8	1185	c.1041G>A	c.(1039-1041)ACG>ACA	p.T347T	LENG8_uc002qfw.2_Silent_p.T384T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	347							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCGAGGGACGCCCGGGGCTG	0.667													A	54967272	G	A	54967272	2	1	275	1	0	0	0	0	0	0	0	1	8724	1074	38	1		1	LENG8	19	54967272	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	349207	54967272	4161711	1267	142332											
NLRP7	199713	broad.mit.edu	37	chr19	55450913	55450913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaacacggacatctgcGcccacaggccctgcgcggcc	14	16	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55450913G>A	uc002qih.3	-	4	1350	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	NLRP7_uc002qig.3_Missense_Mutation_p.A425V|NLRP7_uc002qii.3_Missense_Mutation_p.A425V|NLRP7_uc010esk.2_Missense_Mutation_p.A425V|NLRP7_uc010esl.2_Missense_Mutation_p.A453V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	425	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GGACATCTGCGCCCACAGGCC	0.692													A	55450913	G	A	55450913	3	1	275	1	0	0	0	0	1	0	0	0	10482	1087	38	1	1871	1	NLRP7	19	55450913	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	483641	55450913	3678070	1268	142333											
NLRP2	55655	broad.mit.edu	37	chr19	55493930	55493930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcttgttcgtgattgaCggctttgatgagctgggagc	13	6	1	4			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55493930C>T	uc002qij.2	+	6	950	c.864C>T	c.(862-864)GAC>GAT	p.D288D	NLRP2_uc010yfp.1_Silent_p.D265D|NLRP2_uc010esn.2_Silent_p.D264D|NLRP2_uc010eso.2_Silent_p.D285D|NLRP2_uc010esp.2_Silent_p.D266D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	288	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCGTGATTGACGGCTTTGATG	0.577													T	55493930	C	T	55493930	2	4	275	1	0	0	0	0	0	0	0	1	10477	535	19	1		1	NLRP2	19	55493930	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	43017	55493930	3635053	1269	142334											
SAPS1	22870	broad.mit.edu	37	chr19	55748048	55748048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagacgggcccccctggCcagctggctgccctgccagg	14	19	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55748048C>T	uc002qjw.3	-	17	2193	c.1951G>A	c.(1951-1953)GCC>ACC	p.A651T	SAPS1_uc002qjv.2_Missense_Mutation_p.A713T	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	651	Glu-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCCCCCCTGGCCAGCTGGCTG	0.657													T	55748048	C	T	55748048	3	4	275	1	0	0	0	0	1	0	0	0	13836	739	26	2	726	2	SAPS1	19	55748048	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	254118	55748048	3380935	1270	142335											
BRSK1	84446	broad.mit.edu	37	chr19	55815036	55815037	+	Splice_Site	INS	-	-	C													gaaactgttgtccctcagacINScccccccggaagcgtgtgga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:55815035_55815036A>AC	uc002qkf.3	+	14	1302	c.1175_splice	c.e14-1	p.D392_splice	BRSK1_uc002qkg.3_Splice_Site_p.D376_splice|BRSK1_uc002qkh.3_Splice_Site_p.D71_splice|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	376					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		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)		TGTCCCTCAGACCCCCCCCGGA	0.579													C	55815037	-	C	55815036	8	5	275	1	0	1	1	0	0	0	1	0	1523	521	18	0	1174	0	BRSK1	19	55815036	Splice_Site	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	66988	55815036	3313947	1271	142336											
ZNF784	147808	broad.mit.edu	37	chr19	56133455	56133455	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacgcgctcgtggtctcGcatgtctgaggagcggcgga	17	11	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:56133455G>A	uc002qll.1	-	2	648	c.634C>T	c.(634-636)CGA>TGA	p.R212*	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	212	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCGTGGTCTCGCATGTCTGAG	0.512													A	56133455	G	A	56133455	4	1	275	1	0	0	0	0	0	1	0	0	18153	1095	38	1	341	1	ZNF784	19	56133455	Nonsense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	318419	56133455	2995528	1272	142337											
NLRP4	147945	broad.mit.edu	37	chr19	56369488	56369488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcggcttgaacgaaccCgattcggatctgtgtggtga	15	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:56369488C>T	uc002qmd.3	+	3	1151	c.729C>T	c.(727-729)CCC>CCT	p.P243P	NLRP4_uc002qmf.2_Silent_p.P168P|NLRP4_uc010etf.2_Silent_p.P74P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	243	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAACGAACCCGATTCGGATC	0.567													T	56369488	C	T	56369488	2	4	275	1	0	0	0	0	0	0	0	1	10479	639	23	1		1	NLRP4	19	56369488	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	236033	56369488	2759495	1273	142338											
ZNF470	388566	broad.mit.edu	37	chr19	57089695	57089695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagcctttagccatcGtaaatcccttactctgcatc	7	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57089695G>A	uc002qnl.3	+	6	2574	c.1898G>A	c.(1897-1899)CGT>CAT	p.R633H	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	633	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTTAGCCATCGTAAATCCCTT	0.428													A	57089695	G	A	57089695	3	1	275	1	0	0	0	0	1	0	0	0	17926	1145	40	1	1912	1	ZNF470	19	57089695	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	720207	57089695	2039288	1274	142339											
ZNF835	90485	broad.mit.edu	37	chr19	57175695	57175695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggtgctgggtcaggtgcGcgatctgcgcgaaggccttg	18	11	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57175695G>A	uc010ygo.1	-	2	938	c.938C>T	c.(937-939)GCG>GTG	p.A313V	ZNF835_uc010ygn.1_Missense_Mutation_p.A291V	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GGTCAGGTGCGCGATCTGCGC	0.697													A	57175695	G	A	57175695	3	1	275	1	0	0	0	0	1	0	0	0	18183	1087	38	1	743	1	ZNF835	19	57175695	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	86000	57175695	1953288	1275	142340											
ZIM2	23619	broad.mit.edu	37	chr19	57286260	57286260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggctctctctccaacGtagtcatgtttccgctgata	9	12	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57286260G>A	uc002qnr.2	-	11	1762	c.1380C>T	c.(1378-1380)TAC>TAT	p.Y460Y	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.Y256Y|ZIM2_uc010ygr.1_Silent_p.Y256Y|ZIM2_uc002qnq.2_Silent_p.Y460Y|ZIM2_uc010etp.2_Silent_p.Y460Y|ZIM2_uc010ygs.1_Silent_p.Y460Y	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCTCTCCAACGTAGTCATGTT	0.468													A	57286260	G	A	57286260	2	1	275	1	0	0	0	0	0	0	0	1	17681	1140	40	1		1	ZIM2	19	57286260	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	110565	57286260	1842723	1276	142341											
ZNF543	125919	broad.mit.edu	37	chr19	57840064	57840064	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtaggtcacacctcaagCagcatcaacggattcacact	7	14	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57840064C>T	uc002qoi.1	+	4	1579	c.1234C>T	c.(1234-1236)CAG>TAG	p.Q412*		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	412	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		ACACCTCAAGCAGCATCAACG	0.498													T	57840064	C	T	57840064	4	4	275	1	0	0	0	0	0	1	0	0	17973	711	25	2	1248	2	ZNF543	19	57840064	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	553804	57840064	1288919	1277	142342											
ZNF543	125919	broad.mit.edu	37	chr19	57840091	57840091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacggattcacactggggagAagccttatgaatgcagtgaa	12	7	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57840091A>G	uc002qoi.1	+	4	1606	c.1261A>G	c.(1261-1263)AAG>GAG	p.K421E		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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)		CACTGGGGAGAAGCCTTATGA	0.493													G	57840091	A	G	57840091	3	3	275	1	0	0	0	0	1	0	0	0	17973	247	9	3	1275	3	ZNF543	19	57840091	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	27	57840091	1288892	1278	142343											
ZNF17	7565	broad.mit.edu	37	chr19	57932498	57932498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcatattagacatcggagAaatcactttggagaaaggtc	9	6	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:57932498A>G	uc002qoo.1	+	3	1869	c.1638A>G	c.(1636-1638)AGA>AGG	p.R546R	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.R548R	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	546	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		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)		GACATCGGAGAAATCACTTTG	0.408													G	57932498	A	G	57932498	2	3	275	1	0	0	0	0	0	0	0	1	17740	243	9	3		3	ZNF17	19	57932498	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	92407	57932498	1196485	1279	142344											
ZNF8	7554	broad.mit.edu	37	chr19	58806556	58806556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaagatgagaggactcAccgaagcgacagacccttca	11	11	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:58806556A>G	uc002qry.1	+	4	1512	c.1382A>G	c.(1381-1383)CAC>CGC	p.H461R	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		GAGAGGACTCACCGAAGCGAC	0.527													G	58806556	A	G	58806556	3	3	275	1	0	0	0	0	1	0	0	0	18164	159	6	3	1396	3	ZNF8	19	58806556	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	874058	58806556	322427	1280	142345											
ZNF324	25799	broad.mit.edu	37	chr19	58982184	58982184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgggatgactactagcGtcttccctgttgccggtgcc	11	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:58982184G>A	uc002qsw.1	+	4	419	c.325G>A	c.(325-327)GTC>ATC	p.V109I	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GACTACTAGCGTCTTCCCTGT	0.552													A	58982184	G	A	58982184	3	1	275	1	0	0	0	0	1	0	0	0	17841	1145	40	1	335	1	ZNF324	19	58982184	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	175628	58982184	146799	1281	142346											
ZNF446	55663	broad.mit.edu	37	chr19	58988846	58988846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatccaggcctgggtgcgCggtcagcggccaggcagtcc	17	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:58988846C>T	uc002qsz.2	+	2	378	c.261C>T	c.(259-261)CGC>CGT	p.R87R	ZNF446_uc002qta.2_Silent_p.R87R|ZNF446_uc010eur.2_Silent_p.R87R	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	87	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		CCTGGGTGCGCGGTCAGCGGC	0.652													T	58988846	C	T	58988846	2	4	275	1	0	0	0	0	0	0	0	1	17916	755	27	1		1	ZNF446	19	58988846	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6662	58988846	140137	1282	142347											
TRIM28	10155	broad.mit.edu	37	chr19	59059182	59059182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaggtgtctgacgtacAgaagcgtgtgcaagtggatg	15	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:59059182A>G	uc002qtg.1	+	6	1152	c.863A>G	c.(862-864)CAG>CGG	p.Q288R	TRIM28_uc010eut.1_Missense_Mutation_p.Q206R|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	288	RBCC domain.|Leucine zipper alpha helical coiled-coil region.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		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)		TCTGACGTACAGAAGCGTGTG	0.577													G	59059182	A	G	59059182	3	3	275	1	0	0	0	0	1	0	0	0	16499	188	7	3	885	3	TRIM28	19	59059182	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	70336	59059182	69801	1283	142348											
MZF1	7593	broad.mit.edu	37	chr19	59074613	59074613	+	Frame_Shift_Del	DEL	C	C	-													cgcccccagtgctggggcggCcccggctccggcccctgggg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr19:59074613delC	uc002qto.2	-	6	1592	c.1031delG	c.(1030-1032)GGCfs	p.G344fs	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Frame_Shift_Del_p.G344fs	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	344					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		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)		GCTGGGGCGGCCCCGGCTCCG	0.692													-	59074613	C	-	59074613	7	5	275	1	0	1	0	1	0	0	0	0	10108	739	26	0	1177	0	MZF1	19	59074613	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	15431	59074613	54370	1284	142349											
RSPO4	343637	broad.mit.edu	37	chr20	947857	947857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggccaaagtgcccggCgggcaggtgggcagacactt	18	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:947857C>T	uc002wej.2	-	3	466	c.369G>A	c.(367-369)CCG>CCA	p.P123P	RSPO4_uc002wek.2_Silent_p.P123P	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	123	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						AAGTGCCCGGCGGGCAGGTGG	0.647													T	947857	C	T	947857	2	4	275	1	0	0	0	0	0	0	0	1	13712	755	27	1		1	RSPO4	20	947857	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08		947857	62077663	1285	142350											
SIRPB2	284759	broad.mit.edu	37	chr20	1471995	1471995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgggggccgacatcGtggagcacatggcatcttct	16	10	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:1471995G>A	uc002wfg.2	-	1	239	c.11C>T	c.(10-12)ACG>ATG	p.T4M	SIRPB2_uc002wfh.3_Missense_Mutation_p.T4M|SIRPB2_uc010zpr.1_Translation_Start_Site	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	4						integral to membrane					0						GGCCGACATCGTGGAGCACAT	0.612													A	1471995	G	A	1471995	3	1	275	1	0	0	0	0	1	0	0	0	14334	1145	40	1	1037	1	SIRPB2	20	1471995	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	524138	1471995	61553525	1286	142351											
NOP56	10528	broad.mit.edu	37	chr20	2637428	2637428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacacatccagaggtgcccAcgagtgtattcggggagaag	13	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:2637428A>G	uc002wgh.2	+	10	1221	c.1168A>G	c.(1168-1170)ACG>GCG	p.T390A	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.T224A|NOP56_uc002wgm.1_Missense_Mutation_p.T137A|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	390	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						AGAGGTGCCCACGAGTGTATT	0.512													G	2637428	A	G	2637428	3	3	275	1	0	0	0	0	1	0	0	0	10539	159	6	3	1206	3	NOP56	20	2637428	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1165433	2637428	60388092	1287	142352											
PLCB1	23236	broad.mit.edu	37	chr20	8630047	8630047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttgttttcagcagatcGgaagcgagttgaaactgctt	11	8	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:8630047G>A	uc002wnb.2	+	7	548	c.545G>A	c.(544-546)CGG>CAG	p.R182Q	PLCB1_uc010zrb.1_Missense_Mutation_p.R81Q|PLCB1_uc010gbv.1_Missense_Mutation_p.R182Q|PLCB1_uc002wmz.1_Missense_Mutation_p.R182Q|PLCB1_uc002wna.2_Missense_Mutation_p.R182Q|PLCB1_uc002wnc.1_Missense_Mutation_p.R81Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	182					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			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TCAGCAGATCGGAAGCGAGTT	0.358													A	8630047	G	A	8630047	3	1	275	1	0	0	0	0	1	0	0	0	12027	1116	39	1	571	1	PLCB1	20	8630047	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5992619	8630047	54395473	1288	142353											
JAG1	182	broad.mit.edu	37	chr20	10620245	10620245	+	Frame_Shift_Del	DEL	G	G	-													tgttttgtcggcgtgccgttGgggggcttctcttctctgtc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:10620244_10620244TG>T	uc002wnw.2	-	25	4075	c.3559_3559CA>A	c.(3559-3561)aacfs	p.N1187fs		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1187					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|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						GGCGTGCCGTTGGGGGGCTTC	0.517									Alagille Syndrome				-	10620245	G	-	10620245	7	5	275	1	0	1	0	1	0	0	0	0	7934	1335	47	0	102	0	JAG1	20	10620245	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	1990198	10620245	52405275	1289	142354											
TASP1	55617	broad.mit.edu	37	chr20	13514762	13514762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacaaccacagcgcctacCgtgtccaaagtgcctgagtc	8	16	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:13514762C>T	uc002woi.2	-	9	819	c.702G>A	c.(700-702)ACG>ACA	p.T234T	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Silent_p.T211T|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	234		Nucleophile.		T->A: Complete loss of enzymatic activity; no intramolecular processing.	asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						CAGCGCCTACCGTGTCCAAAG	0.507													T	13514762	C	T	13514762	2	4	275	1	0	0	0	0	0	0	0	1	15586	639	23	1		1	TASP1	20	13514762	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2894517	13514762	49510758	1290	142355											
C20orf26	26074	broad.mit.edu	37	chr20	20037346	20037346	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaagttgttcattgcCgaagaacagaatcacaggat	11	6	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:20037346C>T	uc002wru.2	+	2	125	c.49C>T	c.(49-51)CGA>TGA	p.R17*	C20orf26_uc010gcw.1_Intron|C20orf26_uc010zse.1_Nonsense_Mutation_p.R17*|C20orf26_uc010zsf.1_Nonsense_Mutation_p.R17*|CRNKL1_uc002wrs.2_5'Flank|CRNKL1_uc002wrt.1_5'Flank	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	17										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TGTTCATTGCCGAAGAACAGA	0.353													T	20037346	C	T	20037346	4	4	275	1	0	0	0	0	0	1	0	0	2106	644	23	1	51	1	C20orf26	20	20037346	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	6522584	20037346	42988174	1291	142356											
C20orf26	26074	broad.mit.edu	37	chr20	20232281	20232281	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgcactgatgtcactgtgCtcctgggttaatgtcgtggt	12	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:20232281C>A	uc002wru.2	+	20	2278	c.2202C>A	c.(2200-2202)TGC>TGA	p.C734*	C20orf26_uc010zse.1_Nonsense_Mutation_p.C714*|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Nonsense_Mutation_p.C90*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	734										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		TGTCACTGTGCTCCTGGGTTA	0.502													A	20232281	C	A	20232281	4	1	275	1	0	0	0	0	0	1	0	0	2106	805	28	5	2308	5	C20orf26	20	20232281	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	194935	20232281	42793239	1292	142357											
PAX1	5075	broad.mit.edu	37	chr20	21690007	21690007	+	Frame_Shift_Del	DEL	C	C	-													cgcaaggtcctcctctggcgCcccccggggccggcgtagct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:21690007delC	uc002wsj.2	+	4	1261	c.1207delC	c.(1207-1209)CCCfs	p.P403fs	PAX1_uc010zsl.1_Frame_Shift_Del_p.P403fs|PAX1_uc010zsm.1_Frame_Shift_Del_p.P379fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	403					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						TCCTCTGGCGCCCCCCGGGGC	0.741													-	21690007	C	-	21690007	7	5	275	1	0	1	0	1	0	0	0	0	11478	739	26	0	1221	0	PAX1	20	21690007	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	1457726	21690007	41335513	1293	142358											
GZF1	64412	broad.mit.edu	37	chr20	23346149	23346149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagcagcgagcgccatTtcccatgcgagctgtgcggg	14	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:23346149T>C	uc010gdb.2	+	3	1303	c.1129T>C	c.(1129-1131)TTC>CTC	p.F377L	GZF1_uc002wsy.2_Missense_Mutation_p.F377L|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.F377L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	377	C2H2-type 3.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CGAGCGCCATTTCCCATGCGA	0.667													C	23346149	T	C	23346149	3	2	275	1	0	0	0	0	1	0	0	0	6914	1841	64	3	1131	3	GZF1	20	23346149	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1656142	23346149	39679371	1294	142359											
CSTL1	128817	broad.mit.edu	37	chr20	23421091	23421091	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaacgacacctacttatatCgagtccagaggctaattcga	8	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:23421091C>T	uc002wte.2	+	2	433	c.187C>T	c.(187-189)CGA>TGA	p.R63*	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	63						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CTACTTATATCGAGTCCAGAG	0.463													T	23421091	C	T	23421091	4	4	275	1	0	0	0	0	0	1	0	0	3987	876	31	1	189	1	CSTL1	20	23421091	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	74942	23421091	39604429	1295	142360											
CST1	1469	broad.mit.edu	37	chr20	23729754	23729754	+	Frame_Shift_Del	DEL	C	C	-													tacgtcgaagaagtaattcaCccccccaacggtctgcacac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:23729753_23729753AC>A	uc002wtp.3	-	1	313	c.242_242GT>T	c.(241-243)gtgfs	p.V81fs		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAAC	0.552													-	23729754	C	-	23729754	7	5	275	1	0	1	0	1	0	0	0	0	3970	507	18	0	192	0	CST1	20	23729754	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	308663	23729754	39295766	1296	142361											
XKR7	343702	broad.mit.edu	37	chr20	30584709	30584709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctgctggagaacgccGcgctcaccggcttctggtac	12	15	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:30584709G>A	uc002wxe.2	+	3	1363	c.1189G>A	c.(1189-1191)GCG>ACG	p.A397T		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	397	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGAACGCCGCGCTCACCGG	0.597													A	30584709	G	A	30584709	3	1	275	1	0	0	0	0	1	0	0	0	17433	1087	38	1	1199	1	XKR7	20	30584709	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6854955	30584709	32440811	1297	142362											
C20orf186	149954	broad.mit.edu	37	chr20	31672738	31672738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccctcgggtgtccgtgCggctcctgcccggcgtgggt	15	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:31672738C>T	uc010zue.1	+	4	733	c.718C>T	c.(718-720)CGG>TGG	p.R240W		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	240						cytoplasm|extracellular region	lipid binding				0						GGTGTCCGTGCGGCTCCTGCC	0.672													T	31672738	C	T	31672738	3	4	275	1	0	0	0	0	1	0	0	0	2098	759	27	1	732	1	C20orf186	20	31672738	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1088029	31672738	31352782	1298	142363											
ACSS2	55902	broad.mit.edu	37	chr20	33502206	33502206	+	Frame_Shift_Del	DEL	C	C	-													gggtgactccaccagccagtCccccccaattaagaggtcat							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:33502205_33502205TC>T	uc010gey.2	+	6	920	c.799_799TC>T	c.(799-801)tccfs	p.S267fs	ACSS2_uc002xbc.2_Frame_Shift_Del_p.S172fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Del_p.S267fs|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	267					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCAGCCAGTCCCCCCCAAT	0.537													-	33502206	C	-	33502206	7	5	275	1	0	1	0	1	0	0	0	0	189	855	30	0	826	0	ACSS2	20	33502206	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	1829468	33502206	29523314	1299	142364											
MYH7B	57644	broad.mit.edu	37	chr20	33582038	33582038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttttcaagatgaagcCgctgctgcgctcggcgcagg	13	12	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:33582038C>T	uc002xbi.1	+	25	2752	c.2660C>T	c.(2659-2661)CCG>CTG	p.P887L		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	845						membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGATGAAGCCGCTGCTGCGC	0.652													T	33582038	C	T	33582038	3	4	275	1	0	0	0	0	1	0	0	0	10040	652	23	1	2758	1	MYH7B	20	33582038	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	79832	33582038	29443482	1300	142365											
PROCR	10544	broad.mit.edu	37	chr20	33764042	33764042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagagcccatgtcttcttcGaagtggctgtgaatgggagc	13	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:33764042G>A	uc002xbt.2	+	3	578	c.394G>A	c.(394-396)GAA>AAA	p.E132K	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.E169K	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	132	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TGTCTTCTTCGAAGTGGCTGT	0.602													A	33764042	G	A	33764042	3	1	275	1	0	0	0	0	1	0	0	0	12547	1059	37	1	404	1	PROCR	20	33764042	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	182004	33764042	29261478	1301	142366											
CEP250	11190	broad.mit.edu	37	chr20	34090421	34090421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggctctgcaagagcaGggcgaactgaaggtggccca	15	12	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:34090421G>T	uc002xcm.2	+	31	4895	c.4224G>T	c.(4222-4224)CAG>CAT	p.Q1408H	CEP250_uc010zve.1_Missense_Mutation_p.Q776H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1408	Gln/Glu-rich.|Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGCAAGAGCAGGGCGAACTGA	0.567													T	34090421	G	T	34090421	3	4	275	1	0	0	0	0	1	0	0	0	3252	991	35	5	4330	5	CEP250	20	34090421	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	326379	34090421	28935099	1302	142367											
CEP250	11190	broad.mit.edu	37	chr20	34091721	34091721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaaggaaaaggcagacGccctccagggagctctggag	17	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:34091721G>A	uc002xcm.2	+	31	6195	c.5524G>A	c.(5524-5526)GCC>ACC	p.A1842T	CEP250_uc010zve.1_Missense_Mutation_p.A1210T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1842	Gln/Glu-rich.|Potential.				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			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAAGGCAGACGCCCTCCAGGG	0.602													A	34091721	G	A	34091721	3	1	275	1	0	0	0	0	1	0	0	0	3252	1087	38	1	5630	1	CEP250	20	34091721	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1300	34091721	28933799	1303	142368											
TGIF2	60436	broad.mit.edu	37	chr20	35207307	35207307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacttgcaccgctacaacGcctacccctcagagcaggag	9	15	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:35207307G>A	uc002xfn.2	+	2	303	c.130G>A	c.(130-132)GCC>ACC	p.A44T	C20orf24_uc002xfo.2_Missense_Mutation_p.A44T	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	44	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)|skin(1)	2	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCGCTACAACGCCTACCCCTC	0.552													A	35207307	G	A	35207307	3	1	275	1	0	0	0	0	1	0	0	0	15823	1087	38	1	132	1	TGIF2	20	35207307	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1115586	35207307	27818213	1304	142369											
C20orf117	140710	broad.mit.edu	37	chr20	35443741	35443741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggtgtccctggggccctCgctgttgtcgggggcctcat	15	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:35443741C>T	uc002xgd.1	-	5	1717	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	464											0		Myeloproliferative disorder(115;0.00874)				CTGGGGCCCTCGCTGTTGTCG	0.632													T	35443741	C	T	35443741	3	4	275	1	0	0	0	0	1	0	0	0	2083	893	31	1	2987	1	C20orf117	20	35443741	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	236434	35443741	27581779	1305	142370											
KIAA0406	9675	broad.mit.edu	37	chr20	36640099	36640099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcagagccagatgaCgcagatttaaagagatccca	12	8	0	5	rs141770247	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:36640099C>T	uc002xhl.2	-	3	2329	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	KIAA0406_uc002xhm.2_Missense_Mutation_p.R707H	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	707							binding				0		Myeloproliferative disorder(115;0.00874)				AGCCAGATGACGCAGATTTAA	0.483													T	36640099	C	T	36640099	3	4	275	1	0	0	0	0	1	0	0	0	8173	536	19	1	1177	1	KIAA0406	20	36640099	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1196358	36640099	26385421	1306	142371											
KIAA1755	85449	broad.mit.edu	37	chr20	36850996	36850996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctcaggcacctggtagCctcctgccagcgtagggagg	14	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:36850996C>T	uc002xhy.1	-	10	2544	c.2272G>A	c.(2272-2274)GCT>ACT	p.A758T	KIAA1755_uc002xhx.1_Missense_Mutation_p.A36T	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	758										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				CACCTGGTAGCCTCCTGCCAG	0.647											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	36850996	C	T	36850996	3	4	275	1	0	0	0	0	1	0	0	0	8257	739	26	2	1350	2	KIAA1755	20	36850996	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	210897	36850996	26174524	1307	142372											
RALGAPB	57148	broad.mit.edu	37	chr20	37168453	37168453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactcaggagaccggaagcGagccatcagttctgtgtgca	13	10	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:37168453G>A	uc002xiw.2	+	17	2671	c.2414G>A	c.(2413-2415)CGA>CAA	p.R805Q	RALGAPB_uc002xix.2_Missense_Mutation_p.R801Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.R805Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.R583Q|RALGAPB_uc002xja.1_Missense_Mutation_p.R532Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	805					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						GACCGGAAGCGAGCCATCAGT	0.448													A	37168453	G	A	37168453	3	1	275	1	0	0	0	0	1	0	0	0	13015	1058	37	1	2476	1	RALGAPB	20	37168453	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	317457	37168453	25857067	1308	142373											
DHX35	60625	broad.mit.edu	37	chr20	37632537	37632537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttgaaagggtgtcacGcagtgtcagaaaggtgagac	15	5	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:37632537G>A	uc002xjh.2	+	11	1009	c.998G>A	c.(997-999)CGC>CAC	p.R333H	DHX35_uc010zwa.1_Missense_Mutation_p.R178H|DHX35_uc010zwb.1_Missense_Mutation_p.R178H|DHX35_uc010zwc.1_Missense_Mutation_p.R302H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	333	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGGGTGTCACGCAGTGTCAGA	0.468													A	37632537	G	A	37632537	3	1	275	1	0	0	0	0	1	0	0	0	4508	1087	38	1	1040	1	DHX35	20	37632537	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	464084	37632537	25392983	1309	142374											
CHD6	84181	broad.mit.edu	37	chr20	40043836	40043836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatacccaccaagattcccGcctgaagtgtctgctccttc	6	16	1	2	rs146226470		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:40043836G>A	uc002xka.1	-	34	7107	c.6929C>T	c.(6928-6930)GCG>GTG	p.A2310V	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2310					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CAAGATTCCCGCCTGAAGTGT	0.458													A	40043836	G	A	40043836	3	1	275	1	0	0	0	0	1	0	0	0	3329	1087	38	1	1234	1	CHD6	20	40043836	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2411299	40043836	22981684	1310	142375											
MYBL2	4605	broad.mit.edu	37	chr20	42328684	42328684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggacttgatcgagtcGgtatgttggtcacaacactt	11	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:42328684G>A	uc002xlb.1	+	7	1166	c.951G>A	c.(949-951)TCG>TCA	p.S317S	MYBL2_uc010zwj.1_Silent_p.S293S|MYBL2_uc002xla.1_Silent_p.S317S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	317						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGATCGAGTCGGTATGTTGGT	0.552													A	42328684	G	A	42328684	2	1	275	1	0	0	0	0	0	0	0	1	10010	1130	39	1		1	MYBL2	20	42328684	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2284848	42328684	20696836	1311	142376											
KCNK15	60598	broad.mit.edu	37	chr20	43378801	43378801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgccgggtacggactcCggcaaggtcttctgcatgtt	14	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:43378801C>T	uc002xmr.2	+	2	379	c.315C>T	c.(313-315)TCC>TCT	p.S105S		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	105						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				GTACGGACTCCGGCAAGGTCT	0.687													T	43378801	C	T	43378801	2	4	275	1	0	0	0	0	0	0	0	1	8062	639	23	1		1	KCNK15	20	43378801	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1050117	43378801	19646719	1312	142377											
RBPJL	11317	broad.mit.edu	37	chr20	43945492	43945492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggaatacagcgtgcggCcgggtcaccccggcgtcccc	13	19	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:43945492C>T	uc002xns.2	+	12	1519	c.1447C>T	c.(1447-1449)CCG>TCG	p.P483S	RBPJL_uc002xnt.2_3'UTR	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	483	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CAGCGTGCGGCCGGGTCACCC	0.662													T	43945492	C	T	43945492	3	4	275	1	0	0	0	0	1	0	0	0	13162	739	26	2	1493	2	RBPJL	20	43945492	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	566691	43945492	19080028	1313	142378											
RBPJL	11317	broad.mit.edu	37	chr20	43945567	43945567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccatcaggagttcacgCgcaccaacttccacctcttc	6	17	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:43945567C>T	uc002xns.2	+	12	1594	c.1522C>T	c.(1522-1524)CGC>TGC	p.R508C	RBPJL_uc002xnt.2_3'UTR	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	508	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGAGTTCACGCGCACCAACTT	0.711													T	43945567	C	T	43945567	3	4	275	1	0	0	0	0	1	0	0	0	13162	768	27	1	1568	1	RBPJL	20	43945567	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	75	43945567	19079953	1314	142379											
ZSWIM3	140831	broad.mit.edu	37	chr20	44507168	44507168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgggctggcccctcccaGccatctgagctctttcagca	9	16	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:44507168G>A	uc002xqd.2	+	2	2174	c.1971G>A	c.(1969-1971)CAG>CAA	p.Q657Q	ZSWIM3_uc010zxg.1_Silent_p.Q651Q|ZSWIM1_uc010zxh.1_5'Flank|ZSWIM1_uc010ghi.2_5'Flank	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	657							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GCCCCTCCCAGCCATCTGAGC	0.592													A	44507168	G	A	44507168	2	1	275	1	0	0	0	0	0	0	0	1	18239	962	34	2		2	ZSWIM3	20	44507168	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	561601	44507168	18518352	1315	142380											
MMP9	4318	broad.mit.edu	37	chr20	44641172	44641172	+	Frame_Shift_Del	DEL	G	G	-													cctatgtaccgcttcactgaGgggccccccttgcataagga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:44641171_44641171AG>A	uc002xqz.3	+	7	1299	c.1280_1280AG>A	c.(1279-1281)gagfs	p.E427fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	427					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCTTCACTGAGGGGCCCCCC	0.622													-	44641172	G	-	44641172	7	5	275	1	0	1	0	1	0	0	0	0	9669	991	35	0	1311	0	MMP9	20	44641172	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	134004	44641172	18384348	1316	142381											
SLC13A3	64849	broad.mit.edu	37	chr20	45192184	45192184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggtgcactctcaggcGgatggcctgggccaggaaaa	17	10	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:45192184G>A	uc002xsf.1	-	12	1539	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	SLC13A3_uc010ghn.1_Missense_Mutation_p.R470C|SLC13A3_uc010zxw.1_Missense_Mutation_p.R451C|SLC13A3_uc002xsg.1_Missense_Mutation_p.R454C|SLC13A3_uc010gho.1_Missense_Mutation_p.R419C|SLC13A3_uc010zxx.1_Missense_Mutation_p.R403C|SLC13A3_uc002xse.1_5'UTR|SLC13A3_uc010ghm.1_Missense_Mutation_p.R88C|SLC13A3_uc010zxv.1_Missense_Mutation_p.R86C	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	501	Extracellular (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACTCTCAGGCGGATGGCCTGG	0.512													A	45192184	G	A	45192184	3	1	275	1	0	0	0	0	1	0	0	0	14393	1116	39	1	315	1	SLC13A3	20	45192184	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	551012	45192184	17833336	1317	142382											
TP53RK	112858	broad.mit.edu	37	chr20	45315714	45315714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattcgagccaaaacctgcCcaattgtcttggctaagttg	9	11	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:45315714C>T	uc002xsk.2	-	2	663	c.440G>A	c.(439-441)GGG>GAG	p.G147E	SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	p53-related protein kinase	147	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Myeloproliferative disorder(115;0.0122)				CAAAACCTGCCCAATTGTCTT	0.478													T	45315714	C	T	45315714	3	4	275	1	0	0	0	0	1	0	0	0	16387	623	22	4	325	4	TP53RK	20	45315714	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	123530	45315714	17709806	1318	142383											
PREX1	57580	broad.mit.edu	37	chr20	47244406	47244406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcggcctcacctgcttcCgcatgatgtccgtggcctgc	11	16	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47244406C>T	uc002xtw.1	-	38	4885	c.4862G>A	c.(4861-4863)CGG>CAG	p.R1621Q	PREX1_uc002xtv.1_Missense_Mutation_p.R918Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1621					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CACCTGCTTCCGCATGATGTC	0.667													T	47244406	C	T	47244406	3	4	275	1	0	0	0	0	1	0	0	0	12476	652	23	1	129	1	PREX1	20	47244406	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1928692	47244406	15781114	1319	142384											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605030	47605030	+	Splice_Site	DEL	A	A	-													aattttttttaattacaggtAaaaaataaaatgacgaaaga							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47605029_47605029TA>T	uc002xtx.4	+	18	2514	c.2362_splice	c.e18-1	p.V788_splice	ARFGEF2_uc010zyf.2_Splice_Site_p.V81_splice	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	788					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	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)			TAATTACAGGTAAAAAATAAA	0.294													-	47605030	A	-	47605030	8	5	275	1	0	1	0	1	0	0	1	0	853	349	13	0	2434	0	ARFGEF2	20	47605030	Splice_Site	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	360624	47605030	15420490	1320	142385											
ZNFX1	57169	broad.mit.edu	37	chr20	47864399	47864399	+	Frame_Shift_Del	DEL	T	T	-													tctcttctaagacatgcatcTttttcagggaatcccacagg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47864398_47864398CT>C	uc002xui.3	-	13	5410	c.5163_5163AG>G	c.(5161-5163)aagfs	p.K1721fs		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1721							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)			AGACATGCATCTTTTTCAGGG	0.498													-	47864399	T	-	47864399	7	5	275	1	0	1	0	1	0	0	0	0	18202	1609	56	0	598	0	ZNFX1	20	47864399	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	259369	47864399	15161121	1321	142386											
ZNFX1	57169	broad.mit.edu	37	chr20	47865967	47865967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggttgctccgcactagCgagaggaggatgatgtcatt	13	8	2	2	rs146287599		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47865967C>T	uc002xui.2	-	14	3841	c.3594G>A	c.(3592-3594)TCG>TCA	p.S1198S		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1198							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCGCACTAGCGAGAGGAGGA	0.532													T	47865967	C	T	47865967	2	4	275	1	0	0	0	0	0	0	0	1	18202	755	27	1		1	ZNFX1	20	47865967	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1568	47865967	15159553	1322	142387											
ZNFX1	57169	broad.mit.edu	37	chr20	47887288	47887288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagaaatgatattggggCgaaggaagggcctctcatcc	12	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:47887288C>T	uc002xui.2	-	3	1308	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	354							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GATATTGGGGCGAAGGAAGGG	0.502													T	47887288	C	T	47887288	3	4	275	1	0	0	0	0	1	0	0	0	18202	768	27	1	4743	1	ZNFX1	20	47887288	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	21321	47887288	15138232	1323	142388											
PTGIS	5740	broad.mit.edu	37	chr20	48166701	48166701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaccaggggatgctgcccaGgtccaggggaggctcaccag	15	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:48166701G>T	uc002xut.2	-	2	154	c.100C>A	c.(100-102)CTG>ATG	p.L34M	PTGIS_uc010zyi.1_Translation_Start_Site	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	34					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			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ATGCTGCCCAGGTCCAGGGGA	0.532													T	48166701	G	T	48166701	3	4	275	1	0	0	0	0	1	0	0	0	12752	991	35	5	1438	5	PTGIS	20	48166701	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	279413	48166701	14858819	1324	142389											
SPATA2	9825	broad.mit.edu	37	chr20	48522803	48522803	+	Frame_Shift_Del	DEL	G	G	-													aagcacatccgggctgccgtGgggggagctggccatggtca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:48522802_48522802TG>T	uc010gie.3	-	2	1267	c.917_917CA>A	c.(916-918)cacfs	p.H306fs	SPATA2_uc002xuw.3_Frame_Shift_Del_p.H306fs|SPATA2_uc010zyn.2_Frame_Shift_Del_p.H169fs	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	306					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)			CGGGCTGCCGTGGGGGGAGCT	0.642													-	48522803	G	-	48522803	7	5	275	1	0	1	0	1	0	0	0	0	15004	1348	47	0	650	0	SPATA2	20	48522803	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	356102	48522803	14502717	1325	142390											
NFATC2	4773	broad.mit.edu	37	chr20	50139969	50139969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgaggggctccgggagcGctggggtgaggctccgggcg	23	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:50139969G>A	uc002xwd.2	-	2	1031	c.811C>T	c.(811-813)CGC>TGC	p.R271C	NFATC2_uc002xwc.2_Missense_Mutation_p.R271C|NFATC2_uc010zyv.1_Missense_Mutation_p.R52C|NFATC2_uc010zyw.1_Missense_Mutation_p.R52C|NFATC2_uc010zyx.1_Missense_Mutation_p.R251C|NFATC2_uc010zyy.1_Missense_Mutation_p.R52C|NFATC2_uc010zyz.1_Missense_Mutation_p.R52C|NFATC2_uc002xwe.2_Missense_Mutation_p.R251C	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	271	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			ovary(2)	2	Hepatocellular(150;0.248)					CTCCGGGAGCGCTGGGGTGAG	0.731													A	50139969	G	A	50139969	3	1	275	1	0	0	0	0	1	0	0	0	10362	1087	38	1	2050	1	NFATC2	20	50139969	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1617166	50139969	12885551	1326	142391											
ATP9A	10079	broad.mit.edu	37	chr20	50241845	50241845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccaggctctcgatcacCgtggccactttgagggagcg	12	13	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:50241845C>T	uc002xwg.1	-	18	1902	c.1902G>A	c.(1900-1902)ACG>ACA	p.T634T	ATP9A_uc010gih.1_Silent_p.T498T|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	634	Cytoplasmic (Potential).				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			ovary(4)	4						TCTCGATCACCGTGGCCACTT	0.632													T	50241845	C	T	50241845	2	4	275	1	0	0	0	0	0	0	0	1	1198	639	23	1		1	ATP9A	20	50241845	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	101876	50241845	12783675	1327	142392											
SALL4	57167	broad.mit.edu	37	chr20	50401022	50401022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatctcattggtcttcaCggccagaccgccattgagca	10	12	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:50401022C>T	uc002xwh.3	-	4	3045	c.2944G>A	c.(2944-2946)GTG>ATG	p.V982M	SALL4_uc010gii.2_Missense_Mutation_p.V545M|SALL4_uc002xwi.3_Missense_Mutation_p.V205M	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	982					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTGGTCTTCACGGCCAGACCG	0.547													T	50401022	C	T	50401022	3	4	275	1	0	0	0	0	1	0	0	0	13813	536	19	1	221	1	SALL4	20	50401022	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	159177	50401022	12624498	1328	142393											
CTCFL	140690	broad.mit.edu	37	chr20	56098859	56098859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgctggatactaatggCcacacactgctgcaggctct	9	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:56098859C>T	uc010gix.1	-	1	1065	c.403G>A	c.(403-405)GCC>ACC	p.A135T	CTCFL_uc010giw.1_Missense_Mutation_p.A135T|CTCFL_uc002xym.2_Missense_Mutation_p.A135T|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.A135T|CTCFL_uc010gjb.1_Missense_Mutation_p.A135T|CTCFL_uc010gjc.1_Missense_Mutation_p.A135T|CTCFL_uc010gjd.1_Missense_Mutation_p.A135T|CTCFL_uc010gje.2_Missense_Mutation_p.A135T|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.A135T|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.A135T|CTCFL_uc010gjk.1_Missense_Mutation_p.A135T|CTCFL_uc010gjl.1_Missense_Mutation_p.A135T	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	135					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			ovary(2)|large_intestine(1)|skin(1)	4	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)			ATACTAATGGCCACACACTGC	0.577													T	56098859	C	T	56098859	3	4	275	1	0	0	0	0	1	0	0	0	4001	739	26	2	1628	2	CTCFL	20	56098859	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5697837	56098859	6926661	1329	142394											
NPEPL1	79716	broad.mit.edu	37	chr20	57269566	57269566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgctcaggtgcctctcGgcgcttggagaagaagacgg	14	13	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:57269566G>A	uc010zzs.1	+	3	520	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	NPEPL1_uc010zzr.1_Missense_Mutation_p.R94Q|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R114Q|NPEPL1_uc002xzp.2_Missense_Mutation_p.R30Q	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	142					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGTGCCTCTCGGCGCTTGGAG	0.632													A	57269566	G	A	57269566	3	1	275	1	0	0	0	0	1	0	0	0	10574	1116	39	1	281	1	NPEPL1	20	57269566	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1170707	57269566	5755954	1330	142395											
GNAS	2778	broad.mit.edu	37	chr20	57429164	57429164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtcccaggcgccatcGgcagcccatcccaagaggct	12	16	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:57429164G>A	uc002xzw.2	+	1	1129	c.844G>A	c.(844-846)GGC>AGC	p.G282S	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGCGCCATCGGCAGCCCATC	0.692			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57429164	G	A	57429164	3	1	275	1	0	0	0	0	1	0	0	0	6510	1116	39	1	1588	1	GNAS	20	57429164	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	159598	57429164	5596356	1331	142396											
TUBB1	81027	broad.mit.edu	37	chr20	57599419	57599419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggccgctacctcacaGtggcctgcattttccggggc	13	15	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:57599419G>A	uc002yak.2	+	4	1206	c.937G>A	c.(937-939)GTG>ATG	p.V313M		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	313					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTACCTCACAGTGGCCTGCAT	0.612													A	57599419	G	A	57599419	3	1	275	1	0	0	0	0	1	0	0	0	16750	1029	36	4	951	4	TUBB1	20	57599419	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	170255	57599419	5426101	1332	142397											
CDH4	1002	broad.mit.edu	37	chr20	60503335	60503335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctgctgcccaaggaggCgcagatctgcgagaagccca	14	12	1	3	rs138803497		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:60503335C>T	uc002ybn.1	+	12	1873	c.1859C>T	c.(1858-1860)GCG>GTG	p.A620V	CDH4_uc002ybp.1_Missense_Mutation_p.A546V	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	620	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCAAGGAGGCGCAGATCTGC	0.622													T	60503335	C	T	60503335	3	4	275	1	0	0	0	0	1	0	0	0	3112	768	27	1	1905	1	CDH4	20	60503335	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2903916	60503335	2522185	1333	142398											
LAMA5	3911	broad.mit.edu	37	chr20	60913399	60913399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtcacagcggtcatcggCcactccagggctggaacact	13	13	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:60913399C>T	uc002ycq.2	-	13	1712	c.1645G>A	c.(1645-1647)GCC>ACC	p.A549T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	549	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			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTCATCGGCCACTCCAGGG	0.647													T	60913399	C	T	60913399	3	4	275	1	0	0	0	0	1	0	0	0	8609	739	26	2	9714	2	LAMA5	20	60913399	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	410064	60913399	2112121	1334	142399											
DIDO1	11083	broad.mit.edu	37	chr20	61513486	61513487	+	Frame_Shift_Ins	INS	-	-	T													gtttgagggatgacagcactINStttagcaccggtggttctgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:61513485_61513486C>CT	uc002ydr.2	-	15	4134_4135	c.3822_3823G>AG	c.(3820-3825)aaagtgfs	p.K1274fs	DIDO1_uc002yds.2_Frame_Shift_Ins_p.K1274fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1274	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)					GATGACAGCACTTTTAGCACCG	0.649													T	61513487	-	T	61513486	7	5	275	1	0	1	1	0	0	0	0	0	4522	1606	56	0	2904	0	DIDO1	20	61513486	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	600087	61513486	1512034	1335	142400											
CHRNA4	1137	broad.mit.edu	37	chr20	61981063	61981063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtactggacgccctccaccGcccgggtcagggccggcgac	14	17	1	0	rs76895198		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:61981063G>A	uc002yes.2	-	5	1878	c.1700C>T	c.(1699-1701)GCG>GTG	p.A567V	CHRNA4_uc002yet.1_Missense_Mutation_p.A391V|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.A496V|CHRNA4_uc002yev.1_Missense_Mutation_p.A391V|CHRNA4_uc010gkf.1_Missense_Mutation_p.A391V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	567	Cytoplasmic (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCCCTCCACCGCCCGGGTCAG	0.672													A	61981063	G	A	61981063	3	1	275	1	0	0	0	0	1	0	0	0	3385	1087	38	1	191	1	CHRNA4	20	61981063	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	467577	61981063	1044457	1336	142401											
KCNQ2	3785	broad.mit.edu	37	chr20	62038258	62038258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggacgggatggagatggaCgtgtcgctgtcccgcaggtt	17	9	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62038258C>T	uc002yey.1	-	17	2535	c.2358G>A	c.(2356-2358)ACG>ACA	p.T786T	KCNQ2_uc002yez.1_Silent_p.T755T|KCNQ2_uc002yfa.1_Silent_p.T768T|KCNQ2_uc002yfb.1_Silent_p.T758T	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	786	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGAGATGGACGTGTCGCTGT	0.672													T	62038258	C	T	62038258	2	4	275	1	0	0	0	0	0	0	0	1	8083	523	19	1		1	KCNQ2	20	62038258	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	57195	62038258	987262	1337	142402											
KCNQ2	3785	broad.mit.edu	37	chr20	62038661	62038661	+	Frame_Shift_Del	DEL	G	G	-													agtaggcctcggtctctgtcGgggggatgcccatccgctgc					rs118192242		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62038660_62038660CG>C	uc002yey.1	-	16	2133	c.1956_1956CG>G	c.(1954-1956)ccgfs	p.P652fs	KCNQ2_uc002yez.1_Frame_Shift_Del_p.P621fs|KCNQ2_uc002yfa.1_Frame_Shift_Del_p.P634fs|KCNQ2_uc002yfb.1_Frame_Shift_Del_p.P624fs	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	652					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P651S(1)		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)	CGGTCTCTGTCGGGGGGATGC	0.637													-	62038661	G	-	62038661	7	5	275	1	0	1	0	1	0	0	0	0	8083	1116	39	0	667	0	KCNQ2	20	62038661	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08	403	62038661	986859	1338	142403											
MYT1	4661	broad.mit.edu	37	chr20	62853330	62853330	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	attttgaggagcggaagtatCcgggggaagtcaccctgacc	14	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62853330C>G	uc002yii.2	+	14	2690	c.2326C>G	c.(2326-2328)CCG>GCG	p.P776A	MYT1_uc002yih.2_Missense_Mutation_p.P478A|MYT1_uc002yij.2_Missense_Mutation_p.P435A	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	776					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCGGAAGTATCCGGGGGAAGT	0.498													G	62853330	C	G	62853330	3	3	275	1	0	0	0	0	1	0	0	0	10106	855	30	5	2372	5	MYT1	20	62853330	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	814669	62853330	172190	1339	142404											
MYT1	4661	broad.mit.edu	37	chr20	62863600	62863600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatccggctgcccactggCcgcccgcaggcagaaggaag	14	16	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62863600C>T	uc002yii.2	+	19	3123	c.2759C>T	c.(2758-2760)GCC>GTC	p.A920V	MYT1_uc002yij.2_Missense_Mutation_p.A579V	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	920					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGCCCACTGGCCGCCCGCAGG	0.647													T	62863600	C	T	62863600	3	4	275	1	0	0	0	0	1	0	0	0	10106	739	26	2	2825	2	MYT1	20	62863600	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	10270	62863600	161920	1340	142405											
PCMTD2	55251	broad.mit.edu	37	chr20	62904883	62904883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagtgaacttcctacGccagaaggtcctgagcctcc	8	18	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr20:62904883G>A	uc002yil.3	+	6	1216	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H	PCMTD2_uc002yim.3_Missense_Mutation_p.R312H	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	339						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACTTCCTACGCCAGAAGGTC	0.493													A	62904883	G	A	62904883	3	1	275	1	0	0	0	0	1	0	0	0	11587	1087	38	1	1034	1	PCMTD2	20	62904883	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	41283	62904883	120637	1341	142406											
TMPRSS15	5651	broad.mit.edu	37	chr21	19744529	19744529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacattttattgtcttcGtcagaaccatctggacagtt	6	11	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:19744529G>A	uc002ykw.2	-	6	676	c.645C>T	c.(643-645)GAC>GAT	p.D215D		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	215	Extracellular (Potential).|LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TATTGTCTTCGTCAGAACCAT	0.373													A	19744529	G	A	19744529	2	1	275	1	0	0	0	0	0	0	0	1	16243	1136	40	1		1	TMPRSS15	21	19744529	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		19744529	28385366	1342	142407											
CCT8	10694	broad.mit.edu	37	chr21	30433672	30433672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagttttctgccagtgCgcggggaatagcttcaaatg	12	9	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:30433672C>T	uc002ynb.2	-	13	1450	c.1351G>A	c.(1351-1353)GCA>ACA	p.A451T	CCT8_uc002ymz.2_Missense_Mutation_p.A67T|CCT8_uc011acp.1_Missense_Mutation_p.A432T|CCT8_uc002yna.2_Missense_Mutation_p.A400T|CCT8_uc002ync.2_Missense_Mutation_p.A450T|CCT8_uc010glm.2_Missense_Mutation_p.A392T|CCT8_uc011acq.1_Missense_Mutation_p.A378T	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	451					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TCTGCCAGTGCGCGGGGAATA	0.368													T	30433672	C	T	30433672	3	4	275	1	0	0	0	0	1	0	0	0	2960	768	27	1	307	1	CCT8	21	30433672	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	10689143	30433672	17696223	1343	142408											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802859	31802859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatctctaggctttcggtCcagcagctgtcgctcccagg	12	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:31802859C>T	uc011acw.1	+	1	266	c.266C>T	c.(265-267)TCC>TTC	p.S89F		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	89						intermediate filament					0						GGCTTTCGGTCCAGCAGCTGT	0.572													T	31802859	C	T	31802859	3	4	275	1	0	0	0	0	1	0	0	0	8525	855	30	4	268	4	KRTAP13-4	21	31802859	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1369187	31802859	16327036	1344	142409											
GCFC1	94104	broad.mit.edu	37	chr21	34134492	34134492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtcatcttcatcatcActggcatcattctcatcttc	3	14	9	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:34134492A>G	uc002yqn.2	-	4	976	c.786T>C	c.(784-786)AGT>AGC	p.S262S	GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.S262S|GCFC1_uc002yqr.2_Silent_p.S262S	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	262						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						CTTCATCATCACTGGCATCAT	0.408													G	34134492	A	G	34134492	2	3	275	1	0	0	0	0	0	0	0	1	6289	156	6	3		3	GCFC1	21	34134492	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2331633	34134492	13995403	1345	142410											
IFNAR2	3455	broad.mit.edu	37	chr21	34655525	34655526	+	Frame_Shift_Del	DEL	TG	TG	-													gggaatggagtgagcctgtcTgtgagcaaacaacccatgac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:34655524_34655525CTG>C	uc002yrl.1	+	3	1041_1042	c.630_631CTG>C	c.(628-633)gtctgtfs	p.V210fs	IFNAR2_uc002yri.1_Frame_Shift_Del_p.V161fs|IFNAR2_uc002yrh.1_Frame_Shift_Del_p.V278fs|IFNAR2_uc002yrk.1_Frame_Shift_Del_p.V208fs	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	229					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	p.V210F(1)		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)	GTGAGCCTGTCTGTGAGCAAAC	0.49													-	34655526	TG	-	34655525	7	5	275	1	0	1	0	1	0	0	0	0	7545	1580	55	0		0	IFNAR2	21	34655525	Frame_Shift_Del	DEL	TG	TCGA-HU-A4GX-01A-12D-A25D-08	521033	34655525	13474370	1346	142411											
SON	6651	broad.mit.edu	37	chr21	34923050	34923050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtagcaatggagttgaccGaacaacctgtgacgacgaca	11	10	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:34923050G>A	uc002yse.1	+	3	1562	c.1513G>A	c.(1513-1515)GAA>AAA	p.E505K	SON_uc002ysb.1_Missense_Mutation_p.E505K|SON_uc002ysc.2_Missense_Mutation_p.E505K|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	505					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			ovary(4)|skin(2)	6						GGAGTTGACCGAACAACCTGT	0.582													A	34923050	G	A	34923050	3	1	275	1	0	0	0	0	1	0	0	0	14926	1059	37	1	1523	1	SON	21	34923050	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	267525	34923050	13206845	1347	142412											
ITSN1	6453	broad.mit.edu	37	chr21	35122567	35122568	+	Frame_Shift_Ins	INS	-	-	C													tgttcccacagcagctgtgcINScccccctggctaacggggct							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:35122566_35122567G>GC	uc002yta.1	+	5	733_734	c.465_466G>GC	c.(463-468)gtgcccfs	p.V155fs	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Frame_Shift_Ins_p.V39fs|ITSN1_uc002ysy.3_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ysx.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmg.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmi.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc002ytb.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ytc.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmk.3_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Frame_Shift_Ins_p.V89fs|ITSN1_uc021wip.1_Frame_Shift_Ins_p.V49fs	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	155					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	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			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						CAGCAGCTGTGCCCCCCCTGGC	0.525													C	35122568	-	C	35122567	7	5	275	1	0	1	1	0	0	0	0	0	7926	739	26	0	484	0	ITSN1	21	35122567	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	199517	35122567	13007328	1348	142413											
BRWD1	54014	broad.mit.edu	37	chr21	40610462	40610462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctccattcatcctcttctGaagaaccagaaccttcactc	3	15	5	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:40610462G>A	uc002yxk.1	-	22	2658	c.2519C>T	c.(2518-2520)TCA>TTA	p.S840L	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.S840L|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.S293L|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.S516L	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATCCTCTTCTGAAGAACCAGA	0.378													A	40610462	G	A	40610462	3	1	275	1	0	0	0	0	1	0	0	0	1525	1294	45	4	4766	4	BRWD1	21	40610462	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5487895	40610462	7519433	1349	142414											
DSCAM	1826	broad.mit.edu	37	chr21	41710097	41710097	+	Frame_Shift_Del	DEL	C	C	-													caacacgttgcacgtgtactCcccctcgtccacttcctttt							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:41710096_41710096TC>T	uc002yyq.1	-	7	2167	c.1715_1715GA>A	c.(1714-1716)gagfs	p.E572fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	572	Ig-like C2-type 6.				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)				GCACGTGTACTCCCCCTCGTC	0.502													-	41710097	C	-	41710097	7	5	275	1	0	1	0	1	0	0	0	0	4768	864	30	0	4428	0	DSCAM	21	41710097	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	1099635	41710097	6419798	1350	142415											
PRDM15	63977	broad.mit.edu	37	chr21	43239979	43239979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtactcgcggacattgtcgTgcacacgcatgtgctccttc	11	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:43239979T>C	uc002yzq.1	-	25	3428	c.3317A>G	c.(3316-3318)CAC>CGC	p.H1106R	PRDM15_uc002yzo.2_Missense_Mutation_p.H777R|PRDM15_uc002yzp.2_Missense_Mutation_p.H797R|PRDM15_uc002yzr.1_Missense_Mutation_p.H797R	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1106	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GACATTGTCGTGCACACGCAT	0.617													C	43239979	T	C	43239979	3	2	275	1	0	0	0	0	1	0	0	0	12456	1696	59	3	1234	3	PRDM15	21	43239979	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1529882	43239979	4889916	1351	142416											
PWP2	5822	broad.mit.edu	37	chr21	45540349	45540349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgacctcatccatggacGggaccgtgcgagcctttgac	13	12	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45540349G>A	uc002zeb.2	+	11	1399	c.1309G>A	c.(1309-1311)GGG>AGG	p.G437R		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	437	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ATCCATGGACGGGACCGTGCG	0.602													A	45540349	G	A	45540349	3	1	275	1	0	0	0	0	1	0	0	0	12844	1116	39	1	1351	1	PWP2	21	45540349	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2300370	45540349	2589546	1352	142417											
PWP2	5822	broad.mit.edu	37	chr21	45544527	45544527	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgggaggcatgtccaagttCgtgtgcatctaccacgtccg	13	12	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45544527C>T	uc002zeb.2	+	15	1974	c.1884C>T	c.(1882-1884)TTC>TTT	p.F628F		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	628	WD 13.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGTCCAAGTTCGTGTGCATCT	0.607													T	45544527	C	T	45544527	2	4	275	1	0	0	0	0	0	0	0	1	12844	883	31	1		1	PWP2	21	45544527	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4178	45544527	2585368	1353	142418											
DNMT3L	29947	broad.mit.edu	37	chr21	45671576	45671576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatcgaagggtccccactcCtccacctgcaggacagaggg	12	14	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45671576C>A	uc002zeg.1	-	9	1183	c.699G>T	c.(697-699)GAG>GAT	p.E233D	DNMT3L_uc002zeh.1_Missense_Mutation_p.E233D	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	233					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			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTCCCCACTCCTCCACCTGCA	0.647													A	45671576	C	A	45671576	3	1	275	1	0	0	0	0	1	0	0	0	4678	680	24	5	480	5	DNMT3L	21	45671576	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	127049	45671576	2458319	1354	142419											
TRPM2	7226	broad.mit.edu	37	chr21	45855098	45855098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgtaccccatggtcacGcggtgagttcatgtgtgccg	13	12	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45855098G>A	uc002zet.1	+	29	4272	c.4059G>A	c.(4057-4059)ACG>ACA	p.T1353T	TRPM2_uc002zeu.1_Silent_p.T1353T|TRPM2_uc002zew.1_Silent_p.T1353T|TRPM2_uc010gpt.1_Silent_p.T1403T|TRPM2_uc002zex.1_Silent_p.T1139T|TRPM2_uc002zey.1_Silent_p.T832T|TRPM2_uc011aff.1_Silent_p.T34T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1353	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCATGGTCACGCGGTGAGTTC	0.682													A	45855098	G	A	45855098	2	1	275	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRPM2	21	45855098	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	183522	45855098	2274797	1355	142420											
C21orf29	54084	broad.mit.edu	37	chr21	45949813	45949813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcgtctgagcccggcaGcaggaccagttgcctcacca	14	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45949813G>A	uc002zfe.1	-	5	724	c.658C>T	c.(658-660)CTG>TTG	p.L220L	C21orf29_uc010gpv.1_Silent_p.L152L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	220	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GAGCCCGGCAGCAGGACCAGT	0.687													A	45949813	G	A	45949813	2	1	275	1	0	0	0	0	0	0	0	1	2124	962	34	2		2	C21orf29	21	45949813	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	94715	45949813	2180082	1356	142421											
C21orf29	54084	broad.mit.edu	37	chr21	45950952	45950952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctttggctctcctccGgctgccgacgaagaatcgag	12	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45950952G>A	uc002zfe.1	-	4	673	c.607C>T	c.(607-609)CGG>TGG	p.R203W	C21orf29_uc010gpv.1_Missense_Mutation_p.R135W	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	203	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GCTCTCCTCCGGCTGCCGACG	0.587													A	45950952	G	A	45950952	3	1	275	1	0	0	0	0	1	0	0	0	2124	1115	39	1	1438	1	C21orf29	21	45950952	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1139	45950952	2178943	1357	142422											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971168	45971168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctcacaggccgcctgGcagcaggggctggacacaca	15	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45971168G>A	uc002zfi.1	-	1	221	c.174C>T	c.(172-174)TGC>TGT	p.C58C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	58	22 X 5 AA repeats of C-C-X(3).|3.					keratin filament				large_intestine(1)	1						AGGCCGCCTGGCAGCAGGGGC	0.701													A	45971168	G	A	45971168	2	1	275	1	0	0	0	0	0	0	0	1	8509	1195	42	2		2	KRTAP10-2	21	45971168	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	20216	45971168	2158727	1358	142423											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994612	45994612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtctgctgcaagcctgTgagctgtgtgcctgtttgct	13	12	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:45994612T>C	uc002zfk.1	+	1	1007	c.977T>C	c.(976-978)GTG>GCG	p.V326A	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	326	36 X 5 AA repeats of C-C-X(3).|30.					keratin filament					0						TGCAAGCCTGTGAGCTGTGTG	0.627													C	45994612	T	C	45994612	3	2	275	1	0	0	0	0	1	0	0	0	8511	1696	59	3	979	3	KRTAP10-4	21	45994612	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	23444	45994612	2135283	1359	142424											
ITGB2	3689	broad.mit.edu	37	chr21	46309915	46309915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgccgcagacctggccGttgtagcgctcacagttgat	14	13	1	2	rs61747606	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:46309915G>A	uc002zgd.2	-	11	1679	c.1635C>T	c.(1633-1635)AAC>AAT	p.N545N	ITGB2_uc002zge.2_Silent_p.N545N|ITGB2_uc002zgf.3_Silent_p.N545N|ITGB2_uc011afl.1_Silent_p.N467N|ITGB2_uc010gpw.2_Silent_p.N488N|ITGB2_uc002zgg.2_Silent_p.N545N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	545	Extracellular (Potential).|Cysteine-rich tandem repeats.|III.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGACCTGGCCGTTGTAGCGCT	0.652													A	46309915	G	A	46309915	2	1	275	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	ITGB2	21	46309915	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	315303	46309915	1819980	1360	142425											
ADARB1	104	broad.mit.edu	37	chr21	46596126	46596126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcacatctgaccaggcCgacttccctgacacgctctt	7	16	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:46596126C>T	uc002zgy.2	+	4	945	c.510C>T	c.(508-510)GCC>GCT	p.A170A	ADARB1_uc002zgr.2_Silent_p.A170A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.A170A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.A170A|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.A219A	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	170					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		CTGACCAGGCCGACTTCCCTG	0.557													T	46596126	C	T	46596126	2	4	275	1	0	0	0	0	0	0	0	1	282	639	23	1		1	ADARB1	21	46596126	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	286211	46596126	1533769	1361	142426											
COL6A1	1291	broad.mit.edu	37	chr21	47423591	47423591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgacgccaccgacgtcaaCgatgccctgggctatgtgac	11	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:47423591C>T	uc002zhu.1	+	35	2853	c.2751C>T	c.(2749-2751)AAC>AAT	p.N917N	COL6A1_uc010gqd.1_Silent_p.N248N|COL6A1_uc002zhv.1_Silent_p.N248N|COL6A1_uc002zhw.1_Silent_p.N11N	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	917	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGACGTCAACGATGCCCTGG	0.642													T	47423591	C	T	47423591	2	4	275	1	0	0	0	0	0	0	0	1	3699	535	19	1		1	COL6A1	21	47423591	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	827465	47423591	706304	1362	142427											
FTCD	10841	broad.mit.edu	37	chr21	47571587	47571587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcctcgcccccgtggccGtggccccccaactggggaca	11	19	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:47571587G>A	uc002zif.2	-	5	565	c.521C>T	c.(520-522)ACG>ATG	p.T174M	FTCD_uc002zig.2_Missense_Mutation_p.T174M|FTCD_uc002zih.2_Missense_Mutation_p.T174M|FTCD_uc010gqf.2_Missense_Mutation_p.T174M|FTCD_uc010gqg.1_Missense_Mutation_p.T43M	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	174	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			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCCCGTGGCCGTGGCCCCCCA	0.642													A	47571587	G	A	47571587	3	1	275	1	0	0	0	0	1	0	0	0	6081	1145	40	1	1144	1	FTCD	21	47571587	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	147996	47571587	558308	1363	142428											
PRMT2	3275	broad.mit.edu	37	chr21	48068533	48068533	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcgcggcctagagcggTgagtggggtctcgagcgcat	17	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr21:48068533T>C	uc002zjx.2	+	6	803	c.489_splice	c.e6+2	p.A163_splice	PRMT2_uc002zjw.2_Splice_Site_p.A163_splice|PRMT2_uc002zjy.2_Splice_Site_p.A163_splice|PRMT2_uc010gqm.2_Splice_Site_p.A163_splice|PRMT2_uc011aga.1_Splice_Site_p.A163_splice|PRMT2_uc011agb.1_Splice_Site_p.A163_splice|PRMT2_uc011agc.1_Splice_Site_p.A163_splice|PRMT2_uc002zjz.1_Splice_Site_p.A49_splice	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1						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			ovary(1)	1	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)		CCTAGAGCGGTGAGTGGGGTC	0.592													C	48068533	T	C	48068533	5	2	275	1	0	0	0	0	0	0	1	0	12537	1710	59	3	505	3	PRMT2	21	48068533	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	496946	48068533	61362	1364	142429											
IL17RA	23765	broad.mit.edu	37	chr22	17589491	17589491	+	Frame_Shift_Del	DEL	G	G	-													gtggcaggcgctcctgggccGgggggcgcctgtgcggctgc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:17589490_17589490CG>C	uc002zly.3	+	12	1512	c.1381_1381CG>C	c.(1381-1383)cggfs	p.R461fs		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	461	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.A463fs*48(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)		GCTCCTGGGCCGGGGGGCGCC	0.667													-	17589491	G	-	17589491	7	5	275	1	0	1	0	1	0	0	0	0	7639	1116	39	0	1432	0	IL17RA	22	17589491	Frame_Shift_Del	DEL	G	TCGA-HU-A4GX-01A-12D-A25D-08		17589491	33715075	1365	142430											
RTN4R	65078	broad.mit.edu	37	chr22	20230131	20230131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaggttgcccaggtcGcggaaggtgtcatcaggcag	17	8	2	1	rs140080129		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:20230131G>A	uc002zrv.2	-	2	726	c.525C>T	c.(523-525)CGC>CGT	p.R175R	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	175	LRR 5.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					TGCCCAGGTCGCGGAAGGTGT	0.677													A	20230131	G	A	20230131	2	1	275	1	0	0	0	0	0	0	0	1	13730	1074	38	1		1	RTN4R	22	20230131	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2640640	20230131	31074435	1366	142431											
MED15	51586	broad.mit.edu	37	chr22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-													ccccgcagtcgatgccccctCccccccagccgtccccgcag							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:20936976delC	uc002zsp.2	+	10	1431	c.1351delC	c.(1351-1353)CCCfs	p.P451fs	MED15_uc002zsq.2_Frame_Shift_Del_p.P411fs|MED15_uc010gso.2_Frame_Shift_Del_p.P394fs|MED15_uc002zsr.2_Frame_Shift_Del_p.P385fs|MED15_uc011ahs.1_Frame_Shift_Del_p.P385fs|MED15_uc002zss.2_Frame_Shift_Del_p.P330fs|MED15_uc011ahu.1_Frame_Shift_Del_p.P161fs|MED15_uc002zst.2_Frame_Shift_Del_p.P67fs|MED15_uc002zsu.2_Frame_Shift_Del_p.P56fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	451	Pro-rich.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	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)			GATGCCCCCTCCCCCCCAGCC	0.726													-	20936976	C	-	20936976	7	5	275	1	0	1	0	1	0	0	0	0	9433	855	30	0	1389	0	MED15	22	20936976	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	706845	20936976	30367590	1367	142432											
LZTR1	8216	broad.mit.edu	37	chr22	21340148	21340150	+	In_Frame_Del	DEL	CCT	CCT	-													aggaagaccatgctcaatgaCctcctgcggttcgatgtgaa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:21340147_21340149ACCT>A	uc002zto.3	+	2	384_386	c.281_283ACCT>A	c.(280-285)gacctc>gAtc	p.L96del	LZTR1_uc002ztn.3_In_Frame_Del_p.L55del|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	96					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)			ATGCTCAATGACCTCCTGCGGTT	0.601													-	21340150	CCT	-	21340148	7	5	275	1	0	1	0	1	0	0	0	0	9137	506	18	0	292	0	LZTR1	22	21340148	In_Frame_Del	DEL	CCT	TCGA-HU-A4GX-01A-12D-A25D-08	403172	21340148	29964418	1368	142433											
CCDC116	164592	broad.mit.edu	37	chr22	21989326	21989326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgtggataagctccGtggcgcccactgccgcgacg	14	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:21989326G>A	uc002zve.2	+	4	1067	c.974G>A	c.(973-975)CGT>CAT	p.R325H	CCDC116_uc011aih.1_Missense_Mutation_p.R325H	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	325										ovary(1)|skin(1)	2	Colorectal(54;0.105)					GATAAGCTCCGTGGCGCCCAC	0.652													A	21989326	G	A	21989326	3	1	275	1	0	0	0	0	1	0	0	0	2753	1145	40	1	984	1	CCDC116	22	21989326	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	649178	21989326	29315240	1369	142434											
CCDC116	164592	broad.mit.edu	37	chr22	21989345	21989345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcgcccactgccgcgaCggccgtcctctgttccccac	11	20	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:21989345C>T	uc002zve.2	+	4	1086	c.993C>T	c.(991-993)GAC>GAT	p.D331D	CCDC116_uc011aih.1_Silent_p.D331D	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	331										ovary(1)|skin(1)	2	Colorectal(54;0.105)					ACTGCCGCGACGGCCGTCCTC	0.647													T	21989345	C	T	21989345	2	4	275	1	0	0	0	0	0	0	0	1	2753	535	19	1		1	CCDC116	22	21989345	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	19	21989345	29315221	1370	142435											
GNAZ	2781	broad.mit.edu	37	chr22	23438488	23438489	+	Frame_Shift_Ins	INS	-	-	G													ccttcaagatggtggacgtgINSggggggcagaggtcagagcg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:23438487_23438488T>TG	uc002zwu.1	+	1	1142_1143	c.605_606T>TG	c.(604-606)gtgfs	p.V202fs	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	202						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.D201D(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)		ATGGTGGACGTGGGGGGGCAGA	0.574													G	23438489	-	G	23438488	7	5	275	1	0	1	1	0	0	0	0	0	6514	1335	47	0	608	0	GNAZ	22	23438488	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1449143	23438488	27866078	1371	142436											
CABIN1	23523	broad.mit.edu	37	chr22	24560391	24560391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggcggatccccgtggaCgagattgaccggccgggcag	16	12	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:24560391C>T	uc002zzi.1	+	30	4897	c.4770C>T	c.(4768-4770)GAC>GAT	p.D1590D	CABIN1_uc002zzj.1_Silent_p.D1511D|CABIN1_uc002zzl.1_Silent_p.D1590D|CABIN1_uc002zzm.1_Silent_p.D15D	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1590					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TCCCCGTGGACGAGATTGACC	0.657													T	24560391	C	T	24560391	2	4	275	1	0	0	0	0	0	0	0	1	2528	535	19	1		1	CABIN1	22	24560391	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1121903	24560391	26744175	1372	142437											
SUSD2	56241	broad.mit.edu	37	chr22	24580158	24580158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttggtgaacgagacgcGttggcaatactacggcaccg	14	10	0	2	rs139840706		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:24580158G>A	uc002zzn.1	+	4	538	c.494G>A	c.(493-495)CGT>CAT	p.R165H		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	165	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AACGAGACGCGTTGGCAATAC	0.607													A	24580158	G	A	24580158	3	1	275	1	0	0	0	0	1	0	0	0	15405	1145	40	1	508	1	SUSD2	22	24580158	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	19767	24580158	26724408	1373	142438											
SGSM1	129049	broad.mit.edu	37	chr22	25294248	25294248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgggaggagctggccGtgcaggacagcctggagagt	17	12	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:25294248G>A	uc003abg.2	+	20	2654	c.2497G>A	c.(2497-2499)GTG>ATG	p.V833M	SGSM1_uc003abh.2_Missense_Mutation_p.V772M|SGSM1_uc010guu.1_Missense_Mutation_p.V778M|SGSM1_uc003abj.2_Missense_Mutation_p.V717M|SGSM1_uc003abi.1_Missense_Mutation_p.V753M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	833	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						GGAGCTGGCCGTGCAGGACAG	0.642													A	25294248	G	A	25294248	3	1	275	1	0	0	0	0	1	0	0	0	14222	1145	40	1	2575	1	SGSM1	22	25294248	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	714090	25294248	26010318	1374	142439											
HPS4	89781	broad.mit.edu	37	chr22	26862218	26862218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcggggcatcctctcccGtagggagtctctgaaaacaa	11	13	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:26862218G>A	uc003acl.2	-	9	1339	c.680C>T	c.(679-681)ACG>ATG	p.T227M	HPS4_uc003aci.2_Missense_Mutation_p.T222M|HPS4_uc003acj.2_Missense_Mutation_p.T73M|HPS4_uc003ack.2_Missense_Mutation_p.T18M|HPS4_uc003acn.2_Missense_Mutation_p.T73M|HPS4_uc010gvd.1_Missense_Mutation_p.T227M|HPS4_uc003ach.2_Translation_Start_Site	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	227					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						ATCCTCTCCCGTAGGGAGTCT	0.507									Hermansky-Pudlak_syndrome				A	26862218	G	A	26862218	3	1	275	1	0	0	0	0	1	0	0	0	7341	1145	40	1	1470	1	HPS4	22	26862218	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1567970	26862218	24442348	1375	142440											
MN1	4330	broad.mit.edu	37	chr22	28196403	28196403	+	Frame_Shift_Del	DEL	C	C	-													ggatccacagggccagggggCcccccagtgtggaaagccgg					rs34230249		TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:28196402_28196402GC>G	uc003adj.3	-	0	1085	c.130_130GC>C	c.(130-132)cccfs	p.P44fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	44							binding	p.P44R(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						GGGCCAGGGGGCCCCCCAGTG	0.642			T	ETV6	"AML, meningioma"								-	28196403	C	-	28196403	7	5	275	1	0	1	0	1	0	0	0	0	9673	726	26	0	3841	0	MN1	22	28196403	Frame_Shift_Del	DEL	C	TCGA-HU-A4GX-01A-12D-A25D-08	1334185	28196403	23108163	1376	142441											
OSM	5008	broad.mit.edu	37	chr22	30660117	30660118	+	Frame_Shift_Ins	INS	-	-	C													ggggtgggcggctgagaggcINScccccggccagccttcgtgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:30660116_30660117G>GC	uc003ahb.3	-	2	555_556	c.514_515C>GC	c.(514-516)gccfs	p.A172fs		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	172					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CGGCTGAGAGGCCCCCCGGCCA	0.644													C	30660118	-	C	30660117	7	5	275	1	0	1	1	0	0	0	0	0	11291	739	26	0	248	0	OSM	22	30660117	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	2463714	30660117	20644449	1377	142442											
OSM	5008	broad.mit.edu	37	chr22	30660134	30660134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccccccggccagccttcGtgggctcagccgtgtctgag	14	16	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:30660134G>A	uc003ahb.2	-	3	549	c.497C>T	c.(496-498)ACG>ATG	p.T166M		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	166					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			GCCAGCCTTCGTGGGCTCAGC	0.637													A	30660134	G	A	30660134	3	1	275	1	0	0	0	0	1	0	0	0	11291	1145	40	1	265	1	OSM	22	30660134	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	17	30660134	20644432	1378	142443											
SLC35E4	339665	broad.mit.edu	37	chr22	31042594	31042594	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttgcaggtgccctgcTgcaggaggagaggctggacg	17	10	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:31042594T>G	uc003ais.1	+	2	1274	c.629T>G	c.(628-630)CTG>CGG	p.L210R	SLC35E4_uc003ait.2_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	210	Leu-rich.					integral to membrane					0						GGTGCCCTGCTGCAGGAGGAG	0.652													G	31042594	T	G	31042594	3	3	275	1	0	0	0	0	1	0	0	0	14587	1580	55	5	635	5	SLC35E4	22	31042594	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	382460	31042594	20261972	1379	142444											
OSBP2	23762	broad.mit.edu	37	chr22	31285625	31285625	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggatccccatgccggTgggtggctcgggcagggcag	17	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:31285625T>C	uc003aiy.1	+	7	1727	c.1623_splice	c.e7+2	p.P541_splice	OSBP2_uc011ala.1_Splice_Site_p.P375_splice|OSBP2_uc010gwc.1_Splice_Site_p.P368_splice|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Splice_Site_p.P540_splice|OSBP2_uc003aja.1_Splice_Site_p.P174_splice|OSBP2_uc011alc.1_Splice_Site_p.P283_splice|OSBP2_uc003ajb.2_Splice_Site_p.P86_splice|OSBP2_uc011ald.1_Splice_Site_p.P85_splice|OSBP2_uc010gwd.1_Splice_Site_p.P86_splice	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a						lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CCCATGCCGGTGGGTGGCTCG	0.607													C	31285625	T	C	31285625	5	2	275	1	0	0	0	0	0	0	1	0	11274	1710	59	3	1651	3	OSBP2	22	31285625	Splice_Site	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	243031	31285625	20018941	1380	142445											
NCF4	4689	broad.mit.edu	37	chr22	37266489	37266489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtctgggtgctgatGgatgaggacgtccggatctt	16	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:37266489G>T	uc003apy.3	+	5	559	c.375G>T	c.(373-375)ATG>ATT	p.M125I	NCF4_uc003apz.3_Missense_Mutation_p.M125I	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	125	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						GGGTGCTGATGGATGAGGACG	0.617													T	37266489	G	T	37266489	3	4	275	1	0	0	0	0	1	0	0	0	10218	1348	47	5	393	5	NCF4	22	37266489	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5980864	37266489	14038077	1381	142446											
MICALL1	85377	broad.mit.edu	37	chr22	38322027	38322027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagcgccctgccccgcGcgcacccagcgcgtccccac	10	21	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38322027G>A	uc003aui.2	+	8	1526	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	481	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CCTGCCCCGCGCGCACCCAGC	0.706													A	38322027	G	A	38322027	3	1	275	1	0	0	0	0	1	0	0	0	9573	1087	38	1	1472	1	MICALL1	22	38322027	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1055538	38322027	12982539	1382	142447											
POLR2F	5435	broad.mit.edu	37	chr22	38355453	38355453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaagtacgagcgagcccGcgtgctgggcacccgagcgc	15	15	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38355453G>A	uc003aul.2	+	3	312	c.191G>A	c.(190-192)CGC>CAC	p.R64H	POLR2F_uc010gxi.2_Silent_p.P57P|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	64					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)	1	Melanoma(58;0.045)					GAGCGAGCCCGCGTGCTGGGC	0.582													A	38355453	G	A	38355453	3	1	275	1	0	0	0	0	1	0	0	0	12219	1087	38	1	201	1	POLR2F	22	38355453	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	33426	38355453	12949113	1383	142448											
KCNJ4	3761	broad.mit.edu	37	chr22	38823826	38823826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccaccggggctgctccGccaccacccgccgccgggcc	15	21	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38823826G>A	uc003avs.1	-	2	409	c.312C>T	c.(310-312)GGC>GGT	p.G104G	KCNJ4_uc003avt.1_Silent_p.G104G	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	104	Poly-Gly.|Val/Gly/Ala/Pro stretch.|Extracellular (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GGGCTGCTCCGCCACCAcccg	0.562													A	38823826	G	A	38823826	2	1	275	1	0	0	0	0	0	0	0	1	8053	1074	38	1		1	KCNJ4	22	38823826	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	468373	38823826	12480740	1384	142449											
KCNJ4	3761	broad.mit.edu	37	chr22	38824116	38824116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggcacgtgggcctggcCgttgcggctgtgtccgtgca	18	13	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:38824116C>T	uc003avs.1	-	2	119	c.22G>A	c.(22-24)GGC>AGC	p.G8S	KCNJ4_uc003avt.1_Missense_Mutation_p.G8S	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	8	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGGGCCTGGCCGTTGCGGCTG	0.657													T	38824116	C	T	38824116	3	4	275	1	0	0	0	0	1	0	0	0	8053	652	23	1	1319	1	KCNJ4	22	38824116	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	290	38824116	12480450	1385	142450											
SMCR7L	54471	broad.mit.edu	37	chr22	39907950	39907950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaactggatgggctccccaCgactgctgaacagggacatg	12	13	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:39907950C>T	uc003axx.2	+	4	739	c.241C>T	c.(241-243)CGA>TGA	p.R81*	SMCR7L_uc003axw.2_Nonsense_Mutation_p.R81*|SMCR7L_uc010gxz.1_Translation_Start_Site|SMCR7L_uc003axy.2_Translation_Start_Site	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	81						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)					GGGCTCCCCACGACTGCTGAA	0.622													T	39907950	C	T	39907950	4	4	275	1	0	0	0	0	0	1	0	0	14791	528	19	1	247	1	SMCR7L	22	39907950	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1083834	39907950	11396616	1386	142451											
CYP2D6	1565	broad.mit.edu	37	chr22	42522946	42522946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaagggcttctcccagaCggcctcatccttcagcaccg	11	16	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:42522946C>T	uc003bce.2	-	8	1312	c.1222G>A	c.(1222-1224)GTC>ATC	p.V408I	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.V102I|CYP2D6_uc003bcf.2_Missense_Mutation_p.V357I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	408							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			breast(1)|skin(1)	2						TTCTCCCAGACGGCCTCATCC	0.602													T	42522946	C	T	42522946	3	4	275	1	0	0	0	0	1	0	0	0	4169	536	19	1	279	1	CYP2D6	22	42522946	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2614996	42522946	8781620	1387	142452											
CYP2D6	1565	broad.mit.edu	37	chr22	42526712	42526712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtagcgtgcagcccagcGttggcgccggtgcatcaggt	17	11	1	0	rs138100349	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:42526712G>A	uc003bce.2	-	1	172	c.82C>T	c.(82-84)CGC>TGC	p.R28C	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'Flank|CYP2D6_uc003bcf.2_Missense_Mutation_p.R28C	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	28							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			breast(1)|skin(1)	2						GCAGCCCAGCGTTGGCGCCGG	0.627													A	42526712	G	A	42526712	3	1	275	1	0	0	0	0	1	0	0	0	4169	1145	40	1	1447	1	CYP2D6	22	42526712	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3766	42526712	8777854	1388	142453											
TTLL1	25809	broad.mit.edu	37	chr22	43447858	43447858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgatgtcgtagccataGcattcaaagcagtgcttgtc	10	8	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:43447858G>A	uc003bdi.2	-	9	1168	c.927C>T	c.(925-927)TGC>TGT	p.C309C	TTLL1_uc010gzh.2_Intron|TTLL1_uc003bdj.2_Silent_p.C195C|TTLL1_uc003bdh.2_Silent_p.C271C	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	309	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CGTAGCCATAGCATTCAAAGC	0.572													A	43447858	G	A	43447858	2	1	275	1	0	0	0	0	0	0	0	1	16719	963	34	2		2	TTLL1	22	43447858	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	921146	43447858	7856708	1389	142454											
C22orf9	23313	broad.mit.edu	37	chr22	45601544	45601544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggatgtgaatgtccccGccgtcagcacgtgtgcacac	11	12	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:45601544G>A	uc003bfx.1	-	4	447	c.381C>T	c.(379-381)GGC>GGT	p.G127G	C22orf9_uc010gzw.1_Intron|C22orf9_uc003bfv.1_Silent_p.G136G|C22orf9_uc003bfw.1_Silent_p.G132G|C22orf9_uc010gzx.2_Silent_p.G109G	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	127							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		GAATGTCCCCGCCGTCAGCAC	0.612													A	45601544	G	A	45601544	2	1	275	1	0	0	0	0	0	0	0	1	2151	1074	38	1		1	C22orf9	22	45601544	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2153686	45601544	5703022	1390	142455											
PKDREJ	10343	broad.mit.edu	37	chr22	46655628	46655628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaaaaagctaggcccaCgtataagagaataatgaaaa	8	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:46655628C>T	uc003bhh.2	-	1	3592	c.3592G>A	c.(3592-3594)GTG>ATG	p.V1198M		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1198	Helical; (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTAGGCCCACGTATAAGAGA	0.428													T	46655628	C	T	46655628	3	4	275	1	0	0	0	0	1	0	0	0	11970	536	19	1	3173	1	PKDREJ	22	46655628	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1054084	46655628	4648938	1391	142456											
CELSR1	9620	broad.mit.edu	37	chr22	46761168	46761168	+	Frame_Shift_Del	DEL	T	T	-													gcgcccctggccgggtcccaTttttcctcagctcccacccc							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:46761168delT	uc003bhw.1	-	32	8514	c.8514delA	c.(8512-8514)AAAfs	p.K2838fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2838	Cytoplasmic (Potential).				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			lung(4)|breast(4)|pancreas(2)|skin(1)	11		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)		CCGGGTCCCATTTTTCCTCAG	0.657													-	46761168	T	-	46761168	7	5	275	1	0	1	0	1	0	0	0	0	3221	1490	52	0	546	0	CELSR1	22	46761168	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	105540	46761168	4543398	1392	142457											
TTLL8	164714	broad.mit.edu	37	chr22	50472806	50472806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggccccgggacttggccGcgggctttataatccagatg	13	13	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50472806G>A	uc011ark.1	-	9	1007	c.1007C>T	c.(1006-1008)GCG>GTG	p.A336V		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		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)		GGACTTGGCCGCGGGCTTTAT	0.587													A	50472806	G	A	50472806	3	1	275	1	0	0	0	0	1	0	0	0	16730	1087	38	1	1520	1	TTLL8	22	50472806	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	3711638	50472806	831760	1393	142458											
PANX2	56666	broad.mit.edu	37	chr22	50615416	50615416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttcacgcgcgaccaggCgctgtacgcccgcggctact	11	17	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50615416C>T	uc003bjn.3	+	2	275	c.275C>T	c.(274-276)GCG>GTG	p.A92V	PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Missense_Mutation_p.A92V	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	92	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGCGACCAGGCGCTGTACGCC	0.692													T	50615416	C	T	50615416	3	4	275	1	0	0	0	0	1	0	0	0	11421	768	27	1	281	1	PANX2	22	50615416	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	142610	50615416	689150	1394	142459											
TRABD	80305	broad.mit.edu	37	chr22	50636357	50636357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccatcgtctcggagcgCgacgtctacctaacctacat	8	16	2	0	rs147697891	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50636357C>T	uc003bjq.1	+	8	863	c.777C>T	c.(775-777)CGC>CGT	p.R259R	TRABD_uc003bjr.1_Silent_p.R143R|TRABD_uc003bjs.1_Silent_p.R259R|TRABD_uc003bjt.1_Silent_p.R259R|TRABD_uc003bju.1_Silent_p.R259R|TRABD_uc003bjv.2_Silent_p.R259R|TRABD_uc003bjw.1_Silent_p.R259R	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	259											0		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)		TCTCGGAGCGCGACGTCTACC	0.662													T	50636357	C	T	50636357	2	4	275	1	0	0	0	0	0	0	0	1	16432	755	27	1		1	TRABD	22	50636357	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	20941	50636357	668209	1395	142460											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682481	50682481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtttctccccacatgcttGttgttaaggaagtagtctcg	9	10	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50682481G>A	uc003bkb.1	-	1	920	c.408C>T	c.(406-408)AAC>AAT	p.N136N	TUBGCP6_uc010har.1_Silent_p.N136N|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.N136N	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	136					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		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)		CCACATGCTTGTTGTTAAGGA	0.522													A	50682481	G	A	50682481	2	1	275	1	0	0	0	0	0	0	0	1	16767	1368	48	4		4	TUBGCP6	22	50682481	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	46124	50682481	622085	1396	142461											
HDAC10	83933	broad.mit.edu	37	chr22	50684142	50684142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctccagctgccctctcaGgtacatcagggcctggacgt	12	14	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:50684142G>T	uc003bkg.2	-	19	2321	c.1948C>A	c.(1948-1950)CTG>ATG	p.L650M	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.L376M|HDAC10_uc003bkf.2_Missense_Mutation_p.L376M|HDAC10_uc010hav.2_Missense_Mutation_p.L630M|HDAC10_uc003bkh.2_Missense_Mutation_p.L443M|HDAC10_uc003bki.2_Missense_Mutation_p.L600M|HDAC10_uc003bkj.2_RNA	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	650					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)				0		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)		TGCCCTCTCAGGTACATCAGG	0.657													T	50684142	G	T	50684142	3	4	275	1	0	0	0	0	1	0	0	0	7005	991	35	5	69	5	HDAC10	22	50684142	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1661	50684142	620424	1397	142462											
RABL2B	11158	broad.mit.edu	37	chr22	51214269	51214269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgctcctggcctgccgtGtcccaaaagtctgcaatgtg	10	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chr22:51214269G>A	uc003bno.1	-	5	444	c.228C>T	c.(226-228)GAC>GAT	p.D76D	RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_RNA|RABL2B_uc003bnm.1_Silent_p.D76D|RABL2B_uc011asf.1_Silent_p.D76D|RABL2B_uc003bnn.1_Silent_p.D76D|RABL2B_uc003bnk.1_Silent_p.D76D|RABL2B_uc011asg.1_Silent_p.D76D|RABL2B_uc003bnl.1_Silent_p.D76D|RABL2B_uc011ash.1_RNA	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	76	GTP (By similarity).				small GTPase mediated signal transduction		GTP binding|GTPase activity				0		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;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGCCGTGTCCCAAAAGT	0.552													A	51214269	G	A	51214269	2	1	275	1	0	0	0	0	0	0	0	1	12971	1368	48	4		4	RABL2B	22	51214269	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	530127	51214269	90297	1398	142463											
NLGN4X	57502	broad.mit.edu	37	chrX	5821684	5821684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctgggatgacgtcgccGtcgatcaccggcccgaaggc	14	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:5821684G>A	uc010ndh.2	-	5	1536	c.1035C>T	c.(1033-1035)GAC>GAT	p.D345D	NLGN4X_uc004crp.2_Silent_p.D365D|NLGN4X_uc004crq.2_Silent_p.D345D|NLGN4X_uc010ndi.2_Silent_p.D382D|NLGN4X_uc004crr.2_Silent_p.D345D|NLGN4X_uc010ndj.2_Silent_p.D345D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	345	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						TGACGTCGCCGTCGATCACCG	0.587													A	5821684	G	A	5821684	2	1	275	1	0	0	0	0	0	0	0	1	10464	1136	40	1		1	NLGN4X	23	5821684	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08		5821684	149448876	1399	142464											
STS	412	broad.mit.edu	37	chrX	7268249	7268249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgctgtccttccaccGgcctgtcttgccagtgtgat	11	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:7268249G>A	uc004cry.3	+	10	1944	c.1699G>A	c.(1699-1701)GGC>AGC	p.G567S		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	567	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCCTTCCACCGGCCTGTCTTG	0.552									Ichthyosis				A	7268249	G	A	7268249	3	1	275	1	0	0	0	0	1	0	0	0	15331	1116	39	1	1737	1	STS	23	7268249	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1446565	7268249	148002311	1400	142465											
KAL1	3730	broad.mit.edu	37	chrX	8504931	8504931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccgtattggttggacaGtcaccttatacttgcaggaa	11	8	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:8504931G>A	uc004csf.2	-	11	1652	c.1502C>T	c.(1501-1503)ACT>ATT	p.T501I		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	501	Fibronectin type-III 3.				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			ovary(3)|pancreas(1)	4						TGGTTGGACAGTCACCTTATA	0.413													A	8504931	G	A	8504931	3	1	275	1	0	0	0	0	1	0	0	0	7974	1029	36	4	556	4	KAL1	23	8504931	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1236682	8504931	146765629	1401	142466											
WWC3	55841	broad.mit.edu	37	chrX	10085333	10085333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggcagccagcttctaCgcttcgacctcattcccttc	8	16	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:10085333C>T	uc004csx.3	+	11	1432	c.1234C>T	c.(1234-1236)CGC>TGC	p.R412C	WWC3_uc010nds.2_Missense_Mutation_p.R76C|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	412	Ser-rich.									ovary(4)	4						CCAGCTTCTACGCTTCGACCT	0.652													T	10085333	C	T	10085333	3	4	275	1	0	0	0	0	1	0	0	0	17410	536	19	1	1272	1	WWC3	23	10085333	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1580402	10085333	145185227	1402	142467											
HCCS	3052	broad.mit.edu	37	chrX	11139095	11139095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtattcaccaagggcacGaattcgttcctggatggggt	13	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:11139095G>A	uc004cuk.2	+	6	856	c.590G>A	c.(589-591)CGA>CAA	p.R197Q	HCCS_uc004cuj.2_Missense_Mutation_p.R197Q|HCCS_uc004cul.1_Missense_Mutation_p.R197Q	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	197					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						CCAAGGGCACGAATTCGTTCC	0.453													A	11139095	G	A	11139095	3	1	275	1	0	0	0	0	1	0	0	0	6990	1058	37	1	608	1	HCCS	23	11139095	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1053762	11139095	144131465	1403	142468											
TLR7	51284	broad.mit.edu	37	chrX	12904062	12904062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactagagataccgcagggCctcccgcctagcttacagct	9	15	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:12904062C>T	uc004cvc.2	+	3	574	c.435C>T	c.(433-435)GGC>GGT	p.G145G		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	145	Extracellular (Potential).|LRR 4.				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			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	TACCGCAGGGCCTCCCGCCTA	0.453													T	12904062	C	T	12904062	2	4	275	1	0	0	0	0	0	0	0	1	15953	726	26	2		2	TLR7	23	12904062	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1764967	12904062	142366498	1404	142469											
GLRA2	2742	broad.mit.edu	37	chrX	14748344	14748344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaggaagaagacgttactCgtgaaagtcgttttaatttt	10	5	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:14748344C>T	uc010nep.2	+	10	1428	c.1096C>T	c.(1096-1098)CGT>TGT	p.R366C	GLRA2_uc010neq.2_Missense_Mutation_p.R366C|GLRA2_uc004cwe.3_Missense_Mutation_p.R366C|GLRA2_uc011mio.1_Missense_Mutation_p.R277C|GLRA2_uc011mip.1_Missense_Mutation_p.R344C	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	366	Cytoplasmic (Probable).				neuropeptide signaling pathway	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			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGACGTTACTCGTGAAAGTCG	0.443													T	14748344	C	T	14748344	3	4	275	1	0	0	0	0	1	0	0	0	6455	884	31	1	1202	1	GLRA2	23	14748344	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1844282	14748344	140522216	1405	142470											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560113	19560113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccttagctcctccacggCcgcctggctgctggccgcag	12	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:19560113C>T	uc004czm.2	-	16	2138	c.1822G>A	c.(1822-1824)GCC>ACC	p.A608T	SH3KBP1_uc011mje.1_Missense_Mutation_p.A347T|SH3KBP1_uc011mjf.1_Missense_Mutation_p.A370T|SH3KBP1_uc004czl.2_Missense_Mutation_p.A571T|SH3KBP1_uc010nfm.2_Missense_Mutation_p.A53T	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	608	Potential.				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				0						TCCTCCACGGCCGCCTGGCTG	0.612													T	19560113	C	T	19560113	3	4	275	1	0	0	0	0	1	0	0	0	14255	739	26	2	187	2	SH3KBP1	23	19560113	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	4811769	19560113	135710447	1406	142471											
SH3KBP1	30011	broad.mit.edu	37	chrX	19560254	19560254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagaggggctggcccacCgccacctgctgccatggtcc	14	16	0	1	rs113170456	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:19560254C>T	uc004czm.2	-	16	1997	c.1681G>A	c.(1681-1683)GGT>AGT	p.G561S	SH3KBP1_uc011mje.1_Missense_Mutation_p.G300S|SH3KBP1_uc011mjf.1_Missense_Mutation_p.G323S|SH3KBP1_uc004czl.2_Missense_Mutation_p.G524S|SH3KBP1_uc010nfm.2_Missense_Mutation_p.G6S	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	561					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				0						GCTGGCCCACCGCCACCTGCT	0.657													T	19560254	C	T	19560254	3	4	275	1	0	0	0	0	1	0	0	0	14255	652	23	1	328	1	SH3KBP1	23	19560254	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	141	19560254	135710306	1407	142472											
RPS6KA3	6197	broad.mit.edu	37	chrX	20195138	20195138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttgcaggatttcgctTgaaaagcattcgtaaaagac	9	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:20195138T>C	uc004czu.2	-	11	910	c.910A>G	c.(910-912)AAG>GAG	p.K304E	RPS6KA3_uc011mjk.1_Missense_Mutation_p.K275E|RPS6KA3_uc004czv.2_Missense_Mutation_p.K292E|RPS6KA3_uc011mjl.1_Missense_Mutation_p.K276E|RPS6KA3_uc011mjm.1_Missense_Mutation_p.K276E	NM_004586	NP_004577	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	304	Protein kinase 1.				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			central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						GGATTTCGCTTGAAAAGCATT	0.318													C	20195138	T	C	20195138	3	2	275	1	0	0	0	0	1	0	0	0	13652	1821	63	3	1360	3	RPS6KA3	23	20195138	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	634884	20195138	135075422	1408	142473											
KLHL34	257240	broad.mit.edu	37	chrX	21675899	21675899	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagtaagacaggaagTaactcattctacccagggct	9	10	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:21675899T>C	uc004czz.1	-	1	550	c.8A>G	c.(7-9)TAC>TGC	p.Y3C		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	3										ovary(1)	1						AGACAGGAAGTAACTCATTCT	0.677													C	21675899	T	C	21675899	3	2	275	1	0	0	0	0	1	0	0	0	8387	1638	57	3	1930	3	KLHL34	23	21675899	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	1480761	21675899	133594661	1409	142474											
MBTPS2	51360	broad.mit.edu	37	chrX	21887644	21887644	+	Frame_Shift_Del	DEL	T	T	-													tgccattggacccagaggccTttttgtgggagaccttgtca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:21887643_21887643CT>C	uc004dae.3	+	6	1014	c.817_817CT>C	c.(817-819)cttfs	p.L273fs	MBTPS2_uc010nfr.3_5'UTR|MBTPS2_uc004dab.2_Frame_Shift_Del_p.L273fs	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	273					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						ACCCAGAGGCCTTTTTGTGGG	0.418													-	21887644	T	-	21887644	7	5	275	1	0	1	0	1	0	0	0	0	9362	1609	56	0	844	0	MBTPS2	23	21887644	Frame_Shift_Del	DEL	T	TCGA-HU-A4GX-01A-12D-A25D-08	211745	21887644	133382916	1410	142475											
ZNF645	158506	broad.mit.edu	37	chrX	22291397	22291397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaagtatgtccgcgctgtCgttatcctgtgctgagaatt	10	8	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:22291397C>T	uc004dai.1	+	1	338	c.289C>T	c.(289-291)CGT>TGT	p.R97C		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	97	RING-type.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						TCCGCGCTGTCGTTATCCTGT	0.398													T	22291397	C	T	22291397	3	4	275	1	0	0	0	0	1	0	0	0	18058	884	31	1	291	1	ZNF645	23	22291397	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	403753	22291397	132979163	1411	142476											
PTCHD1	139411	broad.mit.edu	37	chrX	23411097	23411097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctattggtatgtttcctcAaacgctattactgtgactgg	8	9	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:23411097A>G	uc004dal.3	+	3	1470	c.1462A>G	c.(1462-1464)AAA>GAA	p.K488E		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	488					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						ATGTTTCCTCAAACGCTATTA	0.443													G	23411097	A	G	23411097	3	3	275	1	0	0	0	0	1	0	0	0	12732	131	5	3	1472	3	PTCHD1	23	23411097	Missense_Mutation	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	1119700	23411097	131859463	1412	142477											
NR0B1	190	broad.mit.edu	37	chrX	30327182	30327182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccagcacggacccagcGtcgcctcgggcgccttcggt	13	18	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:30327182G>A	uc004dcf.3	-	1	314	c.299C>T	c.(298-300)ACG>ATG	p.T100M		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	100	4 X 67 AA tandem repeats.|2.				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			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGACCCAGCGTCGCCTCGGG	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30327182	G	A	30327182	3	1	275	1	0	0	0	0	1	0	0	0	10613	1145	40	1	1121	1	NR0B1	23	30327182	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	6916085	30327182	124943378	1413	142478											
DMD	1756	broad.mit.edu	37	chrX	31496273	31496273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatgaggagatcgcccaCgggctgccaggatcccttga	13	12	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:31496273C>T	uc004dda.1	-	59	9131	c.8887G>A	c.(8887-8889)GTG>ATG	p.V2963M	DMD_uc004dcq.1_Missense_Mutation_p.V234M|DMD_uc004dcr.1_Missense_Mutation_p.V503M|DMD_uc004dcs.1_Missense_Mutation_p.V503M|DMD_uc004dct.1_Missense_Mutation_p.V503M|DMD_uc004dcu.1_Missense_Mutation_p.V503M|DMD_uc004dcv.1_Missense_Mutation_p.V503M|DMD_uc004dcw.2_Missense_Mutation_p.V1619M|DMD_uc004dcx.2_Missense_Mutation_p.V1622M|DMD_uc004dcz.2_Missense_Mutation_p.V2840M|DMD_uc004dcy.1_Missense_Mutation_p.V2959M|DMD_uc004ddb.1_Missense_Mutation_p.V2955M	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2963	Spectrin 22.				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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				AGATCGCCCACGGGCTGCCAG	0.537													T	31496273	C	T	31496273	3	4	275	1	0	0	0	0	1	0	0	0	4580	536	19	1	2368	1	DMD	23	31496273	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1169091	31496273	123774287	1414	142479											
FAM47A	158724	broad.mit.edu	37	chrX	34148203	34148203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaattggtccataaagatcGtcaagaacgtcaggttcatc	9	9	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:34148203G>A	uc004ddg.2	-	1	2226	c.2193C>T	c.(2191-2193)GAC>GAT	p.D731D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	731										ovary(4)|central_nervous_system(1)	5						CATAAAGATCGTCAAGAACGT	0.433													A	34148203	G	A	34148203	2	1	275	1	0	0	0	0	0	0	0	1	5569	1136	40	1		1	FAM47A	23	34148203	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2651930	34148203	121122357	1415	142480											
TMEM47	83604	broad.mit.edu	37	chrX	34648577	34648577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaatgaacttgattggGtaaaggaccaggctgcaaac	11	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:34648577G>A	uc004ddh.2	-	3	658	c.399C>T	c.(397-399)TAC>TAT	p.Y133Y	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	133	Helical; (Potential).					integral to membrane				lung(1)	1						ACTTGATTGGGTAAAGGACCA	0.363													A	34648577	G	A	34648577	2	1	275	1	0	0	0	0	0	0	0	1	16168	1256	44	4		4	TMEM47	23	34648577	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	500374	34648577	120621983	1416	142481											
BCOR	54880	broad.mit.edu	37	chrX	39916518	39916518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggcgcagtaacctgcGttgtcccgatgatttacatc	11	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:39916518G>A	uc004den.3	-	11	4777	c.4485C>T	c.(4483-4485)AAC>AAT	p.N1495N	BCOR_uc004dep.3_Silent_p.N1461N|BCOR_uc004deo.3_Silent_p.N1443N|BCOR_uc010nhb.2_Silent_p.N203N|BCOR_uc004dem.3_Silent_p.N1461N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1495	ANK 1.				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			ovary(2)|kidney(1)|central_nervous_system(1)	4						AGTAACCTGCGTTGTCCCGAT	0.517													A	39916518	G	A	39916518	2	1	275	1	0	0	0	0	0	0	0	1	1386	1136	40	1		1	BCOR	23	39916518	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5267941	39916518	115354042	1417	142482											
DDX3X	1654	broad.mit.edu	37	chrX	41205517	41205517	+	Frame_Shift_Del	DEL	A	A	-													ccttagtgtttgtggagaccAaaaagggtgcagattctctg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:41205516_41205516CA>C	uc004dfe.3	+	12	2205	c.1350_1350CA>C	c.(1348-1350)accfs	p.T450fs	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Frame_Shift_Del_p.T450fs|DDX3X_uc011mkq.2_Frame_Shift_Del_p.T434fs|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	450	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.E449*(2)		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						TTGTGGAGACCAAAAAGGGTG	0.438										HNSCC(61;0.18)			-	41205517	A	-	41205517	7	5	275	1	0	1	0	1	0	0	0	0	4358	131	5	0	1401	0	DDX3X	23	41205517	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	1288999	41205517	114065043	1418	142483											
UBA1	7317	broad.mit.edu	37	chrX	47060960	47060960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctccttttcagaagtacaGggcatggttgaactcaacgg	11	9	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:47060960G>T	uc004dhj.3	+	8	913	c.762G>T	c.(760-762)CAG>CAT	p.Q254H	UBA1_uc004dhk.3_Missense_Mutation_p.Q254H	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	254	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						CAGAAGTACAGGGCATGGTTG	0.537													T	47060960	G	T	47060960	3	4	275	1	0	0	0	0	1	0	0	0	16824	991	35	5	788	5	UBA1	23	47060960	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5855443	47060960	108209600	1419	142484											
ZNF182	7569	broad.mit.edu	37	chrX	47842802	47842802	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagctacatcttcaaatgTcactagcccctgtaatggta	6	12	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:47842802T>C	uc004dir.2	-	5	428	c.82A>G	c.(82-84)ACA>GCA	p.T28A	ZNF182_uc004dis.2_Missense_Mutation_p.T9A|ZNF182_uc004dit.2_Missense_Mutation_p.T28A|ZNF182_uc011mlu.1_Missense_Mutation_p.T9A|ZNF630_uc010nhz.1_RNA	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TCTTCAAATGTCACTAGCCCC	0.468													C	47842802	T	C	47842802	3	2	275	1	0	0	0	0	1	0	0	0	17747	1667	58	3	1849	3	ZNF182	23	47842802	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	781842	47842802	107427758	1420	142485											
NUDT11	55190	broad.mit.edu	37	chrX	51239053	51239053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggttctgttcgaagaCgcccaggagccggcctaact	11	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:51239053C>T	uc010njt.2	-	1	407	c.244G>A	c.(244-246)GTC>ATC	p.V82I		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	nudix-type motif 11	82	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					TGTTCGAAGACGCCCAGGAGC	0.617										HNSCC(48;0.14)			T	51239053	C	T	51239053	3	4	275	1	0	0	0	0	1	0	0	0	10727	536	19	1	258	1	NUDT11	23	51239053	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	3396251	51239053	104031507	1421	142486											
GPR173	54328	broad.mit.edu	37	chrX	53106555	53106555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatcgccggctttggccGtgggcccatgccaccaaccc	12	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:53106555G>A	uc004dru.2	+	2	1010	c.752G>A	c.(751-753)CGT>CAT	p.R251H		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	251	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GGCTTTGGCCGTGGGCCCATG	0.647													A	53106555	G	A	53106555	3	1	275	1	0	0	0	0	1	0	0	0	6671	1145	40	1	754	1	GPR173	23	53106555	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1867502	53106555	102164005	1422	142487											
PFKFB1	5207	broad.mit.edu	37	chrX	54978349	54978349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccctacctgcttgccgcGaactgagaggccagagtcac	10	16	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:54978349G>A	uc004dty.1	-	8	906	c.835C>T	c.(835-837)CGC>TGC	p.R279C	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.R214C	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	279	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TGCTTGCCGCGAACTGAGAGG	0.592													A	54978349	G	A	54978349	3	1	275	1	0	0	0	0	1	0	0	0	11760	1058	37	1	608	1	PFKFB1	23	54978349	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1871794	54978349	100292211	1423	142488											
RRAGB	10325	broad.mit.edu	37	chrX	55777621	55777621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctatctgggatgaaaccCtctataaggtgtgtatgtct	9	8	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:55777621C>A	uc004dup.2	+	7	1339	c.688C>A	c.(688-690)CTC>ATC	p.L230I	RRAGB_uc004duq.2_Missense_Mutation_p.L202I	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	230					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						GGATGAAACCCTCTATAAGGT	0.348													A	55777621	C	A	55777621	3	1	275	1	0	0	0	0	1	0	0	0	13673	681	24	5	714	5	RRAGB	23	55777621	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	799272	55777621	99492939	1424	142489											
P2RY4	5030	broad.mit.edu	37	chrX	69478463	69478463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatcctcaggcagggacaCtagtgccagggaagaggcag	15	10	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:69478463C>A	uc004dxz.1	-	1	1192	c.1012G>T	c.(1012-1014)GTG>TTG	p.V338L		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	338	Cytoplasmic (Potential).			SSLALVSLPEDSSCRWAATPQDSSCST->AALALVALPEDA ACRWAAAPQDAACAA: Greatly reduces agonist- induced desensitization and loss of cell surface receptors.|Missing: Abolishes agonist-induced phosphorylation. Prevents agonist-induced desensitization and loss of cell surface receptors.	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						GGCAGGGACACTAGTGCCAGG	0.622													A	69478463	C	A	69478463	3	1	275	1	0	0	0	0	1	0	0	0	11353	565	20	5	89	5	P2RY4	23	69478463	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	13700842	69478463	85792097	1425	142490											
MED12	9968	broad.mit.edu	37	chrX	70341237	70341237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtgttttgagaagatcCgccctggagaggatgaattg	14	5	0	5			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70341237C>T	uc004dyy.2	+	6	995	c.796C>T	c.(796-798)CGC>TGC	p.R266C	MED12_uc011mpq.1_Missense_Mutation_p.R266C|MED12_uc004dyz.2_Missense_Mutation_p.R266C|MED12_uc004dza.2_Missense_Mutation_p.R113C	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	266					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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGAGAAGATCCGCCCTGGAGA	0.512													T	70341237	C	T	70341237	3	4	275	1	0	0	0	0	1	0	0	0	9428	652	23	1	818	1	MED12	23	70341237	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	862774	70341237	84929323	1426	142491											
TAF1	6872	broad.mit.edu	37	chrX	70586333	70586333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctggagggggaaagcGtcttggatgatgtgaggggg	22	4	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70586333G>A	uc004dzu.3	+	1	220	c.169G>A	c.(169-171)GTC>ATC	p.V57I	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.V57I	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	57	Protein kinase 1.				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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GGGGGAAAGCGTCTTGGATGA	0.627													A	70586333	G	A	70586333	3	1	275	1	0	0	0	0	1	0	0	0	15510	1145	40	1	171	1	TAF1	23	70586333	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	245096	70586333	84684227	1427	142492											
TAF1	6872	broad.mit.edu	37	chrX	70603000	70603001	+	Frame_Shift_Ins	INS	-	-	A													acctttgctaaagcacatcaINSaaaaaaaggccaaggtataa							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70602999_70603000C>CA	uc004dzu.4	+	11	1980_1981	c.1929_1930C>CA	c.(1927-1932)atcaaafs	p.I643fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Ins_p.I664fs	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	643					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|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|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA 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)				TAAAGCACATCAAAAAAAAGGC	0.406													A	70603001	-	A	70603000	7	5	275	1	0	1	1	0	0	0	0	0	15510	131	5	0	2039	0	TAF1	23	70603000	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	16667	70603000	84667560	1428	142493											
OGT	8473	broad.mit.edu	37	chrX	70787390	70787390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtactctggctgttgcGttttccagcagtaggagaac	12	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:70787390G>A	uc004eaa.1	+	20	2847	c.2630G>A	c.(2629-2631)CGT>CAT	p.R877H	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.R867H|OGT_uc004eac.2_Missense_Mutation_p.R738H|OGT_uc004ead.2_Missense_Mutation_p.R496H	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	877					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			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TGGCTGTTGCGTTTTCCAGCA	0.393													A	70787390	G	A	70787390	3	1	275	1	0	0	0	0	1	0	0	0	10847	1145	40	1	2708	1	OGT	23	70787390	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	184390	70787390	84483170	1429	142494											
RGAG4	340526	broad.mit.edu	37	chrX	71349880	71349880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattctggttcctccgtctgCtaggctgtattatgggaggt	13	8	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:71349880C>T	uc010nlh.1	-	1	1872	c.1511G>A	c.(1510-1512)AGC>AAC	p.S504N	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	504										ovary(2)|skin(1)	3	Renal(35;0.156)					CCTCCGTCTGCTAGGCTGTAT	0.562													T	71349880	C	T	71349880	3	4	275	1	0	0	0	0	1	0	0	0	13275	797	28	2	202	2	RGAG4	23	71349880	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	562490	71349880	83920680	1430	142495											
NHSL2	340527	broad.mit.edu	37	chrX	71358762	71358762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggatgcagtgggtcagCtggctaccctgagcgcctta	14	11	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:71358762C>T	uc011mqa.1	+	6	1364	c.1364C>T	c.(1363-1365)GCT>GTT	p.A455V	NHSL2_uc004eak.1_Missense_Mutation_p.A89V|NHSL2_uc010nli.2_Missense_Mutation_p.A224V	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	455											0	Renal(35;0.156)					AGTGGGTCAGCTGGCTACCCT	0.567													T	71358762	C	T	71358762	3	4	275	1	0	0	0	0	1	0	0	0	10412	797	28	2	1386	2	NHSL2	23	71358762	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	8882	71358762	83911798	1431	142496											
PHKA1	5255	broad.mit.edu	37	chrX	71873292	71873292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgactcaccctgtcaGgaggaacactgtacagctct	9	13	4	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:71873292G>A	uc004eax.3	-	11	1431	c.1130C>T	c.(1129-1131)CCT>CTT	p.P377L	PHKA1_uc004eay.3_Missense_Mutation_p.P377L|PHKA1_uc011mqi.1_Missense_Mutation_p.P377L	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	377					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CACCCTGTCAGGAGGAACACT	0.428													A	71873292	G	A	71873292	3	1	275	1	0	0	0	0	1	0	0	0	11843	1000	35	4	2629	4	PHKA1	23	71873292	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	514530	71873292	83397268	1432	142497											
KIAA2022	340533	broad.mit.edu	37	chrX	73963374	73963374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaggtagtaaagacgcTgggaaaaaagttgaattggg	17	3	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:73963374T>C	uc004eby.2	-	3	1635	c.1018A>G	c.(1018-1020)AGC>GGC	p.S340G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	340					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GTAAAGACGCTGGGAAAAAAG	0.463													C	73963374	T	C	73963374	3	2	275	1	0	0	0	0	1	0	0	0	8269	1580	55	3	3540	3	KIAA2022	23	73963374	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	2090082	73963374	81307186	1433	142498											
POU3F4	5456	broad.mit.edu	37	chrX	82763850	82763850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagagcccccggatcacgGcgaactgggctcgcaccatt	12	16	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:82763850G>A	uc004eeg.2	+	1	582	c.518G>A	c.(517-519)GGC>GAC	p.G173D		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	173					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGGATCACGGCGAACTGGGC	0.607													A	82763850	G	A	82763850	3	1	275	1	0	0	0	0	1	0	0	0	12277	1203	42	2	520	2	POU3F4	23	82763850	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	8800476	82763850	72506710	1434	142499											
CHM	1121	broad.mit.edu	37	chrX	85211332	85211332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatatattggaggttgGgggttaatttttgagtcttt	12	2	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:85211332G>T	uc004eet.2	-	8	1022	c.992C>A	c.(991-993)CCC>CAC	p.P331H	CHM_uc011mqz.1_Missense_Mutation_p.P183H	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	331					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				TTGGAGGTTGGGGGTTAATTT	0.328													T	85211332	G	T	85211332	3	4	275	1	0	0	0	0	1	0	0	0	3350	1232	43	5	1001	5	CHM	23	85211332	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2447482	85211332	70059228	1435	142500											
CPXCR1	53336	broad.mit.edu	37	chrX	88008656	88008656	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagatccaaaaagatcaaCgagaagaagatctaaaagaa	8	6	2	6			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:88008656C>T	uc004efd.3	+	3	500	c.241C>T	c.(241-243)CGA>TGA	p.R81*	CPXCR1_uc004efc.3_Nonsense_Mutation_p.R81*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	81						intracellular	zinc ion binding			ovary(3)	3						AAAAGATCAACGAGAAGAAGA	0.458													T	88008656	C	T	88008656	4	4	275	1	0	0	0	0	0	1	0	0	3836	528	19	1	243	1	CPXCR1	23	88008656	Nonsense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2797324	88008656	67261904	1436	142501											
PABPC5	140886	broad.mit.edu	37	chrX	90691323	90691323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgagatatgagacacaCgaggctgcccaaaaggctgt	12	8	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:90691323C>T	uc004efg.2	+	2	1187	c.747C>T	c.(745-747)CAC>CAT	p.H249H	PABPC5_uc004eff.1_Silent_p.H85H	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	249	RRM 3.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						ATGAGACACACGAGGCTGCCC	0.453													T	90691323	C	T	90691323	2	4	275	1	0	0	0	0	0	0	0	1	11367	535	19	1		1	PABPC5	23	90691323	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2682667	90691323	64579237	1437	142502											
SYTL4	94121	broad.mit.edu	37	chrX	99931117	99931117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgcatcttctgccacaGgctcacttcttccccagtcg	7	17	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:99931117G>T	uc004egd.3	-	19	2280	c.1924C>A	c.(1924-1926)CTG>ATG	p.L642M	SYTL4_uc004egc.2_Missense_Mutation_p.L73M|SYTL4_uc010nnb.2_Missense_Mutation_p.L314M|SYTL4_uc010nnc.2_Missense_Mutation_p.L642M|SYTL4_uc004ege.3_Missense_Mutation_p.L642M|SYTL4_uc004egf.3_Missense_Mutation_p.L642M	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	642					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCCACAGGCTCACTTCT	0.562													T	99931117	G	T	99931117	3	4	275	1	0	0	0	0	1	0	0	0	15482	991	35	5	95	5	SYTL4	23	99931117	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	9239794	99931117	55339443	1438	142503											
ZMAT1	84460	broad.mit.edu	37	chrX	101138596	101138596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcggagggtacatcatgGctttttttcttttttcgatg	9	7	3	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:101138596G>A	uc004eim.2	-	2	4788	c.1290C>T	c.(1288-1290)AGC>AGT	p.S430S	ZMAT1_uc011mrl.1_Silent_p.S601S|ZMAT1_uc004ein.2_Silent_p.S430S|ZMAT1_uc011mrm.1_Silent_p.S430S	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	430						nucleus	zinc ion binding			ovary(1)	1						GTACATCATGGCTTTTTTTCT	0.398													A	101138596	G	A	101138596	2	1	275	1	0	0	0	0	0	0	0	1	17688	1194	42	2		2	ZMAT1	23	101138596	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1207479	101138596	54131964	1439	142504											
GPRASP1	9737	broad.mit.edu	37	chrX	101912159	101912159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgcttcagcctgatcaGcctagtcctgagttcccatt	7	13	3	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:101912159G>A	uc004ejj.3	+	5	4119	c.3318G>A	c.(3316-3318)CAG>CAA	p.Q1106Q	GPRASP1_uc004eji.3_Silent_p.Q1106Q|GPRASP1_uc010nod.2_Silent_p.Q1106Q	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1106	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AGCCTGATCAGCCTAGTCCTG	0.483													A	101912159	G	A	101912159	2	1	275	1	0	0	0	0	0	0	0	1	6722	962	34	2		2	GPRASP1	23	101912159	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	773563	101912159	53358401	1440	142505											
BEX1	55859	broad.mit.edu	37	chrX	102318161	102318161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttggttggcattttcCatgctgagactgtttactgc	9	8	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:102318161C>T	uc004ejt.1	-	3	282	c.42G>A	c.(40-42)ATG>ATA	p.M14I		NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	14					cell differentiation|nervous system development	cytoplasm|nucleus				ovary(1)	1						TGGCATTTTCCATGCTGAGAC	0.478													T	102318161	C	T	102318161	3	4	275	1	0	0	0	0	1	0	0	0	1410	594	21	4	339	4	BEX1	23	102318161	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	406002	102318161	52952399	1441	142506											
RAB9B	51209	broad.mit.edu	37	chrX	103080513	103080513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctaaggctcttgaaacGttcctgccctgcagtgtccc	9	14	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:103080513G>A	uc004ell.1	-	3	487	c.202C>T	c.(202-204)CGT>TGT	p.R68C	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	68					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						CTCTTGAAACGTTCCTGCCCT	0.522													A	103080513	G	A	103080513	3	1	275	1	0	0	0	0	1	0	0	0	12959	1145	40	1	407	1	RAB9B	23	103080513	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	762352	103080513	52190047	1442	142507											
MCART6	401612	broad.mit.edu	37	chrX	103349129	103349129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgactagggagcctccaCggtagatcaggagcagcttt	14	9	1	2	rs141959264	byFrequency	TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:103349129C>T	uc004elu.2	-	2	993	c.812G>A	c.(811-813)CGT>CAT	p.R271H		NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	mitochondrial carrier triple repeat 6	271	Solcar 3.|Helical; Name=6; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0						GGAGCCTCCACGGTAGATCAG	0.557													T	103349129	C	T	103349129	3	4	275	1	0	0	0	0	1	0	0	0	9371	536	19	1	115	1	MCART6	23	103349129	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	268616	103349129	51921431	1443	142508											
MUM1L1	139221	broad.mit.edu	37	chrX	105449632	105449632	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgaagccattgctgcctcAttaggactacagtcagagga	10	9	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:105449632A>G	uc004emf.1	+	4	856	c.207A>G	c.(205-207)TCA>TCG	p.S69S	MUM1L1_uc004emg.1_Silent_p.S69S	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	69										ovary(2)|pancreas(1)|skin(1)	4						TTGCTGCCTCATTAGGACTAC	0.388													G	105449632	A	G	105449632	2	3	275	1	0	0	0	0	0	0	0	1	9986	204	8	3		3	MUM1L1	23	105449632	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	2100503	105449632	49820928	1444	142509											
MORC4	79710	broad.mit.edu	37	chrX	106236506	106236506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcatcccacatccatcatCggtaaaggtcaaacaagatt	6	11	3	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:106236506C>T	uc004emu.3	-	3	505	c.262G>A	c.(262-264)GAT>AAT	p.D88N	MORC4_uc004emp.3_5'UTR|MORC4_uc004emv.3_Missense_Mutation_p.D88N|MORC4_uc004emw.3_5'UTR	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	88							ATP binding|zinc ion binding			ovary(1)	1						CATCCATCATCGGTAAAGGTC	0.388													T	106236506	C	T	106236506	3	4	275	1	0	0	0	0	1	0	0	0	9704	884	31	1	2611	1	MORC4	23	106236506	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	786874	106236506	49034054	1445	142510											
IRS4	8471	broad.mit.edu	37	chrX	107976125	107976125	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtcaaatccagcagctgcGgctgctgcgccgatgcccgg	14	14	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:107976125G>T	uc004eoc.2	-	1	3483	c.3450C>A	c.(3448-3450)GCC>GCA	p.A1150A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1150	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CAGCAGCTGCGGCTGCTGCGC	0.657													T	107976125	G	T	107976125	2	4	275	1	0	0	0	0	0	0	0	1	7842	1103	39	5		5	IRS4	23	107976125	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1739619	107976125	47294435	1446	142511											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|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													C	107977804	-	C	107977803	7	5	275	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	1678	107977803	47292757	1447	142512											
AMMECR1	9949	broad.mit.edu	37	chrX	109561047	109561047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcggaggtggcgacaGggcgatccccccgccgccgc	16	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:109561047G>A	uc004eoo.2	-	1	334	c.253C>T	c.(253-255)CTG>TTG	p.L85L	AMMECR1_uc004eop.2_Silent_p.L85L|AMMECR1_uc004eoq.2_5'UTR	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	85											0						GGTGGCGACAGGGCGATCCCC	0.721													A	109561047	G	A	109561047	2	1	275	1	0	0	0	0	0	0	0	1	578	991	35	4		4	AMMECR1	23	109561047	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	1583244	109561047	45709513	1448	142513											
LHFPL1	340596	broad.mit.edu	37	chrX	111914299	111914299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgagctcctccatgCagcaacccaggacagcagct	11	13	0	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:111914299C>T	uc004epq.2	-	2	653	c.320G>A	c.(319-321)TGC>TAC	p.C107Y	LHFPL1_uc004epp.2_Missense_Mutation_p.C130Y|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.C107Y	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	107						integral to membrane					0						CTCCTCCATGCAGCAACCCAG	0.582													T	111914299	C	T	111914299	3	4	275	1	0	0	0	0	1	0	0	0	8764	710	25	2	354	2	LHFPL1	23	111914299	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	2353252	111914299	43356261	1449	142514											
ZBTB33	10009	broad.mit.edu	37	chrX	119387796	119387796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctttttcattatctgccGaagattatgaaatgaaaaag	7	5	3	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:119387796G>A	uc004esn.1	+	2	754	c.526G>A	c.(526-528)GAA>AAA	p.E176K	ZBTB33_uc010nqm.1_Missense_Mutation_p.E176K	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	176					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTATCTGCCGAAGATTATGA	0.333													A	119387796	G	A	119387796	3	1	275	1	0	0	0	0	1	0	0	0	17533	1059	37	1	528	1	ZBTB33	23	119387796	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	7473497	119387796	35882764	1450	142515											
THOC2	57187	broad.mit.edu	37	chrX	122799612	122799612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcaaatcttcaaagcTctcagcttgttttggtgctc	6	12	5	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:122799612T>C	uc004etu.2	-	12	1299	c.1267A>G	c.(1267-1269)AGC>GGC	p.S423G	THOC2_uc011muh.1_Missense_Mutation_p.S344G|THOC2_uc011mui.1_Missense_Mutation_p.S308G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	423					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TCTTCAAAGCTCTCAGCTTGT	0.388													C	122799612	T	C	122799612	3	2	275	1	0	0	0	0	1	0	0	0	15862	1551	54	3	3622	3	THOC2	23	122799612	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	3411816	122799612	32470948	1451	142516											
ODZ1	10178	broad.mit.edu	37	chrX	123554484	123554484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttccatttacagtgaaCtggtacagttcctgatcagc	10	9	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:123554484C>T	uc004euj.2	-	24	4702	c.4638G>A	c.(4636-4638)CAG>CAA	p.Q1546Q	ODZ1_uc011muj.1_Silent_p.Q1552Q|ODZ1_uc010nqy.2_Silent_p.Q1553Q	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1546	YD 1.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTACAGTGAACTGGTACAGTT	0.443													T	123554484	C	T	123554484	2	4	275	1	0	0	0	0	0	0	0	1	10834	564	20	4		4	ODZ1	23	123554484	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	754872	123554484	31716076	1452	142517											
SMARCA1	6594	broad.mit.edu	37	chrX	128614736	128614736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaggagctcaaataagCgtggtgggaaaaattgaaaa	11	5	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:128614736C>T	uc004eun.3	-	19	2497	c.2384G>A	c.(2383-2385)CGC>CAC	p.R795H	SMARCA1_uc004eup.3_Missense_Mutation_p.R783H|SMARCA1_uc011muk.1_Missense_Mutation_p.R795H|SMARCA1_uc011mul.1_Missense_Mutation_p.R783H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	795					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			ovary(3)|skin(1)	4						CTCAAATAAGCGTGGTGGGAA	0.313													T	128614736	C	T	128614736	3	4	275	1	0	0	0	0	1	0	0	0	14768	768	27	1	804	1	SMARCA1	23	128614736	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	5060252	128614736	26655824	1453	142518											
SASH3	54440	broad.mit.edu	37	chrX	128927705	128927705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaaggtggacatcccgcGcgactcaggctgctttgagg	13	13	1	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:128927705G>A	uc011mun.1	+	8	1222	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H	SASH3_uc004euu.2_Missense_Mutation_p.R347H|SASH3_uc011muo.1_Missense_Mutation_p.R314H	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	347										ovary(2)|pancreas(1)	3						GACATCCCGCGCGACTCAGGC	0.677													A	128927705	G	A	128927705	3	1	275	1	0	0	0	0	1	0	0	0	13849	1087	38	1	1070	1	SASH3	23	128927705	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	312969	128927705	26342855	1454	142519											
FHL1	2273	broad.mit.edu	37	chrX	135289289	135289290	+	Frame_Shift_Ins	INS	-	-	A													caacaagatcctgtgcaacaINSagtgcaccactcgggaggac							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:135289288_135289289C>CA	uc004ezo.3	+	3	599_600	c.270_271C>CA	c.(268-273)aacaagfs	p.N90fs	FHL1_uc010nrz.2_Frame_Shift_Ins_p.N90fs|FHL1_uc004ezq.2_Frame_Shift_Ins_p.N90fs|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Frame_Shift_Ins_p.N90fs|FHL1_uc011mvy.1_Frame_Shift_Ins_p.N90fs|FHL1_uc004ezn.2_Frame_Shift_Ins_p.N90fs|FHL1_uc022ceu.1_Frame_Shift_Ins_p.N90fs|FHL1_uc011mwa.1_Frame_Shift_Ins_p.N119fs|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Frame_Shift_Ins_p.N106fs|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	90	LIM zinc-binding 1.			VAKDNKILCNK -> CGQGQQRSCAQ (in Ref. 4; AAD21579).	cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			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)					TCCTGTGCAACAAGTGCACCAC	0.599													A	135289290	-	A	135289289	7	5	275	1	0	1	1	0	0	0	0	0	5878	131	5	0	394	0	FHL1	23	135289289	Frame_Shift_Ins	INS	-	TCGA-HU-A4GX-01A-12D-A25D-08	6361584	135289289	19981271	1455	142520											
MAP7D3	79649	broad.mit.edu	37	chrX	135328224	135328224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaggtctaaaatatacCgtcttgctgtctccttttct	5	9	4	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:135328224C>T	uc004ezt.2	-	3	344	c.253G>A	c.(253-255)GCC>ACC	p.A85T	MAP7D3_uc004ezs.2_Missense_Mutation_p.A84T|MAP7D3_uc011mwc.1_Missense_Mutation_p.A67T|MAP7D3_uc010nsa.1_Missense_Mutation_p.A84T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	85	Potential.					cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TAAAATATACCGTCTTGCTGT	0.289													T	135328224	C	T	135328224	3	4	275	1	0	0	0	0	1	0	0	0	9269	666	23	1	2441	1	MAP7D3	23	135328224	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	38935	135328224	19942336	1456	142521											
ZIC3	7547	broad.mit.edu	37	chrX	136649822	136649822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatccgagtgcacacgggCgagaagcccttcccatgccc	10	17	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:136649822C>T	uc004fak.2	+	1	1477	c.972C>T	c.(970-972)GGC>GGT	p.G324G		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	324					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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TGCACACGGGCGAGAAGCCCT	0.572													T	136649822	C	T	136649822	2	4	275	1	0	0	0	0	0	0	0	1	17677	755	27	1		1	ZIC3	23	136649822	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	1321598	136649822	18620738	1457	142522											
SOX3	6658	broad.mit.edu	37	chrX	139586357	139586357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcgggcggcggcggcGggctgctcatgctcgggggc	22	13	1	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:139586357G>A	uc004fbd.1	-	1	869	c.869C>T	c.(868-870)CCG>CTG	p.P290L		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	290	Poly-Pro.				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			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					cggcggcggcgggcTGCTCAT	0.552													A	139586357	G	A	139586357	3	1	275	1	0	0	0	0	1	0	0	0	14951	1116	39	1	475	1	SOX3	23	139586357	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	2936535	139586357	15684203	1458	142523											
SLITRK2	84631	broad.mit.edu	37	chrX	144905987	144905987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcacgataaaacagacGgccatgtctacaactatatc	6	11	2	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:144905987G>A	uc004fcd.2	+	5	3034	c.2044G>A	c.(2044-2046)GGC>AGC	p.G682S	SLITRK2_uc010nsp.2_Missense_Mutation_p.G682S|SLITRK2_uc010nso.2_Missense_Mutation_p.G682S|SLITRK2_uc011mwq.1_Missense_Mutation_p.G682S|SLITRK2_uc011mwr.1_Missense_Mutation_p.G682S|SLITRK2_uc011mws.1_Missense_Mutation_p.G682S|SLITRK2_uc004fcg.2_Missense_Mutation_p.G682S|SLITRK2_uc011mwt.1_Missense_Mutation_p.G682S|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	682	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAACAGACGGCCATGTCTA	0.488													A	144905987	G	A	144905987	3	1	275	1	0	0	0	0	1	0	0	0	14743	1116	39	1	2046	1	SLITRK2	23	144905987	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	5319630	144905987	10364573	1459	142524											
AFF2	2334	broad.mit.edu	37	chrX	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-													aacaagaccgtagtgcacttAaaaaaagggaatgggagcgg							TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:147733547_147733547TA>T	uc004fcp.3	+	1	554	c.75_75TA>T	c.(73-75)cttfs	p.L25fs	AFF2_uc004fco.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcq.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.L25fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.L25fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.L25fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	25					RNA splicing|brain development|mRNA processing|regulation of 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)					GTAGTGCACTTAAAAAAAGGG	0.378													-	147733548	A	-	147733548	7	5	275	1	0	1	0	1	0	0	0	0	357	363	13	0	82	0	AFF2	23	147733548	Frame_Shift_Del	DEL	A	TCGA-HU-A4GX-01A-12D-A25D-08	2827561	147733548	7537012	1460	142525											
AFF2	2334	broad.mit.edu	37	chrX	148059471	148059471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcaaaggtatgcaaTgaggctgaagaactttgcaa	9	7	2	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:148059471T>C	uc004fcp.2	+	17	3892	c.3413T>C	c.(3412-3414)ATG>ACG	p.M1138T	AFF2_uc004fcq.2_Missense_Mutation_p.M1128T|AFF2_uc004fcr.2_Missense_Mutation_p.M1099T|AFF2_uc011mxb.1_Missense_Mutation_p.M1103T|AFF2_uc004fcs.2_Missense_Mutation_p.M1103T|AFF2_uc011mxc.1_Missense_Mutation_p.M779T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1138					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTATGCAATGAGGCTGAAG	0.423													C	148059471	T	C	148059471	3	2	275	1	0	0	0	0	1	0	0	0	357	1464	51	3	3534	3	AFF2	23	148059471	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	325923	148059471	7211089	1461	142526											
IDS	3423	broad.mit.edu	37	chrX	148585690	148585690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttcccagacatacctgCgcaaaggcattctggaagag	12	10	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:148585690C>T	uc011mxe.1	-	2	435	c.237G>A	c.(235-237)GCG>GCA	p.A79A	IDS_uc011mxf.1_Missense_Mutation_p.R4H|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Silent_p.A79A|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Silent_p.A79A	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	79			A -> E (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACATACCTGCGCAAAGGCAT	0.572													T	148585690	C	T	148585690	2	4	275	1	0	0	0	0	0	0	0	1	7503	768	27	1		1	IDS	23	148585690	Silent	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	526219	148585690	6684870	1462	142527											
MAGEA8	4107	broad.mit.edu	37	chrX	149012986	149012986	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcctctctccccaggcCtgtgggtctcaattgcccag	9	17	2	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:149012986C>A	uc004fdw.1	+	3	155	c.-60C>A	c.(-62--58)GCCTG>GCATG			NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8												0	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCCAGGCCTGTGGGTCTC	0.572													A	149012986	C	A	149012986	1	1	275	1	0	0	0	0	0	0	0	0	9171	696	24	5		5	MAGEA8	23	149012986	Translation_Start_Site	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	427296	149012986	6257574	1463	142528											
PNMA3	29944	broad.mit.edu	37	chrX	152226687	152226687	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagacggccacatcagggtAcagtgcatcaacccctccaa	9	14	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:152226687A>G	uc004fhc.2	+	2	1611	c.1275A>G	c.(1273-1275)GTA>GTG	p.V425V	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	425	CCHC-type.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACATCAGGGTACAGTGCATCA	0.562													G	152226687	A	G	152226687	2	3	275	1	0	0	0	0	0	0	0	1	12155	378	14	3		3	PNMA3	23	152226687	Silent	SNP	A	TCGA-HU-A4GX-01A-12D-A25D-08	3213701	152226687	3043873	1464	142529											
ZNF275	10838	broad.mit.edu	37	chrX	152612323	152612323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagggggaagatgcccaGccacaggagatggcgtccac	15	10	0	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:152612323G>A	uc004fhg.1	+	4	357	c.180G>A	c.(178-180)CAG>CAA	p.Q60Q	ZNF275_uc011mym.1_Silent_p.Q60Q|ZNF275_uc011myn.1_5'UTR			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	60						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGATGCCCAGCCACAGGAGA	0.582													A	152612323	G	A	152612323	2	1	275	1	0	0	0	0	0	0	0	1	17807	962	34	2		2	ZNF275	23	152612323	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	385636	152612323	2658237	1465	142530											
ZNF275	10838	broad.mit.edu	37	chrX	152612855	152612855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacttcggaaaagcctttcGcctgcaaggcgtgcagcagg	12	12	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:152612855G>A	uc004fhg.1	+	4	889	c.712G>A	c.(712-714)GCC>ACC	p.A238T	ZNF275_uc011mym.1_Missense_Mutation_p.A238T|ZNF275_uc011myn.1_Missense_Mutation_p.A175T			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	238						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCCTTTCGCCTGCAAGGC	0.577													A	152612855	G	A	152612855	3	1	275	1	0	0	0	0	1	0	0	0	17807	1087	38	1	722	1	ZNF275	23	152612855	Missense_Mutation	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	532	152612855	2657705	1466	142531											
FLNA	2316	broad.mit.edu	37	chrX	153578054	153578054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggctgcccccaatgtgGtaggggccgccgtacttgat	15	11	0	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153578054G>A	uc004fkk.2	-	46	7764	c.7515C>T	c.(7513-7515)TAC>TAT	p.Y2505Y	FLNA_uc004fki.2_Silent_p.Y545Y|FLNA_uc011mzn.1_Silent_p.Y638Y|FLNA_uc010nuu.1_Silent_p.Y2497Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2505	Filamin 23.				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)					CCCCAATGTGGTAGGGGCCGC	0.617													A	153578054	G	A	153578054	2	1	275	1	0	0	0	0	0	0	0	1	5933	1256	44	4		4	FLNA	23	153578054	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	965199	153578054	1692506	1467	142532											
GDI1	2664	broad.mit.edu	37	chrX	153667454	153667454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcaagatctacaaagTgccgtccactgagactgagg	15	9	1	3			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153667454T>C	uc004fli.3	+	4	698	c.356T>C	c.(355-357)GTG>GCG	p.V119A	GDI1_uc011mzo.1_Missense_Mutation_p.V119A|GDI1_uc004flj.2_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	119					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	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)					ATCTACAAAGTGCCGTCCACT	0.557													C	153667454	T	C	153667454	3	2	275	1	0	0	0	0	1	0	0	0	6320	1696	59	3	370	3	GDI1	23	153667454	Missense_Mutation	SNP	T	TCGA-HU-A4GX-01A-12D-A25D-08	89400	153667454	1603106	1468	142533											
PLXNA3	55558	broad.mit.edu	37	chrX	153688788	153688788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcgcgtgtgtgcccacCgcctggcccccgtggacaac	13	17	0	0			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153688788C>T	uc004flm.2	+	2	438	c.265C>T	c.(265-267)CGC>TGC	p.R89C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	89	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					GTGTGCCCACCGCCTGGCCCC	0.687													T	153688788	C	T	153688788	3	4	275	1	0	0	0	0	1	0	0	0	12121	652	23	1	267	1	PLXNA3	23	153688788	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	21334	153688788	1581772	1469	142534											
DKC1	1736	broad.mit.edu	37	chrX	153996672	153996672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggtcagatgcaggagCttcggagggttcgttctgga	17	6	2	1			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:153996672C>A	uc004fmm.2	+	8	946	c.736C>A	c.(736-738)CTT>ATT	p.L246I	DKC1_uc010nvf.2_Missense_Mutation_p.L246I|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	246					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	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)					GATGCAGGAGCTTCGGAGGGT	0.483									Congenital_Dyskeratosis				A	153996672	C	A	153996672	3	1	275	1	0	0	0	0	1	0	0	0	4542	797	28	5	766	5	DKC1	23	153996672	Missense_Mutation	SNP	C	TCGA-HU-A4GX-01A-12D-A25D-08	307884	153996672	1273888	1470	142535											
RAB39B	116442	broad.mit.edu	37	chrX	154490502	154490502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagttcctgtagtaggcGcgagtgatggatctaaaaca	12	7	1	2			TCGA-HU-A4GX-01A-12D-A25D-08	TCGA-HU-A4GX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fffb9288-14f9-4466-b7a2-7aa1743792ff	a82c8c45-753a-4815-83d7-c249a1638801	g.chrX:154490502G>A	uc004fne.2	-	2	507	c.228C>T	c.(226-228)CGC>CGT	p.R76R		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	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)					TGTAGTAGGCGCGAGTGATGG	0.428													A	154490502	G	A	154490502	2	1	275	1	0	0	0	0	0	0	0	1	12930	1074	38	1		1	RAB39B	23	154490502	Silent	SNP	G	TCGA-HU-A4GX-01A-12D-A25D-08	493830	154490502	780058	1471	142536											
TNFRSF8	943	broad.mit.edu	37	chr1	12170181	12170181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtaagagggggcacccGcctcgcccaggaagctgctt	14	14	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:12170181G>A	uc001atq.2	+	6	818	c.596G>A	c.(595-597)CGC>CAC	p.R199H	TNFRSF8_uc010obc.1_Missense_Mutation_p.R88H	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	199	Extracellular (Potential).				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				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	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)		GGGGGCACCCGCCTCGCCCAG	0.622													A	12170181	G	A	12170181	3	1	276	1	0	0	0	0	1	0	0	0	16296	1087	38	1	618	1	TNFRSF8	1	12170181	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		12170181	237080440	1	142537											
PADI2	11240	broad.mit.edu	37	chr1	17402248	17402248	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagccagtctgagtagagctCcacgggcgcctgcacctgct	12	15	1	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:17402248C>A	uc001baf.2	-	12	1463	c.1381G>T	c.(1381-1383)GAG>TAG	p.E461*	PADI2_uc010ocm.1_Nonsense_Mutation_p.E345*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	461					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GAGTAGAGCTCCACGGGCGCC	0.602											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	17402248	C	A	17402248	4	1	276	1	0	0	0	0	0	1	0	0	11378	864	30	5	636	5	PADI2	1	17402248	Nonsense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	5232067	17402248	231848373	2	142538											
PINK1	65018	broad.mit.edu	37	chr1	20971110	20971110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgatgtgctgccctcaCgcctccaccctgaaggcctg	9	18	1	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:20971110C>T	uc001bdm.2	+	4	998	c.904C>T	c.(904-906)CGC>TGC	p.R302C		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	302	Protein kinase.|Cytoplasmic (Potential).				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			ovary(2)|central_nervous_system(1)	3		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)		GCTGCCCTCACGCCTCCACCC	0.642													T	20971110	C	T	20971110	3	4	276	1	0	0	0	0	1	0	0	0	11932	536	19	1	918	1	PINK1	1	20971110	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	3568862	20971110	228279511	3	142539											
SRRM1	10250	broad.mit.edu	37	chr1	24989244	24989244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggcggagacattccccttCccggagtgcttctccatcac	10	16	2	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:24989244C>T	uc001bjm.2	+	12	1801	c.1577C>T	c.(1576-1578)TCC>TTC	p.S526F	SRRM1_uc010oel.1_Missense_Mutation_p.S524F|SRRM1_uc009vrh.1_Missense_Mutation_p.S485F|SRRM1_uc009vri.1_Missense_Mutation_p.S441F|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	526	Necessary for speckles and matrix localization.|Arg-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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		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)		CATTCCCCTTCCCGGAGTGCT	0.502													T	24989244	C	T	24989244	3	4	276	1	0	0	0	0	1	0	0	0	15167	855	30	4	1623	4	SRRM1	1	24989244	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	4018134	24989244	224261377	4	142540											
GMEB1	10691	broad.mit.edu	37	chr1	29040683	29040683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgatgcctgtgagcactCctaagcctccaaaaaggccc	8	14	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:29040683C>T	uc001bra.2	+	10	1258	c.1120C>T	c.(1120-1122)CCT>TCT	p.P374S	GMEB1_uc001bqz.2_Missense_Mutation_p.P364S|GMEB1_uc001brb.2_Missense_Mutation_p.P364S	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		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)		TGTGAGCACTCCTAAGCCTCC	0.557													T	29040683	C	T	29040683	3	4	276	1	0	0	0	0	1	0	0	0	6487	855	30	4	1154	4	GMEB1	1	29040683	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	4051439	29040683	220209938	5	142541											
LRRC7	57554	broad.mit.edu	37	chr1	70505053	70505053	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccaactgataggtacggCagacccccatataggggagg	12	13	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:70505053C>A	uc001dep.2	+	19	3462	c.3432C>A	c.(3430-3432)GGC>GGA	p.G1144G	LRRC7_uc009wbg.2_Silent_p.G428G|LRRC7_uc001deq.2_Silent_p.G385G	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1144						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						ATAGGTACGGCAGACCCCCAT	0.547													A	70505053	C	A	70505053	2	1	276	1	0	0	0	0	0	0	0	1	9020	697	25	5		5	LRRC7	1	70505053	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	41464370	70505053	178745568	6	142542											
TNNI3K	51086	broad.mit.edu	37	chr1	74834948	74834948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaatagtggctataaaacGgtaagcaagcaaatgaaaaa	8	4	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:74834948G>A	uc001dgf.1	+	15	1523	c.1472G>A	c.(1471-1473)CGT>CAT	p.R491H	TNNI3K_uc001dgc.1_Missense_Mutation_p.R592H|TNNI3K_uc001dgd.2_Missense_Mutation_p.R592H|TNNI3K_uc001dge.1_Missense_Mutation_p.R592H	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	491	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTATAAAACGGTAAGCAAGC	0.328													A	74834948	G	A	74834948	3	1	276	1	0	0	0	0	1	0	0	0	16326	1130	39	1	1885	1	TNNI3K	1	74834948	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	4329895	74834948	174415673	7	142543											
ELTD1	64123	broad.mit.edu	37	chr1	79357356	79357356	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagaaggaacagaagagcGagggctcctcttgcacaaga	13	10	1	4			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:79357356G>A	uc001diq.3	-	14	2019	c.1863C>T	c.(1861-1863)CTC>CTT	p.L621L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	621	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACAGAAGAGCGAGGGCTCCTC	0.463													A	79357356	G	A	79357356	2	1	276	1	0	0	0	0	0	0	0	1	5084	1045	37	1		1	ELTD1	1	79357356	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	4522408	79357356	169893265	8	142544											
PEX19	5824	broad.mit.edu	37	chr1	160253356	160253356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatctcttctggggcccCgaagcatcaggggccgtggt	16	12	3	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:160253356C>T	uc001fvs.2	-	2	171	c.144G>A	c.(142-144)TCG>TCA	p.S48S	DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	48	Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGGGGCCCCGAAGCATCAG	0.567													T	160253356	C	T	160253356	2	4	276	1	0	0	0	0	0	0	0	1	11744	639	23	1		1	PEX19	1	160253356	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	80896000	160253356	88997265	9	142545											
HMCN1	83872	broad.mit.edu	37	chr1	185947011	185947011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcagggttatccagaaCcaacaatcaaatggcgaaga	9	8	2	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:185947011C>T	uc001grq.1	+	16	2693	c.2464C>T	c.(2464-2466)CCA>TCA	p.P822S	HMCN1_uc001grr.1_Missense_Mutation_p.P163S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	822	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTATCCAGAACCAACAATCAA	0.393													T	185947011	C	T	185947011	3	4	276	1	0	0	0	0	1	0	0	0	7220	507	18	4	2526	4	HMCN1	1	185947011	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	25693655	185947011	63303610	10	142546											
NR5A2	2494	broad.mit.edu	37	chr1	200014579	200014579	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcttatagggatttttTaagcgaacagtccaaaataa	7	6	2	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:200014579T>C	uc001gvb.2	+	4	536	c.330T>C	c.(328-330)TTT>TTC	p.F110F	NR5A2_uc001gvc.2_Silent_p.F64F|NR5A2_uc009wzh.2_Silent_p.F70F|NR5A2_uc010pph.1_Silent_p.F38F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	110	Nuclear receptor.				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			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					AGGGATTTTTTAAGCGAACAG	0.338													C	200014579	T	C	200014579	2	2	276	1	0	0	0	0	0	0	0	1	10636	1751	61	3		3	NR5A2	1	200014579	Silent	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08	14067568	200014579	49236042	11	142547											
CR1L	1379	broad.mit.edu	37	chr1	207871117	207871117	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgtttttctttttttccagtGaaatcctgtgatgacttcct	6	9	1	3			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:207871117G>T	uc001hga.3	+	7	1162	c.1041G>T	c.(1039-1041)GTG>GTT	p.V347V	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	347	Sushi 5.					cytoplasm|extracellular region|membrane					0						TTTTTCCAGTGAAATCCTGTG	0.403													T	207871117	G	T	207871117	2	4	276	1	0	0	0	0	0	0	0	1	3841	1304	45	5		5	CR1L	1	207871117	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	7856538	207871117	41379504	12	142548											
OR2L3	391192	broad.mit.edu	37	chr1	248224695	248224695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagggaggaagaaagcctacCtgacctgcagcacccacctc	10	14	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr1:248224695C>G	uc001idx.1	+	1	712	c.712C>G	c.(712-714)CTG>GTG	p.L238V	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			GAAAGCCTACCTGACCTGCAG	0.473													G	248224695	C	G	248224695	3	3	276	1	0	0	0	0	1	0	0	0	11008	680	24	5	714	5	OR2L3	1	248224695	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	40353578	248224695	1025926	13	142549											
NCOA1	8648	broad.mit.edu	37	chr2	24964753	24964753	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaagagccatgcttaTgaggcagcaaagctttggga	13	8	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr2:24964753T>A	uc002rfk.2	+	17	3662	c.3404T>A	c.(3403-3405)ATG>AAG	p.M1135K	NCOA1_uc010eye.2_Missense_Mutation_p.M1135K|NCOA1_uc002rfi.2_Missense_Mutation_p.M984K|NCOA1_uc002rfj.2_Missense_Mutation_p.M1135K|NCOA1_uc002rfl.2_Missense_Mutation_p.M1135K|NCOA1_uc010eyf.2_Missense_Mutation_p.M28K	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1135	Gln-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATGCTTATGAGGCAGCAA	0.542			T	PAX3	alveolar rhadomyosarcoma								A	24964753	T	A	24964753	3	1	276	1	0	0	0	0	1	0	0	0	10228	1464	51	5	3462	5	NCOA1	2	24964753	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08		24964753	218234620	14	142550											
PDHB	5162	broad.mit.edu	37	chr3	58413835	58413835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttgtcctctagaatctTtgcataaggcatagggacat	10	7	2	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr3:58413835T>C	uc003dkf.3	-	10	1035	c.1006A>G	c.(1006-1008)AAG>GAG	p.K336E	PDHB_uc003dke.3_Missense_Mutation_p.K294E|PDHB_uc003dkg.3_Missense_Mutation_p.K318E|PDHB_uc010hnl.2_3'UTR|PDHB_uc011bff.1_Missense_Mutation_p.K318E	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	336					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				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)	TCTAGAATCTTTGCATAAGGC	0.413													C	58413835	T	C	58413835	3	2	276	1	0	0	0	0	1	0	0	0	11666	1850	64	3	77	3	PDHB	3	58413835	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08		58413835	139608595	15	142551											
ABLIM2	84448	broad.mit.edu	37	chr4	8009905	8009905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtctgcatcccccttgAgcatcagccagctgctcttc	8	15	3	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:8009905A>G	uc003gko.2	-	15	1540	c.1397T>C	c.(1396-1398)CTC>CCC	p.L466P	ABLIM2_uc003gkk.2_Missense_Mutation_p.L130P|ABLIM2_uc003gkl.2_Missense_Mutation_p.L194P|ABLIM2_uc003gkj.3_Missense_Mutation_p.L500P|ABLIM2_uc003gkm.3_Missense_Mutation_p.L414P|ABLIM2_uc003gkp.2_Missense_Mutation_p.L425P|ABLIM2_uc003gkq.2_Missense_Mutation_p.L466P|ABLIM2_uc003gkr.2_Missense_Mutation_p.L415P|ABLIM2_uc003gks.3_Missense_Mutation_p.L426P|MIR95_hsa-mir-95|MI0000097_5'Flank	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	466					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						ATCCCCCTTGAGCATCAGCCA	0.522													G	8009905	A	G	8009905	3	3	276	1	0	0	0	0	1	0	0	0	95	304	11	3	479	3	ABLIM2	4	8009905	Missense_Mutation	SNP	A	TCGA-HU-A4GY-01A-21D-A24D-08		8009905	183144371	16	142552											
KCTD8	386617	broad.mit.edu	37	chr4	44176968	44176968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggacagatttgtttcccGggacttgctgatgagggtct	13	7	1	3			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:44176968G>A	uc003gwu.2	-	2	1545	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	421						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TTTGTTTCCCGGGACTTGCTG	0.413										HNSCC(17;0.042)			A	44176968	G	A	44176968	3	1	276	1	0	0	0	0	1	0	0	0	8115	1115	39	1	164	1	KCTD8	4	44176968	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	36167063	44176968	146977308	17	142553											
LPHN3	23284	broad.mit.edu	37	chr4	62812713	62812713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtatgaagttgggaaCggaagctttgtccacaaatc	11	8	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:62812713C>T	uc010ihh.2	+	13	2470	c.2297C>T	c.(2296-2298)ACG>ATG	p.T766M	LPHN3_uc003hcq.3_Missense_Mutation_p.T766M|LPHN3_uc003hct.2_Missense_Mutation_p.T159M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	753	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AAGTTGGGAACGGAAGCTTTG	0.403													T	62812713	C	T	62812713	3	4	276	1	0	0	0	0	1	0	0	0	8917	536	19	1	2347	1	LPHN3	4	62812713	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	18635745	62812713	128341563	18	142554											
KIAA1109	84162	broad.mit.edu	37	chr4	123178476	123178476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggcaaggcagtggatgAagtttattgtggtgacacca	13	7	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:123178476A>C	uc003ieh.2	+	39	6490	c.6445A>C	c.(6445-6447)AAG>CAG	p.K2149Q	KIAA1109_uc003iel.1_Missense_Mutation_p.K84Q|KIAA1109_uc003iek.2_Missense_Mutation_p.K768Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2149					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GCAGTGGATGAAGTTTATTGT	0.418													C	123178476	A	C	123178476	3	2	276	1	0	0	0	0	1	0	0	0	8208	247	9	5	6599	5	KIAA1109	4	123178476	Missense_Mutation	SNP	A	TCGA-HU-A4GY-01A-21D-A24D-08	60365763	123178476	67975800	19	142555											
FAT4	79633	broad.mit.edu	37	chr4	126240497	126240497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggtgtcccacagctctcCtctagtgtcatcttaacagt	8	12	4	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr4:126240497C>T	uc003ifj.3	+	1	2931	c.2931C>T	c.(2929-2931)TCC>TCT	p.S977S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	977	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACAGCTCTCCTCTAGTGTCA	0.448													T	126240497	C	T	126240497	2	4	276	1	0	0	0	0	0	0	0	1	5692	668	24	4		4	FAT4	4	126240497	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	3062021	126240497	64913779	20	142556											
CDH12	1010	broad.mit.edu	37	chr5	22078727	22078727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggttgtagtggtgttAggagacctccatcaaacaga	13	7	1	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:22078727A>G	uc010iuc.2	-	2	517	c.59T>C	c.(58-60)CTA>CCA	p.L20P	CDH12_uc011cno.1_Missense_Mutation_p.L20P|CDH12_uc003jgk.2_Missense_Mutation_p.L20P	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	20					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TAGTGGTGTTAGGAGACCTCC	0.448										HNSCC(59;0.17)			G	22078727	A	G	22078727	3	3	276	1	0	0	0	0	1	0	0	0	3098	420	15	3	2369	3	CDH12	5	22078727	Missense_Mutation	SNP	A	TCGA-HU-A4GY-01A-21D-A24D-08		22078727	158836533	21	142557											
DEPDC1B	55789	broad.mit.edu	37	chr5	59899243	59899243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgtagatgagccacaCgctcctctatagaggtctgc	9	13	3	3			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:59899243C>T	uc003jsh.2	-	9	1290	c.1217G>A	c.(1216-1218)CGT>CAT	p.R406H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R406H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R379H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	406					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ATGAGCCACACGCTCCTCTAT	0.433													T	59899243	C	T	59899243	3	4	276	1	0	0	0	0	1	0	0	0	4440	536	19	1	384	1	DEPDC1B	5	59899243	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	37820516	59899243	121016017	22	142558											
PPIP5K2	23262	broad.mit.edu	37	chr5	102490450	102490450	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaccaaaacagttacagGcaagtgtatttgctttcttg	7	7	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:102490450G>T	uc003kod.3	+	12	1812	c.1293_splice	c.e12+1	p.Q431_splice	PPIP5K2_uc011cva.1_Splice_Site|PPIP5K2_uc003koe.2_Splice_Site_p.Q431_splice|PPIP5K2_uc010jbo.1_Splice_Site_p.Q353_splice	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1						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			ovary(1)|skin(1)	2						ACAGTTACAGGCAAGTGTATT	0.229													T	102490450	G	T	102490450	5	4	276	1	0	0	0	0	0	0	1	0	12333	1217	42	5	1336	5	PPIP5K2	5	102490450	Splice_Site	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	42591207	102490450	78424810	23	142559											
LOC153328	153328	broad.mit.edu	37	chr5	135188428	135188428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggccagcatggtggcCggcgtggtctctgtcgggct	16	13	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:135188428C>T	uc003laz.1	+	4	511	c.339C>T	c.(337-339)GCC>GCT	p.A113A	LOC153328_uc003lba.2_Silent_p.A113A			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	113	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCATGGTGGCCGGCGTGGTCT	0.662													T	135188428	C	T	135188428	2	4	276	1	0	0	0	0	0	0	0	1	8871	639	23	1		1	LOC153328	5	135188428	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	32697978	135188428	45726832	24	142560											
PCDHA5	56143	broad.mit.edu	37	chr5	140202806	140202806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctgcacgggacgcggaCgcgcaggagaacgccctggt	17	12	1	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:140202806C>T	uc003lhl.2	+	1	1446	c.1446C>T	c.(1444-1446)GAC>GAT	p.D482D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.D482D|PCDHA5_uc003lhj.1_Silent_p.D482D	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	482	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGCGGACGCGCAGGAGA	0.667													T	140202806	C	T	140202806	2	4	276	1	0	0	0	0	0	0	0	1	11527	535	19	1		1	PCDHA5	5	140202806	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	5014378	140202806	40712454	25	142561											
PCDHA11	56138	broad.mit.edu	37	chr5	140250862	140250862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgtggtggtcggcaaCgcccactgagggcgcgtgcg	19	12	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr5:140250862C>T	uc003lia.2	+	1	3032	c.2174C>T	c.(2173-2175)ACG>ATG	p.T725M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T725M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	725	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGGCAACGCCCACTGAG	0.667													T	140250862	C	T	140250862	3	4	276	1	0	0	0	0	1	0	0	0	11521	536	19	1	2176	1	PCDHA11	5	140250862	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	48056	140250862	40664398	26	142562											
LY86	9450	broad.mit.edu	37	chr6	6589058	6589058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcctggcccacacacGtggtctgtagcgacagcggc	14	13	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:6589058G>A	uc003mwy.1	+	1	125	c.91G>A	c.(91-93)GTG>ATG	p.V31M	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	31					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					GCCCACACACGTGGTCTGTAG	0.577													A	6589058	G	A	6589058	3	1	276	1	0	0	0	0	1	0	0	0	9100	1145	40	1	93	1	LY86	6	6589058	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		6589058	164526009	27	142563											
TNXB	7148	broad.mit.edu	37	chr6	32035444	32035444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcacactcacccgtgaCgcccacagcagacactgggc	10	17	1	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:32035444C>T	uc003nzl.2	-	18	6740	c.6538G>A	c.(6538-6540)GTC>ATC	p.V2180I		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2252					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCACCCGTGACGCCCACAGCA	0.637													T	32035444	C	T	32035444	3	4	276	1	0	0	0	0	1	0	0	0	16343	536	19	1	8283	1	TNXB	6	32035444	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	25446386	32035444	139079623	28	142564											
COL12A1	1303	broad.mit.edu	37	chr6	75847211	75847211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcctatatttctgcacaCgaccactagcaggatcccac	6	14	1	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:75847211C>T	uc003phs.2	-	31	5502	c.5336G>A	c.(5335-5337)CGT>CAT	p.R1779H	COL12A1_uc003pht.2_Missense_Mutation_p.R615H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1779	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTTCTGCACACGACCACTAGC	0.403													T	75847211	C	T	75847211	3	4	276	1	0	0	0	0	1	0	0	0	3669	536	19	1	3999	1	COL12A1	6	75847211	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	43811767	75847211	95267856	29	142565											
NT5E	4907	broad.mit.edu	37	chr6	86197098	86197098	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaatggaggataaaattggAtaattattctacccaggaat	8	5	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:86197098A>T	uc003pko.3	+	5	1551	c.995A>T	c.(994-996)GAT>GTT	p.D332V	NT5E_uc010kbr.2_Missense_Mutation_p.D332V	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	332					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			ovary(3)|central_nervous_system(1)	4		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)	ATAAAATTGGATAATTATTCT	0.378													T	86197098	A	T	86197098	3	4	276	1	0	0	0	0	1	0	0	0	10693	333	12	5	1013	5	NT5E	6	86197098	Missense_Mutation	SNP	A	TCGA-HU-A4GY-01A-21D-A24D-08	10349887	86197098	84917969	30	142566											
EPHA7	2045	broad.mit.edu	37	chr6	93955108	93955108	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcttaatagcttgtagccaTtctccaactgaacaaaaggt	6	9	2	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:93955108T>A	uc003poe.2	-	16	3031	c.2790A>T	c.(2788-2790)GAA>GAT	p.E930D	EPHA7_uc003pof.2_Missense_Mutation_p.E925D|EPHA7_uc011eac.1_Missense_Mutation_p.E926D	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	930	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		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)		CTTGTAGCCATTCTCCAACTG	0.383													A	93955108	T	A	93955108	3	1	276	1	0	0	0	0	1	0	0	0	5172	1490	52	5	214	5	EPHA7	6	93955108	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08	7758010	93955108	77159959	31	142567											
POPDC3	64208	broad.mit.edu	37	chr6	105606547	105606547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaggcgggagatgtagCgatgctgagcaaagagcaga	15	5	0	4	rs111547826		TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:105606547C>T	uc003prb.2	-	4	1076	c.674G>A	c.(673-675)CGC>CAC	p.R225H	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	225						integral to membrane				skin(3)|ovary(2)	5		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)				GGAGATGTAGCGATGCTGAGC	0.398													T	105606547	C	T	105606547	3	4	276	1	0	0	0	0	1	0	0	0	12256	768	27	1	205	1	POPDC3	6	105606547	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	11651439	105606547	65508520	32	142568											
AKD1	221264	broad.mit.edu	37	chr6	109871483	109871483	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtctcccaaatgcctctttCtctccttcattttatcttca	2	14	6	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:109871483C>A	uc003ptn.2	-	25	2851	c.2774G>T	c.(2773-2775)AGA>ATA	p.R925I	AKD1_uc011eat.1_Missense_Mutation_p.R4I	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	925					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						ATGCCTCTTTCTCTCCTTCAT	0.368													A	109871483	C	A	109871483	3	1	276	1	0	0	0	0	1	0	0	0	460	913	32	5	3029	5	AKD1	6	109871483	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	4264936	109871483	61243584	33	142569											
PLG	5340	broad.mit.edu	37	chr6	161152156	161152156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttaccacagaccccagcGtcaggtgggagtactgcaac	11	12	1	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr6:161152156G>A	uc003qtm.3	+	11	1393	c.1330G>A	c.(1330-1332)GTC>ATC	p.V444I		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	444	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				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)	AGACCCCAGCGTCAGGTGGGA	0.502													A	161152156	G	A	161152156	3	1	276	1	0	0	0	0	1	0	0	0	12086	1145	40	1	1376	1	PLG	6	161152156	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	51280673	161152156	9962911	34	142570											
EIF3B	8662	broad.mit.edu	37	chr7	2416710	2416710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagccaggaacagatcaaGgtcagcatgcccccaccccc	9	17	2	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr7:2416710G>A	uc003slx.2	+	15	2237	c.2154G>A	c.(2152-2154)AAG>AAA	p.K718K	EIF3B_uc003sly.2_Silent_p.K718K|EIF3B_uc003sma.2_Silent_p.K446K|EIF3B_uc003smb.2_RNA	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	718					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AACAGATCAAGGTCAGCATGC	0.592													A	2416710	G	A	2416710	2	1	276	1	0	0	0	0	0	0	0	1	5013	1014	35	4		4	EIF3B	7	2416710	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		2416710	156721953	35	142571											
TAX1BP1	8887	broad.mit.edu	37	chr7	27831706	27831706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaagttgtctttctgGctaaagaactcagtgatgct	11	7	3	3			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr7:27831706G>A	uc003szl.2	+	9	1278	c.1120G>A	c.(1120-1122)GCT>ACT	p.A374T	TAX1BP1_uc011jzo.1_Missense_Mutation_p.A374T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A374T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A217T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	374	Oligomerization.|Potential.				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)	1			GBM - Glioblastoma multiforme(3;0.0823)			TGTCTTTCTGGCTAAAGAACT	0.433													A	27831706	G	A	27831706	3	1	276	1	0	0	0	0	1	0	0	0	15591	1203	42	2	1150	2	TAX1BP1	7	27831706	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	25414996	27831706	131306957	36	142572											
PAG1	55824	broad.mit.edu	37	chr8	81889066	81889066	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatggaggtgtaggtggactCcggaactgtaagcgactgcc	15	8	0	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr8:81889066C>A	uc003ybz.2	-	9	1723	c.1012G>T	c.(1012-1014)GAG>TAG	p.E338*		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	338	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TAGGTGGACTCCGGAACTGTA	0.453													A	81889066	C	A	81889066	4	1	276	1	0	0	0	0	0	1	0	0	11388	864	30	5	290	5	PAG1	8	81889066	Nonsense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08		81889066	64474956	37	142573											
ABI1	10006	broad.mit.edu	37	chr10	27149760	27149760	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccctcttgccagacgggatCtcctcctctagtaacatctg	8	15	4	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr10:27149760C>T	uc001isx.2	-	1	200	c.33G>A	c.(31-33)GAG>GAA	p.E11E	ABI1_uc001ite.2_Silent_p.E11E|ABI1_uc010qdh.1_Silent_p.E11E|ABI1_uc010qdi.1_Silent_p.E11E|ABI1_uc001isy.2_Silent_p.E11E|ABI1_uc001ita.2_Silent_p.E11E|ABI1_uc001isz.2_Silent_p.E11E|ABI1_uc001itb.2_Silent_p.E11E|ABI1_uc001itc.2_Silent_p.E11E|ABI1_uc010qdj.1_Silent_p.E11E|ABI1_uc001itd.2_Silent_p.E11E|ABI1_uc010qdk.1_Silent_p.E11E	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	11					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						CAGACGGGATCTCCTCCTCTA	0.567													T	27149760	C	T	27149760	2	4	276	1	0	0	0	0	0	0	0	1	88	912	32	4		4	ABI1	10	27149760	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08		27149760	108384987	38	142574											
RASGEF1A	221002	broad.mit.edu	37	chr10	43693520	43693520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagtagatgtccttaaCgaagaggttgaacacaggga	13	6	0	3	rs138913845		TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr10:43693520C>T	uc001jap.1	-	10	1237	c.1156G>A	c.(1156-1158)GTT>ATT	p.V386I	RASGEF1A_uc001jao.1_Missense_Mutation_p.V394I	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	386	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						ATGTCCTTAACGAAGAGGTTG	0.552											OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43693520	C	T	43693520	3	4	276	1	0	0	0	0	1	0	0	0	13069	536	19	1	305	1	RASGEF1A	10	43693520	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	16543760	43693520	91841227	39	142575											
ZMIZ1	57178	broad.mit.edu	37	chr10	81064968	81064968	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattgcgagagagggacCtggaggtgtcctgtgtgcaa	16	7	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr10:81064968C>A	uc001kaf.2	+	20	2906	c.2334C>A	c.(2332-2334)ACC>ACA	p.T778T	ZMIZ1_uc001kag.2_Silent_p.T654T|ZMIZ1_uc010qlq.1_5'Flank	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	778	SP-RING-type.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	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)			AGAGAGGGACCTGGAGGTGTC	0.597													A	81064968	C	A	81064968	2	1	276	1	0	0	0	0	0	0	0	1	17693	668	24	5		5	ZMIZ1	10	81064968	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	37371448	81064968	54469779	40	142576											
MUC2	4583	broad.mit.edu	37	chr11	1093720	1093720	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcacccattgctgagTtgaccacatccaatcctccg	7	16	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:1093720T>G	uc001lsx.1	+	33	12652	c.12625T>G	c.(12625-12627)TTG>GTG	p.L4209V		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4209						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	CATTGCTGAGTTGACCACATC	0.607													G	1093720	T	G	1093720	3	3	276	1	0	0	0	0	1	0	0	0	9975	1722	60	5	5649	5	MUC2	11	1093720	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08		1093720	133912796	41	142577											
GRIK4	2900	broad.mit.edu	37	chr11	120744839	120744839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtgcaggaactgaaccGgagccaagagatcggcgtga	16	9	0	3			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:120744839G>A	uc001pxn.2	+	10	1258	c.971G>A	c.(970-972)CGG>CAG	p.R324Q	GRIK4_uc009zav.1_Missense_Mutation_p.R324Q|GRIK4_uc009zaw.1_Missense_Mutation_p.R324Q|GRIK4_uc009zax.1_Missense_Mutation_p.R324Q	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	324	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	GAACTGAACCGGAGCCAAGAG	0.517													A	120744839	G	A	120744839	3	1	276	1	0	0	0	0	1	0	0	0	6776	1116	39	1	1001	1	GRIK4	11	120744839	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	119651119	120744839	14261677	42	142578											
TECTA	7007	broad.mit.edu	37	chr11	121028745	121028745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgcaccttcgacggcGccttcctgcgcttcccagcc	8	20	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:121028745G>A	uc010rzo.1	+	13	4501	c.4501G>A	c.(4501-4503)GCC>ACC	p.A1501T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1501	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CTTCGACGGCGCCTTCCTGCG	0.642													A	121028745	G	A	121028745	3	1	276	1	0	0	0	0	1	0	0	0	15744	1087	38	1	4551	1	TECTA	11	121028745	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	283906	121028745	13977771	43	142579											
OR10S1	219873	broad.mit.edu	37	chr11	123847677	123847677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgggctgtgcggatgCgcaacacagctgccacgatg	15	13	0	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr11:123847677C>T	uc001pzm.1	-	1	722	c.722G>A	c.(721-723)CGC>CAC	p.R241H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		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)		TGTGCGGATGCGCAACACAGC	0.582													T	123847677	C	T	123847677	3	4	276	1	0	0	0	0	1	0	0	0	10918	768	27	1	277	1	OR10S1	11	123847677	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	2818932	123847677	11158839	44	142580											
CACNA2D4	93589	broad.mit.edu	37	chr12	1995426	1995426	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcattctcccccagggtgTccaagatggtggtgatggtg	14	9	2	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:1995426T>A	uc001qjp.2	-	8	1187	c.956A>T	c.(955-957)GAC>GTC	p.D319V	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	319	VWFA.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	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)		CCCCAGGGTGTCCAAGATGGT	0.473													A	1995426	T	A	1995426	3	1	276	1	0	0	0	0	1	0	0	0	2551	1667	58	5	2581	5	CACNA2D4	12	1995426	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08		1995426	131856469	45	142581											
AMIGO2	347902	broad.mit.edu	37	chr12	47471424	47471424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccttccgttcatcagcGgaggcatcactagcggggcc	12	15	3	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:47471424G>A	uc001rpm.2	-	3	2017	c.1362C>T	c.(1360-1362)TCC>TCT	p.S454S	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Silent_p.S454S|AMIGO2_uc001rpl.2_Silent_p.S454S	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	454	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					GTTCATCAGCGGAGGCATCAC	0.512													A	47471424	G	A	47471424	2	1	276	1	0	0	0	0	0	0	0	1	576	1103	39	1		1	AMIGO2	12	47471424	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	45475998	47471424	86380471	46	142582											
TARBP2	6895	broad.mit.edu	37	chr12	53899824	53899824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggtggaactgtccacCcagccggccactgtgtgtca	12	14	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:53899824C>T	uc001sdo.2	+	9	1481	c.993C>T	c.(991-993)ACC>ACT	p.T331T	TARBP2_uc001sdp.2_Silent_p.T310T|TARBP2_uc001sdq.2_Silent_p.T187T|TARBP2_uc001sdr.2_Silent_p.T187T|TARBP2_uc001sds.2_3'UTR|TARBP2_uc001sdt.2_Silent_p.T310T|TARBP2_uc001sdu.2_Silent_p.T187T|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	331	Sufficient for interaction with DICER1.|DRBM 3.|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)	1						AACTGTCCACCCAGCCGGCCA	0.642													T	53899824	C	T	53899824	2	4	276	1	0	0	0	0	0	0	0	1	15553	610	22	4		4	TARBP2	12	53899824	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	6428400	53899824	79952071	47	142583											
CKAP4	10970	broad.mit.edu	37	chr12	106633919	106633919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtgttctccagggacGtgaagtcccgctcccgggcg	13	16	1	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr12:106633919G>A	uc001tlk.2	-	2	776	c.692C>T	c.(691-693)ACG>ATG	p.T231M		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	231						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						CTCCAGGGACGTGAAGTCCCG	0.562													A	106633919	G	A	106633919	3	1	276	1	0	0	0	0	1	0	0	0	3444	1145	40	1	1120	1	CKAP4	12	106633919	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	52734095	106633919	27217976	48	142584											
DACT1	51339	broad.mit.edu	37	chr14	59113462	59113462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtggggctgtaccccgcGcctgtgcctctgccctacgc	12	16	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr14:59113462G>A	uc001xdw.2	+	4	2285	c.2121G>A	c.(2119-2121)GCG>GCA	p.A707A	DACT1_uc010trv.1_Silent_p.A426A|DACT1_uc001xdx.2_Silent_p.A670A|DACT1_uc010trw.1_Silent_p.A426A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGTACCCCGCGCCTGTGCCTC	0.677													A	59113462	G	A	59113462	2	1	276	1	0	0	0	0	0	0	0	1	4222	1074	38	1		1	DACT1	14	59113462	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		59113462	48236078	49	142585											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140151	3140151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacaggaaggcgggttcGgaggagtgggtcagcaggtg	21	7	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr16:3140151G>A	uc002ctv.1	-	5	1207	c.1119C>T	c.(1117-1119)TCC>TCT	p.S373S	ZSCAN10_uc002cty.1_Silent_p.S34S|ZSCAN10_uc002ctw.1_Silent_p.S291S|ZSCAN10_uc002ctx.1_Silent_p.S301S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	373					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AGGCGGGTTCGGAGGAGTGGG	0.716													A	3140151	G	A	3140151	2	1	276	1	0	0	0	0	0	0	0	1	18224	1103	39	1		1	ZSCAN10	16	3140151	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		3140151	87214602	50	142586											
GDPD3	79153	broad.mit.edu	37	chr16	30119574	30119574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcggatcagactcttcCtcatgatcagcctgggggtg	13	10	4	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr16:30119574C>T	uc002dwp.2	-	9	858	c.779G>A	c.(778-780)AGG>AAG	p.R260K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R198K	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	260	GDPD.|Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						CAGACTCTTCCTCATGATCAG	0.557													T	30119574	C	T	30119574	3	4	276	1	0	0	0	0	1	0	0	0	6325	681	24	4	185	4	GDPD3	16	30119574	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	26979423	30119574	60235179	51	142587											
CCDC47	57003	broad.mit.edu	37	chr17	61838708	61838708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgttagttccatcaTcccctaggggtaaaaccact	6	12	2	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr17:61838708T>C	uc002jbs.3	-	5	887	c.551A>G	c.(550-552)GAT>GGT	p.D184G	CCDC47_uc010ddx.2_Missense_Mutation_p.D184G|CCDC47_uc002jbt.2_Missense_Mutation_p.D184G	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47 precursor	184						integral to membrane	protein binding				0						AGTTCCATCATCCCCTAGGGG	0.358													C	61838708	T	C	61838708	3	2	276	1	0	0	0	0	1	0	0	0	2818	1435	50	3	936	3	CCDC47	17	61838708	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08		61838708	19356502	52	142588											
SDK2	54549	broad.mit.edu	37	chr17	71389865	71389865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatcggggctgggtgtcCgagtccttctccttatacat	11	11	1	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr17:71389865C>T	uc010dfm.2	-	27	3732	c.3732G>A	c.(3730-3732)TCG>TCA	p.S1244S	SDK2_uc002jjt.3_Silent_p.S403S|SDK2_uc010dfn.2_Silent_p.S923S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1244	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCTGGGTGTCCGAGTCCTTCT	0.592													T	71389865	C	T	71389865	2	4	276	1	0	0	0	0	0	0	0	1	13969	639	23	1		1	SDK2	17	71389865	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	9551157	71389865	9805345	53	142589											
ZNF396	252884	broad.mit.edu	37	chr18	32949588	32949588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctaaagaagtcttttgccttGaagcagatttcacatttgta	7	7	2	3			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr18:32949588G>A	uc010xcf.1	-	4	731	c.599C>T	c.(598-600)TCA>TTA	p.S200L		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	200					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTTTTGCCTTGAAGCAGATTT	0.358													A	32949588	G	A	32949588	3	1	276	1	0	0	0	0	1	0	0	0	17879	1294	45	4	410	4	ZNF396	18	32949588	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		32949588	45127660	54	142590											
ALPK2	115701	broad.mit.edu	37	chr18	56247279	56247279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgttcaggtcaccatcCgtgaactttgatgccatgga	9	10	3	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr18:56247279C>T	uc002lhj.3	-	4	943	c.729G>A	c.(727-729)ACG>ACA	p.T243T		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	243							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GGTCACCATCCGTGAACTTTG	0.403													T	56247279	C	T	56247279	2	4	276	1	0	0	0	0	0	0	0	1	545	639	23	1		1	ALPK2	18	56247279	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	23297691	56247279	21829969	55	142591											
MUC16	94025	broad.mit.edu	37	chr19	9008193	9008193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgacgtagagactgttcCggtccagggtgtaggggccc	15	10	0	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:9008193C>T	uc002mkp.2	-	41	39563	c.39359G>A	c.(39358-39360)CGG>CAG	p.R13120Q	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13122	Extracellular (Potential).|SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAGACTGTTCCGGTCCAGGGT	0.542													T	9008193	C	T	9008193	3	4	276	1	0	0	0	0	1	0	0	0	9973	652	23	1	4340	1	MUC16	19	9008193	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08		9008193	50120790	56	142592											
MUC16	94025	broad.mit.edu	37	chr19	9015712	9015712	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttggtgatggtgaagTtgagggtgaacggcaccagg	18	5	1	4			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:9015712T>G	uc002mkp.2	-	29	38315	c.38111A>C	c.(38110-38112)AAC>ACC	p.N12704T	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12706	SEA 5.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GATGGTGAAGTTGAGGGTGAA	0.488													G	9015712	T	G	9015712	3	3	276	1	0	0	0	0	1	0	0	0	9973	1725	60	5	5636	5	MUC16	19	9015712	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08	7519	9015712	50113271	57	142593											
CRLF1	9244	broad.mit.edu	37	chr19	18709587	18709587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggccaccaccaacctaagCttgtacttgagggagtagtt	10	11	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:18709587C>A	uc010ebt.1	-	3	716	c.522G>T	c.(520-522)AAG>AAT	p.K174N		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	174	Fibronectin type-III 1.				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(1)	1						CCAACCTAAGCTTGTACTTGA	0.607													A	18709587	C	A	18709587	3	1	276	1	0	0	0	0	1	0	0	0	3886	796	28	5	774	5	CRLF1	19	18709587	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	9693875	18709587	40419396	58	142594											
ATP1A3	478	broad.mit.edu	37	chr19	42479904	42479904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcggccttcttcagagCgggggagtcgttcacaccat	12	11	3	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:42479904C>T	uc002osg.2	-	16	2294	c.2140G>A	c.(2140-2142)GCT>ACT	p.A714T	ATP1A3_uc010xwf.1_Missense_Mutation_p.A725T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A684T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A727T|ATP1A3_uc002osh.2_Missense_Mutation_p.A714T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	714	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TTCTTCAGAGCGGGGGAGTCG	0.532													T	42479904	C	T	42479904	3	4	276	1	0	0	0	0	1	0	0	0	1130	768	27	1	933	1	ATP1A3	19	42479904	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	23770317	42479904	16649079	59	142595											
CCDC8	83987	broad.mit.edu	37	chr19	46915005	46915005	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctctggttatctgcagCctctgccccctcctcagctg	7	18	4	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:46915005C>A	uc002pep.2	-	1	1915	c.1063G>T	c.(1063-1065)GCT>TCT	p.A355S		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	355	Potential.					plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TTATCTGCAGCCTCTGCCCCC	0.617													A	46915005	C	A	46915005	3	1	276	1	0	0	0	0	1	0	0	0	2853	739	26	5	557	5	CCDC8	19	46915005	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	4435101	46915005	12213978	60	142596											
ELSPBP1	64100	broad.mit.edu	37	chr19	48519257	48519257	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcagtcacctctgtcTtcgatgagaaacagcagtgg	12	10	4	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:48519257T>G	uc002pht.2	+	4	471	c.316T>G	c.(316-318)TTC>GTC	p.F106V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	106	Fibronectin type-II 2.				single fertilization	extracellular region					0		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)		CACCTCTGTCTTCGATGAGAA	0.517													G	48519257	T	G	48519257	3	3	276	1	0	0	0	0	1	0	0	0	5083	1609	56	5	326	5	ELSPBP1	19	48519257	Missense_Mutation	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08	1604252	48519257	10609726	61	142597											
C19orf41	126123	broad.mit.edu	37	chr19	50662827	50662827	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggtcaccagctcttccagCagaggctcatctgaggagag	13	11	4	3			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:50662827C>A	uc002prp.1	-	3	405	c.318G>T	c.(316-318)CTG>CTT	p.L106L		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	106	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		GCTCTTCCAGCAGAGGCTCAT	0.453													A	50662827	C	A	50662827	2	1	276	1	0	0	0	0	0	0	0	1	1924	697	25	5		5	C19orf41	19	50662827	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	2143570	50662827	8466156	62	142598											
CACNG7	59284	broad.mit.edu	37	chr19	54445295	54445295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccttgccgcagggggcCggcgtgatgtccgtgtacct	15	13	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:54445295C>T	uc002qcr.1	+	5	591	c.576C>T	c.(574-576)GCC>GCT	p.A192A		NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	192	Helical; (Potential).			GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	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			ovary(1)	1	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)		CGCAGGGGGCCGGCGTGATGT	0.647													T	54445295	C	T	54445295	2	4	276	1	0	0	0	0	0	0	0	1	2562	639	23	1		1	CACNG7	19	54445295	Silent	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	3782468	54445295	4683688	63	142599											
FCAR	2204	broad.mit.edu	37	chr19	55401080	55401080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggcaggactggtcctcGtggctctcttggccatactg	13	13	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr19:55401080G>A	uc002qhr.1	+	5	912	c.715G>A	c.(715-717)GTG>ATG	p.V239M	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.V190M|FCAR_uc010esi.1_Missense_Mutation_p.V116M|FCAR_uc002qhu.1_Missense_Mutation_p.V143M|FCAR_uc002qhv.1_Missense_Mutation_p.V217M|FCAR_uc002qhw.1_Missense_Mutation_p.V227M|FCAR_uc002qhx.1_Missense_Mutation_p.V131M|FCAR_uc002qhy.1_Missense_Mutation_p.V205M|FCAR_uc002qhz.1_Missense_Mutation_p.R202H|FCAR_uc002qia.1_Missense_Mutation_p.V130M	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	239	Helical; (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		ACTGGTCCTCGTGGCTCTCTT	0.537													A	55401080	G	A	55401080	3	1	276	1	0	0	0	0	1	0	0	0	5773	1145	40	1	804	1	FCAR	19	55401080	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	955785	55401080	3727903	64	142600											
MYH7B	57644	broad.mit.edu	37	chr20	33575071	33575071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcgggaggagcaggcGgaggccgatggcactgagag	20	8	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:33575071G>A	uc002xbi.1	+	14	1346	c.1254G>A	c.(1252-1254)GCG>GCA	p.A418A		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	376	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGAGCAGGCGGAGGCCGATG	0.567													A	33575071	G	A	33575071	2	1	276	1	0	0	0	0	0	0	0	1	10040	1103	39	1		1	MYH7B	20	33575071	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		33575071	29450449	65	142601											
ZNF335	63925	broad.mit.edu	37	chr20	44592422	44592422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggaaggtcgacctcggCgccggggcagagtgtcatgc	17	12	1	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:44592422C>T	uc002xqw.2	-	8	1433	c.1310G>A	c.(1309-1311)CGC>CAC	p.R437H	ZNF335_uc010zxk.1_Missense_Mutation_p.R282H	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCGACCTCGGCGCCGGGGCAG	0.617													T	44592422	C	T	44592422	3	4	276	1	0	0	0	0	1	0	0	0	17849	768	27	1	2802	1	ZNF335	20	44592422	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	11017351	44592422	18433098	66	142602											
PREX1	57580	broad.mit.edu	37	chr20	47260992	47260992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggagctgttacttctcaCgctggtgtaggacaggaccg	14	9	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:47260992C>T	uc002xtw.1	-	27	3579	c.3556G>A	c.(3556-3558)GTG>ATG	p.V1186M	PREX1_uc002xtv.1_Missense_Mutation_p.V483M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1186					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTACTTCTCACGCTGGTGTAG	0.602													T	47260992	C	T	47260992	3	4	276	1	0	0	0	0	1	0	0	0	12476	536	19	1	1479	1	PREX1	20	47260992	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	2668570	47260992	15764528	67	142603											
GNAS	2778	broad.mit.edu	37	chr20	57415370	57415370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccttaacgcccaccaccGctccggcgcccaggtattcc	7	20	0	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:57415370G>A	uc002xzt.2	+	1	576	c.209G>A	c.(208-210)CGC>CAC	p.R70H	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	70					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCACCACCGCTCCGGCGCC	0.677			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57415370	G	A	57415370	3	1	276	1	0	0	0	0	1	0	0	0	6510	1087	38	1	211	1	GNAS	20	57415370	Missense_Mutation	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08	10154378	57415370	5610150	68	142604											
COL20A1	57642	broad.mit.edu	37	chr20	61943088	61943088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgaggcccggggcatcCgtgccaggacccgtgagtgc	17	14	0	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr20:61943088C>T	uc011aau.1	+	13	1751	c.1651C>T	c.(1651-1653)CGT>TGT	p.R551C	COL20A1_uc011aav.1_Missense_Mutation_p.R372C	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	551	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCGGGGCATCCGTGCCAGGAC	0.697													T	61943088	C	T	61943088	3	4	276	1	0	0	0	0	1	0	0	0	3679	652	23	1	1697	1	COL20A1	20	61943088	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08	4527718	61943088	1082432	69	142605											
MYO18B	84700	broad.mit.edu	37	chr22	26194047	26194047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatctaccacctgggtgCggcgggggcctgcaaaggta	15	12	1	0			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chr22:26194047C>T	uc003abz.1	+	12	2754	c.2504C>T	c.(2503-2505)GCG>GTG	p.A835V	MYO18B_uc003aca.1_Missense_Mutation_p.A716V|MYO18B_uc010guy.1_Missense_Mutation_p.A716V|MYO18B_uc010guz.1_Missense_Mutation_p.A716V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.A348V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CACCTGGGTGCGGCGGGGGCC	0.662													T	26194047	C	T	26194047	3	4	276	1	0	0	0	0	1	0	0	0	10066	768	27	1	2546	1	MYO18B	22	26194047	Missense_Mutation	SNP	C	TCGA-HU-A4GY-01A-21D-A24D-08		26194047	25110519	70	142606											
ASMT	438	broad.mit.edu	37	chrX	1755356	1755356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcaaagaccctcttccGgaagctgatctgtacatcct	6	13	4	2			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:1755356G>A	uc004cqd.2	+	9	958	c.813G>A	c.(811-813)CCG>CCA	p.P271P	ASMT_uc010ncy.2_Silent_p.P271P|ASMT_uc004cqe.2_Silent_p.P196P	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	243					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		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)				ACCCTCTTCCGGAAGCTGATC	0.537													A	1755356	G	A	1755356	2	1	276	1	0	0	0	0	0	0	0	1	1045	1103	39	1		1	ASMT	23	1755356	Silent	SNP	G	TCGA-HU-A4GY-01A-21D-A24D-08		1755356	153515204	71	142607											
CLCN4	1183	broad.mit.edu	37	chrX	10176607	10176607	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcaaaatcgtcgttAccatatttacctttggcatg	6	9	2	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:10176607A>T	uc004csy.3	+	9	1796	c.1366A>T	c.(1366-1368)ACC>TCC	p.T456S	CLCN4_uc011mid.1_Missense_Mutation_p.T362S	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	456	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						AATCGTCGTTACCATATTTAC	0.522													T	10176607	A	T	10176607	3	4	276	1	0	0	0	0	1	0	0	0	3465	391	14	5	1392	5	CLCN4	23	10176607	Missense_Mutation	SNP	A	TCGA-HU-A4GY-01A-21D-A24D-08	8421251	10176607	145093953	72	142608											
USP51	158880	broad.mit.edu	37	chrX	55513741	55513741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaagtgaggggattccTggtatgtggtcatccctgct	13	8	2	1			TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:55513741T>C	uc004dun.1	-	2	1711	c.1632A>G	c.(1630-1632)CCA>CCG	p.P544P	USP51_uc011moo.1_Silent_p.P248P	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	544					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						AGGGGATTCCTGGTATGTGGT	0.517													C	55513741	T	C	55513741	2	2	276	1	0	0	0	0	0	0	0	1	17080	1567	55	3		3	USP51	23	55513741	Silent	SNP	T	TCGA-HU-A4GY-01A-21D-A24D-08	45337134	55513741	99756819	73	142609											
AVPR2	554	broad.mit.edu	37	chrX	153171867	153171882	+	Splice_Site	DEL	GAAGGTGGGTGTAGCC	GAAGGTGGGTGTAGCC	-													gggacccggaggcacctctgGaaggtgggtgtagccgtggc							TCGA-HU-A4GY-01A-21D-A24D-08	TCGA-HU-A4GY-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc	e153477b-f9d3-43e6-9dfc-40f1fd9f42ab	g.chrX:153171866_153171881GGAAGGTGGGTGTAGCC>G	uc004fjh.4	+	2	1082	c.910_splice	c.e2+1	p.G304_splice	AVPR2_uc004fjg.4_Splice_Site_p.G93_splice|AVPR2_uc004fji.3_Frame_Shift_Del_p.L302fs	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	304					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGG	0.648													-	153171882	GAAGGTGGGTGTAGCC	-	153171867	8	5	276	1	0	1	0	1	0	0	1	0	1233	1175	41	0	913	0	AVPR2	23	153171867	Splice_Site	DEL	GAAGGTGGGTGTAGCC	TCGA-HU-A4GY-01A-21D-A24D-08	97658126	153171867	2098693	74	142610											
PRDM16	63976	broad.mit.edu	37	chr1	3335280	3335280	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctcaccagacacctgAggacgcacactggggagcag	11	14	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:3335280A>T	uc001akf.2	+	12	2991	c.2911A>T	c.(2911-2913)AGG>TGG	p.R971W	PRDM16_uc001akc.2_Missense_Mutation_p.R970W|PRDM16_uc001akd.2_Missense_Mutation_p.R970W|PRDM16_uc001ake.2_Missense_Mutation_p.R971W|PRDM16_uc009vlh.2_Missense_Mutation_p.R671W	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	971	Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity).				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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	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)		CAGACACCTGAGGACGCACAC	0.652			T	EVI1	MDS|AML								T	3335280	A	T	3335280	3	4	277	1	0	0	0	0	1	0	0	0	12457	295	11	5	2957	5	PRDM16	1	3335280	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08		3335280	245915341	1	142611											
MEGF6	1953	broad.mit.edu	37	chr1	3409280	3409280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcagtcagccccacccCcgcagtcacagtgcagggtg	13	16	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:3409280C>T	uc001akl.2	-	35	4666	c.4439G>A	c.(4438-4440)GGG>GAG	p.G1480E	MEGF6_uc001akk.2_Missense_Mutation_p.G1168E	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1480	EGF-like 27.					extracellular region	calcium ion binding			large_intestine(1)	1	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)		AGCCCCACCCCCGCAGTCACA	0.642													T	3409280	C	T	3409280	3	4	277	1	0	0	0	0	1	0	0	0	9462	623	22	4	198	4	MEGF6	1	3409280	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	74000	3409280	245841341	2	142612											
HSPG2	3339	broad.mit.edu	37	chr1	22188486	22188486	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctagggtacccacatgttCtctgggttggtcagtgggca	14	9	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:22188486C>A	uc001bfj.2	-	38	4903	c.4863G>T	c.(4861-4863)GAG>GAT	p.E1621D	HSPG2_uc009vqd.2_Missense_Mutation_p.E1622D	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1621	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	CCCACATGTTCTCTGGGTTGG	0.602													A	22188486	C	A	22188486	3	1	277	1	0	0	0	0	1	0	0	0	7430	912	32	5	8552	5	HSPG2	1	22188486	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	18779206	22188486	227062135	3	142613											
PTPRU	10076	broad.mit.edu	37	chr1	29639111	29639111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagttccacttcacagcGtggccagagcatggcgtccc	11	16	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:29639111G>A	uc001bru.2	+	23	3260	c.3150G>A	c.(3148-3150)GCG>GCA	p.A1050A	PTPRU_uc001brv.2_Silent_p.A1046A|PTPRU_uc001brw.2_Silent_p.A1040A|PTPRU_uc009vtq.2_Silent_p.A1046A|PTPRU_uc009vtr.2_Silent_p.A1037A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1050	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		ACTTCACAGCGTGGCCAGAGC	0.617													A	29639111	G	A	29639111	2	1	277	1	0	0	0	0	0	0	0	1	12813	1132	40	1		1	PTPRU	1	29639111	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	7450625	29639111	219611510	4	142614											
HIVEP3	59269	broad.mit.edu	37	chr1	42047444	42047444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtcaaaggatttgctgcGtgtctcggtcatgtgggcag	14	7	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:42047444G>A	uc001cgz.3	-	4	4238	c.3025C>T	c.(3025-3027)CGC>TGC	p.R1009C	HIVEP3_uc001cha.3_Missense_Mutation_p.R1009C|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1009	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATTTGCTGCGTGTCTCGGTC	0.612													A	42047444	G	A	42047444	3	1	277	1	0	0	0	0	1	0	0	0	7188	1145	40	1	4219	1	HIVEP3	1	42047444	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	12408333	42047444	207203177	5	142615											
CYP4A22	284541	broad.mit.edu	37	chr1	47610317	47610317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacagccagtgggatctcCtggatcctctatgctctggc	10	14	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:47610317C>T	uc001cqv.1	+	8	1044	c.993C>T	c.(991-993)TCC>TCT	p.S331S	CYP4A22_uc009vyo.2_Silent_p.S331S|CYP4A22_uc009vyp.2_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	331						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						GTGGGATCTCCTGGATCCTCT	0.592													T	47610317	C	T	47610317	2	4	277	1	0	0	0	0	0	0	0	1	4184	668	24	4		4	CYP4A22	1	47610317	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	5562873	47610317	201640304	6	142616											
ELAVL4	1996	broad.mit.edu	37	chr1	50666696	50666696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaacgtaaaggtgattcGtgacttcaacaccaacaagt	8	9	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:50666696G>A	uc001csb.2	+	7	1257	c.989G>A	c.(988-990)CGT>CAT	p.R330H	ELAVL4_uc001cry.3_Missense_Mutation_p.R319H|ELAVL4_uc001crz.3_Missense_Mutation_p.R316H|ELAVL4_uc001csa.3_Missense_Mutation_p.R333H|ELAVL4_uc001csc.3_Missense_Mutation_p.R316H|ELAVL4_uc010omz.1_Missense_Mutation_p.R321H	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	330	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						AAGGTGATTCGTGACTTCAAC	0.542													A	50666696	G	A	50666696	3	1	277	1	0	0	0	0	1	0	0	0	5052	1145	40	1	1114	1	ELAVL4	1	50666696	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	3056379	50666696	198583925	7	142617											
SGIP1	84251	broad.mit.edu	37	chr1	67098778	67098781	+	Splice_Site	DEL	GTAA	GTAA	-													caccagatagagatggaattGtaagtatttaaataaccatt							TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:67098777_67098780TGTAA>T	uc001dcr.3	+	3	316	c.99_splice	c.e3+1	p.I33_splice		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	33					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid 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						GAGATGGAATTGTAAGTATTTAAA	0.299													-	67098781	GTAA	-	67098778	8	5	277	1	0	1	0	1	0	0	1	0	14206	1391	48	0	110	0	SGIP1	1	67098778	Splice_Site	DEL	GTAA	TCGA-HU-A4H0-01A-11D-A25D-08	16432082	67098778	182151843	8	142618											
DENND2C	163259	broad.mit.edu	37	chr1	115130565	115130565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggacaccagagagttgaGtgtcacatctgctgcaacat	10	10	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:115130565G>A	uc001efd.1	-	19	3142	c.2440C>T	c.(2440-2442)CTC>TTC	p.L814F	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.L757F	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	814	dDENN.									skin(3)	3	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)		AGAGAGTTGAGTGTCACATCT	0.423													A	115130565	G	A	115130565	3	1	277	1	0	0	0	0	1	0	0	0	4430	1029	36	4	358	4	DENND2C	1	115130565	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	48031787	115130565	134120056	9	142619											
TSHB	7252	broad.mit.edu	37	chr1	115576036	115576036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccttacatgtgggcaagCgatgtctttttgtattccaa	10	8	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:115576036C>T	uc001efs.1	+	2	121	c.53C>T	c.(52-54)GCG>GTG	p.A18V		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	18					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGTGGGCAAGCGATGTCTTTT	0.383													T	115576036	C	T	115576036	3	4	277	1	0	0	0	0	1	0	0	0	16618	768	27	1	55	1	TSHB	1	115576036	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	445471	115576036	133674585	10	142620											
BCL9	607	broad.mit.edu	37	chr1	147084944	147084944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagcgaagtatttccgccGactcctttgatcagagagat	12	9	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:147084944G>A	uc001epq.2	+	5	1056	c.316G>A	c.(316-318)GAC>AAC	p.D106N	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	106					Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TATTTCCGCCGACTCCTTTGA	0.517			T	IGH@|IGL@	B-ALL								A	147084944	G	A	147084944	3	1	277	1	0	0	0	0	1	0	0	0	1381	1058	37	1	322	1	BCL9	1	147084944	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	31508908	147084944	102165677	11	142621											
GJA8	2703	broad.mit.edu	37	chr1	147381125	147381127	+	In_Frame_Del	DEL	AGA	AGA	-													agccgaacccgaggtgggagAgaagaaggaggaagcagaga							TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:147381125_147381127delAGA	uc001epu.1	+	2	1106_1108	c.1043_1045delAGA	c.(1042-1047)GAGAAG>GAG	p.K350del		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	350	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GAGGTGGGAGAGAAGAAGGAGGA	0.635													-	147381127	AGA	-	147381125	7	5	277	1	0	1	0	1	0	0	0	0	6405	304	11	0	1045	0	GJA8	1	147381125	In_Frame_Del	DEL	AGA	TCGA-HU-A4H0-01A-11D-A25D-08	296181	147381125	101869496	12	142622											
CD1C	911	broad.mit.edu	37	chr1	158259915	158259915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtgacaatgcagacGgtaagaacatcgctgtcagc	13	9	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:158259915G>A	uc001fru.2	+	1	353	c.61G>A	c.(61-63)GCA>ACA	p.A21T	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	21	Extracellular (Potential).				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			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CAATGCAGACGGTAAGAACAT	0.473													A	158259915	G	A	158259915	3	1	277	1	0	0	0	0	1	0	0	0	2976	1130	39	1	63	1	CD1C	1	158259915	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	10878790	158259915	90990706	13	142623											
SPTA1	6708	broad.mit.edu	37	chr1	158650415	158650415	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggttcacttcaacaactctCccttctttagctaccagctc	4	15	4	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:158650415C>T	uc001fst.1	-	5	835	c.636G>A	c.(634-636)GGG>GGA	p.G212G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	212	Spectrin 3.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAACAACTCTCCCTTCTTTAG	0.458													T	158650415	C	T	158650415	2	4	277	1	0	0	0	0	0	0	0	1	15115	842	30	4		4	SPTA1	1	158650415	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	390500	158650415	90600206	14	142624											
NCSTN	23385	broad.mit.edu	37	chr1	160321051	160321051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcagaatggctcagcaCcaaccttcccactatgtgcc	8	14	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:160321051C>T	uc001fvx.2	+	6	746	c.622C>T	c.(622-624)CCA>TCA	p.P208S	NCSTN_uc001fvy.2_Missense_Mutation_p.P188S|NCSTN_uc010pjf.1_Intron|NCSTN_uc001fvz.2_Intron|NCSTN_uc010pjg.1_Intron	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	208	Extracellular (Potential).				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			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTCAGCACCAACCTTCCC	0.542													T	160321051	C	T	160321051	3	4	277	1	0	0	0	0	1	0	0	0	10241	507	18	4	644	4	NCSTN	1	160321051	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	1670636	160321051	88929570	15	142625											
ZBTB41	360023	broad.mit.edu	37	chr1	197168618	197168618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggttcttcttctgcatcaTtatgatccttttcactttgt	5	10	5	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:197168618T>C	uc001gtx.1	-	1	1055	c.986A>G	c.(985-987)AAT>AGT	p.N329S	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TTCTGCATCATTATGATCCTT	0.413													C	197168618	T	C	197168618	3	2	277	1	0	0	0	0	1	0	0	0	17540	1493	52	3	1783	3	ZBTB41	1	197168618	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	36847567	197168618	52082003	16	142626											
CR2	1380	broad.mit.edu	37	chr1	207642548	207642548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattgctggacagggagTtgcttggaccaaaatgccag	13	7	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:207642548T>C	uc001hfw.2	+	5	882	c.788T>C	c.(787-789)GTT>GCT	p.V263A	CR2_uc001hfv.2_Missense_Mutation_p.V263A|CR2_uc009xch.2_Missense_Mutation_p.V263A|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	263	Sushi 4.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GGACAGGGAGTTGCTTGGACC	0.463													C	207642548	T	C	207642548	3	2	277	1	0	0	0	0	1	0	0	0	3842	1725	60	3	806	3	CR2	1	207642548	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	10473930	207642548	41608073	17	142627											
PTPN14	5784	broad.mit.edu	37	chr1	214556785	214556785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttccgagatggatgggcCgagagaggccccgttgacag	18	9	0	3	rs146980027		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:214556785C>T	uc001hkk.1	-	13	2684	c.2413G>A	c.(2413-2415)GGC>AGC	p.G805S	PTPN14_uc010pty.1_Missense_Mutation_p.G706S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	805					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATGGATGGGCCGAGAGAGGCC	0.602													T	214556785	C	T	214556785	3	4	277	1	0	0	0	0	1	0	0	0	12783	652	23	1	1178	1	PTPN14	1	214556785	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	6914237	214556785	34693836	18	142628											
HEATR1	55127	broad.mit.edu	37	chr1	236735824	236735824	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtaagaacctccaacTtcctgaacagattctagatc	6	12	1	4	rs149288116		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:236735824T>C	uc001hyd.1	-	26	3719	c.3594A>G	c.(3592-3594)GAA>GAG	p.E1198E	HEATR1_uc009xgh.1_Silent_p.E360E	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1198					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACCTCCAACTTCCTGAACAG	0.393													C	236735824	T	C	236735824	2	2	277	1	0	0	0	0	0	0	0	1	7027	1606	56	3		3	HEATR1	1	236735824	Silent	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	22179039	236735824	12514797	19	142629											
OR1C1	26188	broad.mit.edu	37	chr1	247920825	247920825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcccctcttcatatccCtgttccttagggtatagatg	8	11	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:247920825C>T	uc010pza.1	-	1	884	c.884G>A	c.(883-885)AGG>AAG	p.R295K		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			CTTCATATCCCTGTTCCTTAG	0.438													T	247920825	C	T	247920825	3	4	277	1	0	0	0	0	1	0	0	0	10952	681	24	4	62	4	OR1C1	1	247920825	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	11185001	247920825	1329796	20	142630											
OR1C1	26188	broad.mit.edu	37	chr1	247921329	247921329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtaatgtaaggggtggCaaatcgccacatatctatca	11	8	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr1:247921329C>A	uc010pza.1	-	1	380	c.380G>T	c.(379-381)TGC>TTC	p.C127F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			TAAGGGGTGGCAAATCGCCAC	0.502													A	247921329	C	A	247921329	3	1	277	1	0	0	0	0	1	0	0	0	10952	710	25	5	566	5	OR1C1	1	247921329	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	504	247921329	1329292	21	142631											
EIF2B4	8890	broad.mit.edu	37	chr2	27592028	27592028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagctggaactttctccCgaggagtgcccaactgaatg	11	12	1	1	rs146262118		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:27592028C>T	uc002rkb.2	-	4	406	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	EIF2B4_uc002rjz.2_Missense_Mutation_p.R108Q|EIF2B4_uc002rka.2_Missense_Mutation_p.R73Q|EIF2B4_uc002rkc.2_Missense_Mutation_p.R87Q|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.R57Q|EIF2B4_uc002rkf.1_Missense_Mutation_p.R57Q|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	88					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTTCTCCCGAGGAGTGCC	0.547													T	27592028	C	T	27592028	3	4	277	1	0	0	0	0	1	0	0	0	5003	652	23	1	1348	1	EIF2B4	2	27592028	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08		27592028	215607345	22	142632											
FAM179A	165186	broad.mit.edu	37	chr2	29274846	29274846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcacgtcctcaagacgCtccaggaactcttagactca	7	14	3	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:29274846C>T	uc010ezl.2	+	20	3298	c.2947C>T	c.(2947-2949)CTC>TTC	p.L983F	FAM179A_uc010ymm.1_Missense_Mutation_p.L928F|FAM179A_uc002rmr.3_Missense_Mutation_p.L510F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	983							binding			ovary(3)|skin(1)	4						CCTCAAGACGCTCCAGGAACT	0.637													T	29274846	C	T	29274846	3	4	277	1	0	0	0	0	1	0	0	0	5505	797	28	2	3021	2	FAM179A	2	29274846	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	1682818	29274846	213924527	23	142633											
PRKCE	5581	broad.mit.edu	37	chr2	46203658	46203658	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagggtccatcaggtcaAcggccacaagttcatggcca	12	13	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:46203658A>T	uc002rut.2	+	3	700	c.503A>T	c.(502-504)AAC>ATC	p.N168I		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	168					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			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CATCAGGTCAACGGCCACAAG	0.577													T	46203658	A	T	46203658	3	4	277	1	0	0	0	0	1	0	0	0	12511	43	2	5	513	5	PRKCE	2	46203658	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	16928812	46203658	196995715	24	142634											
MITD1	129531	broad.mit.edu	37	chr2	99790441	99790441	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgtatttggaaatttTttctctgagattacatctct	6	7	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:99790441T>G	uc002szs.1	-	2	238	c.190A>C	c.(190-192)AAA>CAA	p.K64Q	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport,	64	MIT.				protein transport	late endosome membrane				large_intestine(1)|ovary(1)	2						TTGGAAATTTTTTCTCTGAGA	0.279													G	99790441	T	G	99790441	3	3	277	1	0	0	0	0	1	0	0	0	9595	1850	64	5	583	5	MITD1	2	99790441	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	53586783	99790441	143408932	25	142635											
NCKAP5	344148	broad.mit.edu	37	chr2	133542904	133542904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtggcctgcagctctGgtttggaactgcttggagca	14	10	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:133542904G>T	uc002ttp.2	-	14	1854	c.1480C>A	c.(1480-1482)CAG>AAG	p.Q494K	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	494							protein binding				0						CTGCAGCTCTGGTTTGGAACT	0.488													T	133542904	G	T	133542904	3	4	277	1	0	0	0	0	1	0	0	0	10223	1357	47	5	4277	5	NCKAP5	2	133542904	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	33752463	133542904	109656469	26	142636											
DHRS9	10170	broad.mit.edu	37	chr2	169938324	169938324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacctcagagagacttcGtactgtgcttctggatgtga	11	8	2	4			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:169938324G>A	uc002uep.2	+	5	1737	c.233G>A	c.(232-234)CGT>CAT	p.R78H	DHRS9_uc002ueq.2_Missense_Mutation_p.R78H|DHRS9_uc010zdc.1_Missense_Mutation_p.R138H|DHRS9_uc002uer.1_Missense_Mutation_p.R78H|DHRS9_uc010zdd.1_Missense_Mutation_p.R78H|DHRS9_uc010zde.1_Missense_Mutation_p.R78H	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	78					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				0						GAGAGACTTCGTACTGTGCTT	0.483													A	169938324	G	A	169938324	3	1	277	1	0	0	0	0	1	0	0	0	4498	1145	40	1	235	1	DHRS9	2	169938324	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	36395420	169938324	73261049	27	142637											
CIR1	9541	broad.mit.edu	37	chr2	175252479	175252479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgtttcttcttatcaTatgatattttctgttctgcc	4	9	6	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:175252479T>C	uc002uim.2	-	2	194	c.101A>G	c.(100-102)TAT>TGT	p.Y34C	CIR1_uc002uin.2_Translation_Start_Site|CIR1_uc002uio.2_Translation_Start_Site|CIR1_uc002uip.2_Translation_Start_Site	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	34	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			large_intestine(1)	1						CTTCTTATCATATGATATTTT	0.269													C	175252479	T	C	175252479	3	2	277	1	0	0	0	0	1	0	0	0	3432	1406	49	3	1287	3	CIR1	2	175252479	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	5314155	175252479	67946894	28	142638											
SESTD1	91404	broad.mit.edu	37	chr2	180008385	180008385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgcctacaaacttcctgGtagcgggtatattgctctcg	10	11	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:180008385G>A	uc002uni.3	-	9	933	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	261					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAACTTCCTGGTAGCGGGTAT	0.423													A	180008385	G	A	180008385	2	1	277	1	0	0	0	0	0	0	0	1	14127	1256	44	4		4	SESTD1	2	180008385	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4755906	180008385	63190988	29	142639											
ASNSD1	54529	broad.mit.edu	37	chr2	190535319	190535319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcctctgctcttctgcCcaaacgggccatgcagtttg	9	14	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:190535319C>T	uc002uqt.2	+	6	2233	c.1799C>T	c.(1798-1800)CCC>CTC	p.P600L		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	600	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GCTCTTCTGCCCAAACGGGCC	0.418													T	190535319	C	T	190535319	3	4	277	1	0	0	0	0	1	0	0	0	1049	623	22	4	1809	4	ASNSD1	2	190535319	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	10526934	190535319	52664054	30	142640											
STAT1	6772	broad.mit.edu	37	chr2	191864393	191864393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgaagtcatattcatctTgtaaatcttccaggctcttg	6	8	5	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:191864393T>C	uc002usj.2	-	7	888	c.500A>G	c.(499-501)CAA>CGA	p.Q167R	STAT1_uc010fse.1_Missense_Mutation_p.Q167R|STAT1_uc002usk.2_Missense_Mutation_p.Q167R|STAT1_uc002usl.2_Missense_Mutation_p.Q169R|STAT1_uc010fsf.1_Missense_Mutation_p.K10E	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	167					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			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATATTCATCTTGTAAATCTTC	0.388													C	191864393	T	C	191864393	3	2	277	1	0	0	0	0	1	0	0	0	15263	1812	63	3	1832	3	STAT1	2	191864393	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	1329074	191864393	51334980	31	142641											
INO80D	54891	broad.mit.edu	37	chr2	206869610	206869610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaaaaggtagctgccaTattatcaccagagtacgatg	10	8	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr2:206869610T>C	uc002vaz.3	-	11	2971	c.2566A>G	c.(2566-2568)ATG>GTG	p.M856V		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	856					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GTAGCTGCCATATTATCACCA	0.527													C	206869610	T	C	206869610	3	2	277	1	0	0	0	0	1	0	0	0	7749	1406	49	3	521	3	INO80D	2	206869610	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	15005217	206869610	36329763	32	142642											
WDR48	57599	broad.mit.edu	37	chr3	39107333	39107333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagcatctatggaacaccAtactgattgggtaaacgaca	8	8	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:39107333A>G	uc003cit.2	+	3	231	c.221A>G	c.(220-222)CAT>CGT	p.H74R	WDR48_uc011ayt.1_Missense_Mutation_p.H74R|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	74	WD 2.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGGAACACCATACTGATTGG	0.284													G	39107333	A	G	39107333	3	3	277	1	0	0	0	0	1	0	0	0	17298	217	8	3	231	3	WDR48	3	39107333	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08		39107333	158915097	33	142643											
RHOA	387	broad.mit.edu	37	chr3	49405954	49405954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatcataatcttcctgccCagctgtgtcccacaaagcca	7	15	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:49405954C>T	uc003cwu.2	-	3	460	c.184G>A	c.(184-186)GGG>AGG	p.G62R	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	62	GTP (By similarity).				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			ovary(2)	2				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)	TCTTCCTGCCCAGCTGTGTCC	0.473													T	49405954	C	T	49405954	3	4	277	1	0	0	0	0	1	0	0	0	13331	594	21	4	409	4	RHOA	3	49405954	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	10298621	49405954	148616476	34	142644											
STXBP5L	9515	broad.mit.edu	37	chr3	120871364	120871364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtactgtagtattctgggActtgaaatctaaaagagcag	11	5	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:120871364A>G	uc003eec.3	+	8	850	c.710A>G	c.(709-711)GAC>GGC	p.D237G	STXBP5L_uc011bji.1_Missense_Mutation_p.D237G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	237	WD 4.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GTATTCTGGGACTTGAAATCT	0.318													G	120871364	A	G	120871364	3	3	277	1	0	0	0	0	1	0	0	0	15356	275	10	3	736	3	STXBP5L	3	120871364	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	71465410	120871364	77151066	35	142645											
MED12L	116931	broad.mit.edu	37	chr3	151073819	151073819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacggactaattgacttcGcaatacaggtgtcaaagaga	9	8	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:151073819G>A	uc003eyp.2	+	17	2586	c.2548G>A	c.(2548-2550)GCA>ACA	p.A850T	MED12L_uc011bnz.1_Missense_Mutation_p.A710T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A14T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	850					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTGACTTCGCAATACAGGT	0.403													A	151073819	G	A	151073819	3	1	277	1	0	0	0	0	1	0	0	0	9429	1087	38	1	2614	1	MED12L	3	151073819	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	30202455	151073819	46948611	36	142646											
PIK3CA	5290	broad.mit.edu	37	chr3	178922370	178922370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagagtaccttgttccaAtcccaggtaaggaagtatat	8	8	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:178922370A>G	uc003fjk.2	+	6	1296	c.1139A>G	c.(1138-1140)AAT>AGT	p.N380S		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	380	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			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			CCTTGTTCCAATCCCAGGTAA	0.303		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178922370	A	G	178922370	3	3	277	1	0	0	0	0	1	0	0	0	11913	101	4	3	1157	3	PIK3CA	3	178922370	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	27848551	178922370	19100060	37	142647											
FGF12	2257	broad.mit.edu	37	chr3	192125831	192125831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctggtctccgcctcaccGgcctcttgcggccgctgcag	12	18	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:192125831G>A	uc003fsx.2	-	1	1008	c.182C>T	c.(181-183)CCG>CTG	p.P61L	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	61					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	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)		CCGCCTCACCGGCCTCTTGCG	0.672													A	192125831	G	A	192125831	3	1	277	1	0	0	0	0	1	0	0	0	5841	1116	39	1	569	1	FGF12	3	192125831	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	13203461	192125831	5896599	38	142648											
MUC20	200958	broad.mit.edu	37	chr3	195451990	195451990	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacagaagctaagggcctGtcctcagagagcagcgcctc	11	14	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr3:195451990G>T	uc010hzo.2	+	2	642	c.516G>T	c.(514-516)CTG>CTT	p.L172L	MUC20_uc010hzp.2_Silent_p.L137L|MUC20_uc011bte.1_5'Flank	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	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)		CTAAGGGCCTGTCCTCAGAGA	0.577													T	195451990	G	T	195451990	2	4	277	1	0	0	0	0	0	0	0	1	9976	1364	48	5		5	MUC20	3	195451990	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	3326159	195451990	2570440	39	142649											
FAT4	79633	broad.mit.edu	37	chr4	126372362	126372362	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatgtcaccgtgcttgaTgcaaatgacccacccatttt	7	11	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr4:126372362T>A	uc003ifj.3	+	9	10191	c.10191T>A	c.(10189-10191)GAT>GAA	p.D3397E	FAT4_uc011cgp.1_Missense_Mutation_p.D1695E|FAT4_uc003ifi.1_Missense_Mutation_p.D875E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3397	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCGTGCTTGATGCAAATGACC	0.433													A	126372362	T	A	126372362	3	1	277	1	0	0	0	0	1	0	0	0	5692	1461	51	5	10225	5	FAT4	4	126372362	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08		126372362	64781914	40	142650											
PCDH10	57575	broad.mit.edu	37	chr4	134073070	134073070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgtgaggtgctgccccGctcggcggagccgggttacc	17	14	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr4:134073070G>A	uc003iha.2	+	1	2601	c.1775G>A	c.(1774-1776)CGC>CAC	p.R592H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R592H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	592	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGCTGCCCCGCTCGGCGGAG	0.657													A	134073070	G	A	134073070	3	1	277	1	0	0	0	0	1	0	0	0	11507	1087	38	1	1777	1	PCDH10	4	134073070	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	7700708	134073070	57081206	41	142651											
DCHS2	54798	broad.mit.edu	37	chr4	155219548	155219548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcaccagaagcctcatcaGtcagaaaatactcagtttgc	7	11	4	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr4:155219548G>T	uc003inw.2	-	18	4553	c.4553C>A	c.(4552-4554)ACT>AAT	p.T1518N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1518	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCCTCATCAGTCAGAAAATA	0.473													T	155219548	G	T	155219548	3	4	277	1	0	0	0	0	1	0	0	0	4288	1029	36	5	4229	5	DCHS2	4	155219548	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	21146478	155219548	35934728	42	142652											
PRDM9	56979	broad.mit.edu	37	chr5	23526774	23526774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaattgcaaaagtcaagtAtggagagtgtggacaaggtt	13	3	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:23526774A>G	uc003jgo.2	+	11	1759	c.1577A>G	c.(1576-1578)TAT>TGT	p.Y526C		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	526	C2H2-type 2; degenerate.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AAAGTCAAGTATGGAGAGTGT	0.453										HNSCC(3;0.000094)			G	23526774	A	G	23526774	3	3	277	1	0	0	0	0	1	0	0	0	12463	449	16	3	1615	3	PRDM9	5	23526774	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08		23526774	157388486	43	142653											
CDH10	1008	broad.mit.edu	37	chr5	24593377	24593377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaagcttaccttgcctaCgtactgataatcagatcctg	6	12	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:24593377C>T	uc003jgr.1	-	2	555	c.223G>A	c.(223-225)GTA>ATA	p.V75I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	75	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ACCTTGCCTACGTACTGATAA	0.333										HNSCC(23;0.051)			T	24593377	C	T	24593377	3	4	277	1	0	0	0	0	1	0	0	0	3096	536	19	1	2187	1	CDH10	5	24593377	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	1066603	24593377	156321883	44	142654											
FST	10468	broad.mit.edu	37	chr5	52780919	52780919	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccggtgttccctctgtgatGagctgtgccctgacagtaag	13	11	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:52780919G>A	uc003jpd.2	+	5	841	c.814G>A	c.(814-816)GAG>AAG	p.E272K	FST_uc003jpc.2_Missense_Mutation_p.E272K	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	272	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CCTCTGTGATGAGCTGTGCCC	0.517													A	52780919	G	A	52780919	3	1	277	1	0	0	0	0	1	0	0	0	6076	1291	45	4	832	4	FST	5	52780919	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	28187542	52780919	128134341	45	142655											
CD180	4064	broad.mit.edu	37	chr5	66478868	66478868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacacgtggtctcctccgaGccttcaagtttgtgcaggtt	11	12	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:66478868G>A	uc003juy.2	-	3	1951	c.1803C>T	c.(1801-1803)GGC>GGT	p.G601G		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	601	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		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)		TCTCCTCCGAGCCTTCAAGTT	0.448													A	66478868	G	A	66478868	2	1	277	1	0	0	0	0	0	0	0	1	2972	958	34	2		2	CD180	5	66478868	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	13697949	66478868	114436392	46	142656											
RASGRF2	5924	broad.mit.edu	37	chr5	80369248	80369248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccatcagccacgacgaCgtcagcagtatttttcttaa	6	15	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:80369248C>T	uc003kha.1	+	5	864	c.864C>T	c.(862-864)GAC>GAT	p.D288D	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.D116D	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	288	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			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		GCCACGACGACGTCAGCAGTA	0.448													T	80369248	C	T	80369248	2	4	277	1	0	0	0	0	0	0	0	1	13073	535	19	1		1	RASGRF2	5	80369248	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	13890380	80369248	100546012	47	142657											
MEF2C	4208	broad.mit.edu	37	chr5	88018547	88018547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcctctcggtcgctcccGtcgtacgaactgctacagct	9	15	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:88018547G>A	uc003kjj.2	-	11	1969	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D	MEF2C_uc003kji.2_Silent_p.D424D|MEF2C_uc003kjk.2_Silent_p.D432D|MEF2C_uc003kjm.2_Silent_p.D422D|MEF2C_uc003kjl.2_Silent_p.D442D	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	432		Cleavage (Probable).		D->A: Abolishes cleavage by caspase 7.	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			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		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)		GGTCGCTCCCGTCGTACGAAC	0.597										HNSCC(66;0.2)			A	88018547	G	A	88018547	2	1	277	1	0	0	0	0	0	0	0	1	9457	1136	40	1		1	MEF2C	5	88018547	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	7649299	88018547	92896713	48	142658											
NR2F1	7025	broad.mit.edu	37	chr5	92923850	92923850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcctgctcttcagcgccGtcgagtgggcccgcaacatc	12	17	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:92923850G>A	uc003kkj.2	+	2	2378	c.691G>A	c.(691-693)GTC>ATC	p.V231I		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	231					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			urinary_tract(1)|ovary(1)|lung(1)	3		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)		CTTCAGCGCCGTCGAGTGGGC	0.637													A	92923850	G	A	92923850	3	1	277	1	0	0	0	0	1	0	0	0	10627	1145	40	1	697	1	NR2F1	5	92923850	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4905303	92923850	87991410	49	142659											
PSD2	84249	broad.mit.edu	37	chr5	139189211	139189211	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacactgaggaacccacgaaGgacccagatgtggccttcca	11	13	0	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:139189211G>T	uc003leu.1	+	2	391	c.186G>T	c.(184-186)AAG>AAT	p.K62N		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	62					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCACGAAGGACCCAGATG	0.627													T	139189211	G	T	139189211	3	4	277	1	0	0	0	0	1	0	0	0	12647	991	35	5	188	5	PSD2	5	139189211	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	46265361	139189211	41726049	50	142660											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745174	140745174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcactttaaccgtcatggAccatggaaccccgcccctct	6	16	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:140745174A>G	uc003lju.1	+	1	1277	c.1277A>G	c.(1276-1278)GAC>GGC	p.D426G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D426G	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	426	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGTCATGGACCATGGAACC	0.448													G	140745174	A	G	140745174	3	3	277	1	0	0	0	0	1	0	0	0	11557	275	10	3	1279	3	PCDHGA5	5	140745174	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	1555963	140745174	40170086	51	142661											
PCDHGC4	56098	broad.mit.edu	37	chr5	140864960	140864960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaggtgaaccaaagaCacttccgtgtggatttggac	13	8	0	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:140864960C>T	uc003lky.1	+	1	220	c.220C>T	c.(220-222)CAC>TAC	p.H74Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.H74Y	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	74	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCAAAGACACTTCCGTGT	0.572													T	140864960	C	T	140864960	3	4	277	1	0	0	0	0	1	0	0	0	11570	478	17	4	222	4	PCDHGC4	5	140864960	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	119786	140864960	40050300	52	142662											
POU4F3	5459	broad.mit.edu	37	chr5	145719209	145719209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacggcaagaaccatccGttcaagcccgacgccaccta	7	18	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:145719209G>A	uc003loa.2	+	2	308	c.219G>A	c.(217-219)CCG>CCA	p.P73P		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	73					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCATCCGTTCAAGCCCG	0.607													A	145719209	G	A	145719209	2	1	277	1	0	0	0	0	0	0	0	1	12280	1132	40	1		1	POU4F3	5	145719209	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4854249	145719209	35196051	53	142663											
POU4F3	5459	broad.mit.edu	37	chr5	145719700	145719700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcgagtctctcactctctCgcacaacaacatgatcgctc	6	15	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:145719700C>T	uc003loa.2	+	2	799	c.710C>T	c.(709-711)TCG>TTG	p.S237L		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	237	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACTCTCTCGCACAACAAC	0.617													T	145719700	C	T	145719700	3	4	277	1	0	0	0	0	1	0	0	0	12280	893	31	1	716	1	POU4F3	5	145719700	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	491	145719700	35195560	54	142664											
JAKMIP2	9832	broad.mit.edu	37	chr5	147012306	147012306	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgtcctgtagttcttgTtgtaaccggtgattttctgc	11	9	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:147012306T>A	uc003loq.1	-	13	2095	c.1713A>T	c.(1711-1713)CAA>CAT	p.Q571H	JAKMIP2_uc011dbx.1_Missense_Mutation_p.Q529H|JAKMIP2_uc003lor.1_Missense_Mutation_p.Q550H|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Q571H	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	571	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGTTCTTGTTGTAACCGGT	0.378													A	147012306	T	A	147012306	3	1	277	1	0	0	0	0	1	0	0	0	7941	1722	60	5	755	5	JAKMIP2	5	147012306	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	1292606	147012306	33902954	55	142665											
SOX30	11063	broad.mit.edu	37	chr5	157073704	157073704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagagtacgtaggtgagCggtaaggataaactgttgta	13	6	0	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:157073704C>T	uc003lxb.1	-	3	1670	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H	SOX30_uc003lxc.1_Missense_Mutation_p.R443H|SOX30_uc011dds.1_Missense_Mutation_p.R138H	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	443					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			CGTAGGTGAGCGGTAAGGATA	0.393													T	157073704	C	T	157073704	3	4	277	1	0	0	0	0	1	0	0	0	14952	768	27	1	945	1	SOX30	5	157073704	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	10061398	157073704	23841556	56	142666											
SOX30	11063	broad.mit.edu	37	chr5	157078519	157078519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcgagtctctcatgacctCctccgcctccagcttgccct	6	19	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:157078519C>T	uc003lxb.1	-	1	910	c.568G>A	c.(568-570)GAG>AAG	p.E190K	SOX30_uc003lxc.1_Missense_Mutation_p.E190K|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	190					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			CTCATGACCTCCTCCGCCTCC	0.637													T	157078519	C	T	157078519	3	4	277	1	0	0	0	0	1	0	0	0	14952	864	30	4	1713	4	SOX30	5	157078519	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	4815	157078519	23836741	57	142667											
GABRG2	2566	broad.mit.edu	37	chr5	161569188	161569188	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggagattatgtggtcatgtCtgtctactttgatctgagca	11	6	4	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr5:161569188C>T	uc003lyz.3	+	7	1146	c.788C>T	c.(787-789)TCT>TTT	p.S263F	GABRG2_uc010jjc.2_Missense_Mutation_p.S303F|GABRG2_uc003lyy.3_Missense_Mutation_p.S263F|GABRG2_uc011dej.1_Missense_Mutation_p.S168F	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	263	Extracellular (Probable).				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			ovary(4)|skin(1)	5	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)		GTGGTCATGTCTGTCTACTTT	0.403													T	161569188	C	T	161569188	3	4	277	1	0	0	0	0	1	0	0	0	6172	913	32	4	938	4	GABRG2	5	161569188	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	4490669	161569188	19346072	58	142668											
VARS2	57176	broad.mit.edu	37	chr6	30882769	30882769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaacagaagcgcctgcgAgagaagcaggcgactctgga	14	11	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:30882769A>G	uc003nsc.1	+	1	788	c.156A>G	c.(154-156)CGA>CGG	p.R52R	GTF2H4_uc003nsb.1_3'UTR|VARS2_uc003nsd.2_Silent_p.R52R|VARS2_uc011dmx.1_Silent_p.R52R|VARS2_uc011dmy.1_Intron|VARS2_uc011dmz.1_Silent_p.R82R|VARS2_uc011dna.1_Silent_p.R52R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	52					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						AGCGCCTGCGAGAGAAGCAGG	0.597													G	30882769	A	G	30882769	2	3	277	1	0	0	0	0	0	0	0	1	17121	291	11	3		3	VARS2	6	30882769	Silent	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08		30882769	140232298	59	142669											
LTA	4049	broad.mit.edu	37	chr6	31541465	31541465	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttctttggagccttcgctCtgtagaacttggaaaaatcc	8	10	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:31541465C>A	uc011dnu.1	+	4	826	c.613C>A	c.(613-615)CTG>ATG	p.L205M	LTA_uc003nue.1_Missense_Mutation_p.L205M|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_3'UTR|LTA_uc010jsr.2_RNA|TNF_uc003nui.2_5'Flank|TNF_uc003nuj.2_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	lymphotoxin alpha precursor	205					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0					Etanercept(DB00005)	AGCCTTCGCTCTGTAGAACTT	0.502													A	31541465	C	A	31541465	3	1	277	1	0	0	0	0	1	0	0	0	9068	912	32	5	623	5	LTA	6	31541465	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	658696	31541465	139573602	60	142670											
CLIC5	53405	broad.mit.edu	37	chr6	45917087	45917087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagggcgggtgcgtgcCgggggctaggttgtgcaggt	22	7	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:45917087C>T	uc003oxv.3	-	3	788	c.682G>A	c.(682-684)GGC>AGC	p.G228S	CLIC5_uc003oxu.3_Missense_Mutation_p.G69S|CLIC5_uc003oxx.2_Missense_Mutation_p.G69S	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	228					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						GGGTGCGTGCCGGGGGCTAGG	0.542													T	45917087	C	T	45917087	3	4	277	1	0	0	0	0	1	0	0	0	3529	652	23	1	566	1	CLIC5	6	45917087	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	14375622	45917087	125197980	61	142671											
KLHL31	401265	broad.mit.edu	37	chr6	53516915	53516915	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcacgcggccgtcggcgacCgcgctagcgtggcagcagcg	17	15	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:53516915C>G	uc003pcb.3	-	3	1527	c.1386G>C	c.(1384-1386)GCG>GCC	p.A462A	uc003pcc.1_Missense_Mutation_p.R103G	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	462	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)					CGTCGGCGACCGCGCTAGCGT	0.692													G	53516915	C	G	53516915	2	3	277	1	0	0	0	0	0	0	0	1	8385	639	23	5		5	KLHL31	6	53516915	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	7599828	53516915	117598152	62	142672											
BAI3	577	broad.mit.edu	37	chr6	70037747	70037747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtggccacatcagtaggcTtcaccagaacaaaaggatat	9	9	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:70037747T>G	uc003pev.3	+	22	3449	c.3001T>G	c.(3001-3003)TTC>GTC	p.F1001V	BAI3_uc010kak.2_Missense_Mutation_p.F1001V|BAI3_uc011dxx.1_Missense_Mutation_p.F207V|BAI3_uc003pex.1_Missense_Mutation_p.F131V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1001	Helical; Name=4; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATCAGTAGGCTTCACCAGAAC	0.383													G	70037747	T	G	70037747	3	3	277	1	0	0	0	0	1	0	0	0	1300	1609	56	5	3079	5	BAI3	6	70037747	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	16520832	70037747	101077320	63	142673											
C6orf221	154288	broad.mit.edu	37	chr6	74073551	74073551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgacccagcggtttcgcGaggatgcccgggacccagtt	14	13	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:74073551G>A	uc003pgt.3	+	3	675	c.622G>A	c.(622-624)GAG>AAG	p.E208K		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	208										skin(2)	2						GCGGTTTCGCGAGGATGCCCG	0.617													A	74073551	G	A	74073551	3	1	277	1	0	0	0	0	1	0	0	0	2355	1059	37	1	632	1	C6orf221	6	74073551	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4035804	74073551	97041516	64	142674											
SNAP91	9892	broad.mit.edu	37	chr6	84269910	84269910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaggcatcatgggcatGcctgtcccagcaggaggctg	15	11	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:84269910G>A	uc011dze.1	-	27	2861	c.2544C>T	c.(2542-2544)GGC>GGT	p.G848G	SNAP91_uc011dzd.1_Silent_p.G346G|SNAP91_uc003pkb.2_Silent_p.G757G|SNAP91_uc003pkc.2_Silent_p.G818G|SNAP91_uc003pkd.2_Silent_p.G541G|SNAP91_uc003pka.2_Silent_p.G846G	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	848	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		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)		TCATGGGCATGCCTGTCCCAG	0.542													A	84269910	G	A	84269910	2	1	277	1	0	0	0	0	0	0	0	1	14833	1306	46	2		2	SNAP91	6	84269910	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	10196359	84269910	86845157	65	142675											
TBX18	9096	broad.mit.edu	37	chr6	85472321	85472321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagcgcttccagagctcGgctccctgcagatccacccg	10	16	0	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:85472321G>A	uc003pkl.1	-	2	438	c.438C>T	c.(436-438)GCC>GCT	p.A146A	TBX18_uc010kbq.1_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	146	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		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)		TCCAGAGCTCGGCTCCCTGCA	0.697													A	85472321	G	A	85472321	2	1	277	1	0	0	0	0	0	0	0	1	15650	1103	39	1		1	TBX18	6	85472321	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1202411	85472321	85642746	66	142676											
POU3F2	5454	broad.mit.edu	37	chr6	99283682	99283682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaccatctgcaggttTgaggccctgcagctgagctt	11	13	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:99283682T>A	uc003ppe.2	+	1	1103	c.933T>A	c.(931-933)TTT>TTA	p.F311L		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	311	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		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)		TCTGCAGGTTTGAGGCCCTGC	0.592													A	99283682	T	A	99283682	3	1	277	1	0	0	0	0	1	0	0	0	12275	1809	63	5	935	5	POU3F2	6	99283682	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	13811361	99283682	71831385	67	142677											
REV3L	5980	broad.mit.edu	37	chr6	111701366	111701366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctttccccccgatatcCatcactttccaaaccagcaa	2	16	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:111701366C>T	uc003puy.3	-	11	1596	c.1273G>A	c.(1273-1275)GGA>AGA	p.G425R	REV3L_uc003pux.3_Missense_Mutation_p.G347R|REV3L_uc003puz.3_Missense_Mutation_p.G347R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	425					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CCCCGATATCCATCACTTTCC	0.368								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					T	111701366	C	T	111701366	3	4	277	1	0	0	0	0	1	0	0	0	13240	603	21	4	8207	4	REV3L	6	111701366	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	12417684	111701366	59413701	68	142678											
HEBP2	23593	broad.mit.edu	37	chr6	138734166	138734166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaattgcttaatagaaataAtgaagtgtggttgattcaaa	8	3	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:138734166A>G	uc003qhw.1	+	4	866	c.569A>G	c.(568-570)AAT>AGT	p.N190S		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	190						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AATAGAAATAATGAAGTGTGG	0.353													G	138734166	A	G	138734166	3	3	277	1	0	0	0	0	1	0	0	0	7037	101	4	3	583	3	HEBP2	6	138734166	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	27032800	138734166	32380901	69	142679											
MLLT4	4301	broad.mit.edu	37	chr6	168265408	168265408	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcccaagtattcactctatGaagtgcatgtcagcggaggt	10	10	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr6:168265408G>C	uc003qwd.2	+	2	425	c.283G>C	c.(283-285)GAA>CAA	p.E95Q	MLLT4_uc003qwb.1_Missense_Mutation_p.E95Q|MLLT4_uc003qwc.1_Missense_Mutation_p.E95Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	95	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			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		TTCACTCTATGAAGTGCATGT	0.493			T	MLL	AL								C	168265408	G	C	168265408	3	2	277	1	0	0	0	0	1	0	0	0	9629	1291	45	5	289	5	MLLT4	6	168265408	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	29531242	168265408	2849659	70	142680											
HDAC9	9734	broad.mit.edu	37	chr7	18625092	18625092	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatagcagagtttcagaaaCagcatgagaacttgacacgg	11	7	1	5			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:18625092C>T	uc003suh.2	+	2	252	c.211C>T	c.(211-213)CAG>TAG	p.Q71*	HDAC9_uc003sue.2_Nonsense_Mutation_p.Q71*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003sui.2_Nonsense_Mutation_p.Q71*|HDAC9_uc003suj.2_Nonsense_Mutation_p.Q71*|HDAC9_uc011jya.1_Nonsense_Mutation_p.Q112*|HDAC9_uc003sua.1_Nonsense_Mutation_p.Q90*|HDAC9_uc011jyb.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003sud.1_Nonsense_Mutation_p.Q71*|HDAC9_uc011jyc.1_Nonsense_Mutation_p.Q71*|HDAC9_uc003suf.1_Nonsense_Mutation_p.Q99*|HDAC9_uc010kud.1_Nonsense_Mutation_p.Q71*|HDAC9_uc011jye.1_Nonsense_Mutation_p.Q40*|HDAC9_uc011jyf.1_Nonsense_Mutation_p.Q40*	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	71					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|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			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	GTTTCAGAAACAGCATGAGAA	0.488													T	18625092	C	T	18625092	4	4	277	1	0	0	0	0	0	1	0	0	7014	479	17	4	217	4	HDAC9	7	18625092	Nonsense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08		18625092	140513571	71	142681											
PKD1L1	168507	broad.mit.edu	37	chr7	47947797	47947797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaggcccaagctccacttCggttccatgaaactcgttat	7	12	0	1	rs141974473		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:47947797C>T	uc003tny.1	-	9	1279	c.1279G>A	c.(1279-1281)GAA>AAA	p.E427K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	427	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGCTCCACTTCGGTTCCATGA	0.423													T	47947797	C	T	47947797	3	4	277	1	0	0	0	0	1	0	0	0	11964	893	31	1	7466	1	PKD1L1	7	47947797	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	29322705	47947797	111190866	72	142682											
CLDN12	9069	broad.mit.edu	37	chr7	90042693	90042693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctctctgccattgaaAttgacattccagtagtttca	6	12	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:90042693A>G	uc003ukp.2	+	5	1339	c.703A>G	c.(703-705)ATT>GTT	p.I235V	CLDN12_uc003ukq.2_Missense_Mutation_p.I235V|CLDN12_uc010leq.2_Missense_Mutation_p.I235V|CLDN12_uc003ukr.2_Missense_Mutation_p.I235V|CLDN12_uc003uks.2_Missense_Mutation_p.I235V	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	235	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						TGCCATTGAAATTGACATTCC	0.438													G	90042693	A	G	90042693	3	3	277	1	0	0	0	0	1	0	0	0	3474	101	4	3	705	3	CLDN12	7	90042693	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	42094896	90042693	69095970	73	142683											
SLC25A13	10165	broad.mit.edu	37	chr7	95822490	95822490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgcgtgctccagttgTatttcctacaaataaagaaa	7	8	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:95822490T>C	uc003uof.3	-	6	665	c.474A>G	c.(472-474)ATA>ATG	p.I158M	SLC25A13_uc003uog.3_Missense_Mutation_p.I158M|SLC25A13_uc011kik.1_Missense_Mutation_p.I50M	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	158	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			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCTCCAGTTGTATTTCCTACA	0.393													C	95822490	T	C	95822490	3	2	277	1	0	0	0	0	1	0	0	0	14475	1628	57	3	1608	3	SLC25A13	7	95822490	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	5779797	95822490	63316173	74	142684											
SSPO	23145	broad.mit.edu	37	chr7	149493689	149493689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcctccacacagggtccCcaccggcacctctgtgccca	8	20	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr7:149493689C>T	uc010lpk.2	+	46	6685	c.6685C>T	c.(6685-6687)CCA>TCA	p.P2229S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2229					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACAGGGTCCCCACCGGCACC	0.667													T	149493689	C	T	149493689	3	4	277	1	0	0	0	0	1	0	0	0	15188	623	22	4	6859	4	SSPO	7	149493689	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	53671199	149493689	9644974	75	142685											
VPS37A	137492	broad.mit.edu	37	chr8	17137897	17137897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttagtatgaattacttaCacagatgaagtccactttcg	6	8	0	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:17137897C>A	uc003wxj.2	+	9	1267	c.914C>A	c.(913-915)ACA>AAA	p.T305K	VPS37A_uc003wxk.2_Missense_Mutation_p.T280K|VPS37A_uc003wxl.2_Intron	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	305					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GAATTACTTACACAGATGAAG	0.274													A	17137897	C	A	17137897	3	1	277	1	0	0	0	0	1	0	0	0	17202	478	17	5	948	5	VPS37A	8	17137897	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08		17137897	129226125	76	142686											
FGF17	8822	broad.mit.edu	37	chr8	21903764	21903764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtgcaggtcaccgggcGtcgcatctccgccaccgccg	13	18	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:21903764G>A	uc003xag.2	+	3	224	c.212G>A	c.(211-213)CGT>CAT	p.R71H	FGF17_uc003xah.2_Missense_Mutation_p.R60H|FGF17_uc003xai.2_Missense_Mutation_p.R94H	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	71					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				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GTCACCGGGCGTCGCATCTCC	0.662													A	21903764	G	A	21903764	3	1	277	1	0	0	0	0	1	0	0	0	5845	1145	40	1	222	1	FGF17	8	21903764	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4765867	21903764	124460258	77	142687											
MYST3	7994	broad.mit.edu	37	chr8	41790128	41790128	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggccatacagctgctgctgGtgagcagccgcagagggcag	16	12	0	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:41790128G>C	uc010lxb.2	-	18	6154	c.5610C>G	c.(5608-5610)CAC>CAG	p.H1870Q	MYST3_uc010lxc.2_Missense_Mutation_p.H1870Q|MYST3_uc003xon.3_Missense_Mutation_p.H1870Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1870					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GCTGCTGCTGGTGAGCAGCCG	0.597													C	41790128	G	C	41790128	3	2	277	1	0	0	0	0	1	0	0	0	10104	1252	44	5	408	5	MYST3	8	41790128	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	19886364	41790128	104573894	78	142688											
LYN	4067	broad.mit.edu	37	chr8	56866415	56866415	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcagatggcttgtgcagaaGattggagaaggcttgtatta	15	4	0	4			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:56866415G>A	uc003xsk.3	+	8	944	c.662G>A	c.(661-663)AGA>AAA	p.R221K	LYN_uc003xsl.3_Missense_Mutation_p.R200K	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	221	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			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTGTGCAGAAGATTGGAGAAG	0.438													A	56866415	G	A	56866415	3	1	277	1	0	0	0	0	1	0	0	0	9107	942	33	4	688	4	LYN	8	56866415	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	15076287	56866415	89497607	79	142689											
CNGB3	54714	broad.mit.edu	37	chr8	87680379	87680379	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcgctttcttttactggtgGtacagccgtgggctttgctt	11	9	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:87680379G>C	uc003ydx.2	-	5	557	c.511C>G	c.(511-513)CCA>GCA	p.P171A	CNGB3_uc010maj.2_Missense_Mutation_p.P33A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	171	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TTTACTGGTGGTACAGCCGTG	0.333													C	87680379	G	C	87680379	3	2	277	1	0	0	0	0	1	0	0	0	3601	1261	44	5	1974	5	CNGB3	8	87680379	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	30813964	87680379	58683643	80	142690											
VPS13B	157680	broad.mit.edu	37	chr8	100790949	100790949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatttgtttccgacagaaAtatgccatctgaactagaat	7	9	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:100790949A>G	uc003yiv.2	+	42	7655	c.7544A>G	c.(7543-7545)AAT>AGT	p.N2515S	VPS13B_uc003yiw.2_Missense_Mutation_p.N2490S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2515					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCGACAGAAATATGCCATCT	0.388													G	100790949	A	G	100790949	3	3	277	1	0	0	0	0	1	0	0	0	17187	101	4	3	7900	3	VPS13B	8	100790949	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	13110570	100790949	45573073	81	142691											
PKHD1L1	93035	broad.mit.edu	37	chr8	110464495	110464495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccacatcagaggtgtcGgcatggccaaactggtaata	12	9	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr8:110464495G>A	uc003yne.2	+	42	6597	c.6493G>A	c.(6493-6495)GGC>AGC	p.G2165S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2165	IPT/TIG 14.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGGTGTCGGCATGGCCAA	0.438										HNSCC(38;0.096)			A	110464495	G	A	110464495	3	1	277	1	0	0	0	0	1	0	0	0	11972	1116	39	1	6659	1	PKHD1L1	8	110464495	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	9673546	110464495	35899527	82	142692											
OR13C8	138802	broad.mit.edu	37	chr9	107331805	107331805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatcttaggcacgatggcActggaccgctatgtggccat	12	10	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr9:107331805A>G	uc011lvo.1	+	1	357	c.357A>G	c.(355-357)GCA>GCG	p.A119A		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCACGATGGCACTGGACCGCT	0.532													G	107331805	A	G	107331805	2	3	277	1	0	0	0	0	0	0	0	1	10938	146	6	3		3	OR13C8	9	107331805	Silent	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08		107331805	33881626	83	142693											
CUBN	8029	broad.mit.edu	37	chr10	17061890	17061890	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccaaccccatctgtaagGagcagcacttgaagcttgga	11	12	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:17061890G>A	uc001ioo.2	-	28	4162	c.4110C>T	c.(4108-4110)CTC>CTT	p.L1370L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1370	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATCTGTAAGGAGCAGCACTT	0.507													A	17061890	G	A	17061890	2	1	277	1	0	0	0	0	0	0	0	1	4051	1161	41	4		4	CUBN	10	17061890	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		17061890	118472857	84	142694											
MKX	283078	broad.mit.edu	37	chr10	28023604	28023604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtagtcctcactggcccGtgactctggcctcactcccg	9	18	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:28023604G>A	uc001ity.3	-	5	844	c.619C>T	c.(619-621)CGG>TGG	p.R207W	MKX_uc001itx.3_Missense_Mutation_p.R207W	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	207					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCACTGGCCCGTGACTCTGGC	0.498													A	28023604	G	A	28023604	3	1	277	1	0	0	0	0	1	0	0	0	9610	1144	40	1	451	1	MKX	10	28023604	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	10961714	28023604	107511143	85	142695											
CHAT	1103	broad.mit.edu	37	chr10	50830161	50830161	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtttgcagccagcctcatCtctggtgtactcagctacaa	9	12	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:50830161C>T	uc001jhz.2	+	5	870	c.717C>T	c.(715-717)ATC>ATT	p.I239I	CHAT_uc001jhv.1_Silent_p.I121I|CHAT_uc001jhx.1_Silent_p.I121I|CHAT_uc001jhy.1_Silent_p.I121I|CHAT_uc001jia.2_Silent_p.I121I|CHAT_uc010qgs.1_Silent_p.I121I	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	239					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGCCTCATCTCTGGTGTAC	0.483													T	50830161	C	T	50830161	2	4	277	1	0	0	0	0	0	0	0	1	3313	903	32	4		4	CHAT	10	50830161	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	22806557	50830161	84704586	86	142696											
TET1	80312	broad.mit.edu	37	chr10	70333412	70333412	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgttcctccaaatccAattgctacctttaatgctcc	3	15	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:70333412A>G	uc001jok.3	+	2	1822	c.1317A>G	c.(1315-1317)CCA>CCG	p.P439P		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	439					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						CTCCAAATCCAATTGCTACCT	0.468													G	70333412	A	G	70333412	2	3	277	1	0	0	0	0	0	0	0	1	15766	117	5	3		3	TET1	10	70333412	Silent	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	19503251	70333412	65201335	87	142697											
P4HA1	5033	broad.mit.edu	37	chr10	74804763	74804763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaattctgtaatgtaccGtctccaagtctcctgttatt	6	10	3	0	rs145054165	by1000genomes	TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:74804763G>A	uc010qka.1	-	10	1458	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	P4HA1_uc001jtg.2_Missense_Mutation_p.T375M|P4HA1_uc001jth.2_Intron|P4HA1_uc010qkb.1_Intron|P4HA1_uc001jti.2_Intron	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	375						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			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAATGTACCGTCTCCAAGTC	0.373													A	74804763	G	A	74804763	3	1	277	1	0	0	0	0	1	0	0	0	11356	1145	40	1	583	1	P4HA1	10	74804763	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4471351	74804763	60729984	88	142698											
NRG3	10718	broad.mit.edu	37	chr10	84744956	84744956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagcttggagcaaaaggaCctggtgggctattcatccac	11	9	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:84744956C>T	uc001kco.2	+	9	1713	c.1686C>T	c.(1684-1686)GAC>GAT	p.D562D	NRG3_uc010qlz.1_Silent_p.D561D|NRG3_uc001kcp.2_Silent_p.D365D|NRG3_uc001kcq.2_Silent_p.D212D|NRG3_uc001kcr.2_Silent_p.D236D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	586	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCAAAAGGACCTGGTGGGCT	0.443													T	84744956	C	T	84744956	2	4	277	1	0	0	0	0	0	0	0	1	10649	506	18	4		4	NRG3	10	84744956	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	9940193	84744956	50789791	89	142699											
LRIT2	340745	broad.mit.edu	37	chr10	85982145	85982145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgatgcaatgtagaggGtgaaccactcctccttagag	10	11	0	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:85982145G>A	uc001kcy.2	-	3	1192	c.1184C>T	c.(1183-1185)ACC>ATC	p.T395I	LRIT2_uc010qmc.1_Missense_Mutation_p.T405I	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	395	Fibronectin type-III.					integral to membrane				ovary(2)	2						AATGTAGAGGGTGAACCACTC	0.522													A	85982145	G	A	85982145	3	1	277	1	0	0	0	0	1	0	0	0	8948	1261	44	4	472	4	LRIT2	10	85982145	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1237189	85982145	49552602	90	142700											
GRID1	2894	broad.mit.edu	37	chr10	87615903	87615903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcttcctgtgaaaggcGttggccagcatcagaacact	10	12	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:87615903G>A	uc001kdl.1	-	7	1097	c.996C>T	c.(994-996)AAC>AAT	p.N332N	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	332	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TGTGAAAGGCGTTGGCCAGCA	0.517										Multiple Myeloma(13;0.14)			A	87615903	G	A	87615903	2	1	277	1	0	0	0	0	0	0	0	1	6771	1136	40	1		1	GRID1	10	87615903	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1633758	87615903	47918844	91	142701											
HPSE2	60495	broad.mit.edu	37	chr10	100503772	100503772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaatatcaggtggagtcCagagcaatcagcaaagttat	10	7	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:100503772C>T	uc001kpn.1	-	4	712	c.652G>A	c.(652-654)GGA>AGA	p.G218R	HPSE2_uc009xwc.1_Missense_Mutation_p.G208R|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	218					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AGGTGGAGTCCAGAGCAATCA	0.433													T	100503772	C	T	100503772	3	4	277	1	0	0	0	0	1	0	0	0	7345	603	21	4	1200	4	HPSE2	10	100503772	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	12887869	100503772	35030975	92	142702											
SEMA4G	57715	broad.mit.edu	37	chr10	102740027	102740027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcaagcgcaacatacGctacacacaccttacaggga	8	14	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:102740027G>A	uc010qpt.1	+	11	1720	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.R426H|SEMA4G_uc001krx.2_Missense_Mutation_p.R426H|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	426	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCAACATACGCTACACACAC	0.582													A	102740027	G	A	102740027	3	1	277	1	0	0	0	0	1	0	0	0	14036	1087	38	1	1315	1	SEMA4G	10	102740027	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	2236255	102740027	32794720	93	142703											
PSD	5662	broad.mit.edu	37	chr10	104176654	104176654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggacctgccactcgccGtagcaaggagcctgtgctgc	12	15	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr10:104176654G>A	uc001kvg.1	-	2	669	c.142C>T	c.(142-144)CGG>TGG	p.R48W	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R48W|PSD_uc001kvi.1_Missense_Mutation_p.R48W|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	48	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCACTCGCCGTAGCAAGGAG	0.692													A	104176654	G	A	104176654	3	1	277	1	0	0	0	0	1	0	0	0	12646	1144	40	1	2996	1	PSD	10	104176654	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1436627	104176654	31358093	94	142704											
SCUBE2	57758	broad.mit.edu	37	chr11	9047254	9047254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgtgcttaccatcaTatgtcacgtatgggacctgg	12	10	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:9047254T>C	uc001mhh.1	-	20	2842	c.2762A>G	c.(2761-2763)TAT>TGT	p.Y921C	SCUBE2_uc001mhi.1_Missense_Mutation_p.Y893C|SCUBE2_uc001mhj.1_Missense_Mutation_p.Y729C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	921	CUB.					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTTACCATCATATGTCACGTA	0.532													C	9047254	T	C	9047254	3	2	277	1	0	0	0	0	1	0	0	0	13945	1406	49	3	249	3	SCUBE2	11	9047254	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08		9047254	125959262	95	142705											
KCNA4	3739	broad.mit.edu	37	chr11	30033593	30033593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgcgcaaagggtcaaaGtactgagtcctcttttcagg	10	9	4	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:30033593G>A	uc001msk.2	-	2	1785	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	211						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AAGGGTCAAAGTACTGAGTCC	0.473													A	30033593	G	A	30033593	2	1	277	1	0	0	0	0	0	0	0	1	8005	1024	36	4		4	KCNA4	11	30033593	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	20986339	30033593	104972923	96	142706											
MYBPC3	4607	broad.mit.edu	37	chr11	47361309	47361309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatggtgtctggtatgcGgcctgggcagtccaggtgga	16	9	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:47361309G>A	uc001nfa.3	-	20	2015	c.1960C>T	c.(1960-1962)CGC>TGC	p.R654C	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	653	Ig-like C2-type 5.				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			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		TCTGGTATGCGGCCTGGGCAG	0.567													A	47361309	G	A	47361309	3	1	277	1	0	0	0	0	1	0	0	0	10013	1116	39	1	1920	1	MYBPC3	11	47361309	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	17327716	47361309	87645207	97	142707											
OR4C46	119749	broad.mit.edu	37	chr11	51515980	51515980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcttggaggcaaggcacaaAgccctctccacctgtgtctc	10	14	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:51515980A>T	uc010ric.1	+	1	699	c.699A>T	c.(697-699)AAA>AAT	p.K233N		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAAGGCACAAAGCCCTCTCCA	0.473													T	51515980	A	T	51515980	3	4	277	1	0	0	0	0	1	0	0	0	11051	69	3	5	701	5	OR4C46	11	51515980	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	4154671	51515980	83490536	98	142708											
OR5W2	390148	broad.mit.edu	37	chr11	55681708	55681708	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtaccgatcaaaggccatCactgacagcagtagacactc	8	12	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:55681708C>T	uc010rir.1	-	1	351	c.351G>A	c.(349-351)GTG>GTA	p.V117V		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CAAAGGCCATCACTGACAGCA	0.458													T	55681708	C	T	55681708	2	4	277	1	0	0	0	0	0	0	0	1	11185	813	29	4		4	OR5W2	11	55681708	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	4165728	55681708	79324808	99	142709											
OR5M1	390168	broad.mit.edu	37	chr11	56380614	56380614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcaaatggctacatagCgatccaatgccattgaagca	10	10	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:56380614C>T	uc001nja.1	-	1	365	c.365G>A	c.(364-366)CGC>CAC	p.R122H		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						GGCTACATAGCGATCCAATGC	0.463													T	56380614	C	T	56380614	3	4	277	1	0	0	0	0	1	0	0	0	11172	768	27	1	586	1	OR5M1	11	56380614	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	698906	56380614	78625902	100	142710											
TMEM132A	54972	broad.mit.edu	37	chr11	60702763	60702763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccatcctgggggagcagGcgctggctgtgacggacgac	16	12	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:60702763G>A	uc001nqj.2	+	10	2069	c.1876G>A	c.(1876-1878)GCG>ACG	p.A626T	TMEM132A_uc001nqi.2_Missense_Mutation_p.A627T|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	626	Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGGGGAGCAGGCGCTGGCTGT	0.662													A	60702763	G	A	60702763	3	1	277	1	0	0	0	0	1	0	0	0	16042	1203	42	2	1917	2	TMEM132A	11	60702763	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4322149	60702763	74303753	101	142711											
AHNAK	79026	broad.mit.edu	37	chr11	62293791	62293791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggctttgatattcaTctctggcatcttgaacttag	10	8	3	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:62293791T>C	uc001ntl.2	-	5	8398	c.8098A>G	c.(8098-8100)ATG>GTG	p.M2700V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2700					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTGATATTCATCTCTGGCATC	0.453													C	62293791	T	C	62293791	3	2	277	1	0	0	0	0	1	0	0	0	414	1435	50	3	9694	3	AHNAK	11	62293791	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	1591028	62293791	72712725	102	142712											
AHNAK	79026	broad.mit.edu	37	chr11	62297323	62297323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggccctctcctttaaaGccaggcatgctgaacttggg	11	12	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:62297323G>A	uc001ntl.2	-	5	4866	c.4566C>T	c.(4564-4566)GGC>GGT	p.G1522G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1522					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTCCTTTAAAGCCAGGCATGC	0.507													A	62297323	G	A	62297323	2	1	277	1	0	0	0	0	0	0	0	1	414	958	34	2		2	AHNAK	11	62297323	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	3532	62297323	72709193	103	142713											
GPR152	390212	broad.mit.edu	37	chr11	67219257	67219257	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcgcagagagctgccgcGaaggacgagagcacggagcg	16	12	0	2	rs144851549		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:67219257G>A	uc001olm.2	-	1	944	c.939C>T	c.(937-939)TTC>TTT	p.F313F	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	313	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGCTGCCGCGAAGGACGAGA	0.652													A	67219257	G	A	67219257	2	1	277	1	0	0	0	0	0	0	0	1	6658	1049	37	1		1	GPR152	11	67219257	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4921934	67219257	67787259	104	142714											
CLNS1A	1207	broad.mit.edu	37	chr11	77340917	77340917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattccagtgagaatcctaaTccagagccatctaaccaaga	6	11	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:77340917T>C	uc001oyk.2	-	2	245	c.153A>G	c.(151-153)GGA>GGG	p.G51G	CLNS1A_uc001oyl.2_Silent_p.G51G	NM_001293	NP_001284	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	51					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			ovary(1)	1	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			AGAATCCTAATCCAGAGCCAT	0.383													C	77340917	T	C	77340917	2	2	277	1	0	0	0	0	0	0	0	1	3548	1422	50	3		3	CLNS1A	11	77340917	Silent	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	10121660	77340917	57665599	105	142715											
TRPC6	7225	broad.mit.edu	37	chr11	101454132	101454132	+	Frame_Shift_Del	DEL	C	C	-													gtcttctcccagctccgagtCcatgagcagatagtcctggc							TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:101454132delC	uc001pgk.3	-	1	528	c.103delG	c.(103-105)GACfs	p.D35fs	TRPC6_uc009ywy.2_Frame_Shift_Del_p.D35fs|TRPC6_uc009ywz.1_Frame_Shift_Del_p.D35fs	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	35	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGCTCCGAGTCCATGAGCAGA	0.726													-	101454132	C	-	101454132	7	5	277	1	0	1	0	1	0	0	0	0	16580	855	30	0	2744	0	TRPC6	11	101454132	Frame_Shift_Del	DEL	C	TCGA-HU-A4H0-01A-11D-A25D-08	24113215	101454132	33552384	106	142716											
POU2F3	25833	broad.mit.edu	37	chr11	120168972	120168972	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttgcttccacttgcAgattaaaaccgaagatctca	5	13	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:120168972A>G	uc001pxc.2	+	4	235	c.133_splice	c.e4-2	p.I45_splice	POU2F3_uc010rzk.1_Splice_Site|POU2F3_uc010rzl.1_Splice_Site	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		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)		TTCCACTTGCAGATTAAAACC	0.547													G	120168972	A	G	120168972	5	3	277	1	0	0	0	0	0	0	1	0	12273	202	7	3	145	3	POU2F3	11	120168972	Splice_Site	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	18714840	120168972	14837544	107	142717											
PANX3	116337	broad.mit.edu	37	chr11	124481615	124481615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtccctggcattcGcccaggagttctcctctggt	11	13	2	1	rs142639637	byFrequency	TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr11:124481615G>A	uc001qah.2	+	1	163	c.163G>A	c.(163-165)GCC>ACC	p.A55T		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	55	Helical; (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	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;0.0219)		CCTGGCATTCGCCCAGGAGTT	0.587													A	124481615	G	A	124481615	3	1	277	1	0	0	0	0	1	0	0	0	11422	1087	38	1	165	1	PANX3	11	124481615	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4312643	124481615	10524901	108	142718											
CLEC4E	26253	broad.mit.edu	37	chr12	8689759	8689759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgagcccccatggctgaGcagttctttaaacttaacgc	10	11	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:8689759G>A	uc001quo.1	-	4	489	c.324C>T	c.(322-324)TGC>TGT	p.C108C		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	108	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					CCATGGCTGAGCAGTTCTTTA	0.478													A	8689759	G	A	8689759	2	1	277	1	0	0	0	0	0	0	0	1	3515	963	34	2		2	CLEC4E	12	8689759	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		8689759	125162136	109	142719											
RECQL	5965	broad.mit.edu	37	chr12	21644547	21644547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttattttctttgtcaggacTttttttttctgaataagctc	5	6	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:21644547T>C	uc001rex.2	-	4	468	c.120A>G	c.(118-120)AAA>AAG	p.K40K	RECQL_uc001rey.2_Silent_p.K40K	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	40					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						TTGTCAGGACTTTTTTTTTCT	0.383								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					C	21644547	T	C	21644547	2	2	277	1	0	0	0	0	0	0	0	1	13201	1606	56	3		3	RECQL	12	21644547	Silent	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	12954788	21644547	112207348	110	142720											
CCNT1	904	broad.mit.edu	37	chr12	49087819	49087819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttctgcatgcttcgcgCggtattctttcagtgacact	8	11	4	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:49087819C>T	uc001rse.1	-	9	1501	c.1178G>A	c.(1177-1179)CGC>CAC	p.R393H	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.R108H	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	393	Potential.				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			ovary(3)|lung(1)|breast(1)|skin(1)	6						ATGCTTCGCGCGGTATTCTTT	0.448													T	49087819	C	T	49087819	3	4	277	1	0	0	0	0	1	0	0	0	2934	768	27	1	1006	1	CCNT1	12	49087819	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	27443272	49087819	84764076	111	142721											
SDR9C7	121214	broad.mit.edu	37	chr12	57317711	57317711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggatgtagaggagtttgGcatccaggccagggttgtag	18	5	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:57317711G>T	uc010sqw.1	-	4	848	c.848C>A	c.(847-849)GCC>GAC	p.A283D		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	283						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						GAGGAGTTTGGCATCCAGGCC	0.557													T	57317711	G	T	57317711	3	4	277	1	0	0	0	0	1	0	0	0	13974	1203	42	5	97	5	SDR9C7	12	57317711	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	8229892	57317711	76534184	112	142722											
GRIP1	23426	broad.mit.edu	37	chr12	66765682	66765682	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcatgattcaaactcAtcgtgctccccgacatgatt	7	13	3	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:66765682A>T	uc001stk.2	-	22	2889	c.2648T>A	c.(2647-2649)ATG>AAG	p.M883K	GRIP1_uc010sta.1_Missense_Mutation_p.M827K|GRIP1_uc001stj.2_Missense_Mutation_p.M650K|GRIP1_uc001stl.1_Missense_Mutation_p.M760K|GRIP1_uc001stm.2_Missense_Mutation_p.M868K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	935					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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTCAAACTCATCGTGCTCCC	0.517													T	66765682	A	T	66765682	3	4	277	1	0	0	0	0	1	0	0	0	6787	217	8	5	594	5	GRIP1	12	66765682	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	9447971	66765682	67086213	113	142723											
CAND1	55832	broad.mit.edu	37	chr12	67696319	67696319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttttgaagcaaactcGtcctgtacaaagttggctat	7	9	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:67696319G>A	uc001stn.2	+	8	1654	c.1217G>A	c.(1216-1218)CGT>CAT	p.R406H	CAND1_uc001sto.2_Missense_Mutation_p.R84H	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	406	HEAT 9.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			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)		AAGCAAACTCGTCCTGTACAA	0.413													A	67696319	G	A	67696319	3	1	277	1	0	0	0	0	1	0	0	0	2615	1145	40	1	1247	1	CAND1	12	67696319	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	930637	67696319	66155576	114	142724											
GALNT4	8693	broad.mit.edu	37	chr12	89917407	89917407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagtcctccagccatggtaGgtgatctgatggggtcaatt	12	9	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:89917407G>C	uc001tbd.2	-	1	1129	c.920C>G	c.(919-921)CCT>CGT	p.P307R	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.P304R|GALNT4_uc010suo.1_5'UTR	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	307	Catalytic subdomain B.|Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0						AGCCATGGTAGGTGATCTGAT	0.468													C	89917407	G	C	89917407	3	2	277	1	0	0	0	0	1	0	0	0	6215	1000	35	5	820	5	GALNT4	12	89917407	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	22221088	89917407	43934488	115	142725											
NUAK1	9891	broad.mit.edu	37	chr12	106461416	106461416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgggctttcaggcactgCatcctgaccagactgagcaa	12	11	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:106461416C>A	uc001tlj.1	-	7	2530	c.1150G>T	c.(1150-1152)GCA>TCA	p.A384S		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	384							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						TCAGGCACTGCATCCTGACCA	0.547													A	106461416	C	A	106461416	3	1	277	1	0	0	0	0	1	0	0	0	10712	710	25	5	839	5	NUAK1	12	106461416	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	16544009	106461416	27390479	116	142726											
WSCD2	9671	broad.mit.edu	37	chr12	108634186	108634186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaagacgcacgaaagcGgccagaaagagatcgaggcc	13	11	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:108634186G>A	uc001tms.2	+	8	1954	c.1210G>A	c.(1210-1212)GGC>AGC	p.G404S	WSCD2_uc001tmt.2_Missense_Mutation_p.G404S|WSCD2_uc001tmu.2_Missense_Mutation_p.G152S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	404						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GCACGAAAGCGGCCAGAAAGA	0.607													A	108634186	G	A	108634186	3	1	277	1	0	0	0	0	1	0	0	0	17404	1116	39	1	1236	1	WSCD2	12	108634186	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	2172770	108634186	25217709	117	142727											
UBE3B	89910	broad.mit.edu	37	chr12	109945375	109945375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttttttccaggtctcaCttaccttgatgacctgcttc	7	11	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:109945375C>T	uc001top.2	+	15	2060	c.1457C>T	c.(1456-1458)ACT>ATT	p.T486I	UBE3B_uc001toq.2_Missense_Mutation_p.T486I|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.T486I	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	486					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CCAGGTCTCACTTACCTTGAT	0.478													T	109945375	C	T	109945375	3	4	277	1	0	0	0	0	1	0	0	0	16877	565	20	4	1507	4	UBE3B	12	109945375	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	1311189	109945375	23906520	118	142728											
ATXN2	6311	broad.mit.edu	37	chr12	111908438	111908438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtaggcaacatattgcGtggagtaagctggtggggtg	17	5	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:111908438G>A	uc001tsj.2	-	19	3269	c.3107C>T	c.(3106-3108)ACG>ATG	p.T1036M	ATXN2_uc001tsh.2_Missense_Mutation_p.T771M|ATXN2_uc001tsi.2_Missense_Mutation_p.T747M|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.T224M|ATXN2_uc001tsl.1_Missense_Mutation_p.T55M	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1036	Pro-rich.				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			ovary(1)|breast(1)	2						AACATATTGCGTGGAGTAAGC	0.557													A	111908438	G	A	111908438	3	1	277	1	0	0	0	0	1	0	0	0	1211	1145	40	1	862	1	ATXN2	12	111908438	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1963063	111908438	21943457	119	142729											
SDSL	113675	broad.mit.edu	37	chr12	113866986	113866986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtaatgcgggcatcgctgCtgcctatgctgctaggaagc	15	10	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:113866986C>A	uc001tvi.2	+	5	446	c.236C>A	c.(235-237)GCT>GAT	p.A79D	SDSL_uc009zwh.2_Missense_Mutation_p.A79D	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	serine dehydratase-like	79					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	GGCATCGCTGCTGCCTATGCT	0.632													A	113866986	C	A	113866986	3	1	277	1	0	0	0	0	1	0	0	0	13976	797	28	5	246	5	SDSL	12	113866986	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	1958548	113866986	19984909	120	142730											
GCN1L1	10985	broad.mit.edu	37	chr12	120621399	120621399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagatgtctccttgtcgCttggctctcgatggaaagac	10	11	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:120621399C>T	uc001txo.2	-	5	412	c.399G>A	c.(397-399)AAG>AAA	p.K133K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	133					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCTTGTCGCTTGGCTCTCG	0.552													T	120621399	C	T	120621399	2	4	277	1	0	0	0	0	0	0	0	1	6299	796	28	2		2	GCN1L1	12	120621399	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	6754413	120621399	13230496	121	142731											
ULK1	8408	broad.mit.edu	37	chr12	132396496	132396496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgactctcagtccctgggcGagatgcagcagctgcagaag	13	11	1	3	rs138390533		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr12:132396496G>A	uc001uje.2	+	13	1226	c.958G>A	c.(958-960)GAG>AAG	p.E320K		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	320	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	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)		GTCCCTGGGCGAGATGCAGCA	0.647													A	132396496	G	A	132396496	3	1	277	1	0	0	0	0	1	0	0	0	16972	1059	37	1	1008	1	ULK1	12	132396496	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	11775097	132396496	1455399	122	142732											
WASF3	10810	broad.mit.edu	37	chr13	27255334	27255334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcggagcatgagtaccGgcccccatctgcctcggcga	14	15	1	1	rs146594472		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:27255334G>T	uc001uqv.2	+	8	1085	c.860G>T	c.(859-861)CGG>CTG	p.R287L	WASF3_uc001uqw.2_Missense_Mutation_p.R284L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	287					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	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)		CATGAGTACCGGCCCCCATCT	0.692													T	27255334	G	T	27255334	3	4	277	1	0	0	0	0	1	0	0	0	17251	1116	39	5	882	5	WASF3	13	27255334	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		27255334	87914544	123	142733											
WASF3	10810	broad.mit.edu	37	chr13	27256945	27256945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcctggtcacagccccGccacccccgggcccaccacc	10	23	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:27256945G>A	uc001uqv.2	+	9	1410	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	WASF3_uc001uqw.2_Silent_p.P392P	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	395	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	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)		TCACAGCCCCGCCACCCCCGG	0.701													A	27256945	G	A	27256945	2	1	277	1	0	0	0	0	0	0	0	1	17251	1074	38	1		1	WASF3	13	27256945	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1611	27256945	87912933	124	142734											
PCDH9	5101	broad.mit.edu	37	chr13	67799994	67799994	+	Frame_Shift_Del	DEL	T	T	-													tgttttgcttgttctcctggTttggggacatccattcggca							TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:67799993_67799993GT>G	uc001vik.3	-	1	3272	c.2580_2580AC>C	c.(2578-2580)aacfs	p.N860fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.N860fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.N860fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.N860fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	860					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)		TGTTCTCCTGGTTTGGGGACA	0.458													-	67799994	T	-	67799994	7	5	277	1	0	1	0	1	0	0	0	0	11518	1725	60	0	1150	0	PCDH9	13	67799994	Frame_Shift_Del	DEL	T	TCGA-HU-A4H0-01A-11D-A25D-08	40543049	67799994	47369884	125	142735											
SLITRK6	84189	broad.mit.edu	37	chr13	86368839	86368839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacagtggcacagcgtccGtaagagatcgtaaaatagta	11	8	0	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr13:86368839G>A	uc001vll.1	-	2	2264	c.1805C>T	c.(1804-1806)ACG>ATG	p.T602M	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	602	Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CACAGCGTCCGTAAGAGATCG	0.423													A	86368839	G	A	86368839	3	1	277	1	0	0	0	0	1	0	0	0	14747	1145	40	1	724	1	SLITRK6	13	86368839	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	18568845	86368839	28801039	126	142736											
MYH7	4625	broad.mit.edu	37	chr14	23887536	23887536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctcggccttggcctccGtctcctcctcgtactgctcc	9	19	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:23887536G>A	uc001wjx.2	-	30	4158	c.4052C>T	c.(4051-4053)ACG>ATG	p.T1351M	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1351	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTGGCCTCCGTCTCCTCCTC	0.672													A	23887536	G	A	23887536	3	1	277	1	0	0	0	0	1	0	0	0	10039	1145	40	1	1799	1	MYH7	14	23887536	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		23887536	83462004	127	142737											
RDH12	145226	broad.mit.edu	37	chr14	68191269	68191269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcactggcgccaacacgGgcattggcaaggagacggcc	14	12	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:68191269G>A	uc001xjz.3	+	4	472	c.148G>A	c.(148-150)GGC>AGC	p.G50S		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	50	NADP (By similarity).				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CGCCAACACGGGCATTGGCAA	0.557													A	68191269	G	A	68191269	3	1	277	1	0	0	0	0	1	0	0	0	13191	1232	43	4	154	4	RDH12	14	68191269	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	44303733	68191269	39158271	128	142738											
KIAA0317	9870	broad.mit.edu	37	chr14	75140795	75140795	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgatcttcaggtagAactccttcactgagaattgc	11	8	3	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:75140795A>C	uc001xqb.2	-	9	1605	c.1100T>G	c.(1099-1101)TTC>TGC	p.F367C	KIAA0317_uc010tut.1_Missense_Mutation_p.F206C|KIAA0317_uc001xqc.2_Missense_Mutation_p.F367C	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	367					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CTTCAGGTAGAACTCCTTCAC	0.413													C	75140795	A	C	75140795	3	2	277	1	0	0	0	0	1	0	0	0	8167	246	9	5	1419	5	KIAA0317	14	75140795	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	6949526	75140795	32208745	129	142739											
TMEM63C	57156	broad.mit.edu	37	chr14	77710781	77710781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctacttctccgccttcctCgaggcccactggaccaggtg	10	16	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:77710781C>T	uc001xtf.2	+	16	1643	c.1431C>T	c.(1429-1431)CTC>CTT	p.L477L	TMEM63C_uc010asq.1_Silent_p.L477L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	477	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCGCCTTCCTCGAGGCCCACT	0.612													T	77710781	C	T	77710781	2	4	277	1	0	0	0	0	0	0	0	1	16189	871	31	1		1	TMEM63C	14	77710781	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	2569986	77710781	29638759	130	142740											
NRXN3	9369	broad.mit.edu	37	chr14	79175849	79175849	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcggagccagaagaatacaaAagtagacttctttgccgtgg	11	8	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr14:79175849A>T	uc001xun.2	+	4	883	c.392A>T	c.(391-393)AAA>ATA	p.K131I	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K265I	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	504	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGAATACAAAAGTAGACTTC	0.512													T	79175849	A	T	79175849	3	4	277	1	0	0	0	0	1	0	0	0	10667	14	1	5	398	5	NRXN3	14	79175849	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	1465068	79175849	28173691	131	142741											
MKRN3	7681	broad.mit.edu	37	chr15	23812235	23812235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctcctgggccaggtggtGggtcattcagcgcatactgg	15	11	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:23812235G>T	uc001ywh.3	+	1	1782	c.1306G>T	c.(1306-1308)GGG>TGG	p.G436W	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	436						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		GCCAGGTGGTGGGTCATTCAG	0.527													T	23812235	G	T	23812235	3	4	277	1	0	0	0	0	1	0	0	0	9608	1348	47	5	1308	5	MKRN3	15	23812235	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		23812235	78719157	132	142742											
CASC5	57082	broad.mit.edu	37	chr15	40914746	40914746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcagaggaagagcaaaatAtggatctaacaaagagccac	10	7	2	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:40914746A>G	uc010bbs.1	+	11	2523	c.2362A>G	c.(2362-2364)ATG>GTG	p.M788V	CASC5_uc010ucq.1_Missense_Mutation_p.M612V|CASC5_uc001zme.2_Missense_Mutation_p.M762V|CASC5_uc010bbt.1_Missense_Mutation_p.M762V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	788					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			breast(3)|central_nervous_system(1)|skin(1)	5		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)		AGAGCAAAATATGGATCTAAC	0.403													G	40914746	A	G	40914746	3	3	277	1	0	0	0	0	1	0	0	0	2663	449	16	3	2400	3	CASC5	15	40914746	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	17102511	40914746	61616646	133	142743											
SPATA5L1	79029	broad.mit.edu	37	chr15	45697549	45697549	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gactcccacacttaaacaaaGaaaggaaattctgcaagtga	7	9	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:45697549G>A	uc001zve.2	+	2	1230	c.1121G>A	c.(1120-1122)AGA>AAA	p.R374K	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	374						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		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)		CTTAAACAAAGAAAGGAAATT	0.358													A	45697549	G	A	45697549	3	1	277	1	0	0	0	0	1	0	0	0	15011	942	33	4	1127	4	SPATA5L1	15	45697549	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4782803	45697549	56833843	134	142744											
AP4E1	23431	broad.mit.edu	37	chr15	51250863	51250863	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaatacagttgagagattaAtccatgaatttaccatatct	5	7	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:51250863A>T	uc001zyx.1	+	14	1753	c.1723A>T	c.(1723-1725)ATC>TTC	p.I575F		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	575					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGAGAGATTAATCCATGAATT	0.368													T	51250863	A	T	51250863	3	4	277	1	0	0	0	0	1	0	0	0	752	101	4	5	1777	5	AP4E1	15	51250863	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	5553314	51250863	51280529	135	142745											
ZNF609	23060	broad.mit.edu	37	chr15	64968058	64968058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcactaacacggcttaccGgcagcagtacgaagaacagc	11	12	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:64968058G>A	uc002ann.2	+	4	3005	c.3005G>A	c.(3004-3006)CGG>CAG	p.R1002Q		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1002						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACGGCTTACCGGCAGCAGTAC	0.567													A	64968058	G	A	64968058	3	1	277	1	0	0	0	0	1	0	0	0	18032	1116	39	1	3019	1	ZNF609	15	64968058	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	13717195	64968058	37563334	136	142746											
PML	5371	broad.mit.edu	37	chr15	74290464	74290464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaggatgcctggaggcGtcgggcatgcagtgccccat	15	12	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:74290464G>A	uc002awv.2	+	2	389	c.249G>A	c.(247-249)GCG>GCA	p.A83A	PML_uc002awm.2_Silent_p.A83A|PML_uc002awl.2_Silent_p.A83A|PML_uc002awj.1_Silent_p.A83A|PML_uc002awk.2_Silent_p.A83A|PML_uc002awn.2_Silent_p.A83A|PML_uc002awo.2_Silent_p.A83A|PML_uc002awp.2_Silent_p.A83A|PML_uc002awq.2_Silent_p.A83A|PML_uc002awr.2_Silent_p.A83A|PML_uc002aws.2_Silent_p.A83A|PML_uc002awt.2_Silent_p.A83A|PML_uc002awu.2_Silent_p.A83A|PML_uc010ule.1_Intron|PML_uc002aww.1_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	83	RING-type.				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|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 binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCCTGGAGGCGTCGGGCATGC	0.637			T	RARA|PAX5	APL|ALL								A	74290464	G	A	74290464	2	1	277	1	0	0	0	0	0	0	0	1	12135	1132	40	1		1	PML	15	74290464	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	9322406	74290464	28240928	137	142747											
CPEB1	64506	broad.mit.edu	37	chr15	83218340	83218340	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgacaaacaccgtcctgctGgggtcaagcctctgagatgg	12	13	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr15:83218340G>T	uc002bit.2	-	9	1601	c.1464C>A	c.(1462-1464)CCC>CCA	p.P488P	CPEB1_uc002biq.2_Silent_p.P348P|CPEB1_uc002bir.2_Silent_p.P353P|CPEB1_uc002bis.2_Silent_p.P348P|CPEB1_uc010uod.1_Silent_p.P197P|CPEB1_uc010uoe.1_Silent_p.P426P|CPEB1_uc002biu.2_Silent_p.P450P|CPEB1_uc010uof.1_Silent_p.P348P|CPEB1_uc002biv.2_Silent_p.P423P|CPEB1_uc002bip.2_Silent_p.P197P	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	428	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGTCCTGCTGGGGTCAAGCC	0.557													T	83218340	G	T	83218340	2	4	277	1	0	0	0	0	0	0	0	1	3800	1335	47	5		5	CPEB1	15	83218340	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	8927876	83218340	19313052	138	142748											
CACNA1H	8912	broad.mit.edu	37	chr16	1245065	1245065	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgttgagtgcggctccgaGcgctgcaacatcctggaggt	15	11	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:1245065G>C	uc002cks.2	+	3	641	c.393G>C	c.(391-393)GAG>GAC	p.E131D	CACNA1H_uc002ckt.2_Missense_Mutation_p.E131D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	131	Extracellular (Potential).|I.				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCTCCGAGCGCTGCAACA	0.343											OREG0023543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	1245065	G	C	1245065	3	2	277	1	0	0	0	0	1	0	0	0	2545	962	34	5	399	5	CACNA1H	16	1245065	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		1245065	89109688	139	142749											
CREBBP	1387	broad.mit.edu	37	chr16	3786141	3786141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattgggccagaaatcacCttcaaaatagggcagttcct	8	11	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:3786141C>T	uc002cvv.2	-	28	4828	c.4624G>A	c.(4624-4626)GGT>AGT	p.G1542S	CREBBP_uc002cvw.2_Missense_Mutation_p.G1504S	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1542	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			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGAAATCACCTTCAAAATAG	0.463			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				T	3786141	C	T	3786141	3	4	277	1	0	0	0	0	1	0	0	0	3861	681	24	4	2720	4	CREBBP	16	3786141	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	2541076	3786141	86568612	140	142750											
GLIS2	84662	broad.mit.edu	37	chr16	4384894	4384894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccctgcacctgcctgcCtcctccttccttacccctcc	7	22	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:4384894C>T	uc002cwc.1	+	3	495	c.438C>T	c.(436-438)GCC>GCT	p.A146A		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	146	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						ACCTGCCTGCCTCCTCCTTCC	0.667													T	4384894	C	T	4384894	2	4	277	1	0	0	0	0	0	0	0	1	6446	668	24	4		4	GLIS2	16	4384894	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	598753	4384894	85969859	141	142751											
LONP2	83752	broad.mit.edu	37	chr16	48385682	48385682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggctttactgtcaagaCcagacctggtctgttaaata	10	8	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:48385682C>T	uc002efi.1	+	15	2617	c.2528C>T	c.(2527-2529)ACC>ATC	p.T843I	LONP2_uc002efj.1_Missense_Mutation_p.T799I	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	843					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				0						ACTGTCAAGACCAGACCTGGT	0.398													T	48385682	C	T	48385682	3	4	277	1	0	0	0	0	1	0	0	0	8893	507	18	4	2586	4	LONP2	16	48385682	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	44000788	48385682	41969071	142	142752											
ZNF423	23090	broad.mit.edu	37	chr16	49670153	49670153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcggtgagcgtcagcagCgaagggaagcgctcaccaca	14	11	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:49670153C>T	uc002efs.2	-	5	3208	c.2910G>A	c.(2908-2910)TCG>TCA	p.S970S	ZNF423_uc010vgn.1_Silent_p.S853S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	970	C2H2-type 23.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCGTCAGCAGCGAAGGGAAGC	0.612													T	49670153	C	T	49670153	2	4	277	1	0	0	0	0	0	0	0	1	17895	755	27	1		1	ZNF423	16	49670153	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	1284471	49670153	40684600	143	142753											
TOX3	27324	broad.mit.edu	37	chr16	52473731	52473731	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggagcgattgacctaggGagggattgctggagagtctg	18	5	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:52473731G>A	uc002egw.2	-	7	1308	c.1137C>T	c.(1135-1137)CTC>CTT	p.L379L	TOX3_uc010vgt.1_Silent_p.L374L|TOX3_uc010vgu.1_Silent_p.L379L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	379					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				0						TTGACCTAGGGAGGGATTGCT	0.522													A	52473731	G	A	52473731	2	1	277	1	0	0	0	0	0	0	0	1	16376	1161	41	4		4	TOX3	16	52473731	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	2803578	52473731	37881022	144	142754											
IRX5	10265	broad.mit.edu	37	chr16	54966510	54966510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacggggacccagcgtaccGgaagaacgccacaagggacg	14	12	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:54966510G>A	uc002ehv.2	+	2	350	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	IRX5_uc010cca.1_Missense_Mutation_p.R169Q|IRX5_uc002ehw.2_Missense_Mutation_p.R51Q	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	117	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CCAGCGTACCGGAAGAACGCC	0.657													A	54966510	G	A	54966510	3	1	277	1	0	0	0	0	1	0	0	0	7847	1116	39	1	356	1	IRX5	16	54966510	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	2492779	54966510	35388243	145	142755											
RSPRY1	89970	broad.mit.edu	37	chr16	57243062	57243063	+	Frame_Shift_Ins	INS	-	-	T													ccactgggaccagctgttatINSaacattgttactagatgaat							TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr16:57243061_57243062A>AT	uc002elb.3	+	3	756_757	c.478_479A>AT	c.(478-480)atafs	p.I160fs	RSPRY1_uc002elc.3_Frame_Shift_Ins_p.I160fs|RSPRY1_uc002eld.3_Frame_Shift_Ins_p.I160fs	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	160						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						ACCAGCTGTTATAACATTGTTA	0.347													T	57243063	-	T	57243062	7	5	277	1	0	1	1	0	0	0	0	0	13713	1406	49	0	489	0	RSPRY1	16	57243062	Frame_Shift_Ins	INS	-	TCGA-HU-A4H0-01A-11D-A25D-08	2276552	57243062	33111691	146	142756											
DVL2	1856	broad.mit.edu	37	chr17	7130478	7130478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggtgatcttgttgaCggtgtgtcggatcaggcctg	16	6	2	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:7130478C>T	uc002gez.1	-	13	1756	c.1474G>A	c.(1474-1476)GTC>ATC	p.V492I	DVL2_uc010vtr.1_Missense_Mutation_p.V486I	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	492	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						ATCTTGTTGACGGTGTGTCGG	0.592													T	7130478	C	T	7130478	3	4	277	1	0	0	0	0	1	0	0	0	4836	536	19	1	748	1	DVL2	17	7130478	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08		7130478	74064732	147	142757											
NCOR1	9611	broad.mit.edu	37	chr17	15973507	15973507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgttcatcatgggtgaGcctctggacatggtgttttg	13	7	4	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:15973507G>A	uc002gpo.2	-	31	4725	c.4485C>T	c.(4483-4485)GGC>GGT	p.G1495G	NCOR1_uc002gpn.2_Silent_p.G1511G|NCOR1_uc002gpp.1_Silent_p.G1402G|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Silent_p.G79G|NCOR1_uc010coy.2_Silent_p.G403G|NCOR1_uc010vwc.1_Silent_p.G306G	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1495	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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATGGGTGAGCCTCTGGACA	0.413													A	15973507	G	A	15973507	2	1	277	1	0	0	0	0	0	0	0	1	10235	958	34	2		2	NCOR1	17	15973507	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	8843029	15973507	65221703	148	142758											
EFCAB5	374786	broad.mit.edu	37	chr17	28419089	28419089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaacgtgaaactagtgCgtgacatcctgaaggcggtt	12	9	0	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:28419089C>T	uc002het.2	+	21	4330	c.4138C>T	c.(4138-4140)CGT>TGT	p.R1380C	EFCAB5_uc010cse.2_Missense_Mutation_p.R1135C|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1380							calcium ion binding			ovary(1)|skin(1)	2						GAAACTAGTGCGTGACATCCT	0.388													T	28419089	C	T	28419089	3	4	277	1	0	0	0	0	1	0	0	0	4938	768	27	1	4387	1	EFCAB5	17	28419089	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	12445582	28419089	52776121	149	142759											
ERBB2	2064	broad.mit.edu	37	chr17	37880261	37880261	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagccaacaaagaaatcttaGacgtaagcccctccaccctc	5	15	1	2	rs121913468		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:37880261G>T	uc002hso.2	+	19	2543	c.2305G>T	c.(2305-2307)GAC>TAC	p.D769Y	ERBB2_uc002hsm.2_Missense_Mutation_p.D739Y|ERBB2_uc010cwa.2_Missense_Mutation_p.D754Y|ERBB2_uc002hsp.2_Missense_Mutation_p.D572Y|ERBB2_uc010cwb.2_Missense_Mutation_p.D769Y|ERBB2_uc010wek.1_Missense_Mutation_p.D493Y	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	769	Cytoplasmic (Potential).|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	p.D769H(3)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	AGAAATCTTAGACGTAAGCCC	0.532		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37880261	G	T	37880261	3	4	277	1	0	0	0	0	1	0	0	0	5206	942	33	5	2379	5	ERBB2	17	37880261	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	9461172	37880261	43314949	150	142760											
CACNA1G	8913	broad.mit.edu	37	chr17	48684262	48684262	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctcctccccatcaggCcctgatgtccctgttcgttt	6	17	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:48684262C>G	uc002irk.1	+	24	4796	c.4424C>G	c.(4423-4425)GCC>GGC	p.A1475G	CACNA1G_uc002irj.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irl.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irm.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irn.1_Missense_Mutation_p.A1452G|CACNA1G_uc002iro.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irp.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irq.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irr.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irs.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irt.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irv.1_Missense_Mutation_p.A1475G|CACNA1G_uc002irw.1_Missense_Mutation_p.A1452G|CACNA1G_uc002iru.1_Missense_Mutation_p.A1452G|CACNA1G_uc002irx.1_Missense_Mutation_p.A1388G|CACNA1G_uc002iry.1_Missense_Mutation_p.A1388G|CACNA1G_uc002irz.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isa.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isb.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isc.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isd.1_Missense_Mutation_p.A1388G|CACNA1G_uc002ise.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isf.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isg.1_Missense_Mutation_p.A1388G|CACNA1G_uc002ish.1_Missense_Mutation_p.A1388G|CACNA1G_uc002isi.1_Missense_Mutation_p.A1365G|CACNA1G_uc002isj.2_Missense_Mutation_p.A199G	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1475	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	CCCCATCAGGCCCTGATGTCC	0.562													G	48684262	C	G	48684262	3	3	277	1	0	0	0	0	1	0	0	0	2544	753	26	5	4764	5	CACNA1G	17	48684262	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	10804001	48684262	32510948	151	142761											
DNAI2	64446	broad.mit.edu	37	chr17	72305439	72305439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggagccccgtgaggcCgaccgttttctttaccacca	10	15	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:72305439C>T	uc002jkf.2	+	10	1358	c.1259C>T	c.(1258-1260)CCG>CTG	p.P420L	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_Missense_Mutation_p.R99Q|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	420	WD 5.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CCCGTGAGGCCGACCGTTTTC	0.572									Kartagener_syndrome				T	72305439	C	T	72305439	3	4	277	1	0	0	0	0	1	0	0	0	4610	652	23	1	1293	1	DNAI2	17	72305439	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	23621177	72305439	8889771	152	142762											
RECQL5	9400	broad.mit.edu	37	chr17	73626708	73626708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaactcactcatcagcgGtacgtgttgactggcggttg	14	9	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:73626708G>A	uc010dgl.2	-	13	1865	c.1709C>T	c.(1708-1710)ACC>ATC	p.T570I	RECQL5_uc010dgk.2_Missense_Mutation_p.T543I|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	570					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			CTCATCAGCGGTACGTGTTGA	0.627								Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	73626708	G	A	73626708	3	1	277	1	0	0	0	0	1	0	0	0	13203	1261	44	4	1298	4	RECQL5	17	73626708	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1321269	73626708	7568502	153	142763											
FOXJ1	2302	broad.mit.edu	37	chr17	74134139	74134139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccccccttgcctggttcGtccttctcccgaggcacttt	8	17	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:74134139G>A	uc002jqw.2	-	2	651	c.561C>T	c.(559-561)GAC>GAT	p.D187D	FOXJ1_uc002jqx.2_Silent_p.D187D|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	187	Fork-head.				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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TGCCTGGTTCGTCCTTCTCCC	0.597													A	74134139	G	A	74134139	2	1	277	1	0	0	0	0	0	0	0	1	6011	1136	40	1		1	FOXJ1	17	74134139	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	507431	74134139	7061071	154	142764											
HGS	9146	broad.mit.edu	37	chr17	79660574	79660574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccactgagctgccccCcgagtacctgaccagccccc	7	21	0	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr17:79660574C>T	uc002kbg.2	+	9	781	c.704C>T	c.(703-705)CCC>CTC	p.P235L		NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	235	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			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GAGCTGCCCCCCGAGTACCTG	0.687													T	79660574	C	T	79660574	3	4	277	1	0	0	0	0	1	0	0	0	7087	623	22	4	738	4	HGS	17	79660574	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	5526435	79660574	1534636	155	142765											
EPB41L3	23136	broad.mit.edu	37	chr18	5397321	5397321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcaccacacgccgctcCtccaccaacacggtctcctg	8	20	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:5397321C>T	uc002kmt.1	-	18	2663	c.2577G>A	c.(2575-2577)GAG>GAA	p.E859E	EPB41L3_uc010wzh.1_Silent_p.E690E|EPB41L3_uc002kmu.1_Silent_p.E637E|EPB41L3_uc010dkq.1_Silent_p.E528E|EPB41L3_uc002kms.1_Silent_p.E94E|EPB41L3_uc010wze.1_Silent_p.E164E|EPB41L3_uc010wzf.1_Silent_p.E156E|EPB41L3_uc010wzg.1_Silent_p.E131E|EPB41L3_uc010dkr.2_Silent_p.E251E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	859	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CACGCCGCTCCTCCACCAACA	0.602													T	5397321	C	T	5397321	2	4	277	1	0	0	0	0	0	0	0	1	5154	680	24	4		4	EPB41L3	18	5397321	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08		5397321	72679927	156	142766											
ROCK1	6093	broad.mit.edu	37	chr18	18586552	18586552	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctaagtaagtcattggcttCttctagctatttaaaaagaa	6	7	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:18586552C>A	uc002kte.2	-	16	2586	c.1645G>T	c.(1645-1647)GAA>TAA	p.E549*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	549	Interaction with FHOD1.|Potential.				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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TCATTGGCTTCTTCTAGCTAT	0.333													A	18586552	C	A	18586552	4	1	277	1	0	0	0	0	0	1	0	0	13517	922	32	5	2491	5	ROCK1	18	18586552	Nonsense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	13189231	18586552	59490696	157	142767											
DSG2	1829	broad.mit.edu	37	chr18	29100918	29100919	+	Frame_Shift_Ins	INS	-	-	T													ttgatcgagaagaaacaccaINSttttttctggtaagaagaat							TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:29100918_29100919insT	uc002kwu.3	+	4	557_558	c.369_370insT	c.(367-372)CCATTTfs	p.P123fs		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	123_124	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AAGAAACACCATTTTTTCTGGT	0.297													T	29100919	-	T	29100918	7	5	277	1	0	1	1	0	0	0	0	0	4777	204	8	0	383	0	DSG2	18	29100918	Frame_Shift_Ins	INS	-	TCGA-HU-A4H0-01A-11D-A25D-08	10514366	29100918	48976330	158	142768											
CDH20	28316	broad.mit.edu	37	chr18	59195252	59195252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaggtggagggagccaAtcctcacctagagatgcgtt	12	9	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:59195252A>C	uc010dps.1	+	6	1082	c.1070A>C	c.(1069-1071)AAT>ACT	p.N357T	CDH20_uc002lif.2_Missense_Mutation_p.N351T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	357	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				GAGGGAGCCAATCCTCACCTA	0.473													C	59195252	A	C	59195252	3	2	277	1	0	0	0	0	1	0	0	0	3106	101	4	5	1092	5	CDH20	18	59195252	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	30094334	59195252	18881996	159	142769											
SERPINB5	5268	broad.mit.edu	37	chr18	61170871	61170871	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcagcacaaggatgaattGaatgctgaccatccctttat	8	10	0	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:61170871G>C	uc002liz.3	+	7	1186	c.1044G>C	c.(1042-1044)TTG>TTC	p.L348F		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	348					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						AGGATGAATTGAATGCTGACC	0.413													C	61170871	G	C	61170871	3	2	277	1	0	0	0	0	1	0	0	0	14104	1281	45	5	1066	5	SERPINB5	18	61170871	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	1975619	61170871	16906377	160	142770											
ADNP2	22850	broad.mit.edu	37	chr18	77893967	77893967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taaaaagtgcaacgccaatgCcagcagccaggatgcgttaa	10	10	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr18:77893967C>G	uc002lnw.2	+	4	1126	c.671C>G	c.(670-672)GCC>GGC	p.A224G		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	224	C2H2-type 2.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AACGCCAATGCCAGCAGCCAG	0.398													G	77893967	C	G	77893967	3	3	277	1	0	0	0	0	1	0	0	0	324	739	26	5	681	5	ADNP2	18	77893967	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	16723096	77893967	183281	161	142771											
MAST1	22983	broad.mit.edu	37	chr19	12975973	12975973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacatcgagaaggacgcccGagagttcctggacaaacagg	12	12	0	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:12975973G>A	uc002mvm.2	+	14	1747	c.1619G>A	c.(1618-1620)CGA>CAA	p.R540Q		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	540	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AAGGACGCCCGAGAGTTCCTG	0.602													A	12975973	G	A	12975973	3	1	277	1	0	0	0	0	1	0	0	0	9324	1058	37	1	1673	1	MAST1	19	12975973	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		12975973	46153010	162	142772											
BRD4	23476	broad.mit.edu	37	chr19	15354170	15354170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggggttgggccatggGgggctgtgggagcaggggtg	26	4	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:15354170G>A	uc002nar.2	-	14	2932	c.2710C>T	c.(2710-2712)CCC>TCC	p.P904S		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	904					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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGGCCATGGGGGGCTGTGGG	0.677			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15354170	G	A	15354170	3	1	277	1	0	0	0	0	1	0	0	0	1504	1232	43	4	1406	4	BRD4	19	15354170	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	2378197	15354170	43774813	163	142773											
PIK3R2	5296	broad.mit.edu	37	chr19	18273827	18273827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccaccgagatgggcactAtggcttctcagagccactca	9	14	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:18273827A>G	uc002nia.1	+	10	1672	c.1160A>G	c.(1159-1161)TAT>TGT	p.Y387C	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	387	SH2 1.				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			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						GATGGGCACTATGGCTTCTCA	0.597													G	18273827	A	G	18273827	3	3	277	1	0	0	0	0	1	0	0	0	11919	449	16	3	1194	3	PIK3R2	19	18273827	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	2919657	18273827	40855156	164	142774											
KIAA1683	80726	broad.mit.edu	37	chr19	18378193	18378193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccctcgtgctggggctGtggaggcgctttctccattt	15	11	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:18378193G>A	uc002nin.2	-	3	373	c.157C>T	c.(157-159)CAG>TAG	p.Q53*	KIAA1683_uc010ebn.2_Nonsense_Mutation_p.Q53*|KIAA1683_uc010xqe.1_Nonsense_Mutation_p.Q7*	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	53						mitochondrion				ovary(2)	2						TGCTGGGGCTGTGGAGGCGCT	0.652													A	18378193	G	A	18378193	4	1	277	1	0	0	0	0	0	1	0	0	8251	1386	48	4	3954	4	KIAA1683	19	18378193	Nonsense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	104366	18378193	40750790	165	142775											
FFAR1	2864	broad.mit.edu	37	chr19	35842694	35842694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccggcctcgctgtgcccCgtcttcgcggtggcccactt	12	18	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:35842694C>T	uc002nzc.2	+	1	250	c.240C>T	c.(238-240)CCC>CCT	p.P80P		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	80	Extracellular (Potential).				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)	1	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)	CGCTGTGCCCCGTCTTCGCGG	0.706													T	35842694	C	T	35842694	2	4	277	1	0	0	0	0	0	0	0	1	5827	639	23	1		1	FFAR1	19	35842694	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	17464501	35842694	23286289	166	142776											
LRFN3	79414	broad.mit.edu	37	chr19	36431007	36431007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgacccactcttctcccGcctgcccctgctcgccaggc	7	23	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:36431007G>A	uc002oco.2	+	2	1132	c.680G>A	c.(679-681)CGC>CAC	p.R227H		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	227	Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			CTCTTCTCCCGCCTGCCCCTG	0.701													A	36431007	G	A	36431007	3	1	277	1	0	0	0	0	1	0	0	0	8939	1087	38	1	682	1	LRFN3	19	36431007	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	588313	36431007	22697976	167	142777											
ZNF345	25850	broad.mit.edu	37	chr19	37368219	37368219	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttttggatcaggccttattCgacatcagatcattcacagt	8	9	4	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:37368219C>A	uc002oex.2	+	3	865	c.487C>A	c.(487-489)CGA>AGA	p.R163R	ZNF345_uc002oey.3_Silent_p.R163R|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	163	C2H2-type 4.				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			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGCCTTATTCGACATCAGAT	0.423													A	37368219	C	A	37368219	2	1	277	1	0	0	0	0	0	0	0	1	17856	876	31	5		5	ZNF345	19	37368219	Silent	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	937212	37368219	21760764	168	142778											
MEGF8	1954	broad.mit.edu	37	chr19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggacgagtgtgcaaacGggcaccacgactgcaacgag	14	11	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:42873066G>A	uc002otl.3	+	36	6987	c.6352G>A	c.(6352-6354)GGG>AGG	p.G2118R	MEGF8_uc002otm.3_Missense_Mutation_p.G1726R|MEGF8_uc002otn.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2185	Extracellular (Potential).|EGF-like 5.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622													A	42873066	G	A	42873066	3	1	277	1	0	0	0	0	1	0	0	0	9463	1116	39	1	6494	1	MEGF8	19	42873066	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	5504847	42873066	16255917	169	142779											
CCDC9	26093	broad.mit.edu	37	chr19	47774761	47774762	+	Frame_Shift_Ins	INS	-	-	G													gagtccccttcagtccggagINSgagcccctgctggagcccca							TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:47774760_47774761A>AG	uc010xym.2	+	11	1628_1629	c.1421_1422A>AG	c.(1420-1422)gagfs	p.E474fs	PRR24_uc021uwm.1_5'Flank	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	474										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)		TTCAGTCCGGAGGAGCCCCTGC	0.683													G	47774762	-	G	47774761	7	5	277	1	0	1	1	0	0	0	0	0	2867	991	35	0	1464	0	CCDC9	19	47774761	Frame_Shift_Ins	INS	-	TCGA-HU-A4H0-01A-11D-A25D-08	4901695	47774761	11354222	170	142780											
SIGLEC8	27181	broad.mit.edu	37	chr19	51958738	51958738	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgagcgttctgagctcGgcaggtgaattccccttcat	11	13	2	3	rs141833256		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:51958738G>A	uc002pwt.2	-	4	1052	c.985C>T	c.(985-987)CGA>TGA	p.R329*	SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R220*|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R236*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	329	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.R329Q(1)		ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCTGAGCTCGGCAGGTGAAT	0.637													A	51958738	G	A	51958738	4	1	277	1	0	0	0	0	0	1	0	0	14314	1124	39	1	530	1	SIGLEC8	19	51958738	Nonsense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4183977	51958738	7170245	171	142781											
FPR3	2359	broad.mit.edu	37	chr19	52327945	52327945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaagaaagactgattcGctctttgcccactagtttgg	8	11	1	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr19:52327945G>A	uc002pxt.1	+	2	1128	c.944G>A	c.(943-945)CGC>CAC	p.R315H		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	315	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						AGACTGATTCGCTCTTTGCCC	0.512													A	52327945	G	A	52327945	3	1	277	1	0	0	0	0	1	0	0	0	6040	1087	38	1	946	1	FPR3	19	52327945	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	369207	52327945	6801038	172	142782											
ZNF343	79175	broad.mit.edu	37	chr20	2463941	2463941	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatttccggctaaagcctcGgccacactcactgcacacgt	8	15	1	1	rs143248617		TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:2463941G>A	uc002wge.1	-	6	2154	c.1666C>T	c.(1666-1668)CGA>TGA	p.R556*	ZNF343_uc010gao.1_Nonsense_Mutation_p.R556*|ZNF343_uc002wgd.1_Nonsense_Mutation_p.R466*	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	556	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTAAAGCCTCGGCCACACTCA	0.517													A	2463941	G	A	2463941	4	1	277	1	0	0	0	0	0	1	0	0	17855	1124	39	1	137	1	ZNF343	20	2463941	Nonsense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		2463941	60561579	173	142783											
PLCB4	5332	broad.mit.edu	37	chr20	9402067	9402067	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcatggttatgaataatggaCtcaatccagtttacaatgaa	8	6	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:9402067C>G	uc002wnf.2	+	25	2378	c.2242C>G	c.(2242-2244)CTC>GTC	p.L748V	PLCB4_uc010gbw.1_Missense_Mutation_p.L748V|PLCB4_uc010gbx.2_Missense_Mutation_p.L760V|PLCB4_uc002wne.2_Missense_Mutation_p.L748V|PLCB4_uc002wnh.2_Missense_Mutation_p.L595V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	748	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						GAATAATGGACTCAATCCAGT	0.403													G	9402067	C	G	9402067	3	3	277	1	0	0	0	0	1	0	0	0	12030	565	20	5	2372	5	PLCB4	20	9402067	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	6938126	9402067	53623453	174	142784											
NFS1	9054	broad.mit.edu	37	chr20	34278407	34278407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagcttccagtgaacgGcaggagtccaagacacattt	9	13	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:34278407G>A	uc002xdw.1	-	5	553	c.489C>T	c.(487-489)TGC>TGT	p.C163C	NFS1_uc002xdt.1_Silent_p.C103C|NFS1_uc002xdu.1_Silent_p.C103C|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Intron	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	163					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			ovary(1)|skin(1)	2	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)	CCAGTGAACGGCAGGAGTCCA	0.527													A	34278407	G	A	34278407	2	1	277	1	0	0	0	0	0	0	0	1	10385	1195	42	2		2	NFS1	20	34278407	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	24876340	34278407	28747113	175	142785											
RPN2	6185	broad.mit.edu	37	chr20	35857114	35857114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctacttaatcattggagaTgccactttgaagaacccaat	6	10	2	3			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:35857114T>C	uc002xgp.2	+	12	1765	c.1461T>C	c.(1459-1461)GAT>GAC	p.D487D	RPN2_uc002xgo.3_Silent_p.D487D|RPN2_uc010gfw.2_Silent_p.D330D|RPN2_uc002xgq.2_Silent_p.D455D	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	487	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TCATTGGAGATGCCACTTTGA	0.473													C	35857114	T	C	35857114	2	2	277	1	0	0	0	0	0	0	0	1	13608	1461	51	3		3	RPN2	20	35857114	Silent	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	1578707	35857114	27168406	176	142786											
CTNNBL1	56259	broad.mit.edu	37	chr20	36374931	36374931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcacgtggtggccaccAtgccagacctgtaccacctt	10	14	0	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:36374931A>G	uc010zvw.1	+	4	479	c.388A>G	c.(388-390)ATG>GTG	p.M130V	CTNNBL1_uc002xhh.2_5'UTR|CTNNBL1_uc010zvv.1_Missense_Mutation_p.M103V	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	130					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				GGTGGCCACCATGCCAGACCT	0.502													G	36374931	A	G	36374931	3	3	277	1	0	0	0	0	1	0	0	0	4018	217	8	3	402	3	CTNNBL1	20	36374931	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	517817	36374931	26650589	177	142787											
SLC2A10	81031	broad.mit.edu	37	chr20	45354009	45354009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtggttggcttcgccAtttccctctcctccatggct	10	15	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:45354009A>G	uc002xsl.2	+	2	431	c.334A>G	c.(334-336)ATT>GTT	p.I112V		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	112	Helical; Name=4; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TGGCTTCGCCATTTCCCTCTC	0.657													G	45354009	A	G	45354009	3	3	277	1	0	0	0	0	1	0	0	0	14539	217	8	3	340	3	SLC2A10	20	45354009	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	8979078	45354009	17671511	178	142788											
KCNB1	3745	broad.mit.edu	37	chr20	47989981	47989981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcacactccagtccagCgacagcagccgcagcactcc	10	18	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:47989981C>T	uc002xur.1	-	2	2280	c.2116G>A	c.(2116-2118)GCT>ACT	p.A706T	KCNB1_uc002xus.1_Missense_Mutation_p.A706T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	706	Poly-Ala.|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCAGTCCAGCGACAGCAGCC	0.592													T	47989981	C	T	47989981	3	4	277	1	0	0	0	0	1	0	0	0	8012	768	27	1	464	1	KCNB1	20	47989981	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	2635972	47989981	15035539	179	142789											
GNAS	2778	broad.mit.edu	37	chr20	57415346	57415346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggctgcccaacagcgccGgagcttccttaacgcccacc	10	19	0	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:57415346G>A	uc002xzt.2	+	1	552	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	62					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAACAGCGCCGGAGCTTCCTT	0.692			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			A	57415346	G	A	57415346	3	1	277	1	0	0	0	0	1	0	0	0	6510	1116	39	1	187	1	GNAS	20	57415346	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	9425365	57415346	5610174	180	142790											
TH1L	51497	broad.mit.edu	37	chr20	57568760	57568760	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgttgtcagttacatcCgaaagtgtctggagaagctg	11	8	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:57568760C>T	uc002yag.2	+	13	1576	c.1549C>T	c.(1549-1551)CGA>TGA	p.R517*	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	517					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			CAGTTACATCCGAAAGTGTCT	0.458													T	57568760	C	T	57568760	4	4	277	1	0	0	0	0	0	1	0	0	15836	644	23	1	1599	1	TH1L	20	57568760	Nonsense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	153414	57568760	5456760	181	142791											
CHRNA4	1137	broad.mit.edu	37	chr20	61990990	61990990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaccacttgttgtaaccGgagaagagtttcttcaggag	13	8	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:61990990G>A	uc002yes.2	-	2	316	c.138C>T	c.(136-138)TCC>TCT	p.S46S	CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	46	Extracellular (Potential).				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			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGTTGTAACCGGAGAAGAGTT	0.652													A	61990990	G	A	61990990	2	1	277	1	0	0	0	0	0	0	0	1	3385	1103	39	1		1	CHRNA4	20	61990990	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	4422230	61990990	1034530	182	142792											
ZGPAT	84619	broad.mit.edu	37	chr20	62365998	62365998	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtccatctcttgcagtGgtggggtcggacgccgtgga	15	11	2	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:62365998G>C	uc002ygk.2	+	5	1051	c.873G>C	c.(871-873)GTG>GTC	p.V291V	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Intron|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_Intron|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	291					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				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTCTTGCAGTGGTGGGGTCGG	0.622													C	62365998	G	C	62365998	2	2	277	1	0	0	0	0	0	0	0	1	17671	1362	47	5		5	ZGPAT	20	62365998	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	375008	62365998	659522	183	142793											
MYT1	4661	broad.mit.edu	37	chr20	62836422	62836422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcacaggctcagggcacGtccggggcaagtactccagg	15	12	1	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr20:62836422G>A	uc002yii.2	+	5	485	c.121G>A	c.(121-123)GTC>ATC	p.V41I	MYT1_uc002yih.2_Missense_Mutation_p.V41I|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	41	C2HC-type 1.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTCAGGGCACGTCCGGGGCAA	0.602													A	62836422	G	A	62836422	3	1	277	1	0	0	0	0	1	0	0	0	10106	1145	40	1	131	1	MYT1	20	62836422	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	470424	62836422	189098	184	142794											
UMODL1	89766	broad.mit.edu	37	chr21	43496205	43496205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgcagacgtcctacacGtcctatgtgtcctgcggcgg	13	14	0	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr21:43496205G>A	uc002zaf.1	+	2	168	c.168G>A	c.(166-168)ACG>ACA	p.T56T	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Silent_p.T56T|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	56	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CGTCCTACACGTCCTATGTGT	0.597													A	43496205	G	A	43496205	2	1	277	1	0	0	0	0	0	0	0	1	16977	1132	40	1		1	UMODL1	21	43496205	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		43496205	4633690	185	142795											
GAB4	128954	broad.mit.edu	37	chr22	17472957	17472957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcacagaggttcaggTtgatggtgcgcaggggcttc	16	9	2	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:17472957T>C	uc002zlw.2	-	2	392	c.284A>G	c.(283-285)AAC>AGC	p.N95S	GAB4_uc010gqs.1_Missense_Mutation_p.N95S	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	95	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GAGGTTCAGGTTGATGGTGCG	0.493													C	17472957	T	C	17472957	3	2	277	1	0	0	0	0	1	0	0	0	6151	1725	60	3	1476	3	GAB4	22	17472957	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08		17472957	33831609	186	142796											
ZNF74	7625	broad.mit.edu	37	chr22	20754927	20754927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatgtcatttcaggaatcGgtgagtttcaaggatgtggc	12	5	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:20754927G>A	uc010gsm.2	+	4	338	c.126G>A	c.(124-126)TCG>TCA	p.S42S	ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Silent_p.S42S|ZNF74_uc002zsi.2_5'UTR|ZNF74_uc010gsn.2_5'UTR	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	42					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			TTCAGGAATCGGTGAGTTTCA	0.498													A	20754927	G	A	20754927	2	1	277	1	0	0	0	0	0	0	0	1	18124	1103	39	1		1	ZNF74	22	20754927	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	3281970	20754927	30549639	187	142797											
PIWIL3	440822	broad.mit.edu	37	chr22	25124344	25124344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggatacaaatcacctTgaaaaccagcaaacatgaca	8	10	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:25124344T>C	uc003abd.1	-	15	2149	c.1732A>G	c.(1732-1734)AAG>GAG	p.K578E	PIWIL3_uc011ajx.1_Intron|PIWIL3_uc011ajy.1_Intron|PIWIL3_uc010gut.1_Intron	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	578	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						CAAATCACCTTGAAAACCAGC	0.408													C	25124344	T	C	25124344	3	2	277	1	0	0	0	0	1	0	0	0	11959	1821	63	3	944	3	PIWIL3	22	25124344	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	4369417	25124344	26180222	188	142798											
PLA2G3	50487	broad.mit.edu	37	chr22	31533765	31533765	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaagcctgggagagaccaTagggtcctggagggctgtgg	17	8	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:31533765T>C	uc003aka.2	-	4	1126	c.997A>G	c.(997-999)ATG>GTG	p.M333V		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	333					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						GGAGAGACCATAGGGTCCTGG	0.617													C	31533765	T	C	31533765	3	2	277	1	0	0	0	0	1	0	0	0	12000	1406	49	3	548	3	PLA2G3	22	31533765	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	6409421	31533765	19770801	189	142799											
MYH9	4627	broad.mit.edu	37	chr22	36708139	36708139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatcagctttgtccttcagCtgcttgggcttctggaactt	9	10	3	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chr22:36708139C>A	uc003apg.2	-	14	1914	c.1683G>T	c.(1681-1683)CAG>CAT	p.Q561H	MYH9_uc003aph.1_Missense_Mutation_p.Q425H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	561	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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TGTCCTTCAGCTGCTTGGGCT	0.582			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				A	36708139	C	A	36708139	3	1	277	1	0	0	0	0	1	0	0	0	10042	796	28	5	4311	5	MYH9	22	36708139	Missense_Mutation	SNP	C	TCGA-HU-A4H0-01A-11D-A25D-08	5174374	36708139	14596427	190	142800											
DMD	1756	broad.mit.edu	37	chrX	32398721	32398721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagctgccagccattctGtcaagacattcatttccttt	6	12	3	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:32398721G>T	uc004dda.1	-	34	4995	c.4751C>A	c.(4750-4752)ACA>AAA	p.T1584K	DMD_uc004dcw.2_Missense_Mutation_p.T240K|DMD_uc004dcx.2_Missense_Mutation_p.T243K|DMD_uc004dcz.2_Missense_Mutation_p.T1461K|DMD_uc004dcy.1_Missense_Mutation_p.T1580K|DMD_uc004ddb.1_Missense_Mutation_p.T1576K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1584	Spectrin 11.|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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				CAGCCATTCTGTCAAGACATT	0.383													T	32398721	G	T	32398721	3	4	277	1	0	0	0	0	1	0	0	0	4580	1377	48	5	6638	5	DMD	23	32398721	Missense_Mutation	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08		32398721	122871839	191	142801											
IRS4	8471	broad.mit.edu	37	chrX	107977572	107977572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacttctttggcttctTtgcattctttcgtggctcct	6	12	4	0			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:107977572T>G	uc004eoc.2	-	1	2036	c.2003A>C	c.(2002-2004)AAA>ACA	p.K668T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	668						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TTTGGCTTCTTTGCATTCTTT	0.507													G	107977572	T	G	107977572	3	3	277	1	0	0	0	0	1	0	0	0	7842	1841	64	5	1774	5	IRS4	23	107977572	Missense_Mutation	SNP	T	TCGA-HU-A4H0-01A-11D-A25D-08	75578851	107977572	47292988	192	142802											
MCF2	4168	broad.mit.edu	37	chrX	138708381	138708381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgctcaaacttccataGttgcagatactgctccattt	5	12	1	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:138708381G>A	uc004fau.2	-	6	952	c.658C>T	c.(658-660)CTA>TTA	p.L220L	MCF2_uc004fav.2_Silent_p.L220L|MCF2_uc011mwl.1_Silent_p.L181L|MCF2_uc010nsh.1_Silent_p.L220L|MCF2_uc011mwm.1_Silent_p.L181L|MCF2_uc011mwn.1_Silent_p.L365L|MCF2_uc004faw.2_Silent_p.L280L|MCF2_uc011mwo.1_Silent_p.L280L	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	220					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			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AACTTCCATAGTTGCAGATAC	0.333													A	138708381	G	A	138708381	2	1	277	1	0	0	0	0	0	0	0	1	9378	1020	36	4		4	MCF2	23	138708381	Silent	SNP	G	TCGA-HU-A4H0-01A-11D-A25D-08	30730809	138708381	16562179	193	142803											
SLITRK2	84631	broad.mit.edu	37	chrX	144905049	144905049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcactaatatctctgAcctgcagcccaaaccgacca	6	14	2	1			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:144905049A>T	uc004fcd.2	+	5	2096	c.1106A>T	c.(1105-1107)GAC>GTC	p.D369V	SLITRK2_uc010nsp.2_Missense_Mutation_p.D369V|SLITRK2_uc010nso.2_Missense_Mutation_p.D369V|SLITRK2_uc011mwq.1_Missense_Mutation_p.D369V|SLITRK2_uc011mwr.1_Missense_Mutation_p.D369V|SLITRK2_uc011mws.1_Missense_Mutation_p.D369V|SLITRK2_uc004fcg.2_Missense_Mutation_p.D369V|SLITRK2_uc011mwt.1_Missense_Mutation_p.D369V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	369	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AATATCTCTGACCTGCAGCCC	0.458													T	144905049	A	T	144905049	3	4	277	1	0	0	0	0	1	0	0	0	14743	275	10	5	1108	5	SLITRK2	23	144905049	Missense_Mutation	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	6196668	144905049	10365511	194	142804											
AFF2	2334	broad.mit.edu	37	chrX	148055009	148055009	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtttcagttcgagaaAtttggcaaagctgtgaatta	9	6	1	2			TCGA-HU-A4H0-01A-11D-A25D-08	TCGA-HU-A4H0-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7116cc90-f465-4e7e-aa27-48a83ed258e9	dcdf6e0b-30ac-405b-a44e-6086296e70e1	g.chrX:148055009A>G	uc004fcp.2	+	16	3755	c.3276A>G	c.(3274-3276)AAA>AAG	p.K1092K	AFF2_uc004fcq.2_Silent_p.K1082K|AFF2_uc004fcr.2_Silent_p.K1053K|AFF2_uc011mxb.1_Silent_p.K1057K|AFF2_uc004fcs.2_Silent_p.K1057K|AFF2_uc011mxc.1_Silent_p.K733K	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1092					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCGAGAAATTTGGCAAAG	0.378													G	148055009	A	G	148055009	2	3	277	1	0	0	0	0	0	0	0	1	357	98	4	3		3	AFF2	23	148055009	Silent	SNP	A	TCGA-HU-A4H0-01A-11D-A25D-08	3149960	148055009	7215551	195	142805											
C1orf127	148345	broad.mit.edu	37	chr1	11024242	11024242	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagccttgaccttagcatCggacacttcattatgtagcg	8	13	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:11024242C>T	uc010oao.1	-	1	17	c.12G>A	c.(10-12)CCG>CCA	p.P4P	C1orf127_uc001arr.1_Silent_p.P4P|C1orf127_uc001ars.1_Silent_p.P4P	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	4										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACCTTAGCATCGGACACTTCA	0.542													T	11024242	C	T	11024242	2	4	278	1	0	0	0	0	0	0	0	1	1994	871	31	1		1	C1orf127	1	11024242	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		11024242	238226379	1	142806											
NR0B2	8431	broad.mit.edu	37	chr1	27239982	27239982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggactccagacagcaTtgaagccactgcaccgcagc	10	14	0	3	rs139159423		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:27239982T>C	uc001bnf.2	-	1	586	c.450A>G	c.(448-450)CAA>CAG	p.Q150Q		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	150	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		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)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|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)		CCAGACAGCATTGAAGCCACT	0.597													C	27239982	T	C	27239982	2	2	278	1	0	0	0	0	0	0	0	1	10614	1490	52	3		3	NR0B2	1	27239982	Silent	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	16215740	27239982	222010639	2	142807											
HIVEP3	59269	broad.mit.edu	37	chr1	42048532	42048532	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccgagcaccacatatgTtacattcgtagatcacccct	6	13	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:42048532T>G	uc001cgz.3	-	4	3150	c.1937A>C	c.(1936-1938)AAC>ACC	p.N646T	HIVEP3_uc001cha.3_Missense_Mutation_p.N646T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	646	C2H2-type 3; degenerate.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCACATATGTTACATTCGTA	0.478													G	42048532	T	G	42048532	3	3	278	1	0	0	0	0	1	0	0	0	7188	1725	60	5	5307	5	HIVEP3	1	42048532	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	14808550	42048532	207202089	3	142808											
HIVEP3	59269	broad.mit.edu	37	chr1	42048615	42048615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgggttccacttcgtcCgagggcttggaggctgtgtc	14	11	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:42048615C>T	uc001cgz.3	-	4	3067	c.1854G>A	c.(1852-1854)TCG>TCA	p.S618S	HIVEP3_uc001cha.3_Silent_p.S618S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	618	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCACTTCGTCCGAGGGCTTGG	0.517													T	42048615	C	T	42048615	2	4	278	1	0	0	0	0	0	0	0	1	7188	639	23	1		1	HIVEP3	1	42048615	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	83	42048615	207202006	4	142809											
ZFYVE9	9372	broad.mit.edu	37	chr1	52811788	52811788	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgcagtacatgaatgaTctggacagcgccttggtgcc	11	13	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:52811788T>C	uc001cto.2	+	19	4345	c.4173T>C	c.(4171-4173)GAT>GAC	p.D1391D	ZFYVE9_uc001ctp.2_Silent_p.D1332D	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1391					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			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						ACATGAATGATCTGGACAGCG	0.522													C	52811788	T	C	52811788	2	2	278	1	0	0	0	0	0	0	0	1	17668	1432	50	3		3	ZFYVE9	1	52811788	Silent	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	10763173	52811788	196438833	5	142810											
FGGY	55277	broad.mit.edu	37	chr1	60073568	60073568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgaaggtggtcagagcGttactggaaaattggtaagt	14	3	1	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:60073568G>A	uc001czi.3	+	9	1209	c.997G>A	c.(997-999)GTT>ATT	p.V333I	FGGY_uc001czg.2_Missense_Mutation_p.V221I|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.V333I|FGGY_uc001czj.3_Missense_Mutation_p.V332I|FGGY_uc001czk.3_Missense_Mutation_p.V221I|FGGY_uc001czl.3_Missense_Mutation_p.V245I|FGGY_uc001czm.3_Missense_Mutation_p.V34I	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	333					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TGGTCAGAGCGTTACTGGAAA	0.433													A	60073568	G	A	60073568	3	1	278	1	0	0	0	0	1	0	0	0	5871	1145	40	1	1027	1	FGGY	1	60073568	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	7261780	60073568	189177053	6	142811											
TNNI3K	51086	broad.mit.edu	37	chr1	74957907	74957907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagaagtcgtttcgaattgGaatatgctctaaatgcaagg	10	5	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:74957907G>A	uc001dgf.1	+	23	2359	c.2308G>A	c.(2308-2310)GAA>AAA	p.E770K	TNNI3K_uc001dge.1_Missense_Mutation_p.E871K	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	770						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCGAATTGGAATATGCTCT	0.448													A	74957907	G	A	74957907	3	1	278	1	0	0	0	0	1	0	0	0	16326	1175	41	4	2753	4	TNNI3K	1	74957907	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	14884339	74957907	174292714	7	142812											
AMY2A	279	broad.mit.edu	37	chr1	104160230	104160230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggatttggaggggttcaGgtgggtatgattcatagtat	16	2	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:104160230G>T	uc001dut.2	+	1	232	c.168G>T	c.(166-168)CAG>CAT	p.Q56H	AMY2A_uc010ouq.1_Missense_Mutation_p.Q56H	NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	56					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GAGGGGTTCAGGTGGGTATGA	0.413													T	104160230	G	T	104160230	3	4	278	1	0	0	0	0	1	0	0	0	594	1014	35	5	170	5	AMY2A	1	104160230	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	29202323	104160230	145090391	8	142813											
C1orf183	55924	broad.mit.edu	37	chr1	112269837	112269837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtcaggccgcacactaCgcaagaacttcttaaagatg	9	12	2	2	rs139428718	by1000genomes	TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:112269837C>T	uc001ebo.1	-	2	805	c.647G>A	c.(646-648)CGT>CAT	p.R216H	C1orf183_uc001ebp.1_Missense_Mutation_p.R201H	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	216										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)		CCGCACACTACGCAAGAACTT	0.617													T	112269837	C	T	112269837	3	4	278	1	0	0	0	0	1	0	0	0	2019	536	19	1	250	1	C1orf183	1	112269837	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	8109607	112269837	136980784	9	142814											
TCHH	7062	broad.mit.edu	37	chr1	152082181	152082181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagctcctcttcctcgCggtattgcctctccagctcc	8	18	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:152082181C>T	uc001ezp.2	-	2	3512	c.3512G>A	c.(3511-3513)CGC>CAC	p.R1171H	TCHH_uc009wne.1_Missense_Mutation_p.R1171H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1171	4-9.|10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcttcctcGCGGTATTGCCT	0.174													T	152082181	C	T	152082181	3	4	278	1	0	0	0	0	1	0	0	0	15697	768	27	1	2323	1	TCHH	1	152082181	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	39812344	152082181	97168440	10	142815											
LCE2B	26239	broad.mit.edu	37	chr1	152659375	152659375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccaagtgtcctcccaAgtgtaccccaaaatgtccac	5	18	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:152659375A>G	uc001fai.2	+	2	110	c.56A>G	c.(55-57)AAG>AGG	p.K19R		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	19	Pro-rich.|Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTCCCAAGTGTACCCCA	0.522													G	152659375	A	G	152659375	3	3	278	1	0	0	0	0	1	0	0	0	8666	72	3	3	58	3	LCE2B	1	152659375	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	577194	152659375	96591246	11	142816											
IVL	3713	broad.mit.edu	37	chr1	152882720	152882720	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagcaactgggaatgaagaaAgagcaactgttggagctccc	13	8	0	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:152882720A>T	uc001fau.2	+	2	493	c.447A>T	c.(445-447)AAA>AAT	p.K149N		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	149					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	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)			GAATGAAGAAAGAGCAACTGT	0.284													T	152882720	A	T	152882720	3	4	278	1	0	0	0	0	1	0	0	0	7929	69	3	5	449	5	IVL	1	152882720	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	223345	152882720	96367901	12	142817											
INSRR	3645	broad.mit.edu	37	chr1	156812986	156812986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagttcccggattatcgagAtctgctcccgaggcacctcc	9	16	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:156812986A>T	uc010pht.1	-	17	3190	c.2936T>A	c.(2935-2937)ATC>AAC	p.I979N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	979	Cytoplasmic (Potential).|Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GATTATCGAGATCTGCTCCCG	0.602													T	156812986	A	T	156812986	3	4	278	1	0	0	0	0	1	0	0	0	7774	333	12	5	980	5	INSRR	1	156812986	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	3930266	156812986	92437635	13	142818											
FCRL1	115350	broad.mit.edu	37	chr1	157771938	157771938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacatcctccactgcagccTgggccctgggagccctgagc	12	17	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:157771938T>C	uc001frg.2	-	5	766	c.653A>G	c.(652-654)CAG>CGG	p.Q218R	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.Q218R|FCRL1_uc001fri.2_Missense_Mutation_p.Q218R|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	218	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTGCAGCCTGGGCCCTGGG	0.567													C	157771938	T	C	157771938	3	2	278	1	0	0	0	0	1	0	0	0	5794	1580	55	3	730	3	FCRL1	1	157771938	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	958952	157771938	91478683	14	142819											
CD1C	911	broad.mit.edu	37	chr1	158262135	158262135	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtctcctggatgcagggaAgatgtatgtacacaggcaag	15	7	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:158262135A>T	uc001fru.2	+	3	882	c.590A>T	c.(589-591)AAG>ATG	p.K197M	CD1C_uc001frv.2_Translation_Start_Site	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	197	Extracellular (Potential).				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			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					GATGCAGGGAAGATGTATGTA	0.458													T	158262135	A	T	158262135	3	4	278	1	0	0	0	0	1	0	0	0	2976	72	3	5	600	5	CD1C	1	158262135	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	490197	158262135	90988486	15	142820											
EDEM3	80267	broad.mit.edu	37	chr1	184701990	184701990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggataaggaaggccaCtggtagtgttgaaagccggt	14	7	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:184701990C>T	uc010pok.1	-	6	854	c.593G>A	c.(592-594)AGT>AAT	p.S198N	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.S198N|EDEM3_uc001gqy.2_Missense_Mutation_p.S121N	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	198					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						AGGAAGGCCACTGGTAGTGTT	0.358													T	184701990	C	T	184701990	3	4	278	1	0	0	0	0	1	0	0	0	4913	565	20	4	2265	4	EDEM3	1	184701990	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	26439855	184701990	64548631	16	142821											
PIGR	5284	broad.mit.edu	37	chr1	207103709	207103709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcggcggccacggtgctgGactggagcaggaagtctttg	16	11	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:207103709G>A	uc001hez.2	-	11	2433	c.2249C>T	c.(2248-2250)TCC>TTC	p.S750F	PIGR_uc009xbz.2_Missense_Mutation_p.S750F	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	750	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CACGGTGCTGGACTGGAGCAG	0.617													A	207103709	G	A	207103709	3	1	278	1	0	0	0	0	1	0	0	0	11897	1174	41	4	49	4	PIGR	1	207103709	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	22401719	207103709	42146912	17	142822											
C4BPA	722	broad.mit.edu	37	chr1	207300153	207300153	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactattgtgtttaagtgcCaaaaaggttttgttctcaga	8	6	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:207300153C>T	uc001hfo.2	+	7	996	c.802C>T	c.(802-804)CAA>TAA	p.Q268*		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	268	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GTTTAAGTGCCAAAAAGGTTT	0.418													T	207300153	C	T	207300153	4	4	278	1	0	0	0	0	0	1	0	0	2249	595	21	4	824	4	C4BPA	1	207300153	Nonsense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	196444	207300153	41950468	18	142823											
USH2A	7399	broad.mit.edu	37	chr1	216595587	216595587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagacctcgtgactcaGtcaaggatattgaagcaaaa	10	7	2	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:216595587G>T	uc001hku.1	-	2	479	c.92C>A	c.(91-93)ACT>AAT	p.T31N	USH2A_uc001hkv.2_Missense_Mutation_p.T31N	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	31					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGTGACTCAGTCAAGGATAT	0.453										HNSCC(13;0.011)			T	216595587	G	T	216595587	3	4	278	1	0	0	0	0	1	0	0	0	17033	1029	36	5	15814	5	USH2A	1	216595587	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	9295434	216595587	32655034	19	142824											
ACTA1	58	broad.mit.edu	37	chr1	229568303	229568303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcagcgggcactcacCggtggtcctgccggaggcgt	19	12	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:229568303C>T	uc001htm.2	-	3	559	c.454G>A	c.(454-456)GGC>AGC	p.G152S		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	152					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				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGGCACTCACCGGTGGTCCTG	0.502													T	229568303	C	T	229568303	3	4	278	1	0	0	0	0	1	0	0	0	191	666	23	1	699	1	ACTA1	1	229568303	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	12972716	229568303	19682318	20	142825											
RYR2	6262	broad.mit.edu	37	chr1	237713899	237713899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacactcttctggatgaccGaaccaagaaatccaacaagg	7	12	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr1:237713899G>A	uc001hyl.1	+	27	3242	c.3122G>A	c.(3121-3123)CGA>CAA	p.R1041Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1041	Cytoplasmic (By similarity).|2.|B30.2/SPRY 2.|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CTGGATGACCGAACCAAGAAA	0.522													A	237713899	G	A	237713899	3	1	278	1	0	0	0	0	1	0	0	0	13769	1058	37	1	3228	1	RYR2	1	237713899	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	8145596	237713899	11536722	21	142826											
ATAD2B	54454	broad.mit.edu	37	chr2	24005831	24005831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtcaggtaattatgtTtatcaattttagttattact	6	4	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:24005831T>C	uc002rek.3	-	22	3335	c.3041A>G	c.(3040-3042)AAA>AGA	p.K1014R	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.K254R|ATAD2B_uc002rej.3_Missense_Mutation_p.K182R	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1014	Bromo.						ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAATTATGTTTATCAATTTT	0.318													C	24005831	T	C	24005831	3	2	278	1	0	0	0	0	1	0	0	0	1072	1841	64	3	1363	3	ATAD2B	2	24005831	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08		24005831	219193542	22	142827											
NRXN1	9378	broad.mit.edu	37	chr2	51254789	51254789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccgccgctgttgggcGgctcatcgtccagcttcacc	10	18	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:51254789G>A	uc010fbq.2	-	2	2100	c.623C>T	c.(622-624)CCG>CTG	p.P208L	NRXN1_uc002rxe.3_Missense_Mutation_p.P208L|NRXN1_uc002rxd.1_Missense_Mutation_p.P208L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGTTGGGCGGCTCATCGTC	0.701													A	51254789	G	A	51254789	3	1	278	1	0	0	0	0	1	0	0	0	10665	1116	39	1	4375	1	NRXN1	2	51254789	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	27248958	51254789	191944584	23	142828											
LRRTM4	80059	broad.mit.edu	37	chr2	77746756	77746756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggttaaggccggcaaacTgattggatttgagcttctga	13	7	1	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:77746756T>C	uc002snr.2	-	3	654	c.239A>G	c.(238-240)CAG>CGG	p.Q80R	LRRTM4_uc002snq.2_Missense_Mutation_p.Q80R|LRRTM4_uc002sns.2_Missense_Mutation_p.Q80R|LRRTM4_uc002snt.2_Missense_Mutation_p.Q81R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	80	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GCCGGCAAACTGATTGGATTT	0.418													C	77746756	T	C	77746756	3	2	278	1	0	0	0	0	1	0	0	0	9042	1580	55	3	1547	3	LRRTM4	2	77746756	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	26491967	77746756	165452617	24	142829											
C2orf49	79074	broad.mit.edu	37	chr2	105959540	105959540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaataaaacggaacacaatAataatgacgctaaacagaac	5	8	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:105959540A>G	uc002tcs.1	+	3	534	c.502A>G	c.(502-504)AAT>GAT	p.N168D	C2orf49_uc010fjd.1_Intron	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	ashwin	168						tRNA-splicing ligase complex					0						GGAACACAATAATAATGACGC	0.408													G	105959540	A	G	105959540	3	3	278	1	0	0	0	0	1	0	0	0	2171	362	13	3	512	3	C2orf49	2	105959540	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	28212784	105959540	137239833	25	142830											
GPR39	2863	broad.mit.edu	37	chr2	133175221	133175221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgccaccacgagcagccCgagacctccaatatgtccat	7	18	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:133175221C>T	uc002ttl.2	+	1	1075	c.606C>T	c.(604-606)CCC>CCT	p.P202P		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	202	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						ACGAGCAGCCCGAGACCTCCA	0.622													T	133175221	C	T	133175221	2	4	278	1	0	0	0	0	0	0	0	1	6693	639	23	1		1	GPR39	2	133175221	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	27215681	133175221	110024152	26	142831											
GALNT13	114805	broad.mit.edu	37	chr2	155102467	155102467	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagagaaatggacaggAggaaaggagacagaacatta	12	6	0	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:155102467A>C	uc002tyr.3	+	7	1396	c.829A>C	c.(829-831)AGG>CGG	p.R277R	GALNT13_uc002tyt.3_Silent_p.R277R|GALNT13_uc010foc.1_Silent_p.R96R|GALNT13_uc010fod.2_Silent_p.R30R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	277	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AATGGACAGGAGGAAAGGAGA	0.378													C	155102467	A	C	155102467	2	2	278	1	0	0	0	0	0	0	0	1	6211	295	11	5		5	GALNT13	2	155102467	Silent	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	21927246	155102467	88096906	27	142832											
SCN3A	6328	broad.mit.edu	37	chr2	165947600	165947600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcaaagttgaacatgTcatcaattccagcttccttt	6	10	3	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:165947600T>C	uc002ucx.2	-	28	5555	c.5063A>G	c.(5062-5064)GAC>GGC	p.D1688G	SCN3A_uc010zcy.1_Missense_Mutation_p.D171G|SCN3A_uc002ucy.2_Missense_Mutation_p.D1639G|SCN3A_uc002ucz.2_Missense_Mutation_p.D1639G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1688						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GTTGAACATGTCATCAATTCC	0.423													C	165947600	T	C	165947600	3	2	278	1	0	0	0	0	1	0	0	0	13918	1667	58	3	943	3	SCN3A	2	165947600	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	10845133	165947600	77251773	28	142833											
SCN2A	6326	broad.mit.edu	37	chr2	166172072	166172072	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttcttcagtagcatctaAgttgagctccaaaagtgaaa	9	7	3	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:166172072A>C	uc002udc.2	+	11	1765	c.1475A>C	c.(1474-1476)AAG>ACG	p.K492T	SCN2A_uc002udd.2_Missense_Mutation_p.K492T|SCN2A_uc002ude.2_Missense_Mutation_p.K492T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	492					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GTAGCATCTAAGTTGAGCTCC	0.348													C	166172072	A	C	166172072	3	2	278	1	0	0	0	0	1	0	0	0	13916	72	3	5	1609	5	SCN2A	2	166172072	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	224472	166172072	77027301	29	142834											
TTN	7273	broad.mit.edu	37	chr2	179594952	179594952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcatccttccaaactgAgcgggctgctcctgagtgta	12	11	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:179594952A>G	uc010zfg.1	-	59	14667	c.14443T>C	c.(14443-14445)TCA>CCA	p.S4815P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1476P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5742							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAACTGAGCGGGCTGCT	0.468													G	179594952	A	G	179594952	3	3	278	1	0	0	0	0	1	0	0	0	16732	304	11	3	86558	3	TTN	2	179594952	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	13422880	179594952	63604421	30	142835											
TTN	7273	broad.mit.edu	37	chr2	179611639	179611639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaccaaatgaatcggaaCgccatatttcataagctgaa	8	8	1	2	rs150492317		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:179611639C>T	uc002unb.2	-	46	15712	c.15488G>A	c.(15487-15489)CGT>CAT	p.R5163H	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATCGGAACGCCATATTTC	0.388													T	179611639	C	T	179611639	3	4	278	1	0	0	0	0	1	0	0	0	16732	536	19	1	94809	1	TTN	2	179611639	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	16687	179611639	63587734	31	142836											
ZNF142	7701	broad.mit.edu	37	chr2	219509670	219509670	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcttctgcagctcatacttCcgcttgcaggcgaaggcaca	10	13	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr2:219509670C>A	uc002vin.2	-	8	2005	c.1569G>T	c.(1567-1569)CGG>CGT	p.R523R	ZNF142_uc002vil.2_Silent_p.R484R|ZNF142_uc010fvt.2_Silent_p.R360R|ZNF142_uc002vim.2_Silent_p.R360R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	523	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		GCTCATACTTCCGCTTGCAGG	0.607													A	219509670	C	A	219509670	2	1	278	1	0	0	0	0	0	0	0	1	17728	842	30	5		5	ZNF142	2	219509670	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	39898031	219509670	23689703	32	142837											
SYN2	6854	broad.mit.edu	37	chr3	12182165	12182165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggccaagtgctttcGgggcaaaaaagtccttggag	13	10	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:12182165G>A	uc003bwm.2	+	6	556	c.392G>A	c.(391-393)CGG>CAG	p.R131Q	SYN2_uc003bwl.1_Missense_Mutation_p.R131Q	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	131					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						AAGTGCTTTCGGGGCAAAAAA	0.423													A	12182165	G	A	12182165	3	1	278	1	0	0	0	0	1	0	0	0	15438	1116	39	1	399	1	SYN2	3	12182165	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		12182165	185840265	33	142838											
SCN11A	11280	broad.mit.edu	37	chr3	38950622	38950622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttaagttaatcaggtagaAggagcccaggaaaatgacca	12	6	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:38950622A>C	uc011ays.1	-	9	1364	c.1165T>G	c.(1165-1167)TTC>GTC	p.F389V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	389	I.|Helical; Name=S6 of repeat I; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATCAGGTAGAAGGAGCCCAGG	0.448													C	38950622	A	C	38950622	3	2	278	1	0	0	0	0	1	0	0	0	13913	72	3	5	4282	5	SCN11A	3	38950622	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	26768457	38950622	159071808	34	142839											
CACNA2D2	9254	broad.mit.edu	37	chr3	50405113	50405113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaccgtctgtggcagCgaacacggccagtaggctgt	14	12	1	0	rs148442391		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:50405113C>T	uc003daq.2	-	27	2316	c.2278G>A	c.(2278-2280)GCT>ACT	p.A760T	CACNA2D2_uc003dap.2_Missense_Mutation_p.A753T|CACNA2D2_uc003dao.2_5'Flank	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	760	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCTGTGGCAGCGAACACGGCC	0.632													T	50405113	C	T	50405113	3	4	278	1	0	0	0	0	1	0	0	0	2549	768	27	1	1232	1	CACNA2D2	3	50405113	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	11454491	50405113	147617317	35	142840											
DNAH12	201625	broad.mit.edu	37	chr3	57494188	57494188	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taacattttcatagttggatGaataatgtgcaaattagaga	8	3	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:57494188G>A	uc003dit.2	-	7	803	c.622C>T	c.(622-624)CAT>TAT	p.H208Y	DNAH12_uc003diu.2_Missense_Mutation_p.H208Y	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	208	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2						ATAGTTGGATGAATAATGTGC	0.343													A	57494188	G	A	57494188	3	1	278	1	0	0	0	0	1	0	0	0	4600	1290	45	4	8911	4	DNAH12	3	57494188	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	7089075	57494188	140528242	36	142841											
EPHA6	285220	broad.mit.edu	37	chr3	96533679	96533679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggacaaggacccccatcCtacccagaacacctgcctgc	8	18	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:96533679C>A	uc010how.1	+	1	255	c.212C>A	c.(211-213)CCT>CAT	p.P71H	EPHA6_uc003drp.1_Missense_Mutation_p.P71H	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment						integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GACCCCCATCCTACCCAGAAC	0.562													A	96533679	C	A	96533679	3	1	278	1	0	0	0	0	1	0	0	0	5171	681	24	5	214	5	EPHA6	3	96533679	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	39039491	96533679	101488751	37	142842											
STXBP5L	9515	broad.mit.edu	37	chr3	120973864	120973864	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgccattcagatgatttacTggtgtccagagagcagaata	10	7	1	4			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:120973864T>A	uc003eec.3	+	16	1704	c.1564T>A	c.(1564-1566)TGG>AGG	p.W522R	STXBP5L_uc011bji.1_Missense_Mutation_p.W522R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	522	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GATGATTTACTGGTGTCCAGA	0.353													A	120973864	T	A	120973864	3	1	278	1	0	0	0	0	1	0	0	0	15356	1580	55	5	1622	5	STXBP5L	3	120973864	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	24440185	120973864	77048566	38	142843											
CHST13	166012	broad.mit.edu	37	chr3	126260803	126260803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcccgcggcgacccgcgCgccatctccgcgcaagaggc	13	19	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:126260803C>T	uc003eja.2	+	3	408	c.408C>T	c.(406-408)CGC>CGT	p.R136R		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	136	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		GCGACCCGCGCGCCATCTCCG	0.721													T	126260803	C	T	126260803	2	4	278	1	0	0	0	0	0	0	0	1	3401	755	27	1		1	CHST13	3	126260803	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	5286939	126260803	71761627	39	142844											
EEFSEC	60678	broad.mit.edu	37	chr3	127983559	127983559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggccaaggcactgtgAtgacagggaccatcctttca	10	11	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:127983559A>G	uc003eki.2	+	4	759	c.721A>G	c.(721-723)ATG>GTG	p.M241V	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	241						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						AGGCACTGTGATGACAGGGAC	0.562													G	127983559	A	G	127983559	3	3	278	1	0	0	0	0	1	0	0	0	4931	333	12	3	735	3	EEFSEC	3	127983559	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	1722756	127983559	70038871	40	142845											
IFT122	55764	broad.mit.edu	37	chr3	129180108	129180108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtctcctacaatcctAttactcatcaactggcatct	4	12	4	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:129180108A>G	uc003emm.2	+	5	516	c.310A>G	c.(310-312)ATT>GTT	p.I104V	IFT122_uc003eml.2_Missense_Mutation_p.I155V|IFT122_uc003emn.2_Missense_Mutation_p.I104V|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Missense_Mutation_p.I155V|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'Flank|IFT122_uc011bla.1_5'Flank|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_5'Flank	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	104	WD 3.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CTACAATCCTATTACTCATCA	0.408													G	129180108	A	G	129180108	3	3	278	1	0	0	0	0	1	0	0	0	7555	449	16	3	485	3	IFT122	3	129180108	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	1196549	129180108	68842322	41	142846											
TOPBP1	11073	broad.mit.edu	37	chr3	133339033	133339033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactctacttcgtccactgcGagcagagcgagtgctgtcag	12	12	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:133339033G>A	uc003eps.2	-	20	3469	c.3337C>T	c.(3337-3339)CGC>TGC	p.R1113C	TOPBP1_uc003ept.1_Missense_Mutation_p.R117C	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1113					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CGTCCACTGCGAGCAGAGCGA	0.502								Other_conserved_DNA_damage_response_genes					A	133339033	G	A	133339033	3	1	278	1	0	0	0	0	1	0	0	0	16366	1058	37	1	1267	1	TOPBP1	3	133339033	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	4158925	133339033	64683397	42	142847											
TOPBP1	11073	broad.mit.edu	37	chr3	133372361	133372361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catctcttggcacactcataCttctgacctgtggcgttcat	7	13	4	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:133372361C>G	uc003eps.2	-	7	882	c.750G>C	c.(748-750)AAG>AAC	p.K250N		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	250	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CACACTCATACTTCTGACCTG	0.348								Other_conserved_DNA_damage_response_genes					G	133372361	C	G	133372361	3	3	278	1	0	0	0	0	1	0	0	0	16366	564	20	5	3906	5	TOPBP1	3	133372361	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	33328	133372361	64650069	43	142848											
SI	6476	broad.mit.edu	37	chr3	164764797	164764797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaaaaactttttgtacAgctctaaaaataaaaccaaa	4	6	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:164764797A>G	uc003fei.2	-	16	1781	c.1719T>C	c.(1717-1719)GCT>GCC	p.A573A		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	573	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTTTTGTACAGCTCTAAAAA	0.294										HNSCC(35;0.089)			G	164764797	A	G	164764797	2	3	278	1	0	0	0	0	0	0	0	1	14297	175	7	3		3	SI	3	164764797	Silent	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	31392436	164764797	33257633	44	142849											
SPATA16	83893	broad.mit.edu	37	chr3	172642045	172642045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatattggcaagattcgctTccccattgtctccatttgcc	6	13	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:172642045T>C	uc003fin.3	-	8	1449	c.1291A>G	c.(1291-1293)AAG>GAG	p.K431E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	431					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAGATTCGCTTCCCCATTGTC	0.328													C	172642045	T	C	172642045	3	2	278	1	0	0	0	0	1	0	0	0	15000	1792	62	3	434	3	SPATA16	3	172642045	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	7877248	172642045	25380385	45	142850											
ATP13A5	344905	broad.mit.edu	37	chr3	193081105	193081105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcccacttcttgcttaCaggaaacttcagtgtggata	7	10	3	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr3:193081105C>T	uc011bsq.1	-	3	304	c.304G>A	c.(304-306)GTA>ATA	p.V102I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	102					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		TTCTTGCTTACAGGAAACTTC	0.398													T	193081105	C	T	193081105	3	4	278	1	0	0	0	0	1	0	0	0	1127	478	17	4	3462	4	ATP13A5	3	193081105	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	20439060	193081105	4941325	46	142851											
PCDH7	5099	broad.mit.edu	37	chr4	30723907	30723907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggcggcgacccgcctcGctcctcgcaggccatcctac	11	20	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:30723907G>A	uc003gsk.1	+	1	1871	c.863G>A	c.(862-864)CGC>CAC	p.R288H	PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Missense_Mutation_p.R288H	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	288	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GACCCGCCTCGCTCCTCGCAG	0.672													A	30723907	G	A	30723907	3	1	278	1	0	0	0	0	1	0	0	0	11516	1087	38	1	865	1	PCDH7	4	30723907	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		30723907	160430369	47	142852											
KLF3	51274	broad.mit.edu	37	chr4	38698837	38698837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgaccgcagcttctccCgttctgaccatcttgccctc	7	17	3	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:38698837C>T	uc003gth.3	+	6	1323	c.991C>T	c.(991-993)CGT>TGT	p.R331C		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	331	C2H2-type 3.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CAGCTTCTCCCGTTCTGACCA	0.522													T	38698837	C	T	38698837	3	4	278	1	0	0	0	0	1	0	0	0	8347	652	23	1	1009	1	KLF3	4	38698837	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	7974930	38698837	152455439	48	142853											
LPHN3	23284	broad.mit.edu	37	chr4	62452949	62452949	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttccttttggcagctttCagccgtgccccaattccaat	6	15	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:62452949C>T	uc010ihh.2	+	2	233	c.60C>T	c.(58-60)TTC>TTT	p.F20F	LPHN3_uc003hcq.3_Silent_p.F20F|LPHN3_uc010ihg.1_Silent_p.F88F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	20	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TGGCAGCTTTCAGCCGTGCCC	0.453													T	62452949	C	T	62452949	2	4	278	1	0	0	0	0	0	0	0	1	8917	825	29	4		4	LPHN3	4	62452949	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	23754112	62452949	128701327	49	142854											
UGT2A3	79799	broad.mit.edu	37	chr4	69817169	69817169	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taattttataactgattgccAggttgataagcctggcaaga	9	6	0	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:69817169A>C	uc003hef.2	-	1	341	c.310T>G	c.(310-312)TGG>GGG	p.W104G	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	104	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						ACTGATTGCCAGGTTGATAAG	0.343													C	69817169	A	C	69817169	3	2	278	1	0	0	0	0	1	0	0	0	16952	188	7	5	1297	5	UGT2A3	4	69817169	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	7364220	69817169	121337107	50	142855											
GK2	2712	broad.mit.edu	37	chr4	80329230	80329230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaactcttgtgttaatTccactttgtgatgactaagt	9	6	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:80329230T>G	uc003hlu.2	-	1	143	c.125A>C	c.(124-126)GAA>GCA	p.E42A		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	42					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						TTGTGTTAATTCCACTTTGTG	0.468													G	80329230	T	G	80329230	3	3	278	1	0	0	0	0	1	0	0	0	6421	1783	62	5	1540	5	GK2	4	80329230	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	10512061	80329230	110825046	51	142856											
ADH1B	125	broad.mit.edu	37	chr4	100237383	100237383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacctactcatttttcaaGcagtagttgctctccgggtt	8	10	3	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:100237383G>A	uc003hus.3	-	4	420	c.336C>T	c.(334-336)TGC>TGT	p.C112C	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.C72C|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Silent_p.C72C	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	112		Zinc 2.			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATTTTTCAAGCAGTAGTTGC	0.418													A	100237383	G	A	100237383	2	1	278	1	0	0	0	0	0	0	0	1	308	963	34	2		2	ADH1B	4	100237383	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	19908153	100237383	90916893	52	142857											
FAT4	79633	broad.mit.edu	37	chr4	126397386	126397386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaggatattgtactgtcAgtaatgtggcagtttcagat	11	6	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr4:126397386A>C	uc003ifj.3	+	12	12268	c.12268A>C	c.(12268-12270)AGT>CGT	p.S4090R	FAT4_uc011cgp.1_Missense_Mutation_p.S2353R|FAT4_uc003ifi.1_Missense_Mutation_p.S1568R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4090	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTGTACTGTCAGTAATGTGGC	0.303													C	126397386	A	C	126397386	3	2	278	1	0	0	0	0	1	0	0	0	5692	188	7	5	12314	5	FAT4	4	126397386	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	26160003	126397386	64756890	53	142858											
DNAH5	1767	broad.mit.edu	37	chr5	13766258	13766258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggggggcggcccaacgtgcGaacagtggcgatgtccgaag	18	10	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:13766258G>A	uc003jfd.2	-	59	9970	c.9928C>T	c.(9928-9930)CGC>TGC	p.R3310C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3310	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCCAACGTGCGAACAGTGGCG	0.522									Kartagener_syndrome				A	13766258	G	A	13766258	3	1	278	1	0	0	0	0	1	0	0	0	4604	1058	37	1	4030	1	DNAH5	5	13766258	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		13766258	167149002	54	142859											
DNAH5	1767	broad.mit.edu	37	chr5	13841082	13841082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgtatttcactcgttccGtggaactcagatccctcgtg	8	13	3	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:13841082G>A	uc003jfd.2	-	34	5684	c.5642C>T	c.(5641-5643)ACG>ATG	p.T1881M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1881	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CACTCGTTCCGTGGAACTCAG	0.398									Kartagener_syndrome				A	13841082	G	A	13841082	3	1	278	1	0	0	0	0	1	0	0	0	4604	1145	40	1	8416	1	DNAH5	5	13841082	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	74824	13841082	167074178	55	142860											
RGS7BP	401190	broad.mit.edu	37	chr5	63871703	63871703	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctaaaatccatatgtctGctggggtctcttcagtttca	8	9	4	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:63871703G>T	uc003jtj.2	+	3	435	c.435G>T	c.(433-435)CTG>CTT	p.L145L	RGS7BP_uc011cqu.1_Silent_p.L12L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding	145					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane					0		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCATATGTCTGCTGGGGTCTC	0.423													T	63871703	G	T	63871703	2	4	278	1	0	0	0	0	0	0	0	1	13311	1306	46	5		5	RGS7BP	5	63871703	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	50030621	63871703	117043557	56	142861											
ELL2	22936	broad.mit.edu	37	chr5	95278738	95278738	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggaactggattgaaggtcGaaaaggaattaaattctatt	10	3	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:95278738G>A	uc003klr.3	-	2	513	c.163C>T	c.(163-165)CGA>TGA	p.R55*		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	55					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		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)		ATTGAAGGTCGAAAAGGAATT	0.318													A	95278738	G	A	95278738	4	1	278	1	0	0	0	0	0	1	0	0	5063	1066	37	1	1803	1	ELL2	5	95278738	Nonsense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	31407035	95278738	85636522	57	142862											
FAM174A	345757	broad.mit.edu	37	chr5	99871318	99871318	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcctgaactaagcggGcccctggcagtcctgctgca	12	14	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:99871318G>T	uc003knj.1	+	1	204	c.84G>T	c.(82-84)GGG>GGT	p.G28G	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	28						integral to membrane					0						AACTAAGCGGGCCCCTGGCAG	0.672													T	99871318	G	T	99871318	2	4	278	1	0	0	0	0	0	0	0	1	5495	1190	42	5		5	FAM174A	5	99871318	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	4592580	99871318	81043942	58	142863											
ST8SIA4	7903	broad.mit.edu	37	chr5	100192077	100192077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacatctgcagcaaacTccaccacaggagctagatta	6	14	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:100192077T>C	uc003knk.2	-	4	855	c.527A>G	c.(526-528)GAG>GGG	p.E176G		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	176	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TGCAGCAAACTCCACCACAGG	0.363													C	100192077	T	C	100192077	3	2	278	1	0	0	0	0	1	0	0	0	15233	1551	54	3	560	3	ST8SIA4	5	100192077	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	320759	100192077	80723183	59	142864											
PCDHA10	56139	broad.mit.edu	37	chr5	140236968	140236968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgtctgtggaggtggcCgacgtgaacgacaacgcgcc	16	11	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:140236968C>T	uc003lhx.2	+	1	1335	c.1335C>T	c.(1333-1335)GCC>GCT	p.A445A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.A445A|PCDHA10_uc011dad.1_Silent_p.A445A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	445	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCCGACGTGAACG	0.672													T	140236968	C	T	140236968	2	4	278	1	0	0	0	0	0	0	0	1	11520	639	23	1		1	PCDHA10	5	140236968	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	40044891	140236968	40678292	60	142865											
PCDHB8	56128	broad.mit.edu	37	chr5	140559623	140559623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggacggcttctcccagCcctacctgccgcttccggag	12	16	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:140559623C>A	uc011dai.1	+	1	2194	c.2008C>A	c.(2008-2010)CCC>ACC	p.P670T	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	670	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCTCCCAGCCCTACCTGCC	0.677													A	140559623	C	A	140559623	3	1	278	1	0	0	0	0	1	0	0	0	11548	739	26	5	2010	5	PCDHB8	5	140559623	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	322655	140559623	40355637	61	142866											
PCDHB14	56122	broad.mit.edu	37	chr5	140604640	140604640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaggtcgctggactaCgaggccctacaggagttcga	13	13	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:140604640C>T	uc003ljb.2	+	1	1563	c.1563C>T	c.(1561-1563)TAC>TAT	p.Y521Y	PCDHB14_uc011dal.1_Silent_p.Y368Y	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	521	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTAC	0.687													T	140604640	C	T	140604640	2	4	278	1	0	0	0	0	0	0	0	1	11539	547	19	1		1	PCDHB14	5	140604640	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	45017	140604640	40310620	62	142867											
HAVCR1	26762	broad.mit.edu	37	chr5	156482248	156482248	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgatacggtgattttcatgtCattgaaccacccacggtgct	9	10	2	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:156482248C>T	uc010jij.1	-	3	528	c.343G>A	c.(343-345)GAC>AAC	p.D115N	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.D115N|HAVCR1_uc011ddm.1_Missense_Mutation_p.D115N	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	115	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	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)			ATTTTCATGTCATTGAACCAC	0.393													T	156482248	C	T	156482248	3	4	278	1	0	0	0	0	1	0	0	0	6973	826	29	4	779	4	HAVCR1	5	156482248	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	15877608	156482248	24433012	63	142868											
GABRG2	2566	broad.mit.edu	37	chr5	161520906	161520906	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgggtcttgactccaaaAgttcctgagggtgatgtcac	11	9	2	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:161520906A>C	uc003lyz.3	+	2	538	c.180A>C	c.(178-180)AAA>AAC	p.K60N	GABRG2_uc010jjc.2_Missense_Mutation_p.K60N|GABRG2_uc003lyy.3_Missense_Mutation_p.K60N|GABRG2_uc011dej.1_5'UTR	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	60	Extracellular (Probable).				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			ovary(4)|skin(1)	5	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)		TGACTCCAAAAGTTCCTGAGG	0.378													C	161520906	A	C	161520906	3	2	278	1	0	0	0	0	1	0	0	0	6172	69	3	5	186	5	GABRG2	5	161520906	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	5038658	161520906	19394354	64	142869											
KCNIP1	30820	broad.mit.edu	37	chr5	169931586	169931586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgctgccatgggggccGtcatgggcaccttctcatct	11	14	4	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr5:169931586G>A	uc003mas.2	+	1	539	c.10G>A	c.(10-12)GTC>ATC	p.V4I	KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Missense_Mutation_p.V4I|KCNIP1_uc010jjp.2_5'UTR|KCNIP1_uc010jjq.2_Missense_Mutation_p.V4I	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	4					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	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)			CATGGGGGCCGTCATGGGCAC	0.577													A	169931586	G	A	169931586	3	1	278	1	0	0	0	0	1	0	0	0	8039	1145	40	1	104	1	KCNIP1	5	169931586	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	8410680	169931586	10983674	65	142870											
EHMT2	10919	broad.mit.edu	37	chr6	31852190	31852190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagatgatcttctctgtgCggatggcccgatttcccacc	11	13	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:31852190C>T	uc003nxz.1	-	21	2760	c.2750G>A	c.(2749-2751)CGC>CAC	p.R917H	EHMT2_uc003nxv.1_5'UTR|EHMT2_uc003nxw.1_5'UTR|EHMT2_uc003nxx.1_Missense_Mutation_p.R115H|EHMT2_uc003nxy.1_Missense_Mutation_p.R715H|EHMT2_uc011don.1_Missense_Mutation_p.R940H|EHMT2_uc003nya.1_Missense_Mutation_p.R883H	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	917					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTTCTCTGTGCGGATGGCCCG	0.632													T	31852190	C	T	31852190	3	4	278	1	0	0	0	0	1	0	0	0	4984	768	27	1	914	1	EHMT2	6	31852190	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		31852190	139262877	66	142871											
VPS52	6293	broad.mit.edu	37	chr6	33231568	33231568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagcacacccagcatcAtgtcatagttgttgatcaga	7	12	4	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:33231568A>G	uc003odm.1	-	16	1919	c.1709T>C	c.(1708-1710)ATG>ACG	p.M570T	VPS52_uc003odn.1_Missense_Mutation_p.M381T	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	570					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ACCCAGCATCATGTCATAGTT	0.393													G	33231568	A	G	33231568	3	3	278	1	0	0	0	0	1	0	0	0	17211	217	8	3	482	3	VPS52	6	33231568	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	1379378	33231568	137883499	67	142872											
LHFPL5	222662	broad.mit.edu	37	chr6	35773558	35773558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcaccatctgcttctcCgtactggtcatggccctctt	6	17	5	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:35773558C>T	uc003olg.1	+	1	488	c.111C>T	c.(109-111)TCC>TCT	p.S37S		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	37	Helical; (Potential).					integral to membrane				skin(1)	1						TCTGCTTCTCCGTACTGGTCA	0.602													T	35773558	C	T	35773558	2	4	278	1	0	0	0	0	0	0	0	1	8768	639	23	1		1	LHFPL5	6	35773558	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	2541990	35773558	135341509	68	142873											
FAM83B	222584	broad.mit.edu	37	chr6	54806758	54806758	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccaatgagaacaagtttCgaggatttatgcaaaagttt	8	6	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:54806758C>T	uc003pck.2	+	5	3105	c.2989C>T	c.(2989-2991)CGA>TGA	p.R997*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	997										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GAACAAGTTTCGAGGATTTAT	0.333													T	54806758	C	T	54806758	4	4	278	1	0	0	0	0	0	1	0	0	5634	876	31	1	3003	1	FAM83B	6	54806758	Nonsense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	19033200	54806758	116308309	69	142874											
RAB23	51715	broad.mit.edu	37	chr6	57075034	57075034	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtacttactgaatttgtcGctccaaaaaatcaactccaa	4	10	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:57075034G>A	uc003pds.2	-	2	351	c.145C>T	c.(145-147)CGA>TGA	p.R49*	RAB23_uc003pdt.2_Nonsense_Mutation_p.R49*|RAB23_uc010kac.2_Nonsense_Mutation_p.R49*|RAB23_uc010kad.2_RNA	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Ras-related protein Rab-23	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			skin(1)	1	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAATTTGTCGCTCCAAAAAA	0.358													A	57075034	G	A	57075034	4	1	278	1	0	0	0	0	0	1	0	0	12910	1095	38	1	592	1	RAB23	6	57075034	Nonsense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	2268276	57075034	114040033	70	142875											
FAM184A	79632	broad.mit.edu	37	chr6	119345138	119345138	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttacctgaacattgttctCtgctatggcaagtgccgtct	8	11	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:119345138C>T	uc003pyj.2	-	2	1348	c.1000G>A	c.(1000-1002)GAG>AAG	p.E334K	FAM184A_uc003pyk.3_Missense_Mutation_p.E214K|FAM184A_uc003pyl.3_Missense_Mutation_p.E214K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	334	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						ACATTGTTCTCTGCTATGGCA	0.368													T	119345138	C	T	119345138	3	4	278	1	0	0	0	0	1	0	0	0	5511	922	32	4	2490	4	FAM184A	6	119345138	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	62270104	119345138	51769929	71	142876											
GRM1	2911	broad.mit.edu	37	chr6	146720482	146720482	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcatgagctgtacctaCtatgccttcaagacccgcaa	6	14	3	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:146720482C>A	uc010khw.1	+	8	2777	c.2307C>A	c.(2305-2307)TAC>TAA	p.Y769*	GRM1_uc010khv.1_Nonsense_Mutation_p.Y769*|GRM1_uc003qll.2_Nonsense_Mutation_p.Y769*|GRM1_uc011edz.1_Nonsense_Mutation_p.Y769*|GRM1_uc011eea.1_Nonsense_Mutation_p.Y769*	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	769	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCTGTACCTACTATGCCTTCA	0.507													A	146720482	C	A	146720482	4	1	278	1	0	0	0	0	0	1	0	0	6796	576	20	5	2333	5	GRM1	6	146720482	Nonsense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	27375344	146720482	24394585	72	142877											
SYNJ2	8871	broad.mit.edu	37	chr6	158487596	158487596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagttccggagcaacgTgctcaggacggcggagctga	15	10	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr6:158487596T>C	uc003qqx.1	+	12	1721	c.1646T>C	c.(1645-1647)GTG>GCG	p.V549A	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.V549A|SYNJ2_uc003qqy.1_Missense_Mutation_p.V262A|SYNJ2_uc011efn.1_Missense_Mutation_p.V477A|SYNJ2_uc010kjo.1_Missense_Mutation_p.V498A|SYNJ2_uc003qqz.1_Missense_Mutation_p.V166A	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	549	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGAGCAACGTGCTCAGGACG	0.587													C	158487596	T	C	158487596	3	2	278	1	0	0	0	0	1	0	0	0	15450	1696	59	3	1692	3	SYNJ2	6	158487596	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	11767114	158487596	12627471	73	142878											
RUNDC3B	154661	broad.mit.edu	37	chr7	87329821	87329821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaagtttcacagaattGtatctgcagcattgaaaata	8	7	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:87329821G>T	uc003ujb.2	+	4	785	c.374G>T	c.(373-375)TGT>TTT	p.C125F	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.C108F|RUNDC3B_uc011khe.1_Missense_Mutation_p.C108F|RUNDC3B_uc003ujc.2_Missense_Mutation_p.C108F|RUNDC3B_uc003ujd.2_Missense_Mutation_p.C30F	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	125	RUN.									skin(1)	1	Esophageal squamous(14;0.00164)					TCACAGAATTGTATCTGCAGC	0.383													T	87329821	G	T	87329821	3	4	278	1	0	0	0	0	1	0	0	0	13745	1377	48	5	388	5	RUNDC3B	7	87329821	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		87329821	71808842	74	142879											
ZNF804B	219578	broad.mit.edu	37	chr7	88956701	88956701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttgctcgaaatgtagCttctaagtcatggaaagatg	11	5	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:88956701C>A	uc011khi.1	+	3	831	c.293C>A	c.(292-294)GCT>GAT	p.A98D		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	98						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGAAATGTAGCTTCTAAGTCA	0.323										HNSCC(36;0.09)			A	88956701	C	A	88956701	3	1	278	1	0	0	0	0	1	0	0	0	18168	797	28	5	303	5	ZNF804B	7	88956701	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	1626880	88956701	70181962	75	142880											
ZNF804B	219578	broad.mit.edu	37	chr7	88965059	88965059	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgcagaaggagagaggacCcctctaacagcaaaaatcct	9	11	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:88965059C>A	uc011khi.1	+	4	3301	c.2763C>A	c.(2761-2763)ACC>ACA	p.T921T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	921						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGAGAGGACCCCTCTAACAG	0.408										HNSCC(36;0.09)			A	88965059	C	A	88965059	2	1	278	1	0	0	0	0	0	0	0	1	18168	610	22	5		5	ZNF804B	7	88965059	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	8358	88965059	70173604	76	142881											
SAMD9L	219285	broad.mit.edu	37	chr7	92761613	92761613	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattgcaccatatgttttttGgataattcattttctttgtg	6	5	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:92761613G>T	uc003umh.1	-	5	4888	c.3672C>A	c.(3670-3672)TCC>TCA	p.S1224S	SAMD9L_uc003umj.1_Silent_p.S1224S|SAMD9L_uc003umi.1_Silent_p.S1224S|SAMD9L_uc010lfb.1_Silent_p.S1224S|SAMD9L_uc003umk.1_Silent_p.S1224S|SAMD9L_uc010lfc.1_Silent_p.S1224S|SAMD9L_uc010lfd.1_Silent_p.S1224S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1224										ovary(4)	4	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)			TATGTTTTTTGGATAATTCAT	0.373													T	92761613	G	T	92761613	2	4	278	1	0	0	0	0	0	0	0	1	13827	1335	47	5		5	SAMD9L	7	92761613	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	3796554	92761613	66377050	77	142882											
BET1	10282	broad.mit.edu	37	chr7	93623678	93623678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttacctagaaatccagttGtggaatcaaattgtgaatcc	7	7	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:93623678G>T	uc003unf.1	-	4	383	c.221C>A	c.(220-222)ACA>AAA	p.T74K	BET1_uc003une.3_RNA	NM_005868	NP_005859	O15155	BET1_HUMAN	blocked early in transport 1	74	Cytoplasmic (Potential).|t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding				0	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			AAATCCAGTTGTGGAATCAAA	0.343													T	93623678	G	T	93623678	3	4	278	1	0	0	0	0	1	0	0	0	1408	1377	48	5	139	5	BET1	7	93623678	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	862065	93623678	65514985	78	142883											
ZAN	7455	broad.mit.edu	37	chr7	100364791	100364791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccaccaacgagaaccgcGgggggatcctggaggtctcc	15	14	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:100364791G>A	uc003uwj.2	+	25	4936	c.4771G>A	c.(4771-4773)GGG>AGG	p.G1591R	ZAN_uc003uwk.2_Missense_Mutation_p.G1591R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.G168R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1591	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGAGAACCGCGGGGGGATCCT	0.572													A	100364791	G	A	100364791	3	1	278	1	0	0	0	0	1	0	0	0	17510	1116	39	1	4865	1	ZAN	7	100364791	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	6741113	100364791	58773872	79	142884											
CADPS2	93664	broad.mit.edu	37	chr7	122028700	122028700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttgctctaagtggtggGcaaattcctgttctggccag	12	9	3	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:122028700G>A	uc010lkp.2	-	22	3264	c.3101C>T	c.(3100-3102)GCC>GTC	p.A1034V	CADPS2_uc011knx.1_Missense_Mutation_p.A409V|CADPS2_uc003vkg.3_Missense_Mutation_p.A688V|CADPS2_uc010lkq.2_Missense_Mutation_p.A988V	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1034	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TAAGTGGTGGGCAAATTCCTG	0.423													A	122028700	G	A	122028700	3	1	278	1	0	0	0	0	1	0	0	0	2571	1203	42	2	840	2	CADPS2	7	122028700	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	21663909	122028700	37109963	80	142885											
TRYX3	136541	broad.mit.edu	37	chr7	141955044	141955044	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgagaagtgtggatgAtgaatcatcttctcatagcc	11	7	3	4			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:141955044A>T	uc003vxb.2	-	3	587	c.267T>A	c.(265-267)CAT>CAA	p.H89Q	TRYX3_uc003vxc.3_Missense_Mutation_p.H89Q	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3 precursor	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)					AGTGTGGATGATGAATCATCT	0.408													T	141955044	A	T	141955044	3	4	278	1	0	0	0	0	1	0	0	0	16601	330	12	5	470	5	TRYX3	7	141955044	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	19926344	141955044	17183619	81	142886											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997356	146997356	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatagtccccttcaagttaAaactggcgagaagtactttt	7	8	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:146997356A>C	uc003weu.1	+	9	1988	c.1472A>C	c.(1471-1473)AAA>ACA	p.K491T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	491	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			CTTCAAGTTAAAACTGGCGAG	0.388										HNSCC(39;0.1)			C	146997356	A	C	146997356	3	2	278	1	0	0	0	0	1	0	0	0	3647	14	1	5	1506	5	CNTNAP2	7	146997356	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	5042312	146997356	12141307	82	142887											
C7orf29	113763	broad.mit.edu	37	chr7	150027913	150027913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagggtagccaagagctcCggggtggaggggagaagcca	18	9	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr7:150027913C>T	uc003wgy.2	+	1	976	c.420C>T	c.(418-420)TCC>TCT	p.S140S	LRRC61_uc003wgv.2_Intron|LRRC61_uc003wgx.2_Intron|LRRC61_uc003wgw.2_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	hypothetical protein LOC113763	140										ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCAAGAGCTCCGGGGTGGAGG	0.622													T	150027913	C	T	150027913	2	4	278	1	0	0	0	0	0	0	0	1	2385	639	23	1		1	C7orf29	7	150027913	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	3030557	150027913	9110750	83	142888											
REEP4	80346	broad.mit.edu	37	chr8	21996454	21996454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaatgggtggcctccGgtgggacacctggtcctcca	12	15	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:21996454G>A	uc003xau.1	-	6	991	c.538C>T	c.(538-540)CGG>TGG	p.R180W	REEP4_uc010ltt.1_Intron	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	180						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGTGGCCTCCGGTGGGACACC	0.652													A	21996454	G	A	21996454	3	1	278	1	0	0	0	0	1	0	0	0	13207	1115	39	1	247	1	REEP4	8	21996454	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		21996454	124367568	84	142889											
LEPROTL1	23484	broad.mit.edu	37	chr8	29963316	29963316	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacagtcatctttgcaActatactaggctttttcttg	6	9	3	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:29963316A>T	uc003xhw.3	+	4	441	c.334A>T	c.(334-336)ACT>TCT	p.T112S	LEPROTL1_uc003xhx.2_Intron	NM_015344	NP_056159	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	112	Helical; (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CATCTTTGCAACTATACTAGG	0.413													T	29963316	A	T	29963316	3	4	278	1	0	0	0	0	1	0	0	0	8733	43	2	5	348	5	LEPROTL1	8	29963316	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	7966862	29963316	116400706	85	142890											
FGFR1	2260	broad.mit.edu	37	chr8	38271510	38271510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggtctctgtgagggcaCtgcatgccagcagtcccgca	15	12	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:38271510C>T	uc003xlp.2	-	18	3160	c.2218G>A	c.(2218-2220)GTG>ATG	p.V740M	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.V738M|FGFR1_uc011lbp.1_Missense_Mutation_p.V651M|FGFR1_uc011lbq.1_Missense_Mutation_p.V649M|FGFR1_uc010lwk.2_Missense_Mutation_p.V730M	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	740	Cytoplasmic (Potential).|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			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	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)	TGTGAGGGCACTGCATGCCAG	0.607		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						T	38271510	C	T	38271510	3	4	278	1	0	0	0	0	1	0	0	0	5863	565	20	4	258	4	FGFR1	8	38271510	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	8308194	38271510	108092512	86	142891											
POTEA	340441	broad.mit.edu	37	chr8	43155718	43155718	+	Frame_Shift_Del	DEL	T	T	-													aaaaacagcgaatggtgaaaTttttaatcaagaaaaaagct							TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:43155717_43155717AT>A	uc003xpz.1	+	3	688	c.645_645AT>A	c.(643-645)aaafs	p.K215fs	POTEA_uc003xqa.1_Frame_Shift_Del_p.K215fs	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	215								p.K215N(2)		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						GAATGGTGAAATTTTTAATCA	0.318													-	43155718	T	-	43155718	7	5	278	1	0	1	0	1	0	0	0	0	12261	1493	52	0	660	0	POTEA	8	43155718	Frame_Shift_Del	DEL	T	TCGA-HU-A4H2-01A-11D-A25D-08	4884208	43155718	103208304	87	142892											
TRPA1	8989	broad.mit.edu	37	chr8	72966069	72966069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgtacccgcccatggaCgcatgatgcaaagctgtcca	11	12	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:72966069C>T	uc003xza.2	-	13	1738	c.1563G>A	c.(1561-1563)GCG>GCA	p.A521A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	521	ANK 13.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	CGCCCATGGACGCATGATGCA	0.478													T	72966069	C	T	72966069	2	4	278	1	0	0	0	0	0	0	0	1	16574	523	19	1		1	TRPA1	8	72966069	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	29810351	72966069	73397953	88	142893											
GDF6	392255	broad.mit.edu	37	chr8	97157137	97157137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgccgcttgccatggCgactggcgaaggccgtgcgc	16	14	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:97157137C>T	uc003yhp.2	-	2	1122	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	341					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			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CTTGCCATGGCGACTGGCGAA	0.433													T	97157137	C	T	97157137	3	4	278	1	0	0	0	0	1	0	0	0	6317	768	27	1	349	1	GDF6	8	97157137	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	24191068	97157137	49206885	89	142894											
LRP12	29967	broad.mit.edu	37	chr8	105509670	105509670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacagaacccatctacTtggtaagtagcattaaatcc	7	10	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:105509670T>G	uc003yma.2	-	5	1205	c.1110A>C	c.(1108-1110)CAA>CAC	p.Q370H	LRP12_uc003ymb.2_Missense_Mutation_p.Q351H|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	370	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCCATCTACTTGGTAAGTAG	0.448													G	105509670	T	G	105509670	3	3	278	1	0	0	0	0	1	0	0	0	8954	1606	56	5	1481	5	LRP12	8	105509670	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	8352533	105509670	40854352	90	142895											
SYBU	55638	broad.mit.edu	37	chr8	110587148	110587148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctatttaggttttgataCggaaggcggtgcggcggagc	15	7	1	1	rs74885615	byFrequency	TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:110587148C>T	uc003ynj.3	-	7	2142	c.1979G>A	c.(1978-1980)CGT>CAT	p.R660H	SYBU_uc003yni.3_Missense_Mutation_p.R657H|SYBU_uc003ynk.3_Missense_Mutation_p.R541H|SYBU_uc010mco.2_Missense_Mutation_p.R659H|SYBU_uc003ynl.3_Missense_Mutation_p.R659H|SYBU_uc010mcp.2_Missense_Mutation_p.R660H|SYBU_uc010mcq.2_Missense_Mutation_p.R660H|SYBU_uc003yno.3_Missense_Mutation_p.R541H|SYBU_uc010mcr.2_Missense_Mutation_p.R660H|SYBU_uc003ynm.3_Missense_Mutation_p.R659H|SYBU_uc003ynn.3_Missense_Mutation_p.R659H|SYBU_uc010mcs.2_Missense_Mutation_p.R541H|SYBU_uc010mct.2_Missense_Mutation_p.R660H|SYBU_uc010mcu.2_Missense_Mutation_p.R659H|SYBU_uc003ynp.3_Missense_Mutation_p.R592H|SYBU_uc010mcv.2_Missense_Mutation_p.R660H|SYBU_uc003ynh.3_Missense_Mutation_p.R454H|SYBU_uc011lhw.1_Missense_Mutation_p.R530H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	660						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.R657H(1)		ovary(1)	1						GGTTTTGATACGGAAGGCGGT	0.527													T	110587148	C	T	110587148	3	4	278	1	0	0	0	0	1	0	0	0	15424	536	19	1	16	1	SYBU	8	110587148	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	5077478	110587148	35776874	91	142896											
CSMD3	114788	broad.mit.edu	37	chr8	113293418	113293418	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgtacagttaggtaAagttccagaccatgttccat	7	9	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:113293418A>T	uc003ynu.2	-	59	9652	c.9493T>A	c.(9493-9495)TTA>ATA	p.L3165I	CSMD3_uc003yns.2_Missense_Mutation_p.L2367I|CSMD3_uc003ynt.2_Missense_Mutation_p.L3125I|CSMD3_uc011lhx.1_Missense_Mutation_p.L2996I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3165	Extracellular (Potential).|Sushi 23.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CAGTTAGGTAAAGTTCCAGAC	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113293418	A	T	113293418	3	4	278	1	0	0	0	0	1	0	0	0	3946	11	1	5	1682	5	CSMD3	8	113293418	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	2706270	113293418	33070604	92	142897											
CSMD3	114788	broad.mit.edu	37	chr8	113649169	113649169	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgtcaccaatcccaaAgttgaacccgattcgactac	7	13	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:113649169A>C	uc003ynu.2	-	22	3751	c.3592T>G	c.(3592-3594)TTT>GTT	p.F1198V	CSMD3_uc003yns.2_Missense_Mutation_p.F470V|CSMD3_uc003ynt.2_Missense_Mutation_p.F1158V|CSMD3_uc011lhx.1_Missense_Mutation_p.F1094V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1198	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCAATCCCAAAGTTGAACCCG	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113649169	A	C	113649169	3	2	278	1	0	0	0	0	1	0	0	0	3946	72	3	5	7731	5	CSMD3	8	113649169	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	355751	113649169	32714853	93	142898											
ADCY8	114	broad.mit.edu	37	chr8	132002740	132002740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgacaggtaactgatgaAgattccagctgtgttcatac	10	8	2	4			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:132002740A>G	uc003ytd.3	-	2	1265	c.1009T>C	c.(1009-1011)TTC>CTC	p.F337L	ADCY8_uc010mds.2_Missense_Mutation_p.F337L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	337	Helical; (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAACTGATGAAGATTCCAGCT	0.512										HNSCC(32;0.087)			G	132002740	A	G	132002740	3	3	278	1	0	0	0	0	1	0	0	0	300	72	3	3	2814	3	ADCY8	8	132002740	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	18353571	132002740	14361282	94	142899											
PTK2	5747	broad.mit.edu	37	chr8	141711019	141711019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctctttttccagccagcGctgatcttcttccatttcct	4	15	3	1	rs150410292	byFrequency	TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr8:141711019G>A	uc003yvu.2	-	26	2700	c.2470C>T	c.(2470-2472)CGC>TGC	p.R824C	PTK2_uc011ljp.1_Missense_Mutation_p.R132C|PTK2_uc003yvo.2_Missense_Mutation_p.R452C|PTK2_uc011ljq.1_Missense_Mutation_p.R519C|PTK2_uc003yvp.2_Missense_Mutation_p.R492C|PTK2_uc003yvq.2_Missense_Mutation_p.R350C|PTK2_uc003yvr.2_Missense_Mutation_p.R764C|PTK2_uc003yvs.2_Missense_Mutation_p.R778C|PTK2_uc003yvt.2_Missense_Mutation_p.R846C|PTK2_uc003yvv.2_Missense_Mutation_p.R724C|PTK2_uc011ljr.1_Missense_Mutation_p.R824C	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	824	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	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)			TCCAGCCAGCGCTGATCTTCT	0.433													A	141711019	G	A	141711019	3	1	278	1	0	0	0	0	1	0	0	0	12762	1087	38	1	716	1	PTK2	8	141711019	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	9708279	141711019	4653003	95	142900											
KIAA1797	54914	broad.mit.edu	37	chr9	20988425	20988425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacaatacggctcttgaCaaggtaaaatctagaggagt	9	7	3	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:20988425C>T	uc003zog.1	+	43	5364	c.5001C>T	c.(4999-5001)GAC>GAT	p.D1667D	KIAA1797_uc003zoh.1_Silent_p.D1103D	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1667						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CGGCTCTTGACAAGGTAAAAT	0.284													T	20988425	C	T	20988425	2	4	278	1	0	0	0	0	0	0	0	1	8258	477	17	4		4	KIAA1797	9	20988425	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		20988425	120225006	96	142901											
TRPM6	140803	broad.mit.edu	37	chr9	77411801	77411801	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggtaaaataatgctTataataatctgtaaaagaaa	9	2	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:77411801T>A	uc004ajl.1	-	18	2485	c.2247A>T	c.(2245-2247)ATA>ATT	p.I749I	TRPM6_uc004ajk.1_Silent_p.I744I|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Silent_p.I127I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	749	Helical; (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AAATAATGCTTATAATAATCT	0.318													A	77411801	T	A	77411801	2	1	278	1	0	0	0	0	0	0	0	1	16587	1744	61	5		5	TRPM6	9	77411801	Silent	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	56423376	77411801	63801630	97	142902											
TRPM6	140803	broad.mit.edu	37	chr9	77427319	77427319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccgatccatcactaaagCatctgacattgcttgttcca	5	14	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:77427319C>A	uc004ajl.1	-	12	1577	c.1339G>T	c.(1339-1341)GCT>TCT	p.A447S	TRPM6_uc004ajk.1_Missense_Mutation_p.A442S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.A447S|TRPM6_uc010mpd.1_Missense_Mutation_p.A447S|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	447	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						ATCACTAAAGCATCTGACATT	0.378													A	77427319	C	A	77427319	3	1	278	1	0	0	0	0	1	0	0	0	16587	710	25	5	4841	5	TRPM6	9	77427319	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	15518	77427319	63786112	98	142903											
SVEP1	79987	broad.mit.edu	37	chr9	113196685	113196685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagggttcccgaccaGctggaagcctggatcacaga	12	13	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:113196685G>T	uc010mtz.2	-	30	5327	c.4990C>A	c.(4990-4992)CTG>ATG	p.L1664M		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1664	Sushi 5.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TTCCCGACCAGCTGGAAGCCT	0.502													T	113196685	G	T	113196685	3	4	278	1	0	0	0	0	1	0	0	0	15417	962	34	5	5801	5	SVEP1	9	113196685	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	35769366	113196685	28016746	99	142904											
SLC46A2	57864	broad.mit.edu	37	chr9	115652545	115652545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagcccgttcagcgccgcCgccccgtacagcacctccac	8	20	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:115652545C>T	uc004bgk.2	-	1	649	c.417G>A	c.(415-417)GCG>GCA	p.A139A		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	139	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						TCAGCGCCGCCGCCCCGTACA	0.692													T	115652545	C	T	115652545	2	4	278	1	0	0	0	0	0	0	0	1	14645	639	23	1		1	SLC46A2	9	115652545	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	2455860	115652545	25560886	100	142905											
ASTN2	23245	broad.mit.edu	37	chr9	120176865	120176865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcacaaagagcaggaggcGcgactcggcggcggtgccgg	18	12	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr9:120176865G>T	uc004bjs.1	-	1	453	c.352C>A	c.(352-354)CGC>AGC	p.R118S	ASTN2_uc004bjr.1_Missense_Mutation_p.R118S|ASTN2_uc004bjt.1_Missense_Mutation_p.R118S	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	118	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						AGCAGGAGGCGCGACTCGGCG	0.562													T	120176865	G	T	120176865	3	4	278	1	0	0	0	0	1	0	0	0	1065	1087	38	5	3834	5	ASTN2	9	120176865	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	4524320	120176865	21036566	101	142906											
CUBN	8029	broad.mit.edu	37	chr10	17061967	17061967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtagcgtcccatctgccGtggtccatcatagagctgaa	10	12	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:17061967G>A	uc001ioo.2	-	28	4085	c.4033C>T	c.(4033-4035)CGG>TGG	p.R1345W		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1345	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCATCTGCCGTGGTCCATCA	0.493													A	17061967	G	A	17061967	3	1	278	1	0	0	0	0	1	0	0	0	4051	1144	40	1	6998	1	CUBN	10	17061967	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		17061967	118472780	102	142907											
PLXDC2	84898	broad.mit.edu	37	chr10	20568723	20568723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accagttggagagaaagaagGctttattgtatcagagcagt	12	5	1	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:20568723G>T	uc001iqg.1	+	14	2202	c.1565G>T	c.(1564-1566)GGC>GTC	p.G522V	PLXDC2_uc001iqh.1_Missense_Mutation_p.G473V|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	522	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						GAGAAAGAAGGCTTTATTGTA	0.423													T	20568723	G	T	20568723	3	4	278	1	0	0	0	0	1	0	0	0	12118	1203	42	5	1619	5	PLXDC2	10	20568723	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	3506756	20568723	114966024	103	142908											
CTNNA3	29119	broad.mit.edu	37	chr10	69366644	69366644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttcctcaagtgaagccGtaagctcatcctttaaaact	6	11	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:69366644G>A	uc009xpn.1	-	3	386	c.263C>T	c.(262-264)ACG>ATG	p.T88M	CTNNA3_uc001jmw.2_Missense_Mutation_p.T88M|CTNNA3_uc001jmx.3_Missense_Mutation_p.T88M|CTNNA3_uc009xpo.1_Missense_Mutation_p.R4W|CTNNA3_uc001jna.2_Missense_Mutation_p.T100M	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	88	Potential.				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						AAGTGAAGCCGTAAGCTCATC	0.438													A	69366644	G	A	69366644	3	1	278	1	0	0	0	0	1	0	0	0	4014	1145	40	1	2488	1	CTNNA3	10	69366644	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	48797921	69366644	66168103	104	142909											
UNC5B	219699	broad.mit.edu	37	chr10	73050696	73050696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcctcaggggatgcggCgctgtatgcggggctcgtgg	21	9	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:73050696C>T	uc001jro.2	+	9	1569	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	UNC5B_uc001jrp.2_Missense_Mutation_p.A364V	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	375	Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GGGGATGCGGCGCTGTATGCG	0.662													T	73050696	C	T	73050696	3	4	278	1	0	0	0	0	1	0	0	0	16989	768	27	1	1158	1	UNC5B	10	73050696	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	3684052	73050696	62484051	105	142910											
UNC5B	219699	broad.mit.edu	37	chr10	73055697	73055697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcccattggaggagcAagctgctggccaaataccag	11	13	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:73055697A>G	uc001jro.2	+	14	2750	c.2305A>G	c.(2305-2307)AAG>GAG	p.K769E	UNC5B_uc001jrp.2_Missense_Mutation_p.K758E	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	769	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TTGGAGGAGCAAGCTGCTGGC	0.627													G	73055697	A	G	73055697	3	3	278	1	0	0	0	0	1	0	0	0	16989	131	5	3	2359	3	UNC5B	10	73055697	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	5001	73055697	62479050	106	142911											
MAT1A	4143	broad.mit.edu	37	chr10	82045320	82045320	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatgggcatccagcactgcAtcactgatctggtcacagat	10	11	3	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:82045320A>T	uc001kbw.2	-	2	372	c.117T>A	c.(115-117)GAT>GAA	p.D39E		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	39					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CCAGCACTGCATCACTGATCT	0.448													T	82045320	A	T	82045320	3	4	278	1	0	0	0	0	1	0	0	0	9329	214	8	5	1102	5	MAT1A	10	82045320	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	8989623	82045320	53489427	107	142912											
CDHR1	92211	broad.mit.edu	37	chr10	85968016	85968016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacctcaacaaccacccGccaacattctatggagagag	9	13	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:85968016G>A	uc001kcv.2	+	11	1050	c.1050G>A	c.(1048-1050)CCG>CCA	p.P350P	CDHR1_uc001kcw.2_Silent_p.P350P|CDHR1_uc009xst.2_Silent_p.P109P	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	350	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						ACAACCACCCGCCAACATTCT	0.602													A	85968016	G	A	85968016	2	1	278	1	0	0	0	0	0	0	0	1	3118	1074	38	1		1	CDHR1	10	85968016	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	3922696	85968016	49566731	108	142913											
NOLC1	9221	broad.mit.edu	37	chr10	103919017	103919017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagcagcagcagcagcagTagcagtgatgactcagagga	14	8	1	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:103919017T>C	uc001kuo.2	+	6	910	c.675T>C	c.(673-675)AGT>AGC	p.S225S	NOLC1_uc001kup.2_Silent_p.S225S|NOLC1_uc001kuq.2_Silent_p.S226S|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	225	11 X 12 AA approximate repeats of an acidic serine cluster.|Acidic serine cluster 4.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		gcagcagcagtagcagTGATG	0.398													C	103919017	T	C	103919017	2	2	278	1	0	0	0	0	0	0	0	1	10529	1635	57	3		3	NOLC1	10	103919017	Silent	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	17951001	103919017	31615730	109	142914											
SORCS3	22986	broad.mit.edu	37	chr10	106918738	106918738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggagacagccccaggacTtgtggtggctacaggtaaga	14	9	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr10:106918738T>C	uc001kyi.1	+	11	1945	c.1718T>C	c.(1717-1719)CTT>CCT	p.L573P		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	573	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		GCCCCAGGACTTGTGGTGGCT	0.378													C	106918738	T	C	106918738	3	2	278	1	0	0	0	0	1	0	0	0	14932	1609	56	3	1760	3	SORCS3	10	106918738	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	2999721	106918738	28616009	110	142915											
OR52J3	119679	broad.mit.edu	37	chr11	5068262	5068262	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcttatctaccgcctaccCttttgtcaggctcacataat	4	13	4	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:5068262C>A	uc010qyv.1	+	1	507	c.507C>A	c.(505-507)CCC>CCA	p.P169P		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		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)		ACCGCCTACCCTTTTGTCAGG	0.443													A	5068262	C	A	5068262	2	1	278	1	0	0	0	0	0	0	0	1	11122	668	24	5		5	OR52J3	11	5068262	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		5068262	129938254	111	142916											
DCHS1	8642	broad.mit.edu	37	chr11	6653349	6653349	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattgggtcctgagtctcGgtcagtggcaaagactcggc	13	11	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:6653349G>A	uc001mem.1	-	6	3804	c.3394C>T	c.(3394-3396)CGA>TGA	p.R1132*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1132	Cadherin 11.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGAGTCTCGGTCAGTGGCA	0.602													A	6653349	G	A	6653349	4	1	278	1	0	0	0	0	0	1	0	0	4287	1124	39	1	6566	1	DCHS1	11	6653349	Nonsense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	1585087	6653349	128353167	112	142917											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077106	19077106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcctaaaagagcccaCgaagaagtaaatgatggggt	11	8	0	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:19077106C>T	uc001mph.2	-	2	932	c.844G>A	c.(844-846)GTG>ATG	p.V282M		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	282	Helical; Name=7; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						AAAGAGCCCACGAAGAAGTAA	0.498													T	19077106	C	T	19077106	3	4	278	1	0	0	0	0	1	0	0	0	9767	536	19	1	152	1	MRGPRX2	11	19077106	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	12423757	19077106	115929410	113	142918											
DCDC1	341019	broad.mit.edu	37	chr11	31349783	31349783	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagagggataaggaagaCtgagatagtgcttctctgtg	14	5	2	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:31349783C>G	uc001msv.2	-	3	247	c.45G>C	c.(43-45)CAG>CAC	p.Q15H	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	15					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					ATAAGGAAGACTGAGATAGTG	0.348													G	31349783	C	G	31349783	3	3	278	1	0	0	0	0	1	0	0	0	4284	564	20	5	1047	5	DCDC1	11	31349783	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	12272677	31349783	103656733	114	142919											
PDHX	8050	broad.mit.edu	37	chr11	34991726	34991726	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcaatattcgaagagTtattgccaagagattaactg	9	8	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:34991726T>A	uc001mvt.2	+	7	1383	c.857T>A	c.(856-858)GTT>GAT	p.V286D	PDHX_uc010rep.1_Missense_Mutation_p.V271D|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	286					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			ATTCGAAGAGTTATTGCCAAG	0.398													A	34991726	T	A	34991726	3	1	278	1	0	0	0	0	1	0	0	0	11667	1725	60	5	1002	5	PDHX	11	34991726	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	3641943	34991726	100014790	115	142920											
RAG2	5897	broad.mit.edu	37	chr11	36615566	36615566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtttgacatggttatgCtttacatccagatggaaaac	8	7	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:36615566C>T	uc001mwv.3	-	2	341	c.153G>A	c.(151-153)AAG>AAA	p.K51K	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	51					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			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				CATGGTTATGCTTTACATCCA	0.458									Familial_Hemophagocytic_Lymphohistiocytosis				T	36615566	C	T	36615566	2	4	278	1	0	0	0	0	0	0	0	1	13005	796	28	2		2	RAG2	11	36615566	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	1623840	36615566	98390950	116	142921											
LRP4	4038	broad.mit.edu	37	chr11	46911003	46911003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcttgcggaagccagtgGggcaggcacaggtgtagttc	16	8	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:46911003G>A	uc001ndn.3	-	16	2320	c.2174C>T	c.(2173-2175)CCC>CTC	p.P725L		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	725	Extracellular (Potential).|EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GAAGCCAGTGGGGCAGGCACA	0.607											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46911003	G	A	46911003	3	1	278	1	0	0	0	0	1	0	0	0	8959	1232	43	4	3635	4	LRP4	11	46911003	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	10295437	46911003	88095513	117	142922											
OR4A16	81327	broad.mit.edu	37	chr11	55110693	55110693	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatgagaccaagcagcaAtgttacagaatttgtcctcc	8	9	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:55110693A>T	uc010rie.1	+	1	17	c.17A>T	c.(16-18)AAT>ATT	p.N6I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						CCAAGCAGCAATGTTACAGAA	0.363													T	55110693	A	T	55110693	3	4	278	1	0	0	0	0	1	0	0	0	11041	101	4	5	19	5	OR4A16	11	55110693	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	8199690	55110693	79895823	118	142923											
OR5AN1	390195	broad.mit.edu	37	chr11	59132682	59132682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctaacagctgtttccCtcttctatacatcaggaatc	4	13	5	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:59132682C>T	uc010rks.1	+	1	751	c.751C>T	c.(751-753)CTC>TTC	p.L251F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGCTGTTTCCCTCTTCTATAC	0.428													T	59132682	C	T	59132682	3	4	278	1	0	0	0	0	1	0	0	0	11143	681	24	4	753	4	OR5AN1	11	59132682	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	4021989	59132682	75873834	119	142924											
NPAS4	266743	broad.mit.edu	37	chr11	66188802	66188802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcctgcatctacactcGcaagggcgtcttcttcgctg	9	16	3	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:66188802G>A	uc001ohx.1	+	1	328	c.152G>A	c.(151-153)CGC>CAC	p.R51H	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	51	Helix-loop-helix motif.				transcription, DNA-dependent		DNA binding|signal transducer activity				0						ATCTACACTCGCAAGGGCGTC	0.657													A	66188802	G	A	66188802	3	1	278	1	0	0	0	0	1	0	0	0	10565	1087	38	1	154	1	NPAS4	11	66188802	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	7056120	66188802	68817714	120	142925											
LRP5	4041	broad.mit.edu	37	chr11	68216312	68216312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatggcgcccccgacgaCgccctgcagcaccgacgtgt	13	16	0	0	rs150862227		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:68216312C>T	uc001ont.2	+	23	4697	c.4622C>T	c.(4621-4623)ACG>ATG	p.T1541M	LRP5_uc009ysg.2_Missense_Mutation_p.T951M	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1541	PPPSP motif B.|Cytoplasmic (Potential).|Pro-rich.				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCCCGACGACGCCCTGCAGC	0.612													T	68216312	C	T	68216312	3	4	278	1	0	0	0	0	1	0	0	0	8960	536	19	1	4712	1	LRP5	11	68216312	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	2027510	68216312	66790204	121	142926											
B3GNT6	192134	broad.mit.edu	37	chr11	76751504	76751504	+	Frame_Shift_Del	DEL	G	G	-													gcggccgcccgccacaccccGctcttccccatcgacgacgc							TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:76751504delG	uc001oxw.2	+	2	997	c.909delG	c.(907-909)CCGfs	p.P303fs		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	303	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						gccACACCCCGCTCTTCCCCA	0.562													-	76751504	G	-	76751504	7	5	278	1	0	1	0	1	0	0	0	0	1261	1074	38	0	911	0	B3GNT6	11	76751504	Frame_Shift_Del	DEL	G	TCGA-HU-A4H2-01A-11D-A25D-08	8535192	76751504	58255012	122	142927											
FOLH1B	219595	broad.mit.edu	37	chr11	89431659	89431659	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgctctgtttgatatTgaaagcaaagtggacccttc	9	7	1	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:89431659T>G	uc001pda.2	+	14	1747	c.1221T>G	c.(1219-1221)ATT>ATG	p.I407M		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	407					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TGTTTGATATTGAAAGCAAAG	0.468													G	89431659	T	G	89431659	3	3	278	1	0	0	0	0	1	0	0	0	5980	1800	63	5	1267	5	FOLH1B	11	89431659	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	12680155	89431659	45574857	123	142928											
ATM	472	broad.mit.edu	37	chr11	108175539	108175539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtcttcgacacttctcGcaaacgagccgatccacaac	7	15	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:108175539G>A	uc001pkb.1	+	37	6019	c.5634G>A	c.(5632-5634)TCG>TCA	p.S1878S	ATM_uc009yxr.1_Silent_p.S1878S|ATM_uc001pke.1_Silent_p.S530S|ATM_uc001pkg.1_Silent_p.S235S|ATM_uc009yxt.1_Missense_Mutation_p.A22T	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1878					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			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		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)		GACACTTCTCGCAAACGAGCC	0.363			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)			A	108175539	G	A	108175539	2	1	278	1	0	0	0	0	0	0	0	1	1109	1074	38	1		1	ATM	11	108175539	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	18743880	108175539	26830977	124	142929											
ZBTB16	7704	broad.mit.edu	37	chr11	114118040	114118040	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaatggctgtggcaagaAgttcagcctcaagcatcagc	12	10	3	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:114118040A>C	uc001pop.2	+	6	2009	c.1745A>C	c.(1744-1746)AAG>ACG	p.K582T	ZBTB16_uc001poq.2_Missense_Mutation_p.K582T	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	582	C2H2-type 7.				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)|skin(1)	2		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)		TGTGGCAAGAAGTTCAGCCTC	0.597													C	114118040	A	C	114118040	3	2	278	1	0	0	0	0	1	0	0	0	17523	72	3	5	1763	5	ZBTB16	11	114118040	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	5942501	114118040	20888476	125	142930											
C11orf63	79864	broad.mit.edu	37	chr11	122817312	122817312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtgcagctgaccgacGtgcagcccagtgaaggggcc	15	13	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr11:122817312G>A	uc001pym.2	+	6	2038	c.1741G>A	c.(1741-1743)GTG>ATG	p.V581M		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	581										ovary(3)	3		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)		GCTGACCGACGTGCAGCCCAG	0.517													A	122817312	G	A	122817312	3	1	278	1	0	0	0	0	1	0	0	0	1654	1145	40	1	1823	1	C11orf63	11	122817312	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	8699272	122817312	12189204	126	142931											
B4GALNT3	283358	broad.mit.edu	37	chr12	653598	653598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttcccactgtaccccCatgtgagtgcctgagggctg	11	13	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:653598C>A	uc001qii.1	+	4	445	c.445C>A	c.(445-447)CAT>AAT	p.H149N	B4GALNT3_uc001qij.1_Missense_Mutation_p.H51N	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	149	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	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)			ACTGTACCCCCATGTGAGTGC	0.567													A	653598	C	A	653598	3	1	278	1	0	0	0	0	1	0	0	0	1268	594	21	5	459	5	B4GALNT3	12	653598	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		653598	133198297	127	142932											
TAS2R42	353164	broad.mit.edu	37	chr12	11338850	11338850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacatcaccattttcatggCcctcctatgggcctctgtgc	8	14	3	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:11338850C>T	uc001qzr.1	-	1	694	c.694G>A	c.(694-696)GCC>ACC	p.A232T	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	232	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ATTTTCATGGCCCTCCTATGG	0.403													T	11338850	C	T	11338850	3	4	278	1	0	0	0	0	1	0	0	0	15577	739	26	2	254	2	TAS2R42	12	11338850	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	10685252	11338850	122513045	128	142933											
SLCO1B1	10599	broad.mit.edu	37	chr12	21325668	21325668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccatcattcatatagaaCggagatttgagatatcctct	7	8	3	3	rs139257324		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:21325668C>T	uc001req.3	+	3	273	c.169C>T	c.(169-171)CGG>TGG	p.R57W		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	57	Extracellular (Potential).				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			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCATATAGAACGGAGATTTGA	0.323													T	21325668	C	T	21325668	3	4	278	1	0	0	0	0	1	0	0	0	14723	527	19	1	175	1	SLCO1B1	12	21325668	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	9986818	21325668	112526227	129	142934											
CD63	967	broad.mit.edu	37	chr12	56120536	56120536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttgtttttcgggtaaTtctccatctgctgccggaag	12	8	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:56120536T>C	uc001shm.2	-	4	470	c.374A>G	c.(373-375)AAT>AGT	p.N125S	CD63_uc009znz.2_Missense_Mutation_p.N102S|CD63_uc001shn.2_Missense_Mutation_p.N125S|CD63_uc001sho.2_Missense_Mutation_p.N125S|CD63_uc001shp.2_Missense_Mutation_p.N125S	NM_001780	NP_001771	P08962	CD63_HUMAN	CD63 antigen isoform A	125	Extracellular (Potential).				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane					0						TTTCGGGTAATTCTCCATCTG	0.517													C	56120536	T	C	56120536	3	2	278	1	0	0	0	0	1	0	0	0	3029	1493	52	3	358	3	CD63	12	56120536	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	34794868	56120536	77731359	130	142935											
LRP1	4035	broad.mit.edu	37	chr12	57579489	57579489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattctcaagagtatccaCctgtcggatgagcgcaacct	8	13	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:57579489C>T	uc001snd.2	+	41	7105	c.6639C>T	c.(6637-6639)CAC>CAT	p.H2213H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2213	Extracellular (Potential).				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			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAGTATCCACCTGTCGGATG	0.617													T	57579489	C	T	57579489	2	4	278	1	0	0	0	0	0	0	0	1	8951	506	18	4		4	LRP1	12	57579489	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	1458953	57579489	76272406	131	142936											
PTPRB	5787	broad.mit.edu	37	chr12	71002847	71002847	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgcacctgtcatcctttAcctgtttgcaagaccactgt	6	12	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:71002847A>G	uc001swb.3	-	2	355	c.325_splice	c.e2+1	p.D109_splice	PTPRB_uc010sto.1_Splice_Site_p.D109_splice|PTPRB_uc010stp.1_Splice_Site_p.D109_splice|PTPRB_uc001swc.3_Splice_Site_p.D327_splice|PTPRB_uc001swa.3_Splice_Site_p.D327_splice|PTPRB_uc001swd.3_Splice_Site_p.D326_splice|PTPRB_uc009zrr.1_Splice_Site_p.D206_splice|PTPRB_uc001swe.2_Splice_Site_p.D327_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	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)			GTCATCCTTTACCTGTTTGCA	0.443													G	71002847	A	G	71002847	5	3	278	1	0	0	0	0	0	0	1	0	12796	405	14	3	5790	3	PTPRB	12	71002847	Splice_Site	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	13423358	71002847	62849048	132	142937											
RAD9B	144715	broad.mit.edu	37	chr12	110957714	110957714	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtctttcacagaaaCgaaaaaggtaagactgtgtt	9	7	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:110957714C>T	uc001trf.3	+	9	1021	c.883C>T	c.(883-885)CGA>TGA	p.R295*	RAD9B_uc001trg.3_Nonsense_Mutation_p.R295*|RAD9B_uc010sya.1_Nonsense_Mutation_p.R226*|RAD9B_uc001tre.3_Nonsense_Mutation_p.R223*|RAD9B_uc001trd.3_Nonsense_Mutation_p.R137*	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B	292					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2						TTCACAGAAACGAAAAAGGTA	0.338													T	110957714	C	T	110957714	4	4	278	1	0	0	0	0	0	1	0	0	12996	528	19	1	917	1	RAD9B	12	110957714	Nonsense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	39954867	110957714	22894181	133	142938											
SDS	10993	broad.mit.edu	37	chr12	113835138	113835138	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcccactgacagcgcgatgGcccccggcttttcccacagt	10	18	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr12:113835138G>C	uc001tvg.2	-	6	607	c.485C>G	c.(484-486)GCC>GGC	p.A162G	SDS_uc001tvh.1_Missense_Mutation_p.A162G	NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	162					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGCGCGATGGCCCCCGGCTT	0.672													C	113835138	G	C	113835138	3	2	278	1	0	0	0	0	1	0	0	0	13975	1203	42	5	513	5	SDS	12	113835138	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	2877424	113835138	20016757	134	142939											
FRY	10129	broad.mit.edu	37	chr13	32811731	32811731	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actggacagaattcaggcttGtacccaacaaggcctctcct	8	13	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:32811731G>C	uc001utx.2	+	44	6522	c.6026G>C	c.(6025-6027)TGT>TCT	p.C2009S	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		ATTCAGGCTTGTACCCAACAA	0.542													C	32811731	G	C	32811731	3	2	278	1	0	0	0	0	1	0	0	0	6063	1377	48	5	6200	5	FRY	13	32811731	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		32811731	82358147	135	142940											
DCLK1	9201	broad.mit.edu	37	chr13	36700036	36700036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctcaaaagatcggaacCggtctggggagatggcatac	15	9	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:36700036C>T	uc001uvf.2	-	2	472	c.239G>A	c.(238-240)CGG>CAG	p.R80Q		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1.				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			stomach(6)|ovary(2)|skin(1)	9		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)		AGATCGGAACCGGTCTGGGGA	0.507													T	36700036	C	T	36700036	3	4	278	1	0	0	0	0	1	0	0	0	4291	652	23	1	2018	1	DCLK1	13	36700036	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	3888305	36700036	78469842	136	142941											
SOHLH2	54937	broad.mit.edu	37	chr13	36767772	36767772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcaccagtgtttgagggaCatgttgtccagtattttacc	9	9	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:36767772C>A	uc001uvj.2	-	4	505	c.416G>T	c.(415-417)TGT>TTT	p.C139F	SOHLH2_uc010tei.1_Missense_Mutation_p.C216F	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	139					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		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)		GTTTGAGGGACATGTTGTCCA	0.323													A	36767772	C	A	36767772	3	1	278	1	0	0	0	0	1	0	0	0	14924	478	17	5	893	5	SOHLH2	13	36767772	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	67736	36767772	78402106	137	142942											
PCDH17	27253	broad.mit.edu	37	chr13	58209029	58209029	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaacgccatgaacgtcatGaacgtggtgagcagcccctc	12	12	1	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:58209029G>A	uc001vhq.1	+	1	3241	c.2349G>A	c.(2347-2349)ATG>ATA	p.M783I	PCDH17_uc010aec.1_Missense_Mutation_p.M783I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	783	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAACGTCATGAACGTGGTGA	0.587													A	58209029	G	A	58209029	3	1	278	1	0	0	0	0	1	0	0	0	11512	1290	45	4	2351	4	PCDH17	13	58209029	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	21441257	58209029	56960849	138	142943											
PCDH20	64881	broad.mit.edu	37	chr13	61985660	61985660	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attaatctctggttcttttcTtaaaagactctcaatgtaac	4	8	4	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr13:61985660T>A	uc001vid.3	-	2	2936	c.2572A>T	c.(2572-2574)AGA>TGA	p.R858*	PCDH20_uc010thj.1_Nonsense_Mutation_p.R858*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	831	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTTCTTTTCTTAAAAGACTC	0.408													A	61985660	T	A	61985660	4	1	278	1	0	0	0	0	0	1	0	0	11515	1617	56	5	287	5	PCDH20	13	61985660	Nonsense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	3776631	61985660	53184218	139	142944											
POTEG	404785	broad.mit.edu	37	chr14	19553749	19553749	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcccctgctgcaggggGagcggcaagagcaaagtggg	17	10	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:19553749G>A	uc001vuz.1	+	1	385	c.333G>A	c.(331-333)GGG>GGA	p.G111G	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	111										ovary(1)	1						GCTGCAGGGGGAGCGGCAAGA	0.597													A	19553749	G	A	19553749	2	1	278	1	0	0	0	0	0	0	0	1	12266	1161	41	4		4	POTEG	14	19553749	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		19553749	87795791	140	142945											
MYH7	4625	broad.mit.edu	37	chr14	23894051	23894051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctccagctccttgcggCgagcctcggacttctctagc	9	17	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:23894051C>T	uc001wjx.2	-	22	2712	c.2606G>A	c.(2605-2607)CGC>CAC	p.R869H		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	869	Potential.		R -> G (in CMH1).|R -> C (in CMH1).|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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCTTGCGGCGAGCCTCGGA	0.582													T	23894051	C	T	23894051	3	4	278	1	0	0	0	0	1	0	0	0	10039	768	27	1	3277	1	MYH7	14	23894051	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	4340302	23894051	83455489	141	142946											
RPL10L	140801	broad.mit.edu	37	chr14	47120431	47120431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacttcgtgaagccccacTtcttggagatatgaatcttc	7	10	2	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:47120431T>G	uc001wwg.2	-	1	598	c.509A>C	c.(508-510)AAG>ACG	p.K170T		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	170					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GAAGCCCCACTTCTTGGAGAT	0.502													G	47120431	T	G	47120431	3	3	278	1	0	0	0	0	1	0	0	0	13556	1609	56	5	139	5	RPL10L	14	47120431	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	23226380	47120431	60229109	142	142947											
C14orf49	161176	broad.mit.edu	37	chr14	95921749	95921749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgccaccagctcgtcctCggtccccgctttcgccgcag	11	18	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr14:95921749C>T	uc001yei.3	-	5	1117	c.1102G>A	c.(1102-1104)GAG>AAG	p.E368K	C14orf49_uc010avi.2_Missense_Mutation_p.E368K|C14orf49_uc001yej.1_Missense_Mutation_p.E368K	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	368	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AGCTCGTCCTCGGTCCCCGCT	0.647													T	95921749	C	T	95921749	3	4	278	1	0	0	0	0	1	0	0	0	1776	893	31	1	1877	1	C14orf49	14	95921749	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	48801318	95921749	11427791	143	142948											
ATP8B4	79895	broad.mit.edu	37	chr15	50211119	50211119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caataacaccctcctgtaacTtatcttctacagcagtggca	5	13	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:50211119T>G	uc001zxu.2	-	19	2094	c.1952A>C	c.(1951-1953)AAG>ACG	p.K651T	ATP8B4_uc010ber.2_Missense_Mutation_p.K524T|ATP8B4_uc010ufd.1_Missense_Mutation_p.K461T|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	651	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCCTGTAACTTATCTTCTAC	0.343													G	50211119	T	G	50211119	3	3	278	1	0	0	0	0	1	0	0	0	1197	1609	56	5	1666	5	ATP8B4	15	50211119	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08		50211119	52320273	144	142949											
ZNF609	23060	broad.mit.edu	37	chr15	64966687	64966687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctattctccatgcagatcTtgggagctgcaacggtgcat	10	11	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:64966687T>C	uc002ann.2	+	4	1634	c.1634T>C	c.(1633-1635)CTT>CCT	p.L545P		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	545						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CATGCAGATCTTGGGAGCTGC	0.537													C	64966687	T	C	64966687	3	2	278	1	0	0	0	0	1	0	0	0	18032	1609	56	3	1648	3	ZNF609	15	64966687	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	14755568	64966687	37564705	145	142950											
IGDCC3	9543	broad.mit.edu	37	chr15	65622985	65622985	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtaaaacagcttgaagccGccctcgtgctgggccagccg	13	14	0	1	rs141538048		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:65622985G>T	uc002aos.2	-	10	1908	c.1656C>A	c.(1654-1656)GGC>GGA	p.G552G	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	552	Extracellular (Potential).|Fibronectin type-III 2.									ovary(3)	3						GCTTGAAGCCGCCCTCGTGCT	0.667													T	65622985	G	T	65622985	2	4	278	1	0	0	0	0	0	0	0	1	7568	1074	38	5		5	IGDCC3	15	65622985	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	656298	65622985	36908407	146	142951											
FAH	2184	broad.mit.edu	37	chr15	80465483	80465483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgctgtgcccaacccgaaGcaggtaagcacattctctgc	9	13	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr15:80465483G>T	uc002bfj.2	+	10	916	c.834G>T	c.(832-834)AAG>AAT	p.K278N	FAH_uc002bfk.1_Missense_Mutation_p.K278N|FAH_uc002bfm.1_Missense_Mutation_p.K278N|FAH_uc002bfn.1_Missense_Mutation_p.K208N	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	278					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						CCAACCCGAAGCAGGTAAGCA	0.592									Tyrosinemia_type_1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	80465483	G	T	80465483	3	4	278	1	0	0	0	0	1	0	0	0	5371	962	34	5	868	5	FAH	15	80465483	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	14842498	80465483	22065909	147	142952											
PDIA2	64714	broad.mit.edu	37	chr16	334907	334907	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacgaggacgtggccaccttCttggccttggcccaggacgc	14	14	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:334907C>T	uc002cgn.1	+	9	1678	c.570C>T	c.(568-570)TTC>TTT	p.F190F	PDIA2_uc010bqt.1_Silent_p.F35F|PDIA2_uc002cgo.1_Silent_p.F190F	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	190					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			central_nervous_system(1)|skin(1)	2		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)				TGGCCACCTTCTTGGCCTTGG	0.662													T	334907	C	T	334907	2	4	278	1	0	0	0	0	0	0	0	1	11668	912	32	4		4	PDIA2	16	334907	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		334907	90019846	148	142953											
TMC7	79905	broad.mit.edu	37	chr16	19020541	19020541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctccacctgtgaacTtcctccaagaattgccaagc	5	15	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:19020541T>C	uc002dfq.2	+	2	245	c.115T>C	c.(115-117)TTC>CTC	p.F39L	TMC7_uc010vao.1_Missense_Mutation_p.F39L|TMC7_uc002dfp.2_Missense_Mutation_p.F39L|TMC7_uc010vap.1_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	39	Extracellular (Potential).					integral to membrane				skin(2)|ovary(1)	3						ACCTGTGAACTTCCTCCAAGA	0.483													C	19020541	T	C	19020541	3	2	278	1	0	0	0	0	1	0	0	0	15987	1609	56	3	121	3	TMC7	16	19020541	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	18685634	19020541	71334212	149	142954											
CD19	930	broad.mit.edu	37	chr16	28943926	28943926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggacagtcaatgtggaGggcagcggtgagggccgggc	21	8	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:28943926G>A	uc002drs.2	+	2	410	c.348G>A	c.(346-348)GAG>GAA	p.E116E	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.E116E	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	116	Extracellular (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						TCAATGTGGAGGGCAGCGGTG	0.657													A	28943926	G	A	28943926	2	1	278	1	0	0	0	0	0	0	0	1	2973	991	35	4		4	CD19	16	28943926	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	9923385	28943926	61410827	150	142955											
SLC9A5	6553	broad.mit.edu	37	chr16	67286649	67286649	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaggctgttctttgacaActtgggtgccatcctcacct	9	12	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:67286649A>C	uc002esm.2	+	2	455	c.392A>C	c.(391-393)AAC>ACC	p.N131T	SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	131					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TTCTTTGACAACTTGGGTGCC	0.562													C	67286649	A	C	67286649	3	2	278	1	0	0	0	0	1	0	0	0	14717	43	2	5	398	5	SLC9A5	16	67286649	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	38342723	67286649	23068104	151	142956											
FOXC2	2303	broad.mit.edu	37	chr16	86601967	86601967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcctgtacaccggggcCgagcggccggcgcacatgtg	16	13	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr16:86601967C>T	uc002fjq.2	+	1	1111	c.1026C>T	c.(1024-1026)GCC>GCT	p.A342A		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	342					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				0						ACACCGGGGCCGAGCGGCCGG	0.716									Late-onset_Hereditary_Lymphedema				T	86601967	C	T	86601967	2	4	278	1	0	0	0	0	0	0	0	1	5995	639	23	1		1	FOXC2	16	86601967	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	19315318	86601967	3752786	152	142957											
TP53	7157	broad.mit.edu	37	chr17	7578453	7578477	+	Frame_Shift_Del	DEL	GGCGCGGACGCGGGTGCCGGGCGGG	GGCGCGGACGCGGGTGCCGGGCGGG	-													gactgcttgtagatggccatGgcgcggacgcgggtgccggg					rs139200646		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:7578453_7578477delGGCGCGGACGCGGGTGCCGGGCGGG	uc002gim.2	-	5	647_671	c.453_477delCCCGCCCGGCACCCGCGTCCGCGCC	c.(451-477)CCCCCGCCCGGCACCCGCGTCCGCGCCfs	p.P151fs	TP53_uc002gig.1_Frame_Shift_Del_p.P151fs|TP53_uc002gih.2_Frame_Shift_Del_p.P151fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P19fs|TP53_uc010cng.1_Frame_Shift_Del_p.P19fs|TP53_uc002gii.1_Frame_Shift_Del_p.P19fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P151fs|TP53_uc010cni.1_Frame_Shift_Del_p.P151fs|TP53_uc002gij.2_Frame_Shift_Del_p.P151fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P58fs|TP53_uc002gio.2_Frame_Shift_Del_p.P19fs|TP53_uc010vug.1_Frame_Shift_Del_p.P112fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	151_159	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(139)|p.P151S(61)|p.R158H(58)|p.P152L(57)|p.R158L(55)|p.G154V(36)|p.A159V(30)|p.P151H(25)|p.R156P(24)|p.P152S(21)|p.T155N(19)|p.R158C(17)|p.T155P(14)|p.A159P(13)|p.P151T(13)|p.G154G(12)|p.P151P(12)|p.V157I(10)|p.R156H(10)|p.T155I(10)|p.P153fs*28(10)|p.R158G(10)|p.G154S(9)|p.R158P(9)|p.V157D(8)|p.A159A(8)|p.R156fs*14(8)|p.P153S(8)|p.P151A(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.P151fs*30(7)|p.T155A(7)|p.P152T(7)|p.0?(7)|p.P153P(7)|p.V157L(6)|p.G154D(6)|p.P151L(6)|p.P152fs*18(6)|p.P151R(6)|p.R158R(6)|p.P153L(6)|p.V157V(5)|p.A159fs*11(5)|p.P152fs*29(5)|p.R158fs*12(5)|p.T155T(5)|p.P152P(5)|p.A159S(4)|p.R158_A159insX(4)|p.P152Q(4)|p.P152fs*14(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.G154I(3)|p.P152R(3)|p.T150fs*16(3)|p.V157fs*13(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.R156C(2)|p.P153fs*26(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.T155S(2)|p.R158_A159delRA(2)|p.P152A(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.V157A(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*25(1)|p.Q144_G154del11(1)|p.V157_R158delVR(1)|p.P151del(1)|p.R156fs*20(1)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.G154C(1)|p.V157_M160delVRAM(1)|p.P152del(1)|p.S149fs*72(1)|p.T150_P151delTP(1)|p.T155fs*15(1)|p.T155_A161delTRVRAMA(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.P152_P153del(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.S149fs*17(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.V157fs*23(1)|p.D148fs*23(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)|p.P153F(1)|p.P153A(1)|p.P153H(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		AGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAAT	0.618		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7578477	GGCGCGGACGCGGGTGCCGGGCGGG	-	7578453	7	5	278	1	0	1	0	1	0	0	0	0	16378	1335	47	0	821	0	TP53	17	7578453	Frame_Shift_Del	DEL	GGCGCGGACGCGGGTGCCGGGCGGG	TCGA-HU-A4H2-01A-11D-A25D-08		7578453	73616757	153	142958											
NCOR1	9611	broad.mit.edu	37	chr17	15965113	15965113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctggggtgcagaagctGcagcatccacaagagcagcc	12	13	1	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:15965113G>A	uc002gpo.2	-	37	5723	c.5483C>T	c.(5482-5484)GCA>GTA	p.A1828V	NCOR1_uc002gpn.2_Missense_Mutation_p.A1844V|NCOR1_uc002gpm.2_Missense_Mutation_p.A348V|NCOR1_uc010vwb.1_Missense_Mutation_p.A412V|NCOR1_uc010coy.2_Missense_Mutation_p.A736V|NCOR1_uc010vwc.1_Missense_Mutation_p.A638V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1828	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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCAGAAGCTGCAGCATCCAC	0.537													A	15965113	G	A	15965113	3	1	278	1	0	0	0	0	1	0	0	0	10235	1319	46	2	1879	2	NCOR1	17	15965113	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	8386660	15965113	65230097	154	142959											
KRT27	342574	broad.mit.edu	37	chr17	38935958	38935958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgtggttttaccttttcGttgaaccaggcctccgcgtc	10	12	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:38935958G>A	uc002hvg.2	-	4	881	c.840C>T	c.(838-840)AAC>AAT	p.N280N		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	280	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TTACCTTTTCGTTGAACCAGG	0.662													A	38935958	G	A	38935958	2	1	278	1	0	0	0	0	0	0	0	1	8464	1136	40	1		1	KRT27	17	38935958	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	22970845	38935958	42259252	155	142960											
GPATCH8	23131	broad.mit.edu	37	chr17	42476351	42476351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtggggggactgggagcGgtagatcttagaacgaatga	17	4	1	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:42476351G>A	uc002igw.1	-	8	3158	c.3094C>T	c.(3094-3096)CGC>TGC	p.R1032C	GPATCH8_uc002igv.1_Missense_Mutation_p.R954C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R954C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1032						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GACTGGGAGCGGTAGATCTTA	0.562													A	42476351	G	A	42476351	3	1	278	1	0	0	0	0	1	0	0	0	6594	1116	39	1	1418	1	GPATCH8	17	42476351	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	3540393	42476351	38718859	156	142961											
OSBPL7	114881	broad.mit.edu	37	chr17	45892625	45892625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggagaacctcgcaggcatCgaagaactccgtgtgggaat	14	9	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:45892625C>T	uc002ilx.1	-	13	1416	c.1213G>A	c.(1213-1215)GAT>AAT	p.D405N	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	405					lipid transport		lipid binding				0						TCGCAGGCATCGAAGAACTCC	0.602													T	45892625	C	T	45892625	3	4	278	1	0	0	0	0	1	0	0	0	11282	884	31	1	1359	1	OSBPL7	17	45892625	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	3416274	45892625	35302585	157	142962											
SCRN2	90507	broad.mit.edu	37	chr17	45915694	45915694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtagagggtatgccgaCgatctacctgagtctggaat	13	9	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:45915694C>T	uc002imd.2	-	7	1187	c.1061G>A	c.(1060-1062)CGT>CAT	p.R354H	SCRN2_uc002imc.2_Missense_Mutation_p.R362H|SCRN2_uc002imf.2_Missense_Mutation_p.R354H|SCRN2_uc002ime.2_RNA	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	secernin 2 isoform 1	354					proteolysis		dipeptidase activity			ovary(1)	1						GGTATGCCGACGATCTACCTG	0.622													T	45915694	C	T	45915694	3	4	278	1	0	0	0	0	1	0	0	0	13939	536	19	1	242	1	SCRN2	17	45915694	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	23069	45915694	35279516	158	142963											
SPAG9	9043	broad.mit.edu	37	chr17	49091614	49091614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagtaaatctgctccttcatCcacatctcctattaggcctg	5	13	3	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:49091614C>T	uc002itc.2	-	9	1401	c.1192G>A	c.(1192-1194)GAT>AAT	p.D398N	SPAG9_uc002itb.2_Missense_Mutation_p.D384N|SPAG9_uc002itd.2_Missense_Mutation_p.D384N|SPAG9_uc002itf.2_Missense_Mutation_p.D219N|SPAG9_uc002ita.2_Missense_Mutation_p.D241N|SPAG9_uc002ite.2_Missense_Mutation_p.D228N	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	398					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				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTCCTTCATCCACATCTCCT	0.353													T	49091614	C	T	49091614	3	4	278	1	0	0	0	0	1	0	0	0	14985	855	30	4	2861	4	SPAG9	17	49091614	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	3175920	49091614	32103596	159	142964											
SMURF2	64750	broad.mit.edu	37	chr17	62542381	62542381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctacaaaaataccttacCaagtgtgggctttcggcagg	10	10	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:62542381C>T	uc002jep.1	-	18	2535	c.2147G>A	c.(2146-2148)TGC>TAC	p.C716Y	SMURF2_uc002jeq.1_Missense_Mutation_p.C475Y|SMURF2_uc002jer.1_Missense_Mutation_p.C475Y	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	716	HECT.	Glycyl thioester intermediate (By similarity).		C->G: Loss of activity. Loss of ability to ubiquitinate SMAD1 and SMAD2 and no down-regulation of SMAD1 and SMAD2 protein levels.|C->A: Increases Smad7-bound TGF-beta receptors in membrane rafts.	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			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AATACCTTACCAAGTGTGGGC	0.408													T	62542381	C	T	62542381	3	4	278	1	0	0	0	0	1	0	0	0	14820	608	21	4	107	4	SMURF2	17	62542381	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	13450767	62542381	18652829	160	142965											
SOX9	6662	broad.mit.edu	37	chr17	70120488	70120489	+	In_Frame_Ins	INS	-	-	ACT													cagacccacagcccccagcaINSctgggaacaacccgtctaca							TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr17:70120487_70120488C>CACT	uc002jiw.3	+	2	1861_1862	c.1489_1490C>CACT	c.(1489-1491)cac>CACTc	p.H497H		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	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	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			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)			CAGCCCCCAGCACTGGGAACAA	0.594													ACT	70120489	-	ACT	70120488	7	5	278	1	0	1	1	0	0	0	0	0	14958	159	6	0	1500	0	SOX9	17	70120488	In_Frame_Ins	INS	-	TCGA-HU-A4H2-01A-11D-A25D-08	7578107	70120488	11074722	161	142966											
TMX3	54495	broad.mit.edu	37	chr18	66378633	66378633	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtcatcatttcgattttCtttaaacctaaaaaacaaga	3	7	3	1	rs140330197		TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr18:66378633C>T	uc002lkf.2	-	3	244	c.109G>A	c.(109-111)GAA>AAA	p.E37K	TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.E37K|TMX3_uc002lkg.3_Missense_Mutation_p.E37K	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	37	Thioredoxin.|Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.E37K(1)		skin(1)	1						TTTCGATTTTCTTTAAACCTA	0.274													T	66378633	C	T	66378633	3	4	278	1	0	0	0	0	1	0	0	0	16265	922	32	4	1311	4	TMX3	18	66378633	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		66378633	11698615	162	142967											
CNDP1	84735	broad.mit.edu	37	chr18	72228193	72228193	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacggccacttggacgtgCagcctgctgaccggggcgat	14	13	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr18:72228193C>T	uc002llq.2	+	4	617	c.406C>T	c.(406-408)CAG>TAG	p.Q136*	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	136					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTTGGACGTGCAGCCTGCTGA	0.642													T	72228193	C	T	72228193	4	4	278	1	0	0	0	0	0	1	0	0	3593	711	25	2	420	2	CNDP1	18	72228193	Nonsense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	5849560	72228193	5849055	163	142968											
PRAM1	84106	broad.mit.edu	37	chr19	8563996	8563996	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttagggaggccaccgacCtgaggctgcggaggcttttt	14	10	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:8563996C>G	uc002mkd.2	-	2	716	c.696G>C	c.(694-696)CAG>CAC	p.Q232H	PRAM1_uc002mkc.2_Missense_Mutation_p.Q232H	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	280	Pro-rich.						lipid binding|protein binding				0						GGCCACCGACCTGAGGCTGCG	0.632													G	8563996	C	G	8563996	3	3	278	1	0	0	0	0	1	0	0	0	12423	680	24	5	1349	5	PRAM1	19	8563996	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		8563996	50564987	164	142969											
ICAM1	3383	broad.mit.edu	37	chr19	10394179	10394179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccagaacgggtggaactGgcacccctcccctcttggca	10	16	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:10394179G>A	uc002mnq.2	+	3	673	c.354G>A	c.(352-354)CTG>CTA	p.L118L	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	118	Extracellular (Potential).				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGGTGGAACTGGCACCCCTCC	0.642													A	10394179	G	A	10394179	2	1	278	1	0	0	0	0	0	0	0	1	7479	1335	47	4		4	ICAM1	19	10394179	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	1830183	10394179	48734804	165	142970											
RYR1	6261	broad.mit.edu	37	chr19	38937121	38937121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctccaggcttcgtgaCgggaggtcacgtcctccgcc	11	17	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:38937121C>T	uc002oit.2	+	8	771	c.641C>T	c.(640-642)ACG>ATG	p.T214M	RYR1_uc002oiu.2_Missense_Mutation_p.T214M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	214	MIR 3.|Cytoplasmic.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTTCGTGACGGGAGGTCAC	0.602													T	38937121	C	T	38937121	3	4	278	1	0	0	0	0	1	0	0	0	13768	536	19	1	671	1	RYR1	19	38937121	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	28542942	38937121	20191862	166	142971											
ZNF284	342909	broad.mit.edu	37	chr19	44590346	44590346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgagcagtgtgggaaaAgtttcagccgtagatcagga	14	5	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:44590346A>C	uc002oyg.1	+	5	931	c.715A>C	c.(715-717)AGT>CGT	p.S239R	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	239	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				GTGTGGGAAAAGTTTCAGCCG	0.408													C	44590346	A	C	44590346	3	2	278	1	0	0	0	0	1	0	0	0	17818	72	3	5	729	5	ZNF284	19	44590346	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	5653225	44590346	14538637	167	142972											
ZNF320	162967	broad.mit.edu	37	chr19	53384360	53384360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcaagatgtgatttgCgactgaaaactttgtcgcat	9	7	2	3			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:53384360C>T	uc002qag.2	-	4	1210	c.1019G>A	c.(1018-1020)CGC>CAC	p.R340H	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R286H|ZNF320_uc002qai.2_Missense_Mutation_p.R340H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	340	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ATGTGATTTGCGACTGAAAAC	0.428													T	53384360	C	T	53384360	3	4	278	1	0	0	0	0	1	0	0	0	17836	768	27	1	514	1	ZNF320	19	53384360	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	8794014	53384360	5744623	168	142973											
PRKCG	5582	broad.mit.edu	37	chr19	54395881	54395881	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctcggagctgctcaagGcgcccgtggatggctggtga	17	11	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:54395881G>C	uc002qcq.1	+	7	1087	c.805G>C	c.(805-807)GCG>CCG	p.A269P	PRKCG_uc010eqz.1_Missense_Mutation_p.A269P|PRKCG_uc010yef.1_Missense_Mutation_p.A269P|PRKCG_uc010yeg.1_Missense_Mutation_p.A269P|PRKCG_uc010yeh.1_Missense_Mutation_p.A156P	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	269					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			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	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)		GCTGCTCAAGGCGCCCGTGGA	0.642													C	54395881	G	C	54395881	3	2	278	1	0	0	0	0	1	0	0	0	12512	1203	42	5	831	5	PRKCG	19	54395881	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	1011521	54395881	4733102	169	142974											
PTPRH	5794	broad.mit.edu	37	chr19	55708067	55708067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctccaactcaaaggcctCgtagcctccctgggggcagg	11	16	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:55708067C>T	uc002qjq.2	-	10	2153	c.2080G>A	c.(2080-2082)GAG>AAG	p.E694K	PTPRH_uc010esv.2_Missense_Mutation_p.E516K|PTPRH_uc002qjs.2_Missense_Mutation_p.E701K	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	694	Extracellular (Potential).|Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCAAAGGCCTCGTAGCCTCCC	0.612													T	55708067	C	T	55708067	3	4	278	1	0	0	0	0	1	0	0	0	12803	893	31	1	1311	1	PTPRH	19	55708067	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	1312186	55708067	3420916	170	142975											
ZNF256	10172	broad.mit.edu	37	chr19	58452346	58452346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggagttgaaggtaaaaaaTtttccacagtcactacactc	7	8	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr19:58452346T>A	uc002qqu.2	-	3	2065	c.1830A>T	c.(1828-1830)AAA>AAT	p.K610N	ZNF256_uc010euj.2_Missense_Mutation_p.K457N	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	610	C2H2-type 15.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		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;0.0155)		AGGTAAAAAATTTTCCACAGT	0.443													A	58452346	T	A	58452346	3	1	278	1	0	0	0	0	1	0	0	0	17796	1490	52	5	57	5	ZNF256	19	58452346	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	2744279	58452346	676637	171	142976											
TMC2	117532	broad.mit.edu	37	chr20	2604963	2604963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaagagaccattgaaaacGatttcccaaccttcctgggc	7	13	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:2604963G>A	uc002wgf.1	+	17	2242	c.2227G>A	c.(2227-2229)GAT>AAT	p.D743N	TMC2_uc002wgg.1_Missense_Mutation_p.D727N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	743	Extracellular (Potential).					integral to membrane				ovary(3)	3						CATTGAAAACGATTTCCCAAC	0.483													A	2604963	G	A	2604963	3	1	278	1	0	0	0	0	1	0	0	0	15982	1058	37	1	2293	1	TMC2	20	2604963	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		2604963	60420557	172	142977											
PAK7	57144	broad.mit.edu	37	chr20	9546762	9546762	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctggagggctgctggtcGgaggaggagccccagctggg	19	11	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:9546762G>T	uc002wnl.2	-	6	1805	c.1260C>A	c.(1258-1260)TCC>TCA	p.S420S	PAK7_uc002wnk.2_Silent_p.S420S|PAK7_uc002wnj.2_Silent_p.S420S|PAK7_uc010gby.1_Silent_p.S420S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	420	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			GCTGCTGGTCGGAGGAGGAGC	0.632													T	9546762	G	T	9546762	2	4	278	1	0	0	0	0	0	0	0	1	11405	1103	39	5		5	PAK7	20	9546762	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	6941799	9546762	53478758	173	142978											
C20orf12	55184	broad.mit.edu	37	chr20	18414372	18414372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacagatgggagtgttcAtgggtaccaagcttctgcat	11	10	2	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:18414372A>G	uc010zsa.1	-	9	1051	c.842T>C	c.(841-843)ATG>ACG	p.M281T	C20orf12_uc002wqp.3_Missense_Mutation_p.M13T|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.M148T|C20orf12_uc002wqq.3_Missense_Mutation_p.M262T|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	89						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				GGGAGTGTTCATGGGTACCAA	0.458													G	18414372	A	G	18414372	3	3	278	1	0	0	0	0	1	0	0	0	2085	217	8	3	1525	3	C20orf12	20	18414372	Missense_Mutation	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	8867610	18414372	44611148	174	142979											
FOXA2	3170	broad.mit.edu	37	chr20	22564868	22564868	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgctccagtcggacggctCgtgcccttccatcttcaccg	10	17	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:22564868C>A	uc002wsn.2	-	2	221	c.31G>T	c.(31-33)GAG>TAG	p.E11*	FOXA2_uc002wsm.2_Nonsense_Mutation_p.E17*	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	11					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			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					TCGGACGGCTCGTGCCCTTCC	0.587													A	22564868	C	A	22564868	4	1	278	1	0	0	0	0	0	1	0	0	5990	893	31	5	1350	5	FOXA2	20	22564868	Nonsense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	4150496	22564868	40460652	175	142980											
C20orf114	92747	broad.mit.edu	37	chr20	31890858	31890858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctccagtgaagccctccGccctttgttcaccctgggca	8	18	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:31890858G>A	uc002wyw.1	+	11	1279	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	C20orf114_uc002wyx.1_RNA	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	373						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						GAAGCCCTCCGCCCTTTGTTC	0.532													A	31890858	G	A	31890858	3	1	278	1	0	0	0	0	1	0	0	0	2082	1087	38	1	1156	1	C20orf114	20	31890858	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	9325990	31890858	31134662	176	142981											
SGK2	10110	broad.mit.edu	37	chr20	42196350	42196350	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaagtcatcggcaaaggGaactacgggaaggtgagtga	14	7	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:42196350G>A	uc002xkv.2	+	3	531	c.312G>A	c.(310-312)GGG>GGA	p.G104G	SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Silent_p.G44G|SGK2_uc010ggm.2_Silent_p.G44G|SGK2_uc002xks.2_Silent_p.G44G|SGK2_uc002xku.2_Silent_p.G44G|SGK2_uc002xkq.1_Silent_p.G44G	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	104	ATP (By similarity).|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			lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGGCAAAGGGAACTACGGGA	0.552													A	42196350	G	A	42196350	2	1	278	1	0	0	0	0	0	0	0	1	14209	1161	41	4		4	SGK2	20	42196350	Silent	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	10305492	42196350	20829170	177	142982											
JPH2	57158	broad.mit.edu	37	chr20	42788598	42788598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatcggcctcgaagggtgCggcctcgtcggcgccctcgg	16	14	0	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:42788598C>T	uc002xli.1	-	2	1702	c.829G>A	c.(829-831)GCA>ACA	p.A277T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	277	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCGAAGGGTGCGGCCTCGTCG	0.687													T	42788598	C	T	42788598	3	4	278	1	0	0	0	0	1	0	0	0	7961	768	27	1	1277	1	JPH2	20	42788598	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	592248	42788598	20236922	178	142983											
SLC12A5	57468	broad.mit.edu	37	chr20	44681717	44681717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtttggtggattgtgcaCgatggaggcatgctcatgct	15	7	1	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:44681717C>T	uc010zxl.1	+	19	2644	c.2568C>T	c.(2566-2568)CAC>CAT	p.H856H	SLC12A5_uc002xrb.2_Silent_p.H833H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	856	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGATTGTGCACGATGGAGGCA	0.448													T	44681717	C	T	44681717	2	4	278	1	0	0	0	0	0	0	0	1	14386	535	19	1		1	SLC12A5	20	44681717	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	1893119	44681717	18343803	179	142984											
DOK5	55816	broad.mit.edu	37	chr20	53208299	53208299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccgctaagcgccctgcGgcggtatggacgtgatacta	14	11	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:53208299G>A	uc002xwy.2	+	5	774	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DOK5_uc010gin.2_Missense_Mutation_p.R77Q|DOK5_uc002xwz.2_Missense_Mutation_p.R47Q	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	185	IRS-type PTB.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGCGCCCTGCGGCGGTATGGA	0.458													A	53208299	G	A	53208299	3	1	278	1	0	0	0	0	1	0	0	0	4700	1116	39	1	572	1	DOK5	20	53208299	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	8526582	53208299	9817221	180	142985											
MC3R	4159	broad.mit.edu	37	chr20	54824725	54824725	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacccctactgcatcTgctacactgcccacttcaac	3	20	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr20:54824725T>A	uc002xxb.2	+	1	938	c.826T>A	c.(826-828)TGC>AGC	p.C276S		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	313	Extracellular (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CTACTGCATCTGCTACACTGC	0.567													A	54824725	T	A	54824725	3	1	278	1	0	0	0	0	1	0	0	0	9365	1580	55	5	828	5	MC3R	20	54824725	Missense_Mutation	SNP	T	TCGA-HU-A4H2-01A-11D-A25D-08	1616426	54824725	8200795	181	142986											
CACNG2	10369	broad.mit.edu	37	chr22	36960645	36960645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgagggctccgtggagCgcgagctggagcggctgcgg	21	9	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chr22:36960645C>T	uc003aps.1	-	4	1007	c.725G>A	c.(724-726)CGC>CAC	p.R242H		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	242					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				0						CTCCGTGGAGCGCGAGCTGGA	0.697													T	36960645	C	T	36960645	3	4	278	1	0	0	0	0	1	0	0	0	2557	768	27	1	250	1	CACNG2	22	36960645	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08		36960645	14343921	182	142987											
ARX	170302	broad.mit.edu	37	chrX	25033778	25033778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatgctgtcgatgcagtagGaggagagcaaagttggagat	17	4	0	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:25033778G>A	uc004dbp.3	-	1	288	c.77C>T	c.(76-78)TCC>TTC	p.S26F		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	26						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GATGCAGTAGGAGGAGAGCAA	0.627													A	25033778	G	A	25033778	3	1	278	1	0	0	0	0	1	0	0	0	1004	1174	41	4	1631	4	ARX	23	25033778	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08		25033778	130236782	183	142988											
PCDH11X	27328	broad.mit.edu	37	chrX	91873460	91873460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaccacagcccacgaGtgacacagaccattgctctc	7	17	2	2			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:91873460G>A	uc004efk.1	+	7	4410	c.3565G>A	c.(3565-3567)GTG>ATG	p.V1189M	PCDH11X_uc004efl.1_Missense_Mutation_p.V1179M|PCDH11X_uc004efo.1_Missense_Mutation_p.V1152M|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.V1181M|PCDH11X_uc004efn.1_Missense_Mutation_p.V1171M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1189	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGCCCACGAGTGACACAGAC	0.587													A	91873460	G	A	91873460	3	1	278	1	0	0	0	0	1	0	0	0	11508	1029	36	4	3713	4	PCDH11X	23	91873460	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	66839682	91873460	63397100	184	142989											
COL4A5	1287	broad.mit.edu	37	chrX	107838773	107838773	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgcttcaactgcattggAactggtatttcagggcctcc	9	11	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:107838773A>C	uc004enz.1	+	22	1660	c.1458A>C	c.(1456-1458)GGA>GGC	p.G486G	COL4A5_uc011mso.1_Silent_p.G486G|COL4A5_uc004eob.1_Silent_p.G94G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	486	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ACTGCATTGGAACTGGTATTT	0.413									Alport_syndrome_with_Diffuse_Leiomyomatosis				C	107838773	A	C	107838773	2	2	278	1	0	0	0	0	0	0	0	1	3694	233	9	5		5	COL4A5	23	107838773	Silent	SNP	A	TCGA-HU-A4H2-01A-11D-A25D-08	15965313	107838773	47431787	185	142990											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299816	125299816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggcccctctccgtccGccgccgctaaaccctgcgac	10	20	1	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:125299816G>A	uc004euk.1	-	1	119	c.92C>T	c.(91-93)GCG>GTG	p.A31V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTCTCCGTCCGCCGCCGCTAA	0.701													A	125299816	G	A	125299816	3	1	278	1	0	0	0	0	1	0	0	0	4265	1087	38	1	1303	1	DCAF12L2	23	125299816	Missense_Mutation	SNP	G	TCGA-HU-A4H2-01A-11D-A25D-08	17461043	125299816	29970744	186	142991											
ARHGAP36	158763	broad.mit.edu	37	chrX	130219891	130219891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttcctttgcctaggtccCaggcaaccgtatgacttcca	8	14	0	1			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:130219891C>T	uc004evz.2	+	9	1454	c.1109C>T	c.(1108-1110)CCA>CTA	p.P370L	ARHGAP36_uc004ewa.2_Missense_Mutation_p.P358L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.P339L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.P234L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	370	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						GCCTAGGTCCCAGGCAACCGT	0.438													T	130219891	C	T	130219891	3	4	278	1	0	0	0	0	1	0	0	0	883	594	21	4	1139	4	ARHGAP36	23	130219891	Missense_Mutation	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	4920075	130219891	25050669	187	142992											
RENBP	5973	broad.mit.edu	37	chrX	153208373	153208373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtatttgcccgccagctcCtcatctgcctccccgagctg	9	18	2	0			TCGA-HU-A4H2-01A-11D-A25D-08	TCGA-HU-A4H2-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20b0e793-af9a-4087-9b96-d94dc5e6e62c	327ac72c-b6ed-4beb-82fe-2b57a684d258	g.chrX:153208373C>T	uc004fjo.1	-	6	791	c.621G>A	c.(619-621)GAG>GAA	p.E207E	RENBP_uc011mzh.1_Silent_p.E207E	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	207	Leucine-zipper.				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	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)	CCGCCAGCTCCTCATCTGCCT	0.701													T	153208373	C	T	153208373	2	4	278	1	0	0	0	0	0	0	0	1	13225	680	24	4		4	RENBP	23	153208373	Silent	SNP	C	TCGA-HU-A4H2-01A-11D-A25D-08	22988482	153208373	2062187	188	142993											
SKI	6497	broad.mit.edu	37	chr1	2235330	2235330	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggcgcccaacgtggccctCgcaccgccggcccagcagaa	13	18	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:2235330C>T	uc001aja.3	+	4	1335	c.1263C>T	c.(1261-1263)CTC>CTT	p.L421L		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	421					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			lung(1)|central_nervous_system(1)	2	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)		ACGTGGCCCTCGCACCGCCGG	0.692													T	2235330	C	T	2235330	2	4	279	1	0	0	0	0	0	0	0	1	14357	871	31	1		1	SKI	1	2235330	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08		2235330	247015291	1	142994											
MMEL1	79258	broad.mit.edu	37	chr1	2523063	2523063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcgggccggtaggaccCgcaccacacctgtgggcatg	14	14	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:2523063C>T	uc001ajy.2	-	23	2387	c.2173G>A	c.(2173-2175)GGG>AGG	p.G725R	MMEL1_uc009vlg.1_RNA	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	725	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	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)		CGGTAGGACCCGCACCACACC	0.647													T	2523063	C	T	2523063	3	4	279	1	0	0	0	0	1	0	0	0	9646	652	23	1	174	1	MMEL1	1	2523063	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	287733	2523063	246727558	2	142995											
PLEKHG5	57449	broad.mit.edu	37	chr1	6533171	6533171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcccccggggcagccTgggcagcccgaagaggctgt	17	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:6533171T>C	uc001ano.1	-	10	1128	c.1027A>G	c.(1027-1029)AGG>GGG	p.R343G	PLEKHG5_uc001ann.1_Missense_Mutation_p.R324G|PLEKHG5_uc001anq.1_Missense_Mutation_p.R364G|PLEKHG5_uc001anp.1_Missense_Mutation_p.R364G|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.R127G|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R356G|PLEKHG5_uc001ank.1_Missense_Mutation_p.R287G|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R287G|PLEKHG5_uc001anl.1_Missense_Mutation_p.R287G|PLEKHG5_uc001anm.1_Missense_Mutation_p.R287G	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	343					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)		CGGGGCAGCCTGGGCAGCCCG	0.622													C	6533171	T	C	6533171	3	2	279	1	0	0	0	0	1	0	0	0	12073	1579	55	3	2213	3	PLEKHG5	1	6533171	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	4010108	6533171	242717450	3	142996											
TAS1R1	80835	broad.mit.edu	37	chr1	6636499	6636499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcagatccacaaggtgCatttccttctacacaaggac	9	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:6636499C>T	uc001ant.2	+	4	1285	c.1285C>T	c.(1285-1287)CAT>TAT	p.H429Y	TAS1R1_uc001anu.2_Missense_Mutation_p.H175Y|TAS1R1_uc001anv.2_Missense_Mutation_p.H175Y|TAS1R1_uc001anw.2_Intron	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	429	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		CCACAAGGTGCATTTCCTTCT	0.512													T	6636499	C	T	6636499	3	4	279	1	0	0	0	0	1	0	0	0	15559	710	25	2	1299	2	TAS1R1	1	6636499	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	103328	6636499	242614122	4	142997											
UTS2	10911	broad.mit.edu	37	chr1	7913491	7913491	+	Frame_Shift_Del	DEL	T	T	-													atgaaatacgttggtttccaTtttttaatctttcatgagtg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:7913490_7913490AT>A	uc001aos.3	-	0	76	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	UTS2_uc001aoq.3_5'UTR|UTS2_uc001aor.3_5'Flank	NM_021995	NP_068835	O95399	UTS2_HUMAN	Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA.	0					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;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;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GTTGGTTTCCATTTTTTAATC	0.423													-	7913491	T	-	7913491	7	5	279	1	0	1	0	1	0	0	0	0	17101	1493	52	0	518	0	UTS2	1	7913491	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	1276992	7913491	241337130	5	142998											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998254	7998254	+	Splice_Site	DEL	T	T	-													caaagaaacgcaaacgtaccTttttttgtcagttcttgacc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408													-	7998254	T	-	7998254	8	5	279	1	0	1	0	1	0	0	1	0	16297	1623	56	0	442	0	TNFRSF9	1	7998254	Splice_Site	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	84763	7998254	241252367	6	142999											
PARK7	11315	broad.mit.edu	37	chr1	8029467	8029468	+	Splice_Site	INS	-	-	A													cacagaatttatctgaggtaINSaaaaattctactcaattata							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:8029466_8029467T>TA	uc001aou.4	+	4	357	c.252_splice	c.e4+2	p.E84_splice	PARK7_uc001aox.4_Splice_Site_p.E84_splice|PARK7_uc001aov.4_Intron	NM_001123377	NP_009193	Q99497	PARK7_HUMAN	Homo sapiens parkinson protein 7 (PARK7), transcript variant 2, mRNA.	84					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	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;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTATCTGAGGTAAAAAATTCTA	0.347													A	8029468	-	A	8029467	8	5	279	1	0	1	1	0	0	0	1	0	11450	377	13	0		0	PARK7	1	8029467	Splice_Site	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	31213	8029467	241221154	7	143000											
ERRFI1	54206	broad.mit.edu	37	chr1	8074255	8074255	+	Frame_Shift_Del	DEL	T	T	-													aggggaaaagggaaggggagTtttttatgggtgtcagtgga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:8074255delT	uc001aoz.2	-	4	653	c.404delA	c.(403-405)AACfs	p.N135fs	ERRFI1_uc001apa.1_Frame_Shift_Del_p.N60fs	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	135					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			ovary(1)	1	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)		GGAAGGGGAGTTTTTTATGGG	0.502													-	8074255	T	-	8074255	7	5	279	1	0	1	0	1	0	0	0	0	5244	1725	60	0	988	0	ERRFI1	1	8074255	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	44788	8074255	241176366	8	143001											
RERE	473	broad.mit.edu	37	chr1	8415661	8415661	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgggggtagggggtgccTgccgaacacaaaacaacctg	14	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:8415661T>G	uc001ape.2	-	23	5297	c.4487_splice	c.e23-1	p.G1496_splice	RERE_uc001apf.2_Splice_Site_p.G1496_splice|RERE_uc001apd.2_Splice_Site_p.G942_splice	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a						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			ovary(1)|central_nervous_system(1)	2	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)		AGGGGGTGCCTGCCGAACACA	0.642													G	8415661	T	G	8415661	5	3	279	1	0	0	0	0	0	0	1	0	13231	1594	55	5	223	5	RERE	1	8415661	Splice_Site	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	341406	8415661	240834960	9	143002											
SLC2A7	155184	broad.mit.edu	37	chr1	9067418	9067418	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaaagacacagatgatgccGaggtaggacagctcggggac	15	9	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:9067418G>T	uc009vmo.1	-	10	1143	c.1143C>A	c.(1141-1143)CTC>CTA	p.L381L		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	381	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)		AGATGATGCCGAGGTAGGACA	0.607													T	9067418	G	T	9067418	2	4	279	1	0	0	0	0	0	0	0	1	14550	1045	37	5		5	SLC2A7	1	9067418	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	651757	9067418	240183203	10	143003											
UBE4B	10277	broad.mit.edu	37	chr1	10155592	10155592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctaatagccttgaaacGcaatctcagtctctctcacg	5	15	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10155592G>A	uc001aqs.3	+	3	998	c.285G>A	c.(283-285)ACG>ACA	p.T95T	UBE4B_uc001aqr.3_Silent_p.T95T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	95					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		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)		GCCTTGAAACGCAATCTCAGT	0.443													A	10155592	G	A	10155592	2	1	279	1	0	0	0	0	0	0	0	1	16880	1074	38	1		1	UBE4B	1	10155592	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1088174	10155592	239095029	11	143004											
UBE4B	10277	broad.mit.edu	37	chr1	10190819	10190819	+	Frame_Shift_Del	DEL	A	A	-													agggcctgccattaccctggAaaacactcgtgtggttagcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10190818_10190818GA>G	uc021ogc.1	+	14	2699	c.2011_2011GA>G	c.(2011-2013)gaafs	p.E671fs	UBE4B_uc001aqs.4_Frame_Shift_Del_p.E620fs|UBE4B_uc001aqr.4_Frame_Shift_Del_p.E491fs|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Frame_Shift_Del_p.E75fs	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	620					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)		CATTACCCTGGAAAACACTCG	0.408													-	10190819	A	-	10190819	7	5	279	1	0	1	0	1	0	0	0	0	16880	246	9	0	1913	0	UBE4B	1	10190819	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	35227	10190819	239059802	12	143005											
KIF1B	23095	broad.mit.edu	37	chr1	10384888	10384888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtgcccaagacgaaagCgaaaccactgtgactggcag	11	12	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10384888C>T	uc001aqx.3	+	26	2812	c.2610C>T	c.(2608-2610)AGC>AGT	p.S870S	KIF1B_uc001aqw.3_Silent_p.S824S|KIF1B_uc001aqy.2_Silent_p.S844S|KIF1B_uc001aqz.2_Silent_p.S870S|KIF1B_uc001ara.2_Silent_p.S830S|KIF1B_uc001arb.2_Silent_p.S856S	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	870					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		AAGACGAAAGCGAAACCACTG	0.468													T	10384888	C	T	10384888	2	4	279	1	0	0	0	0	0	0	0	1	8284	767	27	1		1	KIF1B	1	10384888	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	194069	10384888	238865733	13	143006											
KIF1B	23095	broad.mit.edu	37	chr1	10399859	10399859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatgaagcattctccaCggagcccctcaaaaacaatg	7	13	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:10399859C>T	uc001aqx.3	+	32	3657	c.3455C>T	c.(3454-3456)ACG>ATG	p.T1152M	KIF1B_uc001aqw.3_Missense_Mutation_p.T1106M|KIF1B_uc001aqy.2_Missense_Mutation_p.T1126M|KIF1B_uc001aqz.2_Missense_Mutation_p.T1152M|KIF1B_uc001ara.2_Missense_Mutation_p.T1112M|KIF1B_uc001arb.2_Missense_Mutation_p.T1138M	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1152					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			ovary(2)|upper_aerodigestive_tract(1)	3	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)		GCATTCTCCACGGAGCCCCTC	0.393													T	10399859	C	T	10399859	3	4	279	1	0	0	0	0	1	0	0	0	8284	536	19	1	4920	1	KIF1B	1	10399859	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	14971	10399859	238850762	14	143007											
C1orf187	374946	broad.mit.edu	37	chr1	11769435	11769435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcctccaccagcctggcGcccaccatgttctttctcac	6	18	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:11769435G>A	uc001asr.1	+	3	695	c.555G>A	c.(553-555)GCG>GCA	p.A185A		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	185					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	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;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCAGCCTGGCGCCCACCATGT	0.632													A	11769435	G	A	11769435	2	1	279	1	0	0	0	0	0	0	0	1	2021	1074	38	1		1	C1orf187	1	11769435	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1369576	11769435	237481186	15	143008											
C1orf89	79363	broad.mit.edu	37	chr1	16558758	16558758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaggctgtgaggtcccGctcgggcacgtccgtgtgca	16	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:16558758G>A	uc001ayd.2	-	5	984	c.562C>T	c.(562-564)CGG>TGG	p.R188W		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	hypothetical protein LOC79363	188	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding				0		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;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GTGAGGTCCCGCTCGGGCACG	0.677													A	16558758	G	A	16558758	3	1	279	1	0	0	0	0	1	0	0	0	2066	1086	38	1	218	1	C1orf89	1	16558758	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4789323	16558758	232691863	16	143009											
C1QB	713	broad.mit.edu	37	chr1	22987798	22987798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtcttcctgcaggccacCgacaagaactcactactggg	9	14	2	1	rs146518300		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:22987798C>T	uc001bgd.2	+	3	813	c.681C>T	c.(679-681)ACC>ACT	p.T227T		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	227	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		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;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)	TGCAGGCCACCGACAAGAACT	0.567													T	22987798	C	T	22987798	2	4	279	1	0	0	0	0	0	0	0	1	1955	639	23	1		1	C1QB	1	22987798	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6429040	22987798	226262823	17	143010											
MYOM3	127294	broad.mit.edu	37	chr1	24400729	24400729	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtaggtgcccaaatcctcGaggccgggttctttcaggat	13	10	2	0	rs143604444	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:24400729G>A	uc001bin.3	-	23	3052	c.2889C>T	c.(2887-2889)CTC>CTT	p.L963L	MYOM3_uc001bim.3_Silent_p.L620L|MYOM3_uc001bio.2_Silent_p.L963L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	963										skin(2)|ovary(1)	3		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)		CCAAATCCTCGAGGCCGGGTT	0.587													A	24400729	G	A	24400729	2	1	279	1	0	0	0	0	0	0	0	1	10093	1045	37	1		1	MYOM3	1	24400729	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1412931	24400729	224849892	18	143011											
ARID1A	8289	broad.mit.edu	37	chr1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-													tgctgcactggcggattggtGggggggacaccactgagcat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(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)		GGCGGATTGGTGGGGGGGACA	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27105931	G	-	27105931	7	5	279	1	0	1	0	1	0	0	0	0	913	1348	47	0	5620	0	ARID1A	1	27105931	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	2705202	27105931	222144690	19	143012											
NR0B2	8431	broad.mit.edu	37	chr1	27238397	27238397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatctccaatgatagggCgaaagaagaggtccccaagc	10	11	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:27238397C>T	uc001bnf.2	-	2	849	c.713G>A	c.(712-714)CGC>CAC	p.R238H		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	238					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		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)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|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)		AATGATAGGGCGAAAGAAGAG	0.612													T	27238397	C	T	27238397	3	4	279	1	0	0	0	0	1	0	0	0	10614	768	27	1	64	1	NR0B2	1	27238397	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	132466	27238397	222012224	20	143013											
WASF2	10163	broad.mit.edu	37	chr1	27736343	27736343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggaggaggaggaggaggGggaggaggaggtgctcctcc	22	8	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:27736343G>A	uc001bof.1	-	8	1398	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	WASF2_uc010ofl.1_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	394	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			skin(2)|ovary(1)	3		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)		gaggaggagggggaggaggag	0.532													A	27736343	G	A	27736343	2	1	279	1	0	0	0	0	0	0	0	1	17250	1219	43	4		4	WASF2	1	27736343	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	497946	27736343	221514278	21	143014											
RCC1	1104	broad.mit.edu	37	chr1	28862888	28862888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatacagtctgcatggattCggaaggtagggcctttacgt	12	9	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:28862888C>T	uc001bqg.1	+	8	1017	c.932C>T	c.(931-933)TCG>TTG	p.S311L	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.S311L|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.S311L|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.S311L|RCC1_uc001bqe.1_Missense_Mutation_p.S328L|RCC1_uc001bqf.1_Missense_Mutation_p.S342L	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	311	RCC1 5.				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			ovary(1)	1		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)		TGCATGGATTCGGAAGGTAGG	0.542													T	28862888	C	T	28862888	3	4	279	1	0	0	0	0	1	0	0	0	13173	893	31	1	1055	1	RCC1	1	28862888	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1126545	28862888	220387733	22	143015											
IQCC	55721	broad.mit.edu	37	chr1	32672879	32672879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgagatccccagaggcGggcccgatcagagaggaacc	13	13	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:32672879G>A	uc001bum.2	+	5	644	c.597G>A	c.(595-597)GCG>GCA	p.A199A	IQCC_uc009vua.2_Silent_p.A279A|IQCC_uc010ogz.1_Silent_p.A99A|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	199										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCCAGAGGCGGGCCCGATCA	0.567													A	32672879	G	A	32672879	2	1	279	1	0	0	0	0	0	0	0	1	7804	1103	39	1		1	IQCC	1	32672879	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3809991	32672879	216577742	23	143016											
CLSPN	63967	broad.mit.edu	37	chr1	36215282	36215283	+	Frame_Shift_Del	DEL	GA	GA	-													gaagtaaagtagaatctgatGagagagacttgggaacagag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:36215282_36215283delGA	uc001bzi.2	-	11	2238_2239	c.2158_2159delTC	c.(2158-2160)TCAfs	p.S720fs	CLSPN_uc009vux.2_Frame_Shift_Del_p.S656fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	720					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			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAATCTGATGAGAGAGACTTG	0.381													-	36215283	GA	-	36215282	7	5	279	1	0	1	0	1	0	0	0	0	3560	1294	45	0	1920	0	CLSPN	1	36215282	Frame_Shift_Del	DEL	GA	TCGA-HU-A4H3-01A-21D-A25D-08	3542403	36215282	213035339	24	143017											
EIF2C4	192670	broad.mit.edu	37	chr1	36288485	36288485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagtagatacaatggtgCggcacttcaagatgcaaata	11	6	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:36288485C>T	uc001bzj.1	+	3	398	c.208C>T	c.(208-210)CGG>TGG	p.R70W		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	70					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACAATGGTGCGGCACTTCAA	0.423													T	36288485	C	T	36288485	3	4	279	1	0	0	0	0	1	0	0	0	5008	759	27	1	218	1	EIF2C4	1	36288485	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	73203	36288485	212962136	25	143018											
STK40	83931	broad.mit.edu	37	chr1	36809855	36809855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcactgggcttgccacgGtacggccggcctacgggcac	14	14	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:36809855G>A	uc001cak.1	-	9	1157	c.750C>T	c.(748-750)TAC>TAT	p.Y250Y	STK40_uc001cal.1_Silent_p.Y255Y|STK40_uc001cam.1_Silent_p.Y250Y|STK40_uc009vva.1_Silent_p.Y250Y|STK40_uc001can.1_Silent_p.Y250Y	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	250	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)				GCTTGCCACGGTACGGCCGGC	0.637													A	36809855	G	A	36809855	2	1	279	1	0	0	0	0	0	0	0	1	15306	1256	44	4		4	STK40	1	36809855	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	521370	36809855	212440766	26	143019											
DNALI1	7802	broad.mit.edu	37	chr1	38027698	38027698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagatcgcagaattggagaCggaaaagagagacctggaga	14	6	1	6	rs140560934	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:38027698C>T	uc001cbj.2	+	5	669	c.659C>T	c.(658-660)ACG>ATG	p.T220M	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	198	Potential.				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAATTGGAGACGGAAAAGAGA	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38027698	C	T	38027698	3	4	279	1	0	0	0	0	1	0	0	0	4659	536	19	1	677	1	DNALI1	1	38027698	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1217843	38027698	211222923	27	143020											
INPP5B	3633	broad.mit.edu	37	chr1	38411462	38411462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgctccaggcggtagcGcacgagtcccaggaggcggc	17	14	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:38411462G>A	uc001ccg.1	-	3	212	c.118C>T	c.(118-120)CGC>TGC	p.R40C	INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	40					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			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCGGTAGCGCACGAGTCCC	0.667													A	38411462	G	A	38411462	3	1	279	1	0	0	0	0	1	0	0	0	7755	1087	38	1	2711	1	INPP5B	1	38411462	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	383764	38411462	210839159	28	143021											
BMP8A	353500	broad.mit.edu	37	chr1	39988086	39988086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcagatgacgtccgcGgctcccacggccggcaggtc	13	17	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:39988086G>A	uc001cdi.2	+	5	1226	c.880G>A	c.(880-882)GGC>AGC	p.G294S	PPIEL_uc001cdj.1_RNA|PPIEL_uc001cdk.2_RNA	NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8A precursor	294					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACGTCCGCGGCTCCCACGG	0.597													A	39988086	G	A	39988086	3	1	279	1	0	0	0	0	1	0	0	0	1466	1116	39	1	898	1	BMP8A	1	39988086	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1576624	39988086	209262535	29	143022											
CCDC17	149483	broad.mit.edu	37	chr1	46086576	46086576	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcaccacactcaccTgaggaatcccattcagctgc	7	18	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:46086576T>C	uc010olt.1	-	11	1746	c.1598A>G	c.(1597-1599)CAG>CGG	p.Q533R	CCDC17_uc009vxy.2_Missense_Mutation_p.Q501R|CCDC17_uc010ols.1_Missense_Mutation_p.Q524R|CCDC17_uc001com.3_Missense_Mutation_p.Q354R|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	533										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CACACTCACCTGAGGAATCCC	0.592													C	46086576	T	C	46086576	3	2	279	1	0	0	0	0	1	0	0	0	2793	1594	55	3	282	3	CCDC17	1	46086576	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	6098490	46086576	203164045	30	143023											
MAST2	23139	broad.mit.edu	37	chr1	46498028	46498028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccctgcgggccattcgCgtctacatgggtgactccga	11	14	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:46498028C>T	uc001cov.2	+	25	3649	c.3366C>T	c.(3364-3366)CGC>CGT	p.R1122R	MAST2_uc001cow.2_Silent_p.R1122R|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1122	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGGCCATTCGCGTCTACATGG	0.572													T	46498028	C	T	46498028	2	4	279	1	0	0	0	0	0	0	0	1	9325	755	27	1		1	MAST2	1	46498028	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	411452	46498028	202752593	31	143024											
C1orf190	541468	broad.mit.edu	37	chr1	46685377	46685377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccactcccccaggcttacCtgcgagccatcgatgtgaag	9	16	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:46685377C>A	uc010oma.1	+	2	298	c.205C>A	c.(205-207)CTG>ATG	p.L69M	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	69					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCAGGCTTACCTGCGAGCCAT	0.592													A	46685377	C	A	46685377	3	1	279	1	0	0	0	0	1	0	0	0	2023	680	24	5	211	5	C1orf190	1	46685377	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	187349	46685377	202565244	32	143025											
FAM151A	338094	broad.mit.edu	37	chr1	55075225	55075225	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcatatctgtgagcagctGttccctgtagccactgccca	9	13	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:55075225G>A	uc001cxn.2	-	8	1606	c.1474C>T	c.(1474-1476)CAG>TAG	p.Q492*	ACOT11_uc001cxj.1_3'UTR|ACOT11_uc001cxl.1_3'UTR|ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	492						integral to membrane					0						GTGAGCAGCTGTTCCCTGTAG	0.617													A	55075225	G	A	55075225	4	1	279	1	0	0	0	0	0	1	0	0	5458	1386	48	4	287	4	FAM151A	1	55075225	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8389848	55075225	194175396	33	143026											
LEPR	3953	broad.mit.edu	37	chr1	66102677	66102677	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cataagatcatggaaaacaaGatgtgtgacctaactgtgta	9	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:66102677G>T	uc001dci.2	+	20	3679	c.3477G>T	c.(3475-3477)AAG>AAT	p.K1159N	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1159	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGAAAACAAGATGTGTGACC	0.338													T	66102677	G	T	66102677	3	4	279	1	0	0	0	0	1	0	0	0	8728	933	33	5	3777	5	LEPR	1	66102677	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	11027452	66102677	183147944	34	143027											
DIRAS3	9077	broad.mit.edu	37	chr1	68512858	68512858	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaccagcggtgccgactacCacgacgcggtaatctctgat	10	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:68512858C>A	uc001ded.2	-	2	418	c.123G>T	c.(121-123)GTG>GTT	p.V41V	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	41					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			skin(1)	1						TGCCGACTACCACGACGCGGT	0.582													A	68512858	C	A	68512858	2	1	279	1	0	0	0	0	0	0	0	1	4532	581	21	5		5	DIRAS3	1	68512858	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2410181	68512858	180737763	35	143028											
FUBP1	8880	broad.mit.edu	37	chr1	78414859	78414859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtgctggaggatgcTgtggcattccctggggactt	16	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:78414859T>G	uc001dii.2	-	19	1996	c.1907A>C	c.(1906-1908)CAG>CCG	p.Q636P	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.Q657P	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	636					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						TGGAGGATGCTGTGGCATTCC	0.458													G	78414859	T	G	78414859	3	3	279	1	0	0	0	0	1	0	0	0	6092	1580	55	5	35	5	FUBP1	1	78414859	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	9902001	78414859	170835762	36	143029											
LPAR3	23566	broad.mit.edu	37	chr1	85331255	85331255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaaggtaactcctgctGtaaatgggggccagggaaga	13	7	0	1	rs144051702	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:85331255G>A	uc001dkl.2	-	1	588	c.549C>T	c.(547-549)TAC>TAT	p.Y183Y	LPAR3_uc009wcj.1_Silent_p.Y183Y	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	183	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5						AACTCCTGCTGTAAATGGGGG	0.537													A	85331255	G	A	85331255	2	1	279	1	0	0	0	0	0	0	0	1	8906	1372	48	4		4	LPAR3	1	85331255	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6916396	85331255	163919366	37	143030											
GBP6	163351	broad.mit.edu	37	chr1	89844152	89844152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgaatacctggagaAtgccttgaagctgattcaag	11	6	1	6			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:89844152A>G	uc001dnf.2	+	5	879	c.605A>G	c.(604-606)AAT>AGT	p.N202S	GBP6_uc010ost.1_Missense_Mutation_p.N72S	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	202							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TACCTGGAGAATGCCTTGAAG	0.488													G	89844152	A	G	89844152	3	3	279	1	0	0	0	0	1	0	0	0	6278	101	4	3	619	3	GBP6	1	89844152	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	4512897	89844152	159406469	38	143031											
LRRC8D	55144	broad.mit.edu	37	chr1	90399416	90399416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggctttaaattttcagcTgagaagcctgtgattgaagt	10	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:90399416T>C	uc001dnm.2	+	3	1214	c.789T>C	c.(787-789)GCT>GCC	p.A263A	LRRC8D_uc001dnn.2_Silent_p.A263A	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	263						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AATTTTCAGCTGAGAAGCCTG	0.478													C	90399416	T	C	90399416	2	2	279	1	0	0	0	0	0	0	0	1	9024	1567	55	3		3	LRRC8D	1	90399416	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	555264	90399416	158851205	39	143032											
ARHGAP29	9411	broad.mit.edu	37	chr1	94649826	94649827	+	Frame_Shift_Del	DEL	CA	CA	-													ttcagtttttattttgtttcCacacacacgataaattccct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:94649825_94649826CCA>C	uc001dqj.4	-	18	2497_2498	c.2128_2129TGG>G	c.(2128-2130)ggafs	p.G710fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Frame_Shift_Del_p.G276fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	710	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			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)		TATTTTGTTTCCACACACACGA	0.297													-	94649827	CA	-	94649826	7	5	279	1	0	1	0	1	0	0	0	0	878	603	21	0	1677	0	ARHGAP29	1	94649826	Frame_Shift_Del	DEL	CA	TCGA-HU-A4H3-01A-21D-A25D-08	4250410	94649826	154600795	40	143033											
KIAA1324	57535	broad.mit.edu	37	chr1	109741246	109741246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagatcaaccaccatccgCgtcaggtgcagtccacagaa	11	13	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:109741246C>T	uc001dwq.2	+	19	2587	c.2451C>T	c.(2449-2451)CGC>CGT	p.R817R	KIAA1324_uc009wex.1_Silent_p.R767R|KIAA1324_uc009wey.2_Silent_p.R730R|KIAA1324_uc010ovg.1_Silent_p.R715R|KIAA1324_uc001dwr.2_Silent_p.R467R|KIAA1324_uc001dws.1_RNA|KIAA1324_uc009wez.1_RNA	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	817	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		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)		CCACCATCCGCGTCAGGTGCA	0.532													T	109741246	C	T	109741246	2	4	279	1	0	0	0	0	0	0	0	1	8223	755	27	1		1	KIAA1324	1	109741246	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	15091420	109741246	139509375	41	143034											
EPS8L3	79574	broad.mit.edu	37	chr1	110301862	110301862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacccccgaccactcacccCcacttcctggcactggaaga	6	20	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:110301862C>A	uc001dyr.1	-	5	548	c.403G>T	c.(403-405)GGG>TGG	p.G135W	EPS8L3_uc001dys.1_Missense_Mutation_p.G135W|EPS8L3_uc001dyq.1_Missense_Mutation_p.G135W|EPS8L3_uc009wfm.1_Missense_Mutation_p.G101W|EPS8L3_uc009wfn.1_Missense_Mutation_p.G101W|EPS8L3_uc009wfo.1_Missense_Mutation_p.G82W	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	135						cytoplasm	protein binding			ovary(2)|skin(1)	3		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)		CCACTCACCCCCACTTCCTGG	0.493													A	110301862	C	A	110301862	3	1	279	1	0	0	0	0	1	0	0	0	5197	623	22	5	1441	5	EPS8L3	1	110301862	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	560616	110301862	138948759	42	143035											
AHCYL1	10768	broad.mit.edu	37	chr1	110551702	110551702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagttcaccaaattccccaCcaaaactggccgaagatctt	7	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:110551702C>T	uc001dyx.2	+	2	534	c.167C>T	c.(166-168)ACC>ATC	p.T56I	AHCYL1_uc010ovw.1_Missense_Mutation_p.T9I|AHCYL1_uc001dyy.2_Missense_Mutation_p.T9I|AHCYL1_uc010ovx.1_Missense_Mutation_p.T9I	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	56					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAATTCCCCACCAAAACTGGC	0.423													T	110551702	C	T	110551702	3	4	279	1	0	0	0	0	1	0	0	0	410	507	18	4	173	4	AHCYL1	1	110551702	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	249840	110551702	138698919	43	143036											
KCNC4	3749	broad.mit.edu	37	chr1	110754325	110754325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcctggctggccgacccCgacggcgggggccggcccga	17	18	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:110754325C>T	uc001dzh.2	+	1	261	c.204C>T	c.(202-204)CCC>CCT	p.P68P	KCNC4_uc001dzf.2_Silent_p.P68P|KCNC4_uc009wfr.2_Silent_p.P68P|KCNC4_uc001dzg.2_Silent_p.P68P|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	68	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGCCGACCCCGACGGCGGGG	0.527													T	110754325	C	T	110754325	2	4	279	1	0	0	0	0	0	0	0	1	8017	639	23	1		1	KCNC4	1	110754325	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	202623	110754325	138496296	44	143037											
OTUD7B	56957	broad.mit.edu	37	chr1	149916658	149916658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccagtgtctcagtgcCgctgcttcctcccaaccctg	7	18	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:149916658C>T	uc001etn.2	-	12	1986	c.1630G>A	c.(1630-1632)GGC>AGC	p.G544S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	544					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	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)			GTCTCAGTGCCGCTGCTTCCT	0.582													T	149916658	C	T	149916658	3	4	279	1	0	0	0	0	1	0	0	0	11319	652	23	1	905	1	OTUD7B	1	149916658	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	39162333	149916658	99333963	45	143038											
PSMB4	5692	broad.mit.edu	37	chr1	151373273	151373273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacatgcttggtgtagcCtatgaagccccttcgctggc	13	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:151373273C>T	uc001eyc.1	+	4	551	c.528C>T	c.(526-528)GCC>GCT	p.A176A	PSMB4_uc010pda.1_3'UTR|PSMB4_uc001eyb.1_3'UTR	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	176					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			ovary(2)	2	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)			TTGGTGTAGCCTATGAAGCCC	0.323													T	151373273	C	T	151373273	2	4	279	1	0	0	0	0	0	0	0	1	12679	668	24	4		4	PSMB4	1	151373273	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1456615	151373273	97877348	46	143039											
INTS3	65123	broad.mit.edu	37	chr1	153740271	153740271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaggacgatgtgcggctcCtgtgccacctcacgccctcc	12	16	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:153740271C>A	uc009wom.2	+	22	2433	c.2212C>A	c.(2212-2214)CTG>ATG	p.L738M	INTS3_uc001fct.2_Missense_Mutation_p.L738M|INTS3_uc001fcu.2_Missense_Mutation_p.L430M|INTS3_uc001fcv.2_Missense_Mutation_p.L532M|INTS3_uc010peb.1_Missense_Mutation_p.L532M|INTS3_uc001fcw.2_Missense_Mutation_p.L251M|INTS3_uc010pec.1_Missense_Mutation_p.L251M|INTS3_uc001fcy.2_Missense_Mutation_p.L35M|INTS3_uc001fcx.2_Missense_Mutation_p.L35M	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	739					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	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)			TGTGCGGCTCCTGTGCCACCT	0.592													A	153740271	C	A	153740271	3	1	279	1	0	0	0	0	1	0	0	0	7779	680	24	5	2294	5	INTS3	1	153740271	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2366998	153740271	95510350	47	143040											
GATAD2B	57459	broad.mit.edu	37	chr1	153785764	153785764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacaaatgcatttttcaGccggttggtgtgttcagctt	9	8	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:153785764G>A	uc001fdb.3	-	8	1625	c.1381C>T	c.(1381-1383)CTG>TTG	p.L461L		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	461	Potential.|GATA-type.|CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCATTTTTCAGCCGGTTGGTG	0.473													A	153785764	G	A	153785764	2	1	279	1	0	0	0	0	0	0	0	1	6261	962	34	2		2	GATAD2B	1	153785764	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	45493	153785764	95464857	48	143041											
ASH1L	55870	broad.mit.edu	37	chr1	155340428	155340428	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgtgattatgatactgctCaatcatcctgttcctaaaga	6	9	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:155340428C>G	uc009wqq.2	-	12	7048	c.6568G>C	c.(6568-6570)GAG>CAG	p.E2190Q	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2185Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2190	SET.				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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			TGATACTGCTCAATCATCCTG	0.393													G	155340428	C	G	155340428	3	3	279	1	0	0	0	0	1	0	0	0	1041	835	29	5	2409	5	ASH1L	1	155340428	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1554664	155340428	93910193	49	143042											
GON4L	54856	broad.mit.edu	37	chr1	155735282	155735282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctctagcttcttcaggttCcatcttgacaatttcctcta	4	13	5	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:155735282C>T	uc001flz.2	-	21	4079	c.3982G>A	c.(3982-3984)GAA>AAA	p.E1328K	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.E1328K|GON4L_uc009wrh.1_Missense_Mutation_p.E1328K|GON4L_uc001fma.1_Missense_Mutation_p.E1328K|GON4L_uc001fmb.3_Missense_Mutation_p.E524K|GON4L_uc001fmc.2_Missense_Mutation_p.E1328K|GON4L_uc001fmd.3_Missense_Mutation_p.E1328K|GON4L_uc009wri.2_Missense_Mutation_p.E914K	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1328					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTTCAGGTTCCATCTTGACA	0.517													T	155735282	C	T	155735282	3	4	279	1	0	0	0	0	1	0	0	0	6572	864	30	4	2905	4	GON4L	1	155735282	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	394854	155735282	93515339	50	143043											
UBQLN4	56893	broad.mit.edu	37	chr1	156013976	156013976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggaggatgagctgtcGgagttcccggccagggaaga	19	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:156013976G>A	uc001fna.2	-	6	963	c.939C>T	c.(937-939)TCC>TCT	p.S313S	UBQLN4_uc010pgx.1_Silent_p.S293S	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	313						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					ATGAGCTGTCGGAGTTCCCGG	0.627													A	156013976	G	A	156013976	2	1	279	1	0	0	0	0	0	0	0	1	16896	1103	39	1		1	UBQLN4	1	156013976	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	278694	156013976	93236645	51	143044											
PRCC	5546	broad.mit.edu	37	chr1	156756452	156756452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttccccaacctaaaaaccTgactgtgaaagagactaaca	6	12	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:156756452T>C	uc001fqa.2	+	3	859	c.569T>C	c.(568-570)CTG>CCG	p.L190P	PRCC_uc001fqb.2_Missense_Mutation_p.L190P	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	190					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTAAAAACCTGACTGTGAAA	0.542			T	TFE3	papillary renal 								C	156756452	T	C	156756452	3	2	279	1	0	0	0	0	1	0	0	0	12447	1580	55	3	579	3	PRCC	1	156756452	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	742476	156756452	92494169	52	143045											
PEAR1	375033	broad.mit.edu	37	chr1	156877817	156877817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattcactgggcagtgccgCtgcgctccgggttacactgg	14	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:156877817C>T	uc001fqj.1	+	8	992	c.876C>T	c.(874-876)CGC>CGT	p.R292R	PEAR1_uc009wsl.1_Silent_p.R93R|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	292	EGF-like 3.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGTGCCGCTGCGCTCCGG	0.697													T	156877817	C	T	156877817	2	4	279	1	0	0	0	0	0	0	0	1	11712	784	28	2		2	PEAR1	1	156877817	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	121365	156877817	92372804	53	143046											
FCRL5	83416	broad.mit.edu	37	chr1	157490981	157490981	+	Frame_Shift_Del	DEL	G	G	-													aaaaaaccggtacaggatcaGgggagagcctctcagggcct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:157490981delG	uc001fqu.2	-	11	2499	c.2341delC	c.(2341-2343)CTGfs	p.L781fs	FCRL5_uc009wsm.2_Frame_Shift_Del_p.L781fs	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	781	Extracellular (Potential).|Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TACAGGATCAGGGGAGAGCCT	0.612													-	157490981	G	-	157490981	7	5	279	1	0	1	0	1	0	0	0	0	5798	991	35	0	620	0	FCRL5	1	157490981	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	613164	157490981	91759640	54	143047											
SPTA1	6708	broad.mit.edu	37	chr1	158639341	158639341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcacgtagggcatcccGccgggctaacagctgcaaaa	10	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:158639341G>A	uc001fst.1	-	14	1889	c.1690C>T	c.(1690-1692)CGG>TGG	p.R564W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	564	Spectrin 6.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGGGCATCCCGCCGGGCTAAC	0.488													A	158639341	G	A	158639341	3	1	279	1	0	0	0	0	1	0	0	0	15115	1086	38	1	5725	1	SPTA1	1	158639341	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1148360	158639341	90611280	55	143048											
NIT1	4817	broad.mit.edu	37	chr1	161090341	161090342	+	Frame_Shift_Del	DEL	CA	CA	-													gtgctatgtagtggcagcagCacagtgtggacgccaccatg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:161090341_161090342delCA	uc001fxv.1	+	7	846_847	c.770_771delCA	c.(769-771)GCAfs	p.A257fs	PFDN2_uc001fxu.2_5'Flank|NIT1_uc001fxw.2_Intron|NIT1_uc001fxx.1_Frame_Shift_Del_p.A221fs|NIT1_uc001fxy.1_Frame_Shift_Del_p.A221fs|NIT1_uc010pka.1_Frame_Shift_Del_p.A242fs	NM_005600	NP_005591	Q86X76	NIT1_HUMAN	nitrilase 1	257	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGGCAGCAGCACAGTGTGGAC	0.574													-	161090342	CA	-	161090341	7	5	279	1	0	1	0	1	0	0	0	0	10433	710	25	0	853	0	NIT1	1	161090341	Frame_Shift_Del	DEL	CA	TCGA-HU-A4H3-01A-21D-A25D-08	2451000	161090341	88160280	56	143049											
DUSP27	92235	broad.mit.edu	37	chr1	167096269	167096269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggagagaagccGgcagacgctggaggagagcc	19	9	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:167096269G>A	uc001geb.1	+	5	1901	c.1901G>A	c.(1900-1902)CGG>CAG	p.R634Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	634					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GAGAGAAGCCGGCAGACGCTG	0.637													A	167096269	G	A	167096269	3	1	279	1	0	0	0	0	1	0	0	0	4824	1116	39	1	1919	1	DUSP27	1	167096269	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6005928	167096269	82154352	57	143050											
ADCY10	55811	broad.mit.edu	37	chr1	167778932	167778932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttagaaatgattgtccaCggtattagctctcatcagga	9	7	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:167778932C>T	uc001ger.2	-	33	5114	c.4816G>A	c.(4816-4818)GTG>ATG	p.V1606M	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.V1514M|ADCY10_uc010plj.1_Missense_Mutation_p.V1453M	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1606					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TGATTGTCCACGGTATTAGCT	0.388													T	167778932	C	T	167778932	3	4	279	1	0	0	0	0	1	0	0	0	293	536	19	1	20	1	ADCY10	1	167778932	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	682663	167778932	81471689	58	143051											
SLC9A11	284525	broad.mit.edu	37	chr1	173516835	173516835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcaccaaccatttgtAttgcagctacatgcaatctg	7	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:173516835A>G	uc001giz.2	-	13	1973	c.1550T>C	c.(1549-1551)ATA>ACA	p.I517T	SLC9A11_uc009wwe.2_Missense_Mutation_p.I75T|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	517					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						AACCATTTGTATTGCAGCTAC	0.363													G	173516835	A	G	173516835	3	3	279	1	0	0	0	0	1	0	0	0	14711	449	16	3	1888	3	SLC9A11	1	173516835	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	5737903	173516835	75733786	59	143052											
PAPPA2	60676	broad.mit.edu	37	chr1	176762727	176762727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccattgtgtgtaatcccCcccagtgaccccgtgatgct	8	16	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:176762727C>T	uc001gkz.2	+	20	6216	c.5052C>T	c.(5050-5052)CCC>CCT	p.P1684P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1684	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GTGTAATCCCCCCCAGTGACC	0.468													T	176762727	C	T	176762727	2	4	279	1	0	0	0	0	0	0	0	1	11433	610	22	4		4	PAPPA2	1	176762727	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3245892	176762727	72487894	60	143053											
ASTN1	460	broad.mit.edu	37	chr1	177133715	177133715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgagcttgcactccAgctccttggatggatccacg	10	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:177133715A>G	uc001glc.2	-	1	310	c.98T>C	c.(97-99)CTG>CCG	p.L33P	ASTN1_uc001glb.1_Missense_Mutation_p.L33P|ASTN1_uc001gld.1_Missense_Mutation_p.L33P|ASTN1_uc009wwx.1_Missense_Mutation_p.L33P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	33					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CTTGCACTCCAGCTCCTTGGA	0.677													G	177133715	A	G	177133715	3	3	279	1	0	0	0	0	1	0	0	0	1064	188	7	3	3882	3	ASTN1	1	177133715	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	370988	177133715	72116906	61	143054											
ASPM	259266	broad.mit.edu	37	chr1	197069737	197069737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccactgctgcttttctatAtagtaaaaactgttttctgg	6	8	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:197069737A>G	uc001gtu.2	-	18	8901	c.8644T>C	c.(8644-8646)TAT>CAT	p.Y2882H	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Y730H	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2882	IQ 32.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GCTTTTCTATATAGTAAAAAC	0.368													G	197069737	A	G	197069737	3	3	279	1	0	0	0	0	1	0	0	0	1056	449	16	3	1833	3	ASPM	1	197069737	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	19936022	197069737	52180884	62	143055											
DDX59	83479	broad.mit.edu	37	chr1	200635327	200635327	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttaagattttcaatcTggtcttcctgaaggttcaaa	8	7	4	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:200635327T>G	uc009wzk.2	-	2	785	c.542A>C	c.(541-543)CAG>CCG	p.Q181P	DDX59_uc010ppl.1_Missense_Mutation_p.Q181P	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	181						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ATTTTCAATCTGGTCTTCCTG	0.438													G	200635327	T	G	200635327	3	3	279	1	0	0	0	0	1	0	0	0	4376	1580	55	5	1345	5	DDX59	1	200635327	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3565590	200635327	48615294	63	143056											
PKP1	5317	broad.mit.edu	37	chr1	201252870	201252870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccgccttggcgtacgaaTgcttccaggaccaggacaac	11	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:201252870T>C	uc001gwd.2	+	1	291	c.40T>C	c.(40-42)TGC>CGC	p.C14R	PKP1_uc001gwe.2_Missense_Mutation_p.C14R|PKP1_uc009wzm.2_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	14					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			ovary(2)	2						GGCGTACGAATGCTTCCAGGA	0.642													C	201252870	T	C	201252870	3	2	279	1	0	0	0	0	1	0	0	0	11984	1464	51	3	42	3	PKP1	1	201252870	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	617543	201252870	47997751	64	143057											
TMCC2	9911	broad.mit.edu	37	chr1	205238321	205238321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacaagcagcaggtgtcaCgcatcaagcaagtgttcgag	13	10	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:205238321C>T	uc001hbz.1	+	4	1435	c.991C>T	c.(991-993)CGC>TGC	p.R331C	TMCC2_uc010prf.1_Missense_Mutation_p.R253C|TMCC2_uc001hca.2_Missense_Mutation_p.R106C|TMCC2_uc001hcb.1_Missense_Mutation_p.R91C|TMCC2_uc001hcc.1_Translation_Start_Site|TMCC2_uc001hcd.2_Missense_Mutation_p.R98C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	331						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCAGGTGTCACGCATCAAGCA	0.557													T	205238321	C	T	205238321	3	4	279	1	0	0	0	0	1	0	0	0	15990	536	19	1	1001	1	TMCC2	1	205238321	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3985451	205238321	44012300	65	143058											
LAMB3	3914	broad.mit.edu	37	chr1	209807792	209807792	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaggattccctctacctacCttccccccatttaggcgtgc	6	17	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:209807792C>G	uc001hhg.2	-	5	954	c.564G>C	c.(562-564)AAG>AAC	p.K188N	LAMB3_uc009xco.2_Missense_Mutation_p.K188N|LAMB3_uc001hhh.2_Missense_Mutation_p.K188N|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	188	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTACCTACCTTCCCCCCAT	0.602													G	209807792	C	G	209807792	3	3	279	1	0	0	0	0	1	0	0	0	8612	695	24	5	3026	5	LAMB3	1	209807792	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4569471	209807792	39442829	66	143059											
USH2A	7399	broad.mit.edu	37	chr1	215848449	215848449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacataggatatcacaggTggagagagaccttctggagg	14	6	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:215848449T>C	uc001hku.1	-	63	13191	c.12804A>G	c.(12802-12804)CCA>CCG	p.P4268P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4268	Fibronectin type-III 28.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		atatcacaggtggagagagac	0.348										HNSCC(13;0.011)			C	215848449	T	C	215848449	2	2	279	1	0	0	0	0	0	0	0	1	17033	1683	59	3		3	USH2A	1	215848449	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	6040657	215848449	33402172	67	143060											
LBR	3930	broad.mit.edu	37	chr1	225591060	225591060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacagtacttttcccaaGccacgccgtatttcttctta	6	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:225591060G>A	uc001hoy.2	-	14	1936	c.1793C>T	c.(1792-1794)GCT>GTT	p.A598V	LBR_uc001hoz.2_Missense_Mutation_p.A598V	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	598					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CTTTTCCCAAGCCACGCCGTA	0.433													A	225591060	G	A	225591060	3	1	279	1	0	0	0	0	1	0	0	0	8652	971	34	2	58	2	LBR	1	225591060	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	9742611	225591060	23659561	68	143061											
CABC1	56997	broad.mit.edu	37	chr1	227171866	227171866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcagcccacatgtgcTgaccacagagctggtgtctg	12	13	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:227171866T>C	uc001hqm.1	+	16	4747	c.1328T>C	c.(1327-1329)CTG>CCG	p.L443P	CABC1_uc001hqn.1_Missense_Mutation_p.L443P|CABC1_uc009xeq.1_Missense_Mutation_p.L391P|CABC1_uc010pvq.1_Missense_Mutation_p.L164P|CABC1_uc010pvr.1_Missense_Mutation_p.L117P|CABC1_uc001hqo.1_Missense_Mutation_p.L164P|CABC1_uc009xer.1_5'UTR	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	443	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CCACATGTGCTGACCACAGAG	0.622													C	227171866	T	C	227171866	3	2	279	1	0	0	0	0	1	0	0	0	2527	1580	55	3	1366	3	CABC1	1	227171866	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1580806	227171866	22078755	69	143062											
GJC2	57165	broad.mit.edu	37	chr1	228346746	228346746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagaagggcagtgccagCagcagggacgggaagaccac	16	11	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:228346746C>T	uc001hsk.2	+	2	1462	c.1287C>T	c.(1285-1287)AGC>AGT	p.S429S		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	429	Cytoplasmic (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GCAGTGCCAGCAGCAGGGACG	0.716													T	228346746	C	T	228346746	2	4	279	1	0	0	0	0	0	0	0	1	6415	709	25	2		2	GJC2	1	228346746	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1174880	228346746	20903875	70	143063											
OBSCN	84033	broad.mit.edu	37	chr1	228464704	228464704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggttaccctggagtgCgagctgtcgcgtcctaatgt	14	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:228464704C>T	uc009xez.1	+	23	6605	c.6561C>T	c.(6559-6561)TGC>TGT	p.C2187C	OBSCN_uc001hsn.2_Silent_p.C2187C|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2187	Ig-like 22.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCCTGGAGTGCGAGCTGTCGC	0.647													T	228464704	C	T	228464704	2	4	279	1	0	0	0	0	0	0	0	1	10812	776	27	1		1	OBSCN	1	228464704	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	117958	228464704	20785917	71	143064											
OBSCN	84033	broad.mit.edu	37	chr1	228560646	228560646	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcaggaagcgcaagtgGtcctcgccgtcacgcagcct	15	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:228560646G>C	uc009xez.1	+	94	22211	c.22167G>C	c.(22165-22167)TGG>TGC	p.W7389C	OBSCN_uc001hsr.1_Missense_Mutation_p.W2018C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7389					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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGCGCAAGTGGTCCTCGCCGT	0.667													C	228560646	G	C	228560646	3	2	279	1	0	0	0	0	1	0	0	0	10812	1270	44	5	23747	5	OBSCN	1	228560646	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	95942	228560646	20689975	72	143065											
URB2	9816	broad.mit.edu	37	chr1	229772726	229772726	+	Frame_Shift_Del	DEL	A	A	-													agaggcatacatcacactggAaaaaatatccaaagccttcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:229772725_229772725GA>G	uc001hts.1	+	3	2501	c.2365_2365GA>G	c.(2365-2367)gaafs	p.E789fs	URB2_uc009xfd.1_Frame_Shift_Del_p.E789fs	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	789						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						CATCACACTGGAAAAAATATC	0.473													-	229772726	A	-	229772726	7	5	279	1	0	1	0	1	0	0	0	0	17022	246	9	0	2376	0	URB2	1	229772726	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	1212080	229772726	19477895	73	143066											
PCNXL2	80003	broad.mit.edu	37	chr1	233120211	233120211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcagggggctcacatgGctcggagaggtgcttccaaa	15	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:233120211G>A	uc001hvl.2	-	34	6488	c.6253C>T	c.(6253-6255)CCA>TCA	p.P2085S	PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	2085						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GGCTCACATGGCTCGGAGAGG	0.582													A	233120211	G	A	233120211	3	1	279	1	0	0	0	0	1	0	0	0	11592	1203	42	2	164	2	PCNXL2	1	233120211	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3347485	233120211	16130410	74	143067											
KIAA1804	84451	broad.mit.edu	37	chr1	233514948	233514948	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccgtccttctggcatcGgtggctctgggactggacct	13	13	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:233514948G>T	uc001hvt.3	+	9	2457	c.2196G>T	c.(2194-2196)TCG>TCT	p.S732S	KIAA1804_uc001hvu.3_Silent_p.S178S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	732					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTCTGGCATCGGTGGCTCTGG	0.522													T	233514948	G	T	233514948	2	4	279	1	0	0	0	0	0	0	0	1	8259	1103	39	5		5	KIAA1804	1	233514948	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	394737	233514948	15735673	75	143068											
SLC35F3	148641	broad.mit.edu	37	chr1	234367306	234367306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggcgtggcggtcgtgCtgtgcgtgtgctcctcgtgg	19	10	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:234367306C>T	uc001hwa.1	+	2	448	c.220C>T	c.(220-222)CTG>TTG	p.L74L	SLC35F3_uc001hvy.1_Silent_p.L143L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	74	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGCGGTCGTGCTGTGCGTGTG	0.687													T	234367306	C	T	234367306	2	4	279	1	0	0	0	0	0	0	0	1	14590	796	28	2		2	SLC35F3	1	234367306	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	852358	234367306	14883315	76	143069											
B3GALNT2	148789	broad.mit.edu	37	chr1	235613601	235613603	+	In_Frame_Del	DEL	GAG	GAG	-													cagttcccacggagaatactGaggagaagacagcattcctg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:235613601_235613603delGAG	uc001hxc.2	-	12	1650_1652	c.1421_1423delCTC	c.(1420-1425)CCTCAG>CAG	p.P474del		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	474	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GGAGAATACTGAGGAGAAGACAG	0.478													-	235613603	GAG	-	235613601	7	5	279	1	0	1	0	1	0	0	0	0	1246	1299	45	0	83	0	B3GALNT2	1	235613601	In_Frame_Del	DEL	GAG	TCGA-HU-A4H3-01A-21D-A25D-08	1246295	235613601	13637020	77	143070											
ACTN2	88	broad.mit.edu	37	chr1	236925859	236925859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcgggcccaggcagtgtGcctggtgcactggattacgc	14	12	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:236925859G>A	uc001hyf.2	+	21	2829	c.2625G>A	c.(2623-2625)GTG>GTA	p.V875V	ACTN2_uc001hyg.2_Silent_p.V667V|ACTN2_uc009xgi.1_Silent_p.V875V|ACTN2_uc010pxu.1_Silent_p.V564V|ACTN2_uc001hyh.2_Silent_p.V563V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	875					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			ovary(4)|skin(1)	5	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)			CAGGCAGTGTGCCTGGTGCAC	0.592													A	236925859	G	A	236925859	2	1	279	1	0	0	0	0	0	0	0	1	205	1306	46	2		2	ACTN2	1	236925859	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1312258	236925859	12324762	78	143071											
OPN3	23596	broad.mit.edu	37	chr1	241767800	241767801	+	Frame_Shift_Ins	INS	-	-	A													aatggccctccaggcccaggINSaaaaattgatcactctggca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:241767800_241767801insA	uc001hza.2	-	2	599_600	c.454_455insT	c.(454-456)TCCfs	p.S152fs	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_Intron	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	152	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGGCCCAGGAAAAATTGATC	0.54													A	241767801	-	A	241767800	7	5	279	1	0	1	1	0	0	0	0	0	10881	1174	41	0	765	0	OPN3	1	241767800	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	4841941	241767800	7482821	79	143072	758	2									
OPN3	23596	broad.mit.edu	37	chr1	241767801	241767802	+	Frame_Shift_Ins	INS	-	-	A													atggccctccaggcccaggaINSaaaattgatcactctggcat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:241767800_241767801G>GA	uc001hza.3	-	1	599_600	c.454_455C>TC	c.(454-456)tccfs	p.S152fs	OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Intron	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	152					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)			CCAGGCCCAGGAAAAATTGATC	0.54													A	241767802	-	A	241767801	7	5	279	1	0	1	1	0	0	0	0	0	10881	246	9	0	766	0	OPN3	1	241767801	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	241767801	7482820	80	143073	758	2									
PPPDE1	51029	broad.mit.edu	37	chr1	244855310	244855310	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcaatcatttttcttcAgctttatcagaggtaagcta	6	8	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:244855310A>G	uc001iao.2	+	4	603	c.339A>G	c.(337-339)TCA>TCG	p.S113S	PPPDE1_uc001iap.2_Silent_p.S80S	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	113	PPPDE peptidase.									breast(3)	3						ATTTTTCTTCAGCTTTATCAG	0.294													G	244855310	A	G	244855310	2	3	279	1	0	0	0	0	0	0	0	1	12408	175	7	3		3	PPPDE1	1	244855310	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	3087509	244855310	4395311	81	143074											
CNST	163882	broad.mit.edu	37	chr1	246810999	246810999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggaaaatcaccacaggCgcaggctgactcagacggtt	12	10	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:246810999C>T	uc001ibp.2	+	9	1874	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	CNST_uc001ibo.3_Missense_Mutation_p.A499V	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	499					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TCACCACAGGCGCAGGCTGAC	0.478													T	246810999	C	T	246810999	3	4	279	1	0	0	0	0	1	0	0	0	3634	768	27	1	1526	1	CNST	1	246810999	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1955689	246810999	2439622	82	143075											
TRIM58	25893	broad.mit.edu	37	chr1	248028188	248028188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggccctgaaggagctggCggatgagctgcaggagaggt	18	8	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:248028188C>T	uc001ido.2	+	3	746	c.698C>T	c.(697-699)GCG>GTG	p.A233V		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	233	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGAGCTGGCGGATGAGCTG	0.672													T	248028188	C	T	248028188	3	4	279	1	0	0	0	0	1	0	0	0	16528	768	27	1	708	1	TRIM58	1	248028188	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1217189	248028188	1222433	83	143076											
OR2T33	391195	broad.mit.edu	37	chr1	248436842	248436842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacaccacagccagcgCgggagatggccttacttccg	11	15	1	1	rs151096305	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr1:248436842C>T	uc010pzi.1	-	1	275	c.275G>A	c.(274-276)CGC>CAC	p.R92H		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	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)			ACAGCCAGCGCGGGAGATGGC	0.572													T	248436842	C	T	248436842	3	4	279	1	0	0	0	0	1	0	0	0	11024	768	27	1	690	1	OR2T33	1	248436842	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	408654	248436842	813779	84	143077											
KIDINS220	57498	broad.mit.edu	37	chr2	8919071	8919071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatttgttgctgaagttaCgagaaattttcttgcattgc	8	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:8919071C>T	uc002qzc.2	-	19	2751	c.2569G>A	c.(2569-2571)GTA>ATA	p.V857I	KIDINS220_uc010yiv.1_Missense_Mutation_p.V623I|KIDINS220_uc002qzd.2_Missense_Mutation_p.V815I|KIDINS220_uc010yiw.1_Missense_Mutation_p.V858I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	857	KAP NTPase.|Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCTGAAGTTACGAGAAATTTT	0.393													T	8919071	C	T	8919071	3	4	279	1	0	0	0	0	1	0	0	0	8271	536	19	1	2794	1	KIDINS220	2	8919071	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08		8919071	234280302	85	143078											
ASXL2	55252	broad.mit.edu	37	chr2	25991624	25991624	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaccaggtttggcaggTacagagtcactggctgcttt	12	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:25991624T>C	uc002rgs.2	-	6	839	c.618A>G	c.(616-618)GTA>GTG	p.V206V	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	206	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGGCAGGTACAGAGTCAC	0.363													C	25991624	T	C	25991624	2	2	279	1	0	0	0	0	0	0	0	1	1067	1625	57	3		3	ASXL2	2	25991624	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	17072553	25991624	217207749	86	143079											
GTF3C2	2976	broad.mit.edu	37	chr2	27560874	27560874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccattcctcggcagTgtggtttctgtttctgagga	14	8	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:27560874T>C	uc002rjv.1	-	6	1232	c.869A>G	c.(868-870)CAC>CGC	p.H290R	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.H301R|GTF3C2_uc002rjw.1_Missense_Mutation_p.H290R|GTF3C2_uc010eyz.1_Missense_Mutation_p.H290R	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	290						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCGGCAGTGTGGTTTCTG	0.458													C	27560874	T	C	27560874	3	2	279	1	0	0	0	0	1	0	0	0	6873	1696	59	3	1926	3	GTF3C2	2	27560874	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1569250	27560874	215638499	87	143080											
EIF2B4	8890	broad.mit.edu	37	chr2	27591960	27591960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctgtttcagggcccgctCggcctcctgcttggctcgac	12	16	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:27591960C>T	uc002rkb.2	-	4	474	c.331G>A	c.(331-333)GAG>AAG	p.E111K	EIF2B4_uc002rjz.2_Missense_Mutation_p.E131K|EIF2B4_uc002rka.2_Missense_Mutation_p.E96K|EIF2B4_uc002rkc.2_Missense_Mutation_p.E110K|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Missense_Mutation_p.E80K|EIF2B4_uc002rkf.1_Missense_Mutation_p.E80K|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	111					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCCCGCTCGGCCTCCTGC	0.607													T	27591960	C	T	27591960	3	4	279	1	0	0	0	0	1	0	0	0	5003	893	31	1	1280	1	EIF2B4	2	27591960	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	31086	27591960	215607413	88	143081											
HNRPLL	92906	broad.mit.edu	37	chr2	38818748	38818748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagtcctcgaacatggaCgacgggtgaaacagaaactt	11	9	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:38818748C>T	uc002rqw.2	-	2	642	c.232G>A	c.(232-234)GTC>ATC	p.V78I	HNRPLL_uc002rqx.2_Missense_Mutation_p.V73I	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	78	RRM 1.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			skin(1)	1		all_hematologic(82;0.248)				CGAACATGGACGACGGGTGAA	0.383													T	38818748	C	T	38818748	3	4	279	1	0	0	0	0	1	0	0	0	7277	536	19	1	1444	1	HNRPLL	2	38818748	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	11226788	38818748	204380625	89	143082											
DHX57	90957	broad.mit.edu	37	chr2	39088771	39088771	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattctttctataaatttttCtccacagatggacttgagag	6	7	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:39088771C>A	uc002rrf.2	-	5	880	c.781G>T	c.(781-783)GAA>TAA	p.E261*	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Nonsense_Mutation_p.E261*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	261							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				ATAAATTTTTCTCCACAGATG	0.428													A	39088771	C	A	39088771	4	1	279	1	0	0	0	0	0	1	0	0	4513	922	32	5	3459	5	DHX57	2	39088771	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	270023	39088771	204110602	90	143083											
SLC3A1	6519	broad.mit.edu	37	chr2	44547361	44547361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagactcagcccagatcGgctttgaagttatatcaaga	8	9	2	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:44547361G>A	uc002ruc.3	+	10	1719	c.1641G>A	c.(1639-1641)TCG>TCA	p.S547S	PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.S269S|SLC3A1_uc002rue.3_Silent_p.S167S	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	547	Extracellular (Potential).				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				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AGCCCAGATCGGCTTTGAAGT	0.348													A	44547361	G	A	44547361	2	1	279	1	0	0	0	0	0	0	0	1	14626	1103	39	1		1	SLC3A1	2	44547361	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5458590	44547361	198652012	91	143084											
SRBD1	55133	broad.mit.edu	37	chr2	45826751	45826752	+	Frame_Shift_Ins	INS	-	-	C													ttccttcttgcatgtacctcINScccacacagtgcttgtggat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:45826750_45826751T>TC	uc002rus.3	-	3	561_562	c.485_486A>GA	c.(484-486)ggafs	p.G162fs		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	162					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			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)			TGCATGTACCTCCCCACACAGT	0.446													C	45826752	-	C	45826751	7	5	279	1	0	1	1	0	0	0	0	0	15132	855	30	0	2574	0	SRBD1	2	45826751	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1279390	45826751	197372622	92	143085											
MSH6	2956	broad.mit.edu	37	chr2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C													attctgttgccggaagatacINScccccccttcttagagctta					rs63749866		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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)|p.F1088fs*5(1)|p.F1088fs*2(1)		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)			GCCGGAAGATACCCCCCCCTTC	0.436			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	48030641	-	C	48030640	7	5	279	1	0	1	1	0	0	0	0	0	9874	507	18	0	3272	0	MSH6	2	48030640	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	2203889	48030640	195168733	93	143086											
NRXN1	9378	broad.mit.edu	37	chr2	51254651	51254651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccttaccttggctgcagTccttgccgcggaagccggtt	14	13	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:51254651T>C	uc010fbq.2	-	2	2238	c.761A>G	c.(760-762)GAC>GGC	p.D254G	NRXN1_uc002rxe.3_Missense_Mutation_p.D254G|NRXN1_uc002rxd.1_Missense_Mutation_p.D254G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGGCTGCAGTCCTTGCCGCG	0.721													C	51254651	T	C	51254651	3	2	279	1	0	0	0	0	1	0	0	0	10665	1667	58	3	4237	3	NRXN1	2	51254651	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3224011	51254651	191944722	94	143087											
CHAC2	494143	broad.mit.edu	37	chr2	53999079	53999079	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcttgttgaagatcctgcGgtatggtataaatattcttt	8	6	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:53999079G>T	uc002rxk.1	+	2	266	c.171G>T	c.(169-171)GCG>GCT	p.A57A	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	57											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGATCCTGCGGTATGGtata	0.259													T	53999079	G	T	53999079	2	4	279	1	0	0	0	0	0	0	0	1	3309	1130	39	5		5	CHAC2	2	53999079	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2744428	53999079	189200294	95	143088											
ERLEC1	27248	broad.mit.edu	37	chr2	54023109	54023109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggccctaatccaagagagCttttggagccactatttaaa	8	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:54023109C>A	uc002rxl.2	+	3	587	c.307C>A	c.(307-309)CTT>ATT	p.L103I	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.L103I|ERLEC1_uc002rxn.2_Missense_Mutation_p.L103I	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	103					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						TCCAAGAGAGCTTTTGGAGCC	0.343													A	54023109	C	A	54023109	3	1	279	1	0	0	0	0	1	0	0	0	5231	797	28	5	317	5	ERLEC1	2	54023109	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	24030	54023109	189176264	96	143089											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	279	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	144031	54167140	189032233	97	143090											
CCDC88A	55704	broad.mit.edu	37	chr2	55561433	55561433	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatttctgcttgttgtcGgagtctcttattttccttct	6	8	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:55561433G>A	uc002ryv.2	-	15	3366	c.2524C>T	c.(2524-2526)CGA>TGA	p.R842*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.R842*|CCDC88A_uc010ypa.1_Nonsense_Mutation_p.R842*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.R744*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.R125*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.R125*	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	842	Potential.				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			ovary(2)|skin(2)	4						GCTTGTTGTCGGAGTCTCTTA	0.318													A	55561433	G	A	55561433	4	1	279	1	0	0	0	0	0	1	0	0	2863	1124	39	1	3163	1	CCDC88A	2	55561433	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1394293	55561433	187637940	98	143091											
SMEK2	57223	broad.mit.edu	37	chr2	55791531	55791531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccactggtgccacaactgcTtttccttcctcttcttcatc	4	16	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:55791531T>G	uc002rzc.2	-	15	2553	c.2178A>C	c.(2176-2178)AAA>AAC	p.K726N	SMEK2_uc002rzb.2_Missense_Mutation_p.K641N|SMEK2_uc002rzd.2_Missense_Mutation_p.K694N|SMEK2_uc002ryz.2_Missense_Mutation_p.K153N|SMEK2_uc002rza.2_Missense_Mutation_p.K510N	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	726						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCACAACTGCTTTTCCTTCCT	0.358													G	55791531	T	G	55791531	3	3	279	1	0	0	0	0	1	0	0	0	14794	1606	56	5	383	5	SMEK2	2	55791531	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	230098	55791531	187407842	99	143092											
SMEK2	57223	broad.mit.edu	37	chr2	55808823	55808825	+	In_Frame_Del	DEL	AAG	AAG	-													tgttcaattaccacattaatAagaagaatatcctggtggca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:55808822_55808824TAAG>T	uc002rzc.3	-	7	1936_1938	c.1244_1246CTTA>A	c.(1243-1248)cttatt>cAtt	p.415_416LI>H	SMEK2_uc002rzb.3_In_Frame_Del_p.415_416LI>H|SMEK2_uc002rzd.3_In_Frame_Del_p.415_416LI>H|SMEK2_uc002rza.3_In_Frame_Del_p.291_292LI>H	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	415						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACATTAATAAGAAGAATATC	0.374													-	55808825	AAG	-	55808823	7	5	279	1	0	1	0	1	0	0	0	0	14794	349	13	0	1344	0	SMEK2	2	55808823	In_Frame_Del	DEL	AAG	TCGA-HU-A4H3-01A-21D-A25D-08	17292	55808823	187390550	100	143093											
NAGK	55577	broad.mit.edu	37	chr2	71299880	71299880	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatgggtgatgagggttcAggtgagctcactgactggcc	16	7	2	5			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:71299880A>G	uc002shp.3	+	5	871	c.465A>G	c.(463-465)TCA>TCG	p.S155S	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Silent_p.S6S|NAGK_uc002shr.2_Silent_p.S104S	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	155					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	ATGAGGGTTCAGGTGAGCTCA	0.592													G	71299880	A	G	71299880	2	3	279	1	0	0	0	0	0	0	0	1	10142	202	7	3		3	NAGK	2	71299880	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	15491057	71299880	171899493	101	143094											
CYP26B1	56603	broad.mit.edu	37	chr2	72360353	72360353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctccagcacagtgggGtgcttcagcagctgcatgat	12	11	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:72360353G>A	uc002sih.1	-	5	945	c.945C>T	c.(943-945)CAC>CAT	p.H315H	CYP26B1_uc010yra.1_Silent_p.H298H|CYP26B1_uc010yrb.1_Silent_p.H240H	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	315					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			skin(2)	2						GCACAGTGGGGTGCTTCAGCA	0.657													A	72360353	G	A	72360353	2	1	279	1	0	0	0	0	0	0	0	1	4156	1252	44	4		4	CYP26B1	2	72360353	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1060473	72360353	170839020	102	143095											
TET3	200424	broad.mit.edu	37	chr2	74317097	74317097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttggttgttcctggagcAtgtacttcaacggctgcaag	11	10	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:74317097A>G	uc002skb.3	+	5	2557	c.2557A>G	c.(2557-2559)ATG>GTG	p.M853V		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	853							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTCCTGGAGCATGTACTTCAA	0.592													G	74317097	A	G	74317097	3	3	279	1	0	0	0	0	1	0	0	0	15768	217	8	3	2575	3	TET3	2	74317097	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1956744	74317097	168882276	103	143096											
MOGS	7841	broad.mit.edu	37	chr2	74689670	74689670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagacccttccacccCgatgtctggcaataccagcc	7	18	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:74689670C>A	uc010ffj.2	-	4	1409	c.1246G>T	c.(1246-1248)GGG>TGG	p.G416W	MOGS_uc010ffh.2_Missense_Mutation_p.G141W|MOGS_uc010yrt.1_Missense_Mutation_p.G297W|MOGS_uc010ffi.2_Missense_Mutation_p.G310W	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	416	Lumenal (Potential).				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				0						CCTTCCACCCCGATGTCTGGC	0.592													A	74689670	C	A	74689670	3	1	279	1	0	0	0	0	1	0	0	0	9697	652	23	5	1271	5	MOGS	2	74689670	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	372573	74689670	168509703	104	143097											
LBX2	85474	broad.mit.edu	37	chr2	74725093	74725093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgtctgacaggtggggCcgggagtcagggccggcagg	19	11	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:74725093C>T	uc002slv.3	-	2	563	c.558G>A	c.(556-558)CGG>CGA	p.R186R	LBX2_uc002slw.2_Silent_p.R182R	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACAGGTGGGGCCGGGAGTCAG	0.677													T	74725093	C	T	74725093	2	4	279	1	0	0	0	0	0	0	0	1	8654	726	26	2		2	LBX2	2	74725093	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	35423	74725093	168474280	105	143098											
LRRTM1	347730	broad.mit.edu	37	chr2	80530804	80530804	+	Frame_Shift_Del	DEL	C	C	-													gcctcgcagtacagcagccgCccctcgcaccggcacagctg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:80530803_80530803GC>G	uc021vjt.1	-	0	142	c.142_142GC>C	c.(142-144)cggfs	p.R48fs	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Frame_Shift_Del_p.R48fs	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	48	LRRNT.					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						TACAGCAGCCGCCCCTCGCAC	0.711										HNSCC(69;0.2)			-	80530804	C	-	80530804	7	5	279	1	0	1	0	1	0	0	0	0	9039	726	26	0	1431	0	LRRTM1	2	80530804	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	5805711	80530804	162668569	106	143099											
CTNNA2	1496	broad.mit.edu	37	chr2	80816547	80816549	+	In_Frame_Del	DEL	ATG	ATG	-													caaatgggacgacagcggcaAtgatatcattgtactggcca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:80816546_80816548AATG>A	uc010ysh.2	+	13	2130_2132	c.2125_2127AATG>A	c.(2125-2127)aat>A	p.N709del	CTNNA2_uc010yse.2_In_Frame_Del_p.N709del|CTNNA2_uc010ysf.2_In_Frame_Del_p.N709del|CTNNA2_uc010ysg.2_In_Frame_Del_p.N709del|CTNNA2_uc010ysi.2_In_Frame_Del_p.N341del|CTNNA2_uc010ysj.2_In_Frame_Del_p.N38del	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	709					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.G708G(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						CGACAGCGGCAATGATATCATTG	0.473													-	80816549	ATG	-	80816547	7	5	279	1	0	1	0	1	0	0	0	0	4013	101	4	0	1972	0	CTNNA2	2	80816547	In_Frame_Del	DEL	ATG	TCGA-HU-A4H3-01A-21D-A25D-08	285743	80816547	162382826	107	143100											
CNNM3	26505	broad.mit.edu	37	chr2	97494763	97494763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtacctcaatgcactcCtggctacccgagcccagaac	8	16	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:97494763C>A	uc002swy.2	+	7	1975	c.1951C>A	c.(1951-1953)CTG>ATG	p.L651M	CNNM3_uc002swz.2_Missense_Mutation_p.L603M	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	651					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						CAATGCACTCCTGGCTACCCG	0.577													A	97494763	C	A	97494763	3	1	279	1	0	0	0	0	1	0	0	0	3614	680	24	5	1977	5	CNNM3	2	97494763	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	16678216	97494763	145704610	108	143101											
TBC1D8	11138	broad.mit.edu	37	chr2	101656773	101656773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcgaacagtccacaaccGcgtgcagcttctccttcctc	8	16	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:101656773G>A	uc010fiv.2	-	6	1033	c.902C>T	c.(901-903)GCG>GTG	p.A301V	TBC1D8_uc010yvw.1_Missense_Mutation_p.A316V|TBC1D8_uc002tau.3_Missense_Mutation_p.A58V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	301	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						GTCCACAACCGCGTGCAGCTT	0.577													A	101656773	G	A	101656773	3	1	279	1	0	0	0	0	1	0	0	0	15622	1087	38	1	2580	1	TBC1D8	2	101656773	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4162010	101656773	141542600	109	143102											
IL1R1	3554	broad.mit.edu	37	chr2	102781301	102781301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaattgatgttcgtccCtgtcctcttaacccaaatga	6	10	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:102781301C>T	uc002tbq.2	+	4	447	c.129C>T	c.(127-129)CCC>CCT	p.P43P	IL1R1_uc010fix.2_Silent_p.P43P|IL1R1_uc002tbp.2_Silent_p.P43P|IL1R1_uc002tbr.2_Silent_p.P43P	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	43	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	ATGTTCGTCCCTGTCCTCTTA	0.373													T	102781301	C	T	102781301	2	4	279	1	0	0	0	0	0	0	0	1	7658	668	24	4		4	IL1R1	2	102781301	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1124528	102781301	140418072	110	143103											
IL1RL1	9173	broad.mit.edu	37	chr2	102955439	102955439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcgtgtgtttgcctcAggccaacttctgaagtttct	9	9	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:102955439A>G	uc002tbu.1	+	3	475	c.204A>G	c.(202-204)TCA>TCG	p.S68S	IL1RL1_uc010ywa.1_Splice_Site|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Silent_p.S68S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	68	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						TGTTTGCCTCAGGCCAACTTC	0.418													G	102955439	A	G	102955439	2	3	279	1	0	0	0	0	0	0	0	1	7663	175	7	3		3	IL1RL1	2	102955439	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	174138	102955439	140243934	111	143104											
SLC9A4	389015	broad.mit.edu	37	chr2	103125345	103125345	+	Frame_Shift_Del	DEL	A	A	-													tggtcaggtacctggatgttAaaaaaaccaataaaaaagaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:103125344_103125344TA>T	uc002tbz.4	+	5	1897	c.1440_1440TA>T	c.(1438-1440)gttfs	p.V480fs		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	480					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						ACCTGGATGTTAAAAAAACCA	0.353													-	103125345	A	-	103125345	7	5	279	1	0	1	0	1	0	0	0	0	14716	363	13	0	1463	0	SLC9A4	2	103125345	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	169906	103125345	140074028	112	143105											
GCC2	9648	broad.mit.edu	37	chr2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-													aaacaataaactcagttcagAaaaaaaacagttgagtaggg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					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						ACTCAGTTCAGAAAAAAAACA	0.308													-	109087884	A	-	109087884	7	5	279	1	0	1	0	1	0	0	0	0	6286	246	9	0	2121	0	GCC2	2	109087884	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	5962539	109087884	134111489	113	143106											
RANBP2	5903	broad.mit.edu	37	chr2	109379767	109379767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaacagatgcacacaccGccagtgcaaagctcatctgc	8	16	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:109379767G>A	uc002tem.3	+	20	2898	c.2772G>A	c.(2770-2772)CCG>CCA	p.P924P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	924					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGCACACACCGCCAGTGCAAA	0.478													A	109379767	G	A	109379767	2	1	279	1	0	0	0	0	0	0	0	1	13028	1074	38	1		1	RANBP2	2	109379767	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	291883	109379767	133819606	114	143107											
EN1	2019	broad.mit.edu	37	chr2	119604484	119604484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctggtgagcaggcgccGcgagatgctgaggcggcggg	22	10	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:119604484G>A	uc002tlm.2	-	1	1276	c.260C>T	c.(259-261)GCG>GTG	p.A87V		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	87					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						AGCAGGCGCCGCGAGATGCTG	0.348													A	119604484	G	A	119604484	3	1	279	1	0	0	0	0	1	0	0	0	5109	1087	38	1	926	1	EN1	2	119604484	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10224717	119604484	123594889	115	143108											
IWS1	55677	broad.mit.edu	37	chr2	128252455	128252455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatacttacttcttaaGgtgcataactacagcaggca	6	9	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:128252455G>A	uc002ton.2	-	8	2095	c.1792C>T	c.(1792-1794)CTT>TTT	p.L598F	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	598					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TACTTCTTAAGGTGCATAACT	0.279													A	128252455	G	A	128252455	3	1	279	1	0	0	0	0	1	0	0	0	7931	1000	35	4	695	4	IWS1	2	128252455	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8647971	128252455	114946918	116	143109											
SAP130	79595	broad.mit.edu	37	chr2	128775465	128775465	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctccctggcactgacttcaGaatctcgaccagattcatca	7	14	4	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:128775465G>T	uc002tpp.2	-	3	347	c.215C>A	c.(214-216)TCT>TAT	p.S72Y	SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.S72Y|SAP130_uc002tpq.1_Missense_Mutation_p.S46Y	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	72					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTGACTTCAGAATCTCGACC	0.507													T	128775465	G	T	128775465	3	4	279	1	0	0	0	0	1	0	0	0	13831	942	33	5	3112	5	SAP130	2	128775465	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	523010	128775465	114423908	117	143110											
TUBA3E	112714	broad.mit.edu	37	chr2	130949500	130949501	+	Frame_Shift_Del	DEL	AG	AG	-													gccaggtcctcgcgggcctcAgagaactctccctcttccat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:130949500_130949501delAG	uc002tqv.2	-	5	1357_1358	c.1256_1257delCT	c.(1255-1257)TCTfs	p.S419fs		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	419					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					CGCGGGCCTCAGAGAACTCTCC	0.589													-	130949501	AG	-	130949500	7	5	279	1	0	1	0	1	0	0	0	0	16745	175	7	0	99	0	TUBA3E	2	130949500	Frame_Shift_Del	DEL	AG	TCGA-HU-A4H3-01A-21D-A25D-08	2174035	130949500	112249873	118	143111											
PTPN18	26469	broad.mit.edu	37	chr2	131130739	131130739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcccaggtttcaaccTgcgcattgggaggccgaagg	12	12	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:131130739T>C	uc002trc.2	+	15	1426	c.1325T>C	c.(1324-1326)CTG>CCG	p.L442P	PTPN18_uc002trd.2_Missense_Mutation_p.L421P|PTPN18_uc002trb.2_Missense_Mutation_p.L335P|PTPN18_uc002tre.2_Missense_Mutation_p.L93P	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	442						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					GGTTTCAACCTGCGCATTGGG	0.622													C	131130739	T	C	131130739	3	2	279	1	0	0	0	0	1	0	0	0	12784	1580	55	3	1383	3	PTPN18	2	131130739	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	181239	131130739	112068634	119	143112											
LRP1B	53353	broad.mit.edu	37	chr2	141458136	141458136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagttctccgggaatttcctCgataaagacagagttgctta	9	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:141458136C>T	uc002tvj.1	-	41	7454	c.6482G>A	c.(6481-6483)CGA>CAA	p.R2161Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2161	Extracellular (Potential).|EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GGAATTTCCTCGATAAAGACA	0.423										TSP Lung(27;0.18)			T	141458136	C	T	141458136	3	4	279	1	0	0	0	0	1	0	0	0	8955	884	31	1	7521	1	LRP1B	2	141458136	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	10327397	141458136	101741237	120	143113											
RIF1	55183	broad.mit.edu	37	chr2	152273371	152273371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttaacaaaggagagacGcattctgctgttgttgattt	10	6	1	2	rs149505451	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:152273371G>A	uc002txm.2	+	6	589	c.459G>A	c.(457-459)ACG>ACA	p.T153T	RIF1_uc002txl.2_Silent_p.T153T|RIF1_uc010fnv.1_Silent_p.T117T|RIF1_uc002txn.2_Silent_p.T153T|RIF1_uc002txo.2_Silent_p.T153T|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	153					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGGAGAGACGCATTCTGCTG	0.299													A	152273371	G	A	152273371	2	1	279	1	0	0	0	0	0	0	0	1	13359	1074	38	1		1	RIF1	2	152273371	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10815235	152273371	90926002	121	143114											
RIF1	55183	broad.mit.edu	37	chr2	152318968	152318970	+	In_Frame_Del	DEL	GAT	GAT	-													aaaccaaaggaggattctaaGatgatgattacggtatgttt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:152318968_152318970delGAT	uc002txm.2	+	29	3481_3483	c.3351_3353delGAT	c.(3349-3354)AAGATG>AAG	p.M1119del	RIF1_uc002txl.2_In_Frame_Del_p.M1119del|RIF1_uc002txn.2_In_Frame_Del_p.M1119del|RIF1_uc002txo.2_In_Frame_Del_p.M1119del|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1119					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGATTCTAAGATGATGATTACG	0.286													-	152318970	GAT	-	152318968	7	5	279	1	0	1	0	1	0	0	0	0	13359	933	33	0	3461	0	RIF1	2	152318968	In_Frame_Del	DEL	GAT	TCGA-HU-A4H3-01A-21D-A25D-08	45597	152318968	90880405	122	143115											
KCNJ3	3760	broad.mit.edu	37	chr2	155555820	155555820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacgccttcctcatcgGctgcatgttcatcaagatgt	10	12	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:155555820G>A	uc002tyv.1	+	1	728	c.533G>A	c.(532-534)GGC>GAC	p.G178D	KCNJ3_uc010zce.1_Missense_Mutation_p.G178D	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	178	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TTCCTCATCGGCTGCATGTTC	0.577													A	155555820	G	A	155555820	3	1	279	1	0	0	0	0	1	0	0	0	8052	1203	42	2	535	2	KCNJ3	2	155555820	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3236852	155555820	87643553	123	143116											
NR4A2	4929	broad.mit.edu	37	chr2	157186121	157186121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcaggggcccgtcgaagCgcatctggcaactagacacc	13	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:157186121C>T	uc002tyz.3	-	3	1000	c.578G>A	c.(577-579)CGC>CAC	p.R193H	NR4A2_uc002tyx.3_Missense_Mutation_p.R130H|NR4A2_uc010zcf.1_Missense_Mutation_p.R193H|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	193	Pro-rich.				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			ovary(3)	3						CCCGTCGAAGCGCATCTGGCA	0.647													T	157186121	C	T	157186121	3	4	279	1	0	0	0	0	1	0	0	0	10633	768	27	1	1242	1	NR4A2	2	157186121	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1630301	157186121	86013252	124	143117											
UPP2	151531	broad.mit.edu	37	chr2	158971760	158971760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacaaaaccgggcctgtgCtcgccatcagtgtaagtatc	10	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:158971760C>T	uc002tzp.2	+	3	522	c.328C>T	c.(328-330)CTC>TTC	p.L110F	UPP2_uc002tzo.2_Missense_Mutation_p.L167F	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	110					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				0						CGGGCCTGTGCTCGCCATCAG	0.448													T	158971760	C	T	158971760	3	4	279	1	0	0	0	0	1	0	0	0	17010	797	28	2	517	2	UPP2	2	158971760	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1785639	158971760	84227613	125	143118											
PKP4	8502	broad.mit.edu	37	chr2	159481628	159481629	+	Frame_Shift_Ins	INS	-	-	C													tactcacagagacccgcctcINScccaacagctatacggcgga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:159481627_159481628T>TC	uc002tzv.3	+	6	1101_1102	c.841_842T>TC	c.(841-843)tccfs	p.S281fs	PKP4_uc002tzt.1_Frame_Shift_Ins_p.S133fs|PKP4_uc002tzu.3_Frame_Shift_Ins_p.S281fs|PKP4_uc002tzw.3_Frame_Shift_Ins_p.S281fs|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Frame_Shift_Ins_p.S279fs|PKP4_uc002uaa.3_Frame_Shift_Ins_p.S133fs	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	281					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						GAGACCCGCCTCCCCAACAGCT	0.614										HNSCC(62;0.18)			C	159481629	-	C	159481628	7	5	279	1	0	1	1	0	0	0	0	0	11987	855	30	0	864	0	PKP4	2	159481628	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	509868	159481628	83717745	126	143119											
BAZ2B	29994	broad.mit.edu	37	chr2	160182228	160182228	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgaagtaaaactttcttGttttgacaagttaatagaag	7	4	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:160182228G>A	uc002uao.2	-	35	6497	c.6145C>T	c.(6145-6147)CAA>TAA	p.Q2049*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.Q2013*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2049					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AAACTTTCTTGTTTTGACAAG	0.333													A	160182228	G	A	160182228	4	1	279	1	0	0	0	0	0	1	0	0	1332	1386	48	4	373	4	BAZ2B	2	160182228	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	700600	160182228	83017145	127	143120											
TANK	10010	broad.mit.edu	37	chr2	162091980	162091980	+	Frame_Shift_Del	DEL	G	G	-													cccaccatccattacatccaGgggggatttccttcggcatc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:162091980delG	uc002ubr.1	+	8	1387	c.1229delG	c.(1228-1230)AGGfs	p.R410fs	TANK_uc002ubs.2_Frame_Shift_Del_p.R410fs	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	410	C2H2-type.					cytosol	metal ion binding|protein binding			ovary(1)	1						ATTACATCCAGGGGGGATTTC	0.418													-	162091980	G	-	162091980	7	5	279	1	0	1	0	1	0	0	0	0	15543	1000	35	0	1288	0	TANK	2	162091980	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1909752	162091980	81107393	128	143121											
FIGN	55137	broad.mit.edu	37	chr2	164467543	164467543	+	Frame_Shift_Del	DEL	C	C	-													cgctgaaggcggaggcggtgCccccccagggctgtacccag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:164467542_164467542GC>G	uc002uck.1	-	2	1111	c.800_800GC>C	c.(799-801)gcafs	p.A267fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(4)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGG	0.607													-	164467543	C	-	164467543	7	5	279	1	0	1	0	1	0	0	0	0	5891	739	26	0	1484	0	FIGN	2	164467543	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	2375563	164467543	78731830	129	143122											
SCN9A	6335	broad.mit.edu	37	chr2	167055891	167055891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatgactgcaatgtacatgTtcaccacaaccaggaaggat	9	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:167055891T>C	uc010fpl.2	-	27	5566	c.5225A>G	c.(5224-5226)AAC>AGC	p.N1742S	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1753	Helical; Name=S6 of repeat IV; (Potential).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AATGTACATGTTCACCACAAC	0.403													C	167055891	T	C	167055891	3	2	279	1	0	0	0	0	1	0	0	0	13925	1725	60	3	712	3	SCN9A	2	167055891	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2588348	167055891	76143482	130	143123											
SCN9A	6335	broad.mit.edu	37	chr2	167141203	167141203	+	Frame_Shift_Del	DEL	A	A	-													cttctgctctcattgtctccAaaaatgctgtgctcatcatc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:167141203delA	uc010fpl.2	-	12	2075	c.1734delT	c.(1732-1734)TTTfs	p.F578fs	uc002udp.2_Intron|SCN9A_uc002udr.1_Frame_Shift_Del_p.F449fs|SCN9A_uc002uds.1_Frame_Shift_Del_p.F449fs|SCN9A_uc002udt.1_Frame_Shift_Del_p.F449fs	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	578						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CATTGTCTCCAAAAATGCTGT	0.507													-	167141203	A	-	167141203	7	5	279	1	0	1	0	1	0	0	0	0	13925	127	5	0	4263	0	SCN9A	2	167141203	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	85312	167141203	76058170	131	143124											
SCN7A	6332	broad.mit.edu	37	chr2	167289041	167289041	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaattcagaaagggtAtggtcagaaatatcttcttt	8	6	5	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:167289041A>G	uc002udu.1	-	15	2506	c.2379T>C	c.(2377-2379)CAT>CAC	p.H793H	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	793					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CAGAAAGGGTATGGTCAGAAA	0.358													G	167289041	A	G	167289041	2	3	279	1	0	0	0	0	0	0	0	1	13923	446	16	3		3	SCN7A	2	167289041	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	147838	167289041	75910332	132	143125											
FASTKD1	79675	broad.mit.edu	37	chr2	170428530	170428531	+	Frame_Shift_Ins	INS	-	-	T													gactctaggaaaacaggtgtINSttttttcatttatatcacaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:170428529_170428530G>GT	uc002uev.4	-	1	398_399	c.10_11C>AC	c.(10-12)acafs	p.T4fs	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	4					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						GAAAACAGGTGTTTTTTTCATT	0.366													T	170428531	-	T	170428530	7	5	279	1	0	1	1	0	0	0	0	0	5685	1725	60	0	2589	0	FASTKD1	2	170428530	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	3139489	170428530	72770843	133	143126											
MYO3B	140469	broad.mit.edu	37	chr2	171240259	171240260	+	Frame_Shift_Ins	INS	-	-	C													ggtgaaacgcgcctccaatcINSccccccacatatttgcatca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:171240258_171240259T>TC	uc002ufy.3	+	11	1367_1368	c.1224_1225T>TC	c.(1222-1227)aatcccfs	p.N408fs	MYO3B_uc002ufv.3_Frame_Shift_Ins_p.N395fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufz.3_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin 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						GCGCCTCCAATCCCCCCCACAT	0.465													C	171240260	-	C	171240259	7	5	279	1	0	1	1	0	0	0	0	0	10077	855	30	0	1271	0	MYO3B	2	171240259	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	811729	171240259	71959114	134	143127											
TTC30B	150737	broad.mit.edu	37	chr2	178416799	178416799	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaacatcaatgccctcAgtggtcatgcccacacctag	8	15	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:178416799A>G	uc002uln.2	-	1	726	c.693T>C	c.(691-693)ACT>ACC	p.T231T	TTC30B_uc010zfc.1_Silent_p.T3T	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	231					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CAATGCCCTCAGTGGTCATGC	0.512													G	178416799	A	G	178416799	2	3	279	1	0	0	0	0	0	0	0	1	16696	175	7	3		3	TTC30B	2	178416799	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	7176540	178416799	64782574	135	143128											
PDE11A	50940	broad.mit.edu	37	chr2	178937033	178937033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacctaaagccccctgaccCtgactgtgcctctgcagcca	9	17	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:178937033C>A	uc002ulq.2	-	1	450	c.132G>T	c.(130-132)CAG>CAT	p.Q44H	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	44					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCCCCTGACCCTGACTGTGCC	0.567									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				A	178937033	C	A	178937033	3	1	279	1	0	0	0	0	1	0	0	0	11631	680	24	5	2749	5	PDE11A	2	178937033	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	520234	178937033	64262340	136	143129											
TTN	7273	broad.mit.edu	37	chr2	179399703	179399703	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccatgctttcaaatgatTcatggaggtgtaagatgttt	9	6	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179399703T>C	uc010zfg.1	-	307	94159	c.93935A>G	c.(93934-93936)GAA>GGA	p.E31312G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25007G|TTN_uc010zfi.1_Missense_Mutation_p.E24940G|TTN_uc010zfj.1_Missense_Mutation_p.E24815G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32239							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAATGATTCATGGAGGTG	0.338													C	179399703	T	C	179399703	3	2	279	1	0	0	0	0	1	0	0	0	16732	1783	62	3	6360	3	TTN	2	179399703	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	462670	179399703	63799670	137	143130											
TTN	7273	broad.mit.edu	37	chr2	179435692	179435692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataatatttgtaaaactgGctttcatccaacggccctca	5	11	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179435692G>A	uc010zfg.1	-	275	67687	c.67463C>T	c.(67462-67464)GCC>GTC	p.A22488V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A16183V|TTN_uc010zfi.1_Missense_Mutation_p.A16116V|TTN_uc010zfj.1_Missense_Mutation_p.A15991V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23415							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAAAACTGGCTTTCATCCA	0.433													A	179435692	G	A	179435692	3	1	279	1	0	0	0	0	1	0	0	0	16732	1203	42	2	32960	2	TTN	2	179435692	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	35989	179435692	63763681	138	143131											
TTN	7273	broad.mit.edu	37	chr2	179543552	179543552	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaggtttcttgggcacttCaggaacttcaaagatatcaa	8	9	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179543552C>A	uc010zfg.1	-	140	30240	c.30016G>T	c.(30016-30018)GAA>TAA	p.E10006*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6667*|TTN_uc010fre.1_Nonsense_Mutation_p.E663*|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10933							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGCACTTCAGGAACTTCA	0.423													A	179543552	C	A	179543552	4	1	279	1	0	0	0	0	0	1	0	0	16732	835	29	5	70661	5	TTN	2	179543552	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	107860	179543552	63655821	139	143132											
TTN	7273	broad.mit.edu	37	chr2	179583588	179583588	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagttccctgctgccTttaaaccacttgaccttgaa	7	14	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:179583588T>G	uc010zfg.1	-	81	20831	c.20607A>C	c.(20605-20607)AAA>AAC	p.K6869N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K3530N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7796							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTGCTGCCTTTAAACCACT	0.488													G	179583588	T	G	179583588	3	3	279	1	0	0	0	0	1	0	0	0	16732	1606	56	5	80306	5	TTN	2	179583588	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	40036	179583588	63615785	140	143133											
DNAJC10	54431	broad.mit.edu	37	chr2	183606066	183606066	+	Frame_Shift_Del	DEL	A	A	-													aaaaactaaaaactctacttAaaaatgatcatattcaagta							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:183606066delA	uc002uow.1	+	13	1589	c.1174delA	c.(1174-1176)AAAfs	p.K392fs	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Frame_Shift_Del_p.K346fs|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	392					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			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AACTCTACTTAAAAATGATCA	0.279													-	183606066	A	-	183606066	7	5	279	1	0	1	0	1	0	0	0	0	4629	363	13	0	1216	0	DNAJC10	2	183606066	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	4022478	183606066	59593307	141	143134											
NAB1	4664	broad.mit.edu	37	chr2	191524419	191524419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgagagcgagcacagcCtctccccagcagacctgggc	11	17	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:191524419C>T	uc002usb.2	+	4	1089	c.517C>T	c.(517-519)CTC>TTC	p.L173F	NAB1_uc010fsc.2_Missense_Mutation_p.L173F|NAB1_uc010fsd.2_Missense_Mutation_p.L173F|NAB1_uc002usc.2_Missense_Mutation_p.L173F|NAB1_uc010zgh.1_Missense_Mutation_p.L173F	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	173					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CGAGCACAGCCTCTCCCCAGC	0.632													T	191524419	C	T	191524419	3	4	279	1	0	0	0	0	1	0	0	0	10131	681	24	4	519	4	NAB1	2	191524419	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7918353	191524419	51674954	142	143135											
STAT1	6772	broad.mit.edu	37	chr2	191873701	191873701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatacctgaagattacgCttgcttttccttatgttatg	8	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:191873701C>A	uc002usj.2	-	4	649	c.261G>T	c.(259-261)AAG>AAT	p.K87N	STAT1_uc010fse.1_Missense_Mutation_p.K87N|STAT1_uc002usk.2_Missense_Mutation_p.K87N|STAT1_uc002usl.2_Missense_Mutation_p.K89N|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	87					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			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAAGATTACGCTTGCTTTTCC	0.378													A	191873701	C	A	191873701	3	1	279	1	0	0	0	0	1	0	0	0	15263	796	28	5	2083	5	STAT1	2	191873701	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	349282	191873701	51325672	143	143136											
HECW2	57520	broad.mit.edu	37	chr2	197185165	197185165	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgagcatttgatcacTgcaagaagagaaatgcttct	10	7	2	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:197185165T>G	uc002utm.1	-	8	1068	c.885_splice	c.e8-1	p.G295_splice	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						ATTTGATCACTGCAAGAAGAG	0.498													G	197185165	T	G	197185165	5	3	279	1	0	0	0	0	0	0	1	0	7043	1594	55	5	3923	5	HECW2	2	197185165	Splice_Site	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	5311464	197185165	46014208	144	143137											
SGOL2	151246	broad.mit.edu	37	chr2	201436289	201436289	+	Frame_Shift_Del	DEL	A	A	-													agtgaaagattccagctctgAaaaaaagagagaaagatcaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:201436288_201436288GA>G	uc002uvw.2	+	6	1332	c.1219_1219GA>G	c.(1219-1221)gaafs	p.E407fs	SGOL2_uc010zhd.1_Frame_Shift_Del_p.E407fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.E407fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	407					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						TTCCAGCTCTGAAAAAAAGAG	0.323													-	201436289	A	-	201436289	7	5	279	1	0	1	0	1	0	0	0	0	14217	246	9	0	1242	0	SGOL2	2	201436289	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	4251124	201436289	41763084	145	143138											
CDK15	65061	broad.mit.edu	37	chr2	202671427	202671427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagactgtacagcctggaTgcagctgctaccattgttca	9	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:202671427T>C	uc002uyt.2	+	1	89	c.40T>C	c.(40-42)TGC>CGC	p.C14R	CDK15_uc010ftm.2_Intron|CDK15_uc002uys.2_Intron|CDK15_uc010ftn.1_Intron|CDK15_uc010fto.1_Missense_Mutation_p.C14R	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	14							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	ACAGCCTGGATGCAGCTGCTA	0.537													C	202671427	T	C	202671427	3	2	279	1	0	0	0	0	1	0	0	0	3131	1479	51	3		3	CDK15	2	202671427	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1235138	202671427	40527946	146	143139											
PARD3B	117583	broad.mit.edu	37	chr2	206305215	206305215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggaccccaattatgccAgagtgaaccactttcgggaa	9	10	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:206305215A>G	uc002var.1	+	20	3070	c.2863A>G	c.(2863-2865)AGA>GGA	p.R955G	PARD3B_uc002vao.1_Intron|PARD3B_uc002vap.1_Missense_Mutation_p.R893G|PARD3B_uc002vaq.1_Missense_Mutation_p.R886G	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	955					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAATTATGCCAGAGTGAACCA	0.478													G	206305215	A	G	206305215	3	3	279	1	0	0	0	0	1	0	0	0	11444	180	7	3	2941	3	PARD3B	2	206305215	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	3633788	206305215	36894158	147	143140											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-													agccgactttggcatctgcaCccccccagtcgtggtacctt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	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)		TGGCATCTGCACCCCCCCAGT	0.527													-	209025577	C	-	209025577	7	5	279	1	0	1	0	1	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	2720362	209025577	34173796	148	143141											
C2orf80	389073	broad.mit.edu	37	chr2	209035783	209035783	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgttacctttcttgacttGacacctacagacagatgcag	8	10	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:209035783G>A	uc002vcr.2	-	8	631	c.459C>T	c.(457-459)GTC>GTT	p.V153V		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	153										skin(1)	1						TTCTTGACTTGACACCTACAG	0.328													A	209035783	G	A	209035783	2	1	279	1	0	0	0	0	0	0	0	1	2197	1277	45	4		4	C2orf80	2	209035783	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10206	209035783	34163590	149	143142											
SPAG16	79582	broad.mit.edu	37	chr2	214149345	214149345	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcctactacctggaacgTatccttcccgtggaggcgcg	13	14	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:214149345T>C	uc002veq.2	+	1	228	c.136_splice	c.e1+2	p.Q46_splice	SPAG16_uc010fuz.1_Splice_Site|SPAG16_uc002ver.2_Splice_Site|SPAG16_uc010zjk.1_Splice_Site|SPAG16_uc002veo.2_Splice_Site_p.Q46_splice|SPAG16_uc002vep.1_Splice_Site_p.Q46_splice|SPAG16_uc002ves.1_5'UTR	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1						cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		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)		ACCTGGAACGTATCCTTCCCG	0.706													C	214149345	T	C	214149345	5	2	279	1	0	0	0	0	0	0	1	0	14978	1652	57	3	140	3	SPAG16	2	214149345	Splice_Site	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	5113562	214149345	29050028	150	143143											
FN1	2335	broad.mit.edu	37	chr2	216262403	216262403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaaaaattcttcttacGtgtcaccactttgtttacaa	6	8	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:216262403G>A	uc002vfa.2	-	22	3783	c.3517C>T	c.(3517-3519)CCA>TCA	p.P1173S	FN1_uc002vfb.2_Missense_Mutation_p.P1173S|FN1_uc002vfc.2_Missense_Mutation_p.P1173S|FN1_uc002vfd.2_Missense_Mutation_p.P1173S|FN1_uc002vfe.2_Missense_Mutation_p.P1173S|FN1_uc002vff.2_Missense_Mutation_p.P1173S|FN1_uc002vfg.2_Missense_Mutation_p.P1173S|FN1_uc002vfh.2_Missense_Mutation_p.P1173S|FN1_uc002vfi.2_Missense_Mutation_p.P1173S|FN1_uc002vfj.2_Missense_Mutation_p.P1173S	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1173	Fibronectin type-III 7.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	TTCTTCTTACGTGTCACCACT	0.383													A	216262403	G	A	216262403	3	1	279	1	0	0	0	0	1	0	0	0	5962	1159	40	1	4016	1	FN1	2	216262403	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2113058	216262403	26936970	151	143144											
MREG	55686	broad.mit.edu	37	chr2	216810377	216810377	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttttaacaacatctctcGagctttccttgtgtttttag	6	9	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:216810377G>A	uc002vfo.2	-	4	723	c.427C>T	c.(427-429)CGA>TGA	p.R143*	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	143						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		AACATCTCTCGAGCTTTCCTT	0.393													A	216810377	G	A	216810377	4	1	279	1	0	0	0	0	0	1	0	0	9760	1066	37	1	225	1	MREG	2	216810377	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	547974	216810377	26388996	152	143145											
TNS1	7145	broad.mit.edu	37	chr2	218674599	218674599	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagagactttgaagtgaacGatggtggcagctggcgtggg	18	6	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:218674599G>A	uc002vgt.2	-	30	5306	c.4908C>T	c.(4906-4908)ATC>ATT	p.I1636I	TNS1_uc002vgr.2_Silent_p.I1622I|TNS1_uc002vgs.2_Silent_p.I1615I|TNS1_uc002vgq.2_Silent_p.I136I	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1636						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		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)		TGAAGTGAACGATGGTGGCAG	0.562													A	218674599	G	A	218674599	2	1	279	1	0	0	0	0	0	0	0	1	16340	1048	37	1		1	TNS1	2	218674599	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1864222	218674599	24524774	153	143146											
SLC4A3	6508	broad.mit.edu	37	chr2	220492742	220492742	+	Frame_Shift_Del	DEL	G	G	-													acggagtgatcccgccgcccGggggcgcctcccccctaccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:220492742delG	uc002vmp.3	+	2	297	c.28delG	c.(28-30)GGGfs	p.G10fs	SLC4A3_uc002vmn.2_Frame_Shift_Del_p.G10fs|SLC4A3_uc002vmo.3_Frame_Shift_Del_p.G10fs|SLC4A3_uc010fwm.2_5'UTR	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	10	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		CCCGCCGCCCGGGGGCGCCTC	0.622													-	220492742	G	-	220492742	7	5	279	1	0	1	0	1	0	0	0	0	14655	1116	39	0	30	0	SLC4A3	2	220492742	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1818143	220492742	22706631	154	143147											
IRS1	3667	broad.mit.edu	37	chr2	227662352	227662352	+	Frame_Shift_Del	DEL	G	G	-													tggagcggctgtggttgagcGgggggtgcagccgggcgctg					rs13306467		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:227662352delG	uc002voh.3	-	1	1155	c.1103delC	c.(1102-1104)CCGfs	p.P368fs		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	368	Ser-rich.				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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		GTGGTTGAGCGGGGGGTGCAG	0.706											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	227662352	G	-	227662352	7	5	279	1	0	1	0	1	0	0	0	0	7840	1116	39	0	2629	0	IRS1	2	227662352	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	7169610	227662352	15537021	155	143148											
ARMC9	80210	broad.mit.edu	37	chr2	232123796	232123796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcttgaaagccttctTgttgcaggctctgcgctggg	13	11	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:232123796T>C	uc002vrq.3	+	11	1119	c.1007T>C	c.(1006-1008)TTG>TCG	p.L336S	ARMC9_uc002vrp.3_Missense_Mutation_p.L336S	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	336							binding			ovary(1)	1		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)		AAAGCCTTCTTGTTGCAGGCT	0.438													C	232123796	T	C	232123796	3	2	279	1	0	0	0	0	1	0	0	0	958	1821	63	3	1045	3	ARMC9	2	232123796	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	4461444	232123796	11075577	156	143149											
C2orf57	165100	broad.mit.edu	37	chr2	232458511	232458511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcctgctggacaggggCgagggctccatcagctccct	13	15	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:232458511C>T	uc002vrz.2	+	1	900	c.849C>T	c.(847-849)GGC>GGT	p.G283G		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	283										ovary(1)	1		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)		TGGACAGGGGCGAGGGCTCCA	0.642													T	232458511	C	T	232458511	2	4	279	1	0	0	0	0	0	0	0	1	2178	755	27	1		1	C2orf57	2	232458511	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	334715	232458511	10740862	157	143150											
EFHD1	80303	broad.mit.edu	37	chr2	233527580	233527580	+	Frame_Shift_Del	DEL	C	C	-													gatgatggagaagctgggggCcccccagacccacctgggcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:233527579_233527579GC>G	uc002vtc.3	+	1	578	c.370_370GC>G	c.(370-372)gccfs	p.A124fs	EFHD1_uc010fyf.3_Frame_Shift_Del_p.A28fs|EFHD1_uc002vtd.3_Frame_Shift_Del_p.A12fs	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	124	EF-hand 1.						calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		GAAGCTGGGGGCCCCCCAGAC	0.602													-	233527580	C	-	233527580	7	5	279	1	0	1	0	1	0	0	0	0	4948	739	26	0	377	0	EFHD1	2	233527580	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	1069069	233527580	9671793	158	143151											
NEU2	4759	broad.mit.edu	37	chr2	233897493	233897493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtccctgctggccttcGcggaacagcgggcaagcaag	14	13	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:233897493G>A	uc010zmn.1	+	1	112	c.112G>A	c.(112-114)GCG>ACG	p.A38T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	38							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCTGGCCTTCGCGGAACAGCG	0.622													A	233897493	G	A	233897493	3	1	279	1	0	0	0	0	1	0	0	0	10342	1087	38	1	114	1	NEU2	2	233897493	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	369913	233897493	9301880	159	143152											
UGT1A4	54657	broad.mit.edu	37	chr2	234627599	234627599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccctggctcagcatgCgggaggccttgcgggagctc	16	14	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:234627599C>T	uc002vux.2	+	1	162	c.133C>T	c.(133-135)CGG>TGG	p.R45W	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.R45W	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	45					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		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;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	GCTCAGCATGCGGGAGGCCTT	0.607													T	234627599	C	T	234627599	3	4	279	1	0	0	0	0	1	0	0	0	16944	759	27	1	135	1	UGT1A4	2	234627599	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	730106	234627599	8571774	160	143153											
DNAJB3	414061	broad.mit.edu	37	chr2	234652144	234652144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgaaggcagagaaaaGgggtgcagacgctctgcttc	13	9	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:234652144G>T	uc002vuz.2	-	1	518	c.419C>A	c.(418-420)CCT>CAT	p.P140H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	140					protein folding		heat shock protein binding|unfolded protein binding				0						GCAGAGAAAAGGGGTGCAGAC	0.517													T	234652144	G	T	234652144	3	4	279	1	0	0	0	0	1	0	0	0	4621	1000	35	5	22	5	DNAJB3	2	234652144	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	24545	234652144	8547229	161	143154											
TRPM8	79054	broad.mit.edu	37	chr2	234873391	234873391	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggctaatgagtacgagacCcgggctgttggtgagtccac	14	10	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:234873391C>A	uc002vvh.2	+	14	1909	c.1869C>A	c.(1867-1869)ACC>ACA	p.T623T	TRPM8_uc010fyj.2_Silent_p.T311T	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	623	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		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)	AGTACGAGACCCGGGCTGTTG	0.582													A	234873391	C	A	234873391	2	1	279	1	0	0	0	0	0	0	0	1	16589	610	22	5		5	TRPM8	2	234873391	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	221247	234873391	8325982	162	143155											
ILKAP	80895	broad.mit.edu	37	chr2	239092729	239092729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaaggcatctcttcacGgttttctctacactgattac	5	12	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:239092729G>A	uc002vxv.2	-	7	688	c.558C>T	c.(556-558)ACC>ACT	p.T186T	ILKAP_uc010zns.1_Silent_p.T118T|ILKAP_uc002vxw.2_Silent_p.T66T|ILKAP_uc010znt.1_Silent_p.T66T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	186	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATCTCTTCACGGTTTTCTCTA	0.393													A	239092729	G	A	239092729	2	1	279	1	0	0	0	0	0	0	0	1	7714	1103	39	1		1	ILKAP	2	239092729	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4219338	239092729	4106644	163	143156											
HDAC4	9759	broad.mit.edu	37	chr2	240056254	240056254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggcaggcaggcccagcGtgatgttgggcaaggatggc	19	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:240056254G>A	uc002vyk.3	-	10	1856	c.1064C>T	c.(1063-1065)ACG>ATG	p.T355M	HDAC4_uc010fyz.1_Missense_Mutation_p.T350M|HDAC4_uc010zoa.1_Missense_Mutation_p.T350M|HDAC4_uc010fza.2_Missense_Mutation_p.T355M|HDAC4_uc010fyy.2_Missense_Mutation_p.T307M|HDAC4_uc010znz.1_Missense_Mutation_p.T238M|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	355					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			breast(3)|skin(2)|ovary(1)	6		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)		CAGGCCCAGCGTGATGTTGGG	0.647													A	240056254	G	A	240056254	3	1	279	1	0	0	0	0	1	0	0	0	7009	1145	40	1	2262	1	HDAC4	2	240056254	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	963525	240056254	3143119	164	143157											
AQP12B	653437	broad.mit.edu	37	chr2	241621893	241621893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcaggcggcctgcatgCccagcccctgtgccgccagc	15	17	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:241621893C>T	uc010fzj.2	-	1	425	c.362G>A	c.(361-363)GGC>GAC	p.G121D	AQP12B_uc002vzt.2_RNA	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	aquaporin 12B	109	Helical; Name=3; (Potential).					integral to membrane	transporter activity				0		all_epithelial(40;1.71e-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;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)		GGCCTGCATGCCCAGCCCCTG	0.701													T	241621893	C	T	241621893	3	4	279	1	0	0	0	0	1	0	0	0	825	739	26	2	573	2	AQP12B	2	241621893	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1565639	241621893	1577480	165	143158											
SNED1	25992	broad.mit.edu	37	chr2	242004785	242004785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctatctcctggaacccGcccaatggtccagccgccag	9	17	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:242004785G>A	uc002wah.1	+	21	2784	c.2784G>A	c.(2782-2784)CCG>CCA	p.P928P	SNED1_uc002wai.1_Silent_p.P163P|SNED1_uc002waj.1_Silent_p.P15P|SNED1_uc002wak.2_Silent_p.P15P	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	928	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		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)		CCTGGAACCCGCCCAATGGTC	0.612													A	242004785	G	A	242004785	2	1	279	1	0	0	0	0	0	0	0	1	14845	1074	38	1		1	SNED1	2	242004785	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	382892	242004785	1194588	166	143159											
BOK	666	broad.mit.edu	37	chr2	242509686	242509686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccctggcaacctggctgCggagacgcggcggatgggtg	18	11	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr2:242509686C>T	uc002wbq.2	+	4	742	c.496C>T	c.(496-498)CGG>TGG	p.R166W	BOK_uc002wbr.2_5'Flank	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	166	BH2.				activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				ovary(1)	1		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;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		AACCTGGCTGCGGAGACGCgg	0.378													T	242509686	C	T	242509686	3	4	279	1	0	0	0	0	1	0	0	0	1484	759	27	1	506	1	BOK	2	242509686	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	504901	242509686	689687	167	143160											
C3orf32	51066	broad.mit.edu	37	chr3	8675523	8675523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggggcttctgggaaggGcctgtggactcacgcgggcc	20	11	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:8675523G>A	uc003bqu.2	-	4	348	c.102C>T	c.(100-102)GGC>GGT	p.G34G	C3orf32_uc003bqz.2_Silent_p.G34G|C3orf32_uc003bqt.2_Intron|C3orf32_uc011atg.1_Intron|C3orf32_uc003bqv.2_Intron|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_Intron|C3orf32_uc003bqy.2_Silent_p.G34G	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	34										skin(1)	1						TCTGGGAAGGGCCTGTGGACT	0.647													A	8675523	G	A	8675523	2	1	279	1	0	0	0	0	0	0	0	1	2222	1190	42	2		2	C3orf32	3	8675523	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		8675523	189346907	168	143161											
SETD5	55209	broad.mit.edu	37	chr3	9517704	9517705	+	Frame_Shift_Ins	INS	-	-	G													ctacccacaccgtgggagtgINSggggtgtgcaccagtaccga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:9517703_9517704T>TG	uc003brt.3	+	22	4692_4693	c.4257_4258T>TG	c.(4255-4260)agtgggfs	p.S1419fs	SETD5_uc003bru.3_Frame_Shift_Ins_p.S1321fs|SETD5_uc003brv.3_Frame_Shift_Ins_p.S1308fs|SETD5_uc010hck.3_Frame_Shift_Ins_p.S901fs|SETD5_uc003brx.3_Frame_Shift_Ins_p.S1088fs	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1419										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACCGTGGGAGTGGGGGTGTGCA	0.569													G	9517705	-	G	9517704	7	5	279	1	0	1	1	0	0	0	0	0	14134	1348	47	0	4340	0	SETD5	3	9517704	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	842181	9517704	188504726	169	143162											
CAND2	23066	broad.mit.edu	37	chr3	12867068	12867068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaagccctcgctagtccGggacctgctggatgacatcc	10	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:12867068G>A	uc003bxk.2	+	12	3189	c.3140G>A	c.(3139-3141)CGG>CAG	p.R1047Q	CAND2_uc003bxj.2_Missense_Mutation_p.R930Q	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1047					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TCGCTAGTCCGGGACCTGCTG	0.612													A	12867068	G	A	12867068	3	1	279	1	0	0	0	0	1	0	0	0	2616	1116	39	1	3186	1	CAND2	3	12867068	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3349364	12867068	185155362	170	143163											
NKIRAS1	28512	broad.mit.edu	37	chr3	23952392	23952392	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccttgcagccctttcCcatcttctctcaggatatca	4	16	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:23952392C>A	uc003ccj.2	-	3	406	c.4G>T	c.(4-6)GGA>TGA	p.G2*	NKIRAS1_uc003cck.2_Nonsense_Mutation_p.G2*|NKIRAS1_uc003ccl.2_Nonsense_Mutation_p.G2*|NKIRAS1_uc003ccm.2_Nonsense_Mutation_p.G2*	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	2					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0						CAGCCCTTTCCCATCTTCTCT	0.353													A	23952392	C	A	23952392	4	1	279	1	0	0	0	0	0	1	0	0	10444	632	22	5	586	5	NKIRAS1	3	23952392	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	11085324	23952392	174070038	171	143164											
LRRC3B	116135	broad.mit.edu	37	chr3	26751452	26751452	+	Frame_Shift_Del	DEL	A	A	-													tgagagttctcaacctgtccAaaaatggcattgagtttatc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:26751452delA	uc003cdp.2	+	2	878	c.289delA	c.(289-291)AAAfs	p.K97fs	LRRC3B_uc003cdq.2_Frame_Shift_Del_p.K97fs	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	97	LRR 2.					integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						CAACCTGTCCAAAAATGGCAT	0.423													-	26751452	A	-	26751452	7	5	279	1	0	1	0	1	0	0	0	0	8996	131	5	0	291	0	LRRC3B	3	26751452	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	2799060	26751452	171270978	172	143165											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32612171	32612171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccaccgttgcccgacGctatctcgttgcccaagggg	13	16	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:32612171G>A	uc003cfb.3	-	1	180	c.92C>T	c.(91-93)GCG>GTG	p.A31V	DYNC1LI1_uc011axh.1_Missense_Mutation_p.A31V	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	31					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						GTTGCCCGACGCTATCTCGTT	0.682													A	32612171	G	A	32612171	3	1	279	1	0	0	0	0	1	0	0	0	4844	1087	38	1	1531	1	DYNC1LI1	3	32612171	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5860719	32612171	165410259	173	143166											
LRRFIP2	9209	broad.mit.edu	37	chr3	37149577	37149577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctcacccctggactgcttCgggctgaacttattcttgat	9	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:37149577C>T	uc003cgp.2	-	14	1124	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	234	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						TGGACTGCTTCGGGCTGAACT	0.368													T	37149577	C	T	37149577	3	4	279	1	0	0	0	0	1	0	0	0	9028	884	31	1	1528	1	LRRFIP2	3	37149577	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4537406	37149577	160872853	174	143167											
DLEC1	9940	broad.mit.edu	37	chr3	38163221	38163221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcagcgagtccgggagGtctacctgatgaacctgagc	14	12	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:38163221G>A	uc003cho.1	+	35	4990	c.4969G>A	c.(4969-4971)GTC>ATC	p.V1657I	DLEC1_uc003chp.1_Missense_Mutation_p.V1657I|DLEC1_uc010hgv.1_Missense_Mutation_p.V1660I|DLEC1_uc003chr.1_Missense_Mutation_p.V728I|DLEC1_uc003chs.1_Missense_Mutation_p.V214I	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1657					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGTCCGGGAGGTCTACCTGAT	0.637													A	38163221	G	A	38163221	3	1	279	1	0	0	0	0	1	0	0	0	4552	1261	44	4	5107	4	DLEC1	3	38163221	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1013644	38163221	159859209	175	143168											
KBTBD5	131377	broad.mit.edu	37	chr3	42727728	42727728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgggcgggtagcggcgaCgccgaggcgcaggctgagcg	22	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:42727728C>T	uc003clv.1	+	1	718	c.618C>T	c.(616-618)GAC>GAT	p.D206D		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	206	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTAGCGGCGACGCCGAGGCGC	0.701													T	42727728	C	T	42727728	2	4	279	1	0	0	0	0	0	0	0	1	7996	535	19	1		1	KBTBD5	3	42727728	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4564507	42727728	155294702	176	143169											
CYP8B1	1582	broad.mit.edu	37	chr3	42916994	42916994	+	Frame_Shift_Del	DEL	T	T	-													ccaaataccttcagcaccagTttttttgcatattgcccaaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:42916994delT	uc003cmh.2	-	1	640	c.315delA	c.(313-315)AAAfs	p.K105fs	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Frame_Shift_Del_p.K105fs	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	105					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			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCAGCACCAGTTTTTTTGCAT	0.507													-	42916994	T	-	42916994	7	5	279	1	0	1	0	1	0	0	0	0	4198	1722	60	0	1194	0	CYP8B1	3	42916994	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	189266	42916994	155105436	177	143170											
KIAA1143	57456	broad.mit.edu	37	chr3	44795024	44795024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgatatatgattcttccatCggctggagttggttcttcat	9	8	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:44795024C>T	uc011bac.1	-	3	353	c.274G>A	c.(274-276)GAT>AAT	p.D92N		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	92											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		ATTCTTCCATCGGCTGGAGTT	0.343													T	44795024	C	T	44795024	3	4	279	1	0	0	0	0	1	0	0	0	8209	884	31	1	194	1	KIAA1143	3	44795024	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1878030	44795024	153227406	178	143171											
CDCP1	64866	broad.mit.edu	37	chr3	45136923	45136923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggagccagatgtcagggTgaggttgctactgcaggtcc	15	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:45136923T>C	uc003com.2	-	5	1297	c.1162A>G	c.(1162-1164)ACC>GCC	p.T388A		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	388	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GATGTCAGGGTGAGGTTGCTA	0.502													C	45136923	T	C	45136923	3	2	279	1	0	0	0	0	1	0	0	0	3093	1696	59	3	1368	3	CDCP1	3	45136923	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	341899	45136923	152885507	179	143172											
FYCO1	79443	broad.mit.edu	37	chr3	45965194	45965194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtagatgccgggtgtgcGaaccttgagctggccctgga	15	10	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:45965194G>A	uc003cpb.3	-	17	4521	c.4315C>T	c.(4315-4317)CGC>TGC	p.R1439C	FYCO1_uc011bal.1_Missense_Mutation_p.R1459C	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1439	GOLD.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCGGGTGTGCGAACCTTGAGC	0.557													A	45965194	G	A	45965194	3	1	279	1	0	0	0	0	1	0	0	0	6125	1058	37	1	129	1	FYCO1	3	45965194	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	828271	45965194	152057236	180	143173											
PTPN23	25930	broad.mit.edu	37	chr3	47453790	47453790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctggtgtgggccgcaCgggagcctttgcactgctct	14	13	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:47453790C>T	uc003crf.1	+	23	4292	c.4196C>T	c.(4195-4197)ACG>ATG	p.T1399M	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.T1269M|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1399	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGGGCCGCACGGGAGCCTTT	0.632													T	47453790	C	T	47453790	3	4	279	1	0	0	0	0	1	0	0	0	12788	536	19	1	4286	1	PTPN23	3	47453790	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1488596	47453790	150568640	181	143174											
DHX30	22907	broad.mit.edu	37	chr3	47882645	47882645	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccatgacccagcaggattcCcacgctccactcagggactc	8	17	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:47882645C>A	uc003cru.2	+	7	1071	c.645C>A	c.(643-645)TCC>TCA	p.S215S	DHX30_uc003crs.2_Silent_p.S176S|DHX30_uc003crt.2_Silent_p.S176S|DHX30_uc010hjr.1_Silent_p.S243S	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	215						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGCAGGATTCCCACGCTCCAC	0.567													A	47882645	C	A	47882645	2	1	279	1	0	0	0	0	0	0	0	1	4504	610	22	5		5	DHX30	3	47882645	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	428855	47882645	150139785	182	143175											
CELSR3	1951	broad.mit.edu	37	chr3	48698423	48698423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacctgcgccacgtagcGcttctcgctgaactgaggag	13	14	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:48698423G>A	uc003cul.2	-	1	1926	c.1645C>T	c.(1645-1647)CGC>TGC	p.R549C	CELSR3_uc003cuf.1_Missense_Mutation_p.R619C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	549	Extracellular (Potential).|Cadherin 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			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACGTAGCGCTTCTCGCTG	0.647													A	48698423	G	A	48698423	3	1	279	1	0	0	0	0	1	0	0	0	3223	1087	38	1	8433	1	CELSR3	3	48698423	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	815778	48698423	149324007	183	143176											
BSN	8927	broad.mit.edu	37	chr3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagttctctacacagaCgccaagtccagcccctgcct	8	16	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:49691512C>T	uc003cxe.3	+	5	4637	c.4523C>T	c.(4522-4524)ACG>ATG	p.T1508M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622													T	49691512	C	T	49691512	3	4	279	1	0	0	0	0	1	0	0	0	1530	536	19	1	4541	1	BSN	3	49691512	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	993089	49691512	148330918	184	143177											
CAMKV	79012	broad.mit.edu	37	chr3	49899527	49899527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttccgcaccttgcggcCgtcccgcttctggaacttct	9	16	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:49899527C>T	uc003cxt.1	-	3	371	c.178G>A	c.(178-180)GGC>AGC	p.G60S	CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Missense_Mutation_p.G60S|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.G60S|CAMKV_uc011bcz.1_Silent_p.T36T|CAMKV_uc011bda.1_Missense_Mutation_p.G60S|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	60	Protein kinase.		G -> S (in an ovarian serous carcinoma sample; somatic mutation).			cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.G60S(1)		ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACCTTGCGGCCGTCCCGCTTC	0.597													T	49899527	C	T	49899527	3	4	279	1	0	0	0	0	1	0	0	0	2608	652	23	1	1363	1	CAMKV	3	49899527	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	208015	49899527	148122903	185	143178											
GNAT1	2779	broad.mit.edu	37	chr3	50231088	50231088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaccagctcaacgactcGgcgggctagtgagcgcgcgg	16	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:50231088G>A	uc003cym.2	+	4	557	c.441G>A	c.(439-441)TCG>TCA	p.S147S	GNAT1_uc003cyl.2_Silent_p.S147S	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	147					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCAACGACTCGGCGGGCTAGT	0.498													A	50231088	G	A	50231088	2	1	279	1	0	0	0	0	0	0	0	1	6511	1103	39	1		1	GNAT1	3	50231088	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	331561	50231088	147791342	186	143179											
RAD54L2	23132	broad.mit.edu	37	chr3	51696873	51696873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcatctgccagcccccGtgcagccgtatgaacacggg	13	14	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:51696873G>A	uc011bdt.1	+	22	3966	c.3841G>A	c.(3841-3843)GTG>ATG	p.V1281M	RAD54L2_uc003dbh.2_Missense_Mutation_p.V870M|RAD54L2_uc011bdu.1_Missense_Mutation_p.V975M|RAD54L2_uc003dbj.2_Missense_Mutation_p.V607M	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1281						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCAGCCCCCGTGCAGCCGTA	0.622													A	51696873	G	A	51696873	3	1	279	1	0	0	0	0	1	0	0	0	12994	1145	40	1	3923	1	RAD54L2	3	51696873	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1465785	51696873	146325557	187	143180											
STAB1	23166	broad.mit.edu	37	chr3	52539377	52539377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctaccgaggccttcagcCgctttgaaaccatcctggag	9	15	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:52539377C>T	uc003dej.2	+	14	1635	c.1561C>T	c.(1561-1563)CGC>TGC	p.R521C	STAB1_uc003dei.1_Missense_Mutation_p.R521C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	521	Extracellular (Potential).|FAS1 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			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		GGCCTTCAGCCGCTTTGAAAC	0.597													T	52539377	C	T	52539377	3	4	279	1	0	0	0	0	1	0	0	0	15236	652	23	1	1615	1	STAB1	3	52539377	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	842504	52539377	145483053	188	143181											
ITIH4	3700	broad.mit.edu	37	chr3	52850920	52850920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggcatcactgagaatagCgtctccttccacttgtacgc	9	14	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:52850920C>T	uc003dfz.2	-	21	2487	c.2451G>A	c.(2449-2451)ACG>ACA	p.T817T	ITIH4_uc011bel.1_Silent_p.T531T|ITIH4_uc003dfy.2_Silent_p.T612T|ITIH4_uc011bem.1_Silent_p.T822T|ITIH4_uc011ben.1_Silent_p.T787T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	817				ET -> QR (in Ref. 5; AA sequence).	acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				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)		CTGAGAATAGCGTCTCCTTCC	0.587													T	52850920	C	T	52850920	2	4	279	1	0	0	0	0	0	0	0	1	7906	755	27	1		1	ITIH4	3	52850920	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	311543	52850920	145171510	189	143182											
RFT1	91869	broad.mit.edu	37	chr3	53126559	53126559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccaagatgaagcccacGctgccacaccaacgggtcaa	10	14	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:53126559G>A	uc003dgj.2	-	12	1338	c.1284C>T	c.(1282-1284)AGC>AGT	p.S428S	RFT1_uc003dgk.2_Silent_p.S389S	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	428	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				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)		TGAAGCCCACGCTGCCACACC	0.557													A	53126559	G	A	53126559	2	1	279	1	0	0	0	0	0	0	0	1	13257	1078	38	1		1	RFT1	3	53126559	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	275639	53126559	144895871	190	143183											
ACTR8	93973	broad.mit.edu	37	chr3	53906528	53906528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgattccaaaagttgcGgggtaaaacaaagccattgg	10	9	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:53906528G>A	uc003dhd.2	-	10	1244	c.1185C>T	c.(1183-1185)CCC>CCT	p.P395P	ACTR8_uc003dhb.2_Silent_p.P100P|ACTR8_uc003dhc.2_Silent_p.P284P	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	395					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				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)		CAAAAGTTGCGGGGTAAAACA	0.438													A	53906528	G	A	53906528	2	1	279	1	0	0	0	0	0	0	0	1	217	1103	39	1		1	ACTR8	3	53906528	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	779969	53906528	144115902	191	143184											
CACNA2D3	55799	broad.mit.edu	37	chr3	54596940	54596940	+	Frame_Shift_Del	DEL	T	T	-													actttggaagtgcaaagggcTtttttaggcagtatccgggt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:54596940delT	uc003dhf.2	+	6	706	c.658delT	c.(658-660)TTTfs	p.F220fs	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Frame_Shift_Del_p.F126fs|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	220	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCAAAGGGCTTTTTTAGGCA	0.378													-	54596940	T	-	54596940	7	5	279	1	0	1	0	1	0	0	0	0	2550	1609	56	0	680	0	CACNA2D3	3	54596940	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	690412	54596940	143425490	192	143185											
ARF4	378	broad.mit.edu	37	chr3	57582804	57582804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcccctcactcacccaTcaaaatgcgcatctgcttct	5	18	5	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:57582804T>C	uc003dix.3	-	1	412	c.64A>G	c.(64-66)ATG>GTG	p.M22V	ARF4_uc003diy.3_RNA|ARF4_uc010hnd.2_Missense_Mutation_p.M22V|ARF4_uc003diz.3_RNA	NM_001660	NP_001651	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	22					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CACTCACCCATCAAAATGCGC	0.587													C	57582804	T	C	57582804	3	2	279	1	0	0	0	0	1	0	0	0	846	1435	50	3	502	3	ARF4	3	57582804	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2985864	57582804	140439626	193	143186											
FLNB	2317	broad.mit.edu	37	chr3	58089788	58089789	+	Frame_Shift_Ins	INS	-	-	G													tacagcattgccatcacatgINSggggggacaccacattccaa					rs145086495		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:58089787_58089788T>TG	uc003djj.2	+	9	1750_1751	c.1585_1586T>TG	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					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)		TGCCATCACATGGGGGGGACAC	0.594													G	58089789	-	G	58089788	7	5	279	1	0	1	1	0	0	0	0	0	5934	1357	47	0	1624	0	FLNB	3	58089788	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	506984	58089788	139932642	194	143187											
FLNB	2317	broad.mit.edu	37	chr3	58109159	58109159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagctggcctccttagcGtcgactgctcggaagcggga	15	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:58109159G>A	uc003djj.2	+	21	3631	c.3466G>A	c.(3466-3468)GTC>ATC	p.V1156I	FLNB_uc010hne.2_Missense_Mutation_p.V1156I|FLNB_uc003djk.2_Missense_Mutation_p.V1156I|FLNB_uc010hnf.2_Missense_Mutation_p.V1156I|FLNB_uc003djl.2_Missense_Mutation_p.V987I|FLNB_uc003djm.2_Missense_Mutation_p.V987I	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1156	Interaction with FBLP1.|Filamin 10.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTCCTTAGCGTCGACTGCTC	0.582													A	58109159	G	A	58109159	3	1	279	1	0	0	0	0	1	0	0	0	5934	1145	40	1	3548	1	FLNB	3	58109159	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	19371	58109159	139913271	195	143188											
FAM3D	131177	broad.mit.edu	37	chr3	58620027	58620027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaatggcttcgggggcatGcagccctccatctccagcag	11	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:58620027G>A	uc003dkq.2	-	10	951	c.654C>T	c.(652-654)TGC>TGT	p.C218C		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	218					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TCGGGGGCATGCAGCCCTCCA	0.552													A	58620027	G	A	58620027	2	1	279	1	0	0	0	0	0	0	0	1	5559	1311	46	2		2	FAM3D	3	58620027	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	510868	58620027	139402403	196	143189											
SLC25A26	115286	broad.mit.edu	37	chr3	66293695	66293695	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcatcttcatatttgAcacctatgaaacatatgttg	5	8	3	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:66293695A>T	uc011bfq.1	+	4	987	c.259A>T	c.(259-261)ACA>TCA	p.T87S	SLC25A26_uc011bfs.1_5'UTR|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.T87S|SLC25A26_uc003dmt.2_5'UTR	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	87	Solcar 2.|Helical; Name=3; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TTCATATTTGACACCTATGAA	0.343													T	66293695	A	T	66293695	3	4	279	1	0	0	0	0	1	0	0	0	14489	275	10	5	71	5	SLC25A26	3	66293695	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	7673668	66293695	131728735	197	143190											
FOXP1	27086	broad.mit.edu	37	chr3	71090609	71090609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccaaactgctgtgattgtTgcctgtggtttcttctgcag	10	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:71090609T>C	uc003dol.2	-	7	1062	c.739A>G	c.(739-741)AAC>GAC	p.N247D	FOXP1_uc003dom.2_Missense_Mutation_p.N171D|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.N247D|FOXP1_uc003dop.2_Missense_Mutation_p.N247D|FOXP1_uc003doq.1_Missense_Mutation_p.N246D|FOXP1_uc003doi.2_Missense_Mutation_p.N147D|FOXP1_uc003doj.2_Missense_Mutation_p.N147D|FOXP1_uc003dok.2_Missense_Mutation_p.N60D|FOXP1_uc003dor.1_Missense_Mutation_p.N25D	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	247					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTGATTGTTGCCTGTGGTT	0.448			T	PAX5	ALL								C	71090609	T	C	71090609	3	2	279	1	0	0	0	0	1	0	0	0	6026	1812	63	3	1338	3	FOXP1	3	71090609	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	4796914	71090609	126931821	198	143191											
PROS1	5627	broad.mit.edu	37	chr3	93605255	93605255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccagcaatccattttcCggcttaaaaaggggtccagg	10	10	0	0	rs148869673	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:93605255C>T	uc003drb.3	-	11	1589	c.1248G>A	c.(1246-1248)CCG>CCA	p.P416P	PROS1_uc010hoo.2_Silent_p.P285P|PROS1_uc003dqz.3_Silent_p.P285P	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	416	Laminin G-like 1.				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			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATCCATTTTCCGGCTTAAAAA	0.373													T	93605255	C	T	93605255	2	4	279	1	0	0	0	0	0	0	0	1	12558	639	23	1		1	PROS1	3	93605255	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	22514646	93605255	104417175	199	143192											
EPHA6	285220	broad.mit.edu	37	chr3	96706798	96706798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcttggaaggtgcatcTgcagtacaggatatgaagaa	11	7	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:96706798T>C	uc010how.1	+	3	1118	c.1075T>C	c.(1075-1077)TGC>CGC	p.C359R	EPHA6_uc003drp.1_Missense_Mutation_p.C359R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	264	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AAGGTGCATCTGCAGTACAGG	0.378													C	96706798	T	C	96706798	3	2	279	1	0	0	0	0	1	0	0	0	5171	1580	55	3	1085	3	EPHA6	3	96706798	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3101543	96706798	101315632	200	143193											
IMPG2	50939	broad.mit.edu	37	chr3	100964796	100964796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccatcttcgagggaaaggCtaatttgtgtgtagacacta	11	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:100964796C>T	uc003duq.1	-	12	1596	c.1393G>A	c.(1393-1395)GCC>ACC	p.A465T	IMPG2_uc011bhe.1_Missense_Mutation_p.A328T	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	465	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGGGAAAGGCTAATTTGTGT	0.507													T	100964796	C	T	100964796	3	4	279	1	0	0	0	0	1	0	0	0	7729	797	28	2	2364	2	IMPG2	3	100964796	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4257998	100964796	97057634	201	143194											
TAGLN3	29114	broad.mit.edu	37	chr3	111730715	111730715	+	Splice_Site	DEL	A	A	-													gccatcctggtttcacaggtAaaagcctcttccttgccccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:111730714_111730714TA>T	uc003dym.3	+	4	836	c.458_splice	c.e4+2	p.R153_splice	TAGLN3_uc003dyl.3_Splice_Site_p.R153_splice|TAGLN3_uc003dyn.3_Splice_Site_p.R153_splice|TAGLN3_uc003dyo.3_Splice_Site_p.R153_splice	NM_001008272	NP_037391	Q9UI15	TAGL3_HUMAN	Homo sapiens transgelin 3 (TAGLN3), transcript variant 2, mRNA.	153					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						GTTTCACAGGTAAAAGCCTCT	0.552													-	111730715	A	-	111730715	8	5	279	1	0	1	0	1	0	0	1	0	15537	377	13	0		0	TAGLN3	3	111730715	Splice_Site	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	10765919	111730715	86291715	202	143195											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					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)		GTGTGCCTGCAGGGGGGGTCC	0.632													-	114058003	G	-	114058003	7	5	279	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	2327288	114058003	83964427	203	143196											
CD86	942	broad.mit.edu	37	chr3	121828213	121828213	+	Frame_Shift_Del	DEL	A	A	-													ttttctgtctaattctatggAaatggaagaagaagaagcgg					rs144220043		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:121828212_121828212GA>G	uc003eet.3	+	4	932	c.804_804GA>G	c.(802-804)tggfs	p.W268fs	CD86_uc011bjo.2_Frame_Shift_Del_p.W186fs|CD86_uc011bjp.2_Frame_Shift_Del_p.W156fs|CD86_uc003eeu.3_Frame_Shift_Del_p.W262fs|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	268					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding	p.W268*(2)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAATTCTATGGAAATGGAAGA	0.468													-	121828213	A	-	121828213	7	5	279	1	0	1	0	1	0	0	0	0	3043	247	9	0	823	0	CD86	3	121828213	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	7770210	121828213	76194217	204	143197											
CASR	846	broad.mit.edu	37	chr3	121981056	121981056	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacagctcgacagccttcCgacccctctgtacaggggat	10	15	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:121981056C>T	uc003eev.3	+	4	1546	c.1174C>T	c.(1174-1176)CGA>TGA	p.R392*	CASR_uc003eew.3_Nonsense_Mutation_p.R392*	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	392	Extracellular (Potential).				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GACAGCCTTCCGACCCCTCTG	0.493													T	121981056	C	T	121981056	4	4	279	1	0	0	0	0	0	1	0	0	2682	644	23	1	1184	1	CASR	3	121981056	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	152843	121981056	76041374	205	143198											
EEFSEC	60678	broad.mit.edu	37	chr3	127983467	127983467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttttctagctcctgaCgtcccagatttccatcccaa	4	15	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:127983467C>T	uc003eki.2	+	4	667	c.629C>T	c.(628-630)ACG>ATG	p.T210M	EEFSEC_uc003ekj.2_Intron	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	210						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						TAGCTCCTGACGTCCCAGATT	0.567													T	127983467	C	T	127983467	3	4	279	1	0	0	0	0	1	0	0	0	4931	536	19	1	643	1	EEFSEC	3	127983467	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6002411	127983467	70038963	206	143199											
KIAA1257	57501	broad.mit.edu	37	chr3	128696934	128696934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttttcttgttttcctggCggatgttcctggttcgactc	10	9	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:128696934C>T	uc003elj.3	-	5	958	c.762G>A	c.(760-762)CCG>CCA	p.P254P	KIAA1257_uc003elg.1_Silent_p.P254P|KIAA1257_uc003eli.3_Silent_p.P142P	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	254											0						GTTTTCCTGGCGGATGTTCCT	0.433													T	128696934	C	T	128696934	2	4	279	1	0	0	0	0	0	0	0	1	8218	755	27	1		1	KIAA1257	3	128696934	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	713467	128696934	69325496	207	143200											
COL6A6	131873	broad.mit.edu	37	chr3	130377519	130377519	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgcttctgcttcttttaGattgacgacactggcacatt	8	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:130377519G>T	uc010htl.2	+	33	5765	c.5734_splice	c.e33-1	p.I1912_splice	COL6A6_uc003eni.3_Splice_Site_p.I11_splice	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GCTTCTTTTAGATTGACGACA	0.478													T	130377519	G	T	130377519	5	4	279	1	0	0	0	0	0	0	1	0	3703	956	33	5	5863	5	COL6A6	3	130377519	Splice_Site	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1680585	130377519	67644911	208	143201											
AMOTL2	51421	broad.mit.edu	37	chr3	134086562	134086562	+	Frame_Shift_Del	DEL	G	G	-													gagcagctggatgtgggggaGgggggtgctcctgagattgc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:134086561_134086561AG>A	uc003eqf.2	-	2	1110	c.993_993CT>T	c.(991-993)cctfs	p.P331fs	AMOTL2_uc003eqg.1_Frame_Shift_Del_p.P273fs|AMOTL2_uc003eqh.1_Frame_Shift_Del_p.P273fs|AMOTL2_uc003eqe.1_5'Flank	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	273										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GATGTGGGGGAGGGGGGTGCT	0.652													-	134086562	G	-	134086562	7	5	279	1	0	1	0	1	0	0	0	0	584	1000	35	0	1556	0	AMOTL2	3	134086562	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	3709043	134086562	63935868	209	143202											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721069	135721069	+	Frame_Shift_Del	DEL	A	A	-													ttgaaatgctccgaggatttAaaaaaatgcacagacatcat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:135721068_135721068TA>T	uc003eqv.2	+	1	1345	c.728_728TA>T	c.(727-729)ttafs	p.L243fs	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	243					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						TCCGAGGATTTAAAAAAATGC	0.328													-	135721069	A	-	135721069	7	5	279	1	0	1	0	1	0	0	0	0	12388	359	13	0	731	0	PPP2R3A	3	135721069	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	1634507	135721069	62301361	210	143203											
MSL2	55167	broad.mit.edu	37	chr3	135871069	135871069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagtattacatacgtcAatcgtatttgaatgttcagg	7	7	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:135871069A>G	uc003eqx.1	-	2	1387	c.654T>C	c.(652-654)ATT>ATC	p.I218I	MSL2_uc011bmb.1_Silent_p.I144I	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	218					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TACATACGTCAATCGTATTTG	0.393													G	135871069	A	G	135871069	2	3	279	1	0	0	0	0	0	0	0	1	9878	126	5	3		3	MSL2	3	135871069	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	150000	135871069	62151361	211	143204											
MRPS22	56945	broad.mit.edu	37	chr3	139067040	139067040	+	Frame_Shift_Del	DEL	A	A	-													gaggcagctaaagtacgattAaaaatgccaccagttctgga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:139067039_139067039TA>T	uc003etb.3	+	2	448	c.377_377TA>T	c.(376-378)ttafs	p.L126fs	MRPS22_uc003etc.3_Non-coding_Transcript	NM_020191	NP_064576	P82650	RT22_HUMAN	Homo sapiens mitochondrial ribosomal protein S22 (MRPS22), nuclear gene encoding mitochondrial protein, mRNA.	126						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AAAGTACGATTAAAAATGCCA	0.358													-	139067040	A	-	139067040	7	5	279	1	0	1	0	1	0	0	0	0	9833	359	13	0	388	0	MRPS22	3	139067040	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	3195971	139067040	58955390	212	143205											
SPSB4	92369	broad.mit.edu	37	chr3	140785540	140785540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatggccagtacctgggCgtggccttccgaggtctcaa	15	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:140785540C>T	uc003ett.2	+	2	848	c.594C>T	c.(592-594)GGC>GGT	p.G198G	SPSB4_uc010hum.2_Silent_p.G198G	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	198	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						AGTACCTGGGCGTGGCCTTCC	0.632													T	140785540	C	T	140785540	2	4	279	1	0	0	0	0	0	0	0	1	15114	755	27	1		1	SPSB4	3	140785540	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1718500	140785540	57236890	213	143206											
TRPC1	7220	broad.mit.edu	37	chr3	142467219	142467219	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgctcttaaaacaggatgtAtctctacccaagccccatgc	6	13	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:142467219A>T	uc003evc.2	+	4	685	c.549A>T	c.(547-549)GTA>GTT	p.V183V	TRPC1_uc003evb.2_Silent_p.V149V	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	183	Cytoplasmic (Potential).|ANK 4.				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			ovary(2)	2						AACAGGATGTATCTCTACCCA	0.398													T	142467219	A	T	142467219	2	4	279	1	0	0	0	0	0	0	0	1	16575	436	16	5		5	TRPC1	3	142467219	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1681679	142467219	55555211	214	143207											
PAQR9	344838	broad.mit.edu	37	chr3	142682066	142682066	+	Frame_Shift_Del	DEL	G	G	-													gcagcggcttggcagacgctGgggggtcccgggaggcggca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:142682066delG	uc003evg.2	-	1	113	c.113delC	c.(112-114)CCAfs	p.P38fs	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	38	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGCAGACGCTGGGGGGTCCCG	0.751													-	142682066	G	-	142682066	7	5	279	1	0	1	0	1	0	0	0	0	11442	1348	47	0	1024	0	PAQR9	3	142682066	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	214847	142682066	55340364	215	143208											
SR140	23350	broad.mit.edu	37	chr3	142773947	142773948	+	Frame_Shift_Ins	INS	-	-	A													attctcctagagatgttagcINSaaaaaagccaaaaggtaaat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:142773947_142773948insA	uc003evh.1	+	27	3036_3037	c.2937_2938insA	c.(2935-2940)AGCAAAfs	p.S979fs	SR140_uc003evi.1_Frame_Shift_Ins_p.S570fs|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Frame_Shift_Ins_p.S978fs	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	979_980	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						GAGATGTTAGCAAAAAAGCCAA	0.391													A	142773948	-	A	142773947	7	5	279	1	0	1	1	0	0	0	0	0	15130	709	25	0	3043	0	SR140	3	142773947	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	91881	142773947	55248483	216	143209											
IGSF10	285313	broad.mit.edu	37	chr3	151171285	151171285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tataggagaccatctcttgaGggagggaggtcaggaagtta	15	5	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:151171285G>T	uc011bod.1	-	3	602	c.602C>A	c.(601-603)CCT>CAT	p.P201H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	201	LRR 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATCTCTTGAGGGAGGGAGGT	0.433													T	151171285	G	T	151171285	3	4	279	1	0	0	0	0	1	0	0	0	7597	1000	35	5	7333	5	IGSF10	3	151171285	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8397338	151171285	46851145	217	143210											
PLCH1	23007	broad.mit.edu	37	chr3	155200527	155200527	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttttccttgattttcacAccatgcagatcttgtgtggg	8	11	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:155200527A>G	uc011bok.1	-	23	3589	c.3312T>C	c.(3310-3312)GGT>GGC	p.G1104G	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.G1066G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1104					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATTTTCACACCATGCAGAT	0.473													G	155200527	A	G	155200527	2	3	279	1	0	0	0	0	0	0	0	1	12037	146	6	3		3	PLCH1	3	155200527	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	4029242	155200527	42821903	218	143211											
PLCH1	23007	broad.mit.edu	37	chr3	155212245	155212246	+	Frame_Shift_Ins	INS	-	-	T													aaatcatgaactgctctgatINSttttgctgaacaacctgatg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:155212244_155212245A>AT	uc021xge.1	-	14	2197_2198	c.1920_1921T>AT	c.(1918-1923)aaatcafs	p.K640fs	PLCH1_uc021xgd.1_Frame_Shift_Ins_p.K640fs|PLCH1_uc021xgf.1_Frame_Shift_Ins_p.K622fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	640	PI-PLC Y-box.				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)			AACTGCTCTGATTTTTGCTGAA	0.411													T	155212246	-	T	155212245	7	5	279	1	0	1	1	0	0	0	0	0	12037	1490	52	0	3212	0	PLCH1	3	155212245	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	11718	155212245	42810185	219	143212											
IL12A	3592	broad.mit.edu	37	chr3	159713213	159713213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaatttcaacagtgagaCtgtgccacaaaaatcctccc	6	13	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:159713213C>T	uc003fcx.2	+	7	844	c.629C>T	c.(628-630)ACT>ATT	p.T210I	uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	interleukin 12A precursor	176					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAGTGAGACTGTGCCACAA	0.368													T	159713213	C	T	159713213	3	4	279	1	0	0	0	0	1	0	0	0	7624	565	20	4	655	4	IL12A	3	159713213	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4500968	159713213	38309217	220	143213											
SLC7A14	57709	broad.mit.edu	37	chr3	170216628	170216628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgatggtcacgatgaccGcgatcaacagagccagaagg	12	10	2	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:170216628G>A	uc003fgz.2	-	4	903	c.587C>T	c.(586-588)GCG>GTG	p.A196V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	196	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			CACGATGACCGCGATCAACAG	0.473													A	170216628	G	A	170216628	3	1	279	1	0	0	0	0	1	0	0	0	14696	1087	38	1	1748	1	SLC7A14	3	170216628	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10503415	170216628	27805802	221	143214											
ECT2	1894	broad.mit.edu	37	chr3	172520688	172520688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgaagcttagtacagcGggttgaaacaatttctctag	9	9	2	1	rs146823982		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:172520688G>A	uc003fii.2	+	19	2069	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	ECT2_uc010hwv.1_Missense_Mutation_p.R675Q|ECT2_uc003fih.2_Missense_Mutation_p.R643Q|ECT2_uc003fij.1_Missense_Mutation_p.R644Q|ECT2_uc003fik.1_Missense_Mutation_p.R644Q|ECT2_uc003fil.1_Missense_Mutation_p.R675Q|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	644	PH.				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(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTAGTACAGCGGGTTGAAACA	0.378													A	172520688	G	A	172520688	3	1	279	1	0	0	0	0	1	0	0	0	4901	1116	39	1	2001	1	ECT2	3	172520688	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2304060	172520688	25501742	222	143215											
KCNMB2	10242	broad.mit.edu	37	chr3	178546038	178546038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttaattgctccttcagCtgtggtccagactgctggaa	9	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:178546038C>T	uc003fjd.2	+	4	643	c.300C>T	c.(298-300)AGC>AGT	p.S100S	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.S100S|KCNMB2_uc003fjf.2_Silent_p.S100S|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	100	Extracellular (Potential).				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			ovary(1)	1	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)			GCTCCTTCAGCTGTGGTCCAG	0.512													T	178546038	C	T	178546038	2	4	279	1	0	0	0	0	0	0	0	1	8075	796	28	2		2	KCNMB2	3	178546038	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6025350	178546038	19476392	223	143216											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	279	1	0	0	0	0	1	0	0	0	11913	1291	45	4	1667	4	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	390053	178936091	19086339	224	143217											
DVL3	1857	broad.mit.edu	37	chr3	183884279	183884279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaatgacgatgcagtcCgggtactgcgggagattgtg	16	6	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:183884279C>T	uc003fms.2	+	9	1089	c.949C>T	c.(949-951)CGG>TGG	p.R317W	DVL3_uc011bqw.1_Missense_Mutation_p.R317W|DVL3_uc003fmt.2_Silent_p.S5S|DVL3_uc003fmu.2_Missense_Mutation_p.R149W	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	317	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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGATGCAGTCCGGGTACTGCG	0.537													T	183884279	C	T	183884279	3	4	279	1	0	0	0	0	1	0	0	0	4837	643	23	1	983	1	DVL3	3	183884279	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4948188	183884279	14138151	225	143218											
ABCF3	55324	broad.mit.edu	37	chr3	183908990	183908990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactacgatccgaagcacGtcatcttcagtcgcctctct	6	15	5	0	rs113949696		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:183908990G>A	uc003fmz.2	+	16	1649	c.1516G>A	c.(1516-1518)GTC>ATC	p.V506I	ABCF3_uc003fna.2_Missense_Mutation_p.V500I|ABCF3_uc003fnb.2_Missense_Mutation_p.V187I	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	506	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCGAAGCACGTCATCTTCAG	0.542													A	183908990	G	A	183908990	3	1	279	1	0	0	0	0	1	0	0	0	67	1145	40	1	1578	1	ABCF3	3	183908990	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	24711	183908990	14113440	226	143219											
CLCN2	1181	broad.mit.edu	37	chr3	184075423	184075423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctccaataggtgccgCgaagcagcagcccaccccca	8	19	0	0	rs149439531		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:184075423C>T	uc003foi.2	-	7	881	c.757G>A	c.(757-759)GCG>ACG	p.A253T	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A253T|CLCN2_uc011brl.1_Missense_Mutation_p.A253T|CLCN2_uc011brm.1_Missense_Mutation_p.A209T|CLCN2_uc011brn.1_Missense_Mutation_p.A253T	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	253						chloride channel complex	voltage-gated chloride channel activity				0	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)	ATAGGTGCCGCGAAGCAGCAG	0.647													T	184075423	C	T	184075423	3	4	279	1	0	0	0	0	1	0	0	0	3463	768	27	1	2011	1	CLCN2	3	184075423	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	166433	184075423	13947007	227	143220											
HRG	3273	broad.mit.edu	37	chr3	186395311	186395311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatccccatggacaccatcCccactgccatgatttccaag	5	18	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:186395311C>A	uc003fqq.2	+	7	1240	c.1217C>A	c.(1216-1218)CCC>CAC	p.P406H		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	406	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ggacaccatccccactgccat	0.249													A	186395311	C	A	186395311	3	1	279	1	0	0	0	0	1	0	0	0	7354	623	22	5	1243	5	HRG	3	186395311	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2319888	186395311	11627119	228	143221											
LRRC15	131578	broad.mit.edu	37	chr3	194080887	194080887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatagagccaaagctcccGcaggttgggcatgggcccga	14	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:194080887G>A	uc003ftu.2	-	2	972	c.886C>T	c.(886-888)CGG>TGG	p.R296W	LRRC15_uc003ftt.2_Missense_Mutation_p.R302W	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	296	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAAAGCTCCCGCAGGTTGGGC	0.552													A	194080887	G	A	194080887	3	1	279	1	0	0	0	0	1	0	0	0	8970	1086	38	1	863	1	LRRC15	3	194080887	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	7685576	194080887	3941543	229	143222											
TMEM44	93109	broad.mit.edu	37	chr3	194344395	194344395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactggccctgagctgccGcctcctcttcctctctcggg	9	19	2	1	rs141093359		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:194344395G>A	uc010hzn.2	-	4	557	c.388C>T	c.(388-390)CGG>TGG	p.R130W	TMEM44_uc003fue.2_Missense_Mutation_p.R130W|TMEM44_uc003fud.2_Missense_Mutation_p.R130W|TMEM44_uc003fuf.2_Missense_Mutation_p.R130W|TMEM44_uc011bsv.1_Missense_Mutation_p.R130W|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	130	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-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;9.06e-06)		CTGAGCTGCCGCCTCCTCTTC	0.627													A	194344395	G	A	194344395	3	1	279	1	0	0	0	0	1	0	0	0	16165	1086	38	1	1105	1	TMEM44	3	194344395	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	263508	194344395	3678035	230	143223											
MUC4	4585	broad.mit.edu	37	chr3	195501057	195501057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacgtagagggaatcacGgagagaggagccaaggggga	17	7	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr3:195501057G>A	uc011bto.1	-	5	13139	c.12679C>T	c.(12679-12681)CGT>TGT	p.R4227C	MUC4_uc003fuz.2_Silent_p.S34S|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.R96C|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.R96C|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.R119C|MUC4_uc003fvp.2_Missense_Mutation_p.R68C|MUC4_uc010hzu.1_Missense_Mutation_p.R967C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1112					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		AGGGAATCACGGAGAGAGGAG	0.667													A	195501057	G	A	195501057	3	1	279	1	0	0	0	0	1	0	0	0	9978	1116	39	1	3263	1	MUC4	3	195501057	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1156662	195501057	2521373	231	143224											
PIGG	54872	broad.mit.edu	37	chr4	533012	533012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagttttcacgtacatcGttttggtgacatctctgcgt	8	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:533012G>A	uc003gak.3	+	13	2942	c.2806G>A	c.(2806-2808)GTT>ATT	p.V936I	PIGG_uc003gaj.3_Missense_Mutation_p.V928I|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V803I|PIGG_uc003gal.3_Missense_Mutation_p.V847I	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	936	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.V928I(1)		central_nervous_system(2)|ovary(1)|skin(1)	4						CACGTACATCGTTTTGGTGAC	0.398													A	533012	G	A	533012	3	1	279	1	0	0	0	0	1	0	0	0	11888	1145	40	1	2856	1	PIGG	4	533012	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		533012	190621264	232	143225											
TMEM175	84286	broad.mit.edu	37	chr4	951613	951613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctattcactgttctcagcGaagacaacgtcccggacccc	7	15	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:951613G>A	uc003gbq.2	+	11	942	c.844G>A	c.(844-846)GAA>AAA	p.E282K	TMEM175_uc003gbr.2_Missense_Mutation_p.E200K|TMEM175_uc003gbu.2_Missense_Mutation_p.E200K|TMEM175_uc003gbs.2_Missense_Mutation_p.E165K|TMEM175_uc003gbt.2_Missense_Mutation_p.E165K|TMEM175_uc003gbv.2_Missense_Mutation_p.E165K|TMEM175_uc010ibm.2_Missense_Mutation_p.E98K	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	282						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTTCTCAGCGAAGACAACGT	0.652													A	951613	G	A	951613	3	1	279	1	0	0	0	0	1	0	0	0	16088	1072	37	1	882	1	TMEM175	4	951613	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	418601	951613	190202663	233	143226											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306598	2306598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccgcacccacctcccagCcgtccaggtgcagccgcgag	10	20	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:2306598C>T	uc003gex.1	-	8	1788	c.1469G>A	c.(1468-1470)GGC>GAC	p.G490D	ZFYVE28_uc011bvk.1_Missense_Mutation_p.G420D|ZFYVE28_uc011bvl.1_Missense_Mutation_p.G460D|ZFYVE28_uc003gew.1_Missense_Mutation_p.G376D	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	490					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						CACCTCCCAGCCGTCCAGGTG	0.647													T	2306598	C	T	2306598	3	4	279	1	0	0	0	0	1	0	0	0	17667	739	26	2	1218	2	ZFYVE28	4	2306598	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1354985	2306598	188847678	234	143227											
EVC2	132884	broad.mit.edu	37	chr4	5696067	5696067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttaatacttaccaggcGgtgtgttataggagactctc	10	8	1	1	rs148388393		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:5696067G>A	uc003gij.2	-	3	499	c.445C>T	c.(445-447)CGC>TGC	p.R149C	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.R69C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	149						integral to membrane				large_intestine(3)|ovary(2)	5						CTTACCAGGCGGTGTGTTATA	0.393													A	5696067	G	A	5696067	3	1	279	1	0	0	0	0	1	0	0	0	5286	1116	39	1	3561	1	EVC2	4	5696067	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3389469	5696067	185458209	235	143228											
CCDC96	257236	broad.mit.edu	37	chr4	7043818	7043818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagatggcgcaggtacGcttgctctttctcgggggcc	14	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:7043818G>A	uc003gjv.2	-	1	911	c.848C>T	c.(847-849)GCG>GTG	p.A283V	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	283											0						GCGCAGGTACGCTTGCTCTTT	0.652													A	7043818	G	A	7043818	3	1	279	1	0	0	0	0	1	0	0	0	2874	1087	38	1	823	1	CCDC96	4	7043818	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1347751	7043818	184110458	236	143229											
CPZ	8532	broad.mit.edu	37	chr4	8621094	8621094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtcatcatccccgcccGgatgaagagggctggccgtg	14	12	2	2	rs113699437	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:8621094G>A	uc003glm.2	+	11	1835	c.1709G>A	c.(1708-1710)CGG>CAG	p.R570Q	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R433Q|CPZ_uc003glo.2_Missense_Mutation_p.R559Q|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	570					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						ATCCCCGCCCGGATGAAGAGG	0.577													A	8621094	G	A	8621094	3	1	279	1	0	0	0	0	1	0	0	0	3839	1116	39	1	1751	1	CPZ	4	8621094	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1577276	8621094	182533182	237	143230											
NKX3-2	579	broad.mit.edu	37	chr4	13545921	13545921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcggccaccgatgccgCtgtgcccccgggcgccgggc	16	19	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:13545921C>T	uc003gmx.2	-	1	194	c.118G>A	c.(118-120)GCG>ACG	p.A40T		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	40					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ACCGATGCCGCTGTgcccccg	0.507													T	13545921	C	T	13545921	3	4	279	1	0	0	0	0	1	0	0	0	10456	797	28	2	891	2	NKX3-2	4	13545921	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4924827	13545921	177608355	238	143231											
SLIT2	9353	broad.mit.edu	37	chr4	20512694	20512694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttctaatcttagtgaccTgagcaataatcagatctctg	6	8	4	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:20512694T>C	uc003gpr.1	+	11	1196	c.992T>C	c.(991-993)CTG>CCG	p.L331P	SLIT2_uc003gps.1_Missense_Mutation_p.L331P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	331	LRR 8.				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			central_nervous_system(4)|skin(4)|ovary(3)	11						CTTAGTGACCTGAGCAATAAT	0.378													C	20512694	T	C	20512694	3	2	279	1	0	0	0	0	1	0	0	0	14740	1580	55	3	1034	3	SLIT2	4	20512694	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	6966773	20512694	170641582	239	143232											
RBPJ	3516	broad.mit.edu	37	chr4	26426086	26426086	+	Frame_Shift_Del	DEL	T	T	-													gttcacagcagtggggagccTtttttattcatctctgtgag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:26426085_26426085CT>C	uc003grx.2	+	6	893	c.657_657CT>C	c.(655-657)gccfs	p.A219fs	RBPJ_uc003gry.2_Frame_Shift_Del_p.A204fs|RBPJ_uc003grz.2_Frame_Shift_Del_p.A219fs|RBPJ_uc011bxt.2_Frame_Shift_Del_p.A219fs|RBPJ_uc003gsa.2_Frame_Shift_Del_p.A205fs|RBPJ_uc003gsb.2_Frame_Shift_Del_p.A206fs	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	219					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	p.G218delG(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AGTGGGGAGCCTTTTTTATTC	0.358													-	26426086	T	-	26426086	7	5	279	1	0	1	0	1	0	0	0	0	13161	1609	56	0	743	0	RBPJ	4	26426086	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	5913392	26426086	164728190	240	143233											
C4orf19	55286	broad.mit.edu	37	chr4	37592069	37592069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtactgcaaatactgttcCcccaactcaacccttcctgg	5	16	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:37592069C>T	uc003gsw.3	+	4	575	c.392C>T	c.(391-393)CCC>CTC	p.P131L	C4orf19_uc003gsy.3_Missense_Mutation_p.P131L	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	131											0						AATACTGTTCCCCCAACTCAA	0.597													T	37592069	C	T	37592069	3	4	279	1	0	0	0	0	1	0	0	0	2253	623	22	4	398	4	C4orf19	4	37592069	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	11165983	37592069	153562207	241	143234											
TLR6	10333	broad.mit.edu	37	chr4	38830420	38830420	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattcaatttaatattagtCagttgtaagcaccctaaagt	5	7	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:38830420C>T	uc003gtm.2	-	1	741	c.675G>A	c.(673-675)CTG>CTA	p.L225L	TLR6_uc010ifg.1_Silent_p.L225L	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	225	Extracellular (Potential).				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			ovary(2)	2						TAATATTAGTCAGTTGTAAGC	0.333													T	38830420	C	T	38830420	2	4	279	1	0	0	0	0	0	0	0	1	15952	813	29	4		4	TLR6	4	38830420	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1238351	38830420	152323856	242	143235											
PDS5A	23244	broad.mit.edu	37	chr4	39915250	39915251	+	Frame_Shift_Del	DEL	AA	AA	-													ccgtccaagaaaacattgccAaagaggacgattctgtgttg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:39915249_39915250CAA>C	uc003guv.4	-	8	1513_1514	c.973_974TTG>G	c.(973-975)tggfs	p.W325fs	PDS5A_uc003guw.4_Frame_Shift_Del_p.W325fs	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	325					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						AAAACATTGCCAAAGAGGACGA	0.361													-	39915251	AA	-	39915250	7	5	279	1	0	1	0	1	0	0	0	0	11691	130	5	0	3173	0	PDS5A	4	39915250	Frame_Shift_Del	DEL	AA	TCGA-HU-A4H3-01A-21D-A25D-08	1084830	39915250	151239026	243	143236											
CORIN	10699	broad.mit.edu	37	chr4	47647195	47647196	+	Frame_Shift_Ins	INS	-	-	TC													tggatggacattcccaaagaINStctctctctttacaacctag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:47647195_47647196insTC	uc003gxm.2	-	14	1952_1953	c.1859_1860insGA	c.(1858-1860)GATfs	p.D620fs	CORIN_uc011bzf.1_Frame_Shift_Ins_p.D481fs|CORIN_uc011bzg.1_Frame_Shift_Ins_p.D553fs|CORIN_uc011bzh.1_Frame_Shift_Ins_p.D583fs	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	620	Extracellular (Potential).|LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						ATTCCCAAAGATCTCTCTCTTT	0.371													TC	47647196	-	TC	47647195	7	5	279	1	0	1	1	0	0	0	0	0	3752	330	12	0	1304	0	CORIN	4	47647195	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	7731945	47647195	143507081	244	143237	759	2									
CORIN	10699	broad.mit.edu	37	chr4	47647196	47647197	+	Frame_Shift_Ins	INS	-	-	TC													ggatggacattcccaaagatINSctctctctttacaacctaga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:47647195_47647196A>ATC	uc003gxm.3	-	13	1952_1953	c.1859_1860T>GAT	c.(1858-1860)gatfs	p.D620fs	CORIN_uc011bzf.2_Frame_Shift_Ins_p.D481fs|CORIN_uc011bzg.2_Frame_Shift_Ins_p.D553fs|CORIN_uc011bzh.1_Frame_Shift_Ins_p.D583fs	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	620	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTCCCAAAGATCTCTCTCTTT	0.371													TC	47647197	-	TC	47647196	7	5	279	1	0	1	1	0	0	0	0	0	3752	1435	50	0	1305	0	CORIN	4	47647196	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	47647196	143507080	245	143238	759	2									
SRD5A3	79644	broad.mit.edu	37	chr4	56236103	56236103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctacgtttccatggccGtcacctttgggttccacaac	8	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:56236103G>A	uc003hau.2	+	5	897	c.802G>A	c.(802-804)GTC>ATC	p.V268I	uc003hav.1_Intron|uc003haw.1_Intron	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	268	Helical; (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TTCCATGGCCGTCACCTTTGG	0.453													A	56236103	G	A	56236103	3	1	279	1	0	0	0	0	1	0	0	0	15139	1145	40	1	820	1	SRD5A3	4	56236103	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8588907	56236103	134918173	246	143239											
C4orf14	84273	broad.mit.edu	37	chr4	57843591	57843591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtgtccacggggtcaTaaggaagctcgcgtcccaga	12	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:57843591T>G	uc003hck.2	-	1	236	c.161A>C	c.(160-162)TAT>TCT	p.Y54S	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	54							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					CACGGGGTCATAAGGAAGCTC	0.652													G	57843591	T	G	57843591	3	3	279	1	0	0	0	0	1	0	0	0	2251	1406	49	5	1963	5	C4orf14	4	57843591	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1607488	57843591	133310685	247	143240											
EPHA5	2044	broad.mit.edu	37	chr4	66467928	66467928	+	Frame_Shift_Del	DEL	A	A	-													cattggagatccaactggtcAaaagccagttattctgattc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:66467927_66467927CA>C	uc003hcy.3	-	2	535	c.342_342TG>G	c.(340-342)ttgfs	p.L114fs	EPHA5_uc003hcx.3_Frame_Shift_Del_p.L45fs|EPHA5_uc003hcz.3_Frame_Shift_Del_p.L114fs|EPHA5_uc011cah.2_Frame_Shift_Del_p.L114fs|EPHA5_uc011cai.2_Frame_Shift_Del_p.L114fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.L114fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	114					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						TCCAACTGGTCAAAAGCCAGT	0.453										TSP Lung(17;0.13)			-	66467928	A	-	66467928	7	5	279	1	0	1	0	1	0	0	0	0	5170	131	5	0	2836	0	EPHA5	4	66467928	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	8624337	66467928	124686348	248	143241											
SLC4A4	8671	broad.mit.edu	37	chr4	72205146	72205146	+	Frame_Shift_Del	DEL	C	C	-													aggaggatgacagcccagctCcccctcagctcttcacggaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:72205145_72205145TC>T	uc010iic.3	+	3	429	c.312_312TC>T	c.(310-312)gctfs	p.A104fs	SLC4A4_uc003hfy.3_Frame_Shift_Del_p.A104fs|SLC4A4_uc010iib.3_Frame_Shift_Del_p.A104fs|SLC4A4_uc003hfz.3_Frame_Shift_Del_p.A104fs|SLC4A4_uc003hgc.4_Frame_Shift_Del_p.A60fs|SLC4A4_uc003hga.2_5'UTR|SLC4A4_uc003hgb.3_Frame_Shift_Del_p.A60fs	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	104						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)			ACAGCCCAGCTCCCCCTCAGC	0.537													-	72205146	C	-	72205146	7	5	279	1	0	1	0	1	0	0	0	0	14656	855	30	0	444	0	SLC4A4	4	72205146	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	5737218	72205146	118949130	249	143242											
AFM	173	broad.mit.edu	37	chr4	74367503	74367503	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgacatcttttggccacaGgtttcttgtcaacttagtga	8	8	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:74367503G>T	uc003hhb.2	+	13	1678	c.1647_splice	c.e13-1	p.R549_splice		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor						vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	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)			TTTGGCCACAGGTTTCTTGTC	0.383													T	74367503	G	T	74367503	5	4	279	1	0	0	0	0	0	0	1	0	361	1014	35	5	1696	5	AFM	4	74367503	Splice_Site	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2162357	74367503	116786773	250	143243											
CXCL10	3627	broad.mit.edu	37	chr4	76943854	76943854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcactcacatgatctcaaCacgtggacaaaattggcttg	7	10	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:76943854C>T	uc003hjl.3	-	2	248	c.178G>A	c.(178-180)GTT>ATT	p.V60I	ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	small inducible cytokine B10 precursor	60					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity				0			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGATCTCAACACGTGGACAA	0.333													T	76943854	C	T	76943854	3	4	279	1	0	0	0	0	1	0	0	0	4078	478	17	4	130	4	CXCL10	4	76943854	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2576351	76943854	114210422	251	143244											
HPSE	10855	broad.mit.edu	37	chr4	84234371	84234371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgctgttcttaataacGcatttaggccaaagatcaag	7	8	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:84234371G>A	uc003hoj.3	-	4	668	c.569C>T	c.(568-570)GCG>GTG	p.A190V	HPSE_uc010ika.2_Intron|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Intron|HPSE_uc011cct.1_Missense_Mutation_p.A190V|HPSE_uc003hok.3_Missense_Mutation_p.A190V	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	190					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TCTTAATAACGCATTTAGGCC	0.413													A	84234371	G	A	84234371	3	1	279	1	0	0	0	0	1	0	0	0	7344	1087	38	1	1098	1	HPSE	4	84234371	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	7290517	84234371	106919905	252	143245											
WDFY3	23001	broad.mit.edu	37	chr4	85708812	85708812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcatagaccgtgctcaCcactggtggatttgccgaac	12	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:85708812C>T	uc003hpd.2	-	23	4132	c.3724G>A	c.(3724-3726)GTG>ATG	p.V1242M		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1242						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCGTGCTCACCACTGGTGGA	0.488													T	85708812	C	T	85708812	3	4	279	1	0	0	0	0	1	0	0	0	17267	507	18	4	7040	4	WDFY3	4	85708812	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1474441	85708812	105445464	253	143246											
ABCG2	9429	broad.mit.edu	37	chr4	89034590	89034590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcttctcacccccGgaaagttgatgtaattcagc	6	12	5	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:89034590G>A	uc003hrg.2	-	9	1552	c.1059C>T	c.(1057-1059)TCC>TCT	p.S353S	ABCG2_uc003hrh.2_Silent_p.S353S|ABCG2_uc003hrf.2_Silent_p.S221S	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	353	Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		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)	TCTCACCCCCGGAAAGTTGAT	0.428													A	89034590	G	A	89034590	2	1	279	1	0	0	0	0	0	0	0	1	69	1103	39	1		1	ABCG2	4	89034590	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3325778	89034590	102119686	254	143247											
PPM1K	152926	broad.mit.edu	37	chr4	89199582	89199582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactcccactaccatctgGgtcaaaccgagaacacctag	8	14	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:89199582G>A	uc003hrm.3	-	2	544	c.154C>T	c.(154-156)CCA>TCA	p.P52S	PPM1K_uc010ikp.1_Missense_Mutation_p.P52S|PPM1K_uc003hrn.2_Missense_Mutation_p.P52S	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	protein phosphatase 1K (PP2C domain containing)	52					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CTACCATCTGGGTCAAACCGA	0.557													A	89199582	G	A	89199582	3	1	279	1	0	0	0	0	1	0	0	0	12343	1232	43	4	988	4	PPM1K	4	89199582	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	164992	89199582	101954694	255	143248											
HERC3	8916	broad.mit.edu	37	chr4	89628027	89628029	+	In_Frame_Del	DEL	CCT	CCT	-													acttgctacaaccttcttgaCctccccaagtacagcagcaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:89628026_89628028ACCT>A	uc003hrw.1	+	25	3234_3236	c.3068_3070ACCT>A	c.(3067-3072)gacctc>gAtc	p.L1024del	HERC3_uc011cdn.1_In_Frame_Del_p.L906del|HERC3_uc011cdo.1_In_Frame_Del_p.L468del|FAM13A-AS1_uc003hry.1_5'Flank	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	1024	HECT.				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)		AACCTTCTTGACCTCCCCAAGTA	0.557											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	89628029	CCT	-	89628027	7	5	279	1	0	1	0	1	0	0	0	0	7059	506	18	0	3163	0	HERC3	4	89628027	In_Frame_Del	DEL	CCT	TCGA-HU-A4H3-01A-21D-A25D-08	428445	89628027	101526249	256	143249											
MMRN1	22915	broad.mit.edu	37	chr4	90857091	90857091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctaaaagagactttaagtActattaaggataatagtgag	8	5	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:90857091A>G	uc003hst.2	+	6	2331	c.2260A>G	c.(2260-2262)ACT>GCT	p.T754A	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.T496A	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	754					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACTTTAAGTACTATTAAGGA	0.323													G	90857091	A	G	90857091	3	3	279	1	0	0	0	0	1	0	0	0	9670	391	14	3	2282	3	MMRN1	4	90857091	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1229064	90857091	100297185	257	143250											
GRID2	2895	broad.mit.edu	37	chr4	94376916	94376916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagtgggggtactacttcGaagggctgaaaagacagtgg	15	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:94376916G>A	uc011cdt.1	+	11	1907	c.1649G>A	c.(1648-1650)CGA>CAA	p.R550Q	GRID2_uc011cdu.1_Missense_Mutation_p.R455Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	550	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	GTACTACTTCGAAGGGCTGAA	0.483													A	94376916	G	A	94376916	3	1	279	1	0	0	0	0	1	0	0	0	6772	1058	37	1	1691	1	GRID2	4	94376916	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3519825	94376916	96777360	258	143251											
BMPR1B	658	broad.mit.edu	37	chr4	96052573	96052573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcaaaccagcaattgCccatcgagatctgaaaagta	8	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:96052573C>T	uc003htm.3	+	10	1260	c.986C>T	c.(985-987)GCC>GTC	p.A329V	BMPR1B_uc010ilb.2_Missense_Mutation_p.A329V|BMPR1B_uc003htn.3_Missense_Mutation_p.A329V	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	329	Cytoplasmic (Potential).|Protein kinase.				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			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCAGCAATTGCCCATCGAGAT	0.393													T	96052573	C	T	96052573	3	4	279	1	0	0	0	0	1	0	0	0	1470	739	26	2	1012	2	BMPR1B	4	96052573	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1675657	96052573	95101703	259	143252											
METAP1	23173	broad.mit.edu	37	chr4	99960602	99960602	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatatagaagggatgCgacttgtatgtagggtaaga	14	3	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:99960602C>T	uc003huf.3	+	5	535	c.418C>T	c.(418-420)CGA>TGA	p.R140*	METAP1_uc003hug.2_RNA	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	140					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AGAAGGGATGCGACTTGTATG	0.363													T	99960602	C	T	99960602	4	4	279	1	0	0	0	0	0	1	0	0	9486	760	27	1	436	1	METAP1	4	99960602	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3908029	99960602	91193674	260	143253											
SLC39A8	64116	broad.mit.edu	37	chr4	103188834	103188836	+	Splice_Site	DEL	AGA	AGA	-													gtaggatcacaaagtctcctAgaagaagaagaagaaaatat					rs144310869	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:103188833_103188835TAGA>T	uc003hwb.1	-	7	1578	c.1049_splice	c.e7-1	p.G350_splice	SLC39A8_uc011ceo.1_Splice_Site_p.G350_splice|SLC39A8_uc003hwa.1_Splice_Site_p.G283_splice|SLC39A8_uc003hwc.2_Splice_Site_p.G350_splice	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	350						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)		CAAAGTCTCCTAGAAGAAGAAGA	0.369													-	103188836	AGA	-	103188834	8	5	279	1	0	1	0	1	0	0	1	0	14624	435	15	0		0	SLC39A8	4	103188834	Splice_Site	DEL	AGA	TCGA-HU-A4H3-01A-21D-A25D-08	3228232	103188834	87965442	261	143254											
CENPE	1062	broad.mit.edu	37	chr4	104065724	104065724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattttctcctgagtctcatTgacagctgtcatcttaagaa	6	10	4	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:104065724T>C	uc003hxb.1	-	33	4999	c.4909A>G	c.(4909-4911)AAT>GAT	p.N1637D	CENPE_uc003hxc.1_Missense_Mutation_p.N1612D	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1637	Potential.				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			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGAGTCTCATTGACAGCTGTC	0.328													C	104065724	T	C	104065724	3	2	279	1	0	0	0	0	1	0	0	0	3230	1812	63	3	3264	3	CENPE	4	104065724	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	876890	104065724	87088552	262	143255											
SEC24B	10427	broad.mit.edu	37	chr4	110384496	110384496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaactgtttctaatgcCgcgtatcctagtgtttcata	7	9	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:110384496C>T	uc003hzk.2	+	2	628	c.573C>T	c.(571-573)GCC>GCT	p.A191A	SEC24B_uc003hzl.2_Silent_p.A191A|SEC24B_uc011cfp.1_Silent_p.A222A|SEC24B_uc011cfq.1_Silent_p.A191A|SEC24B_uc011cfr.1_Silent_p.A191A	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	191					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			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTCTAATGCCGCGTATCCTA	0.453													T	110384496	C	T	110384496	2	4	279	1	0	0	0	0	0	0	0	1	13995	639	23	1		1	SEC24B	4	110384496	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6318772	110384496	80769780	263	143256											
CFI	3426	broad.mit.edu	37	chr4	110687927	110687927	+	Frame_Shift_Del	DEL	T	T	-													tcgcaggagaggtgagtataTttttttgctaagcacttttt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:110687927delT	uc003hzr.3	-	2	319	c.111delA	c.(109-111)AAAfs	p.K37fs	CFI_uc011cft.1_Frame_Shift_Del_p.K37fs|CFI_uc003hzs.3_Frame_Shift_Del_p.K37fs	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	37					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GGTGAGTATATTTTTTTGCTA	0.398													-	110687927	T	-	110687927	7	5	279	1	0	1	0	1	0	0	0	0	3289	1490	52	0	1688	0	CFI	4	110687927	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	303431	110687927	80466349	264	143257											
PRDM5	11107	broad.mit.edu	37	chr4	121738028	121738028	+	Frame_Shift_Del	DEL	A	A	-													gaattgcaaacagagcactgAaaacttcgcgaagactcctt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:121738028delA	uc003idn.2	-	6	952	c.702delT	c.(700-702)TTTfs	p.F234fs	PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	234	C2H2-type 3; atypical.				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)|pancreas(1)	2						CAGAGCACTGAAAACTTCGCG	0.383													-	121738028	A	-	121738028	7	5	279	1	0	1	0	1	0	0	0	0	12460	243	9	0	1234	0	PRDM5	4	121738028	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	11050101	121738028	69416248	265	143258											
FAT4	79633	broad.mit.edu	37	chr4	126370871	126370871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgcaacagatcctgaTgagggatcaaatggacaagt	11	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:126370871T>C	uc003ifj.3	+	9	8700	c.8700T>C	c.(8698-8700)GAT>GAC	p.D2900D	FAT4_uc011cgp.1_Silent_p.D1198D|FAT4_uc003ifi.1_Silent_p.D378D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2900	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGATCCTGATGAGGGATCAA	0.358													C	126370871	T	C	126370871	2	2	279	1	0	0	0	0	0	0	0	1	5692	1461	51	3		3	FAT4	4	126370871	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	4632843	126370871	64783405	266	143259											
C4orf49	84709	broad.mit.edu	37	chr4	140188117	140188117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggactttcttcagcatctAccacctcagcttccactata	5	14	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:140188117A>G	uc003ihr.1	-	4	539	c.359T>C	c.(358-360)GTA>GCA	p.V120A		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	ovary-specific acidic protein	120						integral to membrane				central_nervous_system(1)|skin(1)	2						TTCAGCATCTACCACCTCAGC	0.478													G	140188117	A	G	140188117	3	3	279	1	0	0	0	0	1	0	0	0	2275	391	14	3	367	3	C4orf49	4	140188117	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	13817246	140188117	50966159	267	143260											
SH3D19	152503	broad.mit.edu	37	chr4	152069209	152069209	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgaagatccatgtcAgaagaggatcgattaaaagg	10	5	2	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:152069209A>T	uc010ipl.1	-	11	2197	c.1107T>A	c.(1105-1107)TCT>TCA	p.S369S	SH3D19_uc003imb.2_Silent_p.S147S|SH3D19_uc003imc.2_Silent_p.S333S|SH3D19_uc003ime.2_Silent_p.S369S|SH3D19_uc010ipm.2_Silent_p.S369S	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	SH3 domain containing 19 isoform a	369					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			ovary(1)|skin(1)	2	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GATCCATGTCAGAAGAGGATC	0.453													T	152069209	A	T	152069209	2	4	279	1	0	0	0	0	0	0	0	1	14249	175	7	5		5	SH3D19	4	152069209	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	11881092	152069209	39085067	268	143261											
PLRG1	5356	broad.mit.edu	37	chr4	155468219	155468219	+	Splice_Site	DEL	A	A	-													agtattcaacttcttgtcctAaaaaaacacaaaaaaaatca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:155468218_155468218TA>T	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACAC	0.308													-	155468219	A	-	155468219	8	5	279	1	0	1	0	1	0	0	1	0	12106	377	13	0		0	PLRG1	4	155468219	Splice_Site	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	3399010	155468219	35686057	269	143262											
FSTL5	56884	broad.mit.edu	37	chr4	162307519	162307519	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgcacttatagtccttcaAgttaattgtcttgatgtatg	7	7	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:162307519A>G	uc003iqh.2	-	16	2360	c.1924T>C	c.(1924-1926)TTG>CTG	p.L642L	FSTL5_uc003iqi.2_Silent_p.L641L|FSTL5_uc010iqv.2_Silent_p.L632L|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	642						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGTCCTTCAAGTTAATTGTC	0.393													G	162307519	A	G	162307519	2	3	279	1	0	0	0	0	0	0	0	1	6080	69	3	3		3	FSTL5	4	162307519	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	6839300	162307519	28846757	270	143263											
TRIM61	391712	broad.mit.edu	37	chr4	165891048	165891048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataatgatgcaggagagaCagaagttatgcccacagctg	11	8	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:165891048C>T	uc003iqw.2	-	3	718	c.107G>A	c.(106-108)TGT>TAT	p.C36Y		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	tripartite motif-containing 61	36	RING-type.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		GCAGGAGAGACAGAAGTTATG	0.493													T	165891048	C	T	165891048	3	4	279	1	0	0	0	0	1	0	0	0	16533	478	17	4	530	4	TRIM61	4	165891048	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3583529	165891048	25263228	271	143264											
KLHL2	11275	broad.mit.edu	37	chr4	166238988	166238988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaggagtttgtgcAgttaatggtctgttatatgt	10	2	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:166238988A>G	uc003irb.2	+	14	1879	c.1620A>G	c.(1618-1620)GCA>GCG	p.A540A	KLHL2_uc011cjm.1_Silent_p.A544A|KLHL2_uc003irc.2_Silent_p.A452A|KLHL2_uc010ira.2_Silent_p.A193A	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	540	Kelch 5.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	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)		GAGTTTGTGCAGTTAATGGTC	0.348													G	166238988	A	G	166238988	2	3	279	1	0	0	0	0	0	0	0	1	8374	175	7	3		3	KLHL2	4	166238988	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	347940	166238988	24915288	272	143265											
KIAA1430	57587	broad.mit.edu	37	chr4	186112044	186112044	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttgtaacatcacacaAtttttttgatcttgaagagg	7	7	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:186112044A>T	uc003ixf.3	-	2	454	c.307T>A	c.(307-309)TTG>ATG	p.L103M	KIAA1430_uc003ixg.2_Missense_Mutation_p.L103M	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	103											0		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)		ACATCACACAATTTTTTTGAT	0.368													T	186112044	A	T	186112044	3	4	279	1	0	0	0	0	1	0	0	0	8232	98	4	5	1307	5	KIAA1430	4	186112044	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	19873056	186112044	5042232	273	143266											
MTNR1A	4543	broad.mit.edu	37	chr4	187454886	187454886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattattgttggtcatcagtGgagacggtttccatttaacc	9	8	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:187454886G>T	uc003izd.1	-	2	1028	c.1010C>A	c.(1009-1011)CCA>CAA	p.P337Q		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	337	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		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)	GGTCATCAGTGGAGACGGTTT	0.493													T	187454886	G	T	187454886	3	4	279	1	0	0	0	0	1	0	0	0	9951	1348	47	5	46	5	MTNR1A	4	187454886	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1342842	187454886	3699390	274	143267											
FAT1	2195	broad.mit.edu	37	chr4	187534385	187534385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgttcacatcttctagcGtgagcacaatactggcttgg	9	10	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr4:187534385G>A	uc003izf.2	-	13	9529	c.9341C>T	c.(9340-9342)ACG>ATG	p.T3114M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3114	Extracellular (Potential).|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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATCTTCTAGCGTGAGCACAAT	0.522										HNSCC(5;0.00058)			A	187534385	G	A	187534385	3	1	279	1	0	0	0	0	1	0	0	0	5689	1145	40	1	4485	1	FAT1	4	187534385	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	79499	187534385	3619891	275	143268											
TERT	7015	broad.mit.edu	37	chr5	1255409	1255409	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacctgcacatacctgcgttCttggctttcaggatggagta	10	11	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:1255409C>A	uc003jcb.1	-	14	3208	c.3150G>T	c.(3148-3150)AAG>AAT	p.K1050N	TERT_uc003jbz.1_Missense_Mutation_p.K246N|TERT_uc003jca.1_Missense_Mutation_p.K1038N|TERT_uc003jcc.1_Missense_Mutation_p.K987N|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	1050	CTE.				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			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	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)			TACCTGCGTTCTTGGCTTTCA	0.542									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				A	1255409	C	A	1255409	3	1	279	1	0	0	0	0	1	0	0	0	15761	912	32	5	260	5	TERT	5	1255409	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08		1255409	179659851	276	143269											
SLC6A3	6531	broad.mit.edu	37	chr5	1422074	1422074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgtgagctgccaccGcggaggccccaggtcgtcga	16	14	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:1422074G>A	uc003jck.2	-	5	830	c.709C>T	c.(709-711)CGG>TGG	p.R237W		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	237	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			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)	AGCTGCCACCGCGGAGGCCCC	0.657													A	1422074	G	A	1422074	3	1	279	1	0	0	0	0	1	0	0	0	14685	1086	38	1	1197	1	SLC6A3	5	1422074	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	166665	1422074	179493186	277	143270											
KIAA0947	23379	broad.mit.edu	37	chr5	5466528	5466528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccacaattacattcacGccctctgcagggtgtatgtg	10	11	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:5466528G>A	uc003jdm.3	+	14	6196	c.5974G>A	c.(5974-5976)GCC>ACC	p.A1992T		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1992										ovary(1)|central_nervous_system(1)	2						TTACATTCACGCCCTCTGCAG	0.398													A	5466528	G	A	5466528	3	1	279	1	0	0	0	0	1	0	0	0	8202	1087	38	1	6028	1	KIAA0947	5	5466528	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4044454	5466528	175448732	278	143271											
DNAH5	1767	broad.mit.edu	37	chr5	13919426	13919426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcgtggcccaacgtcatcCgcttccttcagcagctgatt	9	15	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:13919426C>T	uc003jfd.2	-	7	876	c.834G>A	c.(832-834)GCG>GCA	p.A278A	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	278	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CAACGTCATCCGCTTCCTTCA	0.493									Kartagener_syndrome				T	13919426	C	T	13919426	2	4	279	1	0	0	0	0	0	0	0	1	4604	639	23	1		1	DNAH5	5	13919426	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8452898	13919426	166995834	279	143272											
FBXL7	23194	broad.mit.edu	37	chr5	15928475	15928475	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggcggctcacagacCgagggctgtacaccatcgcc	13	15	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:15928475C>T	uc003jfn.1	+	3	1085	c.604C>T	c.(604-606)CGA>TGA	p.R202*		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	202	LRR 2.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GCTCACAGACCGAGGGCTGTA	0.597													T	15928475	C	T	15928475	4	4	279	1	0	0	0	0	0	1	0	0	5724	644	23	1	614	1	FBXL7	5	15928475	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2009049	15928475	164986785	280	143273											
MYO10	4651	broad.mit.edu	37	chr5	16694606	16694607	+	Frame_Shift_Ins	INS	-	-	C													cctggacagcgtggaggagcINScccccccttttttgtggagc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:16694605_16694606G>GC	uc003jft.4	-	26	4142_4143	c.3674_3675C>GC	c.(3673-3675)ggcfs	p.G1225fs	MYO10_uc011cnc.2_Frame_Shift_Ins_p.G104fs|MYO10_uc011cnd.2_Frame_Shift_Ins_p.G582fs|MYO10_uc011cne.2_Frame_Shift_Ins_p.G582fs|MYO10_uc010itx.3_Frame_Shift_Ins_p.G848fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1225	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.S1226fs*25(1)		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						GCGTGGAGGAGCCCCCCCCTTT	0.564													C	16694607	-	C	16694606	7	5	279	1	0	1	1	0	0	0	0	0	10062	739	26	0	2562	0	MYO10	5	16694606	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	766131	16694606	164220654	281	143274											
RNASEN	29102	broad.mit.edu	37	chr5	31407020	31407020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacagccacagtgtaggttCgggcatgggatgggcccact	14	10	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:31407020C>T	uc003jhg.2	-	33	4246	c.3887G>A	c.(3886-3888)CGA>CAA	p.R1296Q	RNASEN_uc003jhh.2_Missense_Mutation_p.R1259Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1296	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|DRBM.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AGTGTAGGTTCGGGCATGGGA	0.418													T	31407020	C	T	31407020	3	4	279	1	0	0	0	0	1	0	0	0	13417	884	31	1	249	1	RNASEN	5	31407020	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	14712414	31407020	149508240	282	143275											
RNASEN	29102	broad.mit.edu	37	chr5	31526886	31526886	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcacttggaggttcatattGatattgcacaggaggctgct	13	7	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:31526886G>A	uc003jhg.2	-	4	513	c.154C>T	c.(154-156)CAA>TAA	p.Q52*	RNASEN_uc003jhh.2_Nonsense_Mutation_p.Q52*|RNASEN_uc003jhi.2_Nonsense_Mutation_p.Q52*|RNASEN_uc010iui.1_Nonsense_Mutation_p.Q43*	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	52	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						GGTTCATATTGATATTGCACA	0.557													A	31526886	G	A	31526886	4	1	279	1	0	0	0	0	0	1	0	0	13417	1299	45	4	4098	4	RNASEN	5	31526886	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	119866	31526886	149388374	283	143276											
NIPBL	25836	broad.mit.edu	37	chr5	37064899	37064899	+	Frame_Shift_Del	DEL	A	A	-													aagagtcagacattatttacAaaaaaattgctctaacgagt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:37064898_37064898CA>C	uc003jkl.4	+	46	8818	c.8319_8319CA>C	c.(8317-8319)tacfs	p.Y2773fs	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2773					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)			ACATTATTTACAAAAAAATTG	0.463													-	37064899	A	-	37064899	7	5	279	1	0	1	0	1	0	0	0	0	10428	131	5	0	8547	0	NIPBL	5	37064899	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	5538013	37064899	143850361	284	143277											
C5orf42	65250	broad.mit.edu	37	chr5	37164384	37164384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatacataccaaaaggaaCgtcgaagtcatccaaaggat	7	10	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:37164384C>T	uc011cpa.1	-	37	7810	c.7579G>A	c.(7579-7581)GTT>ATT	p.V2527I	C5orf42_uc011coy.1_Missense_Mutation_p.V1027I|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.V1602I	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2527										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAAAAGGAACGTCGAAGTCA	0.308													T	37164384	C	T	37164384	3	4	279	1	0	0	0	0	1	0	0	0	2301	536	19	1	2078	1	C5orf42	5	37164384	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	99485	37164384	143750876	285	143278											
FYB	2533	broad.mit.edu	37	chr5	39202605	39202605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagtaggcccagatttcGggcctagtggctttaagtca	14	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:39202605G>A	uc003jls.2	-	1	525	c.458C>T	c.(457-459)CCG>CTG	p.P153L	FYB_uc003jlt.2_Missense_Mutation_p.P153L|FYB_uc003jlu.2_Missense_Mutation_p.P153L|FYB_uc011cpl.1_Missense_Mutation_p.P163L	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	153					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCAGATTTCGGGCCTAGTGG	0.453													A	39202605	G	A	39202605	3	1	279	1	0	0	0	0	1	0	0	0	6124	1116	39	1	2103	1	FYB	5	39202605	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2038221	39202605	141712655	286	143279											
FGF10	2255	broad.mit.edu	37	chr5	44388550	44388550	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagaatagctttctccAgcggacatctccttgaaggt	10	9	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:44388550A>C	uc003jog.1	-	1	235	c.235T>G	c.(235-237)TGG>GGG	p.W79G		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	79					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					AGCTTTCTCCAGCGGACATCT	0.517													C	44388550	A	C	44388550	3	2	279	1	0	0	0	0	1	0	0	0	5839	188	7	5	403	5	FGF10	5	44388550	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	5185945	44388550	136526710	287	143280											
PLK2	10769	broad.mit.edu	37	chr5	57753096	57753096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactagcaattaagtgcttgGcaggagccagcaatgaggac	12	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:57753096G>A	uc003jrn.2	-	7	1047	c.920C>T	c.(919-921)GCC>GTC	p.A307V		NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	307	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		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)		TAAGTGCTTGGCAGGAGCCAG	0.438													A	57753096	G	A	57753096	3	1	279	1	0	0	0	0	1	0	0	0	12096	1203	42	2	1169	2	PLK2	5	57753096	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	13364546	57753096	123162164	288	143281											
ADAMTS6	11174	broad.mit.edu	37	chr5	64466574	64466574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcacagttctcatctgCtgtccaaggccacactgagc	8	15	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:64466574C>T	uc003jtp.2	-	24	3928	c.3114G>A	c.(3112-3114)CAG>CAA	p.Q1038Q	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1038	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTCTCATCTGCTGTCCAAGGC	0.413													T	64466574	C	T	64466574	2	4	279	1	0	0	0	0	0	0	0	1	270	796	28	2		2	ADAMTS6	5	64466574	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6713478	64466574	116448686	289	143282											
ADAMTS6	11174	broad.mit.edu	37	chr5	64766684	64766685	+	Frame_Shift_Ins	INS	-	-	A													tgtgtaatgacagttgtctaINSaaaaatcatgtttccactgg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:64766683_64766684T>TA	uc003jtp.3	-	2	1197_1198	c.383_384A>TA	c.(382-384)ttafs	p.L128fs	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	128					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GACAGTTGTCTAAAAAATCATG	0.361													A	64766685	-	A	64766684	7	5	279	1	0	1	1	0	0	0	0	0	270	372	13	0	3062	0	ADAMTS6	5	64766684	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	300110	64766684	116148576	290	143283											
BDP1	55814	broad.mit.edu	37	chr5	70812075	70812075	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgatattaccaaaagatgaaActgaaaagaaagtcttaact	6	6	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:70812075A>T	uc003kbp.1	+	21	5100	c.4837A>T	c.(4837-4839)ACT>TCT	p.T1613S	BDP1_uc003kbo.2_Missense_Mutation_p.T1613S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1613					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		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)		AAAAGATGAAACTGAAAAGAA	0.328													T	70812075	A	T	70812075	3	4	279	1	0	0	0	0	1	0	0	0	1395	43	2	5	4919	5	BDP1	5	70812075	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	6045391	70812075	110103185	291	143284											
PTCD2	79810	broad.mit.edu	37	chr5	71638851	71638851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccagaaagcatagcctgCattaatttaaatgtaagtga	7	6	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:71638851C>T	uc003kcb.2	+	8	826	c.816C>T	c.(814-816)TGC>TGT	p.C272C	PTCD2_uc011csf.1_Silent_p.C82C|PTCD2_uc003kcc.2_Silent_p.C120C|PTCD2_uc011csg.1_Silent_p.C100C|PTCD2_uc011csh.1_Silent_p.C163C|PTCD2_uc003kcd.2_RNA	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	272											0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCATAGCCTGCATTAATTTAA	0.269													T	71638851	C	T	71638851	2	4	279	1	0	0	0	0	0	0	0	1	12728	718	25	2		2	PTCD2	5	71638851	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	826776	71638851	109276409	292	143285											
PAPD4	167153	broad.mit.edu	37	chr5	78964728	78964728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacaggagtcttttagtcCtgctatacagctgcaccttg	9	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:78964728C>T	uc010jae.1	+	13	1503	c.1085C>T	c.(1084-1086)CCT>CTT	p.P362L	PAPD4_uc003kgb.2_Missense_Mutation_p.P362L|PAPD4_uc010jaf.1_Missense_Mutation_p.P362L|PAPD4_uc003kga.2_Missense_Mutation_p.P358L|PAPD4_uc003kfz.2_Missense_Mutation_p.P319L	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	362					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCTTTTAGTCCTGCTATACAG	0.393													T	78964728	C	T	78964728	3	4	279	1	0	0	0	0	1	0	0	0	11424	681	24	4	1127	4	PAPD4	5	78964728	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7325877	78964728	101950532	293	143286											
CMYA5	202333	broad.mit.edu	37	chr5	79031946	79031946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactcaggtctgttagtcCaactgagaagaaagataatt	8	6	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:79031946C>T	uc003kgc.2	+	2	7430	c.7358C>T	c.(7357-7359)CCA>CTA	p.P2453L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2453						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		TCTGTTAGTCCAACTGAGAAG	0.368													T	79031946	C	T	79031946	3	4	279	1	0	0	0	0	1	0	0	0	3590	594	21	4	7364	4	CMYA5	5	79031946	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	67218	79031946	101883314	294	143287											
FAM151B	167555	broad.mit.edu	37	chr5	79815642	79815642	+	Frame_Shift_Del	DEL	T	T	-													aagtaatagatgcaaaaccaTttttagacaccgtgatatcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:79815642delT	uc003kgv.1	+	4	591	c.448delT	c.(448-450)TTTfs	p.F150fs	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	150											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGCAAAACCATTTTTAGACAC	0.408													-	79815642	T	-	79815642	7	5	279	1	0	1	0	1	0	0	0	0	5459	1493	52	0	462	0	FAM151B	5	79815642	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	783696	79815642	101099618	295	143288											
LYSMD3	116068	broad.mit.edu	37	chr5	89814637	89814638	+	Frame_Shift_Del	DEL	TA	TA	-													tttgattatgagctaattgcTatgtttcctgttgagcagca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:89814637_89814638delTA	uc003kjr.2	-	3	1067_1068	c.919_920delTA	c.(919-921)TAGfs	p.*307fs	LYSMD3_uc010jaz.1_Frame_Shift_Del_p.H148fs|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	307					cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AGCTAATTGCTATGTTTCCTGT	0.366													-	89814638	TA	-	89814637	7	5	279	1	0	1	0	1	0	0	0	0	9126	1535	53	0	4	0	LYSMD3	5	89814637	Frame_Shift_Del	DEL	TA	TCGA-HU-A4H3-01A-21D-A25D-08	9998995	89814637	91100623	296	143289											
GPR98	84059	broad.mit.edu	37	chr5	89949385	89949385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgctttgtactttaccGgactagagggtgcatttggg	14	7	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:89949385G>A	uc003kju.2	+	20	4090	c.3994G>A	c.(3994-3996)GGA>AGA	p.G1332R	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1332	Extracellular (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		GTACTTTACCGGACTAGAGGG	0.443													A	89949385	G	A	89949385	3	1	279	1	0	0	0	0	1	0	0	0	6721	1117	39	1	4072	1	GPR98	5	89949385	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	134748	89949385	90965875	297	143290											
WDR36	134430	broad.mit.edu	37	chr5	110446959	110446959	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagagttttctggacaccaAggccaaataaatgacatggt	10	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:110446959A>C	uc003kpd.2	+	15	1983	c.1866A>C	c.(1864-1866)CAA>CAC	p.Q622H	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	622	WD 8.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		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)		CTGGACACCAAGGCCAAATAA	0.373													C	110446959	A	C	110446959	3	2	279	1	0	0	0	0	1	0	0	0	17287	69	3	5	1924	5	WDR36	5	110446959	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	20497574	110446959	70468301	298	143291											
APC	324	broad.mit.edu	37	chr5	112176209	112176209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgggggatgatatgccaCgggtgtattgtgttgaaggg	17	6	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:112176209C>T	uc010jby.2	+	16	5298	c.4918C>T	c.(4918-4920)CGG>TGG	p.R1640W	APC_uc011cvt.1_Missense_Mutation_p.R1622W|APC_uc003kpz.3_Missense_Mutation_p.R1640W|APC_uc003kpy.3_Missense_Mutation_p.R1640W|APC_uc010jbz.2_Missense_Mutation_p.R1357W|APC_uc010jca.2_Missense_Mutation_p.R940W	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1640	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.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		TGATATGCCACGGGTGTATTG	0.443		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			T	112176209	C	T	112176209	3	4	279	1	0	0	0	0	1	0	0	0	763	527	19	1	4976	1	APC	5	112176209	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1729250	112176209	68739051	299	143292											
SEMA6A	57556	broad.mit.edu	37	chr5	115782634	115782634	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcttctcgtgagcgagTtcgtggggtagctcctctta	15	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:115782634T>A	uc010jck.2	-	19	3477	c.2768A>T	c.(2767-2769)AAC>ATC	p.N923I	SEMA6A_uc003krx.3_Missense_Mutation_p.N940I|SEMA6A_uc011cwe.1_Missense_Mutation_p.N302I|SEMA6A_uc003krv.3_Missense_Mutation_p.N350I|SEMA6A_uc003krw.3_Missense_Mutation_p.N400I|SEMA6A_uc010jcj.2_Missense_Mutation_p.N467I	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	923	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		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)		CGTGAGCGAGTTCGTGGGGTA	0.562													A	115782634	T	A	115782634	3	1	279	1	0	0	0	0	1	0	0	0	14039	1725	60	5	328	5	SEMA6A	5	115782634	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3606425	115782634	65132626	300	143293											
ALDH7A1	501	broad.mit.edu	37	chr5	125912806	125912806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagatcatggcgatggcGttgttccaaccatacactgc	9	13	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:125912806G>A	uc003ktx.2	-	6	807	c.615C>T	c.(613-615)AAC>AAT	p.N205N	ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.N232N|ALDH7A1_uc003ktz.2_Silent_p.N232N	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	205					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TGGCGATGGCGTTGTTCCAAC	0.448													A	125912806	G	A	125912806	2	1	279	1	0	0	0	0	0	0	0	1	504	1136	40	1		1	ALDH7A1	5	125912806	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10130172	125912806	55002454	301	143294											
ISOC1	51015	broad.mit.edu	37	chr5	128440935	128440935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacagaacaataccctaaaGgtcttgggagcacggttcaa	9	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:128440935G>T	uc003kva.2	+	3	505	c.487G>T	c.(487-489)GGT>TGT	p.G163C		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	163						peroxisome	catalytic activity				0		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)		ATACCCTAAAGGTCTTGGGAG	0.368													T	128440935	G	T	128440935	3	4	279	1	0	0	0	0	1	0	0	0	7862	1000	35	5	497	5	ISOC1	5	128440935	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2528129	128440935	52474325	302	143295											
CHSY3	337876	broad.mit.edu	37	chr5	129521238	129521238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatttgatacctcaatacaAggctggggactagaagatgt	12	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:129521238A>G	uc003kvd.2	+	3	2403	c.2403A>G	c.(2401-2403)CAA>CAG	p.Q801Q		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	801	Lumenal (Potential).					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			ovary(2)|pancreas(1)	3		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)		CCTCAATACAAGGCTGGGGAC	0.403													G	129521238	A	G	129521238	2	3	279	1	0	0	0	0	0	0	0	1	3413	69	3	3		3	CHSY3	5	129521238	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1080303	129521238	51394022	303	143296											
RAPGEF6	51735	broad.mit.edu	37	chr5	130799880	130799880	+	Frame_Shift_Del	DEL	A	A	-													ccaaattcatgaacagcatgAaaaactacttctttagctgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:130799880delA	uc003kvn.1	-	18	2540	c.2334delT	c.(2332-2334)TTTfs	p.F778fs	RAPGEF6_uc003kvp.1_Frame_Shift_Del_p.F828fs|RAPGEF6_uc003kvo.1_Frame_Shift_Del_p.F783fs|RAPGEF6_uc010jdi.1_Frame_Shift_Del_p.F778fs|RAPGEF6_uc010jdj.1_Frame_Shift_Del_p.F778fs|RAPGEF6_uc003kvq.2_Frame_Shift_Del_p.F495fs|RAPGEF6_uc003kvr.2_Frame_Shift_Del_p.F778fs|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Frame_Shift_Del_p.F778fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	778	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GAACAGCATGAAAAACTACTT	0.383													-	130799880	A	-	130799880	7	5	279	1	0	1	0	1	0	0	0	0	13048	243	9	0	2982	0	RAPGEF6	5	130799880	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	1278642	130799880	50115380	304	143297											
RAPGEF6	51735	broad.mit.edu	37	chr5	130828390	130828390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaattgtagaggggacTcgcgggaagccttttgcagc	16	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:130828390T>C	uc003kvn.1	-	14	1822	c.1616A>G	c.(1615-1617)GAG>GGG	p.E539G	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E589G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E539G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E539G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E539G|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E256G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E539G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E539G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	539	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TAGAGGGGACTCGCGGGAAGC	0.468													C	130828390	T	C	130828390	3	2	279	1	0	0	0	0	1	0	0	0	13048	1551	54	3	3735	3	RAPGEF6	5	130828390	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	28510	130828390	50086870	305	143298											
RAPGEF6	51735	broad.mit.edu	37	chr5	130828445	130828445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagcctttgcagcacaggCaatattcaataaccggagat	8	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:130828445C>T	uc003kvn.1	-	14	1767	c.1561G>A	c.(1561-1563)GCC>ACC	p.A521T	RAPGEF6_uc003kvp.1_Missense_Mutation_p.A571T|RAPGEF6_uc003kvo.1_Missense_Mutation_p.A521T|RAPGEF6_uc010jdi.1_Missense_Mutation_p.A521T|RAPGEF6_uc010jdj.1_Missense_Mutation_p.A521T|RAPGEF6_uc003kvq.2_Missense_Mutation_p.A238T|RAPGEF6_uc003kvr.2_Missense_Mutation_p.A521T|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.A521T	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	521	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAGCACAGGCAATATTCAAT	0.413													T	130828445	C	T	130828445	3	4	279	1	0	0	0	0	1	0	0	0	13048	710	25	2	3790	2	RAPGEF6	5	130828445	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	55	130828445	50086815	306	143299											
SLC22A5	6584	broad.mit.edu	37	chr5	131722731	131722731	+	Frame_Shift_Del	DEL	C	C	-													tgccaggttcatccctgagtCcccccgatggctcatctctc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:131722731delC	uc003kww.3	+	5	1103	c.839delC	c.(838-840)TCCfs	p.S280fs	SLC22A5_uc003kwx.3_Frame_Shift_Del_p.S304fs|SLC22A5_uc010jdr.1_5'UTR	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	280	Cytoplasmic (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCCTGAGTCCCCCCGATGG	0.547											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	131722731	C	-	131722731	7	5	279	1	0	1	0	1	0	0	0	0	14457	855	30	0	857	0	SLC22A5	5	131722731	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	894286	131722731	49192529	307	143300											
TCF7	6932	broad.mit.edu	37	chr5	133479285	133479287	+	In_Frame_Del	DEL	GAA	GAA	-													tccttttgttccctgcagggGaagaagaagaggcggtcgag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:133479284_133479286GGAA>G	uc003kyt.3	+	8	1224_1226	c.1028_1030GGAA>G	c.(1027-1032)gggaag>gGag	p.K346del	TCF7_uc003kyv.3_In_Frame_Del_p.K231del|TCF7_uc003kyw.3_In_Frame_Del_p.K231del|TCF7_uc003kyu.2_In_Frame_Del_p.K231del|TCF7_uc003kyy.3_In_Frame_Del_p.K231del|TCF7_uc003kyx.3_In_Frame_Del_p.K144del|TCF7_uc003kyz.3_In_Frame_Del_p.K231del|TCF7_uc003kza.3_In_Frame_Del_p.K231del|TCF7_uc003kzb.3_In_Frame_Del_p.K160del|TCF7_uc010jdu.3_Non-coding_Transcript	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	346					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	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)			TCCCTGCAGGGGAAGAAGAAGAG	0.562													-	133479287	GAA	-	133479285	7	5	279	1	0	1	0	1	0	0	0	0	15693	1161	41	0	1063	0	TCF7	5	133479285	In_Frame_Del	DEL	GAA	TCGA-HU-A4H3-01A-21D-A25D-08	1756554	133479285	47435975	308	143301											
REEP2	51308	broad.mit.edu	37	chr5	137780982	137780982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctgaccctgatccgggaCgaggacgcactgcccctgca	12	16	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:137780982C>T	uc003lcz.2	+	6	599	c.477C>T	c.(475-477)GAC>GAT	p.D159D	REEP2_uc003lda.2_Silent_p.D161D|REEP2_uc011cyt.1_Silent_p.D120D	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	159						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGATCCGGGACGAGGACGCAC	0.697													T	137780982	C	T	137780982	2	4	279	1	0	0	0	0	0	0	0	1	13205	535	19	1		1	REEP2	5	137780982	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4301697	137780982	43134278	309	143302											
EGR1	1958	broad.mit.edu	37	chr5	137803521	137803521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacctcttatccatccccGgccaccacctcatacccatc	2	21	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:137803521G>A	uc003ldb.1	+	2	1653	c.1383G>A	c.(1381-1383)CCG>CCA	p.P461P	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	461					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			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			atccatccccggccaccacct	0.154													A	137803521	G	A	137803521	2	1	279	1	0	0	0	0	0	0	0	1	4971	1103	39	1		1	EGR1	5	137803521	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	22539	137803521	43111739	310	143303											
CTNNA1	1495	broad.mit.edu	37	chr5	138269735	138269735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaagaagcacgtgaaccCggtgcaggccctcagcgagt	13	12	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:138269735C>T	uc003ldh.2	+	18	2773	c.2678C>T	c.(2677-2679)CCG>CTG	p.P893L	CTNNA1_uc011cyx.1_Missense_Mutation_p.P790L|CTNNA1_uc011cyy.1_Missense_Mutation_p.P770L|CTNNA1_uc003ldi.2_Missense_Mutation_p.P591L|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.P523L	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	893					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CACGTGAACCCGGTGCAGGCC	0.542													T	138269735	C	T	138269735	3	4	279	1	0	0	0	0	1	0	0	0	4012	652	23	1	2744	1	CTNNA1	5	138269735	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	466214	138269735	42645525	311	143304											
DNAJC18	202052	broad.mit.edu	37	chr5	138764375	138764375	+	Splice_Site	DEL	A	A	-													tttctgcatttcttgatcctAaaaaaaatcacaagcatgta							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373													-	138764375	A	-	138764375	8	5	279	1	0	1	0	1	0	0	1	0	4637	377	13	0		0	DNAJC18	5	138764375	Splice_Site	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	494640	138764375	42150885	312	143305											
PCDHA5	56143	broad.mit.edu	37	chr5	140202594	140202594	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttggtgctggacagcgccCtggaccgcgagagcgtgtcg	17	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140202594C>A	uc003lhl.2	+	1	1234	c.1234C>A	c.(1234-1236)CTG>ATG	p.L412M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.L412M|PCDHA5_uc003lhj.1_Missense_Mutation_p.L412M	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	412	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCGCCCTGGACCGCGA	0.642													A	140202594	C	A	140202594	3	1	279	1	0	0	0	0	1	0	0	0	11527	680	24	5	1236	5	PCDHA5	5	140202594	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1438219	140202594	40712666	313	143306											
PCDHA7	56141	broad.mit.edu	37	chr5	140215588	140215588	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtgagcgcgcgcgatgcGggcgtgccgcctctgggcag	19	13	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140215588G>T	uc003lhq.2	+	1	1620	c.1620G>T	c.(1618-1620)GCG>GCT	p.A540A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A540A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	540	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.682													T	140215588	G	T	140215588	2	4	279	1	0	0	0	0	0	0	0	1	11529	1103	39	5		5	PCDHA7	5	140215588	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	12994	140215588	40699672	314	143307											
PCDHA11	56138	broad.mit.edu	37	chr5	140250524	140250524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcatatgaattgcagccGgcggcgggcggctcgcgcat	14	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140250524G>A	uc003lia.2	+	1	2694	c.1836G>A	c.(1834-1836)CCG>CCA	p.P612P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.P612P	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	612	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGCAGCCGGCGGCGGGCG	0.682													A	140250524	G	A	140250524	2	1	279	1	0	0	0	0	0	0	0	1	11521	1103	39	1		1	PCDHA11	5	140250524	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	34936	140250524	40664736	315	143308											
PCDHB4	56131	broad.mit.edu	37	chr5	140501700	140501700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggaggaaacagagagCggctcctttgtagcccatct	13	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140501700C>T	uc003lip.1	+	1	120	c.120C>T	c.(118-120)AGC>AGT	p.S40S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	40	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAGAGAGCGGCTCCTTTG	0.537													T	140501700	C	T	140501700	2	4	279	1	0	0	0	0	0	0	0	1	11544	767	27	1		1	PCDHB4	5	140501700	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	251176	140501700	40413560	316	143309											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741226	140741226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcctacgtgtccgtgagCgcgcagagcggggtggtgtt	16	9	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140741226C>T	uc003ljs.1	+	1	1524	c.1524C>T	c.(1522-1524)AGC>AGT	p.S508S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.S508S|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	508	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGTGAGCGCGCAGAGCG	0.662													T	140741226	C	T	140741226	2	4	279	1	0	0	0	0	0	0	0	1	11563	767	27	1		1	PCDHGB2	5	140741226	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	239526	140741226	40174034	317	143310											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762765	140762765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatctgcgctcagagtgCgcggtgtctggtaaacttta	13	8	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:140762765C>T	uc003lka.1	+	1	299	c.299C>T	c.(298-300)GCG>GTG	p.A100V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A100V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	100	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGTGCGCGGTGTCTG	0.483													T	140762765	C	T	140762765	3	4	279	1	0	0	0	0	1	0	0	0	11559	768	27	1	301	1	PCDHGA7	5	140762765	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	21539	140762765	40152495	318	143311											
SPINK5	11005	broad.mit.edu	37	chr5	147480951	147480951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaagaaaaagaaggaAggtaaatcaagaaacaaaag	10	2	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:147480951A>G	uc003lox.2	+	14	1327	c.1254A>G	c.(1252-1254)GAA>GAG	p.E418E	SPINK5_uc010jgs.1_Silent_p.E390E|SPINK5_uc010jgr.2_Silent_p.E399E|SPINK5_uc003low.2_Silent_p.E418E|SPINK5_uc003loy.2_Silent_p.E418E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	418	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGAAGGAAGGTAAATCAA	0.378													G	147480951	A	G	147480951	2	3	279	1	0	0	0	0	0	0	0	1	15061	69	3	3		3	SPINK5	5	147480951	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	6718186	147480951	33434309	319	143312											
SH3TC2	79628	broad.mit.edu	37	chr5	148422396	148422396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctagacacatggatacGtagcctaagaagtcaagcca	9	9	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:148422396G>A	uc003lpu.2	-	5	542	c.390C>T	c.(388-390)TAC>TAT	p.Y130Y	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_5'Flank|SH3TC2_uc003lpt.2_Translation_Start_Site|SH3TC2_uc010jgx.2_Intron|SH3TC2_uc003lpv.1_Translation_Start_Site|SH3TC2_uc011dbz.1_Silent_p.Y15Y	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	130							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATGGATACGTAGCCTAAGA	0.423													A	148422396	G	A	148422396	2	1	279	1	0	0	0	0	0	0	0	1	14262	1140	40	1		1	SH3TC2	5	148422396	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	941445	148422396	32492864	320	143313											
GM2A	2760	broad.mit.edu	37	chr5	150646383	150646383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacctttgaacacttctGtgatgtgcttgacatgttaa	8	8	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:150646383G>A	uc003ltr.3	+	3	500	c.335G>A	c.(334-336)TGT>TAT	p.C112Y	GM2A_uc011dcs.1_RNA|GM2A_uc011dcr.1_Missense_Mutation_p.C112Y|GM2A_uc003ltt.1_Missense_Mutation_p.C44Y|GM2A_uc003ltu.1_5'Flank	NM_000405	NP_000396	P17900	SAP3_HUMAN	GM2 ganglioside activator precursor	112						lysosome|nucleolus	sphingolipid activator protein activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACACTTCTGTGATGTGCTT	0.498													A	150646383	G	A	150646383	3	1	279	1	0	0	0	0	1	0	0	0	6484	1377	48	4	345	4	GM2A	5	150646383	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2223987	150646383	30268877	321	143314											
CYFIP2	26999	broad.mit.edu	37	chr5	156752567	156752567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttaaccatgggccgacgaAtccagttccccatcgagatg	10	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:156752567A>G	uc003lwq.2	+	19	2041	c.1903A>G	c.(1903-1905)ATC>GTC	p.I635V	CYFIP2_uc011ddn.1_Missense_Mutation_p.I609V|CYFIP2_uc011ddo.1_Missense_Mutation_p.I439V|CYFIP2_uc003lwr.2_Missense_Mutation_p.I635V|CYFIP2_uc003lws.2_Missense_Mutation_p.I635V|CYFIP2_uc003lwt.2_Missense_Mutation_p.I538V|CYFIP2_uc011ddp.1_Missense_Mutation_p.I369V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	660					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			GGGCCGACGAATCCAGTTCCC	0.527													G	156752567	A	G	156752567	3	3	279	1	0	0	0	0	1	0	0	0	4138	101	4	3	1965	3	CYFIP2	5	156752567	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	6106184	156752567	24162693	322	143315											
TTC1	7265	broad.mit.edu	37	chr5	159437837	159437837	+	Frame_Shift_Del	DEL	A	A	-													agaatacctaatagaactggAaaaaaacatgtcggatgaag					rs17849377		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:159437836_159437836GA>G	uc003lxu.3	+	1	351	c.301_301GA>G	c.(301-303)gaafs	p.E101fs		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	101				E -> K (in Ref. 4; AAH00942).	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)		AATAGAACTGGAAAAAAACAT	0.378													-	159437837	A	-	159437837	7	5	279	1	0	1	0	1	0	0	0	0	16675	246	9	0	304	0	TTC1	5	159437837	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	2685270	159437837	21477423	323	143316											
ODZ2	57451	broad.mit.edu	37	chr5	167545433	167545433	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgggggccacggctcCtgcattgatgggaactgtgt	15	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:167545433C>A	uc010jjd.2	+	10	1950	c.1950C>A	c.(1948-1950)TCC>TCA	p.S650S	ODZ2_uc003lzq.2_Silent_p.S529S|ODZ2_uc003lzr.3_Silent_p.S418S|ODZ2_uc003lzt.3_Silent_p.S14S|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCCACGGCTCCTGCATTGATG	0.617													A	167545433	C	A	167545433	2	1	279	1	0	0	0	0	0	0	0	1	10835	668	24	5		5	ODZ2	5	167545433	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8107596	167545433	13369827	324	143317											
CDHR2	54825	broad.mit.edu	37	chr5	176004677	176004677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagaacttctccgtcGccatggtgaccatccacctt	7	16	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176004677G>A	uc003mem.1	+	14	1456	c.1390G>A	c.(1390-1392)GCC>ACC	p.A464T	CDHR2_uc003men.1_Missense_Mutation_p.A464T	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	464	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CTTCTCCGTCGCCATGGTGAC	0.637													A	176004677	G	A	176004677	3	1	279	1	0	0	0	0	1	0	0	0	3119	1087	38	1	1440	1	CDHR2	5	176004677	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8459244	176004677	4910583	325	143318											
UIMC1	51720	broad.mit.edu	37	chr5	176397788	176397788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagagctcctcttcttcCtcctcctggctgttcacctc	5	18	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176397788C>T	uc011dfp.1	-	4	479	c.312G>A	c.(310-312)GAG>GAA	p.E104E	UIMC1_uc003mfc.1_5'UTR|UIMC1_uc003mfd.1_5'UTR|UIMC1_uc003mfg.1_Silent_p.E104E|UIMC1_uc003mfh.1_Silent_p.E104E|UIMC1_uc010jkj.1_Silent_p.E104E|UIMC1_uc011dfq.1_Silent_p.E104E|UIMC1_uc003mff.1_5'Flank	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	104	Necessary for interaction with NR6A1 N- terminus.|UIM 2.|Glu-rich.				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			ovary(3)|skin(1)	4	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)			CCTCTTCTTCCTCCTCCTGGC	0.438													T	176397788	C	T	176397788	2	4	279	1	0	0	0	0	0	0	0	1	16968	680	24	4		4	UIMC1	5	176397788	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	393111	176397788	4517472	326	143319											
NSD1	64324	broad.mit.edu	37	chr5	176710894	176710894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgaatggagatacccGtgtaggcctttttgcactaa	11	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176710894G>A	uc003mfr.3	+	20	6254	c.6116G>A	c.(6115-6117)CGT>CAT	p.R2039H	NSD1_uc003mft.3_Missense_Mutation_p.R1770H|NSD1_uc011dfx.1_Missense_Mutation_p.R1687H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2039	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			ovary(2)|kidney(1)	3	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)		GGAGATACCCGTGTAGGCCTT	0.423			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			A	176710894	G	A	176710894	3	1	279	1	0	0	0	0	1	0	0	0	10669	1145	40	1	6190	1	NSD1	5	176710894	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	313106	176710894	4204366	327	143320											
DBN1	1627	broad.mit.edu	37	chr5	176885651	176885651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatggggccggcccaggccTgaggggctgctgctctggtc	17	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:176885651T>C	uc003mgy.2	-	12	1356	c.1184A>G	c.(1183-1185)CAG>CGG	p.Q395R	DBN1_uc011dga.1_Missense_Mutation_p.Q127R|DBN1_uc003mgx.2_Missense_Mutation_p.Q397R|DBN1_uc010jkn.1_Missense_Mutation_p.Q345R|DBN1_uc003mgz.1_Missense_Mutation_p.Q378R	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	395					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	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)			GGCCCAGGCCTGAGGGGCTGC	0.662													C	176885651	T	C	176885651	3	2	279	1	0	0	0	0	1	0	0	0	4252	1580	55	3	777	3	DBN1	5	176885651	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	174757	176885651	4029609	328	143321											
ZNF354A	6940	broad.mit.edu	37	chr5	178140326	178140327	+	Frame_Shift_Ins	INS	-	-	T													atttcacattttggtggtgtINStttttctctgggaagtatct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:178140325_178140326G>GT	uc003mjj.3	-	4	751_752	c.553_554C>AC	c.(553-555)acafs	p.T185fs		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	185					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		TTTTGGTGGTGTTTTTTCTCTG	0.356													T	178140327	-	T	178140326	7	5	279	1	0	1	1	0	0	0	0	0	17861	1725	60	0	1268	0	ZNF354A	5	178140326	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1254675	178140326	2774934	329	143322											
RUFY1	80230	broad.mit.edu	37	chr5	178994485	178994485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgggaagaggccgagCgtggctttatcttgcactca	14	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr5:178994485C>T	uc003mka.1	+	4	626	c.626C>T	c.(625-627)GCG>GTG	p.A209V	RUFY1_uc003mkb.1_Missense_Mutation_p.A101V|RUFY1_uc003mkc.1_Missense_Mutation_p.A101V	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	209	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	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)			AGAGGCCGAGCGTGGCTTTAT	0.403										HNSCC(44;0.11)			T	178994485	C	T	178994485	3	4	279	1	0	0	0	0	1	0	0	0	13738	768	27	1	640	1	RUFY1	5	178994485	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	854159	178994485	1920775	330	143323											
DSP	1832	broad.mit.edu	37	chr6	7569500	7569500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgacgggcccgggaggcGttgacatgcttgttccctct	14	12	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:7569500G>A	uc003mxp.1	+	12	1780	c.1501G>A	c.(1501-1503)GTT>ATT	p.V501I	DSP_uc003mxq.1_Missense_Mutation_p.V501I	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	501	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			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCCGGGAGGCGTTGACATGCT	0.562													A	7569500	G	A	7569500	3	1	279	1	0	0	0	0	1	0	0	0	4781	1145	40	1	1547	1	DSP	6	7569500	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		7569500	163545567	331	143324											
DSP	1832	broad.mit.edu	37	chr6	7580631	7580631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatctcacccgagaaaacaGgagcttatctgaagaaataa	7	9	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:7580631G>T	uc003mxp.1	+	23	4487	c.4208G>T	c.(4207-4209)AGG>ATG	p.R1403M	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1403	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGAGAAAACAGGAGCTTATCT	0.488													T	7580631	G	T	7580631	3	4	279	1	0	0	0	0	1	0	0	0	4781	1000	35	5	4298	5	DSP	6	7580631	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	11131	7580631	163534436	332	143325											
SNRNP48	154007	broad.mit.edu	37	chr6	7595261	7595261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttttttttttgacagaTaaggactcacaattccagat	5	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:7595261T>C	uc003mxr.2	+	4	392	c.333T>C	c.(331-333)AAT>AAC	p.N111N	SNRNP48_uc003mxs.2_RNA	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	111					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						TTTTGACAGATAAGGACTCAC	0.333													C	7595261	T	C	7595261	2	2	279	1	0	0	0	0	0	0	0	1	14857	1420	49	3		3	SNRNP48	6	7595261	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	14630	7595261	163519806	333	143326											
RANBP9	10048	broad.mit.edu	37	chr6	13634728	13634728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taccatttaggaaaccattgGatgaagtttctccaactcca	6	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:13634728G>A	uc003nbb.2	-	11	1789	c.1730C>T	c.(1729-1731)TCC>TTC	p.S577F	RANBP9_uc003nba.2_Missense_Mutation_p.S236F	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	577					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAAACCATTGGATGAAGTTTC	0.338													A	13634728	G	A	13634728	3	1	279	1	0	0	0	0	1	0	0	0	13032	1174	41	4	475	4	RANBP9	6	13634728	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6039467	13634728	157480339	334	143327											
JARID2	3720	broad.mit.edu	37	chr6	15496636	15496637	+	Frame_Shift_Ins	INS	-	-	G													caaacaggtgctatccctcgINSggggggcgtccaagtccact							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:15496635_15496636C>CG	uc003nbj.3	+	6	1423_1424	c.1179_1180C>CG	c.(1177-1182)ctcgggfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Ins_p.L257fs|JARID2_uc011div.2_Frame_Shift_Ins_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Ins_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					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	p.L393L(2)		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)				TGCTATCCCTCGGGGGGGCGTC	0.574													G	15496637	-	G	15496636	7	5	279	1	0	1	1	0	0	0	0	0	7945	1116	39	0	1206	0	JARID2	6	15496636	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1861908	15496636	155618431	335	143328											
JARID2	3720	broad.mit.edu	37	chr6	15520474	15520474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccaaaagtgcttcgagcTcatcatgaagatgccaacgc	8	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:15520474T>C	uc003nbj.2	+	18	3977	c.3733T>C	c.(3733-3735)TCA>CCA	p.S1245P	JARID2_uc011div.1_Missense_Mutation_p.S1073P	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1245	Poly-Ser.				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			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				tgcttcgagctcatcatgaag	0.343													C	15520474	T	C	15520474	3	2	279	1	0	0	0	0	1	0	0	0	7945	1551	54	3	3803	3	JARID2	6	15520474	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	23838	15520474	155594593	336	143329											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156941	26156941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggttccttcaaactcaAcaagaaggcggcctctgggg	13	11	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:26156941A>G	uc003ngq.2	+	1	383	c.323A>G	c.(322-324)AAC>AGC	p.N108S	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	108	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						TTCAAACTCAACAAGAAGGCG	0.612													G	26156941	A	G	26156941	3	3	279	1	0	0	0	0	1	0	0	0	7126	43	2	3	325	3	HIST1H1E	6	26156941	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	10636467	26156941	144958126	337	143330											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093420	28093420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagctgtgggagctctgcCgtcagtggctgaggccagaa	15	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:28093420C>T	uc003nkm.2	+	2	299	c.199C>T	c.(199-201)CGT>TGT	p.R67C	uc010jqw.1_Intron|uc003nkk.1_RNA|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Missense_Mutation_p.R67C	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GGAGCTCTGCCGTCAGTGGCT	0.532													T	28093420	C	T	28093420	3	4	279	1	0	0	0	0	1	0	0	0	18226	652	23	1	201	1	ZSCAN16	6	28093420	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1936479	28093420	143021647	338	143331											
SCAND3	114821	broad.mit.edu	37	chr6	28543300	28543300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagagatcttgataatgCaaaataaatctgtactcccc	6	9	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:28543300C>T	uc003nlo.2	-	3	1800	c.1182G>A	c.(1180-1182)TTG>TTA	p.L394L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	394	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTGATAATGCAAAATAAATC	0.333													T	28543300	C	T	28543300	2	4	279	1	0	0	0	0	0	0	0	1	13876	709	25	2		2	SCAND3	6	28543300	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	449880	28543300	142571767	339	143332											
OR12D3	81797	broad.mit.edu	37	chr6	29342656	29342656	+	Frame_Shift_Del	DEL	G	G	-													tgccaacagaatacacacctGggggttcatgatgacagtgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:29342655_29342655TG>T	uc003nme.3	-	0	414	c.410_410CA>A	c.(409-411)cagfs	p.Q137fs		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	137					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						AATACACACCTGGGGGTTCAT	0.493													-	29342656	G	-	29342656	7	5	279	1	0	1	0	1	0	0	0	0	10932	1357	47	0	545	0	OR12D3	6	29342656	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	799356	29342656	141772411	340	143333											
OR10C1	442194	broad.mit.edu	37	chr6	29408447	29408447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctgggctcctacgggCgtatcctcgttaccatcttc	8	15	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:29408447C>T	uc011dlp.1	+	1	655	c.655C>T	c.(655-657)CGT>TGT	p.R219C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCCTACGGGCGTATCCTCGT	0.582													T	29408447	C	T	29408447	3	4	279	1	0	0	0	0	1	0	0	0	10898	768	27	1	657	1	OR10C1	6	29408447	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	65791	29408447	141706620	341	143334											
C6orf47	57827	broad.mit.edu	37	chr6	31627249	31627249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagctcctggttcccccCgcagccagcccaacagcttc	10	18	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:31627249C>T	uc003nvm.1	-	1	1301	c.476G>A	c.(475-477)CGG>CAG	p.R159Q		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	159										ovary(1)	1						TGGTTCCCCCCGCAGCCAGCC	0.642													T	31627249	C	T	31627249	3	4	279	1	0	0	0	0	1	0	0	0	2364	652	23	1	412	1	C6orf47	6	31627249	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2218802	31627249	139487818	342	143335											
RDBP	7936	broad.mit.edu	37	chr6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-													tcctcttcctcgctcagtccGgggggtatcaccaacatggt					rs146039608		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542													-	31926206	G	-	31926206	7	5	279	1	0	1	0	1	0	0	0	0	13188	1103	39	0	1164	0	RDBP	6	31926206	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	298957	31926206	139188861	343	143336											
BTNL2	56244	broad.mit.edu	37	chr6	32363934	32363934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggtcagtctgccctcGtcaatggcgtcactcaccag	11	14	5	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:32363934G>A	uc003obg.1	-	5	960	c.960C>T	c.(958-960)GAC>GAT	p.D320D	BTNL2_uc010jty.1_Silent_p.D43D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.D110D	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2	320	Extracellular (Potential).|Ig-like V-type 3.					integral to membrane				central_nervous_system(1)	1						GTCTGCCCTCGTCAATGGCGT	0.547													A	32363934	G	A	32363934	2	1	279	1	0	0	0	0	0	0	0	1	1565	1136	40	1		1	BTNL2	6	32363934	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	437728	32363934	138751133	344	143337											
BRD2	6046	broad.mit.edu	37	chr6	32947844	32947844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttttgaaacactcaagccatCcacacttagagagcttgagc	7	11	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:32947844C>A	uc003ocn.3	+	11	3782	c.2081C>A	c.(2080-2082)TCC>TAC	p.S694Y	BRD2_uc003ocq.3_Missense_Mutation_p.S694Y|BRD2_uc003ocp.3_Missense_Mutation_p.S574Y|BRD2_uc010juh.2_Missense_Mutation_p.S729Y	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	694	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTCAAGCCATCCACACTTAGA	0.468													A	32947844	C	A	32947844	3	1	279	1	0	0	0	0	1	0	0	0	1502	855	30	5	2119	5	BRD2	6	32947844	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	583910	32947844	138167223	345	143338											
RING1	6015	broad.mit.edu	37	chr6	33178990	33178990	+	Frame_Shift_Del	DEL	G	G	-													atcagaccacaacgatgagtGggggggaaggagagcccggg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33178989_33178989TG>T	uc003odk.3	+	4	704	c.510_510TG>T	c.(508-510)agtfs	p.S170fs	RING1_uc011dqx.1_Frame_Shift_Del_p.S170fs|RING1_uc003odl.3_Frame_Shift_Del_p.S141fs	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAG	0.617													-	33178990	G	-	33178990	7	5	279	1	0	1	0	1	0	0	0	0	13374	1348	47	0	525	0	RING1	6	33178990	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	231146	33178990	137936077	346	143339											
B3GALT4	8705	broad.mit.edu	37	chr6	33245676	33245676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctcagcgggctgaactgGgctgagaaacactgccccat	11	14	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33245676G>T	uc003odr.2	+	1	760	c.480G>T	c.(478-480)TGG>TGT	p.W160C		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	160	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GGCTGAACTGGGCTGAGAAAC	0.597													T	33245676	G	T	33245676	3	4	279	1	0	0	0	0	1	0	0	0	1249	1241	43	5	482	5	B3GALT4	6	33245676	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	66686	33245676	137869391	347	143340											
ITPR3	3710	broad.mit.edu	37	chr6	33608274	33608274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaggctggtggatgacCgctgtgtggtggagcccgcg	17	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33608274C>T	uc011drk.1	+	2	322	c.103C>T	c.(103-105)CGC>TGC	p.R35C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	35	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GGTGGATGACCGCTGTGTGGT	0.632													T	33608274	C	T	33608274	3	4	279	1	0	0	0	0	1	0	0	0	7922	652	23	1	109	1	ITPR3	6	33608274	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	362598	33608274	137506793	348	143341											
LEMD2	221496	broad.mit.edu	37	chr6	33740534	33740534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaactccacagctcggtcCcagacacgcttcatgcgcct	9	16	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:33740534C>A	uc011drm.1	-	9	1396	c.1383G>T	c.(1381-1383)TGG>TGT	p.W461C	LEMD2_uc010jvg.2_Missense_Mutation_p.W170C|LEMD2_uc011drl.1_Missense_Mutation_p.W159C|LEMD2_uc003ofe.2_Missense_Mutation_p.W159C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	LEM domain containing 2 isoform 1	461						integral to nuclear inner membrane				central_nervous_system(1)	1						CAGCTCGGTCCCAGACACGCT	0.627													A	33740534	C	A	33740534	3	1	279	1	0	0	0	0	1	0	0	0	8720	624	22	5	132	5	LEMD2	6	33740534	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	132260	33740534	137374533	349	143342											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839369	34839369	+	Frame_Shift_Del	DEL	C	C	-													tctttcctgcaggatgatatCccccccatctatccaacatc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:34839368_34839368TC>T	uc003oju.4	+	18	4223	c.3989_3989TC>T	c.(3988-3990)atcfs	p.I1330fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATC	0.512													-	34839369	C	-	34839369	7	5	279	1	0	1	0	1	0	0	0	0	16965	845	30	0	4064	0	UHRF1BP1	6	34839369	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	1098835	34839369	136275698	350	143343											
ANKS1A	23294	broad.mit.edu	37	chr6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-													tacaaaagaagtagataaaaCccccccaccccagccacctc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:34951142_34951142AC>A	uc003ojx.4	+	6	1094	c.952_952AC>A	c.(952-954)accfs	p.T318fs	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	318						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGATAAAACCCCCCCACC	0.423													-	34951143	C	-	34951143	7	5	279	1	0	1	0	1	0	0	0	0	688	507	18	0	979	0	ANKS1A	6	34951143	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	111774	34951143	136163924	351	143344											
TCP11	6954	broad.mit.edu	37	chr6	35088313	35088313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgttggctgcctcattggGagaggggccagccacactgg	16	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:35088313G>A	uc003okd.2	-	7	1046	c.865C>T	c.(865-867)CCC>TCC	p.P289S	TCP11_uc003ojz.1_Missense_Mutation_p.P214S|TCP11_uc003oka.2_Missense_Mutation_p.P214S|TCP11_uc003okb.2_Missense_Mutation_p.P213S|TCP11_uc003okc.2_Missense_Mutation_p.P213S|TCP11_uc011dsu.1_Missense_Mutation_p.P271S|TCP11_uc011dsv.1_Missense_Mutation_p.P238S|TCP11_uc011dsw.1_Missense_Mutation_p.P243S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	276					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						GCCTCATTGGGAGAGGGGCCA	0.567													A	35088313	G	A	35088313	3	1	279	1	0	0	0	0	1	0	0	0	15710	1174	41	4	701	4	TCP11	6	35088313	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	137170	35088313	136026754	352	143345											
DNAH8	1769	broad.mit.edu	37	chr6	38840716	38840716	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcattttagatggtcctgtGgatgccatctggattgagaa	11	7	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:38840716G>T	uc003ooe.1	+	49	7221	c.6621G>T	c.(6619-6621)GTG>GTT	p.V2207V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATGGTCCTGTGGATGCCATCT	0.348													T	38840716	G	T	38840716	2	4	279	1	0	0	0	0	0	0	0	1	4607	1335	47	5		5	DNAH8	6	38840716	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3752403	38840716	132274351	353	143346											
DNAH8	1769	broad.mit.edu	37	chr6	38942265	38942265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatttacccatgtggaagcCgatgctttacacagtagcat	8	9	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:38942265C>T	uc003ooe.1	+	83	12743	c.12143C>T	c.(12142-12144)CCG>CTG	p.P4048L	DNAH8_uc003oog.1_Missense_Mutation_p.P497L	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATGTGGAAGCCGATGCTTTAC	0.458													T	38942265	C	T	38942265	3	4	279	1	0	0	0	0	1	0	0	0	4607	652	23	1	12465	1	DNAH8	6	38942265	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	101549	38942265	132172802	354	143347											
LRFN2	57497	broad.mit.edu	37	chr6	40359938	40359938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggagcaggctcctggccCgggccgcagggggccccagc	19	15	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:40359938C>T	uc003oph.1	-	3	2579	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	705	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCTCCTGGCCCGGGCCGCAGG	0.726													T	40359938	C	T	40359938	3	4	279	1	0	0	0	0	1	0	0	0	8938	652	23	1	259	1	LRFN2	6	40359938	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1417673	40359938	130755129	355	143348											
TBCC	6903	broad.mit.edu	37	chr6	42712855	42712855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccagccagttaaaatcGtcaacatcgttccagttatt	8	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:42712855G>A	uc003osl.2	-	1	1030	c.957C>T	c.(955-957)GAC>GAT	p.D319D		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	319	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|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;0.125)			AGTTAAAATCGTCAACATCGT	0.502													A	42712855	G	A	42712855	2	1	279	1	0	0	0	0	0	0	0	1	15628	1136	40	1		1	TBCC	6	42712855	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2352917	42712855	128402212	356	143349											
KIAA0240	23506	broad.mit.edu	37	chr6	42796578	42796578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctataggggtgacGcatgtgcctgttggagcatc	14	10	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:42796578G>A	uc003osn.1	+	6	658	c.507G>A	c.(505-507)ACG>ACA	p.T169T	KIAA0240_uc003osm.1_Silent_p.T169T|KIAA0240_uc011duw.1_Silent_p.T169T|KIAA0240_uc003oso.1_Silent_p.T169T|KIAA0240_uc003osp.1_Silent_p.T169T	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	169										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TAGGGGTGACGCATGTGCCTG	0.473													A	42796578	G	A	42796578	2	1	279	1	0	0	0	0	0	0	0	1	8164	1074	38	1		1	KIAA0240	6	42796578	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	83723	42796578	128318489	357	143350											
CUL7	9820	broad.mit.edu	37	chr6	43020085	43020085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggggctcaatgctggCataggcgctgagcacgtgga	17	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:43020085C>T	uc003otq.2	-	2	745	c.442G>A	c.(442-444)GCC>ACC	p.A148T	CUL7_uc011dvb.1_Missense_Mutation_p.A200T|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	148					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			TCAATGCTGGCATAGGCGCTG	0.552													T	43020085	C	T	43020085	3	4	279	1	0	0	0	0	1	0	0	0	4060	710	25	2	4850	2	CUL7	6	43020085	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	223507	43020085	128094982	358	143351											
CUL9	23113	broad.mit.edu	37	chr6	43192089	43192089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatgaggagctggacaAtgacagcttctcctacgatg	12	8	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:43192089A>G	uc003ouk.2	+	41	7535	c.7460A>G	c.(7459-7461)AAT>AGT	p.N2487S	CUL9_uc003oul.2_Missense_Mutation_p.N2459S|CUL9_uc010jyk.2_Missense_Mutation_p.N1639S|CUL9_uc003oun.2_Missense_Mutation_p.N282S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2487					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GAGCTGGACAATGACAGCTTC	0.547													G	43192089	A	G	43192089	3	3	279	1	0	0	0	0	1	0	0	0	4061	101	4	3	7618	3	CUL9	6	43192089	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	172004	43192089	127922978	359	143352											
HMGCLL1	54511	broad.mit.edu	37	chr6	55443799	55443799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgatccagagatgctcccGgagaagctgctggtagctga	13	12	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:55443799G>A	uc003pcn.2	-	1	214	c.55C>T	c.(55-57)CGG>TGG	p.R19W	HMGCLL1_uc003pco.2_Missense_Mutation_p.R19W|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.R19W|HMGCLL1_uc011dxd.1_Missense_Mutation_p.R19W|HMGCLL1_uc011dxe.1_Missense_Mutation_p.R19W|HMGCLL1_uc003pcp.2_Missense_Mutation_p.R19W	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	19							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGATGCTCCCGGAGAAGCTGC	0.682													A	55443799	G	A	55443799	3	1	279	1	0	0	0	0	1	0	0	0	7230	1115	39	1	1097	1	HMGCLL1	6	55443799	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	12251710	55443799	115671268	360	143353											
PHF3	23469	broad.mit.edu	37	chr6	64410356	64410356	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgaagagaaaacagacaTgtaagattatctataaatat	7	4	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:64410356T>C	uc003pep.1	+	8	3125	c.3099T>C	c.(3097-3099)CAT>CAC	p.H1033H	PHF3_uc010kah.1_Silent_p.H847H|PHF3_uc003pen.2_Silent_p.H945H|PHF3_uc011dxs.1_Silent_p.H302H	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1033	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			AAAACAGACATGTAAGATTAT	0.338													C	64410356	T	C	64410356	2	2	279	1	0	0	0	0	0	0	0	1	11836	1478	51	3		3	PHF3	6	64410356	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	8966557	64410356	106704711	361	143354											
KIAA1009	22832	broad.mit.edu	37	chr6	84925098	84925098	+	Frame_Shift_Del	DEL	A	A	-													aagcctttctcaagcctggcAaaaaattgttctttctcctc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:84925098delA	uc010kbp.2	-	5	502	c.405delT	c.(403-405)TTTfs	p.F135fs	KIAA1009_uc003pkj.3_Frame_Shift_Del_p.F59fs|KIAA1009_uc003pkk.2_Frame_Shift_Del_p.F135fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	135					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		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)		CAAGCCTGGCAAAAAATTGTT	0.368													-	84925098	A	-	84925098	7	5	279	1	0	1	0	1	0	0	0	0	8203	127	5	0	3898	0	KIAA1009	6	84925098	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	20514742	84925098	86189969	362	143355											
HTR1E	3354	broad.mit.edu	37	chr6	87725847	87725848	+	Frame_Shift_Ins	INS	-	-	C													tccatgcctccatcaggatcINSccccccttcgacaatgatct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:87725846_87725847T>TC	uc003pli.3	+	1	1497_1498	c.794_795T>TC	c.(793-795)atcfs	p.I265fs	HTR1E_uc021zcg.1_Frame_Shift_Ins_p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		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)	TCCATCAGGATCCCCCCCTTCG	0.51													C	87725848	-	C	87725847	7	5	279	1	0	1	1	0	0	0	0	0	7439	845	30	0	797	0	HTR1E	6	87725847	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	2800749	87725847	83389220	363	143356											
RNGTT	8732	broad.mit.edu	37	chr6	89616132	89616132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatatgaggaaaccagtgCgattgaagccatgagtacaa	10	8	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:89616132C>T	uc003pmr.2	-	5	615	c.395G>A	c.(394-396)CGC>CAC	p.R132H	RNGTT_uc003pms.2_Missense_Mutation_p.R132H|RNGTT_uc011dzu.1_Missense_Mutation_p.R72H|RNGTT_uc003pmt.2_Missense_Mutation_p.R132H	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	132	TPase.				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			upper_aerodigestive_tract(1)	1		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)		GAAACCAGTGCGATTGAAGCC	0.323													T	89616132	C	T	89616132	3	4	279	1	0	0	0	0	1	0	0	0	13503	768	27	1	1446	1	RNGTT	6	89616132	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1890285	89616132	81498935	364	143357											
PNRC1	10957	broad.mit.edu	37	chr6	89793839	89793839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctagtcactggatgggaaGcactgttgaaaattccaacc	9	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:89793839G>C	uc003pmv.2	+	2	1093	c.908G>C	c.(907-909)AGC>ACC	p.S303T	PNRC1_uc003pmx.2_Missense_Mutation_p.S118T	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		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)		TGGATGGGAAGCACTGTTGAA	0.418										Multiple Myeloma(7;0.094)			C	89793839	G	C	89793839	3	2	279	1	0	0	0	0	1	0	0	0	12174	971	34	5	914	5	PNRC1	6	89793839	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	177707	89793839	81321228	365	143358											
MDN1	23195	broad.mit.edu	37	chr6	90461182	90461182	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actcggactatatctctcagGttcagcttcacagaagatgt	8	10	4	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:90461182G>C	uc003pnn.1	-	23	3311	c.3195C>G	c.(3193-3195)AAC>AAG	p.N1065K	MDN1_uc003pno.1_Missense_Mutation_p.N484K	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1065					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		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)		TATCTCTCAGGTTCAGCTTCA	0.488													C	90461182	G	C	90461182	3	2	279	1	0	0	0	0	1	0	0	0	9415	1252	44	5	13915	5	MDN1	6	90461182	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	667343	90461182	80653885	366	143359											
BACH2	60468	broad.mit.edu	37	chr6	90647937	90647937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgctgggccgcgatgcGgttcttgctgcgccgtcgga	17	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:90647937G>A	uc011eab.1	-	8	2778	c.1969C>T	c.(1969-1971)CGC>TGC	p.R657C	BACH2_uc003pnw.2_Missense_Mutation_p.R657C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	657	Basic motif.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		GCCGCGATGCGGTTCTTGCTG	0.453													A	90647937	G	A	90647937	3	1	279	1	0	0	0	0	1	0	0	0	1284	1116	39	1	564	1	BACH2	6	90647937	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	186755	90647937	80467130	367	143360											
SLC35F1	222553	broad.mit.edu	37	chr6	118228882	118228882	+	Translation_Start_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgccgccgcgcctcagcctCtgccgcgatgatcccccctg	10	21	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:118228882C>A	uc003pxx.3	+	1	194	c.-7C>A	c.(-9--5)CTCTG>CTATG			NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		GCCTCAGCCTCTGCCGCGATG	0.637													A	118228882	C	A	118228882	1	1	279	1	0	0	0	0	0	0	0	0	14588	928	32	5		5	SLC35F1	6	118228882	Translation_Start_Site	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	27580945	118228882	52886185	368	143361											
FAM184A	79632	broad.mit.edu	37	chr6	119345439	119345439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtcttagctcctcaagCattttgtttagggactccac	7	11	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:119345439C>T	uc003pyj.2	-	2	1047	c.699G>A	c.(697-699)ATG>ATA	p.M233I	FAM184A_uc003pyk.3_Missense_Mutation_p.M113I|FAM184A_uc003pyl.3_Missense_Mutation_p.M113I	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	233	Potential.									ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						GCTCCTCAAGCATTTTGTTTA	0.418													T	119345439	C	T	119345439	3	4	279	1	0	0	0	0	1	0	0	0	5511	710	25	2	2791	2	FAM184A	6	119345439	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1116557	119345439	51769628	369	143362											
IFNGR1	3459	broad.mit.edu	37	chr6	137540418	137540418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggtgcccatctcagccCtgctcacaccctgcatgaca	8	19	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:137540418C>T	uc003qho.2	-	1	150	c.47G>A	c.(46-48)AGG>AAG	p.R16K	IFNGR1_uc011edm.1_5'Flank|IFNGR1_uc011edn.1_5'UTR	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	16					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CATCTCAGCCCTGCTCACACC	0.697													T	137540418	C	T	137540418	3	4	279	1	0	0	0	0	1	0	0	0	7549	681	24	4	1450	4	IFNGR1	6	137540418	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	18194979	137540418	33574649	370	143363											
TNFAIP3	7128	broad.mit.edu	37	chr6	138199749	138199749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatgtaaaatgtgaaacGcccaactgccccttcttcat	7	11	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:138199749G>A	uc003qhr.2	+	7	1233	c.1167G>A	c.(1165-1167)ACG>ACA	p.T389T	TNFAIP3_uc003qhs.2_Silent_p.T389T	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	389	Interaction with NAF1 (By similarity).|A20-type 1.				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?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AATGTGAAACGCCCAACTGCC	0.527			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								A	138199749	G	A	138199749	2	1	279	1	0	0	0	0	0	0	0	1	16271	1074	38	1		1	TNFAIP3	6	138199749	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	659331	138199749	32915318	371	143364											
PERP	64065	broad.mit.edu	37	chr6	138417555	138417557	+	In_Frame_Del	DEL	GAA	GAA	-													atctggggtccacagagggcGaagaaggagaggatgaaaca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:138417555_138417557delGAA	uc003qht.2	-	2	472_474	c.289_291delTTC	c.(289-291)TTCdel	p.F97del		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	97	Helical; (Potential).				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CACAGAGGGCGAAGAAGGAGAGG	0.498													-	138417557	GAA	-	138417555	7	5	279	1	0	1	0	1	0	0	0	0	11732	1049	37	0	298	0	PERP	6	138417555	In_Frame_Del	DEL	GAA	TCGA-HU-A4H3-01A-21D-A25D-08	217806	138417555	32697512	372	143365											
HIVEP2	3097	broad.mit.edu	37	chr6	143081634	143081635	+	Frame_Shift_Ins	INS	-	-	T													ctggtgcttcttgatcttgtINSttttggtgttaaatctccct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:143081633_143081634G>GT	uc003qjd.3	-	8	6534_6535	c.5791_5792C>AC	c.(5791-5793)acafs	p.T1931fs		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1931					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)		TCTTGATCTTGTTTTTGGTGTT	0.485													T	143081635	-	T	143081634	7	5	279	1	0	1	1	0	0	0	0	0	7187	1725	60	0	1557	0	HIVEP2	6	143081634	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	4664079	143081634	28033433	373	143366											
HIVEP2	3097	broad.mit.edu	37	chr6	143093660	143093660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccatggcaaatccactcCtgactccttcctgcatctgc	6	17	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:143093660C>A	uc003qjd.2	-	5	2959	c.2216G>T	c.(2215-2217)AGG>ATG	p.R739M		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAATCCACTCCTGACTCCTTC	0.537													A	143093660	C	A	143093660	3	1	279	1	0	0	0	0	1	0	0	0	7187	681	24	5	5148	5	HIVEP2	6	143093660	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	12026	143093660	28021407	374	143367											
SASH1	23328	broad.mit.edu	37	chr6	148761499	148761499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttctctcgtaggagtcGcttggcttctgtagcgccgt	11	11	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:148761499G>A	uc003qme.1	+	4	817	c.342G>A	c.(340-342)TCG>TCA	p.S114S		NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	114							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGTAGGAGTCGCTTGGCTTCT	0.473													A	148761499	G	A	148761499	2	1	279	1	0	0	0	0	0	0	0	1	13848	1074	38	1		1	SASH1	6	148761499	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5667839	148761499	22353568	375	143368											
KATNA1	11104	broad.mit.edu	37	chr6	149916287	149916287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccatagttgtaggcatgTgcatttcttctttggaaaga	9	8	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:149916287T>C	uc003qmr.1	-	10	1406	c.1361A>G	c.(1360-1362)CAC>CGC	p.H454R	KATNA1_uc003qms.2_Missense_Mutation_p.H454R|KATNA1_uc003qmt.2_3'UTR	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	454					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			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TGTAGGCATGTGCATTTCTTC	0.403													C	149916287	T	C	149916287	3	2	279	1	0	0	0	0	1	0	0	0	7984	1696	59	3	118	3	KATNA1	6	149916287	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1154788	149916287	21198780	376	143369											
SYNE1	23345	broad.mit.edu	37	chr6	152621778	152621778	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccaactgggaggtacctGgttaacagaagcatctgtat	11	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:152621778G>A	uc010kiw.2	-	93	18282	c.17680C>T	c.(17680-17682)CAG>TAG	p.Q5894*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q418*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q418*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q5823*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q5894*|SYNE1_uc010kiy.1_Intron	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5894	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAGGTACCTGGTTAACAGAA	0.502										HNSCC(10;0.0054)			A	152621778	G	A	152621778	4	1	279	1	0	0	0	0	0	1	0	0	15442	1357	47	4	9002	4	SYNE1	6	152621778	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2705491	152621778	18493289	377	143370											
SYNE1	23345	broad.mit.edu	37	chr6	152640107	152640107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgccggctgagttcctggCtcgtggccttgctctgctca	12	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:152640107C>A	uc010kiw.2	-	85	16882	c.16280G>T	c.(16279-16281)AGC>ATC	p.S5427I	SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Missense_Mutation_p.S5356I|SYNE1_uc003qou.3_Missense_Mutation_p.S5427I|SYNE1_uc010kiz.2_Missense_Mutation_p.S1182I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5427	Potential.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCTGGCTCGTGGCCTT	0.373										HNSCC(10;0.0054)			A	152640107	C	A	152640107	3	1	279	1	0	0	0	0	1	0	0	0	15442	797	28	5	10434	5	SYNE1	6	152640107	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	18329	152640107	18474960	378	143371											
ARID1B	57492	broad.mit.edu	37	chr6	157502210	157502211	+	Frame_Shift_Del	DEL	AG	AG	-													cgatacctcaccttcatggaAgagagaggctctcctgtctc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:157502209_157502210AAG>A	uc003qqp.3	+	10	3203_3204	c.3203_3204AAG>A	c.(3202-3204)gaafs	p.E1068fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.E1081fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.E1121fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1068	ARID.				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)		ACCTTCATGGAAGAGAGAGGCT	0.579													-	157502211	AG	-	157502210	7	5	279	1	0	1	0	1	0	0	0	0	914	69	3	0	3289	0	ARID1B	6	157502210	Frame_Shift_Del	DEL	AG	TCGA-HU-A4H3-01A-21D-A25D-08	4862103	157502210	13612857	379	143372											
ARID1B	57492	broad.mit.edu	37	chr6	157528046	157528046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggaggacgagcccaGgagccgagacgagactcctc	15	13	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:157528046G>T	uc003qqn.2	+	20	5869	c.5717G>T	c.(5716-5718)AGG>ATG	p.R1906M	ARID1B_uc003qqo.2_Missense_Mutation_p.R1866M|ARID1B_uc003qqp.2_Missense_Mutation_p.R1853M	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1911					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACGAGCCCAGGAGCCGAGAC	0.557													T	157528046	G	T	157528046	3	4	279	1	0	0	0	0	1	0	0	0	914	1000	35	5	5849	5	ARID1B	6	157528046	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	25836	157528046	13587021	380	143373											
T	6862	broad.mit.edu	37	chr6	166580164	166580164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggccccgaagttgggCgagtcggggtggatgtagac	19	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr6:166580164C>T	uc003quu.1	-	3	880	c.387G>A	c.(385-387)TCG>TCA	p.S129S	T_uc003qut.1_Silent_p.S129S|T_uc003quv.1_Silent_p.S129S	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	129	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		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)		CGAAGTTGGGCGAGTCGGGGT	0.657									Chordoma_Familial_Clustering_of				T	166580164	C	T	166580164	2	4	279	1	0	0	0	0	0	0	0	1	15485	755	27	1		1	T	6	166580164	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	9052118	166580164	4534903	381	143374											
SDK1	221935	broad.mit.edu	37	chr7	4273010	4273010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggctgtgaatgaggCgggctacggggagcccagca	20	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:4273010C>T	uc003smx.2	+	41	6090	c.5951C>T	c.(5950-5952)GCG>GTG	p.A1984V	SDK1_uc010kso.2_Missense_Mutation_p.A1240V|SDK1_uc003smy.2_Missense_Mutation_p.A471V|SDK1_uc003smz.2_Missense_Mutation_p.A44V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1984	Fibronectin type-III 13.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GTGAATGAGGCGGGCTACGGG	0.622													T	4273010	C	T	4273010	3	4	279	1	0	0	0	0	1	0	0	0	13968	768	27	1	6113	1	SDK1	7	4273010	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08		4273010	154865653	382	143375											
RBAK	57786	broad.mit.edu	37	chr7	5105012	5105012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaacctcactgtccactAcagaagccattcaggagaga	8	12	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:5105012A>G	uc010kss.1	+	6	2249	c.1925A>G	c.(1924-1926)TAC>TGC	p.Y642C	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.Y642C	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	642	C2H2-type 14.|Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACTGTCCACTACAGAAGCCAT	0.393													G	5105012	A	G	5105012	3	3	279	1	0	0	0	0	1	0	0	0	13100	391	14	3	1939	3	RBAK	7	5105012	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	832002	5105012	154033651	383	143376											
PHF14	9678	broad.mit.edu	37	chr7	11091407	11091407	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagattccgataagaaacacGgtagtttattttttatttat	6	4	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:11091407G>T	uc003sry.1	+	14	2916	c.2481G>T	c.(2479-2481)ACG>ACT	p.T827T	PHF14_uc011jxi.1_Silent_p.T542T|PHF14_uc003srz.2_Silent_p.T827T|PHF14_uc011jxj.1_Silent_p.T542T	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	827							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAAGAAACACGGTAGTTTATT	0.388													T	11091407	G	T	11091407	2	4	279	1	0	0	0	0	0	0	0	1	11825	1130	39	5		5	PHF14	7	11091407	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5986395	11091407	148047256	384	143377											
DGKB	1607	broad.mit.edu	37	chr7	14775710	14775710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttaccattggactagaaTgaggaaacttgttgctaaat	8	5	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:14775710T>C	uc003ssz.2	-	4	465	c.278A>G	c.(277-279)CAT>CGT	p.H93R	DGKB_uc011jxt.1_Missense_Mutation_p.H86R|DGKB_uc003sta.2_Missense_Mutation_p.H93R|DGKB_uc011jxu.1_Missense_Mutation_p.H93R|DGKB_uc011jxv.1_Missense_Mutation_p.H93R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	93					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			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TGGACTAGAATGAGGAAACTT	0.353													C	14775710	T	C	14775710	3	2	279	1	0	0	0	0	1	0	0	0	4466	1464	51	3	2239	3	DGKB	7	14775710	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3684303	14775710	144362953	385	143378											
FAM126A	84668	broad.mit.edu	37	chr7	22985387	22985387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagatgacgggttatgtgGgactgtgacaccactgactt	13	8	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:22985387G>T	uc003svm.3	-	11	1642	c.1387C>A	c.(1387-1389)CCA>ACA	p.P463T	FAM126A_uc003svn.3_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	463						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						GGGTTATGTGGGACTGTGACA	0.468													T	22985387	G	T	22985387	3	4	279	1	0	0	0	0	1	0	0	0	5429	1232	43	5	182	5	FAM126A	7	22985387	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8209677	22985387	136153276	386	143379											
C7orf31	136895	broad.mit.edu	37	chr7	25194757	25194757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggggaacatggcgccGcgacagatgtgtgtgtggta	18	6	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:25194757G>A	uc003sxn.1	-	6	1029	c.468C>T	c.(466-468)CGC>CGT	p.R156R	C7orf31_uc003sxm.1_5'UTR	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	156											0						ACATGGCGCCGCGACAGATGT	0.502													A	25194757	G	A	25194757	2	1	279	1	0	0	0	0	0	0	0	1	2387	1074	38	1		1	C7orf31	7	25194757	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2209370	25194757	133943906	387	143380											
GHRHR	2692	broad.mit.edu	37	chr7	31014105	31014105	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccttcgaggacatcgcGtgagtcggagcggccacctt	14	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:31014105G>A	uc003tbx.2	+	8	860	c.812_splice	c.e8+1	p.A271_splice	GHRHR_uc003tbw.1_Splice_Site_p.A271_splice|GHRHR_uc003tby.2_Splice_Site_p.A207_splice|GHRHR_uc003tbz.2_Splice_Site_p.R37_splice	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						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			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	AGGACATCGCGTGAGTCGGAG	0.617													A	31014105	G	A	31014105	5	1	279	1	0	0	0	0	0	0	1	0	6373	1159	40	1	843	1	GHRHR	7	31014105	Splice_Site	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5819348	31014105	128124558	388	143381											
FKBP9	11328	broad.mit.edu	37	chr7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-													taatttctagctggtgtgatCccccccaattcagtgcttca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:33014804delC	uc003tdh.2	+	3	559	c.378delC	c.(376-378)ATCfs	p.I126fs	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Frame_Shift_Del_p.I179fs|FKBP9_uc003tdg.2_Frame_Shift_Del_p.I126fs|FKBP9_uc010kwm.2_Frame_Shift_Del_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443													-	33014804	C	-	33014804	7	5	279	1	0	1	0	1	0	0	0	0	5915	845	30	0	388	0	FKBP9	7	33014804	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	2000699	33014804	126123859	389	143382											
NT5C3	51251	broad.mit.edu	37	chr7	33055402	33055402	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctattgtcttttagttgattGaaatattctgtattcctcaa	5	6	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:33055402G>A	uc003tdk.2	-	8	866	c.789C>T	c.(787-789)TTC>TTT	p.F263F	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.F224F|NT5C3_uc003tdj.2_Silent_p.F224F	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	263					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			TTAGTTGATTGAAATATTCTG	0.353													A	33055402	G	A	33055402	2	1	279	1	0	0	0	0	0	0	0	1	10688	1281	45	4		4	NT5C3	7	33055402	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	40598	33055402	126083261	390	143383											
BBS9	27241	broad.mit.edu	37	chr7	33545232	33545232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagcggcatttctgcCgctacaagaagacactcaag	10	11	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:33545232C>T	uc003tdn.1	+	20	2786	c.2273C>T	c.(2272-2274)CCG>CTG	p.P758L	BBS9_uc003tdo.1_Missense_Mutation_p.P723L|BBS9_uc003tdp.1_Missense_Mutation_p.P753L|BBS9_uc003tdq.1_Missense_Mutation_p.P718L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.P282L|BBS9_uc003tds.1_Missense_Mutation_p.P181L|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	758					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GCATTTCTGCCGCTACAAGAA	0.498									Bardet-Biedl_syndrome				T	33545232	C	T	33545232	3	4	279	1	0	0	0	0	1	0	0	0	1342	652	23	1	2347	1	BBS9	7	33545232	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	489830	33545232	125593431	391	143384											
EEPD1	80820	broad.mit.edu	37	chr7	36194050	36194050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctagtgaatcaggagcgGctcaacatcaacactgccac	8	12	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:36194050G>A	uc003tfa.2	+	2	757	c.117G>A	c.(115-117)CGG>CGA	p.R39R		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	39	HhH.				DNA repair		DNA binding				0						ATCAGGAGCGGCTCAACATCA	0.607													A	36194050	G	A	36194050	2	1	279	1	0	0	0	0	0	0	0	1	4932	1190	42	2		2	EEPD1	7	36194050	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2648818	36194050	122944613	392	143385											
AMPH	273	broad.mit.edu	37	chr7	38433753	38433753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcttcctctcctgggGccccctcagctgctgacacc	8	20	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:38433753G>A	uc003tgu.2	-	18	1529	c.1460C>T	c.(1459-1461)GCC>GTC	p.A487V	AMPH_uc003tgv.2_Missense_Mutation_p.A445V|AMPH_uc003tgt.2_Missense_Mutation_p.A372V|AMPH_uc003tgw.1_Missense_Mutation_p.A510V|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	487					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CTCTCCTGGGGCCCCCTCAGC	0.577													A	38433753	G	A	38433753	3	1	279	1	0	0	0	0	1	0	0	0	588	1203	42	2	643	2	AMPH	7	38433753	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2239703	38433753	120704910	393	143386											
GLI3	2737	broad.mit.edu	37	chr7	42116409	42116409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggccctcatgatgtctggCatcaattggtacaggaggat	12	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:42116409C>T	uc011kbh.1	-	4	506	c.415G>A	c.(415-417)GCC>ACC	p.A139T	GLI3_uc011kbg.1_Missense_Mutation_p.A80T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	139					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGATGTCTGGCATCAATTGGT	0.413									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				T	42116409	C	T	42116409	3	4	279	1	0	0	0	0	1	0	0	0	6439	710	25	2	4375	2	GLI3	7	42116409	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3682656	42116409	117022254	394	143387											
NUDCD3	23386	broad.mit.edu	37	chr7	44425629	44425629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaaaactgcacagcccccGgggagatgttgaacatggca	11	10	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:44425629G>A	uc003tkz.2	-	6	1253	c.1067C>T	c.(1066-1068)CCG>CTG	p.P356L	NUDCD3_uc010kye.2_RNA	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	356											0						CACAGCCCCCGGGGAGATGTT	0.562													A	44425629	G	A	44425629	3	1	279	1	0	0	0	0	1	0	0	0	10724	1116	39	1	22	1	NUDCD3	7	44425629	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2309220	44425629	114713034	395	143388											
NPC1L1	29881	broad.mit.edu	37	chr7	44576448	44576448	+	Frame_Shift_Del	DEL	C	C	-													ccacttagcttacctttgtaCcccccaatggcaaggaaggg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:44576448delC	uc003tlb.2	-	3	1730	c.1674delG	c.(1672-1674)GGGfs	p.G558fs	NPC1L1_uc003tlc.2_Frame_Shift_Del_p.G558fs|NPC1L1_uc011kbw.1_Frame_Shift_Del_p.G558fs|NPC1L1_uc003tld.2_Frame_Shift_Del_p.G558fs	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	558	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TACCTTTGTACCCCCCAATGG	0.602													-	44576448	C	-	44576448	7	5	279	1	0	1	0	1	0	0	0	0	10571	494	18	0	2477	0	NPC1L1	7	44576448	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	150819	44576448	114562215	396	143389											
MYO1G	64005	broad.mit.edu	37	chr7	45015133	45015133	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgatcgggtcccccttgaAgtcaaagttgatgtccatgt	10	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:45015133A>C	uc003tmh.2	-	4	658	c.514T>G	c.(514-516)TTC>GTC	p.F172V	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.F57V|MYO1G_uc003tmi.1_Missense_Mutation_p.F84V|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	172	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						TCCCCCTTGAAGTCAAAGTTG	0.597													C	45015133	A	C	45015133	3	2	279	1	0	0	0	0	1	0	0	0	10074	72	3	5	2618	5	MYO1G	7	45015133	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	438685	45015133	114123530	397	143390											
TNS3	64759	broad.mit.edu	37	chr7	47344520	47344520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgaggacgcatcagccCggagcatcgtggatttgggt	16	10	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:47344520C>T	uc003tnv.2	-	21	3099	c.2732G>A	c.(2731-2733)CGG>CAG	p.R911Q	TNS3_uc003tnw.2_Missense_Mutation_p.R911Q	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	911						focal adhesion	protein binding			ovary(4)	4						CGCATCAGCCCGGAGCATCGT	0.587													T	47344520	C	T	47344520	3	4	279	1	0	0	0	0	1	0	0	0	16341	652	23	1	1649	1	TNS3	7	47344520	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2329387	47344520	111794143	398	143391											
PKD1L1	168507	broad.mit.edu	37	chr7	47944770	47944770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccattgggggatgctgaGtctttttttaatgcttcttg	11	6	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:47944770G>A	uc003tny.1	-	11	1675	c.1675C>T	c.(1675-1677)CTC>TTC	p.L559F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	559	Extracellular (Potential).|PKD 1.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGGATGCTGAGTCTTTTTTTA	0.443													A	47944770	G	A	47944770	3	1	279	1	0	0	0	0	1	0	0	0	11964	1029	36	4	7062	4	PKD1L1	7	47944770	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	600250	47944770	111193893	399	143392											
ABCA13	154664	broad.mit.edu	37	chr7	48313025	48313025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttaacttggagcaagtggaGaaatcccttttcaccatgga	9	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:48313025G>T	uc003toq.2	+	17	3787	c.3762G>T	c.(3760-3762)GAG>GAT	p.E1254D	ABCA13_uc010kyr.2_Missense_Mutation_p.E757D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1254					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGCAAGTGGAGAAATCCCTTT	0.388													T	48313025	G	T	48313025	3	4	279	1	0	0	0	0	1	0	0	0	31	933	33	5	3657	5	ABCA13	7	48313025	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	368255	48313025	110825638	400	143393											
ABCA13	154664	broad.mit.edu	37	chr7	48335320	48335320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaaaagatatggtcctcGccgaatcagctaaattgtga	9	7	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:48335320G>A	uc003toq.2	+	21	9004	c.8979G>A	c.(8977-8979)TCG>TCA	p.S2993S	ABCA13_uc010kys.1_Silent_p.S67S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2993					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TATGGTCCTCGCCGAATCAGC	0.388													A	48335320	G	A	48335320	2	1	279	1	0	0	0	0	0	0	0	1	31	1074	38	1		1	ABCA13	7	48335320	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	22295	48335320	110803343	401	143394											
ABCA13	154664	broad.mit.edu	37	chr7	48654889	48654890	+	Frame_Shift_Ins	INS	-	-	GT													cttctttacagcatggaggaINSgtgtgaggctctttgcacaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:48654889_48654890insGT	uc003toq.2	+	59	14778_14779	c.14753_14754insGT	c.(14752-14754)GAGfs	p.E4918fs	ABCA13_uc010kys.1_Frame_Shift_Ins_p.E1993fs|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Frame_Shift_Ins_p.E648fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4918	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AGCATGGAGGAGTGTGAGGCTC	0.436													GT	48654890	-	GT	48654889	7	5	279	1	0	1	1	0	0	0	0	0	31	304	11	0	14816	0	ABCA13	7	48654889	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	319569	48654889	110483774	402	143395											
TRIM50	135892	broad.mit.edu	37	chr7	72732951	72732951	+	Frame_Shift_Del	DEL	C	C	-													ccaccaggccacgggtgtgaCcccctatcccctccaggcag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:72732950_72732950AC>A	uc003txy.1	-	3	798	c.597_597GT>T	c.(595-597)ggtfs	p.G199fs	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Frame_Shift_Del_p.G199fs|TRIM50_uc003txz.1_Frame_Shift_Del_p.G199fs	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	199						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CACGGGTGTGACCCCCTATCC	0.662													-	72732951	C	-	72732951	7	5	279	1	0	1	0	1	0	0	0	0	16523	507	18	0	883	0	TRIM50	7	72732951	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	24078062	72732951	86405712	403	143396											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74005272	74005272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttccggaaccccaacacGtacgacatccaccggctgga	8	18	0	0	rs113892752		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:74005272G>A	uc003uaq.2	+	24	2955	c.2562G>A	c.(2560-2562)ACG>ACA	p.T854T	GTF2IRD1_uc010lbq.2_Silent_p.T871T|GTF2IRD1_uc003uap.2_Silent_p.T839T|GTF2IRD1_uc003uar.1_Silent_p.T839T	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	854	GTF2I-like 5.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						ACCCCAACACGTACGACATCC	0.612													A	74005272	G	A	74005272	2	1	279	1	0	0	0	0	0	0	0	1	6868	1132	40	1		1	GTF2IRD1	7	74005272	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1272321	74005272	85133391	404	143397											
HIP1	3092	broad.mit.edu	37	chr7	75189089	75189089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtgtcctcccgctgcctcCtgagctcgtccagttctgcc	10	18	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:75189089C>A	uc003uds.1	-	14	1363	c.1322G>T	c.(1321-1323)AGG>ATG	p.R441M	HIP1_uc011kfz.1_Missense_Mutation_p.R318M	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	441	Potential.|pDED.				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			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CCGCTGCCTCCTGAGCTCGTC	0.493			T	PDGFRB	CMML								A	75189089	C	A	75189089	3	1	279	1	0	0	0	0	1	0	0	0	7114	681	24	5	1863	5	HIP1	7	75189089	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1183817	75189089	83949574	405	143398											
SEMA3A	10371	broad.mit.edu	37	chr7	83823851	83823851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctgatagtttgctcttgCtgtaagtaatactccccaga	7	9	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:83823851C>T	uc003uhz.2	-	1	367	c.52G>A	c.(52-54)GCA>ACA	p.A18T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	18					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTTGCTCTTGCTGTAAGTAAT	0.393													T	83823851	C	T	83823851	3	4	279	1	0	0	0	0	1	0	0	0	14024	797	28	2	2331	2	SEMA3A	7	83823851	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8634762	83823851	75314812	406	143399											
DBF4	10926	broad.mit.edu	37	chr7	87507389	87507389	+	Frame_Shift_Del	DEL	A	A	-													tggaatccaagtcaaaaatgAaaaaaacagaccatctctga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:87507389delA	uc003ujf.1	+	2	572	c.68delA	c.(67-69)GAAfs	p.E23fs	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	23					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			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTCAAAAATGAAAAAAACAGA	0.299													-	87507389	A	-	87507389	7	5	279	1	0	1	0	1	0	0	0	0	4248	246	9	0	74	0	DBF4	7	87507389	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	3683538	87507389	71631274	407	143400											
CLDN12	9069	broad.mit.edu	37	chr7	90042232	90042232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactcatcagttgaccagcTggacctgcgtgtcctccagt	10	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:90042232T>C	uc003ukp.2	+	5	878	c.242T>C	c.(241-243)CTG>CCG	p.L81P	CLDN12_uc003ukq.2_Missense_Mutation_p.L81P|CLDN12_uc010leq.2_Missense_Mutation_p.L81P|CLDN12_uc003ukr.2_Missense_Mutation_p.L81P|CLDN12_uc003uks.2_Missense_Mutation_p.L81P	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	81	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GTTGACCAGCTGGACCTGCGT	0.562													C	90042232	T	C	90042232	3	2	279	1	0	0	0	0	1	0	0	0	3474	1580	55	3	244	3	CLDN12	7	90042232	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2534843	90042232	69096431	408	143401											
CASD1	64921	broad.mit.edu	37	chr7	94163028	94163028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggtagcagtgaagcgcTttctcaatataaaatgaaca	8	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:94163028T>C	uc003uni.3	+	7	769	c.542T>C	c.(541-543)CTT>CCT	p.L181P	CASD1_uc003unh.2_Missense_Mutation_p.L181P|CASD1_uc003unj.3_Missense_Mutation_p.L181P	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	181						integral to membrane				ovary(2)	2	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)			AGTGAAGCGCTTTCTCAATAT	0.313													C	94163028	T	C	94163028	3	2	279	1	0	0	0	0	1	0	0	0	2664	1609	56	3	568	3	CASD1	7	94163028	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	4120796	94163028	64975635	409	143402											
LMTK2	22853	broad.mit.edu	37	chr7	97821424	97821424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaacctttctgttggaagCgactattatatccagttaga	7	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:97821424C>T	uc003upd.1	+	11	1940	c.1647C>T	c.(1645-1647)AGC>AGT	p.S549S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	549					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			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	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)					CTGTTGGAAGCGACTATTATA	0.502													T	97821424	C	T	97821424	2	4	279	1	0	0	0	0	0	0	0	1	8859	767	27	1		1	LMTK2	7	97821424	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3658396	97821424	61317239	410	143403											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97984432	97984432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtaggcttttcctgccaGgatcatagctagacacaaaa	9	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:97984432G>A	uc003upj.2	-	3	399	c.136C>T	c.(136-138)CTG>TTG	p.L46L		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	46	IMD.				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			ovary(1)	1	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)			TTTCCTGCCAGGATCATAGCT	0.498													A	97984432	G	A	97984432	2	1	279	1	0	0	0	0	0	0	0	1	1302	991	35	4		4	BAIAP2L1	7	97984432	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	163008	97984432	61154231	411	143404											
CYP3A7	1551	broad.mit.edu	37	chr7	99308406	99308406	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcactttctgctggacatcAgggtgagtggccagttcata	12	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:99308406A>G	uc003uru.2	-	10	1080	c.975T>C	c.(973-975)CCT>CCC	p.P325P	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	325					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GCTGGACATCAGGGTGAGTGG	0.443													G	99308406	A	G	99308406	2	3	279	1	0	0	0	0	0	0	0	1	4181	175	7	3		3	CYP3A7	7	99308406	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1323974	99308406	59830257	412	143405											
MCM7	4176	broad.mit.edu	37	chr7	99695354	99695354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattgaagctgccagcttttCgtagaaatcctcctctgtag	9	10	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:99695354C>T	uc003usw.1	-	9	1510	c.1000G>A	c.(1000-1002)GAA>AAA	p.E334K	MCM7_uc003usv.1_Missense_Mutation_p.E158K|MCM7_uc003usx.1_Missense_Mutation_p.E158K	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	334	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				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCCAGCTTTTCGTAGAAATCC	0.507													T	99695354	C	T	99695354	3	4	279	1	0	0	0	0	1	0	0	0	9392	893	31	1	1187	1	MCM7	7	99695354	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	386948	99695354	59443309	413	143406											
TAF6	6878	broad.mit.edu	37	chr7	99706053	99706053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcagcctgggcccgagcCttgaccacctgggagcagag	15	13	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:99706053C>T	uc003uti.2	-	13	1476	c.1395G>A	c.(1393-1395)AAG>AAA	p.K465K	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Silent_p.K387K|TAF6_uc003uth.2_Silent_p.K522K|TAF6_uc003utk.2_Silent_p.K465K|TAF6_uc011kji.1_Silent_p.K502K|TAF6_uc003utj.2_Silent_p.K455K|TAF6_uc003utl.2_Silent_p.K465K|TAF6_uc003utm.2_Silent_p.K465K	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	465					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 TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCCCGAGCCTTGACCACCT	0.647													T	99706053	C	T	99706053	2	4	279	1	0	0	0	0	0	0	0	1	15527	680	24	4		4	TAF6	7	99706053	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	10699	99706053	59432610	414	143407											
TSC22D4	81628	broad.mit.edu	37	chr7	100064709	100064709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccagcgcagcgttcCgctccgccaattcccggatc	9	19	0	0	rs143908452		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100064709C>T	uc003uva.2	-	5	1816	c.1061G>A	c.(1060-1062)CGG>CAG	p.R354Q	C7orf61_uc003uuz.1_5'Flank|TSC22D4_uc003uvb.2_Missense_Mutation_p.R115Q|TSC22D4_uc011kjv.1_Missense_Mutation_p.R115Q|TSC22D4_uc010lgx.2_Missense_Mutation_p.R354Q	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCAGCGTTCCGCTCCGCCAA	0.697													T	100064709	C	T	100064709	3	4	279	1	0	0	0	0	1	0	0	0	16607	652	23	1	130	1	TSC22D4	7	100064709	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	358656	100064709	59073954	415	143408											
PCOLCE	5118	broad.mit.edu	37	chr7	100201580	100201580	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctctgtccccgctatcAggtccccgagggccagactg	11	18	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100201580A>G	uc003uvo.2	+	3	403	c.205_splice	c.e3-2	p.V69_splice	uc011kjy.1_RNA|PCOLCE_uc011kkb.1_Splice_Site_p.V69_splice|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer						multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGCTATCAGGTCCCCGAG	0.647													G	100201580	A	G	100201580	5	3	279	1	0	0	0	0	0	0	1	0	11594	202	7	3	213	3	PCOLCE	7	100201580	Splice_Site	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	136871	100201580	58937083	416	143409											
ZAN	7455	broad.mit.edu	37	chr7	100369603	100369603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacgcgtccctgtgtgcccaGgctggccaggcccctgcctg	13	17	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100369603G>T	uc003uwj.2	+	29	5550	c.5385G>T	c.(5383-5385)CAG>CAT	p.Q1795H	ZAN_uc003uwk.2_Missense_Mutation_p.Q1795H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.Q372H|ZAN_uc011kke.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1795	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTGTGCCCAGGCTGGCCAGG	0.652													T	100369603	G	T	100369603	3	4	279	1	0	0	0	0	1	0	0	0	17510	991	35	5	5495	5	ZAN	7	100369603	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	168023	100369603	58769060	417	143410											
ACHE	43	broad.mit.edu	37	chr7	100489954	100489954	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccctctgcactgctgaCcctgtgcgggcaaagttggc	11	15	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100489954C>T	uc003uxd.2	-	2	1709	c.1553_splice	c.e2+1	p.G518_splice	UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Splice_Site_p.G518_splice|ACHE_uc003uxf.2_Splice_Site_p.G518_splice|ACHE_uc003uxg.2_Splice_Site_p.G518_splice|ACHE_uc003uxh.2_Splice_Site_p.G430_splice|ACHE_uc003uxi.2_Splice_Site_p.G518_splice	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor						acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCACTGCTGACCCTGTGCGGG	0.607													T	100489954	C	T	100489954	5	4	279	1	0	0	0	0	0	0	1	0	141	521	18	4	437	4	ACHE	7	100489954	Splice_Site	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	120351	100489954	58648709	418	143411											
MUC17	140453	broad.mit.edu	37	chr7	100682687	100682687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgacaccaggacacttGtgaccacttccactggaacc	8	14	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100682687G>A	uc003uxp.1	+	3	8043	c.7990G>A	c.(7990-7992)GTG>ATG	p.V2664M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2664	Extracellular (Potential).|43.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGGACACTTGTGACCACTTC	0.463													A	100682687	G	A	100682687	3	1	279	1	0	0	0	0	1	0	0	0	9974	1377	48	4	8000	4	MUC17	7	100682687	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	192733	100682687	58455976	419	143412											
PLOD3	8985	broad.mit.edu	37	chr7	100853686	100853686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggaagtggccaggagccGgccaaattcatgctgattgc	13	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:100853686G>A	uc003uyd.2	-	14	1996	c.1540C>T	c.(1540-1542)CGG>TGG	p.R514W	PLOD3_uc010lhs.2_Missense_Mutation_p.R79W	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	514					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCAGGAGCCGGCCAAATTCA	0.637													A	100853686	G	A	100853686	3	1	279	1	0	0	0	0	1	0	0	0	12103	1115	39	1	700	1	PLOD3	7	100853686	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	170999	100853686	58284977	420	143413											
LHFPL3	375612	broad.mit.edu	37	chr7	103969672	103969672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatgcagctcacctccGgtgagtgcgcgctcacctcc	11	17	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:103969672G>A	uc003vce.2	+	1	569	c.445G>A	c.(445-447)GCT>ACT	p.A149T	LHFPL3_uc003vcf.2_Missense_Mutation_p.A149T	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	135	Helical; (Potential).					integral to membrane					0						GCTCACCTCCGGTGAGTGCGC	0.647													A	103969672	G	A	103969672	3	1	279	1	0	0	0	0	1	0	0	0	8766	1130	39	1	447	1	LHFPL3	7	103969672	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3115986	103969672	55168991	421	143414											
SRPK2	6733	broad.mit.edu	37	chr7	104773469	104773469	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacccaacaagcatttccCaggtcagcaatttttactct	4	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:104773469C>A	uc003vct.2	-	11	1780	c.1593G>T	c.(1591-1593)CTG>CTT	p.L531L	SRPK2_uc003vcu.2_Silent_p.L531L|SRPK2_uc003vcv.2_Silent_p.L542L|SRPK2_uc003vcw.1_Silent_p.L531L|SRPK2_uc003vcs.1_5'Flank	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	531	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						AAGCATTTCCCAGGTCAGCAA	0.453													A	104773469	C	A	104773469	2	1	279	1	0	0	0	0	0	0	0	1	15159	581	21	5		5	SRPK2	7	104773469	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	803797	104773469	54365194	422	143415											
C7orf60	154743	broad.mit.edu	37	chr7	112462111	112462111	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgagtacttgaagcgtttAaagcccagggactctatagc	10	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:112462111A>T	uc003vgo.1	-	5	1033	c.906T>A	c.(904-906)TTT>TTA	p.F302L	C7orf60_uc011kms.1_Missense_Mutation_p.F328L	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	302										ovary(2)|skin(1)	3						TGAAGCGTTTAAAGCCCAGGG	0.388													T	112462111	A	T	112462111	3	4	279	1	0	0	0	0	1	0	0	0	2407	359	13	5	315	5	C7orf60	7	112462111	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	7688642	112462111	46676552	423	143416											
MET	4233	broad.mit.edu	37	chr7	116381017	116381017	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccacgacaaatgtgtgCgatcggaggaatgcctgagc	15	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:116381017C>T	uc003vij.2	+	5	1826	c.1639C>T	c.(1639-1641)CGA>TGA	p.R547*	MET_uc010lkh.2_Nonsense_Mutation_p.R547*|MET_uc011knc.1_Nonsense_Mutation_p.R547*|MET_uc011knd.1_Nonsense_Mutation_p.R547*|MET_uc011kne.1_Nonsense_Mutation_p.R519*|MET_uc011knf.1_Nonsense_Mutation_p.R547*|MET_uc011kng.1_Nonsense_Mutation_p.R547*|MET_uc011knh.1_Nonsense_Mutation_p.R547*|MET_uc011kni.1_Nonsense_Mutation_p.R547*|MET_uc011knj.1_Nonsense_Mutation_p.R117*|MET_uc011knb.1_Nonsense_Mutation_p.R547*	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	547	Extracellular (Potential).				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	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)			CAAATGTGTGCGATCGGAGGA	0.507			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				T	116381017	C	T	116381017	4	4	279	1	0	0	0	0	0	1	0	0	9485	760	27	1	1653	1	MET	7	116381017	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3918906	116381017	42757646	424	143417											
TSPAN12	23554	broad.mit.edu	37	chr7	120428948	120428948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaatacattttcttcccacAaccctgtaaaagaaatacat	4	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:120428948A>C	uc003vjk.2	-	8	990	c.616T>G	c.(616-618)TGT>GGT	p.C206G	TSPAN12_uc010lkj.2_Missense_Mutation_p.C79G	NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	206	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					TTCTTCCCACAACCCTGTAAA	0.378													C	120428948	A	C	120428948	3	2	279	1	0	0	0	0	1	0	0	0	16633	130	5	5	305	5	TSPAN12	7	120428948	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	4047931	120428948	38709715	425	143418											
TSPAN12	23554	broad.mit.edu	37	chr7	120455798	120455798	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccataagttcctgttcAtatgtccaaacgccacaagc	5	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:120455798A>G	uc003vjk.2	-	5	719	c.345T>C	c.(343-345)TAT>TAC	p.Y115Y		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	115	Extracellular (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					GTTCCTGTTCATATGTCCAAA	0.294													G	120455798	A	G	120455798	2	3	279	1	0	0	0	0	0	0	0	1	16633	224	8	3		3	TSPAN12	7	120455798	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	26850	120455798	38682865	426	143419											
IQUB	154865	broad.mit.edu	37	chr7	123119935	123119935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagcaattatctgagTctctttttccagaagttcac	7	8	3	2	rs111558568		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:123119935T>C	uc003vkn.2	-	8	1901	c.1324A>G	c.(1324-1326)ACT>GCT	p.T442A	IQUB_uc003vko.2_Missense_Mutation_p.T442A|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Missense_Mutation_p.T442A	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	442										ovary(3)|large_intestine(1)	4						ATTATCTGAGTCTCTTTTTCC	0.398													C	123119935	T	C	123119935	3	2	279	1	0	0	0	0	1	0	0	0	7820	1667	58	3	1075	3	IQUB	7	123119935	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2664137	123119935	36018728	427	143420											
FLNC	2318	broad.mit.edu	37	chr7	128470736	128470736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccggcctcggcctgggCgatgagacagacgagatgcc	16	13	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:128470736C>T	uc003vnz.3	+	1	254	c.45C>T	c.(43-45)GGC>GGT	p.G15G	FLNC_uc003voa.3_Silent_p.G15G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	15	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGGCCTGGGCGATGAGACAG	0.468													T	128470736	C	T	128470736	2	4	279	1	0	0	0	0	0	0	0	1	5935	755	27	1		1	FLNC	7	128470736	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	5350801	128470736	30667927	428	143421											
FLNC	2318	broad.mit.edu	37	chr7	128493858	128493858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttccatcgccaccatcGgcagcacctgtgacctcaac	6	19	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:128493858G>A	uc003vnz.3	+	39	6660	c.6451G>A	c.(6451-6453)GGC>AGC	p.G2151S	FLNC_uc003voa.3_Missense_Mutation_p.G2118S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2151					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CGCCACCATCGGCAGCACCTG	0.667													A	128493858	G	A	128493858	3	1	279	1	0	0	0	0	1	0	0	0	5935	1116	39	1	6605	1	FLNC	7	128493858	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	23122	128493858	30644805	429	143422											
MGAM	8972	broad.mit.edu	37	chr7	141750592	141750592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgggacggaggaacctagCaatgttacagtgaaacacaa	11	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:141750592C>A	uc003vwy.2	+	24	2787	c.2733C>A	c.(2731-2733)AGC>AGA	p.S911R		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	911	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGAACCTAGCAATGTTACAG	0.398													A	141750592	C	A	141750592	3	1	279	1	0	0	0	0	1	0	0	0	9541	709	25	5	2823	5	MGAM	7	141750592	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	13256734	141750592	17388071	430	143423											
EPHB6	2051	broad.mit.edu	37	chr7	142562398	142562398	+	Frame_Shift_Del	DEL	C	C	-													gggggccaggcaggaggcagCccccccaggctgcactgcaa					rs145544148		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:142562397_142562397GC>G	uc011kst.2	+	6	1626	c.839_839GC>G	c.(838-840)agcfs	p.S280fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.S280fs|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	280	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V279V(1)		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)					GCAGGAGGCAGCCCCCCCAGG	0.692													-	142562398	C	-	142562398	7	5	279	1	0	1	0	1	0	0	0	0	5178	738	26	0	850	0	EPHB6	7	142562398	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	811806	142562398	16576265	431	143424											
OR2A5	393046	broad.mit.edu	37	chr7	143748314	143748314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggagcagcagaaggtcCtttccctgttttacagcctt	10	11	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:143748314C>A	uc011ktw.1	+	1	820	c.820C>A	c.(820-822)CTT>ATT	p.L274I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					GCAGAAGGTCCTTTCCCTGTT	0.547													A	143748314	C	A	143748314	3	1	279	1	0	0	0	0	1	0	0	0	10981	681	24	5	822	5	OR2A5	7	143748314	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1185916	143748314	15390349	432	143425											
ZNF467	168544	broad.mit.edu	37	chr7	149461869	149461869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggccgcaagggcggcGtccggggccgcgtgggcggc	23	13	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:149461869G>A	uc003wgd.2	-	5	1863	c.1722C>T	c.(1720-1722)GAC>GAT	p.D574D	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAAGGGCGGCGTCCGGGGCCG	0.701													A	149461869	G	A	149461869	2	1	279	1	0	0	0	0	0	0	0	1	17924	1136	40	1		1	ZNF467	7	149461869	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5713555	149461869	9676794	433	143426											
ZNF862	643641	broad.mit.edu	37	chr7	149558562	149558562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgagctgcaggaaggtgcGgcgcctctggagcaggagat	17	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:149558562G>T	uc010lpn.2	+	7	2505	c.2313G>T	c.(2311-2313)GCG>GCT	p.A771A	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						AGGAAGGTGCGGCGCCTCTGG	0.607													T	149558562	G	T	149558562	2	4	279	1	0	0	0	0	0	0	0	1	18192	1103	39	5		5	ZNF862	7	149558562	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	96693	149558562	9580101	434	143427											
ZNF775	285971	broad.mit.edu	37	chr7	150094403	150094403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggggccgggcgagccGcgccagttcatctgcaacga	15	15	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:150094403G>A	uc003whf.1	+	3	959	c.834G>A	c.(832-834)CCG>CCA	p.P278P		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgggcgagccgcgccAGTTCA	0.438													A	150094403	G	A	150094403	2	1	279	1	0	0	0	0	0	0	0	1	18145	1074	38	1		1	ZNF775	7	150094403	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	535841	150094403	9044260	435	143428											
NOS3	4846	broad.mit.edu	37	chr7	150698398	150698399	+	Frame_Shift_Ins	INS	-	-	G													gagaatgagcagaaggccagINSggggggctgccctgcagact							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:150698397_150698398A>AG	uc003wif.3	+	10	1608_1609	c.1312_1313A>AG	c.(1312-1314)aggfs	p.R438fs	NOS3_uc011kuy.2_Frame_Shift_Ins_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Ins_p.R438fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	438	Interaction with NOSIP.				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	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme 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)	GCAGAAGGCCAGGGGGGGCTGC	0.614													G	150698399	-	G	150698398	7	5	279	1	0	1	1	0	0	0	0	0	10544	1000	35	0	1351	0	NOS3	7	150698398	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	603995	150698398	8440265	436	143429											
ATG9B	285973	broad.mit.edu	37	chr7	150720577	150720577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcaggcaaagccattcCgctggtggtagctgtagatg	14	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:150720577C>T	uc011kvc.1	-	3	690	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	205	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGCCATTCCGCTGGTGGTA	0.632													T	150720577	C	T	150720577	3	4	279	1	0	0	0	0	1	0	0	0	1103	652	23	1	2203	1	ATG9B	7	150720577	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	22179	150720577	8418086	437	143430											
MLL3	58508	broad.mit.edu	37	chr7	151879153	151879153	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttgaaggggcctagataccGatgataaaggtgtacagttt	12	5	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:151879153G>T	uc003wla.2	-	36	6011	c.5792C>A	c.(5791-5793)TCG>TAG	p.S1931*	MLL3_uc003wkz.2_Nonsense_Mutation_p.S992*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1931	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTAGATACCGATGATAAAGG	0.448			N		medulloblastoma								T	151879153	G	T	151879153	4	4	279	1	0	0	0	0	0	1	0	0	9622	1059	37	5	9039	5	MLL3	7	151879153	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1158576	151879153	7259510	438	143431											
WDR60	55112	broad.mit.edu	37	chr7	158716414	158716414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgttccggaccgccacGttttccaccggtcagtgtca	11	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr7:158716414G>A	uc003woe.3	+	17	2405	c.2247G>A	c.(2245-2247)ACG>ACA	p.T749T	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.T381T	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	749										ovary(2)|breast(1)|central_nervous_system(1)	4	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)		GGACCGCCACGTTTTCCACCG	0.502													A	158716414	G	A	158716414	2	1	279	1	0	0	0	0	0	0	0	1	17308	1132	40	1		1	WDR60	7	158716414	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6837261	158716414	422249	439	143432											
FBXO25	26260	broad.mit.edu	37	chr8	381399	381399	+	Frame_Shift_Del	DEL	A	A	-													aagagcatgaatatgcatcgAaaaaaaggaaaaaggaccat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:381398_381398GA>G	uc003wox.3	+	2	458	c.192_192GA>G	c.(190-192)tcgfs	p.S64fs	FBXO25_uc003woy.3_Frame_Shift_Del_p.S64fs|FBXO25_uc003woz.3_Frame_Shift_Del_p.R14fs	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	64	Interaction with beta-actin.					SCF ubiquitin ligase complex|nucleus	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)		AATATGCATCGAAAAAAAGGA	0.259													-	381399	A	-	381399	7	5	279	1	0	1	0	1	0	0	0	0	5736	247	9	0	199	0	FBXO25	8	381399	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08		381399	145982623	440	143433											
DLGAP2	9228	broad.mit.edu	37	chr8	1645405	1645405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggacgtcagcatgaagttCgacgagctgcagcggctgcg	16	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:1645405C>T	uc003wpl.2	+	11	2746	c.2649C>T	c.(2647-2649)TTC>TTT	p.F883F	DLGAP2_uc003wpm.2_Silent_p.F869F	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	962					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		GCATGAAGTTCGACGAGCTGC	0.642													T	1645405	C	T	1645405	2	4	279	1	0	0	0	0	0	0	0	1	4560	883	31	1		1	DLGAP2	8	1645405	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1264006	1645405	144718617	441	143434											
ARHGEF10	9639	broad.mit.edu	37	chr8	1851600	1851600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatagccaaagccataaacGaaagatacctgaacaaggtt	7	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:1851600G>A	uc003wpr.2	+	16	1982	c.1804G>A	c.(1804-1806)GAA>AAA	p.E602K	ARHGEF10_uc003wpq.1_Missense_Mutation_p.E626K|ARHGEF10_uc003wps.2_Missense_Mutation_p.E564K|ARHGEF10_uc003wpt.2_Missense_Mutation_p.E478K|ARHGEF10_uc003wpv.2_Missense_Mutation_p.E335K|ARHGEF10_uc010lre.2_Missense_Mutation_p.E282K	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	627					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			large_intestine(1)	1		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)		AGCCATAAACGAAAGATACCT	0.398													A	1851600	G	A	1851600	3	1	279	1	0	0	0	0	1	0	0	0	894	1059	37	1	1862	1	ARHGEF10	8	1851600	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	206195	1851600	144512422	442	143435											
CSMD1	64478	broad.mit.edu	37	chr8	3224595	3224595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtacgaaattgagaagTctgatataaaccgaagctgg	10	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:3224595T>C	uc011kwk.1	-	20	3467	c.3077A>G	c.(3076-3078)GAC>GGC	p.D1026G	CSMD1_uc011kwj.1_Missense_Mutation_p.D418G|CSMD1_uc003wqe.2_Missense_Mutation_p.D182G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1026	Extracellular (Potential).|CUB 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)		AATTGAGAAGTCTGATATAAA	0.478													C	3224595	T	C	3224595	3	2	279	1	0	0	0	0	1	0	0	0	3944	1667	58	3	7824	3	CSMD1	8	3224595	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1372995	3224595	143139427	443	143436											
TNKS	8658	broad.mit.edu	37	chr8	9565940	9565940	+	Frame_Shift_Del	DEL	A	A	-													aagcagacttagctaaagttAaaaaaacactcgctctggaa					rs56411177	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:9565939_9565939TA>T	uc003wss.3	+	8	1520	c.1515_1515TA>T	c.(1513-1515)gttfs	p.V505fs	TNKS_uc011kwv.1_Frame_Shift_Del_p.V505fs|TNKS_uc011kww.2_Frame_Shift_Del_p.V268fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	505					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|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	Golgi membrane|chromosome, centromeric region|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)		TAGCTAAAGTTAAAAAAACAC	0.328													-	9565940	A	-	9565940	7	5	279	1	0	1	0	1	0	0	0	0	16316	363	13	0	1550	0	TNKS	8	9565940	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	6341345	9565940	136798082	444	143437											
LGI3	203190	broad.mit.edu	37	chr8	22005848	22005848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcccactggtagatcTgggtgaaggagaaatcactg	11	10	3	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:22005848T>C	uc003xav.2	-	8	1761	c.1472A>G	c.(1471-1473)CAG>CGG	p.Q491R	LGI3_uc010ltu.2_Missense_Mutation_p.Q467R	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	491	EAR 6.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CTGGTAGATCTGGGTGAAGGA	0.652													C	22005848	T	C	22005848	3	2	279	1	0	0	0	0	1	0	0	0	8753	1580	55	3	178	3	LGI3	8	22005848	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	12439908	22005848	124358174	445	143438											
KIAA1967	57805	broad.mit.edu	37	chr8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-													ttcagtacctgcagccgggaCccccccggcggcttcagaca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582													-	22472975	C	-	22472975	7	5	279	1	0	1	0	1	0	0	0	0	8265	507	18	0	1285	0	KIAA1967	8	22472975	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	467127	22472975	123891047	446	143439											
LOXL2	4017	broad.mit.edu	37	chr8	23155605	23155605	+	Frame_Shift_Del	DEL	T	T	-													gcccgctgaagtgctcaaacTttttttccgtctcttcgctg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:23155604_23155604CT>C	uc003xdh.1	-	13	2616	c.2277_2277AG>G	c.(2275-2277)aagfs	p.K759fs	LOXL2_uc010lty.1_Frame_Shift_Del_p.S261fs	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	759					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)		AGTGCTCAAACTTTTTTTCCG	0.537													-	23155605	T	-	23155605	7	5	279	1	0	1	0	1	0	0	0	0	8900	1609	56	0	52	0	LOXL2	8	23155605	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	682630	23155605	123208417	447	143440											
LOXL2	4017	broad.mit.edu	37	chr8	23198656	23198656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccatcactggggtgcGcttgcggtaggttgagagga	16	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:23198656G>A	uc003xdh.1	-	4	931	c.592C>T	c.(592-594)CGC>TGC	p.R198C	uc003xdj.2_RNA|uc003xdi.2_RNA	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	198	SRCR 2.				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)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACTGGGGTGCGCTTGCGGTAG	0.567													A	23198656	G	A	23198656	3	1	279	1	0	0	0	0	1	0	0	0	8900	1087	38	1	1776	1	LOXL2	8	23198656	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	43051	23198656	123165366	448	143441											
PTK2B	2185	broad.mit.edu	37	chr8	27278190	27278190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtatgaccttcaaatcCgctacttgccagaagacttc	8	12	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:27278190C>T	uc003xfn.1	+	9	1208	c.400C>T	c.(400-402)CGC>TGC	p.R134C	PTK2B_uc003xfo.1_Missense_Mutation_p.R134C|PTK2B_uc003xfp.1_Missense_Mutation_p.R134C|PTK2B_uc003xfq.1_Missense_Mutation_p.R134C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	134	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCTTCAAATCCGCTACTTGCC	0.493													T	27278190	C	T	27278190	3	4	279	1	0	0	0	0	1	0	0	0	12763	652	23	1	410	1	PTK2B	8	27278190	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4079534	27278190	119085832	449	143442											
PTK2B	2185	broad.mit.edu	37	chr8	27288462	27288462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagggaggaggagtgcGtcatgaagttcttcaacact	13	9	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:27288462G>A	uc003xfn.1	+	13	1547	c.739G>A	c.(739-741)GTC>ATC	p.V247I	PTK2B_uc003xfo.1_Missense_Mutation_p.V247I|PTK2B_uc003xfp.1_Missense_Mutation_p.V247I|PTK2B_uc003xfq.1_Missense_Mutation_p.V247I|PTK2B_uc010luq.1_Missense_Mutation_p.V18I|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	247	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAGGAGTGCGTCATGAAGTT	0.582													A	27288462	G	A	27288462	3	1	279	1	0	0	0	0	1	0	0	0	12763	1145	40	1	765	1	PTK2B	8	27288462	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10272	27288462	119075560	450	143443											
SCARA5	286133	broad.mit.edu	37	chr8	27729504	27729504	+	Frame_Shift_Del	DEL	C	C	-													ggcatgtccacagtttgtcaCcccccatttggagaagctgc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:27729503_27729503AC>A	uc003xgj.3	-	8	2047	c.1436_1436GT>T	c.(1435-1437)gtgfs	p.V479fs	SCARA5_uc010luz.3_Frame_Shift_Del_p.V254fs	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	479	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACAGTTTGTCACCCCCCATTT	0.572													-	27729504	C	-	27729504	7	5	279	1	0	1	0	1	0	0	0	0	13880	507	18	0	56	0	SCARA5	8	27729504	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	441042	27729504	118634518	451	143444											
EXTL3	2137	broad.mit.edu	37	chr8	28573610	28573610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgcggaatgggggcGcggggaacggaggtcagacc	19	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:28573610G>A	uc003xgz.1	+	3	627	c.34G>A	c.(34-36)GCG>ACG	p.A12T		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	12	Cytoplasmic (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GAATGGGGGCGCGGGGAACGG	0.607													A	28573610	G	A	28573610	3	1	279	1	0	0	0	0	1	0	0	0	5327	1087	38	1	36	1	EXTL3	8	28573610	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	844106	28573610	117790412	452	143445											
EXTL3	2137	broad.mit.edu	37	chr8	28608343	28608343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgctcttcaagacacGcctgccccatgacaagacca	7	15	3	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:28608343G>A	uc003xgz.1	+	7	3313	c.2720G>A	c.(2719-2721)CGC>CAC	p.R907H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	907	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCAAGACACGCCTGCCCCAT	0.562													A	28608343	G	A	28608343	3	1	279	1	0	0	0	0	1	0	0	0	5327	1087	38	1	2738	1	EXTL3	8	28608343	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	34733	28608343	117755679	453	143446											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729956	37729956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctcttccagcttccgCatcatggaatcaatggaagg	8	13	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:37729956C>T	uc003xkm.1	-	4	2408	c.2364G>A	c.(2362-2364)ATG>ATA	p.M788I	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.M117I|RAB11FIP1_uc003xko.1_Missense_Mutation_p.M117I|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	788					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCAGCTTCCGCATCATGGAAT	0.547													T	37729956	C	T	37729956	3	4	279	1	0	0	0	0	1	0	0	0	12893	710	25	2	1499	2	RAB11FIP1	8	37729956	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	9121613	37729956	108634066	454	143447											
MYST3	7994	broad.mit.edu	37	chr8	41794925	41794925	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcctcctcttcttcatcGatctcaaacgtgggttctaa	5	13	6	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:41794925G>A	uc010lxb.2	-	17	3745	c.3201C>T	c.(3199-3201)ATC>ATT	p.I1067I	MYST3_uc010lxc.2_Silent_p.I1067I|MYST3_uc003xon.3_Silent_p.I1067I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1067					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTTCTTCATCGATCTCAAACG	0.433													A	41794925	G	A	41794925	2	1	279	1	0	0	0	0	0	0	0	1	10104	1048	37	1		1	MYST3	8	41794925	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4064969	41794925	104569097	455	143448											
MYST3	7994	broad.mit.edu	37	chr8	41906483	41906483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtataaagcgggtttgCgagttttaccatggtgaagg	13	6	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:41906483C>T	uc010lxb.2	-	3	557	c.13G>A	c.(13-15)GCA>ACA	p.A5T	MYST3_uc010lxc.2_Missense_Mutation_p.A5T|MYST3_uc003xon.3_Missense_Mutation_p.A5T|MYST3_uc010lxd.2_Missense_Mutation_p.A5T	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	5	Required for activation of RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AGCGGGTTTGCGAGTTTTACC	0.413													T	41906483	C	T	41906483	3	4	279	1	0	0	0	0	1	0	0	0	10104	768	27	1	6065	1	MYST3	8	41906483	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	111558	41906483	104457539	456	143449											
RNF170	81790	broad.mit.edu	37	chr8	42742939	42742939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccacaagtacttggtcGcttactccttctataactga	6	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:42742939G>A	uc003xpo.2	-	2	546	c.69C>T	c.(67-69)AGC>AGT	p.S23S	RNF170_uc011lcx.1_Silent_p.S23S|RNF170_uc010lxp.2_Intron|RNF170_uc003xpm.2_Silent_p.S23S|RNF170_uc003xpp.2_5'UTR|RNF170_uc003xpn.2_5'UTR|RNF170_uc003xpq.3_Silent_p.S23S	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	ring finger protein 170 isoform a	23						integral to membrane	zinc ion binding				0	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTACTTGGTCGCTTACTCCTT	0.383													A	42742939	G	A	42742939	2	1	279	1	0	0	0	0	0	0	0	1	13462	1078	38	1		1	RNF170	8	42742939	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	836456	42742939	103621083	457	143450											
POTEA	340441	broad.mit.edu	37	chr8	43155752	43155752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctaatttaaatgcacTtgataggtttggaaggtata	9	3	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:43155752T>G	uc003xpz.1	+	4	723	c.680T>G	c.(679-681)CTT>CGT	p.L227R	POTEA_uc003xqa.1_Missense_Mutation_p.L227R	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	227										ovary(1)	1						TTAAATGCACTTGATAGGTTT	0.318													G	43155752	T	G	43155752	3	3	279	1	0	0	0	0	1	0	0	0	12261	1609	56	5	694	5	POTEA	8	43155752	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	412813	43155752	103208270	458	143451											
PXDNL	137902	broad.mit.edu	37	chr8	52321056	52321056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaaagagttaatgatgCctgcattcacgttggggttg	12	6	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:52321056C>T	uc003xqu.3	-	17	3229	c.3128G>A	c.(3127-3129)GGC>GAC	p.G1043D	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1043					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTTAATGATGCCTGCATTCAC	0.498													T	52321056	C	T	52321056	3	4	279	1	0	0	0	0	1	0	0	0	12848	739	26	2	1291	2	PXDNL	8	52321056	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	9165304	52321056	94042966	459	143452											
PXDNL	137902	broad.mit.edu	37	chr8	52321771	52321771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctagaaaccagccccagtGcatgagcatgcgcgtgtagc	11	13	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:52321771G>A	uc003xqu.3	-	17	2514	c.2413C>T	c.(2413-2415)CAC>TAC	p.H805Y	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	805					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGCCCCAGTGCATGAGCATG	0.711													A	52321771	G	A	52321771	3	1	279	1	0	0	0	0	1	0	0	0	12848	1319	46	2	2006	2	PXDNL	8	52321771	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	715	52321771	94042251	460	143453											
RB1CC1	9821	broad.mit.edu	37	chr8	53596230	53596230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaggaatagcaggtggaCgatcacataagatcatttct	9	6	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:53596230C>T	uc003xre.3	-	5	806	c.248G>A	c.(247-249)CGT>CAT	p.R83H	RB1CC1_uc003xrf.3_Missense_Mutation_p.R83H	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	83					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGCAGGTGGACGATCACATAA	0.284													T	53596230	C	T	53596230	3	4	279	1	0	0	0	0	1	0	0	0	13099	536	19	1	4616	1	RB1CC1	8	53596230	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1274459	53596230	92767792	461	143454											
NPBWR1	2831	broad.mit.edu	37	chr8	53852972	53852972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggggatcgtcacactcGtcgtgctgcccttcgcagtc	13	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:53852972G>A	uc011ldu.1	+	1	505	c.505G>A	c.(505-507)GTC>ATC	p.V169I		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	169	Helical; Name=4; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGTCACACTCGTCGTGCTGCC	0.726													A	53852972	G	A	53852972	3	1	279	1	0	0	0	0	1	0	0	0	10568	1145	40	1	507	1	NPBWR1	8	53852972	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	256742	53852972	92511050	462	143455											
OPRK1	4986	broad.mit.edu	37	chr8	54163406	54163406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaacactacggagtagacCgccgtgatgatgaccgggat	13	10	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:54163406C>T	uc003xrh.1	-	1	567	c.192G>A	c.(190-192)GCG>GCA	p.A64A	OPRK1_uc003xri.1_Silent_p.A64A|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	64	Helical; Name=1; (Potential).				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			ovary(1)|skin(1)	2		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)	CGGAGTAGACCGCCGTGATGA	0.701													T	54163406	C	T	54163406	2	4	279	1	0	0	0	0	0	0	0	1	10885	639	23	1		1	OPRK1	8	54163406	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	310434	54163406	92200616	463	143456											
RGS20	8601	broad.mit.edu	37	chr8	54852152	54852152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagatgggatcagagcGgatggagatgcggaagcggc	19	7	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:54852152G>A	uc003xrp.2	+	3	619	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	RGS20_uc003xrq.2_Missense_Mutation_p.R61Q|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrs.2_Missense_Mutation_p.R29Q|RGS20_uc003xrt.2_Intron	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	176					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GGATCAGAGCGGATGGAGATG	0.647													A	54852152	G	A	54852152	3	1	279	1	0	0	0	0	1	0	0	0	13303	1116	39	1	610	1	RGS20	8	54852152	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	688746	54852152	91511870	464	143457											
XKR4	114786	broad.mit.edu	37	chr8	56015229	56015229	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccggacggcggcggcTgctcgcgctgctgctgctgc	17	16	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:56015229T>G	uc003xsf.2	+	1	213	c.181T>G	c.(181-183)TGC>GGC	p.C61G		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	61						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			cggcggcggctgctcgcgctg	0.244													G	56015229	T	G	56015229	3	3	279	1	0	0	0	0	1	0	0	0	17430	1580	55	5	183	5	XKR4	8	56015229	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1163077	56015229	90348793	465	143458											
TMEM68	137695	broad.mit.edu	37	chr8	56663664	56663664	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagaatttcaacacaTttttctcttggtccatgtag	5	11	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:56663664T>C	uc003xsg.1	-	3	615	c.546A>G	c.(544-546)AAA>AAG	p.K182K	TMEM68_uc003xsh.1_Silent_p.K182K	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	182						integral to membrane	acyltransferase activity			skin(1)	1			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTTCAACACATTTTTCTCTTG	0.378													C	56663664	T	C	56663664	2	2	279	1	0	0	0	0	0	0	0	1	16194	1490	52	3		3	TMEM68	8	56663664	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	648435	56663664	89700358	466	143459											
BHLHE22	27319	broad.mit.edu	37	chr8	65493419	65493419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcacaagagcctgagCgcctccacctccaagcgctt	8	17	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:65493419C>T	uc003xvi.2	+	1	606	c.72C>T	c.(70-72)AGC>AGT	p.S24S	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGAGCCTGAGCGCCTCCACCT	0.731													T	65493419	C	T	65493419	2	4	279	1	0	0	0	0	0	0	0	1	1421	767	27	1		1	BHLHE22	8	65493419	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8829755	65493419	80870603	467	143460											
MTFR1	9650	broad.mit.edu	37	chr8	66619376	66619377	+	Frame_Shift_Del	DEL	AA	AA	-													tgattaaagaacgaagagagAaaagagccaatgctggaaag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:66619375_66619376GAA>G	uc011lep.2	+	5	860_861	c.648_649GAA>G	c.(646-651)gagaaafs	p.E216fs	MTFR1_uc003xvm.2_Frame_Shift_Del_p.E216fs|MTFR1_uc003xvn.2_Frame_Shift_Del_p.E183fs	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	216						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AACGAAGAGAGAAAAGAGCCAA	0.47													-	66619377	AA	-	66619376	7	5	279	1	0	1	0	1	0	0	0	0	9925	247	9	0	667	0	MTFR1	8	66619376	Frame_Shift_Del	DEL	AA	TCGA-HU-A4H3-01A-21D-A25D-08	1125957	66619376	79744646	468	143461											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989062	66989062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccgagcagtttggagAcgaaaacgttaacacctact	11	10	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:66989062A>G	uc003xvs.1	+	4	578	c.287A>G	c.(286-288)GAC>GGC	p.D96G	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	96					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		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)			CAGTTTGGAGACGAAAACGTT	0.448													G	66989062	A	G	66989062	3	3	279	1	0	0	0	0	1	0	0	0	4651	275	10	3	293	3	DNAJC5B	8	66989062	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	369686	66989062	79374960	469	143462											
SULF1	23213	broad.mit.edu	37	chr8	70514037	70514037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgcctttttttattcGtggtccaagtgtagaaccag	10	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:70514037G>A	uc010lza.1	+	10	1751	c.1034G>A	c.(1033-1035)CGT>CAT	p.R345H	SULF1_uc003xyd.2_Missense_Mutation_p.R345H|SULF1_uc003xye.2_Missense_Mutation_p.R345H|SULF1_uc003xyf.2_Missense_Mutation_p.R345H|SULF1_uc003xyg.2_Missense_Mutation_p.R345H|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	345					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			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTTTTATTCGTGGTCCAAGT	0.413													A	70514037	G	A	70514037	3	1	279	1	0	0	0	0	1	0	0	0	15369	1145	40	1	1056	1	SULF1	8	70514037	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3524975	70514037	75849985	470	143463											
TRPA1	8989	broad.mit.edu	37	chr8	72967786	72967786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttcattcagaagcctcgTatcacttatgtcttgtagga	7	10	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:72967786T>C	uc003xza.2	-	12	1589	c.1414A>G	c.(1414-1416)ACG>GCG	p.T472A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	472	ANK 11.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AGAAGCCTCGTATCACTTATG	0.388													C	72967786	T	C	72967786	3	2	279	1	0	0	0	0	1	0	0	0	16574	1638	57	3	2009	3	TRPA1	8	72967786	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2453749	72967786	73396236	471	143464											
ESRP1	54845	broad.mit.edu	37	chr8	95690446	95690446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctaggcctgtctcctccctCctacacatttccagctcctg	5	18	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:95690446C>T	uc003ygq.3	+	13	1850	c.1667C>T	c.(1666-1668)TCC>TTC	p.S556F	ESRP1_uc003ygr.3_Missense_Mutation_p.S552F|ESRP1_uc003ygs.3_Missense_Mutation_p.S552F|ESRP1_uc003ygt.3_Missense_Mutation_p.S556F|ESRP1_uc003ygu.3_Missense_Mutation_p.S552F|ESRP1_uc003ygv.2_Missense_Mutation_p.S396F|ESRP1_uc003ygw.2_Missense_Mutation_p.S396F	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	556					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TCTCCTCCCTCCTACACATTT	0.478													T	95690446	C	T	95690446	3	4	279	1	0	0	0	0	1	0	0	0	5258	855	30	4	1717	4	ESRP1	8	95690446	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	22722660	95690446	50673576	472	143465											
VPS13B	157680	broad.mit.edu	37	chr8	100654601	100654601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacttacagctagagcCttttctgtactttattgtgt	9	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:100654601C>A	uc003yiv.2	+	34	5969	c.5858C>A	c.(5857-5859)CCT>CAT	p.P1953H	VPS13B_uc003yiw.2_Missense_Mutation_p.P1928H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1953					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGCTAGAGCCTTTTCTGTAC	0.463													A	100654601	C	A	100654601	3	1	279	1	0	0	0	0	1	0	0	0	17187	681	24	5	6182	5	VPS13B	8	100654601	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4964155	100654601	45709421	473	143466											
VPS13B	157680	broad.mit.edu	37	chr8	100865890	100865890	+	Frame_Shift_Del	DEL	G	G	-													actgtgtggagatctgctgtGgggacctgcagctagacaac							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:100865889_100865889TG>T	uc003yiv.3	+	55	10458	c.10347_10347TG>T	c.(10345-10347)tgtfs	p.C3449fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.C3424fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3449					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)			AGATCTGCTGTGGGGACCTGC	0.512													-	100865890	G	-	100865890	7	5	279	1	0	1	0	1	0	0	0	0	17187	1348	47	0	10760	0	VPS13B	8	100865890	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	211289	100865890	45498132	474	143467											
ANKRD46	157567	broad.mit.edu	37	chr8	101541845	101541845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccttgataatctgtggCcagaagatcggcaccgaatt	10	9	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:101541845C>T	uc003yjm.2	-	3	421	c.217G>A	c.(217-219)GCC>ACC	p.A73T	ANKRD46_uc003yjn.1_Missense_Mutation_p.A73T|ANKRD46_uc003yjo.1_Missense_Mutation_p.A73T|ANKRD46_uc003yjp.1_Missense_Mutation_p.A73T	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	73	ANK 2.					integral to membrane					0	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			TAATCTGTGGCCAGAAGATCG	0.458													T	101541845	C	T	101541845	3	4	279	1	0	0	0	0	1	0	0	0	674	739	26	2	481	2	ANKRD46	8	101541845	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	675955	101541845	44822177	475	143468											
DCAF13	25879	broad.mit.edu	37	chr8	104427341	104427341	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagactctagtactgagggGgcaagaacggggcacagaca	16	8	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:104427341G>T	uc003yln.2	+	1	400	c.123G>T	c.(121-123)GGG>GGT	p.G41G	SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						GTACTGAGGGGGCAAGAACGG	0.657													T	104427341	G	T	104427341	2	4	279	1	0	0	0	0	0	0	0	1	4266	1219	43	5		5	DCAF13	8	104427341	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2885496	104427341	41936681	476	143469											
RIMS2	9699	broad.mit.edu	37	chr8	104709417	104709417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgcgccaacctgtggtAtctgccacaaaacaaagttt	9	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:104709417A>G	uc003ylp.2	+	2	419	c.280A>G	c.(280-282)ATC>GTC	p.I94V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	125	FYVE-type.|RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACCTGTGGTATCTGCCACAA	0.448										HNSCC(12;0.0054)			G	104709417	A	G	104709417	3	3	279	1	0	0	0	0	1	0	0	0	13368	449	16	3	286	3	RIMS2	8	104709417	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	282076	104709417	41654605	477	143470											
RIMS2	9699	broad.mit.edu	37	chr8	105026793	105026793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtactccagtcgcaggacGaaggggccgacagcttccac	12	13	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:105026793G>A	uc003yls.2	+	17	2745	c.2504G>A	c.(2503-2505)CGA>CAA	p.R835Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R1095Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R909Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R909Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R934Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1157					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCGCAGGACGAAGGGGCCGA	0.433										HNSCC(12;0.0054)			A	105026793	G	A	105026793	3	1	279	1	0	0	0	0	1	0	0	0	13368	1058	37	1	3554	1	RIMS2	8	105026793	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	317376	105026793	41337229	478	143471											
KCNV1	27012	broad.mit.edu	37	chr8	110980792	110980792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaggccgacttcttcgTaacactgggtgattgtcatc	11	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:110980792T>C	uc003ynr.3	-	3	1370	c.1028A>G	c.(1027-1029)TAC>TGC	p.Y343C	KCNV1_uc010mcw.2_Missense_Mutation_p.Y343C	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	343	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GACTTCTTCGTAACACTGGGT	0.378													C	110980792	T	C	110980792	3	2	279	1	0	0	0	0	1	0	0	0	8094	1638	57	3	478	3	KCNV1	8	110980792	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	5953999	110980792	35383230	479	143472											
CSMD3	114788	broad.mit.edu	37	chr8	113314033	113314033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgtacctaggcatctgGtttcagattcactccaaaga	7	10	4	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:113314033G>A	uc003ynu.2	-	53	8588	c.8429C>T	c.(8428-8430)ACC>ATC	p.T2810I	CSMD3_uc003yns.2_Missense_Mutation_p.T2012I|CSMD3_uc003ynt.2_Missense_Mutation_p.T2770I|CSMD3_uc011lhx.1_Missense_Mutation_p.T2641I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2810	Extracellular (Potential).|Sushi 17.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TAGGCATCTGGTTTCAGATTC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113314033	G	A	113314033	3	1	279	1	0	0	0	0	1	0	0	0	3946	1261	44	4	2770	4	CSMD3	8	113314033	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2333241	113314033	33049989	480	143473											
CSMD3	114788	broad.mit.edu	37	chr8	113518929	113518929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaactcacctgatgaacGccaaggagataacatagtct	8	9	2	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:113518929G>A	uc003ynu.2	-	29	5045	c.4886C>T	c.(4885-4887)GCG>GTG	p.A1629V	CSMD3_uc003yns.2_Missense_Mutation_p.A901V|CSMD3_uc003ynt.2_Missense_Mutation_p.A1589V|CSMD3_uc011lhx.1_Missense_Mutation_p.A1525V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1629	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTGATGAACGCCAAGGAGAT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113518929	G	A	113518929	3	1	279	1	0	0	0	0	1	0	0	0	3946	1087	38	1	6409	1	CSMD3	8	113518929	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	204896	113518929	32845093	481	143474											
CSMD3	114788	broad.mit.edu	37	chr8	113585761	113585761	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agttgaaagccttcatctgtCccttcagtatcggaattaaa	7	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:113585761C>A	uc003ynu.2	-	24	4170	c.4011G>T	c.(4009-4011)GGG>GGT	p.G1337G	CSMD3_uc003yns.2_Silent_p.G609G|CSMD3_uc003ynt.2_Silent_p.G1297G|CSMD3_uc011lhx.1_Silent_p.G1233G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1337	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTTCATCTGTCCCTTCAGTAT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113585761	C	A	113585761	2	1	279	1	0	0	0	0	0	0	0	1	3946	842	30	5		5	CSMD3	8	113585761	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	66832	113585761	32778261	482	143475											
TRPS1	7227	broad.mit.edu	37	chr8	116430571	116430571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccgagtgaagcttcTggtagaggccacacgcgttg	12	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:116430571T>C	uc003ynz.2	-	5	3230	c.2771A>G	c.(2770-2772)CAG>CGG	p.Q924R	TRPS1_uc011lhy.1_Missense_Mutation_p.Q928R|TRPS1_uc003yny.2_Missense_Mutation_p.Q937R|TRPS1_uc010mcy.2_Missense_Mutation_p.Q924R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	924					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			GTGAAGCTTCTGGTAGAGGCC	0.488									Langer-Giedion_syndrome				C	116430571	T	C	116430571	3	2	279	1	0	0	0	0	1	0	0	0	16590	1580	55	3	1082	3	TRPS1	8	116430571	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2844810	116430571	29933451	483	143476											
COL14A1	7373	broad.mit.edu	37	chr8	121238900	121238900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatacttagaaattgaTgaggtgacgacagacagttt	10	6	0	5			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:121238900T>C	uc003yox.2	+	16	2164	c.1899T>C	c.(1897-1899)GAT>GAC	p.D633D	COL14A1_uc003yoy.2_Silent_p.D311D	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	633	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TAGAAATTGATGAGGTGACGA	0.473													C	121238900	T	C	121238900	2	2	279	1	0	0	0	0	0	0	0	1	3671	1461	51	3		3	COL14A1	8	121238900	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	4808329	121238900	25125122	484	143477											
WDR67	93594	broad.mit.edu	37	chr8	124121565	124121565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttgtagaatgaattAccagatggattaaacaaaaa	6	4	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:124121565A>G	uc003ypp.1	+	9	1308	c.1218A>G	c.(1216-1218)TTA>TTG	p.L406L	WDR67_uc011lig.1_Silent_p.L406L|WDR67_uc011lih.1_Silent_p.L296L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.L119L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	406						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAATGAATTACCAGATGGAT	0.294													G	124121565	A	G	124121565	2	3	279	1	0	0	0	0	0	0	0	1	17315	388	14	3		3	WDR67	8	124121565	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2882665	124121565	22242457	485	143478											
ATAD2	29028	broad.mit.edu	37	chr8	124359583	124359583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatagatctgtgggtagCgtcgtcgtaaagcacataaa	12	6	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:124359583C>T	uc003yqh.3	-	16	2069	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	ATAD2_uc011lii.1_Missense_Mutation_p.R445H|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.R654H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTGGGTAGCGTCGTCGTAA	0.418													T	124359583	C	T	124359583	3	4	279	1	0	0	0	0	1	0	0	0	1071	768	27	1	2263	1	ATAD2	8	124359583	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	238018	124359583	22004439	486	143479											
ATAD2	29028	broad.mit.edu	37	chr8	124382200	124382200	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtcatcatcatcatcAtcttcatcatcttcatcttc	1	14	12	0	rs149848860	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:124382200A>T	uc003yqh.3	-	7	900	c.792T>A	c.(790-792)GAT>GAA	p.D264E	ATAD2_uc011lii.1_Missense_Mutation_p.D55E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.D264E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	264	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcatcatcttcatcat	0.169													T	124382200	A	T	124382200	3	4	279	1	0	0	0	0	1	0	0	0	1071	214	8	5	3468	5	ATAD2	8	124382200	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	22617	124382200	21981822	487	143480											
TRMT12	55039	broad.mit.edu	37	chr8	125464363	125464363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggtgggcagaatctGcagaaactcgaatcgccact	12	10	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:125464363G>A	uc003yra.3	+	1	1316	c.1195G>A	c.(1195-1197)GCA>ACA	p.A399T		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	399					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCAGAATCTGCAGAAACTCG	0.488													A	125464363	G	A	125464363	3	1	279	1	0	0	0	0	1	0	0	0	16561	1319	46	2	1197	2	TRMT12	8	125464363	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1082163	125464363	20899659	488	143481											
RNF139	11236	broad.mit.edu	37	chr8	125499032	125499032	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attaatgtctctcagtgcctCtcatgtgtcatcttttcgta	6	10	5	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:125499032C>A	uc003yrc.2	+	2	1485	c.1142C>A	c.(1141-1143)TCT>TAT	p.S381Y		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	381					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCAGTGCCTCTCATGTGTCA	0.393									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				A	125499032	C	A	125499032	3	1	279	1	0	0	0	0	1	0	0	0	13442	913	32	5	1148	5	RNF139	8	125499032	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	34669	125499032	20864990	489	143482											
PHF20L1	51105	broad.mit.edu	37	chr8	133837586	133837586	+	Frame_Shift_Del	DEL	A	A	-													gaccaaaacagaagaagaagAaaaaaaagaaaaagaaatct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:133837586delA	uc003ytt.2	+	14	2039	c.1714delA	c.(1714-1716)AAAfs	p.K572fs	PHF20L1_uc011lja.1_Frame_Shift_Del_p.K546fs|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	572	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(2)	2	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)			gaagaagaagaaaaaaaagaa	0.194													-	133837586	A	-	133837586	7	5	279	1	0	1	0	1	0	0	0	0	11832	247	9	0	1860	0	PHF20L1	8	133837586	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	8338554	133837586	12526436	490	143483											
TG	7038	broad.mit.edu	37	chr8	133920513	133920513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtgcagtgctgactaCgcggatttgctgcagacttt	12	8	0	3	rs143023529		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:133920513C>T	uc003ytw.2	+	18	3971	c.3930C>T	c.(3928-3930)TAC>TAT	p.Y1310Y	TG_uc010mdw.2_Silent_p.Y69Y	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1310					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		GTGCTGACTACGCGGATTTGC	0.597													T	133920513	C	T	133920513	2	4	279	1	0	0	0	0	0	0	0	1	15810	547	19	1		1	TG	8	133920513	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	82927	133920513	12443509	491	143484											
FLJ43860	389690	broad.mit.edu	37	chr8	142506590	142506590	+	Frame_Shift_Del	DEL	G	G	-													ccttcatggatgtggagacaGggggggagattctgaaatgg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:142506589_142506589AG>A	uc003ywi.2	-	1	174	c.93_93CT>T	c.(91-93)cctfs	p.P31fs	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	31							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			ATGTGGAGACAGGGGGGGAGA	0.557													-	142506590	G	-	142506590	7	5	279	1	0	1	0	1	0	0	0	0	5930	1000	35	0	3980	0	FLJ43860	8	142506590	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	8586077	142506590	3857432	492	143485											
EPPK1	83481	broad.mit.edu	37	chr8	144940592	144940592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgacagcctcaggttgCgcacggggtcgatgacgaag	14	13	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144940592C>T	uc003zaa.1	-	2	14853	c.14840G>A	c.(14839-14841)CGC>CAC	p.R4947H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4947	Plectin 62.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			CCTCAGGTTGCGCACGGGGTC	0.726													T	144940592	C	T	144940592	3	4	279	1	0	0	0	0	1	0	0	0	5190	768	27	1	436	1	EPPK1	8	144940592	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2434002	144940592	1423430	493	143486											
EPPK1	83481	broad.mit.edu	37	chr8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-													ggtgctgtgggtcgatgacaCcccccgtggccacctgcacc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144941378delC	uc003zaa.1	-	1	6057	c.6044delG	c.(6043-6045)GGTfs	p.G2015fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2015	Plectin 34.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			GTCGATGACACCCCCCGTGGC	0.622													-	144941378	C	-	144941378	7	5	279	1	0	1	0	1	0	0	0	0	5190	507	18	0	1222	0	EPPK1	8	144941378	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	786	144941378	1422644	494	143487											
PLEC	5339	broad.mit.edu	37	chr8	144991177	144991177	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccgtctcctcagtggggtctGaccaggaggccagctgggtc	15	13	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144991177G>A	uc003zaf.1	-	32	13393	c.13223C>T	c.(13222-13224)TCA>TTA	p.S4408L	PLEC_uc003zab.1_Missense_Mutation_p.S4271L|PLEC_uc003zac.1_Missense_Mutation_p.S4275L|PLEC_uc003zad.2_Missense_Mutation_p.S4271L|PLEC_uc003zae.1_Missense_Mutation_p.S4239L|PLEC_uc003zag.1_Missense_Mutation_p.S4249L|PLEC_uc003zah.2_Missense_Mutation_p.S4257L|PLEC_uc003zaj.2_Missense_Mutation_p.S4298L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4408	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGTGGGGTCTGACCAGGAGGC	0.672													A	144991177	G	A	144991177	3	1	279	1	0	0	0	0	1	0	0	0	12052	1294	45	4	835	4	PLEC	8	144991177	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	49799	144991177	1372845	495	143488											
PLEC	5339	broad.mit.edu	37	chr8	144995188	144995188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccgccgctgctctgccGtgaagtattccgagttgatg	13	12	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144995188G>A	uc003zaf.1	-	32	9382	c.9212C>T	c.(9211-9213)ACG>ATG	p.T3071M	PLEC_uc003zab.1_Missense_Mutation_p.T2934M|PLEC_uc003zac.1_Missense_Mutation_p.T2938M|PLEC_uc003zad.2_Missense_Mutation_p.T2934M|PLEC_uc003zae.1_Missense_Mutation_p.T2902M|PLEC_uc003zag.1_Missense_Mutation_p.T2912M|PLEC_uc003zah.2_Missense_Mutation_p.T2920M|PLEC_uc003zaj.2_Missense_Mutation_p.T2961M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3071	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTGCTCTGCCGTGAAGTATTC	0.602													A	144995188	G	A	144995188	3	1	279	1	0	0	0	0	1	0	0	0	12052	1145	40	1	4846	1	PLEC	8	144995188	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4011	144995188	1368834	496	143489											
PLEC	5339	broad.mit.edu	37	chr8	144995398	144995398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgctccagtagctgcaggTacgtgaggttctcgtgcgtg	15	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:144995398T>C	uc003zaf.1	-	32	9172	c.9002A>G	c.(9001-9003)TAC>TGC	p.Y3001C	PLEC_uc003zab.1_Missense_Mutation_p.Y2864C|PLEC_uc003zac.1_Missense_Mutation_p.Y2868C|PLEC_uc003zad.2_Missense_Mutation_p.Y2864C|PLEC_uc003zae.1_Missense_Mutation_p.Y2832C|PLEC_uc003zag.1_Missense_Mutation_p.Y2842C|PLEC_uc003zah.2_Missense_Mutation_p.Y2850C|PLEC_uc003zaj.2_Missense_Mutation_p.Y2891C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3001	Globular 2.|Plectin 5.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TAGCTGCAGGTACGTGAGGTT	0.647													C	144995398	T	C	144995398	3	2	279	1	0	0	0	0	1	0	0	0	12052	1638	57	3	5056	3	PLEC	8	144995398	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	210	144995398	1368624	497	143490											
GPAA1	8733	broad.mit.edu	37	chr8	145139352	145139352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatcattggatggaccgCtgcagggcctgcagacactg	14	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:145139352C>T	uc003zax.2	+	7	960	c.850C>T	c.(850-852)CTG>TTG	p.L284L	GPAA1_uc003zav.1_Silent_p.L162L|GPAA1_uc003zaw.1_Silent_p.L224L	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	284	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	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)			GGATGGACCGCTGCAGGGCCT	0.657													T	145139352	C	T	145139352	2	4	279	1	0	0	0	0	0	0	0	1	6587	796	28	2		2	GPAA1	8	145139352	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	143954	145139352	1224670	498	143491											
RECQL4	9401	broad.mit.edu	37	chr8	145738257	145738257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatgtccaaagcctgtaCggtaagctgtattgggagtg	14	8	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr8:145738257C>T	uc003zdj.2	-	16	2760	c.2728G>A	c.(2728-2730)GTA>ATA	p.V910I		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	910					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)|lung(1)|skin(1)	4	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)			AAAGCCTGTACGGTAAGCTGT	0.652			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				T	145738257	C	T	145738257	3	4	279	1	0	0	0	0	1	0	0	0	13202	536	19	1	926	1	RECQL4	8	145738257	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	598905	145738257	625765	499	143492											
FOXD4	2298	broad.mit.edu	37	chr9	117822	117822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggctttgccggctgccGggcatcttcagaggccgccg	18	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:117822G>A	uc003zfz.2	-	1	596	c.298C>T	c.(298-300)CGG>TGG	p.R100W		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	100					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			skin(1)	1	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)		GCCGGCTGCCGGGCATCTTCA	0.682													A	117822	G	A	117822	3	1	279	1	0	0	0	0	1	0	0	0	5999	1115	39	1	1025	1	FOXD4	9	117822	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		117822	141095609	500	143493											
KIAA0020	9933	broad.mit.edu	37	chr9	2807900	2807900	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctacaagtgtttttgcaaaAcaacctgtaaaatatactga	5	7	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:2807900A>T	uc003zhp.1	-	17	1824	c.1728T>A	c.(1726-1728)TGT>TGA	p.C576*	KIAA0020_uc010mhc.1_Nonsense_Mutation_p.C575*|KIAA0020_uc003zhq.1_Nonsense_Mutation_p.C575*	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	576						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		TTTTTGCAAAACAACCTGTAA	0.358													T	2807900	A	T	2807900	4	4	279	1	0	0	0	0	0	1	0	0	8152	41	2	5	226	5	KIAA0020	9	2807900	Nonsense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2690078	2807900	138405531	501	143494											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777025	18777025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccttcggctatctcaAgatccaccgcctcaagccct	7	19	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:18777025A>G	uc003zne.3	+	19	2925	c.2798A>G	c.(2797-2799)AAG>AGG	p.K933R		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	933	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCTATCTCAAGATCCACCGC	0.657													G	18777025	A	G	18777025	3	3	279	1	0	0	0	0	1	0	0	0	274	72	3	3	2876	3	ADAMTSL1	9	18777025	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	15969125	18777025	122436406	502	143495											
DENND4C	55667	broad.mit.edu	37	chr9	19346885	19346887	+	In_Frame_Del	DEL	CTT	CTT	-													aactcataaagaacgttcaaCttctttgtcagcactggtgc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:19346885_19346887delCTT	uc003znq.2	+	18	3296_3298	c.3263_3265delCTT	c.(3262-3267)ACTTCT>ACT	p.S1089del	DENND4C_uc011lnc.1_In_Frame_Del_p.S419del|DENND4C_uc011lnd.1_In_Frame_Del_p.S377del|DENND4C_uc003znr.2_In_Frame_Del_p.S377del|DENND4C_uc003zns.2_In_Frame_Del_p.S271del|DENND4C_uc003znt.2_In_Frame_Del_p.S271del	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1089						integral to membrane				ovary(1)|skin(1)	2						GAACGTTCAACTTCTTTGTCAGC	0.468													-	19346887	CTT	-	19346885	7	5	279	1	0	1	0	1	0	0	0	0	4435	565	20	0	3333	0	DENND4C	9	19346885	In_Frame_Del	DEL	CTT	TCGA-HU-A4H3-01A-21D-A25D-08	569860	19346885	121866546	503	143496											
KIAA1161	57462	broad.mit.edu	37	chr9	34372554	34372554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagcagcccagcagggCgccatcgcggctgcaggagt	17	13	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:34372554C>T	uc003zue.3	-	3	555	c.388G>A	c.(388-390)GCC>ACC	p.A130T		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	130	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCAGCAGGGCGCCATCGCGG	0.677													T	34372554	C	T	34372554	3	4	279	1	0	0	0	0	1	0	0	0	8211	768	27	1	1760	1	KIAA1161	9	34372554	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	15025669	34372554	106840877	504	143497											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										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)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	279	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	671096	35043650	106169781	505	143498											
VCP	7415	broad.mit.edu	37	chr9	35059794	35059794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacagggggcagcttggCgggcctgtaggaggaatgga	19	8	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35059794C>T	uc003zvy.2	-	14	2089	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.R236H|VCP_uc010mki.1_Missense_Mutation_p.R522H	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	567					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			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGCAGCTTGGCGGGCCTGTAG	0.413													T	35059794	C	T	35059794	3	4	279	1	0	0	0	0	1	0	0	0	17137	768	27	1	736	1	VCP	9	35059794	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	16144	35059794	106153637	506	143499											
PIGO	84720	broad.mit.edu	37	chr9	35091530	35091530	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgagaagtgggggggCctgagaagggagtgaggaca	20	5	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35091530C>G	uc003zwd.2	-	7	2750	c.2354G>C	c.(2353-2355)GGC>GCC	p.G785A	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.G348A	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	785					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGGGGGGGCCTGAGAAGGG	0.597													G	35091530	C	G	35091530	3	3	279	1	0	0	0	0	1	0	0	0	11894	739	26	5	935	5	PIGO	9	35091530	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	31736	35091530	106121901	507	143500											
SIT1	27240	broad.mit.edu	37	chr9	35650182	35650182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagccacagttgactcaccCtggcagggcctccaagagtt	10	15	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35650182C>A	uc003zxe.1	-	4	453	c.356G>T	c.(355-357)AGG>ATG	p.R119M	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	119	Cytoplasmic (Potential).				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGACTCACCCTGGCAGGGCC	0.577													A	35650182	C	A	35650182	3	1	279	1	0	0	0	0	1	0	0	0	14344	695	24	5	242	5	SIT1	9	35650182	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	558652	35650182	105563249	508	143501											
NPR2	4882	broad.mit.edu	37	chr9	35792877	35792877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgtggtgacactacacGggcacttcaattggactgcc	11	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:35792877G>A	uc003zyd.2	+	1	472	c.472G>A	c.(472-474)GGG>AGG	p.G158R	NPR2_uc010mlb.2_Missense_Mutation_p.G158R	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	158	Extracellular (Potential).				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			ovary(2)|stomach(1)	3	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)	GACACTACACGGGCACTTCAA	0.567													A	35792877	G	A	35792877	3	1	279	1	0	0	0	0	1	0	0	0	10595	1116	39	1	474	1	NPR2	9	35792877	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	142695	35792877	105420554	509	143502											
PGM5	5239	broad.mit.edu	37	chr9	71002450	71002450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgactttcatgccatcaagGgtttgctgactggacccagc	10	11	2	2	rs146547812	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:71002450G>T	uc004agr.2	+	4	872	c.643G>T	c.(643-645)GGT>TGT	p.G215C		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	215					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			ovary(1)|pancreas(1)	2						TGCCATCAAGGGTTTGCTGAC	0.438													T	71002450	G	T	71002450	3	4	279	1	0	0	0	0	1	0	0	0	11801	1232	43	5	657	5	PGM5	9	71002450	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	35209573	71002450	70210981	510	143503											
MAMDC2	256691	broad.mit.edu	37	chr9	72741207	72741207	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatccagcaggggaatgacaAtgtcttttccctttacactc	8	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:72741207A>T	uc004ahm.2	+	6	1393	c.776A>T	c.(775-777)AAT>ATT	p.N259I	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	259	MAM 2.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						GGGAATGACAATGTCTTTTCC	0.557													T	72741207	A	T	72741207	3	4	279	1	0	0	0	0	1	0	0	0	9203	101	4	5	798	5	MAMDC2	9	72741207	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1738757	72741207	68472224	511	143504											
PRUNE2	158471	broad.mit.edu	37	chr9	79322953	79322953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccctgtttgcacatcacGggagtctagattgtaagacc	9	11	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:79322953G>A	uc010mpk.2	-	8	4361	c.4237C>T	c.(4237-4239)CGT>TGT	p.R1413C		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1413					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TGCACATCACGGGAGTCTAGA	0.453													A	79322953	G	A	79322953	3	1	279	1	0	0	0	0	1	0	0	0	12641	1116	39	1	5077	1	PRUNE2	9	79322953	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6581746	79322953	61890478	512	143505											
VPS13A	23230	broad.mit.edu	37	chr9	79824434	79824434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatttccagtatccatattCgttatgaagatgatgtaagt	7	5	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:79824434C>T	uc004akr.2	+	6	741	c.481C>T	c.(481-483)CGT>TGT	p.R161C	VPS13A_uc004akp.3_Missense_Mutation_p.R161C|VPS13A_uc004akq.3_Missense_Mutation_p.R161C|VPS13A_uc004aks.2_Missense_Mutation_p.R161C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	161			R -> H (in a colorectal cancer sample; somatic mutation).		Golgi to endosome transport|protein transport	intracellular	protein binding	p.R161H(1)		pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TATCCATATTCGTTATGAAGA	0.274													T	79824434	C	T	79824434	3	4	279	1	0	0	0	0	1	0	0	0	17186	884	31	1	503	1	VPS13A	9	79824434	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	501481	79824434	61388997	513	143506											
CEP78	84131	broad.mit.edu	37	chr9	80858424	80858424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgggctgagagtcttcGctataggagacctgatcttg	12	9	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:80858424G>A	uc004akx.2	+	5	926	c.650G>A	c.(649-651)CGC>CAC	p.R217H	CEP78_uc004aky.3_Missense_Mutation_p.R217H|CEP78_uc010mpp.2_Missense_Mutation_p.R217H|CEP78_uc011lsp.1_Missense_Mutation_p.R130H	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	217					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						GAGAGTCTTCGCTATAGGAGA	0.408													A	80858424	G	A	80858424	3	1	279	1	0	0	0	0	1	0	0	0	3262	1087	38	1	668	1	CEP78	9	80858424	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1033990	80858424	60355007	514	143507											
ZCCHC6	79670	broad.mit.edu	37	chr9	88925684	88925684	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggaagaacttcacaatTggcacctttgctgttgtaat	8	7	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:88925684T>G	uc004aoq.2	-	18	3530	c.3315A>C	c.(3313-3315)CCA>CCC	p.P1105P	ZCCHC6_uc010mqe.2_Silent_p.P43P|ZCCHC6_uc011ltf.1_Intron|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Silent_p.P869P|ZCCHC6_uc004aou.2_Silent_p.P1105P	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1105					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						ACTTCACAATTGGCACCTTTG	0.343													G	88925684	T	G	88925684	2	3	279	1	0	0	0	0	0	0	0	1	17589	1799	63	5		5	ZCCHC6	9	88925684	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	8067260	88925684	52287747	515	143508											
S1PR3	1903	broad.mit.edu	37	chr9	91616486	91616486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgttcgtggcccttggggCgtccacctgcagcttactgg	13	12	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:91616486C>T	uc004aqe.2	+	2	767	c.371C>T	c.(370-372)GCG>GTG	p.A124V		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	124	Helical; Name=3; (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						GCCCTTGGGGCGTCCACCTGC	0.567											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	91616486	C	T	91616486	3	4	279	1	0	0	0	0	1	0	0	0	13795	768	27	1	373	1	S1PR3	9	91616486	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2690802	91616486	49596945	516	143509											
NOL8	55035	broad.mit.edu	37	chr9	95064081	95064082	+	Frame_Shift_Ins	INS	-	-	T													tagtttctcagcttcctcccINSttttcttttttcgttttgct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:95064081_95064082insT	uc004arv.2	-	13	3263_3264	c.2926_2927insA	c.(2926-2928)AGGfs	p.R976fs	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Frame_Shift_Ins_p.R208fs|NOL8_uc011ltw.1_Frame_Shift_Ins_p.R908fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	976					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						AGCTTCCTCCCTTTTCTTTTTT	0.312													T	95064082	-	T	95064081	7	5	279	1	0	1	1	0	0	0	0	0	10527	681	24	0	596	0	NOL8	9	95064081	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	3447595	95064081	46149350	517	143510											
FGD3	89846	broad.mit.edu	37	chr9	95738814	95738814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagagaactttccctgCgaggagggcttggaggctgg	18	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:95738814C>T	uc004asw.2	+	3	904	c.276C>T	c.(274-276)TGC>TGT	p.C92C	FGD3_uc004asx.2_Silent_p.C92C|FGD3_uc004asz.2_Silent_p.C92C	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	92					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			ovary(1)|breast(1)	2						ACTTTCCCTGCGAGGAGGGCT	0.652													T	95738814	C	T	95738814	2	4	279	1	0	0	0	0	0	0	0	1	5834	776	27	1		1	FGD3	9	95738814	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	674733	95738814	45474617	518	143511											
ZNF169	169841	broad.mit.edu	37	chr9	97062749	97062749	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacacttcaggtatacatcCtctctcactaatcacaagag	5	13	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:97062749C>A	uc004aum.1	+	5	1014	c.909C>A	c.(907-909)TCC>TCA	p.S303S		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	303	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GGTATACATCCTCTCTCACTA	0.552													A	97062749	C	A	97062749	2	1	279	1	0	0	0	0	0	0	0	1	17739	668	24	5		5	ZNF169	9	97062749	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1323935	97062749	44150682	519	143512											
FANCC	2176	broad.mit.edu	37	chr9	98003011	98003011	+	Frame_Shift_Del	DEL	T	T	-													acataagcaccatattagaaTtttttggctttcatctacaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:98003011delT	uc004avh.2	-	4	527	c.265delA	c.(265-267)ATTfs	p.I89fs	FANCC_uc004avi.3_Frame_Shift_Del_p.I89fs|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	89					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				CATATTAGAATTTTTTGGCTT	0.279			D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				-	98003011	T	-	98003011	7	5	279	1	0	1	0	1	0	0	0	0	5664	1493	52	0	1459	0	FANCC	9	98003011	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	940262	98003011	43210420	520	143513											
PTCH1	5727	broad.mit.edu	37	chr9	98238403	98238403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggacgtgagggccacGctggctcctgtgcgcttcag	15	12	1	2	rs2066830	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:98238403G>A	uc004avk.3	-	12	1829	c.1641C>T	c.(1639-1641)AGC>AGT	p.S547S	PTCH1_uc010mro.2_Silent_p.S396S|PTCH1_uc010mrp.2_Silent_p.S396S|PTCH1_uc010mrq.2_Silent_p.S396S|PTCH1_uc004avl.3_Silent_p.S396S|PTCH1_uc010mrr.2_Silent_p.S481S|PTCH1_uc004avm.3_Silent_p.S546S|PTCH1_uc010mrs.1_Silent_p.S215S	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	547	SSD.|Cytoplasmic (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGAGGGCCACGCTGGCTCCTG	0.592									Basal_Cell_Nevus_syndrome				A	98238403	G	A	98238403	2	1	279	1	0	0	0	0	0	0	0	1	12730	1078	38	1		1	PTCH1	9	98238403	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	235392	98238403	42975028	521	143514											
TBC1D2	55357	broad.mit.edu	37	chr9	100961816	100961816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccatgcgcagctgccgCagctgtttcatgcggaaggg	15	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:100961816C>T	uc011lvb.1	-	13	2814	c.2634G>A	c.(2632-2634)CTG>CTA	p.L878L	TBC1D2_uc004ayp.2_Silent_p.L418L|TBC1D2_uc004ayq.2_Silent_p.L867L|TBC1D2_uc004ayr.2_Silent_p.L660L|TBC1D2_uc004ayo.3_3'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	878	Potential.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCAGCTGCCGCAGCTGTTTCA	0.637													T	100961816	C	T	100961816	2	4	279	1	0	0	0	0	0	0	0	1	15605	697	25	2		2	TBC1D2	9	100961816	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2723413	100961816	40251615	522	143515											
ANKS6	203286	broad.mit.edu	37	chr9	101518711	101518711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggactcaccctcatctgTgatggtgccactgctggagc	13	12	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:101518711T>C	uc004ayu.2	-	12	2338	c.2317A>G	c.(2317-2319)ACA>GCA	p.T773A	ANKS6_uc004ayt.2_Missense_Mutation_p.T472A|ANKS6_uc004ayv.1_Missense_Mutation_p.T236A|ANKS6_uc004ayw.1_Missense_Mutation_p.T356A|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	773	SAM.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				CCCTCATCTGTGATGGTGCCA	0.567													C	101518711	T	C	101518711	3	2	279	1	0	0	0	0	1	0	0	0	692	1696	59	3	314	3	ANKS6	9	101518711	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	556895	101518711	39694720	523	143516											
INVS	27130	broad.mit.edu	37	chr9	103054983	103054983	+	Frame_Shift_Del	DEL	G	G	-													tagccgccctggcagtgcccGgggggaggcggtccatgctg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:103054983delG	uc004bap.1	+	14	2656	c.2444delG	c.(2443-2445)CGGfs	p.R815fs	INVS_uc011lve.1_Frame_Shift_Del_p.R719fs|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Frame_Shift_Del_p.R719fs|INVS_uc010mtb.1_Frame_Shift_Del_p.R489fs	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	815					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				GGCAGTGCCCGGGGGGAGGCG	0.587													-	103054983	G	-	103054983	7	5	279	1	0	1	0	1	0	0	0	0	7787	1116	39	0	2494	0	INVS	9	103054983	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1536272	103054983	38158448	524	143517											
LPPR1	54886	broad.mit.edu	37	chr9	104071658	104071658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgggaacatttgtactgGggacctggaagtgatagaaa	13	5	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:104071658G>T	uc004bbb.2	+	5	950	c.551G>T	c.(550-552)GGG>GTG	p.G184V	LPPR1_uc011lvi.1_Missense_Mutation_p.G160V|LPPR1_uc004bbc.2_Missense_Mutation_p.G184V|LPPR1_uc010mtc.2_Missense_Mutation_p.G168V	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	184						integral to membrane	catalytic activity				0						ATTTGTACTGGGGACCTGGAA	0.498													T	104071658	G	T	104071658	3	4	279	1	0	0	0	0	1	0	0	0	8924	1232	43	5	565	5	LPPR1	9	104071658	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1016675	104071658	37141773	525	143518											
ALDOB	229	broad.mit.edu	37	chr9	104193086	104193086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgcagccaggatcccCtttccattggcaacaatgct	7	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:104193086C>A	uc004bbk.2	-	2	166	c.84G>T	c.(82-84)AAG>AAT	p.K28N		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	28					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			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCAGGATCCCCTTTCCATTGG	0.443													A	104193086	C	A	104193086	3	1	279	1	0	0	0	0	1	0	0	0	508	680	24	5	1042	5	ALDOB	9	104193086	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	121428	104193086	37020345	526	143519											
GRIN3A	116443	broad.mit.edu	37	chr9	104432344	104432344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaatgaagtattacctTggggtcatgtattccagaaa	9	5	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:104432344T>C	uc004bbp.1	-	3	2951	c.2350A>G	c.(2350-2352)AAG>GAG	p.K784E	GRIN3A_uc004bbq.1_Missense_Mutation_p.K784E	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	784	Extracellular (Potential).				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			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		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)	AGTATTACCTTGGGGTCATGT	0.383													C	104432344	T	C	104432344	3	2	279	1	0	0	0	0	1	0	0	0	6783	1821	63	3	1025	3	GRIN3A	9	104432344	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	239258	104432344	36781087	527	143520											
IKBKAP	8518	broad.mit.edu	37	chr9	111681561	111681562	+	Frame_Shift_Ins	INS	-	-	A													ggcaaacaacactcacagcaINSaaaaactgtccatccccccg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:111681560_111681561C>CA	uc004bdm.4	-	6	1141_1142	c.621_622G>TG	c.(619-624)tttgctfs	p.F207fs	IKBKAP_uc004bdl.3_5'Flank|IKBKAP_uc011lwc.2_Frame_Shift_Ins_p.F93fs|IKBKAP_uc010mtq.3_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	207					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|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						ACACTCACAGCAAAAAACTGTC	0.371													A	111681562	-	A	111681561	7	5	279	1	0	1	1	0	0	0	0	0	7610	127	5	0	3501	0	IKBKAP	9	111681561	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	7249217	111681561	29531870	528	143521											
PAPPA	5069	broad.mit.edu	37	chr9	119097332	119097332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgccagagaggggagaCctacagccctgccgagcaga	14	13	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:119097332C>T	uc004bjn.2	+	13	3971	c.3590C>T	c.(3589-3591)ACC>ATC	p.T1197I	PAPPA_uc011lxp.1_Missense_Mutation_p.T892I|PAPPA_uc011lxq.1_Missense_Mutation_p.T572I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1197					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AGAGGGGAGACCTACAGCCCT	0.617													T	119097332	C	T	119097332	3	4	279	1	0	0	0	0	1	0	0	0	11432	507	18	4	3640	4	PAPPA	9	119097332	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7415771	119097332	22116099	529	143522											
DAB2IP	153090	broad.mit.edu	37	chr9	124329464	124329464	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggctgggggcccacaCgccatggagcccgactccct	14	17	0	0	rs142520673	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:124329464C>T	uc004bln.2	+	1	66	c.-3C>T	c.(-5--1)CACGC>CATGC			NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform						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			ovary(1)|central_nervous_system(1)	2						GGGGCCCACACGCCATGGAGC	0.582													T	124329464	C	T	124329464	1	4	279	1	0	0	0	0	0	0	0	0	4219	551	19	1		1	DAB2IP	9	124329464	Translation_Start_Site	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	5232132	124329464	16883967	530	143523											
MORN5	254956	broad.mit.edu	37	chr9	124936889	124936889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaaggactataggaaccGctttctaagaaacgcaggta	10	8	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:124936889G>A	uc004blw.2	+	4	484	c.422G>A	c.(421-423)CGC>CAC	p.R141H	MORN5_uc011lyn.1_Missense_Mutation_p.R141H|MORN5_uc011lyo.1_3'UTR	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	141											0						TATAGGAACCGCTTTCTAAGA	0.458													A	124936889	G	A	124936889	3	1	279	1	0	0	0	0	1	0	0	0	9711	1087	38	1	436	1	MORN5	9	124936889	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	607425	124936889	16276542	531	143524											
PTGS1	5742	broad.mit.edu	37	chr9	125152626	125152626	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccaggagctcgtaggTgagcagctgtttcctggatg	13	10	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:125152626T>C	uc004bmg.1	+	10	1579	c.1444_splice	c.e10+2	p.G482_splice	PTGS1_uc011lys.1_Splice_Site_p.G420_splice|PTGS1_uc010mwb.1_Splice_Site_p.G336_splice|PTGS1_uc004bmf.1_Splice_Site_p.G445_splice|PTGS1_uc004bmh.1_Splice_Site_p.G373_splice|PTGS1_uc011lyt.1_Splice_Site_p.G373_splice	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1						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			ovary(1)|skin(1)	2					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)	AGCTCGTAGGTGAGCAGCTGT	0.323													C	125152626	T	C	125152626	5	2	279	1	0	0	0	0	0	0	1	0	12755	1710	59	3	1484	3	PTGS1	9	125152626	Splice_Site	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	215737	125152626	16060805	532	143525											
NR5A1	2516	broad.mit.edu	37	chr9	127265430	127265430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgcttgcgctgcgtcttgtCgatcttgcagctctggctct	12	13	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:127265430C>T	uc004boo.1	-	3	359	c.172G>A	c.(172-174)GAC>AAC	p.D58N		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	58	NR C4-type.|Nuclear receptor.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						TGCGTCTTGTCGATCTTGCAG	0.657													T	127265430	C	T	127265430	3	4	279	1	0	0	0	0	1	0	0	0	10635	884	31	1	1233	1	NR5A1	9	127265430	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2112804	127265430	13948001	533	143526											
ENG	2022	broad.mit.edu	37	chr9	130588851	130588851	+	Frame_Shift_Del	DEL	C	C	-													cagcagcagaggtgatggggCccctctcagctgcccactca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:130588850_130588850GC>G	uc004bsj.4	-	3	875	c.462_462GC>C	c.(460-462)ggcfs	p.G154fs	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Frame_Shift_Del_p.G154fs	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	154					BMP signaling pathway|artery morphogenesis|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						AGGTGATGGGGCCCCTCTCAG	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				-	130588851	C	-	130588851	7	5	279	1	0	1	0	1	0	0	0	0	5117	739	26	0	1589	0	ENG	9	130588851	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	3323421	130588851	10624580	534	143527											
FAM102A	399665	broad.mit.edu	37	chr9	130710444	130710444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcccaccacccttacaCgtcagctgcagggaggaatc	10	15	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:130710444C>T	uc004bsx.1	-	6	601	c.522G>A	c.(520-522)ACG>ACA	p.T174T	FAM102A_uc004bsw.1_Silent_p.T32T|FAM102A_uc004bsy.1_Translation_Start_Site	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	174	Ser-rich.									ovary(1)	1						CACCCTTACACGTCAGCTGCA	0.627													T	130710444	C	T	130710444	2	4	279	1	0	0	0	0	0	0	0	1	5382	523	19	1		1	FAM102A	9	130710444	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	121593	130710444	10502987	535	143528											
NUP214	8021	broad.mit.edu	37	chr9	134103717	134103717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagcgcaggaggattcGggtaagccccctggggaggg	18	11	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134103717G>A	uc004cag.2	+	33	6184	c.6073G>A	c.(6073-6075)GGG>AGG	p.G2025R	NUP214_uc004cah.2_Missense_Mutation_p.G2015R|NUP214_uc004cai.2_Missense_Mutation_p.G1455R|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.G851R	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	2025	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGGAGGATTCGGGTAAGCCCC	0.597			T	DEK|SET|ABL1	AML|T-ALL								A	134103717	G	A	134103717	3	1	279	1	0	0	0	0	1	0	0	0	10762	1130	39	1	6203	1	NUP214	9	134103717	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3393273	134103717	7109714	536	143529											
BAT2L1	84726	broad.mit.edu	37	chr9	134319684	134319684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcgtcttagatctgtcGtatgggccaggaccaagcct	13	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134319684G>A	uc004can.3	+	5	637	c.582G>A	c.(580-582)TCG>TCA	p.S194S	BAT2L1_uc004cam.1_Silent_p.S194S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	194							protein binding				0						TAGATCTGTCGTATGGGCCAG	0.557													A	134319684	G	A	134319684	2	1	279	1	0	0	0	0	0	0	0	1	1320	1132	40	1		1	BAT2L1	9	134319684	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	215967	134319684	6893747	537	143530											
BAT2L1	84726	broad.mit.edu	37	chr9	134330506	134330508	+	In_Frame_Del	DEL	TGA	TGA	-													tctgagaaactgaagttcagTgatgatgaagaggaggaaga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134330506_134330508delTGA	uc004can.3	+	9	1219_1221	c.1164_1166delTGA	c.(1162-1167)AGTGAT>AGT	p.D390del	BAT2L1_uc010mzj.1_5'UTR	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	390							protein binding				0						TGAAGTTCAGTGATGATGAAGAG	0.478													-	134330508	TGA	-	134330506	7	5	279	1	0	1	0	1	0	0	0	0	1320	1693	59	0	1198	0	BAT2L1	9	134330506	In_Frame_Del	DEL	TGA	TCGA-HU-A4H3-01A-21D-A25D-08	10822	134330506	6882925	538	143531											
POMT1	10585	broad.mit.edu	37	chr9	134390826	134390827	+	Frame_Shift_Ins	INS	-	-	C													ttccaggcatgatgttgcagINScccccctgagcccccattca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134390826_134390827insC	uc004cav.2	+	13	1457_1458	c.1255_1256insC	c.(1255-1257)GCCfs	p.A419fs	POMT1_uc004cax.2_Frame_Shift_Ins_p.A397fs|POMT1_uc011mcj.1_Frame_Shift_Ins_p.A175fs|POMT1_uc004cau.2_Frame_Shift_Ins_p.A397fs|POMT1_uc004caw.2_Frame_Shift_Ins_p.A343fs|POMT1_uc011mck.1_Frame_Shift_Ins_p.A280fs|POMT1_uc011mcl.1_Frame_Shift_Ins_p.A245fs|POMT1_uc011mcm.1_Frame_Shift_Ins_p.A367fs|POMT1_uc011mcn.1_Frame_Shift_Ins_p.A122fs	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	419	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGATGTTGCAGCCCCCCTGAGC	0.505													C	134390827	-	C	134390826	7	5	279	1	0	1	1	0	0	0	0	0	12245	971	34	0	1301	0	POMT1	9	134390826	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	60320	134390826	6822605	539	143532	760	2									
POMT1	10585	broad.mit.edu	37	chr9	134390827	134390828	+	Frame_Shift_Ins	INS	-	-	C													tccaggcatgatgttgcagcINSccccctgagcccccattcac							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:134390826_134390827G>GC	uc004cav.3	+	12	1457_1458	c.1255_1256G>GC	c.(1255-1257)gccfs	p.A419fs	POMT1_uc004cax.3_Frame_Shift_Ins_p.A397fs|POMT1_uc011mcj.2_Frame_Shift_Ins_p.A175fs|POMT1_uc004cau.3_Frame_Shift_Ins_p.A397fs|POMT1_uc004caw.3_Frame_Shift_Ins_p.A343fs|POMT1_uc011mck.2_Frame_Shift_Ins_p.A280fs|POMT1_uc011mcl.2_Frame_Shift_Ins_p.A245fs|POMT1_uc011mcm.2_Frame_Shift_Ins_p.A367fs	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	419	MIR 2.				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)		TGATGTTGCAGCCCCCCTGAGC	0.505													C	134390828	-	C	134390827	7	5	279	1	0	1	1	0	0	0	0	0	12245	739	26	0	1302	0	POMT1	9	134390827	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	134390827	6822604	540	143533	760	2									
GTF3C5	9328	broad.mit.edu	37	chr9	135929231	135929231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagataacaggcccctggcGcagcctatggattcgatttg	11	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:135929231G>A	uc004cci.3	+	6	1227	c.890G>A	c.(889-891)CGC>CAC	p.R297H	GTF3C5_uc010mzz.2_Missense_Mutation_p.R172H|GTF3C5_uc004ccj.3_Missense_Mutation_p.R297H	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	297						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGCCCCTGGCGCAGCCTATGG	0.493													A	135929231	G	A	135929231	3	1	279	1	0	0	0	0	1	0	0	0	6876	1087	38	1	912	1	GTF3C5	9	135929231	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1538404	135929231	5284200	541	143534											
RALGDS	5900	broad.mit.edu	37	chr9	136031317	136031317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcttgggctgagggtaCtgtgacctgcaaccaagaag	14	9	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:136031317C>T	uc011mcw.1	-	5	513	c.232G>A	c.(232-234)GTA>ATA	p.V78I	GBGT1_uc004ccx.2_Silent_p.Q18Q|GBGT1_uc010nab.2_Silent_p.Q65Q|GBGT1_uc011mcx.1_Silent_p.Q48Q|GBGT1_uc004ccw.2_Silent_p.Q65Q|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.Q65Q	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:Variant_position_missing_in_Q12967_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGAGGGTACTGTGACCTGC	0.562			T	CIITA	PMBL|Hodgkin Lymphona|								T	136031317	C	T	136031317	3	4	279	1	0	0	0	0	1	0	0	0	13016	564	20	4		4	RALGDS	9	136031317	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	102086	136031317	5182114	542	143535											
SNAPC4	6621	broad.mit.edu	37	chr9	139274297	139274297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagagttacctggggtgCtctgggcacttgaggatgcc	15	9	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139274297C>T	uc004chh.2	-	20	2528	c.2519G>A	c.(2518-2520)AGC>AAC	p.S840N		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	840					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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACCTGGGGTGCTCTGGGCACT	0.597													T	139274297	C	T	139274297	3	4	279	1	0	0	0	0	1	0	0	0	14837	797	28	2	1902	2	SNAPC4	9	139274297	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3242980	139274297	1939134	543	143536											
SNAPC4	6621	broad.mit.edu	37	chr9	139277746	139277746	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggacctgcaccggactCgtctcctctccaggagccgc	12	17	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139277746C>T	uc004chh.2	-	15	1884	c.1875G>A	c.(1873-1875)ACG>ACA	p.T625T		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	625					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				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCACCGGACTCGTCTCCTCTC	0.721													T	139277746	C	T	139277746	2	4	279	1	0	0	0	0	0	0	0	1	14837	871	31	1		1	SNAPC4	9	139277746	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3449	139277746	1935685	544	143537											
UAP1L1	91373	broad.mit.edu	37	chr9	139973715	139973715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggctgcaggtggtggAaaaggcataccccgaggagc	16	9	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139973715A>G	uc010ncb.2	+	5	883	c.851A>G	c.(850-852)GAA>GGA	p.E284G	UAP1L1_uc004cla.3_Missense_Mutation_p.E161G	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	284							nucleotidyltransferase activity			ovary(1)	1	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)		CAGGTGGTGGAAAAGGCATAC	0.711													G	139973715	A	G	139973715	3	3	279	1	0	0	0	0	1	0	0	0	16823	246	9	3	869	3	UAP1L1	9	139973715	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	695969	139973715	1239716	545	143538											
MAN1B1	11253	broad.mit.edu	37	chr9	139990814	139990814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgtggatccccgcccGgaaggagatccgcagaggac	14	15	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:139990814G>A	uc004cld.2	+	4	626	c.591G>A	c.(589-591)CCG>CCA	p.P197P	MAN1B1_uc004clc.2_Silent_p.P98P|MAN1B1_uc011meo.1_Silent_p.P98P|MAN1B1_uc011mep.1_Silent_p.P197P|MAN1B1_uc010ncc.2_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	197	Lumenal (Potential).				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			ovary(1)|central_nervous_system(1)	2	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)		ATCCCCGCCCGGAAGGAGATC	0.597													A	139990814	G	A	139990814	2	1	279	1	0	0	0	0	0	0	0	1	9212	1103	39	1		1	MAN1B1	9	139990814	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	17099	139990814	1222617	546	143539											
COBRA1	25920	broad.mit.edu	37	chr9	140166984	140166984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacgtgcaccggcacgcgCtgcggctcctcattcacctg	11	16	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:140166984C>T	uc004cmm.3	+	12	1716	c.1513C>T	c.(1513-1515)CTG>TTG	p.L505L		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	505					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CCGGCACGCGCTGCGGCTCCT	0.701													T	140166984	C	T	140166984	2	4	279	1	0	0	0	0	0	0	0	1	3655	796	28	2		2	COBRA1	9	140166984	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	176170	140166984	1046447	547	143540											
ARRDC1	92714	broad.mit.edu	37	chr9	140508883	140508883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgccttgccccagtcgGccctgccgggctgcagcctc	12	19	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr9:140508883G>A	uc004cns.2	+	6	825	c.751G>A	c.(751-753)GCC>ACC	p.A251T	ARRDC1_uc004cnt.2_Missense_Mutation_p.A126T|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.A231T|ARRDC1_uc004cnw.2_Missense_Mutation_p.A126T|ARRDC1_uc004cnp.1_Missense_Mutation_p.A251T|ARRDC1_uc004cnq.1_Missense_Mutation_p.A233T|ARRDC1_uc011mfb.1_Missense_Mutation_p.A126T|ARRDC1_uc004cnx.1_Missense_Mutation_p.A126T|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	251											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GCCCCAGTCGGCCCTGCCGGG	0.682													A	140508883	G	A	140508883	3	1	279	1	0	0	0	0	1	0	0	0	982	1203	42	2	773	2	ARRDC1	9	140508883	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	341899	140508883	704548	548	143541											
TUBB8	347688	broad.mit.edu	37	chr10	93397	93397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaaaatggcagccgccGttaggtagcggccgtgacgg	15	12	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:93397G>A	uc001ifi.2	-	4	935	c.935C>T	c.(934-936)ACG>ATG	p.T312M	TUBB8_uc009xhe.2_Missense_Mutation_p.T275M|TUBB8_uc010pzs.1_Missense_Mutation_p.T240M	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	312					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		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)		GGCAGCCGCCGTTAGGTAGCG	0.537													A	93397	G	A	93397	3	1	279	1	0	0	0	0	1	0	0	0	16758	1145	40	1	403	1	TUBB8	10	93397	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		93397	135441350	549	143542											
KLF6	1316	broad.mit.edu	37	chr10	3824017	3824017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcagctccccgggcacGcaaccccacagttgagaagg	14	14	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:3824017G>A	uc001iha.2	-	2	759	c.492C>T	c.(490-492)TGC>TGT	p.C164C	KLF6_uc010qaj.1_Silent_p.C164C|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Silent_p.C164C|KLF6_uc001ihb.2_Silent_p.C164C	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	164					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		CCCCGGGCACGCAACCCCACA	0.627											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	3824017	G	A	3824017	2	1	279	1	0	0	0	0	0	0	0	1	8350	1079	38	1		1	KLF6	10	3824017	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3730620	3824017	131710730	550	143543											
C10orf18	54906	broad.mit.edu	37	chr10	5769037	5769037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatagattttggaggcaaGcagatgggtctgcatgggtt	15	5	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:5769037G>A	uc001iij.2	+	10	1063	c.438G>A	c.(436-438)AAG>AAA	p.K146K		NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	146										ovary(1)|central_nervous_system(1)	2						TTGGAGGCAAGCAGATGGGTC	0.284													A	5769037	G	A	5769037	2	1	279	1	0	0	0	0	0	0	0	1	1596	962	34	2		2	C10orf18	10	5769037	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1945020	5769037	129765710	551	143544											
PRPF18	8559	broad.mit.edu	37	chr10	13639491	13639491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcaagcgtagtgagctcGccaaaaaagaagaggaagca	11	7	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:13639491G>A	uc001imp.2	+	2	248	c.100G>A	c.(100-102)GCC>ACC	p.A34T	PRPF18_uc001imq.2_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	PRP18 pre-mRNA processing factor 18 homolog	34					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1						TAGTGAGCTCGCCAAAAAAGA	0.289													A	13639491	G	A	13639491	3	1	279	1	0	0	0	0	1	0	0	0	12563	1087	38	1	106	1	PRPF18	10	13639491	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	7870454	13639491	121895256	552	143545											
FAM107B	83641	broad.mit.edu	37	chr10	14816397	14816397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacttgaattccgattcGcactgccatttctctctgca	8	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:14816397G>A	uc001ina.1	-	1	500	c.266C>T	c.(265-267)GCG>GTG	p.A89V	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						ATTCCGATTCGCACTGCCATT	0.602													A	14816397	G	A	14816397	3	1	279	1	0	0	0	0	1	0	0	0	5390	1087	38	1	674	1	FAM107B	10	14816397	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1176906	14816397	120718350	553	143546											
TRDMT1	1787	broad.mit.edu	37	chr10	17201173	17201173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgaaagggtaatggcTctgactgaagctttgcaata	13	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:17201173T>C	uc001iop.2	-	7	563	c.515A>G	c.(514-516)GAG>GGG	p.E172G	TRDMT1_uc001ioq.2_Missense_Mutation_p.E148G|TRDMT1_uc001ior.2_Missense_Mutation_p.E126G|TRDMT1_uc001ios.2_Missense_Mutation_p.E101G|TRDMT1_uc009xjt.2_Missense_Mutation_p.E91G|TRDMT1_uc010qcc.1_Missense_Mutation_p.E101G|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Missense_Mutation_p.E89G|TRDMT1_uc009xju.1_RNA	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	172					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						GGGTAATGGCTCTGACTGAAG	0.308													C	17201173	T	C	17201173	3	2	279	1	0	0	0	0	1	0	0	0	16464	1551	54	3	680	3	TRDMT1	10	17201173	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2384776	17201173	118333574	554	143547											
ENKUR	219670	broad.mit.edu	37	chr10	25273749	25273749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttccagcctctgcTtgcggatcttctttggtata	7	11	5	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:25273749T>C	uc001isg.1	-	5	845	c.680A>G	c.(679-681)AAG>AGG	p.K227R	ENKUR_uc001ish.1_Missense_Mutation_p.K165R	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	227						cilium|flagellum	calmodulin binding|SH3 domain binding				0						CAGCCTCTGCTTGCGGATCTT	0.388													C	25273749	T	C	25273749	3	2	279	1	0	0	0	0	1	0	0	0	5120	1609	56	3	98	3	ENKUR	10	25273749	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	8072576	25273749	110260998	555	143548											
ARMC4	55130	broad.mit.edu	37	chr10	28233746	28233746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgacagagccactcaccTtacatttgacttcatcggtt	8	11	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:28233746T>C	uc009xky.2	-	11	1630	c.1532A>G	c.(1531-1533)AAG>AGG	p.K511R	ARMC4_uc010qds.1_Missense_Mutation_p.K36R|ARMC4_uc010qdt.1_Missense_Mutation_p.K203R|ARMC4_uc001itz.2_Missense_Mutation_p.K511R|ARMC4_uc010qdu.1_Missense_Mutation_p.K203R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	511	ARM 1.						binding			ovary(4)|skin(2)	6						GCCACTCACCTTACATTTGAC	0.493													C	28233746	T	C	28233746	3	2	279	1	0	0	0	0	1	0	0	0	953	1623	56	3	1642	3	ARMC4	10	28233746	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2959997	28233746	107301001	556	143549											
LYZL1	84569	broad.mit.edu	37	chr10	29599965	29599965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagacctgtccgagtggAaaaaaggctgtgaggtttcc	14	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:29599965A>G	uc001iul.2	+	5	619	c.562A>G	c.(562-564)AAA>GAA	p.K188E		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	142					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Breast(68;0.203)				GTCCGAGTGGAAAAAAGGCTG	0.512													G	29599965	A	G	29599965	3	3	279	1	0	0	0	0	1	0	0	0	9131	247	9	3	580	3	LYZL1	10	29599965	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1366219	29599965	105934782	557	143550											
SVIL	6840	broad.mit.edu	37	chr10	29747513	29747513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatctgattggaaacttcCgtgtcctagagaagaggagg	14	6	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:29747513C>T	uc001iut.1	-	37	7161	c.6408G>A	c.(6406-6408)ACG>ACA	p.T2136T	LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.T1050T|SVIL_uc001iuu.1_Silent_p.T1710T	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	2136					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGGAAACTTCCGTGTCCTAGA	0.542													T	29747513	C	T	29747513	2	4	279	1	0	0	0	0	0	0	0	1	15418	639	23	1		1	SVIL	10	29747513	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	147548	29747513	105787234	558	143551											
SVIL	6840	broad.mit.edu	37	chr10	29813557	29813557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccaagcttagagtggaGgaatcaggttctccttgctc	12	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:29813557G>A	uc001iut.1	-	14	3183	c.2430C>T	c.(2428-2430)TCC>TCT	p.S810S	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.S384S	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	810					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TTAGAGTGGAGGAATCAGGTT	0.468													A	29813557	G	A	29813557	2	1	279	1	0	0	0	0	0	0	0	1	15418	987	35	4		4	SVIL	10	29813557	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	66044	29813557	105721190	559	143552											
ZNF438	220929	broad.mit.edu	37	chr10	31133959	31133959	+	Frame_Shift_Del	DEL	T	T	-													gtatttaaaatagcccacagTttggaagggtcctcacagtt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:31133959delT	uc010qdz.1	-	8	2853	c.2418delA	c.(2416-2418)AAAfs	p.K806fs	ZNF438_uc001ivn.2_Frame_Shift_Del_p.K757fs|ZNF438_uc010qdy.1_Frame_Shift_Del_p.K796fs|ZNF438_uc001ivo.3_Frame_Shift_Del_p.K370fs|ZNF438_uc009xlg.2_Frame_Shift_Del_p.K806fs|ZNF438_uc001ivp.3_Frame_Shift_Del_p.K796fs|ZNF438_uc010qea.1_Frame_Shift_Del_p.K806fs|ZNF438_uc010qeb.1_Frame_Shift_Del_p.K806fs	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TAGCCCACAGTTTGGAAGGGT	0.512													-	31133959	T	-	31133959	7	5	279	1	0	1	0	1	0	0	0	0	17907	1722	60	0	72	0	ZNF438	10	31133959	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	1320402	31133959	104400788	560	143553											
ZEB1	6935	broad.mit.edu	37	chr10	31809766	31809766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatccagtcgctacaaaCagttgtaaaagtgaaaagtt	8	6	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:31809766C>T	uc001ivs.3	+	7	1566	c.1503C>T	c.(1501-1503)AAC>AAT	p.N501N	ZEB1_uc001ivr.3_Silent_p.N283N|ZEB1_uc010qee.1_Silent_p.N283N|ZEB1_uc010qef.1_Silent_p.N283N|ZEB1_uc009xlj.1_Silent_p.N427N|ZEB1_uc010qeg.1_Silent_p.N360N|ZEB1_uc009xlk.1_Silent_p.N283N|ZEB1_uc001ivt.3_Silent_p.N283N|ZEB1_uc001ivu.3_Silent_p.N502N|ZEB1_uc001ivv.3_Silent_p.N481N|ZEB1_uc010qeh.1_Silent_p.N434N|ZEB1_uc009xlo.1_Silent_p.N484N|ZEB1_uc009xlp.2_Silent_p.N485N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	501					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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TCGCTACAAACAGTTGTAAAA	0.378													T	31809766	C	T	31809766	2	4	279	1	0	0	0	0	0	0	0	1	17620	477	17	4		4	ZEB1	10	31809766	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	675807	31809766	103724981	561	143554											
ZEB1	6935	broad.mit.edu	37	chr10	31815922	31815922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggaagaggatgaagaCagtgaaaaagaggaagagga	16	2	0	6			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:31815922C>T	uc001ivs.3	+	9	3168	c.3105C>T	c.(3103-3105)GAC>GAT	p.D1035D	ZEB1_uc001ivr.3_Silent_p.D817D|ZEB1_uc010qee.1_Silent_p.D817D|ZEB1_uc010qef.1_Silent_p.D817D|ZEB1_uc001ivt.3_Silent_p.D817D|ZEB1_uc001ivu.3_Silent_p.D1036D|ZEB1_uc001ivv.3_Silent_p.D1015D|ZEB1_uc010qeh.1_Silent_p.D968D|ZEB1_uc009xlp.2_Silent_p.D1019D	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1035	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			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				AGGATGAAGACAGTgaaaaag	0.299													T	31815922	C	T	31815922	2	4	279	1	0	0	0	0	0	0	0	1	17620	477	17	4		4	ZEB1	10	31815922	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6156	31815922	103718825	562	143555											
PARD3	56288	broad.mit.edu	37	chr10	34626308	34626308	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catactctgacgtccaaatcCttctcgttgaaaagcaagaa	6	11	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:34626308C>A	uc010qej.1	-	17	2464	c.2464G>T	c.(2464-2466)GGA>TGA	p.G822*	PARD3_uc010qek.1_Nonsense_Mutation_p.G819*|PARD3_uc010qel.1_Nonsense_Mutation_p.G822*|PARD3_uc010qem.1_Nonsense_Mutation_p.G806*|PARD3_uc010qen.1_Nonsense_Mutation_p.G806*|PARD3_uc010qeo.1_Nonsense_Mutation_p.G806*|PARD3_uc010qep.1_Nonsense_Mutation_p.G762*|PARD3_uc010qeq.1_Nonsense_Mutation_p.G762*|PARD3_uc001ixo.1_Nonsense_Mutation_p.G536*|PARD3_uc001ixp.1_Nonsense_Mutation_p.G684*|PARD3_uc001ixq.1_Nonsense_Mutation_p.G806*|PARD3_uc001ixr.1_Nonsense_Mutation_p.G819*|PARD3_uc001ixt.1_Nonsense_Mutation_p.G640*|PARD3_uc001ixu.1_Nonsense_Mutation_p.G765*|PARD3_uc001ixs.1_Nonsense_Mutation_p.G475*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	822	Interacts with PRKCZ (By similarity).				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			ovary(1)	1		Breast(68;0.0707)				CGTCCAAATCCTTCTCGTTGA	0.343													A	34626308	C	A	34626308	4	1	279	1	0	0	0	0	0	1	0	0	11443	690	24	5	1677	5	PARD3	10	34626308	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2810386	34626308	100908439	563	143556											
GDF10	2662	broad.mit.edu	37	chr10	48438501	48438501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcgaccatgtcctgggcGctggggcccaacgtggcggc	16	14	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:48438501G>A	uc001jfb.2	-	1	666	c.210C>T	c.(208-210)AGC>AGT	p.S70S	GDF10_uc009xnp.2_Silent_p.S70S|GDF10_uc009xnq.1_Silent_p.S70S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	70					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						TGTCCTGGGCGCTGGGGCCCA	0.741													A	48438501	G	A	48438501	2	1	279	1	0	0	0	0	0	0	0	1	6311	1078	38	1		1	GDF10	10	48438501	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	13812193	48438501	87096246	564	143557											
AGAP7	653268	broad.mit.edu	37	chr10	51465445	51465445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccttggataggccatcGcttttagagctggagatggg	14	7	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:51465445G>A	uc001jio.2	-	7	1137	c.1011C>T	c.(1009-1011)AGC>AGT	p.S337S	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	337	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						ATAGGCCATCGCTTTTAGAGC	0.542													A	51465445	G	A	51465445	2	1	279	1	0	0	0	0	0	0	0	1	373	1078	38	1		1	AGAP7	10	51465445	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3026944	51465445	84069302	565	143558											
SGMS1	259230	broad.mit.edu	37	chr10	52067830	52067830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtgtagtggtcatgcGctaagagaatacagaagatt	11	7	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:52067830G>A	uc001jje.2	-	10	1928	c.974C>T	c.(973-975)GCG>GTG	p.A325V	SGMS1_uc010qhk.1_Missense_Mutation_p.A156V	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	331	Cytoplasmic (Potential).				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			ovary(1)|kidney(1)	2						GTGGTCATGCGCTAAGAGAAT	0.502													A	52067830	G	A	52067830	3	1	279	1	0	0	0	0	1	0	0	0	14214	1087	38	1	275	1	SGMS1	10	52067830	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	602385	52067830	83466917	566	143559											
ZNF365	22891	broad.mit.edu	37	chr10	64159485	64159485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcctggggtttggccgCaaaggcaacatcaggcccaa	13	12	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:64159485C>T	uc001jly.3	+	5	1268	c.1206C>T	c.(1204-1206)CGC>CGT	p.R402R	ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.R387R|ZNF365_uc001jma.3_RNA	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform A	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTTTGGCCGCAAAGGCAACA	0.537													T	64159485	C	T	64159485	2	4	279	1	0	0	0	0	0	0	0	1	17866	697	25	2		2	ZNF365	10	64159485	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	12091655	64159485	71375262	567	143560											
JMJD1C	221037	broad.mit.edu	37	chr10	64974641	64974641	+	Frame_Shift_Del	DEL	T	T	-													gatcccagggaggctggctaTtttttagggtctcttctcct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:64974641delT	uc001jmn.2	-	8	1586	c.1286delA	c.(1285-1287)AATfs	p.N429fs	JMJD1C_uc001jml.2_Frame_Shift_Del_p.N210fs|JMJD1C_uc001jmm.2_Frame_Shift_Del_p.N141fs|JMJD1C_uc010qiq.1_Frame_Shift_Del_p.N247fs|JMJD1C_uc009xpi.2_Frame_Shift_Del_p.N247fs|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Frame_Shift_Del_p.N141fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	429					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGGCTGGCTATTTTTTAGGGT	0.363													-	64974641	T	-	64974641	7	5	279	1	0	1	0	1	0	0	0	0	7950	1493	52	0	6412	0	JMJD1C	10	64974641	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	815156	64974641	70560106	568	143561											
HKDC1	80201	broad.mit.edu	37	chr10	70987067	70987068	+	Frame_Shift_Ins	INS	-	-	CC													gcctggcaaaggacaccaacINScccacggctgcagtgaagat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:70987066_70987067A>ACC	uc001jpf.4	+	1	300_301	c.167_168A>ACC	c.(166-168)aacfs	p.N56fs		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	56					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGACACCAACCCCACGGCTG	0.599													CC	70987068	-	CC	70987067	7	5	279	1	0	1	1	0	0	0	0	0	7193	506	18	0	174	0	HKDC1	10	70987067	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	6012426	70987067	64547680	569	143562											
AIFM2	84883	broad.mit.edu	37	chr10	71874701	71874701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaggcctggagaggccgCtgcttcacagagttgacgat	14	9	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:71874701C>T	uc010qjg.1	-	7	958	c.945G>A	c.(943-945)CAG>CAA	p.Q315Q	AIFM2_uc001jqp.1_Silent_p.Q315Q	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	315					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						GGAGAGGCCGCTGCTTCACAG	0.562													T	71874701	C	T	71874701	2	4	279	1	0	0	0	0	0	0	0	1	427	796	28	2		2	AIFM2	10	71874701	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	887634	71874701	63660046	570	143563											
C10orf54	64115	broad.mit.edu	37	chr10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-													tccggggcctggaggagacaGgggggtgctgggctccgaaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:73511467delG	uc001jsd.2	-	6	997	c.856delC	c.(856-858)CTGfs	p.L286fs	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Frame_Shift_Del_p.L154fs|C10orf54_uc009xqm.2_Frame_Shift_Del_p.L124fs	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	286	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GGAGGAGACAGGGGGGTGCTG	0.617													-	73511467	G	-	73511467	7	5	279	1	0	1	0	1	0	0	0	0	1607	991	35	0	87	0	C10orf54	10	73511467	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1636766	73511467	62023280	571	143564											
DNAJB12	54788	broad.mit.edu	37	chr10	74114697	74114697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagggagggggaggccgggcGagcgaagggctgcgccaccc	21	12	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:74114697G>T	uc010qjv.1	-	1	211	c.61C>A	c.(61-63)CGC>AGC	p.R21S	DNAJB12_uc001jsz.2_Missense_Mutation_p.R21S|DNAJB12_uc001jta.2_Missense_Mutation_p.R21S	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	Error:Variant_position_missing_in_Q9NXW2_after_alignment					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GAGGCCGGGCGAGCGAAGGGC	0.672													T	74114697	G	T	74114697	3	4	279	1	0	0	0	0	1	0	0	0	4617	1058	37	5	1200	5	DNAJB12	10	74114697	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	603230	74114697	61420050	572	143565											
AGAP11	119385	broad.mit.edu	37	chr10	88769420	88769420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggacagccatcctgctgCtggcacatggctcccgtgag	13	14	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:88769420C>T	uc001kee.2	+	12	2615	c.1411C>T	c.(1411-1413)CTG>TTG	p.L471L	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	471					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CATCCTGCTGCTGGCACATGG	0.662													T	88769420	C	T	88769420	2	4	279	1	0	0	0	0	0	0	0	1	367	796	28	2		2	AGAP11	10	88769420	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	14654723	88769420	46765327	573	143566											
HTR7	3363	broad.mit.edu	37	chr10	92617113	92617113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttcttgacgaagcacaCggagatcaccaccaggcagt	11	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:92617113C>T	uc001kha.2	-	1	559	c.316G>A	c.(316-318)GTG>ATG	p.V106M	HTR7_uc001kgz.2_Missense_Mutation_p.V106M|HTR7_uc001khb.2_Missense_Mutation_p.V106M	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	106	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ACGAAGCACACGGAGATCACC	0.607													T	92617113	C	T	92617113	3	4	279	1	0	0	0	0	1	0	0	0	7452	536	19	1	1143	1	HTR7	10	92617113	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3847693	92617113	42917634	574	143567											
ZDHHC16	84287	broad.mit.edu	37	chr10	99211554	99211554	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctagtacagcgctggcgctAcggcaaggtctgcctgcgct	13	13	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:99211554A>T	uc001knj.2	+	3	471	c.122A>T	c.(121-123)TAC>TTC	p.Y41F	ZDHHC16_uc001knp.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knk.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knl.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knm.2_Missense_Mutation_p.Y41F|ZDHHC16_uc001knn.2_Missense_Mutation_p.Y41F|ZDHHC16_uc010qow.1_Missense_Mutation_p.Y41F|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.Y41F|ZDHHC16_uc009xvr.2_Missense_Mutation_p.Y41F	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	41	Cytoplasmic (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGCTGGCGCTACGGCAAGGTC	0.642													T	99211554	A	T	99211554	3	4	279	1	0	0	0	0	1	0	0	0	17603	391	14	5	124	5	ZDHHC16	10	99211554	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	6594441	99211554	36323193	575	143568											
SEC31B	25956	broad.mit.edu	37	chr10	102265915	102265915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccgagggcaccactgcAcatcaaagcaccagctgctc	10	16	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:102265915A>G	uc001krc.1	-	9	1028	c.926T>C	c.(925-927)GTG>GCG	p.V309A	SEC31B_uc010qpo.1_Missense_Mutation_p.V308A|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.V312A|SEC31B_uc009xwn.1_Missense_Mutation_p.V309A|SEC31B_uc009xwo.1_Missense_Mutation_p.V309A|SEC31B_uc010qpq.1_Missense_Mutation_p.V152A	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	309	WD 6.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCACCACTGCACATCAAAGCA	0.512													G	102265915	A	G	102265915	3	3	279	1	0	0	0	0	1	0	0	0	13999	159	6	3	2685	3	SEC31B	10	102265915	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	3054361	102265915	33268832	576	143569											
DPCD	25911	broad.mit.edu	37	chr10	103360978	103360978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctatcttcatgcgcaagGacaccaagatgagtttccag	9	11	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:103360978G>A	uc001ktn.2	+	4	294	c.289G>A	c.(289-291)GAC>AAC	p.D97N	hsa-mir-3158-1|MI0014186_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	97							protein binding			skin(1)	1						CATGCGCAAGGACACCAAGAT	0.547													A	103360978	G	A	103360978	3	1	279	1	0	0	0	0	1	0	0	0	4711	1174	41	4	303	4	DPCD	10	103360978	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1095063	103360978	32173769	577	143570											
FBXL15	79176	broad.mit.edu	37	chr10	104181683	104181683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgcggaatccgcagcTgcggagtgtggcgttgggcg	20	10	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:104181683T>C	uc001kvk.2	+	3	1663	c.347T>C	c.(346-348)CTG>CCG	p.L116P	PSD_uc001kvg.1_5'Flank|PSD_uc001kvh.1_5'Flank|PSD_uc009xxd.1_5'Flank|PSD_uc001kvi.1_5'Flank|FBXL15_uc001kvj.1_Missense_Mutation_p.L116P|FBXL15_uc001kvl.1_Missense_Mutation_p.L203P	NM_024326	NP_077302	Q9H469	FXL15_HUMAN	F-box and leucine-rich repeat protein 15	116	Interaction with SMURF1.				bone mineralization|dorsal/ventral pattern formation|G2/M transition of mitotic cell cycle|positive regulation of BMP signaling pathway|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		AATCCGCAGCTGCGGAGTGTG	0.721													C	104181683	T	C	104181683	3	2	279	1	0	0	0	0	1	0	0	0	5711	1580	55	3	357	3	FBXL15	10	104181683	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	820705	104181683	31353064	578	143571											
TAF5	6877	broad.mit.edu	37	chr10	105138238	105138238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgggatgccgcgtagTaagcaacagatagatgcgat	13	6	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:105138238T>C	uc001kwv.2	+	3	1067	c.1044T>C	c.(1042-1044)AGT>AGC	p.S348S	TAF5_uc010qqq.1_Silent_p.S348S	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	348					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			ovary(2)	2		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)		TGCCGCGTAGTAAGCAACAGA	0.433													C	105138238	T	C	105138238	2	2	279	1	0	0	0	0	0	0	0	1	15525	1635	57	3		3	TAF5	10	105138238	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	956555	105138238	30396509	579	143572											
C10orf79	80217	broad.mit.edu	37	chr10	105953694	105953694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggattccttatcatataCgctgatgaagtagaccgagc	11	8	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:105953694C>T	uc001kxw.2	-	11	1488	c.1372G>A	c.(1372-1374)GTA>ATA	p.V458I	C10orf79_uc001kxx.3_Missense_Mutation_p.V459I|C10orf79_uc001kxy.1_Missense_Mutation_p.V459I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	458	WD 7.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTATCATATACGCTGATGAAG	0.552													T	105953694	C	T	105953694	3	4	279	1	0	0	0	0	1	0	0	0	1618	536	19	1	3737	1	C10orf79	10	105953694	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	815456	105953694	29581053	580	143573											
SORCS1	114815	broad.mit.edu	37	chr10	108923879	108923879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcccaggctcctgctgccCtccatctcttagcactcccc	6	20	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:108923879C>A	uc001kym.2	-	1	414	c.406G>T	c.(406-408)GGG>TGG	p.G136W	SORCS1_uc001kyl.2_Missense_Mutation_p.G136W|SORCS1_uc009xxs.2_Missense_Mutation_p.G136W|SORCS1_uc001kyn.1_Missense_Mutation_p.G136W|SORCS1_uc001kyo.2_Missense_Mutation_p.G136W	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	136	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTGCTGCCCTCCATCTCTT	0.687													A	108923879	C	A	108923879	3	1	279	1	0	0	0	0	1	0	0	0	14930	681	24	5	3438	5	SORCS1	10	108923879	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2970185	108923879	26610868	581	143574											
NRAP	4892	broad.mit.edu	37	chr10	115348832	115348832	+	Frame_Shift_Del	DEL	C	C	-													tccagcctccactgcttctgCcccccgctgctgaaatcaaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:115348831_115348831GC>G	uc001lal.3	-	41	5263	c.5099_5099GC>C	c.(5098-5100)gcafs	p.A1700fs	HABP2_uc021pyr.1_3'UTR|HABP2_uc001lai.4_3'UTR|NRAP_uc009xyb.3_Frame_Shift_Del_p.A452fs|NRAP_uc001laj.3_Frame_Shift_Del_p.A1699fs|NRAP_uc001lak.3_Frame_Shift_Del_p.A1664fs	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1699						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)		CACTGCTTCTGCCCCCCGCTG	0.572													-	115348832	C	-	115348832	7	5	279	1	0	1	0	1	0	0	0	0	10638	739	26	0	101	0	NRAP	10	115348832	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	6424953	115348832	20185915	582	143575											
FAM160B1	57700	broad.mit.edu	37	chr10	116603660	116603660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctcagtcagtggatcCgttagatattgaaaccgtgg	10	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:116603660C>T	uc001lcb.2	+	7	1312	c.977C>T	c.(976-978)CCG>CTG	p.P326L	FAM160B1_uc001lcc.2_Missense_Mutation_p.P326L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	326										lung(1)	1						TCAGTGGATCCGTTAGATATT	0.458													T	116603660	C	T	116603660	3	4	279	1	0	0	0	0	1	0	0	0	5470	652	23	1	1003	1	FAM160B1	10	116603660	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1254828	116603660	18931087	583	143576											
HSPA12A	259217	broad.mit.edu	37	chr10	118440716	118440716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtaaccggatctgatggActgtcaggtctacggtgcca	13	11	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:118440716A>C	uc001lct.2	-	9	1079	c.974T>G	c.(973-975)GTC>GGC	p.V325G	HSPA12A_uc001lcu.2_Missense_Mutation_p.V242G	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	325							ATP binding			ovary(1)	1				all cancers(201;0.0158)		GATCTGATGGACTGTCAGGTC	0.502													C	118440716	A	C	118440716	3	2	279	1	0	0	0	0	1	0	0	0	7404	275	10	5	1069	5	HSPA12A	10	118440716	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1837056	118440716	17094031	584	143577											
CPXM2	119587	broad.mit.edu	37	chr10	125506321	125506321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccccgcagcttcagccGcctggctggcaggctgacgg	14	17	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:125506321G>A	uc001lhk.1	-	14	2555	c.2230C>T	c.(2230-2232)CGG>TGG	p.R744W	CPXM2_uc001lhj.2_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	744					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R744Q(1)		ovary(2)	2		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)		AGCTTCAGCCGCCTGGCTGGC	0.577													A	125506321	G	A	125506321	3	1	279	1	0	0	0	0	1	0	0	0	3838	1086	38	1	44	1	CPXM2	10	125506321	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	7065605	125506321	10028426	585	143578											
C10orf137	26098	broad.mit.edu	37	chr10	127426891	127426891	+	Frame_Shift_Del	DEL	A	A	-													aatctgtcgatagcagcatcAaaaaagaaagcgaccttcca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:127426890_127426890CA>C	uc001liq.1	+	14	2150	c.1857_1857CA>C	c.(1855-1857)atcfs	p.I619fs	C10orf137_uc001lin.3_Frame_Shift_Del_p.I585fs|C10orf137_uc001lip.1_Frame_Shift_Del_p.I323fs|C10orf137_uc001lio.1_Frame_Shift_Del_p.I585fs|C10orf137_uc001lir.3_Frame_Shift_Del_p.I113fs|C10orf137_uc001lis.1_5'Flank	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	619					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)				ATAGCAGCATCAAAAAAGAAA	0.423													-	127426891	A	-	127426891	7	5	279	1	0	1	0	1	0	0	0	0	1594	131	5	0	1810	0	C10orf137	10	127426891	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	1920570	127426891	8107856	586	143579											
PTPRE	5791	broad.mit.edu	37	chr10	129847931	129847931	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttcgggaggagttcaacGtgagtgtggggagggctctc	18	6	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr10:129847931G>A	uc001lkb.2	+	6	699	c.420_splice	c.e6+1	p.N140_splice	PTPRE_uc009yat.2_Splice_Site_p.N151_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.N140_splice|PTPRE_uc001lkc.1_Splice_Site|PTPRE_uc001lkd.2_Splice_Site_p.N82_splice|PTPRE_uc010quq.1_Splice_Site_p.N41_splice	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E						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			ovary(1)	1		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)				GGAGTTCAACGTGAGTGTGGG	0.547													A	129847931	G	A	129847931	5	1	279	1	0	0	0	0	0	0	1	0	12800	1159	40	1	474	1	PTPRE	10	129847931	Splice_Site	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2421040	129847931	5686816	587	143580											
BET1L	51272	broad.mit.edu	37	chr11	205421	205421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgccattgtggaaaagcGcttcacgctccctgtaagca	9	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:205421G>A	uc001loe.2	-	4	318	c.217C>T	c.(217-219)CGC>TGC	p.R73C	BET1L_uc001lod.2_3'UTR	NM_001098787	NP_001092257	Q9NYM9	BET1L_HUMAN	blocked early in transport 1 homolog (S.	73	Cytoplasmic (Potential).|t-SNARE coiled-coil homology.				protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity				0		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGGAAAAGCGCTTCACGCTC	0.517													A	205421	G	A	205421	3	1	279	1	0	0	0	0	1	0	0	0	1409	1087	38	1	122	1	BET1L	11	205421	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		205421	134801095	588	143581											
NLRP6	171389	broad.mit.edu	37	chr11	281297	281297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcggggtgcccaggacCgcggctggcggcgttgggac	21	12	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:281297C>T	uc010qvs.1	+	4	1563	c.1563C>T	c.(1561-1563)ACC>ACT	p.T521T	NLRP6_uc010qvt.1_Silent_p.T521T	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	521						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		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)		TGCCCAGGACCGCGGCTGGCG	0.672													T	281297	C	T	281297	2	4	279	1	0	0	0	0	0	0	0	1	10481	639	23	1		1	NLRP6	11	281297	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	75876	281297	134725219	589	143582											
C11orf35	256329	broad.mit.edu	37	chr11	555902	555902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcggggccggagtctcgCggcgtgggatccggtgctca	17	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:555902C>T	uc001lpx.2	-	12	1469	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	uc001lpy.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	469										pancreas(1)	1		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)		CGGAGTCTCGCGGCGTGGGAT	0.771													T	555902	C	T	555902	3	4	279	1	0	0	0	0	1	0	0	0	1638	768	27	1	510	1	C11orf35	11	555902	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	274605	555902	134450614	590	143583											
DEAF1	10522	broad.mit.edu	37	chr11	687963	687963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgttccggcaccgtacGggcagctcactgtcgtacac	11	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:687963G>A	uc001lqq.1	-	4	1305	c.612C>T	c.(610-612)CCC>CCT	p.P204P	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	204	SAND.				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|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		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)		GGCACCGTACGGGCAGCTCAC	0.552													A	687963	G	A	687963	2	1	279	1	0	0	0	0	0	0	0	1	4380	1103	39	1		1	DEAF1	11	687963	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	132061	687963	134318553	591	143584											
MUC6	4588	broad.mit.edu	37	chr11	1026400	1026401	+	Frame_Shift_Ins	INS	-	-	G													aactcacatgggcactcctcINSggggggcacacactgcccgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1026400_1026401insG	uc001lsw.2	-	20	2523_2524	c.2472_2473insC	c.(2470-2475)CCCGAGfs	p.P824fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	824_825					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GGGCACTCCTCGGGGGGCACAC	0.649													G	1026401	-	G	1026400	7	5	279	1	0	1	1	0	0	0	0	0	9980	893	31	0	4902	0	MUC6	11	1026400	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	338437	1026400	133980116	592	143585	761	2									
MUC6	4588	broad.mit.edu	37	chr11	1026401	1026402	+	Frame_Shift_Ins	INS	-	-	G													actcacatgggcactcctcgINSgggggcacacactgcccgtc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1026400_1026401C>CG	uc001lsw.2	-	19	2523_2524	c.2472_2473G>CG	c.(2470-2475)cccgagfs	p.P824fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	824					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.E825fs*6(3)		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)		GGGCACTCCTCGGGGGGCACAC	0.649													G	1026402	-	G	1026401	7	5	279	1	0	1	1	0	0	0	0	0	9980	1103	39	0	4903	0	MUC6	11	1026401	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	1026401	133980115	593	143586	761	2									
MUC5B	727897	broad.mit.edu	37	chr11	1262736	1262736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagggcacttatgccaGcagcctaaggacatagagtg	14	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1262736G>A	uc009ycr.1	+	47	6831	c.6705G>A	c.(6703-6705)CAG>CAA	p.Q2235Q	MUC5B_uc001ltb.2_Silent_p.Q1545Q	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1542	7 X Cys-rich subdomain repeats.|Cys-rich subdomain 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		ACTTATGCCAGCAGCCTAAGG	0.582													A	1262736	G	A	1262736	2	1	279	1	0	0	0	0	0	0	0	1	9979	962	34	2		2	MUC5B	11	1262736	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	236335	1262736	133743780	594	143587											
MUC5B	727897	broad.mit.edu	37	chr11	1271141	1271141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagaacagaccaccacacCcgtggccaccatgtccacaa	6	19	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1271141C>A	uc009ycr.1	+	51	14576	c.14450C>A	c.(14449-14451)CCC>CAC	p.P4817H	MUC5B_uc001ltb.2_Missense_Mutation_p.P4347H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4344	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		ACCACCACACCCGTGGCCACC	0.627													A	1271141	C	A	1271141	3	1	279	1	0	0	0	0	1	0	0	0	9979	623	22	5	13162	5	MUC5B	11	1271141	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8405	1271141	133735375	595	143588											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605953	1605953	+	Frame_Shift_Del	DEL	C	C	-													agcctccacaggagccacagCcccccttggagcccccacaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1605952_1605952GC>G	uc001ltu.1	-	0	562	c.528_528GC>C	c.(526-528)ggcfs	p.G176fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	176	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)		AGGAGCCACAGCCCCCCTTGG	0.682													-	1605953	C	-	1605953	7	5	279	1	0	1	0	1	0	0	0	0	8558	739	26	0	313	0	KRTAP5-1	11	1605953	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	334812	1605953	133400563	596	143589											
TNNI2	7136	broad.mit.edu	37	chr11	1862085	1862085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgccaagatcgatgcgGctgaagaggagaagtacgac	14	9	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:1862085G>A	uc010qxe.1	+	4	245	c.223G>A	c.(223-225)GCT>ACT	p.A75T	TNNI2_uc010qxc.1_Missense_Mutation_p.A73T|TNNI2_uc010qxd.1_Missense_Mutation_p.A73T	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	75					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		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)		GATCGATGCGGCTGAAGAGGA	0.527													A	1862085	G	A	1862085	3	1	279	1	0	0	0	0	1	0	0	0	16324	1203	42	2	256	2	TNNI2	11	1862085	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	256132	1862085	133144431	597	143590											
TRIM6	117854	broad.mit.edu	37	chr11	5632278	5632278	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcaaaatcacagtgcTtactccaggtatcagcctca	6	12	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:5632278T>G	uc001mbc.1	+	8	1305	c.1173T>G	c.(1171-1173)GCT>GCG	p.A391A	HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Silent_p.A365A|TRIM6_uc010qzj.1_Silent_p.A216A|TRIM6_uc001mbe.2_Silent_p.A216A|TRIM6_uc010qzk.1_Silent_p.A216A|TRIM6_uc010qzl.1_Silent_p.A216A|TRIM6_uc001mbd.2_Silent_p.A419A|TRIM6_uc001mbg.1_Silent_p.A216A|TRIM6_uc009yep.1_3'UTR	NM_058166	NP_477514	Q9C030	TRIM6_HUMAN	tripartite motif-containing 6 isoform 2	391	B30.2/SPRY.				protein trimerization	cytoplasm	zinc ion binding				0		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCACAGTGCTTACTCCAGGT	0.478													G	5632278	T	G	5632278	2	3	279	1	0	0	0	0	0	0	0	1	16530	1596	56	5		5	TRIM6	11	5632278	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3770193	5632278	129374238	598	143591											
DNHD1	144132	broad.mit.edu	37	chr11	6524012	6524012	+	Frame_Shift_Del	DEL	A	A	-													tgactatgaagttcccagggAaaaggccttccaaaagagca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:6524011_6524011GA>G	uc001mdw.4	+	3	1339	c.775_775GA>G	c.(775-777)gaafs	p.E259fs	DNHD1_uc001mdp.3_Frame_Shift_Del_p.E259fs	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	259					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)		AGTTCCCAGGGAAAAGGCCTT	0.488													-	6524012	A	-	6524012	7	5	279	1	0	1	0	1	0	0	0	0	4668	246	9	0	782	0	DNHD1	11	6524012	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	891734	6524012	128482504	599	143592											
EIF4G2	1982	broad.mit.edu	37	chr11	10823308	10823308	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgactctggttatggtagAgctggcttagcccctatttc	10	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:10823308A>T	uc001mjc.2	-	14	1730	c.1313T>A	c.(1312-1314)CTC>CAC	p.L438H	EIF4G2_uc001mjb.2_Missense_Mutation_p.L232H|EIF4G2_uc009ygf.2_Missense_Mutation_p.L232H|EIF4G2_uc001mjd.2_Intron|EIF4G2_uc001mjf.1_Intron|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	438					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTATGGTAGAGCTGGCTTAG	0.448													T	10823308	A	T	10823308	3	4	279	1	0	0	0	0	1	0	0	0	5037	304	11	5	1446	5	EIF4G2	11	10823308	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	4299296	10823308	124183208	600	143593											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190949	17190949	+	Frame_Shift_Del	DEL	T	T	-													agtaactggtaatacaggtgTttttttagtctcgaaactgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:17190948_17190948GT>G	uc001mmq.4	-	0	406	c.341_341AC>C	c.(340-342)acafs	p.T114fs	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Frame_Shift_Del_p.T114fs|PIK3C2A_uc009ygv.1_Frame_Shift_Del_p.T114fs	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	114	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|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)	TAATACAGGTGTTTTTTTAGT	0.408													-	17190949	T	-	17190949	7	5	279	1	0	1	0	1	0	0	0	0	11909	1725	60	0	4848	0	PIK3C2A	11	17190949	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	6367641	17190949	117815567	601	143594											
ABCC8	6833	broad.mit.edu	37	chr11	17498278	17498278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaccccctggtccacccGgtaggcggccgagtggttct	15	14	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:17498278G>A	uc001mnc.2	-	1	172	c.46C>T	c.(46-48)CGG>TGG	p.R16W	ABCC8_uc010rcy.1_Missense_Mutation_p.R16W	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	16	Extracellular (By similarity).				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			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTCCACCCGGTAGGCGGCC	0.687													A	17498278	G	A	17498278	3	1	279	1	0	0	0	0	1	0	0	0	58	1115	39	1	4855	1	ABCC8	11	17498278	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	307329	17498278	117508238	602	143595											
PTPN5	84867	broad.mit.edu	37	chr11	18751286	18751286	+	Frame_Shift_Del	DEL	G	G	-													cccgcaccaggtgcaggagtGggggggcccggtctggggtc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:18751285_18751285TG>T	uc001mpd.3	-	12	1841	c.1410_1410CA>A	c.(1408-1410)ccafs	p.P470fs	PTPN5_uc001mpb.3_Frame_Shift_Del_p.P438fs|PTPN5_uc001mpc.3_Frame_Shift_Del_p.P470fs|PTPN5_uc010rdj.2_Frame_Shift_Del_p.P414fs|PTPN5_uc001mpf.3_Frame_Shift_Del_p.P446fs|PTPN5_uc001mpe.3_Frame_Shift_Del_p.P438fs|PTPN5_uc010rdk.2_Frame_Shift_Del_p.P415fs	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	470	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTGCAGGAGTGGGGGGGCCC	0.677													-	18751286	G	-	18751286	7	5	279	1	0	1	0	1	0	0	0	0	12791	1348	47	0	300	0	PTPN5	11	18751286	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1253008	18751286	116255230	603	143596											
PTPN5	84867	broad.mit.edu	37	chr11	18763931	18763931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtccaggaagtcatcctcGatcttctcctccatccactc	6	16	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:18763931G>A	uc001mpd.2	-	7	1034	c.603C>T	c.(601-603)ATC>ATT	p.I201I	PTPN5_uc001mpb.2_Silent_p.I169I|PTPN5_uc001mpc.2_Silent_p.I201I|PTPN5_uc001mpe.2_Silent_p.I169I|PTPN5_uc010rdj.1_Silent_p.I145I|PTPN5_uc001mpf.2_Silent_p.I177I|PTPN5_uc010rdk.1_Silent_p.I146I	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	201						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						AGTCATCCTCGATCTTCTCCT	0.617													A	18763931	G	A	18763931	2	1	279	1	0	0	0	0	0	0	0	1	12791	1048	37	1		1	PTPN5	11	18763931	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	12645	18763931	116242585	604	143597											
KCNA4	3739	broad.mit.edu	37	chr11	30034059	30034059	+	Frame_Shift_Del	DEL	C	C	-													ggtgggagcccccaccagaaCccccgctaccttcgacagca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:30034059delC	uc001msk.2	-	2	1319	c.167delG	c.(166-168)GGTfs	p.G56fs		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	56						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCACCAGAACCCCCGCTACC	0.706													-	30034059	C	-	30034059	7	5	279	1	0	1	0	1	0	0	0	0	8005	507	18	0	1798	0	KCNA4	11	30034059	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	11270128	30034059	104972457	605	143598											
CD44	960	broad.mit.edu	37	chr11	35219723	35219723	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgaagaaaatgaagaTgaaagagacagacacctcag	9	7	1	7			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:35219723T>C	uc001mvu.2	+	7	1286	c.852T>C	c.(850-852)GAT>GAC	p.D284D	CD44_uc001mvv.2_Silent_p.D241D|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	284	Extracellular (Potential).|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			pancreas(1)	1	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)	AAAATGAAGATGAAAGAGACA	0.428													C	35219723	T	C	35219723	2	2	279	1	0	0	0	0	0	0	0	1	3017	1461	51	3		3	CD44	11	35219723	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	5185664	35219723	99786793	606	143599											
EXT2	2132	broad.mit.edu	37	chr11	44097139	44097139	+	Frame_Shift_Del	DEL	G	G	-													ccacggtgctgtgtgaggccGggggtaagtgagctctgtgg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:44097139delG	uc010rfo.1	+	1	64	c.51delG	c.(49-51)CCGfs	p.P17fs	ACCS_uc010rfm.1_Frame_Shift_Del_p.G112fs|ACCS_uc009yks.1_Frame_Shift_Del_p.G185fs|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Frame_Shift_Del_p.G185fs	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			lung(2)|breast(2)|skin(1)	5						GTGTGAGGCCGGGGGTAAGTG	0.582			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses				-	44097139	G	-	44097139	7	5	279	1	0	1	0	1	0	0	0	0	5324	1116	39	0		0	EXT2	11	44097139	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	8877416	44097139	90909377	607	143600											
KIAA0652	9776	broad.mit.edu	37	chr11	46691079	46691079	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacagtccatggctgaagaCttggtatggaaacgtcttcc	11	10	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:46691079C>G	uc009yld.2	+	17	2157	c.1473C>G	c.(1471-1473)GAC>GAG	p.D491E	KIAA0652_uc001nda.2_Missense_Mutation_p.D524E|KIAA0652_uc001ndb.2_Missense_Mutation_p.D491E|KIAA0652_uc001ncz.2_Missense_Mutation_p.D454E|KIAA0652_uc001ndc.2_Missense_Mutation_p.D454E|KIAA0652_uc010rgv.1_Missense_Mutation_p.D375E	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	491					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		TGGCTGAAGACTTGGTATGGA	0.502													G	46691079	C	G	46691079	3	3	279	1	0	0	0	0	1	0	0	0	8188	564	20	5	1531	5	KIAA0652	11	46691079	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2593940	46691079	88315437	608	143601											
LRP4	4038	broad.mit.edu	37	chr11	46894694	46894694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccattgggccaacccaGgtctgtgttgatgaggacct	13	10	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:46894694G>A	uc001ndn.3	-	30	4686	c.4540C>T	c.(4540-4542)CTG>TTG	p.L1514L	uc001ndl.2_RNA	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1514	Extracellular (Potential).|LDL-receptor class B 18.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GGCCAACCCAGGTCTGTGTTG	0.552													A	46894694	G	A	46894694	2	1	279	1	0	0	0	0	0	0	0	1	8959	991	35	4		4	LRP4	11	46894694	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	203615	46894694	88111822	609	143602											
LRP4	4038	broad.mit.edu	37	chr11	46905424	46905424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggggcagccactcacccGcccatgggttccaccacgat	10	17	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:46905424G>A	uc001ndn.3	-	19	2756	c.2610C>T	c.(2608-2610)GGC>GGT	p.G870G		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	870	Extracellular (Potential).|LDL-receptor class B 7.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CCACTCACCCGCCCATGGGTT	0.537													A	46905424	G	A	46905424	2	1	279	1	0	0	0	0	0	0	0	1	8959	1074	38	1		1	LRP4	11	46905424	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10730	46905424	88101092	610	143603											
OR8H3	390152	broad.mit.edu	37	chr11	55890155	55890155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctttgcccagatgttcTgttttgtcttcttgggtact	10	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:55890155T>C	uc001nii.1	+	1	307	c.307T>C	c.(307-309)TGT>CGT	p.C103R		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CCAGATGTTCTGTTTTGTCTT	0.433													C	55890155	T	C	55890155	3	2	279	1	0	0	0	0	1	0	0	0	11239	1580	55	3	309	3	OR8H3	11	55890155	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	8984731	55890155	79116361	611	143604											
OR5R1	219479	broad.mit.edu	37	chr11	56185040	56185040	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcggatccttaggatagcGgcaataataaagatgtagga	13	5	0	1	rs146417436		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:56185040G>T	uc010rji.1	-	1	669	c.669C>A	c.(667-669)GCC>GCA	p.A223A		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TTAGGATAGCGGCAATAATAA	0.448													T	56185040	G	T	56185040	2	4	279	1	0	0	0	0	0	0	0	1	11180	1103	39	5		5	OR5R1	11	56185040	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	294885	56185040	78821476	612	143605											
CTNND1	1500	broad.mit.edu	37	chr11	57564070	57564070	+	Frame_Shift_Del	DEL	G	G	-													atttccgcaagaatggcaatGggggacctggtccctatgtg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:57564069_57564069TG>T	uc001nmc.4	+	5	1132	c.561_561TG>T	c.(559-561)aatfs	p.N187fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.N187fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.N187fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.N86fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.N133fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.N187fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	187					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.G186G(1)		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)				AGAATGGCAATGGGGGACCTG	0.517													-	57564070	G	-	57564070	7	5	279	1	0	1	0	1	0	0	0	0	4019	1348	47	0	576	0	CTNND1	11	57564070	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1379030	57564070	77442446	613	143606											
GLYATL2	219970	broad.mit.edu	37	chr11	58604601	58604601	+	Frame_Shift_Del	DEL	T	T	-													atgtaatctacctgcactgaTtttgaagttgcaacctttct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:58604600_58604600AT>A	uc001nnd.4	-	4	495	c.364_364AT>T	c.(364-366)tcafs	p.S122fs	GLYATL2_uc009ymq.3_Frame_Shift_Del_p.S122fs	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	122						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)	ACCTGCACTGATTTTGAAGTT	0.403													-	58604601	T	-	58604601	7	5	279	1	0	1	0	1	0	0	0	0	6481	1490	52	0	529	0	GLYATL2	11	58604601	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	1040531	58604601	76401915	614	143607											
DTX4	23220	broad.mit.edu	37	chr11	58949400	58949400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccattggctttagctacGtaattgacttcaacaccatg	6	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:58949400G>A	uc001nns.2	+	2	657	c.400G>A	c.(400-402)GTA>ATA	p.V134I	DTX4_uc001nnr.2_Missense_Mutation_p.V28I	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CTTTAGCTACGTAATTGACTT	0.592													A	58949400	G	A	58949400	3	1	279	1	0	0	0	0	1	0	0	0	4797	1145	40	1	406	1	DTX4	11	58949400	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	344799	58949400	76057116	615	143608											
DTX4	23220	broad.mit.edu	37	chr11	58949530	58949530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagtcctggccagtcaGccctgggccagccacctcgc	12	18	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:58949530G>A	uc001nns.2	+	2	787	c.530G>A	c.(529-531)AGC>AAC	p.S177N	DTX4_uc001nnr.2_Missense_Mutation_p.S71N	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	177					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				TGGCCAGTCAGCCCTGGGCCA	0.657													A	58949530	G	A	58949530	3	1	279	1	0	0	0	0	1	0	0	0	4797	971	34	2	536	2	DTX4	11	58949530	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	130	58949530	76056986	616	143609											
TMEM132A	54972	broad.mit.edu	37	chr11	60699530	60699530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgccttgtcactgtggaCggcgggggggccttggtgga	20	9	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:60699530C>T	uc001nqj.2	+	7	1480	c.1287C>T	c.(1285-1287)GAC>GAT	p.D429D	TMEM132A_uc001nqi.2_Silent_p.D430D|TMEM132A_uc001nqk.2_Silent_p.D442D|TMEM132A_uc001nql.1_3'UTR|TMEM132A_uc001nqm.2_5'Flank	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	429	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						TCACTGTGGACGGCGGGGGGG	0.652													T	60699530	C	T	60699530	2	4	279	1	0	0	0	0	0	0	0	1	16042	535	19	1		1	TMEM132A	11	60699530	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1750000	60699530	74306986	617	143610											
SYT7	9066	broad.mit.edu	37	chr11	61318905	61318905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagtctggcgtgcccaCcgtctccaaggaattcttgt	10	14	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:61318905C>T	uc001nrv.2	-	3	172	c.166G>A	c.(166-168)GTG>ATG	p.V56M	SYT7_uc009ynr.2_Missense_Mutation_p.V56M|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	56	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						GGCGTGCCCACCGTCTCCAAG	0.587													T	61318905	C	T	61318905	3	4	279	1	0	0	0	0	1	0	0	0	15476	507	18	4	1073	4	SYT7	11	61318905	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	619375	61318905	73687611	618	143611											
RTN3	10313	broad.mit.edu	37	chr11	63486964	63486967	+	Frame_Shift_Del	DEL	TGAT	TGAT	-													gaggtgtccagatgcgtgaaTgatatgcataactttactaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:63486964_63486967delTGAT	uc001nxq.2	+	3	1177_1180	c.990_993delTGAT	c.(988-993)AATGATfs	p.N330fs	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Frame_Shift_Del_p.N311fs|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Frame_Shift_Del_p.N218fs|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	330_331					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				ovary(1)	1						GATGCGTGAATGATATGCATAACT	0.431													-	63486967	TGAT	-	63486964	7	5	279	1	0	1	0	1	0	0	0	0	13727	1461	51	0	1000	0	RTN3	11	63486964	Frame_Shift_Del	DEL	TGAT	TCGA-HU-A4H3-01A-21D-A25D-08	2168059	63486964	71519552	619	143612											
C11orf84	144097	broad.mit.edu	37	chr11	63585422	63585422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcgggcgggcactgtgCatggtgtgtggcgctgagat	20	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:63585422C>T	uc001nxt.2	+	2	509	c.273C>T	c.(271-273)TGC>TGT	p.C91C		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	91											0						GGGCACTGTGCATGGTGTGTG	0.652													T	63585422	C	T	63585422	2	4	279	1	0	0	0	0	0	0	0	1	1667	718	25	2		2	C11orf84	11	63585422	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	98458	63585422	71421094	620	143613											
TRPT1	83707	broad.mit.edu	37	chr11	63992188	63992188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagctccaacttaggtAcctggttgaacgggtagcag	12	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:63992188A>G	uc001nyo.2	-	5	543	c.329T>C	c.(328-330)GTA>GCA	p.V110A	TRPT1_uc010rnc.1_Missense_Mutation_p.V110A|TRPT1_uc010rnd.1_Missense_Mutation_p.V112A|TRPT1_uc001nyn.2_Missense_Mutation_p.V61A|TRPT1_uc010rne.1_Missense_Mutation_p.V110A|TRPT1_uc010rnf.1_Missense_Mutation_p.V110A|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank|NUDT22_uc010rng.1_5'Flank	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1 isoform 1	110							tRNA 2'-phosphotransferase activity				0						CAACTTAGGTACCTGGTTGAA	0.612													G	63992188	A	G	63992188	3	3	279	1	0	0	0	0	1	0	0	0	16591	405	14	3	451	3	TRPT1	11	63992188	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	406766	63992188	71014328	621	143614											
PPP1R14B	26472	broad.mit.edu	37	chr11	64014044	64014044	+	Frame_Shift_Del	DEL	G	G	-													gggccctctcctgcggccccGggggggctctgaaagtagac							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64014044delG	uc001nza.2	-	1	370	c.102delC	c.(100-102)CCCfs	p.P34fs		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B	34					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						CTGCGGCCCCGGGGGGGCTCT	0.547													-	64014044	G	-	64014044	7	5	279	1	0	1	0	1	0	0	0	0	12360	1103	39	0	357	0	PPP1R14B	11	64014044	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	21856	64014044	70992472	622	143615											
NRXN2	9379	broad.mit.edu	37	chr11	64390507	64390507	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccctgatcccggcccccGatcttgatggcagcctggct	12	17	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64390507G>A	uc001oap.2	-	6	1264	c.753C>T	c.(751-753)ATC>ATT	p.I251I	NRXN2_uc001oar.2_Silent_p.I1297I|NRXN2_uc001oas.2_Silent_p.I1227I|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Silent_p.I964I	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	251	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CCCGGCCCCCGATCTTGATGG	0.498													A	64390507	G	A	64390507	2	1	279	1	0	0	0	0	0	0	0	1	10666	1048	37	1		1	NRXN2	11	64390507	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	376463	64390507	70616009	623	143616											
MAP4K2	5871	broad.mit.edu	37	chr11	64569590	64569590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcctccaggggcccaGtggctgaaaggaaaagggag	16	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64569590G>A	uc001obh.2	-	5	406	c.314C>T	c.(313-315)ACT>ATT	p.T105I	MAP4K2_uc001obi.2_Missense_Mutation_p.T105I|MAP4K2_uc010rnp.1_3'UTR	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	105	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						CAGGGGCCCAGTGGCTGAAAG	0.627											OREG0004013	type=REGULATORY REGION|Gene=AF161342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64569590	G	A	64569590	3	1	279	1	0	0	0	0	1	0	0	0	9260	1029	36	4	2260	4	MAP4K2	11	64569590	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	179083	64569590	70436926	624	143617											
PPP2R5B	5526	broad.mit.edu	37	chr11	64693273	64693273	+	Frame_Shift_Del	DEL	C	C	-													cccccgggctgtcgcctgtgCccccacccgacaaggtggac							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64693273delC	uc001oby.2	+	2	652	c.67delC	c.(67-69)CCCfs	p.P23fs	PPP2R5B_uc001obz.2_Frame_Shift_Del_p.P23fs	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	23					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GTCGCCTGTGCCCCCACCCGA	0.697													-	64693273	C	-	64693273	7	5	279	1	0	1	0	1	0	0	0	0	12393	739	26	0	69	0	PPP2R5B	11	64693273	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	123683	64693273	70313243	625	143618											
NAALADL1	10004	broad.mit.edu	37	chr11	64815659	64815659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttgatgtaggccaccGtgcgctcctgcagcttgttg	12	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:64815659G>A	uc001ocn.2	-	10	1329	c.1313C>T	c.(1312-1314)ACG>ATG	p.T438M	NAALADL1_uc010rnw.1_Translation_Start_Site|NAALADL1_uc009ypz.2_RNA	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	438	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						GTAGGCCACCGTGCGCTCCTG	0.627													A	64815659	G	A	64815659	3	1	279	1	0	0	0	0	1	0	0	0	10129	1145	40	1	945	1	NAALADL1	11	64815659	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	122386	64815659	70190857	626	143619											
LTBP3	4054	broad.mit.edu	37	chr11	65325120	65325120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcggaagccggagcccGtgagcgtgtctgtgctgtgg	17	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:65325120G>A	uc001oej.2	-	1	580	c.311C>T	c.(310-312)ACG>ATG	p.T104M	LTBP3_uc010roi.1_Translation_Start_Site|LTBP3_uc001oei.2_Missense_Mutation_p.T104M|LTBP3_uc010roj.1_Missense_Mutation_p.T90M|LTBP3_uc010rok.1_Missense_Mutation_p.T15M	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	104	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GCCGGAGCCCGTGAGCGTGTC	0.672													A	65325120	G	A	65325120	3	1	279	1	0	0	0	0	1	0	0	0	9075	1145	40	1	3712	1	LTBP3	11	65325120	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	509461	65325120	69681396	627	143620											
RELA	5970	broad.mit.edu	37	chr11	65426295	65426295	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagtgttgggggcaccTgaggcagtgaaaacaaggga	17	7	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:65426295T>C	uc001ofg.2	-	7	700	c.560_splice	c.e7-1	p.R187_splice	RELA_uc001ofh.2_Splice_Site_p.R184_splice|RELA_uc010ron.1_Splice_Site_p.R198_splice|RELA_uc009yqr.2_Splice_Site_p.R134_splice|RELA_uc001ofe.2_Splice_Site_p.R187_splice|RELA_uc001off.2_Splice_Site_p.R187_splice|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene						anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						TGGGGGCACCTGAGGCAGTGA	0.597													C	65426295	T	C	65426295	5	2	279	1	0	0	0	0	0	0	1	0	13216	1594	55	3	1117	3	RELA	11	65426295	Splice_Site	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	101175	65426295	69580221	628	143621											
SSH3	54961	broad.mit.edu	37	chr11	67079247	67079252	+	In_Frame_Del	DEL	GCAGGG	GCAGGG	-													caggccttccaggagcaggaGcaggggcaggggcaggggca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:67079247_67079252delGCAGGG	uc001okj.2	+	14	2047_2052	c.1869_1874delGCAGGG	c.(1867-1875)GAGCAGGGG>GAG	p.QG630del	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_In_Frame_Del_p.QG484del	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	630_631					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			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			aggagcaggagcaggggcaggggcag	0.544													-	67079252	GCAGGG	-	67079247	7	5	279	1	0	1	0	1	0	0	0	0	15185	962	34	0	1923	0	SSH3	11	67079247	In_Frame_Del	DEL	GCAGGG	TCGA-HU-A4H3-01A-21D-A25D-08	1652952	67079247	67927269	629	143622											
PITPNM1	9600	broad.mit.edu	37	chr11	67261407	67261407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacctgaccaccatgcgCacggggtagacaccaatgcc	10	16	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:67261407C>T	uc001olx.2	-	19	3183	c.2994G>A	c.(2992-2994)GTG>GTA	p.V998V	PITPNM1_uc001olw.2_Silent_p.V280V|PITPNM1_uc001oly.2_Silent_p.V998V|PITPNM1_uc001olz.2_Silent_p.V997V	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	998					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			lung(2)|central_nervous_system(1)	3						CCACCATGCGCACGGGGTAGA	0.537													T	67261407	C	T	67261407	2	4	279	1	0	0	0	0	0	0	0	1	11950	697	25	2		2	PITPNM1	11	67261407	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	182160	67261407	67745109	630	143623											
ALDH3B1	221	broad.mit.edu	37	chr11	67786680	67786680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcggagattagcaagaacGtcgagaagatcctggccgag	13	9	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:67786680G>A	uc010rpy.1	+	6	552	c.436G>A	c.(436-438)GTC>ATC	p.V146I	ALDH3B1_uc001omz.2_Missense_Mutation_p.V146I|ALDH3B1_uc001ona.2_Missense_Mutation_p.V109I|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	146					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	TAGCAAGAACGTCGAGAAGAT	0.607													A	67786680	G	A	67786680	3	1	279	1	0	0	0	0	1	0	0	0	499	1145	40	1	449	1	ALDH3B1	11	67786680	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	525273	67786680	67219836	631	143624											
SHANK2	22941	broad.mit.edu	37	chr11	70333007	70333007	+	Frame_Shift_Del	DEL	C	C	-													gctgtcctcgtcagcaaaatCcccctcctcggggaacatgg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:70333007delC	uc001oqc.2	-	21	3469	c.3391delG	c.(3391-3393)GATfs	p.D1131fs	SHANK2_uc010rqn.1_Frame_Shift_Del_p.D543fs|SHANK2_uc001opz.2_Frame_Shift_Del_p.D536fs|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	752					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAGCAAAATCCCCCTCCTCG	0.682													-	70333007	C	-	70333007	7	5	279	1	0	1	0	1	0	0	0	0	14265	855	30	0	2166	0	SHANK2	11	70333007	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	2546327	70333007	64673509	632	143625											
P2RY6	5031	broad.mit.edu	37	chr11	73007933	73007933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgcatcagcttccagCgctacctgggcatctgccac	8	17	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:73007933C>T	uc001otm.2	+	4	775	c.370C>T	c.(370-372)CGC>TGC	p.R124C	P2RY6_uc001otn.2_Missense_Mutation_p.R124C|P2RY6_uc001oto.2_Missense_Mutation_p.R124C|P2RY6_uc001otp.2_Missense_Mutation_p.R124C|P2RY6_uc001otq.2_Missense_Mutation_p.R124C|P2RY6_uc001otr.2_Missense_Mutation_p.R124C|P2RY6_uc001ots.2_Missense_Mutation_p.R124C	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	124	Cytoplasmic (Potential).				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			ovary(1)	1						CAGCTTCCAGCGCTACCTGGG	0.657													T	73007933	C	T	73007933	3	4	279	1	0	0	0	0	1	0	0	0	11354	768	27	1	372	1	P2RY6	11	73007933	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2674926	73007933	61998583	633	143626											
CHRDL2	25884	broad.mit.edu	37	chr11	74424463	74424463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcattgctgtggctccGtcacaggctgggggcagtgg	17	10	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:74424463G>A	uc001ovi.2	-	3	510	c.257C>T	c.(256-258)ACG>ATG	p.T86M	CHRDL2_uc001ovg.2_Intron|CHRDL2_uc001ovh.2_Missense_Mutation_p.T86M|CHRDL2_uc001ovk.1_Missense_Mutation_p.T86M			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	86	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					CTGTGGCTCCGTCACAGGCTG	0.597													A	74424463	G	A	74424463	3	1	279	1	0	0	0	0	1	0	0	0	3374	1145	40	1	1138	1	CHRDL2	11	74424463	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1416530	74424463	60582053	634	143627											
ODZ4	26011	broad.mit.edu	37	chr11	78449536	78449536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatatccaaagagagggtTattgacaaaactgatgttca	9	5	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:78449536T>C	uc001ozl.3	-	20	3299	c.2836A>G	c.(2836-2838)AAC>GAC	p.N946D		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	946	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AAGAGAGGGTTATTGACAAAA	0.478													C	78449536	T	C	78449536	3	2	279	1	0	0	0	0	1	0	0	0	10837	1754	61	3	5533	3	ODZ4	11	78449536	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	4025073	78449536	56556980	635	143628											
FAT3	120114	broad.mit.edu	37	chr11	92086841	92086841	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttgttaccatttgtcatTaatcagtttacaggtgttat	6	5	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:92086841T>C	uc001pdj.3	+	1	1580	c.1563T>C	c.(1561-1563)ATT>ATC	p.I521I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	521	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTTGTCATTAATCAGTTTA	0.393										TCGA Ovarian(4;0.039)			C	92086841	T	C	92086841	2	2	279	1	0	0	0	0	0	0	0	1	5691	1742	61	3		3	FAT3	11	92086841	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	13637305	92086841	42919675	636	143629											
CEP57	9702	broad.mit.edu	37	chr11	95564332	95564332	+	Frame_Shift_Del	DEL	A	A	-													tatgaaactgagacctggagAaaaaaggagaaaaaatcttc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:95564332delA	uc001pfp.1	+	11	1636	c.1415delA	c.(1414-1416)GAAfs	p.E472fs	CEP57_uc010ruh.1_Frame_Shift_Del_p.E463fs|CEP57_uc010rui.1_Frame_Shift_Del_p.E446fs|CEP57_uc009ywn.1_Frame_Shift_Del_p.E320fs|CEP57_uc001pfq.1_Frame_Shift_Del_p.E446fs|CEP57_uc001pfr.1_Frame_Shift_Del_p.E320fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	472	Mediates interaction with microtubules (By similarity).|Potential.				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			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGACCTGGAGAAAAAAGGAGA	0.383									Mosaic_Variegated_Aneuploidy_Syndrome				-	95564332	A	-	95564332	7	5	279	1	0	1	0	1	0	0	0	0	3256	246	9	0	1457	0	CEP57	11	95564332	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	3477491	95564332	39442184	637	143630											
CCDC82	79780	broad.mit.edu	37	chr11	96117891	96117891	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaatttctccttgtttcAtgtcttctaacatgtatcat	4	8	5	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:96117891A>G	uc009ywp.2	-	1	264	c.21T>C	c.(19-21)CAT>CAC	p.H7H	CCDC82_uc009ywq.2_Silent_p.H7H|CCDC82_uc001pfx.3_Silent_p.H7H|CCDC82_uc009ywr.2_Silent_p.H7H|CCDC82_uc009yws.2_Silent_p.H7H	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	7							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCCTTGTTTCATGTCTTCTAA	0.299													G	96117891	A	G	96117891	2	3	279	1	0	0	0	0	0	0	0	1	2856	214	8	3		3	CCDC82	11	96117891	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	553559	96117891	38888625	638	143631											
CNTN5	53942	broad.mit.edu	37	chr11	99827598	99827598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcggaagacagccggcGgttcatctcccaggagacag	15	11	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:99827598G>A	uc001pga.2	+	8	1073	c.734G>A	c.(733-735)CGG>CAG	p.R245Q	CNTN5_uc009ywv.1_Missense_Mutation_p.R245Q|CNTN5_uc001pfz.2_Missense_Mutation_p.R245Q|CNTN5_uc001pgb.2_Missense_Mutation_p.R171Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	245	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		GACAGCCGGCGGTTCATCTCC	0.413													A	99827598	G	A	99827598	3	1	279	1	0	0	0	0	1	0	0	0	3644	1116	39	1	756	1	CNTN5	11	99827598	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3709707	99827598	35178918	639	143632											
MMP10	4319	broad.mit.edu	37	chr11	102650093	102650093	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtataattcacaatcCtggaggagaaaaattgaaga	10	5	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:102650093C>A	uc001phg.1	-	3	370	c.348_splice	c.e3-1	p.R116_splice		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	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)		ATTCACAATCCTGGAGGAGAA	0.368													A	102650093	C	A	102650093	5	1	279	1	0	0	0	0	0	0	1	0	9649	695	24	5	1115	5	MMP10	11	102650093	Splice_Site	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2822495	102650093	32356423	640	143633											
ZC3H12C	85463	broad.mit.edu	37	chr11	110036198	110036198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagacttattccttgccCgataactccacacagccgtg	8	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:110036198C>T	uc009yxw.2	+	6	2439	c.2388C>T	c.(2386-2388)CCC>CCT	p.P796P	ZC3H12C_uc010rwc.1_Silent_p.P797P|ZC3H12C_uc010rwd.1_Silent_p.P797P|ZC3H12C_uc001pkr.3_Silent_p.P765P	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	796							endonuclease activity|nucleic acid binding|zinc ion binding				0		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)		ATTCCTTGCCCGATAACTCCA	0.577													T	110036198	C	T	110036198	2	4	279	1	0	0	0	0	0	0	0	1	17560	639	23	1		1	ZC3H12C	11	110036198	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7386105	110036198	24970318	641	143634											
NNMT	4837	broad.mit.edu	37	chr11	114182908	114182908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacactgtgtctggatgcCgcctgcccagacctccccac	9	18	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:114182908C>T	uc001por.1	+	5	768	c.504C>T	c.(502-504)GCC>GCT	p.A168A	NNMT_uc001pos.1_Silent_p.A168A	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	168					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		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)	GTCTGGATGCCGCCTGCCCAG	0.632													T	114182908	C	T	114182908	2	4	279	1	0	0	0	0	0	0	0	1	10509	639	23	1		1	NNMT	11	114182908	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4146710	114182908	20823608	642	143635											
SIDT2	51092	broad.mit.edu	37	chr11	117052201	117052201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgttgctgtttgtggtcCgccagaaggaggctgtggtg	17	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:117052201C>T	uc001pqh.1	+	2	294	c.253C>T	c.(253-255)CGC>TGC	p.R85C	SIDT2_uc010rxe.1_Missense_Mutation_p.R85C|SIDT2_uc001pqg.2_Missense_Mutation_p.R85C|SIDT2_uc001pqi.1_Missense_Mutation_p.R85C	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	85	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	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)		GTTTGTGGTCCGCCAGAAGGA	0.602											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	117052201	C	T	117052201	3	4	279	1	0	0	0	0	1	0	0	0	14303	652	23	1	259	1	SIDT2	11	117052201	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2869293	117052201	17954315	643	143636											
TMPRSS4	56649	broad.mit.edu	37	chr11	117973950	117973950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtgtcaagagcttccccGaagggcctgcagtggcaggt	14	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:117973950G>A	uc010rxo.1	+	4	583	c.292G>A	c.(292-294)GAA>AAA	p.E98K	TMPRSS4_uc010rxp.1_Missense_Mutation_p.E98K|TMPRSS4_uc010rxq.1_5'UTR|TMPRSS4_uc010rxr.1_Missense_Mutation_p.E73K|TMPRSS4_uc010rxs.1_Missense_Mutation_p.E58K|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Missense_Mutation_p.E73K	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	98	Extracellular (Potential).|SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GAGCTTCCCCGAAGGGCCTGC	0.632													A	117973950	G	A	117973950	3	1	279	1	0	0	0	0	1	0	0	0	16246	1059	37	1	306	1	TMPRSS4	11	117973950	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	921749	117973950	17032566	644	143637											
RNF26	79102	broad.mit.edu	37	chr11	119207069	119207069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcctgatgcgccaccccGtctaccaccgcaattgcccg	7	18	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:119207069G>A	uc001pwh.2	+	1	1833	c.1237G>A	c.(1237-1239)GTC>ATC	p.V413I		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	413	RING-type.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCGCCACCCCGTCTACCACCG	0.632													A	119207069	G	A	119207069	3	1	279	1	0	0	0	0	1	0	0	0	13486	1145	40	1	1239	1	RNF26	11	119207069	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1233119	119207069	15799447	645	143638											
OR10G9	219870	broad.mit.edu	37	chr11	123894243	123894243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacccaaccagatccagcActatttgtgtgatgcaccgc	9	13	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:123894243A>G	uc010sad.1	+	1	524	c.524A>G	c.(523-525)CAC>CGC	p.H175R		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		CAGATCCAGCACTATTTGTGT	0.557													G	123894243	A	G	123894243	3	3	279	1	0	0	0	0	1	0	0	0	10904	159	6	3	526	3	OR10G9	11	123894243	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	4687174	123894243	11112273	646	143639											
TMEM218	219854	broad.mit.edu	37	chr11	124971182	124971182	+	Frame_Shift_Del	DEL	A	A	-													tgatcacagcaccgaagaatAaaaaaatgacagagaacctg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:124971181_124971181TA>T	uc001qbs.3	-	2	781	c.129_129TA>A	c.(127-129)ttafs	p.L43fs	TMEM218_uc010sax.2_Frame_Shift_Del_p.L43fs|TMEM218_uc010saw.2_Frame_Shift_Del_p.L78fs|TMEM218_uc001qbt.3_Frame_Shift_Del_p.L78fs|TMEM218_uc010say.2_Intron	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	Homo sapiens transmembrane protein 218 (TMEM218), mRNA.	43						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CACCGAAGAATAAAAAAATGA	0.408													-	124971182	A	-	124971182	7	5	279	1	0	1	0	1	0	0	0	0	16138	372	13	0	227	0	TMEM218	11	124971182	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	1076939	124971182	10035334	647	143640											
NFRKB	4798	broad.mit.edu	37	chr11	129743720	129743720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgtggcaatgtctgtgCcggccctcccgactgctggg	13	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:129743720C>T	uc001qfi.2	-	22	2671	c.2470G>A	c.(2470-2472)GCA>ACA	p.A824T	NFRKB_uc001qfg.2_Missense_Mutation_p.A849T|NFRKB_uc001qfh.2_Missense_Mutation_p.A847T|NFRKB_uc010sbw.1_Missense_Mutation_p.A834T|NFRKB_uc009zcr.2_Missense_Mutation_p.A110T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	824					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	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)		AATGTCTGTGCCGGCCCTCCC	0.642													T	129743720	C	T	129743720	3	4	279	1	0	0	0	0	1	0	0	0	10384	739	26	2	1453	2	NFRKB	11	129743720	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4772538	129743720	5262796	648	143641											
APLP2	334	broad.mit.edu	37	chr11	129979402	129979402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgggaagttaaatatgCatgtgaacattcagactggg	12	4	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:129979402C>T	uc010sby.1	+	2	341	c.184C>T	c.(184-186)CAT>TAT	p.H62Y	APLP2_uc001qfp.2_Missense_Mutation_p.H62Y|APLP2_uc001qfq.2_Missense_Mutation_p.H62Y|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Splice_Site|APLP2_uc001qfs.2_Missense_Mutation_p.H62Y|APLP2_uc001qfv.2_Missense_Mutation_p.H9Y	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	62	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	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)		GTTAAATATGCATGTGAACAT	0.443													T	129979402	C	T	129979402	3	4	279	1	0	0	0	0	1	0	0	0	779	710	25	2	190	2	APLP2	11	129979402	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	235682	129979402	5027114	649	143642											
ADAMTS15	170689	broad.mit.edu	37	chr11	130319163	130319163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggggctcttcagacctgCgacgctgcttctattctggg	13	13	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:130319163C>T	uc010scd.1	+	1	295	c.295C>T	c.(295-297)CGA>TGA	p.R99*		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	99					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	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)		TTCAGACCTGCGACGCTGCTT	0.672													T	130319163	C	T	130319163	4	4	279	1	0	0	0	0	0	1	0	0	260	760	27	1	297	1	ADAMTS15	11	130319163	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	339761	130319163	4687353	650	143643											
NTM	50863	broad.mit.edu	37	chr11	132082036	132082036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttggagacacatctctcCcaaaggtaagagaacagttt	8	9	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr11:132082036C>T	uc001qgp.2	+	3	1185	c.521C>T	c.(520-522)CCC>CTC	p.P174L	NTM_uc001qgm.2_Missense_Mutation_p.P174L|NTM_uc010sch.1_Missense_Mutation_p.P165L|NTM_uc010sci.1_Missense_Mutation_p.P174L|NTM_uc010scj.1_Missense_Mutation_p.P133L|NTM_uc001qgo.2_Missense_Mutation_p.P174L|NTM_uc001qgq.2_Missense_Mutation_p.P174L|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	174	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						CACATCTCTCCCAAAGGTAAG	0.443													T	132082036	C	T	132082036	3	4	279	1	0	0	0	0	1	0	0	0	10699	623	22	4	617	4	NTM	11	132082036	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1762873	132082036	2924480	651	143644											
WNK1	65125	broad.mit.edu	37	chr12	993365	993365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagtcctgtgccagaaagccGattacgagaatcaaaagttt	10	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:993365G>T	uc001qio.3	+	18	4307	c.3800G>T	c.(3799-3801)CGA>CTA	p.R1267L	WNK1_uc001qip.3_Missense_Mutation_p.R1020L|WNK1_uc001qir.3_Missense_Mutation_p.R440L	NM_018979	NP_061852	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			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	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													T	993365	G	T	993365	3	4	279	1	0	0	0	0	1	0	0	0	17374	1058	37	5	5372	5	WNK1	12	993365	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		993365	132858530	652	143645											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc					rs80196697		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		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)			ACAACAGGGGGAAAAAAAGAT	0.393													-	4719362	A	-	4719362	7	5	279	1	0	1	0	1	0	0	0	0	4858	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	3725997	4719362	129132533	653	143646											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438696	6438696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctccagccgatcgatctCgtggtcgctcagccctaggc	11	16	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6438696C>T	uc001qnu.2	-	10	1431	c.1150G>A	c.(1150-1152)GAG>AAG	p.E384K	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.E276K|TNFRSF1A_uc010sey.1_Missense_Mutation_p.E152K|TNFRSF1A_uc010sez.1_Missense_Mutation_p.E276K|TNFRSF1A_uc009zek.2_Missense_Mutation_p.E341K	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	384	Death.|Cytoplasmic (Potential).				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			lung(2)|skin(1)	3						CGATCGATCTCGTGGTCGCTC	0.706													T	6438696	C	T	6438696	3	4	279	1	0	0	0	0	1	0	0	0	16290	893	31	1	221	1	TNFRSF1A	12	6438696	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1719334	6438696	127413199	654	143647											
LPAR5	57121	broad.mit.edu	37	chr12	6730002	6730002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccaggcagagcagccgcGccacgcggggccgccgcagg	17	18	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6730002G>A	uc009zer.2	-	2	694	c.413C>T	c.(412-414)GCG>GTG	p.A138V	LPAR5_uc001qps.2_Missense_Mutation_p.A138V|LPAR5_uc010sff.1_Missense_Mutation_p.A138V	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	138	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2						GAGCAGCCGCGCCACGCGGGG	0.711													A	6730002	G	A	6730002	3	1	279	1	0	0	0	0	1	0	0	0	8908	1087	38	1	709	1	LPAR5	12	6730002	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	291306	6730002	127121893	655	143648											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	279	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	194041	6924043	126927852	656	143649											
USP5	8078	broad.mit.edu	37	chr12	6964600	6964600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctacatctgtatgaacacGtttctgggctttgggaaaca	9	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:6964600G>A	uc001qri.3	+	2	206	c.147G>A	c.(145-147)ACG>ACA	p.T49T	USP5_uc001qrh.3_Silent_p.T49T	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	49					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						GTATGAACACGTTTCTGGGCT	0.488													A	6964600	G	A	6964600	2	1	279	1	0	0	0	0	0	0	0	1	17078	1132	40	1		1	USP5	12	6964600	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	40557	6964600	126887295	657	143650											
GRIN2B	2904	broad.mit.edu	37	chr12	14019044	14019045	+	Frame_Shift_Ins	INS	-	-	G													tgacagcaatgccaatgctgINSggggggctcttctgagaacg					rs77738206		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:14019043_14019044T>TG	uc001rbt.2	-	1	278_279	c.99_100A>CA	c.(97-102)cccagcfs	p.P33fs		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	33					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.P33L(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)	ATGCCAATGCTGGGGGGGCTCT	0.589													G	14019045	-	G	14019044	7	5	279	1	0	1	1	0	0	0	0	0	6780	1335	47	0	4403	0	GRIN2B	12	14019044	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	7054444	14019044	119832851	658	143651											
LMO3	55885	broad.mit.edu	37	chr12	16753644	16753644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagtgtacagggtggagcCcacctctcccaagcgacagt	11	12	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:16753644C>A	uc001rdk.1	-	2	591	c.151G>T	c.(151-153)GGC>TGC	p.G51C	LMO3_uc001rdj.1_Missense_Mutation_p.G62C|LMO3_uc010shy.1_Missense_Mutation_p.G69C|LMO3_uc001rdl.1_Missense_Mutation_p.G51C|LMO3_uc009zii.1_RNA|LMO3_uc010shz.1_Intron|LMO3_uc001rdm.1_Missense_Mutation_p.G51C|LMO3_uc001rdo.1_Intron|LMO3_uc001rdp.1_Intron|LMO3_uc001rdn.1_Missense_Mutation_p.G51C|LMO3_uc009zij.1_RNA|LMO3_uc009zik.1_RNA	NM_018640	NP_061110	Q8TAP4	LMO3_HUMAN	LIM domain only 3	51	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding				0		Hepatocellular(102;0.244)				AGGGTGGAGCCCACCTCTCCC	0.483													A	16753644	C	A	16753644	3	1	279	1	0	0	0	0	1	0	0	0	8853	623	22	5	298	5	LMO3	12	16753644	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2734600	16753644	117098251	659	143652											
KRAS	3845	broad.mit.edu	37	chr12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcactcttgcctacgCcaccagctccaactaccaca	5	18	2	0	rs112445441		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398281	C	T	25398281	3	4	279	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8644637	25398281	108453614	660	143653											
TMTC1	83857	broad.mit.edu	37	chr12	29709910	29709910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccaaggttgttgagcGcacttgcatggcgtggatac	14	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:29709910G>A	uc001rjb.2	-	10	1706	c.1232C>T	c.(1231-1233)GCG>GTG	p.A411V	TMTC1_uc001riz.2_Missense_Mutation_p.A168V|TMTC1_uc001rja.2_Missense_Mutation_p.A255V|TMTC1_uc001rjc.1_Missense_Mutation_p.A473V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	519	TPR 2.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTGTTGAGCGCACTTGCATG	0.463													A	29709910	G	A	29709910	3	1	279	1	0	0	0	0	1	0	0	0	16257	1087	38	1	1128	1	TMTC1	12	29709910	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4311629	29709910	104141985	661	143654											
ALG10	84920	broad.mit.edu	37	chr12	34179308	34179308	+	Frame_Shift_Del	DEL	T	T	-													attttcctcaactattctacTttttttcatttactctcttt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:34179307_34179307CT>C	uc001rlm.3	+	2	1198	c.879_879CT>C	c.(877-879)tacfs	p.Y293fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	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													-	34179308	T	-	34179308	7	5	279	1	0	1	0	1	0	0	0	0	511	1609	56	0	890	0	ALG10	12	34179308	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	4469398	34179308	99672587	662	143655											
MLL2	8085	broad.mit.edu	37	chr12	49420859	49420859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagggggccgggcacGgggcttgggtcgggctgatt	19	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:49420859G>A	uc001rta.3	-	48	14890	c.14890C>T	c.(14890-14892)CGT>TGT	p.R4964C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4964	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGCCGGGCACGGGGCTTGGGT	0.627			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49420859	G	A	49420859	3	1	279	1	0	0	0	0	1	0	0	0	9621	1116	39	1	1751	1	MLL2	12	49420859	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	15241551	49420859	84431036	663	143656											
MLL2	8085	broad.mit.edu	37	chr12	49447773	49447773	+	Frame_Shift_Del	DEL	C	C	-													cttctcacccagatatgcagCcccctcactgtgctctgggc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:49447772_49447772GC>G	uc001rta.4	-	4	662	c.662_662GC>C	c.(661-663)gctfs	p.A221fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	221					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGATATGCAGCCCCCTCACT	0.507			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	49447773	C	-	49447773	7	5	279	1	0	1	0	1	0	0	0	0	9621	739	26	0	16152	0	MLL2	12	49447773	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	26914	49447773	84404122	664	143657											
RACGAP1	29127	broad.mit.edu	37	chr12	50384072	50384073	+	Frame_Shift_Ins	INS	-	-	A													acttgagcattggagaagcaINSaaaaagttgccttgtcgtcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:50384071_50384072C>CA	uc001rvt.2	-	18	2188_2189	c.1878_1879G>TG	c.(1876-1881)tttgctfs	p.F626fs	RACGAP1_uc009zlm.1_Frame_Shift_Ins_p.F626fs|RACGAP1_uc001rvs.2_Frame_Shift_Ins_p.F626fs|RACGAP1_uc001rvu.2_Frame_Shift_Ins_p.F626fs	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	626					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	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding	p.A627V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ATTGGAGAAGCAAAAAAGTTGC	0.406													A	50384073	-	A	50384072	7	5	279	1	0	1	1	0	0	0	0	0	12977	127	5	0	24	0	RACGAP1	12	50384072	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	936299	50384072	83467823	665	143658											
TENC1	23371	broad.mit.edu	37	chr12	53453399	53453399	+	Frame_Shift_Del	DEL	G	G	-													tacccctacccacctgagatGgggaaaccagccactgggga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:53453398_53453398TG>T	uc001sbp.3	+	17	2108	c.1973_1973TG>T	c.(1972-1974)atgfs	p.M658fs	TENC1_uc001sbl.3_Frame_Shift_Del_p.M534fs|TENC1_uc001sbn.3_Frame_Shift_Del_p.M668fs|TENC1_uc001sbq.3_Frame_Shift_Del_p.M153fs|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Frame_Shift_Del_p.M153fs	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	658					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						CCACCTGAGATGGGGAAACCA	0.657													-	53453399	G	-	53453399	7	5	279	1	0	1	0	1	0	0	0	0	15755	1348	47	0	2153	0	TENC1	12	53453399	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	3069327	53453399	80398496	666	143659											
AAAS	8086	broad.mit.edu	37	chr12	53701365	53701365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggatgtctcagtaaagaGgggcaggtcatgaatagagc	16	5	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:53701365G>T	uc001scr.3	-	16	1712	c.1549C>A	c.(1549-1551)CTC>ATC	p.L517I	AAAS_uc001scs.3_Missense_Mutation_p.L484I	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	517					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						TCAGTAAAGAGGGGCAGGTCA	0.582													T	53701365	G	T	53701365	3	4	279	1	0	0	0	0	1	0	0	0	8	1000	35	5	95	5	AAAS	12	53701365	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	247966	53701365	80150530	667	143660											
MAP3K12	7786	broad.mit.edu	37	chr12	53877706	53877708	+	In_Frame_Del	DEL	CCT	CCT	-													ggaactcacctgagctcctcCctcctcctcatcaccagttc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:53877706_53877708delCCT	uc001sdm.1	-	9	1344_1346	c.1246_1248delAGG	c.(1246-1248)AGGdel	p.R416del	MAP3K12_uc001sdn.1_In_Frame_Del_p.R449del	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	416					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			lung(2)|ovary(1)|breast(1)|skin(1)	5						TGAGCTCCTCCCTCCTCCTCATC	0.542													-	53877708	CCT	-	53877706	7	5	279	1	0	1	0	1	0	0	0	0	9246	622	22	0	1359	0	MAP3K12	12	53877706	In_Frame_Del	DEL	CCT	TCGA-HU-A4H3-01A-21D-A25D-08	176341	53877706	79974189	668	143661											
ZBTB39	9880	broad.mit.edu	37	chr12	57397071	57397071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgacttgaagctctggCtgcacaagcggcagtggaag	13	11	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:57397071C>T	uc001sml.1	-	2	1717	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	544	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						GAAGCTCTGGCTGCACAAGCG	0.562													T	57397071	C	T	57397071	3	4	279	1	0	0	0	0	1	0	0	0	17537	797	28	2	511	2	ZBTB39	12	57397071	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3519365	57397071	76454824	669	143662											
GLI1	2735	broad.mit.edu	37	chr12	57859007	57859007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggatgatcccacatcCtcagtcccggggacccttcc	12	15	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:57859007C>A	uc001snx.2	+	5	581	c.503C>A	c.(502-504)CCT>CAT	p.P168H	GLI1_uc009zpq.2_Missense_Mutation_p.P40H	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	168					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			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			ATCCCACATCCTCAGTCCCGG	0.592													A	57859007	C	A	57859007	3	1	279	1	0	0	0	0	1	0	0	0	6437	681	24	5	517	5	GLI1	12	57859007	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	461936	57859007	75992888	670	143663											
MBD6	114785	broad.mit.edu	37	chr12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G													ggggctgcagctcctccctgINSgggggggagctcctccaccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629													G	57921733	-	G	57921732	7	5	279	1	0	1	1	0	0	0	0	0	9348	1348	47	0	2364	0	MBD6	12	57921732	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	62725	57921732	75930163	671	143664											
AVIL	10677	broad.mit.edu	37	chr12	58202264	58202264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagctgcttgaacatggccGactcagcaccatcgttgacg	10	13	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:58202264G>A	uc001sqj.1	-	9	1036	c.1007C>T	c.(1006-1008)TCG>TTG	p.S336L	AVIL_uc009zqe.1_Missense_Mutation_p.S329L|AVIL_uc001sqk.1_5'UTR|AVIL_uc001sql.3_Missense_Mutation_p.S313L	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	336	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GAACATGGCCGACTCAGCACC	0.547													A	58202264	G	A	58202264	3	1	279	1	0	0	0	0	1	0	0	0	1227	1059	37	1	1496	1	AVIL	12	58202264	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	280532	58202264	75649631	672	143665											
XPOT	11260	broad.mit.edu	37	chr12	64808688	64808688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttgcaatcttataggCcctggcctattttgagcagt	9	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:64808688C>T	uc001ssb.2	+	3	488	c.62C>T	c.(61-63)GCC>GTC	p.A21V	XPOT_uc009zqm.1_5'UTR	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	21	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		ATCTTATAGGCCCTGGCCTAT	0.358													T	64808688	C	T	64808688	3	4	279	1	0	0	0	0	1	0	0	0	17447	753	26	2	68	2	XPOT	12	64808688	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6606424	64808688	69043207	673	143666											
PTPRR	5801	broad.mit.edu	37	chr12	71155319	71155319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacattgatattaagtgaacGaagaacttcctcagagggca	9	7	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:71155319G>A	uc001swi.1	-	4	975	c.559C>T	c.(559-561)CGT>TGT	p.R187C	PTPRR_uc010stq.1_Missense_Mutation_p.R75C	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	187	Extracellular (Potential).				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			skin(2)|ovary(1)	3			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)		TTAAGTGAACGAAGAACTTCC	0.368													A	71155319	G	A	71155319	3	1	279	1	0	0	0	0	1	0	0	0	12810	1058	37	1	1458	1	PTPRR	12	71155319	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6346631	71155319	62696576	674	143667											
NAV3	89795	broad.mit.edu	37	chr12	78571062	78571062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctggtgactgtggctcaGcatccatgaagccctcacaa	10	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:78571062G>T	uc001syp.2	+	27	5439	c.5266G>T	c.(5266-5268)GCA>TCA	p.A1756S	NAV3_uc001syo.2_Missense_Mutation_p.A1756S|NAV3_uc010sub.1_Missense_Mutation_p.A1235S|NAV3_uc009zsf.2_Missense_Mutation_p.A587S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1756						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTGTGGCTCAGCATCCATGAA	0.433										HNSCC(70;0.22)			T	78571062	G	T	78571062	3	4	279	1	0	0	0	0	1	0	0	0	10185	971	34	5	5372	5	NAV3	12	78571062	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	7415743	78571062	55280833	675	143668											
TMTC3	160418	broad.mit.edu	37	chr12	88588949	88588950	+	Frame_Shift_Ins	INS	-	-	A													agaaagatatactaggagcaINSaaaaaatgttttgaaaggat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:88588948_88588949C>CA	uc001tau.3	+	13	2487_2488	c.2267_2268C>CA	c.(2266-2268)gcafs	p.A756fs		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	757						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATACTAGGAGCAAAAAAATGTT	0.332													A	88588950	-	A	88588949	7	5	279	1	0	1	1	0	0	0	0	0	16259	117	5	0	2318	0	TMTC3	12	88588949	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	10017887	88588949	45262946	676	143669											
LUM	4060	broad.mit.edu	37	chr12	91502483	91502483	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctagaatgagccactgcaGatcagttacattctcaaagg	8	9	3	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:91502483G>T	uc001tbm.2	-	2	663	c.274C>A	c.(274-276)CTG>ATG	p.L92M	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	92	LRR 2.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2						AGCCACTGCAGATCAGTTACA	0.378													T	91502483	G	T	91502483	3	4	279	1	0	0	0	0	1	0	0	0	9085	933	33	5	750	5	LUM	12	91502483	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2913534	91502483	42349412	677	143670											
ANKS1B	56899	broad.mit.edu	37	chr12	99837512	99837512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggatggaggtgaacaaTcaggtgttgggcctgttgag	18	5	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:99837512T>C	uc001tge.1	-	11	1931	c.1514A>G	c.(1513-1515)GAT>GGT	p.D505G	ANKS1B_uc001tgf.1_Missense_Mutation_p.D85G|ANKS1B_uc009ztt.1_Missense_Mutation_p.D471G	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	505						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		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)		AGGTGAACAATCAGGTGTTGG	0.433													C	99837512	T	C	99837512	3	2	279	1	0	0	0	0	1	0	0	0	689	1435	50	3	2584	3	ANKS1B	12	99837512	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	8335029	99837512	34014383	678	143671											
SPIC	121599	broad.mit.edu	37	chr12	101873423	101873423	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaaattccagctgctAtggagtgttgcctacagagg	12	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:101873423A>G	uc001tid.2	+	4	320	c.161A>G	c.(160-162)TAT>TGT	p.Y54C	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.Y53C	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCCAGCTGCTATGGAGTGTTG	0.373													G	101873423	A	G	101873423	3	3	279	1	0	0	0	0	1	0	0	0	15050	449	16	3	165	3	SPIC	12	101873423	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2035911	101873423	31978472	679	143672											
GNPTAB	79158	broad.mit.edu	37	chr12	102158002	102158003	+	Frame_Shift_Ins	INS	-	-	T													gagaagatcttggaaatactINStttttttctcccatggcaaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:102158001_102158002C>CT	uc001tit.3	-	12	2885_2886	c.2693_2694G>AG	c.(2692-2694)aagfs	p.K898fs		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	898					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			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						CTTGGAAATACTTTTTTTTCTC	0.371													T	102158003	-	T	102158002	7	5	279	1	0	1	1	0	0	0	0	0	6545	1609	56	0	1113	0	GNPTAB	12	102158002	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	284579	102158002	31693893	680	143673											
C12orf23	90488	broad.mit.edu	37	chr12	107365084	107365084	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaagggggtgtctctgCtgtggctggaggtgttacag	19	5	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:107365084C>G	uc001tmb.2	+	4	640	c.266C>G	c.(265-267)GCT>GGT	p.A89G	C12orf23_uc001tmc.2_Missense_Mutation_p.A89G|C12orf23_uc001tmd.2_Missense_Mutation_p.A89G	NM_152261	NP_689474	Q8WUH6	CL023_HUMAN	hypothetical protein LOC90488	89	Helical; (Potential).					integral to membrane					0						GGTGTCTCTGCTGTGGCTGGA	0.473													G	107365084	C	G	107365084	3	3	279	1	0	0	0	0	1	0	0	0	1677	797	28	5	272	5	C12orf23	12	107365084	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	5207082	107365084	26486811	681	143674											
FICD	11153	broad.mit.edu	37	chr12	108913176	108913176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctgctttttgccacaaCtgagtactcggtggcactgc	9	14	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:108913176C>T	uc001tmx.1	+	3	1447	c.1301C>T	c.(1300-1302)ACT>ATT	p.T434I		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	434					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TTTGCCACAACTGAGTACTCG	0.552													T	108913176	C	T	108913176	3	4	279	1	0	0	0	0	1	0	0	0	5887	565	20	4	1307	4	FICD	12	108913176	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1548092	108913176	24938719	682	143675											
KCTD10	83892	broad.mit.edu	37	chr12	109889532	109889532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgtggcctccaggagCgcattgtcaggtccccggcc	13	17	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:109889532C>T	uc001toi.1	-	7	898	c.810G>A	c.(808-810)GCG>GCA	p.A270A	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Silent_p.A244A|KCTD10_uc001toj.1_Silent_p.A279A|KCTD10_uc001tok.1_Silent_p.A89A	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	270					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CCTCCAGGAGCGCATTGTCAG	0.647													T	109889532	C	T	109889532	2	4	279	1	0	0	0	0	0	0	0	1	8097	755	27	1		1	KCTD10	12	109889532	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	976356	109889532	23962363	683	143676											
MVK	4598	broad.mit.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-													tcgtagtgtggtcggagctgCcccccggggcgggcttgggc					rs104895373		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662													-	110019240	C	-	110019240	7	5	279	1	0	1	0	1	0	0	0	0	9995	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	129708	110019240	23832655	684	143677											
CUX2	23316	broad.mit.edu	37	chr12	111734323	111734323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagagctgcggcggaagtaCgacgaggaggcagcatccaa	15	10	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:111734323C>T	uc001tsa.1	+	8	837	c.684C>T	c.(682-684)TAC>TAT	p.Y228Y		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	228	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GGCGGAAGTACGACGAGGAGG	0.622													T	111734323	C	T	111734323	2	4	279	1	0	0	0	0	0	0	0	1	4065	547	19	1		1	CUX2	12	111734323	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1715083	111734323	22117572	685	143678											
NAA25	80018	broad.mit.edu	37	chr12	112492200	112492202	+	In_Frame_Del	DEL	ATC	ATC	-													tatactaccaacccaatggtAtcatgctggatatgcttagc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:112492200_112492202delATC	uc001ttm.2	-	14	1638_1640	c.1618_1620delGAT	c.(1618-1620)GATdel	p.D540del	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_In_Frame_Del_p.D512del|NAA25_uc009zwa.1_In_Frame_Del_p.D540del	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	540						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						ACCCAATGGTATCATGCTGGATA	0.424													-	112492202	ATC	-	112492200	7	5	279	1	0	1	0	1	0	0	0	0	10121	446	16	0	1342	0	NAA25	12	112492200	In_Frame_Del	DEL	ATC	TCGA-HU-A4H3-01A-21D-A25D-08	757877	112492200	21359695	686	143679											
C12orf51	283450	broad.mit.edu	37	chr12	112607396	112607396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgacgcagagctgagacGacggcactgaggccagctgc	15	12	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:112607396G>A	uc009zwc.2	-	63	10871	c.10853C>T	c.(10852-10854)TCG>TTG	p.S3618L		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GAGCTGAGACGACGGCACTGA	0.577													A	112607396	G	A	112607396	3	1	279	1	0	0	0	0	1	0	0	0	1696	1059	37	1	1165	1	C12orf51	12	112607396	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	115196	112607396	21244499	687	143680											
RASAL1	8437	broad.mit.edu	37	chr12	113553853	113553853	+	Frame_Shift_Del	DEL	C	C	-													actcgcagggcacccaggttCcccctgtccaggatcagatc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:113553852_113553852TC>T	uc001tun.2	-	9	1037	c.736_736GA>A	c.(736-738)aacfs	p.N246fs	RASAL1_uc010syp.2_Frame_Shift_Del_p.N246fs|RASAL1_uc001tul.3_Frame_Shift_Del_p.N246fs|RASAL1_uc001tum.2_Frame_Shift_Del_p.N246fs|RASAL1_uc010syq.2_Frame_Shift_Del_p.N246fs|RASAL1_uc001tuo.4_Frame_Shift_Del_p.N246fs|RASAL1_uc010syr.2_Frame_Shift_Del_p.N246fs	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	246					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			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						GCACCCAGGTTCCCCCTGTCC	0.572													-	113553853	C	-	113553853	7	5	279	1	0	1	0	1	0	0	0	0	13063	842	30	0	1731	0	RASAL1	12	113553853	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	946457	113553853	20298042	688	143681											
MED13L	23389	broad.mit.edu	37	chr12	116429481	116429481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcgggctccacagagTtgaggggccgtgtagtagag	19	7	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:116429481T>C	uc001tvw.2	-	17	3333	c.3278A>G	c.(3277-3279)AAC>AGC	p.N1093S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1093					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCCACAGAGTTGAGGGGCCG	0.547													C	116429481	T	C	116429481	3	2	279	1	0	0	0	0	1	0	0	0	9431	1725	60	3	3414	3	MED13L	12	116429481	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2875628	116429481	17422414	689	143682											
RNFT2	84900	broad.mit.edu	37	chr12	117187926	117187926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccaccatggcggccacCgcgggggctccctgctgcag	13	16	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:117187926C>T	uc009zwn.2	+	4	597	c.364C>T	c.(364-366)CGC>TGC	p.R122C	RNFT2_uc001twb.3_Missense_Mutation_p.R122C|RNFT2_uc001twa.3_Missense_Mutation_p.R32C	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	122	Extracellular (Potential).|His-rich.					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TGGCGGCCACCGCGGGGGCTC	0.756													T	117187926	C	T	117187926	3	4	279	1	0	0	0	0	1	0	0	0	13502	652	23	1	374	1	RNFT2	12	117187926	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	758445	117187926	16663969	690	143683											
WDR66	144406	broad.mit.edu	37	chr12	122396297	122396297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctcctgccacccatAtcaacccctcattgccatcg	4	19	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:122396297A>G	uc009zxk.2	+	12	1992	c.1850A>G	c.(1849-1851)TAT>TGT	p.Y617C		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	617	WD 6.						calcium ion binding			ovary(1)|skin(1)	2	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)		TGCCACCCATATCAACCCCTC	0.458													G	122396297	A	G	122396297	3	3	279	1	0	0	0	0	1	0	0	0	17314	449	16	3	1892	3	WDR66	12	122396297	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	5208371	122396297	11455598	691	143684											
MLXIP	22877	broad.mit.edu	37	chr12	122623059	122623059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcaggaggaggcccggcGgctgcgggaggagatcgagg	22	8	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:122623059G>A	uc001ubq.2	+	14	2345	c.2345G>A	c.(2344-2346)CGG>CAG	p.R782Q	MLXIP_uc001ubt.2_Missense_Mutation_p.R389Q	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	782	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	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)		GAGGCCCGGCGGCTGCGGGAG	0.627													A	122623059	G	A	122623059	3	1	279	1	0	0	0	0	1	0	0	0	9636	1116	39	1	2399	1	MLXIP	12	122623059	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	226762	122623059	11228836	692	143685											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958509	122958509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaggtgatgaggcaacGgaattgccagttaaaggtgt	15	5	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:122958509G>A	uc001ucn.2	-	14	1790	c.1659C>T	c.(1657-1659)TCC>TCT	p.S553S	ZCCHC8_uc001ucl.2_Silent_p.S164S|ZCCHC8_uc001ucm.2_Silent_p.S315S|ZCCHC8_uc009zxp.2_Silent_p.S315S|ZCCHC8_uc009zxq.2_Silent_p.S315S	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	553						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	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)		ATGAGGCAACGGAATTGCCAG	0.532													A	122958509	G	A	122958509	2	1	279	1	0	0	0	0	0	0	0	1	17591	1103	39	1		1	ZCCHC8	12	122958509	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	335450	122958509	10893386	693	143686											
KNTC1	9735	broad.mit.edu	37	chr12	123060345	123060345	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgggtaaatttgctttcAgagtcaagttattacaggaa	9	4	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:123060345A>G	uc001ucv.2	+	29	2650	c.2487_splice	c.e29-2	p.K829_splice	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore						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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		ATTTGCTTTCAGAGTCAAGTT	0.308													G	123060345	A	G	123060345	5	3	279	1	0	0	0	0	0	0	1	0	8428	202	7	3	2595	3	KNTC1	12	123060345	Splice_Site	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	101836	123060345	10791550	694	143687											
PITPNM2	57605	broad.mit.edu	37	chr12	123470761	123470761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggtggttccgggagCgcagaaagtcgccctggccg	17	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:123470761C>T	uc001uej.1	-	25	4002	c.3863G>A	c.(3862-3864)CGC>CAC	p.R1288H	PITPNM2_uc001uek.1_Missense_Mutation_p.R1282H	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1288					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		GTTCCGGGAGCGCAGAAAGTC	0.736													T	123470761	C	T	123470761	3	4	279	1	0	0	0	0	1	0	0	0	11951	768	27	1	190	1	PITPNM2	12	123470761	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	410416	123470761	10381134	695	143688											
SBNO1	55206	broad.mit.edu	37	chr12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T													tcccatatcatatcttccatINStttttttggcattttgaaca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		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)		CATATCTTCCATTTTTTTTGGC	0.386													T	123794284	-	T	123794283	7	5	279	1	0	1	1	0	0	0	0	0	13862	1493	52	0	793	0	SBNO1	12	123794283	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	323522	123794283	10057612	696	143689											
DHX37	57647	broad.mit.edu	37	chr12	125449032	125449032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacacggaaggaggatacGccagtgacgcggtcgtagta	16	8	0	2	rs35913103	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:125449032G>A	uc001ugy.2	-	15	2052	c.1953C>T	c.(1951-1953)GGC>GGT	p.G651G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	651	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	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)		AGGAGGATACGCCAGTGACGC	0.622													A	125449032	G	A	125449032	2	1	279	1	0	0	0	0	0	0	0	1	4510	1074	38	1		1	DHX37	12	125449032	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1654749	125449032	8402863	697	143690											
GOLGA3	2802	broad.mit.edu	37	chr12	133349748	133349748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctctgtgggtcgccGcgtgggccggcgtgaccccc	16	15	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr12:133349748G>A	uc001ukz.1	-	24	4999	c.4440C>T	c.(4438-4440)CGC>CGT	p.R1480R		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1480					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		GTGGGTCGCCGCGTGGGCCGG	0.701													A	133349748	G	A	133349748	2	1	279	1	0	0	0	0	0	0	0	1	6554	1074	38	1		1	GOLGA3	12	133349748	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	7900716	133349748	502147	698	143691											
XPO4	64328	broad.mit.edu	37	chr13	21417957	21417957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccatgctcaatccaatGttgctagttttacttgaact	5	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:21417957G>A	uc001unq.3	-	5	561	c.525C>T	c.(523-525)AAC>AAT	p.N175N	XPO4_uc010tcr.1_Silent_p.N101N	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	175					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		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)		TCAATCCAATGTTGCTAGTTT	0.333													A	21417957	G	A	21417957	2	1	279	1	0	0	0	0	0	0	0	1	17443	1368	48	4		4	XPO4	13	21417957	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		21417957	93751921	699	143692											
SACS	26278	broad.mit.edu	37	chr13	23906391	23906391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactactctcttaactgtaCgcatttcattaggatctaat	4	9	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:23906391C>T	uc001uon.2	-	10	12213	c.11624G>A	c.(11623-11625)CGT>CAT	p.R3875H	SACS_uc001uoo.2_Missense_Mutation_p.R3728H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3875					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CTTAACTGTACGCATTTCATT	0.383													T	23906391	C	T	23906391	3	4	279	1	0	0	0	0	1	0	0	0	13804	536	19	1	2119	1	SACS	13	23906391	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2488434	23906391	91263487	700	143693											
SACS	26278	broad.mit.edu	37	chr13	23908934	23908934	+	Frame_Shift_Del	DEL	A	A	-													tcatcctgtagtaaattgtcAaaaaatggtctagttttatt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:23908934delA	uc001uon.2	-	10	9670	c.9081delT	c.(9079-9081)TTTfs	p.F3027fs	SACS_uc001uoo.2_Frame_Shift_Del_p.F2880fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3027					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		GTAAATTGTCAAAAAATGGTC	0.358													-	23908934	A	-	23908934	7	5	279	1	0	1	0	1	0	0	0	0	13804	127	5	0	4662	0	SACS	13	23908934	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	2543	23908934	91260944	701	143694											
SHISA2	387914	broad.mit.edu	37	chr13	26620736	26620736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtagccaggctgcaggCcgtccatgaaaggtggcaca	14	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:26620736C>T	uc001uqm.1	-	2	888	c.803G>A	c.(802-804)GGC>GAC	p.G268D		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	268	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						AGGCTGCAGGCCGTCCATGAA	0.562													T	26620736	C	T	26620736	3	4	279	1	0	0	0	0	1	0	0	0	14280	739	26	2	88	2	SHISA2	13	26620736	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2711802	26620736	88549142	702	143695											
RNF6	6049	broad.mit.edu	37	chr13	26788460	26788460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctgtacctaagttactcAgttctgagtgcatgtctggt	9	8	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:26788460A>G	uc001uqo.2	-	5	1850	c.1559T>C	c.(1558-1560)CTG>CCG	p.L520P	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.L520P|RNF6_uc001uqp.2_Missense_Mutation_p.L520P|RNF6_uc001uqq.2_Missense_Mutation_p.L520P|RNF6_uc010tdk.1_Missense_Mutation_p.L164P	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	520					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			ovary(1)|skin(1)	2	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)		TAAGTTACTCAGTTCTGAGTG	0.473													G	26788460	A	G	26788460	3	3	279	1	0	0	0	0	1	0	0	0	13498	188	7	3	502	3	RNF6	13	26788460	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	167724	26788460	88381418	703	143696											
FLT3	2322	broad.mit.edu	37	chr13	28578289	28578289	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaggacattccgaaacaCggccatccacattctgatac	8	12	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:28578289C>G	uc001urw.2	-	24	2964	c.2882G>C	c.(2881-2883)CGT>CCT	p.R961P	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R920P	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	961	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	TTCCGAAACACGGCCATCCAC	0.463			Mis|O		AML|ALL								G	28578289	C	G	28578289	3	3	279	1	0	0	0	0	1	0	0	0	5942	536	19	5	103	5	FLT3	13	28578289	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1789829	28578289	86591589	704	143697											
C13orf33	84935	broad.mit.edu	37	chr13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-													cggggagccggcggcggcgcGggggggcttcaacgtcttcg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582													-	31480852	G	-	31480852	7	5	279	1	0	1	0	1	0	0	0	0	1727	1116	39	0	202	0	C13orf33	13	31480852	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	2902563	31480852	83689026	705	143698											
SPG20	23111	broad.mit.edu	37	chr13	36905729	36905729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagaggatataaccagtcaCaaacctgaaaggattcatta	7	8	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:36905729C>A	uc001uvn.2	-	4	1085	c.815G>T	c.(814-816)TGT>TTT	p.C272F	SPG20_uc010ten.1_Missense_Mutation_p.C272F|SPG20_uc001uvm.2_Missense_Mutation_p.C272F|SPG20_uc001uvo.2_Missense_Mutation_p.C272F|SPG20_uc001uvq.2_Missense_Mutation_p.C272F|SPG20_uc001uvp.2_Missense_Mutation_p.C272F	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	272					cell death	cytoplasm	ubiquitin protein ligase binding				0		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)		TAACCAGTCACAAACCTGAAA	0.318													A	36905729	C	A	36905729	3	1	279	1	0	0	0	0	1	0	0	0	15041	478	17	5	1213	5	SPG20	13	36905729	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	5424877	36905729	78264149	706	143699											
AKAP11	11215	broad.mit.edu	37	chr13	42874500	42874500	+	Frame_Shift_Del	DEL	A	A	-													ttgatcaaaaaaataaatctAaaaataaatccttaatgatt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:42874500delA	uc001uys.1	+	8	1793	c.1618delA	c.(1618-1620)AAAfs	p.K540fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	540					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		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)		AAATAAATCTAAAAATAAATC	0.284													-	42874500	A	-	42874500	7	5	279	1	0	1	0	1	0	0	0	0	447	363	13	0	1640	0	AKAP11	13	42874500	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	5968771	42874500	72295378	707	143700											
ENOX1	55068	broad.mit.edu	37	chr13	43788214	43788214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaattcctgtttgaacatgCgtggcagcctcatcaaaagc	9	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:43788214C>T	uc001uza.3	-	17	2144	c.1844G>A	c.(1843-1845)CGC>CAC	p.R615H	ENOX1_uc001uzb.3_Missense_Mutation_p.R615H|ENOX1_uc001uzc.3_Missense_Mutation_p.R615H|ENOX1_uc001uyz.3_Missense_Mutation_p.R224H	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	615					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		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)		TTTGAACATGCGTGGCAGCCT	0.428													T	43788214	C	T	43788214	3	4	279	1	0	0	0	0	1	0	0	0	5126	768	27	1	91	1	ENOX1	13	43788214	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	913714	43788214	71381664	708	143701											
FAM124A	220108	broad.mit.edu	37	chr13	51825626	51825626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctttccgttgaagaggcGcaggaccctttcctggtcag	13	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:51825626G>A	uc001vfg.1	+	3	254	c.123G>A	c.(121-123)GCG>GCA	p.A41A	FAM124A_uc001vfe.2_Silent_p.A41A|FAM124A_uc001vff.1_Silent_p.A77A	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	41										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TTGAAGAGGCGCAGGACCCTT	0.527													A	51825626	G	A	51825626	2	1	279	1	0	0	0	0	0	0	0	1	5425	1074	38	1		1	FAM124A	13	51825626	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8037412	51825626	63344252	709	143702											
UTP14C	9724	broad.mit.edu	37	chr13	52604361	52604361	+	Frame_Shift_Del	DEL	A	A	-													aaaacatcagtccaggaagcAaaaagcaagttcagagggga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:52604360_52604360CA>C	uc001vgb.3	+	1	1982	c.1420_1420CA>C	c.(1420-1422)caafs	p.Q474fs	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q474fs	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	474					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)		GTCCAGGAAGCAAAAAGCAAG	0.493													-	52604361	A	-	52604361	7	5	279	1	0	1	0	1	0	0	0	0	17093	130	5	0	1423	0	UTP14C	13	52604361	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	778735	52604361	62565517	710	143703											
DIS3	22894	broad.mit.edu	37	chr13	73352362	73352363	+	Frame_Shift_Del	DEL	TT	TT	-													ccttcttctatggctttctcTttgtttctcctgtcatttgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:73352362_73352363delTT	uc001vix.3	-	3	916_917	c.542_543delAA	c.(541-543)AAAfs	p.K181fs	DIS3_uc001viy.3_Frame_Shift_Del_p.K151fs|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	181	PINc.				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)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGGCTTTCTCTTTGTTTCTCCT	0.361										Multiple Myeloma(4;0.011)			-	73352363	TT	-	73352362	7	5	279	1	0	1	0	1	0	0	0	0	4535	1606	56	0	2409	0	DIS3	13	73352362	Frame_Shift_Del	DEL	TT	TCGA-HU-A4H3-01A-21D-A25D-08	20748001	73352362	41817516	711	143704											
TBC1D4	9882	broad.mit.edu	37	chr13	75863191	75863191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagctcatcctgtagcAcatgatattccacctcatag	6	13	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:75863191A>G	uc001vjl.1	-	20	3889	c.3542T>C	c.(3541-3543)GTG>GCG	p.V1181A	TBC1D4_uc010tht.1_Missense_Mutation_p.V391A|TBC1D4_uc010thu.1_Missense_Mutation_p.V338A|TBC1D4_uc010aer.2_Missense_Mutation_p.V1173A|TBC1D4_uc010aes.2_Missense_Mutation_p.V1118A	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1181						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATCCTGTAGCACATGATATTC	0.418													G	75863191	A	G	75863191	3	3	279	1	0	0	0	0	1	0	0	0	15619	159	6	3	362	3	TBC1D4	13	75863191	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2510829	75863191	39306687	712	143705											
SLC15A1	6564	broad.mit.edu	37	chr13	99354751	99354751	+	Frame_Shift_Del	DEL	T	T	-													tacctgattccattttccccTttttctggcttctggttaag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:99354751delT	uc001vno.2	-	18	1526	c.1449delA	c.(1447-1449)AAAfs	p.K483fs		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	483	Extracellular (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATTTTCCCCTTTTTCTGGCT	0.254													-	99354751	T	-	99354751	7	5	279	1	0	1	0	1	0	0	0	0	14398	1606	56	0	701	0	SLC15A1	13	99354751	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	23491560	99354751	15815127	713	143706											
NALCN	259232	broad.mit.edu	37	chr13	102029266	102029266	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttattgtaaagcagcgctcActttaaaatatttgtaattc	5	7	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:102029266A>G	uc001vox.1	-	5	704	c.515_splice	c.e5+1	p.K172_splice	NALCN_uc001voy.2_Splice_Site|NALCN_uc001voz.2_Splice_Site_p.K172_splice|NALCN_uc001vpa.2_Splice_Site_p.K172_splice	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCAGCGCTCACTTTAAAATA	0.388													G	102029266	A	G	102029266	5	3	279	1	0	0	0	0	0	0	1	0	10148	173	6	3	4859	3	NALCN	13	102029266	Splice_Site	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2674515	102029266	13140612	714	143707											
FAM155A	728215	broad.mit.edu	37	chr13	108518356	108518356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccccccggccgccccccGactccagttcctggcgcaca	9	23	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:108518356G>A	uc001vql.2	-	1	1105	c.589C>T	c.(589-591)CGG>TGG	p.R197W		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	197						integral to membrane	binding			skin(1)	1						GCCGCCCCCCGACTCCAGTTC	0.637													A	108518356	G	A	108518356	3	1	279	1	0	0	0	0	1	0	0	0	5465	1057	37	1	799	1	FAM155A	13	108518356	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6489090	108518356	6651522	715	143708											
LAMP1	3916	broad.mit.edu	37	chr13	113960868	113960868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggaccgcgtgcataatgGccaacttctctgctgccttc	10	14	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:113960868G>A	uc001vtm.1	+	2	411	c.130G>A	c.(130-132)GCC>ACC	p.A44T	LAMP1_uc010tka.1_Missense_Mutation_p.A44T	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	44	Lumenal (Potential).|First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	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)			GTGCATAATGGCCAACTTCTC	0.512													A	113960868	G	A	113960868	3	1	279	1	0	0	0	0	1	0	0	0	8617	1203	42	2	136	2	LAMP1	13	113960868	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5442512	113960868	1209010	716	143709											
UPF3A	65110	broad.mit.edu	37	chr13	115051799	115051800	+	Frame_Shift_Del	DEL	AG	AG	-													ctagaatatcctgcagtggtAgagtttgctccattccagaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr13:115051799_115051800delAG	uc001vup.2	+	4	481_482	c.444_445delAG	c.(442-447)GTAGAGfs	p.V148fs	UPF3A_uc001vuq.2_Intron|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA|UPF3A_uc001vut.2_5'UTR|UPF3A_uc001vuu.2_5'UTR	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	148_149					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	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)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CTGCAGTGGTAGAGTTTGCTCC	0.406													-	115051800	AG	-	115051799	7	5	279	1	0	1	0	1	0	0	0	0	17002	407	15	0	458	0	UPF3A	13	115051799	Frame_Shift_Del	DEL	AG	TCGA-HU-A4H3-01A-21D-A25D-08	1090931	115051799	118079	717	143710											
OR4K17	390436	broad.mit.edu	37	chr14	20586464	20586464	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcaaccactctgtagataAgttccttgctgtgttttata	8	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:20586464A>C	uc001vwo.1	+	1	899	c.899A>C	c.(898-900)AAG>ACG	p.K300T		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTGTAGATAAGTTCCTTGCT	0.408													C	20586464	A	C	20586464	3	2	279	1	0	0	0	0	1	0	0	0	11071	72	3	5	901	5	OR4K17	14	20586464	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08		20586464	86763076	718	143711											
METT11D1	64745	broad.mit.edu	37	chr14	21458721	21458721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggagttgcaaagacggGctaggcatcttgagaaaaaa	13	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:21458721G>A	uc001vyn.2	+	3	525	c.328G>A	c.(328-330)GCT>ACT	p.A110T	METT11D1_uc010tlk.1_Missense_Mutation_p.A110T|METT11D1_uc001vym.2_Missense_Mutation_p.A110T|METT11D1_uc001vyo.2_Missense_Mutation_p.A110T|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	110					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCAAAGACGGGCTAGGCATCT	0.453											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	21458721	G	A	21458721	3	1	279	1	0	0	0	0	1	0	0	0	9491	1203	42	2	338	2	METT11D1	14	21458721	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	872257	21458721	85890819	719	143712											
CHD8	57680	broad.mit.edu	37	chr14	21897486	21897486	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaccagggtgatgcgtttCgattcaccctaaagtgaaga	12	8	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:21897486C>T	uc001was.1	-	3	109	c.15G>A	c.(13-15)TCG>TCA	p.S5S	CHD8_uc001war.1_5'UTR	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	284					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGATGCGTTTCGATTCACCCT	0.443													T	21897486	C	T	21897486	2	4	279	1	0	0	0	0	0	0	0	1	3331	871	31	1		1	CHD8	14	21897486	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	438765	21897486	85452054	720	143713											
ABHD4	63874	broad.mit.edu	37	chr14	23072850	23072850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttaaacacctcatcctggTggacccatggggctttcccc	9	14	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:23072850T>C	uc001wgm.2	+	4	575	c.506T>C	c.(505-507)GTG>GCG	p.V169A	ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Missense_Mutation_p.V169A|ABHD4_uc010tnb.1_Intron	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	169					lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTCATCCTGGTGGACCCATGG	0.522													C	23072850	T	C	23072850	3	2	279	1	0	0	0	0	1	0	0	0	84	1696	59	3	520	3	ABHD4	14	23072850	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1175364	23072850	84276690	721	143714											
JUB	84962	broad.mit.edu	37	chr14	23451381	23451381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaggcgccccttgcccggcCcgggggtcccgtcagaccca	13	18	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:23451381C>A	uc001whz.2	-	1	471	c.95G>T	c.(94-96)GGG>GTG	p.G32V		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	32	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		CTTGCCCGGCCCGGGGGTCCC	0.677													A	23451381	C	A	23451381	3	1	279	1	0	0	0	0	1	0	0	0	7968	623	22	5	1553	5	JUB	14	23451381	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	378531	23451381	83898159	722	143715											
DCAF11	80344	broad.mit.edu	37	chr14	24590651	24590651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgctgcacaccctcatcCgctgccggttctcccccatt	8	18	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:24590651C>T	uc001wlv.2	+	13	1604	c.1324C>T	c.(1324-1326)CGC>TGC	p.R442C	DCAF11_uc001wlw.2_Missense_Mutation_p.R442C|DCAF11_uc001wlz.2_Missense_Mutation_p.R342C|DCAF11_uc001wly.2_Missense_Mutation_p.R398C|DCAF11_uc001wme.2_Missense_Mutation_p.R402C|DCAF11_uc010tny.1_Missense_Mutation_p.R309C|DCAF11_uc001wmd.2_Missense_Mutation_p.R442C|DCAF11_uc001wmc.2_Missense_Mutation_p.R342C|DCAF11_uc001wmb.3_Missense_Mutation_p.R416C|DCAF11_uc001wma.3_Missense_Mutation_p.R442C	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	442	WD 6.					CUL4 RING ubiquitin ligase complex	protein binding				0						CACCCTCATCCGCTGCCGGTT	0.592													T	24590651	C	T	24590651	3	4	279	1	0	0	0	0	1	0	0	0	4262	652	23	1	1370	1	DCAF11	14	24590651	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1139270	24590651	82758889	723	143716											
NOVA1	4857	broad.mit.edu	37	chr14	26917657	26917657	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctgctgcagccaaAgcccctgttgctgctgcttg	12	14	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:26917657A>G	uc001wpy.2	-	5	1350	c.1032T>C	c.(1030-1032)GCT>GCC	p.A344A	NOVA1_uc001wpz.2_Silent_p.A320A|NOVA1_uc001wqa.2_Silent_p.A222A	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	347	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		ctgcagccaaagcccctgttg	0.328													G	26917657	A	G	26917657	2	3	279	1	0	0	0	0	0	0	0	1	10554	59	3	3		3	NOVA1	14	26917657	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2327006	26917657	80431883	724	143717											
NKX2-1	7080	broad.mit.edu	37	chr14	36987121	36987121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacccggcgcttcctgcgcgGcgcgcttggcagcggggcca	16	17	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:36987121G>T	uc001wtt.2	-	2	819	c.478C>A	c.(478-480)CCG>ACG	p.P160T	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.P190T|NKX2-1_uc001wtv.2_Missense_Mutation_p.P160T|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	160					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TTCCTGCGCGGCGCGCTTGGC	0.692			A		NSCLC								T	36987121	G	T	36987121	3	4	279	1	0	0	0	0	1	0	0	0	10449	1203	42	5	641	5	NKX2-1	14	36987121	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	10069464	36987121	70362419	725	143718											
NKX2-8	26257	broad.mit.edu	37	chr14	37051465	37051465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgcgctccgaatccaGccaggcggcgcaggggtcgg	18	14	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:37051465G>A	uc001wtx.2	-	1	322	c.130C>T	c.(130-132)CTG>TTG	p.L44L		NM_014360	NP_055175	O15522	NKX28_HUMAN	NK2 homeobox 8	44					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TCCGAATCCAGCCAGGCGGCG	0.692													A	37051465	G	A	37051465	2	1	279	1	0	0	0	0	0	0	0	1	10454	962	34	2		2	NKX2-8	14	37051465	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	64344	37051465	70298075	726	143719											
FOXA1	3169	broad.mit.edu	37	chr14	38061521	38061521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacgtcttggcgtcgccGccgccgcccgcgcggctgcg	15	17	1	1	rs142975212		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:38061521G>A	uc001wuf.2	-	2	780	c.468C>T	c.(466-468)GGC>GGT	p.G156G	FOXA1_uc010tpz.1_Silent_p.G123G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	156					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				0	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)		TGGCGTcgccgccgccgcccg	0.557													A	38061521	G	A	38061521	2	1	279	1	0	0	0	0	0	0	0	1	5989	1074	38	1		1	FOXA1	14	38061521	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1010056	38061521	69288019	727	143720											
LRFN5	145581	broad.mit.edu	37	chr14	42355997	42355997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaagaactgtggaactgCggttggcagacaattttgtt	12	6	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:42355997C>T	uc001wvm.2	+	3	1367	c.169C>T	c.(169-171)CGG>TGG	p.R57W	LRFN5_uc010ana.2_Missense_Mutation_p.R57W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	57	Extracellular (Potential).|LRR 1.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGTGGAACTGCGGTTGGCAGA	0.383										HNSCC(30;0.082)			T	42355997	C	T	42355997	3	4	279	1	0	0	0	0	1	0	0	0	8941	759	27	1	171	1	LRFN5	14	42355997	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4294476	42355997	64993543	728	143721											
LRFN5	145581	broad.mit.edu	37	chr14	42360596	42360596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttgcatccagtttactaCggaacaggattatgtgcgtt	12	7	0	0	rs150445484		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:42360596C>T	uc001wvm.2	+	4	2727	c.1529C>T	c.(1528-1530)ACG>ATG	p.T510M	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	510	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAGTTTACTACGGAACAGGAT	0.448										HNSCC(30;0.082)			T	42360596	C	T	42360596	3	4	279	1	0	0	0	0	1	0	0	0	8941	536	19	1	1535	1	LRFN5	14	42360596	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4599	42360596	64988944	729	143722											
C14orf37	145407	broad.mit.edu	37	chr14	58598353	58598353	+	Frame_Shift_Del	DEL	C	C	-													tgcaggggaaatgctgggttCccccaccattattccaggag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:58598353delC	uc001xdc.2	-	4	1819	c.1708delG	c.(1708-1710)GAAfs	p.E570fs	C14orf37_uc010tro.1_Frame_Shift_Del_p.E608fs|C14orf37_uc001xdd.2_Frame_Shift_Del_p.E570fs|C14orf37_uc001xde.2_Frame_Shift_Del_p.E570fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	570	Extracellular (Potential).					integral to membrane	binding				0						ATGCTGGGTTCCCCCACCATT	0.493													-	58598353	C	-	58598353	7	5	279	1	0	1	0	1	0	0	0	0	1771	864	30	0	636	0	C14orf37	14	58598353	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	16237757	58598353	48751187	730	143723											
JKAMP	51528	broad.mit.edu	37	chr14	59961785	59961785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattatttgaatgcagcatgGcagctattatcaccttactt	6	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:59961785G>A	uc001xei.3	+	4	845	c.343G>A	c.(343-345)GCA>ACA	p.A115T	JKAMP_uc001xef.3_Missense_Mutation_p.A101T|JKAMP_uc001xeh.3_Missense_Mutation_p.A95T|JKAMP_uc001xeg.3_Missense_Mutation_p.A109T|JKAMP_uc010try.1_Missense_Mutation_p.A38T|JKAMP_uc001xej.3_Missense_Mutation_p.A38T	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	116	Helical; (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						ATGCAGCATGGCAGCTATTAT	0.378													A	59961785	G	A	59961785	3	1	279	1	0	0	0	0	1	0	0	0	7949	1203	42	2	315	2	JKAMP	14	59961785	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1363432	59961785	47387755	731	143724											
EIF2S1	1965	broad.mit.edu	37	chr14	67843159	67843159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcattttatttctaggttTatagcattcttcgtcatgtt	5	6	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:67843159T>C	uc001xjg.2	+	4	466	c.325T>C	c.(325-327)TAT>CAT	p.Y109H		NM_004094	NP_004085	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2,	109						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			ovary(1)	1				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TTTCTAGGTTTATAGCATTCT	0.328													C	67843159	T	C	67843159	3	2	279	1	0	0	0	0	1	0	0	0	5009	1754	61	3	335	3	EIF2S1	14	67843159	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	7881374	67843159	39506381	732	143725											
SLC8A3	6547	broad.mit.edu	37	chr14	70512799	70512799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcccaggtgcggccgCcttcggtacaagagcacgct	11	17	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:70512799C>T	uc001xly.2	-	8	3403	c.2649G>A	c.(2647-2649)AGG>AGA	p.R883R	SLC8A3_uc001xlu.2_Silent_p.R240R|SLC8A3_uc001xlv.2_Silent_p.R254R|SLC8A3_uc001xlw.2_Silent_p.R880R|SLC8A3_uc001xlx.2_Silent_p.R881R|SLC8A3_uc001xlz.2_Silent_p.R877R|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	883	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGCGGCCGCCTTCGGTACA	0.602											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70512799	C	T	70512799	2	4	279	1	0	0	0	0	0	0	0	1	14708	738	26	2		2	SLC8A3	14	70512799	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2669640	70512799	36836741	733	143726											
C14orf115	55237	broad.mit.edu	37	chr14	74825385	74825385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctgtggtggcagcagcGggtggcagggatggccggat	19	9	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:74825385G>A	uc001xpw.3	+	2	2090	c.1899G>A	c.(1897-1899)GCG>GCA	p.A633A		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	633					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGGCAGCAGCGGGTGGCAGGG	0.652													A	74825385	G	A	74825385	2	1	279	1	0	0	0	0	0	0	0	1	1740	1103	39	1		1	C14orf115	14	74825385	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4312586	74825385	32524155	734	143727											
KIAA0317	9870	broad.mit.edu	37	chr14	75142501	75142501	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctcgtcaacagcagtGgatggccggcgctgggaaga	14	11	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:75142501G>T	uc001xqb.2	-	8	1486	c.981C>A	c.(979-981)TCC>TCA	p.S327S	KIAA0317_uc010tut.1_Silent_p.S166S|KIAA0317_uc001xqc.2_Silent_p.S327S	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CAACAGCAGTGGATGGCCGGC	0.522													T	75142501	G	T	75142501	2	4	279	1	0	0	0	0	0	0	0	1	8167	1335	47	5		5	KIAA0317	14	75142501	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	317116	75142501	32207039	735	143728											
DLST	1743	broad.mit.edu	37	chr14	75359617	75359617	+	Frame_Shift_Del	DEL	C	C	-													ctacagcagcggcagttcctCcccctgcagcacccataccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:75359617delC	uc001xqv.2	+	8	586	c.523delC	c.(523-525)CCCfs	p.P175fs	DLST_uc001xqu.2_Frame_Shift_Del_p.P87fs|DLST_uc001xqt.2_Frame_Shift_Del_p.P91fs|DLST_uc010tuw.1_Frame_Shift_Del_p.P89fs|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Frame_Shift_Del_p.P175fs	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	175					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GGCAGTTCCTCCCCCTGCAGC	0.577													-	75359617	C	-	75359617	7	5	279	1	0	1	0	1	0	0	0	0	4569	855	30	0	553	0	DLST	14	75359617	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	217116	75359617	31989923	736	143729											
ALKBH1	8846	broad.mit.edu	37	chr14	78140528	78140528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgcataaacatggccGtgggggcctcatccctttga	11	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:78140528G>A	uc001xuc.1	-	6	806	c.797C>T	c.(796-798)ACG>ATG	p.T266M	ALKBH1_uc001xud.1_RNA	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	266	Fe2OG dioxygenase.			TA -> PP (in Ref. 1; CAA63047).	DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAACATGGCCGTGGGGGCCTC	0.463													A	78140528	G	A	78140528	3	1	279	1	0	0	0	0	1	0	0	0	526	1145	40	1	376	1	ALKBH1	14	78140528	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2780911	78140528	29209012	737	143730											
FLRT2	23768	broad.mit.edu	37	chr14	86089608	86089608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatacaaccggggccggCggaaagatgattattgcgag	15	7	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:86089608C>T	uc001xvr.2	+	2	2517	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W	FLRT2_uc010atd.2_Missense_Mutation_p.R584W	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	584	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCGGGGCCGGCGGAAAGATGA	0.493													T	86089608	C	T	86089608	3	4	279	1	0	0	0	0	1	0	0	0	5939	759	27	1	1752	1	FLRT2	14	86089608	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7949080	86089608	21259932	738	143731											
EML5	161436	broad.mit.edu	37	chr14	89153595	89153595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgcagctctttttataGcataggtcttgagacatctt	7	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:89153595G>A	uc001xxg.2	-	20	3005	c.2819C>T	c.(2818-2820)GCT>GTT	p.A940V	EML5_uc001xxh.1_Missense_Mutation_p.A79V	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	940	WD 15.					cytoplasm|microtubule				ovary(3)	3						TCTTTTTATAGCATAGGTCTT	0.373													A	89153595	G	A	89153595	3	1	279	1	0	0	0	0	1	0	0	0	5100	971	34	2	3214	2	EML5	14	89153595	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3063987	89153595	18195945	739	143732											
SMEK1	55671	broad.mit.edu	37	chr14	91942831	91942831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgttttgaggctgtagcGtttgggaaaacgcacaaaat	11	7	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:91942831G>A	uc001xzn.2	-	6	1853	c.1031C>T	c.(1030-1032)ACG>ATG	p.T344M	SMEK1_uc001xzm.2_Missense_Mutation_p.T344M|SMEK1_uc001xzo.2_Missense_Mutation_p.T344M|SMEK1_uc010atz.2_Missense_Mutation_p.T105M|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.T220M	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	344						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGGCTGTAGCGTTTGGGAAAA	0.289													A	91942831	G	A	91942831	3	1	279	1	0	0	0	0	1	0	0	0	14793	1145	40	1	1471	1	SMEK1	14	91942831	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2789236	91942831	15406709	740	143733											
ATG2B	55102	broad.mit.edu	37	chr14	96770878	96770878	+	Frame_Shift_Del	DEL	C	C	-													agtcatggttccttccttttCccccacatactgtattacgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:96770877_96770877TC>T	uc001yfi.3	-	31	5162	c.4797_4797GA>A	c.(4795-4797)ggafs	p.G1599fs		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1599								p.G1599fs*9(1)		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)		TCCTTCCTTTTCCCCCACATA	0.408													-	96770878	C	-	96770878	7	5	279	1	0	1	0	1	0	0	0	0	1094	855	30	0	1484	0	ATG2B	14	96770878	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	4828047	96770878	10578662	741	143734											
EML1	2009	broad.mit.edu	37	chr14	100402660	100402660	+	Frame_Shift_Del	DEL	A	A	-													gtcaaattccggagactacgAaatcctctactgtgagtacc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:100402660delA	uc001ygs.2	+	19	2153	c.2084delA	c.(2083-2085)GAAfs	p.E695fs	EML1_uc010tww.1_Frame_Shift_Del_p.E683fs|EML1_uc001ygr.2_Frame_Shift_Del_p.E714fs	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	695	WD 9.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGAGACTACGAAATCCTCTAC	0.507													-	100402660	A	-	100402660	7	5	279	1	0	1	0	1	0	0	0	0	5096	246	9	0	2219	0	EML1	14	100402660	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	3631782	100402660	6946880	742	143735											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551161	102551162	+	In_Frame_Ins	INS	-	-	TCT													tcgatgtacttttccttaatINScttcttcttcttcttcttgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:102551160_102551161A>ATCT	uc001yku.4	-	4	1028_1029	c.838_839T>AGAT	c.(838-840)att>AGATt	p.I280R	HSP90AA1_uc001ykv.4_In_Frame_Ins_p.I402R|HSP90AA1_uc001ykw.1_In_Frame_Ins_p.I101R|HSP90AA1_uc001ykx.1_In_Frame_Ins_p.I269R	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	280					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|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|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|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)	cttttccttaatcttcttcttc	0.386													TCT	102551162	-	TCT	102551161	7	5	279	1	0	1	1	0	0	0	0	0	7401	1435	50	0	1388	0	HSP90AA1	14	102551161	In_Frame_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	2148501	102551161	4798379	743	143736											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551762	102551762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttgttccacgacccataGgttcacctgcaagagaagaa	8	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:102551762G>T	uc001yku.3	-	4	726	c.536C>A	c.(535-537)CCT>CAT	p.P179H	HSP90AA1_uc001ykv.3_Missense_Mutation_p.P301H|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.P168H	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	179					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			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ACGACCCATAGGTTCACCTGC	0.388													T	102551762	G	T	102551762	3	4	279	1	0	0	0	0	1	0	0	0	7401	1000	35	5	1694	5	HSP90AA1	14	102551762	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	601	102551762	4797778	744	143737											
AMN	81693	broad.mit.edu	37	chr14	103395179	103395181	+	In_Frame_Del	DEL	TCT	TCT	-													tggggacgaggcacctggccTcttcttcgtggacgccgagc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:103395178_103395180CTCT>C	uc001ymg.4	+	4	412_414	c.379_381CTCT>C	c.(379-381)ctc>C	p.L127del	AMN_uc001ymh.4_In_Frame_Del_p.L73del	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	127					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)	GGCACCTGGCCTCTTCTTCGTGG	0.695													-	103395181	TCT	-	103395179	7	5	279	1	0	1	0	1	0	0	0	0	580	1551	54	0	398	0	AMN	14	103395179	In_Frame_Del	DEL	TCT	TCGA-HU-A4H3-01A-21D-A25D-08	843417	103395179	3954361	745	143738											
INF2	64423	broad.mit.edu	37	chr14	105169757	105169758	+	Frame_Shift_Del	DEL	GC	GC	-													atcttgggccccgaggacctGcgcgcgcgcacccagctgcg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:105169756_105169757TGC>T	uc001ypb.2	+	3	775_776	c.632_633TGC>T	c.(631-633)ctgfs	p.L211fs	INF2_uc001yoy.4_Frame_Shift_Del_p.L211fs|INF2_uc001ypc.2_Frame_Shift_Del_p.L211fs	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	211	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	p.R214fs*38(1)|p.R214fs*>21(1)		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)		CCCGAGGACCTGCGCGCGCGCA	0.644													-	105169758	GC	-	105169757	7	5	279	1	0	1	0	1	0	0	0	0	7734	1306	46	0	643	0	INF2	14	105169757	Frame_Shift_Del	DEL	GC	TCGA-HU-A4H3-01A-21D-A25D-08	1774578	105169757	2179783	746	143739											
AKT1	207	broad.mit.edu	37	chr14	105239379	105239379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatctcgtacatgaccacGcccagcccccaccagtccac	5	20	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:105239379G>A	uc001ypk.2	-	11	1562	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.G336G|AKT1_uc010axa.2_Silent_p.G336G|AKT1_uc001ypm.2_Silent_p.G336G|AKT1_uc001ypn.2_Silent_p.G336G|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Silent_p.G274G	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	336	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			breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		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)	ACATGACCACGCCCAGCCCCC	0.612		1	Mis		breast|colorectal|ovarian|NSCLC								A	105239379	G	A	105239379	2	1	279	1	0	0	0	0	0	0	0	1	478	1074	38	1		1	AKT1	14	105239379	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	69622	105239379	2110161	747	143740											
KIAA0284	283638	broad.mit.edu	37	chr14	105344265	105344265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggaccagaagtacgtcaCgctgaagctcaacgatgtca	10	13	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr14:105344265C>T	uc010axb.2	+	4	463	c.239C>T	c.(238-240)ACG>ATG	p.T80M	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.T10M|KIAA0284_uc001yps.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	80						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AAGTACGTCACGCTGAAGCTC	0.627													T	105344265	C	T	105344265	3	4	279	1	0	0	0	0	1	0	0	0	8166	536	19	1	249	1	KIAA0284	14	105344265	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	104886	105344265	2005275	748	143741											
OR4M2	390538	broad.mit.edu	37	chr15	22368585	22368585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgaagaaatggaaactGcaaattacaccaaggtgaca	8	6	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:22368585G>A	uc010tzu.1	+	1	10	c.10G>A	c.(10-12)GCA>ACA	p.A4T	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		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)		AATGGAAACTGCAAATTACAC	0.328													A	22368585	G	A	22368585	3	1	279	1	0	0	0	0	1	0	0	0	11076	1319	46	2	12	2	OR4M2	15	22368585	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		22368585	80162807	749	143742											
OR4N4	283694	broad.mit.edu	37	chr15	22382692	22382692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggatgcatcctacTccttcattgtggctcccagg	8	15	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:22382692T>G	uc001yuc.1	+	7	1201	c.220T>G	c.(220-222)TCC>GCC	p.S74A	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.S74A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		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)		TGCATCCTACTCCTTCATTGT	0.473													G	22382692	T	G	22382692	3	3	279	1	0	0	0	0	1	0	0	0	11078	1551	54	5	222	5	OR4N4	15	22382692	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	14107	22382692	80148700	750	143743											
MKRN3	7681	broad.mit.edu	37	chr15	23811405	23811406	+	Frame_Shift_Ins	INS	-	-	C													actcaggaagtggcggaagcINSccccccggctgcatcctccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:23811404_23811405G>GC	uc001ywh.4	+	0	951_952	c.475_476G>GC	c.(475-477)gccfs	p.A159fs	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Frame_Shift_Ins_p.A159fs	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	159						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)		AGTGGCGGAAGCCCCCCCGGCT	0.644													C	23811406	-	C	23811405	7	5	279	1	0	1	1	0	0	0	0	0	9608	739	26	0	478	0	MKRN3	15	23811405	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1428713	23811405	78719987	751	143744											
MTMR10	54893	broad.mit.edu	37	chr15	31234037	31234038	+	Frame_Shift_Del	DEL	CA	CA	-													agcggaagtagcacagtttcCacagttttatgtgtgttcca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:31234037_31234038delCA	uc001zfh.1	-	16	2067_2068	c.1969_1970delTG	c.(1969-1971)TGGfs	p.W657fs	MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Frame_Shift_Del_p.W71fs|MTMR10_uc001zfg.1_Frame_Shift_Del_p.W238fs|MTMR10_uc010azx.1_Frame_Shift_Del_p.W409fs|MTMR10_uc001zfi.1_3'UTR	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	657	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		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)		GCACAGTTTCCACAGTTTTATG	0.525													-	31234038	CA	-	31234037	7	5	279	1	0	1	0	1	0	0	0	0	9939	595	21	0	367	0	MTMR10	15	31234037	Frame_Shift_Del	DEL	CA	TCGA-HU-A4H3-01A-21D-A25D-08	7422632	31234037	71297355	752	143745											
RYR3	6263	broad.mit.edu	37	chr15	33873717	33873717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttctcagggaatgttGgcccttgtcttaaattgcat	8	10	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:33873717G>A	uc001zhi.2	+	14	1516	c.1446G>A	c.(1444-1446)TTG>TTA	p.L482L	RYR3_uc010bar.2_Silent_p.L482L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	482	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		AGGGAATGTTGGCCCTTGTCT	0.438													A	33873717	G	A	33873717	2	1	279	1	0	0	0	0	0	0	0	1	13770	1339	47	4		4	RYR3	15	33873717	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2639680	33873717	68657675	753	143746											
RYR3	6263	broad.mit.edu	37	chr15	33893731	33893731	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctactcctgcagacaCgactgattaacgatgtaacc	7	12	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:33893731C>T	uc001zhi.2	+	17	1970	c.1900C>T	c.(1900-1902)CGA>TGA	p.R634*	RYR3_uc010bar.2_Nonsense_Mutation_p.R634*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	634	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		CCTGCAGACACGACTGATTAA	0.527													T	33893731	C	T	33893731	4	4	279	1	0	0	0	0	0	1	0	0	13770	528	19	1	1966	1	RYR3	15	33893731	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	20014	33893731	68637661	754	143747											
C15orf55	256646	broad.mit.edu	37	chr15	34649312	34649312	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggaaaggagaaaaagAaaaaggaagcagaggaagag	14	3	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:34649312A>T	uc001zif.2	+	7	3174	c.3019A>T	c.(3019-3021)AAA>TAA	p.K1007*	C15orf55_uc010ucc.1_Nonsense_Mutation_p.K1035*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.K1025*	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1007						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGAGAAAAAGAAAAAGGAAGC	0.478			T	BRD3|BRD4	lethal midline carcinoma								T	34649312	A	T	34649312	4	4	279	1	0	0	0	0	0	1	0	0	1803	247	9	5	3045	5	C15orf55	15	34649312	Nonsense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	755581	34649312	67882080	755	143748											
C15orf55	256646	broad.mit.edu	37	chr15	34649327	34649327	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaaagaaaaaggaagcagagGaagaggatgaggaactctcc	13	5	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:34649327G>C	uc001zif.2	+	7	3189	c.3034G>C	c.(3034-3036)GAA>CAA	p.E1012Q	C15orf55_uc010ucc.1_Missense_Mutation_p.E1040Q|C15orf55_uc010ucd.1_Missense_Mutation_p.E1030Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1012						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGAAGCAGAGGAAGAGGATGA	0.488			T	BRD3|BRD4	lethal midline carcinoma								C	34649327	G	C	34649327	3	2	279	1	0	0	0	0	1	0	0	0	1803	1175	41	5	3060	5	C15orf55	15	34649327	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	15	34649327	67882065	756	143749											
C15orf23	90417	broad.mit.edu	37	chr15	40678643	40678643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaaacagcttcattcaGgaggtccagagaatgatgtt	9	8	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:40678643G>A	uc001zll.2	+	3	500	c.385G>A	c.(385-387)GGA>AGA	p.G129R	C15orf23_uc010ucp.1_Missense_Mutation_p.G129R|C15orf23_uc001zlo.2_Missense_Mutation_p.G129R|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	129						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GCTTCATTCAGGAGGTCCAGA	0.423													A	40678643	G	A	40678643	3	1	279	1	0	0	0	0	1	0	0	0	1785	1001	35	4	395	4	C15orf23	15	40678643	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	6029316	40678643	61852749	757	143750											
NUSAP1	51203	broad.mit.edu	37	chr15	41667943	41667943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttgacaactgaggcaaCgcagactccagtctccaata	8	12	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:41667943C>T	uc001zns.3	+	9	1270	c.1040C>T	c.(1039-1041)ACG>ATG	p.T347M	NUSAP1_uc001znq.3_Intron|NUSAP1_uc001znr.3_Missense_Mutation_p.T346M|NUSAP1_uc010bce.2_Intron|NUSAP1_uc001znt.3_Missense_Mutation_p.T332M|NUSAP1_uc001znv.3_Missense_Mutation_p.T345M|NUSAP1_uc001znu.3_Missense_Mutation_p.T346M|NUSAP1_uc010ucw.1_Intron|NUSAP1_uc001znw.3_Missense_Mutation_p.T151M	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	347	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		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)		ACTGAGGCAACGCAGACTCCA	0.393													T	41667943	C	T	41667943	3	4	279	1	0	0	0	0	1	0	0	0	10778	536	19	1	1074	1	NUSAP1	15	41667943	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	989300	41667943	60863449	758	143751											
MGA	23269	broad.mit.edu	37	chr15	42042041	42042041	+	Frame_Shift_Del	DEL	A	A	-													gaatcgtaagagttccaaagAaaaagtggctgttctggaag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:42042041delA	uc010ucy.1	+	17	6417	c.6236delA	c.(6235-6237)GAAfs	p.E2079fs	MGA_uc010ucz.1_Frame_Shift_Del_p.E1870fs|MGA_uc010uda.1_Frame_Shift_Del_p.E695fs|MGA_uc001zoi.2_Frame_Shift_Del_p.E293fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2040	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		AGTTCCAAAGAAAAAGTGGCT	0.368													-	42042041	A	-	42042041	7	5	279	1	0	1	0	1	0	0	0	0	9540	246	9	0	6298	0	MGA	15	42042041	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	374098	42042041	60489351	759	143752											
PLA2G4D	283748	broad.mit.edu	37	chr15	42377688	42377688	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgtgacattactcaCgtttcttccatcaggaactc	9	11	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:42377688C>T	uc001zox.2	-	5	523	c.428_splice	c.e5+1	p.T143_splice		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD						phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		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)		ACATTACTCACGTTTCTTCCA	0.502													T	42377688	C	T	42377688	5	4	279	1	0	0	0	0	0	0	1	0	12004	550	19	1	2091	1	PLA2G4D	15	42377688	Splice_Site	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	335647	42377688	60153704	760	143753											
SLC24A5	283652	broad.mit.edu	37	chr15	48413289	48413289	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgagaagggctctgttgctCggcatcctgtgggccactgc	15	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:48413289C>T	uc001zwe.2	+	1	121	c.48C>T	c.(46-48)CTC>CTT	p.L16L	SLC24A5_uc001zwd.2_Silent_p.L16L|SLC24A5_uc010bel.2_Silent_p.L16L	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	16					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCTGTTGCTCGGCATCCTGT	0.587													T	48413289	C	T	48413289	2	4	279	1	0	0	0	0	0	0	0	1	14469	871	31	1		1	SLC24A5	15	48413289	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6035601	48413289	54118103	761	143754											
ATP8B4	79895	broad.mit.edu	37	chr15	50264853	50264853	+	Frame_Shift_Del	DEL	A	A	-													gggtacccgttttgtcggagAaaatgtactcaatctgcccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:50264853delA	uc001zxu.2	-	13	1311	c.1169delT	c.(1168-1170)TTCfs	p.F390fs	ATP8B4_uc010ber.2_Frame_Shift_Del_p.F263fs|ATP8B4_uc010ufd.1_Frame_Shift_Del_p.F263fs|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	390	Cytoplasmic (Potential).				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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTGTCGGAGAAAATGTACTC	0.423													-	50264853	A	-	50264853	7	5	279	1	0	1	0	1	0	0	0	0	1197	246	9	0	2473	0	ATP8B4	15	50264853	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	1851564	50264853	52266539	762	143755											
TMOD2	29767	broad.mit.edu	37	chr15	52075001	52075001	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttcagcctggccgcaacTcgcagcaatgaccctgtggc	11	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:52075001T>C	uc002abk.2	+	7	929	c.708T>C	c.(706-708)ACT>ACC	p.T236T	TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Silent_p.T192T	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	236					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		TGGCCGCAACTCGCAGCAATG	0.413													C	52075001	T	C	52075001	2	2	279	1	0	0	0	0	0	0	0	1	16231	1538	54	3		3	TMOD2	15	52075001	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1810148	52075001	50456391	763	143756											
UNC13C	440279	broad.mit.edu	37	chr15	54825154	54825154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtataaaacagatgagTttcgaactaaatcaaatgag	9	4	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:54825154T>C	uc002ack.2	+	24	5586	c.5586T>C	c.(5584-5586)AGT>AGC	p.S1862S		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1862					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAGATGAGTTTCGAACTAA	0.308													C	54825154	T	C	54825154	2	2	279	1	0	0	0	0	0	0	0	1	16983	1722	60	3		3	UNC13C	15	54825154	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2750153	54825154	47706238	764	143757											
RFX7	64864	broad.mit.edu	37	chr15	56436614	56436614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataccttttctctccattgCtgagaccagaaggcagctga	8	11	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:56436614C>T	uc010bfn.2	-	3	263	c.263G>A	c.(262-264)AGC>AAC	p.S88N		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						CTCTCCATTGCTGAGACCAGA	0.358													T	56436614	C	T	56436614	3	4	279	1	0	0	0	0	1	0	0	0	13268	797	28	2	4147	2	RFX7	15	56436614	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1611460	56436614	46094778	765	143758											
PARP16	54956	broad.mit.edu	37	chr15	65555515	65555515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtttggcacttgacgtcCggatggtcaatgacctcaca	11	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:65555515C>T	uc002aoo.2	-	4	917	c.663G>A	c.(661-663)CCG>CCA	p.P221P	PARP16_uc002aop.2_Silent_p.P106P|PARP16_uc002aoq.2_Silent_p.P221P	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	221	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						ACTTGACGTCCGGATGGTCAA	0.607													T	65555515	C	T	65555515	2	4	279	1	0	0	0	0	0	0	0	1	11460	639	23	1		1	PARP16	15	65555515	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	9118901	65555515	36975877	766	143759											
STOML1	9399	broad.mit.edu	37	chr15	74277088	74277088	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccgacttggctgaccagGgcctcagacaggaagggctg	15	13	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:74277088G>T	uc002awe.2	-	6	986	c.915C>A	c.(913-915)GCC>GCA	p.A305A	STOML1_uc002awf.2_Silent_p.A304A|STOML1_uc010bje.2_Intron|STOML1_uc010uld.1_Silent_p.A262A|STOML1_uc002awh.2_Silent_p.A255A|STOML1_uc002awg.2_Silent_p.A254A|STOML1_uc002awi.2_Silent_p.A217A	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	305	Cytoplasmic (Potential).|SCP2.					integral to membrane	sterol binding			skin(1)	1						GGCTGACCAGGGCCTCAGACA	0.632													T	74277088	G	T	74277088	2	4	279	1	0	0	0	0	0	0	0	1	15312	1219	43	5		5	STOML1	15	74277088	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	8721573	74277088	28254304	767	143760											
CYP1A1	1543	broad.mit.edu	37	chr15	75013634	75013634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggatctgtcagagagccGgggccgccgtgacctgccaa	15	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:75013634G>A	uc002ayp.3	-	5	1194	c.1072C>T	c.(1072-1074)CGG>TGG	p.R358W	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.R94W|CYP1A1_uc010bjx.2_Missense_Mutation_p.R94W|CYP1A1_uc002ayq.3_Missense_Mutation_p.R358W|CYP1A1_uc010bjy.2_Missense_Mutation_p.R358W|CYP1A1_uc010bjz.1_Missense_Mutation_p.R94W	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	358					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			ovary(2)|breast(2)|pancreas(1)	5					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)	TCAGAGAGCCGGGGCCGCCGT	0.602									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				A	75013634	G	A	75013634	3	1	279	1	0	0	0	0	1	0	0	0	4149	1115	39	1	478	1	CYP1A1	15	75013634	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	736546	75013634	27517758	768	143761											
CIB2	10518	broad.mit.edu	37	chr15	78401674	78401674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgaaagtgaggttcccCtcaccatcctcggaaaacgc	9	13	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:78401674C>A	uc002bdb.1	-	4	570	c.249G>T	c.(247-249)GAG>GAT	p.E83D	CIB2_uc002bdc.1_Missense_Mutation_p.E40D|CIB2_uc010ums.1_Missense_Mutation_p.E83D	NM_006383	NP_006374	O75838	CIB2_HUMAN	DNA-dependent protein kinase catalytic	83	EF-hand 1.						calcium ion binding				0						TGAGGTTCCCCTCACCATCCT	0.512													A	78401674	C	A	78401674	3	1	279	1	0	0	0	0	1	0	0	0	3421	680	24	5	326	5	CIB2	15	78401674	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3388040	78401674	24129718	769	143762											
CHRNB4	1143	broad.mit.edu	37	chr15	78927807	78927807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataagctgggccagggagaGctgcagcttgatggagatga	17	6	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:78927807G>A	uc002bed.1	-	2	290	c.178C>T	c.(178-180)CTC>TTC	p.L60F	CHRNB4_uc002bee.1_Missense_Mutation_p.L60F|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	60	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GCCAGGGAGAGCTGCAGCTTG	0.507													A	78927807	G	A	78927807	3	1	279	1	0	0	0	0	1	0	0	0	3393	971	34	2	1338	2	CHRNB4	15	78927807	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	526133	78927807	23603585	770	143763											
ADAMTS7	11173	broad.mit.edu	37	chr15	79092719	79092719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtcaggttgaagcgcaGctcgcgcccgcggtattgta	16	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:79092719G>A	uc002bej.3	-	2	482	c.271C>T	c.(271-273)CTG>TTG	p.L91L	ADAMTS7_uc010und.1_Silent_p.L91L|ADAMTS7_uc002bek.1_Silent_p.L91L	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	91					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						TTGAAGCGCAGCTCGCGCCCG	0.567													A	79092719	G	A	79092719	2	1	279	1	0	0	0	0	0	0	0	1	271	962	34	2		2	ADAMTS7	15	79092719	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	164912	79092719	23438673	771	143764											
MEX3B	84206	broad.mit.edu	37	chr15	82336037	82336037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagcaggaagaagataCcggagctgcaggtccgcctc	14	10	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:82336037C>T	uc002bgq.1	-	2	1489	c.1174G>A	c.(1174-1176)GTA>ATA	p.V392I		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	392					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						gaagaagaTACCGGAGCTGCA	0.547													T	82336037	C	T	82336037	3	4	279	1	0	0	0	0	1	0	0	0	9510	507	18	4	539	4	MEX3B	15	82336037	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3243318	82336037	20195355	772	143765											
SH3GL3	6457	broad.mit.edu	37	chr15	84245409	84245409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtaggtaagataccagaCgaagaagtcagacaagcggt	13	7	1	4	rs138675150	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:84245409C>T	uc002bjw.2	+	6	735	c.540C>T	c.(538-540)GAC>GAT	p.D180D	SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.2_Silent_p.D111D|SH3GL3_uc002bju.2_Silent_p.D188D|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	180	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						AGATACCAGACGAAGAAGTCA	0.383													T	84245409	C	T	84245409	2	4	279	1	0	0	0	0	0	0	0	1	14252	535	19	1		1	SH3GL3	15	84245409	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1909372	84245409	18285983	773	143766											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84373227	84373227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctggaagacacaacaggGgagcagttcctcacttatcg	10	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:84373227G>A	uc002bjz.3	+	3	380	c.156G>A	c.(154-156)GGG>GGA	p.G52G	ADAMTSL3_uc002bjy.1_Silent_p.G52G|ADAMTSL3_uc010bmt.1_Silent_p.G52G|ADAMTSL3_uc010bmu.1_Silent_p.G52G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	52						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACAACAGGGGAGCAGTTCC	0.463													A	84373227	G	A	84373227	2	1	279	1	0	0	0	0	0	0	0	1	276	1219	43	4		4	ADAMTSL3	15	84373227	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	127818	84373227	18158165	774	143767											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84657541	84657541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctaatcatcttggttcagAtgtggaaagttcttctgtgc	10	7	5	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:84657541A>G	uc002bjz.3	+	22	4039	c.3815A>G	c.(3814-3816)GAT>GGT	p.D1272G	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1272G|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1272G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1272	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGGTTCAGATGTGGAAAGT	0.323													G	84657541	A	G	84657541	3	3	279	1	0	0	0	0	1	0	0	0	276	333	12	3	3897	3	ADAMTSL3	15	84657541	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	284314	84657541	17873851	775	143768											
ALPK3	57538	broad.mit.edu	37	chr15	85400267	85400268	+	Frame_Shift_Ins	INS	-	-	A													cagaagggtcttgtttcccaINSaaaaaacctggttgcctgcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:85400266_85400267C>CA	uc002ble.3	+	5	3070_3071	c.2903_2904C>CA	c.(2902-2904)ccafs	p.P968fs		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	968					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)			TCTTGTTTCCCAAAAAAACCTG	0.54													A	85400268	-	A	85400267	7	5	279	1	0	1	1	0	0	0	0	0	546	117	5	0	2926	0	ALPK3	15	85400267	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	742726	85400267	17131125	776	143769											
ALPK3	57538	broad.mit.edu	37	chr15	85400994	85400994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggctgggcttagtcccCggacatcgaggcgcatcctg	14	12	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:85400994C>T	uc002ble.2	+	6	3798	c.3631C>T	c.(3631-3633)CGG>TGG	p.R1211W		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1211					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTTAGTCCCCGGACATCGAG	0.662													T	85400994	C	T	85400994	3	4	279	1	0	0	0	0	1	0	0	0	546	643	23	1	3653	1	ALPK3	15	85400994	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	727	85400994	17130398	777	143770											
MRPS11	64963	broad.mit.edu	37	chr15	89020237	89020237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagagctaaacaaaagggCgtgatccacatccgagttgt	11	9	0	2	rs149594277	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:89020237C>T	uc002bml.2	+	5	694	c.429C>T	c.(427-429)GGC>GGT	p.G143G	MRPS11_uc002bmm.2_Silent_p.G110G|MRPS11_uc002bmn.2_Silent_p.G142G|MRPS11_uc010bnj.2_RNA	NM_022839	NP_073750	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11 isoform a	143					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AACAAAAGGGCGTGATCCACA	0.507											OREG0023439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	89020237	C	T	89020237	2	4	279	1	0	0	0	0	0	0	0	1	9822	755	27	1		1	MRPS11	15	89020237	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3619243	89020237	13511155	778	143771											
CRTC3	64784	broad.mit.edu	37	chr15	91172715	91172715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcacatcaaggtttcaGcagacagctgtcttcaacca	8	11	4	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:91172715G>A	uc002bpp.2	+	11	1323	c.1217G>A	c.(1216-1218)AGC>AAC	p.S406N	CRTC3_uc002bpo.2_Missense_Mutation_p.S406N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	406					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAAGGTTTCAGCAGACAGCTG	0.562			T	MAML2	salivary gland mucoepidermoid								A	91172715	G	A	91172715	3	1	279	1	0	0	0	0	1	0	0	0	3901	971	34	2	1259	2	CRTC3	15	91172715	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2152478	91172715	11358677	779	143772											
MCTP2	55784	broad.mit.edu	37	chr15	94858782	94858782	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggaagccagtgatggcTtgagtaacctccccagccct	13	13	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:94858782T>C	uc002btj.2	+	3	618	c.553T>C	c.(553-555)TTG>CTG	p.L185L	MCTP2_uc010urg.1_Silent_p.L185L|MCTP2_uc002bti.2_Silent_p.L185L|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Silent_p.L185L|MCTP2_uc002btg.3_Silent_p.L185L|MCTP2_uc002bth.3_Silent_p.L185L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	185	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGTGATGGCTTGAGTAACCT	0.527													C	94858782	T	C	94858782	2	2	279	1	0	0	0	0	0	0	0	1	9401	1606	56	3		3	MCTP2	15	94858782	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3686067	94858782	7672610	780	143773											
IGF1R	3480	broad.mit.edu	37	chr15	99442794	99442794	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgccattctcatgccttggtCtccttgtccttcctaaaaaa	5	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:99442794C>T	uc002bul.2	+	5	1241	c.1191C>T	c.(1189-1191)GTC>GTT	p.V397V	IGF1R_uc010urq.1_Silent_p.V397V|IGF1R_uc010bon.2_Silent_p.V397V	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	397					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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	ATGCCTTGGTCTCCTTGTCCT	0.473													T	99442794	C	T	99442794	2	4	279	1	0	0	0	0	0	0	0	1	7571	900	32	4		4	IGF1R	15	99442794	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4584012	99442794	3088598	781	143774											
LRRC28	123355	broad.mit.edu	37	chr15	99926275	99926275	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttactgctgctccaccCagtgtctgcagacttttgac	9	13	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:99926275C>T	uc002bva.1	+	10	1227	c.1072C>T	c.(1072-1074)CAG>TAG	p.Q358*	LRRC28_uc002bvb.1_Nonsense_Mutation_p.Q204*|LRRC28_uc010urt.1_Nonsense_Mutation_p.Q172*|LRRC28_uc002bvc.1_Silent_p.P304P|LRRC28_uc010uru.1_Nonsense_Mutation_p.Q289*|LRRC28_uc002bvd.1_Nonsense_Mutation_p.Q84*	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	358											0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CTGCTCCACCCAGTGTCTGCA	0.493													T	99926275	C	T	99926275	4	4	279	1	0	0	0	0	0	1	0	0	8982	595	21	4	1106	4	LRRC28	15	99926275	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	483481	99926275	2605117	782	143775											
ADAMTS17	170691	broad.mit.edu	37	chr15	100692871	100692871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggatctggcactgctcGttggcactgtagtgcatgcc	12	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr15:100692871G>A	uc002bvv.1	-	10	1498	c.1419C>T	c.(1417-1419)AAC>AAT	p.N473N	ADAMTS17_uc002bvx.1_Silent_p.N230N	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	473	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCACTGCTCGTTGGCACTGT	0.587													A	100692871	G	A	100692871	2	1	279	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100692871	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	766596	100692871	1838521	783	143776											
WDR90	197335	broad.mit.edu	37	chr16	700674	700674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgccagcctgctggtcaGgaacctgtacaccagtgacc	12	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:700674G>T	uc002cii.1	+	5	578	c.524G>T	c.(523-525)AGG>ATG	p.R175M	WDR90_uc002cig.1_Missense_Mutation_p.R175M|WDR90_uc002cih.1_Missense_Mutation_p.R175M|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	175										ovary(1)	1		Hepatocellular(780;0.0218)				CTGCTGGTCAGGAACCTGTAC	0.612													T	700674	G	T	700674	3	4	279	1	0	0	0	0	1	0	0	0	17334	1000	35	5	542	5	WDR90	16	700674	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		700674	89654079	784	143777											
BAIAP3	8938	broad.mit.edu	37	chr16	1392008	1392008	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcatgacgacgatgtatcCctggtagaagcgtgcaggaa	13	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:1392008C>A	uc002clk.1	+	10	903	c.903C>A	c.(901-903)TCC>TCA	p.S301S	BAIAP3_uc002clj.2_Silent_p.S283S|BAIAP3_uc010uuz.1_Silent_p.S266S|BAIAP3_uc010uva.1_Silent_p.S238S|BAIAP3_uc010uvb.1_Silent_p.S318S|BAIAP3_uc010uvc.1_Silent_p.S266S	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	301	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ACGATGTATCCCTGGTAGAAG	0.622													A	1392008	C	A	1392008	2	1	279	1	0	0	0	0	0	0	0	1	1304	610	22	5		5	BAIAP3	16	1392008	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	691334	1392008	88962745	785	143778											
CCNF	899	broad.mit.edu	37	chr16	2506911	2506911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagtcatgtttacagtgtCgtcccccaagtcccccggag	11	13	1	0	rs142532028	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:2506911C>T	uc002cqd.1	+	17	2339	c.2251C>T	c.(2251-2253)CGT>TGT	p.R751C	CCNF_uc002cqe.1_Missense_Mutation_p.R443C	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	751	PEST.				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			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TTTACAGTGTCGTCCCCCAAG	0.587													T	2506911	C	T	2506911	3	4	279	1	0	0	0	0	1	0	0	0	2922	884	31	1	2317	1	CCNF	16	2506911	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1114903	2506911	87847842	786	143779											
ADCY9	115	broad.mit.edu	37	chr16	4164837	4164837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccgtaaggttggagctgtCgccgcgtcctgagacaggcg	17	11	0	1	rs143296765	by1000genomes	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:4164837C>T	uc002cvx.2	-	2	1146	c.607G>A	c.(607-609)GAC>AAC	p.D203N		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	203	Extracellular (Potential).				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			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TTGGAGCTGTCGCCGCGTCCT	0.597													T	4164837	C	T	4164837	3	4	279	1	0	0	0	0	1	0	0	0	301	884	31	1	3494	1	ADCY9	16	4164837	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1657926	4164837	86189916	787	143780											
GLIS2	84662	broad.mit.edu	37	chr16	4386992	4386992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgacggcggcccctatGtcagtggggcccagatcatc	12	17	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:4386992G>A	uc002cwc.1	+	6	1099	c.1042G>A	c.(1042-1044)GTC>ATC	p.V348I		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	348					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CGGCCCCTATGTCAGTGGGGC	0.701													A	4386992	G	A	4386992	3	1	279	1	0	0	0	0	1	0	0	0	6446	1377	48	4	1064	4	GLIS2	16	4386992	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	222155	4386992	85967761	788	143781											
TXNDC11	51061	broad.mit.edu	37	chr16	11781746	11781746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtccatgggcaggttcCgagctagctggatgaagatg	15	7	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:11781746C>T	uc010buu.1	-	11	2263	c.2201G>A	c.(2200-2202)CGG>CAG	p.R734Q	TXNDC11_uc002dbg.1_Missense_Mutation_p.R707Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	734	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						GGGCAGGTTCCGAGCTAGCTG	0.527													T	11781746	C	T	11781746	3	4	279	1	0	0	0	0	1	0	0	0	16789	652	23	1	768	1	TXNDC11	16	11781746	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7394754	11781746	78573007	789	143782											
TMC5	79838	broad.mit.edu	37	chr16	19498596	19498596	+	Frame_Shift_Del	DEL	T	T	-													ctttcttcatcttcttgctcTttttcccatccttcaccggg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:19498596delT	uc002dgc.3	+	17	3270	c.2521delT	c.(2521-2523)TTTfs	p.F841fs	TMC5_uc010vaq.1_Frame_Shift_Del_p.F789fs|TMC5_uc002dgb.3_Frame_Shift_Del_p.F841fs|TMC5_uc010var.1_Frame_Shift_Del_p.F841fs|TMC5_uc002dgd.1_Frame_Shift_Del_p.F595fs|TMC5_uc002dge.3_Frame_Shift_Del_p.F595fs|TMC5_uc002dgf.3_Frame_Shift_Del_p.F524fs|TMC5_uc002dgg.3_Frame_Shift_Del_p.F482fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	841	Helical; (Potential).					integral to membrane				skin(1)	1						CTTCTTGCTCTTTTTCCCATC	0.547													-	19498596	T	-	19498596	7	5	279	1	0	1	0	1	0	0	0	0	15985	1609	56	0	2893	0	TMC5	16	19498596	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	7716850	19498596	70856157	790	143783											
C16orf88	400506	broad.mit.edu	37	chr16	19725566	19725566	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctttttctttgcggaGgccttagggtcatcacttat	8	9	5	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:19725566G>T	uc002dgq.2	-	2	807	c.792C>A	c.(790-792)GCC>GCA	p.A264A	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	264	Lys-rich.					nucleolus					0						TCTTTGCGGAGGCCTTAGGGT	0.478													T	19725566	G	T	19725566	2	4	279	1	0	0	0	0	0	0	0	1	1841	987	35	5		5	C16orf88	16	19725566	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	226970	19725566	70629187	791	143784											
PLK1	5347	broad.mit.edu	37	chr16	23701273	23701275	+	In_Frame_Del	DEL	GGA	GGA	-													acataccgcctgagtctcctGgaggagtacggctgctgcaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:23701272_23701274TGGA>T	uc002dlz.1	+	9	1753_1755	c.1700_1702TGGA>T	c.(1699-1704)ctggag>cTag	p.E569del		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	569	POLO box 2.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|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	ATP binding|anaphase-promoting complex 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)		CTGAGTCTCCTGGAGGAGTACGG	0.616													-	23701275	GGA	-	23701273	7	5	279	1	0	1	0	1	0	0	0	0	12094	1335	47	0	1739	0	PLK1	16	23701273	In_Frame_Del	DEL	GGA	TCGA-HU-A4H3-01A-21D-A25D-08	3975707	23701273	66653480	792	143785											
PRKCB	5579	broad.mit.edu	37	chr16	24046762	24046762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgatgaatgtgcacaaGcgctgcgtgatgaatgttcc	12	8	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:24046762G>A	uc002dmd.2	+	5	620	c.423G>A	c.(421-423)AAG>AAA	p.K141K	PRKCB_uc002dme.2_Silent_p.K141K	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	141	Phorbol-ester/DAG-type 2.				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			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	ATGTGCACAAGCGCTGCGTGA	0.632													A	24046762	G	A	24046762	2	1	279	1	0	0	0	0	0	0	0	1	12508	962	34	2		2	PRKCB	16	24046762	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	345489	24046762	66307991	793	143786											
IL21R	50615	broad.mit.edu	37	chr16	27441397	27441397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgggagtcagcatgcCgcgtggctgggccgccccct	16	16	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:27441397C>T	uc002doq.1	+	2	238	c.5C>T	c.(4-6)CCG>CTG	p.P2L	IL21R_uc002dor.1_Missense_Mutation_p.P2L|IL21R_uc002dos.1_Missense_Mutation_p.P2L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	2					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GTCAGCATGCCGCGTGGCTGG	0.701			T	BCL6	NHL								T	27441397	C	T	27441397	3	4	279	1	0	0	0	0	1	0	0	0	7671	652	23	1	7	1	IL21R	16	27441397	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3394635	27441397	62913356	794	143787											
ZNF688	146542	broad.mit.edu	37	chr16	30581665	30581665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagggttgcgttccaccaGcacttcaggactctccttca	9	14	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:30581665G>A	uc002dyt.2	-	3	1181	c.403C>T	c.(403-405)CTG>TTG	p.L135L	ZNF688_uc002dys.2_Silent_p.L121L|uc002dyu.2_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	zinc finger protein 688 isoform a	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGTTCCACCAGCACTTCAGGA	0.602													A	30581665	G	A	30581665	2	1	279	1	0	0	0	0	0	0	0	1	18090	962	34	2		2	ZNF688	16	30581665	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3140268	30581665	59773088	795	143788											
ZNF646	9726	broad.mit.edu	37	chr16	31091327	31091327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcagagccaccagaccGgccactttggctgtcaggcc	12	16	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:31091327G>A	uc002eap.2	+	2	3971	c.3682G>A	c.(3682-3684)GGC>AGC	p.G1228S		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CCACCAGACCGGCCACTTTGG	0.627													A	31091327	G	A	31091327	3	1	279	1	0	0	0	0	1	0	0	0	18059	1116	39	1	3684	1	ZNF646	16	31091327	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	509662	31091327	59263426	796	143789											
TGFB1I1	7041	broad.mit.edu	37	chr16	31485172	31485172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcacggtatgcaagcctCggtccccaaagcctgcagcc	10	17	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:31485172C>T	uc002ecd.1	+	4	225	c.199C>T	c.(199-201)CGG>TGG	p.R67W	TGFB1I1_uc002ece.1_Missense_Mutation_p.R50W|TGFB1I1_uc010caq.1_5'UTR	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	67	Transcription activation (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0						ATGCAAGCCTCGGTCCCCAAA	0.632													T	31485172	C	T	31485172	3	4	279	1	0	0	0	0	1	0	0	0	15814	875	31	1	213	1	TGFB1I1	16	31485172	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	393845	31485172	58869581	797	143790											
SALL1	6299	broad.mit.edu	37	chr16	51175644	51175646	+	In_Frame_Del	DEL	GCC	GCC	-													gaggtacctgtggaggagctGccgccgccgccgctgctgct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:51175643_51175645TGCC>T	uc021tif.1	-	1	519_521	c.197_199GGCA>A	c.(196-201)ggcagc>gAgc	p.66_67GS>E	SALL1_uc021tid.1_In_Frame_Del_p.66_67GS>E|SALL1_uc021tie.1_In_Frame_Del_p.163_164GS>E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	163					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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T66P(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)			GTGGAGGAgctgccgccgccgcc	0.611													-	51175646	GCC	-	51175644	7	5	279	1	0	1	0	1	0	0	0	0	13810	1306	46	0	3493	0	SALL1	16	51175644	In_Frame_Del	DEL	GCC	TCGA-HU-A4H3-01A-21D-A25D-08	19690472	51175644	39179109	798	143791											
AKTIP	64400	broad.mit.edu	37	chr16	53534205	53534205	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagaaagtcagtggtgTatcatccaaatcttctgtct	7	8	5	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:53534205T>C	uc002ehk.2	-	2	178	c.-33A>G	c.(-35--31)ATACA>ATGCA		AKTIP_uc002ehl.2_Translation_Start_Site|AKTIP_uc002ehm.2_Translation_Start_Site|AKTIP_uc010vgx.1_Translation_Start_Site	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)				GTCAGTGGTGTATCATCCAAA	0.368													C	53534205	T	C	53534205	1	2	279	1	0	0	0	0	0	0	0	0	482	1653	57	3		3	AKTIP	16	53534205	Translation_Start_Site	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2358561	53534205	36820548	799	143792											
KATNB1	10300	broad.mit.edu	37	chr16	57789031	57789031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagtttcacactttcagCtggaggtcctgccccggccc	11	15	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:57789031C>T	uc002eml.1	+	15	1671	c.1297C>T	c.(1297-1299)CTG>TTG	p.L433L		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	433	Interaction with KATNA1 and NDEL1 (By similarity).|Interaction with PAFAH1B1 (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				0		all_neural(199;0.223)				ACACTTTCAGCTGGAGGTCCT	0.667													T	57789031	C	T	57789031	2	4	279	1	0	0	0	0	0	0	0	1	7987	811	28	2		2	KATNB1	16	57789031	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4254826	57789031	32565722	800	143793											
CDH16	1014	broad.mit.edu	37	chr16	66949216	66949216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggctcaggatgtggaatcGaagatccgagttggctgtgc	15	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:66949216G>A	uc002eql.2	-	6	563	c.490C>T	c.(490-492)CGA>TGA	p.R164*	CDH16_uc010cdy.2_Nonsense_Mutation_p.R164*|CDH16_uc002eqm.2_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	164	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATGTGGAATCGAAGATCCGAG	0.617													A	66949216	G	A	66949216	4	1	279	1	0	0	0	0	0	1	0	0	3101	1066	37	1	2051	1	CDH16	16	66949216	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	9160185	66949216	23405537	801	143794											
TERF2	7014	broad.mit.edu	37	chr16	69400774	69400774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggatggtggcgctgaagCggcctcctgggaggagttga	18	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:69400774C>T	uc002exd.2	-	7	1275	c.1150G>A	c.(1150-1152)GCT>ACT	p.A384T		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	384					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			lung(1)	1		Ovarian(137;0.101)				GGCGCTGAAGCGGCCTCCTGG	0.557													T	69400774	C	T	69400774	3	4	279	1	0	0	0	0	1	0	0	0	15759	768	27	1	368	1	TERF2	16	69400774	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2451558	69400774	20953979	802	143795											
MTSS1L	92154	broad.mit.edu	37	chr16	70698147	70698147	+	Frame_Shift_Del	DEL	G	G	-													cggcggatggtggccacgccGgggggtgcgcccgagggcag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:70698147delG	uc002ezj.2	-	15	1937	c.1677delC	c.(1675-1677)CCCfs	p.P559fs		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	559					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						TGGCCACGCCGGGGGGTGCGC	0.761													-	70698147	G	-	70698147	7	5	279	1	0	1	0	1	0	0	0	0	9963	1103	39	0	570	0	MTSS1L	16	70698147	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1297373	70698147	19656606	803	143796											
HYDIN	54768	broad.mit.edu	37	chr16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgatcttcttgggccGcacagactctccagcgcgaa	11	12	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:70841641G>A	uc002ezr.2	-	86	15333	c.15205C>T	c.(15205-15207)CGG>TGG	p.R5069W	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5070										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													A	70841641	G	A	70841641	3	1	279	1	0	0	0	0	1	0	0	0	7467	1086	38	1	161	1	HYDIN	16	70841641	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	143494	70841641	19513112	804	143797											
TAT	6898	broad.mit.edu	37	chr16	71602123	71602123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctggatccggctgcacGcctccagcatcatcacctcg	8	18	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:71602123G>A	uc002fap.2	-	12	1388	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	430					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCGGCTGCACGCCTCCAGCAT	0.507													A	71602123	G	A	71602123	3	1	279	1	0	0	0	0	1	0	0	0	15587	1087	38	1	79	1	TAT	16	71602123	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	760482	71602123	18752630	805	143798											
PHLPP2	23035	broad.mit.edu	37	chr16	71724517	71724517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagaggacaactaggcGctcagcccacttatgcagct	9	14	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:71724517G>A	uc002fax.2	-	3	520	c.514C>T	c.(514-516)CGC>TGC	p.R172C	PHLPP2_uc010cgf.2_Missense_Mutation_p.R172C|PHLPP2_uc002fay.1_Missense_Mutation_p.R172C	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	172	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						ACAACTAGGCGCTCAGCCCAC	0.468													A	71724517	G	A	71724517	3	1	279	1	0	0	0	0	1	0	0	0	11855	1087	38	1	3521	1	PHLPP2	16	71724517	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	122394	71724517	18630236	806	143799											
GLG1	2734	broad.mit.edu	37	chr16	74496029	74496029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagctgaggatccaggCggtagtccagggcggactcc	17	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:74496029C>T	uc002fcy.3	-	22	3049	c.2999G>A	c.(2998-3000)CGC>CAC	p.R1000H	GLG1_uc002fcx.2_Missense_Mutation_p.R1000H|GLG1_uc002fcw.3_Missense_Mutation_p.R989H|GLG1_uc002fcz.3_Missense_Mutation_p.R417H	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	1000	Extracellular (Potential).|Cys-rich GLG1 15.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						AGGATCCAGGCGGTAGTCCAG	0.537													T	74496029	C	T	74496029	3	4	279	1	0	0	0	0	1	0	0	0	6436	768	27	1	640	1	GLG1	16	74496029	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2771512	74496029	15858724	807	143800											
GLG1	2734	broad.mit.edu	37	chr16	74519764	74519764	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagcttcattcaaagctcGatcaatgcggtaatctgcac	7	11	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:74519764G>A	uc002fcy.3	-	9	1551	c.1501C>T	c.(1501-1503)CGA>TGA	p.R501*	GLG1_uc002fcx.2_Nonsense_Mutation_p.R501*|GLG1_uc002fcw.3_Nonsense_Mutation_p.R490*|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	501	Extracellular (Potential).|Cys-rich GLG1 7.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						TTCAAAGCTCGATCAATGCGG	0.388													A	74519764	G	A	74519764	4	1	279	1	0	0	0	0	0	1	0	0	6436	1066	37	1	2190	1	GLG1	16	74519764	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	23735	74519764	15834989	808	143801											
TAF1C	9013	broad.mit.edu	37	chr16	84213037	84213037	+	Frame_Shift_Del	DEL	G	G	-													ctaggcctgactcgggtgcaGggggtggctctgccgcaggg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:84213036_84213036AG>A	uc002fhn.3	-	13	2363	c.2121_2121CT>T	c.(2119-2121)cctfs	p.P707fs	TAF1C_uc010vnz.2_Frame_Shift_Del_p.P375fs|TAF1C_uc002fho.3_Frame_Shift_Del_p.P230fs|TAF1C_uc010voa.2_Frame_Shift_Del_p.P375fs|TAF1C_uc002fhm.3_Frame_Shift_Del_p.P613fs|TAF1C_uc010vnx.2_Frame_Shift_Del_p.P681fs|TAF1C_uc010vny.2_Frame_Shift_Del_p.P298fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	707					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	p.P707fs*7(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCGGGTGCAGGGGGTGGCT	0.706													-	84213037	G	-	84213037	7	5	279	1	0	1	0	1	0	0	0	0	15518	1000	35	0	493	0	TAF1C	16	84213037	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	9693273	84213037	6141716	809	143802											
TAF1C	9013	broad.mit.edu	37	chr16	84215812	84215812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaagaaaggatacgcagCctgtcctgggcgcctccagc	12	14	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:84215812C>T	uc002fhn.2	-	7	945	c.717G>A	c.(715-717)AGG>AGA	p.R239R	TAF1C_uc002fhm.2_Silent_p.R172R|TAF1C_uc010vnx.1_Silent_p.R239R|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_5'UTR|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.R239R	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	239					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			ovary(1)	1						GGATACGCAGCCTGTCCTGGG	0.637													T	84215812	C	T	84215812	2	4	279	1	0	0	0	0	0	0	0	1	15518	738	26	2		2	TAF1C	16	84215812	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2775	84215812	6138941	810	143803											
KCNG4	93107	broad.mit.edu	37	chr16	84256129	84256129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtccccgtagcccacCgttgtcatggagatgatggc	11	13	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:84256129C>T	uc010voc.1	-	3	1375	c.1254G>A	c.(1252-1254)ACG>ACA	p.T418T		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	418	Selectivity filter (By similarity).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CGTAGCCCACCGTTGTCATGG	0.642													T	84256129	C	T	84256129	2	4	279	1	0	0	0	0	0	0	0	1	8030	639	23	1		1	KCNG4	16	84256129	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	40317	84256129	6098624	811	143804											
KIAA0182	23199	broad.mit.edu	37	chr16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C													ggccacagcgtgcccagcacINScccccccgtggtgaccatcg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688													C	85682291	-	C	85682290	7	5	279	1	0	1	1	0	0	0	0	0	8159	507	18	0	369	0	KIAA0182	16	85682290	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1426161	85682290	4672463	812	143805											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445211	87445211	+	Frame_Shift_Del	DEL	T	T	-													aacaagataggttcccgctcTttttgtgactggaaccattg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:87445211delT	uc002fjz.1	-	12	2732	c.2705delA	c.(2704-2706)AAGfs	p.K902fs	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Frame_Shift_Del_p.K678fs	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	902					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GTTCCCGCTCTTTTTGTGACT	0.592													-	87445211	T	-	87445211	7	5	279	1	0	1	0	1	0	0	0	0	17580	1609	56	0	152	0	ZCCHC14	16	87445211	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	1762921	87445211	2909542	813	143806											
TUBB3	10381	broad.mit.edu	37	chr16	90001915	90001915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacaacgtgaaggtggcCgtgtgtgacatcccgccccg	12	15	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr16:90001915C>T	uc002fph.1	+	4	1121	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	TUBB3_uc002fpf.2_Silent_p.A699A|TUBB3_uc010ciz.1_Silent_p.A280A|TUBB3_uc002fpg.1_Silent_p.A206A|TUBB3_uc002fpi.1_Silent_p.A280A|TUBB3_uc002fpj.1_Silent_p.A280A|TUBB3_uc010cjb.1_Silent_p.A206A|TUBB3_uc002fpk.1_Silent_p.A206A	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	352					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		TGAAGGTGGCCGTGTGTGACA	0.597													T	90001915	C	T	90001915	2	4	279	1	0	0	0	0	0	0	0	1	16754	639	23	1		1	TUBB3	16	90001915	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2556704	90001915	352838	814	143807											
SMG6	23293	broad.mit.edu	37	chr17	2203754	2203754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggttgttcagttccttgCagacatctttaacgggctgt	10	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:2203754C>T	uc002fub.1	-	2	348	c.293G>A	c.(292-294)TGC>TAC	p.C98Y	SMG6_uc002fud.1_Missense_Mutation_p.C67Y	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	98					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			central_nervous_system(2)|lung(1)|kidney(1)	4						CAGTTCCTTGCAGACATCTTT	0.448													T	2203754	C	T	2203754	3	4	279	1	0	0	0	0	1	0	0	0	14797	710	25	2	4038	2	SMG6	17	2203754	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08		2203754	78991456	815	143808											
KIAA0664	23277	broad.mit.edu	37	chr17	2598515	2598515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcggacgggtggcacctgTaagtacgtcttgaagatgtg	16	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:2598515T>C	uc002fuy.1	-	15	2573	c.2487A>G	c.(2485-2487)TTA>TTG	p.L829L	KIAA0664_uc002fux.1_Silent_p.L762L|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	829							binding			breast(2)	2						GTGGCACCTGTAAGTACGTCT	0.627													C	2598515	T	C	2598515	2	2	279	1	0	0	0	0	0	0	0	1	8189	1635	57	3		3	KIAA0664	17	2598515	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	394761	2598515	78596695	816	143809											
TRPV3	162514	broad.mit.edu	37	chr17	3431416	3431416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccaaggggtgcgggAtggcctgcagggaaagaaga	19	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:3431416A>G	uc002fvt.1	-	11	1728	c.1406T>C	c.(1405-1407)ATC>ACC	p.I469T	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.I453T|TRPV3_uc010vri.1_Missense_Mutation_p.I424T|TRPV3_uc010vrj.1_Missense_Mutation_p.I453T|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.I453T|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.I469T|TRPV3_uc002fvu.2_Missense_Mutation_p.I469T|TRPV3_uc010vrn.1_Missense_Mutation_p.I51T	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	469	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	GGGGTGCGGGATGGCCTGCAG	0.567													G	3431416	A	G	3431416	3	3	279	1	0	0	0	0	1	0	0	0	16594	333	12	3	998	3	TRPV3	17	3431416	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	832901	3431416	77763794	817	143810											
CTNS	1497	broad.mit.edu	37	chr17	3558639	3558639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgatcatgaattggaggCggaaaaggtaaccccctggg	15	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:3558639C>T	uc002fwb.2	+	7	1047	c.454C>T	c.(454-456)CGG>TGG	p.R152W	CTNS_uc002fwa.2_Missense_Mutation_p.R152W|CTNS_uc010ckj.2_Missense_Mutation_p.R152W|CTNS_uc010vrv.1_Missense_Mutation_p.R5W|CTNS_uc010vrw.1_Missense_Mutation_p.R44W	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	152	Cytoplasmic (Potential).|PQ-loop 1.				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GAATTGGAGGCGGAAAAGGTA	0.592													T	3558639	C	T	3558639	3	4	279	1	0	0	0	0	1	0	0	0	4021	759	27	1	472	1	CTNS	17	3558639	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	127223	3558639	77636571	818	143811											
ZZEF1	23140	broad.mit.edu	37	chr17	3974038	3974038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagagcagcaaaggtggCgttcacagcttgatcaatag	11	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:3974038C>T	uc002fxe.2	-	26	4079	c.4015G>A	c.(4015-4017)GCC>ACC	p.A1339T	ZZEF1_uc002fxj.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1339							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAAAGGTGGCGTTCACAGCT	0.398													T	3974038	C	T	3974038	3	4	279	1	0	0	0	0	1	0	0	0	18252	768	27	1	4990	1	ZZEF1	17	3974038	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	415399	3974038	77221172	819	143812											
CAMTA2	23125	broad.mit.edu	37	chr17	4885435	4885435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggacgatggaagagtgAacgtagcagccatagagaca	16	6	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:4885435A>G	uc002gah.1	-	6	468	c.360T>C	c.(358-360)GTT>GTC	p.V120V	CAMTA2_uc010cku.1_Silent_p.V143V|CAMTA2_uc002gag.1_Intron|CAMTA2_uc002gai.1_Silent_p.V122V|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.1_5'UTR	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	120	CG-1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						TGGAAGAGTGAACGTAGCAGC	0.592													G	4885435	A	G	4885435	2	3	279	1	0	0	0	0	0	0	0	1	2614	233	9	3		3	CAMTA2	17	4885435	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	911397	4885435	76309775	820	143813											
NUP88	4927	broad.mit.edu	37	chr17	5312106	5312106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccattttcatataagatGtacagtgggtatgccactac	7	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:5312106G>A	uc002gbo.1	-	5	830	c.804C>T	c.(802-804)TAC>TAT	p.Y268Y	NUP88_uc010vsx.1_Silent_p.Y268Y|NUP88_uc010cle.1_Silent_p.Y267Y|NUP88_uc010vsy.1_Silent_p.Y268Y	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	268					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CATATAAGATGTACAGTGGGT	0.443													A	5312106	G	A	5312106	2	1	279	1	0	0	0	0	0	0	0	1	10771	1372	48	4		4	NUP88	17	5312106	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	426671	5312106	75883104	821	143814											
ACADVL	37	broad.mit.edu	37	chr17	7127562	7127562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcaaacagctgaggcGgtaggcttagggccagagcc	17	10	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7127562G>A	uc002gev.2	+	15	1683	c.1532G>A	c.(1531-1533)CGG>CAG	p.R511Q	ACADVL_uc010vtp.1_Missense_Mutation_p.R521Q|ACADVL_uc002gew.2_Missense_Mutation_p.R489Q|ACADVL_uc002gex.2_Missense_Mutation_p.R435Q|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank	NM_000018	NP_000009	P49748	ACADV_HUMAN	acyl-Coenzyme A dehydrogenase, very long chain	511	Membrane-anchoring (Probable).				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			ovary(3)	3						CAGCTGAGGCGGTAGGCTTAG	0.602													A	7127562	G	A	7127562	3	1	279	1	0	0	0	0	1	0	0	0	116	1130	39	1	1590	1	ACADVL	17	7127562	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1815456	7127562	74067648	822	143815											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-													cgcggacgcgggtgccgggcGggggtgtggaatcaacccac							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7578475delG	uc002gim.2	-	5	649	c.455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGTGCCGGGCGGGGGTGTGGA	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			-	7578475	G	-	7578475	7	5	279	1	0	1	0	1	0	0	0	0	16378	1116	39	0	843	0	TP53	17	7578475	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	450913	7578475	73616735	823	143816											
TP53	7157	broad.mit.edu	37	chr17	7579471	7579471	+	Frame_Shift_Del	DEL	G	G	-													gctgctggtgcaggggccacGgggggagcagcctctggcat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7579470_7579470CG>C	uc002gim.2	-	3	411	c.217_217CG>G	c.(217-219)gtgfs	p.V73fs	TP53_uc002gig.1_Frame_Shift_Del_p.V73fs|TP53_uc002gih.3_Frame_Shift_Del_p.V73fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.V73fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V73fs|TP53_uc002gij.2_Frame_Shift_Del_p.V73fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Del_p.V34fs|TP53_uc010cnk.1_Frame_Shift_Del_p.V88fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(16)|p.0?(8)|p.R72fs*51(7)|p.V73L(6)|p.V73M(4)|p.R72P(3)|p.G59fs*23(3)|p.V73fs*9(2)|p.R72C(2)|p.R72H(2)|p.D57_A76del20(2)|p.V73fs*50(2)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.V73fs*75(1)|p.E68_A78del(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.V73E(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)		GCAGGGGCCACGGGGGGAGCA	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)			-	7579471	G	-	7579471	7	5	279	1	0	1	0	1	0	0	0	0	16378	1103	39	0	1086	0	TP53	17	7579471	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	996	7579471	73615739	824	143817											
ALOX12B	242	broad.mit.edu	37	chr17	7979592	7979592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcattggggaggtagaggCtgtcataggtgagctccgac	16	7	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:7979592C>T	uc002gjy.1	-	11	1694	c.1433G>A	c.(1432-1434)AGC>AAC	p.S478N		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	478	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						GAGGTAGAGGCTGTCATAGGT	0.597										Multiple Myeloma(8;0.094)			T	7979592	C	T	7979592	3	4	279	1	0	0	0	0	1	0	0	0	537	797	28	2	692	2	ALOX12B	17	7979592	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	400121	7979592	73215618	825	143818											
C17orf59	54785	broad.mit.edu	37	chr17	8093038	8093038	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcgtcgttgtcttcctcctCctgctgctcaacatccatcc	5	18	2	0	rs144247363	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:8093038C>G	uc010vut.1	-	1	527	c.421G>C	c.(421-423)GAG>CAG	p.E141Q		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	141											0						TCTTCCTCCTCCTGCTGCTCA	0.716													G	8093038	C	G	8093038	3	3	279	1	0	0	0	0	1	0	0	0	1867	864	30	5	656	5	C17orf59	17	8093038	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	113446	8093038	73102172	826	143819											
MYH3	4621	broad.mit.edu	37	chr17	10538325	10538325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggaatcttgaaggcgCtgagcaagttttttccttaa	9	9	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:10538325C>T	uc002gmq.1	-	30	4265	c.4188G>A	c.(4186-4188)CAG>CAA	p.Q1396Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1396	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CTTGAAGGCGCTGAGCAAGTT	0.433													T	10538325	C	T	10538325	2	4	279	1	0	0	0	0	0	0	0	1	10036	796	28	2		2	MYH3	17	10538325	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2445287	10538325	70656885	827	143820											
MYH3	4621	broad.mit.edu	37	chr17	10541627	10541627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtggaggtgacgcctccCgcctcctccagccgctcgct	12	18	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:10541627C>T	uc002gmq.1	-	26	3539	c.3462G>A	c.(3460-3462)GCG>GCA	p.A1154A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1154	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TGACGCCTCCCGCCTCCTCCA	0.652													T	10541627	C	T	10541627	2	4	279	1	0	0	0	0	0	0	0	1	10036	639	23	1		1	MYH3	17	10541627	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3302	10541627	70653583	828	143821											
ELAC2	60528	broad.mit.edu	37	chr17	12897751	12897751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgctacctgtgtgtcTtttccactgcttcctcttcc	6	15	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:12897751T>G	uc002gnz.3	-	22	2194	c.2099A>C	c.(2098-2100)AAG>ACG	p.K700T	ELAC2_uc002gnu.3_Missense_Mutation_p.K97T|ELAC2_uc002gnv.3_Missense_Mutation_p.K328T|ELAC2_uc002gnw.3_Missense_Mutation_p.K356T|ELAC2_uc002gnx.3_Missense_Mutation_p.K460T|ELAC2_uc010vvo.1_Missense_Mutation_p.K498T|ELAC2_uc010vvp.1_Missense_Mutation_p.K681T|ELAC2_uc010vvq.1_Missense_Mutation_p.K699T|ELAC2_uc010vvr.1_Missense_Mutation_p.K660T	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	700					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						CCTGTGTGTCTTTTCCACTGC	0.557									Hereditary_Prostate_Cancer				G	12897751	T	G	12897751	3	3	279	1	0	0	0	0	1	0	0	0	5047	1609	56	5	393	5	ELAC2	17	12897751	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2356124	12897751	68297459	829	143822											
TEKT3	64518	broad.mit.edu	37	chr17	15217493	15217493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcgtcgatccggtaagcCgtctgtttgtcactcaggtc	11	11	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:15217493C>T	uc002gon.2	-	6	976	c.789G>A	c.(787-789)ACG>ACA	p.T263T		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	263					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCCGGTAAGCCGTCTGTTTGT	0.557													T	15217493	C	T	15217493	2	4	279	1	0	0	0	0	0	0	0	1	15751	639	23	1		1	TEKT3	17	15217493	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2319742	15217493	65977717	830	143823											
ZNF624	57547	broad.mit.edu	37	chr17	16550695	16550695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatcttcatctggctggGtaacttcagggctctgatgg	13	8	5	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:16550695G>A	uc010cpi.1	-	3	184	c.101C>T	c.(100-102)ACC>ATC	p.T34I		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTGGCTGGGTAACTTCAGG	0.284													A	16550695	G	A	16550695	3	1	279	1	0	0	0	0	1	0	0	0	18045	1261	44	4	2512	4	ZNF624	17	16550695	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1333202	16550695	64644515	831	143824											
NT5M	56953	broad.mit.edu	37	chr17	17209922	17209922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagcctctgccaggggcCgtggaagctgtcaaggagat	15	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:17209922C>T	uc002grf.2	+	2	518	c.333C>T	c.(331-333)GCC>GCT	p.A111A	NT5M_uc002gre.2_Silent_p.A111A|NT5M_uc002grg.2_Silent_p.A111A	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial precursor	111					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding				0						TGCCAGGGGCCGTGGAAGCTG	0.493													T	17209922	C	T	17209922	2	4	279	1	0	0	0	0	0	0	0	1	10694	639	23	1		1	NT5M	17	17209922	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	659227	17209922	63985288	832	143825											
MYO15A	51168	broad.mit.edu	37	chr17	18023025	18023025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctttgatccggggtacaCctacggctacggctacgacg	11	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18023025C>T	uc010vxh.1	+	2	1249	c.911C>T	c.(910-912)ACC>ATC	p.T304I		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	304	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCGGGGTACACCTACGGCTAC	0.627													T	18023025	C	T	18023025	3	4	279	1	0	0	0	0	1	0	0	0	10063	507	18	4	913	4	MYO15A	17	18023025	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	813103	18023025	63172185	833	143826											
MYO15A	51168	broad.mit.edu	37	chr17	18045519	18045519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggcgattccgctctctgCgccacaagatcatcctgctg	10	15	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18045519C>T	uc010vxh.1	+	23	6114	c.5776C>T	c.(5776-5778)CGC>TGC	p.R1926C		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1926	Neck or regulatory domain.|IQ 2.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCGCTCTCTGCGCCACAAGAT	0.597													T	18045519	C	T	18045519	3	4	279	1	0	0	0	0	1	0	0	0	10063	768	27	1	5862	1	MYO15A	17	18045519	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	22494	18045519	63149691	834	143827											
SMCR8	140775	broad.mit.edu	37	chr17	18219551	18219551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggcccgtggcttcGtgaggccgttttgcatggct	15	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18219551G>A	uc002gsy.3	+	1	958	c.448G>A	c.(448-450)GTG>ATG	p.V150M		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	150										central_nervous_system(1)	1						CCGTGGCTTCGTGAGGCCGTT	0.532													A	18219551	G	A	18219551	3	1	279	1	0	0	0	0	1	0	0	0	14792	1145	40	1	450	1	SMCR8	17	18219551	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	174032	18219551	62975659	835	143828											
SMCR8	140775	broad.mit.edu	37	chr17	18225952	18225952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctcccctgccggtgcCggtaccctccatgccctgag	12	18	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:18225952C>T	uc002gsy.3	+	2	2892	c.2382C>T	c.(2380-2382)GCC>GCT	p.A794A		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	794										central_nervous_system(1)	1						CTGCCGGTGCCGGTACCCTCC	0.637													T	18225952	C	T	18225952	2	4	279	1	0	0	0	0	0	0	0	1	14792	639	23	1		1	SMCR8	17	18225952	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6401	18225952	62969258	836	143829											
TNFAIP1	7126	broad.mit.edu	37	chr17	26671481	26671481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacaactccttgttggaggCcacaagccgtagccgcagcc	11	15	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:26671481C>T	uc002hax.1	+	7	825	c.806C>T	c.(805-807)GCC>GTC	p.A269V	TNFAIP1_uc002hay.2_Missense_Mutation_p.A269V|TNFAIP1_uc010waf.1_Missense_Mutation_p.A165V	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	269					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				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTGTTGGAGGCCACAAGCCGT	0.592													T	26671481	C	T	26671481	3	4	279	1	0	0	0	0	1	0	0	0	16269	739	26	2	828	2	TNFAIP1	17	26671481	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8445529	26671481	54523729	837	143830											
NEK8	284086	broad.mit.edu	37	chr17	27064710	27064710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcagagaagtccgtggCccccagcaacacagggagca	14	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:27064710C>T	uc002hcp.2	+	6	845	c.845C>T	c.(844-846)GCC>GTC	p.A282V		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	282						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R282Q(1)		stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AAGTCCGTGGCCCCCAGCAAC	0.597													T	27064710	C	T	27064710	3	4	279	1	0	0	0	0	1	0	0	0	10330	739	26	2	867	2	NEK8	17	27064710	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	393229	27064710	54130500	838	143831											
NEK8	284086	broad.mit.edu	37	chr17	27068189	27068189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccctgtaaggtccaagGccttgagggcatcaagatgg	14	10	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:27068189G>A	uc002hcp.2	+	13	1826	c.1826G>A	c.(1825-1827)GGC>GAC	p.G609D	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	609	RCC1 4.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					AAGGTCCAAGGCCTTGAGGGC	0.582													A	27068189	G	A	27068189	3	1	279	1	0	0	0	0	1	0	0	0	10330	1203	42	2	1876	2	NEK8	17	27068189	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3479	27068189	54127021	839	143832											
MYO18A	399687	broad.mit.edu	37	chr17	27493332	27493332	+	Frame_Shift_Del	DEL	G	G	-													ggtgggggcaggggcaccacGgggggcaggcgcaggtcgac							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:27493332delG	uc002hdt.1	-	2	785	c.627delC	c.(625-627)CCCfs	p.P209fs	MYO18A_uc010csa.1_Frame_Shift_Del_p.P209fs|MYO18A_uc002hdu.1_Frame_Shift_Del_p.P209fs	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	209					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			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)			GGGGCACCACGGGGGGCAGGC	0.662													-	27493332	G	-	27493332	7	5	279	1	0	1	0	1	0	0	0	0	10065	1103	39	0	5701	0	MYO18A	17	27493332	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	425143	27493332	53701878	840	143833											
NF1	4763	broad.mit.edu	37	chr17	29509634	29509634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttatcttgtgtccagaaaTaatccaggatatatccaaag	6	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:29509634T>C	uc002hgg.2	+	8	1172	c.839T>C	c.(838-840)ATA>ACA	p.I280T	NF1_uc002hge.1_Missense_Mutation_p.I280T|NF1_uc002hgf.1_Missense_Mutation_p.I280T|NF1_uc002hgh.2_Missense_Mutation_p.I280T|NF1_uc010csn.1_Missense_Mutation_p.I140T	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	280					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			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		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)		TGTCCAGAAATAATCCAGGAT	0.368			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)			C	29509634	T	C	29509634	3	2	279	1	0	0	0	0	1	0	0	0	10356	1406	49	3	869	3	NF1	17	29509634	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2016302	29509634	51685576	841	143834											
GPR179	440435	broad.mit.edu	37	chr17	36484278	36484278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatcatttggagatttcCtaatggcctcagctcccaaa	7	11	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:36484278C>A	uc002hpz.2	-	11	5195	c.5174G>T	c.(5173-5175)AGG>ATG	p.R1725M		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1725	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGAGATTTCCTAATGGCCTC	0.547													A	36484278	C	A	36484278	3	1	279	1	0	0	0	0	1	0	0	0	6674	681	24	5	1933	5	GPR179	17	36484278	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6974644	36484278	44710932	842	143835											
FBXO47	494188	broad.mit.edu	37	chr17	37107906	37107906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcataagaaattataaacgcGatggcactcaagttcatccc	7	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:37107906G>A	uc002hrc.2	-	6	744	c.544C>T	c.(544-546)CGC>TGC	p.R182C		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	182											0						TTATAAACGCGATGGCACTCA	0.358													A	37107906	G	A	37107906	3	1	279	1	0	0	0	0	1	0	0	0	5756	1058	37	1	838	1	FBXO47	17	37107906	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	623628	37107906	44087304	843	143836											
KRT23	25984	broad.mit.edu	37	chr17	39092737	39092738	+	Frame_Shift_Ins	INS	-	-	C													ggacagggagatgcgggctcINScccccgcaccgccatggacg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39092736_39092737T>TC	uc002hvm.1	-	1	708_709	c.119_120A>GA	c.(118-120)ggafs	p.G40fs	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Frame_Shift_Ins_p.G40fs|KRT23_uc002hvn.1_Frame_Shift_Ins_p.G40fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	40	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)				AGATGCGGGCTCCCCCCGCACC	0.698													C	39092738	-	C	39092737	7	5	279	1	0	1	1	0	0	0	0	0	8460	855	30	0	1181	0	KRT23	17	39092737	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1984831	39092737	42102473	844	143837											
KRTAP9-8	83901	broad.mit.edu	37	chr17	39394461	39394461	+	Frame_Shift_Del	DEL	A	A	-													ctgccgcccaacttgctgtcAaaacacctgctgccagccca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39394461delA	uc002hwh.3	+	1	192	c.158delA	c.(157-159)CAAfs	p.Q53fs	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	53	6.|15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACTTGCTGTCAAAACACCTGC	0.632													-	39394461	A	-	39394461	7	5	279	1	0	1	0	1	0	0	0	0	8576	130	5	0	160	0	KRTAP9-8	17	39394461	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	301724	39394461	41800749	845	143838											
KRT34	3885	broad.mit.edu	37	chr17	39534393	39534393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtggcgcatgggttgcagGggagcctaggaggacaagga	20	6	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39534393G>T	uc002hwm.2	-	7	1241	c.1229C>A	c.(1228-1230)CCC>CAC	p.P410H		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	410	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TGGGTTGCAGGGGAGCCTAGG	0.483													T	39534393	G	T	39534393	3	4	279	1	0	0	0	0	1	0	0	0	8471	1232	43	5	85	5	KRT34	17	39534393	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	139932	39534393	41660817	846	143839											
FKBP10	60681	broad.mit.edu	37	chr17	39969301	39969301	+	Frame_Shift_Del	DEL	C	C	-													ggcaccatgttccccgcgggCccccccagccacagcctcct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:39969300_39969300GC>G	uc002hxv.2	+	0	339	c.14_14GC>G	c.(13-15)ggcfs	p.G5fs	LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	5					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion 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)		TTCCCCGCGGGCCCCCCCAGC	0.746													-	39969301	C	-	39969301	7	5	279	1	0	1	0	1	0	0	0	0	5902	726	26	0	17	0	FKBP10	17	39969301	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	434908	39969301	41225909	847	143840											
ATP6V0A1	535	broad.mit.edu	37	chr17	40642658	40642658	+	Splice_Site	DEL	A	A	-													accgagagataaatccaggtAaaaaaaagcttgttatcttt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:40642657_40642657TA>T	uc002hzs.3	+	11	1362	c.1195_splice	c.e11+2	p.A399_splice	ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	392					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|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)		TAAATCCAGGTAAAAAAAAGC	0.388													-	40642658	A	-	40642658	8	5	279	1	0	1	0	1	0	0	1	0	1168	377	13	0		0	ATP6V0A1	17	40642658	Splice_Site	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	673357	40642658	40552552	848	143841											
CCR10	2826	broad.mit.edu	37	chr17	40832555	40832555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccggctgaaggcctggacAtcggccttgtagcaaagctc	13	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:40832555A>G	uc002iax.3	-	2	109	c.105T>C	c.(103-105)GAT>GAC	p.D35D	CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	35	Extracellular (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGGCCTGGACATCGGCCTTGT	0.637													G	40832555	A	G	40832555	2	3	279	1	0	0	0	0	0	0	0	1	2940	214	8	3		3	CCR10	17	40832555	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	189897	40832555	40362655	849	143842											
WNK4	65266	broad.mit.edu	37	chr17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-													accctgcccttcagccccctGggggggtgccatccagcctg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		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)		TTCAGCCCCCTGGGGGGGTGC	0.632													-	40939870	G	-	40939870	7	5	279	1	0	1	0	1	0	0	0	0	17377	1348	47	0	1846	0	WNK4	17	40939870	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	107315	40939870	40255340	850	143843											
BRCA1	672	broad.mit.edu	37	chr17	41243800	41243800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgttcttagacagacactCggtagcaacggtgctatgcc	11	10	1	2	rs28897686	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:41243800C>T	uc002icq.2	-	10	3980	c.3748G>A	c.(3748-3750)GAG>AAG	p.E1250K	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E1179K|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E1203K|BRCA1_uc002ict.2_Missense_Mutation_p.E1250K|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E1250K|BRCA1_uc002ide.1_Missense_Mutation_p.E1081K|BRCA1_uc010cyy.1_Missense_Mutation_p.E1250K|BRCA1_uc010whs.1_Missense_Mutation_p.E1250K|BRCA1_uc010cyz.2_Missense_Mutation_p.E1203K|BRCA1_uc010cza.2_Missense_Mutation_p.E1224K|BRCA1_uc010wht.1_Missense_Mutation_p.E954K	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1250					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACAGACACTCGGTAGCAACG	0.398			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			T	41243800	C	T	41243800	3	4	279	1	0	0	0	0	1	0	0	0	1498	893	31	1	1969	1	BRCA1	17	41243800	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	303930	41243800	39951410	851	143844											
C1QL1	10882	broad.mit.edu	37	chr17	43045010	43045010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccctcgtgggggttcttgAggccggcgtagaaggccacg	16	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:43045010A>C	uc002ihv.2	-	1	635	c.407T>G	c.(406-408)CTC>CGC	p.L136R		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	136	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				GGGGTTCTTGAGGCCGGCGTA	0.473													C	43045010	A	C	43045010	3	2	279	1	0	0	0	0	1	0	0	0	1958	304	11	5	377	5	C1QL1	17	43045010	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1801210	43045010	38150200	852	143845											
NMT1	4836	broad.mit.edu	37	chr17	43174504	43174504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttttccagggctctccGgccacccggctggctccccc	9	20	2	0	rs150418753		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:43174504G>A	uc002ihz.2	+	6	623	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	NMT1_uc002iia.2_RNA	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	202					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				0		Prostate(33;0.155)				AGGGCTCTCCGGCCACCCGGC	0.602											OREG0024469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43174504	G	A	43174504	3	1	279	1	0	0	0	0	1	0	0	0	10503	1116	39	1	627	1	NMT1	17	43174504	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	129494	43174504	38020706	853	143846											
CRHR1	1394	broad.mit.edu	37	chr17	43907506	43907506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactggaacctcatctccGccttcatcctgcgcaacgcc	6	19	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:43907506G>A	uc010dap.2	+	7	833	c.568G>A	c.(568-570)GCC>ACC	p.A190T	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.A60T|CRHR1_uc002ijm.2_Missense_Mutation_p.A161T|CRHR1_uc002ijn.2_Missense_Mutation_p.A121T|CRHR1_uc010dar.2_Missense_Mutation_p.A161T|CRHR1_uc010dao.2_Missense_Mutation_p.A60T|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	190	Helical; Name=2; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTCATCTCCGCCTTCATCCT	0.627													A	43907506	G	A	43907506	3	1	279	1	0	0	0	0	1	0	0	0	3871	1087	38	1	594	1	CRHR1	17	43907506	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	733002	43907506	37287704	854	143847											
CBX1	10951	broad.mit.edu	37	chr17	46154279	46154279	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttgccctttaccactcGacggtcgagaactttttcca	6	14	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:46154279G>A	uc002ind.3	-	2	569	c.88C>T	c.(88-90)CGA>TGA	p.R30*	CBX1_uc002ine.3_Nonsense_Mutation_p.R30*	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	30	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						TTTACCACTCGACGGTCGAGA	0.473													A	46154279	G	A	46154279	4	1	279	1	0	0	0	0	0	1	0	0	2717	1066	37	1	485	1	CBX1	17	46154279	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2246773	46154279	35040931	855	143848											
SNX11	29916	broad.mit.edu	37	chr17	46196139	46196139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgagaagcgacgacaaGgtctgcagcacttccttgaa	10	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:46196139G>A	uc002inf.1	+	6	658	c.304G>A	c.(304-306)GGT>AGT	p.G102S	SNX11_uc010wlg.1_Missense_Mutation_p.G94S|SNX11_uc010wlh.1_Missense_Mutation_p.G94S|SNX11_uc010wli.1_Missense_Mutation_p.G41S|SNX11_uc010wlj.1_5'UTR|SNX11_uc002ing.1_Missense_Mutation_p.G102S|SNX11_uc002inh.1_Missense_Mutation_p.G102S	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	102	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding				0						GCGACGACAAGGTCTGCAGCA	0.552													A	46196139	G	A	46196139	3	1	279	1	0	0	0	0	1	0	0	0	14882	1000	35	4	318	4	SNX11	17	46196139	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	41860	46196139	34999071	856	143849											
XYLT2	64132	broad.mit.edu	37	chr17	48437479	48437479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcacaggccctgcgctcGaggcctggacagacagggaa	14	13	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:48437479G>A	uc002iqo.2	+	11	2534	c.2425G>A	c.(2425-2427)GAG>AAG	p.E809K	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	809	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CCCTGCGCTCGAGGCCTGGAC	0.662													A	48437479	G	A	48437479	3	1	279	1	0	0	0	0	1	0	0	0	17461	1059	37	1	2467	1	XYLT2	17	48437479	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2241340	48437479	32757731	857	143850											
SPATA20	64847	broad.mit.edu	37	chr17	48629529	48629529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggctggcctgcccctgCgtctgaaggacggtcagtgg	18	11	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:48629529C>T	uc002irf.2	+	13	2038	c.1897C>T	c.(1897-1899)CGT>TGT	p.R633C	SPATA20_uc002irc.2_Missense_Mutation_p.R300C|SPATA20_uc002ire.2_Missense_Mutation_p.R589C|SPATA20_uc002ird.2_Missense_Mutation_p.R649C|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	633					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTGCCCCTGCGTCTGAAGGA	0.657													T	48629529	C	T	48629529	3	4	279	1	0	0	0	0	1	0	0	0	15005	768	27	1	1999	1	SPATA20	17	48629529	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	192050	48629529	32565681	858	143851											
MKS1	54903	broad.mit.edu	37	chr17	56284534	56284534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagctcagccaccgtgCcaagctccacaggtctccac	7	19	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:56284534C>T	uc002ivr.1	-	15	1394	c.1319G>A	c.(1318-1320)GGC>GAC	p.G440D	MKS1_uc010wnq.1_Missense_Mutation_p.G237D|MKS1_uc002ivs.1_Intron	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	440					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						AGCCACCGTGCCAAGCTCCAC	0.572													T	56284534	C	T	56284534	3	4	279	1	0	0	0	0	1	0	0	0	9609	739	26	2	376	2	MKS1	17	56284534	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7655005	56284534	24910676	859	143852											
BZRAP1	9256	broad.mit.edu	37	chr17	56386607	56386607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgacttctcctcctcctcGtcctcctcttcctcttcctc	2	22	3	1	rs148608257	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:56386607G>A	uc002ivx.3	-	22	4897	c.4026C>T	c.(4024-4026)GAC>GAT	p.D1342D	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Silent_p.D1282D|BZRAP1_uc010wnt.1_Silent_p.D1342D	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1342	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cctcctcctcgtcctcctctt	0.473													A	56386607	G	A	56386607	2	1	279	1	0	0	0	0	0	0	0	1	1577	1136	40	1		1	BZRAP1	17	56386607	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	102073	56386607	24808603	860	143853											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	279	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	48554	56435161	24760049	861	143854											
SMARCD2	6603	broad.mit.edu	37	chr17	61911635	61911635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatggcggccctcgtctgCgtgtgcactcccagcagcct	12	15	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:61911635C>T	uc010deb.1	-	8	1292	c.975G>A	c.(973-975)ACG>ACA	p.T325T	SMARCD2_uc010wpt.1_Silent_p.T277T|SMARCD2_uc010dea.1_Silent_p.T250T|SMARCD2_uc010dec.1_Silent_p.T304T	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	325	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						CCCTCGTCTGCGTGTGCACTC	0.567											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	61911635	C	T	61911635	2	4	279	1	0	0	0	0	0	0	0	1	14778	755	27	1		1	SMARCD2	17	61911635	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	5476474	61911635	19283575	862	143855											
GH2	2689	broad.mit.edu	37	chr17	61958199	61958199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgttgctgtccgaggcgCcatacaccaggctgttggcg	14	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:61958199C>T	uc002jco.1	-	4	451	c.389G>A	c.(388-390)GGC>GAC	p.G130D	GH2_uc002jcj.2_Missense_Mutation_p.G130D|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.G130D|GH2_uc002jcm.1_Missense_Mutation_p.G130D|GH2_uc002jcn.1_Missense_Mutation_p.G115D	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	130						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						GTCCGAGGCGCCATACACCAG	0.612													T	61958199	C	T	61958199	3	4	279	1	0	0	0	0	1	0	0	0	6368	739	26	2	609	2	GH2	17	61958199	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	46564	61958199	19237011	863	143856											
CCDC45	90799	broad.mit.edu	37	chr17	62523312	62523312	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgaggaggtagaggaTggaactgaggagacactgtc	17	4	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:62523312T>G	uc002jem.2	+	11	1294	c.1236T>G	c.(1234-1236)GAT>GAG	p.D412E	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.D248E	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	412						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGGTAGAGGATGGAACTGAGG	0.448													G	62523312	T	G	62523312	3	3	279	1	0	0	0	0	1	0	0	0	2816	1461	51	5	1278	5	CCDC45	17	62523312	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	565113	62523312	18671898	864	143857											
SOX9	6662	broad.mit.edu	37	chr17	70120416	70120416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctacatgaaccccgctcAgcgccccatgtacaccccca	5	21	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:70120416A>G	uc002jiw.2	+	3	1790	c.1418A>G	c.(1417-1419)CAG>CGG	p.Q473R		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	473					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				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AACCCCGCTCAGCGCCCCATG	0.637													G	70120416	A	G	70120416	3	3	279	1	0	0	0	0	1	0	0	0	14958	188	7	3	1428	3	SOX9	17	70120416	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	7597104	70120416	11074794	865	143858											
GALR2	8811	broad.mit.edu	37	chr17	74073226	74073226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaaccccatcgtttacgCgctggtctccaagcacttcc	7	17	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74073226C>T	uc002jqm.1	+	2	959	c.878C>T	c.(877-879)GCG>GTG	p.A293V	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	293	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						ATCGTTTACGCGCTGGTCTCC	0.677													T	74073226	C	T	74073226	3	4	279	1	0	0	0	0	1	0	0	0	6228	768	27	1	884	1	GALR2	17	74073226	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3952810	74073226	7121984	866	143859											
QRICH2	84074	broad.mit.edu	37	chr17	74272799	74272799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagccttgtgtccatcCgtcccttgtaaatgtggcca	10	13	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74272799C>T	uc002jrd.1	-	17	4997	c.4817G>A	c.(4816-4818)CGG>CAG	p.R1606Q	QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.R450Q	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1606							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						TGTGTCCATCCGTCCCTTGTA	0.592													T	74272799	C	T	74272799	3	4	279	1	0	0	0	0	1	0	0	0	12880	652	23	1	186	1	QRICH2	17	74272799	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	199573	74272799	6922411	867	143860											
UBE2O	63893	broad.mit.edu	37	chr17	74395743	74395743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctctgccgagtgcagcCtgtcatctctgccttctttt	8	15	4	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74395743C>A	uc002jrm.3	-	9	1480	c.1415G>T	c.(1414-1416)AGG>ATG	p.R472M	UBE2O_uc002jrn.3_Missense_Mutation_p.R472M|UBE2O_uc002jrl.3_Missense_Mutation_p.R75M	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	472							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CGAGTGCAGCCTGTCATCTCT	0.612													A	74395743	C	A	74395743	3	1	279	1	0	0	0	0	1	0	0	0	16865	681	24	5	2503	5	UBE2O	17	74395743	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	122944	74395743	6799467	868	143861											
UBE2O	63893	broad.mit.edu	37	chr17	74396252	74396252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccatagagccctccccCtgggcgcagtttttttctgg	11	13	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:74396252C>T	uc002jrm.3	-	8	1196	c.1131G>A	c.(1129-1131)CAG>CAA	p.Q377Q	UBE2O_uc002jrn.3_Silent_p.Q377Q|UBE2O_uc002jrl.3_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	377							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						AGCCCTCCCCCTGGGCGCAGT	0.562													T	74396252	C	T	74396252	2	4	279	1	0	0	0	0	0	0	0	1	16865	680	24	4		4	UBE2O	17	74396252	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	509	74396252	6798958	869	143862											
SEPT9	10801	broad.mit.edu	37	chr17	75484868	75484868	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaatacctgcaggaggaggTcaacatcaaccgcaagaagc	11	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:75484868T>A	uc002jts.3	+	7	1310	c.1184T>A	c.(1183-1185)GTC>GAC	p.V395D	SEPT9_uc010wtk.1_Missense_Mutation_p.V376D|SEPT9_uc002jtt.3_Missense_Mutation_p.V231D|SEPT9_uc002jtu.3_Missense_Mutation_p.V377D|SEPT9_uc002jtv.2_Missense_Mutation_p.V388D|SEPT9_uc002jtw.2_Missense_Mutation_p.V231D|SEPT9_uc010wtl.1_Missense_Mutation_p.V171D|SEPT9_uc002jty.3_Missense_Mutation_p.V144D|SEPT9_uc010wtm.1_Missense_Mutation_p.V144D|SEPT9_uc010wtn.1_Missense_Mutation_p.V144D|SEPT9_uc010dhd.2_Missense_Mutation_p.V283D	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	395					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAGGAGGAGGTCAACATCAAC	0.602													A	75484868	T	A	75484868	3	1	279	1	0	0	0	0	1	0	0	0	14071	1667	58	5	1684	5	SEPT9	17	75484868	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1088616	75484868	5710342	870	143863											
CCDC40	55036	broad.mit.edu	37	chr17	78021186	78021186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagacctggaggagttcGtctcgcaggagccaggtgcc	14	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:78021186G>A	uc010dht.2	+	4	688	c.661G>A	c.(661-663)GTC>ATC	p.V221I	CCDC40_uc010wub.1_Missense_Mutation_p.V221I|CCDC40_uc002jxm.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	221					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAGGAGTTCGTCTCGCAGGA	0.657											OREG0031512	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	A	78021186	G	A	78021186	3	1	279	1	0	0	0	0	1	0	0	0	2812	1145	40	1	675	1	CCDC40	17	78021186	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2536318	78021186	3174024	871	143864											
RNF213	57674	broad.mit.edu	37	chr17	78341576	78341576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaactctgacgtgaagaCgcacgggccttttgaggccg	14	10	1	5			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:78341576C>T	uc002jyh.1	+	18	6342	c.6119C>T	c.(6118-6120)ACG>ATG	p.T2040M	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.T422M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACGTGAAGACGCACGGGCCT	0.592													T	78341576	C	T	78341576	3	4	279	1	0	0	0	0	1	0	0	0	13477	536	19	1	12385	1	RNF213	17	78341576	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	320390	78341576	2853634	872	143865											
BAHCC1	57597	broad.mit.edu	37	chr17	79412060	79412060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatgtcatggaccaggcGtcactgtggccccccatgta	13	13	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79412060G>A	uc002kaf.2	+	7	2691	c.2691G>A	c.(2689-2691)GCG>GCA	p.A897A	BAHCC1_uc002kae.2_Silent_p.A96A	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	897	Pro-rich.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			TGGACCAGGCGTCACTGTGGC	0.721													A	79412060	G	A	79412060	2	1	279	1	0	0	0	0	0	0	0	1	1296	1132	40	1		1	BAHCC1	17	79412060	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1070484	79412060	1783150	873	143866											
ARL16	339231	broad.mit.edu	37	chr17	79649138	79649138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctaagagctgcacacaGgatgcagagagctgggtggg	16	8	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79649138G>A	uc002kbf.2	-	4	447	c.348C>T	c.(346-348)TCC>TCT	p.S116S	ARL16_uc002kbe.2_Silent_p.S45S|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	116							GTP binding				0	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTGCACACAGGATGCAGAGA	0.537													A	79649138	G	A	79649138	2	1	279	1	0	0	0	0	0	0	0	1	932	987	35	4		4	ARL16	17	79649138	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	237078	79649138	1546072	874	143867											
PCYT2	5833	broad.mit.edu	37	chr17	79862799	79862799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggcttccttcttctgGtttcgcgcctcatactccaa	6	15	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79862799G>A	uc002kcf.1	-	13	1143	c.1080C>T	c.(1078-1080)AAC>AAT	p.N360N	PCYT2_uc010wva.1_Silent_p.N328N|PCYT2_uc010wvb.1_Silent_p.N328N|PCYT2_uc002kce.1_Silent_p.N282N|PCYT2_uc002kcg.1_Silent_p.N389N|PCYT2_uc002kch.1_Silent_p.N378N|PCYT2_uc002kci.1_Silent_p.N319N|PCYT2_uc010dii.1_Silent_p.N338N|PCYT2_uc010wvc.1_Silent_p.N282N	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	360					phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCTTCTTCTGGTTTCGCGCCT	0.637													A	79862799	G	A	79862799	2	1	279	1	0	0	0	0	0	0	0	1	11612	1252	44	4		4	PCYT2	17	79862799	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	213661	79862799	1332411	875	143868											
NOTUM	147111	broad.mit.edu	37	chr17	79914942	79914942	+	Frame_Shift_Del	DEL	C	C	-													cattcaggagcaccccggtgCcccccgcgctgcaaggaggg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:79914941_79914941GC>G	uc010wvg.2	-	6	977	c.705_705GC>C	c.(703-705)ggcfs	p.G235fs		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	235						extracellular region	hydrolase activity	p.G234G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCACCCCGGTGCCCCCCGCGC	0.697													-	79914942	C	-	79914942	7	5	279	1	0	1	0	1	0	0	0	0	10552	739	26	0	806	0	NOTUM	17	79914942	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	52143	79914942	1280268	876	143869											
FASN	2194	broad.mit.edu	37	chr17	80044378	80044378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccccatccagtccggGcaccaccatcttcagcccct	8	20	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80044378G>A	uc002kdu.2	-	22	3601	c.3484C>T	c.(3484-3486)CCC>TCC	p.P1162S	FASN_uc002kdw.1_Missense_Mutation_p.P378S	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1162					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(1)	1	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)	TCCAGTCCGGGCACCACCATC	0.677													A	80044378	G	A	80044378	3	1	279	1	0	0	0	0	1	0	0	0	5683	1203	42	2	4139	2	FASN	17	80044378	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	129436	80044378	1150832	877	143870											
FASN	2194	broad.mit.edu	37	chr17	80046321	80046321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttggggaagtcctcggcGgccggcacgtcccaggccag	16	15	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80046321G>A	uc002kdu.2	-	16	2655	c.2538C>T	c.(2536-2538)GCC>GCT	p.A846A	FASN_uc002kdw.1_Silent_p.A62A	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	846					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(1)	1	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)	AGTCCTCGGCGGCCGGCACGT	0.657													A	80046321	G	A	80046321	2	1	279	1	0	0	0	0	0	0	0	1	5683	1103	39	1		1	FASN	17	80046321	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1943	80046321	1148889	878	143871											
FN3K	64122	broad.mit.edu	37	chr17	80708494	80708494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcaccgcctaccacCggaagatccccaaggctccg	7	19	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80708494C>T	uc010wvs.1	+	6	854	c.793C>T	c.(793-795)CGG>TGG	p.R265W	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	265					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CGCCTACCACCGGAAGATCCC	0.567													T	80708494	C	T	80708494	3	4	279	1	0	0	0	0	1	0	0	0	5963	643	23	1	815	1	FN3K	17	80708494	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	662173	80708494	486716	879	143872											
TBCD	6904	broad.mit.edu	37	chr17	80721910	80721911	+	Frame_Shift_Ins	INS	-	-	T													gcttcccttgtacatctggcINSttttaaatttctttacatca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80721910_80721911insT	uc002kfz.2	+	3	435_436	c.305_306insT	c.(304-306)GCTfs	p.A102fs	TBCD_uc002kfx.1_Frame_Shift_Ins_p.A85fs|TBCD_uc002kfy.1_Frame_Shift_Ins_p.A102fs	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	102					'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				0	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)			GTACATCTGGCTTTTAAATTTC	0.376													T	80721911	-	T	80721910	7	5	279	1	0	1	1	0	0	0	0	0	15630	797	28	0	315	0	TBCD	17	80721910	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	13416	80721910	473300	880	143873	762	2									
TBCD	6904	broad.mit.edu	37	chr17	80721911	80721912	+	Frame_Shift_Ins	INS	-	-	T													cttcccttgtacatctggctINStttaaatttctttacatcat							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr17:80721910_80721911C>CT	uc002kfy.1	+	2	435_436	c.305_306C>CT	c.(304-306)gctfs	p.A102fs	TBCD_uc002kfx.1_Frame_Shift_Ins_p.A85fs|TBCD_uc002kfz.3_Frame_Shift_Ins_p.A102fs	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	102					'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	GTPase activator activity|beta-tubulin binding|chaperone binding					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)			GTACATCTGGCTTTTAAATTTC	0.376													T	80721912	-	T	80721911	7	5	279	1	0	1	1	0	0	0	0	0	15630	1596	56	0	316	0	TBCD	17	80721911	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	80721911	473299	881	143874	762	2									
LAMA1	284217	broad.mit.edu	37	chr18	7043243	7043243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactttgtgtggtctataatAtccatcaatacaggtttcac	6	8	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:7043243A>G	uc002knm.2	-	8	1232	c.1138T>C	c.(1138-1140)TAT>CAT	p.Y380H	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	380	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCTATAATATCCATCAATA	0.403													G	7043243	A	G	7043243	3	3	279	1	0	0	0	0	1	0	0	0	8605	449	16	3	8313	3	LAMA1	18	7043243	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08		7043243	71034005	882	143875											
PTPRM	5797	broad.mit.edu	37	chr18	8113519	8113519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgaggaagaacgtcctcGaagaactaaaaagacgacag	11	7	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:8113519G>A	uc002knn.3	+	12	2395	c.1892G>A	c.(1891-1893)CGA>CAA	p.R631Q	PTPRM_uc010dkv.2_Missense_Mutation_p.R631Q|PTPRM_uc010wzl.1_Missense_Mutation_p.R418Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	631	Fibronectin type-III 4.|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GAACGTCCTCGAAGAACTAAA	0.388													A	8113519	G	A	8113519	3	1	279	1	0	0	0	0	1	0	0	0	12806	1058	37	1	1938	1	PTPRM	18	8113519	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1070276	8113519	69963729	883	143876											
KIAA0802	23255	broad.mit.edu	37	chr18	8825585	8825585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtgctacacccgtgtcGtctccttcccggagccttag	12	15	1	0	rs148473485		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:8825585G>A	uc002knr.2	+	15	4219	c.4077G>A	c.(4075-4077)TCG>TCA	p.S1359S	KIAA0802_uc002knq.2_Silent_p.S1318S|KIAA0802_uc002kns.2_Silent_p.S699S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1669											0						CACCCGTGTCGTCTCCTTCCC	0.622													A	8825585	G	A	8825585	2	1	279	1	0	0	0	0	0	0	0	1	8194	1132	40	1		1	KIAA0802	18	8825585	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	712066	8825585	69251663	884	143877											
ROCK1	6093	broad.mit.edu	37	chr18	18629104	18629105	+	Frame_Shift_Ins	INS	-	-	A													tgatgtccctttcttcccagINSaaaaaagcagaatcagatct					rs35810558		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:18629104_18629105insA	uc002kte.2	-	4	1303_1304	c.362_363insT	c.(361-363)TTCfs	p.F121fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	121	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			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTTCTTCCCAGAAAAAAGCAGA	0.361													A	18629105	-	A	18629104	7	5	279	1	0	1	1	0	0	0	0	0	13517	933	33	0	3821	0	ROCK1	18	18629104	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	9803519	18629104	59448144	885	143878	763	2									
ROCK1	6093	broad.mit.edu	37	chr18	18629105	18629106	+	Frame_Shift_Ins	INS	-	-	A													gatgtccctttcttcccagaINSaaaaagcagaatcagatctc					rs35810558		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:18629104_18629105G>GA	uc002kte.3	-	3	1303_1304	c.362_363C>TC	c.(361-363)ttcfs	p.F121fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	121	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	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)					TTTCTTCCCAGAAAAAAGCAGA	0.361													A	18629106	-	A	18629105	7	5	279	1	0	1	1	0	0	0	0	0	13517	246	9	0	3822	0	ROCK1	18	18629105	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	18629105	59448143	886	143879	763	2									
SLC14A2	8170	broad.mit.edu	37	chr18	43207048	43207048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatccagaatccctggtggAcaatcactgggggcctgggg	15	10	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:43207048A>G	uc010dnj.2	+	5	778	c.457A>G	c.(457-459)ACA>GCA	p.T153A	SLC14A2_uc002lbb.2_Missense_Mutation_p.T153A|SLC14A2_uc002lbe.2_Missense_Mutation_p.T153A	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	153	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						TCCCTGGTGGACAATCACTGG	0.552													G	43207048	A	G	43207048	3	3	279	1	0	0	0	0	1	0	0	0	14397	275	10	3	467	3	SLC14A2	18	43207048	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	24577943	43207048	34870200	887	143880											
SMAD2	4087	broad.mit.edu	37	chr18	45395727	45395727	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgatgactgtgaagaTcaggccagcgccataatcgg	12	9	2	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:45395727T>A	uc002lcy.2	-	4	655	c.407A>T	c.(406-408)GAT>GTT	p.D136V	SMAD2_uc002lcz.2_Missense_Mutation_p.D136V|SMAD2_uc010xdc.1_Missense_Mutation_p.D106V|SMAD2_uc010xdd.1_Missense_Mutation_p.D106V	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	136	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			large_intestine(3)|lung(1)|central_nervous_system(1)	5						ACTGTGAAGATCAGGCCAGCG	0.423													A	45395727	T	A	45395727	3	1	279	1	0	0	0	0	1	0	0	0	14758	1435	50	5	1028	5	SMAD2	18	45395727	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2188679	45395727	32681521	888	143881											
NEDD4L	23327	broad.mit.edu	37	chr18	56002750	56002750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgttcatcaactgtcaCgggtggtgaggaaccaacgg	14	10	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:56002750C>T	uc002lgy.2	+	13	1380	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M	NEDD4L_uc002lgz.2_Intron|NEDD4L_uc002lgx.2_Intron|NEDD4L_uc010xee.1_Missense_Mutation_p.T248M|NEDD4L_uc002lhc.2_Missense_Mutation_p.T361M|NEDD4L_uc002lhd.2_Missense_Mutation_p.T248M|NEDD4L_uc002lhb.2_Intron|NEDD4L_uc002lhe.2_Intron|NEDD4L_uc002lhf.2_Intron|NEDD4L_uc002lhg.2_Missense_Mutation_p.T248M|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	369					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			lung(4)	4						TCAACTGTCACGGGTGGTGAG	0.478													T	56002750	C	T	56002750	3	4	279	1	0	0	0	0	1	0	0	0	10311	536	19	1	1184	1	NEDD4L	18	56002750	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	10607023	56002750	22074498	889	143882											
LMAN1	3998	broad.mit.edu	37	chr18	57021815	57021816	+	Splice_Site	INS	-	-	A													atagcaggattatttttctaINSaaaaaaaggaaaacatttta							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:57021814_57021815T>TA	uc002lhz.3	-	4	510	c.478_splice	c.e4-1	p.K160_splice	LMAN1_uc010xek.1_Splice_Site_p.K160_splice	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	160	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	ATTATTTTTCTAAAAAAAAGGA	0.292													A	57021816	-	A	57021815	8	5	279	1	0	1	1	0	0	0	1	0	8836	377	13	0		0	LMAN1	18	57021815	Splice_Site	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1019065	57021815	21055433	890	143883											
SERPINB8	5271	broad.mit.edu	37	chr18	61654234	61654234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttatgacttggagcctttcCttcgaagattaggaatgatc	10	7	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:61654234C>A	uc002ljv.2	+	7	1016	c.847C>A	c.(847-849)CTT>ATT	p.L283I	SERPINB8_uc002lju.2_Missense_Mutation_p.L283I|SERPINB8_uc010xex.1_Missense_Mutation_p.L101I	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	283					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				GGAGCCTTTCCTTCGAAGATT	0.423													A	61654234	C	A	61654234	3	1	279	1	0	0	0	0	1	0	0	0	14107	681	24	5	882	5	SERPINB8	18	61654234	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4632419	61654234	16423014	891	143884											
TMX3	54495	broad.mit.edu	37	chr18	66367694	66367695	+	Frame_Shift_Del	DEL	TA	TA	-													atcttttgttcgtggtcctcTataattatatgccaagtccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:66367693_66367694CTA>C	uc002lkf.3	-	5	475_476	c.340_341TAG>G	c.(340-342)agafs	p.R114fs	TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.4_Frame_Shift_Del_p.R114fs	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	114	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						TCGTGGTCCTCTATAATTATAT	0.262													-	66367695	TA	-	66367694	7	5	279	1	0	1	0	1	0	0	0	0	16265	1530	53	0	1068	0	TMX3	18	66367694	Frame_Shift_Del	DEL	TA	TCGA-HU-A4H3-01A-21D-A25D-08	4713460	66367694	11709554	892	143885											
CBLN2	147381	broad.mit.edu	37	chr18	70209335	70209335	+	Frame_Shift_Del	DEL	C	C	-													gccgcccggctcgcgcagcgCcccccggcgcccgggcatca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:70209335delC	uc002lku.2	-	2	296	c.61delG	c.(61-63)GCGfs	p.A21fs	CBLN2_uc002lkv.2_Frame_Shift_Del_p.A21fs	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	21						integral to membrane					0		Esophageal squamous(42;0.131)				tcgcgcagcgccccccggcgc	0.502													-	70209335	C	-	70209335	7	5	279	1	0	1	0	1	0	0	0	0	2705	739	26	0	625	0	CBLN2	18	70209335	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	3841641	70209335	7867913	893	143886											
ZNF516	9658	broad.mit.edu	37	chr18	74153390	74153390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactgtccctctcgcggcGcgcgcggcgatgcacgcgtg	15	16	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:74153390G>A	uc010dqx.1	-	2	1856	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTCTCGCGGCGCGCGCGGCGA	0.697													A	74153390	G	A	74153390	3	1	279	1	0	0	0	0	1	0	0	0	17957	1087	38	1	1891	1	ZNF516	18	74153390	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3944055	74153390	3923858	894	143887											
ZNF236	7776	broad.mit.edu	37	chr18	74606996	74606996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgaggagaacggcgtgcGctggcatgtgtgtccctact	15	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr18:74606996G>A	uc002lmi.2	+	10	1637	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	480					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		AACGGCGTGCGCTGGCATGTG	0.662													A	74606996	G	A	74606996	3	1	279	1	0	0	0	0	1	0	0	0	17786	1087	38	1	1477	1	ZNF236	18	74606996	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	453606	74606996	3470252	895	143888											
MED16	10025	broad.mit.edu	37	chr19	873537	873537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtgtgttcatgtccAgcacaaattcctccgtcttg	8	13	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:873537A>C	uc002lqd.1	-	11	1968	c.1817T>G	c.(1816-1818)CTG>CGG	p.L606R	MED16_uc010drw.1_Missense_Mutation_p.L431R|MED16_uc002lqe.2_Missense_Mutation_p.L595R|MED16_uc002lqf.2_Missense_Mutation_p.L595R|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.L526R|MED16_uc010xfx.1_Missense_Mutation_p.L451R|MED16_uc010xfy.1_Missense_Mutation_p.L183R|MED16_uc010xfz.1_RNA	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	606					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				0		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)		GTTCATGTCCAGCACAAATTC	0.582													C	873537	A	C	873537	3	2	279	1	0	0	0	0	1	0	0	0	9434	188	7	5	840	5	MED16	19	873537	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08		873537	58255446	896	143889											
MBD3	53615	broad.mit.edu	37	chr19	1581156	1581156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgttgagccatacgccGgggttcttctccacggcggc	15	12	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:1581156G>A	uc002ltl.1	-	5	634	c.612C>T	c.(610-612)CCC>CCT	p.P204P	MBD3_uc002ltj.2_Silent_p.P204P|MBD3_uc002ltk.2_Silent_p.P172P	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	204					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)		GCCATACGCCGGGGTTCTTCT	0.657													A	1581156	G	A	1581156	2	1	279	1	0	0	0	0	0	0	0	1	9344	1103	39	1		1	MBD3	19	1581156	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	707619	1581156	57547827	897	143890											
TCF3	6929	broad.mit.edu	37	chr19	1627405	1627405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccgaaggaggcataggCgccccgctcaccgctcttgc	11	17	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:1627405C>T	uc002ltr.2	-	6	386	c.319G>A	c.(319-321)GCC>ACC	p.A107T	TCF3_uc002ltt.3_Missense_Mutation_p.A107T|TCF3_uc002ltq.2_Missense_Mutation_p.A56T|TCF3_uc002lts.1_Missense_Mutation_p.A23T	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	107					B cell lineage commitment|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|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|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		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)		GAGGCATAGGCGCCCCGCTCA	0.622			T	PBX1|HLF|TFPT	pre B-ALL								T	1627405	C	T	1627405	3	4	279	1	0	0	0	0	1	0	0	0	15691	768	27	1	1932	1	TCF3	19	1627405	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	46249	1627405	57501578	898	143891											
C19orf28	126321	broad.mit.edu	37	chr19	3547998	3547998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatagcagtgagaacacggCgccgacacccaccaccagca	10	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:3547998C>T	uc002lxz.2	-	4	855	c.685G>A	c.(685-687)GCC>ACC	p.A229T	C19orf28_uc002lxw.2_Missense_Mutation_p.A229T|C19orf28_uc002lxx.2_Missense_Mutation_p.A229T|C19orf28_uc002lxy.2_Missense_Mutation_p.A220T	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	229	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAACACGGCGCCGACACCC	0.711													T	3547998	C	T	3547998	3	4	279	1	0	0	0	0	1	0	0	0	1917	768	27	1	992	1	C19orf28	19	3547998	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1920593	3547998	55580985	899	143892											
UBXN6	80700	broad.mit.edu	37	chr19	4446878	4446879	+	Frame_Shift_Ins	INS	-	-	A													ttctggaacccaatggcctcINSaaaaaactcgtgggtccctt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:4446878_4446879insA	uc002man.1	-	7	750_751	c.654_655insT	c.(652-657)TTTGAGfs	p.F218fs	UBXN6_uc010dty.1_Frame_Shift_Ins_p.F122fs|UBXN6_uc002mam.1_Frame_Shift_Ins_p.F165fs	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	218_219	PUB.					microtubule organizing center|nucleus	protein binding				0						CCAATGGCCTCAAAAAACTCGT	0.644													A	4446879	-	A	4446878	7	5	279	1	0	1	1	0	0	0	0	0	16914	835	29	0	690	0	UBXN6	19	4446878	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	898880	4446878	54682105	900	143893	764	2									
UBXN6	80700	broad.mit.edu	37	chr19	4446879	4446880	+	Frame_Shift_Ins	INS	-	-	A													tctggaacccaatggcctcaINSaaaaactcgtgggtcccttc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:4446878_4446879C>CA	uc002man.2	-	6	751_752	c.654_655G>TG	c.(652-657)tttgagfs	p.F218fs	UBXN6_uc002mam.2_Frame_Shift_Ins_p.F165fs	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	218	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCAATGGCCTCAAAAAACTCGT	0.644													A	4446880	-	A	4446879	7	5	279	1	0	1	1	0	0	0	0	0	16914	127	5	0	691	0	UBXN6	19	4446879	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	4446879	54682104	901	143894	764	2									
PLIN4	729359	broad.mit.edu	37	chr19	4512048	4512048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccccttggccacgttcaCggcactggtgaccccactgt	10	17	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:4512048C>T	uc002mar.1	-	3	1882	c.1882G>A	c.(1882-1884)GTG>ATG	p.V628M	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	628	27 X 33 AA approximate tandem repeat.|17.					lipid particle|plasma membrane					0						GCCACGTTCACGGCACTGGTG	0.552													T	4512048	C	T	4512048	3	4	279	1	0	0	0	0	1	0	0	0	12092	536	19	1	2207	1	PLIN4	19	4512048	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	65169	4512048	54616935	902	143895											
SAFB2	9667	broad.mit.edu	37	chr19	5590298	5590298	+	Frame_Shift_Del	DEL	G	G	-													cacccactaacctggggggaGggggcagcccccggccttca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:5590298delG	uc002mcd.2	-	18	2728	c.2516delC	c.(2515-2517)CCTfs	p.P839fs		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	839	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCTGGGGGGAGGGGGCAGCCC	0.687													-	5590298	G	-	5590298	7	5	279	1	0	1	0	1	0	0	0	0	13807	1000	35	0	361	0	SAFB2	19	5590298	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1078250	5590298	53538685	903	143896											
LONP1	9361	broad.mit.edu	37	chr19	5705847	5705847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgtccacaacatccaTgacgtgcttggggaccacga	9	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:5705847T>C	uc002mcx.2	-	8	1336	c.1303A>G	c.(1303-1305)ATG>GTG	p.M435V	LONP1_uc002mcy.2_Missense_Mutation_p.M371V|LONP1_uc010duh.2_Missense_Mutation_p.M176V|LONP1_uc010dui.2_Missense_Mutation_p.M419V|LONP1_uc002mcz.2_Missense_Mutation_p.M239V	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	435					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				0						ACAACATCCATGACGTGCTTG	0.622													C	5705847	T	C	5705847	3	2	279	1	0	0	0	0	1	0	0	0	8892	1464	51	3	1620	3	LONP1	19	5705847	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	115549	5705847	53423136	904	143897											
RFX2	5990	broad.mit.edu	37	chr19	6042053	6042053	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcgggagaagcacgcAcatggctccattggtgtaga	15	11	0	2	rs111454935		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6042053A>G	uc002meb.2	-	4	529	c.260_splice	c.e4+1	p.I87_splice	RFX2_uc002mec.2_Splice_Site_p.I87_splice|RFX2_uc010xiy.1_Splice_Site_p.I42_splice	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						AGAAGCACGCACATGGCTCCA	0.602													G	6042053	A	G	6042053	5	3	279	1	0	0	0	0	0	0	1	0	13263	173	6	3	1969	3	RFX2	19	6042053	Splice_Site	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	336206	6042053	53086930	905	143898											
TRIP10	9322	broad.mit.edu	37	chr19	6746467	6746467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctacccaccttgcagacagTggtgaccgaggattttagcc	10	12	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6746467T>C	uc002mfs.2	+	11	1223	c.1157T>C	c.(1156-1158)GTG>GCG	p.V386A	TRIP10_uc010dux.1_Missense_Mutation_p.V330A|TRIP10_uc002mfr.2_Missense_Mutation_p.V330A|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.V149A	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	386	Interaction with CDC42.|Interaction with PDE6G (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			ovary(1)	1						TTGCAGACAGTGGTGACCGAG	0.542													C	6746467	T	C	6746467	3	2	279	1	0	0	0	0	1	0	0	0	16551	1696	59	3	1027	3	TRIP10	19	6746467	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	704414	6746467	52382516	906	143899											
TRIP10	9322	broad.mit.edu	37	chr19	6750379	6750380	+	Frame_Shift_Ins	INS	-	-	C													cggcacgcccggcctcccgaINScccccccgctagcgccccgc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6750379_6750380insC	uc002mfs.2	+	13	1538_1539	c.1472_1473insC	c.(1471-1473)GACfs	p.D491fs	TRIP10_uc010dux.1_Frame_Shift_Ins_p.D435fs|TRIP10_uc002mfr.2_Frame_Shift_Ins_p.D435fs|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Frame_Shift_Ins_p.D254fs	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	491	Interaction with CDC42.|Interaction with PDE6G (By similarity).|Interaction with DNM2 and WASL (By similarity).|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729).	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			ovary(1)	1						CGGCCTCCCGACCCCCCCGCTA	0.658													C	6750380	-	C	6750379	7	5	279	1	0	1	1	0	0	0	0	0	16551	275	10	0	1350	0	TRIP10	19	6750379	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	3912	6750379	52378604	907	143900	765	2									
TRIP10	9322	broad.mit.edu	37	chr19	6750380	6750381	+	Frame_Shift_Ins	INS	-	-	C													ggcacgcccggcctcccgacINSccccccgctagcgccccgcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:6750379_6750380A>AC	uc002mfs.3	+	12	1538_1539	c.1472_1473A>AC	c.(1471-1473)gacfs	p.D491fs	TRIP10_uc010dux.2_Frame_Shift_Ins_p.D435fs|TRIP10_uc002mfr.3_Frame_Shift_Ins_p.D435fs|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	491	Interaction with CDC42.|Interaction with DNM2 and WASL (By similarity).|Interaction with PDE6G (By similarity).|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729).	actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CGGCCTCCCGACCCCCCCGCTA	0.658													C	6750381	-	C	6750380	7	5	279	1	0	1	1	0	0	0	0	0	16551	506	18	0	1351	0	TRIP10	19	6750380	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1	6750380	52378603	908	143901	765	2									
TIMM44	10469	broad.mit.edu	37	chr19	7999057	7999057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccgactgcttggccgtctTggctgcttcctccacgccct	11	17	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:7999057T>C	uc002miz.2	-	5	462	c.460A>G	c.(460-462)AAG>GAG	p.K154E	TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	NM_006351	NP_006342	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44	154					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1						TTGGCCGTCTTGGCTGCTTCC	0.612													C	7999057	T	C	7999057	3	2	279	1	0	0	0	0	1	0	0	0	15909	1821	63	3	934	3	TIMM44	19	7999057	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	1248677	7999057	51129926	909	143902											
MYO1F	4542	broad.mit.edu	37	chr19	8620591	8620591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggttggcggcaatggcGtcttcggtgatctggggaag	19	7	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:8620591G>A	uc002mkg.2	-	2	207	c.93C>T	c.(91-93)GAC>GAT	p.D31D	MYO1F_uc002mkh.2_Silent_p.D31D|MYO1F_uc010xkf.1_Silent_p.D31D	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	31	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CGGCAATGGCGTCTTCGGTGA	0.617													A	8620591	G	A	8620591	2	1	279	1	0	0	0	0	0	0	0	1	10073	1136	40	1		1	MYO1F	19	8620591	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	621534	8620591	50508392	910	143903											
MUC16	94025	broad.mit.edu	37	chr19	9056201	9056201	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgagagtgaaggaacTtgataagcacttgtcactgt	12	6	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:9056201T>G	uc002mkp.2	-	3	31449	c.31245A>C	c.(31243-31245)CAA>CAC	p.Q10415H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10417	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGAAGGAACTTGATAAGCAC	0.478													G	9056201	T	G	9056201	3	3	279	1	0	0	0	0	1	0	0	0	9973	1606	56	5	12606	5	MUC16	19	9056201	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	435610	9056201	50072782	911	143904											
MUC16	94025	broad.mit.edu	37	chr19	9087799	9087799	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctcactgagtggggtgtaGagacctgagctgaacttgta	13	8	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:9087799G>T	uc002mkp.2	-	1	4220	c.4016C>A	c.(4015-4017)TCT>TAT	p.S1339Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1339	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGGGGTGTAGAGACCTGAGC	0.512													T	9087799	G	T	9087799	3	4	279	1	0	0	0	0	1	0	0	0	9973	942	33	5	39843	5	MUC16	19	9087799	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	31598	9087799	50041184	912	143905											
COL5A3	50509	broad.mit.edu	37	chr19	10078753	10078753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccaatgggaccagggggAccctaggaaaaggacatcgg	16	9	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10078753A>G	uc002mmq.1	-	60	4403	c.4317T>C	c.(4315-4317)GGT>GGC	p.G1439G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1439	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GACCAGGGGGACCCTAGGAAA	0.582													G	10078753	A	G	10078753	2	3	279	1	0	0	0	0	0	0	0	1	3698	262	10	3		3	COL5A3	19	10078753	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	990954	10078753	49050230	913	143906											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10224725	10224725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacctgcgacccaagcacGcctgggccgtgagcgctgcc	13	18	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10224725G>A	uc002mna.2	+	13	1696	c.1696G>A	c.(1696-1698)GCC>ACC	p.A566T	PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.A146T	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	Error:Variant_position_missing_in_Q9NQ55_after_alignment					RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			ACCCAAGCACGCCTGGGCCGT	0.682													A	10224725	G	A	10224725	3	1	279	1	0	0	0	0	1	0	0	0	12289	1087	38	1		1	PPAN-P2RY11	19	10224725	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	145972	10224725	48904258	914	143907											
MRPL4	51073	broad.mit.edu	37	chr19	10368989	10368989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcaaagtggcactgacCgtcaagctggcccaggtaca	12	12	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10368989C>T	uc002mnm.2	+	7	691	c.537C>T	c.(535-537)ACC>ACT	p.T179T	MRPL4_uc002mnn.2_Silent_p.T179T|MRPL4_uc002mno.2_Silent_p.T179T	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4 isoform a	179					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGGCACTGACCGTCAAGCTGG	0.637													T	10368989	C	T	10368989	2	4	279	1	0	0	0	0	0	0	0	1	9803	639	23	1		1	MRPL4	19	10368989	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	144264	10368989	48759994	915	143908											
ICAM5	7087	broad.mit.edu	37	chr19	10404979	10404979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgtggccaaaacagtcGtcgtgagcgcggagtgtgag	16	10	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:10404979G>A	uc002mnu.3	+	8	2040	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	ICAM5_uc002mnv.3_Missense_Mutation_p.V534I	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	659	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAAAACAGTCGTCGTGAGCGC	0.657													A	10404979	G	A	10404979	3	1	279	1	0	0	0	0	1	0	0	0	7483	1145	40	1	2005	1	ICAM5	19	10404979	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	35990	10404979	48724004	916	143909											
DOCK6	57572	broad.mit.edu	37	chr19	11323941	11323941	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcggctgccacagtgtcGtaggagcctcaggcacaggt	15	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:11323941G>A	uc002mqs.3	-	35	4443	c.4402C>T	c.(4402-4404)CGA>TGA	p.R1468*	DOCK6_uc010xlq.1_Nonsense_Mutation_p.R807*	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1468					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCACAGTGTCGTAGGAGCCTC	0.652													A	11323941	G	A	11323941	4	1	279	1	0	0	0	0	0	1	0	0	4691	1153	40	1	1797	1	DOCK6	19	11323941	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	918962	11323941	47805042	917	143910											
ACP5	54	broad.mit.edu	37	chr19	11687262	11687262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcgggccagcttcacGtctcggggcctctcaggctg	15	13	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:11687262G>A	uc002msg.3	-	4	677	c.531C>T	c.(529-531)GAC>GAT	p.D177D	ACP5_uc002msh.3_Silent_p.D177D|ACP5_uc002msi.3_Silent_p.D177D|ACP5_uc002msj.3_Silent_p.D177D	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	177				DVKL -> LT (in Ref. 1; AAA76849).	water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						CCAGCTTCACGTCTCGGGGCC	0.597													A	11687262	G	A	11687262	2	1	279	1	0	0	0	0	0	0	0	1	164	1136	40	1		1	ACP5	19	11687262	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	363321	11687262	47441721	918	143911											
ZNF439	90594	broad.mit.edu	37	chr19	11979027	11979027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacagtggagagaaaccGtataaatgcaagcaatgtgg	11	7	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:11979027G>A	uc002mss.2	+	3	1271	c.1143G>A	c.(1141-1143)CCG>CCA	p.P381P	ZNF439_uc002msr.2_Silent_p.P245P	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GAGAGAAACCGTATAAATGCA	0.408													A	11979027	G	A	11979027	2	1	279	1	0	0	0	0	0	0	0	1	17908	1132	40	1		1	ZNF439	19	11979027	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	291765	11979027	47149956	919	143912											
ZNF791	163049	broad.mit.edu	37	chr19	12739129	12739129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacaagtgttctaacacaCatgataacacacaacggaga	6	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:12739129C>T	uc002mua.2	+	4	948	c.786C>T	c.(784-786)CAC>CAT	p.H262H	ZNF791_uc010xml.1_Silent_p.H230H|ZNF791_uc010dyu.1_Silent_p.H153H|ZNF791_uc010xmm.1_Silent_p.H153H	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	262	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTCTAACACACATGATAACAC	0.393													T	12739129	C	T	12739129	2	4	279	1	0	0	0	0	0	0	0	1	18160	477	17	4		4	ZNF791	19	12739129	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	760102	12739129	46389854	920	143913											
MAN2B1	4125	broad.mit.edu	37	chr19	12759984	12759984	+	Frame_Shift_Del	DEL	C	C	-													agccatctctcaggctgctgCccccctgggagcggtcagtc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:12759983_12759983GC>G	uc002mub.2	-	19	2479	c.2403_2403GC>C	c.(2401-2403)ggcfs	p.G801fs	MAN2B1_uc010dyv.1_Frame_Shift_Del_p.G800fs	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	801			G -> D (in AM; no residual enzyme activity).		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						TCAGGCTGCTGCCCCCCTGGG	0.622													-	12759984	C	-	12759984	7	5	279	1	0	1	0	1	0	0	0	0	9216	739	26	0	653	0	MAN2B1	19	12759984	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	20855	12759984	46368999	921	143914											
TNPO2	30000	broad.mit.edu	37	chr19	12813689	12813689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcggttaatgatttccacCaggttgttgaggaccatctg	12	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:12813689C>T	uc002muo.2	-	20	2438	c.2253G>A	c.(2251-2253)CTG>CTA	p.L751L	TNPO2_uc002mup.2_Silent_p.L843L|TNPO2_uc002muq.2_Silent_p.L751L|TNPO2_uc002mur.2_Silent_p.L751L	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	751	HEAT 13.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						TGATTTCCACCAGGTTGTTGA	0.632													T	12813689	C	T	12813689	2	4	279	1	0	0	0	0	0	0	0	1	16333	581	21	4		4	TNPO2	19	12813689	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	53705	12813689	46315294	922	143915											
CYP4F11	57834	broad.mit.edu	37	chr19	16024639	16024639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggggttcagtgtgggtcGgcaggatgcggaagtgcagc	20	7	1	0	rs151267237		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:16024639G>A	uc002nbu.2	-	13	1514	c.1478C>T	c.(1477-1479)CCG>CTG	p.P493L	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Missense_Mutation_p.P493L	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	493					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AGTGTGGGTCGGCAGGATGCG	0.627													A	16024639	G	A	16024639	3	1	279	1	0	0	0	0	1	0	0	0	4186	1116	39	1	100	1	CYP4F11	19	16024639	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3210950	16024639	43104344	923	143916											
C19orf44	84167	broad.mit.edu	37	chr19	16613907	16613907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgagagcatttactgtacCcagcgtggaactctccagcg	10	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:16613907C>A	uc002neh.1	+	3	864	c.791C>A	c.(790-792)CCC>CAC	p.P264H	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.P264H|C19orf44_uc002neg.2_Missense_Mutation_p.P264H|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	264											0						TTTACTGTACCCAGCGTGGAA	0.418													A	16613907	C	A	16613907	3	1	279	1	0	0	0	0	1	0	0	0	1927	623	22	5	797	5	C19orf44	19	16613907	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	589268	16613907	42515076	924	143917											
SIN3B	23309	broad.mit.edu	37	chr19	16962273	16962273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgcagaagaacgagcaCgacaagaccccggagcacag	13	12	0	3	rs149541599		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:16962273C>T	uc002ney.1	+	6	791	c.777C>T	c.(775-777)CAC>CAT	p.H259H	SIN3B_uc002new.2_Silent_p.H259H|SIN3B_uc002nex.2_Silent_p.H191H|SIN3B_uc002nez.1_Silent_p.H259H	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	259					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						AGAACGAGCACGACAAGACCC	0.647													T	16962273	C	T	16962273	2	4	279	1	0	0	0	0	0	0	0	1	14326	535	19	1		1	SIN3B	19	16962273	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	348366	16962273	42166710	925	143918											
CPAMD8	27151	broad.mit.edu	37	chr19	17081703	17081703	+	Splice_Site	DEL	G	G	-													caatgtataagccgttacctGggggggtgcctggaaggagc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:17081702_17081702TG>T	uc002nfb.3	-	18	2386	c.2354_splice	c.e18+1	p.R785_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	738						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						AGCCGTTACCTGGGGGGGTGC	0.572													-	17081703	G	-	17081703	8	5	279	1	0	1	0	1	0	0	1	0	3795	1335	47	0	3546	0	CPAMD8	19	17081703	Splice_Site	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	119430	17081703	42047280	926	143919											
ANO8	57719	broad.mit.edu	37	chr19	17441906	17441906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagtacctgatcagcCtctgtgaatgtgtacaggac	10	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:17441906C>A	uc002ngf.2	-	7	981	c.822G>T	c.(820-822)GAG>GAT	p.E274D	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	274	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						CCTGATCAGCCTCTGTGAATG	0.547													A	17441906	C	A	17441906	3	1	279	1	0	0	0	0	1	0	0	0	703	680	24	5	2924	5	ANO8	19	17441906	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	360203	17441906	41687077	927	143920											
SLC27A1	376497	broad.mit.edu	37	chr19	17611178	17611178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacaatggagctgctgcGggatgcccagggcctctgca	15	12	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:17611178G>A	uc002ngu.1	+	8	1348	c.1298G>A	c.(1297-1299)CGG>CAG	p.R433Q	SLC27A1_uc010xpp.1_Missense_Mutation_p.R254Q|SLC27A1_uc002ngv.1_Missense_Mutation_p.R35Q	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	433	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						GAGCTGCTGCGGGATGCCCAG	0.682													A	17611178	G	A	17611178	3	1	279	1	0	0	0	0	1	0	0	0	14525	1116	39	1	1328	1	SLC27A1	19	17611178	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	169272	17611178	41517805	928	143921											
TMEM161A	54929	broad.mit.edu	37	chr19	19245695	19245695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgtactccgaggaccGcctggggggaggggacatga	17	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:19245695G>A	uc002nlg.2	-	2	35	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.A2V|TMEM161A_uc002nli.2_Missense_Mutation_p.A2V|TMEM161A_uc002nlj.2_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	2					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)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TCCGAGGACCGCCTGGGGGGA	0.627													A	19245695	G	A	19245695	3	1	279	1	0	0	0	0	1	0	0	0	16073	1101	38	1	1478	1	TMEM161A	19	19245695	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1634517	19245695	39883288	929	143922											
ZNF100	163227	broad.mit.edu	37	chr19	21948556	21948556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcatccacttgctccCttgagaggacacattccata	8	14	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:21948556C>A	uc002nqi.2	-	2	235	c.36G>T	c.(34-36)AAG>AAT	p.K12N		NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACTTGCTCCCTTGAGAGGAC	0.478													A	21948556	C	A	21948556	3	1	279	1	0	0	0	0	1	0	0	0	17710	680	24	5	1608	5	ZNF100	19	21948556	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2702861	21948556	37180427	930	143923											
ZNF681	148213	broad.mit.edu	37	chr19	23927980	23927980	+	Frame_Shift_Del	DEL	T	T	-													ttaagtccattataacctccTttttgcactttgcactcatc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:23927980delT	uc002nrk.3	-	4	514	c.372delA	c.(370-372)AAAfs	p.K124fs	ZNF681_uc002nrl.3_Frame_Shift_Del_p.K55fs|ZNF681_uc002nrj.3_Frame_Shift_Del_p.K55fs	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATAACCTCCTTTTTGCACTT	0.294													-	23927980	T	-	23927980	7	5	279	1	0	1	0	1	0	0	0	0	18085	1606	56	0	1569	0	ZNF681	19	23927980	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	1979424	23927980	35201003	931	143924											
TSHZ3	57616	broad.mit.edu	37	chr19	31769223	31769223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacttctcctcttcttcGccaggcttgtctttttgctt	5	14	5	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:31769223G>A	uc002nsy.3	-	2	1541	c.1476C>T	c.(1474-1476)GGC>GGT	p.G492G		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	492					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCTCTTCTTCGCCAGGCTTGT	0.468													A	31769223	G	A	31769223	2	1	279	1	0	0	0	0	0	0	0	1	16622	1074	38	1		1	TSHZ3	19	31769223	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	7841243	31769223	27359760	932	143925											
PDCD5	9141	broad.mit.edu	37	chr19	33076813	33076813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatggacaactaagtgagaaGgtaagcttagacagccttga	11	6	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:33076813G>T	uc002ntm.2	+	4	322	c.258G>T	c.(256-258)AAG>AAT	p.K86N	PDCD5_uc002ntl.2_Missense_Mutation_p.K86N|PDCD5_uc010ede.2_Intron	NM_004708	NP_004699	O14737	PDCD5_HUMAN	programmed cell death 5	86					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			ovary(1)|lung(1)	2	Esophageal squamous(110;0.137)					TAAGTGAGAAGGTAAGCTTAG	0.373													T	33076813	G	T	33076813	3	4	279	1	0	0	0	0	1	0	0	0	11622	1014	35	5	272	5	PDCD5	19	33076813	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1307590	33076813	26052170	933	143926											
KCTD15	79047	broad.mit.edu	37	chr19	34292140	34292140	+	Frame_Shift_Del	DEL	C	C	-													cccctggctgcccagggcatCcccctgccagcccagctcac							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:34292140delC	uc002nuy.3	+	4	403	c.135delC	c.(133-135)ATCfs	p.I45fs	KCTD15_uc002nuv.2_Frame_Shift_Del_p.I45fs|KCTD15_uc002nuw.3_Frame_Shift_Del_p.I45fs|KCTD15_uc010xrt.1_Frame_Shift_Del_p.I45fs|KCTD15_uc002nux.3_Frame_Shift_Del_p.I45fs	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					CCCAGGGCATCCCCCTGCCAG	0.612													-	34292140	C	-	34292140	7	5	279	1	0	1	0	1	0	0	0	0	8102	845	30	0	141	0	KCTD15	19	34292140	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	1215327	34292140	24836843	934	143927											
UBA2	10054	broad.mit.edu	37	chr19	34922769	34922769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtttatttttccaggttGccaaggaaagtgtactgcag	11	6	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:34922769G>A	uc002nvk.2	+	3	296	c.226G>A	c.(226-228)GCC>ACC	p.A76T	UBA2_uc010xrx.1_Intron|UBA2_uc002nvl.2_5'UTR	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	76					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTCCAGGTTGCCAAGGAAAG	0.368													A	34922769	G	A	34922769	3	1	279	1	0	0	0	0	1	0	0	0	16825	1319	46	2	236	2	UBA2	19	34922769	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	630629	34922769	24206214	935	143928											
LSR	51599	broad.mit.edu	37	chr19	35757845	35757845	+	Frame_Shift_Del	DEL	C	C	-													ttcgacccttctcgacctggCccccccagtggccgtgtgga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:35757844_35757844GC>G	uc002nyl.3	+	7	1485	c.1262_1262GC>G	c.(1261-1263)ggcfs	p.G421fs	LSR_uc010xsr.2_Frame_Shift_Del_p.G313fs|LSR_uc002nym.3_Frame_Shift_Del_p.G402fs|LSR_uc002nyn.3_Frame_Shift_Del_p.G353fs|LSR_uc002nyo.3_Frame_Shift_Del_p.G401fs|LSR_uc002nyp.3_Frame_Shift_Del_p.G363fs|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	421					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)			TCTCGACCTGGCCCCCCCAGT	0.622													-	35757845	C	-	35757845	7	5	279	1	0	1	0	1	0	0	0	0	9064	726	26	0	1293	0	LSR	19	35757845	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	835076	35757845	23371138	936	143929											
MLL4	9757	broad.mit.edu	37	chr19	36214714	36214714	+	Frame_Shift_Del	DEL	G	G	-													tggtcctccaggcccacgccGgggggcgggagctggggggc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36214714delG	uc010eei.2	+	9	3140	c.3140delG	c.(3139-3141)CGGfs	p.R1047fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1047					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCCACGCCGGGGGGCGGGA	0.701													-	36214714	G	-	36214714	7	5	279	1	0	1	0	1	0	0	0	0	9623	1116	39	0	3170	0	MLL4	19	36214714	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	456869	36214714	22914269	937	143930											
MLL4	9757	broad.mit.edu	37	chr19	36215971	36215971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgatggtgtgcaccgcGtccgtgtggattttaaggta	13	10	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36215971G>A	uc010eei.2	+	11	3511	c.3511G>A	c.(3511-3513)GTC>ATC	p.V1171I		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1171					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTGCACCGCGTCCGTGTGGA	0.567													A	36215971	G	A	36215971	3	1	279	1	0	0	0	0	1	0	0	0	9623	1145	40	1	3549	1	MLL4	19	36215971	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1257	36215971	22913012	938	143931											
MLL4	9757	broad.mit.edu	37	chr19	36218423	36218423	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcagcgcagccccgctGgcgagaggccctgagcgggg	20	13	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36218423G>A	uc010eei.2	+	17	4202	c.4202G>A	c.(4201-4203)TGG>TAG	p.W1401*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1401					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCCCGCTGGCGAGAGGCC	0.672													A	36218423	G	A	36218423	4	1	279	1	0	0	0	0	0	1	0	0	9623	1357	47	4	4264	4	MLL4	19	36218423	Nonsense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2452	36218423	22910560	939	143932											
MLL4	9757	broad.mit.edu	37	chr19	36228995	36228995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgaggcctgttctgtaAgcgcaacatcgacgcggggg	17	11	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36228995A>G	uc010eei.2	+	37	7775	c.7775A>G	c.(7774-7776)AAG>AGG	p.K2592R		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2592	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTTCTGTAAGCGCAACATC	0.587													G	36228995	A	G	36228995	3	3	279	1	0	0	0	0	1	0	0	0	9623	72	3	3	7917	3	MLL4	19	36228995	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	10572	36228995	22899988	940	143933											
LRFN3	79414	broad.mit.edu	37	chr19	36430697	36430697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggctgacctcactgggcGagggccagctgcgcggcctg	16	15	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:36430697G>A	uc002oco.2	+	2	822	c.370G>A	c.(370-372)GAG>AAG	p.E124K		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	124	LRR 3.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			CTCACTGGGCGAGGGCCAGCT	0.706													A	36430697	G	A	36430697	3	1	279	1	0	0	0	0	1	0	0	0	8939	1059	37	1	372	1	LRFN3	19	36430697	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	201702	36430697	22698286	941	143934											
HKR1	284459	broad.mit.edu	37	chr19	37854267	37854267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacactcaggggagaagCcatttgtatgtgctgagtgt	14	7	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:37854267C>T	uc002ogb.2	+	6	1839	c.1570C>T	c.(1570-1572)CCA>TCA	p.P524S	HKR1_uc002ofx.2_Missense_Mutation_p.P240S|HKR1_uc002ofy.2_Missense_Mutation_p.P240S|HKR1_uc002oga.2_Missense_Mutation_p.P506S|HKR1_uc010xto.1_Missense_Mutation_p.P506S|HKR1_uc002ogc.2_Missense_Mutation_p.P505S|HKR1_uc010xtp.1_Missense_Mutation_p.P463S|HKR1_uc002ogd.2_Missense_Mutation_p.P463S	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	524					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGGAGAAGCCATTTGTATG	0.517													T	37854267	C	T	37854267	3	4	279	1	0	0	0	0	1	0	0	0	7194	739	26	2	1584	2	HKR1	19	37854267	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1423570	37854267	21274716	942	143935											
SIPA1L3	23094	broad.mit.edu	37	chr19	38573387	38573387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcccacagcctcggaggCctggacccggccttcaccag	13	18	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:38573387C>T	uc002ohk.2	+	3	1691	c.1182C>T	c.(1180-1182)GGC>GGT	p.G394G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	394					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTCGGAGGCCTGGACCCGG	0.682													T	38573387	C	T	38573387	2	4	279	1	0	0	0	0	0	0	0	1	14331	726	26	2		2	SIPA1L3	19	38573387	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	719120	38573387	20555596	943	143936											
CATSPERG	57828	broad.mit.edu	37	chr19	38850136	38850136	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaaacttcatctaccTggcagacttccccaaggaac	7	13	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:38850136T>G	uc002oih.3	+	14	1610	c.1523T>G	c.(1522-1524)CTG>CGG	p.L508R	CATSPERG_uc002oig.3_Missense_Mutation_p.L468R|CATSPERG_uc002oif.3_Missense_Mutation_p.L148R|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	508	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TTCATCTACCTGGCAGACTTC	0.572													G	38850136	T	G	38850136	3	3	279	1	0	0	0	0	1	0	0	0	2692	1580	55	5	1573	5	CATSPERG	19	38850136	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	276749	38850136	20278847	944	143937											
RYR1	6261	broad.mit.edu	37	chr19	38948905	38948905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgacctctattcctacGgctttgatggactgcatctc	9	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:38948905G>A	uc002oit.2	+	18	2270	c.2140G>A	c.(2140-2142)GGC>AGC	p.G714S	RYR1_uc002oiu.2_Missense_Mutation_p.G714S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	714	Cytoplasmic.|B30.2/SPRY 1.				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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATTCCTACGGCTTTGATGG	0.637													A	38948905	G	A	38948905	3	1	279	1	0	0	0	0	1	0	0	0	13768	1116	39	1	2210	1	RYR1	19	38948905	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	98769	38948905	20180078	945	143938											
ACTN4	81	broad.mit.edu	37	chr19	39219655	39219655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaggccgagttcaaccGcatcatgagcctggtcgacc	14	12	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:39219655G>A	uc002oja.1	+	20	2497	c.2438G>A	c.(2437-2439)CGC>CAC	p.R813H	ACTN4_uc002ojb.1_Missense_Mutation_p.R135H	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	813	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				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGTTCAACCGCATCATGAGC	0.637													A	39219655	G	A	39219655	3	1	279	1	0	0	0	0	1	0	0	0	207	1087	38	1	2516	1	ACTN4	19	39219655	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	270750	39219655	19909328	946	143939											
NCCRP1	342897	broad.mit.edu	37	chr19	39691081	39691081	+	Frame_Shift_Del	DEL	C	C	-													cattgctcagcaccacgtggCcccccgaacttctgggagag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:39691081delC	uc002okq.1	+	5	663	c.644delC	c.(643-645)GCCfs	p.A215fs		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	215	FBA.				protein catabolic process					ovary(1)	1						CACCACGTGGCCCCCCGAACT	0.672													-	39691081	C	-	39691081	7	5	279	1	0	1	0	1	0	0	0	0	10213	739	26	0	662	0	NCCRP1	19	39691081	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	471426	39691081	19437902	947	143940											
DYRK1B	9149	broad.mit.edu	37	chr19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-													acgaccaaggtatcggggctGggggggtaactgggccccgg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:40316611_40316611TG>T	uc002omj.3	-	10	1914	c.1634_1634CA>A	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.Q517fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.Q505fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	545					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)			GTATCGGGGCTGGGGGGGTAA	0.687													-	40316612	G	-	40316612	7	5	279	1	0	1	0	1	0	0	0	0	4855	1357	47	0	260	0	DYRK1B	19	40316612	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	625531	40316612	18812371	948	143941											
FBL	2091	broad.mit.edu	37	chr19	40325193	40325193	+	Frame_Shift_Del	DEL	G	G	-													gaacttcagttcttcaccttGgggggtggcctgtgagagga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:40325193delG	uc002omn.2	-	9	1065	c.951delC	c.(949-951)CCCfs	p.P317fs	DYRK1B_uc002omi.2_5'Flank|DYRK1B_uc002omj.2_5'Flank|DYRK1B_uc002omk.2_5'Flank|DYRK1B_uc002oml.2_5'Flank|FBL_uc002omm.1_3'UTR	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	317					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCTTCACCTTGGGGGGTGGCC	0.507													-	40325193	G	-	40325193	7	5	279	1	0	1	0	1	0	0	0	0	5696	1335	47	0	18	0	FBL	19	40325193	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	8581	40325193	18803790	949	143942											
PRX	57716	broad.mit.edu	37	chr19	40899951	40899951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaccccacgctgggcagCcgcacccgcaatccaccctc	8	20	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:40899951C>T	uc002onr.2	-	7	4577	c.4308G>A	c.(4306-4308)CGG>CGA	p.R1436R	PRX_uc002onq.2_Silent_p.R1297R|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1436					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCTGGGCAGCCGCACCCGCA	0.657													T	40899951	C	T	40899951	2	4	279	1	0	0	0	0	0	0	0	1	12642	726	26	2		2	PRX	19	40899951	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	574758	40899951	18229032	950	143943											
LTBP4	8425	broad.mit.edu	37	chr19	41128322	41128322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacgttcccaggctcGcagccccaggcacctgctag	11	18	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41128322G>A	uc002ooh.1	+	27	3435	c.3435G>A	c.(3433-3435)TCG>TCA	p.S1145S	LTBP4_uc002oog.1_Silent_p.S1108S|LTBP4_uc002ooi.1_Silent_p.S1078S|LTBP4_uc002ooj.1_Silent_p.S18S|LTBP4_uc002ook.1_Silent_p.S279S|LTBP4_uc002ool.1_Silent_p.S157S|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1145	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)			TCCCAGGCTCGCAGCCCCAGG	0.677													A	41128322	G	A	41128322	2	1	279	1	0	0	0	0	0	0	0	1	9076	1074	38	1		1	LTBP4	19	41128322	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	228371	41128322	18000661	951	143944											
AXL	558	broad.mit.edu	37	chr19	41749584	41749584	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtaccgcgtgcgcaagtcCtacagtcgtcggaccactga	12	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41749584C>A	uc010ehj.2	+	12	1699	c.1509C>A	c.(1507-1509)TCC>TCA	p.S503S	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.S503S|AXL_uc010ehk.2_Silent_p.S494S	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	503	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TGCGCAAGTCCTACAGTCGTC	0.562													A	41749584	C	A	41749584	2	1	279	1	0	0	0	0	0	0	0	1	1238	668	24	5		5	AXL	19	41749584	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	621262	41749584	17379399	952	143945											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41808818	41808818	+	Frame_Shift_Del	DEL	G	G	-													gtggcggcttccagaaccgaGggggaggcagcggtggagga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41808818delG	uc002oqb.3	+	12	2225	c.1936delG	c.(1936-1938)GGGfs	p.G646fs	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc002oqa.3_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010ehm.2_Frame_Shift_Del_p.G646fs|HNRNPUL1_uc002oqc.3_Frame_Shift_Del_p.G532fs|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010ehn.2_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010eho.2_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010xvy.1_Frame_Shift_Del_p.G546fs|HNRNPUL1_uc010ehp.2_Frame_Shift_Del_p.G502fs|HNRNPUL1_uc002oqf.3_Frame_Shift_Del_p.G170fs	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	646	Necessary for transcription repression.|Necessary for interaction with TP53.|Gly-rich.|1-4.|5 X 3 AA repeats of R-G-G.				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			central_nervous_system(1)|skin(1)	2						CCAGAACCGAGGGGGAGGCAG	0.642													-	41808818	G	-	41808818	7	5	279	1	0	1	0	1	0	0	0	0	7274	1000	35	0	1982	0	HNRNPUL1	19	41808818	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	59234	41808818	17320165	953	143946											
CCDC97	90324	broad.mit.edu	37	chr19	41828591	41828591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggaagaacctgaggatGcgcccagcccagagctggat	14	10	0	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:41828591G>A	uc002oqg.2	+	5	1125	c.1003G>A	c.(1003-1005)GCG>ACG	p.A335T	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	335											0						ACCTGAGGATGCGCCCAGCCC	0.617													A	41828591	G	A	41828591	3	1	279	1	0	0	0	0	1	0	0	0	2875	1319	46	2	1021	2	CCDC97	19	41828591	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	19773	41828591	17300392	954	143947											
ATP1A3	478	broad.mit.edu	37	chr19	42492119	42492119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtcgtcctcggtgcccGcctggataccgtaggccagg	16	13	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:42492119G>A	uc002osg.2	-	4	480	c.326C>T	c.(325-327)GCG>GTG	p.A109V	ATP1A3_uc010xwf.1_Missense_Mutation_p.A120V|ATP1A3_uc010xwg.1_Missense_Mutation_p.A79V|ATP1A3_uc010xwh.1_Missense_Mutation_p.A122V|ATP1A3_uc002osh.2_Missense_Mutation_p.A109V	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	109	Extracellular (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CTCGGTGCCCGCCTGGATACC	0.607													A	42492119	G	A	42492119	3	1	279	1	0	0	0	0	1	0	0	0	1130	1087	38	1	2795	1	ATP1A3	19	42492119	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	663528	42492119	16636864	955	143948											
CIC	23152	broad.mit.edu	37	chr19	42797376	42797376	+	Frame_Shift_Del	DEL	C	C	-													actcccacggcccggagcagCcccccactgcccccacctgc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:42797376delC	uc002otf.1	+	15	3778	c.3738delC	c.(3736-3738)AGCfs	p.S1246fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1246	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCCGGAGCAGCCCCCCACTGC	0.706			T	DUX4	soft tissue sarcoma								-	42797376	C	-	42797376	7	5	279	1	0	1	0	1	0	0	0	0	3424	738	26	0	3796	0	CIC	19	42797376	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	305257	42797376	16331607	956	143949											
MEGF8	1954	broad.mit.edu	37	chr19	42853697	42853697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagaaggagacgcggcGgctgcagcgccctgggtctg	18	11	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:42853697G>T	uc002otl.3	+	13	2779	c.2144G>T	c.(2143-2145)CGG>CTG	p.R715L	MEGF8_uc002otm.3_Missense_Mutation_p.R323L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	782	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GAGACGCGGCGGCTGCAGCGC	0.652													T	42853697	G	T	42853697	3	4	279	1	0	0	0	0	1	0	0	0	9463	1116	39	5	2194	5	MEGF8	19	42853697	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	56321	42853697	16275286	957	143950											
PSG7	5676	broad.mit.edu	37	chr19	43430061	43430061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgatagctgaaacttcccAttaattgtccaagaatactg	6	10	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:43430061A>G	uc002ovl.3	-	6	1209	c.1107T>C	c.(1105-1107)AAT>AAC	p.N369N	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Silent_p.N282N|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Silent_p.N95N|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.N282N|PSG7_uc010xwl.1_Silent_p.N247N	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	369	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GAAACTTCCCATTAATTGTCC	0.453													G	43430061	A	G	43430061	2	3	279	1	0	0	0	0	0	0	0	1	12660	214	8	3		3	PSG7	19	43430061	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	576364	43430061	15698922	958	143951											
ZNF221	7638	broad.mit.edu	37	chr19	44466912	44466912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgaactgcttcattcaGgactctgcaaattccctgaa	6	12	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:44466912G>A	uc002oxx.2	+	3	362	c.34G>A	c.(34-36)GGA>AGA	p.G12R	ZNF221_uc010ejb.1_Missense_Mutation_p.G12R|ZNF221_uc010xws.1_Missense_Mutation_p.G12R	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				GCTTCATTCAGGACTCTGCAA	0.423													A	44466912	G	A	44466912	3	1	279	1	0	0	0	0	1	0	0	0	17772	1001	35	4	36	4	ZNF221	19	44466912	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1036851	44466912	14662071	959	143952											
APOE	348	broad.mit.edu	37	chr19	45412438	45412438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatgcagcgccagtgggcCgggctggtggagaaggtgca	19	9	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:45412438C>T	uc002pab.2	+	4	968	c.885C>T	c.(883-885)GCC>GCT	p.A295A		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	295					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCAGTGGGCCGGGCTGGTGG	0.692													T	45412438	C	T	45412438	2	4	279	1	0	0	0	0	0	0	0	1	802	639	23	1		1	APOE	19	45412438	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	945526	45412438	13716545	960	143953											
EHD2	30846	broad.mit.edu	37	chr19	48229320	48229320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcccgaggtgctgcgcGtctacatcggctccttctgg	13	15	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:48229320G>A	uc002phj.3	+	4	1004	c.754G>A	c.(754-756)GTC>ATC	p.V252I	EHD2_uc010xyu.1_Missense_Mutation_p.V116I|EHD2_uc010xyv.1_5'Flank	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	252					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		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)		GGTGCTGCGCGTCTACATCGG	0.677													A	48229320	G	A	48229320	3	1	279	1	0	0	0	0	1	0	0	0	4978	1145	40	1	764	1	EHD2	19	48229320	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2816882	48229320	10899663	961	143954											
RPL18	6141	broad.mit.edu	37	chr19	49118647	49118647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagtttttgtagcctcgGctggcccgtcggcctctggc	14	12	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49118647G>A	uc002pjq.1	-	7	582	c.549C>T	c.(547-549)AGC>AGT	p.S183S	FAM83E_uc002pjn.2_5'Flank|RPL18_uc002pjp.1_Silent_p.S131S	NM_000979	NP_000970	Q07020	RL18_HUMAN	ribosomal protein L18	183					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TGTAGCCTCGGCTGGCCCGTC	0.552													A	49118647	G	A	49118647	2	1	279	1	0	0	0	0	0	0	0	1	13564	1194	42	2		2	RPL18	19	49118647	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	889327	49118647	10010336	962	143955											
BCAT2	587	broad.mit.edu	37	chr19	49299906	49299906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagccaaagacttcccgcaCgcggccctcctccagggccc	10	20	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49299906C>T	uc002pkr.2	-	9	1031	c.994G>A	c.(994-996)GTG>ATG	p.V332M	BCAT2_uc002pkp.2_Missense_Mutation_p.V292M|BCAT2_uc002pkq.3_Missense_Mutation_p.V292M|BCAT2_uc002pks.2_Missense_Mutation_p.V292M|BCAT2_uc002pkt.2_Missense_Mutation_p.V240M|BCAT2_uc010emh.1_Missense_Mutation_p.V332M|BCAT2_uc010emi.1_Missense_Mutation_p.V240M	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	332						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		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)	ACTTCCCGCACGCGGCCCTCC	0.652													T	49299906	C	T	49299906	3	4	279	1	0	0	0	0	1	0	0	0	1355	536	19	1	196	1	BCAT2	19	49299906	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	181259	49299906	9829077	963	143956											
BAX	581	broad.mit.edu	37	chr19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G													aggatcgagcagggcgaatgINSgggggggaggcacccgagct					rs141306106	byFrequency	TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|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	p.E41fs*19(1)|p.R37*(1)		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)		GCAGGGCGAATGGGGGGGGAGG	0.594													G	49458972	-	G	49458971	7	5	279	1	0	1	1	0	0	0	0	0	1328	1348	47	0	124	0	BAX	19	49458971	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	159065	49458971	9670012	964	143957											
GYS1	2997	broad.mit.edu	37	chr19	49494662	49494662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgctccgtgtacggcCccaccaggaagtagttgtcg	12	15	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49494662C>A	uc002plp.2	-	2	438	c.197G>T	c.(196-198)GGG>GTG	p.G66V	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.G66V|GYS1_uc010xzz.1_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	66					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		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)		CGTGTACGGCCCCACCAGGAA	0.642													A	49494662	C	A	49494662	3	1	279	1	0	0	0	0	1	0	0	0	6912	623	22	5	2076	5	GYS1	19	49494662	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	35691	49494662	9634321	965	143958											
CGB8	94115	broad.mit.edu	37	chr19	49558254	49558255	+	In_Frame_Ins	INS	-	-	CAG													ccatgctcagcagcagcaacINSagcagcagcccctgggacaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49558253_49558254A>ACAG	uc002pmd.3	-	1	1247_1248	c.27_28T>CTGT	c.(25-30)ctgttg>ctCTGTtg	p.L10C	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_In_Frame_Ins_p.L10C	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	10					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	AGCAGCAGCAACAGCAGCAGCC	0.653													CAG	49558255	-	CAG	49558254	7	5	279	1	0	1	1	0	0	0	0	0	3301	465	17	0		0	CGB8	19	49558254	In_Frame_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	63592	49558254	9570729	966	143959											
TRPM4	54795	broad.mit.edu	37	chr19	49671926	49671926	+	Frame_Shift_Del	DEL	G	G	-													gacggcacacacggctgcctGgggggcgagaaccgcttccg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49671926delG	uc002pmw.2	+	6	801	c.729delG	c.(727-729)CTGfs	p.L243fs	TRPM4_uc010emu.2_Frame_Shift_Del_p.L243fs|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Frame_Shift_Del_p.L69fs|TRPM4_uc010emv.2_Frame_Shift_Del_p.L128fs|TRPM4_uc010yal.1_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	243	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		ACGGCTGCCTGGGGGGCGAGA	0.652													-	49671926	G	-	49671926	7	5	279	1	0	1	0	1	0	0	0	0	16585	1335	47	0	751	0	TRPM4	19	49671926	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	113672	49671926	9457057	967	143960											
PIH1D1	55011	broad.mit.edu	37	chr19	49949891	49949891	+	Frame_Shift_Del	DEL	G	G	-													gtctagatgatacagctgctGggggccccccatcaccaggc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:49949891delG	uc002pns.2	-	8	1032	c.748delC	c.(748-750)CAGfs	p.Q250fs	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	250					box C/D snoRNP assembly	pre-snoRNP complex					0		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)		TACAGCTGCTGGGGGCCCCCC	0.622													-	49949891	G	-	49949891	7	5	279	1	0	1	0	1	0	0	0	0	11906	1357	47	0	132	0	PIH1D1	19	49949891	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	277965	49949891	9179092	968	143961											
PRR12	57479	broad.mit.edu	37	chr19	50099705	50099705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctgcagagtgtcatcCgcaccagtgccagcctggat	10	15	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:50099705C>T	uc002poo.3	+	4	2113	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GAGTGTCATCCGCACCAGTGC	0.662													T	50099705	C	T	50099705	3	4	279	1	0	0	0	0	1	0	0	0	12584	652	23	1	2127	1	PRR12	19	50099705	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	149814	50099705	9029278	969	143962											
PTOV1	53635	broad.mit.edu	37	chr19	50357780	50357780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagctgctggcttggagcGgcgtcctcgagtggcaggag	17	10	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:50357780G>A	uc002pqf.1	+	2	459	c.289G>A	c.(289-291)GGC>AGC	p.G97S	uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Missense_Mutation_p.G65S|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.G65S|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		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;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGCTTGGAGCGGCGTCCTCGA	0.687													A	50357780	G	A	50357780	3	1	279	1	0	0	0	0	1	0	0	0	12769	1116	39	1	295	1	PTOV1	19	50357780	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	258075	50357780	8771203	970	143963											
FPR1	2357	broad.mit.edu	37	chr19	52249510	52249510	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagaaaaaaggctgctgcGacaaaggagaggacccgtaa	13	8	0	2	rs148898220		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:52249510G>A	uc002pxq.2	-	2	833	c.738C>T	c.(736-738)GTC>GTT	p.V246V		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	246	Helical; Name=6; (Potential).				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			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGGCTGCTGCGACAAAGGAGA	0.493													A	52249510	G	A	52249510	2	1	279	1	0	0	0	0	0	0	0	1	6038	1045	37	1		1	FPR1	19	52249510	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1891730	52249510	6879473	971	143964											
PRKCG	5582	broad.mit.edu	37	chr19	54395893	54395893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaaggcgcccgtggatGgctggtgaggagcagggctg	19	9	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:54395893G>T	uc002qcq.1	+	7	1099	c.817G>T	c.(817-819)GGC>TGC	p.G273C	PRKCG_uc010eqz.1_Missense_Mutation_p.G273C|PRKCG_uc010yef.1_Missense_Mutation_p.G273C|PRKCG_uc010yeg.1_Missense_Mutation_p.G273C|PRKCG_uc010yeh.1_Missense_Mutation_p.G160C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	273					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			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	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)		GCCCGTGGATGGCTGGTGAGG	0.637													T	54395893	G	T	54395893	3	4	279	1	0	0	0	0	1	0	0	0	12512	1348	47	5	843	5	PRKCG	19	54395893	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2146383	54395893	4733090	972	143965											
CACNG7	59284	broad.mit.edu	37	chr19	54417817	54417817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggagatcaatttggtgaCggaaaacacggagaatattc	11	7	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:54417817C>T	uc002qcr.1	+	2	275	c.260C>T	c.(259-261)ACG>ATG	p.T87M	CACNG7_uc010era.1_Missense_Mutation_p.T87M	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	87					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			ovary(1)	1	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)		AATTTGGTGACGGAAAACACG	0.552													T	54417817	C	T	54417817	3	4	279	1	0	0	0	0	1	0	0	0	2562	536	19	1	266	1	CACNG7	19	54417817	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	21924	54417817	4711166	973	143966											
LILRA2	11027	broad.mit.edu	37	chr19	55087402	55087402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaccaaggagggggcaGgccatcccccactgcatctg	12	14	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:55087402G>T	uc002qgg.3	+	6	1170	c.1081G>T	c.(1081-1083)GGC>TGC	p.G361C	LILRA2_uc010ern.2_Missense_Mutation_p.G361C|LILRA2_uc002qgf.2_Missense_Mutation_p.G361C|LILRA2_uc010yfe.1_Missense_Mutation_p.G361C|LILRA2_uc010yff.1_Missense_Mutation_p.G349C|LILRA2_uc010ero.2_Missense_Mutation_p.G349C|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	361	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GGAGGGGGCAGGCCATCCCCC	0.612													T	55087402	G	T	55087402	3	4	279	1	0	0	0	0	1	0	0	0	8785	1000	35	5	1103	5	LILRA2	19	55087402	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	669585	55087402	4041581	974	143967											
LILRB1	10859	broad.mit.edu	37	chr19	55144041	55144041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtataaggacggggaacGtgacttccttcagctcgctg	12	10	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:55144041G>A	uc002qgj.2	+	7	1128	c.788G>A	c.(787-789)CGT>CAT	p.R263H	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.R263H|LILRB1_uc002qgk.2_Missense_Mutation_p.R263H|LILRB1_uc002qgm.2_Missense_Mutation_p.R263H|LILRB1_uc010erq.2_Missense_Mutation_p.R263H|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	263	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		GACGGGGAACGTGACTTCCTT	0.617										HNSCC(37;0.09)			A	55144041	G	A	55144041	3	1	279	1	0	0	0	0	1	0	0	0	8790	1145	40	1	806	1	LILRB1	19	55144041	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	56639	55144041	3984942	975	143968											
NLRP13	126204	broad.mit.edu	37	chr19	56413493	56413493	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcttgctcagattcagGtgtgtcaggctcctgttctg	11	10	5	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:56413493G>A	uc010ygg.1	-	9	2722	c.2697C>T	c.(2695-2697)CAC>CAT	p.H899H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	899	LRR 4.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAGATTCAGGTGTGTCAGGC	0.557													A	56413493	G	A	56413493	2	1	279	1	0	0	0	0	0	0	0	1	10475	1252	44	4		4	NLRP13	19	56413493	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1269452	56413493	2715490	976	143969											
ZIM2	23619	broad.mit.edu	37	chr19	57286450	57286450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacacgttcacagagattcGcacactggacggaaggcttt	10	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:57286450G>A	uc002qnr.2	-	11	1572	c.1190C>T	c.(1189-1191)GCG>GTG	p.A397V	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.A193V|ZIM2_uc010ygr.1_Missense_Mutation_p.A193V|ZIM2_uc002qnq.2_Missense_Mutation_p.A397V|ZIM2_uc010etp.2_Missense_Mutation_p.A397V|ZIM2_uc010ygs.1_Missense_Mutation_p.A397V	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACAGAGATTCGCACACTGGAC	0.458													A	57286450	G	A	57286450	3	1	279	1	0	0	0	0	1	0	0	0	17681	1087	38	1	397	1	ZIM2	19	57286450	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	872957	57286450	1842533	977	143970											
ZNF548	147694	broad.mit.edu	37	chr19	57910087	57910087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatttgggaagaaccaCagagttcacatggcagagga	11	9	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:57910087C>A	uc002qom.2	+	3	682	c.432C>A	c.(430-432)CAC>CAA	p.H144Q	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.H147Q	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	144					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)		GGAAGAACCACAGAGTTCACA	0.488													A	57910087	C	A	57910087	3	1	279	1	0	0	0	0	1	0	0	0	17977	477	17	5	482	5	ZNF548	19	57910087	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	623637	57910087	1218896	978	143971											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189949	58189949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttaagtatctctgtcaCttattagctcaccagagaag	7	9	4	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:58189949C>T	uc002qpu.2	+	5	1675	c.978C>T	c.(976-978)CAC>CAT	p.H326H		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	326	C2H2-type 1.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		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)		ATCTCTGTCACTTATTAGCTC	0.438													T	58189949	C	T	58189949	2	4	279	1	0	0	0	0	0	0	0	1	18234	564	20	4		4	ZSCAN4	19	58189949	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	279862	58189949	939034	979	143972											
ZNF551	90233	broad.mit.edu	37	chr19	58198694	58198694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagctacaaatctaacctcAttgaacaccagagagttcac	5	11	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:58198694A>G	uc002qpw.3	+	3	1226	c.1003A>G	c.(1003-1005)ATT>GTT	p.I335V	ZNF551_uc002qpv.3_Missense_Mutation_p.I278V|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	351	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		ATCTAACCTCATTGAACACCA	0.453													G	58198694	A	G	58198694	3	3	279	1	0	0	0	0	1	0	0	0	17980	217	8	3	1013	3	ZNF551	19	58198694	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	8745	58198694	930289	980	143973											
ZNF552	79818	broad.mit.edu	37	chr19	58319557	58319557	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctttcggcaaaagattTcccacattcactgcactcat	7	12	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr19:58319557T>G	uc002qqg.2	-	3	1245	c.1075A>C	c.(1075-1077)AAA>CAA	p.K359Q	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.K355Q	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	359	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0259)		GCAAAAGATTTCCCACATTCA	0.433													G	58319557	T	G	58319557	3	3	279	1	0	0	0	0	1	0	0	0	17981	1792	62	5	152	5	ZNF552	19	58319557	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	120863	58319557	809426	981	143974											
SDCBP2	27111	broad.mit.edu	37	chr20	1291095	1291095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtggcttcaggcatctGggatggagtggtccatggtg	17	7	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:1291095G>A	uc002wev.3	-	9	998	c.869C>T	c.(868-870)CCA>CTA	p.P290L	SDCBP2_uc002weu.3_Missense_Mutation_p.P205L	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	290					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						TCAGGCATCTGGGATGGAGTG	0.637													A	1291095	G	A	1291095	3	1	279	1	0	0	0	0	1	0	0	0	13956	1348	47	4	13	4	SDCBP2	20	1291095	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		1291095	61734425	982	143975											
ATRN	8455	broad.mit.edu	37	chr20	3540127	3540127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattctttggcattataCaaggtaaagcatctccactc	7	10	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:3540127C>T	uc002wim.2	+	7	1290	c.1200C>T	c.(1198-1200)TAC>TAT	p.Y400Y	ATRN_uc002wil.2_Silent_p.Y400Y	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	400	Extracellular (Potential).|Kelch 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						TGGCATTATACAAGGTAAAGC	0.383													T	3540127	C	T	3540127	2	4	279	1	0	0	0	0	0	0	0	1	1206	489	17	4		4	ATRN	20	3540127	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2249032	3540127	59485393	983	143976											
CDS2	8760	broad.mit.edu	37	chr20	5167481	5167481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatccagtcagtcattgGctgggtatgtgccactcaca	12	10	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:5167481G>A	uc002wls.2	+	10	1234	c.977G>A	c.(976-978)GGC>GAC	p.G326D	CDS2_uc002wlr.1_Missense_Mutation_p.G248D|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.G271D|CDS2_uc010zqu.1_Missense_Mutation_p.G206D|CDS2_uc002wlv.2_Missense_Mutation_p.G228D|CDS2_uc010zqv.1_Intron	NM_003818	NP_003809	O95674	CDS2_HUMAN	phosphatidate cytidylyltransferase 2	326					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity				0						TCAGTCATTGGCTGGGTATGT	0.547													A	5167481	G	A	5167481	3	1	279	1	0	0	0	0	1	0	0	0	3178	1203	42	2	1015	2	CDS2	20	5167481	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1627354	5167481	57858039	984	143977											
PLCB4	5332	broad.mit.edu	37	chr20	9352960	9352960	+	Frame_Shift_Del	DEL	T	T	-													ttccttacagaatgatgaaaTtgagcccacagcattttctt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:9352959_9352959AT>A	uc021wam.1	+	7	610	c.595_595AT>A	c.(595-597)attfs	p.I199fs	PLCB4_uc010gbw.1_Frame_Shift_Del_p.I199fs|PLCB4_uc010gbx.3_Frame_Shift_Del_p.I199fs|PLCB4_uc021wal.1_Frame_Shift_Del_p.I199fs|PLCB4_uc002wnh.3_Frame_Shift_Del_p.I46fs	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	199					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						GAATGATGAAATTGAGCCCAC	0.373													-	9352960	T	-	9352960	7	5	279	1	0	1	0	1	0	0	0	0	12030	1493	52	0	626	0	PLCB4	20	9352960	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	4185479	9352960	53672560	985	143978											
JAG1	182	broad.mit.edu	37	chr20	10629248	10629248	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagacactggaatctgttGatttcattctgacagtgacc	8	10	3	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:10629248G>A	uc002wnw.2	-	12	2034	c.1518C>T	c.(1516-1518)ATC>ATT	p.I506I	JAG1_uc010gcd.1_Silent_p.I64I	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	506	EGF-like 8; calcium-binding (Potential).|Extracellular (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			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GGAATCTGTTGATTTCATTCT	0.507									Alagille_Syndrome				A	10629248	G	A	10629248	2	1	279	1	0	0	0	0	0	0	0	1	7934	1280	45	4		4	JAG1	20	10629248	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1276288	10629248	52396272	986	143979											
KIF16B	55614	broad.mit.edu	37	chr20	16359706	16359706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactttttcctcctgacGtgcaatgttggcagtgaatt	8	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:16359706G>A	uc002wpg.1	-	19	3099	c.2941C>T	c.(2941-2943)CGT>TGT	p.R981C	KIF16B_uc002wpe.1_Missense_Mutation_p.R363C|KIF16B_uc002wpf.1_Missense_Mutation_p.R363C|KIF16B_uc010gch.1_Missense_Mutation_p.R981C|KIF16B_uc010gci.1_Missense_Mutation_p.R981C|KIF16B_uc010gcj.1_Missense_Mutation_p.R992C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	981	Glu-rich.|Potential.				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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCCTCCTGACGTGCAATGTTG	0.512													A	16359706	G	A	16359706	3	1	279	1	0	0	0	0	1	0	0	0	8278	1145	40	1	1044	1	KIF16B	20	16359706	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5730458	16359706	46665814	987	143980											
RIN2	54453	broad.mit.edu	37	chr20	19981453	19981454	+	Frame_Shift_Ins	INS	-	-	A													gcagaggacacttaccctcaINSaaaaatcaaggcggagctgc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:19981452_19981453C>CA	uc002wro.2	+	11	2856_2857	c.2707_2708C>CA	c.(2707-2709)caafs	p.Q903fs	RIN2_uc010gcu.2_Frame_Shift_Ins_p.Q421fs|RIN2_uc010gcv.2_Frame_Shift_Ins_p.Q648fs	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	854					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CACTTACCCTCAAAAAATCAAG	0.52													A	19981454	-	A	19981453	7	5	279	1	0	1	1	0	0	0	0	0	13372	130	5	0	2603	0	RIN2	20	19981453	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	3621747	19981453	43044067	988	143981											
CD93	22918	broad.mit.edu	37	chr20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-													gccgcagaggaaggagccatCccccccttcaaagcagtcct							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:23065991_23065991TC>T	uc002wsv.3	-	0	987	c.839_839GA>A	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	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	p.D280N(1)		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)					GAAGGAGCCATCCCCCCCTTC	0.632													-	23065992	C	-	23065992	7	5	279	1	0	1	0	1	0	0	0	0	3047	855	30	0	1128	0	CD93	20	23065992	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	3084539	23065992	39959528	989	143982											
CST7	8530	broad.mit.edu	37	chr20	24938043	24938043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaagttcaacaactgcaCgaacgacatgttcttgttca	7	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:24938043C>T	uc002wtx.1	+	2	467	c.257C>T	c.(256-258)ACG>ATG	p.T86M		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	64					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						AACAACTGCACGAACGACATG	0.493													T	24938043	C	T	24938043	3	4	279	1	0	0	0	0	1	0	0	0	3977	536	19	1	197	1	CST7	20	24938043	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1872051	24938043	38087477	990	143983											
GDF5	8200	broad.mit.edu	37	chr20	34025211	34025211	+	Frame_Shift_Del	DEL	G	G	-													atgtactcgtggggtgtgatGgggggtgggcgaaacggctc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:34025210_34025210TG>T	uc010gfc.1	-	0	740	c.499_499CA>A	c.(499-501)atcfs	p.I167fs	GDF5_uc002xck.1_Frame_Shift_Del_p.I167fs	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	167					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)			TGGGGTGTGATGGGGGGTGGG	0.632													-	34025211	G	-	34025211	7	5	279	1	0	1	0	1	0	0	0	0	6316	1335	47	0	1015	0	GDF5	20	34025211	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	9087168	34025211	29000309	991	143984											
RALGAPB	57148	broad.mit.edu	37	chr20	37168534	37168534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggatctgcactccaTgatagtggcagcttttcagt	10	11	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:37168534T>C	uc002xiw.2	+	17	2752	c.2495T>C	c.(2494-2496)ATG>ACG	p.M832T	RALGAPB_uc002xix.2_Missense_Mutation_p.M828T|RALGAPB_uc002xiy.1_Missense_Mutation_p.M832T|RALGAPB_uc002xiz.2_Missense_Mutation_p.M610T|RALGAPB_uc002xja.1_Missense_Mutation_p.M559T	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	832					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CTGCACTCCATGATAGTGGCA	0.453													C	37168534	T	C	37168534	3	2	279	1	0	0	0	0	1	0	0	0	13015	1464	51	3	2557	3	RALGAPB	20	37168534	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3143323	37168534	25856986	992	143985											
PPP1R16B	26051	broad.mit.edu	37	chr20	37464806	37464806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggcctcgctgaggaacGacgccgaggaaggtaggccc	17	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:37464806G>A	uc002xje.2	+	2	427	c.238G>A	c.(238-240)GAC>AAC	p.D80N	PPP1R16B_uc010ggc.2_Missense_Mutation_p.D80N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	80					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GCTGAGGAACGACGCCGAGGA	0.652													A	37464806	G	A	37464806	3	1	279	1	0	0	0	0	1	0	0	0	12366	1058	37	1	240	1	PPP1R16B	20	37464806	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	296272	37464806	25560714	993	143986											
DHX35	60625	broad.mit.edu	37	chr20	37617501	37617501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggtgcagtgctgggccacGaggtgggctactgcatccgc	18	11	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:37617501G>A	uc002xjh.2	+	5	402	c.391G>A	c.(391-393)GAG>AAG	p.E131K	DHX35_uc010zwa.1_5'UTR|DHX35_uc010zwb.1_5'UTR|DHX35_uc010zwc.1_Missense_Mutation_p.E100K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	131	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GCTGGGCCACGAGGTGGGCTA	0.498													A	37617501	G	A	37617501	3	1	279	1	0	0	0	0	1	0	0	0	4508	1059	37	1	409	1	DHX35	20	37617501	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	152695	37617501	25408019	994	143987											
MAFB	9935	broad.mit.edu	37	chr20	39317379	39317379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccggacgctccgcgcGccccagtggctccttcttca	10	20	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:39317379G>A	uc002xji.2	-	1	498	c.112C>T	c.(112-114)CGC>TGC	p.R38C		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	38					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CGCTCCGCGCGCCCCAGTGGC	0.682			T	IGH@	MM								A	39317379	G	A	39317379	3	1	279	1	0	0	0	0	1	0	0	0	9158	1087	38	1	863	1	MAFB	20	39317379	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1699878	39317379	23708141	995	143988											
PLCG1	5335	broad.mit.edu	37	chr20	39791907	39791907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagttccttcttgacTaccagggggtatggctgggc	13	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:39791907T>C	uc002xjp.1	+	8	902	c.781T>C	c.(781-783)TAC>CAC	p.Y261H	PLCG1_uc002xjo.1_Missense_Mutation_p.Y261H|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	261					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			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CCTTCTTGACTACCAGGGGGT	0.612													C	39791907	T	C	39791907	3	2	279	1	0	0	0	0	1	0	0	0	12035	1522	53	3	811	3	PLCG1	20	39791907	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	474528	39791907	23233613	996	143989											
PTPRT	11122	broad.mit.edu	37	chr20	40714411	40714411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atattctgtggatgatgtccTcgtcgatgtctgcggagacg	13	8	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:40714411T>G	uc002xkg.2	-	28	4113	c.3929A>C	c.(3928-3930)GAG>GCG	p.E1310A	PTPRT_uc010ggj.2_Missense_Mutation_p.E1329A|PTPRT_uc010ggi.2_Missense_Mutation_p.E513A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1310	Cytoplasmic (Potential).|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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATGATGTCCTCGTCGATGTC	0.562													G	40714411	T	G	40714411	3	3	279	1	0	0	0	0	1	0	0	0	12812	1551	54	5	412	5	PTPRT	20	40714411	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	922504	40714411	22311109	997	143990											
TOX2	84969	broad.mit.edu	37	chr20	42683112	42683112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgccactttcggtgaCgtgtccaaaatcgtggcctc	10	14	0	1	rs138861548		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:42683112C>T	uc002xlf.3	+	5	869	c.852C>T	c.(850-852)GAC>GAT	p.D284D	TOX2_uc010ggo.2_Silent_p.D275D|TOX2_uc002xle.3_Silent_p.D233D|TOX2_uc010ggp.2_Silent_p.D233D|TOX2_uc002xlg.2_Silent_p.D233D|TOX2_uc010zwk.1_Silent_p.D153D	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	284	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTTTCGGTGACGTGTCCAAAA	0.592													T	42683112	C	T	42683112	2	4	279	1	0	0	0	0	0	0	0	1	16375	535	19	1		1	TOX2	20	42683112	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1968701	42683112	20342408	998	143991											
KCNS1	3787	broad.mit.edu	37	chr20	43726361	43726361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgccaacttgagtacgCggaagatgcgcatgaggcgg	17	10	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:43726361C>T	uc002xnc.2	-	4	1449	c.1052G>A	c.(1051-1053)CGC>CAC	p.R351H	KCNS1_uc002xnd.2_Missense_Mutation_p.R351H	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	351	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CTTGAGTACGCGGAAGATGCG	0.682													T	43726361	C	T	43726361	3	4	279	1	0	0	0	0	1	0	0	0	8088	768	27	1	536	1	KCNS1	20	43726361	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1043249	43726361	19299159	999	143992											
WFDC6	140870	broad.mit.edu	37	chr20	44167994	44167994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccaggttcctggatgTcccccaaaaggatgaatggt	12	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:44167994T>C	uc002xos.1	-	1	141	c.53A>G	c.(52-54)GAC>GGC	p.D18G	SPINLW1_uc010zxc.1_Intron	NM_080827	NP_543017	Q9BQY6	WFDC6_HUMAN	WAP four-disulfide core domain 6 precursor	18						extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				TTCCTGGATGTCCCCCAAAAG	0.512													C	44167994	T	C	44167994	3	2	279	1	0	0	0	0	1	0	0	0	17352	1667	58	3	219	3	WFDC6	20	44167994	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	441633	44167994	18857526	1000	143993											
ZNF335	63925	broad.mit.edu	37	chr20	44586250	44586250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgccccccagttccCgctgagcactcatgttcagc	11	16	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:44586250C>T	uc002xqw.2	-	17	2540	c.2417G>A	c.(2416-2418)CGG>CAG	p.R806Q	ZNF335_uc002xqv.2_5'Flank|ZNF335_uc010zxk.1_Missense_Mutation_p.R651Q	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CCCCAGTTCCCGCTGAGCACT	0.488													T	44586250	C	T	44586250	3	4	279	1	0	0	0	0	1	0	0	0	17849	652	23	1	1659	1	ZNF335	20	44586250	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	418256	44586250	18439270	1001	143994											
PREX1	57580	broad.mit.edu	37	chr20	47317421	47317421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgtctgtgaggttggAaccctggaagcgcaatgagg	16	7	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:47317421A>G	uc002xtw.1	-	7	810	c.787T>C	c.(787-789)TCC>CCC	p.S263P		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	263					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			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGAGGTTGGAACCCTGGAAG	0.532													G	47317421	A	G	47317421	3	3	279	1	0	0	0	0	1	0	0	0	12476	246	9	3	4328	3	PREX1	20	47317421	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2731171	47317421	15708099	1002	143995											
ATP9A	10079	broad.mit.edu	37	chr20	50273655	50273655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggaccttagtggtgagcGttgggcccttctgagccggt	16	11	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:50273655G>A	uc002xwg.1	-	14	1328	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	ATP9A_uc010gih.1_Missense_Mutation_p.T307M|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	443	Cytoplasmic (Potential).				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			ovary(4)	4						AGTGGTGAGCGTTGGGCCCTT	0.577													A	50273655	G	A	50273655	3	1	279	1	0	0	0	0	1	0	0	0	1198	1145	40	1	1875	1	ATP9A	20	50273655	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2956234	50273655	12751865	1003	143996											
SALL4	57167	broad.mit.edu	37	chr20	50406893	50406893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatgctgggaagaggcGtggggaccttggaggagctg	21	5	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:50406893G>A	uc002xwh.3	-	2	2230	c.2129C>T	c.(2128-2130)ACG>ATG	p.T710M	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	710					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGGAAGAGGCGTGGGGACCTT	0.587													A	50406893	G	A	50406893	3	1	279	1	0	0	0	0	1	0	0	0	13813	1145	40	1	1044	1	SALL4	20	50406893	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	133238	50406893	12618627	1004	143997											
BCAS1	8537	broad.mit.edu	37	chr20	52645067	52645067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtccagcttgaagaatTtgtcaaaaaagctggagtcc	9	9	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:52645067T>C	uc002xws.2	-	4	925	c.587A>G	c.(586-588)AAA>AGA	p.K196R	BCAS1_uc010zzb.1_Missense_Mutation_p.K99R|BCAS1_uc010gim.2_Missense_Mutation_p.K99R|BCAS1_uc002xwt.2_Missense_Mutation_p.K196R|BCAS1_uc010gil.1_Missense_Mutation_p.K196R|BCAS1_uc010zzc.1_Missense_Mutation_p.K99R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	196						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	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)			CTTGAAGAATTTGTCAAAAAA	0.572													C	52645067	T	C	52645067	3	2	279	1	0	0	0	0	1	0	0	0	1350	1841	64	3	1203	3	BCAS1	20	52645067	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2238174	52645067	10380453	1005	143998											
CDH4	1002	broad.mit.edu	37	chr20	60498761	60498761	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatgcagcaggctgtgAggtgggtgcacaggacatgc	17	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:60498761A>C	uc002ybn.1	+	10	1641	c.1627A>C	c.(1627-1629)AGA>CGA	p.R543R	CDH4_uc002ybp.1_Silent_p.R469R	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	543	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGGCTGTGAGGTGGGTGCA	0.607													C	60498761	A	C	60498761	2	2	279	1	0	0	0	0	0	0	0	1	3112	318	11	5		5	CDH4	20	60498761	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	7853694	60498761	2526759	1006	143999											
LSM14B	149986	broad.mit.edu	37	chr20	60704949	60704949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagctgttacctggcaaggGcaccacagggacgcagctca	12	12	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:60704949G>A	uc010gjy.1	+	4	742	c.536G>A	c.(535-537)GGC>GAC	p.G179D	LSM14B_uc010gjx.1_Missense_Mutation_p.G205D|LSM14B_uc002ybv.2_Missense_Mutation_p.G179D|LSM14B_uc010gjz.1_Missense_Mutation_p.G135D|LSM14B_uc010zzz.1_Missense_Mutation_p.G99D	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	179					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCTGGCAAGGGCACCACAGGG	0.557													A	60704949	G	A	60704949	3	1	279	1	0	0	0	0	1	0	0	0	9055	1203	42	2	550	2	LSM14B	20	60704949	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	206188	60704949	2320571	1007	144000											
DIDO1	11083	broad.mit.edu	37	chr20	61511147	61511147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggggccctgtccgggcGcactggaggagagcgcggag	19	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:61511147G>A	uc002ydr.1	-	16	6425	c.6161C>T	c.(6160-6162)GCG>GTG	p.A2054V	DIDO1_uc002yds.1_Missense_Mutation_p.A2054V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2054					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTGTCCGGGCGCACTGGAGGA	0.716													A	61511147	G	A	61511147	3	1	279	1	0	0	0	0	1	0	0	0	4522	1087	38	1	565	1	DIDO1	20	61511147	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	806198	61511147	1514373	1008	144001											
YTHDF1	54915	broad.mit.edu	37	chr20	61833843	61833843	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagctggttattgggtacAtccttaacaaaaatccactg	9	9	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:61833843A>G	uc002yeh.2	-	4	1743	c.1449T>C	c.(1447-1449)GAT>GAC	p.D483D	YTHDF1_uc011aaq.1_Silent_p.D433D	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	483	YTH.									ovary(2)	2						TATTGGGTACATCCTTAACAA	0.542													G	61833843	A	G	61833843	2	3	279	1	0	0	0	0	0	0	0	1	17495	214	8	3		3	YTHDF1	20	61833843	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	322696	61833843	1191677	1009	144002											
C20orf195	79025	broad.mit.edu	37	chr20	62187213	62187213	+	Frame_Shift_Del	DEL	C	C	-													cctgctcaagcgccaccacgCccgcatgcagctgctgcgta							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:62187213delC	uc002yfj.2	+	2	289	c.197delC	c.(196-198)GCCfs	p.A66fs	C20orf195_uc002yfk.2_Frame_Shift_Del_p.A66fs	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	66											0	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)			CGCCACCACGCCCGCATGCAG	0.652													-	62187213	C	-	62187213	7	5	279	1	0	1	0	1	0	0	0	0	2100	739	26	0	199	0	C20orf195	20	62187213	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	353370	62187213	838307	1010	144003											
OPRL1	4987	broad.mit.edu	37	chr20	62729906	62729906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggcccaagggctgggGgttcagccgagcagcgagac	18	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr20:62729906G>A	uc002yic.2	+	5	1269	c.867G>A	c.(865-867)GGG>GGA	p.G289G	OPRL1_uc002yid.2_Silent_p.G289G|OPRL1_uc002yif.3_Silent_p.G284G	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	289	Extracellular (Potential).				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)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AAGGGCTGGGGGTTCAGCCGA	0.657													A	62729906	G	A	62729906	2	1	279	1	0	0	0	0	0	0	0	1	10886	1219	43	4		4	OPRL1	20	62729906	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	542693	62729906	295614	1011	144004											
NRIP1	8204	broad.mit.edu	37	chr21	16339973	16339973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttttaagtgacttgatgCaacaccatagcaccttaaat	6	8	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:16339973C>T	uc002yjx.2	-	4	1139	c.541G>A	c.(541-543)GCA>ACA	p.A181T		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	181	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				0				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)		TGACTTGATGCAACACCATAG	0.388													T	16339973	C	T	16339973	3	4	279	1	0	0	0	0	1	0	0	0	10652	710	25	2	2939	2	NRIP1	21	16339973	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08		16339973	31789922	1012	144005											
USP25	29761	broad.mit.edu	37	chr21	17205809	17205809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttgcccagaaagctttGcaggaaaagcttttagcgtc	9	10	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:17205809G>A	uc002yjy.1	+	17	2353	c.2136G>A	c.(2134-2136)TTG>TTA	p.L712L	USP25_uc011aby.1_Silent_p.L712L|USP25_uc002yjz.1_Silent_p.L712L|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	712	Potential.				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				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)		AGAAAGCTTTGCAGGAAAAGC	0.368													A	17205809	G	A	17205809	2	1	279	1	0	0	0	0	0	0	0	1	17053	1310	46	2		2	USP25	21	17205809	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	865836	17205809	30924086	1013	144006											
ADAMTS1	9510	broad.mit.edu	37	chr21	28214913	28214913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgctttagaccactgccGtggaattctgccatcgactg	9	11	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:28214913G>A	uc002ymf.2	-	2	1277	c.822C>T	c.(820-822)CAC>CAT	p.H274H		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	274	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GACCACTGCCGTGGAATTCTG	0.483													A	28214913	G	A	28214913	2	1	279	1	0	0	0	0	0	0	0	1	255	1136	40	1		1	ADAMTS1	21	28214913	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	11009104	28214913	19914982	1014	144007											
HUNK	30811	broad.mit.edu	37	chr21	33370854	33370854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagattcctttggctgccGcaatattttccgcaaaacct	7	12	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:33370854G>A	uc002yph.2	+	11	1862	c.1502G>A	c.(1501-1503)CGC>CAC	p.R501H		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	501					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						TTTGGCTGCCGCAATATTTTC	0.527													A	33370854	G	A	33370854	3	1	279	1	0	0	0	0	1	0	0	0	7458	1087	38	1	1544	1	HUNK	21	33370854	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5155941	33370854	14759041	1015	144008											
CRYZL1	9946	broad.mit.edu	37	chr21	34997046	34997046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtttcacaaagttatcCtctgtaacaggaagatcttc	7	8	3	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:34997046C>T	uc011adw.1	-	3	267	c.87G>A	c.(85-87)GAG>GAA	p.E29E	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Silent_p.E53E|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Silent_p.E29E	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	29					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						CAAAGTTATCCTCTGTAACAG	0.308													T	34997046	C	T	34997046	2	4	279	1	0	0	0	0	0	0	0	1	3923	680	24	4		4	CRYZL1	21	34997046	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1626192	34997046	13132849	1016	144009											
ABCG1	9619	broad.mit.edu	37	chr21	43691237	43691237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagtggtgagttggtggCcattatgggtccttccgggg	16	7	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:43691237C>T	uc002zaq.2	+	3	450	c.344C>T	c.(343-345)GCC>GTC	p.A115V	ABCG1_uc002zan.2_Missense_Mutation_p.A117V|ABCG1_uc002zam.2_Missense_Mutation_p.A93V|ABCG1_uc002zao.2_Missense_Mutation_p.A112V|ABCG1_uc002zap.2_Missense_Mutation_p.A115V|ABCG1_uc002zar.2_Missense_Mutation_p.A126V|ABCG1_uc011aev.1_Missense_Mutation_p.A126V	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	115	Cytoplasmic (Potential).|ABC transporter.				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			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GAGTTGGTGGCCATTATGGGT	0.502													T	43691237	C	T	43691237	3	4	279	1	0	0	0	0	1	0	0	0	68	739	26	2	522	2	ABCG1	21	43691237	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8694191	43691237	4438658	1017	144010											
CBS	875	broad.mit.edu	37	chr21	44492285	44492285	+	Frame_Shift_Del	DEL	G	G	-													tgtgggccccacttctgcctGgggggtctcagaaggcatgc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:44492285delG	uc002zcu.2	-	3	264	c.19delC	c.(19-21)CAGfs	p.Q7fs	CBS_uc002zct.2_Frame_Shift_Del_p.Q7fs|CBS_uc002zcw.3_Frame_Shift_Del_p.Q7fs|CBS_uc002zcv.2_Frame_Shift_Del_p.Q7fs	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	7					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTTCTGCCTGGGGGGTCTCA	0.662													-	44492285	G	-	44492285	7	5	279	1	0	1	0	1	0	0	0	0	2711	1357	47	0	1696	0	CBS	21	44492285	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	801048	44492285	3637610	1018	144011											
POFUT2	23275	broad.mit.edu	37	chr21	46705687	46705687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatccggacctggtggatGtcaggactctgccagtgata	14	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:46705687G>A	uc002zhc.2	-	2	313	c.288C>T	c.(286-288)GAC>GAT	p.D96D	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.D96D|POFUT2_uc011afp.1_Silent_p.D96D|POFUT2_uc011afq.1_Silent_p.D96D|LOC642852_uc002zhf.2_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	96					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		CCTGGTGGATGTCAGGACTCT	0.532													A	46705687	G	A	46705687	2	1	279	1	0	0	0	0	0	0	0	1	12184	1368	48	4		4	POFUT2	21	46705687	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2213402	46705687	1424208	1019	144012											
COL6A1	1291	broad.mit.edu	37	chr21	47419132	47419132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggggtcccgagggcccccaGgtgggtggatgtggctgggt	21	10	0	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:47419132G>T	uc002zhu.1	+	26	1842	c.1740G>T	c.(1738-1740)CAG>CAT	p.Q580H	COL6A1_uc010gqd.1_Translation_Start_Site|COL6A1_uc002zhv.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	580	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGCCCCCAGGTGGGTGGAT	0.652													T	47419132	G	T	47419132	3	4	279	1	0	0	0	0	1	0	0	0	3699	1014	35	5	1842	5	COL6A1	21	47419132	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	713445	47419132	710763	1020	144013											
PRMT2	3275	broad.mit.edu	37	chr21	48078788	48078788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggattatcgtagcaaggtGctcttctgggacaacgcgta	12	8	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr21:48078788G>A	uc002zjx.2	+	8	1100	c.786G>A	c.(784-786)GTG>GTA	p.V262V	PRMT2_uc002zjw.2_Silent_p.V262V|PRMT2_uc002zjy.2_Silent_p.V262V|PRMT2_uc010gqm.2_Intron|PRMT2_uc011aga.1_Intron|PRMT2_uc011agb.1_Silent_p.V262V|PRMT2_uc011agc.1_Intron|PRMT2_uc002zjz.1_Silent_p.V148V	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	262	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			ovary(1)	1	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)		GTAGCAAGGTGCTCTTCTGGG	0.592													A	48078788	G	A	48078788	2	1	279	1	0	0	0	0	0	0	0	1	12537	1306	46	2		2	PRMT2	21	48078788	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	659656	48078788	51107	1021	144014											
DGCR8	54487	broad.mit.edu	37	chr22	20094884	20094884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgggggtctttactgcGcatgtatggccgtgagagca	15	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:20094884G>A	uc002zri.2	+	12	2437	c.2087G>A	c.(2086-2088)CGC>CAC	p.R696H	DGCR8_uc010grz.2_Missense_Mutation_p.R663H|DGCR8_uc002zrj.2_Missense_Mutation_p.R339H	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	696	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TCTTTACTGCGCATGTATGGC	0.547													A	20094884	G	A	20094884	3	1	279	1	0	0	0	0	1	0	0	0	4464	1087	38	1	2129	1	DGCR8	22	20094884	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08		20094884	31209682	1022	144015											
ZDHHC8	29801	broad.mit.edu	37	chr22	20131022	20131022	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcgcccgcaaccctgcCctgcagacgtcactgtcctc	11	18	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:20131022C>A	uc002zrq.2	+	10	1975	c.1869C>A	c.(1867-1869)GCC>GCA	p.A623A	ZDHHC8_uc002zrr.1_Silent_p.A623A|ZDHHC8_uc010gsa.2_Silent_p.A429A	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	623	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GCAACCCTGCCCTGCAGACGT	0.711													A	20131022	C	A	20131022	2	1	279	1	0	0	0	0	0	0	0	1	17618	610	22	5		5	ZDHHC8	22	20131022	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	36138	20131022	31173544	1023	144016											
GNAZ	2781	broad.mit.edu	37	chr22	23438488	23438488	+	Frame_Shift_Del	DEL	G	G	-													accttcaagatggtggacgtGggggggcagaggtcagagcg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:23438488delG	uc002zwu.1	+	2	1143	c.606delG	c.(604-606)GTGfs	p.V202fs	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	202	GTP (By similarity).					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			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGGTGGACGTGGGGGGGCAGA	0.577													-	23438488	G	-	23438488	7	5	279	1	0	1	0	1	0	0	0	0	6514	1335	47	0	608	0	GNAZ	22	23438488	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	3307466	23438488	27866078	1024	144017											
SMARCB1	6598	broad.mit.edu	37	chr22	24175857	24175859	+	In_Frame_Del	DEL	AGA	AGA	-													tctgacagacgctgagatggAgaagaagatccgcgaccagg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:24175856_24175858GAGA>G	uc002zyd.3	+	7	1318_1320	c.1111_1113GAGA>G	c.(1111-1113)gag>G	p.E371del	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_In_Frame_Del_p.E362del|SMARCB1_uc002zyc.3_In_Frame_Del_p.E353del	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	362					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.N371S(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGCTGAGATGGAGAAGAAGATCC	0.631			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							-	24175859	AGA	-	24175857	7	5	279	1	0	1	0	1	0	0	0	0	14774	304	11	0	1115	0	SMARCB1	22	24175857	In_Frame_Del	DEL	AGA	TCGA-HU-A4H3-01A-21D-A25D-08	737369	24175857	27128709	1025	144018											
SUSD2	56241	broad.mit.edu	37	chr22	24584203	24584203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaccaggacgcagctaCgcggtgctgttgggcatcat	12	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:24584203C>T	uc002zzn.1	+	14	2396	c.2352C>T	c.(2350-2352)TAC>TAT	p.Y784Y		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	784	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GACGCAGCTACGCGGTGCTGT	0.652													T	24584203	C	T	24584203	2	4	279	1	0	0	0	0	0	0	0	1	15405	547	19	1		1	SUSD2	22	24584203	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	408346	24584203	26720363	1026	144019											
MYO18B	84700	broad.mit.edu	37	chr22	26193919	26193919	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctctccctttgcccgcaGcctgaagataaacagaaggc	8	15	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:26193919G>T	uc003abz.1	+	12	2627	c.2377_splice	c.e12-1	p.P793_splice	MYO18B_uc003aca.1_Splice_Site_p.P674_splice|MYO18B_uc010guy.1_Splice_Site_p.P674_splice|MYO18B_uc010guz.1_Splice_Site_p.P674_splice|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Splice_Site_p.P306_splice	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB							nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TTTGCCCGCAGCCTGAAGATA	0.582													T	26193919	G	T	26193919	5	4	279	1	0	0	0	0	0	0	1	0	10066	985	34	5	2418	5	MYO18B	22	26193919	Splice_Site	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1609716	26193919	25110647	1027	144020											
MTMR3	8897	broad.mit.edu	37	chr22	30403965	30403965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttgatcttggatgcacGctcctatgcagctgctgtgg	12	10	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:30403965G>A	uc003agv.3	+	11	1281	c.953G>A	c.(952-954)CGC>CAC	p.R318H	MTMR3_uc003agu.3_Missense_Mutation_p.R318H|MTMR3_uc003agw.3_Missense_Mutation_p.R318H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	318	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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTGGATGCACGCTCCTATGCA	0.522													A	30403965	G	A	30403965	3	1	279	1	0	0	0	0	1	0	0	0	9945	1087	38	1	987	1	MTMR3	22	30403965	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	4210046	30403965	20900601	1028	144021											
LIF	3976	broad.mit.edu	37	chr22	30640813	30640815	+	In_Frame_Del	DEL	GTT	GTT	-													ctcctgatctggttcatgagGttgttgtgacatgggtggcg							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:30640813_30640815delGTT	uc003agz.2	-	2	239_241	c.127_129delAAC	c.(127-129)AACdel	p.N43del	LIF_uc011aks.1_Intron|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	43					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)			GGTTCATGAGGTTGTTGTGACAT	0.562													-	30640815	GTT	-	30640813	7	5	279	1	0	1	0	1	0	0	0	0	8779	1252	44	0	487	0	LIF	22	30640813	In_Frame_Del	DEL	GTT	TCGA-HU-A4H3-01A-21D-A25D-08	236848	30640813	20663753	1029	144022											
TRIOBP	11078	broad.mit.edu	37	chr22	38131430	38131430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggagcactgcgaagggccCcagcttgccagagctgcagg	15	13	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:38131430C>A	uc003atr.2	+	9	5358	c.5087C>A	c.(5086-5088)CCC>CAC	p.P1696H	TRIOBP_uc003atu.2_Missense_Mutation_p.P1524H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1696					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)	1	Melanoma(58;0.0574)					GCGAAGGGCCCCAGCTTGCCA	0.617											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	38131430	C	A	38131430	3	1	279	1	0	0	0	0	1	0	0	0	16550	623	22	5	5113	5	TRIOBP	22	38131430	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	7490617	38131430	13173136	1030	144023											
SLC16A8	23539	broad.mit.edu	37	chr22	38476959	38476959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcacctcgaactgcagCgcgcccaccatgccgtagga	11	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:38476959C>T	uc003auu.2	-	4	1216	c.1086G>A	c.(1084-1086)GCG>GCA	p.A362A		NM_013356	NP_037488	O95907	MOT3_HUMAN	solute carrier family 16, member 8	362	Helical; (Potential).				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity				0	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CGAACTGCAGCGCGCCCACCA	0.711													T	38476959	C	T	38476959	2	4	279	1	0	0	0	0	0	0	0	1	14414	755	27	1		1	SLC16A8	22	38476959	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	345529	38476959	12827607	1031	144024											
TMEM184B	25829	broad.mit.edu	37	chr22	38621509	38621509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggggctgagcagctcccGggtggcgaagtagaagagga	19	7	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:38621509G>A	uc003avf.1	-	7	933	c.709C>T	c.(709-711)CGG>TGG	p.R237W	TMEM184B_uc003avg.1_Missense_Mutation_p.R237W|TMEM184B_uc003avh.1_Missense_Mutation_p.R171W|TMEM184B_uc010gxl.1_RNA	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	237						integral to membrane					0	Melanoma(58;0.045)					AGCAGCTCCCGGGTGGCGAAG	0.592													A	38621509	G	A	38621509	3	1	279	1	0	0	0	0	1	0	0	0	16102	1115	39	1	526	1	TMEM184B	22	38621509	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	144550	38621509	12683057	1032	144025											
SCUBE1	80274	broad.mit.edu	37	chr22	43610096	43610096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttctaggcccgcacttgcCtccacattccgacacgttgc	7	18	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:43610096C>A	uc003bdt.1	-	16	2141	c.2053G>T	c.(2053-2055)GGC>TGC	p.G685C		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	685					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			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CCGCACTTGCCTCCACATTCC	0.657													A	43610096	C	A	43610096	3	1	279	1	0	0	0	0	1	0	0	0	13944	695	24	5	941	5	SCUBE1	22	43610096	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4988587	43610096	7694470	1033	144026											
WNT7B	7477	broad.mit.edu	37	chr22	46345856	46345856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagggcagagcagttccagCgtccgaagcggaactggtac	15	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:46345856C>T	uc003bgo.2	-	2	616	c.242G>A	c.(241-243)CGC>CAC	p.R81H	WNT7B_uc010haa.2_Missense_Mutation_p.R85H	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	81					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGTTCCAGCGTCCGAAGCG	0.637													T	46345856	C	T	46345856	3	4	279	1	0	0	0	0	1	0	0	0	17392	768	27	1	819	1	WNT7B	22	46345856	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2735760	46345856	4958710	1034	144027											
ALG12	79087	broad.mit.edu	37	chr22	50297834	50297834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggatcctacctccaggCgctgttgacttggagaaacc	12	11	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chr22:50297834C>T	uc003biy.2	-	9	1505	c.1231G>A	c.(1231-1233)GCC>ACC	p.A411T		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	411					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					0		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)		TACCTCCAGGCGCTGTTGACT	0.657													T	50297834	C	T	50297834	3	4	279	1	0	0	0	0	1	0	0	0	514	768	27	1	243	1	ALG12	22	50297834	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3951978	50297834	1006732	1035	144028											
GYG2	8908	broad.mit.edu	37	chrX	2795326	2795326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggctctcagggaccCcagtctgcaggatgcactgg	14	12	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:2795326C>T	uc004cqs.1	+	11	1604	c.1322C>T	c.(1321-1323)CCC>CTC	p.P441L	GYG2_uc004cqt.1_Missense_Mutation_p.P410L|GYG2_uc004cqu.1_Missense_Mutation_p.P409L|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Missense_Mutation_p.P401L|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	441					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		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)				CTCAGGGACCCCAGTCTGCAG	0.547													T	2795326	C	T	2795326	3	4	279	1	0	0	0	0	1	0	0	0	6906	623	22	4	1360	4	GYG2	23	2795326	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08		2795326	152475234	1036	144029											
NLGN4X	57502	broad.mit.edu	37	chrX	5821694	5821694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtcgccgtcgatcaccGgcccgaaggctatgtggtag	14	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:5821694G>A	uc010ndh.2	-	5	1526	c.1025C>T	c.(1024-1026)CCG>CTG	p.P342L	NLGN4X_uc004crp.2_Missense_Mutation_p.P362L|NLGN4X_uc004crq.2_Missense_Mutation_p.P342L|NLGN4X_uc010ndi.2_Missense_Mutation_p.P379L|NLGN4X_uc004crr.2_Missense_Mutation_p.P342L|NLGN4X_uc010ndj.2_Missense_Mutation_p.P342L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	342	Extracellular (Potential).				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			skin(2)|large_intestine(1)|ovary(1)	4						GTCGATCACCGGCCCGAAGGC	0.587													A	5821694	G	A	5821694	3	1	279	1	0	0	0	0	1	0	0	0	10464	1116	39	1	1433	1	NLGN4X	23	5821694	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3026368	5821694	149448866	1037	144030											
TBL1X	6907	broad.mit.edu	37	chrX	9661211	9661211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggaacactcttggctaCgggttcatatgacggttttg	11	8	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:9661211C>T	uc010ndq.2	+	10	1282	c.914C>T	c.(913-915)ACG>ATG	p.T305M	TBL1X_uc004csq.3_Missense_Mutation_p.T254M|TBL1X_uc010ndr.2_Missense_Mutation_p.T254M|TBL1X_uc004csr.2_Missense_Mutation_p.T305M|TBL1X_uc004css.2_Missense_Mutation_p.T256M	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	305	WD 2.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				CTCTTGGCTACGGGTTCATAT	0.532													T	9661211	C	T	9661211	3	4	279	1	0	0	0	0	1	0	0	0	15636	536	19	1	940	1	TBL1X	23	9661211	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3839517	9661211	145609349	1038	144031											
SHROOM2	357	broad.mit.edu	37	chrX	9864116	9864116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggatgggggatccagacaCtgtcccccacttctgggagg	14	13	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:9864116C>A	uc004csu.1	+	4	2258	c.2168C>A	c.(2167-2169)ACT>AAT	p.T723N		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	723	ASD1.				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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GATCCAGACACTGTCCCCCAC	0.672													A	9864116	C	A	9864116	3	1	279	1	0	0	0	0	1	0	0	0	14294	565	20	5	2182	5	SHROOM2	23	9864116	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	202905	9864116	145406444	1039	144032											
ATXN3L	92552	broad.mit.edu	37	chrX	13337235	13337235	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcggctgttctgaagcaggAgttacacatgatgtctttgg	12	7	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:13337235A>C	uc010ned.2	-	1	1284	c.819T>G	c.(817-819)ACT>ACG	p.T273T		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	273					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						CTGAAGCAGGAGTTACACATG	0.438													C	13337235	A	C	13337235	2	2	279	1	0	0	0	0	0	0	0	1	1214	291	11	5		5	ATXN3L	23	13337235	Silent	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	3473119	13337235	141933325	1040	144033											
GPR64	10149	broad.mit.edu	37	chrX	19028750	19028750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgagccagaggggccaGcatgtcaggcggggaatgaa	16	9	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:19028750G>A	uc004cyx.2	-	17	1410	c.1246C>T	c.(1246-1248)CTG>TTG	p.L416L	GPR64_uc004cyy.2_Silent_p.L413L|GPR64_uc004cyz.2_Silent_p.L402L|GPR64_uc004czb.2_Silent_p.L416L|GPR64_uc004czc.2_Silent_p.L400L|GPR64_uc004czd.2_Silent_p.L392L|GPR64_uc004cze.2_Silent_p.L386L|GPR64_uc004czf.2_Silent_p.L378L|GPR64_uc004cza.2_Silent_p.L394L|GPR64_uc004cyw.2_Silent_p.L400L|GPR64_uc010nfj.2_Silent_p.L386L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	416	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					AGAGGGGCCAGCATGTCAGGC	0.522													A	19028750	G	A	19028750	2	1	279	1	0	0	0	0	0	0	0	1	6705	962	34	2		2	GPR64	23	19028750	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5691515	19028750	136241810	1041	144034											
MAP3K15	389840	broad.mit.edu	37	chrX	19391783	19391783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgggctctccctgtgtgGgcagggccaggacgacaccg	15	14	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:19391783G>T	uc004czk.1	-	22	2866	c.1229C>A	c.(1228-1230)CCC>CAC	p.P410H	MAP3K15_uc004czj.1_Missense_Mutation_p.P370H|MAP3K15_uc004czi.1_5'Flank	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	935							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					TCCCTGTGTGGGCAGGGCCAG	0.677													T	19391783	G	T	19391783	3	4	279	1	0	0	0	0	1	0	0	0	9249	1232	43	5	1173	5	MAP3K15	23	19391783	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	363033	19391783	135878777	1042	144035											
YY2	404281	broad.mit.edu	37	chrX	21875411	21875411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttccgggattacgccgCcatgagaaaacatctccaca	9	12	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:21875411C>T	uc011mjp.1	+	1	809	c.809C>T	c.(808-810)GCC>GTC	p.A270V	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.A488V|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	270	Mediates transcriptional repression.|C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GATTACGCCGCCATGAGAAAA	0.498													T	21875411	C	T	21875411	3	4	279	1	0	0	0	0	1	0	0	0	17506	739	26	2	811	2	YY2	23	21875411	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2483628	21875411	133395149	1043	144036											
PHEX	5251	broad.mit.edu	37	chrX	22095708	22095708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtttggtcagagagaaAgttcagccttctgcagacac	13	8	3	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:22095708A>G	uc004dah.2	+	5	754	c.551A>G	c.(550-552)AAG>AGG	p.K184R	PHEX_uc011mjr.1_Missense_Mutation_p.K184R|PHEX_uc011mjs.1_Missense_Mutation_p.K87R	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	184	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TCAGAGAGAAAGTTCAGCCTT	0.488													G	22095708	A	G	22095708	3	3	279	1	0	0	0	0	1	0	0	0	11819	72	3	3	569	3	PHEX	23	22095708	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	220297	22095708	133174852	1044	144037											
ZFX	7543	broad.mit.edu	37	chrX	24228545	24228545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagaaggccattgaatgCgatgagtgtgggaagcattt	15	5	0	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:24228545C>T	uc004dbf.2	+	9	1728	c.1470C>T	c.(1468-1470)TGC>TGT	p.C490C	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.C529C|ZFX_uc010nfz.2_Silent_p.C146C	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	490	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						CCATTGAATGCGATGAGTGTG	0.443													T	24228545	C	T	24228545	2	4	279	1	0	0	0	0	0	0	0	1	17658	776	27	1		1	ZFX	23	24228545	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2132837	24228545	131042015	1045	144038											
PDK3	5165	broad.mit.edu	37	chrX	24523371	24523371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttcatcctaaacacaTaggaagtatcgatcccacct	5	13	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:24523371T>C	uc004dbg.2	+	5	780	c.551T>C	c.(550-552)ATA>ACA	p.I184T	PDK3_uc004dbh.2_Missense_Mutation_p.I184T	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 2	184	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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CCTAAACACATAGGAAGTATC	0.453													C	24523371	T	C	24523371	3	2	279	1	0	0	0	0	1	0	0	0	11677	1406	49	3	569	3	PDK3	23	24523371	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	294826	24523371	130747189	1046	144039											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29959766	29959766	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgtggttttttctttctAgagctaatgtacacagtgga	9	6	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:29959766A>C	uc004dby.2	+	9	1566	c.1058_splice	c.e9-2	p.E353_splice		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 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			ovary(3)|lung(1)|pancreas(1)	5						TTTTCTTTCTAGAGCTAATGT	0.363													C	29959766	A	C	29959766	5	2	279	1	0	0	0	0	0	0	1	0	7661	434	15	5	1086	5	IL1RAPL1	23	29959766	Splice_Site	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	5436395	29959766	125310794	1047	144040											
MAGEB3	4114	broad.mit.edu	37	chrX	30254059	30254059	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcatgcctcggggtcagaaGagtacgctccatgcacgtga	12	11	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:30254059G>T	uc004dca.1	+	5	755	c.18G>T	c.(16-18)AAG>AAT	p.K6N		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	6											0						GGGGTCAGAAGAGTACGCTCC	0.547													T	30254059	G	T	30254059	3	4	279	1	0	0	0	0	1	0	0	0	9177	933	33	5	20	5	MAGEB3	23	30254059	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	294293	30254059	125016501	1048	144041											
DMD	1756	broad.mit.edu	37	chrX	32717315	32717315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaacatttccacttcctGgatggcttcaatgctcactt	7	12	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:32717315G>T	uc004dda.1	-	8	989	c.745C>A	c.(745-747)CAG>AAG	p.Q249K	DMD_uc004dcz.2_Missense_Mutation_p.Q126K|DMD_uc004dcy.1_Missense_Mutation_p.Q245K|DMD_uc004ddb.1_Missense_Mutation_p.Q241K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.Q241K|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	249					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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TCCACTTCCTGGATGGCTTCA	0.388													T	32717315	G	T	32717315	3	4	279	1	0	0	0	0	1	0	0	0	4580	1357	47	5	10843	5	DMD	23	32717315	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2463256	32717315	122553245	1049	144042											
TMEM47	83604	broad.mit.edu	37	chrX	34675058	34675058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggtccagacacagcGccaggaagatgcacaccagc	10	17	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:34675058G>A	uc004ddh.2	-	1	348	c.89C>T	c.(88-90)GCG>GTG	p.A30V	TMEM47_uc010ngs.2_5'Flank	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	30	Helical; (Potential).					integral to membrane				lung(1)	1						CAGACACAGCGCCAGGAAGAT	0.682													A	34675058	G	A	34675058	3	1	279	1	0	0	0	0	1	0	0	0	16168	1087	38	1	468	1	TMEM47	23	34675058	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	1957743	34675058	120595502	1050	144043											
CXorf22	170063	broad.mit.edu	37	chrX	35969461	35969461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcatacaagatgatgcCgtgggagaagaattggtaag	13	6	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:35969461C>T	uc004ddj.2	+	5	929	c.870C>T	c.(868-870)GCC>GCT	p.A290A	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	290										large_intestine(1)|lung(1)|ovary(1)	3						AAGATGATGCCGTGGGAGAAG	0.368													T	35969461	C	T	35969461	2	4	279	1	0	0	0	0	0	0	0	1	4102	639	23	1		1	CXorf22	23	35969461	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1294403	35969461	119301099	1051	144044											
FAM47C	442444	broad.mit.edu	37	chrX	37028275	37028275	+	Frame_Shift_Del	DEL	C	C	-													tgtccagtctccccccggagCcccccgagactggagtgtcc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:37028275delC	uc004ddl.1	+	1	1806	c.1792delC	c.(1792-1794)CCCfs	p.P598fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	598										ovary(3)	3						CCCCCCGGAGCCCCCCGAGAC	0.647													-	37028275	C	-	37028275	7	5	279	1	0	1	0	1	0	0	0	0	5571	739	26	0	1794	0	FAM47C	23	37028275	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	1058814	37028275	118242285	1052	144045											
SYTL5	94122	broad.mit.edu	37	chrX	37955458	37955458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatactgtaagcataagaAgcaagtctgtccctggggct	12	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:37955458A>G	uc004ddu.2	+	10	1567	c.1033A>G	c.(1033-1035)AGC>GGC	p.S345G	SYTL5_uc004ddv.2_Missense_Mutation_p.S345G|SYTL5_uc004ddx.2_Missense_Mutation_p.S345G	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	345					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						AAGCATAAGAAGCAAGTCTGT	0.413													G	37955458	A	G	37955458	3	3	279	1	0	0	0	0	1	0	0	0	15483	72	3	3	1063	3	SYTL5	23	37955458	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	927183	37955458	117315102	1053	144046											
RPGR	6103	broad.mit.edu	37	chrX	38144935	38144935	+	Frame_Shift_Del	DEL	T	T	-													cctgtgtgttagtaactgacTttttttgatatgttttatgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:38144934_38144934CT>C	uc004ded.1	-	14	3486	c.3318_3318AG>G	c.(3316-3318)aagfs	p.K1106fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	888					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						TAGTAACTGACTTTTTTTGAT	0.388													-	38144935	T	-	38144935	7	5	279	1	0	1	0	1	0	0	0	0	13548	1609	56	0	704	0	RPGR	23	38144935	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	189477	38144935	117125625	1054	144047											
USP9X	8239	broad.mit.edu	37	chrX	41069787	41069787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgagcctgttaatctgCgtgaacaacacgatgcttta	12	8	1	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:41069787C>T	uc004dfb.2	+	33	5674	c.5041C>T	c.(5041-5043)CGT>TGT	p.R1681C	USP9X_uc004dfc.2_Missense_Mutation_p.R1681C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1681					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			lung(3)|breast(2)|ovary(1)	6						TGTTAATCTGCGTGAACAACA	0.338													T	41069787	C	T	41069787	3	4	279	1	0	0	0	0	1	0	0	0	17087	768	27	1	5167	1	USP9X	23	41069787	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2924852	41069787	114200773	1055	144048											
CXorf36	79742	broad.mit.edu	37	chrX	45013320	45013320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagctggtaggcaaggtCggctgcctgatctgggggtg	19	8	1	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:45013320C>T	uc004dgg.2	-	4	871	c.796G>A	c.(796-798)GAC>AAC	p.D266N		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	266						extracellular region				lung(1)	1						TAGGCAAGGTCGGCTGCCTGA	0.562													T	45013320	C	T	45013320	3	4	279	1	0	0	0	0	1	0	0	0	4106	884	31	1	513	1	CXorf36	23	45013320	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3943533	45013320	110257240	1056	144049											
ZNF157	7712	broad.mit.edu	37	chrX	47272096	47272096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcatacctcattgctcaTcagaaaactcacacagggga	7	11	5	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:47272096T>C	uc004dhr.1	+	4	693	c.624T>C	c.(622-624)CAT>CAC	p.H208H		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	208	C2H2-type 2.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCATTGCTCATCAGAAAACTC	0.433													C	47272096	T	C	47272096	2	2	279	1	0	0	0	0	0	0	0	1	17734	1432	50	3		3	ZNF157	23	47272096	Silent	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	2258776	47272096	107998464	1057	144050											
UXT	8409	broad.mit.edu	37	chrX	47516675	47516675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccagggccacatagatgCgtgaagtatctgggctgagg	14	9	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:47516675C>T	uc004din.2	-	5	319	c.263G>A	c.(262-264)CGC>CAC	p.R88H	UXT_uc004dim.2_Missense_Mutation_p.R100H|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	NM_004182	NP_004173	Q9UBK9	UXT_HUMAN	ubiquitously-expressed transcript isoform 2	88					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding				0						CACATAGATGCGTGAAGTATC	0.358													T	47516675	C	T	47516675	3	4	279	1	0	0	0	0	1	0	0	0	17107	768	27	1	222	1	UXT	23	47516675	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	244579	47516675	107753885	1058	144051											
ZNF630	57232	broad.mit.edu	37	chrX	47919007	47919007	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtataatgagctgtgacTtcttgataaaggctttccca	9	7	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:47919007T>G	uc004div.3	-	5	1076	c.824A>C	c.(823-825)AAG>ACG	p.K275T	ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K151T	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	zinc finger protein 630	275	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|lung(1)	2						GAGCTGTGACTTCTTGATAAA	0.383													G	47919007	T	G	47919007	3	3	279	1	0	0	0	0	1	0	0	0	18051	1609	56	5	1153	5	ZNF630	23	47919007	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	402332	47919007	107351553	1059	144052											
CCDC120	90060	broad.mit.edu	37	chrX	48925140	48925140	+	Frame_Shift_Del	DEL	G	G	-													cagtggcggtggaacaggctGgggggagctgccgcctgcag							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:48925140delG	uc010nik.2	+	10	1892	c.1385delG	c.(1384-1386)TGGfs	p.W462fs	CCDC120_uc011mmq.1_Frame_Shift_Del_p.W450fs|CCDC120_uc004dmf.2_Frame_Shift_Del_p.W462fs|CCDC120_uc010nil.2_Frame_Shift_Del_p.W462fs|CCDC120_uc011mmr.1_Frame_Shift_Del_p.W462fs|CCDC120_uc011mms.1_Frame_Shift_Del_p.W450fs	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	462	Pro-rich.						protein binding			pancreas(1)	1						GGAACAGGCTGGGGGGAGCTG	0.697													-	48925140	G	-	48925140	7	5	279	1	0	1	0	1	0	0	0	0	2756	1357	47	0	1415	0	CCDC120	23	48925140	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	1006133	48925140	106345420	1060	144053											
MAGED1	9500	broad.mit.edu	37	chrX	51638746	51638746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggctgacatagagaccGacccaggtatctctgaacct	9	14	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:51638746G>A	uc004dpm.2	+	3	738	c.643G>A	c.(643-645)GAC>AAC	p.D215N	MAGED1_uc004dpn.2_Missense_Mutation_p.D271N|MAGED1_uc004dpo.2_Missense_Mutation_p.D215N	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	215					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			ovary(3)	3	Ovarian(276;0.236)					CATAGAGACCGACCCAGGTAT	0.527										Multiple Myeloma(10;0.10)			A	51638746	G	A	51638746	3	1	279	1	0	0	0	0	1	0	0	0	9183	1058	37	1	821	1	MAGED1	23	51638746	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	2713606	51638746	103631814	1061	144054											
RIBC1	158787	broad.mit.edu	37	chrX	53453324	53453324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccgattcttcaatgtgCggaaccgagtcatgggggtg	13	8	3	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:53453324C>T	uc004dsk.2	+	3	253	c.100C>T	c.(100-102)CGG>TGG	p.R34W	RIBC1_uc004dsj.1_Missense_Mutation_p.R34W|RIBC1_uc011mog.1_Missense_Mutation_p.R34W	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	34											0						CTTCAATGTGCGGAACCGAGT	0.488													T	53453324	C	T	53453324	3	4	279	1	0	0	0	0	1	0	0	0	13352	759	27	1	102	1	RIBC1	23	53453324	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1814578	53453324	101817236	1062	144055											
RRAGB	10325	broad.mit.edu	37	chrX	55748700	55748700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatattgccagagacacaCgtcgccttggcgcaacaagt	9	11	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:55748700C>T	uc004dup.2	+	3	859	c.208C>T	c.(208-210)CGT>TGT	p.R70C	RRAGB_uc004duq.2_Missense_Mutation_p.R70C	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	70					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						CAGAGACACACGTCGCCTTGG	0.398													T	55748700	C	T	55748700	3	4	279	1	0	0	0	0	1	0	0	0	13673	536	19	1	218	1	RRAGB	23	55748700	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	2295376	55748700	99521860	1063	144056											
EDA2R	60401	broad.mit.edu	37	chrX	65824948	65824948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagttgaccttctgaaCacgattgatgacagcacagg	11	9	1	4			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:65824948C>A	uc004dwq.2	-	2	219	c.208G>T	c.(208-210)GTT>TTT	p.V70F	EDA2R_uc004dwr.2_Missense_Mutation_p.V70F|EDA2R_uc004dws.2_Missense_Mutation_p.V70F|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.V70F|EDA2R_uc004dwt.1_Missense_Mutation_p.V70F	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	70	Extracellular (Potential).|TNFR-Cys 2.				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						ACCTTCTGAACACGATTGATG	0.527													A	65824948	C	A	65824948	3	1	279	1	0	0	0	0	1	0	0	0	4904	478	17	5	701	5	EDA2R	23	65824948	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	10076248	65824948	89445612	1064	144057											
NLGN3	54413	broad.mit.edu	37	chrX	70387541	70387541	+	Frame_Shift_Del	DEL	G	G	-													atgaagtaccctatgtttttGgggttcctatggtaggcccc							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:70387541delG	uc004dzd.1	+	6	1794	c.1594delG	c.(1594-1596)GGGfs	p.G532fs	NLGN3_uc010nlb.1_Frame_Shift_Del_p.G492fs|NLGN3_uc004dzb.2_Frame_Shift_Del_p.G512fs|NLGN3_uc004dzc.2_Frame_Shift_Del_p.G395fs|NLGN3_uc011mps.1_Frame_Shift_Del_p.G492fs|NLGN3_uc004dze.2_Frame_Shift_Del_p.G330fs	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	532	Extracellular (Potential).				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			ovary(1)	1	Renal(35;0.156)					CTATGTTTTTGGGGTTCCTAT	0.502													-	70387541	G	-	70387541	7	5	279	1	0	1	0	1	0	0	0	0	10463	1348	47	0	1616	0	NLGN3	23	70387541	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	4562593	70387541	84883019	1065	144058											
TAF9B	51616	broad.mit.edu	37	chrX	77387182	77387182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattggctgtgttctgtgaCgaaaccatgttggtggtaat	12	6	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:77387182C>T	uc004eda.2	-	7	752	c.681G>A	c.(679-681)TCG>TCA	p.S227S		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	227					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						TGTTCTGTGACGAAACCATGT	0.368													T	77387182	C	T	77387182	2	4	279	1	0	0	0	0	0	0	0	1	15533	523	19	1		1	TAF9B	23	77387182	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6999641	77387182	77883378	1066	144059											
TAF9B	51616	broad.mit.edu	37	chrX	77393320	77393320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcagtctaggtcctgCatatggcttaatcagtggca	13	8	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:77393320C>T	uc004eda.2	-	4	402	c.331G>A	c.(331-333)GCA>ACA	p.A111T		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	transcription associated factor 9B	111					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding				0						CTAGGTCCTGCATATGGCTTA	0.338													T	77393320	C	T	77393320	3	4	279	1	0	0	0	0	1	0	0	0	15533	710	25	2	440	2	TAF9B	23	77393320	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	6138	77393320	77877240	1067	144060											
FAM133A	286499	broad.mit.edu	37	chrX	92965080	92965080	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaacaagcaaaggaaaAagtaaagaagaagaagaaga	12	3	0	6			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:92965080A>T	uc004efr.1	+	4	975	c.662A>T	c.(661-663)AAA>ATA	p.K221I		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	221	Lys-rich.										0						GCAAAGGAAAAAGTAaagaag	0.274													T	92965080	A	T	92965080	3	4	279	1	0	0	0	0	1	0	0	0	5443	14	1	5	664	5	FAM133A	23	92965080	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	15571760	92965080	62305480	1068	144061											
RPA4	29935	broad.mit.edu	37	chrX	96139979	96139979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagcatccatgagctcCgggctcagctctgcgacctt	12	13	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:96139979C>T	uc004efv.3	+	1	968	c.670C>T	c.(670-672)CGG>TGG	p.R224W	DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa	224					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						CCATGAGCTCCGGGCTCAGCT	0.522								Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	96139979	C	T	96139979	3	4	279	1	0	0	0	0	1	0	0	0	13539	643	23	1	672	1	RPA4	23	96139979	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3174899	96139979	59130581	1069	144062											
ZMAT1	84460	broad.mit.edu	37	chrX	101138490	101138490	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaactaaacattcaaaatcCaagaatagactcatcccaaa	2	10	2	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:101138490C>A	uc004eim.2	-	2	4894	c.1396G>T	c.(1396-1398)GGA>TGA	p.G466*	ZMAT1_uc011mrl.1_Nonsense_Mutation_p.G637*|ZMAT1_uc004ein.2_Nonsense_Mutation_p.G466*|ZMAT1_uc011mrm.1_Nonsense_Mutation_p.G466*	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	466						nucleus	zinc ion binding			ovary(1)	1						ATTCAAAATCCAAGAATAGAC	0.353													A	101138490	C	A	101138490	4	1	279	1	0	0	0	0	0	1	0	0	17688	603	21	5	11	5	ZMAT1	23	101138490	Nonsense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	4998511	101138490	54132070	1070	144063											
CXorf41	139212	broad.mit.edu	37	chrX	106482225	106482225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacaatccttgaccttcGtactcctcagaagtgagtaa	8	10	1	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:106482225G>A	uc004enc.2	+	6	565	c.503G>A	c.(502-504)CGT>CAT	p.R168H	CXorf41_uc004end.2_Missense_Mutation_p.R168H	NM_173494	NP_775765	Q9NQM4	CX041_HUMAN	hypothetical protein LOC139212	168											0						CTTGACCTTCGTACTCCTCAG	0.284													A	106482225	G	A	106482225	3	1	279	1	0	0	0	0	1	0	0	0	4110	1145	40	1	521	1	CXorf41	23	106482225	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	5343735	106482225	48788335	1071	144064											
IRS4	8471	broad.mit.edu	37	chrX	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C													cccacttcctgagcctttgcINScccccccagagttcttgcca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|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													C	107977804	-	C	107977803	7	5	279	1	0	1	1	0	0	0	0	0	7842	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Ins	INS	-	TCGA-HU-A4H3-01A-21D-A25D-08	1495578	107977803	47292757	1072	144065											
PLS3	5358	broad.mit.edu	37	chrX	114879381	114879382	+	Frame_Shift_Del	DEL	CT	CT	-													accttccgtaactggatgaaCtctcttggtgtcaatcctca							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:114879381_114879382delCT	uc004eqd.2	+	11	1614_1615	c.1224_1225delCT	c.(1222-1227)AACTCTfs	p.N408fs	PLS3_uc010nqg.2_Frame_Shift_Del_p.N190fs|PLS3_uc011mtf.1_Frame_Shift_Del_p.N395fs|PLS3_uc004eqe.2_Frame_Shift_Del_p.N408fs|PLS3_uc011mtg.1_Frame_Shift_Del_p.N381fs|PLS3_uc011mth.1_Frame_Shift_Del_p.N363fs|PLS3_uc011mti.1_Frame_Shift_Del_p.N84fs|PLS3_uc011mtj.1_Frame_Shift_Del_p.N2fs|PLS3_uc011mtk.1_Frame_Shift_Del_p.N69fs|PLS3_uc011mtl.1_RNA	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	408_409	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						ACTGGATGAACTCTCTTGGTGT	0.356													-	114879382	CT	-	114879381	7	5	279	1	0	1	0	1	0	0	0	0	12108	564	20	0	1262	0	PLS3	23	114879381	Frame_Shift_Del	DEL	CT	TCGA-HU-A4H3-01A-21D-A25D-08	6901578	114879381	40391179	1073	144066											
KIAA1210	57481	broad.mit.edu	37	chrX	118222649	118222649	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgattctgtgaagacTtctgcatcttcaggctcctc	8	12	4	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:118222649T>G	uc004era.3	-	11	2544	c.2544A>C	c.(2542-2544)GAA>GAC	p.E848D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	848										ovary(4)|skin(1)	5						CTGTGAAGACTTCTGCATCTT	0.488													G	118222649	T	G	118222649	3	3	279	1	0	0	0	0	1	0	0	0	8214	1606	56	5	2601	5	KIAA1210	23	118222649	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	3343268	118222649	37047911	1074	144067											
CXorf56	63932	broad.mit.edu	37	chrX	118678354	118678354	+	Frame_Shift_Del	DEL	T	T	-													tttctgagtatatatgttcgTtttcccaaagccctggccaa							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:118678354delT	uc004erk.1	-	4	431	c.385delA	c.(385-387)ACGfs	p.T129fs	CXorf56_uc004erj.1_Frame_Shift_Del_p.T80fs|CXorf56_uc011mtu.1_Frame_Shift_Del_p.T115fs	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	129							protein binding				0						TATATGTTCGTTTTCCCAAAG	0.428													-	118678354	T	-	118678354	7	5	279	1	0	1	0	1	0	0	0	0	4112	1725	60	0	299	0	CXorf56	23	118678354	Frame_Shift_Del	DEL	T	TCGA-HU-A4H3-01A-21D-A25D-08	455705	118678354	36592206	1075	144068											
GLUD2	2747	broad.mit.edu	37	chrX	120183165	120183165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcctatgtcaatgccAttgaaaaagtcttcaaagtg	8	9	3	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:120183165A>G	uc004eto.2	+	1	1704	c.1627A>G	c.(1627-1629)ATT>GTT	p.I543V		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	543					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTCAATGCCATTGAAAAAGT	0.458													G	120183165	A	G	120183165	3	3	279	1	0	0	0	0	1	0	0	0	6477	217	8	3	1629	3	GLUD2	23	120183165	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	1504811	120183165	35087395	1076	144069											
BCORL1	63035	broad.mit.edu	37	chrX	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-													tggaggcttggacgacagatCccccccaggctcctctgaga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	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						GGACGACAGATCCCCCCCAGG	0.607													-	129190011	C	-	129190011	7	5	279	1	0	1	0	1	0	0	0	0	1387	855	30	0	5308	0	BCORL1	23	129190011	Frame_Shift_Del	DEL	C	TCGA-HU-A4H3-01A-21D-A25D-08	9006846	129190011	26080549	1077	144070											
IGSF1	3547	broad.mit.edu	37	chrX	130419306	130419306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggacttggtaatccaCaggctctgcatatccctctt	9	11	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:130419306C>T	uc004ewd.2	-	5	752	c.514G>A	c.(514-516)GTG>ATG	p.V172M	IGSF1_uc004ewe.3_Missense_Mutation_p.V161M|IGSF1_uc004ewf.2_Missense_Mutation_p.V152M|IGSF1_uc004ewg.2_Missense_Mutation_p.V172M	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	172	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGGTAATCCACAGGCTCTGCA	0.493													T	130419306	C	T	130419306	3	4	279	1	0	0	0	0	1	0	0	0	7596	478	17	4	3637	4	IGSF1	23	130419306	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	1229295	130419306	24851254	1078	144071											
MST4	51765	broad.mit.edu	37	chrX	131203605	131203605	+	Frame_Shift_Del	DEL	A	A	-													gagttctgtttcttattcccAaaaacaatcctccaactctt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:131203604_131203604CA>C	uc004ewk.1	+	6	997	c.696_696CA>C	c.(694-696)cccfs	p.P232fs	MST4_uc004ewl.1_Frame_Shift_Del_p.P155fs|MST4_uc011mux.1_Frame_Shift_Del_p.P254fs|MST4_uc010nrj.1_Frame_Shift_Del_p.P232fs|MST4_uc004ewm.1_Intron	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	232	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTCTTATTCCCAAAAACAATC	0.388													-	131203605	A	-	131203605	7	5	279	1	0	1	0	1	0	0	0	0	9892	131	5	0	719	0	MST4	23	131203605	Frame_Shift_Del	DEL	A	TCGA-HU-A4H3-01A-21D-A25D-08	784299	131203605	24066955	1079	144072											
FRMD7	90167	broad.mit.edu	37	chrX	131211976	131211978	+	In_Frame_Del	DEL	TCT	TCT	-													tgttgaaataagcatcttcaTcttcttcatctaactgtaga							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:131211976_131211978delTCT	uc004ewn.2	-	12	2245_2247	c.2067_2069delAGA	c.(2065-2070)GAAGAT>GAT	p.E689del	FRMD7_uc011muy.1_In_Frame_Del_p.E674del	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	689					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGCATCTTCATCTTCTTCATCTA	0.384													-	131211978	TCT	-	131211976	7	5	279	1	0	1	0	1	0	0	0	0	6055	1435	50	0	79	0	FRMD7	23	131211976	In_Frame_Del	DEL	TCT	TCGA-HU-A4H3-01A-21D-A25D-08	8371	131211976	24058584	1080	144073											
SLC9A6	10479	broad.mit.edu	37	chrX	135067850	135067850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgtccgagaagcaagcCgaggagagccaccggcagga	15	11	0	2			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:135067850C>T	uc004ezj.2	+	1	265	c.189C>T	c.(187-189)GCC>GCT	p.A63A	SLC9A6_uc004ezk.2_Silent_p.A63A|SLC9A6_uc011mvx.1_Silent_p.A11A	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	63					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGAAGCAAGCCGAGGAGAGCC	0.642													T	135067850	C	T	135067850	2	4	279	1	0	0	0	0	0	0	0	1	14718	639	23	1		1	SLC9A6	23	135067850	Silent	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	3855874	135067850	20202710	1081	144074											
MCF2	4168	broad.mit.edu	37	chrX	138667228	138667228	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actatattattactaaccatGaggggcctattttcttcttc	5	9	2	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:138667228G>A	uc004fau.2	-	24	3036	c.2742C>T	c.(2740-2742)CTC>CTT	p.L914L	MCF2_uc004fav.2_Silent_p.L930L|MCF2_uc011mwl.1_Silent_p.L891L|MCF2_uc010nsh.1_Intron|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Silent_p.L974L|MCF2_uc011mwo.1_Silent_p.L990L	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	914					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			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TACTAACCATGAGGGGCCTAT	0.373													A	138667228	G	A	138667228	2	1	279	1	0	0	0	0	0	0	0	1	9378	1277	45	4		4	MCF2	23	138667228	Silent	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3599378	138667228	16603332	1082	144075											
MAGEC1	9947	broad.mit.edu	37	chrX	140996328	140996328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagggagctcctcactaaAgtttgggtgcaggaacatta	11	10	1	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:140996328A>C	uc004fbt.2	+	4	3424	c.3138A>C	c.(3136-3138)AAA>AAC	p.K1046N	MAGEC1_uc010nsl.1_Missense_Mutation_p.K113N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1046	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCACTAAAGTTTGGGTGC	0.552										HNSCC(15;0.026)			C	140996328	A	C	140996328	3	2	279	1	0	0	0	0	1	0	0	0	9180	69	3	5	3144	5	MAGEC1	23	140996328	Missense_Mutation	SNP	A	TCGA-HU-A4H3-01A-21D-A25D-08	2329100	140996328	14274232	1083	144076											
MAGEC1	9947	broad.mit.edu	37	chrX	140996374	140996374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaccgggaggtgcccaacTcttctcctcctcgttacgaa	9	14	2	0			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:140996374T>C	uc004fbt.2	+	4	3470	c.3184T>C	c.(3184-3186)TCT>CCT	p.S1062P	MAGEC1_uc010nsl.1_Missense_Mutation_p.S129P	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1062	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCCCAACTCTTCTCCTCC	0.512										HNSCC(15;0.026)			C	140996374	T	C	140996374	3	2	279	1	0	0	0	0	1	0	0	0	9180	1551	54	3	3190	3	MAGEC1	23	140996374	Missense_Mutation	SNP	T	TCGA-HU-A4H3-01A-21D-A25D-08	46	140996374	14274186	1084	144077											
SPANXN1	494118	broad.mit.edu	37	chrX	144329135	144329135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccacttcaagcatcaatgGggagaagaggaagagcccct	12	11	2	3			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:144329135G>T	uc004fcb.2	+	1	29	c.29G>T	c.(28-30)GGG>GTG	p.G10V		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	10											0	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATCAATGGGGAGAAGAGG	0.338													T	144329135	G	T	144329135	3	4	279	1	0	0	0	0	1	0	0	0	14990	1232	43	5	31	5	SPANXN1	23	144329135	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	3332761	144329135	10941425	1085	144078											
MAGEA1	4100	broad.mit.edu	37	chrX	152482876	152482876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgacccagcagtgggcacCtcctccagggtgcccaggac	13	15	0	1			TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:152482876C>A	uc004fhf.2	-	3	355	c.135G>T	c.(133-135)GAG>GAT	p.E45D		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	45						cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGGCACCTCCTCCAGGG	0.632													A	152482876	C	A	152482876	3	1	279	1	0	0	0	0	1	0	0	0	9163	680	24	5	798	5	MAGEA1	23	152482876	Missense_Mutation	SNP	C	TCGA-HU-A4H3-01A-21D-A25D-08	8153741	152482876	2787684	1086	144079											
TREX2	11219	broad.mit.edu	37	chrX	152710795	152710795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggtggacagcaaagaGggacagctcggcaatctcgg	17	9	1	1	rs151053685		TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:152710795G>T	uc010nue.1	-	3	336	c.220C>A	c.(220-222)CTC>ATC	p.L74I	TREX2_uc010nud.1_Missense_Mutation_p.L32I|TREX2_uc011myp.1_Missense_Mutation_p.L32I|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	75					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCAAAGAGGGACAGCTCG	0.637								Editing_and_processing_nucleases					T	152710795	G	T	152710795	3	4	279	1	0	0	0	0	1	0	0	0	16474	1000	35	5	619	5	TREX2	23	152710795	Missense_Mutation	SNP	G	TCGA-HU-A4H3-01A-21D-A25D-08	227919	152710795	2559765	1087	144080											
FLNA	2316	broad.mit.edu	37	chrX	153583264	153583264	+	Frame_Shift_Del	DEL	G	G	-													gatgacgtatttgcccggctGgggggccgtgtagaagatgt							TCGA-HU-A4H3-01A-21D-A25D-08	TCGA-HU-A4H3-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4217ee3-8720-46c6-86c4-981ce6377fa9	1f68952d-2c49-4562-815b-bab0dc54415a	g.chrX:153583263_153583263TG>T	uc004fkk.2	-	30	5396	c.5147_5147CA>A	c.(5146-5148)cagfs	p.Q1716fs	FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Frame_Shift_Del_p.Q1708fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1716					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	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|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)					TTTGCCCGGCTGGGGGGCCGT	0.612													-	153583264	G	-	153583264	7	5	279	1	0	1	0	1	0	0	0	0	5933	1357	47	0	2869	0	FLNA	23	153583264	Frame_Shift_Del	DEL	G	TCGA-HU-A4H3-01A-21D-A25D-08	872469	153583264	1687296	1088	144081											
TPRG1L	127262	broad.mit.edu	37	chr1	3545105	3545105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacctacgtgggactcatgTccttcattaacaacgaggcg	10	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:3545105T>C	uc001akm.2	+	5	838	c.757T>C	c.(757-759)TCC>CCC	p.S253P	TPRG1L_uc009vlj.2_Missense_Mutation_p.S194P	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	253						cell junction|synaptic vesicle					0	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)		GGGACTCATGTCCTTCATTAA	0.557													C	3545105	T	C	3545105	3	2	280	1	0	0	0	0	1	0	0	0	16416	1667	58	3	775	3	TPRG1L	1	3545105	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08		3545105	245705516	1	144082											
CHD5	26038	broad.mit.edu	37	chr1	6228223	6228223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcacctctttcttcttcCgcttccctttacacttgttt	2	17	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:6228223C>T	uc001amb.1	-	2	294	c.194G>A	c.(193-195)CGG>CAG	p.R65Q		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	65	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	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)		TTTCTTCTTCCGCTTCCCTTT	0.592													T	6228223	C	T	6228223	3	4	280	1	0	0	0	0	1	0	0	0	3328	652	23	1	5830	1	CHD5	1	6228223	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2683118	6228223	243022398	2	144083											
DNAJC11	55735	broad.mit.edu	37	chr1	6697386	6697386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcccgtaccaggcatTgacgatgatgaggcctaagg	11	10	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:6697386T>C	uc001aof.2	-	14	1502	c.1396A>G	c.(1396-1398)AAT>GAT	p.N466D	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.N414D|DNAJC11_uc010nzu.1_Missense_Mutation_p.N376D	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	466					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TACCAGGCATTGACGATGATG	0.572													C	6697386	T	C	6697386	3	2	280	1	0	0	0	0	1	0	0	0	4630	1812	63	3	295	3	DNAJC11	1	6697386	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	469163	6697386	242553235	3	144084											
DNAJC11	55735	broad.mit.edu	37	chr1	6714070	6714070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagcgatcaaaaaggtcGgtggcatctactccaacgct	9	11	3	0	rs147338908	byFrequency	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:6714070G>A	uc001aof.2	-	5	514	c.408C>T	c.(406-408)ACC>ACT	p.T136T	DNAJC11_uc010nzt.1_Silent_p.T98T|DNAJC11_uc001aog.2_Silent_p.T136T|DNAJC11_uc010nzu.1_Silent_p.T46T	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	136					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAAAGGTCGGTGGCATCTA	0.458													A	6714070	G	A	6714070	2	1	280	1	0	0	0	0	0	0	0	1	4630	1103	39	1		1	DNAJC11	1	6714070	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	16684	6714070	242536551	4	144085											
RERE	473	broad.mit.edu	37	chr1	8716211	8716211	+	Frame_Shift_Del	DEL	T	T	-													tgtgatcactctcagcataaTttttggctcctccttccaag							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:8716210_8716210AT>A	uc001ape.3	-	2	957	c.147_147AT>T	c.(145-147)aatfs	p.N49fs	RERE_uc001apf.3_Frame_Shift_Del_p.N49fs|RERE_uc001aph.1_Frame_Shift_Del_p.N49fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	49					NLS-bearing substrate import into nucleus|multicellular organismal development	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)		TCTCAGCATAATTTTTGGCTC	0.483													-	8716211	T	-	8716211	7	5	280	1	0	1	0	1	0	0	0	0	13231	1493	52	0	4642	0	RERE	1	8716211	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	2002141	8716211	240534410	5	144086											
ENO1	2023	broad.mit.edu	37	chr1	8926353	8926353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaccttctttattctccaGgatgttgggagcaaacccgc	8	11	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:8926353G>T	uc001apj.1	-	7	803	c.652C>A	c.(652-654)CTG>ATG	p.L218M	ENO1_uc001api.1_Missense_Mutation_p.L122M|ENO1_uc001apk.1_Missense_Mutation_p.L163M|ENO1_uc001apl.1_Missense_Mutation_p.L218M|ENO1_uc009vmi.1_Missense_Mutation_p.L175M|ENO1_uc009vmj.1_Missense_Mutation_p.L218M|ENO1_uc009vmk.1_Missense_Mutation_p.L92M|ENO1_uc009vml.1_Missense_Mutation_p.L218M	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	218	Required for repression of c-myc promoter activity.				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			ovary(2)|kidney(1)|central_nervous_system(1)	4	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)		TTATTCTCCAGGATGTTGGGA	0.567													T	8926353	G	T	8926353	3	4	280	1	0	0	0	0	1	0	0	0	5121	991	35	5	676	5	ENO1	1	8926353	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	210142	8926353	240324268	6	144087											
VPS13D	55187	broad.mit.edu	37	chr1	12337845	12337845	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgagttgttggtgggAcacttgggacagatattcat	13	6	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:12337845A>C	uc001atv.2	+	19	4341	c.4200A>C	c.(4198-4200)GGA>GGC	p.G1400G	VPS13D_uc001atw.2_Silent_p.G1400G|VPS13D_uc001atx.2_Silent_p.G588G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1400					protein localization					ovary(4)|pancreas(1)	5	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)		TGTTGGTGGGACACTTGGGAC	0.443													C	12337845	A	C	12337845	2	2	280	1	0	0	0	0	0	0	0	1	17189	262	10	5		5	VPS13D	1	12337845	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3411492	12337845	236912776	7	144088											
CLCNKA	1187	broad.mit.edu	37	chr1	16352735	16352735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcaccctgttcctggGcaaagtggtatggtcaggtg	15	10	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:16352735G>A	uc001axu.2	+	5	571	c.491G>A	c.(490-492)GGC>GAC	p.G164D	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.G164D|CLCNKA_uc010obw.1_Missense_Mutation_p.G121D|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	164	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		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)	CTGTTCCTGGGCAAAGTGGTA	0.587													A	16352735	G	A	16352735	3	1	280	1	0	0	0	0	1	0	0	0	3469	1203	42	2	505	2	CLCNKA	1	16352735	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4014890	16352735	232897886	8	144089											
EPHA2	1969	broad.mit.edu	37	chr1	16456044	16456045	+	Frame_Shift_Ins	INS	-	-	C													gacaccgtgcggaagggcacINScccctccgagccgctcgtgc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:16456043_16456044A>AC	uc001aya.2	-	15	2865_2866	c.2710_2711T>GT	c.(2710-2712)gtgfs	p.V904fs		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	904	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.|SAM.				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)	GCGGAAGGGCACCCCCTCCGAG	0.649													C	16456045	-	C	16456044	7	5	280	1	0	1	1	0	0	0	0	0	5167	507	18	0	228	0	EPHA2	1	16456044	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	103309	16456044	232794577	9	144090											
USP48	84196	broad.mit.edu	37	chr1	22079511	22079511	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagtgtccaggcccaAggctttaacaaatcctgatg	9	11	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:22079511A>G	uc001bfb.2	-	4	752	c.514T>C	c.(514-516)TTG>CTG	p.L172L	USP48_uc010odq.1_Silent_p.L172L|USP48_uc009vqc.2_Silent_p.L172L|USP48_uc001bfc.2_Silent_p.L172L|USP48_uc001bfe.1_Silent_p.L172L|USP48_uc001bff.2_Silent_p.L172L	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	172					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		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)		TCCAGGCCCAAGGCTTTAACA	0.378													G	22079511	A	G	22079511	2	3	280	1	0	0	0	0	0	0	0	1	17076	69	3	3		3	USP48	1	22079511	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5623467	22079511	227171110	10	144091											
UBXN11	91544	broad.mit.edu	37	chr1	26608997	26608997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctgcagcgtgagtgtAtcgtcctggtagagggtggg	18	8	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:26608997A>G	uc001blw.2	-	16	1629	c.1356T>C	c.(1354-1356)GAT>GAC	p.D452D	UBXN11_uc001blz.1_Silent_p.D419D|UBXN11_uc001blv.2_Silent_p.D414D|UBXN11_uc001bly.2_Silent_p.D332D|UBXN11_uc001blx.2_Silent_p.D210D|UBXN11_uc001bma.2_Silent_p.D419D|UBXN11_uc001bmb.1_Silent_p.D452D	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	452	UBX.					cytoplasm|cytoskeleton				ovary(1)	1						GCGTGAGTGTATCGTCCTGGT	0.577													G	26608997	A	G	26608997	2	3	280	1	0	0	0	0	0	0	0	1	16910	446	16	3		3	UBXN11	1	26608997	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4529486	26608997	222641624	11	144092											
ARID1A	8289	broad.mit.edu	37	chr1	27097622	27097622	+	Frame_Shift_Del	DEL	A	A	-													ttatacaggtcaacaagaacAaaaaatggcgggaacttgca							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:27097621_27097621CA>C	uc001bmv.1	+	11	3583	c.3210_3210CA>C	c.(3208-3210)aacfs	p.N1070fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.N1070fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.N1070fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.N687fs|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1070	ARID.				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	SWI/SNF complex|nBAF complex|npBAF 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)		TCAACAAGAACAAAAAATGGC	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27097622	A	-	27097622	7	5	280	1	0	1	0	1	0	0	0	0	913	131	5	0	3257	0	ARID1A	1	27097622	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	488625	27097622	222152999	12	144093											
OPRD1	4985	broad.mit.edu	37	chr1	29189495	29189495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcgccttcgtggtgtgTtgggcgcccatccacatctt	14	12	1	0	rs142127727		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:29189495T>C	uc001brf.1	+	3	1061	c.819T>C	c.(817-819)TGT>TGC	p.C273C		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	273	Helical; Name=6; (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		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)	TCGTGGTGTGTTGGGCGCCCA	0.677													C	29189495	T	C	29189495	2	2	280	1	0	0	0	0	0	0	0	1	10884	1731	60	3		3	OPRD1	1	29189495	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2091873	29189495	220061126	13	144094											
TMEM200B	399474	broad.mit.edu	37	chr1	29447700	29447700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggcaggtaaccccaagCgaggattagcgggctctgaa	14	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:29447700C>T	uc001brn.1	-	2	701	c.641G>A	c.(640-642)CGC>CAC	p.R214H		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	214	Pro-rich.					integral to membrane					0		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)		TAACCCCAAGCGAGGATTAGC	0.657													T	29447700	C	T	29447700	3	4	280	1	0	0	0	0	1	0	0	0	16121	768	27	1	286	1	TMEM200B	1	29447700	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	258205	29447700	219802921	14	144095											
PUM1	9698	broad.mit.edu	37	chr1	31467969	31467969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttgtccatcacatcAccctcctccttcaaatctcc	3	17	5	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:31467969A>G	uc001bsi.1	-	6	932	c.819T>C	c.(817-819)GGT>GGC	p.G273G	PUM1_uc001bsf.1_5'Flank|PUM1_uc001bsg.1_Silent_p.G85G|PUM1_uc001bsh.1_Silent_p.G273G|PUM1_uc001bsj.1_Silent_p.G273G|PUM1_uc010oga.1_Silent_p.G177G|PUM1_uc001bsk.1_Silent_p.G309G|PUM1_uc010ogb.1_Silent_p.G213G	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	273					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		CCATCACATCACCCTCCTCCT	0.418													G	31467969	A	G	31467969	2	3	280	1	0	0	0	0	0	0	0	1	12825	146	6	3		3	PUM1	1	31467969	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2020269	31467969	217782652	15	144096											
PUM1	9698	broad.mit.edu	37	chr1	31532079	31532079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgaatgttatccccaGtaggccatcgatgtttgcta	9	10	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:31532079G>C	uc001bsi.1	-	2	448	c.335C>G	c.(334-336)ACT>AGT	p.T112S	PUM1_uc001bsh.1_Missense_Mutation_p.T112S|PUM1_uc001bsj.1_Missense_Mutation_p.T112S|PUM1_uc010oga.1_Missense_Mutation_p.T112S|PUM1_uc001bsk.1_Missense_Mutation_p.T148S|PUM1_uc010ogb.1_Missense_Mutation_p.T148S	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	112					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		GTTATCCCCAGTAGGCCATCG	0.433													C	31532079	G	C	31532079	3	2	280	1	0	0	0	0	1	0	0	0	12825	1029	36	5	3315	5	PUM1	1	31532079	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	64110	31532079	217718542	16	144097											
KPNA6	23633	broad.mit.edu	37	chr1	32635611	32635611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagcaagagggcaagcGcagtggctcaggggtcaatc	17	8	2	2	rs142180334	by1000genomes	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:32635611G>A	uc001bug.2	+	13	1461	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	KPNA6_uc001buh.2_Missense_Mutation_p.R233H|KPNA6_uc010ogx.1_Missense_Mutation_p.R455H|KPNA6_uc010ogy.1_Missense_Mutation_p.R463H|KPNA6_uc009vtz.2_Missense_Mutation_p.R353H	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	458	ARM 10; atypical.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAGGGCAAGCGCAGTGGCTCA	0.532													A	32635611	G	A	32635611	3	1	280	1	0	0	0	0	1	0	0	0	8434	1087	38	1	1423	1	KPNA6	1	32635611	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1103532	32635611	216615010	17	144098											
RNF19B	127544	broad.mit.edu	37	chr1	33404024	33404024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggttgtaggaactgatTatggaaccggccatagcacg	14	7	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:33404024T>C	uc010oho.1	-	8	1719	c.1719A>G	c.(1717-1719)ATA>ATG	p.I573M	RNF19B_uc001bwm.3_Missense_Mutation_p.I572M|RNF19B_uc010ohp.1_Missense_Mutation_p.I572M	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	573						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGAACTGATTATGGAACCGG	0.468													C	33404024	T	C	33404024	3	2	280	1	0	0	0	0	1	0	0	0	13471	1744	61	3	513	3	RNF19B	1	33404024	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	768413	33404024	215846597	18	144099											
CSMD2	114784	broad.mit.edu	37	chr1	33990501	33990501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaagtgcagctccacGccactgtggtcgatcatggt	11	14	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:33990501G>A	uc001bxn.1	-	65	9974	c.9945C>T	c.(9943-9945)GGC>GGT	p.G3315G	CSMD2_uc001bxm.1_Silent_p.G3459G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3315	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGCTCCACGCCACTGTGGT	0.562													A	33990501	G	A	33990501	2	1	280	1	0	0	0	0	0	0	0	1	3945	1074	38	1		1	CSMD2	1	33990501	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	586477	33990501	215260120	19	144100											
GJB5	2709	broad.mit.edu	37	chr1	35223145	35223145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgagttcttccctgtgTcccatgtgcgcctctgggcc	11	13	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:35223145T>C	uc001bxu.2	+	2	314	c.214T>C	c.(214-216)TCC>CCC	p.S72P	GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	72	Extracellular (Potential).				cell communication|epidermis development	connexon complex|integral to membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)				CTTCCCTGTGTCCCATGTGCG	0.602													C	35223145	T	C	35223145	3	2	280	1	0	0	0	0	1	0	0	0	6411	1667	58	3	216	3	GJB5	1	35223145	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1232644	35223145	214027476	20	144101											
DLGAP3	58512	broad.mit.edu	37	chr1	35370053	35370053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtgcaggcaaggcagCggccttccgacccgcccgag	14	16	0	0	rs141061512	byFrequency	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:35370053C>T	uc001byc.2	-	1	932	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	311					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				GGCAAGGCAGCGGCCTTCCGA	0.647													T	35370053	C	T	35370053	3	4	280	1	0	0	0	0	1	0	0	0	4561	768	27	1	2047	1	DLGAP3	1	35370053	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	146908	35370053	213880568	21	144102											
DLGAP3	58512	broad.mit.edu	37	chr1	35370418	35370418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatagtcccgcttccccggCgcctccagagagtgggactt	11	14	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:35370418C>T	uc001byc.2	-	1	567	c.567G>A	c.(565-567)GCG>GCA	p.A189A		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	189					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				GCTTCCCCGGCGCCTCCAGAG	0.657													T	35370418	C	T	35370418	2	4	280	1	0	0	0	0	0	0	0	1	4561	755	27	1		1	DLGAP3	1	35370418	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	365	35370418	213880203	22	144103											
EIF2C4	192670	broad.mit.edu	37	chr1	36297173	36297173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatacatacttgccactcGaggtaagttaaattttcttt	6	8	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:36297173G>A	uc001bzj.1	+	8	1184	c.994G>A	c.(994-996)GAG>AAG	p.E332K		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	332	PAZ.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTGCCACTCGAGGTAAGTTA	0.343													A	36297173	G	A	36297173	3	1	280	1	0	0	0	0	1	0	0	0	5008	1059	37	1	1024	1	EIF2C4	1	36297173	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	926755	36297173	212953448	23	144104											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947263	37947263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcacaccatcacgacgCgtgggtggcaagcgggtggt	16	10	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:37947263C>T	uc001cbb.3	+	4	795	c.645C>T	c.(643-645)CGC>CGT	p.R215R	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	215					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATCACGACGCGTGGGTGGCA	0.587													T	37947263	C	T	37947263	2	4	280	1	0	0	0	0	0	0	0	1	17558	755	27	1		1	ZC3H12A	1	37947263	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1650090	37947263	211303358	24	144105											
MACF1	23499	broad.mit.edu	37	chr1	39798016	39798016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttgccaataacttaaaatCgatttgtatacctgatgtga	6	7	1	2	rs150440643	by1000genomes	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:39798016C>T	uc010oiu.1	+	1	1207	c.1076C>T	c.(1075-1077)TCG>TTG	p.S359L	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1924					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			AACTTAAAATCGATTTGTATA	0.428													T	39798016	C	T	39798016	3	4	280	1	0	0	0	0	1	0	0	0	9144	893	31	1	5847	1	MACF1	1	39798016	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1850753	39798016	209452605	25	144106											
PABPC4	8761	broad.mit.edu	37	chr1	40030189	40030189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaggcccagactggcgTatagcacttggcattccttg	13	11	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:40030189T>C	uc010oiv.1	-	10	2257	c.1359A>G	c.(1357-1359)ATA>ATG	p.I453M	PABPC4_uc001cdl.2_Missense_Mutation_p.I453M|PABPC4_uc001cdm.2_Missense_Mutation_p.I453M	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	453					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	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)			CAGACTGGCGTATAGCACTTG	0.547													C	40030189	T	C	40030189	3	2	280	1	0	0	0	0	1	0	0	0	11366	1628	57	3	647	3	PABPC4	1	40030189	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	232173	40030189	209220432	26	144107											
FAF1	11124	broad.mit.edu	37	chr1	50956312	50956312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaaacgaaactgttctGccatctctctctcgtgagct	7	14	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:50956312G>A	uc009vyx.1	-	18	1664	c.1601C>T	c.(1600-1602)GCA>GTA	p.A534V	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.A534V|FAF1_uc010onc.1_Missense_Mutation_p.A292V	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	534					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			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AAACTGTTCTGCCATCTCTCT	0.348													A	50956312	G	A	50956312	3	1	280	1	0	0	0	0	1	0	0	0	5369	1319	46	2	363	2	FAF1	1	50956312	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	10926123	50956312	198294309	27	144108											
CDKN2C	1031	broad.mit.edu	37	chr1	51439924	51439924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaacggggctgggggAgccacaaatcttcaataaac	12	10	2	0	rs66920231		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:51439924A>G	uc001csf.2	+	3	1705	c.489A>G	c.(487-489)GGA>GGG	p.G163G	CDKN2C_uc001csg.2_Silent_p.G163G	NM_001262	NP_001253	P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C	163					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?(4)|p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GGGCTGGGGGAGCCACAAATC	0.507			D		glioma|MM				Multiple_Endocrine_Neoplasia_type_1				G	51439924	A	G	51439924	2	3	280	1	0	0	0	0	0	0	0	1	3165	291	11	3		3	CDKN2C	1	51439924	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	483612	51439924	197810697	28	144109											
DMRTB1	63948	broad.mit.edu	37	chr1	53930431	53930431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccaggctacctctctgCgctccacttcctccccccgc	6	24	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:53930431C>T	uc001cvq.1	+	3	927	c.872C>T	c.(871-873)GCG>GTG	p.A291V		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	291	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						TACCTCTCTGCGCTCCACTTC	0.517													T	53930431	C	T	53930431	3	4	280	1	0	0	0	0	1	0	0	0	4590	768	27	1	882	1	DMRTB1	1	53930431	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2490507	53930431	195320190	29	144110											
CACHD1	57685	broad.mit.edu	37	chr1	65157117	65157117	+	Frame_Shift_Del	DEL	C	C	-													tgaggacttagacctggataCcccccctcagactgctgccc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:65157116_65157116AC>A	uc001dbo.1	+	26	3649	c.3544_3544AC>A	c.(3544-3546)accfs	p.T1182fs	CACHD1_uc001dbp.1_Frame_Shift_Del_p.T937fs|CACHD1_uc001dbq.1_Frame_Shift_Del_p.T937fs|CACHD1_uc010opa.1_Frame_Shift_Del_p.T426fs|CACHD1_uc021ooi.1_Non-coding_Transcript	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		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						AGACCTGGATACCCCCCCTCA	0.552													-	65157117	C	-	65157117	7	5	280	1	0	1	0	1	0	0	0	0	2537	507	18	0	3651	0	CACHD1	1	65157117	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	11226686	65157117	184093504	30	144111											
RAVER2	55225	broad.mit.edu	37	chr1	65280486	65280486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacacgcattggaaaagtGcattgcttattctccacctt	6	11	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:65280486G>A	uc001dbs.1	+	11	1931	c.1853G>A	c.(1852-1854)TGC>TAC	p.C618Y	RAVER2_uc001dbt.1_Missense_Mutation_p.C510Y|RAVER2_uc010opb.1_Missense_Mutation_p.C343Y	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	631						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						TTGGAAAAGTGCATTGCTTAT	0.403													A	65280486	G	A	65280486	3	1	280	1	0	0	0	0	1	0	0	0	13095	1319	46	2	1895	2	RAVER2	1	65280486	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	123369	65280486	183970135	31	144112											
JAK1	3716	broad.mit.edu	37	chr1	65307255	65307255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacatgatggtgtcactggCctgcaccggctttcatagaa	10	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:65307255C>T	uc001dbu.1	-	18	2682	c.2433G>A	c.(2431-2433)AGG>AGA	p.R811R	JAK1_uc009wam.1_Silent_p.R799R|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	811	Protein kinase 1.				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			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTGTCACTGGCCTGCACCGGC	0.512			Mis		ALL								T	65307255	C	T	65307255	2	4	280	1	0	0	0	0	0	0	0	1	7937	738	26	2		2	JAK1	1	65307255	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	26769	65307255	183943366	32	144113											
C1orf173	127254	broad.mit.edu	37	chr1	75037669	75037669	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatctttggctgctagcTcctctgcctggcctgtggct	12	13	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:75037669T>A	uc001dgg.2	-	14	3944	c.3725A>T	c.(3724-3726)GAG>GTG	p.E1242V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1242	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						GGCTGCTAGCTCCTCTGCCTG	0.622													A	75037669	T	A	75037669	3	1	280	1	0	0	0	0	1	0	0	0	2014	1551	54	5	871	5	C1orf173	1	75037669	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	9730414	75037669	174212952	33	144114											
C1orf173	127254	broad.mit.edu	37	chr1	75097551	75097551	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaatgtttggaagttgaTatgaattcattctctgtgaa	9	3	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:75097551T>G	uc001dgg.2	-	7	884	c.665A>C	c.(664-666)TAT>TCT	p.Y222S	C1orf173_uc001dgi.3_Missense_Mutation_p.Y16S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	222										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TGGAAGTTGATATGAATTCAT	0.403													G	75097551	T	G	75097551	3	3	280	1	0	0	0	0	1	0	0	0	2014	1406	49	5	3959	5	C1orf173	1	75097551	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	59882	75097551	174153070	34	144115											
FUBP1	8880	broad.mit.edu	37	chr1	78429831	78429831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatttgtgctatcctttcGggtgttgtcccatcatcttc	8	10	2	0	rs112997035		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:78429831G>A	uc001dii.2	-	12	1046	c.957C>T	c.(955-957)CCC>CCT	p.P319P	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.P340P	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	319	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						CTATCCTTTCGGGTGTTGTCC	0.353													A	78429831	G	A	78429831	2	1	280	1	0	0	0	0	0	0	0	1	6092	1103	39	1		1	FUBP1	1	78429831	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	3332280	78429831	170820790	35	144116											
LRRC8B	23507	broad.mit.edu	37	chr1	90049599	90049599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtctcacagctggtcAacctcaaggagcttcgtgtg	11	12	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:90049599A>G	uc001dni.2	+	7	1897	c.1390A>G	c.(1390-1392)AAC>GAC	p.N464D	LRRC8B_uc001dnh.2_Missense_Mutation_p.N464D|LRRC8B_uc001dnj.2_Missense_Mutation_p.N464D	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	464	LRR 1.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		ACAGCTGGTCAACCTCAAGGA	0.483													G	90049599	A	G	90049599	3	3	280	1	0	0	0	0	1	0	0	0	9022	130	5	3	1392	3	LRRC8B	1	90049599	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	11619768	90049599	159201022	36	144117											
HFM1	164045	broad.mit.edu	37	chr1	91784745	91784745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaacttcttttcttgaGcagctacaaaatctgacaac	5	11	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:91784745G>A	uc001doa.3	-	25	2802	c.2702C>T	c.(2701-2703)GCT>GTT	p.A901V	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.A580V|HFM1_uc001dob.3_Intron|HFM1_uc010osv.1_Missense_Mutation_p.A585V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	901	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		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)		CTTTTCTTGAGCAGCTACAAA	0.299													A	91784745	G	A	91784745	3	1	280	1	0	0	0	0	1	0	0	0	7083	971	34	2	1665	2	HFM1	1	91784745	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1735146	91784745	157465876	37	144118											
AMY2B	280	broad.mit.edu	37	chr1	104117936	104117936	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggacatggggctggaGgagcctctattcttaccttc	12	10	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:104117936G>T	uc001duq.2	+	8	1586	c.970G>T	c.(970-972)GGA>TGA	p.G324*	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Nonsense_Mutation_p.G324*|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	324					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		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)		TGGGGCTGGAGGAGCCTCTAT	0.408													T	104117936	G	T	104117936	4	4	280	1	0	0	0	0	0	1	0	0	595	1001	35	5	992	5	AMY2B	1	104117936	Nonsense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	12333191	104117936	145132685	38	144119											
GPR61	83873	broad.mit.edu	37	chr1	110086505	110086505	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggagggaaagcagcagtGgttctcctggctgtgggggg	22	6	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:110086505G>T	uc001dxy.2	+	2	1544	c.861G>T	c.(859-861)GTG>GTT	p.V287V		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	287	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		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)		AAGCAGCAGTGGTTCTCCTGG	0.612													T	110086505	G	T	110086505	2	4	280	1	0	0	0	0	0	0	0	1	6702	1335	47	5		5	GPR61	1	110086505	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	5968569	110086505	139164116	39	144120											
LRIG2	9860	broad.mit.edu	37	chr1	113655265	113655265	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagacgcatgcacgtcatgCccgaggatgacgtcttcttt	10	11	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:113655265C>A	uc001edf.1	+	14	2161	c.1963C>A	c.(1963-1965)CCC>ACC	p.P655T	LRIG2_uc009wgn.1_Missense_Mutation_p.P552T	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	655	Ig-like C2-type 2.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	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)		GCACGTCATGCCCGAGGATGA	0.488													A	113655265	C	A	113655265	3	1	280	1	0	0	0	0	1	0	0	0	8945	739	26	5	2017	5	LRIG2	1	113655265	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3568760	113655265	135595356	40	144121											
VTCN1	79679	broad.mit.edu	37	chr1	117699342	117699342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagcaaacactgctgtcCggcctctgaacatttcatcc	7	14	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:117699342C>T	uc001ehb.2	-	3	371	c.299G>A	c.(298-300)CGG>CAG	p.R100Q	VTCN1_uc001ehc.2_Missense_Mutation_p.R5Q|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	100	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CACTGCTGTCCGGCCTCTGAA	0.463													T	117699342	C	T	117699342	3	4	280	1	0	0	0	0	1	0	0	0	17231	652	23	1	561	1	VTCN1	1	117699342	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4044077	117699342	131551279	41	144122											
SPAG17	200162	broad.mit.edu	37	chr1	118693199	118693200	+	Frame_Shift_Ins	INS	-	-	T													gagcattaccacctacaggtINSttttttgcctttttagatga							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:118693198_118693199G>GT	uc001ehk.2	-	2	350_351	c.282_283C>AC	c.(280-285)aaacctfs	p.K94fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	94						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)		CCACCTACAGGTTTTTTTGCCT	0.252													T	118693200	-	T	118693199	7	5	280	1	0	1	1	0	0	0	0	0	14979	1722	60	0	6573	0	SPAG17	1	118693199	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	993857	118693199	130557422	42	144123											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149399121	149399121	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtccttcttctgcactttcGtaacagcctttttggagccc	7	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:149399121G>C	uc010pbi.1	-	1		c.109C>G						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					CTGCACTTTCGTAACAGCCTT	0.537													C	149399121	G	C	149399121	1	2	280	0	1	0	0	0	0	0	0	0	7180	1145	40	5		5	HIST2H2BF	1	149399121	RNA	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	30705922	149399121	99851500	43	144124											
C1orf51	148523	broad.mit.edu	37	chr1	150258895	150258895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcctgcatctcctatGgaaaagatggaccagacaca	7	13	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:150258895G>A	uc001euh.2	+	6	823	c.687G>A	c.(685-687)ATG>ATA	p.M229I	C1orf51_uc001eui.2_Missense_Mutation_p.M141I|C1orf51_uc001euj.2_Missense_Mutation_p.M229I	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	229											0	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)			CATCTCCTATGGAAAAGATGG	0.468													A	150258895	G	A	150258895	3	1	280	1	0	0	0	0	1	0	0	0	2043	1348	47	4	705	4	C1orf51	1	150258895	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	859774	150258895	98991726	44	144125											
PRPF3	9129	broad.mit.edu	37	chr1	150300910	150300910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagagagccctggcatGctgactaagctccaggttag	11	12	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:150300910G>T	uc001eum.3	+	4	570	c.408G>T	c.(406-408)ATG>ATT	p.M136I	PRPF3_uc009wlo.2_Missense_Mutation_p.M136I|PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.M95I|PRPF3_uc010pcb.1_Intron	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	136					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	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)		GCCCTGGCATGCTGACTAAGC	0.473													T	150300910	G	T	150300910	3	4	280	1	0	0	0	0	1	0	0	0	12565	1319	46	5	418	5	PRPF3	1	150300910	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	42015	150300910	98949711	45	144126											
LINGO4	339398	broad.mit.edu	37	chr1	151774638	151774638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggtgagggtgctcaaCttggctagccctgcaaaggc	14	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:151774638C>T	uc001ezf.1	-	2	733	c.543G>A	c.(541-543)AAG>AAA	p.K181K		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	181	Extracellular (Potential).|LRR 6.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTGCTCAACTTGGCTAGCC	0.612													T	151774638	C	T	151774638	2	4	280	1	0	0	0	0	0	0	0	1	8817	564	20	4		4	LINGO4	1	151774638	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1473728	151774638	97475983	46	144127											
FLG	2312	broad.mit.edu	37	chr1	152279059	152279059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgtcttgtgcctgcTcatggcgggatccttgtctt	13	10	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:152279059T>G	uc001ezu.1	-	3	8339	c.8303A>C	c.(8302-8304)GAG>GCG	p.E2768A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTGCCTGCTCATGGCGGGA	0.587									Ichthyosis				G	152279059	T	G	152279059	3	3	280	1	0	0	0	0	1	0	0	0	5922	1551	54	5	3886	5	FLG	1	152279059	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	504421	152279059	96971562	47	144128											
FLG	2312	broad.mit.edu	37	chr1	152279699	152279699	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgcttgtcctgggcccctCtgattgtccctggcccacct	9	18	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:152279699C>A	uc001ezu.1	-	3	7699	c.7663G>T	c.(7663-7665)GAG>TAG	p.E2555*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2555	Ser-rich.|Filaggrin 15.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGCCCCTCTGATTGTCCC	0.597									Ichthyosis				A	152279699	C	A	152279699	4	1	280	1	0	0	0	0	0	1	0	0	5922	922	32	5	4526	5	FLG	1	152279699	Nonsense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	640	152279699	96970922	48	144129											
LCE2C	353140	broad.mit.edu	37	chr1	152648653	152648653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcccagctctgggagCtgctgtggtcccagctctgg	15	12	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:152648653C>T	uc001fah.2	+	2	217	c.162C>T	c.(160-162)AGC>AGT	p.S54S		NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	54	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGAGCTGCTGTGGTC	0.562													T	152648653	C	T	152648653	2	4	280	1	0	0	0	0	0	0	0	1	8667	796	28	2		2	LCE2C	1	152648653	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	368954	152648653	96601968	49	144130											
C1orf77	26097	broad.mit.edu	37	chr1	153609082	153609082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggctgcacagtcagcGccgaaagttgtgctaaaaag	12	8	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:153609082G>A	uc001fcm.1	+	2	330	c.18G>A	c.(16-18)GCG>GCA	p.A6A	C1orf77_uc001fcn.1_Silent_p.A6A|C1orf77_uc001fco.1_5'UTR|S100A13_uc001fcj.2_5'Flank|C1orf77_uc009woi.1_Silent_p.A6A|C1orf77_uc009woj.1_Silent_p.A6A	NM_015607	NP_056422	Q9Y3Y2	CHTOP_HUMAN	small protein rich in arginine and glycine	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding				0	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)			CACAGTCAGCGCCGAAAGTTG	0.423													A	153609082	G	A	153609082	2	1	280	1	0	0	0	0	0	0	0	1	2059	1074	38	1		1	C1orf77	1	153609082	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	960429	153609082	95641539	50	144131											
GATAD2B	57459	broad.mit.edu	37	chr1	153800775	153800775	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctgctgggtccaagcTccgcttcaacagattcaagc	8	14	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:153800775T>A	uc001fdb.3	-	2	293	c.49A>T	c.(49-51)AGC>TGC	p.S17C		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGTCCAAGCTCCGCTTCAAC	0.443													A	153800775	T	A	153800775	3	1	280	1	0	0	0	0	1	0	0	0	6261	1551	54	5	1772	5	GATAD2B	1	153800775	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	191693	153800775	95449846	51	144132											
DENND4B	9909	broad.mit.edu	37	chr1	153914362	153914362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcttccaagggtaggcgGtgggggcctgagacggagta	18	9	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:153914362G>A	uc001fdd.1	-	6	1439	c.1038C>T	c.(1036-1038)CAC>CAT	p.H346H		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	346	DENN.									ovary(1)	1	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)			AGGGTAGGCGGTGGGGGCCTG	0.632													A	153914362	G	A	153914362	2	1	280	1	0	0	0	0	0	0	0	1	4434	1252	44	4		4	DENND4B	1	153914362	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	113587	153914362	95336259	52	144133											
THBS3	7059	broad.mit.edu	37	chr1	155171231	155171231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacactgcaccattgcGttcaaagagacagtgagcat	11	10	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:155171231G>A	uc001fix.2	-	11	1329	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.R427C|THBS3_uc001fiz.2_Missense_Mutation_p.R436C|THBS3_uc001fiy.2_Translation_Start_Site|THBS3_uc010pfu.1_Missense_Mutation_p.R316C|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	436	EGF-like 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	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)			GCACCATTGCGTTCAAAGAGA	0.617													A	155171231	G	A	155171231	3	1	280	1	0	0	0	0	1	0	0	0	15852	1145	40	1	1616	1	THBS3	1	155171231	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1256869	155171231	94079390	53	144134											
CLK2	1196	broad.mit.edu	37	chr1	155233108	155233108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcttcacccaaggtcagCcgcttagctggttcatactc	10	13	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:155233108C>T	uc001fjy.2	-	13	1691	c.1401G>A	c.(1399-1401)CGG>CGA	p.R467R	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Silent_p.R466R|CLK2_uc001fjx.2_Silent_p.R239R|CLK2_uc009wqm.2_Silent_p.R467R	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	467	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	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)			CCAAGGTCAGCCGCTTAGCTG	0.572								Other_conserved_DNA_damage_response_genes					T	155233108	C	T	155233108	2	4	280	1	0	0	0	0	0	0	0	1	3537	726	26	2		2	CLK2	1	155233108	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	61877	155233108	94017513	54	144135											
ASH1L	55870	broad.mit.edu	37	chr1	155317563	155317563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagactgaggtctcacTgctgtctgcctcacttgctg	10	12	4	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:155317563T>C	uc009wqq.2	-	20	8182	c.7702A>G	c.(7702-7704)AGT>GGT	p.S2568G	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.S2563G|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2568					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			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	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)			GAGGTCTCACTGCTGTCTGCC	0.493													C	155317563	T	C	155317563	3	2	280	1	0	0	0	0	1	0	0	0	1041	1580	55	3	1243	3	ASH1L	1	155317563	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	84455	155317563	93933058	55	144136											
C1orf85	112770	broad.mit.edu	37	chr1	156263836	156263836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccggtgcatattcatcGtcgatggagtgctgctcctg	13	11	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:156263836G>A	uc001foh.2	-	4	784	c.771C>T	c.(769-771)GAC>GAT	p.D257D	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.D257D|C1orf85_uc009wrx.2_Silent_p.D190D|C1orf85_uc001foj.2_Silent_p.D171D	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	257	Lumenal (Potential).				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			ovary(2)	2	Hepatocellular(266;0.158)					CATATTCATCGTCGATGGAGT	0.572													A	156263836	G	A	156263836	2	1	280	1	0	0	0	0	0	0	0	1	2062	1136	40	1		1	C1orf85	1	156263836	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	946273	156263836	92986785	56	144137											
KIRREL	55243	broad.mit.edu	37	chr1	158058203	158058203	+	Frame_Shift_Del	DEL	C	C	-													cctgtgtctgggttgggaatCcccccctcactctcacctgg							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:158058202_158058202TC>T	uc001frn.4	+	7	1406	c.1002_1002TC>T	c.(1000-1002)aatfs	p.N334fs	KIRREL_uc010pib.2_Frame_Shift_Del_p.N234fs|KIRREL_uc009wsq.3_Frame_Shift_Del_p.N170fs|KIRREL_uc001fro.4_Frame_Shift_Del_p.N132fs	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	334	Ig-like C2-type 4.					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)					GGGTTGGGAATCCCCCCCTCA	0.453													-	158058203	C	-	158058203	7	5	280	1	0	1	0	1	0	0	0	0	8324	855	30	0	1033	0	KIRREL	1	158058203	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	1794367	158058203	91192418	57	144138											
CD1A	909	broad.mit.edu	37	chr1	158224875	158224875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgttcttttgtcgcaggGctcaaggagcctctctcctt	9	12	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:158224875G>A	uc001frt.2	+	2	593	c.60G>A	c.(58-60)GGG>GGA	p.G20G		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	20	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTGTCGCAGGGCTCAAGGAGC	0.478													A	158224875	G	A	158224875	2	1	280	1	0	0	0	0	0	0	0	1	2974	1217	42	2		2	CD1A	1	158224875	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	166672	158224875	91025746	58	144139											
OR10K1	391109	broad.mit.edu	37	chr1	158436275	158436275	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaacaatcggccaaacTttctatcctcttagttaaag	6	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:158436275T>A	uc010pij.1	+	1	924	c.924T>A	c.(922-924)ACT>ACA	p.T308T		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCGGCCAAACTTTCTATCCTC	0.224													A	158436275	T	A	158436275	2	1	280	1	0	0	0	0	0	0	0	1	10913	1596	56	5		5	OR10K1	1	158436275	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	211400	158436275	90814346	59	144140											
SPTA1	6708	broad.mit.edu	37	chr1	158592947	158592947	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctcgggaagtctctcTtgctggaaactctgcagact	11	10	4	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:158592947T>C	uc001fst.1	-	43	6145	c.5946A>G	c.(5944-5946)CAA>CAG	p.Q1982Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1982	Spectrin 19.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GAAGTCTCTCTTGCTGGAAAC	0.493													C	158592947	T	C	158592947	2	2	280	1	0	0	0	0	0	0	0	1	15115	1606	56	3		3	SPTA1	1	158592947	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	156672	158592947	90657674	60	144141											
SPTA1	6708	broad.mit.edu	37	chr1	158617367	158617367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtagaatttctgggcctcAtttaggctctccttacgatc	9	10	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:158617367A>C	uc001fst.1	-	27	4057	c.3858T>G	c.(3856-3858)AAT>AAG	p.N1286K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1286	Spectrin 12.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCTGGGCCTCATTTAGGCTCT	0.542													C	158617367	A	C	158617367	3	2	280	1	0	0	0	0	1	0	0	0	15115	214	8	5	3505	5	SPTA1	1	158617367	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	24420	158617367	90633254	61	144142											
SPTA1	6708	broad.mit.edu	37	chr1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcctagcagctcgagcaCggagagactccatattctgg	12	12	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:158627418C>T	uc001fst.1	-	19	2853	c.2654G>A	c.(2653-2655)CGT>CAT	p.R885H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	885	Spectrin 9.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468													T	158627418	C	T	158627418	3	4	280	1	0	0	0	0	1	0	0	0	15115	536	19	1	4741	1	SPTA1	1	158627418	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	10051	158627418	90623203	62	144143											
FCRL6	343413	broad.mit.edu	37	chr1	159785385	159785385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgaggtttcatccacGgaggtgaatatgagaagcag	13	8	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:159785385G>A	uc001fud.3	+	10	1281	c.1239G>A	c.(1237-1239)ACG>ACA	p.T413T	FCRL6_uc001fuc.2_3'UTR|FCRL6_uc009wsz.1_3'UTR|FCRL6_uc009wta.2_3'UTR	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	413	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					TTTCATCCACGGAGGTGAATA	0.522													A	159785385	G	A	159785385	2	1	280	1	0	0	0	0	0	0	0	1	5799	1103	39	1		1	FCRL6	1	159785385	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1157967	159785385	89465236	63	144144											
SLAMF1	6504	broad.mit.edu	37	chr1	160607221	160607221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacgacaatgtggatgcTtttgttcatgctcttattta	9	6	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:160607221T>C	uc001fwl.3	-	2	521	c.175A>G	c.(175-177)AGC>GGC	p.S59G	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.S59G	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	59	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTGGATGCTTTTGTTCATG	0.473													C	160607221	T	C	160607221	3	2	280	1	0	0	0	0	1	0	0	0	14367	1609	56	3	856	3	SLAMF1	1	160607221	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	821836	160607221	88643400	64	144145											
ADAMTS4	9507	broad.mit.edu	37	chr1	161163482	161163482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggaagcgggtacggcgGccctcacagtacttgccacc	14	14	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:161163482G>A	uc001fyt.3	-	6	2111	c.1683C>T	c.(1681-1683)GGC>GGT	p.G561G		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	561	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGTACGGCGGCCCTCACAGT	0.647													A	161163482	G	A	161163482	2	1	280	1	0	0	0	0	0	0	0	1	268	1190	42	2		2	ADAMTS4	1	161163482	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	556261	161163482	88087139	65	144146											
DDR2	4921	broad.mit.edu	37	chr1	162724598	162724598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtacaagatcaattacagtCgggatggcactcgctggatc	11	9	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:162724598C>T	uc001gcf.2	+	6	835	c.370C>T	c.(370-372)CGG>TGG	p.R124W	DDR2_uc001gcg.2_Missense_Mutation_p.R124W	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	124	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CAATTACAGTCGGGATGGCAC	0.522													T	162724598	C	T	162724598	3	4	280	1	0	0	0	0	1	0	0	0	4337	875	31	1	380	1	DDR2	1	162724598	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1561116	162724598	86526023	66	144147											
SCYL3	57147	broad.mit.edu	37	chr1	169831834	169831834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagacagcagcaccatccGcacatgctcttcatgaactt	8	13	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:169831834G>A	uc001ggs.2	-	10	1258	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W	SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.R354W|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	354	HEAT 3.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCACCATCCGCACATGCTCT	0.547													A	169831834	G	A	169831834	3	1	280	1	0	0	0	0	1	0	0	0	13949	1086	38	1	1188	1	SCYL3	1	169831834	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	7107236	169831834	79418787	67	144148											
TNN	63923	broad.mit.edu	37	chr1	175087876	175087876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtcctgacgggcctgAggccgggcatggagtacacg	16	12	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:175087876A>G	uc001gkl.1	+	11	2679	c.2566A>G	c.(2566-2568)AGG>GGG	p.R856G		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	856	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACGGGCCTGAGGCCGGGCAT	0.592													G	175087876	A	G	175087876	3	3	280	1	0	0	0	0	1	0	0	0	16320	295	11	3	2604	3	TNN	1	175087876	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5256042	175087876	74162745	68	144149											
XPR1	9213	broad.mit.edu	37	chr1	180832973	180832973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgataagaatgctggagagaAcactttcctccgggaagaga	12	8	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:180832973A>G	uc001goi.2	+	12	1823	c.1631A>G	c.(1630-1632)AAC>AGC	p.N544S	XPR1_uc009wxn.2_Missense_Mutation_p.N479S	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	544	EXS.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						GCTGGAGAGAACACTTTCCTC	0.398													G	180832973	A	G	180832973	3	3	280	1	0	0	0	0	1	0	0	0	17448	43	2	3	1677	3	XPR1	1	180832973	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5745097	180832973	68417648	69	144150											
LAMC1	3915	broad.mit.edu	37	chr1	183083734	183083734	+	Frame_Shift_Del	DEL	G	G	-													tctatcgttccactggccatGggggccactgtaccaactgc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:183083733_183083733TG>T	uc001gpy.4	+	4	1346	c.1089_1089TG>T	c.(1087-1089)catfs	p.H363fs		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	363	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)	CCACTGGCCATGGGGGCCACT	0.527													-	183083734	G	-	183083734	7	5	280	1	0	1	0	1	0	0	0	0	8614	1348	47	0	1108	0	LAMC1	1	183083734	Frame_Shift_Del	DEL	G	TCGA-HU-A4H4-01A-21D-A25D-08	2250761	183083734	66166887	70	144151											
HMCN1	83872	broad.mit.edu	37	chr1	186045737	186045737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgacctcaagtgataAagtattgattttgccaggta	8	9	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:186045737A>G	uc001grq.1	+	54	8697	c.8468A>G	c.(8467-8469)AAA>AGA	p.K2823R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2823	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCAAGTGATAAAGTATTGATT	0.418													G	186045737	A	G	186045737	3	3	280	1	0	0	0	0	1	0	0	0	7220	14	1	3	8682	3	HMCN1	1	186045737	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2962003	186045737	63204884	71	144152											
TROVE2	6738	broad.mit.edu	37	chr1	193060808	193060808	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaataccctactaaataaatCattttagacatggagtgcag	6	7	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:193060808C>T	uc001gsw.2	+	10	1988	c.1571C>T	c.(1570-1572)TCA>TTA	p.S524L	TROVE2_uc009wyp.2_3'UTR|TROVE2_uc009wyq.2_3'UTR|TROVE2_uc001gsy.2_RNA	NM_001042369	NP_001035828	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 1	Error:Variant_position_missing_in_P10155_after_alignment					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						CTAAATAAATCATTTTAGACA	0.323													T	193060808	C	T	193060808	3	4	280	1	0	0	0	0	1	0	0	0	16573	838	29	4	1697	4	TROVE2	1	193060808	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7015071	193060808	56189813	72	144153											
KCNT2	343450	broad.mit.edu	37	chr1	196227426	196227426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggttcagtcgctgctgggTtattttttcagctgttttac	11	7	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:196227426T>C	uc001gtd.1	-	26	3169	c.3109A>G	c.(3109-3111)ACC>GCC	p.T1037A	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T970A|KCNT2_uc001gtf.1_Missense_Mutation_p.T1013A|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.T541A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1037	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CGCTGCTGGGTTATTTTTTCA	0.468													C	196227426	T	C	196227426	3	2	280	1	0	0	0	0	1	0	0	0	8092	1725	60	3	310	3	KCNT2	1	196227426	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3166618	196227426	53023195	73	144154											
F13B	2165	broad.mit.edu	37	chr1	197032148	197032148	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatagtaatattgggcaAttcttccattttccacatga	6	7	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:197032148A>C	uc001gtt.1	-	2	148	c.104T>G	c.(103-105)ATT>AGT	p.I35S		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	35	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ATATTGGGCAATTCTTCCATT	0.318													C	197032148	A	C	197032148	3	2	280	1	0	0	0	0	1	0	0	0	5341	101	4	5	1925	5	F13B	1	197032148	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	804722	197032148	52218473	74	144155											
ARL8A	127829	broad.mit.edu	37	chr1	202113660	202113660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctccttccagaataggGccttgaaccagtccagcagc	8	15	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:202113660G>A	uc001gxk.1	-	1	207	c.41C>T	c.(40-42)GCC>GTC	p.A14V		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	14					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			ovary(2)	2						CCAGAATAGGGCCTTGAACCA	0.667													A	202113660	G	A	202113660	3	1	280	1	0	0	0	0	1	0	0	0	946	1203	42	2	547	2	ARL8A	1	202113660	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	5081512	202113660	47136961	75	144156											
RABIF	5877	broad.mit.edu	37	chr1	202850209	202850209	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctgcgcagaccagaaacTtgatgttgcccacgtccttg	10	12	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:202850209T>G	uc001gyl.2	-	2	306	c.269A>C	c.(268-270)AAG>ACG	p.K90T		NM_002871	NP_002862	P47224	MSS4_HUMAN	RAB-interacting factor	90					cellular membrane fusion|protein transport|small GTPase mediated signal transduction		guanyl-nucleotide exchange factor activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GACCAGAAACTTGATGTTGCC	0.502													G	202850209	T	G	202850209	3	3	280	1	0	0	0	0	1	0	0	0	12969	1609	56	5	106	5	RABIF	1	202850209	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	736549	202850209	46400412	76	144157											
NFASC	23114	broad.mit.edu	37	chr1	204945865	204945865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaccagggcagttacacGtgtgtcgccagcaccgagct	14	13	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:204945865G>A	uc001hbj.2	+	16	2101	c.1773G>A	c.(1771-1773)ACG>ACA	p.T591T	NFASC_uc001hbh.2_Silent_p.T591T|NFASC_uc010pqz.1_Silent_p.T585T|NFASC_uc010pra.1_Silent_p.T602T|NFASC_uc001hbi.2_Silent_p.T602T|NFASC_uc010prb.1_Silent_p.T602T|NFASC_uc010prc.1_Silent_p.T158T|NFASC_uc001hbk.1_Silent_p.T412T	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	591	Extracellular (Potential).|Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			GCAGTTACACGTGTGTCGCCA	0.617													A	204945865	G	A	204945865	2	1	280	1	0	0	0	0	0	0	0	1	10359	1132	40	1		1	NFASC	1	204945865	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2095656	204945865	44304756	77	144158											
FAIM3	9214	broad.mit.edu	37	chr1	207087391	207087391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtaactgatccgcccAgctccccctctacctttact	6	16	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:207087391A>G	uc001hey.2	-	2	265	c.86T>C	c.(85-87)CTG>CCG	p.L29P	FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_5'UTR|FAIM3_uc010psb.1_Missense_Mutation_p.L29P	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	29	Extracellular (Potential).				anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)					TGATCCGCCCAGCTCCCCCTC	0.483													G	207087391	A	G	207087391	3	3	280	1	0	0	0	0	1	0	0	0	5377	188	7	3	1114	3	FAIM3	1	207087391	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2141526	207087391	42163230	78	144159											
PLXNA2	5362	broad.mit.edu	37	chr1	208315796	208315796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccaccatgggggggacCgtcggcccgaatctgtatga	14	13	1	1	rs147087031		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:208315796C>T	uc001hgz.2	-	4	2142	c.1384G>A	c.(1384-1386)GGT>AGT	p.G462S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	462	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGGGGGGACCGTCGGCCCGA	0.592													T	208315796	C	T	208315796	3	4	280	1	0	0	0	0	1	0	0	0	12120	652	23	1	4416	1	PLXNA2	1	208315796	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1228405	208315796	40934825	79	144160											
KCNH1	3756	broad.mit.edu	37	chr1	210977394	210977394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatccttttggcacctggTagagcttcaggaagtcccga	10	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:210977394T>C	uc001hib.2	-	8	1747	c.1577A>G	c.(1576-1578)TAC>TGC	p.Y526C	KCNH1_uc001hic.2_Missense_Mutation_p.Y499C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	526	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCACCTGGTAGAGCTTCAG	0.468													C	210977394	T	C	210977394	3	2	280	1	0	0	0	0	1	0	0	0	8031	1638	57	3	1408	3	KCNH1	1	210977394	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2661598	210977394	38273227	80	144161											
NEK2	4751	broad.mit.edu	37	chr1	211846962	211846962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attggctggtttcagatcccGatgcaatacggtatgaccac	10	10	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:211846962G>A	uc001hir.1	-	3	564	c.418C>T	c.(418-420)CGG>TGG	p.R140W	NEK2_uc001hiq.1_Missense_Mutation_p.R140W|NEK2_uc001his.3_Missense_Mutation_p.R140W|NEK2_uc001hit.1_RNA	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	140	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCAGATCCCGATGCAATACG	0.453													A	211846962	G	A	211846962	3	1	280	1	0	0	0	0	1	0	0	0	10324	1057	37	1	943	1	NEK2	1	211846962	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	869568	211846962	37403659	81	144162											
CENPF	1063	broad.mit.edu	37	chr1	214815439	214815439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcaatttgcaagacaTgcagtcacaagaaattagtg	8	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:214815439T>C	uc001hkm.2	+	12	3932	c.3758T>C	c.(3757-3759)ATG>ACG	p.M1253T		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGCAAGACATGCAGTCACAA	0.393													C	214815439	T	C	214815439	3	2	280	1	0	0	0	0	1	0	0	0	3231	1464	51	3	3800	3	CENPF	1	214815439	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2968477	214815439	34435182	82	144163											
KCNK2	3776	broad.mit.edu	37	chr1	215345501	215345501	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggttatcactctaacaacTattggatttggtgactacgt	9	7	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:215345501T>C	uc001hkq.2	+	5	967	c.798T>C	c.(796-798)ACT>ACC	p.T266T	KCNK2_uc001hko.2_Silent_p.T262T|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Silent_p.T251T	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	266							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CTCTAACAACTATTGGATTTG	0.413													C	215345501	T	C	215345501	2	2	280	1	0	0	0	0	0	0	0	1	8066	1509	53	3		3	KCNK2	1	215345501	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	530062	215345501	33905120	83	144164											
ESRRG	2104	broad.mit.edu	37	chr1	216680288	216680288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagcttttagtcagaccTtggcctccaacatttccaaa	8	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:216680288T>C	uc001hkw.1	-	7	1536	c.1370A>G	c.(1369-1371)AAG>AGG	p.K457R	ESRRG_uc001hky.1_Missense_Mutation_p.K434R|ESRRG_uc009xdp.1_Missense_Mutation_p.K434R|ESRRG_uc001hkz.1_Missense_Mutation_p.K395R|ESRRG_uc010puc.1_Missense_Mutation_p.K434R|ESRRG_uc001hla.1_Missense_Mutation_p.K434R|ESRRG_uc001hlb.1_Missense_Mutation_p.K434R|ESRRG_uc010pud.1_Missense_Mutation_p.K265R|ESRRG_uc001hlc.1_Missense_Mutation_p.K434R|ESRRG_uc001hld.1_Missense_Mutation_p.K434R|ESRRG_uc001hkx.1_Missense_Mutation_p.K469R|ESRRG_uc009xdo.1_Missense_Mutation_p.K434R	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	457					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			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TAGTCAGACCTTGGCCTCCAA	0.433													C	216680288	T	C	216680288	3	2	280	1	0	0	0	0	1	0	0	0	5262	1609	56	3	10	3	ESRRG	1	216680288	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1334787	216680288	32570333	84	144165											
SPATA17	128153	broad.mit.edu	37	chr1	217915421	217915421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcccgaaagatgcattAcctcctcagcacaaagcagg	8	14	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:217915421A>G	uc001hlh.1	+	6	526	c.500A>G	c.(499-501)TAC>TGC	p.Y167C	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Y167C	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	167						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAGATGCATTACCTCCTCAGC	0.483													G	217915421	A	G	217915421	3	3	280	1	0	0	0	0	1	0	0	0	15001	391	14	3	522	3	SPATA17	1	217915421	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1235133	217915421	31335200	85	144166											
C1orf115	79762	broad.mit.edu	37	chr1	220869994	220869994	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaggatgccgctacgtggTcatcggcctgcaaggcttcg	13	12	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:220869994T>C	uc001hmp.1	+	2	467	c.350T>C	c.(349-351)GTC>GCC	p.V117A		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	hypothetical protein LOC79762	117	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0273)		CGCTACGTGGTCATCGGCCTG	0.527													C	220869994	T	C	220869994	3	2	280	1	0	0	0	0	1	0	0	0	1988	1667	58	3	356	3	C1orf115	1	220869994	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2954573	220869994	28380627	86	144167											
ABCB10	23456	broad.mit.edu	37	chr1	229676394	229676394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaatgcctctttccttgCtaactgcattacatggtcca	8	12	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:229676394C>T	uc001htp.3	-	5	1205	c.1162G>A	c.(1162-1164)GCA>ACA	p.A388T		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	388	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCTTTCCTTGCTAACTGCATT	0.403													T	229676394	C	T	229676394	3	4	280	1	0	0	0	0	1	0	0	0	41	797	28	2	1090	2	ABCB10	1	229676394	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8806400	229676394	19574227	87	144168											
TSNAX	7257	broad.mit.edu	37	chr1	231700443	231700443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtgagccagtttttacGtcaggtttatgatgggtttt	12	4	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:231700443G>A	uc001huw.2	+	6	823	c.665G>A	c.(664-666)CGT>CAT	p.R222H	TSNAX-DISC1_uc010pwe.1_Intron|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_Intron|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_Intron|TSNAX-DISC1_uc010pwk.1_Intron|TSNAX-DISC1_uc010pwl.1_Intron	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	translin-associated factor X	222					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding				0		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CAGTTTTTACGTCAGGTTTAT	0.438													A	231700443	G	A	231700443	3	1	280	1	0	0	0	0	1	0	0	0	16628	1145	40	1	687	1	TSNAX	1	231700443	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2024049	231700443	17550178	88	144169											
C1orf57	84284	broad.mit.edu	37	chr1	233092116	233092116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctccacctggaaaacGtgaatgccgagttgggcagt	13	10	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:233092116G>A	uc001hvj.1	+	3	308	c.221G>A	c.(220-222)CGT>CAT	p.R74H	C1orf57_uc001hvi.2_Missense_Mutation_p.R74H|C1orf57_uc009xft.1_RNA	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	74							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)				CCTGGAAAACGTGAATGCCGA	0.443													A	233092116	G	A	233092116	3	1	280	1	0	0	0	0	1	0	0	0	2049	1145	40	1	231	1	C1orf57	1	233092116	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1391673	233092116	16158505	89	144170											
SLC35F3	148641	broad.mit.edu	37	chr1	234452411	234452411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacgctgatggcttccacAgccactccgtcatcggcatc	8	17	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:234452411A>G	uc001hwa.1	+	4	913	c.685A>G	c.(685-687)AGC>GGC	p.S229G	SLC35F3_uc001hvy.1_Missense_Mutation_p.S298G	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	229					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGCTTCCACAGCCACTCCGT	0.587													G	234452411	A	G	234452411	3	3	280	1	0	0	0	0	1	0	0	0	14590	188	7	3	910	3	SLC35F3	1	234452411	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1360295	234452411	14798210	90	144171											
SLC35F3	148641	broad.mit.edu	37	chr1	234454627	234454627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactttaccaaagtggaatActggagctcttttgatgaca	8	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:234454627A>G	uc001hwa.1	+	5	1106	c.878A>G	c.(877-879)TAC>TGC	p.Y293C	SLC35F3_uc001hvy.1_Missense_Mutation_p.Y362C	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	293					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAAGTGGAATACTGGAGCTCT	0.403													G	234454627	A	G	234454627	3	3	280	1	0	0	0	0	1	0	0	0	14590	391	14	3	1107	3	SLC35F3	1	234454627	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2216	234454627	14795994	91	144172											
LYST	1130	broad.mit.edu	37	chr1	235976350	235976350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaggagttcttctctAcatgtcaatgcctatgtcag	9	9	5	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:235976350A>G	uc001hxj.2	-	4	379	c.204T>C	c.(202-204)TGT>TGC	p.C68C	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.C68C	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	68					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			GTTCTTCTCTACATGTCAATG	0.393									Chediak-Higashi_syndrome				G	235976350	A	G	235976350	2	3	280	1	0	0	0	0	0	0	0	1	9128	389	14	3		3	LYST	1	235976350	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1521723	235976350	13274271	92	144173											
KMO	8564	broad.mit.edu	37	chr1	241731935	241731935	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtgccgttttttgggcaAggaatgaatgcggtaagttc	13	5	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:241731935A>G	uc009xgp.2	+	10	1010	c.945A>G	c.(943-945)CAA>CAG	p.Q315Q	KMO_uc001hyy.2_Silent_p.Q315Q|KMO_uc009xgo.1_Silent_p.Q315Q	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	315					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTTTTGGGCAAGGAATGAATG	0.418													G	241731935	A	G	241731935	2	3	280	1	0	0	0	0	0	0	0	1	8424	69	3	3		3	KMO	1	241731935	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5755585	241731935	7518686	93	144174											
EXO1	9156	broad.mit.edu	37	chr1	242035442	242035442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgagcttttctgaagtgtTtgtgcctgacctggtaaatg	11	6	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:242035442T>C	uc001hzh.2	+	12	1916	c.1376T>C	c.(1375-1377)TTT>TCT	p.F459S	EXO1_uc001hzi.2_Missense_Mutation_p.F459S|EXO1_uc001hzj.2_Missense_Mutation_p.F459S|EXO1_uc009xgq.2_Missense_Mutation_p.F458S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	459	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCTGAAGTGTTTGTGCCTGAC	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases					C	242035442	T	C	242035442	3	2	280	1	0	0	0	0	1	0	0	0	5300	1841	64	3	1410	3	EXO1	1	242035442	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	303507	242035442	7215179	94	144175											
C1orf101	257044	broad.mit.edu	37	chr1	244715941	244715941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagtgatgatgaaagacGgagtgtggctcatgtgatct	14	5	3	6			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:244715941G>A	uc001iam.2	+	9	913	c.854G>A	c.(853-855)CGG>CAG	p.R285Q	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.R285Q|C1orf101_uc010pym.1_Missense_Mutation_p.R134Q|C1orf101_uc010pyn.1_Missense_Mutation_p.R218Q	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	285	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	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)			GATGAAAGACGGAGTGTGGCT	0.408													A	244715941	G	A	244715941	3	1	280	1	0	0	0	0	1	0	0	0	1976	1116	39	1	888	1	C1orf101	1	244715941	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2680499	244715941	4534680	95	144176											
AHCTF1	25909	broad.mit.edu	37	chr1	247063505	247063505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttacaacagactccaatgAccacagtgcaaaataagagc	6	11	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:247063505A>G	uc001ibu.1	-	9	1301	c.1294T>C	c.(1294-1296)TCA>CCA	p.S432P	AHCTF1_uc001ibv.1_Missense_Mutation_p.S441P|AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	432	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			ovary(5)|skin(2)	7	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)			GACTCCAATGACCACAGTGCA	0.358													G	247063505	A	G	247063505	3	3	280	1	0	0	0	0	1	0	0	0	408	275	10	3	5614	3	AHCTF1	1	247063505	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2347564	247063505	2187116	96	144177											
OR2W5	441932	broad.mit.edu	37	chr1	247655067	247655067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctggtgccgctctccCtcatcctcatctcctatggc	6	19	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:247655067C>A	uc001icz.1	+	1	638	c.638C>A	c.(637-639)CCT>CAT	p.P213H		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	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)			GCCGCTCTCCCTCATCCTCAT	0.567													A	247655067	C	A	247655067	3	1	280	1	0	0	0	0	1	0	0	0	11034	681	24	5	640	5	OR2W5	1	247655067	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	591562	247655067	1595554	97	144178											
OR2L8	391190	broad.mit.edu	37	chr1	248112987	248112987	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacaaggttctggctgtcttCtacaccatcctcaccccaat	6	15	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr1:248112987C>G	uc001idt.1	+	1	828	c.828C>G	c.(826-828)TTC>TTG	p.F276L	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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)			TGGCTGTCTTCTACACCATCC	0.498													G	248112987	C	G	248112987	3	3	280	1	0	0	0	0	1	0	0	0	11009	912	32	5	830	5	OR2L8	1	248112987	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	457920	248112987	1137634	98	144179											
MYT1L	23040	broad.mit.edu	37	chr2	1893203	1893203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggcctctgcttgttcAtgctgaggtccagggtcccg	13	15	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:1893203A>G	uc002qxe.2	-	16	3157	c.2330T>C	c.(2329-2331)ATG>ACG	p.M777T	MYT1L_uc002qxd.2_Missense_Mutation_p.M775T|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	777					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	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)		CTGCTTGTTCATGCTGAGGTC	0.597													G	1893203	A	G	1893203	3	3	280	1	0	0	0	0	1	0	0	0	10107	217	8	3	1270	3	MYT1L	2	1893203	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		1893203	241306170	99	144180											
ASAP2	8853	broad.mit.edu	37	chr2	9437519	9437519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccagatttaggaagtgCgttcctgaagttctcagtgt	11	8	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:9437519C>T	uc002qzh.2	+	3	630	c.290C>T	c.(289-291)GCG>GTG	p.A97V	ASAP2_uc002qzi.2_Missense_Mutation_p.A97V	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	97					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						TTAGGAAGTGCGTTCCTGAAG	0.468													T	9437519	C	T	9437519	3	4	280	1	0	0	0	0	1	0	0	0	1011	768	27	1	300	1	ASAP2	2	9437519	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7544316	9437519	233761854	100	144181											
KCNF1	3754	broad.mit.edu	37	chr2	11053714	11053714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggcaagctcaacgcgGccatcagcttcttgtgtggt	13	12	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:11053714G>A	uc002rax.2	+	1	1652	c.1162G>A	c.(1162-1164)GCC>ACC	p.A388T		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	388	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCTCAACGCGGCCATCAGCTT	0.582													A	11053714	G	A	11053714	3	1	280	1	0	0	0	0	1	0	0	0	8026	1203	42	2	1164	2	KCNF1	2	11053714	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1616195	11053714	232145659	101	144182											
DDX1	1653	broad.mit.edu	37	chr2	15760451	15760451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgttccagatactgtacaCcatgttgttgtcccagtaaa	7	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:15760451C>A	uc002rce.2	+	17	1614	c.1326C>A	c.(1324-1326)CAC>CAA	p.H442Q	DDX1_uc010yjq.1_Missense_Mutation_p.H350Q	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	442	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			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	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)		ATACTGTACACCATGTTGTTG	0.378													A	15760451	C	A	15760451	3	1	280	1	0	0	0	0	1	0	0	0	4341	506	18	5	1392	5	DDX1	2	15760451	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4706737	15760451	227438922	102	144183											
GEN1	348654	broad.mit.edu	37	chr2	17961984	17961984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtgaaatctttcataAgcagaattccaagttaaatt	5	7	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:17961984A>G	uc002rct.2	+	14	1578	c.1505A>G	c.(1504-1506)AAG>AGG	p.K502R	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.K502R|GEN1_uc002rcu.2_Missense_Mutation_p.K502R	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	502					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTTTCATAAGCAGAATTCC	0.363								Homologous_recombination					G	17961984	A	G	17961984	3	3	280	1	0	0	0	0	1	0	0	0	6335	72	3	3	1555	3	GEN1	2	17961984	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2201533	17961984	225237389	103	144184											
MATN3	4148	broad.mit.edu	37	chr2	20196998	20196998	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctggcaaccatgagaGcctagggcacacttgtcacg	12	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:20196998G>T	uc002rdl.2	-	6	1254	c.1191C>A	c.(1189-1191)GGC>GGA	p.G397G	MATN3_uc010exu.1_Silent_p.G355G	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	397	EGF-like 4.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCATGAGAGCCTAGGGCAC	0.453													T	20196998	G	T	20196998	2	4	280	1	0	0	0	0	0	0	0	1	9335	958	34	5		5	MATN3	2	20196998	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2235014	20196998	223002375	104	144185											
PUM2	23369	broad.mit.edu	37	chr2	20511377	20511377	+	Frame_Shift_Del	DEL	T	T	-													tcaaatggagaagccttgccTttttgatctcctttctcagg					rs34931937		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:20511376_20511376CT>C	uc002rds.1	-	3	415	c.397_397AG>G	c.(397-399)ggcfs	p.G133fs	PUM2_uc002rdt.1_Frame_Shift_Del_p.G133fs|PUM2_uc002rdr.2_Frame_Shift_Del_p.G72fs|PUM2_uc010yjy.1_Frame_Shift_Del_p.G133fs|PUM2_uc002rdu.1_Frame_Shift_Del_p.G133fs|PUM2_uc010yjz.1_Frame_Shift_Del_p.G72fs	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	133	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein 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)					GAAGCCTTGCCTTTTTGATCT	0.373													-	20511377	T	-	20511377	7	5	280	1	0	1	0	1	0	0	0	0	12826	1606	56	0	2866	0	PUM2	2	20511377	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	314379	20511377	222687996	105	144186											
C2orf39	92749	broad.mit.edu	37	chr2	26672938	26672938	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctatctgctgaggctGgatgccatcttctccgtgag	12	10	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:26672938G>T	uc002rhg.2	+	12	1658	c.1584G>T	c.(1582-1584)CTG>CTT	p.L528L		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	528											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGAGGCTGGATGCCATCT	0.612													T	26672938	G	T	26672938	2	4	280	1	0	0	0	0	0	0	0	1	2164	1335	47	5		5	C2orf39	2	26672938	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6161561	26672938	216526435	106	144187											
TCF23	150921	broad.mit.edu	37	chr2	27373194	27373194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctggccctgcctggccGcccttcctgcgtggactccg	12	18	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:27373194G>A	uc010ylg.1	+	2	426	c.426G>A	c.(424-426)CCG>CCA	p.P142P		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	transcription factor 23	142					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCCTGGCCGCCCTTCCTGC	0.622													A	27373194	G	A	27373194	2	1	280	1	0	0	0	0	0	0	0	1	15689	1074	38	1		1	TCF23	2	27373194	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	700256	27373194	215826179	107	144188											
MPV17	4358	broad.mit.edu	37	chr2	27535602	27535602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtgccagggatgaacCgatccaaaaccttgtaccag	12	10	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:27535602C>T	uc002rjr.2	-	3	271	c.224G>A	c.(223-225)CGG>CAG	p.R75Q	MPV17_uc002rjq.2_Missense_Mutation_p.R75Q|MPV17_uc002rjs.2_Missense_Mutation_p.R75Q|MPV17_uc002rjt.2_RNA	NM_002437	NP_002428	P39210	MPV17_HUMAN	Mpv17 protein	75					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGATGAACCGATCCAAAAC	0.557													T	27535602	C	T	27535602	3	4	280	1	0	0	0	0	1	0	0	0	9745	652	23	1	326	1	MPV17	2	27535602	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	162408	27535602	215663771	108	144189											
IFT172	26160	broad.mit.edu	37	chr2	27681051	27681051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctgagtgatgtataGcactgacacatcttctggtc	11	10	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:27681051G>A	uc002rku.2	-	27	2968	c.2917C>T	c.(2917-2919)CTA>TTA	p.L973L		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	973	TPR 7.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					GTGATGTATAGCACTGACACA	0.552													A	27681051	G	A	27681051	2	1	280	1	0	0	0	0	0	0	0	1	7557	962	34	2		2	IFT172	2	27681051	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	145449	27681051	215518322	109	144190											
IFT172	26160	broad.mit.edu	37	chr2	27684212	27684212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttggctagcagttcctctCgggtcagcaccagccgagca	12	13	2	0	rs148237432		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:27684212C>T	uc002rku.2	-	22	2417	c.2366G>A	c.(2365-2367)CGA>CAA	p.R789Q		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	789					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CAGTTCCTCTCGGGTCAGCAC	0.567													T	27684212	C	T	27684212	3	4	280	1	0	0	0	0	1	0	0	0	7557	884	31	1	2991	1	IFT172	2	27684212	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3161	27684212	215515161	110	144191											
FAM179A	165186	broad.mit.edu	37	chr2	29240782	29240782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccctgcccagcatcccCatcagccggcaggagccccg	10	21	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:29240782C>T	uc010ezl.2	+	10	1671	c.1320C>T	c.(1318-1320)CCC>CCT	p.P440P	FAM179A_uc010ymm.1_Intron|FAM179A_uc002rmr.3_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	440							binding			ovary(3)|skin(1)	4						CCAGCATCCCCATCAGCCGGC	0.682													T	29240782	C	T	29240782	2	4	280	1	0	0	0	0	0	0	0	1	5505	581	21	4		4	FAM179A	2	29240782	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1556570	29240782	213958591	111	144192											
CLIP4	79745	broad.mit.edu	37	chr2	29404451	29404451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcacagatcgaaagctgctTtgcgtcgcagttggagcagc	13	11	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:29404451T>C	uc002rmv.2	+	16	2049	c.1810T>C	c.(1810-1812)TTG>CTG	p.L604L	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	604										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GAAAGCTGCTTTGCGTCGCAG	0.517													C	29404451	T	C	29404451	2	2	280	1	0	0	0	0	0	0	0	1	3535	1838	64	3		3	CLIP4	2	29404451	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	163669	29404451	213794922	112	144193											
SPAST	6683	broad.mit.edu	37	chr2	32339883	32339883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggatctggtcctgctcctAccactcataaggtattctgg	10	11	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:32339883A>G	uc002roc.2	+	5	1080	c.859A>G	c.(859-861)ACC>GCC	p.T287A	SPAST_uc002rod.2_Missense_Mutation_p.T255A	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	287	Required for interaction with RTN1.|Required for interaction with microtubules and microtubule severing.|Sufficient for microtubule severing.|Sufficient for interaction with microtubules.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCTCCTACCACTCATAA	0.403													G	32339883	A	G	32339883	3	3	280	1	0	0	0	0	1	0	0	0	14996	391	14	3	877	3	SPAST	2	32339883	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2935432	32339883	210859490	113	144194											
YIPF4	84272	broad.mit.edu	37	chr2	32515676	32515676	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctggaagttgaagaTgatgatcctgaagataacaa	11	5	1	6			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:32515676T>C	uc002rok.2	+	2	471	c.204T>C	c.(202-204)GAT>GAC	p.D68D		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	68						endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)					AAGTTGAAGATGATGATCCTG	0.323													C	32515676	T	C	32515676	2	2	280	1	0	0	0	0	0	0	0	1	17477	1461	51	3		3	YIPF4	2	32515676	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	175793	32515676	210683697	114	144195											
BIRC6	57448	broad.mit.edu	37	chr2	32668623	32668623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaggctttacttgatAatatgtcatttttacctgca	7	6	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:32668623A>G	uc010ezu.2	+	20	4437	c.4303A>G	c.(4303-4305)AAT>GAT	p.N1435D		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1435					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTTACTTGATAATATGTCATT	0.308													G	32668623	A	G	32668623	3	3	280	1	0	0	0	0	1	0	0	0	1438	362	13	3	4381	3	BIRC6	2	32668623	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	152947	32668623	210530750	115	144196											
STRN	6801	broad.mit.edu	37	chr2	37088308	37088308	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcgatgttgggattagTggtattccagccctggatca	15	7	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:37088308T>A	uc002rpn.2	-	13	1645	c.1636A>T	c.(1636-1638)ACT>TCT	p.T546S	STRN_uc010ezx.2_Missense_Mutation_p.T509S	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	546	WD 2.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTGGGATTAGTGGTATTCCAG	0.408													A	37088308	T	A	37088308	3	1	280	1	0	0	0	0	1	0	0	0	15328	1696	59	5	730	5	STRN	2	37088308	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4419685	37088308	206111065	116	144197											
STRN	6801	broad.mit.edu	37	chr2	37126678	37126678	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactcactgttgaagtatcAatgacgcttttctctcttcc	5	11	4	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:37126678A>G	uc002rpn.2	-	6	792	c.783T>C	c.(781-783)ATT>ATC	p.I261I	STRN_uc010ezx.2_Silent_p.I261I	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	261					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTGAAGTATCAATGACGCTTT	0.333													G	37126678	A	G	37126678	2	3	280	1	0	0	0	0	0	0	0	1	15328	126	5	3		3	STRN	2	37126678	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	38370	37126678	206072695	117	144198											
CEBPZ	10153	broad.mit.edu	37	chr2	37441037	37441037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaattcttcatcatccaCgtcttctatactttcttcat	1	12	8	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:37441037C>T	uc002rpz.2	-	10	2545	c.2515G>A	c.(2515-2517)GTG>ATG	p.V839M		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	839					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TCATCATCCACGTCTTCTATA	0.289													T	37441037	C	T	37441037	3	4	280	1	0	0	0	0	1	0	0	0	3204	536	19	1	677	1	CEBPZ	2	37441037	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	314359	37441037	205758336	118	144199											
CEBPZ	10153	broad.mit.edu	37	chr2	37454737	37454737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtctgctgagaattcatTacttggaaaagcaacattaa	7	6	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:37454737T>C	uc002rpz.2	-	2	1629	c.1599A>G	c.(1597-1599)GTA>GTG	p.V533V		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	533					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				GAGAATTCATTACTTGGAAAA	0.353													C	37454737	T	C	37454737	2	2	280	1	0	0	0	0	0	0	0	1	3204	1741	61	3		3	CEBPZ	2	37454737	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	13700	37454737	205744636	119	144200											
PRKD3	23683	broad.mit.edu	37	chr2	37513366	37513366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctttcagtaaccgcttGcagtactgacatatcgtggg	11	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:37513366G>A	uc002rqd.2	-	5	1419	c.864C>T	c.(862-864)TGC>TGT	p.C288C	PRKD3_uc002rqf.1_Silent_p.C288C	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	288	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GTAACCGCTTGCAGTACTGAC	0.413													A	37513366	G	A	37513366	2	1	280	1	0	0	0	0	0	0	0	1	12520	1311	46	2		2	PRKD3	2	37513366	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	58629	37513366	205686007	120	144201											
PREPL	9581	broad.mit.edu	37	chr2	44586851	44586851	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataatttggtcttctgctGcatgatatcaaagtccctgg	8	8	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:44586851G>A	uc002ruf.2	-	1	39	c.4C>T	c.(4-6)CAG>TAG	p.Q2*	PREPL_uc002rug.2_Nonsense_Mutation_p.Q2*|PREPL_uc002ruh.2_Nonsense_Mutation_p.Q2*|PREPL_uc010fax.2_Nonsense_Mutation_p.Q2*|PREPL_uc002rui.3_Intron|PREPL_uc002ruj.1_Intron|PREPL_uc002ruk.1_Nonsense_Mutation_p.Q2*|C2orf34_uc002rum.2_5'Flank|C2orf34_uc002rul.2_5'Flank	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	2					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTCTTCTGCTGCATGATATCA	0.398													A	44586851	G	A	44586851	4	1	280	1	0	0	0	0	0	1	0	0	12475	1328	46	2	2235	2	PREPL	2	44586851	Nonsense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	7073485	44586851	198612522	121	144202											
NRXN1	9378	broad.mit.edu	37	chr2	51253569	51253569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttggtcattgtcatgtaAcagcaccggcaaaacacact	7	12	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:51253569A>C	uc010fbq.2	-	3	2288	c.811T>G	c.(811-813)TTA>GTA	p.L271V	NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxd.1_Intron	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGTCATGTAACAGCACCGGC	0.373													C	51253569	A	C	51253569	3	2	280	1	0	0	0	0	1	0	0	0	10665	40	2	5	4183	5	NRXN1	2	51253569	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	6666718	51253569	191945804	122	144203											
ASB3	51130	broad.mit.edu	37	chr2	53992602	53992602	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccctgttatcagcaacatcGacacttcggccctttttgag	7	14	1	1	rs147895055		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:53992602G>C	uc002rxg.1	-	2	243	c.108C>G	c.(106-108)GTC>GTG	p.V36V	ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Silent_p.V74V|ASB3_uc010yoo.1_Silent_p.V36V|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	36	ANK 1.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAGCAACATCGACACTTCGGC	0.428													C	53992602	G	C	53992602	2	2	280	1	0	0	0	0	0	0	0	1	1024	1045	37	5		5	ASB3	2	53992602	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2739033	53992602	189206771	123	144204											
PNPT1	87178	broad.mit.edu	37	chr2	55908054	55908054	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaacagattacacagaacCtggtaaaagggaaaaaattt	8	6	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:55908054C>A	uc002rzf.2	-	6	507	c.454_splice	c.e6-1	p.V152_splice	PNPT1_uc002rzg.2_Splice_Site	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACACAGAACCTGGTAAAAGG	0.299													A	55908054	C	A	55908054	5	1	280	1	0	0	0	0	0	0	1	0	12173	695	24	5	1990	5	PNPT1	2	55908054	Splice_Site	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1915452	55908054	187291319	124	144205											
BCL11A	53335	broad.mit.edu	37	chr2	60688122	60688122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggccgggggcaggtcgAactccttctcgagcttgatg	15	12	1	1	rs146235767		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:60688122A>G	uc002sae.1	-	4	2153	c.1925T>C	c.(1924-1926)TTC>TCC	p.F642S	BCL11A_uc002sab.2_Missense_Mutation_p.F642S|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.F311S|BCL11A_uc010ypj.1_Missense_Mutation_p.F608S|BCL11A_uc002sad.1_Missense_Mutation_p.F490S|BCL11A_uc002saf.1_Missense_Mutation_p.F608S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	642					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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGCAGGTCGAACTCCTTCTC	0.662			T	IGH@	B-CLL								G	60688122	A	G	60688122	3	3	280	1	0	0	0	0	1	0	0	0	1363	246	9	3	692	3	BCL11A	2	60688122	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4780068	60688122	182511251	125	144206											
USP34	9736	broad.mit.edu	37	chr2	61571087	61571088	+	Frame_Shift_Ins	INS	-	-	T													accatcaaaatcagccatatINSttttttctgattttgcacta							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:61571086_61571087A>AT	uc002sbe.3	-	15	2385_2386	c.2363_2364T>AT	c.(2362-2364)aatfs	p.N788fs		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	788					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		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)			AATCAGCCATATTTTTTTCTGA	0.401													T	61571088	-	T	61571087	7	5	280	1	0	1	1	0	0	0	0	0	17062	1493	52	0	8537	0	USP34	2	61571087	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	882965	61571087	181628286	126	144207											
B3GNT2	10678	broad.mit.edu	37	chr2	62450292	62450292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggggttcctctactccGgccacctggccctgaggctg	15	14	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:62450292G>A	uc002sbs.2	+	2	1175	c.937G>A	c.(937-939)GGC>AGC	p.G313S		NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	313	Lumenal (Potential).					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CCTCTACTCCGGCCACCTGGC	0.537													A	62450292	G	A	62450292	3	1	280	1	0	0	0	0	1	0	0	0	1257	1116	39	1	939	1	B3GNT2	2	62450292	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	879205	62450292	180749081	127	144208											
EHBP1	23301	broad.mit.edu	37	chr2	63091876	63091876	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattttatagaacctatcacTgaaacagcttcacctagaaa	4	9	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:63091876T>C	uc002sby.2	+	10	1355	c.873T>C	c.(871-873)ACT>ACC	p.T291T	EHBP1_uc010fcp.2_Silent_p.T256T|EHBP1_uc002sbx.2_Silent_p.T256T|EHBP1_uc002sbz.2_Silent_p.T256T|EHBP1_uc002scb.2_Silent_p.T256T	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	291						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AACCTATCACTGAAACAGCTT	0.303									Hereditary_Prostate_Cancer				C	63091876	T	C	63091876	2	2	280	1	0	0	0	0	0	0	0	1	4975	1567	55	3		3	EHBP1	2	63091876	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	641584	63091876	180107497	128	144209											
ATP6V1B1	525	broad.mit.edu	37	chr2	71185198	71185198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagtatgcggagatcgTccacttcaccctcccagatg	9	15	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:71185198T>C	uc002shj.2	+	3	284	c.197T>C	c.(196-198)GTC>GCC	p.V66A	ATP6V1B1_uc002shi.1_Missense_Mutation_p.V66A|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.V66A|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.V24A	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	66					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			skin(1)	1						GCGGAGATCGTCCACTTCACC	0.612													C	71185198	T	C	71185198	3	2	280	1	0	0	0	0	1	0	0	0	1178	1667	58	3	207	3	ATP6V1B1	2	71185198	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	8093322	71185198	172014175	129	144210											
CYP26B1	56603	broad.mit.edu	37	chr2	72371240	72371240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcccatgaggatcttgcGcacgttctccgcgccggtca	11	16	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:72371240G>A	uc002sih.1	-	2	307	c.307C>T	c.(307-309)CGC>TGC	p.R103C	CYP26B1_uc010yra.1_Missense_Mutation_p.R86C|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	103					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			skin(2)	2						AGGATCTTGCGCACGTTCTCC	0.622													A	72371240	G	A	72371240	3	1	280	1	0	0	0	0	1	0	0	0	4156	1087	38	1	1251	1	CYP26B1	2	72371240	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1186042	72371240	170828133	130	144211											
ALMS1	7840	broad.mit.edu	37	chr2	73777450	73777450	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtgctaggcacaagagatGatgacctctcagccactgtt	11	10	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:73777450G>A	uc002sje.1	+	15	10078	c.9967G>A	c.(9967-9969)GAT>AAT	p.D3323N	ALMS1_uc002sjf.1_Missense_Mutation_p.D3279N|ALMS1_uc002sjg.2_Missense_Mutation_p.D2709N|ALMS1_uc002sjh.1_Missense_Mutation_p.D2709N|ALMS1_uc010fev.1_Intron	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3321					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						CACAAGAGATGATGACCTCTC	0.443													A	73777450	G	A	73777450	3	1	280	1	0	0	0	0	1	0	0	0	535	1290	45	4	10011	4	ALMS1	2	73777450	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1406210	73777450	169421923	131	144212											
HK2	3099	broad.mit.edu	37	chr2	75100464	75100464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaggcagagacgttgTggctctgatccggaaggcca	16	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:75100464T>C	uc002snd.2	+	5	2483	c.557T>C	c.(556-558)GTG>GCG	p.V186A		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	186	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						AGAGACGTTGTGGCTCTGATC	0.552													C	75100464	T	C	75100464	3	2	280	1	0	0	0	0	1	0	0	0	7191	1696	59	3	575	3	HK2	2	75100464	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1323014	75100464	168098909	132	144213											
HK2	3099	broad.mit.edu	37	chr2	75112659	75112659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaggcttcaaggcatcTggctgcgagggcgaggacgt	15	9	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:75112659T>G	uc002snd.2	+	13	3804	c.1878T>G	c.(1876-1878)TCT>TCG	p.S626S		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	626	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						TCAAGGCATCTGGCTGCGAGG	0.557													G	75112659	T	G	75112659	2	3	280	1	0	0	0	0	0	0	0	1	7191	1567	55	5		5	HK2	2	75112659	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	12195	75112659	168086714	133	144214											
USP39	10713	broad.mit.edu	37	chr2	85848665	85848665	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctccctctcacacatcaaTgcttatgcctgtctggtgtg	7	13	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:85848665T>C	uc002sqe.2	+	3	432	c.396T>C	c.(394-396)AAT>AAC	p.N132N	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Silent_p.N54N|USP39_uc010ysv.1_Intron|USP39_uc010fgn.1_Silent_p.N132N|USP39_uc002sqf.2_Silent_p.N132N|USP39_uc002sqg.2_Silent_p.N132N|USP39_uc010fgo.2_Silent_p.N132N	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	132	UBP-type.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						CACACATCAATGCTTATGCCT	0.373													C	85848665	T	C	85848665	2	2	280	1	0	0	0	0	0	0	0	1	17067	1461	51	3		3	USP39	2	85848665	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	10736006	85848665	157350708	134	144215											
ASTL	431705	broad.mit.edu	37	chr2	96798424	96798424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcgccagggagaccacCtgcatccctccactgcgccc	12	18	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:96798424C>A	uc010yui.1	-	6	492	c.492G>T	c.(490-492)CAG>CAT	p.Q164H		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	164					proteolysis		metalloendopeptidase activity|zinc ion binding				0						GGGAGACCACCTGCATCCCTC	0.637													A	96798424	C	A	96798424	3	1	280	1	0	0	0	0	1	0	0	0	1063	680	24	5	818	5	ASTL	2	96798424	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	10949759	96798424	146400949	135	144216											
ZAP70	7535	broad.mit.edu	37	chr2	98340736	98340736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcaaagcgcactgtggAccggcagagctctgcgagtt	16	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:98340736A>G	uc002syd.1	+	3	444	c.237A>G	c.(235-237)GGA>GGG	p.G79G	ZAP70_uc010yvf.1_Silent_p.G79G|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	79	SH2 1.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CGCACTGTGGACCGGCAGAGC	0.682													G	98340736	A	G	98340736	2	3	280	1	0	0	0	0	0	0	0	1	17511	262	10	3		3	ZAP70	2	98340736	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1542312	98340736	144858637	136	144217											
GPR45	11250	broad.mit.edu	37	chr2	105858502	105858502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcatcgtgtaccagaggCcggctatgcgctcggccatc	12	14	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:105858502C>T	uc002tco.1	+	1	303	c.187C>T	c.(187-189)CCG>TCG	p.P63S		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GTACCAGAGGCCGGCTATGCG	0.622													T	105858502	C	T	105858502	3	4	280	1	0	0	0	0	1	0	0	0	6696	739	26	2	189	2	GPR45	2	105858502	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7517766	105858502	137340871	137	144218											
RANBP2	5903	broad.mit.edu	37	chr2	109383234	109383234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgcgaagagaacaagTactaaaagtgtgtgctaatc	11	6	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:109383234T>C	uc002tem.3	+	20	6365	c.6239T>C	c.(6238-6240)GTA>GCA	p.V2080A		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2080	RanBD1 2.				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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						AGAGAACAAGTACTAAAAGTG	0.428													C	109383234	T	C	109383234	3	2	280	1	0	0	0	0	1	0	0	0	13028	1638	57	3	6317	3	RANBP2	2	109383234	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3524732	109383234	133816139	138	144219											
BUB1	699	broad.mit.edu	37	chr2	111423901	111423901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaccacctgatgcaacTtcttatgaagttcatccatt	4	13	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:111423901T>G	uc002tgc.2	-	9	1008	c.896A>C	c.(895-897)AAG>ACG	p.K299T	BUB1_uc010yxh.1_Missense_Mutation_p.K279T|BUB1_uc010fkb.2_Missense_Mutation_p.K299T|BUB1_uc002tgd.2_Missense_Mutation_p.K299T	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	299					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			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTGATGCAACTTCTTATGAAG	0.428													G	111423901	T	G	111423901	3	3	280	1	0	0	0	0	1	0	0	0	1570	1609	56	5	2429	5	BUB1	2	111423901	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2040667	111423901	131775472	139	144220											
CLASP1	23332	broad.mit.edu	37	chr2	122125256	122125256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctgagtaggggtacgggTtgtagtctcgcgcccgcggc	16	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:122125256T>C	uc002tnc.2	-	34	4184	c.3794A>G	c.(3793-3795)AAC>AGC	p.N1265S	CLASP1_uc010yyv.1_Missense_Mutation_p.N311S|CLASP1_uc002tmz.2_Missense_Mutation_p.N350S|CLASP1_uc002tna.2_Missense_Mutation_p.N311S|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.N1206S|CLASP1_uc010yza.1_Missense_Mutation_p.N1198S|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.N101S|CLASP1_uc002tnf.2_Missense_Mutation_p.N167S	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1265	Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity).				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			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					GGGGTACGGGTTGTAGTCTCG	0.592													C	122125256	T	C	122125256	3	2	280	1	0	0	0	0	1	0	0	0	3454	1725	60	3	846	3	CLASP1	2	122125256	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	10701355	122125256	121074117	140	144221											
LCT	3938	broad.mit.edu	37	chr2	136566638	136566638	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgatgacggcgtgggcTatcctatatggtgcccagcc	13	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:136566638T>G	uc002tuu.1	-	8	3290	c.3279A>C	c.(3277-3279)ATA>ATC	p.I1093I		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1093	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGGCGTGGGCTATCCTATATG	0.547													G	136566638	T	G	136566638	2	3	280	1	0	0	0	0	0	0	0	1	8693	1512	53	5		5	LCT	2	136566638	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	14441382	136566638	106632735	141	144222											
SPOPL	339745	broad.mit.edu	37	chr2	139316684	139316684	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtctagcagaagatttaggTaatctctgggaaaacacaag	10	7	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:139316684T>A	uc002tvh.2	+	6	973	c.573T>A	c.(571-573)GGT>GGA	p.G191G		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	191						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AAGATTTAGGTAATCTCTGGG	0.368													A	139316684	T	A	139316684	2	1	280	1	0	0	0	0	0	0	0	1	15084	1625	57	5		5	SPOPL	2	139316684	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2750046	139316684	103882689	142	144223											
NXPH2	11249	broad.mit.edu	37	chr2	139428686	139428686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcaaagttgcacagggCggtctttttcgcccgatctg	13	10	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:139428686C>T	uc002tvi.2	-	2	601	c.601G>A	c.(601-603)GCC>ACC	p.A201T		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	201	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		TTGCACAGGGCGGTCTTTTTC	0.468													T	139428686	C	T	139428686	3	4	280	1	0	0	0	0	1	0	0	0	10791	768	27	1	197	1	NXPH2	2	139428686	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	112002	139428686	103770687	143	144224											
LRP1B	53353	broad.mit.edu	37	chr2	141055405	141055405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgtctccggtgtattcCggctggcagtggcagtaagg	14	10	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:141055405C>T	uc002tvj.1	-	84	13911	c.12939G>A	c.(12937-12939)CCG>CCA	p.P4313P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4313	Extracellular (Potential).|EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CGGTGTATTCCGGCTGGCAGT	0.448										TSP Lung(27;0.18)			T	141055405	C	T	141055405	2	4	280	1	0	0	0	0	0	0	0	1	8955	639	23	1		1	LRP1B	2	141055405	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1626719	141055405	102143968	144	144225											
LRP1B	53353	broad.mit.edu	37	chr2	141055459	141055459	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaatgcaggttcctccAttttgacaaaaatcctcaca	5	12	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:141055459A>G	uc002tvj.1	-	84	13857	c.12885T>C	c.(12883-12885)AAT>AAC	p.N4295N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4295	Extracellular (Potential).|EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		AGGTTCCTCCATTTTGACAAA	0.488										TSP Lung(27;0.18)			G	141055459	A	G	141055459	2	3	280	1	0	0	0	0	0	0	0	1	8955	214	8	3		3	LRP1B	2	141055459	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	54	141055459	102143914	145	144226											
LRP1B	53353	broad.mit.edu	37	chr2	141232835	141232835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggtttctatgacaacaCtctgattggttccatccatt	6	10	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:141232835C>T	uc002tvj.1	-	60	10469	c.9497G>A	c.(9496-9498)AGT>AAT	p.S3166N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3166	Extracellular (Potential).|LDL-receptor class B 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		TATGACAACACTCTGATTGGT	0.373										TSP Lung(27;0.18)			T	141232835	C	T	141232835	3	4	280	1	0	0	0	0	1	0	0	0	8955	565	20	4	4430	4	LRP1B	2	141232835	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	177376	141232835	101966538	146	144227											
LRP1B	53353	broad.mit.edu	37	chr2	141253204	141253204	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacagaggcacttgtaAgtcccgtatgtattgatgca	10	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:141253204A>C	uc002tvj.1	-	56	9936	c.8964T>G	c.(8962-8964)ACT>ACG	p.T2988T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2988	Extracellular (Potential).|EGF-like 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		GGCACTTGTAAGTCCCGTATG	0.448										TSP Lung(27;0.18)			C	141253204	A	C	141253204	2	2	280	1	0	0	0	0	0	0	0	1	8955	59	3	5		5	LRP1B	2	141253204	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	20369	141253204	101946169	147	144228											
LRP1B	53353	broad.mit.edu	37	chr2	141641534	141641534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctatccagtcgactgTcaggccttctggagtagcca	10	13	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:141641534T>C	uc002tvj.1	-	25	4993	c.4021A>G	c.(4021-4023)ACA>GCA	p.T1341A	LRP1B_uc010fnl.1_Missense_Mutation_p.T523A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1341	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)		CAGTCGACTGTCAGGCCTTCT	0.473										TSP Lung(27;0.18)			C	141641534	T	C	141641534	3	2	280	1	0	0	0	0	1	0	0	0	8955	1667	58	3	10046	3	LRP1B	2	141641534	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	388330	141641534	101557839	148	144229											
GALNT5	11227	broad.mit.edu	37	chr2	158114806	158114806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattttttacagcagcaTaaaagagatgaaacctcccc	5	9	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:158114806T>C	uc002tzg.2	+	1	467	c.212T>C	c.(211-213)ATA>ACA	p.I71T	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	71	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TACAGCAGCATAAAAGAGATG	0.473													C	158114806	T	C	158114806	3	2	280	1	0	0	0	0	1	0	0	0	6216	1406	49	3	214	3	GALNT5	2	158114806	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	16473272	158114806	85084567	149	144230											
SCN2A	6326	broad.mit.edu	37	chr2	166152444	166152444	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagagaaagctaagagaccCaaacaggaacgcaaggatga	12	7	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:166152444C>A	uc002udc.2	+	2	401	c.111C>A	c.(109-111)CCC>CCA	p.P37P	SCN2A_uc002udd.2_Silent_p.P37P|SCN2A_uc002ude.2_Silent_p.P37P	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	37					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CTAAGAGACCCAAACAGGAAC	0.473													A	166152444	C	A	166152444	2	1	280	1	0	0	0	0	0	0	0	1	13916	581	21	5		5	SCN2A	2	166152444	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8037638	166152444	77046929	150	144231											
SCN9A	6335	broad.mit.edu	37	chr2	167056026	167056026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcgggtggcttactgttaAgaataggtgctagcaatcca	12	7	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:167056026A>G	uc010fpl.2	-	27	5431	c.5090T>C	c.(5089-5091)CTT>CCT	p.L1697P	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1708	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTACTGTTAAGAATAGGTGC	0.413													G	167056026	A	G	167056026	3	3	280	1	0	0	0	0	1	0	0	0	13925	72	3	3	847	3	SCN9A	2	167056026	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	903582	167056026	76143347	151	144232											
XIRP2	129446	broad.mit.edu	37	chr2	168107435	168107435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctccacccaggagtcGctctgaacaacttgtcagac	7	16	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:168107435G>A	uc002udx.2	+	8	9551	c.9533G>A	c.(9532-9534)CGC>CAC	p.R3178H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3003H|XIRP2_uc010fpq.2_Missense_Mutation_p.R2956H|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3003					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CCCAGGAGTCGCTCTGAACAA	0.493													A	168107435	G	A	168107435	3	1	280	1	0	0	0	0	1	0	0	0	17427	1087	38	1	9563	1	XIRP2	2	168107435	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1051409	168107435	75091938	152	144233											
TTN	7273	broad.mit.edu	37	chr2	179398170	179398171	+	Frame_Shift_Ins	INS	-	-	G													ctcccattttaatgttggtgINSgggggatgccagacactctg							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179398169_179398170T>TG	uc021vsy.1	-	306	95693_95694	c.95468_95469A>CA	c.(95467-95469)ccafs	p.P31823fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.P25518fs|TTN_uc021vta.1_Frame_Shift_Ins_p.P25451fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.P25326fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32750	Fibronectin type-III 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATGTTGGTGGGGGGATGCC	0.46													G	179398171	-	G	179398170	7	5	280	1	0	1	1	0	0	0	0	0	16732	1348	47	0	4827	0	TTN	2	179398170	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	11290735	179398170	63801203	153	144234											
TTN	7273	broad.mit.edu	37	chr2	179400073	179400073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattacccggaactggtaacTtgtttttccaaataagttga	7	7	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179400073T>G	uc010zfg.1	-	307	93789	c.93565A>C	c.(93565-93567)AGT>CGT	p.S31189R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24884R|TTN_uc010zfi.1_Missense_Mutation_p.S24817R|TTN_uc010zfj.1_Missense_Mutation_p.S24692R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32116							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGGTAACTTGTTTTTCCA	0.418													G	179400073	T	G	179400073	3	3	280	1	0	0	0	0	1	0	0	0	16732	1609	56	5	6730	5	TTN	2	179400073	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1903	179400073	63799300	154	144235											
TTN	7273	broad.mit.edu	37	chr2	179442835	179442835	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttaatcctgtcactttaaAgtctctcatccttatcggag	6	10	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179442835A>C	uc010zfg.1	-	271	60927	c.60703T>G	c.(60703-60705)TTT>GTT	p.F20235V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F13930V|TTN_uc010zfi.1_Missense_Mutation_p.F13863V|TTN_uc010zfj.1_Missense_Mutation_p.F13738V|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21162							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACTTTAAAGTCTCTCATC	0.433													C	179442835	A	C	179442835	3	2	280	1	0	0	0	0	1	0	0	0	16732	72	3	5	39736	5	TTN	2	179442835	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	42762	179442835	63756538	155	144236											
TTN	7273	broad.mit.edu	37	chr2	179466741	179466741	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcctaccttcattgctttCtttgcctttccatcaaattc	2	13	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179466741C>G	uc010zfg.1	-	233	47777	c.47553G>C	c.(47551-47553)AAG>AAC	p.K15851N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K9546N|TTN_uc010zfi.1_Missense_Mutation_p.K9479N|TTN_uc010zfj.1_Missense_Mutation_p.K9354N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16778							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTGCTTTCTTTGCCTTTC	0.398													G	179466741	C	G	179466741	3	3	280	1	0	0	0	0	1	0	0	0	16732	912	32	5	52752	5	TTN	2	179466741	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	23906	179466741	63732632	156	144237											
TTN	7273	broad.mit.edu	37	chr2	179584494	179584494	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttccagtcactacacactCtaatgcaaaaggatttccag	6	11	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179584494C>A	uc010zfg.1	-	79	20217	c.19993G>T	c.(19993-19995)GAG>TAG	p.E6665*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E3326*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7592							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTACACACTCTAATGCAAAA	0.393													A	179584494	C	A	179584494	4	1	280	1	0	0	0	0	0	1	0	0	16732	922	32	5	80928	5	TTN	2	179584494	Nonsense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	117753	179584494	63614879	157	144238											
TTN	7273	broad.mit.edu	37	chr2	179614274	179614274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggataatcataaaaatGtgcccttacagattctccct	6	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179614274G>A	uc002unb.2	-	46	13077	c.12853C>T	c.(12853-12855)CAT>TAT	p.H4285Y	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAAAAATGTGCCCTTACA	0.358													A	179614274	G	A	179614274	3	1	280	1	0	0	0	0	1	0	0	0	16732	1377	48	4	97444	4	TTN	2	179614274	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	29780	179614274	63585099	158	144239											
TTN	7273	broad.mit.edu	37	chr2	179616598	179616598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaacatatttaaatgtaAgtttctgggtaaaagaaggc	8	4	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179616598A>C	uc002unb.2	-	46	10753	c.10529T>G	c.(10528-10530)CTT>CGT	p.L3510R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAAATGTAAGTTTCTGGGT	0.378													C	179616598	A	C	179616598	3	2	280	1	0	0	0	0	1	0	0	0	16732	72	3	5	99768	5	TTN	2	179616598	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2324	179616598	63582775	159	144240											
TTN	7273	broad.mit.edu	37	chr2	179643977	179643977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtaatggatatccagaCatcttgcaatgaaaagtgac	9	6	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:179643977C>T	uc010zfg.1	-	23	4166	c.3942G>A	c.(3940-3942)ATG>ATA	p.M1314I	TTN_uc010zfh.1_Missense_Mutation_p.M1268I|TTN_uc010zfi.1_Missense_Mutation_p.M1268I|TTN_uc010zfj.1_Missense_Mutation_p.M1268I|TTN_uc002unb.2_Missense_Mutation_p.M1314I|uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1314							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATCCAGACATCTTGCAAT	0.313													T	179643977	C	T	179643977	3	4	280	1	0	0	0	0	1	0	0	0	16732	478	17	4	107406	4	TTN	2	179643977	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	27379	179643977	63555396	160	144241											
NCKAP1	10787	broad.mit.edu	37	chr2	183792922	183792922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaatctggttgatggCtttggccaagcaatgtatgt	12	7	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:183792922C>T	uc002upc.2	-	29	3505	c.3103G>A	c.(3103-3105)GCC>ACC	p.A1035T	NCKAP1_uc002upb.2_Missense_Mutation_p.A1041T	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	1035					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTTGATGGCTTTGGCCAAG	0.368													T	183792922	C	T	183792922	3	4	280	1	0	0	0	0	1	0	0	0	10221	797	28	2	295	2	NCKAP1	2	183792922	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4148945	183792922	59406451	161	144242											
GULP1	51454	broad.mit.edu	37	chr2	189406013	189406013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattctgagtcaaataaaCatttgtgctatgtatttgac	7	5	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:189406013C>T	uc010fru.2	+	7	828	c.367C>T	c.(367-369)CAT>TAT	p.H123Y	GULP1_uc002uqc.3_Missense_Mutation_p.H123Y|GULP1_uc002uqd.2_Missense_Mutation_p.H123Y|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Missense_Mutation_p.H123Y|GULP1_uc002uqf.2_Missense_Mutation_p.H123Y|GULP1_uc002uqg.2_Missense_Mutation_p.H123Y	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	123	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GTCAAATAAACATTTGTGCTA	0.363													T	189406013	C	T	189406013	3	4	280	1	0	0	0	0	1	0	0	0	6901	478	17	4	385	4	GULP1	2	189406013	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	5613091	189406013	53793360	162	144243											
MFSD6	54842	broad.mit.edu	37	chr2	191353530	191353530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgatcggaggcgtgtTagtcaattattttggtaaga	12	5	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:191353530T>C	uc002urz.2	+	5	2102	c.1778T>C	c.(1777-1779)TTA>TCA	p.L593S	MFSD6_uc010zge.1_Missense_Mutation_p.L55S	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	593	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(2)	2						GGAGGCGTGTTAGTCAATTAT	0.433													C	191353530	T	C	191353530	3	2	280	1	0	0	0	0	1	0	0	0	9535	1764	61	3	1788	3	MFSD6	2	191353530	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1947517	191353530	51845843	163	144244											
GLS	2744	broad.mit.edu	37	chr2	191775034	191775034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagcaattgttgtgaCttcactaataaaggtaaaat	9	5	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:191775034C>A	uc002usf.2	+	7	1289	c.1025C>A	c.(1024-1026)ACT>AAT	p.T342N	GLS_uc002use.2_Missense_Mutation_p.T342N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	342					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATTGTTGTGACTTCACTAATA	0.269													A	191775034	C	A	191775034	3	1	280	1	0	0	0	0	1	0	0	0	6463	565	20	5	1051	5	GLS	2	191775034	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	421504	191775034	51424339	164	144245											
TMEFF2	23671	broad.mit.edu	37	chr2	192818505	192818505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtacaggaccgggaacaaCgtatagaacactgtagtcct	10	10	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:192818505C>T	uc002utc.2	-	9	1322	c.928G>A	c.(928-930)GTT>ATT	p.V310I		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	310	Required for shedding.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCGGGAACAACGTATAGAACA	0.448													T	192818505	C	T	192818505	3	4	280	1	0	0	0	0	1	0	0	0	16011	536	19	1	204	1	TMEFF2	2	192818505	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1043471	192818505	50380868	165	144246											
DNAH7	56171	broad.mit.edu	37	chr2	196837116	196837116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatactcgatgaggaaggcGaggcagtttttggaatccac	12	8	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:196837116G>A	uc002utj.3	-	16	2009	c.1908C>T	c.(1906-1908)CTC>CTT	p.L636L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	636	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGAGGAAGGCGAGGCAGTTTT	0.398													A	196837116	G	A	196837116	2	1	280	1	0	0	0	0	0	0	0	1	4606	1045	37	1		1	DNAH7	2	196837116	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4018611	196837116	46362257	166	144247											
PGAP1	80055	broad.mit.edu	37	chr2	197763087	197763087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccaggtcttaggcactgCtgaactctaaaagaaaagaa	9	9	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:197763087C>T	uc002utw.2	-	6	928	c.814G>A	c.(814-816)GCA>ACA	p.A272T	PGAP1_uc002utx.2_Missense_Mutation_p.A98T|PGAP1_uc002uty.1_Missense_Mutation_p.A272T|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.A98T	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	272	Lumenal (Potential).				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			ovary(3)|central_nervous_system(1)	4						TTAGGCACTGCTGAACTCTAA	0.338													T	197763087	C	T	197763087	3	4	280	1	0	0	0	0	1	0	0	0	11777	797	28	2	2042	2	PGAP1	2	197763087	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	925971	197763087	45436286	167	144248											
ORC2L	4999	broad.mit.edu	37	chr2	201785740	201785740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcattgaggtggtcaaTggatgctataaggtaaatgt	14	3	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:201785740T>C	uc002uwr.2	-	14	1527	c.1270A>G	c.(1270-1272)ATT>GTT	p.I424V	ORC2L_uc010zhj.1_Missense_Mutation_p.I424V	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	424					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						AGGTGGTCAATGGATGCTATA	0.353													C	201785740	T	C	201785740	3	2	280	1	0	0	0	0	1	0	0	0	11262	1464	51	3	483	3	ORC2L	2	201785740	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4022653	201785740	41413633	168	144249											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190429	209190429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcacaacagcttgcccggCgggtctcccttgtgctttct	10	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:209190429C>T	uc002vcz.2	+	20	3052	c.2894C>T	c.(2893-2895)GCG>GTG	p.A965V	PIKFYVE_uc010fun.1_Missense_Mutation_p.A646V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A909V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	965					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			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GCTTGCCCGGCGGGTCTCCCT	0.502													T	209190429	C	T	209190429	3	4	280	1	0	0	0	0	1	0	0	0	11924	768	27	1	2979	1	PIKFYVE	2	209190429	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7404689	209190429	34008944	169	144250											
PTH2R	5746	broad.mit.edu	37	chr2	209302278	209302278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaggtaattgtttcccTgaatgggatggactcatttg	11	5	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:209302278T>C	uc002vdb.2	+	3	408	c.195T>C	c.(193-195)CCT>CCC	p.P65P	PTH2R_uc010zjb.1_Silent_p.P76P	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	65	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATTGTTTCCCTGAATGGGATG	0.343													C	209302278	T	C	209302278	2	2	280	1	0	0	0	0	0	0	0	1	12760	1567	55	3		3	PTH2R	2	209302278	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	111849	209302278	33897095	170	144251											
MAP2	4133	broad.mit.edu	37	chr2	210557836	210557837	+	Frame_Shift_Ins	INS	-	-	A													agtttgattctcccatgccaINSagtccctttcaagggggaag							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:210557835_210557836C>CA	uc002vde.1	+	6	1189_1190	c.941_942C>CA	c.(940-942)ccafs	p.P314fs	MAP2_uc002vdc.1_Frame_Shift_Ins_p.P314fs|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.P310fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	314					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)	TCTCCCATGCCAAGTCCCTTTC	0.46													A	210557837	-	A	210557836	7	5	280	1	0	1	1	0	0	0	0	0	9235	117	5	0	956	0	MAP2	2	210557836	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	1255558	210557836	32641537	171	144252											
TTLL4	9654	broad.mit.edu	37	chr2	219617886	219617886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagggttccacatgggagTtgtctctgattctgctccag	11	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:219617886T>C	uc002viy.2	+	18	3606	c.3236T>C	c.(3235-3237)GTT>GCT	p.V1079A	TTLL4_uc010zkl.1_Missense_Mutation_p.V914A|TTLL4_uc010fvx.2_Missense_Mutation_p.V1015A|TTLL4_uc010zkm.1_3'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1079					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		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)		CACATGGGAGTTGTCTCTGAT	0.537													C	219617886	T	C	219617886	3	2	280	1	0	0	0	0	1	0	0	0	16726	1725	60	3	3298	3	TTLL4	2	219617886	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	9060050	219617886	23581487	172	144253											
SPEG	10290	broad.mit.edu	37	chr2	220337027	220337027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacactcacatggaaccCccccaggagtctggacatgg	11	14	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:220337027C>T	uc010fwg.2	+	15	3914	c.3914C>T	c.(3913-3915)CCC>CTC	p.P1305L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1305	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		ACATGGAACCCCCCCAGGAGT	0.647													T	220337027	C	T	220337027	3	4	280	1	0	0	0	0	1	0	0	0	15035	623	22	4	3984	4	SPEG	2	220337027	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	719141	220337027	22862346	173	144254											
KIAA1486	57624	broad.mit.edu	37	chr2	226446682	226446682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaaaccaagaccccacagCgatgaatattccaagaagat	7	11	0	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:226446682C>T	uc002voe.2	+	4	724	c.549C>T	c.(547-549)AGC>AGT	p.S183S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	183										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GACCCCACAGCGATGAATATT	0.408													T	226446682	C	T	226446682	2	4	280	1	0	0	0	0	0	0	0	1	8237	767	27	1		1	KIAA1486	2	226446682	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	6109655	226446682	16752691	174	144255											
COL4A3	1285	broad.mit.edu	37	chr2	228169767	228169767	+	Frame_Shift_Del	DEL	A	A	-													aactcctggaccagctggagAaaaaggcaacaaaggttcta							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:228169766_228169766GA>G	uc002vom.2	+	46	4381	c.4219_4219GA>G	c.(4219-4221)gaafs	p.E1407fs	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'Flank|COL4A3_uc021vxt.1_5'Flank	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	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)		ACCAGCTGGAGAAAAAGGCAA	0.473													-	228169767	A	-	228169767	7	5	280	1	0	1	0	1	0	0	0	0	3691	246	9	0	4406	0	COL4A3	2	228169767	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	1723085	228169767	15029606	175	144256											
PID1	55022	broad.mit.edu	37	chr2	229890417	229890417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtggatccgcccgtcGctcttcatactgtggaaagt	11	11	2	0	rs147151232		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:229890417G>A	uc002vpr.3	-	3	722	c.684C>T	c.(682-684)AGC>AGT	p.S228S	PID1_uc002vps.3_Silent_p.S226S|PID1_uc002vpt.3_Silent_p.S195S|PID1_uc002vpu.3_Silent_p.S146S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	228	PID.					cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCGCCCGTCGCTCTTCATAC	0.562													A	229890417	G	A	229890417	2	1	280	1	0	0	0	0	0	0	0	1	11882	1078	38	1		1	PID1	2	229890417	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1720650	229890417	13308956	176	144257											
NGEF	25791	broad.mit.edu	37	chr2	233745944	233745944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtatgggtgcacgcaCtggacctgggggcagtctga	16	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:233745944C>A	uc002vts.2	-	14	2102	c.1854G>T	c.(1852-1854)CAG>CAT	p.Q618H	NGEF_uc010zmm.1_Missense_Mutation_p.Q341H|NGEF_uc010fyg.1_Missense_Mutation_p.Q526H	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	618	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		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)		GGTGCACGCACTGGACCTGGG	0.657													A	233745944	C	A	233745944	3	1	280	1	0	0	0	0	1	0	0	0	10394	564	20	5	286	5	NGEF	2	233745944	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3855527	233745944	9453429	177	144258											
IQCA1	79781	broad.mit.edu	37	chr2	237285818	237285818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagttccttatacagagActcgatggtcctggggagaa	11	10	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:237285818A>G	uc002vvz.1	-	13	1671	c.1489T>C	c.(1489-1491)TCT>CCT	p.S497P	IQCA1_uc002vwb.2_Missense_Mutation_p.S505P|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.S456P	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	497							ATP binding			ovary(1)	1						TTATACAGAGACTCGATGGTC	0.438													G	237285818	A	G	237285818	3	3	280	1	0	0	0	0	1	0	0	0	7802	275	10	3	1007	3	IQCA1	2	237285818	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3539874	237285818	5913555	178	144259											
COL6A3	1293	broad.mit.edu	37	chr2	238289663	238289663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgaacaccagggaggagtCgaaagcgatctcttccagct	12	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:238289663C>T	uc002vwl.2	-	5	2077	c.1792G>A	c.(1792-1794)GAC>AAC	p.D598N	COL6A3_uc002vwo.2_Missense_Mutation_p.D392N|COL6A3_uc010znj.1_Missense_Mutation_p.D191N|COL6A3_uc002vwq.2_Missense_Mutation_p.D392N|COL6A3_uc002vwr.2_Missense_Mutation_p.D191N|COL6A3_uc010znk.1_Missense_Mutation_p.D598N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	598	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		AGGGAGGAGTCGAAAGCGATC	0.592													T	238289663	C	T	238289663	3	4	280	1	0	0	0	0	1	0	0	0	3701	884	31	1	7948	1	COL6A3	2	238289663	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1003845	238289663	4909710	179	144260											
HDLBP	3069	broad.mit.edu	37	chr2	242194542	242194542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggtgaagccaggaagggGcggcgacagaggagacggtg	20	7	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:242194542G>A	uc002waz.2	-	9	1340	c.1112C>T	c.(1111-1113)GCC>GTC	p.A371V	HDLBP_uc002wba.2_Missense_Mutation_p.A371V|HDLBP_uc002wbb.2_Missense_Mutation_p.A323V|HDLBP_uc010fzn.1_Missense_Mutation_p.A100V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	371	KH 3.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		CCAGGAAGGGGCGGCGACAGA	0.522													A	242194542	G	A	242194542	3	1	280	1	0	0	0	0	1	0	0	0	7025	1203	42	2	2774	2	HDLBP	2	242194542	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	3904879	242194542	1004831	180	144261											
GAL3ST2	64090	broad.mit.edu	37	chr2	242741350	242741350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccggctcacgcgtccacCtgggctacccctggctcttc	10	20	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr2:242741350C>A	uc002wcj.1	+	3	405	c.274C>A	c.(274-276)CTG>ATG	p.L92M		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	92	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		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)		ACGCGTCCACCTGGGCTACCC	0.652													A	242741350	C	A	242741350	3	1	280	1	0	0	0	0	1	0	0	0	6198	680	24	5	284	5	GAL3ST2	2	242741350	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	546808	242741350	458023	181	144262											
RAD18	56852	broad.mit.edu	37	chr3	9000630	9000630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacactgaggtattatcAttgcaatgttgaaatactcg	9	6	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:9000630A>G	uc003brd.2	-	2	184	c.107T>C	c.(106-108)ATG>ACG	p.M36T	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	36	RING-type.				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AGGTATTATCATTGCAATGTT	0.323								Rad6_pathway					G	9000630	A	G	9000630	3	3	280	1	0	0	0	0	1	0	0	0	12980	217	8	3	1428	3	RAD18	3	9000630	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		9000630	189021800	182	144263											
TMEM43	79188	broad.mit.edu	37	chr3	14174093	14174093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagacgaggtattcctAcagtgagtgctgggcccctt	14	9	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:14174093A>G	uc003byk.2	+	5	694	c.440A>G	c.(439-441)TAC>TGC	p.Y147C	TMEM43_uc003byl.1_Missense_Mutation_p.Y27C	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	147	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						AGGTATTCCTACAGTGAGTGC	0.627													G	14174093	A	G	14174093	3	3	280	1	0	0	0	0	1	0	0	0	16164	391	14	3	458	3	TMEM43	3	14174093	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5173463	14174093	183848337	183	144264											
EFHB	151651	broad.mit.edu	37	chr3	19930097	19930097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaactcaagttggcctggTcacaagcttcctgcagctcg	9	13	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:19930097T>C	uc003cbl.3	-	10	1968	c.1772A>G	c.(1771-1773)GAC>GGC	p.D591G	EFHB_uc003cbm.2_Missense_Mutation_p.D461G	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	591	EF-hand 1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						GTTGGCCTGGTCACAAGCTTC	0.423													C	19930097	T	C	19930097	3	2	280	1	0	0	0	0	1	0	0	0	4945	1667	58	3	745	3	EFHB	3	19930097	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	5756004	19930097	178092333	184	144265											
NR1D2	9975	broad.mit.edu	37	chr3	24006563	24006563	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttcactccagcagtgaaAgaagtggtggaatttgcaaa	11	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:24006563A>C	uc003ccs.2	+	6	1561	c.1242A>C	c.(1240-1242)AAA>AAC	p.K414N	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.K339N	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	414					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						CAGCAGTGAAAGAAGTGGTGG	0.428													C	24006563	A	C	24006563	3	2	280	1	0	0	0	0	1	0	0	0	10616	69	3	5	1264	5	NR1D2	3	24006563	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4076466	24006563	174015867	185	144266											
TOP2B	7155	broad.mit.edu	37	chr3	25686929	25686929	+	Frame_Shift_Del	DEL	T	T	-													ttggcagtttctgactcttcTttttttgcagcattgttctg							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:25686928_25686928CT>C	uc011awn.1	-	1	146	c.103_103AG>G	c.(103-105)gaafs	p.E35fs	TOP2B_uc003cdj.2_Frame_Shift_Del_p.E30fs|TOP2B_uc021wug.1_Frame_Shift_Del_p.E30fs	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	35					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	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|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						TCTGACTCTTCTTTTTTTGCA	0.353													-	25686929	T	-	25686929	7	5	280	1	0	1	0	1	0	0	0	0	16363	1606	56	0	4918	0	TOP2B	3	25686929	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	1680366	25686929	172335501	186	144267											
TRANK1	9881	broad.mit.edu	37	chr3	36887887	36887887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagctgcttcagctctccGttgaggagctaaagataaca	9	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:36887887G>A	uc003cgj.2	-	7	3563	c.3261C>T	c.(3259-3261)AAC>AAT	p.N1087N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1637					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TCAGCTCTCCGTTGAGGAGCT	0.448													A	36887887	G	A	36887887	2	1	280	1	0	0	0	0	0	0	0	1	16451	1136	40	1		1	TRANK1	3	36887887	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	11200958	36887887	161134543	187	144268											
SCN10A	6336	broad.mit.edu	37	chr3	38739912	38739912	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggcagggacatcatgAgggcaaagagcagtgtgcgg	19	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:38739912A>T	uc003ciq.2	-	27	4799	c.4799T>A	c.(4798-4800)CTC>CAC	p.L1600H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1600	IV.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	GGACATCATGAGGGCAAAGAG	0.557													T	38739912	A	T	38739912	3	4	280	1	0	0	0	0	1	0	0	0	13912	304	11	5	1075	5	SCN10A	3	38739912	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1852025	38739912	159282518	188	144269											
SCN11A	11280	broad.mit.edu	37	chr3	38889155	38889155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcaggattcggccaatcCgagccaagcggacaattctg	11	13	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:38889155C>T	uc011ays.1	-	26	4605	c.4406G>A	c.(4405-4407)CGG>CAG	p.R1469Q		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1469	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCGGCCAATCCGAGCCAAGCG	0.493													T	38889155	C	T	38889155	3	4	280	1	0	0	0	0	1	0	0	0	13913	652	23	1	973	1	SCN11A	3	38889155	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	149243	38889155	159133275	189	144270											
ZNF167	55888	broad.mit.edu	37	chr3	44598809	44598809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgccagaggtgcacaccaaGgagcagatcctggagctgct	13	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:44598809G>T	uc010hin.2	+	2	658	c.270G>T	c.(268-270)AAG>AAT	p.K90N	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.K90N|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.K90N|ZNF167_uc003cnk.2_Missense_Mutation_p.K90N	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	90	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TGCACACCAAGGAGCAGATCC	0.617													T	44598809	G	T	44598809	3	4	280	1	0	0	0	0	1	0	0	0	17738	991	35	5	272	5	ZNF167	3	44598809	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	5709654	44598809	153423621	190	144271											
LTF	4057	broad.mit.edu	37	chr3	46491433	46491433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccctcgaaaacccaatgGcagagtccttgaacagcaga	9	13	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:46491433G>A	uc003cpq.2	-	8	1006	c.968C>T	c.(967-969)GCC>GTC	p.A323V	LTF_uc003fzr.2_Missense_Mutation_p.A279V|LTF_uc010hjh.2_Missense_Mutation_p.A323V|LTF_uc003cpr.2_Missense_Mutation_p.A310V	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	323	Transferrin-like 1.				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			central_nervous_system(2)|ovary(1)|lung(1)	4				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)	AAACCCAATGGCAGAGTCCTT	0.493													A	46491433	G	A	46491433	3	1	280	1	0	0	0	0	1	0	0	0	9079	1203	42	2	1204	2	LTF	3	46491433	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1892624	46491433	151530997	191	144272											
CSPG5	10675	broad.mit.edu	37	chr3	47619224	47619224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcttccagccaggcggTgccggtcaccgcagccgact	13	16	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:47619224T>C	uc003crp.3	-	2	468	c.292A>G	c.(292-294)ACC>GCC	p.T98A	CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.T98A|CSPG5_uc011bbb.1_5'UTR	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	98	Extracellular (Potential).				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			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCAGGCGGTGCCGGTCACC	0.726													C	47619224	T	C	47619224	3	2	280	1	0	0	0	0	1	0	0	0	3961	1696	59	3	1343	3	CSPG5	3	47619224	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1127791	47619224	150403206	192	144273											
DHX30	22907	broad.mit.edu	37	chr3	47890542	47890542	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggaggaaaacctgctgTacgcacccagcctgcgcttc	10	15	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:47890542T>C	uc003cru.2	+	18	3328	c.2902T>C	c.(2902-2904)TAC>CAC	p.Y968H	DHX30_uc003crt.2_Missense_Mutation_p.Y929H|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	968						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAACCTGCTGTACGCACCCAG	0.652													C	47890542	T	C	47890542	3	2	280	1	0	0	0	0	1	0	0	0	4504	1638	57	3	2975	3	DHX30	3	47890542	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	271318	47890542	150131888	193	144274											
RBM6	10180	broad.mit.edu	37	chr3	50005505	50005505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcccgttctgattttaGgaatagagatgtatctgatt	9	6	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:50005505G>A	uc003cyc.2	+	3	780	c.647G>A	c.(646-648)AGG>AAG	p.R216K	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	216					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCTGATTTTAGGAATAGAGAT	0.428													A	50005505	G	A	50005505	3	1	280	1	0	0	0	0	1	0	0	0	13144	1000	35	4	653	4	RBM6	3	50005505	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2114963	50005505	148016925	194	144275											
PBRM1	55193	broad.mit.edu	37	chr3	52682400	52682401	+	Frame_Shift_Ins	INS	-	-	T													ctcattataagttttggcatINStttttgcgaggagatctata							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:52682399_52682400A>AT	uc003des.2	-	6	785_786	c.773_774T>AT	c.(772-774)aatfs	p.N258fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Ins_p.N258fs|PBRM1_uc003der.2_Frame_Shift_Ins_p.N258fs|PBRM1_uc003det.2_Frame_Shift_Ins_p.N258fs|PBRM1_uc003deu.2_Frame_Shift_Ins_p.N258fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Ins_p.N258fs|PBRM1_uc010hmk.1_Frame_Shift_Ins_p.N258fs|PBRM1_uc003dey.2_Frame_Shift_Ins_p.N258fs|PBRM1_uc003dez.1_Frame_Shift_Ins_p.N258fs|PBRM1_uc003dfb.1_Frame_Shift_Ins_p.N156fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	258	Bromo 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.N258fs*6(4)		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)		AAGTTTTGGCATTTTTTGCGAG	0.332			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								T	52682401	-	T	52682400	7	5	280	1	0	1	1	0	0	0	0	0	11491	1493	52	0	4223	0	PBRM1	3	52682400	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	2676895	52682400	145340030	195	144276											
TKT	7086	broad.mit.edu	37	chr3	53289886	53289886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggcctggatggagcTgatacgtaggcggttggccg	19	7	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:53289886T>C	uc003dgo.2	-	1	183	c.73A>G	c.(73-75)AGC>GGC	p.S25G	TKT_uc011beo.1_5'UTR|TKT_uc003dgq.2_Missense_Mutation_p.S25G|TKT_uc011beq.1_Missense_Mutation_p.S25G|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Missense_Mutation_p.S25G	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1	25					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		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)	TGGATGGAGCTGATACGTAGG	0.522													C	53289886	T	C	53289886	3	2	280	1	0	0	0	0	1	0	0	0	15931	1580	55	3	1854	3	TKT	3	53289886	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	607486	53289886	144732544	196	144277											
TMF1	7110	broad.mit.edu	37	chr3	69077408	69077408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcttcaagtgttcttAcatattcatcttttaggttt	5	8	5	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:69077408A>G	uc003dnn.2	-	12	2880	c.2633T>C	c.(2632-2634)GTA>GCA	p.V878A	TMF1_uc011bfx.1_Missense_Mutation_p.V881A	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	878	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		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)		AAGTGTTCTTACATATTCATC	0.353													G	69077408	A	G	69077408	3	3	280	1	0	0	0	0	1	0	0	0	16225	391	14	3	672	3	TMF1	3	69077408	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	15787522	69077408	128945022	197	144278											
PDZRN3	23024	broad.mit.edu	37	chr3	73433995	73433995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattacgggtgctctcgtcGgtccgccccacaccgctgtc	10	17	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:73433995G>A	uc003dpl.1	-	10	1818	c.1722C>T	c.(1720-1722)ACC>ACT	p.T574T	PDZRN3_uc011bgh.1_Silent_p.T231T|PDZRN3_uc010hoe.1_Silent_p.T272T|PDZRN3_uc011bgf.1_Silent_p.T291T|PDZRN3_uc011bgg.1_Silent_p.T294T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	574							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		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)		TGCTCTCGTCGGTCCGCCCCA	0.597													A	73433995	G	A	73433995	2	1	280	1	0	0	0	0	0	0	0	1	11709	1103	39	1		1	PDZRN3	3	73433995	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4356587	73433995	124588435	198	144279											
ROBO1	6091	broad.mit.edu	37	chr3	78663796	78663796	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgtgtcaatggactcAccatctgtgtaggtttctct	8	11	5	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:78663796A>G	uc003dqe.2	-	28	4643	c.4435_splice	c.e28+1	p.D1479_splice	ROBO1_uc003dqb.2_Splice_Site_p.D1440_splice|ROBO1_uc003dqc.2_Splice_Site_p.D1379_splice|ROBO1_uc003dqd.2_Splice_Site_p.D1434_splice|ROBO1_uc010hoh.2_Splice_Site_p.D671_splice|ROBO1_uc011bgl.1_Splice_Site_p.D1051_splice	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a						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			large_intestine(2)	2		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)		CAATGGACTCACCATCTGTGT	0.463													G	78663796	A	G	78663796	5	3	280	1	0	0	0	0	0	0	1	0	13513	173	6	3	534	3	ROBO1	3	78663796	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5229801	78663796	119358634	199	144280											
EPHA3	2042	broad.mit.edu	37	chr3	89445043	89445043	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccagaaatagcatctctTtgtcctggcaagaacctgaa	7	12	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:89445043T>G	uc003dqy.2	+	6	1588	c.1363T>G	c.(1363-1365)TTG>GTG	p.L455V	EPHA3_uc003dqx.1_Missense_Mutation_p.L455V|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	455	Extracellular (Potential).|Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		TAGCATCTCTTTGTCCTGGCA	0.453										TSP Lung(6;0.00050)			G	89445043	T	G	89445043	3	3	280	1	0	0	0	0	1	0	0	0	5168	1838	64	5	1385	5	EPHA3	3	89445043	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	10781247	89445043	108577387	200	144281											
EPHA3	2042	broad.mit.edu	37	chr3	89528603	89528603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaagaagatcatcagtaGcattaaagctctagaaacgc	8	8	3	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:89528603G>A	uc003dqy.2	+	17	3128	c.2903G>A	c.(2902-2904)AGC>AAC	p.S968N	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	968	Cytoplasmic (Potential).|SAM.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		ATCATCAGTAGCATTAAAGCT	0.458										TSP Lung(6;0.00050)			A	89528603	G	A	89528603	3	1	280	1	0	0	0	0	1	0	0	0	5168	971	34	2	2995	2	EPHA3	3	89528603	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	83560	89528603	108493827	201	144282											
OR5K3	403277	broad.mit.edu	37	chr3	98110108	98110108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaatgaattggtgttatTtatcttggcaggatcaattc	8	5	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:98110108T>G	uc011bgw.1	+	1	599	c.599T>G	c.(598-600)TTT>TGT	p.F200C		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGGTGTTATTTATCTTGGCA	0.313													G	98110108	T	G	98110108	3	3	280	1	0	0	0	0	1	0	0	0	11168	1841	64	5	601	5	OR5K3	3	98110108	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	8581505	98110108	99912322	202	144283											
CEP97	79598	broad.mit.edu	37	chr3	101475941	101475941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgatgaaccaaagccaaAatgaagagttgtctcctctt	8	8	2	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:101475941A>G	uc003dvk.1	+	8	955	c.928A>G	c.(928-930)AAT>GAT	p.N310D	CEP97_uc010hpm.1_Missense_Mutation_p.N276D|CEP97_uc011bhf.1_Missense_Mutation_p.N310D|CEP97_uc003dvl.1_Missense_Mutation_p.N6D|CEP97_uc003dvm.1_Missense_Mutation_p.N148D	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	310	CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						CCAAAGCCAAAATGAAGAGTT	0.398													G	101475941	A	G	101475941	3	3	280	1	0	0	0	0	1	0	0	0	3263	14	1	3	958	3	CEP97	3	101475941	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3365833	101475941	96546489	203	144284											
NFKBIZ	64332	broad.mit.edu	37	chr3	101574022	101574022	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacacctctgcatgtgtgTgctgagaagggccactccca	11	12	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:101574022T>C	uc003dvp.2	+	7	1675	c.1560T>C	c.(1558-1560)TGT>TGC	p.C520C	NFKBIZ_uc003dvo.2_Silent_p.C420C|NFKBIZ_uc010hpo.2_Silent_p.C420C|NFKBIZ_uc003dvq.2_Silent_p.C398C	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	520	Interaction with NFKB1/p50 (By similarity).|ANK 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						TGCATGTGTGTGCTGAGAAGG	0.532													C	101574022	T	C	101574022	2	2	280	1	0	0	0	0	0	0	0	1	10383	1702	59	3		3	NFKBIZ	3	101574022	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	98081	101574022	96448408	204	144285											
DZIP3	9666	broad.mit.edu	37	chr3	108363596	108363596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcataccagtaccagaaaTcatacagaggatgttatcct	8	9	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:108363596T>C	uc003dxd.2	+	14	2149	c.1727T>C	c.(1726-1728)ATC>ACC	p.I576T	DZIP3_uc003dxf.1_Missense_Mutation_p.I576T|DZIP3_uc011bhm.1_Missense_Mutation_p.I27T|DZIP3_uc003dxe.1_Missense_Mutation_p.I576T|DZIP3_uc003dxg.1_Missense_Mutation_p.I299T	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	576					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTACCAGAAATCATACAGAGG	0.284													C	108363596	T	C	108363596	3	2	280	1	0	0	0	0	1	0	0	0	4865	1435	50	3	1777	3	DZIP3	3	108363596	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	6789574	108363596	89658834	205	144286											
DPPA4	55211	broad.mit.edu	37	chr3	109050613	109050613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcaaaggcacacaggcGcttatatgcatccaatttct	9	10	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:109050613G>A	uc003dxq.3	-	4	413	c.358C>T	c.(358-360)CGC>TGC	p.R120C	DPPA4_uc011bho.1_Missense_Mutation_p.R120C|DPPA4_uc011bhp.1_Missense_Mutation_p.R120C	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	120						nucleus	protein binding			upper_aerodigestive_tract(1)	1						GCACACAGGCGCTTATATGCA	0.433													A	109050613	G	A	109050613	3	1	280	1	0	0	0	0	1	0	0	0	4736	1087	38	1	572	1	DPPA4	3	109050613	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	687017	109050613	88971817	206	144287											
POLQ	10721	broad.mit.edu	37	chr3	121238933	121238933	+	Splice_Site	DEL	A	A	-													tctcctcaaaagtaagacctAaaaaaaggaggtttttatat							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|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)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)					-	121238933	A	-	121238933	8	5	280	1	0	1	0	1	0	0	1	0	12208	377	13	0		0	POLQ	3	121238933	Splice_Site	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	12188320	121238933	76783497	207	144288											
CLSTN2	64084	broad.mit.edu	37	chr3	140122478	140122478	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catccttctgcaggggaaatCtgtgcgttcaagatccatgg	11	10	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:140122478C>T	uc003etn.2	+	3	430	c.240C>T	c.(238-240)ATC>ATT	p.I80I	CLSTN2_uc003etm.2_Silent_p.I80I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	80	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CAGGGGAAATCTGTGCGTTCA	0.532										HNSCC(16;0.037)			T	140122478	C	T	140122478	2	4	280	1	0	0	0	0	0	0	0	1	3562	903	32	4		4	CLSTN2	3	140122478	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	18883545	140122478	57899952	208	144289											
ZBTB38	253461	broad.mit.edu	37	chr3	141164211	141164211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggagacaaagcagtggGggctggaaaccaaggaaggc	17	6	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:141164211G>A	uc003etw.2	+	8	3963	c.2981G>A	c.(2980-2982)GGG>GAG	p.G994E	ZBTB38_uc010hun.2_Missense_Mutation_p.G991E|ZBTB38_uc010huo.2_Missense_Mutation_p.G994E|ZBTB38_uc003ety.2_Missense_Mutation_p.G994E|ZBTB38_uc010hup.2_Missense_Mutation_p.G995E	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	994					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AAAGCAGTGGGGGCTGGAAAC	0.542													A	141164211	G	A	141164211	3	1	280	1	0	0	0	0	1	0	0	0	17536	1232	43	4	2983	4	ZBTB38	3	141164211	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1041733	141164211	56858219	209	144290											
FAM194A	131831	broad.mit.edu	37	chr3	150400040	150400040	+	Frame_Shift_Del	DEL	A	A	-													agaggaaacatccacattagAaaaaaatgctcttagatcgc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:150400039_150400039GA>G	uc003eyg.3	-	6	905	c.848_848TC>C	c.(847-849)tctfs	p.S283fs	FAM194A_uc003eyh.3_Frame_Shift_Del_p.S137fs	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	283										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						ATCCACATTAGAAAAAAATGC	0.363													-	150400040	A	-	150400040	7	5	280	1	0	1	0	1	0	0	0	0	5526	246	9	0	1176	0	FAM194A	3	150400040	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	9235829	150400040	47622390	210	144291											
MED12L	116931	broad.mit.edu	37	chr3	151083753	151083753	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatcacgtgtgggggTttaatgatgtactttgcact	10	7	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:151083753T>G	uc003eyp.2	+	21	3234	c.3196T>G	c.(3196-3198)TTT>GTT	p.F1066V	MED12L_uc011bnz.1_Missense_Mutation_p.F926V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.F229V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1066					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGTGTGGGGGTTTAATGATGT	0.368													G	151083753	T	G	151083753	3	3	280	1	0	0	0	0	1	0	0	0	9429	1725	60	5	3278	5	MED12L	3	151083753	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	683713	151083753	46938677	211	144292											
GPR149	344758	broad.mit.edu	37	chr3	154147110	154147110	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacagaaattggaagtaacCggggacctcgtttggccact	12	10	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:154147110C>G	uc003faa.2	-	1	395	c.295G>C	c.(295-297)GGT>CGT	p.G99R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	99	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAAGTAACCGGGGACCTCG	0.488													G	154147110	C	G	154147110	3	3	280	1	0	0	0	0	1	0	0	0	6654	652	23	5	1916	5	GPR149	3	154147110	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3063357	154147110	43875320	212	144293											
SI	6476	broad.mit.edu	37	chr3	164755788	164755788	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatacatatcaacccgttGtttcctccatggcctttttg	6	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:164755788G>A	uc003fei.2	-	21	2388	c.2326C>T	c.(2326-2328)CAA>TAA	p.Q776*		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	776	Lumenal.|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			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCAACCCGTTGTTTCCTCCAT	0.343										HNSCC(35;0.089)			A	164755788	G	A	164755788	4	1	280	1	0	0	0	0	0	1	0	0	14297	1386	48	4	3269	4	SI	3	164755788	Nonsense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	10608678	164755788	33266642	213	144294											
WDR49	151790	broad.mit.edu	37	chr3	167277983	167277983	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgtctatcatccagaAggaaacagtagaccctgtat	8	11	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:167277983A>G	uc003fev.1	-	5	826	c.520T>C	c.(520-522)TTC>CTC	p.F174L	WDR49_uc003feu.1_5'UTR|WDR49_uc011bpd.1_Missense_Mutation_p.F227L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	174	WD 3.									large_intestine(1)|ovary(1)|skin(1)	3						ATCATCCAGAAGGAAACAGTA	0.378													G	167277983	A	G	167277983	3	3	280	1	0	0	0	0	1	0	0	0	17299	72	3	3	1617	3	WDR49	3	167277983	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2522195	167277983	30744447	214	144295											
SERPINI1	5274	broad.mit.edu	37	chr3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-													tcaatgggatatgacagcctAaaaaatggtaagagtgatca							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:167507158_167507158TA>T	uc003ffa.4	+	1	440	c.242_242TA>T	c.(241-243)ctafs	p.L81fs	SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L81Q(2)|p.S80I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATGACAGCCTAAAAAATGGT	0.388													-	167507159	A	-	167507159	7	5	280	1	0	1	0	1	0	0	0	0	14118	349	13	0	245	0	SERPINI1	3	167507159	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	229176	167507159	30515271	215	144296											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, 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(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	280	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	11444926	178952085	19070345	216	144297											
KLHL6	89857	broad.mit.edu	37	chr3	183225953	183225953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctccacaaagtaccacGggtccagaagcggtaagcgc	11	14	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:183225953G>T	uc003flr.2	-	3	861	c.803C>A	c.(802-804)CCG>CAG	p.P268Q	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.P266Q	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	268	BACK.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	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)			AAAGTACCACGGGTCCAGAAG	0.577													T	183225953	G	T	183225953	3	4	280	1	0	0	0	0	1	0	0	0	8393	1116	39	5	1082	5	KLHL6	3	183225953	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4273868	183225953	14796477	217	144298											
KLHL6	89857	broad.mit.edu	37	chr3	183245660	183245660	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggttagcagcctccaggacCcgctggacattctgcttggt	12	12	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:183245660C>A	uc003flr.2	-	2	490	c.432G>T	c.(430-432)CGG>CGT	p.R144R	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.R142R	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	144										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	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)			CCTCCAGGACCCGCTGGACAT	0.512													A	183245660	C	A	183245660	2	1	280	1	0	0	0	0	0	0	0	1	8393	610	22	5		5	KLHL6	3	183245660	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	19707	183245660	14776770	218	144299											
ABCC5	10057	broad.mit.edu	37	chr3	183643441	183643441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaaatgcttctcggaTggtctcttgaatcaataagt	9	8	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:183643441T>C	uc003fmg.2	-	29	4279	c.4114A>G	c.(4114-4116)ATC>GTC	p.I1372V	ABCC5_uc011bqt.1_Missense_Mutation_p.I900V|ABCC5_uc010hxl.2_Missense_Mutation_p.I1329V	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1372	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTTCTCGGATGGTCTCTTGA	0.498													C	183643441	T	C	183643441	3	2	280	1	0	0	0	0	1	0	0	0	56	1464	51	3	207	3	ABCC5	3	183643441	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	397781	183643441	14378989	219	144300											
EIF2B5	8893	broad.mit.edu	37	chr3	183860111	183860111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagatgaagatgatggCgagttcagtgatgattctgg	16	3	2	6			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:183860111C>T	uc003fmp.2	+	9	1753	c.1389C>T	c.(1387-1389)GGC>GGT	p.G463G	EIF2B5_uc003fmq.2_Silent_p.G184G|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	463					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			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AAGATGATGGCGAGTTCAGTG	0.517													T	183860111	C	T	183860111	2	4	280	1	0	0	0	0	0	0	0	1	5004	755	27	1		1	EIF2B5	3	183860111	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	216670	183860111	14162319	220	144301											
DVL3	1857	broad.mit.edu	37	chr3	183885371	183885371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcccacccccaggccTagacgacttccacttgtcca	6	20	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:183885371T>C	uc003fms.2	+	12	1342	c.1202T>C	c.(1201-1203)CTA>CCA	p.L401P	DVL3_uc011bqw.1_Missense_Mutation_p.L384P|DVL3_uc003fmt.2_Missense_Mutation_p.L72P|DVL3_uc003fmu.2_Missense_Mutation_p.L233P	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	401					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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCCCAGGCCTAGACGACTTC	0.328													C	183885371	T	C	183885371	3	2	280	1	0	0	0	0	1	0	0	0	4837	1522	53	3	1248	3	DVL3	3	183885371	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	25260	183885371	14137059	221	144302											
ECE2	9718	broad.mit.edu	37	chr3	184009927	184009927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccctgcccgcttccgCgtgctgggcactctctccaa	9	19	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:184009927C>T	uc003fni.3	+	19	2591	c.2553C>T	c.(2551-2553)CGC>CGT	p.R851R	ECE2_uc003fnl.3_Silent_p.R779R|ECE2_uc003fnm.3_Silent_p.R733R|ECE2_uc003fnk.3_Silent_p.R704R	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	851	Lumenal (Potential).|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			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTTCCGCGTGCTGGGCA	0.672													T	184009927	C	T	184009927	2	4	280	1	0	0	0	0	0	0	0	1	4890	755	27	1		1	ECE2	3	184009927	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	124556	184009927	14012503	222	144303											
HRASLS	57110	broad.mit.edu	37	chr3	192973483	192973483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaactaccctggcaaccCctgcccaggggacttgatcg	10	14	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:192973483C>T	uc003fta.2	+	2	449	c.44C>T	c.(43-45)CCC>CTC	p.P15L		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	15											0	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)		CCTGGCAACCCCTGCCCAGGG	0.468													T	192973483	C	T	192973483	3	4	280	1	0	0	0	0	1	0	0	0	7349	623	22	4	46	4	HRASLS	3	192973483	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8963556	192973483	5048947	223	144304											
ATP13A3	79572	broad.mit.edu	37	chr3	194158139	194158139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcaaccacactcatacGttgcaaagcagaagaaaatg	8	11	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:194158139G>A	uc003fty.3	-	18	2302	c.1900C>T	c.(1900-1902)CGT>TGT	p.R634C	ATP13A3_uc003ftz.1_Missense_Mutation_p.R340C	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	634					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	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)		ACACTCATACGTTGCAAAGCA	0.458													A	194158139	G	A	194158139	3	1	280	1	0	0	0	0	1	0	0	0	1125	1145	40	1	1840	1	ATP13A3	3	194158139	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1184656	194158139	3864291	224	144305											
C3orf21	152002	broad.mit.edu	37	chr3	194790641	194790641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagaagtcctggtcccCgaggtggccgcggaagtggt	18	9	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:194790641C>T	uc003fum.3	-	4	1093	c.985G>A	c.(985-987)GGG>AGG	p.G329R	C3orf21_uc003ful.2_Missense_Mutation_p.G126R|C3orf21_uc003fuk.2_Missense_Mutation_p.G123R	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	329						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		TCCTGGTCCCCGAGGTGGCCG	0.652													T	194790641	C	T	194790641	3	4	280	1	0	0	0	0	1	0	0	0	2214	652	23	1	200	1	C3orf21	3	194790641	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	632502	194790641	3231789	225	144306											
MUC4	4585	broad.mit.edu	37	chr3	195474070	195474070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaggcctcagctgagtTcaggaaataggagaacctgg	14	8	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr3:195474070T>C	uc011bto.1	-	26	16292	c.15832A>G	c.(15832-15834)AAC>GAC	p.N5278D	MUC4_uc010hzq.2_Missense_Mutation_p.N263D|MUC4_uc003fuz.2_Missense_Mutation_p.N1004D|MUC4_uc003fva.2_Missense_Mutation_p.N886D|MUC4_uc003fvb.2_Missense_Mutation_p.N922D|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.N922D|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.N886D|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.N970D|MUC4_uc011bti.1_Missense_Mutation_p.N970D|MUC4_uc011btj.1_Missense_Mutation_p.N1147D|MUC4_uc011btk.1_Missense_Mutation_p.N886D|MUC4_uc011btl.1_Missense_Mutation_p.N915D|MUC4_uc011btm.1_Missense_Mutation_p.N1095D|MUC4_uc011btn.1_Missense_Mutation_p.N886D|MUC4_uc003fvo.2_Missense_Mutation_p.N1170D|MUC4_uc003fvp.2_Missense_Mutation_p.N1119D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2163					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		TCAGCTGAGTTCAGGAAATAG	0.602													C	195474070	T	C	195474070	3	2	280	1	0	0	0	0	1	0	0	0	9978	1783	62	3	26	3	MUC4	3	195474070	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	683429	195474070	2548360	226	144307											
HTT	3064	broad.mit.edu	37	chr4	3146957	3146957	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttaggttggcactgtgggTatgtattttcctcagtatat	11	5	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:3146957T>C	uc011bvq.1	+	25	3294	c.3149_splice	c.e25+2	p.G1050_splice		NM_002111	NP_002102	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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCACTGTGGGTATGTATTTTC	0.343													C	3146957	T	C	3146957	5	2	280	1	0	0	0	0	0	0	1	0	7457	1652	57	3	3239	3	HTT	4	3146957	Splice_Site	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08		3146957	188007319	227	144308											
ABLIM2	84448	broad.mit.edu	37	chr4	8089996	8089997	+	Frame_Shift_Ins	INS	-	-	G													tgaaggtcactcggtccccgINSggggggaagggcagcctgaa							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:8089995_8089996C>CG	uc003gko.3	-	3	497_498	c.354_355G>CG	c.(352-357)cccgggfs	p.P118fs	ABLIM2_uc003gkm.4_Frame_Shift_Ins_p.P118fs|ABLIM2_uc003gkp.3_Frame_Shift_Ins_p.P118fs|ABLIM2_uc003gkq.3_Frame_Shift_Ins_p.P118fs|ABLIM2_uc003gkr.3_Frame_Shift_Ins_p.P118fs|ABLIM2_uc003gkj.4_Frame_Shift_Ins_p.P118fs|ABLIM2_uc003gks.3_Frame_Shift_Ins_p.P118fs|ABLIM2_uc011bwl.1_Frame_Shift_Ins_p.P123fs	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	118	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACTCGGTCCCCGGGGGGGAAGG	0.653													G	8089997	-	G	8089996	7	5	280	1	0	1	1	0	0	0	0	0	95	1103	39	0	1709	0	ABLIM2	4	8089996	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	4943039	8089996	183064280	228	144309											
SLIT2	9353	broad.mit.edu	37	chr4	20568977	20568977	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatagtgatccagttgacTtttaccgatgcacctgtcca	8	10	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:20568977T>G	uc003gpr.1	+	27	3022	c.2818T>G	c.(2818-2820)TTT>GTT	p.F940V	SLIT2_uc003gps.1_Missense_Mutation_p.F932V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	940	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						TCCAGTTGACTTTTACCGATG	0.383													G	20568977	T	G	20568977	3	3	280	1	0	0	0	0	1	0	0	0	14740	1609	56	5	2924	5	SLIT2	4	20568977	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	12478981	20568977	170585299	229	144310											
PACRGL	133015	broad.mit.edu	37	chr4	20714416	20714417	+	Frame_Shift_Del	DEL	GA	GA	-													cttggtctttgtcagggtctGagagagactaagcatccata							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:20714415_20714416TGA>T	uc010iei.1	+	7	761_762	c.515_516TGA>T	c.(514-516)ctgfs	p.L172fs	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Frame_Shift_Del_p.L124fs|PACRGL_uc011bxm.2_Frame_Shift_Del_p.L71fs|PACRGL_uc003gqa.3_Intron|PACRGL_uc010iek.3_Frame_Shift_Del_p.L124fs|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	124							binding			endometrium(2)|lung(7)|prostate(1)	10						TGTCAGGGTCTGAGAGAGACTA	0.351													-	20714417	GA	-	20714416	7	5	280	1	0	1	0	1	0	0	0	0	11371	1277	45	0	390	0	PACRGL	4	20714416	Frame_Shift_Del	DEL	GA	TCGA-HU-A4H4-01A-21D-A25D-08	145439	20714416	170439860	230	144311											
PCDH7	5099	broad.mit.edu	37	chr4	30725990	30725990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatggggcgatacaggtcCgttaatggtgggcccggcag	17	9	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:30725990C>T	uc003gsk.1	+	1	3954	c.2946C>T	c.(2944-2946)TCC>TCT	p.S982S	PCDH7_uc011bxw.1_Silent_p.S935S|PCDH7_uc011bxx.1_Silent_p.S982S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	982	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GATACAGGTCCGTTAATGGTG	0.522													T	30725990	C	T	30725990	2	4	280	1	0	0	0	0	0	0	0	1	11516	639	23	1		1	PCDH7	4	30725990	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	10011574	30725990	160428286	231	144312											
UGT2B28	54490	broad.mit.edu	37	chr4	70160477	70160477	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcacaaagttttgtctgTtttgtttctggaagtttgct	9	6	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:70160477T>G	uc003hej.2	+	6	1542	c.1540T>G	c.(1540-1542)TTT>GTT	p.F514V	UGT2B28_uc010ihr.2_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	514	Helical; (Potential).				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	GTTTTGTCTGTTTTGTTTCTG	0.433													G	70160477	T	G	70160477	3	3	280	1	0	0	0	0	1	0	0	0	16957	1725	60	5	1562	5	UGT2B28	4	70160477	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	39434487	70160477	120993799	232	144313											
GRSF1	2926	broad.mit.edu	37	chr4	71701916	71701916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccatagtgcatgaccagGgcagtccttgagctcgaatg	11	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:71701916G>T	uc010iia.1	-	2	556	c.473C>A	c.(472-474)CCC>CAC	p.P158H	GRSF1_uc011caz.1_Missense_Mutation_p.P40H|GRSF1_uc003hfs.2_5'UTR	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1 isoform 1	158	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding				0		all_hematologic(202;0.21)	Lung(101;0.235)			GCATGACCAGGGCAGTCCTTG	0.383													T	71701916	G	T	71701916	3	4	280	1	0	0	0	0	1	0	0	0	6809	1232	43	5	1001	5	GRSF1	4	71701916	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1541439	71701916	119452360	233	144314											
FRAS1	80144	broad.mit.edu	37	chr4	79429907	79429907	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacacttgctgactatgAccatgtggaagaagttacca	10	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:79429907A>C	uc003hlb.2	+	63	9967	c.9527A>C	c.(9526-9528)GAC>GCC	p.D3176A	FRAS1_uc003hlc.1_Missense_Mutation_p.D178A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3171	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GCTGACTATGACCATGTGGAA	0.512													C	79429907	A	C	79429907	3	2	280	1	0	0	0	0	1	0	0	0	6042	275	10	5	9852	5	FRAS1	4	79429907	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	7727991	79429907	111724369	234	144315											
WDFY3	23001	broad.mit.edu	37	chr4	85654581	85654581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacgtaagggtaatggTtataaaacatatcatttcgc	9	7	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:85654581T>C	uc003hpd.2	-	44	7583	c.7175A>G	c.(7174-7176)AAC>AGC	p.N2392S	WDFY3_uc003hpe.1_Missense_Mutation_p.N20S	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2392						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGGTAATGGTTATAAAACAT	0.463													C	85654581	T	C	85654581	3	2	280	1	0	0	0	0	1	0	0	0	17267	1725	60	3	3505	3	WDFY3	4	85654581	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	6224674	85654581	105499695	235	144316											
WDFY3	23001	broad.mit.edu	37	chr4	85707266	85707266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatgacacaggggatggcaCcaccccttcggattttgcat	10	11	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:85707266C>A	uc003hpd.2	-	24	4336	c.3928G>T	c.(3928-3930)GTG>TTG	p.V1310L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1310						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGGATGGCACCACCCCTTCG	0.388													A	85707266	C	A	85707266	3	1	280	1	0	0	0	0	1	0	0	0	17267	507	18	5	6832	5	WDFY3	4	85707266	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	52685	85707266	105447010	236	144317											
PTPN13	5783	broad.mit.edu	37	chr4	87735668	87735668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacacgtcttcaagcagaAgaagagcaaaaacagcagcc	9	11	2	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:87735668A>G	uc003hpz.2	+	48	7902	c.7422A>G	c.(7420-7422)GAA>GAG	p.E2474E	PTPN13_uc003hpy.2_Silent_p.E2479E|PTPN13_uc003hqa.2_Silent_p.E2455E|PTPN13_uc003hqb.2_Silent_p.E2283E	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2474				E->D: No effect on substrate affinity.		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCAAGCAGAAGAAGAGCAAA	0.408													G	87735668	A	G	87735668	2	3	280	1	0	0	0	0	0	0	0	1	12782	69	3	3		3	PTPN13	4	87735668	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2028402	87735668	103418608	237	144318											
GRID2	2895	broad.mit.edu	37	chr4	94690430	94690430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggcctaagaatggccaGtgtgacctgtactcgtcagt	13	9	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:94690430G>A	uc011cdt.1	+	15	2688	c.2430G>A	c.(2428-2430)CAG>CAA	p.Q810Q	GRID2_uc011cdu.1_Silent_p.Q715Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	810	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	AGAATGGCCAGTGTGACCTGT	0.488													A	94690430	G	A	94690430	2	1	280	1	0	0	0	0	0	0	0	1	6772	1020	36	4		4	GRID2	4	94690430	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6954762	94690430	96463846	238	144319											
PDLIM5	10611	broad.mit.edu	37	chr4	95506806	95506806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagagactgattgaggaTactgaagactggcgtccaag	13	6	0	6			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:95506806T>C	uc003hti.2	+	6	952	c.801T>C	c.(799-801)GAT>GAC	p.D267D	PDLIM5_uc003htf.2_Silent_p.D144D|PDLIM5_uc003htg.2_Silent_p.D164D|PDLIM5_uc011cdx.1_Silent_p.D164D|PDLIM5_uc003hth.2_Silent_p.D158D|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Silent_p.D164D|PDLIM5_uc011cdy.1_Silent_p.D145D|PDLIM5_uc003htl.2_5'UTR	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	267					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGATTGAGGATACTGAAGACT	0.468													C	95506806	T	C	95506806	2	2	280	1	0	0	0	0	0	0	0	1	11683	1403	49	3		3	PDLIM5	4	95506806	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	816376	95506806	95647470	239	144320											
C4orf17	84103	broad.mit.edu	37	chr4	100460468	100460468	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacagttaaattgcccccAaattttactgcaaaatcaaa	3	12	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:100460468A>C	uc003huw.2	+	7	1100	c.777A>C	c.(775-777)CCA>CCC	p.P259P	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	259											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCCCCCAAATTTTACTG	0.468													C	100460468	A	C	100460468	2	2	280	1	0	0	0	0	0	0	0	1	2252	117	5	5		5	C4orf17	4	100460468	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4953662	100460468	90693808	240	144321											
PPP3CA	5530	broad.mit.edu	37	chr4	101961640	101961640	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agagtacgaatgcacccaccTgagcactgagaacactctgg	10	12	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:101961640T>A	uc011cen.1	-	11	1915	c.1240A>T	c.(1240-1242)AGA>TGA	p.R414*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.R414*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.R372*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.R401*|PPP3CA_uc003hvs.2_Nonsense_Mutation_p.R347*|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.R182*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	414	Calmodulin-binding (Potential).				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGCACCCACCTGAGCACTGAG	0.378													A	101961640	T	A	101961640	4	1	280	1	0	0	0	0	0	1	0	0	12397	1594	55	5	341	5	PPP3CA	4	101961640	Nonsense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1501172	101961640	89192636	241	144322											
LEF1	51176	broad.mit.edu	37	chr4	108985525	108985527	+	In_Frame_Del	DEL	TCT	TCT	-													ctgtagtttctctctcttccTcttctttttcttaccctgga					rs140302545		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:108985524_108985526CTCT>C	uc003hyt.2	-	9	2320_2322	c.1131_1133AGAG>G	c.(1129-1134)aagagg>aaGg	p.R378del	LEF1_uc011cfj.1_In_Frame_Del_p.R235del|LEF1_uc011cfk.2_In_Frame_Del_p.R282del|LEF1_uc003hyu.2_In_Frame_Del_p.R350del|LEF1_uc003hyv.2_In_Frame_Del_p.R350del|LEF1_uc010imb.2_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	378	Poly-Lys.				T-helper 1 cell differentiation|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 DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|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	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor 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)		CTCTCTCTTCCTCTTCTTTTTCT	0.443													-	108985527	TCT	-	108985525	7	5	280	1	0	1	0	1	0	0	0	0	8714	1550	54	0	159	0	LEF1	4	108985525	In_Frame_Del	DEL	TCT	TCGA-HU-A4H4-01A-21D-A25D-08	7023885	108985525	82168751	242	144323											
C4orf21	55345	broad.mit.edu	37	chr4	113524722	113524722	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgctaggtaactctggTgtctctgtcataaagttttc	9	9	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:113524722T>C	uc003iau.2	-	10	3145	c.2934A>G	c.(2932-2934)ACA>ACG	p.T978T	C4orf21_uc003iaw.2_Silent_p.T978T	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTAACTCTGGTGTCTCTGTCA	0.383													C	113524722	T	C	113524722	2	2	280	1	0	0	0	0	0	0	0	1	2254	1683	59	3		3	C4orf21	4	113524722	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4539197	113524722	77629554	243	144324											
NDST4	64579	broad.mit.edu	37	chr4	115773957	115773957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccagatgtctttgtgTcgtttatcatcacatggatt	9	8	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:115773957T>C	uc003ibu.2	-	8	2419	c.1740A>G	c.(1738-1740)CGA>CGG	p.R580R	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	580	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTCTTTGTGTCGTTTATCAT	0.368													C	115773957	T	C	115773957	2	2	280	1	0	0	0	0	0	0	0	1	10258	1654	58	3		3	NDST4	4	115773957	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2249235	115773957	75380319	244	144325											
KIAA1109	84162	broad.mit.edu	37	chr4	123283396	123283396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaagacaaagaagaAcactaaaaaagtaatttgat	7	4	0	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:123283396A>G	uc003ieh.2	+	84	15057	c.15012A>G	c.(15010-15012)GAA>GAG	p.E5004E	KIAA1109_uc003iem.2_Silent_p.E1360E	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	5004					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACAAAGAAGAACACTAAAAAA	0.303													G	123283396	A	G	123283396	2	3	280	1	0	0	0	0	0	0	0	1	8208	40	2	3		3	KIAA1109	4	123283396	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	7509439	123283396	67870880	245	144326											
ADAD1	132612	broad.mit.edu	37	chr4	123336654	123336654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacctcatattagtttagTaccctctgcatatccccttc	4	14	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:123336654T>C	uc003ieo.2	+	11	1602	c.1370T>C	c.(1369-1371)GTA>GCA	p.V457A	ADAD1_uc003iep.2_Missense_Mutation_p.V446A|ADAD1_uc003ieq.2_Missense_Mutation_p.V439A	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	457	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						ATTAGTTTAGTACCCTCTGCA	0.393													C	123336654	T	C	123336654	3	2	280	1	0	0	0	0	1	0	0	0	231	1638	57	3	1404	3	ADAD1	4	123336654	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	53258	123336654	67817622	246	144327											
ADAD1	132612	broad.mit.edu	37	chr4	123342544	123342544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtacatatcatgcagctaAggtaagtccttaaaggaata	9	6	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:123342544A>C	uc003ieo.2	+	12	1848	c.1616A>C	c.(1615-1617)AAG>ACG	p.K539T	ADAD1_uc003iep.2_Missense_Mutation_p.K528T|ADAD1_uc003ieq.2_Missense_Mutation_p.K521T	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	539	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						CATGCAGCTAAGGTAAGTCCT	0.338													C	123342544	A	C	123342544	3	2	280	1	0	0	0	0	1	0	0	0	231	86	3	5	1654	5	ADAD1	4	123342544	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5890	123342544	67811732	247	144328											
NUDT6	11162	broad.mit.edu	37	chr4	123814250	123814250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgaatatggctttagGcggcagatgatatacatatc	11	5	0	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:123814250G>A	uc003iew.2	-	5	716	c.684C>T	c.(682-684)CGC>CGT	p.R228R	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.R59R	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	228	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity				0						ATGGCTTTAGGCGGCAGATGA	0.418													A	123814250	G	A	123814250	2	1	280	1	0	0	0	0	0	0	0	1	10743	1190	42	2		2	NUDT6	4	123814250	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	471706	123814250	67340026	248	144329											
ANKRD50	57182	broad.mit.edu	37	chr4	125590260	125590260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtatccctccaacacttccTgatgccctctatcttgcatt	5	15	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:125590260T>C	uc003ifg.3	-	3	4438	c.4172A>G	c.(4171-4173)CAG>CGG	p.Q1391R	ANKRD50_uc011cgo.1_Missense_Mutation_p.Q1212R|ANKRD50_uc010inw.2_Missense_Mutation_p.Q1391R	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1391										central_nervous_system(1)	1						CAACACTTCCTGATGCCCTCT	0.413													C	125590260	T	C	125590260	3	2	280	1	0	0	0	0	1	0	0	0	677	1580	55	3	121	3	ANKRD50	4	125590260	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1776010	125590260	65564016	249	144330											
HHIP	64399	broad.mit.edu	37	chr4	145640026	145640026	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttatttctttctttaacaGgtgaagtttacattttatca	5	5	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:145640026G>T	uc003ijs.1	+	11	2334	c.1679_splice	c.e11-1	p.G560_splice		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor							cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTCTTTAACAGGTGAAGTTTA	0.333													T	145640026	G	T	145640026	5	4	280	1	0	0	0	0	0	0	1	0	7092	1014	35	5	1720	5	HHIP	4	145640026	Splice_Site	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	20049766	145640026	45514250	250	144331											
ABCE1	6059	broad.mit.edu	37	chr4	146025624	146025624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatgtaaacctaagaaAtgtcgacaggaatgcaaaaa	8	6	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:146025624A>G	uc003ijx.2	+	2	500	c.60A>G	c.(58-60)AAA>AAG	p.K20K	ABCE1_uc003ijy.2_Silent_p.K20K|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	20	4Fe-4S ferredoxin-type 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			skin(1)	1	all_hematologic(180;0.151)					AACCTAAGAAATGTCGACAGG	0.363													G	146025624	A	G	146025624	2	3	280	1	0	0	0	0	0	0	0	1	64	98	4	3		3	ABCE1	4	146025624	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	385598	146025624	45128652	251	144332											
FHDC1	85462	broad.mit.edu	37	chr4	153897212	153897212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcgaccagagctgtcAtcccgggggccctcccagaa	14	14	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:153897212A>G	uc003inf.2	+	11	2844	c.2769A>G	c.(2767-2769)TCA>TCG	p.S923S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	923					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CAGAGCTGTCATCCCGGGGGC	0.662													G	153897212	A	G	153897212	2	3	280	1	0	0	0	0	0	0	0	1	5876	204	8	3		3	FHDC1	4	153897212	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	7871588	153897212	37257064	252	144333											
GUCY1A3	2982	broad.mit.edu	37	chr4	156618035	156618035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatgttctgcacgaagCtcaaggatctcaagatcaca	7	12	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:156618035C>T	uc003iov.2	+	4	552	c.16C>T	c.(16-18)CTC>TTC	p.L6F	GUCY1A3_uc003iou.2_Missense_Mutation_p.L6F|GUCY1A3_uc010iqc.2_Missense_Mutation_p.L6F|GUCY1A3_uc003iow.2_Missense_Mutation_p.L6F|GUCY1A3_uc010iqd.2_Missense_Mutation_p.L6F|GUCY1A3_uc003iox.2_Missense_Mutation_p.L6F|GUCY1A3_uc003ioz.2_Intron|GUCY1A3_uc003ioy.2_Missense_Mutation_p.L6F|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.L6F	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	6					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(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGCACGAAGCTCAAGGATCT	0.493													T	156618035	C	T	156618035	3	4	280	1	0	0	0	0	1	0	0	0	6894	797	28	2	18	2	GUCY1A3	4	156618035	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2720823	156618035	34536241	253	144334											
RAPGEF2	9693	broad.mit.edu	37	chr4	160273979	160273979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgagaggcgccagaggcaTtctgtcagcatcgtggaaac	14	9	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:160273979T>C	uc003iqg.3	+	21	3835	c.3525T>C	c.(3523-3525)CAT>CAC	p.H1175H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1175					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			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCCAGAGGCATTCTGTCAGCA	0.483													C	160273979	T	C	160273979	2	2	280	1	0	0	0	0	0	0	0	1	13044	1490	52	3		3	RAPGEF2	4	160273979	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3655944	160273979	30880297	254	144335											
SH3RF1	57630	broad.mit.edu	37	chr4	170028302	170028302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaggagacacgcgggGcttccgtttagtggaggcgc	18	9	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:170028302G>A	uc003isa.1	-	11	2529	c.2194C>T	c.(2194-2196)CCC>TCC	p.P732S		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	732						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GACACGCGGGGCTTCCGTTTA	0.532													A	170028302	G	A	170028302	3	1	280	1	0	0	0	0	1	0	0	0	14258	1203	42	2	480	2	SH3RF1	4	170028302	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	9754323	170028302	21125974	255	144336											
WDR17	116966	broad.mit.edu	37	chr4	177063174	177063174	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagtgctacacaaatatAaacatccagctgcagtgttt	7	8	0	0	rs77119360		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:177063174A>C	uc003iuj.2	+	12	1711	c.1555A>C	c.(1555-1557)AAA>CAA	p.K519Q	WDR17_uc003iuk.2_Missense_Mutation_p.K495Q|WDR17_uc003ium.3_Missense_Mutation_p.K495Q|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	519	WD 9.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		ACACAAATATAAACATCCAGC	0.259													C	177063174	A	C	177063174	3	2	280	1	0	0	0	0	1	0	0	0	17274	363	13	5	1597	5	WDR17	4	177063174	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	7034872	177063174	14091102	256	144337											
NEIL3	55247	broad.mit.edu	37	chr4	178283481	178283481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattctgcaaccatggcaaGcgttccaccatgaaaacagt	7	13	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:178283481G>A	uc003iut.2	+	10	1791	c.1674G>A	c.(1672-1674)AAG>AAA	p.K558K		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	558					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			lung(2)|ovary(1)|central_nervous_system(1)	4		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)		ACCATGGCAAGCGTTCCACCA	0.373								BER_DNA_glycosylases					A	178283481	G	A	178283481	2	1	280	1	0	0	0	0	0	0	0	1	10320	962	34	2		2	NEIL3	4	178283481	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1220307	178283481	12870795	257	144338											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367704	184367704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagcagctcagagatcgaGgtgcccttgttgggctcctc	12	12	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:184367704G>T	uc003ivp.1	+	3	1029	c.867G>T	c.(865-867)GAG>GAT	p.E289D	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.E34D	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	289	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				0		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)		CAGAGATCGAGGTGCCCTTGT	0.468													T	184367704	G	T	184367704	3	4	280	1	0	0	0	0	1	0	0	0	3162	991	35	5	877	5	CDKN2AIP	4	184367704	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6084223	184367704	6786572	258	144339											
MTNR1A	4543	broad.mit.edu	37	chr4	187454870	187454870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtccacctttactacattAttgttggtcatcagtggaga	9	8	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr4:187454870A>G	uc003izd.1	-	2	1044	c.1026T>C	c.(1024-1026)AAT>AAC	p.N342N		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	342	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		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)	TTACTACATTATTGTTGGTCA	0.502													G	187454870	A	G	187454870	2	3	280	1	0	0	0	0	0	0	0	1	9951	446	16	3		3	MTNR1A	4	187454870	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3087166	187454870	3699406	259	144340											
IRX2	153572	broad.mit.edu	37	chr5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttctccttcttgaggCgccggcgcgcgttggcgaac	13	13	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:2749639C>T	uc003jda.2	-	2	754	c.512G>A	c.(511-513)CGC>CAC	p.R171H	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.R171H	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	171	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592													T	2749639	C	T	2749639	3	4	280	1	0	0	0	0	1	0	0	0	7844	768	27	1	915	1	IRX2	5	2749639	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08		2749639	178165621	260	144341											
SEMA5A	9037	broad.mit.edu	37	chr5	9108296	9108296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattctcacagatcctgcGgcgagcttgaatgccacccc	8	17	1	2	rs147869499		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:9108296G>A	uc003jek.2	-	16	2741	c.2029C>T	c.(2029-2031)CGC>TGC	p.R677C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	677	TSP type-1 3.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CAGATCCTGCGGCGAGCTTGA	0.562													A	9108296	G	A	9108296	3	1	280	1	0	0	0	0	1	0	0	0	14037	1116	39	1	1227	1	SEMA5A	5	9108296	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6358657	9108296	171806964	261	144342											
CDH18	1016	broad.mit.edu	37	chr5	19503152	19503152	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacaggcaggcgttcatcaaGaaagaagttaaaccttggtc	10	8	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:19503152G>A	uc003jgc.2	-	10	1956	c.1579C>T	c.(1579-1581)CTT>TTT	p.L527F	CDH18_uc003jgd.2_Missense_Mutation_p.L527F|CDH18_uc011cnm.1_Missense_Mutation_p.L527F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	527	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CGTTCATCAAGAAAGAAGTTA	0.348													A	19503152	G	A	19503152	3	1	280	1	0	0	0	0	1	0	0	0	3103	942	33	4	805	4	CDH18	5	19503152	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	10394856	19503152	161412108	262	144343											
RXFP3	51289	broad.mit.edu	37	chr5	33938167	33938167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccgccccacgcggccgCggagccggacctgctctact	14	19	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:33938167C>T	uc003jic.1	+	1	1679	c.1322C>T	c.(1321-1323)GCG>GTG	p.A441V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	441	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						cacgcggccgcggAGCCGGAC	0.567													T	33938167	C	T	33938167	3	4	280	1	0	0	0	0	1	0	0	0	13761	768	27	1	1324	1	RXFP3	5	33938167	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	14435015	33938167	146977093	263	144344											
RAI14	26064	broad.mit.edu	37	chr5	34823297	34823298	+	Frame_Shift_Del	DEL	AG	AG	-													agattagagagctctgaagcAgagagaaaacagctacaggt							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:34823296_34823297CAG>C	uc003jis.3	+	16	1897_1898	c.1358_1359CAG>C	c.(1357-1359)gcafs	p.A453fs	RAI14_uc003jir.3_Frame_Shift_Del_p.A450fs|RAI14_uc010iur.3_Frame_Shift_Del_p.A421fs|RAI14_uc011coj.2_Frame_Shift_Del_p.A450fs|RAI14_uc003jit.3_Frame_Shift_Del_p.A450fs|RAI14_uc011cok.2_Frame_Shift_Del_p.A442fs	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	450						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)					AGCTCTGAAGCAGAGAGAAAAC	0.426													-	34823298	AG	-	34823297	7	5	280	1	0	1	0	1	0	0	0	0	13008	175	7	0	1469	0	RAI14	5	34823297	Frame_Shift_Del	DEL	AG	TCGA-HU-A4H4-01A-21D-A25D-08	885130	34823297	146091963	264	144345											
SPEF2	79925	broad.mit.edu	37	chr5	35641676	35641676	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttatatcaattgtacaTtgctcttcagaaaaagaaga	7	6	3	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:35641676T>G	uc003jjo.2	+	3	416	c.305T>G	c.(304-306)ATT>AGT	p.I102S	SPEF2_uc003jjn.1_Missense_Mutation_p.I102S|SPEF2_uc003jjq.3_Missense_Mutation_p.I102S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	102	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATTGTACATTGCTCTTCAG	0.413													G	35641676	T	G	35641676	3	3	280	1	0	0	0	0	1	0	0	0	15034	1493	52	5	315	5	SPEF2	5	35641676	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	818379	35641676	145273584	265	144346											
SPEF2	79925	broad.mit.edu	37	chr5	35641743	35641743	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaccatgcaacgtctgacAaatttaagacttcaaaacat	4	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:35641743A>G	uc003jjo.2	+	3	483	c.372A>G	c.(370-372)ACA>ACG	p.T124T	SPEF2_uc003jjn.1_Silent_p.T124T|SPEF2_uc003jjq.3_Silent_p.T124T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	124					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACGTCTGACAAATTTAAGAC	0.348													G	35641743	A	G	35641743	2	3	280	1	0	0	0	0	0	0	0	1	15034	117	5	3		3	SPEF2	5	35641743	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	67	35641743	145273517	266	144347											
WDR70	55100	broad.mit.edu	37	chr5	37516665	37516665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcatcccaaaataaaggGagaatttatgacttgctcaa	8	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:37516665G>A	uc003jkv.2	+	9	948	c.890G>A	c.(889-891)GGA>GAA	p.G297E	WDR70_uc010iva.1_Missense_Mutation_p.G297E	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	297	WD 3.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAATAAAGGGAGAATTTATG	0.303													A	37516665	G	A	37516665	3	1	280	1	0	0	0	0	1	0	0	0	17318	1174	41	4	924	4	WDR70	5	37516665	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1874922	37516665	143398595	267	144348											
CARD6	84674	broad.mit.edu	37	chr5	40853351	40853351	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttctcttcttgcctcagAtgtgtgtctgtggaggatat	11	7	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:40853351A>G	uc003jmg.2	+	3	1992	c.1917A>G	c.(1915-1917)AGA>AGG	p.R639R		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	639					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						CTTGCCTCAGATGTGTGTCTG	0.517													G	40853351	A	G	40853351	2	3	280	1	0	0	0	0	0	0	0	1	2650	330	12	3		3	CARD6	5	40853351	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3336686	40853351	140061909	268	144349											
RASGRF2	5924	broad.mit.edu	37	chr5	80388671	80388671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaacttagtaaagttcGcctgggttcgttgtctttga	13	6	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:80388671G>A	uc003kha.1	+	10	1442	c.1442G>A	c.(1441-1443)CGC>CAC	p.R481H	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	481	PH 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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		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)		AGTAAAGTTCGCCTGGGTTCG	0.368													A	80388671	G	A	80388671	3	1	280	1	0	0	0	0	1	0	0	0	13073	1087	38	1	1480	1	RASGRF2	5	80388671	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	39535320	80388671	100526589	269	144350											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834355	101834355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttggcttttttcctttttCggaaaccgccgaaccttatc	6	12	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:101834355C>T	uc003knn.2	-	1	366	c.194G>A	c.(193-195)CGA>CAA	p.R65Q	SLCO6A1_uc003kno.2_Missense_Mutation_p.R65Q|SLCO6A1_uc003knp.2_Missense_Mutation_p.R65Q|SLCO6A1_uc003knq.2_Missense_Mutation_p.R65Q	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	65	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		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)		TTTCCTTTTTCGGAAACCGCC	0.542													T	101834355	C	T	101834355	3	4	280	1	0	0	0	0	1	0	0	0	14732	884	31	1	2017	1	SLCO6A1	5	101834355	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	21445684	101834355	79080905	270	144351											
WDR36	134430	broad.mit.edu	37	chr5	110436294	110436294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcacttttgtagaagaatAcctgcagttgacttttgata	7	6	1	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:110436294A>G	uc003kpd.2	+	5	701	c.584A>G	c.(583-585)TAC>TGC	p.Y195C	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	195	WD 1.				response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		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)		GTAGAAGAATACCTGCAGTTG	0.264													G	110436294	A	G	110436294	3	3	280	1	0	0	0	0	1	0	0	0	17287	391	14	3	602	3	WDR36	5	110436294	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	8601939	110436294	70478966	271	144352											
APC	324	broad.mit.edu	37	chr5	112174057	112174057	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatgagagaaatgcactTagaagaagctctgctgccca	10	9	1	5			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:112174057T>C	uc010jby.2	+	16	3146	c.2766T>C	c.(2764-2766)CTT>CTC	p.L922L	APC_uc011cvt.1_Silent_p.L904L|APC_uc003kpz.3_Silent_p.L922L|APC_uc003kpy.3_Silent_p.L922L|APC_uc010jbz.2_Silent_p.L639L|APC_uc010jca.2_Silent_p.L222L	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	922	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)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)		GAAATGCACTTAGAAGAAGCT	0.393		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			C	112174057	T	C	112174057	2	2	280	1	0	0	0	0	0	0	0	1	763	1741	61	3		3	APC	5	112174057	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1737763	112174057	68741203	272	144353											
FTMT	94033	broad.mit.edu	37	chr5	121187884	121187884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaacttccaccccgacTccgaggctgccatcaaccgc	8	19	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:121187884T>C	uc003kss.2	+	1	235	c.226T>C	c.(226-228)TCC>CCC	p.S76P		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	76	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCACCCCGACTCCGAGGCTGC	0.682													C	121187884	T	C	121187884	3	2	280	1	0	0	0	0	1	0	0	0	6085	1551	54	3	228	3	FTMT	5	121187884	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	9013827	121187884	59727376	273	144354											
CTXN3	613212	broad.mit.edu	37	chr5	126993191	126993191	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagaaaaccaggatatcCtgtgctctggcttccctgga	10	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:126993191C>A	uc003kul.3	+	3	552	c.-22C>A	c.(-24--20)TCCTG>TCATG		CTXN3_uc003kum.3_Translation_Start_Site	NM_001048252	NP_001041717	Q4LDR2	CTXN3_HUMAN	cortexin 3							integral to membrane					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		CCAGGATATCCTGTGCTCTGG	0.532													A	126993191	C	A	126993191	1	1	280	1	0	0	0	0	0	0	0	0	4050	696	24	5		5	CTXN3	5	126993191	Translation_Start_Site	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	5805307	126993191	53922069	274	144355											
C5orf32	84418	broad.mit.edu	37	chr5	139574218	139574218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcagggtggacctcaGgagcctcctaaaaccacagg	14	12	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:139574218G>T	uc003lfd.2	+	2	406	c.168G>T	c.(166-168)CAG>CAT	p.Q56H	C5orf32_uc010jfi.2_Intron	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN	hypothetical protein LOC84418	56	Pro-rich.										0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGACCTCAGGAGCCTCCTA	0.532													T	139574218	G	T	139574218	3	4	280	1	0	0	0	0	1	0	0	0	2291	991	35	5	170	5	C5orf32	5	139574218	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	12581027	139574218	41341042	275	144356											
PCDHA9	9752	broad.mit.edu	37	chr5	140229950	140229950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgagcatcccgttccgcGtggggctgtacacgggcgag	17	13	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140229950G>A	uc003lhu.2	+	1	2594	c.1870G>A	c.(1870-1872)GTG>ATG	p.V624M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V624M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	624	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V624M(1)		large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTTCCGCGTGGGGCTGTA	0.672													A	140229950	G	A	140229950	3	1	280	1	0	0	0	0	1	0	0	0	11531	1145	40	1	1872	1	PCDHA9	5	140229950	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	655732	140229950	40685310	276	144357											
PCDHA11	56138	broad.mit.edu	37	chr5	140249772	140249772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccagtacgagaggacGctcagcccagcacggtcatt	10	16	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140249772G>A	uc003lia.2	+	1	1942	c.1084G>A	c.(1084-1086)GCT>ACT	p.A362T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A362T	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	362	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAGAGGACGCTCAGCCCAG	0.572													A	140249772	G	A	140249772	3	1	280	1	0	0	0	0	1	0	0	0	11521	1087	38	1	1086	1	PCDHA11	5	140249772	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	19822	140249772	40665488	277	144358											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308912	140308912	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctaatgtcaatgccatggTaagcaaattttatggaattt	8	6	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140308912T>C	uc003lih.2	+	1	2609	c.2433_splice	c.e1+2	p.M811_splice	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.V812A	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1						homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCATGGTAAGCAAATTT	0.403													C	140308912	T	C	140308912	5	2	280	1	0	0	0	0	0	0	1	0	11532	1652	57	3	2437	3	PCDHAC1	5	140308912	Splice_Site	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	59140	140308912	40606348	278	144359											
PCDHB7	56129	broad.mit.edu	37	chr5	140552971	140552971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catattaatgtccatgatagCggggaggggaatatctatcc	11	7	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140552971C>T	uc003lit.2	+	1	729	c.555C>T	c.(553-555)AGC>AGT	p.S185S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	185	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATGATAGCGGGGAGGGGA	0.483													T	140552971	C	T	140552971	2	4	280	1	0	0	0	0	0	0	0	1	11547	767	27	1		1	PCDHB7	5	140552971	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	244059	140552971	40362289	279	144360											
PCDHB11	56125	broad.mit.edu	37	chr5	140580496	140580496	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaacggaagaattgtttgTtccattccggaagacctccc	9	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140580496T>C	uc003liy.2	+	1	1149	c.1149T>C	c.(1147-1149)TGT>TGC	p.C383C	PCDHB11_uc011daj.1_Silent_p.C18C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	383	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTGTTTGTTCCATTCCGG	0.448													C	140580496	T	C	140580496	2	2	280	1	0	0	0	0	0	0	0	1	11536	1731	60	3		3	PCDHB11	5	140580496	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	27525	140580496	40334764	280	144361											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711907	140711907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctctcagcctattcctGctggaccagaacgacaacgc	9	14	2	1	rs115095833	byFrequency	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140711907G>A	uc003lji.1	+	1	1656	c.1656G>A	c.(1654-1656)CTG>CTA	p.L552L	PCDHGA1_uc011dan.1_Silent_p.L552L	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	552	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTATTCCTGCTGGACCAGA	0.637													A	140711907	G	A	140711907	2	1	280	1	0	0	0	0	0	0	0	1	11550	1306	46	2		2	PCDHGA1	5	140711907	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	131411	140711907	40203353	281	144362											
PCDHGB5	56101	broad.mit.edu	37	chr5	140778762	140778762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgattctggaaaacgcGgtgcctggaacactaattgc	11	8	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140778762G>A	uc003lkf.1	+	1	1068	c.1068G>A	c.(1066-1068)GCG>GCA	p.A356A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.A356A	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	356	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAAACGCGGTGCCTGGAA	0.373													A	140778762	G	A	140778762	2	1	280	1	0	0	0	0	0	0	0	1	11566	1103	39	1		1	PCDHGB5	5	140778762	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	66855	140778762	40136498	282	144363											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794641	140794641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgaggtgcgcacggcGcgagccctgctggacagaga	18	12	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:140794641G>A	uc003lkl.1	+	1	1899	c.1899G>A	c.(1897-1899)GCG>GCA	p.A633A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.A633A|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.697													A	140794641	G	A	140794641	2	1	280	1	0	0	0	0	0	0	0	1	11551	1074	38	1		1	PCDHGA10	5	140794641	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	15879	140794641	40120619	283	144364											
KIAA0141	9812	broad.mit.edu	37	chr5	141318154	141318154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctccctctgcagcttgAacaccctgctagcaggaacc	8	18	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:141318154A>G	uc003lls.2	+	12	1500	c.1378A>G	c.(1378-1380)AAC>GAC	p.N460D	KIAA0141_uc003llt.2_Missense_Mutation_p.N460D|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	460					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGCTTGAACACCCTGCT	0.592													G	141318154	A	G	141318154	3	3	280	1	0	0	0	0	1	0	0	0	8156	246	9	3	1424	3	KIAA0141	5	141318154	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	523513	141318154	39597106	284	144365											
RBM27	54439	broad.mit.edu	37	chr5	145664188	145664188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaatatatattttagaccGcaaaccaagggccaaaattt	5	8	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:145664188G>A	uc003lnz.3	+	20	3158	c.2992G>A	c.(2992-2994)GCA>ACA	p.A998T		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	998					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTTAGACCGCAAACCAAGG	0.363													A	145664188	G	A	145664188	3	1	280	1	0	0	0	0	1	0	0	0	13127	1087	38	1	3070	1	RBM27	5	145664188	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4346034	145664188	35251072	285	144366											
GPR151	134391	broad.mit.edu	37	chr5	145895470	145895470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagtggatcatggatggCtttcctttccaagcattgtg	13	7	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:145895470C>T	uc003lod.1	-	1	207	c.207G>A	c.(205-207)AAG>AAA	p.K69K		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	69	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATGGATGGCTTTCCTTTCC	0.537													T	145895470	C	T	145895470	2	4	280	1	0	0	0	0	0	0	0	1	6657	796	28	2		2	GPR151	5	145895470	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	231282	145895470	35019790	286	144367											
JAKMIP2	9832	broad.mit.edu	37	chr5	147016541	147016541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctacctgccctttctgaGccagagtcgcttccaggtct	9	15	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:147016541G>T	uc003loq.1	-	11	1983	c.1601C>A	c.(1600-1602)GCT>GAT	p.A534D	JAKMIP2_uc011dbx.1_Missense_Mutation_p.A492D|JAKMIP2_uc003lor.1_Missense_Mutation_p.A534D|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.A534D	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	534	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTTCTGAGCCAGAGTCGC	0.502													T	147016541	G	T	147016541	3	4	280	1	0	0	0	0	1	0	0	0	7941	971	34	5	875	5	JAKMIP2	5	147016541	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1121071	147016541	33898719	287	144368											
CSF1R	1436	broad.mit.edu	37	chr5	149457796	149457796	+	Frame_Shift_Del	DEL	G	G	-													caggcaccagtgtcaaggctGggggccctgggatgactgag							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:149457795_149457795TG>T	uc003lrl.3	-	3	804	c.609_609CA>A	c.(607-609)ccafs	p.P203fs	CSF1R_uc011dcd.2_Frame_Shift_Del_p.P55fs|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.P203fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.P203fs|CSF1R_uc011dcf.2_Frame_Shift_Del_p.P203fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	203	Ig-like C2-type 3.				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)	GTGTCAAGGCTGGGGGCCCTG	0.597													-	149457796	G	-	149457796	7	5	280	1	0	1	0	1	0	0	0	0	3932	1348	47	0	2382	0	CSF1R	5	149457796	Frame_Shift_Del	DEL	G	TCGA-HU-A4H4-01A-21D-A25D-08	2441255	149457796	31457464	288	144369											
PDGFRB	5159	broad.mit.edu	37	chr5	149506146	149506146	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaccaccagggccaggatGgctgagatcaccaccacctt	10	15	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:149506146G>T	uc003lro.2	-	11	2080	c.1611C>A	c.(1609-1611)GCC>GCA	p.A537A	PDGFRB_uc010jhd.2_Silent_p.A376A	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	537	Helical; (Potential).				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			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCCAGGATGGCTGAGATCA	0.582			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								T	149506146	G	T	149506146	2	4	280	1	0	0	0	0	0	0	0	1	11662	1335	47	5		5	PDGFRB	5	149506146	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	48350	149506146	31409114	289	144370											
TNIP1	10318	broad.mit.edu	37	chr5	150436498	150436498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatcaggttgccgtcctcAcggggcagggggcccagcgc	16	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:150436498A>G	uc003ltf.2	-	6	1045	c.456T>C	c.(454-456)CGT>CGC	p.R152R	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Silent_p.R152R|TNIP1_uc010jhn.2_Silent_p.R152R|TNIP1_uc011dco.1_Silent_p.R152R|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Silent_p.R152R|TNIP1_uc003ltg.2_Silent_p.R99R|TNIP1_uc003ltj.2_Silent_p.R152R|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Silent_p.R99R|TNIP1_uc010jhp.1_Silent_p.R99R|TNIP1_uc010jhr.1_Silent_p.R152R|TNIP1_uc003ltk.2_Silent_p.R152R	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	152	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGTCCTCACGGGGCAGGG	0.677													G	150436498	A	G	150436498	2	3	280	1	0	0	0	0	0	0	0	1	16311	146	6	3		3	TNIP1	5	150436498	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	930352	150436498	30478762	290	144371											
SLC36A1	206358	broad.mit.edu	37	chr5	150844683	150844683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactgtgatgtatggactAgaatccagcccctgctcctg	10	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:150844683A>G	uc003luc.2	+	5	589	c.372A>G	c.(370-372)CTA>CTG	p.L124L	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Silent_p.L124L|SLC36A1_uc010jhw.1_Silent_p.L124L	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	124	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TGTATGGACTAGAATCCAGCC	0.507													G	150844683	A	G	150844683	2	3	280	1	0	0	0	0	0	0	0	1	14593	407	15	3		3	SLC36A1	5	150844683	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	408185	150844683	30070577	291	144372											
THG1L	54974	broad.mit.edu	37	chr5	157166483	157166483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagagattctagatgaagAcagctgacccttttgcgctt	9	10	1	5			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:157166483A>G	uc003lxd.2	+	6	1016	c.890A>G	c.(889-891)GAC>GGC	p.D297G	THG1L_uc011ddu.1_Missense_Mutation_p.D165G	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	297					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAGATGAAGACAGCTGACCC	0.547													G	157166483	A	G	157166483	3	3	280	1	0	0	0	0	1	0	0	0	15858	275	10	3	912	3	THG1L	5	157166483	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	6321800	157166483	23748777	292	144373											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						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)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	280	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	1429583	158596066	22319194	293	144374											
SLIT3	6586	broad.mit.edu	37	chr5	168244441	168244441	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaggccaggtggcagtcGcagtacaggtggttggagtg	18	8	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:168244441G>T	uc003mab.2	-	8	1077	c.657C>A	c.(655-657)TGC>TGA	p.C219*	SLIT3_uc010jjg.2_Nonsense_Mutation_p.C219*|SLIT3_uc010jji.2_Nonsense_Mutation_p.C219*|SLIT3_uc003mac.1_Nonsense_Mutation_p.C16*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	219	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			ovary(3)|skin(1)	4	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)			GGTGGCAGTCGCAGTACAGGT	0.612													T	168244441	G	T	168244441	4	4	280	1	0	0	0	0	0	1	0	0	14741	1079	38	5	4030	5	SLIT3	5	168244441	Nonsense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	9648375	168244441	12670819	294	144375											
FOXI1	2299	broad.mit.edu	37	chr5	169533358	169533358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctactcggctctcatcGccatggccatccacggggca	9	16	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:169533358G>A	uc003mai.3	+	1	442	c.397G>A	c.(397-399)GCC>ACC	p.A133T	FOXI1_uc003maj.3_Missense_Mutation_p.A133T	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	133	Fork-head.				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(1)	4	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)			GGCTCTCATCGCCATGGCCAT	0.642									Pendred_syndrome				A	169533358	G	A	169533358	3	1	280	1	0	0	0	0	1	0	0	0	6009	1087	38	1	399	1	FOXI1	5	169533358	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1288917	169533358	11381902	295	144376											
STK10	6793	broad.mit.edu	37	chr5	171488177	171488177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttcatgaggcactcGcgctccttgtcacagatctc	8	14	4	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:171488177G>A	uc003mbo.1	-	14	2478	c.2178C>T	c.(2176-2178)CGC>CGT	p.R726R		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	726	Potential.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	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)			TGAGGCACTCGCGCTCCTTGT	0.612													A	171488177	G	A	171488177	2	1	280	1	0	0	0	0	0	0	0	1	15285	1074	38	1		1	STK10	5	171488177	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1954819	171488177	9427083	296	144377											
KIAA1191	57179	broad.mit.edu	37	chr5	175777642	175777642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcggccactcgaaggtActtggtctcctcggtggtga	13	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:175777642A>C	uc003mdw.2	-	6	805	c.433T>G	c.(433-435)TAC>GAC	p.Y145D	KIAA1191_uc003mdx.2_Missense_Mutation_p.Y126D|KIAA1191_uc003mdy.2_Missense_Mutation_p.Y145D|KIAA1191_uc003mea.2_Intron|KIAA1191_uc003mdz.2_Intron	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	145							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ACTCGAAGGTACTTGGTCTCC	0.502													C	175777642	A	C	175777642	3	2	280	1	0	0	0	0	1	0	0	0	8212	391	14	5	500	5	KIAA1191	5	175777642	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4289465	175777642	5137618	297	144378											
PFN3	345456	broad.mit.edu	37	chr5	176827261	176827261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccattagcaccaggagcGcgcgcggcgcacggcccacg	15	17	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:176827261G>A	uc003mgl.2	-	1	377	c.317C>T	c.(316-318)GCG>GTG	p.A106V		NM_001029886	NP_001025057	P60673	PROF3_HUMAN	profilin 3	106					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding				0	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)			CACCAGGAGCGCGCGCGGCGC	0.716													A	176827261	G	A	176827261	3	1	280	1	0	0	0	0	1	0	0	0	11769	1087	38	1	100	1	PFN3	5	176827261	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1049619	176827261	4087999	298	144379											
FLT4	2324	broad.mit.edu	37	chr5	180039544	180039544	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagcaggtcccccaggatctCcaccagctccgagaatgcag	11	15	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr5:180039544C>A	uc003mma.3	-	26	3578	c.3499G>T	c.(3499-3501)GAG>TAG	p.E1167*	FLT4_uc003mlz.3_Nonsense_Mutation_p.E1167*	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1167	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	CCCAGGATCTCCACCAGCTCC	0.657									Congenital_Hereditary_Lymphedema				A	180039544	C	A	180039544	4	1	280	1	0	0	0	0	0	1	0	0	5944	864	30	5	620	5	FLT4	5	180039544	Nonsense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3212283	180039544	875716	299	144380											
GCM2	9247	broad.mit.edu	37	chr6	10874777	10874777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttgttggtgaaatcAaagcttctctcatagctgct	9	8	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:10874777A>G	uc003mzn.3	-	5	1044	c.972T>C	c.(970-972)TTT>TTC	p.F324F	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	324					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGAAATCAAAGCTTCTCT	0.458													G	10874777	A	G	10874777	2	3	280	1	0	0	0	0	0	0	0	1	6298	127	5	3		3	GCM2	6	10874777	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		10874777	160240290	300	144381											
NEDD9	4739	broad.mit.edu	37	chr6	11191400	11191400	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtctttttccctaagcccTgcttcatcccggcaagcaga	7	14	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:11191400T>C	uc003mzv.2	-	5	869	c.702A>G	c.(700-702)GCA>GCG	p.A234A	NEDD9_uc010joz.2_Silent_p.A234A|NEDD9_uc003mzw.3_Silent_p.A88A	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	234					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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCCTAAGCCCTGCTTCATCCC	0.527													C	11191400	T	C	11191400	2	2	280	1	0	0	0	0	0	0	0	1	10313	1567	55	3		3	NEDD9	6	11191400	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	316623	11191400	159923667	301	144382											
NEDD9	4739	broad.mit.edu	37	chr6	11213531	11213531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctttttacccacgtgggGcccactggttcccccaatgc	8	17	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:11213531G>A	uc003mzv.2	-	2	609	c.442C>T	c.(442-444)CCC>TCC	p.P148S	NEDD9_uc010joz.2_Missense_Mutation_p.P148S|NEDD9_uc003mzw.3_5'UTR|NEDD9_uc003mzx.2_Missense_Mutation_p.P148S	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	148	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				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CCCACGTGGGGCCCACTGGTT	0.448													A	11213531	G	A	11213531	3	1	280	1	0	0	0	0	1	0	0	0	10313	1203	42	2	2156	2	NEDD9	6	11213531	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	22131	11213531	159901536	302	144383											
HIVEP1	3096	broad.mit.edu	37	chr6	12122666	12122666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctatgatgatgtctttGtatcgggacctaacgctcct	8	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:12122666G>A	uc003nac.2	+	4	2817	c.2638G>A	c.(2638-2640)GTA>ATA	p.V880I	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	880					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGATGTCTTTGTATCGGGACC	0.443													A	12122666	G	A	12122666	3	1	280	1	0	0	0	0	1	0	0	0	7186	1377	48	4	2648	4	HIVEP1	6	12122666	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	909135	12122666	158992401	303	144384											
HIVEP1	3096	broad.mit.edu	37	chr6	12164142	12164142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcacaaagcagcccCgcccctcaggcacacattcc	5	20	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:12164142C>T	uc003nac.2	+	9	7784	c.7605C>T	c.(7603-7605)CCC>CCT	p.P2535P	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2535					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAAGCAGCCCCGCCCCTCAGG	0.537													T	12164142	C	T	12164142	2	4	280	1	0	0	0	0	0	0	0	1	7186	639	23	1		1	HIVEP1	6	12164142	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	41476	12164142	158950925	304	144385											
HIVEP1	3096	broad.mit.edu	37	chr6	12164656	12164656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacttcagcgacgtgagcAgcgatgatgacgaggacagg	15	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:12164656A>G	uc003nac.2	+	9	8298	c.8119A>G	c.(8119-8121)AGC>GGC	p.S2707G	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2707					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGACGTGAGCAGCGATGATGA	0.478													G	12164656	A	G	12164656	3	3	280	1	0	0	0	0	1	0	0	0	7186	188	7	3	8149	3	HIVEP1	6	12164656	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	514	12164656	158950411	305	144386											
NUP153	9972	broad.mit.edu	37	chr6	17665556	17665556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaataaacacttcgatttgTtgctatggaaactggctttg	8	6	0	0	rs112957894		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:17665556T>C	uc003ncd.1	-	9	1329	c.1129A>G	c.(1129-1131)ACA>GCA	p.T377A	NUP153_uc011dje.1_Missense_Mutation_p.T377A|NUP153_uc010jpl.1_Missense_Mutation_p.T377A	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	377					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			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTTCGATTTGTTGCTATGGAA	0.348													C	17665556	T	C	17665556	3	2	280	1	0	0	0	0	1	0	0	0	10755	1725	60	3	3354	3	NUP153	6	17665556	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	5500900	17665556	153449511	306	144387											
KIF13A	63971	broad.mit.edu	37	chr6	17800233	17800233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttccccgctgctgtctaCgacttcaaggctcccacttt	7	15	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:17800233C>T	uc003ncg.3	-	21	2671	c.2566G>A	c.(2566-2568)GTA>ATA	p.V856I	KIF13A_uc003ncf.2_Missense_Mutation_p.V856I|KIF13A_uc003nch.3_Missense_Mutation_p.V856I|KIF13A_uc003nci.3_Missense_Mutation_p.V856I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	856					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			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTGCTGTCTACGACTTCAAGG	0.498													T	17800233	C	T	17800233	3	4	280	1	0	0	0	0	1	0	0	0	8274	536	19	1	2952	1	KIF13A	6	17800233	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	134677	17800233	153314834	307	144388											
MBOAT1	154141	broad.mit.edu	37	chr6	20212446	20212446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtaggaaaggctggacGgctgcggctctgctgccatc	16	11	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:20212446G>A	uc003ncx.1	-	1	225	c.20C>T	c.(19-21)CCG>CTG	p.P7L	MBOAT1_uc011dji.1_5'UTR	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	7					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	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)			AAGGCTGGACGGCTGCGGCTC	0.706													A	20212446	G	A	20212446	3	1	280	1	0	0	0	0	1	0	0	0	9356	1116	39	1	1519	1	MBOAT1	6	20212446	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2412213	20212446	150902621	308	144389											
SCGN	10590	broad.mit.edu	37	chr6	25689706	25689706	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttccttacacaggcttgTtctactgaagaaaggaaaag	8	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:25689706T>C	uc003nfb.2	+	9	782	c.579T>C	c.(577-579)TGT>TGC	p.C193C	SCGN_uc010jpz.2_Silent_p.C84C	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	193						extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						CACAGGCTTGTTCTACTGAAG	0.393													C	25689706	T	C	25689706	2	2	280	1	0	0	0	0	0	0	0	1	13903	1731	60	3		3	SCGN	6	25689706	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	5477260	25689706	145425361	309	144390											
BTN3A1	11119	broad.mit.edu	37	chr6	26411795	26411795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttcagaatggaaaaaggCcctcttcaagcctggtgagt	10	10	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:26411795C>T	uc003nhv.2	+	9	1372	c.1004C>T	c.(1003-1005)GCC>GTC	p.A335V	BTN3A1_uc011dkj.1_Missense_Mutation_p.A335V|BTN3A1_uc011dkk.1_Missense_Mutation_p.A283V|BTN3A1_uc010jqj.2_Missense_Mutation_p.A335V	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	335	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TGGAAAAAGGCCCTCTTCAAG	0.433													T	26411795	C	T	26411795	3	4	280	1	0	0	0	0	1	0	0	0	1562	739	26	2	1034	2	BTN3A1	6	26411795	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	722089	26411795	144703272	310	144391											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100511	27100511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcggggcgggagcagActtcgctggctctggcatag	15	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:27100511A>T	uc003niv.2	-	1	65	c.19T>A	c.(19-21)TCT>ACT	p.S7T	HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	7					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCGGGAGCAGACTTCGCTGGC	0.532													T	27100511	A	T	27100511	3	4	280	1	0	0	0	0	1	0	0	0	7149	275	10	5	365	5	HIST1H2BJ	6	27100511	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	688716	27100511	144014556	311	144392											
ZNF184	7738	broad.mit.edu	37	chr6	27420527	27420527	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtttatctccagtatgaaTtctttgatggtttataaggt	9	4	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:27420527T>A	uc003njj.2	-	5	1622	c.811A>T	c.(811-813)ATT>TTT	p.I271F	ZNF184_uc010jqv.2_Missense_Mutation_p.I271F|ZNF184_uc003nji.2_Missense_Mutation_p.I271F	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	271	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCAGTATGAATTCTTTGATGG	0.368													A	27420527	T	A	27420527	3	1	280	1	0	0	0	0	1	0	0	0	17748	1493	52	5	1448	5	ZNF184	6	27420527	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	320016	27420527	143694540	312	144393											
NKAPL	222698	broad.mit.edu	37	chr6	28227462	28227462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgctatgcagaagaaCggcagtcagcggaagactac	12	10	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:28227462C>T	uc003nkt.2	+	1	365	c.313C>T	c.(313-315)CGG>TGG	p.R105W	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	105										upper_aerodigestive_tract(1)|ovary(1)	2						TGCAGAAGAACGGCAGTCAGC	0.582													T	28227462	C	T	28227462	3	4	280	1	0	0	0	0	1	0	0	0	10440	527	19	1	315	1	NKAPL	6	28227462	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	806935	28227462	142887605	313	144394											
OR2H1	26716	broad.mit.edu	37	chr6	29430469	29430469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttactagggaaggaaagagActccagggaaagctggagag	16	5	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:29430469A>G	uc003nmi.2	+	3	1366	c.923A>G	c.(922-924)GAC>GGC	p.D308G	OR2H1_uc003nmj.1_Missense_Mutation_p.D308G|OR2H1_uc010jri.1_Missense_Mutation_p.D230G	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGGAAAGAGACTCCAGGGAA	0.433													G	29430469	A	G	29430469	3	3	280	1	0	0	0	0	1	0	0	0	11001	275	10	3	925	3	OR2H1	6	29430469	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1203007	29430469	141684598	314	144395											
LY6G5C	80741	broad.mit.edu	37	chr6	31644790	31644790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaatccaggaagcagtAttgagagaatatccagaagc	11	7	0	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:31644790A>G	uc003nvu.1	-	3	388	c.388T>C	c.(388-390)TAC>CAC	p.Y130H	LY6G5C_uc003nvw.1_RNA|LY6G5C_uc010jtb.1_RNA	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex G5C	133	UPAR/Ly6.					extracellular region					0						AGGAAGCAGTATTGAGAGAAT	0.458													G	31644790	A	G	31644790	3	3	280	1	0	0	0	0	1	0	0	0	9093	449	16	3	59	3	LY6G5C	6	31644790	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2214321	31644790	139470277	315	144396											
VARS	7407	broad.mit.edu	37	chr6	31749699	31749699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcctccgcctcattgcGtccactcacccagtaccgcc	8	21	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:31749699G>A	uc003nxe.2	-	19	2695	c.2272C>T	c.(2272-2274)CGC>TGC	p.R758C	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	758					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GCCTCATTGCGTCCACTCACC	0.637													A	31749699	G	A	31749699	3	1	280	1	0	0	0	0	1	0	0	0	17120	1145	40	1	1570	1	VARS	6	31749699	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	104909	31749699	139365368	316	144397											
TNXB	7148	broad.mit.edu	37	chr6	32046817	32046817	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcactcacctgtcacGcccacggcggacaccgggcc	10	21	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:32046817G>A	uc003nzl.2	-	11	4570	c.4368C>T	c.(4366-4368)GGC>GGT	p.G1456G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1543					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CACCTGTCACGCCCACGGCGG	0.662													A	32046817	G	A	32046817	2	1	280	1	0	0	0	0	0	0	0	1	16343	1074	38	1		1	TNXB	6	32046817	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	297118	32046817	139068250	317	144398											
GPSM3	63940	broad.mit.edu	37	chr6	32159673	32159673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagcagggaggccgagCggggtcccagggctggggag	24	8	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:32159673C>T	uc003oay.3	-	3	551	c.158G>A	c.(157-159)CGC>CAC	p.R53H	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Intron|GPSM3_uc003oaz.2_Missense_Mutation_p.R53H	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	53					signal transduction	cytoplasm	GTPase activator activity|protein binding				0						GGAGGCCGAGCGGGGTCCCAG	0.662													T	32159673	C	T	32159673	3	4	280	1	0	0	0	0	1	0	0	0	6736	768	27	1	332	1	GPSM3	6	32159673	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	112856	32159673	138955394	318	144399											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410459	32410459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgctccaactatactcCgatcaccaatggtacctccc	5	16	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:32410459C>T	uc003obh.2	+	2	398	c.317C>T	c.(316-318)CCG>CTG	p.P106L	HLA-DRA_uc003obi.2_Missense_Mutation_p.P106L	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	106	Extracellular (Potential).|Alpha-1.				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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						AACTATACTCCGATCACCAAT	0.463									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of				T	32410459	C	T	32410459	3	4	280	1	0	0	0	0	1	0	0	0	7207	652	23	1	323	1	HLA-DRA	6	32410459	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	250786	32410459	138704608	319	144400											
DAXX	1616	broad.mit.edu	37	chr6	33289197	33289197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatagagcttggctggccGgctccgggcccgagacagga	16	12	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:33289197G>A	uc003oec.2	-	3	559	c.355C>T	c.(355-357)CGG>TGG	p.R119W	DAXX_uc011drd.1_Missense_Mutation_p.R44W|DAXX_uc011dre.1_Missense_Mutation_p.R131W|DAXX_uc003oed.2_Missense_Mutation_p.R119W|DAXX_uc010juw.2_Missense_Mutation_p.R44W	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	119	Necessary for interaction with USP7.				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			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TTGGCTGGCCGGCTCCGGGCC	0.582			Mis|F|N		Pancreatic neuroendocrine tumors								A	33289197	G	A	33289197	3	1	280	1	0	0	0	0	1	0	0	0	4243	1115	39	1	1891	1	DAXX	6	33289197	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	878738	33289197	137825870	320	144401											
GRM4	2914	broad.mit.edu	37	chr6	34004301	34004301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccttcactgtcttcttcCgctcacccggttggcagggc	10	16	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:34004301C>T	uc003oir.3	-	8	1756	c.1586G>A	c.(1585-1587)CGG>CAG	p.R529Q	GRM4_uc011dsn.1_Missense_Mutation_p.R482Q|GRM4_uc010jvh.2_Missense_Mutation_p.R529Q|GRM4_uc010jvi.2_Missense_Mutation_p.R221Q|GRM4_uc003oio.2_Missense_Mutation_p.R221Q|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R389Q|GRM4_uc003oiq.2_Missense_Mutation_p.R396Q|GRM4_uc011dsm.1_Missense_Mutation_p.R360Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	529	Extracellular (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TGTCTTCTTCCGCTCACCCGG	0.622													T	34004301	C	T	34004301	3	4	280	1	0	0	0	0	1	0	0	0	6799	652	23	1	1164	1	GRM4	6	34004301	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	715104	34004301	137110766	321	144402											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826293	34826293	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataccttgaattttgtagcCcccttccccctgtccatttg	5	15	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:34826293C>A	uc003oju.3	+	14	2394	c.2160C>A	c.(2158-2160)GCC>GCA	p.A720A	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	720										ovary(3)	3						ATTTTGTAGCCCCCTTCCCCC	0.547													A	34826293	C	A	34826293	2	1	280	1	0	0	0	0	0	0	0	1	16965	610	22	5		5	UHRF1BP1	6	34826293	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	821992	34826293	136288774	322	144403											
ANKS1A	23294	broad.mit.edu	37	chr6	35048916	35048916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcggcaccctcccgagCggagcgcttcaggatccagg	13	17	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:35048916C>T	uc003ojx.3	+	17	2832	c.2690C>T	c.(2689-2691)GCG>GTG	p.A897V	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.A437V|ANKS1A_uc010jvp.1_Missense_Mutation_p.A271V	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	897						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						CCCTCCCGAGCGGAGCGCTTC	0.667													T	35048916	C	T	35048916	3	4	280	1	0	0	0	0	1	0	0	0	688	768	27	1	2756	1	ANKS1A	6	35048916	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	222623	35048916	136066151	323	144404											
TEAD3	7005	broad.mit.edu	37	chr6	35443724	35443724	+	Frame_Shift_Del	DEL	G	G	-													tgacaaggaagaaggcattaGggggccccttctcatagagc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:35443723_35443723AG>A	uc003oku.4	-	9	1109	c.873_873CT>T	c.(871-873)cctfs	p.P291fs	TEAD3_uc003okt.3_Frame_Shift_Del_p.P180fs|TEAD3_uc010jvx.3_Frame_Shift_Del_p.P231fs	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	291	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGAAGGCATTAGGGGGCCCCT	0.572													-	35443724	G	-	35443724	7	5	280	1	0	1	0	1	0	0	0	0	15737	1000	35	0	451	0	TEAD3	6	35443724	Frame_Shift_Del	DEL	G	TCGA-HU-A4H4-01A-21D-A25D-08	394808	35443724	135671343	324	144405											
LHFPL5	222662	broad.mit.edu	37	chr6	35782436	35782436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggccactgcaccatcCgctgggccttcatgctggcc	12	17	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:35782436C>T	uc003olg.1	+	2	903	c.526C>T	c.(526-528)CGC>TGC	p.R176C		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	176			R -> L (in DFNB67).			integral to membrane				skin(1)	1						CTGCACCATCCGCTGGGCCTT	0.627													T	35782436	C	T	35782436	3	4	280	1	0	0	0	0	1	0	0	0	8768	652	23	1	532	1	LHFPL5	6	35782436	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	338712	35782436	135332631	325	144406											
DNAH8	1769	broad.mit.edu	37	chr6	38998037	38998037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaggaccccaagctgTatgtgtgtcctatttacaag	8	12	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:38998037T>C	uc003ooe.1	+	91	13942	c.13342T>C	c.(13342-13344)TAT>CAT	p.Y4448H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CCCCAAGCTGTATGTGTGTCC	0.502													C	38998037	T	C	38998037	3	2	280	1	0	0	0	0	1	0	0	0	4607	1638	57	3	13696	3	DNAH8	6	38998037	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3215601	38998037	132117030	326	144407											
PEX6	5190	broad.mit.edu	37	chr6	42937707	42937708	+	Frame_Shift_Ins	INS	-	-	A													caactgttttcttcactttaINSaaaaacatttcccgccacct							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:42937706_42937707T>TA	uc003otf.3	-	3	1242_1243	c.1149_1150A>TA	c.(1147-1152)tttaaafs	p.F383fs	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	383					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)			TTCTTCACTTTAAAAAACATTT	0.52													A	42937708	-	A	42937707	7	5	280	1	0	1	1	0	0	0	0	0	11750	359	13	0	1849	0	PEX6	6	42937707	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	3939670	42937707	128177360	327	144408											
KLHDC3	116138	broad.mit.edu	37	chr6	42986861	42986861	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggcctgggagatgaaTttgaccttatagatcattct	11	6	2	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:42986861T>G	uc003otl.2	+	9	1130	c.961T>G	c.(961-963)TTT>GTT	p.F321V	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.F297V|KLHDC3_uc003otn.2_Missense_Mutation_p.F205V|KLHDC3_uc003oto.2_Missense_Mutation_p.F262V	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	321					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGAGATGAATTTGACCTTAT	0.433													G	42986861	T	G	42986861	3	3	280	1	0	0	0	0	1	0	0	0	8357	1493	52	5	991	5	KLHDC3	6	42986861	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	49154	42986861	128128206	328	144409											
CUL7	9820	broad.mit.edu	37	chr6	43020479	43020479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggataggcatgtaagccGggccccaggggcaccctgaa	14	12	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:43020479G>A	uc003otq.2	-	2	351	c.48C>T	c.(46-48)CCC>CCT	p.P16P	CUL7_uc011dvb.1_Silent_p.P68P|CUL7_uc010jyh.2_5'UTR|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	16					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			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)			CATGTAAGCCGGGCCCCAGGG	0.597													A	43020479	G	A	43020479	2	1	280	1	0	0	0	0	0	0	0	1	4060	1103	39	1		1	CUL7	6	43020479	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	33618	43020479	128094588	329	144410											
PTK7	5754	broad.mit.edu	37	chr6	43098289	43098289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggcaccccaggacgtGgtagtagcgaggtatgagga	17	8	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:43098289G>A	uc003oub.1	+	5	900	c.702G>A	c.(700-702)GTG>GTA	p.V234V	PTK7_uc003ouc.1_Silent_p.V234V|PTK7_uc003oud.1_Silent_p.V234V|PTK7_uc003oue.1_Silent_p.V234V|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.V242V|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Silent_p.V234V	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	234	Ig-like C2-type 3.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V234M(1)		ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCCAGGACGTGGTAGTAGCGA	0.602													A	43098289	G	A	43098289	2	1	280	1	0	0	0	0	0	0	0	1	12765	1335	47	4		4	PTK7	6	43098289	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	77810	43098289	128016778	330	144411											
MEP1A	4224	broad.mit.edu	37	chr6	46777201	46777201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgcctttgagatgttcCgtctcaagtcctgtgtggat	11	8	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:46777201C>T	uc010jzh.1	+	6	349	c.307C>T	c.(307-309)CGT>TGT	p.R103C	MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.R131C|MEP1A_uc011dwi.1_Missense_Mutation_p.R3C	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	103	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			TGAGATGTTCCGTCTCAAGTC	0.378													T	46777201	C	T	46777201	3	4	280	1	0	0	0	0	1	0	0	0	9475	652	23	1	329	1	MEP1A	6	46777201	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3678912	46777201	124337866	331	144412											
GPR111	222611	broad.mit.edu	37	chr6	47649925	47649925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaaggcactccttatcCtctatggaatcatgattgtt	7	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:47649925C>A	uc010jzj.1	+	6	1631	c.1630C>A	c.(1630-1632)CTC>ATC	p.L544I	GPR111_uc010jzk.1_Missense_Mutation_p.L476I|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	544	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						ACTCCTTATCCTCTATGGAAT	0.453													A	47649925	C	A	47649925	3	1	280	1	0	0	0	0	1	0	0	0	6628	681	24	5	1444	5	GPR111	6	47649925	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	872724	47649925	123465142	332	144413											
PAQR8	85315	broad.mit.edu	37	chr6	52268177	52268177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacatccgcaccggctacCgccccacggggcacgagtgg	12	17	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:52268177C>T	uc003pao.3	+	2	340	c.166C>T	c.(166-168)CGC>TGC	p.R56C		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	56	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					CACCGGCTACCGCCCCACGGG	0.602													T	52268177	C	T	52268177	3	4	280	1	0	0	0	0	1	0	0	0	11441	652	23	1	168	1	PAQR8	6	52268177	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4618252	52268177	118846890	333	144414											
EFHC1	114327	broad.mit.edu	37	chr6	52343854	52343854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcccccatcccagaagAcaaagaccgcagatttgtct	8	13	1	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:52343854A>G	uc003pap.3	+	8	1513	c.1298A>G	c.(1297-1299)GAC>GGC	p.D433G	EFHC1_uc011dwv.1_Missense_Mutation_p.D342G|EFHC1_uc011dww.1_Missense_Mutation_p.D414G	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	433	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					ATCCCAGAAGACAAAGACCGC	0.393													G	52343854	A	G	52343854	3	3	280	1	0	0	0	0	1	0	0	0	4946	275	10	3	1338	3	EFHC1	6	52343854	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	75677	52343854	118771213	334	144415											
FBXO9	26268	broad.mit.edu	37	chr6	52957292	52957292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgtattaaacttgttcCgtacacgtcctggagagaga	10	8	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:52957292C>T	uc003pbo.2	+	8	800	c.749C>T	c.(748-750)CCG>CTG	p.P250L	FBXO9_uc003pbk.2_Missense_Mutation_p.P206L|FBXO9_uc003pbl.2_Missense_Mutation_p.P240L|FBXO9_uc003pbm.2_Missense_Mutation_p.P130L|FBXO9_uc003pbn.2_Missense_Mutation_p.P130L	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	F-box only protein 9 isoform 1	250						ubiquitin ligase complex	ubiquitin-protein ligase activity			pancreas(1)	1	Lung NSC(77;0.103)					AAACTTGTTCCGTACACGTCC	0.418													T	52957292	C	T	52957292	3	4	280	1	0	0	0	0	1	0	0	0	5762	652	23	1	782	1	FBXO9	6	52957292	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	613438	52957292	118157775	335	144416											
PHF3	23469	broad.mit.edu	37	chr6	64404538	64404538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaatggcagctagctcCtcttcgtaagatgggacaac	9	9	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:64404538C>T	uc003pep.1	+	5	2590	c.2564C>T	c.(2563-2565)CCT>CTT	p.P855L	PHF3_uc010kaf.1_Missense_Mutation_p.P855L|PHF3_uc003pem.2_Missense_Mutation_p.P808L|PHF3_uc010kag.1_Missense_Mutation_p.P767L|PHF3_uc010kah.1_Missense_Mutation_p.P669L|PHF3_uc003pen.2_Missense_Mutation_p.P767L|PHF3_uc011dxs.1_Missense_Mutation_p.P124L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	855					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			CAGCTAGCTCCTCTTCGTAAG	0.378													T	64404538	C	T	64404538	3	4	280	1	0	0	0	0	1	0	0	0	11836	681	24	4	2582	4	PHF3	6	64404538	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	11447246	64404538	106710529	336	144417											
COL9A1	1297	broad.mit.edu	37	chr6	70942386	70942387	+	Frame_Shift_Ins	INS	-	-	G													cattctctccaggagggccgINSgggggaccaggagggccagg							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:70942385_70942386C>CG	uc003pfg.4	-	35	2562_2563	c.2403_2404G>CG	c.(2401-2406)cccggcfs	p.P801fs	COL9A1_uc003pfe.4_Frame_Shift_Ins_p.P350fs|COL9A1_uc003pff.4_Frame_Shift_Ins_p.P558fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	801	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGAGGGCCGGGGGGACCAG	0.584													G	70942387	-	G	70942386	7	5	280	1	0	1	1	0	0	0	0	0	3707	1103	39	0	374	0	COL9A1	6	70942386	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	6537848	70942386	100172681	337	144418											
DOPEY1	23033	broad.mit.edu	37	chr6	83848666	83848666	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatgctcagccaatcacAtgtcaaggcatgttcctctg	8	12	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:83848666A>G	uc003pjs.1	+	21	5165	c.4905A>G	c.(4903-4905)ACA>ACG	p.T1635T	DOPEY1_uc011dyy.1_Silent_p.T1626T|DOPEY1_uc010kbl.1_Silent_p.T1626T|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1635					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		AGCCAATCACATGTCAAGGCA	0.428													G	83848666	A	G	83848666	2	3	280	1	0	0	0	0	0	0	0	1	4707	204	8	3		3	DOPEY1	6	83848666	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	12906280	83848666	87266401	338	144419											
DOPEY1	23033	broad.mit.edu	37	chr6	83848693	83848693	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcatgttcctctgtgcagtGatacgagctttgcatcagca	11	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:83848693G>A	uc003pjs.1	+	21	5192	c.4932G>A	c.(4930-4932)GTG>GTA	p.V1644V	DOPEY1_uc011dyy.1_Silent_p.V1635V|DOPEY1_uc010kbl.1_Silent_p.V1635V|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1644					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		TCTGTGCAGTGATACGAGCTT	0.448													A	83848693	G	A	83848693	2	1	280	1	0	0	0	0	0	0	0	1	4707	1277	45	4		4	DOPEY1	6	83848693	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	27	83848693	87266374	339	144420											
C6orf165	154313	broad.mit.edu	37	chr6	88125515	88125515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattggaaagcctctaccGgaagattatcagctatgtgt	10	7	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:88125515G>A	uc003plv.2	+	5	487	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.R132Q	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	132										central_nervous_system(1)	1		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)		AGCCTCTACCGGAAGATTATC	0.438													A	88125515	G	A	88125515	3	1	280	1	0	0	0	0	1	0	0	0	2341	1116	39	1	409	1	C6orf165	6	88125515	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4276822	88125515	82989552	340	144421											
SIM1	6492	broad.mit.edu	37	chr6	100838312	100838312	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcatcctcagatgggaAgttacatcaaagtgtgagcc	12	8	2	2	rs139754745	byFrequency	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:100838312A>C	uc003pqj.3	-	11	2433	c.2226T>G	c.(2224-2226)ACT>ACG	p.T742T	SIM1_uc010kcu.2_Silent_p.T742T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	742	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		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)		TCAGATGGGAAGTTACATCAA	0.413													C	100838312	A	C	100838312	2	2	280	1	0	0	0	0	0	0	0	1	14323	59	3	5		5	SIM1	6	100838312	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	12712797	100838312	70276755	341	144422											
C6orf170	221322	broad.mit.edu	37	chr6	121452898	121452898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttgtcaagatcattgTctaatcagaaagataacata	6	6	4	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:121452898T>A	uc003pyo.1	-	25	2842	c.2774A>T	c.(2773-2775)GAC>GTC	p.D925V	C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_Missense_Mutation_p.D24V|C6orf170_uc003pyp.1_Missense_Mutation_p.D485V	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	925					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AAGATCATTGTCTAATCAGAA	0.274													A	121452898	T	A	121452898	3	1	280	1	0	0	0	0	1	0	0	0	2344	1681	58	5	1031	5	C6orf170	6	121452898	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	20614586	121452898	49662169	342	144423											
SERINC1	57515	broad.mit.edu	37	chr6	122768310	122768310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagaattagtcctataatTccttgagcatgccaccactg	7	10	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:122768310T>C	uc003pyy.1	-	8	1021	c.951A>G	c.(949-951)GGA>GGG	p.G317G	SERINC1_uc003pyx.1_5'Flank	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	317	Helical; (Potential).				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			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		GTCCTATAATTCCTTGAGCAT	0.358													C	122768310	T	C	122768310	2	2	280	1	0	0	0	0	0	0	0	1	14079	1770	62	3		3	SERINC1	6	122768310	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1315412	122768310	48346757	343	144424											
NCOA7	135112	broad.mit.edu	37	chr6	126199499	126199499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaataaacttttcacacatActattgttccaggccaggta	6	9	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:126199499A>G	uc010kes.2	+	7	891	c.442A>G	c.(442-444)ACT>GCT	p.T148A	NCOA7_uc003qae.3_Missense_Mutation_p.T148A|NCOA7_uc003qah.2_Missense_Mutation_p.T148A|NCOA7_uc003qai.2_Missense_Mutation_p.T148A|NCOA7_uc010ket.2_Missense_Mutation_p.T44A|NCOA7_uc003qaf.2_Missense_Mutation_p.T148A|NCOA7_uc003qag.2_Missense_Mutation_p.T148A	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	148	LysM.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTCACACATACTATTGTTCC	0.358													G	126199499	A	G	126199499	3	3	280	1	0	0	0	0	1	0	0	0	10234	391	14	3	456	3	NCOA7	6	126199499	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3431189	126199499	44915568	344	144425											
HBS1L	10767	broad.mit.edu	37	chr6	135360709	135360709	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaacaagtaaaggcatAccttttgctatctttcctgt	6	8	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:135360709A>G	uc003qez.2	-	4	637	c.430_splice	c.e4+1	p.G144_splice	HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Splice_Site_p.G102_splice|HBS1L_uc003qfa.2_Splice_Site_p.G144_splice	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein						signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTAAAGGCATACCTTTTGCTA	0.373													G	135360709	A	G	135360709	5	3	280	1	0	0	0	0	0	0	1	0	6987	405	14	3	3155	3	HBS1L	6	135360709	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	9161210	135360709	35754358	345	144426											
HIVEP2	3097	broad.mit.edu	37	chr6	143091156	143091156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctcatgtccgatgccgTctcatcgatatctaattcat	6	12	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:143091156T>C	uc003qjd.2	-	5	5463	c.4720A>G	c.(4720-4722)ACG>GCG	p.T1574A		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1574	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCCGATGCCGTCTCATCGATA	0.537													C	143091156	T	C	143091156	3	2	280	1	0	0	0	0	1	0	0	0	7187	1667	58	3	2644	3	HIVEP2	6	143091156	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	7730447	143091156	28023911	346	144427											
UTRN	7402	broad.mit.edu	37	chr6	145115062	145115062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatccagatcccccggcagCtaggtgaagtagcagctttt	10	13	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:145115062C>A	uc003qkt.2	+	62	9105	c.9013C>A	c.(9013-9015)CTA>ATA	p.L3005I		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3005	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			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCCGGCAGCTAGGTGAAGT	0.502													A	145115062	C	A	145115062	3	1	280	1	0	0	0	0	1	0	0	0	17100	796	28	5	9259	5	UTRN	6	145115062	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2023906	145115062	26000005	347	144428											
ZC3H12D	340152	broad.mit.edu	37	chr6	149777879	149777879	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttctcgctctgcaggtcCcggtagttgtcgttggagac	15	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:149777879C>A	uc003qmn.1	-	3	673	c.603G>T	c.(601-603)CGG>CGT	p.R201R	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.R201R|ZC3H12D_uc010kid.2_Silent_p.R201R	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	201						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCTGCAGGTCCCGGTAGTTGT	0.617													A	149777879	C	A	149777879	2	1	280	1	0	0	0	0	0	0	0	1	17561	610	22	5		5	ZC3H12D	6	149777879	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4662817	149777879	21337188	348	144429											
SYNE1	23345	broad.mit.edu	37	chr6	152686081	152686081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttctggagaagtattcTgaaggacagattctcccctg	10	10	3	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:152686081T>G	uc010kiw.2	-	63	10648	c.10046A>C	c.(10045-10047)CAG>CCG	p.Q3349P	SYNE1_uc003qot.3_Missense_Mutation_p.Q3356P|SYNE1_uc003qou.3_Missense_Mutation_p.Q3349P|SYNE1_uc010kja.1_Missense_Mutation_p.Q54P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3349	Spectrin 7.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAAGTATTCTGAAGGACAGA	0.433										HNSCC(10;0.0054)			G	152686081	T	G	152686081	3	3	280	1	0	0	0	0	1	0	0	0	15442	1580	55	5	16756	5	SYNE1	6	152686081	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2908202	152686081	18428986	349	144430											
UNC93A	54346	broad.mit.edu	37	chr6	167719508	167719508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggaaaggtctcgcagTacacgggcagggctgtgctg	16	8	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:167719508T>C	uc003qvq.2	+	6	1121	c.946T>C	c.(946-948)TAC>CAC	p.Y316H	UNC93A_uc003qvr.2_Missense_Mutation_p.Y274H	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	316						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGTCTCGCAGTACACGGGCAG	0.577													C	167719508	T	C	167719508	3	2	280	1	0	0	0	0	1	0	0	0	16993	1638	57	3	968	3	UNC93A	6	167719508	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	15033427	167719508	3395559	350	144431											
MLLT4	4301	broad.mit.edu	37	chr6	168325765	168325765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggccttagcattgttgcAgcaaaggtaggccaattagt	12	7	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr6:168325765A>G	uc003qwd.2	+	22	3211	c.3069A>G	c.(3067-3069)GCA>GCG	p.A1023A	MLLT4_uc003qwb.1_Silent_p.A1008A|MLLT4_uc003qwc.1_Silent_p.A1024A|MLLT4_uc003qwg.1_Silent_p.A333A	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1024	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		GCATTGTTGCAGCAAAGGTAG	0.458			T	MLL	AL								G	168325765	A	G	168325765	2	3	280	1	0	0	0	0	0	0	0	1	9629	175	7	3		3	MLLT4	6	168325765	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	606257	168325765	2789302	351	144432											
GET4	51608	broad.mit.edu	37	chr7	935043	935043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccccagcgacggcagccCcatcgagctggactgaactg	13	15	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:935043C>A	uc003sjl.1	+	9	1060	c.968C>A	c.(967-969)CCC>CAC	p.P323H	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	323					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						GACGGCAGCCCCATCGAGCTG	0.642													A	935043	C	A	935043	3	1	280	1	0	0	0	0	1	0	0	0	6336	623	22	5	1002	5	GET4	7	935043	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08		935043	158203620	352	144433											
EIF3B	8662	broad.mit.edu	37	chr7	2412376	2412376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcacggagaggctccgCggatatctgtgtctttctac	12	11	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:2412376C>T	uc003slx.2	+	12	1839	c.1756C>T	c.(1756-1758)CGG>TGG	p.R586W	EIF3B_uc003sly.2_Missense_Mutation_p.R586W|EIF3B_uc003sma.2_Missense_Mutation_p.R314W	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	586	WD 4.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGAGGCTCCGCGGATATCTGT	0.463													T	2412376	C	T	2412376	3	4	280	1	0	0	0	0	1	0	0	0	5013	759	27	1	1802	1	EIF3B	7	2412376	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1477333	2412376	156726287	353	144434											
SDK1	221935	broad.mit.edu	37	chr7	4213929	4213929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctggagtatgaagccGggtcaggcactgaggccaag	18	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:4213929G>A	uc003smx.2	+	33	5015	c.4876G>A	c.(4876-4878)GGG>AGG	p.G1626R	SDK1_uc010kso.2_Missense_Mutation_p.G902R|SDK1_uc003smy.2_Missense_Mutation_p.G113R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1626	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		GTATGAAGCCGGGTCAGGCAC	0.547													A	4213929	G	A	4213929	3	1	280	1	0	0	0	0	1	0	0	0	13968	1116	39	1	5006	1	SDK1	7	4213929	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1801553	4213929	154924734	354	144435											
RBAK	57786	broad.mit.edu	37	chr7	5105149	5105149	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaacgagtgtgggaaaaaaTtccaccacagatcagccttc	9	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:5105149T>A	uc010kss.1	+	6	2386	c.2062T>A	c.(2062-2064)TTC>ATC	p.F688I	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.F688I	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	688	Interaction with AR.|C2H2-type 16.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGGGAAAAAATTCCACCACAG	0.383													A	5105149	T	A	5105149	3	1	280	1	0	0	0	0	1	0	0	0	13100	1493	52	5	2076	5	RBAK	7	5105149	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	891220	5105149	154033514	355	144436											
TNRC18	84629	broad.mit.edu	37	chr7	5355614	5355614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatagtcagggggcaggaGgcggatatgtgagaggggga	20	4	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:5355614G>T	uc003soi.3	-	25	7184	c.6835C>A	c.(6835-6837)CTC>ATC	p.L2279I		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2279							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGGGCAGGAGGCGGATATGT	0.612													T	5355614	G	T	5355614	3	4	280	1	0	0	0	0	1	0	0	0	16336	1000	35	5	2095	5	TNRC18	7	5355614	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	250465	5355614	153783049	356	144437											
ACTB	60	broad.mit.edu	37	chr7	5567657	5567657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcttcattgtgctgggtGccagggcagtgatctccttc	12	10	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:5567657G>A	uc003sos.3	-	4	998	c.962C>T	c.(961-963)GCA>GTA	p.A321V	ACTB_uc003sor.3_Missense_Mutation_p.A199V|ACTB_uc003sot.3_Missense_Mutation_p.A321V|ACTB_uc003soq.3_Missense_Mutation_p.A199V|ACTB_uc010ksy.2_Missense_Mutation_p.A199V	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	321					'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				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTGCTGGGTGCCAGGGCAGT	0.597													A	5567657	G	A	5567657	3	1	280	1	0	0	0	0	1	0	0	0	193	1319	46	2	173	2	ACTB	7	5567657	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	212043	5567657	153571006	357	144438											
C7orf26	79034	broad.mit.edu	37	chr7	6647676	6647676	+	Frame_Shift_Del	DEL	C	C	-													tctacccccacatccacacgCccccgctgggctacggggct							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:6647675_6647675GC>G	uc003sqo.1	+	5	1233	c.1233_1233GC>G	c.(1231-1233)acgfs	p.T411fs	C7orf26_uc003sqp.1_Frame_Shift_Del_p.T314fs	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	411										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ACATCCACACGCCCCCGCTGG	0.716													-	6647676	C	-	6647676	7	5	280	1	0	1	0	1	0	0	0	0	2381	739	26	0	1256	0	C7orf26	7	6647676	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	1080019	6647676	152490987	358	144439											
AHR	196	broad.mit.edu	37	chr7	17373617	17373617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaatacttccacctcagTtggctttgtttgcgatagct	8	10	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:17373617T>C	uc011jxz.1	+	7	1400	c.787T>C	c.(787-789)TTG>CTG	p.L263L	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	263					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			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TCCACCTCAGTTGGCTTTGTT	0.378													C	17373617	T	C	17373617	2	2	280	1	0	0	0	0	0	0	0	1	416	1722	60	3		3	AHR	7	17373617	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	10725941	17373617	141765046	359	144440											
CREB5	9586	broad.mit.edu	37	chr7	28858731	28858731	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctttttttttctccctAggtccagagagtagccctcc	7	12	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:28858731A>G	uc003szq.2	+	11	1754	c.1364_splice	c.e11-2	p.S455_splice	CREB5_uc003szo.2_Splice_Site_p.S422_splice|CREB5_uc003szr.2_Splice_Site_p.S448_splice|CREB5_uc003szs.2_Splice_Site_p.S316_splice	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5						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			skin(2)	2						TTTTCTCCCTAGGTCCAGAGA	0.458													G	28858731	A	G	28858731	5	3	280	1	0	0	0	0	0	0	1	0	3860	434	15	3	1455	3	CREB5	7	28858731	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	11485114	28858731	130279932	360	144441											
BMPER	168667	broad.mit.edu	37	chr7	34094781	34094781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggcccccaggactctActgtggtttgcaagaggaag	13	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:34094781A>G	uc011kap.1	+	9	907	c.793A>G	c.(793-795)ACT>GCT	p.T265A		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	265	VWFC 4.				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				ovary(2)|central_nervous_system(1)	3						CCAGGACTCTACTGTGGTTTG	0.498													G	34094781	A	G	34094781	3	3	280	1	0	0	0	0	1	0	0	0	1468	391	14	3	827	3	BMPER	7	34094781	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5236050	34094781	125043882	361	144442											
POU6F2	11281	broad.mit.edu	37	chr7	39247128	39247128	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaggactggttctcacActgccaacagcgaatctcac	8	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:39247128A>G	uc003thb.1	+	4	462	c.420A>G	c.(418-420)ACA>ACG	p.T140T	POU6F2_uc010kxo.2_Silent_p.T132T	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	140					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			central_nervous_system(1)	1						TGGTTCTCACACTGCCAACAG	0.582													G	39247128	A	G	39247128	2	3	280	1	0	0	0	0	0	0	0	1	12285	146	6	3		3	POU6F2	7	39247128	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	5152347	39247128	119891535	362	144443											
POU6F2	11281	broad.mit.edu	37	chr7	39472723	39472723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccagggccatcgagccaAgcagcaagcggcactcaggg	13	13	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:39472723A>C	uc003thb.1	+	7	1116	c.1074A>C	c.(1072-1074)CAA>CAC	p.Q358H		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	358	Gln-rich.				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			central_nervous_system(1)	1						CATCGAGCCAAGCAGCAAGCG	0.587													C	39472723	A	C	39472723	3	2	280	1	0	0	0	0	1	0	0	0	12285	69	3	5	1100	5	POU6F2	7	39472723	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	225595	39472723	119665940	363	144444											
CDK13	8621	broad.mit.edu	37	chr7	39991418	39991418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacagcagcagcagctggcGccgctctcgcagtccctaca	10	17	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:39991418G>A	uc003thh.3	+	1	1460	c.1178G>A	c.(1177-1179)CGC>CAC	p.R393H	CDK13_uc003thi.3_Missense_Mutation_p.R393H	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	393					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			lung(2)|skin(2)|ovary(1)	5						AGCAGCTGGCGCCGCTCTCGC	0.672													A	39991418	G	A	39991418	3	1	280	1	0	0	0	0	1	0	0	0	3129	1087	38	1	1180	1	CDK13	7	39991418	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	518695	39991418	119147245	364	144445											
CDK13	8621	broad.mit.edu	37	chr7	40027229	40027229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcccgaagcagaagcccgTattcatctaggcattcaaga	8	11	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:40027229T>C	uc003thh.3	+	2	1525	c.1243T>C	c.(1243-1245)TAT>CAT	p.Y415H	CDK13_uc003thi.3_Missense_Mutation_p.Y415H|CDK13_uc011kbf.1_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	415					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			lung(2)|skin(2)|ovary(1)	5						CAGAAGCCCGTATTCATCTAG	0.403													C	40027229	T	C	40027229	3	2	280	1	0	0	0	0	1	0	0	0	3129	1638	57	3	1249	3	CDK13	7	40027229	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	35811	40027229	119111434	365	144446											
DBNL	28988	broad.mit.edu	37	chr7	44091531	44091531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggactgcccaaatttgtccTcatcaactgggtatgtggag	11	9	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:44091531T>C	uc003tjp.3	+	3	340	c.242T>C	c.(241-243)CTC>CCC	p.L81P	DBNL_uc003tjn.2_Intron|DBNL_uc003tjo.3_Missense_Mutation_p.L81P|DBNL_uc003tjr.3_Intron|DBNL_uc003tjq.3_Missense_Mutation_p.L81P|DBNL_uc011kbm.1_Missense_Mutation_p.L81P|DBNL_uc011kbn.1_Intron|DBNL_uc011kbo.1_Intron|DBNL_uc011kbp.1_Missense_Mutation_p.L81P|DBNL_uc011kbq.1_Intron|DBNL_uc011kbr.1_Missense_Mutation_p.L29P|DBNL_uc011kbs.1_5'Flank	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	81	ADF-H.				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			skin(1)	1						AAATTTGTCCTCATCAACTGG	0.507													C	44091531	T	C	44091531	3	2	280	1	0	0	0	0	1	0	0	0	4255	1551	54	3	252	3	DBNL	7	44091531	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4064302	44091531	115047132	366	144447											
ZPBP	11055	broad.mit.edu	37	chr7	50057839	50057839	+	Frame_Shift_Del	DEL	A	A	-													agcctcacataacataccttAaaaagtcttttgtaaggttc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:50057838_50057838TA>T	uc003tou.3	-	5	851	c.781_781TA>A	c.(781-783)aagfs	p.K261fs	ZPBP_uc010kyw.3_Frame_Shift_Del_p.K260fs	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	261					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)					TAACATACCTTAAAAAGTCTT	0.328													-	50057839	A	-	50057839	7	5	280	1	0	1	0	1	0	0	0	0	18216	359	13	0	287	0	ZPBP	7	50057839	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	5966308	50057839	109080824	367	144448											
GUSB	2990	broad.mit.edu	37	chr7	65441103	65441103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtcccagtcccattcgCcacgactttgttttctgcat	8	14	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:65441103C>A	uc003tun.2	-	5	887	c.811G>T	c.(811-813)GCG>TCG	p.A271S	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Missense_Mutation_p.A104S	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	271					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						GTCCCATTCGCCACGACTTTG	0.522													A	65441103	C	A	65441103	3	1	280	1	0	0	0	0	1	0	0	0	6902	739	26	5	1176	5	GUSB	7	65441103	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	15383264	65441103	93697560	368	144449											
PCLO	27445	broad.mit.edu	37	chr7	82389956	82389956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacataatacagagctaccTgaagagaatgtcctgcagga	9	9	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:82389956T>C	uc003uhx.2	-	24	15576	c.15287A>G	c.(15286-15288)CAG>CGG	p.Q5096R		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5019	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGAGCTACCTGAAGAGAATG	0.313													C	82389956	T	C	82389956	3	2	280	1	0	0	0	0	1	0	0	0	11583	1594	55	3	149	3	PCLO	7	82389956	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	16948853	82389956	76748707	369	144450											
PCLO	27445	broad.mit.edu	37	chr7	82578809	82578809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccgtatagccctcggtatActgaaaaggagccctggaac	10	11	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:82578809A>G	uc003uhx.2	-	6	11384	c.11095T>C	c.(11095-11097)TAT>CAT	p.Y3699H	PCLO_uc003uhv.2_Missense_Mutation_p.Y3699H|PCLO_uc010lec.2_Missense_Mutation_p.Y664H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCCTCGGTATACTGAAAAGGA	0.473													G	82578809	A	G	82578809	3	3	280	1	0	0	0	0	1	0	0	0	11583	391	14	3	4430	3	PCLO	7	82578809	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	188853	82578809	76559854	370	144451											
SAMD9	54809	broad.mit.edu	37	chr7	92732286	92732286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtttcaccttcatgtTcatcgcggtgtcttgtgagt	9	10	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:92732286T>C	uc003umf.2	-	3	3381	c.3125A>G	c.(3124-3126)GAA>GGA	p.E1042G	SAMD9_uc003umg.2_Missense_Mutation_p.E1042G	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1042						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	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)			ACCTTCATGTTCATCGCGGTG	0.368													C	92732286	T	C	92732286	3	2	280	1	0	0	0	0	1	0	0	0	13826	1783	62	3	1648	3	SAMD9	7	92732286	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	10153477	92732286	66406377	371	144452											
SAMD9L	219285	broad.mit.edu	37	chr7	92764562	92764562	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccatggggtttgtccttGactccaaaatggatggtgcc	11	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:92764562G>A	uc003umh.1	-	5	1939	c.723C>T	c.(721-723)GTC>GTT	p.V241V	SAMD9L_uc003umj.1_Silent_p.V241V|SAMD9L_uc003umi.1_Silent_p.V241V|SAMD9L_uc010lfb.1_Silent_p.V241V|SAMD9L_uc003umk.1_Silent_p.V241V|SAMD9L_uc010lfc.1_Silent_p.V241V|SAMD9L_uc010lfd.1_Silent_p.V241V|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	241										ovary(4)	4	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)			GTTTGTCCTTGACTCCAAAAT	0.403													A	92764562	G	A	92764562	2	1	280	1	0	0	0	0	0	0	0	1	13827	1277	45	4		4	SAMD9L	7	92764562	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	32276	92764562	66374101	372	144453											
CCDC132	55610	broad.mit.edu	37	chr7	92970845	92970845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttttgacatctggggataCgctgtatgggttggcagaaa	15	5	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:92970845C>T	uc003umo.2	+	23	2293	c.2165C>T	c.(2164-2166)ACG>ATG	p.T722M	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.T692M|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.T442M	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	722											0	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)			TCTGGGGATACGCTGTATGGG	0.438													T	92970845	C	T	92970845	3	4	280	1	0	0	0	0	1	0	0	0	2767	536	19	1	2297	1	CCDC132	7	92970845	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	206283	92970845	66167818	373	144454											
CALCR	799	broad.mit.edu	37	chr7	93072923	93072923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatacataccccagccCaagagataataccaccgcaa	5	13	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:93072923C>A	uc003umv.1	-	10	1158	c.897G>T	c.(895-897)TTG>TTT	p.L299F	CALCR_uc011kia.1_Missense_Mutation_p.L79F|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.L265F|CALCR_uc003umw.2_Missense_Mutation_p.L265F	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	281	Helical; Name=4; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TACCCCAGCCCAAGAGATAAT	0.438													A	93072923	C	A	93072923	3	1	280	1	0	0	0	0	1	0	0	0	2579	593	21	5	653	5	CALCR	7	93072923	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	102078	93072923	66065740	374	144455											
PPP1R9A	55607	broad.mit.edu	37	chr7	94791244	94791244	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggtgtgacacagaattTtgcagcaacagttctcagaa	12	7	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:94791244T>G	uc003unp.2	+	5	1997	c.1715T>G	c.(1714-1716)TTT>TGT	p.F572C	PPP1R9A_uc010lfj.2_Missense_Mutation_p.F572C|PPP1R9A_uc011kif.1_Missense_Mutation_p.F572C|PPP1R9A_uc003unq.2_Missense_Mutation_p.F572C|PPP1R9A_uc011kig.1_Missense_Mutation_p.F572C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	572	PDZ.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACACAGAATTTTGCAGCAACA	0.363										HNSCC(28;0.073)			G	94791244	T	G	94791244	3	3	280	1	0	0	0	0	1	0	0	0	12378	1841	64	5	1729	5	PPP1R9A	7	94791244	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1718321	94791244	64347419	375	144456											
MBLAC1	255374	broad.mit.edu	37	chr7	99725164	99725164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtgaccctggtcctacCccagacccggggcccggcct	11	20	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:99725164C>T	uc003utp.2	+	2	545	c.146C>T	c.(145-147)CCC>CTC	p.P49L		NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	49							hydrolase activity|metal ion binding			breast(1)	1						CTGGTCCTACCCCAGACCCGG	0.751													T	99725164	C	T	99725164	3	4	280	1	0	0	0	0	1	0	0	0	9351	623	22	4	148	4	MBLAC1	7	99725164	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4933920	99725164	59413499	376	144457											
GPC2	221914	broad.mit.edu	37	chr7	99771477	99771477	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagatagttgccccagtcAggctccagtcccctgctgct	9	17	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:99771477A>G	uc003utv.2	-	5	1041	c.873T>C	c.(871-873)CCT>CCC	p.P291P	GPC2_uc010lgr.2_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	291						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCCCAGTCAGGCTCCAGTC	0.453													G	99771477	A	G	99771477	2	3	280	1	0	0	0	0	0	0	0	1	6598	175	7	3		3	GPC2	7	99771477	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	46313	99771477	59367186	377	144458											
DLD	1738	broad.mit.edu	37	chr7	107545454	107545454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggagcagaagagtactgCagtaaaagctttaacaggtg	13	5	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:107545454C>A	uc003vet.2	+	6	499	c.389C>A	c.(388-390)GCA>GAA	p.A130E	DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.A130E|DLD_uc011kmh.1_Missense_Mutation_p.A107E|DLD_uc011kmi.1_Missense_Mutation_p.A31E	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	130					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	AAGAGTACTGCAGTAAAAGCT	0.328													A	107545454	C	A	107545454	3	1	280	1	0	0	0	0	1	0	0	0	4551	710	25	5	411	5	DLD	7	107545454	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7773977	107545454	51593209	378	144459											
NRCAM	4897	broad.mit.edu	37	chr7	107832191	107832191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacaacgctaagcacagCgctggcggagacgctgtcca	11	14	0	1	rs139663718	by1000genomes	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:107832191C>T	uc003vfb.2	-	18	2356	c.1885G>A	c.(1885-1887)GCT>ACT	p.A629T	NRCAM_uc003vfc.2_Missense_Mutation_p.A623T|NRCAM_uc011kmk.1_Missense_Mutation_p.A624T|NRCAM_uc003vfd.2_Missense_Mutation_p.A605T|NRCAM_uc003vfe.2_Missense_Mutation_p.A605T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	629	Ig-like 6.|Extracellular (Potential).				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			ovary(3)|breast(2)	5						CTAAGCACAGCGCTGGCGGAG	0.433													T	107832191	C	T	107832191	3	4	280	1	0	0	0	0	1	0	0	0	10644	768	27	1	2123	1	NRCAM	7	107832191	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	286737	107832191	51306472	379	144460											
TMEM209	84928	broad.mit.edu	37	chr7	129832581	129832581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacggtaggtgaagaacggTagcgagatctcaatccactg	13	8	1	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:129832581T>C	uc003vpn.2	-	6	779	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	TMEM209_uc010lmc.1_Missense_Mutation_p.Y219C	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	219	Ser-rich.					integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)					TGAAGAACGGTAGCGAGATCT	0.463													C	129832581	T	C	129832581	3	2	280	1	0	0	0	0	1	0	0	0	16131	1638	57	3	1069	3	TMEM209	7	129832581	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	22000390	129832581	29306082	380	144461											
EXOC4	60412	broad.mit.edu	37	chr7	133622681	133622681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctgaagttcttattgggAacctgggtgataaattaatc	10	5	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:133622681A>G	uc003vrk.2	+	14	2100	c.2065A>G	c.(2065-2067)AAC>GAC	p.N689D	EXOC4_uc011kpo.1_Missense_Mutation_p.N588D|EXOC4_uc003vrl.2_Missense_Mutation_p.N299D|EXOC4_uc011kpp.1_Missense_Mutation_p.N221D|EXOC4_uc011kpq.1_5'UTR	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	689					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				TCTTATTGGGAACCTGGGTGA	0.463													G	133622681	A	G	133622681	3	3	280	1	0	0	0	0	1	0	0	0	5306	246	9	3	2128	3	EXOC4	7	133622681	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3790100	133622681	25515982	381	144462											
UBN2	254048	broad.mit.edu	37	chr7	138968847	138968847	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcacccaagccctctctgTcagctaagccttcagtatca	5	17	5	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:138968847T>A	uc011kqr.1	+	15	3196	c.3196T>A	c.(3196-3198)TCA>ACA	p.S1066T		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1066	Ser-rich.									ovary(1)|skin(1)	2						GCCCTCTCTGTCAGCTAAGCC	0.517													A	138968847	T	A	138968847	3	1	280	1	0	0	0	0	1	0	0	0	16890	1667	58	5	3254	5	UBN2	7	138968847	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	5346166	138968847	20169816	382	144463											
ZNF398	57541	broad.mit.edu	37	chr7	148863337	148863337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaggaactttacaagAatatcatgaagggcaactac	9	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:148863337A>G	uc003wfl.2	+	3	783	c.508A>G	c.(508-510)AAT>GAT	p.N170D	ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.N175D	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	170	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACTTTACAAGAATATCATGAA	0.433													G	148863337	A	G	148863337	3	3	280	1	0	0	0	0	1	0	0	0	17882	246	9	3	518	3	ZNF398	7	148863337	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	9894490	148863337	10275326	383	144464											
ACCN3	9311	broad.mit.edu	37	chr7	150746007	150746007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccagaggaggcccggcGgccagcctcggacatccgcg	16	16	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:150746007G>A	uc003win.2	+	1	403	c.35G>A	c.(34-36)CGG>CAG	p.R12Q	ACCN3_uc003wio.2_Missense_Mutation_p.R12Q|ACCN3_uc003wip.2_Missense_Mutation_p.R12Q|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	12	Cytoplasmic (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGCCCGGCGGCCAGCCTCG	0.677													A	150746007	G	A	150746007	3	1	280	1	0	0	0	0	1	0	0	0	130	1116	39	1	37	1	ACCN3	7	150746007	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1882670	150746007	8392656	384	144465											
CHPF2	54480	broad.mit.edu	37	chr7	150935383	150935383	+	Frame_Shift_Del	DEL	C	C	-													cccccgggggctggccctgaCcccccctcccctcctggtgc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:150935382_150935382AC>A	uc003wjr.1	+	3	3447	c.1934_1934AC>A	c.(1933-1935)gacfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Del_p.D637fs|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	645	Gly/Pro-rich.					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						GCTGGCCCTGACCCCCCCTCC	0.652													-	150935383	C	-	150935383	7	5	280	1	0	1	0	1	0	0	0	0	3369	506	18	0	1949	0	CHPF2	7	150935383	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	189376	150935383	8203280	385	144466											
PTPRN2	5799	broad.mit.edu	37	chr7	157985105	157985105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggcctccaggaagggcaGgtggcgtcggagggcgttgg	21	9	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr7:157985105G>T	uc003wno.2	-	5	584	c.463C>A	c.(463-465)CTG>ATG	p.L155M	PTPRN2_uc003wnp.2_Missense_Mutation_p.L138M|PTPRN2_uc003wnq.2_Missense_Mutation_p.L155M|PTPRN2_uc003wnr.2_Missense_Mutation_p.L117M|PTPRN2_uc011kwa.1_Missense_Mutation_p.L178M	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	155	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	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)		AGGAAGGGCAGGTGGCGTCGG	0.652													T	157985105	G	T	157985105	3	4	280	1	0	0	0	0	1	0	0	0	12808	991	35	5	2660	5	PTPRN2	7	157985105	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	7049722	157985105	1153558	386	144467											
MYOM2	9172	broad.mit.edu	37	chr8	2033439	2033439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccggtgtgcacgcttccGagatcagcagaaactatgtc	10	13	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:2033439G>A	uc003wpx.3	+	14	1699	c.1561G>A	c.(1561-1563)GAG>AAG	p.E521K	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	521	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		GCACGCTTCCGAGATCAGCAG	0.592													A	2033439	G	A	2033439	3	1	280	1	0	0	0	0	1	0	0	0	10092	1059	37	1	1611	1	MYOM2	8	2033439	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08		2033439	144330583	387	144468											
SOX7	83595	broad.mit.edu	37	chr8	10583650	10583650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggccagggagcccaggggGtggctacagtggagagggct	21	8	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:10583650G>T	uc003wtf.2	-	2	844	c.765C>A	c.(763-765)CAC>CAA	p.H255Q	SOX7_uc011kwz.1_Missense_Mutation_p.H307Q	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	255					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)	1				COAD - Colon adenocarcinoma(149;0.0732)		AGCCCAGGGGGTGGCTACAGT	0.697													T	10583650	G	T	10583650	3	4	280	1	0	0	0	0	1	0	0	0	14956	1252	44	5	405	5	SOX7	8	10583650	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	8550211	10583650	135780372	388	144469											
PSD3	23362	broad.mit.edu	37	chr8	18662245	18662245	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttgcaacatctgatcTtttgaatctgtccagctgat	8	8	3	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:18662245T>G	uc003wza.2	-	5	1901	c.1798A>C	c.(1798-1800)AGA>CGA	p.R600R	PSD3_uc003wyy.2_Silent_p.R66R|PSD3_uc003wyz.2_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	600	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACATCTGATCTTTTGAATCTG	0.433													G	18662245	T	G	18662245	2	3	280	1	0	0	0	0	0	0	0	1	12648	1617	56	5		5	PSD3	8	18662245	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	8078595	18662245	127701777	389	144470											
GFRA2	2675	broad.mit.edu	37	chr8	21560366	21560366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtccccaagctggtactgTcactgaggtcatctggcaaa	11	11	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:21560366T>C	uc003wzu.1	-	7	1844	c.1169A>G	c.(1168-1170)GAC>GGC	p.D390G	GFRA2_uc003wzv.1_Missense_Mutation_p.D285G|GFRA2_uc003wzw.1_Missense_Mutation_p.D257G	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	390						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCTGGTACTGTCACTGAGGTC	0.632													C	21560366	T	C	21560366	3	2	280	1	0	0	0	0	1	0	0	0	6348	1667	58	3	237	3	GFRA2	8	21560366	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2898121	21560366	124803656	390	144471											
EPB49	2039	broad.mit.edu	37	chr8	21925174	21925174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcctggaacacgtggAgctgcctcgcagccgcgagg	13	15	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:21925174A>G	uc011kyt.1	+	4	459	c.230A>G	c.(229-231)GAG>GGG	p.E77G	EPB49_uc010ltl.2_Missense_Mutation_p.E77G|EPB49_uc011kys.1_Missense_Mutation_p.E52G|EPB49_uc010ltn.2_Missense_Mutation_p.E52G|EPB49_uc011kyu.1_Missense_Mutation_p.E77G|EPB49_uc011kyv.1_Missense_Mutation_p.E77G|EPB49_uc010ltq.2_Missense_Mutation_p.E77G	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	77					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GAACACGTGGAGCTGCCTCGC	0.662													G	21925174	A	G	21925174	3	3	280	1	0	0	0	0	1	0	0	0	5159	304	11	3	240	3	EPB49	8	21925174	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	364808	21925174	124438848	391	144472											
NUDT18	79873	broad.mit.edu	37	chr8	21965115	21965115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccacccctctgctccataGggtcgaggccacaggcagtg	12	15	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:21965115G>T	uc003xaq.1	-	6	787	c.668C>A	c.(667-669)CCT>CAT	p.P223H	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	223							hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CTGCTCCATAGGGTCGAGGCC	0.617													T	21965115	G	T	21965115	3	4	280	1	0	0	0	0	1	0	0	0	10735	1000	35	5	307	5	NUDT18	8	21965115	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	39941	21965115	124398907	392	144473											
DCTN6	10671	broad.mit.edu	37	chr8	30040606	30040606	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttagccccagacactacagCtggatttcttgatgaaaatc	7	10	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:30040606C>A	uc003xhy.2	+	7	577	c.490C>A	c.(490-492)CTG>ATG	p.L164M		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	164						centrosome	transferase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		GACACTACAGCTGGATTTCTT	0.353													A	30040606	C	A	30040606	3	1	280	1	0	0	0	0	1	0	0	0	4311	796	28	5	516	5	DCTN6	8	30040606	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8075491	30040606	116323416	393	144474											
TEX15	56154	broad.mit.edu	37	chr8	30695503	30695503	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccttttttggcgttAaatgatttcttttcagactg	6	7	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:30695503A>C	uc003xil.2	-	3	7148	c.7148T>G	c.(7147-7149)TTA>TGA	p.L2383*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2383										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTGGCGTTAAATGATTTCT	0.378													C	30695503	A	C	30695503	4	2	280	1	0	0	0	0	0	1	0	0	15776	372	13	5	1229	5	TEX15	8	30695503	Nonsense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	654897	30695503	115668519	394	144475											
MYST3	7994	broad.mit.edu	37	chr8	41801380	41801380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgcttgtcattttggTgataaaggcactccaatatt	8	7	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:41801380T>G	uc010lxb.2	-	14	2658	c.2114A>C	c.(2113-2115)CAC>CCC	p.H705P	MYST3_uc010lxc.2_Missense_Mutation_p.H705P|MYST3_uc003xon.3_Missense_Mutation_p.H705P|MYST3_uc010lxd.2_Missense_Mutation_p.H705P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	705	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GTCATTTTGGTGATAAAGGCA	0.458													G	41801380	T	G	41801380	3	3	280	1	0	0	0	0	1	0	0	0	10104	1696	59	5	3920	5	MYST3	8	41801380	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	11105877	41801380	104562642	395	144476											
UBE2V2	7336	broad.mit.edu	37	chr8	48962467	48962467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaatgtggacctaaatacCcagaagctcctccgtcagtt	8	11	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:48962467C>A	uc003xqm.2	+	3	241	c.220C>A	c.(220-222)CCA>ACA	p.P74T		NM_003350	NP_003341	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2v2	74					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding				0		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ACCTAAATACCCAGAAGCTCC	0.299								Direct_reversal_of_damage|Rad6_pathway					A	48962467	C	A	48962467	3	1	280	1	0	0	0	0	1	0	0	0	16873	623	22	5	230	5	UBE2V2	8	48962467	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7161087	48962467	97401555	396	144477											
RP1	6101	broad.mit.edu	37	chr8	55537275	55537275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcccagatttattctgTttcttctgagaaaacacata	6	8	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:55537275T>C	uc003xsd.1	+	4	981	c.833T>C	c.(832-834)GTT>GCT	p.V278A	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	278					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			skin(7)|ovary(4)|pancreas(1)	12		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)			ATTTATTCTGTTTCTTCTGAG	0.328													C	55537275	T	C	55537275	3	2	280	1	0	0	0	0	1	0	0	0	13532	1725	60	3	843	3	RP1	8	55537275	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	6574808	55537275	90826747	397	144478											
CHD7	55636	broad.mit.edu	37	chr8	61735158	61735159	+	Frame_Shift_Ins	INS	-	-	T													tgaaaggaatccatggccctINStttttagtaattgccccatt							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:61735157_61735158C>CT	uc003xue.3	+	11	3545_3546	c.3053_3054C>CT	c.(3052-3054)cctfs	p.P1018fs	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Frame_Shift_Ins_p.P131fs	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1018	Helicase ATP-binding.				T cell differentiation|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|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.G1017G(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)			ATCCATGGCCCTTTTTTAGTAA	0.416													T	61735159	-	T	61735158	7	5	280	1	0	1	1	0	0	0	0	0	3330	1596	56	0	3096	0	CHD7	8	61735158	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	6197883	61735158	84628864	398	144479											
PDE7A	5150	broad.mit.edu	37	chr8	66659908	66659908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgtccattataatcAtcatctaaaatgtttaggga	7	6	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:66659908A>G	uc003xvq.2	-	4	426	c.414T>C	c.(412-414)GAT>GAC	p.D138D	PDE7A_uc003xvr.2_Silent_p.D138D|PDE7A_uc003xvp.2_Silent_p.D112D	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	138						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			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)	CATTATAATCATCATCTAAAA	0.333													G	66659908	A	G	66659908	2	3	280	1	0	0	0	0	0	0	0	1	11651	214	8	3		3	PDE7A	8	66659908	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4924750	66659908	79704114	399	144480											
CSPP1	79848	broad.mit.edu	37	chr8	68092151	68092151	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattattggaatctgatagTgcttttattggtgagtatat	9	3	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:68092151T>G	uc003xxi.2	+	28	3331	c.3300T>G	c.(3298-3300)AGT>AGG	p.S1100R	ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Missense_Mutation_p.S1065R|CSPP1_uc003xxk.2_Missense_Mutation_p.S720R|CSPP1_uc010lyw.2_Missense_Mutation_p.S160R	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	1100						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	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)			AATCTGATAGTGCTTTTATTG	0.284													G	68092151	T	G	68092151	3	3	280	1	0	0	0	0	1	0	0	0	3962	1693	59	5	3410	5	CSPP1	8	68092151	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1432243	68092151	78271871	400	144481											
PREX2	80243	broad.mit.edu	37	chr8	68931905	68931905	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaacctgctttcttcactTtgtaggataaatttcttttt	7	7	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:68931905T>C	uc003xxv.1	+	3	362	c.335T>C	c.(334-336)TTT>TCT	p.F112S	PREX2_uc003xxu.1_Missense_Mutation_p.F112S|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	112	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TTTCTTCACTTTGTAGGATAA	0.353													C	68931905	T	C	68931905	3	2	280	1	0	0	0	0	1	0	0	0	12477	1855	64	3	345	3	PREX2	8	68931905	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	839754	68931905	77432117	401	144482											
LAPTM4B	55353	broad.mit.edu	37	chr8	98828297	98828297	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtttagcaacgcgcagcCtggatcatcccattcttctg	8	13	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:98828297C>A	uc003yia.2	+	4	726	c.570C>A	c.(568-570)GCC>GCA	p.A190A	LAPTM4B_uc010mbg.2_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	lysosomal associated transmembrane protein 4	243					transport	endomembrane system|integral to membrane	protein binding			skin(1)	1	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			AACGCGCAGCCTGGATCATCC	0.328													A	98828297	C	A	98828297	2	1	280	1	0	0	0	0	0	0	0	1	8625	668	24	5		5	LAPTM4B	8	98828297	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	29896392	98828297	47535725	402	144483											
PKHD1L1	93035	broad.mit.edu	37	chr8	110523098	110523098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaacaaatcttatgaaGtttacttcactggcaccagt	6	10	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:110523098G>A	uc003yne.2	+	71	11592	c.11488G>A	c.(11488-11490)GTT>ATT	p.V3830I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3830	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCTTATGAAGTTTACTTCAC	0.443										HNSCC(38;0.096)			A	110523098	G	A	110523098	3	1	280	1	0	0	0	0	1	0	0	0	11972	1029	36	4	11770	4	PKHD1L1	8	110523098	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	11694801	110523098	35840924	403	144484											
CSMD3	114788	broad.mit.edu	37	chr8	113303840	113303840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgcagtcatagaataccAcagtgccgtaagtaaaattt	8	7	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:113303840A>G	uc003ynu.2	-	56	9032	c.8873T>C	c.(8872-8874)GTG>GCG	p.V2958A	CSMD3_uc003yns.2_Missense_Mutation_p.V2160A|CSMD3_uc003ynt.2_Missense_Mutation_p.V2918A|CSMD3_uc011lhx.1_Missense_Mutation_p.V2789A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2958	Extracellular (Potential).|Sushi 20.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATAGAATACCACAGTGCCGTA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113303840	A	G	113303840	3	3	280	1	0	0	0	0	1	0	0	0	3946	159	6	3	2314	3	CSMD3	8	113303840	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2780742	113303840	33060182	404	144485											
FER1L6	654463	broad.mit.edu	37	chr8	125061917	125061917	+	Frame_Shift_Del	DEL	C	C	-													tggctgaccaggactatgagCcccccaggttatgctatcac							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:125061916_125061916GC>G	uc003yqw.3	+	21	2999	c.2793_2793GC>G	c.(2791-2793)gagfs	p.E931fs	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	931						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)			AGGACTATGAGCCCCCCAGGT	0.493													-	125061917	C	-	125061917	7	5	280	1	0	1	0	1	0	0	0	0	5815	739	26	0	2876	0	FER1L6	8	125061917	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	11758077	125061917	21302105	405	144486											
TG	7038	broad.mit.edu	37	chr8	133919106	133919106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtagcctggagagcggaCgctgggagtcacagctgcct	15	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:133919106C>T	uc003ytw.2	+	17	3849	c.3808C>T	c.(3808-3810)CGC>TGC	p.R1270C	TG_uc010mdw.2_Missense_Mutation_p.R29C	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1270					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		GGAGAGCGGACGCTGGGAGTC	0.647													T	133919106	C	T	133919106	3	4	280	1	0	0	0	0	1	0	0	0	15810	536	19	1	3874	1	TG	8	133919106	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8857189	133919106	12444916	406	144487											
TG	7038	broad.mit.edu	37	chr8	133945896	133945896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcttggacaagtgacaAtgttgcctgcatgacttctg	10	9	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:133945896A>G	uc003ytw.2	+	24	4948	c.4907A>G	c.(4906-4908)AAT>AGT	p.N1636S	TG_uc010mdw.2_Missense_Mutation_p.N395S|TG_uc011ljb.1_Missense_Mutation_p.N69S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1636	Type IIIA.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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)		ACAAGTGACAATGTTGCCTGC	0.562													G	133945896	A	G	133945896	3	3	280	1	0	0	0	0	1	0	0	0	15810	101	4	3	5001	3	TG	8	133945896	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	26790	133945896	12418126	407	144488											
ZNF707	286075	broad.mit.edu	37	chr8	144776211	144776211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcgagtgccccgagtgCggccagaccttccggtgggc	15	15	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:144776211C>T	uc003yze.3	+	7	942	c.627C>T	c.(625-627)TGC>TGT	p.C209C	ZNF707_uc010mfh.2_Silent_p.C209C|ZNF707_uc010mfi.2_Silent_p.C209C|ZNF707_uc003yzf.3_Silent_p.C209C|ZNF707_uc003yzh.3_Silent_p.C136C|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	209	C2H2-type 2.				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)			GCCCCGAGTGCGGCCAGACCT	0.677													T	144776211	C	T	144776211	2	4	280	1	0	0	0	0	0	0	0	1	18108	776	27	1		1	ZNF707	8	144776211	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	10830315	144776211	1587811	408	144489											
SPATC1	375686	broad.mit.edu	37	chr8	145095792	145095792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcgcccagggtgccccccatCccccttcccgaatgcataat	7	19	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:145095792C>A	uc011lkw.1	+	3	1192	c.1090C>A	c.(1090-1092)CCC>ACC	p.P364T	SPATC1_uc011lkx.1_Missense_Mutation_p.P364T	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	364										ovary(1)|central_nervous_system(1)	2	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)			TGCCCCCCATCCCCCTTCCCG	0.512													A	145095792	C	A	145095792	3	1	280	1	0	0	0	0	1	0	0	0	15016	855	30	5	1100	5	SPATC1	8	145095792	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	319581	145095792	1268230	409	144490											
CPSF1	29894	broad.mit.edu	37	chr8	145623307	145623307	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacggcgcactgcacgatGggggcgcccaggtccacggg	17	15	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr8:145623307G>T	uc003zcj.2	-	20	2010	c.1935C>A	c.(1933-1935)CCC>CCA	p.P645P		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	645					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			skin(1)	1	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)			ACTGCACGATGGGGGCGCCCA	0.652													T	145623307	G	T	145623307	2	4	280	1	0	0	0	0	0	0	0	1	3824	1335	47	5		5	CPSF1	8	145623307	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	527515	145623307	740715	410	144491											
KANK1	23189	broad.mit.edu	37	chr9	732452	732452	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagatgacgagtgtgatgTcattgagtatcctcttgaag	12	6	3	5			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:732452T>G	uc003zgl.1	+	10	3729	c.3080T>G	c.(3079-3081)GTC>GGC	p.V1027G	KANK1_uc003zgm.2_3'UTR|KANK1_uc003zgn.1_Missense_Mutation_p.V1027G|KANK1_uc003zgs.1_Missense_Mutation_p.V869G|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1027					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		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)		GAGTGTGATGTCATTGAGTAT	0.458													G	732452	T	G	732452	3	3	280	1	0	0	0	0	1	0	0	0	7976	1667	58	5	3098	5	KANK1	9	732452	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08		732452	140480979	411	144492											
RFX3	5991	broad.mit.edu	37	chr9	3330369	3330369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagttgtcctcctgtgaCgcccatctgaatcccaccag	9	14	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:3330369C>T	uc003zhr.2	-	5	676	c.364G>A	c.(364-366)GTC>ATC	p.V122I	RFX3_uc010mhd.2_Missense_Mutation_p.V122I|RFX3_uc003zhs.1_Missense_Mutation_p.V122I|RFX3_uc003zht.1_Missense_Mutation_p.V122I|RFX3_uc010mhe.1_Missense_Mutation_p.V122I	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	122					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			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CCTCCTGTGACGCCCATCTGA	0.532													T	3330369	C	T	3330369	3	4	280	1	0	0	0	0	1	0	0	0	13264	536	19	1	2097	1	RFX3	9	3330369	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2597917	3330369	137883062	412	144493											
GLIS3	169792	broad.mit.edu	37	chr9	4117901	4117901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccctttgcgctggtcgAtgtggaccttctcgatgtgc	11	14	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:4117901A>G	uc003zhw.1	-	3	1306	c.1112T>C	c.(1111-1113)ATC>ACC	p.I371T	GLIS3_uc003zhx.1_Missense_Mutation_p.I526T|GLIS3_uc003zic.1_Missense_Mutation_p.I526T|GLIS3_uc003zie.1_Missense_Mutation_p.I526T|GLIS3_uc010mhh.1_Missense_Mutation_p.I401T|GLIS3_uc003zid.1_Missense_Mutation_p.I304T|GLIS3_uc010mhi.1_Missense_Mutation_p.I333T|GLIS3_uc003zif.1_Missense_Mutation_p.I304T|GLIS3_uc003zig.1_Missense_Mutation_p.I370T|GLIS3_uc003zih.1_Missense_Mutation_p.I304T|GLIS3_uc003zhy.1_Missense_Mutation_p.I304T|GLIS3_uc003zhz.1_Missense_Mutation_p.I304T|GLIS3_uc003zib.1_Missense_Mutation_p.I370T|GLIS3_uc010mhg.1_Missense_Mutation_p.I304T	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	371					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			ovary(1)	1		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)		GCGCTGGTCGATGTGGACCTT	0.597													G	4117901	A	G	4117901	3	3	280	1	0	0	0	0	1	0	0	0	6447	333	12	3	1247	3	GLIS3	9	4117901	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	787532	4117901	137095530	413	144494											
C9orf46	55848	broad.mit.edu	37	chr9	5358278	5358278	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactctgttcctttctggcTttttcaatgctttcaaaagt	5	10	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:5358278T>C	uc003zjc.2	-	6	609	c.405A>G	c.(403-405)AAA>AAG	p.K135K	C9orf46_uc003zjd.2_Silent_p.K135K	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	hypothetical protein LOC55848	135						integral to membrane				ovary(1)	1	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)		CCTTTCTGGCTTTTTCAATGC	0.348													C	5358278	T	C	5358278	2	2	280	1	0	0	0	0	0	0	0	1	2484	1606	56	3		3	C9orf46	9	5358278	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1240377	5358278	135855153	414	144495											
PTPRD	5789	broad.mit.edu	37	chr9	8339045	8339045	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccagtattggtgacatttCtcctaaaaggagagaagatt	11	6	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:8339045C>A	uc003zkk.2	-	42	5967	c.5256G>T	c.(5254-5256)GAG>GAT	p.E1752D	PTPRD_uc003zkp.2_Missense_Mutation_p.E1346D|PTPRD_uc003zkq.2_Missense_Mutation_p.E1345D|PTPRD_uc003zkr.2_Missense_Mutation_p.E1336D|PTPRD_uc003zks.2_Missense_Mutation_p.E1345D|PTPRD_uc003zkl.2_Missense_Mutation_p.E1743D|PTPRD_uc003zkm.2_Missense_Mutation_p.E1739D|PTPRD_uc003zkn.2_Missense_Mutation_p.E1341D|PTPRD_uc003zko.2_Missense_Mutation_p.E1342D	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1752	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		GGTGACATTTCTCCTAAAAGG	0.338										TSP Lung(15;0.13)			A	8339045	C	A	8339045	3	1	280	1	0	0	0	0	1	0	0	0	12799	912	32	5	498	5	PTPRD	9	8339045	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2980767	8339045	132874386	415	144496											
PLAA	9373	broad.mit.edu	37	chr9	26910403	26910403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagggaaataaatattcatTgttttagatgcagctgatcg	9	4	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:26910403T>C	uc003zqd.2	-	12	2015	c.1590A>G	c.(1588-1590)ACA>ACG	p.T530T	PLAA_uc003zqe.2_Silent_p.T530T	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	530					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AAATATTCATTGTTTTAGATG	0.303													C	26910403	T	C	26910403	2	2	280	1	0	0	0	0	0	0	0	1	12011	1799	63	3		3	PLAA	9	26910403	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	18571358	26910403	114303028	416	144497											
LINGO2	158038	broad.mit.edu	37	chr9	27948864	27948864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcaaatcattttcatGttgaacctcctgggtccagc	8	12	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:27948864G>T	uc003zqu.1	-	2	2000	c.1806C>A	c.(1804-1806)AAC>AAA	p.N602K	LINGO2_uc010mjf.1_Missense_Mutation_p.N602K|LINGO2_uc003zqv.1_Missense_Mutation_p.N602K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	602	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		TCATTTTCATGTTGAACCTCC	0.443													T	27948864	G	T	27948864	3	4	280	1	0	0	0	0	1	0	0	0	8815	1368	48	5	18	5	LINGO2	9	27948864	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1038461	27948864	113264567	417	144498											
RUSC2	9853	broad.mit.edu	37	chr9	35547010	35547010	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggggacaacacgcagTcgggctggagtggtggaagg	19	8	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:35547010T>A	uc003zww.2	+	2	747	c.492T>A	c.(490-492)AGT>AGA	p.S164R	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.S164R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	164						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAACACGCAGTCGGGCTGGAG	0.622													A	35547010	T	A	35547010	3	1	280	1	0	0	0	0	1	0	0	0	13751	1664	58	5	494	5	RUSC2	9	35547010	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	7598146	35547010	105666421	418	144499											
OR13J1	392309	broad.mit.edu	37	chr9	35869594	35869594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagacctcatcagagaTgtgggcttccttactcttgg	11	9	3	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:35869594T>C	uc011lph.1	-	1	805	c.805A>G	c.(805-807)ATC>GTC	p.I269V		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TCATCAGAGATGTGGGCTTCC	0.537													C	35869594	T	C	35869594	3	2	280	1	0	0	0	0	1	0	0	0	10944	1464	51	3	136	3	OR13J1	9	35869594	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	322584	35869594	105343837	419	144500											
FRMPD1	22844	broad.mit.edu	37	chr9	37746136	37746136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcccccctcacctcaccGccctctgcgggaagcccggt	10	20	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:37746136G>A	uc004aag.1	+	16	4151	c.4107G>A	c.(4105-4107)CCG>CCA	p.P1369P	FRMPD1_uc004aah.1_Silent_p.P1369P	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1369						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		TCACCTCACCGCCCTCTGCGG	0.647													A	37746136	G	A	37746136	2	1	280	1	0	0	0	0	0	0	0	1	6057	1074	38	1		1	FRMPD1	9	37746136	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1876542	37746136	103467295	420	144501											
CNTNAP3	79937	broad.mit.edu	37	chr9	39103747	39103747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggcgagcttaccacgcaGctcaatcctgatgaaatctg	10	11	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:39103747G>T	uc004abi.2	-	16	2769	c.2530C>A	c.(2530-2532)CTG>ATG	p.L844M	CNTNAP3_uc004abj.2_Missense_Mutation_p.L843M|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.L844M	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	844	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTACCACGCAGCTCAATCCTG	0.428													T	39103747	G	T	39103747	3	4	280	1	0	0	0	0	1	0	0	0	3648	962	34	5	1372	5	CNTNAP3	9	39103747	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1357611	39103747	102109684	421	144502											
PRKACG	5568	broad.mit.edu	37	chr9	71628021	71628021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctcttcctcctcgtagtCgtcaaagttactggcatccc	8	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:71628021C>T	uc004agy.2	-	1	1019	c.988G>A	c.(988-990)GAC>AAC	p.D330N		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	330	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			ovary(1)|pancreas(1)|skin(1)	3						TCCTCGTAGTCGTCAAAGTTA	0.527													T	71628021	C	T	71628021	3	4	280	1	0	0	0	0	1	0	0	0	12499	884	31	1	71	1	PRKACG	9	71628021	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	32524274	71628021	69585410	422	144503											
C9orf95	54981	broad.mit.edu	37	chr9	77684723	77684723	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctattccatatagtgtcAaggggcctaaaataacagca	7	9	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:77684723A>G	uc004aju.2	-	6	922	c.324T>C	c.(322-324)CTT>CTC	p.L108L	C9orf95_uc004ajs.3_Silent_p.L112L|C9orf95_uc004ajr.3_Silent_p.L108L|C9orf95_uc004ajt.3_Intron	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1 isoform 1	108					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0						ATATAGTGTCAAGGGGCCTAA	0.363													G	77684723	A	G	77684723	2	3	280	1	0	0	0	0	0	0	0	1	2507	117	5	3		3	C9orf95	9	77684723	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	6056702	77684723	63528708	423	144504											
GOLM1	51280	broad.mit.edu	37	chr9	88655669	88655669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacctgctgtctctggtcGttgttttcactcaggtctct	9	11	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:88655669G>A	uc004aol.2	-	6	780	c.582C>T	c.(580-582)AAC>AAT	p.N194N	GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Silent_p.N194N	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	194	Potential.|Lumenal (Potential).					Golgi apparatus|integral to plasma membrane					0						GTCTCTGGTCGTTGTTTTCAC	0.463													A	88655669	G	A	88655669	2	1	280	1	0	0	0	0	0	0	0	1	6567	1136	40	1		1	GOLM1	9	88655669	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	10970946	88655669	52557762	424	144505											
PHF2	5253	broad.mit.edu	37	chr9	96425855	96425855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagctagagaagtcGcctctagctggaaacaaaga	12	8	1	3	rs142130095		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:96425855G>A	uc004aub.2	+	14	2022	c.1875G>A	c.(1873-1875)TCG>TCA	p.S625S	PHF2_uc011lug.1_Silent_p.S508S|PHF2_uc004auc.2_Silent_p.S44S	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	625	Lys-rich.				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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TAGAGAAGTCGCCTCTAGCTG	0.507													A	96425855	G	A	96425855	2	1	280	1	0	0	0	0	0	0	0	1	11830	1074	38	1		1	PHF2	9	96425855	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	7770186	96425855	44787576	425	144506											
FAM22G	441457	broad.mit.edu	37	chr9	99697671	99697671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaggagggactgtggCgggccatgcgggaatggcag	21	8	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:99697671C>T	uc004awq.1	+	3	1490	c.775C>T	c.(775-777)CGG>TGG	p.R259W	HIATL2_uc004awr.1_Intron	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	259										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGGACTGTGGCGGGCCATGCG	0.622													T	99697671	C	T	99697671	3	4	280	1	0	0	0	0	1	0	0	0	5546	759	27	1	785	1	FAM22G	9	99697671	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3271816	99697671	41515760	426	144507											
OR13C2	392376	broad.mit.edu	37	chr9	107367621	107367621	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaacatctgcactgcacaGccagaaagggaaatggtctt	11	9	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:107367621G>T	uc011lvq.1	-	1	288	c.288C>A	c.(286-288)GGC>GGA	p.G96G		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCACTGCACAGCCAGAAAGGG	0.532													T	107367621	G	T	107367621	2	4	280	1	0	0	0	0	0	0	0	1	10934	958	34	5		5	OR13C2	9	107367621	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	7669950	107367621	33845810	427	144508											
ABCA1	19	broad.mit.edu	37	chr9	107591376	107591376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgagtaaatccaggccaGcgtcatgaagaggggcattg	13	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:107591376G>A	uc004bcl.2	-	15	2249	c.1936C>T	c.(1936-1938)CTG>TTG	p.L646L		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	646	Helical; (Potential).				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			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCCAGGCCAGCGTCATGAAG	0.562													A	107591376	G	A	107591376	2	1	280	1	0	0	0	0	0	0	0	1	28	962	34	2		2	ABCA1	9	107591376	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	223755	107591376	33622055	428	144509											
C9orf84	158401	broad.mit.edu	37	chr9	114454060	114454061	+	Frame_Shift_Ins	INS	-	-	T													cagactcatctgatagacatINSttttgctgatcagtgaataa							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:114454059_114454060A>AT	uc004bfr.3	-	24	4140_4141	c.4005_4006T>AT	c.(4003-4008)aaatgtfs	p.K1335fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Ins_p.K1296fs|C9orf84_uc010mug.3_Frame_Shift_Ins_p.K1246fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1335										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						TCTGATAGACATTTTTGCTGAT	0.391													T	114454061	-	T	114454060	7	5	280	1	0	1	1	0	0	0	0	0	2500	1490	52	0	337	0	C9orf84	9	114454060	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	6862684	114454060	26759371	429	144510											
ZNF883	169834	broad.mit.edu	37	chr9	115759835	115759835	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcattacactcatagggTttttctccagtatgaattct	6	9	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:115759835T>G	uc011lwy.1	-	5	1944	c.705A>C	c.(703-705)AAA>AAC	p.K235N		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTCATAGGGTTTTTCTCCAG	0.428													G	115759835	T	G	115759835	3	3	280	1	0	0	0	0	1	0	0	0	18195	1722	60	5	436	5	ZNF883	9	115759835	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1305775	115759835	25453596	430	144511											
RGS3	5998	broad.mit.edu	37	chr9	116279845	116279845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatctctgtaatcctgccCggaccctcctgctgtcagag	9	14	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:116279845C>T	uc004bhq.2	+	17	1908	c.1699C>T	c.(1699-1701)CGG>TGG	p.R567W	RGS3_uc004bhr.2_Missense_Mutation_p.R455W|RGS3_uc004bhs.2_Missense_Mutation_p.R457W|RGS3_uc004bht.2_Missense_Mutation_p.R286W|RGS3_uc010muy.2_Missense_Mutation_p.R286W|RGS3_uc004bhu.2_Missense_Mutation_p.R193W	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	567					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						TAATCCTGCCCGGACCCTCCT	0.557													T	116279845	C	T	116279845	3	4	280	1	0	0	0	0	1	0	0	0	13306	643	23	1	1902	1	RGS3	9	116279845	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	520010	116279845	24933586	431	144512											
COL27A1	85301	broad.mit.edu	37	chr9	116930295	116930295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacctcgacatgcacgacGggcgctggcaccacctggcc	12	17	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:116930295G>A	uc011lxl.1	+	3	460	c.460G>A	c.(460-462)GGG>AGG	p.G154R	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.G4R	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	154	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CATGCACGACGGGCGCTGGCA	0.692													A	116930295	G	A	116930295	3	1	280	1	0	0	0	0	1	0	0	0	3685	1116	39	1	470	1	COL27A1	9	116930295	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	650450	116930295	24283136	432	144513											
DFNB31	25861	broad.mit.edu	37	chr9	117266634	117266634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgctgaagcccaagccctCgtgggccttggcacgccgca	13	15	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:117266634C>T	uc004biz.3	-	1	1097	c.448G>A	c.(448-450)GAG>AAG	p.E150K	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Missense_Mutation_p.E150K|DFNB31_uc004bjb.2_Missense_Mutation_p.E150K	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	150	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCCAAGCCCTCGTGGGCCTTG	0.706													T	117266634	C	T	117266634	3	4	280	1	0	0	0	0	1	0	0	0	4455	893	31	1	2323	1	DFNB31	9	117266634	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	336339	117266634	23946797	433	144514											
PAPPA	5069	broad.mit.edu	37	chr9	118989725	118989725	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagagaattgggatcagcAtgtcatctttgcctggaagg	12	8	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:118989725A>G	uc004bjn.2	+	6	2508	c.2127A>G	c.(2125-2127)GCA>GCG	p.A709A	PAPPA_uc011lxp.1_Silent_p.A404A|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	709					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TGGGATCAGCATGTCATCTTT	0.532													G	118989725	A	G	118989725	2	3	280	1	0	0	0	0	0	0	0	1	11432	204	8	3		3	PAPPA	9	118989725	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1723091	118989725	22223706	434	144515											
ASTN2	23245	broad.mit.edu	37	chr9	119737575	119737575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccacaggcggaaccacaaAgcttttgctgacaggaagcc	10	13	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:119737575A>C	uc004bjs.1	-	10	1902	c.1801T>G	c.(1801-1803)TTT>GTT	p.F601V	ASTN2_uc004bjr.1_Missense_Mutation_p.F597V|ASTN2_uc004bjt.1_Missense_Mutation_p.F550V	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	601	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GGAACCACAAAGCTTTTGCTG	0.547													C	119737575	A	C	119737575	3	2	280	1	0	0	0	0	1	0	0	0	1065	72	3	5	2506	5	ASTN2	9	119737575	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	747850	119737575	21475856	435	144516											
TLR4	7099	broad.mit.edu	37	chr9	120475722	120475722	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatttgaaacaaatgagtgAgttttcagtattcctatcac	6	7	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:120475722A>T	uc004bjz.2	+	3	1607	c.1316A>T	c.(1315-1317)GAG>GTG	p.E439V	TLR4_uc004bka.2_Missense_Mutation_p.E399V|TLR4_uc004bkb.2_Missense_Mutation_p.E239V	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	439	LRR 13.|Extracellular (Potential).				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			lung(10)|ovary(4)|breast(1)|skin(1)	16						CAAATGAGTGAGTTTTCAGTA	0.388													T	120475722	A	T	120475722	3	4	280	1	0	0	0	0	1	0	0	0	15950	304	11	5	1326	5	TLR4	9	120475722	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	738147	120475722	20737709	436	144517											
DAB2IP	153090	broad.mit.edu	37	chr9	124543823	124543823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaacagaagatcattgAtgcccaggtgggggctccgg	13	11	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:124543823A>G	uc004bln.2	+	15	3380	c.3311A>G	c.(3310-3312)GAT>GGT	p.D1104G	DAB2IP_uc004blo.2_Missense_Mutation_p.D1008G|DAB2IP_uc004blp.2_Missense_Mutation_p.D537G	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	1132	Potential.				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			ovary(1)|central_nervous_system(1)	2						AAGATCATTGATGCCCAGGTG	0.547													G	124543823	A	G	124543823	3	3	280	1	0	0	0	0	1	0	0	0	4219	333	12	3	3369	3	DAB2IP	9	124543823	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4068101	124543823	16669608	437	144518											
MORN5	254956	broad.mit.edu	37	chr9	124936902	124936902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaccgctttctaagaaaCgcaggtaggtttcttccgac	10	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:124936902C>T	uc004blw.2	+	4	497	c.435C>T	c.(433-435)AAC>AAT	p.N145N	MORN5_uc011lyn.1_Silent_p.N145N|MORN5_uc011lyo.1_3'UTR	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	145											0						TTCTAAGAAACGCAGGTAGGT	0.448													T	124936902	C	T	124936902	2	4	280	1	0	0	0	0	0	0	0	1	9711	535	19	1		1	MORN5	9	124936902	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	393079	124936902	16276529	438	144519											
OR1L8	138881	broad.mit.edu	37	chr9	125330470	125330470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctgtgtcagacacccaGcataggagatggtcttcttt	9	10	4	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:125330470G>A	uc004bmp.1	-	1	287	c.287C>T	c.(286-288)GCT>GTT	p.A96V		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3						CAGACACCCAGCATAGGAGAT	0.473													A	125330470	G	A	125330470	3	1	280	1	0	0	0	0	1	0	0	0	10967	971	34	2	646	2	OR1L8	9	125330470	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	393568	125330470	15882961	439	144520											
GAPVD1	26130	broad.mit.edu	37	chr9	128064717	128064717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttgttgaagatgaagatcAcctggaaacagatccaaaca	9	8	1	5			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:128064717A>G	uc010mwx.2	+	5	967	c.641A>G	c.(640-642)CAC>CGC	p.H214R	GAPVD1_uc004bpo.2_Missense_Mutation_p.H214R|GAPVD1_uc011lzs.1_Missense_Mutation_p.H214R|GAPVD1_uc004bpp.2_Missense_Mutation_p.H214R|GAPVD1_uc004bpq.2_Missense_Mutation_p.H214R|GAPVD1_uc004bpr.2_Missense_Mutation_p.H214R|GAPVD1_uc004bps.2_Missense_Mutation_p.H214R|GAPVD1_uc010mwy.1_Missense_Mutation_p.H73R	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	214	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GATGAAGATCACCTGGAAACA	0.393													G	128064717	A	G	128064717	3	3	280	1	0	0	0	0	1	0	0	0	6239	159	6	3	647	3	GAPVD1	9	128064717	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2734247	128064717	13148714	440	144521											
GAPVD1	26130	broad.mit.edu	37	chr9	128099344	128099344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtcagagtctctgctgGccatgtttgatccactgtct	9	12	4	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:128099344G>A	uc010mwx.2	+	16	2802	c.2476G>A	c.(2476-2478)GCC>ACC	p.A826T	GAPVD1_uc011lzs.1_Missense_Mutation_p.A826T|GAPVD1_uc004bpp.2_Missense_Mutation_p.A853T|GAPVD1_uc004bpq.2_Missense_Mutation_p.A826T|GAPVD1_uc004bpr.2_Missense_Mutation_p.A805T|GAPVD1_uc004bps.2_Missense_Mutation_p.A826T|GAPVD1_uc010mwy.1_Intron	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	826					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GTCTCTGCTGGCCATGTTTGA	0.488													A	128099344	G	A	128099344	3	1	280	1	0	0	0	0	1	0	0	0	6239	1203	42	2	2611	2	GAPVD1	9	128099344	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	34627	128099344	13114087	441	144522											
ASB6	140459	broad.mit.edu	37	chr9	132401727	132401727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatgcaccagcagctccAccatgtccggctggttccgc	11	16	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:132401727A>G	uc004byf.1	-	3	522	c.356T>C	c.(355-357)GTG>GCG	p.V119A	ASB6_uc004bye.1_Missense_Mutation_p.V44A|ASB6_uc004byg.1_Missense_Mutation_p.V119A|ASB6_uc011mbt.1_Missense_Mutation_p.V40A|ASB6_uc010myx.1_Missense_Mutation_p.V119A	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	119	ANK 2.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CAGCAGCTCCACCATGTCCGG	0.617													G	132401727	A	G	132401727	3	3	280	1	0	0	0	0	1	0	0	0	1027	159	6	3	925	3	ASB6	9	132401727	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4302383	132401727	8811704	442	144523											
MED22	6837	broad.mit.edu	37	chr9	136208461	136208461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccagcagaggggccgagAggccatcagcagagtctgtg	16	11	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:136208461A>G	uc004cdc.2	-	5	731	c.497T>C	c.(496-498)CTC>CCC	p.L166P	MED22_uc004cdd.2_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	166					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		AGGGGCCGAGAGGCCATCAGC	0.647													G	136208461	A	G	136208461	3	3	280	1	0	0	0	0	1	0	0	0	9440	304	11	3	109	3	MED22	9	136208461	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3806734	136208461	5004970	443	144524											
TMEM8C	389827	broad.mit.edu	37	chr9	136380685	136380685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatctgctgggtgtagacGctcttgtctgggtacaggcc	13	11	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:136380685G>A	uc011mdk.1	-	4	444	c.444C>T	c.(442-444)AGC>AGT	p.S148S		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane					0						GGGTGTAGACGCTCTTGTCTG	0.597													A	136380685	G	A	136380685	2	1	280	1	0	0	0	0	0	0	0	1	16213	1078	38	1		1	TMEM8C	9	136380685	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	172224	136380685	4832746	444	144525											
BRD3	8019	broad.mit.edu	37	chr9	136913497	136913497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggggtctgacaacggcGggggcgactcactccggctg	17	12	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:136913497G>A	uc004cew.2	-	6	982	c.794C>T	c.(793-795)CCG>CTG	p.P265L	BRD3_uc004cex.2_Missense_Mutation_p.P265L	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	265						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGACAACGGCGGGGGCGACTC	0.637			T	NUT|C15orf55	lethal midline carcinoma of young people								A	136913497	G	A	136913497	3	1	280	1	0	0	0	0	1	0	0	0	1503	1116	39	1	1414	1	BRD3	9	136913497	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	532812	136913497	4299934	445	144526											
COL5A1	1289	broad.mit.edu	37	chr9	137726910	137726910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaccagaacgtcaccTaccactgctaccagtcagtg	7	17	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:137726910T>C	uc004cfe.2	+	65	5612	c.5230T>C	c.(5230-5232)TAC>CAC	p.Y1744H	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1744	Fibrillar collagen NC1.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		GAACGTCACCTACCACTGCTA	0.637													C	137726910	T	C	137726910	3	2	280	1	0	0	0	0	1	0	0	0	3696	1522	53	3	5488	3	COL5A1	9	137726910	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	813413	137726910	3486521	446	144527											
KCNT1	57582	broad.mit.edu	37	chr9	138651627	138651627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccgtgggctacggtgaCgtcacgcccaagatctggcc	12	15	2	2	rs148562086	byFrequency	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:138651627C>T	uc011mdq.1	+	11	1031	c.957C>T	c.(955-957)GAC>GAT	p.D319D	KCNT1_uc011mdr.1_Silent_p.D146D|KCNT1_uc010nbf.2_Silent_p.D274D|KCNT1_uc004cgo.1_Silent_p.D68D	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	319						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCTACGGTGACGTCACGCCCA	0.647													T	138651627	C	T	138651627	2	4	280	1	0	0	0	0	0	0	0	1	8091	535	19	1		1	KCNT1	9	138651627	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	924717	138651627	2561804	447	144528											
LCN8	138307	broad.mit.edu	37	chr9	139651016	139651016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtctatttctgagcccaCgatcttctctatctcacagc	5	14	5	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:139651016C>T	uc004cjb.1	-	3	533	c.184G>A	c.(184-186)GTG>ATG	p.V62M	LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.V62M	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	lipocalin 8	85					transport	extracellular region	binding			pancreas(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		TCTGAGCCCACGATCTTCTCT	0.552													T	139651016	C	T	139651016	3	4	280	1	0	0	0	0	1	0	0	0	8686	536	19	1	294	1	LCN8	9	139651016	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	999389	139651016	1562415	448	144529											
TUBB2C	10383	broad.mit.edu	37	chr9	140137547	140137547	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgagctcacccagcagAtgtttgatgccaagaacatg	10	12	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:140137547A>G	uc004cmh.1	+	4	979	c.877A>G	c.(877-879)ATG>GTG	p.M293V	TUBB2C_uc004cmg.1_Missense_Mutation_p.M147V	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	293					'de novo' posttranslational protein folding|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|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CACCCAGCAGATGTTTGATGC	0.652													G	140137547	A	G	140137547	3	3	280	1	0	0	0	0	1	0	0	0	16753	333	12	3	891	3	TUBB2C	9	140137547	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	486531	140137547	1075884	449	144530											
PNPLA7	375775	broad.mit.edu	37	chr9	140400093	140400095	+	In_Frame_Del	DEL	CTT	CTT	-													ttcatcagggtgagcaggtcCttcttggcagctctgaagat							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr9:140400092_140400094CCTT>C	uc010ncj.1	-	13	1782_1784	c.1445_1447AAGG>G	c.(1444-1449)aaggac>aGac	p.482_483KD>R	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_In_Frame_Del_p.457_458KD>R	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	457					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)		GTGAGCAGGTCCTTCTTGGCAGC	0.631													-	140400095	CTT	-	140400093	7	5	280	1	0	1	0	1	0	0	0	0	12170	680	24	0	2670	0	PNPLA7	9	140400093	In_Frame_Del	DEL	CTT	TCGA-HU-A4H4-01A-21D-A25D-08	262546	140400093	813338	450	144531											
PFKFB3	5209	broad.mit.edu	37	chr10	6255618	6255618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaccaactcccccaccGtcatcgtcatggtgggcctc	9	17	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:6255618G>A	uc001ije.2	+	2	493	c.109G>A	c.(109-111)GTC>ATC	p.V37I	PFKFB3_uc001ijd.2_Missense_Mutation_p.V17I|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.V51I|PFKFB3_uc001ijf.2_Missense_Mutation_p.V37I	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	37	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						CTCCCCCACCGTCATCGTCAT	0.582													A	6255618	G	A	6255618	3	1	280	1	0	0	0	0	1	0	0	0	11762	1145	40	1	135	1	PFKFB3	10	6255618	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08		6255618	129279129	451	144532											
SFMBT2	57713	broad.mit.edu	37	chr10	7213964	7213964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggggtggccggcgcaCgggctctgagccgctccgca	17	15	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:7213964C>T	uc009xio.1	-	19	2399	c.2308G>A	c.(2308-2310)GTG>ATG	p.V770M	SFMBT2_uc001ijn.1_Missense_Mutation_p.V770M|SFMBT2_uc010qay.1_Missense_Mutation_p.V605M	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	770					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GGCCGGCGCACGGGCTCTGAG	0.761													T	7213964	C	T	7213964	3	4	280	1	0	0	0	0	1	0	0	0	14158	536	19	1	388	1	SFMBT2	10	7213964	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	958346	7213964	128320783	452	144533											
BEND7	222389	broad.mit.edu	37	chr10	13542000	13542000	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctccttctttgccaactcGctgatagatccgcccagtgc	7	16	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:13542000G>T	uc001imm.2	-	3	367	c.70C>A	c.(70-72)CGA>AGA	p.R24R	BEND7_uc001imo.3_Silent_p.R24R	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	76							protein binding			ovary(1)|breast(1)	2						TTGCCAACTCGCTGATAGATC	0.483													T	13542000	G	T	13542000	2	4	280	1	0	0	0	0	0	0	0	1	1403	1095	38	5		5	BEND7	10	13542000	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6328036	13542000	121992747	453	144534											
ITGA8	8516	broad.mit.edu	37	chr10	15646264	15646264	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtatcattacaaagagTtcagcttcatatgctccttc	6	10	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:15646264T>G	uc001ioc.1	-	20	2061	c.2061A>C	c.(2059-2061)GAA>GAC	p.E687D	ITGA8_uc010qcb.1_Missense_Mutation_p.E672D	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	687	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						TTACAAAGAGTTCAGCTTCAT	0.368													G	15646264	T	G	15646264	3	3	280	1	0	0	0	0	1	0	0	0	7882	1722	60	5	1174	5	ITGA8	10	15646264	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2104264	15646264	119888483	454	144535											
C10orf68	79741	broad.mit.edu	37	chr10	33165293	33165293	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtgttacatgctgctgcccGaaaatctgtaccacacccat	7	13	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:33165293G>C	uc001iwn.3	+	22	2332	c.1859G>C	c.(1858-1860)CGA>CCA	p.R620P	C10orf68_uc001iwl.1_Missense_Mutation_p.R579P|C10orf68_uc001iwm.1_Missense_Mutation_p.R624P|C10orf68_uc010qei.1_Missense_Mutation_p.R596P|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	620										skin(2)|ovary(1)	3						GCTGCTGCCCGAAAATCTGTA	0.303													C	33165293	G	C	33165293	3	2	280	1	0	0	0	0	1	0	0	0	1613	1058	37	5	1937	5	C10orf68	10	33165293	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	17519029	33165293	102369454	455	144536											
CREM	1390	broad.mit.edu	37	chr10	35495831	35495831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttactgcagctgccactGgtgacatgccaacttaccag	9	12	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:35495831G>A	uc001iyb.2	+	7	769	c.607G>A	c.(607-609)GGT>AGT	p.G203S	CREM_uc001ixy.2_5'UTR|CREM_uc001ixz.2_5'UTR|CREM_uc001iya.2_Missense_Mutation_p.G152S|CREM_uc001iyc.2_Missense_Mutation_p.G124S|CREM_uc001iyd.2_Missense_Mutation_p.G203S|CREM_uc001iye.2_Missense_Mutation_p.G140S|CREM_uc001iyf.2_Missense_Mutation_p.G173S|CREM_uc001iyg.2_Missense_Mutation_p.G110S|CREM_uc001iyh.2_Missense_Mutation_p.G148S|CREM_uc001iyi.2_Missense_Mutation_p.G85S|CREM_uc001iyj.2_Missense_Mutation_p.G82S|CREM_uc001iyk.2_Missense_Mutation_p.G82S|CREM_uc001iyl.2_Missense_Mutation_p.G24S|CREM_uc001iym.2_Missense_Mutation_p.G24S|CREM_uc001iyn.2_Missense_Mutation_p.G12S|CREM_uc001iyo.2_Missense_Mutation_p.G12S|CREM_uc001iyp.2_Missense_Mutation_p.G6S|CREM_uc001iyq.2_Missense_Mutation_p.G16S|CREM_uc001iyr.2_Missense_Mutation_p.G16S|CREM_uc001iys.2_5'UTR|CREM_uc001iyt.2_5'UTR	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	264					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				0						AGCTGCCACTGGTGACATGCC	0.433													A	35495831	G	A	35495831	3	1	280	1	0	0	0	0	1	0	0	0	3868	1348	47	4	881	4	CREM	10	35495831	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2330538	35495831	100038916	456	144537											
ZNF37A	7587	broad.mit.edu	37	chr10	38406457	38406457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataataaaaatgggaacagCttctggctgaatgaagacct	9	6	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:38406457C>T	uc001izk.2	+	8	1197	c.378C>T	c.(376-378)AGC>AGT	p.S126S	ZNF37A_uc001izl.2_Silent_p.S126S|ZNF37A_uc001izm.2_Silent_p.S126S	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	126						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						ATGGGAACAGCTTCTGGCTGA	0.338													T	38406457	C	T	38406457	2	4	280	1	0	0	0	0	0	0	0	1	17869	796	28	2		2	ZNF37A	10	38406457	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2910626	38406457	97128290	457	144538											
ZNF37A	7587	broad.mit.edu	37	chr10	38406869	38406869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttcatttacaacagagaAcacatacaggagaaaaacct	5	10	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:38406869A>G	uc001izk.2	+	8	1609	c.790A>G	c.(790-792)ACA>GCA	p.T264A	ZNF37A_uc001izl.2_Missense_Mutation_p.T264A|ZNF37A_uc001izm.2_Missense_Mutation_p.T264A	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	264	C2H2-type 2; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						ACAACAGAGAACACATACAGG	0.373													G	38406869	A	G	38406869	3	3	280	1	0	0	0	0	1	0	0	0	17869	43	2	3	804	3	ZNF37A	10	38406869	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	412	38406869	97127878	458	144539											
CCDC6	8030	broad.mit.edu	37	chr10	61572399	61572399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaggctacgtacgctgtaActgagcagctctcagttgct	11	11	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:61572399A>G	uc001jks.3	-	5	1477	c.841T>C	c.(841-843)TTA>CTA	p.L281L		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	281	Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		GTACGCTGTAACTGAGCAGCT	0.373													G	61572399	A	G	61572399	2	3	280	1	0	0	0	0	0	0	0	1	2830	40	2	3		3	CCDC6	10	61572399	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	23165530	61572399	73962348	459	144540											
ANK3	288	broad.mit.edu	37	chr10	61829483	61829483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccatttttataggcgtgCgcaacttggggtcaacttta	9	9	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:61829483C>T	uc001jky.2	-	37	11348	c.11156G>A	c.(11155-11157)CGC>CAC	p.R3719H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	3719					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TATAGGCGTGCGCAACTTGGG	0.493													T	61829483	C	T	61829483	3	4	280	1	0	0	0	0	1	0	0	0	622	768	27	1	2318	1	ANK3	10	61829483	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	257084	61829483	73705264	460	144541											
ANK3	288	broad.mit.edu	37	chr10	61833623	61833623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcagtgggctcagctTggttacctttttcgatgtgg	12	8	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:61833623T>C	uc001jky.2	-	37	7208	c.7016A>G	c.(7015-7017)CAA>CGA	p.Q2339R	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2339					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GGGCTCAGCTTGGTTACCTTT	0.413													C	61833623	T	C	61833623	3	2	280	1	0	0	0	0	1	0	0	0	622	1812	63	3	6458	3	ANK3	10	61833623	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4140	61833623	73701124	461	144542											
TMEM26	219623	broad.mit.edu	37	chr10	63170263	63170263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgaagcacggactgccaaTgccagcaccaccaagcggta	10	14	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:63170263T>C	uc001jlo.2	-	6	1293	c.924A>G	c.(922-924)GCA>GCG	p.A308A	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	308						integral to membrane					0	Prostate(12;0.0112)					GGACTGCCAATGCCAGCACCA	0.537													C	63170263	T	C	63170263	2	2	280	1	0	0	0	0	0	0	0	1	16148	1451	51	3		3	TMEM26	10	63170263	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1336640	63170263	72364484	462	144543											
MYPN	84665	broad.mit.edu	37	chr10	69948695	69948695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagctttgagcagaggctgAtgaatgaaatagagtttcgc	12	6	0	6			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:69948695A>G	uc001jnm.3	+	14	2922	c.2737A>G	c.(2737-2739)ATG>GTG	p.M913V	MYPN_uc001jnn.3_Missense_Mutation_p.M638V|MYPN_uc001jno.3_Missense_Mutation_p.M913V|MYPN_uc009xpt.2_Missense_Mutation_p.M913V|MYPN_uc010qit.1_Missense_Mutation_p.M619V|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	913						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						GCAGAGGCTGATGAATGAAAT	0.403													G	69948695	A	G	69948695	3	3	280	1	0	0	0	0	1	0	0	0	10098	333	12	3	2783	3	MYPN	10	69948695	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	6778432	69948695	65586052	463	144544											
MYPN	84665	broad.mit.edu	37	chr10	69957155	69957155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagagcccctacaggaaCgctttttccgaccacatttc	6	14	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:69957155C>T	uc001jnm.3	+	17	3390	c.3205C>T	c.(3205-3207)CGC>TGC	p.R1069C	MYPN_uc001jnn.3_Missense_Mutation_p.R794C|MYPN_uc001jno.3_Missense_Mutation_p.R1069C|MYPN_uc009xpt.2_Missense_Mutation_p.R1069C|MYPN_uc010qit.1_Missense_Mutation_p.R775C|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	1069	Interaction with ACTN.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						CCTACAGGAACGCTTTTTCCG	0.473													T	69957155	C	T	69957155	3	4	280	1	0	0	0	0	1	0	0	0	10098	536	19	1	3263	1	MYPN	10	69957155	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8460	69957155	65577592	464	144545											
TET1	80312	broad.mit.edu	37	chr10	70406188	70406188	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccattatgcaacccaaaacAgtatttccaccactcactca	2	15	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:70406188A>T	uc001jok.3	+	4	4207	c.3702A>T	c.(3700-3702)ACA>ACT	p.T1234T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1234					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						AACCCAAAACAGTATTTCCAC	0.393													T	70406188	A	T	70406188	2	4	280	1	0	0	0	0	0	0	0	1	15766	175	7	5		5	TET1	10	70406188	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	449033	70406188	65128559	465	144546											
TET1	80312	broad.mit.edu	37	chr10	70406221	70406221	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcactcagataaaattacaGagatatcctgaatcagcaga	6	9	3	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:70406221G>T	uc001jok.3	+	4	4240	c.3735G>T	c.(3733-3735)CAG>CAT	p.Q1245H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1245					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TAAAATTACAGAGATATCCTG	0.408													T	70406221	G	T	70406221	3	4	280	1	0	0	0	0	1	0	0	0	15766	933	33	5	3745	5	TET1	10	70406221	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	33	70406221	65128526	466	144547											
PSAP	5660	broad.mit.edu	37	chr10	73579295	73579295	+	Frame_Shift_Del	DEL	T	T	-													ggatctcctgcttggtgctgTttttctccaggttgcgatcc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:73579294_73579294GT>G	uc001jsm.3	-	10	1382	c.1278_1278AC>C	c.(1276-1278)aacfs	p.N426fs		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	426	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCTTGGTGCTGTTTTTCTCCA	0.567													-	73579295	T	-	73579295	7	5	280	1	0	1	0	1	0	0	0	0	12643	1725	60	0	313	0	PSAP	10	73579295	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	3173074	73579295	61955452	467	144548											
SPOCK2	9806	broad.mit.edu	37	chr10	73823934	73823934	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcctggtctggcccctcAcctggcttcttcttggcggc	12	15	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:73823934A>G	uc001jso.1	-	9	1436	c.991_splice	c.e9+1	p.G331_splice	SPOCK2_uc001jsp.2_Splice_Site_p.G331_splice	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains						extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						CTGGCCCCTCACCTGGCTTCT	0.647													G	73823934	A	G	73823934	5	3	280	1	0	0	0	0	0	0	1	0	15079	173	6	3	293	3	SPOCK2	10	73823934	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	244639	73823934	61710813	468	144549											
USP54	159195	broad.mit.edu	37	chr10	75276635	75276635	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagaggattgttgctttgcCcatggccagtggcctttctc	12	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:75276635C>G	uc001juo.2	-	18	3566	c.3549G>C	c.(3547-3549)TGG>TGC	p.W1183C	USP54_uc010qkk.1_Missense_Mutation_p.W365C|USP54_uc001juk.2_Missense_Mutation_p.W271C|USP54_uc001jul.2_Missense_Mutation_p.W271C|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1183					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					GTTGCTTTGCCCATGGCCAGT	0.488													G	75276635	C	G	75276635	3	3	280	1	0	0	0	0	1	0	0	0	17082	624	22	5	1525	5	USP54	10	75276635	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1452701	75276635	60258112	469	144550											
SFTPA2	729238	broad.mit.edu	37	chr10	81317025	81317025	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcattccactgcccatcTgtgtacatctccacacactg	5	16	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:81317025T>G	uc001kal.3	-	6	784	c.687A>C	c.(685-687)ACA>ACC	p.T229T	SFTPA2_uc001kan.3_Silent_p.T229T	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	229	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	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)			ACTGCCCATCTGTGTACATCT	0.557									Pulmonary_Fibrosis_Idiopathic				G	81317025	T	G	81317025	2	3	280	1	0	0	0	0	0	0	0	1	14190	1567	55	5		5	SFTPA2	10	81317025	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	6040390	81317025	54217722	470	144551											
PAPSS2	9060	broad.mit.edu	37	chr10	89468995	89468995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtagtctatcaggcccacCatgtgagcaggaataagaga	11	8	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:89468995C>A	uc001kex.2	+	2	333	c.70C>A	c.(70-72)CAT>AAT	p.H24N	PAPSS2_uc001kew.2_Missense_Mutation_p.H24N|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	24	Adenylyl-sulfate kinase.				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)|skin(1)	2		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)		TCAGGCCCACCATGTGAGCAG	0.403													A	89468995	C	A	89468995	3	1	280	1	0	0	0	0	1	0	0	0	11435	594	21	5	76	5	PAPSS2	10	89468995	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8151970	89468995	46065752	471	144552											
BTAF1	9044	broad.mit.edu	37	chr10	93770836	93770836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttctaaataaaggttacaGcaccaagtaaaaaggcacaa	6	7	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:93770836G>T	uc001khr.2	+	29	4208	c.4110G>T	c.(4108-4110)CAG>CAT	p.Q1370H		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1370	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AAAGGTTACAGCACCAAGTAA	0.289													T	93770836	G	T	93770836	3	4	280	1	0	0	0	0	1	0	0	0	1536	962	34	5	4224	5	BTAF1	10	93770836	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4301841	93770836	41763911	472	144553											
SORBS1	10580	broad.mit.edu	37	chr10	97194454	97194454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcagaaatagagcgtgCgcgtaaagggtcggcagttg	15	7	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:97194454C>T	uc001kkp.2	-	3	142	c.97G>A	c.(97-99)GCA>ACA	p.A33T	SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Missense_Mutation_p.A21T|SORBS1_uc001kko.2_Missense_Mutation_p.A33T|SORBS1_uc001kkq.2_Missense_Mutation_p.A33T|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Missense_Mutation_p.A33T|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.A33T|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	33					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			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATAGAGCGTGCGCGTAAAGGG	0.478													T	97194454	C	T	97194454	3	4	280	1	0	0	0	0	1	0	0	0	14927	768	27	1	4094	1	SORBS1	10	97194454	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3423618	97194454	38340293	473	144554											
ENTPD1	953	broad.mit.edu	37	chr10	97605200	97605200	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggagcctctacacaAgtcacttttgtaccccaaaa	8	12	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:97605200A>C	uc001klh.3	+	6	984	c.660A>C	c.(658-660)CAA>CAC	p.Q220H	ENTPD1_uc001kle.1_Missense_Mutation_p.Q227H|ENTPD1_uc001kli.3_Missense_Mutation_p.Q227H|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.Q232H|ENTPD1_uc010qok.1_Missense_Mutation_p.Q112H|ENTPD1_uc010qol.1_Missense_Mutation_p.Q112H|ENTPD1_uc010qom.1_Missense_Mutation_p.Q220H|ENTPD1_uc010qon.1_Missense_Mutation_p.Q82H|ENTPD1_uc009xva.2_Missense_Mutation_p.Q82H|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	220	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CCTCTACACAAGTCACTTTTG	0.448													C	97605200	A	C	97605200	3	2	280	1	0	0	0	0	1	0	0	0	5138	69	3	5	779	5	ENTPD1	10	97605200	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	410746	97605200	37929547	474	144555											
LOXL4	84171	broad.mit.edu	37	chr10	100017803	100017803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccagctgacgacacacgAcactggcagagatgaggttc	12	12	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:100017803A>G	uc001kpa.1	-	7	1191	c.1040T>C	c.(1039-1041)GTC>GCC	p.V347A		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	347	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		ACGACACACGACACTGGCAGA	0.667													G	100017803	A	G	100017803	3	3	280	1	0	0	0	0	1	0	0	0	8902	275	10	3	1266	3	LOXL4	10	100017803	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2412603	100017803	35516944	475	144556											
NOLC1	9221	broad.mit.edu	37	chr10	103917033	103917033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatccagtgacagtgaGgacagcagcgaggaggagga	16	9	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:103917033G>T	uc001kuo.2	+	3	499	c.264G>T	c.(262-264)GAG>GAT	p.E88D	NOLC1_uc001kup.2_Missense_Mutation_p.E88D|NOLC1_uc001kuq.2_Missense_Mutation_p.E89D|NOLC1_uc009xxb.1_Intron|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	88	11 X 12 AA approximate repeats of an acidic serine cluster.|Acidic serine cluster 1.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GTGACAGTGAGGACAGCAGCG	0.532													T	103917033	G	T	103917033	3	4	280	1	0	0	0	0	1	0	0	0	10529	991	35	5	274	5	NOLC1	10	103917033	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	3899230	103917033	31617714	476	144557											
SFXN2	118980	broad.mit.edu	37	chr10	104493348	104493348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccccattgcaggtcatgcTgagcgggtgcttgtaagtat	13	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:104493348T>C	uc001kwb.2	+	10	975	c.809T>C	c.(808-810)CTG>CCG	p.L270P	SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_RNA	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	270	Helical; (Potential).				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAGGTCATGCTGAGCGGGTGC	0.463													C	104493348	T	C	104493348	3	2	280	1	0	0	0	0	1	0	0	0	14195	1580	55	3	843	3	SFXN2	10	104493348	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	576315	104493348	31041399	477	144558											
INA	9118	broad.mit.edu	37	chr10	105037208	105037208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggacctgagccaggcGgcggcgcgcaccaacgagta	17	13	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:105037208G>A	uc001kws.2	+	1	289	c.240G>A	c.(238-240)GCG>GCA	p.A80A	uc001kwr.2_5'Flank|INA_uc009xxj.2_Silent_p.A80A	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	80	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGAGCCAGGCGGCGGCGCGCA	0.692													A	105037208	G	A	105037208	2	1	280	1	0	0	0	0	0	0	0	1	7730	1103	39	1		1	INA	10	105037208	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	543860	105037208	30497539	478	144559											
BAG3	9531	broad.mit.edu	37	chr10	121436122	121436122	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggattctaaacctgtttcCcagaagcccccacctccctc	6	17	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:121436122C>A	uc001lem.2	+	4	1362	c.1056C>A	c.(1054-1056)TCC>TCA	p.S352S	BAG3_uc001lel.2_Silent_p.S351S	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	352					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AACCTGTTTCCCAGAAGCCCC	0.552													A	121436122	C	A	121436122	2	1	280	1	0	0	0	0	0	0	0	1	1288	610	22	5		5	BAG3	10	121436122	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	16398914	121436122	14098625	479	144560											
WDR11	55717	broad.mit.edu	37	chr10	122624600	122624600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattgccttcagttggcatAcctgccttcaaaaaggaatc	8	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:122624600A>G	uc010qtf.1	+	6	993	c.755A>G	c.(754-756)TAC>TGC	p.Y252C	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_Translation_Start_Site	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	252						integral to membrane					0						CAGTTGGCATACCTGCCTTCA	0.378													G	122624600	A	G	122624600	3	3	280	1	0	0	0	0	1	0	0	0	17270	391	14	3	777	3	WDR11	10	122624600	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1188478	122624600	12910147	480	144561											
DMBT1	1755	broad.mit.edu	37	chr10	124402699	124402699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgcattgcccgcttcCggttcagggccttccacttc	8	17	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:124402699C>T	uc001lgk.1	+	53	7133	c.7027C>T	c.(7027-7029)CGG>TGG	p.R2343W	DMBT1_uc001lgl.1_Missense_Mutation_p.R2333W|DMBT1_uc001lgm.1_Missense_Mutation_p.R1715W|DMBT1_uc009xzz.1_Missense_Mutation_p.R2342W|DMBT1_uc010qtx.1_Missense_Mutation_p.R1063W|DMBT1_uc009yab.1_Missense_Mutation_p.R1046W|DMBT1_uc009yac.1_Missense_Mutation_p.R637W	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2343	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCCCGCTTCCGGTTCAGGGC	0.587													T	124402699	C	T	124402699	3	4	280	1	0	0	0	0	1	0	0	0	4577	643	23	1	7237	1	DMBT1	10	124402699	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1778099	124402699	11132048	481	144562											
VENTX	27287	broad.mit.edu	37	chr10	135053206	135053206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggagccaaataccttgCgggccccccgtgtccgcaca	11	15	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr10:135053206C>T	uc010quy.1	+	2	279	c.268C>T	c.(268-270)CGG>TGG	p.R90W		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	90					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AAATACCTTGCGGGCCCCCCG	0.612													T	135053206	C	T	135053206	3	4	280	1	0	0	0	0	1	0	0	0	17150	759	27	1	274	1	VENTX	10	135053206	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	10650507	135053206	481541	482	144563											
RIC8A	60626	broad.mit.edu	37	chr11	214246	214246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaacagagtcatccagCcaatggggatgagtccccgg	13	11	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:214246C>T	uc001log.2	+	10	1817	c.1492C>T	c.(1492-1494)CCA>TCA	p.P498S	RIC8A_uc001lof.2_Missense_Mutation_p.P504S|RIC8A_uc001loh.2_Missense_Mutation_p.P491S	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	498						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGTCATCCAGCCAATGGGGAT	0.547													T	214246	C	T	214246	3	4	280	1	0	0	0	0	1	0	0	0	13355	739	26	2	1548	2	RIC8A	11	214246	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08		214246	134792270	483	144564											
LRDD	55367	broad.mit.edu	37	chr11	800377	800377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtccagagtggtggtcaCgtatacctccttcacattct	9	13	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:800377C>T	uc001lro.1	-	13	2258	c.2116G>A	c.(2116-2118)GTG>ATG	p.V706M	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_Intron|LRDD_uc001lrk.1_Intron|LRDD_uc001lrl.1_Missense_Mutation_p.V549M|LRDD_uc001lrm.1_Missense_Mutation_p.V393M|LRDD_uc001lrn.1_Missense_Mutation_p.V549M|LRDD_uc001lrp.1_Intron	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	706					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		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)		GTGGTGGTCACGTATACCTCC	0.642													T	800377	C	T	800377	3	4	280	1	0	0	0	0	1	0	0	0	8936	536	19	1	632	1	LRDD	11	800377	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	586131	800377	134206139	484	144565											
MUC5B	727897	broad.mit.edu	37	chr11	1283556	1283556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaccaggaagcctctgGgaaggccaggcagggtgggg	20	8	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:1283556G>T	uc009ycr.1	+	72	18440	c.18314G>T	c.(18313-18315)GGG>GTG	p.G6105V		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:Variant_position_missing_in_Q9HC84_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		GAAGCCTCTGGGAAGGCCAGG	0.677													T	1283556	G	T	1283556	3	4	280	1	0	0	0	0	1	0	0	0	9979	1247	43	5		5	MUC5B	11	1283556	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	483179	1283556	133722960	485	144566											
BRSK2	9024	broad.mit.edu	37	chr11	1477636	1477636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccgggccgagtacaaggCcacgggggggccagccgtgt	17	13	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:1477636C>A	uc001lti.2	+	17	2113	c.1727C>A	c.(1726-1728)GCC>GAC	p.A576D	BRSK2_uc009ycv.1_Missense_Mutation_p.A598D|BRSK2_uc001lth.1_Missense_Mutation_p.A576D|BRSK2_uc001ltj.2_Missense_Mutation_p.A576D|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.A576D|BRSK2_uc001ltm.2_Missense_Mutation_p.A622D|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_Missense_Mutation_p.A72D	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	576					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		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)		GAGTACAAGGCCACGGGGGGG	0.622													A	1477636	C	A	1477636	3	1	280	1	0	0	0	0	1	0	0	0	1524	739	26	5	1793	5	BRSK2	11	1477636	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	194080	1477636	133528880	486	144567											
OR52D1	390066	broad.mit.edu	37	chr11	5510028	5510028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcccacttctggattgCcatccctttctgtgccatgt	9	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:5510028C>T	uc010qzg.1	+	1	92	c.92C>T	c.(91-93)GCC>GTC	p.A31V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		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)		TTCTGGATTGCCATCCCTTTC	0.502													T	5510028	C	T	5510028	3	4	280	1	0	0	0	0	1	0	0	0	11114	739	26	2	94	2	OR52D1	11	5510028	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4032392	5510028	129496488	487	144568											
OR56A3	390083	broad.mit.edu	37	chr11	5969479	5969479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttacggggtgagaacccaAgaaattaagcagggaatgca	12	6	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:5969479A>T	uc010qzt.1	+	1	903	c.903A>T	c.(901-903)CAA>CAT	p.Q301H		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)		TGAGAACCCAAGAAATTAAGC	0.418													T	5969479	A	T	5969479	3	4	280	1	0	0	0	0	1	0	0	0	11134	69	3	5	905	5	OR56A3	11	5969479	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	459451	5969479	129037037	488	144569											
OR56A4	120793	broad.mit.edu	37	chr11	6023669	6023669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagagtttggacacagacAggttactgcagatgcagttc	12	7	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:6023669A>G	uc010qzv.1	-	1	710	c.710T>C	c.(709-711)CTG>CCG	p.L237P		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		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)		GGACACAGACAGGTTACTGCA	0.458													G	6023669	A	G	6023669	3	3	280	1	0	0	0	0	1	0	0	0	11135	188	7	3	389	3	OR56A4	11	6023669	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	54190	6023669	128982847	489	144570											
DCHS1	8642	broad.mit.edu	37	chr11	6662259	6662259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcccatctggaccggggcGtgtctccagccggaaggtct	14	13	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:6662259G>A	uc001mem.1	-	2	996	c.586C>T	c.(586-588)CGC>TGC	p.R196C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	196	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGACCGGGGCGTGTCTCCAGC	0.602													A	6662259	G	A	6662259	3	1	280	1	0	0	0	0	1	0	0	0	4287	1145	40	1	9390	1	DCHS1	11	6662259	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	638590	6662259	128344257	490	144571											
GALNTL4	374378	broad.mit.edu	37	chr11	11400810	11400810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcttctccttcagttcCtctgtcagggagaaaatgca	9	11	5	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:11400810C>A	uc001mjo.2	-	4	1018	c.597G>T	c.(595-597)GAG>GAT	p.E199D		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	199	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CCTTCAGTTCCTCTGTCAGGG	0.532													A	11400810	C	A	11400810	3	1	280	1	0	0	0	0	1	0	0	0	6223	695	24	5	1258	5	GALNTL4	11	11400810	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4738551	11400810	123605706	491	144572											
MICAL2	9645	broad.mit.edu	37	chr11	12225943	12225943	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaccatccatgacctTcgtggcctgggagccaagaa	9	14	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:12225943T>C	uc001mjz.2	+	4	699	c.411T>C	c.(409-411)CTT>CTC	p.L137L	MICAL2_uc010rch.1_Silent_p.L137L|MICAL2_uc001mjy.2_Silent_p.L137L|MICAL2_uc001mka.2_Silent_p.L137L|MICAL2_uc010rci.1_Silent_p.L137L|MICAL2_uc001mkb.2_Silent_p.L137L|MICAL2_uc001mkc.2_Silent_p.L137L	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	137						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TCCATGACCTTCGTGGCCTGG	0.547													C	12225943	T	C	12225943	2	2	280	1	0	0	0	0	0	0	0	1	9570	1770	62	3		3	MICAL2	11	12225943	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	825133	12225943	122780573	492	144573											
PDE3B	5140	broad.mit.edu	37	chr11	14793532	14793532	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggtataagcctcattatcAagtaagtataattaatatct	5	5	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:14793532A>T	uc001mln.2	+	2	1381	c.1028A>T	c.(1027-1029)CAA>CTA	p.Q343L	PDE3B_uc001mlm.2_Missense_Mutation_p.Q343L|PDE3B_uc010rcr.1_Missense_Mutation_p.Q343L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	343					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						CCTCATTATCAAGTAAGTATA	0.269													T	14793532	A	T	14793532	3	4	280	1	0	0	0	0	1	0	0	0	11638	144	5	5	1034	5	PDE3B	11	14793532	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2567589	14793532	120212984	493	144574											
SLC6A5	9152	broad.mit.edu	37	chr11	20628577	20628577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcatcccttacctgaTgatgctggctctggctggat	9	12	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:20628577T>A	uc001mqd.2	+	4	977	c.704T>A	c.(703-705)ATG>AAG	p.M235K	SLC6A5_uc009yic.2_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	235	Helical; Name=2; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	CCTTACCTGATGATGCTGGCT	0.577													A	20628577	T	A	20628577	3	1	280	1	0	0	0	0	1	0	0	0	14687	1464	51	5	718	5	SLC6A5	11	20628577	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	5835045	20628577	114377939	494	144575											
NELL1	4745	broad.mit.edu	37	chr11	21594807	21594807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctatcttagaaggggaatGttgtccccgctgtgtcagtg	13	8	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:21594807G>A	uc001mqe.2	+	19	2387	c.2234G>A	c.(2233-2235)TGT>TAT	p.C745Y	NELL1_uc001mqf.2_Missense_Mutation_p.C698Y|NELL1_uc009yid.2_Missense_Mutation_p.C773Y|NELL1_uc010rdo.1_Missense_Mutation_p.C688Y|NELL1_uc010rdp.1_Missense_Mutation_p.C458Y|NELL1_uc001mqh.2_Missense_Mutation_p.C290Y	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	745	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GAAGGGGAATGTTGTCCCCGC	0.483													A	21594807	G	A	21594807	3	1	280	1	0	0	0	0	1	0	0	0	10333	1377	48	4	2308	4	NELL1	11	21594807	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	966230	21594807	113411709	495	144576											
TCP11L1	55346	broad.mit.edu	37	chr11	33083248	33083248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcttctgaagtgggaCcacctccagaggccgttccc	11	14	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:33083248C>T	uc001mud.2	+	7	1348	c.948C>T	c.(946-948)GAC>GAT	p.D316D	TCP11L1_uc009yju.2_Silent_p.D131D|TCP11L1_uc010rei.1_Silent_p.D316D|TCP11L1_uc001mue.2_Silent_p.D316D|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	316											0						TGAAGTGGGACCACCTCCAGA	0.512													T	33083248	C	T	33083248	2	4	280	1	0	0	0	0	0	0	0	1	15711	506	18	4		4	TCP11L1	11	33083248	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	11488441	33083248	101923268	496	144577											
CHST1	8534	broad.mit.edu	37	chr11	45672305	45672305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgggtcttgcgggagaGgttgtaggcgaaggtggggc	22	4	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:45672305G>T	uc001mys.1	-	4	840	c.169C>A	c.(169-171)CTC>ATC	p.L57I		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	57	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TTGCGGGAGAGGTTGTAGGCG	0.652													T	45672305	G	T	45672305	3	4	280	1	0	0	0	0	1	0	0	0	3397	1000	35	5	1070	5	CHST1	11	45672305	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	12589057	45672305	89334211	497	144578											
CKAP5	9793	broad.mit.edu	37	chr11	46812089	46812089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttccagtattccctgcGcctcctggtgcagctggttt	11	12	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:46812089G>A	uc001ndi.1	-	14	1805	c.1695C>T	c.(1693-1695)GGC>GGT	p.G565G	CKAP5_uc009ylg.1_Silent_p.G451G|CKAP5_uc001ndj.1_Silent_p.G565G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	565					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|protein binding			ovary(1)|skin(1)	2						TATTCCCTGCGCCTCCTGGTG	0.423													A	46812089	G	A	46812089	2	1	280	1	0	0	0	0	0	0	0	1	3445	1074	38	1		1	CKAP5	11	46812089	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1139784	46812089	88194427	498	144579											
OR4C13	283092	broad.mit.edu	37	chr11	49974000	49974000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatagaaacaatgtgacagAgtttattctattggggctta	10	4	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:49974000A>G	uc010rhz.1	+	1	26	c.26A>G	c.(25-27)GAG>GGG	p.E9G		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						AATGTGACAGAGTTTATTCTA	0.299													G	49974000	A	G	49974000	3	3	280	1	0	0	0	0	1	0	0	0	11047	304	11	3	28	3	OR4C13	11	49974000	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3161911	49974000	85032516	499	144580											
OR4C12	283093	broad.mit.edu	37	chr11	50003299	50003299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacagggcacaaagaataAgacaactactatgatgtgag	9	6	0	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:50003299A>C	uc010ria.1	-	1	739	c.739T>G	c.(739-741)TTA>GTA	p.L247V		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						ACAAAGAATAAGACAACTACT	0.413													C	50003299	A	C	50003299	3	2	280	1	0	0	0	0	1	0	0	0	11046	69	3	5	194	5	OR4C12	11	50003299	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	29299	50003299	85003217	500	144581											
OR8K1	390157	broad.mit.edu	37	chr11	56113902	56113902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggcctatgatcgctacGtagccatctgtaaacctctt	7	12	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:56113902G>A	uc010rjg.1	+	1	388	c.388G>A	c.(388-390)GTA>ATA	p.V130I		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TGATCGCTACGTAGCCATCTG	0.413										HNSCC(65;0.19)			A	56113902	G	A	56113902	3	1	280	1	0	0	0	0	1	0	0	0	11243	1145	40	1	390	1	OR8K1	11	56113902	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6110603	56113902	78892614	501	144582											
OR5R1	219479	broad.mit.edu	37	chr11	56184755	56184755	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taataaagttttcttattttTaaaaatgttaatatctgtaa	3	2	2	0	rs141438285		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:56184755T>A	uc010rji.1	-	1	954	c.954A>T	c.(952-954)TTA>TTT	p.L318F		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	318	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TTCTTATTTTTAAAAATGTTA	0.294													A	56184755	T	A	56184755	3	1	280	1	0	0	0	0	1	0	0	0	11180	1751	61	5	22	5	OR5R1	11	56184755	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	70853	56184755	78821761	502	144583											
OR5B2	390190	broad.mit.edu	37	chr11	58190401	58190401	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataggccattgaggccaacaAgtaattttccaccgtggcca	9	11	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:58190401A>T	uc010rkg.1	-	1	334	c.334T>A	c.(334-336)TTG>ATG	p.L112M		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGGCCAACAAGTAATTTTCC	0.527													T	58190401	A	T	58190401	3	4	280	1	0	0	0	0	1	0	0	0	11150	69	3	5	599	5	OR5B2	11	58190401	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2005646	58190401	76816115	503	144584											
DAGLA	747	broad.mit.edu	37	chr11	61490943	61490943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtagtcatcctcagtgtGtgcatcactgtcctctgcgt	11	11	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:61490943G>A	uc001nsa.2	+	5	558	c.447G>A	c.(445-447)GTG>GTA	p.V149V		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	149	Helical; (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TCCTCAGTGTGTGCATCACTG	0.612													A	61490943	G	A	61490943	2	1	280	1	0	0	0	0	0	0	0	1	4226	1364	48	4		4	DAGLA	11	61490943	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	3300542	61490943	73515573	504	144585											
TUT1	64852	broad.mit.edu	37	chr11	62358925	62358925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggaaccccccacgcggCagcgattcgacatccgaatc	10	17	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:62358925C>T	uc001nto.2	-	1	185	c.147G>A	c.(145-147)CTG>CTA	p.L49L		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	11					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCCCACGCGGCAGCGATTCGA	0.612													T	62358925	C	T	62358925	2	4	280	1	0	0	0	0	0	0	0	1	16777	697	25	2		2	TUT1	11	62358925	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	867982	62358925	72647591	505	144586											
C11orf68	83638	broad.mit.edu	37	chr11	65685438	65685438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttggggctgtagccctgcCcatacactgcaatccagccc	10	15	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:65685438C>A	uc001ogi.2	-	2	403	c.374G>T	c.(373-375)GGG>GTG	p.G125V	C11orf68_uc009yqv.2_Missense_Mutation_p.G124V|DRAP1_uc001ogj.1_5'Flank	NM_001135635	NP_001129107	Q9H3H3	CK068_HUMAN	basophilic leukemia expressed protein BLES03	83											0				READ - Rectum adenocarcinoma(159;0.166)		GTAGCCCTGCCCATACACTGC	0.657													A	65685438	C	A	65685438	3	1	280	1	0	0	0	0	1	0	0	0	1658	623	22	5	511	5	C11orf68	11	65685438	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3326513	65685438	69321078	506	144587											
RBM4	5936	broad.mit.edu	37	chr11	66407488	66407488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtttgaggagtatggTccggtcatcgaatgtgacat	13	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:66407488T>C	uc009yrj.2	+	2	794	c.306T>C	c.(304-306)GGT>GGC	p.G102G	RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Silent_p.G102G|RBM4_uc001oiw.1_Silent_p.G102G|RBM4_uc001oix.1_Silent_p.G102G|RBM4_uc010rpj.1_Silent_p.G102G|RBM4_uc001oiy.1_Silent_p.G102G|RBM4_uc001oiz.1_Silent_p.G102G	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	102	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGGAGTATGGTCCGGTCATCG	0.502													C	66407488	T	C	66407488	2	2	280	1	0	0	0	0	0	0	0	1	13134	1654	58	3		3	RBM4	11	66407488	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	722050	66407488	68599028	507	144588											
KDM2A	22992	broad.mit.edu	37	chr11	67018182	67018182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagacgaaagctggatgcAgcgggaggtctggatgtctg	18	6	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:67018182A>G	uc001ojw.2	+	17	3545	c.2681A>G	c.(2680-2682)CAG>CGG	p.Q894R	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Missense_Mutation_p.Q588R|KDM2A_uc010rpn.1_Missense_Mutation_p.Q455R|KDM2A_uc001ojz.1_Missense_Mutation_p.Q352R|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	894	F-box.				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			ovary(4)|lung(3)|breast(1)|skin(1)	9						AGCTGGATGCAGCGGGAGGTC	0.512													G	67018182	A	G	67018182	3	3	280	1	0	0	0	0	1	0	0	0	8124	188	7	3	2743	3	KDM2A	11	67018182	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	610694	67018182	67988334	508	144589											
SSH3	54961	broad.mit.edu	37	chr11	67076921	67076921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacttctaccctgagcGcttcacctaccacaatgtgc	6	15	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:67076921G>A	uc001okj.2	+	11	1293	c.1115G>A	c.(1114-1116)CGC>CAC	p.R372H	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.R226H	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	372	Tyrosine-protein phosphatase.				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			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TACCCTGAGCGCTTCACCTAC	0.612													A	67076921	G	A	67076921	3	1	280	1	0	0	0	0	1	0	0	0	15185	1087	38	1	1157	1	SSH3	11	67076921	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	58739	67076921	67929595	509	144590											
PITPNM1	9600	broad.mit.edu	37	chr11	67270120	67270120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cccgctgcccccgggcccatCcgtgtagggccggttggcca	14	18	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:67270120C>A	uc001olx.2	-	2	337	c.148G>T	c.(148-150)GAT>TAT	p.D50Y	PITPNM1_uc001oly.2_Missense_Mutation_p.D50Y|PITPNM1_uc001olz.2_Missense_Mutation_p.D50Y	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	50					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			lung(2)|central_nervous_system(1)	3						CCGGGCCCATCCGTGTAGGGC	0.662													A	67270120	C	A	67270120	3	1	280	1	0	0	0	0	1	0	0	0	11950	855	30	5	3674	5	PITPNM1	11	67270120	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	193199	67270120	67736396	510	144591											
PITPNM1	9600	broad.mit.edu	37	chr11	67270134	67270134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccgtgtagggccggTtggccaggatctccacgccg	14	15	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:67270134T>G	uc001olx.2	-	2	323	c.134A>C	c.(133-135)AAC>ACC	p.N45T	PITPNM1_uc001oly.2_Missense_Mutation_p.N45T|PITPNM1_uc001olz.2_Missense_Mutation_p.N45T	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	45					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			lung(2)|central_nervous_system(1)	3						GTAGGGCCGGTTGGCCAGGAT	0.657													G	67270134	T	G	67270134	3	3	280	1	0	0	0	0	1	0	0	0	11950	1725	60	5	3688	5	PITPNM1	11	67270134	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	14	67270134	67736382	511	144592											
CTTN	2017	broad.mit.edu	37	chr11	70253656	70253656	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggagcaaagatggggTgccaagacggtgcagggctc	18	7	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:70253656T>C	uc001opv.3	+	4	326	c.120T>C	c.(118-120)GGT>GGC	p.G40G	CTTN_uc001opu.2_Silent_p.G40G|CTTN_uc001opw.3_Silent_p.G40G	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	40						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			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)		AAAGATGGGGTGCCAAGACGG	0.572													C	70253656	T	C	70253656	2	2	280	1	0	0	0	0	0	0	0	1	4044	1683	59	3		3	CTTN	11	70253656	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2983522	70253656	64752860	512	144593											
RNF169	254225	broad.mit.edu	37	chr11	74546898	74546898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgcaacctaaacagaaGcctgcagaagcagacttctt	7	13	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:74546898G>A	uc001ovl.3	+	6	1263	c.1250G>A	c.(1249-1251)AGC>AAC	p.S417N	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	417							zinc ion binding			ovary(1)	1						CTAAACAGAAGCCTGCAGAAG	0.498													A	74546898	G	A	74546898	3	1	280	1	0	0	0	0	1	0	0	0	13460	971	34	2	1272	2	RNF169	11	74546898	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4293242	74546898	60459618	513	144594											
NEU3	10825	broad.mit.edu	37	chr11	74716711	74716711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattggctcagagctgaAgcactgggccacatttgctg	13	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:74716711A>G	uc001ovw.2	+	3	716	c.560A>G	c.(559-561)AAG>AGG	p.K187R	NEU3_uc001ovv.2_Missense_Mutation_p.K177R|NEU3_uc010rrl.1_Missense_Mutation_p.K78R	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	187										ovary(2)	2						TCAGAGCTGAAGCACTGGGCC	0.552													G	74716711	A	G	74716711	3	3	280	1	0	0	0	0	1	0	0	0	10343	72	3	3	570	3	NEU3	11	74716711	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	169813	74716711	60289805	514	144595											
POU2AF1	5450	broad.mit.edu	37	chr11	111229625	111229625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccgggccggggctgggGcttgctccggagctgtggct	20	11	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:111229625G>A	uc001plg.3	-	2	290	c.35C>T	c.(34-36)GCC>GTC	p.A12V		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	12					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CGGGGCTGGGGCTTGCTCCGG	0.632			T	BCL6	NHL								A	111229625	G	A	111229625	3	1	280	1	0	0	0	0	1	0	0	0	12270	1203	42	2	751	2	POU2AF1	11	111229625	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	36512914	111229625	23776891	515	144596											
ZW10	9183	broad.mit.edu	37	chr11	113630950	113630950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttttgatggtgggaacttCcatacaatcagcttctgcca	8	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:113630950C>A	uc001poe.2	-	5	598	c.561G>T	c.(559-561)TGG>TGT	p.W187C	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	187	Interaction with RINT1.				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)|skin(1)	2		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)		GTGGGAACTTCCATACAATCA	0.398													A	113630950	C	A	113630950	3	1	280	1	0	0	0	0	1	0	0	0	18244	856	30	5	1826	5	ZW10	11	113630950	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2401325	113630950	21375566	516	144597											
FAM55D	54827	broad.mit.edu	37	chr11	114453402	114453402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagcacctgccatcagCgctggggaagacatcctggc	12	14	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:114453402C>T	uc001ppc.2	-	3	619	c.438G>A	c.(436-438)GCG>GCA	p.A146A	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	146						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CTGCCATCAGCGCTGGGGAAG	0.592													T	114453402	C	T	114453402	2	4	280	1	0	0	0	0	0	0	0	1	5587	755	27	1		1	FAM55D	11	114453402	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	822452	114453402	20553114	517	144598											
DSCAML1	57453	broad.mit.edu	37	chr11	117374715	117374715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaggggcacagggtggTactgctgggggttcccgctc	18	10	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:117374715T>C	uc001prh.1	-	11	2386	c.2384A>G	c.(2383-2385)TAC>TGC	p.Y795C		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	735	Extracellular (Potential).|Ig-like C2-type 8.				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		CACAGGGTGGTACTGCTGGGG	0.632													C	117374715	T	C	117374715	3	2	280	1	0	0	0	0	1	0	0	0	4769	1638	57	3	4049	3	DSCAML1	11	117374715	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2921313	117374715	17631801	518	144599											
MLL	4297	broad.mit.edu	37	chr11	118371815	118371815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatatcaacagcactgttgAacatgatgaaaacaggacca	9	8	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:118371815A>G	uc001pta.2	+	25	6286	c.6263A>G	c.(6262-6264)GAA>GGA	p.E2088G	MLL_uc001ptb.2_Missense_Mutation_p.E2091G	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2088					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGCACTGTTGAACATGATGAA	0.408			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								G	118371815	A	G	118371815	3	3	280	1	0	0	0	0	1	0	0	0	9620	246	9	3	6361	3	MLL	11	118371815	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	997100	118371815	16634701	519	144600											
BCL9L	283149	broad.mit.edu	37	chr11	118769523	118769523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgagagggagtctgctcCgccatcatgttctgcaggtt	14	11	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:118769523C>T	uc001pug.2	-	8	5066	c.4101G>A	c.(4099-4101)GCG>GCA	p.A1367A	BCL9L_uc009zal.2_Silent_p.A1362A	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1367	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			ovary(1)|pancreas(1)	2	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)		GAGTCTGCTCCGCCATCATGT	0.622													T	118769523	C	T	118769523	2	4	280	1	0	0	0	0	0	0	0	1	1382	639	23	1		1	BCL9L	11	118769523	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	397708	118769523	16236993	520	144601											
BCL9L	283149	broad.mit.edu	37	chr11	118779232	118779232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgagattgggccccGccattccctgtcttgccatg	12	13	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:118779232G>A	uc001pug.2	-	2	1124	c.159C>T	c.(157-159)GGC>GGT	p.G53G	BCL9L_uc009zal.2_Silent_p.G48G	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	53					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			ovary(1)|pancreas(1)	2	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)		ATTGGGCCCCGCCATTCCCTG	0.632													A	118779232	G	A	118779232	2	1	280	1	0	0	0	0	0	0	0	1	1382	1074	38	1		1	BCL9L	11	118779232	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	9709	118779232	16227284	521	144602											
ABCG4	64137	broad.mit.edu	37	chr11	119031359	119031359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggagctcctatctctccTatgtcaggtcagtacccctg	8	13	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:119031359T>C	uc001pvs.2	+	14	2044	c.1708T>C	c.(1708-1710)TAT>CAT	p.Y570H	ABCG4_uc009zar.2_Missense_Mutation_p.Y570H	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	570	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	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)		CTATCTCTCCTATGTCAGGTC	0.587													C	119031359	T	C	119031359	3	2	280	1	0	0	0	0	1	0	0	0	70	1522	53	3	1758	3	ABCG4	11	119031359	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	252127	119031359	15975157	522	144603											
CCDC153	283152	broad.mit.edu	37	chr11	119061043	119061044	+	Frame_Shift_Ins	INS	-	-	G													tggtggcctcaaagatccagINSggggggtgagtccaaactgg							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:119061042_119061043A>AG	uc010rze.2	-	6	813_814	c.599_600T>CT	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													G	119061044	-	G	119061043	7	5	280	1	0	1	1	0	0	0	0	0	2787	1000	35	0	37	0	CCDC153	11	119061043	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	29684	119061043	15945473	523	144604											
TECTA	7007	broad.mit.edu	37	chr11	120983879	120983879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacggggacggcgagtggCggcgaccccctgacaggtct	16	14	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:120983879C>T	uc010rzo.1	+	4	585	c.585C>T	c.(583-585)GGC>GGT	p.G195G		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	195	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CGGCGAGTGGCGGCGACCCCC	0.577											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120983879	C	T	120983879	2	4	280	1	0	0	0	0	0	0	0	1	15744	755	27	1		1	TECTA	11	120983879	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1922836	120983879	14022637	524	144605											
TECTA	7007	broad.mit.edu	37	chr11	120998992	120998992	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgcttggctgcggggacTtcggatcctggtggccgacc	15	13	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:120998992T>A	uc010rzo.1	+	8	2306	c.2306T>A	c.(2305-2307)CTT>CAT	p.L769H		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	769	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CTGCGGGGACTTCGGATCCTG	0.582													A	120998992	T	A	120998992	3	1	280	1	0	0	0	0	1	0	0	0	15744	1609	56	5	2336	5	TECTA	11	120998992	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	15113	120998992	14007524	525	144606											
C11orf63	79864	broad.mit.edu	37	chr11	122756782	122756782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagcccgacagcttagaCgaggaggaaagccctcgatg	14	10	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:122756782C>T	uc001pym.2	+	2	522	c.225C>T	c.(223-225)GAC>GAT	p.D75D	C11orf63_uc001pyl.1_Silent_p.D75D	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	75										ovary(3)	3		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)		ACAGCTTAGACGAGGAGGAAA	0.532													T	122756782	C	T	122756782	2	4	280	1	0	0	0	0	0	0	0	1	1654	535	19	1		1	C11orf63	11	122756782	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1757790	122756782	12249734	526	144607											
C11orf63	79864	broad.mit.edu	37	chr11	122774668	122774668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaaatattcagacctccGctatgacccgaactggaaga	8	11	1	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:122774668G>A	uc001pym.2	+	3	677	c.380G>A	c.(379-381)CGC>CAC	p.R127H	C11orf63_uc001pyl.1_Missense_Mutation_p.R127H	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	127										ovary(3)	3		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)		TCAGACCTCCGCTATGACCCG	0.458													A	122774668	G	A	122774668	3	1	280	1	0	0	0	0	1	0	0	0	1654	1087	38	1	386	1	C11orf63	11	122774668	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	17886	122774668	12231848	527	144608											
CDON	50937	broad.mit.edu	37	chr11	125851195	125851195	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgttcatatctgatcCttggtagagatatcctggtg	10	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:125851195C>A	uc009zbw.2	-	17	3153	c.3025G>T	c.(3025-3027)GGA>TGA	p.G1009*	CDON_uc001qdb.3_Nonsense_Mutation_p.G386*|CDON_uc001qdc.3_Nonsense_Mutation_p.G1009*	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	1009	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	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)		ATATCTGATCCTTGGTAGAGA	0.338													A	125851195	C	A	125851195	4	1	280	1	0	0	0	0	0	1	0	0	3170	690	24	5	785	5	CDON	11	125851195	Nonsense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3076527	125851195	9155321	528	144609											
SRPR	6734	broad.mit.edu	37	chr11	126136744	126136744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggaaagttctactccGttctcaggacccactggaag	9	11	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:126136744G>A	uc001qdh.2	-	5	651	c.600C>T	c.(598-600)AAC>AAT	p.N200N	SRPR_uc010sbm.1_Silent_p.N172N|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	200					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GTTCTACTCCGTTCTCAGGAC	0.507													A	126136744	G	A	126136744	2	1	280	1	0	0	0	0	0	0	0	1	15161	1136	40	1		1	SRPR	11	126136744	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	285549	126136744	8869772	529	144610											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278372	126278372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccactggattgagaccaTcctgagtgataagaagcggg	12	9	0	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:126278372T>C	uc001qds.2	+	8	827	c.608T>C	c.(607-609)ATC>ACC	p.I203T	ST3GAL4_uc001qdt.2_Missense_Mutation_p.I199T|ST3GAL4_uc009zcc.2_Missense_Mutation_p.I39T|ST3GAL4_uc009zcd.2_Missense_Mutation_p.I192T|ST3GAL4_uc001qdu.2_Missense_Mutation_p.I199T|ST3GAL4_uc001qdv.2_Missense_Mutation_p.I203T|ST3GAL4_uc009zce.2_Missense_Mutation_p.I199T|ST3GAL4_uc001qdw.2_Missense_Mutation_p.I192T|ST3GAL4_uc001qdx.1_Missense_Mutation_p.I160T|ST3GAL4_uc001qdy.2_Missense_Mutation_p.I39T|ST3GAL4_uc001qdz.2_Missense_Mutation_p.I39T	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	203	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ATTGAGACCATCCTGAGTGAT	0.572													C	126278372	T	C	126278372	3	2	280	1	0	0	0	0	1	0	0	0	15216	1435	50	3	622	3	ST3GAL4	11	126278372	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	141628	126278372	8728144	530	144611											
TP53AIP1	63970	broad.mit.edu	37	chr11	128807638	128807638	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagaggttctggtctccccTgcccaggccctgcctcctgg	12	17	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr11:128807638T>G	uc001qey.2	-	2	286	c.76A>C	c.(76-78)AGG>CGG	p.R26R	TP53AIP1_uc001qex.2_Silent_p.R26R|TP53AIP1_uc009zcm.1_RNA			Q9HCN2	TPIP1_HUMAN	RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;	26					apoptosis	mitochondrion				lung(1)	1						TGGTCTCCCCTGCCCAGGCCC	0.602													G	128807638	T	G	128807638	2	3	280	1	0	0	0	0	0	0	0	1	16379	1579	55	5		5	TP53AIP1	11	128807638	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2529266	128807638	6198878	531	144612											
SLC6A13	6540	broad.mit.edu	37	chr12	333661	333661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcccgcgggtaagcgAtgaaagccaggccagggcct	14	14	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:333661A>G	uc001qic.1	-	10	1132	c.1079T>C	c.(1078-1080)ATC>ACC	p.I360T	SLC6A13_uc009zdj.1_Missense_Mutation_p.I350T|SLC6A13_uc010sdl.1_Missense_Mutation_p.I268T	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	360					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	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)			CGGGTAAGCGATGAAAGCCAG	0.627													G	333661	A	G	333661	3	3	280	1	0	0	0	0	1	0	0	0	14676	333	12	3	753	3	SLC6A13	12	333661	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		333661	133518234	532	144613											
ENO2	2026	broad.mit.edu	37	chr12	7031296	7031296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgaggacacattcattgCtgacctggtggtggggctgt	15	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:7031296C>T	uc001qru.1	+	10	1367	c.1145C>T	c.(1144-1146)GCT>GTT	p.A382V	ENO2_uc009zfi.1_Missense_Mutation_p.A382V|ENO2_uc010sfq.1_Missense_Mutation_p.A339V|ENO2_uc001qrv.1_Missense_Mutation_p.A382V|ATN1_uc001qrw.1_5'Flank	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	382					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						ACATTCATTGCTGACCTGGTG	0.567													T	7031296	C	T	7031296	3	4	280	1	0	0	0	0	1	0	0	0	5122	797	28	2	1179	2	ENO2	12	7031296	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	6697635	7031296	126820599	533	144614											
RIMKLB	57494	broad.mit.edu	37	chr12	8904616	8904616	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggagttcccaatggtagTaaagaatacgcggggtcaca	12	8	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:8904616T>G	uc001quu.2	+	4	721	c.470T>G	c.(469-471)GTA>GGA	p.V157G	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.V157G|RIMKLB_uc010sgl.1_Missense_Mutation_p.V157G|RIMKLB_uc001quw.2_Missense_Mutation_p.V157G	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	157	ATP-grasp.|ATP (By similarity).				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CCAATGGTAGTAAAGAATACG	0.363													G	8904616	T	G	8904616	3	3	280	1	0	0	0	0	1	0	0	0	13366	1638	57	5	480	5	RIMKLB	12	8904616	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1873320	8904616	124947279	534	144615											
STYK1	55359	broad.mit.edu	37	chr12	10786645	10786645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgataaaaagccacaggAtgaccccaagaaggatgagg	11	9	1	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:10786645A>G	uc001qys.2	-	4	652	c.131T>C	c.(130-132)ATC>ACC	p.I44T		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	44	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						AAGCCACAGGATGACCCCAAG	0.473										HNSCC(73;0.22)			G	10786645	A	G	10786645	3	3	280	1	0	0	0	0	1	0	0	0	15358	333	12	3	1169	3	STYK1	12	10786645	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1882029	10786645	123065250	535	144616											
PDE6H	5149	broad.mit.edu	37	chr12	15130994	15130994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcaaaccagggtccTaccaccccacgcaaaggccc	7	19	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:15130994T>C	uc001rcr.2	+	2	132	c.48T>C	c.(46-48)CCT>CCC	p.P16P		NM_006205	NP_006196	Q13956	CNCG_HUMAN	phosphodiesterase 6H	16					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			ovary(1)|skin(1)	2						ACCAGGGTCCTACCACCCCAC	0.517													C	15130994	T	C	15130994	2	2	280	1	0	0	0	0	0	0	0	1	11650	1509	53	3		3	PDE6H	12	15130994	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4344349	15130994	118720901	536	144617											
PLEKHA5	54477	broad.mit.edu	37	chr12	19410381	19410381	+	Frame_Shift_Del	DEL	A	A	-													atttagacttcacgagcttcAaaaaaagttcataattttgg							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:19410380_19410380CA>C	uc001reb.3	+	5	554	c.446_446CA>C	c.(445-447)tcafs	p.S149fs	PLEKHA5_uc010sie.2_Frame_Shift_Del_p.S149fs|PLEKHA5_uc001rea.3_Frame_Shift_Del_p.S149fs|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Frame_Shift_Del_p.S41fs|PLEKHA5_uc010sih.1_Frame_Shift_Del_p.S41fs|PLEKHA5_uc021qvy.1_Frame_Shift_Del_p.S41fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	149							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)					TCACGAGCTTCAAAAAAAGTT	0.323													-	19410381	A	-	19410381	7	5	280	1	0	1	0	1	0	0	0	0	12059	117	5	0	469	0	PLEKHA5	12	19410381	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	4279387	19410381	114441514	537	144618											
SOX5	6660	broad.mit.edu	37	chr12	23999114	23999114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatgaagacataactttaTtgccatcaacttcctgaaag	5	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:23999114T>C	uc001rfw.2	-	3	386	c.284A>G	c.(283-285)AAT>AGT	p.N95S	SOX5_uc001rfx.2_Missense_Mutation_p.N82S|SOX5_uc001rfy.2_Missense_Mutation_p.N82S|SOX5_uc010siv.1_Missense_Mutation_p.N82S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.N47S|SOX5_uc001rga.2_Missense_Mutation_p.N60S	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	95					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						CATAACTTTATTGCCATCAAC	0.418													C	23999114	T	C	23999114	3	2	280	1	0	0	0	0	1	0	0	0	14954	1493	52	3	2069	3	SOX5	12	23999114	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4588733	23999114	109852781	538	144619											
PPFIBP1	8496	broad.mit.edu	37	chr12	27834507	27834507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgccatttgccaagtggAccaaggagcaggtttgcaat	11	8	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:27834507A>G	uc001ric.1	+	21	2319	c.1942A>G	c.(1942-1944)ACC>GCC	p.T648A	PPFIBP1_uc010sjr.1_Missense_Mutation_p.T479A|PPFIBP1_uc001rib.1_Missense_Mutation_p.T642A|PPFIBP1_uc001ria.2_Missense_Mutation_p.T617A|PPFIBP1_uc001rid.1_Missense_Mutation_p.T495A|PPFIBP1_uc001rif.1_Missense_Mutation_p.T155A	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	648	SAM 1.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					TGCCAAGTGGACCAAGGAGCA	0.448													G	27834507	A	G	27834507	3	3	280	1	0	0	0	0	1	0	0	0	12313	275	10	3	2044	3	PPFIBP1	12	27834507	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3835393	27834507	106017388	539	144620											
CNTN1	1272	broad.mit.edu	37	chr12	41327326	41327326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtatatgcattgatggGccaaaatgtgaccttagaat	11	5	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:41327326G>A	uc001rmm.1	+	8	880	c.767G>A	c.(766-768)GGC>GAC	p.G256D	CNTN1_uc009zjy.1_Missense_Mutation_p.G256D|CNTN1_uc001rmn.1_Missense_Mutation_p.G245D|CNTN1_uc001rmo.2_Missense_Mutation_p.G256D	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	256	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	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)				GCATTGATGGGCCAAAATGTG	0.284													A	41327326	G	A	41327326	3	1	280	1	0	0	0	0	1	0	0	0	3640	1203	42	2	793	2	CNTN1	12	41327326	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	13492819	41327326	92524569	540	144621											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858731	42858731	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caattttcgagaaagggtgtCatcagcattgcctgagaggc	12	8	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:42858731C>T	uc010skv.1	-	7	1392	c.1105G>A	c.(1105-1107)GAC>AAC	p.D369N	PRICKLE1_uc001rnl.2_Missense_Mutation_p.D369N|PRICKLE1_uc010skw.1_Missense_Mutation_p.D369N|PRICKLE1_uc001rnm.2_Missense_Mutation_p.D369N	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	369					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			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAAGGGTGTCATCAGCATTG	0.483													T	42858731	C	T	42858731	3	4	280	1	0	0	0	0	1	0	0	0	12486	826	29	4	1398	4	PRICKLE1	12	42858731	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1531405	42858731	90993164	541	144622											
COL2A1	1280	broad.mit.edu	37	chr12	48393797	48393797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtcttcacagattatgTcgtcgcagaggacagtccca	9	12	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:48393797T>C	uc001rqu.2	-	2	378	c.197A>G	c.(196-198)GAC>GGC	p.D66G	COL2A1_uc001rqv.2_Intron	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	66	VWFC.				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			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACAGATTATGTCGTCGCAGAG	0.567													C	48393797	T	C	48393797	3	2	280	1	0	0	0	0	1	0	0	0	3687	1667	58	3	4478	3	COL2A1	12	48393797	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	5535066	48393797	85458098	542	144623											
PFKM	5213	broad.mit.edu	37	chr12	48534510	48534510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcctgtatagagtggTtcgcacacagtggctgtgat	11	10	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:48534510T>C	uc001rrc.2	+	14	1367	c.1197T>C	c.(1195-1197)GGT>GGC	p.G399G	PFKM_uc001rra.1_Silent_p.G84G|PFKM_uc001rrb.1_Silent_p.G470G|PFKM_uc001rrd.2_Silent_p.G84G|PFKM_uc001rre.1_Silent_p.G399G|PFKM_uc001rrg.1_Silent_p.G368G	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	399					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			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						TATAGAGTGGTTCGCACACAG	0.562													C	48534510	T	C	48534510	2	2	280	1	0	0	0	0	0	0	0	1	11765	1712	60	3		3	PFKM	12	48534510	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	140713	48534510	85317385	543	144624											
PRKAG1	5571	broad.mit.edu	37	chr12	49406895	49406895	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctatctgaagaaatgaccTggagagataagaaaacagat	10	5	1	6			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:49406895T>C	uc001rsy.2	-	2	79	c.10_splice	c.e2-1	p.V4_splice	uc001rsw.2_Intron|PRKAG1_uc010smd.1_Splice_Site|PRKAG1_uc001rsx.2_Splice_Site|PRKAG1_uc001rsz.2_Splice_Site_p.V4_splice|PRKAG1_uc009zlb.2_Splice_Site|PRKAG1_uc010sme.1_Splice_Site_p.V4_splice	NM_002733	NP_002724	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic						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			kidney(1)	1						AGAAATGACCTGGAGAGATAA	0.418													C	49406895	T	C	49406895	5	2	280	1	0	0	0	0	0	0	1	0	12500	1594	55	3	1031	3	PRKAG1	12	49406895	Splice_Site	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	872385	49406895	84445000	544	144625											
PRPH	5630	broad.mit.edu	37	chr12	49690007	49690007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgcggagcacaacctcGtgctcttccgcaaggtgagt	13	12	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:49690007G>A	uc001rtu.2	+	2	667	c.592G>A	c.(592-594)GTG>ATG	p.V198M		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	198	Coil 1B.|Rod.						structural molecule activity				0						GCACAACCTCGTGCTCTTCCG	0.677													A	49690007	G	A	49690007	3	1	280	1	0	0	0	0	1	0	0	0	12576	1145	40	1	598	1	PRPH	12	49690007	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	283112	49690007	84161888	545	144626											
LIMA1	51474	broad.mit.edu	37	chr12	50575791	50575791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcttctgacattccacGcaggtctctcttgcaggtgc	9	13	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:50575791G>A	uc001rwj.3	-	10	1344	c.1170C>T	c.(1168-1170)TGC>TGT	p.C390C	LIMA1_uc001rwg.3_Silent_p.C88C|LIMA1_uc001rwh.3_Silent_p.C229C|LIMA1_uc001rwi.3_Silent_p.C231C|LIMA1_uc001rwk.3_Silent_p.C391C|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	390	LIM zinc-binding.				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			ovary(1)	1						GACATTCCACGCAGGTCTCTC	0.478													A	50575791	G	A	50575791	2	1	280	1	0	0	0	0	0	0	0	1	8796	1079	38	1		1	LIMA1	12	50575791	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	885784	50575791	83276104	546	144627											
SCN8A	6334	broad.mit.edu	37	chr12	52200910	52200910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatccaatccttccaaAgtgtcttacgagccaatcac	7	13	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:52200910A>G	uc001ryw.2	+	27	5818	c.5640A>G	c.(5638-5640)AAA>AAG	p.K1880K	uc001rzb.1_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1880					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATCCTTCCAAAGTGTCTTACG	0.582													G	52200910	A	G	52200910	2	3	280	1	0	0	0	0	0	0	0	1	13924	69	3	3		3	SCN8A	12	52200910	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1625119	52200910	81650985	547	144628											
KRT2	3849	broad.mit.edu	37	chr12	53040639	53040639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgccaagtcctccttggCctgctgcagggcctcctcca	10	19	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:53040639C>A	uc001sat.2	-	7	1387	c.1354G>T	c.(1354-1356)GCC>TCC	p.A452S		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	452	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCTCCTTGGCCTGCTGCAGG	0.597													A	53040639	C	A	53040639	3	1	280	1	0	0	0	0	1	0	0	0	8457	739	26	5	577	5	KRT2	12	53040639	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	839729	53040639	80811256	548	144629											
DCD	117159	broad.mit.edu	37	chr12	55042151	55042151	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggatctagggtgtcaAgactgcctctctgggccttt	12	10	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:55042151A>G	uc001sgj.2	-	1	1	c.-61_splice	c.e1-1		DCD_uc009znt.2_Splice_Site|DCD_uc009znu.2_Splice_Site	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein						defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)				TAGGGTGTCAAGACTGCCTCT	0.527													G	55042151	A	G	55042151	5	3	280	1	0	0	0	0	0	0	1	0	4283	87	3	3		3	DCD	12	55042151	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2001512	55042151	78809744	549	144630											
STAT2	6773	broad.mit.edu	37	chr12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G													gcaagctccagggggccttgINSggggggttggagaagaactg							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|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	DNA binding|calcium ion 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						CAGGGGGCCTTGGGGGGGTTGG	0.594													G	56742818	-	G	56742817	7	5	280	1	0	1	1	0	0	0	0	0	15264	1335	47	0	1120	0	STAT2	12	56742817	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	1700666	56742817	77109078	550	144631											
GLS2	27165	broad.mit.edu	37	chr12	56872948	56872948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgggtcaggagcacaAtgttgctgctcacacacctg	11	12	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:56872948A>G	uc001slj.2	-	4	701	c.422T>C	c.(421-423)ATT>ACT	p.I141T	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Intron|GLS2_uc009zot.2_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	141					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGGAGCACAATGTTGCTGCT	0.448													G	56872948	A	G	56872948	3	3	280	1	0	0	0	0	1	0	0	0	6464	101	4	3	1446	3	GLS2	12	56872948	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	130131	56872948	76978947	551	144632											
PTGES3	10728	broad.mit.edu	37	chr12	57064084	57064084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgatcaaaattagacAtgtcttcatctgaatcatct	5	8	6	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:57064084A>G	uc001slu.3	-	5	645	c.350T>C	c.(349-351)ATG>ACG	p.M117T	PTGES3_uc001slw.3_RNA|PTGES3_uc010sqs.1_Missense_Mutation_p.M84T|PTGES3_uc001slv.3_Intron|PTGES3_uc010sqt.1_Missense_Mutation_p.M117T|PTGES3_uc009zox.2_Intron	NM_006601	NP_006592	Q15185	TEBP_HUMAN	prostaglandin-E synthase 3	117	Asp/Glu-rich.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding				0						AAAATTAGACATGTCTTCATC	0.368													G	57064084	A	G	57064084	3	3	280	1	0	0	0	0	1	0	0	0	12748	217	8	3	148	3	PTGES3	12	57064084	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	191136	57064084	76787811	552	144633											
ZBTB39	9880	broad.mit.edu	37	chr12	57396722	57396722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagactgtgcagcggtaCatgagggcccccgagtgtgt	14	12	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:57396722C>T	uc001sml.1	-	2	2066	c.1980G>A	c.(1978-1980)ATG>ATA	p.M660I	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						TGCAGCGGTACATGAGGGCCC	0.557													T	57396722	C	T	57396722	3	4	280	1	0	0	0	0	1	0	0	0	17537	478	17	4	162	4	ZBTB39	12	57396722	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	332638	57396722	76455173	553	144634											
CYP27B1	1594	broad.mit.edu	37	chr12	58158953	58158953	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcgggtggcacttgagcctCcaggcagcccaagcgcgagc	15	14	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:58158953C>A	uc001spz.1	-	4	783	c.631G>T	c.(631-633)GAG>TAG	p.E211*	CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Missense_Mutation_p.G91V|CYP27B1_uc001sqc.1_Missense_Mutation_p.G91V	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	211					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	ACTTGAGCCTCCAGGCAGCCC	0.697											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58158953	C	A	58158953	4	1	280	1	0	0	0	0	0	1	0	0	4159	864	30	5	919	5	CYP27B1	12	58158953	Nonsense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	762231	58158953	75692942	554	144635											
LRIG3	121227	broad.mit.edu	37	chr12	59308081	59308081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtggctcatggaactTgccttgatgaaagataatct	11	6	2	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:59308081T>C	uc001sqr.2	-	2	519	c.273A>G	c.(271-273)GCA>GCG	p.A91A	LRIG3_uc009zqh.2_Silent_p.A31A|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	91	LRR 1.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TCATGGAACTTGCCTTGATGA	0.333													C	59308081	T	C	59308081	2	2	280	1	0	0	0	0	0	0	0	1	8946	1799	63	3		3	LRIG3	12	59308081	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1149128	59308081	74543814	555	144636											
FAM19A2	338811	broad.mit.edu	37	chr12	62148754	62148754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctatcttgttcttattaCagcatctgtggagtgccacc	7	11	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:62148754C>T	uc001sqw.2	-	3	1671	c.158G>A	c.(157-159)TGT>TAT	p.C53Y	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.C53Y|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	53						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GTTCTTATTACAGCATCTGTG	0.478													T	62148754	C	T	62148754	3	4	280	1	0	0	0	0	1	0	0	0	5532	478	17	4	249	4	FAM19A2	12	62148754	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2840673	62148754	71703141	556	144637											
LGR5	8549	broad.mit.edu	37	chr12	71833904	71833904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgtccttgcctgtgcTgctgcagctggcgaccgggg	15	14	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:71833904T>C	uc001swl.2	+	1	92	c.44T>C	c.(43-45)CTG>CCG	p.L15P	TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.L15P|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	15						integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TTGCCTGTGCTGCTGCAGCTG	0.687													C	71833904	T	C	71833904	3	2	280	1	0	0	0	0	1	0	0	0	8757	1580	55	3	46	3	LGR5	12	71833904	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	9685150	71833904	62017991	557	144638											
KCNC2	3747	broad.mit.edu	37	chr12	75436122	75436122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctggcctcggcttgcgTgtaaccagtaatgacaacct	10	11	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:75436122T>G	uc001sxe.2	-	5	2357	c.1813A>C	c.(1813-1815)ACG>CCG	p.T605P	KCNC2_uc009zry.2_Intron|KCNC2_uc001sxf.2_Missense_Mutation_p.T550P	NM_139136	NP_631874	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	Error:Variant_position_missing_in_Q96PR1_after_alignment					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TCGGCTTGCGTGTAACCAGTA	0.418													G	75436122	T	G	75436122	3	3	280	1	0	0	0	0	1	0	0	0	8015	1696	59	5	32	5	KCNC2	12	75436122	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3602218	75436122	58415773	558	144639											
CAPS2	84698	broad.mit.edu	37	chr12	75692521	75692521	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcgtccacactgatgActataaatgcttttttgaat	5	8	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:75692521A>G	uc001sxk.3	-	12	1244	c.1047T>C	c.(1045-1047)AGT>AGC	p.S349S	CAPS2_uc001sxm.3_Silent_p.S117S|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Silent_p.S85S|CAPS2_uc001sxj.3_Silent_p.S260S|CAPS2_uc001sxl.3_Silent_p.S330S	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	349							calcium ion binding			ovary(2)	2						CACACTGATGACTATAAATGC	0.343													G	75692521	A	G	75692521	2	3	280	1	0	0	0	0	0	0	0	1	2638	272	10	3		3	CAPS2	12	75692521	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	256399	75692521	58159374	559	144640											
FAM71C	196472	broad.mit.edu	37	chr12	100042081	100042081	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatactatattcaggtatgcAcccatgtttgagagcgactt	8	8	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:100042081A>T	uc001tgn.2	+	1	551	c.129A>T	c.(127-129)GCA>GCT	p.A43A	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	43											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TCAGGTATGCACCCATGTTTG	0.512													T	100042081	A	T	100042081	2	4	280	1	0	0	0	0	0	0	0	1	5609	146	6	5		5	FAM71C	12	100042081	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	24349560	100042081	33809814	560	144641											
NUAK1	9891	broad.mit.edu	37	chr12	106461727	106461727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatccaccgtatgagtcctCgagcatctaagggacaaggg	12	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:106461727C>T	uc001tlj.1	-	7	2219	c.839G>A	c.(838-840)CGA>CAA	p.R280Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	280	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						TATGAGTCCTCGAGCATCTAA	0.537													T	106461727	C	T	106461727	3	4	280	1	0	0	0	0	1	0	0	0	10712	884	31	1	1150	1	NUAK1	12	106461727	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	6419646	106461727	27390168	561	144642											
POLR3B	55703	broad.mit.edu	37	chr12	106827564	106827564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgactcatgagaagagcAggatatatcaatgaatttgt	9	5	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:106827564A>G	uc001tlp.2	+	16	1917	c.1695A>G	c.(1693-1695)GCA>GCG	p.A565A	POLR3B_uc001tlq.2_Silent_p.A507A	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	565					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			ovary(1)|central_nervous_system(1)	2						TGAGAAGAGCAGGATATATCA	0.378													G	106827564	A	G	106827564	2	3	280	1	0	0	0	0	0	0	0	1	12229	175	7	3		3	POLR3B	12	106827564	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	365837	106827564	27024331	562	144643											
CUX2	23316	broad.mit.edu	37	chr12	111758153	111758153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcaagtccgagatcggCgacgccggctacttcgacca	12	13	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:111758153C>T	uc001tsa.1	+	17	2493	c.2340C>T	c.(2338-2340)GGC>GGT	p.G780G		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	780						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCGAGATCGGCGACGCCGGCT	0.726													T	111758153	C	T	111758153	2	4	280	1	0	0	0	0	0	0	0	1	4065	755	27	1		1	CUX2	12	111758153	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4930589	111758153	22093742	563	144644											
TBX5	6910	broad.mit.edu	37	chr12	114841616	114841616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggccccgagcgcgcTctcgggtttcgaatcgcagg	17	13	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:114841616T>C	uc001tvo.2	-	2	583	c.88A>G	c.(88-90)AGC>GGC	p.S30G	TBX5_uc001tvp.2_Missense_Mutation_p.S30G|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.S30G	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	30				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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCGAGCGCGCTCTCGGGTTTC	0.677													C	114841616	T	C	114841616	3	2	280	1	0	0	0	0	1	0	0	0	15658	1551	54	3	1567	3	TBX5	12	114841616	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3083463	114841616	19010279	564	144645											
ANKLE2	23141	broad.mit.edu	37	chr12	133306511	133306511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtcttggaaacgctaCgtcctatattttgcaaattc	8	9	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr12:133306511C>T	uc001ukx.2	-	11	2304	c.2237G>A	c.(2236-2238)CGT>CAT	p.R746H	ANKLE2_uc009zyw.1_Missense_Mutation_p.R101H	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	746						cytoplasm|integral to membrane|nuclear envelope					0	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)		GGAAACGCTACGTCCTATATT	0.453													T	133306511	C	T	133306511	3	4	280	1	0	0	0	0	1	0	0	0	633	536	19	1	591	1	ANKLE2	12	133306511	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	18464895	133306511	545384	565	144646											
CRYL1	51084	broad.mit.edu	37	chr13	20978274	20978274	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcattacaagaaattcactgGggctgcacttgactcttcaa	8	10	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:20978274G>T	uc001une.2	-	8	1033	c.954C>A	c.(952-954)CCC>CCA	p.P318P	CRYL1_uc001unf.2_Silent_p.P296P|CRYL1_uc001ung.2_Silent_p.P296P	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	318					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		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)		AAATTCACTGGGGCTGCACTT	0.542													T	20978274	G	T	20978274	2	4	280	1	0	0	0	0	0	0	0	1	3920	1219	43	5		5	CRYL1	13	20978274	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08		20978274	94191604	566	144647											
EFHA1	221154	broad.mit.edu	37	chr13	22077129	22077129	+	Frame_Shift_Del	DEL	A	A	-													ctttattttcagtgttagtgAaaaaaagtagccactctgca							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:22077128_22077128GA>G	uc001uof.3	-	8	938	c.870_870TC>C	c.(868-870)ttcfs	p.F290fs	EFHA1_uc010tct.2_Frame_Shift_Del_p.F80fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	290							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		CAGTGTTAGTGAAAAAAAGTA	0.323													-	22077129	A	-	22077129	7	5	280	1	0	1	0	1	0	0	0	0	4943	246	9	0	451	0	EFHA1	13	22077129	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	1098855	22077129	93092749	567	144648											
RNF6	6049	broad.mit.edu	37	chr13	26788301	26788301	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaactaaattgtttggaTttcgcaactgcctgccaccc	6	12	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:26788301T>G	uc001uqo.2	-	5	2009	c.1718A>C	c.(1717-1719)AAT>ACT	p.N573T	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.N573T|RNF6_uc001uqp.2_Missense_Mutation_p.N573T|RNF6_uc001uqq.2_Missense_Mutation_p.N573T|RNF6_uc010tdk.1_Missense_Mutation_p.N217T	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	573					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			ovary(1)|skin(1)	2	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)		ATTGTTTGGATTTCGCAACTG	0.448													G	26788301	T	G	26788301	3	3	280	1	0	0	0	0	1	0	0	0	13498	1493	52	5	343	5	RNF6	13	26788301	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4711172	26788301	88381577	568	144649											
USPL1	10208	broad.mit.edu	37	chr13	31205337	31205337	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctctggaactggcagAccttcccctcaaaatgaagg	10	11	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:31205337A>C	uc001utc.2	+	4	1026	c.594A>C	c.(592-594)AGA>AGC	p.R198S	USPL1_uc001utb.2_Missense_Mutation_p.R17S|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	198					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAACTGGCAGACCTTCCCCTC	0.443													C	31205337	A	C	31205337	3	2	280	1	0	0	0	0	1	0	0	0	17089	272	10	5	604	5	USPL1	13	31205337	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4417036	31205337	83964541	569	144650											
USPL1	10208	broad.mit.edu	37	chr13	31232640	31232640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtataaaccagaaggccaGccacgtatccaagaaagctc	9	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:31232640G>A	uc001utc.2	+	9	2858	c.2426G>A	c.(2425-2427)AGC>AAC	p.S809N	USPL1_uc001utd.2_Missense_Mutation_p.S480N|USPL1_uc001ute.1_Missense_Mutation_p.S480N	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	809					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGAAGGCCAGCCACGTATCC	0.448													A	31232640	G	A	31232640	3	1	280	1	0	0	0	0	1	0	0	0	17089	971	34	2	2456	2	USPL1	13	31232640	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	27303	31232640	83937238	570	144651											
SMAD9	4093	broad.mit.edu	37	chr13	37446863	37446863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtagctggccgtgcacGgggactgggagaacgcgtgg	21	8	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:37446863G>A	uc001uvw.2	-	3	945	c.602C>T	c.(601-603)CCG>CTG	p.P201L	SMAD9_uc001uvx.2_Missense_Mutation_p.P201L|SMAD9_uc010tep.1_Missense_Mutation_p.P31L	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	201					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				0		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)		GGCCGTGCACGGGGACTGGGA	0.587													A	37446863	G	A	37446863	3	1	280	1	0	0	0	0	1	0	0	0	14764	1116	39	1	821	1	SMAD9	13	37446863	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6214223	37446863	77723015	571	144652											
EXOSC8	11340	broad.mit.edu	37	chr13	37581201	37581201	+	Frame_Shift_Del	DEL	A	A	-													tttgctttgctagcggctttAaaaaatggtaagcagcctta							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:37581200_37581200TA>T	uc001uwa.3	+	7	744	c.479_479TA>T	c.(478-480)ttafs	p.L160fs	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	160					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTAGCGGCTTTAAAAAATGGT	0.373													-	37581201	A	-	37581201	7	5	280	1	0	1	0	1	0	0	0	0	5320	359	13	0	510	0	EXOSC8	13	37581201	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	134338	37581201	77588677	572	144653											
PHF11	51131	broad.mit.edu	37	chr13	50095043	50095043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcagactgctttgccagCaacatgctcaattcccgatc	6	13	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:50095043C>T	uc001vdb.2	+	5	809	c.472C>T	c.(472-474)CAA>TAA	p.Q158*	PHF11_uc001vdc.2_Nonsense_Mutation_p.Q119*|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	158	PHD-type; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-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;2.38e-09)		GCTTTGCCAGCAACATGCTCA	0.289													T	50095043	C	T	50095043	4	4	280	1	0	0	0	0	0	1	0	0	11822	711	25	2	490	2	PHF11	13	50095043	Nonsense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	12513842	50095043	65074835	573	144654											
THSD1	55901	broad.mit.edu	37	chr13	52952670	52952670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgtctcccccatccgAgaagctcccgcgctgctcgc	11	20	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:52952670A>G	uc001vgo.2	-	5	1980	c.1435T>C	c.(1435-1437)TCG>CCG	p.S479P	THSD1_uc001vgp.2_Missense_Mutation_p.S426P|THSD1_uc010tgz.1_Missense_Mutation_p.S100P|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	479	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		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)		CCCCCATCCGAGAAGCTCCCG	0.652													G	52952670	A	G	52952670	3	3	280	1	0	0	0	0	1	0	0	0	15874	304	11	3	1127	3	THSD1	13	52952670	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2857627	52952670	62217208	574	144655											
EDNRB	1910	broad.mit.edu	37	chr13	78477385	78477385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatatcaaaacctatggctTcagggacagccagaaccaca	7	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:78477385T>G	uc001vko.2	-	3	965	c.707A>C	c.(706-708)GAA>GCA	p.E236A	EDNRB_uc001vkq.1_Missense_Mutation_p.E236A|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.E236A|EDNRB_uc001vkp.1_Missense_Mutation_p.E319A	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	236	Helical; Name=4; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ACCTATGGCTTCAGGGACAGC	0.418													G	78477385	T	G	78477385	3	3	280	1	0	0	0	0	1	0	0	0	4920	1783	62	5	762	5	EDNRB	13	78477385	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	25524715	78477385	36692493	575	144656											
PCCA	5095	broad.mit.edu	37	chr13	100909900	100909900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgggaaaggcatgcGcattgcttgggatgatgaag	18	4	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr13:100909900G>A	uc001voo.2	+	9	727	c.689G>A	c.(688-690)CGC>CAC	p.R230H	PCCA_uc010aga.2_Missense_Mutation_p.R204H|PCCA_uc010tiz.1_Missense_Mutation_p.R230H	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	230	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAGGCATGCGCATTGCTTGG	0.443													A	100909900	G	A	100909900	3	1	280	1	0	0	0	0	1	0	0	0	11504	1087	38	1	723	1	PCCA	13	100909900	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	22432515	100909900	14259978	576	144657											
OR4K14	122740	broad.mit.edu	37	chr14	20483284	20483284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatataaagaaaaaattttgAagatgtcgtgaagtgcagag	10	2	0	5			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:20483284A>G	uc010tky.1	-	1	69	c.69T>C	c.(67-69)CTT>CTC	p.L23L		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAAATTTTGAAGATGTCGTG	0.403													G	20483284	A	G	20483284	2	3	280	1	0	0	0	0	0	0	0	1	11069	233	9	3		3	OR4K14	14	20483284	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		20483284	86866256	577	144658											
CHD8	57680	broad.mit.edu	37	chr14	21896152	21896152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgccttcctcctctggccGaacgctgggcaactcgtcct	9	18	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:21896152G>A	uc001was.1	-	4	734	c.640C>T	c.(640-642)CGG>TGG	p.R214W	CHD8_uc001war.1_Missense_Mutation_p.R110W	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	493					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			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCCTCTGGCCGAACGCTGGGC	0.542													A	21896152	G	A	21896152	3	1	280	1	0	0	0	0	1	0	0	0	3331	1057	37	1	6408	1	CHD8	14	21896152	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1412868	21896152	85453388	578	144659											
MYH6	4624	broad.mit.edu	37	chr14	23874886	23874886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgaaaagcaccgcggGctcgtgcaggaaggtcagca	16	9	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:23874886G>A	uc001wjv.2	-	4	362	c.295C>T	c.(295-297)CCC>TCC	p.P99S	MYH6_uc010akp.1_Missense_Mutation_p.P99S	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	99	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			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCACCGCGGGCTCGTGCAGG	0.587													A	23874886	G	A	23874886	3	1	280	1	0	0	0	0	1	0	0	0	10038	1203	42	2	5668	2	MYH6	14	23874886	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1978734	23874886	83474654	579	144660											
SCFD1	23256	broad.mit.edu	37	chr14	31119854	31119854	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acacttggagctggccaattCaggtattactgttattaaat	8	7	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:31119854C>T	uc001wqm.1	+	9	777	c.753C>T	c.(751-753)TTC>TTT	p.F251F	SCFD1_uc001wqn.1_Silent_p.F184F|SCFD1_uc010tpg.1_Silent_p.F192F|SCFD1_uc010tph.1_Silent_p.F66F|SCFD1_uc010amf.1_Silent_p.F66F|SCFD1_uc010tpi.1_Silent_p.F159F|SCFD1_uc010amd.1_Silent_p.F83F|SCFD1_uc010ame.1_Silent_p.F184F	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	251					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CTGGCCAATTCAGGTATTACT	0.289													T	31119854	C	T	31119854	2	4	280	1	0	0	0	0	0	0	0	1	13889	825	29	4		4	SCFD1	14	31119854	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7244968	31119854	76229686	580	144661											
HEATR5A	25938	broad.mit.edu	37	chr14	31774332	31774332	+	Frame_Shift_Del	DEL	T	T	-													gcacaagtcctccggtgtccTttccctctccaaactctggc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:31774331_31774331CT>C	uc001wrf.4	-	31	5204	c.5019_5019AG>G	c.(5017-5019)aagfs	p.K1673fs	HEATR5A_uc010ami.3_Frame_Shift_Del_p.K1278fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1667							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)		CTCCGGTGTCCTTTCCCTCTC	0.433													-	31774332	T	-	31774332	7	5	280	1	0	1	0	1	0	0	0	0	7031	1609	56	0	1142	0	HEATR5A	14	31774332	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	654478	31774332	75575208	581	144662											
BAZ1A	11177	broad.mit.edu	37	chr14	35264077	35264077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtctagttttcactggtGttggttctggaagttcctga	12	6	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:35264077G>T	uc001wsk.2	-	11	1809	c.1241C>A	c.(1240-1242)ACA>AAA	p.T414K	BAZ1A_uc001wsl.2_Missense_Mutation_p.T414K	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	414					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		TTTCACTGGTGTTGGTTCTGG	0.363													T	35264077	G	T	35264077	3	4	280	1	0	0	0	0	1	0	0	0	1329	1377	48	5	3497	5	BAZ1A	14	35264077	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	3489745	35264077	72085463	582	144663											
KLHL28	54813	broad.mit.edu	37	chr14	45398293	45398293	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgaatccagccacgTatctgagataggatcatatt	9	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:45398293T>G	uc001wvq.2	-	5	1900	c.1654A>C	c.(1654-1656)ACG>CCG	p.T552P	KLHL28_uc001wvr.2_Missense_Mutation_p.T552P	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	552	Kelch 6.									ovary(1)	1						TCCAGCCACGTATCTGAGATA	0.438													G	45398293	T	G	45398293	3	3	280	1	0	0	0	0	1	0	0	0	8382	1638	57	5	65	5	KLHL28	14	45398293	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	10134216	45398293	61951247	583	144664											
DACT1	51339	broad.mit.edu	37	chr14	59113504	59113504	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccctacgcctacgtggcTagcgactccgagtactcggc	11	16	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:59113504T>C	uc001xdw.2	+	4	2327	c.2163T>C	c.(2161-2163)GCT>GCC	p.A721A	DACT1_uc010trv.1_Silent_p.A440A|DACT1_uc001xdx.2_Silent_p.A684A|DACT1_uc010trw.1_Silent_p.A440A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	721					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCTACGTGGCTAGCGACTCCG	0.662													C	59113504	T	C	59113504	2	2	280	1	0	0	0	0	0	0	0	1	4222	1509	53	3		3	DACT1	14	59113504	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	13715211	59113504	48236036	584	144665											
JKAMP	51528	broad.mit.edu	37	chr14	59954418	59954418	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaggacagagaacgaaTgcacagaaatattgtcagcc	10	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:59954418T>A	uc001xei.3	+	3	667	c.165T>A	c.(163-165)AAT>AAA	p.N55K	JKAMP_uc001xef.3_Missense_Mutation_p.N41K|JKAMP_uc001xeh.3_Missense_Mutation_p.N35K|JKAMP_uc001xeg.3_Missense_Mutation_p.N49K|JKAMP_uc010try.1_5'UTR|JKAMP_uc001xej.3_5'UTR	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	56	Lumenal (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						AGAGAACGAATGCACAGAAAT	0.358													A	59954418	T	A	59954418	3	1	280	1	0	0	0	0	1	0	0	0	7949	1461	51	5	133	5	JKAMP	14	59954418	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	840914	59954418	47395122	585	144666											
KCNH5	27133	broad.mit.edu	37	chr14	63483580	63483580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttctgcatgacgtcagCtcgatgatatccagagagtt	10	9	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:63483580C>T	uc001xfx.2	-	2	217	c.166G>A	c.(166-168)GCT>ACT	p.A56T	KCNH5_uc001xfy.2_Missense_Mutation_p.A56T|KCNH5_uc001xfz.1_5'UTR|KCNH5_uc001xga.2_5'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	56	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATGACGTCAGCTCGATGATAT	0.363													T	63483580	C	T	63483580	3	4	280	1	0	0	0	0	1	0	0	0	8035	797	28	2	2874	2	KCNH5	14	63483580	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3529162	63483580	43865960	586	144667											
ZBTB1	22890	broad.mit.edu	37	chr14	64988534	64988534	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggcaatgaactacctAcagctatacaatgttcctga	7	9	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:64988534A>G	uc001xhh.3	+	4	743	c.312A>G	c.(310-312)CTA>CTG	p.L104L	ZBTB1_uc010aqg.2_Silent_p.L104L|ZBTB1_uc001xhi.2_Silent_p.L104L	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		TGAACTACCTACAGCTATACA	0.378													G	64988534	A	G	64988534	2	3	280	1	0	0	0	0	0	0	0	1	17519	378	14	3		3	ZBTB1	14	64988534	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1504954	64988534	42361006	587	144668											
RAB15	376267	broad.mit.edu	37	chr14	65419254	65419254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatccgcactttgatgcCgtctacctctatggtcttca	7	13	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:65419254C>A	uc001xhz.2	-	2	241	c.160G>T	c.(160-162)GGC>TGC	p.G54C	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	NM_198686	NP_941959	P59190	RAB15_HUMAN	RAB15, member RAS onocogene family	54					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)	1				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		ACTTTGATGCCGTCTACCTCT	0.453													A	65419254	C	A	65419254	3	1	280	1	0	0	0	0	1	0	0	0	12901	652	23	5	490	5	RAB15	14	65419254	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	430720	65419254	41930286	588	144669											
EXD2	55218	broad.mit.edu	37	chr14	69707665	69707665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcacagccagggtggcCtgcgctccctcatgcagctg	13	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:69707665C>A	uc001xkt.2	+	11	1998	c.1339C>A	c.(1339-1341)CTG>ATG	p.L447M	EXD2_uc001xku.2_Missense_Mutation_p.L317M|EXD2_uc001xkv.2_Missense_Mutation_p.L572M|EXD2_uc001xkw.2_Missense_Mutation_p.L447M|EXD2_uc010aqt.2_Missense_Mutation_p.L572M|EXD2_uc010tte.1_Missense_Mutation_p.L572M|EXD2_uc001xky.2_Missense_Mutation_p.L447M	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	447					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CCAGGGTGGCCTGCGCTCCCT	0.562													A	69707665	C	A	69707665	3	1	280	1	0	0	0	0	1	0	0	0	5298	680	24	5	1365	5	EXD2	14	69707665	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4288411	69707665	37641875	589	144670											
TMEM90A	646658	broad.mit.edu	37	chr14	74874344	74874344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctaggaagagggcccggCgggaggtggtgctggccagg	22	8	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:74874344C>T	uc001xpx.2	-	4	859	c.611G>A	c.(610-612)CGC>CAC	p.R204H		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	204					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		GAGGGCCCGGCGGGAGGTGGT	0.637													T	74874344	C	T	74874344	3	4	280	1	0	0	0	0	1	0	0	0	16215	768	27	1	109	1	TMEM90A	14	74874344	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	5166679	74874344	32475196	590	144671											
ALKBH1	8846	broad.mit.edu	37	chr14	78140225	78140225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatggcagaaaccttctGtactgatgtctcttttttca	7	10	3	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:78140225G>A	uc001xuc.1	-	6	1109	c.1100C>T	c.(1099-1101)ACA>ATA	p.T367I	ALKBH1_uc001xud.1_RNA	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	367					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAAACCTTCTGTACTGATGTC	0.483													A	78140225	G	A	78140225	3	1	280	1	0	0	0	0	1	0	0	0	526	1377	48	4	73	4	ALKBH1	14	78140225	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	3265881	78140225	29209315	591	144672											
C14orf156	81892	broad.mit.edu	37	chr14	78174499	78174499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggcgctgcgtagaagTatcaatcagccggttgcttt	13	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:78174499T>C	uc001xue.3	+	1	75	c.45T>C	c.(43-45)AGT>AGC	p.S15S	ALKBH1_uc001xuc.1_5'Flank|ALKBH1_uc001xud.1_5'Flank	NM_031210	NP_112487	Q9GZT3	SLIRP_HUMAN	SRA stem-loop-interacting RNA-binding protein	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	nucleotide binding|RNA binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0276)		TGCGTAGAAGTATCAATCAGC	0.542													C	78174499	T	C	78174499	2	2	280	1	0	0	0	0	0	0	0	1	1754	1635	57	3		3	C14orf156	14	78174499	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	34274	78174499	29175041	592	144673											
BTBD7	55727	broad.mit.edu	37	chr14	93717898	93717898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacaacactgtggcacgGcattattgaccatgtagagc	11	9	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:93717898G>A	uc001ybo.2	-	8	2179	c.1853C>T	c.(1852-1854)GCC>GTC	p.A618V	BTBD7_uc010aur.2_Missense_Mutation_p.A143V|BTBD7_uc010two.1_Missense_Mutation_p.A438V|BTBD7_uc001ybp.2_Missense_Mutation_p.A267V	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	618										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTGTGGCACGGCATTATTGAC	0.493													A	93717898	G	A	93717898	3	1	280	1	0	0	0	0	1	0	0	0	1546	1203	42	2	1561	2	BTBD7	14	93717898	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	15543399	93717898	13631642	593	144674											
BCL11B	64919	broad.mit.edu	37	chr14	99641679	99641679	+	Frame_Shift_Del	DEL	G	G	-													agctcgctggtgccgggctcGggggagctggcggccgagag							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:99641679delG	uc001yga.2	-	4	1761	c.1494delC	c.(1492-1494)CCCfs	p.P498fs	BCL11B_uc001ygb.2_Frame_Shift_Del_p.P427fs	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	498						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGCCGGGCTCGGGGGAGCTGG	0.721			T	TLX3	T-ALL								-	99641679	G	-	99641679	7	5	280	1	0	1	0	1	0	0	0	0	1364	1103	39	0	1194	0	BCL11B	14	99641679	Frame_Shift_Del	DEL	G	TCGA-HU-A4H4-01A-21D-A25D-08	5923781	99641679	7707861	594	144675											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505767	102505767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatacacttcttgtaccagTactccctccagtttttcctg	5	13	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:102505767T>C	uc001yks.2	+	61	11643	c.11479T>C	c.(11479-11481)TAC>CAC	p.Y3827H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3827					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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTTGTACCAGTACTCCCTCCA	0.542													C	102505767	T	C	102505767	3	2	280	1	0	0	0	0	1	0	0	0	4841	1638	57	3	11721	3	DYNC1H1	14	102505767	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2864088	102505767	4843773	595	144676											
KIF26A	26153	broad.mit.edu	37	chr14	104641626	104641626	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagggtccccgagacgcagAccacttccgctgcagcacct	10	17	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:104641626A>T	uc001yos.3	+	12	2501	c.2501A>T	c.(2500-2502)GAC>GTC	p.D834V		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	834					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			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGAGACGCAGACCACTTCCGC	0.672													T	104641626	A	T	104641626	3	4	280	1	0	0	0	0	1	0	0	0	8294	275	10	5	2547	5	KIF26A	14	104641626	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2135859	104641626	2707914	596	144677											
AHNAK2	113146	broad.mit.edu	37	chr14	105414753	105414753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcggcctccaccttcaaCgcagacacatccgctgaggc	9	17	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr14:105414753C>T	uc010axc.1	-	7	7155	c.7035G>A	c.(7033-7035)GCG>GCA	p.A2345A	AHNAK2_uc001ypx.2_Silent_p.A2245A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2345						nucleus				ovary(1)	1		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)			CCACCTTCAACGCAGACACAT	0.597													T	105414753	C	T	105414753	2	4	280	1	0	0	0	0	0	0	0	1	415	523	19	1		1	AHNAK2	14	105414753	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	773127	105414753	1934787	597	144678											
NDNL2	56160	broad.mit.edu	37	chr15	29561233	29561233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaacgctgtcgcacaaagTcctcagtaatgagtttcttt	9	9	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:29561233T>C	uc001zco.2	-	1	785	c.677A>G	c.(676-678)GAC>GGC	p.D226G	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	226	MAGE.				regulation of growth	cytoplasm|nucleus					0		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)		TCGCACAAAGTCCTCAGTAAT	0.537													C	29561233	T	C	29561233	3	2	280	1	0	0	0	0	1	0	0	0	10248	1667	58	3	241	3	NDNL2	15	29561233	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08		29561233	72970159	598	144679											
TJP1	7082	broad.mit.edu	37	chr15	30019143	30019143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattggataccactgggcaTagttaagacgatcaactgca	9	9	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:30019143T>C	uc001zcr.2	-	17	2628	c.2153A>G	c.(2152-2154)TAT>TGT	p.Y718C	TJP1_uc010azl.2_Missense_Mutation_p.Y706C|TJP1_uc001zcq.2_Missense_Mutation_p.Y722C|TJP1_uc001zcs.2_Missense_Mutation_p.Y718C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	718	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		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)		CCACTGGGCATAGTTAAGACG	0.348													C	30019143	T	C	30019143	3	2	280	1	0	0	0	0	1	0	0	0	15926	1406	49	3	3141	3	TJP1	15	30019143	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	457910	30019143	72512249	599	144680											
AQR	9716	broad.mit.edu	37	chr15	35176884	35176884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtaacatctggcaatgTactacctttatttttcactt	4	10	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:35176884T>C	uc001ziv.2	-	26	3050	c.2869A>G	c.(2869-2871)ACA>GCA	p.T957A		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	957						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		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)		TCTGGCAATGTACTACCTTTA	0.368													C	35176884	T	C	35176884	3	2	280	1	0	0	0	0	1	0	0	0	835	1638	57	3	1628	3	AQR	15	35176884	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	5157741	35176884	67354508	600	144681											
SPRED1	161742	broad.mit.edu	37	chr15	38632046	38632046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatataagaccttctcccTttgaagatctgaatgccaga	6	10	2	5			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:38632046T>C	uc001zka.3	+	5	867	c.532T>C	c.(532-534)TTT>CTT	p.F178L		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	178					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		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)		ACCTTCTCCCTTTGAAGATCT	0.388									Legius_syndrome				C	38632046	T	C	38632046	3	2	280	1	0	0	0	0	1	0	0	0	15091	1609	56	3	550	3	SPRED1	15	38632046	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3455162	38632046	63899346	601	144682											
VPS18	57617	broad.mit.edu	37	chr15	41192972	41192972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgctacatggagttctgCgtgaacgtgctgggggagac	15	9	1	2	rs140514025		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:41192972C>T	uc001zne.2	+	4	2295	c.1956C>T	c.(1954-1956)TGC>TGT	p.C652C		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	652	Clathrin.				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)		TGGAGTTCTGCGTGAACGTGC	0.622													T	41192972	C	T	41192972	2	4	280	1	0	0	0	0	0	0	0	1	17191	776	27	1		1	VPS18	15	41192972	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2560926	41192972	61338420	602	144683											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434265	42434265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccacgttgttcaggaCgttgtatcgactgagggcca	13	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:42434265C>T	uc001zoz.2	-	20	2530	c.2467G>A	c.(2467-2469)GTC>ATC	p.V823I	PLA2G4F_uc010bcq.2_Missense_Mutation_p.V120I|PLA2G4F_uc001zoy.2_Missense_Mutation_p.V455I|PLA2G4F_uc010bcr.2_Missense_Mutation_p.V574I|PLA2G4F_uc001zpa.2_Missense_Mutation_p.V574I|PLA2G4F_uc010bcs.2_Missense_Mutation_p.V610I	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	823	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		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)		TTGTTCAGGACGTTGTATCGA	0.597													T	42434265	C	T	42434265	3	4	280	1	0	0	0	0	1	0	0	0	12006	536	19	1	86	1	PLA2G4F	15	42434265	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1241293	42434265	60097127	603	144684											
DUOX2	50506	broad.mit.edu	37	chr15	45398766	45398766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccttcttcacgctctcTttgagtttcttttgtagctt	6	11	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:45398766T>G	uc010bea.2	-	16	2108	c.1905A>C	c.(1903-1905)AAA>AAC	p.K635N	DUOX2_uc001zun.2_Missense_Mutation_p.K635N	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	635	Cytoplasmic (Potential).				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			ovary(2)|skin(2)|pancreas(1)	5		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)		TCACGCTCTCTTTGAGTTTCT	0.557													G	45398766	T	G	45398766	3	3	280	1	0	0	0	0	1	0	0	0	4801	1606	56	5	2817	5	DUOX2	15	45398766	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2964501	45398766	57132626	604	144685											
NARG2	79664	broad.mit.edu	37	chr15	60740299	60740299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcctgaggagctaggTattccgatgtatcttcaaca	8	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:60740299T>C	uc002agp.2	-	11	2400	c.2165A>G	c.(2164-2166)TAC>TGC	p.Y722C	NARG2_uc002ago.2_Missense_Mutation_p.Y585C|NARG2_uc002agq.3_Intron	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	722						nucleus				ovary(1)|lung(1)	2						AGGAGCTAGGTATTCCGATGT	0.368													C	60740299	T	C	60740299	3	2	280	1	0	0	0	0	1	0	0	0	10169	1638	57	3	807	3	NARG2	15	60740299	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	15341533	60740299	41791093	605	144686											
NEO1	4756	broad.mit.edu	37	chr15	73562761	73562761	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcgaagatcaagtacatgGagtatgacagcccatgggac	13	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:73562761G>A	uc002avm.3	+	18	2965	c.2823G>A	c.(2821-2823)TGG>TGA	p.W941*	NEO1_uc010ukx.1_Nonsense_Mutation_p.W941*|NEO1_uc010uky.1_Nonsense_Mutation_p.W941*|NEO1_uc010ukz.1_Nonsense_Mutation_p.W365*|NEO1_uc002avn.3_Nonsense_Mutation_p.W590*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	941	Extracellular (Potential).|Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						CAAGTACATGGAGTATGACAG	0.433													A	73562761	G	A	73562761	4	1	280	1	0	0	0	0	0	1	0	0	10336	1183	41	4	2893	4	NEO1	15	73562761	Nonsense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	12822462	73562761	28968631	606	144687											
LINGO1	84894	broad.mit.edu	37	chr15	77907220	77907220	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggtcagctggttgccAgagacattgagcacgcgcag	15	9	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:77907220A>G	uc002bct.1	-	2	1081	c.1029T>C	c.(1027-1029)TCT>TCC	p.S343S	LINGO1_uc002bcu.1_Silent_p.S337S	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	343	Extracellular (Potential).|LRR 11.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						GCTGGTTGCCAGAGACATTGA	0.642													G	77907220	A	G	77907220	2	3	280	1	0	0	0	0	0	0	0	1	8814	175	7	3		3	LINGO1	15	77907220	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4344459	77907220	24624172	607	144688											
ADAMTS7	11173	broad.mit.edu	37	chr15	79058532	79058532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacaggggacaaaggggGcagcgtggagctgggtctcg	19	9	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:79058532G>A	uc002bej.3	-	19	3932	c.3721C>T	c.(3721-3723)CCC>TCC	p.P1241S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1241					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GACAAAGGGGGCAGCGTGGAG	0.652													A	79058532	G	A	79058532	3	1	280	1	0	0	0	0	1	0	0	0	271	1203	42	2	1363	2	ADAMTS7	15	79058532	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1151312	79058532	23472860	608	144689											
BTBD1	53339	broad.mit.edu	37	chr15	83710649	83710649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcgaatactgagtgtGtctctctctaaaactgcaca	6	11	3	1	rs144730017		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:83710649G>C	uc002bjn.2	-	4	896	c.693C>G	c.(691-693)GAC>GAG	p.D231E	BTBD1_uc002bjo.2_Missense_Mutation_p.D231E	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1 isoform 1	231						cytoplasmic mRNA processing body|protein complex	protein binding			ovary(1)|central_nervous_system(1)	2				all cancers(203;0.000186)		TACTGAGTGTGTCTCTCTCTA	0.388													C	83710649	G	C	83710649	3	2	280	1	0	0	0	0	1	0	0	0	1537	1368	48	5	775	5	BTBD1	15	83710649	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4652117	83710649	18820743	609	144690											
HDGFRP3	50810	broad.mit.edu	37	chr15	83876145	83876145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcgcccgctttgtactCgcggggccgcggacgcgcca	15	16	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:83876145C>T	uc002bjs.1	-	1	177	c.22G>A	c.(22-24)GAG>AAG	p.E8K		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	8					cell proliferation	nucleus	growth factor activity				0						GCTTTGTACTCGCGGGGCCGC	0.612													T	83876145	C	T	83876145	3	4	280	1	0	0	0	0	1	0	0	0	7021	893	31	1	613	1	HDGFRP3	15	83876145	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	165496	83876145	18655247	610	144691											
AKAP13	11214	broad.mit.edu	37	chr15	86278836	86278836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaagatcttaggagaaCggaatcagatagtggcctaa	12	7	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:86278836C>T	uc002blv.1	+	32	7657	c.7487C>T	c.(7486-7488)ACG>ATG	p.T2496M	AKAP13_uc002blu.1_Missense_Mutation_p.T2500M|AKAP13_uc002blw.1_Missense_Mutation_p.T961M|AKAP13_uc002blx.1_Missense_Mutation_p.T741M	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2496	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			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTTAGGAGAACGGAATCAGAT	0.363													T	86278836	C	T	86278836	3	4	280	1	0	0	0	0	1	0	0	0	449	536	19	1	7679	1	AKAP13	15	86278836	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2402691	86278836	16252556	611	144692											
NTRK3	4916	broad.mit.edu	37	chr15	88680633	88680633	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggcggccactcactcAccacactgactgatgttcat	9	15	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:88680633A>G	uc002bme.1	-	6	784	c.622_splice	c.e6+1	p.D208_splice	NTRK3_uc002bmh.2_Splice_Site_p.D208_splice|NTRK3_uc002bmf.1_Splice_Site_p.D208_splice|NTRK3_uc010upl.1_Splice_Site_p.D110_splice|NTRK3_uc010bnh.1_Splice_Site_p.D208_splice|NTRK3_uc002bmg.2_Splice_Site_p.D208_splice	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCACTCACTCACCACACTGAC	0.597			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			G	88680633	A	G	88680633	5	3	280	1	0	0	0	0	0	0	1	0	10708	173	6	3	2213	3	NTRK3	15	88680633	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2401797	88680633	13850759	612	144693											
DET1	55070	broad.mit.edu	37	chr15	89074729	89074729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaagcaataaagtagcGtccatcaggtgagaatttac	9	6	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:89074729G>A	uc002bmr.2	-	2	360	c.208C>T	c.(208-210)CGC>TGC	p.R70C	DET1_uc002bmp.3_Intron|DET1_uc010bnk.2_Intron|DET1_uc002bmq.2_Missense_Mutation_p.R81C	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	70						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATAAAGTAGCGTCCATCAGGT	0.473													A	89074729	G	A	89074729	3	1	280	1	0	0	0	0	1	0	0	0	4450	1145	40	1	1460	1	DET1	15	89074729	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	394096	89074729	13456663	613	144694											
FANCI	55215	broad.mit.edu	37	chr15	89826401	89826401	+	Frame_Shift_Del	DEL	T	T	-													gaaaatctgcagttgctgggTttttgctgctcctgaagaac							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:89826400_89826400GT>G	uc010bnp.1	+	16	1707	c.1617_1617GT>G	c.(1615-1617)gggfs	p.G539fs	FANCI_uc002bnm.1_Frame_Shift_Del_p.G539fs|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Frame_Shift_Del_p.G360fs|FANCI_uc002bnq.1_5'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	539					DNA repair|cell cycle	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)					CAGTTGCTGGGTTTTTGCTGC	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				-	89826401	T	-	89826401	7	5	280	1	0	1	0	1	0	0	0	0	5669	1725	60	0	1680	0	FANCI	15	89826401	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	751672	89826401	12704991	614	144695											
RHCG	51458	broad.mit.edu	37	chr15	90039599	90039599	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcgagacttacttgggtaGcgatagtagaattcgttctc	12	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:90039599G>T	uc002bnz.2	-	1	201	c.177C>A	c.(175-177)CGC>CGA	p.R59R	RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_5'UTR	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	59	Extracellular (Potential).				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			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TACTTGGGTAGCGATAGTAGA	0.637													T	90039599	G	T	90039599	2	4	280	1	0	0	0	0	0	0	0	1	13326	958	34	5		5	RHCG	15	90039599	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	213198	90039599	12491793	615	144696											
MAN2A2	4122	broad.mit.edu	37	chr15	91462922	91462922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccttcagccaacctccTtgacgttactgtaccctctg	5	15	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:91462922T>G	uc010bnz.2	+	23	3473	c.3358T>G	c.(3358-3360)TTG>GTG	p.L1120V	MAN2A2_uc002bqc.2_Missense_Mutation_p.L1120V|MAN2A2_uc010uql.1_Missense_Mutation_p.L782V|MAN2A2_uc010uqm.1_Missense_Mutation_p.L699V|MAN2A2_uc010uqn.1_RNA	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1120					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			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCAACCTCCTTGACGTTACT	0.577													G	91462922	T	G	91462922	3	3	280	1	0	0	0	0	1	0	0	0	9215	1606	56	5	3444	5	MAN2A2	15	91462922	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1423323	91462922	11068470	616	144697											
TARSL2	123283	broad.mit.edu	37	chr15	102211872	102211872	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcatgtggtcgactcActttagggccataaaatgct	10	8	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr15:102211872A>G	uc002bxm.2	-	14	1921	c.1866_splice	c.e14+1	p.K622_splice	TARSL2_uc002bxl.2_Splice_Site_p.K167_splice|TARSL2_uc010usi.1_Splice_Site	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2						threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	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)			TGGTCGACTCACTTTAGGGCC	0.343													G	102211872	A	G	102211872	5	3	280	1	0	0	0	0	0	0	1	0	15558	173	6	3	564	3	TARSL2	15	102211872	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	10748950	102211872	319520	617	144698											
SOX8	30812	broad.mit.edu	37	chr16	1035326	1035326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcctggccctgccgccCgcccacagccccaccagtca	9	22	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:1035326C>T	uc002ckn.2	+	3	1396	c.1281C>T	c.(1279-1281)CCC>CCT	p.P427P		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	427					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				CCCTGCCGCCCGCCCACAGCC	0.736													T	1035326	C	T	1035326	2	4	280	1	0	0	0	0	0	0	0	1	14957	639	23	1		1	SOX8	16	1035326	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08		1035326	89319427	618	144699											
PRSS22	64063	broad.mit.edu	37	chr16	2903195	2903195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgcacgatcttctccaCccaggagcggtgcgcagaga	11	15	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:2903195C>T	uc002cry.1	-	6	919	c.853G>A	c.(853-855)GTG>ATG	p.V285M	PRSS22_uc002crz.1_Missense_Mutation_p.V175M	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	285	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						ATCTTCTCCACCCAGGAGCGG	0.736													T	2903195	C	T	2903195	3	4	280	1	0	0	0	0	1	0	0	0	12619	507	18	4	104	4	PRSS22	16	2903195	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1867869	2903195	87451558	619	144700											
DNAJA3	9093	broad.mit.edu	37	chr16	4492299	4492299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgacattcaatcaagctGcaaagggggtcaacaaggag	12	7	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:4492299G>A	uc002cwk.2	+	5	686	c.661G>A	c.(661-663)GCA>ACA	p.A221T	DNAJA3_uc002cwl.2_Missense_Mutation_p.A221T|DNAJA3_uc010uxk.1_Missense_Mutation_p.A68T	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	221					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						CAATCAAGCTGCAAAGGGGGT	0.517													A	4492299	G	A	4492299	3	1	280	1	0	0	0	0	1	0	0	0	4613	1319	46	2	679	2	DNAJA3	16	4492299	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1589104	4492299	85862454	620	144701											
MGRN1	23295	broad.mit.edu	37	chr16	4723651	4723651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaacaactgccccatctgCcggctgcgtgagttccccgg	11	17	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:4723651C>T	uc002cwz.2	+	10	1084	c.948C>T	c.(946-948)TGC>TGT	p.C316C	MGRN1_uc002cxa.2_Silent_p.C316C|MGRN1_uc010btx.2_Silent_p.C317C|MGRN1_uc010btw.2_Silent_p.C317C|MGRN1_uc002cxb.2_Silent_p.C355C|MGRN1_uc010uxo.1_Silent_p.C316C|MGRN1_uc010uxp.1_Silent_p.C316C|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	316	RING-type.				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|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						GCCCCATCTGCCGGCTGCGTG	0.662													T	4723651	C	T	4723651	2	4	280	1	0	0	0	0	0	0	0	1	9559	747	26	2		2	MGRN1	16	4723651	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	231352	4723651	85631102	621	144702											
C16orf71	146562	broad.mit.edu	37	chr16	4787857	4787857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaccaaacctccctgatTccagacctgtcggaggagct	9	14	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:4787857T>C	uc002cxn.2	+	3	648	c.186T>C	c.(184-186)ATT>ATC	p.I62I		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	62										central_nervous_system(1)	1						CCTCCCTGATTCCAGACCTGT	0.582													C	4787857	T	C	4787857	2	2	280	1	0	0	0	0	0	0	0	1	1830	1771	62	3		3	C16orf71	16	4787857	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	64206	4787857	85566896	622	144703											
UBN1	29855	broad.mit.edu	37	chr16	4924265	4924265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatcaggacagattggTggccccattgctttgccctc	10	14	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:4924265T>C	uc002cyb.2	+	15	2193	c.1854T>C	c.(1852-1854)GGT>GGC	p.G618G	UBN1_uc010uxw.1_Silent_p.G618G|UBN1_uc002cyc.2_Silent_p.G618G	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	618					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			skin(2)	2						GACAGATTGGTGGCCCCATTG	0.517													C	4924265	T	C	4924265	2	2	280	1	0	0	0	0	0	0	0	1	16889	1683	59	3		3	UBN1	16	4924265	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	136408	4924265	85430488	623	144704											
PPL	5493	broad.mit.edu	37	chr16	4940285	4940285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagcacgtggtcatggCcgcggtggaagtgctcgtag	16	10	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:4940285C>T	uc002cyd.1	-	18	2303	c.2213G>A	c.(2212-2214)GGC>GAC	p.G738D		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	738	Spectrin 4.|Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GTGGTCATGGCCGCGGTGGAA	0.597													T	4940285	C	T	4940285	3	4	280	1	0	0	0	0	1	0	0	0	12334	739	26	2	3077	2	PPL	16	4940285	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	16020	4940285	85414468	624	144705											
CPPED1	55313	broad.mit.edu	37	chr16	12758926	12758926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgaggttctggtaggtAcccccggcattcctgtggta	13	10	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:12758926A>G	uc002dca.3	-	4	873	c.762T>C	c.(760-762)GGT>GGC	p.G254G	CPPED1_uc002dcb.3_Silent_p.G112G|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	254							hydrolase activity|metal ion binding				0						TCTGGTAGGTACCCCCGGCAT	0.572													G	12758926	A	G	12758926	2	3	280	1	0	0	0	0	0	0	0	1	3822	378	14	3		3	CPPED1	16	12758926	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	7818641	12758926	77595827	625	144706											
METTL9	51108	broad.mit.edu	37	chr16	21666562	21666562	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tattagtaggtggcaagtggGagaaaccatcagaaattttg	12	4	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:21666562G>T	uc002dje.2	+	5	965	c.766G>T	c.(766-768)GAG>TAG	p.E256*	uc002diq.3_Intron|METTL9_uc002djf.2_Nonsense_Mutation_p.E255*|IGSF6_uc002djg.1_5'Flank|IGSF6_uc010vbi.1_5'Flank	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	256										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)		TGGCAAGTGGGAGAAACCATC	0.343													T	21666562	G	T	21666562	4	4	280	1	0	0	0	0	0	1	0	0	9508	1175	41	5	784	5	METTL9	16	21666562	Nonsense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	8907636	21666562	68688191	626	144707											
MVP	9961	broad.mit.edu	37	chr16	29853066	29853066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacacagctaagagcctccaGcccttggcgccccggaacaa	10	16	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:29853066G>T	uc002dui.2	+	9	1425	c.1341G>T	c.(1339-1341)CAG>CAT	p.Q447H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.Q447H|MVP_uc010vea.1_Missense_Mutation_p.Q41H	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	447	MVP 8.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGAGCCTCCAGCCCTTGGCGC	0.647													T	29853066	G	T	29853066	3	4	280	1	0	0	0	0	1	0	0	0	9996	962	34	5	1371	5	MVP	16	29853066	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	8186504	29853066	60501687	627	144708											
CHD9	80205	broad.mit.edu	37	chr16	53296901	53296901	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccattatatatttcaggcGagttttgtggcatctggaaa	10	6	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:53296901G>A	uc002ehb.2	+	19	4376	c.4212G>A	c.(4210-4212)GCG>GCA	p.A1404A	CHD9_uc002egy.2_Silent_p.A1404A|CHD9_uc002ehc.2_Silent_p.A1404A|CHD9_uc002ehf.2_Silent_p.A518A|CHD9_uc002ehd.2_Silent_p.A930A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1404					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TATTTCAGGCGAGTTTTGTGG	0.353													A	53296901	G	A	53296901	2	1	280	1	0	0	0	0	0	0	0	1	3332	1045	37	1		1	CHD9	16	53296901	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	23443835	53296901	37057852	628	144709											
IRX6	79190	broad.mit.edu	37	chr16	55362689	55362689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaagaggaggaggaggagGaggaagctgaagacgaggag	22	2	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:55362689G>A	uc002ehy.2	+	5	1332	c.799G>A	c.(799-801)GAG>AAG	p.E267K	IRX6_uc002ehx.2_Missense_Mutation_p.E267K	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						ggaggaggaggaggaagctga	0.502													A	55362689	G	A	55362689	3	1	280	1	0	0	0	0	1	0	0	0	7848	1175	41	4	817	4	IRX6	16	55362689	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2065788	55362689	34992064	629	144710											
HYDIN	54768	broad.mit.edu	37	chr16	70902515	70902515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcatgtttctgggtacGtccacccacttgactgtgtg	11	12	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:70902515G>A	uc002ezr.2	-	66	11393	c.11265C>T	c.(11263-11265)GAC>GAT	p.D3755D	HYDIN_uc010cfy.2_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3756										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TTCTGGGTACGTCCACCCACT	0.527													A	70902515	G	A	70902515	2	1	280	1	0	0	0	0	0	0	0	1	7467	1136	40	1		1	HYDIN	16	70902515	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	15539826	70902515	19452238	630	144711											
CHST4	10164	broad.mit.edu	37	chr16	71570602	71570602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctactgcctaaaaaaatgAagctcctgctgtttctggtt	8	9	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:71570602A>G	uc002fan.2	+	2	203	c.22A>G	c.(22-24)AAG>GAG	p.K8E	CHST4_uc002fao.2_Missense_Mutation_p.K8E	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	8	Helical; Signal-anchor for type II membrane protein; (Potential).				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				0						TAAAAAAATGAAGCTCCTGCT	0.463													G	71570602	A	G	71570602	3	3	280	1	0	0	0	0	1	0	0	0	3406	247	9	3	24	3	CHST4	16	71570602	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	668087	71570602	18784151	631	144712											
MARVELD3	91862	broad.mit.edu	37	chr16	71668207	71668207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagcttggggggcatttActactatcagttcggagggg	14	9	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:71668207A>G	uc002fat.2	+	3	770	c.707A>G	c.(706-708)TAC>TGC	p.Y236C	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	236	MARVEL.|Helical; (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				GGGGGCATTTACTACTATCAG	0.557													G	71668207	A	G	71668207	3	3	280	1	0	0	0	0	1	0	0	0	9319	391	14	3	717	3	MARVELD3	16	71668207	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	97605	71668207	18686546	632	144713											
ZFHX3	463	broad.mit.edu	37	chr16	72993579	72993579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgccactcccacaggCgcccccgccctgggtcagct	10	21	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:72993579C>T	uc002fck.2	-	2	1139	c.466G>A	c.(466-468)GCC>ACC	p.A156T	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	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			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTCCCACAGGCGCCCCCGCCC	0.677													T	72993579	C	T	72993579	3	4	280	1	0	0	0	0	1	0	0	0	17631	768	27	1	10681	1	ZFHX3	16	72993579	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1325372	72993579	17361174	633	144714											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327097	77327097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggggagggtttctgcgGcagagcccttgcagaggagt	17	9	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:77327097G>A	uc002ffc.3	-	20	3484	c.3065C>T	c.(3064-3066)GCC>GTC	p.A1022V	ADAMTS18_uc010chc.1_Missense_Mutation_p.A610V	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1022	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GGTTTCTGCGGCAGAGCCCTT	0.557													A	77327097	G	A	77327097	3	1	280	1	0	0	0	0	1	0	0	0	263	1203	42	2	616	2	ADAMTS18	16	77327097	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4333518	77327097	13027656	634	144715											
CDH13	1012	broad.mit.edu	37	chr16	83704413	83704413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtttcaagccacagtcgagGaaggagctgtgggagttatt	14	6	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:83704413G>A	uc002fgx.2	+	9	1240	c.1120G>A	c.(1120-1122)GAA>AAA	p.E374K	CDH13_uc010vns.1_Missense_Mutation_p.E421K|CDH13_uc010vnt.1_Missense_Mutation_p.E120K|CDH13_uc010vnu.1_Missense_Mutation_p.E335K	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	374	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)		CACAGTCGAGGAAGGAGCTGT	0.443													A	83704413	G	A	83704413	3	1	280	1	0	0	0	0	1	0	0	0	3099	1175	41	4	1154	4	CDH13	16	83704413	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6377316	83704413	6650340	635	144716											
FANCA	2175	broad.mit.edu	37	chr16	89831352	89831352	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttctgtgtgtccagagagaGagggcagctctctgccagtc	14	10	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr16:89831352G>C	uc002fou.1	-	28	2766	c.2724C>G	c.(2722-2724)CTC>CTG	p.L908L	FANCA_uc010vpn.1_Silent_p.L908L|FANCA_uc010vpo.1_Silent_p.L37L	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	908					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCCAGAGAGAGAGGGCAGCTC	0.552			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				C	89831352	G	C	89831352	2	2	280	1	0	0	0	0	0	0	0	1	5662	929	33	5		5	FANCA	16	89831352	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6126939	89831352	523401	636	144717											
SGSM2	9905	broad.mit.edu	37	chr17	2278838	2278838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccaggaccctgaagAttccagaccaaaacctgagc	10	14	0	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:2278838A>C	uc002fun.3	+	17	2193	c.2018A>C	c.(2017-2019)GAT>GCT	p.D673A	SGSM2_uc002fum.3_Missense_Mutation_p.D718A|SGSM2_uc010vqw.1_Missense_Mutation_p.D673A|SGSM2_uc002fup.1_5'UTR|SGSM2_uc002fuq.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	673	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GACCCTGAAGATTCCAGACCA	0.622													C	2278838	A	C	2278838	3	2	280	1	0	0	0	0	1	0	0	0	14223	333	12	5	2223	5	SGSM2	17	2278838	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		2278838	78916372	637	144718											
SGSM2	9905	broad.mit.edu	37	chr17	2279518	2279518	+	Frame_Shift_Del	DEL	C	C	-													gcaactactggtacttcacgCcccccaacctcgagaggctc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:2279517_2279517GC>G	uc002fum.4	+	18	2748	c.2571_2571GC>G	c.(2569-2571)acgfs	p.T857fs	SGSM2_uc002fun.4_Frame_Shift_Del_p.T812fs|SGSM2_uc010vqw.2_Frame_Shift_Del_p.T812fs|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	812	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)		GGTACTTCACGCCCCCCAACC	0.587													-	2279518	C	-	2279518	7	5	280	1	0	1	0	1	0	0	0	0	14223	739	26	0	2646	0	SGSM2	17	2279518	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	680	2279518	78915692	638	144719											
OR1G1	8390	broad.mit.edu	37	chr17	3030732	3030732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggaggttgcctgccacCgtgaccaagtacatgaacag	12	10	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:3030732C>T	uc002fvc.1	-	1	114	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCCTGCCACCGTGACCAAGT	0.512													T	3030732	C	T	3030732	2	4	280	1	0	0	0	0	0	0	0	1	10957	639	23	1		1	OR1G1	17	3030732	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	751214	3030732	78164478	639	144720											
CAMKK1	84254	broad.mit.edu	37	chr17	3787183	3787183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccccagactcacatagtGtctgtcttcactttcgttgt	6	12	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:3787183G>A	uc002fwt.2	-	4	551	c.457C>T	c.(457-459)CAC>TAC	p.H153Y	CAMKK1_uc002fwu.2_Missense_Mutation_p.H153Y|CAMKK1_uc002fwv.2_Missense_Mutation_p.H153Y	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	153	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCACATAGTGTCTGTCTTCA	0.572													A	3787183	G	A	3787183	3	1	280	1	0	0	0	0	1	0	0	0	2606	1377	48	4	1234	4	CAMKK1	17	3787183	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	756451	3787183	77408027	640	144721											
ZZEF1	23140	broad.mit.edu	37	chr17	3937503	3937503	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgagatggtaggtttcAttcaggtggcctgcgtttga	16	5	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:3937503A>G	uc002fxe.2	-	40	6454	c.6390T>C	c.(6388-6390)AAT>AAC	p.N2130N	ZZEF1_uc002fxh.2_Silent_p.N444N|ZZEF1_uc002fxi.2_Silent_p.N365N|ZZEF1_uc002fxj.1_Silent_p.N743N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2130							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGTAGGTTTCATTCAGGTGGC	0.542													G	3937503	A	G	3937503	2	3	280	1	0	0	0	0	0	0	0	1	18252	214	8	3		3	ZZEF1	17	3937503	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	150320	3937503	77257707	641	144722											
ALOX15	246	broad.mit.edu	37	chr17	4536510	4536510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcactcccaggagccccCggtcggccaagtcatcaggg	11	16	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:4536510C>T	uc002fyh.2	-	10	1363	c.1349G>A	c.(1348-1350)CGG>CAG	p.R450Q	ALOX15_uc010vsd.1_Missense_Mutation_p.R411Q|ALOX15_uc010vse.1_Missense_Mutation_p.R472Q	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	450	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAGGAGCCCCCGGTCGGCCAA	0.602													T	4536510	C	T	4536510	3	4	280	1	0	0	0	0	1	0	0	0	538	652	23	1	659	1	ALOX15	17	4536510	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	599007	4536510	76658700	642	144723											
NLRP1	22861	broad.mit.edu	37	chr17	5424952	5424952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacgggaatgaagcgcagGgcattatggatcattttcag	14	6	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:5424952G>A	uc002gci.2	-	13	4230	c.3675C>T	c.(3673-3675)GCC>GCT	p.A1225A	NLRP1_uc002gcg.1_Silent_p.A1229A|NLRP1_uc002gck.2_Silent_p.A1225A|NLRP1_uc002gcj.2_Silent_p.A1195A|NLRP1_uc002gcl.2_Silent_p.A1195A|NLRP1_uc002gch.3_Silent_p.A1225A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	1225					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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				TGAAGCGCAGGGCATTATGGA	0.552													A	5424952	G	A	5424952	2	1	280	1	0	0	0	0	0	0	0	1	10471	1219	43	4		4	NLRP1	17	5424952	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	888442	5424952	75770258	643	144724											
BCL6B	255877	broad.mit.edu	37	chr17	6930312	6930312	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatccacaccggggagaAgccctacccttgccctacct	9	17	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:6930312A>C	uc002geg.2	+	8	1286	c.1229A>C	c.(1228-1230)AAG>ACG	p.K410T	BCL6B_uc010clt.1_Missense_Mutation_p.K411T	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	410						nucleus	zinc ion binding			skin(1)	1						ACCGGGGAGAAGCCCTACCCT	0.627													C	6930312	A	C	6930312	3	2	280	1	0	0	0	0	1	0	0	0	1377	72	3	5	1255	5	BCL6B	17	6930312	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1505360	6930312	74264898	644	144725											
YBX2	51087	broad.mit.edu	37	chr17	7193637	7193637	+	Frame_Shift_Del	DEL	G	G	-													gccgtcggtagaagaagggtGgggggcaccatcgtcggggc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:7193636_7193636TG>T	uc002gfq.2	-	4	735	c.678_678CA>A	c.(676-678)ccafs	p.P226fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	226	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						AGAAGAAGGGTGGGGGGCACC	0.657													-	7193637	G	-	7193637	7	5	280	1	0	1	0	1	0	0	0	0	17467	1348	47	0	433	0	YBX2	17	7193637	Frame_Shift_Del	DEL	G	TCGA-HU-A4H4-01A-21D-A25D-08	263325	7193637	74001573	645	144726											
TP53	7157	broad.mit.edu	37	chr17	7577130	7577130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaacacgcacctcaaAgctgttccgtcccagtagat	8	14	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:7577130A>G	uc002gim.2	-	8	1002	c.808T>C	c.(808-810)TTT>CTT	p.F270L	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138L|TP53_uc010cng.1_Missense_Mutation_p.F138L|TP53_uc002gii.1_Missense_Mutation_p.F138L|TP53_uc010cnh.1_Missense_Mutation_p.F270L|TP53_uc010cni.1_Missense_Mutation_p.F270L|TP53_uc002gij.2_Missense_Mutation_p.F270L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	270	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CGCACCTCAAAGCTGTTCCGT	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			G	7577130	A	G	7577130	3	3	280	1	0	0	0	0	1	0	0	0	16378	72	3	3	478	3	TP53	17	7577130	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	383493	7577130	73618080	646	144727											
DNAH2	146754	broad.mit.edu	37	chr17	7722644	7722644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcagcctctttattctcAgcattgacaaaagccaccgc	5	14	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:7722644A>G	uc002giu.1	+	71	10947	c.10933A>G	c.(10933-10935)AGC>GGC	p.S3645G	DNAH2_uc010cnm.1_Missense_Mutation_p.S583G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3645					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTTATTCTCAGCATTGACAA	0.522													G	7722644	A	G	7722644	3	3	280	1	0	0	0	0	1	0	0	0	4602	188	7	3	11215	3	DNAH2	17	7722644	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	145514	7722644	73472566	647	144728											
CHD3	1107	broad.mit.edu	37	chr17	7810228	7810228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggcgttggtcaatgccGgaactgatgcctgaccccag	13	11	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:7810228G>A	uc002gje.2	+	30	4695	c.4545G>A	c.(4543-4545)CCG>CCA	p.P1515P	CHD3_uc002gjd.2_Silent_p.P1574P|CHD3_uc002gjf.2_Silent_p.P1515P|CHD3_uc002gjh.2_Silent_p.P91P|CHD3_uc002gjj.2_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1515					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(1)	1		Prostate(122;0.202)				GGTCAATGCCGGAACTGATGC	0.587													A	7810228	G	A	7810228	2	1	280	1	0	0	0	0	0	0	0	1	3326	1103	39	1		1	CHD3	17	7810228	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	87584	7810228	73384982	648	144729											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216523	8216523	+	Frame_Shift_Del	DEL	C	C	-													gatgccaccattttcggggaCcccccacagccagatcttga							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:8216522_8216522AC>A	uc002glc.3	+	2	1039	c.884_884AC>A	c.(883-885)gacfs	p.D295fs	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Frame_Shift_Del_p.D295fs|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	295					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						ATTTTCGGGGACCCCCCACAG	0.587													-	8216523	C	-	8216523	7	5	280	1	0	1	0	1	0	0	0	0	898	506	18	0	891	0	ARHGEF15	17	8216523	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	406295	8216523	72978687	649	144730											
FLCN	201163	broad.mit.edu	37	chr17	17122405	17122405	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccacagcctgagagagaGgaggactctgccgggccctg	14	14	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:17122405G>T	uc002gra.3	-	9	1494	c.990C>A	c.(988-990)TCC>TCA	p.S330S	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	330					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						CTGAGAGAGAGGAGGACTCTG	0.637									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				T	17122405	G	T	17122405	2	4	280	1	0	0	0	0	0	0	0	1	5921	987	35	5		5	FLCN	17	17122405	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	8905882	17122405	64072805	650	144731											
SREBF1	6720	broad.mit.edu	37	chr17	17721095	17721095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgccaagggacaagGggctgctctggaaaggtgag	16	10	1	1	rs149397348		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:17721095G>T	uc002gru.1	-	7	1513	c.1319C>A	c.(1318-1320)CCC>CAC	p.P440H	SREBF1_uc002grp.1_Missense_Mutation_p.P10T|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.P186H|SREBF1_uc002grs.1_Missense_Mutation_p.P416H|SREBF1_uc002grt.1_Missense_Mutation_p.P470H|SREBF1_uc010cpp.1_Missense_Mutation_p.P416H|SREBF1_uc010cpq.1_Missense_Mutation_p.P440H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	440	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				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|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						AAGGGACAAGGGGCTGCTCTG	0.642													T	17721095	G	T	17721095	3	4	280	1	0	0	0	0	1	0	0	0	15140	1232	43	5	2176	5	SREBF1	17	17721095	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	598690	17721095	63474115	651	144732											
ULK2	9706	broad.mit.edu	37	chr17	19729453	19729453	+	Splice_Site	DEL	T	T	-													acaaaaaatggatactcacaTttttttactggaccttgctc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:19729452_19729452AT>A	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					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)					GGATACTCACATTTTTTTACT	0.294													-	19729453	T	-	19729453	8	5	280	1	0	1	0	1	0	0	1	0	16973	1507	52	0	2344	0	ULK2	17	19729453	Splice_Site	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	2008358	19729453	61465757	652	144733											
NOS2	4843	broad.mit.edu	37	chr17	26097971	26097971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcagtctccattgccaaAcgtactggtcaccaccaaca	8	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:26097971A>G	uc002gzu.2	-	15	2041	c.1777T>C	c.(1777-1779)TTT>CTT	p.F593L	NOS2_uc010crh.1_Missense_Mutation_p.F593L|NOS2_uc010wab.1_Intron	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	593	Flavodoxin-like.				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			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCATTGCCAAACGTACTGGTC	0.602													G	26097971	A	G	26097971	3	3	280	1	0	0	0	0	1	0	0	0	10543	43	2	3	1736	3	NOS2	17	26097971	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	6368518	26097971	55097239	653	144734											
MYO1D	4642	broad.mit.edu	37	chr17	31048090	31048090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcaaatcctgcccgacGcactctcacattttccagta	7	14	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:31048090G>A	uc002hho.1	-	15	1876	c.1864C>T	c.(1864-1866)CGT>TGT	p.R622C	MYO1D_uc002hhp.1_Missense_Mutation_p.R622C	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	622	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTGCCCGACGCACTCTCACA	0.453													A	31048090	G	A	31048090	3	1	280	1	0	0	0	0	1	0	0	0	10071	1087	38	1	1188	1	MYO1D	17	31048090	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4950119	31048090	50147120	654	144735											
CCT6B	10693	broad.mit.edu	37	chr17	33269816	33269816	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaagtaacacgcacgTtttttcatattccagtgaaa	7	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:33269816T>G	uc002hig.2	-	6	818	c.724A>C	c.(724-726)ACA>CCA	p.T242P	CCT6B_uc010ctg.2_Intron|CCT6B_uc010wcc.1_Missense_Mutation_p.T197P	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	242					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				AACACGCACGTTTTTTCATAT	0.338													G	33269816	T	G	33269816	3	3	280	1	0	0	0	0	1	0	0	0	2958	1739	60	5	904	5	CCT6B	17	33269816	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2221726	33269816	47925394	655	144736											
PIP4K2B	8396	broad.mit.edu	37	chr17	36940538	36940538	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacctctcccgaaggttTcggaacaccatggggcaata	9	13	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:36940538T>C	uc002hqs.2	-	3	793	c.312A>G	c.(310-312)CGA>CGG	p.R104R	PIP4K2B_uc010wdt.1_Silent_p.R104R|PIP4K2B_uc010wdu.1_Silent_p.R40R	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	104	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						CCCGAAGGTTTCGGAACACCA	0.498													C	36940538	T	C	36940538	2	2	280	1	0	0	0	0	0	0	0	1	11937	1770	62	3		3	PIP4K2B	17	36940538	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3670722	36940538	44254672	656	144737											
MED1	5469	broad.mit.edu	37	chr17	37564679	37564679	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagatgccgtacaGgaattagatgatgggggagt	18	3	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:37564679G>T	uc002hrv.3	-	17	4007	c.3795C>A	c.(3793-3795)TCC>TCA	p.S1265S	MED1_uc010wee.1_Silent_p.S1093S|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1265	Ser-rich.|Interaction with TP53.				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			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		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)		ATGCCGTACAGGAATTAGATG	0.478										HNSCC(31;0.082)			T	37564679	G	T	37564679	2	4	280	1	0	0	0	0	0	0	0	1	9425	987	35	5		5	MED1	17	37564679	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	624141	37564679	43630531	657	144738											
MED1	5469	broad.mit.edu	37	chr17	37565515	37565515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtttgctgtctaatcCgggccccgagagagtactat	11	12	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:37565515C>T	uc002hrv.3	-	17	3171	c.2959G>A	c.(2959-2961)GGA>AGA	p.G987R	MED1_uc010wee.1_Missense_Mutation_p.G815R|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	987	Interaction with ESR1.				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			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		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)		CTGTCTAATCCGGGCCCCGAG	0.502										HNSCC(31;0.082)			T	37565515	C	T	37565515	3	4	280	1	0	0	0	0	1	0	0	0	9425	661	23	1	1790	1	MED1	17	37565515	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	836	37565515	43629695	658	144739											
CDK12	51755	broad.mit.edu	37	chr17	37687432	37687432	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actatggggagctggggccaGgaaccactggggccagcagc	17	11	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:37687432G>T	uc010cvv.2	+	14	4922	c.4336G>T	c.(4336-4338)GGA>TGA	p.G1446*	CDK12_uc002hrw.3_Nonsense_Mutation_p.G1437*	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1446					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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GCTGGGGCCAGGAACCACTGG	0.577										TCGA Ovarian(9;0.13)			T	37687432	G	T	37687432	4	4	280	1	0	0	0	0	0	1	0	0	3128	1001	35	5	4390	5	CDK12	17	37687432	Nonsense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	121917	37687432	43507778	659	144740											
KLHL10	317719	broad.mit.edu	37	chr17	40001522	40001522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgaatggaccctctaatTctgatttcaccaacccactc	4	14	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:40001522T>C	uc010cxr.2	+	3	971	c.829T>C	c.(829-831)TCT>CCT	p.S277P	KLHL10_uc010wfv.1_Missense_Mutation_p.S271P|KLHL10_uc010wfw.1_Missense_Mutation_p.S189P	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	277						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				ACCCTCTAATTCTGATTTCAC	0.483													C	40001522	T	C	40001522	3	2	280	1	0	0	0	0	1	0	0	0	8366	1783	62	3	839	3	KLHL10	17	40001522	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2314090	40001522	41193688	660	144741											
TMUB2	79089	broad.mit.edu	37	chr17	42266499	42266499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgctgattctagccTtggtcctagcttggctctct	12	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:42266499T>C	uc002ifo.2	+	3	302	c.145T>C	c.(145-147)TTG>CTG	p.L49L	C17orf65_uc002ifn.2_5'Flank|TMUB2_uc002ifp.2_Silent_p.L29L|TMUB2_uc010wiu.1_Silent_p.L29L|TMUB2_uc002ifq.2_Silent_p.L49L|TMUB2_uc002ifr.2_Silent_p.L29L|TMUB2_uc002ifs.2_Intron|TMUB2_uc002ift.2_Silent_p.L29L|TMUB2_uc002ifu.2_Silent_p.L29L|TMUB2_uc002ifv.2_Silent_p.L29L|TMUB2_uc002ifw.1_Silent_p.L29L|TMUB2_uc002ifx.2_Silent_p.L29L|TMUB2_uc002ify.2_RNA	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	49	Helical; (Potential).					integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATTCTAGCCTTGGTCCTAGC	0.587													C	42266499	T	C	42266499	2	2	280	1	0	0	0	0	0	0	0	1	16262	1606	56	3		3	TMUB2	17	42266499	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2264977	42266499	38928711	661	144742											
FZD2	2535	broad.mit.edu	37	chr17	42635342	42635342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcctgtgctccatgTacgcacccgtgtgcaccgtg	10	15	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:42635342T>C	uc002igx.1	+	1	418	c.286T>C	c.(286-288)TAC>CAC	p.Y96H		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	96	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGCTCCATGTACGCACCCGT	0.637													C	42635342	T	C	42635342	3	2	280	1	0	0	0	0	1	0	0	0	6130	1638	57	3	288	3	FZD2	17	42635342	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	368843	42635342	38559868	662	144743											
ADAM11	4185	broad.mit.edu	37	chr17	42849123	42849123	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcctctctctccacaGtggggtcttctctgatggga	12	13	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:42849123G>T	uc002ihh.2	+	6	468	c.468_splice	c.e6-1	p.H156_splice	ADAM11_uc010wjd.1_Splice_Site	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein						integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				TCTCTCCACAGTGGGGTCTTC	0.657													T	42849123	G	T	42849123	5	4	280	1	0	0	0	0	0	0	1	0	235	1043	36	5	489	5	ADAM11	17	42849123	Splice_Site	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	213781	42849123	38346087	663	144744											
KIF18B	146909	broad.mit.edu	37	chr17	43005672	43005672	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcccctgtgaaggttgGgtgtcaggcagagaccctct	15	11	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:43005672G>T	uc010wji.1	-	13	2108	c.2007C>A	c.(2005-2007)ACC>ACA	p.T669T	KIF18B_uc002iht.2_Silent_p.T678T|KIF18B_uc010wjh.1_Silent_p.T666T	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				GTGAAGGTTGGGTGTCAGGCA	0.657													T	43005672	G	T	43005672	2	4	280	1	0	0	0	0	0	0	0	1	8281	1219	43	5		5	KIF18B	17	43005672	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	156549	43005672	38189538	664	144745											
HOXB4	3214	broad.mit.edu	37	chr17	46654092	46654092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgggggcactagagcgCgcgggggcctccattgggcc	19	13	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:46654092C>T	uc002inp.2	-	2	810	c.748G>A	c.(748-750)GCG>ACG	p.A250T	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CACTAGAGCGCGCGGGGGCCT	0.721													T	46654092	C	T	46654092	3	4	280	1	0	0	0	0	1	0	0	0	7303	768	27	1	11	1	HOXB4	17	46654092	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3648420	46654092	34541118	665	144746											
LUC7L3	51747	broad.mit.edu	37	chr17	48827882	48827883	+	Frame_Shift_Ins	INS	-	-	A													aaagaggggatctgatgataINSaaaaaagtagtgtgaagtcc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:48827881_48827882T>TA	uc002isq.3	+	9	1326_1327	c.1158_1159T>TA	c.(1156-1161)gataaafs	p.D386fs	LUC7L3_uc010wmw.2_Frame_Shift_Ins_p.D310fs|LUC7L3_uc002isr.3_Frame_Shift_Ins_p.D386fs|LUC7L3_uc002iss.3_Frame_Shift_Ins_p.D386fs|AK090674_uc002ist.1_5'Flank	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	386	Arg/Ser-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	p.D386fs*2(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GATCTGATGATAAAAAAAGTAG	0.356													A	48827883	-	A	48827882	7	5	280	1	0	1	1	0	0	0	0	0	9084	363	13	0	1197	0	LUC7L3	17	48827882	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	2173790	48827882	32367328	666	144747											
UTP18	51096	broad.mit.edu	37	chr17	49346264	49346264	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagcggaaaacatcttcagaTggtgagcgttgatatttctg	11	6	3	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:49346264T>A	uc002its.2	+	4	670	c.621T>A	c.(619-621)GAT>GAA	p.D207E		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	207					rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CATCTTCAGATGGTGAGCGTT	0.378													A	49346264	T	A	49346264	3	1	280	1	0	0	0	0	1	0	0	0	17095	1478	51	5	635	5	UTP18	17	49346264	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	518382	49346264	31848946	667	144748											
HLF	3131	broad.mit.edu	37	chr17	53398104	53398104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcccggaggctgaaagagaAccagatcgccatccgggcct	13	14	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:53398104A>G	uc002iug.1	+	4	1277	c.752A>G	c.(751-753)AAC>AGC	p.N251S	HLF_uc010dce.1_Missense_Mutation_p.N166S|HLF_uc002iuh.2_Missense_Mutation_p.N166S|HLF_uc010wni.1_Missense_Mutation_p.N198S	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	251					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						CTGAAAGAGAACCAGATCGCC	0.577			T	TCF3	ALL								G	53398104	A	G	53398104	3	3	280	1	0	0	0	0	1	0	0	0	7214	43	2	3	766	3	HLF	17	53398104	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	4051840	53398104	27797106	668	144749											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435162	+	Frame_Shift_Ins	INS	-	-	C													aggggtgggctcggagggacINSccccccgccttttcctctgt							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:56435160_56435161A>AC	uc002iwf.3	-	7	3932_3933	c.1976_1977T>GT	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Ins_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Ins_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Ins_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(2)		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)					GCTCGGAGGGACCCCCCCGCCT	0.599													C	56435162	-	C	56435161	7	5	280	1	0	1	1	0	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	3037057	56435161	24760049	669	144750											
TRIM37	4591	broad.mit.edu	37	chr17	57168701	57168701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgctctgtcagccagcGctaagggggcaaaagattag	12	10	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:57168701G>A	uc002iwy.3	-	3	568	c.124C>T	c.(124-126)CGC>TGC	p.R42C	TRIM37_uc002iwz.3_Missense_Mutation_p.R42C|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Missense_Mutation_p.R8C	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	42	RING-type; degenerate.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTCAGCCAGCGCTAAGGGGGC	0.284									Mulibrey_Nanism				A	57168701	G	A	57168701	3	1	280	1	0	0	0	0	1	0	0	0	16508	1101	38	1	2866	1	TRIM37	17	57168701	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	733540	57168701	24026509	670	144751											
DHX40	79665	broad.mit.edu	37	chr17	57644096	57644096	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaattcattccttattgTtactggaaatacaggaagtg	9	6	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:57644096T>G	uc002ixn.1	+	2	368	c.221T>G	c.(220-222)GTT>GGT	p.V74G	DHX40_uc010woe.1_Intron|DHX40_uc002ixo.1_5'UTR	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	74	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCCTTATTGTTACTGGAAAT	0.343													G	57644096	T	G	57644096	3	3	280	1	0	0	0	0	1	0	0	0	4512	1725	60	5	227	5	DHX40	17	57644096	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	475395	57644096	23551114	671	144752											
MED13	9969	broad.mit.edu	37	chr17	60107230	60107230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgttctgtgctctgttcAtattgcattcttgccaaact	6	10	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:60107230A>G	uc002izo.2	-	7	1231	c.1154T>C	c.(1153-1155)ATG>ACG	p.M385T	MED13_uc002izp.2_Missense_Mutation_p.M1T	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	385					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			large_intestine(1)|ovary(1)	2						TGCTCTGTTCATATTGCATTC	0.338													G	60107230	A	G	60107230	3	3	280	1	0	0	0	0	1	0	0	0	9430	217	8	3	5466	3	MED13	17	60107230	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2463134	60107230	21087980	672	144753											
PSMC5	5705	broad.mit.edu	37	chr17	61907726	61907726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattagtgtcactgatgatGgtggagaaagtaccagattc	11	7	1	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:61907726G>A	uc002jcb.2	+	6	458	c.417G>A	c.(415-417)ATG>ATA	p.M139I	FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.M116I|PSMC5_uc010ddz.2_Missense_Mutation_p.M60I|PSMC5_uc002jcc.2_Missense_Mutation_p.M131I|PSMC5_uc002jcd.2_Missense_Mutation_p.M131I	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	139					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						CACTGATGATGGTGGAGAAAG	0.483													A	61907726	G	A	61907726	3	1	280	1	0	0	0	0	1	0	0	0	12690	1348	47	4	439	4	PSMC5	17	61907726	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1800496	61907726	19287484	673	144754											
PSMC5	5705	broad.mit.edu	37	chr17	61908549	61908549	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgctggagttgctcaAccagctcgacggctttgagg	13	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:61908549A>C	uc002jcb.2	+	8	874	c.833A>C	c.(832-834)AAC>ACC	p.N278T	PSMC5_uc010ddy.2_Missense_Mutation_p.N255T|PSMC5_uc010ddz.2_Missense_Mutation_p.N199T|PSMC5_uc002jcc.2_Missense_Mutation_p.N270T|PSMC5_uc002jcd.2_Missense_Mutation_p.N270T	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	278					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						GAGTTGCTCAACCAGCTCGAC	0.597													C	61908549	A	C	61908549	3	2	280	1	0	0	0	0	1	0	0	0	12690	43	2	5	863	5	PSMC5	17	61908549	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	823	61908549	19286661	674	144755											
CSHL1	1444	broad.mit.edu	37	chr17	61988131	61988131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagagcttataaactccTggtaggtgtcaatggccagc	10	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:61988131T>G	uc002jda.1	-	2	226	c.164A>C	c.(163-165)CAG>CCG	p.Q55P	CSHL1_uc002jcz.1_Missense_Mutation_p.Q55P|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc002jde.2_Missense_Mutation_p.Q83P|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Missense_Mutation_p.Q55P|CSHL1_uc002jdh.2_Intron	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	55						extracellular region	hormone activity|metal ion binding				0						TATAAACTCCTGGTAGGTGTC	0.557													G	61988131	T	G	61988131	3	3	280	1	0	0	0	0	1	0	0	0	3942	1580	55	5	520	5	CSHL1	17	61988131	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	79582	61988131	19207079	675	144756											
UNK	85451	broad.mit.edu	37	chr17	73806045	73806045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcctctgcccggagggCgacgagtgagtgacccagcc	15	14	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:73806045C>T	uc002jpm.2	+	3	537	c.537C>T	c.(535-537)GGC>GGT	p.G179G		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	103	C3H1-type 1.						nucleic acid binding|zinc ion binding				0			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)			GCCCGGAGGGCGACGAGTGAG	0.647													T	73806045	C	T	73806045	2	4	280	1	0	0	0	0	0	0	0	1	16997	755	27	1		1	UNK	17	73806045	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	11817914	73806045	7389165	676	144757											
FOXJ1	2302	broad.mit.edu	37	chr17	74136102	74136102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagatgagcgtggcataCgagtagggaggcttcacgtg	16	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:74136102C>T	uc002jqw.2	-	1	465	c.375G>A	c.(373-375)TCG>TCA	p.S125S	FOXJ1_uc002jqx.2_Silent_p.S125S|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	125	Fork-head.				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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GCGTGGCATACGAGTAGGGAG	0.647													T	74136102	C	T	74136102	2	4	280	1	0	0	0	0	0	0	0	1	6011	523	19	1		1	FOXJ1	17	74136102	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	330057	74136102	7059108	677	144758											
RHBDF2	79651	broad.mit.edu	37	chr17	74473803	74473803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcctccaggaagctcGggaaggcaaagctgcgcttg	12	13	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:74473803G>A	uc002jrq.1	-	7	1117	c.824C>T	c.(823-825)CCG>CTG	p.P275L	RHBDF2_uc002jrp.1_Missense_Mutation_p.P246L|RHBDF2_uc002jrr.1_Missense_Mutation_p.P127L|RHBDF2_uc010wtf.1_Missense_Mutation_p.P246L|RHBDF2_uc002jrs.1_Missense_Mutation_p.P270L	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	275	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						CAGGAAGCTCGGGAAGGCAAA	0.622													A	74473803	G	A	74473803	3	1	280	1	0	0	0	0	1	0	0	0	13320	1116	39	1	1798	1	RHBDF2	17	74473803	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	337701	74473803	6721407	678	144759											
USP36	57602	broad.mit.edu	37	chr17	76799589	76799589	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcccacctgctggccattCacctgtggctgtgtgccatc	9	16	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:76799589C>T	uc002jvz.1	-	16	3013	c.2688G>A	c.(2686-2688)GTG>GTA	p.V896V	USP36_uc002jwa.1_Silent_p.V896V|USP36_uc002jwb.1_Silent_p.V508V|USP36_uc002jwc.1_Silent_p.V596V|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	896					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCTGGCCATTCACCTGTGGCT	0.637													T	76799589	C	T	76799589	2	4	280	1	0	0	0	0	0	0	0	1	17064	813	29	4		4	USP36	17	76799589	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2325786	76799589	4395621	679	144760											
BAHCC1	57597	broad.mit.edu	37	chr17	79429898	79429898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcccctacatcggccgcAtcgagagcatgtgggagtcg	12	14	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:79429898A>G	uc002kaf.2	+	25	7516	c.7516A>G	c.(7516-7518)ATC>GTC	p.I2506V		NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2506	BAH.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CATCGGCCGCATCGAGAGCAT	0.637													G	79429898	A	G	79429898	3	3	280	1	0	0	0	0	1	0	0	0	1296	217	8	3	7453	3	BAHCC1	17	79429898	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2630309	79429898	1765312	680	144761											
SLC16A3	9123	broad.mit.edu	37	chr17	80195437	80195437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcccgacaccaaggccgCcttcctgctcaccatcctgg	9	19	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:80195437C>T	uc002kea.2	+	4	930	c.791C>T	c.(790-792)GCC>GTC	p.A264V	SLC16A3_uc002kee.2_Missense_Mutation_p.A264V|SLC16A3_uc002keb.2_Missense_Mutation_p.A264V|SLC16A3_uc002kec.2_Missense_Mutation_p.A264V|SLC16A3_uc002ked.2_Missense_Mutation_p.A264V	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	264	Extracellular (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	ACCAAGGCCGCCTTCCTGCTC	0.687													T	80195437	C	T	80195437	3	4	280	1	0	0	0	0	1	0	0	0	14409	739	26	2	801	2	SLC16A3	17	80195437	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	765539	80195437	999773	681	144762											
WDR45L	56270	broad.mit.edu	37	chr17	80579670	80579670	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actattgggacaaaggacacAgaggcctgcgtggagacaga	14	8	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr17:80579670A>G	uc002kfq.2	-	6	628	c.433T>C	c.(433-435)TGT>CGT	p.C145R	WDR45L_uc002kfr.2_RNA	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	145					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			CAAAGGACACAGAGGCCTGCG	0.542													G	80579670	A	G	80579670	3	3	280	1	0	0	0	0	1	0	0	0	17295	188	7	3	621	3	WDR45L	17	80579670	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	384233	80579670	615540	682	144763											
YES1	7525	broad.mit.edu	37	chr18	747955	747955	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgcaggcgctacataAttgctcgggatataaccatt	9	9	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:747955A>G	uc002kky.2	-	4	656	c.435T>C	c.(433-435)AAT>AAC	p.N145N	YES1_uc002kkz.2_Silent_p.N145N	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	145	SH3.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	GCGCTACATAATTGCTCGGGA	0.388													G	747955	A	G	747955	2	3	280	1	0	0	0	0	0	0	0	1	17471	98	4	3		3	YES1	18	747955	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		747955	77329293	683	144764											
ABHD3	171586	broad.mit.edu	37	chr18	19282376	19282376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagatagtaggtctggtgCtggcatccatataacacgta	10	7	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:19282376C>T	uc002ktl.2	-	3	550	c.410G>A	c.(409-411)AGC>AAC	p.S137N	ABHD3_uc002ktm.2_Missense_Mutation_p.S137N|ABHD3_uc010xao.1_RNA|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Missense_Mutation_p.S137N	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	137						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						AGGTCTGGTGCTGGCATCCAT	0.398													T	19282376	C	T	19282376	3	4	280	1	0	0	0	0	1	0	0	0	83	797	28	2	847	2	ABHD3	18	19282376	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	18534421	19282376	58794872	684	144765											
GATA6	2627	broad.mit.edu	37	chr18	19751448	19751448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaggacttgctgctgTtcactgacctcgaccaagcc	12	13	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:19751448T>C	uc002ktt.1	+	2	608	c.343T>C	c.(343-345)TTC>CTC	p.F115L	GATA6_uc002ktu.1_Missense_Mutation_p.F115L	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	115					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			central_nervous_system(3)	3	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)			CTTGCTGCTGTTCACTGACCT	0.692													C	19751448	T	C	19751448	3	2	280	1	0	0	0	0	1	0	0	0	6258	1725	60	3	345	3	GATA6	18	19751448	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	469072	19751448	58325800	685	144766											
C18orf8	29919	broad.mit.edu	37	chr18	21107837	21107837	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccatgagtataaaaagtAcctggatgccgagcagagtt	10	8	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:21107837A>G	uc010xax.1	+	15	1389	c.1268A>G	c.(1267-1269)TAC>TGC	p.Y423C	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.Y47C	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	423										ovary(1)	1	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)					TATAAAAAGTACCTGGATGCC	0.463													G	21107837	A	G	21107837	3	3	280	1	0	0	0	0	1	0	0	0	1907	391	14	3	1322	3	C18orf8	18	21107837	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1356389	21107837	56969411	686	144767											
ZNF521	25925	broad.mit.edu	37	chr18	22902077	22902077	+	Frame_Shift_Del	DEL	C	C	-													agcttcgtcttccaactcctCcccgtcttccggcctcttct							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:22902076_22902076TC>T	uc002kvk.2	-	2	363	c.116_116GA>A	c.(115-117)gagfs	p.E39fs	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Frame_Shift_Del_p.E39fs|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	39					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)					TTCCAACTCCTCCCCGTCTTC	0.458			T	PAX5	ALL								-	22902077	C	-	22902077	7	5	280	1	0	1	0	1	0	0	0	0	17962	864	30	0	3844	0	ZNF521	18	22902077	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	1794240	22902077	55175171	687	144768											
DSC1	1823	broad.mit.edu	37	chr18	28711638	28711638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccccactcccttgacGgactccaaggtctgatgtcc	8	18	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:28711638G>A	uc002kwn.2	-	15	2668	c.2406C>T	c.(2404-2406)TCC>TCT	p.S802S	DSC1_uc002kwm.2_Silent_p.S802S|uc002kwo.1_RNA	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	802	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCCCTTGACGGACTCCAAGG	0.512													A	28711638	G	A	28711638	2	1	280	1	0	0	0	0	0	0	0	1	4765	1103	39	1		1	DSC1	18	28711638	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	5809561	28711638	49365610	688	144769											
SETBP1	26040	broad.mit.edu	37	chr18	42530560	42530560	+	Frame_Shift_Del	DEL	A	A	-													atccaaccaaccataagaggAaaaaaagacagtccattaaa							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:42530559_42530559GA>G	uc010dni.3	+	3	1550	c.1254_1254GA>G	c.(1252-1254)aggfs	p.R418fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	418						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCATAAGAGGAAAAAAAGAC	0.453									Schinzel-Giedion syndrome				-	42530560	A	-	42530560	7	5	280	1	0	1	0	1	0	0	0	0	14129	247	9	0	1458	0	SETBP1	18	42530560	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	13818922	42530560	35546688	689	144770											
SMAD4	4089	broad.mit.edu	37	chr18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacccttctggaggagatcGcttttgtttgggtcaactct	12	9	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:48591919G>A	uc010xdp.1	+	9	1620	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	SMAD4_uc002lfb.3_Missense_Mutation_p.R206H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		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?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		GGAGGAGATCGCTTTTGTTTG	0.413									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				A	48591919	G	A	48591919	3	1	280	1	0	0	0	0	1	0	0	0	14760	1087	38	1	1112	1	SMAD4	18	48591919	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6061359	48591919	29485329	690	144771											
ZNF532	55205	broad.mit.edu	37	chr18	56620958	56620958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggccagtcctgggtggaCgtgttgggagtgtgactgcc	18	8	0	1	rs144779931		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:56620958C>T	uc002lho.2	+	8	3624	c.3077C>T	c.(3076-3078)ACG>ATG	p.T1026M	ZNF532_uc002lhp.2_Missense_Mutation_p.T1024M|ZNF532_uc010xeg.1_Missense_Mutation_p.T1024M|ZNF532_uc002lhr.2_Missense_Mutation_p.T1024M|ZNF532_uc002lhs.2_Missense_Mutation_p.T1024M|ZNF532_uc010xeh.1_Missense_Mutation_p.T118M	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1026	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CCTGGGTGGACGTGTTGGGAG	0.468													T	56620958	C	T	56620958	3	4	280	1	0	0	0	0	1	0	0	0	17969	536	19	1	3095	1	ZNF532	18	56620958	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8029039	56620958	21456290	691	144772											
CBLN2	147381	broad.mit.edu	37	chr18	70209167	70209167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctagggaggaggtgacggCgccgtccgccgacgggctgg	20	12	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr18:70209167C>T	uc002lku.2	-	2	464	c.229G>A	c.(229-231)GCC>ACC	p.A77T	CBLN2_uc002lkv.2_Missense_Mutation_p.A77T	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	77						integral to membrane					0		Esophageal squamous(42;0.131)				GAGGTGACGGCGCCGTCCGCC	0.711													T	70209167	C	T	70209167	3	4	280	1	0	0	0	0	1	0	0	0	2705	768	27	1	457	1	CBLN2	18	70209167	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	13588209	70209167	7868081	692	144773											
TJP3	27134	broad.mit.edu	37	chr19	3738575	3738575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgacgtgccattccagaAcctgacacgggaggaggcag	14	10	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:3738575A>G	uc010xhv.1	+	11	1406	c.1406A>G	c.(1405-1407)AAC>AGC	p.N469S	TJP3_uc010xhs.1_Missense_Mutation_p.N436S|TJP3_uc010xht.1_Missense_Mutation_p.N400S|TJP3_uc010xhu.1_Missense_Mutation_p.N445S|TJP3_uc010xhw.1_Missense_Mutation_p.N455S	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	450	PDZ 3.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATTCCAGAACCTGACACGG	0.587													G	3738575	A	G	3738575	3	3	280	1	0	0	0	0	1	0	0	0	15928	43	2	3	1448	3	TJP3	19	3738575	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08		3738575	55390408	693	144774											
EEF2	1938	broad.mit.edu	37	chr19	3976713	3976713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgggggaacgcctggcCgcccgtgttggacctcaggt	15	13	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:3976713C>T	uc002lze.2	-	15	2499	c.2416G>A	c.(2416-2418)GGC>AGC	p.G806S		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	806						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		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)		AACGCCTGGCCGCCCGTGTTG	0.652													T	3976713	C	T	3976713	3	4	280	1	0	0	0	0	1	0	0	0	4929	652	23	1	164	1	EEF2	19	3976713	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	238138	3976713	55152270	694	144775											
TUBB4	10382	broad.mit.edu	37	chr19	6495703	6495703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctggtcaggggtgcgaaGccgggcatgaagaagtgcag	19	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:6495703G>A	uc002mfg.1	-	4	914	c.807C>T	c.(805-807)GGC>GGT	p.G269G	TUBB4_uc002mff.1_Silent_p.G197G|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	269				G -> A (in Ref. 1; CAA25318).	'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GGGGTGCGAAGCCGGGCATGA	0.657													A	6495703	G	A	6495703	2	1	280	1	0	0	0	0	0	0	0	1	16755	958	34	2		2	TUBB4	19	6495703	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2518990	6495703	52633280	695	144776											
SH2D3A	10045	broad.mit.edu	37	chr19	6754871	6754871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaatagcaggtgaagggCggtgctcccaggatggtgct	15	9	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:6754871C>T	uc002mft.2	-	5	1146	c.952G>A	c.(952-954)GCC>ACC	p.A318T	SH2D3A_uc010xjg.1_Missense_Mutation_p.A196T	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	318					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						AGGTGAAGGGCGGTGCTCCCA	0.637													T	6754871	C	T	6754871	3	4	280	1	0	0	0	0	1	0	0	0	14233	768	27	1	802	1	SH2D3A	19	6754871	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	259168	6754871	52374112	696	144777											
KIAA1543	57662	broad.mit.edu	37	chr19	7676871	7676871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagccatccctggccTccccctacctgcccgagggg	9	21	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:7676871T>C	uc002mgv.3	+	11	1593	c.1492T>C	c.(1492-1494)TCC>CCC	p.S498P	KIAA1543_uc002mgu.3_Missense_Mutation_p.S525P|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	498	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						ATCCCTGGCCTCCCCCTACCT	0.667													C	7676871	T	C	7676871	3	2	280	1	0	0	0	0	1	0	0	0	8243	1551	54	3	1623	3	KIAA1543	19	7676871	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	922000	7676871	51452112	697	144778											
OR7E24	26648	broad.mit.edu	37	chr19	9362606	9362606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggtggcttcagtgatgtAcactgtggtcacccccatgc	11	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:9362606A>G	uc002mlb.1	+	1	887	c.887A>G	c.(886-888)TAC>TGC	p.Y296C		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	296	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCAGTGATGTACACTGTGGTC	0.498													G	9362606	A	G	9362606	3	3	280	1	0	0	0	0	1	0	0	0	11221	391	14	3	889	3	OR7E24	19	9362606	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1685735	9362606	49766377	698	144779											
DNMT1	1786	broad.mit.edu	37	chr19	10249186	10249186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccggggagcaaacacGtgcagtggctccgggaacag	16	12	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:10249186G>A	uc002mng.2	-	34	4176	c.3996C>T	c.(3994-3996)CAC>CAT	p.H1332H	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.H256H|DNMT1_uc010xlc.1_Silent_p.H1348H|DNMT1_uc002mnh.2_Silent_p.H1227H|DNMT1_uc010xld.1_Silent_p.H1332H	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1332	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			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			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)	GAGCAAACACGTGCAGTGGCT	0.647													A	10249186	G	A	10249186	2	1	280	1	0	0	0	0	0	0	0	1	4675	1136	40	1		1	DNMT1	19	10249186	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	886580	10249186	48879797	699	144780											
S1PR2	9294	broad.mit.edu	37	chr19	10335474	10335474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgacgatgaaggccgaGgccacctggcgggaggtcgt	18	9	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:10335474G>A	uc002mnl.2	-	2	219	c.108C>T	c.(106-108)GCC>GCT	p.A36A		NM_004230	NP_004221	O95136	S1PR2_HUMAN	endothelial differentiation, sphingolipid	36	Helical; Name=1; (By similarity).				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|central_nervous_system(1)	2						TGAAGGCCGAGGCCACCTGGC	0.552													A	10335474	G	A	10335474	2	1	280	1	0	0	0	0	0	0	0	1	13794	987	35	4		4	S1PR2	19	10335474	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	86288	10335474	48793509	700	144781											
SMARCA4	6597	broad.mit.edu	37	chr19	11097671	11097671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagggcctcccaagccctGgcctgaaggtgagctccctc	13	15	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:11097671G>T	uc002mqf.3	+	5	1135	c.851G>T	c.(850-852)TGG>TTG	p.W284L	SMARCA4_uc010dxp.2_Missense_Mutation_p.W284L|SMARCA4_uc010dxo.2_Missense_Mutation_p.W284L|SMARCA4_uc002mqg.1_Missense_Mutation_p.W284L|SMARCA4_uc010dxq.2_Missense_Mutation_p.W284L|SMARCA4_uc010dxr.2_Missense_Mutation_p.W284L|SMARCA4_uc002mqj.3_Missense_Mutation_p.W284L|SMARCA4_uc010dxs.2_Missense_Mutation_p.W284L|SMARCA4_uc002mqe.2_Missense_Mutation_p.W284L	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	284					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)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCAAGCCCTGGCCTGAAGGT	0.637			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11097671	G	T	11097671	3	4	280	1	0	0	0	0	1	0	0	0	14770	1357	47	5	865	5	SMARCA4	19	11097671	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	762197	11097671	48031312	701	144782											
ZNF709	163051	broad.mit.edu	37	chr19	12576221	12576221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgaaagccttaccacacTgtttacatttatagggtttc	6	9	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:12576221T>C	uc002mtv.3	-	4	676	c.515A>G	c.(514-516)CAG>CGG	p.Q172R	ZNF709_uc002mtw.3_Missense_Mutation_p.Q140R|ZNF709_uc002mtx.3_Missense_Mutation_p.Q172R	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	172	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTACCACACTGTTTACATTT	0.388													C	12576221	T	C	12576221	3	2	280	1	0	0	0	0	1	0	0	0	18110	1580	55	3	1414	3	ZNF709	19	12576221	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1478550	12576221	46552762	702	144783											
ZNF490	57474	broad.mit.edu	37	chr19	12692000	12692000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctccagtgtgagtcctttCgtgggttagaaaaggctggt	13	8	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:12692000C>T	uc002mtz.2	-	5	1018	c.889G>A	c.(889-891)GAA>AAA	p.E297K		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	297	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGTCCTTTCGTGGGTTAGA	0.428													T	12692000	C	T	12692000	3	4	280	1	0	0	0	0	1	0	0	0	17938	893	31	1	704	1	ZNF490	19	12692000	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	115779	12692000	46436983	703	144784											
HOOK2	29911	broad.mit.edu	37	chr19	12883842	12883842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactaggctccgtaagaccAtcttcagattgctgacctag	8	12	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:12883842A>G	uc002muy.2	-	4	392	c.221T>C	c.(220-222)ATG>ACG	p.M74T	HOOK2_uc002muz.2_Missense_Mutation_p.M74T	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	74	Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation.				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			ovary(1)|breast(1)|skin(1)	3						CCGTAAGACCATCTTCAGATT	0.532													G	12883842	A	G	12883842	3	3	280	1	0	0	0	0	1	0	0	0	7283	217	8	3	2018	3	HOOK2	19	12883842	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	191842	12883842	46245141	704	144785											
NOTCH3	4854	broad.mit.edu	37	chr19	15300208	15300208	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctcgtggcaggggttgctGacacaggcgtcatccaggtg	15	11	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:15300208G>T	uc002nan.2	-	7	1144	c.1068C>A	c.(1066-1068)GTC>GTA	p.V356V	NOTCH3_uc002nao.1_Silent_p.V356V	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	356	Extracellular (Potential).|EGF-like 9.				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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGGTTGCTGACACAGGCGT	0.597													T	15300208	G	T	15300208	2	4	280	1	0	0	0	0	0	0	0	1	10550	1277	45	5		5	NOTCH3	19	15300208	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	2416366	15300208	43828775	705	144786											
COPE	11316	broad.mit.edu	37	chr19	19030060	19030060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcctcgtttatgcacTgctggtagctgccgatgtag	13	11	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:19030060T>C	uc002nkk.2	-	1	140	c.98A>G	c.(97-99)CAG>CGG	p.Q33R	COPE_uc002nkl.2_Missense_Mutation_p.Q33R|COPE_uc002nkm.2_Missense_Mutation_p.Q33R|COPE_uc002nkn.2_Missense_Mutation_p.Q33R|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkq.1_5'Flank|DDX49_uc002nkr.1_5'Flank|DDX49_uc002nks.1_5'Flank|DDX49_uc002nkt.1_5'Flank	NM_007263	NP_009194	O14579	COPE_HUMAN	epsilon subunit of coatomer protein complex	33					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				0						GTTTATGCACTGCTGGTAGCT	0.716													C	19030060	T	C	19030060	3	2	280	1	0	0	0	0	1	0	0	0	3730	1580	55	3	868	3	COPE	19	19030060	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3729852	19030060	40098923	706	144787											
SFRS14	10147	broad.mit.edu	37	chr19	19136068	19136068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgaggcaagcattttAgcacaggtttctgtttcaag	10	6	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:19136068A>G	uc002nkx.2	-	3	1235	c.1089T>C	c.(1087-1089)GCT>GCC	p.A363A	SFRS14_uc002nkz.1_Silent_p.A377A|SFRS14_uc002nla.1_Silent_p.A363A|SFRS14_uc002nlb.2_Silent_p.A363A|SFRS14_uc010xqk.1_Silent_p.A132A	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	363					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CAAGCATTTTAGCACAGGTTT	0.338													G	19136068	A	G	19136068	2	3	280	1	0	0	0	0	0	0	0	1	14170	407	15	3		3	SFRS14	19	19136068	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	106008	19136068	39992915	707	144788											
ZNF98	148198	broad.mit.edu	37	chr19	22585671	22585671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtgatcaggtctggcTtagaggcagcaatacctgtt	13	8	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:22585671T>G	uc002nqt.2	-	3	295	c.173A>C	c.(172-174)AAG>ACG	p.K58T		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGGTCTGGCTTAGAGGCAGC	0.398													G	22585671	T	G	22585671	3	3	280	1	0	0	0	0	1	0	0	0	18200	1609	56	5	1553	5	ZNF98	19	22585671	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3449603	22585671	36543312	708	144789											
ZNF536	9745	broad.mit.edu	37	chr19	30934931	30934931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgcgcacgcacacgggCgagaagcccttcaagtgccc	11	16	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:30934931C>T	uc002nsu.1	+	2	600	c.462C>T	c.(460-462)GGC>GGT	p.G154G	ZNF536_uc010edd.1_Silent_p.G154G	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGCACACGGGCGAGAAGCCCT	0.642													T	30934931	C	T	30934931	2	4	280	1	0	0	0	0	0	0	0	1	17971	755	27	1		1	ZNF536	19	30934931	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8349260	30934931	28194052	709	144790											
ZNF599	148103	broad.mit.edu	37	chr19	35251333	35251333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaatttttattagcttttCctcatctctagcttgcccca	4	12	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:35251333C>T	uc010edn.1	-	4	761	c.373G>A	c.(373-375)GAA>AAA	p.E125K	ZNF599_uc010edm.1_Missense_Mutation_p.E88K	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	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)			ATTAGCTTTTCCTCATCTCTA	0.453													T	35251333	C	T	35251333	3	4	280	1	0	0	0	0	1	0	0	0	18026	864	30	4	1397	4	ZNF599	19	35251333	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4316402	35251333	23877650	710	144791											
MAG	4099	broad.mit.edu	37	chr19	35786697	35786697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggtggtcttcaagtcGcgcacccaagtagtccacga	10	16	2	0	rs142334011	byFrequency	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:35786697G>A	uc002nyy.1	+	4	377	c.228G>A	c.(226-228)TCG>TCA	p.S76S	MAG_uc002nyx.1_Silent_p.S76S|MAG_uc010eds.1_Silent_p.S51S|MAG_uc002nyz.1_Silent_p.S76S	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	76	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			TCTTCAAGTCGCGCACCCAAG	0.642													A	35786697	G	A	35786697	2	1	280	1	0	0	0	0	0	0	0	1	9162	1074	38	1		1	MAG	19	35786697	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	535364	35786697	23342286	711	144792											
FFAR2	2867	broad.mit.edu	37	chr19	35940885	35940885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgagttttggcttctAcagcagcatctactgcagca	8	13	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:35940885A>G	uc002nzg.2	+	2	349	c.269A>G	c.(268-270)TAC>TGC	p.Y90C	FFAR2_uc010eea.2_Missense_Mutation_p.Y90C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	90	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	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)			TTTGGCTTCTACAGCAGCATC	0.622													G	35940885	A	G	35940885	3	3	280	1	0	0	0	0	1	0	0	0	5828	391	14	3	271	3	FFAR2	19	35940885	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	154188	35940885	23188098	712	144793											
ZNF829	374899	broad.mit.edu	37	chr19	37398892	37398892	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttttccttgttccaaTaaggagatcacagctggctt	9	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:37398892T>C	uc002ofa.1	-	5	620	c.258A>G	c.(256-258)TTA>TTG	p.L86L	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Silent_p.L86L	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGTTCCAATAAGGAGATCA	0.478													C	37398892	T	C	37398892	2	2	280	1	0	0	0	0	0	0	0	1	18179	1403	49	3		3	ZNF829	19	37398892	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1458007	37398892	21730091	713	144794											
BCKDHA	593	broad.mit.edu	37	chr19	41884397	41884398	+	Frame_Shift_Ins	INS	-	-	G													cctccgtgagcgctggcctgINSggggaaccaaggccccctga							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:41884396_41884397T>TG	uc002oqm.4	+	1	533_534	c.182_183T>TG	c.(181-183)ctgfs	p.L61fs	BCKDHA_uc002oqi.3_Frame_Shift_Ins_p.L61fs|BCKDHA_uc010ehq.3_Frame_Shift_Ins_p.L61fs|BCKDHA_uc010ehr.3_Frame_Shift_Ins_p.L61fs|BCKDHA_uc002oqk.4_Frame_Shift_Ins_p.L61fs|BCKDHA_uc010eht.3_Frame_Shift_Ins_p.L61fs|BCKDHA_uc010ehs.3_Frame_Shift_Ins_p.L61fs|BCKDHA_uc002oqn.3_Frame_Shift_Ins_p.L61fs	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					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						AGCGCTGGCCTGGGGGAACCAA	0.629													G	41884398	-	G	41884397	7	5	280	1	0	1	1	0	0	0	0	0	1359	1335	47	0		0	BCKDHA	19	41884397	Frame_Shift_Ins	INS	-	TCGA-HU-A4H4-01A-21D-A25D-08	4485505	41884397	17244586	714	144795											
ZNF221	7638	broad.mit.edu	37	chr19	44471162	44471162	+	Frame_Shift_Del	DEL	A	A	-													tcagagactccacagtggggAaaaacctttcaaatgtgaag							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:44471161_44471161GA>G	uc002oxx.2	+	5	1835	c.1507_1507GA>G	c.(1507-1509)gaafs	p.E503fs	ZNF221_uc010ejb.1_Frame_Shift_Del_p.E503fs|ZNF221_uc010xws.1_Frame_Shift_Del_p.E503fs	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	503					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)				CCACAGTGGGGAAAAACCTTT	0.448													-	44471162	A	-	44471162	7	5	280	1	0	1	0	1	0	0	0	0	17772	246	9	0	1522	0	ZNF221	19	44471162	Frame_Shift_Del	DEL	A	TCGA-HU-A4H4-01A-21D-A25D-08	2586765	44471162	14657821	715	144796											
ZNF180	7733	broad.mit.edu	37	chr19	44981523	44981523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaacaaggtgcgagctcCggctgaaggattttccacat	13	9	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:44981523C>T	uc002ozf.3	-	5	1457	c.1175G>A	c.(1174-1176)CGG>CAG	p.R392Q	ZNF180_uc002ozh.3_Missense_Mutation_p.R49Q|ZNF180_uc002ozi.3_Missense_Mutation_p.R365Q|ZNF180_uc002ozg.3_Missense_Mutation_p.R391Q|ZNF180_uc010ejm.2_Missense_Mutation_p.R367Q	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	392	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				GTGCGAGCTCCGGCTGAAGGA	0.458													T	44981523	C	T	44981523	3	4	280	1	0	0	0	0	1	0	0	0	17745	652	23	1	907	1	ZNF180	19	44981523	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	510361	44981523	14147460	716	144797											
OPA3	80207	broad.mit.edu	37	chr19	46056830	46056830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgggattgcagagctggGcgcgcacctcttgcagctct	15	13	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:46056830G>A	uc002pck.3	-	2	582	c.482C>T	c.(481-483)GCC>GTC	p.A161V	OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.A108V	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	161	Potential.				response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCAGAGCTGGGCGCGCACCTC	0.657													A	46056830	G	A	46056830	3	1	280	1	0	0	0	0	1	0	0	0	10872	1203	42	2	466	2	OPA3	19	46056830	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1075307	46056830	13072153	717	144798											
FBXO46	23403	broad.mit.edu	37	chr19	46215158	46215158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgtatctcttgcggcaCtgtttgcacggatcatcgcg	10	12	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:46215158C>T	uc002pcy.2	-	2	1721	c.1596G>A	c.(1594-1596)CAG>CAA	p.Q532Q	FBXO46_uc002pcz.2_Silent_p.Q532Q	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	532							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		TCTTGCGGCACTGTTTGCACG	0.627													T	46215158	C	T	46215158	2	4	280	1	0	0	0	0	0	0	0	1	5755	564	20	4		4	FBXO46	19	46215158	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	158328	46215158	12913825	718	144799											
RSPH6A	81492	broad.mit.edu	37	chr19	46318382	46318382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggcctgagaagtcctcCggcccggaggctgctgggca	18	12	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:46318382C>T	uc002pdm.2	-	1	196	c.53G>A	c.(52-54)CGG>CAG	p.R18Q		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	18						intracellular				ovary(1)|central_nervous_system(1)	2						AGAAGTCCTCCGGCCCGGAGG	0.672													T	46318382	C	T	46318382	3	4	280	1	0	0	0	0	1	0	0	0	13707	652	23	1	2124	1	RSPH6A	19	46318382	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	103224	46318382	12810601	719	144800											
MYPOP	339344	broad.mit.edu	37	chr19	46393902	46393902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggagatttccatcggccGcgccttttccgtgtagggaa	12	12	0	1	rs138971632		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:46393902G>A	uc002pdt.2	-	3	1266	c.1179C>T	c.(1177-1179)CGC>CGT	p.R393R		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Myb protein P42POP	393	Nuclear localization signal (By similarity).					nucleus	DNA binding				0						TCCATCGGCCGCGCCTTTTCC	0.652													A	46393902	G	A	46393902	2	1	280	1	0	0	0	0	0	0	0	1	10099	1074	38	1		1	MYPOP	19	46393902	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	75520	46393902	12735081	720	144801											
EHD2	30846	broad.mit.edu	37	chr19	48244374	48244374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcgaggagggctcggaCgacgaggccgagtgggtggt	22	8	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:48244374C>T	uc002phj.3	+	6	1567	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	EHD2_uc010xyu.1_Silent_p.D303D|EHD2_uc010xyv.1_Silent_p.D122D	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	439					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		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)		AGGGCTCGGACGACGAGGCCG	0.657													T	48244374	C	T	48244374	2	4	280	1	0	0	0	0	0	0	0	1	4978	535	19	1		1	EHD2	19	48244374	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1850472	48244374	10884609	721	144802											
CCDC114	93233	broad.mit.edu	37	chr19	48801351	48801351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcggccagggaggtgaAgctctggagagtgtgggagc	20	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:48801351A>G	uc002pir.2	-	12	1980	c.1297T>C	c.(1297-1299)TTC>CTC	p.F433L	CCDC114_uc002piq.2_Missense_Mutation_p.F242L|CCDC114_uc002pio.2_Missense_Mutation_p.F470L|CCDC114_uc002pis.1_Missense_Mutation_p.F113L	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	433										ovary(1)	1		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)		AGGGAGGTGAAGCTCTGGAGA	0.677													G	48801351	A	G	48801351	3	3	280	1	0	0	0	0	1	0	0	0	2751	72	3	3	727	3	CCDC114	19	48801351	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	556977	48801351	10327632	722	144803											
PPFIA3	8541	broad.mit.edu	37	chr19	49651942	49651942	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagtctacattatgggAttatgtgcctgaaacggctc	13	7	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:49651942A>C	uc002pmr.2	+	25	3363	c.3031A>C	c.(3031-3033)ATT>CTT	p.I1011L	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.I870L|PPFIA3_uc002pmt.2_Missense_Mutation_p.I150L|PPFIA3_uc002pmu.1_Missense_Mutation_p.I60L	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	1011	SAM 2.			I -> V (in Ref. 6; AAC26101).		cell surface|cytoplasm	protein binding			lung(1)	1		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)		ACATTATGGGATTATGTGCCT	0.582													C	49651942	A	C	49651942	3	2	280	1	0	0	0	0	1	0	0	0	12311	333	12	5	3125	5	PPFIA3	19	49651942	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	850591	49651942	9477041	723	144804											
SLC17A7	57030	broad.mit.edu	37	chr19	49934368	49934368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggatgctggcgtagcgCggggctatgtccaggtggtt	18	7	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:49934368C>T	uc002pnp.2	-	11	1465	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	SLC17A7_uc002pno.2_Silent_p.P93P	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	431	Cytoplasmic (Potential).				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			ovary(1)|pancreas(1)|skin(1)	3		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)		TGGCGTAGCGCGGGGCTATGT	0.607													T	49934368	C	T	49934368	2	4	280	1	0	0	0	0	0	0	0	1	14422	755	27	1		1	SLC17A7	19	49934368	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	282426	49934368	9194615	724	144805											
SPIB	6689	broad.mit.edu	37	chr19	50925742	50925742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtatcagtacccagatggcGtcttctatgacctggacagc	10	12	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:50925742G>A	uc002psd.2	+	3	89	c.64G>A	c.(64-66)GTC>ATC	p.V22I	SPIB_uc002pse.2_Missense_Mutation_p.V22I|SPIB_uc010ycc.1_Silent_p.A2A	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	22	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCAGATGGCGTCTTCTATGA	0.617													A	50925742	G	A	50925742	3	1	280	1	0	0	0	0	1	0	0	0	15049	1145	40	1	74	1	SPIB	19	50925742	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	991374	50925742	8203241	725	144806											
KLK8	11202	broad.mit.edu	37	chr19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagatgttggtatagaCgccaggtttgtcggacctcc	14	10	0	2	rs56296296	byFrequency	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:51499377C>T	uc002pur.1	-	6	900	c.721G>A	c.(721-723)GTC>ATC	p.V241I	KLK8_uc002puq.1_Missense_Mutation_p.V286I|KLK8_uc002pus.1_Missense_Mutation_p.V100I|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.V241I|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542													T	51499377	C	T	51499377	3	4	280	1	0	0	0	0	1	0	0	0	8410	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	573635	51499377	7629606	726	144807											
ZNF468	90333	broad.mit.edu	37	chr19	53344851	53344851	+	Frame_Shift_Del	DEL	T	T	-													tctaagtgaattatctgatgTttttttaagagtgagctgca							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:53344850_53344850GT>G	uc002qaf.3	-	3	848	c.697_697AC>C	c.(697-699)catfs	p.H233fs	ZNF468_uc002qae.3_Frame_Shift_Del_p.H180fs|ZNF468_uc021uzb.1_Frame_Shift_Del_p.H180fs	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	233					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)		ATTATCTGATGTTTTTTTAAG	0.353													-	53344851	T	-	53344851	7	5	280	1	0	1	0	1	0	0	0	0	17925	1722	60	0	876	0	ZNF468	19	53344851	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	1845474	53344851	5784132	727	144808											
LENG8	114823	broad.mit.edu	37	chr19	54968952	54968952	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaagtcgctgtgcatggtCaagtgccactggaaagagaa	12	7	1	1	rs142424676	by1000genomes	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:54968952C>T	uc002qfv.1	+	11	1791	c.1647C>T	c.(1645-1647)GTC>GTT	p.V549V	LENG8_uc002qfw.2_Silent_p.V586V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	549							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGTGCATGGTCAAGTGCCACT	0.537													T	54968952	C	T	54968952	2	4	280	1	0	0	0	0	0	0	0	1	8724	813	29	4		4	LENG8	19	54968952	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	1624101	54968952	4160031	728	144809											
ZNF264	9422	broad.mit.edu	37	chr19	57724326	57724326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaccataccaaagagaaAccccacaagtgtcttcactg	5	13	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:57724326A>C	uc002qob.2	+	4	2274	c.1861A>C	c.(1861-1863)ACC>CCC	p.T621P		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		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)		CCAAAGAGAAACCCCACAAGT	0.388													C	57724326	A	C	57724326	3	2	280	1	0	0	0	0	1	0	0	0	17801	43	2	5	1875	5	ZNF264	19	57724326	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2755374	57724326	1404657	729	144810											
ZNF544	27300	broad.mit.edu	37	chr19	58757689	58757689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgtgcttcgaggatgTggctatggcattcacacagg	13	8	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr19:58757689T>C	uc010euo.2	+	5	530	c.56T>C	c.(55-57)GTG>GCG	p.V19A	ZNF544_uc010eun.1_RNA|ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.V19A|ZNF544_uc010yhy.1_Missense_Mutation_p.V19A|ZNF544_uc002qrt.3_5'UTR|ZNF544_uc002qru.3_5'UTR|ZNF544_uc002qrv.2_RNA	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|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;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTCGAGGATGTGGCTATGGCA	0.527													C	58757689	T	C	58757689	3	2	280	1	0	0	0	0	1	0	0	0	17974	1696	59	3	62	3	ZNF544	19	58757689	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1033363	58757689	371294	730	144811											
VPS16	64601	broad.mit.edu	37	chr20	2841689	2841689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacctaccgacacctggCactcttcacagacacaggct	6	17	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:2841689C>T	uc002whe.2	+	7	752	c.704C>T	c.(703-705)GCA>GTA	p.A235V	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.A235V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank|VPS16_uc002whi.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	235					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						CGACACCTGGCACTCTTCACA	0.592													T	2841689	C	T	2841689	3	4	280	1	0	0	0	0	1	0	0	0	17190	710	25	2	730	2	VPS16	20	2841689	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08		2841689	60183831	731	144812											
PROKR2	128674	broad.mit.edu	37	chr20	5294808	5294808	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgataaagacaaagttacCgatgccgcagaccagcatga	10	10	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:5294808C>A	uc010zqw.1	-	1	208	c.208G>T	c.(208-210)GGT>TGT	p.G70C	PROKR2_uc010zqx.1_Missense_Mutation_p.G70C|PROKR2_uc010zqy.1_Missense_Mutation_p.G70C|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	70	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ACAAAGTTACCGATGCCGCAG	0.542										HNSCC(71;0.22)			A	5294808	C	A	5294808	3	1	280	1	0	0	0	0	1	0	0	0	12553	652	23	5	953	5	PROKR2	20	5294808	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2453119	5294808	57730712	732	144813											
SEL1L2	80343	broad.mit.edu	37	chr20	13856754	13856754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacggcagcattcccctctAaatacatctaggaagaaaaa	7	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:13856754A>G	uc010gcf.2	-	12	1116	c.1034T>C	c.(1033-1035)TTA>TCA	p.L345S	SEL1L2_uc002woq.3_Missense_Mutation_p.L206S|SEL1L2_uc010zrl.1_Missense_Mutation_p.L345S|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	345	Extracellular (Potential).|Sel1-like 6.					integral to membrane	binding			ovary(2)	2						ATTCCCCTCTAAATACATCTA	0.294													G	13856754	A	G	13856754	3	3	280	1	0	0	0	0	1	0	0	0	14011	372	13	3	1068	3	SEL1L2	20	13856754	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	8561946	13856754	49168766	733	144814											
KIF16B	55614	broad.mit.edu	37	chr20	16360254	16360254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacccgcaggagggattccCgaatgccttccaggtccctc	10	16	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:16360254C>A	uc002wpg.1	-	19	2551	c.2393G>T	c.(2392-2394)CGG>CTG	p.R798L	KIF16B_uc002wpe.1_Missense_Mutation_p.R180L|KIF16B_uc002wpf.1_Missense_Mutation_p.R180L|KIF16B_uc010gch.1_Missense_Mutation_p.R798L|KIF16B_uc010gci.1_Missense_Mutation_p.R798L|KIF16B_uc010gcj.1_Missense_Mutation_p.R809L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	798	Glu-rich.|Potential.				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			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GAGGGATTCCCGAATGCCTTC	0.577													A	16360254	C	A	16360254	3	1	280	1	0	0	0	0	1	0	0	0	8278	652	23	5	1592	5	KIF16B	20	16360254	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2503500	16360254	46665266	734	144815											
PYGB	5834	broad.mit.edu	37	chr20	25259058	25259058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtccaagttcggctgccGggaccctgtgagaacctgtt	13	12	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:25259058G>A	uc002wup.2	+	8	1068	c.959G>A	c.(958-960)CGG>CAG	p.R320Q		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	320					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TTCGGCTGCCGGGACCCTGTG	0.622													A	25259058	G	A	25259058	3	1	280	1	0	0	0	0	1	0	0	0	12860	1116	39	1	989	1	PYGB	20	25259058	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	8898804	25259058	37766462	735	144816											
NINL	22981	broad.mit.edu	37	chr20	25485646	25485646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggatctggctctctggggTgtcaaaggaggggctgcagg	18	9	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:25485646T>C	uc002wux.1	-	6	660	c.586A>G	c.(586-588)ACC>GCC	p.T196A	NINL_uc010gdn.1_Missense_Mutation_p.T196A|NINL_uc010gdo.1_Missense_Mutation_p.T36A|NINL_uc010ztf.1_Missense_Mutation_p.T212A	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	196	EF-hand 3.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CTCTCTGGGGTGTCAAAGGAG	0.637													C	25485646	T	C	25485646	3	2	280	1	0	0	0	0	1	0	0	0	10420	1696	59	3	3638	3	NINL	20	25485646	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	226588	25485646	37539874	736	144817											
MYH7B	57644	broad.mit.edu	37	chr20	33575629	33575629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgttcaggtggctggTgtctcggatcaaccagaccc	13	13	3	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:33575629T>C	uc002xbi.1	+	16	1546	c.1454T>C	c.(1453-1455)GTG>GCG	p.V485A	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	443	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGTGGCTGGTGTCTCGGATC	0.612													C	33575629	T	C	33575629	3	2	280	1	0	0	0	0	1	0	0	0	10040	1696	59	3	1516	3	MYH7B	20	33575629	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	8089983	33575629	29449891	737	144818											
CHD6	84181	broad.mit.edu	37	chr20	40118621	40118621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgatggactggatggTtttccctaggcccatctcat	11	9	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:40118621T>C	uc002xka.1	-	12	1655	c.1477A>G	c.(1477-1479)ACC>GCC	p.T493A	CHD6_uc002xkd.2_Missense_Mutation_p.T471A	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	493	ATP (Potential).|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			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GACTGGATGGTTTTCCCTAGG	0.428													C	40118621	T	C	40118621	3	2	280	1	0	0	0	0	1	0	0	0	3329	1725	60	3	6774	3	CHD6	20	40118621	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	6542992	40118621	22906899	738	144819											
HNF4A	3172	broad.mit.edu	37	chr20	43034862	43034862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcggaagaaccacatgTactcctgcaggtgaggagcc	14	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:43034862T>C	uc002xma.2	+	2	369	c.280T>C	c.(280-282)TAC>CAC	p.Y94H	HNF4A_uc010zwo.1_Silent_p.C84C|HNF4A_uc002xlt.2_Missense_Mutation_p.Y72H|HNF4A_uc002xlu.2_Missense_Mutation_p.Y72H|HNF4A_uc002xlv.2_Missense_Mutation_p.Y72H|HNF4A_uc002xly.2_Missense_Mutation_p.Y94H|HNF4A_uc002xlz.2_Missense_Mutation_p.Y94H|HNF4A_uc010ggq.2_Missense_Mutation_p.Y87H	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	94	Nuclear receptor.				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			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAACCACATGTACTCCTGCAG	0.532													C	43034862	T	C	43034862	3	2	280	1	0	0	0	0	1	0	0	0	7253	1638	57	3	339	3	HNF4A	20	43034862	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2916241	43034862	19990658	739	144820											
ADA	100	broad.mit.edu	37	chr20	43249007	43249007	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagctccctcttttcatcTtctgggaggaaactagattt	8	9	4	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:43249007T>G	uc002xmj.2	-	11	1139	c.1011A>C	c.(1009-1011)GAA>GAC	p.E337D	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	337			Missing (in ADASCID).		adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TCTTTTCATCTTCTGGGAGGA	0.418									Adenosine_Deaminase_Deficiency				G	43249007	T	G	43249007	3	3	280	1	0	0	0	0	1	0	0	0	230	1606	56	5	88	5	ADA	20	43249007	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	214145	43249007	19776513	740	144821											
ADA	100	broad.mit.edu	37	chr20	43251662	43251662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcacctcttttactacttCggccgagcccacctccccgg	6	20	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:43251662C>T	uc002xmj.2	-	7	792	c.664G>A	c.(664-666)GAA>AAA	p.E222K	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	222					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TTTACTACTTCGGCCGAGCCC	0.627									Adenosine_Deaminase_Deficiency				T	43251662	C	T	43251662	3	4	280	1	0	0	0	0	1	0	0	0	230	893	31	1	451	1	ADA	20	43251662	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2655	43251662	19773858	741	144822											
KCNS1	3787	broad.mit.edu	37	chr20	43726423	43726423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccgaactccttgccGccctggtcgcccagtgccac	12	17	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:43726423G>A	uc002xnc.2	-	4	1387	c.990C>T	c.(988-990)GGC>GGT	p.G330G	KCNS1_uc002xnd.2_Silent_p.G330G	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	330						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				ACTCCTTGCCGCCCTGGTCGC	0.632													A	43726423	G	A	43726423	2	1	280	1	0	0	0	0	0	0	0	1	8088	1074	38	1		1	KCNS1	20	43726423	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	474761	43726423	19299097	742	144823											
NCOA3	8202	broad.mit.edu	37	chr20	46276073	46276073	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacaaacacccccaagcaacTtagaatgcagcttcagcaga	7	13	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:46276073T>A	uc002xtk.2	+	18	3714	c.3509T>A	c.(3508-3510)CTT>CAT	p.L1170H	NCOA3_uc010ght.1_Missense_Mutation_p.L1165H|NCOA3_uc002xtl.2_Missense_Mutation_p.L1170H|NCOA3_uc002xtm.2_Missense_Mutation_p.L1170H|NCOA3_uc002xtn.2_Missense_Mutation_p.L1170H|NCOA3_uc010zyc.1_Missense_Mutation_p.L965H	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1170	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						CCCAAGCAACTTAGAATGCAG	0.493													A	46276073	T	A	46276073	3	1	280	1	0	0	0	0	1	0	0	0	10230	1609	56	5	3601	5	NCOA3	20	46276073	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	2549650	46276073	16749447	743	144824											
ARFGEF2	10564	broad.mit.edu	37	chr20	47570216	47570216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcacaaagcaaaccaAcaactcccgaaaaaacagat	6	12	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:47570216A>G	uc002xtx.3	+	6	879	c.727A>G	c.(727-729)ACA>GCA	p.T243A		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	243					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGCAAACCAACAACTCCCGA	0.473													G	47570216	A	G	47570216	3	3	280	1	0	0	0	0	1	0	0	0	853	43	2	3	749	3	ARFGEF2	20	47570216	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1294143	47570216	15455304	744	144825											
SALL4	57167	broad.mit.edu	37	chr20	50407791	50407791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaccacagacagagcacaCgaagggtctctctccagtgt	10	12	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:50407791C>T	uc002xwh.3	-	2	1332	c.1231G>A	c.(1231-1233)GTG>ATG	p.V411M	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	411	C2H2-type 2.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ACAGAGCACACGAAGGGTCTC	0.552													T	50407791	C	T	50407791	3	4	280	1	0	0	0	0	1	0	0	0	13813	536	19	1	1942	1	SALL4	20	50407791	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	2837575	50407791	12617729	745	144826											
TSHZ2	128553	broad.mit.edu	37	chr20	51870590	51870590	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcagctcggtgcagttgtAccgacagagcagcaagatgt	13	9	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:51870590A>G	uc002xwo.2	+	2	1549	c.593A>G	c.(592-594)TAC>TGC	p.Y198C		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	198				Y -> C (in Ref. 2; CAE45871).	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GTGCAGTTGTACCGACAGAGC	0.572													G	51870590	A	G	51870590	3	3	280	1	0	0	0	0	1	0	0	0	16621	391	14	3	599	3	TSHZ2	20	51870590	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1462799	51870590	11154930	746	144827											
TSHZ2	128553	broad.mit.edu	37	chr20	51872673	51872673	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctaagtttacgggactctcAatgaccactatcagtcactg	7	11	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:51872673A>T	uc002xwo.2	+	2	3632	c.2676A>T	c.(2674-2676)TCA>TCT	p.S892S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	892	Homeobox; atypical.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CGGGACTCTCAATGACCACTA	0.498													T	51872673	A	T	51872673	2	4	280	1	0	0	0	0	0	0	0	1	16621	117	5	5		5	TSHZ2	20	51872673	Silent	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	2083	51872673	11152847	747	144828											
DOK5	55816	broad.mit.edu	37	chr20	53205314	53205314	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccttggagagcctgacttActggccactggggttgagag	15	9	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:53205314A>C	uc002xwy.2	+	4	598	c.378A>C	c.(376-378)TTA>TTC	p.L126F	DOK5_uc010gin.2_Missense_Mutation_p.L18F|DOK5_uc002xwz.2_Missense_Mutation_p.Y10S	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	126							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGCCTGACTTACTGGCCACTG	0.423													C	53205314	A	C	53205314	3	2	280	1	0	0	0	0	1	0	0	0	4700	388	14	5	392	5	DOK5	20	53205314	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	1332641	53205314	9820206	748	144829											
CDH4	1002	broad.mit.edu	37	chr20	60485530	60485530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtggtcgcaaacctcaCggtgatggaccgagatcagc	13	12	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:60485530C>T	uc002ybn.1	+	9	1255	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	CDH4_uc002ybp.1_Missense_Mutation_p.T340M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	414	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAAACCTCACGGTGATGGAC	0.542													T	60485530	C	T	60485530	3	4	280	1	0	0	0	0	1	0	0	0	3112	536	19	1	1275	1	CDH4	20	60485530	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	7280216	60485530	2539990	749	144830											
DIDO1	11083	broad.mit.edu	37	chr20	61542343	61542343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggacgccctccacagTgtcactggcctcggagccca	13	16	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:61542343T>C	uc002ydr.1	-	3	886	c.622A>G	c.(622-624)ACT>GCT	p.T208A	DIDO1_uc002yds.1_Missense_Mutation_p.T208A|DIDO1_uc002ydt.1_Missense_Mutation_p.T208A|DIDO1_uc002ydu.1_Missense_Mutation_p.T208A|DIDO1_uc002ydv.1_Missense_Mutation_p.T208A|DIDO1_uc002ydw.1_Missense_Mutation_p.T208A|DIDO1_uc002ydx.1_Missense_Mutation_p.T208A|DIDO1_uc011aao.1_Missense_Mutation_p.T208A	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	208					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CCCTCCACAGTGTCACTGGCC	0.632													C	61542343	T	C	61542343	3	2	280	1	0	0	0	0	1	0	0	0	4522	1696	59	3	6286	3	DIDO1	20	61542343	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1056813	61542343	1483177	750	144831											
SLC17A9	63910	broad.mit.edu	37	chr20	61588850	61588850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggggctccatcacggcCgtcaccccactgctcgccca	10	20	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:61588850C>T	uc002yea.3	+	3	499	c.315C>T	c.(313-315)GCC>GCT	p.A105A	SLC17A9_uc002ydz.3_Silent_p.A99A|SLC17A9_uc011aap.1_Silent_p.A125A	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	105	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						CCATCACGGCCGTCACCCCAC	0.627													T	61588850	C	T	61588850	2	4	280	1	0	0	0	0	0	0	0	1	14424	639	23	1		1	SLC17A9	20	61588850	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	46507	61588850	1436670	751	144832											
KCNQ2	3785	broad.mit.edu	37	chr20	62046342	62046342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagctccagctcttgggcAccttgctggggctgtcctcg	13	14	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:62046342A>G	uc002yey.1	-	13	1616	c.1439T>C	c.(1438-1440)GTG>GCG	p.V480A	KCNQ2_uc002yez.1_Missense_Mutation_p.V450A|KCNQ2_uc002yfa.1_Missense_Mutation_p.V462A|KCNQ2_uc002yfb.1_Missense_Mutation_p.V452A	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	480	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTCTTGGGCACCTTGCTGGG	0.706													G	62046342	A	G	62046342	3	3	280	1	0	0	0	0	1	0	0	0	8083	159	6	3	1199	3	KCNQ2	20	62046342	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	457492	62046342	979178	752	144833											
DNAJC5	80331	broad.mit.edu	37	chr20	62559774	62559774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgggttggacaagaacGcaacctcagatgacattaaa	9	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr20:62559774G>A	uc002yhf.2	+	2	246	c.76G>A	c.(76-78)GCA>ACA	p.A26T	DNAJC5_uc002yhg.1_Missense_Mutation_p.A26T|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	26	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGACAAGAACGCAACCTCAGA	0.502													A	62559774	G	A	62559774	3	1	280	1	0	0	0	0	1	0	0	0	4650	1087	38	1	78	1	DNAJC5	20	62559774	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	513432	62559774	465746	753	144834											
NCAM2	4685	broad.mit.edu	37	chr21	22910175	22910175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcttccagaaaattgcCtttaaaggaagaagatggga	9	5	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:22910175C>T	uc002yld.1	+	18	2660	c.2411C>T	c.(2410-2412)CCT>CTT	p.P804L	NCAM2_uc011acb.1_Missense_Mutation_p.P662L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	804	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		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)		AGAAAATTGCCTTTAAAGGAA	0.318													T	22910175	C	T	22910175	3	4	280	1	0	0	0	0	1	0	0	0	10203	681	24	4	2481	4	NCAM2	21	22910175	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08		22910175	25219720	754	144835											
JAM2	58494	broad.mit.edu	37	chr21	27084687	27084687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctaaagccacgacaatgaGtgaaaatgtgagtatcttta	8	6	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:27084687G>A	uc002ylp.1	+	9	1402	c.857G>A	c.(856-858)AGT>AAT	p.S286N	JAM2_uc011ace.1_3'UTR|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.S250N|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.S282N|JAM2_uc010gli.1_Intron	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	286	Cytoplasmic (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0						ACGACAATGAGTGAAAATGTG	0.313													A	27084687	G	A	27084687	3	1	280	1	0	0	0	0	1	0	0	0	7943	1029	36	4	891	4	JAM2	21	27084687	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4174512	27084687	21045208	755	144836											
RNF160	26046	broad.mit.edu	37	chr21	30309004	30309004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttccgaagatacatggAatacaaagcccgaagctggt	10	8	0	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:30309004A>G	uc002ymr.2	-	26	4649	c.4636T>C	c.(4636-4638)TCC>CCC	p.S1546P		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1500							ligase activity|zinc ion binding				0						AGATACATGGAATACAAAGCC	0.378													G	30309004	A	G	30309004	3	3	280	1	0	0	0	0	1	0	0	0	13455	246	9	3	822	3	RNF160	21	30309004	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	3224317	30309004	17820891	756	144837											
B3GALT5	10317	broad.mit.edu	37	chr21	41033164	41033164	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgttttctggcgacgtggcGagtcaggtgtacaatgtctc	14	8	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:41033164G>A	uc002yyb.1	+	5	1270	c.678G>A	c.(676-678)GCG>GCA	p.A226A	B3GALT5_uc002yye.2_Silent_p.A226A|B3GALT5_uc002yyi.1_Silent_p.A226A|B3GALT5_uc002yyj.1_Silent_p.A226A|B3GALT5_uc002yyk.1_Silent_p.A226A|B3GALT5_uc002yyl.1_Silent_p.A226A|B3GALT5_uc002yym.1_Silent_p.A226A	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	226	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				GCGACGTGGCGAGTCAGGTGT	0.522													A	41033164	G	A	41033164	2	1	280	1	0	0	0	0	0	0	0	1	1250	1045	37	1		1	B3GALT5	21	41033164	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	10724160	41033164	7096731	757	144838											
DSCAM	1826	broad.mit.edu	37	chr21	41719765	41719765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatttcaccattgcggtAccaggagagttcctggtcct	12	10	1	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:41719765A>G	uc002yyq.1	-	6	1494	c.1042T>C	c.(1042-1044)TAC>CAC	p.Y348H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	348	Extracellular (Potential).|Ig-like C2-type 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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCATTGCGGTACCAGGAGAGT	0.502													G	41719765	A	G	41719765	3	3	280	1	0	0	0	0	1	0	0	0	4768	391	14	3	5108	3	DSCAM	21	41719765	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	686601	41719765	6410130	758	144839											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971299	45971299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtccacctgccaggagtTggtgcaggcgctggagcaga	16	11	0	1	rs233240	by1000genomes	TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:45971299T>C	uc002zfi.1	-	1	90	c.43A>G	c.(43-45)AAC>GAC	p.N15D	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	15						keratin filament		p.N15D(1)		large_intestine(1)	1						TGCCAGGAGTTGGTGCAGGCG	0.597													C	45971299	T	C	45971299	3	2	280	1	0	0	0	0	1	0	0	0	8509	1812	63	3	728	3	KRTAP10-2	21	45971299	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4251534	45971299	2158596	759	144840											
PCNT	5116	broad.mit.edu	37	chr21	47848469	47848469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacaagcgcagaggcgcGcgggagccagcaggagcacc	17	13	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:47848469G>A	uc002zji.3	+	35	7762	c.7655G>A	c.(7654-7656)CGC>CAC	p.R2552H	PCNT_uc002zjj.2_Missense_Mutation_p.R2434H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2552	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GCAGAGGCGCGCGGGAGCCAG	0.692													A	47848469	G	A	47848469	3	1	280	1	0	0	0	0	1	0	0	0	11590	1087	38	1	7793	1	PCNT	21	47848469	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1877170	47848469	281426	760	144841											
DIP2A	23181	broad.mit.edu	37	chr21	47961668	47961668	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggtggttttattttctaGgccacctgatctgggaggac	12	8	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr21:47961668G>T	uc002zjo.2	+	18	2220	c.2037_splice	c.e18-1	p.R679_splice	DIP2A_uc011afy.1_Splice_Site_p.R615_splice|DIP2A_uc011afz.1_Splice_Site_p.R675_splice|DIP2A_uc002zjl.2_Splice_Site_p.R679_splice|DIP2A_uc002zjm.2_Splice_Site_p.R679_splice|DIP2A_uc010gql.2_Splice_Site_p.R636_splice|DIP2A_uc002zjn.2_Splice_Site_p.R679_splice|DIP2A_uc002zjp.1_Splice_Site_p.R424_splice|DIP2A_uc002zjq.2_Splice_Site_p.R71_splice	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a						multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	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)		TTATTTTCTAGGCCACCTGAT	0.493													T	47961668	G	T	47961668	5	4	280	1	0	0	0	0	0	0	1	0	4527	1014	35	5	2106	5	DIP2A	21	47961668	Splice_Site	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	113199	47961668	168227	761	144842											
TOP3B	8940	broad.mit.edu	37	chr22	22323108	22323108	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatgagagagctgtcTaaatcaccgtatttcccctg	10	9	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:22323108T>C	uc002zvs.2	-	7	1056	c.621A>G	c.(619-621)TTA>TTG	p.L207L	TOP3B_uc010gtm.1_5'Flank|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Silent_p.L207L|TOP3B_uc002zvt.3_Silent_p.L207L	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	207					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GAGAGCTGTCTAAATCACCGT	0.458													C	22323108	T	C	22323108	2	2	280	1	0	0	0	0	0	0	0	1	16365	1519	53	3		3	TOP3B	22	22323108	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08		22323108	28981458	762	144843											
MYO18B	84700	broad.mit.edu	37	chr22	26423589	26423589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagcggagagagccagggaCggggaggaaagacgacgatg	20	7	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:26423589C>T	uc003abz.1	+	43	7899	c.7649C>T	c.(7648-7650)ACG>ATG	p.T2550M	MYO18B_uc003aca.1_Missense_Mutation_p.T2431M|MYO18B_uc010guy.1_Missense_Mutation_p.T2432M|MYO18B_uc010guz.1_Missense_Mutation_p.T2430M|MYO18B_uc011aka.1_Missense_Mutation_p.T1704M|MYO18B_uc011akb.1_Missense_Mutation_p.T2063M|MYO18B_uc010gva.1_Missense_Mutation_p.T533M|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2550						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GAGCCAGGGACGGGGAGGAAA	0.552													T	26423589	C	T	26423589	3	4	280	1	0	0	0	0	1	0	0	0	10066	536	19	1	7815	1	MYO18B	22	26423589	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	4100481	26423589	24880977	763	144844											
NEFH	4744	broad.mit.edu	37	chr22	29886141	29886141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtgaaagtcaaagagCccccaaagaaggcagaggaa	14	7	1	4			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:29886141C>T	uc003afo.2	+	4	2583	c.2512C>T	c.(2512-2514)CCC>TCC	p.P838S	NEFH_uc003afp.2_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	844	Tail.				cell death|nervous system development	neurofilament					0						AGTCAAAGAGCCCCCAAAGAA	0.542													T	29886141	C	T	29886141	3	4	280	1	0	0	0	0	1	0	0	0	10314	739	26	2	2526	2	NEFH	22	29886141	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	3462552	29886141	21418425	764	144845											
MTMR3	8897	broad.mit.edu	37	chr22	30415734	30415734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaacatcttgcaggagGccaccaaagaggagagtgga	15	7	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:30415734G>A	uc003agv.3	+	17	2414	c.2086G>A	c.(2086-2088)GCC>ACC	p.A696T	MTMR3_uc003agu.3_Missense_Mutation_p.A696T|MTMR3_uc003agw.3_Missense_Mutation_p.A696T	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	696					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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTTGCAGGAGGCCACCAAAGA	0.587													A	30415734	G	A	30415734	3	1	280	1	0	0	0	0	1	0	0	0	9945	1203	42	2	2144	2	MTMR3	22	30415734	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	529593	30415734	20888832	765	144846											
MB	4151	broad.mit.edu	37	chr22	36006983	36006983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatgcgactgtgccaggGgcttaatctctgcctcatga	12	11	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:36006983G>A	uc003anz.2	-	2	346	c.266C>T	c.(265-267)CCC>CTC	p.P89L	MB_uc003aoa.2_Missense_Mutation_p.P89L|MB_uc003aob.2_Missense_Mutation_p.P89L	NM_005368	NP_005359	P02144	MYG_HUMAN	myoglobin	89							heme binding|oxygen transporter activity				0						CTGTGCCAGGGGCTTAATCTC	0.433													A	36006983	G	A	36006983	3	1	280	1	0	0	0	0	1	0	0	0	9341	1232	43	4	206	4	MB	22	36006983	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	5591249	36006983	15297583	766	144847											
XRCC6	2547	broad.mit.edu	37	chr22	42052906	42052906	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatttatctcctttcttcaGgcttccagctggtcttttta	5	10	4	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:42052906G>T	uc003bao.1	+	10	1362	c.1292_splice	c.e10-1	p.G431_splice	XRCC6_uc003bap.1_Splice_Site_p.G390_splice|XRCC6_uc011apc.1_Splice_Site_p.G381_splice|XRCC6_uc003baq.1_Splice_Site_p.G431_splice|XRCC6_uc003bar.1_Splice_Site_p.G431_splice|XRCC6_uc003bas.1_Splice_Site_p.G381_splice	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit						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			skin(2)|ovary(1)|lung(1)|kidney(1)	5						CCTTTCTTCAGGCTTCCAGCT	0.318								Direct_reversal_of_damage|NHEJ					T	42052906	G	T	42052906	5	4	280	1	0	0	0	0	0	0	1	0	17454	1014	35	5	1325	5	XRCC6	22	42052906	Splice_Site	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	6045923	42052906	9251660	767	144848											
ATXN10	25814	broad.mit.edu	37	chr22	46114329	46114329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctctttctgaaaagcccGgaattggtacaagccatgtt	9	10	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:46114329G>A	uc003bgm.1	+	6	941	c.684G>A	c.(682-684)CCG>CCA	p.P228P	ATXN10_uc011aqt.1_Silent_p.P164P|ATXN10_uc003bgn.1_Silent_p.P39P	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	228					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TGAAAAGCCCGGAATTGGTAC	0.413													A	46114329	G	A	46114329	2	1	280	1	0	0	0	0	0	0	0	1	1210	1103	39	1		1	ATXN10	22	46114329	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	4061423	46114329	5190237	768	144849											
PLXNB2	23654	broad.mit.edu	37	chr22	50718919	50718919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccccgcccatgtgcaccTgcgcagcatcagcttggggt	13	15	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chr22:50718919T>C	uc003bkv.3	-	25	4280	c.4174A>G	c.(4174-4176)AGG>GGG	p.R1392G	PLXNB2_uc003bkt.1_Missense_Mutation_p.R184G|PLXNB2_uc003bku.1_Missense_Mutation_p.R377G	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1392	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	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)		cATGTGCACCTGCGCAGCATC	0.547													C	50718919	T	C	50718919	3	2	280	1	0	0	0	0	1	0	0	0	12124	1594	55	3	1394	3	PLXNB2	22	50718919	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4604590	50718919	585647	769	144850											
GPR143	4935	broad.mit.edu	37	chrX	9716642	9716642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggtagtagagcatggCggctccctccacacagagca	14	11	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:9716642C>T	uc004cst.1	-	4	580	c.580G>A	c.(580-582)GCC>ACC	p.A194T		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	174	Extracellular (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				TAGAGCATGGCGGCTCCCTCC	0.587													T	9716642	C	T	9716642	3	4	280	1	0	0	0	0	1	0	0	0	6651	768	27	1	718	1	GPR143	23	9716642	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08		9716642	145553918	770	144851											
MAP3K15	389840	broad.mit.edu	37	chrX	19391803	19391803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggccaggacgacaccGcggggaccttctgtaggggg	19	11	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:19391803G>A	uc004czk.1	-	22	2846	c.1209C>T	c.(1207-1209)CGC>CGT	p.R403R	MAP3K15_uc004czj.1_Silent_p.R363R|MAP3K15_uc004czi.1_5'Flank	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	928							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					GGACGACACCGCGGGGACCTT	0.677													A	19391803	G	A	19391803	2	1	280	1	0	0	0	0	0	0	0	1	9249	1074	38	1		1	MAP3K15	23	19391803	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	9675161	19391803	135878757	771	144852											
DMD	1756	broad.mit.edu	37	chrX	31893303	31893303	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagcaaaaagttccctAccttaacgtcaaatggtcct	5	10	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:31893303A>T	uc004dda.1	-	48	7342	c.7098_splice	c.e48+1	p.Q2366_splice	DMD_uc004dcr.1_Splice_Site|DMD_uc004dcs.1_Splice_Site|DMD_uc004dct.1_Splice_Site|DMD_uc004dcu.1_Splice_Site|DMD_uc004dcv.1_Splice_Site|DMD_uc004dcw.2_Splice_Site_p.Q1022_splice|DMD_uc004dcx.2_Splice_Site_p.Q1025_splice|DMD_uc004dcz.2_Splice_Site_p.Q2243_splice|DMD_uc004dcy.1_Splice_Site_p.Q2362_splice|DMD_uc004ddb.1_Splice_Site_p.Q2358_splice	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform						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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				AAAGTTCCCTACCTTAACGTC	0.294													T	31893303	A	T	31893303	5	4	280	1	0	0	0	0	0	0	1	0	4580	406	14	5		5	DMD	23	31893303	Splice_Site	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	12501500	31893303	123377257	772	144853											
DMD	1756	broad.mit.edu	37	chrX	32328290	32328290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccacttctaatagggctTgtgagacatgagtgatttca	10	7	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:32328290T>C	uc004dda.1	-	42	6270	c.6026A>G	c.(6025-6027)CAA>CGA	p.Q2009R	DMD_uc004dcw.2_Missense_Mutation_p.Q665R|DMD_uc004dcx.2_Missense_Mutation_p.Q668R|DMD_uc004dcz.2_Missense_Mutation_p.Q1886R|DMD_uc004dcy.1_Missense_Mutation_p.Q2005R|DMD_uc004ddb.1_Missense_Mutation_p.Q2001R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2009					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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)				TAATAGGGCTTGTGAGACATG	0.413													C	32328290	T	C	32328290	3	2	280	1	0	0	0	0	1	0	0	0	4580	1812	63	3	5331	3	DMD	23	32328290	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	434987	32328290	122942270	773	144854											
AKAP4	8852	broad.mit.edu	37	chrX	49957452	49957452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaggggttctcattaaGcagtttctgaatcagcatta	9	6	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:49957452G>A	uc004dow.1	-	5	2036	c.1912C>T	c.(1912-1914)CTT>TTT	p.L638F	AKAP4_uc004dov.1_Missense_Mutation_p.L255F|AKAP4_uc010njp.1_Missense_Mutation_p.L460F|AKAP4_uc004dou.1_Missense_Mutation_p.L629F	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	638					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TTCTCATTAAGCAGTTTCTGA	0.478													A	49957452	G	A	49957452	3	1	280	1	0	0	0	0	1	0	0	0	453	971	34	2	660	2	AKAP4	23	49957452	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	17629162	49957452	105313108	774	144855											
CCNB3	85417	broad.mit.edu	37	chrX	50055619	50055619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaatcttcagttacaTgaaagagagagaggtattta	10	4	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:50055619T>C	uc004dox.3	+	7	3708	c.3410T>C	c.(3409-3411)ATG>ACG	p.M1137T	CCNB3_uc004doy.2_Missense_Mutation_p.M1137T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Missense_Mutation_p.M29T	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1137					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TTCAGTTACATGAAAGAGAGA	0.418													C	50055619	T	C	50055619	3	2	280	1	0	0	0	0	1	0	0	0	2914	1464	51	3	3428	3	CCNB3	23	50055619	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	98167	50055619	105214941	775	144856											
BMP15	9210	broad.mit.edu	37	chrX	50659507	50659507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccctcctgtgtcccgtAtaagtatgttccaattagtg	9	12	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:50659507A>G	uc011mnw.1	+	2	1079	c.1079A>G	c.(1078-1080)TAT>TGT	p.Y360C		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	360					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)					TGTGTCCCGTATAAGTATGTT	0.458													G	50659507	A	G	50659507	3	3	280	1	0	0	0	0	1	0	0	0	1458	449	16	3	1085	3	BMP15	23	50659507	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	603888	50659507	104611053	776	144857											
ITIH5L	347365	broad.mit.edu	37	chrX	54784484	54784484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttcttggtagaggcagTagtagttgaggataagtaga	13	4	2	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:54784484T>C	uc004dtj.2	-	8	2053	c.2023A>G	c.(2023-2025)ACT>GCT	p.T675A		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	675					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GTAGAGGCAGTAGTAGTTGAG	0.512													C	54784484	T	C	54784484	3	2	280	1	0	0	0	0	1	0	0	0	7908	1638	57	3	1942	3	ITIH5L	23	54784484	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4124977	54784484	100486076	777	144858											
LAS1L	81887	broad.mit.edu	37	chrX	64738227	64738227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagacttcccaatgggggAggcctcagagccctcctgca	13	13	1	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:64738227A>G	uc004dwa.1	-	12	1639	c.1567T>C	c.(1567-1569)TCC>CCC	p.S523P	LAS1L_uc004dwc.1_Missense_Mutation_p.S506P|LAS1L_uc004dwd.1_Missense_Mutation_p.S464P|LAS1L_uc004dvy.1_Missense_Mutation_p.S36P|LAS1L_uc004dvz.1_Missense_Mutation_p.S36P	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	523						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						CCAATGGGGGAGGCCTCAGAG	0.577													G	64738227	A	G	64738227	3	3	280	1	0	0	0	0	1	0	0	0	8636	304	11	3	649	3	LAS1L	23	64738227	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	9953743	64738227	90532333	778	144859											
STARD8	9754	broad.mit.edu	37	chrX	67941391	67941391	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagtcctccccaaggaTcagtggttggcagcagcaca	10	14	2	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:67941391T>A	uc004dxa.2	+	9	2394	c.2022T>A	c.(2020-2022)GAT>GAA	p.D674E	STARD8_uc004dxb.2_Missense_Mutation_p.D754E|STARD8_uc004dxc.3_Missense_Mutation_p.D674E	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	674	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						TCCCCAAGGATCAGTGGTTGG	0.562													A	67941391	T	A	67941391	3	1	280	1	0	0	0	0	1	0	0	0	15262	1432	50	5	2300	5	STARD8	23	67941391	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	3203164	67941391	87329169	779	144860											
P2RY4	5030	broad.mit.edu	37	chrX	69478742	69478742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacagctatggtgcGgagagagcggaggcgagaag	17	9	0	2	rs149438352		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:69478742G>A	uc004dxz.1	-	1	913	c.733C>T	c.(733-735)CGC>TGC	p.R245C		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	245	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						GCTATGGTGCGGAGAGAGCGG	0.577													A	69478742	G	A	69478742	3	1	280	1	0	0	0	0	1	0	0	0	11353	1116	39	1	368	1	P2RY4	23	69478742	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	1537351	69478742	85791818	780	144861											
KIAA2022	340533	broad.mit.edu	37	chrX	73960013	73960013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttcccttacatttcTcatctctcagggccttggag	8	12	3	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:73960013T>C	uc004eby.2	-	3	4996	c.4379A>G	c.(4378-4380)GAG>GGG	p.E1460G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1460					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			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CTTACATTTCTCATCTCTCAG	0.433													C	73960013	T	C	73960013	3	2	280	1	0	0	0	0	1	0	0	0	8269	1551	54	3	179	3	KIAA2022	23	73960013	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	4481271	73960013	81310547	781	144862											
ATRX	546	broad.mit.edu	37	chrX	76920173	76920173	+	Frame_Shift_Del	DEL	T	T	-													ttcattttgttttccagttcTttttttcccttcttctggct							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:76920172_76920172CT>C	uc004ecp.4	-	10	4137	c.3905_3905AG>G	c.(3904-3906)agafs	p.R1302fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.R1264fs|ATRX_uc004eco.4_Frame_Shift_Del_p.R1087fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.R1234fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1302					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1302fs*7(2)|p.?(1)|p.R1302fs*44(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)	TTTTCCAGTTCTTTTTTTCCC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76920173	T	-	76920173	7	5	280	1	0	1	0	1	0	0	0	0	1208	1617	56	0	3674	0	ATRX	23	76920173	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	2960160	76920173	78350387	782	144863											
P2RY10	27334	broad.mit.edu	37	chrX	78216881	78216881	+	Frame_Shift_Del	DEL	T	T	-													atcgcactgtatttccacccTttttgcctgtgccttgcaag					rs34553009		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:78216880_78216880CT>C	uc022bzl.1	+	0	863	c.863_863CT>C	c.(862-864)cctfs	p.P288fs	P2RY10_uc004ede.3_Frame_Shift_Del_p.P288fs|P2RY10_uc004edf.3_Frame_Shift_Del_p.P288fs	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	288						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TATTTCCACCCTTTTTGCCTG	0.428													-	78216881	T	-	78216881	7	5	280	1	0	1	0	1	0	0	0	0	11347	1596	56	0	866	0	P2RY10	23	78216881	Frame_Shift_Del	DEL	T	TCGA-HU-A4H4-01A-21D-A25D-08	1296708	78216881	77053679	783	144864											
PCDH11X	27328	broad.mit.edu	37	chrX	91133620	91133620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcactgaagcaccagTgaccccaaatactgagatag	8	11	0	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:91133620T>C	uc004efk.1	+	2	3226	c.2381T>C	c.(2380-2382)GTG>GCG	p.V794A	PCDH11X_uc004efl.1_Missense_Mutation_p.V794A|PCDH11X_uc004efo.1_Missense_Mutation_p.V794A|PCDH11X_uc010nmv.1_Missense_Mutation_p.V794A|PCDH11X_uc004efm.1_Missense_Mutation_p.V794A|PCDH11X_uc004efn.1_Missense_Mutation_p.V794A|PCDH11X_uc004efh.1_Missense_Mutation_p.V794A|PCDH11X_uc004efj.1_Missense_Mutation_p.V794A	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	794	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GAAGCACCAGTGACCCCAAAT	0.448													C	91133620	T	C	91133620	3	2	280	1	0	0	0	0	1	0	0	0	11508	1696	59	3	2387	3	PCDH11X	23	91133620	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	12916739	91133620	64136940	784	144865											
PCDH19	57526	broad.mit.edu	37	chrX	99551676	99551676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctttcccaaaggttgCgaaagtccgtttggtggggc	13	9	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:99551676C>T	uc010nmz.2	-	6	4722	c.3046G>A	c.(3046-3048)GCA>ACA	p.A1016T	PCDH19_uc004efw.3_Missense_Mutation_p.A968T|PCDH19_uc004efx.3_Missense_Mutation_p.A969T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1016	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CCAAAGGTTGCGAAAGTCCGT	0.562													T	99551676	C	T	99551676	3	4	280	1	0	0	0	0	1	0	0	0	11514	768	27	1	404	1	PCDH19	23	99551676	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	8418056	99551676	55718884	785	144866											
TRMT2B	79979	broad.mit.edu	37	chrX	100297270	100297270	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgggactcttctcttaagGcctgccatccaaagaacaca	8	12	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:100297270G>T	uc004egq.2	-	2	308	c.9C>A	c.(7-9)GGC>GGA	p.G3G	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.G3G|TRMT2B_uc004egs.2_Silent_p.G3G|TRMT2B_uc004egt.2_Silent_p.G3G|TRMT2B_uc004egu.2_5'UTR|TRMT2B_uc004egv.2_Silent_p.G3G	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	3							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						TTCTCTTAAGGCCTGCCATCC	0.473													T	100297270	G	T	100297270	2	4	280	1	0	0	0	0	0	0	0	1	16563	1190	42	5		5	TRMT2B	23	100297270	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	745594	100297270	54973290	786	144867											
TAF7L	54457	broad.mit.edu	37	chrX	100536708	100536708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaatagcatgtaactaacCtttttttgtgttttccggaa	6	7	0	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:100536708C>T	uc004ehb.2	-	6	732	c.720G>A	c.(718-720)AAG>AAA	p.K240K	TAF7L_uc004eha.2_Silent_p.K154K|TAF7L_uc004ehc.1_Silent_p.K154K	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	240					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						TGTAACTAACCTTTTTTTGTG	0.363													T	100536708	C	T	100536708	2	4	280	1	0	0	0	0	0	0	0	1	15530	695	24	4		4	TAF7L	23	100536708	Silent	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	239438	100536708	54733852	787	144868											
GPRASP1	9737	broad.mit.edu	37	chrX	101910109	101910109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggcagatgaagccagcaTagagtccagtctacaagtgg	12	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:101910109T>C	uc004ejj.3	+	5	2069	c.1268T>C	c.(1267-1269)ATA>ACA	p.I423T	GPRASP1_uc004eji.3_Missense_Mutation_p.I423T|GPRASP1_uc010nod.2_Missense_Mutation_p.I423T	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	423						cytoplasm	protein binding			ovary(1)|lung(1)	2						GAAGCCAGCATAGAGTCCAGT	0.547													C	101910109	T	C	101910109	3	2	280	1	0	0	0	0	1	0	0	0	6722	1406	49	3	1270	3	GPRASP1	23	101910109	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	1373401	101910109	53360451	788	144869											
GPRASP2	114928	broad.mit.edu	37	chrX	101970627	101970627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatccaagcaagaagcctAtgttgattcctggtctggat	10	9	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:101970627A>G	uc004ejk.2	+	4	2164	c.830A>G	c.(829-831)TAT>TGT	p.Y277C	GPRASP2_uc004ejl.2_Missense_Mutation_p.Y277C|GPRASP2_uc004ejm.2_Missense_Mutation_p.Y277C|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	277						cytoplasm	protein binding			ovary(1)	1						CAAGAAGCCTATGTTGATTCC	0.522													G	101970627	A	G	101970627	3	3	280	1	0	0	0	0	1	0	0	0	6723	449	16	3	832	3	GPRASP2	23	101970627	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	60518	101970627	53299933	789	144870											
BHLHB9	80823	broad.mit.edu	37	chrX	102004550	102004550	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaattaatgaaaaaaaTaggcccaaggactggtctga	9	5	1	3			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:102004550T>C	uc010nog.2	+	4	1198	c.627T>C	c.(625-627)AAT>AAC	p.N209N	BHLHB9_uc011mrq.1_Silent_p.N209N|BHLHB9_uc011mrr.1_Silent_p.N209N|BHLHB9_uc011mrs.1_Silent_p.N209N|BHLHB9_uc011mrt.1_Silent_p.N209N|BHLHB9_uc004ejo.2_Silent_p.N209N|BHLHB9_uc011mru.1_Silent_p.N209N|BHLHB9_uc011mrv.1_Silent_p.N209N	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	209						cytoplasm|nucleus	binding			ovary(2)	2						ATGAAAAAAATAGGCCCAAGG	0.463													C	102004550	T	C	102004550	2	2	280	1	0	0	0	0	0	0	0	1	1420	1403	49	3		3	BHLHB9	23	102004550	Silent	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	33923	102004550	53266010	790	144871											
TCEAL1	9338	broad.mit.edu	37	chrX	102885195	102885195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaatttagaggggacatAcatggcagaaatttaagcaa	10	7	0	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:102885195A>G	uc004eks.2	+	3	525	c.351A>G	c.(349-351)ATA>ATG	p.I117M	TCEAL1_uc004ekt.2_Missense_Mutation_p.I117M|TCEAL1_uc004eku.2_Missense_Mutation_p.I117M	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	115					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAGGGGACATACATGGCAGAA	0.438													G	102885195	A	G	102885195	3	3	280	1	0	0	0	0	1	0	0	0	15667	381	14	3	353	3	TCEAL1	23	102885195	Missense_Mutation	SNP	A	TCGA-HU-A4H4-01A-21D-A25D-08	880645	102885195	52385365	791	144872											
CHRDL1	91851	broad.mit.edu	37	chrX	109922617	109922617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcctcaaacatcctcTtggagatcttctcaatatgg	7	11	4	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:109922617T>C	uc004eou.3	-	11	1542	c.1193A>G	c.(1192-1194)AAG>AGG	p.K398R	CHRDL1_uc004eov.2_Missense_Mutation_p.K387R|CHRDL1_uc004eow.2_Missense_Mutation_p.K396R|CHRDL1_uc010nps.2_Missense_Mutation_p.K397R|CHRDL1_uc004eot.2_Missense_Mutation_p.K317R|CHRDL1_uc011mss.1_Missense_Mutation_p.K312R	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	390					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						AAACATCCTCTTGGAGATCTT	0.453													C	109922617	T	C	109922617	3	2	280	1	0	0	0	0	1	0	0	0	3373	1609	56	3	191	3	CHRDL1	23	109922617	Missense_Mutation	SNP	T	TCGA-HU-A4H4-01A-21D-A25D-08	7037422	109922617	45347943	792	144873											
DCX	1641	broad.mit.edu	37	chrX	110644413	110644413	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaaagtccttgttctccctGgcctgtgcactgttgctgct	9	13	1	0			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:110644413G>C	uc004epd.2	-	3	925	c.753C>G	c.(751-753)GCC>GCG	p.A251A	DCX_uc011msv.1_Silent_p.A251A|DCX_uc004epe.2_Silent_p.A170A|DCX_uc004epf.2_Silent_p.A170A|DCX_uc004epg.2_Silent_p.A170A	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	251					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						TGTTCTCCCTGGCCTGTGCAC	0.527													C	110644413	G	C	110644413	2	2	280	1	0	0	0	0	0	0	0	1	4318	1335	47	5		5	DCX	23	110644413	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	721796	110644413	44626147	793	144874											
TRPC5	7224	broad.mit.edu	37	chrX	111020035	111020035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgatgagaggtggccCatggcaagtctttttcttgc	13	8	3	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:111020035C>A	uc004epl.1	-	11	3347	c.2428G>T	c.(2428-2430)GGG>TGG	p.G810W		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	810	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AGAGGTGGCCCATGGCAAGTC	0.488													A	111020035	C	A	111020035	3	1	280	1	0	0	0	0	1	0	0	0	16579	594	21	5	497	5	TRPC5	23	111020035	Missense_Mutation	SNP	C	TCGA-HU-A4H4-01A-21D-A25D-08	375622	111020035	44250525	794	144875											
DOCK11	139818	broad.mit.edu	37	chrX	117744238	117744238	+	Frame_Shift_Del	DEL	C	C	-													tgcctatttcatttcagcttCcccgaggccagagatttccc							TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:117744237_117744237TC>T	uc004eqp.2	+	27	3015	c.2952_2952TC>T	c.(2950-2952)cttfs	p.L984fs	DOCK11_uc004eqq.2_Frame_Shift_Del_p.L750fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	984					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						CATTTCAGCTTCCCCGAGGCC	0.383													-	117744238	C	-	117744238	7	5	280	1	0	1	0	1	0	0	0	0	4686	855	30	0	3063	0	DOCK11	23	117744238	Frame_Shift_Del	DEL	C	TCGA-HU-A4H4-01A-21D-A25D-08	6724203	117744238	37526322	795	144876											
HS6ST2	90161	broad.mit.edu	37	chrX	131762948	131762948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccataaactctttgaggGggcagccagaccagtcatcg	11	11	2	2			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:131762948G>A	uc011mve.1	-	4	1537	c.1121C>T	c.(1120-1122)CCC>CTC	p.P374L	HS6ST2_uc011mvb.1_Missense_Mutation_p.P268L|HS6ST2_uc011mvc.1_Missense_Mutation_p.P228L|HS6ST2_uc011mvd.1_Missense_Mutation_p.P414L|HS6ST2_uc011mva.1_Missense_Mutation_p.P100L	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	374	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					CTCTTTGAGGGGGCAGCCAGA	0.582													A	131762948	G	A	131762948	3	1	280	1	0	0	0	0	1	0	0	0	7371	1232	43	4	700	4	HS6ST2	23	131762948	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	14018710	131762948	23507612	796	144877											
GPR112	139378	broad.mit.edu	37	chrX	135427817	135427817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcccatctgttctccaGcaatgagaccatttggactt	8	12	2	1			TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:135427817G>A	uc004ezu.1	+	6	2243	c.1952G>A	c.(1951-1953)AGC>AAC	p.S651N	GPR112_uc010nsb.1_Missense_Mutation_p.S446N|GPR112_uc010nsc.1_Missense_Mutation_p.S418N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	651	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCTCCAGCAATGAGACC	0.473													A	135427817	G	A	135427817	3	1	280	1	0	0	0	0	1	0	0	0	6629	971	34	2	1962	2	GPR112	23	135427817	Missense_Mutation	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	3664869	135427817	19842743	797	144878											
PLXNB3	5365	broad.mit.edu	37	chrX	153039391	153039391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccagacagagcccacccGcagcgggtcttcttcaccct	9	17	3	2	rs149200734		TCGA-HU-A4H4-01A-21D-A25D-08	TCGA-HU-A4H4-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547ef3c8-0c69-47cb-831e-6345a197bc7e	be800cd2-7e29-43cd-942a-d62c1297a71d	g.chrX:153039391G>A	uc004fii.2	+	20	3531	c.3357G>A	c.(3355-3357)CCG>CCA	p.P1119P	PLXNB3_uc010nuk.2_Silent_p.P1142P|PLXNB3_uc011mzd.1_Silent_p.P758P|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1119	IPT/TIG 3.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	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)					GAGCCCACCCGCAGCGGGTCT	0.667													A	153039391	G	A	153039391	2	1	280	1	0	0	0	0	0	0	0	1	12125	1074	38	1		1	PLXNB3	23	153039391	Silent	SNP	G	TCGA-HU-A4H4-01A-21D-A25D-08	17611574	153039391	2231169	798	144879											
NOC2L	26155	broad.mit.edu	37	chr1	883896	883896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttctcctgcaggttgaCattggacagcttcaggatca	10	12	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:883896C>T	uc001abz.3	-	13	1590	c.1531G>A	c.(1531-1533)GTC>ATC	p.V511I	NOC2L_uc001aby.3_Missense_Mutation_p.V308I|NOC2L_uc009vjq.2_Missense_Mutation_p.V511I	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	511						nucleolus	protein binding			ovary(1)|skin(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;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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCAGGTTGACATTGGACAGC	0.632													T	883896	C	T	883896	3	4	281	1	0	0	0	0	1	0	0	0	10513	478	17	4	746	4	NOC2L	1	883896	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		883896	248366725	1	144880											
LOC649330	649330	broad.mit.edu	37	chr1	12907401	12907401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggtccccctcctcagCagagtcttctgcacccccct	8	19	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:12907401C>A	uc009vno.2	-	1	837	c.742G>T	c.(742-744)GTT>TTT	p.V248F	HNRNPCL1_uc010obf.1_Missense_Mutation_p.A248S	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	248							nucleic acid binding|nucleotide binding				0						CCCTCCTCAGCAGAGTCTTCT	0.493													A	12907401	C	A	12907401	3	1	281	1	0	0	0	0	1	0	0	0	8885	710	25	5	143	5	LOC649330	1	12907401	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	12023505	12907401	236343220	2	144881											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921227	12921235	+	In_Frame_Del	DEL	CTAGGAGCT	CTAGGAGCT	-													tccgcatcagtcttgaacccCtaggagctctgctagagaaa					rs1063789	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:12921226_12921234CCTAGGAGCT>C	uc001aum.1	+	3	1104_1112	c.1017_1025CCTAGGAGCT>C	c.(1015-1026)cccctaggagct>ccCt	p.LGA340del		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	340										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)		GTCTTGAACCCCTAGGAGCTCTGCTAGAG	0.536													-	12921235	CTAGGAGCT	-	12921227	7	5	281	1	0	1	0	1	0	0	0	0	12435	680	24	0	1028	0	PRAMEF2	1	12921227	In_Frame_Del	DEL	CTAGGAGCT	TCGA-HU-A4H5-01A-21D-A25D-08	13826	12921227	236329394	3	144882											
SPEN	23013	broad.mit.edu	37	chr1	16261743	16261743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagtcaaccatgtcccctCggggcccagcatcccagcag	10	16	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:16261743C>T	uc001axk.1	+	11	9212	c.9008C>T	c.(9007-9009)TCG>TTG	p.S3003L	SPEN_uc010obp.1_Missense_Mutation_p.S2962L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3003					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		CATGTCCCCTCGGGGCCCAGC	0.607													T	16261743	C	T	16261743	3	4	281	1	0	0	0	0	1	0	0	0	15037	893	31	1	9050	1	SPEN	1	16261743	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	3340516	16261743	232988878	4	144883											
UBR4	23352	broad.mit.edu	37	chr1	19436703	19436703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaatgttcacagccatgaGgaaaaggctgagagctaggg	13	7	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:19436703G>A	uc001bbi.2	-	81	11996	c.11992C>T	c.(11992-11994)CTC>TTC	p.L3998F		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3998					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		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)		ACAGCCATGAGGAAAAGGCTG	0.507													A	19436703	G	A	19436703	3	1	281	1	0	0	0	0	1	0	0	0	16901	1000	35	4	3663	4	UBR4	1	19436703	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3174960	19436703	229813918	5	144884											
PINK1	65018	broad.mit.edu	37	chr1	20975025	20975025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctggctggtgatcgcagAttttggctgctgcctggctg	14	12	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:20975025A>G	uc001bdm.2	+	6	1245	c.1151A>G	c.(1150-1152)GAT>GGT	p.D384G	PINK1_uc001bdn.2_Missense_Mutation_p.D77G	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	384	Protein kinase.|Cytoplasmic (Potential).				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			ovary(2)|central_nervous_system(1)	3		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)		GTGATCGCAGATTTTGGCTGC	0.607													G	20975025	A	G	20975025	3	3	281	1	0	0	0	0	1	0	0	0	11932	333	12	3	1173	3	PINK1	1	20975025	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	1538322	20975025	228275596	6	144885											
ALPL	249	broad.mit.edu	37	chr1	21904089	21904089	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcaggcagccttgctgCaggccccctgctgctcgcgc	13	18	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:21904089C>A	uc001bet.2	+	12	1780	c.1523C>A	c.(1522-1524)GCA>GAA	p.A508E	ALPL_uc010odn.1_Missense_Mutation_p.A456E|ALPL_uc010odo.1_Missense_Mutation_p.A453E|ALPL_uc010odp.1_Missense_Mutation_p.A431E|ALPL_uc001beu.3_Missense_Mutation_p.A508E	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	508					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGCCTTGCTGCAGGCCCCCTG	0.682													A	21904089	C	A	21904089	3	1	281	1	0	0	0	0	1	0	0	0	547	710	25	5	1565	5	ALPL	1	21904089	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	929064	21904089	227346532	7	144886											
EPHA8	2046	broad.mit.edu	37	chr1	22903206	22903206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttctcggaggcagtgaCgggggccgactcgtcctcac	14	14	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:22903206C>T	uc001bfx.1	+	3	781	c.656C>T	c.(655-657)ACG>ATG	p.T219M	EPHA8_uc001bfw.2_Missense_Mutation_p.T219M	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	219	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T219T(1)		central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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)		GAGGCAGTGACGGGGGCCGAC	0.637													T	22903206	C	T	22903206	3	4	281	1	0	0	0	0	1	0	0	0	5173	536	19	1	666	1	EPHA8	1	22903206	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	999117	22903206	226347415	8	144887											
MYOM3	127294	broad.mit.edu	37	chr1	24409198	24409198	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcctcagcccgggaacTgtaaacctgggagagaaatg	12	12	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:24409198T>C	uc001bin.3	-	17	2140	c.1977A>G	c.(1975-1977)ACA>ACG	p.T659T	MYOM3_uc001bim.3_Silent_p.T316T|MYOM3_uc001bio.2_Silent_p.T659T|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	659	Fibronectin type-III 3.									skin(2)|ovary(1)	3		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)		GCCCGGGAACTGTAAACCTGG	0.542													C	24409198	T	C	24409198	2	2	281	1	0	0	0	0	0	0	0	1	10093	1567	55	3		3	MYOM3	1	24409198	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	1505992	24409198	224841423	9	144888											
MYOM3	127294	broad.mit.edu	37	chr1	24433597	24433597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccagtcccgcctctggCgcagcagccggtgggtctgc	13	16	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:24433597C>T	uc001bin.3	-	4	531	c.368G>A	c.(367-369)CGC>CAC	p.R123H	MYOM3_uc001bio.2_Missense_Mutation_p.R123H|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	123	Potential.									skin(2)|ovary(1)	3		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)		CCGCCTCTGGCGCAGCAGCCG	0.687													T	24433597	C	T	24433597	3	4	281	1	0	0	0	0	1	0	0	0	10093	768	27	1	4081	1	MYOM3	1	24433597	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	24399	24433597	224817024	10	144889											
CSMD2	114784	broad.mit.edu	37	chr1	34052731	34052731	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgacgacttcggcgttgggGaggatggtgggaggagggca	22	5	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:34052731G>T	uc001bxn.1	-	46	6929	c.6900C>A	c.(6898-6900)CTC>CTA	p.L2300L	CSMD2_uc001bxm.1_Silent_p.L2298L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2300	Sushi 13.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGCGTTGGGGAGGATGGTGG	0.502													T	34052731	G	T	34052731	2	4	281	1	0	0	0	0	0	0	0	1	3945	1161	41	5		5	CSMD2	1	34052731	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	9619134	34052731	215197890	11	144890											
CSMD2	114784	broad.mit.edu	37	chr1	34209071	34209082	+	In_Frame_Del	DEL	GTTGAAGGCCAG	GTTGAAGGCCAG	-													tgaggctccacgtcaatgtcGttgaaggccaggtggatgcg					rs138506777		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:34209070_34209081CGTTGAAGGCCAG>C	uc001bxm.1	-	13	2150_2161	c.1973_1984CTGGCCTTCAACG>G	c.(1972-1986)ctggccttcaacgac>cGac	p.658_662LAFND>R	CSMD2_uc001bxn.1_In_Frame_Del_p.618_622LAFND>R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	618	CUB 4.					integral to membrane|plasma membrane	protein binding	p.H662R(1)|p.N621N(1)|p.S660I(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)				ACGTCAATGTCGTTGAAGGCCAGGTGGATGCG	0.608													-	34209082	GTTGAAGGCCAG	-	34209071	7	5	281	1	0	1	0	1	0	0	0	0	3945	1136	40	0	8824	0	CSMD2	1	34209071	In_Frame_Del	DEL	GTTGAAGGCCAG	TCGA-HU-A4H5-01A-21D-A25D-08	156340	34209071	215041550	12	144891											
BMP8B	656	broad.mit.edu	37	chr1	40230409	40230409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggactcggactggccctgaAgaaagtgaccacgaaaggct	14	10	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:40230409A>G	uc001cdz.1	-	4	1130	c.754T>C	c.(754-756)TTC>CTC	p.F252L	BMP8B_uc001cea.1_Intron	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	252					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	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)			CTGGCCCTGAAGAAAGTGACC	0.647													G	40230409	A	G	40230409	3	3	281	1	0	0	0	0	1	0	0	0	1467	72	3	3	470	3	BMP8B	1	40230409	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	6021338	40230409	209020212	13	144892											
RAVER2	55225	broad.mit.edu	37	chr1	65247062	65247062	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatagaatgtattgtatcaGcttgcacaggatgaaggtag	11	4	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:65247062G>C	uc001dbs.1	+	4	865	c.787_splice	c.e4-1	p.L263_splice	RAVER2_uc001dbt.1_Splice_Site_p.L142_splice|RAVER2_uc010opb.1_Splice_Site_p.L142_splice	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2							cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						TATTGTATCAGCTTGCACAGG	0.398													C	65247062	G	C	65247062	5	2	281	1	0	0	0	0	0	0	1	0	13095	985	34	5	800	5	RAVER2	1	65247062	Splice_Site	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	25016653	65247062	184003559	14	144893											
DIRAS3	9077	broad.mit.edu	37	chr1	68512430	68512430	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcacattcacatcgGtcttggctgaaatctccatg	8	13	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:68512430G>C	uc001ded.2	-	2	846	c.551C>G	c.(550-552)ACC>AGC	p.T184S	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	184					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			skin(1)	1						ATTCACATCGGTCTTGGCTGA	0.542													C	68512430	G	C	68512430	3	2	281	1	0	0	0	0	1	0	0	0	4532	1261	44	5	142	5	DIRAS3	1	68512430	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3265368	68512430	180738191	15	144894											
WLS	79971	broad.mit.edu	37	chr1	68616029	68616029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatggaaatcccaagggCaaagatgactctgatggtga	13	7	2	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:68616029C>T	uc001def.1	-	6	1085	c.814G>A	c.(814-816)GCC>ACC	p.A272T	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.A270T|WLS_uc001deg.1_Missense_Mutation_p.A181T|WLS_uc009wbf.1_Missense_Mutation_p.A227T	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	272	Helical; Name=2; (Potential).				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				0						ATCCCAAGGGCAAAGATGACT	0.448													T	68616029	C	T	68616029	3	4	281	1	0	0	0	0	1	0	0	0	17373	710	25	2	965	2	WLS	1	68616029	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	103599	68616029	180634592	16	144895											
DBT	1629	broad.mit.edu	37	chr1	100684199	100684199	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacattgttttccattgccaGacggcgaactgcaggagttg	11	9	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:100684199G>A	uc001dta.2	-	5	571	c.538C>T	c.(538-540)CTG>TTG	p.L180L	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	180					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCATTGCCAGACGGCGAACT	0.393													A	100684199	G	A	100684199	2	1	281	1	0	0	0	0	0	0	0	1	4258	933	33	4		4	DBT	1	100684199	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	32068170	100684199	148566422	17	144896											
SLC16A1	6566	broad.mit.edu	37	chr1	113456781	113456781	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtctccatacatgtcattgAgccgacctaaatatgtaaaa	6	9	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:113456781A>T	uc001ecx.2	-	5	2067	c.1235T>A	c.(1234-1236)CTC>CAC	p.L412H	SLC16A1_uc001ecy.2_Missense_Mutation_p.L412H	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	412	Extracellular (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CATGTCATTGAGCCGACCTAA	0.378													T	113456781	A	T	113456781	3	4	281	1	0	0	0	0	1	0	0	0	14402	304	11	5	271	5	SLC16A1	1	113456781	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	12772582	113456781	135793840	18	144897											
DENND2C	163259	broad.mit.edu	37	chr1	115130457	115130457	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgggacttacggaatggttCcctttggaaaacacgctccc	11	11	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:115130457C>A	uc001efd.1	-	19	3250	c.2548G>T	c.(2548-2550)GAA>TAA	p.E850*	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Nonsense_Mutation_p.E793*	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	850	dDENN.									skin(3)	3	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)		CGGAATGGTTCCCTTTGGAAA	0.488													A	115130457	C	A	115130457	4	1	281	1	0	0	0	0	0	1	0	0	4430	864	30	5	250	5	DENND2C	1	115130457	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1673676	115130457	134120164	19	144898											
NOTCH2	4853	broad.mit.edu	37	chr1	120480053	120480053	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgccagcattgatgcagAcacctgagtgctggcacaag	12	10	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:120480053A>C	uc001eik.2	-	21	3630	c.3374T>G	c.(3373-3375)GTC>GGC	p.V1125G	NOTCH2_uc001eil.2_Missense_Mutation_p.V1125G	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1125	EGF-like 29.|Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		ATTGATGCAGACACCTGAGTG	0.522			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				C	120480053	A	C	120480053	3	2	281	1	0	0	0	0	1	0	0	0	10548	275	10	5	4097	5	NOTCH2	1	120480053	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	5349596	120480053	128770568	20	144899											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882804	144882804	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgtcttcctcgatcTcccatccatcagacattgct	4	16	4	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:144882804T>A	uc001elw.3	-	24	3506	c.3215A>T	c.(3214-3216)GAG>GTG	p.E1072V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1138V|PDE4DIP_uc001elv.3_Missense_Mutation_p.E79V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1072					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCTCGATCTCCCATCCATC	0.502			T	PDGFRB	MPD								A	144882804	T	A	144882804	3	1	281	1	0	0	0	0	1	0	0	0	11643	1551	54	5	3909	5	PDE4DIP	1	144882804	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	24402751	144882804	104367817	21	144900											
POGZ	23126	broad.mit.edu	37	chr1	151378394	151378394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacaggtagctgttgttcGcgctgggttagcacccactc	11	11	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:151378394G>A	uc001eyd.1	-	19	3423	c.3117C>T	c.(3115-3117)CGC>CGT	p.R1039R	POGZ_uc001eye.1_Silent_p.R986R|POGZ_uc010pdb.1_Silent_p.R1030R|POGZ_uc001eyf.1_Silent_p.R995R|POGZ_uc010pdc.1_Silent_p.R977R|POGZ_uc009wmv.1_Silent_p.R944R|POGZ_uc010pdd.1_Silent_p.R530R	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1039	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	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)			GCTGTTGTTCGCGCTGGGTTA	0.522													A	151378394	G	A	151378394	2	1	281	1	0	0	0	0	0	0	0	1	12186	1074	38	1		1	POGZ	1	151378394	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	6495590	151378394	97872227	22	144901											
TDRD10	126668	broad.mit.edu	37	chr1	154479756	154479756	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccaactctctgataaactGtttgggaagaatggagtgtt	10	8	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:154479756G>C	uc009wow.2	+	3	880	c.42G>C	c.(40-42)CTG>CTC	p.L14L	TDRD10_uc001ffd.2_Silent_p.L14L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	14							nucleotide binding|RNA binding			ovary(1)	1	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)			CTGATAAACTGTTTGGGAAGA	0.502													C	154479756	G	C	154479756	2	2	281	1	0	0	0	0	0	0	0	1	15728	1364	48	5		5	TDRD10	1	154479756	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3101362	154479756	94770865	23	144902											
IFI16	3428	broad.mit.edu	37	chr1	158984584	158984584	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatttaaaacttaatttaaaAatgagagaagagtatgacaa	7	2	0	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:158984584A>T	uc001ftf.1	+	3	721	c.114A>T	c.(112-114)AAA>AAT	p.K38N	IFI16_uc001ftg.2_Missense_Mutation_p.K38N|IFI16_uc010pis.1_Missense_Mutation_p.K38N	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	38	DAPIN.|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			ovary(1)	1	all_hematologic(112;0.0429)					TTAATTTAAAAATGAGAGAAG	0.318													T	158984584	A	T	158984584	3	4	281	1	0	0	0	0	1	0	0	0	7511	11	1	5	116	5	IFI16	1	158984584	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	4504828	158984584	90266037	24	144903											
RC3H1	149041	broad.mit.edu	37	chr1	173915728	173915728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccatgactggccacttcTgacatagatattctctccct	5	13	2	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:173915728T>C	uc001gju.3	-	16	2934	c.2847A>G	c.(2845-2847)TCA>TCG	p.S949S	RC3H1_uc010pms.1_Silent_p.S949S|RC3H1_uc001gjv.2_Silent_p.S949S|RC3H1_uc010pmt.1_Silent_p.S949S	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	949					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			ovary(2)	2						TGGCCACTTCTGACATAGATA	0.388													C	173915728	T	C	173915728	2	2	281	1	0	0	0	0	0	0	0	1	13166	1567	55	3		3	RC3H1	1	173915728	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	14931144	173915728	75334893	25	144904											
RFWD2	64326	broad.mit.edu	37	chr1	176118177	176118177	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcttgcaaccttgaggaattCcataagaatctgtagttggg	10	7	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:176118177C>A	uc001gku.1	-	6	1052	c.796G>T	c.(796-798)GAA>TAA	p.E266*	RFWD2_uc001gkv.1_Nonsense_Mutation_p.E262*|RFWD2_uc001gkw.1_Nonsense_Mutation_p.E26*|RFWD2_uc009wwv.2_Nonsense_Mutation_p.E26*|RFWD2_uc001gkt.1_Nonsense_Mutation_p.E125*	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	266	Potential.				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				0						TTGAGGAATTCCATAAGAATC	0.269													A	176118177	C	A	176118177	4	1	281	1	0	0	0	0	0	1	0	0	13260	864	30	5	1459	5	RFWD2	1	176118177	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	2202449	176118177	73132444	26	144905											
FAM5B	57795	broad.mit.edu	37	chr1	177250236	177250236	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaagactttctttgagacaGttcatgtttacctacggagc	10	8	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:177250236G>C	uc001glf.2	+	8	2236	c.1924G>C	c.(1924-1926)GTT>CTT	p.V642L	FAM5B_uc001glg.2_Missense_Mutation_p.V537L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	642						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTTTGAGACAGTTCATGTTTA	0.483													C	177250236	G	C	177250236	3	2	281	1	0	0	0	0	1	0	0	0	5593	1029	36	5	1950	5	FAM5B	1	177250236	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1132059	177250236	72000385	27	144906											
CFH	3075	broad.mit.edu	37	chr1	196659341	196659341	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatgtatggagaatggctgGtctcctactcccagatgcat	10	10	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:196659341G>C	uc001gtj.3	+	9	1548	c.1308G>C	c.(1306-1308)TGG>TGC	p.W436C	CFH_uc001gti.3_Missense_Mutation_p.W436C|CFH_uc009wyw.2_Missense_Mutation_p.W411C|CFH_uc009wyx.2_Missense_Mutation_p.W372C	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	436	Sushi 7.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AGAATGGCTGGTCTCCTACTC	0.438													C	196659341	G	C	196659341	3	2	281	1	0	0	0	0	1	0	0	0	3283	1270	44	5	1342	5	CFH	1	196659341	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	19409105	196659341	52591280	28	144907											
NAV1	89796	broad.mit.edu	37	chr1	201789042	201789042	+	Frame_Shift_Del	DEL	C	C	-													gaaaccatcctggaccccaaCcttcaggcaacactttaagg							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:201789041_201789041AC>A	uc021phi.1	+	29	5962	c.5615_5615AC>A	c.(5614-5616)aacfs	p.N1872fs	NAV1_uc001gwu.3_Frame_Shift_Del_p.N1869fs|NAV1_uc001gwx.3_Frame_Shift_Del_p.N1478fs	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1872					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						CTGGACCCCAACCTTCAGGCA	0.517													-	201789042	C	-	201789042	7	5	281	1	0	1	0	1	0	0	0	0	10183	506	18	0	5791	0	NAV1	1	201789042	Frame_Shift_Del	DEL	C	TCGA-HU-A4H5-01A-21D-A25D-08	5129701	201789042	47461579	29	144908											
NFASC	23114	broad.mit.edu	37	chr1	204945883	204945883	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtgtcgccagcaccgaGctagaccaagacctggccaa	11	14	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:204945883G>C	uc001hbj.2	+	16	2119	c.1791G>C	c.(1789-1791)GAG>GAC	p.E597D	NFASC_uc001hbh.2_Missense_Mutation_p.E597D|NFASC_uc010pqz.1_Missense_Mutation_p.E591D|NFASC_uc010pra.1_Missense_Mutation_p.E608D|NFASC_uc001hbi.2_Missense_Mutation_p.E608D|NFASC_uc010prb.1_Missense_Mutation_p.E608D|NFASC_uc010prc.1_Missense_Mutation_p.E164D|NFASC_uc001hbk.1_Missense_Mutation_p.E418D	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	597	Extracellular (Potential).|Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	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)			CCAGCACCGAGCTAGACCAAG	0.617													C	204945883	G	C	204945883	3	2	281	1	0	0	0	0	1	0	0	0	10359	962	34	5	1900	5	NFASC	1	204945883	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3156841	204945883	44304738	30	144909											
LYPLAL1	127018	broad.mit.edu	37	chr1	219366473	219366473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtatggtttgacagaTttaaaataaccaatgactgc	7	7	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:219366473T>C	uc001hlq.3	+	3	282	c.241T>C	c.(241-243)TTT>CTT	p.F81L	LYPLAL1_uc001hlr.3_Missense_Mutation_p.F65L|LYPLAL1_uc001hls.3_Intron|LYPLAL1_uc001hlt.3_Intron|LYPLAL1_uc009xds.2_Intron	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	81						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GTTTGACAGATTTAAAATAAC	0.373													C	219366473	T	C	219366473	3	2	281	1	0	0	0	0	1	0	0	0	9118	1493	52	3	251	3	LYPLAL1	1	219366473	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	14420590	219366473	29884148	31	144910											
GUK1	2987	broad.mit.edu	37	chr1	228333735	228333735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgctagataccacgAggaacccgaggcccggcgag	12	14	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:228333735A>G	uc001hsh.2	+	4	424	c.121A>G	c.(121-123)AGG>GGG	p.R41G	GUK1_uc001hsi.2_Missense_Mutation_p.R62G|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Missense_Mutation_p.R41G	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	41	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				AGATACCACGAGGAACCCGAG	0.672													G	228333735	A	G	228333735	3	3	281	1	0	0	0	0	1	0	0	0	6900	295	11	3	194	3	GUK1	1	228333735	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	8967262	228333735	20916886	32	144911											
TAF5L	27097	broad.mit.edu	37	chr1	229730770	229730770	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gagctgtccgcgaggaacctCgtgctgtacactggtccgca	13	13	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:229730770C>G	uc001htq.2	-	5	1210	c.1044G>C	c.(1042-1044)ACG>ACC	p.T348T		NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	348	WD 2.				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CGAGGAACCTCGTGCTGTACA	0.542													G	229730770	C	G	229730770	2	3	281	1	0	0	0	0	0	0	0	1	15526	871	31	5		5	TAF5L	1	229730770	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1397035	229730770	19519851	33	144912											
RBM34	23029	broad.mit.edu	37	chr1	235324532	235324532	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttccgtttgctcatcccttCcaaggccattcttactccaa	4	16	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:235324532C>G	uc001hwn.2	-	1	40	c.10G>C	c.(10-12)GAA>CAA	p.E4Q	RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.E4Q	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	4						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)			CTCATCCCTTCCAAGGCCATT	0.627													G	235324532	C	G	235324532	3	3	281	1	0	0	0	0	1	0	0	0	13131	864	30	5	1347	5	RBM34	1	235324532	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	5593762	235324532	13926089	34	144913											
ARID4B	51742	broad.mit.edu	37	chr1	235377164	235377164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttaatactagcttcataCattttttgatttttccctcg	3	9	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:235377164C>A	uc001hwq.2	-	17	2259	c.1761G>T	c.(1759-1761)ATG>ATT	p.M587I	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.M268I	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	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)			TAGCTTCATACATTTTTTGAT	0.398													A	235377164	C	A	235377164	3	1	281	1	0	0	0	0	1	0	0	0	920	478	17	5	2209	5	ARID4B	1	235377164	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	52632	235377164	13873457	35	144914											
LYST	1130	broad.mit.edu	37	chr1	235866229	235866229	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcatggtttctagcgctcGtctctgaactggatcttcaa	8	10	5	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:235866229G>A	uc001hxj.2	-	45	10367	c.10192C>T	c.(10192-10194)CGA>TGA	p.R3398*	LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			TCTAGCGCTCGTCTCTGAACT	0.453									Chediak-Higashi_syndrome				A	235866229	G	A	235866229	4	1	281	1	0	0	0	0	0	1	0	0	9128	1153	40	1	1249	1	LYST	1	235866229	Nonsense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	489065	235866229	13384392	36	144915											
CEP170	9859	broad.mit.edu	37	chr1	243289777	243289777	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtactgtaacatcttcctCttccccatcggggttgaatc	7	12	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:243289777C>T	uc001hzs.2	-	20	5137	c.4729G>A	c.(4729-4731)GAG>AAG	p.E1577K	CEP170_uc001hzt.2_Missense_Mutation_p.E1453K|CEP170_uc001hzu.2_Missense_Mutation_p.E1479K|CEP170_uc001hzr.2_Missense_Mutation_p.E166K|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1577	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			ACATCTTCCTCTTCCCCATCG	0.403													T	243289777	C	T	243289777	3	4	281	1	0	0	0	0	1	0	0	0	3250	922	32	4	29	4	CEP170	1	243289777	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	7423548	243289777	5960844	37	144916											
GREB1	9687	broad.mit.edu	37	chr2	11716623	11716623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccgtaatgcacaagggaCtctaaccaaaggacctttaa	9	10	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:11716623C>T	uc002rbk.1	+	5	899	c.599C>T	c.(598-600)ACT>ATT	p.T200I	GREB1_uc002rbl.2_Missense_Mutation_p.T200I|GREB1_uc002rbm.2_Missense_Mutation_p.T90I|GREB1_uc002rbn.1_Missense_Mutation_p.T200I	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	200						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACAAGGGACTCTAACCAAA	0.498													T	11716623	C	T	11716623	3	4	281	1	0	0	0	0	1	0	0	0	6760	565	20	4	613	4	GREB1	2	11716623	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		11716623	231482750	38	144917											
APOB	338	broad.mit.edu	37	chr2	21234023	21234023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgtatgtgcatcgatgGtcatggtaaacggggccatt	12	7	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:21234023G>A	uc002red.2	-	26	5845	c.5717C>T	c.(5716-5718)ACC>ATC	p.T1906I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1906					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			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCATCGATGGTCATGGTAAA	0.478													A	21234023	G	A	21234023	3	1	281	1	0	0	0	0	1	0	0	0	785	1261	44	4	7990	4	APOB	2	21234023	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	9517400	21234023	221965350	39	144918											
XDH	7498	broad.mit.edu	37	chr2	31593300	31593300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcagcggaaatgaaaCaaacaaaccctggaaccttc	6	12	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:31593300C>T	uc002rnv.1	-	18	1980	c.1901G>A	c.(1900-1902)TGT>TAT	p.C634Y		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	634					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)	GGAAATGAAACAAACAAACCC	0.443													T	31593300	C	T	31593300	3	4	281	1	0	0	0	0	1	0	0	0	17423	478	17	4	2176	4	XDH	2	31593300	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	10359277	31593300	211606073	40	144919											
TTC27	55622	broad.mit.edu	37	chr2	33002969	33002969	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcggggtgtggttttctctCggttgtgcctatttggcctt	13	9	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:33002969C>G	uc002rom.2	+	14	1932	c.1701C>G	c.(1699-1701)CTC>CTG	p.L567L	TTC27_uc010ymx.1_Silent_p.L517L|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	567	HAT 1.|TPR 4.						protein binding			central_nervous_system(1)	1						GGTTTTCTCTCGGTTGTGCCT	0.403													G	33002969	C	G	33002969	2	3	281	1	0	0	0	0	0	0	0	1	16692	871	31	5		5	TTC27	2	33002969	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1409669	33002969	210196404	41	144920											
USP34	9736	broad.mit.edu	37	chr2	61483553	61483553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttcccacaatgagAacaagtatacatgttatcac	4	10	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:61483553A>C	uc002sbe.2	-	48	6209	c.6187T>G	c.(6187-6189)TCT>GCT	p.S2063A	USP34_uc002sbf.2_Missense_Mutation_p.S213A	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2063					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			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CCACAATGAGAACAAGTATAC	0.308													C	61483553	A	C	61483553	3	2	281	1	0	0	0	0	1	0	0	0	17062	246	9	5	4585	5	USP34	2	61483553	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	28480584	61483553	181715820	42	144921											
IMMT	10989	broad.mit.edu	37	chr2	86371621	86371621	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttaaatgtgtttatatcctCagggcagagctctgggggcg	13	7	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:86371621C>G	uc002sqz.3	-	15	2435	c.2047G>C	c.(2047-2049)GAG>CAG	p.E683Q	IMMT_uc002sqy.3_Missense_Mutation_p.E424Q|IMMT_uc002srb.3_Missense_Mutation_p.E672Q|IMMT_uc002sra.3_Missense_Mutation_p.E682Q|IMMT_uc010ytd.1_Missense_Mutation_p.E671Q|IMMT_uc010yte.1_Missense_Mutation_p.E636Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	683	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						TTTATATCCTCAGGGCAGAGC	0.473													G	86371621	C	G	86371621	3	3	281	1	0	0	0	0	1	0	0	0	7718	835	29	5	233	5	IMMT	2	86371621	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	24888068	86371621	156827752	43	144922											
TSGA10	80705	broad.mit.edu	37	chr2	99651877	99651877	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggtagaaatctgggacTtgtaagacctttctgcattt	10	6	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:99651877T>A	uc002szg.3	-	15	2058	c.1430A>T	c.(1429-1431)AAG>ATG	p.K477M	TSGA10_uc002szh.3_Missense_Mutation_p.K477M|TSGA10_uc002szi.3_Missense_Mutation_p.K477M|TSGA10_uc010fin.1_Missense_Mutation_p.K477M	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	477					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						AATCTGGGACTTGTAAGACCT	0.303													A	99651877	T	A	99651877	3	1	281	1	0	0	0	0	1	0	0	0	16614	1609	56	5	686	5	TSGA10	2	99651877	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	13280256	99651877	143547496	44	144923											
EIF5B	9669	broad.mit.edu	37	chr2	99977640	99977640	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacaatgaagaggaattcacCtcaaaagataaaaaaaagaa	6	5	2	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:99977640C>G	uc002tab.2	+	4	460	c.276C>G	c.(274-276)ACC>ACG	p.T92T		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	92				T -> I (in Ref. 1; CAB44357).	regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AGGAATTCACCTCAAAAGATA	0.294													G	99977640	C	G	99977640	2	3	281	1	0	0	0	0	0	0	0	1	5044	668	24	5		5	EIF5B	2	99977640	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	325763	99977640	143221733	45	144924											
CCDC138	165055	broad.mit.edu	37	chr2	109432434	109432434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtttatgaacttttaactgTcttcatggactggatttcgg	9	6	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:109432434T>A	uc002ten.1	+	10	1139	c.1079T>A	c.(1078-1080)GTC>GAC	p.V360D	CCDC138_uc002teo.1_Missense_Mutation_p.V360D|CCDC138_uc002tep.1_Missense_Mutation_p.V44D|CCDC138_uc010fjm.1_Missense_Mutation_p.V44D	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	360											0						CTTTTAACTGTCTTCATGGAC	0.333													A	109432434	T	A	109432434	3	1	281	1	0	0	0	0	1	0	0	0	2772	1667	58	5	1117	5	CCDC138	2	109432434	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	9454794	109432434	133766939	46	144925											
BUB1	699	broad.mit.edu	37	chr2	111408206	111408206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctggtggatcttctgcaAtggcagcgtcagtgtctgtg	13	9	5	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:111408206A>C	uc002tgc.2	-	18	2232	c.2120T>G	c.(2119-2121)ATT>AGT	p.I707S	BUB1_uc010yxh.1_Missense_Mutation_p.I687S|BUB1_uc010fkb.2_Missense_Mutation_p.I707S	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	707					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			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCTTCTGCAATGGCAGCGTC	0.532													C	111408206	A	C	111408206	3	2	281	1	0	0	0	0	1	0	0	0	1570	101	4	5	1169	5	BUB1	2	111408206	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	1975772	111408206	131791167	47	144926											
NCKAP5	344148	broad.mit.edu	37	chr2	133542843	133542850	+	Frame_Shift_Del	DEL	CAGCCAAA	CAGCCAAA	-													agtgttttctgtttgtctccCagccaaacagactgtcggaa							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:133542842_133542849CCAGCCAAA>C	uc002ttp.3	-	13	1909_1916	c.1535_1542TTTGGCTGG>G	c.(1534-1542)tttggctggfs	p.F512fs	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	512							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						TGTTTGTCTCCCAGCCAAACAGACTGTC	0.5													-	133542850	CAGCCAAA	-	133542843	7	5	281	1	0	1	0	1	0	0	0	0	10223	595	21	0	4216	0	NCKAP5	2	133542843	Frame_Shift_Del	DEL	CAGCCAAA	TCGA-HU-A4H5-01A-21D-A25D-08	22134637	133542843	109656530	48	144927											
RBM43	375287	broad.mit.edu	37	chr2	152108058	152108058	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacggagattcttccattggGtttcaaaggactgaagctta	10	8	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:152108058G>C	uc002txh.2	-	4	584	c.436C>G	c.(436-438)CCC>GCC	p.P146A		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	146							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTTCCATTGGGTTTCAAAGGA	0.388													C	152108058	G	C	152108058	3	2	281	1	0	0	0	0	1	0	0	0	13137	1261	44	5	641	5	RBM43	2	152108058	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	18565215	152108058	91091315	49	144928											
SCN3A	6328	broad.mit.edu	37	chr2	165947259	165947259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tataaactgggtcgcatcggGatcaaacttttcccaaacct	7	11	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:165947259G>A	uc002ucx.2	-	28	5896	c.5404C>T	c.(5404-5406)CCC>TCC	p.P1802S	SCN3A_uc010zcy.1_Missense_Mutation_p.P285S|SCN3A_uc002ucy.2_Missense_Mutation_p.P1753S|SCN3A_uc002ucz.2_Missense_Mutation_p.P1753S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1802						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GTCGCATCGGGATCAAACTTT	0.458													A	165947259	G	A	165947259	3	1	281	1	0	0	0	0	1	0	0	0	13918	1174	41	4	602	4	SCN3A	2	165947259	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	13839201	165947259	77252114	50	144929											
RAPGEF4	11069	broad.mit.edu	37	chr2	173832034	173832034	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaatatttattctatcgatTtctggatgatgagcacgagg	9	6	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:173832034T>A	uc002uhv.3	+	10	1053	c.866T>A	c.(865-867)TTT>TAT	p.F289Y	RAPGEF4_uc002uhu.2_Missense_Mutation_p.F289Y|RAPGEF4_uc002uhw.3_Missense_Mutation_p.F145Y|RAPGEF4_uc010zec.1_Missense_Mutation_p.F136Y|RAPGEF4_uc010zed.1_Missense_Mutation_p.F118Y|RAPGEF4_uc010zee.1_Missense_Mutation_p.F136Y|RAPGEF4_uc010fqo.2_Missense_Mutation_p.F118Y|RAPGEF4_uc010zef.1_Missense_Mutation_p.F69Y|RAPGEF4_uc010zeg.1_Missense_Mutation_p.F116Y|RAPGEF4_uc010fqp.1_Missense_Mutation_p.F69Y|RAPGEF4_uc010zeh.1_Missense_Mutation_p.F69Y	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	289	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCTATCGATTTCTGGATGAT	0.522													A	173832034	T	A	173832034	3	1	281	1	0	0	0	0	1	0	0	0	13046	1841	64	5	920	5	RAPGEF4	2	173832034	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	7884775	173832034	69367339	51	144930											
ZAK	51776	broad.mit.edu	37	chr2	174104139	174104139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttcctgttttaggactcagGaggtgaacctgaagaaaatg	11	6	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:174104139G>T	uc002uhz.2	+	16	1474	c.1274G>T	c.(1273-1275)GGA>GTA	p.G425V	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	425					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			TAGGACTCAGGAGGTGAACCT	0.353													T	174104139	G	T	174104139	3	4	281	1	0	0	0	0	1	0	0	0	17509	1174	41	5	1717	5	ZAK	2	174104139	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	272105	174104139	69095234	52	144931											
EVX2	344191	broad.mit.edu	37	chr2	176947082	176947082	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagccacccagcgccgcgcTcccgccgctgcctccgctgc	12	22	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:176947082T>A	uc010zeu.1	-	2	709	c.523A>T	c.(523-525)AGC>TGC	p.S175C		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AGCGCCGCGCTCCCGCCGCTG	0.721													A	176947082	T	A	176947082	3	1	281	1	0	0	0	0	1	0	0	0	5295	1551	54	5	913	5	EVX2	2	176947082	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	2842943	176947082	66252291	53	144932											
MSTN	2660	broad.mit.edu	37	chr2	190924970	190924970	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtttcagagatcggaTtccagtataccttgtaccgt	9	9	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:190924970T>A	uc002urp.2	-	2	698	c.565A>T	c.(565-567)ATC>TTC	p.I189F		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	189					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AGAGATCGGATTCCAGTATAC	0.428													A	190924970	T	A	190924970	3	1	281	1	0	0	0	0	1	0	0	0	9893	1493	52	5	570	5	MSTN	2	190924970	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	13977888	190924970	52274403	54	144933											
RFTN2	130132	broad.mit.edu	37	chr2	198495934	198495934	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagactgtatacaatttGttatctgaggctaggcattc	9	6	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:198495934G>C	uc002uuo.3	-	5	1131	c.729C>G	c.(727-729)AAC>AAG	p.N243K		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	243						plasma membrane					0						TATACAATTTGTTATCTGAGG	0.348													C	198495934	G	C	198495934	3	2	281	1	0	0	0	0	1	0	0	0	13259	1368	48	5	796	5	RFTN2	2	198495934	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	7570964	198495934	44703439	55	144934											
ORC2L	4999	broad.mit.edu	37	chr2	201822831	201822831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcttgtcttcctttaAttctggtttactcattgttg	6	9	4	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:201822831A>G	uc002uwr.2	-	3	273	c.16T>C	c.(16-18)TTA>CTA	p.L6L	ORC2L_uc010zhj.1_Silent_p.L6L	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	6					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						TCTTCCTTTAATTCTGGTTTA	0.333													G	201822831	A	G	201822831	2	3	281	1	0	0	0	0	0	0	0	1	11262	98	4	3		3	ORC2L	2	201822831	Silent	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	3326897	201822831	41376542	56	144935											
ZDBF2	57683	broad.mit.edu	37	chr2	207172799	207172799	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaataactattttggagcagGagcacattgaactagaaggt	10	5	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:207172799G>T	uc002vbp.2	+	5	3797	c.3547G>T	c.(3547-3549)GAG>TAG	p.E1183*		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1183							nucleic acid binding|zinc ion binding			ovary(3)	3						TTTGGAGCAGGAGCACATTGA	0.403													T	207172799	G	T	207172799	4	4	281	1	0	0	0	0	0	1	0	0	17596	1175	41	5	3557	5	ZDBF2	2	207172799	Nonsense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	5349968	207172799	36026574	57	144936											
PLEKHM3	389072	broad.mit.edu	37	chr2	208725964	208725964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taatgaccttgcccaagaatGgagccagctttccctctatt	7	12	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:208725964G>C	uc002vcl.2	-	7	2463	c.1973C>G	c.(1972-1974)CCA>CGA	p.P658R		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	658					intracellular signal transduction		metal ion binding			ovary(1)	1						GCCCAAGAATGGAGCCAGCTT	0.443													C	208725964	G	C	208725964	3	2	281	1	0	0	0	0	1	0	0	0	12082	1348	47	5	320	5	PLEKHM3	2	208725964	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1553165	208725964	34473409	58	144937											
CYP27A1	1593	broad.mit.edu	37	chr2	219677108	219677108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcggggaaccaggtgtcgGacatggctcaactcttctac	11	12	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:219677108G>A	uc002viz.3	+	3	1044	c.610G>A	c.(610-612)GAC>AAC	p.D204N		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	204					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCAGGTGTCGGACATGGCTCA	0.557													A	219677108	G	A	219677108	3	1	281	1	0	0	0	0	1	0	0	0	4158	1174	41	4	620	4	CYP27A1	2	219677108	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	10951144	219677108	23522265	59	144938											
DOCK10	55619	broad.mit.edu	37	chr2	225651752	225651752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttacctgcccataaaatGccacacgatagtagcgacca	6	13	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:225651752G>A	uc010fwz.1	-	50	5881	c.5642C>T	c.(5641-5643)GCA>GTA	p.A1881V	DOCK10_uc002vob.2_Missense_Mutation_p.A1875V|DOCK10_uc002voa.2_Missense_Mutation_p.A537V|DOCK10_uc002voc.2_Missense_Mutation_p.A702V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1881	DHR-2.						GTP binding			ovary(2)	2		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)		CCCATAAAATGCCACACGATA	0.433													A	225651752	G	A	225651752	3	1	281	1	0	0	0	0	1	0	0	0	4685	1319	46	2	946	2	DOCK10	2	225651752	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	5974644	225651752	17547621	60	144939											
TMPPE	643853	broad.mit.edu	37	chr3	33134422	33134422	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcctgggctgacatacacGaatgtagcctgggccacctg	13	12	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:33134422G>A	uc003cfk.2	-	2	1457	c.1266C>T	c.(1264-1266)TTC>TTT	p.F422F	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.F285F	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	422						integral to membrane	metal ion binding				0						TGACATACACGAATGTAGCCT	0.577													A	33134422	G	A	33134422	2	1	281	1	0	0	0	0	0	0	0	1	16235	1049	37	1		1	TMPPE	3	33134422	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08		33134422	164888008	61	144940											
CTNNB1	1499	broad.mit.edu	37	chr3	41266100	41266100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagtcttacctggacTctggaatccattctggtgcc	9	12	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:41266100T>C	uc010hia.1	+	4	253	c.97T>C	c.(97-99)TCT>CCT	p.S33P	CTNNB1_uc003ckp.2_Missense_Mutation_p.S33P|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33P|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33P|CTNNB1_uc011azf.1_Missense_Mutation_p.S26P|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	33			S -> F (in PTR, MDB and hepatocellular carcinoma).|Missing (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).|S -> L (in hepatocellular carcinoma).		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.S33C(131)|p.S33F(79)|p.A5_A80del(63)|p.S33Y(52)|p.S33P(37)|p.S33A(14)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.S33L(4)|p.W25_D32del(4)|p.W25_I140del(4)|p.S33N(3)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTACCTGGACTCTGGAATCCA	0.488		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				C	41266100	T	C	41266100	3	2	281	1	0	0	0	0	1	0	0	0	4016	1551	54	3	103	3	CTNNB1	3	41266100	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	8131678	41266100	156756330	62	144941											
CCR9	10803	broad.mit.edu	37	chr3	45943257	45943257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgagagattccgccGggatctcgtgaaaaccctga	14	9	1	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:45943257G>A	uc003coz.1	+	3	1134	c.977G>A	c.(976-978)CGG>CAG	p.R326Q	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.R314Q|CCR9_uc003cpa.1_Missense_Mutation_p.R314Q	NM_031200	NP_112477	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9 isoform A	326	Cytoplasmic (Potential).				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				ovary(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGATTCCGCCGGGATCTCGTG	0.507													A	45943257	G	A	45943257	3	1	281	1	0	0	0	0	1	0	0	0	2948	1116	39	1	983	1	CCR9	3	45943257	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	4677157	45943257	152079173	63	144942											
PLXNB1	5364	broad.mit.edu	37	chr3	48455322	48455322	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accgtgaactcaggcaaagaGtcaggtgcctctcggagggc	14	11	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:48455322G>C	uc003csw.2	-	22	4638	c.4368C>G	c.(4366-4368)GAC>GAG	p.D1456E	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.D1273E|PLXNB1_uc003csx.2_Missense_Mutation_p.D1456E|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1456	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGCAAAGAGTCAGGTGCCT	0.667													C	48455322	G	C	48455322	3	2	281	1	0	0	0	0	1	0	0	0	12123	1020	36	5	2107	5	PLXNB1	3	48455322	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2512065	48455322	149567108	64	144943											
PFKFB4	5210	broad.mit.edu	37	chr3	48576698	48576698	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actactcaccacgatgttggCagctatgacctcaggatcca	8	13	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:48576698C>G	uc003ctv.2	-	6	516	c.499G>C	c.(499-501)GCC>CCC	p.A167P	PFKFB4_uc003ctw.2_5'UTR|PFKFB4_uc010hkc.2_Missense_Mutation_p.A167P|PFKFB4_uc003ctx.2_Missense_Mutation_p.A124P|PFKFB4_uc010hkb.2_Missense_Mutation_p.A167P|PFKFB4_uc011bbm.1_Missense_Mutation_p.A156P|PFKFB4_uc011bbn.1_RNA	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	167	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACGATGTTGGCAGCTATGACC	0.522													G	48576698	C	G	48576698	3	3	281	1	0	0	0	0	1	0	0	0	11763	710	25	5	946	5	PFKFB4	3	48576698	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	121376	48576698	149445732	65	144944											
NISCH	11188	broad.mit.edu	37	chr3	52526002	52526002	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagatggctgagccagAgaaggccccagccctcagca	11	14	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:52526002A>T	uc011beg.1	+	22	4091	c.4019A>T	c.(4018-4020)GAG>GTG	p.E1340V	NISCH_uc003ded.3_Missense_Mutation_p.E1340V|NISCH_uc003dee.3_Missense_Mutation_p.E829V|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Missense_Mutation_p.E89V	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1340					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				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)		GCTGAGCCAGAGAAGGCCCCA	0.622													T	52526002	A	T	52526002	3	4	281	1	0	0	0	0	1	0	0	0	10432	304	11	5	4101	5	NISCH	3	52526002	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	3949304	52526002	145496428	66	144945											
ERC2	26059	broad.mit.edu	37	chr3	56330199	56330199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actttgcaacatctcaagaaGttttttaattgactcatctc	4	9	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:56330199G>T	uc003dhr.1	-	3	1178	c.922C>A	c.(922-924)CTT>ATT	p.L308I		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	308	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCTCAAGAAGTTTTTTAATT	0.468													T	56330199	G	T	56330199	3	4	281	1	0	0	0	0	1	0	0	0	5211	1029	36	5	2001	5	ERC2	3	56330199	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3804197	56330199	141692231	67	144946											
VGLL3	389136	broad.mit.edu	37	chr3	87017820	87017820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtagcagaggtgactGtagttggttctgtctttgtg	15	5	2	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:87017820G>T	uc003dqn.2	-	3	1221	c.857C>A	c.(856-858)ACA>AAA	p.T286K		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	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)		AGAGGTGACTGTAGTTGGTTC	0.532													T	87017820	G	T	87017820	3	4	281	1	0	0	0	0	1	0	0	0	17157	1377	48	5	131	5	VGLL3	3	87017820	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	30687621	87017820	111004610	68	144947											
VGLL3	389136	broad.mit.edu	37	chr3	87017831	87017831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgactgtagttggttcTgtctttgtgatgtcacactg	13	6	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:87017831T>C	uc003dqn.2	-	3	1210	c.846A>G	c.(844-846)ACA>ACG	p.T282T		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	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)		TAGTTGGTTCTGTCTTTGTGA	0.557													C	87017831	T	C	87017831	2	2	281	1	0	0	0	0	0	0	0	1	17157	1567	55	3		3	VGLL3	3	87017831	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	11	87017831	111004599	69	144948											
EPHA3	2042	broad.mit.edu	37	chr3	89457249	89457249	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taagtcaaaacatggggcagAtgaaaaaagacttcattttg	9	5	2	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:89457249A>T	uc003dqy.2	+	9	1955	c.1730A>T	c.(1729-1731)GAT>GTT	p.D577V	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	577	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)		CATGGGGCAGATGAAAAAAGA	0.348										TSP Lung(6;0.00050)			T	89457249	A	T	89457249	3	4	281	1	0	0	0	0	1	0	0	0	5168	333	12	5	1790	5	EPHA3	3	89457249	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	2439418	89457249	108565181	70	144949											
GOLGB1	2804	broad.mit.edu	37	chr3	121418664	121418664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacacatcacttacctcacTgacttctctgtctgcctccc	4	17	4	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:121418664T>G	uc003eei.3	-	12	1699	c.1573A>C	c.(1573-1575)AGT>CGT	p.S525R	GOLGB1_uc010hrc.2_Missense_Mutation_p.S530R|GOLGB1_uc003eej.3_Missense_Mutation_p.S491R|GOLGB1_uc011bjm.1_Missense_Mutation_p.S411R|GOLGB1_uc010hrd.1_Missense_Mutation_p.S489R	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	525	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CTTACCTCACTGACTTCTCTG	0.368													G	121418664	T	G	121418664	3	3	281	1	0	0	0	0	1	0	0	0	6565	1580	55	5	8250	5	GOLGB1	3	121418664	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	31961415	121418664	76603766	71	144950											
UROC1	131669	broad.mit.edu	37	chr3	126214935	126214935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttgtccatgtactgcagCttcacagacaccttcactgc	7	13	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:126214935C>A	uc003eiz.1	-	15	1487	c.1455G>T	c.(1453-1455)AAG>AAT	p.K485N	UROC1_uc010hsi.1_Missense_Mutation_p.K545N	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	485					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TGTACTGCAGCTTCACAGACA	0.657													A	126214935	C	A	126214935	3	1	281	1	0	0	0	0	1	0	0	0	17025	796	28	5	599	5	UROC1	3	126214935	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	4796271	126214935	71807495	72	144951											
XRN1	54464	broad.mit.edu	37	chr3	142133030	142133030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaagtacagcaagaaGctgttcaaatggcttaaaag	11	6	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:142133030G>T	uc003eus.2	-	14	1607	c.1540C>A	c.(1540-1542)CTT>ATT	p.L514I	XRN1_uc010huu.2_5'Flank|XRN1_uc003eut.2_Missense_Mutation_p.L514I|XRN1_uc003euu.2_Missense_Mutation_p.L514I|XRN1_uc003euv.1_Missense_Mutation_p.L375I	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	514					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			ovary(3)	3						ACAGCAAGAAGCTGTTCAAAT	0.358													T	142133030	G	T	142133030	3	4	281	1	0	0	0	0	1	0	0	0	17456	971	34	5	3696	5	XRN1	3	142133030	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	15918095	142133030	55889400	73	144952											
PLSCR2	57047	broad.mit.edu	37	chr3	146173129	146173129	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatcctcaaggtaaaaggtCtagaccgcccacagcaattt	7	11	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:146173129C>T	uc003evv.1	-	5	551	c.218G>A	c.(217-219)AGA>AAA	p.R73K	PLSCR2_uc003evw.1_Missense_Mutation_p.R142K	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	73	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0						GGTAAAAGGTCTAGACCGCCC	0.418													T	146173129	C	T	146173129	3	4	281	1	0	0	0	0	1	0	0	0	12110	913	32	4	472	4	PLSCR2	3	146173129	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	4040099	146173129	51849301	74	144953											
DNAJC19	131118	broad.mit.edu	37	chr3	180704741	180704741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attattttaccttacacctaGtattaatgctgcttcccgtt	4	10	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:180704741G>T	uc003fkt.2	-	4	339	c.199C>A	c.(199-201)CTA>ATA	p.L67I	DNAJC19_uc003fku.2_Intron	NM_145261	NP_660304	Q96DA6	TIM14_HUMAN	DnaJ homolog, subfamily C, member 19	67	J.|Mitochondrial matrix (Potential).				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding				0	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			CTTACACCTAGTATTAATGCT	0.363													T	180704741	G	T	180704741	3	4	281	1	0	0	0	0	1	0	0	0	4638	1020	36	5	163	5	DNAJC19	3	180704741	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	34531612	180704741	17317689	75	144954											
ATP13A5	344905	broad.mit.edu	37	chr3	192992921	192992921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggctttcatagcctccGttgatgtagaatccattttt	7	9	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:192992921G>A	uc011bsq.1	-	30	3567	c.3567C>T	c.(3565-3567)AAC>AAT	p.N1189N		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1189					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		CATAGCCTCCGTTGATGTAGA	0.433													A	192992921	G	A	192992921	2	1	281	1	0	0	0	0	0	0	0	1	1127	1136	40	1		1	ATP13A5	3	192992921	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	12288180	192992921	5029509	76	144955											
NKX3-2	579	broad.mit.edu	37	chr4	13543878	13543878	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaccagattttcacctgcgtCtcggtgagcttcagcgacgc	10	13	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:13543878C>G	uc003gmx.2	-	2	817	c.741G>C	c.(739-741)GAG>GAC	p.E247D		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	247	Homeobox.				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCACCTGCGTCTCGGTGAGCT	0.672													G	13543878	C	G	13543878	3	3	281	1	0	0	0	0	1	0	0	0	10456	912	32	5	264	5	NKX3-2	4	13543878	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		13543878	177610398	77	144956											
CWH43	80157	broad.mit.edu	37	chr4	49052744	49052744	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaatctcccatgctgaactGagtgattcagaaattcagat	8	8	3	6			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:49052744G>C	uc003gyv.2	+	15	2081	c.1899G>C	c.(1897-1899)CTG>CTC	p.L633L	CWH43_uc011bzl.1_Silent_p.L606L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	633					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ATGCTGAACTGAGTGATTCAG	0.383													C	49052744	G	C	49052744	2	2	281	1	0	0	0	0	0	0	0	1	4073	1277	45	5		5	CWH43	4	49052744	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	35508866	49052744	142101532	78	144957											
ANKRD17	26057	broad.mit.edu	37	chr4	73957880	73957880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagcagtggtggtaggtGctgatgaccctattttggaa	14	6	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:73957880G>A	uc003hgp.2	-	29	5582	c.5465C>T	c.(5464-5466)GCA>GTA	p.A1822V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1709V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1571V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1821V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1822					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			GGTGGTAGGTGCTGATGACCC	0.403													A	73957880	G	A	73957880	3	1	281	1	0	0	0	0	1	0	0	0	646	1319	46	2	2370	2	ANKRD17	4	73957880	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	24905136	73957880	117196396	79	144958											
ANKRD17	26057	broad.mit.edu	37	chr4	73957892	73957892	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtaggtgctgatgaccctAttttggaatttgctgaggag	14	5	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:73957892A>C	uc003hgp.2	-	29	5570	c.5453T>G	c.(5452-5454)ATA>AGA	p.I1818R	ANKRD17_uc003hgo.2_Missense_Mutation_p.I1705R|ANKRD17_uc003hgq.2_Missense_Mutation_p.I1567R|ANKRD17_uc003hgr.2_Missense_Mutation_p.I1817R	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1818					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			TGATGACCCTATTTTGGAATT	0.393													C	73957892	A	C	73957892	3	2	281	1	0	0	0	0	1	0	0	0	646	449	16	5	2382	5	ANKRD17	4	73957892	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	12	73957892	117196384	80	144959											
SEC31A	22872	broad.mit.edu	37	chr4	83763493	83763493	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgtgctgcgtacagctgaGactgcccagtataggaagaa	13	9	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:83763493G>T	uc003hnf.2	-	22	2932	c.2768C>A	c.(2767-2769)TCT>TAT	p.S923Y	SEC31A_uc003hnd.2_Missense_Mutation_p.S79Y|SEC31A_uc003hne.2_Missense_Mutation_p.S687Y|SEC31A_uc011ccl.1_Missense_Mutation_p.S884Y|SEC31A_uc003hnl.2_Intron|SEC31A_uc003hng.2_Missense_Mutation_p.S923Y|SEC31A_uc003hnh.2_Missense_Mutation_p.S923Y|SEC31A_uc003hni.2_Intron|SEC31A_uc003hnj.2_Missense_Mutation_p.S884Y|SEC31A_uc011ccm.1_Missense_Mutation_p.S918Y|SEC31A_uc011ccn.1_Missense_Mutation_p.S923Y|SEC31A_uc003hnk.2_Missense_Mutation_p.S884Y|SEC31A_uc003hnm.2_Missense_Mutation_p.S923Y	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	923	Interaction with PDCD6.|Pro-rich.				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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GTACAGCTGAGACTGCCCAGT	0.542													T	83763493	G	T	83763493	3	4	281	1	0	0	0	0	1	0	0	0	13998	942	33	5	918	5	SEC31A	4	83763493	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	9805601	83763493	107390783	81	144960											
LARP1B	55132	broad.mit.edu	37	chr4	129043260	129043260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaaatcacatctgaacttGctaaagttatcaatgatggc	6	8	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:129043260G>T	uc003iga.2	+	11	1572	c.1441G>T	c.(1441-1443)GCT>TCT	p.A481S	LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.A481S|LARP1B_uc003igb.1_Missense_Mutation_p.A196S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	481							RNA binding				0						ATCTGAACTTGCTAAAGTTAT	0.393													T	129043260	G	T	129043260	3	4	281	1	0	0	0	0	1	0	0	0	8629	1319	46	5	1564	5	LARP1B	4	129043260	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	45279767	129043260	62111016	82	144961											
NPY2R	4887	broad.mit.edu	37	chr4	156135770	156135770	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcttccttgttgatcTtgtatgttttgcctctgggc	9	9	4	1	rs149843372	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:156135770T>C	uc003ioq.2	+	2	1174	c.679T>C	c.(679-681)TTG>CTG	p.L227L	NPY2R_uc003ior.2_Silent_p.L227L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	227	Helical; Name=5; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTGTTGATCTTGTATGTTTT	0.448													C	156135770	T	C	156135770	2	2	281	1	0	0	0	0	0	0	0	1	10609	1606	56	3		3	NPY2R	4	156135770	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	27092510	156135770	35018506	83	144962											
FAT1	2195	broad.mit.edu	37	chr4	187549439	187549439	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaagcggtgaaccacGgggcgtggtcattcgtgtcg	18	8	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:187549439G>C	uc003izf.2	-	9	4867	c.4679C>G	c.(4678-4680)CCG>CGG	p.P1560R		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1560	Extracellular (Potential).|Cadherin 13.				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			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GGTGAACCACGGGGCGTGGTC	0.498										HNSCC(5;0.00058)			C	187549439	G	C	187549439	3	2	281	1	0	0	0	0	1	0	0	0	5689	1116	39	5	9163	5	FAT1	4	187549439	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	31413669	187549439	3604837	84	144963											
SLC12A7	10723	broad.mit.edu	37	chr5	1076859	1076859	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggcgatgaggatgccagtCtcgcagatgaggactgtcag	16	8	2	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:1076859C>G	uc003jbu.2	-	13	1764	c.1698G>C	c.(1696-1698)GAG>GAC	p.E566D		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	566	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	GGATGCCAGTCTCGCAGATGA	0.657													G	1076859	C	G	1076859	3	3	281	1	0	0	0	0	1	0	0	0	14388	912	32	5	1601	5	SLC12A7	5	1076859	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		1076859	179838401	85	144964											
GZMK	3003	broad.mit.edu	37	chr5	54327286	54327286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaatgcaaggttactgGctggggagccaccgatccag	12	11	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:54327286G>A	uc003jpl.1	+	4	502	c.458G>A	c.(457-459)GGC>GAC	p.G153D		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	153	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAGGTTACTGGCTGGGGAGCC	0.448													A	54327286	G	A	54327286	3	1	281	1	0	0	0	0	1	0	0	0	6918	1203	42	2	472	2	GZMK	5	54327286	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	53250427	54327286	126587974	86	144965											
JMY	133746	broad.mit.edu	37	chr5	78612029	78612029	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctacccgatacagaccctCtaacacggagcatccatgaa	6	14	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:78612029C>G	uc003kfx.3	+	10	3386	c.2866C>G	c.(2866-2868)CTA>GTA	p.L956V		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	956					'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				0		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)		TACAGACCCTCTAACACGGAG	0.428													G	78612029	C	G	78612029	3	3	281	1	0	0	0	0	1	0	0	0	7957	912	32	5	2904	5	JMY	5	78612029	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	24284743	78612029	102303231	87	144966											
GIN1	54826	broad.mit.edu	37	chr5	102433117	102433117	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtattatcaccatccacttcAtgaagactatctgaagtctc	5	11	4	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:102433117A>T	uc003koa.1	-	6	991	c.909T>A	c.(907-909)CAT>CAA	p.H303Q	GIN1_uc003kob.1_Missense_Mutation_p.H156Q|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	303					DNA integration		DNA binding			ovary(1)|skin(1)	2		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)		CATCCACTTCATGAAGACTAT	0.328													T	102433117	A	T	102433117	3	4	281	1	0	0	0	0	1	0	0	0	6386	214	8	5	671	5	GIN1	5	102433117	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	23821088	102433117	78482143	88	144967											
SNCAIP	9627	broad.mit.edu	37	chr5	121739486	121739486	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctggcttcccgttcAgtattcagtcacatcactca	5	14	7	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:121739486A>C	uc003ksw.1	+	3	264	c.58_splice	c.e3-2	p.Y20_splice	SNCAIP_uc011cwl.1_Splice_Site|SNCAIP_uc010jct.2_Splice_Site_p.Y20_splice|SNCAIP_uc003ksx.1_Splice_Site_p.Y67_splice|SNCAIP_uc003ksy.1_Splice_Site_p.L4_splice|SNCAIP_uc003ksz.1_Splice_Site_p.L4_splice|SNCAIP_uc010jcu.2_Splice_Site_p.L4_splice|SNCAIP_uc011cwm.1_Splice_Site_p.L4_splice|SNCAIP_uc003kta.1_Splice_Site_p.S2_splice|SNCAIP_uc010jcv.1_Splice_Site|SNCAIP_uc010jcw.1_Splice_Site_p.L4_splice|SNCAIP_uc010jcx.1_Splice_Site_p.Y20_splice	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein						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			ovary(1)|pancreas(1)	2		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)		CTTCCCGTTCAGTATTCAGTC	0.438													C	121739486	A	C	121739486	5	2	281	1	0	0	0	0	0	0	1	0	14841	202	7	5	62	5	SNCAIP	5	121739486	Splice_Site	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	19306369	121739486	59175774	89	144968											
PCDHA1	56147	broad.mit.edu	37	chr5	140167155	140167155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgagctggtggtgaccgCgcgggacgggggctcgcctt	18	11	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:140167155C>T	uc003lhb.2	+	1	1280	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	PCDHA1_uc003lha.2_Missense_Mutation_p.A427V|PCDHA1_uc003lgz.2_Missense_Mutation_p.A427V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGACCGCGCGGGACGGG	0.647													T	140167155	C	T	140167155	3	4	281	1	0	0	0	0	1	0	0	0	11519	768	27	1	1282	1	PCDHA1	5	140167155	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	18427669	140167155	40748105	90	144969											
PCDHB15	56121	broad.mit.edu	37	chr5	140626809	140626809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctggtgctggacgccAacgacaactcgcccttcgtg	13	13	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:140626809A>C	uc003lje.2	+	1	1663	c.1663A>C	c.(1663-1665)AAC>CAC	p.N555H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACGCCAACGACAACTC	0.716													C	140626809	A	C	140626809	3	2	281	1	0	0	0	0	1	0	0	0	11540	130	5	5	1665	5	PCDHB15	5	140626809	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	459654	140626809	40288451	91	144970											
ABLIM3	22885	broad.mit.edu	37	chr5	148627430	148627430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatccctggacccctccccGgagctccaccagcagccggg	11	19	0	1	rs138587496		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:148627430G>A	uc003lpy.2	+	18	1888	c.1637G>A	c.(1636-1638)CGG>CAG	p.R546Q	ABLIM3_uc003lpz.1_Missense_Mutation_p.R546Q|ABLIM3_uc003lqa.1_Missense_Mutation_p.R443Q|ABLIM3_uc003lqb.2_Missense_Mutation_p.R435Q|ABLIM3_uc003lqc.1_Missense_Mutation_p.R513Q|ABLIM3_uc003lqd.1_Missense_Mutation_p.R451Q|ABLIM3_uc003lqf.2_Missense_Mutation_p.R435Q|ABLIM3_uc003lqe.1_Missense_Mutation_p.R435Q	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	546					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCTCCCCGGAGCTCCACC	0.612													A	148627430	G	A	148627430	3	1	281	1	0	0	0	0	1	0	0	0	96	1116	39	1	1703	1	ABLIM3	5	148627430	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	8000621	148627430	32287830	92	144971											
ATP10B	23120	broad.mit.edu	37	chr5	160029611	160029611	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagaggtagtacaccacCatcctggccaggcgcgagta	12	11	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:160029611C>G	uc003lym.1	-	21	4183	c.3336G>C	c.(3334-3336)ATG>ATC	p.M1112I	ATP10B_uc010jit.1_Missense_Mutation_p.M429I	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1112	Helical; (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	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)			AGTACACCACCATCCTGGCCA	0.572													G	160029611	C	G	160029611	3	3	281	1	0	0	0	0	1	0	0	0	1117	594	21	5	1073	5	ATP10B	5	160029611	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	11402181	160029611	20885649	93	144972											
DUSP22	56940	broad.mit.edu	37	chr6	311948	311948	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtccacgatagtgccAggcctatgttggaggtaaga	13	8	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:311948A>C	uc003msx.2	+	3	563	c.124A>C	c.(124-126)AGG>CGG	p.R42R	DUSP22_uc011dhn.1_Silent_p.R42R|DUSP22_uc003msy.1_5'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	42					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			ovary(1)|kidney(1)|central_nervous_system(1)	3	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)		CGATAGTGCCAGGCCTATGTT	0.502													C	311948	A	C	311948	2	2	281	1	0	0	0	0	0	0	0	1	4821	179	7	5		5	DUSP22	6	311948	Silent	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08		311948	170803119	94	144973											
DSP	1832	broad.mit.edu	37	chr6	7574926	7574926	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcactgctccaggctattctCcaaacagaagacatgttaaa	7	11	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:7574926C>A	uc003mxp.1	+	17	2613	c.2334C>A	c.(2332-2334)CTC>CTA	p.L778L	DSP_uc003mxq.1_Silent_p.L778L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	778	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGCTATTCTCCAAACAGAAG	0.453													A	7574926	C	A	7574926	2	1	281	1	0	0	0	0	0	0	0	1	4781	842	30	5		5	DSP	6	7574926	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	7262978	7574926	163540141	95	144974											
GABBR1	2550	broad.mit.edu	37	chr6	29574171	29574171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacatcccacacaccaaGccatgtattcatcttcctgg	5	17	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:29574171G>A	uc003nmt.3	-	19	2644	c.2308C>T	c.(2308-2310)CTT>TTT	p.L770F	GABBR1_uc003nmp.3_Missense_Mutation_p.L653F|GABBR1_uc003nms.3_Missense_Mutation_p.L653F|GABBR1_uc003nmu.3_Missense_Mutation_p.L708F|GABBR1_uc011dlr.1_Missense_Mutation_p.L593F	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	770	Helical; Name=5; (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CACACACCAAGCCATGTATTC	0.547													A	29574171	G	A	29574171	3	1	281	1	0	0	0	0	1	0	0	0	6155	971	34	2	597	2	GABBR1	6	29574171	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	21999245	29574171	141540896	96	144975											
HLA-E	3133	broad.mit.edu	37	chr6	30459040	30459040	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatggggagggccataCccaggacacggagctcgtgg	18	10	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:30459040C>G	uc003nqg.2	+	4	775	c.737C>G	c.(736-738)ACC>AGC	p.T246S	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.T287S	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	246	Ig-like C1-type.|Alpha-3.|Extracellular (Potential).				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			central_nervous_system(4)|ovary(1)	5						GAGGGCCATACCCAGGACACG	0.632													G	30459040	C	G	30459040	3	3	281	1	0	0	0	0	1	0	0	0	7210	507	18	5	751	5	HLA-E	6	30459040	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	884869	30459040	140656027	97	144976											
NCR3	259197	broad.mit.edu	37	chr6	31556854	31556854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatcaggctcagcctcctGggactgggggaagcagatgt	14	10	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:31556854G>T	uc003nuv.2	-	4	860	c.596C>A	c.(595-597)CCA>CAA	p.P199Q	NCR3_uc003nuw.2_3'UTR	NM_147130	NP_667341	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	199	Cytoplasmic (Potential).				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						TCAGCCTCCTGGGACTGGGGG	0.597													T	31556854	G	T	31556854	3	4	281	1	0	0	0	0	1	0	0	0	10239	1348	47	5	13	5	NCR3	6	31556854	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1097814	31556854	139558213	98	144977											
AGER	177	broad.mit.edu	37	chr6	32148965	32148975	+	Frame_Shift_Del	DEL	CTGATTCAGTT	CTGATTCAGTT	-													cctgcctcaggttcctccgaCtgattcagttctgcacgctc							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:32148964_32148974ACTGATTCAGTT>A	uc003oal.2	-	10	1261_1271	c.1161_1171AACTGAATCAGT>T	c.(1159-1173)gaactgaatcagtcgfs	p.E387fs	AGER_uc021yvm.1_3'UTR|AGER_uc021yvn.1_3'UTR|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_Frame_Shift_Del_p.E195fs|AGER_uc021yvq.1_3'UTR|AGER_uc011dpn.2_Stop_Codon_Del|AGER_uc011dpm.2_Frame_Shift_Del_p.E277fs|AGER_uc003oap.2_Frame_Shift_Del_p.E403fs|AGER_uc021yvr.1_Intron|AGER_uc003oam.2_Non-coding_Transcript|AGER_uc003oau.2_3'UTR|AGER_uc003oas.2_Stop_Codon_Del|AGER_uc010jtv.2_Stop_Codon_Del|AGER_uc003oar.3_Frame_Shift_Del_p.E286fs|AGER_uc003oaq.2_Frame_Shift_Del_p.E373fs|AGER_uc003oat.2_3'UTR|AGER_uc003oan.2_Frame_Shift_Del_p.T336fs|AGER_uc011dpo.2_Stop_Codon_Del|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_3'UTR	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	387					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	p.L388M(2)		breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GGTTCCTCCGACTGATTCAGTTCTGCACGCT	0.573													-	32148975	CTGATTCAGTT	-	32148965	7	5	281	1	0	1	0	1	0	0	0	0	379	565	20	0	48	0	AGER	6	32148965	Frame_Shift_Del	DEL	CTGATTCAGTT	TCGA-HU-A4H5-01A-21D-A25D-08	592111	32148965	138966102	99	144978											
TAP2	6891	broad.mit.edu	37	chr6	32782949	32782949	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcatctggctgccccagcTtggtcaatgccacaaacatc	8	15	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:32782949T>A	uc011dqf.1	-	13	2176	c.2054A>T	c.(2053-2055)AAG>ATG	p.K685M	HLA-DOB_uc003oca.2_Missense_Mutation_p.K78M|HLA-DOB_uc011dqg.1_Missense_Mutation_p.K78M	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					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				0						CTGCCCCAGCTTGGTCAATGC	0.527													A	32782949	T	A	32782949	3	1	281	1	0	0	0	0	1	0	0	0	15548	1609	56	5		5	TAP2	6	32782949	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	633984	32782949	138332118	100	144979											
ITPR3	3710	broad.mit.edu	37	chr6	33652701	33652701	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccatccacctgctggatgGtggcaacacagagatccagg	13	12	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:33652701G>C	uc011drk.1	+	39	5507	c.5288G>C	c.(5287-5289)GGT>GCT	p.G1763A	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1763	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CTGCTGGATGGTGGCAACACA	0.607													C	33652701	G	C	33652701	3	2	281	1	0	0	0	0	1	0	0	0	7922	1261	44	5	5442	5	ITPR3	6	33652701	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	869752	33652701	137462366	101	144980											
TCP11	6954	broad.mit.edu	37	chr6	35088008	35088022	+	In_Frame_Del	DEL	AAAACACTGCCGGAG	AAAACACTGCCGGAG	-													caaattggggtgagccaaacAaaacactgccggagaaacta					rs2234046	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:35088008_35088022delAAAACACTGCCGGAG	uc003okd.2	-	8	1249_1263	c.1068_1082delCTCCGGCAGTGTTTT	c.(1066-1083)TTCTCCGGCAGTGTTTTG>TTG	p.FSGSV356del	TCP11_uc003ojz.1_In_Frame_Del_p.FSGSV281del|TCP11_uc003oka.2_In_Frame_Del_p.FSGSV281del|TCP11_uc003okb.2_In_Frame_Del_p.FSGSV280del|TCP11_uc003okc.2_In_Frame_Del_p.FSGSV280del|TCP11_uc011dsu.1_In_Frame_Del_p.FSGSV338del|TCP11_uc011dsv.1_In_Frame_Del_p.FSGSV305del|TCP11_uc011dsw.1_In_Frame_Del_p.FSGSV310del	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	343_347	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						TGAGCCAAACAAAACACTGCCGGAGAAACTACTGG	0.493													-	35088022	AAAACACTGCCGGAG	-	35088008	7	5	281	1	0	1	0	1	0	0	0	0	15710	131	5	0	480	0	TCP11	6	35088008	In_Frame_Del	DEL	AAAACACTGCCGGAG	TCGA-HU-A4H5-01A-21D-A25D-08	1435307	35088008	136027059	102	144981											
DEFB110	245913	broad.mit.edu	37	chr6	49976974	49976974	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctatactttggttcaaaAttgcttctggctgcaatcaa	6	8	4	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:49976974A>G	uc011dwr.1	-	2	112	c.66T>C	c.(64-66)AAT>AAC	p.N22N		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform b	22					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					TTGGTTCAAAATTGCTTCTGG	0.303													G	49976974	A	G	49976974	2	3	281	1	0	0	0	0	0	0	0	1	4400	98	4	3		3	DEFB110	6	49976974	Silent	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	14888966	49976974	121138093	103	144982											
ICK	22858	broad.mit.edu	37	chr6	52905948	52905948	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttactttttaatagcgatCagctccccagactcaatgct	5	12	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:52905948C>A	uc003pbh.2	-	3	577	c.87G>T	c.(85-87)CTG>CTT	p.L29L	ICK_uc003pbi.2_Silent_p.L29L|ICK_uc003pbj.2_Silent_p.L29L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	29	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TAATAGCGATCAGCTCCCCAG	0.468													A	52905948	C	A	52905948	2	1	281	1	0	0	0	0	0	0	0	1	7484	813	29	5		5	ICK	6	52905948	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	2928974	52905948	118209119	104	144983											
B3GAT2	135152	broad.mit.edu	37	chr6	71571445	71571450	+	In_Frame_Del	DEL	ACGAGA	ACGAGA	-													tctctgtccgagtgtgccacAcgagaacctgaaggggaagg							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:71571444_71571449CACGAGA>C	uc003pfw.3	-	2	1625_1630	c.969_974TCTCGTG>G	c.(967-975)ttctcgtgt>ttGt	p.323_325FSC>L	SMAP1_uc003pfr.3_3'UTR|SMAP1_uc003pfs.3_3'UTR|SMAP1_uc010kao.3_3'UTR|SMAP1_uc010kap.3_3'UTR|B3GAT2_uc003pfv.3_In_Frame_Del_p.LV297del			Q9NPZ5	B3GA2_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) (B3GAT2), mRNA.	0					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						GAGTGTGCCACACGAGAACCTGAAGG	0.481													-	71571450	ACGAGA	-	71571445	7	5	281	1	0	1	0	1	0	0	0	0	1254	159	6	0	82	0	B3GAT2	6	71571445	In_Frame_Del	DEL	ACGAGA	TCGA-HU-A4H5-01A-21D-A25D-08	18665497	71571445	99543622	105	144984											
PRSS35	167681	broad.mit.edu	37	chr6	84234250	84234250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacaaaaagaattggaagCgcaaaatcattgcggtctac	9	8	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:84234250C>T	uc003pjz.2	+	2	1253	c.1090C>T	c.(1090-1092)CGC>TGC	p.R364C	PRSS35_uc010kbm.2_Missense_Mutation_p.R364C	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	364	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		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)		GAATTGGAAGCGCAAAATCAT	0.512													T	84234250	C	T	84234250	3	4	281	1	0	0	0	0	1	0	0	0	12624	768	27	1	1092	1	PRSS35	6	84234250	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	12662805	84234250	86880817	106	144985											
BACH2	60468	broad.mit.edu	37	chr6	90661069	90661069	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccggaatgtgcttgcaaaAcctgaggtactgtgtgatga	12	8	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:90661069A>C	uc011eab.1	-	7	1565	c.756T>G	c.(754-756)GGT>GGG	p.G252G	BACH2_uc003pnw.2_Silent_p.G252G|BACH2_uc010kch.2_Silent_p.G252G	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	252						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		TGCTTGCAAAACCTGAGGTAC	0.493													C	90661069	A	C	90661069	2	2	281	1	0	0	0	0	0	0	0	1	1284	30	2	5		5	BACH2	6	90661069	Silent	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	6426819	90661069	80453998	107	144986											
LATS1	9113	broad.mit.edu	37	chr6	149983002	149983002	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attatatgggtagccattgtCatcaaaaaaccttcggaagg	9	7	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:149983002C>A	uc003qmu.1	-	8	3804	c.3256G>T	c.(3256-3258)GAC>TAC	p.D1086Y	LATS1_uc010kif.1_Missense_Mutation_p.D981Y	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1086	AGC-kinase C-terminal.				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			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAGCCATTGTCATCAAAAAAC	0.373													A	149983002	C	A	149983002	3	1	281	1	0	0	0	0	1	0	0	0	8646	826	29	5	140	5	LATS1	6	149983002	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	59321933	149983002	21132065	108	144987											
SYNE1	23345	broad.mit.edu	37	chr6	152653023	152653023	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagctgtactctctgcatcaGatctgaaaatacatggaaag	8	9	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:152653023G>A	uc010kiw.2	-	78	13399	c.12797C>T	c.(12796-12798)TCT>TTT	p.S4266F	SYNE1_uc003qot.3_Missense_Mutation_p.S4195F|SYNE1_uc003qou.3_Missense_Mutation_p.S4266F|SYNE1_uc010kiz.2_Missense_Mutation_p.S21F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4266	Cytoplasmic (Potential).|Spectrin 12.				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGCATCAGATCTGAAAAT	0.348										HNSCC(10;0.0054)			A	152653023	G	A	152653023	3	1	281	1	0	0	0	0	1	0	0	0	15442	942	33	4	13945	4	SYNE1	6	152653023	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2670021	152653023	18462044	109	144988											
VIP	7432	broad.mit.edu	37	chr6	153073373	153073373	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctcagtgtgctcttcTcacagacttcggcatggcct	8	14	4	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:153073373T>A	uc003qpe.2	+	2	233	c.61T>A	c.(61-63)TCA>ACA	p.S21T	VIP_uc003qpf.2_Missense_Mutation_p.S21T|VIP_uc010kjd.2_Missense_Mutation_p.S21T	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	21					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TGTGCTCTTCTCACAGACTTC	0.473													A	153073373	T	A	153073373	3	1	281	1	0	0	0	0	1	0	0	0	17164	1551	54	5	63	5	VIP	6	153073373	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	420350	153073373	18041694	110	144989											
TULP4	56995	broad.mit.edu	37	chr6	158923411	158923411	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgccggccccgcaccCggatgctgtgctcccagaac	13	16	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:158923411C>A	uc003qrf.2	+	13	4073	c.2716C>A	c.(2716-2718)CGG>AGG	p.R906R	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	906					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		GCCCCGCACCCGGATGCTGTG	0.652													A	158923411	C	A	158923411	2	1	281	1	0	0	0	0	0	0	0	1	16773	643	23	5		5	TULP4	6	158923411	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	5850038	158923411	12191656	111	144990											
CARD11	84433	broad.mit.edu	37	chr7	2962848	2962848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcacgaagctccctcgcGcgttgccccccagcagggtg	13	16	0	0	rs41493047	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:2962848G>A	uc003smv.2	-	16	2464	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	687	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			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCCCTCGCGCGTTGCCCCC	0.697			Mis		DLBCL								A	2962848	G	A	2962848	3	1	281	1	0	0	0	0	1	0	0	0	2645	1087	38	1	1444	1	CARD11	7	2962848	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08		2962848	156175815	112	144991											
MMD2	221938	broad.mit.edu	37	chr7	4949532	4949532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagaggatgaccagggCggggaagaagcccattacga	16	8	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:4949532C>T	uc003sno.3	-	6	785	c.589G>A	c.(589-591)GCC>ACC	p.A197T	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.A173T|MMD2_uc010ksq.2_Missense_Mutation_p.A173T	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	197	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ATGACCAGGGCGGGGAAGAAG	0.478													T	4949532	C	T	4949532	3	4	281	1	0	0	0	0	1	0	0	0	9644	768	27	1	231	1	MMD2	7	4949532	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1986684	4949532	154189131	113	144992											
FSCN1	6624	broad.mit.edu	37	chr7	5632769	5632769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcgcagccacctgggcCgctacctggcggcggacaag	15	16	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:5632769C>T	uc003sou.2	+	1	316	c.202C>T	c.(202-204)CGC>TGC	p.R68C		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	68					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCACCTGGGCCGCTACCTGGC	0.711													T	5632769	C	T	5632769	3	4	281	1	0	0	0	0	1	0	0	0	6067	652	23	1	204	1	FSCN1	7	5632769	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	683237	5632769	153505894	114	144993											
HDAC9	9734	broad.mit.edu	37	chr7	18688166	18688166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattagaggtacccacaaaTtgccccgtcacagacccctg	8	15	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:18688166T>C	uc003suh.2	+	10	1359	c.1318T>C	c.(1318-1320)TTG>CTG	p.L440L	HDAC9_uc003sue.2_Silent_p.L440L|HDAC9_uc011jyd.1_Silent_p.L440L|HDAC9_uc003sui.2_Silent_p.L443L|HDAC9_uc003suj.2_Silent_p.L399L|HDAC9_uc011jya.1_Silent_p.L437L|HDAC9_uc003sua.1_Silent_p.L418L|HDAC9_uc011jyb.1_Silent_p.L396L|HDAC9_uc003sud.1_Silent_p.L440L|HDAC9_uc011jyc.1_Silent_p.L399L|HDAC9_uc003suf.1_Silent_p.L471L|HDAC9_uc010kud.1_Silent_p.L443L|HDAC9_uc011jye.1_Silent_p.L412L|HDAC9_uc011jyf.1_Silent_p.L363L|HDAC9_uc010kue.1_Silent_p.L183L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	440					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|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			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TACCCACAAATTGCCCCGTCA	0.478													C	18688166	T	C	18688166	2	2	281	1	0	0	0	0	0	0	0	1	7014	1490	52	3		3	HDAC9	7	18688166	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	13055397	18688166	140450497	115	144994											
DNAH11	8701	broad.mit.edu	37	chr7	21775375	21775375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgggaaaaacagtctttGtaggtgacacattggcaagt	13	5	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:21775375G>T	uc003svc.2	+	47	7610	c.7579G>T	c.(7579-7581)GTA>TTA	p.V2527L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2527	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AACAGTCTTTGTAGGTGACAC	0.438									Kartagener_syndrome				T	21775375	G	T	21775375	3	4	281	1	0	0	0	0	1	0	0	0	4599	1377	48	5	7762	5	DNAH11	7	21775375	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3087209	21775375	137363288	116	144995											
POMZP3	22932	broad.mit.edu	37	chr7	76254944	76254944	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtacagtctcctttgcacatGggtctggggcattacttgat	11	9	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:76254944G>C	uc003uft.2	-	3	869	c.122C>G	c.(121-123)CCA>CGA	p.P41R	uc003ufs.1_Intron|POMZP3_uc003ufu.2_Missense_Mutation_p.P41R|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	POMZP3 fusion protein isoform 1	41											0		Myeloproliferative disorder(862;0.204)				CTTTGCACATGGGTCTGGGGC	0.418													C	76254944	G	C	76254944	3	2	281	1	0	0	0	0	1	0	0	0	12247	1348	47	5	464	5	POMZP3	7	76254944	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	54479569	76254944	82883719	117	144996											
FGL2	10875	broad.mit.edu	37	chr7	76828646	76828646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcttctccaggcgaccAtgaagtacattgatctcctc	7	13	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:76828646A>G	uc003ugb.2	-	1	505	c.465T>C	c.(463-465)CAT>CAC	p.H155H	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	155	Potential.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						CCAGGCGACCATGAAGTACAT	0.393													G	76828646	A	G	76828646	2	3	281	1	0	0	0	0	0	0	0	1	5873	214	8	3		3	FGL2	7	76828646	Silent	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	573702	76828646	82310017	118	144997											
PCLO	27445	broad.mit.edu	37	chr7	82545735	82545735	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtttggggagcagttcttGgtcgctcaatgccatgctga	13	9	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:82545735G>C	uc003uhx.2	-	7	11856	c.11567C>G	c.(11566-11568)CCA>CGA	p.P3856R	PCLO_uc003uhv.2_Missense_Mutation_p.P3856R|PCLO_uc010lec.2_Missense_Mutation_p.P821R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3787					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGCAGTTCTTGGTCGCTCAAT	0.468													C	82545735	G	C	82545735	3	2	281	1	0	0	0	0	1	0	0	0	11583	1348	47	5	3954	5	PCLO	7	82545735	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	5717089	82545735	76592928	119	144998											
PCLO	27445	broad.mit.edu	37	chr7	82585418	82585418	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatcttcatcaatgctTgtgctactttttcgagtcag	7	11	4	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:82585418T>G	uc003uhx.2	-	5	5140	c.4851A>C	c.(4849-4851)ACA>ACC	p.T1617T	PCLO_uc003uhv.2_Silent_p.T1617T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1548					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CATCAATGCTTGTGCTACTTT	0.408													G	82585418	T	G	82585418	2	3	281	1	0	0	0	0	0	0	0	1	11583	1799	63	5		5	PCLO	7	82585418	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	39683	82585418	76553245	120	144999											
SAMD9L	219285	broad.mit.edu	37	chr7	92763387	92763387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacgggcgggcaaaaacCttcttgatgaccgagtcacc	10	13	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:92763387C>T	uc003umh.1	-	5	3114	c.1898G>A	c.(1897-1899)AGG>AAG	p.R633K	SAMD9L_uc003umj.1_Missense_Mutation_p.R633K|SAMD9L_uc003umi.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfb.1_Missense_Mutation_p.R633K|SAMD9L_uc003umk.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfc.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfd.1_Missense_Mutation_p.R633K|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	633										ovary(4)	4	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)			GGGCAAAAACCTTCTTGATGA	0.398													T	92763387	C	T	92763387	3	4	281	1	0	0	0	0	1	0	0	0	13827	681	24	4	2860	4	SAMD9L	7	92763387	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	10177969	92763387	66375276	121	145000											
NPTX2	4885	broad.mit.edu	37	chr7	98256551	98256551	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctggacgacacgggatggCatgtgggaggcattccagga	16	9	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:98256551C>A	uc003upl.2	+	4	1140	c.963C>A	c.(961-963)GGC>GGA	p.G321G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	321	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	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)			CACGGGATGGCATGTGGGAGG	0.622													A	98256551	C	A	98256551	2	1	281	1	0	0	0	0	0	0	0	1	10603	697	25	5		5	NPTX2	7	98256551	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	5493164	98256551	60882112	122	145001											
PLOD3	8985	broad.mit.edu	37	chr7	100859255	100859255	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtcatcatccttgtacttCcactggcgcacgatttggtg	9	12	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:100859255C>T	uc003uyd.2	-	5	1005	c.549G>A	c.(547-549)TGG>TGA	p.W183*	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	183					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTTGTACTTCCACTGGCGCA	0.612													T	100859255	C	T	100859255	4	4	281	1	0	0	0	0	0	1	0	0	12103	856	30	4	1727	4	PLOD3	7	100859255	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	2602704	100859255	58279408	123	145002											
LHFPL3	375612	broad.mit.edu	37	chr7	103969641	103969641	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacacggccactgtgtaCaagatatgtgcctggatgca	11	10	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:103969641C>A	uc003vce.2	+	1	538	c.414C>A	c.(412-414)TAC>TAA	p.Y138*	LHFPL3_uc003vcf.2_Nonsense_Mutation_p.Y138*	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	124						integral to membrane					0						CCACTGTGTACAAGATATGTG	0.607													A	103969641	C	A	103969641	4	1	281	1	0	0	0	0	0	1	0	0	8766	489	17	5	416	5	LHFPL3	7	103969641	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	3110386	103969641	55169022	124	145003											
KIAA1549	57670	broad.mit.edu	37	chr7	138566147	138566147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taataaccttcctctgtgacGaacattcttggaagggatct	8	9	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:138566147G>A	uc011kql.1	-	11	4265	c.4216C>T	c.(4216-4218)CGT>TGT	p.R1406C	KIAA1549_uc011kqi.1_Missense_Mutation_p.R190C|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1356C|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1406C|KIAA1549_uc011kqk.1_Missense_Mutation_p.R190C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1406						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CCTCTGTGACGAACATTCTTG	0.502			O	BRAF	pilocytic astrocytoma								A	138566147	G	A	138566147	3	1	281	1	0	0	0	0	1	0	0	0	8244	1058	37	1	1676	1	KIAA1549	7	138566147	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	34596506	138566147	20572516	125	145004											
TAS2R4	50832	broad.mit.edu	37	chr7	141478478	141478478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgctgggactatttctgGtgaacaccatctacttcgtc	8	10	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:141478478G>A	uc003vwq.1	+	1	190	c.190G>A	c.(190-192)GTG>ATG	p.V64M		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	64	Helical; Name=2; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ACTATTTCTGGTGAACACCAT	0.433													A	141478478	G	A	141478478	3	1	281	1	0	0	0	0	1	0	0	0	15574	1261	44	4	192	4	TAS2R4	7	141478478	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2912331	141478478	17660185	126	145005											
EPHB6	2051	broad.mit.edu	37	chr7	142566048	142566048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctacgaggacccctgtcaGgccatccgagaacttgcccg	10	16	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:142566048G>T	uc011kst.1	+	14	2755	c.1968G>T	c.(1966-1968)CAG>CAT	p.Q656H	EPHB6_uc011ksu.1_Missense_Mutation_p.Q656H|EPHB6_uc003wbs.2_Missense_Mutation_p.Q364H|EPHB6_uc003wbt.2_Missense_Mutation_p.Q130H|EPHB6_uc003wbu.2_Missense_Mutation_p.Q364H|EPHB6_uc003wbv.2_Missense_Mutation_p.Q40H	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	656	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					ACCCCTGTCAGGCCATCCGAG	0.557													T	142566048	G	T	142566048	3	4	281	1	0	0	0	0	1	0	0	0	5178	991	35	5	2006	5	EPHB6	7	142566048	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1087570	142566048	16572615	127	145006											
TRPV6	55503	broad.mit.edu	37	chr7	142573524	142573524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatacctcccgcttcttgGtggtgatgataagttccagc	10	12	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:142573524G>A	uc003wbx.1	-	7	1112	c.896C>T	c.(895-897)ACC>ATC	p.T299I	TRPV6_uc003wbw.1_Missense_Mutation_p.T85I|TRPV6_uc010lou.1_Missense_Mutation_p.T170I	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	299	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CCGCTTCTTGGTGGTGATGAT	0.572													A	142573524	G	A	142573524	3	1	281	1	0	0	0	0	1	0	0	0	16597	1261	44	4	1317	4	TRPV6	7	142573524	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	7476	142573524	16565139	128	145007											
CNTNAP2	26047	broad.mit.edu	37	chr7	147183113	147183113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgatgagacaggatacaGtggggccacctgccacaact	12	10	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:147183113G>A	uc003weu.1	+	11	2273	c.1757G>A	c.(1756-1758)AGT>AAT	p.S586N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	586	EGF-like 1.|Extracellular (Potential).				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			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			ACAGGATACAGTGGGGCCACC	0.463										HNSCC(39;0.1)			A	147183113	G	A	147183113	3	1	281	1	0	0	0	0	1	0	0	0	3647	1029	36	4	1799	4	CNTNAP2	7	147183113	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	4609589	147183113	11955550	129	145008											
EZH2	2146	broad.mit.edu	37	chr7	148543680	148543680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattttctgacgattggaaCtaaacatactcttaaaaaaa	4	6	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:148543680C>A	uc003wfd.1	-	3	294	c.128G>T	c.(127-129)AGT>ATT	p.S43I	EZH2_uc011kug.1_Missense_Mutation_p.S43I|EZH2_uc003wfb.1_Missense_Mutation_p.S43I|EZH2_uc003wfc.1_Missense_Mutation_p.S43I|EZH2_uc011kuh.1_Missense_Mutation_p.S43I|EZH2_uc011kui.1_Missense_Mutation_p.S43I|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	43	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).				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			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACGATTGGAACTAAACATACT	0.353			Mis		DLBCL								A	148543680	C	A	148543680	3	1	281	1	0	0	0	0	1	0	0	0	5334	565	20	5	2199	5	EZH2	7	148543680	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1360567	148543680	10594983	130	145009											
SSPO	23145	broad.mit.edu	37	chr7	149474038	149474038	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagacctccagaaacccGgcctgccaagtggaaccgga	12	14	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:149474038G>C	uc010lpk.2	+	3	248	c.248G>C	c.(247-249)CGG>CCG	p.R83P	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	83	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGAAACCCGGCCTGCCAAG	0.632													C	149474038	G	C	149474038	3	2	281	1	0	0	0	0	1	0	0	0	15188	1116	39	5	258	5	SSPO	7	149474038	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	930358	149474038	9664625	131	145010											
EN2	2020	broad.mit.edu	37	chr7	155255080	155255080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccaggtcccaggtctcgaAaaccaaagaagaagaacccg	9	13	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:155255080A>G	uc003wmb.2	+	2	949	c.700A>G	c.(700-702)AAA>GAA	p.K234E		NM_001427	NP_001418	P19622	HME2_HUMAN	engrailed homeobox 2	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	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)		CAGGTCTCGAAAACCAAAGAA	0.512													G	155255080	A	G	155255080	3	3	281	1	0	0	0	0	1	0	0	0	5110	15	1	3	706	3	EN2	7	155255080	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	5781042	155255080	3883583	132	145011											
SGK223	157285	broad.mit.edu	37	chr8	8234613	8234613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccttggccctgggcagCagctgcatgttctatcttgg	13	12	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:8234613C>T	uc003wsh.3	-	2	1306	c.1306G>A	c.(1306-1308)GCT>ACT	p.A436T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	436	Poly-Ala.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCCTGGGCAGCAGCTGCATGT	0.607													T	8234613	C	T	8234613	3	4	281	1	0	0	0	0	1	0	0	0	14210	710	25	2	2918	2	SGK223	8	8234613	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		8234613	138129409	133	145012											
GFRA2	2675	broad.mit.edu	37	chr8	21560414	21560414	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccacccgaggggccTgggtggcctggaacgagggg	17	12	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:21560414T>A	uc003wzu.1	-	7	1796	c.1121A>T	c.(1120-1122)CAG>CTG	p.Q374L	GFRA2_uc003wzv.1_Missense_Mutation_p.Q269L|GFRA2_uc003wzw.1_Missense_Mutation_p.Q241L	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	374						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCGAGGGGCCTGGGTGGCCTG	0.627													A	21560414	T	A	21560414	3	1	281	1	0	0	0	0	1	0	0	0	6348	1580	55	5	285	5	GFRA2	8	21560414	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	13325801	21560414	124803608	134	145013											
FGF17	8822	broad.mit.edu	37	chr8	21905563	21905563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgagggctggttcatgGccttcacgcggcaggggcgg	19	11	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:21905563G>A	uc003xag.2	+	5	466	c.454G>A	c.(454-456)GCC>ACC	p.A152T	FGF17_uc003xah.2_Missense_Mutation_p.A141T|FGF17_uc003xai.2_Missense_Mutation_p.A175T	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	152					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				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTGGTTCATGGCCTTCACGCG	0.657													A	21905563	G	A	21905563	3	1	281	1	0	0	0	0	1	0	0	0	5845	1203	42	2	472	2	FGF17	8	21905563	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	345149	21905563	124458459	135	145014											
NEFM	4741	broad.mit.edu	37	chr8	24774588	24774588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttagaaaactcctggaggGtgaagagactagatttagca	11	7	0	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:24774588G>T	uc003xed.3	+	3	1253	c.1220G>T	c.(1219-1221)GGT>GTT	p.G407V	NEFM_uc011lac.1_Missense_Mutation_p.G407V|NEFM_uc010lue.2_Missense_Mutation_p.G31V	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	407	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		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)		CTCCTGGAGGGTGAAGAGACT	0.423													T	24774588	G	T	24774588	3	4	281	1	0	0	0	0	1	0	0	0	10316	1261	44	5	1230	5	NEFM	8	24774588	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2869025	24774588	121589434	136	145015											
XKR4	114786	broad.mit.edu	37	chr8	56436707	56436707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctattttagcttttgaatGttccccatctcctccaaggc	7	12	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:56436707G>A	uc003xsf.2	+	3	1906	c.1874G>A	c.(1873-1875)TGT>TAT	p.C625Y		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	625						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTTTTGAATGTTCCCCATCT	0.448													A	56436707	G	A	56436707	3	1	281	1	0	0	0	0	1	0	0	0	17430	1377	48	4	1884	4	XKR4	8	56436707	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	31662119	56436707	89927315	137	145016											
TOX	9760	broad.mit.edu	37	chr8	59750777	59750787	+	Frame_Shift_Del	DEL	TCTGGGGCTCA	TCTGGGGCTCA	-													cgcataggcagacacaggctTctggggctcattgggatcct							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:59750776_59750786TTCTGGGGCTCA>T	uc003xtw.1	-	4	999_1009	c.778_788TGAGCCCCAGAA>A	c.(778-789)gagccccagaagfs	p.E260fs		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	260						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)				AGACACAGGCTTCTGGGGCTCATTGGGATCC	0.464													-	59750787	TCTGGGGCTCA	-	59750777	7	5	281	1	0	1	0	1	0	0	0	0	16374	1792	62	0	813	0	TOX	8	59750777	Frame_Shift_Del	DEL	TCTGGGGCTCA	TCGA-HU-A4H5-01A-21D-A25D-08	3314070	59750777	86613245	138	145017											
GDF6	392255	broad.mit.edu	37	chr8	97157138	97157138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgtgccgcttgccatggcGactggcgaaggccgtgcgcc	16	15	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:97157138G>A	uc003yhp.2	-	2	1121	c.1021C>T	c.(1021-1023)CGC>TGC	p.R341C		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	341					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			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					TTGCCATGGCGACTGGCGAAG	0.428													A	97157138	G	A	97157138	3	1	281	1	0	0	0	0	1	0	0	0	6317	1058	37	1	350	1	GDF6	8	97157138	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	37406361	97157138	49206884	139	145018											
PKHD1L1	93035	broad.mit.edu	37	chr8	110487423	110487423	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgattccaaatgcaaaTcacattaactggtattttaa	5	8	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:110487423T>C	uc003yne.2	+	51	8786	c.8682T>C	c.(8680-8682)AAT>AAC	p.N2894N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2894	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAATGCAAATCACATTAACT	0.338										HNSCC(38;0.096)			C	110487423	T	C	110487423	2	2	281	1	0	0	0	0	0	0	0	1	11972	1432	50	3		3	PKHD1L1	8	110487423	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	13330285	110487423	35876599	140	145019											
FER1L6	654463	broad.mit.edu	37	chr8	125015451	125015472	+	Frame_Shift_Del	DEL	AAGAAGTCAGCTGAATCAGCTG	AAGAAGTCAGCTGAATCAGCTG	-													gaggatcccatcatgggagtAagaagtcagctgaatcagct							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:125015450_125015471TAAGAAGTCAGCTGAATCAGCTG>T	uc003yqw.3	+	12	1769_1790	c.1563_1584TAAGAAGTCAGCTGAATCAGCTG>T	c.(1561-1584)agtaagaagtcagctgaatcagctfs	p.S521fs	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	521						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)			ATCATGGGAGTAAGAAGTCAGCTGAATCAGCTGAAGAAGACC	0.527													-	125015472	AAGAAGTCAGCTGAATCAGCTG	-	125015451	7	5	281	1	0	1	0	1	0	0	0	0	5815	363	13	0	1610	0	FER1L6	8	125015451	Frame_Shift_Del	DEL	AAGAAGTCAGCTGAATCAGCTG	TCGA-HU-A4H5-01A-21D-A25D-08	14528028	125015451	21348571	141	145020											
RNF139	11236	broad.mit.edu	37	chr8	125499620	125499620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccttcggaaatggctgtAcattcaagatacttgtccaa	8	9	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:125499620A>G	uc003yrc.2	+	2	2073	c.1730A>G	c.(1729-1731)TAC>TGC	p.Y577C		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	577	RING-type; atypical.			Missing: Increases proliferation. Rescues MHC class I to the cell surface. Fails to down-regulate SREBF1 and SREBF2.	negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAATGGCTGTACATTCAAGAT	0.363									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				G	125499620	A	G	125499620	3	3	281	1	0	0	0	0	1	0	0	0	13442	391	14	3	1736	3	RNF139	8	125499620	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	484169	125499620	20864402	142	145021											
ASAP1	50807	broad.mit.edu	37	chr8	131146567	131146567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatcctgctcatcttctgCctgaaagtgatatgttctat	6	9	4	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:131146567C>A	uc003yta.1	-	14	1220	c.1192G>T	c.(1192-1194)GCA>TCA	p.A398S	ASAP1_uc003ysz.1_Missense_Mutation_p.A209S|ASAP1_uc011liw.1_Missense_Mutation_p.A391S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	398	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			ovary(4)	4						TCATCTTCTGCCTGAAAGTGA	0.338													A	131146567	C	A	131146567	3	1	281	1	0	0	0	0	1	0	0	0	1010	739	26	5	2261	5	ASAP1	8	131146567	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	5646947	131146567	15217455	143	145022											
EPPK1	83481	broad.mit.edu	37	chr8	144943893	144943893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacccacctctgcacagaggCtagcagctgtggcacagtgg	12	13	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:144943893C>G	uc003zaa.1	-	1	3542	c.3529G>C	c.(3529-3531)GCC>CCC	p.A1177P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1177						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			TGCACAGAGGCTAGCAGCTGT	0.677													G	144943893	C	G	144943893	3	3	281	1	0	0	0	0	1	0	0	0	5190	797	28	5	3737	5	EPPK1	8	144943893	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	13797326	144943893	1420129	144	145023											
KDM4C	23081	broad.mit.edu	37	chr9	7169838	7169838	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagatagcaatgaagagagAggacatctacactttagatg	10	7	1	5			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:7169838A>T	uc003zkh.2	+	21	3522	c.2942A>T	c.(2941-2943)GAG>GTG	p.E981V	KDM4C_uc003zkg.2_Missense_Mutation_p.E981V|KDM4C_uc011lmk.1_Missense_Mutation_p.E726V|KDM4C_uc011lml.1_Missense_Mutation_p.E668V	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	981	Tudor 2.				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			ovary(1)	1						ATGAAGAGAGAGGACATCTAC	0.388													T	7169838	A	T	7169838	3	4	281	1	0	0	0	0	1	0	0	0	8130	304	11	5	3112	5	KDM4C	9	7169838	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08		7169838	134043593	145	145024											
TLN1	7094	broad.mit.edu	37	chr9	35720037	35720037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagtgggacacttaccAgaggaggcatgtgtcctcgg	16	8	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:35720037A>G	uc003zxt.2	-	13	1817	c.1463T>C	c.(1462-1464)CTG>CCG	p.L488P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	488					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACTTACCAGAGGAGGCAT	0.602													G	35720037	A	G	35720037	3	3	281	1	0	0	0	0	1	0	0	0	15944	202	7	3	6342	3	TLN1	9	35720037	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	28550199	35720037	105493394	146	145025											
RECK	8434	broad.mit.edu	37	chr9	36102209	36102209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatctgaagaattgtataCctttggatacatacctcagt	7	7	2	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:36102209C>T	uc003zyv.2	+	12	1503	c.1417C>T	c.(1417-1419)CCT>TCT	p.P473S	RECK_uc003zyw.2_Missense_Mutation_p.P345S|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	473						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAATTGTATACCTTTGGATAC	0.338													T	36102209	C	T	36102209	3	4	281	1	0	0	0	0	1	0	0	0	13200	507	18	4	1463	4	RECK	9	36102209	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	382172	36102209	105111222	147	145026											
LCN15	389812	broad.mit.edu	37	chr9	139658879	139658879	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggctgcagcagaaccTcagcctgagccgtgggcgcc	14	14	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:139658879T>A	uc004cjd.2	-	1	87	c.62A>T	c.(61-63)GAG>GTG	p.E21V		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	lipocalin 15 precursor	21					lipid metabolic process	extracellular region	binding|transporter activity				0						CAGCAGAACCTCAGCCTGAGC	0.632													A	139658879	T	A	139658879	3	1	281	1	0	0	0	0	1	0	0	0	8683	1551	54	5	516	5	LCN15	9	139658879	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	103556670	139658879	1554552	148	145027											
ABCA2	20	broad.mit.edu	37	chr9	139912242	139912242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcccggcccgcgcacctcCttgagccggtgctccttctc	10	19	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:139912242C>A	uc011mem.1	-	15	2353	c.2205G>T	c.(2203-2205)AAG>AAT	p.K735N	ABCA2_uc011mel.1_Missense_Mutation_p.K736N|ABCA2_uc004ckl.1_Missense_Mutation_p.K666N|ABCA2_uc004ckm.1_Missense_Mutation_p.K766N|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	735					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				0	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)		CGCGCACCTCCTTGAGCCGGT	0.697													A	139912242	C	A	139912242	3	1	281	1	0	0	0	0	1	0	0	0	32	680	24	5	5238	5	ABCA2	9	139912242	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	253363	139912242	1301189	149	145028											
WDR85	92715	broad.mit.edu	37	chr9	140468751	140468751	+	Frame_Shift_Del	DEL	G	G	-													gaggccactttctgcagcctGggcctcgtctcattcaccat							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:140468751delG	uc004cnk.1	-	5	707	c.549delC	c.(547-549)CCCfs	p.P183fs	WDR85_uc004cnl.1_Frame_Shift_Del_p.P7fs|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_Intron	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	183					peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		TCTGCAGCCTGGGCCTCGTCT	0.537													-	140468751	G	-	140468751	7	5	281	1	0	1	0	1	0	0	0	0	17330	1335	47	0	829	0	WDR85	9	140468751	Frame_Shift_Del	DEL	G	TCGA-HU-A4H5-01A-21D-A25D-08	556509	140468751	744680	150	145029											
ALOX5	240	broad.mit.edu	37	chr10	45938620	45938620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagacatcccctactaCttctaccgggacgacgggct	9	13	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:45938620C>T	uc001jce.2	+	10	1506	c.1407C>T	c.(1405-1407)TAC>TAT	p.Y469Y	ALOX5_uc009xmt.2_Silent_p.Y437Y|ALOX5_uc010qfg.1_Silent_p.Y469Y	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	469	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			ovary(1)|pancreas(1)	2		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)	TCCCCTACTACTTCTACCGGG	0.652													T	45938620	C	T	45938620	2	4	281	1	0	0	0	0	0	0	0	1	540	576	20	4		4	ALOX5	10	45938620	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		45938620	89596127	151	145030											
SLC16A9	220963	broad.mit.edu	37	chr10	61432609	61432609	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcctccagccaccatgaAgccactgaagattgtgacag	10	13	0	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:61432609A>C	uc010qig.1	-	3	708	c.259T>G	c.(259-261)TTC>GTC	p.F87V		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	87	Helical; (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						GCCACCATGAAGCCACTGAAG	0.418													C	61432609	A	C	61432609	3	2	281	1	0	0	0	0	1	0	0	0	14415	72	3	5	1286	5	SLC16A9	10	61432609	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	15493989	61432609	74102138	152	145031											
RHOBTB1	9886	broad.mit.edu	37	chr10	62631340	62631340	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttcccttttcacacgcTggtagtgatcttcttccttc	6	14	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:62631340T>G	uc001jli.2	-	12	2429	c.1991A>C	c.(1990-1992)CAG>CCG	p.Q664P	RHOBTB1_uc001jlh.2_Missense_Mutation_p.Q664P|RHOBTB1_uc001jlj.2_Missense_Mutation_p.Q664P|RHOBTB1_uc001jlk.2_Missense_Mutation_p.Q664P|RHOBTB1_uc009xpe.1_Missense_Mutation_p.Q602P|RHOBTB1_uc009xpd.2_3'UTR|RHOBTB1_uc001jll.2_Missense_Mutation_p.Q414P	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	664					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					TTTCACACGCTGGTAGTGATC	0.502													G	62631340	T	G	62631340	3	3	281	1	0	0	0	0	1	0	0	0	13333	1580	55	5	103	5	RHOBTB1	10	62631340	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	1198731	62631340	72903407	153	145032											
CUTC	51076	broad.mit.edu	37	chr10	101502973	101502973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgatgattcggccacgggGaggtgattttttgtattcag	14	5	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:101502973G>A	uc001kqd.3	+	4	405	c.257G>A	c.(256-258)GGA>GAA	p.G86E	CUTC_uc010qpk.1_Missense_Mutation_p.G86E|CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	86					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CGGCCACGGGGAGGTGATTTT	0.418													A	101502973	G	A	101502973	3	1	281	1	0	0	0	0	1	0	0	0	4063	1174	41	4	271	4	CUTC	10	101502973	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	38871633	101502973	34031774	154	145033											
NEURL	9148	broad.mit.edu	37	chr10	105349314	105349314	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtatcccatcactcccctgCtcccctgcctccacgccaac	5	22	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:105349314C>A	uc001kxh.2	+	5	1793	c.1383C>A	c.(1381-1383)TGC>TGA	p.C461*	SH3PXD2A_uc010qqr.1_Intron	NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	461					nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CACTCCCCTGCTCCCCTGCCT	0.662													A	105349314	C	A	105349314	4	1	281	1	0	0	0	0	0	1	0	0	10345	805	28	5	1401	5	NEURL	10	105349314	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	3846341	105349314	30185433	155	145034											
HSPA12A	259217	broad.mit.edu	37	chr10	118434408	118434408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggatctccctccgggCgggcaccgcagtgccactgg	15	15	2	0	rs41284376		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:118434408C>T	uc001lct.2	-	12	2017	c.1912G>A	c.(1912-1914)GCC>ACC	p.A638T	HSPA12A_uc001lcu.2_Missense_Mutation_p.A555T	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	638							ATP binding			ovary(1)	1				all cancers(201;0.0158)		TCCCTCCGGGCGGGCACCGCA	0.577													T	118434408	C	T	118434408	3	4	281	1	0	0	0	0	1	0	0	0	7404	768	27	1	119	1	HSPA12A	10	118434408	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	13085094	118434408	17100339	156	145035											
PDZD8	118987	broad.mit.edu	37	chr10	119043502	119043502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacgaggaggcaggccTaagagggtttcctgtccttc	12	11	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:119043502T>G	uc001lde.1	-	5	2941	c.2742A>C	c.(2740-2742)TTA>TTC	p.L914F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	914					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGGCAGGCCTAAGAGGGTTT	0.418													G	119043502	T	G	119043502	3	3	281	1	0	0	0	0	1	0	0	0	11705	1519	53	5	726	5	PDZD8	10	119043502	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	609094	119043502	16491245	157	145036											
TACC2	10579	broad.mit.edu	37	chr10	123845760	123845760	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctgcccagagaggagcaGaagacagtggagtgaaagct	16	7	0	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:123845760G>A	uc001lfv.2	+	4	4105	c.3745G>A	c.(3745-3747)GAA>AAA	p.E1249K	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E1249K|TACC2_uc010qtv.1_Missense_Mutation_p.E1249K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1249						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGAGGAGCAGAAGACAGTGG	0.597													A	123845760	G	A	123845760	3	1	281	1	0	0	0	0	1	0	0	0	15499	943	33	4	3755	4	TACC2	10	123845760	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	4802258	123845760	11688987	158	145037											
PAMR1	25891	broad.mit.edu	37	chr11	35492330	35492330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcaacatagtcatactgGcacatgtagtcaaactccag	6	12	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:35492330G>A	uc001mwg.2	-	5	574	c.531C>T	c.(529-531)TGC>TGT	p.C177C	PAMR1_uc001mwf.2_Silent_p.C177C|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.C137C	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	177	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						AGTCATACTGGCACATGTAGT	0.562													A	35492330	G	A	35492330	2	1	281	1	0	0	0	0	0	0	0	1	11413	1195	42	2		2	PAMR1	11	35492330	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08		35492330	99514186	159	145038											
CRY2	1408	broad.mit.edu	37	chr11	45891339	45891339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctgacccgcggggacCtctgggtcagctgggagagc	16	13	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:45891339C>T	uc010rgn.1	+	7	1250	c.1228C>T	c.(1228-1230)CTC>TTC	p.L410F	CRY2_uc009ykw.2_Missense_Mutation_p.L328F|CRY2_uc010rgo.1_Missense_Mutation_p.L132F	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	389	FAD-binding.				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			central_nervous_system(1)	1						CCGCGGGGACCTCTGGGTCAG	0.647													T	45891339	C	T	45891339	3	4	281	1	0	0	0	0	1	0	0	0	3904	681	24	4	1290	4	CRY2	11	45891339	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	10399009	45891339	89115177	160	145039											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45926588	45926588	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggatatcatccaaagaacAacaagtaagtgggggtggga	14	6	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:45926588A>C	uc001nbr.2	+	10	2130	c.1960A>C	c.(1960-1962)AAC>CAC	p.N654H		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	654	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		TCCAAAGAACAACAAGTAAGT	0.542													C	45926588	A	C	45926588	3	2	281	1	0	0	0	0	1	0	0	0	9284	130	5	5	1998	5	MAPK8IP1	11	45926588	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	35249	45926588	89079928	161	145040											
KIAA0652	9776	broad.mit.edu	37	chr11	46671862	46671862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgaatatgtcatattAtacaggtaaacagcatagat	9	5	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:46671862A>C	uc009yld.2	+	7	1137	c.453A>C	c.(451-453)TTA>TTC	p.L151F	KIAA0652_uc001nda.2_Missense_Mutation_p.L151F|KIAA0652_uc001ndb.2_Missense_Mutation_p.L151F|KIAA0652_uc001ncz.2_Missense_Mutation_p.L151F|KIAA0652_uc001ndc.2_Missense_Mutation_p.L151F|KIAA0652_uc010rgv.1_Missense_Mutation_p.L72F	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	151					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		ATGTCATATTATACAGGTAAA	0.423													C	46671862	A	C	46671862	3	2	281	1	0	0	0	0	1	0	0	0	8188	446	16	5	471	5	KIAA0652	11	46671862	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	745274	46671862	88334654	162	145041											
OR5M8	219484	broad.mit.edu	37	chr11	56257957	56257957	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctttgattaatgcttctTttacatttttatttctaagg	5	6	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:56257957T>A	uc001nix.1	-	1	890	c.890A>T	c.(889-891)AAA>ATA	p.K297I		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					TAATGCTTCTTTTACATTTTT	0.308													A	56257957	T	A	56257957	3	1	281	1	0	0	0	0	1	0	0	0	11176	1841	64	5	49	5	OR5M8	11	56257957	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	9586095	56257957	78748559	163	145042											
ZDHHC5	25921	broad.mit.edu	37	chr11	57457633	57457633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcctcctttatgtccTctaccacatagaggaactct	6	13	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:57457633T>A	uc001nkx.1	+	5	1771	c.515T>A	c.(514-516)CTC>CAC	p.L172H	ZDHHC5_uc001nky.1_Missense_Mutation_p.L119H|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	172						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CTTTATGTCCTCTACCACATA	0.498													A	57457633	T	A	57457633	3	1	281	1	0	0	0	0	1	0	0	0	17615	1551	54	5	529	5	ZDHHC5	11	57457633	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	1199676	57457633	77548883	164	145043											
OR5A1	219982	broad.mit.edu	37	chr11	59210971	59210971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttttctttgtcggcatGggtctgtctgagtgcctcct	10	9	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:59210971G>A	uc001nnx.1	+	1	330	c.330G>A	c.(328-330)ATG>ATA	p.M110I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						TTGTCGGCATGGGTCTGTCTG	0.527													A	59210971	G	A	59210971	3	1	281	1	0	0	0	0	1	0	0	0	11139	1348	47	4	332	4	OR5A1	11	59210971	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1753338	59210971	75795545	165	145044											
SLC22A9	114571	broad.mit.edu	37	chr11	63141464	63141464	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcaggcctggcttttGccattcgagactggcatatc	11	13	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:63141464G>C	uc001nww.2	+	4	1028	c.760G>C	c.(760-762)GCC>CCC	p.A254P	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	254	Helical; (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						CCTGGCTTTTGCCATTCGAGA	0.468													C	63141464	G	C	63141464	3	2	281	1	0	0	0	0	1	0	0	0	14461	1319	46	5	774	5	SLC22A9	11	63141464	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3930493	63141464	71865052	166	145045											
SUV420H1	51111	broad.mit.edu	37	chr11	67947642	67947642	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtcagattttgaaaaatGccttgagctcctcgaaggaa	9	8	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:67947642G>T	uc001onm.1	-	4	590	c.334C>A	c.(334-336)CAT>AAT	p.H112N	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.H112N|SUV420H1_uc001onp.2_Missense_Mutation_p.H112N|SUV420H1_uc010rqa.1_Intron|SUV420H1_uc001onq.2_Missense_Mutation_p.H112N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						tttgaaaaatgccttgagctc	0.134													T	67947642	G	T	67947642	3	4	281	1	0	0	0	0	1	0	0	0	15411	1319	46	5	2363	5	SUV420H1	11	67947642	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	4806178	67947642	67058874	167	145046											
CPT1A	1374	broad.mit.edu	37	chr11	68582853	68582853	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtccagagagatagatTtgtctaagagcttcatggct	11	6	2	5			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:68582853T>A	uc001oog.3	-	2	260	c.90A>T	c.(88-90)CAA>CAT	p.Q30H	CPT1A_uc001oof.3_Missense_Mutation_p.Q30H|CPT1A_uc009ysj.2_Missense_Mutation_p.Q30H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	30	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGAGATAGATTTGTCTAAGAG	0.438													A	68582853	T	A	68582853	3	1	281	1	0	0	0	0	1	0	0	0	3831	1838	64	5	2343	5	CPT1A	11	68582853	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	635211	68582853	66423663	168	145047											
WNT11	7481	broad.mit.edu	37	chr11	75898212	75898212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaccacgcggtctgtgTaggggttgtagccacgcccg	15	13	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:75898212T>C	uc001oxe.2	-	5	1085	c.962A>G	c.(961-963)TAC>TGC	p.Y321C		NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	321					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						GCGGTCTGTGTAGGGGTTGTA	0.602													C	75898212	T	C	75898212	3	2	281	1	0	0	0	0	1	0	0	0	17381	1638	57	3	106	3	WNT11	11	75898212	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	7315359	75898212	59108304	169	145048											
CWF19L2	143884	broad.mit.edu	37	chr11	107197652	107197652	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctcaatagtttttacttTtggtgaagtcatatggtttc	7	7	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:107197652T>A	uc010rvp.1	-	18	2699	c.2669A>T	c.(2668-2670)AAA>ATA	p.K890I	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	890							catalytic activity				0		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)		GTTTTTACTTTTGGTGAAGTC	0.403													A	107197652	T	A	107197652	3	1	281	1	0	0	0	0	1	0	0	0	4072	1841	64	5	19	5	CWF19L2	11	107197652	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	31299440	107197652	27808864	170	145049											
BTG4	54766	broad.mit.edu	37	chr11	111366030	111366030	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agattgaaagggctgtttcaAgttttcaacctggaaaaaaa	9	5	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:111366030A>C	uc001plj.2	-	5	705	c.520T>G	c.(520-522)TTG>GTG	p.L174V		NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	174					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation						0		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		GGCTGTTTCAAGTTTTCAACC	0.413													C	111366030	A	C	111366030	3	2	281	1	0	0	0	0	1	0	0	0	1556	69	3	5	159	5	BTG4	11	111366030	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	4168378	111366030	23640486	171	145050											
FDXACB1	91893	broad.mit.edu	37	chr11	111749799	111749799	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgatccagggtttcgctcaGagcggcggcgaaggagaaat	15	9	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:111749799G>A	uc001pmc.3	-	1	355	c.58C>T	c.(58-60)CTG>TTG	p.L20L	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	20					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						GTTTCGCTCAGAGCGGCGGCG	0.657											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	111749799	G	A	111749799	2	1	281	1	0	0	0	0	0	0	0	1	5806	933	33	4		4	FDXACB1	11	111749799	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	383769	111749799	23256717	172	145051											
APOA5	116519	broad.mit.edu	37	chr11	116661139	116661139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgggggtccgggccggccCcttcctcagtcccagtgcct	13	17	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:116661139C>A	uc001ppr.2	-	3	814	c.806G>T	c.(805-807)GGG>GTG	p.G269V	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.G269V|APOA5_uc009yzf.2_Missense_Mutation_p.G269V|APOA5_uc009yzg.2_Missense_Mutation_p.G295V	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	269					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CGGGCCGGCCCCTTCCTCAGT	0.657													A	116661139	C	A	116661139	3	1	281	1	0	0	0	0	1	0	0	0	784	623	22	5	298	5	APOA5	11	116661139	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	4911340	116661139	18345377	173	145052											
DSCAML1	57453	broad.mit.edu	37	chr11	117299141	117299141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaagcgagtccctggagCcccccattttggtgtgtggg	15	11	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:117299141C>T	uc001prh.1	-	33	6247	c.6245G>A	c.(6244-6246)GGC>GAC	p.G2082D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2022	Cytoplasmic (Potential).				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			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	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)		GTCCCTGGAGCCCCCCATTTT	0.701													T	117299141	C	T	117299141	3	4	281	1	0	0	0	0	1	0	0	0	4769	739	26	2	100	2	DSCAML1	11	117299141	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	638002	117299141	17707375	174	145053											
TECTA	7007	broad.mit.edu	37	chr11	120998579	120998579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccgtgcacagagggctgCgagtgcaaccagggcttcgt	15	12	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:120998579C>T	uc010rzo.1	+	8	1893	c.1893C>T	c.(1891-1893)TGC>TGT	p.C631C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	631	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CAGAGGGCTGCGAGTGCAACC	0.647													T	120998579	C	T	120998579	2	4	281	1	0	0	0	0	0	0	0	1	15744	776	27	1		1	TECTA	11	120998579	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	3699438	120998579	14007937	175	145054											
BSX	390259	broad.mit.edu	37	chr11	122848402	122848402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccccctcgtctccaatGtccacctcgtcctctggctc	6	20	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:122848402G>A	uc010rzs.1	-	3	657	c.657C>T	c.(655-657)GAC>GAT	p.D219D		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	219											0		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													A	122848402	G	A	122848402	2	1	281	1	0	0	0	0	0	0	0	1	1535	1368	48	4		4	BSX	11	122848402	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1849823	122848402	12158114	176	145055											
OR6M1	390261	broad.mit.edu	37	chr11	123676812	123676812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttctcttctcctaggagGcaggccaacaactttggggt	11	10	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:123676812G>A	uc010rzz.1	-	1	246	c.246C>T	c.(244-246)TGC>TGT	p.C82C		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		CTCCTAGGAGGCAGGCCAACA	0.433													A	123676812	G	A	123676812	2	1	281	1	0	0	0	0	0	0	0	1	11205	1195	42	2		2	OR6M1	11	123676812	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	828410	123676812	11329704	177	145056											
ACRV1	56	broad.mit.edu	37	chr11	125547724	125547724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaattggtgcacctgaaGcctgttcccctgaagcgtgc	11	11	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:125547724G>A	uc001qcs.2	-	2	788	c.521C>T	c.(520-522)GCT>GTT	p.A174V	ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Missense_Mutation_p.A104V|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.A119V|ACRV1_uc001qco.2_Missense_Mutation_p.A79V|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.A104V|ACRV1_uc001qcr.2_Intron	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	174	3-9.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TGCACCTGAAGCCTGTTCCCC	0.532													A	125547724	G	A	125547724	3	1	281	1	0	0	0	0	1	0	0	0	172	971	34	2	288	2	ACRV1	11	125547724	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1870912	125547724	9458792	178	145057											
IQSEC3	440073	broad.mit.edu	37	chr12	280291	280291	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagccaaaagggaagcCgcgctcagggagaggccggc	15	11	2	1	rs151163146	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:280291C>G	uc001qhw.1	+	10	2175	c.2169C>G	c.(2167-2169)GCC>GCG	p.A723A	IQSEC3_uc001qhu.1_Silent_p.A723A	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1026					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	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)		AAAGGGAAGCCGCGCTCAGGG	0.622													G	280291	C	G	280291	2	3	281	1	0	0	0	0	0	0	0	1	7819	639	23	5		5	IQSEC3	12	280291	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		280291	133571604	179	145058											
CACNA1C	775	broad.mit.edu	37	chr12	2795345	2795345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaggtcgaagggcctcCttccacctggaatgtctgaa	11	11	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:2795345C>T	uc009zdu.1	+	48	6256	c.5943C>T	c.(5941-5943)TCC>TCT	p.S1981S	CACNA1C_uc009zdv.1_Silent_p.S1895S|CACNA1C_uc001qkb.2_Silent_p.S1898S|CACNA1C_uc001qkc.2_Silent_p.S1917S|CACNA1C_uc001qke.2_Silent_p.S1887S|CACNA1C_uc001qkf.2_Silent_p.S1906S|CACNA1C_uc001qjz.2_Silent_p.S1898S|CACNA1C_uc001qkd.2_Silent_p.S1917S|CACNA1C_uc001qkg.2_Silent_p.S1904S|CACNA1C_uc009zdw.1_Silent_p.S1939S|CACNA1C_uc001qkh.2_Silent_p.S1906S|CACNA1C_uc001qkl.2_Silent_p.S1946S|CACNA1C_uc001qkn.2_Silent_p.S1898S|CACNA1C_uc001qko.2_Silent_p.S1918S|CACNA1C_uc001qkp.2_Silent_p.S1898S|CACNA1C_uc001qkr.2_Silent_p.S1915S|CACNA1C_uc001qku.2_Silent_p.S1933S|CACNA1C_uc001qkq.2_Silent_p.S1926S|CACNA1C_uc001qks.2_Silent_p.S1898S|CACNA1C_uc001qkt.2_Silent_p.S1917S|CACNA1C_uc001qki.1_Silent_p.S1705S|CACNA1C_uc001qkj.1_Silent_p.S1669S|CACNA1C_uc001qkk.1_Silent_p.S1634S|CACNA1C_uc001qkm.1_Silent_p.S1694S|CACNA1C_uc010sea.1_Silent_p.S589S|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.S216S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1981	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			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)	GAAGGGCCTCCTTCCACCTGG	0.577													T	2795345	C	T	2795345	2	4	281	1	0	0	0	0	0	0	0	1	2540	668	24	4		4	CACNA1C	12	2795345	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	2515054	2795345	131056550	180	145059											
ZNF705A	440077	broad.mit.edu	37	chr12	8329733	8329733	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaacagtgtggaaaatctCttcgtaatcttttctcccct	6	11	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:8329733C>A	uc001qud.1	+	5	529	c.457C>A	c.(457-459)CTT>ATT	p.L153I		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Kidney(36;0.0877)		TGGAAAATCTCTTCGTAATCT	0.368													A	8329733	C	A	8329733	3	1	281	1	0	0	0	0	1	0	0	0	18105	913	32	5	475	5	ZNF705A	12	8329733	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	5534388	8329733	125522162	181	145060											
IPO8	10526	broad.mit.edu	37	chr12	30834694	30834694	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgtcgaccactcctggCcagtgaccaggaaaatcatg	9	12	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:30834694C>T	uc001rjd.2	-	4	551	c.381G>A	c.(379-381)TGG>TGA	p.W127*		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	127					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	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)					CCACTCCTGGCCAGTGACCAG	0.403													T	30834694	C	T	30834694	4	4	281	1	0	0	0	0	0	1	0	0	7798	740	26	2	2820	2	IPO8	12	30834694	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	22504961	30834694	103017201	182	145061											
DDX23	9416	broad.mit.edu	37	chr12	49226289	49226289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccaatgtacaccacagcaGgtcgccgaagatagctcctg	10	13	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:49226289G>C	uc001rsm.2	-	14	1962	c.1871C>G	c.(1870-1872)CCT>CGT	p.P624R		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	624	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						CACCACAGCAGGTCGCCGAAG	0.587													C	49226289	G	C	49226289	3	2	281	1	0	0	0	0	1	0	0	0	4350	1000	35	5	607	5	DDX23	12	49226289	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	18391595	49226289	84625606	183	145062											
KRT73	319101	broad.mit.edu	37	chr12	53007514	53007514	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggccttgctcttccgGgcgatctcctcatactgggc	11	16	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:53007514G>C	uc001sas.2	-	5	977	c.942C>G	c.(940-942)GCC>GCG	p.A314A		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	314	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCTTCCGGGCGATCTCCT	0.587													C	53007514	G	C	53007514	2	2	281	1	0	0	0	0	0	0	0	1	8486	1219	43	5		5	KRT73	12	53007514	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	3781225	53007514	80844381	184	145063											
TPH2	121278	broad.mit.edu	37	chr12	72425323	72425323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgcaaagtcaattaccCgtcccttctcagtatacttc	4	13	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:72425323C>T	uc009zrw.1	+	11	1462	c.1321C>T	c.(1321-1323)CGT>TGT	p.R441C	TPH2_uc001swy.2_Missense_Mutation_p.R351C	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	441			R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GTCAATTACCCGTCCCTTCTC	0.418													T	72425323	C	T	72425323	3	4	281	1	0	0	0	0	1	0	0	0	16399	652	23	1	1363	1	TPH2	12	72425323	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	19417809	72425323	61426572	185	145064											
KCNC2	3747	broad.mit.edu	37	chr12	75444690	75444690	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcaccctcagacctacAaaatggcgggtgagcttgaa	10	12	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:75444690A>T	uc001sxg.1	-	3	1639	c.1095T>A	c.(1093-1095)TTT>TTA	p.F365L	KCNC2_uc009zry.2_Missense_Mutation_p.F365L|KCNC2_uc001sxe.2_Missense_Mutation_p.F365L|KCNC2_uc001sxf.2_Missense_Mutation_p.F365L|KCNC2_uc010stw.1_Missense_Mutation_p.F365L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	365	Helical; Voltage-sensor; Name=Segment S4; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						TCAGACCTACAAAATGGCGGG	0.448													T	75444690	A	T	75444690	3	4	281	1	0	0	0	0	1	0	0	0	8015	127	5	5	899	5	KCNC2	12	75444690	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	3019367	75444690	58407205	186	145065											
ACSS3	79611	broad.mit.edu	37	chr12	81647273	81647273	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccatctgaactttctctctaGatataaatgcaacagaggag	7	9	3	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:81647273G>C	uc001szl.1	+	15	1911	c.1820_splice	c.e15-1	p.D607_splice	ACSS3_uc001szm.1_Splice_Site_p.D606_splice|ACSS3_uc001szn.1_Splice_Site_p.D289_splice	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TTTCTCTCTAGATATAAATGC	0.388													C	81647273	G	C	81647273	5	2	281	1	0	0	0	0	0	0	1	0	190	956	33	5	1877	5	ACSS3	12	81647273	Splice_Site	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	6202583	81647273	52204622	187	145066											
ATXN2	6311	broad.mit.edu	37	chr12	111990188	111990188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacgtttcggccccgaaCtggattctgtacttttctca	7	13	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:111990188C>T	uc001tsj.2	-	5	1109	c.947G>A	c.(946-948)AGT>AAT	p.S316N	ATXN2_uc001tsh.2_Missense_Mutation_p.S51N|ATXN2_uc001tsi.2_Missense_Mutation_p.S27N|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S51N	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	316					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			ovary(1)|breast(1)	2						CGGCCCCGAACTGGATTCTGT	0.348													T	111990188	C	T	111990188	3	4	281	1	0	0	0	0	1	0	0	0	1211	565	20	4	3078	4	ATXN2	12	111990188	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	30342915	111990188	21861707	188	145067											
DIAPH3	81624	broad.mit.edu	37	chr13	60545039	60545039	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtttaaattctttctttgGtttcaacccaaatggcagga	8	7	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:60545039G>C	uc001vht.2	-	16	2125	c.1906C>G	c.(1906-1908)CCA>GCA	p.P636A	DIAPH3_uc001vhu.2_Missense_Mutation_p.P373A|DIAPH3_uc001vhv.2_Missense_Mutation_p.P214A	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	636	FH2.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTTCTTTGGTTTCAACCCA	0.403													C	60545039	G	C	60545039	3	2	281	1	0	0	0	0	1	0	0	0	4520	1261	44	5	1747	5	DIAPH3	13	60545039	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08		60545039	54624839	189	145068											
SLITRK6	84189	broad.mit.edu	37	chr13	86370114	86370114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaatcggaagatgtttGgaggaagactctcaatagca	11	6	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:86370114G>A	uc001vll.1	-	2	989	c.530C>T	c.(529-531)CCA>CTA	p.P177L	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	177	LRR 4.|Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GAAGATGTTTGGAGGAAGACT	0.363													A	86370114	G	A	86370114	3	1	281	1	0	0	0	0	1	0	0	0	14747	1348	47	4	1999	4	SLITRK6	13	86370114	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	25825075	86370114	28799764	190	145069											
NALCN	259232	broad.mit.edu	37	chr13	101720273	101720273	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaacccactcccatacctcTcttttatcatccaccatgtt	1	17	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:101720273T>A	uc001vox.1	-	39	4632	c.4443A>T	c.(4441-4443)AGA>AGT	p.R1481S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1481	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCATACCTCTCTTTTATCAT	0.388													A	101720273	T	A	101720273	3	1	281	1	0	0	0	0	1	0	0	0	10148	1548	54	5	797	5	NALCN	13	101720273	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	15350159	101720273	13449605	191	145070											
TNFSF13B	10673	broad.mit.edu	37	chr13	108922355	108922355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacggaaggaaagccccTctgtccgatcctccaaagac	8	16	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:108922355T>G	uc001vqr.2	+	1	379	c.112T>G	c.(112-114)TCT>GCT	p.S38A	TNFSF13B_uc010agj.2_Missense_Mutation_p.S38A	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	38	Cytoplasmic (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GGAAAGCCCCTCTGTCCGATC	0.537													G	108922355	T	G	108922355	3	3	281	1	0	0	0	0	1	0	0	0	16303	1551	54	5	114	5	TNFSF13B	13	108922355	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	7202082	108922355	6247523	192	145071											
MCF2L	23263	broad.mit.edu	37	chr13	113733042	113733042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaggaaagcctggcCatcctgcgcaggtgggtgcg	19	9	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:113733042C>T	uc001vsu.2	+	15	1990	c.1968C>T	c.(1966-1968)GCC>GCT	p.A656A	MCF2L_uc001vsq.2_Silent_p.A656A|MCF2L_uc010tjr.1_Silent_p.A599A|MCF2L_uc001vsr.2_Silent_p.A603A|MCF2L_uc001vss.3_Silent_p.A597A|MCF2L_uc010tjs.1_Silent_p.A597A|MCF2L_uc001vst.1_Silent_p.A561A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	629					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			ovary(1)|kidney(1)	2	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)				AAAGCCTGGCCATCCTGCGCA	0.657													T	113733042	C	T	113733042	2	4	281	1	0	0	0	0	0	0	0	1	9379	581	21	4		4	MCF2L	13	113733042	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	4810687	113733042	1436836	193	145072											
PCID2	55795	broad.mit.edu	37	chr13	113834471	113834471	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggatggcatactctaCctcacagctctggttacttc	9	11	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:113834471C>A	uc010tju.1	-	11	941	c.860_splice	c.e11+1	p.S287_splice	PCID2_uc001vtb.2_Splice_Site_p.S120_splice|PCID2_uc010tjv.1_Splice_Site_p.S287_splice|PCID2_uc010tjw.1_Splice_Site_p.S287_splice|PCID2_uc001vte.2_Splice_Site_p.S180_splice|PCID2_uc001vtd.2_Splice_Site_p.S180_splice|PCID2_uc001vtf.2_Splice_Site_p.S180_splice	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCATACTCTACCTCACAGCTC	0.483													A	113834471	C	A	113834471	5	1	281	1	0	0	0	0	0	0	1	0	11579	521	18	5	354	5	PCID2	13	113834471	Splice_Site	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	101429	113834471	1335407	194	145073											
GZMB	3002	broad.mit.edu	37	chr14	25101228	25101228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggccgtctgcccccagcCggccacactgcatgtctgcc	13	18	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:25101228C>T	uc001wps.2	-	4	502	c.436G>A	c.(436-438)GGC>AGC	p.G146S	GZMB_uc010ama.2_Missense_Mutation_p.G134S|GZMB_uc010amb.2_RNA	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	146	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				0				GBM - Glioblastoma multiforme(265;0.028)		TGCCCCCAGCCGGCCACACTG	0.592													T	25101228	C	T	25101228	3	4	281	1	0	0	0	0	1	0	0	0	6916	652	23	1	315	1	GZMB	14	25101228	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		25101228	82248312	195	145074											
FOXG1	2290	broad.mit.edu	37	chr14	29237432	29237432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtcgcccttcctgtcccTgcaccacccccgcgccagca	7	22	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:29237432T>C	uc001wqe.2	+	1	1146	c.947T>C	c.(946-948)CTG>CCG	p.L316P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	316				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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCCTGTCCCTGCACCACCCC	0.662													C	29237432	T	C	29237432	3	2	281	1	0	0	0	0	1	0	0	0	6007	1580	55	3	949	3	FOXG1	14	29237432	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	4136204	29237432	78112108	196	145075											
HECTD1	25831	broad.mit.edu	37	chr14	31626445	31626459	+	In_Frame_Del	DEL	CTTCTTTTAACAGTG	CTTCTTTTAACAGTG	-													accaacatcagaatcacaaaCttcttttaacagtgcttcag							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:31626444_31626458ACTTCTTTTAACAGTG>A	uc001wrc.1	-	10	2163_2177	c.1674_1688CACTGTTAAAAGAAGT>T	c.(1672-1689)gcactgttaaaagaagtt>gcTt	p.LLKEV559del	HECTD1_uc001wrd.1_In_Frame_Del_p.LLKEV74del	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	559					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)		AGAATCACAAACTTCTTTTAACAGTGCTTCAGAGC	0.33													-	31626459	CTTCTTTTAACAGTG	-	31626445	7	5	281	1	0	1	0	1	0	0	0	0	7039	565	20	0	6277	0	HECTD1	14	31626445	In_Frame_Del	DEL	CTTCTTTTAACAGTG	TCGA-HU-A4H5-01A-21D-A25D-08	2389013	31626445	75723095	197	145076											
NPAS3	64067	broad.mit.edu	37	chr14	34269574	34269574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatgaccaagccccccagCtctgagcacttcccgtcccc	7	20	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:34269574C>A	uc001wru.2	+	12	2125	c.2061C>A	c.(2059-2061)AGC>AGA	p.S687R	NPAS3_uc001wrs.2_Missense_Mutation_p.S674R|NPAS3_uc001wrt.2_Missense_Mutation_p.S655R|NPAS3_uc001wrv.2_Missense_Mutation_p.S657R	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	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)		AGCCCCCCAGCTCTGAGCACT	0.617													A	34269574	C	A	34269574	3	1	281	1	0	0	0	0	1	0	0	0	10564	796	28	5	2162	5	NPAS3	14	34269574	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	2643129	34269574	73079966	198	145077											
SIP1	8487	broad.mit.edu	37	chr14	39583510	39583510	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacctagaatgggcgcAtgcgccgagcggaactggct	15	11	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:39583510A>T	uc001wuq.2	+	1	23	c.1A>T	c.(1-3)ATG>TTG	p.M1L	SIP1_uc001wur.2_Missense_Mutation_p.M1L|SIP1_uc001wus.2_Missense_Mutation_p.M1L|SIP1_uc010amx.2_RNA	NM_003616	NP_003607	O14893	GEMI2_HUMAN	SMN-interacting protein 1 isoform alpha	1					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)		GAATGGGCGCATGCGCCGAGC	0.567													T	39583510	A	T	39583510	3	4	281	1	0	0	0	0	1	0	0	0	14327	217	8	5	3	5	SIP1	14	39583510	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	5313936	39583510	67766030	199	145078											
RTN1	6252	broad.mit.edu	37	chr14	60213055	60213055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacgtggccattttccTtctgaagaattccagtaaaa	9	8	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:60213055T>C	uc001xen.1	-	2	595	c.386A>G	c.(385-387)AAG>AGG	p.K129R		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	129					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCCATTTTCCTTCTGAAGAAT	0.478													C	60213055	T	C	60213055	3	2	281	1	0	0	0	0	1	0	0	0	13725	1609	56	3	2041	3	RTN1	14	60213055	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	20629545	60213055	47136485	200	145079											
ACYP1	97	broad.mit.edu	37	chr14	75520211	75520211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttcattgttgaagtttGctttgtcgatgtgtgattta	9	4	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:75520211G>A	uc001xrg.2	-	3	324	c.236C>T	c.(235-237)GCA>GTA	p.A79V	MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.2_3'UTR	NM_001107	NP_001098	P07311	ACYP1_HUMAN	acylphosphatase 1 isoform a	79	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00646)		GTTGAAGTTTGCTTTGTCGAT	0.393													A	75520211	G	A	75520211	3	1	281	1	0	0	0	0	1	0	0	0	228	1319	46	2	67	2	ACYP1	14	75520211	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	15307156	75520211	31829329	201	145080											
CCDC88C	440193	broad.mit.edu	37	chr14	91791123	91791123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcaccaggcgctacctacCgtctgacaagtctgcgttct	10	15	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:91791123C>A	uc010aty.2	-	12	1441	c.1342G>T	c.(1342-1344)GCC>TCC	p.A448S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	448					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			ovary(3)	3		all_cancers(154;0.0468)				CGCTACCTACCGTCTGACAAG	0.607													A	91791123	C	A	91791123	3	1	281	1	0	0	0	0	1	0	0	0	2865	666	23	5	4820	5	CCDC88C	14	91791123	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	16270912	91791123	15558417	202	145081											
ATG2B	55102	broad.mit.edu	37	chr14	96798640	96798640	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtcttatttttacttAcatgtcttctgtaaaggtgt	6	6	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:96798640A>T	uc001yfi.2	-	10	1833	c.1468_splice	c.e10+1	p.S490_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B											ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTTTTACTTACATGTCTTCT	0.378													T	96798640	A	T	96798640	5	4	281	1	0	0	0	0	0	0	1	0	1094	405	14	5	4898	5	ATG2B	14	96798640	Splice_Site	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	5007517	96798640	10550900	203	145082											
TRMT61A	115708	broad.mit.edu	37	chr14	103996627	103996627	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttggagcttcggcccggCtctgtggtctgtgagtctgg	16	9	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:103996627C>A	uc001yng.2	+	2	431	c.312C>A	c.(310-312)GGC>GGA	p.G104G	TRMT61A_uc010aws.2_Intron	NM_152307	NP_689520	Q96FX7	TRM61_HUMAN	tRNA(m1A58)-methyltransferase subunit TRM61	104						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity				0						TTCGGCCCGGCTCTGTGGTCT	0.592													A	103996627	C	A	103996627	2	1	281	1	0	0	0	0	0	0	0	1	16566	784	28	5		5	TRMT61A	14	103996627	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	7197987	103996627	3352913	204	145083											
C14orf80	283643	broad.mit.edu	37	chr14	105960171	105960171	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtctgcactacctgttttaGatccacctgtacacacgcgg	9	13	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:105960171G>C	uc001yrm.2	+	5	713	c.586_splice	c.e5-1	p.I196_splice	C14orf80_uc001yrj.2_Intron|C14orf80_uc001yrk.2_Intron|C14orf80_uc001yrn.2_Splice_Site_p.I196_splice|C14orf80_uc001yro.2_Intron|C14orf80_uc010tys.1_Splice_Site_p.I18_splice	NM_001134875	NP_001128347	Q86SX3	CN080_HUMAN	hypothetical protein LOC283643 isoform 1												0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		ACCTGTTTTAGATCCACCTGT	0.607													C	105960171	G	C	105960171	5	2	281	1	0	0	0	0	0	0	1	0	1781	956	33	5	631	5	C14orf80	14	105960171	Splice_Site	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1963544	105960171	1389369	205	145084											
OR4N4	283694	broad.mit.edu	37	chr15	22382673	22382673	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatttctgggcaacttggcCttcctggatgcatcctactc	8	12	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:22382673C>A	uc001yuc.1	+	7	1182	c.201C>A	c.(199-201)GCC>GCA	p.A67A	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.A67A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		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)		GCAACTTGGCCTTCCTGGATG	0.483													A	22382673	C	A	22382673	2	1	281	1	0	0	0	0	0	0	0	1	11078	668	24	5		5	OR4N4	15	22382673	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		22382673	80148719	206	145085											
EXD1	161829	broad.mit.edu	37	chr15	41482139	41482139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagctgcacctacctcaGtgcctccaagccggtctgca	10	15	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:41482139G>A	uc001znk.2	-	9	1069	c.878C>T	c.(877-879)ACT>ATT	p.T293I	EXD1_uc001znj.2_Missense_Mutation_p.T91I|EXD1_uc010ucv.1_Missense_Mutation_p.T351I	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	293					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						ACCTACCTCAGTGCCTCCAAG	0.517													A	41482139	G	A	41482139	3	1	281	1	0	0	0	0	1	0	0	0	5297	1029	36	4	674	4	EXD1	15	41482139	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	19099466	41482139	61049253	207	145086											
SPTBN5	51332	broad.mit.edu	37	chr15	42171635	42171635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcctgcagaaaactgcacActtccacactgtgtgccagc	7	15	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:42171635A>G	uc001zos.2	-	16	3233	c.2900T>C	c.(2899-2901)GTG>GCG	p.V967A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1002					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		AAAACTGCACACTTCCACACT	0.632													G	42171635	A	G	42171635	3	3	281	1	0	0	0	0	1	0	0	0	15121	159	6	3	8231	3	SPTBN5	15	42171635	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	689496	42171635	60359757	208	145087											
CCNDBP1	23582	broad.mit.edu	37	chr15	43483628	43483628	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacccttactctggcctcttGaatgatactgaggagaacaa	9	10	2	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:43483628G>T	uc001zqv.2	+	8	846	c.615G>T	c.(613-615)TTG>TTT	p.L205F	CCNDBP1_uc001zqu.2_Missense_Mutation_p.L77F|CCNDBP1_uc010bdc.2_Missense_Mutation_p.L205F|CCNDBP1_uc010bdb.2_Missense_Mutation_p.L77F|CCNDBP1_uc010udl.1_Missense_Mutation_p.L44F|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Missense_Mutation_p.L77F|CCNDBP1_uc010bdd.2_Missense_Mutation_p.L77F|CCNDBP1_uc001zqy.2_Missense_Mutation_p.L77F	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	205	Required for interaction with CCND1.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			ovary(1)|kidney(1)	2		all_cancers(109;3.31e-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;8.42e-07)		CTGGCCTCTTGAATGATACTG	0.413													T	43483628	G	T	43483628	3	4	281	1	0	0	0	0	1	0	0	0	2919	1281	45	5	645	5	CCNDBP1	15	43483628	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1311993	43483628	59047764	209	145088											
TGM7	116179	broad.mit.edu	37	chr15	43572086	43572086	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatccaggaagggcaaagaaGctctttgggggcccagcatt	14	9	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:43572086G>C	uc001zrf.1	-	10	1420	c.1415C>G	c.(1414-1416)GCT>GGT	p.A472G		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	472					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGGCAAAGAAGCTCTTTGGGG	0.592													C	43572086	G	C	43572086	3	2	281	1	0	0	0	0	1	0	0	0	15832	971	34	5	733	5	TGM7	15	43572086	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	88458	43572086	58959306	210	145089											
STRC	161497	broad.mit.edu	37	chr15	43892850	43892850	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcagagcactggagAtgcagggtgccgaggaagag	16	8	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:43892850A>T	uc001zsf.2	-	26	4953	c.4875T>A	c.(4873-4875)CAT>CAA	p.H1625Q	STRC_uc010bdl.2_Missense_Mutation_p.H852Q|STRC_uc001zse.2_Missense_Mutation_p.H143Q	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	1625					sensory perception of sound	cell surface					0		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)		AGCACTGGAGATGCAGGGTGC	0.537													T	43892850	A	T	43892850	3	4	281	1	0	0	0	0	1	0	0	0	15327	330	12	5	468	5	STRC	15	43892850	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	320764	43892850	58638542	211	145090											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306438	58306438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattatagacagggaacacTctcccactctctgagttctg	9	11	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:58306438T>C	uc002aex.2	-	2	217	c.159A>G	c.(157-159)AGA>AGG	p.R53R	ALDH1A2_uc002aey.2_Silent_p.R53R|ALDH1A2_uc010ugv.1_Silent_p.R32R|ALDH1A2_uc010ugw.1_Silent_p.R24R|ALDH1A2_uc002aew.2_5'Flank	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	53					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAGGGAACACTCTCCCACTCT	0.423													C	58306438	T	C	58306438	2	2	281	1	0	0	0	0	0	0	0	1	491	1548	54	3		3	ALDH1A2	15	58306438	Silent	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	14413588	58306438	44224954	212	145091											
DAPK2	23604	broad.mit.edu	37	chr15	64200767	64200767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagggctttcctcctggcGatgtcctcctcagtgtcact	11	13	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:64200767G>A	uc002amr.2	-	12	1096	c.1065C>T	c.(1063-1065)ATC>ATT	p.I355I	DAPK2_uc010uim.1_RNA	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	355					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		TCCTCCTGGCGATGTCCTCCT	0.617													A	64200767	G	A	64200767	2	1	281	1	0	0	0	0	0	0	0	1	4236	1048	37	1		1	DAPK2	15	64200767	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	5894329	64200767	38330625	213	145092											
LARP6	55323	broad.mit.edu	37	chr15	71124440	71124440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaatcctctggtgttgTcaggacccctgggcaacctc	10	13	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:71124440T>G	uc002ass.2	-	3	1498	c.1427A>C	c.(1426-1428)GAC>GCC	p.D476A		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	476					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						TCTGGTGTTGTCAGGACCCCT	0.527													G	71124440	T	G	71124440	3	3	281	1	0	0	0	0	1	0	0	0	8632	1667	58	5	52	5	LARP6	15	71124440	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	6923673	71124440	31406952	214	145093											
PKM2	5315	broad.mit.edu	37	chr15	72499084	72499084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaggtgctgcatgcgCacagcctccagaggatagtc	11	14	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:72499084C>T	uc002atx.1	-	8	1366	c.1125G>A	c.(1123-1125)GTG>GTA	p.V375V	PKM2_uc002ats.1_Silent_p.V42V|PKM2_uc002att.1_Silent_p.V141V|PKM2_uc002atu.1_Silent_p.V141V|PKM2_uc010bit.1_Silent_p.V380V|PKM2_uc010uki.1_Silent_p.V449V|PKM2_uc002atv.1_Silent_p.V410V|PKM2_uc002atw.1_Silent_p.V375V|PKM2_uc002aty.1_Silent_p.V375V|PKM2_uc010ukj.1_Silent_p.V360V|PKM2_uc010ukk.1_Silent_p.V301V|PKM2_uc010biu.1_Silent_p.V396V|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	375	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	GCTGCATGCGCACAGCCTCCA	0.597													T	72499084	C	T	72499084	2	4	281	1	0	0	0	0	0	0	0	1	11977	697	25	2		2	PKM2	15	72499084	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1374644	72499084	30032308	215	145094											
CPLX3	594855	broad.mit.edu	37	chr15	75122677	75122677	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatctcaagcaatcagctgaGaagtgtcacgtcatgtgacc	10	10	4	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:75122677G>T	uc002ayu.1	+	3	553	c.459G>T	c.(457-459)GAG>GAT	p.E153D		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	complexin 3 precursor	153						cell junction|synapse	syntaxin binding				0						AATCAGCTGAGAAGTGTCACG	0.592													T	75122677	G	T	75122677	3	4	281	1	0	0	0	0	1	0	0	0	3806	933	33	5	469	5	CPLX3	15	75122677	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2623593	75122677	27408715	216	145095											
BAIAP3	8938	broad.mit.edu	37	chr16	1395887	1395887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgggcacccagcttgGccaggtgtgtgggtgggccc	20	11	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:1395887G>T	uc002clk.1	+	23	2309	c.2309G>T	c.(2308-2310)GGC>GTC	p.G770V	BAIAP3_uc002clj.2_Missense_Mutation_p.G752V|BAIAP3_uc010uuz.1_Missense_Mutation_p.G735V|BAIAP3_uc010uva.1_Missense_Mutation_p.G707V|BAIAP3_uc010uvc.1_Missense_Mutation_p.G699V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	770	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ACCCAGCTTGGCCAGGTGTGT	0.706													T	1395887	G	T	1395887	3	4	281	1	0	0	0	0	1	0	0	0	1304	1203	42	5	2399	5	BAIAP3	16	1395887	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08		1395887	88958866	217	145096											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888680	29888680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgaggtcgggcccagaGgagagaaggcggcggcgcgg	22	8	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:29888680G>A	uc002duq.3	-	11	2061	c.1821C>T	c.(1819-1821)TCC>TCT	p.S607S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.S537S|SEZ6L2_uc002dur.3_Silent_p.S537S|SEZ6L2_uc002dus.3_Silent_p.S493S|SEZ6L2_uc010vec.1_Silent_p.S607S|SEZ6L2_uc010ved.1_Silent_p.S563S	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	607	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CGGGCCCAGAGGAGAGAAGGC	0.672													A	29888680	G	A	29888680	2	1	281	1	0	0	0	0	0	0	0	1	14144	987	35	4		4	SEZ6L2	16	29888680	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	28492793	29888680	60466073	218	145097											
STX4	6810	broad.mit.edu	37	chr16	31049878	31049878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccttaaatgagatctcGgcccggcacagtgagatcca	11	12	1	2	rs114513418	by1000genomes	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:31049878G>A	uc002eal.2	+	8	836	c.612G>A	c.(610-612)TCG>TCA	p.S204S	STX4_uc002eak.2_Silent_p.S202S|STX4_uc002eam.2_Silent_p.S126S	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	204	Cytoplasmic (Potential).|Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				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				0						ATGAGATCTCGGCCCGGCACA	0.572													A	31049878	G	A	31049878	2	1	281	1	0	0	0	0	0	0	0	1	15346	1103	39	1		1	STX4	16	31049878	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1161198	31049878	59304875	219	145098											
RLTPR	146206	broad.mit.edu	37	chr16	67686189	67686189	+	Frame_Shift_Del	DEL	G	G	-													agcccagcctccttgagcctGgggaattggaaggtcttttc							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:67686189delG	uc002etn.2	+	27	2884	c.2764delG	c.(2764-2766)GGGfs	p.G922fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.G915fs|RLTPR_uc010vjr.1_Frame_Shift_Del_p.G886fs|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	922	Pro-rich.									breast(1)	1		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)		CCTTGAGCCTGGGGAATTGGA	0.498													-	67686189	G	-	67686189	7	5	281	1	0	1	0	1	0	0	0	0	13394	1348	47	0	2870	0	RLTPR	16	67686189	Frame_Shift_Del	DEL	G	TCGA-HU-A4H5-01A-21D-A25D-08	36636311	67686189	22668564	220	145099											
MARVELD3	91862	broad.mit.edu	37	chr16	71668441	71668441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgttggacatgctcatcgCgggggggtacatcccggcct	14	12	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:71668441C>A	uc002fat.2	+	3	1004	c.941C>A	c.(940-942)GCG>GAG	p.A314E	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	314	MARVEL.|Helical; (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTAC	0.577													A	71668441	C	A	71668441	3	1	281	1	0	0	0	0	1	0	0	0	9319	768	27	5	951	5	MARVELD3	16	71668441	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	3982252	71668441	18686312	221	145100											
ANKRD11	29123	broad.mit.edu	37	chr16	89357231	89357231	+	Frame_Shift_Del	DEL	T	T	-													ggaggggtgctttggtgttgTgtccactgcaggccaaggag							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:89357230_89357230GT>G	uc002fmx.1	-	5	865	c.404_404AC>C	c.(403-405)acafs	p.T135fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.T135fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.T135fs|ANKRD11_uc002fnd.3_Frame_Shift_Del_p.T101fs|ANKRD11_uc002fne.3_Frame_Shift_Del_p.T101fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.T92fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	135						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)		CTTTGGTGTTGTGTCCACTGC	0.537													-	89357231	T	-	89357231	7	5	281	1	0	1	0	1	0	0	0	0	639	1696	59	0	7620	0	ANKRD11	16	89357231	Frame_Shift_Del	DEL	T	TCGA-HU-A4H5-01A-21D-A25D-08	17688790	89357231	997522	222	145101											
ATP2A3	489	broad.mit.edu	37	chr17	3839595	3839595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcggaagaagagccagccActgatgagggcttctcgggg	15	9	1	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:3839595A>C	uc002fxb.1	-	16	2641	c.2490T>G	c.(2488-2490)AGT>AGG	p.S830R	ATP2A3_uc002fwx.1_Missense_Mutation_p.S830R|ATP2A3_uc002fwy.1_Missense_Mutation_p.S830R|ATP2A3_uc002fwz.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxa.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxc.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxd.1_Missense_Mutation_p.S830R	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	830	Helical; Name=7; (By similarity).				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			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGAGCCAGCCACTGATGAGGG	0.602													C	3839595	A	C	3839595	3	2	281	1	0	0	0	0	1	0	0	0	1138	156	6	5	744	5	ATP2A3	17	3839595	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08		3839595	77355615	223	145102											
SPNS2	124976	broad.mit.edu	37	chr17	4416589	4416589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggtcaaggaccgaggcGccggcctgctgcagtcaggt	17	11	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:4416589G>A	uc002fxx.2	+	2	632	c.418G>A	c.(418-420)GCC>ACC	p.A140T		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	140					lipid transport|transmembrane transport	integral to membrane					0						GGACCGAGGCGCCGGCCTGCT	0.667													A	4416589	G	A	4416589	3	1	281	1	0	0	0	0	1	0	0	0	15074	1087	38	1	424	1	SPNS2	17	4416589	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	576994	4416589	76778621	224	145103											
NLRP1	22861	broad.mit.edu	37	chr17	5442791	5442791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacagagcagtcgcacGccaacgtcatccaggttgtt	9	15	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:5442791G>A	uc002gci.2	-	7	3369	c.2814C>T	c.(2812-2814)GGC>GGT	p.G938G	NLRP1_uc002gcg.1_Silent_p.G938G|NLRP1_uc002gck.2_Silent_p.G938G|NLRP1_uc002gcj.2_Silent_p.G938G|NLRP1_uc002gcl.2_Silent_p.G938G|NLRP1_uc002gch.3_Silent_p.G938G|NLRP1_uc010clh.2_Silent_p.G938G	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	938	LRR 5.				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			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GCAGTCGCACGCCAACGTCAT	0.622													A	5442791	G	A	5442791	2	1	281	1	0	0	0	0	0	0	0	1	10471	1074	38	1		1	NLRP1	17	5442791	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1026202	5442791	75752419	225	145104											
CHD3	1107	broad.mit.edu	37	chr17	7794305	7794305	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgacctggggcctGgaggatgtggagcatgtgtt	16	8	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:7794305G>T	uc002gje.2	+	4	582	c.432G>T	c.(430-432)CTG>CTT	p.L144L	CHD3_uc002gjd.2_Silent_p.L203L|CHD3_uc002gjf.2_Silent_p.L144L|CHD3_uc002gjg.1_5'UTR	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	144					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(1)	1		Prostate(122;0.202)				CCTGGGGCCTGGAGGATGTGG	0.552													T	7794305	G	T	7794305	2	4	281	1	0	0	0	0	0	0	0	1	3326	1335	47	5		5	CHD3	17	7794305	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2351514	7794305	73400905	226	145105											
AURKB	9212	broad.mit.edu	37	chr17	8108360	8108360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcggggaactttaggtcCacctgcaggtgtgaagagat	15	7	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:8108360C>T	uc002gkm.2	-	9	925	c.864G>A	c.(862-864)GTG>GTA	p.V288V	AURKB_uc010cnu.2_Silent_p.V108V|AURKB_uc002gkn.2_Silent_p.V289V|AURKB_uc010vuu.1_Silent_p.V247V|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	288	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			lung(2)|breast(1)|central_nervous_system(1)	4						ACTTTAGGTCCACCTGCAGGT	0.557													T	8108360	C	T	8108360	2	4	281	1	0	0	0	0	0	0	0	1	1223	581	21	4		4	AURKB	17	8108360	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	314055	8108360	73086850	227	145106											
MAP2K4	6416	broad.mit.edu	37	chr17	12013711	12013722	+	In_Frame_Del	DEL	ACTTAAAAGAAA	ACTTAAAAGAAA	-													gactgtgaaagcactaaaccActtaaaagaaaacttgaaaa							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:12013710_12013721CACTTAAAAGAAA>C	uc002gnj.3	+	5	721_732	c.652_663CACTTAAAAGAAA>C	c.(652-663)cacttaaaagaa>C	p.HLKE218del	MAP2K4_uc002gnk.3_In_Frame_Del_p.HLKE229del|MAP2K4_uc010vvi.2_In_Frame_Del_p.HLKE100del|MAP2K4_uc010vvj.2_In_Frame_Del_p.HLKE90del	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	218	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|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.E221*(4)|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)		AGCACTAAACCACTTAAAAGAAAACTTGAAAA	0.311			"D, Mis, N"		"pancreatic, breast, colorectal"								-	12013722	ACTTAAAAGAAA	-	12013711	7	5	281	1	0	1	0	1	0	0	0	0	9239	159	6	0	675	0	MAP2K4	17	12013711	In_Frame_Del	DEL	ACTTAAAAGAAA	TCGA-HU-A4H5-01A-21D-A25D-08	3905351	12013711	69181499	228	145107											
SLC6A4	6532	broad.mit.edu	37	chr17	28537594	28537594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacggcgagcacgaaccgcTcccggcgcttggcccagacg	13	18	0	1	rs35514331		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:28537594T>C	uc002hey.3	-	11	1932	c.1388A>G	c.(1387-1389)GAG>GGG	p.E463G	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	463					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			skin(3)|ovary(1)	4					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)	CACGAACCGCTCCCGGCGCTT	0.597													C	28537594	T	C	28537594	3	2	281	1	0	0	0	0	1	0	0	0	14686	1551	54	3	524	3	SLC6A4	17	28537594	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	16523883	28537594	52657616	229	145108											
MSL1	339287	broad.mit.edu	37	chr17	38282661	38282661	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaagggacataaaaggTgtgctgataactttgtttga	13	3	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:38282661T>A	uc002hub.2	+	2	408	c.389_splice	c.e2+2	p.R130_splice	MSL1_uc002hua.3_Splice_Site_p.R68_splice|MSL1_uc002huc.2_Splice_Site_p.R68_splice	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin						histone H4-K16 acetylation	MSL complex					0						ACATAAAAGGTGTGCTGATAA	0.448													A	38282661	T	A	38282661	5	1	281	1	0	0	0	0	0	0	1	0	9877	1710	59	5	207	5	MSL1	17	38282661	Splice_Site	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	9745067	38282661	42912549	230	145109											
TNS4	84951	broad.mit.edu	37	chr17	38645216	38645216	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcacctcgatgtactTtatgtctttgggggagaaaa	13	6	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:38645216T>A	uc010cxb.2	-	3	609	c.445A>T	c.(445-447)AAG>TAG	p.K149*		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	149					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCGATGTACTTTATGTCTTTG	0.443													A	38645216	T	A	38645216	4	1	281	1	0	0	0	0	0	1	0	0	16342	1850	64	5	1746	5	TNS4	17	38645216	Nonsense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	362555	38645216	42549994	231	145110											
KRT9	3857	broad.mit.edu	37	chr17	39728197	39728197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggccgcccccgccaccCccgccgctgcggctcaagta	10	23	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:39728197C>T	uc002hxe.3	-	1	114	c.48G>A	c.(46-48)GGG>GGA	p.G16G	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	16	Poly-Gly.|Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				CCCCGCCACCCCCGCCGCTGC	0.647													T	39728197	C	T	39728197	2	4	281	1	0	0	0	0	0	0	0	1	8501	610	22	4		4	KRT9	17	39728197	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1082981	39728197	41467013	232	145111											
RUNDC3A	10900	broad.mit.edu	37	chr17	42392111	42392111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccacagacggttctAtgactctggagccatcatgc	9	15	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:42392111A>G	uc002igl.3	+	5	741	c.467A>G	c.(466-468)TAT>TGT	p.Y156C	RUNDC3A_uc002igi.2_Missense_Mutation_p.Y156C|RUNDC3A_uc002igj.2_Missense_Mutation_p.Y151C|RUNDC3A_uc002igk.2_Missense_Mutation_p.Y152C	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 1	156	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGACGGTTCTATGACTCTGGA	0.642													G	42392111	A	G	42392111	3	3	281	1	0	0	0	0	1	0	0	0	13744	449	16	3	485	3	RUNDC3A	17	42392111	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	2663914	42392111	38803099	233	145112											
HIGD1B	51751	broad.mit.edu	37	chr17	42926756	42926756	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggtgcaatcatgctaGgtgagtagctttgtggggtc	16	6	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:42926756G>C	uc002ihm.2	+	2	477	c.235G>C	c.(235-237)GGT>CGT	p.G79R		NM_016438	NP_057522	Q9P298	HIG1B_HUMAN	HIG1 hypoxia inducible domain family, member 1B	79	HIG1.|Helical; (Potential).					integral to membrane					0		Prostate(33;0.109)				AATCATGCTAGGTGAGTAGCT	0.483													C	42926756	G	C	42926756	3	2	281	1	0	0	0	0	1	0	0	0	7107	1014	35	5	241	5	HIGD1B	17	42926756	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	534645	42926756	38268454	234	145113											
KIF18B	146909	broad.mit.edu	37	chr17	43005443	43005443	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagctcctggggtattttgtCccagccaatgcattcatgga	10	11	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:43005443C>G	uc010wji.1	-	13	2337	c.2236G>C	c.(2236-2238)GAC>CAC	p.D746H	KIF18B_uc002iht.2_Missense_Mutation_p.D755H|KIF18B_uc010wjh.1_Missense_Mutation_p.D743H	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				GGTATTTTGTCCCAGCCAATG	0.602													G	43005443	C	G	43005443	3	3	281	1	0	0	0	0	1	0	0	0	8281	855	30	5	346	5	KIF18B	17	43005443	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	78687	43005443	38189767	235	145114											
UTP18	51096	broad.mit.edu	37	chr17	49354532	49354532	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaattcagagcatctatttGgaaaggtttccaatctttaa	6	6	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:49354532G>C	uc002its.2	+	7	928	c.879G>C	c.(877-879)TTG>TTC	p.L293F		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	293	WD 2.				rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCATCTATTTGGAAAGGTTTC	0.383													C	49354532	G	C	49354532	3	2	281	1	0	0	0	0	1	0	0	0	17095	1339	47	5	905	5	UTP18	17	49354532	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	6349089	49354532	31840678	236	145115											
KIF2B	84643	broad.mit.edu	37	chr17	51900950	51900950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataccagaaaccccaactacGaaatcatgcacatgatcgaa	5	12	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:51900950G>A	uc002iua.2	+	1	712	c.556G>A	c.(556-558)GAA>AAA	p.E186K	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	186					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			ovary(5)|skin(3)	8						CCCCAACTACGAAATCATGCA	0.567													A	51900950	G	A	51900950	3	1	281	1	0	0	0	0	1	0	0	0	8298	1059	37	1	558	1	KIF2B	17	51900950	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2546418	51900950	29294260	237	145116											
HEATR6	63897	broad.mit.edu	37	chr17	58123518	58123518	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgatttctgcaaatgTgggtttttctatatgagagg	10	5	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:58123518T>G	uc002iyk.1	-	19	2859	c.2842A>C	c.(2842-2844)ACA>CCA	p.T948P	HEATR6_uc010ddk.1_Missense_Mutation_p.T487P|HEATR6_uc010wos.1_Missense_Mutation_p.T668P	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	948							binding			ovary(1)|skin(1)	2	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)			TCTGCAAATGTGGGTTTTTCT	0.398													G	58123518	T	G	58123518	3	3	281	1	0	0	0	0	1	0	0	0	7033	1696	59	5	711	5	HEATR6	17	58123518	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	6222568	58123518	23071692	238	145117											
CCDC47	57003	broad.mit.edu	37	chr17	61829423	61829443	+	In_Frame_Del	DEL	GTTCTCTTCTACTCGGGCACG	GTTCTCTTCTACTCGGGCACG	-													acatgtgtcagtttcaagaaGttctcttctactcgggcacg							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:61829422_61829442AGTTCTCTTCTACTCGGGCACG>A	uc002jbs.4	-	11	1565_1585	c.1229_1249CGTGCCCGAGTAGAAGAGAACT>T	c.(1228-1251)cgtgcccgagtagaagagaacttc>cTtc	p.410_417RARVEENF>L	CCDC47_uc010ddx.3_In_Frame_Del_p.410_417RARVEENF>L|CCDC47_uc002jbt.2_In_Frame_Del_p.410_417RARVEENF>L	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	410						integral to membrane	protein binding	p.R412R(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTTTCAAGAAGTTCTCTTCTACTCGGGCACGGTTCTTATC	0.43													-	61829443	GTTCTCTTCTACTCGGGCACG	-	61829423	7	5	281	1	0	1	0	1	0	0	0	0	2818	1020	36	0	211	0	CCDC47	17	61829423	In_Frame_Del	DEL	GTTCTCTTCTACTCGGGCACG	TCGA-HU-A4H5-01A-21D-A25D-08	3705905	61829423	19365787	239	145118											
DDX5	1655	broad.mit.edu	37	chr17	62496077	62496077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttggcattggataaccaatCataggtgcagctgcagtagc	12	8	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:62496077C>T	uc002jek.2	-	13	2056	c.1809G>A	c.(1807-1809)ATG>ATA	p.M603I	POLG2_uc002jei.2_5'Flank|POLG2_uc010deg.1_5'Flank|DDX5_uc010deh.2_Missense_Mutation_p.M603I|DDX5_uc002jej.2_Missense_Mutation_p.M498I|DDX5_uc010wqa.1_Missense_Mutation_p.M524I	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	603					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			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GATAACCAATCATAGGTGCAG	0.363			T	ETV4	prostate								T	62496077	C	T	62496077	3	4	281	1	0	0	0	0	1	0	0	0	4367	826	29	4	39	4	DDX5	17	62496077	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	666654	62496077	18699133	240	145119											
AXIN2	8313	broad.mit.edu	37	chr17	63554148	63554148	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccccactcctcacatattcGaggtatatatcagaagtcaa	5	13	3	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:63554148G>C	uc002jfi.2	-	2	880	c.591C>G	c.(589-591)CTC>CTG	p.L197L	AXIN2_uc010den.1_Silent_p.L197L|AXIN2_uc002jfh.2_Silent_p.L197L|AXIN2_uc002jfj.1_Silent_p.L197L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	197	RGS.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						TCACATATTCGAGGTATATAT	0.483									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				C	63554148	G	C	63554148	2	2	281	1	0	0	0	0	0	0	0	1	1237	1045	37	5		5	AXIN2	17	63554148	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1058071	63554148	17641062	241	145120											
BPTF	2186	broad.mit.edu	37	chr17	65862627	65862627	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaatttggtattacaGcacaaaggtccaacttgcag	8	7	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:65862627G>C	uc002jgf.2	+	3	1545	c.1484G>C	c.(1483-1485)AGC>ACC	p.S495T	BPTF_uc002jge.2_Missense_Mutation_p.S495T|BPTF_uc010wqm.1_Missense_Mutation_p.S495T	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	495					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			ovary(2)|skin(2)	4	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)			TGGTATTACAGCACAAAGGTC	0.333													C	65862627	G	C	65862627	3	2	281	1	0	0	0	0	1	0	0	0	1495	971	34	5	1494	5	BPTF	17	65862627	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2308479	65862627	15332583	242	145121											
ABCA8	10351	broad.mit.edu	37	chr17	66929370	66929370	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaccttccttccaaaatactGaaacttcacagtaaacatct	2	12	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:66929370G>C	uc002jhp.2	-	5	688	c.509C>G	c.(508-510)TCA>TGA	p.S170*	ABCA8_uc002jhq.2_Nonsense_Mutation_p.S170*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.S170*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.S109*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.S170*|ABCA8_uc002jhs.2_Nonsense_Mutation_p.S170*|ABCA8_uc002jht.2_Nonsense_Mutation_p.S170*	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	170						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CCAAAATACTGAAACTTCACA	0.299													C	66929370	G	C	66929370	4	2	281	1	0	0	0	0	0	1	0	0	38	1294	45	5	4372	5	ABCA8	17	66929370	Nonsense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1066743	66929370	14265840	243	145122											
AZI1	22994	broad.mit.edu	37	chr17	79180992	79180992	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggcctctttttcccaCtggggctgccctcgaagagc	12	14	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:79180992C>G	uc002jzp.1	-	4	520	c.320G>C	c.(319-321)AGT>ACT	p.S107T	AZI1_uc002jzn.1_Missense_Mutation_p.S107T|AZI1_uc002jzo.1_Missense_Mutation_p.S107T|AZI1_uc010wum.1_Missense_Mutation_p.S107T	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	107					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTTTTCCCACTGGGGCTGCC	0.647													G	79180992	C	G	79180992	3	3	281	1	0	0	0	0	1	0	0	0	1240	565	20	5	3014	5	AZI1	17	79180992	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	12251622	79180992	2014218	244	145123											
SLC38A10	124565	broad.mit.edu	37	chr17	79226981	79226981	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgctccagctcctctctctCcttcggcagcttcggcttct	7	18	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:79226981C>G	uc002jzz.1	-	12	1723	c.1348G>C	c.(1348-1350)GAG>CAG	p.E450Q	SLC38A10_uc002jzy.1_Missense_Mutation_p.E368Q|SLC38A10_uc002kab.2_Missense_Mutation_p.E450Q	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	450					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCTCTCTCTCCTTCGGCAGC	0.657											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	79226981	C	G	79226981	3	3	281	1	0	0	0	0	1	0	0	0	14602	864	30	5	2309	5	SLC38A10	17	79226981	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	45989	79226981	1968229	245	145124											
HGS	9146	broad.mit.edu	37	chr17	79667525	79667555	+	Frame_Shift_Del	DEL	CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC	CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC	-													atggtgagtgcctacatgtaCccagcaggggccactggggc							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:79667524_79667554ACCCAGCAGGGGCCACTGGGGCGCAGGCGGCC>A	uc002kbg.3	+	18	2045_2075	c.1910_1940ACCCAGCAGGGGCCACTGGGGCGCAGGCGGCC>A	c.(1909-1941)tacccagcaggggccactggggcgcaggcggccfs	p.Y637fs	SLC25A10_uc002kbh.2_5'Flank|SLC25A10_uc010wut.2_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	637	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|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)			GCCTACATGTACCCAGCAGGGGCCACTGGGGCGCAGGCGGCCCCCCAGGCC	0.645													-	79667555	CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC	-	79667525	7	5	281	1	0	1	0	1	0	0	0	0	7087	518	18	0	1985	0	HGS	17	79667525	Frame_Shift_Del	DEL	CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC	TCGA-HU-A4H5-01A-21D-A25D-08	440544	79667525	1527685	246	145125											
SMAD7	4092	broad.mit.edu	37	chr18	46476217	46476217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctaaggtgatgggggttgCagcacaccagctcggggttg	18	8	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr18:46476217C>T	uc002ldg.2	-	1	865	c.578G>A	c.(577-579)TGC>TAC	p.C193Y	SMAD7_uc010xde.1_5'Flank	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	193	MH1.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					ATGGGGGTTGCAGCACACCAG	0.557											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46476217	C	T	46476217	3	4	281	1	0	0	0	0	1	0	0	0	14763	710	25	2	718	2	SMAD7	18	46476217	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		46476217	31601031	247	145126											
C19orf29	58509	broad.mit.edu	37	chr19	3613108	3613108	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcgctgcaggtcctcatcCggttccagcacgtgcgcgtc	13	15	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:3613108C>A	uc002lyh.2	-	9	1787	c.1734G>T	c.(1732-1734)CCG>CCT	p.P578P	C19orf29_uc010xho.1_Silent_p.P37P|C19orf29_uc010dtn.2_Silent_p.P426P|C19orf29_uc002lyi.3_Silent_p.P578P|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	578						catalytic step 2 spliceosome	protein binding				0		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)		GGTCCTCATCCGGTTCCAGCA	0.711													A	3613108	C	A	3613108	2	1	281	1	0	0	0	0	0	0	0	1	1918	639	23	5		5	C19orf29	19	3613108	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		3613108	55515875	248	145127											
DAPK3	1613	broad.mit.edu	37	chr19	3969677	3969677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagacagctcacctgccCagctcctcccccatctcata	7	19	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:3969677C>T	uc002lzc.1	-	1	150	c.57G>A	c.(55-57)CTG>CTA	p.L19L	DAPK3_uc002lzd.1_Silent_p.L19L	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	19	ATP (By similarity).|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			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		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)		CTCACCTGCCCAGCTCCTCCC	0.607											OREG0025158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3969677	C	T	3969677	2	4	281	1	0	0	0	0	0	0	0	1	4237	581	21	4		4	DAPK3	19	3969677	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	356569	3969677	55159306	249	145128											
PTPRS	5802	broad.mit.edu	37	chr19	5212247	5212247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgataaagcagcctgtgCggcccacaccggcactgcag	12	14	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:5212247C>T	uc002mbv.2	-	32	5018	c.4784G>A	c.(4783-4785)CGC>CAC	p.R1595H	PTPRS_uc002mbu.1_Missense_Mutation_p.R1164H|PTPRS_uc010xin.1_Missense_Mutation_p.R1137H|PTPRS_uc002mbw.2_Missense_Mutation_p.R1557H|PTPRS_uc002mbx.2_Missense_Mutation_p.R1152H|PTPRS_uc002mby.2_Missense_Mutation_p.R1148H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1595	Substrate binding (By similarity).|Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCAGCCTGTGCGGCCCACACC	0.652													T	5212247	C	T	5212247	3	4	281	1	0	0	0	0	1	0	0	0	12811	768	27	1	1090	1	PTPRS	19	5212247	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	1242570	5212247	53916736	250	145129											
FBN3	84467	broad.mit.edu	37	chr19	8203127	8203127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccatgccattggatcCgaagcccaggaggccaggga	15	12	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:8203127C>T	uc002mjf.2	-	9	1120	c.1099G>A	c.(1099-1101)GGA>AGA	p.G367R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	367						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CCATTGGATCCGAAGCCCAGG	0.642													T	8203127	C	T	8203127	3	4	281	1	0	0	0	0	1	0	0	0	5704	661	23	1	7550	1	FBN3	19	8203127	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	2990880	8203127	50925856	251	145130											
ANGPTL6	83854	broad.mit.edu	37	chr19	10205482	10205482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgcaggcatgggagaagCcatgggctcctgctgtctct	13	12	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:10205482C>A	uc002mmx.1	-	3	833	c.715G>T	c.(715-717)GCT>TCT	p.A239S	ANGPTL6_uc002mmy.1_Missense_Mutation_p.A239S	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	239					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			ATGGGAGAAGCCATGGGCTCC	0.597													A	10205482	C	A	10205482	3	1	281	1	0	0	0	0	1	0	0	0	618	739	26	5	713	5	ANGPTL6	19	10205482	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	2002355	10205482	48923501	252	145131											
DNM2	1785	broad.mit.edu	37	chr19	10893683	10893683	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaggatattgagggcaagAaggacatccgtgcagcactg	14	7	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:10893683A>T	uc002mps.1	+	6	900	c.736A>T	c.(736-738)AAG>TAG	p.K246*	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpv.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpu.1_Nonsense_Mutation_p.K246*|DNM2_uc010dxl.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpw.2_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	246					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			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGAGGGCAAGAAGGACATCCG	0.607													T	10893683	A	T	10893683	4	4	281	1	0	0	0	0	0	1	0	0	4672	247	9	5	758	5	DNM2	19	10893683	Nonsense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	688201	10893683	48235300	253	145132											
ZNF799	90576	broad.mit.edu	37	chr19	12491160	12491168	+	In_Frame_Del	DEL	TCTTTGAAA	TCTTTGAAA	-													ctagtgtgagtcctttcatgTctttgaaatccaatgaaata							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:12491159_12491167GTCTTTGAAA>G	uc002mts.4	-	3	1429_1437	c.909_917TTTCAAAGAC>C	c.(907-918)atttcaaagaca>atCa	p.SKT304del				Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	607					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						GTCCTTTCATGTCTTTGAAATCCAATGAA	0.383													-	12491168	TCTTTGAAA	-	12491160	7	5	281	1	0	1	0	1	0	0	0	0	18163	1682	58	0		0	ZNF799	19	12491160	In_Frame_Del	DEL	TCTTTGAAA	TCGA-HU-A4H5-01A-21D-A25D-08	1597477	12491160	46637823	254	145133											
MAST1	22983	broad.mit.edu	37	chr19	12984515	12984515	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcggcccagcacgctgcacGgactgtcgccaaagctccat	10	16	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:12984515G>C	uc002mvm.2	+	26	3672	c.3544G>C	c.(3544-3546)GGA>CGA	p.G1182R		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1182					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CACGCTGCACGGACTGTCGCC	0.687													C	12984515	G	C	12984515	3	2	281	1	0	0	0	0	1	0	0	0	9324	1117	39	5	3646	5	MAST1	19	12984515	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	493355	12984515	46144468	255	145134											
CACNA1A	773	broad.mit.edu	37	chr19	13418938	13418938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgaaggacttactggcCgccgaagagttgcattccca	11	12	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:13418938C>A	uc010dze.2	-	14	2148	c.1912G>T	c.(1912-1914)GGC>TGC	p.G638C	CACNA1A_uc010dzc.2_Missense_Mutation_p.G163C|CACNA1A_uc002mwy.3_Missense_Mutation_p.G637C|CACNA1A_uc010xne.1_Missense_Mutation_p.G163C	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	638	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTTACTGGCCGCCGAAGAGT	0.547													A	13418938	C	A	13418938	3	1	281	1	0	0	0	0	1	0	0	0	2538	652	23	5	5858	5	CACNA1A	19	13418938	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	434423	13418938	45710045	256	145135											
DDX39	10212	broad.mit.edu	37	chr19	14521880	14521880	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaagctcctattccgcacGagcgccaggatgcggcccgg	13	15	0	1	rs142002555	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:14521880G>A	uc010xnp.1	-	5	579	c.534C>T	c.(532-534)CTC>CTT	p.L178L	DDX39_uc002myo.2_Silent_p.L178L|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Silent_p.L178L	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	178	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						TATTCCGCACGAGCGCCAGGA	0.557													A	14521880	G	A	14521880	2	1	281	1	0	0	0	0	0	0	0	1	4357	1045	37	1		1	DDX39	19	14521880	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1102942	14521880	44607103	257	145136											
AKAP8	10270	broad.mit.edu	37	chr19	15484654	15484654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcccctgcctccttccTtggacatcatgtccaaacgc	6	19	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:15484654T>C	uc002nav.2	-	4	375	c.314A>G	c.(313-315)AAG>AGG	p.K105R	AKAP8_uc010dzy.2_5'Flank|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Intron	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	105					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GCCTCCTTCCTTGGACATCAT	0.637													C	15484654	T	C	15484654	3	2	281	1	0	0	0	0	1	0	0	0	457	1609	56	3	1808	3	AKAP8	19	15484654	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	962774	15484654	43644329	258	145137											
CYP4F3	4051	broad.mit.edu	37	chr19	15769193	15769193	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgtgctcccagacggccGggtcatccccaaaggtgcca	11	15	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:15769193G>T	uc002nbj.2	+	10	1285	c.1235G>T	c.(1234-1236)CGG>CTG	p.R412L	CYP4F3_uc010xok.1_Missense_Mutation_p.R412L|CYP4F3_uc010xol.1_Missense_Mutation_p.R412L|CYP4F3_uc010xom.1_Missense_Mutation_p.R263L|CYP4F3_uc002nbk.2_Missense_Mutation_p.R412L|CYP4F3_uc010xon.1_Missense_Mutation_p.R122L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	412					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			ovary(3)	3						CCAGACGGCCGGGTCATCCCC	0.637													T	15769193	G	T	15769193	3	4	281	1	0	0	0	0	1	0	0	0	4190	1116	39	5	1269	5	CYP4F3	19	15769193	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	284539	15769193	43359790	259	145138											
ZNF93	81931	broad.mit.edu	37	chr19	20045443	20045443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacataagatacttcataCtggagagaaaccttatagat	6	7	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:20045443C>A	uc002non.2	+	4	1790	c.1679C>A	c.(1678-1680)ACT>AAT	p.T560N		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	560						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						ATACTTCATACTGGAGAGAAA	0.368													A	20045443	C	A	20045443	3	1	281	1	0	0	0	0	1	0	0	0	18199	565	20	5	1693	5	ZNF93	19	20045443	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	4276250	20045443	39083540	260	145139											
ZNF626	199777	broad.mit.edu	37	chr19	20808345	20808345	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttatacatcctttttttAactgtaaattgtcatgttca	3	8	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:20808345A>T	uc002npb.1	-	4	488	c.338T>A	c.(337-339)TTA>TAA	p.L113*	ZNF626_uc002npc.1_Nonsense_Mutation_p.L37*	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCCTTTTTTTAACTGTAAATT	0.353													T	20808345	A	T	20808345	4	4	281	1	0	0	0	0	0	1	0	0	18047	372	13	5	1252	5	ZNF626	19	20808345	Nonsense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	762902	20808345	38320638	261	145140											
ZNF536	9745	broad.mit.edu	37	chr19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctgttcatcaggccagaCatcctgaggggggccttcaa	11	12	4	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:31039034C>A	uc002nsu.1	+	4	2646	c.2508C>A	c.(2506-2508)GAC>GAA	p.D836E	ZNF536_uc010edd.1_Missense_Mutation_p.D836E	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TCAGGCCAGACATCCTGAGGG	0.582													A	31039034	C	A	31039034	3	1	281	1	0	0	0	0	1	0	0	0	17971	477	17	5	2518	5	ZNF536	19	31039034	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	10230689	31039034	28089949	262	145141											
LRP3	4037	broad.mit.edu	37	chr19	33698246	33698246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgcgagacccagagtGcaggcccgtggacaaggaca	16	12	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:33698246G>T	uc010edh.2	+	7	2171	c.2078G>T	c.(2077-2079)TGC>TTC	p.C693F	LRP3_uc002nuk.3_Missense_Mutation_p.C567F	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	693	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					GACCCAGAGTGCAGGCCCGTG	0.711													T	33698246	G	T	33698246	3	4	281	1	0	0	0	0	1	0	0	0	8958	1319	46	5	2104	5	LRP3	19	33698246	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2659212	33698246	25430737	263	145142											
RYR1	6261	broad.mit.edu	37	chr19	39062794	39062794	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggcgatgaggatgagaacAtggtgtactacttcctggag	15	6	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:39062794A>T	uc002oit.2	+	95	14012	c.13882A>T	c.(13882-13884)ATG>TTG	p.M4628L	RYR1_uc002oiu.2_Missense_Mutation_p.M4623L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4628					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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGATGAGAACATGGTGTACTA	0.607													T	39062794	A	T	39062794	3	4	281	1	0	0	0	0	1	0	0	0	13768	217	8	5	14260	5	RYR1	19	39062794	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	5364548	39062794	20066189	264	145143											
AXL	558	broad.mit.edu	37	chr19	41765531	41765531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacagagctgcgggaagatTtggagaacacactgaaggcc	13	8	0	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:41765531T>G	uc010ehj.2	+	20	2597	c.2407T>G	c.(2407-2409)TTG>GTG	p.L803V	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.L794V	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	803	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GCGGGAAGATTTGGAGAACAC	0.562													G	41765531	T	G	41765531	3	3	281	1	0	0	0	0	1	0	0	0	1238	1838	64	5	2485	5	AXL	19	41765531	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	2702737	41765531	17363452	265	145144											
FBXO46	23403	broad.mit.edu	37	chr19	46215449	46215449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgccgtgccctcggcatcGtctgggccgggcgcagtggc	16	16	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:46215449G>A	uc002pcy.2	-	2	1430	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	FBXO46_uc002pcz.2_Silent_p.D435D	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	435							protein binding			ovary(1)|lung(1)|breast(1)	3		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)		CCTCGGCATCGTCTGGGCCGG	0.716													A	46215449	G	A	46215449	2	1	281	1	0	0	0	0	0	0	0	1	5755	1136	40	1		1	FBXO46	19	46215449	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	4449918	46215449	12913534	266	145145											
STRN4	29888	broad.mit.edu	37	chr19	47230796	47230796	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccccgatagtgtccatgatGaagacgtctgaggagaagcc	12	11	1	5			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:47230796G>A	uc002pfl.2	-	9	1194	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	STRN4_uc002pfm.2_Silent_p.F394F|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	387						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		TGTCCATGATGAAGACGTCTG	0.428													A	47230796	G	A	47230796	2	1	281	1	0	0	0	0	0	0	0	1	15330	1281	45	4		4	STRN4	19	47230796	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1015347	47230796	11898187	267	145146											
GLTSCR1	29998	broad.mit.edu	37	chr19	48185352	48185352	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccacccccgtcgccaaaggAgctggcctcggccctcaggc	12	19	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:48185352A>T	uc002phh.3	+	7	2420	c.2226A>T	c.(2224-2226)GGA>GGT	p.G742G	GLTSCR1_uc002phi.3_Silent_p.G500G	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	742							protein binding			pancreas(3)	3		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)		TCGCCAAAGGAGCTGGCCTCG	0.736													T	48185352	A	T	48185352	2	4	281	1	0	0	0	0	0	0	0	1	6474	291	11	5		5	GLTSCR1	19	48185352	Silent	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	954556	48185352	10943631	268	145147											
ALDH16A1	126133	broad.mit.edu	37	chr19	49965150	49965150	+	Frame_Shift_Del	DEL	G	G	-													ggggtccctaggaagggcgtGcccttcgacggagcctggcg							TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:49965150delG	uc002pnt.2	+	7	885	c.769delG	c.(769-771)GCCfs	p.A257fs	ALDH16A1_uc010yar.1_Intron|ALDH16A1_uc010yas.1_Frame_Shift_Del_p.A92fs|ALDH16A1_uc010yat.1_Frame_Shift_Del_p.A94fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	257							oxidoreductase activity|protein binding			skin(1)	1		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)		GGAAGGGCGTGCCCTTCGACG	0.726													-	49965150	G	-	49965150	7	5	281	1	0	1	0	1	0	0	0	0	488	1319	46	0	795	0	ALDH16A1	19	49965150	Frame_Shift_Del	DEL	G	TCGA-HU-A4H5-01A-21D-A25D-08	1779798	49965150	9163833	269	145148											
PRR12	57479	broad.mit.edu	37	chr19	50098928	50098928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccaggcttattcccccGgtcagcctcaagggcttctg	13	14	3	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:50098928G>A	uc002poo.3	+	4	1336	c.1336G>A	c.(1336-1338)GGT>AGT	p.G446S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTATTCCCCCGGTCAGCCTCA	0.687													A	50098928	G	A	50098928	3	1	281	1	0	0	0	0	1	0	0	0	12584	1116	39	1	1350	1	PRR12	19	50098928	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	133778	50098928	9030055	270	145149											
PRKCG	5582	broad.mit.edu	37	chr19	54394966	54394966	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taattcctatggaccccaatGgtctctctgatccctatgtg	7	12	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:54394966G>C	uc002qcq.1	+	6	850	c.568G>C	c.(568-570)GGT>CGT	p.G190R	PRKCG_uc010eqz.1_Missense_Mutation_p.G190R|PRKCG_uc010yef.1_Missense_Mutation_p.G190R|PRKCG_uc010yeg.1_Missense_Mutation_p.G190R|PRKCG_uc010yeh.1_Missense_Mutation_p.G77R	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	190	C2.				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			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	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)		GGACCCCAATGGTCTCTCTGA	0.552													C	54394966	G	C	54394966	3	2	281	1	0	0	0	0	1	0	0	0	12512	1348	47	5	590	5	PRKCG	19	54394966	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	4296038	54394966	4734017	271	145150											
NLRP8	126205	broad.mit.edu	37	chr19	56466661	56466661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacagcaaatggagagaGgaaacaatctcacacagtca	9	8	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:56466661G>A	uc002qmh.2	+	3	1308	c.1237G>A	c.(1237-1239)GGA>AGA	p.G413R	NLRP8_uc010etg.2_Missense_Mutation_p.G413R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	413	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATGGAGAGAGGAAACAATCT	0.478													A	56466661	G	A	56466661	3	1	281	1	0	0	0	0	1	0	0	0	10483	1001	35	4	1247	4	NLRP8	19	56466661	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2071695	56466661	2662322	272	145151											
ZNF530	348327	broad.mit.edu	37	chr19	58115657	58115657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatagcaggtttttgtaGcctttgaggatgtggccatt	11	7	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:58115657G>A	uc002qpk.2	+	2	263	c.43G>A	c.(43-45)GCC>ACC	p.A15T	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GGTTTTTGTAGCCTTTGAGGA	0.522													A	58115657	G	A	58115657	3	1	281	1	0	0	0	0	1	0	0	0	17968	971	34	2	49	2	ZNF530	19	58115657	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1648996	58115657	1013326	273	145152											
RALGAPA2	57186	broad.mit.edu	37	chr20	20453520	20453520	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcacagccctgctggcgttGatgcacgtggcacatacaag	11	12	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:20453520G>A	uc002wrz.2	-	37	5591	c.5448C>T	c.(5446-5448)ATC>ATT	p.I1816I	RALGAPA2_uc010gcx.2_Silent_p.I1520I|RALGAPA2_uc010zsg.1_Silent_p.I1264I|RALGAPA2_uc002wsa.1_Silent_p.I588I	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1816	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TGCTGGCGTTGATGCACGTGG	0.458													A	20453520	G	A	20453520	2	1	281	1	0	0	0	0	0	0	0	1	13014	1280	45	4		4	RALGAPA2	20	20453520	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08		20453520	42572000	274	145153											
PTPRT	11122	broad.mit.edu	37	chr20	41385177	41385177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagcggtacttgctgaCgctccgctgggcagtgtctg	13	13	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:41385177C>T	uc002xkg.2	-	6	968	c.784G>A	c.(784-786)GTC>ATC	p.V262I	PTPRT_uc010ggj.2_Missense_Mutation_p.V262I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	262	Extracellular (Potential).|Ig-like C2-type.				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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTTGCTGACGCTCCGCTGG	0.612													T	41385177	C	T	41385177	3	4	281	1	0	0	0	0	1	0	0	0	12812	536	19	1	3706	1	PTPRT	20	41385177	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	20931657	41385177	21640343	275	145154											
TP53TG5	27296	broad.mit.edu	37	chr20	44003762	44003762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccaacgcagggtggaggAtctgcacatcaccctgggcg	14	13	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:44003762A>G	uc002xny.2	-	4	766	c.685T>C	c.(685-687)TCC>CCC	p.S229P	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	229					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						AGGGTGGAGGATCTGCACATC	0.597													G	44003762	A	G	44003762	3	3	281	1	0	0	0	0	1	0	0	0	16388	333	12	3	195	3	TP53TG5	20	44003762	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	2618585	44003762	19021758	276	145155											
ZNF217	7764	broad.mit.edu	37	chr20	52198293	52198293	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatccgcgtccacggagggcGcttcgccgtgggagtgtttg	17	11	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:52198293G>C	uc002xwq.3	-	1	1344	c.1073C>G	c.(1072-1074)GCG>GGG	p.A358G	ZNF217_uc010gij.1_Missense_Mutation_p.A350G	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	358					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			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	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)			CACGGAGGGCGCTTCGCCGTG	0.562													C	52198293	G	C	52198293	3	2	281	1	0	0	0	0	1	0	0	0	17769	1087	38	5	2089	5	ZNF217	20	52198293	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	8194531	52198293	10827227	277	145156											
CDH26	60437	broad.mit.edu	37	chr20	58560139	58560139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgaccaccgttcacgtggaTgtgcaagaaggcaacaacca	10	12	1	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:58560139T>G	uc002ybe.2	+	7	1092	c.792T>G	c.(790-792)GAT>GAG	p.D264E	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	264	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTCACGTGGATGTGCAAGAAG	0.557													G	58560139	T	G	58560139	3	3	281	1	0	0	0	0	1	0	0	0	3110	1461	51	5	818	5	CDH26	20	58560139	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08	6361846	58560139	4465381	278	145157											
OSBPL2	9885	broad.mit.edu	37	chr20	60859101	60859101	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatcccatttaattacaGcaaaaagaagctctttatga	4	7	1	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:60859101G>A	uc002yck.1	+	10	1075	c.873_splice	c.e10-1	p.N291_splice	OSBPL2_uc002ycl.1_Splice_Site_p.N279_splice|OSBPL2_uc011aah.1_Splice_Site_p.N199_splice|OSBPL2_uc002ycm.1_Splice_Site_p.N103_splice	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform						lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TTTAATTACAGCAAAAAGAAG	0.388													A	60859101	G	A	60859101	5	1	281	1	0	0	0	0	0	0	1	0	11278	985	34	2	906	2	OSBPL2	20	60859101	Splice_Site	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2298962	60859101	2166419	279	145158											
DNAJC5	80331	broad.mit.edu	37	chr20	62559705	62559705	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagaatagcctaacatggcaGaccagagacagcgctcactg	10	11	1	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:62559705G>C	uc002yhf.2	+	2	177	c.7G>C	c.(7-9)GAC>CAC	p.D3H	DNAJC5_uc002yhg.1_Missense_Mutation_p.D3H|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	3					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TAACATGGCAGACCAGAGACA	0.423													C	62559705	G	C	62559705	3	2	281	1	0	0	0	0	1	0	0	0	4650	942	33	5	9	5	DNAJC5	20	62559705	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1700604	62559705	465815	280	145159											
USP25	29761	broad.mit.edu	37	chr21	17172100	17172100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttaatcttttggaatttAgaagattagttctgaattac	6	3	2	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr21:17172100A>G	uc002yjy.1	+	6	797	c.580A>G	c.(580-582)AGA>GGA	p.R194G	USP25_uc011aby.1_Missense_Mutation_p.R194G|USP25_uc002yjz.1_Missense_Mutation_p.R194G|USP25_uc010gla.1_Missense_Mutation_p.R194G	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	194					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				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)		TTTGGAATTTAGAAGATTAGT	0.299													G	17172100	A	G	17172100	3	3	281	1	0	0	0	0	1	0	0	0	17053	412	15	3	602	3	USP25	21	17172100	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08		17172100	30957795	281	145160											
COL6A2	1292	broad.mit.edu	37	chr21	47545507	47545507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacaggctgggtgccatcGctaaggaccccaagtccgag	12	13	1	0	rs142002945		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr21:47545507G>A	uc002zia.1	+	25	2027	c.1945G>A	c.(1945-1947)GCT>ACT	p.A649T	COL6A2_uc002zhy.1_Missense_Mutation_p.A649T|COL6A2_uc002zhz.1_Missense_Mutation_p.A649T|COL6A2_uc002zib.1_Missense_Mutation_p.A55T|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	649	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGTGCCATCGCTAAGGACCC	0.627													A	47545507	G	A	47545507	3	1	281	1	0	0	0	0	1	0	0	0	3700	1087	38	1	2039	1	COL6A2	21	47545507	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	30373407	47545507	584388	282	145161											
ZDHHC8	29801	broad.mit.edu	37	chr22	20126835	20126835	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccctggtgttttccccCgaggtagggccctgtgctgc	14	13	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:20126835C>T	uc002zrq.2	+	2	329	c.223C>T	c.(223-225)CGA>TGA	p.R75*	ZDHHC8_uc002zrr.1_Nonsense_Mutation_p.R75*|ZDHHC8_uc010gsa.2_5'Flank	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	75	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					TGTTTTCCCCCGAGGTAGGGC	0.562													T	20126835	C	T	20126835	4	4	281	1	0	0	0	0	0	1	0	0	17618	644	23	1	229	1	ZDHHC8	22	20126835	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08		20126835	31177731	283	145162											
HPS4	89781	broad.mit.edu	37	chr22	26849268	26849268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggctgaaggcgccatcCtgagggtttgggaagccgga	18	8	0	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:26849268C>T	uc003acl.2	-	14	2717	c.2058G>A	c.(2056-2058)CAG>CAA	p.Q686Q	HPS4_uc003aci.2_Silent_p.Q681Q|HPS4_uc003acj.2_Silent_p.Q550Q|HPS4_uc003ack.2_Silent_p.Q477Q|HPS4_uc003acn.2_Silent_p.Q532Q|HPS4_uc003ach.2_Silent_p.Q421Q	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	686					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						AGGCGCCATCCTGAGGGTTTG	0.592									Hermansky-Pudlak_syndrome				T	26849268	C	T	26849268	2	4	281	1	0	0	0	0	0	0	0	1	7341	680	24	4		4	HPS4	22	26849268	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	6722433	26849268	24455298	284	145163											
CRYBB1	1414	broad.mit.edu	37	chr22	26995521	26995521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgcttgtcacgcaggCgacgcagggactgcatctgt	13	13	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:26995521C>T	uc003acy.1	-	6	762	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	231	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			ovary(1)	1						GTCACGCAGGCGACGCAGGGA	0.627													T	26995521	C	T	26995521	3	4	281	1	0	0	0	0	1	0	0	0	3910	768	27	1	70	1	CRYBB1	22	26995521	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	146253	26995521	24309045	285	145164											
CACNA1I	8911	broad.mit.edu	37	chr22	40045825	40045825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgtgtggcgggagacGcgagccaagctgcgcggcat	20	9	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:40045825G>A	uc003ayc.2	+	10	1887	c.1887G>A	c.(1885-1887)ACG>ACA	p.T629T	CACNA1I_uc003ayd.2_Silent_p.T594T|CACNA1I_uc003aye.2_Silent_p.T544T|CACNA1I_uc003ayf.2_Silent_p.T509T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	629	II.|Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCGGGAGACGCGAGCCAAGC	0.537													A	40045825	G	A	40045825	2	1	281	1	0	0	0	0	0	0	0	1	2546	1074	38	1		1	CACNA1I	22	40045825	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	13050304	40045825	11258741	286	145165											
CHKB	1120	broad.mit.edu	37	chr22	51018797	51018797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctaccttcctggatGtcattgtggcagaagacgac	9	12	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:51018797G>A	uc003bms.2	-	6	944	c.726C>T	c.(724-726)GAC>GAT	p.D242D	CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.D33D|CHKB-CPT1B_uc003bmu.2_Silent_p.D121D|CHKB_uc003bmv.2_Silent_p.D242D|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	242					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		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)	CTTCCTGGATGTCATTGTGGC	0.552													A	51018797	G	A	51018797	2	1	281	1	0	0	0	0	0	0	0	1	3348	1368	48	4		4	CHKB	22	51018797	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	10972972	51018797	285769	287	145166											
PIGA	5277	broad.mit.edu	37	chrX	15342846	15342846	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtctttactatgttatggaTgttttctggagctggcaatg	11	5	2	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:15342846T>A	uc004cwr.2	-	5	1229	c.1129A>T	c.(1129-1131)ATC>TTC	p.I377F	PIGA_uc010neu.2_Intron|PIGA_uc004cwq.2_Missense_Mutation_p.I62F|PIGA_uc010nev.2_Missense_Mutation_p.I208F|PIGA_uc004cws.2_Missense_Mutation_p.I62F|PIGA_uc011miq.1_Missense_Mutation_p.I143F	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	377	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					ATGTTATGGATGTTTTCTGGA	0.383													A	15342846	T	A	15342846	3	1	281	1	0	0	0	0	1	0	0	0	11884	1464	51	5	333	5	PIGA	23	15342846	Missense_Mutation	SNP	T	TCGA-HU-A4H5-01A-21D-A25D-08		15342846	139927714	288	145167											
FAM47B	170062	broad.mit.edu	37	chrX	34962700	34962700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaacccgacattcttgaCggtctttatggaccaattgc	9	10	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:34962700C>T	uc004ddi.1	+	1	1770	c.1752C>T	c.(1750-1752)GAC>GAT	p.D584D		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	584										ovary(3)|breast(1)	4						ACATTCTTGACGGTCTTTATG	0.453													T	34962700	C	T	34962700	2	4	281	1	0	0	0	0	0	0	0	1	5570	535	19	1		1	FAM47B	23	34962700	Silent	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	19619854	34962700	120307860	289	145168											
MAGEB16	139604	broad.mit.edu	37	chrX	35820338	35820338	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggatcaggagagtccaCgatgcacacatgatcagcac	10	12	3	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:35820338C>T	uc010ngt.1	+	2	304	c.25C>T	c.(25-27)CGA>TGA	p.R9*		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	9										lung(3)|ovary(2)|breast(1)|skin(1)	7						GGAGAGTCCACGATGCACACA	0.562													T	35820338	C	T	35820338	4	4	281	1	0	0	0	0	0	1	0	0	9174	528	19	1	27	1	MAGEB16	23	35820338	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	857638	35820338	119450222	290	145169											
TAF1	6872	broad.mit.edu	37	chrX	70618460	70618460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaacaacatcgggaagAgatgcgaaaagaacggcgga	14	6	0	4			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:70618460A>G	uc004dzu.3	+	24	3707	c.3656A>G	c.(3655-3657)GAG>GGG	p.E1219G	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E1240G|TAF1_uc004dzv.3_Missense_Mutation_p.E393G	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1219	HMG box.				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			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CATCGGGAAGAGATGCGAAAA	0.468													G	70618460	A	G	70618460	3	3	281	1	0	0	0	0	1	0	0	0	15510	304	11	3	3813	3	TAF1	23	70618460	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	34798122	70618460	84652100	291	145170											
CDX4	1046	broad.mit.edu	37	chrX	72667553	72667553	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcaggagccgccacaGcccctatgcatggatgcgca	11	17	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:72667553G>C	uc011mqk.1	+	1	464	c.464G>C	c.(463-465)AGC>ACC	p.S155T		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					AGCCGCCACAGCCCCTATGCA	0.622													C	72667553	G	C	72667553	3	2	281	1	0	0	0	0	1	0	0	0	3184	971	34	5	466	5	CDX4	23	72667553	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	2049093	72667553	82603007	292	145171											
DACH2	117154	broad.mit.edu	37	chrX	85969556	85969556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cactgtctcttttaggactgGatctgccatttatgatgatg	9	8	2	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:85969556G>T	uc004eew.2	+	6	1107	c.937G>T	c.(937-939)GAT>TAT	p.D313Y	DACH2_uc004eex.2_Missense_Mutation_p.D300Y|DACH2_uc010nmq.2_Missense_Mutation_p.D179Y|DACH2_uc011mra.1_Missense_Mutation_p.D146Y|DACH2_uc010nmr.2_Missense_Mutation_p.D94Y|DACH2_uc004eey.2_5'UTR|DACH2_uc004eez.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TTTAGGACTGGATCTGCCATT	0.348													T	85969556	G	T	85969556	3	4	281	1	0	0	0	0	1	0	0	0	4221	1174	41	5	959	5	DACH2	23	85969556	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	13302003	85969556	69301004	293	145172											
ZMAT1	84460	broad.mit.edu	37	chrX	101138838	101138838	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtattgttttctgaagagaGgtgcttgtaaacttcagatt	10	4	2	3			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:101138838G>C	uc004eim.2	-	2	4546	c.1048C>G	c.(1048-1050)CTC>GTC	p.L350V	ZMAT1_uc011mrl.1_Missense_Mutation_p.L521V|ZMAT1_uc004ein.2_Missense_Mutation_p.L350V|ZMAT1_uc011mrm.1_Missense_Mutation_p.L350V	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	350						nucleus	zinc ion binding			ovary(1)	1						TCTGAAGAGAGGTGCTTGTAA	0.418													C	101138838	G	C	101138838	3	2	281	1	0	0	0	0	1	0	0	0	17688	1000	35	5	359	5	ZMAT1	23	101138838	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	15169282	101138838	54131722	294	145173											
TCEAL3	85012	broad.mit.edu	37	chrX	102864295	102864295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccgccgaaaagcgcccGgctgaagattatgtgccccg	14	14	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:102864295G>A	uc004ekq.2	+	3	565	c.303G>A	c.(301-303)CCG>CCA	p.P101P	TCEAL3_uc004ekr.2_Silent_p.P101P	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AAAAGCGCCCGGCTGAAGATT	0.612													A	102864295	G	A	102864295	2	1	281	1	0	0	0	0	0	0	0	1	15669	1103	39	1		1	TCEAL3	23	102864295	Silent	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	1725457	102864295	52406265	295	145174											
DOCK11	139818	broad.mit.edu	37	chrX	117744266	117744266	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagagatttcccgagacatAtcatcatgtcttacattcac	5	12	4	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:117744266A>T	uc004eqp.2	+	28	3044	c.2981A>T	c.(2980-2982)TAT>TTT	p.Y994F	DOCK11_uc004eqq.2_Missense_Mutation_p.Y760F	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	994					blood coagulation	cytosol	GTP binding			ovary(3)	3						CCCGAGACATATCATCATGTC	0.403													T	117744266	A	T	117744266	3	4	281	1	0	0	0	0	1	0	0	0	4686	449	16	5	3091	5	DOCK11	23	117744266	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	14879971	117744266	37526294	296	145175											
DDX26B	203522	broad.mit.edu	37	chrX	134711259	134711259	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccacaaacaccacctActgtaactaaccatgtgggc	7	13	0	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:134711259A>T	uc004eyw.3	+	14	2278	c.1915A>T	c.(1915-1917)ACT>TCT	p.T639S	DDX26B_uc004eyx.3_Missense_Mutation_p.T240S	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	639											0	Acute lymphoblastic leukemia(192;6.56e-05)					AACACCACCTACTGTAACTAA	0.483													T	134711259	A	T	134711259	3	4	281	1	0	0	0	0	1	0	0	0	4353	391	14	5	1969	5	DDX26B	23	134711259	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	16966993	134711259	20559301	297	145176											
ARHGEF6	9459	broad.mit.edu	37	chrX	135861601	135861601	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagggttgcacatcctttcAggaagtcattgatgttgttg	13	6	2	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:135861601A>T	uc004fab.2	-	2	683	c.221T>A	c.(220-222)CTG>CAG	p.L74Q		NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	74	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				0	Acute lymphoblastic leukemia(192;0.000127)					ACATCCTTTCAGGAAGTCATT	0.458													T	135861601	A	T	135861601	3	4	281	1	0	0	0	0	1	0	0	0	910	188	7	5	2193	5	ARHGEF6	23	135861601	Missense_Mutation	SNP	A	TCGA-HU-A4H5-01A-21D-A25D-08	1150342	135861601	19408959	298	145177											
SLC10A3	8273	broad.mit.edu	37	chrX	153717161	153717161	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtcccttgggcccccCatggcaggctgatgagcagc	14	14	0	2			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:153717161C>T	uc004flq.2	-	3	383	c.119G>A	c.(118-120)TGG>TAG	p.W40*	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Nonsense_Mutation_p.W40*|SLC10A3_uc004flp.2_Nonsense_Mutation_p.W40*	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	40					organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	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)					TTGGGCCCCCCATGGCAGGCT	0.657													T	153717161	C	T	153717161	4	4	281	1	0	0	0	0	0	1	0	0	14375	595	21	4	1318	4	SLC10A3	23	153717161	Nonsense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	17855560	153717161	1553399	299	145178											
MPP1	4354	broad.mit.edu	37	chrX	154020488	154020488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtcccttgacctgggCagggctacctggggcaggag	15	13	0	1			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:154020488C>T	uc004fmp.1	-	2	290	c.175G>A	c.(175-177)GCC>ACC	p.A59T	MPP1_uc010nvg.1_Missense_Mutation_p.A59T|MPP1_uc011mzv.1_Missense_Mutation_p.A29T|MPP1_uc004fmq.1_Missense_Mutation_p.A13T|MPP1_uc011mzw.1_Missense_Mutation_p.A59T|MPP1_uc010nvh.1_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	59					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)					TTGACCTGGGCAGGGCTACCT	0.542													T	154020488	C	T	154020488	3	4	281	1	0	0	0	0	1	0	0	0	9733	710	25	2	1269	2	MPP1	23	154020488	Missense_Mutation	SNP	C	TCGA-HU-A4H5-01A-21D-A25D-08	303327	154020488	1250072	300	145179											
FUNDC2	65991	broad.mit.edu	37	chrX	154282921	154282921	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taactgggggatttttcggaGgctttctgcttggcatggca	14	7	1	0			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:154282921G>C	uc004fmw.2	+	5	694	c.544G>C	c.(544-546)GGC>CGC	p.G182R		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	182						mitochondrion					0	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTTCGGAGGCTTTCTGCT	0.428													C	154282921	G	C	154282921	3	2	281	1	0	0	0	0	1	0	0	0	6098	1000	35	5	562	5	FUNDC2	23	154282921	Missense_Mutation	SNP	G	TCGA-HU-A4H5-01A-21D-A25D-08	262433	154282921	987639	301	145180											
GPR153	387509	broad.mit.edu	37	chr1	6314738	6314738	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagaccctcattccactcGaagtcggggcgctgccgccg	12	16	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:6314738G>A	uc001amp.1	-	2	488	c.228C>T	c.(226-228)TTC>TTT	p.F76F		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	76	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	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)		CATTCCACTCGAAGTCGGGGC	0.612													A	6314738	G	A	6314738	2	1	282	1	0	0	0	0	0	0	0	1	6659	1049	37	1		1	GPR153	1	6314738	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		6314738	242935883	1	145181											
CLCNKB	1188	broad.mit.edu	37	chr1	16375656	16375656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtcttcccacttctctGtctgggattactggaggggc	11	11	4	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:16375656G>A	uc001axw.3	+	8	777	c.697G>A	c.(697-699)GTC>ATC	p.V233I	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.V233I|CLCNKB_uc001axy.3_Missense_Mutation_p.V64I	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	233					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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)		CCACTTCTCTGTCTGGGATTA	0.632													A	16375656	G	A	16375656	3	1	282	1	0	0	0	0	1	0	0	0	3470	1377	48	4	871	4	CLCNKB	1	16375656	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	10060918	16375656	232874965	2	145182											
PTPRF	5792	broad.mit.edu	37	chr1	44071064	44071064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgcctacatagaggaCggccgcttcgatctctccat	9	15	2	1	rs148630488		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:44071064C>T	uc001cjr.2	+	18	3679	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	PTPRF_uc001cjs.2_Silent_p.D1104D|PTPRF_uc001cju.2_Silent_p.D491D|PTPRF_uc009vwt.2_Silent_p.D673D|PTPRF_uc001cjv.2_Silent_p.D573D|PTPRF_uc001cjw.2_Silent_p.D339D	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1113	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACATAGAGGACGGCCGCTTCG	0.667													T	44071064	C	T	44071064	2	4	282	1	0	0	0	0	0	0	0	1	12801	535	19	1		1	PTPRF	1	44071064	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	27695408	44071064	205179557	3	145183											
CYP4X1	260293	broad.mit.edu	37	chr1	47501734	47501734	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atatttgaactcagcaaaatCatatttcaccgcttgtacag	5	9	3	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:47501734C>T	uc001cqt.2	+	6	916	c.666C>T	c.(664-666)ATC>ATT	p.I222I	CYP4X1_uc001cqr.2_Silent_p.I221I|CYP4X1_uc001cqs.2_Silent_p.I157I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	222						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						TCAGCAAAATCATATTTCACC	0.383													T	47501734	C	T	47501734	2	4	282	1	0	0	0	0	0	0	0	1	4193	816	29	4		4	CYP4X1	1	47501734	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	3430670	47501734	201748887	4	145184											
ASB17	127247	broad.mit.edu	37	chr1	76397900	76397900	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtagggagggtcttttaacaAttttgtcaaggagattgcag	13	4	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:76397900A>T	uc001dhe.1	-	1	217	c.77T>A	c.(76-78)ATT>AAT	p.I26N	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	26					intracellular signal transduction					ovary(1)	1						TCTTTTAACAATTTTGTCAAG	0.378													T	76397900	A	T	76397900	3	4	282	1	0	0	0	0	1	0	0	0	1021	101	4	5	822	5	ASB17	1	76397900	Missense_Mutation	SNP	A	TCGA-HU-A4H6-01A-11D-A25D-08	28896166	76397900	172852721	5	145185											
ATP8B2	57198	broad.mit.edu	37	chr1	154313404	154313404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgcatgaagaagcggaCgcctgcagaagcccgcacca	12	13	1	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:154313404C>T	uc001fex.2	+	13	1208	c.1208C>T	c.(1207-1209)ACG>ATG	p.T403M		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	389	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGAAGCGGACGCCTGCAGAA	0.567													T	154313404	C	T	154313404	3	4	282	1	0	0	0	0	1	0	0	0	1195	536	19	1	1388	1	ATP8B2	1	154313404	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	77915504	154313404	94937217	6	145186											
POGK	57645	broad.mit.edu	37	chr1	166819614	166819614	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaaccaccaaaagatTgtgacaccgaaagcatggct	11	9	0	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:166819614T>A	uc001gdt.1	+	5	1918	c.1798T>A	c.(1798-1800)TGT>AGT	p.C600S	POGK_uc010ple.1_Missense_Mutation_p.C515S|POGK_uc010plf.1_Missense_Mutation_p.C482S	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	600					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						ACCAAAAGATTGTGACACCGA	0.348													A	166819614	T	A	166819614	3	1	282	1	0	0	0	0	1	0	0	0	12185	1812	63	5	1812	5	POGK	1	166819614	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08	12506210	166819614	82431007	7	145187											
GORAB	92344	broad.mit.edu	37	chr1	170508603	170508603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccacagggcattgaaaGtcagccaaaggaactgggac	11	10	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:170508603G>A	uc001gha.2	+	2	416	c.389G>A	c.(388-390)AGT>AAT	p.S130N	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Missense_Mutation_p.S130N|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	130						Golgi apparatus|nucleus					0						GGCATTGAAAGTCAGCCAAAG	0.448													A	170508603	G	A	170508603	3	1	282	1	0	0	0	0	1	0	0	0	6574	1029	36	4	395	4	GORAB	1	170508603	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	3688989	170508603	78742018	8	145188											
FMO3	2328	broad.mit.edu	37	chr1	171083421	171083421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagaagtcaaccatagcaGtgattggctttgtccagtcc	10	9	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:171083421G>A	uc001ghi.2	+	7	1213	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M	FMO3_uc001ghh.2_Missense_Mutation_p.V368M|FMO3_uc010pmb.1_Missense_Mutation_p.V348M|FMO3_uc010pmc.1_Missense_Mutation_p.V305M	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	368					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACCATAGCAGTGATTGGCTT	0.448													A	171083421	G	A	171083421	3	1	282	1	0	0	0	0	1	0	0	0	5956	1029	36	4	1124	4	FMO3	1	171083421	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	574818	171083421	78167200	9	145189											
PTPRC	5788	broad.mit.edu	37	chr1	198721391	198721391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctaggaaatctgtgctcAgtactggggagaaggaaagc	13	6	3	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:198721391A>C	uc001gur.1	+	30	3395	c.3215A>C	c.(3214-3216)CAG>CCG	p.Q1072P	PTPRC_uc001gus.1_Missense_Mutation_p.Q1024P|PTPRC_uc001gut.1_Missense_Mutation_p.Q911P	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1072	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						ATCTGTGCTCAGTACTGGGGA	0.378													C	198721391	A	C	198721391	3	2	282	1	0	0	0	0	1	0	0	0	12797	188	7	5	3340	5	PTPRC	1	198721391	Missense_Mutation	SNP	A	TCGA-HU-A4H6-01A-11D-A25D-08	27637970	198721391	50529230	10	145190											
C1orf124	83932	broad.mit.edu	37	chr1	231488616	231488616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtaacagtcaccaaaatGttctaagcaactactttcct	4	10	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:231488616G>A	uc001hur.2	+	5	1427	c.979G>A	c.(979-981)GTT>ATT	p.V327I	C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	327					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCACCAAAATGTTCTAAGCAA	0.388													A	231488616	G	A	231488616	3	1	282	1	0	0	0	0	1	0	0	0	1992	1377	48	4	1032	4	C1orf124	1	231488616	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	32767225	231488616	17762005	11	145191											
OR2G3	81469	broad.mit.edu	37	chr1	247769302	247769302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtagtcatcatgaacccaCggctttgccaacagctggca	9	12	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr1:247769302C>T	uc010pyz.1	+	1	415	c.415C>T	c.(415-417)CGG>TGG	p.R139W		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)			CATGAACCCACGGCTTTGCCA	0.512													T	247769302	C	T	247769302	3	4	282	1	0	0	0	0	1	0	0	0	10999	527	19	1	417	1	OR2G3	1	247769302	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	16280686	247769302	1481319	12	145192											
BCL11A	53335	broad.mit.edu	37	chr2	60687922	60687922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgcgccccgagatccCtccgtccagctccccgggcg	12	21	0	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:60687922C>T	uc002sae.1	-	4	2353	c.2125G>A	c.(2125-2127)GGG>AGG	p.G709R	BCL11A_uc002sab.2_Missense_Mutation_p.G709R|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.G378R|BCL11A_uc010ypj.1_Missense_Mutation_p.G675R|BCL11A_uc002sad.1_Missense_Mutation_p.G557R|BCL11A_uc002saf.1_Missense_Mutation_p.G675R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	709					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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCGAGATCCCTCCGTCCAGC	0.662			T	IGH@	B-CLL								T	60687922	C	T	60687922	3	4	282	1	0	0	0	0	1	0	0	0	1363	681	24	4	492	4	BCL11A	2	60687922	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08		60687922	182511451	13	145193											
ZAP70	7535	broad.mit.edu	37	chr2	98341619	98341619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagctcattgctacgaCggcccacgagcggatgccct	13	13	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:98341619C>T	uc002syd.1	+	4	674	c.467C>T	c.(466-468)ACG>ATG	p.T156M	ZAP70_uc010yvf.1_Missense_Mutation_p.T156M|ZAP70_uc002sye.1_Missense_Mutation_p.T46M	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	156	Interdomain A.				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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ATTGCTACGACGGCCCACGAG	0.632													T	98341619	C	T	98341619	3	4	282	1	0	0	0	0	1	0	0	0	17511	536	19	1	473	1	ZAP70	2	98341619	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	37653697	98341619	144857754	14	145194											
EN1	2019	broad.mit.edu	37	chr2	119600593	119600593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaggtgcagcgccaggCcgttcttgatgcctgtggct	14	12	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:119600593C>T	uc002tlm.2	-	2	2116	c.1100G>A	c.(1099-1101)GGC>GAC	p.G367D		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	367					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						CAGCGCCAGGCCGTTCTTGAT	0.552													T	119600593	C	T	119600593	3	4	282	1	0	0	0	0	1	0	0	0	5109	739	26	2	82	2	EN1	2	119600593	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	21258974	119600593	123598780	15	145195											
RBMS1	5937	broad.mit.edu	37	chr2	161133833	161133833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaacaggaaccgctgtcGtctgcatatgtgcatactgt	9	12	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:161133833G>A	uc002ubo.2	-	12	1568	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	RBMS1_uc002ubj.2_Missense_Mutation_p.T355M|RBMS1_uc002ubk.2_Missense_Mutation_p.T339M|RBMS1_uc002ubl.2_Missense_Mutation_p.T370M|RBMS1_uc002ubn.2_Missense_Mutation_p.T372M|RBMS1_uc002ubi.3_Missense_Mutation_p.T388M|RBMS1_uc002ubm.2_Missense_Mutation_p.T358M|RBMS1_uc002ubp.2_Missense_Mutation_p.T391M	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	375					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						AACCGCTGTCGTCTGCATATG	0.433													A	161133833	G	A	161133833	3	1	282	1	0	0	0	0	1	0	0	0	13148	1145	40	1	104	1	RBMS1	2	161133833	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	41533240	161133833	82065540	16	145196											
GALNT3	2591	broad.mit.edu	37	chr2	166618440	166618440	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatctaaaaatgtgagcgtTtcagctgttgcgactgttgc	11	8	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:166618440T>A	uc010fph.1	-	4	1200	c.813A>T	c.(811-813)GAA>GAT	p.E271D	GALNT3_uc010fpi.1_Missense_Mutation_p.E271D	NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	271	Catalytic subdomain A.|Lumenal (Potential).				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			central_nervous_system(2)|ovary(1)	3						ATGTGAGCGTTTCAGCTGTTG	0.363													A	166618440	T	A	166618440	3	1	282	1	0	0	0	0	1	0	0	0	6214	1838	64	5	1120	5	GALNT3	2	166618440	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08	5484607	166618440	76580933	17	145197											
SLC39A10	57181	broad.mit.edu	37	chr2	196573489	196573489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgtattgaaaggacTtgttgctctaggaggcattt	12	5	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:196573489T>G	uc002utg.3	+	5	1710	c.1496T>G	c.(1495-1497)CTT>CGT	p.L499R	SLC39A10_uc002uth.3_Missense_Mutation_p.L499R|SLC39A10_uc010zgp.1_Missense_Mutation_p.L49R	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	499	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTGAAAGGACTTGTTGCTCTA	0.348													G	196573489	T	G	196573489	3	3	282	1	0	0	0	0	1	0	0	0	14613	1609	56	5	1510	5	SLC39A10	2	196573489	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08	29955049	196573489	46625884	18	145198											
RFTN2	130132	broad.mit.edu	37	chr2	198540173	198540173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttctagctttctaagtcCgcaccccatggcaaaatctg	7	13	4	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:198540173C>T	uc002uuo.3	-	1	412	c.10G>A	c.(10-12)GGA>AGA	p.G4R		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	4						plasma membrane					0						TTTCTAAGTCCGCACCCCATG	0.418													T	198540173	C	T	198540173	3	4	282	1	0	0	0	0	1	0	0	0	13259	661	23	1	1531	1	RFTN2	2	198540173	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	1966684	198540173	44659200	19	145199											
RNF25	64320	broad.mit.edu	37	chr2	219529554	219529554	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggtagagccgcttgcgttCttcttgctggcgcaagctct	12	12	3	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr2:219529554C>G	uc002vit.2	-	9	797	c.709G>C	c.(709-711)GAA>CAA	p.E237Q	RNF25_uc010fvw.2_Missense_Mutation_p.E125Q	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	237					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTTGCGTTCTTCTTGCTGG	0.552													G	219529554	C	G	219529554	3	3	282	1	0	0	0	0	1	0	0	0	13485	922	32	5	678	5	RNF25	2	219529554	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	20989381	219529554	23669819	20	145200											
ZNF385D	79750	broad.mit.edu	37	chr3	21552505	21552505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcctttgtagtgggccGcagcctggctctacaaagga	13	11	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr3:21552505G>A	uc003cce.2	-	4	695	c.287C>T	c.(286-288)GCG>GTG	p.A96V	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	96	Matrin-type 1.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GTAGTGGGCCGCAGCCTGGCT	0.443													A	21552505	G	A	21552505	3	1	282	1	0	0	0	0	1	0	0	0	17875	1087	38	1	920	1	ZNF385D	3	21552505	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		21552505	176469925	21	145201											
MYD88	4615	broad.mit.edu	37	chr3	38181925	38181925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatctgctattgccccagCgacatccagtttgtgcagga	9	12	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr3:38181925C>T	uc003chx.2	+	3	733	c.549C>T	c.(547-549)AGC>AGT	p.S183S	MYD88_uc011ayh.1_3'UTR|MYD88_uc011ayi.1_Silent_p.S183S|MYD88_uc011ayj.1_Intron|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Silent_p.S138S	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	170	TIR.				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			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATTGCCCCAGCGACATCCAGT	0.562			Mis 		ABC-DLBCL								T	38181925	C	T	38181925	2	4	282	1	0	0	0	0	0	0	0	1	10023	767	27	1		1	MYD88	3	38181925	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	16629420	38181925	159840505	22	145202											
TRAK1	22906	broad.mit.edu	37	chr3	42244190	42244190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttctctggcatgtccTtcagcagccgctcctacctg	9	17	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr3:42244190T>C	uc003cky.2	+	13	1906	c.1690T>C	c.(1690-1692)TTC>CTC	p.F564L	TRAK1_uc011azh.1_Missense_Mutation_p.F564L|TRAK1_uc011azi.1_Missense_Mutation_p.F564L|TRAK1_uc003ckz.3_Missense_Mutation_p.F490L|TRAK1_uc011azj.1_Missense_Mutation_p.F490L|TRAK1_uc003cla.2_Missense_Mutation_p.F506L	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	564					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TGGCATGTCCTTCAGCAGCCG	0.657													C	42244190	T	C	42244190	3	2	282	1	0	0	0	0	1	0	0	0	16446	1609	56	3	1856	3	TRAK1	3	42244190	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08	4062265	42244190	155778240	23	145203											
CDHR4	389118	broad.mit.edu	37	chr3	49836305	49836305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagcagagtgtacagcCgagccccaggtgtgactgtc	16	10	0	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr3:49836305C>T	uc010hkz.2	-	4	458	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	CDHR4_uc003cxp.2_Silent_p.S175S|CDHR4_uc011bcw.1_Missense_Mutation_p.R150Q	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	cadherin-like 29 precursor	150	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						AGTGTACAGCCGAGCCCCAGG	0.632													T	49836305	C	T	49836305	3	4	282	1	0	0	0	0	1	0	0	0	3121	652	23	1	1981	1	CDHR4	3	49836305	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	7592115	49836305	148186125	24	145204											
DNAH1	25981	broad.mit.edu	37	chr3	52404605	52404605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggggacagcagtggccGcaccagtttcagccactggc	13	14	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr3:52404605G>A	uc011bef.1	+	40	6632	c.6371G>A	c.(6370-6372)CGC>CAC	p.R2124H		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2124					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			large_intestine(3)	3				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)		AGCAGTGGCCGCACCAGTTTC	0.597													A	52404605	G	A	52404605	3	1	282	1	0	0	0	0	1	0	0	0	4597	1087	38	1	6525	1	DNAH1	3	52404605	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	2568300	52404605	145617825	25	145205											
HTT	3064	broad.mit.edu	37	chr4	3215685	3215685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactcggtacttccctttagGccctgtcctggcatttgatc	9	13	0	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr4:3215685G>T	uc011bvq.1	+	51	6926	c.6781G>T	c.(6781-6783)GCC>TCC	p.A2261S		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2259					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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCCCTTTAGGCCCTGTCCTG	0.592													T	3215685	G	T	3215685	3	4	282	1	0	0	0	0	1	0	0	0	7457	1217	42	5	6973	5	HTT	4	3215685	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		3215685	187938591	26	145206											
STK32B	55351	broad.mit.edu	37	chr4	5170125	5170125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggttcggaatgttttcCgggagctgcagatcatgcaa	13	7	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr4:5170125C>T	uc003gih.1	+	3	272	c.208C>T	c.(208-210)CGG>TGG	p.R70W	STK32B_uc010ida.1_Missense_Mutation_p.R23W	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	70	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GAATGTTTTCCGGGAGCTGCA	0.537													T	5170125	C	T	5170125	3	4	282	1	0	0	0	0	1	0	0	0	15297	643	23	1	218	1	STK32B	4	5170125	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	1954440	5170125	185984151	27	145207											
PCDH18	54510	broad.mit.edu	37	chr4	138452081	138452081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccattcagcccagaatCcttgtcctgaactctgacca	5	15	3	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr4:138452081C>T	uc003ihe.3	-	1	1549	c.1162G>A	c.(1162-1164)GAT>AAT	p.D388N	PCDH18_uc003ihf.3_Missense_Mutation_p.D381N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.D168N|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	388	Cadherin 4.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					AGCCCAGAATCCTTGTCCTGA	0.348													T	138452081	C	T	138452081	3	4	282	1	0	0	0	0	1	0	0	0	11513	855	30	4	2261	4	PCDH18	4	138452081	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	133281956	138452081	52702195	28	145208											
DMXL1	1657	broad.mit.edu	37	chr5	118500266	118500266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagaactgctgaacatGttgccagccatgcagaaaga	11	8	0	5			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:118500266G>A	uc003ksd.2	+	20	4948	c.4767G>A	c.(4765-4767)ATG>ATA	p.M1589I	DMXL1_uc010jcl.1_Missense_Mutation_p.M1589I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1589										ovary(2)	2		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)		TGCTGAACATGTTGCCAGCCA	0.438													A	118500266	G	A	118500266	3	1	282	1	0	0	0	0	1	0	0	0	4594	1377	48	4	4845	4	DMXL1	5	118500266	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		118500266	62414994	29	145209											
PCDHA2	56146	broad.mit.edu	37	chr5	140174841	140174841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggaggagctgtgcgggCggagcgcggaatgtagcatc	19	9	0	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:140174841C>T	uc003lhd.2	+	1	398	c.292C>T	c.(292-294)CGG>TGG	p.R98W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R98W|PCDHA2_uc011czy.1_Missense_Mutation_p.R98W	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	98	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTGCGGGCGGAGCGCGGA	0.572													T	140174841	C	T	140174841	3	4	282	1	0	0	0	0	1	0	0	0	11524	759	27	1	294	1	PCDHA2	5	140174841	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	21674575	140174841	40740419	30	145210											
PCDHA4	56144	broad.mit.edu	37	chr5	140188818	140188818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcctcctcacgggcGttggtgggcgctgtgggtcc	16	13	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:140188818G>A	uc003lhi.2	+	1	2147	c.2046G>A	c.(2044-2046)GCG>GCA	p.A682A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A682A|PCDHA4_uc011daa.1_Silent_p.A682A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	682	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCACGGGCGTTGGTGGGCG	0.637													A	140188818	G	A	140188818	2	1	282	1	0	0	0	0	0	0	0	1	11526	1132	40	1		1	PCDHA4	5	140188818	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	13977	140188818	40726442	31	145211											
PCDHB15	56121	broad.mit.edu	37	chr5	140626263	140626263	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtttaggattagagacCgagactctggggaaaatgga	13	7	1	2	rs139626656		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:140626263C>T	uc003lje.2	+	1	1117	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	373	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATTAGAGACCGAGACTCTGG	0.413													T	140626263	C	T	140626263	4	4	282	1	0	0	0	0	0	1	0	0	11540	644	23	1	1119	1	PCDHB15	5	140626263	Nonsense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	437445	140626263	40288997	32	145212											
SH3RF2	153769	broad.mit.edu	37	chr5	145439671	145439671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactccgcggccagctccCtcattatggaagacaaagaa	8	14	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:145439671C>T	uc003lnt.2	+	9	2036	c.1798C>T	c.(1798-1800)CTC>TTC	p.L600F	SH3RF2_uc011dbl.1_Missense_Mutation_p.L600F|SH3RF2_uc011dbm.1_Missense_Mutation_p.L85F|SH3RF2_uc003lnu.2_Missense_Mutation_p.L91F|SH3RF2_uc011dbn.1_Missense_Mutation_p.L91F|SH3RF2_uc011dbo.1_Missense_Mutation_p.L57F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	600							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCAGCTCCCTCATTATGGA	0.607													T	145439671	C	T	145439671	3	4	282	1	0	0	0	0	1	0	0	0	14259	681	24	4	1828	4	SH3RF2	5	145439671	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	4813408	145439671	35475589	33	145213											
NDST1	3340	broad.mit.edu	37	chr5	149901309	149901309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgtggcctacggcgtgGgcatcattggcttcttcaag	13	10	3	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:149901309G>A	uc003lsk.3	+	2	995	c.493G>A	c.(493-495)GGC>AGC	p.G165S	NDST1_uc011dcj.1_Missense_Mutation_p.G165S|NDST1_uc003lsl.2_Missense_Mutation_p.G165S	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	165	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACGGCGTGGGCATCATTGG	0.478													A	149901309	G	A	149901309	3	1	282	1	0	0	0	0	1	0	0	0	10255	1232	43	4	495	4	NDST1	5	149901309	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	4461638	149901309	31013951	34	145214											
CYFIP2	26999	broad.mit.edu	37	chr5	156766134	156766134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcatatgacgctggacAgcttcgatgccatgttccga	11	10	0	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:156766134A>G	uc003lwq.2	+	24	2593	c.2455A>G	c.(2455-2457)AGC>GGC	p.S819G	CYFIP2_uc011ddn.1_Missense_Mutation_p.S793G|CYFIP2_uc011ddo.1_Missense_Mutation_p.S623G|CYFIP2_uc003lwr.2_Missense_Mutation_p.S819G|CYFIP2_uc003lws.2_Missense_Mutation_p.S819G|CYFIP2_uc003lwt.2_Missense_Mutation_p.S722G|CYFIP2_uc011ddp.1_Missense_Mutation_p.S553G	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	844					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	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)			GACGCTGGACAGCTTCGATGC	0.552													G	156766134	A	G	156766134	3	3	282	1	0	0	0	0	1	0	0	0	4138	188	7	3	2537	3	CYFIP2	5	156766134	Missense_Mutation	SNP	A	TCGA-HU-A4H6-01A-11D-A25D-08	6864825	156766134	24149126	35	145215											
EBF1	1879	broad.mit.edu	37	chr5	158250237	158250237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagcctccgagccctcCgcccatgcttggaattatta	9	14	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr5:158250237C>T	uc010jip.2	-	8	1027	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	EBF1_uc011ddw.1_Missense_Mutation_p.R109Q|EBF1_uc011ddx.1_Missense_Mutation_p.R242Q|EBF1_uc003lxl.3_Missense_Mutation_p.R219Q	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	242					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.R242Q(1)	HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	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)			CCGAGCCCTCCGCCCATGCTT	0.488			T	HMGA2	lipoma								T	158250237	C	T	158250237	3	4	282	1	0	0	0	0	1	0	0	0	4880	652	23	1	1086	1	EBF1	5	158250237	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	1484103	158250237	22665023	36	145216											
F13A1	2162	broad.mit.edu	37	chr6	6167728	6167728	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggttagcacggtggacTtttgcttggccagaacatcc	13	9	0	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr6:6167728T>G	uc003mwv.2	-	13	1994	c.1871A>C	c.(1870-1872)AAG>ACG	p.K624T	F13A1_uc011dib.1_Missense_Mutation_p.K561T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	624					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACGGTGGACTTTTGCTTGGC	0.507													G	6167728	T	G	6167728	3	3	282	1	0	0	0	0	1	0	0	0	5340	1609	56	5	339	5	F13A1	6	6167728	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08		6167728	164947339	37	145217											
SLC17A3	10786	broad.mit.edu	37	chr6	25850092	25850092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacaatgtgcttaatccGcaagagagcgtcagcaaggc	11	10	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr6:25850092G>A	uc003nfi.3	-	9	1088	c.978C>T	c.(976-978)TGC>TGT	p.C326C	SLC17A3_uc003nfk.3_Silent_p.C404C	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	326	Helical; (Potential).				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				0						TGCTTAATCCGCAAGAGAGCG	0.433													A	25850092	G	A	25850092	2	1	282	1	0	0	0	0	0	0	0	1	14418	1079	38	1		1	SLC17A3	6	25850092	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	19682364	25850092	145264975	38	145218											
OR10C1	442194	broad.mit.edu	37	chr6	29408592	29408592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaaggccagctacgatcCggccactgaccctctggtgt	10	16	1	1	rs150247833	by1000genomes	TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr6:29408592C>T	uc011dlp.1	+	1	800	c.800C>T	c.(799-801)CCG>CTG	p.P267L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCTACGATCCGGCCACTGAC	0.567													T	29408592	C	T	29408592	3	4	282	1	0	0	0	0	1	0	0	0	10898	652	23	1	802	1	OR10C1	6	29408592	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	3558500	29408592	141706475	39	145219											
TREML4	285852	broad.mit.edu	37	chr6	41196170	41196170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagatctgggctggaatggCctggggtggggtccacacct	16	10	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr6:41196170C>A	uc003oqc.2	+	1	109	c.5C>A	c.(4-6)GCC>GAC	p.A2D	TREML4_uc003oqd.2_5'Flank	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid	2						extracellular region				breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTGGAATGGCCTGGGGTGGG	0.602													A	41196170	C	A	41196170	3	1	282	1	0	0	0	0	1	0	0	0	16471	739	26	5	7	5	TREML4	6	41196170	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	11787578	41196170	129918897	40	145220											
LAMA2	3908	broad.mit.edu	37	chr6	129722454	129722454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catactcgatgaagccaaccGtcttgcagatgaaatcaact	7	11	2	3	rs150691000	byFrequency	TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr6:129722454G>A	uc003qbn.2	+	38	5636	c.5531G>A	c.(5530-5532)CGT>CAT	p.R1844H	LAMA2_uc003qbo.2_Missense_Mutation_p.R1844H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1844	Domain II and I.|Potential.				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			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGCCAACCGTCTTGCAGAT	0.403													A	129722454	G	A	129722454	3	1	282	1	0	0	0	0	1	0	0	0	8606	1145	40	1	5681	1	LAMA2	6	129722454	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	88526284	129722454	41392613	41	145221											
SYNE1	23345	broad.mit.edu	37	chr6	152650951	152650951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaatccgcagaaatcagctCcttggcctttgtgaacttct	7	11	2	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr6:152650951C>T	uc010kiw.2	-	78	15471	c.14869G>A	c.(14869-14871)GAG>AAG	p.E4957K	SYNE1_uc003qot.3_Missense_Mutation_p.E4886K|SYNE1_uc003qou.3_Missense_Mutation_p.E4957K|SYNE1_uc010kiz.2_Missense_Mutation_p.E712K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4957	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAATCAGCTCCTTGGCCTTT	0.478										HNSCC(10;0.0054)			T	152650951	C	T	152650951	3	4	282	1	0	0	0	0	1	0	0	0	15442	864	30	4	11873	4	SYNE1	6	152650951	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	22928497	152650951	18464116	42	145222											
WBSCR17	64409	broad.mit.edu	37	chr7	70885982	70885982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacaggacaactttgagGtgcagcggtacgagaactcg	12	9	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr7:70885982G>A	uc003tvy.2	+	5	853	c.853G>A	c.(853-855)GTG>ATG	p.V285M	WBSCR17_uc003tvz.2_Translation_Start_Site	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	285	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAACTTTGAGGTGCAGCGGTA	0.567													A	70885982	G	A	70885982	3	1	282	1	0	0	0	0	1	0	0	0	17261	1261	44	4	871	4	WBSCR17	7	70885982	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		70885982	88252681	43	145223											
SEMA3C	10512	broad.mit.edu	37	chr7	80374379	80374379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatttctgagtggctgaatGcccccatgatgtccttcggg	12	11	1	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr7:80374379G>T	uc003uhj.2	-	18	2649	c.2087C>A	c.(2086-2088)GCA>GAA	p.A696E	SEMA3C_uc011kgw.1_Missense_Mutation_p.A714E	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	696					immune response|response to drug	membrane	receptor activity			ovary(1)	1						GTGGCTGAATGCCCCCATGAT	0.502													T	80374379	G	T	80374379	3	4	282	1	0	0	0	0	1	0	0	0	14026	1319	46	5	172	5	SEMA3C	7	80374379	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	9488397	80374379	78764284	44	145224											
CLCN1	1180	broad.mit.edu	37	chr7	143013337	143013337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggtcacagcagcgtggggGtgaacaaagctggtggggta	18	8	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr7:143013337G>T	uc003wcr.1	+	1	119	c.32G>T	c.(31-33)GGT>GTT	p.G11V	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	11	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CAGCGTGGGGGTGAACAAAGC	0.627													T	143013337	G	T	143013337	3	4	282	1	0	0	0	0	1	0	0	0	3462	1261	44	5	34	5	CLCN1	7	143013337	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	62638958	143013337	16125326	45	145225											
CRYGN	155051	broad.mit.edu	37	chr7	151133409	151133409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggcggaaatgttctccGtgctccaagaccaagcaaaa	9	11	2	1	rs146240466		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr7:151133409G>A	uc003wke.2	-	3	369	c.273C>T	c.(271-273)CAC>CAT	p.H91H	CRYGN_uc003wkf.2_Intron|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_RNA	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	91											0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATGTTCTCCGTGCTCCAAGA	0.547													A	151133409	G	A	151133409	2	1	282	1	0	0	0	0	0	0	0	1	3918	1136	40	1		1	CRYGN	7	151133409	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	8120072	151133409	8005254	46	145226											
DLGAP2	9228	broad.mit.edu	37	chr8	1645408	1645408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtcagcatgaagttcgaCgagctgcagcggctgcggct	15	11	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr8:1645408C>T	uc003wpl.2	+	11	2749	c.2652C>T	c.(2650-2652)GAC>GAT	p.D884D	DLGAP2_uc003wpm.2_Silent_p.D870D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	963					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		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)		TGAAGTTCGACGAGCTGCAGC	0.632													T	1645408	C	T	1645408	2	4	282	1	0	0	0	0	0	0	0	1	4560	535	19	1		1	DLGAP2	8	1645408	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08		1645408	144718614	47	145227											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886059	88886059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcttacacgcagctcGcgagctatacggcaatagtt	10	11	0	0	rs142584363	byFrequency	TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr8:88886059G>A	uc003ydz.2	-	1	238	c.141C>T	c.(139-141)CGC>CGT	p.R47R		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	47										ovary(1)	1						CACGCAGCTCGCGAGCTATAC	0.498													A	88886059	G	A	88886059	2	1	282	1	0	0	0	0	0	0	0	1	4272	1074	38	1		1	DCAF4L2	8	88886059	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	87240651	88886059	57477963	48	145228											
ZNF707	286075	broad.mit.edu	37	chr8	144776021	144776021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacagacgccaagcccaCggctttcccgtgtcaggtgc	12	14	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr8:144776021C>T	uc003yze.3	+	7	752	c.437C>T	c.(436-438)ACG>ATG	p.T146M	ZNF707_uc010mfh.2_Missense_Mutation_p.T146M|ZNF707_uc010mfi.2_Missense_Mutation_p.T146M|ZNF707_uc003yzf.3_Missense_Mutation_p.T146M|ZNF707_uc003yzh.3_Missense_Mutation_p.T73M|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	146					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)			GCCAAGCCCACGGCTTTCCCG	0.647													T	144776021	C	T	144776021	3	4	282	1	0	0	0	0	1	0	0	0	18108	536	19	1	451	1	ZNF707	8	144776021	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	55889962	144776021	1588001	49	145229											
NPR2	4882	broad.mit.edu	37	chr9	35799621	35799621	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctggtacagactgtaTtggtgatcacgtaccgagaa	12	8	1	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr9:35799621T>C	uc003zyd.2	+	3	880	c.880T>C	c.(880-882)TTG>CTG	p.L294L	NPR2_uc010mlb.2_Silent_p.L294L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	294	Extracellular (Potential).				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			ovary(2)|stomach(1)	3	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)	ACAGACTGTATTGGTGATCAC	0.483													C	35799621	T	C	35799621	2	2	282	1	0	0	0	0	0	0	0	1	10595	1490	52	3		3	NPR2	9	35799621	Silent	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08		35799621	105413810	50	145230											
SEMA4D	10507	broad.mit.edu	37	chr9	92002361	92002361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgggtccggtccaccaCgatctgggtgtagttcacat	13	12	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr9:92002361C>T	uc004aqo.1	-	14	1842	c.1270G>A	c.(1270-1272)GTG>ATG	p.V424M	SEMA4D_uc011ltm.1_Missense_Mutation_p.V424M|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.V422M	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	424	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CGGTCCACCACGATCTGGGTG	0.532													T	92002361	C	T	92002361	3	4	282	1	0	0	0	0	1	0	0	0	14034	536	19	1	1908	1	SEMA4D	9	92002361	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	56202740	92002361	49211070	51	145231											
NRP1	8829	broad.mit.edu	37	chr10	33496543	33496543	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccattctgagccccagtccGccatgagtggctctctcggg	11	15	2	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr10:33496543G>T	uc001iwx.3	-	10	2239	c.1716C>A	c.(1714-1716)GGC>GGA	p.G572G	NRP1_uc001iwv.3_Silent_p.G572G|NRP1_uc009xlz.2_Silent_p.G572G|NRP1_uc001iww.3_Silent_p.G391G|NRP1_uc001iwy.3_Silent_p.G572G|NRP1_uc001iwz.2_Silent_p.G572G|NRP1_uc001ixa.2_Silent_p.G572G|NRP1_uc001ixb.1_Silent_p.G572G	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	572	Extracellular (Potential).|F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	GCCCCAGTCCGCCATGAGTGG	0.493													T	33496543	G	T	33496543	2	4	282	1	0	0	0	0	0	0	0	1	10660	1074	38	5		5	NRP1	10	33496543	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		33496543	102038204	52	145232											
C10orf137	26098	broad.mit.edu	37	chr10	127429072	127429072	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattattccagtcaatctggAatgatccctggctcttggca	8	10	3	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr10:127429072A>C	uc001liq.1	+	16	2315	c.2022A>C	c.(2020-2022)GGA>GGC	p.G674G	C10orf137_uc001lin.2_Silent_p.G640G|C10orf137_uc001lio.1_Silent_p.G640G|C10orf137_uc001lip.1_Silent_p.G378G|C10orf137_uc001lir.2_Silent_p.G168G|C10orf137_uc001lis.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCAATCTGGAATGATCCCTG	0.423													C	127429072	A	C	127429072	2	2	282	1	0	0	0	0	0	0	0	1	1594	233	9	5		5	C10orf137	10	127429072	Silent	SNP	A	TCGA-HU-A4H6-01A-11D-A25D-08	93932529	127429072	8105675	53	145233											
DPYSL4	10570	broad.mit.edu	37	chr10	134006210	134006210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcatcaagaccattgaCgcccacggcctgatggtcct	13	13	1	3	rs142922640		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr10:134006210C>T	uc009ybb.2	+	3	331	c.177C>T	c.(175-177)GAC>GAT	p.D59D		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	59					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		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)		AGACCATTGACGCCCACGGCC	0.582													T	134006210	C	T	134006210	2	4	282	1	0	0	0	0	0	0	0	1	4749	535	19	1		1	DPYSL4	10	134006210	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	6577138	134006210	1528537	54	145234											
OR52H1	390067	broad.mit.edu	37	chr11	5566092	5566092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtaggaaacagcaatgAgaatcacatctgagatgacc	11	8	2	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:5566092A>G	uc010qzh.1	-	1	662	c.662T>C	c.(661-663)CTC>CCC	p.L221P	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	221	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAGCAATGAGAATCACATC	0.507													G	5566092	A	G	5566092	3	3	282	1	0	0	0	0	1	0	0	0	11119	304	11	3	303	3	OR52H1	11	5566092	Missense_Mutation	SNP	A	TCGA-HU-A4H6-01A-11D-A25D-08		5566092	129440424	55	145235											
AHNAK	79026	broad.mit.edu	37	chr11	62290003	62290003	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccttgggtcctgagacGtcaaggtcagccttgggcag	13	12	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:62290003G>A	uc001ntl.2	-	5	12186	c.11886C>T	c.(11884-11886)GAC>GAT	p.D3962D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3962					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GTCCTGAGACGTCAAGGTCAG	0.483													A	62290003	G	A	62290003	2	1	282	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62290003	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	56723911	62290003	72716513	56	145236											
SLC29A2	3177	broad.mit.edu	37	chr11	66133938	66133938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactgaaggttttcctggCttctggggctcatctggctc	12	10	3	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:66133938C>T	uc001oht.2	-	8	1060	c.831G>A	c.(829-831)AAG>AAA	p.K277K	SLC29A2_uc001ohs.2_Silent_p.K157K|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.K157K|SLC29A2_uc001ohu.2_Silent_p.K277K|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	277					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						GTTTTCCTGGCTTCTGGGGCT	0.512													T	66133938	C	T	66133938	2	4	282	1	0	0	0	0	0	0	0	1	14535	796	28	2		2	SLC29A2	11	66133938	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	3843935	66133938	68872578	57	145237											
CTSC	1075	broad.mit.edu	37	chr11	88027276	88027276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattctcaccccagccggtGccccagctgtttttaacaat	6	16	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:88027276G>A	uc001pck.3	-	7	1391	c.1290C>T	c.(1288-1290)GGC>GGT	p.G430G	CTSC_uc001pcl.3_Silent_p.G282G	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	430					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCAGCCGGTGCCCCAGCTGT	0.507													A	88027276	G	A	88027276	2	1	282	1	0	0	0	0	0	0	0	1	4031	1306	46	2		2	CTSC	11	88027276	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	21893338	88027276	46979240	58	145238											
MTNR1B	4544	broad.mit.edu	37	chr11	92714934	92714934	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgtggggtccctggAgtacgacccacgcatctatt	10	12	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:92714934A>C	uc001pdk.1	+	2	648	c.545A>C	c.(544-546)GAG>GCG	p.E182A		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	182	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GGGTCCCTGGAGTACGACCCA	0.612													C	92714934	A	C	92714934	3	2	282	1	0	0	0	0	1	0	0	0	9952	304	11	5	551	5	MTNR1B	11	92714934	Missense_Mutation	SNP	A	TCGA-HU-A4H6-01A-11D-A25D-08	4687658	92714934	42291582	59	145239											
ANGPTL5	253935	broad.mit.edu	37	chr11	101762246	101762246	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	attgaccaggcatgcagggcGacacccatcattatcaacat	8	12	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:101762246G>C	uc001pgl.2	-	9	1527	c.931C>G	c.(931-933)CGC>GGC	p.R311G		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	311	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CATGCAGGGCGACACCCATCA	0.438													C	101762246	G	C	101762246	3	2	282	1	0	0	0	0	1	0	0	0	617	1058	37	5	239	5	ANGPTL5	11	101762246	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	9047312	101762246	33244270	60	145240											
APOA1	335	broad.mit.edu	37	chr11	116706562	116706562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttagtgtactcctcgagagCgctcaggaagctgaccttga	11	11	1	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:116706562C>A	uc001ppu.1	-	4	845	c.766G>T	c.(766-768)GCT>TCT	p.A256S	APOA1_uc001ppv.1_Missense_Mutation_p.A256S	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	256	10.|10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCTCGAGAGCGCTCAGGAAG	0.632													A	116706562	C	A	116706562	3	1	282	1	0	0	0	0	1	0	0	0	780	768	27	5	41	5	APOA1	11	116706562	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	14944316	116706562	18299954	61	145241											
ARCN1	372	broad.mit.edu	37	chr11	118452182	118452182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactaccaaaaacagcaaCattttagaagatttggagac	6	8	1	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr11:118452182C>T	uc001ptq.2	+	2	386	c.225C>T	c.(223-225)AAC>AAT	p.N75N	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Silent_p.N116N	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	75					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	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)		AAAACAGCAACATTTTAGAAG	0.368													T	118452182	C	T	118452182	2	4	282	1	0	0	0	0	0	0	0	1	842	477	17	4		4	ARCN1	11	118452182	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	1745620	118452182	16554334	62	145242											
ADIPOR2	79602	broad.mit.edu	37	chr12	1882101	1882101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacaagcccatcatgctatgGaaaaaatggaagaatttgtt	8	6	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr12:1882101G>A	uc001qjm.2	+	3	462	c.265G>A	c.(265-267)GAA>AAA	p.E89K	ADIPOR2_uc001qjn.2_Missense_Mutation_p.E89K	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	89	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TCATGCTATGGAAAAAATGGA	0.413													A	1882101	G	A	1882101	3	1	282	1	0	0	0	0	1	0	0	0	319	1175	41	4	271	4	ADIPOR2	12	1882101	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		1882101	131969794	63	145243											
PTPRR	5801	broad.mit.edu	37	chr12	71158529	71158529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatccgaagcaaggttatGttcagcttgtttacatccat	8	8	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr12:71158529G>A	uc001swi.1	-	3	803	c.387C>T	c.(385-387)AAC>AAT	p.N129N	PTPRR_uc010stq.1_Silent_p.N17N	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	129	Extracellular (Potential).				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			skin(2)|ovary(1)	3			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)		GCAAGGTTATGTTCAGCTTGT	0.378													A	71158529	G	A	71158529	2	1	282	1	0	0	0	0	0	0	0	1	12810	1368	48	4		4	PTPRR	12	71158529	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	69276428	71158529	62693366	64	145244											
NAV3	89795	broad.mit.edu	37	chr12	78400648	78400648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcagtcccaaagtgtcaCctaagttggcccctccaaaa	7	13	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr12:78400648C>T	uc001syp.2	+	8	1503	c.1330C>T	c.(1330-1332)CCT>TCT	p.P444S	NAV3_uc001syo.2_Missense_Mutation_p.P444S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	444						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAAAGTGTCACCTAAGTTGGC	0.408										HNSCC(70;0.22)			T	78400648	C	T	78400648	3	4	282	1	0	0	0	0	1	0	0	0	10185	507	18	4	1360	4	NAV3	12	78400648	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	7242119	78400648	55451247	65	145245											
DAO	1610	broad.mit.edu	37	chr12	109293196	109293196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggcttccggccagtacGcccccagattcggctagaaa	10	14	0	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr12:109293196G>A	uc001tnr.3	+	10	1010	c.857G>A	c.(856-858)CGC>CAC	p.R286H	DAO_uc001tnq.3_Missense_Mutation_p.R220H|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	286					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						CGGCCAGTACGCCCCCAGATT	0.468													A	109293196	G	A	109293196	3	1	282	1	0	0	0	0	1	0	0	0	4231	1087	38	1	891	1	DAO	12	109293196	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	30892548	109293196	24558699	66	145246											
PDS5B	23047	broad.mit.edu	37	chr13	33261280	33261280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttttaagtggagagtaCgcaaagaagccatgatggga	13	4	0	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr13:33261280C>T	uc010abf.2	+	12	1371	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	PDS5B_uc001uuo.2_Missense_Mutation_p.R405C|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_Missense_Mutation_p.R107C	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	405	HEAT.				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		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)		GTGGAGAGTACGCAAAGAAGC	0.333													T	33261280	C	T	33261280	3	4	282	1	0	0	0	0	1	0	0	0	11692	536	19	1	1255	1	PDS5B	13	33261280	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08		33261280	81908598	67	145247											
NBEA	26960	broad.mit.edu	37	chr13	36167537	36167537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcgaaccttctcatccGttgcaaggtcttggagaact	9	11	2	2	rs116439886	by1000genomes	TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr13:36167537G>A	uc001uvb.2	+	47	7455	c.7249G>A	c.(7249-7251)GTT>ATT	p.V2417I	NBEA_uc010abi.2_Missense_Mutation_p.V1073I|NBEA_uc010tee.1_Missense_Mutation_p.V210I|NBEA_uc010tef.1_Missense_Mutation_p.V210I|NBEA_uc010teg.1_Missense_Mutation_p.V210I|NBEA_uc001uvd.2_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2417	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		CTTCTCATCCGTTGCAAGGTC	0.338													A	36167537	G	A	36167537	3	1	282	1	0	0	0	0	1	0	0	0	10187	1145	40	1	7435	1	NBEA	13	36167537	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	2906257	36167537	79002341	68	145248											
DCLK1	9201	broad.mit.edu	37	chr13	36402445	36402445	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catactctctagcagtcgatCtgcgaagagaaagttcatgt	9	9	3	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr13:36402445C>T	uc001uvf.2	-	9	1463	c.1230_splice	c.e9-1	p.R410_splice	DCLK1_uc001uve.3_Splice_Site_p.R103_splice|DCLK1_uc010teh.1_Splice_Site_p.R103_splice|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1						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			stomach(6)|ovary(2)|skin(1)	9		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)		AGCAGTCGATCTGCGAAGAGA	0.323													T	36402445	C	T	36402445	5	4	282	1	0	0	0	0	0	0	1	0	4291	927	32	4	1000	4	DCLK1	13	36402445	Splice_Site	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	234908	36402445	78767433	69	145249											
FRMD6	122786	broad.mit.edu	37	chr14	52174910	52174910	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatatcaaagaggctgtcCgactggatgacgtcgctgtt	11	8	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr14:52174910C>T	uc001wzd.2	+	7	958	c.673C>T	c.(673-675)CGA>TGA	p.R225*	FRMD6_uc001wzb.2_Nonsense_Mutation_p.R217*|FRMD6_uc001wzc.2_Nonsense_Mutation_p.R217*|FRMD6_uc001wze.2_Nonsense_Mutation_p.R148*	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	225	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAGGCTGTCCGACTGGATGA	0.408													T	52174910	C	T	52174910	4	4	282	1	0	0	0	0	0	1	0	0	6054	644	23	1	671	1	FRMD6	14	52174910	Nonsense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08		52174910	55174630	70	145250											
RPAP1	26015	broad.mit.edu	37	chr15	41813089	41813089	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggaagggccagtcggTgggcagcagcggctccgtag	19	10	0	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr15:41813089T>A	uc001zod.2	-	22	3419	c.3295A>T	c.(3295-3297)ACC>TCC	p.T1099S	RPAP1_uc001zoc.2_Missense_Mutation_p.T118S	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1099	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCCAGTCGGTGGGCAGCAGC	0.667													A	41813089	T	A	41813089	3	1	282	1	0	0	0	0	1	0	0	0	13541	1696	59	5	902	5	RPAP1	15	41813089	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08		41813089	60718303	71	145251											
CACNA1H	8912	broad.mit.edu	37	chr16	1259298	1259298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggccggccgccctcccGcctaccaagtgccgcgatcg	12	20	0	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr16:1259298G>A	uc002cks.2	+	17	3878	c.3630G>A	c.(3628-3630)CCG>CCA	p.P1210P	CACNA1H_uc002ckt.2_Silent_p.P1210P|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1210	Cytoplasmic (Potential).				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(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCGCCCTCCCGCCTACCAAGT	0.746													A	1259298	G	A	1259298	2	1	282	1	0	0	0	0	0	0	0	1	2545	1074	38	1		1	CACNA1H	16	1259298	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		1259298	89095455	72	145252											
ABCA3	21	broad.mit.edu	37	chr16	2331217	2331217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggggcacccgctgctcGtacacctgcaggcacccaac	12	16	0	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr16:2331217G>A	uc002cpy.1	-	28	4882	c.4170C>T	c.(4168-4170)TAC>TAT	p.Y1390Y	ABCA3_uc010bsk.1_Silent_p.Y1332Y	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1390	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CCCGCTGCTCGTACACCTGCA	0.642													A	2331217	G	A	2331217	2	1	282	1	0	0	0	0	0	0	0	1	33	1140	40	1		1	ABCA3	16	2331217	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	1071919	2331217	88023536	73	145253											
MYH11	4629	broad.mit.edu	37	chr16	15931818	15931818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgtagcacggaggcttCgttgaggcacgtcagctccg	15	10	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr16:15931818C>T	uc002ddy.2	-	2	399	c.292G>A	c.(292-294)GAA>AAA	p.E98K	MYH11_uc002ddv.2_Missense_Mutation_p.E98K|MYH11_uc002ddw.2_Missense_Mutation_p.E98K|MYH11_uc002ddx.2_Missense_Mutation_p.E98K|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.E98K	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	98	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			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						ACGGAGGCTTCGTTGAGGCAC	0.532			T	CBFB	AML								T	15931818	C	T	15931818	3	4	282	1	0	0	0	0	1	0	0	0	10031	893	31	1	5846	1	MYH11	16	15931818	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	13600601	15931818	74422935	74	145254											
PPP4C	5531	broad.mit.edu	37	chr16	30096288	30096288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccatcttggagctggacGagcatctccagaaagatttc	10	11	2	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr16:30096288G>A	uc002dwe.2	+	9	973	c.829G>A	c.(829-831)GAG>AAG	p.E277K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.E277K|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.E198K	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	277				E->K: Abolishes interaction with PPP4R4; no effect on interaction with PPP4R1 and PPP4R2.	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			skin(1)	1						GGAGCTGGACGAGCATCTCCA	0.632													A	30096288	G	A	30096288	3	1	282	1	0	0	0	0	1	0	0	0	12402	1059	37	1	859	1	PPP4C	16	30096288	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	14164470	30096288	60258465	75	145255											
NOB1	28987	broad.mit.edu	37	chr16	69782198	69782198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcagcatgccgttcaccGccagcacgtgcagccccatc	9	17	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr16:69782198G>A	uc002exs.2	-	7	777	c.761C>T	c.(760-762)GCG>GTG	p.A254V		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	254						nucleus	metal ion binding|protein binding				0						GCCGTTCACCGCCAGCACGTG	0.488													A	69782198	G	A	69782198	3	1	282	1	0	0	0	0	1	0	0	0	10511	1087	38	1	489	1	NOB1	16	69782198	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	39685910	69782198	20572555	76	145256											
MYH2	4620	broad.mit.edu	37	chr17	10424716	10424716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatgctggagcttgcGgaatttagctagattggtgt	13	7	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr17:10424716G>A	uc010coi.2	-	40	5835	c.5707C>T	c.(5707-5709)CGC>TGC	p.R1903C	uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1903C|MYH2_uc010coj.2_Missense_Mutation_p.R670C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1903	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TGGAGCTTGCGGAATTTAGCT	0.473													A	10424716	G	A	10424716	3	1	282	1	0	0	0	0	1	0	0	0	10035	1116	39	1	122	1	MYH2	17	10424716	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		10424716	70770494	77	145257											
GPR179	440435	broad.mit.edu	37	chr17	36486359	36486359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctactgcaacagagagggcCctccagagcctggctcgagc	12	14	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr17:36486359C>T	uc002hpz.2	-	11	3114	c.3093G>A	c.(3091-3093)AGG>AGA	p.R1031R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1031	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGAGAGGGCCCTCCAGAGCC	0.597													T	36486359	C	T	36486359	2	4	282	1	0	0	0	0	0	0	0	1	6674	622	22	4		4	GPR179	17	36486359	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	26061643	36486359	44708851	78	145258											
C1QL1	10882	broad.mit.edu	37	chr17	43044868	43044868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactggtgccgtcgccgccGcgcatgaggacatggtaggt	15	11	0	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr17:43044868G>A	uc002ihv.2	-	1	777	c.549C>T	c.(547-549)CGC>CGT	p.R183R		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	183	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				CGTCGCCGCCGCGCATGAGGA	0.642													A	43044868	G	A	43044868	2	1	282	1	0	0	0	0	0	0	0	1	1958	1074	38	1		1	C1QL1	17	43044868	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	6558509	43044868	38150342	79	145259											
RSAD1	55316	broad.mit.edu	37	chr17	48559708	48559708	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcccaggtgcagcggggtgCccttccagcccctgacccgg	14	18	0	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr17:48559708C>G	uc002iqw.1	+	4	787	c.731C>G	c.(730-732)GCC>GGC	p.A244G	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	244					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGCGGGGTGCCCTTCCAGCC	0.647											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	48559708	C	G	48559708	3	3	282	1	0	0	0	0	1	0	0	0	13694	739	26	5	745	5	RSAD1	17	48559708	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	5514840	48559708	32635502	80	145260											
C19orf35	374872	broad.mit.edu	37	chr19	2280863	2280863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaccaaggttgctatacGtgggctgagtcgaccaggtg	14	9	0	1	rs141253643		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:2280863G>A	uc002lvn.2	-	2	168	c.68C>T	c.(67-69)ACG>ATG	p.T23M	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	23										pancreas(1)	1				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)		GTTGCTATACGTGGGCTGAGT	0.507													A	2280863	G	A	2280863	3	1	282	1	0	0	0	0	1	0	0	0	1920	1145	40	1	1365	1	C19orf35	19	2280863	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08		2280863	56848120	81	145261											
MUC16	94025	broad.mit.edu	37	chr19	9090314	9090314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggatgtcagagctccCgtgggcagctgtgctggaac	14	12	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:9090314C>T	uc002mkp.2	-	1	1705	c.1501G>A	c.(1501-1503)GGG>AGG	p.G501R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	501	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCAGAGCTCCCGTGGGCAGCT	0.547													T	9090314	C	T	9090314	3	4	282	1	0	0	0	0	1	0	0	0	9973	652	23	1	42358	1	MUC16	19	9090314	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	6809451	9090314	50038669	82	145262											
ZNF506	440515	broad.mit.edu	37	chr19	19905748	19905748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaagctttgccacattcCtcacatttgtagggtttctc	6	10	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:19905748C>A	uc010eci.2	-	4	1096	c.948G>T	c.(946-948)GAG>GAT	p.E316D	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.E284D	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	316	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						TGCCACATTCCTCACATTTGT	0.378													A	19905748	C	A	19905748	3	1	282	1	0	0	0	0	1	0	0	0	17949	680	24	5	390	5	ZNF506	19	19905748	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	10815434	19905748	39223235	83	145263											
ZNF43	7594	broad.mit.edu	37	chr19	21991525	21991525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtttagtaagggttgaGggccagttaaaggctttgcc	13	5	0	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:21991525G>A	uc002nqj.2	-	4	1444	c.1314C>T	c.(1312-1314)CCC>CCT	p.P438P	ZNF43_uc010ecv.2_Silent_p.P432P|ZNF43_uc002nql.2_Silent_p.P432P|ZNF43_uc002nqm.2_Silent_p.P432P|ZNF43_uc002nqk.2_Silent_p.P368P	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	438	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAAGGGTTGAGGGCCAGTTAA	0.393													A	21991525	G	A	21991525	2	1	282	1	0	0	0	0	0	0	0	1	17900	987	35	4		4	ZNF43	19	21991525	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	2085777	21991525	37137458	84	145264											
C19orf2	8725	broad.mit.edu	37	chr19	30505944	30505944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaagagggtttcaaagTttaaagctgccagattgcaa	11	6	1	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:30505944T>C	uc002nsr.2	+	11	1606	c.1576T>C	c.(1576-1578)TTT>CTT	p.F526L	C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.F486L|C19orf2_uc002nst.2_Missense_Mutation_p.F450L	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	526					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		GGTTTCAAAGTTTAAAGCTGC	0.433													C	30505944	T	C	30505944	3	2	282	1	0	0	0	0	1	0	0	0	1911	1725	60	3	1618	3	C19orf2	19	30505944	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08	8514419	30505944	28623039	85	145265											
ZNF585A	199704	broad.mit.edu	37	chr19	37647180	37647180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcacatcccggtacagGtttctctgagaagggtccag	11	11	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:37647180G>A	uc002ofo.1	-	3	381	c.150C>T	c.(148-150)AAC>AAT	p.N50N	ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCGGTACAGGTTTCTCTGAG	0.512													A	37647180	G	A	37647180	2	1	282	1	0	0	0	0	0	0	0	1	18014	1276	44	4		4	ZNF585A	19	37647180	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	7141236	37647180	21481803	86	145266											
RYR1	6261	broad.mit.edu	37	chr19	38956931	38956931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcggctggtgccctaccGcctgctggatgaagccacca	11	17	0	1	rs148146893		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:38956931G>A	uc002oit.2	+	24	3201	c.3071G>A	c.(3070-3072)CGC>CAC	p.R1024H	RYR1_uc002oiu.2_Missense_Mutation_p.R1024H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1024	6 X approximate repeats.|2.|Cytoplasmic.|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			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGCCCTACCGCCTGCTGGAT	0.687													A	38956931	G	A	38956931	3	1	282	1	0	0	0	0	1	0	0	0	13768	1087	38	1	3165	1	RYR1	19	38956931	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	1309751	38956931	20172052	87	145267											
PSG4	5672	broad.mit.edu	37	chr19	43708213	43708213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatatataattctttgaccGtctactacatatgatgtaat	4	8	2	2	rs77454946	by1000genomes	TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:43708213G>A	uc002ovy.2	-	2	357	c.255C>T	c.(253-255)GAC>GAT	p.D85D	PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.D85D|PSG4_uc002ovz.2_Silent_p.D85D	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	85	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)				TTCTTTGACCGTCTACTACAT	0.423													A	43708213	G	A	43708213	2	1	282	1	0	0	0	0	0	0	0	1	12657	1136	40	1		1	PSG4	19	43708213	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	4751282	43708213	15420770	88	145268											
HRC	3270	broad.mit.edu	37	chr19	49655303	49655303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcgggcagagatagcAgaactgacagtgctggaggc	16	9	0	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:49655303A>G	uc002pmv.2	-	4	2171	c.1984T>C	c.(1984-1986)TGC>CGC	p.C662R		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	662	Metal-binding (Potential).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		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)		CAGAGATAGCAGAACTGACAG	0.682													G	49655303	A	G	49655303	3	3	282	1	0	0	0	0	1	0	0	0	7352	188	7	3	127	3	HRC	19	49655303	Missense_Mutation	SNP	A	TCGA-HU-A4H6-01A-11D-A25D-08	5947090	49655303	9473680	89	145269											
LAIR1	3903	broad.mit.edu	37	chr19	54868000	54868001	+	Frame_Shift_Ins	INS	-	-	G													gctcctcgtccttgcttctgINSgggggccctaaggacagtcg							TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:54867999_54868000T>TG	uc002qfk.1	-	6	901_902	c.591_592A>CA	c.(589-594)cccagafs	p.P197fs	LAIR1_uc002qfl.1_Frame_Shift_Ins_p.P180fs|LAIR1_uc002qfm.1_Frame_Shift_Ins_p.P196fs|LAIR1_uc002qfn.1_Frame_Shift_Ins_p.P179fs|LAIR1_uc010yex.2_Frame_Shift_Ins_p.P190fs|LAIR1_uc002qfo.3_Frame_Shift_Ins_p.P179fs	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	197						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)		TCCTTGCTTCTGGGGGGCCCTA	0.634													G	54868001	-	G	54868000	7	5	282	1	0	1	1	0	0	0	0	0	8602	1335	47	0	288	0	LAIR1	19	54868000	Frame_Shift_Ins	INS	-	TCGA-HU-A4H6-01A-11D-A25D-08	5212697	54868000	4260983	90	145270											
ZNF784	147808	broad.mit.edu	37	chr19	56133315	56133315	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaggagttgttgaaggtgcgGtcgcagagcgtgcagcggaa	19	6	0	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr19:56133315G>C	uc002qll.1	-	2	788	c.774C>G	c.(772-774)GAC>GAG	p.D258E	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	258	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGAAGGTGCGGTCGCAGAGCG	0.682													C	56133315	G	C	56133315	3	2	282	1	0	0	0	0	1	0	0	0	18153	1252	44	5	201	5	ZNF784	19	56133315	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	1265315	56133315	2995668	91	145271											
SCRT2	85508	broad.mit.edu	37	chr20	644735	644735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcttgtggcggctcaggttCgacgacgtggcgtaggtctt	16	9	2	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr20:644735C>T	uc002wec.2	-	2	1082	c.504G>A	c.(502-504)TCG>TCA	p.S168S	SRXN1_uc002web.2_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	scratch 2 protein	168	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCTCAGGTTCGACGACGTGG	0.517													T	644735	C	T	644735	2	4	282	1	0	0	0	0	0	0	0	1	13942	871	31	1		1	SCRT2	20	644735	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08		644735	62380785	92	145272											
XKR7	343702	broad.mit.edu	37	chr20	30584971	30584971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggactacaggtgctgagcGggatggggcctcggcgggag	20	8	0	1	rs147437006		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr20:30584971G>A	uc002wxe.2	+	3	1625	c.1451G>A	c.(1450-1452)CGG>CAG	p.R484Q		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	484						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGTGCTGAGCGGGATGGGGCC	0.692													A	30584971	G	A	30584971	3	1	282	1	0	0	0	0	1	0	0	0	17433	1116	39	1	1461	1	XKR7	20	30584971	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	29940236	30584971	32440549	93	145273											
ZNF295	49854	broad.mit.edu	37	chr21	43411786	43411786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgggcaaagaaaagttttCggtgggtgccatgttgttct	13	6	1	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr21:43411786C>T	uc002zab.3	-	3	2633	c.2419G>A	c.(2419-2421)GAA>AAA	p.E807K	ZNF295_uc002yzz.3_Missense_Mutation_p.E606K|ZNF295_uc002yzy.3_Missense_Mutation_p.E807K|ZNF295_uc002zaa.3_Missense_Mutation_p.E807K	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	807					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GAAAAGTTTTCGGTGGGTGCC	0.517													T	43411786	C	T	43411786	3	4	282	1	0	0	0	0	1	0	0	0	17824	893	31	1	785	1	ZNF295	21	43411786	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08		43411786	4718109	94	145274											
CCT8L2	150160	broad.mit.edu	37	chr22	17071982	17071982	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccccttcctgggccacatTtattatcccttcagttccca	4	17	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr22:17071982T>G	uc002zlp.1	-	1	1719	c.1459A>C	c.(1459-1461)AAT>CAT	p.N487H		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	487					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	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)				TGGGCCACATTTATTATCCCT	0.512													G	17071982	T	G	17071982	3	3	282	1	0	0	0	0	1	0	0	0	2961	1841	64	5	218	5	CCT8L2	22	17071982	Missense_Mutation	SNP	T	TCGA-HU-A4H6-01A-11D-A25D-08		17071982	34232584	95	145275											
THOC5	8563	broad.mit.edu	37	chr22	29924124	29924124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcagcatctccttgcGtttgtcgtccaactgaaccc	6	16	3	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr22:29924124G>A	uc003afr.2	-	12	1344	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	THOC5_uc003afq.2_Translation_Start_Site|THOC5_uc003afs.2_Missense_Mutation_p.R337C|THOC5_uc003aft.2_Missense_Mutation_p.R337C|THOC5_uc003afu.2_Missense_Mutation_p.R337C|THOC5_uc010gvo.2_Missense_Mutation_p.R81C	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	337					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						ATCTCCTTGCGTTTGTCGTCC	0.527													A	29924124	G	A	29924124	3	1	282	1	0	0	0	0	1	0	0	0	15865	1145	40	1	1082	1	THOC5	22	29924124	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	12852142	29924124	21380442	96	145276											
CACNG2	10369	broad.mit.edu	37	chr22	36962410	36962410	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctgttacctgcagacacGaagaagatgccggcactcag	12	11	1	3			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr22:36962410G>A	uc003aps.1	-	3	708	c.426C>T	c.(424-426)TTC>TTT	p.F142F		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	142	Helical; (Potential).				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				0						CTGCAGACACGAAGAAGATGC	0.577													A	36962410	G	A	36962410	2	1	282	1	0	0	0	0	0	0	0	1	2557	1049	37	1		1	CACNG2	22	36962410	Silent	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	7038286	36962410	14342156	97	145277											
SELO	83642	broad.mit.edu	37	chr22	50648639	50648639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacggcgcggatggtggcCgagtggcagtgtgtgggctt	20	9	0	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chr22:50648639C>T	uc011arr.1	+	4	1027	c.969C>T	c.(967-969)GCC>GCT	p.A323A	SELO_uc010hap.2_Silent_p.A134A|SELO_uc003bjy.2_Silent_p.A3A|SELO_uc003bjz.2_Silent_p.A3A	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	323											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GGATGGTGGCCGAGTGGCAGT	0.657											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50648639	C	T	50648639	2	4	282	1	0	0	0	0	0	0	0	1	14018	639	23	1		1	SELO	22	50648639	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	13686229	50648639	655927	98	145278											
VCX	26609	broad.mit.edu	37	chrX	7811739	7811739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcgaggggacccagcaCgaccccctgagtcaggaggc	16	13	1	2	rs151212725		TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chrX:7811739C>T	uc004crz.2	+	3	522	c.303C>T	c.(301-303)CAC>CAT	p.H101H		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	variable charge, X chromosome	101	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding				0		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGACCCAGCACGACCCCCTGA	0.682													T	7811739	C	T	7811739	2	4	282	1	0	0	0	0	0	0	0	1	17139	535	19	1		1	VCX	23	7811739	Silent	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08		7811739	147458821	99	145279											
ACRC	93953	broad.mit.edu	37	chrX	70823670	70823670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcggaagctcccgacgaCaatagtgatgattcggatgt	12	8	0	2			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chrX:70823670C>A	uc004eae.2	+	8	1044	c.543C>A	c.(541-543)GAC>GAA	p.D181E	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	181	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					CTCCCGACGACAATAGTGATG	0.498													A	70823670	C	A	70823670	3	1	282	1	0	0	0	0	1	0	0	0	171	477	17	5	569	5	ACRC	23	70823670	Missense_Mutation	SNP	C	TCGA-HU-A4H6-01A-11D-A25D-08	63011931	70823670	84446890	100	145280											
RGAG4	340526	broad.mit.edu	37	chrX	71349770	71349770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgtcttcgaacttggcGttgtcctaaacgacctgtgc	13	11	1	0			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chrX:71349770G>A	uc010nlh.1	-	1	1982	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	541										ovary(2)|skin(1)	3	Renal(35;0.156)					CGAACTTGGCGTTGTCCTAAA	0.597													A	71349770	G	A	71349770	3	1	282	1	0	0	0	0	1	0	0	0	13275	1145	40	1	92	1	RGAG4	23	71349770	Missense_Mutation	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	526100	71349770	83920790	101	145281											
IL9R	3581	broad.mit.edu	37	chrX	155227302	155227302	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcctgtgtgaacctgtcGtgcaaagctcacgtcaccaa	11	13	2	1			TCGA-HU-A4H6-01A-11D-A25D-08	TCGA-HU-A4H6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ea56632-805f-4c0e-a396-ed3c34ae3628	13caa5d8-ddfe-43eb-91b6-cf308ef7c28f	g.chrX:155227302G>A	uc004fnv.1	+	1	57	c.-122G>A	c.(-124--120)TCGTG>TCATG		IL9R_uc010nvn.2_Translation_Start_Site|IL9R_uc004fnu.1_Translation_Start_Site	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor						cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	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)					TGAACCTGTCGTGCAAAGCTC	0.527													A	155227302	G	A	155227302	1	1	282	1	0	0	0	0	0	0	0	0	7708	1160	40	1		1	IL9R	23	155227302	Translation_Start_Site	SNP	G	TCGA-HU-A4H6-01A-11D-A25D-08	83877532	155227302	43258	102	145282											
UBE2J2	118424	broad.mit.edu	37	chr1	1192466	1192466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggagacagaccaggccGggttccacgtgtccgggtgg	18	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1192466G>A	uc001adn.2	-	5	630	c.320C>T	c.(319-321)CCG>CTG	p.P107L	UBE2J2_uc001adm.2_Missense_Mutation_p.P72L|UBE2J2_uc001ado.2_Missense_Mutation_p.P123L|UBE2J2_uc001adp.2_Missense_Mutation_p.P107L|UBE2J2_uc001adq.2_Missense_Mutation_p.P55L|UBE2J2_uc001adr.2_Missense_Mutation_p.P55L|UBE2J2_uc001ads.2_Missense_Mutation_p.P55L	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	107	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		AGACCAGGCCGGGTTCCACGT	0.612													A	1192466	G	A	1192466	3	1	283	1	0	0	0	0	1	0	0	0	16858	1116	39	1	471	1	UBE2J2	1	1192466	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08		1192466	248058155	1	145283											
UBE2J2	118424	broad.mit.edu	37	chr1	1203285	1203285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcggcacagatgtaagGcaccgggtctttcttaatgc	13	10	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1203285G>A	uc001adn.2	-	2	398	c.88C>T	c.(88-90)CCT>TCT	p.P30S	UBE2J2_uc001adm.2_5'UTR|UBE2J2_uc001ado.2_Missense_Mutation_p.P30S|UBE2J2_uc001adp.2_Missense_Mutation_p.P30S|UBE2J2_uc001adq.2_5'UTR|UBE2J2_uc001adr.2_Intron|UBE2J2_uc001ads.2_5'UTR	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	30	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CAGATGTAAGGCACCGGGTCT	0.582													A	1203285	G	A	1203285	3	1	283	1	0	0	0	0	1	0	0	0	16858	1203	42	2	767	2	UBE2J2	1	1203285	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	10819	1203285	248047336	2	145284											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309472	1309472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggtggttcatcttccGccggcggatcttcagcacgt	12	12	4	0	rs149654038		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1309472G>A	uc001afb.1	-	2	516	c.406C>T	c.(406-408)CGG>TGG	p.R136W	AURKAIP1_uc001afc.2_Missense_Mutation_p.R136W|AURKAIP1_uc001afd.2_Missense_Mutation_p.R136W|AURKAIP1_uc009vkb.1_Missense_Mutation_p.R136W	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	136					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding				0	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;5.82e-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;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TTCATCTTCCGCCGGCGGATC	0.617													A	1309472	G	A	1309472	3	1	283	1	0	0	0	0	1	0	0	0	1222	1086	38	1	201	1	AURKAIP1	1	1309472	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	106187	1309472	247941149	3	145285											
CDK11A	728642	broad.mit.edu	37	chr1	1635564	1635564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggggatccgtactcccGcgccagcccaaaatcaccca	9	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1635564G>A	uc009vks.2	-	16	1816	c.1708C>T	c.(1708-1710)CGG>TGG	p.R570W	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Missense_Mutation_p.R77W|CDK11A_uc009vkp.2_Missense_Mutation_p.R187W|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.R560W	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	573	Protein kinase.				apoptosis|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			stomach(1)	1						CCGTACTCCCGCGCCAGCCCA	0.682													A	1635564	G	A	1635564	3	1	283	1	0	0	0	0	1	0	0	0	3126	1086	38	1	654	1	CDK11A	1	1635564	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	326092	1635564	247615057	4	145286											
GABRD	2563	broad.mit.edu	37	chr1	1957177	1957177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatcctgtacagcatccGgtgagcgggctgcccacccg	13	15	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:1957177G>A	uc001aip.2	+	4	565	c.470G>A	c.(469-471)CGA>CAA	p.R157Q		NM_000815	NP_000806	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	157	Extracellular (Probable).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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)		TACAGCATCCGGTGAGCGGGC	0.667													A	1957177	G	A	1957177	3	1	283	1	0	0	0	0	1	0	0	0	6169	1130	39	1	484	1	GABRD	1	1957177	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	321613	1957177	247293444	5	145287											
KIAA0562	9731	broad.mit.edu	37	chr1	3768920	3768920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcccgggcactgaagcCgtcttcgtgtccagatgagc	13	13	1	3	rs145413305	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:3768920C>T	uc001aky.2	-	2	411	c.52G>A	c.(52-54)GGC>AGC	p.G18S	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.G18S	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	18						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		GCACTGAAGCCGTCTTCGTGT	0.557													T	3768920	C	T	3768920	3	4	283	1	0	0	0	0	1	0	0	0	8184	652	23	1	2809	1	KIAA0562	1	3768920	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1811743	3768920	245481701	6	145288											
AJAP1	55966	broad.mit.edu	37	chr1	4772068	4772068	+	Frame_Shift_Del	DEL	G	G	-													gcctgtgaggccctgggcccGgggccggagttctggctcct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:4772068delG	uc001alm.1	+	2	519	c.138delG	c.(136-138)CCGfs	p.P46fs	AJAP1_uc001aln.2_Frame_Shift_Del_p.P46fs	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	46	Extracellular (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	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)		CCCTGGGCCCGGGGCCGGAGT	0.592													-	4772068	G	-	4772068	7	5	283	1	0	1	0	1	0	0	0	0	438	1103	39	0	144	0	AJAP1	1	4772068	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1003148	4772068	244478553	7	145289											
PLEKHG5	57449	broad.mit.edu	37	chr1	6556577	6556577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccgccccttgtccatGcaggcggggttctgacagcg	14	16	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:6556577G>A	uc001ano.1	-	2	158	c.57C>T	c.(55-57)TGC>TGT	p.C19C	PLEKHG5_uc001ann.1_5'UTR|PLEKHG5_uc001anq.1_Silent_p.C40C|PLEKHG5_uc001anp.1_Silent_p.C40C	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	19					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)		CCTTGTCCATGCAGGCGGGGT	0.677													A	6556577	G	A	6556577	2	1	283	1	0	0	0	0	0	0	0	1	12073	1311	46	2		2	PLEKHG5	1	6556577	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1784509	6556577	242694044	8	145290											
KLHL21	9903	broad.mit.edu	37	chr1	6653565	6653567	+	In_Frame_Del	DEL	AGA	AGA	-													gatgctgacactgccatgccAgaaggtgggttctgggagcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:6653564_6653566CAGA>C	uc001aoa.3	-	3	1705_1707	c.1653_1655TCTG>G	c.(1651-1656)ttctgg>ttGg	p.551_552FW>L	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.3_In_Frame_Del_p.184_185FW>L	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	551					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)		ACTGCCATGCCAGAAGGTGGGTT	0.611													-	6653567	AGA	-	6653565	7	5	283	1	0	1	0	1	0	0	0	0	8376	188	7	0	143	0	KLHL21	1	6653565	In_Frame_Del	DEL	AGA	TCGA-HU-A4H8-01A-11D-A25D-08	96988	6653565	242597056	9	145291											
CAMTA1	23261	broad.mit.edu	37	chr1	7724181	7724181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggagcttcagctttaCcaccgtcctcaccaaggaga	11	13	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:7724181C>T	uc001aoi.2	+	9	1781	c.1574C>T	c.(1573-1575)ACC>ATC	p.T525I		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	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)		TTCAGCTTTACCACCGTCCTC	0.637													T	7724181	C	T	7724181	3	4	283	1	0	0	0	0	1	0	0	0	2613	507	18	4	1608	4	CAMTA1	1	7724181	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1070616	7724181	241526440	10	145292											
NMNAT1	64802	broad.mit.edu	37	chr1	10042385	10042386	+	Frame_Shift_Ins	INS	-	-	G													aaaggtcaagctgctgtgtgINSgggcagatttattggagtcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:10042384_10042385T>TG	uc001aqp.3	+	4	609_610	c.465_466T>TG	c.(463-468)tgtgggfs	p.C155fs		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), mRNA.	155					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)		AGCTGCTGTGTGGGGCAGATTT	0.485													G	10042386	-	G	10042385	7	5	283	1	0	1	1	0	0	0	0	0	10498	1348	47	0	480	0	NMNAT1	1	10042385	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	2318204	10042385	239208236	11	145293											
CASZ1	54897	broad.mit.edu	37	chr1	10708045	10708045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggaggccgggctgggagCgggcccctccagagaggaca	18	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:10708045C>T	uc001aro.2	-	16	3630	c.3310G>A	c.(3310-3312)GCT>ACT	p.A1104T	CASZ1_uc001arp.1_Missense_Mutation_p.A1104T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1104	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	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)		GGGCTGGGAGCGGGCCCCTCC	0.706													T	10708045	C	T	10708045	3	4	283	1	0	0	0	0	1	0	0	0	2685	768	27	1	1997	1	CASZ1	1	10708045	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	665660	10708045	238542576	12	145294											
EXOSC10	5394	broad.mit.edu	37	chr1	11151609	11151609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagccggcagggaggacagGctgttgattcttgtttacac	13	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:11151609G>A	uc001asa.2	-	4	468	c.418C>T	c.(418-420)CCT>TCT	p.P140S	EXOSC10_uc001asb.2_Missense_Mutation_p.P140S|EXOSC10_uc009vmy.1_Missense_Mutation_p.P140S	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	140					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			upper_aerodigestive_tract(1)	1	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)		GGGAGGACAGGCTGTTGATTC	0.468													A	11151609	G	A	11151609	3	1	283	1	0	0	0	0	1	0	0	0	5314	1203	42	2	2327	2	EXOSC10	1	11151609	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	443564	11151609	238099012	13	145295											
PDPN	10630	broad.mit.edu	37	chr1	13910567	13910567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttcgttttgggaagCgcgtcgctctgggtcctggc	14	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:13910567C>T	uc001avd.2	+	1	316	c.267C>T	c.(265-267)AGC>AGT	p.S89S	PDPN_uc001avc.2_Silent_p.S89S|PDPN_uc009vob.2_5'Flank|PDPN_uc009voc.2_5'Flank|PDPN_uc001ave.2_5'Flank|PDPN_uc001avf.2_5'Flank	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	13					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTTTGGGAAGCGCGTCGCTCT	0.597													T	13910567	C	T	13910567	2	4	283	1	0	0	0	0	0	0	0	1	11688	767	27	1		1	PDPN	1	13910567	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2758958	13910567	235340054	14	145296											
KAZ	23254	broad.mit.edu	37	chr1	14925519	14925519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacaataagcagctcgCgctccgcatcgatggggcgg	15	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:14925519C>T	uc001avm.3	+	1	307	c.26C>T	c.(25-27)GCG>GTG	p.A9V	KAZ_uc009vog.1_Missense_Mutation_p.A9V|KAZ_uc010obj.1_Missense_Mutation_p.A9V	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	9					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						AAGCAGCTCGCGCTCCGCATC	0.517													T	14925519	C	T	14925519	3	4	283	1	0	0	0	0	1	0	0	0	7988	768	27	1	28	1	KAZ	1	14925519	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1014952	14925519	234325102	15	145297											
KAZ	23254	broad.mit.edu	37	chr1	14925623	14925623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggaactgagcggcggcGgcggccccggcccgggcccg	20	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:14925623G>A	uc001avm.3	+	1	411	c.130G>A	c.(130-132)GGC>AGC	p.G44S	KAZ_uc009vog.1_Missense_Mutation_p.G44S|KAZ_uc010obj.1_Missense_Mutation_p.G44S	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	44					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						GAgcggcggcggcggccccgg	0.463													A	14925623	G	A	14925623	3	1	283	1	0	0	0	0	1	0	0	0	7988	1116	39	1	132	1	KAZ	1	14925623	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	104	14925623	234324998	16	145298											
KAZ	23254	broad.mit.edu	37	chr1	15361377	15361377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaactatgagcagcaccGcaaggtcagccgccgccctg	11	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:15361377G>A	uc001avm.3	+	3	832	c.551G>A	c.(550-552)CGC>CAC	p.R184H	KAZ_uc009vog.1_Missense_Mutation_p.R184H|KAZ_uc010obj.1_Missense_Mutation_p.R184H|KAZ_uc001avo.2_Missense_Mutation_p.R178H|KAZ_uc001avp.2_Missense_Mutation_p.R90H|KAZ_uc001avq.2_Missense_Mutation_p.R90H|KAZ_uc001avr.2_Missense_Mutation_p.R87H	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	184	Interaction with PPL.|Potential.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						GAGCAGCACCGCAAGGTCAGC	0.642													A	15361377	G	A	15361377	3	1	283	1	0	0	0	0	1	0	0	0	7988	1087	38	1	773	1	KAZ	1	15361377	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	435754	15361377	233889244	17	145299											
SPEN	23013	broad.mit.edu	37	chr1	16254958	16254959	+	Frame_Shift_Del	DEL	CT	CT	-													cagagtcctggagcgtctccCtctcaggcagagaggttgcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:16254958_16254959delCT	uc001axk.1	+	11	2427_2428	c.2223_2224delCT	c.(2221-2226)CCCTCTfs	p.P741fs	SPEN_uc010obp.1_Frame_Shift_Del_p.P700fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	741_742	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		GAGCGTCTCCCTCTCAGGCAGA	0.55													-	16254959	CT	-	16254958	7	5	283	1	0	1	0	1	0	0	0	0	15037	668	24	0	2265	0	SPEN	1	16254958	Frame_Shift_Del	DEL	CT	TCGA-HU-A4H8-01A-11D-A25D-08	893581	16254958	232995663	18	145300											
EPHA2	1969	broad.mit.edu	37	chr1	16458280	16458280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcccacatgacaatgCcaaagctccacacgtcgctg	6	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:16458280C>T	uc001aya.1	-	14	2548	c.2411G>A	c.(2410-2412)GGC>GAC	p.G804D		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	804	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|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)	CATGACAATGCCAAAGCTCCA	0.647													T	16458280	C	T	16458280	3	4	283	1	0	0	0	0	1	0	0	0	5167	739	26	2	535	2	EPHA2	1	16458280	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	203322	16458280	232792341	19	145301											
KIF17	57576	broad.mit.edu	37	chr1	21044071	21044071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcggctcgtcggcggcGcccgggttctggatgcagca	18	12	1	0	rs143883135		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:21044071G>A	uc001bdr.3	-	1	247	c.129C>T	c.(127-129)GGC>GGT	p.G43G	KIF17_uc001bds.3_Silent_p.G43G	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	43	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		CGTCGGCGGCGCCCGGGTTCT	0.682													A	21044071	G	A	21044071	2	1	283	1	0	0	0	0	0	0	0	1	8279	1074	38	1		1	KIF17	1	21044071	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4585791	21044071	228206550	20	145302											
SH2D5	400745	broad.mit.edu	37	chr1	21050922	21050922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccctctgctggcagccgCcgaaaggagaccagggcatg	14	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:21050922C>T	uc001bdt.1	-	5	970	c.345G>A	c.(343-345)CGG>CGA	p.R115R	SH2D5_uc009vpy.1_Silent_p.R199R|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	115											0		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)		CTGGCAGCCGCCGAAAGGAGA	0.662													T	21050922	C	T	21050922	2	4	283	1	0	0	0	0	0	0	0	1	14237	726	26	2		2	SH2D5	1	21050922	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6851	21050922	228199699	21	145303											
HSPG2	3339	broad.mit.edu	37	chr1	22172952	22172952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatacctgatggtgacTggggaggctgcccccacgct	14	13	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:22172952T>C	uc001bfj.2	-	63	8345	c.8305A>G	c.(8305-8307)AGT>GGT	p.S2769G	HSPG2_uc009vqd.2_Missense_Mutation_p.S2770G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2769	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	TGATGGTGACTGGGGAGGCTG	0.657													C	22172952	T	C	22172952	3	2	283	1	0	0	0	0	1	0	0	0	7430	1580	55	3	5010	3	HSPG2	1	22172952	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1122030	22172952	227077669	22	145304											
RUNX3	864	broad.mit.edu	37	chr1	25254203	25254203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccgtaccatccggcaCgtcccccaatgccaccacct	5	22	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:25254203C>T	uc001bjq.2	-	2	712	c.301G>A	c.(301-303)GTG>ATG	p.V101M	RUNX3_uc010oen.1_Missense_Mutation_p.V101M|RUNX3_uc009vrj.2_Missense_Mutation_p.V115M|RUNX3_uc001bjr.2_Missense_Mutation_p.V115M	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	101	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				0		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)		CCATCCGGCACGTCCCCCAAT	0.632													T	25254203	C	T	25254203	3	4	283	1	0	0	0	0	1	0	0	0	13749	536	19	1	962	1	RUNX3	1	25254203	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3081251	25254203	223996418	23	145305											
ZNF683	257101	broad.mit.edu	37	chr1	26694122	26694122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaggccctgcaggtctGtgcccaggggtgccggctgt	17	12	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:26694122G>A	uc001bmg.1	-	3	399	c.281C>T	c.(280-282)ACA>ATA	p.T94I	ZNF683_uc001bmh.1_Missense_Mutation_p.T94I|ZNF683_uc009vsj.1_Missense_Mutation_p.T94I	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-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;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|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;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTGCAGGTCTGTGCCCAGGGG	0.692													A	26694122	G	A	26694122	3	1	283	1	0	0	0	0	1	0	0	0	18087	1377	48	4	1249	4	ZNF683	1	26694122	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1439919	26694122	222556499	24	145306											
DHDDS	79947	broad.mit.edu	37	chr1	26795419	26795419	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcagaggagcggaagAggcagcagctggagagggac	19	6	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:26795419A>C	uc001bml.2	+	9	920	c.799A>C	c.(799-801)AGG>CGG	p.R267R	DHDDS_uc001bmk.2_Silent_p.R268R|DHDDS_uc001bmm.2_Silent_p.R174R|DHDDS_uc001bmn.2_Silent_p.R228R|DHDDS_uc010ofd.1_Silent_p.R233R|uc001bmo.1_5'Flank	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	267							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		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)		GGAGCGGAAGAGGCAGCAGCT	0.592													C	26795419	A	C	26795419	2	2	283	1	0	0	0	0	0	0	0	1	4478	295	11	5		5	DHDDS	1	26795419	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	101297	26795419	222455202	25	145307											
ARID1A	8289	broad.mit.edu	37	chr1	27088699	27088699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccccccagcccggctcaGccttatctccgcgtcagcct	8	20	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27088699G>A	uc001bmv.1	+	7	2681	c.2308G>A	c.(2308-2310)GCC>ACC	p.A770T	ARID1A_uc001bmt.1_Missense_Mutation_p.A770T|ARID1A_uc001bmu.1_Missense_Mutation_p.A770T|ARID1A_uc001bmw.1_Missense_Mutation_p.A387T	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	770					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		GCCCGGCTCAGCCTTATCTCC	0.542			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								A	27088699	G	A	27088699	3	1	283	1	0	0	0	0	1	0	0	0	913	971	34	2	2334	2	ARID1A	1	27088699	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	293280	27088699	222161922	26	145308											
WDTC1	23038	broad.mit.edu	37	chr1	27620601	27620601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgcagcccagtattacGtagcaggtagcgctcagcac	12	12	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27620601G>A	uc009vst.2	+	8	1286	c.751G>A	c.(751-753)GTA>ATA	p.V251I	WDTC1_uc001bno.2_Missense_Mutation_p.V251I|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	251							protein binding			ovary(1)|central_nervous_system(1)	2		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)		CCAGTATTACGTAGCAGGTAG	0.527													A	27620601	G	A	27620601	3	1	283	1	0	0	0	0	1	0	0	0	17339	1145	40	1	777	1	WDTC1	1	27620601	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	531902	27620601	221630020	27	145309											
MAP3K6	9064	broad.mit.edu	37	chr1	27684337	27684337	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaactctcctccggagacgcAggctcctcggccgcaggctc	12	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27684337A>T	uc001bny.1	-	22	3195	c.2946T>A	c.(2944-2946)CCT>CCA	p.P982P	MAP3K6_uc009vsw.1_Silent_p.P974P	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	982					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		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)		CCGGAGACGCAGGCTCCTCGG	0.682											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	27684337	A	T	27684337	2	4	283	1	0	0	0	0	0	0	0	1	9254	175	7	5		5	MAP3K6	1	27684337	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	63736	27684337	221566284	28	145310											
CD164L2	388611	broad.mit.edu	37	chr1	27709037	27709037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcagctggagagattgCgcgctctgtctccctccacg	11	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27709037C>T	uc001boc.2	-	2	285	c.209G>A	c.(208-210)CGC>CAC	p.R70H		NM_207397	NP_997280	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	70	Extracellular (Potential).					integral to membrane					0		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;2.89e-26)|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)		GGAGAGATTGCGCGCTCTGTC	0.647													T	27709037	C	T	27709037	3	4	283	1	0	0	0	0	1	0	0	0	2970	768	27	1	328	1	CD164L2	1	27709037	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	24700	27709037	221541584	29	145311											
AHDC1	27245	broad.mit.edu	37	chr1	27876815	27876815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccttgctgtcgttggcGtctgctgcataggatggctg	15	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:27876815G>A	uc009vsy.2	-	6	2781	c.1812C>T	c.(1810-1812)GAC>GAT	p.D604D	AHDC1_uc009vsz.1_Silent_p.D604D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	604							DNA binding			central_nervous_system(1)	1		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)		TGTCGTTGGCGTCTGCTGCAT	0.642													A	27876815	G	A	27876815	2	1	283	1	0	0	0	0	0	0	0	1	412	1136	40	1		1	AHDC1	1	27876815	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	167778	27876815	221373806	30	145312											
PTPRU	10076	broad.mit.edu	37	chr1	29585189	29585189	+	Frame_Shift_Del	DEL	C	C	-													tacgtgcgcgttaatgggggCcccctgggcagtgctgtgtg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:29585188_29585188GC>G	uc001bru.3	+	2	506	c.377_377GC>G	c.(376-378)ggcfs	p.G126fs	PTPRU_uc009vtq.3_Frame_Shift_Del_p.G126fs|PTPRU_uc009vtr.3_Frame_Shift_Del_p.G126fs|PTPRU_uc001brw.3_Frame_Shift_Del_p.G126fs	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	126	MAM.				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)		GTTAATGGGGGCCCCCTGGGC	0.607													-	29585189	C	-	29585189	7	5	283	1	0	1	0	1	0	0	0	0	12813	726	26	0	388	0	PTPRU	1	29585189	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	1708374	29585189	219665432	31	145313											
PUM1	9698	broad.mit.edu	37	chr1	31452916	31452916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaatgtctcacctagtgtCgctgctgcagccaatccagc	9	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:31452916C>T	uc001bsi.1	-	9	1460	c.1347G>A	c.(1345-1347)GCG>GCA	p.A449A	PUM1_uc001bsf.1_Silent_p.A115A|PUM1_uc001bsg.1_Silent_p.A262A|PUM1_uc001bsh.1_Silent_p.A449A|PUM1_uc001bsj.1_Silent_p.A450A|PUM1_uc010oga.1_Silent_p.A353A|PUM1_uc001bsk.1_Silent_p.A485A|PUM1_uc010ogb.1_Silent_p.A390A	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	449	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		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)		CACCTAGTGTCGCTGCTGCAG	0.493													T	31452916	C	T	31452916	2	4	283	1	0	0	0	0	0	0	0	1	12825	871	31	1		1	PUM1	1	31452916	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1867727	31452916	217797705	32	145314											
SERINC2	347735	broad.mit.edu	37	chr1	31898734	31898734	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgggcaaggccgaggAgtgcgattcccgtgcctggt	18	10	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:31898734A>C	uc010ogh.1	+	5	797	c.596A>C	c.(595-597)GAG>GCG	p.E199A	SERINC2_uc010ogg.1_Missense_Mutation_p.E196A|SERINC2_uc009vtw.1_Silent_p.G168G|SERINC2_uc001bst.2_Missense_Mutation_p.E195A|SERINC2_uc001bsu.2_Missense_Mutation_p.E140A|SERINC2_uc001bsv.2_Missense_Mutation_p.E140A	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	195						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		AAGGCCGAGGAGTGCGATTCC	0.652													C	31898734	A	C	31898734	3	2	283	1	0	0	0	0	1	0	0	0	14080	304	11	5	602	5	SERINC2	1	31898734	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	445818	31898734	217351887	33	145315											
HDAC1	3065	broad.mit.edu	37	chr1	32793251	32793251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcataagtatggagaGtacttcccaggaactgggga	11	8	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:32793251G>T	uc001bvb.1	+	6	672	c.609G>T	c.(607-609)GAG>GAT	p.E203D	HDAC1_uc010ohd.1_Missense_Mutation_p.E203D|HDAC1_uc010ohe.1_Missense_Mutation_p.E140D|HDAC1_uc010ohf.1_Missense_Mutation_p.E174D|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	histone deacetylase 1	203	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)	3		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AGTATGGAGAGTACTTCCCAG	0.532													T	32793251	G	T	32793251	3	4	283	1	0	0	0	0	1	0	0	0	7004	1020	36	5	631	5	HDAC1	1	32793251	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	894517	32793251	216457370	34	145316											
ADC	113451	broad.mit.edu	37	chr1	33560306	33560306	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggggccaaagtgagaTttgaagaggtaaccctggag	15	6	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:33560306T>G	uc001bwr.2	+	8	1332	c.745T>G	c.(745-747)TTT>GTT	p.F249V	ADC_uc001bws.2_Missense_Mutation_p.F249V|ADC_uc009vue.2_Missense_Mutation_p.F249V|ADC_uc001bwt.1_Missense_Mutation_p.F154V|ADC_uc001bwu.2_Missense_Mutation_p.F154V|ADC_uc001bwv.2_Missense_Mutation_p.F154V|ADC_uc001bww.2_Missense_Mutation_p.F154V|ADC_uc001bwx.1_Missense_Mutation_p.F226V|ADC_uc001bwz.1_Missense_Mutation_p.F249V|ADC_uc009vuf.1_Intron|ADC_uc001bwy.1_Missense_Mutation_p.F98V|ADC_uc009vug.2_Missense_Mutation_p.F249V	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	249					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAAAGTGAGATTTGAAGAGGT	0.592											OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33560306	T	G	33560306	3	3	283	1	0	0	0	0	1	0	0	0	287	1493	52	5	763	5	ADC	1	33560306	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	767055	33560306	215690315	35	145317											
DLGAP3	58512	broad.mit.edu	37	chr1	35334691	35334691	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcttgaaccttgctcgcCtggggagaggggtggctgtc	17	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:35334691C>T	uc001byc.2	-	7	2001	c.2001_splice	c.e7-1	p.R667_splice		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated						cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CCTTGCTCGCCTGGGGAGAGG	0.617													T	35334691	C	T	35334691	5	4	283	1	0	0	0	0	0	0	1	0	4561	695	24	4	955	4	DLGAP3	1	35334691	Splice_Site	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1774385	35334691	213915930	36	145318											
MACF1	23499	broad.mit.edu	37	chr1	39854025	39854025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattccttaacaaaattcacGtcctcaaattagacatagag	4	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:39854025G>A	uc010oiu.1	+	22	10962	c.10831G>A	c.(10831-10833)GTC>ATC	p.V3611I	MACF1_uc010ois.1_Missense_Mutation_p.V3109I|MACF1_uc001cda.1_Missense_Mutation_p.V2996I|MACF1_uc001cdc.1_Missense_Mutation_p.V2175I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5176	LRR 20.				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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			CAAAATTCACGTCCTCAAATT	0.478													A	39854025	G	A	39854025	3	1	283	1	0	0	0	0	1	0	0	0	9144	1145	40	1	15686	1	MACF1	1	39854025	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4519334	39854025	209396596	37	145319											
CAP1	10487	broad.mit.edu	37	chr1	40525076	40525076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtgggccgcctggagGcagtatctcatacctctgac	14	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:40525076G>A	uc001cfa.3	+	2	287	c.58G>A	c.(58-60)GCA>ACA	p.A20T	CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.A20T|CAP1_uc001cez.3_Missense_Mutation_p.A20T|CAP1_uc009vvz.2_Missense_Mutation_p.A20T|CAP1_uc010oje.1_5'UTR	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	20					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	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)			CCGCCTGGAGGCAGTATCTCA	0.483													A	40525076	G	A	40525076	3	1	283	1	0	0	0	0	1	0	0	0	2619	1203	42	2	60	2	CAP1	1	40525076	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	671051	40525076	208725545	38	145320											
HIVEP3	59269	broad.mit.edu	37	chr1	42048868	42048868	+	Frame_Shift_Del	DEL	G	G	-													ggcttctcaggagaggcacaGggggggcggtactgggcggg					rs151333512		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:42048868delG	uc001cgz.3	-	4	2814	c.1601delC	c.(1600-1602)CCTfs	p.P534fs	HIVEP3_uc001cha.3_Frame_Shift_Del_p.P534fs|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGAGGCACAGGGGGGGCGGT	0.597													-	42048868	G	-	42048868	7	5	283	1	0	1	0	1	0	0	0	0	7188	1000	35	0	5643	0	HIVEP3	1	42048868	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1523792	42048868	207201753	39	145321											
MPL	4352	broad.mit.edu	37	chr1	43818232	43818232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagaagtggaacccaGcctccttgaaatcctcccca	8	14	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:43818232G>A	uc001ciw.2	+	12	1742	c.1697G>A	c.(1696-1698)AGC>AAC	p.S566N	MPL_uc009vwr.2_Missense_Mutation_p.S559N	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	566	Cytoplasmic (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGGAACCCAGCCTCCTTGAA	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43818232	G	A	43818232	3	1	283	1	0	0	0	0	1	0	0	0	9730	971	34	2	1743	2	MPL	1	43818232	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1769364	43818232	205432389	40	145322											
ATP6V0B	533	broad.mit.edu	37	chr1	44442888	44442888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgtcgcaattcttcaGgtgatgaatccccttgggaa	10	10	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:44442888G>T	uc001cld.2	+	7	702	c.591G>T	c.(589-591)CAG>CAT	p.Q197H	ATP6V0B_uc001clc.2_Missense_Mutation_p.Q197H|ATP6V0B_uc001cle.2_Missense_Mutation_p.Q150H|ATP6V0B_uc001clf.2_Missense_Mutation_p.Q150H|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	197	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAATTCTTCAGGTGATGAATC	0.517													T	44442888	G	T	44442888	3	4	283	1	0	0	0	0	1	0	0	0	1171	1014	35	5	617	5	ATP6V0B	1	44442888	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	624656	44442888	204807733	41	145323											
PLK3	1263	broad.mit.edu	37	chr1	45266542	45266542	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccgctgctacgaggccactGacacagagactggcagcgcc	12	16	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:45266542G>A	uc001cmn.2	+	2	341	c.241G>A	c.(241-243)GAC>AAC	p.D81N	PLK3_uc001cmo.2_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	81	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					CGAGGCCACTGACACAGAGAC	0.692													A	45266542	G	A	45266542	3	1	283	1	0	0	0	0	1	0	0	0	12097	1290	45	4	247	4	PLK3	1	45266542	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	823654	45266542	203984079	42	145324											
PTCH2	8643	broad.mit.edu	37	chr1	45294915	45294915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccaccagcagtacccCggcaaggcccacggaaccct	11	18	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:45294915C>T	uc010olf.1	-	10	1297	c.1285G>A	c.(1285-1287)GGG>AGG	p.G429R	PTCH2_uc010olg.1_Missense_Mutation_p.G128R	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	429	Helical; (Potential).|SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGCAGTACCCCGGCAAGGCCC	0.672									Basal_Cell_Nevus_syndrome				T	45294915	C	T	45294915	3	4	283	1	0	0	0	0	1	0	0	0	12731	652	23	1	2398	1	PTCH2	1	45294915	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	28373	45294915	203955706	43	145325											
SCP2	6342	broad.mit.edu	37	chr1	53446175	53446175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgattgcttttctaccaaCgaactccttacttatgaagc	5	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:53446175C>T	uc001cur.1	+	10	1054	c.933C>T	c.(931-933)AAC>AAT	p.N311N	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Silent_p.N230N|SCP2_uc010onp.1_Silent_p.N287N|SCP2_uc009vzi.1_Silent_p.N267N|SCP2_uc001cuq.1_Silent_p.N267N	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	311					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						TTTCTACCAACGAACTCCTTA	0.373													T	53446175	C	T	53446175	2	4	283	1	0	0	0	0	0	0	0	1	13934	535	19	1		1	SCP2	1	53446175	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	8151260	53446175	195804446	44	145326											
DOCK7	85440	broad.mit.edu	37	chr1	62960061	62960061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcttcagcatgattgcttCgttctgagtgcttgcctgcc	10	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:62960061C>T	uc001daq.2	-	40	5109	c.5075G>A	c.(5074-5076)CGA>CAA	p.R1692Q	DOCK7_uc001dan.2_Missense_Mutation_p.R1553Q|DOCK7_uc001dao.2_Missense_Mutation_p.R1553Q|DOCK7_uc001dap.2_Missense_Mutation_p.R1670Q|DOCK7_uc001dam.2_Missense_Mutation_p.R872Q|DOCK7_uc010oov.1_Missense_Mutation_p.R431Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1701	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			ovary(2)	2						ATGATTGCTTCGTTCTGAGTG	0.473													T	62960061	C	T	62960061	3	4	283	1	0	0	0	0	1	0	0	0	4692	884	31	1	1364	1	DOCK7	1	62960061	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	9513886	62960061	186290560	45	145327											
ATG4C	84938	broad.mit.edu	37	chr1	63299733	63299733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaagcctggaatattgtGtgggtattattggtggcaaa	12	3	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:63299733G>A	uc001dat.2	+	8	1120	c.958G>A	c.(958-960)GTG>ATG	p.V320M	ATG4C_uc001dau.2_Missense_Mutation_p.V320M	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	320					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						GGAATATTGTGTGGGTATTAT	0.289													A	63299733	G	A	63299733	3	1	283	1	0	0	0	0	1	0	0	0	1098	1377	48	4	984	4	ATG4C	1	63299733	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	339672	63299733	185950888	46	145328											
ROR1	4919	broad.mit.edu	37	chr1	64644147	64644147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgctggtttcattggccCgccaatacctcagaaccagc	9	13	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:64644147C>T	uc001dbj.2	+	9	2822	c.2423C>T	c.(2422-2424)CCG>CTG	p.P808L	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	808	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TTCATTGGCCCGCCAATACCT	0.517													T	64644147	C	T	64644147	3	4	283	1	0	0	0	0	1	0	0	0	13526	652	23	1	2465	1	ROR1	1	64644147	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1344414	64644147	184606474	47	145329											
DNAJC6	9829	broad.mit.edu	37	chr1	65851489	65851489	+	Frame_Shift_Del	DEL	C	C	-													cgatcactgtcagtccaataCcctttttcaacaaacagagg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:65851488_65851488AC>A	uc001dce.1	+	6	1095	c.894_894AC>A	c.(892-894)atafs	p.I298fs	DNAJC6_uc001dcc.1_Frame_Shift_Del_p.I272fs|DNAJC6_uc001dcd.1_Frame_Shift_Del_p.I241fs|DNAJC6_uc010opc.1_Frame_Shift_Del_p.I228fs	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	241	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCAGTCCAATACCCTTTTTCA	0.438													-	65851489	C	-	65851489	7	5	283	1	0	1	0	1	0	0	0	0	4653	507	18	0	750	0	DNAJC6	1	65851489	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	1207342	65851489	183399132	48	145330											
DNAJC6	9829	broad.mit.edu	37	chr1	65874405	65874405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagacaaaaaggggcctcGgacaatagctgagatgagaa	12	7	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:65874405G>A	uc001dcd.1	+	17	2566	c.2402G>A	c.(2401-2403)CGG>CAG	p.R801Q	DNAJC6_uc010opc.1_Missense_Mutation_p.R788Q|DNAJC6_uc001dce.1_Missense_Mutation_p.R858Q	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	801					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AAGGGGCCTCGGACAATAGCT	0.423													A	65874405	G	A	65874405	3	1	283	1	0	0	0	0	1	0	0	0	4653	1116	39	1	2468	1	DNAJC6	1	65874405	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	22916	65874405	183376216	49	145331											
CLCA1	1179	broad.mit.edu	37	chr1	86961302	86961302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagttaacgcagccagacGgagagtgataccccagcaga	13	10	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:86961302G>A	uc001dlt.2	+	12	2186	c.2057G>A	c.(2056-2058)CGG>CAG	p.R686Q		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	686					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCAGCCAGACGGAGAGTGATA	0.458													A	86961302	G	A	86961302	3	1	283	1	0	0	0	0	1	0	0	0	3457	1116	39	1	2103	1	CLCA1	1	86961302	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	21086897	86961302	162289319	50	145332											
ZNF644	84146	broad.mit.edu	37	chr1	91405088	91405088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacacatgatgatgaatgcAagtactccgtgtgctttttt	8	8	0	3	rs144401883		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:91405088A>G	uc001dnw.2	-	3	1965	c.1823T>C	c.(1822-1824)TTG>TCG	p.L608S	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.L608S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	608	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGATGAATGCAAGTACTCCGT	0.353													G	91405088	A	G	91405088	3	3	283	1	0	0	0	0	1	0	0	0	18057	131	5	3	2176	3	ZNF644	1	91405088	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	4443786	91405088	157845533	51	145333											
TGFBR3	7049	broad.mit.edu	37	chr1	92181821	92181821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtgtccattctctggcAcagagaagacgccctgggag	12	11	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:92181821A>G	uc001doh.2	-	12	2304	c.1838T>C	c.(1837-1839)GTG>GCG	p.V613A	TGFBR3_uc009wde.2_Missense_Mutation_p.V390A|TGFBR3_uc010osy.1_Missense_Mutation_p.V571A|TGFBR3_uc001doi.2_Missense_Mutation_p.V612A|TGFBR3_uc001doj.2_Missense_Mutation_p.V612A	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	613	ZP.|Extracellular (Potential).				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			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATTCTCTGGCACAGAGAAGAC	0.488													G	92181821	A	G	92181821	3	3	283	1	0	0	0	0	1	0	0	0	15820	159	6	3	741	3	TGFBR3	1	92181821	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	776733	92181821	157068800	52	145334											
FRRS1	391059	broad.mit.edu	37	chr1	100195232	100195232	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccattacagggtgacttcGccccgttaaatgggaaggct	12	10	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:100195232G>A	uc001dsh.1	-	8	1434	c.832C>T	c.(832-834)CGA>TGA	p.R278*		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	278	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			skin(1)	1		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)		GGGTGACTTCGCCCCGTTAAA	0.478													A	100195232	G	A	100195232	4	1	283	1	0	0	0	0	0	1	0	0	6060	1095	38	1	1088	1	FRRS1	1	100195232	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8013411	100195232	149055389	53	145335											
CELSR2	1952	broad.mit.edu	37	chr1	109811556	109811556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggggccaagctgccccGctacgaggccctgcgtgggg	17	14	0	0	rs141644848		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:109811556G>A	uc001dxa.3	+	19	6618	c.6557G>A	c.(6556-6558)CGC>CAC	p.R2186H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2186	Extracellular (Potential).				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			ovary(4)|lung(3)|skin(1)	8		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)		AAGCTGCCCCGCTACGAGGCC	0.592													A	109811556	G	A	109811556	3	1	283	1	0	0	0	0	1	0	0	0	3222	1087	38	1	6631	1	CELSR2	1	109811556	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9616324	109811556	139439065	54	145336											
FAM40A	85369	broad.mit.edu	37	chr1	110586300	110586300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagatgccttcaacgagCgggatccctacaaggctgat	10	12	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:110586300C>T	uc001dza.1	+	10	1127	c.1108C>T	c.(1108-1110)CGG>TGG	p.R370W	FAM40A_uc001dyz.1_Missense_Mutation_p.R275W|FAM40A_uc009wfp.1_Missense_Mutation_p.R194W	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	370						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CTTCAACGAGCGGGATCCCTA	0.532													T	110586300	C	T	110586300	3	4	283	1	0	0	0	0	1	0	0	0	5560	759	27	1	1146	1	FAM40A	1	110586300	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	774744	110586300	138664321	55	145337											
KCNA10	3744	broad.mit.edu	37	chr1	111060754	111060754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccaacaccgagaccacgGccacagcacgggcagcgctg	11	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:111060754G>A	uc001dzt.1	-	1	1044	c.656C>T	c.(655-657)GCC>GTC	p.A219V		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	219	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		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)		CGAGACCACGGCCACAGCACG	0.552													A	111060754	G	A	111060754	3	1	283	1	0	0	0	0	1	0	0	0	8002	1203	42	2	883	2	KCNA10	1	111060754	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	474454	111060754	138189867	56	145338											
MOV10	4343	broad.mit.edu	37	chr1	113239384	113239384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatactcactgctggagcGgctgctcacctacaactccc	10	15	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:113239384G>A	uc001eck.2	+	14	2384	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.R705Q|MOV10_uc001ecm.2_Missense_Mutation_p.R645Q	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	705					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			ovary(4)|skin(1)	5	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)		CTGCTGGAGCGGCTGCTCACC	0.602													A	113239384	G	A	113239384	3	1	283	1	0	0	0	0	1	0	0	0	9718	1116	39	1	2164	1	MOV10	1	113239384	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2178630	113239384	136011237	57	145339											
RSBN1	54665	broad.mit.edu	37	chr1	114310974	114310974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgcggggttcactggtccGaggtaggtactggagatttt	15	7	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114310974G>A	uc001edq.2	-	5	1732	c.1696C>T	c.(1696-1698)CGG>TGG	p.R566W	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	566						nucleus				ovary(1)	1	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)		TCACTGGTCCGAGGTAGGTAC	0.428													A	114310974	G	A	114310974	3	1	283	1	0	0	0	0	1	0	0	0	13696	1057	37	1	724	1	RSBN1	1	114310974	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1071590	114310974	134939647	58	145340											
AP4B1	10717	broad.mit.edu	37	chr1	114442915	114442915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctactgctcttgaggaaaCtatccaacagattgagaatg	10	8	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114442915C>A	uc001eeb.2	-	5	868	c.725G>T	c.(724-726)AGT>ATT	p.S242I	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.S74I|AP4B1_uc001eed.2_Missense_Mutation_p.S242I|AP4B1_uc010owp.1_Missense_Mutation_p.S143I|AP4B1_uc001eea.1_Missense_Mutation_p.S36I|AP4B1_uc010owq.1_Missense_Mutation_p.S149I	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	242					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	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)		CTTGAGGAAACTATCCAACAG	0.463													A	114442915	C	A	114442915	3	1	283	1	0	0	0	0	1	0	0	0	751	565	20	5	1518	5	AP4B1	1	114442915	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	131941	114442915	134807706	59	145341											
OLFML3	56944	broad.mit.edu	37	chr1	114523959	114523959	+	Frame_Shift_Del	DEL	C	C	-													ttcccagcagaggggctgatCcccccctacggcttgacagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114523959delC	uc001eer.1	+	3	898	c.789delC	c.(787-789)ATCfs	p.I263fs	OLFML3_uc001ees.1_Frame_Shift_Del_p.I243fs|OLFML3_uc001eet.1_Frame_Shift_Del_p.I119fs	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	263	Olfactomedin-like.				multicellular organismal development	extracellular region					0	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)		AGGGGCTGATCCCCCCCTACG	0.557													-	114523959	C	-	114523959	7	5	283	1	0	1	0	1	0	0	0	0	10859	845	30	0	799	0	OLFML3	1	114523959	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	81044	114523959	134726662	60	145342											
TRIM33	51592	broad.mit.edu	37	chr1	114969847	114969847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggatcacaatggaaacGtattgctccattagcagcag	12	8	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:114969847G>A	uc001eew.2	-	8	1456	c.1372C>T	c.(1372-1374)CGT>TGT	p.R458C	TRIM33_uc010owr.1_Missense_Mutation_p.R66C|TRIM33_uc010ows.1_Missense_Mutation_p.R66C|TRIM33_uc001eex.2_Missense_Mutation_p.R458C	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	458					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			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	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)		CAATGGAAACGTATTGCTCCA	0.378			T	RET	papillary thyroid								A	114969847	G	A	114969847	3	1	283	1	0	0	0	0	1	0	0	0	16504	1145	40	1	2063	1	TRIM33	1	114969847	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	445888	114969847	134280774	61	145343											
IGSF3	3321	broad.mit.edu	37	chr1	117146584	117146584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggacactgcaggagaagCgcaggtcctcgccctcaagg	14	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:117146584C>T	uc001egr.1	-	6	1991	c.1286G>A	c.(1285-1287)CGC>CAC	p.R429H	IGSF3_uc001egq.1_Missense_Mutation_p.R449H|IGSF3_uc001egs.1_Missense_Mutation_p.R102H	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	429	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				ovary(2)	2	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)		GCAGGAGAAGCGCAGGTCCTC	0.607													T	117146584	C	T	117146584	3	4	283	1	0	0	0	0	1	0	0	0	7601	768	27	1	2322	1	IGSF3	1	117146584	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2176737	117146584	132104037	62	145344											
TRIM45	80263	broad.mit.edu	37	chr1	117663484	117663484	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcattcacggccaggtggtCtatggttaaagccttcactc	9	11	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:117663484C>T	uc001egz.2	-	1	928	c.340G>A	c.(340-342)GAC>AAC	p.D114N	TRIM45_uc009whe.2_Missense_Mutation_p.D114N|TRIM45_uc001eha.2_Missense_Mutation_p.D10N	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	114						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	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)		GCCAGGTGGTCTATGGTTAAA	0.562													T	117663484	C	T	117663484	3	4	283	1	0	0	0	0	1	0	0	0	16517	913	32	4	1426	4	TRIM45	1	117663484	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	516900	117663484	131587137	63	145345											
FAM46C	54855	broad.mit.edu	37	chr1	118165698	118165698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaaagtgcacgacgtcCggctgaatggctccgcagct	12	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:118165698C>T	uc001ehe.2	+	2	407	c.208C>T	c.(208-210)CGG>TGG	p.R70W		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	70											0	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)		GCACGACGTCCGGCTGAATGG	0.567										Multiple Myeloma(3;1.13e-06)			T	118165698	C	T	118165698	3	4	283	1	0	0	0	0	1	0	0	0	5567	643	23	1	210	1	FAM46C	1	118165698	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	502214	118165698	131084923	64	145346											
WARS2	10352	broad.mit.edu	37	chr1	119575804	119575804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccactatgttggacacGccagcgcggccagccgggtc	13	16	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:119575804G>A	uc001ehn.2	-	6	841	c.813C>T	c.(811-813)GGC>GGT	p.G271G	WARS2_uc010oxf.1_Silent_p.G177G|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.G214G|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	271					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	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)	TGTTGGACACGCCAGCGCGGC	0.622													A	119575804	G	A	119575804	2	1	283	1	0	0	0	0	0	0	0	1	17247	1074	38	1		1	WARS2	1	119575804	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1410106	119575804	129674817	65	145347											
ZNF697	90874	broad.mit.edu	37	chr1	120165709	120165709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagaggtgcgagctgacGctgaaggtctcgccgcactc	15	11	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:120165709G>A	uc001ehy.1	-	3	1371	c.1257C>T	c.(1255-1257)AGC>AGT	p.S419S		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	419	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCGAGCTGACGCTGAAGGTCT	0.672													A	120165709	G	A	120165709	2	1	283	1	0	0	0	0	0	0	0	1	18097	1078	38	1		1	ZNF697	1	120165709	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	589905	120165709	129084912	66	145348											
NOTCH2	4853	broad.mit.edu	37	chr1	120478152	120478152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaggtcaatacaggtgcCtccattctggcagggctgat	11	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:120478152C>A	uc001eik.2	-	22	3854	c.3598G>T	c.(3598-3600)GGC>TGC	p.G1200C	NOTCH2_uc001eil.2_Missense_Mutation_p.G1200C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1200	EGF-like 31; calcium-binding (Potential).|Extracellular (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			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	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)		ATACAGGTGCCTCCATTCTGG	0.493			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				A	120478152	C	A	120478152	3	1	283	1	0	0	0	0	1	0	0	0	10548	681	24	5	3869	5	NOTCH2	1	120478152	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	312443	120478152	128772469	67	145349											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149858090	149858090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggagtagctctctttgCggctgcgcttgcgcttcttg	13	10	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:149858090C>T	uc001etc.2	-	1	143	c.101G>A	c.(100-102)CGC>CAC	p.R34H	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	34					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTCTCTTTGCGGCTGCGCTT	0.572													T	149858090	C	T	149858090	3	4	283	1	0	0	0	0	1	0	0	0	7179	768	27	1	283	1	HIST2H2BE	1	149858090	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	29379938	149858090	99392531	68	145350											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529506	150529506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccccaccccagagccccCtgtcccccagcttcagccgg	8	22	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:150529506C>T	uc001eux.2	+	11	2077	c.1841C>T	c.(1840-1842)CCT>CTT	p.P614L	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P614L|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P637L|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	614	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	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)			CCAGAGCCCCCTGTCCCCCAG	0.577													T	150529506	C	T	150529506	3	4	283	1	0	0	0	0	1	0	0	0	277	681	24	4	1875	4	ADAMTSL4	1	150529506	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	671416	150529506	98721115	69	145351											
LASS2	29956	broad.mit.edu	37	chr1	150938724	150938725	+	Frame_Shift_Del	DEL	CT	CT	-													cagcctcctccccctctgagCtctctgtttcttcccggtca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:150938724_150938725delCT	uc001evy.2	-	11	1429_1430	c.1042_1043delAG	c.(1042-1044)AGCfs	p.S348fs	LASS2_uc001evz.2_Frame_Shift_Del_p.S348fs|LASS2_uc009wmh.2_Frame_Shift_Del_p.S198fs	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	LAG1 longevity assurance 2	348	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|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)			CCCCTCTGAGCTCTCTGTTTCT	0.53													-	150938725	CT	-	150938724	7	5	283	1	0	1	0	1	0	0	0	0	8639	797	28	0	103	0	LASS2	1	150938724	Frame_Shift_Del	DEL	CT	TCGA-HU-A4H8-01A-11D-A25D-08	409218	150938724	98311897	70	145352											
TMOD4	29765	broad.mit.edu	37	chr1	151143409	151143409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgacctgattgtctacaCggagctcagtgagtgtggca	13	9	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:151143409C>T	uc001exc.3	-	8	1047	c.857G>A	c.(856-858)CGT>CAT	p.R286H	TMOD4_uc001exb.2_Missense_Mutation_p.R114H|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.R217H	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	286					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	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)			ATTGTCTACACGGAGCTCAGT	0.507													T	151143409	C	T	151143409	3	4	283	1	0	0	0	0	1	0	0	0	16233	536	19	1	192	1	TMOD4	1	151143409	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	204685	151143409	98107212	71	145353											
POGZ	23126	broad.mit.edu	37	chr1	151378254	151378254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgggccacagctcgcCgggcatggggagtcaggtgg	21	9	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:151378254C>T	uc001eyd.1	-	19	3563	c.3257G>A	c.(3256-3258)CGG>CAG	p.R1086Q	POGZ_uc001eye.1_Missense_Mutation_p.R1033Q|POGZ_uc010pdb.1_Missense_Mutation_p.R1077Q|POGZ_uc001eyf.1_Missense_Mutation_p.R1042Q|POGZ_uc010pdc.1_Missense_Mutation_p.R1024Q|POGZ_uc009wmv.1_Missense_Mutation_p.R991Q|POGZ_uc010pdd.1_Missense_Mutation_p.R577Q	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1086					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	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)			CACAGCTCGCCGGGCATGGGG	0.527													T	151378254	C	T	151378254	3	4	283	1	0	0	0	0	1	0	0	0	12186	652	23	1	979	1	POGZ	1	151378254	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	234845	151378254	97872367	72	145354											
RORC	6097	broad.mit.edu	37	chr1	151787739	151787739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggcagctgcccgtctGggagccccaaggtgtaggtg	17	12	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:151787739G>A	uc001ezh.2	-	5	569	c.461C>T	c.(460-462)CCA>CTA	p.P154L	RORC_uc001ezg.2_Missense_Mutation_p.P133L|RORC_uc010pdo.1_Missense_Mutation_p.P208L|RORC_uc010pdp.1_Missense_Mutation_p.P154L	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	154	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			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCCCGTCTGGGAGCCCCAA	0.557													A	151787739	G	A	151787739	3	1	283	1	0	0	0	0	1	0	0	0	13530	1348	47	4	1123	4	RORC	1	151787739	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	409485	151787739	97462882	73	145355											
FLG	2312	broad.mit.edu	37	chr1	152281748	152281748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgtctcctgattgttTctcattacgtgtttgtctgc	10	10	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:152281748T>C	uc001ezu.1	-	3	5650	c.5614A>G	c.(5614-5616)AAA>GAA	p.K1872E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1872	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTTCTCATTACGT	0.577									Ichthyosis				C	152281748	T	C	152281748	3	2	283	1	0	0	0	0	1	0	0	0	5922	1792	62	3	6575	3	FLG	1	152281748	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	494009	152281748	96968873	74	145356											
INTS3	65123	broad.mit.edu	37	chr1	153723704	153723704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacttctgcatctcactgCttcgggaacgggtgagggaa	13	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:153723704C>T	uc009wom.2	+	8	939	c.718C>T	c.(718-720)CTT>TTT	p.L240F	INTS3_uc001fct.2_Missense_Mutation_p.L240F|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Missense_Mutation_p.L34F|INTS3_uc010peb.1_Missense_Mutation_p.L34F|INTS3_uc001fcw.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	241					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	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)			CATCTCACTGCTTCGGGAACG	0.527													T	153723704	C	T	153723704	3	4	283	1	0	0	0	0	1	0	0	0	7779	797	28	2	744	2	INTS3	1	153723704	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1441956	153723704	95526917	75	145357											
TPM3	7170	broad.mit.edu	37	chr1	154145590	154145590	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctatctgcctcttctgcAatgtgcttagcttctttgag	7	11	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:154145590A>G	uc001fec.1	-	4	580	c.465T>C	c.(463-465)ATT>ATC	p.I155I	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Silent_p.I28I|TPM3_uc001fdy.1_Silent_p.I118I|TPM3_uc001fdz.1_Silent_p.I118I|TPM3_uc001fea.1_Silent_p.I118I|TPM3_uc001feb.1_Silent_p.I118I|TPM3_uc010pej.1_Silent_p.I51I|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.I118I	NM_152263	NP_689476	P06753	TPM3_HUMAN	tropomyosin 3 isoform 1	154	By similarity.				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTCTTCTGCAATGTGCTTAG	0.423			T	NTRK1|ALK	papillary thyroid|ALCL								G	154145590	A	G	154145590	2	3	283	1	0	0	0	0	0	0	0	1	16404	126	5	3		3	TPM3	1	154145590	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	421886	154145590	95105031	76	145358											
PYGO2	90780	broad.mit.edu	37	chr1	154932028	154932028	+	Frame_Shift_Del	DEL	G	G	-													gggtgggtagccaggaccctGggggggcatgttgaaagcag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:154932027_154932027TG>T	uc001fft.3	-	2	655	c.449_449CA>A	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCAT	0.622													-	154932028	G	-	154932028	7	5	283	1	0	1	0	1	0	0	0	0	12864	1357	47	0	776	0	PYGO2	1	154932028	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	786438	154932028	94318593	77	145359											
THBS3	7059	broad.mit.edu	37	chr1	155175055	155175055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagccaggcccgcttgCtgtaggttcacggcgtggac	13	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:155175055C>T	uc001fix.2	-	3	362	c.339G>A	c.(337-339)CAG>CAA	p.Q113Q	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.Q113Q|THBS3_uc001fiz.2_Silent_p.Q113Q|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Intron|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA|THBS3_uc009wqj.1_Silent_p.Q75Q	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	113	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	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)			GGCCCGCTTGCTGTAGGTTCA	0.632													T	155175055	C	T	155175055	2	4	283	1	0	0	0	0	0	0	0	1	15852	796	28	2		2	THBS3	1	155175055	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	243027	155175055	94075566	78	145360											
PMF1	11243	broad.mit.edu	37	chr1	156206136	156206136	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatggcaccctacttcctGcagcaacgggacaccctgcg	10	15	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:156206136G>A	uc001fnq.2	+	4	449	c.426G>A	c.(424-426)CTG>CTA	p.L142L	PMF1_uc001fnr.2_Intron|BGLAP_uc001fns.1_Intron	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	142	Potential.				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					CCTACTTCCTGCAGCAACGGG	0.652													A	156206136	G	A	156206136	2	1	283	1	0	0	0	0	0	0	0	1	12133	1306	46	2		2	PMF1	1	156206136	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1031081	156206136	93044485	79	145361											
PMF1	11243	broad.mit.edu	37	chr1	156206232	156206232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcggaggcaggtggaGgagctgcagctacaggtcca	19	9	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:156206232G>T	uc001fnq.2	+	4	545	c.522G>T	c.(520-522)GAG>GAT	p.E174D	PMF1_uc001fnr.2_Missense_Mutation_p.R154M|BGLAP_uc001fns.1_Intron	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	174	Potential.				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					GGCAGGTGGAGGAGCTGCAGC	0.652													T	156206232	G	T	156206232	3	4	283	1	0	0	0	0	1	0	0	0	12133	991	35	5	536	5	PMF1	1	156206232	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	96	156206232	93044389	80	145362											
TMEM79	84283	broad.mit.edu	37	chr1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C													cgagtgccgaaccttcatgcINSccccccgggtcacccacccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:156255497_156255498G>GC	uc010phi.2	+	1	676_677	c.480_481G>GC	c.(478-483)atgcccfs	p.M160fs	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_Frame_Shift_Ins_p.M1fs|TMEM79_uc009wrw.3_Frame_Shift_Ins_p.M160fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	160						integral to membrane		p.R163fs*17(1)		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)					GAACCTTCATGCCCCCCCGGGT	0.658													C	156255499	-	C	156255498	7	5	283	1	0	1	1	0	0	0	0	0	16200	739	26	0	483	0	TMEM79	1	156255498	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	49266	156255498	92995123	81	145363											
ARHGEF11	9826	broad.mit.edu	37	chr1	156926334	156926334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatggctcatgtaggtatTgagggcgaagtccatggggg	17	6	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:156926334T>C	uc001fqo.2	-	18	2469	c.1429A>G	c.(1429-1431)AAT>GAT	p.N477D	ARHGEF11_uc001fqn.2_Missense_Mutation_p.N517D|ARHGEF11_uc001fqp.1_Missense_Mutation_p.N6D	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	477	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGTAGGTATTGAGGGCGAAG	0.532													C	156926334	T	C	156926334	3	2	283	1	0	0	0	0	1	0	0	0	896	1812	63	3	3231	3	ARHGEF11	1	156926334	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	670836	156926334	92324287	82	145364											
OR6K6	128371	broad.mit.edu	37	chr1	158724836	158724836	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctaataatgttcattgtcatCcaggtgggcatggccctgca	10	10	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:158724836C>A	uc001fsw.1	+	1	231	c.231C>A	c.(229-231)ATC>ATA	p.I77I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	77	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TCATTGTCATCCAGGTGGGCA	0.473													A	158724836	C	A	158724836	2	1	283	1	0	0	0	0	0	0	0	1	11204	845	30	5		5	OR6K6	1	158724836	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1798502	158724836	90525785	83	145365											
CCDC19	25790	broad.mit.edu	37	chr1	159846512	159846512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactctctgtctgcaacctCctggttgcgcttggcccgca	9	17	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:159846512C>T	uc001fui.2	-	10	1204	c.1186G>A	c.(1186-1188)GAG>AAG	p.E396K	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E311K|CCDC19_uc001ful.2_Missense_Mutation_p.E311K|CCDC19_uc009wtc.1_Missense_Mutation_p.G395E	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	396	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGCAACCTCCTGGTTGCGC	0.537													T	159846512	C	T	159846512	3	4	283	1	0	0	0	0	1	0	0	0	2795	864	30	4	481	4	CCDC19	1	159846512	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1121676	159846512	89404109	84	145366											
ATP1A4	480	broad.mit.edu	37	chr1	160143949	160143949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagaactgaaggacatacaGtccaagcagcttgatcagat	10	9	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:160143949G>C	uc001fve.3	+	14	2519	c.2040G>C	c.(2038-2040)CAG>CAC	p.Q680H	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q183H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	680	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			aggacatacagtccaagcagc	0.199													C	160143949	G	C	160143949	3	2	283	1	0	0	0	0	1	0	0	0	1131	1020	36	5	2094	5	ATP1A4	1	160143949	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	297437	160143949	89106672	85	145367											
PPOX	5498	broad.mit.edu	37	chr1	161136683	161136683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaggcatcagcggcttgGccgccagttaccacctgagc	14	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:161136683G>A	uc001fyj.2	+	2	336	c.46G>A	c.(46-48)GCC>ACC	p.A16T	PPOX_uc001fyn.2_Missense_Mutation_p.A16T|PPOX_uc001fyg.2_Missense_Mutation_p.A16T|PPOX_uc001fyl.2_5'UTR|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Missense_Mutation_p.A16T|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	16					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGCGGCTTGGCCGCCAGTTA	0.632									Porphyria_Variegata				A	161136683	G	A	161136683	3	1	283	1	0	0	0	0	1	0	0	0	12348	1203	42	2	48	2	PPOX	1	161136683	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	992734	161136683	88113938	86	145368											
HSPA6	3310	broad.mit.edu	37	chr1	161495244	161495244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgccctgcgcaggctgCgcacagcctgtgagcgcgcc	15	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:161495244C>T	uc001gap.2	+	2	1456	c.796C>T	c.(796-798)CGC>TGC	p.R266C	HSPA6_uc001gaq.2_Missense_Mutation_p.R266C	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	266					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGCAGGCTGCGCACAGCCTG	0.622													T	161495244	C	T	161495244	3	4	283	1	0	0	0	0	1	0	0	0	7415	768	27	1	798	1	HSPA6	1	161495244	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	358561	161495244	87755377	87	145369											
RCSD1	92241	broad.mit.edu	37	chr1	167654689	167654689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaccaacccgaaggaaacCgccctgttccctccccctgt	6	18	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:167654689C>T	uc001gem.2	+	3	327	c.140C>T	c.(139-141)CCG>CTG	p.P47L	RCSD1_uc010pli.1_Intron	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	47										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					CGAAGGAAACCGCCCTGTTCC	0.577													T	167654689	C	T	167654689	3	4	283	1	0	0	0	0	1	0	0	0	13185	652	23	1	150	1	RCSD1	1	167654689	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6159445	167654689	81595932	88	145370											
GPR161	23432	broad.mit.edu	37	chr1	168054942	168054942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaataagttgattttggcttCggcctcaatggctttggcca	10	8	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:168054942C>T	uc001gfc.2	-	8	1731	c.1417G>A	c.(1417-1419)GAA>AAA	p.E473K	GPR161_uc001gfb.2_Missense_Mutation_p.E341K|GPR161_uc010pll.1_Missense_Mutation_p.E383K|GPR161_uc010plm.1_Missense_Mutation_p.E359K|GPR161_uc009wvo.2_Missense_Mutation_p.E490K|GPR161_uc001gfd.2_Missense_Mutation_p.E473K|GPR161_uc010pln.1_Missense_Mutation_p.E493K	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	473	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					ATTTTGGCTTCGGCCTCAATG	0.567													T	168054942	C	T	168054942	3	4	283	1	0	0	0	0	1	0	0	0	6665	893	31	1	176	1	GPR161	1	168054942	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	400253	168054942	81195679	89	145371											
KIFAP3	22920	broad.mit.edu	37	chr1	169923216	169923216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtaatcattgaagaaatCgggacttatggctccttcag	11	7	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:169923216C>T	uc001ggv.2	-	19	2480	c.2209G>A	c.(2209-2211)GAT>AAT	p.D737N	KIFAP3_uc010plx.1_Missense_Mutation_p.D439N	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	737					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			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGAAGAAATCGGGACTTATG	0.363													T	169923216	C	T	169923216	3	4	283	1	0	0	0	0	1	0	0	0	8311	884	31	1	177	1	KIFAP3	1	169923216	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1868274	169923216	79327405	90	145372											
FMO2	2327	broad.mit.edu	37	chr1	171173044	171173044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacctgggtcatgagccGtatctctgaagatggctatc	12	10	2	3	rs147227176	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:171173044G>A	uc001ghk.1	+	6	785	c.668G>A	c.(667-669)CGT>CAT	p.R223H	FMO2_uc010pmd.1_Missense_Mutation_p.R3H	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	223					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCATGAGCCGTATCTCTGAA	0.468													A	171173044	G	A	171173044	3	1	283	1	0	0	0	0	1	0	0	0	5955	1145	40	1	686	1	FMO2	1	171173044	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1249828	171173044	78077577	91	145373											
BAT2L2	23215	broad.mit.edu	37	chr1	171501615	171501615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttctgcagcagtagaacGtgctcgtaaacggcgtgaag	12	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:171501615G>A	uc010pmg.1	+	12	1648	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	BAT2L2_uc001ghr.1_Missense_Mutation_p.R463H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	461							protein C-terminus binding				0						GCAGTAGAACGTGCTCGTAAA	0.473													A	171501615	G	A	171501615	3	1	283	1	0	0	0	0	1	0	0	0	1321	1145	40	1	1424	1	BAT2L2	1	171501615	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	328571	171501615	77749006	92	145374											
PRDX6	9588	broad.mit.edu	37	chr1	173454570	173454570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatcgatgataggaatcGggagcttgccatcctgttgg	12	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:173454570G>A	uc001giy.1	+	3	374	c.323G>A	c.(322-324)CGG>CAG	p.R108Q		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	108	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						GATAGGAATCGGGAGCTTGCC	0.448													A	173454570	G	A	173454570	3	1	283	1	0	0	0	0	1	0	0	0	12469	1116	39	1	333	1	PRDX6	1	173454570	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1952955	173454570	75796051	93	145375											
CEP350	9857	broad.mit.edu	37	chr1	180022186	180022186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatagaagaacaatcatttcGatcattactaccttcagaga	5	8	3	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:180022186G>A	uc001gnt.2	+	23	5257	c.4874G>A	c.(4873-4875)CGA>CAA	p.R1625Q	CEP350_uc009wxl.2_Missense_Mutation_p.R1624Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1625						centrosome|nucleus|spindle				ovary(4)	4						CAATCATTTCGATCATTACTA	0.353													A	180022186	G	A	180022186	3	1	283	1	0	0	0	0	1	0	0	0	3254	1058	37	1	4960	1	CEP350	1	180022186	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6567616	180022186	69228435	94	145376											
KIAA1614	57710	broad.mit.edu	37	chr1	180904929	180904929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccgacagtgaggaggcGgggacctctcaggctggctg	18	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:180904929G>A	uc001gok.2	+	5	1951	c.1884G>A	c.(1882-1884)GCG>GCA	p.A628A	KIAA1614_uc001gol.1_Silent_p.A249A|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	628										ovary(3)|skin(1)	4						GTGAGGAGGCGGGGACCTCTC	0.667													A	180904929	G	A	180904929	2	1	283	1	0	0	0	0	0	0	0	1	8248	1103	39	1		1	KIAA1614	1	180904929	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	882743	180904929	68345692	95	145377											
ZNF648	127665	broad.mit.edu	37	chr1	182026330	182026330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgcttggcggcgccgccGcgcgtctccgcggggctcag	17	16	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:182026330G>A	uc001goz.2	-	2	1024	c.816C>T	c.(814-816)CGC>CGT	p.R272R		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGGCGCCGCCGCGCGTCTCCG	0.751													A	182026330	G	A	182026330	2	1	283	1	0	0	0	0	0	0	0	1	18060	1074	38	1		1	ZNF648	1	182026330	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1121401	182026330	67224291	96	145378											
ZNF648	127665	broad.mit.edu	37	chr1	182026596	182026596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagagaagagttccctgCggacgtgtctacacttttgt	10	10	1	2	rs146081397	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:182026596C>T	uc001goz.2	-	2	758	c.550G>A	c.(550-552)GCA>ACA	p.A184T		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAGTTCCCTGCGGACGTGTCT	0.592													T	182026596	C	T	182026596	3	4	283	1	0	0	0	0	1	0	0	0	18060	768	27	1	1160	1	ZNF648	1	182026596	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	266	182026596	67224025	97	145379											
NCF2	4688	broad.mit.edu	37	chr1	183559420	183559420	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtccttcttgtccgctgcCagcaccccttcattccagag	7	17	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:183559420C>A	uc001gqj.3	-	1	320	c.45G>T	c.(43-45)CTG>CTT	p.L15L	NCF2_uc010pod.1_Silent_p.L15L|NCF2_uc010poe.1_Silent_p.L15L|NCF2_uc001gqk.3_Silent_p.L15L	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	15					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						TGTCCGCTGCCAGCACCCCTT	0.567													A	183559420	C	A	183559420	2	1	283	1	0	0	0	0	0	0	0	1	10217	581	21	5		5	NCF2	1	183559420	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1532824	183559420	65691201	98	145380											
HMCN1	83872	broad.mit.edu	37	chr1	185958749	185958749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaatacagccggctacGccaaaaggaaagtgcagcta	9	13	0	0	rs149692259	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:185958749G>A	uc001grq.1	+	21	3407	c.3178G>A	c.(3178-3180)GCC>ACC	p.A1060T	HMCN1_uc001grr.1_Missense_Mutation_p.A401T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1060	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGCCGGCTACGCCAAAAGGAA	0.483													A	185958749	G	A	185958749	3	1	283	1	0	0	0	0	1	0	0	0	7220	1087	38	1	3260	1	HMCN1	1	185958749	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2399329	185958749	63291872	99	145381											
HMCN1	83872	broad.mit.edu	37	chr1	186114581	186114581	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctggggaacatgcagccgGacgtgtaacggagggcagat	18	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:186114581G>A	uc001grq.1	+	92	14542	c.14313G>A	c.(14311-14313)CGG>CGA	p.R4771R	HMCN1_uc001grs.1_Silent_p.R340R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4771	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CATGCAGCCGGACGTGTAACG	0.547													A	186114581	G	A	186114581	2	1	283	1	0	0	0	0	0	0	0	1	7220	1161	41	4		4	HMCN1	1	186114581	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	155832	186114581	63136040	100	145382											
HMCN1	83872	broad.mit.edu	37	chr1	186147634	186147634	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtgtatctgtccaccaGgacaacatttattaggggac	9	9	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:186147634G>T	uc001grq.1	+	104	16259	c.16030G>T	c.(16030-16032)GGA>TGA	p.G5344*	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5344	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTGTCCACCAGGACAACATTT	0.488													T	186147634	G	T	186147634	4	4	283	1	0	0	0	0	0	1	0	0	7220	1001	35	5	16444	5	HMCN1	1	186147634	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	33053	186147634	63102987	101	145383											
PRG4	10216	broad.mit.edu	37	chr1	186277217	186277217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaactaccctcaaggaacCtgcacccactactcccaaga	4	18	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:186277217C>A	uc001gru.3	+	7	2417	c.2366C>A	c.(2365-2367)CCT>CAT	p.P789H	PRG4_uc001grt.3_Missense_Mutation_p.P748H|PRG4_uc009wyl.2_Missense_Mutation_p.P696H|PRG4_uc009wym.2_Missense_Mutation_p.P655H|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	789	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|52.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTCAAGGAACCTGCACCCACT	0.597													A	186277217	C	A	186277217	3	1	283	1	0	0	0	0	1	0	0	0	12481	681	24	5	2388	5	PRG4	1	186277217	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	129583	186277217	62973404	102	145384											
KCNT2	343450	broad.mit.edu	37	chr1	196392226	196392226	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctactgagaataaaacagGcctcagcgtcatccatccta	8	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:196392226G>C	uc001gtd.1	-	12	1199	c.1139C>G	c.(1138-1140)GCC>GGC	p.A380G	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.A380G|KCNT2_uc001gtf.1_Missense_Mutation_p.A380G|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.A380G|KCNT2_uc009wyv.1_Missense_Mutation_p.A355G	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	380	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AATAAAACAGGCCTCAGCGTC	0.338													C	196392226	G	C	196392226	3	2	283	1	0	0	0	0	1	0	0	0	8092	1203	42	5	2336	5	KCNT2	1	196392226	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	10115009	196392226	52858395	103	145385											
GPR25	2848	broad.mit.edu	37	chr1	200843191	200843191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcgctctccagggaCgacagttccgtgttccgttg	11	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:200843191C>T	uc001gvn.1	+	1	1026	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	342	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						TCTCCAGGGACGACAGTTCCG	0.736													T	200843191	C	T	200843191	2	4	283	1	0	0	0	0	0	0	0	1	6683	535	19	1		1	GPR25	1	200843191	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4450965	200843191	48407430	104	145386											
CACNA1S	779	broad.mit.edu	37	chr1	201013510	201013510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggctctctccagctcctcCtcagcagccaggtctcctga	8	17	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:201013510C>A	uc001gvv.2	-	39	4970	c.4743G>T	c.(4741-4743)GAG>GAT	p.E1581D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1581	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGCTCCTCCTCAGCAGCCA	0.612													A	201013510	C	A	201013510	3	1	283	1	0	0	0	0	1	0	0	0	2547	680	24	5	902	5	CACNA1S	1	201013510	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	170319	201013510	48237111	105	145387											
IPO9	55705	broad.mit.edu	37	chr1	201827617	201827617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaagtgcagcagccctgGctgctgcagccactcgacat	11	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:201827617G>A	uc001gwz.2	+	12	1314	c.1264G>A	c.(1264-1266)GCT>ACT	p.A422T		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	422					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						AGCAGCCCTGGCTGCTGCAGC	0.443													A	201827617	G	A	201827617	3	1	283	1	0	0	0	0	1	0	0	0	7799	1203	42	2	1310	2	IPO9	1	201827617	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	814107	201827617	47423004	106	145388											
FMOD	2331	broad.mit.edu	37	chr1	203316600	203316601	+	Frame_Shift_Ins	INS	-	-	C													acatacagcagcttgggcgcINScccccggaagtagctatcgg					rs139730140	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:203316599_203316600G>GC	uc001gzr.3	-	1	935_936	c.799_800C>GC	c.(799-801)gcgfs	p.A267fs		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	267					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)			CAGCTTGGGCGCCCCCCGGAAG	0.579													C	203316601	-	C	203316600	7	5	283	1	0	1	1	0	0	0	0	0	5959	739	26	0	339	0	FMOD	1	203316600	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1488983	203316600	45934021	107	145389											
CNTN2	6900	broad.mit.edu	37	chr1	205030396	205030396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccccggatcaagtggcGcaaagtggacggctccctgt	13	13	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:205030396G>A	uc001hbr.2	+	8	1090	c.821G>A	c.(820-822)CGC>CAC	p.R274H	CNTN2_uc001hbq.1_Missense_Mutation_p.R165H|CNTN2_uc009xbi.2_Missense_Mutation_p.R165H|CNTN2_uc001hbs.2_Missense_Mutation_p.R62H	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	274	Ig-like C2-type 3.				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			ovary(1)	1	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)			ATCAAGTGGCGCAAAGTGGAC	0.647											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	205030396	G	A	205030396	3	1	283	1	0	0	0	0	1	0	0	0	3641	1087	38	1	847	1	CNTN2	1	205030396	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1713796	205030396	44220225	108	145390											
IKBKE	9641	broad.mit.edu	37	chr1	206650040	206650040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcccgacatgtatgagcGggcggtgcttcgaaagcccc	13	13	0	1	rs145501152	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:206650040G>A	uc001hdz.1	+	7	928	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	IKBKE_uc009xbu.1_Missense_Mutation_p.R187Q|IKBKE_uc009xbv.1_Missense_Mutation_p.R187Q|IKBKE_uc001hea.1_Missense_Mutation_p.R102Q	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	187	Protein kinase.			R -> Q (in Ref. 7; AAI05925).	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			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					ATGTATGAGCGGGCGGTGCTT	0.617													A	206650040	G	A	206650040	3	1	283	1	0	0	0	0	1	0	0	0	7612	1116	39	1	578	1	IKBKE	1	206650040	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1619644	206650040	42600581	109	145391											
CAMK1G	57172	broad.mit.edu	37	chr1	209785458	209785458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcaggggtccctggccGccgggccctgtggctgctgc	16	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:209785458G>A	uc001hhd.2	+	11	1339	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	CAMK1G_uc001hhf.3_Missense_Mutation_p.A413T|CAMK1G_uc001hhe.2_Missense_Mutation_p.A413T	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	413						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GTCCCTGGCCGCCGGGCCCTG	0.622													A	209785458	G	A	209785458	3	1	283	1	0	0	0	0	1	0	0	0	2598	1087	38	1	1275	1	CAMK1G	1	209785458	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3135418	209785458	39465163	110	145392											
KCNH1	3756	broad.mit.edu	37	chr1	210857408	210857408	+	Frame_Shift_Del	DEL	G	G	-													gtggtccgggggcaagatcaGgggggcctcattctttcgtt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:210857408delG	uc001hib.2	-	11	2355	c.2185delC	c.(2185-2187)CTGfs	p.L729fs	KCNH1_uc001hic.2_Frame_Shift_Del_p.L702fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	729	Cytoplasmic (Potential).|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			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGCAAGATCAGGGGGGCCTCA	0.572													-	210857408	G	-	210857408	7	5	283	1	0	1	0	1	0	0	0	0	8031	991	35	0	788	0	KCNH1	1	210857408	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1071950	210857408	38393213	111	145393											
PROX1	5629	broad.mit.edu	37	chr1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-													tgaaaaaagcaaagctcatgTttttttatacccgttatccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:214178556delT	uc001hkh.2	+	3	2046	c.1774delT	c.(1774-1776)TTTfs	p.F592fs		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	592	Prospero-type homeobox.				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			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAAGCTCATGTTTTTTTATAC	0.383													-	214178556	T	-	214178556	7	5	283	1	0	1	0	1	0	0	0	0	12560	1725	60	0	1780	0	PROX1	1	214178556	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	3321148	214178556	35072065	112	145394											
PTPN14	5784	broad.mit.edu	37	chr1	214557451	214557451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacttgtggcggtggctggCcaggtctggggtgctggtgg	21	7	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:214557451C>T	uc001hkk.1	-	13	2018	c.1747G>A	c.(1747-1749)GCC>ACC	p.A583T	PTPN14_uc010pty.1_Missense_Mutation_p.A484T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	583					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGGTGGCTGGCCAGGTCTGGG	0.637													T	214557451	C	T	214557451	3	4	283	1	0	0	0	0	1	0	0	0	12783	739	26	2	1844	2	PTPN14	1	214557451	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	378895	214557451	34693170	113	145395											
CAPN2	824	broad.mit.edu	37	chr1	223934727	223934727	+	Frame_Shift_Del	DEL	G	G	-													gatgctatgaagcgctatcaGggggtgccaccactgagggc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:223934726_223934726AG>A	uc001hob.4	+	4	812	c.588_588AG>A	c.(586-588)tcafs	p.S196fs	CAPN2_uc010puy.2_Frame_Shift_Del_p.S118fs	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	196	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AAGCGCTATCAGGGGGTGCCA	0.532													-	223934727	G	-	223934727	7	5	283	1	0	1	0	1	0	0	0	0	2627	1000	35	0	614	0	CAPN2	1	223934727	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	9377276	223934727	25315894	114	145396											
OBSCN	84033	broad.mit.edu	37	chr1	228400402	228400402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaagcagtcggaccgCggcctctacacctgcacggc	11	16	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:228400402C>T	uc009xez.1	+	2	962	c.918C>T	c.(916-918)CGC>CGT	p.R306R	OBSCN_uc001hsn.2_Silent_p.R306R|uc001hsm.1_RNA	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	306	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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTCGGACCGCGGCCTCTACA	0.682													T	228400402	C	T	228400402	2	4	283	1	0	0	0	0	0	0	0	1	10812	755	27	1		1	OBSCN	1	228400402	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4465675	228400402	20850219	115	145397											
OBSCN	84033	broad.mit.edu	37	chr1	228412271	228412271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccagacggaggtgaCgtggtacaaggatgggaaga	17	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:228412271C>T	uc009xez.1	+	9	2809	c.2765C>T	c.(2764-2766)ACG>ATG	p.T922M	OBSCN_uc001hsn.2_Missense_Mutation_p.T922M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	922	Ig-like 9.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACGGAGGTGACGTGGTACAAG	0.642													T	228412271	C	T	228412271	3	4	283	1	0	0	0	0	1	0	0	0	10812	536	19	1	2795	1	OBSCN	1	228412271	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	11869	228412271	20838350	116	145398											
OBSCN	84033	broad.mit.edu	37	chr1	228482038	228482038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgagctgcagatccgtGgcctggctgtggtggatgcc	18	9	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:228482038G>T	uc009xez.1	+	42	11361	c.11317G>T	c.(11317-11319)GGC>TGC	p.G3773C	OBSCN_uc001hsn.2_Missense_Mutation_p.G3773C|OBSCN_uc001hsq.1_Missense_Mutation_p.G1029C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3773	Ig-like 38.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCAGATCCGTGGCCTGGCTGT	0.627													T	228482038	G	T	228482038	3	4	283	1	0	0	0	0	1	0	0	0	10812	1348	47	5	11479	5	OBSCN	1	228482038	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	69767	228482038	20768583	117	145399											
NUP133	55746	broad.mit.edu	37	chr1	229599315	229599315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaactgggtcatgtagCgctggagtcggctctggttg	15	9	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:229599315C>T	uc001htn.2	-	19	2752	c.2660G>A	c.(2659-2661)CGC>CAC	p.R887H		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	887					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			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTCATGTAGCGCTGGAGTCG	0.473													T	229599315	C	T	229599315	3	4	283	1	0	0	0	0	1	0	0	0	10754	768	27	1	842	1	NUP133	1	229599315	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1117277	229599315	19651306	118	145400											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgctgacaattccaagggCgaatgcccctctccagtcgg	10	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:232650124C>T	uc001hvg.2	-	1	1120	c.962G>A	c.(961-963)CGC>CAC	p.R321H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	321					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTCCAAGGGCGAATGCCCCT	0.468													T	232650124	C	T	232650124	3	4	283	1	0	0	0	0	1	0	0	0	14330	768	27	1	4290	1	SIPA1L2	1	232650124	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3050809	232650124	16600497	119	145401											
RBM34	23029	broad.mit.edu	37	chr1	235323947	235323948	+	Frame_Shift_Ins	INS	-	-	T													tcctcctcattccgtttcgtINSttttttgatggtttgctttt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:235323946_235323947G>GT	uc001hwn.3	-	2	475_476	c.244_245C>AC	c.(244-246)acgfs	p.T82fs	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Frame_Shift_Ins_p.T82fs	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	82						nucleolus	RNA binding|nucleotide 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)			ATTCCGTTTCGTTTTTTTGATG	0.371													T	235323948	-	T	235323947	7	5	283	1	0	1	1	0	0	0	0	0	13131	1725	60	0	1105	0	RBM34	1	235323947	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	2673823	235323947	13926674	120	145402											
LYST	1130	broad.mit.edu	37	chr1	235922666	235922666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagctactgatgaatgCgtcctctttgccttttttca	6	12	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:235922666C>T	uc001hxj.2	-	23	6662	c.6487G>A	c.(6487-6489)GCA>ACA	p.A2163T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2163					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			ovary(6)|breast(4)|central_nervous_system(2)	12	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)			CTGATGAATGCGTCCTCTTTG	0.453									Chediak-Higashi_syndrome				T	235922666	C	T	235922666	3	4	283	1	0	0	0	0	1	0	0	0	9128	768	27	1	5042	1	LYST	1	235922666	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	598719	235922666	13327955	121	145403											
RYR2	6262	broad.mit.edu	37	chr1	237617717	237617717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctctcagcaagaaagCgaaggcttccacagtcgatt	10	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:237617717C>T	uc001hyl.1	+	15	1439	c.1319C>T	c.(1318-1320)GCG>GTG	p.A440V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	440	Cytoplasmic (By similarity).				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AGCAAGAAAGCGAAGGCTTCC	0.403													T	237617717	C	T	237617717	3	4	283	1	0	0	0	0	1	0	0	0	13769	768	27	1	1377	1	RYR2	1	237617717	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1695051	237617717	11632904	122	145404											
RYR2	6262	broad.mit.edu	37	chr1	237870524	237870524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatattgaaaatcatatatAataacttggggattgatgag	8	3	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:237870524A>G	uc001hyl.1	+	68	9976	c.9856A>G	c.(9856-9858)AAT>GAT	p.N3286D	RYR2_uc010pxz.1_Missense_Mutation_p.N241D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3286					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AATCATATATAATAACTTGGG	0.438													G	237870524	A	G	237870524	3	3	283	1	0	0	0	0	1	0	0	0	13769	362	13	3	10126	3	RYR2	1	237870524	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	252807	237870524	11380097	123	145405											
FMN2	56776	broad.mit.edu	37	chr1	240497412	240497412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttttgttcattaggatGctggaaaagaacagtgcctc	11	6	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:240497412G>A	uc010pyd.1	+	13	4873	c.4648G>A	c.(4648-4650)GCT>ACT	p.A1550T	FMN2_uc010pye.1_Missense_Mutation_p.A1554T|FMN2_uc010pyf.1_Missense_Mutation_p.A196T|FMN2_uc010pyg.1_Missense_Mutation_p.A146T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1550	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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCATTAGGATGCTGGAAAAGA	0.343													A	240497412	G	A	240497412	3	1	283	1	0	0	0	0	1	0	0	0	5950	1319	46	2	4698	2	FMN2	1	240497412	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2626888	240497412	8753209	124	145406											
CEP170	9859	broad.mit.edu	37	chr1	243303329	243303329	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggatcaccagatcgaccgttGtttccttctggtgttttgga	11	9	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:243303329G>C	uc001hzs.2	-	16	4548	c.4140C>G	c.(4138-4140)AAC>AAG	p.N1380K	CEP170_uc001hzt.2_Missense_Mutation_p.N1256K|CEP170_uc001hzu.2_Missense_Mutation_p.N1282K|CEP170_uc001hzr.2_5'UTR|CEP170_uc001hzv.1_Missense_Mutation_p.N732K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1380	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	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)			ATCGACCGTTGTTTCCTTCTG	0.453													C	243303329	G	C	243303329	3	2	283	1	0	0	0	0	1	0	0	0	3250	1368	48	5	634	5	CEP170	1	243303329	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2805917	243303329	5947292	125	145407											
SDCCAG8	10806	broad.mit.edu	37	chr1	243468023	243468023	+	Frame_Shift_Del	DEL	A	A	-													tcttttctataggagaagctAaaacttacttatgaggaaaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:243468023delA	uc001hzw.2	+	7	840	c.684delA	c.(682-684)CTAfs	p.L228fs	SDCCAG8_uc010pyk.1_Frame_Shift_Del_p.L83fs|SDCCAG8_uc010pyl.1_Frame_Shift_Del_p.L40fs|SDCCAG8_uc001hzx.2_Frame_Shift_Del_p.L40fs|SDCCAG8_uc001hzy.1_Frame_Shift_Del_p.L76fs	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	228	Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	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)		AGGAGAAGCTAAAACTTACTT	0.254													-	243468023	A	-	243468023	7	5	283	1	0	1	0	1	0	0	0	0	13959	349	13	0	710	0	SDCCAG8	1	243468023	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	164694	243468023	5782598	126	145408											
CNST	163882	broad.mit.edu	37	chr1	246755193	246755193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggacaaaaaaattcctgGaaaaagaagtccaagaagca	8	6	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:246755193G>A	uc001ibp.2	+	2	707	c.329G>A	c.(328-330)GGA>GAA	p.G110E	CNST_uc001ibo.3_Missense_Mutation_p.G110E	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	110					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AAAATTCCTGGAAAAAGAAGT	0.388													A	246755193	G	A	246755193	3	1	283	1	0	0	0	0	1	0	0	0	3634	1174	41	4	331	4	CNST	1	246755193	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3287170	246755193	2495428	127	145409											
TRIM58	25893	broad.mit.edu	37	chr1	248020689	248020689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagttctgcgagaagtcGgacggcgcgcagggcggcgt	18	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:248020689G>A	uc001ido.2	+	1	189	c.141G>A	c.(139-141)TCG>TCA	p.S47S		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	47	RING-type.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCGAGAAGTCGGACGGCGCGC	0.711													A	248020689	G	A	248020689	2	1	283	1	0	0	0	0	0	0	0	1	16528	1103	39	1		1	TRIM58	1	248020689	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1265496	248020689	1229932	128	145410											
ZNF672	79894	broad.mit.edu	37	chr1	249142519	249142519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgcggcaagcggttcaCgtgcgtgtccaatctcaacg	12	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr1:249142519C>T	uc001iex.2	+	4	1741	c.1046C>T	c.(1045-1047)ACG>ATG	p.T349M		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	349	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			AAGCGGTTCACGTGCGTGTCC	0.657													T	249142519	C	T	249142519	3	4	283	1	0	0	0	0	1	0	0	0	18076	536	19	1	1048	1	ZNF672	1	249142519	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1121830	249142519	108102	129	145411											
PXDN	7837	broad.mit.edu	37	chr2	1652363	1652363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgcggtggcgaaggcGttgaagatgccagcattgat	16	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:1652363G>A	uc002qxa.2	-	17	3253	c.3189C>T	c.(3187-3189)AAC>AAT	p.N1063N		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1063					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			pancreas(6)|ovary(2)	8	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)		TGGCGAAGGCGTTGAAGATGC	0.612													A	1652363	G	A	1652363	2	1	283	1	0	0	0	0	0	0	0	1	12847	1136	40	1		1	PXDN	2	1652363	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08		1652363	241547010	130	145412											
TTC15	51112	broad.mit.edu	37	chr2	3405588	3405588	+	Frame_Shift_Del	DEL	A	A	-													gatgcttcgctttctgggtgAaaaagctgcagcaaagagac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:3405588delA	uc002qxm.1	+	3	1294	c.1088delA	c.(1087-1089)GAAfs	p.E363fs	TTC15_uc002qxn.1_Frame_Shift_Del_p.E363fs|TTC15_uc010ewm.1_Frame_Shift_Del_p.E363fs	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	363							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		TTTCTGGGTGAAAAAGCTGCA	0.383													-	3405588	A	-	3405588	7	5	283	1	0	1	0	1	0	0	0	0	16679	246	9	0	1094	0	TTC15	2	3405588	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	1753225	3405588	239793785	131	145413											
GREB1	9687	broad.mit.edu	37	chr2	11706699	11706699	+	Frame_Shift_Del	DEL	C	C	-													tctcctcgtgggggtcaagtCccccagcctgccggaccatc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:11706698_11706698TC>T	uc002rbk.1	+	3	670	c.370_370TC>T	c.(370-372)tccfs	p.S124fs	GREB1_uc002rbl.3_Frame_Shift_Del_p.S124fs|GREB1_uc002rbm.3_Frame_Shift_Del_p.S14fs|GREB1_uc002rbn.1_Frame_Shift_Del_p.S124fs	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	124						integral to membrane		p.K123N(1)|p.S124Y(1)		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)		GGGGGTCAAGTCCCCCAGCCT	0.582													-	11706699	C	-	11706699	7	5	283	1	0	1	0	1	0	0	0	0	6760	855	30	0	381	0	GREB1	2	11706699	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	8301111	11706699	231492674	132	145414											
NBAS	51594	broad.mit.edu	37	chr2	15326941	15326941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattccccaatccttccttGttctccatcgtacatctggt	4	15	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:15326941G>T	uc002rcc.1	-	50	6662	c.6636C>A	c.(6634-6636)AAC>AAA	p.N2212K	NBAS_uc002rcb.1_Missense_Mutation_p.N52K|NBAS_uc010exl.1_Missense_Mutation_p.N1284K|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2212										ovary(2)|liver(1)|skin(1)	4						ATCCTTCCTTGTTCTCCATCG	0.423													T	15326941	G	T	15326941	3	4	283	1	0	0	0	0	1	0	0	0	10186	1368	48	5	491	5	NBAS	2	15326941	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3620242	15326941	227872432	133	145415											
NBAS	51594	broad.mit.edu	37	chr2	15679374	15679374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacaaagagttcacttccCatgagatcaaacaccctcac	5	13	3	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:15679374C>T	uc002rcc.1	-	7	512	c.486G>A	c.(484-486)ATG>ATA	p.M162I	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	162	WD 1.									ovary(2)|liver(1)|skin(1)	4						GTTCACTTCCCATGAGATCAA	0.423													T	15679374	C	T	15679374	3	4	283	1	0	0	0	0	1	0	0	0	10186	594	21	4	6813	4	NBAS	2	15679374	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	352433	15679374	227519999	134	145416											
VSNL1	7447	broad.mit.edu	37	chr2	17773346	17773346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttcttcaggcaggatggGgaagcagaatagcaaactgg	13	7	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:17773346G>T	uc002rcm.2	+	2	389	c.5G>T	c.(4-6)GGG>GTG	p.G2V		NM_003385	NP_003376	P62760	VISL1_HUMAN	visinin-like 1	2							calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCAGGATGGGGAAGCAGAAT	0.458													T	17773346	G	T	17773346	3	4	283	1	0	0	0	0	1	0	0	0	17224	1232	43	5	7	5	VSNL1	2	17773346	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2093972	17773346	225426027	135	145417											
ITSN2	50618	broad.mit.edu	37	chr2	24426495	24426495	+	Nonstop_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgtcctttagaacccCtacaggagagttttttgctc	10	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:24426495C>A	uc002rfe.2	-	40	5352	c.5094G>T	c.(5092-5094)TAG>TAT	p.*1698Y	ITSN2_uc002rff.2_Nonstop_Mutation_p.*1671Y	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1698					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTAGAACCCCTACAGGAGAG	0.592													A	24426495	C	A	24426495	4	1	283	1	0	0	0	0	0	0	0	0	7927	692	24	5	3	5	ITSN2	2	24426495	Nonstop_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6653149	24426495	218772878	136	145418											
POMC	5443	broad.mit.edu	37	chr2	25384074	25384074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggcgggctgccccagCggaagtgctccatcctgtag	14	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:25384074C>T	uc002rfy.1	-	4	943	c.680G>A	c.(679-681)CGC>CAC	p.R227H	POMC_uc002rfz.1_Missense_Mutation_p.R227H|POMC_uc002rga.1_Missense_Mutation_p.R227H	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	227					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			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCTGCCCCAGCGGAAGTGCTC	0.657													T	25384074	C	T	25384074	3	4	283	1	0	0	0	0	1	0	0	0	12242	768	27	1	127	1	POMC	2	25384074	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	957579	25384074	217815299	137	145419											
HADHB	3032	broad.mit.edu	37	chr2	26499963	26499963	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcccttggagctggcttctCtgacaagactcctgctcaca	9	14	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:26499963C>T	uc002rgz.2	+	7	628	c.377C>T	c.(376-378)TCT>TTT	p.S126F	HADHB_uc010ykv.1_Missense_Mutation_p.S104F|HADHB_uc010ykw.1_Missense_Mutation_p.S111F|HADHB_uc002rha.2_Missense_Mutation_p.S126F|HADHB_uc010ykx.1_Missense_Mutation_p.S52F	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	126					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGCTTCTCTGACAAGACT	0.433													T	26499963	C	T	26499963	3	4	283	1	0	0	0	0	1	0	0	0	6944	913	32	4	399	4	HADHB	2	26499963	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1115889	26499963	216699410	138	145420											
EMILIN1	11117	broad.mit.edu	37	chr2	27306197	27306197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggctgtggggcctgtggCggagtccaagaggaactagg	20	7	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:27306197C>T	uc002rii.3	+	4	2186	c.1758C>T	c.(1756-1758)GGC>GGT	p.G586G	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	586	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCTGTGGCGGAGTCCAAG	0.672													T	27306197	C	T	27306197	2	4	283	1	0	0	0	0	0	0	0	1	5093	755	27	1		1	EMILIN1	2	27306197	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	806234	27306197	215893176	139	145421											
CAD	790	broad.mit.edu	37	chr2	27461393	27461393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccatgatgacctggagcGcctggggcctgggaaggggg	19	9	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:27461393G>A	uc002rji.2	+	31	5117	c.4955G>A	c.(4954-4956)CGC>CAC	p.R1652H	CAD_uc010eyw.2_Missense_Mutation_p.R1589H	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1652	DHOase (dihydroorotase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACCTGGAGCGCCTGGGGCCT	0.622													A	27461393	G	A	27461393	3	1	283	1	0	0	0	0	1	0	0	0	2565	1087	38	1	5077	1	CAD	2	27461393	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	155196	27461393	215737980	140	145422											
YPEL5	51646	broad.mit.edu	37	chr2	30379581	30379581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgtgcaaactgtgatAcgatcctgaccaaccgctca	7	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:30379581A>G	uc002rna.3	+	4	625	c.64A>G	c.(64-66)ACG>GCG	p.T22A	YPEL5_uc002rnb.3_Missense_Mutation_p.T22A|YPEL5_uc002rnc.3_Missense_Mutation_p.T22A|YPEL5_uc002rmz.3_Missense_Mutation_p.T22A|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Missense_Mutation_p.T22A	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN	yippee-like 5	22							peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)					AAACTGTGATACGATCCTGAC	0.423													G	30379581	A	G	30379581	3	3	283	1	0	0	0	0	1	0	0	0	17490	391	14	3	66	3	YPEL5	2	30379581	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2918188	30379581	212819792	141	145423											
ATL2	64225	broad.mit.edu	37	chr2	38540317	38540317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctcttttcaagaaattgCtttccaccttccaaaccata	2	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:38540317C>T	uc002rqq.2	-	7	810	c.780G>A	c.(778-780)AAG>AAA	p.K260K	ATL2_uc010ynm.1_Silent_p.K242K|ATL2_uc010ynn.1_Silent_p.K242K|ATL2_uc010yno.1_Silent_p.K89K|ATL2_uc002rqs.2_Silent_p.K260K|ATL2_uc002rqr.2_Silent_p.K89K	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	260	Potential.|Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						CAAGAAATTGCTTTCCACCTT	0.378													T	38540317	C	T	38540317	2	4	283	1	0	0	0	0	0	0	0	1	1107	796	28	2		2	ATL2	2	38540317	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	8160736	38540317	204659056	142	145424											
SOS1	6654	broad.mit.edu	37	chr2	39213084	39213084	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgagaagtgctttgtcGtggaggaacaggcggcccag	16	7	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:39213084G>A	uc002rrk.3	-	23	3924	c.3883C>T	c.(3883-3885)CGA>TGA	p.R1295*	SOS1_uc002rrj.3_Nonsense_Mutation_p.R894*	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1295					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			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				GTGCTTTGTCGTGGAGGAACA	0.502									Noonan_syndrome				A	39213084	G	A	39213084	4	1	283	1	0	0	0	0	0	1	0	0	14936	1153	40	1	122	1	SOS1	2	39213084	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	672767	39213084	203986289	143	145425											
ZFP36L2	678	broad.mit.edu	37	chr2	43452037	43452039	+	In_Frame_Del	DEL	GGA	GGA	-													gccgaggaacaggaggaggcGgaggaggagcaggacgaggc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:43452037_43452039delGGA	uc002rsv.3	-	2	1195_1197	c.904_906delTCC	c.(904-906)TCCdel	p.S302del	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	302					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				aggaggaggcggaggaggagcag	0.606													-	43452039	GGA	-	43452037	7	5	283	1	0	1	0	1	0	0	0	0	17644	1103	39	0	582	0	ZFP36L2	2	43452037	In_Frame_Del	DEL	GGA	TCGA-HU-A4H8-01A-11D-A25D-08	4238953	43452037	199747336	144	145426											
LRPPRC	10128	broad.mit.edu	37	chr2	44139614	44139614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaataatcttctgacaTcagtaatttaatgagattgc	6	5	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:44139614T>C	uc002rtr.2	-	30	3290	c.3232A>G	c.(3232-3234)ATG>GTG	p.M1078V	LRPPRC_uc010yob.1_Missense_Mutation_p.M978V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	1078	PPR 16.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTTCTGACATCAGTAATTTA	0.323													C	44139614	T	C	44139614	3	2	283	1	0	0	0	0	1	0	0	0	8965	1435	50	3	988	3	LRPPRC	2	44139614	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	687577	44139614	199059759	145	145427											
PREPL	9581	broad.mit.edu	37	chr2	44569598	44569598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgttcattacgtttgttaTcaccaaaagtggctcgatat	8	8	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:44569598T>C	uc002ruf.2	-	5	745	c.710A>G	c.(709-711)GAT>GGT	p.D237G	PREPL_uc002rug.2_Missense_Mutation_p.D237G|PREPL_uc002ruh.2_Missense_Mutation_p.D237G|PREPL_uc010fax.2_Missense_Mutation_p.D237G|PREPL_uc002rui.3_Missense_Mutation_p.D148G|PREPL_uc002ruj.1_Missense_Mutation_p.D148G|PREPL_uc002ruk.1_Missense_Mutation_p.D237G	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	237					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGTTTGTTATCACCAAAAGT	0.378													C	44569598	T	C	44569598	3	2	283	1	0	0	0	0	1	0	0	0	12475	1435	50	3	1513	3	PREPL	2	44569598	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	429984	44569598	198629775	146	145428											
RHOQ	23433	broad.mit.edu	37	chr2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-													actccaaagaaacacactgtAaaaaaaagaataggatcaag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:46808174delA	uc002rva.2	+	5	889	c.570delA	c.(568-570)GTAfs	p.V190fs	uc002rvb.2_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	ras-like protein TC10 precursor	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AACACACTGTAAAAAAAAGAA	0.368													-	46808174	A	-	46808174	7	5	283	1	0	1	0	1	0	0	0	0	13342	349	13	0	588	0	RHOQ	2	46808174	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	2238576	46808174	196391199	147	145429											
NRXN1	9378	broad.mit.edu	37	chr2	51254743	51254743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggcacaccccgccctcGccctcctcgcccgcctcgca	8	23	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:51254743G>A	uc010fbq.2	-	2	2146	c.669C>T	c.(667-669)GGC>GGT	p.G223G	NRXN1_uc002rxe.3_Silent_p.G223G|NRXN1_uc002rxd.1_Silent_p.G223G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCCGCCCTCGCCCTCCTCGC	0.716													A	51254743	G	A	51254743	2	1	283	1	0	0	0	0	0	0	0	1	10665	1074	38	1		1	NRXN1	2	51254743	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4446569	51254743	191944630	148	145430											
NRXN1	9378	broad.mit.edu	37	chr2	51254815	51254815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtccagcttcacctcgccGctgtccacgggcaggacctg	11	17	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:51254815G>A	uc010fbq.2	-	2	2074	c.597C>T	c.(595-597)AGC>AGT	p.S199S	NRXN1_uc002rxe.3_Silent_p.S199S|NRXN1_uc002rxd.1_Silent_p.S199S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCACCTCGCCGCTGTCCACGG	0.701													A	51254815	G	A	51254815	2	1	283	1	0	0	0	0	0	0	0	1	10665	1078	38	1		1	NRXN1	2	51254815	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	72	51254815	191944558	149	145431											
PSME4	23198	broad.mit.edu	37	chr2	54167140	54167140	+	Splice_Site	DEL	G	G	-													agaatattttctacagaactGgggggggaaagccatttgat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			TCTACAGAACTGGGGGGGGAA	0.348													-	54167140	G	-	54167140	8	5	283	1	0	1	0	1	0	0	1	0	12709	1363	47	0		0	PSME4	2	54167140	Splice_Site	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	2912325	54167140	189032233	150	145432											
BCL11A	53335	broad.mit.edu	37	chr2	60689540	60689540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaagttgtacatgtgtaGctgctgggctcatctttacc	10	9	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:60689540G>A	uc002sae.1	-	4	735	c.507C>T	c.(505-507)AGC>AGT	p.S169S	BCL11A_uc002sab.2_Silent_p.S169S|BCL11A_uc002sac.2_Silent_p.S169S|BCL11A_uc010ypi.1_Silent_p.S17S|BCL11A_uc010ypj.1_Silent_p.S135S|BCL11A_uc002sad.1_Silent_p.S17S|BCL11A_uc002saf.1_Silent_p.S135S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	169	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|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TACATGTGTAGCTGCTGGGCT	0.423			T	IGH@	B-CLL								A	60689540	G	A	60689540	2	1	283	1	0	0	0	0	0	0	0	1	1363	962	34	2		2	BCL11A	2	60689540	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6522400	60689540	182509833	151	145433											
CNRIP1	25927	broad.mit.edu	37	chr2	68521133	68521133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacttgacttgccacactGtctcgaaggtcccaatgtct	8	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:68521133G>A	uc002sek.3	-	3	1007	c.356C>T	c.(355-357)ACA>ATA	p.T119I	CNRIP1_uc002sej.3_Intron|CNRIP1_uc002sem.1_RNA|CNRIP1_uc002sel.3_RNA	NM_015463	NP_056278	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	119							protein binding			liver(1)	1						TTGCCACACTGTCTCGAAGGT	0.468													A	68521133	G	A	68521133	3	1	283	1	0	0	0	0	1	0	0	0	3633	1377	48	4	203	4	CNRIP1	2	68521133	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7831593	68521133	174678240	152	145434											
ATP6V1B1	525	broad.mit.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-													tttcttctccctcagatctaCccccccatcaacgtgctccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					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						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	71191573	C	-	71191573	7	5	283	1	0	1	0	1	0	0	0	0	1178	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	2670440	71191573	172007800	153	145435											
DQX1	165545	broad.mit.edu	37	chr2	74750442	74750442	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctcactcacacttcGgagctccagtcctgagtcga	7	16	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:74750442G>A	uc010yrw.1	-	5	1204	c.1039C>T	c.(1039-1041)CGA>TGA	p.R347*	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	347	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CTCACACTTCGGAGCTCCAGT	0.547													A	74750442	G	A	74750442	4	1	283	1	0	0	0	0	0	1	0	0	4751	1124	39	1	1146	1	DQX1	2	74750442	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3558869	74750442	168448931	154	145436											
LOXL3	84695	broad.mit.edu	37	chr2	74762732	74762732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcaggccgtggttggCgtagcccagacccagttgcc	13	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:74762732C>T	uc002smp.1	-	8	1471	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	LOXL3_uc002smo.1_Missense_Mutation_p.A106T|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Missense_Mutation_p.A322T|LOXL3_uc010ffn.1_Missense_Mutation_p.A322T	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	467	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CCGTGGTTGGCGTAGCCCAGA	0.632													T	74762732	C	T	74762732	3	4	283	1	0	0	0	0	1	0	0	0	8901	768	27	1	890	1	LOXL3	2	74762732	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	12290	74762732	168436641	155	145437											
LRRTM1	347730	broad.mit.edu	37	chr2	80529622	80529622	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtagagcaccaggaccacGatgaggaaggagaagatgag	15	7	0	5			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:80529622G>A	uc002sok.1	-	2	1593	c.1323C>T	c.(1321-1323)ATC>ATT	p.I441I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	441	Helical; (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CCAGGACCACGATGAGGAAGG	0.607										HNSCC(69;0.2)			A	80529622	G	A	80529622	2	1	283	1	0	0	0	0	0	0	0	1	9039	1048	37	1		1	LRRTM1	2	80529622	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5766890	80529622	162669751	156	145438											
ADRA2B	151	broad.mit.edu	37	chr2	96781701	96781701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaaagggatgatgagcGtggccaccaggatgtcggcg	18	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:96781701G>A	uc002svi.2	-	1	188	c.188C>T	c.(187-189)ACG>ATG	p.T63M		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	63	Helical; Name=2; (By similarity).				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			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GATGATGAGCGTGGCCACCAG	0.652													A	96781701	G	A	96781701	3	1	283	1	0	0	0	0	1	0	0	0	338	1145	40	1	1159	1	ADRA2B	2	96781701	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	16252079	96781701	146417672	157	145439											
ZAP70	7535	broad.mit.edu	37	chr2	98351712	98351712	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtggccgggtcgggcaGgaagcagatcgacgtggcca	17	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:98351712G>T	uc002syd.1	+	10	1290	c.1083_splice	c.e10-1	p.K361_splice	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Splice_Site_p.K251_splice|ZAP70_uc002syf.1_Splice_Site_p.K54_splice	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa						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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GGGTCGGGCAGGAAGCAGATC	0.662													T	98351712	G	T	98351712	5	4	283	1	0	0	0	0	0	0	1	0	17511	1014	35	5	1112	5	ZAP70	2	98351712	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1570011	98351712	144847661	158	145440											
TMEM131	23505	broad.mit.edu	37	chr2	98392356	98392356	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtctctgtggtggtggAggagctatcatcatcagcca	15	8	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:98392356A>T	uc002syh.3	-	32	4499	c.4270T>A	c.(4270-4272)TCC>ACC	p.S1424T		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1424	Lys-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6						GTGGTGGTGGAGGAGCTATCA	0.517													T	98392356	A	T	98392356	3	4	283	1	0	0	0	0	1	0	0	0	16041	304	11	5	1421	5	TMEM131	2	98392356	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	40644	98392356	144807017	159	145441											
UXS1	80146	broad.mit.edu	37	chr2	106761649	106761649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagttttcactcaccctCgatgtagaggggctccacca	10	13	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:106761649C>T	uc002tdm.2	-	6	552	c.454G>A	c.(454-456)GAG>AAG	p.E152K	UXS1_uc002tdn.2_Missense_Mutation_p.E157K|UXS1_uc002tdo.2_Missense_Mutation_p.E95K|UXS1_uc010ywh.1_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	152	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						CACTCACCCTCGATGTAGAGG	0.517													T	106761649	C	T	106761649	3	4	283	1	0	0	0	0	1	0	0	0	17106	893	31	1	848	1	UXS1	2	106761649	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	8369293	106761649	136437724	160	145442											
RANBP2	5903	broad.mit.edu	37	chr2	109384547	109384547	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaagtttgtatttggtTcagagtctgttaaaagcatt	8	6	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:109384547T>C	uc002tem.3	+	20	7678	c.7552T>C	c.(7552-7554)TCA>CCA	p.S2518P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2518					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(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGTATTTGGTTCAGAGTCTGT	0.388													C	109384547	T	C	109384547	3	2	283	1	0	0	0	0	1	0	0	0	13028	1783	62	3	7630	3	RANBP2	2	109384547	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	2622898	109384547	133814826	161	145443											
NPHP1	4867	broad.mit.edu	37	chr2	110926098	110926099	+	Frame_Shift_Ins	INS	-	-	T													ctatccaccaaccatcaggtINStttttttcaattacaaggag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:110926097_110926098G>GT	uc002tfn.4	-	5	649_650	c.555_556C>AC	c.(553-558)aaacctfs	p.K185fs	NPHP1_uc002tfm.4_Frame_Shift_Ins_p.K185fs|NPHP1_uc002tfl.4_Frame_Shift_Ins_p.K185fs|NPHP1_uc002tfo.4_Frame_Shift_Ins_p.K123fs|NPHP1_uc010ywx.2_Frame_Shift_Ins_p.K185fs|NPHP1_uc010fjv.1_Frame_Shift_Ins_p.K185fs	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	185	SH3.				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	p.P186H(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CAACCATCAGGTTTTTTTTCAA	0.342													T	110926099	-	T	110926098	7	5	283	1	0	1	1	0	0	0	0	0	10579	1722	60	0	1706	0	NPHP1	2	110926098	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1541551	110926098	132273275	162	145444											
STEAP3	55240	broad.mit.edu	37	chr2	120005698	120005698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgctcagcttcttctgCgccgccctgcacgccctcta	10	18	4	0	rs145832236		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:120005698C>T	uc002tlp.2	+	4	1093	c.936C>T	c.(934-936)TGC>TGT	p.C312C	STEAP3_uc002tlq.2_Silent_p.C322C|STEAP3_uc002tlr.2_Silent_p.C312C|STEAP3_uc010fle.2_Silent_p.C312C	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	312	Ferric oxidoreductase.|Helical; (Potential).				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			central_nervous_system(2)|skin(1)	3						GCTTCTTCTGCGCCGCCCTGC	0.677													T	120005698	C	T	120005698	2	4	283	1	0	0	0	0	0	0	0	1	15278	776	27	1		1	STEAP3	2	120005698	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	9079600	120005698	123193675	163	145445											
GLI2	2736	broad.mit.edu	37	chr2	121740422	121740422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccaacgcctcggaccGcgccaagcaccagaatcgca	8	18	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:121740422G>A	uc010flp.2	+	10	1679	c.1649G>A	c.(1648-1650)CGC>CAC	p.R550H	GLI2_uc002tmq.1_Missense_Mutation_p.R222H|GLI2_uc002tmr.1_Missense_Mutation_p.R205H|GLI2_uc002tmt.3_Missense_Mutation_p.R222H|GLI2_uc002tmu.3_Missense_Mutation_p.R205H|GLI2_uc002tmw.1_Missense_Mutation_p.R533H	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	550	C2H2-type 4.				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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCCTCGGACCGCGCCAAGCAC	0.632													A	121740422	G	A	121740422	3	1	283	1	0	0	0	0	1	0	0	0	6438	1087	38	1	1687	1	GLI2	2	121740422	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1734724	121740422	121458951	164	145446											
GLI2	2736	broad.mit.edu	37	chr2	121743883	121743883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccccggggcccagtcGtcctgcagcagcgagccctc	12	19	0	0	rs114259687	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:121743883G>A	uc010flp.2	+	12	2016	c.1986G>A	c.(1984-1986)TCG>TCA	p.S662S	GLI2_uc002tmq.1_Silent_p.S334S|GLI2_uc002tmr.1_Silent_p.S317S|GLI2_uc002tmt.3_Silent_p.S334S|GLI2_uc002tmu.3_Silent_p.S317S|GLI2_uc002tmw.1_Silent_p.S645S	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	662					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|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GGGCCCAGTCGTCCTGCAGCA	0.667													A	121743883	G	A	121743883	2	1	283	1	0	0	0	0	0	0	0	1	6438	1132	40	1		1	GLI2	2	121743883	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3461	121743883	121455490	165	145447											
CLASP1	23332	broad.mit.edu	37	chr2	122165239	122165239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggcatcactgttggcaTcatcgtcagaatacatccca	8	11	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:122165239T>C	uc002tnc.2	-	25	2867	c.2477A>G	c.(2476-2478)GAT>GGT	p.D826G	CLASP1_uc010yyv.1_5'UTR|CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D806G|CLASP1_uc010yza.1_Missense_Mutation_p.D798G|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.D797G	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	826					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			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					ACTGTTGGCATCATCGTCAGA	0.493													C	122165239	T	C	122165239	3	2	283	1	0	0	0	0	1	0	0	0	3454	1435	50	3	2199	3	CLASP1	2	122165239	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	421356	122165239	121034134	166	145448											
BIN1	274	broad.mit.edu	37	chr2	127808729	127808729	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgtccctgctgtcttaCggaggctgcttcacttgccg	11	13	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:127808729C>T	uc002tns.1	-	16	1806	c.1461_splice	c.e16+1	p.S487_splice	BIN1_uc010yzf.1_Intron|BIN1_uc010yzg.1_Splice_Site_p.S364_splice|BIN1_uc002tnu.1_Intron|BIN1_uc002toa.1_Splice_Site_p.S376_splice|BIN1_uc002tnt.1_Intron|BIN1_uc002tnv.1_Splice_Site_p.S444_splice|BIN1_uc002tnw.1_Splice_Site_p.S391_splice|BIN1_uc002tnx.1_Splice_Site_p.S348_splice|BIN1_uc002tny.1_Splice_Site_p.S400_splice|BIN1_uc002tnz.1_Splice_Site_p.S412_splice|BIN1_uc002tob.1_Splice_Site_p.S333_splice|BIN1_uc002toc.1_Splice_Site_p.S369_splice	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGCTGTCTTACGGAGGCTGCT	0.692													T	127808729	C	T	127808729	5	4	283	1	0	0	0	0	0	0	1	0	1432	550	19	1	335	1	BIN1	2	127808729	Splice_Site	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5643490	127808729	115390644	167	145449											
BIN1	274	broad.mit.edu	37	chr2	127828152	127828152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcgatcttgtttgcctcatCcctgccgggccaatcgggct	11	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:127828152C>A	uc002tns.1	-	4	637	c.292G>T	c.(292-294)GAT>TAT	p.D98Y	BIN1_uc010yzf.1_Missense_Mutation_p.D74Y|BIN1_uc010yzg.1_Missense_Mutation_p.D98Y|BIN1_uc002tnu.1_Missense_Mutation_p.D98Y|BIN1_uc002toa.1_Missense_Mutation_p.D98Y|BIN1_uc002tnt.1_Missense_Mutation_p.D98Y|BIN1_uc002tnv.1_Missense_Mutation_p.D98Y|BIN1_uc002tnw.1_Missense_Mutation_p.D98Y|BIN1_uc002tnx.1_Missense_Mutation_p.D98Y|BIN1_uc002tny.1_Missense_Mutation_p.D98Y|BIN1_uc002tnz.1_Missense_Mutation_p.D98Y|BIN1_uc002tob.1_Missense_Mutation_p.D98Y|BIN1_uc002toc.1_Missense_Mutation_p.D98Y	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	98	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTTGCCTCATCCCTGCCGGGC	0.607													A	127828152	C	A	127828152	3	1	283	1	0	0	0	0	1	0	0	0	1432	855	30	5	1602	5	BIN1	2	127828152	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	19423	127828152	115371221	168	145450											
HS6ST1	9394	broad.mit.edu	37	chr2	129075996	129075996	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggtcgtcgggcggcgcgcGgccgccgggcgcgcccaggc	20	17	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:129075996G>C	uc002tpt.3	-	1	176	c.142C>G	c.(142-144)CGC>GGC	p.R48G		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	48	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ggcggcgcgcggccgccgggc	0.542													C	129075996	G	C	129075996	3	2	283	1	0	0	0	0	1	0	0	0	7370	1116	39	5	1101	5	HS6ST1	2	129075996	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1247844	129075996	114123377	169	145451											
SMPD4	55627	broad.mit.edu	37	chr2	130921967	130921967	+	Frame_Shift_Del	DEL	T	T	-													cttggcatgaggggactgcaTtttttgatacatctccaagg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:130921966_130921966AT>A	uc002tqq.2	-	9	2111	c.962_962AT>T	c.(961-963)atgfs	p.M321fs	SMPD4_uc002tqp.2_Frame_Shift_Del_p.M14fs|SMPD4_uc010yzy.2_Frame_Shift_Del_p.M99fs|SMPD4_uc010yzz.2_Frame_Shift_Del_p.M14fs|SMPD4_uc002tqs.2_Frame_Shift_Del_p.M189fs|SMPD4_uc002tqr.2_Frame_Shift_Del_p.M321fs|SMPD4_uc010zaa.2_Frame_Shift_Del_p.M208fs|SMPD4_uc010zab.2_Frame_Shift_Del_p.M248fs|SMPD4_uc002tqt.2_Frame_Shift_Del_p.M199fs|SMPD4_uc010zac.2_Frame_Shift_Del_p.C35fs|SMPD4_uc010zad.2_Frame_Shift_Del_p.C35fs	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	282					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase 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)	AGGGGACTGCATTTTTTGATA	0.438													-	130921967	T	-	130921967	7	5	283	1	0	1	0	1	0	0	0	0	14807	1493	52	0	1683	0	SMPD4	2	130921967	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	1845971	130921967	112277406	170	145452											
IMP4	92856	broad.mit.edu	37	chr2	131103230	131103230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgcaaagccaacggcGtcaccgatctgctggtcgtt	12	13	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:131103230G>A	uc002tra.1	+	5	414	c.397G>A	c.(397-399)GTC>ATC	p.V133I		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	133	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)					AGCCAACGGCGTCACCGATCT	0.667													A	131103230	G	A	131103230	3	1	283	1	0	0	0	0	1	0	0	0	7720	1145	40	1	415	1	IMP4	2	131103230	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	181263	131103230	112096143	171	145453											
LCT	3938	broad.mit.edu	37	chr2	136548299	136548299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaggtctgtttcttccCgctgggacactccattctct	8	13	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:136548299C>T	uc002tuu.1	-	15	5275	c.5264G>A	c.(5263-5265)CGG>CAG	p.R1755Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1755	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTTTCTTCCCGCTGGGACAC	0.512													T	136548299	C	T	136548299	3	4	283	1	0	0	0	0	1	0	0	0	8693	652	23	1	531	1	LCT	2	136548299	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5445069	136548299	106651074	172	145454											
LCT	3938	broad.mit.edu	37	chr2	136567157	136567157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatcggcatcccacgcGccttcaatctgataagcgga	9	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:136567157G>A	uc002tuu.1	-	8	2771	c.2760C>T	c.(2758-2760)GGC>GGT	p.G920G		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	920	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCCACGCGCCTTCAATCT	0.537													A	136567157	G	A	136567157	2	1	283	1	0	0	0	0	0	0	0	1	8693	1074	38	1		1	LCT	2	136567157	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	18858	136567157	106632216	173	145455											
LCT	3938	broad.mit.edu	37	chr2	136594315	136594315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaggcttcggttctcCggagggtgctggcagggagg	18	9	1	0	rs143420596		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:136594315C>T	uc002tuu.1	-	1	436	c.425G>A	c.(424-426)CGG>CAG	p.R142Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	142	Extracellular (Potential).|4 X approximate repeats.|1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCGGTTCTCCGGAGGGTGCT	0.597													T	136594315	C	T	136594315	3	4	283	1	0	0	0	0	1	0	0	0	8693	652	23	1	5426	1	LCT	2	136594315	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	27158	136594315	106605058	174	145456											
LRP1B	53353	broad.mit.edu	37	chr2	141032034	141032035	+	Frame_Shift_Ins	INS	-	-	C													ctttatttataatgcagtgcINScccccatggcaccttacaca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:141032033_141032034G>GC	uc002tvj.1	-	84	14073_14074	c.13101_13102C>GC	c.(13099-13104)gggcacfs	p.G4367fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4367					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4367R(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)		ATAATGCAGTGCCCCCCATGGC	0.421										TSP Lung(27;0.18)			C	141032035	-	C	141032034	7	5	283	1	0	1	1	0	0	0	0	0	8955	726	26	0	726	0	LRP1B	2	141032034	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	4437719	141032034	102167339	175	145457											
NEB	4703	broad.mit.edu	37	chr2	152426860	152426860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccctggctgtgagggtgCccacgtagtgtcccttctgc	12	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:152426860C>T	uc010fnx.2	-	81	12253	c.12062G>A	c.(12061-12063)GGC>GAC	p.G4021D	NEB_uc002txr.2_Missense_Mutation_p.G444D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4021	Nebulin 110.				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			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGAGGGTGCCCACGTAGTG	0.507													T	152426860	C	T	152426860	3	4	283	1	0	0	0	0	1	0	0	0	10302	739	26	2	8817	2	NEB	2	152426860	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	11394826	152426860	90772513	176	145458											
GALNT5	11227	broad.mit.edu	37	chr2	158152993	158152994	+	Frame_Shift_Ins	INS	-	-	A													ttcctccagatgtcattgcaINSaaaaacagaattaaagaaac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:158152992_158152993C>CA	uc002tzg.3	+	4	2219_2220	c.1964_1965C>CA	c.(1963-1965)gcafs	p.A655fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	655					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N657fs*4(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GATGTCATTGCAAAAAACAGAA	0.337													A	158152994	-	A	158152993	7	5	283	1	0	1	1	0	0	0	0	0	6216	117	5	0	1983	0	GALNT5	2	158152993	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	5726133	158152993	85046380	177	145459											
PKP4	8502	broad.mit.edu	37	chr2	159481624	159481624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtactcacagagacccGcctccccaacagctatacgg	7	18	1	1	rs138802591	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:159481624G>A	uc002tzv.2	+	7	1098	c.838G>A	c.(838-840)GCC>ACC	p.A280T	PKP4_uc002tzt.1_Missense_Mutation_p.A132T|PKP4_uc002tzu.2_Missense_Mutation_p.A280T|PKP4_uc002tzw.2_Missense_Mutation_p.A280T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.A278T|PKP4_uc002uaa.2_Missense_Mutation_p.A132T	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	280					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						ACAGAGACCCGCCTCCCCAAC	0.612										HNSCC(62;0.18)			A	159481624	G	A	159481624	3	1	283	1	0	0	0	0	1	0	0	0	11987	1087	38	1	860	1	PKP4	2	159481624	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1328631	159481624	83717749	178	145460											
DPP4	1803	broad.mit.edu	37	chr2	162891779	162891780	+	Frame_Shift_Ins	INS	-	-	A													cgttaaattgggcatatgctINSaaaaaagtgccgtttggaga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:162891779_162891780insA	uc002ubz.2	-	9	1229_1230	c.668_669insT	c.(667-669)TTAfs	p.L223fs	DPP4_uc010fpb.2_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	223	Extracellular (Potential).				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			ovary(3)	3					Sitagliptin(DB01261)	GGGCATATGCTAAAAAAGTGCC	0.421													A	162891780	-	A	162891779	7	5	283	1	0	1	1	0	0	0	0	0	4729	1519	53	0	1703	0	DPP4	2	162891779	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	3410155	162891779	80307594	179	145461	766	2									
DPP4	1803	broad.mit.edu	37	chr2	162891780	162891781	+	Frame_Shift_Ins	INS	-	-	A													gttaaattgggcatatgctaINSaaaaagtgccgtttggagac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:162891779_162891780T>TA	uc002ubz.3	-	8	1229_1230	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	DPP4_uc010fpb.3_5'UTR	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	223					T cell activation|T cell costimulation|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	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)	GGGCATATGCTAAAAAAGTGCC	0.421													A	162891781	-	A	162891780	7	5	283	1	0	1	1	0	0	0	0	0	4729	372	13	0	1704	0	DPP4	2	162891780	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	162891780	80307593	180	145462	766	2									
IFIH1	64135	broad.mit.edu	37	chr2	163138979	163138979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggacttgacaacttcTggaaatgatattttcagttg	8	7	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:163138979T>C	uc002uce.2	-	6	1425	c.1203A>G	c.(1201-1203)CCA>CCG	p.P401P		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	401	Helicase ATP-binding.				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			ovary(1)	1						TGACAACTTCTGGAAATGATA	0.373													C	163138979	T	C	163138979	2	2	283	1	0	0	0	0	0	0	0	1	7520	1567	55	3		3	IFIH1	2	163138979	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	247199	163138979	80060394	181	145463											
GALNT3	2591	broad.mit.edu	37	chr2	166606314	166606314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctttgtaggtacatgCcttcagctgaacgagacctt	10	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:166606314C>T	uc010fph.1	-	10	2104	c.1717G>A	c.(1717-1719)GCA>ACA	p.A573T		NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	573	Ricin B-type lectin.|Lumenal (Potential).				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			central_nervous_system(2)|ovary(1)	3						TAGGTACATGCCTTCAGCTGA	0.413													T	166606314	C	T	166606314	3	4	283	1	0	0	0	0	1	0	0	0	6214	739	26	2	192	2	GALNT3	2	166606314	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3467335	166606314	76593059	182	145464											
SCN1A	6323	broad.mit.edu	37	chr2	166848219	166848219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccggtcaccactcaccaTgggcaaatccatggcaatga	9	13	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:166848219T>C	uc010zcz.1	-	26	5551	c.5533A>G	c.(5533-5535)ATG>GTG	p.M1845V		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1856						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCACTCACCATGGGCAAATCC	0.453													C	166848219	T	C	166848219	3	2	283	1	0	0	0	0	1	0	0	0	13914	1464	51	3	467	3	SCN1A	2	166848219	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	241905	166848219	76351154	183	145465											
LRP2	4036	broad.mit.edu	37	chr2	170097611	170097611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattgccaactaggacagCgaaagggctgagtagggcag	15	9	0	1	rs140748929		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:170097611C>T	uc002ues.2	-	25	4145	c.3932G>A	c.(3931-3933)CGC>CAC	p.R1311H	LRP2_uc010zdf.1_Missense_Mutation_p.R1174H	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1311	LDL-receptor class A 15.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	ACTAGGACAGCGAAAGGGCTG	0.517													T	170097611	C	T	170097611	3	4	283	1	0	0	0	0	1	0	0	0	8956	768	27	1	10255	1	LRP2	2	170097611	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3249392	170097611	73101762	184	145466											
C2orf77	129881	broad.mit.edu	37	chr2	170537614	170537614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcatgctgcttctcttGtcaacctgtcaaggctatct	10	11	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:170537614G>T	uc002ufe.2	-	2	291	c.197C>A	c.(196-198)ACA>AAA	p.T66K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	66	Potential.										0						TGCTTCTCTTGTCAACCTGTC	0.433													T	170537614	G	T	170537614	3	4	283	1	0	0	0	0	1	0	0	0	2194	1377	48	5	1493	5	C2orf77	2	170537614	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	440003	170537614	72661759	185	145467											
TLK1	9874	broad.mit.edu	37	chr2	171867901	171867901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttatacacttcactaaaGccacctctaccaagcagatg	4	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:171867901G>A	uc002ugn.2	-	14	1870	c.1398C>T	c.(1396-1398)GGC>GGT	p.G466G	TLK1_uc002ugo.2_Silent_p.G487G|TLK1_uc002ugp.2_Silent_p.G418G|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Silent_p.G370G	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	466	Protein kinase.|ATP (By similarity).				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			central_nervous_system(1)	1						CTTCACTAAAGCCACCTCTAC	0.328													A	171867901	G	A	171867901	2	1	283	1	0	0	0	0	0	0	0	1	15940	958	34	2		2	TLK1	2	171867901	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1330287	171867901	71331472	186	145468											
HOXD13	3239	broad.mit.edu	37	chr2	176958274	176958274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcggctccggggagcctcGgcacgaggcctacatctcca	12	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:176958274G>A	uc002ukf.1	+	1	743	c.656G>A	c.(655-657)CGG>CAG	p.R219Q		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	219					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGGGAGCCTCGGCACGAGGCC	0.617			T	NUP98	AML*								A	176958274	G	A	176958274	3	1	283	1	0	0	0	0	1	0	0	0	7322	1116	39	1	658	1	HOXD13	2	176958274	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5090373	176958274	66241099	187	145469											
HOXD13	3239	broad.mit.edu	37	chr2	176959377	176959377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgctacgaacctatctgaGagacaagtgaccatttggtt	10	9	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:176959377G>T	uc002ukf.1	+	2	1038	c.951G>T	c.(949-951)GAG>GAT	p.E317D		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	317	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ACCTATCTGAGAGACAAGTGA	0.463			T	NUP98	AML*								T	176959377	G	T	176959377	3	4	283	1	0	0	0	0	1	0	0	0	7322	933	33	5	957	5	HOXD13	2	176959377	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1103	176959377	66239996	188	145470											
TTN	7273	broad.mit.edu	37	chr2	179395823	179395823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggtcacttggtggcgGgcagaagtacttagcacttg	16	7	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179395823G>A	uc010zfg.1	-	307	98039	c.97815C>T	c.(97813-97815)GCC>GCT	p.A32605A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A26300A|TTN_uc010zfi.1_Silent_p.A26233A|TTN_uc010zfj.1_Silent_p.A26108A|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33532							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGGTGGCGGGCAGAAGTAC	0.512													A	179395823	G	A	179395823	2	1	283	1	0	0	0	0	0	0	0	1	16732	1219	43	4		4	TTN	2	179395823	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2436446	179395823	63803550	189	145471											
TTN	7273	broad.mit.edu	37	chr2	179414508	179414508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggttatgggagcacaaccGtcattgagtggggcatccca	14	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179414508G>A	uc010zfg.1	-	287	84461	c.84237C>T	c.(84235-84237)GAC>GAT	p.D28079D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D21774D|TTN_uc010zfi.1_Silent_p.D21707D|TTN_uc010zfj.1_Silent_p.D21582D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29006							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCACAACCGTCATTGAGTG	0.443													A	179414508	G	A	179414508	2	1	283	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179414508	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	18685	179414508	63784865	190	145472											
TTN	7273	broad.mit.edu	37	chr2	179427631	179427631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctaatgtcagattatacCgaccactgtcaaatctggta	6	9	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179427631C>T	uc010zfg.1	-	275	75748	c.75524G>A	c.(75523-75525)CGG>CAG	p.R25175Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R18870Q|TTN_uc010zfi.1_Missense_Mutation_p.R18803Q|TTN_uc010zfj.1_Missense_Mutation_p.R18678Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26102							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATTATACCGACCACTGTC	0.413													T	179427631	C	T	179427631	3	4	283	1	0	0	0	0	1	0	0	0	16732	652	23	1	24899	1	TTN	2	179427631	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	13123	179427631	63771742	191	145473											
TTN	7273	broad.mit.edu	37	chr2	179436307	179436307	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgccaggtggttgtggaaGtgtcccgtttctcaacaatg	12	8	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179436307G>C	uc010zfg.1	-	275	67072	c.66848C>G	c.(66847-66849)ACT>AGT	p.T22283S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15978S|TTN_uc010zfi.1_Missense_Mutation_p.T15911S|TTN_uc010zfj.1_Missense_Mutation_p.T15786S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23210							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTGTGGAAGTGTCCCGTTT	0.418													C	179436307	G	C	179436307	3	2	283	1	0	0	0	0	1	0	0	0	16732	1029	36	5	33575	5	TTN	2	179436307	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8676	179436307	63763066	192	145474											
TTN	7273	broad.mit.edu	37	chr2	179584466	179584466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaccacttggctgagAgttctggtgttccagtcact	10	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179584466A>G	uc010zfg.1	-	79	20245	c.20021T>C	c.(20020-20022)CTC>CCC	p.L6674P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3335P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7601							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGGCTGAGAGTTCTGGTGT	0.433													G	179584466	A	G	179584466	3	3	283	1	0	0	0	0	1	0	0	0	16732	304	11	3	80900	3	TTN	2	179584466	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	148159	179584466	63614907	193	145475											
TTN	7273	broad.mit.edu	37	chr2	179596254	179596254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtggcctggaaggcagCtgtgcctccccggagggagc	17	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:179596254C>T	uc010zfg.1	-	56	13731	c.13507G>A	c.(13507-13509)GCT>ACT	p.A4503T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1164T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5430							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGGCAGCTGTGCCTCCC	0.453													T	179596254	C	T	179596254	3	4	283	1	0	0	0	0	1	0	0	0	16732	797	28	2	87506	2	TTN	2	179596254	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	11788	179596254	63603119	194	145476											
PDE1A	5136	broad.mit.edu	37	chr2	183095853	183095853	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatcgaaagaccatttatcAacatcctgtagaaaaaagaa	5	8	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:183095853A>G	uc002uos.2	-	6	555	c.471T>C	c.(469-471)GTT>GTC	p.V157V	PDE1A_uc010zfp.1_Silent_p.V53V|PDE1A_uc002uoq.1_Silent_p.V157V|PDE1A_uc010zfq.1_Silent_p.V157V|PDE1A_uc002uor.2_Silent_p.V141V|PDE1A_uc002uou.2_Silent_p.V123V	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	157					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			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACCATTTATCAACATCCTGTA	0.323													G	183095853	A	G	183095853	2	3	283	1	0	0	0	0	0	0	0	1	11633	117	5	3		3	PDE1A	2	183095853	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	3499599	183095853	60103520	195	145477											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-													caagaacatgactatttcaaGggggggactgatgcagtgtg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:187521084_187521084AG>A	uc002upq.3	+	16	1951	c.1675_1675AG>A	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Del_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Del_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|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|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)		GACTATTTCAAGGGGGGGACT	0.428													-	187521085	G	-	187521085	7	5	283	1	0	1	0	1	0	0	0	0	7888	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	4425232	187521085	55678288	196	145478											
COL3A1	1281	broad.mit.edu	37	chr2	189875616	189875616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctggaggatggttgcacGgtaggaaacatttttctcaa	12	6	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:189875616G>A	uc002uqj.1	+	50	4371	c.4254G>A	c.(4252-4254)ACG>ACA	p.T1418T		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1418	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			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATGGTTGCACGGTAGGAAACA	0.348													A	189875616	G	A	189875616	2	1	283	1	0	0	0	0	0	0	0	1	3688	1130	39	1		1	COL3A1	2	189875616	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2354531	189875616	53323757	197	145479											
SLC39A10	57181	broad.mit.edu	37	chr2	196571395	196571395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgctttccttgctaggCgtgatcttggttcctatcat	9	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:196571395C>T	uc002utg.3	+	4	1486	c.1272C>T	c.(1270-1272)GGC>GGT	p.G424G	SLC39A10_uc002uth.3_Silent_p.G424G|SLC39A10_uc010zgp.1_5'UTR	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	424	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CCTTGCTAGGCGTGATCTTGG	0.383													T	196571395	C	T	196571395	2	4	283	1	0	0	0	0	0	0	0	1	14613	755	27	1		1	SLC39A10	2	196571395	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6695779	196571395	46627978	198	145480											
HECW2	57520	broad.mit.edu	37	chr2	197183693	197183693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgcaggagctgtcagCgcattccaggtcactctctc	9	14	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:197183693C>T	uc002utm.1	-	9	2104	c.1921G>A	c.(1921-1923)GCT>ACT	p.A641T	HECW2_uc002utl.1_Missense_Mutation_p.A285T	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GAGCTGTCAGCGCATTCCAGG	0.582													T	197183693	C	T	197183693	3	4	283	1	0	0	0	0	1	0	0	0	7043	768	27	1	2881	1	HECW2	2	197183693	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	612298	197183693	46015680	199	145481											
SPATS2L	26010	broad.mit.edu	37	chr2	201342742	201342742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcagtcccggctgtgacGttggtggcctgagctaggag	15	11	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:201342742G>A	uc002uvn.3	+	13	2017	c.1665G>A	c.(1663-1665)ACG>ACA	p.T555T	SPATS2L_uc010fst.2_Silent_p.T555T|SPATS2L_uc002uvo.3_Silent_p.T495T|SPATS2L_uc002uvp.3_Silent_p.T555T|SPATS2L_uc002uvq.3_Silent_p.T486T|SPATS2L_uc002uvr.3_Silent_p.T555T|SPATS2L_uc010zhc.1_Silent_p.T585T	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	555						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						CGGCTGTGACGTTGGTGGCCT	0.532													A	201342742	G	A	201342742	2	1	283	1	0	0	0	0	0	0	0	1	15019	1132	40	1		1	SPATS2L	2	201342742	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4159049	201342742	41856631	200	145482											
STRADB	55437	broad.mit.edu	37	chr2	202337717	202337717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttctgtccatcttgcacGgcatactcccacaggaacac	7	15	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:202337717G>A	uc002uyd.3	+	5	598	c.233G>A	c.(232-234)CGG>CAG	p.R78Q		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	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			skin(2)|stomach(1)|lung(1)	4						CATCTTGCACGGCATACTCCC	0.323													A	202337717	G	A	202337717	3	1	283	1	0	0	0	0	1	0	0	0	15324	1116	39	1	247	1	STRADB	2	202337717	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	994975	202337717	40861656	201	145483											
FZD7	8324	broad.mit.edu	37	chr2	202900121	202900121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttaaggaggaggagaggCgcttcgcccgcctctgggtg	16	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:202900121C>T	uc002uyw.1	+	1	812	c.751C>T	c.(751-753)CGC>TGC	p.R251C		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	251	Extracellular (Potential).				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			skin(2)|ovary(1)|breast(1)	4						GGAGGAGAGGCGCTTCGCCCG	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	202900121	C	T	202900121	3	4	283	1	0	0	0	0	1	0	0	0	6135	768	27	1	753	1	FZD7	2	202900121	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	562404	202900121	40299252	202	145484											
FZD7	8324	broad.mit.edu	37	chr2	202900156	202900156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgggcgtgtggtccgtGctgtgctgcgcctcgacgct	18	11	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:202900156G>A	uc002uyw.1	+	1	847	c.786G>A	c.(784-786)GTG>GTA	p.V262V		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	262	Helical; Name=1; (Potential).				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			skin(2)|ovary(1)|breast(1)	4						TGTGGTCCGTGCTGTGCTGCG	0.647											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	202900156	G	A	202900156	2	1	283	1	0	0	0	0	0	0	0	1	6135	1306	46	2		2	FZD7	2	202900156	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	35	202900156	40299217	203	145485											
CD28	940	broad.mit.edu	37	chr2	204571310	204571310	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggcggtggtggtggccGtggatgacggagactctcag	20	7	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:204571310G>A	uc002vah.3	+	1	113	c.-109G>A	c.(-111--107)CCGTG>CCATG		CD28_uc002vag.1_RNA|CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Translation_Start_Site|CD28_uc002vaj.3_RNA	NM_006139	NP_006130	P10747	CD28_HUMAN	CD28 antigen precursor						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				0						GGTGGTGGCCGTGGATGACGG	0.577													A	204571310	G	A	204571310	1	1	283	1	0	0	0	0	0	0	0	0	2993	1160	40	1		1	CD28	2	204571310	Translation_Start_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1671154	204571310	38628063	204	145486											
FZD5	7855	broad.mit.edu	37	chr2	208631836	208631836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccccgctcttgtggccgCgccgcgggcggcagcagcag	16	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:208631836C>T	uc002vcj.2	-	2	2038	c.1628G>A	c.(1627-1629)CGC>CAC	p.R543H		NM_003468	NP_003459	Q13467	FZD5_HUMAN	frizzled 5 precursor	543	Cytoplasmic (Potential).				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			ovary(2)|lung(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTTGTGGCCGCGCCGCGGGCG	0.642													T	208631836	C	T	208631836	3	4	283	1	0	0	0	0	1	0	0	0	6133	768	27	1	133	1	FZD5	2	208631836	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4060526	208631836	34567537	205	145487											
CRYGD	1421	broad.mit.edu	37	chr2	209025577	209025578	+	Frame_Shift_Ins	INS	-	-	C													gccgactttggcatctgcacINSccccccagtcgtggtacctt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:209025576_209025577A>AC	uc002vcq.4	-	2	493_494	c.476_477T>GT	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	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)		TGGCATCTGCACCCCCCCAGTC	0.53													C	209025578	-	C	209025577	7	5	283	1	0	1	1	0	0	0	0	0	3917	507	18	0		0	CRYGD	2	209025577	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	393741	209025577	34173796	206	145488											
ERBB4	2066	broad.mit.edu	37	chr2	212248737	212248737	+	Frame_Shift_Del	DEL	T	T	-													ccaatgcttgaaggtctccaTtttttctccgagaaacaaaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:212248736_212248736AT>A	uc002veg.1	-	27	3629	c.3531_3531AT>T	c.(3529-3531)aatfs	p.N1177fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.N1161fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.N1167fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.N1151fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1177					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)		GAAGGTCTCCATTTTTTCTCC	0.403										TSP Lung(8;0.080)			-	212248737	T	-	212248737	7	5	283	1	0	1	0	1	0	0	0	0	5209	1493	52	0	400	0	ERBB4	2	212248737	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	3223160	212248737	30950636	207	145489											
SMARCAL1	50485	broad.mit.edu	37	chr2	217315719	217315719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtgattgccccaggaCggatcaatgccaggaccaga	13	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:217315719C>T	uc002vgc.3	+	12	2332	c.2002C>T	c.(2002-2004)CGG>TGG	p.R668W	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R668W|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R646W	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	668					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			ovary(3)|breast(3)|skin(1)	7		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)		TGCCCCAGGACGGATCAATGC	0.587									Schimke_Immuno-Osseous_Dysplasia				T	217315719	C	T	217315719	3	4	283	1	0	0	0	0	1	0	0	0	14773	527	19	1	2040	1	SMARCAL1	2	217315719	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5066982	217315719	25883654	208	145490											
VIL1	7429	broad.mit.edu	37	chr2	219301941	219301941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagacccatcccagcgggcGtgaccctgagacccccatca	9	18	1	3	rs145276026	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219301941G>A	uc002via.2	+	17	2131	c.2066G>A	c.(2065-2067)CGT>CAT	p.R689H	VIL1_uc010zke.1_Missense_Mutation_p.R378H|VIL1_uc002vib.2_Missense_Mutation_p.R689H	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	689	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			ovary(1)	1		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)		CCCAGCGGGCGTGACCCTGAG	0.572													A	219301941	G	A	219301941	3	1	283	1	0	0	0	0	1	0	0	0	17161	1145	40	1	2128	1	VIL1	2	219301941	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1986222	219301941	23897432	209	145491											
PLCD4	84812	broad.mit.edu	37	chr2	219492818	219492818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctaaggatggagacaTcttcaacccagcctgcctcc	8	15	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219492818T>C	uc002vij.1	+	7	1034	c.839T>C	c.(838-840)ATC>ACC	p.I280T	PLCD4_uc002vik.1_Missense_Mutation_p.I127T|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	280					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GATGGAGACATCTTCAACCCA	0.527													C	219492818	T	C	219492818	3	2	283	1	0	0	0	0	1	0	0	0	12033	1435	50	3	861	3	PLCD4	2	219492818	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	190877	219492818	23706555	210	145492											
ZNF142	7701	broad.mit.edu	37	chr2	219513641	219513641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggcctccatggcttcGgctgtggcaaagagcatggg	17	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219513641G>A	uc002vin.2	-	6	1426	c.990C>T	c.(988-990)GCC>GCT	p.A330A	ZNF142_uc002vil.2_Silent_p.A291A|ZNF142_uc010fvt.2_Silent_p.A167A|ZNF142_uc002vim.2_Silent_p.A167A	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	330	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		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)		CCATGGCTTCGGCTGTGGCAA	0.562											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	219513641	G	A	219513641	2	1	283	1	0	0	0	0	0	0	0	1	17728	1103	39	1		1	ZNF142	2	219513641	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	20823	219513641	23685732	211	145493											
CCDC108	255101	broad.mit.edu	37	chr2	219893036	219893036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgggccaggtgtgtgcGgtaccaggtgaggtgctgag	19	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219893036G>A	uc002vjl.1	-	12	1822	c.1738C>T	c.(1738-1740)CGC>TGC	p.R580C	CCDC108_uc010fwa.1_Missense_Mutation_p.R23C|CCDC108_uc010zkp.1_Missense_Mutation_p.R569C|CCDC108_uc010zkq.1_Missense_Mutation_p.R515C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	580						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		AGGTGTGTGCGGTACCAGGTG	0.612													A	219893036	G	A	219893036	3	1	283	1	0	0	0	0	1	0	0	0	2743	1116	39	1	4135	1	CCDC108	2	219893036	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	379395	219893036	23306337	212	145494											
CCDC108	255101	broad.mit.edu	37	chr2	219894817	219894817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttggggtggaagaacacCgacacacatttcttctctcc	9	12	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:219894817C>T	uc002vjl.1	-	10	1359	c.1275G>A	c.(1273-1275)TCG>TCA	p.S425S	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.S414S|CCDC108_uc010zkq.1_Silent_p.S360S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	425						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		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)		GGAAGAACACCGACACACATT	0.547											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	219894817	C	T	219894817	2	4	283	1	0	0	0	0	0	0	0	1	2743	639	23	1		1	CCDC108	2	219894817	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1781	219894817	23304556	213	145495											
GLB1L	79411	broad.mit.edu	37	chr2	220104675	220104675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtggtatagagtccccGgagggagccacacttgagtc	13	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220104675G>A	uc002vkm.2	-	7	927	c.688C>T	c.(688-690)CGG>TGG	p.R230W	GLB1L_uc002vkk.2_Intron|GLB1L_uc010zkx.1_Intron|GLB1L_uc002vkn.2_Missense_Mutation_p.R230W	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like precursor	230					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds				0		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGAGTCCCCGGAGGGAGCCA	0.532													A	220104675	G	A	220104675	3	1	283	1	0	0	0	0	1	0	0	0	6428	1115	39	1	1320	1	GLB1L	2	220104675	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	209858	220104675	23094698	214	145496											
DNAJB2	3300	broad.mit.edu	37	chr2	220147591	220147591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcagagcttcagaacCggggttcccgacactcaggc	10	15	3	2	rs34872934		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220147591C>T	uc002vkx.1	+	6	622	c.385C>T	c.(385-387)CGG>TGG	p.R129W	DNAJB2_uc002vkw.1_Missense_Mutation_p.R129W|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	129					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				0		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)		GCTTCAGAACCGGGGTTCCCG	0.532													T	220147591	C	T	220147591	3	4	283	1	0	0	0	0	1	0	0	0	4620	643	23	1	403	1	DNAJB2	2	220147591	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	42916	220147591	23051782	215	145497											
SPEG	10290	broad.mit.edu	37	chr2	220348798	220348798	+	Frame_Shift_Del	DEL	C	C	-													cacctagtgatgctccgcagCcccccgcaccccagcctgcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220348797_220348797GC>G	uc010fwg.3	+	29	6612	c.6612_6612GC>G	c.(6610-6612)cagfs	p.Q2204fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2204	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)		ATGCTCCGCAGCCCCCCGCAC	0.682													-	220348798	C	-	220348798	7	5	283	1	0	1	0	1	0	0	0	0	15035	739	26	0	6743	0	SPEG	2	220348798	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	201207	220348798	22850575	216	145498											
OBSL1	23363	broad.mit.edu	37	chr2	220419341	220419341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcctggatacagctgTactccaccccgggcccactc	10	16	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220419341T>C	uc010fwk.2	-	15	4788	c.4731A>G	c.(4729-4731)GTA>GTG	p.V1577V		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1577					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		GATACAGCTGTACTCCACCCC	0.647													C	220419341	T	C	220419341	2	2	283	1	0	0	0	0	0	0	0	1	10813	1625	57	3		3	OBSL1	2	220419341	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	70543	220419341	22780032	217	145499											
OBSL1	23363	broad.mit.edu	37	chr2	220431817	220431817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgtatacctgcacatcCtccagacctgccaccaggcg	8	18	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220431817C>A	uc010fwk.2	-	5	1926	c.1869G>T	c.(1867-1869)GAG>GAT	p.E623D	OBSL1_uc010fwl.1_Missense_Mutation_p.E98D|OBSL1_uc002vmi.2_Missense_Mutation_p.E623D|OBSL1_uc002vmj.2_Missense_Mutation_p.E210D	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	623					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		CCTGCACATCCTCCAGACCTG	0.587													A	220431817	C	A	220431817	3	1	283	1	0	0	0	0	1	0	0	0	10813	680	24	5	4041	5	OBSL1	2	220431817	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	12476	220431817	22767556	218	145500											
OBSL1	23363	broad.mit.edu	37	chr2	220433041	220433041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtgtgaaccggaggcGgggctctgtggagaggggag	23	7	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:220433041G>A	uc010fwk.2	-	2	1075	c.1018C>T	c.(1018-1020)CGC>TGC	p.R340C	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R340C|OBSL1_uc002vmj.2_5'UTR	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	340	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		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)		AACCGGAGGCGGGGCTCTGTG	0.612											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	220433041	G	A	220433041	3	1	283	1	0	0	0	0	1	0	0	0	10813	1116	39	1	4904	1	OBSL1	2	220433041	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1224	220433041	22766332	219	145501											
COL4A3	1285	broad.mit.edu	37	chr2	228155478	228155478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggttctaaaggaaaaaGgggaactttgggattcccag	12	6	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:228155478G>A	uc002vom.1	+	37	3248	c.3086G>A	c.(3085-3087)AGG>AAG	p.R1029K	COL4A3_uc002von.1_Missense_Mutation_p.R1029K|COL4A3_uc002voo.1_Missense_Mutation_p.R1029K|COL4A3_uc002vop.1_Missense_Mutation_p.R1029K|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1029	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			skin(2)|ovary(1)	3		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)		AAAGGAAAAAGGGGAACTTTG	0.423													A	228155478	G	A	228155478	3	1	283	1	0	0	0	0	1	0	0	0	3691	1000	35	4	3232	4	COL4A3	2	228155478	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7722437	228155478	15043895	220	145502											
SPHKAP	80309	broad.mit.edu	37	chr2	228883795	228883795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcagaagcctcagctGcaggcgggaggctaccactt	13	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:228883795G>T	uc002vpq.2	-	7	1822	c.1775C>A	c.(1774-1776)GCA>GAA	p.A592E	SPHKAP_uc002vpp.2_Missense_Mutation_p.A592E|SPHKAP_uc010zlx.1_Missense_Mutation_p.A592E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	592						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		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)		AGCCTCAGCTGCAGGCGGGAG	0.577													T	228883795	G	T	228883795	3	4	283	1	0	0	0	0	1	0	0	0	15047	1319	46	5	3351	5	SPHKAP	2	228883795	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	728317	228883795	14315578	221	145503											
SP100	6672	broad.mit.edu	37	chr2	231307780	231307780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattcctcgagggcctccGtgatcgtgatctcatcacaa	8	14	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:231307780G>A	uc002vqt.2	+	3	377	c.236G>A	c.(235-237)CGT>CAT	p.R79H	SP100_uc002vqs.2_Missense_Mutation_p.R79H|SP100_uc002vqu.1_Missense_Mutation_p.R79H|SP100_uc010zmb.1_Missense_Mutation_p.R79H|SP100_uc002vqq.1_Missense_Mutation_p.R79H|SP100_uc002vqr.1_Missense_Mutation_p.R54H|SP100_uc010zmc.1_Missense_Mutation_p.R54H|SP100_uc002vqv.1_Missense_Mutation_p.R43H	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	79	HSR.				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 transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(4)|central_nervous_system(1)	5		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)		GAGGGCCTCCGTGATCGTGAT	0.363													A	231307780	G	A	231307780	3	1	283	1	0	0	0	0	1	0	0	0	14960	1145	40	1	246	1	SP100	2	231307780	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2423985	231307780	11891593	222	145504											
NCL	4691	broad.mit.edu	37	chr2	232326264	232326264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttaccatcttcctcatcGtcatcgtcatcctcatcatc	2	17	6	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:232326264G>A	uc002vru.2	-	3	741	c.600C>T	c.(598-600)GAC>GAT	p.D200D	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	200	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		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)		cttcctcatcgtcatcgtcat	0.323													A	232326264	G	A	232326264	2	1	283	1	0	0	0	0	0	0	0	1	10226	1136	40	1		1	NCL	2	232326264	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1018484	232326264	10873109	223	145505											
ALPP	250	broad.mit.edu	37	chr2	233246288	233246288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtggcggtgttcgcgcGcggcccgcaggcgcacctgg	19	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:233246288G>A	uc002vsq.2	+	11	1556	c.1391G>A	c.(1390-1392)CGC>CAC	p.R464H	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	464						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		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)		GTGTTCGCGCGCGGCCCGCAG	0.682													A	233246288	G	A	233246288	3	1	283	1	0	0	0	0	1	0	0	0	548	1087	38	1	1433	1	ALPP	2	233246288	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	920024	233246288	9953085	224	145506											
SAG	6295	broad.mit.edu	37	chr2	234247347	234247347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagggcatagaccggaccGtcctgggaatcctggtgtct	15	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234247347G>A	uc002vuh.2	+	12	1358	c.970G>A	c.(970-972)GTC>ATC	p.V324I	SAG_uc010zmq.1_Missense_Mutation_p.V190I	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	324					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		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)		AGACCGGACCGTCCTGGGAAT	0.547													A	234247347	G	A	234247347	3	1	283	1	0	0	0	0	1	0	0	0	13808	1145	40	1	1012	1	SAG	2	234247347	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1001059	234247347	8952026	225	145507											
DGKD	8527	broad.mit.edu	37	chr2	234356822	234356822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcggtggtcatctcctcGgccaagtgagtgcctggtgg	14	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234356822G>A	uc002vui.1	+	13	1521	c.1509G>A	c.(1507-1509)TCG>TCA	p.S503S	DGKD_uc002vuj.1_Silent_p.S459S|DGKD_uc010fyh.1_Silent_p.S370S|DGKD_uc010fyi.1_RNA	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	503					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|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		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)	TCATCTCCTCGGCCAAGTGAG	0.577													A	234356822	G	A	234356822	2	1	283	1	0	0	0	0	0	0	0	1	4467	1103	39	1		1	DGKD	2	234356822	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	109475	234356822	8842551	226	145508											
USP40	55230	broad.mit.edu	37	chr2	234398032	234398032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtggctgccggtcagttCgtaaaagcctgcctgggcgc	15	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234398032C>T	uc010zmr.1	-	26	3143	c.3143G>A	c.(3142-3144)CGA>CAA	p.R1048Q	USP40_uc002vul.2_Missense_Mutation_p.R32Q|USP40_uc010zms.1_Missense_Mutation_p.R146Q|USP40_uc002vun.2_Missense_Mutation_p.R212Q	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	1036					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		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)		CCGGTCAGTTCGTAAAAGCCT	0.612													T	234398032	C	T	234398032	3	4	283	1	0	0	0	0	1	0	0	0	17069	884	31	1	624	1	USP40	2	234398032	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	41210	234398032	8801341	227	145509											
USP40	55230	broad.mit.edu	37	chr2	234442369	234442369	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagaactattcttcaagagAcgaactgtactttcatctga	7	8	4	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234442369A>T	uc010zmr.1	-	10	1260	c.1260T>A	c.(1258-1260)CGT>CGA	p.R420R	USP40_uc010zmt.1_Silent_p.R64R	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	408					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		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)		TCTTCAAGAGACGAACTGTAC	0.353													T	234442369	A	T	234442369	2	4	283	1	0	0	0	0	0	0	0	1	17069	262	10	5		5	USP40	2	234442369	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	44337	234442369	8757004	228	145510											
DNAJB3	414061	broad.mit.edu	37	chr2	234652188	234652189	+	Frame_Shift_Ins	INS	-	-	C													tccccagcagttcctctgacINSccccccaaaatattctccag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:234652187_234652188A>AC	uc002vuz.3	-	0	474_475	c.375_376T>GT	c.(373-378)gggtcafs	p.G125fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	125					protein folding		heat shock protein binding|unfolded protein binding										AGTTCCTCTGACCCCCCCAAAA	0.54													C	234652189	-	C	234652188	7	5	283	1	0	1	1	0	0	0	0	0	4621	494	18	0	66	0	DNAJB3	2	234652188	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	209819	234652188	8547185	229	145511											
GBX2	2637	broad.mit.edu	37	chr2	237074648	237074648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgacgatcttagggttcCgggagggctcccctgtcttg	15	11	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:237074648C>T	uc002vvw.1	-	2	994	c.956G>A	c.(955-957)CGG>CAG	p.R319Q	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	319						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CTTAGGGTTCCGGGAGGGCTC	0.592													T	237074648	C	T	237074648	3	4	283	1	0	0	0	0	1	0	0	0	6281	652	23	1	94	1	GBX2	2	237074648	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2422460	237074648	6124725	230	145512											
COL6A3	1293	broad.mit.edu	37	chr2	238277429	238277429	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggaacggatcacctgggcGaacctggacacatcgtcctg	13	12	1	0	rs147215386		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:238277429G>A	uc002vwl.2	-	10	4962	c.4677C>T	c.(4675-4677)TTC>TTT	p.F1559F	COL6A3_uc002vwo.2_Silent_p.F1353F|COL6A3_uc010znj.1_Silent_p.F952F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1559	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		TCACCTGGGCGAACCTGGACA	0.572													A	238277429	G	A	238277429	2	1	283	1	0	0	0	0	0	0	0	1	3701	1049	37	1		1	COL6A3	2	238277429	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1202781	238277429	4921944	231	145513											
ILKAP	80895	broad.mit.edu	37	chr2	239102960	239102960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcatcaaaaagcaaaGgtccccctgatcctgaaaca	8	11	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:239102960G>T	uc002vxv.2	-	3	264	c.134C>A	c.(133-135)CCT>CAT	p.P45H	ILKAP_uc010zns.1_5'UTR|ILKAP_uc002vxw.2_5'UTR|ILKAP_uc010znt.1_5'UTR	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	45						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		AAAAAGCAAAGGTCCCCCTGA	0.433													T	239102960	G	T	239102960	3	4	283	1	0	0	0	0	1	0	0	0	7714	1000	35	5	1084	5	ILKAP	2	239102960	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	825531	239102960	4096413	232	145514											
GPC1	2817	broad.mit.edu	37	chr2	241404611	241404611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgaccgctgctggaacGggatggccagaggccggtag	18	9	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:241404611G>A	uc002vyw.3	+	7	1473	c.1252G>A	c.(1252-1254)GGG>AGG	p.G418R		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	418					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		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)		CTGCTGGAACGGGATGGCCAG	0.667													A	241404611	G	A	241404611	3	1	283	1	0	0	0	0	1	0	0	0	6597	1116	39	1	1278	1	GPC1	2	241404611	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2301651	241404611	1794762	233	145515											
FARP2	9855	broad.mit.edu	37	chr2	242432735	242432735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccactggccagcctcccgCtgctgggctacagcgtgagc	12	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:242432735C>T	uc002wbi.1	+	26	3040	c.2923C>T	c.(2923-2925)CTG>TTG	p.L975L		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	975	PH 2.				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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		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)		CAGCCTCCCGCTGCTGGGCTA	0.582													T	242432735	C	T	242432735	2	4	283	1	0	0	0	0	0	0	0	1	5677	796	28	2		2	FARP2	2	242432735	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1028124	242432735	766638	234	145516											
D2HGDH	728294	broad.mit.edu	37	chr2	242681982	242681982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcctcagcttccacagCgtgtctggtaagcctgtgcc	12	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr2:242681982C>T	uc002wce.1	+	4	656	c.483C>T	c.(481-483)AGC>AGT	p.S161S	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Silent_p.S27S|D2HGDH_uc002wcg.1_RNA	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	161	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				0		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)		GCTTCCACAGCGTGTCTGGTA	0.637													T	242681982	C	T	242681982	2	4	283	1	0	0	0	0	0	0	0	1	4213	767	27	1		1	D2HGDH	2	242681982	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	249247	242681982	517391	235	145517											
CNTN6	27255	broad.mit.edu	37	chr3	1414122	1414122	+	Frame_Shift_Del	DEL	A	A	-													aatggagatgtcatagacttAaaaaaaggagtggctcattt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:1414121_1414121TA>T	uc003boz.3	+	12	1898	c.1631_1631TA>T	c.(1630-1632)ttafs	p.L544fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.L472fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.L544fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	544	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	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)		GTCATAGACTTAAAAAAAGGA	0.378													-	1414122	A	-	1414122	7	5	283	1	0	1	0	1	0	0	0	0	3645	359	13	0	1678	0	CNTN6	3	1414122	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08		1414122	196608308	236	145518											
ITPR1	3708	broad.mit.edu	37	chr3	4715042	4715042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatatgcccgcctctggtcGgagattccctcggagatcgc	11	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:4715042G>A	uc003bqa.2	+	21	2775	c.2427G>A	c.(2425-2427)TCG>TCA	p.S809S	ITPR1_uc010hca.1_Silent_p.S794S|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.S794S	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	809	Cytoplasmic (Potential).				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			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCTCTGGTCGGAGATTCCCT	0.547													A	4715042	G	A	4715042	2	1	283	1	0	0	0	0	0	0	0	1	7920	1103	39	1		1	ITPR1	3	4715042	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3300920	4715042	193307388	237	145519											
RAD18	56852	broad.mit.edu	37	chr3	8944121	8944121	+	Frame_Shift_Del	DEL	T	T	-													ttcttttgttattgttactgTtttttgtgacattccagcaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:8944121delT	uc003brd.2	-	10	1188	c.1111delA	c.(1111-1113)ACAfs	p.T371fs	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	371					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATTGTTACTGTTTTTTGTGAC	0.318								Rad6_pathway					-	8944121	T	-	8944121	7	5	283	1	0	1	0	1	0	0	0	0	12980	1725	60	0	392	0	RAD18	3	8944121	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	4229079	8944121	189078309	238	145520											
TADA3	10474	broad.mit.edu	37	chr3	9831424	9831424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcatttttggggatcCgtggcacgtcgatagggtca	15	8	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:9831424C>T	uc003bsx.1	-	3	979	c.431G>A	c.(430-432)CGG>CAG	p.R144Q	TADA3_uc010hcn.1_Missense_Mutation_p.R144Q|TADA3_uc003bsy.2_Missense_Mutation_p.R144Q|ARPC4_uc003bsz.1_5'Flank|ARPC4_uc003bta.1_5'Flank|ARPC4_uc003btb.1_5'Flank|ARPC4_uc003btc.1_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	144					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						TTTGGGGATCCGTGGCACGTC	0.592													T	9831424	C	T	9831424	3	4	283	1	0	0	0	0	1	0	0	0	15509	652	23	1	899	1	TADA3	3	9831424	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	887303	9831424	188191006	239	145521											
PPARG	5468	broad.mit.edu	37	chr3	12422929	12422929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatggcaattgaatgtcGtgtctgtggagataaagctt	11	7	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:12422929G>A	uc003bwx.2	+	3	510	c.419G>A	c.(418-420)CGT>CAT	p.R140H	PPARG_uc003bwr.2_Missense_Mutation_p.R112H|PPARG_uc003bws.2_Missense_Mutation_p.R112H|PPARG_uc003bwu.2_Missense_Mutation_p.R112H|PPARG_uc003bwv.2_Missense_Mutation_p.R112H|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Missense_Mutation_p.R112H|PPARG_uc003bwt.1_Missense_Mutation_p.R112H|PPARG_uc003bww.1_Missense_Mutation_p.R140H	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	140	Nuclear receptor.|NR C4-type.				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			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATTGAATGTCGTGTCTGTGGA	0.398			T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						A	12422929	G	A	12422929	3	1	283	1	0	0	0	0	1	0	0	0	12299	1145	40	1	429	1	PPARG	3	12422929	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2591505	12422929	185599501	240	145522											
TMEM40	55287	broad.mit.edu	37	chr3	12778317	12778317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcaaagcacaggaggaCgaaatggaaaaactcatctg	12	7	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:12778317C>T	uc003bxg.1	-	9	617	c.490G>A	c.(490-492)GTC>ATC	p.V164I	TMEM40_uc003bxh.1_Missense_Mutation_p.V134I|TMEM40_uc003bxi.1_Missense_Mutation_p.V88I|TMEM40_uc011auv.1_Missense_Mutation_p.V180I	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	164	Helical; (Potential).					integral to membrane					0						CACAGGAGGACGAAATGGAAA	0.433													T	12778317	C	T	12778317	3	4	283	1	0	0	0	0	1	0	0	0	16160	536	19	1	227	1	TMEM40	3	12778317	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	355388	12778317	185244113	241	145523											
GRIP2	80852	broad.mit.edu	37	chr3	14564512	14564512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctcggctcacctgtcGgcagggccaccgggccgcac	13	18	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:14564512G>A	uc011avi.1	-	7	852	c.852C>T	c.(850-852)GCC>GCT	p.A284A	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	187	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CTCACCTGTCGGCAGGGCCAC	0.458													A	14564512	G	A	14564512	2	1	283	1	0	0	0	0	0	0	0	1	6788	1103	39	1		1	GRIP2	3	14564512	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1786195	14564512	183457918	242	145524											
FGD5	152273	broad.mit.edu	37	chr3	14862390	14862390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaccaccttccgtccagCggcacctccacgccttcttc	6	19	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:14862390C>T	uc003bzc.2	+	1	1922	c.1812C>T	c.(1810-1812)AGC>AGT	p.S604S	FGD5_uc011avk.1_Silent_p.S604S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	604					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			ovary(3)|kidney(1)|pancreas(1)	5						TTCCGTCCAGCGGCACCTCCA	0.542													T	14862390	C	T	14862390	2	4	283	1	0	0	0	0	0	0	0	1	5836	767	27	1		1	FGD5	3	14862390	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	297878	14862390	183160040	243	145525											
FGD5	152273	broad.mit.edu	37	chr3	14941914	14941914	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatcctgccaacagactaTttaaacaacctttgtccgga	5	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:14941914T>C	uc003bzc.2	+	8	3269	c.3159T>C	c.(3157-3159)TAT>TAC	p.Y1053Y	FGD5_uc011avk.1_Silent_p.Y1053Y|FGD5_uc003bzd.2_Silent_p.Y131Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1053	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			ovary(3)|kidney(1)|pancreas(1)	5						CAACAGACTATTTAAACAACC	0.567													C	14941914	T	C	14941914	2	2	283	1	0	0	0	0	0	0	0	1	5836	1500	52	3		3	FGD5	3	14941914	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	79524	14941914	183080516	244	145526											
HACL1	26061	broad.mit.edu	37	chr3	15604925	15604925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagagaaggtttagttgtGtctgctaggctctgcctcag	12	7	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:15604925G>A	uc003caf.2	-	16	1804	c.1644C>T	c.(1642-1644)GAC>GAT	p.D548D	HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Silent_p.D521D|HACL1_uc011avt.1_Silent_p.D488D|HACL1_uc003cag.2_Silent_p.D192D|HACL1_uc011avu.1_Silent_p.D466D|HACL1_uc010hep.2_Silent_p.D307D	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	2-hydroxyphytanoyl-CoA lyase	548					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding				0						GTTTAGTTGTGTCTGCTAGGC	0.433													A	15604925	G	A	15604925	2	1	283	1	0	0	0	0	0	0	0	1	6941	1368	48	4		4	HACL1	3	15604925	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	663011	15604925	182417505	245	145527											
TBC1D5	9779	broad.mit.edu	37	chr3	17550029	17550029	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttgttcttctggctgcaGaggatgtctagtttcagata	10	7	5	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:17550029G>A	uc003cbf.2	-	3	1699	c.34C>T	c.(34-36)CTG>TTG	p.L12L	TBC1D5_uc010hev.2_Silent_p.L12L|TBC1D5_uc003cbe.2_Silent_p.L12L	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	12						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCTGGCTGCAGAGGATGTCTA	0.408													A	17550029	G	A	17550029	2	1	283	1	0	0	0	0	0	0	0	1	15620	933	33	4		4	TBC1D5	3	17550029	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1945104	17550029	180472401	246	145528											
OXSM	54995	broad.mit.edu	37	chr3	25833299	25833299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaactcagatcccaagttggCatgtcgaccatttcatccaa	6	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:25833299C>A	uc003cdn.2	+	2	895	c.788C>A	c.(787-789)GCA>GAA	p.A263E	NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Intron	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	263					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						CCCAAGTTGGCATGTCGACCA	0.483													A	25833299	C	A	25833299	3	1	283	1	0	0	0	0	1	0	0	0	11335	710	25	5	790	5	OXSM	3	25833299	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	8283270	25833299	172189131	247	145529											
CMTM8	152189	broad.mit.edu	37	chr3	32409430	32409430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtagatgcatcttccGtctcccctgagagggacagt	11	11	2	2	rs149787700		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:32409430G>A	uc003cex.2	+	3	682	c.388G>A	c.(388-390)GTC>ATC	p.V130I	CMTM8_uc010hfu.2_Missense_Mutation_p.V72I	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	130	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						TGCATCTTCCGTCTCCCCTGA	0.582													A	32409430	G	A	32409430	3	1	283	1	0	0	0	0	1	0	0	0	3589	1145	40	1	398	1	CMTM8	3	32409430	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6576131	32409430	165613000	248	145530											
TRIM71	131405	broad.mit.edu	37	chr3	32860361	32860361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgccctttcccggcccGcccttctccatcctctcagt	8	21	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:32860361G>A	uc003cff.2	+	1	852	c.789G>A	c.(787-789)CCG>CCA	p.P263P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	263					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						TTCCCGGCCCGCCCTTCTCCA	0.697													A	32860361	G	A	32860361	2	1	283	1	0	0	0	0	0	0	0	1	16541	1074	38	1		1	TRIM71	3	32860361	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	450931	32860361	165162069	249	145531											
PDCD6IP	10015	broad.mit.edu	37	chr3	33866819	33866819	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagaagtattttttttAaaagccacaagaggtaactc	7	7	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:33866819A>T	uc003cfx.2	+	5	758	c.603A>T	c.(601-603)TTA>TTT	p.L201F	PDCD6IP_uc011axv.1_Missense_Mutation_p.L201F|PDCD6IP_uc003cfy.2_Missense_Mutation_p.L201F	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	201	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						TATTTTTTTTAAAAGCCACAA	0.358													T	33866819	A	T	33866819	3	4	283	1	0	0	0	0	1	0	0	0	11624	359	13	5	621	5	PDCD6IP	3	33866819	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1006458	33866819	164155611	250	145532											
CTDSPL	10217	broad.mit.edu	37	chr3	38017361	38017361	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgacaattcccctgcctcAtacatcttccatcctgagaa	5	14	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:38017361A>G	uc003chg.2	+	7	703	c.681A>G	c.(679-681)TCA>TCG	p.S227S	CTDSPL_uc003chh.2_Silent_p.S216S|CTDSPL_uc003chi.2_RNA	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	small CTD phosphatase 3 isoform 1	227	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity				0		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CCCCTGCCTCATACATCTTCC	0.498													G	38017361	A	G	38017361	2	3	283	1	0	0	0	0	0	0	0	1	4005	204	8	3		3	CTDSPL	3	38017361	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	4150542	38017361	160005069	251	145533											
ACVR2B	93	broad.mit.edu	37	chr3	38524050	38524050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcactggttgaaacaccCggtaaggggcctggttcagg	14	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:38524050C>T	uc003cif.2	+	10	1367	c.1343C>T	c.(1342-1344)CCG>CTG	p.P448L	ACVR2B_uc003cig.2_Missense_Mutation_p.P239L	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	448	Cytoplasmic (Potential).|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)		TTGAAACACCCGGTAAGGGGC	0.537													T	38524050	C	T	38524050	3	4	283	1	0	0	0	0	1	0	0	0	224	666	23	1	1381	1	ACVR2B	3	38524050	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	506689	38524050	159498380	252	145534											
SCN5A	6331	broad.mit.edu	37	chr3	38592162	38592162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccatggccgacacctcttCgtgcttgcgccggagtgtgg	13	13	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:38592162C>T	uc003cio.2	-	28	5895	c.5701G>A	c.(5701-5703)GAA>AAA	p.E1901K	SCN5A_uc003cin.2_Missense_Mutation_p.E1900K|SCN5A_uc003cil.3_Missense_Mutation_p.E1901K|SCN5A_uc010hhi.2_Missense_Mutation_p.E1883K|SCN5A_uc010hhk.2_Missense_Mutation_p.E1868K|SCN5A_uc011ayr.1_Missense_Mutation_p.E1847K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1901	IQ.				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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	GACACCTCTTCGTGCTTGCGC	0.592													T	38592162	C	T	38592162	3	4	283	1	0	0	0	0	1	0	0	0	13922	893	31	1	353	1	SCN5A	3	38592162	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	68112	38592162	159430268	253	145535											
SEC22C	9117	broad.mit.edu	37	chr3	42605166	42605166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccatgcaggccacgtccccGaaagaagaaaaactgaaaca	9	12	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:42605166G>A	uc003clj.2	-	3	313	c.195C>T	c.(193-195)TTC>TTT	p.F65F	SEC22C_uc003clh.2_Silent_p.F65F|SEC22C_uc011azo.1_5'UTR|SEC22C_uc010hic.2_Silent_p.F65F|SEC22C_uc003cli.2_Silent_p.F65F	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C	65	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCACGTCCCCGAAAGAAGAAA	0.512													A	42605166	G	A	42605166	2	1	283	1	0	0	0	0	0	0	0	1	13990	1049	37	1		1	SEC22C	3	42605166	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4013004	42605166	155417264	254	145536											
ZNF445	353274	broad.mit.edu	37	chr3	44489494	44489494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggtttctcggtgcagacGgtaggctgacaggcgtcgga	17	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44489494G>A	uc003cnf.2	-	8	2017	c.1669C>T	c.(1669-1671)CGT>TGT	p.R557C	ZNF445_uc011azv.1_Missense_Mutation_p.R545C|ZNF445_uc011azw.1_Missense_Mutation_p.R557C	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	557	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CGGTGCAGACGGTAGGCTGAC	0.463													A	44489494	G	A	44489494	3	1	283	1	0	0	0	0	1	0	0	0	17915	1116	39	1	1430	1	ZNF445	3	44489494	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1884328	44489494	153532936	255	145537											
ZNF502	91392	broad.mit.edu	37	chr3	44763579	44763579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagagcatttgccttattCggcaccagagaagtcacact	8	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44763579C>T	uc011baa.1	+	4	1525	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W	ZNF502_uc003cns.2_Missense_Mutation_p.R424W|ZNF502_uc011bab.1_Missense_Mutation_p.R424W|ZNF502_uc003cnt.2_Missense_Mutation_p.R424W	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	424	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TTGCCTTATTCGGCACCAGAG	0.438													T	44763579	C	T	44763579	3	4	283	1	0	0	0	0	1	0	0	0	17947	875	31	1	1276	1	ZNF502	3	44763579	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	274085	44763579	153258851	256	145538											
KIAA1143	57456	broad.mit.edu	37	chr3	44794850	44794850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacttactcattttcatcttCgttgtcaaaagaaaggaggc	7	9	4	1	rs144499231		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44794850C>T	uc011bac.1	-	3	527	c.448G>A	c.(448-450)GAA>AAA	p.E150K		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	150											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TTTTCATCTTCGTTGTCAAAA	0.259													T	44794850	C	T	44794850	3	4	283	1	0	0	0	0	1	0	0	0	8209	893	31	1	20	1	KIAA1143	3	44794850	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	31271	44794850	153227580	257	145539											
TGM4	7047	broad.mit.edu	37	chr3	44952776	44952776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacagttgcctaacacaggCagaattggccagctacttgt	9	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:44952776C>T	uc003coc.3	+	13	1864	c.1791C>T	c.(1789-1791)GGC>GGT	p.G597G		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	597					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTAACACAGGCAGAATTGGCC	0.522													T	44952776	C	T	44952776	2	4	283	1	0	0	0	0	0	0	0	1	15829	697	25	2		2	TGM4	3	44952776	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	157926	44952776	153069654	258	145540											
CCR1	1230	broad.mit.edu	37	chr3	46245704	46245704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagggggcagcagttggGccccaaaggccctctcgttc	14	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:46245704G>A	uc003cph.1	-	2	172	c.101C>T	c.(100-102)GCC>GTC	p.A34V	CCR3_uc003cpg.1_Intron	NM_001295	NP_001286	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	34	Extracellular (Potential).				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			skin(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGCAGTTGGGCCCCAAAGGC	0.517													A	46245704	G	A	46245704	3	1	283	1	0	0	0	0	1	0	0	0	2939	1203	42	2	970	2	CCR1	3	46245704	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1292928	46245704	151776726	259	145541											
PLXNB1	5364	broad.mit.edu	37	chr3	48455444	48455446	+	In_Frame_Del	DEL	CCT	CCT	-													atcccctatcatagccaccaCctcctccttggacattgcaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48455444_48455446delCCT	uc003csw.2	-	22	4514_4516	c.4244_4246delAGG	c.(4243-4248)GAGGTG>GTG	p.E1415del	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_In_Frame_Del_p.E1232del|PLXNB1_uc003csx.2_In_Frame_Del_p.E1415del|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1415	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGCCACCACCTCCTCCTTGGA	0.621													-	48455446	CCT	-	48455444	7	5	283	1	0	1	0	1	0	0	0	0	12123	507	18	0	2229	0	PLXNB1	3	48455444	In_Frame_Del	DEL	CCT	TCGA-HU-A4H8-01A-11D-A25D-08	2209740	48455444	149566986	260	145542											
PLXNB1	5364	broad.mit.edu	37	chr3	48459458	48459458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccgtctacaggcccaGtcagtggctccacctgttcc	9	17	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48459458G>A	uc003csw.2	-	16	3506	c.3236C>T	c.(3235-3237)ACT>ATT	p.T1079I	PLXNB1_uc003csu.2_Missense_Mutation_p.T896I|PLXNB1_uc003csx.2_Missense_Mutation_p.T1079I|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1079	IPT/TIG 1.|Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TACAGGCCCAGTCAGTGGCTC	0.632													A	48459458	G	A	48459458	3	1	283	1	0	0	0	0	1	0	0	0	12123	1029	36	4	3263	4	PLXNB1	3	48459458	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4014	48459458	149562972	261	145543											
COL7A1	1294	broad.mit.edu	37	chr3	48624754	48624754	+	Frame_Shift_Del	DEL	G	G	-													agatccctggaagtgtctgcGgggacccaggcacttctgca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48624754delG	uc003ctz.2	-	23	3009	c.3008delC	c.(3007-3009)CCGfs	p.P1003fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1003	Nonhelical region (NC1).|Fibronectin type-III 9.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGTGTCTGCGGGGACCCAGG	0.602													-	48624754	G	-	48624754	7	5	283	1	0	1	0	1	0	0	0	0	3704	1116	39	0	6210	0	COL7A1	3	48624754	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	165296	48624754	149397676	262	145544											
CELSR3	1951	broad.mit.edu	37	chr3	48696614	48696614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggacgtgcacagtggcccGgctgaccaaaggagcagatg	16	11	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:48696614G>A	uc003cul.2	-	1	3735	c.3454C>T	c.(3454-3456)CGG>TGG	p.R1152W	CELSR3_uc003cuf.1_Missense_Mutation_p.R1222W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1152	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGTGGCCCGGCTGACCAAA	0.517													A	48696614	G	A	48696614	3	1	283	1	0	0	0	0	1	0	0	0	3223	1115	39	1	6624	1	CELSR3	3	48696614	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	71860	48696614	149325816	263	145545											
P4HTM	54681	broad.mit.edu	37	chr3	49042450	49042450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataccaagctggtagccaaCgagtctgtacccttcgagac	9	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49042450C>T	uc003cvg.2	+	6	1393	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N	P4HTM_uc003cvh.2_Silent_p.N348N|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	348	Lumenal (Potential).|Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|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			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	TGGTAGCCAACGAGTCTGTAC	0.587													T	49042450	C	T	49042450	2	4	283	1	0	0	0	0	0	0	0	1	11360	535	19	1		1	P4HTM	3	49042450	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	345836	49042450	148979980	264	145546											
QRICH1	54870	broad.mit.edu	37	chr3	49083909	49083909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctgggtcatagggttcAccttctccatttcgagcttc	8	12	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49083909A>G	uc010hkq.2	-	6	1916	c.1620T>C	c.(1618-1620)GGT>GGC	p.G540G	QRICH1_uc003cvu.2_Silent_p.G540G|QRICH1_uc003cvv.2_Silent_p.G540G	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	540										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATAGGGTTCACCTTCTCCAT	0.453													G	49083909	A	G	49083909	2	3	283	1	0	0	0	0	0	0	0	1	12879	146	6	3		3	QRICH1	3	49083909	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	41459	49083909	148938521	265	145547											
USP4	7375	broad.mit.edu	37	chr3	49318216	49318216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccataatgattggacacggCaatgaggtcgtacacataag	10	8	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49318216C>T	uc003cwq.2	-	20	2684	c.2605G>A	c.(2605-2607)GCC>ACC	p.A869T	USP4_uc003cwo.2_Missense_Mutation_p.A581T|USP4_uc003cwp.2_Missense_Mutation_p.A599T|USP4_uc003cwr.2_Missense_Mutation_p.A822T	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	869					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			ovary(2)|urinary_tract(1)|lung(1)	4		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)		TTGGACACGGCAATGAGGTCG	0.453													T	49318216	C	T	49318216	3	4	283	1	0	0	0	0	1	0	0	0	17068	710	25	2	298	2	USP4	3	49318216	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	234307	49318216	148704214	266	145548											
BSN	8927	broad.mit.edu	37	chr3	49694655	49694655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtagtggcatcaagaagCggcactccatgccacgcctg	12	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49694655C>T	uc003cxe.3	+	5	7780	c.7666C>T	c.(7666-7668)CGG>TGG	p.R2556W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2556					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CATCAAGAAGCGGCACTCCAT	0.627													T	49694655	C	T	49694655	3	4	283	1	0	0	0	0	1	0	0	0	1530	759	27	1	7684	1	BSN	3	49694655	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	376439	49694655	148327775	267	145549											
GMPPB	29925	broad.mit.edu	37	chr3	49759471	49759471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacggatccgggcatccCgcagcaccgtgcaccgccgg	15	16	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49759471C>T	uc003cxk.1	-	8	1103	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.R293Q	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	293					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGGGCATCCCGCAGCACCGT	0.662													T	49759471	C	T	49759471	3	4	283	1	0	0	0	0	1	0	0	0	6495	652	23	1	289	1	GMPPB	3	49759471	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	64816	49759471	148262959	268	145550											
IP6K1	9807	broad.mit.edu	37	chr3	49775735	49775735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccggcgggagtgtttgCgccgaggttgctcccgttct	16	12	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49775735C>T	uc003cxm.1	-	3	659	c.344G>A	c.(343-345)CGC>CAC	p.R115H	IP6K1_uc003cxn.1_5'UTR|IP6K1_uc011bcv.1_5'UTR|IP6K1_uc003cxo.2_Missense_Mutation_p.R115H	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	115					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GGAGTGTTTGCGCCGAGGTTG	0.557													T	49775735	C	T	49775735	3	4	283	1	0	0	0	0	1	0	0	0	7788	768	27	1	997	1	IP6K1	3	49775735	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	16264	49775735	148246695	269	145551											
TRAIP	10293	broad.mit.edu	37	chr3	49869390	49869390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcgtagtaaccatgctgGgagctggagggccgggctgg	17	8	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:49869390G>A	uc003cxs.1	-	11	1102	c.996C>T	c.(994-996)TCC>TCT	p.S332S	TRAIP_uc010hla.1_Silent_p.S233S	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	332	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACCATGCTGGGAGCTGGAGG	0.532													A	49869390	G	A	49869390	2	1	283	1	0	0	0	0	0	0	0	1	16445	1219	43	4		4	TRAIP	3	49869390	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	93655	49869390	148153040	270	145552											
RBM5	10181	broad.mit.edu	37	chr3	50144924	50144924	+	Frame_Shift_Del	DEL	C	C	-													tgtggtttcagagacttggtCctctcagatggtaaccgcgt					rs138796501	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:50144924delC	uc003cyg.2	+	12	1111	c.963delC	c.(961-963)GTCfs	p.V321fs	RBM5_uc011bdj.1_Frame_Shift_Del_p.V265fs|RBM5_uc011bdk.1_Frame_Shift_Del_p.V149fs	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	321	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			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGACTTGGTCCTCTCAGATG	0.478													-	50144924	C	-	50144924	7	5	283	1	0	1	0	1	0	0	0	0	13143	842	30	0	1005	0	RBM5	3	50144924	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	275534	50144924	147877506	271	145553											
HYAL2	8692	broad.mit.edu	37	chr3	50357136	50357136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaagttgcggccatggCgggaggaagcaagtgtctcg	15	9	2	0	rs1050074		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:50357136C>T	uc003czu.2	-	2	1005	c.785G>A	c.(784-786)CGC>CAC	p.R262H	HYAL2_uc003czx.2_Missense_Mutation_p.R262H|HYAL2_uc003czv.2_Missense_Mutation_p.R262H|HYAL2_uc003czw.2_Missense_Mutation_p.R262H|HYAL2_uc010hlj.2_Missense_Mutation_p.R262H	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	262				SR -> AL (in Ref. 1; CAA03924).		anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GCGGCCATGGCGGGAGGAAGC	0.612													T	50357136	C	T	50357136	3	4	283	1	0	0	0	0	1	0	0	0	7464	768	27	1	648	1	HYAL2	3	50357136	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	212212	50357136	147665294	272	145554											
RASSF1	11186	broad.mit.edu	37	chr3	50369082	50369082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcctcaatgacttcaCgtgcccttgtgcgtgacagc	12	13	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:50369082C>T	uc003dad.1	-	4	811	c.680G>A	c.(679-681)CGT>CAT	p.R227H	RASSF1_uc003daa.1_Missense_Mutation_p.R72H|RASSF1_uc003dab.1_Missense_Mutation_p.R153H|RASSF1_uc003dac.2_Missense_Mutation_p.R72H|RASSF1_uc003dae.1_Missense_Mutation_p.R223H|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R72H	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	227	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGACTTCACGTGCCCTTGT	0.607													T	50369082	C	T	50369082	3	4	283	1	0	0	0	0	1	0	0	0	13084	536	19	1	366	1	RASSF1	3	50369082	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	11946	50369082	147653348	273	145555											
GRM2	2912	broad.mit.edu	37	chr3	51749692	51749692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggcagtgtgtaccttaCggcgtcttggtttgggcact	13	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:51749692C>T	uc010hlv.2	+	4	2142	c.1903C>T	c.(1903-1905)CGG>TGG	p.R635W	GRM2_uc003dbo.3_Missense_Mutation_p.R17W|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	635	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	GTGTACCTTACGGCGTCTTGG	0.587													T	51749692	C	T	51749692	3	4	283	1	0	0	0	0	1	0	0	0	6797	527	19	1	1913	1	GRM2	3	51749692	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1380610	51749692	146272738	274	145556											
IQCF1	132141	broad.mit.edu	37	chr3	51929174	51929174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggagaaggcctctagcGctgcctgccgcctcttcttc	11	16	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:51929174G>A	uc003dbv.2	-	4	448	c.350C>T	c.(349-351)GCG>GTG	p.A117V	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	117										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCCTCTAGCGCTGCCTGCCG	0.617													A	51929174	G	A	51929174	3	1	283	1	0	0	0	0	1	0	0	0	7807	1087	38	1	271	1	IQCF1	3	51929174	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	179482	51929174	146093256	275	145557											
DNAH1	25981	broad.mit.edu	37	chr3	52430481	52430481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatgaccattgagccgcCacgcggtgtcagggccaacc	12	14	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:52430481C>T	uc011bef.1	+	71	11618	c.11357C>T	c.(11356-11358)CCA>CTA	p.P3786L	DNAH1_uc003ddv.2_Missense_Mutation_p.P644L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3851	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			large_intestine(3)	3				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)		ATTGAGCCGCCACGCGGTGTC	0.587													T	52430481	C	T	52430481	3	4	283	1	0	0	0	0	1	0	0	0	4597	594	21	4	11635	4	DNAH1	3	52430481	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	501307	52430481	145591949	276	145558											
STAB1	23166	broad.mit.edu	37	chr3	52552861	52552861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacggccctctcagggcaCccactgcgcttcagcgagag	12	17	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:52552861C>T	uc003dej.2	+	48	5084	c.5010C>T	c.(5008-5010)CAC>CAT	p.H1670H	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1670	Extracellular (Potential).|FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				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)		TCTCAGGGCACCCACTGCGCT	0.562													T	52552861	C	T	52552861	2	4	283	1	0	0	0	0	0	0	0	1	15236	506	18	4		4	STAB1	3	52552861	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	122380	52552861	145469569	277	145559											
GNL3	26354	broad.mit.edu	37	chr3	52720836	52720836	+	Frame_Shift_Del	DEL	A	A	-													ccataagcggtataaaatccAaaaaaaggtaagtgtagtgc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:52720836delA	uc003dfd.2	+	2	238	c.65delA	c.(64-66)CAAfs	p.Q22fs	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Frame_Shift_Del_p.Q10fs|GNL3_uc003dff.2_Frame_Shift_Del_p.Q10fs|SNORD19_uc003dfg.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	22	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TATAAAATCCAAAAAAAGGTA	0.388													-	52720836	A	-	52720836	7	5	283	1	0	1	0	1	0	0	0	0	6537	130	5	0	71	0	GNL3	3	52720836	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	167975	52720836	145301594	278	145560											
LRTM1	57408	broad.mit.edu	37	chr3	54961972	54961972	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgtccttgctgacctcGtagaccctttaattaatgtg	10	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:54961972G>A	uc003dhl.2	-	1	101	c.-33C>T	c.(-35--31)TACGA>TATGA		CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1							integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGCTGACCTCGTAGACCCTTT	0.493													A	54961972	G	A	54961972	1	1	283	1	0	0	0	0	0	0	0	0	9044	1160	40	1		1	LRTM1	3	54961972	Translation_Start_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2241136	54961972	143060458	279	145561											
SUCLG2	8801	broad.mit.edu	37	chr3	67548713	67548713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttatcttggcatcaaaaCagacaactaaataaagaaga	6	6	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:67548713C>T	uc003dna.3	-	8	792	c.764G>A	c.(763-765)TGT>TAT	p.C255Y	SUCLG2_uc010hob.2_Intron	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	255	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		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)	GGCATCAAAACAGACAACTAA	0.353													T	67548713	C	T	67548713	3	4	283	1	0	0	0	0	1	0	0	0	15364	478	17	4	694	4	SUCLG2	3	67548713	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	12586741	67548713	130473717	280	145562											
DZIP3	9666	broad.mit.edu	37	chr3	108409725	108409725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccctggtcaccccagccGgcagttgcccaagatctgat	9	15	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:108409725G>A	uc003dxd.2	+	32	4030	c.3608G>A	c.(3607-3609)CGG>CAG	p.R1203Q	DZIP3_uc003dxf.1_Missense_Mutation_p.R1203Q|DZIP3_uc011bhm.1_Missense_Mutation_p.R654Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1203					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CACCCCAGCCGGCAGTTGCCC	0.478													A	108409725	G	A	108409725	3	1	283	1	0	0	0	0	1	0	0	0	4865	1116	39	1	3730	1	DZIP3	3	108409725	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	40861012	108409725	89612705	281	145563											
PHLDB2	90102	broad.mit.edu	37	chr3	111664163	111664163	+	Frame_Shift_Del	DEL	G	G	-													agaaatactccagcctctctGgggggaaagggtttcccgtt					rs144826196	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:111664163delG	uc010hqa.2	+	9	2857	c.2446delG	c.(2446-2448)GGGfs	p.G816fs	PHLDB2_uc003dyc.2_Frame_Shift_Del_p.G800fs|PHLDB2_uc003dyd.2_Frame_Shift_Del_p.G773fs|PHLDB2_uc003dyg.2_Frame_Shift_Del_p.G816fs|PHLDB2_uc003dyh.2_Frame_Shift_Del_p.G773fs|PHLDB2_uc003dyi.2_Frame_Shift_Del_p.G402fs	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	816						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CAGCCTCTCTGGGGGGAAAGG	0.373													-	111664163	G	-	111664163	7	5	283	1	0	1	0	1	0	0	0	0	11852	1348	47	0	2561	0	PHLDB2	3	111664163	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	3254438	111664163	86358267	282	145564											
BOC	91653	broad.mit.edu	37	chr3	112998721	112998721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaacatgctgggggagagcGagcccagcgccccctctcgg	15	14	1	2	rs141457641		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:112998721G>A	uc003dzx.2	+	13	2692	c.2071G>A	c.(2071-2073)GAG>AAG	p.E691K	BOC_uc003dzy.2_Missense_Mutation_p.E691K|BOC_uc003dzz.2_Missense_Mutation_p.E692K|BOC_uc003eab.2_Missense_Mutation_p.E392K|BOC_uc003eac.2_Missense_Mutation_p.E6K	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	691	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GGGGGAGAGCGAGCCCAGCGC	0.612													A	112998721	G	A	112998721	3	1	283	1	0	0	0	0	1	0	0	0	1481	1059	37	1	2113	1	BOC	3	112998721	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1334558	112998721	85023709	283	145565											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058004	+	Frame_Shift_Del	DEL	GG	GG	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:114058002_114058003AGG>A	uc003ebi.3	-	4	2255_2256	c.2075_2076CCT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	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)		GTGTGCCTGCAGGGGGGGTCCC	0.634													-	114058004	GG	-	114058003	7	5	283	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	GG	TCGA-HU-A4H8-01A-11D-A25D-08	1059282	114058003	83964427	284	145566											
ZBTB20	26137	broad.mit.edu	37	chr3	114069726	114069726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttcagcctggctgtccCgcgccgccccaggcccaaac	12	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:114069726C>T	uc003ebi.2	-	4	1379	c.1199G>A	c.(1198-1200)CGG>CAG	p.R400Q	ZBTB20_uc003ebj.2_Missense_Mutation_p.R327Q|ZBTB20_uc010hqp.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebk.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebl.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebm.2_Missense_Mutation_p.R327Q|ZBTB20_uc003ebn.2_Missense_Mutation_p.R327Q|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGGCTGTCCCGCGCCGCCCC	0.647													T	114069726	C	T	114069726	3	4	283	1	0	0	0	0	1	0	0	0	17526	652	23	1	1034	1	ZBTB20	3	114069726	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	11723	114069726	83952704	285	145567											
CD80	941	broad.mit.edu	37	chr3	119276481	119276481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaagttgcttacctgaaCagaagtgagaaagaccagcc	10	9	0	5			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:119276481C>G	uc003ecq.2	-	2	490	c.95G>C	c.(94-96)TGT>TCT	p.C32S	CD80_uc010hqt.1_Missense_Mutation_p.C32S|CD80_uc010hqu.1_Missense_Mutation_p.C32S|CD80_uc003ecr.1_Missense_Mutation_p.C32S	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	32					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			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	CTTACCTGAACAGAAGTGAGA	0.478													G	119276481	C	G	119276481	3	3	283	1	0	0	0	0	1	0	0	0	3038	478	17	5	791	5	CD80	3	119276481	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5206755	119276481	78745949	286	145568											
GOLGB1	2804	broad.mit.edu	37	chr3	121409851	121409852	+	Frame_Shift_Del	DEL	TC	TC	-													cggtttcagaaagaagagcaTctctctctctgtttaagagt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:121409850_121409851ATC>A	uc010hrc.3	-	13	8486_8487	c.8360_8361GAT>T	c.(8359-8361)gatfs	p.D2787fs	GOLGB1_uc003eei.4_Frame_Shift_Del_p.D2782fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.D2748fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.D2707fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2782					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)		AAAGAAGAGCATCTCTCTCTCT	0.426													-	121409852	TC	-	121409851	7	5	283	1	0	1	0	1	0	0	0	0	6565	1435	50	0	1470	0	GOLGB1	3	121409851	Frame_Shift_Del	DEL	TC	TCGA-HU-A4H8-01A-11D-A25D-08	2133370	121409851	76612579	287	145569											
PARP9	83666	broad.mit.edu	37	chr3	122247435	122247435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaggactcagtggtggggGaacaatatttaacggatgtc	13	7	1	0	rs147481687	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:122247435G>A	uc010hri.2	-	11	2486	c.2341C>T	c.(2341-2343)CCC>TCC	p.P781S	PARP9_uc003eff.3_Missense_Mutation_p.P746S|PARP9_uc011bjs.1_Missense_Mutation_p.P746S|PARP9_uc003efg.2_Missense_Mutation_p.P326S|PARP9_uc003efi.2_Missense_Mutation_p.P746S|PARP9_uc003efh.2_Missense_Mutation_p.P781S	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	781	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		AGTGGTGGGGGAACAATATTT	0.463													A	122247435	G	A	122247435	3	1	283	1	0	0	0	0	1	0	0	0	11466	1174	41	4	227	4	PARP9	3	122247435	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	837584	122247435	75774995	288	145570											
KALRN	8997	broad.mit.edu	37	chr3	124165071	124165071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctggaccttgaagaagcGgcggttagaccaatgccagc	12	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124165071G>A	uc003ehg.2	+	20	3498	c.3371G>A	c.(3370-3372)CGG>CAG	p.R1124Q	KALRN_uc010hrv.1_Missense_Mutation_p.R1115Q|KALRN_uc003ehf.1_Missense_Mutation_p.R1124Q|KALRN_uc011bjy.1_Missense_Mutation_p.R1115Q|KALRN_uc003ehh.1_Missense_Mutation_p.R470Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1124					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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TTGAAGAAGCGGCGGTTAGAC	0.552													A	124165071	G	A	124165071	3	1	283	1	0	0	0	0	1	0	0	0	7975	1116	39	1	3449	1	KALRN	3	124165071	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1917636	124165071	73857359	289	145571											
KALRN	8997	broad.mit.edu	37	chr3	124281775	124281775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatccaggtggggcagaCggtagagctgctggagcggc	18	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124281775C>T	uc003ehg.2	+	34	5142	c.5015C>T	c.(5014-5016)ACG>ATG	p.T1672M	KALRN_uc003ehi.2_Missense_Mutation_p.T45M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1672	SH3 1.				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			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTGGGGCAGACGGTAGAGCTG	0.662													T	124281775	C	T	124281775	3	4	283	1	0	0	0	0	1	0	0	0	7975	536	19	1	5216	1	KALRN	3	124281775	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	116704	124281775	73740655	290	145572											
HEG1	57493	broad.mit.edu	37	chr3	124748138	124748138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaagagccgctccttcCtctagcatctgctgtttcag	8	13	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124748138C>T	uc003ehs.3	-	2	579	c.511G>A	c.(511-513)GGA>AGA	p.G171R	HEG1_uc011bke.1_Missense_Mutation_p.G171R	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	171	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						CCGCTCCTTCCTCTAGCATCT	0.512													T	124748138	C	T	124748138	3	4	283	1	0	0	0	0	1	0	0	0	7044	690	24	4	3698	4	HEG1	3	124748138	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	466363	124748138	73274292	291	145573											
HEG1	57493	broad.mit.edu	37	chr3	124748159	124748159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagcatctgctgtttcagCgagtagagtgaggttttctg	12	7	4	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:124748159C>T	uc003ehs.3	-	2	558	c.490G>A	c.(490-492)GCT>ACT	p.A164T	HEG1_uc011bke.1_Missense_Mutation_p.A164T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	164	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GCTGTTTCAGCGAGTAGAGTG	0.502													T	124748159	C	T	124748159	3	4	283	1	0	0	0	0	1	0	0	0	7044	768	27	1	3719	1	HEG1	3	124748159	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	21	124748159	73274271	292	145574											
C3orf22	152065	broad.mit.edu	37	chr3	126268880	126268880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgctggtagtggtgccGggcaggagccagacggtgat	19	7	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:126268880G>A	uc003ejb.2	-	4	586	c.257C>T	c.(256-258)CCG>CTG	p.P86L		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	86											0				GBM - Glioblastoma multiforme(114;0.147)		TAGTGGTGCCGGGCAGGAGCC	0.607													A	126268880	G	A	126268880	3	1	283	1	0	0	0	0	1	0	0	0	2215	1116	39	1	172	1	C3orf22	3	126268880	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1520721	126268880	71753550	293	145575											
TPRA1	131601	broad.mit.edu	37	chr3	127294606	127294606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacaaggcagggagatgCgctccttcagcggggtcttg	15	11	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:127294606C>T	uc003ejl.2	-	7	947	c.656G>A	c.(655-657)CGC>CAC	p.R219H	TPRA1_uc003ejm.2_Intron|TPRA1_uc003ejo.2_Missense_Mutation_p.R219H|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Missense_Mutation_p.R219H	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	219					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						CAGGGAGATGCGCTCCTTCAG	0.652													T	127294606	C	T	127294606	3	4	283	1	0	0	0	0	1	0	0	0	16414	768	27	1	481	1	TPRA1	3	127294606	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1025726	127294606	70727824	294	145576											
ASTE1	28990	broad.mit.edu	37	chr3	130743390	130743390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagtcccaggattcggTggtgtctcctccctttagaa	10	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:130743390T>C	uc003env.1	-	3	1203	c.761A>G	c.(760-762)CAC>CGC	p.H254R	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.H254R|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	254					DNA repair		nuclease activity				0						CAGGATTCGGTGGTGTCTCCT	0.433													C	130743390	T	C	130743390	3	2	283	1	0	0	0	0	1	0	0	0	1062	1696	59	3	1294	3	ASTE1	3	130743390	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	3448784	130743390	67279040	295	145577											
MSL2	55167	broad.mit.edu	37	chr3	135870296	135870296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcagcgttggcctcggCatgtaagaacacttggattt	13	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:135870296C>T	uc003eqx.1	-	2	2160	c.1427G>A	c.(1426-1428)TGC>TAC	p.C476Y	MSL2_uc011bmb.1_Missense_Mutation_p.C402Y	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	476					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TTGGCCTCGGCATGTAAGAAC	0.473													T	135870296	C	T	135870296	3	4	283	1	0	0	0	0	1	0	0	0	9878	710	25	2	310	2	MSL2	3	135870296	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5126906	135870296	62152134	296	145578											
TXNDC6	347736	broad.mit.edu	37	chr3	138038392	138038392	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctcaccacaggtttgcaGgggccacaccagccttgata	11	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:138038392G>T	uc003esg.2	-	3	151	c.123C>A	c.(121-123)CCC>CCA	p.P41P	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Silent_p.P19P|TXNDC6_uc003ese.1_Silent_p.P19P	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	41	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						CAGGTTTGCAGGGGCCACACC	0.498													T	138038392	G	T	138038392	2	4	283	1	0	0	0	0	0	0	0	1	16797	987	35	5		5	TXNDC6	3	138038392	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2168096	138038392	59984038	297	145579											
PCOLCE2	26577	broad.mit.edu	37	chr3	142539759	142539759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgcagacgacagtcaGcctggcactcatgttcttgc	10	13	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:142539759G>A	uc003evd.2	-	8	1274	c.1078C>T	c.(1078-1080)CTG>TTG	p.L360L		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	360	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						ACGACAGTCAGCCTGGCACTC	0.532													A	142539759	G	A	142539759	2	1	283	1	0	0	0	0	0	0	0	1	11595	962	34	2		2	PCOLCE2	3	142539759	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4501367	142539759	55482671	298	145580											
ZIC1	7545	broad.mit.edu	37	chr3	147128515	147128515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaacgtgaacatggccGcgcatcacggcgccggcgcc	13	16	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:147128515G>A	uc003ewe.2	+	1	1335	c.616G>A	c.(616-618)GCG>ACG	p.A206T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	206					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			ovary(1)|central_nervous_system(1)	2						GAACATGGCCGCGCATCACGG	0.662													A	147128515	G	A	147128515	3	1	283	1	0	0	0	0	1	0	0	0	17675	1087	38	1	618	1	ZIC1	3	147128515	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4588756	147128515	50893915	299	145581											
MED12L	116931	broad.mit.edu	37	chr3	151078324	151078324	+	Frame_Shift_Del	DEL	T	T	-													ttcttcccctgaaagatgcaTtttagcctacctctatgatc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:151078323_151078323AT>A	uc003eyp.3	+	18	2911	c.2782_2782AT>A	c.(2782-2784)attfs	p.I928fs	MED12L_uc011bnz.2_Frame_Shift_Del_p.I788fs|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Frame_Shift_Del_p.I92fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	928					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)			TGAAAGATGCATTTTAGCCTA	0.408													-	151078324	T	-	151078324	7	5	283	1	0	1	0	1	0	0	0	0	9429	1493	52	0	2857	0	MED12L	3	151078324	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	3949809	151078324	46944106	300	145582											
IGSF10	285313	broad.mit.edu	37	chr3	151171553	151171553	+	Frame_Shift_Del	DEL	T	T	-													tcggactttattatagctcaTttttaagacctatgaattaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:151171552_151171552AT>A	uc011bod.2	-	2	335	c.335_335AT>T	c.(334-336)atgfs	p.M112fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	112					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)			ATTATAGCTCATTTTTAAGAC	0.308													-	151171553	T	-	151171553	7	5	283	1	0	1	0	1	0	0	0	0	7597	1493	52	0	7601	0	IGSF10	3	151171553	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	93229	151171553	46850877	301	145583											
OTOL1	131149	broad.mit.edu	37	chr3	161214699	161214699	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taccaaatttacgaagaaatCtgaggaaagagagatgccaa	9	6	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:161214699C>A	uc011bpb.1	+	1	104	c.104C>A	c.(103-105)TCT>TAT	p.S35Y		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	35						collagen					0						ACGAAGAAATCTGAGGAAAGA	0.418													A	161214699	C	A	161214699	3	1	283	1	0	0	0	0	1	0	0	0	11304	913	32	5	106	5	OTOL1	3	161214699	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10043146	161214699	36807731	302	145584											
PRKCI	5584	broad.mit.edu	37	chr3	169999697	169999697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttatagagtatgtaaaTggaggagacctaatgtttca	10	3	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:169999697T>C	uc003fgs.2	+	11	1246	c.1008T>C	c.(1006-1008)AAT>AAC	p.N336N		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	336	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGTATGTAAATGGAGGAGACC	0.358													C	169999697	T	C	169999697	2	2	283	1	0	0	0	0	0	0	0	1	12514	1461	51	3		3	PRKCI	3	169999697	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	8784998	169999697	28022733	303	145585											
SLC7A14	57709	broad.mit.edu	37	chr3	170204021	170204021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacttacagacacatatGctgtcaggcagatgaccagg	11	9	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:170204021G>A	uc003fgz.2	-	5	1212	c.896C>T	c.(895-897)GCA>GTA	p.A299V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	299	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	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)			AGACACATATGCTGTCAGGCA	0.537													A	170204021	G	A	170204021	3	1	283	1	0	0	0	0	1	0	0	0	14696	1319	46	2	1435	2	SLC7A14	3	170204021	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	204324	170204021	27818409	304	145586											
NLGN1	22871	broad.mit.edu	37	chr3	173322839	173322839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catatgtgcaagaccagagcGaagactgcctatatttaaat	8	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:173322839G>A	uc003fio.1	+	3	874	c.451G>A	c.(451-453)GAA>AAA	p.E151K	NLGN1_uc010hww.1_Missense_Mutation_p.E151K|NLGN1_uc003fip.1_Missense_Mutation_p.E151K	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	151	Extracellular (Potential).				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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGACCAGAGCGAAGACTGCCT	0.368													A	173322839	G	A	173322839	3	1	283	1	0	0	0	0	1	0	0	0	10461	1059	37	1	453	1	NLGN1	3	173322839	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3118818	173322839	24699591	305	145587											
NLGN1	22871	broad.mit.edu	37	chr3	173996895	173996895	+	Frame_Shift_Del	DEL	C	C	-													ggtgatgtaataccagacgaCccccagatattgatggagca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:173996895delC	uc003fio.1	+	6	1527	c.1104delC	c.(1102-1104)GACfs	p.D368fs	NLGN1_uc010hww.1_Frame_Shift_Del_p.D408fs|NLGN1_uc003fip.1_Frame_Shift_Del_p.D368fs	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	385	Extracellular (Potential).				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			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACCAGACGACCCCCAGATAT	0.393													-	173996895	C	-	173996895	7	5	283	1	0	1	0	1	0	0	0	0	10461	506	18	0	1118	0	NLGN1	3	173996895	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	674056	173996895	24025535	306	145588											
MCF2L2	23101	broad.mit.edu	37	chr3	183059378	183059378	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctccacttgtctcttcgtcTgtcgataacaacaatgaatc	6	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:183059378T>C	uc003fli.1	-	4	406	c.316A>G	c.(316-318)AGA>GGA	p.R106G	MCF2L2_uc003flj.1_Missense_Mutation_p.R106G|MCF2L2_uc003flp.1_Missense_Mutation_p.R141G	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	106	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	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)			TCTCTTCGTCTGTCGATAACA	0.418													C	183059378	T	C	183059378	3	2	283	1	0	0	0	0	1	0	0	0	9380	1588	55	3	3136	3	MCF2L2	3	183059378	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	9062483	183059378	14963052	307	145589											
ABCC5	10057	broad.mit.edu	37	chr3	183705643	183705643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaagatccacacaaccCttcgcagggaagcagcgtct	11	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:183705643C>A	uc003fmg.2	-	5	671	c.506G>T	c.(505-507)AGG>ATG	p.R169M	ABCC5_uc011bqt.1_Translation_Start_Site|ABCC5_uc010hxl.2_Missense_Mutation_p.R169M|ABCC5_uc003fmh.2_Missense_Mutation_p.R169M|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.R169M|ABCC5_uc010hxo.2_Missense_Mutation_p.R169M	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	169						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACACAACCCTTCGCAGGGA	0.542													A	183705643	C	A	183705643	3	1	283	1	0	0	0	0	1	0	0	0	56	681	24	5	3951	5	ABCC5	3	183705643	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	646265	183705643	14316787	308	145590											
CHRD	8646	broad.mit.edu	37	chr3	184104636	184104636	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcctctctgcagagaCgaacggtgatctgtgacccg	11	13	3	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:184104636C>T	uc003fov.2	+	17	2446	c.2200C>T	c.(2200-2202)CGA>TGA	p.R734*	CHRD_uc003fow.2_Nonsense_Mutation_p.R364*|CHRD_uc003fox.2_Nonsense_Mutation_p.R734*|CHRD_uc003foy.2_Nonsense_Mutation_p.R364*|CHRD_uc010hyc.2_Nonsense_Mutation_p.R324*|CHRD_uc011brr.1_Nonsense_Mutation_p.R276*	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	734	VWFC 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			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCAGAGACGAACGGTGAT	0.657													T	184104636	C	T	184104636	4	4	283	1	0	0	0	0	0	1	0	0	3372	528	19	1	2266	1	CHRD	3	184104636	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	398993	184104636	13917794	309	145591											
TRA2B	6434	broad.mit.edu	37	chr3	185639834	185639834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaattcctggtgttggCgtatgtggtctttttgttat	11	4	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:185639834C>T	uc003fpv.2	-	5	879	c.603G>A	c.(601-603)ACG>ACA	p.T201T	TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Silent_p.T101T|TRA2B_uc003fpw.2_Silent_p.T201T	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	201	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CTGGTGTTGGCGTATGTGGTC	0.353													T	185639834	C	T	185639834	2	4	283	1	0	0	0	0	0	0	0	1	16431	755	27	1		1	TRA2B	3	185639834	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1535198	185639834	12382596	310	145592											
BCL6	604	broad.mit.edu	37	chr3	187444607	187444607	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagggtttgtcactgtgGgtctgcagcgtgtgcctctt	14	8	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:187444607G>T	uc003frp.3	-	7	2077	c.1620C>A	c.(1618-1620)ACC>ACA	p.T540T	BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Silent_p.T438T|BCL6_uc003frq.1_Silent_p.T540T	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	540	C2H2-type 1.				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			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTCACTGTGGGTCTGCAGCG	0.607			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								T	187444607	G	T	187444607	2	4	283	1	0	0	0	0	0	0	0	1	1376	1219	43	5		5	BCL6	3	187444607	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1804773	187444607	10577823	311	145593											
TPRG1	285386	broad.mit.edu	37	chr3	189038422	189038422	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttcttcagttgtctgGgttcatgtctaagcttgttc	8	8	6	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:189038422G>C	uc003frv.1	+	11	1868	c.641G>C	c.(640-642)GGG>GCG	p.G214A	TPRG1_uc003frw.1_Missense_Mutation_p.G214A	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	214											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CAGTTGTCTGGGTTCATGTCT	0.408													C	189038422	G	C	189038422	3	2	283	1	0	0	0	0	1	0	0	0	16415	1232	43	5	659	5	TPRG1	3	189038422	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1593815	189038422	8984008	312	145594											
MUC20	200958	broad.mit.edu	37	chr3	195452969	195452969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgccacggttgggaccCcactccccactaacagcgcc	9	18	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:195452969C>T	uc010hzo.2	+	3	1108	c.982C>T	c.(982-984)CCA>TCA	p.P328S	MUC20_uc010hzp.2_Missense_Mutation_p.P293S|MUC20_uc011bte.1_RNA	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	499	Involved in oligomerization.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	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)		GGTTGGGACCCCACTCCCCAC	0.592													T	195452969	C	T	195452969	3	4	283	1	0	0	0	0	1	0	0	0	9976	623	22	4	992	4	MUC20	3	195452969	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6414547	195452969	2569461	313	145595											
C3orf43	255798	broad.mit.edu	37	chr3	196235165	196235165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagataagtacttcaatgaCgtagctgtataaaatattca	7	6	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr3:196235165C>T	uc003fws.2	-	3	395	c.238G>A	c.(238-240)GTC>ATC	p.V80I	C3orf43_uc003fwr.2_Missense_Mutation_p.V72I	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	80	Helical; (Potential).					integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)		ACTTCAATGACGTAGCTGTAT	0.378													T	196235165	C	T	196235165	3	4	283	1	0	0	0	0	1	0	0	0	2230	536	19	1	410	1	C3orf43	3	196235165	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	782196	196235165	1787265	314	145596											
PIGG	54872	broad.mit.edu	37	chr4	515054	515055	+	Frame_Shift_Ins	INS	-	-	T													gatggtggggactgtcgtggINSttttggaggtacagatgctc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:515054_515055insT	uc003gak.3	+	7	1460_1461	c.1324_1325insT	c.(1324-1326)GTTfs	p.V442fs	PIGG_uc003gaj.3_Intron|PIGG_uc011bux.1_Intron|PIGG_uc010ibf.2_Frame_Shift_Ins_p.V309fs|PIGG_uc003gal.3_Frame_Shift_Ins_p.V353fs|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_Intron|PIGG_uc003gam.2_Intron|PIGG_uc003gan.2_Frame_Shift_Ins_p.V353fs	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	442	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GACTGTCGTGGTTTTGGAGGTA	0.436													T	515055	-	T	515054	7	5	283	1	0	1	1	0	0	0	0	0	11888	1261	44	0	1350	0	PIGG	4	515054	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08		515054	190639222	315	145597	767	2									
PIGG	54872	broad.mit.edu	37	chr4	515055	515056	+	Frame_Shift_Ins	INS	-	-	T													atggtggggactgtcgtggtINStttggaggtacagatgctca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:515054_515055G>GT	uc003gak.4	+	6	1460_1461	c.1324_1325G>GT	c.(1324-1326)gttfs	p.V442fs	PIGG_uc003gaj.4_Intron|PIGG_uc011bux.2_Intron|PIGG_uc010ibf.3_Frame_Shift_Ins_p.V309fs|PIGG_uc003gal.4_Frame_Shift_Ins_p.V353fs|PIGG_uc011buw.2_Intron|PIGG_uc003gam.3_Intron|PIGG_uc003gan.3_Frame_Shift_Ins_p.V353fs	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	442					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						GACTGTCGTGGTTTTGGAGGTA	0.441													T	515056	-	T	515055	7	5	283	1	0	1	1	0	0	0	0	0	11888	1725	60	0	1351	0	PIGG	4	515055	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	515055	190639221	316	145598	767	2									
PCGF3	10336	broad.mit.edu	37	chr4	755175	755175	+	Frame_Shift_Del	DEL	A	A	-													atctgaagaagttcatcgccAaaaaactcaacctttcatcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:755175delA	uc011bva.1	+	10	1046	c.571delA	c.(571-573)AAAfs	p.K191fs	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Frame_Shift_Del_p.K191fs|PCGF3_uc010ibh.2_Frame_Shift_Del_p.K191fs|PCGF3_uc003gbg.1_Frame_Shift_Del_p.K157fs|PCGF3_uc003gbh.2_Frame_Shift_Del_p.K157fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						GTTCATCGCCAAAAAACTCAA	0.473													-	755175	A	-	755175	7	5	283	1	0	1	0	1	0	0	0	0	11576	131	5	0	593	0	PCGF3	4	755175	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	240120	755175	190399101	317	145599											
DGKQ	1609	broad.mit.edu	37	chr4	960274	960274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggatgtcctgtagccGgtccagcaggggctgttcgt	15	12	0	0	rs147014854		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:960274G>A	uc003gbw.2	-	12	1482	c.1408C>T	c.(1408-1410)CGG>TGG	p.R470W	DGKQ_uc010ibn.2_Missense_Mutation_p.R470W	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	470	Ras-associating.				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			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTGTAGCCGGTCCAGCAGG	0.692													A	960274	G	A	960274	3	1	283	1	0	0	0	0	1	0	0	0	4473	1115	39	1	1468	1	DGKQ	4	960274	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	205099	960274	190194002	318	145600											
WHSC1	7468	broad.mit.edu	37	chr4	1920186	1920186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagaccctggagagtcacCccgacatagggaagagtact	12	11	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:1920186C>T	uc003gdz.3	+	5	1422	c.1246C>T	c.(1246-1248)CCC>TCC	p.P416S	WHSC1_uc003geb.3_Missense_Mutation_p.P416S|WHSC1_uc003gec.3_Missense_Mutation_p.P416S|WHSC1_uc003ged.3_Missense_Mutation_p.P416S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.P416S|WHSC1_uc003gdy.1_Missense_Mutation_p.P416S|WHSC1_uc010icd.1_Missense_Mutation_p.P416S|WHSC1_uc003gea.1_Missense_Mutation_p.P416S|WHSC1_uc010ice.1_Missense_Mutation_p.P416S|WHSC1_uc003geh.1_Missense_Mutation_p.P416S	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	416					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			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGAGAGTCACCCCGACATAGG	0.557			T	IGH@	MM								T	1920186	C	T	1920186	3	4	283	1	0	0	0	0	1	0	0	0	17359	623	22	4	1260	4	WHSC1	4	1920186	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	959912	1920186	189234090	319	145601											
FAM193A	8603	broad.mit.edu	37	chr4	2659551	2659551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaatgaaaaccaagcagCgcatgttaacagaagactgg	10	8	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:2659551C>T	uc010icl.2	+	6	811	c.460C>T	c.(460-462)CGC>TGC	p.R154C	FAM193A_uc010ick.2_Missense_Mutation_p.R354C|FAM193A_uc003gfd.2_Missense_Mutation_p.R154C|FAM193A_uc011bvm.1_Missense_Mutation_p.R178C|FAM193A_uc011bvn.1_Missense_Mutation_p.R154C|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.R8C	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	154										ovary(3)	3						AACCAAGCAGCGCATGTTAAC	0.338													T	2659551	C	T	2659551	3	4	283	1	0	0	0	0	1	0	0	0	5524	768	27	1	474	1	FAM193A	4	2659551	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	739365	2659551	188494725	320	145602											
ADD1	118	broad.mit.edu	37	chr4	2930187	2930188	+	In_Frame_Ins	INS	-	-	AAG													caggcaagtccccgtccaaaINSaagaagaagaagttccgtac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:2930187_2930188insAAG	uc003gfr.2	+	15	2339_2340	c.2151_2152insAAG	c.(2149-2154)insAAG	p.721_722insK	ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_In_Frame_Ins_p.752_753insK|ADD1_uc003gfs.2_3'UTR	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	721_722	Interaction with calmodulin (Potential).				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			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCCGTCCAAAAAGAAGAAGAA	0.619													AAG	2930188	-	AAG	2930187	7	5	283	1	0	1	1	0	0	0	0	0	304	11	1	0	2336	0	ADD1	4	2930187	In_Frame_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	270636	2930187	188224089	321	145603	768	2									
ADD1	118	broad.mit.edu	37	chr4	2930188	2930189	+	In_Frame_Ins	INS	-	-	AAG													aggcaagtccccgtccaaaaINSagaagaagaagttccgtacc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:2930187_2930188A>AAAG	uc003gfq.3	+	14	2432_2433	c.2244_2245A>AAAG	c.(2242-2247)aaaaag>aaAAAGag	p.748_749KK>KK	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_In_Frame_Ins_p.717_718KK>KK|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	717					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|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)		CCCCGTCCAAAAAGAAGAAGAA	0.619													AAG	2930189	-	AAG	2930188	7	5	283	1	0	1	1	0	0	0	0	0	304	15	1	0	2337	0	ADD1	4	2930188	In_Frame_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	2930188	188224088	322	145604	768	2									
HTT	3064	broad.mit.edu	37	chr4	3134560	3134560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatacattttctttggcGgattgcattcctttgctgcg	10	8	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:3134560G>A	uc011bvq.1	+	19	2566	c.2421G>A	c.(2419-2421)GCG>GCA	p.A807A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	805	HEAT 4.				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			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTCTTTGGCGGATTGCATTC	0.383													A	3134560	G	A	3134560	2	1	283	1	0	0	0	0	0	0	0	1	7457	1103	39	1		1	HTT	4	3134560	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	204372	3134560	188019716	323	145605											
LRPAP1	4043	broad.mit.edu	37	chr4	3526763	3526763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagctcggccagcctcaCgggaggaagatgcagctgcg	17	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:3526763C>T	uc003ghi.2	-	2	305	c.220G>A	c.(220-222)GTG>ATG	p.V74M		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	74					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCCAGCCTCACGGGAGGAAGA	0.597													T	3526763	C	T	3526763	3	4	283	1	0	0	0	0	1	0	0	0	8964	536	19	1	881	1	LRPAP1	4	3526763	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	392203	3526763	187627513	324	145606											
LYAR	55646	broad.mit.edu	37	chr4	4285458	4285458	+	Frame_Shift_Del	DEL	A	A	-													tcaccacatgcattgcatgtAaaaaataccatttttaggta							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4285458delA	uc011bvy.1	-	3	155	c.12delT	c.(10-12)TTTfs	p.F4fs	LYAR_uc003ght.2_Frame_Shift_Del_p.F4fs	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	4						nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CATTGCATGTAAAAAATACCA	0.333													-	4285458	A	-	4285458	7	5	283	1	0	1	0	1	0	0	0	0	9103	359	13	0	1159	0	LYAR	4	4285458	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	758695	4285458	186868818	325	145607											
STX18	53407	broad.mit.edu	37	chr4	4436579	4436580	+	Frame_Shift_Ins	INS	-	-	T													aggttgtgtttcagccaaaaINSttttttctgttaaaaaaaaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4436579_4436580insT	uc003gic.2	-	7	703_704	c.619_620insA	c.(619-621)ATTfs	p.I207fs		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	207	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTCAGCCAAAATTTTTTCTGTT	0.361													T	4436580	-	T	4436579	7	5	283	1	0	1	1	0	0	0	0	0	15340	101	4	0	407	0	STX18	4	4436579	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	151121	4436579	186717697	326	145608	769	2									
STX18	53407	broad.mit.edu	37	chr4	4436580	4436581	+	Frame_Shift_Ins	INS	-	-	T													ggttgtgtttcagccaaaatINStttttctgttaaaaaaaaaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4436579_4436580A>AT	uc003gic.3	-	6	703_704	c.619_620T>AT	c.(619-621)attfs	p.I207fs		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	Homo sapiens syntaxin 18 (STX18), mRNA.	207					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi membrane|endoplasmic reticulum 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)		TTCAGCCAAAATTTTTTCTGTT	0.361													T	4436581	-	T	4436580	7	5	283	1	0	1	1	0	0	0	0	0	15340	1493	52	0	408	0	STX18	4	4436580	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	4436580	186717696	327	145609	769	2									
MSX1	4487	broad.mit.edu	37	chr4	4864628	4864628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatggttccagaaccgcCgcgccaaggcaaagagacta	11	11	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:4864628C>T	uc003gif.2	+	2	905	c.670C>T	c.(670-672)CGC>TGC	p.R224C		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	218	Homeobox.				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				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCAGAACCGCCGCGCCAAGGC	0.617													T	4864628	C	T	4864628	3	4	283	1	0	0	0	0	1	0	0	0	9895	652	23	1	676	1	MSX1	4	4864628	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	428048	4864628	186289648	328	145610											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107538	6107538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcgcgccgcctcctgctCgtgctgccggatgagcccct	14	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:6107538C>T	uc003giu.3	-	3	562	c.286G>A	c.(286-288)GAG>AAG	p.E96K	JAKMIP1_uc010idb.1_Missense_Mutation_p.E96K|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E96K|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.E96K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E96K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	96	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCCTCCTGCTCGTGCTGCCGG	0.682													T	6107538	C	T	6107538	3	4	283	1	0	0	0	0	1	0	0	0	7940	893	31	1	2360	1	JAKMIP1	4	6107538	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1242910	6107538	185046738	329	145611											
PPP2R2C	5522	broad.mit.edu	37	chr4	6374306	6374306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgcgcaggtcatccgccGacatgtaggtctcgcagtca	12	12	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:6374306G>A	uc003gjc.2	-	5	939	c.569C>T	c.(568-570)TCG>TTG	p.S190L	PPP2R2C_uc003gjb.2_Missense_Mutation_p.S173L|PPP2R2C_uc011bwd.1_Missense_Mutation_p.S183L|PPP2R2C_uc011bwe.1_Missense_Mutation_p.S183L|PPP2R2C_uc003gja.2_Missense_Mutation_p.S190L|PPP2R2C_uc003gjd.1_Missense_Mutation_p.S278L	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	190	WD 3.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GTCATCCGCCGACATGTAGGT	0.587													A	6374306	G	A	6374306	3	1	283	1	0	0	0	0	1	0	0	0	12386	1059	37	1	794	1	PPP2R2C	4	6374306	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	266768	6374306	184779970	330	145612											
WDR1	9948	broad.mit.edu	37	chr4	10083028	10083028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccggggccgacggctaCgcactttggctgaacgtcca	12	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:10083028C>T	uc003gmf.2	-	11	1520	c.1237G>A	c.(1237-1239)GTA>ATA	p.V413I	WDR1_uc003gmg.2_Missense_Mutation_p.V273I|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	413					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGACGGCTACGCACTTTGGC	0.572													T	10083028	C	T	10083028	3	4	283	1	0	0	0	0	1	0	0	0	17269	536	19	1	603	1	WDR1	4	10083028	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3708722	10083028	181071248	331	145613											
NKX3-2	579	broad.mit.edu	37	chr4	13544093	13544093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccccgctgcacagcgCggacacgtgtgcacctctgg	14	17	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:13544093C>T	uc003gmx.2	-	2	602	c.526G>A	c.(526-528)GCG>ACG	p.A176T		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	176					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						ctgcACAGCGCGGACACGTGT	0.428													T	13544093	C	T	13544093	3	4	283	1	0	0	0	0	1	0	0	0	10456	768	27	1	479	1	NKX3-2	4	13544093	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3461065	13544093	177610183	332	145614											
BST1	683	broad.mit.edu	37	chr4	15717330	15717330	+	Frame_Shift_Del	DEL	T	T	-													cttcaagaaatgtttctcagTttttttgcagattatgaaat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:15717330delT	uc003goh.3	+	6	807	c.612delT	c.(610-612)GGTfs	p.G204fs	BST1_uc003goi.2_Frame_Shift_Del_p.G15fs	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	204					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						TGTTTCTCAGTTTTTTTGCAG	0.318													-	15717330	T	-	15717330	7	5	283	1	0	1	0	1	0	0	0	0	1533	1739	60	0	634	0	BST1	4	15717330	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	2173237	15717330	175436946	333	145615											
QDPR	5860	broad.mit.edu	37	chr4	17503370	17503370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagggcagcctttgcGccagccaaggtcaggaggcc	13	15	1	0	rs3733569		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:17503370G>A	uc003gpd.2	-	4	588	c.408C>T	c.(406-408)GGC>GGT	p.G136G	QDPR_uc003gpe.2_Silent_p.G105G|QDPR_uc003gpf.2_RNA	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	136					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)	CAGCCTTTGCGCCAGCCAAGG	0.552													A	17503370	G	A	17503370	2	1	283	1	0	0	0	0	0	0	0	1	12872	1074	38	1		1	QDPR	4	17503370	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1786040	17503370	173650906	334	145616											
DHX15	1665	broad.mit.edu	37	chr4	24550501	24550502	+	Frame_Shift_Ins	INS	-	-	T													cttccaattgctccattctgINSttttttgggaggtggaggct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:24550501_24550502insT	uc003gqx.2	-	6	1392_1393	c.1224_1225insA	c.(1222-1227)AAACAGfs	p.K408fs		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	408_409	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				GCTCCATTCTGTTTTTTGGGAG	0.351													T	24550502	-	T	24550501	7	5	283	1	0	1	1	0	0	0	0	0	4501	1386	48	0	1198	0	DHX15	4	24550501	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	7047131	24550501	166603775	335	145617	770	2									
DHX15	1665	broad.mit.edu	37	chr4	24550502	24550503	+	Frame_Shift_Ins	INS	-	-	T													ttccaattgctccattctgtINStttttgggaggtggaggctc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:24550501_24550502G>GT	uc003gqx.3	-	5	1392_1393	c.1224_1225C>AC	c.(1222-1227)aaacagfs	p.K408fs		NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	408	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			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)				GCTCCATTCTGTTTTTTGGGAG	0.351													T	24550503	-	T	24550502	7	5	283	1	0	1	1	0	0	0	0	0	4501	1722	60	0	1199	0	DHX15	4	24550502	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	24550502	166603774	336	145618	770	2									
ZCCHC4	29063	broad.mit.edu	37	chr4	25351264	25351264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagaaggtcaaagccaaGgtgtataatttattactgca	10	5	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:25351264G>T	uc003grl.3	+	7	946	c.910G>T	c.(910-912)GAT>TAT	p.D304Y	ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Missense_Mutation_p.D70Y	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	304							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				TCAAAGCCAAGGTGTATAATT	0.358													T	25351264	G	T	25351264	3	4	283	1	0	0	0	0	1	0	0	0	17587	1014	35	5	936	5	ZCCHC4	4	25351264	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	800762	25351264	165803012	337	145619											
PCDH7	5099	broad.mit.edu	37	chr4	30726135	30726135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaccagccaacacatttGtgggagcaggagacaacatt	9	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:30726135G>A	uc003gsk.1	+	1	4099	c.3091G>A	c.(3091-3093)GTG>ATG	p.V1031M	PCDH7_uc011bxw.1_Missense_Mutation_p.V984M|PCDH7_uc011bxx.1_Missense_Mutation_p.V1031M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	1031	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CAACACATTTGTGGGAGCAGG	0.453													A	30726135	G	A	30726135	3	1	283	1	0	0	0	0	1	0	0	0	11516	1377	48	4	3093	4	PCDH7	4	30726135	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5374871	30726135	160428141	338	145620											
ARAP2	116984	broad.mit.edu	37	chr4	36161102	36161102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgtttctagaacatccGgtttcactacagcagcacat	6	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:36161102G>A	uc003gsq.1	-	14	2806	c.2468C>T	c.(2467-2469)CCG>CTG	p.P823L		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	823					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TAGAACATCCGGTTTCACTAC	0.423													A	36161102	G	A	36161102	3	1	283	1	0	0	0	0	1	0	0	0	839	1116	39	1	2726	1	ARAP2	4	36161102	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5434967	36161102	154993174	339	145621											
KLF3	51274	broad.mit.edu	37	chr4	38698867	38698867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgccctccataggaaaCgccacatgctagtctgattg	8	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:38698867C>T	uc003gth.3	+	6	1353	c.1021C>T	c.(1021-1023)CGC>TGC	p.R341C		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	341	C2H2-type 3.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						CCATAGGAAACGCCACATGCT	0.512													T	38698867	C	T	38698867	3	4	283	1	0	0	0	0	1	0	0	0	8347	536	19	1	1039	1	KLF3	4	38698867	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2537765	38698867	152455409	340	145622											
WDR19	57728	broad.mit.edu	37	chr4	39230289	39230289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaactgagaccaatgctggCacagaatttaatgctaaaga	9	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:39230289C>T	uc003gtv.2	+	17	2115	c.1961C>T	c.(1960-1962)GCA>GTA	p.A654V	WDR19_uc011byi.1_Missense_Mutation_p.A494V|WDR19_uc003gtw.1_Missense_Mutation_p.A251V	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	654					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCAATGCTGGCACAGAATTTA	0.388													T	39230289	C	T	39230289	3	4	283	1	0	0	0	0	1	0	0	0	17276	710	25	2	2027	2	WDR19	4	39230289	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	531422	39230289	151923987	341	145623											
RFC1	5981	broad.mit.edu	37	chr4	39293450	39293450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagataatccatgtttaCagtccttttgctggagtaag	9	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:39293450C>T	uc003gty.1	-	23	3114	c.2980G>A	c.(2980-2982)GTA>ATA	p.V994I	RFC1_uc003gtx.1_Missense_Mutation_p.V993I	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	994					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			ovary(2)|pancreas(1)|skin(1)	4						TCCATGTTTACAGTCCTTTTG	0.428													T	39293450	C	T	39293450	3	4	283	1	0	0	0	0	1	0	0	0	13244	478	17	4	478	4	RFC1	4	39293450	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	63161	39293450	151860826	342	145624											
KCTD8	386617	broad.mit.edu	37	chr4	44450516	44450516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggatggtgctgccgcCgctgcccgtgtccttcagag	16	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:44450516C>T	uc003gwu.2	-	1	309	c.25G>A	c.(25-27)GGC>AGC	p.G9S		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	9						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GTGCTGCCGCCGCTGCCCGTG	0.567										HNSCC(17;0.042)			T	44450516	C	T	44450516	3	4	283	1	0	0	0	0	1	0	0	0	8115	652	23	1	1404	1	KCTD8	4	44450516	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5157066	44450516	146703760	343	145625											
GNPDA2	132789	broad.mit.edu	37	chr4	44719161	44719161	+	Frame_Shift_Del	DEL	T	T	-													agatctattcctccagcttcTtttattttgttttcaaaagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:44719160_44719160CT>C	uc003gwy.3	-	3	536	c.379_379AG>G	c.(379-381)gaafs	p.E127fs	GNPDA2_uc010iga.3_Frame_Shift_Del_p.E93fs|GNPDA2_uc011bzb.2_Frame_Shift_Del_p.E57fs|GNPDA2_uc003gwz.1_Frame_Shift_Del_p.E127fs	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	127					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.K126*(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						CCTCCAGCTTCTTTTATTTTG	0.299													-	44719161	T	-	44719161	7	5	283	1	0	1	0	1	0	0	0	0	6543	1606	56	0	468	0	GNPDA2	4	44719161	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	268645	44719161	146435115	344	145626											
ATP10D	57205	broad.mit.edu	37	chr4	47559698	47559699	+	Frame_Shift_Ins	INS	-	-	G													agatcagacacccttcactgINSggggggttgcccattaagtc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:47559697_47559698T>TG	uc003gxk.1	+	11	2005_2006	c.1841_1842T>TG	c.(1840-1842)ctgfs	p.L614fs	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	614					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						CACCCTTCACTGGGGGGGTTGC	0.401													G	47559699	-	G	47559698	7	5	283	1	0	1	1	0	0	0	0	0	1118	1335	47	0	1884	0	ATP10D	4	47559698	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	2840537	47559698	143594578	345	145627											
PDGFRA	5156	broad.mit.edu	37	chr4	55146512	55146512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatcttttgaaaacaatgGtgactacatggacatgaagc	8	6	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:55146512G>T	uc003han.3	+	16	2517	c.2186G>T	c.(2185-2187)GGT>GTT	p.G729V	PDGFRA_uc003haa.2_Missense_Mutation_p.G489V|PDGFRA_uc010igq.1_Missense_Mutation_p.G623V|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.G108V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	729	Protein kinase.|Cytoplasmic (Potential).				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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	GAAAACAATGGTGACTACATG	0.393			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			T	55146512	G	T	55146512	3	4	283	1	0	0	0	0	1	0	0	0	11661	1261	44	5	2244	5	PDGFRA	4	55146512	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7586814	55146512	136007764	346	145628											
LPHN3	23284	broad.mit.edu	37	chr4	62598963	62598963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgaacccttacaccctaCggatcgaaggaacatgggat	9	10	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:62598963C>T	uc010ihh.2	+	5	1059	c.886C>T	c.(886-888)CGG>TGG	p.R296W	LPHN3_uc003hcq.3_Missense_Mutation_p.R296W|LPHN3_uc010ihg.1_Missense_Mutation_p.R364W|LPHN3_uc003hcs.1_Missense_Mutation_p.R125W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	296	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TTACACCCTACGGATCGAAGG	0.393													T	62598963	C	T	62598963	3	4	283	1	0	0	0	0	1	0	0	0	8917	527	19	1	904	1	LPHN3	4	62598963	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	7452451	62598963	128555313	347	145629											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68964641	68964641	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtaacaataccaattgcaaTtcctatgattgctacaattg	5	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:68964641T>A	uc003hdt.1	-	2	176	c.127A>T	c.(127-129)ATT>TTT	p.I43F		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	43	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CCAATTGCAATTCCTATGATT	0.383													A	68964641	T	A	68964641	3	1	283	1	0	0	0	0	1	0	0	0	16240	1493	52	5	1225	5	TMPRSS11F	4	68964641	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	6365678	68964641	122189635	348	145630											
SLC4A4	8671	broad.mit.edu	37	chr4	72319255	72319256	+	Frame_Shift_Ins	INS	-	-	T													cataaagaggaaagcgccatINStttttgccagtgatttttat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:72319254_72319255A>AT	uc010iic.3	+	11	1482_1483	c.1365_1366A>AT	c.(1363-1368)ccatttfs	p.P455fs	SLC4A4_uc003hfy.3_Frame_Shift_Ins_p.P455fs|SLC4A4_uc010iib.3_Frame_Shift_Ins_p.P455fs|SLC4A4_uc003hfz.3_Frame_Shift_Ins_p.P455fs|SLC4A4_uc003hgc.4_Frame_Shift_Ins_p.P411fs|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Frame_Shift_Ins_p.P333fs|SLC4A4_uc003hgb.3_Frame_Shift_Ins_p.P411fs	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	455						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.G456G(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)			GGAAAGCGCCATTTTTTGCCAG	0.351													T	72319256	-	T	72319255	7	5	283	1	0	1	1	0	0	0	0	0	14656	1493	52	0	1529	0	SLC4A4	4	72319255	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	3354614	72319255	118835021	349	145631											
COX18	285521	broad.mit.edu	37	chr4	73930979	73930979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattaccttctgaatgtgCtgcccccgtgcttaaattcc	6	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:73930979C>T	uc003hgm.1	-	3	692	c.586G>A	c.(586-588)GCA>ACA	p.A196T	COX18_uc003hgn.1_Missense_Mutation_p.A45T|COX18_uc011cbc.1_Missense_Mutation_p.A196T|COX18_uc010iih.1_Missense_Mutation_p.A196T	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	mitochondrial COX18 precursor	196					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity				0	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTGAATGTGCTGCCCCCGTG	0.368													T	73930979	C	T	73930979	3	4	283	1	0	0	0	0	1	0	0	0	3767	797	28	2	431	2	COX18	4	73930979	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1611724	73930979	117223297	350	145632											
ANKRD17	26057	broad.mit.edu	37	chr4	73956848	73956848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaggagtaggctgggggCatcccattggtgtctgaggc	16	7	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:73956848C>T	uc003hgp.2	-	29	6614	c.6497G>A	c.(6496-6498)TGC>TAC	p.C2166Y	ANKRD17_uc003hgo.2_Missense_Mutation_p.C2053Y|ANKRD17_uc003hgq.2_Missense_Mutation_p.C1915Y|ANKRD17_uc003hgr.2_Missense_Mutation_p.C2165Y	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2166					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			AGGCTGGGGGCATCCCATTGG	0.507													T	73956848	C	T	73956848	3	4	283	1	0	0	0	0	1	0	0	0	646	710	25	2	1338	2	ANKRD17	4	73956848	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	25869	73956848	117197428	351	145633											
ANKRD17	26057	broad.mit.edu	37	chr4	74021806	74021806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcctctgtgtgttcaTttacacttcgcccttcaatg	5	15	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:74021806T>C	uc003hgp.2	-	4	899	c.782A>G	c.(781-783)AAT>AGT	p.N261S	ANKRD17_uc003hgo.2_Missense_Mutation_p.N148S|ANKRD17_uc003hgq.2_Missense_Mutation_p.N261S|ANKRD17_uc003hgr.2_Missense_Mutation_p.N261S|ANKRD17_uc011cbd.1_5'Flank	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	261	ANK 1.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)			TGTGTGTTCATTTACACTTCG	0.418													C	74021806	T	C	74021806	3	2	283	1	0	0	0	0	1	0	0	0	646	1493	52	3	7153	3	ANKRD17	4	74021806	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	64958	74021806	117132470	352	145634											
FGF5	2250	broad.mit.edu	37	chr4	81196142	81196142	+	Frame_Shift_Del	DEL	A	A	-													aacaaatttttagcgatgtcAaaaaaaggaaaactccatgc					rs35667286		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:81196141_81196141CA>C	uc003hmd.3	+	1	671	c.434_434CA>C	c.(433-435)tcafs	p.S145fs	FGF5_uc003hme.3_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	145					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						TTAGCGATGTCAAAAAAAGGA	0.328													-	81196142	A	-	81196142	7	5	283	1	0	1	0	1	0	0	0	0	5855	117	5	0	441	0	FGF5	4	81196142	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	7174336	81196142	109958134	353	145635											
SEC31A	22872	broad.mit.edu	37	chr4	83799934	83799934	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggccagtatgcttgtcattCtgggcaatcacaacttcctt	9	11	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:83799934C>T	uc003hnf.2	-	4	515	c.351G>A	c.(349-351)CAG>CAA	p.Q117Q	SEC31A_uc011ccl.1_Silent_p.Q117Q|SEC31A_uc003hnl.2_Silent_p.Q117Q|SEC31A_uc003hng.2_Silent_p.Q117Q|SEC31A_uc003hnh.2_Silent_p.Q117Q|SEC31A_uc003hni.2_Silent_p.Q117Q|SEC31A_uc003hnj.2_Silent_p.Q117Q|SEC31A_uc011ccm.1_Silent_p.Q112Q|SEC31A_uc011ccn.1_Silent_p.Q117Q|SEC31A_uc003hnk.2_Silent_p.Q117Q|SEC31A_uc003hnm.2_Silent_p.Q117Q|SEC31A_uc003hnn.1_Silent_p.Q117Q|SEC31A_uc003hno.2_Silent_p.Q117Q	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	117					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/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GCTTGTCATTCTGGGCAATCA	0.388													T	83799934	C	T	83799934	2	4	283	1	0	0	0	0	0	0	0	1	13998	912	32	4		4	SEC31A	4	83799934	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2603792	83799934	107354342	354	145636											
PTPN13	5783	broad.mit.edu	37	chr4	87662887	87662887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtctgttctaaaggtgTccttgtgtttgaagttcaca	11	6	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:87662887T>C	uc003hpz.2	+	16	2885	c.2405T>C	c.(2404-2406)GTC>GCC	p.V802A	PTPN13_uc003hpy.2_Missense_Mutation_p.V802A|PTPN13_uc003hqa.2_Missense_Mutation_p.V802A|PTPN13_uc003hqb.2_Missense_Mutation_p.V802A	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	802	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTAAAGGTGTCCTTGTGTTT	0.428													C	87662887	T	C	87662887	3	2	283	1	0	0	0	0	1	0	0	0	12782	1667	58	3	2463	3	PTPN13	4	87662887	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	3862953	87662887	103491389	355	145637											
PTPN13	5783	broad.mit.edu	37	chr4	87735693	87735693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaaacagcagcctcagCttctgaagtgacatgaaaag	9	9	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:87735693C>A	uc003hpz.2	+	48	7927	c.7447C>A	c.(7447-7449)CTT>ATT	p.L2483I	PTPN13_uc003hpy.2_Missense_Mutation_p.L2488I|PTPN13_uc003hqa.2_Missense_Mutation_p.L2464I|PTPN13_uc003hqb.2_Missense_Mutation_p.L2292I	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2483						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGCCTCAGCTTCTGAAGTG	0.418													A	87735693	C	A	87735693	3	1	283	1	0	0	0	0	1	0	0	0	12782	797	28	5	7648	5	PTPN13	4	87735693	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	72806	87735693	103418583	356	145638											
PKD2	5311	broad.mit.edu	37	chr4	88996024	88996024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatagtgtccaagattgaCgccgtgatcgtgaagctaga	12	8	0	5			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:88996024C>T	uc003hre.2	+	14	2649	c.2583C>T	c.(2581-2583)GAC>GAT	p.D861D	PKD2_uc011cdf.1_Silent_p.D279D|PKD2_uc011cdg.1_Silent_p.D187D|PKD2_uc011cdh.1_Silent_p.D84D	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	861	Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).					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			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CCAAGATTGACGCCGTGATCG	0.547													T	88996024	C	T	88996024	2	4	283	1	0	0	0	0	0	0	0	1	11966	535	19	1		1	PKD2	4	88996024	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1260331	88996024	102158252	357	145639											
HERC5	51191	broad.mit.edu	37	chr4	89415436	89415436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaacttttggaccaaAtgccatcattggaagacttg	8	7	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:89415436A>G	uc003hrt.2	+	18	2551	c.2398A>G	c.(2398-2400)ATG>GTG	p.M800V	HERC5_uc011cdm.1_Missense_Mutation_p.M438V	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	800	HECT.				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			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTGGACCAAATGCCATCATT	0.393													G	89415436	A	G	89415436	3	3	283	1	0	0	0	0	1	0	0	0	7061	101	4	3	2468	3	HERC5	4	89415436	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	419412	89415436	101738840	358	145640											
FAM13A	10144	broad.mit.edu	37	chr4	89658707	89658707	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttgctggagggggaaccCtgtgacaggtgttaacaagt	15	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:89658707C>A	uc003hse.1	-	21	2771	c.2563_splice	c.e21-1	p.G855_splice	FAM13A_uc011cdp.1_Translation_Start_Site|FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Splice_Site_p.G529_splice|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Splice_Site_p.G515_splice|FAM13A_uc011cdq.1_Splice_Site_p.G501_splice|FAM13A_uc003hsf.1_Splice_Site_p.G441_splice|FAM13A_uc003hsg.1_Intron	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						AGGGGGAACCCTGTGACAGGT	0.507													A	89658707	C	A	89658707	5	1	283	1	0	0	0	0	0	0	1	0	5452	695	24	5	525	5	FAM13A	4	89658707	Splice_Site	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	243271	89658707	101495569	359	145641											
GRID2	2895	broad.mit.edu	37	chr4	94316824	94316824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaattggagaataacAtgcgtggagtggttctacgt	12	5	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:94316824A>G	uc011cdt.1	+	9	1570	c.1312A>G	c.(1312-1314)ATG>GTG	p.M438V	GRID2_uc011cdu.1_Missense_Mutation_p.M343V	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	438	Extracellular (Potential).				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			ovary(3)|skin(2)|large_intestine(1)	6		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)	GGAGAATAACATGCGTGGAGT	0.403													G	94316824	A	G	94316824	3	3	283	1	0	0	0	0	1	0	0	0	6772	217	8	3	1346	3	GRID2	4	94316824	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	4658117	94316824	96837452	360	145642											
COL25A1	84570	broad.mit.edu	37	chr4	109767322	109767322	+	Frame_Shift_Del	DEL	T	T	-													ccaggaagtccaattcctccTttttcacctgtcatacctgg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:109767322delT	uc003hze.1	-	27	2019	c.1488delA	c.(1486-1488)AAAfs	p.K496fs	COL25A1_uc003hzg.2_Frame_Shift_Del_p.K496fs|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Frame_Shift_Del_p.K254fs	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	496	Extracellular (Potential).|Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAATTCCTCCTTTTTCACCTG	0.373													-	109767322	T	-	109767322	7	5	283	1	0	1	0	1	0	0	0	0	3684	1606	56	0	604	0	COL25A1	4	109767322	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	15450498	109767322	81386954	361	145643											
COL25A1	84570	broad.mit.edu	37	chr4	109774059	109774059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgcaataggagttaccGtgacagttaaggtggtaatc	12	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:109774059G>A	uc003hze.1	-	24	1874	c.1343C>T	c.(1342-1344)ACG>ATG	p.T448M	COL25A1_uc003hzg.2_Missense_Mutation_p.T448M|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	448	Extracellular (Potential).|Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGAGTTACCGTGACAGTTAA	0.363													A	109774059	G	A	109774059	3	1	283	1	0	0	0	0	1	0	0	0	3684	1159	40	1	761	1	COL25A1	4	109774059	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6737	109774059	81380217	362	145644											
UGT8	7368	broad.mit.edu	37	chr4	115597234	115597234	+	Frame_Shift_Del	DEL	T	T	-													cagatctccttttgtcagtaTtttttactggatattgcctt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:115597234delT	uc003ibs.2	+	6	1938	c.1416delT	c.(1414-1416)TATfs	p.Y472fs	UGT8_uc003ibt.2_Frame_Shift_Del_p.Y472fs|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	472	Helical; (Potential).				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			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTTGTCAGTATTTTTTACTGG	0.388													-	115597234	T	-	115597234	7	5	283	1	0	1	0	1	0	0	0	0	16962	1500	52	0	1434	0	UGT8	4	115597234	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	5823175	115597234	75557042	363	145645											
ANKRD50	57182	broad.mit.edu	37	chr4	125590698	125590699	+	Frame_Shift_Del	DEL	CT	CT	-													cactacttggtgaattatgaCtctgtcctaaggactgtgtt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:125590698_125590699delCT	uc003ifg.3	-	3	3999_4000	c.3733_3734delAG	c.(3733-3735)AGTfs	p.S1245fs	ANKRD50_uc011cgo.1_Frame_Shift_Del_p.S1066fs|ANKRD50_uc010inw.2_Frame_Shift_Del_p.S1245fs	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1245	Ser-rich.									central_nervous_system(1)	1						TGAATTATGACTCTGTCCTAAG	0.416													-	125590699	CT	-	125590698	7	5	283	1	0	1	0	1	0	0	0	0	677	565	20	0	559	0	ANKRD50	4	125590698	Frame_Shift_Del	DEL	CT	TCGA-HU-A4H8-01A-11D-A25D-08	9993464	125590698	65563578	364	145646											
FAT4	79633	broad.mit.edu	37	chr4	126371970	126371970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagagctaccatcttActgtgaaagccttcaatgtc	7	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:126371970A>G	uc003ifj.3	+	9	9799	c.9799A>G	c.(9799-9801)ACT>GCT	p.T3267A	FAT4_uc011cgp.1_Missense_Mutation_p.T1565A|FAT4_uc003ifi.1_Missense_Mutation_p.T745A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3267	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTACCATCTTACTGTGAAAGC	0.423													G	126371970	A	G	126371970	3	3	283	1	0	0	0	0	1	0	0	0	5692	391	14	3	9833	3	FAT4	4	126371970	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	781272	126371970	64782306	365	145647											
HSPA4L	22824	broad.mit.edu	37	chr4	128722950	128722950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttatacagttgcactggcGtatggaatttataaacagga	9	6	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:128722950G>A	uc003ifm.2	+	6	793	c.540G>A	c.(538-540)GCG>GCA	p.A180A	HSPA4L_uc010iny.1_Silent_p.A139A|HSPA4L_uc011cgr.1_Silent_p.A147A	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	180					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TTGCACTGGCGTATGGAATTT	0.338													A	128722950	G	A	128722950	2	1	283	1	0	0	0	0	0	0	0	1	7413	1132	40	1		1	HSPA4L	4	128722950	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2350980	128722950	62431326	366	145648											
UCP1	7350	broad.mit.edu	37	chr4	141488942	141488942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggcttactttctttccCtgcggtgaggaactcctgga	10	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:141488942C>T	uc011chj.1	-	2	392	c.316G>A	c.(316-318)GGG>AGG	p.G106R	UCP1_uc011chk.1_Missense_Mutation_p.G106R	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	106					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)					CTTTCTTTCCCTGCGGTGAGG	0.567													T	141488942	C	T	141488942	3	4	283	1	0	0	0	0	1	0	0	0	16927	681	24	4	625	4	UCP1	4	141488942	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	12765992	141488942	49665334	367	145649											
TBC1D9	23158	broad.mit.edu	37	chr4	141590148	141590148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccgcgttttctctgtgCggtacatgcagatcccttgc	10	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:141590148C>T	uc010ioj.2	-	9	1783	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	504						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTCTCTGTGCGGTACATGCA	0.542													T	141590148	C	T	141590148	3	4	283	1	0	0	0	0	1	0	0	0	15624	768	27	1	2341	1	TBC1D9	4	141590148	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	101206	141590148	49564128	368	145650											
HHIP	64399	broad.mit.edu	37	chr4	145568052	145568052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtggcttctaccctcgGctgtcctgctgcctgcggag	14	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:145568052G>A	uc003ijs.1	+	1	880	c.225G>A	c.(223-225)CGG>CGA	p.R75R	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Silent_p.R75R	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	75						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCTACCCTCGGCTGTCCTGCT	0.622													A	145568052	G	A	145568052	2	1	283	1	0	0	0	0	0	0	0	1	7092	1190	42	2		2	HHIP	4	145568052	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3977904	145568052	45586224	369	145651											
HHIP	64399	broad.mit.edu	37	chr4	145628239	145628239	+	Splice_Site	DEL	A	A	-													gttttcttcccacaatgtagAaaaaatccacaccaagttga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:145628238_145628238GA>G	uc003ijs.2	+	6	1664	c.984_splice	c.e6-1	p.R328_splice		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	328						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)		CCACAATGTAGAAAAAATCCA	0.388													-	145628239	A	-	145628239	8	5	283	1	0	1	0	1	0	0	1	0	7092	260	9	0	1006	0	HHIP	4	145628239	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	60187	145628239	45526037	370	145652											
NR3C2	4306	broad.mit.edu	37	chr4	149357500	149357500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgacgccaccattcacGgagctcccagagtcagacat	9	15	2	3	rs146027424		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:149357500G>A	uc003ilj.3	-	2	847	c.513C>T	c.(511-513)TCC>TCT	p.S171S	NR3C2_uc003ilk.3_Silent_p.S171S|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	171	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			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CACCATTCACGGAGCTCCCAG	0.478													A	149357500	G	A	149357500	2	1	283	1	0	0	0	0	0	0	0	1	10631	1103	39	1		1	NR3C2	4	149357500	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3729261	149357500	41796776	371	145653											
LRBA	987	broad.mit.edu	37	chr4	151520184	151520184	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacggctgtttttagtgtCgcttcaggatgtgtcgatcc	11	10	1	0	rs138018109	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:151520184C>T	uc010ipj.2	-	38	6495	c.6021G>A	c.(6019-6021)GCG>GCA	p.A2007A	LRBA_uc003ilt.3_Silent_p.A666A|LRBA_uc003ilu.3_Silent_p.A2007A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2007						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TTTTTAGTGTCGCTTCAGGAT	0.488													T	151520184	C	T	151520184	2	4	283	1	0	0	0	0	0	0	0	1	8931	871	31	1		1	LRBA	4	151520184	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2162684	151520184	39634092	372	145654											
DCHS2	54798	broad.mit.edu	37	chr4	155254305	155254305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcctggctgcgggctggCgatggagtaccggatgagtc	18	10	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:155254305C>T	uc003inw.2	-	9	1558	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	DCHS2_uc003inx.2_Missense_Mutation_p.A1019T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	520	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGCGGGCTGGCGATGGAGTAC	0.652													T	155254305	C	T	155254305	3	4	283	1	0	0	0	0	1	0	0	0	4288	768	27	1	7356	1	DCHS2	4	155254305	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3734121	155254305	35899971	373	145655											
TKTL2	84076	broad.mit.edu	37	chr4	164394544	164394544	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcaacaaacggcaatcGgggggtagggtgtctctcca	13	11	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:164394544G>A	uc003iqp.3	-	1	504	c.343C>T	c.(343-345)CGA>TGA	p.R115*		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	115						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AACGGCAATCGGGGGGTAGGG	0.522													A	164394544	G	A	164394544	4	1	283	1	0	0	0	0	0	1	0	0	15933	1124	39	1	1541	1	TKTL2	4	164394544	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9140239	164394544	26759732	374	145656											
CLCN3	1182	broad.mit.edu	37	chr4	170618378	170618379	+	Frame_Shift_Ins	INS	-	-	T													tcaaaactttatggagatcaINSttttttgctgctttagtggc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:170618378_170618379insT	uc003isi.2	+	9	1565_1566	c.1056_1057insT	c.(1054-1059)TCATTTfs	p.S352fs	CLCN3_uc003ish.2_Frame_Shift_Ins_p.S352fs|CLCN3_uc011cjz.1_Frame_Shift_Ins_p.S335fs|CLCN3_uc011cka.1_Frame_Shift_Ins_p.S325fs|CLCN3_uc003isj.1_Frame_Shift_Ins_p.S325fs	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	352_353	Helical; (By similarity).				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(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TATGGAGATCATTTTTTGCTGC	0.317													T	170618379	-	T	170618378	7	5	283	1	0	1	1	0	0	0	0	0	3464	204	8	0	1086	0	CLCN3	4	170618378	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	6223834	170618378	20535898	375	145657	771	2									
CLCN3	1182	broad.mit.edu	37	chr4	170618379	170618380	+	Frame_Shift_Ins	INS	-	-	T													caaaactttatggagatcatINStttttgctgctttagtggct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:170618378_170618379A>AT	uc003ish.3	+	8	1615_1616	c.1056_1057A>AT	c.(1054-1059)tcatttfs	p.S352fs	CLCN3_uc003isi.3_Frame_Shift_Ins_p.S352fs|CLCN3_uc011cka.2_Frame_Shift_Ins_p.S325fs|CLCN3_uc011cjz.2_Frame_Shift_Ins_p.S335fs|CLCN3_uc003isj.2_Frame_Shift_Ins_p.S325fs	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	352					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|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)		TATGGAGATCATTTTTTGCTGC	0.317													T	170618380	-	T	170618379	7	5	283	1	0	1	1	0	0	0	0	0	3464	1493	52	0	1087	0	CLCN3	4	170618379	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	170618379	20535897	376	145658	771	2									
DCTD	1635	broad.mit.edu	37	chr4	183815664	183815664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggatgatgagcttagcGcattcattacaagggaacaa	11	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr4:183815664G>A	uc003ivf.2	-	4	513	c.339C>T	c.(337-339)TGC>TGT	p.C113C	DCTD_uc003ivg.2_Silent_p.C124C|DCTD_uc010irw.2_Silent_p.C54C|DCTD_uc003ivh.2_Silent_p.C54C	NM_001921	NP_001912	P32321	DCTD_HUMAN	dCMP deaminase isoform b	113		Zinc; catalytic (By similarity).			nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding				0		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		TGAGCTTAGCGCATTCATTAC	0.473													A	183815664	G	A	183815664	2	1	283	1	0	0	0	0	0	0	0	1	4305	1079	38	1		1	DCTD	4	183815664	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	13197285	183815664	7338612	377	145659											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182187	182187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccttcaagcgaccacacTccaccatctcagacagcagc	5	20	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:182187T>C	uc003jak.2	+	18	3615	c.3565T>C	c.(3565-3567)TCC>CCC	p.S1189P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1189	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCGACCACACTCCACCATCTC	0.632													C	182187	T	C	182187	3	2	283	1	0	0	0	0	1	0	0	0	12072	1551	54	3	3635	3	PLEKHG4B	5	182187	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08		182187	180733073	378	145660											
SDHA	6389	broad.mit.edu	37	chr5	235283	235283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccctgagaaagatcaCgtctacctgcagctgcacca	10	13	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:235283C>T	uc003jao.3	+	9	1204	c.1089C>T	c.(1087-1089)CAC>CAT	p.H363H	SDHA_uc003jan.2_Silent_p.H363H|SDHA_uc011clv.1_Silent_p.H363H|SDHA_uc011clw.1_Silent_p.H315H|SDHA_uc003jap.3_Silent_p.H363H|SDHA_uc003jaq.3_Silent_p.H138H|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	363					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				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AGAAAGATCACGTCTACCTGC	0.572									Familial_Paragangliomas				T	235283	C	T	235283	2	4	283	1	0	0	0	0	0	0	0	1	13963	535	19	1		1	SDHA	5	235283	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	53096	235283	180679977	379	145661											
SLC12A7	10723	broad.mit.edu	37	chr5	1089189	1089189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaagaggatgacgcccaGgatgttctgcaggcacggca	15	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:1089189G>T	uc003jbu.2	-	4	463	c.397C>A	c.(397-399)CTG>ATG	p.L133M		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	133	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	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)	ATGACGCCCAGGATGTTCTGC	0.632													T	1089189	G	T	1089189	3	4	283	1	0	0	0	0	1	0	0	0	14388	991	35	5	2938	5	SLC12A7	5	1089189	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	853906	1089189	179826071	380	145662											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303508	5303508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccagcctgtgccctcagCctgctccctccagcaggcag	11	19	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:5303508C>T	uc003jdl.2	+	19	3055	c.2917C>T	c.(2917-2919)CCT>TCT	p.P973S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P973S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	973	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GTGCCCTCAGCCTGCTCCCTC	0.701													T	5303508	C	T	5303508	3	4	283	1	0	0	0	0	1	0	0	0	261	739	26	2	2991	2	ADAMTS16	5	5303508	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4214319	5303508	175611752	381	145663											
CTNND2	1501	broad.mit.edu	37	chr5	11384986	11384986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatcggggacaggccggccGaggacacgacgatgttgatg	18	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:11384986G>A	uc003jfa.1	-	7	1113	c.968C>T	c.(967-969)TCG>TTG	p.S323L	CTNND2_uc010itt.2_Missense_Mutation_p.S232L|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	323					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CAGGCCGGCCGAGGACACGAC	0.567													A	11384986	G	A	11384986	3	1	283	1	0	0	0	0	1	0	0	0	4020	1059	37	1	2773	1	CTNND2	5	11384986	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6081478	11384986	169530274	382	145664											
DNAH5	1767	broad.mit.edu	37	chr5	13751371	13751371	+	Splice_Site	DEL	T	T	-													ccttgtcaccaactttcaccTtttttataaaaagaaattta							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:13751371delT	uc003jfd.2	-	65	11071	c.11029_splice	c.e65-1	p.V3677_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AACTTTCACCttttttataaa	0.318									Kartagener_syndrome				-	13751371	T	-	13751371	8	5	283	1	0	1	0	1	0	0	1	0	4604	1623	56	0	2907	0	DNAH5	5	13751371	Splice_Site	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	2366385	13751371	167163889	383	145665											
DNAH5	1767	broad.mit.edu	37	chr5	13885313	13885313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatagatgatgtcaaggtgTcaaaatttccttcttctctt	6	7	4	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:13885313T>C	uc003jfd.2	-	19	2810	c.2768A>G	c.(2767-2769)GAC>GGC	p.D923G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	923	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGTCAAGGTGTCAAAATTTCC	0.333									Kartagener_syndrome				C	13885313	T	C	13885313	3	2	283	1	0	0	0	0	1	0	0	0	4604	1667	58	3	11350	3	DNAH5	5	13885313	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	133942	13885313	167029947	384	145666											
FBXL7	23194	broad.mit.edu	37	chr5	15937257	15937257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaaacgccactgcaagCgctgcgtcatcgagcacacc	9	15	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:15937257C>T	uc003jfn.1	+	4	1919	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	480					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CCACTGCAAGCGCTGCGTCAT	0.532													T	15937257	C	T	15937257	3	4	283	1	0	0	0	0	1	0	0	0	5724	768	27	1	1452	1	FBXL7	5	15937257	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2051944	15937257	164978003	385	145667											
CDH18	1016	broad.mit.edu	37	chr5	19473685	19473685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaggattcctcaaggCtgtgatgtcaaaggcctctg	12	9	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:19473685C>A	uc003jgc.2	-	12	2400	c.2023G>T	c.(2023-2025)GCC>TCC	p.A675S	CDH18_uc003jgd.2_Missense_Mutation_p.A675S|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	675	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCCTCAAGGCTGTGATGTCA	0.522													A	19473685	C	A	19473685	3	1	283	1	0	0	0	0	1	0	0	0	3103	797	28	5	353	5	CDH18	5	19473685	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3536428	19473685	161441575	386	145668											
PDZD2	23037	broad.mit.edu	37	chr5	31983413	31983413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgggtgaccgaactgCgaaaaaggggaaacgaacca	15	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:31983413C>T	uc003jhl.2	+	3	1017	c.629C>T	c.(628-630)GCG>GTG	p.A210V	PDZD2_uc003jhm.2_Missense_Mutation_p.A210V|PDZD2_uc011cnx.1_Missense_Mutation_p.A36V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.A210V(1)		central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GACCGAACTGCGAAAAAGGGG	0.542													T	31983413	C	T	31983413	3	4	283	1	0	0	0	0	1	0	0	0	11701	768	27	1	635	1	PDZD2	5	31983413	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	12509728	31983413	148931847	387	145669											
RAI14	26064	broad.mit.edu	37	chr5	34823757	34823757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgagaaataccaagaaGcccaagaagaaatcatgaaa	8	6	1	5			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:34823757G>A	uc003jir.2	+	15	2006	c.1810G>A	c.(1810-1812)GCC>ACC	p.A604T	RAI14_uc010iur.2_Missense_Mutation_p.A575T|RAI14_uc011coj.1_Missense_Mutation_p.A604T|RAI14_uc003jis.2_Missense_Mutation_p.A607T|RAI14_uc003jit.2_Missense_Mutation_p.A604T|RAI14_uc011cok.1_Missense_Mutation_p.A596T	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	604	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					ATACCAAGAAGCCCAAGAAGA	0.373													A	34823757	G	A	34823757	3	1	283	1	0	0	0	0	1	0	0	0	13008	971	34	2	1929	2	RAI14	5	34823757	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2840344	34823757	146091503	388	145670											
NIPBL	25836	broad.mit.edu	37	chr5	36985440	36985440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaaacaaaagagtgatGggcatcctgaaaccccaaaa	7	11	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:36985440G>T	uc003jkl.3	+	10	2657	c.2158G>T	c.(2158-2160)GGG>TGG	p.G720W	NIPBL_uc003jkk.3_Missense_Mutation_p.G720W|NIPBL_uc003jkm.1_Missense_Mutation_p.G599W	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	720					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			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	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)			AAAGAGTGATGGGCATCCTGA	0.453													T	36985440	G	T	36985440	3	4	283	1	0	0	0	0	1	0	0	0	10428	1348	47	5	2192	5	NIPBL	5	36985440	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2161683	36985440	143929820	389	145671											
NUP155	9631	broad.mit.edu	37	chr5	37314390	37314390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgattttcgaaccaactgCtgaattgcctgaagtgaaat	8	7	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:37314390C>T	uc003jku.1	-	22	2464	c.2346G>A	c.(2344-2346)CAG>CAA	p.Q782Q	NUP155_uc003jkt.1_Silent_p.Q723Q|NUP155_uc010iuz.1_Silent_p.Q782Q	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	782					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			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACCAACTGCTGAATTGCCT	0.313													T	37314390	C	T	37314390	2	4	283	1	0	0	0	0	0	0	0	1	10756	796	28	2		2	NUP155	5	37314390	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	328950	37314390	143600870	390	145672											
NUP155	9631	broad.mit.edu	37	chr5	37352911	37352911	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaaaccaggaggtgtcGcacatgaggttgaaagatgc	13	9	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:37352911G>A	uc003jku.1	-	5	602	c.484C>T	c.(484-486)CGA>TGA	p.R162*	NUP155_uc003jkt.1_Nonsense_Mutation_p.R103*|NUP155_uc010iuz.1_Nonsense_Mutation_p.R162*	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	162					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			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAGGTGTCGCACATGAGGT	0.408													A	37352911	G	A	37352911	4	1	283	1	0	0	0	0	0	1	0	0	10756	1095	38	1	3815	1	NUP155	5	37352911	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	38521	37352911	143562349	391	145673											
PRKAA1	5562	broad.mit.edu	37	chr5	40775544	40775546	+	In_Frame_Del	DEL	CTC	CTC	-													acagatataatcaaatagctCtcctcctgagacatattcca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:40775543_40775545TCTC>T	uc003jmb.3	-	2	336_338	c.330_332GAGA>A	c.(328-333)ggagag>ggAg	p.E111del	PRKAA1_uc003jmc.3_In_Frame_Del_p.E111del	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	111	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)	ATCAAATAGCTCTCCTCCTGAGA	0.355													-	40775546	CTC	-	40775544	7	5	283	1	0	1	0	1	0	0	0	0	12493	922	32	0	1425	0	PRKAA1	5	40775544	In_Frame_Del	DEL	CTC	TCGA-HU-A4H8-01A-11D-A25D-08	3422633	40775544	140139716	392	145674											
SEPP1	6414	broad.mit.edu	37	chr5	42807037	42807037	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctttgcttccatttaaaAgagtccagacatctgtttgg	7	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:42807037A>G	uc011cps.1	-	4		c.565T>C			SEPP1_uc011cpt.1_RNA|SEPP1_uc011cpu.1_RNA|SEPP1_uc011cpv.1_RNA|SEPP1_uc003jna.2_RNA			P49908	SEPP1_HUMAN	Homo sapiens cDNA FLJ37321 fis, clone BRAMY2018122.						response to oxidative stress	extracellular region	selenium binding				0						TCCATTTAAAAGAGTCCAGAC	0.313													G	42807037	A	G	42807037	1	3	283	0	1	0	0	0	0	0	0	0	14057	72	3	3		3	SEPP1	5	42807037	RNA	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2031493	42807037	138108223	393	145675											
SNX18	112574	broad.mit.edu	37	chr5	53814902	53814902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctggcgcagtgcgacGtcttccagcacttcctgacg	12	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:53814902G>T	uc003jpj.3	+	1	1310	c.1120G>T	c.(1120-1122)GTC>TTC	p.V374F	SNX18_uc011cqg.1_Missense_Mutation_p.V374F|SNX18_uc003jpi.3_Missense_Mutation_p.V374F	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	374	PX.				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				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCAGTGCGACGTCTTCCAGCA	0.622													T	53814902	G	T	53814902	3	4	283	1	0	0	0	0	1	0	0	0	14889	1145	40	5	1122	5	SNX18	5	53814902	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	11007865	53814902	127100358	394	145676											
SNX18	112574	broad.mit.edu	37	chr5	53815132	53815132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaaccacacggccaaCgagttcgcgcgcaagcaggt	11	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:53815132C>T	uc003jpj.3	+	1	1540	c.1350C>T	c.(1348-1350)AAC>AAT	p.N450N	SNX18_uc011cqg.1_Silent_p.N450N|SNX18_uc003jpi.3_Silent_p.N450N	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	450	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				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACACGGCCAACGAGTTCGCGC	0.607													T	53815132	C	T	53815132	2	4	283	1	0	0	0	0	0	0	0	1	14889	535	19	1		1	SNX18	5	53815132	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	230	53815132	127100128	395	145677											
GZMK	3003	broad.mit.edu	37	chr5	54327395	54327395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagttactacaacggCgacccttttatcaccaaaga	6	12	1	1	rs142007081		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:54327395C>T	uc003jpl.1	+	4	611	c.567C>T	c.(565-567)GGC>GGT	p.G189G		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	189	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACTACAACGGCGACCCTTTTA	0.463													T	54327395	C	T	54327395	2	4	283	1	0	0	0	0	0	0	0	1	6918	755	27	1		1	GZMK	5	54327395	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	512263	54327395	126587865	396	145678											
GPBP1	65056	broad.mit.edu	37	chr5	56531794	56531794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattccaactttcttccagcCgtctttaaatcctgagtatg	5	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:56531794C>T	uc003jrh.3	+	6	1687	c.413C>T	c.(412-414)CCG>CTG	p.P138L	GPBP1_uc010iwg.2_Missense_Mutation_p.P138L|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Missense_Mutation_p.P145L|GPBP1_uc003jrk.3_Missense_Mutation_p.P145L|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCTTCCAGCCGTCTTTAAAT	0.323													T	56531794	C	T	56531794	3	4	283	1	0	0	0	0	1	0	0	0	6595	666	23	1	452	1	GPBP1	5	56531794	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2204399	56531794	124383466	397	145679											
ERCC8	1161	broad.mit.edu	37	chr5	60224781	60224781	+	Frame_Shift_Del	DEL	A	A	-													ctttatttaattccagtcccAaaactcttaaaaataaaagg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:60224781delA	uc003jsm.3	-	2	153	c.83delT	c.(82-84)TTGfs	p.L28fs	ERCC8_uc003jsl.3_5'UTR|ERCC8_uc011cqp.1_5'UTR|ERCC8_uc003jsn.3_Frame_Shift_Del_p.L28fs	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	28					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCCAGTCCCAAAACTCTTAA	0.308								Direct_reversal_of_damage|NER					-	60224781	A	-	60224781	7	5	283	1	0	1	0	1	0	0	0	0	5219	131	5	0	1151	0	ERCC8	5	60224781	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	3692987	60224781	120690479	398	145680											
ADAMTS6	11174	broad.mit.edu	37	chr5	64569200	64569200	+	Frame_Shift_Del	DEL	C	C	-													ttcccagtttgacacagtgtCccctcagctgctggaatact							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:64569200delC	uc003jtp.2	-	12	2401	c.1587delG	c.(1585-1587)GGGfs	p.G529fs	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Frame_Shift_Del_p.G150fs	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	529	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GACACAGTGTCCCCTCAGCTG	0.423													-	64569200	C	-	64569200	7	5	283	1	0	1	0	1	0	0	0	0	270	842	30	0	1822	0	ADAMTS6	5	64569200	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	4344419	64569200	116346060	399	145681											
SV2C	22987	broad.mit.edu	37	chr5	75427714	75427714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatacacccagaggtcctacAgtcggttccaagatgaagaa	9	10	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:75427714A>T	uc003kei.1	+	2	273	c.139A>T	c.(139-141)AGT>TGT	p.S47C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	47	Interaction with SYT1 (By similarity).|Cytoplasmic (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GAGGTCCTACAGTCGGTTCCA	0.498													T	75427714	A	T	75427714	3	4	283	1	0	0	0	0	1	0	0	0	15416	188	7	5	141	5	SV2C	5	75427714	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	10858514	75427714	105487546	400	145682											
NR2F1	7025	broad.mit.edu	37	chr5	92923833	92923833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgcgagctggccgcgcGcctgctcttcagcgccgtcg	13	17	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:92923833G>A	uc003kkj.2	+	2	2361	c.674G>A	c.(673-675)CGC>CAC	p.R225H		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	225					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			urinary_tract(1)|ovary(1)|lung(1)	3		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)		CTGGCCGCGCGCCTGCTCTTC	0.657													A	92923833	G	A	92923833	3	1	283	1	0	0	0	0	1	0	0	0	10627	1087	38	1	680	1	NR2F1	5	92923833	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	17496119	92923833	87991427	401	145683											
NR2F1	7025	broad.mit.edu	37	chr5	92929431	92929431	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgtgtcctcctccgtcatCgagcagctcttcttcgtccg	8	17	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:92929431C>T	uc003kkj.2	+	3	2842	c.1155C>T	c.(1153-1155)ATC>ATT	p.I385I		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	385					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			urinary_tract(1)|ovary(1)|lung(1)	3		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)		CCTCCGTCATCGAGCAGCTCT	0.567													T	92929431	C	T	92929431	2	4	283	1	0	0	0	0	0	0	0	1	10627	874	31	1		1	NR2F1	5	92929431	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5598	92929431	87985829	402	145684											
FAM81B	153643	broad.mit.edu	37	chr5	94782294	94782294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttcaagtaatctgtacGaagaagttgagaataataaa	7	5	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:94782294G>A	uc003kla.1	+	8	968	c.922G>A	c.(922-924)GAA>AAA	p.E308K	FAM81B_uc010jbe.1_Missense_Mutation_p.E104K	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	308										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAATCTGTACGAAGAAGTTGA	0.279													A	94782294	G	A	94782294	3	1	283	1	0	0	0	0	1	0	0	0	5629	1059	37	1	952	1	FAM81B	5	94782294	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1852863	94782294	86132966	403	145685											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631744	101631744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagcgacagtgaccggaGcttctcttcggagacattgg	14	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:101631744G>A	uc003knm.2	-	1	510	c.223C>T	c.(223-225)CTC>TTC	p.L75F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	75	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		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)		AGTGACCGGAGCTTCTCTTCG	0.572													A	101631744	G	A	101631744	3	1	283	1	0	0	0	0	1	0	0	0	14730	971	34	2	2003	2	SLCO4C1	5	101631744	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6849450	101631744	79283516	404	145686											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755728	101755728	+	Splice_Site	DEL	A	A	-													ctggaattaaaacaagtcctAaaaaaaaggaggagaaaaac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						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)		AAACAAGTCCTAAAAAAAAGG	0.343													-	101755728	A	-	101755728	8	5	283	1	0	1	0	1	0	0	1	0	14732	377	13	0		0	SLCO6A1	5	101755728	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	123984	101755728	79159532	405	145687											
KCNN2	3781	broad.mit.edu	37	chr5	113698585	113698585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccctgcagccccccgCgtctgtcggaggaggtggcg	16	16	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:113698585C>T	uc003kqo.2	+	1	570	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	38						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		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)		CAGCCCCCCGCGTCTGTCGGA	0.711													T	113698585	C	T	113698585	3	4	283	1	0	0	0	0	1	0	0	0	8079	768	27	1	115	1	KCNN2	5	113698585	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	11942857	113698585	67216675	406	145688											
ATG12	9140	broad.mit.edu	37	chr5	115177372	115177372	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaattacacagtgaaacttGgtgttcccggctagtcattc	9	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:115177372G>A	uc003krh.2	-	1	128	c.19C>T	c.(19-21)CAA>TAA	p.Q7*	AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Nonsense_Mutation_p.Q7*|ATG12_uc003krj.2_RNA	NM_004707	NP_004698	O94817	ATG12_HUMAN	APG12 autophagy 12-like	Error:Variant_position_missing_in_O94817_after_alignment					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AGTGAAACTTGGTGTTCCCGG	0.567													A	115177372	G	A	115177372	4	1	283	1	0	0	0	0	0	1	0	0	1090	1363	47	4		4	ATG12	5	115177372	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1478787	115177372	65737888	407	145689											
FTMT	94033	broad.mit.edu	37	chr5	121188080	121188080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgaggaggccggatccGcctgcaggacatcaagaagc	14	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:121188080G>A	uc003kss.2	+	1	431	c.422G>A	c.(421-423)CGC>CAC	p.R141H		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	141	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCGGATCCGCCTGCAGGAC	0.572													A	121188080	G	A	121188080	3	1	283	1	0	0	0	0	1	0	0	0	6085	1087	38	1	424	1	FTMT	5	121188080	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6010708	121188080	59727180	408	145690											
LOX	4015	broad.mit.edu	37	chr5	121413317	121413317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttggaaccagtgacGggcggtgggcctggggcggc	20	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:121413317G>A	uc003ksu.2	-	1	739	c.364C>T	c.(364-366)CGT>TGT	p.R122C	LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	122					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		AACCAGTGACGGGCGGTGGGC	0.701													A	121413317	G	A	121413317	3	1	283	1	0	0	0	0	1	0	0	0	8898	1116	39	1	917	1	LOX	5	121413317	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	225237	121413317	59501943	409	145691											
FBN2	2201	broad.mit.edu	37	chr5	127610311	127610312	+	Frame_Shift_Ins	INS	-	-	C													gtggacatttacaggtaaacINSccccccagggtgttgacaca					rs151053868		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:127610310_127610311A>AC	uc003kuu.3	-	59	8098_8099	c.7659_7660T>GT	c.(7657-7662)gggtttfs	p.G2553fs		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2553	EGF-like 43; 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)		TTACAGGTAAACCCCCCCAGGG	0.421													C	127610312	-	C	127610311	7	5	283	1	0	1	1	0	0	0	0	0	5703	494	18	0	1103	0	FBN2	5	127610311	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	6196994	127610311	53304949	410	145692											
SHROOM1	134549	broad.mit.edu	37	chr5	132158995	132158995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggcgcggcgcacgcGcgccaggcgactgcccagca	17	17	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:132158995G>A	uc003kxx.2	-	9	2978	c.2173C>T	c.(2173-2175)CGC>TGC	p.R725C	SHROOM1_uc003kxy.1_Missense_Mutation_p.R725C	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	725	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGGCGCACGCGCGCCAGGCGA	0.697													A	132158995	G	A	132158995	3	1	283	1	0	0	0	0	1	0	0	0	14293	1087	38	1	393	1	SHROOM1	5	132158995	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4548684	132158995	48756265	411	145693											
FSTL4	23105	broad.mit.edu	37	chr5	132545909	132545909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggtcgggacttgtgcaCgtccccccagctcaggaccc	11	16	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:132545909C>T	uc003kyn.1	-	14	1908	c.1690G>A	c.(1690-1692)GTG>ATG	p.V564M	FSTL4_uc003kym.1_Missense_Mutation_p.V213M	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	564						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTTGTGCACGTCCCCCCAG	0.498													T	132545909	C	T	132545909	3	4	283	1	0	0	0	0	1	0	0	0	6079	536	19	1	850	1	FSTL4	5	132545909	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	386914	132545909	48369351	412	145694											
TCF7	6932	broad.mit.edu	37	chr5	133481970	133481970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgctgccccagccccGttccttccgatgacagtgct	10	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:133481970G>A	uc003kyt.2	+	10	1327	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P	TCF7_uc003kyv.2_3'UTR|TCF7_uc003kyw.2_Silent_p.P262P|TCF7_uc003kyx.2_Silent_p.P175P|TCF7_uc003kyy.2_Silent_p.P262P|TCF7_uc003kyz.2_Missense_Mutation_p.V287I|TCF7_uc003kza.2_3'UTR|TCF7_uc003kzb.2_Silent_p.P191P|TCF7_uc010jdu.2_RNA	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	Error:Variant_position_missing_in_P36402_after_alignment					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				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCAGCCCCGTTCCTTCCGA	0.557											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	133481970	G	A	133481970	2	1	283	1	0	0	0	0	0	0	0	1	15693	1132	40	1		1	TCF7	5	133481970	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	936061	133481970	47433290	413	145695											
CDKL3	51265	broad.mit.edu	37	chr5	133536190	133536190	+	Splice_Site	DEL	A	A	-													caagtcacacattggaccctAaaaaataacttcaagttata							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:133536189_133536189TA>T	uc003kze.3	-	5	975	c.577_splice	c.e5-1	p.G193_splice		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	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)			CATTGGACCCTAAAAAATAAC	0.413													-	133536190	A	-	133536190	8	5	283	1	0	1	0	1	0	0	1	0	3155	377	13	0		0	CDKL3	5	133536190	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	54220	133536190	47379070	414	145696											
PITX1	5307	broad.mit.edu	37	chr5	134364669	134364669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgagcgaggagccggTgaggttgttgatgttgttga	18	4	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:134364669T>C	uc010jea.2	-	3	1138	c.745A>G	c.(745-747)ACC>GCC	p.T249A	PITX1_uc011cxy.1_Missense_Mutation_p.T249A	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	249	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GAGGAGCCGGTGAGGTTGTTG	0.662													C	134364669	T	C	134364669	3	2	283	1	0	0	0	0	1	0	0	0	11954	1696	59	3	203	3	PITX1	5	134364669	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	828479	134364669	46550591	415	145697											
NEUROG1	4762	broad.mit.edu	37	chr5	134870907	134870907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggcgctcccgggcaccGcctccgggcagcccttgatc	14	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:134870907G>A	uc003lax.2	-	1	733	c.474C>T	c.(472-474)GGC>GGT	p.G158G		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	158					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCGGGCACCGCCTCCGGGCA	0.711													A	134870907	G	A	134870907	2	1	283	1	0	0	0	0	0	0	0	1	10352	1074	38	1		1	NEUROG1	5	134870907	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	506238	134870907	46044353	416	145698											
TRPC7	57113	broad.mit.edu	37	chr5	135692587	135692587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgatgggcgtgatgtcGtgggagaagcgcgtgccgtc	19	7	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:135692587G>A	uc003lbn.1	-	1	489	c.486C>T	c.(484-486)CAC>CAT	p.H162H	TRPC7_uc010jef.1_Silent_p.H154H|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.H154H|TRPC7_uc010jei.1_Silent_p.H154H|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	163	Cytoplasmic (Potential).|ANK 4.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCGTGATGTCGTGGGAGAAGC	0.662													A	135692587	G	A	135692587	2	1	283	1	0	0	0	0	0	0	0	1	16581	1136	40	1		1	TRPC7	5	135692587	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	821680	135692587	45222673	417	145699											
TRPC7	57113	broad.mit.edu	37	chr5	135692718	135692718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatggcctccacgatgcGcacatagcccttgctgatgg	13	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:135692718G>A	uc003lbn.1	-	1	358	c.355C>T	c.(355-357)CGC>TGC	p.R119C	TRPC7_uc010jef.1_Missense_Mutation_p.R111C|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R111C|TRPC7_uc010jei.1_Missense_Mutation_p.R111C|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	120	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCACGATGCGCACATAGCCC	0.662													A	135692718	G	A	135692718	3	1	283	1	0	0	0	0	1	0	0	0	16581	1087	38	1	2274	1	TRPC7	5	135692718	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	131	135692718	45222542	418	145700											
CDC25C	995	broad.mit.edu	37	chr5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-													ttccttggccagaaaaatacTtttttttaactttatctggt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|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	WW domain binding|protein tyrosine phosphatase activity			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)			CAGAAAAATACTTTTTTTTAA	0.383													-	137627690	T	-	137627690	7	5	283	1	0	1	0	1	0	0	0	0	3064	1609	56	0	718	0	CDC25C	5	137627690	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	1934972	137627690	43287570	419	145701											
LRRTM2	26045	broad.mit.edu	37	chr5	138208851	138208851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgtgtttgggatcggaGctgcctgtggttctgaacca	15	8	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:138208851G>T	uc011cyz.1	-	2	1856	c.1399C>A	c.(1399-1401)CTC>ATC	p.L467I	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_RNA|LRRTM2_uc011cza.1_Missense_Mutation_p.L333I|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	467	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGGATCGGAGCTGCCTGTGG	0.423													T	138208851	G	T	138208851	3	4	283	1	0	0	0	0	1	0	0	0	9040	971	34	5	155	5	LRRTM2	5	138208851	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	581161	138208851	42706409	420	145702											
DNAJC18	202052	broad.mit.edu	37	chr5	138773104	138773104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactatacgtggagttccCctcaccctgccgggtctgag	10	15	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:138773104C>T	uc003len.2	-	2	189	c.184G>A	c.(184-186)GGG>AGG	p.G62R	DNAJC18_uc010jff.2_Missense_Mutation_p.G62R	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	62					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGGAGTTCCCCTCACCCTGC	0.398													T	138773104	C	T	138773104	3	4	283	1	0	0	0	0	1	0	0	0	4637	623	22	4	920	4	DNAJC18	5	138773104	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	564253	138773104	42142156	421	145703											
NDUFA2	4695	broad.mit.edu	37	chr5	140027106	140027106	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgagcgctgacataagtgGatgcgaatctcacgcaggcc	14	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140027106G>A	uc003lgp.2	-	1	135	c.63C>T	c.(61-63)ATC>ATT	p.I21I	IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	NM_002488	NP_002479	O43678	NDUA2_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	21					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		NADH(DB00157)	GACATAAGTGGATGCGAATCT	0.657													A	140027106	G	A	140027106	2	1	283	1	0	0	0	0	0	0	0	1	10264	1164	41	4		4	NDUFA2	5	140027106	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1254002	140027106	40888154	422	145704											
HARS2	23438	broad.mit.edu	37	chr5	140077214	140077214	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggccacaccacagaagAactttctccaagaacggttg	9	11	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140077214A>G	uc003lgx.2	+	11	1474	c.1258A>G	c.(1258-1260)AAC>GAC	p.N420D	HARS2_uc011czr.1_Missense_Mutation_p.N395D|HARS2_uc011czs.1_Missense_Mutation_p.N276D|HARS2_uc011czt.1_Missense_Mutation_p.N248D|HARS2_uc011czu.1_Missense_Mutation_p.N246D|ZMAT2_uc003lgy.1_5'Flank	NM_012208	NP_036340	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2 precursor	420					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACAGAAGAACTTTCTCCA	0.433													G	140077214	A	G	140077214	3	3	283	1	0	0	0	0	1	0	0	0	6960	246	9	3	1300	3	HARS2	5	140077214	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	50108	140077214	40838046	423	145705											
PCDHA3	56145	broad.mit.edu	37	chr5	140182243	140182243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcggacgcgcaggagaaCgccctggtgtcctactcgct	14	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140182243C>T	uc003lhf.2	+	1	1461	c.1461C>T	c.(1459-1461)AAC>AAT	p.N487N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.N487N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	487	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCCCTGGTGT	0.667													T	140182243	C	T	140182243	2	4	283	1	0	0	0	0	0	0	0	1	11525	535	19	1		1	PCDHA3	5	140182243	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	105029	140182243	40733017	424	145706											
PCDHA4	56144	broad.mit.edu	37	chr5	140188216	140188216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtgtctgcgtgggacGcggacgcgcaggagaacgcg	17	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140188216G>A	uc003lhi.2	+	1	1545	c.1444G>A	c.(1444-1446)GCG>ACG	p.A482T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A482T|PCDHA4_uc011daa.1_Missense_Mutation_p.A482T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.657													A	140188216	G	A	140188216	3	1	283	1	0	0	0	0	1	0	0	0	11526	1087	38	1	1446	1	PCDHA4	5	140188216	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5973	140188216	40727044	425	145707											
PCDHA7	56141	broad.mit.edu	37	chr5	140215247	140215247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagctggtggttaccGcgcgggacgggggctcgcct	17	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140215247G>A	uc003lhq.2	+	1	1279	c.1279G>A	c.(1279-1281)GCG>ACG	p.A427T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A427T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTACCGCGCGGGACGG	0.622													A	140215247	G	A	140215247	3	1	283	1	0	0	0	0	1	0	0	0	11529	1087	38	1	1281	1	PCDHA7	5	140215247	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	27031	140215247	40700013	426	145708											
PCDHA11	56138	broad.mit.edu	37	chr5	140250554	140250554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgcgcatcccgttccgCgtggggctgtacacgggcga	16	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140250554C>T	uc003lia.2	+	1	2724	c.1866C>T	c.(1864-1866)CGC>CGT	p.R622R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.R622R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.647													T	140250554	C	T	140250554	2	4	283	1	0	0	0	0	0	0	0	1	11521	755	27	1		1	PCDHA11	5	140250554	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	35307	140250554	40664706	427	145709											
PCDHA12	56137	broad.mit.edu	37	chr5	140256852	140256852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcgcgcggtggacGctgactccggctataacgct	14	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140256852G>A	uc003lic.2	+	1	1922	c.1795G>A	c.(1795-1797)GCT>ACT	p.A599T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A599T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	599	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGGACGCTGACTCCGG	0.682													A	140256852	G	A	140256852	3	1	283	1	0	0	0	0	1	0	0	0	11522	1087	38	1	1797	1	PCDHA12	5	140256852	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6298	140256852	40658408	428	145710											
PCDHA13	56136	broad.mit.edu	37	chr5	140263524	140263524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgctccggc	14	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140263524C>T	uc003lif.2	+	1	1671	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.D557D|PCDHA13_uc003lid.2_Silent_p.D557D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.697													T	140263524	C	T	140263524	2	4	283	1	0	0	0	0	0	0	0	1	11523	535	19	1		1	PCDHA13	5	140263524	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6672	140263524	40651736	429	145711											
PCDHB2	56133	broad.mit.edu	37	chr5	140475274	140475274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgattaagtgcaaaatcGggagaactgcttttaagaca	9	6	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140475274G>A	uc003lil.2	+	1	1038	c.900G>A	c.(898-900)TCG>TCA	p.S300S	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	300	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCAAAATCGGGAGAACTGC	0.418													A	140475274	G	A	140475274	2	1	283	1	0	0	0	0	0	0	0	1	11542	1103	39	1		1	PCDHB2	5	140475274	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	211750	140475274	40439986	430	145712											
PCDHB7	56129	broad.mit.edu	37	chr5	140553683	140553683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacaacatcaccatcaccGtcaccgacttggggacaccc	7	16	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140553683G>A	uc003lit.2	+	1	1441	c.1267G>A	c.(1267-1269)GTC>ATC	p.V423I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	423	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCATCACCGTCACCGACTT	0.517													A	140553683	G	A	140553683	3	1	283	1	0	0	0	0	1	0	0	0	11547	1145	40	1	1269	1	PCDHB7	5	140553683	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	78409	140553683	40361577	431	145713											
PCDHB12	56124	broad.mit.edu	37	chr5	140589878	140589878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcgagaacaacagccccGccctgcacatcggcagcatc	9	18	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140589878G>A	uc003liz.2	+	1	1588	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	PCDHB12_uc011dak.1_Missense_Mutation_p.A130T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	467	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.637													A	140589878	G	A	140589878	3	1	283	1	0	0	0	0	1	0	0	0	11537	1087	38	1	1401	1	PCDHB12	5	140589878	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	36195	140589878	40325382	432	145714											
PCDHB13	56123	broad.mit.edu	37	chr5	140594150	140594150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagtcctcctgggactaCgtttcctctgaagaatgccg	11	12	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140594150C>T	uc003lja.1	+	1	642	c.455C>T	c.(454-456)ACG>ATG	p.T152M		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	152	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGGACTACGTTTCCTCTG	0.438													T	140594150	C	T	140594150	3	4	283	1	0	0	0	0	1	0	0	0	11538	536	19	1	457	1	PCDHB13	5	140594150	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4272	140594150	40321110	433	145715											
PCDHB15	56121	broad.mit.edu	37	chr5	140626476	140626476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccgtgctggtgtcggacGtcaatgacaacgcccccgcc	11	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140626476G>A	uc003lje.2	+	1	1330	c.1330G>A	c.(1330-1332)GTC>ATC	p.V444I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	444	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGTCGGACGTCAATGACAA	0.587													A	140626476	G	A	140626476	3	1	283	1	0	0	0	0	1	0	0	0	11540	1145	40	1	1332	1	PCDHB15	5	140626476	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	32326	140626476	40288784	434	145716											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggcggccgcggtctcctgcg	16	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140712338C>T	uc003lji.1	+	1	2087	c.2087C>T	c.(2086-2088)GCG>GTG	p.A696V	PCDHGA1_uc011dan.1_Missense_Mutation_p.A696V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	696	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672													T	140712338	C	T	140712338	3	4	283	1	0	0	0	0	1	0	0	0	11550	768	27	1	2089	1	PCDHGA1	5	140712338	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	85862	140712338	40202922	435	145717											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755314	140755314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgtttgtgctggaccAgaatgacaatgcgcccgaga	13	10	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140755314A>G	uc003ljy.1	+	1	1664	c.1664A>G	c.(1663-1665)CAG>CGG	p.Q555R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.Q555R	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGACCAGAATGACAAT	0.637													G	140755314	A	G	140755314	3	3	283	1	0	0	0	0	1	0	0	0	11558	188	7	3	1666	3	PCDHGA6	5	140755314	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	42976	140755314	40159946	436	145718											
PCDHGB5	56101	broad.mit.edu	37	chr5	140779357	140779357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgaccgaaacgacaacGcaccgcgggtgctgtacccc	13	15	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140779357G>A	uc003lkf.1	+	1	1663	c.1663G>A	c.(1663-1665)GCA>ACA	p.A555T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A555T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	555	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGACAACGCACCGCGGGT	0.677													A	140779357	G	A	140779357	3	1	283	1	0	0	0	0	1	0	0	0	11566	1087	38	1	1665	1	PCDHGB5	5	140779357	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	24043	140779357	40135903	437	145719											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784685	140784685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcactggcactcctcGcatctgctgcgggctaccag	12	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:140784685G>A	uc003lkh.1	+	1	2166	c.2166G>A	c.(2164-2166)TCG>TCA	p.S722S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.S722S	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	722	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACTCCTCGCATCTGCTGC	0.577													A	140784685	G	A	140784685	2	1	283	1	0	0	0	0	0	0	0	1	11561	1074	38	1		1	PCDHGA9	5	140784685	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5328	140784685	40130575	438	145720											
SLC36A1	206358	broad.mit.edu	37	chr5	150847278	150847278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattctaggtgatagaagCggccaatgggaccaccaata	10	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:150847278C>T	uc003luc.2	+	7	732	c.515C>T	c.(514-516)GCG>GTG	p.A172V	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.A172V|SLC36A1_uc010jhw.1_Missense_Mutation_p.A172V	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	172	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GTGATAGAAGCGGCCAATGGG	0.532													T	150847278	C	T	150847278	3	4	283	1	0	0	0	0	1	0	0	0	14593	768	27	1	537	1	SLC36A1	5	150847278	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10062593	150847278	30067982	439	145721											
SGCD	6444	broad.mit.edu	37	chr5	155771622	155771622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctttgtcctgctcctcAtgattttaatactggtgaac	6	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:155771622A>G	uc003lwd.3	+	2	600	c.124A>G	c.(124-126)ATG>GTG	p.M42V	SGCD_uc003lwa.1_Missense_Mutation_p.M43V|SGCD_uc003lwb.2_Missense_Mutation_p.M43V|SGCD_uc003lwc.3_Missense_Mutation_p.M43V	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 3	42	Helical; Signal-anchor for type II membrane protein; (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCTCCTCATGATTTTAAT	0.458													G	155771622	A	G	155771622	3	3	283	1	0	0	0	0	1	0	0	0	14201	217	8	3	133	3	SGCD	5	155771622	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	4924344	155771622	25143638	440	145722											
SOX30	11063	broad.mit.edu	37	chr5	157065329	157065329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtggctggatggccaaGgggagggggctggtagacat	20	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:157065329G>T	uc003lxb.1	-	4	2131	c.1789C>A	c.(1789-1791)CTT>ATT	p.L597I	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.L292I	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	597	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	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)			GGATGGCCAAGGGGAGGGGGC	0.537													T	157065329	G	T	157065329	3	4	283	1	0	0	0	0	1	0	0	0	14952	1000	35	5	480	5	SOX30	5	157065329	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1293707	157065329	23849931	441	145723											
RNF145	153830	broad.mit.edu	37	chr5	158596066	158596066	+	Splice_Site	DEL	A	A	-													actccttctgtcatgcccctAaaaaaagcatacattttcag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						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)			GTCATGCCCCTAAAAAAAGCA	0.363													-	158596066	A	-	158596066	8	5	283	1	0	1	0	1	0	0	1	0	13447	377	13	0		0	RNF145	5	158596066	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	1530737	158596066	22319194	442	145724											
MAT2B	27430	broad.mit.edu	37	chr5	162943585	162943586	+	Frame_Shift_Del	DEL	TG	TG	-													gaaaagctcgaagaaagtgcTgtgactgttatgtttgataa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:162943585_162943586delTG	uc003lzk.2	+	5	696_697	c.588_589delTG	c.(586-591)GCTGTGfs	p.A196fs	MAT2B_uc003lzj.2_Frame_Shift_Del_p.A185fs|MAT2B_uc003lzl.1_Frame_Shift_Del_p.A196fs|MAT2B_uc003lzm.2_5'Flank	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	196_197					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGAAAGTGCTGTGACTGTTAT	0.421													-	162943586	TG	-	162943585	7	5	283	1	0	1	0	1	0	0	0	0	9331	1567	55	0	640	0	MAT2B	5	162943585	Frame_Shift_Del	DEL	TG	TCGA-HU-A4H8-01A-11D-A25D-08	4347519	162943585	17971675	443	145725											
SLIT3	6586	broad.mit.edu	37	chr5	168175427	168175431	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-													gcgggctcagctggcagctaCtctcctcgttgcctgtggag					rs34681650		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:168175426_168175430ACTCTC>A	uc010jjg.3	-	19	2567_2571	c.2147_2151GAGAGT>T	c.(2146-2151)gagagtfs	p.E716fs	SLIT3_uc003mab.3_Frame_Shift_Del_p.E716fs	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	716	LRRNT 4.				Roundabout signaling pathway|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	extracellular space|mitochondrion	Roundabout binding|calcium ion 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)			GCTGGCAGCTACTCTCCTCGTTGCC	0.639													-	168175431	CTCTC	-	168175427	7	5	283	1	0	1	0	1	0	0	0	0	14741	565	20	0	2489	0	SLIT3	5	168175427	Frame_Shift_Del	DEL	CTCTC	TCGA-HU-A4H8-01A-11D-A25D-08	5231842	168175427	12739833	444	145726											
STC2	8614	broad.mit.edu	37	chr5	172750373	172750373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttccggcttatgcagcCgaacctgtgccgcagagcgt	12	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:172750373C>T	uc003mco.1	-	3	1665	c.355G>A	c.(355-357)GGC>AGC	p.G119S	STC2_uc003mcn.1_Missense_Mutation_p.G34S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	119					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	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)			CTTATGCAGCCGAACCTGTGC	0.597													T	172750373	C	T	172750373	3	4	283	1	0	0	0	0	1	0	0	0	15275	652	23	1	561	1	STC2	5	172750373	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4574946	172750373	8164887	445	145727											
RNF44	22838	broad.mit.edu	37	chr5	175956364	175956364	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagcagctgccgcgcctcGaagtcactgaagcagaccac	12	15	1	2	rs148448080		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:175956364G>A	uc003mek.1	-	10	1686	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	RNF44_uc011dfo.1_Silent_p.F295F|RNF44_uc003mel.1_Silent_p.F76F	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	387	RING-type; atypical.						zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCGCCTCGAAGTCACTGA	0.612													A	175956364	G	A	175956364	2	1	283	1	0	0	0	0	0	0	0	1	13496	1049	37	1		1	RNF44	5	175956364	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3205991	175956364	4958896	446	145728											
HK3	3101	broad.mit.edu	37	chr5	176314250	176314250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaatggagtagatctcGctggtgatctgcacgcctgt	14	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:176314250G>A	uc003mfa.2	-	12	1781	c.1689C>T	c.(1687-1689)AGC>AGT	p.S563S	HK3_uc003mez.2_Silent_p.S119S	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	563	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	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)			AGTAGATCTCGCTGGTGATCT	0.627													A	176314250	G	A	176314250	2	1	283	1	0	0	0	0	0	0	0	1	7192	1078	38	1		1	HK3	5	176314250	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	357886	176314250	4601010	447	145729											
DDX41	51428	broad.mit.edu	37	chr5	176940764	176940764	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcgtccagggccagGtagcgacagatgtctaggct	13	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:176940764G>T	uc003mho.2	-	10	1041	c.1020C>A	c.(1018-1020)TAC>TAA	p.Y340*	DDX41_uc003mhm.2_Nonsense_Mutation_p.Y120*|DDX41_uc003mhn.2_Nonsense_Mutation_p.Y209*|DDX41_uc003mhp.2_Nonsense_Mutation_p.Y209*|DDX41_uc003mhq.1_Nonsense_Mutation_p.Y120*	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	340	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	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)			CCAGGGCCAGGTAGCGACAGA	0.617													T	176940764	G	T	176940764	4	4	283	1	0	0	0	0	0	1	0	0	4361	1256	44	5	880	5	DDX41	5	176940764	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	626514	176940764	3974496	448	145730											
RMND5B	64777	broad.mit.edu	37	chr5	177571054	177571054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccccgcgaagcagctGgaggccctcagctatgctcg	15	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:177571054G>A	uc003mim.2	+	7	819	c.639G>A	c.(637-639)CTG>CTA	p.L213L	RMND5B_uc003min.2_Silent_p.L213L|RMND5B_uc003mio.2_Silent_p.L200L|RMND5B_uc003mip.2_Silent_p.L213L|RMND5B_uc011dgf.1_Silent_p.L254L|RMND5B_uc003miq.2_Silent_p.L153L	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	213										ovary(1)|skin(1)	2	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)			CGAAGCAGCTGGAGGCCCTCA	0.652													A	177571054	G	A	177571054	2	1	283	1	0	0	0	0	0	0	0	1	13398	1335	47	4		4	RMND5B	5	177571054	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	630290	177571054	3344206	449	145731											
ZNF354A	6940	broad.mit.edu	37	chr5	178154086	178154086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctttctccactcatctCgggtaaacagcacagccaca	6	16	3	0	rs142465132	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:178154086C>T	uc003mjj.2	-	3	272	c.74G>A	c.(73-75)CGA>CAA	p.R25Q		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	25	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		CCACTCATCTCGGGTAAACAG	0.537													T	178154086	C	T	178154086	3	4	283	1	0	0	0	0	1	0	0	0	17861	884	31	1	1755	1	ZNF354A	5	178154086	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	583032	178154086	2761174	450	145732											
GRM6	2916	broad.mit.edu	37	chr5	178410152	178410152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgctcggggtccaccGtccgctgttcctcatagtca	11	15	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:178410152G>A	uc003mjr.2	-	9	2374	c.2195C>T	c.(2194-2196)ACG>ATG	p.T732M	GRM6_uc003mjq.2_Missense_Mutation_p.T135M	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	732	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	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)		GGGGTCCACCGTCCGCTGTTC	0.627													A	178410152	G	A	178410152	3	1	283	1	0	0	0	0	1	0	0	0	6801	1145	40	1	446	1	GRM6	5	178410152	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	256066	178410152	2505108	451	145733											
CANX	821	broad.mit.edu	37	chr5	179132840	179132840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagataccactgctcctcCttcatctcccaaggtttgaa	5	15	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:179132840C>A	uc003mkk.2	+	2	335	c.158C>A	c.(157-159)CCT>CAT	p.P53H	CANX_uc011dgp.1_Missense_Mutation_p.P88H|CANX_uc010jlb.1_Intron|CANX_uc003mkl.2_Missense_Mutation_p.P53H|CANX_uc011dgq.1_5'UTR	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	53	Lumenal (Potential).				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				0	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)	ACTGCTCCTCCTTCATCTCCC	0.259													A	179132840	C	A	179132840	3	1	283	1	0	0	0	0	1	0	0	0	2618	681	24	5	160	5	CANX	5	179132840	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	722688	179132840	1782420	452	145734											
FLT4	2324	broad.mit.edu	37	chr5	180047278	180047278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccatgatgatggacaGgtagcccgtcttgatgtctg	15	8	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:180047278G>T	uc003mma.3	-	17	2516	c.2437C>A	c.(2437-2439)CTG>ATG	p.L813M	FLT4_uc003mlz.3_Missense_Mutation_p.L813M|FLT4_uc003mmb.1_Missense_Mutation_p.L346M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	813	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	ATGATGGACAGGTAGCCCGTC	0.627									Congenital_Hereditary_Lymphedema				T	180047278	G	T	180047278	3	4	283	1	0	0	0	0	1	0	0	0	5944	991	35	5	1718	5	FLT4	5	180047278	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	914438	180047278	867982	453	145735											
FLT4	2324	broad.mit.edu	37	chr5	180052971	180052971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcaggtgagggcctggCggctgtgacgcgagtagatg	19	9	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr5:180052971C>T	uc003mma.3	-	10	1398	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	FLT4_uc003mlz.3_Missense_Mutation_p.R440H|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.R440H	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	440	Ig-like C2-type 5.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	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)	GAGGGCCTGGCGGCTGTGACG	0.657									Congenital_Hereditary_Lymphedema				T	180052971	C	T	180052971	3	4	283	1	0	0	0	0	1	0	0	0	5944	768	27	1	2864	1	FLT4	5	180052971	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5693	180052971	862289	454	145736											
FAM50B	26240	broad.mit.edu	37	chr6	3850440	3850440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacctcgatgaccaggccgAcgcggccgaggccaggcgcg	16	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:3850440A>G	uc003mvu.2	+	2	507	c.395A>G	c.(394-396)GAC>GGC	p.D132G		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	132						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GACCAGGCCGACGCGGCCGAG	0.547													G	3850440	A	G	3850440	3	3	283	1	0	0	0	0	1	0	0	0	5578	275	10	3	397	3	FAM50B	6	3850440	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08		3850440	167264627	455	145737											
F13A1	2162	broad.mit.edu	37	chr6	6266819	6266819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggattgaagagaatgtaCgtgtctgtttctgggtttcg	13	5	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:6266819C>T	uc003mwv.2	-	4	666	c.543G>A	c.(541-543)ACG>ACA	p.T181T	F13A1_uc011dib.1_Silent_p.T118T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	181					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAGAATGTACGTGTCTGTTT	0.368													T	6266819	C	T	6266819	2	4	283	1	0	0	0	0	0	0	0	1	5340	523	19	1		1	F13A1	6	6266819	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2416379	6266819	164848248	456	145738											
RREB1	6239	broad.mit.edu	37	chr6	7229250	7229250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtgcgaaacaaacctGcggaggtgcatcagcgagca	14	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:7229250G>A	uc003mxc.2	+	10	1308	c.918G>A	c.(916-918)CTG>CTA	p.L306L	RREB1_uc003mxb.2_Silent_p.L306L|RREB1_uc010jnx.2_Silent_p.L306L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	306					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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAACAAACCTGCGGAGGTGCA	0.502													A	7229250	G	A	7229250	2	1	283	1	0	0	0	0	0	0	0	1	13679	1306	46	2		2	RREB1	6	7229250	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	962431	7229250	163885817	457	145739											
RREB1	6239	broad.mit.edu	37	chr6	7248772	7248772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatacaaatgtcagacctgCgagcgaaccttcaccttgaa	7	13	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:7248772C>T	uc003mxc.2	+	12	5025	c.4635C>T	c.(4633-4635)TGC>TGT	p.C1545C	RREB1_uc003mxb.2_Silent_p.C1600C|RREB1_uc010jnx.2_Silent_p.C1334C	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1545	C2H2-type 15.				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			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCAGACCTGCGAGCGAACCT	0.542													T	7248772	C	T	7248772	2	4	283	1	0	0	0	0	0	0	0	1	13679	776	27	1		1	RREB1	6	7248772	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	19522	7248772	163866295	458	145740											
BMP6	654	broad.mit.edu	37	chr6	7862640	7862640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgaggtgcacgtgcgCaccaccaggtcagcctccag	14	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:7862640C>T	uc003mxu.3	+	4	1291	c.1113C>T	c.(1111-1113)CGC>CGT	p.R371R		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	371					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			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TGCACGTGCGCACCACCAGGT	0.637													T	7862640	C	T	7862640	2	4	283	1	0	0	0	0	0	0	0	1	1464	697	25	2		2	BMP6	6	7862640	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	613868	7862640	163252427	459	145741											
HIVEP1	3096	broad.mit.edu	37	chr6	12123069	12123069	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcctcagattctacactacaGagtcgctgggtcctccggca	10	14	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:12123069G>T	uc003nac.2	+	4	3220	c.3041G>T	c.(3040-3042)AGA>ATA	p.R1014I	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1014					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTACACTACAGAGTCGCTGGG	0.493													T	12123069	G	T	12123069	3	4	283	1	0	0	0	0	1	0	0	0	7186	942	33	5	3051	5	HIVEP1	6	12123069	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4260429	12123069	158991998	460	145742											
RANBP9	10048	broad.mit.edu	37	chr6	13711196	13711196	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcacccgcaggttgttctgaGagaggccgatgtagctgaac	14	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:13711196G>C	uc003nbb.2	-	1	601	c.542C>G	c.(541-543)TCT>TGT	p.S181C		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	181	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTTGTTCTGAGAGAGGCCGAT	0.667													C	13711196	G	C	13711196	3	2	283	1	0	0	0	0	1	0	0	0	13032	942	33	5	1703	5	RANBP9	6	13711196	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1588127	13711196	157403871	461	145743											
JARID2	3720	broad.mit.edu	37	chr6	15513220	15513221	+	Frame_Shift_Ins	INS	-	-	A													agattgcacaagcagaagcaINSaaaaaagaaaacggtcccac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:15513219_15513220C>CA	uc003nbj.3	+	14	3453_3454	c.3209_3210C>CA	c.(3208-3210)gcafs	p.A1070fs	JARID2_uc011div.2_Frame_Shift_Ins_p.A898fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1070					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	p.E1069K(1)		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)				CAAGCAGAAGCAAAAAAAGAAA	0.52													A	15513221	-	A	15513220	7	5	283	1	0	1	1	0	0	0	0	0	7945	117	5	0	3268	0	JARID2	6	15513220	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1802024	15513220	155601847	462	145744											
ID4	3400	broad.mit.edu	37	chr6	19838301	19838301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacatcctggacctgcagCtggcgctggagacgcacccg	12	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:19838301C>T	uc003ncw.2	+	1	685	c.316C>T	c.(316-318)CTG>TTG	p.L106L		NM_001546	NP_001537	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative	106							transcription corepressor activity				0	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			GGACCTGCAGCTGGCGCTGGA	0.701													T	19838301	C	T	19838301	2	4	283	1	0	0	0	0	0	0	0	1	7492	796	28	2		2	ID4	6	19838301	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4325081	19838301	151276766	463	145745											
E2F3	1871	broad.mit.edu	37	chr6	20402537	20402537	+	Missense_Mutation	SNP	T	T	C													tggggagggggcggctgtcgTcgccgccgccgctgcagcct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:20402537T>C	uc003nda.2	+	1	401	c.74T>C	c.(73-75)GTC>GCC	p.V25A	E2F3_uc003ncz.2_Missense_Mutation_p.V25A	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	25					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			lung(1)	1	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)			GCGGCTGTCGTCGCCGCCGCC	0.562													C	20402537	T	C	20402537	3	2	283	1	0	0	0	0	1	0	0	0	4868	1667	58	3	76	3	E2F3	6	20402537	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	564236	20402537	150712530	464	145746	772	3									
E2F3	1871	broad.mit.edu	37	chr6	20402541	20402541	+	Silent	SNP	C	C	T													gagggggcggctgtcgtcgcCgccgccgctgcagcctccat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:20402541C>T	uc003nda.2	+	1	405	c.78C>T	c.(76-78)GCC>GCT	p.A26A	E2F3_uc003ncz.2_Silent_p.A26A	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	26	Poly-Ala.				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			lung(1)	1	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)			CTGTCGTCGCCGCCGCCGCTG	0.567													T	20402541	C	T	20402541	2	4	283	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20402541	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4	20402541	150712526	465	145747	772	3									
E2F3	1871	broad.mit.edu	37	chr6	20402547	20402547	+	Silent	SNP	C	C	A													gcggctgtcgtcgccgccgcCgctgcagcctccatggacaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:20402547C>A	uc003nda.2	+	1	411	c.84C>A	c.(82-84)GCC>GCA	p.A28A	E2F3_uc003ncz.2_Silent_p.A28A	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	28	Poly-Ala.				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			lung(1)	1	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)			TCGCCGCCGCCGCTGCAGCCT	0.577													A	20402547	C	A	20402547	2	1	283	1	0	0	0	0	0	0	0	1	4868	639	23	5		5	E2F3	6	20402547	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6	20402547	150712520	466	145748	772	3									
HIST1H1C	3006	broad.mit.edu	37	chr6	26056209	26056211	+	In_Frame_Del	DEL	TCT	TCT	-													cttcggtgttttcttagcgcTcttcttcggagttgcgccgc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26056208_26056210CTCT>C	uc003nfw.3	-	0	490_492	c.447_449AGAG>G	c.(445-450)aagagc>aaGc	p.S150del		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	150					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						TTTCTTAGCGCTCTTCTTCGGAG	0.571													-	26056211	TCT	-	26056209	7	5	283	1	0	1	0	1	0	0	0	0	7124	1551	54	0	197	0	HIST1H1C	6	26056209	In_Frame_Del	DEL	TCT	TCGA-HU-A4H8-01A-11D-A25D-08	5653662	26056209	145058858	467	145749											
HFE	3077	broad.mit.edu	37	chr6	26092988	26092989	+	Frame_Shift_Ins	INS	-	-	C													tgtcgggccttgaactactaINScccccagaacatcaccatga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26092988_26092989insC	uc003nfx.1	+	4	852_853	c.692_693insC	c.(691-693)TACfs	p.Y231fs	HFE_uc003nfy.1_Frame_Shift_Ins_p.Y208fs|HFE_uc010jqe.1_Frame_Shift_Ins_p.Y228fs|HFE_uc003nfz.1_Frame_Shift_Ins_p.Y143fs|HFE_uc003ngd.1_Frame_Shift_Ins_p.Y129fs|HFE_uc003nga.1_Frame_Shift_Ins_p.Y217fs|HFE_uc003ngb.1_Frame_Shift_Ins_p.Y125fs|HFE_uc003ngc.1_Frame_Shift_Ins_p.Y139fs|HFE_uc003nge.1_Frame_Shift_Ins_p.Y51fs|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	hemochromatosis protein isoform 1 precursor	231	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				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				0						TTGAACTACTACCCCCAGAACA	0.515									Hemochromatosis				C	26092989	-	C	26092988	7	5	283	1	0	1	1	0	0	0	0	0	7081	391	14	0	706	0	HFE	6	26092988	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	36779	26092988	145022079	468	145750	773	2									
HFE	3077	broad.mit.edu	37	chr6	26092989	26092990	+	Frame_Shift_Ins	INS	-	-	C													gtcgggccttgaactactacINSccccagaacatcaccatgaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26092988_26092989A>AC	uc003nfx.1	+	3	852_853	c.692_693A>AC	c.(691-693)tacfs	p.Y231fs	HFE_uc003nfy.1_Frame_Shift_Ins_p.Y208fs|HFE_uc010jqe.1_Frame_Shift_Ins_p.Y228fs|HFE_uc003nfz.1_Frame_Shift_Ins_p.Y143fs|HFE_uc003ngd.1_Frame_Shift_Ins_p.Y129fs|HFE_uc003nga.1_Frame_Shift_Ins_p.Y217fs|HFE_uc003ngb.1_Frame_Shift_Ins_p.Y125fs|HFE_uc003ngc.1_Frame_Shift_Ins_p.Y139fs|HFE_uc003nge.1_Frame_Shift_Ins_p.Y51fs|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	231	Alpha-3.|Ig-like C1-type.				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	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|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						TTGAACTACTACCCCCAGAACA	0.515									Hemochromatosis				C	26092990	-	C	26092989	7	5	283	1	0	1	1	0	0	0	0	0	7081	518	18	0	707	0	HFE	6	26092989	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	26092989	145022078	469	145751	773	2									
BTN2A2	10385	broad.mit.edu	37	chr6	26384083	26384083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctgcacttctccctgCcagcctccctcctcctcctc	4	23	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:26384083C>T	uc003nhq.2	+	2	120	c.34C>T	c.(34-36)CCA>TCA	p.P12S	BTN2A2_uc011dkf.1_Missense_Mutation_p.P12S|BTN2A2_uc011dkg.1_Missense_Mutation_p.P12S|BTN2A2_uc003nhr.2_Missense_Mutation_p.P12S|BTN2A2_uc011dkh.1_Missense_Mutation_p.P12S|BTN2A2_uc003nhs.2_Missense_Mutation_p.P12S|BTN2A2_uc003nht.2_Missense_Mutation_p.P12S	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	12					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CTTCTCCCTGCCAGCCTCcct	0.488													T	26384083	C	T	26384083	3	4	283	1	0	0	0	0	1	0	0	0	1561	739	26	2	36	2	BTN2A2	6	26384083	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	291094	26384083	144730984	470	145752											
OR2B6	26212	broad.mit.edu	37	chr6	27925524	27925524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctccagctgccactctGtgacccctatgtgatagatc	8	14	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:27925524G>A	uc011dkx.1	+	1	506	c.506G>A	c.(505-507)TGT>TAT	p.C169Y		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CTGCCACTCTGTGACCCCTAT	0.488													A	27925524	G	A	27925524	3	1	283	1	0	0	0	0	1	0	0	0	10991	1377	48	4	508	4	OR2B6	6	27925524	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1541441	27925524	143189543	471	145753											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213039	28213039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaataagacttctattcCgtgtgaaacttctctcacac	5	11	4	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:28213039C>T	uc003nks.1	-	5	1737	c.1493G>A	c.(1492-1494)CGG>CAG	p.R498Q	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.R343Q	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	498	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ACTTCTATTCCGTGTGAAACT	0.443													T	28213039	C	T	28213039	3	4	283	1	0	0	0	0	1	0	0	0	17686	652	23	1	148	1	ZKSCAN4	6	28213039	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	287515	28213039	142902028	472	145754											
SCAND3	114821	broad.mit.edu	37	chr6	28540480	28540480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagaacttttccccgtgaTaaccaccgtatctcagcatg	7	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:28540480T>C	uc003nlo.2	-	4	3804	c.3186A>G	c.(3184-3186)TTA>TTG	p.L1062L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1062					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ttccccgtgataaccaccgta	0													C	28540480	T	C	28540480	2	2	283	1	0	0	0	0	0	0	0	1	13876	1403	49	3		3	SCAND3	6	28540480	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	327441	28540480	142574587	473	145755											
OR2H2	7932	broad.mit.edu	37	chr6	29556085	29556085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcttttgatcgctacGtggctgtctgccagcccctc	11	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:29556085G>A	uc003nmr.1	+	1	403	c.364G>A	c.(364-366)GTG>ATG	p.V122M	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	122	Cytoplasmic (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGATCGCTACGTGGCTGTCTG	0.577													A	29556085	G	A	29556085	3	1	283	1	0	0	0	0	1	0	0	0	11002	1145	40	1	366	1	OR2H2	6	29556085	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1015605	29556085	141558982	474	145756											
MOG	4340	broad.mit.edu	37	chr6	29638078	29638078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccccactttctgagggtgCcctgctggaagataaccctg	10	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:29638078C>T	uc003nnf.2	+	6	791	c.613C>T	c.(613-615)CCC>TCC	p.P205S	MOG_uc003nmy.1_Missense_Mutation_p.P205S|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.P135S|MOG_uc003nna.2_Missense_Mutation_p.P89S|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.P205S|MOG_uc003nng.2_Intron|MOG_uc003nnh.2_Intron|MOG_uc003nni.2_Intron|MOG_uc003nnj.2_Intron|MOG_uc003nnk.2_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	205	Cytoplasmic (Potential).				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)	1						TCTGAGGGTGCCCTGCTGGAA	0.493													T	29638078	C	T	29638078	3	4	283	1	0	0	0	0	1	0	0	0	9693	739	26	2	771	2	MOG	6	29638078	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	81993	29638078	141476989	475	145757											
HLA-F	3134	broad.mit.edu	37	chr6	29694803	29694804	+	Frame_Shift_Ins	INS	-	-	T													gggtgacatgtggatcttgtINStttttttgtggctgtggaca					rs17875385		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:29694802_29694803G>GT	uc003nno.4	+	6	1303_1304	c.1179_1180G>GT	c.(1177-1182)ttgtttfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					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	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													T	29694804	-	T	29694803	7	5	283	1	0	1	1	0	0	0	0	0	7211	1725	60	0	1215	0	HLA-F	6	29694803	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	56725	29694803	141420264	476	145758											
ZNRD1	30834	broad.mit.edu	37	chr6	30030011	30030011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcccaggttgacaggcGctgccctcgatgtggtcatg	12	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:30030011G>A	uc003noz.2	+	4	407	c.257G>A	c.(256-258)CGC>CAC	p.R86H	NCRNA00171_uc011dme.1_5'Flank|NCRNA00171_uc003nox.1_5'Flank|NCRNA00171_uc003rto.2_5'Flank|ZNRD1_uc003npa.2_Missense_Mutation_p.R86H	NM_014596	NP_055411	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	86	TFIIS-type.					nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding				0						GTTGACAGGCGCTGCCCTCGA	0.542													A	30030011	G	A	30030011	3	1	283	1	0	0	0	0	1	0	0	0	18207	1087	38	1	267	1	ZNRD1	6	30030011	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	335208	30030011	141085056	477	145759											
TRIM26	7726	broad.mit.edu	37	chr6	30153692	30153692	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttcctggccacttgagCcacaggaaggggaccaggcg	15	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:30153692C>T	uc003npr.2	-	9	1790	c.1581G>A	c.(1579-1581)TGG>TGA	p.W527*	TRIM26_uc003nps.2_Nonsense_Mutation_p.W527*|TRIM26_uc010jry.2_Nonsense_Mutation_p.W257*|TRIM26_uc003npt.2_Nonsense_Mutation_p.W527*	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	527	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GCCACTTGAGCCACAGGAAGG	0.577													T	30153692	C	T	30153692	4	4	283	1	0	0	0	0	0	1	0	0	16497	740	26	2	42	2	TRIM26	6	30153692	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	123681	30153692	140961375	478	145760											
HLA-E	3133	broad.mit.edu	37	chr6	30457758	30457758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgctgcgcggctactacaAtcagagcgaggccggtgagt	15	11	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:30457758A>G	uc003nqg.2	+	2	358	c.320A>G	c.(319-321)AAT>AGT	p.N107S	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.N148S	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	107	Alpha-1.|Extracellular (Potential).				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			central_nervous_system(4)|ovary(1)	5						GGCTACTACAATCAGAGCGAG	0.667													G	30457758	A	G	30457758	3	3	283	1	0	0	0	0	1	0	0	0	7210	101	4	3	326	3	HLA-E	6	30457758	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	304066	30457758	140657309	479	145761											
SKIV2L	6499	broad.mit.edu	37	chr6	31928014	31928014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaatggcagaggaagaCggatccctggtctcttttgg	13	8	1	3	rs146717555		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:31928014C>T	uc003nyn.1	+	4	643	c.254C>T	c.(253-255)ACG>ATG	p.T85M	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	85						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CAGAGGAAGACGGATCCCTGG	0.517													T	31928014	C	T	31928014	3	4	283	1	0	0	0	0	1	0	0	0	14359	536	19	1	268	1	SKIV2L	6	31928014	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1470256	31928014	139187053	480	145762											
CYP21A2	1589	broad.mit.edu	37	chr6	32007841	32007841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgctccaaggggtggcGcagccgagcatggaagaggg	17	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32007841G>A	uc003nze.1	+	7	916	c.798G>A	c.(796-798)GCG>GCA	p.A266A	CYP21A2_uc003nzf.1_Silent_p.A236A	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	265					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						AAGGGGTGGCGCAGCCGAGCA	0.637													A	32007841	G	A	32007841	2	1	283	1	0	0	0	0	0	0	0	1	4153	1074	38	1		1	CYP21A2	6	32007841	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	79827	32007841	139107226	481	145763											
TNXB	7148	broad.mit.edu	37	chr6	32017099	32017099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccctcgtggaggccGtacagatgcatcttgtattt	11	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32017099G>A	uc003nzl.2	-	28	9901	c.9699C>T	c.(9697-9699)TAC>TAT	p.Y3233Y	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3280	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CGTGGAGGCCGTACAGATGCA	0.697													A	32017099	G	A	32017099	2	1	283	1	0	0	0	0	0	0	0	1	16343	1140	40	1		1	TNXB	6	32017099	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9258	32017099	139097968	482	145764											
TNXB	7148	broad.mit.edu	37	chr6	32017224	32017224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtactgcacggtgaaggagtCgaagcggccctgggggacgg	19	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32017224C>T	uc003nzl.2	-	28	9776	c.9574G>A	c.(9574-9576)GAC>AAC	p.D3192N	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3239	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTGAAGGAGTCGAAGCGGCCC	0.701													T	32017224	C	T	32017224	3	4	283	1	0	0	0	0	1	0	0	0	16343	884	31	1	5207	1	TNXB	6	32017224	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	125	32017224	139097843	483	145765											
TNXB	7148	broad.mit.edu	37	chr6	32020536	32020536	+	Frame_Shift_Del	DEL	C	C	-													atttgcacccgggctccaggCcccccacggtgacctcgctc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32020536delC	uc003nzl.2	-	26	9222	c.9020delG	c.(9019-9021)GGCfs	p.G3007fs		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3054	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGGCTCCAGGCCCCCCACGGT	0.667													-	32020536	C	-	32020536	7	5	283	1	0	1	0	1	0	0	0	0	16343	739	26	0	5769	0	TNXB	6	32020536	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	3312	32020536	139094531	484	145766											
BRD2	6046	broad.mit.edu	37	chr6	32944465	32944468	+	Frame_Shift_Del	DEL	AGAG	AGAG	-													cacggcttccccctatgcgtAgagagagtggtcgccccatc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:32944464_32944467TAGAG>T	uc010juh.3	+	5	2255_2258	c.951_954TAGAG>T	c.(949-954)cgtagafs	p.R317fs	BRD2_uc003ocn.4_Frame_Shift_Del_p.R317fs|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Frame_Shift_Del_p.R197fs|BRD2_uc003ocq.4_Frame_Shift_Del_p.R317fs|BRD2_uc021ywf.1_Frame_Shift_Del_p.R270fs	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	317					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCCTATGCGTAGAGAGAGTGGTC	0.539													-	32944468	AGAG	-	32944465	7	5	283	1	0	1	0	1	0	0	0	0	1502	412	15	0	974	0	BRD2	6	32944465	Frame_Shift_Del	DEL	AGAG	TCGA-HU-A4H8-01A-11D-A25D-08	923929	32944465	138170602	485	145767											
RGL2	5863	broad.mit.edu	37	chr6	33261421	33261421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgttggccgaagcacccGtggggcaggagggtcactgg	17	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33261421G>A	uc003odv.2	-	14	1697	c.1564C>T	c.(1564-1566)CGG>TGG	p.R522W	RGL2_uc003odu.2_Missense_Mutation_p.R82W|RGL2_uc010jur.2_Missense_Mutation_p.R82W|RGL2_uc003odw.2_Missense_Mutation_p.R440W|RGL2_uc011drb.1_3'UTR	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	522					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						CGAAGCACCCGTGGGGCAGGA	0.572													A	33261421	G	A	33261421	3	1	283	1	0	0	0	0	1	0	0	0	13277	1144	40	1	789	1	RGL2	6	33261421	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	316956	33261421	137853646	486	145768											
PHF1	5252	broad.mit.edu	37	chr6	33383808	33383830	+	Frame_Shift_Del	DEL	CTCGGAGAGTACGGCCTGATGGC	CTCGGAGAGTACGGCCTGATGGC	-													ggaccctgtccgggtccttgCtcggagagtacggcctgatg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33383807_33383829GCTCGGAGAGTACGGCCTGATGGC>G	uc003oeh.3	+	14	1872_1894	c.1636_1658GCTCGGAGAGTACGGCCTGATGGC>G	c.(1636-1659)gctcggagagtacggcctgatggcfs	p.A546fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_3'UTR|PHF1_uc010jux.3_Frame_Shift_Del_p.A346fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	546					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)				CCGGGTCCTTGCTCGGAGAGTACGGCCTGATGGCTCTGTGCAG	0.623													-	33383830	CTCGGAGAGTACGGCCTGATGGC	-	33383808	7	5	283	1	0	1	0	1	0	0	0	0	11820	797	28	0	1691	0	PHF1	6	33383808	Frame_Shift_Del	DEL	CTCGGAGAGTACGGCCTGATGGC	TCGA-HU-A4H8-01A-11D-A25D-08	122387	33383808	137731259	487	145769											
ITPR3	3710	broad.mit.edu	37	chr6	33631649	33631649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcagaaaaccgactctttCgtgccccggtgggtatgcgc	12	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33631649C>T	uc011drk.1	+	11	1359	c.1140C>T	c.(1138-1140)TTC>TTT	p.F380F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	380	Cytoplasmic (Potential).|MIR 5.				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCGACTCTTTCGTGCCCCGGT	0.607													T	33631649	C	T	33631649	2	4	283	1	0	0	0	0	0	0	0	1	7922	883	31	1		1	ITPR3	6	33631649	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	247841	33631649	137483418	488	145770											
ITPR3	3710	broad.mit.edu	37	chr6	33638232	33638232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgccctttgacctgCgcgcctccttctgccacctg	9	17	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33638232C>T	uc011drk.1	+	19	2539	c.2320C>T	c.(2320-2322)CGC>TGC	p.R774C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	774	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CTTTGACCTGCGCGCCTCCTT	0.622													T	33638232	C	T	33638232	3	4	283	1	0	0	0	0	1	0	0	0	7922	768	27	1	2394	1	ITPR3	6	33638232	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6583	33638232	137476835	489	145771											
ITPR3	3710	broad.mit.edu	37	chr6	33641487	33641487	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggcacagcccctgccttCgactctaccagtaagcccct	8	17	1	0	rs146528103	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33641487C>T	uc011drk.1	+	23	3267	c.3048C>T	c.(3046-3048)TTC>TTT	p.F1016F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1016	Cytoplasmic (Potential).				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			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCCCTGCCTTCGACTCTACCA	0.383													T	33641487	C	T	33641487	2	4	283	1	0	0	0	0	0	0	0	1	7922	883	31	1		1	ITPR3	6	33641487	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3255	33641487	137473580	490	145772											
GRM4	2914	broad.mit.edu	37	chr6	33995965	33995965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggaagttgcccttctgcGtgaacttgttggacatggtg	14	9	1	1	rs146041340		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:33995965G>A	uc003oir.3	-	9	2791	c.2621C>T	c.(2620-2622)ACG>ATG	p.T874M	GRM4_uc011dsn.1_Missense_Mutation_p.T827M|GRM4_uc010jvh.2_Missense_Mutation_p.T874M|GRM4_uc010jvi.2_Missense_Mutation_p.T566M|GRM4_uc003oio.2_Missense_Mutation_p.T566M|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.T734M|GRM4_uc003oiq.2_Missense_Mutation_p.T741M|GRM4_uc011dsm.1_Missense_Mutation_p.T705M	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	874	Cytoplasmic (Potential).				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			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GCCCTTCTGCGTGAACTTGTT	0.617													A	33995965	G	A	33995965	3	1	283	1	0	0	0	0	1	0	0	0	6799	1145	40	1	125	1	GRM4	6	33995965	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	354478	33995965	137119102	491	145773											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826124	34826125	+	Frame_Shift_Ins	INS	-	-	T													tttagccttctgcacatgctINSttttttgcatcatgcctttc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:34826123_34826124C>CT	uc003oju.4	+	13	2224_2225	c.1990_1991C>CT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	664								p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCTGCACATGCTTTTTTTGCAT	0.505													T	34826125	-	T	34826124	7	5	283	1	0	1	1	0	0	0	0	0	16965	1609	56	0	2045	0	UHRF1BP1	6	34826124	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	830159	34826124	136288943	492	145774											
RNF8	9025	broad.mit.edu	37	chr6	37328304	37328304	+	Frame_Shift_Del	DEL	T	T	-													gatttctcgaaaccactgtgTtttgaagcagaatcctgagg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:37328304delT	uc003onq.3	+	2	387	c.194delT	c.(193-195)GTTfs	p.V65fs	RNF8_uc003onr.3_Frame_Shift_Del_p.V65fs|RNF8_uc011dtx.1_5'UTR	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	65	FHA.				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			ovary(1)	1						AACCACTGTGTTTTGAAGCAG	0.388													-	37328304	T	-	37328304	7	5	283	1	0	1	0	1	0	0	0	0	13500	1725	60	0	200	0	RNF8	6	37328304	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	2502180	37328304	133786763	493	145775											
CDC5L	988	broad.mit.edu	37	chr6	44374080	44374081	+	Frame_Shift_Ins	INS	-	-	A													gaaaaagaaggaagagatagINSaaaaaaagacaaacagcatt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:44374080_44374081insA	uc003oxl.2	+	7	1038_1039	c.779_780insA	c.(778-780)AGAfs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	260	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			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAGATAGAAAAAAAGACA	0.297													A	44374081	-	A	44374080	7	5	283	1	0	1	1	0	0	0	0	0	3082	942	33	0	805	0	CDC5L	6	44374080	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	7045776	44374080	126740987	494	145776	774	2									
CDC5L	988	broad.mit.edu	37	chr6	44374081	44374082	+	Frame_Shift_Ins	INS	-	-	A													aaaaagaaggaagagatagaINSaaaaaagacaaacagcattt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:44374080_44374081G>GA	uc003oxl.3	+	6	1089_1090	c.779_780G>GA	c.(778-780)agafs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	260	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)			GGAAGAGATAGAAAAAAAGACA	0.297													A	44374082	-	A	44374081	7	5	283	1	0	1	1	0	0	0	0	0	3082	243	9	0	806	0	CDC5L	6	44374081	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	44374081	126740986	495	145777	774	2									
C6orf138	442213	broad.mit.edu	37	chr6	47847178	47847178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaatgagatagaggatgaCaacaaatggcttcacatata	8	5	1	3	rs150590011		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:47847178C>T	uc011dwm.1	-	3	1436	c.1351G>A	c.(1351-1353)GTC>ATC	p.V451I	C6orf138_uc011dwn.1_Missense_Mutation_p.V215I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	468	Helical; (Potential).					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						TAGAGGATGACAACAAATGGC	0.443													T	47847178	C	T	47847178	3	4	283	1	0	0	0	0	1	0	0	0	2332	478	17	4	1142	4	C6orf138	6	47847178	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3473097	47847178	123267889	496	145778											
CRISP1	167	broad.mit.edu	37	chr6	49806157	49806157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacaaacttactgcaaagTttgtcttcacagttacttgg	6	9	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:49806157T>G	uc003ozw.2	-	7	694	c.615A>C	c.(613-615)AAA>AAC	p.K205N	CRISP1_uc003ozx.2_Intron	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	205					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					TACTGCAAAGTTTGTCTTCAC	0.363													G	49806157	T	G	49806157	3	3	283	1	0	0	0	0	1	0	0	0	3879	1722	60	5	142	5	CRISP1	6	49806157	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1958979	49806157	121308910	497	145779											
PKHD1	5314	broad.mit.edu	37	chr6	51613045	51613045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccatgaagacttgaatgCgccacattgtcagaccaaag	10	10	1	4	rs147206007		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:51613045C>T	uc003pah.1	-	58	9645	c.9369G>A	c.(9367-9369)GCG>GCA	p.A3123A	PKHD1_uc010jzn.1_Silent_p.A1106A|PKHD1_uc003pai.2_Silent_p.A3123A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3123	Extracellular (Potential).				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	p.A3123V(1)		lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GACTTGAATGCGCCACATTGT	0.478													T	51613045	C	T	51613045	2	4	283	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51613045	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1806888	51613045	119502022	498	145780											
HMGCLL1	54511	broad.mit.edu	37	chr6	55378846	55378846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggatttcataagtacCctcgtgctggaatattcatg	10	7	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:55378846C>T	uc003pcn.2	-	6	791	c.632G>A	c.(631-633)GGG>GAG	p.G211E	HMGCLL1_uc003pco.2_Missense_Mutation_p.G181E|HMGCLL1_uc010jzx.2_Missense_Mutation_p.G82E|HMGCLL1_uc011dxc.1_Missense_Mutation_p.G149E|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Missense_Mutation_p.G149E	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	211							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCATAAGTACCCTCGTGCTGG	0.299													T	55378846	C	T	55378846	3	4	283	1	0	0	0	0	1	0	0	0	7230	637	22	4	500	4	HMGCLL1	6	55378846	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3765801	55378846	115736221	499	145781											
PHF3	23469	broad.mit.edu	37	chr6	64395813	64395814	+	Splice_Site	DEL	GT	GT	-													aaaaaaccacatggcaacagGtgtgtgtgtatgtgtgtatg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:64395812_64395813GGT>G	uc003pep.1	+	3	2214	c.2189_splice	c.e3+1	p.R730_splice	PHF3_uc010kaf.1_Splice_Site_p.R730_splice|PHF3_uc003pem.2_Splice_Site_p.R683_splice|PHF3_uc010kag.1_Splice_Site_p.R642_splice|PHF3_uc010kah.1_Splice_Site_p.R544_splice|PHF3_uc003pen.2_Splice_Site_p.R642_splice|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Del_p.R730fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	730					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)			CATGGCAACAGGTGTGTGTGTA	0.371													-	64395814	GT	-	64395813	8	5	283	1	0	1	0	1	0	0	1	0	11836	1275	44	0	2200	0	PHF3	6	64395813	Splice_Site	DEL	GT	TCGA-HU-A4H8-01A-11D-A25D-08	9016967	64395813	106719254	500	145782											
PHF3	23469	broad.mit.edu	37	chr6	64423004	64423005	+	Frame_Shift_Ins	INS	-	-	C													atttgccacctccattacttINSccccctccaggctttggctt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:64423004_64423005insC	uc003pep.1	+	15	5546_5547	c.5520_5521insC	c.(5518-5523)CTTCCCfs	p.L1840fs	PHF3_uc003pen.2_Frame_Shift_Ins_p.L1752fs|PHF3_uc011dxs.1_Frame_Shift_Ins_p.L1109fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1840_1841	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	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)			CTCCATTACTTCCCCCTCCAGG	0.515													C	64423005	-	C	64423004	7	5	283	1	0	1	1	0	0	0	0	0	11836	1770	62	0	5578	0	PHF3	6	64423004	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	27191	64423004	106692063	501	145783	775	2									
PHF3	23469	broad.mit.edu	37	chr6	64423005	64423006	+	Frame_Shift_Ins	INS	-	-	C													tttgccacctccattacttcINScccctccaggctttggcttt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:64423004_64423005T>TC	uc003pep.1	+	14	5545_5546	c.5520_5521T>TC	c.(5518-5523)cttcccfs	p.L1840fs	PHF3_uc003pen.2_Frame_Shift_Ins_p.L1752fs|PHF3_uc011dxs.1_Frame_Shift_Ins_p.L1109fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1840	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)			CTCCATTACTTCCCCCTCCAGG	0.515													C	64423006	-	C	64423005	7	5	283	1	0	1	1	0	0	0	0	0	11836	855	30	0	5579	0	PHF3	6	64423005	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	64423005	106692062	502	145784	775	2									
COL9A1	1297	broad.mit.edu	37	chr6	71003924	71003924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacagcaaagccatcAatgtcaattgggcctcttgg	9	13	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:71003924A>G	uc003pfg.3	-	5	801	c.642T>C	c.(640-642)ATT>ATC	p.I214I		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	214	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CAAAGCCATCAATGTCAATTG	0.398													G	71003924	A	G	71003924	2	3	283	1	0	0	0	0	0	0	0	1	3707	126	5	3		3	COL9A1	6	71003924	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	6580919	71003924	100111143	503	145785											
RIMS1	22999	broad.mit.edu	37	chr6	72596775	72596775	+	Frame_Shift_Del	DEL	C	C	-													ctcgcccacccacggtgcctCcccccatgcaagagctgccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:72596774_72596774TC>T	uc003pga.3	+	0	125	c.48_48TC>T	c.(46-48)cctfs	p.P16fs		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	16					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	Rab GTPase binding|metal ion 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)				CCACGGTGCCTCCCCCCATGC	0.637													-	72596775	C	-	72596775	7	5	283	1	0	1	0	1	0	0	0	0	13367	855	30	0	51	0	RIMS1	6	72596775	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	1592851	72596775	98518292	504	145786											
RIMS1	22999	broad.mit.edu	37	chr6	72596851	72596851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcatggcagtgatggaccGgcagaaggaagaggaggaaa	16	5	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:72596851G>A	uc003pga.2	+	1	202	c.125G>A	c.(124-126)CGG>CAG	p.R42Q		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	42	RabBD.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTGATGGACCGGCAGAAGGAA	0.607													A	72596851	G	A	72596851	3	1	283	1	0	0	0	0	1	0	0	0	13367	1116	39	1	127	1	RIMS1	6	72596851	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	76	72596851	98518216	505	145787											
COL12A1	1303	broad.mit.edu	37	chr6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctaaaagaacgatgggttCgctcagaaataactaagtta	8	7	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:75858174C>T	uc003phs.2	-	22	4353	c.4187G>A	c.(4186-4188)CGA>CAA	p.R1396Q	COL12A1_uc003pht.2_Missense_Mutation_p.R232Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1396	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACGATGGGTTCGCTCAGAAAT	0.398													T	75858174	C	T	75858174	3	4	283	1	0	0	0	0	1	0	0	0	3669	884	31	1	5184	1	COL12A1	6	75858174	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3261323	75858174	95256893	506	145788											
ELOVL4	6785	broad.mit.edu	37	chr6	80656946	80656946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaccgtgtcgttgagtgcCgtggacactacgtttaggac	12	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:80656946C>T	uc003pja.3	-	1	370	c.51G>A	c.(49-51)ACG>ACA	p.T17T	ELOVL4_uc011dyt.1_RNA	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	17					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			ovary(1)|skin(1)	2		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)	CGTTGAGTGCCGTGGACACTA	0.657													T	80656946	C	T	80656946	2	4	283	1	0	0	0	0	0	0	0	1	5076	639	23	1		1	ELOVL4	6	80656946	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4798772	80656946	90458121	507	145789											
BCKDHB	594	broad.mit.edu	37	chr6	80878721	80878721	+	Frame_Shift_Del	DEL	T	T	-													attctcagagtcctgaagcaTtttttgcccattgcccagga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:80878720_80878720AT>A	uc003pjd.2	+	4	673	c.606_606AT>A	c.(604-606)gcafs	p.A202fs	BCKDHB_uc003pje.2_Frame_Shift_Del_p.A202fs	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	202					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)		GTCCTGAAGCATTTTTTGCCC	0.398													-	80878721	T	-	80878721	7	5	283	1	0	1	0	1	0	0	0	0	1360	1493	52	0	625	0	BCKDHB	6	80878721	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	221775	80878721	90236346	508	145790											
ANKRD6	22881	broad.mit.edu	37	chr6	90333701	90333701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggcatcggtgttcatcCccacccccaccccatgagtt	7	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:90333701C>T	uc003pni.3	+	12	1484	c.1143C>T	c.(1141-1143)TCC>TCT	p.S381S	ANKRD6_uc003pne.3_Silent_p.S381S|ANKRD6_uc003pnf.3_Silent_p.S346S|ANKRD6_uc011dzy.1_Silent_p.S381S|ANKRD6_uc010kcd.2_Silent_p.S322S|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	381							protein binding			ovary(2)|pancreas(1)	3		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)		GGTGTTCATCCCCACCCCCAC	0.547													T	90333701	C	T	90333701	2	4	283	1	0	0	0	0	0	0	0	1	685	610	22	4		4	ANKRD6	6	90333701	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	9454980	90333701	80781366	509	145791											
FHL5	9457	broad.mit.edu	37	chr6	97052726	97052726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctgccaaggatgagcGcctgctgtgcacggagtgct	14	10	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:97052726G>A	uc003pos.1	+	4	665	c.260G>A	c.(259-261)CGC>CAC	p.R87H	FHL5_uc003pot.1_Missense_Mutation_p.R87H	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	87	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAGGATGAGCGCCTGCTGTGC	0.522													A	97052726	G	A	97052726	3	1	283	1	0	0	0	0	1	0	0	0	5881	1087	38	1	266	1	FHL5	6	97052726	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6719025	97052726	74062341	510	145792											
C6orf167	253714	broad.mit.edu	37	chr6	97627291	97627291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacttacttaccaactgcCtcttccagatttttatctat	2	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:97627291C>A	uc003ppb.2	-	17	2795	c.2529G>T	c.(2527-2529)GAG>GAT	p.E843D	C6orf167_uc011eaf.1_Missense_Mutation_p.E803D	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	843					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		TACCAACTGCCTCTTCCAGAT	0.358													A	97627291	C	A	97627291	3	1	283	1	0	0	0	0	1	0	0	0	2342	680	24	5	1238	5	C6orf167	6	97627291	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	574565	97627291	73487776	511	145793											
SIM1	6492	broad.mit.edu	37	chr6	100896062	100896062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggaaggtgtcgcagccGtgcacatggtggtacagagt	17	7	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:100896062G>A	uc003pqj.3	-	7	1017	c.810C>T	c.(808-810)CAC>CAT	p.H270H	SIM1_uc010kcu.2_Silent_p.H270H	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	270	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		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)		TGTCGCAGCCGTGCACATGGT	0.622													A	100896062	G	A	100896062	2	1	283	1	0	0	0	0	0	0	0	1	14323	1136	40	1		1	SIM1	6	100896062	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3268771	100896062	70219005	512	145794											
GRIK2	2898	broad.mit.edu	37	chr6	102134229	102134229	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggatggatttatgacgGtatgaatacccacttaaaga	10	6	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:102134229G>A	uc003pqp.3	+	6	1200	c.951_splice	c.e6+1	p.T317_splice	GRIK2_uc003pqn.2_Splice_Site_p.T317_splice|GRIK2_uc003pqo.3_Splice_Site_p.T317_splice|GRIK2_uc010kcw.2_Splice_Site_p.T317_splice	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	ATTTATGACGGTATGAATACC	0.378													A	102134229	G	A	102134229	5	1	283	1	0	0	0	0	0	0	1	0	6774	1275	44	4	974	4	GRIK2	6	102134229	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1238167	102134229	68980838	513	145795											
GRIK2	2898	broad.mit.edu	37	chr6	102483233	102483233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaatcaaaaatctccacGtatgacaaaatgtgggcctt	7	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:102483233G>A	uc003pqp.3	+	14	2352	c.2103G>A	c.(2101-2103)ACG>ACA	p.T701T	GRIK2_uc003pqo.3_Silent_p.T701T|GRIK2_uc010kcw.2_Silent_p.T701T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	701	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	AAATCTCCACGTATGACAAAA	0.383													A	102483233	G	A	102483233	2	1	283	1	0	0	0	0	0	0	0	1	6774	1132	40	1		1	GRIK2	6	102483233	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	349004	102483233	68631834	514	145796											
SMPD2	6610	broad.mit.edu	37	chr6	109764884	109764884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcggctggaggagggGccggggaagctgccatactg	19	10	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:109764884G>A	uc003pti.2	+	10	1442	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T	PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	350	Helical; (Potential).				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		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;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGAGGAGGGGCCGGGGAAGC	0.617													A	109764884	G	A	109764884	3	1	283	1	0	0	0	0	1	0	0	0	14805	1203	42	2	1086	2	SMPD2	6	109764884	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7281651	109764884	61350183	515	145797											
C6orf186	728464	broad.mit.edu	37	chr6	110636677	110636677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtattcatgtgattgCatgcaatctgtaaagattgg	10	5	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:110636677C>T	uc010kdu.1	-	3	425	c.425G>A	c.(424-426)TGC>TAC	p.C142Y	C6orf186_uc003pub.2_Intron	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	chromosome 6 open reading frame 186 precursor	142						extracellular region					0						CATGTGATTGCATGCAATCTG	0.408													T	110636677	C	T	110636677	3	4	283	1	0	0	0	0	1	0	0	0	2347	710	25	2	687	2	C6orf186	6	110636677	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	871793	110636677	60478390	516	145798											
REV3L	5980	broad.mit.edu	37	chr6	111694065	111694065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaaatcttcacaggccacGtctacaagttcaccatcagg	6	13	6	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:111694065G>A	uc003puy.3	-	13	5816	c.5493C>T	c.(5491-5493)GAC>GAT	p.D1831D	REV3L_uc003pux.3_Silent_p.D1753D|REV3L_uc003puz.3_Silent_p.D1753D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1831					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		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)		CACAGGCCACGTCTACAAGTT	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	111694065	G	A	111694065	2	1	283	1	0	0	0	0	0	0	0	1	13240	1136	40	1		1	REV3L	6	111694065	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1057388	111694065	59421002	517	145799											
FYN	2534	broad.mit.edu	37	chr6	112015695	112015695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagatctctatggatatAattcatgcgctcgatgtaag	9	8	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:112015695A>G	uc003pvj.2	-	11	1496	c.1156T>C	c.(1156-1158)TAT>CAT	p.Y386H	FYN_uc003pvi.2_Missense_Mutation_p.Y331H|FYN_uc003pvk.2_Missense_Mutation_p.Y386H|FYN_uc003pvh.2_Missense_Mutation_p.Y383H|FYN_uc010kdy.1_Missense_Mutation_p.Y77H	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	386	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			lung(5)|central_nervous_system(1)|skin(1)	7		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)	CTATGGATATAATTCATGCGC	0.458													G	112015695	A	G	112015695	3	3	283	1	0	0	0	0	1	0	0	0	6126	362	13	3	469	3	FYN	6	112015695	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	321630	112015695	59099372	518	145800											
ROS1	6098	broad.mit.edu	37	chr6	117714409	117714409	+	Frame_Shift_Del	DEL	T	T	-													attgtatgaatcagccacaaTtttttgaggtgcactaatag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:117714409delT	uc003pxp.1	-	11	1439	c.1240delA	c.(1240-1242)ATTfs	p.I414fs	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	414	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		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)		TCAGCCACAATTTTTTGAGGT	0.343			T	GOPC|ROS1	glioblastoma|NSCLC								-	117714409	T	-	117714409	7	5	283	1	0	1	0	1	0	0	0	0	13531	1493	52	0	5935	0	ROS1	6	117714409	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	5698714	117714409	53400658	519	145801											
C6orf170	221322	broad.mit.edu	37	chr6	121481252	121481252	+	Splice_Site	DEL	A	A	-													aggatatggattatcactctAaaaaagaagcaagacagatg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:121481251_121481251TA>T	uc003pyo.1	-	24	2748	c.2680_splice	c.e24-1	p.S894_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_Splice_Site|C6orf170_uc003pyp.1_Splice_Site_p.S454_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	894					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATTATCACTCTAAAAAAGAAG	0.318													-	121481252	A	-	121481252	8	5	283	1	0	1	0	1	0	0	1	0	2344	377	13	0		0	C6orf170	6	121481252	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	3766843	121481252	49633815	520	145802											
NKAIN2	154215	broad.mit.edu	37	chr6	124979530	124979530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccctccagattgtcctcGcagtaagtgttggcagccaa	10	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:124979530G>A	uc003pzo.2	+	4	749	c.472G>A	c.(472-474)GCA>ACA	p.A158T	NKAIN2_uc003pzn.1_Missense_Mutation_p.A158T|NKAIN2_uc003pzp.2_Missense_Mutation_p.A157T|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.A68T	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	158	Helical; (Potential).					integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		GATTGTCCTCGCAGTAAGTGT	0.507													A	124979530	G	A	124979530	3	1	283	1	0	0	0	0	1	0	0	0	10436	1087	38	1	486	1	NKAIN2	6	124979530	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3498278	124979530	46135537	521	145803											
NCOA7	135112	broad.mit.edu	37	chr6	126210197	126210197	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctatcaacaaggaaaaaCgacagcagaatggagagaaa	9	6	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:126210197C>T	uc010kes.2	+	11	1446	c.997C>T	c.(997-999)CGA>TGA	p.R333*	NCOA7_uc003qae.3_Nonsense_Mutation_p.R333*|NCOA7_uc003qah.2_Nonsense_Mutation_p.R322*|NCOA7_uc003qai.2_Nonsense_Mutation_p.R333*|NCOA7_uc010ket.2_Nonsense_Mutation_p.R218*	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7 isoform 1	333					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAAGGAAAAACGACAGCAGAA	0.448													T	126210197	C	T	126210197	4	4	283	1	0	0	0	0	0	1	0	0	10234	528	19	1	1027	1	NCOA7	6	126210197	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1230667	126210197	44904870	522	145804											
PTPRK	5796	broad.mit.edu	37	chr6	128404958	128404958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagagattttactggtaCgggaccaggcactacaaaac	10	8	0	2	rs61756668	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:128404958C>T	uc003qbk.2	-	9	1844	c.1477G>A	c.(1477-1479)GTA>ATA	p.V493I	PTPRK_uc003qbj.2_Missense_Mutation_p.V493I|PTPRK_uc010kfc.2_Missense_Mutation_p.V493I|PTPRK_uc011ebu.1_Missense_Mutation_p.V493I|PTPRK_uc003qbl.1_Missense_Mutation_p.V363I|PTPRK_uc011ebv.1_Missense_Mutation_p.V493I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	493	Extracellular (Potential).|Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTTACTGGTACGGGACCAGGC	0.328													T	128404958	C	T	128404958	3	4	283	1	0	0	0	0	1	0	0	0	12805	536	19	1	2955	1	PTPRK	6	128404958	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2194761	128404958	42710109	523	145805											
AHI1	54806	broad.mit.edu	37	chr6	135811814	135811814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagttttttcttttcacGcattagatcactgtgggtct	7	9	5	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:135811814G>A	uc003qgi.2	-	5	466	c.82C>T	c.(82-84)CGT>TGT	p.R28C	AHI1_uc003qgh.2_Missense_Mutation_p.R28C|AHI1_uc003qgj.2_Missense_Mutation_p.R28C|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R28C	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	28	Potential.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCTTTTCACGCATTAGATCA	0.343													A	135811814	G	A	135811814	3	1	283	1	0	0	0	0	1	0	0	0	413	1087	38	1	3665	1	AHI1	6	135811814	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7406856	135811814	35303253	524	145806											
PEX7	5191	broad.mit.edu	37	chr6	137191048	137191048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttgctggtgaccggggcGgttgactgtagtttgagagg	17	5	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:137191048G>A	uc003qhd.2	+	7	756	c.654G>A	c.(652-654)GCG>GCA	p.A218A	PEX7_uc010kgx.2_RNA	NM_000288	NP_000279	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	218	WD 4.		A -> V (in RCDP1).		ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGACCGGGGCGGTTGACTGTA	0.403													A	137191048	G	A	137191048	2	1	283	1	0	0	0	0	0	0	0	1	11751	1103	39	1		1	PEX7	6	137191048	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1379234	137191048	33924019	525	145807											
KIAA1244	57221	broad.mit.edu	37	chr6	138655927	138655927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccctgagcctgaaggccGgtggtggggacctgctgctg	17	11	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:138655927G>A	uc003qhu.2	+	33	5944	c.5944G>A	c.(5944-5946)GGT>AGT	p.G1982S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1982					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTGAAGGCCGGTGGTGGGGA	0.622													A	138655927	G	A	138655927	3	1	283	1	0	0	0	0	1	0	0	0	8217	1116	39	1	6074	1	KIAA1244	6	138655927	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1464879	138655927	32459140	526	145808											
HIVEP2	3097	broad.mit.edu	37	chr6	143094904	143094904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggataatcaaaatcggcacCttcattggacctcccaatga	8	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:143094904C>A	uc003qjd.2	-	5	1715	c.972G>T	c.(970-972)AAG>AAT	p.K324N		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAATCGGCACCTTCATTGGAC	0.453													A	143094904	C	A	143094904	3	1	283	1	0	0	0	0	1	0	0	0	7187	680	24	5	6392	5	HIVEP2	6	143094904	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4438977	143094904	28020163	527	145809											
PEX3	8504	broad.mit.edu	37	chr6	143793296	143793296	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccttttctctgtttctaGtgtttctcttaaacattctt	3	10	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:143793296G>T	uc003qjl.2	+	8	841	c.579_splice	c.e8-1	p.S193_splice	PEX3_uc011edx.1_Splice_Site_p.S193_splice	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3						protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCTGTTTCTAGTGTTTCTCTT	0.333													T	143793296	G	T	143793296	5	4	283	1	0	0	0	0	0	0	1	0	11747	1043	36	5	608	5	PEX3	6	143793296	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	698392	143793296	27321771	528	145810											
PHACTR2	9749	broad.mit.edu	37	chr6	144086414	144086414	+	Frame_Shift_Del	DEL	A	A	-													gtagctggctcctctcattcAaaaaaaacaactggctctaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:144086413_144086413CA>C	uc010khi.3	+	5	909	c.710_710CA>C	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Del_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Del_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Del_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							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)		TCCTCTCATTCAAAAAAAACA	0.398													-	144086414	A	-	144086414	7	5	283	1	0	1	0	1	0	0	0	0	11810	117	5	0	750	0	PHACTR2	6	144086414	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	293118	144086414	27028653	529	145811											
FBXO30	84085	broad.mit.edu	37	chr6	146127127	146127127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttgacatcatggtggCtactttgagggattctaaga	11	6	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:146127127C>T	uc003qla.2	-	2	614	c.415G>A	c.(415-417)GCC>ACC	p.A139T	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	139							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATCATGGTGGCTACTTTGAGG	0.393													T	146127127	C	T	146127127	3	4	283	1	0	0	0	0	1	0	0	0	5740	797	28	2	1830	2	FBXO30	6	146127127	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2040713	146127127	24987940	530	145812											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153303	151153303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcacaaagacctggctgCcatcttggaagagaagaagc	11	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:151153303C>T	uc003qny.1	+	16	3368	c.3056C>T	c.(3055-3057)GCC>GTC	p.A1019V	PLEKHG1_uc011eel.1_Missense_Mutation_p.A1059V|PLEKHG1_uc011eem.1_Missense_Mutation_p.A1078V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A1019V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1019					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GACCTGGCTGCCATCTTGGAA	0.502													T	151153303	C	T	151153303	3	4	283	1	0	0	0	0	1	0	0	0	12068	739	26	2	3110	2	PLEKHG1	6	151153303	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5026176	151153303	19961764	531	145813											
SYNE1	23345	broad.mit.edu	37	chr6	152529216	152529216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatttacgaagcttttctGccatctccctatagcgctgc	6	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:152529216G>A	uc010kiw.2	-	125	23317	c.22715C>T	c.(22714-22716)GCA>GTA	p.A7572V	SYNE1_uc010kiv.2_Missense_Mutation_p.A2096V|SYNE1_uc003qos.3_Missense_Mutation_p.A2096V|SYNE1_uc003qot.3_Missense_Mutation_p.A7501V|SYNE1_uc003qou.3_Missense_Mutation_p.A7572V|SYNE1_uc003qor.3_Missense_Mutation_p.A472V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7572	HAT 11.|Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTTTTCTGCCATCTCCCT	0.532										HNSCC(10;0.0054)			A	152529216	G	A	152529216	3	1	283	1	0	0	0	0	1	0	0	0	15442	1319	46	2	3839	2	SYNE1	6	152529216	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1375913	152529216	18585851	532	145814											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539541	+	Splice_Site	INS	-	-	T													ataatcaagaactccagcctINSttttttccacaaaagaaatt					rs35128811		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:152539539_152539540C>CT	uc021zhb.1	-	119	22268	c.22045_splice	c.e119-1	p.A7349_splice	SYNE1_uc003qos.4_Splice_Site_p.A1873_splice|SYNE1_uc003qot.4_Splice_Site_p.A7278_splice|SYNE1_uc003qou.4_Splice_Site_p.A7349_splice|SYNE1_uc003qor.4_Splice_Site_p.A249_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GAACTCCAGCCTTTTTTTCCAC	0.347										HNSCC(10;0.0054)			T	152539541	-	T	152539540	8	5	283	1	0	1	1	0	0	0	1	0	15442	1623	56	0	4527	0	SYNE1	6	152539540	Splice_Site	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	10324	152539540	18575527	533	145815											
SYNE1	23345	broad.mit.edu	37	chr6	152623082	152623082	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccttccgccagcccctcGacctcggtcaccgtcagcag	9	20	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:152623082G>A	uc010kiw.2	-	92	18065	c.17463C>T	c.(17461-17463)GTC>GTT	p.V5821V	SYNE1_uc010kiv.2_Silent_p.V345V|SYNE1_uc003qos.3_Silent_p.V345V|SYNE1_uc003qot.3_Silent_p.V5750V|SYNE1_uc003qou.3_Silent_p.V5821V|SYNE1_uc010kiy.1_Silent_p.V43V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5821	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGCCCCTCGACCTCGGTCA	0.607										HNSCC(10;0.0054)			A	152623082	G	A	152623082	2	1	283	1	0	0	0	0	0	0	0	1	15442	1045	37	1		1	SYNE1	6	152623082	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	83542	152623082	18491985	534	145816											
ZDHHC14	79683	broad.mit.edu	37	chr6	158049476	158049477	+	Frame_Shift_Del	DEL	AC	AC	-													ttttatctctgtcttttctgAcagtctttatatttgcattc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:158049476_158049477delAC	uc003qqt.2	+	4	1158_1159	c.661_662delAC	c.(661-663)ACAfs	p.T221fs	ZDHHC14_uc003qqs.2_Frame_Shift_Del_p.T221fs|ZDHHC14_uc010kjm.1_Frame_Shift_Del_p.T116fs|ZDHHC14_uc003qqu.1_5'Flank	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	221	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTCTTTTCTGACAGTCTTTATA	0.381													-	158049477	AC	-	158049476	7	5	283	1	0	1	0	1	0	0	0	0	17601	275	10	0	675	0	ZDHHC14	6	158049476	Frame_Shift_Del	DEL	AC	TCGA-HU-A4H8-01A-11D-A25D-08	5426394	158049476	13065591	535	145817											
FNDC1	84624	broad.mit.edu	37	chr6	159654490	159654490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcccctgctcgtccgccCgcagcacggtcacagcagca	11	19	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:159654490C>T	uc010kjv.2	+	11	3146	c.2946C>T	c.(2944-2946)CCC>CCT	p.P982P	FNDC1_uc010kjw.1_Silent_p.P867P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	982						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		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)		CTCGTCCGCCCGCAGCACGGT	0.667													T	159654490	C	T	159654490	2	4	283	1	0	0	0	0	0	0	0	1	5968	639	23	1		1	FNDC1	6	159654490	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1605014	159654490	11460577	536	145818											
IGF2R	3482	broad.mit.edu	37	chr6	160479944	160479944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgacctgcagtttaatGtctgcggcacaatgcctgtc	10	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:160479944G>A	uc003qta.2	+	22	3053	c.2905G>A	c.(2905-2907)GTC>ATC	p.V969I		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	969	7.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCAGTTTAATGTCTGCGGCAC	0.488													A	160479944	G	A	160479944	3	1	283	1	0	0	0	0	1	0	0	0	7576	1377	48	4	2991	4	IGF2R	6	160479944	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	825454	160479944	10635123	537	145819											
SLC22A2	6582	broad.mit.edu	37	chr6	160679772	160679772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatgctccaggacatcGtccacggtggtgggcatgat	12	13	0	1	rs139039970		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:160679772G>A	uc003qtf.2	-	1	188	c.18C>T	c.(16-18)GAC>GAT	p.D6D	SLC22A2_uc003qte.1_Silent_p.D6D|SLC22A2_uc003qth.1_Silent_p.D6D	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	6	Cytoplasmic (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCAGGACATCGTCCACGGTGG	0.617													A	160679772	G	A	160679772	2	1	283	1	0	0	0	0	0	0	0	1	14450	1136	40	1		1	SLC22A2	6	160679772	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	199828	160679772	10435295	538	145820											
QKI	9444	broad.mit.edu	37	chr6	163876309	163876310	+	Splice_Site	DEL	AG	AG	-													ttaaaatttttacttttaacAgaaattagcagagtacggaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:163876309_163876310delAG	uc003qui.2	+	2	694	c.143_splice	c.e2-1	p.E48_splice	QKI_uc003que.2_Splice_Site_p.E48_splice|QKI_uc003quf.2_Splice_Site_p.E48_splice|QKI_uc003qug.2_Splice_Site_p.E48_splice|QKI_uc003quh.2_Splice_Site_p.E48_splice|QKI_uc003quj.2_Splice_Site_p.E48_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		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)		TACTTTTAACAGAAATTAGCAG	0.366													-	163876310	AG	-	163876309	8	5	283	1	0	1	0	1	0	0	1	0	12873	202	7	0	147	0	QKI	6	163876309	Splice_Site	DEL	AG	TCGA-HU-A4H8-01A-11D-A25D-08	3196537	163876309	7238758	539	145821											
MLLT4	4301	broad.mit.edu	37	chr6	168363236	168363236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcgaacaaaacgagacGctgaagaaaaggttatggtc	13	6	0	3	rs150601242	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:168363236G>A	uc003qwd.2	+	31	5108	c.4966G>A	c.(4966-4968)GCT>ACT	p.A1656T	MLLT4_uc003qwc.1_Missense_Mutation_p.A1644T|MLLT4_uc003qwg.1_Missense_Mutation_p.A955T	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1646	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		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)		AAAACGAGACGCTGAAGAAAA	0.552			T	MLL	AL								A	168363236	G	A	168363236	3	1	283	1	0	0	0	0	1	0	0	0	9629	1087	38	1	5166	1	MLLT4	6	168363236	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4486927	168363236	2751831	540	145822											
WDR27	253769	broad.mit.edu	37	chr6	170089045	170089045	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccaggtatttttctatAactatatcacttagacagcc	4	10	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr6:170089045A>T	uc003qwx.2	-	2	577	c.57T>A	c.(55-57)GTT>GTA	p.V19V	WDR27_uc010kkw.1_Silent_p.V19V|WDR27_uc003qwy.2_Silent_p.V19V|WDR27_uc011egw.1_RNA|WDR27_uc010kkx.2_Silent_p.V19V			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	19										pancreas(1)	1		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)		ATTTTTCTATAACTATATCAC	0.383													T	170089045	A	T	170089045	2	4	283	1	0	0	0	0	0	0	0	1	17281	349	13	5		5	WDR27	6	170089045	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1725809	170089045	1026022	541	145823											
INTS1	26173	broad.mit.edu	37	chr7	1510813	1510813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccaggctgaaggcgagGttgcggcaacactcctcggc	16	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:1510813G>A	uc003skn.2	-	46	6404	c.6303C>T	c.(6301-6303)AAC>AAT	p.N2101N	INTS1_uc003skm.1_Silent_p.N238N	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2101					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGAAGGCGAGGTTGCGGCAAC	0.687													A	1510813	G	A	1510813	2	1	283	1	0	0	0	0	0	0	0	1	7775	1252	44	4		4	INTS1	7	1510813	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08		1510813	157627850	542	145824											
INTS1	26173	broad.mit.edu	37	chr7	1535864	1535864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcccagcatcatggacaCggccaggacgtcggtgatgt	14	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:1535864C>T	uc003skn.2	-	12	1740	c.1639G>A	c.(1639-1641)GTG>ATG	p.V547M	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	547					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCATGGACACGGCCAGGACG	0.642													T	1535864	C	T	1535864	3	4	283	1	0	0	0	0	1	0	0	0	7775	536	19	1	5081	1	INTS1	7	1535864	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	25051	1535864	157602799	543	145825											
SDK1	221935	broad.mit.edu	37	chr7	4056923	4056923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagatacaggtggcggcGtacaacggggccggtctggg	18	8	1	1	rs144372494		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:4056923G>A	uc003smx.2	+	17	2680	c.2541G>A	c.(2539-2541)GCG>GCA	p.A847A	SDK1_uc010kso.2_Silent_p.A123A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	847	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		AGGTGGCGGCGTACAACGGGG	0.587													A	4056923	G	A	4056923	2	1	283	1	0	0	0	0	0	0	0	1	13968	1132	40	1		1	SDK1	7	4056923	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2521059	4056923	155081740	544	145826											
TNRC18	84629	broad.mit.edu	37	chr7	5427872	5427872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggctgtggtggtgctgcGcggccagcacggccatctgc	17	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:5427872G>A	uc003soi.3	-	5	1932	c.1583C>T	c.(1582-1584)GCG>GTG	p.A528V	TNRC18_uc010ksx.1_Missense_Mutation_p.A454V	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	528							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGGTGCTGCGCGGCCAGCAC	0.721													A	5427872	G	A	5427872	3	1	283	1	0	0	0	0	1	0	0	0	16336	1087	38	1	7427	1	TNRC18	7	5427872	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1370949	5427872	153710791	545	145827											
RNF216	54476	broad.mit.edu	37	chr7	5662686	5662686	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggggaagggtgggtgcgcGaaggcatagggtggcatctg	22	5	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:5662686G>A	uc003soy.1	-	17	2596	c.2406C>T	c.(2404-2406)TTC>TTT	p.F802F	RNF216_uc010ksz.1_Silent_p.F424F|RNF216_uc010kta.1_Silent_p.F424F|RNF216_uc011jwj.1_Silent_p.F424F|RNF216_uc003sox.1_Silent_p.F859F	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	802	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTGGGTGCGCGAAGGCATAGG	0.667													A	5662686	G	A	5662686	2	1	283	1	0	0	0	0	0	0	0	1	13480	1049	37	1		1	RNF216	7	5662686	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	234814	5662686	153475977	546	145828											
DAGLB	221955	broad.mit.edu	37	chr7	6449906	6449906	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggctctgctcccccagaaGaggctgtgtcaggacttcct	11	13	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:6449906G>T	uc003sqa.2	-	14	1845	c.1675C>A	c.(1675-1677)CTT>ATT	p.L559I	DAGLB_uc003spy.2_Missense_Mutation_p.L105I|DAGLB_uc003spz.2_Missense_Mutation_p.L256I|DAGLB_uc011jwt.1_Missense_Mutation_p.L373I|DAGLB_uc011jwu.1_Missense_Mutation_p.L430I|DAGLB_uc003sqb.2_Missense_Mutation_p.L278I|DAGLB_uc003sqc.2_Missense_Mutation_p.L278I|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.L518I	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	559	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCCCCAGAAGAGGCTGTGTC	0.612													T	6449906	G	T	6449906	3	4	283	1	0	0	0	0	1	0	0	0	4227	942	33	5	351	5	DAGLB	7	6449906	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	787220	6449906	152688757	547	145829											
COL28A1	340267	broad.mit.edu	37	chr7	7493103	7493103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagccctgtcctgcgggccCttgtggaccaggtggaccaa	13	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:7493103C>A	uc003src.1	-	17	1525	c.1408G>T	c.(1408-1410)GGG>TGG	p.G470W	COL28A1_uc011jxe.1_Missense_Mutation_p.G153W|COL28A1_uc003srd.2_Missense_Mutation_p.G25W	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	470					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGCGGGCCCTTGTGGACCA	0.383													A	7493103	C	A	7493103	3	1	283	1	0	0	0	0	1	0	0	0	3686	681	24	5	2045	5	COL28A1	7	7493103	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1043197	7493103	151645560	548	145830											
HOXA5	3202	broad.mit.edu	37	chr7	27181657	27181657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccagggtctggtagcGcgtgtaggccgtccgggccc	16	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:27181657G>A	uc003syn.1	-	2	671	c.610C>T	c.(610-612)CGC>TGC	p.R204C		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	204	Homeobox.				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				0						GTCTGGTAGCGCGTGTAGGCC	0.557											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	27181657	G	A	27181657	3	1	283	1	0	0	0	0	1	0	0	0	7295	1087	38	1	206	1	HOXA5	7	27181657	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	19688554	27181657	131957006	549	145831											
CHN2	1124	broad.mit.edu	37	chr7	29438071	29438071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccttagagaaagccagCggcaaccaggatgctacacg	10	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:29438071C>T	uc003szz.2	+	5	696	c.259C>T	c.(259-261)CGG>TGG	p.R87W	CHN2_uc011jzs.1_Missense_Mutation_p.R162W|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.R52W|CHN2_uc011jzt.1_Missense_Mutation_p.R100W|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.R72W	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	87	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						AGAAAGCCAGCGGCAACCAGG	0.507													T	29438071	C	T	29438071	3	4	283	1	0	0	0	0	1	0	0	0	3363	759	27	1	277	1	CHN2	7	29438071	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2256414	29438071	129700592	550	145832											
INMT	11185	broad.mit.edu	37	chr7	30795440	30795440	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaatggggtctgcttcatTgtggctcgcaagaagcctgg	13	9	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:30795440T>C	uc003tbs.1	+	3	781	c.765T>C	c.(763-765)ATT>ATC	p.I255I	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.I254I	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	255						cytoplasm	amine N-methyltransferase activity				0						TCTGCTTCATTGTGGCTCGCA	0.512													C	30795440	T	C	30795440	2	2	283	1	0	0	0	0	0	0	0	1	7745	1800	63	3		3	INMT	7	30795440	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1357369	30795440	128343223	551	145833											
NEUROD6	63974	broad.mit.edu	37	chr7	31377947	31377947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaagtcgtaagggaagtgGctgtcggtgggcaacctgaa	16	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:31377947G>A	uc003tch.2	-	2	1289	c.936C>T	c.(934-936)AGC>AGT	p.S312S		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	312					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						AAGGGAAGTGGCTGTCGGTGG	0.448													A	31377947	G	A	31377947	2	1	283	1	0	0	0	0	0	0	0	1	10351	1194	42	2		2	NEUROD6	7	31377947	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	582507	31377947	127760716	552	145834											
CCDC129	223075	broad.mit.edu	37	chr7	31682655	31682655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaggtcaccagacccacAgccacttccaaatatgatca	6	13	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:31682655A>G	uc003tcj.1	+	11	2664	c.1671A>G	c.(1669-1671)ACA>ACG	p.T557T	CCDC129_uc011kad.1_Silent_p.T567T|CCDC129_uc003tci.1_Silent_p.T408T|CCDC129_uc011kae.1_Silent_p.T583T|CCDC129_uc003tck.1_Silent_p.T465T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	557											0						CCAGACCCACAGCCACTTCCA	0.532													G	31682655	A	G	31682655	2	3	283	1	0	0	0	0	0	0	0	1	2764	175	7	3		3	CCDC129	7	31682655	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	304708	31682655	127456008	553	145835											
KBTBD2	25948	broad.mit.edu	37	chr7	32909836	32909836	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttactgtgatttgtTtttgtgtttttcagaggaac	9	4	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:32909836T>G	uc003tdb.2	-	4	1652	c.993A>C	c.(991-993)AAA>AAC	p.K331N	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	331	Kelch 1.										0			GBM - Glioblastoma multiforme(11;0.0499)			TGTGATTTGTTTTTGTGTTTT	0.408													G	32909836	T	G	32909836	3	3	283	1	0	0	0	0	1	0	0	0	7993	1838	64	5	882	5	KBTBD2	7	32909836	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1227181	32909836	126228827	554	145836											
NPSR1	387129	broad.mit.edu	37	chr7	34917755	34917755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacgagagaactggaagGgtacttggccaggtgtacct	13	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:34917755G>T	uc003tei.1	+	9	1221	c.1093G>T	c.(1093-1095)GGT>TGT	p.G365C	NPSR1_uc010kww.1_Missense_Mutation_p.G354C|NPSR1_uc011kar.1_Missense_Mutation_p.G299C	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	Error:Variant_position_missing_in_Q6W5P4_after_alignment						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	GAACTGGAAGGGTACTTGGCC	0.557													T	34917755	G	T	34917755	3	4	283	1	0	0	0	0	1	0	0	0	10600	1232	43	5	1222	5	NPSR1	7	34917755	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2007919	34917755	124220908	555	145837											
ARPP21	10777	broad.mit.edu	37	chr7	38313227	38313227	+	Frame_Shift_Del	DEL	T	T	-													tccgggaccaaataccttgaTttttttgcccaactcttgcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:38313226_38313226AT>A	uc003tge.1	-	3	766	c.389_389AT>T	c.(388-390)atcfs	p.I130fs	ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_Intron|ARPP21_uc010kxi.1_Intron|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						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						AAATACCTTGATTTTTTTGCC	0.393													-	38313227	T	-	38313227	7	5	283	1	0	1	0	1	0	0	0	0	978	1508	52	0		0	ARPP21	7	38313227	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	3395472	38313227	120825436	556	145838											
CDK13	8621	broad.mit.edu	37	chr7	40118358	40118358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacttatttgattacatgctTgccttggatcctagtaagcg	9	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:40118358T>C	uc003thh.3	+	11	3219	c.2937T>C	c.(2935-2937)CTT>CTC	p.L979L	CDK13_uc003thi.3_Silent_p.L979L|CDK13_uc003thj.2_Silent_p.L30L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	979	Protein kinase.				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			lung(2)|skin(2)|ovary(1)	5						ATTACATGCTTGCCTTGGATC	0.443													C	40118358	T	C	40118358	2	2	283	1	0	0	0	0	0	0	0	1	3129	1799	63	3		3	CDK13	7	40118358	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1805131	40118358	119020305	557	145839											
NPC1L1	29881	broad.mit.edu	37	chr7	44556854	44556854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccaggcactttccgcAggtcagcagtgatgttggct	12	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:44556854A>G	uc003tlb.2	-	16	3376	c.3320T>C	c.(3319-3321)CTG>CCG	p.L1107P	NPC1L1_uc003tlc.2_Missense_Mutation_p.L1080P|NPC1L1_uc011kbw.1_Missense_Mutation_p.L1034P|NPC1L1_uc003tla.2_Missense_Mutation_p.L83P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1107	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CACTTTCCGCAGGTCAGCAGT	0.577													G	44556854	A	G	44556854	3	3	283	1	0	0	0	0	1	0	0	0	10571	188	7	3	779	3	NPC1L1	7	44556854	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	4438496	44556854	114581809	558	145840											
NPC1L1	29881	broad.mit.edu	37	chr7	44573082	44573082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaggctgacatctgcAggaggaagtcaaggatcact	11	10	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:44573082A>G	uc003tlb.2	-	8	2413	c.2357T>C	c.(2356-2358)CTG>CCG	p.L786P	NPC1L1_uc003tlc.2_Missense_Mutation_p.L786P|NPC1L1_uc011kbw.1_Missense_Mutation_p.L786P|NPC1L1_uc003tld.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	786	Helical; Name=7; (Potential).|SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TGACATCTGCAGGAGGAAGTC	0.642													G	44573082	A	G	44573082	3	3	283	1	0	0	0	0	1	0	0	0	10571	188	7	3	1774	3	NPC1L1	7	44573082	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	16228	44573082	114565581	559	145841											
VSTM2A	222008	broad.mit.edu	37	chr7	54617746	54617746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcaggatatgaagcccCgcaagaacgtctccgcagcc	12	14	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:54617746C>T	uc010kzf.2	+	4	922	c.517C>T	c.(517-519)CGC>TGC	p.R173C	VSTM2A_uc010kze.2_Missense_Mutation_p.R173C|VSTM2A_uc003tqc.3_Missense_Mutation_p.R173C	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	173						extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)			TATGAAGCCCCGCAAGAACGT	0.587													T	54617746	C	T	54617746	3	4	283	1	0	0	0	0	1	0	0	0	17226	652	23	1	531	1	VSTM2A	7	54617746	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10044664	54617746	104520917	560	145842											
PCLO	27445	broad.mit.edu	37	chr7	82430834	82430834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgtaaatttttacttacCttcagtgtctgctagtccta	5	8	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:82430834C>T	uc003uhx.2	-	22	15296	c.15007G>A	c.(15007-15009)GCT>ACT	p.A5003T		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4926					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTTTACTTACCTTCAGTGTCT	0.333													T	82430834	C	T	82430834	3	4	283	1	0	0	0	0	1	0	0	0	11583	695	24	4	437	4	PCLO	7	82430834	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	27813088	82430834	76707829	561	145843											
CROT	54677	broad.mit.edu	37	chr7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-													ccttcacttgaagaatcattAaaaaaataccttgaatcagg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:86978479_86978479TA>T	uc003uiu.3	+	2	340	c.95_95TA>T	c.(94-96)ttafs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uit.3_Frame_Shift_Del_p.L32fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAGAATCATTAAAAAAATAC	0.318													-	86978480	A	-	86978480	7	5	283	1	0	1	0	1	0	0	0	0	3894	359	13	0	98	0	CROT	7	86978480	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	4547646	86978480	72160183	562	145844											
AKAP9	10142	broad.mit.edu	37	chr7	91726523	91726523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtggaagatcttcagcGccagctggaagagaaaagac	12	8	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:91726523G>A	uc003ulg.2	+	41	10475	c.10250G>A	c.(10249-10251)CGC>CAC	p.R3417H	AKAP9_uc003ulf.2_Missense_Mutation_p.R3409H|AKAP9_uc003uli.2_Missense_Mutation_p.R3040H|AKAP9_uc003ulj.2_Missense_Mutation_p.R1187H|AKAP9_uc003ull.2_Missense_Mutation_p.R313H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3421	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)			GATCTTCAGCGCCAGCTGGAA	0.458			T	BRAF	papillary thyroid								A	91726523	G	A	91726523	3	1	283	1	0	0	0	0	1	0	0	0	459	1087	38	1	10412	1	AKAP9	7	91726523	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4748043	91726523	67412140	563	145845											
TFPI2	7980	broad.mit.edu	37	chr7	93518426	93518426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttccggtgacacccaccGgaaaagaatttttcacatgt	9	11	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:93518426G>A	uc003umy.1	-	3	456	c.381C>T	c.(379-381)TCC>TCT	p.S127S	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.S127S|TFPI2_uc003una.1_Silent_p.S116S|TFPI2_uc003unb.1_Silent_p.S127S|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	127	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GACACCCACCGGAAAAGAATT	0.438													A	93518426	G	A	93518426	2	1	283	1	0	0	0	0	0	0	0	1	15806	1103	39	1		1	TFPI2	7	93518426	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1791903	93518426	65620237	564	145846											
ASB4	51666	broad.mit.edu	37	chr7	95157219	95157219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagctggtggccttctaCgtggaacacggggccatagt	15	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:95157219C>T	uc011kij.1	+	3	582	c.582C>T	c.(580-582)TAC>TAT	p.Y194Y	ASB4_uc003unx.2_Silent_p.Y194Y	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	194	ANK 4.				intracellular signal transduction					central_nervous_system(1)	1	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)			TGGCCTTCTACGTGGAACACG	0.592											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	95157219	C	T	95157219	2	4	283	1	0	0	0	0	0	0	0	1	1025	547	19	1		1	ASB4	7	95157219	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1638793	95157219	63981444	565	145847											
DLX6	1750	broad.mit.edu	37	chr7	96639257	96639257	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggacgtttctgcctcGgccaagggtgtcagtatgcc	14	11	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:96639257G>T	uc003uom.2	+	4	696	c.696G>T	c.(694-696)TCG>TCT	p.S232S	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	142					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	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)					TTTCTGCCTCGGCCAAGGGTG	0.617													T	96639257	G	T	96639257	2	4	283	1	0	0	0	0	0	0	0	1	4575	1103	39	5		5	DLX6	7	96639257	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1482038	96639257	62499406	566	145848											
TRRAP	8295	broad.mit.edu	37	chr7	98608683	98608683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtttcaggtcctccgCgacatcctcaaggaggttca	11	12	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:98608683C>T	uc003upp.2	+	70	11114	c.10905C>T	c.(10903-10905)CGC>CGT	p.R3635R	TRRAP_uc011kis.1_Silent_p.R3606R|TRRAP_uc003upr.2_Silent_p.R3341R|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3635	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			AGGTCCTCCGCGACATCCTCA	0.502													T	98608683	C	T	98608683	2	4	283	1	0	0	0	0	0	0	0	1	16598	755	27	1		1	TRRAP	7	98608683	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1969426	98608683	60529980	567	145849											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-													cgagaagttatagacttagaCcccccagctgagacttccca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99103706delC	uc003uqv.2	+	2	163	c.39delC	c.(37-39)GACfs	p.D13fs	ZKSCAN5_uc010lfx.2_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqw.2_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqx.2_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	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)					TAGACTTAGACCCCCCAGCTG	0.483													-	99103706	C	-	99103706	7	5	283	1	0	1	0	1	0	0	0	0	17687	506	18	0	41	0	ZKSCAN5	7	99103706	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	495023	99103706	60034957	568	145850											
C7orf43	55262	broad.mit.edu	37	chr7	99754484	99754484	+	Frame_Shift_Del	DEL	G	G	-													tcacctccttggcccctggaGggggctgctcaccccctctc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99754484delG	uc003utr.2	-	6	1157	c.977delC	c.(976-978)CCTfs	p.P326fs	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Frame_Shift_Del_p.P94fs|C7orf43_uc003uts.2_Frame_Shift_Del_p.P57fs	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	326											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCCCTGGAGGGGGCTGCTC	0.597													-	99754484	G	-	99754484	7	5	283	1	0	1	0	1	0	0	0	0	2393	1000	35	0	789	0	C7orf43	7	99754484	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	650778	99754484	59384179	569	145851											
GPC2	221914	broad.mit.edu	37	chr7	99769525	99769525	+	Frame_Shift_Del	DEL	G	G	-													ttgcgggcaggcaccgggtcGggggggccgcactcctgaaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99769525delG	uc003utv.2	-	7	1215	c.1047delC	c.(1045-1047)CCCfs	p.P349fs	GPC2_uc010lgr.2_RNA	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	349						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P349T(1)		breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCGGGTCGGGGGGGCCGC	0.721													-	99769525	G	-	99769525	7	5	283	1	0	1	0	1	0	0	0	0	6598	1103	39	0	708	0	GPC2	7	99769525	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	15041	99769525	59369138	570	145852											
PVRIG	79037	broad.mit.edu	37	chr7	99818409	99818409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaggctccagccgtcccGcaccagcccccaggcaccga	9	22	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99818409G>A	uc003uue.2	+	6	995	c.623G>A	c.(622-624)CGC>CAC	p.R208H	GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.R208H	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin	208						integral to membrane				skin(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCGTCCCGCACCAGCCCC	0.697													A	99818409	G	A	99818409	3	1	283	1	0	0	0	0	1	0	0	0	12838	1087	38	1	637	1	PVRIG	7	99818409	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	48884	99818409	59320254	571	145853											
GATS	352954	broad.mit.edu	37	chr7	99821311	99821311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgacaaagggcaggtccCgcttgagcacctaggggcaa	16	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:99821311C>T	uc003uua.3	-	4	671	c.422G>A	c.(421-423)CGG>CAG	p.R141Q	GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	141											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCAGGTCCCGCTTGAGCAC	0.602													T	99821311	C	T	99821311	3	4	283	1	0	0	0	0	1	0	0	0	6264	652	23	1	73	1	GATS	7	99821311	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2902	99821311	59317352	572	145854											
GIGYF1	64599	broad.mit.edu	37	chr7	100280373	100280373	+	Frame_Shift_Del	DEL	G	G	-													ctcagacacccactggttcaGgggggcagtgcccaggcccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:100280373delG	uc003uwg.1	-	20	3449	c.2440delC	c.(2440-2442)CTGfs	p.L814fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	814										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CACTGGTTCAGGGGGGCAGTG	0.647													-	100280373	G	-	100280373	7	5	283	1	0	1	0	1	0	0	0	0	6377	991	35	0	687	0	GIGYF1	7	100280373	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	459062	100280373	58858290	573	145855											
SLC12A9	56996	broad.mit.edu	37	chr7	100456716	100456716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatccctctgggcacgatcGtcgccgtcgcctacaccttc	9	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:100456716G>A	uc003uwp.2	+	7	1052	c.910G>A	c.(910-912)GTC>ATC	p.V304I	SLC12A9_uc003uwq.2_Missense_Mutation_p.V215I|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Missense_Mutation_p.V40I|SLC12A9_uc003uws.2_Intron|SLC12A9_uc003uwt.2_Missense_Mutation_p.V40I|SLC12A9_uc003uwv.2_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	304	Helical; (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCACGATCGTCGCCGTCGC	0.627													A	100456716	G	A	100456716	3	1	283	1	0	0	0	0	1	0	0	0	14390	1145	40	1	932	1	SLC12A9	7	100456716	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	176343	100456716	58681947	574	145856											
CUX1	1523	broad.mit.edu	37	chr7	101839974	101839975	+	Frame_Shift_Ins	INS	-	-	C													cgcccgggatctttgccggcINScccccctccttctcagttgc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:101839973_101839974G>GC	uc003uys.4	+	14	1442_1443	c.1315_1316G>GC	c.(1315-1317)gccfs	p.A439fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		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						ATCTTTGCCGGCCCCCCCTCCT	0.564													C	101839975	-	C	101839974	7	5	283	1	0	1	1	0	0	0	0	0	4064	739	26	0	1408	0	CUX1	7	101839974	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1383258	101839974	57298689	575	145857											
SH2B2	10603	broad.mit.edu	37	chr7	101944461	101944461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtggccgacgacgcggcCgcgggctccgggggctcggc	20	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:101944461C>T	uc011kko.1	+	2	801	c.756C>T	c.(754-756)GCC>GCT	p.A252A		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	209	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				0						ACGACGCGGCCGCGGGCTCCG	0.721													T	101944461	C	T	101944461	2	4	283	1	0	0	0	0	0	0	0	1	14228	639	23	1		1	SH2B2	7	101944461	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	104487	101944461	57194202	576	145858											
ORAI2	80228	broad.mit.edu	37	chr7	102087007	102087007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagtaccagtacccgcgGccgctgctgattgccttcag	11	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:102087007G>A	uc010lhz.1	+	4	508	c.273G>A	c.(271-273)CGG>CGA	p.R91R	ORAI2_uc003uzj.2_Silent_p.R91R|ORAI2_uc003uzk.2_Silent_p.R91R|ORAI2_uc011kks.1_Silent_p.R14R	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	91						integral to membrane	protein binding			ovary(1)|kidney(1)	2						AGTACCCGCGGCCGCTGCTGA	0.662													A	102087007	G	A	102087007	2	1	283	1	0	0	0	0	0	0	0	1	11258	1190	42	2		2	ORAI2	7	102087007	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	142546	102087007	57051656	577	145859											
SRPK2	6733	broad.mit.edu	37	chr7	104783701	104783701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttctatctcctgcaggCgcttctccaataactcagcc	5	15	5	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:104783701C>T	uc003vct.2	-	9	1044	c.857G>A	c.(856-858)CGC>CAC	p.R286H	SRPK2_uc003vcu.2_Missense_Mutation_p.R286H|SRPK2_uc003vcv.2_Missense_Mutation_p.R297H|SRPK2_uc003vcw.1_Missense_Mutation_p.R286H	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	286	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTCCTGCAGGCGCTTCTCCAA	0.398													T	104783701	C	T	104783701	3	4	283	1	0	0	0	0	1	0	0	0	15159	768	27	1	1237	1	SRPK2	7	104783701	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2696694	104783701	54354962	578	145860											
PUS7	54517	broad.mit.edu	37	chr7	105148680	105148680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actctctgattcctcctcctCgcactcctctgaaagtccat	4	17	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:105148680C>T	uc003vcx.2	-	2	499	c.280G>A	c.(280-282)GAG>AAG	p.E94K	PUS7_uc010lji.2_Missense_Mutation_p.E94K|PUS7_uc003vcy.2_Missense_Mutation_p.E94K|PUS7_uc003vcz.1_Missense_Mutation_p.E94K	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	94					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						TCCTCCTCCTCGCACTCCTCT	0.493													T	105148680	C	T	105148680	3	4	283	1	0	0	0	0	1	0	0	0	12833	893	31	1	1765	1	PUS7	7	105148680	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	364979	105148680	53989983	579	145861											
LAMB1	3912	broad.mit.edu	37	chr7	107621183	107621183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctctgatttccatcctGgaatccagaaggttatctcc	6	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:107621183G>A	uc003vew.2	-	8	1085	c.750C>T	c.(748-750)TCC>TCT	p.S250S	LAMB1_uc003vev.2_Silent_p.S274S|LAMB1_uc003vex.2_Silent_p.S250S|LAMB1_uc010ljn.1_Silent_p.S336S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	250	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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCCATCCTGGAATCCAGAA	0.383													A	107621183	G	A	107621183	2	1	283	1	0	0	0	0	0	0	0	1	8610	1335	47	4		4	LAMB1	7	107621183	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2472503	107621183	51517480	580	145862											
DOCK4	9732	broad.mit.edu	37	chr7	111430583	111430583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattggaatcatgacattcCgaagatctggctggggtatc	11	7	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:111430583C>T	uc003vfx.2	-	31	3514	c.3245G>A	c.(3244-3246)CGG>CAG	p.R1082Q	DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Missense_Mutation_p.R523Q|DOCK4_uc003vfy.2_Missense_Mutation_p.R1118Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1082					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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CATGACATTCCGAAGATCTGG	0.458													T	111430583	C	T	111430583	3	4	283	1	0	0	0	0	1	0	0	0	4689	652	23	1	2743	1	DOCK4	7	111430583	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3809400	111430583	47708080	581	145863											
TES	26136	broad.mit.edu	37	chr7	115892010	115892010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgacagcgagaaaccccGatgtgctggctgtgacgagg	15	10	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:115892010G>A	uc003vho.2	+	5	1080	c.899G>A	c.(898-900)CGA>CAA	p.R300Q	TES_uc011kmy.1_Missense_Mutation_p.R58Q|TES_uc003vhp.2_Missense_Mutation_p.R291Q|uc003vhq.1_5'Flank	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	testin isoform 1	300	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGAAACCCCGATGTGCTGGC	0.493													A	115892010	G	A	115892010	3	1	283	1	0	0	0	0	1	0	0	0	15762	1058	37	1	917	1	TES	7	115892010	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4461427	115892010	43246653	582	145864											
RNF148	378925	broad.mit.edu	37	chr7	122342061	122342061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatttaggtctaattcctcAtccccttctttgagaactcg	5	12	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:122342061A>G	uc003vkk.1	-	1	961	c.744T>C	c.(742-744)GAT>GAC	p.D248D	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	248						integral to membrane	zinc ion binding				0						CTAATTCCTCATCCCCTTCTT	0.398													G	122342061	A	G	122342061	2	3	283	1	0	0	0	0	0	0	0	1	13449	214	8	3		3	RNF148	7	122342061	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	6450051	122342061	36796602	583	145865											
CCDC136	64753	broad.mit.edu	37	chr7	128445885	128445885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaggaggagcagaggcGgctgcagagggagctcaagt	19	7	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:128445885G>A	uc003vnv.1	+	7	1386	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	CCDC136_uc003vnu.1_Missense_Mutation_p.R378Q|CCDC136_uc003vnw.1_Missense_Mutation_p.R340Q|CCDC136_uc003vnx.1_Missense_Mutation_p.R156Q|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	340						integral to membrane	protein binding			ovary(2)	2						GAGCAGAGGCGGCTGCAGAGG	0.557													A	128445885	G	A	128445885	3	1	283	1	0	0	0	0	1	0	0	0	2770	1116	39	1	1045	1	CCDC136	7	128445885	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6103824	128445885	30692778	584	145866											
LRGUK	136332	broad.mit.edu	37	chr7	133884088	133884088	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattattcagtcgtgcagaAattgaatttgctgtctccag	10	7	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:133884088A>G	uc003vrm.1	+	14	1678	c.1662A>G	c.(1660-1662)GAA>GAG	p.E554E		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	554	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GTCGTGCAGAAATTGAATTTG	0.363													G	133884088	A	G	133884088	2	3	283	1	0	0	0	0	0	0	0	1	8943	11	1	3		3	LRGUK	7	133884088	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	5438203	133884088	25254575	585	145867											
KIAA1549	57670	broad.mit.edu	37	chr7	138601707	138601707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccaccagtggcagcacCggtgctggttgtgctcactt	14	12	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:138601707C>T	uc011kql.1	-	2	2714	c.2665G>A	c.(2665-2667)GGT>AGT	p.G889S	KIAA1549_uc003vuk.3_Missense_Mutation_p.G839S|KIAA1549_uc011kqj.1_Missense_Mutation_p.G889S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	889						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GTGGCAGCACCGGTGCTGGTT	0.652			O	BRAF	pilocytic astrocytoma								T	138601707	C	T	138601707	3	4	283	1	0	0	0	0	1	0	0	0	8244	652	23	1	3263	1	KIAA1549	7	138601707	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4717619	138601707	20536956	586	145868											
KLRG2	346689	broad.mit.edu	37	chr7	139168284	139168284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggttgtcgcaccttcgcGggcacctgcggctgctccag	13	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:139168284G>A	uc003vvb.2	-	1	174	c.105C>T	c.(103-105)CCC>CCT	p.P35P	KLRG2_uc010lnc.2_Silent_p.P35P	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	35	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GCACCTTCGCGGGCACCTGCG	0.701													A	139168284	G	A	139168284	2	1	283	1	0	0	0	0	0	0	0	1	8422	1103	39	1		1	KLRG2	7	139168284	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	566577	139168284	19970379	587	145869											
NOBOX	135935	broad.mit.edu	37	chr7	144098496	144098497	+	Frame_Shift_Ins	INS	-	-	G													ttgtggggagccctggagcgINSggggggcgggcacagtctcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:144098495_144098496C>CG	uc022aoj.1	-	3	487_488	c.487_488G>CG	c.(487-489)cgcfs	p.R163fs		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	163					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)					AGCCCTGGAGCGGGGGGGCGGG	0.629													G	144098497	-	G	144098496	7	5	283	1	0	1	1	0	0	0	0	0	10512	1116	39	0	1520	0	NOBOX	7	144098496	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	4930212	144098496	15040167	588	145870											
ZNF777	27153	broad.mit.edu	37	chr7	149129302	149129302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagacctcatgcttgccCgcgtgcacgcgctgatggat	13	12	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149129302C>T	uc003wfv.2	-	6	2224	c.2061G>A	c.(2059-2061)GCG>GCA	p.A687A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CATGCTTGCCCGCGTGCACGC	0.652													T	149129302	C	T	149129302	2	4	283	1	0	0	0	0	0	0	0	1	18147	639	23	1		1	ZNF777	7	149129302	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5030806	149129302	10009361	589	145871											
ZNF467	168544	broad.mit.edu	37	chr7	149463221	149463221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgccccaggtcaggcgCgggaaaggggctgggaagta	18	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149463221C>T	uc003wgd.2	-	5	511	c.370G>A	c.(370-372)GCG>ACG	p.A124T	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGTCAGGCGCGGGAAAGGGG	0.642													T	149463221	C	T	149463221	3	4	283	1	0	0	0	0	1	0	0	0	17924	768	27	1	1421	1	ZNF467	7	149463221	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	333919	149463221	9675442	590	145872											
SSPO	23145	broad.mit.edu	37	chr7	149512418	149512418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaggacgggctgtgcGtgcccccagcccactgccgc	12	19	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149512418G>A	uc010lpk.2	+	76	10738	c.10738G>A	c.(10738-10740)GTG>ATG	p.V3580M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3580					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCTGTGCGTGCCCCCAGC	0.711													A	149512418	G	A	149512418	3	1	283	1	0	0	0	0	1	0	0	0	15188	1145	40	1	11030	1	SSPO	7	149512418	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	49197	149512418	9626245	591	145873											
ZNF862	643641	broad.mit.edu	37	chr7	149559477	149559477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacggcgtggccgtcacGgagtacgacccccagcccgc	14	16	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:149559477G>A	uc010lpn.2	+	7	3420	c.3228G>A	c.(3226-3228)ACG>ACA	p.T1076T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TGGCCGTCACGGAGTACGACC	0.617													A	149559477	G	A	149559477	2	1	283	1	0	0	0	0	0	0	0	1	18192	1103	39	1		1	ZNF862	7	149559477	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	47059	149559477	9579186	592	145874											
ABCB8	11194	broad.mit.edu	37	chr7	150739088	150739088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcatggaaaacatccGctttgggaagctggaagctt	11	9	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:150739088G>A	uc003wil.3	+	15	1802	c.1709G>A	c.(1708-1710)CGC>CAC	p.R570H	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Missense_Mutation_p.R553H|ABCB8_uc011kvd.1_Missense_Mutation_p.R465H|ABCB8_uc003wim.3_Missense_Mutation_p.R348H|ABCB8_uc003wik.3_Missense_Mutation_p.R553H	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	570	ABC transporter.					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(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAAACATCCGCTTTGGGAAG	0.547													A	150739088	G	A	150739088	3	1	283	1	0	0	0	0	1	0	0	0	47	1087	38	1	1712	1	ABCB8	7	150739088	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1179611	150739088	8399575	593	145875											
NUB1	51667	broad.mit.edu	37	chr7	151057316	151057316	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgccatgtctgttggaCgctgacaaatatttctggta	10	9	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:151057316C>T	uc003wjx.2	+	8	860	c.855C>T	c.(853-855)GAC>GAT	p.D285D	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.D261D|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_RNA|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	261					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				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTCTGTTGGACGCTGACAAAT	0.448													T	151057316	C	T	151057316	2	4	283	1	0	0	0	0	0	0	0	1	10714	535	19	1		1	NUB1	7	151057316	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	318228	151057316	8081347	594	145876											
NUB1	51667	broad.mit.edu	37	chr7	151072987	151072987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgattccaatcctgaaacCgacaaccgtcaagaaagtcc	6	12	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:151072987C>T	uc003wjx.2	+	13	1526	c.1521C>T	c.(1519-1521)ACC>ACT	p.T507T	NUB1_uc003wjw.2_Silent_p.T469T|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	483					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				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATCCTGAAACCGACAACCGTC	0.498													T	151072987	C	T	151072987	2	4	283	1	0	0	0	0	0	0	0	1	10714	639	23	1		1	NUB1	7	151072987	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	15671	151072987	8065676	595	145877											
MLL3	58508	broad.mit.edu	37	chr7	151874710	151874710	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagaccctggggaggtcGtcgcatggggtctgtgtgtc	18	8	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr7:151874710G>A	uc003wla.2	-	38	8047	c.7828C>T	c.(7828-7830)CGA>TGA	p.R2610*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1671*|MLL3_uc003wky.2_Nonsense_Mutation_p.R119*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2610	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGGGAGGTCGTCGCATGGGG	0.527			N		medulloblastoma								A	151874710	G	A	151874710	4	1	283	1	0	0	0	0	0	1	0	0	9622	1153	40	1	6995	1	MLL3	7	151874710	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	801723	151874710	7263953	596	145878											
ARHGEF10	9639	broad.mit.edu	37	chr8	1857614	1857614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccgccggagagcctggcCgtggttgctaacgcgaaacc	13	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:1857614C>T	uc003wpr.2	+	18	2299	c.2121C>T	c.(2119-2121)GCC>GCT	p.A707A	ARHGEF10_uc003wpq.1_Silent_p.A731A|ARHGEF10_uc003wps.2_Silent_p.A669A|ARHGEF10_uc003wpv.2_Silent_p.A440A|ARHGEF10_uc010lre.2_Silent_p.A387A	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	732					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			large_intestine(1)	1		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)		AGAGCCTGGCCGTGGTTGCTA	0.622													T	1857614	C	T	1857614	2	4	283	1	0	0	0	0	0	0	0	1	894	639	23	1		1	ARHGEF10	8	1857614	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		1857614	144506408	597	145879											
SGK223	157285	broad.mit.edu	37	chr8	8235027	8235027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcttctcctgctctgCgggcccggaacacttcccct	9	20	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:8235027C>T	uc003wsh.3	-	2	892	c.892G>A	c.(892-894)GCA>ACA	p.A298T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	298							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TCCTGCTCTGCGGGCCCGGAA	0.677													T	8235027	C	T	8235027	3	4	283	1	0	0	0	0	1	0	0	0	14210	768	27	1	3332	1	SGK223	8	8235027	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6377413	8235027	138128995	598	145880											
PRSS55	203074	broad.mit.edu	37	chr8	10388924	10388924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagccaacatggacaatgAcattgccttgctgctgctgg	12	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:10388924A>G	uc003wta.2	+	3	482	c.467A>G	c.(466-468)GAC>GGC	p.D156G	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	156	Extracellular (Potential).|Peptidase S1.	Charge relay system (By similarity).			proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						ATGGACAATGACATTGCCTTG	0.557													G	10388924	A	G	10388924	3	3	283	1	0	0	0	0	1	0	0	0	12634	275	10	3	477	3	PRSS55	8	10388924	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2153897	10388924	135975098	599	145881											
C8orf74	203076	broad.mit.edu	37	chr8	10557880	10557880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactctgaacctcaacgccCccacccctatcccgcccccc	4	24	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:10557880C>A	uc003wtd.1	+	4	813	c.784C>A	c.(784-786)CCC>ACC	p.P262T	C8orf74_uc003wte.1_RNA	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	262											0				COAD - Colon adenocarcinoma(149;0.0811)		CCTCAACGCCCCCACCCCTAT	0.587													A	10557880	C	A	10557880	3	1	283	1	0	0	0	0	1	0	0	0	2436	623	22	5	798	5	C8orf74	8	10557880	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	168956	10557880	135806142	600	145882											
EFHA2	286097	broad.mit.edu	37	chr8	16884801	16884801	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgctatggctgcgctgCgaaggctcttgtggccgcca	13	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:16884801C>T	uc003wxd.2	+	1	55	c.13C>T	c.(13-15)CGA>TGA	p.R5*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	5						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GGCTGCGCTGCGAAGGCTCTT	0.627													T	16884801	C	T	16884801	4	4	283	1	0	0	0	0	0	1	0	0	4944	760	27	1	15	1	EFHA2	8	16884801	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6326921	16884801	129479221	601	145883											
EFHA2	286097	broad.mit.edu	37	chr8	16884877	16884877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttgggccgtgggggcGgcctgcggtgaccaccctgg	17	15	0	1	rs2705203		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:16884877G>A	uc003wxd.2	+	1	131	c.89G>A	c.(88-90)CGG>CAG	p.R30Q		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	30						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CCGTGGGGGCGGCCTGCGGTG	0.587													A	16884877	G	A	16884877	3	1	283	1	0	0	0	0	1	0	0	0	4944	1116	39	1	91	1	EFHA2	8	16884877	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	76	16884877	129479145	602	145884											
ASAH1	427	broad.mit.edu	37	chr8	17919227	17919227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttatactgaaacgttcaTtcagtgtaagactgaacagt	7	7	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:17919227T>C	uc003wyl.2	-	9	983	c.671A>G	c.(670-672)AAT>AGT	p.N224S	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.N199S|ASAH1_uc003wyn.2_Missense_Mutation_p.N240S|ASAH1_uc003wyo.2_Missense_Mutation_p.N218S	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	224					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GAAACGTTCATTCAGTGTAAG	0.438													C	17919227	T	C	17919227	3	2	283	1	0	0	0	0	1	0	0	0	1006	1493	52	3	540	3	ASAH1	8	17919227	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1034350	17919227	128444795	603	145885											
SORBS3	10174	broad.mit.edu	37	chr8	22428685	22428685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggacagacctccccccGtcgcactggcttctccttcc	11	18	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:22428685G>A	uc003xbv.2	+	18	2034	c.1694G>A	c.(1693-1695)CGT>CAT	p.R565H	SORBS3_uc003xbw.3_Missense_Mutation_p.R223H	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	565					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		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)		ACCTCCCCCCGTCGCACTGGC	0.697													A	22428685	G	A	22428685	3	1	283	1	0	0	0	0	1	0	0	0	14929	1145	40	1	1760	1	SORBS3	8	22428685	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4509458	22428685	123935337	604	145886											
PDLIM2	64236	broad.mit.edu	37	chr8	22438965	22438965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggccatcaacggggaaaGcgcggagggcatgctgcatg	17	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:22438965G>A	uc003xby.2	+	3	567	c.167G>A	c.(166-168)AGC>AAC	p.S56N	PDLIM2_uc003xbx.1_Missense_Mutation_p.S56N|PDLIM2_uc003xbz.2_Missense_Mutation_p.S56N|PDLIM2_uc003xca.2_Missense_Mutation_p.S56N|PDLIM2_uc003xcb.2_Missense_Mutation_p.S56N|PDLIM2_uc003xcc.1_Missense_Mutation_p.S56N	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	56	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		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)		AACGGGGAAAGCGCGGAGGGC	0.672													A	22438965	G	A	22438965	3	1	283	1	0	0	0	0	1	0	0	0	11680	971	34	2	173	2	PDLIM2	8	22438965	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	10280	22438965	123925057	605	145887											
EGR3	1960	broad.mit.edu	37	chr8	22548299	22548299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgaacggctgaaacggCggtcgcagccctcggccggg	16	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:22548299C>T	uc003xcm.1	-	2	1209	c.851G>A	c.(850-852)CGC>CAC	p.R284H	EGR3_uc011kzn.1_Missense_Mutation_p.R246H|EGR3_uc011kzo.1_Missense_Mutation_p.R230H	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	284	C2H2-type 1.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTGAAACGGCGGTCGCAGCC	0.697													T	22548299	C	T	22548299	3	4	283	1	0	0	0	0	1	0	0	0	4973	768	27	1	316	1	EGR3	8	22548299	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	109334	22548299	123815723	606	145888											
CLU	1191	broad.mit.edu	37	chr8	27461863	27461863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcatccgcaggcagccCgtggagttgtggcggatctc	13	13	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:27461863C>T	uc003xfw.1	-	5	937	c.879G>A	c.(877-879)ACG>ACA	p.T293T	CLU_uc010lux.1_Silent_p.T158T|CLU_uc003xfx.1_Silent_p.T293T|CLU_uc003xfy.1_Silent_p.T304T|CLU_uc003xfz.1_Silent_p.T345T	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	293					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GCAGGCAGCCCGTGGAGTTGT	0.612													T	27461863	C	T	27461863	2	4	283	1	0	0	0	0	0	0	0	1	3568	639	23	1		1	CLU	8	27461863	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4913564	27461863	118902159	607	145889											
HMBOX1	79618	broad.mit.edu	37	chr8	28902933	28902933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggaagaaattgcaaacGcttgcaatgcagttatacag	11	6	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:28902933G>A	uc003xhd.3	+	7	1249	c.907G>A	c.(907-909)GCT>ACT	p.A303T	HMBOX1_uc010lvd.2_Missense_Mutation_p.A303T|HMBOX1_uc003xhc.3_Missense_Mutation_p.A303T|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.A303T|HMBOX1_uc011lay.1_Missense_Mutation_p.A303T|HMBOX1_uc003xhf.2_Missense_Mutation_p.A291T|HMBOX1_uc003xhg.2_Missense_Mutation_p.A291T	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	303	Homeobox.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AATTGCAAACGCTTGCAATGC	0.458													A	28902933	G	A	28902933	3	1	283	1	0	0	0	0	1	0	0	0	7218	1087	38	1	929	1	HMBOX1	8	28902933	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1441070	28902933	117461089	608	145890											
WRN	7486	broad.mit.edu	37	chr8	30949415	30949415	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctaacagatattaaattGtgagtaatttttttccctca	5	6	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:30949415G>A	uc003xio.3	+	16	2686	c.1898_splice	c.e16+1	p.L633_splice	WRN_uc010lvk.2_Splice_Site_p.L100_splice	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein						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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATATTAAATTGTGAGTAAttt	0.214			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30949415	G	A	30949415	5	1	283	1	0	0	0	0	0	0	1	0	17399	1391	48	4	1957	4	WRN	8	30949415	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2046482	30949415	115414607	609	145891											
WRN	7486	broad.mit.edu	37	chr8	30969237	30969237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctgtactggttttgatcGaccaaacctgtatttagaag	8	9	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:30969237G>A	uc003xio.3	+	19	2983	c.2195G>A	c.(2194-2196)CGA>CAA	p.R732Q	WRN_uc010lvk.2_Missense_Mutation_p.R199Q	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	732					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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGTTTTGATCGACCAAACCTG	0.403			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				A	30969237	G	A	30969237	3	1	283	1	0	0	0	0	1	0	0	0	17399	1058	37	1	2265	1	WRN	8	30969237	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	19822	30969237	115394785	610	145892											
NRG1	3084	broad.mit.edu	37	chr8	31498176	31498176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccggccgccttccgagccTctttcccccctctggagacg	10	20	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:31498176T>C	uc003xip.2	+	1	909	c.676T>C	c.(676-678)TCT>CCT	p.S226P		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					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|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|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTCCGAGCCTCTTTCCCCCC	0.672													C	31498176	T	C	31498176	3	2	283	1	0	0	0	0	1	0	0	0	10647	1551	54	3	678	3	NRG1	8	31498176	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	528939	31498176	114865846	611	145893											
C8orf41	80185	broad.mit.edu	37	chr8	33367395	33367395	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagggccgagtgacctGttgcagagtccatgagaaaa	13	10	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:33367395G>A	uc003xjl.3	-	2	1228	c.703C>T	c.(703-705)CAG>TAG	p.Q235*	C8orf41_uc003xjk.3_Nonsense_Mutation_p.Q235*|C8orf41_uc010lvv.2_Nonsense_Mutation_p.Q235*|C8orf41_uc003xjm.3_Nonsense_Mutation_p.Q235*|C8orf41_uc003xjn.1_Nonsense_Mutation_p.Q235*	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	235							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CGAGTGACCTGTTGCAGAGTC	0.443													A	33367395	G	A	33367395	4	1	283	1	0	0	0	0	0	1	0	0	2427	1386	48	4	847	4	C8orf41	8	33367395	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1869219	33367395	112996627	612	145894											
ADAM9	8754	broad.mit.edu	37	chr8	38912090	38912090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgactgttgtaaagactgtCgggtaaggaattcctccctt	11	8	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:38912090C>T	uc003xmr.2	+	13	1471	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	465	Extracellular (Potential).|Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|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|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			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TAAAGACTGTCGGGTAAGGAA	0.358													T	38912090	C	T	38912090	3	4	283	1	0	0	0	0	1	0	0	0	253	875	31	1	1443	1	ADAM9	8	38912090	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5544695	38912090	107451932	613	145895											
ANK1	286	broad.mit.edu	37	chr8	41581130	41581130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccctgcgggaggcgaTgtgcagtggcgtgatgccgt	18	10	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:41581130T>C	uc003xok.2	-	8	817	c.733A>G	c.(733-735)ATC>GTC	p.I245V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.I245V|ANK1_uc003xoj.2_Missense_Mutation_p.I245V|ANK1_uc003xol.2_Missense_Mutation_p.I245V|ANK1_uc003xom.2_Missense_Mutation_p.I278V	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	245	ANK 7.|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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			CGGGAGGCGATGTGCAGTGGC	0.632													C	41581130	T	C	41581130	3	2	283	1	0	0	0	0	1	0	0	0	620	1464	51	3	5406	3	ANK1	8	41581130	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	2669040	41581130	104782892	614	145896											
ANK1	286	broad.mit.edu	37	chr8	41583342	41583342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgtgcgcgtgtcgtcGttgcgggccgcgatgtgcag	18	12	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:41583342G>A	uc003xok.2	-	6	633	c.549C>T	c.(547-549)AAC>AAT	p.N183N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.N183N|ANK1_uc003xoj.2_Silent_p.N183N|ANK1_uc003xol.2_Silent_p.N183N|ANK1_uc003xom.2_Silent_p.N216N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	183	ANK 5.|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			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			GCGTGTCGTCGTTGCGGGCCG	0.687													A	41583342	G	A	41583342	2	1	283	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41583342	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2212	41583342	104780680	615	145897											
IKBKB	3551	broad.mit.edu	37	chr8	42166502	42166502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctttgagtgcatcacGggcttccggcccttcctccc	10	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:42166502G>A	uc003xow.1	+	8	828	c.651G>A	c.(649-651)ACG>ACA	p.T217T	IKBKB_uc003xov.2_Silent_p.T217T|IKBKB_uc010lxh.1_Silent_p.T112T|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.T215T|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.T158T	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	217	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(3)|ovary(2)|lung(1)|skin(1)	7	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)	AGTGCATCACGGGCTTCCGGC	0.632													A	42166502	G	A	42166502	2	1	283	1	0	0	0	0	0	0	0	1	7611	1103	39	1		1	IKBKB	8	42166502	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	583160	42166502	104197520	616	145898											
VDAC3	7419	broad.mit.edu	37	chr8	42262421	42262421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgattggactgggtTatactcagacccttcgacca	9	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:42262421T>C	uc011lct.1	+	9	882	c.739T>C	c.(739-741)TAT>CAT	p.Y247H	VDAC3_uc003xpc.2_Missense_Mutation_p.Y248H	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b	247	Beta stranded; (By similarity).				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|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;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TGGACTGGGTTATACTCAGAC	0.378													C	42262421	T	C	42262421	3	2	283	1	0	0	0	0	1	0	0	0	17145	1754	61	3	768	3	VDAC3	8	42262421	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	95919	42262421	104101601	617	145899											
PXDNL	137902	broad.mit.edu	37	chr8	52321537	52321537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgatctgctctcgtgCatagactgaatccaccgtcg	10	12	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:52321537C>T	uc003xqu.3	-	17	2748	c.2647G>A	c.(2647-2649)GCA>ACA	p.A883T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	883					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCTCTCGTGCATAGACTGAA	0.662													T	52321537	C	T	52321537	3	4	283	1	0	0	0	0	1	0	0	0	12848	710	25	2	1772	2	PXDNL	8	52321537	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10059116	52321537	94042485	618	145900											
ST18	9705	broad.mit.edu	37	chr8	53077775	53077775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgagcacattttcatgCatggcaagaactaagcacaa	7	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:53077775C>T	uc003xqz.2	-	7	1371	c.1215G>A	c.(1213-1215)ATG>ATA	p.M405I	ST18_uc011ldq.1_Missense_Mutation_p.M52I|ST18_uc011ldr.1_Missense_Mutation_p.M370I|ST18_uc011lds.1_Missense_Mutation_p.M310I|ST18_uc003xra.2_Missense_Mutation_p.M405I|ST18_uc003xrb.2_Missense_Mutation_p.M405I	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTTTCATGCATGGCAAGAA	0.413													T	53077775	C	T	53077775	3	4	283	1	0	0	0	0	1	0	0	0	15211	710	25	2	1988	2	ST18	8	53077775	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	756238	53077775	93286247	619	145901											
RB1CC1	9821	broad.mit.edu	37	chr8	53573205	53573206	+	Frame_Shift_Ins	INS	-	-	A													cctaaacagacgatttcttaINSaaaaagacttccctgtataa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:53573204_53573205T>TA	uc003xre.4	-	11	2198_2199	c.1640_1641A>TA	c.(1639-1641)ttafs	p.L547fs	RB1CC1_uc003xrf.4_Frame_Shift_Ins_p.L547fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	547					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	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)				GACGATTTCTTAAAAAAGACTT	0.302													A	53573206	-	A	53573205	7	5	283	1	0	1	1	0	0	0	0	0	13099	372	13	0	3196	0	RB1CC1	8	53573205	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	495430	53573205	92790817	620	145902											
OPRK1	4986	broad.mit.edu	37	chr8	54163462	54163462	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgcgggctccagctgcgcgtCctccgagccggcgctgccgt	15	18	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:54163462C>G	uc003xrh.1	-	1	511	c.136G>C	c.(136-138)GAC>CAC	p.D46H	OPRK1_uc003xri.1_Missense_Mutation_p.D46H|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	46	Extracellular (Potential).				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			ovary(1)|skin(1)	2		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)	AGCTGCGCGTCCTCCGAGCCG	0.716													G	54163462	C	G	54163462	3	3	283	1	0	0	0	0	1	0	0	0	10885	855	30	5	1018	5	OPRK1	8	54163462	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	590257	54163462	92200560	621	145903											
XKR4	114786	broad.mit.edu	37	chr8	56015092	56015092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaaatgaagaaaagcaGcgacgtggcgttcaccccgc	12	11	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:56015092G>T	uc003xsf.2	+	1	76	c.44G>T	c.(43-45)AGC>ATC	p.S15I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	15						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAGAAAAGCAGCGACGTGGCG	0.607													T	56015092	G	T	56015092	3	4	283	1	0	0	0	0	1	0	0	0	17430	971	34	5	46	5	XKR4	8	56015092	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1851630	56015092	90348930	622	145904											
PLAG1	5324	broad.mit.edu	37	chr8	57079206	57079206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgggatgaagagggcaCgccaccttgtaactccatca	10	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:57079206C>T	uc003xsq.3	-	3	1550	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	PLAG1_uc003xsr.3_Missense_Mutation_p.V367M|PLAG1_uc010lyi.2_Missense_Mutation_p.V367M|PLAG1_uc010lyj.2_Missense_Mutation_p.V285M	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	367	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAGAGGGCACGCCACCTTGT	0.458			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma								T	57079206	C	T	57079206	3	4	283	1	0	0	0	0	1	0	0	0	12018	536	19	1	407	1	PLAG1	8	57079206	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1064114	57079206	89284816	623	145905											
CA8	767	broad.mit.edu	37	chr8	61137128	61137128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggattaaagcaaggtAttgttttggacttcccctga	10	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:61137128A>G	uc003xtz.1	-	6	841	c.593T>C	c.(592-594)ATA>ACA	p.I198T	CA8_uc003xua.1_Missense_Mutation_p.I198T	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	198					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				AAAGCAAGGTATTGTTTTGGA	0.269													G	61137128	A	G	61137128	3	3	283	1	0	0	0	0	1	0	0	0	2523	449	16	3	291	3	CA8	8	61137128	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	4057922	61137128	85226894	624	145906											
VCPIP1	80124	broad.mit.edu	37	chr8	67577032	67577032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattacagaagcctgttccGtaatattctgttgaatagtt	8	7	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:67577032G>A	uc003xwn.2	-	1	2421	c.2162C>T	c.(2161-2163)ACG>ATG	p.T721M	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	721					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		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)			AGCCTGTTCCGTAATATTCTG	0.378													A	67577032	G	A	67577032	3	1	283	1	0	0	0	0	1	0	0	0	17138	1145	40	1	1518	1	VCPIP1	8	67577032	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6439904	67577032	78786990	625	145907											
JPH1	56704	broad.mit.edu	37	chr8	75227597	75227597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagaagggagcccctcCggaagaggccgcccttcttc	11	15	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:75227597C>T	uc003yae.2	-	2	678	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	JPH1_uc003yaf.2_Missense_Mutation_p.R213Q|JPH1_uc003yag.1_Missense_Mutation_p.R77Q	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	213	Cytoplasmic (Potential).				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				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGAGCCCCTCCGGAAGAGGCC	0.652													T	75227597	C	T	75227597	3	4	283	1	0	0	0	0	1	0	0	0	7960	652	23	1	1363	1	JPH1	8	75227597	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	7650565	75227597	71136425	626	145908											
ZFHX4	79776	broad.mit.edu	37	chr8	77767090	77767090	+	Frame_Shift_Del	DEL	A	A	-													ttgcccgcgaagtcgggctgAaaaaaagggtcgtgcaagtc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:77767089_77767089GA>G	uc003yau.2	+	9	8319	c.7932_7932GA>G	c.(7930-7932)ctgfs	p.L2644fs	ZFHX4_uc003yaw.1_Frame_Shift_Del_p.L2599fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2643R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTCGGGCTGAAAAAAAGGG	0.512										HNSCC(33;0.089)			-	77767090	A	-	77767090	7	5	283	1	0	1	0	1	0	0	0	0	17632	247	9	0	7967	0	ZFHX4	8	77767090	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	2539493	77767090	68596932	627	145909											
ZFHX4	79776	broad.mit.edu	37	chr8	77775852	77775852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcctctttccttatggccCtacaatgccccagacactgg	8	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:77775852C>A	uc003yav.2	+	11	10154	c.9767C>A	c.(9766-9768)CCT>CAT	p.P3256H		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3252						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTTATGGCCCTACAATGCCC	0.403										HNSCC(33;0.089)			A	77775852	C	A	77775852	3	1	283	1	0	0	0	0	1	0	0	0	17632	681	24	5	9940	5	ZFHX4	8	77775852	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	8762	77775852	68588170	628	145910											
PEX2	5828	broad.mit.edu	37	chr8	77895873	77895873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaacttcacatatgtttTgaggcttgcaaaatacagaa	7	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:77895873T>C	uc003yax.2	-	4	1000	c.542A>G	c.(541-543)CAA>CGA	p.Q181R	PEX2_uc003yay.2_Missense_Mutation_p.Q181R|PEX2_uc003yaz.2_Missense_Mutation_p.Q181R	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	181					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						ACATATGTTTTGAGGCTTGCA	0.373													C	77895873	T	C	77895873	3	2	283	1	0	0	0	0	1	0	0	0	11745	1812	63	3	379	3	PEX2	8	77895873	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	120021	77895873	68468149	629	145911											
RALYL	138046	broad.mit.edu	37	chr8	85799874	85799874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattggaagagagtctagtgCtgatccaagaggaatgtgtg	14	4	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:85799874C>T	uc003ycq.3	+	9	1137	c.721C>T	c.(721-723)CTG>TTG	p.L241L	RALYL_uc003ycr.3_Silent_p.L241L|RALYL_uc003ycs.3_Silent_p.L241L|RALYL_uc010lzy.2_Silent_p.L230L|RALYL_uc003yct.3_Silent_p.L254L|RALYL_uc003ycu.3_Silent_p.L168L|RALYL_uc003ycv.3_Intron	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	241	Potential.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						GAGTCTAGTGCTGATCCAAGA	0.493													T	85799874	C	T	85799874	2	4	283	1	0	0	0	0	0	0	0	1	13020	796	28	2		2	RALYL	8	85799874	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	7904001	85799874	60564148	630	145912											
SLC7A13	157724	broad.mit.edu	37	chr8	87242019	87242019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacactttcagcactgagCtagctatctgaagccaagtc	9	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:87242019C>T	uc003ydq.1	-	1	586	c.488G>A	c.(487-489)AGC>AAC	p.S163N	SLC7A13_uc003ydr.1_Missense_Mutation_p.S163N	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	163	Helical; Name=5; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						CAGCACTGAGCTAGCTATCTG	0.433													T	87242019	C	T	87242019	3	4	283	1	0	0	0	0	1	0	0	0	14695	797	28	2	940	2	SLC7A13	8	87242019	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1442145	87242019	59122003	631	145913											
CNGB3	54714	broad.mit.edu	37	chr8	87590929	87590929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttattacctgagctgcttgCtctcgcttcaatttgagtag	8	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:87590929C>A	uc003ydx.2	-	17	2137	c.2091G>T	c.(2089-2091)GAG>GAT	p.E697D	CNGB3_uc010maj.2_Missense_Mutation_p.E554D	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	697	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GAGCTGCTTGCTCTCGCTTCA	0.463													A	87590929	C	A	87590929	3	1	283	1	0	0	0	0	1	0	0	0	3601	796	28	5	346	5	CNGB3	8	87590929	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	348910	87590929	58773093	632	145914											
NBN	4683	broad.mit.edu	37	chr8	90967512	90967512	+	Splice_Site	DEL	T	T	-													gaagttatcaaaaacagaccTttttttggtagacggctgaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:90967511_90967511CT>C	uc003yej.1	-	10	1507	c.1397_splice	c.e10+1	p.R466_splice	NBN_uc011lgb.1_Splice_Site_p.R466_splice|NBN_uc003yei.1_Splice_Site_p.R384_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	466					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|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			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)			AAAAACAGACCTTTTTTTGGT	0.338								Homologous recombination					-	90967512	T	-	90967512	8	5	283	1	0	1	0	1	0	0	1	0	10191	1623	56	0	896	0	NBN	8	90967512	Splice_Site	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	3376583	90967512	55396510	633	145915											
TMEM64	169200	broad.mit.edu	37	chr8	91637965	91637965	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagaatgaagagccactGgtatttggttgattgccttt	11	5	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:91637965G>T	uc003yen.2	-	3	1077	c.1077C>A	c.(1075-1077)ACC>ACA	p.T359T	TMEM64_uc003yeo.2_Silent_p.T98T|TMEM64_uc011lgf.1_Silent_p.T307T	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	359						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AAGAGCCACTGGTATTTGGTT	0.388													T	91637965	G	T	91637965	2	4	283	1	0	0	0	0	0	0	0	1	16190	1335	47	5		5	TMEM64	8	91637965	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	670453	91637965	54726057	634	145916											
SLC26A7	115111	broad.mit.edu	37	chr8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-													ctcttgctcaaggatctgccAaaaaattcaaatattcaatt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:92352747delA	uc003yex.2	+	9	1272	c.994delA	c.(994-996)AAAfs	p.K332fs	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Del_p.K332fs|SLC26A7_uc003yfa.2_Frame_Shift_Del_p.K332fs	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	332	Extracellular (Potential).					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			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGGATCTGCCAAAAAATTCAA	0.502													-	92352747	A	-	92352747	7	5	283	1	0	1	0	1	0	0	0	0	14522	131	5	0	1020	0	SLC26A7	8	92352747	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	714782	92352747	54011275	635	145917											
TSPYL5	85453	broad.mit.edu	37	chr8	98289664	98289664	+	Frame_Shift_Del	DEL	G	G	-													gccacgccggtttccaacgcGgggggcatttttcggccttc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:98289663_98289663CG>C	uc003yhy.3	-	0	514	c.410_410CG>G	c.(409-411)cgcfs	p.R137fs		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	137					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)					GTTTCCAACGCGGGGGGCATT	0.672													-	98289664	G	-	98289664	7	5	283	1	0	1	0	1	0	0	0	0	16659	1116	39	0	848	0	TSPYL5	8	98289664	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	5936917	98289664	48074358	636	145918											
TSPYL5	85453	broad.mit.edu	37	chr8	98289974	98289974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagggtccgggtcgcgCggggcgtcgtccggagcagg	21	10	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:98289974C>T	uc003yhy.2	-	1	203	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	33					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			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					CCGGGTCGCGCGGGGCGTCGT	0.711													T	98289974	C	T	98289974	2	4	283	1	0	0	0	0	0	0	0	1	16659	755	27	1		1	TSPYL5	8	98289974	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	310	98289974	48074048	637	145919											
TSPYL5	85453	broad.mit.edu	37	chr8	98290067	98290067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgaccccgacttcggccGctcatggtggcggcggaggc	15	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:98290067G>A	uc003yhy.2	-	1	110	c.6C>T	c.(4-6)AGC>AGT	p.S2S		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	2					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			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GACTTCGGCCGCTCATGGTGG	0.706													A	98290067	G	A	98290067	2	1	283	1	0	0	0	0	0	0	0	1	16659	1078	38	1		1	TSPYL5	8	98290067	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	93	98290067	48073955	638	145920											
FBXO43	286151	broad.mit.edu	37	chr8	101146558	101146558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgatttaaaagctggagcCgagtggcagcatcctcgaca	12	10	0	0	rs77680502	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101146558C>T	uc003yjd.2	-	4	2422	c.1709G>A	c.(1708-1710)CGG>CAG	p.R570Q	FBXO43_uc003yje.2_Missense_Mutation_p.R536Q	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	570					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AAGCTGGAGCCGAGTGGCAGC	0.488													T	101146558	C	T	101146558	3	4	283	1	0	0	0	0	1	0	0	0	5752	652	23	1	425	1	FBXO43	8	101146558	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2856491	101146558	45217464	639	145921											
RNF19A	25897	broad.mit.edu	37	chr8	101271373	101271373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaaccgccagcatgacttCgggtggcactgccatcatcc	10	14	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101271373C>T	uc003yjj.1	-	11	2245	c.1928G>A	c.(1927-1929)CGA>CAA	p.R643Q	RNF19A_uc003yjk.1_Missense_Mutation_p.R643Q	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	643					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	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)			AGCATGACTTCGGGTGGCACT	0.483											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	101271373	C	T	101271373	3	4	283	1	0	0	0	0	1	0	0	0	13470	884	31	1	592	1	RNF19A	8	101271373	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	124815	101271373	45092649	640	145922											
SNX31	169166	broad.mit.edu	37	chr8	101586120	101586120	+	Frame_Shift_Del	DEL	A	A	-													tcttcttcctttatgttcccAaaaacgcagtcatctttagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101586119_101586119CA>C	uc003yjr.3	-	13	1448	c.1297_1297TG>G	c.(1297-1299)gggfs	p.G433fs	SNX31_uc011lha.2_Frame_Shift_Del_p.G228fs|SNX31_uc011lhb.2_Frame_Shift_Del_p.G334fs	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	433					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)			TTTATGTTCCCAAAAACGCAG	0.368													-	101586120	A	-	101586120	7	5	283	1	0	1	0	1	0	0	0	0	14901	127	5	0	30	0	SNX31	8	101586120	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	314747	101586120	44777902	641	145923											
PABPC1	26986	broad.mit.edu	37	chr8	101733683	101733683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgggtgatcatgtccctGcagacccggatggagaggat	16	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:101733683G>A	uc003yjs.1	-	1	633	c.129C>T	c.(127-129)TGC>TGT	p.C43C	PABPC1_uc011lhc.1_Silent_p.C43C|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Silent_p.C43C|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	43	RRM 1.				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				0	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)			TCATGTCCCTGCAGACCCGGA	0.612													A	101733683	G	A	101733683	2	1	283	1	0	0	0	0	0	0	0	1	11363	1311	46	2		2	PABPC1	8	101733683	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	147563	101733683	44630339	642	145924											
UBR5	51366	broad.mit.edu	37	chr8	103277490	103277490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcgactagagccatggCgctttcggttttcctgctaa	9	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:103277490C>T	uc003ykr.1	-	53	7472	c.7439G>A	c.(7438-7440)CGC>CAC	p.R2480H	UBR5_uc003yks.1_Missense_Mutation_p.R2479H|UBR5_uc003ykq.2_5'UTR	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2480	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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			AGAGCCATGGCGCTTTCGGTT	0.388													T	103277490	C	T	103277490	3	4	283	1	0	0	0	0	1	0	0	0	16902	768	27	1	988	1	UBR5	8	103277490	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1543807	103277490	43086532	643	145925											
LRP12	29967	broad.mit.edu	37	chr8	105502978	105502978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagtgtctggtatctgggCagtgtggacaataccacagc	13	9	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:105502978C>T	uc003yma.2	-	7	2598	c.2503G>A	c.(2503-2505)GCC>ACC	p.A835T	LRP12_uc003ymb.2_Missense_Mutation_p.A816T|LRP12_uc003ylz.2_Missense_Mutation_p.A241T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	835	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGTATCTGGGCAGTGTGGACA	0.443													T	105502978	C	T	105502978	3	4	283	1	0	0	0	0	1	0	0	0	8954	710	25	2	80	2	LRP12	8	105502978	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2225488	105502978	40861044	644	145926											
TRHR	7201	broad.mit.edu	37	chr8	110099964	110099964	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtagctgatctcatggtcTtggtggccgcaggcctcccc	12	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:110099964T>A	uc003ymz.3	+	1	239	c.223T>A	c.(223-225)TTG>ATG	p.L75M		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	75	Helical; Name=2; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTCATGGTCTTGGTGGCCGC	0.522													A	110099964	T	A	110099964	3	1	283	1	0	0	0	0	1	0	0	0	16477	1606	56	5	225	5	TRHR	8	110099964	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	4596986	110099964	36264058	645	145927											
CSMD3	114788	broad.mit.edu	37	chr8	113318256	113318256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacacagcgaggggtcttgTtatgattgctccatgttcca	10	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:113318256T>G	uc003ynu.2	-	51	8210	c.8051A>C	c.(8050-8052)AAC>ACC	p.N2684T	CSMD3_uc003yns.2_Missense_Mutation_p.N1886T|CSMD3_uc003ynt.2_Missense_Mutation_p.N2644T|CSMD3_uc011lhx.1_Missense_Mutation_p.N2580T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2684	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGGGTCTTGTTATGATTGCT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113318256	T	G	113318256	3	3	283	1	0	0	0	0	1	0	0	0	3946	1725	60	5	3156	5	CSMD3	8	113318256	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	3218292	113318256	33045766	646	145928											
TRPS1	7227	broad.mit.edu	37	chr8	116616339	116616339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgactcgcgagcttccagcCgccccaggagacaagtgcag	12	14	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:116616339C>T	uc003ynz.2	-	3	2277	c.1818G>A	c.(1816-1818)GCG>GCA	p.A606A	TRPS1_uc011lhy.1_Silent_p.A610A|TRPS1_uc003yny.2_Silent_p.A619A|TRPS1_uc010mcy.2_Silent_p.A606A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	606					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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			AGCTTCCAGCCGCCCCAGGAG	0.483									Langer-Giedion_syndrome				T	116616339	C	T	116616339	2	4	283	1	0	0	0	0	0	0	0	1	16590	639	23	1		1	TRPS1	8	116616339	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3298083	116616339	29747683	647	145929											
EXT1	2131	broad.mit.edu	37	chr8	118819539	118819539	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccgctccttagagttAtcccagaagtggctgcgcgc	10	16	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:118819539A>G	uc003yok.1	-	9	2573	c.1800T>C	c.(1798-1800)GAT>GAC	p.D600D		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	600	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTTAGAGTTATCCCAGAAGT	0.532			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				G	118819539	A	G	118819539	2	3	283	1	0	0	0	0	0	0	0	1	5323	446	16	3		3	EXT1	8	118819539	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2203200	118819539	27544483	648	145930											
FAM135B	51059	broad.mit.edu	37	chr8	139165377	139165377	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaattgctatttaccatacaGttatcttccttgtctttcag	4	9	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:139165377G>C	uc003yuy.2	-	13	1512	c.1341C>G	c.(1339-1341)AAC>AAG	p.N447K	FAM135B_uc003yux.2_Missense_Mutation_p.N348K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.N9K|FAM135B_uc003yvb.2_Missense_Mutation_p.N9K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	447										ovary(7)|skin(2)	9	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)			TTACCATACAGTTATCTTCCT	0.338										HNSCC(54;0.14)			C	139165377	G	C	139165377	3	2	283	1	0	0	0	0	1	0	0	0	5449	1020	36	5	2911	5	FAM135B	8	139165377	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	20345838	139165377	7198645	649	145931											
DENND3	22898	broad.mit.edu	37	chr8	142178354	142178354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtataaaacagacataCggatctttcccactgatttg	6	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142178354C>T	uc003yvy.2	+	13	2043	c.1765C>T	c.(1765-1767)CGG>TGG	p.R589W	DENND3_uc010mep.2_Missense_Mutation_p.R550W|DENND3_uc003yvz.1_Missense_Mutation_p.R273W	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	589										ovary(1)	1	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)			AACAGACATACGGATCTTTCC	0.557													T	142178354	C	T	142178354	3	4	283	1	0	0	0	0	1	0	0	0	4432	527	19	1	1811	1	DENND3	8	142178354	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3012977	142178354	4185668	650	145932											
SLC45A4	57210	broad.mit.edu	37	chr8	142228929	142228929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgcccccatccagggcGccgggctcctcagcgctgcg	14	19	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142228929G>A	uc003ywd.1	-	4	965	c.657C>T	c.(655-657)GGC>GGT	p.G219G	SLC45A4_uc003ywc.1_Silent_p.G219G|SLC45A4_uc010meq.1_Silent_p.G217G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	270					transport	integral to membrane				ovary(2)	2	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)			CATCCAGGGCGCCGGGCTCCT	0.677													A	142228929	G	A	142228929	2	1	283	1	0	0	0	0	0	0	0	1	14643	1074	38	1		1	SLC45A4	8	142228929	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	50575	142228929	4135093	651	145933											
PTP4A3	11156	broad.mit.edu	37	chr8	142435181	142435181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggctaccactgtggtgCgtgtgtgtgaagtgacctat	15	8	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142435181C>T	uc003ywg.1	+	2	473	c.139C>T	c.(139-141)CGT>TGT	p.R47C	PTP4A3_uc003ywh.1_Missense_Mutation_p.R47C|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	47						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	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)			CACTGTGGTGCGTGTGTGTGA	0.657													T	142435181	C	T	142435181	3	4	283	1	0	0	0	0	1	0	0	0	12772	768	27	1	145	1	PTP4A3	8	142435181	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	206252	142435181	3928841	652	145934											
PTP4A3	11156	broad.mit.edu	37	chr8	142441098	142441098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccaaacagaggctgcGgttcaaagacccacacacgc	10	16	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142441098G>A	uc003ywg.1	+	5	810	c.476G>A	c.(475-477)CGG>CAG	p.R159Q	PTP4A3_uc003ywh.1_Missense_Mutation_p.R134Q|PTP4A3_uc010met.1_Missense_Mutation_p.G73S	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	159						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	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)			CAGAGGCTGCGGTTCAAAGAC	0.592													A	142441098	G	A	142441098	3	1	283	1	0	0	0	0	1	0	0	0	12772	1116	39	1	494	1	PTP4A3	8	142441098	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5917	142441098	3922924	653	145935											
FLJ43860	389690	broad.mit.edu	37	chr8	142506534	142506534	+	Frame_Shift_Del	DEL	G	G	-													gtgtgaccatctgtccctgcGggcagagtcctggtgtacct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:142506533_142506533CG>C	uc003ywi.2	-	1	230	c.149_149CG>G	c.(148-150)cgcfs	p.R50fs	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	50							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-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;0.0493)			TCTGTCCCTGCGGGCAGAGTC	0.577													-	142506534	G	-	142506534	7	5	283	1	0	1	0	1	0	0	0	0	5930	1116	39	0	3924	0	FLJ43860	8	142506534	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	65436	142506534	3857488	654	145936											
BAI1	575	broad.mit.edu	37	chr8	143624776	143624776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcggcggaagtcgCggtatgcagaactggacttt	14	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:143624776C>T	uc003ywm.2	+	28	4609	c.4426C>T	c.(4426-4428)CGG>TGG	p.R1476W		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1476	Cytoplasmic (Potential).|Necessary for interaction with MAGI1.				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			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	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)					GCGGAAGTCGCGGTATGCAGA	0.627													T	143624776	C	T	143624776	3	4	283	1	0	0	0	0	1	0	0	0	1298	759	27	1	4536	1	BAI1	8	143624776	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1118242	143624776	2739246	655	145937											
LY6E	4061	broad.mit.edu	37	chr8	144103050	144103050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgccccatcccagaaggCgtcaatgttggtgtggcttc	12	13	1	1	rs145193551		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144103050C>T	uc003yxn.2	+	4	394	c.240C>T	c.(238-240)GGC>GGT	p.G80G	LY6E_uc003yxm.2_Silent_p.G80G|LY6E_uc003yxo.2_RNA	NM_001127213	NP_001120685	Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E precursor	80	UPAR/Ly6.				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane					0	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCCAGAAGGCGTCAATGTTG	0.607													T	144103050	C	T	144103050	2	4	283	1	0	0	0	0	0	0	0	1	9091	755	27	1		1	LY6E	8	144103050	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	478274	144103050	2260972	656	145938											
ZNF707	286075	broad.mit.edu	37	chr8	144776320	144776320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgttcagcctgaaggacCgcctggctcagcaccgcaag	13	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144776320C>T	uc003yze.3	+	7	1051	c.736C>T	c.(736-738)CGC>TGC	p.R246C	ZNF707_uc010mfh.2_Missense_Mutation_p.R246C|ZNF707_uc010mfi.2_Missense_Mutation_p.R246C|ZNF707_uc003yzf.3_Missense_Mutation_p.R246C|ZNF707_uc003yzh.3_Missense_Mutation_p.R173C|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	246	C2H2-type 3.				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)			CCTGAAGGACCGCCTGGCTCA	0.627													T	144776320	C	T	144776320	3	4	283	1	0	0	0	0	1	0	0	0	18108	652	23	1	750	1	ZNF707	8	144776320	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	673270	144776320	1587702	657	145939											
FAM83H	286077	broad.mit.edu	37	chr8	144811446	144811446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggcctccagcacttcGctgagcaggtccacatcagt	11	16	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144811446G>A	uc003yzk.2	-	3	564	c.495C>T	c.(493-495)AGC>AGT	p.S165S	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	165					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			CCAGCACTTCGCTGAGCAGGT	0.637													A	144811446	G	A	144811446	2	1	283	1	0	0	0	0	0	0	0	1	5640	1078	38	1		1	FAM83H	8	144811446	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	35126	144811446	1552576	658	145940											
PLEC	5339	broad.mit.edu	37	chr8	144992352	144992352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaggtcagcttgcgggcGtccgacagtggcaggagcag	18	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:144992352G>A	uc003zaf.1	-	32	12218	c.12048C>T	c.(12046-12048)GAC>GAT	p.D4016D	PLEC_uc003zab.1_Silent_p.D3879D|PLEC_uc003zac.1_Silent_p.D3883D|PLEC_uc003zad.2_Silent_p.D3879D|PLEC_uc003zae.1_Silent_p.D3847D|PLEC_uc003zag.1_Silent_p.D3857D|PLEC_uc003zah.2_Silent_p.D3865D|PLEC_uc003zaj.2_Silent_p.D3906D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4016	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTTGCGGGCGTCCGACAGTG	0.697													A	144992352	G	A	144992352	2	1	283	1	0	0	0	0	0	0	0	1	12052	1136	40	1		1	PLEC	8	144992352	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	180906	144992352	1371670	659	145941											
PARP10	84875	broad.mit.edu	37	chr8	145051961	145051961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaccgacagggaggcGcgcctggcgaaatacacgcc	13	15	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145051961G>A	uc003zal.3	-	11	2877	c.2769C>T	c.(2767-2769)CGC>CGT	p.R923R	PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.3_Silent_p.R620R|PARP10_uc011lku.1_Silent_p.R935R|PARP10_uc011lkv.1_RNA	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	923	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	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)			ACAGGGAGGCGCGCCTGGCGA	0.716													A	145051961	G	A	145051961	2	1	283	1	0	0	0	0	0	0	0	1	11455	1074	38	1		1	PARP10	8	145051961	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	59609	145051961	1312061	660	145942											
DGAT1	8694	broad.mit.edu	37	chr8	145541660	145541660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtagcacaaggtgggggCgaagaggaagtagtagagat	17	5	0	2	rs144983092		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145541660C>T	uc003zbv.3	-	9	1040	c.772G>A	c.(772-774)GCC>ACC	p.A258T	DGAT1_uc010mfv.2_Intron	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	258	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	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)			AAGGTGGGGGCGAAGAGGAAG	0.622													T	145541660	C	T	145541660	3	4	283	1	0	0	0	0	1	0	0	0	4457	768	27	1	730	1	DGAT1	8	145541660	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	489699	145541660	822362	661	145943											
NFKBIL2	4796	broad.mit.edu	37	chr8	145666250	145666250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcagctcagcaaaacGcagctgggggcagtgccagt	14	12	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145666250G>A	uc011llg.1	-	9	1030	c.1015C>T	c.(1015-1017)CGT>TGT	p.R339C		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	339	TPR 7.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	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)			TCAGCAAAACGCAGCTGGGGG	0.677													A	145666250	G	A	145666250	3	1	283	1	0	0	0	0	1	0	0	0	10382	1087	38	1	3193	1	NFKBIL2	8	145666250	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	124590	145666250	697772	662	145944											
RECQL4	9401	broad.mit.edu	37	chr8	145737873	145737873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgaccatgtcaaacTccacggagctgctgccttgc	9	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:145737873T>C	uc003zdj.2	-	18	2989	c.2957A>G	c.(2956-2958)GAG>GGG	p.E986G		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	986					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)|lung(1)|skin(1)	4	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)			CATGTCAAACTCCACGGAGCT	0.647			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				C	145737873	T	C	145737873	3	2	283	1	0	0	0	0	1	0	0	0	13202	1551	54	3	689	3	RECQL4	8	145737873	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	71623	145737873	626149	663	145945											
ZNF250	58500	broad.mit.edu	37	chr8	146107413	146107413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcatagggcttctccccGgtgtgcacgttgtggtgctg	13	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr8:146107413G>A	uc003zeq.3	-	6	1287	c.1170C>T	c.(1168-1170)ACC>ACT	p.T390T	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.T385T|ZNF250_uc010mgg.2_Silent_p.T385T	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GCTTCTCCCCGGTGTGCACGT	0.592													A	146107413	G	A	146107413	2	1	283	1	0	0	0	0	0	0	0	1	17792	1103	39	1		1	ZNF250	8	146107413	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	369540	146107413	256609	664	145946											
SMARCA2	6595	broad.mit.edu	37	chr9	2181665	2181665	+	Frame_Shift_Del	DEL	A	A	-													ttaggaagccagtggatttcAaaaaaataaaggtagatatt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:2181665delA	uc003zhc.2	+	30	4447	c.4348delA	c.(4348-4350)AAAfs	p.K1450fs	SMARCA2_uc003zhd.2_Frame_Shift_Del_p.K1432fs|SMARCA2_uc010mha.2_Frame_Shift_Del_p.K1365fs|SMARCA2_uc011llw.1_Frame_Shift_Del_p.K136fs|SMARCA2_uc003zhf.2_Frame_Shift_Del_p.K114fs|SMARCA2_uc011llx.1_Frame_Shift_Del_p.K96fs|SMARCA2_uc003zhe.2_Frame_Shift_Del_p.K138fs|SMARCA2_uc003zhg.2_Frame_Shift_Del_p.K96fs|SMARCA2_uc010mhb.2_Frame_Shift_Del_p.K120fs	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1450	Bromo.				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			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGTGGATTTCAAAAAAATAAA	0.363													-	2181665	A	-	2181665	7	5	283	1	0	1	0	1	0	0	0	0	14769	131	5	0	4462	0	SMARCA2	9	2181665	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08		2181665	139031766	665	145947											
RFX3	5991	broad.mit.edu	37	chr9	3293099	3293099	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcccaatctcctggttcGtagccccataaaaattgatc	7	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:3293099G>A	uc003zhr.2	-	7	1021	c.709C>T	c.(709-711)CGA>TGA	p.R237*	RFX3_uc010mhd.2_Nonsense_Mutation_p.R237*|RFX3_uc003zhs.1_Nonsense_Mutation_p.R237*|RFX3_uc003zht.1_Nonsense_Mutation_p.R237*|RFX3_uc010mhe.1_Nonsense_Mutation_p.R212*	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	237	RFX-type winged-helix.				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			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCCTGGTTCGTAGCCCCATA	0.358													A	3293099	G	A	3293099	4	1	283	1	0	0	0	0	0	1	0	0	13264	1153	40	1	1744	1	RFX3	9	3293099	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1111434	3293099	137920332	666	145948											
GLIS3	169792	broad.mit.edu	37	chr9	4118134	4118134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcagaggagggagCggaggcgcggggggtaggtc	26	7	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:4118134C>T	uc003zhw.1	-	3	1073	c.879G>A	c.(877-879)CCG>CCA	p.P293P	GLIS3_uc003zhx.1_Silent_p.P448P|GLIS3_uc003zic.1_Silent_p.P448P|GLIS3_uc003zie.1_Silent_p.P448P|GLIS3_uc010mhh.1_Silent_p.P323P|GLIS3_uc003zid.1_Silent_p.P226P|GLIS3_uc010mhi.1_Silent_p.P255P|GLIS3_uc003zif.1_Silent_p.P226P|GLIS3_uc003zig.1_Silent_p.P292P|GLIS3_uc003zih.1_Silent_p.P226P|GLIS3_uc003zhy.1_Silent_p.P226P|GLIS3_uc003zhz.1_Silent_p.P226P|GLIS3_uc003zib.1_Silent_p.P292P|GLIS3_uc010mhg.1_Silent_p.P226P	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	293	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		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)		gaggagggagcggaggcgcgg	0.507													T	4118134	C	T	4118134	2	4	283	1	0	0	0	0	0	0	0	1	6447	755	27	1		1	GLIS3	9	4118134	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	825035	4118134	137095297	667	145949											
GLIS3	169792	broad.mit.edu	37	chr9	4118413	4118413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggaatgcagctgccGcgcacgcccaggaaatgccc	15	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:4118413G>A	uc003zhw.1	-	3	794	c.600C>T	c.(598-600)CGC>CGT	p.R200R	GLIS3_uc003zhx.1_Silent_p.R355R|GLIS3_uc003zic.1_Silent_p.R355R|GLIS3_uc003zie.1_Silent_p.R355R|GLIS3_uc010mhh.1_Silent_p.R230R|GLIS3_uc003zid.1_Silent_p.R133R|GLIS3_uc010mhi.1_Silent_p.R162R|GLIS3_uc003zif.1_Silent_p.R133R|GLIS3_uc003zig.1_Silent_p.R199R|GLIS3_uc003zih.1_Silent_p.R133R|GLIS3_uc003zhy.1_Silent_p.R133R|GLIS3_uc003zhz.1_Silent_p.R133R|GLIS3_uc003zib.1_Silent_p.R199R|GLIS3_uc010mhg.1_Silent_p.R133R	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	200					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			ovary(1)	1		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)		TGCAGCTGCCGCGCACGCCCA	0.736													A	4118413	G	A	4118413	2	1	283	1	0	0	0	0	0	0	0	1	6447	1074	38	1		1	GLIS3	9	4118413	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	279	4118413	137095018	668	145950											
GLIS3	169792	broad.mit.edu	37	chr9	4118512	4118512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaaggacgtgggcgaCgtgcggatgatggtattgaa	16	8	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:4118512C>T	uc003zhw.1	-	3	695	c.501G>A	c.(499-501)ACG>ACA	p.T167T	GLIS3_uc003zhx.1_Silent_p.T322T|GLIS3_uc003zic.1_Silent_p.T322T|GLIS3_uc003zie.1_Silent_p.T322T|GLIS3_uc010mhh.1_Silent_p.T197T|GLIS3_uc003zid.1_Silent_p.T100T|GLIS3_uc010mhi.1_Silent_p.T129T|GLIS3_uc003zif.1_Silent_p.T100T|GLIS3_uc003zig.1_Silent_p.T166T|GLIS3_uc003zih.1_Silent_p.T100T|GLIS3_uc003zhy.1_Silent_p.T100T|GLIS3_uc003zhz.1_Silent_p.T100T|GLIS3_uc003zib.1_Silent_p.T166T|GLIS3_uc010mhg.1_Silent_p.T100T	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	167					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			ovary(1)	1		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)		ACGTGGGCGACGTGCGGATGA	0.642													T	4118512	C	T	4118512	2	4	283	1	0	0	0	0	0	0	0	1	6447	523	19	1		1	GLIS3	9	4118512	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	99	4118512	137094919	669	145951											
PTPRD	5789	broad.mit.edu	37	chr9	8341799	8341799	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacttcggtatttccacaaGtcactgcttctaacagtgca	7	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:8341799G>C	uc003zkk.2	-	39	5552	c.4841C>G	c.(4840-4842)ACT>AGT	p.T1614S	PTPRD_uc003zkp.2_Missense_Mutation_p.T1208S|PTPRD_uc003zkq.2_Missense_Mutation_p.T1207S|PTPRD_uc003zkr.2_Missense_Mutation_p.T1198S|PTPRD_uc003zks.2_Missense_Mutation_p.T1207S|PTPRD_uc003zkl.2_Missense_Mutation_p.T1605S|PTPRD_uc003zkm.2_Missense_Mutation_p.T1601S|PTPRD_uc003zkn.2_Missense_Mutation_p.T1203S|PTPRD_uc003zko.2_Missense_Mutation_p.T1204S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1614	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		ATTTCCACAAGTCACTGCTTC	0.413										TSP Lung(15;0.13)			C	8341799	G	C	8341799	3	2	283	1	0	0	0	0	1	0	0	0	12799	1029	36	5	925	5	PTPRD	9	8341799	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4223287	8341799	132871632	670	145952											
FREM1	158326	broad.mit.edu	37	chr9	14806679	14806679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatacttatgccaatattgCttttttcaaaacccacagaa	3	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:14806679C>T	uc003zlm.2	-	18	3844	c.3254G>A	c.(3253-3255)AGC>AAC	p.S1085N	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1085	CSPG 7.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCAATATTGCTTTTTTCAAA	0.423													T	14806679	C	T	14806679	3	4	283	1	0	0	0	0	1	0	0	0	6044	797	28	2	3415	2	FREM1	9	14806679	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6464880	14806679	126406752	671	145953											
KIAA1797	54914	broad.mit.edu	37	chr9	20912931	20912931	+	Frame_Shift_Del	DEL	A	A	-													aacctgaggaggtgcagtacAaaaaaagcacagcctggctc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:20912931delA	uc003zog.1	+	25	3148	c.2785delA	c.(2785-2787)AAAfs	p.K929fs	KIAA1797_uc003zoh.1_Frame_Shift_Del_p.K365fs	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	929						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GGTGCAGTACAAAAAAAGCAC	0.438													-	20912931	A	-	20912931	7	5	283	1	0	1	0	1	0	0	0	0	8258	131	5	0	2871	0	KIAA1797	9	20912931	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	6106252	20912931	120300500	672	145954											
KIAA1797	54914	broad.mit.edu	37	chr9	20944746	20944746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgcacgtagatgacagCgggagccagagcagaacgtt	14	10	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:20944746C>T	uc003zog.1	+	31	3891	c.3528C>T	c.(3526-3528)AGC>AGT	p.S1176S	KIAA1797_uc003zoh.1_Silent_p.S612S	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1176						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TAGATGACAGCGGGAGCCAGA	0.502													T	20944746	C	T	20944746	2	4	283	1	0	0	0	0	0	0	0	1	8258	767	27	1		1	KIAA1797	9	20944746	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	31815	20944746	120268685	673	145955											
CDKN2A	1029	broad.mit.edu	37	chr9	21971132	21971132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggtcgggtgagagtggCggggtcggcgcagttgggct	22	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:21971132C>T	uc003zpk.2	-	2	438	c.226G>A	c.(226-228)GCC>ACC	p.A76T	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R131H	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	76					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 binding|protein kinase binding	p.0?(1112)|p.?(13)|p.A76V(3)|p.A76fs*70(2)|p.E61_L94del(1)|p.A76fs*64(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.A76T(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		GTGAGAGTGGCGGGGTCGGCG	0.711		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971132	C	T	21971132	3	4	283	1	0	0	0	0	1	0	0	0	3161	768	27	1	252	1	CDKN2A	9	21971132	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1026386	21971132	119242299	674	145956											
TEK	7010	broad.mit.edu	37	chr9	27212860	27212860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcacttcgctgccgacGtggcccggggcatggactac	12	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:27212860G>A	uc003zqi.3	+	17	3284	c.2842G>A	c.(2842-2844)GTG>ATG	p.V948M	TEK_uc011lno.1_Missense_Mutation_p.V905M|TEK_uc011lnp.1_Missense_Mutation_p.V800M	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	948	Protein kinase.|Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGCTGCCGACGTGGCCCGGGG	0.552													A	27212860	G	A	27212860	3	1	283	1	0	0	0	0	1	0	0	0	15748	1145	40	1	2908	1	TEK	9	27212860	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5241728	27212860	114000571	675	145957											
DNAJA1	3301	broad.mit.edu	37	chr9	33034284	33034286	+	In_Frame_Del	DEL	TAT	TAT	-													ccaggactggagccaggcgaTattatcattgtgttagatca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:33034283_33034285ATAT>A	uc003zsd.1	+	5	896_898	c.713_715ATAT>A	c.(712-717)gatatt>gAtt	p.I241del	DNAJA1_uc011lnt.1_In_Frame_Del_p.I84del|DNAJA1_uc003zse.1_In_Frame_Del_p.I241del	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	241					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)		GAGCCAGGCGATATTATCATTGT	0.369													-	33034286	TAT	-	33034284	7	5	283	1	0	1	0	1	0	0	0	0	4611	1403	49	0	732	0	DNAJA1	9	33034284	In_Frame_Del	DEL	TAT	TCGA-HU-A4H8-01A-11D-A25D-08	5821424	33034284	108179147	676	145958											
C9orf131	138724	broad.mit.edu	37	chr9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-													cttttgagcctccgatgccaCccccctgccaatccccagct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										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)			CTCCGATGCCACCCCCCTGCC	0.527													-	35043650	C	-	35043650	7	5	283	1	0	1	0	1	0	0	0	0	2457	507	18	0	1046	0	C9orf131	9	35043650	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	2009366	35043650	106169781	677	145959											
FANCG	2189	broad.mit.edu	37	chr9	35074153	35074153	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccgaaattcttcaaggaaGgcgtcacgatcagagggacg	13	9	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:35074153G>T	uc003zwb.1	-	14	2313	c.1821C>A	c.(1819-1821)GCC>GCA	p.A607A	VCP_uc003zvy.2_5'Flank|VCP_uc003zvz.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc003zwa.1_Silent_p.A349A|FANCG_uc010mkj.1_Silent_p.A349A	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	607			A -> T (in a colorectal cancer sample; somatic mutation).		cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.A607T(1)		ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTTCAAGGAAGGCGTCACGAT	0.512			Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				T	35074153	G	T	35074153	2	4	283	1	0	0	0	0	0	0	0	1	5668	987	35	5		5	FANCG	9	35074153	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	30503	35074153	106139278	678	145960											
TLN1	7094	broad.mit.edu	37	chr9	35711592	35711592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctctgcctcttcatacCggagcctggcctgccatctc	8	18	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:35711592C>T	uc003zxt.2	-	29	4233	c.3879G>A	c.(3877-3879)CCG>CCA	p.P1293P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1293					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			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTTCATACCGGAGCCTGGC	0.592													T	35711592	C	T	35711592	2	4	283	1	0	0	0	0	0	0	0	1	15944	666	23	1		1	TLN1	9	35711592	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	637439	35711592	105501839	679	145961											
CCIN	881	broad.mit.edu	37	chr9	36170043	36170043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacctgttatctttggcCgcctgctccgtgatgaaaac	9	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:36170043C>T	uc003zzb.3	+	1	655	c.544C>T	c.(544-546)CGC>TGC	p.R182C		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	182	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			TATCTTTGGCCGCCTGCTCCG	0.542													T	36170043	C	T	36170043	3	4	283	1	0	0	0	0	1	0	0	0	2878	652	23	1	546	1	CCIN	9	36170043	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	458451	36170043	105043388	680	145962											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	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			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478													G	70993145	A	G	70993145	3	3	283	1	0	0	0	0	1	0	0	0	11801	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	34823102	70993145	70220286	681	145963											
TJP2	9414	broad.mit.edu	37	chr9	71835953	71835953	+	Frame_Shift_Del	DEL	G	G	-													ggagccggctgaacagccatGgggggcgcagccgcagctgg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:71835953delG	uc004ahe.2	+	5	693	c.493delG	c.(493-495)GGGfs	p.G165fs	TJP2_uc011lrs.1_Frame_Shift_Del_p.G142fs|TJP2_uc004ahb.1_Frame_Shift_Del_p.G142fs|TJP2_uc011lrt.1_Frame_Shift_Del_p.G142fs|TJP2_uc004ahd.2_Frame_Shift_Del_p.G165fs|TJP2_uc004ahf.2_Frame_Shift_Del_p.G165fs|TJP2_uc011lru.1_Frame_Shift_Del_p.G169fs|TJP2_uc011lrv.1_Frame_Shift_Del_p.G187fs	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	165					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GAACAGCCATGGGGGGCGCAG	0.682													-	71835953	G	-	71835953	7	5	283	1	0	1	0	1	0	0	0	0	15927	1348	47	0	668	0	TJP2	9	71835953	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	842808	71835953	69377478	682	145964											
NOL8	55035	broad.mit.edu	37	chr9	95077084	95077084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccatggatatgatactgGgatcctcatgtttcatggaa	9	8	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:95077084G>T	uc004arv.2	-	7	2160	c.1823C>A	c.(1822-1824)CCC>CAC	p.P608H	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.P540H	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	608					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TATGATACTGGGATCCTCATG	0.413													T	95077084	G	T	95077084	3	4	283	1	0	0	0	0	1	0	0	0	10527	1232	43	5	1724	5	NOL8	9	95077084	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	23241131	95077084	46136347	683	145965											
BICD2	23299	broad.mit.edu	37	chr9	95481859	95481859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcccgccttttcccgCtccatctgcaaaggcacagg	10	16	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:95481859C>T	uc004aso.1	-	5	1125	c.1068G>A	c.(1066-1068)GAG>GAA	p.E356E	BICD2_uc004asp.1_Silent_p.E356E	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	356	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CCTTTTCCCGCTCCATCTGCA	0.622													T	95481859	C	T	95481859	2	4	283	1	0	0	0	0	0	0	0	1	1429	796	28	2		2	BICD2	9	95481859	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	404775	95481859	45731572	684	145966											
WNK2	65268	broad.mit.edu	37	chr9	96051495	96051495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcccagcccccacagcGggaccccacagcccgccttg	10	21	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96051495G>A	uc004ati.1	+	20	4570	c.4570G>A	c.(4570-4572)GGG>AGG	p.G1524R	WNK2_uc011lud.1_Missense_Mutation_p.G1487R|WNK2_uc004atj.2_Missense_Mutation_p.G1487R|WNK2_uc004atk.2_Missense_Mutation_p.G1124R|WNK2_uc004atl.1_Missense_Mutation_p.G82R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1524					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCCCCACAGCGGGACCCCACA	0.711													A	96051495	G	A	96051495	3	1	283	1	0	0	0	0	1	0	0	0	17375	1116	39	1	4533	1	WNK2	9	96051495	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	569636	96051495	45161936	685	145967											
PHF2	5253	broad.mit.edu	37	chr9	96422584	96422584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccattgaggccaccccGcctcaatccctcctggagaa	7	18	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96422584G>A	uc004aub.2	+	12	1587	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P	PHF2_uc011lug.1_Silent_p.P363P|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	480	Pro-rich.				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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGGCCACCCCGCCTCAATCCC	0.488													A	96422584	G	A	96422584	2	1	283	1	0	0	0	0	0	0	0	1	11830	1074	38	1		1	PHF2	9	96422584	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	371089	96422584	44790847	686	145968			1	64		3	3	59	N	G_C_A	3.467234e-06
PHF2	5253	broad.mit.edu	37	chr9	96422621	96422621	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgtccaaaaaaaagActcccaaaactgtgaagatg	8	7	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96422621A>G	uc004aub.2	+	12	1624	c.1477A>G	c.(1477-1479)ACT>GCT	p.T493A	PHF2_uc011lug.1_Missense_Mutation_p.T376A|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	493	Pro-rich.|Lys-rich.				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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAAAAAAAAGACTCCCAAAAC	0.433													G	96422621	A	G	96422621	3	3	283	1	0	0	0	0	1	0	0	0	11830	275	10	3	1523	3	PHF2	9	96422621	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	37	96422621	44790810	687	145969			1	64		3	3	59	N	G_C_A	3.467234e-06
PHF2	5253	broad.mit.edu	37	chr9	96422642	96422642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaaaactgtgaagatgCccaagccatccaaaatcccc	5	16	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:96422642C>A	uc004aub.2	+	12	1645	c.1498C>A	c.(1498-1500)CCC>ACC	p.P500T	PHF2_uc011lug.1_Missense_Mutation_p.P383T|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	500	Pro-rich.|Lys-rich.				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			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTGAAGATGCCCAAGCCATC	0.418													A	96422642	C	A	96422642	3	1	283	1	0	0	0	0	1	0	0	0	11830	739	26	5	1544	5	PHF2	9	96422642	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	21	96422642	44790789	688	145970			1	64		3	3	59	N	G_C_A	3.467234e-06
PTCH1	5727	broad.mit.edu	37	chr9	98209302	98209302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgtggaaaggcacgtgGgggtcctcaaacaggccgtg	17	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:98209302G>A	uc004avk.3	-	23	4424	c.4236C>T	c.(4234-4236)CCC>CCT	p.P1412P	PTCH1_uc010mrn.2_Silent_p.P204P|PTCH1_uc010mro.2_Silent_p.P1261P|PTCH1_uc010mrp.2_Silent_p.P1261P|PTCH1_uc010mrq.2_Silent_p.P1261P|PTCH1_uc004avl.3_Silent_p.P1261P|PTCH1_uc010mrr.2_Silent_p.P1346P|PTCH1_uc004avm.3_Silent_p.P1411P	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1412	Cytoplasmic (Potential).				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			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGGCACGTGGGGGTCCTCAA	0.667									Basal_Cell_Nevus_syndrome				A	98209302	G	A	98209302	2	1	283	1	0	0	0	0	0	0	0	1	12730	1219	43	4		4	PTCH1	9	98209302	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1786660	98209302	43004129	689	145971											
KIAA1529	57653	broad.mit.edu	37	chr9	100124588	100124588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaggcaggggctggtgGtgctgtgtgctcacctcctg	17	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:100124588G>A	uc011lut.1	+	40	5089	c.4316G>A	c.(4315-4317)GGT>GAT	p.G1439D	KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Missense_Mutation_p.G1300D|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GGGGCTGGTGGTGCTGTGTGC	0.602													A	100124588	G	A	100124588	3	1	283	1	0	0	0	0	1	0	0	0	8240	1276	44	4		4	KIAA1529	9	100124588	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1915286	100124588	41088843	690	145972											
TRIM14	9830	broad.mit.edu	37	chr9	100850119	100850119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaacctcccagtagtggCggccggtggcgaagcagtca	14	13	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:100850119C>T	uc004ayd.2	-	6	980	c.962G>A	c.(961-963)CGC>CAC	p.R321H	TRIM14_uc004ayf.1_Missense_Mutation_p.R228H|TRIM14_uc011luz.1_Missense_Mutation_p.R99H|TRIM14_uc011lva.1_Missense_Mutation_p.R102H|TRIM14_uc004ayg.1_Missense_Mutation_p.R321H|TRIM14_uc004ayh.1_Missense_Mutation_p.R321H|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.R228H	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	321	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCAGTAGTGGCGGCCGGTGGC	0.627													T	100850119	C	T	100850119	3	4	283	1	0	0	0	0	1	0	0	0	16486	768	27	1	370	1	TRIM14	9	100850119	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	725531	100850119	40363312	691	145973											
GABBR2	9568	broad.mit.edu	37	chr9	101470716	101470716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctccgtgtcatagagccGcaggtcgaggaagtaggggc	15	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:101470716G>A	uc004ays.2	-	1	460	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	102	Extracellular (Potential).				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			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCATAGAGCCGCAGGTCGAGG	0.677													A	101470716	G	A	101470716	3	1	283	1	0	0	0	0	1	0	0	0	6156	1086	38	1	2597	1	GABBR2	9	101470716	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	620597	101470716	39742715	692	145974											
PPP3R2	5535	broad.mit.edu	37	chr9	104357038	104357038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgtcgatcactcgccGcaccaacgggttgtggcgca	13	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:104357038G>A	uc004bbr.2	-	1	246	c.175C>T	c.(175-177)CGG>TGG	p.R59W	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	56	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	ATCACTCGCCGCACCAACGGG	0.582													A	104357038	G	A	104357038	3	1	283	1	0	0	0	0	1	0	0	0	12401	1086	38	1	350	1	PPP3R2	9	104357038	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2886322	104357038	36856393	693	145975											
SVEP1	79987	broad.mit.edu	37	chr9	113341460	113341460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaaggtcacgatggccaCgcgcgtggccgtgggcacca	16	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:113341460C>T	uc010mtz.2	-	1	701	c.364G>A	c.(364-366)GTG>ATG	p.V122M	SVEP1_uc010mua.1_Missense_Mutation_p.V122M|SVEP1_uc004beu.2_Missense_Mutation_p.V122M|uc004bew.1_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	122	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ACGATGGCCACGCGCGTGGCC	0.652													T	113341460	C	T	113341460	3	4	283	1	0	0	0	0	1	0	0	0	15417	536	19	1	10543	1	SVEP1	9	113341460	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	8984422	113341460	27871971	694	145976											
SLC46A2	57864	broad.mit.edu	37	chr9	115652385	115652385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatctgcttgaagagatGcccggaagccatgctcccgc	11	14	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:115652385G>A	uc004bgk.2	-	1	809	c.577C>T	c.(577-579)CAT>TAT	p.H193Y		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	193	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						TTGAAGAGATGCCCGGAAGCC	0.642													A	115652385	G	A	115652385	3	1	283	1	0	0	0	0	1	0	0	0	14645	1319	46	2	866	2	SLC46A2	9	115652385	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2310925	115652385	25561046	695	145977											
AMBP	259	broad.mit.edu	37	chr9	116836367	116836367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggcggctgaatttcttggTcaggaaaatggcatactcat	11	7	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:116836367T>A	uc004bie.3	-	4	666	c.403A>T	c.(403-405)ACC>TCC	p.T135S	AMBP_uc011lxk.1_Missense_Mutation_p.T76S|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	135					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AATTTCTTGGTCAGGAAAATG	0.498													A	116836367	T	A	116836367	3	1	283	1	0	0	0	0	1	0	0	0	564	1667	58	5	683	5	AMBP	9	116836367	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1183982	116836367	24377064	696	145978											
PAPPA	5069	broad.mit.edu	37	chr9	118949583	118949583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaccatcaatgcccaccGcagctacctcccaggccagt	7	19	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:118949583G>A	uc004bjn.2	+	2	947	c.566G>A	c.(565-567)CGC>CAC	p.R189H	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.1_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	189					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AATGCCCACCGCAGCTACCTC	0.552													A	118949583	G	A	118949583	3	1	283	1	0	0	0	0	1	0	0	0	11432	1087	38	1	572	1	PAPPA	9	118949583	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2113216	118949583	22263848	697	145979											
CEP110	11064	broad.mit.edu	37	chr9	123924525	123924525	+	Frame_Shift_Del	DEL	A	A	-													agagaaatgtgacatttgggAaaaaaagttggcacaaacca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:123924525delA	uc004bkx.1	+	32	5430	c.5399delA	c.(5398-5400)GAAfs	p.E1800fs	CEP110_uc004blb.1_Frame_Shift_Del_p.E469fs|CEP110_uc010mvp.1_Intron	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1800	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GACATTTGGGAAAAAAAGTTG	0.383													-	123924525	A	-	123924525	7	5	283	1	0	1	0	1	0	0	0	0	3245	246	9	0	5525	0	CEP110	9	123924525	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	4974942	123924525	17288906	698	145980											
GSN	2934	broad.mit.edu	37	chr9	124072991	124072991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcatcaggattcaagcaCgtggtacccaacgaggtggt	14	9	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:124072991C>T	uc004blf.1	+	4	595	c.534C>T	c.(532-534)CAC>CAT	p.H178H	GSN_uc004bld.1_Silent_p.H127H|GSN_uc010mvq.1_Silent_p.H138H|GSN_uc010mvr.1_Silent_p.H138H|GSN_uc010mvu.1_Silent_p.H127H|GSN_uc010mvt.1_Silent_p.H127H|GSN_uc010mvs.1_Silent_p.H127H|GSN_uc004ble.1_Silent_p.H127H|GSN_uc010mvv.1_Silent_p.H127H|GSN_uc011lyh.1_Silent_p.H144H|GSN_uc011lyi.1_Silent_p.H127H|GSN_uc011lyj.1_Silent_p.H151H|GSN_uc004blg.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	178					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						GATTCAAGCACGTGGTACCCA	0.582													T	124072991	C	T	124072991	2	4	283	1	0	0	0	0	0	0	0	1	6825	535	19	1		1	GSN	9	124072991	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	148466	124072991	17140440	699	145981											
GSN	2934	broad.mit.edu	37	chr9	124089585	124089585	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccaagctgtaccctcccaGgtattgcctaaggctggtgc	10	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:124089585G>T	uc004blf.1	+	13	1802	c.1741_splice	c.e13-1	p.V581_splice	GSN_uc004bld.1_Splice_Site_p.V530_splice|GSN_uc010mvq.1_Splice_Site_p.V541_splice|GSN_uc010mvr.1_Splice_Site_p.V541_splice|GSN_uc010mvu.1_Splice_Site_p.V530_splice|GSN_uc010mvt.1_Splice_Site_p.V530_splice|GSN_uc010mvs.1_Splice_Site_p.V530_splice|GSN_uc004ble.1_Splice_Site_p.V530_splice|GSN_uc010mvv.1_Splice_Site_p.V530_splice|GSN_uc011lyh.1_Splice_Site_p.V547_splice|GSN_uc011lyi.1_Splice_Site_p.V530_splice|GSN_uc011lyj.1_Splice_Site_p.V554_splice|GSN_uc004blg.1_Splice_Site_p.V312_splice	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						TACCCTCCCAGGTATTGCCTA	0.592													T	124089585	G	T	124089585	5	4	283	1	0	0	0	0	0	0	1	0	6825	1014	35	5	1818	5	GSN	9	124089585	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	16594	124089585	17123846	700	145982											
PTGS1	5742	broad.mit.edu	37	chr9	125140230	125140230	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggcatctgtgtccgcttCggccttgaccgctaccagtg	12	14	1	1	rs138230380		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:125140230C>T	uc004bmg.1	+	3	282	c.147C>T	c.(145-147)TTC>TTT	p.F49F	PTGS1_uc011lys.1_Silent_p.F24F|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.F49F|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	49	EGF-like.				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			ovary(1)|skin(1)	2					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)	GTGTCCGCTTCGGCCTTGACC	0.597													T	125140230	C	T	125140230	2	4	283	1	0	0	0	0	0	0	0	1	12755	883	31	1		1	PTGS1	9	125140230	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1050645	125140230	16073201	701	145983											
DENND1A	57706	broad.mit.edu	37	chr9	126392754	126392754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccgtggatgcaggcagtcAgctggaacagagcaaagcag	14	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:126392754A>G	uc004bnz.1	-	10	853	c.620T>C	c.(619-621)CTG>CCG	p.L207P	DENND1A_uc011lzl.1_Missense_Mutation_p.L24P|DENND1A_uc004bny.1_Missense_Mutation_p.L24P|DENND1A_uc011lzm.1_Missense_Mutation_p.L175P|DENND1A_uc004boa.1_Missense_Mutation_p.L207P|DENND1A_uc004bob.1_Missense_Mutation_p.L177P|DENND1A_uc004boc.2_Missense_Mutation_p.L175P	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	207	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						GCAGGCAGTCAGCTGGAACAG	0.507													G	126392754	A	G	126392754	3	3	283	1	0	0	0	0	1	0	0	0	4426	202	7	3	2568	3	DENND1A	9	126392754	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1252524	126392754	14820677	702	145984											
NEK6	10783	broad.mit.edu	37	chr9	127110068	127110068	+	Frame_Shift_Del	DEL	C	C	-													aagatcgagcagtgtgactaCcccccactccccggggagca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:127110067_127110067AC>A	uc004boh.3	+	9	1160	c.899_899AC>A	c.(898-900)tacfs	p.Y300fs	NEK6_uc004bof.3_Frame_Shift_Del_p.Y284fs|NEK6_uc004bog.3_Frame_Shift_Del_p.Y266fs|NEK6_uc010mwk.3_Frame_Shift_Del_p.Y266fs|NEK6_uc022bnf.1_Frame_Shift_Del_p.Y300fs|NEK6_uc004boi.3_Frame_Shift_Del_p.Y266fs|NEK6_uc022bng.1_Frame_Shift_Del_p.Y291fs	NM_001145001	NP_055212	Q9HC98	NEK6_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA.	266	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	p.Y259C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CAGTGTGACTACCCCCCACTC	0.617													-	127110068	C	-	127110068	7	5	283	1	0	1	0	1	0	0	0	0	10328	518	18	0	1013	0	NEK6	9	127110068	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	717314	127110068	14103363	703	145985											
OLFML2A	169611	broad.mit.edu	37	chr9	127566419	127566419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcaactgccgcccaaGgtggagggcaggtccaactc	14	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:127566419G>T	uc004bov.2	+	6	1079	c.966G>T	c.(964-966)AAG>AAT	p.K322N	OLFML2A_uc010mwr.1_Missense_Mutation_p.K286N|OLFML2A_uc004bow.2_Missense_Mutation_p.K108N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	322											0						TGCCGCCCAAGGTGGAGGGCA	0.642													T	127566419	G	T	127566419	3	4	283	1	0	0	0	0	1	0	0	0	10857	991	35	5	988	5	OLFML2A	9	127566419	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	456351	127566419	13647012	704	145986											
RPL12	6136	broad.mit.edu	37	chr9	130211929	130211929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagtttcactgtaatcCtcaggcccttccagtcaccc	7	15	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130211929C>T	uc004bqy.1	-	3	258	c.170G>A	c.(169-171)AGG>AAG	p.R57K	RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Intron|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.1_5'Flank|LRSAM1_uc010mxk.1_5'Flank|LRSAM1_uc004brc.1_5'Flank|LRSAM1_uc004brd.1_5'Flank	NM_000976	NP_000967	P30050	RL12_HUMAN	ribosomal protein L12	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						CACTGTAATCCTCAGGCCCTT	0.502													T	130211929	C	T	130211929	3	4	283	1	0	0	0	0	1	0	0	0	13558	681	24	4	347	4	RPL12	9	130211929	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2645510	130211929	11001502	705	145987											
C9orf117	286207	broad.mit.edu	37	chr9	130475026	130475026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtgacgttgacgtgacGttccagccatggcacaagga	13	10	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130475026G>A	uc004brn.1	+	7	1216	c.1176G>A	c.(1174-1176)ACG>ACA	p.T392T	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	392											0						TTGACGTGACGTTCCAGCCAT	0.622													A	130475026	G	A	130475026	2	1	283	1	0	0	0	0	0	0	0	1	2451	1132	40	1		1	C9orf117	9	130475026	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	263097	130475026	10738405	706	145988											
NAIF1	203245	broad.mit.edu	37	chr9	130829272	130829272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccaggggtaccccggCgttgaagtggttcaccagca	16	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130829272C>T	uc004bta.2	-	1	328	c.109G>A	c.(109-111)GCC>ACC	p.A37T	NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	37	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus					0						GGTACCCCGGCGTTGAAGTGG	0.612													T	130829272	C	T	130829272	3	4	283	1	0	0	0	0	1	0	0	0	10146	768	27	1	882	1	NAIF1	9	130829272	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	354246	130829272	10384159	707	145989											
PTGES2	80142	broad.mit.edu	37	chr9	130885323	130885323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacaatgtagtcaaaggaCgccagagcctcggtgggcgt	15	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:130885323C>T	uc004bti.2	-	5	1255	c.777G>A	c.(775-777)GCG>GCA	p.A259A	PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Silent_p.A68A|PTGES2_uc004btl.2_Silent_p.A68A|PTGES2_uc004btm.2_RNA	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	259	Cytoplasmic (Potential).				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity				0						AGTCAAAGGACGCCAGAGCCT	0.642													T	130885323	C	T	130885323	2	4	283	1	0	0	0	0	0	0	0	1	12747	523	19	1		1	PTGES2	9	130885323	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	56051	130885323	10328108	708	145990											
SLC27A4	10999	broad.mit.edu	37	chr9	131107438	131107438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgttcacacacagtggcGgcctggtcctcctgaaggtg	12	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131107438G>A	uc004but.2	+	3	450	c.166G>A	c.(166-168)GGC>AGC	p.G56S	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	56					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						ACACAGTGGCGGCCTGGTCCT	0.632													A	131107438	G	A	131107438	3	1	283	1	0	0	0	0	1	0	0	0	14528	1116	39	1	172	1	SLC27A4	9	131107438	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	222115	131107438	10105993	709	145991											
SLC27A4	10999	broad.mit.edu	37	chr9	131112647	131112649	+	In_Frame_Del	DEL	GTG	GTG	-													ggctgcccaaggccgccatcGtggtgcacagcaggtaaggg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131112647_131112649delGTG	uc004but.2	+	5	1056_1058	c.772_774delGTG	c.(772-774)GTGdel	p.V259del	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	259					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						GGCCGCCATCGTGGTGCACAGCA	0.635													-	131112649	GTG	-	131112647	7	5	283	1	0	1	0	1	0	0	0	0	14528	1145	40	0	786	0	SLC27A4	9	131112647	In_Frame_Del	DEL	GTG	TCGA-HU-A4H8-01A-11D-A25D-08	5209	131112647	10100784	710	145992											
SPTAN1	6709	broad.mit.edu	37	chr9	131392621	131392621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtatggtggaagagtcGgggaccctcgaatcccagct	13	11	0	1	rs140856932		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131392621G>A	uc004bvl.3	+	51	6827	c.6714G>A	c.(6712-6714)TCG>TCA	p.S2238S	SPTAN1_uc004bvm.3_Silent_p.S2243S|SPTAN1_uc004bvn.3_Silent_p.S2218S|SPTAN1_uc004bvo.3_Silent_p.S5S|SPTAN1_uc004bvp.3_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2238	Spectrin 23.				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			breast(5)|ovary(4)|pancreas(1)	10						TGGAAGAGTCGGGGACCCTCG	0.597													A	131392621	G	A	131392621	2	1	283	1	0	0	0	0	0	0	0	1	15116	1103	39	1		1	SPTAN1	9	131392621	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	279974	131392621	9820810	711	145993											
DOLK	22845	broad.mit.edu	37	chr9	131708898	131708898	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taccatccctactaccaccaCcagcaggaagaagtccactg	6	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:131708898C>G	uc004bwr.2	-	1	1115	c.685G>C	c.(685-687)GTG>CTG	p.V229L	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	229	Helical; (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						ACTACCACCACCAGCAGGAAG	0.532													G	131708898	C	G	131708898	3	3	283	1	0	0	0	0	1	0	0	0	4703	507	18	5	935	5	DOLK	9	131708898	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	316277	131708898	9504533	712	145994											
C9orf50	375759	broad.mit.edu	37	chr9	132382797	132382797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggaagtctccgtcgccAgggagccccttgggcgccag	15	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:132382797A>G	uc004byc.3	-	1	259	c.57T>C	c.(55-57)CCT>CCC	p.P19P	C9orf50_uc004byb.3_Intron	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	19										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				CTCCGTCGCCAGGGAGCCCCT	0.751													G	132382797	A	G	132382797	2	3	283	1	0	0	0	0	0	0	0	1	2487	175	7	3		3	C9orf50	9	132382797	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	673899	132382797	8830634	713	145995											
NUP214	8021	broad.mit.edu	37	chr9	134027125	134027125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgtactttttctagtcGcttcatggagatataagtag	8	5	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:134027125G>A	uc004cag.2	+	17	2391	c.2280G>A	c.(2278-2280)TCG>TCA	p.S760S	NUP214_uc004cah.2_Silent_p.S750S|NUP214_uc004cai.2_Silent_p.S190S|NUP214_uc004caf.1_Silent_p.S749S|NUP214_uc010mzf.2_Silent_p.S58S	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	760	Leucine-zipper 1.|11 X 5 AA approximate repeats.				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			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTTCTAGTCGCTTCATGGAG	0.393			T	DEK|SET|ABL1	AML|T-ALL								A	134027125	G	A	134027125	2	1	283	1	0	0	0	0	0	0	0	1	10762	1074	38	1		1	NUP214	9	134027125	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1644328	134027125	7186306	714	145996											
POMT1	10585	broad.mit.edu	37	chr9	134387493	134387493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccccttcaaagatgtcaAtaactggtggattgtaaagg	9	7	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:134387493A>G	uc004cav.2	+	11	1320	c.1118A>G	c.(1117-1119)AAT>AGT	p.N373S	POMT1_uc004cax.2_Missense_Mutation_p.N351S|POMT1_uc011mcj.1_Missense_Mutation_p.N129S|POMT1_uc004cau.2_Missense_Mutation_p.N351S|POMT1_uc004caw.2_Missense_Mutation_p.N297S|POMT1_uc011mck.1_Missense_Mutation_p.N234S|POMT1_uc011mcl.1_Missense_Mutation_p.N199S|POMT1_uc011mcm.1_Missense_Mutation_p.N321S|POMT1_uc011mcn.1_Missense_Mutation_p.N76S	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	373	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAAGATGTCAATAACTGGTGG	0.532													G	134387493	A	G	134387493	3	3	283	1	0	0	0	0	1	0	0	0	12245	101	4	3	1156	3	POMT1	9	134387493	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	360368	134387493	6825938	715	145997											
BARHL1	56751	broad.mit.edu	37	chr9	135464717	135464717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgccttatttctacccGcagagtctggtttccaacct	7	15	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:135464717G>A	uc004cbp.1	+	3	984	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	264						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ATTTCTACCCGCAGAGTCTGG	0.662													A	135464717	G	A	135464717	2	1	283	1	0	0	0	0	0	0	0	1	1313	1074	38	1		1	BARHL1	9	135464717	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1077224	135464717	5748714	716	145998											
BRD3	8019	broad.mit.edu	37	chr9	136913440	136913440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggaggcttgatggggCggccaccactctcccgccgg	15	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:136913440C>T	uc004cew.2	-	6	1039	c.851G>A	c.(850-852)CGC>CAC	p.R284H	BRD3_uc004cex.2_Missense_Mutation_p.R284H	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	284						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTTGATGGGGCGGCCACCACT	0.682			T	NUT|C15orf55	lethal midline carcinoma of young people								T	136913440	C	T	136913440	3	4	283	1	0	0	0	0	1	0	0	0	1503	768	27	1	1357	1	BRD3	9	136913440	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1448723	136913440	4299991	717	145999											
MRPS2	51116	broad.mit.edu	37	chr9	138393760	138393760	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcaaggaactgttttcCgtgagaagcctcttcgatgc	10	9	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:138393760C>A	uc004cfv.3	+	3	314	c.240C>A	c.(238-240)TCC>TCA	p.S80S	C9orf116_uc004cfs.1_5'Flank|C9orf116_uc004cft.1_5'Flank|C9orf116_uc004cfu.1_5'Flank|MRPS2_uc004cfw.3_5'UTR|MRPS2_uc004cfx.3_5'UTR|MRPS2_uc010nat.2_Silent_p.S61S	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	80					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AACTGTTTTCCGTGAGAAGCC	0.562													A	138393760	C	A	138393760	2	1	283	1	0	0	0	0	0	0	0	1	9831	639	23	5		5	MRPS2	9	138393760	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1480320	138393760	2819671	718	146000											
UBAC1	10422	broad.mit.edu	37	chr9	138837033	138837033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcttggccaggaagaggCgtgtctatggtcgggtcttc	17	8	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:138837033C>T	uc004cgt.2	-	7	935	c.717G>A	c.(715-717)ACG>ACA	p.T239T	UBAC1_uc004cgs.1_Silent_p.T239T|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	239						Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CAGGAAGAGGCGTGTCTATGG	0.632													T	138837033	C	T	138837033	2	4	283	1	0	0	0	0	0	0	0	1	16831	755	27	1		1	UBAC1	9	138837033	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	443273	138837033	2376398	719	146001											
QSOX2	169714	broad.mit.edu	37	chr9	139100961	139100961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctggtctgcggaataCgtgtctaagaggttgtcgcg	13	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139100961C>T	uc010nbi.2	-	12	1748	c.1710G>A	c.(1708-1710)ACG>ACA	p.T570T		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	570					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTGCGGAATACGTGTCTAAGA	0.577													T	139100961	C	T	139100961	2	4	283	1	0	0	0	0	0	0	0	1	12884	523	19	1		1	QSOX2	9	139100961	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	263928	139100961	2112470	720	146002											
GPSM1	26086	broad.mit.edu	37	chr9	139243180	139243180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggacgcagaggctgagCgcggagacctgggacctgct	17	10	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139243180C>T	uc004chd.2	+	10	1459	c.1239C>T	c.(1237-1239)AGC>AGT	p.S413S		NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	413	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		AGAGGCTGAGCGCGGAGACCT	0.692													T	139243180	C	T	139243180	2	4	283	1	0	0	0	0	0	0	0	1	6734	767	27	1		1	GPSM1	9	139243180	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	142219	139243180	1970251	721	146003											
SEC16A	9919	broad.mit.edu	37	chr9	139371886	139371886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggtgtactttggagcGcctgtctactaaaagcaaat	10	9	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139371886G>A	uc004chx.2	-	3	491	c.182C>T	c.(181-183)GCG>GTG	p.A61V	SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Missense_Mutation_p.A61V|SEC16A_uc010nbn.2_Missense_Mutation_p.A61V|SEC16A_uc010nbo.1_Missense_Mutation_p.A61V	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACTTTGGAGCGCCTGTCTACT	0.557													A	139371886	G	A	139371886	3	1	283	1	0	0	0	0	1	0	0	0	13986	1087	38	1	7011	1	SEC16A	9	139371886	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	128706	139371886	1841545	722	146004											
AGPAT2	10555	broad.mit.edu	37	chr9	139571949	139571949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcctgcgcgggtccCgcacctcgaagcggagcccg	14	18	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:139571949C>T	uc004cii.1	-	2	344	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	AGPAT2_uc004cij.1_Missense_Mutation_p.R81Q	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	81					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				0	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)		GCGCGGGTCCCGCACCTCGAA	0.642													T	139571949	C	T	139571949	3	4	283	1	0	0	0	0	1	0	0	0	387	652	23	1	614	1	AGPAT2	9	139571949	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	200063	139571949	1641482	723	146005											
C9orf173	441476	broad.mit.edu	37	chr9	140147654	140147654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtcatccagggtgtacGcagacccaagcgccacgaca	12	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:140147654G>A	uc004cmk.1	+	6	909	c.897G>A	c.(895-897)ACG>ACA	p.T299T	C9orf173_uc004cmj.1_Missense_Mutation_p.R295H|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.R239H|C9orf173_uc004cml.1_Silent_p.T244T|COBRA1_uc004cmm.3_5'Flank			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	303										pancreas(1)	1						CAGGGTGTACGCAGACCCAAG	0.672													A	140147654	G	A	140147654	2	1	283	1	0	0	0	0	0	0	0	1	2472	1087	38	1		1	C9orf173	9	140147654	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	575705	140147654	1065777	724	146006											
PNPLA7	375775	broad.mit.edu	37	chr9	140437253	140437253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaaagtggcccaggacCctgcaagagccagagggcac	12	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:140437253C>T	uc004cnf.2	-	6	769	c.432G>A	c.(430-432)CGG>CGA	p.R144R	PNPLA7_uc010ncj.1_Silent_p.R169R	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	144					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGCCCAGGACCCTGCAAGAGC	0.627													T	140437253	C	T	140437253	2	4	283	1	0	0	0	0	0	0	0	1	12170	637	22	4		4	PNPLA7	9	140437253	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	289599	140437253	776178	725	146007											
CACNA1B	774	broad.mit.edu	37	chr9	140846799	140846799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcggctccttcttcaTgctcaacctggtgctgggcg	10	14	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr9:140846799T>C	uc004cog.2	+	7	1185	c.1040T>C	c.(1039-1041)ATG>ACG	p.M347T		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	347	Helical; Name=S6 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTTCTTCATGCTCAACCTG	0.587													C	140846799	T	C	140846799	3	2	283	1	0	0	0	0	1	0	0	0	2539	1464	51	3	1066	3	CACNA1B	9	140846799	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	409546	140846799	366632	726	146008											
ZMYND11	10771	broad.mit.edu	37	chr10	298396	298396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagcacaagcgcacctgcCgccggaaaagatgaagctgg	14	12	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:298396C>T	uc010pzt.1	+	15	2223	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	ZMYND11_uc010pzu.1_Missense_Mutation_p.R599C|ZMYND11_uc010pzv.1_Missense_Mutation_p.R544C|ZMYND11_uc010pzw.1_Missense_Mutation_p.R514C|ZMYND11_uc001ifm.2_Missense_Mutation_p.R545C|ZMYND11_uc009xhg.2_Missense_Mutation_p.R582C|ZMYND11_uc009xhh.2_Missense_Mutation_p.R473C|ZMYND11_uc010pzy.1_Missense_Mutation_p.R451C	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	559					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGCACCTGCCGCCGGAAAAG	0.537													T	298396	C	T	298396	3	4	283	1	0	0	0	0	1	0	0	0	17703	652	23	1	1870	1	ZMYND11	10	298396	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		298396	135236351	727	146009											
PFKP	5214	broad.mit.edu	37	chr10	3151664	3151664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccgctgatggagtgcGtgcagatggtgagtgggcag	19	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:3151664G>A	uc001igp.2	+	10	1117	c.1081G>A	c.(1081-1083)GTG>ATG	p.V361M	PFKP_uc001igq.2_Missense_Mutation_p.V353M|PFKP_uc009xhr.2_Missense_Mutation_p.V323M|PFKP_uc009xhs.1_Missense_Mutation_p.V145M|PFKP_uc009xht.2_Missense_Mutation_p.V99M	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	361					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GATGGAGTGCGTGCAGATGGT	0.667													A	3151664	G	A	3151664	3	1	283	1	0	0	0	0	1	0	0	0	11766	1145	40	1	1119	1	PFKP	10	3151664	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2853268	3151664	132383083	728	146010											
PFKP	5214	broad.mit.edu	37	chr10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-													tgtggctacctggccaacatGggggggctcgcggccggagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637													-	3172106	G	-	3172106	7	5	283	1	0	1	0	1	0	0	0	0	11766	1348	47	0	1845	0	PFKP	10	3172106	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	20442	3172106	132362641	729	146011											
SFMBT2	57713	broad.mit.edu	37	chr10	7409683	7409683	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaatccgcgatgactacgtCacaccagaagtcggccctgc	9	15	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:7409683C>T	uc009xio.1	-	4	455	c.364G>A	c.(364-366)GAC>AAC	p.D122N	SFMBT2_uc001ijn.1_Missense_Mutation_p.D122N|SFMBT2_uc010qay.1_Missense_Mutation_p.D122N|SFMBT2_uc001ijo.1_Missense_Mutation_p.D122N	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	122	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						ATGACTACGTCACACCAGAAG	0.607													T	7409683	C	T	7409683	3	4	283	1	0	0	0	0	1	0	0	0	14158	826	29	4	2392	4	SFMBT2	10	7409683	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4237577	7409683	128125064	730	146012											
ITIH5	80760	broad.mit.edu	37	chr10	7618941	7618941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggataatcgatgcggatgtCagagaggagcggggtcctga	18	6	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:7618941C>T	uc001ijq.2	-	10	1532	c.1453G>A	c.(1453-1455)GAC>AAC	p.D485N	ITIH5_uc001ijp.2_Missense_Mutation_p.D271N|ITIH5_uc001ijr.1_Missense_Mutation_p.D485N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	485					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						ATGCGGATGTCAGAGAGGAGC	0.587													T	7618941	C	T	7618941	3	4	283	1	0	0	0	0	1	0	0	0	7907	826	29	4	1518	4	ITIH5	10	7618941	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	209258	7618941	127915806	731	146013											
GATA3	2625	broad.mit.edu	37	chr10	8097849	8097849	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggtgcagaggtaccctccGacccaccacggtgagtgcgc	13	15	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:8097849G>A	uc001ika.2	+	2	788	c.231G>A	c.(229-231)CCG>CCA	p.P77P	FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_Silent_p.P77P	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	77					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			breast(17)|ovary(3)|central_nervous_system(2)	22						GGTACCCTCCGACCCACCACG	0.697			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						A	8097849	G	A	8097849	2	1	283	1	0	0	0	0	0	0	0	1	6255	1045	37	1		1	GATA3	10	8097849	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	478908	8097849	127436898	732	146014											
CDC123	8872	broad.mit.edu	37	chr10	12279206	12279206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacaaaaggaagaaattcGcagatgcatacaagactttt	7	6	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:12279206G>A	uc001ill.2	+	9	913	c.629G>A	c.(628-630)CGC>CAC	p.R210H	CDC123_uc001ilm.2_Missense_Mutation_p.R222H	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	210					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						GAAGAAATTCGCAGATGCATA	0.279													A	12279206	G	A	12279206	3	1	283	1	0	0	0	0	1	0	0	0	3055	1087	38	1	663	1	CDC123	10	12279206	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4181357	12279206	123255541	733	146015											
CCDC3	83643	broad.mit.edu	37	chr10	12940431	12940432	+	Frame_Shift_Ins	INS	-	-	G													cccgttacccccgcaggtagINSggggggcgcacgggcccccg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:12940430_12940431A>AG	uc001ilq.1	-	2	932_933	c.798_799T>CT	c.(796-801)ccctacfs	p.P266fs	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	266						endoplasmic reticulum|extracellular region		p.Y267C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCCGCAGGTAGGGGGGGCGCA	0.644													G	12940432	-	G	12940431	7	5	283	1	0	1	1	0	0	0	0	0	2804	987	35	0	18	0	CCDC3	10	12940431	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	661225	12940431	122594316	734	146016											
FRMD4A	55691	broad.mit.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-													ggatgtggtgggggctgcttGggggggtggctccaatttca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	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						GGGGGCTGCTTGGGGGGGTGG	0.532													-	13696452	G	-	13696452	7	5	283	1	0	1	0	1	0	0	0	0	6051	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	756021	13696452	121838295	735	146017											
STAM	8027	broad.mit.edu	37	chr10	17742265	17742265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccagagccggaaccagCctttattgatgaagtaagtg	11	8	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:17742265C>T	uc001ipj.1	+	9	1115	c.899C>T	c.(898-900)GCC>GTC	p.A300V	STAM_uc010qcf.1_Missense_Mutation_p.A189V|STAM_uc009xjw.1_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	300					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	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						CCGGAACCAGCCTTTATTGAT	0.333													T	17742265	C	T	17742265	3	4	283	1	0	0	0	0	1	0	0	0	15247	739	26	2	933	2	STAM	10	17742265	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4045813	17742265	117792482	736	146018											
SLC39A12	221074	broad.mit.edu	37	chr10	18250727	18250727	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaagattcctctttcctttCacagaatgagacagaagata	7	8	2	6			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:18250727C>A	uc001ipo.2	+	3	752	c.479C>A	c.(478-480)TCA>TAA	p.S160*	SLC39A12_uc001ipn.2_Nonsense_Mutation_p.S160*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.S160*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.S26*	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	160	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCTTTCCTTTCACAGAATGAG	0.418													A	18250727	C	A	18250727	4	1	283	1	0	0	0	0	0	1	0	0	14615	838	29	5	485	5	SLC39A12	10	18250727	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	508462	18250727	117284020	737	146019											
CACNB2	783	broad.mit.edu	37	chr10	18690913	18690913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtatctctggaggaggacCgggaggcagtgcgcagagaa	17	7	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:18690913C>T	uc001ipr.2	+	3	334	c.274C>T	c.(274-276)CGG>TGG	p.R92W	CACNB2_uc009xjz.1_Missense_Mutation_p.R92W|CACNB2_uc001ips.2_Missense_Mutation_p.R92W|CACNB2_uc001ipt.2_Missense_Mutation_p.R92W|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.R64W|CACNB2_uc001ipv.2_Missense_Mutation_p.R64W|CACNB2_uc009xka.1_Missense_Mutation_p.R64W|CACNB2_uc001ipw.2_Missense_Mutation_p.R37W|CACNB2_uc001ipx.2_Missense_Mutation_p.R37W|CACNB2_uc009xkb.1_Missense_Mutation_p.R38W|CACNB2_uc010qcm.1_Missense_Mutation_p.R38W|CACNB2_uc001ipz.2_Missense_Mutation_p.R38W|CACNB2_uc001ipy.2_Missense_Mutation_p.R38W|CACNB2_uc010qcn.1_Missense_Mutation_p.R44W|CACNB2_uc010qco.1_Missense_Mutation_p.R44W|CACNB2_uc001iqa.2_Missense_Mutation_p.R44W	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	92					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGAGGAGGACCGGGAGGCAGT	0.512													T	18690913	C	T	18690913	3	4	283	1	0	0	0	0	1	0	0	0	2553	643	23	1	504	1	CACNB2	10	18690913	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	440186	18690913	116843834	738	146020											
GPR158	57512	broad.mit.edu	37	chr10	25886928	25886928	+	Frame_Shift_Del	DEL	C	C	-													actgccctcatcaggaagaaCcccccagagtcttcagggaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:25886927_25886927AC>A	uc001isj.3	+	10	2432	c.2372_2372AC>A	c.(2371-2373)aacfs	p.N791fs	GPR158_uc001isk.3_Frame_Shift_Del_p.N166fs	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	791						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						ATCAGGAAGAACCCCCCAGAG	0.547													-	25886928	C	-	25886928	7	5	283	1	0	1	0	1	0	0	0	0	6663	506	18	0	2415	0	GPR158	10	25886928	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	7196015	25886928	109647819	739	146021											
KIAA1462	57608	broad.mit.edu	37	chr10	30316721	30316721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagcccgtggacatccaCgcagggctgacttcggcctg	12	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:30316721C>T	uc001iux.2	-	2	2415	c.2356G>A	c.(2356-2358)GTG>ATG	p.V786M	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.V648M|KIAA1462_uc009xle.1_Missense_Mutation_p.V786M	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	786										ovary(4)	4						TGGACATCCACGCAGGGCTGA	0.617													T	30316721	C	T	30316721	3	4	283	1	0	0	0	0	1	0	0	0	8234	536	19	1	1731	1	KIAA1462	10	30316721	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4429793	30316721	105218026	740	146022											
CREM	1390	broad.mit.edu	37	chr10	35495867	35495867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagatccgagctcctactGctgctttgccacagggagtg	11	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:35495867G>A	uc001iyb.2	+	7	805	c.643G>A	c.(643-645)GCT>ACT	p.A215T	CREM_uc001ixy.2_Missense_Mutation_p.A11T|CREM_uc001ixz.2_Missense_Mutation_p.A11T|CREM_uc001iya.2_Missense_Mutation_p.A164T|CREM_uc001iyc.2_Missense_Mutation_p.A136T|CREM_uc001iyd.2_Missense_Mutation_p.A215T|CREM_uc001iye.2_Missense_Mutation_p.A152T|CREM_uc001iyf.2_Missense_Mutation_p.A185T|CREM_uc001iyg.2_Missense_Mutation_p.A122T|CREM_uc001iyh.2_Missense_Mutation_p.A160T|CREM_uc001iyi.2_Missense_Mutation_p.A97T|CREM_uc001iyj.2_Missense_Mutation_p.A94T|CREM_uc001iyk.2_Missense_Mutation_p.A94T|CREM_uc001iyl.2_Missense_Mutation_p.A36T|CREM_uc001iym.2_Missense_Mutation_p.A36T|CREM_uc001iyn.2_Missense_Mutation_p.A24T|CREM_uc001iyo.2_Missense_Mutation_p.A24T|CREM_uc001iyp.2_Missense_Mutation_p.A18T|CREM_uc001iyq.2_Missense_Mutation_p.A28T|CREM_uc001iyr.2_Missense_Mutation_p.A28T|CREM_uc001iys.2_Missense_Mutation_p.A11T|CREM_uc001iyt.2_Missense_Mutation_p.A11T	NM_181571	NP_853549	Q03060	CREM_HUMAN	cAMP responsive element modulator isoform a	276					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				0						AGCTCCTACTGCTGCTTTGCC	0.483													A	35495867	G	A	35495867	3	1	283	1	0	0	0	0	1	0	0	0	3868	1319	46	2	917	2	CREM	10	35495867	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5179146	35495867	100038880	741	146023											
ZNF37A	7587	broad.mit.edu	37	chr10	38407134	38407134	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagaacgcacacaggggAgaaaccatatgaatgtcatg	10	8	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:38407134A>T	uc001izk.2	+	8	1874	c.1055A>T	c.(1054-1056)GAG>GTG	p.E352V	ZNF37A_uc001izl.2_Missense_Mutation_p.E352V|ZNF37A_uc001izm.2_Missense_Mutation_p.E352V	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	352						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						CACACAGGGGAGAAACCATAT	0.428													T	38407134	A	T	38407134	3	4	283	1	0	0	0	0	1	0	0	0	17869	304	11	5	1069	5	ZNF37A	10	38407134	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2911267	38407134	97127613	742	146024											
ALOX5	240	broad.mit.edu	37	chr10	45938635	45938635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacttctaccgggacgaCgggctcctggtgtgggaagc	14	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:45938635C>T	uc001jce.2	+	10	1521	c.1422C>T	c.(1420-1422)GAC>GAT	p.D474D	ALOX5_uc009xmt.2_Silent_p.D442D|ALOX5_uc010qfg.1_Silent_p.D474D	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	474	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			ovary(1)|pancreas(1)	2		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)	ACCGGGACGACGGGCTCCTGG	0.667													T	45938635	C	T	45938635	2	4	283	1	0	0	0	0	0	0	0	1	540	535	19	1		1	ALOX5	10	45938635	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	7531501	45938635	89596112	743	146025											
SYT15	83849	broad.mit.edu	37	chr10	46962096	46962096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggggcccaccaccactcgGcccagctgctggctctctgc	11	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:46962096G>A	uc001jea.2	-	8	1293	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Silent_p.G258G|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	380	Cytoplasmic (Potential).|C2 2.					integral to membrane|plasma membrane					0						CCACCACTCGGCCCAGCTGCT	0.657													A	46962096	G	A	46962096	2	1	283	1	0	0	0	0	0	0	0	1	15468	1190	42	2		2	SYT15	10	46962096	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1023461	46962096	88572651	744	146026											
GPRIN2	9721	broad.mit.edu	37	chr10	47000062	47000062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgacatgggaggtgtaCggagctgcggtggacctgga	19	7	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:47000062C>T	uc001jec.2	+	3	1317	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y	GPRIN2_uc010qfq.1_Silent_p.Y157Y	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	394											0						GGGAGGTGTACGGAGCTGCGG	0.647													T	47000062	C	T	47000062	2	4	283	1	0	0	0	0	0	0	0	1	6730	547	19	1		1	GPRIN2	10	47000062	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	37966	47000062	88534685	745	146027											
ARHGAP22	58504	broad.mit.edu	37	chr10	49658466	49658466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcccgcctcgtccatgCtgtggtccaggtccagggac	13	17	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:49658466C>T	uc001jgt.2	-	9	2003	c.1706G>A	c.(1705-1707)AGC>AAC	p.S569N	ARHGAP22_uc001jgs.2_Missense_Mutation_p.S479N|ARHGAP22_uc001jgu.2_Missense_Mutation_p.S585N|ARHGAP22_uc010qgl.1_Missense_Mutation_p.S526N|ARHGAP22_uc010qgm.1_Missense_Mutation_p.S575N|ARHGAP22_uc001jgv.2_Missense_Mutation_p.S267N|ARHGAP22_uc001jgr.2_Missense_Mutation_p.S286N	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	569	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			ovary(1)	1						CTCGTCCATGCTGTGGTCCAG	0.726													T	49658466	C	T	49658466	3	4	283	1	0	0	0	0	1	0	0	0	872	797	28	2	398	2	ARHGAP22	10	49658466	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2658404	49658466	85876281	746	146028											
PRKG1	5592	broad.mit.edu	37	chr10	54048574	54048574	+	Frame_Shift_Del	DEL	A	A	-													aatttccaaagaagattgccAaaaatgctgctaatttaatt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:54048573_54048573CA>C	uc001jjm.3	+	14	1980	c.1752_1752CA>C	c.(1750-1752)gccfs	p.A584fs	PRKG1_uc001jjo.3_Frame_Shift_Del_p.A599fs|PRKG1_uc009xow.2_Frame_Shift_Del_p.A302fs|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	584	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGAAGATTGCCAAAAATGCTG	0.318													-	54048574	A	-	54048574	7	5	283	1	0	1	0	1	0	0	0	0	12522	131	5	0	2126	0	PRKG1	10	54048574	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	4390108	54048574	81486173	747	146029											
CTNNA3	29119	broad.mit.edu	37	chr10	67680208	67680209	+	Frame_Shift_Ins	INS	-	-	TT													tctctcttttaatcaagggtINSttttttgcaggagccttcat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:67680207_67680208G>GTT	uc009xpn.1	-	17	2691_2692	c.2568_2569C>AAC	c.(2566-2571)aaacccfs	p.K856fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K856fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	856					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(3)|p.K855E(1)		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						TTAATCAAGGGTTTTTTTGCAG	0.465													TT	67680209	-	TT	67680208	7	5	283	1	0	1	1	0	0	0	0	0	4014	1722	60	0	123	0	CTNNA3	10	67680208	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	13631634	67680208	67854539	748	146030											
TET1	80312	broad.mit.edu	37	chr10	70450890	70450891	+	Frame_Shift_Ins	INS	-	-	C													ttggcgaagtggctcctctcINScccaccctgtctgctcctgt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:70450889_70450890T>TC	uc001jok.4	+	11	6234_6235	c.5729_5730T>TC	c.(5728-5730)ctcfs	p.L1910fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1910					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						GTGGCTCCTCTCCCCACCCTGT	0.584													C	70450891	-	C	70450890	7	5	283	1	0	1	1	0	0	0	0	0	15766	842	30	0	5772	0	TET1	10	70450890	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	2770682	70450890	65083857	749	146031											
AIFM2	84883	broad.mit.edu	37	chr10	71883164	71883164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggccctcactcacctcGccaccctgcagcagcaccat	8	20	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:71883164G>A	uc010qjg.1	-	2	304	c.291C>T	c.(289-291)GGC>GGT	p.G97G	AIFM2_uc001jqp.1_Silent_p.G97G	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	97					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						CACTCACCTCGCCACCCTGCA	0.567													A	71883164	G	A	71883164	2	1	283	1	0	0	0	0	0	0	0	1	427	1074	38	1		1	AIFM2	10	71883164	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1432274	71883164	63651583	750	146032											
ADAMTS14	140766	broad.mit.edu	37	chr10	72498695	72498695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtttgggtcatgttcgcGgtcatgtgggggcggggtgc	19	7	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:72498695G>A	uc001jrh.2	+	11	1697	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R569Q|ADAMTS14_uc001jri.1_Missense_Mutation_p.R89Q	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	566	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						TCATGTTCGCGGTCATGTGGG	0.637													A	72498695	G	A	72498695	3	1	283	1	0	0	0	0	1	0	0	0	259	1116	39	1	1748	1	ADAMTS14	10	72498695	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	615531	72498695	63036052	751	146033											
ASCC1	51008	broad.mit.edu	37	chr10	73963225	73963225	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttaggaatgctaatagaAgttttggtctccatttctat	9	5	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:73963225A>C	uc001jst.1	-	5	462	c.354T>G	c.(352-354)ACT>ACG	p.T118T	ASCC1_uc001jsr.1_Silent_p.T5T|ASCC1_uc001jss.1_Silent_p.T90T|ASCC1_uc001jsu.1_Silent_p.T90T|ASCC1_uc010qju.1_Silent_p.T111T			Q8N9N2	ASCC1_HUMAN	RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;	118	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0						TGCTAATAGAAGTTTTGGTCT	0.343													C	73963225	A	C	73963225	2	2	283	1	0	0	0	0	0	0	0	1	1031	59	3	5		5	ASCC1	10	73963225	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1464530	73963225	61571522	752	146034											
OIT3	170392	broad.mit.edu	37	chr10	74692258	74692258	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagacgctaacaggcggcccGatccgcatcgactgggagga	14	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:74692258G>A	uc001jte.1	+	9	1832	c.1614G>A	c.(1612-1614)CCG>CCA	p.P538P	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	538						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					CAGGCGGCCCGATCCGCATCG	0.637													A	74692258	G	A	74692258	2	1	283	1	0	0	0	0	0	0	0	1	10849	1045	37	1		1	OIT3	10	74692258	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	729033	74692258	60842489	753	146035											
KIAA0913	23053	broad.mit.edu	37	chr10	75558820	75558820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagctaagggtgggggcGtgtaccctgaagtgttgttt	17	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:75558820G>A	uc009xrl.2	+	21	4254	c.4222G>A	c.(4222-4224)GTG>ATG	p.V1408M	KIAA0913_uc001jve.2_Missense_Mutation_p.V1413M|KIAA0913_uc001jvf.2_Intron|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.V843M|KIAA0913_uc010qkr.1_Missense_Mutation_p.V831M|KIAA0913_uc001jvj.2_Missense_Mutation_p.V831M|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1408							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGGTGGGGGCGTGTACCCTGA	0.567													A	75558820	G	A	75558820	3	1	283	1	0	0	0	0	1	0	0	0	8200	1145	40	1	4319	1	KIAA0913	10	75558820	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	866562	75558820	59975927	754	146036											
ZMIZ1	57178	broad.mit.edu	37	chr10	81050777	81050777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcggcaaccccatggCgtcgggcatgaccaccagca	12	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:81050777C>T	uc001kaf.2	+	10	1174	c.602C>T	c.(601-603)GCG>GTG	p.A201V	ZMIZ1_uc001kag.2_Missense_Mutation_p.A77V|ZMIZ1_uc001kah.1_Missense_Mutation_p.A77V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	201					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	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)			AACCCCATGGCGTCGGGCATG	0.617													T	81050777	C	T	81050777	3	4	283	1	0	0	0	0	1	0	0	0	17693	768	27	1	624	1	ZMIZ1	10	81050777	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5491957	81050777	54483970	755	146037											
MYOF	26509	broad.mit.edu	37	chr10	95155899	95155899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatctgttgagtgacttacCttccacttccccaccagagg	8	13	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:95155899C>T	uc001kin.2	-	16	1540	c.1417G>A	c.(1417-1419)GAT>AAT	p.D473N	MYOF_uc001kio.2_Missense_Mutation_p.V473I	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	473	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						AGTGACTTACCTTCCACTTCC	0.403													T	95155899	C	T	95155899	3	4	283	1	0	0	0	0	1	0	0	0	10089	695	24	4	4924	4	MYOF	10	95155899	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	14105122	95155899	40378848	756	146038											
GPR120	338557	broad.mit.edu	37	chr10	95327000	95327000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgctctgcctctctgcGtcttcttccgagtcgtcccg	9	18	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:95327000G>A	uc010qnt.1	+	1	579	c.523G>A	c.(523-525)GTC>ATC	p.V175I	GPR120_uc010qnu.1_Missense_Mutation_p.V175I	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	175	Helical; Name=4; (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				GCCTCTCTGCGTCTTCTTCCG	0.741													A	95327000	G	A	95327000	3	1	283	1	0	0	0	0	1	0	0	0	6636	1145	40	1	525	1	GPR120	10	95327000	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	171101	95327000	40207747	757	146039											
CCNJ	54619	broad.mit.edu	37	chr10	97816675	97816675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaaacagatcttcatgaCggctggccaatgatttgctt	9	10	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:97816675C>T	uc001klm.2	+	4	857	c.498C>T	c.(496-498)GAC>GAT	p.D166D	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Silent_p.D166D|CCNJ_uc001kln.2_Silent_p.D166D	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	166						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ATCTTCATGACGGCTGGCCAA	0.418													T	97816675	C	T	97816675	2	4	283	1	0	0	0	0	0	0	0	1	2928	535	19	1		1	CCNJ	10	97816675	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2489675	97816675	37718072	758	146040											
ZFYVE27	118813	broad.mit.edu	37	chr10	99509312	99509312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacccttttaaacagcacGctctttctggggaatgtgga	9	11	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:99509312G>A	uc001koo.2	+	6	833	c.633G>A	c.(631-633)ACG>ACA	p.T211T	ZFYVE27_uc001kon.2_Silent_p.T211T|ZFYVE27_uc001koq.2_Silent_p.T125T|ZFYVE27_uc010qpa.1_Silent_p.T93T|ZFYVE27_uc001kop.2_Silent_p.T211T|ZFYVE27_uc010qpb.1_Silent_p.T113T|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Silent_p.T179T|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Silent_p.T211T|ZFYVE27_uc001kom.1_Silent_p.T211T	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27 isoform	211	Extracellular (Potential).				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			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TAAACAGCACGCTCTTTCTGG	0.557													A	99509312	G	A	99509312	2	1	283	1	0	0	0	0	0	0	0	1	17666	1074	38	1		1	ZFYVE27	10	99509312	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1692637	99509312	36025435	759	146041											
PYROXD2	84795	broad.mit.edu	37	chr10	100159860	100159860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggtcgccttccctaccTgggcatccttctgggagaac	10	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:100159860T>C	uc001kpc.2	-	5	556	c.470A>G	c.(469-471)CAG>CGG	p.Q157R	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.Q157R	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	157							oxidoreductase activity			central_nervous_system(1)	1						CTTCCCTACCTGGGCATCCTT	0.572													C	100159860	T	C	100159860	3	2	283	1	0	0	0	0	1	0	0	0	12867	1594	55	3	1323	3	PYROXD2	10	100159860	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	650548	100159860	35374887	760	146042											
NKX2-3	159296	broad.mit.edu	37	chr10	101295042	101295042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttggcgcacacgcgccccCgccgccgccgcgccgcgtgg	15	21	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:101295042C>T	uc009xwj.2	+	2	858	c.659C>T	c.(658-660)CCG>CTG	p.P220L		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	220	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		CAcgcgcccccgccgccgccg	0.557													T	101295042	C	T	101295042	3	4	283	1	0	0	0	0	1	0	0	0	10451	652	23	1	665	1	NKX2-3	10	101295042	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1135182	101295042	34239705	761	146043											
DNMBP	23268	broad.mit.edu	37	chr10	101637006	101637006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttcctgtaacatcttTaaactcgaggatcttgagtt	7	7	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:101637006T>C	uc001kqj.2	-	17	4728	c.4636A>G	c.(4636-4638)AAA>GAA	p.K1546E	DNMBP_uc010qpl.1_Missense_Mutation_p.K482E|DNMBP_uc001kqg.2_Missense_Mutation_p.K834E|DNMBP_uc001kqh.2_Missense_Mutation_p.K1178E	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1546	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTAACATCTTTAAACTCGAGG	0.473													C	101637006	T	C	101637006	3	2	283	1	0	0	0	0	1	0	0	0	4674	1763	61	3	101	3	DNMBP	10	101637006	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	341964	101637006	33897741	762	146044											
SEC31B	25956	broad.mit.edu	37	chr10	102248625	102248625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacttactaagtcagttGcagacagggagcagcgttgg	13	8	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:102248625G>A	uc001krc.1	-	24	3380	c.3278C>T	c.(3277-3279)GCA>GTA	p.A1093V	SEC31B_uc010qpo.1_Missense_Mutation_p.A1092V|SEC31B_uc001krd.1_Missense_Mutation_p.A630V|SEC31B_uc001krf.1_Missense_Mutation_p.A526V|SEC31B_uc001kre.1_Missense_Mutation_p.A525V	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	1093					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TAAGTCAGTTGCAGACAGGGA	0.572													A	102248625	G	A	102248625	3	1	283	1	0	0	0	0	1	0	0	0	13999	1319	46	2	273	2	SEC31B	10	102248625	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	611619	102248625	33286122	763	146045											
MGEA5	10724	broad.mit.edu	37	chr10	103558759	103558759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagggtcactggttccGcagtgtacaaaggcttttca	10	12	2	0	rs149208353	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:103558759G>A	uc001ktv.2	-	9	2092	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.A497V|MGEA5_uc009xws.2_Missense_Mutation_p.A497V|MGEA5_uc001ktw.2_Missense_Mutation_p.A550V|MGEA5_uc009xwt.2_Missense_Mutation_p.A313V	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	550					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CACTGGTTCCGCAGTGTACAA	0.453													A	103558759	G	A	103558759	3	1	283	1	0	0	0	0	1	0	0	0	9555	1087	38	1	1133	1	MGEA5	10	103558759	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1310134	103558759	31975988	764	146046											
NEURL	9148	broad.mit.edu	37	chr10	105349958	105349958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtctgggccagtggagCgatgagtgcaccatttgcta	14	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:105349958C>T	uc001kxh.2	+	6	1964	c.1554C>T	c.(1552-1554)AGC>AGT	p.S518S	SH3PXD2A_uc010qqr.1_Intron	NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	518					nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCAGTGGAGCGATGAGTGCA	0.622													T	105349958	C	T	105349958	2	4	283	1	0	0	0	0	0	0	0	1	10345	767	27	1		1	NEURL	10	105349958	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1791199	105349958	30184789	765	146047											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362048	105362048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgactggggcctgaccGccacctgccgcactccgttc	10	19	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:105362048G>A	uc001kxj.1	-	14	2983	c.2843C>T	c.(2842-2844)GCG>GTG	p.A948V	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.A825V|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.A891V	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	976					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		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)		GGGCCTGACCGCCACCTGCCG	0.652													A	105362048	G	A	105362048	3	1	283	1	0	0	0	0	1	0	0	0	14256	1087	38	1	478	1	SH3PXD2A	10	105362048	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	12090	105362048	30172699	766	146048											
SORCS1	114815	broad.mit.edu	37	chr10	108412225	108412225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactatccgcagcccccgcGgggctttccctgggcacttc	11	17	0	1	rs146666715		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:108412225G>A	uc001kym.2	-	18	2398	c.2390C>T	c.(2389-2391)CCG>CTG	p.P797L	SORCS1_uc001kyl.2_Missense_Mutation_p.P797L|SORCS1_uc009xxs.2_Missense_Mutation_p.P797L|SORCS1_uc001kyn.1_Missense_Mutation_p.P797L|SORCS1_uc001kyo.2_Missense_Mutation_p.P797L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	797	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGCCCCCGCGGGGCTTTCCC	0.512													A	108412225	G	A	108412225	3	1	283	1	0	0	0	0	1	0	0	0	14930	1116	39	1	1386	1	SORCS1	10	108412225	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3050177	108412225	27122522	767	146049											
SMC3	9126	broad.mit.edu	37	chr10	112361549	112361551	+	In_Frame_Del	DEL	GAA	GAA	-													aatcggcaaggcatgctattGaagaagaaagaagagtgtat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:112361548_112361550TGAA>T	uc001kze.3	+	23	2924_2926	c.2798_2800TGAA>T	c.(2797-2802)ttgaag>tTag	p.K936del		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	936					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGCATGCTATTGAAGAAGAAAGA	0.384													-	112361551	GAA	-	112361549	7	5	283	1	0	1	0	1	0	0	0	0	14784	1281	45	0	2893	0	SMC3	10	112361549	In_Frame_Del	DEL	GAA	TCGA-HU-A4H8-01A-11D-A25D-08	3949324	112361549	23173198	768	146050											
PDCD4	27250	broad.mit.edu	37	chr10	112641196	112641196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcgacagtgggagtgaCgcccttagaagtggattaac	14	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:112641196C>T	uc001kzh.2	+	3	492	c.249C>T	c.(247-249)GAC>GAT	p.D83D	PDCD4_uc001kzg.2_Silent_p.D72D|PDCD4_uc010qre.1_Silent_p.D69D	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	83					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTGGGAGTGACGCCCTTAGAA	0.502													T	112641196	C	T	112641196	2	4	283	1	0	0	0	0	0	0	0	1	11621	535	19	1		1	PDCD4	10	112641196	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	279647	112641196	22893551	769	146051											
ABLIM1	3983	broad.mit.edu	37	chr10	116417742	116417742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaacgctgttacatacaCgcccacgtgggcagtagtcc	10	13	1	0	rs146399793	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:116417742C>T	uc010qsg.1	-	1	317	c.218G>A	c.(217-219)CGT>CAT	p.R73H	ABLIM1_uc010qsh.1_Intron|ABLIM1_uc010qsi.1_Intron|ABLIM1_uc009xyp.2_Intron|ABLIM1_uc001lbz.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	73					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTTACATACACGCCCACGTGG	0.483													T	116417742	C	T	116417742	3	4	283	1	0	0	0	0	1	0	0	0	94	536	19	1	2294	1	ABLIM1	10	116417742	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3776546	116417742	19117005	770	146052											
SLC18A2	6571	broad.mit.edu	37	chr10	119001232	119001232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgagctggcgctggtcCgctggctgcaggagagccgc	18	12	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:119001232C>T	uc001ldd.1	+	2	59	c.28C>T	c.(28-30)CGC>TGC	p.R10C	SLC18A2_uc009xyy.1_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	10	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GGCGCTGGTCCGCTGGCTGCA	0.697													T	119001232	C	T	119001232	3	4	283	1	0	0	0	0	1	0	0	0	14426	652	23	1	30	1	SLC18A2	10	119001232	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2583490	119001232	16533515	771	146053											
GRK5	2869	broad.mit.edu	37	chr10	121212266	121212266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctggaccacacagacgaCgacttctactccaagttctc	6	14	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:121212266C>T	uc001led.2	+	14	1721	c.1488C>T	c.(1486-1488)GAC>GAT	p.D496D	GRK5_uc009xzh.2_Silent_p.D361D	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	496	AGC-kinase C-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			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		ACACAGACGACGACTTCTACT	0.597													T	121212266	C	T	121212266	2	4	283	1	0	0	0	0	0	0	0	1	6792	535	19	1		1	GRK5	10	121212266	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2211034	121212266	14322481	772	146054											
C10orf119	79892	broad.mit.edu	37	chr10	121591584	121591584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgagggtcgttcttcCgcatttccacaaagtcatct	8	12	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:121591584C>T	uc001ler.2	-	15	2040	c.1742G>A	c.(1741-1743)CGG>CAG	p.R581Q	C10orf119_uc001leq.1_Missense_Mutation_p.R406Q|C10orf119_uc001les.1_Missense_Mutation_p.R406Q	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	581					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)		GTCGTTCTTCCGCATTTCCAC	0.428													T	121591584	C	T	121591584	3	4	283	1	0	0	0	0	1	0	0	0	1588	652	23	1	194	1	C10orf119	10	121591584	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	379318	121591584	13943163	773	146055											
ATE1	11101	broad.mit.edu	37	chr10	123600666	123600666	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtacaaatacacagatgatAcacagtttgggaggatgtca	10	6	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:123600666A>T	uc001lfp.2	-	9	1170	c.1088T>A	c.(1087-1089)GTA>GAA	p.V363E	ATE1_uc001lfq.2_Missense_Mutation_p.V363E|ATE1_uc010qtr.1_Missense_Mutation_p.V248E|ATE1_uc010qts.1_Missense_Mutation_p.V267E|ATE1_uc010qtt.1_Missense_Mutation_p.V356E|ATE1_uc001lfr.2_Missense_Mutation_p.V64E|ATE1_uc009xzu.2_RNA	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	363					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACAGATGATACACAGTTTGG	0.458													T	123600666	A	T	123600666	3	4	283	1	0	0	0	0	1	0	0	0	1078	391	14	5	484	5	ATE1	10	123600666	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2009082	123600666	11934081	774	146056											
ATE1	11101	broad.mit.edu	37	chr10	123673353	123673353	+	Frame_Shift_Del	DEL	T	T	-													tttagctagaaatttcaacaTttttttcaaaaccttcttgt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:123673353delT	uc001lfp.2	-	4	371	c.289delA	c.(289-291)ATGfs	p.M97fs	ATE1_uc001lfq.2_Frame_Shift_Del_p.M97fs|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Frame_Shift_Del_p.M1fs|ATE1_uc010qtt.1_Frame_Shift_Del_p.M90fs|ATE1_uc001lfr.2_Translation_Start_Site|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	97					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AATTTCAACATTTTTTTCAAA	0.378													-	123673353	T	-	123673353	7	5	283	1	0	1	0	1	0	0	0	0	1078	1493	52	0	1436	0	ATE1	10	123673353	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	72687	123673353	11861394	775	146057											
BUB3	9184	broad.mit.edu	37	chr10	124914569	124914569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtctctacgatgtgccgGccaactccatgcggctcaag	11	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:124914569G>A	uc001lhe.2	+	2	378	c.136G>A	c.(136-138)GCC>ACC	p.A46T	BUB3_uc009yah.2_5'UTR|BUB3_uc001lhf.3_Missense_Mutation_p.A46T|BUB3_uc001lhd.2_Missense_Mutation_p.A46T|BUB3_uc010qud.1_Intron	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	46	WD 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CGATGTGCCGGCCAACTCCAT	0.627													A	124914569	G	A	124914569	3	1	283	1	0	0	0	0	1	0	0	0	1572	1203	42	2	138	2	BUB3	10	124914569	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1241216	124914569	10620178	776	146058											
MMP21	118856	broad.mit.edu	37	chr10	127462424	127462424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaaagcccagcttgatgtCgaccgcggccccgggggcgg	15	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:127462424C>T	uc001liu.2	-	2	673	c.673G>A	c.(673-675)GAC>AAC	p.D225N		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	225					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCTTGATGTCGACCGCGGCC	0.736													T	127462424	C	T	127462424	3	4	283	1	0	0	0	0	1	0	0	0	9660	884	31	1	1060	1	MMP21	10	127462424	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2547855	127462424	8072323	777	146059											
UROS	7390	broad.mit.edu	37	chr10	127477547	127477547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctgggcggccagcgcgcGagccgtagtggggccgatgg	20	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:127477547G>A	uc001liw.3	-	9	821	c.688C>T	c.(688-690)CGC>TGC	p.R230C	UROS_uc001liv.3_Missense_Mutation_p.R163C|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.R230C|UROS_uc001liy.3_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	230					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCCAGCGCGCGAGCCGTAGTG	0.637													A	127477547	G	A	127477547	3	1	283	1	0	0	0	0	1	0	0	0	17027	1058	37	1	113	1	UROS	10	127477547	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	15123	127477547	8057200	778	146060											
BCCIP	56647	broad.mit.edu	37	chr10	127524804	127524804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccaggcgacaagatgaaCgaaatcatggataaactgaa	9	7	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:127524804C>T	uc001ljb.3	+	7	929	c.906C>T	c.(904-906)AAC>AAT	p.N302N	BCCIP_uc001ljd.3_Intron|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	302					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACAAGATGAACGAAATCATGG	0.428													T	127524804	C	T	127524804	2	4	283	1	0	0	0	0	0	0	0	1	1356	535	19	1		1	BCCIP	10	127524804	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	47257	127524804	8009943	779	146061											
MKI67	4288	broad.mit.edu	37	chr10	129905283	129905283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactttggcagttttatcGttagtcattgattcctcagt	8	8	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:129905283G>A	uc001lke.2	-	13	5016	c.4821C>T	c.(4819-4821)AAC>AAT	p.N1607N	MKI67_uc001lkf.2_Silent_p.N1247N|MKI67_uc009yav.1_Silent_p.N1182N|MKI67_uc009yaw.1_Silent_p.N757N	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1607	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				CAGTTTTATCGTTAGTCATTG	0.502													A	129905283	G	A	129905283	2	1	283	1	0	0	0	0	0	0	0	1	9598	1136	40	1		1	MKI67	10	129905283	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2380479	129905283	5629464	780	146062											
TCERG1L	256536	broad.mit.edu	37	chr10	132891537	132891537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttttgaacaagtcggaacCtctgatcccggccgtatttc	8	11	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:132891537C>A	uc001lkp.2	-	12	1735	c.1649G>T	c.(1648-1650)AGG>ATG	p.R550M		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	550	FF 2.									large_intestine(2)|ovary(2)	4		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)		AAGTCGGAACCTCTGATCCCG	0.453													A	132891537	C	A	132891537	3	1	283	1	0	0	0	0	1	0	0	0	15683	681	24	5	115	5	TCERG1L	10	132891537	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2986254	132891537	2643210	781	146063											
TCERG1L	256536	broad.mit.edu	37	chr10	132944790	132944790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgcctccagcttgcGtttgtggggcgggtcctcaa	15	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:132944790G>A	uc001lkp.2	-	7	1254	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	390										large_intestine(2)|ovary(2)	4		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)		TCCAGCTTGCGTTTGTGGGGC	0.498													A	132944790	G	A	132944790	3	1	283	1	0	0	0	0	1	0	0	0	15683	1145	40	1	616	1	TCERG1L	10	132944790	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	53253	132944790	2589957	782	146064											
PPP2R2D	55844	broad.mit.edu	37	chr10	133769241	133769241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgtttgatagagacaCgcggagggatgtgaccctgg	16	7	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:133769241C>T	uc001lks.2	+	7	1280	c.1037C>T	c.(1036-1038)ACG>ATG	p.T346M	PPP2R2D_uc001lkr.2_Missense_Mutation_p.T152M|PPP2R2D_uc001lkt.2_Missense_Mutation_p.T152M|PPP2R2D_uc009yay.2_Missense_Mutation_p.T214M	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	379	WD 6.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GATAGAGACACGCGGAGGGAT	0.582													T	133769241	C	T	133769241	3	4	283	1	0	0	0	0	1	0	0	0	12387	536	19	1	1064	1	PPP2R2D	10	133769241	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	824451	133769241	1765506	783	146065											
PWWP2B	170394	broad.mit.edu	37	chr10	134218962	134218962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaagttgaaactgacaCggcctgtgccggccggcgcg	13	15	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:134218962C>T	uc001lll.3	+	2	987	c.958C>T	c.(958-960)CGG>TGG	p.R320W	PWWP2B_uc009ybe.2_Missense_Mutation_p.R320W	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	320											0		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)		GAAACTGACACGGCCTGTGCC	0.721													T	134218962	C	T	134218962	3	4	283	1	0	0	0	0	1	0	0	0	12846	527	19	1	964	1	PWWP2B	10	134218962	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	449721	134218962	1315785	784	146066											
KNDC1	85442	broad.mit.edu	37	chr10	135025243	135025243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggaggtgggcatggacCggcgggccgagggcaaccct	18	12	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr10:135025243C>T	uc001llz.1	+	23	4118	c.4117C>T	c.(4117-4119)CGG>TGG	p.R1373W		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1373					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		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)		GGGCATGGACCGGCGGGCCGA	0.662													T	135025243	C	T	135025243	3	4	283	1	0	0	0	0	1	0	0	0	8426	643	23	1	4207	1	KNDC1	10	135025243	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	806281	135025243	509504	785	146067											
PHRF1	57661	broad.mit.edu	37	chr11	610707	610709	+	In_Frame_Del	DEL	GGA	GGA	-													gccactgcagccagcaactcGgaggagaagaccccggcccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:610707_610709delGGA	uc001lqe.2	+	16	4754_4756	c.4623_4625delGGA	c.(4621-4626)TCGGAG>TCG	p.E1543del	PHRF1_uc010qwc.1_In_Frame_Del_p.E1542del|PHRF1_uc010qwd.1_In_Frame_Del_p.E1541del|PHRF1_uc010qwe.1_In_Frame_Del_p.E1539del|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1543							RNA polymerase binding|zinc ion binding				0						CCAGCAACTCGGAGGAGAAGACC	0.635													-	610709	GGA	-	610707	7	5	283	1	0	1	0	1	0	0	0	0	11861	1103	39	0	4678	0	PHRF1	11	610707	In_Frame_Del	DEL	GGA	TCGA-HU-A4H8-01A-11D-A25D-08		610707	134395809	786	146068											
CDHR5	53841	broad.mit.edu	37	chr11	619088	619088	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccagagctggtcgtggaggGtccctgggagggctcagggg	20	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:619088G>C	uc001lqj.2	-	13	1576	c.1471C>G	c.(1471-1473)CCC>GCC	p.P491A	CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.P325A|CDHR5_uc009ycd.2_Missense_Mutation_p.P485A|CDHR5_uc001lql.2_Missense_Mutation_p.P491A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	491	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GTCGTGGAGGGTCCCTGGGAG	0.701													C	619088	G	C	619088	3	2	283	1	0	0	0	0	1	0	0	0	3122	1261	44	5	1078	5	CDHR5	11	619088	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8381	619088	134387428	787	146069											
EFCAB4A	283229	broad.mit.edu	37	chr11	831623	831623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggctctgacaacagccCgcctgcctgggcccacctgc	12	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:831623C>T	uc001lrv.2	+	9	1492	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	EFCAB4A_uc009ycm.1_3'UTR|EFCAB4A_uc001lrw.2_Missense_Mutation_p.R437C|CD151_uc001lrx.2_5'Flank|CD151_uc001lry.2_5'Flank|CD151_uc001lrz.2_5'Flank|CD151_uc001lsa.2_5'Flank|CD151_uc001lsb.2_5'Flank			Q8N4Y2	EFC4A_HUMAN	RecName: Full=EF-hand calcium-binding domain-containing protein 4A;	372					store-operated calcium entry		calcium ion binding				0		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)		GACAACAGCCCGCCTGCCTGG	0.701													T	831623	C	T	831623	3	4	283	1	0	0	0	0	1	0	0	0	4936	667	23	1		1	EFCAB4A	11	831623	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	212535	831623	134174893	788	146070											
MUC6	4588	broad.mit.edu	37	chr11	1026075	1026075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgacgtggccctccccGtagagggtgcaggtggatgg	18	9	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1026075G>A	uc001lsw.2	-	21	2664	c.2613C>T	c.(2611-2613)TAC>TAT	p.Y871Y		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	871	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GGCCCTCCCCGTAGAGGGTGC	0.662													A	1026075	G	A	1026075	2	1	283	1	0	0	0	0	0	0	0	1	9980	1140	40	1		1	MUC6	11	1026075	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	194452	1026075	133980441	789	146071											
MUC2	4583	broad.mit.edu	37	chr11	1098738	1098738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctcgagcctggagtgcGccagtctgcaggcctacgca	15	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1098738G>A	uc001lsx.1	+	40	14221	c.14194G>A	c.(14194-14196)GCC>ACC	p.A4732T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4732						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		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)	CCTGGAGTGCGCCAGTCTGCA	0.652													A	1098738	G	A	1098738	3	1	283	1	0	0	0	0	1	0	0	0	9975	1087	38	1	7246	1	MUC2	11	1098738	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	72663	1098738	133907778	790	146072											
MUC5B	727897	broad.mit.edu	37	chr11	1266656	1266656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacacccagcaagacccGcacctcgaccctgctgccca	8	21	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1266656G>A	uc009ycr.1	+	49	10421	c.10295G>A	c.(10294-10296)CGC>CAC	p.R3432H	MUC5B_uc001ltb.2_Missense_Mutation_p.R2852H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2849	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		AGCAAGACCCGCACCTCGACC	0.687													A	1266656	G	A	1266656	3	1	283	1	0	0	0	0	1	0	0	0	9979	1087	38	1	8677	1	MUC5B	11	1266656	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	167918	1266656	133739860	791	146073											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606326	1606326	+	Frame_Shift_Del	DEL	C	C	-													ggttggcacacggcagcacaCgggcttgcagcagcagacgg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:1606325_1606325AC>A	uc001ltu.1	-	0	189	c.155_155GT>T	c.(154-156)gtgfs	p.V52fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	52	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)		ACGGCAGCACACGGGCTTGCA	0.682													-	1606326	C	-	1606326	7	5	283	1	0	1	0	1	0	0	0	0	8558	536	19	0	686	0	KRTAP5-1	11	1606326	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	339670	1606326	133400190	792	146074											
ART1	417	broad.mit.edu	37	chr11	3681156	3681156	+	Missense_Mutation	SNP	G	G	A													ggagttcaatgcagccgtgcGtgaggcgggccgctcccggg					rs148703944	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:3681156G>A	uc001lye.1	+	3	508	c.407G>A	c.(406-408)CGT>CAT	p.R136H	ART1_uc009yeb.1_Missense_Mutation_p.R136H	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	136					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GCAGCCGTGCGTGAGGCGGGC	0.667													A	3681156	G	A	3681156	3	1	283	1	0	0	0	0	1	0	0	0	997	1145	40	1	413	1	ART1	11	3681156	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2074830	3681156	131325360	793	146075	776	2									
ART1	417	broad.mit.edu	37	chr11	3681163	3681163	+	Silent	SNP	G	G	A													aatgcagccgtgcgtgaggcGggccgctcccgggcccacta							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:3681163G>A	uc001lye.1	+	3	515	c.414G>A	c.(412-414)GCG>GCA	p.A138A	ART1_uc009yeb.1_Silent_p.A138A	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	138					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TGCGTGAGGCGGGCCGCTCCC	0.667													A	3681163	G	A	3681163	2	1	283	1	0	0	0	0	0	0	0	1	997	1103	39	1		1	ART1	11	3681163	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7	3681163	131325353	794	146076	776	2									
OR51F2	119694	broad.mit.edu	37	chr11	4843637	4843637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattagagataaagccatttAtgaataagtgctttgctaca	8	5	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:4843637A>G	uc010qyn.1	+	1	1022	c.1022A>G	c.(1021-1023)TAT>TGT	p.Y341C		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	341	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		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)		AAAGCCATTTATGAATAAGTG	0.353													G	4843637	A	G	4843637	3	3	283	1	0	0	0	0	1	0	0	0	11097	449	16	3	1024	3	OR51F2	11	4843637	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1162474	4843637	130162879	795	146077											
OR51I1	390063	broad.mit.edu	37	chr11	5462477	5462477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcaacatggttgtagtTgaagcagaaagtagaaatca	10	5	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:5462477T>C	uc010qze.1	-	1	268	c.268A>G	c.(268-270)AAC>GAC	p.N90D	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTGTAGTTGAAGCAGAAA	0.468													C	5462477	T	C	5462477	3	2	283	1	0	0	0	0	1	0	0	0	11100	1812	63	3	680	3	OR51I1	11	5462477	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	618840	5462477	129544039	796	146078											
RIC3	79608	broad.mit.edu	37	chr11	8161539	8161540	+	Frame_Shift_Ins	INS	-	-	A													tagaatgtacagtatatataINSaaaaaatcccaaaaccgtag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:8161538_8161539T>TA	uc010rbm.1	-	1	380_381	c.326_327A>TA	c.(325-327)ttafs	p.L109fs	RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Frame_Shift_Ins_p.L59fs|RIC3_uc001mgd.2_Frame_Shift_Ins_p.L109fs|RIC3_uc001mgc.2_Frame_Shift_Ins_p.L109fs|RIC3_uc009yfm.2_Frame_Shift_Ins_p.L109fs|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Frame_Shift_Ins_p.L109fs	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	109						Golgi membrane|endoplasmic reticulum 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)		ACAGTATATATAAAAAAATCCC	0.351													A	8161540	-	A	8161539	7	5	283	1	0	1	1	0	0	0	0	0	13354	372	13	0	800	0	RIC3	11	8161539	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	2699062	8161539	126844977	797	146079											
PIK3C2A	5286	broad.mit.edu	37	chr11	17143869	17143869	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataatatcaaatgcaggagaAggaaaatcaacctttaaaat	6	5	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:17143869A>C	uc001mmq.3	-	14	2589	c.2523T>G	c.(2521-2523)CCT>CCG	p.P841P	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.P461P|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	841					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			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ATGCAGGAGAAGGAAAATCAA	0.299													C	17143869	A	C	17143869	2	2	283	1	0	0	0	0	0	0	0	1	11909	59	3	5		5	PIK3C2A	11	17143869	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	8982330	17143869	117862647	798	146080											
USH1C	10083	broad.mit.edu	37	chr11	17522630	17522630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccccgctcatacacaGcagaaacgaccaccttccca	5	19	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:17522630G>A	uc001mnf.2	-	18	1557	c.1448C>T	c.(1447-1449)GCT>GTT	p.A483V	USH1C_uc001mne.2_Missense_Mutation_p.A783V|USH1C_uc009yhb.2_Missense_Mutation_p.A464V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.A447V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	483	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			ovary(1)	1						CTCATACACAGCAGAAACGAC	0.592													A	17522630	G	A	17522630	3	1	283	1	0	0	0	0	1	0	0	0	17031	971	34	2	371	2	USH1C	11	17522630	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	378761	17522630	117483886	799	146081											
MYOD1	4654	broad.mit.edu	37	chr11	17741783	17741783	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtggagatcctgcgcAacgccatccgctatatcgag	11	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:17741783A>G	uc001mni.2	+	1	674	c.454A>G	c.(454-456)AAC>GAC	p.N152D		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	152	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						GATCCTGCGCAACGCCATCCG	0.592													G	17741783	A	G	17741783	3	3	283	1	0	0	0	0	1	0	0	0	10088	130	5	3	456	3	MYOD1	11	17741783	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	219153	17741783	117264733	800	146082											
PTPN5	84867	broad.mit.edu	37	chr11	18765600	18765600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggctgctcctgacagtgaGggagtggctcccagcgcctc	14	14	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:18765600G>T	uc001mpd.2	-	4	675	c.244C>A	c.(244-246)CTC>ATC	p.L82I	PTPN5_uc001mpb.2_Missense_Mutation_p.L82I|PTPN5_uc001mpc.2_Missense_Mutation_p.L82I|PTPN5_uc001mpe.2_Missense_Mutation_p.L82I|PTPN5_uc010rdj.1_Missense_Mutation_p.L58I|PTPN5_uc001mpf.2_Missense_Mutation_p.L58I|PTPN5_uc010rdk.1_Missense_Mutation_p.L27I	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	82						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						CTGACAGTGAGGGAGTGGCTC	0.652													T	18765600	G	T	18765600	3	4	283	1	0	0	0	0	1	0	0	0	12791	1000	35	5	1501	5	PTPN5	11	18765600	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1023817	18765600	116240916	801	146083											
NAV2	89797	broad.mit.edu	37	chr11	19901479	19901479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctctcccgatacaagcaGcagcagcagcagccccagaa	9	16	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:19901479G>A	uc010rdm.1	+	5	937	c.576G>A	c.(574-576)CAG>CAA	p.Q192Q	NAV2_uc001mpp.2_Silent_p.Q128Q|NAV2_uc001mpr.3_Silent_p.Q192Q	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	192	CH.|Gln-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GATACAagcagcagcagcagc	0.507													A	19901479	G	A	19901479	2	1	283	1	0	0	0	0	0	0	0	1	10184	962	34	2		2	NAV2	11	19901479	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1135879	19901479	115105037	802	146084											
LUZP2	338645	broad.mit.edu	37	chr11	25004729	25004729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttgacatctgttttcCgtgatcagcctcctccccct	6	16	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:25004729C>T	uc001mqs.2	+	9	889	c.655C>T	c.(655-657)CGT>TGT	p.R219C	LUZP2_uc009yif.2_Missense_Mutation_p.R133C|LUZP2_uc009yig.2_Missense_Mutation_p.R177C	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	219						extracellular region				ovary(1)|skin(1)	2						ATCTGTTTTCCGTGATCAGCC	0.438													T	25004729	C	T	25004729	3	4	283	1	0	0	0	0	1	0	0	0	9087	652	23	1	689	1	LUZP2	11	25004729	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5103250	25004729	110001787	803	146085											
KCNA4	3739	broad.mit.edu	37	chr11	30033224	30033224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgacgagatccctgtcGtccctaaactcaggcaaggt	10	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:30033224G>A	uc001msk.2	-	2	2154	c.1002C>T	c.(1000-1002)GAC>GAT	p.D334D		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	334						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GATCCCTGTCGTCCCTAAACT	0.517													A	30033224	G	A	30033224	2	1	283	1	0	0	0	0	0	0	0	1	8005	1136	40	1		1	KCNA4	11	30033224	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5028495	30033224	104973292	804	146086											
FBXO3	26273	broad.mit.edu	37	chr11	33792304	33792304	+	Frame_Shift_Del	DEL	T	T	-													cactcagatatcagccagtaTtttttgcaatgtcttctcca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:33792304delT	uc001muz.2	-	2	205	c.177delA	c.(175-177)AAAfs	p.K59fs	FBXO3_uc001muy.2_5'UTR|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Frame_Shift_Del_p.K59fs|FBXO3_uc001mvb.1_Frame_Shift_Del_p.K54fs|FBXO3_uc010rek.1_RNA	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	F-box only protein 3 isoform 1	59					proteolysis	nucleus	ubiquitin-protein ligase activity			pancreas(1)	1		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCAGCCAGTATTTTTTGCAAT	0.294													-	33792304	T	-	33792304	7	5	283	1	0	1	0	1	0	0	0	0	5739	1490	52	0	1287	0	FBXO3	11	33792304	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	3759080	33792304	101214212	805	146087											
TP53I11	9537	broad.mit.edu	37	chr11	44957180	44957180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgatgaccttctcagccGtgtagagagcgttccacatg	11	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:44957180G>A	uc001myi.2	-	9	973	c.368C>T	c.(367-369)ACG>ATG	p.T123M	TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Missense_Mutation_p.T123M|TP53I11_uc001myk.2_Missense_Mutation_p.T123M|TP53I11_uc001myl.2_Missense_Mutation_p.T123M|TP53I11_uc001mym.2_Missense_Mutation_p.T70M	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	123	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						CTTCTCAGCCGTGTAGAGAGC	0.612													A	44957180	G	A	44957180	3	1	283	1	0	0	0	0	1	0	0	0	16382	1145	40	1	209	1	TP53I11	11	44957180	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	11164876	44957180	90049336	806	146088											
SLC35C1	55343	broad.mit.edu	37	chr11	45827874	45827874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatgccctgctcacctgCggtatcatcatcggtgagtg	10	12	4	1	rs141379070	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:45827874C>T	uc001nbp.2	+	1	1234	c.522C>T	c.(520-522)TGC>TGT	p.C174C	SLC35C1_uc001nbo.2_Silent_p.C161C|SLC35C1_uc010rgm.1_Silent_p.C161C	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	174	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		TGCTCACCTGCGGTATCATCA	0.522													T	45827874	C	T	45827874	2	4	283	1	0	0	0	0	0	0	0	1	14579	776	27	1		1	SLC35C1	11	45827874	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	870694	45827874	89178642	807	146089											
PSMC3	5702	broad.mit.edu	37	chr11	47440673	47440674	+	Frame_Shift_Del	DEL	CA	CA	-													agctgaccactcaccgcctcCacacacacagccttgcactg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:47440672_47440673CCA>C	uc001nfh.2	-	10	1397_1398	c.1203_1204TGG>G	c.(1201-1206)gtggagfs	p.V401fs		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	401					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTCACCGCCTCCACACACACAG	0.624													-	47440674	CA	-	47440673	7	5	283	1	0	1	0	1	0	0	0	0	12687	581	21	0	124	0	PSMC3	11	47440673	Frame_Shift_Del	DEL	CA	TCGA-HU-A4H8-01A-11D-A25D-08	1612799	47440673	87565843	808	146090											
KBTBD4	55709	broad.mit.edu	37	chr11	47599371	47599371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgagctgagaggaccaGccgatggagctgaaactccc	13	12	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:47599371G>T	uc001nfx.2	-	2	352	c.181C>A	c.(181-183)CTG>ATG	p.L61M	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.L86M|KBTBD4_uc001nfz.2_Missense_Mutation_p.L77M|KBTBD4_uc001nfy.2_Missense_Mutation_p.L61M|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	61	BTB.									ovary(1)|central_nervous_system(1)	2						GAGAGGACCAGCCGATGGAGC	0.557													T	47599371	G	T	47599371	3	4	283	1	0	0	0	0	1	0	0	0	7995	962	34	5	1387	5	KBTBD4	11	47599371	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	158698	47599371	87407145	809	146091											
OR5D18	219438	broad.mit.edu	37	chr11	55587822	55587822	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtgggcgccgcaaagccttCtccacctgtgcctcccacct	9	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:55587822C>T	uc010rin.1	+	1	717	c.717C>T	c.(715-717)TTC>TTT	p.F239F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				GCAAAGCCTTCTCCACCTGTG	0.498													T	55587822	C	T	55587822	2	4	283	1	0	0	0	0	0	0	0	1	11157	912	32	4		4	OR5D18	11	55587822	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	7988451	55587822	79418694	810	146092											
OR5M9	390162	broad.mit.edu	37	chr11	56229955	56229955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactacagttttactgcctcAcatatgtcttggtgattgct	7	10	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:56229955A>G	uc010rjj.1	-	1	923	c.923T>C	c.(922-924)GTG>GCG	p.V308A		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TTACTGCCTCACATATGTCTT	0.358													G	56229955	A	G	56229955	3	3	283	1	0	0	0	0	1	0	0	0	11177	159	6	3	11	3	OR5M9	11	56229955	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	642133	56229955	78776561	811	146093											
OR5M3	219482	broad.mit.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-													acaaccagcataagtaattgTttttttatctgataacaggt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					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)					ATAAGTAATTGTTTTTTTATC	0.363													-	56237709	T	-	56237709	7	5	283	1	0	1	0	1	0	0	0	0	11175	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	7754	56237709	78768807	812	146094											
OR5M10	390167	broad.mit.edu	37	chr11	56345173	56345173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagaatgaattctgtcaCtatggtgtggtttggggaca	13	4	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:56345173C>T	uc001niz.1	-	1	25	c.25G>A	c.(25-27)GTG>ATG	p.V9M		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AATTCTGTCACTATGGTGTGG	0.428													T	56345173	C	T	56345173	3	4	283	1	0	0	0	0	1	0	0	0	11173	565	20	4	926	4	OR5M10	11	56345173	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	107464	56345173	78661343	813	146095											
APLNR	187	broad.mit.edu	37	chr11	57003530	57003530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaggtgcaggcctggcGgaagcgggggtcgaaaaagg	20	7	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:57003530G>A	uc001njo.2	-	1	1398	c.949C>T	c.(949-951)CGC>TGC	p.R317C	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	317	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						CAGGCCTGGCGGAAGCGGGGG	0.602													A	57003530	G	A	57003530	3	1	283	1	0	0	0	0	1	0	0	0	777	1116	39	1	197	1	APLNR	11	57003530	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	658357	57003530	78002986	814	146096											
PATL1	219988	broad.mit.edu	37	chr11	59421493	59421493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgatgcaagagtcgacGgtgctgtggatggaggtgag	17	6	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:59421493G>A	uc001noe.3	-	9	1227	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C	PATL1_uc009yms.1_Missense_Mutation_p.R332C|PATL1_uc010rkw.1_Missense_Mutation_p.R67C	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	362	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						AAGAGTCGACGGTGCTGTGGA	0.423													A	59421493	G	A	59421493	3	1	283	1	0	0	0	0	1	0	0	0	11475	1116	39	1	1272	1	PATL1	11	59421493	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2417963	59421493	75585023	815	146097											
VWCE	220001	broad.mit.edu	37	chr11	61044094	61044094	+	Frame_Shift_Del	DEL	G	G	-													aagtacagcaatccgtctgtGggggggtctgacaggggcca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:61044093_61044093TG>T	uc001nra.3	-	10	1746	c.1467_1467CA>A	c.(1465-1467)ccafs	p.P489fs	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	489	VWFC 2.					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						AATCCGTCTGTGGGGGGGTCT	0.507													-	61044094	G	-	61044094	7	5	283	1	0	1	0	1	0	0	0	0	17242	1348	47	0	1441	0	VWCE	11	61044094	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1622601	61044094	73962422	816	146098											
INCENP	3619	broad.mit.edu	37	chr11	61895678	61895678	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcacctgctggagctatgTgaccagaagctcatggagtt	11	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:61895678T>C	uc001nsw.1	+	2	247	c.45T>C	c.(43-45)TGT>TGC	p.C15C	INCENP_uc009ynv.2_Silent_p.C15C|INCENP_uc009ynw.1_Silent_p.C15C|INCENP_uc001nsx.1_Silent_p.C15C	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	15					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						TGGAGCTATGTGACCAGAAGC	0.562													C	61895678	T	C	61895678	2	2	283	1	0	0	0	0	0	0	0	1	7733	1702	59	3		3	INCENP	11	61895678	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	851584	61895678	73110838	817	146099											
GPR137	56834	broad.mit.edu	37	chr11	64054075	64054075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgaccctggggctgAcagctgcctacaccaccctg	11	16	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64054075A>G	uc001nzg.1	+	2	387	c.79A>G	c.(79-81)ACA>GCA	p.T27A	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.T33A|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.T85A|GPR137_uc001nze.1_Missense_Mutation_p.T27A|GPR137_uc001nzf.2_Missense_Mutation_p.T27A|GPR137_uc001nzh.1_Missense_Mutation_p.T27A|GPR137_uc001nzi.2_Missense_Mutation_p.T27A|GPR137_uc010rnj.1_Missense_Mutation_p.T27A	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	27	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						CCTGGGGCTGACAGCTGCCTA	0.617													G	64054075	A	G	64054075	3	3	283	1	0	0	0	0	1	0	0	0	6645	275	10	3	263	3	GPR137	11	64054075	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2158397	64054075	70952441	818	146100											
RASGRP2	10235	broad.mit.edu	37	chr11	64507638	64507638	+	Splice_Site	DEL	G	G	-													ttccacttgtaggtagggctGggggggcaggggtagtgagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64507637_64507637TG>T	uc009ypu.3	-	6	599	c.372_splice	c.e6-1	p.V124_splice	RASGRP2_uc001oat.3_Frame_Shift_Del_p.S26fs|RASGRP2_uc001oau.3_Splice_Site|RASGRP2_uc009ypv.3_Splice_Site_p.V124_splice|RASGRP2_uc009ypw.3_Splice_Site_p.V124_splice	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	124	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|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						TAGGTAGGGCTGGGGGGGCAG	0.572													-	64507638	G	-	64507638	8	5	283	1	0	1	0	1	0	0	1	0	13075	1363	47	0		0	RASGRP2	11	64507638	Splice_Site	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	453563	64507638	70498878	819	146101											
PPP2R5B	5526	broad.mit.edu	37	chr11	64701224	64701224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggtctggaggagctgCggctacgccggctacagggg	19	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64701224C>T	uc001oby.2	+	14	1987	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	PPP2R5B_uc001obz.2_Missense_Mutation_p.R468W	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	468					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GGAGGAGCTGCGGCTACGCCG	0.692													T	64701224	C	T	64701224	3	4	283	1	0	0	0	0	1	0	0	0	12393	759	27	1	1452	1	PPP2R5B	11	64701224	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	193586	64701224	70305292	820	146102											
CAPN1	823	broad.mit.edu	37	chr11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgcagcttcgtgctcGcccttatgcagaagcaccgt	11	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:64972252G>A	uc009yqd.1	+	11	1375	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	CAPN1_uc001odf.1_Missense_Mutation_p.A422T|CAPN1_uc001odg.1_Missense_Mutation_p.A422T|CAPN1_uc010roa.1_Missense_Mutation_p.A163T	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	422	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTTCGTGCTCGCCCTTATGCA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	64972252	G	A	64972252	3	1	283	1	0	0	0	0	1	0	0	0	2622	1087	38	1	1302	1	CAPN1	11	64972252	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	271028	64972252	70034264	821	146103											
PCNXL3	399909	broad.mit.edu	37	chr11	65386337	65386337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgctaaaacacatgccCgtgtgctgagcatggatggg	13	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:65386337C>T	uc001oey.2	+	6	1504	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	502						integral to membrane		p.R383C(1)			0						AACACATGCCCGTGTGCTGAG	0.672													T	65386337	C	T	65386337	3	4	283	1	0	0	0	0	1	0	0	0	11593	652	23	1	1526	1	PCNXL3	11	65386337	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	414085	65386337	69620179	822	146104											
CST6	1474	broad.mit.edu	37	chr11	65780296	65780296	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctaccctatgcccccaGctggtggccggcatcaagta	10	17	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:65780296G>A	uc001ogr.2	+	2	295	c.241_splice	c.e2-1	p.L81_splice	CST6_uc001ogs.1_5'UTR	NM_001323	NP_001314	Q15828	CYTM_HUMAN	cystatin M precursor						anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						TATGCCCCCAGCTGGTGGCCG	0.597													A	65780296	G	A	65780296	5	1	283	1	0	0	0	0	0	0	1	0	3976	985	34	2	246	2	CST6	11	65780296	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	393959	65780296	69226220	823	146105											
SF3B2	10992	broad.mit.edu	37	chr11	65822672	65822672	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccacccaccaaatttgggGcccccgcctcctctccgtgt	8	20	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:65822672G>C	uc001ogy.1	+	4	424	c.384G>C	c.(382-384)GGG>GGC	p.G128G	SF3B2_uc001ogx.1_Silent_p.G128G	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	128					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CAAATTTGGGGCCCCCGCCTC	0.657													C	65822672	G	C	65822672	2	2	283	1	0	0	0	0	0	0	0	1	14151	1190	42	5		5	SF3B2	11	65822672	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	42376	65822672	69183844	824	146106											
CD248	57124	broad.mit.edu	37	chr11	66082550	66082550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaacttgggactggggCcatcttcccttgggatttgg	15	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66082550C>T	uc001ohm.1	-	1	1966	c.1949G>A	c.(1948-1950)GGC>GAC	p.G650D		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	650	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GGGACTGGGGCCATCTTCCCT	0.642													T	66082550	C	T	66082550	3	4	283	1	0	0	0	0	1	0	0	0	2989	739	26	2	328	2	CD248	11	66082550	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	259878	66082550	68923966	825	146107											
BRMS1	25855	broad.mit.edu	37	chr11	66108714	66108714	+	Frame_Shift_Del	DEL	C	C	-													atcttgaggctccgctgcagCcccccaaggggctccgtgta							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66108714delC	uc001ohp.1	-	4	468	c.321delG	c.(319-321)GGGfs	p.G107fs	BRMS1_uc001oho.1_Frame_Shift_Del_p.G107fs|BRMS1_uc009yre.2_5'Flank	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	107					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				0						TCCGCTGCAGCCCCCCAAGGG	0.627													-	66108714	C	-	66108714	7	5	283	1	0	1	0	1	0	0	0	0	1516	726	26	0	591	0	BRMS1	11	66108714	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	26164	66108714	68897802	826	146108											
SLC29A2	3177	broad.mit.edu	37	chr11	66136992	66136992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccggccccggccagtcgCgcctggaagtactgccaggt	14	15	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66136992C>T	uc001oht.2	-	3	352	c.123G>A	c.(121-123)GCG>GCA	p.A41A	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Silent_p.A41A|SLC29A2_uc001ohv.2_Silent_p.A41A|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	41					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						CGGCCAGTCGCGCCTGGAAGT	0.517													T	66136992	C	T	66136992	2	4	283	1	0	0	0	0	0	0	0	1	14535	755	27	1		1	SLC29A2	11	66136992	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	28278	66136992	68869524	827	146109											
PELI3	246330	broad.mit.edu	37	chr11	66238753	66238753	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggacaagggccgccggCgaagccgcctggcactgagc	18	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66238753C>T	uc001oic.3	+	4	429	c.265C>T	c.(265-267)CGA>TGA	p.R89*	PELI3_uc001oib.2_Nonsense_Mutation_p.R89*|PELI3_uc001oid.3_Nonsense_Mutation_p.R65*|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	89						cytosol	protein binding			ovary(1)	1						GGGCCGCCGGCGAAGCCGCCT	0.602													T	66238753	C	T	66238753	4	4	283	1	0	0	0	0	0	1	0	0	11723	760	27	1	275	1	PELI3	11	66238753	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	101761	66238753	68767763	828	146110											
PELI3	246330	broad.mit.edu	37	chr11	66238826	66238826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatgcaccacatctccaCgccgctcgtctccaaggcaa	7	18	3	0	rs150549632		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66238826C>T	uc001oic.3	+	4	502	c.338C>T	c.(337-339)ACG>ATG	p.T113M	PELI3_uc001oib.2_Missense_Mutation_p.T113M|PELI3_uc001oid.3_Missense_Mutation_p.T89M|PELI3_uc001oie.3_Translation_Start_Site|PELI3_uc010rpd.1_5'Flank	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	113						cytosol	protein binding			ovary(1)	1						CACATCTCCACGCCGCTCGTC	0.672													T	66238826	C	T	66238826	3	4	283	1	0	0	0	0	1	0	0	0	11723	536	19	1	348	1	PELI3	11	66238826	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	73	66238826	68767690	829	146111											
DPP3	10072	broad.mit.edu	37	chr11	66258805	66258805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggtgacccggggggActacgcgcccatcctccaga	12	15	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66258805A>G	uc001oig.1	+	7	811	c.749A>G	c.(748-750)GAC>GGC	p.D250G	DPP3_uc001oif.1_Missense_Mutation_p.D250G|DPP3_uc010rpe.1_Missense_Mutation_p.D239G	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	250					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						ACCCGGGGGGACTACGCGCCC	0.622											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	66258805	A	G	66258805	3	3	283	1	0	0	0	0	1	0	0	0	4728	275	10	3	771	3	DPP3	11	66258805	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	19979	66258805	68747711	830	146112											
SPTBN2	6712	broad.mit.edu	37	chr11	66460058	66460058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggccgccaccacctcGcgctcctggatccactgttc	11	17	0	0	rs146602750		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66460058G>A	uc001ojd.2	-	25	5211	c.5139C>T	c.(5137-5139)CGC>CGT	p.R1713R		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1713	Spectrin 14.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCACCACCTCGCGCTCCTGGA	0.667													A	66460058	G	A	66460058	2	1	283	1	0	0	0	0	0	0	0	1	15119	1074	38	1		1	SPTBN2	11	66460058	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	201253	66460058	68546458	831	146113											
SPTBN2	6712	broad.mit.edu	37	chr11	66461675	66461675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcaggcgccggcagcGttcccgcatgggctggcaca	15	15	0	0	rs113974204		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66461675G>A	uc001ojd.2	-	21	4510	c.4438C>T	c.(4438-4440)CGC>TGC	p.R1480C		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1480	Spectrin 11.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CGCCGGCAGCGTTCCCGCATG	0.652											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66461675	G	A	66461675	3	1	283	1	0	0	0	0	1	0	0	0	15119	1145	40	1	2802	1	SPTBN2	11	66461675	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1617	66461675	68544841	832	146114											
PC	5091	broad.mit.edu	37	chr11	66618613	66618613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtcggccacgtcgccCgtgtatgagatggcagcctc	15	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66618613C>T	uc001ojn.1	-	15	2170	c.2121G>A	c.(2119-2121)ACG>ACA	p.T707T	PC_uc001ojo.1_Silent_p.T707T|PC_uc001ojp.1_Silent_p.T707T|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	707	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCACGTCGCCCGTGTATGAGA	0.617													T	66618613	C	T	66618613	2	4	283	1	0	0	0	0	0	0	0	1	11497	639	23	1		1	PC	11	66618613	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	156938	66618613	68387903	833	146115											
SYT12	91683	broad.mit.edu	37	chr11	66807455	66807455	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccggaagtcccagtcggcCgactccctgaactccatctc	8	18	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:66807455C>A	uc009yrl.2	+	4	632	c.402C>A	c.(400-402)GCC>GCA	p.A134A	SYT12_uc001oju.2_Silent_p.A134A	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	134	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						CCCAGTCGGCCGACTCCCTGA	0.617													A	66807455	C	A	66807455	2	1	283	1	0	0	0	0	0	0	0	1	15465	639	23	5		5	SYT12	11	66807455	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	188842	66807455	68199061	834	146116											
IGHMBP2	3508	broad.mit.edu	37	chr11	68675696	68675696	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtcacccagaagtcgGtcacggtggcctttgatgag	14	12	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:68675696G>C	uc001ook.1	+	3	442	c.340G>C	c.(340-342)GTC>CTC	p.V114L	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	114					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				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCAGAAGTCGGTCACGGTGGC	0.517													C	68675696	G	C	68675696	3	2	283	1	0	0	0	0	1	0	0	0	7591	1261	44	5	350	5	IGHMBP2	11	68675696	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1868241	68675696	66330820	835	146117											
FGF4	2249	broad.mit.edu	37	chr11	69588116	69588116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgaccttcatggtgggCgacactcggttccccttctt	12	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:69588116C>T	uc001opg.1	-	3	901	c.582G>A	c.(580-582)TCG>TCA	p.S194S	FGF4_uc010rqj.1_3'UTR	NM_002007	NP_001998	P08620	FGF4_HUMAN	fibroblast growth factor 4 precursor	194					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding				0	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TCATGGTGGGCGACACTCGGT	0.607													T	69588116	C	T	69588116	2	4	283	1	0	0	0	0	0	0	0	1	5854	755	27	1		1	FGF4	11	69588116	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	912420	69588116	65418400	836	146118											
CTTN	2017	broad.mit.edu	37	chr11	70266592	70266592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgggatcaccaggagaaaTtgcagctgcatgaatcccaa	11	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:70266592T>A	uc001opv.3	+	10	972	c.766T>A	c.(766-768)TTG>ATG	p.L256M	CTTN_uc001opu.2_Missense_Mutation_p.L256M|CTTN_uc001opw.3_Missense_Mutation_p.L256M|CTTN_uc010rqm.1_Translation_Start_Site|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	256	Cortactin 5.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			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)		CCAGGAGAAATTGCAGCTGCA	0.448													A	70266592	T	A	70266592	3	1	283	1	0	0	0	0	1	0	0	0	4044	1490	52	5	796	5	CTTN	11	70266592	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	678476	70266592	64739924	837	146119											
PDE2A	5138	broad.mit.edu	37	chr11	72295262	72295262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgggcgatgctgatgcCgcagtagatggagaaggccg	16	9	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:72295262C>T	uc010rrc.1	-	19	1876	c.1633G>A	c.(1633-1635)GGC>AGC	p.G545S	PDE2A_uc001oso.2_Missense_Mutation_p.G524S|PDE2A_uc010rra.1_Missense_Mutation_p.G538S|PDE2A_uc001osn.2_Missense_Mutation_p.G289S|PDE2A_uc010rrb.1_Missense_Mutation_p.G536S|PDE2A_uc010rrd.1_Missense_Mutation_p.G430S	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	545	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			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATGCTGATGCCGCAGTAGATG	0.637													T	72295262	C	T	72295262	3	4	283	1	0	0	0	0	1	0	0	0	11636	652	23	1	1244	1	PDE2A	11	72295262	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2028670	72295262	62711254	838	146120											
FCHSD2	9873	broad.mit.edu	37	chr11	72600987	72600987	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttctgattctaactgtcGgctctacaatacaagagaga	8	8	3	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:72600987G>A	uc009ytl.2	-	11	1149	c.928C>T	c.(928-930)CGA>TGA	p.R310*	FCHSD2_uc010rrg.1_Nonsense_Mutation_p.R174*|FCHSD2_uc001oth.3_Nonsense_Mutation_p.R254*|FCHSD2_uc001oti.2_Nonsense_Mutation_p.R269*	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	310							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTAACTGTCGGCTCTACAAT	0.418													A	72600987	G	A	72600987	4	1	283	1	0	0	0	0	0	1	0	0	5790	1124	39	1	1334	1	FCHSD2	11	72600987	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	305725	72600987	62405529	839	146121											
C2CD3	26005	broad.mit.edu	37	chr11	73809298	73809298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgagaaatcttagcaTctctagagggggagaaattg	14	6	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:73809298T>C	uc001ouu.2	-	16	2962	c.2735A>G	c.(2734-2736)GAT>GGT	p.D912G		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	912						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					AATCTTAGCATCTCTAGAGGG	0.408													C	73809298	T	C	73809298	3	2	283	1	0	0	0	0	1	0	0	0	2154	1435	50	3	3220	3	C2CD3	11	73809298	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1208311	73809298	61197218	840	146122											
C2CD3	26005	broad.mit.edu	37	chr11	73811695	73811695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaagcctttccaggtaTttggaagacagagagacagg	11	7	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:73811695T>C	uc001ouu.2	-	15	2834	c.2607A>G	c.(2605-2607)AAA>AAG	p.K869K		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	869						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TTTCCAGGTATTTGGAAGACA	0.403													C	73811695	T	C	73811695	2	2	283	1	0	0	0	0	0	0	0	1	2154	1490	52	3		3	C2CD3	11	73811695	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	2397	73811695	61194821	841	146123											
POLD3	10714	broad.mit.edu	37	chr11	74347278	74347278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaagaaaacgaaaacgcGtactaaaatctaaaacttac	4	8	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:74347278G>A	uc001ovf.1	+	11	1231	c.1156G>A	c.(1156-1158)GTA>ATA	p.V386I	POLD3_uc009yua.1_Missense_Mutation_p.V280I	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	386					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			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					ACGAAAACGCGTACTAAAATC	0.363													A	74347278	G	A	74347278	3	1	283	1	0	0	0	0	1	0	0	0	12192	1145	40	1	1198	1	POLD3	11	74347278	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	535583	74347278	60659238	842	146124											
NEU3	10825	broad.mit.edu	37	chr11	74705645	74705645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctaccggatcccagccctGctctacataccccccaccca	4	22	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:74705645G>A	uc001ovw.2	+	2	342	c.186G>A	c.(184-186)CTG>CTA	p.L62L	NEU3_uc001ovv.2_Silent_p.L52L|NEU3_uc010rrl.1_Intron	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	62										ovary(2)	2						TCCCAGCCCTGCTCTACATAC	0.562													A	74705645	G	A	74705645	2	1	283	1	0	0	0	0	0	0	0	1	10343	1306	46	2		2	NEU3	11	74705645	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	358367	74705645	60300871	843	146125											
OR2AT4	341152	broad.mit.edu	37	chr11	74800161	74800162	+	Frame_Shift_Ins	INS	-	-	G													cagaagcccatgagggtctgINSgggggtggtgtcagagcagg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:74800160_74800161T>TG	uc010rro.2	-	0	598_599	c.598_599A>CA	c.(598-600)cagfs	p.Q200fs		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	200					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						CATGAGGGTCTGGGGGGTGGTG	0.569													G	74800162	-	G	74800161	7	5	283	1	0	1	1	0	0	0	0	0	10987	1357	47	0	367	0	OR2AT4	11	74800161	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	94516	74800161	60206355	844	146126											
CAPN5	726	broad.mit.edu	37	chr11	76829322	76829322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgcatggcgcctggaCgctgcatgaggacccgcgac	15	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:76829322C>T	uc001oxx.2	+	8	1276	c.1091C>T	c.(1090-1092)ACG>ATG	p.T364M	CAPN5_uc009yup.2_Missense_Mutation_p.T404M|CAPN5_uc009yuq.2_Missense_Mutation_p.T400M|CAPN5_uc001oxy.2_Missense_Mutation_p.T404M|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	364	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						GGCGCCTGGACGCTGCATGAG	0.622													T	76829322	C	T	76829322	3	4	283	1	0	0	0	0	1	0	0	0	2629	536	19	1	1117	1	CAPN5	11	76829322	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2029161	76829322	58177194	845	146127											
MYO7A	4647	broad.mit.edu	37	chr11	76893012	76893012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctggagcgagggCggagggagatggtggaggag	22	5	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:76893012C>T	uc001oyb.2	+	24	3192	c.2920C>T	c.(2920-2922)CGG>TGG	p.R974W	MYO7A_uc010rsl.1_Missense_Mutation_p.R974W|MYO7A_uc010rsm.1_Missense_Mutation_p.R963W|MYO7A_uc001oyc.2_Missense_Mutation_p.R974W|MYO7A_uc001oyd.2_Missense_Mutation_p.R314W|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.R185W	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	974					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			ovary(3)|breast(1)	4						GGAGCGAGGGCGGAGGGAGAT	0.413													T	76893012	C	T	76893012	3	4	283	1	0	0	0	0	1	0	0	0	10082	759	27	1	3010	1	MYO7A	11	76893012	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	63690	76893012	58113504	846	146128											
INTS4	92105	broad.mit.edu	37	chr11	77669839	77669839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagataagctggactgcagcActgcgcacttgttcatagtc	10	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:77669839A>G	uc001oys.2	-	7	778	c.750T>C	c.(748-750)AGT>AGC	p.S250S	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Silent_p.S250S	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	250	HEAT 4.				snRNA processing	integrator complex	protein binding			ovary(2)	2	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)			GGACTGCAGCACTGCGCACTT	0.453													G	77669839	A	G	77669839	2	3	283	1	0	0	0	0	0	0	0	1	7780	156	6	3		3	INTS4	11	77669839	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	776827	77669839	57336677	847	146129											
ANKRD42	338699	broad.mit.edu	37	chr11	82947533	82947533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacaaagcaggggagagacCcagtgatgtggcaaagaggt	15	7	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:82947533C>A	uc001ozz.1	+	8	1339	c.917C>A	c.(916-918)CCC>CAC	p.P306H	ANKRD42_uc010rsv.1_Missense_Mutation_p.P334H|ANKRD42_uc001paa.2_Missense_Mutation_p.P334H|ANKRD42_uc001pab.1_Missense_Mutation_p.P333H	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	306	ANK 9.									skin(1)	1						GGGGAGAGACCCAGTGATGTG	0.383													A	82947533	C	A	82947533	3	1	283	1	0	0	0	0	1	0	0	0	670	623	22	5	947	5	ANKRD42	11	82947533	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5277694	82947533	52058983	848	146130											
TYR	7299	broad.mit.edu	37	chr11	88911656	88911656	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttatgacctctttgtctggAtgcattattatgtgtcaatg	8	6	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:88911656A>T	uc001pcs.2	+	1	617	c.535A>T	c.(535-537)ATG>TTG	p.M179L		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	179	Lumenal, melanosome (Potential).		M -> L (in OCA1A).	M -> I (in Ref. 4; CAA68756).	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			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTTTGTCTGGATGCATTATTA	0.433									Oculocutaneous_Albinism				T	88911656	A	T	88911656	3	4	283	1	0	0	0	0	1	0	0	0	16810	333	12	5	537	5	TYR	11	88911656	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	5964123	88911656	46094860	849	146131											
FAT3	120114	broad.mit.edu	37	chr11	92600035	92600035	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctcaaccgcaatttcacGagcctgtccctggatgacag	10	13	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:92600035G>A	uc001pdj.3	+	21	11804	c.11787G>A	c.(11785-11787)ACG>ACA	p.T3929T	FAT3_uc001pdi.3_Silent_p.T369T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3929	Laminin G-like.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAATTTCACGAGCCTGTCCC	0.642										TCGA Ovarian(4;0.039)			A	92600035	G	A	92600035	2	1	283	1	0	0	0	0	0	0	0	1	5691	1045	37	1		1	FAT3	11	92600035	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3688379	92600035	42406481	850	146132											
HEPHL1	341208	broad.mit.edu	37	chr11	93844981	93844981	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatcaccacggtgattctctCcctcagactctgctctgcaa	6	15	5	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:93844981C>G	uc001pep.2	+	20	3558	c.3401C>G	c.(3400-3402)TCC>TGC	p.S1134C	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1134	Helical; (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGATTCTCTCCCTCAGACTC	0.507													G	93844981	C	G	93844981	3	3	283	1	0	0	0	0	1	0	0	0	7055	855	30	5	3479	5	HEPHL1	11	93844981	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1244946	93844981	41161535	851	146133											
NPAT	4863	broad.mit.edu	37	chr11	108044068	108044069	+	Frame_Shift_Ins	INS	-	-	T													agaattttcacaaaattgacINStttttttagatggctttcca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:108044068_108044069insT	uc001pjz.3	-	13	1744_1745	c.1642_1643insA	c.(1642-1644)AGTfs	p.S548fs	NPAT_uc001pka.2_Frame_Shift_Ins_p.S343fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	548					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			ovary(2)	2		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)		ACAAAATTGACTTTTTTTAGAT	0.302													T	108044069	-	T	108044068	7	5	283	1	0	1	1	0	0	0	0	0	10566	565	20	0	2664	0	NPAT	11	108044068	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	14199087	108044068	26962448	852	146134	777	2									
NPAT	4863	broad.mit.edu	37	chr11	108044069	108044070	+	Frame_Shift_Ins	INS	-	-	T													gaattttcacaaaattgactINSttttttagatggctttccag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:108044068_108044069C>CT	uc001pjz.4	-	12	1744_1745	c.1642_1643G>AG	c.(1642-1644)agtfs	p.S548fs	NPAT_uc001pka.3_Frame_Shift_Ins_p.S343fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	548					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)		ACAAAATTGACTTTTTTTAGAT	0.302													T	108044070	-	T	108044069	7	5	283	1	0	1	1	0	0	0	0	0	10566	1609	56	0	2665	0	NPAT	11	108044069	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	108044069	26962447	853	146135	777	2									
LAYN	143903	broad.mit.edu	37	chr11	111425932	111425932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatgtgtctctctccagGtgaggaaacagagctgacaa	11	10	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:111425932G>A	uc001plr.1	+	6	935	c.599G>A	c.(598-600)GGT>GAT	p.G200D	LAYN_uc001plp.1_Missense_Mutation_p.G192D|LAYN_uc001plq.1_Missense_Mutation_p.G200D|LAYN_uc001pls.1_Missense_Mutation_p.G192D|LAYN_uc010rwg.1_Missense_Mutation_p.G47D|LAYN_uc010rwh.1_Missense_Mutation_p.G48D	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	200	Extracellular (Potential).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		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)		CTCTCTCCAGGTGAGGAAACA	0.398													A	111425932	G	A	111425932	3	1	283	1	0	0	0	0	1	0	0	0	8649	1275	44	4	593	4	LAYN	11	111425932	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3381863	111425932	23580584	854	146136											
HSPB2	3316	broad.mit.edu	37	chr11	111784474	111784475	+	Frame_Shift_Del	DEL	CT	CT	-													cccctggcgagtccgagctgCtctctcccatgatggcatct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:111784474_111784475delCT	uc001pmg.2	+	2	498_499	c.404_405delCT	c.(403-405)GCTfs	p.A135fs	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	135					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			ovary(2)|skin(1)	3		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)		GTCCGAGCTGCTCTCTCCCATG	0.629													-	111784475	CT	-	111784474	7	5	283	1	0	1	0	1	0	0	0	0	7420	797	28	0	410	0	HSPB2	11	111784474	Frame_Shift_Del	DEL	CT	TCGA-HU-A4H8-01A-11D-A25D-08	358542	111784474	23222042	855	146137											
DIXDC1	85458	broad.mit.edu	37	chr11	111851488	111851488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacccagtccaatccacaGtgcaaagagcgagtccatta	7	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:111851488G>A	uc001pml.2	+	6	980	c.683G>A	c.(682-684)AGT>AAT	p.S228N	DIXDC1_uc001pmm.2_Missense_Mutation_p.S17N|DIXDC1_uc001pmn.2_5'Flank	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	228	Actin-binding.				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			ovary(1)	1		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)		CCAATCCACAGTGCAAAGAGC	0.398													A	111851488	G	A	111851488	3	1	283	1	0	0	0	0	1	0	0	0	4541	1029	36	4	732	4	DIXDC1	11	111851488	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	67014	111851488	23155028	856	146138											
FAM55D	54827	broad.mit.edu	37	chr11	114441770	114441770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccaggcatcaatgatacTcacactgagatcctggaaaa	7	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:114441770T>C	uc001ppc.2	-	6	1706	c.1525A>G	c.(1525-1527)AGT>GGT	p.S509G	FAM55D_uc001ppd.2_Missense_Mutation_p.S225G	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	509						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TCAATGATACTCACACTGAGA	0.343													C	114441770	T	C	114441770	3	2	283	1	0	0	0	0	1	0	0	0	5587	1551	54	3	113	3	FAM55D	11	114441770	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	2590282	114441770	20564746	857	146139											
ABCG4	64137	broad.mit.edu	37	chr11	119029555	119029555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtccccttagagatggcGgtcttcatgagggagcacct	12	11	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:119029555G>A	uc001pvs.2	+	12	1689	c.1353G>A	c.(1351-1353)GCG>GCA	p.A451A	ABCG4_uc009zar.2_Silent_p.A451A	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	451	ABC transmembrane type-2.|Cytoplasmic (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	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)		TAGAGATGGCGGTCTTCATGA	0.622													A	119029555	G	A	119029555	2	1	283	1	0	0	0	0	0	0	0	1	70	1103	39	1		1	ABCG4	11	119029555	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4587785	119029555	15976961	858	146140											
USP2	9099	broad.mit.edu	37	chr11	119243468	119243468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcccaggggcctgaccCtttcccgtctcccacagcgt	11	18	1	1	rs147455241		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:119243468C>A	uc001pwm.3	-	2	1018	c.723G>T	c.(721-723)AAG>AAT	p.K241N	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	241					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.K241K(1)		ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGGCCTGACCCTTTCCCGTCT	0.657													A	119243468	C	A	119243468	3	1	283	1	0	0	0	0	1	0	0	0	17048	680	24	5	1293	5	USP2	11	119243468	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	213913	119243468	15763048	859	146141											
CRTAM	56253	broad.mit.edu	37	chr11	122720827	122720827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtggaggaaggccagaCgctcactctaaagtgtgtca	12	11	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:122720827C>T	uc001pyj.2	+	2	98	c.98C>T	c.(97-99)ACG>ATG	p.T33M		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	33	Ig-like V-type.|Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAAGGCCAGACGCTCACTCTA	0.527													T	122720827	C	T	122720827	3	4	283	1	0	0	0	0	1	0	0	0	3897	536	19	1	104	1	CRTAM	11	122720827	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3477359	122720827	12285689	860	146142											
VWA5A	4013	broad.mit.edu	37	chr11	124007910	124007910	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaggggcctctggctcAtagggacgtcccaaggccaa	14	12	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124007910A>T	uc001pzu.2	+	15	2023	c.1814A>T	c.(1813-1815)CAT>CTT	p.H605L	VWA5A_uc001pzt.2_Missense_Mutation_p.H605L	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	605										upper_aerodigestive_tract(1)|ovary(1)	2						CCTCTGGCTCATAGGGACGTC	0.453													T	124007910	A	T	124007910	3	4	283	1	0	0	0	0	1	0	0	0	17239	217	8	5	1868	5	VWA5A	11	124007910	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1287083	124007910	10998606	861	146143											
OR8G2	26492	broad.mit.edu	37	chr11	124095512	124095512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagccagagctccagctgCgcctcttcctcctgttctta	7	16	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124095512C>T	uc010saf.1	+	1	115	c.115C>T	c.(115-117)CGC>TGC	p.R39C		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	39						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTCCAGCTGCGCCTCTTCCT	0.512													T	124095512	C	T	124095512	3	4	283	1	0	0	0	0	1	0	0	0	11235	768	27	1	117	1	OR8G2	11	124095512	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	87602	124095512	10911004	862	146144											
OR8D2	283160	broad.mit.edu	37	chr11	124189773	124189773	+	Frame_Shift_Del	DEL	A	A	-													aggtagccttctgcaattacAaaaataaggaagaaataaag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124189772_124189772CA>C	uc010sah.2	-	0	322	c.322_322TG>G	c.(322-324)gtafs	p.V108fs		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	108					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)		TCTGCAATTACAAAAATAAGG	0.418													-	124189773	A	-	124189773	7	5	283	1	0	1	0	1	0	0	0	0	11232	127	5	0	617	0	OR8D2	11	124189773	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	94261	124189773	10816743	863	146145											
ROBO3	64221	broad.mit.edu	37	chr11	124747920	124747921	+	Frame_Shift_Ins	INS	-	-	G													tatagcaccattgacccagcINSgggggaggagctgcagacct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124747920_124747921insG	uc001qbc.2	+	21	3266_3267	c.3074_3075insG	c.(3073-3075)GCGfs	p.A1025fs	ROBO3_uc010saq.1_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Frame_Shift_Ins_p.A74fs|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1025	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	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)		ATTGACCCAGCGGGGGAGGAGC	0.639													G	124747921	-	G	124747920	7	5	283	1	0	1	1	0	0	0	0	0	13515	768	27	0	3156	0	ROBO3	11	124747920	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	558147	124747920	10258596	864	146146											
CCDC15	80071	broad.mit.edu	37	chr11	124857646	124857647	+	Frame_Shift_Ins	INS	-	-	T													ttctacctaaggaccagaatINStttttgtctagagaccagca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:124857645_124857646A>AT	uc001qbm.4	+	7	1782_1783	c.1523_1524A>AT	c.(1522-1524)aatfs	p.N508fs		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	508						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)		AAGGACCAGAATTTTTTGTCTA	0.386													T	124857647	-	T	124857646	7	5	283	1	0	1	1	0	0	0	0	0	2784	1490	52	0	1550	0	CCDC15	11	124857646	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	109726	124857646	10148870	865	146147											
KCNJ5	3762	broad.mit.edu	37	chr11	128781366	128781366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacgtgcaccacggcaaCgtccaggagacctaccggta	11	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:128781366C>T	uc001qet.2	+	2	512	c.198C>T	c.(196-198)AAC>AAT	p.N66N	KCNJ5_uc009zck.2_Silent_p.N66N|KCNJ5_uc001qew.2_Silent_p.N66N	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	66	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	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)	ACCACGGCAACGTCCAGGAGA	0.592													T	128781366	C	T	128781366	2	4	283	1	0	0	0	0	0	0	0	1	8054	535	19	1		1	KCNJ5	11	128781366	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3923720	128781366	6225150	866	146148											
IGSF9B	22997	broad.mit.edu	37	chr11	133789980	133789980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcgagctcaggggagcCggtgcgggagctgagggggc	24	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:133789980C>T	uc001qgx.3	-	18	3871	c.3640G>A	c.(3640-3642)GGC>AGC	p.G1214S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1214	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	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)		TCAGGGGAGCCGGTGCGGGAG	0.701													T	133789980	C	T	133789980	3	4	283	1	0	0	0	0	1	0	0	0	7606	652	23	1	417	1	IGSF9B	11	133789980	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5008614	133789980	1216536	867	146149											
NCAPD3	23310	broad.mit.edu	37	chr11	134073687	134073687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacataatttcctgcaccaGgaacttatgctttaagaact	5	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr11:134073687G>T	uc001qhd.1	-	11	1936	c.1330C>A	c.(1330-1332)CTG>ATG	p.L444M	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	444	HEAT 1.				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	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)		TCCTGCACCAGGAACTTATGC	0.458													T	134073687	G	T	134073687	3	4	283	1	0	0	0	0	1	0	0	0	10206	991	35	5	3266	5	NCAPD3	11	134073687	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	283707	134073687	932829	868	146150											
CCDC77	84318	broad.mit.edu	37	chr12	550953	550953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctaggcaacagttaatgCccgggcaaaccaggatcttg	10	13	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:550953C>T	uc001qig.2	+	13	1514	c.1334C>T	c.(1333-1335)GCC>GTC	p.A445V	CCDC77_uc009zdk.2_Missense_Mutation_p.A413V|CCDC77_uc010sdp.1_Missense_Mutation_p.A413V|CCDC77_uc010sdq.1_Missense_Mutation_p.A413V	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	445	Potential.					centrosome				ovary(1)	1	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)			ACAGTTAATGCCCGGGCAAAC	0.433													T	550953	C	T	550953	3	4	283	1	0	0	0	0	1	0	0	0	2851	739	26	2	1376	2	CCDC77	12	550953	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		550953	133300942	869	146151											
FOXM1	2305	broad.mit.edu	37	chr12	2981273	2981273	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaattcaccttaacctgtcGctgctccaggtgacaattct	6	13	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:2981273G>A	uc001qlf.2	-	3	908	c.643C>T	c.(643-645)CGA>TGA	p.R215*	FOXM1_uc001qle.2_Nonsense_Mutation_p.R215*|FOXM1_uc001qlg.2_Nonsense_Mutation_p.R215*|FOXM1_uc009zea.2_Nonsense_Mutation_p.R214*|FOXM1_uc009zeb.2_Nonsense_Mutation_p.R214*	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	215					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|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 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			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTAACCTGTCGCTGCTCCAGG	0.493													A	2981273	G	A	2981273	4	1	283	1	0	0	0	0	0	1	0	0	6018	1095	38	1	1794	1	FOXM1	12	2981273	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2430320	2981273	130870622	870	146152											
NDUFA9	4704	broad.mit.edu	37	chr12	4764054	4764054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgacatcatgcaccttcGtcccatgggtgacctgggcc	10	13	1	2	rs71579254		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:4764054G>A	uc001qnc.2	+	3	294	c.284G>A	c.(283-285)CGT>CAT	p.R95H	NDUFA9_uc009zei.1_Missense_Mutation_p.R95H	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	95					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	ATGCACCTTCGTCCCATGGGT	0.403													A	4764054	G	A	4764054	3	1	283	1	0	0	0	0	1	0	0	0	10272	1145	40	1	294	1	NDUFA9	12	4764054	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1782781	4764054	129087841	871	146153											
IFFO1	25900	broad.mit.edu	37	chr12	6650743	6650743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtccaggccgcgcttcatGctgcacatctccatgtactc	8	16	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6650743G>A	uc001qpd.1	-	8	1543	c.1509C>T	c.(1507-1509)AGC>AGT	p.S503S	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Silent_p.S143S|IFFO1_uc001qpb.1_Silent_p.S180S|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.S515S|IFFO1_uc001qpf.1_Silent_p.S506S|IFFO1_uc001qoz.1_Silent_p.S144S|IFFO1_uc001qpc.1_Silent_p.S507S|IFFO1_uc001qpg.2_Silent_p.S144S	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	503						intermediate filament					0						CGCGCTTCATGCTGCACATCT	0.652													A	6650743	G	A	6650743	2	1	283	1	0	0	0	0	0	0	0	1	7510	1310	46	2		2	IFFO1	12	6650743	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1886689	6650743	127201152	872	146154											
NOP2	4839	broad.mit.edu	37	chr12	6672657	6672657	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatccgcttgtgaactcGttgcaggtctggagcctggg	15	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6672657G>A	uc001qph.1	-	8	880	c.700C>T	c.(700-702)CGA>TGA	p.R234*	NOP2_uc009zeq.1_Translation_Start_Site|NOP2_uc001qpi.1_Nonsense_Mutation_p.R234*|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	238					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TTGTGAACTCGTTGCAGGTCT	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6672657	G	A	6672657	4	1	283	1	0	0	0	0	0	1	0	0	10538	1153	40	1	1762	1	NOP2	12	6672657	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	21914	6672657	127179238	873	146155											
CHD4	1108	broad.mit.edu	37	chr12	6682399	6682399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaagtaagcagcccggcGcagctgttcctcaatcacca	9	14	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6682399G>A	uc001qpo.2	-	38	5562	c.5398C>T	c.(5398-5400)CGC>TGC	p.R1800C	CHD4_uc001qpn.2_Missense_Mutation_p.R1793C|CHD4_uc001qpp.2_Missense_Mutation_p.R1825C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1800	Required for interaction with PCNT.				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						GCAGCCCGGCGCAGCTGTTCC	0.512													A	6682399	G	A	6682399	3	1	283	1	0	0	0	0	1	0	0	0	3327	1087	38	1	352	1	CHD4	12	6682399	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9742	6682399	127169496	874	146156											
CHD4	1108	broad.mit.edu	37	chr12	6691863	6691863	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtggcataccatatcGcataattgcattaagaaagg	10	7	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6691863G>A	uc001qpo.2	-	29	4452	c.4288C>T	c.(4288-4290)CGA>TGA	p.R1430*	CHD4_uc001qpn.2_Nonsense_Mutation_p.R1423*|CHD4_uc001qpp.2_Nonsense_Mutation_p.R1455*|uc001qpq.1_Silent_p.S22S|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1430					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						ATACCATATCGCATAATTGCA	0.483													A	6691863	G	A	6691863	4	1	283	1	0	0	0	0	0	1	0	0	3327	1095	38	1	1498	1	CHD4	12	6691863	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9464	6691863	127160032	875	146157											
CD4	920	broad.mit.edu	37	chr12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-													ccaaggggtaaaaacatacaGggggggaagaccctctccgt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562													-	6924043	G	-	6924043	7	5	283	1	0	1	0	1	0	0	0	0	3014	991	35	0	506	0	CD4	12	6924043	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	232180	6924043	126927852	876	146158											
ATN1	1822	broad.mit.edu	37	chr12	7045028	7045029	+	Frame_Shift_Ins	INS	-	-	C													atatcatgctcccatggagcINScccccacatctcgaatgttc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:7045027_7045028G>GC	uc001qrw.1	+	4	834_835	c.597_598G>GC	c.(595-600)gagcccfs	p.E199fs	ATN1_uc001qrx.1_Frame_Shift_Ins_p.E199fs|ATN1_uc001qry.1_Frame_Shift_Ins_p.E198fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	199					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						CTCCCATGGAGCCCCCCACATC	0.609													C	7045029	-	C	7045028	7	5	283	1	0	1	1	0	0	0	0	0	1111	739	26	0	612	0	ATN1	12	7045028	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	120985	7045028	126806867	877	146159											
CD163L1	283316	broad.mit.edu	37	chr12	7586129	7586129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccaaaacgaaacatggCgaaagaaaatggacatccaa	8	8	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:7586129C>T	uc001qsy.2	-	3	312	c.286G>A	c.(286-288)GCC>ACC	p.A96T	CD163L1_uc010sge.1_Missense_Mutation_p.A96T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	96	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CGAAACATGGCGAAAGAAAAT	0.463													T	7586129	C	T	7586129	3	4	283	1	0	0	0	0	1	0	0	0	2968	768	27	1	4143	1	CD163L1	12	7586129	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	541101	7586129	126265766	878	146160											
AICDA	57379	broad.mit.edu	37	chr12	8757859	8757859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcgcggtgcagccgccGcagcccctcgggctcagcct	14	20	1	0	rs141451637	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:8757859G>A	uc001qur.2	-	3	458	c.379C>T	c.(379-381)CGG>TGG	p.R127W	AICDA_uc001qup.1_Missense_Mutation_p.R122W|AICDA_uc001quq.1_Missense_Mutation_p.R122W|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	127					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung SC(5;0.184)					TGCAGCCGCCGCAGCCCCTCG	0.642									Immune_Deficiency_with_Hyper-IgM				A	8757859	G	A	8757859	3	1	283	1	0	0	0	0	1	0	0	0	422	1086	38	1	229	1	AICDA	12	8757859	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1171730	8757859	125094036	879	146161											
KLRK1	22914	broad.mit.edu	37	chr12	10532363	10532363	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggattcccatggctacagcGatgaagcagcagaaaaaaaa	10	9	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:10532363G>A	uc009zhj.2	-	4	341	c.177C>T	c.(175-177)ATC>ATT	p.I59I	uc001qya.1_RNA|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Silent_p.I59I|KLRK1_uc009zhk.2_Silent_p.I59I|KLRK1_uc001qyd.2_Silent_p.I59I	NM_007360	NP_031386	P26718	NKG2D_HUMAN	NKG2-D type II integral membrane protein	59	Helical; Signal-anchor for type II membrane protein; (Potential).				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding				0						TGGCTACAGCGATGAAGCAGC	0.353													A	10532363	G	A	10532363	2	1	283	1	0	0	0	0	0	0	0	1	8423	1048	37	1		1	KLRK1	12	10532363	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1774504	10532363	123319532	880	146162											
PRB3	5544	broad.mit.edu	37	chr12	11420683	11420683	+	Frame_Shift_Del	DEL	G	G	-													gggactggtttcctccttgtGggggtggtccttctggcttt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:11420682_11420682TG>T	uc001qzs.3	-	2	539	c.501_501CA>A	c.(499-501)ccafs	p.P167fs	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	167	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			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)			TTCCTCCTTGTGGGGGTGGTC	0.652													-	11420683	G	-	11420683	7	5	283	1	0	1	0	1	0	0	0	0	12444	1348	47	0	437	0	PRB3	12	11420683	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	888320	11420683	122431212	881	146163											
PTPRO	5800	broad.mit.edu	37	chr12	15654773	15654773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcagtgactatgaaactaCgtctcagccatattggtggg	11	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:15654773C>T	uc001rcv.1	+	5	1055	c.881C>T	c.(880-882)ACG>ATG	p.T294M	PTPRO_uc001rcw.1_Missense_Mutation_p.T294M|PTPRO_uc001rcu.1_Missense_Mutation_p.T294M	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	294	Fibronectin type-III 3.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TATGAAACTACGTCTCAGCCA	0.423													T	15654773	C	T	15654773	3	4	283	1	0	0	0	0	1	0	0	0	12809	536	19	1	899	1	PTPRO	12	15654773	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4234090	15654773	118197122	882	146164											
STRAP	11171	broad.mit.edu	37	chr12	16042873	16042873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttttagcaaagtgtgggAtgctgtctcaggagatgaat	12	5	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:16042873A>G	uc001rdc.3	+	3	614	c.260A>G	c.(259-261)GAT>GGT	p.D87G	STRAP_uc010shw.1_Missense_Mutation_p.D100G|STRAP_uc001rdd.3_5'UTR	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	87	WD 2.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)				AAAGTGTGGGATGCTGTCTCA	0.323													G	16042873	A	G	16042873	3	3	283	1	0	0	0	0	1	0	0	0	15325	333	12	3	270	3	STRAP	12	16042873	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	388100	16042873	117809022	883	146165											
PLEKHA5	54477	broad.mit.edu	37	chr12	19522710	19522711	+	Frame_Shift_Del	DEL	AT	AT	-													tcacagaaggatcacatttcAtgtgtgtgtagtcttagaag					rs140734813		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:19522709_19522710CAT>C	uc001reb.3	+	24	3447_3448	c.3339_3340CAT>C	c.(3337-3342)ttcatgfs	p.F1113fs	PLEKHA5_uc001rea.3_Frame_Shift_Del_p.F1171fs|PLEKHA5_uc009zin.3_Frame_Shift_Del_p.F871fs|PLEKHA5_uc010sig.2_Frame_Shift_Del_p.F1095fs|PLEKHA5_uc021qvy.1_Frame_Shift_Del_p.F1102fs|PLEKHA5_uc009zio.3_Frame_Shift_Del_p.F379fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	1113							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)					GATCACATTTCATGTGTGTGTA	0.406													-	19522711	AT	-	19522710	7	5	283	1	0	1	0	1	0	0	0	0	12059	217	8	0	3756	0	PLEKHA5	12	19522710	Frame_Shift_Del	DEL	AT	TCGA-HU-A4H8-01A-11D-A25D-08	3479837	19522710	114329185	884	146166											
CMAS	55907	broad.mit.edu	37	chr12	22218104	22218104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagagtgggcctaagtggCgctcctgctgatgcctgttc	14	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:22218104C>T	uc001rfm.2	+	8	1243	c.1164C>T	c.(1162-1164)GGC>GGT	p.G388G	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	388					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						GCCTAAGTGGCGCTCCTGCTG	0.428													T	22218104	C	T	22218104	2	4	283	1	0	0	0	0	0	0	0	1	3575	755	27	1		1	CMAS	12	22218104	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2695394	22218104	111633791	885	146167											
ITPR2	3709	broad.mit.edu	37	chr12	26568380	26568380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcggccatttcgtgtgaCactttttatgacattcagca	9	9	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:26568380C>T	uc001rhg.2	-	51	7579	c.7162G>A	c.(7162-7164)GTC>ATC	p.V2388I	ITPR2_uc009zjg.1_Missense_Mutation_p.V539I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2388	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TTTCGTGTGACACTTTTTATG	0.383													T	26568380	C	T	26568380	3	4	283	1	0	0	0	0	1	0	0	0	7921	478	17	4	971	4	ITPR2	12	26568380	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4350276	26568380	107283515	886	146168											
TMTC1	83857	broad.mit.edu	37	chr12	29689236	29689236	+	Frame_Shift_Del	DEL	T	T	-													gtaaggtgatagcttcttccTttttctcctgggacctatag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:29689235_29689235CT>C	uc021qwi.1	-	10	1751	c.1692_1692AG>G	c.(1690-1692)aagfs	p.K564fs	TMTC1_uc001riz.3_Frame_Shift_Del_p.K213fs|TMTC1_uc001rja.3_Frame_Shift_Del_p.K300fs|TMTC1_uc001rjb.3_Frame_Shift_Del_p.K456fs|TMTC1_uc001rjc.1_Frame_Shift_Del_p.K518fs	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	564						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)					TAGCTTCTTCCTTTTTCTCCT	0.383													-	29689236	T	-	29689236	7	5	283	1	0	1	0	1	0	0	0	0	16257	1609	56	0	989	0	TMTC1	12	29689236	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	3120856	29689236	104162659	887	146169											
CAPRIN2	65981	broad.mit.edu	37	chr12	30863196	30863196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctaaagttccaggggcCagattagaggttctggctgc	14	8	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:30863196C>T	uc001rji.1	-	18	3775	c.3024G>A	c.(3022-3024)CTG>CTA	p.L1008L	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Silent_p.L675L|CAPRIN2_uc001rjh.1_Silent_p.L958L|CAPRIN2_uc001rjj.1_Silent_p.L674L|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	1008	C1q.				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			ovary(1)|central_nervous_system(1)	2	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)					TTCCAGGGGCCAGATTAGAGG	0.473													T	30863196	C	T	30863196	2	4	283	1	0	0	0	0	0	0	0	1	2636	581	21	4		4	CAPRIN2	12	30863196	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1173960	30863196	102988699	888	146170											
ARID2	196528	broad.mit.edu	37	chr12	46230646	46230648	+	In_Frame_Del	DEL	GAG	GAG	-													ttttgagaaatctttcctttGaggagggcaatgttaagctc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:46230646_46230648delGAG	uc001ros.1	+	8	895_897	c.895_897delGAG	c.(895-897)GAGdel	p.E300del	ARID2_uc001ror.2_In_Frame_Del_p.E300del|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	300					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		TCTTTCCTTTGAGGAGGGCAATG	0.409													-	46230648	GAG	-	46230646	7	5	283	1	0	1	0	1	0	0	0	0	915	1291	45	0	925	0	ARID2	12	46230646	In_Frame_Del	DEL	GAG	TCGA-HU-A4H8-01A-11D-A25D-08	15367450	46230646	87621249	889	146171											
SLC38A2	54407	broad.mit.edu	37	chr12	46758904	46758904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctaaatttctaaacAgcgacaaaggaagaatgacc	7	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:46758904A>G	uc001rpg.2	-	8	1072	c.632T>C	c.(631-633)CTG>CCG	p.L211P	SLC38A2_uc010sli.1_Missense_Mutation_p.L49P|SLC38A2_uc001rph.2_Missense_Mutation_p.L111P	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	211	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	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)		ATTTCTAAACAGCGACAAAGG	0.378													G	46758904	A	G	46758904	3	3	283	1	0	0	0	0	1	0	0	0	14604	188	7	3	924	3	SLC38A2	12	46758904	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	528258	46758904	87092991	890	146172											
MLL2	8085	broad.mit.edu	37	chr12	49420302	49420303	+	Frame_Shift_Del	DEL	AA	AA	-													tagacccgccggaagacagcAaaagagctcagctcttgctc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:49420302_49420303delAA	uc001rta.3	-	48	15446_15447	c.15446_15447delTT	c.(15445-15447)TTTfs	p.F5149fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5149					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGAAGACAGCAAAAGAGCTCAG	0.559			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			-	49420303	AA	-	49420302	7	5	283	1	0	1	0	1	0	0	0	0	9621	127	5	0	1194	0	MLL2	12	49420302	Frame_Shift_Del	DEL	AA	TCGA-HU-A4H8-01A-11D-A25D-08	2661398	49420302	84431593	891	146173											
DHH	50846	broad.mit.edu	37	chr12	49485071	49485071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtggagtgaatcctgagcGtggtggccgtcctcgtccca	14	11	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:49485071G>A	uc001rtf.2	-	2	712	c.405C>T	c.(403-405)CAC>CAT	p.H135H		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	135					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						AATCCTGAGCGTGGTGGCCGT	0.607													A	49485071	G	A	49485071	2	1	283	1	0	0	0	0	0	0	0	1	4483	1136	40	1		1	DHH	12	49485071	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	64769	49485071	84366824	892	146174											
C1QL4	338761	broad.mit.edu	37	chr12	49729949	49729949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgcgaggcacgtagccGgcagcgggcgccaccccgcc	15	17	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:49729949G>A	uc001rtz.1	-	1	1023	c.312C>T	c.(310-312)GCC>GCT	p.A104A		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	104						collagen					0						GCACGTAGCCGGCAGCGGGCG	0.736													A	49729949	G	A	49729949	2	1	283	1	0	0	0	0	0	0	0	1	1961	1103	39	1		1	C1QL4	12	49729949	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	244878	49729949	84121946	893	146175											
DIP2B	57609	broad.mit.edu	37	chr12	51117073	51117073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatgctcagaacctcacGgccacgctgcccactgtccg	8	19	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:51117073G>A	uc001rwv.2	+	27	3411	c.3255G>A	c.(3253-3255)ACG>ACA	p.T1085T	DIP2B_uc009zlt.2_Silent_p.T515T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1085						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						AGAACCTCACGGCCACGCTGC	0.502													A	51117073	G	A	51117073	2	1	283	1	0	0	0	0	0	0	0	1	4528	1103	39	1		1	DIP2B	12	51117073	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1387124	51117073	82734822	894	146176											
GALNT6	11226	broad.mit.edu	37	chr12	51751183	51751183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgatgaggggcttcccccCgcggttgttctcacccacat	10	15	1	2	rs142431103		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:51751183C>T	uc001ryk.2	-	9	1777	c.1552G>A	c.(1552-1554)GGG>AGG	p.G518R	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.G518R|GALNT6_uc001ryj.1_Missense_Mutation_p.G83R	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	518	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GGCTTCCCCCCGCGGTTGTTC	0.612													T	51751183	C	T	51751183	3	4	283	1	0	0	0	0	1	0	0	0	6217	652	23	1	328	1	GALNT6	12	51751183	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	634110	51751183	82100712	895	146177											
FIGNL2	401720	broad.mit.edu	37	chr12	52215861	52215861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggttcctgggaggccttCgtggagtgaggccaaggggt	18	7	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:52215861C>T	uc001rzc.2	-	1	348	c.337G>A	c.(337-339)GAA>AAA	p.E113K		NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN	fidgetin-like 2	113							ATP binding|nucleoside-triphosphatase activity				0				BRCA - Breast invasive adenocarcinoma(357;0.135)		GGGAGGCCTTCGTGGAGTGAG	0.706													T	52215861	C	T	52215861	3	4	283	1	0	0	0	0	1	0	0	0	5893	893	31	1	1628	1	FIGNL2	12	52215861	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	464678	52215861	81636034	896	146178											
KRT6A	3853	broad.mit.edu	37	chr12	52884727	52884727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccttgttcatgtaggcaGcatccacatcctggggaaag	10	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:52884727G>A	uc001sam.2	-	4	1036	c.827C>T	c.(826-828)GCT>GTT	p.A276V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	276	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		CATGTAGGCAGCATCCACATC	0.502													A	52884727	G	A	52884727	3	1	283	1	0	0	0	0	1	0	0	0	8480	971	34	2	891	2	KRT6A	12	52884727	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	668866	52884727	80967168	897	146179											
KIAA0748	9840	broad.mit.edu	37	chr12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcttaaagaccgacGcagttctggtctgtctacac	10	12	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:55356262G>A	uc001sgn.3	-	9	1530	c.1420C>T	c.(1420-1422)CGT>TGT	p.R474C	KIAA0748_uc001sgl.3_Missense_Mutation_p.R336C|KIAA0748_uc001sgm.3_Missense_Mutation_p.R221C|KIAA0748_uc010spb.1_Missense_Mutation_p.R221C|KIAA0748_uc010spc.1_Missense_Mutation_p.R336C|KIAA0748_uc010spd.1_Missense_Mutation_p.R474C|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	474										ovary(1)|central_nervous_system(1)	2						AAAGACCGACGCAGTTCTGGT	0.517													A	55356262	G	A	55356262	3	1	283	1	0	0	0	0	1	0	0	0	8190	1087	38	1	153	1	KIAA0748	12	55356262	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2471535	55356262	78495633	898	146180											
ITGA7	3679	broad.mit.edu	37	chr12	56091499	56091499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagagcactgcggtgtcAgccagggagcccaccagcag	14	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56091499A>G	uc001shh.2	-	9	1621	c.1401T>C	c.(1399-1401)GCT>GCC	p.A467A	ITGA7_uc001shg.2_Silent_p.A463A|ITGA7_uc010sps.1_Silent_p.A370A|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Silent_p.A350A	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	507	FG-GAP 7.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CTGCGGTGTCAGCCAGGGAGC	0.612													G	56091499	A	G	56091499	2	3	283	1	0	0	0	0	0	0	0	1	7881	175	7	3		3	ITGA7	12	56091499	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	735237	56091499	77760396	899	146181											
DGKA	1606	broad.mit.edu	37	chr12	56346914	56346914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaagaatgctggacgtcGgctggccaagtgctctgaga	14	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56346914G>A	uc001sij.2	+	22	2297	c.2033G>A	c.(2032-2034)CGG>CAG	p.R678Q	DGKA_uc001sik.2_Missense_Mutation_p.R678Q|DGKA_uc001sil.2_Missense_Mutation_p.R678Q|DGKA_uc001sim.2_Missense_Mutation_p.R678Q|DGKA_uc001sin.2_Missense_Mutation_p.R678Q|DGKA_uc009zof.2_Missense_Mutation_p.R324Q|DGKA_uc001sio.2_Missense_Mutation_p.R420Q	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	678					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			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GCTGGACGTCGGCTGGCCAAG	0.562													A	56346914	G	A	56346914	3	1	283	1	0	0	0	0	1	0	0	0	4465	1116	39	1	2115	1	DGKA	12	56346914	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	255415	56346914	77504981	900	146182											
ERBB3	2065	broad.mit.edu	37	chr12	56482607	56482607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggatttgtgaactgcaCcaagatcctgggcaacctgg	12	9	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56482607C>T	uc001sjh.2	+	9	1257	c.1064C>T	c.(1063-1065)ACC>ATC	p.T355I	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.T296I|ERBB3_uc001sji.2_Missense_Mutation_p.T46I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	355	Extracellular (Potential).				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			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTGAACTGCACCAAGATCCTG	0.552													T	56482607	C	T	56482607	3	4	283	1	0	0	0	0	1	0	0	0	5208	507	18	4	1229	4	ERBB3	12	56482607	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	135693	56482607	77369288	901	146183											
OBFC2B	79035	broad.mit.edu	37	chr12	56619283	56619283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctggggacattatccGgctcaccaaagggtaagtca	11	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56619283G>A	uc001ski.2	+	3	330	c.206G>A	c.(205-207)CGG>CAG	p.R69Q	OBFC2B_uc001skk.2_Missense_Mutation_p.R94Q|OBFC2B_uc001skj.2_Missense_Mutation_p.R85Q	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	69	OB.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						GACATTATCCGGCTCACCAAA	0.498								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					A	56619283	G	A	56619283	3	1	283	1	0	0	0	0	1	0	0	0	10809	1116	39	1	212	1	OBFC2B	12	56619283	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	136676	56619283	77232612	902	146184											
IL23A	51561	broad.mit.edu	37	chr12	56733791	56733791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagccagccatggcagcGtctccttctccgcttcaaaa	7	17	3	0	rs146998334		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:56733791G>A	uc001sla.2	+	4	639	c.473G>A	c.(472-474)CGT>CAT	p.R158H		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19 precursor	158					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity				0						CCATGGCAGCGTCTCCTTCTC	0.577													A	56733791	G	A	56733791	3	1	283	1	0	0	0	0	1	0	0	0	7675	1145	40	1	487	1	IL23A	12	56733791	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	114508	56733791	77118104	903	146185											
GPR182	11318	broad.mit.edu	37	chr12	57389178	57389178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctttgccctctacctggCcatgtttgtggttgggctgg	12	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57389178C>T	uc001smk.2	+	2	279	c.185C>T	c.(184-186)GCC>GTC	p.A62V	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	62	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CTCTACCTGGCCATGTTTGTG	0.587													T	57389178	C	T	57389178	3	4	283	1	0	0	0	0	1	0	0	0	6677	739	26	2	187	2	GPR182	12	57389178	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	655387	57389178	76462717	904	146186											
KIF5A	3798	broad.mit.edu	37	chr12	57963431	57963431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagaaggagacgattgCgaagctggaggctgagctga	17	8	0	4	rs121434444		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57963431C>T	uc001sor.1	+	11	1290	c.1082C>T	c.(1081-1083)GCG>GTG	p.A361V	KIF5A_uc010srr.1_Missense_Mutation_p.A272V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	361			A -> V (in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						gagaCGATTGCGAAGCTGGAG	0.418													T	57963431	C	T	57963431	3	4	283	1	0	0	0	0	1	0	0	0	8305	768	27	1	1124	1	KIF5A	12	57963431	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	574253	57963431	75888464	905	146187											
KIF5A	3798	broad.mit.edu	37	chr12	57965968	57965968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggaggagctggctgTgaactatgaccagaagtccc	14	11	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57965968T>C	uc001sor.1	+	14	1695	c.1487T>C	c.(1486-1488)GTG>GCG	p.V496A	KIF5A_uc010srr.1_Missense_Mutation_p.V407A	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	496					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						GAGCTGGCTGTGAACTATGAC	0.567													C	57965968	T	C	57965968	3	2	283	1	0	0	0	0	1	0	0	0	8305	1696	59	3	1541	3	KIF5A	12	57965968	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	2537	57965968	75885927	906	146188											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994645	57994645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccttctgctaggcatccacGacatcattcggggctctgaa	10	13	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:57994645G>A	uc001sou.2	+	8	996	c.865G>A	c.(865-867)GAC>AAC	p.D289N	PIP4K2C_uc001sot.2_Missense_Mutation_p.D289N|PIP4K2C_uc010srs.1_Missense_Mutation_p.D271N|PIP4K2C_uc010srt.1_Missense_Mutation_p.D241N	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	289	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					AGGCATCCACGACATCATTCG	0.552													A	57994645	G	A	57994645	3	1	283	1	0	0	0	0	1	0	0	0	11938	1058	37	1	895	1	PIP4K2C	12	57994645	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	28677	57994645	75857250	907	146189											
GEFT	115557	broad.mit.edu	37	chr12	58007272	58007274	+	In_Frame_Del	DEL	AGA	AGA	-													ccctgagagtgaggaggaacAgaagaagaaggctctggaaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:58007272_58007274delAGA	uc001spb.2	+	4	918_920	c.458_460delAGA	c.(457-462)CAGAAG>CAG	p.K156del	GEFT_uc009zpy.2_In_Frame_Del_p.K195del|GEFT_uc001soz.1_In_Frame_Del_p.K30del|GEFT_uc001spa.2_In_Frame_Del_p.K50del|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	156					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					GAGGAGGAACAGAAGAAGAAGGC	0.498													-	58007274	AGA	-	58007272	7	5	283	1	0	1	0	1	0	0	0	0	6328	188	7	0	694	0	GEFT	12	58007272	In_Frame_Del	DEL	AGA	TCGA-HU-A4H8-01A-11D-A25D-08	12627	58007272	75844623	908	146190											
LRIG3	121227	broad.mit.edu	37	chr12	59267868	59267868	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttactcgaggcaaccgacgcTggctctggatttgcactaaa	10	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:59267868T>A	uc001sqr.2	-	18	3330	c.3084A>T	c.(3082-3084)CCA>CCT	p.P1028P	LRIG3_uc009zqh.2_Silent_p.P968P|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	1028						integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			CAACCGACGCTGGCTCTGGAT	0.413													A	59267868	T	A	59267868	2	1	283	1	0	0	0	0	0	0	0	1	8946	1567	55	5		5	LRIG3	12	59267868	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1260596	59267868	74584027	909	146191											
DYRK2	8445	broad.mit.edu	37	chr12	68051469	68051469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgagaagcgcttccaccGgcaagcagcggaggagatcc	14	11	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:68051469G>A	uc001str.3	+	3	1184	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	DYRK2_uc001sts.3_Missense_Mutation_p.R188Q	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	261	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			ovary(2)|breast(1)|central_nervous_system(1)	4			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)		CGCTTCCACCGGCAAGCAGCG	0.542													A	68051469	G	A	68051469	3	1	283	1	0	0	0	0	1	0	0	0	4856	1116	39	1	792	1	DYRK2	12	68051469	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8783601	68051469	65800426	910	146192											
PTPRB	5787	broad.mit.edu	37	chr12	70989964	70989964	+	Frame_Shift_Del	DEL	C	C	-													agtactttcttgaatttgaaCcccctgtatcttttggttat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:70989963_70989963AC>A	uc001swb.4	-	2	500	c.470_470GT>T	c.(469-471)gttfs	p.V157fs	PTPRB_uc010sto.2_Frame_Shift_Del_p.V157fs|PTPRB_uc010stp.2_Frame_Shift_Del_p.V157fs|PTPRB_uc001swc.4_Frame_Shift_Del_p.V375fs|PTPRB_uc001swa.4_Frame_Shift_Del_p.V375fs|PTPRB_uc001swd.4_Frame_Shift_Del_p.V374fs|PTPRB_uc009zrr.2_Frame_Shift_Del_p.V254fs|PTPRB_uc001swe.3_Frame_Shift_Del_p.V375fs	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	157	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)			TTGAATTTGAACCCCCTGTAT	0.378													-	70989964	C	-	70989964	7	5	283	1	0	1	0	1	0	0	0	0	12796	507	18	0	5644	0	PTPRB	12	70989964	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	2938495	70989964	62861931	911	146193											
LGR5	8549	broad.mit.edu	37	chr12	71977724	71977724	+	Frame_Shift_Del	DEL	T	T	-													tgtcattggttttttgtccaTttttgcttcagaatcatctg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:71977723_71977723AT>A	uc001swl.3	+	17	1981	c.1933_1933AT>A	c.(1933-1935)attfs	p.I645fs	LGR5_uc001swm.3_Frame_Shift_Del_p.I621fs|LGR5_uc021rar.1_Frame_Shift_Del_p.I573fs|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	645						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						TTTTTTGTCCATTTTTGCTTC	0.478													-	71977724	T	-	71977724	7	5	283	1	0	1	0	1	0	0	0	0	8757	1493	52	0	2004	0	LGR5	12	71977724	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	987760	71977724	61874171	912	146194											
KCNC2	3747	broad.mit.edu	37	chr12	75601598	75601598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacagtggaggcggcgacgGctgcagcttgtcgcccgccg	17	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:75601598G>A	uc001sxg.1	-	2	710	c.166C>T	c.(166-168)CCG>TCG	p.P56S	KCNC2_uc009zry.2_Missense_Mutation_p.P56S|KCNC2_uc001sxe.2_Missense_Mutation_p.P56S|KCNC2_uc001sxf.2_Missense_Mutation_p.P56S|KCNC2_uc010stw.1_Missense_Mutation_p.P56S	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	56	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						ggcggcgacggctgcagcTTG	0.517													A	75601598	G	A	75601598	3	1	283	1	0	0	0	0	1	0	0	0	8015	1203	42	2	1832	2	KCNC2	12	75601598	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3623874	75601598	58250297	913	146195											
KRR1	11103	broad.mit.edu	37	chr12	75900336	75900336	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctttattccttactaaAgaacctattttaatgatgtc	3	9	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:75900336A>C	uc001sxt.2	-	4	488	c.447T>G	c.(445-447)TCT>TCG	p.S149S	KRR1_uc009zsc.2_Silent_p.S149S|KRR1_uc010stx.1_Silent_p.S149S	NM_007043	NP_008974	Q13601	KRR1_HUMAN	HIV-1 rev binding protein 2	149					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			ovary(1)|pancreas(1)	2						TCCTTACTAAAGAACCTATTT	0.303													C	75900336	A	C	75900336	2	2	283	1	0	0	0	0	0	0	0	1	8446	59	3	5		5	KRR1	12	75900336	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	298738	75900336	57951559	914	146196											
PLXNC1	10154	broad.mit.edu	37	chr12	94543038	94543038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgctggcgccccccgcGcggccccggcccgggagcag	16	20	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:94543038G>A	uc001tdc.2	+	1	540	c.291G>A	c.(289-291)GCG>GCA	p.A97A		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	97	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						cgccccccgcgcggccccggc	0.602													A	94543038	G	A	94543038	2	1	283	1	0	0	0	0	0	0	0	1	12126	1074	38	1		1	PLXNC1	12	94543038	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	18642702	94543038	39308857	915	146197											
CCDC41	51134	broad.mit.edu	37	chr12	94725550	94725550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctctgtctgtgatacGctcatgaagcttatgctttt	7	9	4	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:94725550G>A	uc001tdd.2	-	14	2219	c.1633C>T	c.(1633-1635)CGT>TGT	p.R545C	CCDC41_uc001tde.2_Missense_Mutation_p.R545C|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	537	Potential.			R -> C (in Ref. 3; AAI25087).							0						TCTGTGATACGCTCATGAAGC	0.383													A	94725550	G	A	94725550	3	1	283	1	0	0	0	0	1	0	0	0	2813	1087	38	1	488	1	CCDC41	12	94725550	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	182512	94725550	39126345	916	146198											
CCDC38	120935	broad.mit.edu	37	chr12	96300224	96300224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggacagtcctttttgtgtCggaacctgtgaagaaagttg	12	6	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:96300224C>T	uc001tek.1	-	5	544	c.310G>A	c.(310-312)GAC>AAC	p.D104N		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	104										skin(1)	1						CTTTTTGTGTCGGAACCTGTG	0.333													T	96300224	C	T	96300224	3	4	283	1	0	0	0	0	1	0	0	0	2810	884	31	1	1429	1	CCDC38	12	96300224	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1574674	96300224	37551671	917	146199											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100451840	100451840	+	Frame_Shift_Del	DEL	G	G	-													gtgatttaagtgttctaactGggggggtctcttctttactg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:100451839_100451839TG>T	uc001tgq.3	-	13	3445	c.3216_3216CA>A	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.P722fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1072										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						GTGTTCTAACTGGGGGGGTCT	0.368													-	100451840	G	-	100451840	7	5	283	1	0	1	0	1	0	0	0	0	16966	1348	47	0	1211	0	UHRF1BP1L	12	100451840	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	4151616	100451840	33400055	918	146200											
MYBPC1	4604	broad.mit.edu	37	chr12	102043102	102043102	+	Frame_Shift_Del	DEL	A	A	-													accgaattagagttgagggtAaaaaacacatcttgatcata							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:102043102delA	uc001tii.2	+	13	1288	c.1186delA	c.(1186-1188)AAAfs	p.K396fs	MYBPC1_uc001tif.1_Frame_Shift_Del_p.K409fs|MYBPC1_uc001tig.2_Frame_Shift_Del_p.K421fs|MYBPC1_uc010svq.1_Frame_Shift_Del_p.K383fs|MYBPC1_uc001tih.2_Frame_Shift_Del_p.K421fs|MYBPC1_uc001tij.2_Frame_Shift_Del_p.K396fs|MYBPC1_uc010svr.1_Frame_Shift_Del_p.K396fs|MYBPC1_uc010svs.1_Frame_Shift_Del_p.K396fs|MYBPC1_uc010svt.1_Frame_Shift_Del_p.K384fs|MYBPC1_uc010svu.1_Frame_Shift_Del_p.K377fs|MYBPC1_uc001tik.2_Frame_Shift_Del_p.K370fs	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	396	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						AGTTGAGGGTAAAAAACACAT	0.348													-	102043102	A	-	102043102	7	5	283	1	0	1	0	1	0	0	0	0	10011	363	13	0	1319	0	MYBPC1	12	102043102	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	1591262	102043102	31808793	919	146201											
KIAA1033	23325	broad.mit.edu	37	chr12	105535024	105535024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattagtgaacttagagaacGgtaagtaggactgggatatg	13	3	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:105535024G>A	uc001tld.2	+	18	1874	c.1787G>A	c.(1786-1788)CGA>CAA	p.R596Q	KIAA1033_uc010swr.1_Missense_Mutation_p.R597Q|KIAA1033_uc010sws.1_Missense_Mutation_p.R408Q	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	596					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						CTTAGAGAACGGTAAGTAGGA	0.338													A	105535024	G	A	105535024	3	1	283	1	0	0	0	0	1	0	0	0	8206	1130	39	1	1857	1	KIAA1033	12	105535024	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3491922	105535024	28316871	920	146202											
POLR3B	55703	broad.mit.edu	37	chr12	106824129	106824129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcttgtcatatatatccGcactgggcatgatgacaaga	9	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:106824129G>A	uc001tlp.2	+	14	1564	c.1342G>A	c.(1342-1344)GCA>ACA	p.A448T	POLR3B_uc001tlq.2_Missense_Mutation_p.A390T	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	448					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			ovary(1)|central_nervous_system(1)	2						ATATATATCCGCACTGGGCAT	0.468													A	106824129	G	A	106824129	3	1	283	1	0	0	0	0	1	0	0	0	12229	1087	38	1	1396	1	POLR3B	12	106824129	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1289105	106824129	27027766	921	146203											
USP30	84749	broad.mit.edu	37	chr12	109509471	109509471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggaagatgagcgagacCgccagcctcgggtcacacat	12	12	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:109509471C>T	uc010sxi.1	+	5	639	c.535C>T	c.(535-537)CGC>TGC	p.R179C	USP30_uc001tnu.3_Missense_Mutation_p.R148C	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	179	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						TGAGCGAGACCGCCAGCCTCG	0.438													T	109509471	C	T	109509471	3	4	283	1	0	0	0	0	1	0	0	0	17058	652	23	1	553	1	USP30	12	109509471	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2685342	109509471	24342424	922	146204											
ACACB	32	broad.mit.edu	37	chr12	109703279	109703279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccgcgctccaccatccGtgagaacatcacgtacctga	9	16	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:109703279G>A	uc001tob.2	+	52	7318	c.7199G>A	c.(7198-7200)CGT>CAT	p.R2400H	ACACB_uc001toc.2_Missense_Mutation_p.R2400H|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R1066H	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2400					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCCACCATCCGTGAGAACATC	0.637													A	109703279	G	A	109703279	3	1	283	1	0	0	0	0	1	0	0	0	107	1145	40	1	7401	1	ACACB	12	109703279	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	193808	109703279	24148616	923	146205											
GPN3	51184	broad.mit.edu	37	chr12	110902984	110902984	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggacagaccggttgagggcTtcacagtgctggaccatggt	15	9	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:110902984T>C	uc001tqr.2	-	2	140	c.84A>G	c.(82-84)GAA>GAG	p.E28E	GPN3_uc001tqs.2_Silent_p.E38E	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3 isoform 1	28						protein complex	GTP binding				0						GGTTGAGGGCTTCACAGTGCT	0.517													C	110902984	T	C	110902984	2	2	283	1	0	0	0	0	0	0	0	1	6619	1606	56	3		3	GPN3	12	110902984	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1199705	110902984	22948911	924	146206											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112323793	112323793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccctggctcaattccaccGaggccctggataatgtgctg	10	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:112323793G>A	uc001tta.2	+	10	1181	c.922G>A	c.(922-924)GAG>AAG	p.E308K	MAPKAPK5_uc001tsz.2_Missense_Mutation_p.E308K|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.E241K	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	308					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3						CAATTCCACCGAGGCCCTGGA	0.527													A	112323793	G	A	112323793	3	1	283	1	0	0	0	0	1	0	0	0	9291	1059	37	1	960	1	MAPKAPK5	12	112323793	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1420809	112323793	21528102	925	146207											
NAA25	80018	broad.mit.edu	37	chr12	112480910	112480910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctaaaccactggtatccaGctcataaatatcattgacaa	4	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:112480910G>A	uc001ttm.2	-	19	2376	c.2356C>T	c.(2356-2358)CTG>TTG	p.L786L	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.L758L|NAA25_uc009zwa.1_Silent_p.L786L	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	786						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CTGGTATCCAGCTCATAAATA	0.378													A	112480910	G	A	112480910	2	1	283	1	0	0	0	0	0	0	0	1	10121	962	34	2		2	NAA25	12	112480910	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	157117	112480910	21370985	926	146208											
OAS2	4939	broad.mit.edu	37	chr12	113435331	113435331	+	Frame_Shift_Del	DEL	A	A	-													tccttatcccacagtgccagAaaaaaatcaaggatttaccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:113435330_113435330GA>G	uc001tuj.3	+	3	773	c.633_633GA>G	c.(631-633)cagfs	p.Q211fs	OAS2_uc001tui.1_Frame_Shift_Del_p.Q211fs	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	211	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CACAGTGCCAGAAAAAAATCA	0.483													-	113435331	A	-	113435331	7	5	283	1	0	1	0	1	0	0	0	0	10800	247	9	0	719	0	OAS2	12	113435331	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	954421	113435331	20416564	927	146209											
RBM19	9904	broad.mit.edu	37	chr12	114358498	114358499	+	Splice_Site	DEL	GA	GA	-													ccatggaaaggagcactcctGagagagagaggtggaaatca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:114358497_114358498TGA>T	uc009zwi.2	-	19	2450	c.2306_splice	c.e19-1	p.G769_splice	RBM19_uc001tvn.4_Splice_Site_p.G769_splice|RBM19_uc001tvm.3_Splice_Site_p.G769_splice	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	769	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide 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)					GGAGCACTCCTGAGAGAGAGAG	0.545													-	114358499	GA	-	114358498	8	5	283	1	0	1	0	1	0	0	1	0	13121	1305	45	0		0	RBM19	12	114358498	Splice_Site	DEL	GA	TCGA-HU-A4H8-01A-11D-A25D-08	923167	114358498	19493397	928	146210											
NOS1	4842	broad.mit.edu	37	chr12	117660629	117660629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgatctatcttggattgcCggcacccgaagaccaggacc	10	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:117660629C>T	uc001twm.1	-	26	4552	c.3866G>A	c.(3865-3867)CGG>CAG	p.R1289Q		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1289					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			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTGGATTGCCGGCACCCGAA	0.577													T	117660629	C	T	117660629	3	4	283	1	0	0	0	0	1	0	0	0	10541	652	23	1	454	1	NOS1	12	117660629	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3302131	117660629	16191266	929	146211											
NOS1	4842	broad.mit.edu	37	chr12	117672531	117672531	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgcagctcctggctcccgTtggtgtggagacgcacgaag	14	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:117672531T>A	uc001twm.1	-	21	3760	c.3074A>T	c.(3073-3075)AAC>ATC	p.N1025I		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1025	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGGCTCCCGTTGGTGTGGAG	0.572													A	117672531	T	A	117672531	3	1	283	1	0	0	0	0	1	0	0	0	10541	1725	60	5	1266	5	NOS1	12	117672531	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	11902	117672531	16179364	930	146212											
HSPB8	26353	broad.mit.edu	37	chr12	119617264	119617264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttgacagcctcttggccCgactgggctctgcctcgtct	11	15	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:119617264C>T	uc001txb.2	+	1	670	c.147C>T	c.(145-147)CCC>CCT	p.P49P	HSPB8_uc001txc.2_Silent_p.P49P	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	49					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTTGGCCCGACTGGGCTC	0.682													T	119617264	C	T	119617264	2	4	283	1	0	0	0	0	0	0	0	1	7423	639	23	1		1	HSPB8	12	119617264	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1944733	119617264	14234631	931	146213											
CCDC60	160777	broad.mit.edu	37	chr12	119966530	119966530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtagtaaaaggagatgCagaagaaattgcagaccact	10	6	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:119966530C>T	uc001txe.2	+	12	1805	c.1340C>T	c.(1339-1341)GCA>GTA	p.A447V	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	447										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAAGGAGATGCAGAAGAAATT	0.388													T	119966530	C	T	119966530	3	4	283	1	0	0	0	0	1	0	0	0	2831	710	25	2	1386	2	CCDC60	12	119966530	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	349266	119966530	13885365	932	146214											
HNF1A	6927	broad.mit.edu	37	chr12	121434123	121434123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtaccctcaagcagcggCggtcccttagtgacagtgtc	12	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:121434123C>T	uc001tzg.2	+	5	1037	c.1014C>T	c.(1012-1014)GGC>GGT	p.G338G	HNF1A_uc001tze.1_Silent_p.G338G|HNF1A_uc001tzf.2_Silent_p.G338G|HNF1A_uc010szn.1_Silent_p.G338G	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	338					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			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic_Adenoma_Familial_Clustering_of				T	121434123	C	T	121434123	2	4	283	1	0	0	0	0	0	0	0	1	7251	755	27	1		1	HNF1A	12	121434123	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1467593	121434123	12417772	933	146215											
KNTC1	9735	broad.mit.edu	37	chr12	123099621	123099621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcttgcaaaagcttctGggcttcaatatggtaagtaa	10	7	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:123099621G>A	uc001ucv.2	+	56	6124	c.5961G>A	c.(5959-5961)CTG>CTA	p.L1987L	KNTC1_uc010taf.1_Silent_p.L912L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1987					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			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	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)		AAAAGCTTCTGGGCTTCAATA	0.393													A	123099621	G	A	123099621	2	1	283	1	0	0	0	0	0	0	0	1	8428	1335	47	4		4	KNTC1	12	123099621	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1665498	123099621	10752274	934	146216											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687615	123687615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcttcatgtgtaacgtaGgatctagagtcaggacctgg	13	7	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:123687615G>T	uc001uel.2	-	6	988	c.881C>A	c.(880-882)CCT>CAT	p.P294H	MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	294					M phase of mitotic cell cycle	centriole|Golgi membrane					0	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)		GTGTAACGTAGGATCTAGAGT	0.468													T	123687615	G	T	123687615	3	4	283	1	0	0	0	0	1	0	0	0	9728	1000	35	5	2274	5	MPHOSPH9	12	123687615	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	587994	123687615	10164280	935	146217											
NCOR2	9612	broad.mit.edu	37	chr12	124856837	124856837	+	Frame_Shift_Del	DEL	G	G	-													actgccagctcctcagccgcGgggggcttctgctcctcccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:124856837delG	uc010tba.1	-	20	2655	c.2538delC	c.(2536-2538)CCCfs	p.P846fs	NCOR2_uc010tay.1_Frame_Shift_Del_p.P846fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.P829fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.P846fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.P828fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.P846fs	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	846					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			skin(3)|ovary(1)	4	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)		CCTCAGCCGCGGGGGGCTTCT	0.697													-	124856837	G	-	124856837	7	5	283	1	0	1	0	1	0	0	0	0	10236	1103	39	0	5142	0	NCOR2	12	124856837	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1169222	124856837	8995058	936	146218											
TMEM132D	121256	broad.mit.edu	37	chr12	129559375	129559375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacagctaacacactcttcCgcttggatttctggcaggat	8	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:129559375C>T	uc009zyl.1	-	9	2673	c.2345G>A	c.(2344-2346)CGG>CAG	p.R782Q	TMEM132D_uc001uia.2_Missense_Mutation_p.R320Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	782	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	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)		CACACTCTTCCGCTTGGATTT	0.488													T	129559375	C	T	129559375	3	4	283	1	0	0	0	0	1	0	0	0	16044	652	23	1	958	1	TMEM132D	12	129559375	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4702538	129559375	4292520	937	146219											
TMEM132D	121256	broad.mit.edu	37	chr12	130184705	130184706	+	Frame_Shift_Ins	INS	-	-	G													tcctcccggcaaccaccgtgINSggggggctgaaccagctgga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:130184704_130184705T>TG	uc009zyl.1	-	1	946_947	c.618_619A>CA	c.(616-621)cccacgfs	p.P206fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	206						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)		GCAACCACCGTGGGGGGGCTGA	0.708													G	130184706	-	G	130184705	7	5	283	1	0	1	1	0	0	0	0	0	16044	1335	47	0	2713	0	TMEM132D	12	130184705	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	625330	130184705	3667190	938	146220											
STX2	2054	broad.mit.edu	37	chr12	131283100	131283100	+	Frame_Shift_Del	DEL	T	T	-													ttgctctgatatttgatagcTttttttgtttcttctttagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:131283099_131283099CT>C	uc001uio.3	-	8	924	c.757_757AG>G	c.(757-759)gctfs	p.A253fs	STX2_uc001uip.3_Frame_Shift_Del_p.A253fs|STX2_uc010tbj.2_Frame_Shift_Del_p.A253fs	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	253	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	SNAP receptor activity|calcium-dependent protein binding			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)		TATTTGATAGCTTTTTTTGTT	0.338													-	131283100	T	-	131283100	7	5	283	1	0	1	0	1	0	0	0	0	15344	1606	56	0	200	0	STX2	12	131283100	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	1098395	131283100	2568795	939	146221											
GPR133	283383	broad.mit.edu	37	chr12	131487823	131487823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcacgccccaggtcaccGtggagggctcctctgccatg	13	16	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:131487823G>T	uc001uit.3	+	10	1679	c.1120G>T	c.(1120-1122)GTG>TTG	p.V374L	GPR133_uc010tbm.1_Missense_Mutation_p.V406L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	374	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	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)		CCAGGTCACCGTGGAGGGCTC	0.612													T	131487823	G	T	131487823	3	4	283	1	0	0	0	0	1	0	0	0	6643	1145	40	5	1158	5	GPR133	12	131487823	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	204723	131487823	2364072	940	146222											
SFRS8	6433	broad.mit.edu	37	chr12	132199409	132199409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcactagcagaggatgGgagctacaatgccgtggggt	16	7	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:132199409G>T	uc001uja.1	+	3	571	c.431G>T	c.(430-432)GGG>GTG	p.G144V	SFRS8_uc010tbn.1_Missense_Mutation_p.G144V|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_Missense_Mutation_p.G18V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	144					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		GCAGAGGATGGGAGCTACAAT	0.443													T	132199409	G	T	132199409	3	4	283	1	0	0	0	0	1	0	0	0	14183	1232	43	5	441	5	SFRS8	12	132199409	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	711586	132199409	1652486	941	146223											
POLE	5426	broad.mit.edu	37	chr12	133241895	133241895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcccacctaccccttgcGcatgacatagccatagaagg	10	15	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:133241895G>A	uc001uks.1	-	21	2505	c.2461C>T	c.(2461-2463)CGC>TGC	p.R821C	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R794C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	821					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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	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)		TACCCCTTGCGCATGACATAG	0.597								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					A	133241895	G	A	133241895	3	1	283	1	0	0	0	0	1	0	0	0	12196	1087	38	1	4515	1	POLE	12	133241895	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1042486	133241895	610000	942	146224											
GOLGA3	2802	broad.mit.edu	37	chr12	133360752	133360752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagatggccaggcctcacctCgtcctccagctccagcacct	8	19	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:133360752C>T	uc001ukz.1	-	16	3824	c.3265G>A	c.(3265-3267)GAG>AAG	p.E1089K	GOLGA3_uc001ula.1_Missense_Mutation_p.E1089K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E1089K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1089	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		GGCCTCACCTCGTCCTCCAGC	0.627													T	133360752	C	T	133360752	3	4	283	1	0	0	0	0	1	0	0	0	6554	893	31	1	1405	1	GOLGA3	12	133360752	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	118857	133360752	491143	943	146225											
CHFR	55743	broad.mit.edu	37	chr12	133428223	133428223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctgaggggcgacacgCgggtcctgctcgcgctccgc	15	16	0	1	rs142511371		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr12:133428223C>T	uc001ulf.2	-	12	1593	c.1509G>A	c.(1507-1509)CCG>CCA	p.P503P	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.P491P|CHFR_uc010tbs.1_Silent_p.P502P|CHFR_uc001uld.2_Silent_p.P462P|CHFR_uc010tbt.1_Silent_p.P411P	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	503					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			skin(1)	1	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)		GGGCGACACGCGGGTCCTGCT	0.657													T	133428223	C	T	133428223	2	4	283	1	0	0	0	0	0	0	0	1	3337	755	27	1		1	CHFR	12	133428223	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	67471	133428223	423672	944	146226											
TUBA3C	7278	broad.mit.edu	37	chr13	19751183	19751183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtacaacatgcagcaggCcatgtacttgccgtggcgag	12	12	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:19751183C>T	uc009zzj.2	-	4	989	c.940G>A	c.(940-942)GCC>ACC	p.A314T		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	314					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		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)		ATGCAGCAGGCCATGTACTTG	0.577													T	19751183	C	T	19751183	3	4	283	1	0	0	0	0	1	0	0	0	16743	739	26	2	420	2	TUBA3C	13	19751183	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		19751183	95418695	945	146227											
SACS	26278	broad.mit.edu	37	chr13	23908236	23908238	+	In_Frame_Del	DEL	TCT	TCT	-													ttggttttgtttcttcctgaTcttctttcacacttacagat					rs148545339	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:23908236_23908238delTCT	uc001uon.2	-	10	10366_10368	c.9777_9779delAGA	c.(9775-9780)GAAGAT>GAT	p.E3259del	SACS_uc001uoo.2_In_Frame_Del_p.E3112del|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3259					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		TTCTTCCTGATCTTCTTTCACAC	0.369													-	23908238	TCT	-	23908236	7	5	283	1	0	1	0	1	0	0	0	0	13804	1435	50	0	3964	0	SACS	13	23908236	In_Frame_Del	DEL	TCT	TCGA-HU-A4H8-01A-11D-A25D-08	4157053	23908236	91261642	946	146228											
SPATA13	221178	broad.mit.edu	37	chr13	24876890	24876890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcacaccttcaacagGctcacccccttccggaaatg	7	16	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:24876890G>A	uc001upg.1	+	12	2345	c.1938G>A	c.(1936-1938)AGG>AGA	p.R646R	SPATA13_uc001upd.1_Silent_p.R1271R|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_Missense_Mutation_p.A594T|SPATA13_uc010tcz.1_Silent_p.R530R|SPATA13_uc010tda.1_Silent_p.R590R|SPATA13_uc001uph.2_Silent_p.R568R|SPATA13_uc010tdb.1_Silent_p.R506R|SPATA13_uc009zzz.1_Missense_Mutation_p.A204T	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	646	C-terminal tail.				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			skin(2)|ovary(1)	3		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)		CCTTCAACAGGCTCACCCCCT	0.552													A	24876890	G	A	24876890	2	1	283	1	0	0	0	0	0	0	0	1	14999	1194	42	2		2	SPATA13	13	24876890	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	968654	24876890	90292988	947	146229											
RNF6	6049	broad.mit.edu	37	chr13	26792713	26792713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccttgacgccatctaacCgctgttgcagttcttctgat	8	12	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:26792713C>T	uc001uqo.2	-	4	515	c.224G>A	c.(223-225)CGG>CAG	p.R75Q	RNF6_uc001uqn.1_Missense_Mutation_p.R75Q|RNF6_uc010aak.2_Missense_Mutation_p.R75Q|RNF6_uc001uqp.2_Missense_Mutation_p.R75Q|RNF6_uc001uqq.2_Missense_Mutation_p.R75Q|RNF6_uc010tdk.1_5'UTR	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	75					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			ovary(1)|skin(1)	2	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)		GCCATCTAACCGCTGTTGCAG	0.398													T	26792713	C	T	26792713	3	4	283	1	0	0	0	0	1	0	0	0	13498	652	23	1	1841	1	RNF6	13	26792713	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1915823	26792713	88377165	948	146230											
FLT3	2322	broad.mit.edu	37	chr13	28608309	28608309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactcattatctgaggagcCggtcacctgtaccatctgta	9	11	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:28608309C>T	uc001urw.2	-	14	1829	c.1747G>A	c.(1747-1749)GGC>AGC	p.G583S	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.G583S	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	583	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.T582_G583ins14(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	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)	TCTGAGGAGCCGGTCACCTGT	0.393			Mis|O		AML|ALL								T	28608309	C	T	28608309	3	4	283	1	0	0	0	0	1	0	0	0	5942	652	23	1	1278	1	FLT3	13	28608309	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1815596	28608309	86561569	949	146231											
FLT1	2321	broad.mit.edu	37	chr13	28895660	28895660	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaaggccaaaatcacaAatcttcaccacgttgttctc	7	13	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:28895660A>T	uc001usb.3	-	23	3399	c.3114T>A	c.(3112-3114)ATT>ATA	p.I1038I	FLT1_uc010aap.2_Silent_p.I43I|FLT1_uc010aaq.2_Silent_p.I163I|FLT1_uc001usa.3_Silent_p.I256I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1038	Cytoplasmic (Potential).|Protein kinase.				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	CAAAATCACAAATCTTCACCA	0.383													T	28895660	A	T	28895660	2	4	283	1	0	0	0	0	0	0	0	1	5941	10	1	5		5	FLT1	13	28895660	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	287351	28895660	86274218	950	146232											
FLT1	2321	broad.mit.edu	37	chr13	29001366	29001366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgagggataccatatgCggtacaagtcaggatttgtc	13	6	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:29001366C>T	uc001usb.3	-	10	1651	c.1366G>A	c.(1366-1368)GCA>ACA	p.A456T	FLT1_uc010aar.1_Missense_Mutation_p.A456T|FLT1_uc001usc.3_Missense_Mutation_p.A456T|FLT1_uc010tdp.1_Missense_Mutation_p.A456T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	456	Ig-like C2-type 5.|Extracellular (Potential).				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			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	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)	ATACCATATGCGGTACAAGTC	0.478													T	29001366	C	T	29001366	3	4	283	1	0	0	0	0	1	0	0	0	5941	768	27	1	2997	1	FLT1	13	29001366	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	105706	29001366	86168512	951	146233											
KL	9365	broad.mit.edu	37	chr13	33591206	33591206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacggcggctgggccaacCgcgccctggccgaccacttc	12	19	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:33591206C>T	uc001uus.2	+	1	636	c.628C>T	c.(628-630)CGC>TGC	p.R210C	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	210	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|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			large_intestine(1)|ovary(1)|skin(1)	3	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)		CTGGGCCAACCGCGCCCTGGC	0.682													T	33591206	C	T	33591206	3	4	283	1	0	0	0	0	1	0	0	0	8331	652	23	1	630	1	KL	13	33591206	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4589840	33591206	81578672	952	146234											
NBEA	26960	broad.mit.edu	37	chr13	36125104	36125104	+	Frame_Shift_Del	DEL	A	A	-													ttccctgatcaagcaacagtAaaaaaagttgtctatagctt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:36125104delA	uc001uvb.2	+	43	6947	c.6741delA	c.(6739-6741)GTAfs	p.V2247fs	NBEA_uc010abi.2_Frame_Shift_Del_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Del_p.V40fs|NBEA_uc010tef.1_Frame_Shift_Del_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Del_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		AAGCAACAGTAAAAAAAGTTG	0.378													-	36125104	A	-	36125104	7	5	283	1	0	1	0	1	0	0	0	0	10187	349	13	0	6911	0	NBEA	13	36125104	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	2533898	36125104	79044774	953	146235											
C13orf23	80209	broad.mit.edu	37	chr13	39587976	39587976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcagaaaaccttttaaCgcagacaaaagaggactgtt	9	7	1	3	rs61740032	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:39587976C>T	uc001uwy.2	-	11	2286	c.1413G>A	c.(1411-1413)GCG>GCA	p.A471A	C13orf23_uc001uwz.2_Silent_p.A449A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	471	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		AACCTTTTAACGCAGACAAAA	0.483													T	39587976	C	T	39587976	2	4	283	1	0	0	0	0	0	0	0	1	1721	523	19	1		1	C13orf23	13	39587976	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3462872	39587976	75581902	954	146236											
PCDH8	5100	broad.mit.edu	37	chr13	53420431	53420431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagccggcccacgcccgCcccctgctgttaccacgaag	11	20	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:53420431C>T	uc001vhi.2	-	1	2344	c.2141G>A	c.(2140-2142)GGC>GAC	p.G714D	PCDH8_uc001vhj.2_Missense_Mutation_p.G714D	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	714	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		CCCACGCCCGCCCCCTGCTGT	0.721													T	53420431	C	T	53420431	3	4	283	1	0	0	0	0	1	0	0	0	11517	739	26	2	1083	2	PCDH8	13	53420431	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	13832455	53420431	61749447	955	146237											
EDNRB	1910	broad.mit.edu	37	chr13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-													ttcacaggtcattagtgtatAaaaaaatgcagtgatggcca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:78475267delA	uc001vko.2	-	4	1135	c.877delT	c.(877-879)TATfs	p.Y293fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.Y376fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	293	Helical; Name=5; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATTAGTGTATAAAAAAATGCA	0.343													-	78475267	A	-	78475267	7	5	283	1	0	1	0	1	0	0	0	0	4920	362	13	0	588	0	EDNRB	13	78475267	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	25054836	78475267	36694611	956	146238											
SLITRK5	26050	broad.mit.edu	37	chr13	88328753	88328753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcagaccaaatccccggtGcctttggagtgtcccaccgc	9	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:88328753G>A	uc001vln.2	+	2	1329	c.1110G>A	c.(1108-1110)GTG>GTA	p.V370V	SLITRK5_uc010tic.1_Silent_p.V129V	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	370	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATCCCCGGTGCCTTTGGAGT	0.592													A	88328753	G	A	88328753	2	1	283	1	0	0	0	0	0	0	0	1	14746	1306	46	2		2	SLITRK5	13	88328753	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9853486	88328753	26841125	957	146239											
SLITRK5	26050	broad.mit.edu	37	chr13	88329438	88329438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggcgcccaaaaaattcGctgagaccgacatgcgctcc	10	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:88329438G>A	uc001vln.2	+	2	2014	c.1795G>A	c.(1795-1797)GCT>ACT	p.A599T	SLITRK5_uc010tic.1_Missense_Mutation_p.A358T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	599	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAAAAAATTCGCTGAGACCGA	0.547													A	88329438	G	A	88329438	3	1	283	1	0	0	0	0	1	0	0	0	14746	1087	38	1	1797	1	SLITRK5	13	88329438	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	685	88329438	26840440	958	146240											
GPC5	2262	broad.mit.edu	37	chr13	92101090	92101090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagagatatcagattgCggctcgccaggatatgcagc	15	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:92101090C>T	uc010tif.1	+	2	605	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	80						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATCAGATTGCGGCTCGCCAG	0.433													T	92101090	C	T	92101090	3	4	283	1	0	0	0	0	1	0	0	0	6601	768	27	1	245	1	GPC5	13	92101090	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3771652	92101090	23068788	959	146241											
FARP1	10160	broad.mit.edu	37	chr13	98865614	98865614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaccttcaggaaaactcGtgtccatcaaaatccagatg	6	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:98865614G>A	uc001vnj.2	+	2	454	c.118G>A	c.(118-120)GTG>ATG	p.V40M	FARP1_uc001vnh.2_Missense_Mutation_p.V40M|FARP1_uc001vni.2_Missense_Mutation_p.V40M	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	40	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGAAAACTCGTGTCCATCAA	0.562													A	98865614	G	A	98865614	3	1	283	1	0	0	0	0	1	0	0	0	5676	1145	40	1	120	1	FARP1	13	98865614	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6764524	98865614	16304264	960	146242											
NALCN	259232	broad.mit.edu	37	chr13	101714451	101714451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcttccggatgtccaCggaccggtatgaaagcatgc	11	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:101714451C>T	uc001vox.1	-	41	4813	c.4624G>A	c.(4624-4626)GTG>ATG	p.V1542M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1542	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGATGTCCACGGACCGGTAT	0.547													T	101714451	C	T	101714451	3	4	283	1	0	0	0	0	1	0	0	0	10148	536	19	1	608	1	NALCN	13	101714451	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2848837	101714451	13455427	961	146243											
ERCC5	2073	broad.mit.edu	37	chr13	103459769	103459769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggtcccaaaggagatgGtcattatccatggagttgtc	12	8	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:103459769G>A	uc001vpu.1	+	1	274	c.152G>A	c.(151-153)GGT>GAT	p.G51D	BIVM_uc001vps.2_Missense_Mutation_p.G51D|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.G51D	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAGGAGATGGTCATTATCCA	0.448			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				A	103459769	G	A	103459769	3	1	283	1	0	0	0	0	1	0	0	0	5216	1261	44	4		4	ERCC5	13	103459769	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1745318	103459769	11710109	962	146244											
ATP4B	496	broad.mit.edu	37	chr13	114303832	114303832	+	Frame_Shift_Del	DEL	G	G	-													gaggagcttcgctgccaccaGggggttgctgtagtggggct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:114303832delG	uc001vtz.2	-	7	775	c.733delC	c.(733-735)CTGfs	p.L245fs		NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	245	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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;0.171)		Rabeprazole(DB01129)	GCTGCCACCAGGGGGTTGCTG	0.537													-	114303832	G	-	114303832	7	5	283	1	0	1	0	1	0	0	0	0	1146	991	35	0	146	0	ATP4B	13	114303832	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	10844063	114303832	866046	963	146245											
ATP4B	496	broad.mit.edu	37	chr13	114307279	114307279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctgcagcatatctgccGtgaacttgcaggagaacttg	11	9	2	2	rs139958643		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr13:114307279G>A	uc001vtz.2	-	4	506	c.464C>T	c.(463-465)ACG>ATG	p.T155M	ATP4B_uc010agy.1_Missense_Mutation_p.T155M	NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	155	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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;0.171)		Rabeprazole(DB01129)	CATATCTGCCGTGAACTTGCA	0.517													A	114307279	G	A	114307279	3	1	283	1	0	0	0	0	1	0	0	0	1146	1145	40	1	427	1	ATP4B	13	114307279	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3447	114307279	862599	964	146246											
RNASE10	338879	broad.mit.edu	37	chr14	20978876	20978876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaacctggctggccagaAgatcccatcctcggtgaaga	12	12	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:20978876A>G	uc010tlj.1	+	1	246	c.246A>G	c.(244-246)GAA>GAG	p.E82E	RNASE10_uc001vxp.2_Silent_p.E110E	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	82						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GCTGGCCAGAAGATCCCATCC	0.532													G	20978876	A	G	20978876	2	3	283	1	0	0	0	0	0	0	0	1	13400	69	3	3		3	RNASE10	14	20978876	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08		20978876	86370664	965	146247											
C14orf93	60686	broad.mit.edu	37	chr14	23458986	23458986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtaattgtggggactgGtcaccagctcttgcttgagc	13	9	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23458986G>A	uc001wib.1	-	5	1359	c.1049C>T	c.(1048-1050)ACC>ATC	p.T350I	C14orf93_uc001wic.1_Missense_Mutation_p.T170I|C14orf93_uc001wid.1_Missense_Mutation_p.T350I|C14orf93_uc001wig.2_Missense_Mutation_p.T350I|C14orf93_uc001wih.2_Missense_Mutation_p.T350I|C14orf93_uc001wie.2_Missense_Mutation_p.T350I|C14orf93_uc001wia.3_Missense_Mutation_p.T350I|C14orf93_uc001wif.2_Missense_Mutation_p.T170I	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	350						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GTGGGGACTGGTCACCAGCTC	0.433													A	23458986	G	A	23458986	3	1	283	1	0	0	0	0	1	0	0	0	1782	1261	44	4	579	4	C14orf93	14	23458986	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2480110	23458986	83890554	966	146248											
CDH24	64403	broad.mit.edu	37	chr14	23518336	23518336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggatgccacagagccGtcaggctggcagcggcacac	14	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23518336G>A	uc001wil.2	-	12	2120	c.1860C>T	c.(1858-1860)GAC>GAT	p.D620D	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Silent_p.D582D	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	620	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCACAGAGCCGTCAGGCTGGC	0.642													A	23518336	G	A	23518336	2	1	283	1	0	0	0	0	0	0	0	1	3109	1136	40	1		1	CDH24	14	23518336	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	59350	23518336	83831204	967	146249											
ACIN1	22985	broad.mit.edu	37	chr14	23530746	23530746	+	Frame_Shift_Del	DEL	G	G	-													gctggaccgggggtgggggtGgggggtgcaggggccgtggt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23530745_23530745TG>T	uc001wit.4	-	16	3688	c.3360_3360CA>A	c.(3358-3360)ccafs	p.P1120fs	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.P362fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.P362fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.P393fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.P801fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.P1107fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.P1080fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1120	Pro-rich.				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)		GGGGTGGGGGTGGGGGGTGCA	0.657													-	23530746	G	-	23530746	7	5	283	1	0	1	0	1	0	0	0	0	142	1348	47	0	678	0	ACIN1	14	23530746	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	12410	23530746	83818794	968	146250											
IL25	64806	broad.mit.edu	37	chr14	23844958	23844958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaactcggagctgctctacCacaaccagactgtcttctac	7	15	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23844958C>T	uc001wjr.2	+	2	713	c.403C>T	c.(403-405)CAC>TAC	p.H135Y	IL25_uc001wjq.2_Missense_Mutation_p.H119Y|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	135					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GCTGCTCTACCACAACCAGAC	0.642													T	23844958	C	T	23844958	3	4	283	1	0	0	0	0	1	0	0	0	7678	594	21	4	422	4	IL25	14	23844958	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	314212	23844958	83504582	969	146251											
MYH7	4625	broad.mit.edu	37	chr14	23884369	23884369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgatctgctcggcttcGtccagccggtgctgcaggtc	15	13	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:23884369G>A	uc001wjx.2	-	37	5500	c.5394C>T	c.(5392-5394)GAC>GAT	p.D1798D		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1798	Potential.				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			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCGGCTTCGTCCAGCCGGT	0.617													A	23884369	G	A	23884369	2	1	283	1	0	0	0	0	0	0	0	1	10039	1136	40	1		1	MYH7	14	23884369	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	39411	23884369	83465171	970	146252											
GMPR2	51292	broad.mit.edu	37	chr14	24707977	24707977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccaatcttcagtgaggCgtgctagacctgagcagttc	11	10	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:24707977C>T	uc001wnr.2	+	10	1422	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	GMPR2_uc001wnv.2_Missense_Mutation_p.A184V|GMPR2_uc001wns.2_Missense_Mutation_p.A347V|GMPR2_uc001wnt.2_Missense_Mutation_p.A314V|GMPR2_uc001wnu.2_Missense_Mutation_p.A372V|GMPR2_uc001wnw.2_Missense_Mutation_p.A347V|GMPR2_uc010all.2_Missense_Mutation_p.A319V|GMPR2_uc001wnx.2_Missense_Mutation_p.A365V|GMPR2_uc010tod.1_Missense_Mutation_p.A314V|GMPR2_uc010alk.1_Missense_Mutation_p.A408V|GMPR2_uc010toe.1_Missense_Mutation_p.A408V	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	347					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			ovary(3)	3				GBM - Glioblastoma multiforme(265;0.0181)		TTCAGTGAGGCGTGCTAGACC	0.542													T	24707977	C	T	24707977	3	4	283	1	0	0	0	0	1	0	0	0	6497	768	27	1	1128	1	GMPR2	14	24707977	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	823608	24707977	82641563	971	146253											
PRKD1	5587	broad.mit.edu	37	chr14	30194878	30194878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccgtagaaaccacattcaggGaactgcaaatacaaatacca	6	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:30194878G>T	uc001wqh.2	-	2	448	c.267C>A	c.(265-267)TTC>TTA	p.F89L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	89					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACATTCAGGGAACTGCAAAT	0.373													T	30194878	G	T	30194878	3	4	283	1	0	0	0	0	1	0	0	0	12518	1165	41	5	2539	5	PRKD1	14	30194878	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5486901	30194878	77154662	972	146254											
AKAP6	9472	broad.mit.edu	37	chr14	33015029	33015029	+	Frame_Shift_Del	DEL	A	A	-													cccacgcagcctacattgccAaaaagaggactttttcttaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:33015029delA	uc001wrq.2	+	4	1340	c.1170delA	c.(1168-1170)CCAfs	p.P390fs	AKAP6_uc010aml.2_Frame_Shift_Del_p.P387fs	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	390					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	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)		CTACATTGCCAAAAAGAGGAC	0.418													-	33015029	A	-	33015029	7	5	283	1	0	1	0	1	0	0	0	0	455	117	5	0	1180	0	AKAP6	14	33015029	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	2820151	33015029	74334511	973	146255											
TRIM9	114088	broad.mit.edu	37	chr14	51467458	51467458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtatccatcggcgggcacCgtggacagaggtggctgttt	15	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:51467458C>T	uc001wyx.3	-	6	2172	c.1407G>A	c.(1405-1407)ACG>ACA	p.T469T	TRIM9_uc001wyy.2_Silent_p.T465T|TRIM9_uc001wyz.3_Silent_p.T469T	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	469	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGCGGGCACCGTGGACAGAG	0.547													T	51467458	C	T	51467458	2	4	283	1	0	0	0	0	0	0	0	1	16546	639	23	1		1	TRIM9	14	51467458	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	18452429	51467458	55882082	974	146256											
TRIM9	114088	broad.mit.edu	37	chr14	51477173	51477173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagacctgtggtctggcGcaatttcactgtgcagtgag	13	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:51477173G>A	uc001wyx.3	-	4	1846	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	TRIM9_uc001wyy.2_Missense_Mutation_p.R361C|TRIM9_uc001wyz.3_Missense_Mutation_p.R361C	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	361					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GTGGTCTGGCGCAATTTCACT	0.428													A	51477173	G	A	51477173	3	1	283	1	0	0	0	0	1	0	0	0	16546	1087	38	1	1129	1	TRIM9	14	51477173	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9715	51477173	55872367	975	146257											
TRIM9	114088	broad.mit.edu	37	chr14	51561501	51561501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggagaccccggagcccgCggcccgatggctctgggggg	19	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:51561501C>T	uc001wyx.3	-	1	922	c.157G>A	c.(157-159)GCG>ACG	p.A53T	TRIM9_uc001wyy.2_Missense_Mutation_p.A53T|TRIM9_uc001wyz.3_Missense_Mutation_p.A53T	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	53					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CCGGAGCCCGCGGCCCGATGG	0.632													T	51561501	C	T	51561501	3	4	283	1	0	0	0	0	1	0	0	0	16546	768	27	1	2065	1	TRIM9	14	51561501	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	84328	51561501	55788039	976	146258											
PTGER2	5732	broad.mit.edu	37	chr14	52781592	52781592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccgagagccgcgcgtGcacctacttcgctttcgcca	12	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:52781592G>A	uc001wzr.2	+	1	577	c.326G>A	c.(325-327)TGC>TAC	p.C109Y		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	109	Extracellular (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	AGCCGCGCGTGCACCTACTTC	0.647													A	52781592	G	A	52781592	3	1	283	1	0	0	0	0	1	0	0	0	12743	1319	46	2	328	2	PTGER2	14	52781592	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1220091	52781592	54567948	977	146259											
SAMD4A	23034	broad.mit.edu	37	chr14	55169045	55169045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcacttggaggaccgcacGtcgaccagctttggtggcca	12	12	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:55169045G>A	uc001xbb.2	+	2	460	c.459G>A	c.(457-459)ACG>ACA	p.T153T	SAMD4A_uc001xba.2_Silent_p.T153T|SAMD4A_uc001xbc.2_Silent_p.T153T|SAMD4A_uc001xbf.1_RNA|SAMD4A_uc001xbe.2_Silent_p.T53T	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	154					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0						AGGACCGCACGTCGACCAGCT	0.517													A	55169045	G	A	55169045	2	1	283	1	0	0	0	0	0	0	0	1	13821	1132	40	1		1	SAMD4A	14	55169045	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2387453	55169045	52180495	978	146260											
TBPL2	387332	broad.mit.edu	37	chr14	55907244	55907244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctcggaacccgctccGgccagggcgcagaggccatt	14	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:55907244G>A	uc001xby.2	-	1	20	c.20C>T	c.(19-21)CCG>CTG	p.P7L		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	7					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						AACCCGCTCCGGCCAGGGCGC	0.692													A	55907244	G	A	55907244	3	1	283	1	0	0	0	0	1	0	0	0	15643	1116	39	1	1135	1	TBPL2	14	55907244	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	738199	55907244	51442296	979	146261											
KTN1	3895	broad.mit.edu	37	chr14	56101377	56101377	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagctactcagttgaagGtgatatattctcacctttat	7	8	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:56101377G>A	uc001xcb.2	+	10	1763	c.1461_splice	c.e10+1	p.K487_splice	KTN1_uc001xce.2_Splice_Site_p.K487_splice|KTN1_uc001xcc.2_Splice_Site_p.K487_splice|KTN1_uc001xcd.2_Splice_Site_p.K487_splice|KTN1_uc010trb.1_Splice_Site_p.K487_splice|KTN1_uc001xcf.1_Splice_Site_p.K487_splice	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a						microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						TCAGTTGAAGGTGATATATTC	0.284			T	RET	papillary thryoid								A	56101377	G	A	56101377	5	1	283	1	0	0	0	0	0	0	1	0	8585	1275	44	4	1492	4	KTN1	14	56101377	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	194133	56101377	51248163	980	146262											
OTX2	5015	broad.mit.edu	37	chr14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-													cctctcccggcgctgtttccGgggggtggctgcgggacaag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:57271049delG	uc001xcp.2	-	2	277	c.106delC	c.(106-108)CGGfs	p.R36fs	OTX2_uc010aou.2_Frame_Shift_Del_p.R36fs|OTX2_uc001xcq.2_Frame_Shift_Del_p.R44fs	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CGCTGTTTCCGGGGGGTGGCT	0.632													-	57271049	G	-	57271049	7	5	283	1	0	1	0	1	0	0	0	0	11321	1115	39	0	771	0	OTX2	14	57271049	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1169672	57271049	50078491	981	146263											
SLC35F4	341880	broad.mit.edu	37	chr14	58063406	58063406	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatattgtccatagttaccTaaaaagttggtaacttgtgt	7	5	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:58063406T>C	uc001xdb.1	-	1	210	c.210A>G	c.(208-210)TTA>TTG	p.L70L	SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Intron	NM_001080455	NP_001073924			solute carrier family 35, member F4											ovary(2)	2						CATAGTTACCTAAAAAGTTGG	0.373													C	58063406	T	C	58063406	2	2	283	1	0	0	0	0	0	0	0	1	14591	1536	53	3		3	SLC35F4	14	58063406	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	792357	58063406	49286134	982	146264											
ARID4A	5926	broad.mit.edu	37	chr14	58825911	58825912	+	Frame_Shift_Ins	INS	-	-	A													ggacaaaggtggaccaaagaINSaaaaacagaagaaaaaagct					rs151278543		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:58825910_58825911G>GA	uc001xdp.3	+	17	2168_2169	c.1914_1915G>GA	c.(1912-1917)aagaaafs	p.K638fs	ARID4A_uc001xdo.3_Frame_Shift_Ins_p.K638fs|ARID4A_uc001xdq.3_Frame_Shift_Ins_p.K638fs|ARID4A_uc010apg.1_Frame_Shift_Ins_p.K316fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	638					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.K638K(2)		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						GTGGACCAAAGAAAAAACAGAA	0.292													A	58825912	-	A	58825911	7	5	283	1	0	1	1	0	0	0	0	0	919	247	9	0	1981	0	ARID4A	14	58825911	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	762505	58825911	48523629	983	146265											
C14orf39	317761	broad.mit.edu	37	chr14	60938346	60938346	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgctttgaatttcttcAtgttctcttttcttctcata	3	10	6	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:60938346A>G	uc001xez.3	-	6	545	c.435T>C	c.(433-435)CAT>CAC	p.H145H	C14orf39_uc010apo.2_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	145										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GAATTTCTTCATGTTCTCTTT	0.274													G	60938346	A	G	60938346	2	3	283	1	0	0	0	0	0	0	0	1	1772	214	8	3		3	C14orf39	14	60938346	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2112435	60938346	46411194	984	146266											
KCNH5	27133	broad.mit.edu	37	chr14	63174303	63174303	+	Frame_Shift_Del	DEL	G	G	-													aatatcctgacatggtatctGggggggtacttggagtggca					rs35940222		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:63174302_63174302TG>T	uc001xfx.3	-	10	2942	c.2891_2891CA>A	c.(2890-2892)cagfs	p.Q964fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	964					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)		ACATGGTATCTGGGGGGGTAC	0.388													-	63174303	G	-	63174303	7	5	283	1	0	1	0	1	0	0	0	0	8035	1357	47	0	80	0	KCNH5	14	63174303	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	2235957	63174303	44175237	985	146267											
SGPP1	81537	broad.mit.edu	37	chr14	64153092	64153092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtaatggggggcccagCtaaaggtaatgtatctagag	13	7	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:64153092C>T	uc001xgj.2	-	3	1151	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	353						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GGGGGCCCAGCTAAAGGTAAT	0.403													T	64153092	C	T	64153092	3	4	283	1	0	0	0	0	1	0	0	0	14219	797	28	2	272	2	SGPP1	14	64153092	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	978789	64153092	43196448	986	146268											
HSPA2	3306	broad.mit.edu	37	chr14	65007663	65007663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggagatcatcgccaaCgaccagggcaatcgcaccac	11	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:65007663C>T	uc001xhj.2	+	2	172	c.96C>T	c.(94-96)AAC>AAT	p.N32N	HSPA2_uc001xhk.3_Silent_p.N32N	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	32					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCATCGCCAACGACCAGGGCA	0.642													T	65007663	C	T	65007663	2	4	283	1	0	0	0	0	0	0	0	1	7411	535	19	1		1	HSPA2	14	65007663	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	854571	65007663	42341877	987	146269											
SPTB	6710	broad.mit.edu	37	chr14	65250966	65250966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaatcactttacttaccGcatcgatgttctctagccac	5	15	2	0	rs113139501	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:65250966G>A	uc001xht.2	-	18	4055	c.4001C>T	c.(4000-4002)GCG>GTG	p.A1334V	SPTB_uc001xhr.2_Missense_Mutation_p.A1334V|SPTB_uc001xhs.2_Missense_Mutation_p.A1334V|SPTB_uc001xhu.2_Missense_Mutation_p.A1334V|SPTB_uc010aqi.2_5'Flank	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1334	Spectrin 10.				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			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		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)		TTTACTTACCGCATCGATGTT	0.537													A	65250966	G	A	65250966	3	1	283	1	0	0	0	0	1	0	0	0	15117	1101	38	1	3126	1	SPTB	14	65250966	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	243303	65250966	42098574	988	146270											
GPX2	2877	broad.mit.edu	37	chr14	65406456	65406456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctcgttctgcccaTtcacctcacatttttggaca	7	13	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:65406456T>G	uc010tsn.1	-	3	410	c.323A>C	c.(322-324)AAT>ACT	p.N108T	CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	NM_002083	NP_002074	P18283	GPX2_HUMAN	glutathione peroxidase 2	108					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			ovary(1)	1				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GTTCTGCCCATTCACCTCACA	0.512													G	65406456	T	G	65406456	3	3	283	1	0	0	0	0	1	0	0	0	6740	1493	52	5	253	5	GPX2	14	65406456	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	155490	65406456	41943084	989	146271											
GPHN	10243	broad.mit.edu	37	chr14	67490373	67490373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtccaggtgcagcagcaaGgagaacattctcagagccag	12	11	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:67490373G>T	uc001xiy.2	+	9	2009	c.888G>T	c.(886-888)AAG>AAT	p.K296N	GPHN_uc001xiw.2_Missense_Mutation_p.K311N|GPHN_uc001xix.2_Missense_Mutation_p.K329N|GPHN_uc010tss.1_Missense_Mutation_p.K342N|GPHN_uc010tst.1_Missense_Mutation_p.K265N|GPHN_uc010tsu.1_Missense_Mutation_p.K219N	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	296	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GCAGCAGCAAGGAGAACATTC	0.383			T	MLL	AL								T	67490373	G	T	67490373	3	4	283	1	0	0	0	0	1	0	0	0	6610	991	35	5	1025	5	GPHN	14	67490373	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2083917	67490373	39859167	990	146272											
DPF3	8110	broad.mit.edu	37	chr14	73159844	73159844	+	Frame_Shift_Del	DEL	C	C	-													ctcctggtcttgagcttcatCcccctcctcgctggccaggt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:73159843_73159843TC>T	uc001xnc.2	-	6	696	c.683_683GA>A	c.(682-684)gatfs	p.D228fs	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Frame_Shift_Del_p.D228fs|DPF3_uc010ttq.1_Frame_Shift_Del_p.D238fs	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	228					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)		TTGAGCTTCATCCCCCTCCTC	0.557													-	73159844	C	-	73159844	7	5	283	1	0	1	0	1	0	0	0	0	4718	855	30	0	403	0	DPF3	14	73159844	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	5669471	73159844	34189696	991	146273											
PSEN1	5663	broad.mit.edu	37	chr14	73637650	73637650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgacattgaaatatgGcgccaagcatgtgatcatgc	12	8	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:73637650G>A	uc001xnr.2	+	4	517	c.233G>A	c.(232-234)GGC>GAC	p.G78D	PSEN1_uc001xnv.2_Missense_Mutation_p.G74D|PSEN1_uc010ark.2_Missense_Mutation_p.G74D|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.G78D	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467	78	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|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|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTGAAATATGGCGCCAAGCAT	0.527													A	73637650	G	A	73637650	3	1	283	1	0	0	0	0	1	0	0	0	12650	1203	42	2	239	2	PSEN1	14	73637650	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	477806	73637650	33711890	992	146274											
PAPLN	89932	broad.mit.edu	37	chr14	73730965	73730965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcatccaccccctgcagGcagaggacgcgggcacctac	11	16	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:73730965G>A	uc010ttx.1	+	20	3071	c.2908G>A	c.(2908-2910)GCA>ACA	p.A970T	PAPLN_uc001xnw.3_Missense_Mutation_p.A943T|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.A954T|PAPLN_uc010arm.2_Missense_Mutation_p.A169T|PAPLN_uc010arn.2_Missense_Mutation_p.A170T	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	970	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCCTGCAGGCAGAGGACGC	0.637													A	73730965	G	A	73730965	3	1	283	1	0	0	0	0	1	0	0	0	11428	1203	42	2	2901	2	PAPLN	14	73730965	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	93315	73730965	33618575	993	146275											
ENTPD5	957	broad.mit.edu	37	chr14	74454592	74454592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccagttgcacttacctgGcattttctgcacaaaggtgt	9	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:74454592G>A	uc010tuo.1	-	4	525	c.214C>T	c.(214-216)CCA>TCA	p.P72S	ENTPD5_uc001xpi.2_Missense_Mutation_p.P72S	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	72					'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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CACTTACCTGGCATTTTCTGC	0.433													A	74454592	G	A	74454592	3	1	283	1	0	0	0	0	1	0	0	0	5142	1203	42	2	1124	2	ENTPD5	14	74454592	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	723627	74454592	32894948	994	146276											
VSX2	338917	broad.mit.edu	37	chr14	74726453	74726453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaagtcagccaaggatgGcatcatggactcctgtgccc	10	14	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:74726453G>A	uc001xpq.2	+	4	818	c.728G>A	c.(727-729)GGC>GAC	p.G243D		NM_182894	NP_878314	P58304	VSX2_HUMAN	visual system homeobox 2	243	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCCAAGGATGGCATCATGGAC	0.662													A	74726453	G	A	74726453	3	1	283	1	0	0	0	0	1	0	0	0	17229	1203	42	2	742	2	VSX2	14	74726453	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	271861	74726453	32623087	995	146277											
LTBP2	4053	broad.mit.edu	37	chr14	74973512	74973512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacacatggtgtcgttggCgcactcgtctatgtctgtgg	13	11	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:74973512C>T	uc001xqa.2	-	27	4309	c.3922G>A	c.(3922-3924)GCC>ACC	p.A1308T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1308	Cys-rich.|EGF-like 15; 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			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGTCGTTGGCGCACTCGTCT	0.458													T	74973512	C	T	74973512	3	4	283	1	0	0	0	0	1	0	0	0	9074	768	27	1	1583	1	LTBP2	14	74973512	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	247059	74973512	32376028	996	146278											
NRXN3	9369	broad.mit.edu	37	chr14	79433671	79433671	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgggacaatagtaacacTcatagcctgaaagtggacac	9	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:79433671T>C	uc001xun.2	+	10	2270	c.1779T>C	c.(1777-1779)ACT>ACC	p.T593T	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.T718T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	966	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATAGTAACACTCATAGCCTGA	0.438													C	79433671	T	C	79433671	2	2	283	1	0	0	0	0	0	0	0	1	10667	1538	54	3		3	NRXN3	14	79433671	Silent	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	4460159	79433671	27915869	997	146279											
NRXN3	9369	broad.mit.edu	37	chr14	79434665	79434665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgctcttcatcggagcGgacagatcgagcgtggctgt	14	9	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:79434665G>A	uc001xun.2	+	11	2490	c.1999G>A	c.(1999-2001)GGA>AGA	p.G667R	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G792R	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1040	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCATCGGAGCGGACAGATCGA	0.522													A	79434665	G	A	79434665	3	1	283	1	0	0	0	0	1	0	0	0	10667	1117	39	1	2033	1	NRXN3	14	79434665	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	994	79434665	27914875	998	146280											
DIO2	1734	broad.mit.edu	37	chr14	80677760	80677760	+	Frame_Shift_Del	DEL	A	A	-													ccaggaagaggcagttggagAaaaaaactggcagaatttgc					rs148778534		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:80677760delA	uc010tvq.1	-	2	458	c.56delT	c.(55-57)TTCfs	p.F19fs	uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Frame_Shift_Del_p.F19fs|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Frame_Shift_Del_p.F19fs|DIO2_uc010tvr.1_Frame_Shift_Del_p.F19fs|DIO2_uc010asy.2_Frame_Shift_Del_p.F19fs	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	19	Helical; (Potential).				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)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAGTTGGAGAAAAAAACTGG	0.557													-	80677760	A	-	80677760	7	5	283	1	0	1	0	1	0	0	0	0	4525	246	9	0	885	0	DIO2	14	80677760	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	1243095	80677760	26671780	999	146281											
FLRT2	23768	broad.mit.edu	37	chr14	86088724	86088724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatccaacaaccaactgcGgatgctgactcaaggggttt	9	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:86088724G>A	uc001xvr.2	+	2	1633	c.866G>A	c.(865-867)CGG>CAG	p.R289Q	FLRT2_uc010atd.2_Missense_Mutation_p.R289Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	289	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AACCAACTGCGGATGCTGACT	0.458													A	86088724	G	A	86088724	3	1	283	1	0	0	0	0	1	0	0	0	5939	1116	39	1	868	1	FLRT2	14	86088724	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5410964	86088724	21260816	1000	146282											
GPR65	8477	broad.mit.edu	37	chr14	88477555	88477555	+	Frame_Shift_Del	DEL	T	T	-													ctgttgtctaccctttgaagTtttttttcctaaggacaaga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:88477554_88477554GT>G	uc021rxh.1	+	0	363	c.363_363GT>G	c.(361-363)aagfs	p.K121fs	GPR65_uc001xvv.3_Frame_Shift_Del_p.K121fs	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	121					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						ACCCTTTGAAGTTTTTTTTCC	0.423													-	88477555	T	-	88477555	7	5	283	1	0	1	0	1	0	0	0	0	6706	1725	60	0	366	0	GPR65	14	88477555	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	2388831	88477555	18871985	1001	146283											
TDP1	55775	broad.mit.edu	37	chr14	90485721	90485721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcacccagctgatgatcCgctcctacgagctcggggtc	12	14	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:90485721C>T	uc001xxy.2	+	15	1902	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.R535C|TDP1_uc010atn.2_Missense_Mutation_p.R535C|TDP1_uc001xya.2_Missense_Mutation_p.R296C|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.R535C|TDP1_uc001xyd.1_Missense_Mutation_p.R150C	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	535					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			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCTGATGATCCGCTCCTACGA	0.532								Repair_of_DNA-protein_crosslinks					T	90485721	C	T	90485721	3	4	283	1	0	0	0	0	1	0	0	0	15725	652	23	1	1653	1	TDP1	14	90485721	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2008166	90485721	16863819	1002	146284											
CCDC88C	440193	broad.mit.edu	37	chr14	91739837	91739837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcagcggcctcccctccGaggtgggggcggccattttg	15	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:91739837G>A	uc010aty.2	-	30	5318	c.5219C>T	c.(5218-5220)TCG>TTG	p.S1740L	CCDC88C_uc001xzj.2_Missense_Mutation_p.S264L|CCDC88C_uc001xzi.2_Missense_Mutation_p.S190L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1740					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			ovary(3)	3		all_cancers(154;0.0468)				CCTCCCCTCCGAGGTGGGGGC	0.657													A	91739837	G	A	91739837	3	1	283	1	0	0	0	0	1	0	0	0	2865	1059	37	1	871	1	CCDC88C	14	91739837	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1254116	91739837	15609703	1003	146285											
MOAP1	64112	broad.mit.edu	37	chr14	93650552	93650552	+	Frame_Shift_Del	DEL	C	C	-													ttccgagggttcatgtccatCcccctgcaccagtcttctaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:93650551_93650551TC>T	uc021saw.1	-	0	37	c.37_37GA>A	c.(37-39)atgfs	p.M13fs	MOAP1_uc001ybj.3_Frame_Shift_Del_p.M13fs|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	13					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507													-	93650552	C	-	93650552	7	5	283	1	0	1	0	1	0	0	0	0	9680	842	30	0	1023	0	MOAP1	14	93650552	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	1910715	93650552	13698988	1004	146286											
BTBD7	55727	broad.mit.edu	37	chr14	93760990	93760990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatctttctgcaatgtccGggcttctggtctagccaaac	8	12	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:93760990G>A	uc001ybo.2	-	3	702	c.376C>T	c.(376-378)CGG>TGG	p.R126W	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.R41W|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.R41W|BTBD7_uc001ybr.2_Missense_Mutation_p.R126W	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	126										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCAATGTCCGGGCTTCTGGT	0.403													A	93760990	G	A	93760990	3	1	283	1	0	0	0	0	1	0	0	0	1546	1115	39	1	3133	1	BTBD7	14	93760990	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	110438	93760990	13588550	1005	146287											
OTUB2	78990	broad.mit.edu	37	chr14	94510329	94510329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtaggttcaaagaacgCgtactgcagaccccaaatga	9	11	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:94510329C>T	uc001yci.2	+	4	391	c.231C>T	c.(229-231)CGC>CGT	p.R77R		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	77	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		TCAAAGAACGCGTACTGCAGA	0.527													T	94510329	C	T	94510329	2	4	283	1	0	0	0	0	0	0	0	1	11312	755	27	1		1	OTUB2	14	94510329	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	749339	94510329	12839211	1006	146288											
DYNC1H1	1778	broad.mit.edu	37	chr14	102493861	102493861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcctggagcgaatgaatAcccttctggccaatggagag	12	9	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102493861A>G	uc001yks.2	+	46	9192	c.9028A>G	c.(9028-9030)ACC>GCC	p.T3010A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3010	AAA 4 (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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCGAATGAATACCCTTCTGGC	0.453													G	102493861	A	G	102493861	3	3	283	1	0	0	0	0	1	0	0	0	4841	391	14	3	9210	3	DYNC1H1	14	102493861	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	7983532	102493861	4855679	1007	146289											
DYNC1H1	1778	broad.mit.edu	37	chr14	102494016	102494016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgcagtgcaaagaggggGcacagaaggaaggcctgatg	17	7	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102494016G>A	uc001yks.2	+	47	9273	c.9109G>A	c.(9109-9111)GCA>ACA	p.A3037T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3037	AAA 4 (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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAAAGAGGGGGCACAGAAGGA	0.562													A	102494016	G	A	102494016	3	1	283	1	0	0	0	0	1	0	0	0	4841	1203	42	2	9295	2	DYNC1H1	14	102494016	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	155	102494016	4855524	1008	146290											
DYNC1H1	1778	broad.mit.edu	37	chr14	102502908	102502908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgtaagatcacacggaccAgcttcctggatgacgccttc	9	13	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102502908A>G	uc001yks.2	+	57	11001	c.10837A>G	c.(10837-10839)AGC>GGC	p.S3613G		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3613	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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CACACGGACCAGCTTCCTGGA	0.483													G	102502908	A	G	102502908	3	3	283	1	0	0	0	0	1	0	0	0	4841	188	7	3	11063	3	DYNC1H1	14	102502908	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	8892	102502908	4846632	1009	146291											
WDR20	91833	broad.mit.edu	37	chr14	102675067	102675067	+	Frame_Shift_Del	DEL	C	C	-													gcacacttgtggcaccacagCcccccactaccagcttctga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:102675067delC	uc001ykz.2	+	3	609	c.560delC	c.(559-561)GCCfs	p.A187fs	WDR20_uc001yky.1_Intron|WDR20_uc001yla.2_Frame_Shift_Del_p.A63fs|WDR20_uc001ylb.2_Frame_Shift_Del_p.A126fs|WDR20_uc010txu.1_Frame_Shift_Del_p.A218fs|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Frame_Shift_Del_p.A187fs|WDR20_uc001yle.2_Frame_Shift_Del_p.A126fs|WDR20_uc001ylf.2_Frame_Shift_Del_p.A199fs	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	187	WD 1.										0						GGCACCACAGCCCCCCACTAC	0.537													-	102675067	C	-	102675067	7	5	283	1	0	1	0	1	0	0	0	0	17277	739	26	0	587	0	WDR20	14	102675067	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	172159	102675067	4674473	1010	146292											
AMN	81693	broad.mit.edu	37	chr14	103390134	103390134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaaccggaccccgtgcGccggcggcgccgttgagttc	15	16	0	2	rs138106067	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:103390134G>A	uc001ymg.3	+	2	163	c.130G>A	c.(130-132)GCC>ACC	p.A44T	AMN_uc001ymh.3_5'UTR	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	amnionless protein precursor	44	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane					0				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACCCCGTGCGCCGGCGGCGC	0.721													A	103390134	G	A	103390134	3	1	283	1	0	0	0	0	1	0	0	0	580	1087	38	1	136	1	AMN	14	103390134	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	715067	103390134	3959406	1011	146293											
CDC42BPB	9578	broad.mit.edu	37	chr14	103440432	103440432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgcgtggagtcctcaCgctcttggcgaagcgccact	13	15	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:103440432C>T	uc001ymi.1	-	12	1794	c.1562G>A	c.(1561-1563)CGT>CAT	p.R521H		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	521	Potential.				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			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGAGTCCTCACGCTCTTGGCG	0.572													T	103440432	C	T	103440432	3	4	283	1	0	0	0	0	1	0	0	0	3073	536	19	1	3677	1	CDC42BPB	14	103440432	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	50298	103440432	3909108	1012	146294											
PLD4	122618	broad.mit.edu	37	chr14	105397224	105397224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcatctcacttcaaccGtttccagcccttccacggcc	4	19	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:105397224G>A	uc001ypu.1	+	7	1004	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PLD4_uc010tyl.1_Missense_Mutation_p.R295H	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	288					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CACTTCAACCGTTTCCAGCCC	0.577													A	105397224	G	A	105397224	3	1	283	1	0	0	0	0	1	0	0	0	12048	1145	40	1	885	1	PLD4	14	105397224	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1956792	105397224	1952316	1013	146295											
AHNAK2	113146	broad.mit.edu	37	chr14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctccacgtcgggggccGtcacgtccgtcttcgggcct	12	17	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr14:105412495G>A	uc010axc.1	-	7	9413	c.9293C>T	c.(9292-9294)ACG>ATG	p.T3098M	AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						nucleus				ovary(1)	1		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)			GTCGGGGGCCGTCACGTCCGT	0.627													A	105412495	G	A	105412495	3	1	283	1	0	0	0	0	1	0	0	0	415	1145	40	1	8098	1	AHNAK2	14	105412495	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	15271	105412495	1937045	1014	146296											
NIPA2	81614	broad.mit.edu	37	chr15	23006790	23006790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgtttgtctgtccatggcGaggacccaccacgaagatta	10	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:23006790G>A	uc001yux.2	-	8	1127	c.514C>T	c.(514-516)CGC>TGC	p.R172C	NIPA2_uc001yuy.2_Missense_Mutation_p.R172C|NIPA2_uc001yuz.2_Missense_Mutation_p.R172C|NIPA2_uc001yva.2_Missense_Mutation_p.R153C|NIPA2_uc001yvb.2_Missense_Mutation_p.R172C|NIPA2_uc010ayb.2_Missense_Mutation_p.R153C	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	172	Cytoplasmic (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TGTCCATGGCGAGGACCCACC	0.463													A	23006790	G	A	23006790	3	1	283	1	0	0	0	0	1	0	0	0	10423	1058	37	1	572	1	NIPA2	15	23006790	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08		23006790	79524602	1015	146297											
OCA2	4948	broad.mit.edu	37	chr15	28200305	28200306	+	Splice_Site	INS	-	-	T													ggaaagaaagctgggtacctINSttttttggagttcttggata							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:28200304_28200305C>CT	uc001zbh.4	-	17	1952	c.1842_splice	c.e17+1	p.K614_splice	OCA2_uc010ayv.3_Splice_Site_p.K590_splice	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	614			K -> E (in OCA2).|K -> N (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate 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)		AGCTGGGTACCTTTTTTTGGAG	0.441									Oculocutaneous Albinism				T	28200306	-	T	28200305	8	5	283	1	0	1	1	0	0	0	1	0	10815	1623	56	0	707	0	OCA2	15	28200305	Splice_Site	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	5193515	28200305	74331087	1016	146298											
HERC2	8924	broad.mit.edu	37	chr15	28369270	28369270	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgagcgagccttccaggtcGaacatggggatgcaggggca	16	10	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:28369270G>A	uc001zbj.2	-	85	13207	c.13101C>T	c.(13099-13101)TTC>TTT	p.F4367F		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4367					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CTTCCAGGTCGAACATGGGGA	0.567													A	28369270	G	A	28369270	2	1	283	1	0	0	0	0	0	0	0	1	7058	1049	37	1		1	HERC2	15	28369270	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	168965	28369270	74162122	1017	146299											
HERC2	8924	broad.mit.edu	37	chr15	28478342	28478342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagctatcctcctccaaCggggcaaagaacttaacaat	7	11	0	2	rs112385654	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:28478342C>T	uc001zbj.2	-	30	4731	c.4625G>A	c.(4624-4626)CGT>CAT	p.R1542H		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1542					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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)		CCTCCTCCAACGGGGCAAAGA	0.373													T	28478342	C	T	28478342	3	4	283	1	0	0	0	0	1	0	0	0	7058	536	19	1	10135	1	HERC2	15	28478342	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	109072	28478342	74053050	1018	146300											
TRPM1	4308	broad.mit.edu	37	chr15	31323347	31323347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatgaccacaaagtacAgcatgtcgatcatctgagta	9	9	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:31323347A>G	uc001zfm.2	-	22	3028	c.2900T>C	c.(2899-2901)CTG>CCG	p.L967P	TRPM1_uc010azy.2_Missense_Mutation_p.L874P|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	967	Helical; (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		CACAAAGTACAGCATGTCGAT	0.498													G	31323347	A	G	31323347	3	3	283	1	0	0	0	0	1	0	0	0	16582	188	7	3	1935	3	TRPM1	15	31323347	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2845005	31323347	71208045	1019	146301											
CHRNA7	1139	broad.mit.edu	37	chr15	32404036	32404037	+	Frame_Shift_Ins	INS	-	-	G													gaatgtgtcagaatatccagINSgggtgaagactgttcgtttc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:32404035_32404036A>AG	uc021sic.1	+	3	479_480	c.372_373A>AG	c.(370-375)ccagggfs	p.P124fs	CHRNA7_uc010bad.2_Non-coding_Transcript|CHRNA7_uc010bab.2_Frame_Shift_Ins_p.P95fs|CHRNA7_uc010bac.2_Frame_Shift_Ins_p.P95fs|CHRNA7_uc010bae.2_Intron|CHRNA7_uc001zft.3_Frame_Shift_Ins_p.P95fs|CHRNA7_uc010baf.3_Intron|CHRNA7_uc010bag.1_Non-coding_Transcript|CHRNA7_uc010bah.1_Non-coding_Transcript|CHRNA7_uc010bai.1_Non-coding_Transcript|CHRNA7_uc010baj.1_5'Flank|CHRNA7_uc010bak.3_5'Flank	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	95					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)	CAGAATATCCAGGGGTGAAGAC	0.386													G	32404037	-	G	32404036	7	5	283	1	0	1	1	0	0	0	0	0	3388	1000	35	0	300	0	CHRNA7	15	32404036	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1080689	32404036	70127356	1020	146302											
RYR3	6263	broad.mit.edu	37	chr15	33876610	33876610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagctgctctcattcgcGgaaacagaaacaattgcgct	9	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:33876610G>A	uc001zhi.2	+	15	1658	c.1588G>A	c.(1588-1590)GGA>AGA	p.G530R	RYR3_uc010bar.2_Missense_Mutation_p.G530R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	530	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		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)		TCTCATTCGCGGAAACAGAAA	0.408													A	33876610	G	A	33876610	3	1	283	1	0	0	0	0	1	0	0	0	13770	1117	39	1	1646	1	RYR3	15	33876610	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1472574	33876610	68654782	1021	146303											
C15orf55	256646	broad.mit.edu	37	chr15	34645957	34645957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcatggagtttgaggctgAggagatgcagattcagaaca	14	5	2	5			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:34645957A>G	uc001zif.2	+	4	1030	c.875A>G	c.(874-876)GAG>GGG	p.E292G	C15orf55_uc010ucc.1_Missense_Mutation_p.E320G|C15orf55_uc010ucd.1_Missense_Mutation_p.E310G	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	292						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TTTGAGGCTGAGGAGATGCAG	0.537			T	BRD3|BRD4	lethal midline carcinoma								G	34645957	A	G	34645957	3	3	283	1	0	0	0	0	1	0	0	0	1803	304	11	3	889	3	C15orf55	15	34645957	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	769347	34645957	67885435	1022	146304											
GPR176	11245	broad.mit.edu	37	chr15	40094180	40094180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttcttcttctggctgGcactcagggcccgtcggatc	11	14	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:40094180G>A	uc001zkj.1	-	3	1567	c.701C>T	c.(700-702)GCC>GTC	p.A234V	GPR176_uc010uck.1_Missense_Mutation_p.A174V	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	234	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		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)		CTTCTGGCTGGCACTCAGGGC	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	40094180	G	A	40094180	3	1	283	1	0	0	0	0	1	0	0	0	6673	1203	42	2	850	2	GPR176	15	40094180	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5448223	40094180	62437212	1023	146305											
PAK6	56924	broad.mit.edu	37	chr15	40558255	40558255	+	Frame_Shift_Del	DEL	C	C	-													ccccagtctgagcgcactgaCccccacggcctctacctcag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:40558255delC	uc010bbl.2	+	5	857	c.417delC	c.(415-417)GACfs	p.D139fs	PAK6_uc010bbm.2_Frame_Shift_Del_p.D139fs|PAK6_uc001zky.3_Frame_Shift_Del_p.D139fs|PAK6_uc010bbn.2_Frame_Shift_Del_p.D139fs|PAK6_uc001zlb.2_Frame_Shift_Del_p.D139fs	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	139	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		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)		AGCGCACTGACCCCCACGGCC	0.701													-	40558255	C	-	40558255	7	5	283	1	0	1	0	1	0	0	0	0	11404	506	18	0	423	0	PAK6	15	40558255	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	464075	40558255	61973137	1024	146306											
MGA	23269	broad.mit.edu	37	chr15	42005391	42005391	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacacaatcataaggaaaCgagcccctccctgcaacaat	5	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:42005391C>T	uc001zog.1	+	9	3218	c.3127C>T	c.(3127-3129)CGA>TGA	p.R1043*	MGA_uc010ucy.1_Nonsense_Mutation_p.R1043*|MGA_uc010ucz.1_Nonsense_Mutation_p.R1043*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	1043						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		CATAAGGAAACGAGCCCCTCC	0.488													T	42005391	C	T	42005391	4	4	283	1	0	0	0	0	0	1	0	0	9540	528	19	1	3157	1	MGA	15	42005391	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1447136	42005391	60526001	1025	146307											
MGA	23269	broad.mit.edu	37	chr15	42041948	42041948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtgcaactgtcaaaccatCtgagcattcctgtatcactg	7	11	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:42041948C>T	uc010ucy.1	+	17	6324	c.6143C>T	c.(6142-6144)TCT>TTT	p.S2048F	MGA_uc010ucz.1_Missense_Mutation_p.S1839F|MGA_uc010uda.1_Missense_Mutation_p.S664F|MGA_uc001zoi.2_Missense_Mutation_p.S262F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2009	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		GTCAAACCATCTGAGCATTCC	0.403													T	42041948	C	T	42041948	3	4	283	1	0	0	0	0	1	0	0	0	9540	913	32	4	6205	4	MGA	15	42041948	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	36557	42041948	60489444	1026	146308											
B2M	567	broad.mit.edu	37	chr15	45007824	45007825	+	Frame_Shift_Ins	INS	-	-	C													cttgtactacactgaattcaINScccccactgaaaaagatgag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:45007824_45007825insC	uc001zuc.2	+	2	331_332	c.271_272insC	c.(271-273)ACCfs	p.T91fs	B2M_uc010uek.1_Frame_Shift_Ins_p.T91fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	91	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			ovary(2)|skin(1)	3		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)		CACTGAATTCACCCCCACTGAA	0.416													C	45007825	-	C	45007824	7	5	283	1	0	1	1	0	0	0	0	0	1244	159	6	0	277	0	B2M	15	45007824	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	2965876	45007824	57523568	1027	146309	778	2									
B2M	567	broad.mit.edu	37	chr15	45007825	45007826	+	Frame_Shift_Ins	INS	-	-	C													ttgtactacactgaattcacINSccccactgaaaaagatgagt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:45007824_45007825A>AC	uc001zuc.3	+	1	331_332	c.271_272A>AC	c.(271-273)accfs	p.T91fs	B2M_uc010uek.1_Frame_Shift_Ins_p.T91fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	91	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	Golgi membrane|MHC class I protein complex|early endosome membrane	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)		CACTGAATTCACCCCCACTGAA	0.416													C	45007826	-	C	45007825	7	5	283	1	0	1	1	0	0	0	0	0	1244	507	18	0	278	0	B2M	15	45007825	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	45007825	57523567	1028	146310	778	2									
SEMA6D	80031	broad.mit.edu	37	chr15	48063749	48063749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagacagcctagtatgaacCgtggaggatatatgcccacc	10	12	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:48063749C>T	uc010bek.2	+	19	3349	c.2989C>T	c.(2989-2991)CGT>TGT	p.R997C	SEMA6D_uc001zvw.2_Missense_Mutation_p.R935C|SEMA6D_uc001zvy.2_Missense_Mutation_p.R997C|SEMA6D_uc001zvz.2_Missense_Mutation_p.R941C|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.R935C|SEMA6D_uc001zwc.2_Missense_Mutation_p.R922C	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	997	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		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)		TAGTATGAACCGTGGAGGATA	0.473													T	48063749	C	T	48063749	3	4	283	1	0	0	0	0	1	0	0	0	14042	652	23	1	3102	1	SEMA6D	15	48063749	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3055924	48063749	54467643	1029	146311											
FBN1	2200	broad.mit.edu	37	chr15	48888508	48888508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggggtccagtaaatccGtaagtgcatgcacatcgatt	10	10	0	0	rs111671429	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:48888508G>A	uc001zwx.1	-	6	838	c.510C>T	c.(508-510)TAC>TAT	p.Y170Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	170	EGF-like 3.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTAAATCCGTAAGTGCATG	0.423													A	48888508	G	A	48888508	2	1	283	1	0	0	0	0	0	0	0	1	5702	1140	40	1		1	FBN1	15	48888508	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	824759	48888508	53642884	1030	146312											
SLC27A2	11001	broad.mit.edu	37	chr15	50515313	50515313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggatttatgaattatgCgagaaaagttggtgctgttg	12	2	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:50515313C>T	uc001zxw.2	+	5	1356	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	SLC27A2_uc010bes.2_Missense_Mutation_p.A322V|SLC27A2_uc001zxx.2_Missense_Mutation_p.A140V	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	375	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGAATTATGCGAGAAAAGTT	0.393													T	50515313	C	T	50515313	3	4	283	1	0	0	0	0	1	0	0	0	14526	768	27	1	1142	1	SLC27A2	15	50515313	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1626805	50515313	52016079	1031	146313											
USP8	9101	broad.mit.edu	37	chr15	50782631	50782631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaccttccaaactgaagCgctcctactcctccccagat	7	16	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:50782631C>T	uc001zym.3	+	15	2643	c.2143C>T	c.(2143-2145)CGC>TGC	p.R715C	USP8_uc001zyl.3_Missense_Mutation_p.R715C|USP8_uc001zyn.3_Missense_Mutation_p.R715C|USP8_uc010ufh.1_Missense_Mutation_p.R609C|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	715					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			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAAACTGAAGCGCTCCTACTC	0.488													T	50782631	C	T	50782631	3	4	283	1	0	0	0	0	1	0	0	0	17086	768	27	1	2193	1	USP8	15	50782631	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	267318	50782631	51748761	1032	146314											
AP4E1	23431	broad.mit.edu	37	chr15	51291352	51291352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatagtgtgcagatagaaaaAccttttacagaaggaaatct	8	5	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:51291352A>C	uc001zyx.1	+	19	3018	c.2988A>C	c.(2986-2988)AAA>AAC	p.K996N	AP4E1_uc010bex.1_Intron	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	996					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGATAGAAAAACCTTTTACAG	0.353													C	51291352	A	C	51291352	3	2	283	1	0	0	0	0	1	0	0	0	752	40	2	5	3062	5	AP4E1	15	51291352	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	508721	51291352	51240040	1033	146315											
TMOD2	29767	broad.mit.edu	37	chr15	52058642	52058642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcttataagaagccatgGcactcccctttcaaaaagag	8	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:52058642G>A	uc002abk.2	+	2	225	c.4G>A	c.(4-6)GCA>ACA	p.A2T	TMOD2_uc002abl.3_Missense_Mutation_p.A2T|TMOD2_uc010bfb.2_5'UTR	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	2					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		AGAAGCCATGGCACTCCCCTT	0.378													A	52058642	G	A	52058642	3	1	283	1	0	0	0	0	1	0	0	0	16231	1203	42	2	6	2	TMOD2	15	52058642	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	767290	52058642	50472750	1034	146316											
GNB5	10681	broad.mit.edu	37	chr15	52416738	52416738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaactcgtagagtgctaaCgcggttttcatgtccaaaca	10	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:52416738C>T	uc002abt.1	-	12	1173	c.1108G>A	c.(1108-1110)GTT>ATT	p.V370I	GNB5_uc002abr.1_Missense_Mutation_p.V328I|GNB5_uc002abs.1_Missense_Mutation_p.V258I	NM_016194	NP_057278	O14775	GBB5_HUMAN	guanine nucleotide-binding protein, beta-5	370	WD 7.					heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)	1				all cancers(107;0.0163)		AGAGTGCTAACGCGGTTTTCA	0.498													T	52416738	C	T	52416738	3	4	283	1	0	0	0	0	1	0	0	0	6521	536	19	1	87	1	GNB5	15	52416738	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	358096	52416738	50114654	1035	146317											
VPS13C	54832	broad.mit.edu	37	chr15	62182509	62182509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaaccaaggcaacatcatCggtgaaaagcaaaactctct	8	10	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:62182509C>T	uc002agz.2	-	67	9270	c.9196G>A	c.(9196-9198)GAT>AAT	p.D3066N	VPS13C_uc002aha.2_Missense_Mutation_p.D3023N|VPS13C_uc002ahb.1_Missense_Mutation_p.D3066N|VPS13C_uc002ahc.1_Missense_Mutation_p.D3023N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3066					protein localization					ovary(2)	2						GCAACATCATCGGTGAAAAGC	0.458													T	62182509	C	T	62182509	3	4	283	1	0	0	0	0	1	0	0	0	17188	884	31	1	2169	1	VPS13C	15	62182509	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	9765771	62182509	40348883	1036	146318											
RBPMS2	348093	broad.mit.edu	37	chr15	65041646	65041646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgttcagcgcattcttgGccgcttctgctcctgcacgg	10	15	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:65041646G>A	uc002anq.2	-	4	503	c.251C>T	c.(250-252)GCC>GTC	p.A84V		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	84	RRM.						nucleic acid binding|nucleotide binding				0						CGCATTCTTGGCCGCTTCTGC	0.507													A	65041646	G	A	65041646	3	1	283	1	0	0	0	0	1	0	0	0	13164	1203	42	2	394	2	RBPMS2	15	65041646	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2859137	65041646	37489746	1037	146319											
CILP	8483	broad.mit.edu	37	chr15	65490415	65490415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaaagagcctcctctcacGaatctccaggttgcccacca	7	15	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:65490415G>A	uc002aon.2	-	9	2390	c.2209C>T	c.(2209-2211)CGT>TGT	p.R737C		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	737					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						CTCCTCTCACGAATCTCCAGG	0.498													A	65490415	G	A	65490415	3	1	283	1	0	0	0	0	1	0	0	0	3429	1058	37	1	1349	1	CILP	15	65490415	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	448769	65490415	37040977	1038	146320											
DENND4A	10260	broad.mit.edu	37	chr15	65994675	65994675	+	Frame_Shift_Del	DEL	T	T	-													atccatcttctttgactgcaTttttttaagcacatcatatg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:65994675delT	uc002aph.2	-	17	2776	c.2398delA	c.(2398-2400)ATGfs	p.M800fs	DENND4A_uc002api.2_Frame_Shift_Del_p.M800fs|DENND4A_uc002apj.3_Frame_Shift_Del_p.M800fs	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	800	PPR 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TTTGACTGCATTTTTTTAAGC	0.279													-	65994675	T	-	65994675	7	5	283	1	0	1	0	1	0	0	0	0	4433	1493	52	0	3390	0	DENND4A	15	65994675	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	504260	65994675	36536717	1039	146321											
LBXCOR1	390598	broad.mit.edu	37	chr15	68120209	68120209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaggagaccgagcccagCgcacccagcgcagggggcgg	17	14	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:68120209C>T	uc002aqy.1	+	3	1911	c.1911C>T	c.(1909-1911)AGC>AGT	p.S637S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	681					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						CCGAGCCCAGCGCACCCAGCG	0.701													T	68120209	C	T	68120209	2	4	283	1	0	0	0	0	0	0	0	1	8655	767	27	1		1	LBXCOR1	15	68120209	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2125534	68120209	34411183	1040	146322											
NOX5	79400	broad.mit.edu	37	chr15	69331226	69331226	+	Frame_Shift_Del	DEL	T	T	-													ctcctcatcaagcggcccccTttttttcactatagacctgg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:69331225_69331225CT>C	uc002ars.2	+	8	1441	c.1400_1400CT>C	c.(1399-1401)cctfs	p.P467fs	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				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	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|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						AAGCGGCCCCCTTTTTTTCAC	0.542													-	69331226	T	-	69331226	7	5	283	1	0	1	0	1	0	0	0	0	10559	1596	56	0	1468	0	NOX5	15	69331226	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	1211017	69331226	33200166	1041	146323											
UACA	55075	broad.mit.edu	37	chr15	70959701	70959701	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggaacatgttgtttttGcaaaagattttgcactgcaa	8	6	0	1	rs143154561		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:70959701G>A	uc002asr.2	-	16	3426	c.3322C>T	c.(3322-3324)CAA>TAA	p.Q1108*	UACA_uc010uke.1_Nonsense_Mutation_p.Q999*|UACA_uc002asq.2_Nonsense_Mutation_p.Q1095*|UACA_uc010bin.1_Nonsense_Mutation_p.Q1083*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1108	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TGTTGTTTTTGCAAAAGATTT	0.368													A	70959701	G	A	70959701	4	1	283	1	0	0	0	0	0	1	0	0	16821	1328	46	2	944	2	UACA	15	70959701	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1628475	70959701	31571691	1042	146324											
THSD4	79875	broad.mit.edu	37	chr15	72023519	72023519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgatcatggggaccaaCgccatcagcccccaggtgcc	11	15	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:72023519C>T	uc002atb.1	+	9	1672	c.1593C>T	c.(1591-1593)AAC>AAT	p.N531N	THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Silent_p.N171N|THSD4_uc002ate.2_Silent_p.N171N	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	531						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TGGGGACCAACGCCATCAGCC	0.547											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72023519	C	T	72023519	2	4	283	1	0	0	0	0	0	0	0	1	15875	535	19	1		1	THSD4	15	72023519	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1063818	72023519	30507873	1043	146325											
THSD4	79875	broad.mit.edu	37	chr15	72030245	72030245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattttctccccatcgacCggacaacttggtgccaccag	8	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:72030245C>T	uc002atb.1	+	10	1884	c.1805C>T	c.(1804-1806)CCG>CTG	p.P602L	THSD4_uc010ukg.1_Missense_Mutation_p.P242L|THSD4_uc002ate.2_Missense_Mutation_p.P242L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	602						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CCCCATCGACCGGACAACTTG	0.587													T	72030245	C	T	72030245	3	4	283	1	0	0	0	0	1	0	0	0	15875	652	23	1	1843	1	THSD4	15	72030245	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6726	72030245	30501147	1044	146326											
NPTN	27020	broad.mit.edu	37	chr15	73889561	73889561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacggcgcttccgagcacCgtcccacagctgtctgaaag	11	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:73889561C>A	uc002avs.2	-	2	438	c.241G>T	c.(241-243)GGT>TGT	p.G81C	NPTN_uc010bjc.2_Missense_Mutation_p.G81C|NPTN_uc002avt.2_Intron|NPTN_uc002avr.2_Intron|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	81	Ig-like 1.|Extracellular (Potential).				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				0						TTCCGAGCACCGTCCCACAGC	0.592													A	73889561	C	A	73889561	3	1	283	1	0	0	0	0	1	0	0	0	10601	652	23	5	983	5	NPTN	15	73889561	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1859316	73889561	28641831	1045	146327											
CSK	1445	broad.mit.edu	37	chr15	75093411	75093411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgtggaggagaagggcGggctctacatcgtcactgag	16	8	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:75093411G>A	uc010bkb.1	+	10	964	c.781G>A	c.(781-783)GGG>AGG	p.G261R	CSK_uc002ays.2_Missense_Mutation_p.G261R|CSK_uc010bkc.1_Missense_Mutation_p.G70R	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	261	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			lung(2)|central_nervous_system(1)	3						GGAGAAGGGCGGGCTCTACAT	0.637													A	75093411	G	A	75093411	3	1	283	1	0	0	0	0	1	0	0	0	3943	1116	39	1	811	1	CSK	15	75093411	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1203850	75093411	27437981	1046	146328											
IREB2	3658	broad.mit.edu	37	chr15	78777134	78777134	+	Frame_Shift_Del	DEL	A	A	-													aggcttccaaattgcagctgAaaaacaaaaggatattgtct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:78777134delA	uc002bdr.2	+	12	1607	c.1445delA	c.(1444-1446)GAAfs	p.E482fs	IREB2_uc010unb.1_Frame_Shift_Del_p.E232fs	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333													-	78777134	A	-	78777134	7	5	283	1	0	1	0	1	0	0	0	0	7826	246	9	0	1491	0	IREB2	15	78777134	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	3683723	78777134	23754258	1047	146329											
ADAMTS7	11173	broad.mit.edu	37	chr15	79057995	79057995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacttgcctcgctccAgtttcccgcttgccagccgg	8	19	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:79057995A>G	uc002bej.3	-	19	4469	c.4258T>C	c.(4258-4260)TGG>CGG	p.W1420R	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1420	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GCCTCGCTCCAGTTTCCCGCT	0.652													G	79057995	A	G	79057995	3	3	283	1	0	0	0	0	1	0	0	0	271	188	7	3	826	3	ADAMTS7	15	79057995	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	280861	79057995	23473397	1048	146330											
ADAMTS7	11173	broad.mit.edu	37	chr15	79092648	79092648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcgcgcggcccaggccGccgcgccgccgcgtctcgct	15	19	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:79092648G>A	uc002bej.3	-	2	553	c.342C>T	c.(340-342)GGC>GGT	p.G114G	ADAMTS7_uc010und.1_Silent_p.G114G|ADAMTS7_uc002bek.1_Silent_p.G114G	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	114					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						ggcccaggccgccgcgccgcc	0.577													A	79092648	G	A	79092648	2	1	283	1	0	0	0	0	0	0	0	1	271	1074	38	1		1	ADAMTS7	15	79092648	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	34653	79092648	23438744	1049	146331											
KIAA1024	23251	broad.mit.edu	37	chr15	79750690	79750690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcgcccagagactggcGcaccatcacttataccaacc	6	17	1	1	rs140205068	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:79750690G>A	uc002bew.1	+	2	2276	c.2201G>A	c.(2200-2202)CGC>CAC	p.R734H	KIAA1024_uc010unk.1_Missense_Mutation_p.R734H	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	734						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						AGAGACTGGCGCACCATCACT	0.502													A	79750690	G	A	79750690	3	1	283	1	0	0	0	0	1	0	0	0	8205	1087	38	1	2203	1	KIAA1024	15	79750690	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	658042	79750690	22780702	1050	146332											
MEX3B	84206	broad.mit.edu	37	chr15	82335714	82335714	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgaagagctggaggaGgagctggacgaagaggagga	21	3	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:82335714G>T	uc002bgq.1	-	2	1812	c.1497C>A	c.(1495-1497)TCC>TCA	p.S499S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	499					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						agctggaggaggagctggacg	0.517													T	82335714	G	T	82335714	2	4	283	1	0	0	0	0	0	0	0	1	9510	987	35	5		5	MEX3B	15	82335714	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2585024	82335714	20195678	1051	146333											
ABHD2	11057	broad.mit.edu	37	chr15	89698699	89698699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaatggctatcggtgcGccgtgctgaaccacctgggt	13	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:89698699G>A	uc002bnj.2	+	10	1389	c.472G>A	c.(472-474)GCC>ACC	p.A158T	ABHD2_uc002bnk.2_Missense_Mutation_p.A158T	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	158						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTATCGGTGCGCCGTGCTGAA	0.517													A	89698699	G	A	89698699	3	1	283	1	0	0	0	0	1	0	0	0	82	1087	38	1	482	1	ABHD2	15	89698699	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7362985	89698699	12832693	1052	146334											
FANCI	55215	broad.mit.edu	37	chr15	89801983	89801983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggaaaagttgctggaGcactcctgagagccatcttc	11	9	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:89801983G>A	uc010bnp.1	+	3	223	c.133G>A	c.(133-135)GCA>ACA	p.A45T	FANCI_uc002bnm.1_Missense_Mutation_p.A45T|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Missense_Mutation_p.A45T	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	45					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGTTGCTGGAGCACTCCTGAG	0.378								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				A	89801983	G	A	89801983	3	1	283	1	0	0	0	0	1	0	0	0	5669	971	34	2	139	2	FANCI	15	89801983	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	103284	89801983	12729409	1053	146335											
IGF1R	3480	broad.mit.edu	37	chr15	99482585	99482585	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagatttcacagtcaaaatCggaggtgtgtccttagcttt	10	7	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr15:99482585C>T	uc002bul.2	+	18	3503	c.3453C>T	c.(3451-3453)ATC>ATT	p.I1151I	IGF1R_uc010bon.2_Silent_p.I1150I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1151	Protein kinase.|Cytoplasmic (Potential).				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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	CAGTCAAAATCGGAGGTGTGT	0.493													T	99482585	C	T	99482585	2	4	283	1	0	0	0	0	0	0	0	1	7571	874	31	1		1	IGF1R	15	99482585	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	9680602	99482585	3048807	1054	146336											
WDR90	197335	broad.mit.edu	37	chr16	712018	712018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgggacacgcgtgccgGccgctgcttcttgtcctggg	15	13	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:712018G>A	uc002cii.1	+	32	4046	c.3992G>A	c.(3991-3993)GGC>GAC	p.G1331D	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.G858D|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.G505D|WDR90_uc002cin.1_5'UTR|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1331	WD 16.									ovary(1)	1		Hepatocellular(780;0.0218)				ACGCGTGCCGGCCGCTGCTTC	0.662													A	712018	G	A	712018	3	1	283	1	0	0	0	0	1	0	0	0	17334	1203	42	2	4118	2	WDR90	16	712018	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08		712018	89642735	1055	146337											
C1QTNF8	390664	broad.mit.edu	37	chr16	1143669	1143669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcatgacgctgcgctcGctgggctgcgcgtagagcac	15	14	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:1143669G>A	uc010uuw.1	-	4	865	c.591C>T	c.(589-591)AGC>AGT	p.S197S		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	197	C1q.					collagen				skin(1)	1		Hepatocellular(780;0.00369)				CGCTGCGCTCGCTGGGCTGCG	0.667													A	1143669	G	A	1143669	2	1	283	1	0	0	0	0	0	0	0	1	1969	1078	38	1		1	C1QTNF8	16	1143669	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	431651	1143669	89211084	1056	146338											
CLCN7	1186	broad.mit.edu	37	chr16	1500643	1500643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagaccagcgtgaacaggCcgagggtcagggggttgtag	18	7	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:1500643C>T	uc002clv.2	-	17	1582	c.1472G>A	c.(1471-1473)GGC>GAC	p.G491D	CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Missense_Mutation_p.G467D	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	491	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				CGTGAACAGGCCGAGGGTCAG	0.677													T	1500643	C	T	1500643	3	4	283	1	0	0	0	0	1	0	0	0	3468	739	26	2	981	2	CLCN7	16	1500643	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	356974	1500643	88854110	1057	146339											
CRAMP1L	57585	broad.mit.edu	37	chr16	1710001	1710001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgcagcccccgctgccctCggaaccaggcctccctccgc	9	23	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:1710001C>T	uc010uvh.1	+	10	2350	c.2350C>T	c.(2350-2352)CGG>TGG	p.R784W	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	784						nucleus	DNA binding				0						CCGCTGCCCTCGGAACCAGGC	0.672													T	1710001	C	T	1710001	3	4	283	1	0	0	0	0	1	0	0	0	3846	875	31	1	2388	1	CRAMP1L	16	1710001	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	209358	1710001	88644752	1058	146340											
RPL3L	6123	broad.mit.edu	37	chr16	2004022	2004022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtagcccaggaaggccGtgaggtgcacgggctggctg	17	11	0	1	rs148367011		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2004022G>A	uc002cnh.2	-	2	178	c.131C>T	c.(130-132)ACG>ATG	p.T44M		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	44					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0						CAGGAAGGCCGTGAGGTGCAC	0.697													A	2004022	G	A	2004022	3	1	283	1	0	0	0	0	1	0	0	0	13594	1145	40	1	1128	1	RPL3L	16	2004022	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	294021	2004022	88350731	1059	146341											
PKD1	5310	broad.mit.edu	37	chr16	2142541	2142541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggctggactggttccCgtggacgtagggcagcagca	16	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2142541C>A	uc002cos.1	-	39	11418	c.11209G>T	c.(11209-11211)GGG>TGG	p.G3737W	PKD1_uc002cot.1_Missense_Mutation_p.G3736W|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3737	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GACTGGTTCCCGTGGACGTAG	0.667													A	2142541	C	A	2142541	3	1	283	1	0	0	0	0	1	0	0	0	11963	652	23	5	1734	5	PKD1	16	2142541	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	138519	2142541	88212212	1060	146342											
PKD1	5310	broad.mit.edu	37	chr16	2153317	2153317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcccggccgcagggttgCtgctgtccagggtgaccaca	15	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2153317C>T	uc002cos.1	-	23	8950	c.8741G>A	c.(8740-8742)AGC>AAC	p.S2914N	PKD1_uc002cot.1_Missense_Mutation_p.S2914N|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2914	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CGCAGGGTTGCTGCTGTCCAG	0.701													T	2153317	C	T	2153317	3	4	283	1	0	0	0	0	1	0	0	0	11963	797	28	2	4266	2	PKD1	16	2153317	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10776	2153317	88201436	1061	146343											
PRSS27	83886	broad.mit.edu	37	chr16	2763683	2763683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtttctgcaggatccgCggttcgggcaggaggtctgg	18	9	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:2763683C>T	uc002crf.2	-	5	916	c.525G>A	c.(523-525)CCG>CCA	p.P175P	PRSS27_uc002cre.2_Silent_p.P139P|PRSS27_uc002crg.2_Silent_p.P73P|PRSS27_uc010bst.1_Silent_p.P73P	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	marapsin precursor	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GCAGGATCCGCGGTTCGGGCA	0.597													T	2763683	C	T	2763683	2	4	283	1	0	0	0	0	0	0	0	1	12621	755	27	1		1	PRSS27	16	2763683	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	610366	2763683	87591070	1062	146344											
ZNF205	7755	broad.mit.edu	37	chr16	3170056	3170056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgttccaacctcatcgcGcacaaccgcacacacacagg	7	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:3170056G>A	uc002cub.2	+	7	1530	c.1395G>A	c.(1393-1395)GCG>GCA	p.A465A	ZNF205_uc002cua.2_Silent_p.A465A	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	465	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ACCTCATCGCGCACAACCGCA	0.662													A	3170056	G	A	3170056	2	1	283	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZNF205	16	3170056	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	406373	3170056	87184697	1063	146345											
TFAP4	7023	broad.mit.edu	37	chr16	4308231	4308231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgcttttcctgggtgCcctcgatgtgctggattgcc	12	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4308231C>T	uc010uxg.1	-	7	1096	c.842G>A	c.(841-843)GGC>GAC	p.G281D		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	281					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						TTCCTGGGTGCCCTCGATGTG	0.662													T	4308231	C	T	4308231	3	4	283	1	0	0	0	0	1	0	0	0	15789	739	26	2	178	2	TFAP4	16	4308231	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1138175	4308231	86046522	1064	146346											
ANKS3	124401	broad.mit.edu	37	chr16	4749151	4749151	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggtacttcagacacccGatctgctccagcagtgcggc	11	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4749151G>A	uc002cxj.1	-	12	1606	c.1311C>T	c.(1309-1311)ATC>ATT	p.I437I	ANKS3_uc010uxr.1_5'UTR|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Silent_p.I364I|ANKS3_uc002cxk.2_Silent_p.I308I|ANKS3_uc002cxl.2_Silent_p.I264I|ANKS3_uc010uxs.1_Silent_p.I364I	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain	437	SAM.										0						TCAGACACCCGATCTGCTCCA	0.587													A	4749151	G	A	4749151	2	1	283	1	0	0	0	0	0	0	0	1	690	1048	37	1		1	ANKS3	16	4749151	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	440920	4749151	85605602	1065	146347											
GLYR1	84656	broad.mit.edu	37	chr16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C													cgggggcttccagaaagcgcINSccccccctggacacaatcac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574													C	4862230	-	C	4862229	7	5	283	1	0	1	1	0	0	0	0	0	6483	726	26	0	537	0	GLYR1	16	4862229	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	113078	4862229	85492524	1066	146348											
PPL	5493	broad.mit.edu	37	chr16	4949045	4949045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccggggtgctcggccGccagcagctggtcgccctcg	14	18	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:4949045G>A	uc002cyd.1	-	8	935	c.845C>T	c.(844-846)GCG>GTG	p.A282V		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	282	Potential.|Spectrin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GTGCTCGGCCGCCAGCAGCTG	0.642													A	4949045	G	A	4949045	3	1	283	1	0	0	0	0	1	0	0	0	12334	1087	38	1	4485	1	PPL	16	4949045	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	86816	4949045	85405708	1067	146349											
SEC14L5	9717	broad.mit.edu	37	chr16	5046950	5046950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccagtccttgagctggcGcaagcagcaccaggtggatc	14	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:5046950G>A	uc002cye.2	+	8	1055	c.875G>A	c.(874-876)CGC>CAC	p.R292H		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	292						integral to membrane|intracellular	transporter activity				0						TTGAGCTGGCGCAAGCAGCAC	0.597													A	5046950	G	A	5046950	3	1	283	1	0	0	0	0	1	0	0	0	13985	1087	38	1	901	1	SEC14L5	16	5046950	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	97905	5046950	85307803	1068	146350											
C16orf68	79091	broad.mit.edu	37	chr16	8722946	8722946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggaagcacaaggcagcCcgcacgatatcatcagaata	11	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:8722946C>A	uc002cyz.2	+	3	769	c.493C>A	c.(493-495)CCG>ACG	p.P165T	C16orf68_uc002cza.2_Missense_Mutation_p.P109T	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	165							methyltransferase activity				0						ACAAGGCAGCCCGCACGATAT	0.532													A	8722946	C	A	8722946	3	1	283	1	0	0	0	0	1	0	0	0	1827	623	22	5	499	5	C16orf68	16	8722946	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3675996	8722946	81631807	1069	146351											
GRIN2A	2903	broad.mit.edu	37	chr16	9857479	9857479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggcttatgctccgggAgggcctgctaaggtctagct	14	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:9857479A>G	uc002czo.3	-	13	4470	c.3922T>C	c.(3922-3924)TCC>CCC	p.S1308P	GRIN2A_uc010uym.1_Missense_Mutation_p.S1308P|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1308	Cytoplasmic (Potential).				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.S1308S(1)		skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCTCCGGGAGGGCCTGCTA	0.488													G	9857479	A	G	9857479	3	3	283	1	0	0	0	0	1	0	0	0	6779	304	11	3	476	3	GRIN2A	16	9857479	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1134533	9857479	80497274	1070	146352											
TEKT5	146279	broad.mit.edu	37	chr16	10721460	10721460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtggcccaccaggcGcggggtgcaggggaaggtct	19	10	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:10721460G>A	uc002czz.1	-	7	1510	c.1438C>T	c.(1438-1440)CGC>TGC	p.R480C		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	480					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						CCCACCAGGCGCGGGGTGCAG	0.572													A	10721460	G	A	10721460	3	1	283	1	0	0	0	0	1	0	0	0	15753	1087	38	1	23	1	TEKT5	16	10721460	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	863981	10721460	79633293	1071	146353											
ZC3H7A	29066	broad.mit.edu	37	chr16	11858938	11858938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaactcatgctttgtaacCgggtgagaacaagcagtaga	10	8	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:11858938C>T	uc002dbk.2	-	14	1989	c.1791G>A	c.(1789-1791)CCG>CCA	p.P597P	ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.P597P|ZC3H7A_uc002dbm.1_Silent_p.P507P	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	597						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						GCTTTGTAACCGGGTGAGAAC	0.284													T	11858938	C	T	11858938	2	4	283	1	0	0	0	0	0	0	0	1	17569	639	23	1		1	ZC3H7A	16	11858938	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1137478	11858938	78495815	1072	146354											
PDXDC1	23042	broad.mit.edu	37	chr16	15122809	15122809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaggcactcgtgtgacGcgctgaatcgctgggtgaga	18	8	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:15122809G>A	uc002dda.3	+	15	1503	c.1279G>A	c.(1279-1281)GCG>ACG	p.A427T	PDXDC1_uc010uzl.1_Missense_Mutation_p.A412T|PDXDC1_uc010uzm.1_Missense_Mutation_p.A336T|PDXDC1_uc002dcz.2_Missense_Mutation_p.A404T|PDXDC1_uc002ddb.3_Missense_Mutation_p.A400T|PDXDC1_uc010uzn.1_Missense_Mutation_p.A399T|PDXDC1_uc002ddc.2_Missense_Mutation_p.A427T	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	427					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CTCGTGTGACGCGCTGAATCG	0.587													A	15122809	G	A	15122809	3	1	283	1	0	0	0	0	1	0	0	0	11696	1087	38	1	1337	1	PDXDC1	16	15122809	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3263871	15122809	75231944	1073	146355											
NDE1	54820	broad.mit.edu	37	chr16	15788046	15788046	+	Frame_Shift_Del	DEL	C	C	-													ggacgactccaccggggggaCccccctcacacctgcggccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:15788046delC	uc002ddt.1	+	6	771	c.728delC	c.(727-729)ACCfs	p.T243fs	NDE1_uc010uzy.1_Frame_Shift_Del_p.T243fs|NDE1_uc002dds.2_Frame_Shift_Del_p.T243fs|NDE1_uc002ddu.1_Frame_Shift_Del_p.T180fs	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	243	Interaction with CENPF (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			ovary(1)	1						ACCGGGGGGACCCCCCTCACA	0.562													-	15788046	C	-	15788046	7	5	283	1	0	1	0	1	0	0	0	0	10243	507	18	0	750	0	NDE1	16	15788046	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	665237	15788046	74566707	1074	146356											
ABCC1	4363	broad.mit.edu	37	chr16	16162051	16162051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtctacgtgaccattgaCgagaacaacatcctggatgc	10	12	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:16162051C>T	uc010bvi.2	+	13	1891	c.1716C>T	c.(1714-1716)GAC>GAT	p.D572D	ABCC1_uc010bvj.2_Silent_p.D572D|ABCC1_uc010bvk.2_Silent_p.D572D|ABCC1_uc010bvl.2_Silent_p.D572D|ABCC1_uc010bvm.2_Silent_p.D572D|ABCC1_uc002del.3_Silent_p.D456D	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	572	ABC transmembrane type-1 1.|Extracellular.				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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGACCATTGACGAGAACAACA	0.552													T	16162051	C	T	16162051	2	4	283	1	0	0	0	0	0	0	0	1	49	535	19	1		1	ABCC1	16	16162051	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	374005	16162051	74192702	1075	146357											
GP2	2813	broad.mit.edu	37	chr16	20335195	20335195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccggtacacatggtaccCgcctgggcaggccttcacca	10	16	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:20335195C>T	uc002dgv.2	-	3	561	c.478G>A	c.(478-480)GGG>AGG	p.G160R	GP2_uc002dgw.2_Missense_Mutation_p.G160R|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	160						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						ACATGGTACCCGCCTGGGCAG	0.577													T	20335195	C	T	20335195	3	4	283	1	0	0	0	0	1	0	0	0	6582	652	23	1	1175	1	GP2	16	20335195	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	4173144	20335195	70019558	1076	146358											
DNAH3	55567	broad.mit.edu	37	chr16	21053366	21053366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttgagattgtcgggcaGttcagccctgccagcatacc	10	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:21053366G>A	uc010vbe.1	-	32	4621	c.4621C>T	c.(4621-4623)CTG>TTG	p.L1541L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1541	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGTCGGGCAGTTCAGCCCTG	0.418													A	21053366	G	A	21053366	2	1	283	1	0	0	0	0	0	0	0	1	4603	1020	36	4		4	DNAH3	16	21053366	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	718171	21053366	69301387	1077	146359											
ERN2	10595	broad.mit.edu	37	chr16	23703620	23703620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcacgtagtagaacacGcagcctgcagagaagatgtc	12	9	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:23703620G>A	uc002dma.3	-	18	2446	c.2277C>T	c.(2275-2277)TGC>TGT	p.C759C	ERN2_uc010bxp.2_Silent_p.C707C	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	711	Protein kinase.|Cytoplasmic (Potential).				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)		AGTAGAACACGCAGCCTGCAG	0.557													A	23703620	G	A	23703620	2	1	283	1	0	0	0	0	0	0	0	1	5238	1079	38	1		1	ERN2	16	23703620	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2650254	23703620	66651133	1078	146360											
TNRC6A	27327	broad.mit.edu	37	chr16	24788376	24788381	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-													cagccaacaatcagcagccaCagcagcagcagcaacagcag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:24788375_24788380ACAGCAG>A	uc002dmm.3	+	4	399_404	c.285_290ACAGCAG>A	c.(283-291)ccacagcag>ccAg	p.QQ102del	TNRC6A_uc010bxs.3_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	102	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide 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)		ATcagcagccacagcagcagcagcaa	0.597													-	24788381	CAGCAG	-	24788376	7	5	283	1	0	1	0	1	0	0	0	0	16337	479	17	0	304	0	TNRC6A	16	24788376	In_Frame_Del	DEL	CAGCAG	TCGA-HU-A4H8-01A-11D-A25D-08	1084756	24788376	65566377	1079	146361											
C16orf82	162083	broad.mit.edu	37	chr16	27078694	27078694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagtaaccaaaccagccaGctgggctccatagaccctcc	8	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:27078694G>T	uc010vcm.1	+	1	476	c.378G>T	c.(376-378)CAG>CAT	p.Q126H		NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN	hypothetical protein LOC162083	189											0						AAACCAGCCAGCTGGGCTCCA	0.642													T	27078694	G	T	27078694	3	4	283	1	0	0	0	0	1	0	0	0	1838	962	34	5	380	5	C16orf82	16	27078694	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2290318	27078694	63276059	1080	146362											
SBK1	388228	broad.mit.edu	37	chr16	28328881	28328881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcactacgaactagtcCgggagctgggcaaaggcacc	12	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:28328881C>T	uc002dpd.2	+	2	958	c.169C>T	c.(169-171)CGG>TGG	p.R57W		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	57	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						CGAACTAGTCCGGGAGCTGGG	0.627											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28328881	C	T	28328881	3	4	283	1	0	0	0	0	1	0	0	0	13860	643	23	1	171	1	SBK1	16	28328881	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1250187	28328881	62025872	1081	146363											
SBK1	388228	broad.mit.edu	37	chr16	28331811	28331811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggctgccttcgcagtggCgccgcttcaccgagcccgcg	15	17	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:28331811C>T	uc002dpd.2	+	4	1633	c.844C>T	c.(844-846)CGC>TGC	p.R282C		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	282	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						TTCGCAGTGGCGCCGCTTCAC	0.726													T	28331811	C	T	28331811	3	4	283	1	0	0	0	0	1	0	0	0	13860	768	27	1	854	1	SBK1	16	28331811	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2930	28331811	62022942	1082	146364											
ATP2A1	487	broad.mit.edu	37	chr16	28898806	28898806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccactggtgtgggcaccGagattgggaagatccgagac	14	11	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:28898806G>A	uc002dro.1	+	8	875	c.691G>A	c.(691-693)GAG>AAG	p.E231K	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E231K|ATP2A1_uc002drp.1_Missense_Mutation_p.E106K|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	231	Cytoplasmic (By similarity).				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|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGTGGGCACCGAGATTGGGAA	0.587													A	28898806	G	A	28898806	3	1	283	1	0	0	0	0	1	0	0	0	1136	1059	37	1	721	1	ATP2A1	16	28898806	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	566995	28898806	61455947	1083	146365											
ZNF768	79724	broad.mit.edu	37	chr16	30535842	30535842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggggccccaggtcagCgccggcccgccgcgtgggtc	17	17	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:30535842C>T	uc002dyk.3	-	2	1795	c.1619G>A	c.(1618-1620)CGC>CAC	p.R540H	ZNF768_uc010vex.1_Missense_Mutation_p.R509H|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R509H	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	540					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CCCAGGTCAGCGCCGGCCCGC	0.662													T	30535842	C	T	30535842	3	4	283	1	0	0	0	0	1	0	0	0	18138	768	27	1	7	1	ZNF768	16	30535842	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1637036	30535842	59818911	1084	146366											
ZNF764	92595	broad.mit.edu	37	chr16	30566768	30566768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatctccgagctctggCggaagcagcgcccgcagtcc	12	17	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:30566768C>T	uc002dyq.2	-	3	1055	c.974G>A	c.(973-975)CGC>CAC	p.R325H	ZNF764_uc002dyr.1_Missense_Mutation_p.R324H	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	325	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGAGCTCTGGCGGAAGCAGCG	0.731													T	30566768	C	T	30566768	3	4	283	1	0	0	0	0	1	0	0	0	18135	768	27	1	256	1	ZNF764	16	30566768	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	30926	30566768	59787985	1085	146367											
SRCAP	10847	broad.mit.edu	37	chr16	30732093	30732093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtgaacaacccacGggcgcccctgggccctgtcc	15	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:30732093G>A	uc002dze.1	+	20	3432	c.3047G>A	c.(3046-3048)CGG>CAG	p.R1016Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R873Q|SRCAP_uc010bzz.1_Missense_Mutation_p.R586Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1016	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			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AACAACCCACGGGCGCCCCTG	0.612													A	30732093	G	A	30732093	3	1	283	1	0	0	0	0	1	0	0	0	15134	1116	39	1	3117	1	SRCAP	16	30732093	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	165325	30732093	59622660	1086	146368											
STX4	6810	broad.mit.edu	37	chr16	31050934	31050934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacgtgggcaggagcacGtcaagacggccctggagaac	16	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31050934G>A	uc002eal.2	+	9	999	c.775G>A	c.(775-777)GTC>ATC	p.V259I	STX4_uc002eak.2_Missense_Mutation_p.V257I|STX4_uc002eam.2_Missense_Mutation_p.V181I|uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	259	Cytoplasmic (Potential).|Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				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				0						GCAGGAGCACGTCAAGACGGC	0.617													A	31050934	G	A	31050934	3	1	283	1	0	0	0	0	1	0	0	0	15346	1145	40	1	809	1	STX4	16	31050934	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	318841	31050934	59303819	1087	146369											
PRSS8	5652	broad.mit.edu	37	chr16	31143904	31143904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgcagtggcttgggcGtcaggaggctcactgtgggg	19	8	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31143904G>A	uc002ebc.3	-	5	883	c.551C>T	c.(550-552)ACG>ATG	p.T184M	PRSS8_uc010vfe.1_Missense_Mutation_p.T130M	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	184	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						TGGCTTGGGCGTCAGGAGGCT	0.612													A	31143904	G	A	31143904	3	1	283	1	0	0	0	0	1	0	0	0	12635	1145	40	1	488	1	PRSS8	16	31143904	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	92970	31143904	59210849	1088	146370											
PRSS8	5652	broad.mit.edu	37	chr16	31144063	31144063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccgttggggaaggaggCgttggctgcagggaggcaga	22	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31144063C>T	uc002ebc.3	-	4	810	c.478G>A	c.(478-480)GCC>ACC	p.A160T	PRSS8_uc010vfe.1_Missense_Mutation_p.A106T	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	160	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						GGGAAGGAGGCGTTGGCTGCA	0.657													T	31144063	C	T	31144063	3	4	283	1	0	0	0	0	1	0	0	0	12635	768	27	1	565	1	PRSS8	16	31144063	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	159	31144063	59210690	1089	146371											
ITGAD	3681	broad.mit.edu	37	chr16	31422111	31422111	+	Frame_Shift_Del	DEL	C	C	-													acagaacctggtcctgggggCcccccgctaccagcataccg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:31422111delC	uc002ebv.1	+	12	1317	c.1268delC	c.(1267-1269)GCCfs	p.A423fs	ITGAD_uc010cap.1_Frame_Shift_Del_p.A423fs	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	423	FG-GAP 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GTCCTGGGGGCCCCCCGCTAC	0.647													-	31422111	C	-	31422111	7	5	283	1	0	1	0	1	0	0	0	0	7884	739	26	0	1314	0	ITGAD	16	31422111	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	278048	31422111	58932642	1090	146372											
DNAJA2	10294	broad.mit.edu	37	chr16	47005467	47005468	+	Frame_Shift_Del	DEL	AA	AA	-													tttgatagtacttcatatgcAaaacttatttctttaaacta							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:47005467_47005468delAA	uc002eeo.2	-	3	297_298	c.155_156delTT	c.(154-156)TTTfs	p.F52fs	DNAJA2_uc002eep.2_5'UTR	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	52	J.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CTTCATATGCAAAACTTATTTC	0.391													-	47005468	AA	-	47005467	7	5	283	1	0	1	0	1	0	0	0	0	4612	127	5	0	1110	0	DNAJA2	16	47005467	Frame_Shift_Del	DEL	AA	TCGA-HU-A4H8-01A-11D-A25D-08	15583356	47005467	43349286	1091	146373											
CES7	221223	broad.mit.edu	37	chr16	55905570	55905570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtatcggcgtgggcaggCgcatagatgttcaggtagag	16	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:55905570C>T	uc002eip.2	-	3	533	c.384G>A	c.(382-384)GCG>GCA	p.A128A	CES7_uc002eio.2_Silent_p.A128A|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.A22A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	128						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CGTGGGCAGGCGCATAGATGT	0.562													T	55905570	C	T	55905570	2	4	283	1	0	0	0	0	0	0	0	1	3272	755	27	1		1	CES7	16	55905570	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	8900103	55905570	34449183	1092	146374											
CDH5	1003	broad.mit.edu	37	chr16	66424419	66424419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaagtacagcatcttgCggggcgactaccaggacgct	12	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:66424419C>T	uc002eom.3	+	6	1051	c.895C>T	c.(895-897)CGG>TGG	p.R299W	CDH5_uc002eon.1_Missense_Mutation_p.R299W	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	299	Cadherin 3.|Extracellular (Potential).				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			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCATCTTGCGGGGCGACTA	0.562													T	66424419	C	T	66424419	3	4	283	1	0	0	0	0	1	0	0	0	3113	759	27	1	913	1	CDH5	16	66424419	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10518849	66424419	23930334	1093	146375											
CDH5	1003	broad.mit.edu	37	chr16	66436801	66436801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagccaccgaggcacgCgcctggggcacacggagggc	17	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:66436801C>T	uc002eom.3	+	12	2240	c.2084C>T	c.(2083-2085)GCG>GTG	p.A695V		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	695	Cytoplasmic (Potential).				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			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCGAGGCACGCGCCTGGGGCA	0.572													T	66436801	C	T	66436801	3	4	283	1	0	0	0	0	1	0	0	0	3113	768	27	1	2126	1	CDH5	16	66436801	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	12382	66436801	23917952	1094	146376											
C16orf70	80262	broad.mit.edu	37	chr16	67178213	67178213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacatcctctttgatgCgaatacacacaaagtgaaga	8	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67178213C>T	uc002erc.2	+	12	980	c.896C>T	c.(895-897)GCG>GTG	p.A299V	C16orf70_uc002erd.2_Missense_Mutation_p.A299V	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	299										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CTCTTTGATGCGAATACACAC	0.458													T	67178213	C	T	67178213	3	4	283	1	0	0	0	0	1	0	0	0	1829	768	27	1	938	1	C16orf70	16	67178213	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	741412	67178213	23176540	1095	146377											
SLC9A5	6553	broad.mit.edu	37	chr16	67304828	67304828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccctggagagcctagcGtcccctccctgtaaccaggc	9	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67304828G>A	uc002esm.2	+	16	2469	c.2406G>A	c.(2404-2406)GCG>GCA	p.A802A	SLC9A5_uc010cee.2_Silent_p.A507A|SLC9A5_uc010vji.1_Silent_p.A306A	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	802					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGAGCCTAGCGTCCCCTCCCT	0.607													A	67304828	G	A	67304828	2	1	283	1	0	0	0	0	0	0	0	1	14717	1132	40	1		1	SLC9A5	16	67304828	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	126615	67304828	23049925	1096	146378											
GFOD2	81577	broad.mit.edu	37	chr16	67709441	67709441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccccgggcgacgaggcGtcctgcagagcctaccacca	13	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67709441G>A	uc002eub.2	-	3	1070	c.775C>T	c.(775-777)CGC>TGC	p.R259C	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R154C	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	259						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		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)		GCGACGAGGCGTCCTGCAGAG	0.612													A	67709441	G	A	67709441	3	1	283	1	0	0	0	0	1	0	0	0	6344	1145	40	1	386	1	GFOD2	16	67709441	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	404613	67709441	22645312	1097	146379											
GFOD2	81577	broad.mit.edu	37	chr16	67709700	67709700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatggtgtgcaagcccccGccgcccatgagctcatcaca	9	18	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67709700G>A	uc002eub.2	-	3	811	c.516C>T	c.(514-516)GGC>GGT	p.G172G	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Silent_p.G67G	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	172						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		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)		GCAAGCCCCCGCCGCCCATGA	0.607													A	67709700	G	A	67709700	2	1	283	1	0	0	0	0	0	0	0	1	6344	1074	38	1		1	GFOD2	16	67709700	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	259	67709700	22645053	1098	146380											
SLC12A4	6560	broad.mit.edu	37	chr16	67982038	67982038	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcacaggcgaggttcacGaacaggtagcacatcagaaa	11	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:67982038G>A	uc002euz.2	-	14	1914	c.1773C>T	c.(1771-1773)TTC>TTT	p.F591F	SLC12A4_uc010ceu.2_Silent_p.F585F|SLC12A4_uc010vkh.1_Silent_p.F560F|SLC12A4_uc010vki.1_Silent_p.F591F|SLC12A4_uc010vkj.1_Silent_p.F593F|SLC12A4_uc002eva.2_Silent_p.F591F|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	591	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		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)	CGAGGTTCACGAACAGGTAGC	0.632													A	67982038	G	A	67982038	2	1	283	1	0	0	0	0	0	0	0	1	14385	1049	37	1		1	SLC12A4	16	67982038	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	272338	67982038	22372715	1099	146381											
SLC7A6	9057	broad.mit.edu	37	chr16	68330568	68330568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgttctgcatatgctcCgtgtttctggtgatagtgcc	11	9	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:68330568C>T	uc002evt.1	+	11	1617	c.1308C>T	c.(1306-1308)TCC>TCT	p.S436S	SLC7A6_uc002evu.1_Silent_p.S436S|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid	436	Helical; (Potential).				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			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCATATGCTCCGTGTTTCTGG	0.488													T	68330568	C	T	68330568	2	4	283	1	0	0	0	0	0	0	0	1	14701	639	23	1		1	SLC7A6	16	68330568	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	348530	68330568	22024185	1100	146382											
VPS4A	27183	broad.mit.edu	37	chr16	69353359	69353359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaaatcctacctggccaAagccgtggcaacagaggcca	12	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:69353359A>C	uc002eww.2	+	6	661	c.533A>C	c.(532-534)AAA>ACA	p.K178T		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	178					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				0		Ovarian(137;0.101)				TACCTGGCCAAAGCCGTGGCA	0.582													C	69353359	A	C	69353359	3	2	283	1	0	0	0	0	1	0	0	0	17209	14	1	5	555	5	VPS4A	16	69353359	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1022791	69353359	21001394	1101	146383											
DHX38	9785	broad.mit.edu	37	chr16	72132685	72132685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggctgtccactcgagatcGagacaggtgatgttctgggc	14	10	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:72132685G>A	uc002fcb.2	+	5	1113	c.758G>A	c.(757-759)CGA>CAA	p.R253Q	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	253					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			skin(1)	1		Ovarian(137;0.125)				ACTCGAGATCGAGACAGGTGA	0.627													A	72132685	G	A	72132685	3	1	283	1	0	0	0	0	1	0	0	0	4511	1058	37	1	772	1	DHX38	16	72132685	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2779326	72132685	18222068	1102	146384											
WDR59	79726	broad.mit.edu	37	chr16	74943405	74943405	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagagacccacctgctcCgcagaacctggccccagaag	9	17	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:74943405C>A	uc002fdh.1	-	16	1738	c.1636G>T	c.(1636-1638)GGA>TGA	p.G546*	WDR59_uc002fdi.2_Nonsense_Mutation_p.G546*|WDR59_uc002fdg.1_Nonsense_Mutation_p.G138*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	546										ovary(1)|breast(1)	2						CCACCTGCTCCGCAGAACCTG	0.507													A	74943405	C	A	74943405	4	1	283	1	0	0	0	0	0	1	0	0	17305	661	23	5	1332	5	WDR59	16	74943405	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2810720	74943405	15411348	1103	146385											
CNTNAP4	85445	broad.mit.edu	37	chr16	76555095	76555095	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatatcttcattttcctacCttccacggagaacttagcgc	5	13	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:76555095C>A	uc002feu.1	+	18	2809	c.2424C>A	c.(2422-2424)ACC>ACA	p.T808T	CNTNAP4_uc002fev.1_Silent_p.T672T|CNTNAP4_uc010chb.1_Silent_p.T735T|CNTNAP4_uc002fex.1_Silent_p.T811T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	808	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						ATTTTCCTACCTTCCACGGAG	0.353													A	76555095	C	A	76555095	2	1	283	1	0	0	0	0	0	0	0	1	3649	668	24	5		5	CNTNAP4	16	76555095	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1611690	76555095	13799658	1104	146386											
HSDL1	83693	broad.mit.edu	37	chr16	84163781	84163781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgagtgaaatactgcGggtagggataaaacacaccc	11	9	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:84163781G>A	uc002fhk.2	-	4	660	c.476C>T	c.(475-477)CCG>CTG	p.P159L	HSDL1_uc010vnv.1_Intron	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1 isoform a	159						mitochondrion	oxidoreductase activity|protein binding				0						GAAATACTGCGGGTAGGGATA	0.488													A	84163781	G	A	84163781	3	1	283	1	0	0	0	0	1	0	0	0	7393	1116	39	1	528	1	HSDL1	16	84163781	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7608686	84163781	6190972	1105	146387											
COX4I1	1327	broad.mit.edu	37	chr16	85839345	85839345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgcccccagtgtatcGcattaagttcaaggagagct	9	12	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:85839345G>A	uc002fje.2	+	4	412	c.248G>A	c.(247-249)CGC>CAC	p.R83H	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.R83H|COX4I1_uc010vom.1_Missense_Mutation_p.R50H	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	83					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CCAGTGTATCGCATTAAGTTC	0.537													A	85839345	G	A	85839345	3	1	283	1	0	0	0	0	1	0	0	0	3769	1087	38	1	258	1	COX4I1	16	85839345	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1675564	85839345	4515408	1106	146388											
COX4I1	1327	broad.mit.edu	37	chr16	85839428	85839428	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggtgccatgttcttcAtcggtttcaccgcgctcgtt	12	12	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:85839428A>G	uc002fje.2	+	4	495	c.331A>G	c.(331-333)ATC>GTC	p.I111V	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.I111V|COX4I1_uc010vom.1_Missense_Mutation_p.I78V	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	111					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CATGTTCTTCATCGGTTTCAC	0.572													G	85839428	A	G	85839428	3	3	283	1	0	0	0	0	1	0	0	0	3769	217	8	3	341	3	COX4I1	16	85839428	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	83	85839428	4515325	1107	146389											
FOXC2	2303	broad.mit.edu	37	chr16	86601223	86601223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccgagaagaagatcacCttgaacggcatctaccagtt	10	12	2	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:86601223C>T	uc002fjq.2	+	1	367	c.282C>T	c.(280-282)ACC>ACT	p.T94T		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	94	Fork-head.				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				0						AGAAGATCACCTTGAACGGCA	0.602									Late-onset_Hereditary_Lymphedema				T	86601223	C	T	86601223	2	4	283	1	0	0	0	0	0	0	0	1	5995	668	24	4		4	FOXC2	16	86601223	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	761795	86601223	3753530	1108	146390											
FOXC2	2303	broad.mit.edu	37	chr16	86602288	86602288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaaactttccccaaCgtgcgggagatgttcaactc	9	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:86602288C>T	uc002fjq.2	+	1	1432	c.1347C>T	c.(1345-1347)AAC>AAT	p.N449N		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	449					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				0						CTTTCCCCAACGTGCGGGAGA	0.607									Late-onset_Hereditary_Lymphedema				T	86602288	C	T	86602288	2	4	283	1	0	0	0	0	0	0	0	1	5995	535	19	1		1	FOXC2	16	86602288	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1065	86602288	3752465	1109	146391											
BANP	54971	broad.mit.edu	37	chr16	88066741	88066741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagcaccccacctcctGccagcgagctcccgcagcca	9	19	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:88066741G>A	uc002fkr.2	+	9	1287	c.1063G>A	c.(1063-1065)GCC>ACC	p.A355T	BANP_uc002fkp.2_Missense_Mutation_p.A325T|BANP_uc002fkq.2_Missense_Mutation_p.A325T|BANP_uc010vow.1_Missense_Mutation_p.A363T|BANP_uc002fks.3_Missense_Mutation_p.A324T|BANP_uc002fko.1_Missense_Mutation_p.A261T|BANP_uc010vov.1_Missense_Mutation_p.A330T	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	356	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACCTCCTGCCAGCGAGCT	0.632													A	88066741	G	A	88066741	3	1	283	1	0	0	0	0	1	0	0	0	1310	1319	46	2	1138	2	BANP	16	88066741	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1464453	88066741	2288012	1110	146392											
ANKRD11	29123	broad.mit.edu	37	chr16	89348416	89348416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttgtctttgagcacgcGgggcgggctgtccttgtccc	15	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:89348416G>A	uc002fmx.1	-	9	4995	c.4534C>T	c.(4534-4536)CGC>TGC	p.R1512C	ANKRD11_uc002fmy.1_Missense_Mutation_p.R1512C|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1512C|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1469C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1512	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		TTGAGCACGCGGGGCGGGCTG	0.637													A	89348416	G	A	89348416	3	1	283	1	0	0	0	0	1	0	0	0	639	1116	39	1	3477	1	ANKRD11	16	89348416	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1281675	89348416	1006337	1111	146393											
TUBB3	10381	broad.mit.edu	37	chr16	90001326	90001326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctcatcagcaaggtgcGtgaggagtatcccgaccgca	13	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr16:90001326G>A	uc002fph.1	+	4	532	c.467G>A	c.(466-468)CGT>CAT	p.R156H	TUBB3_uc002fpf.2_Missense_Mutation_p.R503H|TUBB3_uc010ciz.1_Missense_Mutation_p.R84H|TUBB3_uc002fpg.1_Missense_Mutation_p.R10H|TUBB3_uc002fpi.1_Missense_Mutation_p.R84H|TUBB3_uc002fpj.1_Missense_Mutation_p.R84H|TUBB3_uc010cjb.1_Missense_Mutation_p.R10H|TUBB3_uc002fpk.1_Missense_Mutation_p.R10H	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	156					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		AGCAAGGTGCGTGAGGAGTAT	0.632													A	90001326	G	A	90001326	3	1	283	1	0	0	0	0	1	0	0	0	16754	1145	40	1	481	1	TUBB3	16	90001326	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	652910	90001326	353427	1112	146394											
ABR	29	broad.mit.edu	37	chr17	994924	994924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttctggaagaggtggCccatggtgacctggctgtcc	14	12	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:994924C>T	uc002fsd.2	-	4	622	c.512G>A	c.(511-513)GGC>GAC	p.G171D	ABR_uc002fse.2_Missense_Mutation_p.G125D|ABR_uc002fsg.2_Missense_Mutation_p.G134D|ABR_uc002fsh.1_Missense_Mutation_p.G55D|ABR_uc010cjq.1_Missense_Mutation_p.G183D	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	171	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	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAAGAGGTGGCCCATGGTGAC	0.572													T	994924	C	T	994924	3	4	283	1	0	0	0	0	1	0	0	0	99	739	26	2	2147	2	ABR	17	994924	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		994924	80200286	1113	146395											
SLC43A2	124935	broad.mit.edu	37	chr17	1518295	1518295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtttacttgctccgtaCgcaatcagcaagcaggaaac	9	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:1518295C>T	uc002fsv.2	-	4	491	c.402G>A	c.(400-402)GCG>GCA	p.A134A	SLC43A2_uc002fsu.2_Silent_p.A134A|SLC43A2_uc002fsw.2_Silent_p.A134A|SLC43A2_uc002fsx.2_Silent_p.A134A	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	134	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTGCTCCGTACGCAATCAGCA	0.493													T	1518295	C	T	1518295	2	4	283	1	0	0	0	0	0	0	0	1	14633	523	19	1		1	SLC43A2	17	1518295	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	523371	1518295	79676915	1114	146396											
RILP	83547	broad.mit.edu	37	chr17	1552944	1552944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactagcggcaccagcccgGccgccgcctccggcccgaaa	11	21	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:1552944G>A	uc002ftd.2	-	1	449	c.155C>T	c.(154-156)GCC>GTC	p.A52V		NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	52					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCAGCCCGGCCGCCGCCTC	0.736													A	1552944	G	A	1552944	3	1	283	1	0	0	0	0	1	0	0	0	13360	1203	42	2	1082	2	RILP	17	1552944	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	34649	1552944	79642266	1115	146397											
RTN4RL1	146760	broad.mit.edu	37	chr17	1928168	1928168	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcgaagcatgttggccaCggggccgccgctccgaggtc	15	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:1928168C>T	uc002ftp.2	-	1	11	c.-8G>A	c.(-10--6)CCGTG>CCATG			NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor						axon regeneration	anchored to plasma membrane	receptor activity				0						ATGTTGGCCACGGGGCCGCCG	0.587													T	1928168	C	T	1928168	1	4	283	1	0	0	0	0	0	0	0	0	13731	551	19	1		1	RTN4RL1	17	1928168	Translation_Start_Site	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	375224	1928168	79267042	1116	146398											
TRPV1	7442	broad.mit.edu	37	chr17	3493653	3493653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaccagggccatgttgCgtctctcgatggcgatgtgc	15	11	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:3493653C>T	uc010vrr.1	-	4	1165	c.638G>A	c.(637-639)CGC>CAC	p.R213H	TRPV1_uc010vro.1_Missense_Mutation_p.R213H|TRPV1_uc010vrp.1_Missense_Mutation_p.R213H|TRPV1_uc010vrq.1_Missense_Mutation_p.R211H|TRPV1_uc010vrs.1_Missense_Mutation_p.R213H|TRPV1_uc010vrt.1_Missense_Mutation_p.R213H|TRPV1_uc010vru.1_Missense_Mutation_p.R213H	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	213	ANK 3.|Cytoplasmic (Potential).				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			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGCCATGTTGCGTCTCTCGAT	0.632													T	3493653	C	T	3493653	3	4	283	1	0	0	0	0	1	0	0	0	16592	768	27	1	1602	1	TRPV1	17	3493653	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1565485	3493653	77701557	1117	146399											
MYBBP1A	10514	broad.mit.edu	37	chr17	4448203	4448204	+	Frame_Shift_Del	DEL	CT	CT	-													ccagctcctcctcgttctcaCtgtcctctccaccctgaggg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4448202_4448203ACT>A	uc002fxz.4	-	17	2386_2387	c.2324_2325AGT>T	c.(2323-2325)agtfs	p.S775fs	MYBBP1A_uc002fyb.4_Frame_Shift_Del_p.S775fs|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_5'Flank	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	775	Glu-rich.				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|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						CCTCGTTCTCACTGTCCTCTCC	0.693													-	4448204	CT	-	4448203	7	5	283	1	0	1	0	1	0	0	0	0	10008	565	20	0	1738	0	MYBBP1A	17	4448203	Frame_Shift_Del	DEL	CT	TCGA-HU-A4H8-01A-11D-A25D-08	954550	4448203	76747007	1118	146400											
ZMYND15	84225	broad.mit.edu	37	chr17	4646746	4646746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccctcagccttcttcgCggtggtgcgtggggtctctc	12	15	3	0	rs147604131		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4646746C>T	uc002fyt.2	+	6	1332	c.1293C>T	c.(1291-1293)CGC>CGT	p.R431R	ZMYND15_uc002fyv.2_Silent_p.R431R|ZMYND15_uc002fyu.2_Silent_p.R431R	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	431							zinc ion binding				0						GCCTTCTTCGCGGTGGTGCGT	0.617													T	4646746	C	T	4646746	2	4	283	1	0	0	0	0	0	0	0	1	17705	755	27	1		1	ZMYND15	17	4646746	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	198543	4646746	76548464	1119	146401											
VMO1	284013	broad.mit.edu	37	chr17	4688915	4688915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagccactaggtaggcGccgccgcgacaccacagcgg	14	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4688915G>A	uc002fyx.2	-	3	433	c.351C>T	c.(349-351)GGC>GGT	p.G117G	VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 isoform 1	117					vitelline membrane formation	extracellular region				ovary(1)	1						CTAGGTAGGCGCCGCCGCGAC	0.647													A	4688915	G	A	4688915	2	1	283	1	0	0	0	0	0	0	0	1	17174	1074	38	1		1	VMO1	17	4688915	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	42169	4688915	76506295	1120	146402											
CAMTA2	23125	broad.mit.edu	37	chr17	4877058	4877058	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaacccaggcccctggcCttcatcctgcgatatacaca	7	16	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:4877058C>A	uc002gah.1	-	13	2131	c.2023G>T	c.(2023-2025)GGC>TGC	p.G675C	CAMTA2_uc010cku.1_Missense_Mutation_p.G698C|CAMTA2_uc002gag.1_Missense_Mutation_p.G674C|CAMTA2_uc002gai.1_Missense_Mutation_p.G677C|CAMTA2_uc010ckv.1_Missense_Mutation_p.G322C	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	675					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGCCCCTGGCCTTCATCCTGC	0.582													A	4877058	C	A	4877058	3	1	283	1	0	0	0	0	1	0	0	0	2614	681	24	5	1679	5	CAMTA2	17	4877058	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	188143	4877058	76318152	1121	146403											
USP6	9098	broad.mit.edu	37	chr17	5071348	5071348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaagtgagatgtactActgttccaagtgtaagaccc	12	7	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:5071348A>G	uc002gau.1	+	34	5388	c.3158A>G	c.(3157-3159)TAC>TGC	p.Y1053C	USP6_uc002gav.1_Missense_Mutation_p.Y1053C|USP6_uc010ckz.1_Missense_Mutation_p.Y736C	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	1053					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			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GAGATGTACTACTGTTCCAAG	0.547			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								G	5071348	A	G	5071348	3	3	283	1	0	0	0	0	1	0	0	0	17083	391	14	3	3256	3	USP6	17	5071348	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	194290	5071348	76123862	1122	146404											
PITPNM3	83394	broad.mit.edu	37	chr17	6367524	6367524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaggatagacaccaacccCcaggcgccggggccgcggca	13	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:6367524C>A	uc002gdd.3	-	16	2273	c.2122G>T	c.(2122-2124)GGG>TGG	p.G708W	PITPNM3_uc010cln.2_Missense_Mutation_p.G672W|PITPNM3_uc010clm.2_Missense_Mutation_p.G191W|PITPNM3_uc002gdc.3_Missense_Mutation_p.G299W	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	708					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACACCAACCCCCAGGCGCCGG	0.587													A	6367524	C	A	6367524	3	1	283	1	0	0	0	0	1	0	0	0	11952	623	22	5	822	5	PITPNM3	17	6367524	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1296176	6367524	74827686	1123	146405											
ZBTB4	57659	broad.mit.edu	37	chr17	7369878	7369878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagaggcagctgtGgtggtggcagggttgggtgc	23	4	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7369878G>A	uc002ghc.3	-	3	493	c.243C>T	c.(241-243)ACC>ACT	p.T81T	ZBTB4_uc002ghd.3_Silent_p.T81T	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	81	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		aGGCAGCTGTGGTGGTGGCAG	0.393													A	7369878	G	A	7369878	2	1	283	1	0	0	0	0	0	0	0	1	17538	1335	47	4		4	ZBTB4	17	7369878	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1002354	7369878	73825332	1124	146406											
SENP3	26168	broad.mit.edu	37	chr17	7466956	7466956	+	Frame_Shift_Del	DEL	C	C	-													cccctgttgtcgttttgactCcccccgggggccacctccac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7466956delC	uc002ghm.2	+	2	836	c.563delC	c.(562-564)TCCfs	p.S188fs	EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	188					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CGTTTTGACTCCCCCCGGGGG	0.597													-	7466956	C	-	7466956	7	5	283	1	0	1	0	1	0	0	0	0	14048	855	30	0	565	0	SENP3	17	7466956	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	97078	7466956	73728254	1125	146407											
ALOX12B	242	broad.mit.edu	37	chr17	7976518	7976518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcagcgtgatgcacGtggtcttcacatccggcaac	11	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7976518G>A	uc002gjy.1	-	14	2135	c.1874C>T	c.(1873-1875)ACG>ATG	p.T625M		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	625	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CGTGATGCACGTGGTCTTCAC	0.612										Multiple Myeloma(8;0.094)			A	7976518	G	A	7976518	3	1	283	1	0	0	0	0	1	0	0	0	537	1145	40	1	239	1	ALOX12B	17	7976518	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	509562	7976518	73218692	1126	146408											
ALOX12B	242	broad.mit.edu	37	chr17	7976593	7976593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtctgaatcggtggattcCgcatggacgctgggaagttg	15	7	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:7976593C>T	uc002gjy.1	-	14	2060	c.1799G>A	c.(1798-1800)CGG>CAG	p.R600Q		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	600	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CGGTGGATTCCGCATGGACGC	0.587										Multiple Myeloma(8;0.094)			T	7976593	C	T	7976593	3	4	283	1	0	0	0	0	1	0	0	0	537	652	23	1	314	1	ALOX12B	17	7976593	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	75	7976593	73218617	1127	146409											
PFAS	5198	broad.mit.edu	37	chr17	8158873	8158873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctctggctaccctgcaCgaccggatgacagagcagca	11	13	1	2	rs150219874	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:8158873C>T	uc002gkr.2	+	5	579	c.438C>T	c.(436-438)CAC>CAT	p.H146H	PFAS_uc010vuv.1_Intron	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	146					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACCCTGCACGACCGGATGA	0.572													T	8158873	C	T	8158873	2	4	283	1	0	0	0	0	0	0	0	1	11754	535	19	1		1	PFAS	17	8158873	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	182280	8158873	73036337	1128	146410											
KRBA2	124751	broad.mit.edu	37	chr17	8273459	8273459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcatattttgctgcacGgcgataatcacgtgatgact	8	10	2	2	rs150010343		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:8273459G>A	uc002glf.1	-	2	478	c.472C>T	c.(472-474)CGT>TGT	p.R158C	KRBA2_uc002glg.1_Missense_Mutation_p.R75C	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	158					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						TTTGCTGCACGGCGATAATCA	0.378													A	8273459	G	A	8273459	3	1	283	1	0	0	0	0	1	0	0	0	8440	1116	39	1	1010	1	KRBA2	17	8273459	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	114586	8273459	72921751	1129	146411											
MYH10	4628	broad.mit.edu	37	chr17	8411973	8411973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggaacactcagcaatgCgatcttccatgagtttcttt	9	9	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:8411973C>T	uc002gll.2	-	24	3116	c.3020G>A	c.(3019-3021)CGC>CAC	p.R1007H	MYH10_uc002glm.2_Missense_Mutation_p.R1038H|MYH10_uc010cnx.2_Missense_Mutation_p.R1016H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1007	Potential.				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			ovary(2)	2						CTCAGCAATGCGATCTTCCAT	0.413													T	8411973	C	T	8411973	3	4	283	1	0	0	0	0	1	0	0	0	10030	768	27	1	2982	1	MYH10	17	8411973	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	138514	8411973	72783237	1130	146412											
GAS7	8522	broad.mit.edu	37	chr17	9873065	9873065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgctggggtccctgatgCgtggtatccattcactgcag	14	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:9873065C>T	uc002gmg.1	-	4	561	c.400G>A	c.(400-402)GCA>ACA	p.A134T	GAS7_uc010vvd.1_Missense_Mutation_p.A86T|GAS7_uc002gmi.2_Missense_Mutation_p.A70T|GAS7_uc002gmj.1_Missense_Mutation_p.A74T|GAS7_uc010coh.1_Missense_Mutation_p.A74T	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	134					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTCCCTGATGCGTGGTATCCA	0.602			T	MLL	AML*								T	9873065	C	T	9873065	3	4	283	1	0	0	0	0	1	0	0	0	6250	768	27	1	1125	1	GAS7	17	9873065	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1461092	9873065	71322145	1131	146413											
MYH4	4622	broad.mit.edu	37	chr17	10348604	10348604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattgcgggcttcctggaCgatgtcctccatctctccct	9	15	1	0	rs144889690	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:10348604C>T	uc002gmn.2	-	36	5356	c.5245G>A	c.(5245-5247)GTC>ATC	p.V1749I	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1749	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GCTTCCTGGACGATGTCCTCC	0.468													T	10348604	C	T	10348604	3	4	283	1	0	0	0	0	1	0	0	0	10037	536	19	1	594	1	MYH4	17	10348604	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	475539	10348604	70846606	1132	146414											
MYH4	4622	broad.mit.edu	37	chr17	10355524	10355524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgaagtggccccacCggcttcttccagcctctcac	10	17	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:10355524C>T	uc002gmn.2	-	27	3583	c.3472G>A	c.(3472-3474)GGT>AGT	p.G1158S	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1158	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GTGGCCCCACCGGCTTCTTCC	0.612													T	10355524	C	T	10355524	3	4	283	1	0	0	0	0	1	0	0	0	10037	652	23	1	2403	1	MYH4	17	10355524	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6920	10355524	70839686	1133	146415											
MYH1	4619	broad.mit.edu	37	chr17	10404768	10404768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctctgctttggcccGggaggcccgctctgcctcga	12	16	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:10404768G>A	uc002gmo.2	-	27	3491	c.3397C>T	c.(3397-3399)CGG>TGG	p.R1133W	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1133	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GCTTTGGCCCGGGAGGCCCGC	0.572													A	10404768	G	A	10404768	3	1	283	1	0	0	0	0	1	0	0	0	10029	1115	39	1	2478	1	MYH1	17	10404768	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	49244	10404768	70790442	1134	146416											
MPRIP	23164	broad.mit.edu	37	chr17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-													acaggacttcaccaatgaagCccccccagctcctctcccag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17046886delC	uc002gqu.1	+	9	1108	c.1052delC	c.(1051-1053)GCCfs	p.A351fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding				0						ACCAATGAAGCCCCCCCAGCT	0.652													-	17046886	C	-	17046886	7	5	283	1	0	1	0	1	0	0	0	0	9743	739	26	0	1086	0	MPRIP	17	17046886	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	6642118	17046886	64148324	1135	146417											
FLCN	201163	broad.mit.edu	37	chr17	17129580	17129580	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgacgtatttaatggaGgtctctttatcatggctgat	11	6	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17129580G>T	uc002gra.3	-	5	810	c.306C>A	c.(304-306)ACC>ACA	p.T102T	PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.T102T|FLCN_uc002grc.2_Silent_p.T102T	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	102					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						ATTTAATGGAGGTCTCTTTAT	0.557									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				T	17129580	G	T	17129580	2	4	283	1	0	0	0	0	0	0	0	1	5921	987	35	5		5	FLCN	17	17129580	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	82694	17129580	64065630	1136	146418											
MED9	55090	broad.mit.edu	37	chr17	17394785	17394785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagtacaagagcctctgCatgttcgaaatccccaagga	8	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17394785C>T	uc002grh.1	+	2	473	c.417C>T	c.(415-417)TGC>TGT	p.C139C		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	139	Potential.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding				0						AGAGCCTCTGCATGTTCGAAA	0.562													T	17394785	C	T	17394785	2	4	283	1	0	0	0	0	0	0	0	1	9454	718	25	2		2	MED9	17	17394785	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	265205	17394785	63800425	1137	146419											
RAI1	10743	broad.mit.edu	37	chr17	17699712	17699712	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatccttcggtcacgcacCaaaacccaggagatcttcca	7	14	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17699712C>A	uc002grm.2	+	3	3919	c.3450C>A	c.(3448-3450)ACC>ACA	p.T1150T	RAI1_uc002grn.1_Silent_p.T1150T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1150						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGTCACGCACCAAAACCCAGG	0.637													A	17699712	C	A	17699712	2	1	283	1	0	0	0	0	0	0	0	1	13007	581	21	5		5	RAI1	17	17699712	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	304927	17699712	63495498	1138	146420											
RAI1	10743	broad.mit.edu	37	chr17	17700691	17700691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccggctctgctcctgactCcccgagacagggccagtggc	13	17	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:17700691C>T	uc002grm.2	+	3	4898	c.4429C>T	c.(4429-4431)CCC>TCC	p.P1477S	RAI1_uc002grn.1_Missense_Mutation_p.P1477S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1477						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCTCCTGACTCCCCGAGACAG	0.657													T	17700691	C	T	17700691	3	4	283	1	0	0	0	0	1	0	0	0	13007	855	30	4	4431	4	RAI1	17	17700691	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	979	17700691	63494519	1139	146421											
MYO15A	51168	broad.mit.edu	37	chr17	18070920	18070920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcctgcctgactaccTgaagggactcttcagcagtg	12	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:18070920T>C	uc010vxh.1	+	61	10303	c.9965T>C	c.(9964-9966)CTG>CCG	p.L3322P	MYO15A_uc010vxi.1_Missense_Mutation_p.L586P|MYO15A_uc010vxk.1_Missense_Mutation_p.L15P|MYO15A_uc010vxl.1_Missense_Mutation_p.L311P|MYO15A_uc002gsl.2_Missense_Mutation_p.L329P|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3322	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTGACTACCTGAAGGGACTC	0.662													C	18070920	T	C	18070920	3	2	283	1	0	0	0	0	1	0	0	0	10063	1580	55	3	10203	3	MYO15A	17	18070920	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	370229	18070920	63124290	1140	146422											
SHMT1	6470	broad.mit.edu	37	chr17	18259317	18259317	+	Splice_Site	DEL	A	A	-													gcactggttcgaagctgcctAaaaaaatgggaaaaacatgt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:18259316_18259316TA>T	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGG	0.408													-	18259317	A	-	18259317	8	5	283	1	0	1	0	1	0	0	1	0	14285	377	13	0		0	SHMT1	17	18259317	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	188397	18259317	62935893	1141	146423											
SPAG5	10615	broad.mit.edu	37	chr17	26906803	26906803	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccattgatgctactcgGgtgaaagcactcttgtcact	9	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:26906803G>T	uc002hbq.2	-	17	2942	c.2850C>A	c.(2848-2850)ACC>ACA	p.T950T	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	950					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					ATGCTACTCGGGTGAAAGCAC	0.507													T	26906803	G	T	26906803	2	4	283	1	0	0	0	0	0	0	0	1	14981	1219	43	5		5	SPAG5	17	26906803	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8647486	26906803	54288407	1142	146424											
PIPOX	51268	broad.mit.edu	37	chr17	27380010	27380010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaggccaatctgtcgagGcagagggtagaacaccagtg	13	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:27380010G>A	uc002hdr.1	+	3	662	c.336G>A	c.(334-336)AGG>AGA	p.R112R		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	112					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ATCTGTCGAGGCAGAGGGTAG	0.463													A	27380010	G	A	27380010	2	1	283	1	0	0	0	0	0	0	0	1	11943	1194	42	2		2	PIPOX	17	27380010	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	473207	27380010	53815200	1143	146425											
MYO18A	399687	broad.mit.edu	37	chr17	27419968	27419968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcagggccttggtgcGcttcaggtccttccgcagcc	13	15	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:27419968G>A	uc002hdt.1	-	33	5136	c.4978C>T	c.(4978-4980)CGC>TGC	p.R1660C	MYO18A_uc010wbc.1_Missense_Mutation_p.R1193C|MYO18A_uc002hds.2_Missense_Mutation_p.R1202C|MYO18A_uc010csa.1_Missense_Mutation_p.R1623C|MYO18A_uc002hdu.1_Missense_Mutation_p.R1660C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1660	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			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)			GCCTTGGTGCGCTTCAGGTCC	0.612													A	27419968	G	A	27419968	3	1	283	1	0	0	0	0	1	0	0	0	10065	1087	38	1	1226	1	MYO18A	17	27419968	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	39958	27419968	53775242	1144	146426											
EFCAB5	374786	broad.mit.edu	37	chr17	28417521	28417521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcatatagtagttccacttCgtgagagaacaggagaggct	12	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:28417521C>T	uc002het.2	+	20	3958	c.3766C>T	c.(3766-3768)CGT>TGT	p.R1256C	EFCAB5_uc010cse.2_Missense_Mutation_p.R1011C|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1256							calcium ion binding			ovary(1)|skin(1)	2						AGTTCCACTTCGTGAGAGAAC	0.393													T	28417521	C	T	28417521	3	4	283	1	0	0	0	0	1	0	0	0	4938	884	31	1	4011	1	EFCAB5	17	28417521	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	997553	28417521	52777689	1145	146427											
SLC6A4	6532	broad.mit.edu	37	chr17	28548905	28548905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaccttctgtagaactccGttttcctgacaatcttctcc	4	14	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:28548905G>A	uc002hey.3	-	3	616	c.72C>T	c.(70-72)AAC>AAT	p.N24N		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	24	Cytoplasmic (Potential).				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			skin(3)|ovary(1)	4					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)	GTAGAACTCCGTTTTCCTGAC	0.507													A	28548905	G	A	28548905	2	1	283	1	0	0	0	0	0	0	0	1	14686	1136	40	1		1	SLC6A4	17	28548905	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	131384	28548905	52646305	1146	146428											
EVI2B	2124	broad.mit.edu	37	chr17	29632035	29632036	+	Frame_Shift_Ins	INS	-	-	T													agctattgaattataattgtINSttttttgtggggtttgtttg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:29632034_29632035G>GT	uc010csq.2	-	2	821_822	c.638_639C>AC	c.(637-639)aacfs	p.N213fs	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Frame_Shift_Ins_p.N198fs|EVI2B_uc021tuk.1_Frame_Shift_Ins_p.N198fs	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	198						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.N199fs*3(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AATTATAATTGTTTTTTTGTGG	0.351													T	29632036	-	T	29632035	7	5	283	1	0	1	1	0	0	0	0	0	5288	1725	60	0	757	0	EVI2B	17	29632035	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1083130	29632035	51563175	1147	146429											
UNC45B	146862	broad.mit.edu	37	chr17	33482316	33482316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgctggggttctaggCcacagtgattctgcatgcag	13	9	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:33482316C>T	uc002hja.2	+	7	738	c.641C>T	c.(640-642)GCC>GTC	p.A214V	UNC45B_uc002hjb.2_Missense_Mutation_p.A214V|UNC45B_uc002hjc.2_Missense_Mutation_p.A214V|UNC45B_uc010cto.2_Missense_Mutation_p.A214V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	214	ARM 2.				cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				GGGTTCTAGGCCACAGTGATT	0.562													T	33482316	C	T	33482316	3	4	283	1	0	0	0	0	1	0	0	0	16986	753	26	2	663	2	UNC45B	17	33482316	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3850281	33482316	47712894	1148	146430											
PIGW	284098	broad.mit.edu	37	chr17	34893474	34893474	+	Frame_Shift_Del	DEL	T	T	-													ttttggagtaggtggctttgTttttgggtctgcaatggttt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:34893474delT	uc002hmy.1	+	2	567	c.524delT	c.(523-525)GTTfs	p.V175fs	MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Frame_Shift_Del_p.V175fs	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	175	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTGGCTTTGTTTTTGGGTCT	0.423													-	34893474	T	-	34893474	7	5	283	1	0	1	0	1	0	0	0	0	11902	1725	60	0	526	0	PIGW	17	34893474	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	1411158	34893474	46301736	1149	146431											
MLLT6	4302	broad.mit.edu	37	chr17	36873726	36873726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccatctcccacagtggcGggatgctgcgggctgtctgc	13	15	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:36873726G>A	uc002hqi.3	+	11	1706	c.1693G>A	c.(1693-1695)GGG>AGG	p.G565R	MLLT6_uc002hqj.2_5'UTR|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	565					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CCACAGTGGCGGGATGCTGCG	0.657			T	MLL	AL								A	36873726	G	A	36873726	3	1	283	1	0	0	0	0	1	0	0	0	9630	1116	39	1	1735	1	MLLT6	17	36873726	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1980252	36873726	44321484	1150	146432											
CDK12	51755	broad.mit.edu	37	chr17	37676314	37676314	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgacttccttaaagatgtCgaactcagcaaaatggctcc	8	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:37676314C>T	uc010cvv.2	+	11	3655	c.3069C>T	c.(3067-3069)GTC>GTT	p.V1023V	CDK12_uc010wef.1_Silent_p.V1022V|CDK12_uc002hrw.3_Silent_p.V1023V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1023					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			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TTAAAGATGTCGAACTCAGCA	0.468										TCGA Ovarian(9;0.13)			T	37676314	C	T	37676314	2	4	283	1	0	0	0	0	0	0	0	1	3128	871	31	1		1	CDK12	17	37676314	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	802588	37676314	43518896	1151	146433											
ERBB2	2064	broad.mit.edu	37	chr17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggatgtgcggctcGtacacagggacttggccgct	15	11	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:37881332G>A	uc002hso.2	+	21	2762	c.2524G>A	c.(2524-2526)GTA>ATA	p.V842I	ERBB2_uc002hsm.2_Missense_Mutation_p.V812I|ERBB2_uc010cwa.2_Missense_Mutation_p.V827I|ERBB2_uc002hsp.2_Missense_Mutation_p.V645I|ERBB2_uc010cwb.2_Missense_Mutation_p.V842I|ERBB2_uc010wek.1_Missense_Mutation_p.V566I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	842	Cytoplasmic (Potential).|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	p.V842I(2)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	TGTGCGGCTCGTACACAGGGA	0.597		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			A	37881332	G	A	37881332	3	1	283	1	0	0	0	0	1	0	0	0	5206	1145	40	1	2606	1	ERBB2	17	37881332	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	205018	37881332	43313878	1152	146434											
GSDMB	55876	broad.mit.edu	37	chr17	38066178	38066178	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagttccctcttcagcttcCtggagagagtggagagagat	13	8	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:38066178C>T	uc010cwj.2	-	3	413	c.408_splice	c.e3-1	p.R136_splice	GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_Splice_Site|GSDMB_uc010cwl.2_Splice_Site|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Splice_Site_p.R136_splice|GSDMB_uc002hth.2_Splice_Site_p.R136_splice|GSDMB_uc010wem.1_Splice_Site_p.R136_splice	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1							cytoplasm				breast(1)|pancreas(1)	2						CTTCAGCTTCCTGGAGAGAGT	0.468													T	38066178	C	T	38066178	5	4	283	1	0	0	0	0	0	0	1	0	6817	695	24	4	875	4	GSDMB	17	38066178	Splice_Site	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	184846	38066178	43129032	1153	146435											
MED24	9862	broad.mit.edu	37	chr17	38185125	38185125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctttccagtggcggcggCggcagccagcagcaagtcca	14	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:38185125C>T	uc002htt.2	-	14	1676	c.1363G>A	c.(1363-1365)GCC>ACC	p.A455T	MED24_uc010wes.1_Missense_Mutation_p.A315T|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.A480T|MED24_uc002htu.2_Missense_Mutation_p.A442T|MED24_uc010cwn.2_Missense_Mutation_p.A442T|MED24_uc010weu.1_Missense_Mutation_p.A365T|MED24_uc010wev.1_Missense_Mutation_p.A405T|MED24_uc010wew.1_Missense_Mutation_p.A396T|MED24_uc010wex.1_Missense_Mutation_p.A160T	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	455					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			ovary(1)	1	Colorectal(19;0.000442)					GTGGCGGCGGCGGCAGCCAGC	0.632													T	38185125	C	T	38185125	3	4	283	1	0	0	0	0	1	0	0	0	9442	768	27	1	1658	1	MED24	17	38185125	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	118947	38185125	43010085	1154	146436											
KRT28	162605	broad.mit.edu	37	chr17	38953394	38953394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcattgaaccaggcctccGcgtccttgcggttctgctct	9	15	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:38953394G>A	uc002hvh.1	-	4	896	c.830C>T	c.(829-831)GCG>GTG	p.A277V		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	277	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CCAGGCCTCCGCGTCCTTGCG	0.632													A	38953394	G	A	38953394	3	1	283	1	0	0	0	0	1	0	0	0	8465	1087	38	1	584	1	KRT28	17	38953394	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	768269	38953394	42241816	1155	146437											
KLHL11	55175	broad.mit.edu	37	chr17	40010212	40010212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccacctcttcctctccGcacaatatcggtaggcttct	6	16	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:40010212G>A	uc002hyf.1	-	2	1913	c.1907C>T	c.(1906-1908)GCG>GTG	p.A636V		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	636	Kelch 5.					extracellular region					0		Breast(137;0.00156)				CTTCCTCTCCGCACAATATCG	0.458													A	40010212	G	A	40010212	3	1	283	1	0	0	0	0	1	0	0	0	8367	1087	38	1	223	1	KLHL11	17	40010212	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1056818	40010212	41184998	1156	146438											
STAT5B	6777	broad.mit.edu	37	chr17	40379600	40379600	+	Frame_Shift_Del	DEL	C	C	-													cttcagtaaaaacccatcttCccccacctggtgctctgcct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:40379600delC	uc002hzh.2	-	3	401	c.232delG	c.(232-234)GAAfs	p.E78fs	STAT5B_uc002hzi.3_Frame_Shift_Del_p.E78fs	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	78					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			ovary(3)|lung(2)|skin(1)	6		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)	AACCCATCTTCCCCCACCTGG	0.552													-	40379600	C	-	40379600	7	5	283	1	0	1	0	1	0	0	0	0	15268	864	30	0	2199	0	STAT5B	17	40379600	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	369388	40379600	40815610	1157	146439											
COASY	80347	broad.mit.edu	37	chr17	40716142	40716142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagttcctggtggtcagCgaggagacctatcgtggggg	18	8	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:40716142C>T	uc002hzz.2	+	3	1021	c.864C>T	c.(862-864)AGC>AGT	p.S288S	COASY_uc010cyj.2_Silent_p.S317S|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Silent_p.S288S|COASY_uc002iac.2_Silent_p.S288S|COASY_uc002iae.2_5'UTR|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	288	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGTGGTCAGCGAGGAGACCT	0.617													T	40716142	C	T	40716142	2	4	283	1	0	0	0	0	0	0	0	1	3652	767	27	1		1	COASY	17	40716142	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	336542	40716142	40479068	1158	146440											
AOC2	314	broad.mit.edu	37	chr17	41001256	41001256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggaagccccctaccccGctacctctacctggctagca	8	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:41001256G>A	uc002ibu.2	+	2	1777	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	AOC2_uc002ibt.2_Missense_Mutation_p.R581H|AOC3_uc002ibv.2_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	581					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			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCCCTACCCCGCTACCTCTAC	0.617													A	41001256	G	A	41001256	3	1	283	1	0	0	0	0	1	0	0	0	727	1087	38	1	1748	1	AOC2	17	41001256	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	285114	41001256	40193954	1159	146441											
ASB16	92591	broad.mit.edu	37	chr17	42254992	42254992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagatgctgaaacactgcGccaacttccctcgggccctg	9	16	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:42254992G>A	uc002ifl.1	+	4	1162	c.1078G>A	c.(1078-1080)GCC>ACC	p.A360T	ASB16_uc002ifm.1_RNA|C17orf65_uc002ifn.2_5'UTR	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box-containing protein	360					intracellular signal transduction		protein binding			kidney(2)	2		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GAAACACTGCGCCAACTTCCC	0.597													A	42254992	G	A	42254992	3	1	283	1	0	0	0	0	1	0	0	0	1020	1087	38	1	1092	1	ASB16	17	42254992	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1253736	42254992	38940218	1160	146442											
GPATCH8	23131	broad.mit.edu	37	chr17	42474962	42474962	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggctggggggatgttGcaggtcctgacctgagaaga	17	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:42474962G>A	uc002igw.1	-	8	4547	c.4483C>T	c.(4483-4485)CAA>TAA	p.Q1495*	GPATCH8_uc002igv.1_Nonsense_Mutation_p.Q1417*|GPATCH8_uc010wiz.1_Nonsense_Mutation_p.Q1417*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1495						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGGGATGTTGCAGGTCCTGA	0.592													A	42474962	G	A	42474962	4	1	283	1	0	0	0	0	0	1	0	0	6594	1328	46	2	29	2	GPATCH8	17	42474962	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	219970	42474962	38720248	1161	146443											
GJC1	10052	broad.mit.edu	37	chr17	42882358	42882358	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattccaagtgaaaggataAttataagcacccggatcctc	8	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:42882358A>G	uc002ihj.2	-	2	1339	c.828T>C	c.(826-828)AAT>AAC	p.N276N	GJC1_uc002ihk.2_Silent_p.N276N|GJC1_uc002ihl.2_Silent_p.N276N|GJC1_uc010czx.2_Silent_p.N276N|GJC1_uc010czy.1_Silent_p.N137N	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	276	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)				TGAAAGGATAATTATAAGCAC	0.438													G	42882358	A	G	42882358	2	3	283	1	0	0	0	0	0	0	0	1	6414	98	4	3		3	GJC1	17	42882358	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	407396	42882358	38312852	1162	146444											
NMT1	4836	broad.mit.edu	37	chr17	43180414	43180414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagcaatttcaccttacGcccgtcatgagccaggagga	10	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:43180414G>A	uc002ihz.2	+	9	1107	c.1089G>A	c.(1087-1089)ACG>ACA	p.T363T	NMT1_uc002iia.2_RNA|NMT1_uc010dad.1_Silent_p.T23T	NM_021079	NP_066565	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				0		Prostate(33;0.155)				TTCACCTTACGCCCGTCATGA	0.547													A	43180414	G	A	43180414	2	1	283	1	0	0	0	0	0	0	0	1	10503	1074	38	1		1	NMT1	17	43180414	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	298056	43180414	38014796	1163	146445											
FMNL1	752	broad.mit.edu	37	chr17	43320666	43320666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaacctgggggccgagcGcatctgccaagccattgagg	16	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:43320666G>A	uc002iin.2	+	17	2392	c.2192G>A	c.(2191-2193)CGC>CAC	p.R731H	FMNL1_uc002iiq.2_Missense_Mutation_p.R309H|FMNL1_uc010dag.2_RNA	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	731	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GGGGCCGAGCGCATCTGCCAA	0.622													A	43320666	G	A	43320666	3	1	283	1	0	0	0	0	1	0	0	0	5951	1087	38	1	2258	1	FMNL1	17	43320666	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	140252	43320666	37874544	1164	146446											
MAP3K14	9020	broad.mit.edu	37	chr17	43345072	43345072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaattggcttgatttggcGgtggatgtcttggttcttta	14	4	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:43345072G>A	uc002iiw.1	-	13	2136	c.2027C>T	c.(2026-2028)CCG>CTG	p.P676L	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.P206L|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.P260L	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	676					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			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						TTGATTTGGCGGTGGATGTCT	0.567													A	43345072	G	A	43345072	3	1	283	1	0	0	0	0	1	0	0	0	9248	1116	39	1	836	1	MAP3K14	17	43345072	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	24406	43345072	37850138	1165	146447											
ITGB3	3690	broad.mit.edu	37	chr17	45376795	45376795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgctgtgcagcggccgCggcaagtgtgaatgtggcag	19	9	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:45376795C>T	uc002ilj.2	+	11	1832	c.1812C>T	c.(1810-1812)CGC>CGT	p.R604R	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	604	IV.|Extracellular (Potential).|Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	GCAGCGGCCGCGGCAAGTGTG	0.602													T	45376795	C	T	45376795	2	4	283	1	0	0	0	0	0	0	0	1	7895	755	27	1		1	ITGB3	17	45376795	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2031723	45376795	35818415	1166	146448											
HOXB5	3215	broad.mit.edu	37	chr17	46670890	46670890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggttgacgctgaggtccAtcccattgtaattgtagccg	12	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:46670890A>G	uc002inr.2	-	1	214	c.155T>C	c.(154-156)ATG>ACG	p.M52T		NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	52						nucleus	sequence-specific DNA binding				0						GCTGAGGTCCATCCCATTGTA	0.632													G	46670890	A	G	46670890	3	3	283	1	0	0	0	0	1	0	0	0	7304	217	8	3	662	3	HOXB5	17	46670890	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1294095	46670890	34524320	1167	146449											
NGFR	4804	broad.mit.edu	37	chr17	47583668	47583668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgctcaggcgtgacGttctccgacgtggtgagcgc	15	14	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:47583668G>A	uc002ioz.3	+	3	341	c.216G>A	c.(214-216)ACG>ACA	p.T72T		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	72	Extracellular (Potential).|TNFR-Cys 2.				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				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CAGGCGTGACGTTCTCCGACG	0.677													A	47583668	G	A	47583668	2	1	283	1	0	0	0	0	0	0	0	1	10396	1132	40	1		1	NGFR	17	47583668	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	912778	47583668	33611542	1168	146450											
SLC35B1	10237	broad.mit.edu	37	chr17	47780357	47780357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccaaaatacacaaccGtcataaagatgaagctctag	9	9	2	2	rs142991261		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:47780357G>A	uc002iph.1	-	8	866	c.779C>T	c.(778-780)ACG>ATG	p.T260M	SLC35B1_uc002ipi.1_Missense_Mutation_p.T193M|SLC35B1_uc002ipj.1_Missense_Mutation_p.T136M	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	260	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						ATACACAACCGTCATAAAGAT	0.463													A	47780357	G	A	47780357	3	1	283	1	0	0	0	0	1	0	0	0	14575	1145	40	1	197	1	SLC35B1	17	47780357	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	196689	47780357	33414853	1169	146451											
XYLT2	64132	broad.mit.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-													ttccacctgtatggcagctaCccccccggcacgccagccct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum 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)					TATGGCAGCTACCCCCCCGGC	0.602													-	48433967	C	-	48433967	7	5	283	1	0	1	0	1	0	0	0	0	17461	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	653610	48433967	32761243	1170	146452											
XYLT2	64132	broad.mit.edu	37	chr17	48435793	48435793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccactgagccggcccctgCggccagggccctggactgtt	13	18	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:48435793C>T	uc002iqo.2	+	10	2276	c.2167C>T	c.(2167-2169)CGG>TGG	p.R723W	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	723	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CCGGCCCCTGCGGCCAGGGCC	0.582													T	48435793	C	T	48435793	3	4	283	1	0	0	0	0	1	0	0	0	17461	759	27	1	2205	1	XYLT2	17	48435793	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1826	48435793	32759417	1171	146453											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917623	48917623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggcacggctttcccggCggccgagtgcctgaagcccc	13	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:48917623C>T	uc002isv.3	+	2	1668	c.974C>T	c.(973-975)GCG>GTG	p.A325V	WFIKKN2_uc010dbu.2_Missense_Mutation_p.A232V	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	325						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTTCCCGGCGGCCGAGTGC	0.647													T	48917623	C	T	48917623	3	4	283	1	0	0	0	0	1	0	0	0	17356	768	27	1	980	1	WFIKKN2	17	48917623	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	481830	48917623	32277587	1172	146454											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		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)					GCTCGGAGGGACCCCCCCGCC	0.597													-	56435161	C	-	56435161	7	5	283	1	0	1	0	1	0	0	0	0	13495	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	7517538	56435161	24760049	1173	146455											
DHX40	79665	broad.mit.edu	37	chr17	57679970	57679970	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggctatttcaaaaatgtaGctcgaaggtaagcaataaag	10	6	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:57679970G>C	uc002ixn.1	+	15	2041	c.1894G>C	c.(1894-1896)GCT>CCT	p.A632P	DHX40_uc010woe.1_Missense_Mutation_p.A555P|DHX40_uc010wof.1_Missense_Mutation_p.A147P	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	632							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAAAATGTAGCTCGAAGGTA	0.318													C	57679970	G	C	57679970	3	2	283	1	0	0	0	0	1	0	0	0	4512	971	34	5	1952	5	DHX40	17	57679970	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1244809	57679970	23515240	1174	146456											
PPM1D	8493	broad.mit.edu	37	chr17	58740889	58740889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcctttacttcatcaacaCaggaaaactgtttgtgtttg	6	8	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:58740889C>T	uc002iyt.1	+	6	2016	c.1794C>T	c.(1792-1794)CAC>CAT	p.H598H	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	598					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			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTCATCAACACAGGAAAACTG	0.418													T	58740889	C	T	58740889	2	4	283	1	0	0	0	0	0	0	0	1	12337	477	17	4		4	PPM1D	17	58740889	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1060919	58740889	22454321	1175	146457											
TBX4	9496	broad.mit.edu	37	chr17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-													ggaggatcactatttccgttCcccccctccctacgaccagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:59560345delC	uc002izi.2	+	8	1151	c.1106delC	c.(1105-1107)TCCfs	p.S369fs	TBX4_uc010ddo.2_Frame_Shift_Del_p.S370fs|TBX4_uc010woy.1_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TATTTCCGTTCCCCCCCTCCC	0.577													-	59560345	C	-	59560345	7	5	283	1	0	1	0	1	0	0	0	0	15657	855	30	0	1136	0	TBX4	17	59560345	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	819456	59560345	21634865	1176	146458											
KCNH6	81033	broad.mit.edu	37	chr17	61611343	61611343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacagccccttcaaggccGtgtgggactggctcatcctg	11	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:61611343G>A	uc002jay.2	+	5	852	c.772G>A	c.(772-774)GTG>ATG	p.V258M	KCNH6_uc002jax.1_Missense_Mutation_p.V258M|KCNH6_uc010wpl.1_Missense_Mutation_p.V135M|KCNH6_uc010wpm.1_Missense_Mutation_p.V258M|KCNH6_uc002jaz.1_Missense_Mutation_p.V258M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	258	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	CTTCAAGGCCGTGTGGGACTG	0.647													A	61611343	G	A	61611343	3	1	283	1	0	0	0	0	1	0	0	0	8036	1145	40	1	790	1	KCNH6	17	61611343	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2050998	61611343	19583867	1177	146459											
GNA13	10672	broad.mit.edu	37	chr17	63010667	63010667	+	Frame_Shift_Del	DEL	A	A	-													gaattatggagacattgctgAaaacccggttattgacgatt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:63010666_63010666GA>G	uc002jfc.3	-	3	1052	c.843_843TC>C	c.(841-843)ttcfs	p.F281fs	GNA13_uc010wqh.2_Frame_Shift_Del_p.F186fs	NM_006572	NP_006563	Q14344	GNA13_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA.	281					Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGACATTGCTGAAAACCCGGT	0.408													-	63010667	A	-	63010667	7	5	283	1	0	1	0	1	0	0	0	0	6501	246	9	0	295	0	GNA13	17	63010667	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	1399324	63010667	18184543	1178	146460											
ABCA5	23461	broad.mit.edu	37	chr17	67246059	67246059	+	Frame_Shift_Del	DEL	A	A	-													tacttaccttcttccagcttAaaaaaagattgtgaaaggga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:67246058_67246058TA>T	uc002jif.2	-	35	5971	c.4753_4753TA>A	c.(4753-4755)aagfs	p.K1585fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.K551fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.K808fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.K502fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.K1585fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1585					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)					TCTTCCAGCTTAAAAAAAGAT	0.299													-	67246059	A	-	67246059	7	5	283	1	0	1	0	1	0	0	0	0	35	359	13	0	188	0	ABCA5	17	67246059	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	4235392	67246059	13949151	1179	146461											
KIF19	124602	broad.mit.edu	37	chr17	72340420	72340420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctacctggagctgcGggaggactctaagggggtga	18	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:72340420G>A	uc002jkm.3	+	6	653	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	KIF19_uc002jkj.2_Missense_Mutation_p.R172Q|KIF19_uc002jkk.2_Intron|KIF19_uc002jkl.2_Intron	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	172	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CTGGAGCTGCGGGAGGACTCT	0.617													A	72340420	G	A	72340420	3	1	283	1	0	0	0	0	1	0	0	0	8282	1116	39	1	537	1	KIF19	17	72340420	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5094361	72340420	8854790	1180	146462											
ARMC7	79637	broad.mit.edu	37	chr17	73125123	73125123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggagcgtggccccacGgcagcgctgatccatggaga	16	13	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:73125123G>A	uc002jmw.1	+	3	889	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	196							binding			pancreas(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGGCCCCACGGCAGCGCTGA	0.682													A	73125123	G	A	73125123	3	1	283	1	0	0	0	0	1	0	0	0	956	1116	39	1	597	1	ARMC7	17	73125123	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	784703	73125123	8070087	1181	146463											
RECQL5	9400	broad.mit.edu	37	chr17	73627684	73627684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtggggttctggcagtggtCgcagcctttggcgcaggcag	18	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:73627684C>T	uc010dgl.2	-	9	1450	c.1294G>A	c.(1294-1296)GAC>AAC	p.D432N	RECQL5_uc010dgk.2_Missense_Mutation_p.D405N|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	432					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			TGGCAGTGGTCGCAGCCTTTG	0.701								Other_identified_genes_with_known_or_suspected_DNA_repair_function					T	73627684	C	T	73627684	3	4	283	1	0	0	0	0	1	0	0	0	13203	884	31	1	1729	1	RECQL5	17	73627684	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	502561	73627684	7567526	1182	146464											
SRP68	6730	broad.mit.edu	37	chr17	74036996	74036996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcaccaaggatggctgCggcctgcagggagcacttct	15	12	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74036996C>T	uc002jqk.1	-	14	1623	c.1588G>A	c.(1588-1590)GCA>ACA	p.A530T	SRP68_uc010wsu.1_Missense_Mutation_p.A429T|SRP68_uc002jql.1_Missense_Mutation_p.A492T|SRP68_uc002jqj.1_Missense_Mutation_p.A191T	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	530					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						AGGATGGCTGCGGCCTGCAGG	0.562													T	74036996	C	T	74036996	3	4	283	1	0	0	0	0	1	0	0	0	15155	768	27	1	307	1	SRP68	17	74036996	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	409312	74036996	7158214	1183	146465											
EXOC7	23265	broad.mit.edu	37	chr17	74094083	74094083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccagggcctccttcccgCgctcaaagagcagtttctgc	9	16	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74094083C>T	uc002jqs.2	-	5	529	c.434G>A	c.(433-435)CGC>CAC	p.R145H	EXOC7_uc010dgv.1_Missense_Mutation_p.R92H|EXOC7_uc002jqq.2_Missense_Mutation_p.R145H|EXOC7_uc010wsw.1_Missense_Mutation_p.R145H|EXOC7_uc010wsx.1_Missense_Mutation_p.R145H|EXOC7_uc002jqr.2_Missense_Mutation_p.R145H|EXOC7_uc010wsv.1_Missense_Mutation_p.R104H|EXOC7_uc002jqu.2_Missense_Mutation_p.R145H	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	145					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCTTCCCGCGCTCAAAGAG	0.582													T	74094083	C	T	74094083	3	4	283	1	0	0	0	0	1	0	0	0	5310	768	27	1	1837	1	EXOC7	17	74094083	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	57087	74094083	7101127	1184	146466											
RNF157	114804	broad.mit.edu	37	chr17	74141371	74141371	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcagagtcctccaggctgCtggatgacaagcgccggcgc	13	14	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74141371C>A	uc002jqz.2	-	19	2054	c.1985G>T	c.(1984-1986)AGC>ATC	p.S662I	RNF157_uc002jra.2_Missense_Mutation_p.S640I|uc002jqy.1_Intron	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	662							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCCAGGCTGCTGGATGACAA	0.617													A	74141371	C	A	74141371	3	1	283	1	0	0	0	0	1	0	0	0	13454	797	28	5	58	5	RNF157	17	74141371	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	47288	74141371	7053839	1185	146467											
UBE2O	63893	broad.mit.edu	37	chr17	74392410	74392410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctacaatggccacatTgtccagggtcttcttgaggt	9	12	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74392410T>C	uc002jrm.3	-	14	2673	c.2608A>G	c.(2608-2610)AAT>GAT	p.N870D	UBE2O_uc002jrn.3_Missense_Mutation_p.N870D|UBE2O_uc002jrl.3_Missense_Mutation_p.N474D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	870	Potential.						ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ATGGCCACATTGTCCAGGGTC	0.562													C	74392410	T	C	74392410	3	2	283	1	0	0	0	0	1	0	0	0	16865	1812	63	3	1290	3	UBE2O	17	74392410	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	251039	74392410	6802800	1186	146468											
AANAT	15	broad.mit.edu	37	chr17	74465953	74465953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggttcagcttccacgcCgtgggcccctgcgccatcac	12	16	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:74465953C>T	uc002jro.2	+	4	759	c.525C>T	c.(523-525)GCC>GCT	p.A175A	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	175	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						GCTTCCACGCCGTGGGCCCCT	0.692													T	74465953	C	T	74465953	2	4	283	1	0	0	0	0	0	0	0	1	18	639	23	1		1	AANAT	17	74465953	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	73543	74465953	6729257	1187	146469											
TNRC6C	57690	broad.mit.edu	37	chr17	76046871	76046871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggggtgagcctccaaaGcccaaatcccaacactgggg	11	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:76046871G>T	uc002jud.2	+	4	2328	c.1728G>T	c.(1726-1728)AAG>AAT	p.K576N	TNRC6C_uc002juf.2_Missense_Mutation_p.K576N|TNRC6C_uc002jue.2_Missense_Mutation_p.K576N	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	576	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCCTCCAAAGCCCAAATCCC	0.562													T	76046871	G	T	76046871	3	4	283	1	0	0	0	0	1	0	0	0	16339	962	34	5	1730	5	TNRC6C	17	76046871	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1580918	76046871	5148339	1188	146470											
TMC6	11322	broad.mit.edu	37	chr17	76117688	76117688	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacggcgcagcccagcgcGgtccccagacacagcagcca	12	19	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:76117688G>A	uc002juj.1	-	10	1458	c.1332C>T	c.(1330-1332)ACC>ACT	p.T444T	TMC6_uc002jui.1_Silent_p.T83T|TMC6_uc010dhf.1_Silent_p.T277T|TMC6_uc002juk.2_Silent_p.T444T|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.T444T|TMC6_uc002jum.3_Silent_p.T235T|TMC6_uc002jun.3_Silent_p.T444T|TMC6_uc002juo.2_Silent_p.T217T	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	444	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCCCAGCGCGGTCCCCAGAC	0.701									Epidermodysplasia_Verruciformis_Familial_Clustering_of				A	76117688	G	A	76117688	2	1	283	1	0	0	0	0	0	0	0	1	15986	1103	39	1		1	TMC6	17	76117688	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	70817	76117688	5077522	1189	146471											
DNAH17	8632	broad.mit.edu	37	chr17	76456073	76456073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaaaggacttcagctctGtcaggttgttctgcaaatga	9	10	4	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:76456073G>A	uc010dhp.1	-	5	668	c.446C>T	c.(445-447)ACA>ATA	p.T149I	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCAGCTCTGTCAGGTTGTT	0.607													A	76456073	G	A	76456073	3	1	283	1	0	0	0	0	1	0	0	0	4601	1377	48	4	4030	4	DNAH17	17	76456073	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	338385	76456073	4739137	1190	146472											
RPTOR	57521	broad.mit.edu	37	chr17	78796081	78796081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatcacagacaccatcgCgtggaacgtgctcccccggg	11	16	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:78796081C>T	uc002jyt.1	+	8	1776	c.971C>T	c.(970-972)GCG>GTG	p.A324V	RPTOR_uc002jys.2_Missense_Mutation_p.A324V|RPTOR_uc010wuf.1_Missense_Mutation_p.A139V|RPTOR_uc010wug.1_Missense_Mutation_p.A324V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	324					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			lung(4)|urinary_tract(1)|ovary(1)	6						GACACCATCGCGTGGAACGTG	0.647													T	78796081	C	T	78796081	3	4	283	1	0	0	0	0	1	0	0	0	13665	768	27	1	1001	1	RPTOR	17	78796081	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2340008	78796081	2399129	1191	146473											
TMEM105	284186	broad.mit.edu	37	chr17	79287760	79287760	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagataaatcagctgcccGatcacatttcctgccctgaa	8	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:79287760G>A	uc002kad.1	-	3	631	c.81C>T	c.(79-81)ATC>ATT	p.I27I		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	transmembrane protein 105	27	Helical; (Potential).					integral to membrane				ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TCAGCTGCCCGATCACATTTC	0.607													A	79287760	G	A	79287760	2	1	283	1	0	0	0	0	0	0	0	1	16016	1048	37	1		1	TMEM105	17	79287760	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	491679	79287760	1907450	1192	146474											
NOTUM	147111	broad.mit.edu	37	chr17	79913389	79913389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccgtcagctgtgcctcGtcaaacagccactgcaccac	7	18	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr17:79913389G>A	uc010wvg.1	-	9	1292	c.1020C>T	c.(1018-1020)GAC>GAT	p.D340D		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	340		Charge relay system (By similarity).				extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCTGTGCCTCGTCAAACAGCC	0.701													A	79913389	G	A	79913389	2	1	283	1	0	0	0	0	0	0	0	1	10552	1136	40	1		1	NOTUM	17	79913389	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	625629	79913389	1281821	1193	146475											
PTPRM	5797	broad.mit.edu	37	chr18	7949201	7949201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgatgtgcgagatgctcCtctgaaggaaatcaaggtga	12	7	2	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:7949201C>T	uc002knn.3	+	6	1189	c.686C>T	c.(685-687)CCT>CTT	p.P229L	PTPRM_uc010dkv.2_Missense_Mutation_p.P229L|PTPRM_uc010wzl.1_Missense_Mutation_p.P16L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	229	Ig-like C2-type.|Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CGAGATGCTCCTCTGAAGGAA	0.463													T	7949201	C	T	7949201	3	4	283	1	0	0	0	0	1	0	0	0	12806	681	24	4	708	4	PTPRM	18	7949201	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		7949201	70128047	1194	146476											
KIAA0802	23255	broad.mit.edu	37	chr18	8819028	8819028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaagacggcaacgttcGcccctttccccaccagggaa	8	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:8819028G>A	uc002knr.2	+	13	3069	c.2927G>A	c.(2926-2928)CGC>CAC	p.R976H	KIAA0802_uc002knq.2_Missense_Mutation_p.R935H|KIAA0802_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1286											0						GGCAACGTTCGCCCCTTTCCC	0.532													A	8819028	G	A	8819028	3	1	283	1	0	0	0	0	1	0	0	0	8194	1087	38	1	2969	1	KIAA0802	18	8819028	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	869827	8819028	69258220	1195	146477											
KIAA0802	23255	broad.mit.edu	37	chr18	8825115	8825115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcctgccgtgcgcagggtcGacagcatcacggcggcaggt	16	14	1	0	rs115256052	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:8825115G>A	uc002knr.2	+	15	3749	c.3607G>A	c.(3607-3609)GAC>AAC	p.D1203N	KIAA0802_uc002knq.2_Missense_Mutation_p.D1162N|KIAA0802_uc002kns.2_Missense_Mutation_p.D543N	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1513											0						GCGCAGGGTCGACAGCATCAC	0.672													A	8825115	G	A	8825115	3	1	283	1	0	0	0	0	1	0	0	0	8194	1058	37	1	3657	1	KIAA0802	18	8825115	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	6087	8825115	69252133	1196	146478											
PSMG2	56984	broad.mit.edu	37	chr18	12718569	12718569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggtgaaaagcagtggCtgtgccagagtcattgttct	13	8	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:12718569C>T	uc002krk.2	+	4	385	c.342C>T	c.(340-342)GGC>GGT	p.G114G	PSMG2_uc002krg.2_Silent_p.G83G|PSMG2_uc002krj.1_Silent_p.G114G	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	114					proteasome assembly	nucleus	protein binding				0						AAAGCAGTGGCTGTGCCAGAG	0.378													T	12718569	C	T	12718569	2	4	283	1	0	0	0	0	0	0	0	1	12712	784	28	2		2	PSMG2	18	12718569	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3893454	12718569	65358679	1197	146479											
MC5R	4161	broad.mit.edu	37	chr18	13826229	13826229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctaccaccacatcatgacGgcgaggcgctcaggggccat	12	15	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:13826229G>A	uc010xaf.1	+	1	465	c.465G>A	c.(463-465)ACG>ACA	p.T155T		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	155	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						ACATCATGACGGCGAGGCGCT	0.572													A	13826229	G	A	13826229	2	1	283	1	0	0	0	0	0	0	0	1	9367	1103	39	1		1	MC5R	18	13826229	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1107660	13826229	64251019	1198	146480											
LAMA3	3909	broad.mit.edu	37	chr18	21451595	21451595	+	Frame_Shift_Del	DEL	C	C	-													gctgtggaaatctgtgcctgCccccctgcctacgctggtga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:21451595delC	uc002kuq.2	+	38	5054	c.4968delC	c.(4966-4968)TGCfs	p.C1656fs	LAMA3_uc002kur.2_Frame_Shift_Del_p.C1656fs|LAMA3_uc002kus.3_5'Flank|LAMA3_uc002kut.3_5'Flank	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1656	Domain III 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			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	TCTGTGCCTGCCCCCCTGCCT	0.572													-	21451595	C	-	21451595	7	5	283	1	0	1	0	1	0	0	0	0	8607	747	26	0	5118	0	LAMA3	18	21451595	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	7625366	21451595	56625653	1199	146481											
LAMA3	3909	broad.mit.edu	37	chr18	21479349	21479349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcccagcgcatgatgagGgaactgcggaacaggaactt	14	9	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:21479349G>T	uc002kuq.2	+	47	6020	c.5934G>T	c.(5932-5934)AGG>AGT	p.R1978S	LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.R369S|LAMA3_uc002kut.3_Intron	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1978	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	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)	GCATGATGAGGGAACTGCGGA	0.493													T	21479349	G	T	21479349	3	4	283	1	0	0	0	0	1	0	0	0	8607	1223	43	5	6295	5	LAMA3	18	21479349	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	27754	21479349	56597899	1200	146482											
ZNF521	25925	broad.mit.edu	37	chr18	22806909	22806909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtccatgtggctgtacaGttcctcaactgtgtggaaac	10	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:22806909G>T	uc002kvk.2	-	4	1220	c.973C>A	c.(973-975)CTG>ATG	p.L325M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L325M|ZNF521_uc002kvl.2_Missense_Mutation_p.L105M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	325	C2H2-type 8.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGCTGTACAGTTCCTCAACT	0.537			T	PAX5	ALL								T	22806909	G	T	22806909	3	4	283	1	0	0	0	0	1	0	0	0	17962	1020	36	5	2982	5	ZNF521	18	22806909	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1327560	22806909	55270339	1201	146483											
DSC3	1825	broad.mit.edu	37	chr18	28602425	28602425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcgtatgcattgtgtcCggttcatctctgtctgtggc	13	10	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:28602425C>T	uc002kwj.3	-	7	974	c.819G>A	c.(817-819)CCG>CCA	p.P273P	DSC3_uc002kwi.3_Silent_p.P273P	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	273	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTGTGTCCGGTTCATCTC	0.438													T	28602425	C	T	28602425	2	4	283	1	0	0	0	0	0	0	0	1	4767	639	23	1		1	DSC3	18	28602425	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5795516	28602425	49474823	1202	146484											
B4GALT6	9331	broad.mit.edu	37	chr18	29218625	29218625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgttcaatgacataaaaCgcaaattccagccgctgctt	6	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:29218625C>T	uc002kwz.3	-	5	867	c.570G>A	c.(568-570)GCG>GCA	p.A190A	B4GALT6_uc010dma.2_Silent_p.A151A|B4GALT6_uc010dmb.2_Intron	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	190	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGACATAAAACGCAAATTCCA	0.363													T	29218625	C	T	29218625	2	4	283	1	0	0	0	0	0	0	0	1	1275	523	19	1		1	B4GALT6	18	29218625	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	616200	29218625	48858623	1203	146485											
FHOD3	80206	broad.mit.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-													gcgatgagaccacggagccaCcccccagtgggtgccgggac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				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)				CCACGGAGCCACCCCCCAGTG	0.677													-	34205516	C	-	34205516	7	5	283	1	0	1	0	1	0	0	0	0	5883	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	4986891	34205516	43871732	1204	146486											
FHOD3	80206	broad.mit.edu	37	chr18	34320643	34320643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctaacgatgattcccaccGatgaggagaagcagaaaatc	9	9	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:34320643G>A	uc002kzt.1	+	17	3122	c.3025G>A	c.(3025-3027)GAT>AAT	p.D1009N	FHOD3_uc002kzs.1_Missense_Mutation_p.D1026N|FHOD3_uc010dmz.1_Missense_Mutation_p.D741N|FHOD3_uc010dnb.1_Missense_Mutation_p.D5N	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1009	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTCCCACCGATGAGGAGAA	0.473													A	34320643	G	A	34320643	3	1	283	1	0	0	0	0	1	0	0	0	5883	1058	37	1	3146	1	FHOD3	18	34320643	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	115127	34320643	43756605	1205	146487											
SETBP1	26040	broad.mit.edu	37	chr18	42532361	42532361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagtcaaagaagaagcGtggtaggcctgcaaaaacca	11	8	1	3	rs140544874		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:42532361G>A	uc010dni.2	+	4	3352	c.3056G>A	c.(3055-3057)CGT>CAT	p.R1019H		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1019	A.T hook 2.					nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGAAGAAGCGTGGTAGGCCT	0.438									Schinzel-Giedion_syndrome				A	42532361	G	A	42532361	3	1	283	1	0	0	0	0	1	0	0	0	14129	1145	40	1	3259	1	SETBP1	18	42532361	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8211718	42532361	35544887	1206	146488											
SLC14A2	8170	broad.mit.edu	37	chr18	43205722	43205722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggagtaaaaggaaagaCgacggggtggcccatcggga	17	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:43205722C>T	uc010dnj.2	+	4	546	c.225C>T	c.(223-225)GAC>GAT	p.D75D	SLC14A2_uc002lbb.2_Silent_p.D75D|SLC14A2_uc002lbe.2_Silent_p.D75D	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	75						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						AAAGGAAAGACGACGGGGTGG	0.517													T	43205722	C	T	43205722	2	4	283	1	0	0	0	0	0	0	0	1	14397	535	19	1		1	SLC14A2	18	43205722	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	673361	43205722	34871526	1207	146489											
KIAA1632	57724	broad.mit.edu	37	chr18	43435571	43435571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcagatgtaattcagaGccaggcctcaaacggatctg	13	9	4	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:43435571G>A	uc002lbm.2	-	43	7624	c.7524C>T	c.(7522-7524)GGC>GGT	p.G2508G		NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2508					autophagy						0						GTAATTCAGAGCCAGGCCTCA	0.512													A	43435571	G	A	43435571	2	1	283	1	0	0	0	0	0	0	0	1	8249	958	34	2		2	KIAA1632	18	43435571	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	229849	43435571	34641677	1208	146490											
CXXC1	30827	broad.mit.edu	37	chr18	47810449	47810449	+	Frame_Shift_Del	DEL	G	G	-													ctgccactgctggatgcgctGggggaggatctcgtagatgc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:47810449delG	uc002leq.3	-	10	1961	c.1228delC	c.(1228-1230)CAGfs	p.Q410fs	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Frame_Shift_Del_p.Q267fs|CXXC1_uc002ler.3_Frame_Shift_Del_p.Q414fs|CXXC1_uc010doy.2_Frame_Shift_Del_p.Q410fs|CXXC1_uc002les.2_Frame_Shift_Del_p.Q410fs	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	410					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			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATGCGCTGGGGGAGGATC	0.557													-	47810449	G	-	47810449	7	5	283	1	0	1	0	1	0	0	0	0	4097	1357	47	0	766	0	CXXC1	18	47810449	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	4374878	47810449	30266799	1209	146491											
ALPK2	115701	broad.mit.edu	37	chr18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-													cttcgtcatcgctttctaatAaaaaaacatgctcagtcccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:56246941delA	uc002lhj.3	-	4	1281	c.1067delT	c.(1066-1068)TTAfs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	356							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56246941	A	-	56246941	7	5	283	1	0	1	0	1	0	0	0	0	545	372	13	0	5485	0	ALPK2	18	56246941	Frame_Shift_Del	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	8436492	56246941	21830307	1210	146492											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013286	+	Splice_Site	INS	-	-	T													ttctttatctggtgtgggctINStttttttggagttttggaat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum 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)	CTGGTGTGGGCTTTTTTTTGGA	0.297													T	57013286	-	T	57013285	8	5	283	1	0	1	1	0	0	0	1	0	8836	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	766344	57013285	21063963	1211	146493											
SERPINB8	5271	broad.mit.edu	37	chr18	61652327	61652328	+	Frame_Shift_Ins	INS	-	-	A													actttaatttttccgttaggINSaaaaaaagacagtgcagatg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:61652327_61652328insA	uc002ljv.2	+	6	737_738	c.568_569insA	c.(568-570)GAAfs	p.E190fs	SERPINB8_uc002ljt.2_Frame_Shift_Ins_p.E190fs|SERPINB8_uc002lju.2_Frame_Shift_Ins_p.E190fs|SERPINB8_uc010xex.1_Frame_Shift_Ins_p.E8fs	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGACA	0.376													A	61652328	-	A	61652327	7	5	283	1	0	1	1	0	0	0	0	0	14107	1188	41	0	586	0	SERPINB8	18	61652327	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	4639042	61652327	16424921	1212	146494	779	2									
SERPINB8	5271	broad.mit.edu	37	chr18	61652328	61652329	+	Splice_Site	INS	-	-	A													ctttaatttttccgttaggaINSaaaaaagacagtgcagatga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:61652327_61652328G>GA	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					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)				TTTCCGTTAGGAAAAAAAGACA	0.376													A	61652329	-	A	61652328	8	5	283	1	0	1	1	0	0	0	1	0	14107	260	9	0	587	0	SERPINB8	18	61652328	Splice_Site	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	61652328	16424920	1213	146495	779	2									
CNDP1	84735	broad.mit.edu	37	chr18	72228119	72228119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagagtcttccaatacCtcccatcatcctggccgaac	7	15	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:72228119C>A	uc002llq.2	+	4	543	c.332C>A	c.(331-333)CCT>CAT	p.P111H	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	111					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTTCCAATACCTCCCATCATC	0.527													A	72228119	C	A	72228119	3	1	283	1	0	0	0	0	1	0	0	0	3593	681	24	5	346	5	CNDP1	18	72228119	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10575791	72228119	5849129	1214	146496											
TSHZ1	10194	broad.mit.edu	37	chr18	72998924	72998924	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcaaggaggagagtgAggacagcttggagaaatttg	16	3	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:72998924A>C	uc002lly.2	+	2	1990	c.1427A>C	c.(1426-1428)GAG>GCG	p.E476A		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	521						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		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)		GAGGAGAGTGAGGACAGCTTG	0.592													C	72998924	A	C	72998924	3	2	283	1	0	0	0	0	1	0	0	0	16620	304	11	5	1429	5	TSHZ1	18	72998924	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	770805	72998924	5078324	1215	146497											
ZNF236	7776	broad.mit.edu	37	chr18	74639295	74639295	+	Frame_Shift_Del	DEL	G	G	-													ctattggctcagcagctcacGggggagcctggcctggcccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:74639295delG	uc002lmi.2	+	24	4428	c.4230delG	c.(4228-4230)ACGfs	p.T1410fs	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		AGCAGCTCACGGGGGAGCCTG	0.552													-	74639295	G	-	74639295	7	5	283	1	0	1	0	1	0	0	0	0	17786	1103	39	0	4324	0	ZNF236	18	74639295	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1640371	74639295	3437953	1216	146498											
ZNF236	7776	broad.mit.edu	37	chr18	74672689	74672689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttcaaccagaagagtgCgctgcaggtgcacatgaaga	12	10	1	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:74672689C>T	uc002lmi.2	+	30	5489	c.5291C>T	c.(5290-5292)GCG>GTG	p.A1764V	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1764	C2H2-type 29.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		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)		CAGAAGAGTGCGCTGCAGGTG	0.517													T	74672689	C	T	74672689	3	4	283	1	0	0	0	0	1	0	0	0	17786	768	27	1	5409	1	ZNF236	18	74672689	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	33394	74672689	3404559	1217	146499											
SALL3	27164	broad.mit.edu	37	chr18	76755399	76755399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatgagcgcacgcacacCggcgagaagccgttcggctg	13	14	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:76755399C>T	uc002lmt.2	+	2	3408	c.3408C>T	c.(3406-3408)ACC>ACT	p.T1136T	SALL3_uc010dra.2_Silent_p.T671T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		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)		GCACGCACACCGGCGAGAAGC	0.687													T	76755399	C	T	76755399	2	4	283	1	0	0	0	0	0	0	0	1	13812	639	23	1		1	SALL3	18	76755399	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2082710	76755399	1321849	1218	146500											
NFATC1	4772	broad.mit.edu	37	chr18	77227522	77227522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttcacgtcagtttctacGtctgcaacgggaagagaaag	11	10	4	1	rs143006140		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:77227522G>A	uc010xfg.1	+	8	2485	c.2032G>A	c.(2032-2034)GTC>ATC	p.V678I	NFATC1_uc002lnc.1_Missense_Mutation_p.V678I|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.2_Missense_Mutation_p.V678I|NFATC1_uc002lne.2_Missense_Mutation_p.V206I|NFATC1_uc010xfh.1_Missense_Mutation_p.V678I|NFATC1_uc010xfi.1_Missense_Mutation_p.V665I|NFATC1_uc010xfj.1_Missense_Mutation_p.V206I|NFATC1_uc002lnf.2_Missense_Mutation_p.V665I|NFATC1_uc002lng.2_Missense_Mutation_p.V665I|NFATC1_uc010xfk.1_Missense_Mutation_p.V665I	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	678					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			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGTTTCTACGTCTGCAACGG	0.537													A	77227522	G	A	77227522	3	1	283	1	0	0	0	0	1	0	0	0	10361	1145	40	1	2154	1	NFATC1	18	77227522	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	472123	77227522	849726	1219	146501											
KCNG2	26251	broad.mit.edu	37	chr18	77623865	77623865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgactacgacgtgagccgCgacgagttcttcttcgaccg	12	13	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr18:77623865C>T	uc010xfl.1	+	1	198	c.198C>T	c.(196-198)CGC>CGT	p.R66R		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	66	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ACGTGAGCCGCGACGAGTTCT	0.741													T	77623865	C	T	77623865	2	4	283	1	0	0	0	0	0	0	0	1	8028	755	27	1		1	KCNG2	18	77623865	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	396343	77623865	453383	1220	146502											
PRSSL1	400668	broad.mit.edu	37	chr19	694872	694872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgcagcaggaagcctcCgcagtgatgttggcccccga	14	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:694872C>T	uc002lpl.1	-	2	209	c.178G>A	c.(178-180)GGA>AGA	p.G60R	PRSSL1_uc010xfs.1_Missense_Mutation_p.G59R	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|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)		AGGAAGCCTCCGCAGTGATGT	0.677													T	694872	C	T	694872	3	4	283	1	0	0	0	0	1	0	0	0	12636	661	23	1	689	1	PRSSL1	19	694872	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		694872	58434111	1221	146503											
LPPR3	79948	broad.mit.edu	37	chr19	813534	813534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgcgaggcgtccagcGgcacgtggatggtcatgtgg	19	9	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:813534G>A	uc002lpx.1	-	8	1257	c.1193C>T	c.(1192-1194)CCG>CTG	p.P398L	LPPR3_uc010dru.1_Missense_Mutation_p.P310L|LPPR3_uc002lpw.1_Missense_Mutation_p.P426L|LPPR3_uc002lpy.1_Missense_Mutation_p.P179L|hsa-mir-3187|MI0014231_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	398						integral to membrane	phosphatidate phosphatase activity				0						GGCGTCCAGCGGCACGTGGAT	0.711													A	813534	G	A	813534	3	1	283	1	0	0	0	0	1	0	0	0	8926	1116	39	1	967	1	LPPR3	19	813534	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	118662	813534	58315449	1222	146504											
HMHA1	23526	broad.mit.edu	37	chr19	1081929	1081929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcctcgccccacgacaTcagcaacgtcctcaagctct	8	18	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1081929T>C	uc002lqz.1	+	19	2717	c.2486T>C	c.(2485-2487)ATC>ACC	p.I829T	HMHA1_uc010xgd.1_Missense_Mutation_p.I845T|HMHA1_uc010xge.1_Missense_Mutation_p.I697T|HMHA1_uc002lra.1_Missense_Mutation_p.I669T|HMHA1_uc002lrb.1_Missense_Mutation_p.I712T|HMHA1_uc002lrc.1_Missense_Mutation_p.I464T|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	829	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		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)		CCCCACGACATCAGCAACGTC	0.527													C	1081929	T	C	1081929	3	2	283	1	0	0	0	0	1	0	0	0	7240	1435	50	3	2560	3	HMHA1	19	1081929	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	268395	1081929	58047054	1223	146505											
MIDN	90007	broad.mit.edu	37	chr19	1257161	1257161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgacagcagtagcagcGggggcggcggcagccccagc	18	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1257161G>A	uc002lrp.2	+	8	1812	c.1297G>A	c.(1297-1299)GGG>AGG	p.G433R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	433						nucleolus					0		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)		CAGTAGCAGCGGGGGCGGCGG	0.682													A	1257161	G	A	1257161	3	1	283	1	0	0	0	0	1	0	0	0	9579	1116	39	1	1323	1	MIDN	19	1257161	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	175232	1257161	57871822	1224	146506											
CIRBP	1153	broad.mit.edu	37	chr19	1271433	1271433	+	Frame_Shift_Del	DEL	G	G	-													ggggccggggcttcttccgtGggggccgaggacggggccgt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1271433delG	uc002lrr.3	+	4	465	c.316delG	c.(316-318)GGGfs	p.G106fs	C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Frame_Shift_Del_p.G95fs|CIRBP_uc002lrt.2_Frame_Shift_Del_p.G106fs|CIRBP_uc010xgl.1_Intron|CIRBP_uc002lrv.3_Frame_Shift_Del_p.G106fs|CIRBP_uc002lru.2_RNA	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	106	Gly-rich.				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				0		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)		CTTCTTCCGTGGGGGCCGAGG	0.642													-	1271433	G	-	1271433	7	5	283	1	0	1	0	1	0	0	0	0	3433	1348	47	0	326	0	CIRBP	19	1271433	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	14272	1271433	57857550	1225	146507											
NDUFS7	374291	broad.mit.edu	37	chr19	1390983	1390983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcttccgcgccagcccGcgccagtccgacgtcatgat	12	16	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1390983G>A	uc002lse.3	+	5	385	c.342G>A	c.(340-342)CCG>CCA	p.P114P	NDUFS7_uc002lsf.2_Silent_p.P178P|NDUFS7_uc002lsh.2_Silent_p.P178P|NDUFS7_uc002lsg.2_Silent_p.P121P	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	114					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	GCGCCAGCCCGCGCCAGTCCG	0.682													A	1390983	G	A	1390983	2	1	283	1	0	0	0	0	0	0	0	1	10297	1074	38	1		1	NDUFS7	19	1390983	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	119550	1390983	57738000	1226	146508											
MEX3D	399664	broad.mit.edu	37	chr19	1556759	1556759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccccggccttgctgcgCgtggcgcggatgatggagaa	16	12	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1556759C>T	uc010dsn.2	-	2	759	c.759G>A	c.(757-759)ACG>ACA	p.T253T		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	253					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			lung(1)	1		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)		CCTTGCTGCGCGTGGCGCGGA	0.706													T	1556759	C	T	1556759	2	4	283	1	0	0	0	0	0	0	0	1	9512	755	27	1		1	MEX3D	19	1556759	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	165776	1556759	57572224	1227	146509											
REXO1	57455	broad.mit.edu	37	chr19	1826907	1826907	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccggcctctgtcctccgtCttgacgctggtggactcgtt	12	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1826907C>T	uc002lua.3	-	2	1976	c.1881G>A	c.(1879-1881)AAG>AAA	p.K627K	REXO1_uc010dsr.1_Silent_p.K581K	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	627						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		TGTCCTCCGTCTTGACGCTGG	0.672													T	1826907	C	T	1826907	2	4	283	1	0	0	0	0	0	0	0	1	13241	912	32	4		4	REXO1	19	1826907	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	270148	1826907	57302076	1228	146510											
REXO1	57455	broad.mit.edu	37	chr19	1827647	1827647	+	Frame_Shift_Del	DEL	T	T	-													gggggcaggtggggccccggTttttttcttcttgggttttc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1827647delT	uc002lua.3	-	2	1236	c.1141delA	c.(1141-1143)ACCfs	p.T381fs	REXO1_uc010dsr.1_Frame_Shift_Del_p.T335fs	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	381						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		GGGGCCCCGGTTTTTTTCTTC	0.682													-	1827647	T	-	1827647	7	5	283	1	0	1	0	1	0	0	0	0	13241	1725	60	0	2584	0	REXO1	19	1827647	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	740	1827647	57301336	1229	146511											
KLF16	83855	broad.mit.edu	37	chr19	1854671	1854671	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggagaagcgcttctcgccCgtgtgcgtccggtggtggcg	17	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:1854671C>A	uc002luc.2	-	2	614	c.546G>T	c.(544-546)ACG>ACT	p.T182T	KLF16_uc010xgt.1_RNA	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	BTE-binding protein 4	182						nucleus	DNA binding|zinc ion binding				0		Ovarian(11;1.78e-06)|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)		GCTTCTCGCCCGTGTGCGTCC	0.692													A	1854671	C	A	1854671	2	1	283	1	0	0	0	0	0	0	0	1	8344	639	23	5		5	KLF16	19	1854671	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	27024	1854671	57274312	1230	146512											
SF3A2	8175	broad.mit.edu	37	chr19	2246901	2246901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgactaccctgagatcgcCgagggcatcatgccacgtca	10	13	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2246901C>T	uc002lvg.2	+	7	548	c.426C>T	c.(424-426)GCC>GCT	p.A142A	AMH_uc002lvh.2_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	142					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				0		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)		CTGAGATCGCCGAGGGCATCA	0.667													T	2246901	C	T	2246901	2	4	283	1	0	0	0	0	0	0	0	1	14147	639	23	1		1	SF3A2	19	2246901	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	392230	2246901	56882082	1231	146513											
JSRP1	126306	broad.mit.edu	37	chr19	2252349	2252349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccgccccttgcctgcGcggagcttctggcgactccc	11	19	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2252349G>A	uc002lvi.1	-	6	1010	c.975C>T	c.(973-975)CGC>CGT	p.R325R	JSRP1_uc002lvj.1_Silent_p.R325R	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	325	Arg-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1				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)		CCTTGCCTGCGCGGAGCTTCT	0.731													A	2252349	G	A	2252349	2	1	283	1	0	0	0	0	0	0	0	1	7966	1074	38	1		1	JSRP1	19	2252349	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5448	2252349	56876634	1232	146514											
C19orf35	374872	broad.mit.edu	37	chr19	2280892	2280892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaccaggtggggttgtcGggctcggggggctctgtggg	22	8	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2280892G>A	uc002lvn.2	-	2	139	c.39C>T	c.(37-39)CCC>CCT	p.P13P	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	hypothetical protein LOC374872	13										pancreas(1)	1				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)		TGGGGTTGTCGGGCTCGGGGG	0.607													A	2280892	G	A	2280892	2	1	283	1	0	0	0	0	0	0	0	1	1920	1103	39	1		1	C19orf35	19	2280892	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	28543	2280892	56848091	1233	146515											
ZNF57	126295	broad.mit.edu	37	chr19	2916959	2916959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctgtacacataatgaaGgtaatcaatatggagaagcc	9	6	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:2916959G>T	uc002lwr.2	+	4	488	c.340G>T	c.(340-342)GGT>TGT	p.G114C	ZNF57_uc010xha.1_Missense_Mutation_p.G82C	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)		ACATAATGAAGGTAATCAATA	0.363													T	2916959	G	T	2916959	3	4	283	1	0	0	0	0	1	0	0	0	17998	1000	35	5	354	5	ZNF57	19	2916959	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	636067	2916959	56212024	1234	146516											
NCLN	56926	broad.mit.edu	37	chr19	3207221	3207221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagtttgtcttctacgacCagctgaagcaagtgatgaat	10	8	2	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:3207221C>A	uc002lxi.2	+	13	1679	c.1525C>A	c.(1525-1527)CAG>AAG	p.Q509K	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Missense_Mutation_p.Q153K	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	509	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		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)		CTTCTACGACCAGCTGAAGCA	0.577													A	3207221	C	A	3207221	3	1	283	1	0	0	0	0	1	0	0	0	10227	595	21	5	1575	5	NCLN	19	3207221	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	290262	3207221	55921762	1235	146517											
PIP5K1C	23396	broad.mit.edu	37	chr19	3648643	3648645	+	In_Frame_Del	DEL	GAT	GAT	-													ctgtaggactgcaggatgtcGatgatgccaatgtgcagcag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:3648642_3648644CGAT>C	uc002lyj.2	-	8	1279_1281	c.1190_1192ATCG>G	c.(1189-1194)atcgac>aGac	p.397_398ID>R	PIP5K1C_uc010xhq.2_In_Frame_Del_p.397_398ID>R|PIP5K1C_uc010xhr.2_In_Frame_Del_p.397_398ID>R	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	397	PIPK.				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)		TGCAGGATGTCGATGATGCCAAT	0.69													-	3648645	GAT	-	3648643	7	5	283	1	0	1	0	1	0	0	0	0	11941	1048	37	0	855	0	PIP5K1C	19	3648643	In_Frame_Del	DEL	GAT	TCGA-HU-A4H8-01A-11D-A25D-08	441422	3648643	55480340	1236	146518											
PIAS4	51588	broad.mit.edu	37	chr19	4037447	4037447	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggacggctcgtggtgcccGatccgcgccgaaaaggagcg	17	12	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:4037447G>A	uc002lzg.2	+	10	1228	c.1218G>A	c.(1216-1218)CCG>CCA	p.P406P		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	406					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			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTGCCCGATCCGCGCCG	0.701													A	4037447	G	A	4037447	2	1	283	1	0	0	0	0	0	0	0	1	11878	1045	37	1		1	PIAS4	19	4037447	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	388804	4037447	55091536	1237	146519											
SH3GL1	6455	broad.mit.edu	37	chr19	4362734	4362734	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggaagcttcccgcatcCtgtgaagggagaggcgtgag	17	8	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:4362734C>A	uc002maj.2	-	8	835	c.729_splice	c.e8-1	p.R243_splice	SH3GL1_uc002mak.2_Splice_Site_p.R179_splice|SH3GL1_uc010xig.1_Splice_Site_p.R195_splice	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTCCCGCATCCTGTGAAGGGA	0.627			T	MLL	AL								A	4362734	C	A	4362734	5	1	283	1	0	0	0	0	0	0	1	0	14250	695	24	5	390	5	SH3GL1	19	4362734	Splice_Site	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	325287	4362734	54766249	1238	146520											
UBXN6	80700	broad.mit.edu	37	chr19	4446528	4446528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgcttgatctcctctgCtgtgaggttgaagaagtccc	10	13	2	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:4446528C>T	uc002man.1	-	8	985	c.889G>A	c.(889-891)GCA>ACA	p.A297T	UBXN6_uc010dty.1_Missense_Mutation_p.A201T|UBXN6_uc002mam.1_Missense_Mutation_p.A244T	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	297						microtubule organizing center|nucleus	protein binding				0						ATCTCCTCTGCTGTGAGGTTG	0.697													T	4446528	C	T	4446528	3	4	283	1	0	0	0	0	1	0	0	0	16914	797	28	2	452	2	UBXN6	19	4446528	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	83794	4446528	54682455	1239	146521											
ARHGEF18	23370	broad.mit.edu	37	chr19	7534893	7534893	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctatcctgcccggcagAcacagtcctgcgcccccacc	8	21	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7534893A>G	uc002mgi.2	+	18	3580	c.3327A>G	c.(3325-3327)AGA>AGG	p.R1109R	ARHGEF18_uc010xjm.1_Silent_p.R951R|ARHGEF18_uc002mgh.2_Silent_p.R951R|ARHGEF18_uc002mgj.1_Silent_p.R746R	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	1109	Pro-rich.				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			ovary(1)	1		Renal(5;0.0902)				TGCCCGGCAGACACAGTCCTG	0.667													G	7534893	A	G	7534893	2	3	283	1	0	0	0	0	0	0	0	1	901	272	10	3		3	ARHGEF18	19	7534893	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	3088365	7534893	51594090	1240	146522											
XAB2	56949	broad.mit.edu	37	chr19	7692180	7692180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaggcagtgggtgtgaGcgcaggaagcgcagatacag	17	8	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7692180G>A	uc002mgx.2	-	4	497	c.471C>T	c.(469-471)CGC>CGT	p.R157R	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	157	HAT 4.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTGGGTGTGAGCGCAGGAAGC	0.637								Direct_reversal_of_damage|NER					A	7692180	G	A	7692180	2	1	283	1	0	0	0	0	0	0	0	1	17415	958	34	2		2	XAB2	19	7692180	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	157287	7692180	51436803	1241	146523											
LRRC8E	80131	broad.mit.edu	37	chr19	7963908	7963908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccaccagggccctatcCgaggtatccggggagaacca	13	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7963908C>T	uc002mir.2	+	3	602	c.501C>T	c.(499-501)TCC>TCT	p.S167S		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	167						integral to membrane				lung(1)|pancreas(1)	2						GGGCCCTATCCGAGGTATCCG	0.622													T	7963908	C	T	7963908	2	4	283	1	0	0	0	0	0	0	0	1	9025	639	23	1		1	LRRC8E	19	7963908	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	271728	7963908	51165075	1242	146524											
SNAPC2	6618	broad.mit.edu	37	chr19	7987213	7987213	+	Frame_Shift_Del	DEL	C	C	-													gtctcccgaagtggccgcagCcccgagctctcagcagctgg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:7987213delC	uc002miw.1	+	4	689	c.666delC	c.(664-666)AGCfs	p.S222fs	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	222					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						GTGGCCGCAGCCCCGAGCTCT	0.602													-	7987213	C	-	7987213	7	5	283	1	0	1	0	1	0	0	0	0	14835	738	26	0	680	0	SNAPC2	19	7987213	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	23305	7987213	51141770	1243	146525											
ADAMTS10	81794	broad.mit.edu	37	chr19	8666009	8666009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgcagccaccatggccGccctttccacggtttctcat	9	17	1	0	rs147270233		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:8666009G>A	uc002mkj.1	-	6	887	c.613C>T	c.(613-615)CGG>TGG	p.R205W	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	205					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CACCATGGCCGCCCTTTCCAC	0.622													A	8666009	G	A	8666009	3	1	283	1	0	0	0	0	1	0	0	0	256	1086	38	1	2782	1	ADAMTS10	19	8666009	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	678796	8666009	50462974	1244	146526											
MUC16	94025	broad.mit.edu	37	chr19	9049263	9049263	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattgaggtcaccaaccgtgAtacagcaggcgagatagttg	12	9	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9049263A>T	uc002mkp.2	-	5	32572	c.32368T>A	c.(32368-32370)TCA>ACA	p.S10790T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10792	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACCAACCGTGATACAGCAGGC	0.488													T	9049263	A	T	9049263	3	4	283	1	0	0	0	0	1	0	0	0	9973	333	12	5	11475	5	MUC16	19	9049263	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	383254	9049263	50079720	1245	146527											
MUC16	94025	broad.mit.edu	37	chr19	9059156	9059157	+	Frame_Shift_Ins	INS	-	-	T													ccagggaagatggagggctgINStttttttccacagacagcgg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9059156_9059157insT	uc002mkp.2	-	3	28493_28494	c.28289_28290insA	c.(28288-28290)AACfs	p.N9430fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9432	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ATGGAGGGCTGTTTTTTTCCAC	0.51													T	9059157	-	T	9059156	7	5	283	1	0	1	1	0	0	0	0	0	9973	1368	48	0	15561	0	MUC16	19	9059156	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	9893	9059156	50069827	1246	146528	780	2									
MUC16	94025	broad.mit.edu	37	chr19	9059157	9059158	+	Frame_Shift_Ins	INS	-	-	T													cagggaagatggagggctgtINSttttttccacagacagcggg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9059156_9059157G>GT	uc002mkp.3	-	2	28493_28494	c.28289_28290C>AC	c.(28288-28290)aacfs	p.N9430fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9432	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						ATGGAGGGCTGTTTTTTTCCAC	0.51													T	9059158	-	T	9059157	7	5	283	1	0	1	1	0	0	0	0	0	9973	1725	60	0	15562	0	MUC16	19	9059157	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	9059157	50069826	1247	146529	780	2									
MUC16	94025	broad.mit.edu	37	chr19	9076020	9076020	+	Frame_Shift_Del	DEL	T	T	-													gagtggaagtctgctctgccTttttgcttgtgggatctggt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:9076019_9076019CT>C	uc002mkp.3	-	2	11631	c.11427_11427AG>G	c.(11425-11427)aagfs	p.K3809fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3810	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						TCTGCTCTGCCTTTTTGCTTG	0.522													-	9076020	T	-	9076020	7	5	283	1	0	1	0	1	0	0	0	0	9973	1609	56	0	32425	0	MUC16	19	9076020	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	16863	9076020	50052963	1248	146530											
ICAM1	3383	broad.mit.edu	37	chr19	10395521	10395521	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccagaaaattcccagCagactccaatgtgccaggct	10	13	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:10395521C>T	uc002mnq.2	+	6	1562	c.1243C>T	c.(1243-1245)CAG>TAG	p.Q415*	ICAM1_uc010xle.1_Nonsense_Mutation_p.Q193*|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	415	Extracellular (Potential).|Ig-like C2-type 5.				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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AAATTCCCAGCAGACTCCAAT	0.567													T	10395521	C	T	10395521	4	4	283	1	0	0	0	0	0	1	0	0	7479	711	25	2	1265	2	ICAM1	19	10395521	Nonsense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1319501	10395521	48733462	1249	146531											
SMARCA4	6597	broad.mit.edu	37	chr19	11138594	11138594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatggaagattactttgCgtatcgcggctttaaatacc	8	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11138594C>T	uc002mqf.3	+	24	3634	c.3350C>T	c.(3349-3351)GCG>GTG	p.A1117V	SMARCA4_uc010dxp.2_Missense_Mutation_p.A1117V|SMARCA4_uc010dxo.2_Missense_Mutation_p.A1117V|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1117V|SMARCA4_uc010dxq.2_Missense_Mutation_p.A1117V|SMARCA4_uc010dxr.2_Missense_Mutation_p.A1117V|SMARCA4_uc002mqj.3_Missense_Mutation_p.A1117V|SMARCA4_uc010dxs.2_Missense_Mutation_p.A1117V|SMARCA4_uc010dxt.1_Missense_Mutation_p.A337V|SMARCA4_uc002mqh.3_Missense_Mutation_p.A240V|SMARCA4_uc002mqi.1_Missense_Mutation_p.A320V	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1117	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.?(2)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATTACTTTGCGTATCGCGGC	0.478			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11138594	C	T	11138594	3	4	283	1	0	0	0	0	1	0	0	0	14770	768	27	1	3440	1	SMARCA4	19	11138594	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	743073	11138594	47990389	1250	146532											
SMARCA4	6597	broad.mit.edu	37	chr19	11143993	11143993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgcaggaccgagcccacCgcatcgggcagcagaacgag	14	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11143993C>T	uc002mqf.3	+	26	3858	c.3574C>T	c.(3574-3576)CGC>TGC	p.R1192C	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1192C|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1192C|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1192C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R412C|SMARCA4_uc002mqh.3_Missense_Mutation_p.R315C|SMARCA4_uc002mqi.1_Missense_Mutation_p.R395C	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1192	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			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				T	11143993	C	T	11143993	3	4	283	1	0	0	0	0	1	0	0	0	14770	652	23	1	3672	1	SMARCA4	19	11143993	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5399	11143993	47984990	1251	146533											
LDLR	3949	broad.mit.edu	37	chr19	11223968	11223968	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggctccatcgcctacCtcttcttcaccaaccggcac	5	21	3	0	rs146200173		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11223968C>A	uc002mqk.3	+	9	1369	c.1201C>A	c.(1201-1203)CTC>ATC	p.L401I	LDLR_uc010xlk.1_Missense_Mutation_p.L401I|LDLR_uc010xll.1_Missense_Mutation_p.L360I|LDLR_uc010xlm.1_Missense_Mutation_p.L254I|LDLR_uc010xln.1_Missense_Mutation_p.L274I|LDLR_uc010xlo.1_Missense_Mutation_p.L233I	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	401	LDL-receptor class B 1.|Extracellular (Potential).		L -> H (in Pori).|L -> V (in FH).		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			ovary(2)|skin(2)	4		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)	CATCGCCTACCTCTTCTTCAC	0.632													A	11223968	C	A	11223968	3	1	283	1	0	0	0	0	1	0	0	0	8704	681	24	5	1235	5	LDLR	19	11223968	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	79975	11223968	47905015	1252	146534											
ECSIT	51295	broad.mit.edu	37	chr19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-													cttacctacgatgtggggctGggggggatctgctgcacctg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11618820_11618820TG>T	uc002msb.3	-	4	916	c.782_782CA>A	c.(781-783)cagfs	p.Q261fs	ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Frame_Shift_Del_p.Q261fs|ECSIT_uc010dyd.3_Frame_Shift_Del_p.Q261fs|ECSIT_uc010xma.2_Frame_Shift_Del_p.Q47fs	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261					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						GATGTGGGGCTGGGGGGGATC	0.582													-	11618821	G	-	11618821	7	5	283	1	0	1	0	1	0	0	0	0	4900	1357	47	0	530	0	ECSIT	19	11618821	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	394853	11618821	47510162	1253	146535											
ACP5	54	broad.mit.edu	37	chr19	11686047	11686047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcagcacgtagcccacGccattctcatcttgcaggta	7	16	3	0	rs139096747		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:11686047G>A	uc002msg.3	-	5	902	c.756C>T	c.(754-756)GGC>GGT	p.G252G	uc002msf.2_Intron|ACP5_uc002msh.3_Silent_p.G252G|ACP5_uc002msi.3_Silent_p.G252G|ACP5_uc002msj.3_Silent_p.G252G	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	252					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						CGTAGCCCACGCCATTCTCAT	0.483													A	11686047	G	A	11686047	2	1	283	1	0	0	0	0	0	0	0	1	164	1074	38	1		1	ACP5	19	11686047	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	67226	11686047	47442936	1254	146536											
ZNF20	7568	broad.mit.edu	37	chr19	12244669	12244670	+	Frame_Shift_Ins	INS	-	-	CA													atgacccgtgccaacttctcINScacacacactgctttcacat							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12244669_12244670insCA	uc002mtf.1	-	4	474_475	c.331_332insTG	c.(331-333)GGAfs	p.G111fs	ZNF20_uc002mte.1_Frame_Shift_Ins_p.G76fs|ZNF20_uc002mtg.1_Frame_Shift_Ins_p.G111fs	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	111	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCAACTTCTCCACACACACTG	0.431													CA	12244670	-	CA	12244669	7	5	283	1	0	1	1	0	0	0	0	0	17758	855	30	0	1270	0	ZNF20	19	12244669	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	558622	12244669	46884314	1255	146537	781	2									
ZNF20	7568	broad.mit.edu	37	chr19	12244670	12244671	+	Frame_Shift_Ins	INS	-	-	CA													tgacccgtgccaacttctccINSacacacactgctttcacatg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12244669_12244670C>CCA	uc002mtg.2	-	7	913_914	c.331_332G>TGG	c.(331-333)ggafs	p.G111fs	ZNF20_uc002mte.2_Frame_Shift_Ins_p.G76fs|ZNF20_uc002mtf.2_Frame_Shift_Ins_p.G111fs|ZNF20_uc021upm.1_Frame_Shift_Ins_p.G108fs	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GCCAACTTCTCCACACACACTG	0.431													CA	12244671	-	CA	12244670	7	5	283	1	0	1	1	0	0	0	0	0	17758	603	21	0	1271	0	ZNF20	19	12244670	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1	12244670	46884313	1256	146538	781	2									
ZNF136	7695	broad.mit.edu	37	chr19	12296983	12296983	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaacaccgagggagaaAtctaaggtaatttgtactca	8	8	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12296983A>T	uc002mti.2	+	3	285	c.185A>T	c.(184-186)AAT>ATT	p.N62I	ZNF136_uc010xmh.1_5'UTR	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	62	KRAB.				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			ovary(1)|pancreas(1)	2						CGAGGGAGAAATCTAAGGTAA	0.343													T	12296983	A	T	12296983	3	4	283	1	0	0	0	0	1	0	0	0	17723	101	4	5	195	5	ZNF136	19	12296983	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	52313	12296983	46832000	1257	146539											
ZNF443	10224	broad.mit.edu	37	chr19	12541062	12541062	+	Frame_Shift_Del	DEL	T	T	-													tgggttctctccagtgtgagTttttttccagtgagtctttt							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12541061_12541061GT>G	uc002mtu.3	-	3	2123	c.1925_1925AC>C	c.(1924-1926)actfs	p.T642fs		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	642					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCCAGTGTGAGTTTTTTTCCA	0.403													-	12541062	T	-	12541062	7	5	283	1	0	1	0	1	0	0	0	0	17913	1725	60	0	95	0	ZNF443	19	12541062	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	244079	12541062	46587921	1258	146540											
FBXW9	84261	broad.mit.edu	37	chr19	12800974	12800975	+	Frame_Shift_Ins	INS	-	-	C													tatcagagcccctcgaaggcINScccccccagcccatgagagc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12800973_12800974G>GC	uc010dyx.2	-	5	894_895	c.894_895C>GC	c.(892-897)gggcctfs	p.G298fs	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	308							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624													C	12800975	-	C	12800974	7	5	283	1	0	1	1	0	0	0	0	0	5771	754	26	0		0	FBXW9	19	12800974	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	259912	12800974	46328009	1259	146541											
ASNA1	439	broad.mit.edu	37	chr19	12858848	12858849	+	Frame_Shift_Ins	INS	-	-	G													ctgttaccccatgaggtgcgINSgggggcagacaaggtcaaca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12858847_12858848C>CG	uc002muv.3	+	6	990_991	c.976_977C>CG	c.(976-978)cggfs	p.R326fs		NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	326					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CCATGAGGTGCGGGGGGCAGAC	0.624													G	12858849	-	G	12858848	7	5	283	1	0	1	1	0	0	0	0	0	1047	1116	39	0	1003	0	ASNA1	19	12858848	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	57874	12858848	46270135	1260	146542											
RNASEH2A	10535	broad.mit.edu	37	chr19	12920927	12920927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagagacataccaggcgCggctgcagcaaagttttccc	11	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:12920927C>T	uc002mvg.1	+	5	514	c.454C>T	c.(454-456)CGG>TGG	p.R152W	RNASEH2A_uc002mvf.1_Missense_Mutation_p.R70W	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	152				R -> Q (in Ref. 1; CAB09725).	DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						ATACCAGGCGCGGCTGCAGCA	0.502													T	12920927	C	T	12920927	3	4	283	1	0	0	0	0	1	0	0	0	13412	759	27	1	472	1	RNASEH2A	19	12920927	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	62079	12920927	46208056	1261	146543											
CACNA1A	773	broad.mit.edu	37	chr19	13368180	13368180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcatttttctccaggCtgtattcctccatcatcttg	5	14	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:13368180C>A	uc010dze.2	-	28	4813	c.4577G>T	c.(4576-4578)AGC>ATC	p.S1526I	CACNA1A_uc010xnd.1_Missense_Mutation_p.S231I|CACNA1A_uc002mwx.3_Missense_Mutation_p.S231I|CACNA1A_uc010dzc.2_Missense_Mutation_p.S1051I|CACNA1A_uc002mwy.3_Missense_Mutation_p.S1525I|CACNA1A_uc010xne.1_Missense_Mutation_p.S1054I|CACNA1A_uc002mwv.3_Missense_Mutation_p.S42I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1526	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTCTCCAGGCTGTATTCCTC	0.448													A	13368180	C	A	13368180	3	1	283	1	0	0	0	0	1	0	0	0	2538	797	28	5	3128	5	CACNA1A	19	13368180	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	447253	13368180	45760803	1262	146544											
CACNA1A	773	broad.mit.edu	37	chr19	13387910	13387910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatctcaaaggtaaagacGcctgtaaaaacgtagtcaaa	7	9	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:13387910G>A	uc010dze.2	-	23	4094	c.3858C>T	c.(3856-3858)GGC>GGT	p.G1286G	CACNA1A_uc010xnd.1_5'Flank|CACNA1A_uc002mwx.3_5'Flank|CACNA1A_uc010dzc.2_Silent_p.G811G|CACNA1A_uc002mwy.3_Silent_p.G1285G|CACNA1A_uc010xne.1_Silent_p.G814G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1286	III.|Helical; Name=S2 of repeat III; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGGTAAAGACGCCTGTAAAAA	0.398											OREG0025295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	13387910	G	A	13387910	2	1	283	1	0	0	0	0	0	0	0	1	2538	1074	38	1		1	CACNA1A	19	13387910	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	19730	13387910	45741073	1263	146545											
CACNA1A	773	broad.mit.edu	37	chr19	13616860	13616860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggatggggttgtagagtGccatggtccgcgctctctgc	17	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:13616860G>A	uc010dze.2	-	1	415	c.179C>T	c.(178-180)GCA>GTA	p.A60V	CACNA1A_uc002mwy.3_Missense_Mutation_p.A60V	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	60	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGTAGAGTGCCATGGTCCG	0.627													A	13616860	G	A	13616860	3	1	283	1	0	0	0	0	1	0	0	0	2538	1319	46	2	7643	2	CACNA1A	19	13616860	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	228950	13616860	45512123	1264	146546											
CD97	976	broad.mit.edu	37	chr19	14516664	14516664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggcccatccagggctcGcgcaccaccatacacctgca	10	18	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:14516664G>A	uc002myl.2	+	14	1857	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	CD97_uc002mym.2_Silent_p.S529S|CD97_uc002myn.2_Silent_p.S485S	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	578	Cytoplasmic (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			ovary(3)|breast(1)	4						TCCAGGGCTCGCGCACCACCA	0.642													A	14516664	G	A	14516664	2	1	283	1	0	0	0	0	0	0	0	1	3049	1074	38	1		1	CD97	19	14516664	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	899804	14516664	44612319	1265	146547											
PKN1	5585	broad.mit.edu	37	chr19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-													cctgggaccccagacagccgCccccccttcctgagccgccc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:14562740_14562740GC>G	uc002myp.3	+	6	1238	c.1070_1070GC>G	c.(1069-1071)cgcfs	p.R357fs	PKN1_uc002myq.3_Frame_Shift_Del_p.R363fs	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	357	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	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin 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			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGACAGCCGCCCCCCCTTC	0.672													-	14562741	C	-	14562741	7	5	283	1	0	1	0	1	0	0	0	0	11979	726	26	0	1140	0	PKN1	19	14562741	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	46077	14562741	44566242	1266	146548											
BRD4	23476	broad.mit.edu	37	chr19	15376438	15376438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttggtaccgtggaaacGccaggttttgctgtccctac	12	10	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:15376438G>A	uc002nar.2	-	5	798	c.576C>T	c.(574-576)GGC>GGT	p.G192G	BRD4_uc002nas.2_Silent_p.G192G|BRD4_uc002nat.3_Silent_p.G192G|BRD4_uc002nau.3_Silent_p.G192G	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	192					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			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCGTGGAAACGCCAGGTTTTG	0.562			T	NUT|C15orf55	lethal midline carcinoma of young people								A	15376438	G	A	15376438	2	1	283	1	0	0	0	0	0	0	0	1	1504	1074	38	1		1	BRD4	19	15376438	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	813697	15376438	43752545	1267	146549											
AKAP8	10270	broad.mit.edu	37	chr19	15483836	15483836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccccgtccacccacGtagttcagctcgttccaggg	10	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:15483836G>A	uc002nav.2	-	5	748	c.687C>T	c.(685-687)TAC>TAT	p.Y229Y	AKAP8_uc010dzy.2_Translation_Start_Site|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Silent_p.Y43Y	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	229					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GTCCACCCACGTAGTTCAGCT	0.697													A	15483836	G	A	15483836	2	1	283	1	0	0	0	0	0	0	0	1	457	1140	40	1		1	AKAP8	19	15483836	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	107398	15483836	43645147	1268	146550											
CYP4F3	4051	broad.mit.edu	37	chr19	15760964	15760964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggccaaatccaagactttgGacttcattgatgtactcctg	8	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:15760964G>T	uc002nbj.2	+	7	939	c.889G>T	c.(889-891)GAC>TAC	p.D297Y	CYP4F3_uc010xok.1_Missense_Mutation_p.D297Y|CYP4F3_uc010xol.1_Missense_Mutation_p.D297Y|CYP4F3_uc010xom.1_Missense_Mutation_p.D148Y|CYP4F3_uc002nbk.2_Missense_Mutation_p.D297Y|CYP4F3_uc010xon.1_5'UTR	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	297					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			ovary(3)	3						CAAGACTTTGGACTTCATTGA	0.512													T	15760964	G	T	15760964	3	4	283	1	0	0	0	0	1	0	0	0	4190	1174	41	5	911	5	CYP4F3	19	15760964	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	277128	15760964	43368019	1269	146551											
CYP4F2	8529	broad.mit.edu	37	chr19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggcaggcgtcagcatcCgacggtggcggctccacttg	16	12	1	0	rs140630977		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:16003198C>T	uc002nbs.1	-	5	496	c.446G>A	c.(445-447)CGG>CAG	p.R149Q	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	149					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	p.R149Q(1)		ovary(1)|skin(1)	2						CGTCAGCATCCGACGGTGGCG	0.567													T	16003198	C	T	16003198	3	4	283	1	0	0	0	0	1	0	0	0	4188	652	23	1	1152	1	CYP4F2	19	16003198	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	242234	16003198	43125785	1270	146552											
OR10H4	126541	broad.mit.edu	37	chr19	16060236	16060236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtgctcatgagcccccGtgactgtgcccatcttgtgg	11	13	2	2	rs144850333	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:16060236G>A	uc010xov.1	+	1	419	c.419G>A	c.(418-420)CGT>CAT	p.R140H		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						ATGAGCCCCCGTGACTGTGCC	0.532													A	16060236	G	A	16060236	3	1	283	1	0	0	0	0	1	0	0	0	10908	1145	40	1	421	1	OR10H4	19	16060236	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	57038	16060236	43068747	1271	146553											
F2RL3	9002	broad.mit.edu	37	chr19	17000816	17000816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctggccctggtgcaccCgctgcgggcccgcgccctgc	13	20	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17000816C>T	uc002nfa.2	+	2	717	c.542C>T	c.(541-543)CCG>CTG	p.P181L		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	181	Cytoplasmic (Potential).				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				0						CTGGTGCACCCGCTGCGGGCC	0.716													T	17000816	C	T	17000816	3	4	283	1	0	0	0	0	1	0	0	0	5346	652	23	1	548	1	F2RL3	19	17000816	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	940580	17000816	42128167	1272	146554											
CPAMD8	27151	broad.mit.edu	37	chr19	17057980	17057980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttcttggtcacatggcGtttgccaggatgcccaacaa	9	12	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17057980G>A	uc002nfb.2	-	21	2739	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	856						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GTCACATGGCGTTTGCCAGGA	0.587													A	17057980	G	A	17057980	3	1	283	1	0	0	0	0	1	0	0	0	3795	1145	40	1	3179	1	CPAMD8	19	17057980	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	57164	17057980	42071003	1273	146555											
MYO9B	4650	broad.mit.edu	37	chr19	17313014	17313014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaacctggccactgagCgtggccagaaggacaccaac	11	14	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17313014C>T	uc010eak.2	+	28	4890	c.4738C>T	c.(4738-4740)CGT>TGT	p.R1580C	MYO9B_uc002nfi.2_Missense_Mutation_p.R1580C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1580C|MYO9B_uc002nfl.1_Missense_Mutation_p.R129C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1580	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(1)	1						GGCCACTGAGCGTGGCCAGAA	0.552													T	17313014	C	T	17313014	3	4	283	1	0	0	0	0	1	0	0	0	10085	768	27	1	4844	1	MYO9B	19	17313014	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	255034	17313014	41815969	1274	146556											
ANO8	57719	broad.mit.edu	37	chr19	17438570	17438570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacagcttgaaggcgtcGctgcggatctcaatgaggtt	14	9	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:17438570G>A	uc002ngf.2	-	14	2505	c.2346C>T	c.(2344-2346)AGC>AGT	p.S782S	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	782	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TGAAGGCGTCGCTGCGGATCT	0.647													A	17438570	G	A	17438570	2	1	283	1	0	0	0	0	0	0	0	1	703	1078	38	1		1	ANO8	19	17438570	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	125556	17438570	41690413	1275	146557											
MAST3	23031	broad.mit.edu	37	chr19	18234816	18234816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcccggcgcccggctggCgctggctgatggcgtcttgg	18	15	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18234816C>T	uc002nhz.3	+	8	614	c.614C>T	c.(613-615)GCG>GTG	p.A205V		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	205							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GCCCGGCTGGCGCTGGCTGAT	0.682													T	18234816	C	T	18234816	3	4	283	1	0	0	0	0	1	0	0	0	9326	768	27	1	644	1	MAST3	19	18234816	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	796246	18234816	40894167	1276	146558											
MAST3	23031	broad.mit.edu	37	chr19	18245637	18245637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcccaggtgtgtgggaCgccggagtacatagcccccg	15	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18245637C>T	uc002nhz.3	+	16	1628	c.1628C>T	c.(1627-1629)ACG>ATG	p.T543M		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	543	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						GTGTGTGGGACGCCGGAGTAC	0.662													T	18245637	C	T	18245637	3	4	283	1	0	0	0	0	1	0	0	0	9326	536	19	1	1690	1	MAST3	19	18245637	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10821	18245637	40883346	1277	146559											
KLHL26	55295	broad.mit.edu	37	chr19	18779360	18779360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagtggacgcctgctacCgctacgacccccacctgaat	10	17	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18779360C>T	uc002njz.1	+	3	1180	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	385	Kelch 2.									ovary(1)	1						CGCCTGCTACCGCTACGACCC	0.662													T	18779360	C	T	18779360	3	4	283	1	0	0	0	0	1	0	0	0	8381	652	23	1	1163	1	KLHL26	19	18779360	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	533723	18779360	40349623	1278	146560											
CRTC1	23373	broad.mit.edu	37	chr19	18856697	18856697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatgggctggtggacaGggtgtaccgggagcgtggcc	19	10	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:18856697G>T	uc002nkb.3	+	3	396	c.308G>T	c.(307-309)AGG>ATG	p.R103M	CRTC1_uc010ebv.2_Missense_Mutation_p.R119M|CRTC1_uc010ebw.2_5'Flank|CRTC1_uc002nkc.3_5'Flank	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	103					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)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CTGGTGGACAGGGTGTACCGG	0.642													T	18856697	G	T	18856697	3	4	283	1	0	0	0	0	1	0	0	0	3899	1000	35	5	370	5	CRTC1	19	18856697	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	77337	18856697	40272286	1279	146561											
RFXANK	8625	broad.mit.edu	37	chr19	19308955	19308955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaaagagcgagagagcGccctgtcgctggccagcaca	14	12	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19308955G>A	uc002nls.2	+	7	983	c.478G>A	c.(478-480)GCC>ACC	p.A160T	RFXANK_uc002nlt.2_Missense_Mutation_p.A137T|RFXANK_uc002nlu.2_Missense_Mutation_p.A138T|RFXANK_uc002nlv.2_Missense_Mutation_p.A160T|RFXANK_uc002nlw.2_Missense_Mutation_p.A159T	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	160	ANK 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			GCGAGAGAGCGCCCTGTCGCT	0.602													A	19308955	G	A	19308955	3	1	283	1	0	0	0	0	1	0	0	0	13269	1087	38	1	496	1	RFXANK	19	19308955	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	452258	19308955	39820028	1280	146562											
TM6SF2	53345	broad.mit.edu	37	chr19	19381909	19381909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagacccaggattagggCgctcatcaatgccacccaca	9	14	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19381909C>T	uc002nmd.1	-	2	171	c.121G>A	c.(121-123)GCC>ACC	p.A41T	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	41	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)			AGGATTAGGGCGCTCATCAAT	0.617													T	19381909	C	T	19381909	3	4	283	1	0	0	0	0	1	0	0	0	15970	768	27	1	1048	1	TM6SF2	19	19381909	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	72954	19381909	39747074	1281	146563											
CILP2	148113	broad.mit.edu	37	chr19	19655921	19655921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgatcccgccttcaagcGtaacggcttccgcatcaacc	8	17	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19655921G>A	uc002nmv.3	+	8	2652	c.2567G>A	c.(2566-2568)CGT>CAT	p.R856H	CILP2_uc002nmw.3_Missense_Mutation_p.R862H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	856						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCTTCAAGCGTAACGGCTTC	0.701													A	19655921	G	A	19655921	3	1	283	1	0	0	0	0	1	0	0	0	3430	1145	40	1	2597	1	CILP2	19	19655921	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	274012	19655921	39473062	1282	146564											
ZNF14	7561	broad.mit.edu	37	chr19	19822871	19822871	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagttgtttcgtgttctcGaagggaacttgaaaaactga	12	5	1	3	rs114388860	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:19822871G>A	uc002nnk.1	-	4	1373	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	407	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				TCGTGTTCTCGAAGGGAACTT	0.383													A	19822871	G	A	19822871	4	1	283	1	0	0	0	0	0	1	0	0	17725	1066	37	1	713	1	ZNF14	19	19822871	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	166950	19822871	39306112	1283	146565											
ZNF43	7594	broad.mit.edu	37	chr19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-													agagtttgtatctagtataaTtttttttatgtgtagtaagg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					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)		ATCTAGTATAATTTTTTTTAT	0.348													-	21992087	T	-	21992087	7	5	283	1	0	1	0	1	0	0	0	0	17900	1493	52	0	1681	0	ZNF43	19	21992087	Frame_Shift_Del	DEL	T	TCGA-HU-A4H8-01A-11D-A25D-08	2169216	21992087	37136896	1284	146566											
ZNF43	7594	broad.mit.edu	37	chr19	22002026	22002026	+	Splice_Site	DEL	A	A	-													cataaatgtcaatggtccctAaaaaaaacaacacatacaca							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383													-	22002026	A	-	22002026	8	5	283	1	0	1	0	1	0	0	1	0	17900	377	13	0		0	ZNF43	19	22002026	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	9939	22002026	37126957	1285	146567											
C19orf12	83636	broad.mit.edu	37	chr19	30193641	30193641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatcatactggatctcgGcccgcagctccttggtgacg	11	13	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:30193641G>A	uc002nsk.2	-	3	835	c.404C>T	c.(403-405)GCC>GTC	p.A135V	C19orf12_uc002nsj.2_Missense_Mutation_p.A146V|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	135						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGGATCTCGGCCCGCAGCTC	0.627													A	30193641	G	A	30193641	3	1	283	1	0	0	0	0	1	0	0	0	1909	1203	42	2	25	2	C19orf12	19	30193641	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8191615	30193641	28935342	1286	146568											
ZNF536	9745	broad.mit.edu	37	chr19	31040213	31040213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctttatcccaagcaccGgagaagcagtggcacagcca	9	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:31040213G>A	uc002nsu.1	+	4	3825	c.3687G>A	c.(3685-3687)CCG>CCA	p.P1229P	ZNF536_uc010edd.1_Silent_p.P1229P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CCCAAGCACCGGAGAAGCAGT	0.667													A	31040213	G	A	31040213	2	1	283	1	0	0	0	0	0	0	0	1	17971	1103	39	1		1	ZNF536	19	31040213	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	846572	31040213	28088770	1287	146569											
TSHZ3	57616	broad.mit.edu	37	chr19	31769142	31769142	+	Frame_Shift_Del	DEL	C	C	-													aaggatttgaggatatcaagCccccccttgggactctcttc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:31769142delC	uc002nsy.3	-	2	1622	c.1557delG	c.(1555-1557)GGGfs	p.G519fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	519					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GGATATCAAGCCCCCCCTTGG	0.498													-	31769142	C	-	31769142	7	5	283	1	0	1	0	1	0	0	0	0	16622	726	26	0	1692	0	TSHZ3	19	31769142	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	728929	31769142	27359841	1288	146570											
MAG	4099	broad.mit.edu	37	chr19	35786621	35786621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttcccggatgagctgcGgcccgctgtggtgcatggtg	16	11	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:35786621G>A	uc002nyy.1	+	4	301	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	MAG_uc002nyx.1_Missense_Mutation_p.R51Q|MAG_uc010eds.1_Missense_Mutation_p.R26Q|MAG_uc002nyz.1_Missense_Mutation_p.R51Q	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	51	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	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)			GATGAGCTGCGGCCCGCTGTG	0.632													A	35786621	G	A	35786621	3	1	283	1	0	0	0	0	1	0	0	0	9162	1116	39	1	158	1	MAG	19	35786621	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4017479	35786621	23342362	1289	146571											
MLL4	9757	broad.mit.edu	37	chr19	36215931	36215935	+	Frame_Shift_Del	DEL	CTGGA	CTGGA	-													tttgcttcttttcccaatggCtggactggaaagcagaagtc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36215931_36215935delCTGGA	uc010eei.2	+	11	3471_3475	c.3471_3475delCTGGA	c.(3469-3477)GGCTGGACTfs	p.G1157fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1157_1159					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCCCAATGGCTGGACTGGAAAGCA	0.576													-	36215935	CTGGA	-	36215931	7	5	283	1	0	1	0	1	0	0	0	0	9623	784	28	0	3509	0	MLL4	19	36215931	Frame_Shift_Del	DEL	CTGGA	TCGA-HU-A4H8-01A-11D-A25D-08	429310	36215931	22913052	1290	146572											
MLL4	9757	broad.mit.edu	37	chr19	36228111	36228111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagcagggagagggccaGgaggagccgcccctgaatcc	15	14	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36228111G>A	uc010eei.2	+	34	7497	c.7497G>A	c.(7495-7497)CAG>CAA	p.Q2499Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2499					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAGGGCCAGGAGGAGCCGC	0.637													A	36228111	G	A	36228111	2	1	283	1	0	0	0	0	0	0	0	1	9623	991	35	4		4	MLL4	19	36228111	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	12180	36228111	22900872	1291	146573											
NFKBID	84807	broad.mit.edu	37	chr19	36380850	36380850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcattctccaggttgCgcagtgtggggtccgcccca	13	14	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36380850C>T	uc002oci.1	-	11	1404	c.830G>A	c.(829-831)CGC>CAC	p.R277H	NFKBID_uc002och.1_Missense_Mutation_p.R114H|NFKBID_uc002ocj.1_Missense_Mutation_p.R292H	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	277					inflammatory response	nucleus					0						CTCCAGGTTGCGCAGTGTGGG	0.697													T	36380850	C	T	36380850	3	4	283	1	0	0	0	0	1	0	0	0	10379	768	27	1	119	1	NFKBID	19	36380850	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	152739	36380850	22748133	1292	146574											
LRFN3	79414	broad.mit.edu	37	chr19	36430728	36430728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggcctggtcaacttgcGccacctcatcctcagcaaca	9	17	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36430728G>A	uc002oco.2	+	2	853	c.401G>A	c.(400-402)CGC>CAC	p.R134H		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	134	LRR 4.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			GTCAACTTGCGCCACCTCATC	0.682													A	36430728	G	A	36430728	3	1	283	1	0	0	0	0	1	0	0	0	8939	1087	38	1	403	1	LRFN3	19	36430728	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	49878	36430728	22698255	1293	146575											
WDR62	284403	broad.mit.edu	37	chr19	36579994	36579994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaagagcatctactttcGcagtgcccagcaggtagggt	12	10	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:36579994G>A	uc002odc.2	+	14	1914	c.1823G>A	c.(1822-1824)CGC>CAC	p.R608H	WDR62_uc002odd.2_Missense_Mutation_p.R608H	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	608	WD 9.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCTACTTTCGCAGTGCCCAG	0.632													A	36579994	G	A	36579994	3	1	283	1	0	0	0	0	1	0	0	0	17310	1087	38	1	1877	1	WDR62	19	36579994	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	149266	36579994	22548989	1294	146576											
DPF1	8193	broad.mit.edu	37	chr19	38709609	38709611	+	In_Frame_Del	DEL	TCT	TCT	-													ctcctcctccttcagctcaaTcttcttctcccccgtctctg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:38709609_38709611delTCT	uc002ohl.2	-	4	494_496	c.467_469delAGA	c.(466-471)AAGATT>ATT	p.K156del	DPF1_uc002ohm.2_In_Frame_Del_p.K156del|DPF1_uc002ohn.2_In_Frame_Del_p.K74del|DPF1_uc010xtu.1_In_Frame_Del_p.K130del|DPF1_uc010xtv.1_In_Frame_Del_p.K130del|DPF1_uc010xtw.1_In_Frame_Del_p.K130del	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	156					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCAGCTCAATCTTCTTCTCCCC	0.64													-	38709611	TCT	-	38709609	7	5	283	1	0	1	0	1	0	0	0	0	4716	1435	50	0	841	0	DPF1	19	38709609	In_Frame_Del	DEL	TCT	TCGA-HU-A4H8-01A-11D-A25D-08	2129615	38709609	20419374	1295	146577											
CAPN12	147968	broad.mit.edu	37	chr19	39229238	39229238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcccgtgatggaataCgcgtgtccctttaccaggcc	12	12	0	1	rs148191501	by1000genomes	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39229238C>T	uc002ojd.1	-	6	1089	c.780G>A	c.(778-780)GCG>GCA	p.A260A	CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	260	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGATGGAATACGCGTGTCCCT	0.627													T	39229238	C	T	39229238	2	4	283	1	0	0	0	0	0	0	0	1	2625	523	19	1		1	CAPN12	19	39229238	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	519629	39229238	19899745	1296	146578											
ECH1	1891	broad.mit.edu	37	chr19	39306274	39306274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcttggagaaggtgacGgttttcagttccttgttctc	12	8	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39306274G>A	uc002oji.2	-	10	1051	c.966C>T	c.(964-966)ACC>ACT	p.T322T	LGALS4_uc002ojg.2_5'Flank|LGALS4_uc010xuj.1_5'Flank|ECH1_uc002ojh.2_Silent_p.T202T	NM_001398	NP_001389	Q13011	ECH1_HUMAN	peroxisomal enoyl-coenzyme A hydratase-like	322					fatty acid beta-oxidation|generation of precursor metabolites and energy	mitochondrion|peroxisome	enoyl-CoA hydratase activity|isomerase activity|protein binding			ovary(1)	1	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGAAGGTGACGGTTTTCAGTT	0.617													A	39306274	G	A	39306274	2	1	283	1	0	0	0	0	0	0	0	1	4892	1103	39	1		1	ECH1	19	39306274	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	77036	39306274	19822709	1297	146579											
HNRNPL	3191	broad.mit.edu	37	chr19	39329104	39329104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacgttgctggggtgcTggatgcggttcttggctgcc	17	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39329104T>C	uc010xul.1	-	10	1501	c.1490A>G	c.(1489-1491)CAG>CGG	p.Q497R	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.Q153R|HNRNPL_uc002ojo.1_Missense_Mutation_p.Q75R|HNRNPL_uc002ojk.2_Missense_Mutation_p.Q153R|HNRNPL_uc002ojl.2_Missense_Mutation_p.Q153R|HNRNPL_uc010xum.1_Missense_Mutation_p.Q364R	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	497					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTGGGGTGCTGGATGCGGTT	0.582													C	39329104	T	C	39329104	3	2	283	1	0	0	0	0	1	0	0	0	7270	1580	55	3	295	3	HNRNPL	19	39329104	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	22830	39329104	19799879	1298	146580											
TIMM50	92609	broad.mit.edu	37	chr19	39976855	39976855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggaggtttaagaagcGcccaggcatcgagaccttgt	14	9	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:39976855G>A	uc002olu.1	+	7	963	c.830G>A	c.(829-831)CGC>CAC	p.R277H	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	174	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	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)			TTTAAGAAGCGCCCAGGCATC	0.552													A	39976855	G	A	39976855	3	1	283	1	0	0	0	0	1	0	0	0	15910	1087	38	1	856	1	TIMM50	19	39976855	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	647751	39976855	19152128	1299	146581											
TTC9B	148014	broad.mit.edu	37	chr19	40724061	40724061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccggaacttcttctctcgAtagcagcgctggccctctgc	9	16	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:40724061A>G	uc002onc.2	-	1	246	c.228T>C	c.(226-228)TAT>TAC	p.Y76Y		NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	76	TPR 1.						binding				0						TCTTCTCTCGATAGCAGCGCT	0.547													G	40724061	A	G	40724061	2	3	283	1	0	0	0	0	0	0	0	1	16713	340	12	3		3	TTC9B	19	40724061	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	747206	40724061	18404922	1300	146582											
HIPK4	147746	broad.mit.edu	37	chr19	40886445	40886445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgcgggccttgtggcGgcctgccaggcggctgctgt	18	12	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:40886445G>A	uc002onp.2	-	3	1738	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	485						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCCTTGTGGCGGCCTGCCAGG	0.652													A	40886445	G	A	40886445	3	1	283	1	0	0	0	0	1	0	0	0	7119	1116	39	1	405	1	HIPK4	19	40886445	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	162384	40886445	18242538	1301	146583											
HIPK4	147746	broad.mit.edu	37	chr19	40895662	40895662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgttcttgatgatgcGgttgcggtaggcgtcattct	13	9	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:40895662G>A	uc002onp.2	-	1	433	c.148C>T	c.(148-150)CGC>TGC	p.R50C		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	50	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTGATGATGCGGTTGCGGTAG	0.607													A	40895662	G	A	40895662	3	1	283	1	0	0	0	0	1	0	0	0	7119	1116	39	1	1718	1	HIPK4	19	40895662	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9217	40895662	18233321	1302	146584											
NUMBL	9253	broad.mit.edu	37	chr19	41183178	41183178	+	Frame_Shift_Del	DEL	C	C	-													ctcgctcagcaggccgcccaCccccagacaggcggaaggag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:41183178delC	uc002oon.2	-	7	857	c.689delG	c.(688-690)GGTfs	p.G230fs	NUMBL_uc010xvq.1_Frame_Shift_Del_p.G189fs|NUMBL_uc002ooo.2_Frame_Shift_Del_p.G230fs|NUMBL_uc010xvr.1_Frame_Shift_Del_p.G189fs	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	230					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGGCCGCCCACCCCCAGACAG	0.662													-	41183178	C	-	41183178	7	5	283	1	0	1	0	1	0	0	0	0	10752	507	18	0	1156	0	NUMBL	19	41183178	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	287516	41183178	17945805	1303	146585											
CYP2B6	1555	broad.mit.edu	37	chr19	41522587	41522587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaaggcatcgcccgtgCggaattgttcctcttcttca	11	11	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:41522587C>T	uc002opr.1	+	9	1338	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.A244V	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	444					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			ovary(1)|skin(1)	2			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)	ATCGCCCGTGCGGAATTGTTC	0.577													T	41522587	C	T	41522587	3	4	283	1	0	0	0	0	1	0	0	0	4164	768	27	1	1365	1	CYP2B6	19	41522587	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	339409	41522587	17606396	1304	146586											
PSG6	5675	broad.mit.edu	37	chr19	43585190	43585190	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccactatatgcaggcccAtatataattatttgaccgtc	6	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:43585190A>G	uc002ovi.2	-	2	366	c.273T>C	c.(271-273)TAT>TAC	p.Y91Y	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.Y91Y|PSG2_uc002ovq.3_Silent_p.Y91Y|PSG2_uc010eiq.1_Silent_p.Y91Y|PSG2_uc002ovs.3_Silent_p.Y91Y|PSG2_uc002ovt.3_Silent_p.Y91Y			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	90	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				ATGCAGGCCCATATATAATTA	0.453													G	43585190	A	G	43585190	2	3	283	1	0	0	0	0	0	0	0	1	12659	224	8	3		3	PSG6	19	43585190	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2062603	43585190	15543793	1305	146587											
EXOC3L2	90332	broad.mit.edu	37	chr19	45716496	45716496	+	Frame_Shift_Del	DEL	G	G	-													caaagaaggcacggtcccgaGggggtgacagggctccctcc							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:45716495_45716495AG>A	uc002pay.1	-	9	1103	c.1062_1062CT>T	c.(1060-1062)cctfs	p.P354fs		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	354										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)		CACGGTCCCGAGGGGGTGACA	0.682													-	45716496	G	-	45716496	7	5	283	1	0	1	0	1	0	0	0	0	5305	1000	35	0	172	0	EXOC3L2	19	45716496	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	2131306	45716496	13412487	1306	146588											
FOXA3	3171	broad.mit.edu	37	chr19	46375988	46375988	+	Frame_Shift_Del	DEL	C	C	-													gtctgctgcctcgaccaccaCccccgcggccacagtcacct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:46375988delC	uc002pdr.2	+	2	922	c.725delC	c.(724-726)ACCfs	p.T242fs		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	242					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)	1		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)		TCGACCACCACCCCCGCGGCC	0.692													-	46375988	C	-	46375988	7	5	283	1	0	1	0	1	0	0	0	0	5991	507	18	0	731	0	FOXA3	19	46375988	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	659492	46375988	12752995	1307	146589											
STRN4	29888	broad.mit.edu	37	chr19	47240136	47240136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgttctccagggtgacCgattccacggggccattgga	15	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:47240136C>T	uc002pfl.2	-	4	516	c.483G>A	c.(481-483)TCG>TCA	p.S161S	STRN4_uc002pfm.2_Silent_p.S161S|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	161						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		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)		CCAGGGTGACCGATTCCACGG	0.627													T	47240136	C	T	47240136	2	4	283	1	0	0	0	0	0	0	0	1	15330	639	23	1		1	STRN4	19	47240136	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	864148	47240136	11888847	1308	146590											
FUT1	2523	broad.mit.edu	37	chr19	49253486	49253486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagacaagtctgcattaatGcccacccactcgggcaggaa	11	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49253486G>A	uc002pkk.2	-	4	2028	c.1053C>T	c.(1051-1053)GGC>GGT	p.G351G		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	351	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCATTAATGCCCACCCACT	0.552													A	49253486	G	A	49253486	2	1	283	1	0	0	0	0	0	0	0	1	6101	1306	46	2		2	FUT1	19	49253486	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2013350	49253486	9875497	1309	146591											
NUCB1	4924	broad.mit.edu	37	chr19	49409052	49409052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactttgtcagccaccacGtccgcaccaagctggatgag	11	13	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49409052G>A	uc002plb.3	+	4	358	c.286G>A	c.(286-288)GTC>ATC	p.V96I	NUCB1_uc002pla.2_Missense_Mutation_p.V96I|NUCB1_uc002plc.2_Missense_Mutation_p.V96I	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	96						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		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)		CAGCCACCACGTCCGCACCAA	0.627													A	49409052	G	A	49409052	3	1	283	1	0	0	0	0	1	0	0	0	10718	1145	40	1	296	1	NUCB1	19	49409052	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	155566	49409052	9719931	1310	146592											
GYS1	2997	broad.mit.edu	37	chr19	49488801	49488801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagcgcagtgggctgccGccctttccatgcagtatcgg	14	13	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49488801G>A	uc002plp.2	-	5	981	c.740C>T	c.(739-741)GCG>GTG	p.A247V	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.A183V|GYS1_uc010xzz.1_Missense_Mutation_p.A167V|GYS1_uc010yaa.1_RNA	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	247					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		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)		GTGGGCTGCCGCCCTTTCCAT	0.582													A	49488801	G	A	49488801	3	1	283	1	0	0	0	0	1	0	0	0	6912	1087	38	1	1521	1	GYS1	19	49488801	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	79749	49488801	9640182	1311	146593											
RUVBL2	10856	broad.mit.edu	37	chr19	49514455	49514455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caccccaatccaaggtgctgTtcatcgacgaggtccacatg	9	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49514455T>G	uc002plr.1	+	11	902	c.889T>G	c.(889-891)TTC>GTC	p.F297V	RUVBL2_uc002plq.1_Missense_Mutation_p.F252V|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.F252V|RUVBL2_uc010yac.1_Missense_Mutation_p.F252V	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	297					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CAAGGTGCTGTTCATCGACGA	0.647													G	49514455	T	G	49514455	3	3	283	1	0	0	0	0	1	0	0	0	13753	1725	60	5	931	5	RUVBL2	19	49514455	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	25654	49514455	9614528	1312	146594											
TRPM4	54795	broad.mit.edu	37	chr19	49685991	49685991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctccaactcgctcatcCgcaaccttttggaccaggcg	8	18	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49685991C>T	uc002pmw.2	+	11	1492	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	TRPM4_uc010emu.2_Missense_Mutation_p.R474C|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.R300C|TRPM4_uc010emv.2_Missense_Mutation_p.R359C|TRPM4_uc010yal.1_Missense_Mutation_p.R120C|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	474	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		CTCGCTCATCCGCAACCTTTT	0.672													T	49685991	C	T	49685991	3	4	283	1	0	0	0	0	1	0	0	0	16585	652	23	1	1462	1	TRPM4	19	49685991	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	171536	49685991	9442992	1313	146595											
TEAD2	8463	broad.mit.edu	37	chr19	49850473	49850474	+	Frame_Shift_Ins	INS	-	-	G													ttgaccaggaagaaggcatgINSgggggggccacgatcatata							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49850472_49850473T>TG	uc002pnh.3	-	9	1001_1002	c.895_896A>CA	c.(895-897)catfs	p.H299fs	TEAD2_uc002png.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pni.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pnj.3_Frame_Shift_Ins_p.H295fs|TEAD2_uc010yao.2_Frame_Shift_Ins_p.H167fs|TEAD2_uc010emw.3_Frame_Shift_Ins_p.H298fs	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)|p.L299P(1)		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)		GAAGAAGGCATGGGGGGGGCCA	0.564													G	49850474	-	G	49850473	7	5	283	1	0	1	1	0	0	0	0	0	15736	1348	47	0	476	0	TEAD2	19	49850473	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	164482	49850473	9278510	1314	146596											
TEAD2	8463	broad.mit.edu	37	chr19	49862716	49862716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgagttcgggtcttcccCgttctcagcttgatgtagcg	11	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:49862716C>T	uc002pnj.2	-	3	364	c.273G>A	c.(271-273)ACG>ACA	p.T91T	TEAD2_uc002png.2_Silent_p.T91T|TEAD2_uc002pnh.2_Silent_p.T91T|TEAD2_uc002pni.2_Silent_p.T91T|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Silent_p.T91T	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	91	TEA.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		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)		GGGTCTTCCCCGTTCTCAGCT	0.517													T	49862716	C	T	49862716	2	4	283	1	0	0	0	0	0	0	0	1	15736	639	23	1		1	TEAD2	19	49862716	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	12243	49862716	9266267	1315	146597											
TSKS	60385	broad.mit.edu	37	chr19	50247622	50247622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccagcccctccagttcGctcctcagtgaagccacaga	10	17	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:50247622G>A	uc002ppm.2	-	8	1238	c.1227C>T	c.(1225-1227)AGC>AGT	p.S409S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	409							protein binding			large_intestine(1)|skin(1)	2		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)		CCTCCAGTTCGCTCCTCAGTG	0.582													A	50247622	G	A	50247622	2	1	283	1	0	0	0	0	0	0	0	1	16623	1078	38	1		1	TSKS	19	50247622	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	384906	50247622	8881361	1316	146598											
TSKS	60385	broad.mit.edu	37	chr19	50265289	50265289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgatgtctgcgtcatccGgatcccagggtagggtaggg	16	10	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:50265289G>A	uc002ppm.2	-	2	382	c.371C>T	c.(370-372)CCG>CTG	p.P124L		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	124							protein binding			large_intestine(1)|skin(1)	2		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)		TGCGTCATCCGGATCCCAGGG	0.632													A	50265289	G	A	50265289	3	1	283	1	0	0	0	0	1	0	0	0	16623	1116	39	1	1447	1	TSKS	19	50265289	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	17667	50265289	8863694	1317	146599											
SHANK1	50944	broad.mit.edu	37	chr19	51170213	51170213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccagaatccgtgccaggCggagggtccgggccaggctg	17	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:51170213C>T	uc002psx.1	-	22	5023	c.5004G>A	c.(5002-5004)CCG>CCA	p.P1668P	SHANK1_uc002psw.1_Silent_p.P1052P	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1668					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCGTGCCAGGCGGAGGGTCCG	0.716													T	51170213	C	T	51170213	2	4	283	1	0	0	0	0	0	0	0	1	14264	755	27	1		1	SHANK1	19	51170213	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	904924	51170213	7958770	1318	146600											
HAS1	3036	broad.mit.edu	37	chr19	52216788	52216788	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccacgtaggcgccggccccCgcggccaagtggtaggcctc	14	18	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:52216788C>A	uc002pxo.1	-	5	1664	c.1629G>T	c.(1627-1629)GCG>GCT	p.A543A	HAS1_uc010epc.1_Silent_p.A143A|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Silent_p.A550A|HAS1_uc002pxp.1_Silent_p.A542A	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	543	Helical; Name=7; (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGCCGGCCCCCGCGGCCAAGT	0.741													A	52216788	C	A	52216788	2	1	283	1	0	0	0	0	0	0	0	1	6961	639	23	5		5	HAS1	19	52216788	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1046575	52216788	6912195	1319	146601											
FPR2	2358	broad.mit.edu	37	chr19	52272458	52272458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactttcaactttgcatccTggggtggcacccctgaggag	12	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:52272458T>C	uc002pxr.2	+	2	592	c.547T>C	c.(547-549)TGG>CGG	p.W183R	FPR2_uc002pxs.3_Missense_Mutation_p.W183R|FPR2_uc010epf.2_Missense_Mutation_p.W183R	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	183	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W183*(1)		lung(3)|ovary(1)	4						CTTTGCATCCTGGGGTGGCAC	0.478													C	52272458	T	C	52272458	3	2	283	1	0	0	0	0	1	0	0	0	6039	1580	55	3	549	3	FPR2	19	52272458	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	55670	52272458	6856525	1320	146602											
VSTM1	284415	broad.mit.edu	37	chr19	54544249	54544249	+	Frame_Shift_Del	DEL	G	G	-													ccgcatattcatgagatcctGggggctcctgggtggtgtct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:54544248_54544248TG>T	uc002qcw.4	-	8	854	c.678_678CA>A	c.(676-678)ccafs	p.P226fs	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Frame_Shift_Del_p.P138fs|VSTM1_uc002qcx.4_Frame_Shift_Del_p.P195fs|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Frame_Shift_Del_p.P106fs	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	226						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)		CATGAGATCCTGGGGGCTCCT	0.557													-	54544249	G	-	54544249	7	5	283	1	0	1	0	1	0	0	0	0	17225	1348	47	0	37	0	VSTM1	19	54544249	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	2271791	54544249	4584734	1321	146603											
LILRA4	23547	broad.mit.edu	37	chr19	54849400	54849400	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtggtctccttcctcaatCagagtgaacctgcccagtcc	8	15	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:54849400C>T	uc002qfj.2	-	4	519	c.462G>A	c.(460-462)CTG>CTA	p.L154L	LILRA4_uc002qfi.2_Silent_p.L88L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	154	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTTCCTCAATCAGAGTGAACC	0.612													T	54849400	C	T	54849400	2	4	283	1	0	0	0	0	0	0	0	1	8787	813	29	4		4	LILRA4	19	54849400	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	305151	54849400	4279583	1322	146604											
KIR3DL1	3811	broad.mit.edu	37	chr19	55378013	55378013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcaggaggtgacgtacGcacagttggatcactgcgtt	12	11	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:55378013G>A	uc002qhl.3	+	9	1258	c.1195G>A	c.(1195-1197)GCA>ACA	p.A399T	KIR3DL2_uc010esh.2_Missense_Mutation_p.A382T|KIR3DL2_uc002qho.3_Missense_Mutation_p.A399T			P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	399	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GGTGACGTACGCACAGTTGGA	0.502													A	55378013	G	A	55378013	3	1	283	1	0	0	0	0	1	0	0	0	8320	1087	38	1		1	KIR3DL1	19	55378013	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	528613	55378013	3750970	1323	146605											
EPN1	29924	broad.mit.edu	37	chr19	56203330	56203330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacccctggaggcctgctGcccctgcaggaccctcagtt	13	16	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:56203330G>A	uc002qlw.2	+	7	1315	c.973G>A	c.(973-975)GCC>ACC	p.A325T	EPN1_uc002qlv.2_Missense_Mutation_p.A300T|EPN1_uc010etd.2_Missense_Mutation_p.A325T|EPN1_uc002qlx.2_Missense_Mutation_p.A411T	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	325	Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GAGGCCTGCTGCCCCTGCAGG	0.721													A	56203330	G	A	56203330	3	1	283	1	0	0	0	0	1	0	0	0	5185	1319	46	2	1336	2	EPN1	19	56203330	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	825317	56203330	2925653	1324	146606											
ZNF416	55659	broad.mit.edu	37	chr19	58084689	58084689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttgtttggcttctcatAgttagcaatagcttgcggct	10	7	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:58084689A>G	uc002qpf.2	-	4	754	c.583T>C	c.(583-585)TAT>CAT	p.Y195H	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		GGCTTCTCATAGTTAGCAATA	0.478													G	58084689	A	G	58084689	3	3	283	1	0	0	0	0	1	0	0	0	17890	420	15	3	1205	3	ZNF416	19	58084689	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1881359	58084689	1044294	1325	146607											
ZNF671	79891	broad.mit.edu	37	chr19	58238780	58238780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcggagtccgttagctcCgccataggaccgtgggcgcg	16	14	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:58238780C>T	uc002qpz.3	-	1	216	c.117G>A	c.(115-117)GCG>GCA	p.A39A	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CCGTTAGCTCCGCCATAGGAC	0.687													T	58238780	C	T	58238780	2	4	283	1	0	0	0	0	0	0	0	1	18075	639	23	1		1	ZNF671	19	58238780	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	154091	58238780	890203	1326	146608											
TRIM28	10155	broad.mit.edu	37	chr19	59061548	59061548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctggatctgaccctgaTccgtgcccgcctccaggaga	10	17	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr19:59061548T>C	uc002qtg.1	+	16	2517	c.2228T>C	c.(2227-2229)ATC>ACC	p.I743T	TRIM28_uc010eut.1_Missense_Mutation_p.I661T|TRIM28_uc002qth.1_Missense_Mutation_p.I358T	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	743	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		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)		CTGACCCTGATCCGTGCCCGC	0.478													C	59061548	T	C	59061548	3	2	283	1	0	0	0	0	1	0	0	0	16499	1435	50	3	2290	3	TRIM28	19	59061548	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	822768	59061548	67435	1327	146609											
ANGPT4	51378	broad.mit.edu	37	chr20	860413	860413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtaatccttccagttccGctgaaaattcacggtgccat	7	11	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:860413G>A	uc002wei.2	-	6	1133	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W	ANGPT4_uc010zpn.1_Missense_Mutation_p.R338W	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	344	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			ovary(2)	2						TTCCAGTTCCGCTGAAAATTC	0.612													A	860413	G	A	860413	3	1	283	1	0	0	0	0	1	0	0	0	612	1086	38	1	497	1	ANGPT4	20	860413	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08		860413	62165107	1328	146610											
MAVS	57506	broad.mit.edu	37	chr20	3845148	3845148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggggcagaggcacctGccaactctctgccctccaaa	10	16	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:3845148G>A	uc002wjw.3	+	6	1040	c.871G>A	c.(871-873)GCC>ACC	p.A291T	MAVS_uc002wjx.3_Missense_Mutation_p.A150T|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	291	Cytoplasmic (Probable).				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				0						AGAGGCACCTGCCAACTCTCT	0.607													A	3845148	G	A	3845148	3	1	283	1	0	0	0	0	1	0	0	0	9338	1319	46	2	889	2	MAVS	20	3845148	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2984735	3845148	59180372	1329	146611											
DTD1	92675	broad.mit.edu	37	chr20	18724832	18724832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaggaaagaaacactccccGaaaagaagaccgcagtgcca	9	12	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:18724832G>A	uc002wrf.3	+	5	727	c.566G>A	c.(565-567)CGA>CAA	p.R189Q		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	189					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			ovary(2)	2						AACACTCCCCGAAAAGAAGAC	0.517													A	18724832	G	A	18724832	3	1	283	1	0	0	0	0	1	0	0	0	4786	1058	37	1	584	1	DTD1	20	18724832	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	14879684	18724832	44300688	1330	146612											
CST7	8530	broad.mit.edu	37	chr20	24930099	24930099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgagaaggcactgcaCggccacccccaactgccccg	10	19	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:24930099C>T	uc002wtx.1	+	1	234	c.24C>T	c.(22-24)CAC>CAT	p.H8H		NM_003650	NP_003641	O76096	CYTF_HUMAN	cystatin F	Error:Variant_position_missing_in_O76096_after_alignment					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1						AGGCACTGCACGGCCACCCCC	0.677													T	24930099	C	T	24930099	2	4	283	1	0	0	0	0	0	0	0	1	3977	551	19	1		1	CST7	20	24930099	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	6205267	24930099	38095421	1331	146613											
XKR7	343702	broad.mit.edu	37	chr20	30584330	30584330	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctccacctccgcctccctCgtgtctctggcctggacgct	8	20	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:30584330C>T	uc002wxe.2	+	3	984	c.810C>T	c.(808-810)CTC>CTT	p.L270L		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	270	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCCTCCCTCGTGTCTCTGG	0.711													T	30584330	C	T	30584330	2	4	283	1	0	0	0	0	0	0	0	1	17433	871	31	1		1	XKR7	20	30584330	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5654231	30584330	32441190	1332	146614											
BPIL1	80341	broad.mit.edu	37	chr20	31604906	31604906	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacctgggcaccttaaTtggtaagatctgggagccag	12	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:31604906T>G	uc002wyj.2	+	7	769	c.575T>G	c.(574-576)ATT>AGT	p.I192S		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	192						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GGCACCTTAATTGGTAAGATC	0.617													G	31604906	T	G	31604906	3	3	283	1	0	0	0	0	1	0	0	0	1491	1493	52	5	597	5	BPIL1	20	31604906	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	1020576	31604906	31420614	1333	146615											
BPIL1	80341	broad.mit.edu	37	chr20	31609117	31609117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcacactgatgggcaccGtttttgagaagcccctgctg	12	12	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:31609117G>A	uc002wyj.2	+	14	1419	c.1225G>A	c.(1225-1227)GTT>ATT	p.V409I		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	409						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4						GATGGGCACCGTTTTTGAGAA	0.587													A	31609117	G	A	31609117	3	1	283	1	0	0	0	0	1	0	0	0	1491	1145	40	1	1275	1	BPIL1	20	31609117	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4211	31609117	31416403	1334	146616											
CHMP4B	128866	broad.mit.edu	37	chr20	32399335	32399336	+	Frame_Shift_Ins	INS	-	-	C													ggccggcaagggcggcccgaINSccccccaggaggccatccag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:32399335_32399336insC	uc002xaa.2	+	1	217_218	c.61_62insC	c.(61-63)ACCfs	p.T21fs		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	chromatin modifying protein 4B	21					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(1)|central_nervous_system(1)	2						GGGCGGCCCGACCCCCCAGGAG	0.55													C	32399336	-	C	32399335	7	5	283	1	0	1	1	0	0	0	0	0	3357	275	10	0	63	0	CHMP4B	20	32399335	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	790218	32399335	30626185	1335	146617											
NCOA6	23054	broad.mit.edu	37	chr20	33330514	33330514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaatttacagggggttgCtggggagttgcaccttgagt	17	5	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:33330514C>T	uc002xav.2	-	12	6117	c.3546G>A	c.(3544-3546)CAG>CAA	p.Q1182Q	NCOA6_uc002xaw.2_Silent_p.Q1182Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1182	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			ovary(3)|breast(3)|central_nervous_system(1)	7						CAGGGGGTTGCTGGGGAGTTG	0.537													T	33330514	C	T	33330514	2	4	283	1	0	0	0	0	0	0	0	1	10233	796	28	2		2	NCOA6	20	33330514	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	931179	33330514	29695006	1336	146618											
TGM2	7052	broad.mit.edu	37	chr20	36766704	36766704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggcccacacggatccGcatggccatccctgtctcct	9	18	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:36766704G>A	uc002xhr.2	-	10	1526	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W	TGM2_uc010zvx.1_Missense_Mutation_p.R395W|TGM2_uc010zvy.1_Missense_Mutation_p.R416W|TGM2_uc002xhs.1_Missense_Mutation_p.R452W|TGM2_uc002xht.2_Missense_Mutation_p.R476W	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	476					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACACGGATCCGCATGGCCATC	0.587													A	36766704	G	A	36766704	3	1	283	1	0	0	0	0	1	0	0	0	15827	1086	38	1	685	1	TGM2	20	36766704	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3436190	36766704	26258816	1337	146619											
RALGAPB	57148	broad.mit.edu	37	chr20	37121578	37121578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttgtctaggtaaaAtggaccatggaagtaatttg	9	4	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:37121578A>G	uc002xiw.2	+	3	449	c.192A>G	c.(190-192)AAA>AAG	p.K64K	RALGAPB_uc010zvz.1_Silent_p.K64K|RALGAPB_uc002xix.2_Silent_p.K64K|RALGAPB_uc002xiy.1_Silent_p.K64K|RALGAPB_uc002xiz.2_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	64					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TCTAGGTAAAATGGACCATGG	0.343													G	37121578	A	G	37121578	2	3	283	1	0	0	0	0	0	0	0	1	13015	98	4	3		3	RALGAPB	20	37121578	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	354874	37121578	25903942	1338	146620											
ACOT8	10005	broad.mit.edu	37	chr20	44472189	44472189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggctctcgcattcaTagagcatccagtggtcagct	11	13	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:44472189T>C	uc002xqa.1	-	5	899	c.818A>G	c.(817-819)TAT>TGT	p.Y273C	ACOT8_uc010zxe.1_3'UTR|ACOT8_uc002xqc.1_3'UTR|ACOT8_uc010zxf.1_Missense_Mutation_p.Y153C	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	273					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			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTCGCATTCATAGAGCATCCA	0.453													C	44472189	T	C	44472189	3	2	283	1	0	0	0	0	1	0	0	0	156	1406	49	3	149	3	ACOT8	20	44472189	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	7350611	44472189	18553331	1339	146621											
ACOT8	10005	broad.mit.edu	37	chr20	44472920	44472920	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaatatagccccgggctcGcacccagaacatctgtttgg	9	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:44472920G>A	uc002xqa.1	-	4	709	c.628C>T	c.(628-630)CGA>TGA	p.R210*	ACOT8_uc010zxe.1_Nonsense_Mutation_p.R210*|ACOT8_uc002xqc.1_Nonsense_Mutation_p.R157*|ACOT8_uc010zxf.1_Nonsense_Mutation_p.R90*	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	210					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			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCGGGCTCGCACCCAGAAC	0.458													A	44472920	G	A	44472920	4	1	283	1	0	0	0	0	0	1	0	0	156	1095	38	1	343	1	ACOT8	20	44472920	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	731	44472920	18552600	1340	146622											
ZMYND8	23613	broad.mit.edu	37	chr20	45867728	45867728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgggcttcctgtggcGgcgggggccggggccgtgac	19	12	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:45867728G>A	uc002xta.1	-	15	2633	c.2379C>T	c.(2377-2379)GCC>GCT	p.A793A	ZMYND8_uc010ghq.1_Silent_p.A470A|ZMYND8_uc010ghr.1_Silent_p.A768A|ZMYND8_uc002xst.1_Silent_p.A721A|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Silent_p.A721A|ZMYND8_uc002xsw.1_Silent_p.A545A|ZMYND8_uc002xsx.1_Silent_p.A545A|ZMYND8_uc002xsy.1_Silent_p.A768A|ZMYND8_uc002xsz.1_Silent_p.A730A|ZMYND8_uc010zxy.1_Silent_p.A820A|ZMYND8_uc002xtb.1_Silent_p.A813A|ZMYND8_uc002xss.2_Silent_p.A793A|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Silent_p.A813A|ZMYND8_uc002xtd.1_Silent_p.A788A|ZMYND8_uc002xte.1_Silent_p.A793A|ZMYND8_uc010zya.1_Silent_p.A793A|ZMYND8_uc002xtf.1_Silent_p.A813A|ZMYND8_uc002xtg.2_Silent_p.A787A|ZMYND8_uc010ghs.1_Silent_p.A787A|ZMYND8_uc002xsr.1_5'UTR	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	793							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTCCTGTGGCGGCGGGGGCCG	0.652													A	45867728	G	A	45867728	2	1	283	1	0	0	0	0	0	0	0	1	17708	1103	39	1		1	ZMYND8	20	45867728	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1394808	45867728	17157792	1341	146623											
ZMYND8	23613	broad.mit.edu	37	chr20	45878153	45878153	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggaccgactcgctcagcTccttcaaatccatctcagct	7	16	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:45878153T>A	uc002xta.1	-	13	1846	c.1592A>T	c.(1591-1593)GAG>GTG	p.E531V	ZMYND8_uc010ghq.1_Missense_Mutation_p.E208V|ZMYND8_uc010ghr.1_Missense_Mutation_p.E506V|ZMYND8_uc002xst.1_Missense_Mutation_p.E459V|ZMYND8_uc002xsu.1_Missense_Mutation_p.E531V|ZMYND8_uc002xsv.1_Missense_Mutation_p.E459V|ZMYND8_uc002xsw.1_Missense_Mutation_p.E283V|ZMYND8_uc002xsx.1_Missense_Mutation_p.E283V|ZMYND8_uc002xsy.1_Missense_Mutation_p.E506V|ZMYND8_uc002xsz.1_Missense_Mutation_p.E468V|ZMYND8_uc010zxy.1_Missense_Mutation_p.E558V|ZMYND8_uc002xtb.1_Missense_Mutation_p.E551V|ZMYND8_uc002xss.2_Missense_Mutation_p.E531V|ZMYND8_uc010zxz.1_Missense_Mutation_p.E526V|ZMYND8_uc002xtc.1_Missense_Mutation_p.E551V|ZMYND8_uc002xtd.1_Missense_Mutation_p.E526V|ZMYND8_uc002xte.1_Missense_Mutation_p.E531V|ZMYND8_uc010zya.1_Missense_Mutation_p.E531V|ZMYND8_uc002xtf.1_Missense_Mutation_p.E551V|ZMYND8_uc002xtg.2_Missense_Mutation_p.E525V|ZMYND8_uc010ghs.1_Missense_Mutation_p.E525V	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	531							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCGCTCAGCTCCTTCAAATC	0.517													A	45878153	T	A	45878153	3	1	283	1	0	0	0	0	1	0	0	0	17708	1551	54	5	1958	5	ZMYND8	20	45878153	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	10425	45878153	17147367	1342	146624											
ARFGEF2	10564	broad.mit.edu	37	chr20	47567921	47567921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagcccctgggaagcGgctgatcgacagaattgttg	15	9	0	2	rs143956045		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:47567921G>A	uc002xtx.3	+	4	490	c.338G>A	c.(337-339)CGG>CAG	p.R113Q		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	113					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTGGGAAGCGGCTGATCGAC	0.453													A	47567921	G	A	47567921	3	1	283	1	0	0	0	0	1	0	0	0	853	1116	39	1	352	1	ARFGEF2	20	47567921	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1689768	47567921	15457599	1343	146625											
MOCS3	27304	broad.mit.edu	37	chr20	49575760	49575760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggcccgccaagtgctGcatggcgaggcactggctgg	15	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:49575760G>A	uc002xvy.1	+	1	398	c.381G>A	c.(379-381)CTG>CTA	p.L127L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	127					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			skin(2)|ovary(1)	3						GCCAAGTGCTGCATGGCGAGG	0.667													A	49575760	G	A	49575760	2	1	283	1	0	0	0	0	0	0	0	1	9692	1306	46	2		2	MOCS3	20	49575760	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2007839	49575760	13449760	1344	146626											
KCNG1	3755	broad.mit.edu	37	chr20	49620977	49620977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgcagaggaagagcaGcaggagcccgaactcgcggg	17	12	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:49620977G>A	uc002xwa.3	-	3	1436	c.1141C>T	c.(1141-1143)CTG>TTG	p.L381L		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	381	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						AGGAAGAGCAGCAGGAGCCCG	0.692													A	49620977	G	A	49620977	2	1	283	1	0	0	0	0	0	0	0	1	8027	962	34	2		2	KCNG1	20	49620977	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	45217	49620977	13404543	1345	146627											
KCNG1	3755	broad.mit.edu	37	chr20	49626813	49626813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgggtggaaggaggcGtccgaggtgcagctcagcgc	19	10	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:49626813G>A	uc002xwa.3	-	2	358	c.63C>T	c.(61-63)GAC>GAT	p.D21D	KCNG1_uc002xwb.2_Silent_p.D21D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	21	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GGAAGGAGGCGTCCGAGGTGC	0.672													A	49626813	G	A	49626813	2	1	283	1	0	0	0	0	0	0	0	1	8027	1136	40	1		1	KCNG1	20	49626813	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	5836	49626813	13398707	1346	146628											
ZNF217	7764	broad.mit.edu	37	chr20	52193226	52193226	+	Frame_Shift_Del	DEL	C	C	-													tgccgggcaattgtgaagagCccccacggataaatttaaag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:52193225_52193225GC>G	uc002xwq.4	-	2	2420	c.2078_2078GC>C	c.(2077-2079)gctfs	p.A693fs	ZNF217_uc010gij.1_Frame_Shift_Del_p.A685fs	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	693					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)			ATTGTGAAGAGCCCCCACGGA	0.423													-	52193226	C	-	52193226	7	5	283	1	0	1	0	1	0	0	0	0	17769	739	26	0	1077	0	ZNF217	20	52193226	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	2566413	52193226	10832294	1347	146629											
MC3R	4159	broad.mit.edu	37	chr20	54824427	54824427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctgcggcgtctgtggCgtggtgttcatcgtctactc	14	11	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:54824427C>T	uc002xxb.2	+	1	640	c.528C>T	c.(526-528)GGC>GGT	p.G176G		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	213	Helical; Name=4; (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			GCGTCTGTGGCGTGGTGTTCA	0.562													T	54824427	C	T	54824427	2	4	283	1	0	0	0	0	0	0	0	1	9365	755	27	1		1	MC3R	20	54824427	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2631201	54824427	8201093	1348	146630											
C20orf106	200232	broad.mit.edu	37	chr20	55100860	55100860	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgagtatctttcctgacagGagcagagtcctcctggcctt	10	11	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:55100860G>T	uc002xxx.2	+	2	330	c.250G>T	c.(250-252)GAG>TAG	p.E84*	GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	84	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			TTCCTGACAGGAGCAGAGTCC	0.338													T	55100860	G	T	55100860	4	4	283	1	0	0	0	0	0	1	0	0	2076	1188	41	5	256	5	C20orf106	20	55100860	Nonsense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	276433	55100860	7924660	1349	146631											
STX16	8675	broad.mit.edu	37	chr20	57244434	57244436	+	In_Frame_Del	DEL	GTG	GTG	-													aggggcggctgcttgggaacGtggtggcctcgctggcgcag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:57244433_57244435CGTG>C	uc002xzi.3	+	4	1234_1236	c.480_482CGTG>C	c.(478-483)aacgtg>aaCg	p.V162del	STX16_uc021wfi.1_In_Frame_Del_p.V109del|STX16_uc002xzk.3_In_Frame_Del_p.V145del|STX16_uc010zzq.2_Intron|STX16_uc002xzl.3_Intron|STX16_uc002xzm.3_In_Frame_Del_p.V158del|STX16_uc002xzj.3_In_Frame_Del_p.V141del|STX16_uc021wfj.1_Intron	NM_001001433	NP_001191797	O14662	STX16_HUMAN	Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA.	162					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane|microsome	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGCTTGGGAACGTGGTGGCCTCG	0.68													-	57244436	GTG	-	57244434	7	5	283	1	0	1	0	1	0	0	0	0	15338	1145	40	0	499	0	STX16	20	57244434	In_Frame_Del	DEL	GTG	TCGA-HU-A4H8-01A-11D-A25D-08	2143574	57244434	5781086	1350	146632											
ZNF831	128611	broad.mit.edu	37	chr20	57766220	57766221	+	Frame_Shift_Ins	INS	-	-	C													ccgccagagcagggcctggcINScccccccactgtgttcctga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:57766219_57766220G>GC	uc002yan.3	+	0	145_146	c.145_146G>GC	c.(145-147)gccfs	p.A49fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(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)					GCAGGGCCTGGCCCCCCCCACT	0.728													C	57766221	-	C	57766220	7	5	283	1	0	1	1	0	0	0	0	0	18182	739	26	0	148	0	ZNF831	20	57766220	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	521786	57766220	5259300	1351	146633											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514195	58514195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgttgtcccagtactcGgcacccgccacttggtagcg	11	14	0	0	rs146169621		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:58514195G>A	uc002ybb.2	-	1	1158	c.792C>T	c.(790-792)GCC>GCT	p.A264A	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	264	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CCCAGTACTCGGCACCCGCCA	0.632													A	58514195	G	A	58514195	2	1	283	1	0	0	0	0	0	0	0	1	12374	1103	39	1		1	PPP1R3D	20	58514195	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	747975	58514195	4511325	1352	146634											
COL9A3	1299	broad.mit.edu	37	chr20	61458159	61458159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctgggatcccaggagCgcctgggaaagcggtacgtg	17	12	0	0	rs147134081	byFrequency	TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:61458159C>T	uc002ydm.2	+	15	782	c.779C>T	c.(778-780)GCG>GTG	p.A260V		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	260	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					ATCCCAGGAGCGCCTGGGAAA	0.672													T	61458159	C	T	61458159	3	4	283	1	0	0	0	0	1	0	0	0	3709	768	27	1	837	1	COL9A3	20	61458159	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2943964	61458159	1567361	1353	146635											
KCNQ2	3785	broad.mit.edu	37	chr20	62046407	62046407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcacagtctgggcctgCggggaccccttccccttggc	12	18	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62046407C>T	uc002yey.1	-	13	1551	c.1374G>A	c.(1372-1374)CCG>CCA	p.P458P	KCNQ2_uc002yez.1_Silent_p.P428P|KCNQ2_uc002yfa.1_Silent_p.P440P|KCNQ2_uc002yfb.1_Silent_p.P430P	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	458	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCTGGGCCTGCGGGGACCCCT	0.672													T	62046407	C	T	62046407	2	4	283	1	0	0	0	0	0	0	0	1	8083	755	27	1		1	KCNQ2	20	62046407	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	588248	62046407	979113	1354	146636											
ZBTB46	140685	broad.mit.edu	37	chr20	62421442	62421442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgatgcgcagaggcccGtagcccacgtctccaggcca	11	16	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62421442G>A	uc002ygv.1	-	2	870	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCAGAGGCCCGTAGCCCACGT	0.587													A	62421442	G	A	62421442	2	1	283	1	0	0	0	0	0	0	0	1	17544	1140	40	1		1	ZBTB46	20	62421442	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	375035	62421442	604078	1355	146637											
UCKL1	54963	broad.mit.edu	37	chr20	62571762	62571762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgccatcatggccgccGcgcccgtggacacggtgcag	14	16	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62571762G>A	uc010gkn.2	-	13	1422	c.1379C>T	c.(1378-1380)GCG>GTG	p.A460V	UCKL1_uc002yhj.2_Missense_Mutation_p.A103V|UCKL1_uc011abm.1_Missense_Mutation_p.A445V|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	460					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CATGGCCGCCGCGCCCGTGGA	0.647													A	62571762	G	A	62571762	3	1	283	1	0	0	0	0	1	0	0	0	16922	1087	38	1	279	1	UCKL1	20	62571762	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	150320	62571762	453758	1356	146638											
ZNF512B	57473	broad.mit.edu	37	chr20	62597958	62597958	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgctcactccgatgggCttgctgaccccaacaggccg	12	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr20:62597958C>A	uc002yhl.1	-	5	624	c.570G>T	c.(568-570)AAG>AAT	p.K190N		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTCCGATGGGCTTGCTGACCC	0.612													A	62597958	C	A	62597958	3	1	283	1	0	0	0	0	1	0	0	0	17954	796	28	5	2160	5	ZNF512B	20	62597958	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	26196	62597958	427562	1357	146639											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212612	28212612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatcaaaatgctttctgtCggttttgttcacacacttgc	6	11	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:28212612C>T	uc002ymf.2	-	5	2103	c.1648G>A	c.(1648-1650)GAC>AAC	p.D550N		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	550	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TGCTTTCTGTCGGTTTTGTTC	0.433													T	28212612	C	T	28212612	3	4	283	1	0	0	0	0	1	0	0	0	255	884	31	1	1275	1	ADAMTS1	21	28212612	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		28212612	19917283	1358	146640											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306907	28306907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaccatctggccctggcGtaccacagcacaccacaggc	9	17	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:28306907G>A	uc002ymg.2	-	4	2296	c.1567C>T	c.(1567-1569)CGC>TGC	p.R523C		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	523	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGGCCCTGGCGTACCACAGCA	0.597													A	28306907	G	A	28306907	3	1	283	1	0	0	0	0	1	0	0	0	269	1145	40	1	1245	1	ADAMTS5	21	28306907	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	94295	28306907	19822988	1359	146641											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31709589	31709589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcccttgaggcttgcaGgttggcagctctgggctaca	13	10	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:31709589G>T	uc002ynx.1	-	1	424	c.398C>A	c.(397-399)CCT>CAT	p.P133H		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	133						intermediate filament				ovary(2)	2						GAGGCTTGCAGGTTGGCAGCT	0.488													T	31709589	G	T	31709589	3	4	283	1	0	0	0	0	1	0	0	0	8544	1000	35	5	229	5	KRTAP27-1	21	31709589	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3402682	31709589	16420306	1360	146642											
SLC5A3	6526	broad.mit.edu	37	chr21	35468425	35468425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttaaagctcctgccaAtgtttatcatagttgtccca	6	11	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:35468425A>G	uc002yto.2	+	2	1440	c.928A>G	c.(928-930)ATG>GTG	p.M310V	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	310	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						GCTCCTGCCAATGTTTATCAT	0.473													G	35468425	A	G	35468425	3	3	283	1	0	0	0	0	1	0	0	0	14666	101	4	3	930	3	SLC5A3	21	35468425	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	3758836	35468425	12661470	1361	146643											
KCNJ6	3763	broad.mit.edu	37	chr21	39087042	39087042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaataaaaaagcagagaCgaacccgttgaggttggtaa	12	5	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:39087042C>T	uc011aej.1	-	3	471	c.418G>A	c.(418-420)GTC>ATC	p.V140I	KCNJ6_uc002ywo.2_Missense_Mutation_p.V140I	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	140					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	AAAGCAGAGACGAACCCGTTG	0.453													T	39087042	C	T	39087042	3	4	283	1	0	0	0	0	1	0	0	0	8055	536	19	1	861	1	KCNJ6	21	39087042	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3618617	39087042	9042853	1362	146644											
DSCAM	1826	broad.mit.edu	37	chr21	41450854	41450854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaggttcagcctcacgcGtgtggtgttgatgctggcaa	14	8	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:41450854G>A	uc002yyq.1	-	26	4923	c.4471C>T	c.(4471-4473)CGC>TGC	p.R1491C	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1491	Extracellular (Potential).|Fibronectin type-III 6.				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCCTCACGCGTGTGGTGTTG	0.587													A	41450854	G	A	41450854	3	1	283	1	0	0	0	0	1	0	0	0	4768	1145	40	1	1599	1	DSCAM	21	41450854	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2363812	41450854	6679041	1363	146645											
ABCG1	9619	broad.mit.edu	37	chr21	43716452	43716452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattttcttcatctccctcCgcctcattgcctattttgtc	5	14	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:43716452C>T	uc002zaq.2	+	15	2093	c.1987C>T	c.(1987-1989)CGC>TGC	p.R663C	ABCG1_uc002zan.2_Missense_Mutation_p.R653C|ABCG1_uc002zam.2_Missense_Mutation_p.R629C|ABCG1_uc002zao.2_Missense_Mutation_p.R648C|ABCG1_uc002zap.2_Missense_Mutation_p.R651C|ABCG1_uc002zar.2_Missense_Mutation_p.R662C|ABCG1_uc011aev.1_Missense_Mutation_p.R674C|uc002zau.2_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	663	ABC transmembrane type-2.|Helical; (Potential).				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			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	CATCTCCCTCCGCCTCATTGC	0.527													T	43716452	C	T	43716452	3	4	283	1	0	0	0	0	1	0	0	0	68	652	23	1	2213	1	ABCG1	21	43716452	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	2265598	43716452	4413443	1364	146646											
UBASH3A	53347	broad.mit.edu	37	chr21	43836627	43836627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccccaccaccagaggacGctggagcagctggccagagc	12	16	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:43836627G>A	uc002zbe.2	+	6	780	c.744G>A	c.(742-744)ACG>ACA	p.T248T	UBASH3A_uc002zbf.2_Silent_p.T210T|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.T210T	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	248						cytosol|nucleus				ovary(3)	3						ACCAGAGGACGCTGGAGCAGC	0.597													A	43836627	G	A	43836627	2	1	283	1	0	0	0	0	0	0	0	1	16836	1074	38	1		1	UBASH3A	21	43836627	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	120175	43836627	4293268	1365	146647											
TRAPPC10	7109	broad.mit.edu	37	chr21	45475599	45475599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgttgtgctctccgaccCcttgaaggactcttctcgaa	10	12	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:45475599C>A	uc002zea.2	+	5	672	c.503C>A	c.(502-504)CCC>CAC	p.P168H	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.P168H	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	168					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CTCTCCGACCCCTTGAAGGAC	0.493													A	45475599	C	A	45475599	3	1	283	1	0	0	0	0	1	0	0	0	16454	623	22	5	521	5	TRAPPC10	21	45475599	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1638972	45475599	2654296	1366	146648											
DNMT3L	29947	broad.mit.edu	37	chr21	45679387	45679387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagatggagcagtaggattGgtacccgtcatcgtcgtaca	13	9	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:45679387G>T	uc002zeg.1	-	5	761	c.277C>A	c.(277-279)CAA>AAA	p.Q93K	DNMT3L_uc002zeh.1_Missense_Mutation_p.Q93K	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	93	PHD-type; atypical.|ADD.				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			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAGTAGGATTGGTACCCGTCA	0.602													T	45679387	G	T	45679387	3	4	283	1	0	0	0	0	1	0	0	0	4678	1357	47	5	918	5	DNMT3L	21	45679387	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	203788	45679387	2450508	1367	146649											
COL6A2	1292	broad.mit.edu	37	chr21	47545859	47545859	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagccctcaagtttgcCtacgaccgcctcatcaagga	7	17	4	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:47545859C>A	uc002zia.1	+	26	2212	c.2130C>A	c.(2128-2130)GCC>GCA	p.A710A	COL6A2_uc002zhy.1_Silent_p.A710A|COL6A2_uc002zhz.1_Silent_p.A710A|COL6A2_uc002zib.1_Silent_p.A116A|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	710	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCAAGTTTGCCTACGACCGCC	0.612													A	47545859	C	A	47545859	2	1	283	1	0	0	0	0	0	0	0	1	3700	668	24	5		5	COL6A2	21	47545859	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1866472	47545859	584036	1368	146650											
FTCD	10841	broad.mit.edu	37	chr21	47570343	47570343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtagaccgtgtgcagtgCcgtgacctcaaagtccagaa	11	12	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:47570343C>A	uc002zif.2	-	6	777	c.733G>T	c.(733-735)GCA>TCA	p.A245S	FTCD_uc002zig.2_Missense_Mutation_p.A245S|FTCD_uc002zih.2_Missense_Mutation_p.A245S|FTCD_uc010gqf.2_Missense_Mutation_p.A245S|FTCD_uc010gqg.1_Missense_Mutation_p.A114S	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	245	Formiminotransferase C-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			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GTGTGCAGTGCCGTGACCTCA	0.612													A	47570343	C	A	47570343	3	1	283	1	0	0	0	0	1	0	0	0	6081	739	26	5	928	5	FTCD	21	47570343	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	24484	47570343	559552	1369	146651											
S100B	6285	broad.mit.edu	37	chr21	48022217	48022217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgggaaagctcattgtTgatgagctccttcagttcgg	12	7	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr21:48022217T>C	uc002zju.1	-	2	223	c.112A>G	c.(112-114)AAC>GAC	p.N38D	S100B_uc002zjv.1_Missense_Mutation_p.N38D	NM_006272	NP_006263	P04271	S100B_HUMAN	S100 calcium-binding protein, beta	38	EF-hand 1.				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				0	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)		AGCTCATTGTTGATGAGCTCC	0.448													C	48022217	T	C	48022217	3	2	283	1	0	0	0	0	1	0	0	0	13788	1812	63	3	174	3	S100B	21	48022217	Missense_Mutation	SNP	T	TCGA-HU-A4H8-01A-11D-A25D-08	451874	48022217	107678	1370	146652											
GAB4	128954	broad.mit.edu	37	chr22	17444639	17444639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggctggaagtccagggcCgcgtagtggatgttaccagt	15	10	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:17444639C>T	uc002zlw.2	-	9	1665	c.1557G>A	c.(1555-1557)GCG>GCA	p.A519A		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	519										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGTCCAGGGCCGCGTAGTGGA	0.642													T	17444639	C	T	17444639	2	4	283	1	0	0	0	0	0	0	0	1	6151	639	23	1		1	GAB4	22	17444639	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08		17444639	33859927	1371	146653											
CECR6	27439	broad.mit.edu	37	chr22	17601106	17601106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcgcccgctgccgcggcCgcccccaggccgccccccgc	11	25	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:17601106C>T	uc002zmb.2	-	1	1108	c.912G>A	c.(910-912)GCG>GCA	p.A304A	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	304	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ctgccgcggccgcccccaggc	0.478													T	17601106	C	T	17601106	2	4	283	1	0	0	0	0	0	0	0	1	3208	639	23	1		1	CECR6	22	17601106	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	156467	17601106	33703460	1372	146654											
BCL2L13	23786	broad.mit.edu	37	chr22	18210180	18210180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtctagactgtcccccgcCggtgagatgaagcccatgcc	11	14	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:18210180C>T	uc002zmw.2	+	7	1556	c.1338C>T	c.(1336-1338)GCC>GCT	p.A446A	BCL2L13_uc002zmx.2_Silent_p.A284A|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Silent_p.A284A|BCL2L13_uc011agk.1_Silent_p.A322A|BCL2L13_uc010gqz.2_Silent_p.A166A|BCL2L13_uc002zmz.2_Silent_p.A284A|BCL2L13_uc002zna.2_Silent_p.A166A	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	446	B; approximate.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TGTCCCCCGCCGGTGAGATGA	0.612													T	18210180	C	T	18210180	2	4	283	1	0	0	0	0	0	0	0	1	1371	639	23	1		1	BCL2L13	22	18210180	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	609074	18210180	33094386	1373	146655											
CDC45	8318	broad.mit.edu	37	chr22	19504377	19504377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaggcagcggaaagcAccagctcccggatgctgcac	13	12	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:19504377A>G	uc002zpr.2	+	17	1673	c.1597A>G	c.(1597-1599)ACC>GCC	p.T533A	CDC45_uc011aha.1_Missense_Mutation_p.T565A|CDC45_uc002zps.2_Missense_Mutation_p.T534A|CDC45_uc002zpt.2_Missense_Mutation_p.T487A	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	533					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			lung(1)	1						AGCGGAAAGCACCAGCTCCCG	0.597													G	19504377	A	G	19504377	3	3	283	1	0	0	0	0	1	0	0	0	3081	159	6	3	1763	3	CDC45	22	19504377	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	1294197	19504377	31800189	1374	146656											
TBX1	6899	broad.mit.edu	37	chr22	19754190	19754191	+	Frame_Shift_Ins	INS	-	-	A													cgaccactatctcggggccaINSagagccggccggcgccctac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:19754189_19754190C>CA	uc002zqa.1	+	8	1416_1417	c.1287_1288C>CA	c.(1285-1290)gccaagfs	p.A429fs	TBX1_uc002zqb.3_Intron|TBX1_uc002zqc.3_Intron	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	57					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)				ATCTCGGGGCCAAGAGCCGGCC	0.738													A	19754191	-	A	19754190	7	5	283	1	0	1	1	0	0	0	0	0	15647	131	5	0	1318	0	TBX1	22	19754190	Frame_Shift_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	249813	19754190	31550376	1375	146657											
ZDHHC8	29801	broad.mit.edu	37	chr22	20128528	20128528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggctggcctgggccGtagcaaggtgggcgcctggg	20	10	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:20128528G>A	uc002zrq.2	+	7	993	c.887G>A	c.(886-888)CGT>CAT	p.R296H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R296H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R102H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	296	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					GGCCTGGGCCGTAGCAAGGTG	0.622													A	20128528	G	A	20128528	3	1	283	1	0	0	0	0	1	0	0	0	17618	1145	40	1	913	1	ZDHHC8	22	20128528	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	374338	20128528	31176038	1376	146658											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130391	20130391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagggggcctgcatgcagCctacccgccatccccaccgc	11	20	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:20130391C>A	uc002zrq.2	+	10	1344	c.1238C>A	c.(1237-1239)GCC>GAC	p.A413D	ZDHHC8_uc002zrr.1_Missense_Mutation_p.A413D|ZDHHC8_uc010gsa.2_Missense_Mutation_p.A219D	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	413	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CTGCATGCAGCCTACCCGCCA	0.677													A	20130391	C	A	20130391	3	1	283	1	0	0	0	0	1	0	0	0	17618	739	26	5	1276	5	ZDHHC8	22	20130391	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1863	20130391	31174175	1377	146659											
ZNF74	7625	broad.mit.edu	37	chr22	20760329	20760329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggccctacaagtgcagcGcctgcgagaaggccttcagc	13	14	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:20760329G>A	uc010gsm.2	+	6	1218	c.1006G>A	c.(1006-1008)GCC>ACC	p.A336T	ZNF74_uc002zsg.2_Missense_Mutation_p.A265T|ZNF74_uc002zsh.2_Missense_Mutation_p.A336T|ZNF74_uc002zsi.2_Missense_Mutation_p.A265T|ZNF74_uc010gsn.2_Missense_Mutation_p.A265T	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	336	C2H2-type 4.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	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)			CAAGTGCAGCGCCTGCGAGAA	0.677													A	20760329	G	A	20760329	3	1	283	1	0	0	0	0	1	0	0	0	18124	1087	38	1	1024	1	ZNF74	22	20760329	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	629938	20760329	30544237	1378	146660											
PPIL2	23759	broad.mit.edu	37	chr22	22042393	22042393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccccacaggcacaggcaCgggtaggtactggtgctggg	16	12	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:22042393C>T	uc010gtj.1	+	14	1135	c.1019C>T	c.(1018-1020)ACG>ATG	p.T340M	PPIL2_uc002zvh.3_Missense_Mutation_p.T340M|PPIL2_uc002zvi.3_Missense_Mutation_p.T340M|PPIL2_uc002zvg.3_Missense_Mutation_p.T340M|PPIL2_uc011aij.1_Missense_Mutation_p.T319M|PPIL2_uc002zvk.3_Missense_Mutation_p.T86M	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	340	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					GGCACAGGCACGGGTAGGTAC	0.622													T	22042393	C	T	22042393	3	4	283	1	0	0	0	0	1	0	0	0	12327	536	19	1	1073	1	PPIL2	22	22042393	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1282064	22042393	29262173	1379	146661											
MAPK1	5594	broad.mit.edu	37	chr22	22162026	22162026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttctcatgtctgaagcGcagtaagatttttatctccc	8	9	3	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:22162026G>A	uc002zvn.2	-	2	469	c.229C>T	c.(229-231)CGC>TGC	p.R77C	MAPK1_uc002zvo.2_Missense_Mutation_p.R77C|MAPK1_uc010gtk.1_Missense_Mutation_p.R77C	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	77	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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TGTCTGAAGCGCAGTAAGATT	0.418													A	22162026	G	A	22162026	3	1	283	1	0	0	0	0	1	0	0	0	9271	1087	38	1	881	1	MAPK1	22	22162026	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	119633	22162026	29142540	1380	146662											
ZNF280A	129025	broad.mit.edu	37	chr22	22869780	22869780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttcaaaatgtttgaaaCgactggttttgaatttgaaa	8	4	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:22869780C>T	uc002zwe.2	-	2	428	c.175G>A	c.(175-177)GTT>ATT	p.V59I	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		ATGTTTGAAACGACTGGTTTT	0.443													T	22869780	C	T	22869780	3	4	283	1	0	0	0	0	1	0	0	0	17811	536	19	1	1457	1	ZNF280A	22	22869780	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	707754	22869780	28434786	1381	146663											
SMARCB1	6598	broad.mit.edu	37	chr22	24134057	24134057	+	Splice_Site	DEL	A	A	-													tagttgcatcgtcacatggtAaaaaaacaaaacctaacact							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:24134056_24134056TA>T	uc002zyd.3	+	2	412	c.205_splice	c.e2+2	p.D69_splice	SMARCB1_uc002zyg.2_Frame_Shift_Del_p.G69fs|SMARCB1_uc011ajb.1_Splice_Site_p.D69_splice|SMARCB1_uc002zya.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.G69fs|SMARCB1_uc002zyc.3_Splice_Site_p.D69_splice|SMARCB1_uc002zye.1_Frame_Shift_Del_p.G32fs|SMARCB1_uc002zyf.1_Splice_Site|SMARCB1_uc010gue.1_Splice_Site	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	78					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGTCACATGGTAAAAAAACAA	0.438			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							-	24134057	A	-	24134057	8	5	283	1	0	1	0	1	0	0	1	0	14774	363	13	0	214	0	SMARCB1	22	24134057	Splice_Site	DEL	A	TCGA-HU-A4H8-01A-11D-A25D-08	1264277	24134057	27170509	1382	146664											
CABIN1	23523	broad.mit.edu	37	chr22	24463060	24463060	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactttgtgcaccagtggGtttgaccgggccaaacacct	10	14	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:24463060G>T	uc002zzi.1	+	16	2287	c.2160G>T	c.(2158-2160)GGG>GGT	p.G720G	CABIN1_uc002zzj.1_Silent_p.G670G|CABIN1_uc002zzl.1_Silent_p.G720G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	720					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GCACCAGTGGGTTTGACCGGG	0.587													T	24463060	G	T	24463060	2	4	283	1	0	0	0	0	0	0	0	1	2528	1248	44	5		5	CABIN1	22	24463060	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	329003	24463060	26841506	1383	146665											
SGSM1	129049	broad.mit.edu	37	chr22	25251568	25251568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggccatccctctctgCccgcgactacgtggagtccc	10	18	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:25251568C>T	uc003abg.2	+	8	879	c.722C>T	c.(721-723)GCC>GTC	p.A241V	SGSM1_uc003abh.2_Missense_Mutation_p.A241V|SGSM1_uc010guu.1_Missense_Mutation_p.A241V|SGSM1_uc003abj.2_Missense_Mutation_p.A241V|SGSM1_uc003abi.1_Missense_Mutation_p.A216V|SGSM1_uc003abf.2_Missense_Mutation_p.A241V	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	241						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						TCCCTCTCTGCCCGCGACTAC	0.562													T	25251568	C	T	25251568	3	4	283	1	0	0	0	0	1	0	0	0	14222	739	26	2	752	2	SGSM1	22	25251568	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	788508	25251568	26052998	1384	146666											
CRYBB3	1417	broad.mit.edu	37	chr22	25601330	25601330	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtgccatcaacgggacGtaagggacccaaccctcacc	10	16	2	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:25601330G>A	uc003abo.1	+	5	542	c.470_splice	c.e5+1	p.T157_splice		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3						visual perception		protein binding|structural constituent of eye lens				0						TCAACGGGACGTAAGGGACCC	0.527													A	25601330	G	A	25601330	5	1	283	1	0	0	0	0	0	0	1	0	3912	1159	40	1	485	1	CRYBB3	22	25601330	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	349762	25601330	25703236	1385	146667											
MYO18B	84700	broad.mit.edu	37	chr22	26176142	26176142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacttcaacgctacaggcCgcatcacagctgctcagctc	9	15	3	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:26176142C>T	uc003abz.1	+	9	2438	c.2188C>T	c.(2188-2190)CGC>TGC	p.R730C	MYO18B_uc003aca.1_Missense_Mutation_p.R611C|MYO18B_uc010guy.1_Missense_Mutation_p.R611C|MYO18B_uc010guz.1_Missense_Mutation_p.R611C|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.R243C	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	730	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CGCTACAGGCCGCATCACAGC	0.647													T	26176142	C	T	26176142	3	4	283	1	0	0	0	0	1	0	0	0	10066	652	23	1	2218	1	MYO18B	22	26176142	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	574812	26176142	25128424	1386	146668											
ASPHD2	57168	broad.mit.edu	37	chr22	26839163	26839163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatttcatctttgctccGggacgatgagagtatttccc	9	10	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:26839163G>A	uc003acg.2	+	4	1498	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	367	Lumenal (Potential).				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			ovary(1)	1						TCTTTGCTCCGGGACGATGAG	0.597													A	26839163	G	A	26839163	2	1	283	1	0	0	0	0	0	0	0	1	1055	1103	39	1		1	ASPHD2	22	26839163	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	663021	26839163	24465403	1387	146669											
TPST2	8459	broad.mit.edu	37	chr22	26937081	26937081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaacttggagttggggaaCaggcgcgacaggtagaccga	17	7	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:26937081C>T	uc003acv.2	-	2	684	c.516G>A	c.(514-516)CTG>CTA	p.L172L	TPST2_uc003acw.2_Silent_p.L172L|TPST2_uc003acx.2_Silent_p.L172L|TPST2_uc011akf.1_Silent_p.L172L	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	172	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						AGTTGGGGAACAGGCGCGACA	0.612													T	26937081	C	T	26937081	2	4	283	1	0	0	0	0	0	0	0	1	16425	465	17	4		4	TPST2	22	26937081	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	97918	26937081	24367485	1388	146670											
ASCC2	84164	broad.mit.edu	37	chr22	30221196	30221196	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgaatttgcgggggacAtagcgcaggtaggagtccag	16	8	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30221196A>C	uc003agr.2	-	4	396	c.291T>G	c.(289-291)TAT>TAG	p.Y97*	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.Y97*|ASCC2_uc011akr.1_Nonsense_Mutation_p.Y44*	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TGCGGGGGACATAGCGCAGGT	0.557													C	30221196	A	C	30221196	4	2	283	1	0	0	0	0	0	1	0	0	1032	224	8	5	2050	5	ASCC2	22	30221196	Nonsense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	3284115	30221196	21083370	1389	146671											
MTMR3	8897	broad.mit.edu	37	chr22	30416523	30416523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacccaatgggcattgcGccaatggggaggctggtagg	15	11	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30416523G>A	uc003agv.3	+	17	3203	c.2875G>A	c.(2875-2877)GCC>ACC	p.A959T	MTMR3_uc003agu.3_Missense_Mutation_p.A959T|MTMR3_uc003agw.3_Missense_Mutation_p.A959T	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	959					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)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGGCATTGCGCCAATGGGGA	0.577													A	30416523	G	A	30416523	3	1	283	1	0	0	0	0	1	0	0	0	9945	1087	38	1	2933	1	MTMR3	22	30416523	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	195327	30416523	20888043	1390	146672											
GATSL3	652968	broad.mit.edu	37	chr22	30681648	30681648	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgccgctggaggacctcGatgacgctgccgataccgtc	13	15	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30681648G>A	uc003ahd.2	-	9	1081	c.951C>T	c.(949-951)ATC>ATT	p.I317I	GATSL3_uc003ahc.2_Silent_p.I279I|GATSL3_uc003ahe.2_Silent_p.I280I|GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.I452I	NM_001037666	NP_001032755	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	317										breast(1)	1						GGAGGACCTCGATGACGCTGC	0.677													A	30681648	G	A	30681648	2	1	283	1	0	0	0	0	0	0	0	1	6265	1048	37	1		1	GATSL3	22	30681648	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	265125	30681648	20622918	1391	146673											
MTP18	51537	broad.mit.edu	37	chr22	30823345	30823345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaagtggaccaccaccgCgcttgggctgttgaccatcc	11	16	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:30823345C>T	uc003ahw.1	+	3	531	c.383C>T	c.(382-384)GCG>GTG	p.A128V	SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.A290V|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Intron	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN	mitochondrial protein 18 kDa isoform a	128					apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding				0						ACCACCACCGCGCTTGGGCTG	0.597													T	30823345	C	T	30823345	3	4	283	1	0	0	0	0	1	0	0	0	9955	768	27	1	393	1	MTP18	22	30823345	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	141697	30823345	20481221	1392	146674											
TCN2	6948	broad.mit.edu	37	chr22	31019016	31019016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgatggggaaagcggccGgagaaagggagttctggcag	19	7	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:31019016G>A	uc003aip.1	+	8	1326	c.1168G>A	c.(1168-1170)GGA>AGA	p.G390R	TCN2_uc003aiq.1_Missense_Mutation_p.G386R|TCN2_uc003air.1_Missense_Mutation_p.G363R	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	390					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAAGCGGCCGGAGAAAGGGA	0.562													A	31019016	G	A	31019016	3	1	283	1	0	0	0	0	1	0	0	0	15704	1117	39	1	1198	1	TCN2	22	31019016	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	195671	31019016	20285550	1393	146675											
SFI1	9814	broad.mit.edu	37	chr22	31998270	31998271	+	Frame_Shift_Del	DEL	AG	AG	-													catcgagaaaaccgcctggcAgagagaatggtaaatggctg							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:31998269_31998270CAG>C	uc003ale.3	+	15	2009_2010	c.1616_1617CAG>C	c.(1615-1617)gcafs	p.A539fs	SFI1_uc003ald.1_Frame_Shift_Del_p.A515fs|SFI1_uc003alf.3_Frame_Shift_Del_p.A508fs|SFI1_uc003alg.3_Frame_Shift_Del_p.A457fs|SFI1_uc011alp.2_Frame_Shift_Del_p.A457fs|SFI1_uc011alq.2_Frame_Shift_Del_p.A484fs|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	539					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						AACCGCCTGGCAGAGAGAATGG	0.49													-	31998271	AG	-	31998270	7	5	283	1	0	1	0	1	0	0	0	0	14156	175	7	0	1675	0	SFI1	22	31998270	Frame_Shift_Del	DEL	AG	TCGA-HU-A4H8-01A-11D-A25D-08	979254	31998270	19306296	1394	146676											
CSF2RB	1439	broad.mit.edu	37	chr22	37332682	37332682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggggcagccgcttccCtgagctggaggggtgagtgg	20	10	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:37332682C>T	uc003aqa.3	+	13	1773	c.1556C>T	c.(1555-1557)CCT>CTT	p.P519L	CSF2RB_uc003aqc.3_Missense_Mutation_p.P525L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	519	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	AGCCGCTTCCCTGAGCTGGAG	0.637													T	37332682	C	T	37332682	3	4	283	1	0	0	0	0	1	0	0	0	3935	681	24	4	1602	4	CSF2RB	22	37332682	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	5334412	37332682	13971884	1395	146677											
SSTR3	6753	broad.mit.edu	37	chr22	37603572	37603572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccccagcatgaagagctCgtcggccagcgccaggttga	13	14	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:37603572C>T	uc003ara.2	-	2	333	c.271G>A	c.(271-273)GAG>AAG	p.E91K	SSTR3_uc003arb.2_Missense_Mutation_p.E91K	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	91	Helical; Name=2; (Potential).				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			lung(1)	1						ATGAAGAGCTCGTCGGCCAGC	0.652													T	37603572	C	T	37603572	3	4	283	1	0	0	0	0	1	0	0	0	15198	893	31	1	989	1	SSTR3	22	37603572	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	270890	37603572	13700994	1396	146678											
CARD10	29775	broad.mit.edu	37	chr22	37912113	37912113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgcctcccagtcctccCgcagccgttgacagcgctcc	9	21	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:37912113C>T	uc003asx.1	-	3	569	c.566G>A	c.(565-567)CGG>CAG	p.R189Q	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.R189Q	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	189	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					CCAGTCCTCCCGCAGCCGTTG	0.682													T	37912113	C	T	37912113	3	4	283	1	0	0	0	0	1	0	0	0	2644	652	23	1	2604	1	CARD10	22	37912113	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	308541	37912113	13392453	1397	146679											
TRIOBP	11078	broad.mit.edu	37	chr22	38120532	38120532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcctgtgcccgacgggacGatcccagagcctcctctcct	9	18	1	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:38120532G>A	uc003atr.2	+	7	2240	c.1969G>A	c.(1969-1971)GAT>AAT	p.D657N	TRIOBP_uc003atu.2_Missense_Mutation_p.D485N|TRIOBP_uc003atq.1_Missense_Mutation_p.D657N|TRIOBP_uc003ats.1_Missense_Mutation_p.D485N	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	657					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)	1	Melanoma(58;0.0574)					CCGACGGGACGATCCCAGAGC	0.592													A	38120532	G	A	38120532	3	1	283	1	0	0	0	0	1	0	0	0	16550	1058	37	1	1987	1	TRIOBP	22	38120532	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	208419	38120532	13184034	1398	146680											
GALR3	8484	broad.mit.edu	37	chr22	38220915	38220915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaggacgcgcgccgccGcgccctggacgtggccacct	16	17	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:38220915G>A	uc003aub.1	+	2	570	c.545G>A	c.(544-546)CGC>CAC	p.R182H		NM_003614	NP_003605	O60755	GALR3_HUMAN	galanin receptor 3	182	Extracellular (Potential).				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity				0	Melanoma(58;0.045)					GCGCGCCGCCGCGCCCTGGAC	0.746													A	38220915	G	A	38220915	3	1	283	1	0	0	0	0	1	0	0	0	6229	1087	38	1	551	1	GALR3	22	38220915	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	100383	38220915	13083651	1399	146681											
SUN2	25777	broad.mit.edu	37	chr22	39146931	39146931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcctcagaggagtagccCgaggaagagcccaggaagtc	14	11	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:39146931C>T	uc003awh.1	-	5	680	c.396G>A	c.(394-396)TCG>TCA	p.S132S	SUN2_uc011anz.1_Silent_p.S167S|SUN2_uc011aoa.1_Intron|SUN2_uc003awi.1_Silent_p.S132S|SUN2_uc010gxq.1_Silent_p.S132S|SUN2_uc010gxr.1_Silent_p.S132S|SUN2_uc010gxs.1_Silent_p.S132S	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	132	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				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			large_intestine(1)|skin(1)	2						AGGAGTAGCCCGAGGAAGAGC	0.677													T	39146931	C	T	39146931	2	4	283	1	0	0	0	0	0	0	0	1	15389	639	23	1		1	SUN2	22	39146931	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	926016	39146931	12157635	1400	146682											
SUN2	25777	broad.mit.edu	37	chr22	39148568	39148568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaccgagctccctccGctgctgctgctgccgtcatc	9	20	1	0	rs138973782		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:39148568G>A	uc003awh.1	-	3	350	c.66C>T	c.(64-66)AGC>AGT	p.S22S	SUN2_uc011anz.1_Silent_p.S57S|SUN2_uc011aoa.1_Silent_p.S57S|SUN2_uc003awi.1_Silent_p.S22S|SUN2_uc010gxq.1_Silent_p.S22S|SUN2_uc010gxr.1_Silent_p.S22S|SUN2_uc010gxs.1_Silent_p.S22S	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	22	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				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			large_intestine(1)|skin(1)	2						AGCTCCCTCCGCTGCTGCTGC	0.622													A	39148568	G	A	39148568	2	1	283	1	0	0	0	0	0	0	0	1	15389	1078	38	1		1	SUN2	22	39148568	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	1637	39148568	12155998	1401	146683											
APOBEC3A	200315	broad.mit.edu	37	chr22	39357593	39357593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgagactgcgtatcttcGctgcccgcatctatgattac	9	12	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:39357593G>A	uc003awn.2	+	3	546	c.376G>A	c.(376-378)GCT>ACT	p.A126T	APOBEC3A_uc011aob.1_Missense_Mutation_p.A108T|APOBEC3A_uc011aoc.1_Missense_Mutation_p.A126T	NM_145699	NP_663745	P31941	ABC3A_HUMAN	phorbolin 1	126					cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					GCGTATCTTCGCTGCCCGCAT	0.562													A	39357593	G	A	39357593	3	1	283	1	0	0	0	0	1	0	0	0	789	1087	38	1	386	1	APOBEC3A	22	39357593	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	209025	39357593	11946973	1402	146684											
MKL1	57591	broad.mit.edu	37	chr22	40816542	40816542	+	Frame_Shift_Del	DEL	G	G	-													tagtggagaggctgcgtactGggggggtcccgctgcttccc					rs34028511		TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:40816541_40816541TG>T	uc003ayv.1	-	7	1128	c.921_921CA>A	c.(919-921)ccafs	p.P307fs	MKL1_uc010gyf.1_Frame_Shift_Del_p.P257fs|MKL1_uc003ayw.1_Frame_Shift_Del_p.P307fs|MKL1_uc010gye.1_Frame_Shift_Del_p.P307fs	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	307					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	p.V308fs*9(1)		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						GGCTGCGTACTGGGGGGGTCC	0.657			T	RBM15	acute megakaryocytic leukemia								-	40816542	G	-	40816542	7	5	283	1	0	1	0	1	0	0	0	0	9601	1348	47	0	1895	0	MKL1	22	40816542	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1458949	40816542	10488024	1403	146685											
RRP7A	27341	broad.mit.edu	37	chr22	42914119	42914119	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatagaggtagtgagaAgcctgttgcttttcagagaa	11	7	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:42914119A>C	uc003bcq.2	-	2	124	c.108T>G	c.(106-108)GCT>GCG	p.A36A	SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_5'Flank	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A	36							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2						GGTAGTGAGAAGCCTGTTGCT	0.537													C	42914119	A	C	42914119	2	2	283	1	0	0	0	0	0	0	0	1	13689	59	3	5		5	RRP7A	22	42914119	Silent	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	2097577	42914119	8390447	1404	146686											
EFCAB6	64800	broad.mit.edu	37	chr22	44028099	44028099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcggcggagtggtttcCggccctctcattggaggatc	16	11	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:44028099C>T	uc003bdy.1	-	19	2333	c.2118G>A	c.(2116-2118)CCG>CCA	p.P706P	EFCAB6_uc003bdz.1_Silent_p.P554P|EFCAB6_uc010gzi.1_Silent_p.P554P|EFCAB6_uc010gzj.1_Silent_p.P4P|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GAGTGGTTTCCGGCCCTCTCA	0.433													T	44028099	C	T	44028099	2	4	283	1	0	0	0	0	0	0	0	1	4939	639	23	1		1	EFCAB6	22	44028099	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	1113980	44028099	7276467	1405	146687											
TBC1D22A	25771	broad.mit.edu	37	chr22	47370253	47370253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgtgcaacatcgaggcCgacacctactggtgcatgag	13	11	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:47370253C>T	uc003bib.2	+	9	1218	c.1083C>T	c.(1081-1083)GCC>GCT	p.A361A	TBC1D22A_uc010haf.2_Silent_p.A331A|TBC1D22A_uc003bic.2_Silent_p.A302A|TBC1D22A_uc003bie.2_Silent_p.A283A|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Silent_p.A314A	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	361	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		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)		ACATCGAGGCCGACACCTACT	0.662													T	47370253	C	T	47370253	2	4	283	1	0	0	0	0	0	0	0	1	15608	639	23	1		1	TBC1D22A	22	47370253	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3342154	47370253	3934313	1406	146688											
ZBED4	9889	broad.mit.edu	37	chr22	50278666	50278666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttccagcagaataaaaaGgtcatgaaaagactgaagtc	8	7	2	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50278666G>T	uc003bix.2	+	2	1826	c.1356G>T	c.(1354-1356)AAG>AAT	p.K452N		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	452						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		AGAATAAAAAGGTCATGAAAA	0.567													T	50278666	G	T	50278666	3	4	283	1	0	0	0	0	1	0	0	0	17517	991	35	5	1358	5	ZBED4	22	50278666	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2908413	50278666	1025900	1407	146689											
TTLL8	164714	broad.mit.edu	37	chr22	50485624	50485624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaggctgtctttgcGtagtggttcagcatctggtc	15	7	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50485624G>A	uc011ark.1	-	4	366	c.366C>T	c.(364-366)TAC>TAT	p.Y122Y		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		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)		CTGTCTTTGCGTAGTGGTTCA	0.572													A	50485624	G	A	50485624	2	1	283	1	0	0	0	0	0	0	0	1	16730	1140	40	1		1	TTLL8	22	50485624	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	206958	50485624	818942	1408	146690											
MOV10L1	54456	broad.mit.edu	37	chr22	50591531	50591531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgatgctgccctcaCggctgttctaccacagggaa	10	15	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50591531C>T	uc003bjj.2	+	22	3033	c.2950C>T	c.(2950-2952)CGG>TGG	p.R984W	MOV10L1_uc003bjk.3_Missense_Mutation_p.R984W|MOV10L1_uc011arp.1_Missense_Mutation_p.R964W|MOV10L1_uc003bjl.2_Missense_Mutation_p.R111W|MOV10L1_uc003bjm.1_Missense_Mutation_p.R27W	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	984					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		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)		GCTGCCCTCACGGCTGTTCTA	0.592													T	50591531	C	T	50591531	3	4	283	1	0	0	0	0	1	0	0	0	9719	527	19	1	3089	1	MOV10L1	22	50591531	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	105907	50591531	713035	1409	146691											
KLHDC7B	113730	broad.mit.edu	37	chr22	50988085	50988085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggggggcttcctgtaccGcttcgacctgctgcggggcg	16	13	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:50988085G>A	uc003bmi.2	+	1	1624	c.1490G>A	c.(1489-1491)CGC>CAC	p.R497H		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	497	Kelch 5.									central_nervous_system(1)	1		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)		TTCCTGTACCGCTTCGACCTG	0.697													A	50988085	G	A	50988085	3	1	283	1	0	0	0	0	1	0	0	0	8361	1087	38	1	1492	1	KLHDC7B	22	50988085	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	396554	50988085	316481	1410	146692											
CPT1B	1375	broad.mit.edu	37	chr22	51014627	51014628	+	Splice_Site	DEL	AT	AT	-													gcccaggggcaggaacttacAtagttacttgcccaccatga							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chr22:51014626_51014627CAT>C	uc003bmm.3	-	6	798	c.699_splice	c.e6+1	p.Y233_splice	CPT1B_uc003bmk.4_Splice_Site_p.Y233_splice|CPT1B_uc003bml.3_Splice_Site_p.Y233_splice|CPT1B_uc003bmo.3_Splice_Site_p.Y233_splice|CPT1B_uc011asa.2_Splice_Site_p.Y199_splice|CPT1B_uc003bmn.3_Splice_Site_p.Y233_splice|CPT1B_uc011asb.2_Splice_Site_p.Y233_splice|CPT1B_uc003bmp.3_Splice_Site_p.Y30_splice|CPT1B_uc021wsc.1_Splice_Site	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		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;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CAGGAACTTACATAGTTACTTG	0.564											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	51014628	AT	-	51014627	8	5	283	1	0	1	0	1	0	0	1	0	3832	231	8	0	1675	0	CPT1B	22	51014627	Splice_Site	DEL	AT	TCGA-HU-A4H8-01A-11D-A25D-08	26542	51014627	289939	1411	146693											
FRMPD4	9758	broad.mit.edu	37	chrX	12735698	12735698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactcttctgaaatgactgAgagttctgaactggccacag	9	9	3	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:12735698A>G	uc004cuz.1	+	16	3259	c.2753A>G	c.(2752-2754)GAG>GGG	p.E918G	FRMPD4_uc011mij.1_Missense_Mutation_p.E910G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	918					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GAAATGACTGAGAGTTCTGAA	0.498													G	12735698	A	G	12735698	3	3	283	1	0	0	0	0	1	0	0	0	6059	304	11	3	2815	3	FRMPD4	23	12735698	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08		12735698	142534862	1412	146694											
REPS2	9185	broad.mit.edu	37	chrX	17165605	17165605	+	Frame_Shift_Del	DEL	C	C	-													gtccggtcactgtgttgtgaCccccccatggttcaagtgac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:17165604_17165604AC>A	uc004cxv.1	+	17	2154	c.1983_1983AC>A	c.(1981-1983)tgafs	p.*661fs	REPS2_uc004cxw.1_Frame_Shift_Del_p.*660fs|REPS2_uc011miw.1_Frame_Shift_Del_p.*459fs	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	0					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTGTGTTGTGACCCCCCCATG	0.418													-	17165605	C	-	17165605	7	5	283	1	0	1	0	1	0	0	0	0	13229	522	18	0	2054	0	REPS2	23	17165605	Frame_Shift_Del	DEL	C	TCGA-HU-A4H8-01A-11D-A25D-08	4429907	17165605	138104955	1413	146695											
NHS	4810	broad.mit.edu	37	chrX	17744539	17744539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtctccatcagacaaagcGgacactagctctcacttttc	6	13	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:17744539G>A	uc004cxx.2	+	6	2588	c.2250G>A	c.(2248-2250)GCG>GCA	p.A750A	NHS_uc011mix.1_Silent_p.A771A|NHS_uc004cxy.2_Silent_p.A594A|NHS_uc004cxz.2_Silent_p.A573A|NHS_uc004cya.2_Silent_p.A473A	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	750						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					CAGACAAAGCGGACACTAGCT	0.483													A	17744539	G	A	17744539	2	1	283	1	0	0	0	0	0	0	0	1	10411	1103	39	1		1	NHS	23	17744539	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	578934	17744539	137526021	1414	146696											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973926	29973926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaccagtatatccagtGtgatatggtgacagaaaagc	13	6	0	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:29973926G>A	uc004dby.2	+	11	2588	c.2080G>A	c.(2080-2082)GTG>ATG	p.V694M		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	694	Cytoplasmic (Potential).				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			ovary(3)|lung(1)|pancreas(1)	5						TATATCCAGTGTGATATGGTG	0.537													A	29973926	G	A	29973926	3	1	283	1	0	0	0	0	1	0	0	0	7661	1377	48	4	2118	4	IL1RAPL1	23	29973926	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	12229387	29973926	125296634	1415	146697											
FAM47C	442444	broad.mit.edu	37	chrX	37029394	37029394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaaaagcctgatgaacccGacattcttgacggtctttat	8	9	2	4			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:37029394G>A	uc004ddl.1	+	1	2925	c.2911G>A	c.(2911-2913)GAC>AAC	p.D971N		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	971										ovary(3)	3						TGATGAACCCGACATTCTTGA	0.453													A	37029394	G	A	37029394	3	1	283	1	0	0	0	0	1	0	0	0	5571	1058	37	1	2913	1	FAM47C	23	37029394	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	7055468	37029394	118241166	1416	146698											
ATP6AP2	10159	broad.mit.edu	37	chrX	40458981	40458981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctaagatccttgttgaCgctctgcaaaaggtaaatat	8	8	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:40458981C>T	uc004det.2	+	7	828	c.726C>T	c.(724-726)GAC>GAT	p.D242D	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Silent_p.D166D|ATP6AP2_uc011mkm.1_Silent_p.D210D|ATP6AP2_uc011mkn.1_Silent_p.D164D|ATP6AP2_uc004deu.1_Silent_p.D107D	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	242	Extracellular (Potential).				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				0						TCCTTGTTGACGCTCTGCAAA	0.398													T	40458981	C	T	40458981	2	4	283	1	0	0	0	0	0	0	0	1	1167	535	19	1		1	ATP6AP2	23	40458981	Silent	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	3429587	40458981	114811579	1417	146699											
CCNB3	85417	broad.mit.edu	37	chrX	50053923	50053923	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagccattagccttgaagatGtctaccatcaatgaggcagt	9	9	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:50053923G>C	uc004dox.3	+	6	3052	c.2754G>C	c.(2752-2754)ATG>ATC	p.M918I	CCNB3_uc004doy.2_Missense_Mutation_p.M918I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	918					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CCTTGAAGATGTCTACCATCA	0.468													C	50053923	G	C	50053923	3	2	283	1	0	0	0	0	1	0	0	0	2914	1377	48	5	2768	5	CCNB3	23	50053923	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	9594942	50053923	105216637	1418	146700											
ZXDB	158586	broad.mit.edu	37	chrX	57620306	57620307	+	Frame_Shift_Del	DEL	TC	TC	-													tcagtgatgcagagatagtgTctctcttctctgatgtacct							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:57620306_57620307delTC	uc004dvd.2	+	1	2038_2039	c.1825_1826delTC	c.(1825-1827)TCTfs	p.S609fs		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	609	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						AGAGATAGTGTCTCTCTTCTCT	0.475													-	57620307	TC	-	57620306	7	5	283	1	0	1	0	1	0	0	0	0	18248	1667	58	0	1827	0	ZXDB	23	57620306	Frame_Shift_Del	DEL	TC	TCGA-HU-A4H8-01A-11D-A25D-08	7566383	57620306	97650254	1419	146701											
ZXDA	7789	broad.mit.edu	37	chrX	57936601	57936601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaggaagaagtcgtcgCcgccgccgctaggttgatgg	15	12	0	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:57936601C>T	uc004dve.2	-	1	467	c.254G>A	c.(253-255)GGC>GAC	p.G85D		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	85					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			ovary(1)	1						GAAGTCGTCGCCGCCGCCGCT	0.627													T	57936601	C	T	57936601	3	4	283	1	0	0	0	0	1	0	0	0	18247	739	26	2	2149	2	ZXDA	23	57936601	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	316295	57936601	97333959	1420	146702											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70521660	70521661	+	Frame_Shift_Del	DEL	TC	TC	-													attcaaccaacgcttccatgTctctactctgtcgtaacaaa							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:70521660_70521661delTC	uc004dzr.1	+	1	33_34	c.4_5delTC	c.(4-6)TCTfs	p.S2fs	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	2					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					CGCTTCCATGTCTCTACTCTGT	0.51													-	70521661	TC	-	70521660	7	5	283	1	0	1	0	1	0	0	0	0	7892	1667	58	0	6	0	ITGB1BP2	23	70521660	Frame_Shift_Del	DEL	TC	TCGA-HU-A4H8-01A-11D-A25D-08	12585059	70521660	84748900	1421	146703											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70524391	70524391	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaattcttttctctcaGcttcatgtccacattgtctt	4	12	5	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:70524391G>A	uc004dzr.1	+	10	783	c.754_splice	c.e10-1	p.L252_splice	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Splice_Site_p.L234_splice	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2						muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					TTTTCTCTCAGCTTCATGTCC	0.488													A	70524391	G	A	70524391	5	1	283	1	0	0	0	0	0	0	1	0	7892	985	34	2	791	2	ITGB1BP2	23	70524391	Splice_Site	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	2731	70524391	84746169	1422	146704											
COX7B	1349	broad.mit.edu	37	chrX	77158170	77158170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaacaatggcaaggcAgagccaccagaaacgtacac	9	12	1	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:77158170A>G	uc004ecu.1	+	2	161	c.71A>G	c.(70-72)CAG>CGG	p.Q24R		NM_001866	NP_001857	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb precursor	24					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						ATGGCAAGGCAGAGCCACCAG	0.368													G	77158170	A	G	77158170	3	3	283	1	0	0	0	0	1	0	0	0	3782	188	7	3	77	3	COX7B	23	77158170	Missense_Mutation	SNP	A	TCGA-HU-A4H8-01A-11D-A25D-08	6633779	77158170	78112390	1423	146705											
ATP7A	538	broad.mit.edu	37	chrX	77289155	77289155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatttccaggttgtgccagGctgtggtattagctgtaaag	13	6	0	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:77289155G>T	uc004ecx.3	+	17	3507	c.3347G>T	c.(3346-3348)GGC>GTC	p.G1116V		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1116	Cytoplasmic (Potential).				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|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				0						GTTGTGCCAGGCTGTGGTATT	0.388													T	77289155	G	T	77289155	3	4	283	1	0	0	0	0	1	0	0	0	1190	1203	42	5	3409	5	ATP7A	23	77289155	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	130985	77289155	77981405	1424	146706											
DACH2	117154	broad.mit.edu	37	chrX	86067899	86067899	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaataatgaagtcacccttGgacaagatacagctgactcc	7	12	1	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:86067899G>C	uc004eew.2	+	8	1451	c.1281G>C	c.(1279-1281)TTG>TTC	p.L427F	DACH2_uc004eex.2_Missense_Mutation_p.L414F|DACH2_uc010nmq.2_Missense_Mutation_p.L293F|DACH2_uc011mra.1_Missense_Mutation_p.L260F|DACH2_uc010nmr.2_Missense_Mutation_p.L208F|DACH2_uc004eey.2_Missense_Mutation_p.L110F|DACH2_uc004eez.2_Missense_Mutation_p.L110F	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						AGTCACCCTTGGACAAGATAC	0.443													C	86067899	G	C	86067899	3	2	283	1	0	0	0	0	1	0	0	0	4221	1339	47	5	1311	5	DACH2	23	86067899	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	8778744	86067899	69202661	1425	146707											
TCEAL5	340543	broad.mit.edu	37	chrX	102529191	102529191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgcttttcggcggcccGcggctggctctctggcttgg	17	14	1	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:102529191G>A	uc004ejz.1	-	3	596	c.301C>T	c.(301-303)CGG>TGG	p.R101W		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						TCGGCGGCCCGCGGCTGGCTC	0.592													A	102529191	G	A	102529191	3	1	283	1	0	0	0	0	1	0	0	0	15671	1086	38	1	323	1	TCEAL5	23	102529191	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	16461292	102529191	52741369	1426	146708											
FAM199X	139231	broad.mit.edu	37	chrX	103430850	103430850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaagaaaaacaagcaccGgaatttagatgaactccctt	6	8	0	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:103430850G>A	uc004elw.2	+	3	687	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	FAM199X_uc004elx.2_5'UTR	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	174										ovary(1)	1						AACAAGCACCGGAATTTAGAT	0.413													A	103430850	G	A	103430850	3	1	283	1	0	0	0	0	1	0	0	0	5530	1116	39	1	531	1	FAM199X	23	103430850	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	901659	103430850	51839710	1427	146709											
TRPC5	7224	broad.mit.edu	37	chrX	111090507	111090507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggatatcaagcagcatgCgtcccaaagagatctgcaga	11	9	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:111090507C>T	uc004epl.1	-	6	2454	c.1535G>A	c.(1534-1536)CGC>CAC	p.R512H	TRPC5_uc004epm.1_Missense_Mutation_p.R512H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	512	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						AAGCAGCATGCGTCCCAAAGA	0.438													T	111090507	C	T	111090507	3	4	283	1	0	0	0	0	1	0	0	0	16579	768	27	1	1410	1	TRPC5	23	111090507	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	7659657	111090507	44180053	1428	146710											
RHOXF2B	727940	broad.mit.edu	37	chrX	119293217	119293217	+	Frame_Shift_Del	DEL	G	G	-													cgcgcccacagggcgccgtcGgggggctggagcctggcaac							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:119293217delG	uc004esl.3	+	2	566	c.376delG	c.(376-378)GGGfs	p.G126fs		NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCGCCGTCGGGGGGCTGGA	0.662													-	119293217	G	-	119293217	7	5	283	1	0	1	0	1	0	0	0	0	13349	1116	39	0	1265	0	RHOXF2B	23	119293217	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	8202710	119293217	35977343	1429	146711											
ODZ1	10178	broad.mit.edu	37	chrX	123526014	123526014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttcctctttgaataaacGtcaccaatcccgaaggtgaa	7	11	2	2			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:123526014G>A	uc004euj.2	-	27	5619	c.5555C>T	c.(5554-5556)ACG>ATG	p.T1852M	ODZ1_uc011muj.1_Missense_Mutation_p.T1858M|ODZ1_uc010nqy.2_Missense_Mutation_p.T1859M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1852	Extracellular (Potential).|YD 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTGAATAAACGTCACCAATCC	0.408													A	123526014	G	A	123526014	3	1	283	1	0	0	0	0	1	0	0	0	10834	1145	40	1	2642	1	ODZ1	23	123526014	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	4232797	123526014	31744546	1430	146712											
ZIC3	7547	broad.mit.edu	37	chrX	136649856	136649856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgccccttcccgggctgcGggaagatctttgcccgttct	11	15	2	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:136649856G>A	uc004fak.2	+	1	1511	c.1006G>A	c.(1006-1008)GGG>AGG	p.G336R		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	336	C2H2-type 3.|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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CCCGGGCTGCGGGAAGATCTT	0.597													A	136649856	G	A	136649856	3	1	283	1	0	0	0	0	1	0	0	0	17677	1116	39	1	1008	1	ZIC3	23	136649856	Missense_Mutation	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	13123842	136649856	18620704	1431	146713											
FGF13	2258	broad.mit.edu	37	chrX	137939823	137939823	+	Frame_Shift_Del	DEL	G	G	-													taatgtattcctgtgtgccaGggggggcgtcatccagaact							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:137939823delG	uc004faq.2	-	2	244	c.68delC	c.(67-69)CCTfs	p.P23fs	FGF13_uc011mwi.1_5'UTR|FGF13_uc004far.2_5'UTR|FGF13_uc011mwj.1_Frame_Shift_Del_p.P23fs|FGF13_uc011mwk.1_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3	Error:Variant_position_missing_in_Q92913_after_alignment					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTGTGTGCCAGGGGGGGCGTC	0.433													-	137939823	G	-	137939823	7	5	283	1	0	1	0	1	0	0	0	0	5842	1000	35	0	942	0	FGF13	23	137939823	Frame_Shift_Del	DEL	G	TCGA-HU-A4H8-01A-11D-A25D-08	1289967	137939823	17330737	1432	146714											
AFF2	2334	broad.mit.edu	37	chrX	148055041	148055041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaattatgctgatgccgCcctctccttcactgaatgtg	9	11	2	3			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:148055041C>T	uc004fcp.2	+	16	3787	c.3308C>T	c.(3307-3309)GCC>GTC	p.A1103V	AFF2_uc004fcq.2_Missense_Mutation_p.A1093V|AFF2_uc004fcr.2_Missense_Mutation_p.A1064V|AFF2_uc011mxb.1_Missense_Mutation_p.A1068V|AFF2_uc004fcs.2_Missense_Mutation_p.A1068V|AFF2_uc011mxc.1_Missense_Mutation_p.A744V	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1103					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGATGCCGCCCTCTCCTTC	0.463													T	148055041	C	T	148055041	3	4	283	1	0	0	0	0	1	0	0	0	357	739	26	2	3425	2	AFF2	23	148055041	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	10115218	148055041	7215519	1433	146715											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639326	+	In_Frame_Ins	INS	-	-	CAG													taatcttctaagccagcaacINSagcagcagcagcagcagcag							TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:149639324_149639325A>ACAG	uc011mxu.2	+	2	1714_1715	c.1404_1405A>ACAG	c.(1402-1407)caacag>caACAGag	p.468_469QQ>QQ	MAMLD1_uc011mxt.1_In_Frame_Ins_p.455_456QQ>QQ|MAMLD1_uc004fee.2_In_Frame_Ins_p.493_494QQ>QQ|MAMLD1_uc011mxv.2_In_Frame_Ins_p.468_469QQ>QQ|MAMLD1_uc011mxw.2_In_Frame_Ins_p.420_421QQ>QQ	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	493					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)					TAAGCcagcaacagcagcagca	0.54													CAG	149639326	-	CAG	149639325	7	5	283	1	0	1	1	0	0	0	0	0	9208	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Ins	INS	-	TCGA-HU-A4H8-01A-11D-A25D-08	1584284	149639325	5631235	1434	146716											
HAUS7	55559	broad.mit.edu	37	chrX	152719895	152719895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccagcagatctgctcGccttgctgcttcttcacggt	8	17	3	1			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:152719895G>A	uc004fho.1	-	9	1590	c.1032C>T	c.(1030-1032)GGC>GGT	p.G344G	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Silent_p.G403G|HAUS7_uc004fhp.1_RNA	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	344					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						AGATCTGCTCGCCTTGCTGCT	0.552													A	152719895	G	A	152719895	2	1	283	1	0	0	0	0	0	0	0	1	6971	1074	38	1		1	HAUS7	23	152719895	Silent	SNP	G	TCGA-HU-A4H8-01A-11D-A25D-08	3080570	152719895	2550665	1435	146717											
PLXNA3	55558	broad.mit.edu	37	chrX	153694759	153694759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcccagccgtggcccggCgtccgggggcacacggctta	16	15	0	0			TCGA-HU-A4H8-01A-11D-A25D-08	TCGA-HU-A4H8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e6d3704-3182-409f-8aa5-b5956ec79a80	a926e4a4-f9e1-4732-a285-d82ea4c33f4d	g.chrX:153694759C>T	uc004flm.2	+	16	3013	c.2840C>T	c.(2839-2841)GCG>GTG	p.A947V		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	947	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					CGTGGCCCGGCGTCCGGGGGC	0.662													T	153694759	C	T	153694759	3	4	283	1	0	0	0	0	1	0	0	0	12121	768	27	1	2898	1	PLXNA3	23	153694759	Missense_Mutation	SNP	C	TCGA-HU-A4H8-01A-11D-A25D-08	974864	153694759	1575801	1436	146718											
PEX10	5192	broad.mit.edu	37	chr1	2338237	2338237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaccgtacagctgcagcCccatggacagcaccaggtgc	11	14	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:2338237C>T	uc001ajh.2	-	4	767	c.698G>A	c.(697-699)GGG>GAG	p.G233E	PEX10_uc001ajg.2_Missense_Mutation_p.G253E	NM_002617	NP_002608	O60683	PEX10_HUMAN	peroxisome biogenesis factor 10 isoform 2	233					protein import into peroxisome matrix|protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CAGCTGCAGCCCCATGGACAG	0.677													T	2338237	C	T	2338237	3	4	284	1	0	0	0	0	1	0	0	0	11736	623	22	4	294	4	PEX10	1	2338237	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		2338237	246912384	1	146719											
SPEN	23013	broad.mit.edu	37	chr1	16260458	16260458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacatgaggccccgcccccgCcagttgactctaaaaagcct	8	16	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:16260458C>A	uc001axk.1	+	11	7927	c.7723C>A	c.(7723-7725)CCA>ACA	p.P2575T	SPEN_uc010obp.1_Missense_Mutation_p.P2534T	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2575	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		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)		CCCGCCCCCGCCAGTTGACTC	0.527													A	16260458	C	A	16260458	3	1	284	1	0	0	0	0	1	0	0	0	15037	739	26	5	7765	5	SPEN	1	16260458	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	13922221	16260458	232990163	2	146720											
NUDC	10726	broad.mit.edu	37	chr1	27272100	27272100	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actcgcagcatggtggaaaaGatgatgtatgaccagcgaca	12	8	0	3	rs1048905		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:27272100G>A	uc001bng.1	+	8	983	c.867G>A	c.(865-867)AAG>AAA	p.K289K	NUDC_uc001bnh.1_Silent_p.K346K|NUDC_uc009vsq.1_Silent_p.K263K	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	nuclear distribution gene C homolog	289					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			ovary(1)	1				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)		TGGTGGAAAAGATGATGTATG	0.527													A	27272100	G	A	27272100	2	1	284	1	0	0	0	0	0	0	0	1	10721	933	33	4		4	NUDC	1	27272100	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	11011642	27272100	221978521	3	146721											
GPR3	2827	broad.mit.edu	37	chr1	27720842	27720842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggaactgcctggatggCctgaccacatgtggcgtggt	15	11	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:27720842C>T	uc001bod.2	+	2	635	c.540C>T	c.(538-540)GGC>GGT	p.G180G		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	180	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GCCTGGATGGCCTGACCACAT	0.572													T	27720842	C	T	27720842	2	4	284	1	0	0	0	0	0	0	0	1	6686	726	26	2		2	GPR3	1	27720842	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	448742	27720842	221529779	4	146722											
ZNF684	127396	broad.mit.edu	37	chr1	41013022	41013022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaagaagtcccatctcCtcagacatcagataactcat	4	13	6	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:41013022C>T	uc001cft.1	+	5	1278	c.1027C>T	c.(1027-1029)CTC>TTC	p.L343F		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	343	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)			GTCCCATCTCCTCAGACATCA	0.398													T	41013022	C	T	41013022	3	4	284	1	0	0	0	0	1	0	0	0	18088	681	24	4	1041	4	ZNF684	1	41013022	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	13292180	41013022	208237599	5	146723											
SYDE2	84144	broad.mit.edu	37	chr1	85648868	85648868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagtactatttgtagcaGccaggatcccagaaccttaa	7	10	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:85648868G>A	uc009wcm.2	-	3	1506	c.1457C>T	c.(1456-1458)GCT>GTT	p.A486V	SYDE2_uc001dku.3_Missense_Mutation_p.A486V	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	486					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTTGTAGCAGCCAGGATCCC	0.323													A	85648868	G	A	85648868	3	1	284	1	0	0	0	0	1	0	0	0	15433	971	34	2	2147	2	SYDE2	1	85648868	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	44635846	85648868	163601753	6	146724											
KIAA1324	57535	broad.mit.edu	37	chr1	109734025	109734025	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcagacacagagaataaaGaggtggccagaatcacattt	11	7	1	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:109734025G>T	uc001dwq.2	+	13	1613	c.1477G>T	c.(1477-1479)GAG>TAG	p.E493*	KIAA1324_uc009wex.1_Nonsense_Mutation_p.E443*|KIAA1324_uc009wey.2_Nonsense_Mutation_p.E406*|KIAA1324_uc010ovg.1_Nonsense_Mutation_p.E391*|KIAA1324_uc001dwr.2_Nonsense_Mutation_p.E143*	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	493	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		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)		AGAGAATAAAGAGGTGGCCAG	0.488													T	109734025	G	T	109734025	4	4	284	1	0	0	0	0	0	1	0	0	8223	943	33	5	1523	5	KIAA1324	1	109734025	Nonsense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	24085157	109734025	139516596	7	146725											
SF3B4	10262	broad.mit.edu	37	chr1	149898433	149898433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggcgctcacccttggagtCcttcttgaaggcataagata	10	10	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:149898433C>T	uc001etj.1	-	3	592	c.541G>A	c.(541-543)GAC>AAC	p.D181N	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.D181N|SF3B4_uc009wll.1_Missense_Mutation_p.D181N	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	181						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|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)			CCCTTGGAGTCCTTCTTGAAG	0.522													T	149898433	C	T	149898433	3	4	284	1	0	0	0	0	1	0	0	0	14153	855	30	4	749	4	SF3B4	1	149898433	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	40164408	149898433	99352188	8	146726											
FLG	2312	broad.mit.edu	37	chr1	152281867	152281867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgtccagaactatctaccGattgctcatagtgggatccc	9	11	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:152281867G>A	uc001ezu.1	-	3	5531	c.5495C>T	c.(5494-5496)TCG>TTG	p.S1832L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1832	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTATCTACCGATTGCTCATA	0.577									Ichthyosis				A	152281867	G	A	152281867	3	1	284	1	0	0	0	0	1	0	0	0	5922	1059	37	1	6694	1	FLG	1	152281867	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	2383434	152281867	96968754	9	146727											
HMCN1	83872	broad.mit.edu	37	chr1	186043953	186043953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctcaaatatcagacacCggacgatatacttgtgtagc	10	9	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:186043953C>T	uc001grq.1	+	53	8449	c.8220C>T	c.(8218-8220)ACC>ACT	p.T2740T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2740	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TATCAGACACCGGACGATATA	0.348													T	186043953	C	T	186043953	2	4	284	1	0	0	0	0	0	0	0	1	7220	639	23	1		1	HMCN1	1	186043953	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	33762086	186043953	63206668	10	146728											
HMCN1	83872	broad.mit.edu	37	chr1	186099668	186099668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaggtgattatcctTctaactggattgaaccactt	6	9	3	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:186099668T>G	uc001grq.1	+	85	13298	c.13069T>G	c.(13069-13071)TCT>GCT	p.S4357A	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4357	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGATTATCCTTCTAACTGGAT	0.418													G	186099668	T	G	186099668	3	3	284	1	0	0	0	0	1	0	0	0	7220	1783	62	5	13407	5	HMCN1	1	186099668	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	55715	186099668	63150953	11	146729											
C4BPA	722	broad.mit.edu	37	chr1	207287578	207287578	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcagatcccattcaactcaGacgcttacctgtaattctga	6	12	4	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:207287578G>T	uc001hfo.2	+	3	470	c.276G>T	c.(274-276)CAG>CAT	p.Q92H		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	92	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						ATTCAACTCAGACGCTTACCT	0.423													T	207287578	G	T	207287578	3	4	284	1	0	0	0	0	1	0	0	0	2249	933	33	5	282	5	C4BPA	1	207287578	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	21187910	207287578	41963043	12	146730											
USH2A	7399	broad.mit.edu	37	chr1	216270471	216270471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcccttcttcaactgaagtGcaaaatactcttcctgattg	6	11	3	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:216270471G>T	uc001hku.1	-	22	5099	c.4712C>A	c.(4711-4713)GCA>GAA	p.A1571E		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1571	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACTGAAGTGCAAAATACTC	0.323										HNSCC(13;0.011)			T	216270471	G	T	216270471	3	4	284	1	0	0	0	0	1	0	0	0	17033	1319	46	5	11100	5	USH2A	1	216270471	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	8982893	216270471	32980150	13	146731											
H3F3A	3020	broad.mit.edu	37	chr1	226253371	226253371	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaggcctggtactgtggCgctccgtgaaattagacgtt	12	8	0	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr1:226253371C>A	uc001hpw.2	+	3	258	c.143C>A	c.(142-144)GCG>GAG	p.A48E	H3F3A_uc010pvl.1_Missense_Mutation_p.A48E	NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	48					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding				0	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GGTACTGTGGCGCTCCGTGAA	0.403													A	226253371	C	A	226253371	3	1	284	1	0	0	0	0	1	0	0	0	6933	768	27	5	149	5	H3F3A	1	226253371	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	9982900	226253371	22997250	14	146732											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698511	17698511	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacagtcccagttttgagatTtttccagcctggtaagtacg	9	9	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:17698511T>A	uc002rcl.1	-	1	1196	c.1172A>T	c.(1171-1173)AAA>ATA	p.K391I	RAD51AP2_uc010exn.1_Missense_Mutation_p.K382I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	391										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTTTGAGATTTTTCCAGCCT	0.333													A	17698511	T	A	17698511	3	1	284	1	0	0	0	0	1	0	0	0	12987	1841	64	5	2319	5	RAD51AP2	2	17698511	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08		17698511	225500862	15	146733											
VSNL1	7447	broad.mit.edu	37	chr2	17830854	17830854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgacctggatggtgatGgcaagatcacccgagtggag	15	7	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:17830854G>A	uc002rcm.2	+	3	724	c.340G>A	c.(340-342)GGC>AGC	p.G114S		NM_003385	NP_003376	P62760	VISL1_HUMAN	visinin-like 1	114	EF-hand 3.|2 (Potential).						calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGATGGTGATGGCAAGATCAC	0.587													A	17830854	G	A	17830854	3	1	284	1	0	0	0	0	1	0	0	0	17224	1348	47	4	346	4	VSNL1	2	17830854	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	132343	17830854	225368519	16	146734											
WDR35	57539	broad.mit.edu	37	chr2	20178532	20178532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccactgaaccaactatcAcagccccatcttcatataca	2	16	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:20178532A>G	uc002rdi.2	-	5	524	c.416T>C	c.(415-417)GTG>GCG	p.V139A	WDR35_uc002rdj.2_Missense_Mutation_p.V139A|WDR35_uc010ext.2_RNA	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	139	WD 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAACTATCACAGCCCCATC	0.378													G	20178532	A	G	20178532	3	3	284	1	0	0	0	0	1	0	0	0	17286	159	6	3	3225	3	WDR35	2	20178532	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	2347678	20178532	223020841	17	146735			1	65		3	3	100	A		2.003759e-07
WDR35	57539	broad.mit.edu	37	chr2	20178576	20178576	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatcttctgtccgtcagcAttccagctcatactgcgaac	7	14	4	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:20178576A>G	uc002rdi.2	-	5	480	c.372T>C	c.(370-372)AAT>AAC	p.N124N	WDR35_uc002rdj.2_Silent_p.N124N|WDR35_uc010ext.2_RNA	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	124	WD 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCGTCAGCATTCCAGCTCA	0.368													G	20178576	A	G	20178576	2	3	284	1	0	0	0	0	0	0	0	1	17286	214	8	3		3	WDR35	2	20178576	Silent	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	44	20178576	223020797	18	146736			1	65		3	3	100	A		2.003759e-07
WDR35	57539	broad.mit.edu	37	chr2	20178631	20178631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgttgatcatctcctcaAtccaagagcctgttttcaca	6	11	4	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:20178631A>G	uc002rdi.2	-	5	425	c.317T>C	c.(316-318)ATT>ACT	p.I106T	WDR35_uc002rdj.2_Missense_Mutation_p.I106T|WDR35_uc010ext.2_RNA	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	106	WD 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTCCTCAATCCAAGAGCC	0.358													G	20178631	A	G	20178631	3	3	284	1	0	0	0	0	1	0	0	0	17286	101	4	3	3324	3	WDR35	2	20178631	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	55	20178631	223020742	19	146737			1	65		3	3	100	A		2.003759e-07
PUS10	150962	broad.mit.edu	37	chr2	61238963	61238963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctgaagatacatcttggAcaagtaccagtattgagcaa	8	7	2	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:61238963A>G	uc010fci.2	-	2	123	c.63T>C	c.(61-63)TGT>TGC	p.C21C	PUS10_uc002sao.2_Silent_p.C21C|PUS10_uc010ypk.1_5'UTR|PUS10_uc002sap.1_RNA|PUS10_uc002saq.1_RNA	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	21					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TACATCTTGGACAAGTACCAG	0.318													G	61238963	A	G	61238963	2	3	284	1	0	0	0	0	0	0	0	1	12831	273	10	3		3	PUS10	2	61238963	Silent	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	41060332	61238963	181960410	20	146738											
PPP3R1	5534	broad.mit.edu	37	chr2	68415709	68415709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tattactcgctgtactaaagGattctgttgtaactcaggca	8	8	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:68415709G>T	uc002sei.1	-	3	549	c.157C>A	c.(157-159)CCT>ACT	p.P53T		NM_000945	NP_000936	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B,	53	EF-hand 2.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding				0					Pimecrolimus(DB00337)	TGTACTAAAGGATTCTGTTGT	0.348													T	68415709	G	T	68415709	3	4	284	1	0	0	0	0	1	0	0	0	12400	1174	41	5	371	5	PPP3R1	2	68415709	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	7176746	68415709	174783664	21	146739											
SNRNP27	11017	broad.mit.edu	37	chr2	70122244	70122244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaacgtaggcgttcccggtCcacatcccgggagagagaac	13	12	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:70122244C>T	uc002sfw.2	+	2	80	c.53C>T	c.(52-54)TCC>TTC	p.S18F	SNRNP27_uc002sfv.2_RNA|SNRNP27_uc002sfx.2_Missense_Mutation_p.S18F	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa	18	Arg-rich.				mRNA processing|RNA splicing	nucleus	nucleic acid binding				0						CGTTCCCGGTCCACATCCCGG	0.547													T	70122244	C	T	70122244	3	4	284	1	0	0	0	0	1	0	0	0	14854	855	30	4	59	4	SNRNP27	2	70122244	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	1706535	70122244	173077129	22	146740											
AFF3	3899	broad.mit.edu	37	chr2	100217914	100217915	+	Frame_Shift_Ins	INS	-	-	G													acctcggggctggagaagtgINSggggggcttgctgccctcac							TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:100217913_100217914T>TG	uc002taf.3	-	12	1573_1574	c.1429_1430A>CA	c.(1429-1431)cacfs	p.H477fs	AFF3_uc002tag.3_Frame_Shift_Ins_p.H452fs|AFF3_uc010fiq.1_Frame_Shift_Ins_p.H452fs|AFF3_uc010yvr.1_Frame_Shift_Ins_p.H605fs|AFF3_uc002tah.1_Frame_Shift_Ins_p.H477fs	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	452					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						GCTGGAGAAGTGGGGGGGCTTG	0.629													G	100217915	-	G	100217914	7	5	284	1	0	1	1	0	0	0	0	0	358	1348	47	0	2374	0	AFF3	2	100217914	Frame_Shift_Ins	INS	-	TCGA-HU-A4HD-01A-11D-A25D-08	30095670	100217914	142981459	23	146741											
KYNU	8942	broad.mit.edu	37	chr2	143798211	143798212	+	Frame_Shift_Ins	INS	-	-	A													gatgttttccaagaactagaINSaaaaagaggagtggttgtaa							TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:143798210_143798211G>GA	uc010fnm.3	+	13	1471_1472	c.1255_1256G>GA	c.(1255-1257)gaafs	p.E419fs	KYNU_uc002tvl.3_Frame_Shift_Ins_p.E419fs	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	419					NAD biosynthetic process|anthranilate metabolic 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)	CCAAGAACTAGAAAAAAGAGGA	0.396													A	143798212	-	A	143798211	7	5	284	1	0	1	1	0	0	0	0	0	8587	246	9	0	1328	0	KYNU	2	143798211	Frame_Shift_Ins	INS	-	TCGA-HU-A4HD-01A-11D-A25D-08	43580297	143798211	99401162	24	146742											
LRP2	4036	broad.mit.edu	37	chr2	170042037	170042037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacccagtctacagccagaCtttctgcagctggtagtctg	9	12	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:170042037C>T	uc002ues.2	-	50	10034	c.9821G>A	c.(9820-9822)AGT>AAT	p.S3274N		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3274	LDL-receptor class B 30.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	TACAGCCAGACTTTCTGCAGC	0.348													T	170042037	C	T	170042037	3	4	284	1	0	0	0	0	1	0	0	0	8956	565	20	4	4266	4	LRP2	2	170042037	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	26243826	170042037	73157336	25	146743											
TTN	7273	broad.mit.edu	37	chr2	179455023	179455023	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgacaagtaacatcaagttCtacttctggaggatgaagga	10	7	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:179455023C>G	uc010zfg.1	-	253	53949	c.53725G>C	c.(53725-53727)GAA>CAA	p.E17909Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E11604Q|TTN_uc010zfi.1_Missense_Mutation_p.E11537Q|TTN_uc010zfj.1_Missense_Mutation_p.E11412Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCAAGTTCTACTTCTGGA	0.433													G	179455023	C	G	179455023	3	3	284	1	0	0	0	0	1	0	0	0	16732	922	32	5	46786	5	TTN	2	179455023	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	9412986	179455023	63744350	26	146744											
TTN	7273	broad.mit.edu	37	chr2	179614932	179614932	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggatgggcgccttttgcTtggtcaaacaccaatgctaa	11	9	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:179614932T>G	uc002unb.2	-	46	12419	c.12195A>C	c.(12193-12195)CAA>CAC	p.Q4065H	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCCTTTTGCTTGGTCAAACA	0.423													G	179614932	T	G	179614932	3	3	284	1	0	0	0	0	1	0	0	0	16732	1606	56	5	98102	5	TTN	2	179614932	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	159909	179614932	63584441	27	146745											
SESTD1	91404	broad.mit.edu	37	chr2	180047901	180047901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaatgaggccactccGtctgtcttttcctcctatta	6	12	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:180047901G>A	uc002uni.3	-	3	220	c.70C>T	c.(70-72)CGG>TGG	p.R24W		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	24	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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGCCACTCCGTCTGTCTTTT	0.343													A	180047901	G	A	180047901	3	1	284	1	0	0	0	0	1	0	0	0	14127	1144	40	1	2084	1	SESTD1	2	180047901	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	432969	180047901	63151472	28	146746											
ZC3H15	55854	broad.mit.edu	37	chr2	187359984	187359984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactttcggtttgaagaatAagaaaggagcaaagcaacag	10	5	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:187359984A>C	uc002upo.2	+	2	325	c.100A>C	c.(100-102)AAG>CAG	p.K34Q		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	erythropoietin 4 immediate early response	34						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TTTGAAGAATAAGAAAGGAGC	0.323													C	187359984	A	C	187359984	3	2	284	1	0	0	0	0	1	0	0	0	17564	363	13	5	106	5	ZC3H15	2	187359984	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	7312083	187359984	55839389	29	146747											
AOX1	316	broad.mit.edu	37	chr2	201501705	201501705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggcgtgttggtggagcGtttggagggaaggtgttaaa	19	2	0	0	rs148411225	byFrequency	TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:201501705G>A	uc002uvx.2	+	22	2519	c.2418G>A	c.(2416-2418)GCG>GCA	p.A806A	AOX1_uc010zhf.1_Silent_p.A362A|AOX1_uc010fsu.2_Silent_p.A172A	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	806					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			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGTGGAGCGTTTGGAGGGA	0.433													A	201501705	G	A	201501705	2	1	284	1	0	0	0	0	0	0	0	1	729	1132	40	1		1	AOX1	2	201501705	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	14141721	201501705	41697668	30	146748											
MAP2	4133	broad.mit.edu	37	chr2	210557575	210557575	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacccctagctttgtttggGcacactcttgttgccagcct	9	14	1	0	rs139978953	byFrequency	TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:210557575G>C	uc002vde.1	+	7	929	c.681G>C	c.(679-681)GGG>GGC	p.G227G	MAP2_uc002vdc.1_Silent_p.G227G|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.G223G	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	227					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			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		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)	CTTTGTTTGGGCACACTCTTG	0.468													C	210557575	G	C	210557575	2	2	284	1	0	0	0	0	0	0	0	1	9235	1190	42	5		5	MAP2	2	210557575	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	9055870	210557575	32641798	31	146749											
BARD1	580	broad.mit.edu	37	chr2	215593615	215593615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcactgtctggcttggGctttctactgaggatctggc	12	11	4	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:215593615G>A	uc002veu.2	-	11	2254	c.2119C>T	c.(2119-2121)CCC>TCC	p.P707S	BARD1_uc010zjm.1_Silent_p.S561S	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	707	BRCT 2.				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			lung(2)	2		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)		TCTGGCTTGGGCTTTCTACTG	0.488									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				A	215593615	G	A	215593615	3	1	284	1	0	0	0	0	1	0	0	0	1312	1203	42	2	218	2	BARD1	2	215593615	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	5036040	215593615	27605758	32	146750											
FN1	2335	broad.mit.edu	37	chr2	216259415	216259415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggccgtttgtagggGttgtggtaattctataacca	12	8	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:216259415G>T	uc002vfa.2	-	24	3898	c.3632C>A	c.(3631-3633)ACC>AAC	p.T1211N	FN1_uc002vfb.2_Missense_Mutation_p.T1211N|FN1_uc002vfc.2_Missense_Mutation_p.T1211N|FN1_uc002vfd.2_Missense_Mutation_p.T1211N|FN1_uc002vfe.2_Missense_Mutation_p.T1211N|FN1_uc002vff.2_Missense_Mutation_p.T1211N|FN1_uc002vfg.2_Missense_Mutation_p.T1211N|FN1_uc002vfh.2_Missense_Mutation_p.T1211N|FN1_uc002vfi.2_Missense_Mutation_p.T1211N|FN1_uc002vfj.2_Missense_Mutation_p.T1211N|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1211	Fibronectin type-III 7.				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			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		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)	GTTTGTAGGGGTTGTGGTAAT	0.443													T	216259415	G	T	216259415	3	4	284	1	0	0	0	0	1	0	0	0	5962	1261	44	5	3893	5	FN1	2	216259415	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	665800	216259415	26939958	33	146751											
MARCH4	57574	broad.mit.edu	37	chr2	217142568	217142568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaccttctcaatgaccGtcagagagatggcctgccac	9	14	2	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:217142568G>A	uc002vgb.2	-	3	2459	c.692C>T	c.(691-693)ACG>ATG	p.T231M		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	231						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CTCAATGACCGTCAGAGAGAT	0.567													A	217142568	G	A	217142568	3	1	284	1	0	0	0	0	1	0	0	0	9303	1145	40	1	548	1	MARCH4	2	217142568	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	883153	217142568	26056805	34	146752											
ATG9A	79065	broad.mit.edu	37	chr2	220086872	220086872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acacgctgctcccggagctgGctgtcctggcatccaccctg	11	17	0	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:220086872G>C	uc002vke.1	-	13	2231	c.2045C>G	c.(2044-2046)GCC>GGC	p.A682G	ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A682G	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	682	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGGAGCTGGCTGTCCTGGC	0.592													C	220086872	G	C	220086872	3	2	284	1	0	0	0	0	1	0	0	0	1102	1203	42	5	490	5	ATG9A	2	220086872	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	2944304	220086872	23112501	35	146753											
SCG2	7857	broad.mit.edu	37	chr2	224462279	224462279	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggggtatcatcattcttCgggggccccacagggaacct	12	11	3	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:224462279C>T	uc002vnm.2	-	2	1855	c.1722G>A	c.(1720-1722)CCG>CCA	p.P574P		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	574					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			ovary(1)	1		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)		CATCATTCTTCGGGGGCCCCA	0.493													T	224462279	C	T	224462279	2	4	284	1	0	0	0	0	0	0	0	1	13891	871	31	1		1	SCG2	2	224462279	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	4375407	224462279	18737094	36	146754											
INPP5D	3635	broad.mit.edu	37	chr2	234112803	234112803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggaagaacgcaggggacAcgctgcctcaggaggacctg	17	10	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr2:234112803A>G	uc010zmo.1	+	25	3160	c.3007A>G	c.(3007-3009)ACG>GCG	p.T1003A	INPP5D_uc010zmp.1_Missense_Mutation_p.T1002A	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	1003	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			ovary(1)|central_nervous_system(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)		CGCAGGGGACACGCTGCCTCA	0.512													G	234112803	A	G	234112803	3	3	284	1	0	0	0	0	1	0	0	0	7756	159	6	3	2617	3	INPP5D	2	234112803	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	9650524	234112803	9086570	37	146755											
FBLN2	2199	broad.mit.edu	37	chr3	13672213	13672213	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcagacgtgaatgagtgtGaggcccagcgctgcagccag	15	11	0	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:13672213G>A	uc011avb.1	+	14	2967	c.2842G>A	c.(2842-2844)GAG>AAG	p.E948K	FBLN2_uc011auz.1_Missense_Mutation_p.E974K|FBLN2_uc011ava.1_Missense_Mutation_p.E995K|FBLN2_uc011avc.1_Missense_Mutation_p.E995K	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	948	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAATGAGTGTGAGGCCCAGCG	0.622													A	13672213	G	A	13672213	3	1	284	1	0	0	0	0	1	0	0	0	5699	1291	45	4	1727	4	FBLN2	3	13672213	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		13672213	184350217	38	146756											
TGFBR2	7048	broad.mit.edu	37	chr3	30713756	30713756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccgggggattgctcacCtccacagtgatcacactcca	9	16	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:30713756C>T	uc003ceo.2	+	4	1463	c.1081C>T	c.(1081-1083)CTC>TTC	p.L361F	TGFBR2_uc003cen.2_Missense_Mutation_p.L386F	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	361	Protein kinase.|Cytoplasmic (Potential).				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|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 I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GATTGCTCACCTCCACAGTGA	0.607													T	30713756	C	T	30713756	3	4	284	1	0	0	0	0	1	0	0	0	15819	681	24	4	1174	4	TGFBR2	3	30713756	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	17041543	30713756	167308674	39	146757											
C3orf14	57415	broad.mit.edu	37	chr3	62317026	62317026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcagaaaagtcactAcagaccaggattcacccact	8	12	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:62317026A>G	uc003dlf.2	+	5	348	c.204A>G	c.(202-204)CTA>CTG	p.L68L	C3orf14_uc010hnq.2_Silent_p.L68L|C3orf14_uc003dlg.2_Silent_p.L68L	NM_020685	NP_065736	Q9HBI5	CC014_HUMAN	hypothetical protein LOC57415	68										central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		AAAAGTCACTACAGACCAGGA	0.398													G	62317026	A	G	62317026	2	3	284	1	0	0	0	0	0	0	0	1	2208	378	14	3		3	C3orf14	3	62317026	Silent	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	31603270	62317026	135705404	40	146758											
CADPS	8618	broad.mit.edu	37	chr3	62459960	62459960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatctgttgatcgactgGttttttgcagcttaacttca	8	7	2	1	rs151301388		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:62459960G>T	uc003dll.2	-	24	3725	c.3365C>A	c.(3364-3366)ACC>AAC	p.T1122N	CADPS_uc003dlj.1_Missense_Mutation_p.T72N|CADPS_uc003dlk.1_Missense_Mutation_p.T570N|CADPS_uc003dlm.2_Missense_Mutation_p.T1083N|CADPS_uc003dln.2_Missense_Mutation_p.T1043N	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1122	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		TGATCGACTGGTTTTTTGCAG	0.393													T	62459960	G	T	62459960	3	4	284	1	0	0	0	0	1	0	0	0	2570	1261	44	5	724	5	CADPS	3	62459960	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	142934	62459960	135562470	41	146759											
ROBO2	6092	broad.mit.edu	37	chr3	77623795	77623795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcaacctgaaaaagggggTgacttatgaaattaaagtac	10	5	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:77623795T>G	uc003dpy.3	+	14	2760	c.2117T>G	c.(2116-2118)GTG>GGG	p.V706G	ROBO2_uc003dpz.2_Missense_Mutation_p.V710G|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V710G	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	706	Fibronectin type-III 2.|Extracellular (Potential).				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			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				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)		AAAAAGGGGGTGACTTATGAA	0.428													G	77623795	T	G	77623795	3	3	284	1	0	0	0	0	1	0	0	0	13514	1696	59	5	2173	5	ROBO2	3	77623795	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	15163835	77623795	120398635	42	146760											
OR5K1	26339	broad.mit.edu	37	chr3	98188869	98188869	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccacaggggccttcaTagctggaaacctgcattcca	10	12	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:98188869T>A	uc003dsm.2	+	1	449	c.449T>A	c.(448-450)ATA>AAA	p.I150K		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						GGGGCCTTCATAGCTGGAAAC	0.453													A	98188869	T	A	98188869	3	1	284	1	0	0	0	0	1	0	0	0	11166	1406	49	5	451	5	OR5K1	3	98188869	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	20565074	98188869	99833561	43	146761											
OR5K2	402135	broad.mit.edu	37	chr3	98217288	98217288	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcattattctatggatctaTttttttcctatacattagac	3	7	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:98217288T>A	uc011bgx.1	+	1	764	c.764T>A	c.(763-765)ATT>AAT	p.I255N		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TATGGATCTATTTTTTTCCTA	0.343													A	98217288	T	A	98217288	3	1	284	1	0	0	0	0	1	0	0	0	11167	1493	52	5	766	5	OR5K2	3	98217288	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	28419	98217288	99805142	44	146762											
FAM55C	91775	broad.mit.edu	37	chr3	101520287	101520287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcccctttgtgaagagcaCtgacccttcttccagctact	7	14	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:101520287C>T	uc003dvn.2	+	5	939	c.302C>T	c.(301-303)ACT>ATT	p.T101I	FAM55C_uc010hpn.2_Missense_Mutation_p.T101I	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	101						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GTGAAGAGCACTGACCCTTCT	0.552													T	101520287	C	T	101520287	3	4	284	1	0	0	0	0	1	0	0	0	5586	565	20	4	308	4	FAM55C	3	101520287	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	3302999	101520287	96502143	45	146763											
PDIA5	10954	broad.mit.edu	37	chr3	122808024	122808024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatccccaggtggtcctgCcatcatggctgtcctctgca	10	14	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:122808024C>T	uc003egc.1	+	2	108	c.52C>T	c.(52-54)CCA>TCA	p.P18S	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	18					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			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		GGTGGTCCTGCCATCATGGCT	0.542													T	122808024	C	T	122808024	3	4	284	1	0	0	0	0	1	0	0	0	11671	739	26	2	58	2	PDIA5	3	122808024	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	21287737	122808024	75214406	46	146764											
ROPN1	54763	broad.mit.edu	37	chr3	123695732	123695732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaatgcaggatctttaaCagctcaggtgttagctctgc	11	8	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:123695732C>T	uc003eha.2	-	4	554	c.213G>A	c.(211-213)CTG>CTA	p.L71L		NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	ropporin	71					signal transduction		cAMP-dependent protein kinase regulator activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.148)		GGATCTTTAACAGCTCAGGTG	0.547													T	123695732	C	T	123695732	2	4	284	1	0	0	0	0	0	0	0	1	13523	465	17	4		4	ROPN1	3	123695732	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	887708	123695732	74326698	47	146765											
EIF2A	83939	broad.mit.edu	37	chr3	150290091	150290091	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttacgggttaataatggAtacaaaatttggcattatac	9	4	0	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:150290091A>C	uc003eya.2	+	10	1174	c.1158A>C	c.(1156-1158)GGA>GGC	p.G386G	SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Silent_p.G259G|EIF2A_uc003eyc.2_Silent_p.G259G|EIF2A_uc011bnv.1_Silent_p.G361G|EIF2A_uc011bnw.1_Silent_p.G325G|EIF2A_uc003eyd.2_Silent_p.G161G|uc003eye.1_Intron	NM_032025	NP_114414	Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A	386	WD 3.				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding				0		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTAATAATGGATACAAAATTT	0.418													C	150290091	A	C	150290091	2	2	284	1	0	0	0	0	0	0	0	1	4995	320	12	5		5	EIF2A	3	150290091	Silent	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	26594359	150290091	47732339	48	146766											
MME	4311	broad.mit.edu	37	chr3	154866382	154866382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagaacataattcaaaAtttgaaattcagccaaagta	5	7	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:154866382A>C	uc010hvr.1	+	16	1752	c.1541A>C	c.(1540-1542)AAT>ACT	p.N514T	MME_uc003fab.1_Missense_Mutation_p.N514T|MME_uc003fac.1_Missense_Mutation_p.N514T|MME_uc003fad.1_Missense_Mutation_p.N514T|MME_uc003fae.1_Missense_Mutation_p.N514T	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	514	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATAATTCAAAATTTGAAATTC	0.313													C	154866382	A	C	154866382	3	2	284	1	0	0	0	0	1	0	0	0	9645	101	4	5	1599	5	MME	3	154866382	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	4576291	154866382	43156048	49	146767											
SMC4	10051	broad.mit.edu	37	chr3	160151539	160151539	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaatttacaagacatacaAcataacaaaaagtgttgctg	7	6	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr3:160151539A>C	uc003fdh.2	+	24	3922	c.3809A>C	c.(3808-3810)AAC>ACC	p.N1270T	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.N1245T|SMC4_uc003fdj.2_Missense_Mutation_p.N1270T|SMC4_uc010hwd.2_Missense_Mutation_p.N1212T|SMC4_uc003fdl.2_Missense_Mutation_p.N973T	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	1270					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGACATACAACATAACAAAA	0.299													C	160151539	A	C	160151539	3	2	284	1	0	0	0	0	1	0	0	0	14785	43	2	5	3899	5	SMC4	3	160151539	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	5285157	160151539	37870891	50	146768											
IL8	3576	broad.mit.edu	37	chr4	74606394	74606394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatgacttccaagctggccGtggctctcttggcagccttc	10	14	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr4:74606394G>T	uc003hhe.2	+	1	120	c.19G>T	c.(19-21)GTG>TTG	p.V7L	IL8_uc011cbh.1_Missense_Mutation_p.V7L	NM_000584	NP_000575	P10145	IL8_HUMAN	interleukin 8 precursor	7					angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding			ovary(2)	2	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)	CAAGCTGGCCGTGGCTCTCTT	0.488													T	74606394	G	T	74606394	3	4	284	1	0	0	0	0	1	0	0	0	7706	1145	40	5	21	5	IL8	4	74606394	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		74606394	116547882	51	146769											
ADH5	128	broad.mit.edu	37	chr4	99997596	99997596	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgcaaatttatctttattGatgtccacaccaatgatccg	5	10	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr4:99997596G>A	uc003hui.2	-	6	752	c.672C>T	c.(670-672)ATC>ATT	p.I224I	ADH5_uc003huk.1_Silent_p.I224I|ADH5_uc003huj.2_Silent_p.I102I	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	224					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			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TATCTTTATTGATGTCCACAC	0.468													A	99997596	G	A	99997596	2	1	284	1	0	0	0	0	0	0	0	1	311	1280	45	4		4	ADH5	4	99997596	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	25391202	99997596	91156680	52	146770											
NDST3	9348	broad.mit.edu	37	chr4	119154234	119154234	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaactcccccagcccaaaAacctttgaggaggtacagtt	8	12	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr4:119154234A>C	uc003ibx.2	+	9	2290	c.1887A>C	c.(1885-1887)AAA>AAC	p.K629N	NDST3_uc011cgf.1_Missense_Mutation_p.K548N	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	629	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CCAGCCCAAAAACCTTTGAGG	0.368													C	119154234	A	C	119154234	3	2	284	1	0	0	0	0	1	0	0	0	10257	11	1	5	1917	5	NDST3	4	119154234	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	19156638	119154234	72000042	53	146771											
ODZ3	55714	broad.mit.edu	37	chr4	183609479	183609479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtgaatgcagccagggCtggaatggagagcactgcac	15	8	0	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr4:183609479C>T	uc003ivd.1	+	11	2233	c.2196C>T	c.(2194-2196)GGC>GGT	p.G732G	ODZ3_uc003ive.1_Silent_p.G138G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	732	Extracellular (Potential).|EGF-like 7.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCAGCCAGGGCTGGAATGGAG	0.587													T	183609479	C	T	183609479	2	4	284	1	0	0	0	0	0	0	0	1	10836	784	28	2		2	ODZ3	4	183609479	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	64455245	183609479	7544797	54	146772											
SLC6A19	340024	broad.mit.edu	37	chr5	1212459	1212459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcccctgtggactacTtctggtaccgagagacgctc	12	13	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:1212459T>G	uc003jbw.3	+	4	579	c.523T>G	c.(523-525)TTC>GTC	p.F175V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	175	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	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)			TGTGGACTACTTCTGGTACCG	0.622													G	1212459	T	G	1212459	3	3	284	1	0	0	0	0	1	0	0	0	14682	1609	56	5	537	5	SLC6A19	5	1212459	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08		1212459	179702801	55	146773											
SEMA5A	9037	broad.mit.edu	37	chr5	9063138	9063138	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtcacggctgcactgtgaCcacgacgtccaggctgacca	11	15	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:9063138C>G	uc003jek.2	-	18	3091	c.2379G>C	c.(2377-2379)TGG>TGC	p.W793C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	793	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TGCACTGTGACCACGACGTCC	0.597													G	9063138	C	G	9063138	3	3	284	1	0	0	0	0	1	0	0	0	14037	508	18	5	869	5	SEMA5A	5	9063138	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	7850679	9063138	171852122	56	146774											
PDE8B	8622	broad.mit.edu	37	chr5	76704759	76704759	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcccaagaaaacagcccagtCacagtagcggaagccttgga	11	12	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:76704759C>A	uc003kfa.2	+	14	1452	c.1407C>A	c.(1405-1407)GTC>GTA	p.V469V	PDE8B_uc003kfb.2_Silent_p.V449V|PDE8B_uc003kfc.2_Intron|PDE8B_uc003kfd.2_Silent_p.V422V|PDE8B_uc003kfe.2_Silent_p.V372V	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	469					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		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)		ACAGCCCAGTCACAGTAGCGG	0.443													A	76704759	C	A	76704759	2	1	284	1	0	0	0	0	0	0	0	1	11654	813	29	5		5	PDE8B	5	76704759	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	67641621	76704759	104210501	57	146775											
GPR98	84059	broad.mit.edu	37	chr5	90281206	90281208	+	In_Frame_Del	DEL	GAG	GAG	-													tgatgaatgatgagcacacaGagaggcgatatctgctgttt							TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:90281206_90281208delGAG	uc003kju.2	+	85	18115_18117	c.18019_18021delGAG	c.(18019-18021)GAGdel	p.E6007del	GPR98_uc003kjt.2_In_Frame_Del_p.E3713del|GPR98_uc003kjw.2_In_Frame_Del_p.E1668del|GPR98_uc003kjx.2_In_Frame_Del_p.E35del	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	6007	Cytoplasmic (Potential).				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			ovary(11)|central_nervous_system(3)|pancreas(2)	16		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)		TGAGCACACAGAGAGGCGATATC	0.409													-	90281208	GAG	-	90281206	7	5	284	1	0	1	0	1	0	0	0	0	6721	943	33	0	18357	0	GPR98	5	90281206	In_Frame_Del	DEL	GAG	TCGA-HU-A4HD-01A-11D-A25D-08	13576447	90281206	90634054	58	146776											
IK	3550	broad.mit.edu	37	chr5	140033632	140033632	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttggattttgctctgcttCaaaaggtgagtcctggtggt	13	7	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:140033632C>T	uc003lgq.2	+	6	624	c.514C>T	c.(514-516)CAA>TAA	p.Q172*	IK_uc011czk.1_Nonsense_Mutation_p.Q172*	NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	172					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)			TGCTCTGCTTCAAAAGGTGAG	0.493													T	140033632	C	T	140033632	4	4	284	1	0	0	0	0	0	1	0	0	7608	827	29	4	536	4	IK	5	140033632	Nonsense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	49752426	140033632	40881628	59	146777											
PCDHB4	56131	broad.mit.edu	37	chr5	140501697	140501697	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtgttggaggaaacagaGagcggctcctttgtagccca	13	9	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:140501697G>A	uc003lip.1	+	1	117	c.117G>A	c.(115-117)GAG>GAA	p.E39E		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	39	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAAACAGAGAGCGGCTCCT	0.537													A	140501697	G	A	140501697	2	1	284	1	0	0	0	0	0	0	0	1	11544	933	33	4		4	PCDHB4	5	140501697	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	468065	140501697	40413563	60	146778											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856557	140856557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaaccgcgccggcgtgCggcaactattcgccttagac	11	16	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:140856557C>T	uc003lkv.1	+	1	989	c.874C>T	c.(874-876)CGG>TGG	p.R292W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R292W|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	292	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGGCGTGCGGCAACTATT	0.557													T	140856557	C	T	140856557	3	4	284	1	0	0	0	0	1	0	0	0	11569	759	27	1	876	1	PCDHGC3	5	140856557	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	354860	140856557	40058703	61	146779											
DOCK2	1794	broad.mit.edu	37	chr5	169101311	169101311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctaggccagcaaaaAggagcgttttctccaggtgc	11	11	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:169101311A>G	uc003maf.2	+	6	412	c.332A>G	c.(331-333)AAG>AGG	p.K111R	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	111					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			ovary(5)|pancreas(2)	7	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)			GCCAGCAAAAAGGAGCGTTTT	0.498													G	169101311	A	G	169101311	3	3	284	1	0	0	0	0	1	0	0	0	4687	72	3	3	354	3	DOCK2	5	169101311	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	28244754	169101311	11813949	62	146780											
MSX2	4488	broad.mit.edu	37	chr5	174156283	174156283	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttccgtcagaaacagtacctCtccattgcagagcgtgcaga	9	12	2	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr5:174156283C>T	uc003mcy.2	+	2	589	c.501C>T	c.(499-501)CTC>CTT	p.L167L		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	167	Homeobox.				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACAGTACCTCTCCATTGCAG	0.567													T	174156283	C	T	174156283	2	4	284	1	0	0	0	0	0	0	0	1	9896	900	32	4		4	MSX2	5	174156283	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	5054972	174156283	6758977	63	146781											
ABT1	29777	broad.mit.edu	37	chr6	26598840	26598840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgccaccctcagagagCatggagggaccttcccttgt	11	16	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:26598840C>T	uc003nii.2	+	3	817	c.786C>T	c.(784-786)AGC>AGT	p.S262S		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	262					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						CCTCAGAGAGCATGGAGGGAC	0.622													T	26598840	C	T	26598840	2	4	284	1	0	0	0	0	0	0	0	1	101	709	25	2		2	ABT1	6	26598840	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		26598840	144516227	64	146782											
CNPY3	10695	broad.mit.edu	37	chr6	42897330	42897330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggattcaatgcctgagcccGcgtcccgctgtcttctgctt	10	14	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:42897330G>A	uc003ota.3	+	1	471	c.22G>A	c.(22-24)GCG>ACG	p.A8T	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.A8T|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	8					innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|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)			GCCTGAGCCCGCGTCCCGCTG	0.627													A	42897330	G	A	42897330	3	1	284	1	0	0	0	0	1	0	0	0	3629	1087	38	1	24	1	CNPY3	6	42897330	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	16298490	42897330	128217737	65	146783											
CNR1	1268	broad.mit.edu	37	chr6	88854325	88854325	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgacaatcctcttataGgccaggggcctgtgaatgga	13	9	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:88854325G>T	uc011dzq.1	-	2	4232	c.669C>A	c.(667-669)GCC>GCA	p.A223A	CNR1_uc010kbz.2_Silent_p.A223A|CNR1_uc011dzr.1_Silent_p.A223A|CNR1_uc011dzs.1_Silent_p.A223A|CNR1_uc003pmq.3_Silent_p.A223A|CNR1_uc011dzt.1_Silent_p.A223A|CNR1_uc010kca.2_Silent_p.A190A	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	223	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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)	TCCTCTTATAGGCCAGGGGCC	0.587													T	88854325	G	T	88854325	2	4	284	1	0	0	0	0	0	0	0	1	3631	987	35	5		5	CNR1	6	88854325	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	45956995	88854325	82260742	66	146784											
BACH2	60468	broad.mit.edu	37	chr6	90660506	90660506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaccgaggtgctcactTggtcacaagcgctggaggag	14	10	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:90660506T>C	uc011eab.1	-	7	2128	c.1319A>G	c.(1318-1320)CAA>CGA	p.Q440R	BACH2_uc003pnw.2_Missense_Mutation_p.Q440R|BACH2_uc010kch.2_Missense_Mutation_p.Q440R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	440						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		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)		GGTGCTCACTTGGTCACAAGC	0.612													C	90660506	T	C	90660506	3	2	284	1	0	0	0	0	1	0	0	0	1284	1812	63	3	1218	3	BACH2	6	90660506	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	1806181	90660506	80454561	67	146785											
COQ3	51805	broad.mit.edu	37	chr6	99842017	99842017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccccagcactcttaaaaaCcaacccccggaggagcccag	9	17	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:99842017C>A	uc003ppk.2	-	1	66	c.39G>T	c.(37-39)TGG>TGT	p.W13C		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	13					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		CTCTTAAAAACCAACCCCCGG	0.562													A	99842017	C	A	99842017	3	1	284	1	0	0	0	0	1	0	0	0	3746	508	18	5	1098	5	COQ3	6	99842017	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	9181511	99842017	71273050	68	146786											
GRIK2	2898	broad.mit.edu	37	chr6	102483269	102483269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctttatgagtagcagaagGcagtcagtgctggtcaaaag	13	7	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:102483269G>T	uc003pqp.3	+	14	2388	c.2139G>T	c.(2137-2139)AGG>AGT	p.R713S	GRIK2_uc003pqo.3_Missense_Mutation_p.R713S|GRIK2_uc010kcw.2_Missense_Mutation_p.R713S	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	713	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	GTAGCAGAAGGCAGTCAGTGC	0.393													T	102483269	G	T	102483269	3	4	284	1	0	0	0	0	1	0	0	0	6774	1194	42	5	2193	5	GRIK2	6	102483269	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	2641252	102483269	68631798	69	146787											
KIAA1919	91749	broad.mit.edu	37	chr6	111587791	111587791	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatttccgagtggtgtttcTtggattgagcagtacacgac	11	8	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:111587791T>A	uc003puv.3	+	4	1448	c.1026T>A	c.(1024-1026)TCT>TCA	p.S342S		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	342	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTGGTGTTTCTTGGATTGAGC	0.438													A	111587791	T	A	111587791	2	1	284	1	0	0	0	0	0	0	0	1	8262	1596	56	5		5	KIAA1919	6	111587791	Silent	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	9104522	111587791	59527276	70	146788											
EYA4	2070	broad.mit.edu	37	chr6	133777756	133777756	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaccacagccacgactggaGatggagcgcttgacactttt	10	11	0	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:133777756G>A	uc003qec.3	+	6	798	c.340G>A	c.(340-342)GAT>AAT	p.D114N	EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.D114N|EYA4_uc003qee.3_Missense_Mutation_p.D91N|EYA4_uc011ecs.1_Missense_Mutation_p.D114N|uc003qef.1_RNA	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	114					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			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CACGACTGGAGATGGAGCGCT	0.473													A	133777756	G	A	133777756	3	1	284	1	0	0	0	0	1	0	0	0	5331	942	33	4	358	4	EYA4	6	133777756	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	22189965	133777756	37337311	71	146789											
AKAP12	9590	broad.mit.edu	37	chr6	151674697	151674697	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcctcaggaggcttaaCcaaagagtccccagatacaa	9	11	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr6:151674697C>G	uc011eep.1	+	4	5411	c.5171C>G	c.(5170-5172)ACC>AGC	p.T1724S	AKAP12_uc003qoe.2_Missense_Mutation_p.T1724S|AKAP12_uc003qof.2_Missense_Mutation_p.T1626S|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T1619S	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1724					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			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGGCTTAACCAAAGAGTCC	0.438													G	151674697	C	G	151674697	3	3	284	1	0	0	0	0	1	0	0	0	448	507	18	5	5210	5	AKAP12	6	151674697	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	17896941	151674697	19440370	72	146790											
WIPI2	26100	broad.mit.edu	37	chr7	5256764	5256764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgacaactgctacttggcGtacccagggagcgcgaccat	11	13	0	0	rs149226373	byFrequency	TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:5256764G>A	uc003snv.2	+	6	738	c.522G>A	c.(520-522)GCG>GCA	p.A174A	WIPI2_uc003snw.2_Silent_p.A174A|WIPI2_uc003snx.2_Silent_p.A156A|WIPI2_uc003sny.2_Silent_p.A156A|WIPI2_uc010ksv.2_Silent_p.A30A|WIPI2_uc003snz.2_Silent_p.A115A|WIPI2_uc003soa.2_Silent_p.A115A	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	174					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCTACTTGGCGTACCCAGGGA	0.512													A	5256764	G	A	5256764	2	1	284	1	0	0	0	0	0	0	0	1	17368	1132	40	1		1	WIPI2	7	5256764	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		5256764	153881899	73	146791											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26233297	26233297	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctccataaccggggcTacctccaaaattgccaccta	5	17	0	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:26233297T>A	uc003sxr.3	-	9	991	c.775A>T	c.(775-777)AGC>TGC	p.S259C	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.S247C	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	259	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TAACCGGGGCTACCTCCAAAA	0.448			T	ETV1	prostate								A	26233297	T	A	26233297	3	1	284	1	0	0	0	0	1	0	0	0	7259	1522	53	5	298	5	HNRNPA2B1	7	26233297	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	20976533	26233297	132905366	74	146792											
BBS9	27241	broad.mit.edu	37	chr7	33384196	33384196	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caattctgtgtttacagcaaGcgaccgatgttgaggtggga	13	7	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:33384196G>C	uc003tdn.1	+	12	1792	c.1279G>C	c.(1279-1281)GCG>CCG	p.A427P	BBS9_uc003tdo.1_Missense_Mutation_p.A427P|BBS9_uc003tdp.1_Missense_Mutation_p.A427P|BBS9_uc003tdq.1_Missense_Mutation_p.A427P|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.A305P	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	427					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			TTTACAGCAAGCGACCGATGT	0.388									Bardet-Biedl_syndrome				C	33384196	G	C	33384196	3	2	284	1	0	0	0	0	1	0	0	0	1342	971	34	5	1321	5	BBS9	7	33384196	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	7150899	33384196	125754467	75	146793											
NPSR1	387129	broad.mit.edu	37	chr7	34888196	34888196	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctatgcctctgtgatcattCagaacctgccagcattgaat	7	11	4	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:34888196C>A	uc003teg.1	+	8	1074	c.946C>A	c.(946-948)CAG>AAG	p.Q316K	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Q316K|NPSR1_uc010kwt.1_Missense_Mutation_p.Q163K|NPSR1_uc010kwu.1_Missense_Mutation_p.Q106K|NPSR1_uc010kwv.1_Missense_Mutation_p.Q250K|NPSR1_uc003tei.1_Missense_Mutation_p.Q316K|NPSR1_uc010kww.1_Missense_Mutation_p.Q305K|NPSR1_uc011kar.1_Missense_Mutation_p.Q250K	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	316	Helical; Name=7; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	TGTGATCATTCAGAACCTGCC	0.493													A	34888196	C	A	34888196	3	1	284	1	0	0	0	0	1	0	0	0	10600	827	29	5	976	5	NPSR1	7	34888196	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	1504000	34888196	124250467	76	146794											
OGDH	4967	broad.mit.edu	37	chr7	44721435	44721435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggcaccgtgcacgtggtCgtcaacaaccaggtacctca	10	14	2	0	rs140074828		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:44721435C>T	uc003tln.2	+	10	1432	c.1323C>T	c.(1321-1323)GTC>GTT	p.V441V	OGDH_uc011kbx.1_Silent_p.V437V|OGDH_uc011kby.1_Silent_p.V291V|OGDH_uc003tlp.2_Silent_p.V452V|OGDH_uc011kbz.1_Silent_p.V236V|OGDH_uc003tlo.1_Silent_p.V274V	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	441					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TGCACGTGGTCGTCAACAACC	0.527													T	44721435	C	T	44721435	2	4	284	1	0	0	0	0	0	0	0	1	10839	871	31	1		1	OGDH	7	44721435	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	9833239	44721435	114417228	77	146795											
TBRG4	9238	broad.mit.edu	37	chr7	45140909	45140909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgggccagaacaaagCgacccagcaagtccttgctt	11	14	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:45140909C>T	uc003tmv.2	-	10	1868	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	TBRG4_uc003tmu.2_Missense_Mutation_p.R406H|TBRG4_uc003tmw.2_Missense_Mutation_p.R471H|TBRG4_uc003tmx.2_Missense_Mutation_p.R471H|TBRG4_uc011kcd.1_Missense_Mutation_p.R592H	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	581	RAP.				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						CAGAACAAAGCGACCCAGCAA	0.572													T	45140909	C	T	45140909	3	4	284	1	0	0	0	0	1	0	0	0	15646	768	27	1	161	1	TBRG4	7	45140909	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	419474	45140909	113997754	78	146796											
CYP51A1	1595	broad.mit.edu	37	chr7	91761090	91761090	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attatttggaagacttacctTctcatatgcattttctagaa	5	7	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:91761090T>A	uc003ulm.3	-	2	451	c.289A>T	c.(289-291)AAG>TAG	p.K97*	CYP51A1_uc011khn.1_5'UTR|CYP51A1_uc003uln.3_Nonsense_Mutation_p.K34*|uc003ulo.1_5'Flank	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	91					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	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)	AGACTTACCTTCTCATATGCA	0.318													A	91761090	T	A	91761090	4	1	284	1	0	0	0	0	0	1	0	0	4195	1792	62	5	1276	5	CYP51A1	7	91761090	Nonsense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	46620181	91761090	67377573	79	146797											
TRRAP	8295	broad.mit.edu	37	chr7	98609873	98609873	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgacccgcctgcacaacctCgcccagttcgaaggcgggga	12	15	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:98609873C>T	uc003upp.2	+	72	11684	c.11475C>T	c.(11473-11475)CTC>CTT	p.L3825L	TRRAP_uc011kis.1_Silent_p.L3796L|TRRAP_uc003upr.2_Silent_p.L3531L|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3825	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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			TGCACAACCTCGCCCAGTTCG	0.652													T	98609873	C	T	98609873	2	4	284	1	0	0	0	0	0	0	0	1	16598	871	31	1		1	TRRAP	7	98609873	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	6848783	98609873	60528790	80	146798											
DOCK4	9732	broad.mit.edu	37	chr7	111509706	111509706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatttgagcactttgatgAgatctctaaaatacagggga	9	7	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:111509706A>G	uc003vfx.2	-	21	2302	c.2033T>C	c.(2032-2034)CTC>CCC	p.L678P	DOCK4_uc003vfw.2_Missense_Mutation_p.L119P|DOCK4_uc003vfy.2_Missense_Mutation_p.L678P|DOCK4_uc003vga.1_Missense_Mutation_p.L283P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	678					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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CACTTTGATGAGATCTCTAAA	0.408													G	111509706	A	G	111509706	3	3	284	1	0	0	0	0	1	0	0	0	4689	304	11	3	3995	3	DOCK4	7	111509706	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	12899833	111509706	47628957	81	146799											
MKLN1	4289	broad.mit.edu	37	chr7	131128366	131128366	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcttgtttgctttcaactgtCaatgtcaaacctggaaactt	7	9	3	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:131128366C>G	uc011kpm.1	+	11	1364	c.1300C>G	c.(1300-1302)CAA>GAA	p.Q434E	MKLN1_uc011kpl.1_Missense_Mutation_p.Q411E|MKLN1_uc010lmh.2_Missense_Mutation_p.Q434E|MKLN1_uc003vqs.2_Missense_Mutation_p.Q227E	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	434	Kelch 3.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					TTTCAACTGTCAATGTCAAAC	0.453													G	131128366	C	G	131128366	3	3	284	1	0	0	0	0	1	0	0	0	9603	827	29	5	1375	5	MKLN1	7	131128366	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	19618660	131128366	28010297	82	146800											
SSPO	23145	broad.mit.edu	37	chr7	149489542	149489542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagacggacggccccgaCgctgccgactcaacccggac	12	18	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr7:149489542C>T	uc010lpk.2	+	38	5695	c.5695C>T	c.(5695-5697)CGC>TGC	p.R1899C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1899	EGF-like 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACGGCCCCGACGCTGCCGACT	0.692													T	149489542	C	T	149489542	3	4	284	1	0	0	0	0	1	0	0	0	15188	536	19	1	5837	1	SSPO	7	149489542	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	18361176	149489542	9649121	83	146801											
MYOM2	9172	broad.mit.edu	37	chr8	2088737	2088737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccgactgagaaggatAaaggaaaatacacttttgag	12	5	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:2088737A>G	uc003wpx.3	+	33	4030	c.3892A>G	c.(3892-3894)AAA>GAA	p.K1298E	MYOM2_uc011kwi.1_Missense_Mutation_p.K723E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1298					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		TGAGAAGGATAAAGGAAAATA	0.433													G	2088737	A	G	2088737	3	3	284	1	0	0	0	0	1	0	0	0	10092	363	13	3	4018	3	MYOM2	8	2088737	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08		2088737	144275285	84	146802											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189026	11189026	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactgttcgcaaaggttcTtccaccgtatgctccgctgt	9	14	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:11189026T>C	uc003wtp.1	+	1	532	c.411T>C	c.(409-411)TCT>TCC	p.S137S		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	137	DUF6 1.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		GCAAAGGTTCTTCCACCGTAT	0.587													C	11189026	T	C	11189026	2	2	284	1	0	0	0	0	0	0	0	1	560	1596	56	3		3	AMAC1L2	8	11189026	Silent	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	9100289	11189026	135174996	85	146803											
PHYHIP	9796	broad.mit.edu	37	chr8	22081773	22081773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactccttgtgatggttgcGgtagaagacggagaagcgga	16	6	0	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:22081773G>A	uc003xbk.3	-	5	1118	c.424C>T	c.(424-426)CGC>TGC	p.R142C	PHYHIP_uc003xbj.3_Missense_Mutation_p.R142C	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	142											0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGATGGTTGCGGTAGAAGACG	0.622													A	22081773	G	A	22081773	3	1	284	1	0	0	0	0	1	0	0	0	11866	1116	39	1	576	1	PHYHIP	8	22081773	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	10892747	22081773	124282249	86	146804											
FBXO16	157574	broad.mit.edu	37	chr8	28314318	28314318	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaagttctttcaccatttGaatatagtgcttcttccaga	6	8	3	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:28314318G>C	uc003xgu.2	-	5	570	c.472C>G	c.(472-474)CAA>GAA	p.Q158E	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.Q145E|FBXO16_uc003xgw.2_Missense_Mutation_p.Q145E	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	158										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTCACCATTTGAATATAGTGC	0.408													C	28314318	G	C	28314318	3	2	284	1	0	0	0	0	1	0	0	0	5729	1299	45	5	426	5	FBXO16	8	28314318	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	6232545	28314318	118049704	87	146805											
ANK1	286	broad.mit.edu	37	chr8	41526001	41526001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatgagtgtggaccttgCgtgacctcctcttgccagga	13	10	1	2	rs139149232		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:41526001C>T	uc003xok.2	-	39	5262	c.5178G>A	c.(5176-5178)ACG>ACA	p.T1726T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.T880T|ANK1_uc003xoi.2_Silent_p.T1726T|ANK1_uc003xoj.2_Silent_p.T1726T|ANK1_uc003xol.2_Silent_p.T1564T|ANK1_uc003xom.2_Silent_p.T1767T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1726	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	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)			GTGGACCTTGCGTGACCTCCT	0.552													T	41526001	C	T	41526001	2	4	284	1	0	0	0	0	0	0	0	1	620	755	27	1		1	ANK1	8	41526001	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	13211683	41526001	104838021	88	146806											
RGS20	8601	broad.mit.edu	37	chr8	54792024	54792024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggcacgaggagctgccGggccgcctctcgctcctgct	16	15	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:54792024G>A	uc003xrp.2	+	2	464	c.372G>A	c.(370-372)CCG>CCA	p.P124P	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	124					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			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGGAGCTGCCGGGCCGCCTCT	0.791													A	54792024	G	A	54792024	2	1	284	1	0	0	0	0	0	0	0	1	13303	1103	39	1		1	RGS20	8	54792024	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	13266023	54792024	91571998	89	146807											
RDH10	157506	broad.mit.edu	37	chr8	74233246	74233246	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aaaggctgctgaaaaggatgGaattaaaacaaccttggttt	10	5	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:74233246G>C	uc003xzi.2	+	4	964	c.704G>C	c.(703-705)GGA>GCA	p.G235A	RDH10_uc003xzj.2_Missense_Mutation_p.G70A|uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	235					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAAAGGATGGAATTAAAACA	0.413													C	74233246	G	C	74233246	3	2	284	1	0	0	0	0	1	0	0	0	13189	1174	41	5	718	5	RDH10	8	74233246	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	19441222	74233246	72130776	90	146808											
ZFHX4	79776	broad.mit.edu	37	chr8	77768366	77768366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttgatcgtataaagaaagCttcagacgtgctgggcttga	11	7	1	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:77768366C>A	uc003yav.2	+	10	9461	c.9074C>A	c.(9073-9075)GCT>GAT	p.A3025D	ZFHX4_uc003yau.1_Missense_Mutation_p.A3070D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A3025D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3025						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAAAGAAAGCTTCAGACGTG	0.577										HNSCC(33;0.089)			A	77768366	C	A	77768366	3	1	284	1	0	0	0	0	1	0	0	0	17632	797	28	5	9243	5	ZFHX4	8	77768366	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	3535120	77768366	68595656	91	146809											
WWP1	11059	broad.mit.edu	37	chr8	87455005	87455005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattggtcgttttattgccAtggtgagttcctgactttat	9	7	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:87455005A>G	uc003ydt.2	+	18	2276	c.1996A>G	c.(1996-1998)ATG>GTG	p.M666V	WWP1_uc010mai.2_Missense_Mutation_p.M442V	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	666	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			lung(1)|liver(1)	2						TTTTATTGCCATGGTGAGTTC	0.313													G	87455005	A	G	87455005	3	3	284	1	0	0	0	0	1	0	0	0	17412	217	8	3	2058	3	WWP1	8	87455005	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	9686639	87455005	58909017	92	146810											
WWP1	11059	broad.mit.edu	37	chr8	87464854	87464854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttccttgatggtttTaatgaagttgttcctcttca	7	7	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:87464854T>C	uc003ydt.2	+	21	2620	c.2340T>C	c.(2338-2340)TTT>TTC	p.F780F		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	780	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			lung(1)|liver(1)	2						TTGATGGTTTTAATGAAGTTG	0.363													C	87464854	T	C	87464854	2	2	284	1	0	0	0	0	0	0	0	1	17412	1751	61	3		3	WWP1	8	87464854	Silent	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	9849	87464854	58899168	93	146811											
CNGB3	54714	broad.mit.edu	37	chr8	87738794	87738794	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcccggggtccatttccttCtgctctggcactgttccagt	9	14	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:87738794C>G	uc003ydx.2	-	3	349	c.303G>C	c.(301-303)CAG>CAC	p.Q101H		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	101	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						CCATTTCCTTCTGCTCTGGCA	0.438													G	87738794	C	G	87738794	3	3	284	1	0	0	0	0	1	0	0	0	3601	912	32	5	2190	5	CNGB3	8	87738794	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	273940	87738794	58625228	94	146812											
CNBD1	168975	broad.mit.edu	37	chr8	88365873	88365873	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttttaacagaaaagatctCaaaaacttgtttatatgggg	7	4	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:88365873C>T	uc003ydy.2	+	10	1210	c.1162C>T	c.(1162-1164)CAA>TAA	p.Q388*		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	388	cNMP.									ovary(3)	3						GAAAAGATCTCAAAAACTTGT	0.318													T	88365873	C	T	88365873	4	4	284	1	0	0	0	0	0	1	0	0	3591	827	29	4	1200	4	CNBD1	8	88365873	Nonsense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	627079	88365873	57998149	95	146813											
C8orf38	137682	broad.mit.edu	37	chr8	96053846	96053846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggcttatgaaaatcgtcGatgaaagagtgagtcaaaat	11	4	1	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:96053846G>A	uc003yhj.2	+	4	485	c.469G>A	c.(469-471)GAT>AAT	p.D157N	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Missense_Mutation_p.D65N|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.D105N|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.D65N	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	157					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					GAAAATCGTCGATGAAAGAGT	0.284													A	96053846	G	A	96053846	3	1	284	1	0	0	0	0	1	0	0	0	2424	1058	37	1	483	1	C8orf38	8	96053846	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	7687973	96053846	50310176	96	146814											
ANGPT1	284	broad.mit.edu	37	chr8	108306164	108306164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataaattcttgcatcttacCattttatattccttccagcc	2	12	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:108306164C>A	uc003ymn.2	-	6	1506	c.1038G>T	c.(1036-1038)ATG>ATT	p.M346I	ANGPT1_uc011lhv.1_Missense_Mutation_p.M146I|ANGPT1_uc003ymo.2_Missense_Mutation_p.M345I|ANGPT1_uc003ymp.3_Missense_Mutation_p.M145I	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	346	Fibrinogen C-terminal.				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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGCATCTTACCATTTTATATT	0.353													A	108306164	C	A	108306164	3	1	284	1	0	0	0	0	1	0	0	0	610	608	21	5	474	5	ANGPT1	8	108306164	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	12252318	108306164	38057858	97	146815											
CSMD3	114788	broad.mit.edu	37	chr8	114111188	114111188	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgttcctccacaagcatcTtcagctgttaaaaatgacaa	5	10	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:114111188T>G	uc003ynu.2	-	5	873	c.714A>C	c.(712-714)GAA>GAC	p.E238D	CSMD3_uc003ynt.2_Missense_Mutation_p.E198D|CSMD3_uc011lhx.1_Missense_Mutation_p.E238D|CSMD3_uc010mcx.1_Missense_Mutation_p.E238D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	238	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CACAAGCATCTTCAGCTGTTA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	114111188	T	G	114111188	3	3	284	1	0	0	0	0	1	0	0	0	3946	1606	56	5	10677	5	CSMD3	8	114111188	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	5805024	114111188	32252834	98	146816											
GPR20	2843	broad.mit.edu	37	chr8	142367549	142367549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggctggcggcagcggcGggagccttcgggccgcacga	20	13	0	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:142367549G>A	uc003ywf.2	-	2	564	c.475C>T	c.(475-477)CGC>TGC	p.R159C		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	159	Cytoplasmic (Potential).			GSRR -> APAA (in Ref. 1; AAC51302).		integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	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)			CGGCAGCGGCGGGAGCCTTCG	0.692													A	142367549	G	A	142367549	3	1	284	1	0	0	0	0	1	0	0	0	6680	1116	39	1	605	1	GPR20	8	142367549	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	28256361	142367549	3996473	99	146817											
EPPK1	83481	broad.mit.edu	37	chr8	144940957	144940957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaactctaagatgagctgCgctaccgtctgcagtgcccg	10	13	3	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr8:144940957C>T	uc003zaa.1	-	1	6478	c.6465G>A	c.(6463-6465)GCG>GCA	p.A2155A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2155						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	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)			AGATGAGCTGCGCTACCGTCT	0.502													T	144940957	C	T	144940957	2	4	284	1	0	0	0	0	0	0	0	1	5190	755	27	1		1	EPPK1	8	144940957	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	2573408	144940957	1423065	100	146818											
LINGO2	158038	broad.mit.edu	37	chr9	27949741	27949741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtgaggctcaatggtgCgaagctgggcccccactata	14	10	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr9:27949741C>T	uc003zqu.1	-	2	1123	c.929G>A	c.(928-930)CGC>CAC	p.R310H	LINGO2_uc010mjf.1_Missense_Mutation_p.R310H|LINGO2_uc003zqv.1_Missense_Mutation_p.R310H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	310	LRR 11.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)		CTCAATGGTGCGAAGCTGGGC	0.527													T	27949741	C	T	27949741	3	4	284	1	0	0	0	0	1	0	0	0	8815	768	27	1	895	1	LINGO2	9	27949741	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		27949741	113263690	101	146819											
NPR2	4882	broad.mit.edu	37	chr9	35808791	35808791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggcctgaagatgccccGttattgtctttttggagaca	11	8	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr9:35808791G>A	uc003zyd.2	+	20	2927	c.2927G>A	c.(2926-2928)CGT>CAT	p.R976H	NPR2_uc010mlb.2_Missense_Mutation_p.R952H|SPAG8_uc003zye.2_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	976	Guanylate cyclase.|Cytoplasmic (Potential).				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			ovary(2)|stomach(1)	3	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)	AAGATGCCCCGTTATTGTCTT	0.502													A	35808791	G	A	35808791	3	1	284	1	0	0	0	0	1	0	0	0	10595	1145	40	1	3005	1	NPR2	9	35808791	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	7859050	35808791	105404640	102	146820											
IARS	3376	broad.mit.edu	37	chr9	95040490	95040490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatattcacctttcaaggAtctcatagtcactctccaat	4	11	5	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr9:95040490A>G	uc004art.1	-	8	1081	c.824T>C	c.(823-825)ATC>ACC	p.I275T	IARS_uc004ars.1_Missense_Mutation_p.I120T|IARS_uc004aru.3_Missense_Mutation_p.I275T|IARS_uc010mqr.2_Missense_Mutation_p.I165T|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	275					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CCTTTCAAGGATCTCATAGTC	0.348													G	95040490	A	G	95040490	3	3	284	1	0	0	0	0	1	0	0	0	7473	333	12	3	3072	3	IARS	9	95040490	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	59231699	95040490	46172941	103	146821											
CYLC2	1539	broad.mit.edu	37	chr9	105767266	105767266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaattggtaagaaagGtgaagacaagacaacacaga	10	7	0	6			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr9:105767266G>A	uc004bbs.2	+	5	423	c.353G>A	c.(352-354)GGT>GAT	p.G118D		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	118	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				GGTAAGAAAGGTGAAGACAAG	0.219													A	105767266	G	A	105767266	3	1	284	1	0	0	0	0	1	0	0	0	4142	1261	44	4	371	4	CYLC2	9	105767266	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	10726776	105767266	35446165	104	146822											
C9orf4	23732	broad.mit.edu	37	chr9	111909347	111909347	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccattttcttgtctgaaGagaatccaactgctacccaa	5	11	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr9:111909347G>A	uc004bdw.1	-	3	599	c.599C>T	c.(598-600)TCT>TTT	p.S200F		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	hypothetical protein LOC23732	200	DOMON.					integral to membrane					0						CTTGTCTGAAGAGAATCCAAC	0.403													A	111909347	G	A	111909347	3	1	284	1	0	0	0	0	1	0	0	0	2480	942	33	4	447	4	C9orf4	9	111909347	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	6142081	111909347	29304084	105	146823											
ASTN2	23245	broad.mit.edu	37	chr9	119770444	119770444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccctcacccatggggaGgtggcattgatctggtaata	13	9	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr9:119770444G>A	uc004bjs.1	-	7	1619	c.1518C>T	c.(1516-1518)ACC>ACT	p.T506T	ASTN2_uc004bjr.1_Silent_p.T506T|ASTN2_uc004bjt.1_Silent_p.T455T	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	506	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CCCATGGGGAGGTGGCATTGA	0.577													A	119770444	G	A	119770444	2	1	284	1	0	0	0	0	0	0	0	1	1065	987	35	4		4	ASTN2	9	119770444	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	7861097	119770444	21442987	106	146824											
SETX	23064	broad.mit.edu	37	chr9	135156925	135156925	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttattgcagcgatggatgaGtggagtaagagtctcaattt	12	5	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr9:135156925G>C	uc004cbk.2	-	20	6766	c.6583C>G	c.(6583-6585)CTC>GTC	p.L2195V	SETX_uc004cbj.2_Missense_Mutation_p.L1814V|SETX_uc010mzt.2_Missense_Mutation_p.L1814V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2195					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGATGGATGAGTGGAGTAAGA	0.398													C	135156925	G	C	135156925	3	2	284	1	0	0	0	0	1	0	0	0	14141	1029	36	5	1478	5	SETX	9	135156925	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	15386481	135156925	6056506	107	146825											
CALML5	51806	broad.mit.edu	37	chr10	5540985	5540985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctgggcgagcatcctcgcGaactcctcgtagttcacccg	10	16	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr10:5540985G>T	uc001iic.2	-	1	549	c.417C>A	c.(415-417)TTC>TTA	p.F139L		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	139	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding				0						GCATCCTCGCGAACTCCTCGT	0.706													T	5540985	G	T	5540985	3	4	284	1	0	0	0	0	1	0	0	0	2589	1049	37	5	27	5	CALML5	10	5540985	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		5540985	129993762	108	146826											
PCDH15	65217	broad.mit.edu	37	chr10	55721598	55721598	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacttcaaaaatactggcagGgtaaggaaactgtacatcat	8	8	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr10:55721598G>C	uc001jju.1	-	22	3318	c.2923C>G	c.(2923-2925)CCT>GCT	p.P975A	PCDH15_uc010qhq.1_Missense_Mutation_p.P980A|PCDH15_uc010qhr.1_Missense_Mutation_p.P975A|PCDH15_uc010qhs.1_Missense_Mutation_p.P987A|PCDH15_uc010qht.1_Missense_Mutation_p.P982A|PCDH15_uc010qhu.1_Missense_Mutation_p.P975A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P975A|PCDH15_uc010qhw.1_Missense_Mutation_p.P938A|PCDH15_uc010qhx.1_Missense_Mutation_p.P904A|PCDH15_uc010qhy.1_Missense_Mutation_p.P980A|PCDH15_uc010qhz.1_Missense_Mutation_p.P975A|PCDH15_uc010qia.1_Missense_Mutation_p.P953A|PCDH15_uc010qib.1_Missense_Mutation_p.P953A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	975	Extracellular (Potential).|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	p.P975T(1)		pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACTGGCAGGGTAAGGAAAC	0.328										HNSCC(58;0.16)			C	55721598	G	C	55721598	3	2	284	1	0	0	0	0	1	0	0	0	11511	1232	43	5	4611	5	PCDH15	10	55721598	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	50180613	55721598	79813149	109	146827											
CTNNA3	29119	broad.mit.edu	37	chr10	67829243	67829243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcagttgagtcatcTtagcctaaaacatgtgataa	8	9	3	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr10:67829243T>G	uc009xpn.1	-	15	2105	c.1982A>C	c.(1981-1983)AAG>ACG	p.K661T	CTNNA3_uc001jmw.2_Missense_Mutation_p.K661T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	661					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTGAGTCATCTTAGCCTAAAA	0.338													G	67829243	T	G	67829243	3	3	284	1	0	0	0	0	1	0	0	0	4014	1609	56	5	721	5	CTNNA3	10	67829243	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	12107645	67829243	67705504	110	146828											
CDH23	64072	broad.mit.edu	37	chr10	73405660	73405660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatctccccgacctccGtccaggggaaggcggacatt	10	15	3	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr10:73405660G>A	uc001jrx.3	+	12	1590	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	CDH23_uc001jrw.3_Missense_Mutation_p.V405I|CDH23_uc001jry.2_Missense_Mutation_p.V21I|CDH23_uc001jrz.2_Missense_Mutation_p.V21I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	405	Cadherin 4.|Extracellular (Potential).				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			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCCGACCTCCGTCCAGGGGAA	0.567													A	73405660	G	A	73405660	3	1	284	1	0	0	0	0	1	0	0	0	3108	1145	40	1	1342	1	CDH23	10	73405660	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	5576417	73405660	62129087	111	146829											
SORCS3	22986	broad.mit.edu	37	chr10	106907538	106907538	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtctaatggggaacatcaTtattgaattgtatgaggtat	11	3	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr10:106907538T>G	uc001kyi.1	+	9	1693	c.1466T>G	c.(1465-1467)ATT>AGT	p.I489S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	489	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		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)		GGGAACATCATTATTGAATTG	0.378													G	106907538	T	G	106907538	3	3	284	1	0	0	0	0	1	0	0	0	14932	1493	52	5	1500	5	SORCS3	10	106907538	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	33501878	106907538	28627209	112	146830											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357380	118357380	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtttcgagagtactcctgaAgaggtgcgacttgatccctc	11	10	0	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr10:118357380A>T	uc001lco.1	+	7	633	c.615A>T	c.(613-615)GAA>GAT	p.E205D	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E205D|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	205		Calcium; via carbonyl oxygen.			lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		GTACTCCTGAAGAGGTGCGAC	0.488													T	118357380	A	T	118357380	3	4	284	1	0	0	0	0	1	0	0	0	12150	69	3	5	637	5	PNLIPRP1	10	118357380	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	11449842	118357380	17177367	113	146831											
ATE1	11101	broad.mit.edu	37	chr10	123600613	123600613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccgtagtgcagagtagaCgcccaaagacaaaaacgaat	9	9	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr10:123600613C>T	uc001lfp.2	-	9	1223	c.1141G>A	c.(1141-1143)GTC>ATC	p.V381I	ATE1_uc001lfq.2_Missense_Mutation_p.V381I|ATE1_uc010qtr.1_Missense_Mutation_p.V266I|ATE1_uc010qts.1_Missense_Mutation_p.V285I|ATE1_uc010qtt.1_Missense_Mutation_p.V374I|ATE1_uc001lfr.2_Missense_Mutation_p.V82I|ATE1_uc009xzu.2_RNA	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	381					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GCAGAGTAGACGCCCAAAGAC	0.363													T	123600613	C	T	123600613	3	4	284	1	0	0	0	0	1	0	0	0	1078	536	19	1	431	1	ATE1	10	123600613	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	5243233	123600613	11934134	114	146832											
MUC5B	727897	broad.mit.edu	37	chr11	1264247	1264247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaccccaggaacagCtcacactaccaaagtgccaa	5	18	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:1264247C>T	uc009ycr.1	+	47	8342	c.8216C>T	c.(8215-8217)GCT>GTT	p.A2739V	MUC5B_uc001ltb.2_Missense_Mutation_p.A2049V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2046	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CCAGGAACAGCTCACACTACC	0.642													T	1264247	C	T	1264247	3	4	284	1	0	0	0	0	1	0	0	0	9979	797	28	2	6268	2	MUC5B	11	1264247	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		1264247	133742269	115	146833											
DCHS1	8642	broad.mit.edu	37	chr11	6648254	6648254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagtgccaggaggtggtgTgcctgccagccggtacagaa	16	9	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:6648254T>C	uc001mem.1	-	14	6426	c.6016A>G	c.(6016-6018)ACA>GCA	p.T2006A		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2006	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGTGGTGTGCCTGCCAGC	0.587													C	6648254	T	C	6648254	3	2	284	1	0	0	0	0	1	0	0	0	4287	1696	59	3	3912	3	DCHS1	11	6648254	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	5384007	6648254	128358262	116	146834											
RBMXL2	27288	broad.mit.edu	37	chr11	7111053	7111053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggggttttgccccctcGcccggagagtacacccaccg	11	19	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:7111053G>A	uc001mfc.2	+	1	889	c.702G>A	c.(700-702)TCG>TCA	p.S234S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	234	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGCCCCCTCGCCCGGAGAGT	0.687													A	7111053	G	A	7111053	2	1	284	1	0	0	0	0	0	0	0	1	13154	1074	38	1		1	RBMXL2	11	7111053	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	462799	7111053	127895463	117	146835											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955509	18955509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgcctaaaggagcccaCgaagaagtaaatgatggggt	13	8	0	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:18955509C>T	uc001mpg.2	-	1	1041	c.823G>A	c.(823-825)GTG>ATG	p.V275M		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	275	Helical; Name=7; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						AAGGAGCCCACGAAGAAGTAA	0.507													T	18955509	C	T	18955509	3	4	284	1	0	0	0	0	1	0	0	0	9766	536	19	1	149	1	MRGPRX1	11	18955509	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	11844456	18955509	116051007	118	146836											
NAV2	89797	broad.mit.edu	37	chr11	19955484	19955484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcccacagtggaatacCaaaaccaggaatgaaaagca	7	12	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:19955484C>T	uc010rdm.1	+	8	2124	c.1763C>T	c.(1762-1764)CCA>CTA	p.P588L	NAV2_uc001mpp.2_Missense_Mutation_p.P501L|NAV2_uc001mpr.3_Missense_Mutation_p.P565L	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	588						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AGTGGAATACCAAAACCAGGA	0.572													T	19955484	C	T	19955484	3	4	284	1	0	0	0	0	1	0	0	0	10184	594	21	4	1799	4	NAV2	11	19955484	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	999975	19955484	115051032	119	146837											
DCDC1	341019	broad.mit.edu	37	chr11	31128443	31128443	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcaaaaagccgcattgaaGaataattgaggcctggtggg	12	7	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:31128443G>T	uc001msu.1	-	13	1742	c.509C>A	c.(508-510)TCT>TAT	p.S170Y	uc009yjk.1_5'UTR|uc009yjl.1_5'UTR			P59894	DCDC1_HUMAN	SubName: Full=Putative uncharacterized protein ENSP00000343496;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					CCGCATTGAAGAATAATTGAG	0.438											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	31128443	G	T	31128443	3	4	284	1	0	0	0	0	1	0	0	0	4284	957	33	5		5	DCDC1	11	31128443	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	11172959	31128443	103878073	120	146838											
OR8J1	219477	broad.mit.edu	37	chr11	56127940	56127940	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctctcattaatcttggtaActctactgtcattgccccta	6	12	4	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:56127940A>C	uc010rjh.1	+	1	218	c.218A>C	c.(217-219)AAC>ACC	p.N73T		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AATCTTGGTAACTCTACTGTC	0.443													C	56127940	A	C	56127940	3	2	284	1	0	0	0	0	1	0	0	0	11241	43	2	5	220	5	OR8J1	11	56127940	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	24999497	56127940	78878576	121	146839											
GLYATL1	92292	broad.mit.edu	37	chr11	58723084	58723084	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctttttgttgtctacagtGaaactcccaactttaagtat	5	8	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:58723084G>A	uc001nnf.2	+	8	869	c.493G>A	c.(493-495)GAA>AAA	p.E165K	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.E196K|GLYATL1_uc001nni.1_Missense_Mutation_p.E165K|GLYATL1_uc001nnj.1_Missense_Mutation_p.E165K			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	165						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	TGTCTACAGTGAAACTCCCAA	0.428													A	58723084	G	A	58723084	3	1	284	1	0	0	0	0	1	0	0	0	6480	1304	45	4	612	4	GLYATL1	11	58723084	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	2595144	58723084	76283432	122	146840											
MAP4K2	5871	broad.mit.edu	37	chr11	64564001	64564001	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacgttgttcacgcagtagaGccaggagcagcgatgtgaaa	13	9	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:64564001G>C	uc001obh.2	-	23	1689	c.1597C>G	c.(1597-1599)CTC>GTC	p.L533V	MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.L525V	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	533	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						ACGCAGTAGAGCCAGGAGCAG	0.662													C	64564001	G	C	64564001	3	2	284	1	0	0	0	0	1	0	0	0	9260	971	34	5	905	5	MAP4K2	11	64564001	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	5840917	64564001	70442515	123	146841											
LRP5	4041	broad.mit.edu	37	chr11	68201141	68201141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtatccccggggcctggCgctgtgacggctttcccgag	14	14	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:68201141C>T	uc001ont.2	+	18	3910	c.3835C>T	c.(3835-3837)CGC>TGC	p.R1279C	LRP5_uc009ysg.2_Missense_Mutation_p.R689C	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1279	LDL-receptor class A 1.|Extracellular (Potential).				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			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGGGGCCTGGCGCTGTGACGG	0.677													T	68201141	C	T	68201141	3	4	284	1	0	0	0	0	1	0	0	0	8960	768	27	1	3905	1	LRP5	11	68201141	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	3637140	68201141	66805375	124	146842											
GDPD5	81544	broad.mit.edu	37	chr11	75188719	75188719	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaacggcagccgtagatgCccgtgaggcaggagaggcac	15	12	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:75188719C>A	uc001owo.3	-	4	599	c.62G>T	c.(61-63)GGC>GTC	p.G21V	GDPD5_uc001owp.3_Missense_Mutation_p.G21V|GDPD5_uc009yuc.2_5'UTR|GDPD5_uc009yud.2_Missense_Mutation_p.G21V	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	21	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1						GCCGTAGATGCCCGTGAGGCA	0.662													A	75188719	C	A	75188719	3	1	284	1	0	0	0	0	1	0	0	0	6327	739	26	5	1815	5	GDPD5	11	75188719	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	6987578	75188719	59817797	125	146843											
TAF1D	79101	broad.mit.edu	37	chr11	93471662	93471662	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctatcagaagagttAtcactagaaaaatgggaaaa	9	5	2	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:93471662A>T	uc001ped.2	-	3	274	c.72T>A	c.(70-72)GAT>GAA	p.D24E	SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CAGAAGAGTTATCACTAGAAA	0.338													T	93471662	A	T	93471662	3	4	284	1	0	0	0	0	1	0	0	0	15519	446	16	5	780	5	TAF1D	11	93471662	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	18282943	93471662	41534854	126	146844											
KBTBD3	143879	broad.mit.edu	37	chr11	105929644	105929644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgatgacacgggattatttCatctttcataattattttga	6	6	3	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:105929644C>T	uc001pja.2	-	3	821	c.181G>A	c.(181-183)GAA>AAA	p.E61K	KBTBD3_uc001pjb.2_Missense_Mutation_p.E61K|KBTBD3_uc009yxm.2_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	57	BTB.									ovary(1)|central_nervous_system(1)	2		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)		GGGATTATTTCATCTTTCATA	0.318													T	105929644	C	T	105929644	3	4	284	1	0	0	0	0	1	0	0	0	7994	835	29	4	1665	4	KBTBD3	11	105929644	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	12457982	105929644	29076872	127	146845											
CLDN25	644672	broad.mit.edu	37	chr11	113650613	113650613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttaccaccatcctgccccaGtggaagactcttaatctgga	8	13	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr11:113650613G>T	uc009yyw.1	+	1	96	c.96G>T	c.(94-96)CAG>CAT	p.Q32H		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	32	Extracellular (Potential).					integral to membrane|tight junction	structural molecule activity				0						TCCTGCCCCAGTGGAAGACTC	0.562													T	113650613	G	T	113650613	3	4	284	1	0	0	0	0	1	0	0	0	3485	1020	36	5	98	5	CLDN25	11	113650613	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	7720969	113650613	21355903	128	146846											
A2ML1	144568	broad.mit.edu	37	chr12	8975820	8975820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggctaaatttcccctcCgttcagaaggtttgtttgga	10	11	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr12:8975820C>T	uc001quz.3	+	2	203	c.105C>T	c.(103-105)TCC>TCT	p.S35S		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	Error:Variant_position_missing_in_B3KVV6_after_alignment						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ATTTCCCCTCCGTTCAGAAGG	0.443													T	8975820	C	T	8975820	2	4	284	1	0	0	0	0	0	0	0	1	5	639	23	1		1	A2ML1	12	8975820	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		8975820	124876075	129	146847											
ETV6	2120	broad.mit.edu	37	chr12	12006418	12006418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggaaacctcggattcTtttttcaccattcttccacc	6	13	3	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr12:12006418T>C	uc001qzz.2	+	4	660	c.386T>C	c.(385-387)CTT>CCT	p.L129P		NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	129						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCTCGGATTCTTTTTTCACCA	0.428			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								C	12006418	T	C	12006418	3	2	284	1	0	0	0	0	1	0	0	0	5283	1609	56	3	400	3	ETV6	12	12006418	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	3030598	12006418	121845477	130	146848											
MLL2	8085	broad.mit.edu	37	chr12	49431844	49431844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagcagggggagggcGctcctcagggcccaagggtc	17	12	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr12:49431844G>A	uc001rta.3	-	34	9295	c.9295C>T	c.(9295-9297)CGC>TGC	p.R3099C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3099					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGGGAGGGCGCTCCTCAGGG	0.647			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49431844	G	A	49431844	3	1	284	1	0	0	0	0	1	0	0	0	9621	1087	38	1	7402	1	MLL2	12	49431844	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	37425426	49431844	84420051	131	146849											
ZMYM2	7750	broad.mit.edu	37	chr13	20632802	20632802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaacaatgacaaaagctActtactgtaaacctcacatg	4	10	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:20632802A>G	uc001umr.2	+	16	2879	c.2581A>G	c.(2581-2583)ACT>GCT	p.T861A	ZMYM2_uc001ums.2_Missense_Mutation_p.T861A|ZMYM2_uc001umt.2_Missense_Mutation_p.T861A|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.T241A|ZMYM2_uc001umw.2_Missense_Mutation_p.T314A	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	861					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		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)		GACAAAAGCTACTTACTGTAA	0.413													G	20632802	A	G	20632802	3	3	284	1	0	0	0	0	1	0	0	0	17697	391	14	3	2631	3	ZMYM2	13	20632802	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08		20632802	94537076	132	146850											
RNF6	6049	broad.mit.edu	37	chr13	26789264	26789264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactactgaaattagtgCgtgaagcgttagctcgagga	13	6	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:26789264C>T	uc001uqo.2	-	5	1046	c.755G>A	c.(754-756)CGC>CAC	p.R252H	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.R252H|RNF6_uc001uqp.2_Missense_Mutation_p.R252H|RNF6_uc001uqq.2_Missense_Mutation_p.R252H|RNF6_uc010tdk.1_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	252					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			ovary(1)|skin(1)	2	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)		GAAATTAGTGCGTGAAGCGTT	0.493													T	26789264	C	T	26789264	3	4	284	1	0	0	0	0	1	0	0	0	13498	768	27	1	1306	1	RNF6	13	26789264	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	6156462	26789264	88380614	133	146851											
RXFP2	122042	broad.mit.edu	37	chr13	32367089	32367089	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctggatggcgggattTttaatagctgtaattccatt	10	6	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:32367089T>A	uc001utt.2	+	16	1721	c.1650T>A	c.(1648-1650)TTT>TTA	p.F550L	RXFP2_uc010aba.2_Missense_Mutation_p.F509L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	550	Helical; Name=4; (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGCGGGATTTTTAATAGCTG	0.388													A	32367089	T	A	32367089	3	1	284	1	0	0	0	0	1	0	0	0	13760	1838	64	5	1712	5	RXFP2	13	32367089	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	5577825	32367089	82802789	134	146852											
STARD13	90627	broad.mit.edu	37	chr13	33741695	33741695	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggctgacgtaccctcataTaactgagcgtattgcgggaa	12	9	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:33741695T>G	uc001uuw.2	-	2	360	c.234A>C	c.(232-234)TTA>TTC	p.L78F	STARD13_uc001uuu.2_Missense_Mutation_p.L70F|STARD13_uc001uuv.2_5'UTR|STARD13_uc001uux.2_Missense_Mutation_p.L43F|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.L63F	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	78	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	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)		TACCCTCATATAACTGAGCGT	0.443													G	33741695	T	G	33741695	3	3	284	1	0	0	0	0	1	0	0	0	15255	1403	49	5	3159	5	STARD13	13	33741695	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	1374606	33741695	81428183	135	146853											
ALG5	29880	broad.mit.edu	37	chr13	37539797	37539797	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acactgtgtgtccctgattcCtttgacacaaaggaaccaca	7	12	0	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:37539797C>G	uc001uvy.2	-	8	755	c.688G>C	c.(688-690)GGA>CGA	p.G230R	ALG5_uc010teq.1_Missense_Mutation_p.G200R|ALG5_uc010ter.1_RNA	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	dolichyl-phosphate beta-glucosyltransferase	230	Lumenal (Potential).				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				0		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)		TCCCTGATTCCTTTGACACAA	0.418													G	37539797	C	G	37539797	3	3	284	1	0	0	0	0	1	0	0	0	521	690	24	5	298	5	ALG5	13	37539797	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	3798102	37539797	77630081	136	146854											
KIAA0564	23078	broad.mit.edu	37	chr13	42149950	42149950	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaccaatgttgtagccatCtccagagtgtccaacgatgt	9	11	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:42149950C>G	uc001uyj.2	-	43	5366	c.5296G>C	c.(5296-5298)GAT>CAT	p.D1766H		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1766	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTGTAGCCATCTCCAGAGTGT	0.353													G	42149950	C	G	42149950	3	3	284	1	0	0	0	0	1	0	0	0	8185	913	32	5	433	5	KIAA0564	13	42149950	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	4610153	42149950	73019928	137	146855											
PCDH20	64881	broad.mit.edu	37	chr13	61985618	61985618	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgagtcggttctattgagaTttgtggttctttctcctcta	9	7	4	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:61985618T>A	uc001vid.3	-	2	2978	c.2614A>T	c.(2614-2616)ATC>TTC	p.I872F	PCDH20_uc010thj.1_Missense_Mutation_p.I872F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	845	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTATTGAGATTTGTGGTTCT	0.398													A	61985618	T	A	61985618	3	1	284	1	0	0	0	0	1	0	0	0	11515	1493	52	5	245	5	PCDH20	13	61985618	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	19835668	61985618	53184260	138	146856											
SLITRK1	114798	broad.mit.edu	37	chr13	84454217	84454217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggttgttgttgagaatgaGgatcctcagtttgggcatgg	15	5	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:84454217G>T	uc001vlk.2	-	1	2312	c.1426C>A	c.(1426-1428)CTC>ATC	p.L476I		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	476	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGAGAATGAGGATCCTCAGT	0.527													T	84454217	G	T	84454217	3	4	284	1	0	0	0	0	1	0	0	0	14742	1000	35	5	668	5	SLITRK1	13	84454217	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	22468599	84454217	30715661	139	146857											
GPC5	2262	broad.mit.edu	37	chr13	92346004	92346004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactggcatgcatatatcCggtcgttggaagaactctcg	10	11	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr13:92346004C>T	uc010tif.1	+	3	1255	c.889C>T	c.(889-891)CGG>TGG	p.R297W		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	297						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCATATATCCGGTCGTTGGA	0.512													T	92346004	C	T	92346004	3	4	284	1	0	0	0	0	1	0	0	0	6601	643	23	1	899	1	GPC5	13	92346004	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	7891787	92346004	22823874	140	146858											
TOX4	9878	broad.mit.edu	37	chr14	21960818	21960818	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttgttaactccaccctttCatcctatgtggcaaaccagg	7	12	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr14:21960818C>T	uc001waz.2	+	7	1146	c.1043C>T	c.(1042-1044)TCA>TTA	p.S348L	TOX4_uc001way.2_Missense_Mutation_p.S218L|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.S325L|TOX4_uc010tlv.1_Missense_Mutation_p.S218L	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	348						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCCACCCTTTCATCCTATGTG	0.493													T	21960818	C	T	21960818	3	4	284	1	0	0	0	0	1	0	0	0	16377	838	29	4	1069	4	TOX4	14	21960818	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		21960818	85388722	141	146859											
MDGA2	161357	broad.mit.edu	37	chr14	47342743	47342743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacagggctgagaagtcgaGccttttcgccttccaatctg	10	11	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr14:47342743G>T	uc001wwj.3	-	14	2634	c.2438C>A	c.(2437-2439)GCT>GAT	p.A813D	MDGA2_uc001wwh.3_Missense_Mutation_p.A15D|MDGA2_uc001wwi.3_Missense_Mutation_p.A584D|MDGA2_uc010ani.2_Missense_Mutation_p.A373D	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	813	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						GAGAAGTCGAGCCTTTTCGCC	0.378													T	47342743	G	T	47342743	3	4	284	1	0	0	0	0	1	0	0	0	9407	971	34	5	448	5	MDGA2	14	47342743	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	25381925	47342743	60006797	142	146860											
SOS2	6655	broad.mit.edu	37	chr14	50597407	50597407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtgacctcgtaaagtaCctgaggtagagccatgtcgg	14	8	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr14:50597407C>T	uc001wxs.3	-	20	3247	c.3149G>A	c.(3148-3150)GGT>GAT	p.G1050D	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.G1017D	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1050					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			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCGTAAAGTACCTGAGGTAGA	0.418													T	50597407	C	T	50597407	3	4	284	1	0	0	0	0	1	0	0	0	14937	507	18	4	865	4	SOS2	14	50597407	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	3254664	50597407	56752133	143	146861											
MED6	10001	broad.mit.edu	37	chr14	71064347	71064347	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taacttacttcaagtgttctAatgttagcctctgcattttg	6	8	3	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr14:71064347A>T	uc001xmf.2	-	2	200	c.170T>A	c.(169-171)TTA>TAA	p.L57*	MED6_uc010tth.1_Nonsense_Mutation_p.L57*|MED6_uc010tti.1_Nonsense_Mutation_p.L57*|MED6_uc001xmg.1_Nonsense_Mutation_p.L57*|MED6_uc010ttj.1_Nonsense_Mutation_p.L57*	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	57					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		CAAGTGTTCTAATGTTAGCCT	0.348													T	71064347	A	T	71064347	4	4	284	1	0	0	0	0	0	1	0	0	9451	372	13	5	598	5	MED6	14	71064347	Nonsense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	20466940	71064347	36285193	144	146862											
GABRA5	2558	broad.mit.edu	37	chr15	27185160	27185160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttccctgcataatgacCgtgatcttatcacaggtgtc	7	12	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:27185160C>T	uc001zbd.1	+	10	1152	c.813C>T	c.(811-813)ACC>ACT	p.T271T	GABRB3_uc001zbb.2_5'Flank	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	271	Helical; (Potential).				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			ovary(1)	1		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)	GCATAATGACCGTGATCTTAT	0.498													T	27185160	C	T	27185160	2	4	284	1	0	0	0	0	0	0	0	1	6164	639	23	1		1	GABRA5	15	27185160	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		27185160	75346232	145	146863											
ZNF770	54989	broad.mit.edu	37	chr15	35275208	35275208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatcagacttagagcacGggtgtaatgcccatctttcc	11	10	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:35275208G>A	uc001ziw.2	-	3	739	c.428C>T	c.(427-429)CCG>CTG	p.P143L		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		CTTAGAGCACGGGTGTAATGC	0.388													A	35275208	G	A	35275208	3	1	284	1	0	0	0	0	1	0	0	0	18140	1116	39	1	1651	1	ZNF770	15	35275208	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	8090048	35275208	67256184	146	146864											
TYRO3	7301	broad.mit.edu	37	chr15	41864735	41864735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctgcatgccttcctgctCgcctcccggattggggagaa	12	14	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:41864735C>T	uc001zof.1	+	15	2072	c.1848C>T	c.(1846-1848)CTC>CTT	p.L616L		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	616	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		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)		CCTTCCTGCTCGCCTCCCGGA	0.617													T	41864735	C	T	41864735	2	4	284	1	0	0	0	0	0	0	0	1	16811	871	31	1		1	TYRO3	15	41864735	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	6589527	41864735	60666657	147	146865											
PYGO1	26108	broad.mit.edu	37	chr15	55841186	55841186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaacccatccagtccactAtcaccacctaaaaaaaaaaa	1	15	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:55841186A>G	uc010bfl.1	-	2	113	c.57T>C	c.(55-57)GAT>GAC	p.D19D	PYGO1_uc002adf.1_Silent_p.D19D	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	19					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CCAGTCCACTATCACCACCTA	0.338													G	55841186	A	G	55841186	2	3	284	1	0	0	0	0	0	0	0	1	12863	446	16	3		3	PYGO1	15	55841186	Silent	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	13976451	55841186	46690206	148	146866											
CILP	8483	broad.mit.edu	37	chr15	65490372	65490372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaccttaacaaagcacCgcctgctttcaggaacatcc	5	17	2	0	rs139906949		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:65490372C>T	uc002aon.2	-	9	2433	c.2252G>A	c.(2251-2253)CGG>CAG	p.R751Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	751					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						AACAAAGCACCGCCTGCTTTC	0.512													T	65490372	C	T	65490372	3	4	284	1	0	0	0	0	1	0	0	0	3429	652	23	1	1306	1	CILP	15	65490372	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	9649186	65490372	37041020	149	146867											
TLE3	7090	broad.mit.edu	37	chr15	70366884	70366884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtaccccgatgatggcGttcagctccgtcatggtgac	11	14	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:70366884G>A	uc002asm.2	-	6	1479	c.360C>T	c.(358-360)AAC>AAT	p.N120N	TLE3_uc002ask.2_Silent_p.N54N|TLE3_uc002asl.2_Silent_p.N126N|TLE3_uc010ukd.1_Silent_p.N113N|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Silent_p.N120N|TLE3_uc002asn.2_Silent_p.N120N|TLE3_uc002asp.2_Silent_p.N120N|TLE3_uc002aso.2_Silent_p.N120N|TLE3_uc010bim.1_RNA	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	120	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						CGATGATGGCGTTCAGCTCCG	0.552													A	70366884	G	A	70366884	2	1	284	1	0	0	0	0	0	0	0	1	15937	1136	40	1		1	TLE3	15	70366884	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	4876512	70366884	32164508	150	146868											
ACSBG1	23205	broad.mit.edu	37	chr15	78466820	78466820	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatcttcacggcctcctcGatgggcacagggggcacatt	11	14	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:78466820G>A	uc002bdh.2	-	12	1805	c.1749C>T	c.(1747-1749)ATC>ATT	p.I583I	ACSBG1_uc010umw.1_Silent_p.I579I|ACSBG1_uc010umx.1_Silent_p.I341I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	583					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			ovary(1)	1						CGGCCTCCTCGATGGGCACAG	0.592													A	78466820	G	A	78466820	2	1	284	1	0	0	0	0	0	0	0	1	173	1048	37	1		1	ACSBG1	15	78466820	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	8099936	78466820	24064572	151	146869											
AKAP13	11214	broad.mit.edu	37	chr15	86118467	86118468	+	Frame_Shift_Ins	INS	-	-	CT													tggacatctatacattaaccINStctgagtctgattcacatca							TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr15:86118466_86118467C>CCT	uc002blv.1	+	5	937_938	c.767_768C>CCT	c.(766-768)accfs	p.T256fs	AKAP13_uc002blt.1_Frame_Shift_Ins_p.T256fs|AKAP13_uc002blu.1_Frame_Shift_Ins_p.T256fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	256					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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|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						TATACATTAACCTCTGAGTCTG	0.426													CT	86118468	-	CT	86118467	7	5	284	1	0	1	1	0	0	0	0	0	449	668	24	0	786	0	AKAP13	15	86118467	Frame_Shift_Ins	INS	-	TCGA-HU-A4HD-01A-11D-A25D-08	7651647	86118467	16412925	152	146870											
TELO2	9894	broad.mit.edu	37	chr16	1550474	1550474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcggggagccggaactgCgggacagccgggatggtgag	19	9	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr16:1550474C>T	uc002cly.2	+	8	1420	c.1129C>T	c.(1129-1131)CGG>TGG	p.R377W	TELO2_uc010uvg.1_Missense_Mutation_p.R377W	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	377						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GCCGGAACTGCGGGACAGCCG	0.716													T	1550474	C	T	1550474	3	4	284	1	0	0	0	0	1	0	0	0	15754	759	27	1	1155	1	TELO2	16	1550474	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		1550474	88804279	153	146871											
OR1F1	4992	broad.mit.edu	37	chr16	3254894	3254894	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatttctttgcatcctggcTtcttatatgcacatcacctg	5	13	3	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr16:3254894T>G	uc010uwu.1	+	1	648	c.648T>G	c.(646-648)GCT>GCG	p.A216A		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCATCCTGGCTTCTTATATGC	0.517													G	3254894	T	G	3254894	2	3	284	1	0	0	0	0	0	0	0	1	10956	1596	56	5		5	OR1F1	16	3254894	Silent	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	1704420	3254894	87099859	154	146872											
ACSM2A	123876	broad.mit.edu	37	chr16	20487000	20487000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccatctacagaactgcGtcactgtaggggagtccctt	9	14	2	1	rs4643305		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr16:20487000G>A	uc010bwe.2	+	9	1242	c.1003G>A	c.(1003-1005)GTC>ATC	p.V335I	ACSM2A_uc010vax.1_Missense_Mutation_p.V256I|ACSM2A_uc002dhf.3_Missense_Mutation_p.V335I|ACSM2A_uc002dhg.3_Missense_Mutation_p.V335I|ACSM2A_uc010vay.1_Missense_Mutation_p.V256I|ACSM2A_uc002dhh.3_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	335					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						ACAGAACTGCGTCACTGTAGG	0.517													A	20487000	G	A	20487000	3	1	284	1	0	0	0	0	1	0	0	0	183	1145	40	1	1029	1	ACSM2A	16	20487000	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	17232106	20487000	69867753	155	146873											
SETD1A	9739	broad.mit.edu	37	chr16	30970468	30970468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgttgccatgtcaggtcCaaaaacagagacttttccct	7	14	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr16:30970468C>T	uc002ead.1	+	3	893	c.207C>T	c.(205-207)TCC>TCT	p.S69S	SETD1A_uc002eae.1_Silent_p.S69S	NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	69					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			ovary(2)|skin(1)	3						ATGTCAGGTCCAAAAACAGAG	0.517													T	30970468	C	T	30970468	2	4	284	1	0	0	0	0	0	0	0	1	14130	581	21	4		4	SETD1A	16	30970468	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	10483468	30970468	59384285	156	146874											
KCTD19	146212	broad.mit.edu	37	chr16	67329237	67329237	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggaacatctggccatcCccgtggatgagcagggtttg	14	10	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr16:67329237C>G	uc002esu.2	-	9	1371	c.1320G>C	c.(1318-1320)GGG>GGC	p.G440G	KCTD19_uc002est.2_Silent_p.G212G|KCTD19_uc010vjj.1_Silent_p.G183G	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	440	BTB 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TCTGGCCATCCCCGTGGATGA	0.488													G	67329237	C	G	67329237	2	3	284	1	0	0	0	0	0	0	0	1	8106	610	22	5		5	KCTD19	16	67329237	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	36358769	67329237	23025516	157	146875											
ADAD2	161931	broad.mit.edu	37	chr16	84224934	84224934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccagccccgcccctggcGaccgctacccgcccaggccc	9	26	0	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr16:84224934G>A	uc002fhr.2	+	1	212	c.98G>A	c.(97-99)CGA>CAA	p.R33Q	ADAD2_uc002fhq.2_Missense_Mutation_p.R33Q	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	33					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						CGCCCCTGGCGACCGCTACCC	0.622													A	84224934	G	A	84224934	3	1	284	1	0	0	0	0	1	0	0	0	232	1058	37	1	100	1	ADAD2	16	84224934	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	16895697	84224934	6129819	158	146876											
MINK1	50488	broad.mit.edu	37	chr17	4794324	4794324	+	Frame_Shift_Del	DEL	C	C	-													caggcagcacggggcctgagCcccccatcccccaggcctcc							TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:4794324delC	uc010vsl.1	+	15	1841	c.1645delC	c.(1645-1647)CCCfs	p.P549fs	MINK1_uc010vsk.1_Frame_Shift_Del_p.P549fs|MINK1_uc010vsm.1_Frame_Shift_Del_p.P549fs|MINK1_uc010vsn.1_Frame_Shift_Del_p.P549fs|MINK1_uc010vso.1_Frame_Shift_Del_p.P494fs|MINK1_uc010vsp.1_Frame_Shift_Del_p.P39fs	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	549					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						GGGGCCTGAGCCCCCCATCCC	0.627													-	4794324	C	-	4794324	7	5	284	1	0	1	0	1	0	0	0	0	9587	739	26	0	1442	0	MINK1	17	4794324	Frame_Shift_Del	DEL	C	TCGA-HU-A4HD-01A-11D-A25D-08		4794324	76400886	159	146877											
TP53	7157	broad.mit.edu	37	chr17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G													gctgctggtgcaggggccacINSggggggagcagcctctggca					rs56275308		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:7579470_7579471insG	uc002gim.2	-	4	410_411	c.216_217insC	c.(214-219)CCCGTGfs	p.P72fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P72fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.P72fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P72fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.P33fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.P87fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	72_73	Interaction with WWOX.|Interaction with HRMT1L2.		V -> M (in sporadic cancers; somatic mutation).|V -> E (in a sporadic cancer; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.R72fs*51(6)|p.V73L(3)|p.G59fs*23(3)|p.R72C(2)|p.V73fs*76(2)|p.R72H(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)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			G	7579471	-	G	7579470	7	5	284	1	0	1	1	0	0	0	0	0	16378	536	19	0	1085	0	TP53	17	7579470	Frame_Shift_Ins	INS	-	TCGA-HU-A4HD-01A-11D-A25D-08	2785146	7579470	73615740	160	146878	782	2									
TP53	7157	broad.mit.edu	37	chr17	7579471	7579472	+	Frame_Shift_Ins	INS	-	-	G													ctgctggtgcaggggccacgINSgggggagcagcctctggcat					rs56275308		TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:7579470_7579471C>CG	uc002gim.2	-	3	410_411	c.216_217G>CG	c.(214-219)cccgtgfs	p.P72fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gih.3_Frame_Shift_Ins_p.P72fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Ins_p.P72fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P72fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P72fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Frame_Shift_Ins_p.P33fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.P87fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(16)|p.R72fs*51(9)|p.0?(8)|p.V73L(6)|p.V73M(4)|p.G59fs*23(3)|p.R72P(3)|p.V73fs*50(3)|p.D57_A76del20(2)|p.V73fs*9(2)|p.R72H(2)|p.R72C(2)|p.P71fs*78(1)|p.P71fs*79(1)|p.E68fs*76(1)|p.P13fs*18(1)|p.P71fs*53(1)|p.D48fs*55(1)|p.S33fs*23(1)|p.V73fs*75(1)|p.R65_P71delRMPEAAP(1)|p.R65fs*38(1)|p.E68_A78del(1)|p.V73E(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)			G	7579472	-	G	7579471	7	5	284	1	0	1	1	0	0	0	0	0	16378	1103	39	0	1086	0	TP53	17	7579471	Frame_Shift_Ins	INS	-	TCGA-HU-A4HD-01A-11D-A25D-08	1	7579471	73615739	161	146879	782	2									
NOS2	4843	broad.mit.edu	37	chr17	26096028	26096028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttgcacggcccagctgCggaaggcgtcctcctgccca	13	15	0	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:26096028C>T	uc002gzu.2	-	17	2273	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H	NOS2_uc010wab.1_Missense_Mutation_p.R635H	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	670	Flavodoxin-like.				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			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGCCCAGCTGCGGAAGGCGTC	0.602													T	26096028	C	T	26096028	3	4	284	1	0	0	0	0	1	0	0	0	10543	768	27	1	1496	1	NOS2	17	26096028	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	18516557	26096028	55099182	162	146880											
FOXN1	8456	broad.mit.edu	37	chr17	26862160	26862160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccctgctgccagatggagAccttggcactgacctggatg	12	13	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:26862160A>G	uc010crm.2	+	8	1769	c.1571A>G	c.(1570-1572)GAC>GGC	p.D524G	FOXN1_uc002hbj.2_Missense_Mutation_p.D524G	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	524					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			skin(1)	1	Lung NSC(42;0.00431)					CCAGATGGAGACCTTGGCACT	0.622													G	26862160	A	G	26862160	3	3	284	1	0	0	0	0	1	0	0	0	6019	275	10	3	1597	3	FOXN1	17	26862160	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	766132	26862160	54333050	163	146881											
SUPT6H	6830	broad.mit.edu	37	chr17	27013704	27013704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgattgaagatgtgaagcGcattgtacatgagctggacc	13	6	0	5			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:27013704G>A	uc002hby.2	+	21	2687	c.2597G>A	c.(2596-2598)CGC>CAC	p.R866H	SUPT6H_uc010crt.2_Missense_Mutation_p.R866H|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	866					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GATGTGAAGCGCATTGTACAT	0.488													A	27013704	G	A	27013704	3	1	284	1	0	0	0	0	1	0	0	0	15397	1087	38	1	2675	1	SUPT6H	17	27013704	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	151544	27013704	54181506	164	146882											
KRT27	342574	broad.mit.edu	37	chr17	38937500	38937500	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggacaacatgggcaTtactggtagttgcagaaatt	11	6	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:38937500T>A	uc002hvg.2	-	2	508	c.467A>T	c.(466-468)AAT>ATT	p.N156I		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	156	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				AACATGGGCATTACTGGTAGT	0.323													A	38937500	T	A	38937500	3	1	284	1	0	0	0	0	1	0	0	0	8464	1493	52	5	940	5	KRT27	17	38937500	Missense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	11923796	38937500	42257710	165	146883											
MPP3	4356	broad.mit.edu	37	chr17	41907404	41907404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgactaccctcaggtgCggggtggacagcagctggag	17	9	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:41907404C>T	uc002iei.3	-	6	460	c.294G>A	c.(292-294)CCG>CCA	p.P98P	MPP3_uc002ieh.2_Silent_p.P123P|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.P98P|MPP3_uc010wik.1_Silent_p.P123P|MPP3_uc010czj.1_Silent_p.P98P	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	98	L27 2.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CCCTCAGGTGCGGGGTGGACA	0.632													T	41907404	C	T	41907404	2	4	284	1	0	0	0	0	0	0	0	1	9735	755	27	1		1	MPP3	17	41907404	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	2969904	41907404	39287806	166	146884											
GFAP	2670	broad.mit.edu	37	chr17	42992741	42992741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggggcattcgagccagGgagaggcgggtgccaggacc	21	9	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:42992741G>A	uc002ihq.2	-	1	174	c.114C>T	c.(112-114)TCC>TCT	p.S38S	GFAP_uc002ihr.2_Silent_p.S38S|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	38	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				TTCGAGCCAGGGAGAGGCGGG	0.692													A	42992741	G	A	42992741	2	1	284	1	0	0	0	0	0	0	0	1	6337	1219	43	4		4	GFAP	17	42992741	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	1085337	42992741	38202469	167	146885											
CACNA1G	8913	broad.mit.edu	37	chr17	48680463	48680463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgttggtgctcatctccGtcatcgacattctggtgtcc	11	12	4	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:48680463G>A	uc002irk.1	+	21	4444	c.4072G>A	c.(4072-4074)GTC>ATC	p.V1358I	CACNA1G_uc002iri.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irj.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irl.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irm.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irn.1_Missense_Mutation_p.V1335I|CACNA1G_uc002iro.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irp.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irq.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irr.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irs.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irt.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irv.1_Missense_Mutation_p.V1358I|CACNA1G_uc002irw.1_Missense_Mutation_p.V1335I|CACNA1G_uc002iru.1_Missense_Mutation_p.V1335I|CACNA1G_uc002irx.1_Missense_Mutation_p.V1271I|CACNA1G_uc002iry.1_Missense_Mutation_p.V1271I|CACNA1G_uc002irz.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isa.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isb.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isc.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isd.1_Missense_Mutation_p.V1271I|CACNA1G_uc002ise.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isf.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isg.1_Missense_Mutation_p.V1271I|CACNA1G_uc002ish.1_Missense_Mutation_p.V1271I|CACNA1G_uc002isi.1_Missense_Mutation_p.V1248I|CACNA1G_uc002isj.2_Missense_Mutation_p.V82I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1358	III.|Helical; Name=S3 of repeat III; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	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)	GCTCATCTCCGTCATCGACAT	0.657													A	48680463	G	A	48680463	3	1	284	1	0	0	0	0	1	0	0	0	2544	1145	40	1	4154	1	CACNA1G	17	48680463	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	5687722	48680463	32514747	168	146886											
CA10	56934	broad.mit.edu	37	chr17	50008434	50008434	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctatgttgactggcgactgCcgtttccccacagagcaaag	10	12	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:50008434C>A	uc002itw.3	-	3	1181	c.195G>T	c.(193-195)CGG>CGT	p.R65R	CA10_uc002itv.3_Silent_p.R71R|CA10_uc002itx.3_Silent_p.R65R|CA10_uc002ity.3_Silent_p.R65R|CA10_uc002itz.2_Silent_p.R65R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	65					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTGGCGACTGCCGTTTCCCCA	0.478													A	50008434	C	A	50008434	2	1	284	1	0	0	0	0	0	0	0	1	2511	726	26	5		5	CA10	17	50008434	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	1327971	50008434	31186776	169	146887											
APOH	350	broad.mit.edu	37	chr17	64216736	64216736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaattgtatcatttccaaaCatcgcatgttgtggcaaaca	7	8	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:64216736C>T	uc002jfn.3	-	5	599	c.540G>A	c.(538-540)ATG>ATA	p.M180I		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	180	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CATTTCCAAACATCGCATGTT	0.418													T	64216736	C	T	64216736	3	4	284	1	0	0	0	0	1	0	0	0	804	478	17	4	513	4	APOH	17	64216736	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	14208302	64216736	16978474	170	146888											
TBC1D16	125058	broad.mit.edu	37	chr17	77924239	77924239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtactcctcctccacctGgcccagctcattcaggtggt	8	16	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr17:77924239G>A	uc002jxj.2	-	6	1344	c.1228C>T	c.(1228-1230)CAG>TAG	p.Q410*	TBC1D16_uc002jxh.2_Nonsense_Mutation_p.Q48*|TBC1D16_uc002jxi.2_Nonsense_Mutation_p.Q49*|TBC1D16_uc002jxk.1_Nonsense_Mutation_p.Q48*	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	410						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCTCCACCTGGCCCAGCTCA	0.697													A	77924239	G	A	77924239	4	1	284	1	0	0	0	0	0	1	0	0	15602	1357	47	4	1103	4	TBC1D16	17	77924239	Nonsense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	13707503	77924239	3270971	171	146889											
LRRC30	339291	broad.mit.edu	37	chr18	7231239	7231239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgtgggacgatgccctgCtctcgggaagggacccgcgg	16	14	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr18:7231239C>T	uc010wzk.1	+	1	103	c.103C>T	c.(103-105)CTC>TTC	p.L35F		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	35										ovary(1)|liver(1)	2						CGATGCCCTGCTCTCGGGAAG	0.622													T	7231239	C	T	7231239	3	4	284	1	0	0	0	0	1	0	0	0	8985	797	28	2	105	2	LRRC30	18	7231239	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		7231239	70846009	172	146890											
TCEB3B	51224	broad.mit.edu	37	chr18	44560303	44560303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccggcggaatcagcgcCggccgcctgcagcctctctg	14	18	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr18:44560303C>T	uc002lcr.1	-	1	1686	c.1333G>A	c.(1333-1335)GGC>AGC	p.G445S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	445					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GAATCAGCGCCGGCCGCCTGC	0.592													T	44560303	C	T	44560303	3	4	284	1	0	0	0	0	1	0	0	0	15679	652	23	1	932	1	TCEB3B	18	44560303	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	37329064	44560303	33516945	173	146891											
ZCCHC2	54877	broad.mit.edu	37	chr18	60243811	60243811	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacgttggattctgcagactGaaacgagtaaagcttgccta	10	8	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr18:60243811G>T	uc002lip.3	+	14	3536	c.3536G>T	c.(3535-3537)TGA>TTA	p.*1179L	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Nonstop_Mutation_p.*649L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1179					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						TCTGCAGACTGAAACGAGTAA	0.453													T	60243811	G	T	60243811	4	4	284	1	0	0	0	0	0	0	0	0	17584	1285	45	5	3590	5	ZCCHC2	18	60243811	Nonstop_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	15683508	60243811	17833437	174	146892											
MYO1F	4542	broad.mit.edu	37	chr19	8609309	8609309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtggcgtgcatggtggCgcacacgtcgtccaagacgc	15	14	0	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:8609309C>T	uc002mkg.2	-	14	1510	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	466	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TGCATGGTGGCGCACACGTCG	0.682													T	8609309	C	T	8609309	3	4	284	1	0	0	0	0	1	0	0	0	10073	768	27	1	1960	1	MYO1F	19	8609309	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08		8609309	50519674	175	146893											
MUC16	94025	broad.mit.edu	37	chr19	9046692	9046692	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggagaaggagtcaaagttgGaatagctgtactagtgtctg	14	4	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:9046692G>C	uc002mkp.2	-	5	35143	c.34939C>G	c.(34939-34941)CCA>GCA	p.P11647A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11649	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCAAAGTTGGAATAGCTGTA	0.517													C	9046692	G	C	9046692	3	2	284	1	0	0	0	0	1	0	0	0	9973	1174	41	5	8904	5	MUC16	19	9046692	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	437383	9046692	50082291	176	146894											
RGS9BP	388531	broad.mit.edu	37	chr19	33167228	33167228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacaagacgactgcgtgctAccaccacctggtgctgaccg	10	15	0	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:33167228A>C	uc002ntp.1	+	1	916	c.59A>C	c.(58-60)TAC>TCC	p.Y20S	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	RGS9 anchor protein	20	Cytoplasmic (Potential).				negative regulation of signal transduction	integral to membrane				central_nervous_system(1)	1	Esophageal squamous(110;0.137)					ACTGCGTGCTACCACCACCTG	0.602													C	33167228	A	C	33167228	3	2	284	1	0	0	0	0	1	0	0	0	13314	391	14	5	61	5	RGS9BP	19	33167228	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	24120536	33167228	25961755	177	146895											
ZNF30	90075	broad.mit.edu	37	chr19	35434618	35434618	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatatggaaagcttacccggCatcagagtactcacactggt	9	10	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:35434618C>G	uc010edp.1	+	5	1126	c.748C>G	c.(748-750)CAT>GAT	p.H250D	ZNF30_uc002nxf.2_Missense_Mutation_p.H169D|ZNF30_uc010edq.1_Missense_Mutation_p.H251D|ZNF30_uc010edr.1_Missense_Mutation_p.H251D	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	250	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)		GCTTACCCGGCATCAGAGTAC	0.438													G	35434618	C	G	35434618	3	3	284	1	0	0	0	0	1	0	0	0	17827	710	25	5	765	5	ZNF30	19	35434618	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	2267390	35434618	23694365	178	146896											
ZNF829	374899	broad.mit.edu	37	chr19	37399305	37399305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctgatcagcgtccagGcattcccattcctcttgaga	7	13	4	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:37399305G>A	uc002ofa.1	-	4	515	c.153C>T	c.(151-153)TGC>TGT	p.C51C	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Silent_p.C51C	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCGTCCAGGCATTCCCATT	0.413													A	37399305	G	A	37399305	2	1	284	1	0	0	0	0	0	0	0	1	18179	1195	42	2		2	ZNF829	19	37399305	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	1964687	37399305	21729678	179	146897											
ZNF569	148266	broad.mit.edu	37	chr19	37904953	37904953	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaattctcagatgtcTgatgaggtccaaagtctgat	10	6	3	5			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:37904953T>A	uc002ogi.2	-	6	1165	c.607A>T	c.(607-609)AGA>TGA	p.R203*	ZNF569_uc002ogh.2_Nonsense_Mutation_p.R44*|ZNF569_uc002ogj.2_Nonsense_Mutation_p.R227*	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	203	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAGATGTCTGATGAGGTCC	0.358													A	37904953	T	A	37904953	4	1	284	1	0	0	0	0	0	1	0	0	17997	1588	55	5	1457	5	ZNF569	19	37904953	Nonsense_Mutation	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	505648	37904953	21224030	180	146898											
ZNF229	7772	broad.mit.edu	37	chr19	44933411	44933411	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacgttacatttgtacagAtgctgccccatgtgaactct	7	12	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:44933411A>C	uc002oze.1	-	6	1979	c.1545T>G	c.(1543-1545)CAT>CAG	p.H515Q	ZNF229_uc010ejk.1_Missense_Mutation_p.H169Q|ZNF229_uc010ejl.1_Missense_Mutation_p.H509Q	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				ATTTGTACAGATGCTGCCCCA	0.502													C	44933411	A	C	44933411	3	2	284	1	0	0	0	0	1	0	0	0	17779	330	12	5	936	5	ZNF229	19	44933411	Missense_Mutation	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	7028458	44933411	14195572	181	146899											
AP2A1	160	broad.mit.edu	37	chr19	50308972	50308972	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcccagtgaccatcaacaaGttcttccagcccaccgagat	6	16	2	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:50308972G>C	uc002ppn.2	+	21	2800	c.2589G>C	c.(2587-2589)AAG>AAC	p.K863N	AP2A1_uc002ppo.2_Missense_Mutation_p.K841N|AP2A1_uc010enk.2_Intron	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	863					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			ovary(2)	2		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)		CCATCAACAAGTTCTTCCAGC	0.662													C	50308972	G	C	50308972	3	2	284	1	0	0	0	0	1	0	0	0	739	1020	36	5	2671	5	AP2A1	19	50308972	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	5375561	50308972	8820011	182	146900											
AP2A1	160	broad.mit.edu	37	chr19	50309020	50309020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggatttcttccagcgctgGaagcagctgagcctgtgagg	14	10	1	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:50309020G>A	uc002ppn.2	+	21	2848	c.2637G>A	c.(2635-2637)TGG>TGA	p.W879*	AP2A1_uc002ppo.2_Nonsense_Mutation_p.W857*|AP2A1_uc010enk.2_Nonsense_Mutation_p.W10*	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	879					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			ovary(2)	2		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)		TCCAGCGCTGGAAGCAGCTGA	0.677													A	50309020	G	A	50309020	4	1	284	1	0	0	0	0	0	1	0	0	739	1183	41	4	2719	4	AP2A1	19	50309020	Nonsense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	48	50309020	8819963	183	146901											
SIGLEC11	114132	broad.mit.edu	37	chr19	50464021	50464021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttagtggccacaggagcaCccgtctttgggctggtccgt	14	11	1	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:50464021C>A	uc010ybh.1	-	2	339	c.248G>T	c.(247-249)GGT>GTT	p.G83V	SIGLEC11_uc010ybi.1_Missense_Mutation_p.G83V	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	83	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		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)		CACAGGAGCACCCGTCTTTGG	0.592													A	50464021	C	A	50464021	3	1	284	1	0	0	0	0	1	0	0	0	14307	507	18	5	1888	5	SIGLEC11	19	50464021	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	155001	50464021	8664962	184	146902											
KLK12	43849	broad.mit.edu	37	chr19	51532580	51532580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgttcctcatgatcatcCggatccagtccacatacttg	7	12	2	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:51532580C>T	uc002pvg.1	-	5	845	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	KLK11_uc002pvd.1_5'Flank|KLK11_uc002pve.1_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK11_uc002pvc.3_5'Flank|KLK11_uc010eom.2_5'Flank|KLK12_uc010ycp.1_Intron|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Missense_Mutation_p.R132Q|KLK12_uc010ycs.1_Missense_Mutation_p.R132Q|KLK12_uc002pvh.1_Intron|KLK12_uc002pvi.1_Missense_Mutation_p.R242Q|KLK12_uc002pvj.1_3'UTR	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	242	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CATGATCATCCGGATCCAGTC	0.552													T	51532580	C	T	51532580	3	4	284	1	0	0	0	0	1	0	0	0	8400	652	23	1	87	1	KLK12	19	51532580	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	1068559	51532580	7596403	185	146903											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565264	58565264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccggagcaagggccccCgggagtccgtcccacccagg	13	20	0	0	rs144536843	byFrequency	TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr19:58565264C>T	uc002qrc.1	+	6	1319	c.1072C>T	c.(1072-1074)CGG>TGG	p.R358W		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	358					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAAGGGCCCCCGGGAGTCCGT	0.662													T	58565264	C	T	58565264	3	4	284	1	0	0	0	0	1	0	0	0	18223	643	23	1	1086	1	ZSCAN1	19	58565264	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	7032684	58565264	563719	186	146904											
FERMT1	55612	broad.mit.edu	37	chr20	6060153	6060153	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtcactggaatcccgGtggctgcatcaattttaatc	9	9	2	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr20:6060153G>C	uc002wmr.2	-	14	2579	c.1790C>G	c.(1789-1791)ACC>AGC	p.T597S	FERMT1_uc002wmq.2_Missense_Mutation_p.T150S|FERMT1_uc010gbt.2_Missense_Mutation_p.T340S	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	597	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						TGGAATCCCGGTGGCTGCATC	0.363													C	6060153	G	C	6060153	3	2	284	1	0	0	0	0	1	0	0	0	5817	1261	44	5	251	5	FERMT1	20	6060153	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		6060153	56965367	187	146905											
C20orf106	200232	broad.mit.edu	37	chr20	55100090	55100090	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgtttgtgatactgcagtgtCaaagagacagtgagaagaat	12	5	1	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr20:55100090C>G	uc002xxx.2	+	1	306	c.226C>G	c.(226-228)CAA>GAA	p.Q76E	GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Missense_Mutation_p.Q76E	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	76	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			ACTGCAGTGTCAAAGAGACAG	0.453													G	55100090	C	G	55100090	3	3	284	1	0	0	0	0	1	0	0	0	2076	827	29	5	228	5	C20orf106	20	55100090	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	49039937	55100090	7925430	188	146906											
DIDO1	11083	broad.mit.edu	37	chr20	61512061	61512061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcccgctgaccctgaaaCgggggctgagagccccccac	13	16	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr20:61512061C>T	uc002ydr.1	-	16	5511	c.5247G>A	c.(5245-5247)CCG>CCA	p.P1749P	DIDO1_uc002yds.1_Silent_p.P1749P	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1749	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GACCCTGAAACGGGGGCTGAG	0.672													T	61512061	C	T	61512061	2	4	284	1	0	0	0	0	0	0	0	1	4522	523	19	1		1	DIDO1	20	61512061	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	6411971	61512061	1513459	189	146907											
PCMTD2	55251	broad.mit.edu	37	chr20	62904872	62904872	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaaagccagaccccccagtGaacttcctacgccagaaggt	8	15	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr20:62904872G>A	uc002yil.3	+	6	1205	c.1005G>A	c.(1003-1005)GTG>GTA	p.V335V	PCMTD2_uc002yim.3_Silent_p.V308V	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	335						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCCCCCAGTGAACTTCCTAC	0.502													A	62904872	G	A	62904872	2	1	284	1	0	0	0	0	0	0	0	1	11587	1277	45	4		4	PCMTD2	20	62904872	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	1392811	62904872	120648	190	146908											
LIPI	149998	broad.mit.edu	37	chr21	15579146	15579146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagattacctgatctcagGcacacaactagaagccacag	8	11	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr21:15579146G>A	uc002yjm.2	-	1	109	c.99C>T	c.(97-99)TGC>TGT	p.C33C		NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	11					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ctgatctcaggcacacaacta	0.229													A	15579146	G	A	15579146	2	1	284	1	0	0	0	0	0	0	0	1	8825	1195	42	2		2	LIPI	21	15579146	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		15579146	32550749	191	146909											
ITSN1	6453	broad.mit.edu	37	chr21	35166671	35166671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaatacacaataagcaAcaactccagaagcaaaagtc	6	9	0	2			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr21:35166671A>G	uc002yta.1	+	17	2119	c.1851A>G	c.(1849-1851)CAA>CAG	p.Q617Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.Q617Q|ITSN1_uc010gmg.2_Silent_p.Q580Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.Q617Q|ITSN1_uc010gmi.2_Silent_p.Q580Q|ITSN1_uc010gmj.2_Silent_p.Q501Q|ITSN1_uc002ysy.2_Silent_p.Q617Q|ITSN1_uc002ysx.2_Silent_p.Q580Q|ITSN1_uc002ytb.1_Silent_p.Q617Q|ITSN1_uc002ytc.1_Silent_p.Q617Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.Q580Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.Q617Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.Q551Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	617	Potential.|KLERQ.				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			ovary(3)|skin(1)	4						ACAATAAGCAACAACTCCAGA	0.368													G	35166671	A	G	35166671	2	3	284	1	0	0	0	0	0	0	0	1	7926	40	2	3		3	ITSN1	21	35166671	Silent	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	19587525	35166671	12963224	192	146910											
HLCS	3141	broad.mit.edu	37	chr21	38128931	38128931	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtttctccagcacagtcaCgactctggcgatgagataat	9	11	3	1	rs150665851	byFrequency	TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr21:38128931C>G	uc010gnb.2	-	10	3122	c.1921G>C	c.(1921-1923)GTG>CTG	p.V641L	HLCS_uc002yvs.2_Missense_Mutation_p.V641L	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	641					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			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGCACAGTCACGACTCTGGCG	0.488													G	38128931	C	G	38128931	3	3	284	1	0	0	0	0	1	0	0	0	7213	536	19	5	267	5	HLCS	21	38128931	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	2962260	38128931	10000964	193	146911											
BCR	613	broad.mit.edu	37	chr22	23630318	23630318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctctgactatgagcGtgcagagtggagggagaaca	14	8	2	4			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr22:23630318G>A	uc002zww.2	+	12	3157	c.2561G>A	c.(2560-2562)CGT>CAT	p.R854H	BCR_uc002zwx.2_Missense_Mutation_p.R854H|BCR_uc011aiy.1_Missense_Mutation_p.R443H|BCR_uc002zwy.1_Missense_Mutation_p.R140H	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	854	PH.				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)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GACTATGAGCGTGCAGAGTGG	0.567			T	ABL1| FGFR1|JAK2 	CML|ALL|AML								A	23630318	G	A	23630318	3	1	284	1	0	0	0	0	1	0	0	0	1388	1145	40	1	2607	1	BCR	22	23630318	Missense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		23630318	27674248	194	146912											
ELFN2	114794	broad.mit.edu	37	chr22	37769709	37769709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcttgcgggtcacggcCgcgtcggcgctcagctggcg	17	14	3	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr22:37769709C>T	uc003asq.3	-	3	2652	c.1866G>A	c.(1864-1866)GCG>GCA	p.A622A		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	622	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GGGTCACGGCCGCGTCGGCGC	0.687													T	37769709	C	T	37769709	2	4	284	1	0	0	0	0	0	0	0	1	5058	639	23	1		1	ELFN2	22	37769709	Silent	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	14139391	37769709	13534857	195	146913											
TRIOBP	11078	broad.mit.edu	37	chr22	38130551	38130551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacatcagccaggacccCtgagagggagctgcggacac	14	13	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr22:38130551C>T	uc003atr.2	+	9	4479	c.4208C>T	c.(4207-4209)CCT>CTT	p.P1403L	TRIOBP_uc003atu.2_Missense_Mutation_p.P1231L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1403					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)	1	Melanoma(58;0.0574)					GCCAGGACCCCTGAGAGGGAG	0.657													T	38130551	C	T	38130551	3	4	284	1	0	0	0	0	1	0	0	0	16550	681	24	4	4234	4	TRIOBP	22	38130551	Missense_Mutation	SNP	C	TCGA-HU-A4HD-01A-11D-A25D-08	360842	38130551	13174015	196	146914											
SHANK3	85358	broad.mit.edu	37	chr22	51159690	51159690	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccgccccggacccctgttTgtggatgtacaggcccggga	14	14	0	0			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chr22:51159690T>C	uc003bne.1	+	22	3477	c.3477T>C	c.(3475-3477)TTT>TTC	p.F1159F	SHANK3_uc003bnf.1_Silent_p.F606F|SHANK3_uc010hbg.1_Silent_p.F341F	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1159										central_nervous_system(1)	1		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)		GACCCCTGTTTGTGGATGTAC	0.716													C	51159690	T	C	51159690	2	2	284	1	0	0	0	0	0	0	0	1	14266	1809	63	3		3	SHANK3	22	51159690	Silent	SNP	T	TCGA-HU-A4HD-01A-11D-A25D-08	13029139	51159690	144876	197	146915											
ARHGAP6	395	broad.mit.edu	37	chrX	11162141	11162141	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaactttcccttgactttGacgacgacaagtggcccacc	9	13	0	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chrX:11162141G>C	uc004cup.1	-	11	3008	c.2135C>G	c.(2134-2136)TCA>TGA	p.S712*	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Nonsense_Mutation_p.S712*|ARHGAP6_uc004cum.1_Nonsense_Mutation_p.S509*|ARHGAP6_uc004cun.1_Nonsense_Mutation_p.S532*|ARHGAP6_uc010neb.1_Nonsense_Mutation_p.S534*|ARHGAP6_uc011mif.1_3'UTR	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	712					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			urinary_tract(1)|lung(1)	2						CCTTGACTTTGACGACGACAA	0.597											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	11162141	G	C	11162141	4	2	284	1	0	0	0	0	0	1	0	0	887	1294	45	5	923	5	ARHGAP6	23	11162141	Nonsense_Mutation	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08		11162141	144108419	198	146916											
MAGEH1	28986	broad.mit.edu	37	chrX	55478927	55478927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctatggccgcctctgtggtAgcgagcacccccgaagacga	12	15	1	1			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chrX:55478927A>G	uc004dum.2	+	1	390	c.120A>G	c.(118-120)GTA>GTG	p.V40V		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	40	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CCTCTGTGGTAGCGAGCACCC	0.647													G	55478927	A	G	55478927	2	3	284	1	0	0	0	0	0	0	0	1	9188	407	15	3		3	MAGEH1	23	55478927	Silent	SNP	A	TCGA-HU-A4HD-01A-11D-A25D-08	44316786	55478927	99791633	199	146917											
GABRA3	2556	broad.mit.edu	37	chrX	151514087	151514087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagccggttgtcatagccGtccagaagacgatccaagat	11	12	1	3			TCGA-HU-A4HD-01A-11D-A25D-08	TCGA-HU-A4HD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8304b367-d009-4a3f-ac16-2e203bafc9fd	4d53618f-7d90-47bf-ac32-ff6714f4a60c	g.chrX:151514087G>A	uc010ntk.1	-	3	468	c.228C>T	c.(226-228)GAC>GAT	p.D76D		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	76	Extracellular (Probable).				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			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTCATAGCCGTCCAGAAGAC	0.468													A	151514087	G	A	151514087	2	1	284	1	0	0	0	0	0	0	0	1	6162	1136	40	1		1	GABRA3	23	151514087	Silent	SNP	G	TCGA-HU-A4HD-01A-11D-A25D-08	96035160	151514087	3756473	200	146918											
PRAMEF17	391004	broad.mit.edu	37	chr1	13716908	13716908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggccatgagtaagaGgcagacagtggaggactatc	14	9	0	4			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:13716908G>A	uc009vnz.1	+	2	425	c.395G>A	c.(394-396)AGG>AAG	p.R132K		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	PRAME family member 17	132											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGTAAGAGGCAGACAGTG	0.527													A	13716908	G	A	13716908	3	1	285	1	0	0	0	0	1	0	0	0	12432	1000	35	4	401	4	PRAMEF17	1	13716908	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08		13716908	235533713	1	146919											
TBX15	6913	broad.mit.edu	37	chr1	119427517	119427517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctctccaaaggccccGttggaaggagaagaacagag	12	11	1	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:119427517G>A	uc001ehl.1	-	8	1644	c.1329C>T	c.(1327-1329)AAC>AAT	p.N443N	TBX15_uc009whj.1_Silent_p.N267N	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	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)		CAAAGGCCCCGTTGGAAGGAG	0.522													A	119427517	G	A	119427517	2	1	285	1	0	0	0	0	0	0	0	1	15649	1136	40	1		1	TBX15	1	119427517	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	105710609	119427517	129823104	2	146920											
SMG5	23381	broad.mit.edu	37	chr1	156222291	156222291	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagcaaatccaggccatcGatcactggtgggcaaggtag	12	10	2	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:156222291G>A	uc001foc.3	-	19	2816	c.2667C>T	c.(2665-2667)ATC>ATT	p.I889I	SMG5_uc009wrv.2_Intron	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	889	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					CCAGGCCATCGATCACTGGTG	0.527													A	156222291	G	A	156222291	2	1	285	1	0	0	0	0	0	0	0	1	14796	1048	37	1		1	SMG5	1	156222291	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	36794774	156222291	93028330	3	146921											
CFHR3	10878	broad.mit.edu	37	chr1	196748348	196748348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatttcatgagaatatgCgtagaccatactttccagta	7	8	2	2	rs143890724		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:196748348C>T	uc001gtl.2	+	2	202	c.115C>T	c.(115-117)CGT>TGT	p.R39C	CFHR3_uc001gtk.2_Missense_Mutation_p.R39C|CFHR3_uc010poy.1_Missense_Mutation_p.R39C|CFHR1_uc001gtm.2_Missense_Mutation_p.R2C	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	39	Sushi 1.					extracellular space					0						TGAGAATATGCGTAGACCATA	0.323													T	196748348	C	T	196748348	3	4	285	1	0	0	0	0	1	0	0	0	3286	768	27	1	121	1	CFHR3	1	196748348	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	40526057	196748348	52502273	4	146922											
IKBKE	9641	broad.mit.edu	37	chr1	206650166	206650166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctttggtgggccacggcGgaacaaggagatcatgtacg	14	11	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:206650166G>A	uc001hdz.1	+	7	1054	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	IKBKE_uc009xbu.1_Missense_Mutation_p.R229Q|IKBKE_uc009xbv.1_Missense_Mutation_p.R229Q|IKBKE_uc001hea.1_Missense_Mutation_p.R144Q	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	229	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			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					GGGCCACGGCGGAACAAGGAG	0.622													A	206650166	G	A	206650166	3	1	285	1	0	0	0	0	1	0	0	0	7612	1116	39	1	704	1	IKBKE	1	206650166	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	9901818	206650166	42600455	5	146923											
RYR2	6262	broad.mit.edu	37	chr1	237729908	237729908	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaccggggaaaggttcCgaatcttccgtgccgagaag	15	11	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:237729908C>T	uc001hyl.1	+	28	3376	c.3256C>T	c.(3256-3258)CGA>TGA	p.R1086*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1086	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			GGAAAGGTTCCGAATCTTCCG	0.542													T	237729908	C	T	237729908	4	4	285	1	0	0	0	0	0	1	0	0	13769	644	23	1	3366	1	RYR2	1	237729908	Nonsense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	31079742	237729908	11520713	6	146924											
RYR2	6262	broad.mit.edu	37	chr1	237794733	237794733	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attgtcctttctagggatatTatgaataacaaagtgtttta	7	4	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr1:237794733T>A	uc001hyl.1	+	42	6567	c.6447T>A	c.(6445-6447)ATT>ATA	p.I2149I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2149	Cytoplasmic (By similarity).|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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			CTAGGGATATTATGAATAACA	0.418													A	237794733	T	A	237794733	2	1	285	1	0	0	0	0	0	0	0	1	13769	1742	61	5		5	RYR2	1	237794733	Silent	SNP	T	TCGA-IN-7806-01A-11D-2053-08	64825	237794733	11455888	7	146925											
PXDN	7837	broad.mit.edu	37	chr2	1670198	1670198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcgctgcactccagcGtgacgctctccccaaccagc	10	18	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:1670198G>A	uc002qxa.2	-	10	1143	c.1079C>T	c.(1078-1080)ACG>ATG	p.T360M	PXDN_uc002qxb.1_Missense_Mutation_p.T360M|PXDN_uc002qxc.1_Missense_Mutation_p.T177M	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	360	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	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)		GCACTCCAGCGTGACGCTCTC	0.572													A	1670198	G	A	1670198	3	1	285	1	0	0	0	0	1	0	0	0	12847	1145	40	1	3416	1	PXDN	2	1670198	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08		1670198	241529175	8	146926											
MSH6	2956	broad.mit.edu	37	chr2	48025978	48025978	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagtggagtgggggatagtGagagtgaaggcctgaacagc	19	5	0	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:48025978G>A	uc002rwd.3	+	4	1008	c.856G>A	c.(856-858)GAG>AAG	p.E286K	MSH6_uc002rwc.2_Missense_Mutation_p.E286K|MSH6_uc010fbj.2_5'UTR|MSH6_uc010yoi.1_Missense_Mutation_p.E156K|MSH6_uc010yoj.1_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	286					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			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGGGGATAGTGAGAGTGAAGG	0.468			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				A	48025978	G	A	48025978	3	1	285	1	0	0	0	0	1	0	0	0	9874	1291	45	4	870	4	MSH6	2	48025978	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	46355780	48025978	195173395	9	146927											
C2orf42	54980	broad.mit.edu	37	chr2	70392720	70392720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatattctttgttgcagggCatcaaaaaatgactgaggaa	10	5	2	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:70392720C>T	uc002sgh.2	-	7	1520	c.1192G>A	c.(1192-1194)GCC>ACC	p.A398T		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	398											0						TGTTGCAGGGCATCAAAAAAT	0.418													T	70392720	C	T	70392720	3	4	285	1	0	0	0	0	1	0	0	0	2166	710	25	2	548	2	C2orf42	2	70392720	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	22366742	70392720	172806653	10	146928											
SLC35F5	80255	broad.mit.edu	37	chr2	114513058	114513058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagagcccttctgagatccTcaagagcaatgccggaaaac	9	11	2	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:114513058T>C	uc002tku.1	-	2	528	c.104A>G	c.(103-105)GAG>GGG	p.E35G	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.E29G|SLC35F5_uc002tkw.2_Missense_Mutation_p.E35G	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	35					transport	integral to membrane					0						TCTGAGATCCTCAAGAGCAAT	0.393													C	114513058	T	C	114513058	3	2	285	1	0	0	0	0	1	0	0	0	14592	1551	54	3	1523	3	SLC35F5	2	114513058	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	44120338	114513058	128686315	11	146929											
LRP2	4036	broad.mit.edu	37	chr2	170099465	170099465	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggtatgtgttacttaCgacagcctgcttcatccgag	10	10	2	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:170099465C>T	uc002ues.2	-	24	3880	c.3667_splice	c.e24+1	p.P1223_splice	LRP2_uc010zdf.1_Splice_Site_p.P1086_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	GTGTTACTTACGACAGCCTGC	0.408													T	170099465	C	T	170099465	5	4	285	1	0	0	0	0	0	0	1	0	8956	550	19	1	10523	1	LRP2	2	170099465	Splice_Site	SNP	C	TCGA-IN-7806-01A-11D-2053-08	55586407	170099465	73099908	12	146930											
TTN	7273	broad.mit.edu	37	chr2	179549695	179549695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactttcttttctggcacaAttttcttaggtgcttcagga	8	8	4	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:179549695A>G	uc010zfg.1	-	127	28984	c.28760T>C	c.(28759-28761)ATT>ACT	p.I9587T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I6248T|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10514							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGGCACAATTTTCTTAGG	0.368													G	179549695	A	G	179549695	3	3	285	1	0	0	0	0	1	0	0	0	16732	101	4	3	71969	3	TTN	2	179549695	Missense_Mutation	SNP	A	TCGA-IN-7806-01A-11D-2053-08	9450230	179549695	63649678	13	146931											
COL5A2	1290	broad.mit.edu	37	chr2	189933586	189933586	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaccttcagggcctcGcgcccctgtaggacctgctt	12	15	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:189933586G>A	uc002uqk.2	-	19	1458	c.1183C>T	c.(1183-1185)CGA>TGA	p.R395*	COL5A2_uc010frx.2_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	395					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCAGGGCCTCGCGCCCCTGTA	0.493													A	189933586	G	A	189933586	4	1	285	1	0	0	0	0	0	1	0	0	3697	1095	38	1	3460	1	COL5A2	2	189933586	Nonsense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	10383891	189933586	53265787	14	146932											
MYO1B	4430	broad.mit.edu	37	chr2	192194740	192194740	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcattactggggaaagtGgagcaggaaaaacaggtaag	13	5	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:192194740G>T	uc010fsg.2	+	4	586	c.331G>T	c.(331-333)GGA>TGA	p.G111*	MYO1B_uc002usq.2_Nonsense_Mutation_p.G111*|MYO1B_uc002usr.2_Nonsense_Mutation_p.G111*|MYO1B_uc002uss.1_Nonsense_Mutation_p.G111*	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	111	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGGGGAAAGTGGAGCAGGAAA	0.468													T	192194740	G	T	192194740	4	4	285	1	0	0	0	0	0	1	0	0	10069	1349	47	5	341	5	MYO1B	2	192194740	Nonsense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	2261154	192194740	51004633	15	146933											
GLB1L	79411	broad.mit.edu	37	chr2	220104395	220104395	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagccagcctgtgtagtactCagagtttacctagagtgtga	11	9	1	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:220104395C>T	uc002vkm.2	-	9	1029	c.790G>A	c.(790-792)GAG>AAG	p.E264K	GLB1L_uc002vkk.2_Missense_Mutation_p.E21K|GLB1L_uc010zkx.1_Missense_Mutation_p.E174K|GLB1L_uc002vkn.2_Missense_Mutation_p.E264K	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like precursor	264		Nucleophile (Potential).			carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds				0		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTAGTACTCAGAGTTTACC	0.512													T	220104395	C	T	220104395	3	4	285	1	0	0	0	0	1	0	0	0	6428	835	29	4	1210	4	GLB1L	2	220104395	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	27909655	220104395	23094978	16	146934											
KIAA1486	57624	broad.mit.edu	37	chr2	226446838	226446838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagatgggcagccccgcGggagaccccgaggaagagga	16	13	0	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:226446838G>A	uc002voe.2	+	4	880	c.705G>A	c.(703-705)GCG>GCA	p.A235A	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.A5A	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	235										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GCAGCCCCGCGGGAGACCCCG	0.602													A	226446838	G	A	226446838	2	1	285	1	0	0	0	0	0	0	0	1	8237	1103	39	1		1	KIAA1486	2	226446838	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	6342443	226446838	16752535	17	146935											
PRR21	643905	broad.mit.edu	37	chr2	240981279	240981279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaacaagaagacaggtgTtgaaggtggccctggcagac	14	7	0	5			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr2:240981279T>C	uc010zod.1	-	1	1121	c.1121A>G	c.(1120-1122)AAC>AGC	p.N374S		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	374										ovary(1)|skin(1)	2						AAGACAGGTGTTGAAGGTGGC	0.458													C	240981279	T	C	240981279	3	2	285	1	0	0	0	0	1	0	0	0	12592	1725	60	3	51	3	PRR21	2	240981279	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	14534441	240981279	2218094	18	146936											
C3orf45	132228	broad.mit.edu	37	chr3	50324175	50324175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgggcgttttgccgccGtcactgtgtgcccaggctgg	15	13	1	0	rs146794860		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr3:50324175G>A	uc003cyz.2	+	3	270	c.243G>A	c.(241-243)CCG>CCA	p.P81P		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	81						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTTTGCCGCCGTCACTGTGTG	0.637													A	50324175	G	A	50324175	2	1	285	1	0	0	0	0	0	0	0	1	2231	1132	40	1		1	C3orf45	3	50324175	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08		50324175	147698255	19	146937											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107592	6107592	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctccttggtcttctcctCatgcagcttggccttgagct	9	14	3	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:6107592C>T	uc003giu.3	-	3	508	c.232G>A	c.(232-234)GAG>AAG	p.E78K	JAKMIP1_uc010idb.1_Missense_Mutation_p.E78K|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E78K|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.E78K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E78K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	78	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GTCTTCTCCTCATGCAGCTTG	0.677													T	6107592	C	T	6107592	3	4	285	1	0	0	0	0	1	0	0	0	7940	835	29	4	2414	4	JAKMIP1	4	6107592	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08		6107592	185046684	20	146938											
LIMCH1	22998	broad.mit.edu	37	chr4	41615625	41615625	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcctggattcctttggctCtcgctctcggcagacgcctt	10	15	2	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:41615625C>T	uc003gvu.3	+	7	683	c.629C>T	c.(628-630)TCT>TTT	p.S210F	LIMCH1_uc003gvt.1_Missense_Mutation_p.S51F|LIMCH1_uc003gvv.3_Missense_Mutation_p.S210F|LIMCH1_uc003gvw.3_Missense_Mutation_p.S210F|LIMCH1_uc003gvx.3_Missense_Mutation_p.S210F|LIMCH1_uc003gwe.3_Missense_Mutation_p.S210F|LIMCH1_uc003gvy.3_Missense_Mutation_p.S51F|LIMCH1_uc003gwa.3_Missense_Mutation_p.S51F|LIMCH1_uc003gvz.3_Missense_Mutation_p.S51F|LIMCH1_uc011byu.1_Missense_Mutation_p.S56F|LIMCH1_uc003gwc.3_Missense_Mutation_p.S56F|LIMCH1_uc003gwd.3_Missense_Mutation_p.S56F|LIMCH1_uc011byv.1_5'UTR|LIMCH1_uc003gwb.1_Missense_Mutation_p.S58F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	210					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TCCTTTGGCTCTCGCTCTCGG	0.527													T	41615625	C	T	41615625	3	4	285	1	0	0	0	0	1	0	0	0	8797	913	32	4	683	4	LIMCH1	4	41615625	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	35508033	41615625	149538651	21	146939											
PKD2	5311	broad.mit.edu	37	chr4	88995977	88995977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagcctggtgagacgaGtggaccggatggagcattcc	15	10	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:88995977G>A	uc003hre.2	+	14	2602	c.2536G>A	c.(2536-2538)GTG>ATG	p.V846M	PKD2_uc011cdf.1_Missense_Mutation_p.V264M|PKD2_uc011cdg.1_Missense_Mutation_p.V172M|PKD2_uc011cdh.1_Missense_Mutation_p.V69M	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	846	Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential).			V->E: Loss of protein solubility.		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			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGTGAGACGAGTGGACCGGAT	0.498													A	88995977	G	A	88995977	3	1	285	1	0	0	0	0	1	0	0	0	11966	1029	36	4	2590	4	PKD2	4	88995977	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	47380352	88995977	102158299	22	146940											
PDHA2	5161	broad.mit.edu	37	chr4	96761778	96761778	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtataccaagaacttctaTgggggcaatggcatcgtcgg	12	8	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:96761778T>A	uc003htr.3	+	1	540	c.477T>A	c.(475-477)TAT>TAA	p.Y159*		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	159					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGAACTTCTATGGGGGCAATG	0.493													A	96761778	T	A	96761778	4	1	285	1	0	0	0	0	0	1	0	0	11665	1471	51	5	479	5	PDHA2	4	96761778	Nonsense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	7765801	96761778	94392498	23	146941											
ANK2	287	broad.mit.edu	37	chr4	114257924	114257924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaaccttaagattactAtgcagcataacaggtgagtc	8	10	0	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:114257924A>G	uc003ibe.3	+	31	3883	c.3783A>G	c.(3781-3783)CTA>CTG	p.L1261L	ANK2_uc003ibd.3_Silent_p.L1252L|ANK2_uc003ibf.3_Silent_p.L1261L|ANK2_uc011cgc.1_Silent_p.L437L|ANK2_uc003ibg.3_Silent_p.L256L|ANK2_uc011cgb.1_Silent_p.L1276L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1228					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGATTACTATGCAGCATAA	0.373													G	114257924	A	G	114257924	2	3	285	1	0	0	0	0	0	0	0	1	621	436	16	3		3	ANK2	4	114257924	Silent	SNP	A	TCGA-IN-7806-01A-11D-2053-08	17496146	114257924	76896352	24	146942											
TMEM184C	55751	broad.mit.edu	37	chr4	148546061	148546061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggattccttaccaattatcTaactaaccggtatccaaatc	5	11	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:148546061T>A	uc003ila.3	+	4	967	c.398T>A	c.(397-399)CTA>CAA	p.L133Q		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	133						integral to membrane					0						ACCAATTATCTAACTAACCGG	0.388													A	148546061	T	A	148546061	3	1	285	1	0	0	0	0	1	0	0	0	16103	1522	53	5	412	5	TMEM184C	4	148546061	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	34288137	148546061	42608215	25	146943											
LRBA	987	broad.mit.edu	37	chr4	151388910	151388910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacccaaggaaacactggaTactgatttaagtcattataa	7	7	1	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr4:151388910T>C	uc010ipj.2	-	45	7202	c.6728A>G	c.(6727-6729)TAT>TGT	p.Y2243C	LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Missense_Mutation_p.Y133C|LRBA_uc003ilt.3_Missense_Mutation_p.Y891C|LRBA_uc003ilu.3_Missense_Mutation_p.Y2232C	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2243	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AAACACTGGATACTGATTTAA	0.323													C	151388910	T	C	151388910	3	2	285	1	0	0	0	0	1	0	0	0	8931	1406	49	3	1919	3	LRBA	4	151388910	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	2842849	151388910	39765366	26	146944											
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199398	26199398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacgcggcccacagggaacTggagtccggcccgcgaagag	16	13	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:26199398T>G	uc003ngw.2	-	1	74	c.74A>C	c.(73-75)CAG>CCG	p.Q25P	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	25					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)				CACAGGGAACTGGAGTCCGGC	0.617													G	26199398	T	G	26199398	3	3	285	1	0	0	0	0	1	0	0	0	7131	1580	55	5	322	5	HIST1H2AD	6	26199398	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08		26199398	144915669	27	146945											
VPS52	6293	broad.mit.edu	37	chr6	33232167	33232167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatagtggggccgagtaTccaacccccctaggcgctgg	12	14	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:33232167T>C	uc003odm.1	-	14	1718	c.1508A>G	c.(1507-1509)GAT>GGT	p.D503G	VPS52_uc003odn.1_Missense_Mutation_p.D314G	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	503					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						GGGCCGAGTATCCAACCCCCC	0.557													C	33232167	T	C	33232167	3	2	285	1	0	0	0	0	1	0	0	0	17211	1435	50	3	691	3	VPS52	6	33232167	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	7032769	33232167	137882900	28	146946											
C6orf108	10591	broad.mit.edu	37	chr6	43197129	43197129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcccgcagaagtacagGgccgggcggccaggctcccc	14	16	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:43197129G>A	uc003ouo.2	-	1	83	c.66C>T	c.(64-66)GCC>GCT	p.A22A	C6orf108_uc003oup.2_Silent_p.A22A	NM_006443	NP_006434	O43598	RCL_HUMAN	putative c-Myc-responsive isoform 1	22					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			AGAAGTACAGGGCCGGGCGGC	0.736													A	43197129	G	A	43197129	2	1	285	1	0	0	0	0	0	0	0	1	2320	1219	43	4		4	C6orf108	6	43197129	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	9964962	43197129	127917938	29	146947											
RSPH9	221421	broad.mit.edu	37	chr6	43612845	43612845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgacctgatggacgccGacagcctcctgctgtctctg	11	16	1	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:43612845G>A	uc003ovw.1	+	1	36	c.10G>A	c.(10-12)GAC>AAC	p.D4N	RSPH9_uc003ovx.1_Missense_Mutation_p.D4N	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	4					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						GATGGACGCCGACAGCCTCCT	0.667									Kartagener_syndrome				A	43612845	G	A	43612845	3	1	285	1	0	0	0	0	1	0	0	0	13708	1058	37	1	12	1	RSPH9	6	43612845	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	415716	43612845	127502222	30	146948											
PKHD1	5314	broad.mit.edu	37	chr6	51882288	51882288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcattgggaactttcctcGcaaatgtagaggtaaggcca	12	8	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:51882288G>A	uc003pah.1	-	34	5796	c.5520C>T	c.(5518-5520)TGC>TGT	p.C1840C	PKHD1_uc003pai.2_Silent_p.C1840C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1840	Extracellular (Potential).				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			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AACTTTCCTCGCAAATGTAGA	0.493													A	51882288	G	A	51882288	2	1	285	1	0	0	0	0	0	0	0	1	11971	1079	38	1		1	PKHD1	6	51882288	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	8269443	51882288	119232779	31	146949											
AHI1	54806	broad.mit.edu	37	chr6	135784438	135784438	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgtgtcaccagagatggtCaatgtactacaaatataatc	7	8	2	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr6:135784438C>T	uc003qgi.2	-	8	1140	c.756G>A	c.(754-756)TTG>TTA	p.L252L	AHI1_uc003qgh.2_Silent_p.L252L|AHI1_uc003qgj.2_Silent_p.L252L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.L252L	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	252						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CAGAGATGGTCAATGTACTAC	0.323													T	135784438	C	T	135784438	2	4	285	1	0	0	0	0	0	0	0	1	413	825	29	4		4	AHI1	6	135784438	Silent	SNP	C	TCGA-IN-7806-01A-11D-2053-08	83902150	135784438	35330629	32	146950											
STYXL1	51657	broad.mit.edu	37	chr7	75634686	75634686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgaagaccttccctggcaCgatttcaatggggtatggct	11	10	1	1	rs147059565		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr7:75634686C>T	uc003uej.3	-	6	663	c.490G>A	c.(490-492)GTG>ATG	p.V164M	STYXL1_uc003uef.2_Translation_Start_Site|STYXL1_uc011kgf.1_Missense_Mutation_p.V26M|STYXL1_uc011kgg.1_Missense_Mutation_p.V16M|STYXL1_uc003ueh.2_Missense_Mutation_p.V26M|STYXL1_uc003uek.3_Missense_Mutation_p.V68M|STYXL1_uc003uel.2_Missense_Mutation_p.V164M|STYXL1_uc003uem.2_Missense_Mutation_p.V164M|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.V164M|STYXL1_uc003uen.1_Missense_Mutation_p.V164M	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	164	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TTCCCTGGCACGATTTCAATG	0.478													T	75634686	C	T	75634686	3	4	285	1	0	0	0	0	1	0	0	0	15360	536	19	1	467	1	STYXL1	7	75634686	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08		75634686	83503977	33	146951											
MUC17	140453	broad.mit.edu	37	chr7	100684763	100684763	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacgccagtggtcagttctGaggctagcaccctttccaca	9	15	2	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr7:100684763G>A	uc003uxp.1	+	3	10119	c.10066G>A	c.(10066-10068)GAG>AAG	p.E3356K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3356	Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAGCAC	0.483													A	100684763	G	A	100684763	3	1	285	1	0	0	0	0	1	0	0	0	9974	1291	45	4	10076	4	MUC17	7	100684763	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	25050077	100684763	58453900	34	146952											
RELN	5649	broad.mit.edu	37	chr7	103290823	103290823	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggggaattgttattcGgttccacctgcaagaaattt	11	6	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr7:103290823G>A	uc003vca.2	-	16	2060	c.1900C>T	c.(1900-1902)CGA>TGA	p.R634*	RELN_uc010liz.2_Nonsense_Mutation_p.R634*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	634					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGTTATTCGGTTCCACCTG	0.413													A	103290823	G	A	103290823	4	1	285	1	0	0	0	0	0	1	0	0	13220	1124	39	1	8682	1	RELN	7	103290823	Nonsense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	2606060	103290823	55847840	35	146953											
CSMD1	64478	broad.mit.edu	37	chr8	3263657	3263657	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatcacagtggaaagAaaccgagctcccgagtagaa	10	11	2	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:3263657A>T	uc011kwk.1	-	15	2551	c.2161T>A	c.(2161-2163)TCT>ACT	p.S721T	CSMD1_uc011kwj.1_Missense_Mutation_p.S113T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	721	Sushi 4.|Extracellular (Potential).					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)		CAGTGGAAAGAAACCGAGCTC	0.512													T	3263657	A	T	3263657	3	4	285	1	0	0	0	0	1	0	0	0	3944	246	9	5	8760	5	CSMD1	8	3263657	Missense_Mutation	SNP	A	TCGA-IN-7806-01A-11D-2053-08		3263657	143100365	36	146954											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729256	37729256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaggccctcccccagtaCcaacctatctgcctcgccac	5	21	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:37729256C>T	uc003xkm.1	-	4	3108	c.3064G>A	c.(3064-3066)GTA>ATA	p.V1022I	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.V351I|RAB11FIP1_uc003xko.1_Missense_Mutation_p.V351I|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	1022					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCCCCCAGTACCAACCTATCT	0.562													T	37729256	C	T	37729256	3	4	285	1	0	0	0	0	1	0	0	0	12893	507	18	4	799	4	RAB11FIP1	8	37729256	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	34465599	37729256	108634766	37	146955											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885231	88885231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgactccttcttcttcGttcacatgcacgggtaggta	9	13	3	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:88885231G>A	uc003ydz.2	-	1	1066	c.969C>T	c.(967-969)AAC>AAT	p.N323N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	323	WD 2.									ovary(1)	1						CTTCTTCTTCGTTCACATGCA	0.547													A	88885231	G	A	88885231	2	1	285	1	0	0	0	0	0	0	0	1	4272	1136	40	1		1	DCAF4L2	8	88885231	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	51155975	88885231	57478791	38	146956											
DPYS	1807	broad.mit.edu	37	chr8	105405080	105405080	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgaggaataaacttcccatCtcctgccgtgacactgaaca	7	13	1	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:105405080C>A	uc003yly.3	-	8	1504	c.1375G>T	c.(1375-1377)GAT>TAT	p.D459Y	DPYS_uc010mcf.1_Missense_Mutation_p.D29Y	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	459					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AACTTCCCATCTCCTGCCGTG	0.483													A	105405080	C	A	105405080	3	1	285	1	0	0	0	0	1	0	0	0	4746	913	32	5	192	5	DPYS	8	105405080	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	16519849	105405080	40958942	39	146957											
EFR3A	23167	broad.mit.edu	37	chr8	133014029	133014036	+	Frame_Shift_Del	DEL	TTTTGAAG	TTTTGAAG	-													agtaacactgaagaaatcacTtttgaagcattgaagaaagc							TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr8:133014028_133014035CTTTTGAAG>C	uc003yte.3	+	19	2384_2391	c.2180_2187CTTTTGAAG>C	c.(2179-2187)acttttgaafs	p.T727fs		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	727						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)			GAAGAAATCACTTTTGAAGCATTGAAGA	0.322													-	133014036	TTTTGAAG	-	133014029	7	5	285	1	0	1	0	1	0	0	0	0	4958	1596	56	0	2259	0	EFR3A	8	133014029	Frame_Shift_Del	DEL	TTTTGAAG	TCGA-IN-7806-01A-11D-2053-08	27608949	133014029	13349993	40	146958											
IARS	3376	broad.mit.edu	37	chr9	95009740	95009740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaaggctcccttcagacGcttccccaggaccatgtgat	8	14	1	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:95009740G>A	uc004art.1	-	26	2967	c.2710C>T	c.(2710-2712)CGT>TGT	p.R904C	IARS_uc004ars.1_Missense_Mutation_p.R749C|IARS_uc004aru.3_Missense_Mutation_p.R904C|IARS_uc010mqr.2_Missense_Mutation_p.R794C|IARS_uc010mqt.2_Missense_Mutation_p.R127C	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	904					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CCCTTCAGACGCTTCCCCAGG	0.483													A	95009740	G	A	95009740	3	1	285	1	0	0	0	0	1	0	0	0	7473	1087	38	1	1114	1	IARS	9	95009740	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08		95009740	46203691	41	146959											
ACTL7A	10881	broad.mit.edu	37	chr9	111625637	111625637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgtcctgccttaacaaGtgtgacatcgccctcaaacg	8	14	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:111625637G>A	uc004bdj.1	+	1	1035	c.1035G>A	c.(1033-1035)AAG>AAA	p.K345K		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	345						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GCCTTAACAAGTGTGACATCG	0.572													A	111625637	G	A	111625637	2	1	285	1	0	0	0	0	0	0	0	1	200	1020	36	4		4	ACTL7A	9	111625637	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	16615897	111625637	29587794	42	146960											
REXO4	57109	broad.mit.edu	37	chr9	136282791	136282791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggtgcctttggaggTcgcaccacagcaccggggcc	13	14	2	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:136282791T>C	uc004cdm.2	-	1	374	c.174A>G	c.(172-174)CGA>CGG	p.R58R	ADAMTS13_uc004cdp.3_Intron|REXO4_uc011mde.1_5'UTR|REXO4_uc011mdf.1_5'UTR|REXO4_uc004cdn.2_5'UTR|REXO4_uc004cdo.2_Silent_p.R58R	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog	58						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CCTTTGGAGGTCGCACCACAG	0.572													C	136282791	T	C	136282791	2	2	285	1	0	0	0	0	0	0	0	1	13243	1654	58	3		3	REXO4	9	136282791	Silent	SNP	T	TCGA-IN-7806-01A-11D-2053-08	24657154	136282791	4930640	43	146961											
PHPT1	29085	broad.mit.edu	37	chr9	139744466	139744466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccctcccatcccagcGgacatctacgacaaagtgtc	9	17	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr9:139744466G>A	uc004cjp.2	+	3	784	c.162G>A	c.(160-162)GCG>GCA	p.A54A	PHPT1_uc011mei.1_Silent_p.A54A|PHPT1_uc004cjq.3_Silent_p.A54A|MAMDC4_uc004cjs.2_5'Flank|MAMDC4_uc011mej.1_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1 isoform 3	54						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCATCCCAGCGGACATCTACG	0.642													A	139744466	G	A	139744466	2	1	285	1	0	0	0	0	0	0	0	1	11860	1130	39	1		1	PHPT1	9	139744466	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	3461675	139744466	1468965	44	146962											
PRKCQ	5588	broad.mit.edu	37	chr10	6472771	6472771	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatgagcgagtccttaCcactttcggccggaacggtg	13	13	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:6472771C>A	uc001ijj.1	-	17	2040	c.1965_splice	c.e17+1	p.V655_splice	PRKCQ_uc009xim.1_Splice_Site_p.V592_splice|PRKCQ_uc001iji.1_Splice_Site_p.V688_splice|PRKCQ_uc009xin.1_Splice_Site_p.V619_splice|PRKCQ_uc010qax.1_Splice_Site_p.V530_splice	NM_006257	NP_006248	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			ovary(3)|lung(2)|large_intestine(1)	6						CGAGTCCTTACCACTTTCGGC	0.632													A	6472771	C	A	6472771	5	1	285	1	0	0	0	0	0	0	1	0	12515	521	18	5	162	5	PRKCQ	10	6472771	Splice_Site	SNP	C	TCGA-IN-7806-01A-11D-2053-08		6472771	129061976	45	146963											
C10orf71	118461	broad.mit.edu	37	chr10	50530852	50530852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggagccagttaccgtcaCagggcacggaacattcgggc	13	11	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:50530852C>A	uc010qgp.1	+	3	601	c.262C>A	c.(262-264)CAG>AAG	p.Q88K		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	88											0						GTTACCGTCACAGGGCACGGA	0.577													A	50530852	C	A	50530852	3	1	285	1	0	0	0	0	1	0	0	0	1614	479	17	5	264	5	C10orf71	10	50530852	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	44058081	50530852	85003895	46	146964											
GRID1	2894	broad.mit.edu	37	chr10	87379661	87379661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaggggctgccatgctGcagggcaatcccgtaaccct	12	14	0	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:87379661G>T	uc001kdl.1	-	14	2424	c.2323C>A	c.(2323-2325)CAG>AAG	p.Q775K	GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Missense_Mutation_p.Q346K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	775	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CTGCCATGCTGCAGGGCAATC	0.592										Multiple Myeloma(13;0.14)			T	87379661	G	T	87379661	3	4	285	1	0	0	0	0	1	0	0	0	6771	1328	46	5	718	5	GRID1	10	87379661	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	36848809	87379661	48155086	47	146965											
SEC31B	25956	broad.mit.edu	37	chr10	102265860	102265860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcacagagtacaaactgatCcagccgttgaaggaggcagc	11	10	1	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr10:102265860C>A	uc001krc.1	-	9	1083	c.981G>T	c.(979-981)TGG>TGT	p.W327C	SEC31B_uc010qpo.1_Missense_Mutation_p.W326C|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.W330C|SEC31B_uc009xwn.1_Missense_Mutation_p.W327C|SEC31B_uc009xwo.1_Missense_Mutation_p.W327C|SEC31B_uc010qpq.1_Missense_Mutation_p.W170C	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	327	WD 6.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACAAACTGATCCAGCCGTTGA	0.532													A	102265860	C	A	102265860	3	1	285	1	0	0	0	0	1	0	0	0	13999	856	30	5	2630	5	SEC31B	10	102265860	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	14886199	102265860	33268887	48	146966											
TRIM34	53840	broad.mit.edu	37	chr11	5655984	5655984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaagacgctggatAagtttgcagaggctgaggat	14	4	0	5			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:5655984A>G	uc001mbh.2	+	4	800	c.643A>G	c.(643-645)AAG>GAG	p.K215E	HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Missense_Mutation_p.K569E|TRIM34_uc009yeq.2_Translation_Start_Site|TRIM34_uc001mbi.2_Missense_Mutation_p.K215E|TRIM34_uc001mbj.2_Missense_Mutation_p.K215E	NM_001003827	NP_001003827	Q9BYJ4	TRI34_HUMAN	tripartite motif protein 34 isoform 1	215	Potential.				protein trimerization	cytoplasm	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACGCTGGATAAGTTTGCAGA	0.448													G	5655984	A	G	5655984	3	3	285	1	0	0	0	0	1	0	0	0	16505	363	13	3	653	3	TRIM34	11	5655984	Missense_Mutation	SNP	A	TCGA-IN-7806-01A-11D-2053-08		5655984	129350532	49	146967											
DTX4	23220	broad.mit.edu	37	chr11	58949457	58949457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccagcgccaacgccgcGtccgccggcgcctcgacctc	11	21	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:58949457G>A	uc001nns.2	+	2	714	c.457G>A	c.(457-459)GTC>ATC	p.V153I	DTX4_uc001nnr.2_Missense_Mutation_p.V47I	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	153	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CCAACGCCGCGTCCGCCGGCG	0.627													A	58949457	G	A	58949457	3	1	285	1	0	0	0	0	1	0	0	0	4797	1145	40	1	463	1	DTX4	11	58949457	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	53293473	58949457	76057059	50	146968											
MEN1	4221	broad.mit.edu	37	chr11	64572604	64572604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcccatttgcagatgccgtCgtagaatcgcagcaggtggg	13	11	0	2	rs104894264		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:64572604C>A	uc001obj.2	-	9	1340	c.1267G>T	c.(1267-1269)GAC>TAC	p.D423Y	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.D423Y|MEN1_uc001obl.2_Missense_Mutation_p.D383Y|MEN1_uc001obm.2_Missense_Mutation_p.D418Y|MEN1_uc001obn.2_Missense_Mutation_p.D423Y|MEN1_uc001obo.2_Missense_Mutation_p.D423Y|MEN1_uc001obp.2_Missense_Mutation_p.D418Y|MEN1_uc001obq.2_Missense_Mutation_p.D423Y|MEN1_uc001obr.2_Missense_Mutation_p.D423Y	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	423			Missing (in MEN1).|D -> H (in MEN1).|D -> N (in MEN1).|Missing (in MEN1).		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.D418N(1)|p.L414_E425del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						CAGATGCCGTCGTAGAATCGC	0.632			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				A	64572604	C	A	64572604	3	1	285	1	0	0	0	0	1	0	0	0	9472	884	31	5	588	5	MEN1	11	64572604	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	5623147	64572604	70433912	51	146969											
MEN1	4221	broad.mit.edu	37	chr11	64575026	64575026	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggctcagccctcacctGctgcagctgcagaagctcca	9	16	2	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:64575026G>A	uc001obj.2	-	4	869	c.796C>T	c.(796-798)CAG>TAG	p.Q266*	MEN1_uc001obk.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q226*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q261*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q261*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q266*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q266*	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	266	Interaction with FANCD2.		Q -> QLQ (in MEN1).		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.W265_L267del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						gccctcacctgctgcagctgc	0.259			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				A	64575026	G	A	64575026	4	1	285	1	0	0	0	0	0	1	0	0	9472	1328	46	2	1079	2	MEN1	11	64575026	Nonsense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	2422	64575026	70431490	52	146970											
CARNS1	57571	broad.mit.edu	37	chr11	67191993	67191993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaccgaggcccgtctccGcctgctgggcctctgccagg	12	20	2	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:67191993G>A	uc009yrp.2	+	9	2857	c.2405G>A	c.(2404-2406)CGC>CAC	p.R802H	CARNS1_uc001olc.3_Missense_Mutation_p.R941H	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	802					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						GCCCGTCTCCGCCTGCTGGGC	0.672													A	67191993	G	A	67191993	3	1	285	1	0	0	0	0	1	0	0	0	2656	1087	38	1	2808	1	CARNS1	11	67191993	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	2616967	67191993	67814523	53	146971											
UCP3	7352	broad.mit.edu	37	chr11	73717372	73717372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatggtgcccagcacgCcacggtactgcacgagccgg	14	14	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:73717372C>G	uc001our.2	-	3	534	c.179G>C	c.(178-180)GGC>GCC	p.G60A	UCP3_uc001ous.2_Missense_Mutation_p.G60A	NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	60	Solcar 1.				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)					GCCCAGCACGCCACGGTACTG	0.657													G	73717372	C	G	73717372	3	3	285	1	0	0	0	0	1	0	0	0	16929	739	26	5	783	5	UCP3	11	73717372	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	6525379	73717372	61289144	54	146972											
MYO7A	4647	broad.mit.edu	37	chr11	76893499	76893499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctggatcaccatcctcCgcttcatgggggacctccct	10	16	3	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:76893499C>T	uc001oyb.2	+	25	3411	c.3139C>T	c.(3139-3141)CGC>TGC	p.R1047C	MYO7A_uc010rsl.1_Missense_Mutation_p.R1047C|MYO7A_uc010rsm.1_Missense_Mutation_p.R1036C|MYO7A_uc001oyc.2_Missense_Mutation_p.R1047C|MYO7A_uc001oyd.2_Missense_Mutation_p.R387C|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.R258C	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1047	MyTH4 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			ovary(3)|breast(1)	4						CACCATCCTCCGCTTCATGGG	0.582													T	76893499	C	T	76893499	3	4	285	1	0	0	0	0	1	0	0	0	10082	652	23	1	3233	1	MYO7A	11	76893499	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	3176127	76893499	58113017	55	146973											
CNTN5	53942	broad.mit.edu	37	chr11	99827607	99827607	+	Frame_Shift_Del	DEL	C	C	-													agacagccggcggttcatctCccaggagacaggcaaccttt							TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:99827606_99827606TC>T	uc001pga.3	+	7	1246	c.742_742TC>T	c.(742-744)tccfs	p.S248fs	CNTN5_uc009ywv.2_Frame_Shift_Del_p.S248fs|CNTN5_uc001pfz.3_Frame_Shift_Del_p.S248fs|CNTN5_uc021qpb.1_Frame_Shift_Del_p.S248fs|CNTN5_uc021qpc.1_Frame_Shift_Del_p.S174fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	248	Ig-like C2-type 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)		GCGGTTCATCTCCCAGGAGAC	0.423													-	99827607	C	-	99827607	7	5	285	1	0	1	0	1	0	0	0	0	3644	855	30	0	765	0	CNTN5	11	99827607	Frame_Shift_Del	DEL	C	TCGA-IN-7806-01A-11D-2053-08	22934108	99827607	35178909	56	146974											
DYNC2H1	79659	broad.mit.edu	37	chr11	103086494	103086494	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaaagctcttgtggatgaActgaacagaaaagctggaga	12	6	1	4			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr11:103086494A>G	uc001pho.2	+	55	8883	c.8739A>G	c.(8737-8739)GAA>GAG	p.E2913E	DYNC2H1_uc001phn.1_Silent_p.E2913E|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2913	Potential.|Stalk (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				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGTGGATGAACTGAACAGAA	0.358													G	103086494	A	G	103086494	2	3	285	1	0	0	0	0	0	0	0	1	4846	40	2	3		3	DYNC2H1	11	103086494	Silent	SNP	A	TCGA-IN-7806-01A-11D-2053-08	3258887	103086494	31920022	57	146975											
TAS2R43	259289	broad.mit.edu	37	chr12	11244154	11244154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacagtttgcaaagctttTatgtggaccttggtgctggg	12	7	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:11244154T>C	uc001qzq.1	-	1	759	c.675A>G	c.(673-675)ATA>ATG	p.I225M	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	225	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAAAGCTTTTATGTGGACCT	0.383													C	11244154	T	C	11244154	3	2	285	1	0	0	0	0	1	0	0	0	15578	1744	61	3	258	3	TAS2R43	12	11244154	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08		11244154	122607741	58	146976											
ACVR1B	91	broad.mit.edu	37	chr12	52387827	52387827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgccaacggcgcagcccGcctgacggccctgcgcatca	12	17	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:52387827G>A	uc001rzn.2	+	9	1493	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	ACVR1B_uc010snn.1_Missense_Mutation_p.R525H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	484	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGCGCAGCCCGCCTGACGGCC	0.622													A	52387827	G	A	52387827	3	1	285	1	0	0	0	0	1	0	0	0	221	1087	38	1	1612	1	ACVR1B	12	52387827	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	41143673	52387827	81464068	59	146977											
ACAD10	80724	broad.mit.edu	37	chr12	112193499	112193499	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggatatagccatgattAaaatggtcgccccgtccatg	9	11	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:112193499A>C	uc001tsq.2	+	20	3189	c.2989A>C	c.(2989-2991)AAA>CAA	p.K997Q	ACAD10_uc009zvx.2_Missense_Mutation_p.K1028Q|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	997							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AGCCATGATTAAAATGGTCGC	0.542													C	112193499	A	C	112193499	3	2	285	1	0	0	0	0	1	0	0	0	108	363	13	5	3160	5	ACAD10	12	112193499	Missense_Mutation	SNP	A	TCGA-IN-7806-01A-11D-2053-08	59805672	112193499	21658396	60	146978											
IL31	386653	broad.mit.edu	37	chr12	122658467	122658467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacttggtcgtagtaaaCggacgggcaacgtgtgggag	15	8	1	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr12:122658467C>T	uc001ubv.2	-	2	116	c.89G>A	c.(88-90)CGT>CAT	p.R30H	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	30						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCGTAGTAAACGGACGGGCAA	0.517													T	122658467	C	T	122658467	3	4	285	1	0	0	0	0	1	0	0	0	7690	536	19	1	413	1	IL31	12	122658467	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	10464968	122658467	11193428	61	146979											
ZMYM2	7750	broad.mit.edu	37	chr13	20641135	20641135	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcaacttgatgaagatcttCtggtattagatgagttaaaa	10	4	2	5			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr13:20641135C>T	uc001umr.2	+	21	3575	c.3277C>T	c.(3277-3279)CTG>TTG	p.L1093L	ZMYM2_uc001ums.2_Silent_p.L1093L|ZMYM2_uc001umt.2_Silent_p.L1093L|ZMYM2_uc001umv.2_Silent_p.L473L|ZMYM2_uc001umw.2_Silent_p.L546L	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		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)		TGAAGATCTTCTGGTATTAGA	0.313													T	20641135	C	T	20641135	2	4	285	1	0	0	0	0	0	0	0	1	17697	912	32	4		4	ZMYM2	13	20641135	Silent	SNP	C	TCGA-IN-7806-01A-11D-2053-08		20641135	94528743	62	146980											
DNAJC3	5611	broad.mit.edu	37	chr13	96375503	96375503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaattttcagatggtgaCcctgataactatattgctta	6	6	1	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr13:96375503C>T	uc001vmq.2	+	3	309	c.201C>T	c.(199-201)GAC>GAT	p.D67D	DNAJC3_uc001vmp.2_Silent_p.D67D|DNAJC3_uc001vmr.2_Silent_p.D67D	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	67	TPR 1.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CAGATGGTGACCCTGATAACT	0.303													T	96375503	C	T	96375503	2	4	285	1	0	0	0	0	0	0	0	1	4647	506	18	4		4	DNAJC3	13	96375503	Silent	SNP	C	TCGA-IN-7806-01A-11D-2053-08	75734368	96375503	18794375	63	146981											
APBA2	321	broad.mit.edu	37	chr15	29406154	29406154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcatcatcgagatcaacGggcagagcgtggtggccaca	13	12	2	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:29406154G>A	uc001zck.2	+	13	2320	c.2113G>A	c.(2113-2115)GGG>AGG	p.G705R	APBA2_uc010uat.1_Missense_Mutation_p.G693R|APBA2_uc001zcl.2_Missense_Mutation_p.G693R	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	705	PDZ 2.				nervous system development|protein transport		protein binding				0		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)		CGAGATCAACGGGCAGAGCGT	0.607													A	29406154	G	A	29406154	3	1	285	1	0	0	0	0	1	0	0	0	757	1116	39	1	2155	1	APBA2	15	29406154	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08		29406154	73125238	64	146982											
WDR76	79968	broad.mit.edu	37	chr15	44120487	44120487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctacaacccaagagaacgGcagatgcgatgaatctcagt	10	10	1	3			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:44120487G>T	uc001zti.1	+	2	408	c.385G>T	c.(385-387)GCA>TCA	p.A129S		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	129											0		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)		CAAGAGAACGGCAGATGCGAT	0.428													T	44120487	G	T	44120487	3	4	285	1	0	0	0	0	1	0	0	0	17323	1203	42	5	391	5	WDR76	15	44120487	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	14714333	44120487	58410905	65	146983											
HDC	3067	broad.mit.edu	37	chr15	50534549	50534550	+	Frame_Shift_Ins	INS	-	-	T													acgctgtagaatttgatgagINSttttttgaaggcacttttct							TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:50534549_50534550insT	uc001zxz.2	-	12	2002_2003	c.1896_1897insA	c.(1894-1899)AAACTCfs	p.K632fs	HDC_uc001zxy.2_Frame_Shift_Ins_p.K375fs|HDC_uc010uff.1_Frame_Shift_Ins_p.K599fs	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	632_633					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AATTTGATGAGTTTTTTGAAGG	0.49													T	50534550	-	T	50534549	7	5	285	1	0	1	1	0	0	0	0	0	7015	1029	36	0	95	0	HDC	15	50534549	Frame_Shift_Ins	INS	-	TCGA-IN-7806-01A-11D-2053-08	6414062	50534549	51996843	66	146984	783	2									
HDC	3067	broad.mit.edu	37	chr15	50534550	50534551	+	Frame_Shift_Ins	INS	-	-	T													cgctgtagaatttgatgagtINStttttgaaggcacttttctt							TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:50534549_50534550G>GT	uc001zxz.3	-	11	2238_2239	c.1896_1897C>AC	c.(1894-1899)aaactcfs	p.K632fs	HDC_uc001zxy.3_Frame_Shift_Ins_p.K375fs|HDC_uc010uff.2_Frame_Shift_Ins_p.K599fs	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	632					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)	AATTTGATGAGTTTTTTGAAGG	0.51													T	50534551	-	T	50534550	7	5	285	1	0	1	1	0	0	0	0	0	7015	1722	60	0	96	0	HDC	15	50534550	Frame_Shift_Ins	INS	-	TCGA-IN-7806-01A-11D-2053-08	1	50534550	51996842	67	146985	783	2									
UNC13C	440279	broad.mit.edu	37	chr15	54630687	54630687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcccagctaacagacccGgtaagaaaatatgtatgtct	7	10	1	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:54630687G>A	uc002ack.2	+	15	4713	c.4713G>A	c.(4711-4713)CCG>CCA	p.P1571P	UNC13C_uc002acl.2_Silent_p.P401P	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1571					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAACAGACCCGGTAAGAAAAT	0.363													A	54630687	G	A	54630687	2	1	285	1	0	0	0	0	0	0	0	1	16983	1130	39	1		1	UNC13C	15	54630687	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	4096137	54630687	47900705	68	146986											
FAM154B	283726	broad.mit.edu	37	chr15	82575372	82575372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtcataaattcttccGcaagattattcctgcagtga	7	10	2	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr15:82575372G>A	uc002bgv.2	+	3	1235	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	FAM154B_uc010unr.1_Missense_Mutation_p.R374H|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	389										skin(2)	2						AAATTCTTCCGCAAGATTATT	0.388													A	82575372	G	A	82575372	3	1	285	1	0	0	0	0	1	0	0	0	5464	1087	38	1	1176	1	FAM154B	15	82575372	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	27944685	82575372	19956020	69	146987											
TEKT5	146279	broad.mit.edu	37	chr16	10729625	10729625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccctcacttacttcaActgcgggatgtccctgcaca	8	16	2	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr16:10729625A>T	uc002czz.1	-	6	1309	c.1237T>A	c.(1237-1239)TTG>ATG	p.L413M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	413					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						ACTTACTTCAACTGCGGGATG	0.627													T	10729625	A	T	10729625	3	4	285	1	0	0	0	0	1	0	0	0	15753	40	2	5	228	5	TEKT5	16	10729625	Missense_Mutation	SNP	A	TCGA-IN-7806-01A-11D-2053-08		10729625	79625128	70	146988											
CYLD	1540	broad.mit.edu	37	chr16	50785785	50785785	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgatgttttgccaggaaaaGaaagcttaggatattttgtt	11	3	0	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr16:50785785G>A	uc002egp.1	+	5	1190	c.775G>A	c.(775-777)GAA>AAA	p.E259K	CYLD_uc002egn.1_Missense_Mutation_p.E259K|CYLD_uc002ego.2_Missense_Mutation_p.E259K|CYLD_uc010cbs.1_Missense_Mutation_p.E259K|CYLD_uc002egq.1_Missense_Mutation_p.E259K|CYLD_uc002egr.1_Missense_Mutation_p.E259K|CYLD_uc002egs.1_Missense_Mutation_p.E259K	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	259	CAP-GLY 2.|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			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				GCCAGGAAAAGAAAGCTTAGG	0.284			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				A	50785785	G	A	50785785	3	1	285	1	0	0	0	0	1	0	0	0	4143	943	33	4	781	4	CYLD	16	50785785	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	40056160	50785785	39568968	71	146989											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7577094	G	A	7577094	3	1	285	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08		7577094	73618116	72	146990											
PLXDC1	57125	broad.mit.edu	37	chr17	37264391	37264391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccattgtcaaagtaaaCaactgtggagttgtcggagt	10	8	2	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:37264391C>T	uc002hrg.2	-	5	789	c.577G>A	c.(577-579)GTT>ATT	p.V193I	uc002hrf.1_3'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	193	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						TCAAAGTAAACAACTGTGGAG	0.532													T	37264391	C	T	37264391	3	4	285	1	0	0	0	0	1	0	0	0	12117	478	17	4	965	4	PLXDC1	17	37264391	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08	29687297	37264391	43930819	73	146991											
TEX14	56155	broad.mit.edu	37	chr17	56665028	56665028	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggttccacactcatcCtgaattgcacgggttttttg	8	10	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:56665028C>G	uc010dcz.1	-	17	2839	c.2721_splice	c.e17-1	p.R907_splice	TEX14_uc002iwr.1_Splice_Site_p.R901_splice|TEX14_uc002iws.1_Splice_Site_p.R901_splice|TEX14_uc010dda.1_Splice_Site_p.R681_splice	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACACTCATCCTGAATTGCAC	0.438											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	56665028	C	G	56665028	5	3	285	1	0	0	0	0	0	0	1	0	15775	695	24	5	1841	5	TEX14	17	56665028	Splice_Site	SNP	C	TCGA-IN-7806-01A-11D-2053-08	19400637	56665028	24530182	74	146992											
FASN	2194	broad.mit.edu	37	chr17	80046085	80046085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggcgcgggccagcgTcttccacactatgctcaggt	13	15	2	0			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr17:80046085T>C	uc002kdu.2	-	17	2809	c.2692A>G	c.(2692-2694)ACG>GCG	p.T898A	FASN_uc002kdw.1_Missense_Mutation_p.T114A	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	898					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(1)	1	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)	CGGGCCAGCGTCTTCCACACT	0.652													C	80046085	T	C	80046085	3	2	285	1	0	0	0	0	1	0	0	0	5683	1667	58	3	4951	3	FASN	17	80046085	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	23381057	80046085	1149125	75	146993											
LAMA1	284217	broad.mit.edu	37	chr18	6942154	6942154	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagtcaaaggactgcAcctgcgggctcttaatcaga	11	10	3	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr18:6942154A>G	uc002knm.2	-	63	9246	c.9152T>C	c.(9151-9153)GTG>GCG	p.V3051A	LAMA1_uc002knk.2_Missense_Mutation_p.V381A|LAMA1_uc002knl.2_Missense_Mutation_p.V504A|LAMA1_uc010wzj.1_Missense_Mutation_p.V2527A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	3051	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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGGACTGCACCTGCGGGCT	0.532													G	6942154	A	G	6942154	3	3	285	1	0	0	0	0	1	0	0	0	8605	159	6	3	79	3	LAMA1	18	6942154	Missense_Mutation	SNP	A	TCGA-IN-7806-01A-11D-2053-08		6942154	71135094	76	146994											
NETO1	81832	broad.mit.edu	37	chr18	70417340	70417340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcctgtgactggtggTcggcacctcttcgatttcat	12	11	2	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr18:70417340T>C	uc002lkw.2	-	9	1782	c.1498A>G	c.(1498-1500)ACC>GCC	p.T500A	NETO1_uc002lkx.1_Missense_Mutation_p.T499A|NETO1_uc002lky.1_Missense_Mutation_p.T500A	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	500	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGACTGGTGGTCGGCACCTCT	0.453													C	70417340	T	C	70417340	3	2	285	1	0	0	0	0	1	0	0	0	10339	1667	58	3	111	3	NETO1	18	70417340	Missense_Mutation	SNP	T	TCGA-IN-7806-01A-11D-2053-08	63475186	70417340	7659908	77	146995											
COL5A3	50509	broad.mit.edu	37	chr19	10077052	10077052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtgaagttgcaaaaaaCcctgaacgagtcccgcgcgc	11	14	0	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:10077052C>A	uc002mmq.1	-	64	4806	c.4720G>T	c.(4720-4722)GTT>TTT	p.V1574F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1574	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TTGCAAAAAACCCTGAACGAG	0.607													A	10077052	C	A	10077052	3	1	285	1	0	0	0	0	1	0	0	0	3698	507	18	5	533	5	COL5A3	19	10077052	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08		10077052	49051931	78	146996											
ILVBL	10994	broad.mit.edu	37	chr19	15233935	15233935	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggactgggtacctgcagcaGagtgctggcagccccaccca	13	14	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:15233935G>A	uc002nam.2	-	4	578	c.457C>T	c.(457-459)CTG>TTG	p.L153L	ILVBL_uc010dzw.2_Silent_p.L46L|ILVBL_uc010dzx.1_Silent_p.L153L	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	153						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						ACCTGCAGCAGAGTGCTGGCA	0.627													A	15233935	G	A	15233935	2	1	285	1	0	0	0	0	0	0	0	1	7715	933	33	4		4	ILVBL	19	15233935	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08	5156883	15233935	43895048	79	146997											
C5AR1	728	broad.mit.edu	37	chr19	47823124	47823124	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctgtggataaaacttcTaacacgctgcgtgttccaga	8	12	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:47823124T>C	uc002pgj.1	+	2	139	c.90T>C	c.(88-90)TCT>TCC	p.S30S		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	30	Extracellular (Potential).				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			ovary(2)|central_nervous_system(1)|skin(1)	4		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)		ATAAAACTTCTAACACGCTGC	0.532													C	47823124	T	C	47823124	2	2	285	1	0	0	0	0	0	0	0	1	2281	1509	53	3		3	C5AR1	19	47823124	Silent	SNP	T	TCGA-IN-7806-01A-11D-2053-08	32589189	47823124	11305859	80	146998											
AP2A1	160	broad.mit.edu	37	chr19	50302934	50302934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcggctgacctcctctacGccatgtgtgaccggagcaat	13	13	1	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:50302934G>T	uc002ppn.2	+	10	1394	c.1183G>T	c.(1183-1185)GCC>TCC	p.A395S	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.A395S|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	395					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			ovary(2)	2		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)		CCTCCTCTACGCCATGTGTGA	0.632													T	50302934	G	T	50302934	3	4	285	1	0	0	0	0	1	0	0	0	739	1087	38	5	1221	5	AP2A1	19	50302934	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	2479810	50302934	8826049	81	146999											
FPR2	2358	broad.mit.edu	37	chr19	52272624	52272624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatgattaaatccagccGtcccttacgggtcctcactg	10	13	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr19:52272624G>A	uc002pxr.2	+	2	758	c.713G>A	c.(712-714)CGT>CAT	p.R238H	FPR2_uc002pxs.3_Missense_Mutation_p.R238H|FPR2_uc010epf.2_Missense_Mutation_p.R238H	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	238	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						AAATCCAGCCGTCCCTTACGG	0.507													A	52272624	G	A	52272624	3	1	285	1	0	0	0	0	1	0	0	0	6039	1145	40	1	715	1	FPR2	19	52272624	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	1969690	52272624	6856359	82	147000											
FLRT3	23767	broad.mit.edu	37	chr20	14306395	14306395	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagtttccctgatttccagGatagagttgtccttcttagt	9	8	1	2			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr20:14306395G>A	uc002wov.1	-	3	2225	c.1758C>T	c.(1756-1758)ATC>ATT	p.I586I	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.I586I	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	586	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGATTTCCAGGATAGAGTTGT	0.418													A	14306395	G	A	14306395	2	1	285	1	0	0	0	0	0	0	0	1	5940	1164	41	4		4	FLRT3	20	14306395	Silent	SNP	G	TCGA-IN-7806-01A-11D-2053-08		14306395	48719125	83	147001											
C20orf195	79025	broad.mit.edu	37	chr20	62187465	62187465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccggtcgccagacccacGgcccttcctggccgactggg	13	18	0	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chr20:62187465G>A	uc002yfj.2	+	2	541	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	C20orf195_uc002yfk.2_Missense_Mutation_p.R150Q	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	150											0	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)			CCAGACCCACGGCCCTTCCTG	0.682													A	62187465	G	A	62187465	3	1	285	1	0	0	0	0	1	0	0	0	2100	1116	39	1	451	1	C20orf195	20	62187465	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	47881070	62187465	838055	84	147002											
MCF2	4168	broad.mit.edu	37	chrX	138724648	138724648	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcattccttctgaacctcatCttgcctctccggggatttgc	8	14	4	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chrX:138724648C>A	uc004fau.2	-	1	324	c.30G>T	c.(28-30)AAG>AAT	p.K10N	MCF2_uc004fav.2_Missense_Mutation_p.K10N|MCF2_uc011mwl.1_Missense_Mutation_p.K10N|MCF2_uc010nsh.1_Missense_Mutation_p.K10N|MCF2_uc011mwm.1_Missense_Mutation_p.K10N|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Intron|MCF2_uc011mwo.1_Intron	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	10	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TGAACCTCATCTTGCCTCTCC	0.493													A	138724648	C	A	138724648	3	1	285	1	0	0	0	0	1	0	0	0	9378	912	32	5	2927	5	MCF2	23	138724648	Missense_Mutation	SNP	C	TCGA-IN-7806-01A-11D-2053-08		138724648	16545912	85	147003											
SLITRK2	84631	broad.mit.edu	37	chrX	144906417	144906417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctttactgcaagctaAgccgcaatcagaaccggact	7	15	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chrX:144906417A>C	uc004fcd.2	+	5	3464	c.2474A>C	c.(2473-2475)AAG>ACG	p.K825T	SLITRK2_uc010nsp.2_Missense_Mutation_p.K825T|SLITRK2_uc010nso.2_Missense_Mutation_p.K825T|SLITRK2_uc011mwq.1_Missense_Mutation_p.K825T|SLITRK2_uc011mwr.1_Missense_Mutation_p.K825T|SLITRK2_uc011mws.1_Missense_Mutation_p.K825T|SLITRK2_uc004fcg.2_Missense_Mutation_p.K825T|SLITRK2_uc011mwt.1_Missense_Mutation_p.K825T|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	825	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAAGCTAAGCCGCAATCA	0.448													C	144906417	A	C	144906417	3	2	285	1	0	0	0	0	1	0	0	0	14743	72	3	5	2476	5	SLITRK2	23	144906417	Missense_Mutation	SNP	A	TCGA-IN-7806-01A-11D-2053-08	6181769	144906417	10364143	86	147004											
ATP2B3	492	broad.mit.edu	37	chrX	152807375	152807375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggggacattgcccagGtcaagtacggtgagtgccct	16	9	1	1			TCGA-IN-7806-01A-11D-2053-08	TCGA-IN-7806-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	576a1741-8c65-40da-9f0f-b2ca805d70f3	970c4bae-8c4f-423f-948b-5da4a38b8e09	g.chrX:152807375G>A	uc004fht.1	+	3	781	c.655G>A	c.(655-657)GTC>ATC	p.V219I	ATP2B3_uc004fhs.1_Missense_Mutation_p.V219I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	219	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATTGCCCAGGTCAAGTACGG	0.637													A	152807375	G	A	152807375	3	1	285	1	0	0	0	0	1	0	0	0	1141	1261	44	4	665	4	ATP2B3	23	152807375	Missense_Mutation	SNP	G	TCGA-IN-7806-01A-11D-2053-08	7900958	152807375	2463185	87	147005											
ALDH4A1	8659	broad.mit.edu	37	chr1	19203948	19203948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgctcctccagcagccGccctttgatctgcggccaca	9	17	1	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:19203948G>A	uc001bbb.2	-	10	1375	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	ALDH4A1_uc010ocu.1_Missense_Mutation_p.R307W|ALDH4A1_uc001bbc.2_Missense_Mutation_p.R367W	NM_170726	NP_733844	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4A1 isoform a precursor	367					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity				0		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TCCAGCAGCCGCCCTTTGATC	0.687													A	19203948	G	A	19203948	3	1	286	1	0	0	0	0	1	0	0	0	501	1086	38	1	616	1	ALDH4A1	1	19203948	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08		19203948	230046673	1	147006											
MACF1	23499	broad.mit.edu	37	chr1	39919394	39919394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaggaattcatgaagaaaGtagaagaaaagcgagtggac	12	3	1	4			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:39919394G>T	uc010oiu.1	+	53	16218	c.16087G>T	c.(16087-16089)GTA>TTA	p.V5363L	MACF1_uc010ois.1_Missense_Mutation_p.V4861L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	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)			CATGAAGAAAGTAGAAGAAAA	0.408													T	39919394	G	T	39919394	3	4	286	1	0	0	0	0	1	0	0	0	9144	1029	36	5	21066	5	MACF1	1	39919394	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	20715446	39919394	209331227	2	147007											
HIVEP3	59269	broad.mit.edu	37	chr1	42047371	42047371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggcggggccacccgcGctggtggagccactggggct	17	14	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:42047371G>A	uc001cgz.3	-	4	4311	c.3098C>T	c.(3097-3099)GCG>GTG	p.A1033V	HIVEP3_uc001cha.3_Missense_Mutation_p.A1033V|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1033	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCCACCCGCGCTGGTGGAGC	0.587													A	42047371	G	A	42047371	3	1	286	1	0	0	0	0	1	0	0	0	7188	1087	38	1	4146	1	HIVEP3	1	42047371	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	2127977	42047371	207203250	3	147008											
CMPK1	51727	broad.mit.edu	37	chr1	47834143	47834144	+	Frame_Shift_Ins	INS	-	-	AT													atgtgtgcttctttcagaaaINStatggctacacacacctttc							TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:47834142_47834143A>AAT	uc001cri.3	+	1	322_323	c.173_174A>AAT	c.(172-174)aaafs	p.K58fs	CMPK1_uc010omp.2_Intron|CMPK1_uc010omq.2_Non-coding_Transcript	NM_016308	NP_057392	P30085	KCY_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 1, cytosolic (CMPK1), transcript variant 1, mRNA.	26					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	TTCTTTCAGAAATATGGCTACA	0.347													AT	47834144	-	AT	47834143	7	5	286	1	0	1	1	0	0	0	0	0	3580	98	4	0	180	0	CMPK1	1	47834143	Frame_Shift_Ins	INS	-	TCGA-IN-7808-01A-11D-2201-08	5786772	47834143	201416478	4	147009											
RBM15	64783	broad.mit.edu	37	chr1	110883915	110883915	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggaccgggacagaggtgatCgagatctgcccagcagcaga	15	10	1	4			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:110883915C>G	uc001dzl.1	+	1	1971	c.1888C>G	c.(1888-1890)CGA>GGA	p.R630G	RBM15_uc001dzm.1_Missense_Mutation_p.R630G|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	630	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)		CAGAGGTGATCGAGATCTGCC	0.602			T	MKL1	acute megakaryocytic leukemia								G	110883915	C	G	110883915	3	3	286	1	0	0	0	0	1	0	0	0	13116	876	31	5	1890	5	RBM15	1	110883915	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	63049772	110883915	138366706	5	147010											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785222	149785222	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcgacttgcgggcagtctgCttagtacgggccatgctgtc	14	11	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:149785222C>G	uc010pbl.1	-	1	15	c.15G>C	c.(13-15)AAG>AAC	p.K5N	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	5					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						GGGCAGTCTGCTTAGTACGGG	0.572													G	149785222	C	G	149785222	3	3	286	1	0	0	0	0	1	0	0	0	7181	796	28	5	397	5	HIST2H3D	1	149785222	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	38901307	149785222	99465399	6	147011											
SELENBP1	8991	broad.mit.edu	37	chr1	151338282	151338282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcccttcactttcttgGggggcacctggatcaccttc	10	15	3	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:151338282G>A	uc001exx.2	-	8	931	c.884C>T	c.(883-885)CCC>CTC	p.P295L	SELENBP1_uc010pcy.1_Missense_Mutation_p.P337L|SELENBP1_uc001exy.2_Missense_Mutation_p.P192L|SELENBP1_uc001exz.2_Missense_Mutation_p.P192L|SELENBP1_uc010pcz.1_Missense_Mutation_p.P233L|SELENBP1_uc009wms.2_Missense_Mutation_p.P131L|SELENBP1_uc009wmt.2_Missense_Mutation_p.P192L|SELENBP1_uc001eya.2_Missense_Mutation_p.P231L|SELENBP1_uc009wmu.2_Missense_Mutation_p.P192L	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	295					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	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)			CACTTTCTTGGGGGGCACCTG	0.547													A	151338282	G	A	151338282	3	1	286	1	0	0	0	0	1	0	0	0	14014	1232	43	4	554	4	SELENBP1	1	151338282	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	1553060	151338282	97912339	7	147012											
CHRNB2	1141	broad.mit.edu	37	chr1	154542274	154542274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctccctgcagcatgagCgggagcagatcatgaccacc	10	15	1	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:154542274C>T	uc001ffg.2	+	3	481	c.217C>T	c.(217-219)CGG>TGG	p.R73W		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	73	Extracellular (Potential).				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				0	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)	GCAGCATGAGCGGGAGCAGAT	0.607													T	154542274	C	T	154542274	3	4	286	1	0	0	0	0	1	0	0	0	3391	759	27	1	227	1	CHRNB2	1	154542274	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	3203992	154542274	94708347	8	147013											
IGSF8	93185	broad.mit.edu	37	chr1	160062789	160062789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccgggtcccagaccctcGaacataggctttggcgaggc	13	13	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:160062789G>A	uc001fva.2	-	4	1282	c.1237C>T	c.(1237-1239)CGA>TGA	p.R413*	IGSF8_uc001fuz.2_Nonsense_Mutation_p.R413*|IGSF8_uc009wtf.2_Nonsense_Mutation_p.R413*	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	413	Ig-like C2-type 3.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	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)			CCAGACCCTCGAACATAGGCT	0.652													A	160062789	G	A	160062789	4	1	286	1	0	0	0	0	0	1	0	0	7604	1066	37	1	616	1	IGSF8	1	160062789	Nonsense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	5520515	160062789	89187832	9	147014											
PIK3C2B	5287	broad.mit.edu	37	chr1	204401491	204401491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattatggatgaaaaaattgAgctttgtggctacactgccc	10	7	0	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:204401491A>G	uc001haw.2	-	28	4471	c.3992T>C	c.(3991-3993)CTC>CCC	p.L1331P	PIK3C2B_uc010pqv.1_Missense_Mutation_p.L1303P	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1331	PI3K/PI4K.				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			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	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)			GAAAAAATTGAGCTTTGTGGC	0.502													G	204401491	A	G	204401491	3	3	286	1	0	0	0	0	1	0	0	0	11910	304	11	3	940	3	PIK3C2B	1	204401491	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08	44338702	204401491	44849130	10	147015											
OR1C1	26188	broad.mit.edu	37	chr1	247921378	247921378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacacacagaaggaggctgtCcatattcacaaaagaaacga	8	10	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr1:247921378C>A	uc010pza.1	-	1	331	c.331G>T	c.(331-333)GAC>TAC	p.D111Y		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			AGGAGGCTGTCCATATTCACA	0.478													A	247921378	C	A	247921378	3	1	286	1	0	0	0	0	1	0	0	0	10952	855	30	5	615	5	OR1C1	1	247921378	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	43519887	247921378	1329243	11	147016											
E2F6	1876	broad.mit.edu	37	chr2	11587867	11587867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatagacatcgataggtcCgttggtgctccttatgtgca	10	9	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr2:11587867C>T	uc002rbh.2	-	6	977	c.685G>A	c.(685-687)GGA>AGA	p.G229R	E2F6_uc002rbe.2_Missense_Mutation_p.G154R|E2F6_uc002rbf.2_Missense_Mutation_p.G197R|E2F6_uc002rbg.2_Missense_Mutation_p.G154R|E2F6_uc002rbi.2_Missense_Mutation_p.G154R|E2F6_uc010yjl.1_RNA	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	229	Transcription repression.			G -> E (in Ref. 8; AAC14694).	negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TCGATAGGTCCGTTGGTGCTC	0.433													T	11587867	C	T	11587867	3	4	286	1	0	0	0	0	1	0	0	0	4871	661	23	1	168	1	E2F6	2	11587867	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		11587867	231611506	12	147017											
CAD	790	broad.mit.edu	37	chr2	27440776	27440776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggtcggctaccccgaGgccctcaccgatccctccta	10	18	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr2:27440776G>T	uc002rji.2	+	2	276	c.114G>T	c.(112-114)GAG>GAT	p.E38D	CAD_uc010eyw.2_Missense_Mutation_p.E38D	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	38	GATase (Glutamine amidotransferase).				'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			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTACCCCGAGGCCCTCACCG	0.587													T	27440776	G	T	27440776	3	4	286	1	0	0	0	0	1	0	0	0	2565	991	35	5	120	5	CAD	2	27440776	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	15852909	27440776	215758597	13	147018											
MSH2	4436	broad.mit.edu	37	chr2	47657028	47657028	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagattgttaccgactctaTcagggtataaatcaactacc	6	10	3	1	rs63750132		TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr2:47657028T>G	uc002rvy.1	+	7	1292	c.1224T>G	c.(1222-1224)TAT>TAG	p.Y408*	MSH2_uc010yoh.1_Nonsense_Mutation_p.Y342*|MSH2_uc002rvz.2_Nonsense_Mutation_p.Y408*|MSH2_uc010fbg.2_Nonsense_Mutation_p.Y218*	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	408					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.?(1)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACCGACTCTATCAGGGTATAA	0.348			D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				G	47657028	T	G	47657028	4	3	286	1	0	0	0	0	0	1	0	0	9870	1442	50	5	1250	5	MSH2	2	47657028	Nonsense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08	20216252	47657028	195542345	14	147019											
NRXN1	9378	broad.mit.edu	37	chr2	50280681	50280681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggccctgctctttccCgccaattattatggttgctt	10	12	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr2:50280681C>T	uc010fbp.2	-	4	1468	c.661G>A	c.(661-663)GGG>AGG	p.G221R	NRXN1_uc002rxb.3_Missense_Mutation_p.G958R|NRXN1_uc010fbq.2_Missense_Mutation_p.G1326R|NRXN1_uc002rxe.3_Missense_Mutation_p.G1256R	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	221	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCTCTTTCCCGCCAATTATT	0.448													T	50280681	C	T	50280681	3	4	286	1	0	0	0	0	1	0	0	0	10665	652	23	1	679	1	NRXN1	2	50280681	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	2623653	50280681	192918692	15	147020											
IL18R1	8809	broad.mit.edu	37	chr2	102992506	102992506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatatcaccaaaaccttcaAtataacaatagtggaaggta	5	7	2	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr2:102992506A>G	uc002tbw.3	+	5	758	c.608A>G	c.(607-609)AAT>AGT	p.N203S	IL18R1_uc010ywc.1_Missense_Mutation_p.N203S|IL18R1_uc010ywd.1_Missense_Mutation_p.N48S|IL18R1_uc010fiy.2_Missense_Mutation_p.N203S	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	203	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						AAAACCTTCAATATAACAATA	0.338													G	102992506	A	G	102992506	3	3	286	1	0	0	0	0	1	0	0	0	7647	101	4	3	622	3	IL18R1	2	102992506	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08	52711825	102992506	140206867	16	147021											
OSBPL6	114880	broad.mit.edu	37	chr2	179197640	179197640	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcatgggtctccaaactgCgacatcatcggttgtatcgt	10	10	2	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr2:179197640C>T	uc002ulx.2	+	8	907	c.529C>T	c.(529-531)CGA>TGA	p.R177*	OSBPL6_uc002ulw.2_Nonsense_Mutation_p.R177*|OSBPL6_uc002uly.2_Nonsense_Mutation_p.R177*|OSBPL6_uc010zfe.1_Nonsense_Mutation_p.R177*|OSBPL6_uc002ulz.2_Nonsense_Mutation_p.R177*|OSBPL6_uc002uma.2_Nonsense_Mutation_p.R156*	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	177	PH.				lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTCCAAACTGCGACATCATCG	0.433													T	179197640	C	T	179197640	4	4	286	1	0	0	0	0	0	1	0	0	11281	760	27	1	594	1	OSBPL6	2	179197640	Nonsense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	76205134	179197640	64001733	17	147022											
TTN	7273	broad.mit.edu	37	chr2	179669352	179669352	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaacggctgcgtaaacgtCggtgcttgagttgtcatctt	12	8	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr2:179669352C>T	uc002und.2	-	2	243	c.18G>A	c.(16-18)CCG>CCA	p.P6P	TTN_uc010zfg.1_Silent_p.P6P|TTN_uc010zfh.1_Silent_p.P6P|TTN_uc010zfi.1_Silent_p.P6P|TTN_uc010zfj.1_Silent_p.P6P|TTN_uc002unb.2_Silent_p.P6P			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	6							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGTAAACGTCGGTGCTTGAG	0.463													T	179669352	C	T	179669352	2	4	286	1	0	0	0	0	0	0	0	1	16732	871	31	1		1	TTN	2	179669352	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	471712	179669352	63530021	18	147023											
BAP1	8314	broad.mit.edu	37	chr3	52443593	52443593	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacatttgctctgaaggtcGtagatctcctccacttgcac	8	12	2	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr3:52443593G>T	uc003ddx.2	-	3	214	c.99C>A	c.(97-99)TAC>TAA	p.Y33*	PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	33					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			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				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)		TCTGAAGGTCGTAGATCTCCT	0.612			N|Mis|F|S|O		uveal melanoma|breast|NSCLC								T	52443593	G	T	52443593	4	4	286	1	0	0	0	0	0	1	0	0	1311	1140	40	5	2150	5	BAP1	3	52443593	Nonsense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08		52443593	145578837	19	147024											
LRIG1	26018	broad.mit.edu	37	chr3	66436708	66436708	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggctgggtgatgatctGtggcttcaggaagtcatctg	14	7	5	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr3:66436708G>A	uc003dmx.2	-	13	1500	c.1486C>T	c.(1486-1488)CAG>TAG	p.Q496*	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Nonsense_Mutation_p.Q116*|LRIG1_uc003dmw.2_Nonsense_Mutation_p.Q162*|LRIG1_uc010hnz.2_Nonsense_Mutation_p.Q212*|LRIG1_uc010hoa.2_Nonsense_Mutation_p.Q520*	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	496	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTGATGATCTGTGGCTTCAGG	0.537													A	66436708	G	A	66436708	4	1	286	1	0	0	0	0	0	1	0	0	8944	1386	48	4	1823	4	LRIG1	3	66436708	Nonsense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	13993115	66436708	131585722	20	147025											
KIAA2018	205717	broad.mit.edu	37	chr3	113376724	113376724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattaaccgttgcaggcaCagttgtttgctctgaagttg	11	8	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr3:113376724C>T	uc003eam.2	-	7	4216	c.3805G>A	c.(3805-3807)GTG>ATG	p.V1269M	KIAA2018_uc003eal.2_Missense_Mutation_p.V1213M	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1269					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						GTTGCAGGCACAGTTGTTTGC	0.468													T	113376724	C	T	113376724	3	4	286	1	0	0	0	0	1	0	0	0	8268	478	17	4	2936	4	KIAA2018	3	113376724	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	46940016	113376724	84645706	21	147026											
STAG1	10274	broad.mit.edu	37	chr3	136096538	136096538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtattaacattagacaggcaCtgctggcaaacagccaaaaa	8	9	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr3:136096538C>A	uc003era.1	-	23	2626	c.2334G>T	c.(2332-2334)CAG>CAT	p.Q778H	STAG1_uc003erb.1_Missense_Mutation_p.Q778H|STAG1_uc003erc.1_Missense_Mutation_p.Q552H	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	778					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						TAGACAGGCACTGCTGGCAAA	0.358													A	136096538	C	A	136096538	3	1	286	1	0	0	0	0	1	0	0	0	15241	564	20	5	1490	5	STAG1	3	136096538	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	22719814	136096538	61925892	22	147027											
CEP70	80321	broad.mit.edu	37	chr3	138248265	138248265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccagatttctgtagtcGttttcttcttctgactgact	7	10	4	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr3:138248265G>A	uc003esl.2	-	9	930	c.732C>T	c.(730-732)AAC>AAT	p.N244N	CEP70_uc011bmk.1_Silent_p.N224N|CEP70_uc011bml.1_Silent_p.N226N|CEP70_uc011bmm.1_Silent_p.N92N|CEP70_uc003esm.2_Silent_p.N244N	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	244					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1						TTCTGTAGTCGTTTTCTTCTT	0.289													A	138248265	G	A	138248265	2	1	286	1	0	0	0	0	0	0	0	1	3259	1136	40	1		1	CEP70	3	138248265	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	2151727	138248265	59774165	23	147028											
RSRC1	51319	broad.mit.edu	37	chr3	157920896	157920896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctccgttctcatagtcGtagcagtgaaaggtccagtc	10	11	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr3:157920896G>T	uc003fbt.2	+	4	467	c.356G>T	c.(355-357)CGT>CTT	p.R119L	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R119L|RSRC1_uc003fbv.2_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	119	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTCATAGTCGTAGCAGTGAA	0.378													T	157920896	G	T	157920896	3	4	286	1	0	0	0	0	1	0	0	0	13714	1145	40	5	366	5	RSRC1	3	157920896	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	19672631	157920896	40101534	24	147029											
FXR1	8087	broad.mit.edu	37	chr3	180685947	180685947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagacagccgacatcagcGtgacagcaggagacgcccag	13	13	1	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr3:180685947G>A	uc003fkq.2	+	14	1329	c.1307G>A	c.(1306-1308)CGT>CAT	p.R436H	FXR1_uc003fkp.2_Missense_Mutation_p.R351H|FXR1_uc003fkr.2_Missense_Mutation_p.R436H|FXR1_uc011bqj.1_Missense_Mutation_p.R350H|FXR1_uc003fks.2_Missense_Mutation_p.R379H|FXR1_uc011bqk.1_Missense_Mutation_p.R387H|FXR1_uc011bql.1_Missense_Mutation_p.R423H	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	436					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CGACATCAGCGTGACAGCAGG	0.547													A	180685947	G	A	180685947	3	1	286	1	0	0	0	0	1	0	0	0	6115	1145	40	1	1361	1	FXR1	3	180685947	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	22765051	180685947	17336483	25	147030											
MFSD7	84179	broad.mit.edu	37	chr4	680390	680390	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatggggtggataccacgagGtagaccagtgacagccagtt	14	8	0	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr4:680390G>C	uc003gay.2	-	2	282	c.225C>G	c.(223-225)TAC>TAG	p.Y75*	MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Nonsense_Mutation_p.Y75*|MFSD7_uc003gaz.2_Nonsense_Mutation_p.Y53*|MFSD7_uc003gba.2_Nonsense_Mutation_p.Y75*|MFSD7_uc003gbb.1_Nonsense_Mutation_p.Y11*	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	75	Helical; (Potential).				transmembrane transport	integral to membrane					0						ATACCACGAGGTAGACCAGTG	0.627													C	680390	G	C	680390	4	2	286	1	0	0	0	0	0	1	0	0	9537	1256	44	5	1490	5	MFSD7	4	680390	Nonsense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08		680390	190473886	26	147031											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984892	41984892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtactctgcctccgaggaCgacattcccagcgtggcctt	10	16	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr4:41984892C>T	uc003gwk.2	+	1	1180	c.1083C>T	c.(1081-1083)GAC>GAT	p.D361D		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	361										skin(1)	1						CCTCCGAGGACGACATTCCCA	0.627													T	41984892	C	T	41984892	2	4	286	1	0	0	0	0	0	0	0	1	4271	535	19	1		1	DCAF4L1	4	41984892	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	41304502	41984892	149169384	27	147032											
KCTD8	386617	broad.mit.edu	37	chr4	44450216	44450216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgcagataatccagcaCgtacctgaaaaggaagccgt	10	12	0	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr4:44450216C>T	uc003gwu.2	-	1	609	c.325G>A	c.(325-327)GTG>ATG	p.V109M		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	109	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TAATCCAGCACGTACCTGAAA	0.567										HNSCC(17;0.042)			T	44450216	C	T	44450216	3	4	286	1	0	0	0	0	1	0	0	0	8115	536	19	1	1104	1	KCTD8	4	44450216	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	2465324	44450216	146704060	28	147033											
NEUROG2	63973	broad.mit.edu	37	chr4	113436204	113436204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagcttggcgtcctcgGggaacgtggggagcacctcg	18	10	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr4:113436204G>A	uc003ias.2	-	2	755	c.428C>T	c.(427-429)CCC>CTC	p.P143L		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	143	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGCGTCCTCGGGGAACGTGGG	0.607													A	113436204	G	A	113436204	3	1	286	1	0	0	0	0	1	0	0	0	10353	1232	43	4	394	4	NEUROG2	4	113436204	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	68985988	113436204	77718072	29	147034											
KIAA1109	84162	broad.mit.edu	37	chr4	123192559	123192559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttagccgcagttctagagGaagtcttaatggtggcaata	11	7	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr4:123192559G>A	uc003ieh.2	+	45	7925	c.7880G>A	c.(7879-7881)GGA>GAA	p.G2627E	KIAA1109_uc003iel.1_Missense_Mutation_p.G562E|KIAA1109_uc003iek.2_Missense_Mutation_p.G1246E	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2627					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGTTCTAGAGGAAGTCTTAAT	0.403													A	123192559	G	A	123192559	3	1	286	1	0	0	0	0	1	0	0	0	8208	1174	41	4	8058	4	KIAA1109	4	123192559	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	9756355	123192559	67961717	30	147035											
ZNF827	152485	broad.mit.edu	37	chr4	146686173	146686173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggacagtgtggcatttcTtatgctccagcagctgttcg	13	9	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr4:146686173T>C	uc003ikn.2	-	13	3245	c.3197A>G	c.(3196-3198)AAG>AGG	p.K1066R	ZNF827_uc003ikm.2_Missense_Mutation_p.K1066R|ZNF827_uc010iox.2_Missense_Mutation_p.K716R|ZNF827_uc003ikl.2_Missense_Mutation_p.K151R	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	1066	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					GTGGCATTTCTTATGCTCCAG	0.493													C	146686173	T	C	146686173	3	2	286	1	0	0	0	0	1	0	0	0	18177	1609	56	3	40	3	ZNF827	4	146686173	Missense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08	23493614	146686173	44468103	31	147036											
EDNRA	1909	broad.mit.edu	37	chr4	148463689	148463689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacctcggtccccatgaaCggaacaagcatccagtggaa	10	12	0	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr4:148463689C>T	uc003iky.2	+	8	1895	c.1203C>T	c.(1201-1203)AAC>AAT	p.N401N	EDNRA_uc011cid.1_Silent_p.N176N|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Silent_p.N292N	NM_001957	NP_001948	P25101	EDNRA_HUMAN	endothelin receptor type A isoform a precursor	401	Cytoplasmic (Potential).				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			ovary(1)|breast(1)	2	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TCCCCATGAACGGAACAAGCA	0.532													T	148463689	C	T	148463689	2	4	286	1	0	0	0	0	0	0	0	1	4919	535	19	1		1	EDNRA	4	148463689	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	1777516	148463689	42690587	32	147037											
LMBRD2	92255	broad.mit.edu	37	chr5	36137532	36137532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcatatgactgcataaaaGgtaagagaatcctagatgga	10	5	0	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr5:36137532G>A	uc003jkb.1	-	5	795	c.380C>T	c.(379-381)CCT>CTT	p.P127L		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	127	Cytoplasmic (Potential).					integral to membrane					0	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)			CTGCATAAAAGGTAAGAGAAT	0.333													A	36137532	G	A	36137532	3	1	286	1	0	0	0	0	1	0	0	0	8843	1000	35	4	1763	4	LMBRD2	5	36137532	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08		36137532	144777728	33	147038											
ST8SIA4	7903	broad.mit.edu	37	chr5	100147763	100147763	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatttcatcacagaatcTtgtggcaagtgtatacatga	9	6	3	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr5:100147763T>A	uc003knk.2	-	5	1196	c.868A>T	c.(868-870)AGA>TGA	p.R290*		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	290	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCACAGAATCTTGTGGCAAGT	0.363													A	100147763	T	A	100147763	4	1	286	1	0	0	0	0	0	1	0	0	15233	1617	56	5	215	5	ST8SIA4	5	100147763	Nonsense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08	64010231	100147763	80767497	34	147039											
PCDHB10	56126	broad.mit.edu	37	chr5	140573656	140573656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatcaacgcggacaacGgccacctgttcgccctcagg	9	17	3	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr5:140573656G>A	uc003lix.2	+	1	1705	c.1531G>A	c.(1531-1533)GGC>AGC	p.G511S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	511	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGACAACGGCCACCTGTT	0.692													A	140573656	G	A	140573656	3	1	286	1	0	0	0	0	1	0	0	0	11535	1116	39	1	1533	1	PCDHB10	5	140573656	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	40425893	140573656	40341604	35	147040											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769437	140769437	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacgttgcacctggtcttCgccgacagcttgcaggaggt	13	13	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr5:140769437C>T	uc003lkc.1	+	1	1986	c.1986C>T	c.(1984-1986)TTC>TTT	p.F662F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.F662F	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	662	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGTCTTCGCCGACAGCT	0.657													T	140769437	C	T	140769437	2	4	286	1	0	0	0	0	0	0	0	1	11565	883	31	1		1	PCDHGB4	5	140769437	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	195781	140769437	40145823	36	147041											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788444	140788444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccaccaagaagtgccacCgctcacatagaaatttctgt	7	13	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr5:140788444C>T	uc003lkj.1	+	1	675	c.675C>T	c.(673-675)ACC>ACT	p.T225T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.T225T	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	225	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTGCCACCGCTCACATAG	0.473													T	140788444	C	T	140788444	2	4	286	1	0	0	0	0	0	0	0	1	11567	639	23	1		1	PCDHGB6	5	140788444	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	19007	140788444	40126816	37	147042											
ZNF346	23567	broad.mit.edu	37	chr5	176468802	176468802	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaaacatgccaacaaagtGaagagatacctagcaatcca	6	9	0	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr5:176468802G>A	uc003mfi.2	+	3	346	c.303G>A	c.(301-303)GTG>GTA	p.V101V	ZNF346_uc011dfr.1_Intron|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Silent_p.V126V|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	zinc finger protein 346	101	Matrin-type 1.					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding				0	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			CCAACAAAGTGAAGAGATACC	0.413													A	176468802	G	A	176468802	2	1	286	1	0	0	0	0	0	0	0	1	17857	1277	45	4		4	ZNF346	5	176468802	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	35680358	176468802	4446458	38	147043											
CDC5L	988	broad.mit.edu	37	chr6	44376302	44376302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacacttttgtctgagtacaAtgtcaccaacaacagcgttg	7	10	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr6:44376302A>G	uc003oxl.2	+	8	1284	c.1025A>G	c.(1024-1026)AAT>AGT	p.N342S		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	342	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			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGAGTACAATGTCACCAAC	0.453													G	44376302	A	G	44376302	3	3	286	1	0	0	0	0	1	0	0	0	3082	101	4	3	1055	3	CDC5L	6	44376302	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08		44376302	126738765	39	147044											
MANEA	79694	broad.mit.edu	37	chr6	96034725	96034725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaccctagaatagccaAgaattatccacaagggagac	10	9	0	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr6:96034725A>G	uc003poo.1	+	2	550	c.410A>G	c.(409-411)AAG>AGG	p.K137R	MANEA_uc003pon.2_Missense_Mutation_p.K137R	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	137	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		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)		AGAATAGCCAAGAATTATCCA	0.398													G	96034725	A	G	96034725	3	3	286	1	0	0	0	0	1	0	0	0	9221	72	3	3	412	3	MANEA	6	96034725	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08	51658423	96034725	75080342	40	147045											
GHRHR	2692	broad.mit.edu	37	chr7	31018824	31018824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagtggaccacgccttccCgctcggcggcaaaggtgctg	13	14	0	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr7:31018824C>T	uc003tbx.2	+	13	1285	c.1237C>T	c.(1237-1239)CGC>TGC	p.R413C	GHRHR_uc003tby.2_Missense_Mutation_p.R349C|GHRHR_uc003tbz.2_3'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	413	Cytoplasmic (Potential).				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			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	CACGCCTTCCCGCTCGGCGGC	0.602													T	31018824	C	T	31018824	3	4	286	1	0	0	0	0	1	0	0	0	6373	652	23	1	1327	1	GHRHR	7	31018824	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		31018824	128119839	41	147046											
MAGI2	9863	broad.mit.edu	37	chr7	77789453	77789453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgcaggctgtgggaggCgaagccttcagggggagagg	21	7	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr7:77789453C>T	uc003ugx.2	-	16	2988	c.2734G>A	c.(2734-2736)GCC>ACC	p.A912T	MAGI2_uc003ugy.2_Missense_Mutation_p.A898T|MAGI2_uc010ldx.1_Missense_Mutation_p.A505T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	912						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTGGGAGGCGAAGCCTTCA	0.577													T	77789453	C	T	77789453	3	4	286	1	0	0	0	0	1	0	0	0	9191	768	27	1	1661	1	MAGI2	7	77789453	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	46770629	77789453	81349210	42	147047											
PCLO	27445	broad.mit.edu	37	chr7	82579844	82579844	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaagctgtggtggttgcatCttcagttgcccaaaattgac	11	8	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr7:82579844C>A	uc003uhx.2	-	6	10349	c.10060G>T	c.(10060-10062)GAT>TAT	p.D3354Y	PCLO_uc003uhv.2_Missense_Mutation_p.D3354Y|PCLO_uc010lec.2_Missense_Mutation_p.D319Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3285					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTGGTTGCATCTTCAGTTGCC	0.483													A	82579844	C	A	82579844	3	1	286	1	0	0	0	0	1	0	0	0	11583	913	32	5	5465	5	PCLO	7	82579844	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	4790391	82579844	76558819	43	147048											
SLC26A4	5172	broad.mit.edu	37	chr7	107314680	107314680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgacgaacactttctcGtatccagcagcaatggaact	7	15	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr7:107314680G>A	uc003vep.2	+	5	711	c.487G>A	c.(487-489)GTA>ATA	p.V163I		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	163	Extracellular (Potential).				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			ovary(3)|central_nervous_system(2)|skin(2)	7						ACACTTTCTCGTATCCAGCAG	0.453									Pendred_syndrome				A	107314680	G	A	107314680	3	1	286	1	0	0	0	0	1	0	0	0	14519	1145	40	1	501	1	SLC26A4	7	107314680	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	24734836	107314680	51823983	44	147049											
NUP205	23165	broad.mit.edu	37	chr7	135304191	135304191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactggatgatgaagctgcGcaagagttaatgcctgtggt	13	6	0	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr7:135304191G>A	uc003vsw.2	+	29	4015	c.3984G>A	c.(3982-3984)GCG>GCA	p.A1328A	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1328					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						ATGAAGCTGCGCAAGAGTTAA	0.443													A	135304191	G	A	135304191	2	1	286	1	0	0	0	0	0	0	0	1	10759	1074	38	1		1	NUP205	7	135304191	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	27989511	135304191	23834472	45	147050											
FGF20	26281	broad.mit.edu	37	chr8	16850819	16850819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgcattcggaagtaAgtttctcctgaaagagagaa	10	5	1	4			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr8:16850819A>G	uc003wxc.1	-	3	531	c.398T>C	c.(397-399)CTT>CCT	p.L133P	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Silent_p.T98T	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	133					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TTCGGAAGTAAGTTTCTCCTG	0.323													G	16850819	A	G	16850819	3	3	286	1	0	0	0	0	1	0	0	0	5849	72	3	3	241	3	FGF20	8	16850819	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08		16850819	129513203	46	147051											
POP1	10940	broad.mit.edu	37	chr8	99135655	99135655	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctggctttgtggctgacagAggtgtaaagcaccacagtgg	14	8	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr8:99135655A>T	uc003yij.3	+	2	190	c.90A>T	c.(88-90)AGA>AGT	p.R30S	POP1_uc011lgv.1_Missense_Mutation_p.R30S|POP1_uc003yik.2_Missense_Mutation_p.R30S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	30					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGGCTGACAGAGGTGTAAAGC	0.353													T	99135655	A	T	99135655	3	4	286	1	0	0	0	0	1	0	0	0	12251	301	11	5	92	5	POP1	8	99135655	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08	82284836	99135655	47228367	47	147052											
RIMS2	9699	broad.mit.edu	37	chr8	104898126	104898126	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaccacaaaccatagtccTcctacccccaggaggagtcc	8	16	0	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr8:104898126T>C	uc003yls.2	+	2	874	c.633T>C	c.(631-633)CCT>CCC	p.P211P	RIMS2_uc003ylp.2_Silent_p.P433P|RIMS2_uc003ylw.2_Silent_p.P241P|RIMS2_uc003ylq.2_Silent_p.P241P|RIMS2_uc003ylr.2_Silent_p.P241P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	464					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCATAGTCCTCCTACCCCCA	0.488										HNSCC(12;0.0054)			C	104898126	T	C	104898126	2	2	286	1	0	0	0	0	0	0	0	1	13368	1538	54	3		3	RIMS2	8	104898126	Silent	SNP	T	TCGA-IN-7808-01A-11D-2201-08	5762471	104898126	41465896	48	147053											
OC90	729330	broad.mit.edu	37	chr8	133044144	133044144	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtctaggtcatcccTtggctcgcctcttccttctt	6	15	4	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr8:133044144T>G	uc003ytg.2	-	11	1015	c.1015A>C	c.(1015-1017)AGG>CGG	p.R339R	OC90_uc011lix.1_Silent_p.R339R	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	355	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGGTCATCCCTTGGCTCGCCT	0.557													G	133044144	T	G	133044144	2	3	286	1	0	0	0	0	0	0	0	1	10814	1608	56	5		5	OC90	8	133044144	Silent	SNP	T	TCGA-IN-7808-01A-11D-2201-08	28146018	133044144	13319878	49	147054											
TRPM6	140803	broad.mit.edu	37	chr9	77354315	77354315	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtatggtttgtggtttcacTtggttgaaggtatagatcaa	13	3	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr9:77354315T>A	uc004ajl.1	-	35	5776	c.5538A>T	c.(5536-5538)CAA>CAT	p.Q1846H	TRPM6_uc004ajk.1_Missense_Mutation_p.Q1841H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.Q797H|TRPM6_uc010mpd.1_Missense_Mutation_p.Q679H|TRPM6_uc010mpe.1_Missense_Mutation_p.Q393H|TRPM6_uc004ajj.1_Missense_Mutation_p.Q802H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1846	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GTGGTTTCACTTGGTTGAAGG	0.388													A	77354315	T	A	77354315	3	1	286	1	0	0	0	0	1	0	0	0	16587	1606	56	5	550	5	TRPM6	9	77354315	Missense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08		77354315	63859116	50	147055											
PTPDC1	138639	broad.mit.edu	37	chr9	96864034	96864034	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttttttattagagaagGtaaagtggctgtaggaccag	11	5	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr9:96864034G>A	uc004auf.1	+	8	2377	c.2037_splice	c.e8+1	p.K679_splice	PTPDC1_uc004aug.1_Splice_Site_p.K674_splice|PTPDC1_uc004auh.1_Splice_Site_p.K731_splice|PTPDC1_uc010mrj.1_Splice_Site_p.K733_splice	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1								protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						ATTAGAGAAGGTAAAGTGGCT	0.413													A	96864034	G	A	96864034	5	1	286	1	0	0	0	0	0	0	1	0	12773	1275	44	4	2306	4	PTPDC1	9	96864034	Splice_Site	SNP	G	TCGA-IN-7808-01A-11D-2201-08	19509719	96864034	44349397	51	147056											
IKBKAP	8518	broad.mit.edu	37	chr9	111674597	111674597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattatctcccacgctcCggtcagtcgtccagtgccaa	8	14	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr9:111674597C>T	uc004bdm.3	-	11	1656	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	IKBKAP_uc004bdl.2_Missense_Mutation_p.R30Q|IKBKAP_uc011lwc.1_Missense_Mutation_p.R265Q|IKBKAP_uc010mtq.2_Missense_Mutation_p.R30Q	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	379					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			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						TCCCACGCTCCGGTCAGTCGT	0.542													T	111674597	C	T	111674597	3	4	286	1	0	0	0	0	1	0	0	0	7610	652	23	1	2970	1	IKBKAP	9	111674597	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	14810563	111674597	29538834	52	147057											
PDCL	5082	broad.mit.edu	37	chr9	125588916	125588916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgttaactgagatgccttCgcctgccagctcagcctctg	10	13	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr9:125588916C>T	uc004bmz.1	-	2	247	c.151G>A	c.(151-153)GAA>AAA	p.E51K	PDCL_uc004bna.2_Missense_Mutation_p.E51K	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	51					signal transduction|visual perception						0						GAGATGCCTTCGCCTGCCAGC	0.463													T	125588916	C	T	125588916	3	4	286	1	0	0	0	0	1	0	0	0	11626	893	31	1	766	1	PDCL	9	125588916	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	13914319	125588916	15624515	53	147058											
LAMC3	10319	broad.mit.edu	37	chr9	133960933	133960933	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaagctgcagtttccccgGcccaaggaccaggcggcatt	12	13	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr9:133960933G>T	uc004caa.1	+	25	4151	c.4053G>T	c.(4051-4053)CGG>CGT	p.R1351R	LAMC3_uc010mze.1_Intron	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1351	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGTTTCCCCGGCCCAAGGACC	0.627													T	133960933	G	T	133960933	2	4	286	1	0	0	0	0	0	0	0	1	8616	1190	42	5		5	LAMC3	9	133960933	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	8372017	133960933	7252498	54	147059											
TRDMT1	1787	broad.mit.edu	37	chr10	17199614	17199614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgatttttcctgtgaAtttcttctgcagtttcaagc	7	8	3	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr10:17199614A>C	uc001iop.2	-	8	761	c.713T>G	c.(712-714)ATT>AGT	p.I238S	TRDMT1_uc001ioq.2_Missense_Mutation_p.I214S|TRDMT1_uc001ior.2_Missense_Mutation_p.I192S|TRDMT1_uc001ios.2_Missense_Mutation_p.I167S|TRDMT1_uc009xjt.2_Missense_Mutation_p.I157S|TRDMT1_uc010qcc.1_Missense_Mutation_p.I167S|TRDMT1_uc010qcd.1_Missense_Mutation_p.I115S	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	238					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1						TTTCCTGTGAATTTCTTCTGC	0.353													C	17199614	A	C	17199614	3	2	286	1	0	0	0	0	1	0	0	0	16464	101	4	5	478	5	TRDMT1	10	17199614	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08		17199614	118335133	55	147060											
HECTD2	143279	broad.mit.edu	37	chr10	93244365	93244365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatttccacctataacaaAgtgttcctggtggattccat	7	9	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr10:93244365A>G	uc001khl.2	+	9	1023	c.923A>G	c.(922-924)AAG>AGG	p.K308R	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.K312R|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	308					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						CCTATAACAAAGTGTTCCTGG	0.363													G	93244365	A	G	93244365	3	3	286	1	0	0	0	0	1	0	0	0	7040	72	3	3	981	3	HECTD2	10	93244365	Missense_Mutation	SNP	A	TCGA-IN-7808-01A-11D-2201-08	76044751	93244365	42290382	56	147061											
CWF19L1	55280	broad.mit.edu	37	chr10	101997883	101997883	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccttatacttctccacctCttctaccacctctgctgaaa	4	16	4	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr10:101997883C>A	uc001kqq.1	-	11	1237	c.1150G>T	c.(1150-1152)GAG>TAG	p.E384*	CWF19L1_uc001kqs.1_Nonsense_Mutation_p.E136*|CWF19L1_uc001kqr.1_Nonsense_Mutation_p.E384*|CWF19L1_uc001kqt.1_Nonsense_Mutation_p.E88*|CWF19L1_uc010qpn.1_Nonsense_Mutation_p.E247*|SNORA12_uc001kqu.1_5'Flank	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	384							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TTCTCCACCTCTTCTACCACC	0.488													A	101997883	C	A	101997883	4	1	286	1	0	0	0	0	0	1	0	0	4071	922	32	5	482	5	CWF19L1	10	101997883	Nonsense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	8753518	101997883	33536864	57	147062											
OR51G2	81282	broad.mit.edu	37	chr11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggaaggtagcagaaaCgctgctgctgctgtttccca	12	11	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr11:4936857C>T	uc001lzr.1	-	1	37	c.37G>A	c.(37-39)GTT>ATT	p.V13I		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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)		GTAGCAGAAACGCTGCTGCTG	0.557													T	4936857	C	T	4936857	3	4	286	1	0	0	0	0	1	0	0	0	11099	536	19	1	911	1	OR51G2	11	4936857	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		4936857	130069659	58	147063											
OR52A5	390054	broad.mit.edu	37	chr11	5152993	5152993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggtcttcactccatagaCaatagggttgagaaaaggtg	11	7	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr11:5152993C>A	uc010qyx.1	-	1	880	c.880G>T	c.(880-882)GTC>TTC	p.V294F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	294	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		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)		ACTCCATAGACAATAGGGTTG	0.378													A	5152993	C	A	5152993	3	1	286	1	0	0	0	0	1	0	0	0	11110	478	17	5	73	5	OR52A5	11	5152993	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	216136	5152993	129853523	59	147064											
HBG2	3048	broad.mit.edu	37	chr11	5275585	5275585	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcactcagctgggcaaaggtGcccttgagatcatccaggtg	12	11	3	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr11:5275585G>C	uc001mai.1	-	2	689	c.252C>G	c.(250-252)GGC>GGG	p.G84G	HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Silent_p.G84G	NM_000559	NP_000550	P69892	HBG2_HUMAN	A-gamma globin	84					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			skin(1)	1		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)		GGGCAAAGGTGCCCTTGAGAT	0.522													C	5275585	G	C	5275585	2	2	286	1	0	0	0	0	0	0	0	1	6983	1306	46	5		5	HBG2	11	5275585	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	122592	5275585	129730931	60	147065											
OR4A47	403253	broad.mit.edu	37	chr11	48510956	48510956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggccaatggaggactggcTtgcactattgtgtttctgct	13	8	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr11:48510956T>C	uc010rhx.1	+	1	612	c.612T>C	c.(610-612)GCT>GCC	p.A204A		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAGGACTGGCTTGCACTATTG	0.438													C	48510956	T	C	48510956	2	2	286	1	0	0	0	0	0	0	0	1	11042	1596	56	3		3	OR4A47	11	48510956	Silent	SNP	T	TCGA-IN-7808-01A-11D-2201-08	43235371	48510956	86495560	61	147066											
OR8I2	120586	broad.mit.edu	37	chr11	55861250	55861250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgataggcttcacaagctCgctgatatctgtctgggtga	12	8	3	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr11:55861250C>T	uc010rix.1	+	1	467	c.467C>T	c.(466-468)TCG>TTG	p.S156L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					TTCACAAGCTCGCTGATATCT	0.433													T	55861250	C	T	55861250	3	4	286	1	0	0	0	0	1	0	0	0	11240	893	31	1	469	1	OR8I2	11	55861250	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	7350294	55861250	79145266	62	147067											
TECTA	7007	broad.mit.edu	37	chr11	120998499	120998499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcttcagccactactccGtgtgcacaagcagctgcccc	9	17	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr11:120998499G>A	uc010rzo.1	+	8	1813	c.1813G>A	c.(1813-1815)GTG>ATG	p.V605M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	605	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	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)		CCACTACTCCGTGTGCACAAG	0.637													A	120998499	G	A	120998499	3	1	286	1	0	0	0	0	1	0	0	0	15744	1145	40	1	1843	1	TECTA	11	120998499	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	65137249	120998499	14008017	63	147068											
IGSF9B	22997	broad.mit.edu	37	chr11	133794727	133794727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaatacctgtgctggagaCgccggcgatgttgctgggct	14	10	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr11:133794727C>T	uc001qgx.3	-	15	2338	c.2107G>A	c.(2107-2109)GTC>ATC	p.V703I	IGSF9B_uc001qgy.1_Missense_Mutation_p.V545I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	703	Fibronectin type-III 2.|Extracellular (Potential).					integral to membrane|plasma membrane					0	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)		GTGCTGGAGACGCCGGCGATG	0.562													T	133794727	C	T	133794727	3	4	286	1	0	0	0	0	1	0	0	0	7606	536	19	1	1962	1	IGSF9B	11	133794727	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	12796228	133794727	1211789	64	147069											
CD163L1	283316	broad.mit.edu	37	chr12	7531888	7531888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcctcagctccatatccGatgcatctgaaaccaaatac	5	14	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr12:7531888G>A	uc001qsy.2	-	9	2083	c.2057C>T	c.(2056-2058)TCG>TTG	p.S686L	CD163L1_uc010sge.1_Missense_Mutation_p.S696L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	686	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CTCCATATCCGATGCATCTGA	0.463													A	7531888	G	A	7531888	3	1	286	1	0	0	0	0	1	0	0	0	2968	1059	37	1	2348	1	CD163L1	12	7531888	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08		7531888	126320007	65	147070											
FAM90A1	55138	broad.mit.edu	37	chr12	8374923	8374923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaggcaagcctgaatcGgagccggggcagatctcttg	14	10	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr12:8374923G>A	uc001qui.2	-	7	1449	c.890C>T	c.(889-891)CCG>CTG	p.P297L	FAM90A1_uc001quh.2_Missense_Mutation_p.P297L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	297							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		AGCCTGAATCGGAGCCGGGGC	0.642													A	8374923	G	A	8374923	3	1	286	1	0	0	0	0	1	0	0	0	5650	1116	39	1	508	1	FAM90A1	12	8374923	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	843035	8374923	125476972	66	147071											
KRT6C	286887	broad.mit.edu	37	chr12	52865203	52865203	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatggtggagatgcttActgcatcatacaaggctctc	12	8	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr12:52865203A>T	uc001sal.3	-	4	960	c.912_splice	c.e4+1	p.A304_splice		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C						cytoskeleton organization	keratin filament	structural molecule activity	p.?(1)		ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GGAGATGCTTACTGCATCATA	0.463													T	52865203	A	T	52865203	5	4	286	1	0	0	0	0	0	0	1	0	8482	405	14	5	804	5	KRT6C	12	52865203	Splice_Site	SNP	A	TCGA-IN-7808-01A-11D-2201-08	44490280	52865203	80986692	67	147072											
KRT4	3851	broad.mit.edu	37	chr12	53207428	53207428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgaggagcttgatctgttCgcgctcttccgtccggactt	12	11	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr12:53207428C>T	uc001saz.2	-	1	908	c.637G>A	c.(637-639)GAA>AAA	p.E213K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	139						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						TTGATCTGTTCGCGCTCTTCC	0.567													T	53207428	C	T	53207428	3	4	286	1	0	0	0	0	1	0	0	0	8477	893	31	1	1183	1	KRT4	12	53207428	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	342225	53207428	80644467	68	147073											
NOC4L	79050	broad.mit.edu	37	chr12	132635872	132635872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcacgtcaagtaccgCgcccgcttcttccacctggc	8	17	4	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr12:132635872C>T	uc001ujz.1	+	11	1073	c.1032C>T	c.(1030-1032)CGC>CGT	p.R344R		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	344					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCAAGTACCGCGCCCGCTTCT	0.657													T	132635872	C	T	132635872	2	4	286	1	0	0	0	0	0	0	0	1	10515	755	27	1		1	NOC4L	12	132635872	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	79428444	132635872	1216023	69	147074											
GOLGA3	2802	broad.mit.edu	37	chr12	133381458	133381458	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggtcagtcatggctcgctCcaggtcccagcacgactgct	11	15	2	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr12:133381458C>G	uc001ukz.1	-	7	2000	c.1441G>C	c.(1441-1443)GAG>CAG	p.E481Q	GOLGA3_uc001ula.1_Missense_Mutation_p.E481Q|GOLGA3_uc001ulb.2_Missense_Mutation_p.E481Q	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	481	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)		ATGGCTCGCTCCAGGTCCCAG	0.622													G	133381458	C	G	133381458	3	3	286	1	0	0	0	0	1	0	0	0	6554	864	30	5	3265	5	GOLGA3	12	133381458	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	745586	133381458	470437	70	147075											
PABPC3	5042	broad.mit.edu	37	chr13	25670716	25670716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcttttggtaacatcctttCgtgtaacgtggtttgtgatg	11	6	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr13:25670716C>T	uc001upy.2	+	1	441	c.380C>T	c.(379-381)TCG>TTG	p.S127L		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	127	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		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)		AACATCCTTTCGTGTAACGTG	0.368													T	25670716	C	T	25670716	3	4	286	1	0	0	0	0	1	0	0	0	11365	893	31	1	382	1	PABPC3	13	25670716	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		25670716	89499162	71	147076											
FAM123A	219287	broad.mit.edu	37	chr13	25745314	25745314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcgagggagcccccGccgggccctgcggctctggg	18	16	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr13:25745314G>A	uc001uqb.2	-	1	544	c.444C>T	c.(442-444)GGC>GGT	p.G148G	FAM123A_uc001uqa.2_Silent_p.G148G|FAM123A_uc001uqc.2_Silent_p.G148G	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	148	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		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)		GGGAGCCCCCGCCGGGCCCTG	0.567													A	25745314	G	A	25745314	2	1	286	1	0	0	0	0	0	0	0	1	5422	1074	38	1		1	FAM123A	13	25745314	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	74598	25745314	89424564	72	147077											
EPSTI1	94240	broad.mit.edu	37	chr13	43543271	43543271	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaccggtttagctctgttcTgctccttccacttctccagg	8	14	3	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr13:43543271T>A	uc001uyw.1	-	3	366	c.290A>T	c.(289-291)CAG>CTG	p.Q97L	EPSTI1_uc001uyx.1_Missense_Mutation_p.Q97L	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	97	Potential.									ovary(1)	1		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)		AGCTCTGTTCTGCTCCTTCCA	0.532													A	43543271	T	A	43543271	3	1	286	1	0	0	0	0	1	0	0	0	5198	1580	55	5	986	5	EPSTI1	13	43543271	Missense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08	17797957	43543271	71626607	73	147078											
TNFSF13B	10673	broad.mit.edu	37	chr13	108959245	108959245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatgcacaaatatcactgGatggagatgtcacatttttt	7	6	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr13:108959245G>A	uc001vqr.2	+	6	1084	c.817G>A	c.(817-819)GAT>AAT	p.D273N	TNFSF13B_uc010agj.2_Missense_Mutation_p.D254N	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	273	Extracellular (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			AATATCACTGGATGGAGATGT	0.383													A	108959245	G	A	108959245	3	1	286	1	0	0	0	0	1	0	0	0	16303	1174	41	4	839	4	TNFSF13B	13	108959245	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	65415974	108959245	6210633	74	147079											
RNASE9	390443	broad.mit.edu	37	chr14	21024673	21024673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgttcaggtggctccaCgagatcatttatagtatgag	11	7	3	2	rs149710160		TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr14:21024673C>A	uc010aho.2	-	4	715	c.556G>T	c.(556-558)GTG>TTG	p.V186L	RNASE9_uc001vxq.3_Missense_Mutation_p.V191L|RNASE9_uc010ahp.2_Missense_Mutation_p.V191L|RNASE9_uc010ahq.2_Missense_Mutation_p.V191L|RNASE9_uc010ahr.2_Missense_Mutation_p.V191L|RNASE9_uc010ahs.2_Missense_Mutation_p.V186L|RNASE9_uc010aht.2_Missense_Mutation_p.V186L|RNASE9_uc010ahu.2_Missense_Mutation_p.V186L	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	186						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GGTGGCTCCACGAGATCATTT	0.428													A	21024673	C	A	21024673	3	1	286	1	0	0	0	0	1	0	0	0	13410	536	19	5	65	5	RNASE9	14	21024673	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		21024673	86324867	75	147080											
FANCM	57697	broad.mit.edu	37	chr14	45645902	45645903	+	Frame_Shift_Ins	INS	-	-	A													atttgccactgagtgcagcaINSaaaaatgaagaattgttatc							TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr14:45645901_45645902C>CA	uc001wwd.4	+	13	4043_4044	c.3944_3945C>CA	c.(3943-3945)gcafs	p.A1315fs	FANCM_uc010anf.3_Frame_Shift_Ins_p.A1289fs|FANCM_uc001wwe.4_Frame_Shift_Ins_p.A851fs|FANCM_uc010ang.3_Frame_Shift_Ins_p.A529fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1315					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin 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						CTGAGTGCAGCAAAAAATGAAG	0.327								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45645903	-	A	45645902	7	5	286	1	0	1	1	0	0	0	0	0	5671	117	5	0	3999	0	FANCM	14	45645902	Frame_Shift_Ins	INS	-	TCGA-IN-7808-01A-11D-2201-08	24621229	45645902	61703638	76	147081											
FRMD6	122786	broad.mit.edu	37	chr14	52186866	52186866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccagcgggagcagtgCgggcagcatgaaacacaagc	17	11	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr14:52186866C>T	uc001wzd.2	+	11	1403	c.1118C>T	c.(1117-1119)GCG>GTG	p.A373V	FRMD6_uc001wzb.2_Missense_Mutation_p.A365V|FRMD6_uc001wzc.2_Missense_Mutation_p.A365V|FRMD6_uc001wze.2_Missense_Mutation_p.A296V|FRMD6_uc001wzf.2_Missense_Mutation_p.A66V|FRMD6_uc001wzg.2_Missense_Mutation_p.A15V	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	373						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GGGAGCAGTGCGGGCAGCATG	0.607													T	52186866	C	T	52186866	3	4	286	1	0	0	0	0	1	0	0	0	6054	768	27	1	1132	1	FRMD6	14	52186866	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	6540964	52186866	55162674	77	147082											
DDHD1	80821	broad.mit.edu	37	chr14	53560062	53560062	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcccagtttttgggtaacTgttcttgcaattttagatgt	8	6	1	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr14:53560062T>C	uc001xai.2	-	3	1343	c.1113A>G	c.(1111-1113)ACA>ACG	p.T371T	DDHD1_uc001xaj.2_Silent_p.T378T|DDHD1_uc001xah.2_Silent_p.T371T|DDHD1_uc001xag.2_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	371					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					TTTGGGTAACTGTTCTTGCAA	0.333													C	53560062	T	C	53560062	2	2	286	1	0	0	0	0	0	0	0	1	4326	1567	55	3		3	DDHD1	14	53560062	Silent	SNP	T	TCGA-IN-7808-01A-11D-2201-08	1373196	53560062	53789478	78	147083											
ZFYVE1	53349	broad.mit.edu	37	chr14	73441486	73441486	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctcccaggtcccacgttaCctaactggacgttcctggct	9	15	0	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr14:73441486C>G	uc001xnm.2	-	10	2627	c.1987_splice	c.e10+1	p.A663_splice	ZFYVE1_uc001xnl.2_Splice_Site_p.A248_splice|ZFYVE1_uc010arj.2_Splice_Site_p.A649_splice	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1							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			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCCCACGTTACCTAACTGGAC	0.602													G	73441486	C	G	73441486	5	3	286	1	0	0	0	0	0	0	1	0	17660	521	18	5	357	5	ZFYVE1	14	73441486	Splice_Site	SNP	C	TCGA-IN-7808-01A-11D-2201-08	19881424	73441486	33908054	79	147084											
SERPINA5	5104	broad.mit.edu	37	chr14	95053780	95053780	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgccaccacccccgggagatGaagaagagagtcgaggacct	13	13	0	4			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr14:95053780G>A	uc001ydm.2	+	3	291	c.81G>A	c.(79-81)ATG>ATA	p.M27I	SERPINA5_uc010ave.2_Missense_Mutation_p.M27I|SERPINA5_uc001ydn.1_Missense_Mutation_p.M27I	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	27					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCCGGGAGATGAAGAAGAGAG	0.612													A	95053780	G	A	95053780	3	1	286	1	0	0	0	0	1	0	0	0	14092	1290	45	4	83	4	SERPINA5	14	95053780	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	21612294	95053780	12295760	80	147085											
MNS1	55329	broad.mit.edu	37	chr15	56726358	56726358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgcaaggaattgttggCgacgctcttcaataagtttt	10	7	3	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr15:56726358C>T	uc002adr.2	-	8	1412	c.1247G>A	c.(1246-1248)CGC>CAC	p.R416H	MNS1_uc010bfo.2_Missense_Mutation_p.R284H|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	416					meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GAATTGTTGGCGACGCTCTTC	0.348													T	56726358	C	T	56726358	3	4	286	1	0	0	0	0	1	0	0	0	9677	768	27	1	252	1	MNS1	15	56726358	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		56726358	45805034	81	147086											
TMEM202	338949	broad.mit.edu	37	chr15	72691142	72691142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcgccatgtccccacTgaactgggtacagtttctgg	11	12	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr15:72691142T>G	uc002auq.2	+	2	230	c.230T>G	c.(229-231)CTG>CGG	p.L77R	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	77						integral to membrane				central_nervous_system(1)|skin(1)	2						ATGTCCCCACTGAACTGGGTA	0.532													G	72691142	T	G	72691142	3	3	286	1	0	0	0	0	1	0	0	0	16124	1580	55	5	236	5	TMEM202	15	72691142	Missense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08	15964784	72691142	29840250	82	147087											
CD276	80381	broad.mit.edu	37	chr15	73996565	73996565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccaacaaggacctgcGgccaggggacacggtgacca	15	13	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr15:73996565G>A	uc002avv.1	+	6	1355	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	CD276_uc010bjd.1_Missense_Mutation_p.R228Q|CD276_uc002avu.1_Missense_Mutation_p.R374Q|CD276_uc002avw.1_Missense_Mutation_p.R156Q|CD276_uc010ulb.1_Missense_Mutation_p.R320Q|CD276_uc002avx.2_RNA	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	374	Extracellular (Potential).|Ig-like C2-type 2.				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			skin(1)	1						AAGGACCTGCGGCCAGGGGAC	0.652													A	73996565	G	A	73996565	3	1	286	1	0	0	0	0	1	0	0	0	2992	1116	39	1	1139	1	CD276	15	73996565	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	1305423	73996565	28534827	83	147088											
RASGRF1	5923	broad.mit.edu	37	chr15	79296145	79296145	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgacggcatggccactcactCtgcttgctgagcgctgaagg	13	13	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr15:79296145C>G	uc002beq.2	-	16	2871	c.2496G>C	c.(2494-2496)CAG>CAC	p.Q832H	RASGRF1_uc002bep.2_Missense_Mutation_p.Q816H|RASGRF1_uc010blm.1_Missense_Mutation_p.Q741H|RASGRF1_uc002ber.3_Missense_Mutation_p.Q816H|RASGRF1_uc010unh.1_Missense_Mutation_p.Q227H|RASGRF1_uc002beo.2_Missense_Mutation_p.Q48H	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	834					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			skin(4)|ovary(1)|central_nervous_system(1)	6						GCCACTCACTCTGCTTGCTGA	0.627													G	79296145	C	G	79296145	3	3	286	1	0	0	0	0	1	0	0	0	13072	927	32	5	1377	5	RASGRF1	15	79296145	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	5299580	79296145	23235247	84	147089											
ASB7	140460	broad.mit.edu	37	chr15	101169989	101169989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtttcctgttgcgatacGccgtgatcaaaagcaatcac	9	10	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr15:101169989G>A	uc002bwk.2	+	5	1328	c.559G>A	c.(559-561)GCC>ACC	p.A187T	ASB7_uc002bwj.2_Missense_Mutation_p.A187T	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	187	ANK 6.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GTTGCGATACGCCGTGATCAA	0.483													A	101169989	G	A	101169989	3	1	286	1	0	0	0	0	1	0	0	0	1028	1087	38	1	565	1	ASB7	15	101169989	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	21873844	101169989	1361403	85	147090											
OR4F6	390648	broad.mit.edu	37	chr15	102346572	102346572	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttttaattctcataatctCttacatctttattttggtga	3	6	3	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr15:102346572C>T	uc010utr.1	+	1	650	c.650C>T	c.(649-651)TCT>TTT	p.S217F		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCATAATCTCTTACATCTTT	0.368													T	102346572	C	T	102346572	3	4	286	1	0	0	0	0	1	0	0	0	11066	913	32	4	652	4	OR4F6	15	102346572	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	1176583	102346572	184820	86	147091											
WFIKKN1	117166	broad.mit.edu	37	chr16	683929	683930	+	Frame_Shift_Ins	INS	-	-	T													gctggtcatcatgggtgaggINStgcgcgatggcgtggccgtg							TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr16:683929_683930insT	uc002cht.1	+	2	1761_1762	c.1519_1520insT	c.(1519-1521)GTGfs	p.V507fs	WFIKKN1_uc002chs.1_3'UTR|uc010uuk.1_5'Flank	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	507	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				CATGGGTGAGGTGCGCGATGGC	0.683													T	683930	-	T	683929	7	5	286	1	0	1	1	0	0	0	0	0	17355	1261	44	0	1525	0	WFIKKN1	16	683929	Frame_Shift_Ins	INS	-	TCGA-IN-7808-01A-11D-2201-08		683929	89670824	87	147092											
PKD1	5310	broad.mit.edu	37	chr16	2161261	2161261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcgtggggatgcaggCggcgggttcaacgcgcagca	19	10	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr16:2161261C>T	uc002cos.1	-	15	4116	c.3907G>A	c.(3907-3909)GCC>ACC	p.A1303T	PKD1_uc002cot.1_Missense_Mutation_p.A1303T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1303	PKD 8.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						GGGATGCAGGCGGCGGGTTCA	0.706													T	2161261	C	T	2161261	3	4	286	1	0	0	0	0	1	0	0	0	11963	768	27	1	9132	1	PKD1	16	2161261	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	1477332	2161261	88193492	88	147093											
ALG1	56052	broad.mit.edu	37	chr16	5125503	5125503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatgggtctggtgcatGgccccaaccatcccctcgtt	9	16	2	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr16:5125503G>A	uc002cym.2	+	4	546	c.505G>A	c.(505-507)GGC>AGC	p.G169S	ALG1_uc002cyj.2_Missense_Mutation_p.G58S|ALG1_uc002cyn.2_Missense_Mutation_p.G169S|ALG1_uc010bue.2_Missense_Mutation_p.G58S|ALG1_uc010uxy.1_Missense_Mutation_p.G58S	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	169	Lumenal (Potential).				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			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				TCTGGTGCATGGCCCCAACCA	0.542													A	5125503	G	A	5125503	3	1	286	1	0	0	0	0	1	0	0	0	510	1348	47	4	519	4	ALG1	16	5125503	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	2964242	5125503	85229250	89	147094											
CHD9	80205	broad.mit.edu	37	chr16	53321899	53321899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagaatacaaacctgcCccagccatctttaaagatga	6	12	1	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr16:53321899C>T	uc002ehb.2	+	26	5384	c.5220C>T	c.(5218-5220)GCC>GCT	p.A1740A	CHD9_uc002egy.2_Silent_p.A1740A|CHD9_uc002ehc.2_Silent_p.A1740A|CHD9_uc002ehf.2_Silent_p.A854A|CHD9_uc010cbw.2_Silent_p.A108A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1740					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACAAACCTGCCCCAGCCATCT	0.323													T	53321899	C	T	53321899	2	4	286	1	0	0	0	0	0	0	0	1	3332	610	22	4		4	CHD9	16	53321899	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	48196396	53321899	37032854	90	147095											
CDH1	999	broad.mit.edu	37	chr16	68845649	68845649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgaacacctacaatgccGccatcgcttacaccatcctc	5	16	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr16:68845649G>T	uc002ewg.1	+	7	1019	c.895G>T	c.(895-897)GCC>TCC	p.A299S	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.A299S	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	299	Cadherin 2.|Extracellular (Potential).				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			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		CTACAATGCCGCCATCGCTTA	0.502			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				T	68845649	G	T	68845649	3	4	286	1	0	0	0	0	1	0	0	0	3095	1087	38	5	921	5	CDH1	16	68845649	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	15523750	68845649	21509104	91	147096											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			T	7577538	C	T	7577538	3	4	286	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		7577538	73617672	92	147097											
MYH4	4622	broad.mit.edu	37	chr17	10369949	10369949	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccttagggtccaccacaaaGactgatgtcttggcatcaaa	8	11	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr17:10369949G>T	uc002gmn.2	-	3	225	c.114C>A	c.(112-114)GTC>GTA	p.V38V	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	38	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			ovary(10)|skin(2)|central_nervous_system(1)	13						CCACCACAAAGACTGATGTCT	0.507													T	10369949	G	T	10369949	2	4	286	1	0	0	0	0	0	0	0	1	10037	929	33	5		5	MYH4	17	10369949	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	2792411	10369949	70825261	93	147098											
NCOR1	9611	broad.mit.edu	37	chr17	15989742	15989742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attagttatcacttgatgtgGagcaggctgaaggactttta	11	5	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr17:15989742G>A	uc002gpo.2	-	23	3271	c.3031C>T	c.(3031-3033)CCA>TCA	p.P1011S	NCOR1_uc002gpn.2_Missense_Mutation_p.P1027S|NCOR1_uc002gpp.1_Missense_Mutation_p.P918S|NCOR1_uc002gpq.1_Missense_Mutation_p.P103S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1011	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			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACTTGATGTGGAGCAGGCTGA	0.443													A	15989742	G	A	15989742	3	1	286	1	0	0	0	0	1	0	0	0	10235	1174	41	4	4387	4	NCOR1	17	15989742	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	5619793	15989742	65205468	94	147099											
EFTUD2	9343	broad.mit.edu	37	chr17	42931680	42931680	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggttccccactggaaaccTtgaacgatgctgtccttcac	8	14	1	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr17:42931680T>G	uc002ihn.2	-	23	2565	c.2304A>C	c.(2302-2304)CAA>CAC	p.Q768H	EFTUD2_uc010wje.1_Missense_Mutation_p.Q733H|EFTUD2_uc010wjf.1_Missense_Mutation_p.Q758H	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	768						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ACTGGAAACCTTGAACGATGC	0.562													G	42931680	T	G	42931680	3	3	286	1	0	0	0	0	1	0	0	0	4961	1606	56	5	638	5	EFTUD2	17	42931680	Missense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08	26941938	42931680	38263530	95	147100											
KIAA1267	284058	broad.mit.edu	37	chr17	44249491	44249491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcgtcagtgagagCgggcgccatcgcagccattc	14	13	1	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr17:44249491C>T	uc002ikb.2	-	1	104	c.19G>A	c.(19-21)GCT>ACT	p.A7T	KIAA1267_uc002ikc.2_Missense_Mutation_p.A7T|KIAA1267_uc002ikd.2_Missense_Mutation_p.A7T|KIAA1267_uc010dav.2_Missense_Mutation_p.A7T	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	7						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				TCAGTGAGAGCGGGCGCCATC	0.622													T	44249491	C	T	44249491	3	4	286	1	0	0	0	0	1	0	0	0	8219	768	27	1	3354	1	KIAA1267	17	44249491	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	1317811	44249491	36945719	96	147101											
EPX	8288	broad.mit.edu	37	chr17	56270828	56270828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggacagttgttcgggcCgcagattatatgcatgtggc	13	9	0	1	rs138191637		TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr17:56270828C>T	uc002ivq.2	+	3	353	c.267C>T	c.(265-267)GCC>GCT	p.A89A		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	89					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						TTGTTCGGGCCGCAGATTATA	0.572													T	56270828	C	T	56270828	2	4	286	1	0	0	0	0	0	0	0	1	5200	639	23	1		1	EPX	17	56270828	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	12021337	56270828	24924382	97	147102											
LAMA1	284217	broad.mit.edu	37	chr18	7037734	7037734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtcggtgaccagccacCcggacatactgtttacctta	8	13	1	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr18:7037734C>G	uc002knm.2	-	12	1674	c.1580G>C	c.(1579-1581)GGG>GCG	p.G527A	LAMA1_uc010wzj.1_Missense_Mutation_p.G3A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	527	Laminin IV type A 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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCAGCCACCCGGACATACT	0.453													G	7037734	C	G	7037734	3	3	286	1	0	0	0	0	1	0	0	0	8605	623	22	5	7855	5	LAMA1	18	7037734	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		7037734	71039514	98	147103											
ESCO1	114799	broad.mit.edu	37	chr18	19110421	19110421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagcaatttcttctttGctcaaatatgagccatatat	6	7	3	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr18:19110421G>C	uc002kth.1	-	12	3340	c.2406C>G	c.(2404-2406)AGC>AGG	p.S802R	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	802					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TTTCTTCTTTGCTCAAATATG	0.333													C	19110421	G	C	19110421	3	2	286	1	0	0	0	0	1	0	0	0	5248	1310	46	5	120	5	ESCO1	18	19110421	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	12072687	19110421	58966827	99	147104											
ZNF521	25925	broad.mit.edu	37	chr18	22671939	22671939	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcagactggacacttgaaGgtgcctcccatcccttcgaa	9	13	0	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr18:22671939G>T	uc002kvk.2	-	6	4012	c.3765C>A	c.(3763-3765)ACC>ACA	p.T1255T	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.T1255T|ZNF521_uc002kvl.2_Silent_p.T1035T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1255					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GACACTTGAAGGTGCCTCCCA	0.498			T	PAX5	ALL								T	22671939	G	T	22671939	2	4	286	1	0	0	0	0	0	0	0	1	17962	987	35	5		5	ZNF521	18	22671939	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	3561518	22671939	55405309	100	147105											
DSG4	147409	broad.mit.edu	37	chr18	28983413	28983413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctacaggaaccatatgTattgaggttcctgatatcaa	8	8	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr18:28983413T>C	uc002kwq.2	+	11	1587	c.1452T>C	c.(1450-1452)TGT>TGC	p.C484C	DSG4_uc002kwr.2_Silent_p.C484C	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	484	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAACCATATGTATTGAGGTTC	0.388													C	28983413	T	C	28983413	2	2	286	1	0	0	0	0	0	0	0	1	4779	1644	57	3		3	DSG4	18	28983413	Silent	SNP	T	TCGA-IN-7808-01A-11D-2201-08	6311474	28983413	49093835	101	147106											
NEDD4L	23327	broad.mit.edu	37	chr18	55996338	55996338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggagcccgagccctcGgagggcggggatgtccccga	17	13	0	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr18:55996338G>A	uc002lgy.2	+	10	1066	c.792G>A	c.(790-792)TCG>TCA	p.S264S	NEDD4L_uc002lgz.2_Silent_p.S264S|NEDD4L_uc002lgx.2_Silent_p.S264S|NEDD4L_uc010xee.1_Silent_p.S143S|NEDD4L_uc002lhc.2_Silent_p.S256S|NEDD4L_uc002lhd.2_Silent_p.S143S|NEDD4L_uc002lhb.2_Silent_p.S143S|NEDD4L_uc002lhe.2_Silent_p.S256S|NEDD4L_uc002lhf.2_Silent_p.S143S|NEDD4L_uc002lhg.2_Silent_p.S143S|NEDD4L_uc002lhh.2_Silent_p.S143S|NEDD4L_uc010dpm.1_Silent_p.S115S	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	264					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			lung(4)	4						CCGAGCCCTCGGAGGGCGGGG	0.572													A	55996338	G	A	55996338	2	1	286	1	0	0	0	0	0	0	0	1	10311	1103	39	1		1	NEDD4L	18	55996338	Silent	SNP	G	TCGA-IN-7808-01A-11D-2201-08	27012925	55996338	22080910	102	147107											
WDR18	57418	broad.mit.edu	37	chr19	992107	992107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctcactctgcgcctgGgcctccaccagcaggtacgg	14	16	2	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:992107G>A	uc002lqm.1	+	8	1110	c.1084G>A	c.(1084-1086)GGC>AGC	p.G362S	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.G325S|WDR18_uc010dry.1_Missense_Mutation_p.G362S	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	362										skin(1)	1		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)		TCTGCGCCTGGGCCTCCACCA	0.716													A	992107	G	A	992107	3	1	286	1	0	0	0	0	1	0	0	0	17275	1232	43	4	1114	4	WDR18	19	992107	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08		992107	58136876	103	147108											
TUBB4	10382	broad.mit.edu	37	chr19	6496043	6496043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtctgggaactcctcgCggatcttactgatgagcagc	13	11	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:6496043C>T	uc002mfg.1	-	4	574	c.467G>A	c.(466-468)CGC>CAC	p.R156H	TUBB4_uc002mff.1_Missense_Mutation_p.R84H|MIR220B_hsa-mir-220b|MI0005529_RNA	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	156					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GAACTCCTCGCGGATCTTACT	0.637													T	6496043	C	T	6496043	3	4	286	1	0	0	0	0	1	0	0	0	16755	768	27	1	871	1	TUBB4	19	6496043	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	5503936	6496043	52632940	104	147109											
LASS4	79603	broad.mit.edu	37	chr19	8316115	8316115	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctggtcctcctggccaTgcgccttgcctttgagaggt	14	13	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:8316115T>A	uc002mjg.2	+	3	475	c.155T>A	c.(154-156)ATG>AAG	p.M52K	LASS4_uc002mjh.2_Missense_Mutation_p.M1K|LASS4_uc002mji.2_Intron|LASS4_uc010dvz.2_Missense_Mutation_p.M52K	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	52	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						CTCCTGGCCATGCGCCTTGCC	0.622													A	8316115	T	A	8316115	3	1	286	1	0	0	0	0	1	0	0	0	8641	1464	51	5	157	5	LASS4	19	8316115	Missense_Mutation	SNP	T	TCGA-IN-7808-01A-11D-2201-08	1820072	8316115	50812868	105	147110											
ZNF85	7639	broad.mit.edu	37	chr19	21132969	21132969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcaaagcctttaaccagtCctcaaaccttactaaacata	4	12	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:21132969C>T	uc002npg.3	+	4	1776	c.1649C>T	c.(1648-1650)TCC>TTC	p.S550F	ZNF85_uc010ecn.2_Missense_Mutation_p.S485F|ZNF85_uc010eco.2_Missense_Mutation_p.S498F|ZNF85_uc002npi.2_Missense_Mutation_p.S491F	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	550	C2H2-type 15.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TTTAACCAGTCCTCAAACCTT	0.348													T	21132969	C	T	21132969	3	4	286	1	0	0	0	0	1	0	0	0	18190	855	30	4	1663	4	ZNF85	19	21132969	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	12816854	21132969	37996014	106	147111											
ZNF208	7757	broad.mit.edu	37	chr19	22154592	22154592	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcacatttgtagggttcctCtccagcatgagttgccttat	8	10	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:22154592C>A	uc002nqp.2	-	6	3009	c.2860G>T	c.(2860-2862)GAG>TAG	p.E954*	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGGTTCCTCTCCAGCATGA	0.438													A	22154592	C	A	22154592	4	1	286	1	0	0	0	0	0	1	0	0	17763	922	32	5	602	5	ZNF208	19	22154592	Nonsense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	1021623	22154592	36974391	107	147112											
WDR88	126248	broad.mit.edu	37	chr19	33628609	33628609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaattctgagtgggcaCgagcacgctgtgagcacctg	12	9	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:33628609C>T	uc002nui.2	+	2	381	c.303C>T	c.(301-303)CAC>CAT	p.H101H		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	101	WD 1.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TGAGTGGGCACGAGCACGCTG	0.408													T	33628609	C	T	33628609	2	4	286	1	0	0	0	0	0	0	0	1	17332	535	19	1		1	WDR88	19	33628609	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	11474017	33628609	25500374	108	147113											
WDR88	126248	broad.mit.edu	37	chr19	33651380	33651380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgggatgtagcagaagGctaccggaagctctctttga	12	7	1	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:33651380G>A	uc002nui.2	+	8	1136	c.1058G>A	c.(1057-1059)GGC>GAC	p.G353D		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	353	WD 6.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					GTAGCAGAAGGCTACCGGAAG	0.438													A	33651380	G	A	33651380	3	1	286	1	0	0	0	0	1	0	0	0	17332	1203	42	2	1088	2	WDR88	19	33651380	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	22771	33651380	25477603	109	147114											
ZNF382	84911	broad.mit.edu	37	chr19	37118196	37118196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggaaaaaccctatatttGtaatgaatgtgggaagtcct	12	5	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:37118196G>T	uc002oek.2	+	5	1510	c.1397G>T	c.(1396-1398)TGT>TTT	p.C466F	ZNF382_uc010efa.2_Missense_Mutation_p.C417F|ZNF382_uc010efb.2_Missense_Mutation_p.C465F|ZNF382_uc002oel.2_Missense_Mutation_p.C465F	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	466	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCCTATATTTGTAATGAATGT	0.448													T	37118196	G	T	37118196	3	4	286	1	0	0	0	0	1	0	0	0	17870	1377	48	5	1407	5	ZNF382	19	37118196	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	3466816	37118196	22010787	110	147115											
LTBP4	8425	broad.mit.edu	37	chr19	41119862	41119862	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggacctttgccagagcggCatctgtaccaacaccgacgg	12	13	1	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:41119862C>G	uc002ooh.1	+	21	2799	c.2799C>G	c.(2797-2799)GGC>GGG	p.G933G	LTBP4_uc002oog.1_Silent_p.G896G|LTBP4_uc002ooi.1_Silent_p.G866G|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Silent_p.G153G|LTBP4_uc002ool.1_Silent_p.G31G|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	933	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)			GCCAGAGCGGCATCTGTACCA	0.692													G	41119862	C	G	41119862	2	3	286	1	0	0	0	0	0	0	0	1	9076	697	25	5		5	LTBP4	19	41119862	Silent	SNP	C	TCGA-IN-7808-01A-11D-2201-08	4001666	41119862	18009121	111	147116											
NLRP7	199713	broad.mit.edu	37	chr19	55450893	55450893	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctttccaggtcctctcGgtggaacacggacatctgcg	12	13	2	0	rs104895530		TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:55450893G>A	uc002qih.3	-	4	1370	c.1294C>T	c.(1294-1296)CGA>TGA	p.R432*	NLRP7_uc002qig.3_Nonsense_Mutation_p.R432*|NLRP7_uc002qii.3_Nonsense_Mutation_p.R432*|NLRP7_uc010esk.2_Nonsense_Mutation_p.R432*|NLRP7_uc010esl.2_Nonsense_Mutation_p.R460*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	432	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGGTCCTCTCGGTGGAACACG	0.687													A	55450893	G	A	55450893	4	1	286	1	0	0	0	0	0	1	0	0	10482	1124	39	1	1851	1	NLRP7	19	55450893	Nonsense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08	14331031	55450893	3678090	112	147117											
ZNF471	57573	broad.mit.edu	37	chr19	57036978	57036978	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggagagaagccTtatgaatgtattgaatgtgg	11	4	1	3			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:57036978T>G	uc002qnh.2	+	5	1675	c.1542T>G	c.(1540-1542)CCT>CCG	p.P514P		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAGCCTTATGAATGTA	0.373													G	57036978	T	G	57036978	2	3	286	1	0	0	0	0	0	0	0	1	17927	1596	56	5		5	ZNF471	19	57036978	Silent	SNP	T	TCGA-IN-7808-01A-11D-2201-08	1586085	57036978	2092005	113	147118											
ZNF132	7691	broad.mit.edu	37	chr19	58944765	58944765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacactggctacactcataAgtcctttctctggtgtgaac	7	13	2	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr19:58944765A>G	uc002qst.3	-	3	2447	c.2046T>C	c.(2044-2046)ACT>ACC	p.T682T		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		TACACTCATAAGTCCTTTCTC	0.443													G	58944765	A	G	58944765	2	3	286	1	0	0	0	0	0	0	0	1	17719	59	3	3		3	ZNF132	19	58944765	Silent	SNP	A	TCGA-IN-7808-01A-11D-2201-08	1907787	58944765	184218	114	147119											
TGM6	343641	broad.mit.edu	37	chr20	2398117	2398117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcacctcccgggcccagCgggtgagggtcaacctgagc	13	16	2	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr20:2398117C>T	uc002wfy.1	+	10	1637	c.1576C>T	c.(1576-1578)CGG>TGG	p.R526W	TGM6_uc010gal.1_Missense_Mutation_p.R526W	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	526					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CCGGGCCCAGCGGGTGAGGGT	0.647													T	2398117	C	T	2398117	3	4	286	1	0	0	0	0	1	0	0	0	15831	759	27	1	1614	1	TGM6	20	2398117	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		2398117	60627403	115	147120											
SSTR4	6754	broad.mit.edu	37	chr20	23016224	23016224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcggaggcggaggaggCggtggcggggcccggggacg	25	10	0	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr20:23016224C>T	uc002wsr.2	+	1	168	c.104C>T	c.(103-105)GCG>GTG	p.A35V		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	35	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGGAGGAGGCGGTggcgggg	0.612													T	23016224	C	T	23016224	3	4	286	1	0	0	0	0	1	0	0	0	15199	768	27	1	106	1	SSTR4	20	23016224	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	20618107	23016224	40009296	116	147121											
CHMP4B	128866	broad.mit.edu	37	chr20	32436452	32436452	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcggcccatgacaacatgTacgtgtccacccgcccctgc	10	17	0	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr20:32436452T>C	uc002xaa.2	+	2	524	c.368_splice	c.e2+2	p.M123_splice		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	chromatin modifying protein 4B						cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(1)|central_nervous_system(1)	2						TGACAACATGTACGTGTCCAC	0.612													C	32436452	T	C	32436452	5	2	286	1	0	0	0	0	0	0	1	0	3357	1652	57	3	376	3	CHMP4B	20	32436452	Splice_Site	SNP	T	TCGA-IN-7808-01A-11D-2201-08	9420228	32436452	30589068	117	147122											
ARFGEF2	10564	broad.mit.edu	37	chr20	47633918	47633918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttcaaaacaaccatccCacatgtgtaagtgttcatgc	5	10	2	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr20:47633918C>T	uc002xtx.3	+	32	4600	c.4448C>T	c.(4447-4449)CCA>CTA	p.P1483L	ARFGEF2_uc010zyf.1_Missense_Mutation_p.P776L	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	1483					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACAACCATCCCACATGTGTAA	0.373													T	47633918	C	T	47633918	3	4	286	1	0	0	0	0	1	0	0	0	853	594	21	4	4574	4	ARFGEF2	20	47633918	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	15197466	47633918	15391602	118	147123											
ZNF512B	57473	broad.mit.edu	37	chr20	62591290	62591290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccggccggtggagcccCgggcccccttgtctctgcat	12	18	1	0			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr20:62591290C>T	uc002yhl.1	-	17	2684	c.2630G>A	c.(2629-2631)CGG>CAG	p.R877Q		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGTGGAGCCCCGGGCCCCCTT	0.711													T	62591290	C	T	62591290	3	4	286	1	0	0	0	0	1	0	0	0	17954	652	23	1	52	1	ZNF512B	20	62591290	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	14957372	62591290	434230	119	147124											
CSF2RB	1439	broad.mit.edu	37	chr22	37331476	37331476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcttctgtggcatctacGggtacaggtgaggggactct	14	10	3	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr22:37331476G>A	uc003aqa.3	+	11	1616	c.1399G>A	c.(1399-1401)GGG>AGG	p.G467R	CSF2RB_uc003aqc.3_Missense_Mutation_p.G473R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	467	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	TGGCATCTACGGGTACAGGTG	0.662													A	37331476	G	A	37331476	3	1	286	1	0	0	0	0	1	0	0	0	3935	1116	39	1	1437	1	CSF2RB	22	37331476	Missense_Mutation	SNP	G	TCGA-IN-7808-01A-11D-2201-08		37331476	13973090	120	147125											
MICALL1	85377	broad.mit.edu	37	chr22	38323469	38323469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgccctcggccacaccatCgccagcgctcagcgtggaga	12	18	1	1			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chr22:38323469C>T	uc003aui.2	+	9	1601	c.1517C>T	c.(1516-1518)TCG>TTG	p.S506L		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	506	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					GCCACACCATCGCCAGCGCTC	0.677													T	38323469	C	T	38323469	3	4	286	1	0	0	0	0	1	0	0	0	9573	893	31	1	1551	1	MICALL1	22	38323469	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08	991993	38323469	12981097	121	147126											
AFF2	2334	broad.mit.edu	37	chrX	147743964	147743964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctttcaatccaattcacCggaagaatctgaattcgccg	6	11	4	2			TCGA-IN-7808-01A-11D-2201-08	TCGA-IN-7808-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be1f362d-e971-44b7-bcbb-6f9847d2089f	ddee461d-502d-40a9-8be0-9d50824f4199	g.chrX:147743964C>T	uc004fcp.2	+	3	1195	c.716C>T	c.(715-717)CCG>CTG	p.P239L	AFF2_uc004fco.2_Missense_Mutation_p.P235L|AFF2_uc004fcq.2_Missense_Mutation_p.P235L|AFF2_uc004fcr.2_Missense_Mutation_p.P235L|AFF2_uc011mxb.1_Missense_Mutation_p.P239L|AFF2_uc004fcs.2_Missense_Mutation_p.P235L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	239					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAATTCACCGGAAGAATCT	0.453													T	147743964	C	T	147743964	3	4	286	1	0	0	0	0	1	0	0	0	357	652	23	1	726	1	AFF2	23	147743964	Missense_Mutation	SNP	C	TCGA-IN-7808-01A-11D-2201-08		147743964	7526596	122	147127											
KLHL21	9903	broad.mit.edu	37	chr1	6653646	6653646	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctaccacgtccgagagttCaaatgtattgtcgtatcccc	7	13	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:6653646C>A	uc001aoa.2	-	4	1625	c.1573G>T	c.(1573-1575)GAA>TAA	p.E525*	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.2_Nonsense_Mutation_p.E158*	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	525	Kelch 6.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	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)		TCCGAGAGTTCAAATGTATTG	0.607													A	6653646	C	A	6653646	4	1	287	1	0	0	0	0	0	1	0	0	8376	835	29	5	224	5	KLHL21	1	6653646	Nonsense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08		6653646	242596975	1	147128											
AKR7A3	22977	broad.mit.edu	37	chr1	19612421	19612421	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atccagccgttgctcttgcaGagggtacagatctcggccac	11	13	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:19612421G>C	uc001bbv.1	-	3	545	c.468C>G	c.(466-468)CTC>CTG	p.L156L		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	156					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCTTGCAGAGGGTACAGA	0.587													C	19612421	G	C	19612421	2	2	287	1	0	0	0	0	0	0	0	1	476	929	33	5		5	AKR7A3	1	19612421	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	12958775	19612421	229638200	2	147129											
DLGAP3	58512	broad.mit.edu	37	chr1	35370318	35370318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggtgatggtggtgatGggaggtgtgggggcctccag	23	4	0	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:35370318G>T	uc001byc.2	-	1	667	c.667C>A	c.(667-669)CAT>AAT	p.H223N		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	223	Poly-His.				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				tggtggtgatggGAGGTGTGG	0.552													T	35370318	G	T	35370318	3	4	287	1	0	0	0	0	1	0	0	0	4561	1348	47	5	2312	5	DLGAP3	1	35370318	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	15757897	35370318	213880303	3	147130											
ORC1L	4998	broad.mit.edu	37	chr1	52861837	52861837	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgttctgctggggtccaaGaagggctctctgcactctta	11	11	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:52861837G>A	uc001ctt.2	-	5	821	c.602C>T	c.(601-603)TCT>TTT	p.S201F	ORC1L_uc010oni.1_Missense_Mutation_p.S201F|ORC1L_uc001ctu.2_Missense_Mutation_p.S201F|ORC1L_uc009vzd.2_5'UTR	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	201					cell cycle checkpoint|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	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						TGGGGTCCAAGAAGGGCTCTC	0.512													A	52861837	G	A	52861837	3	1	287	1	0	0	0	0	1	0	0	0	11261	942	33	4	2035	4	ORC1L	1	52861837	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	17491519	52861837	196388784	4	147131											
ROR1	4919	broad.mit.edu	37	chr1	64643444	64643444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccccacactctgatgttGgctgcagcagtgatgaagat	11	10	1	4			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:64643444G>A	uc001dbj.2	+	9	2119	c.1720G>A	c.(1720-1722)GGC>AGC	p.G574S	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	574	Cytoplasmic (Potential).|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			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CTCTGATGTTGGCTGCAGCAG	0.483													A	64643444	G	A	64643444	3	1	287	1	0	0	0	0	1	0	0	0	13526	1348	47	4	1762	4	ROR1	1	64643444	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	11781607	64643444	184607177	5	147132											
LRRC8B	23507	broad.mit.edu	37	chr1	90050004	90050004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcagctgtgacctggaaCgcatcccacattccattttc	7	13	1	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:90050004C>T	uc001dni.2	+	7	2302	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	LRRC8B_uc001dnh.2_Missense_Mutation_p.R599C|LRRC8B_uc001dnj.2_Missense_Mutation_p.R599C	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	599	LRR 6.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGACCTGGAACGCATCCCACA	0.403													T	90050004	C	T	90050004	3	4	287	1	0	0	0	0	1	0	0	0	9022	536	19	1	1797	1	LRRC8B	1	90050004	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	25406560	90050004	159200617	6	147133											
FLG	2312	broad.mit.edu	37	chr1	152283559	152283559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cactgtcctggctaacactgGatccctggtgcctgcttgtc	10	14	0	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:152283559G>T	uc001ezu.1	-	3	3839	c.3803C>A	c.(3802-3804)TCC>TAC	p.S1268Y	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1268	Ser-rich.|Filaggrin 7.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAACACTGGATCCCTGGTG	0.468									Ichthyosis				T	152283559	G	T	152283559	3	4	287	1	0	0	0	0	1	0	0	0	5922	1174	41	5	8386	5	FLG	1	152283559	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	62233555	152283559	96967062	7	147134											
FLG	2312	broad.mit.edu	37	chr1	152286203	152286203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctgactgctggtggcCggatccatgtctttctcctg	12	12	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:152286203C>T	uc001ezu.1	-	3	1195	c.1159G>A	c.(1159-1161)GGC>AGC	p.G387S	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	387	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCCGGATCCATGT	0.582									Ichthyosis				T	152286203	C	T	152286203	3	4	287	1	0	0	0	0	1	0	0	0	5922	652	23	1	11030	1	FLG	1	152286203	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	2644	152286203	96964418	8	147135											
IQGAP3	128239	broad.mit.edu	37	chr1	156496382	156496382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaccctcatactggagctGcaggagatcctaggagggaa	12	11	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:156496382G>T	uc001fpf.2	-	38	4867	c.4792C>A	c.(4792-4794)CAG>AAG	p.Q1598K		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1598					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACTGGAGCTGCAGGAGATCC	0.493													T	156496382	G	T	156496382	3	4	287	1	0	0	0	0	1	0	0	0	7816	1328	46	5	107	5	IQGAP3	1	156496382	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	4210179	156496382	92754239	9	147136											
ADCY10	55811	broad.mit.edu	37	chr1	167874377	167874377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttcttttggagtgttcAtgttcaagacaaatgttcag	8	6	5	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:167874377A>G	uc001ger.2	-	2	300	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ADCY10_uc009wvk.2_5'UTR|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.M1T|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TGGAGTGTTCATGTTCAAGAC	0.398													G	167874377	A	G	167874377	3	3	287	1	0	0	0	0	1	0	0	0	293	217	8	3	4958	3	ADCY10	1	167874377	Missense_Mutation	SNP	A	TCGA-IN-8462-01A-11D-2340-08	11377995	167874377	81376244	10	147137											
HMCN1	83872	broad.mit.edu	37	chr1	186114580	186114580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggggaacatgcagccGgacgtgtaacggagggcaga	18	8	0	1	rs141397809		TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:186114580G>A	uc001grq.1	+	92	14541	c.14312G>A	c.(14311-14313)CGG>CAG	p.R4771Q	HMCN1_uc001grs.1_Missense_Mutation_p.R340Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4771	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACATGCAGCCGGACGTGTAAC	0.552													A	186114580	G	A	186114580	3	1	287	1	0	0	0	0	1	0	0	0	7220	1116	39	1	14678	1	HMCN1	1	186114580	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	18240203	186114580	63136041	11	147138											
CFHR3	10878	broad.mit.edu	37	chr1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaccacagttacatgtaCggagaaaggctggtctccta	11	10	1	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:196749062C>T	uc001gtl.2	+	3	476	c.389C>T	c.(388-390)ACG>ATG	p.T130M	CFHR3_uc001gtk.2_Missense_Mutation_p.T130M|CFHR3_uc010poy.1_Missense_Mutation_p.T130M|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	130	Sushi 2.					extracellular space					0						GTTACATGTACGGAGAAAGGC	0.473													T	196749062	C	T	196749062	3	4	287	1	0	0	0	0	1	0	0	0	3286	536	19	1	399	1	CFHR3	1	196749062	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	10634482	196749062	52501559	12	147139											
PM20D1	148811	broad.mit.edu	37	chr1	205817084	205817084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagctaaaagtcactgttGgaatctggatggcacctgtc	11	9	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:205817084G>A	uc001hdj.2	-	2	230	c.185C>T	c.(184-186)CCA>CTA	p.P62L	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	62						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTCACTGTTGGAATCTGGAT	0.403													A	205817084	G	A	205817084	3	1	287	1	0	0	0	0	1	0	0	0	12128	1348	47	4	1371	4	PM20D1	1	205817084	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	9068022	205817084	43433537	13	147140											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743438	234743439	+	Frame_Shift_Ins	INS	-	-	G													tggaatgaggtgaggcagtgINSggtggtggcggagacacaaa							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:234743437_234743438T>TG	uc001hwg.3	-	1	1240_1241	c.1209_1210A>CA	c.(1207-1212)cccactfs	p.P403fs	IRF2BP2_uc009xfw.3_Frame_Shift_Ins_p.P13fs|IRF2BP2_uc001hwf.3_Frame_Shift_Ins_p.P387fs	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GGTGAGGCAGTGGGTGGTGGCG	0.599													G	234743439	-	G	234743438	7	5	287	1	0	1	1	0	0	0	0	0	7830	1335	47	0	558	0	IRF2BP2	1	234743438	Frame_Shift_Ins	INS	-	TCGA-IN-8462-01A-11D-2340-08	28926354	234743438	14507183	14	147141											
FMN2	56776	broad.mit.edu	37	chr1	240371492	240371492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccccctctacccggagCgggcataccccctcctcccc	6	24	1	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr1:240371492C>T	uc010pyd.1	+	5	3605	c.3380C>T	c.(3379-3381)GCG>GTG	p.A1127V	FMN2_uc010pye.1_Missense_Mutation_p.A1131V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1127	Pro-rich.|FH1.				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			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.721													T	240371492	C	T	240371492	3	4	287	1	0	0	0	0	1	0	0	0	5950	768	27	1	3398	1	FMN2	1	240371492	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	5628054	240371492	8879129	15	147142											
TXNDC9	10190	broad.mit.edu	37	chr2	99944024	99944024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtctctgtagaaatgGcaaaccacattttcactctc	8	10	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:99944024G>A	uc002szz.2	-	3	473	c.282C>T	c.(280-282)TGC>TGT	p.C94C	TXNDC9_uc010yvp.1_Silent_p.C111C|TXNDC9_uc002taa.1_Silent_p.C94C	NM_005783	NP_005774	O14530	TXND9_HUMAN	thioredoxin domain containing 9	94	Thioredoxin.				cell redox homeostasis		protein binding				0						TGTAGAAATGGCAAACCACAT	0.378													A	99944024	G	A	99944024	2	1	287	1	0	0	0	0	0	0	0	1	16799	1195	42	2		2	TXNDC9	2	99944024	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08		99944024	143255349	16	147143											
THSD7B	80731	broad.mit.edu	37	chr2	138169203	138169203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagaaagaaggagaaatGccaggattctgacctttacc	10	8	1	4			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:138169203G>A	uc002tva.1	+	13	2627	c.2627G>A	c.(2626-2628)TGC>TAC	p.C876Y	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.C766Y	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGGAGAAATGCCAGGATTCT	0.373													A	138169203	G	A	138169203	3	1	287	1	0	0	0	0	1	0	0	0	15877	1319	46	2	2677	2	THSD7B	2	138169203	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	38225179	138169203	105030170	17	147144											
ZEB2	9839	broad.mit.edu	37	chr2	145162506	145162506	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcgctgaaggtactcctcGatgctgactgcatgaccatc	10	13	0	3	rs138859323	byFrequency	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:145162506G>A	uc002tvu.2	-	5	969	c.489C>T	c.(487-489)ATC>ATT	p.I163I	ZEB2_uc002tvv.2_Silent_p.I157I|ZEB2_uc010zbm.1_Silent_p.I134I|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.I192I	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	163						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGTACTCCTCGATGCTGACTG	0.478													A	145162506	G	A	145162506	2	1	287	1	0	0	0	0	0	0	0	1	17621	1048	37	1		1	ZEB2	2	145162506	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	6993303	145162506	98036867	18	147145											
NEUROD1	4760	broad.mit.edu	37	chr2	182542645	182542645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcctgagaagattgatcCgtggctttgggcccctgcca	14	11	0	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:182542645C>T	uc002uof.2	-	2	1179	c.943G>A	c.(943-945)GGA>AGA	p.G315R	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	315					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGATTGATCCGTGGCTTTGG	0.512													T	182542645	C	T	182542645	3	4	287	1	0	0	0	0	1	0	0	0	10348	661	23	1	131	1	NEUROD1	2	182542645	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	37380139	182542645	60656728	19	147146											
DNAH7	56171	broad.mit.edu	37	chr2	196737066	196737066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacacgggagaaatcacGgaggttgaacaagtagtgag	14	5	1	4			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:196737066G>A	uc002utj.3	-	40	6642	c.6541C>T	c.(6541-6543)CGT>TGT	p.R2181C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2181	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GAGAAATCACGGAGGTTGAAC	0.393													A	196737066	G	A	196737066	3	1	287	1	0	0	0	0	1	0	0	0	4606	1116	39	1	5637	1	DNAH7	2	196737066	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	14194421	196737066	46462307	20	147147											
PLCL1	5334	broad.mit.edu	37	chr2	198948639	198948639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattctcgcatttacaaccGttttttcactctggacacag	5	11	3	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:198948639G>A	uc010fsp.2	+	2	689	c.398G>A	c.(397-399)CGT>CAT	p.R133H	PLCL1_uc002uuv.3_Missense_Mutation_p.R54H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	133	PH.|Interaction with PPP1C.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	ATTTACAACCGTTTTTTCACT	0.443													A	198948639	G	A	198948639	3	1	287	1	0	0	0	0	1	0	0	0	12039	1145	40	1	404	1	PLCL1	2	198948639	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	2211573	198948639	44250734	21	147148											
ERBB4	2066	broad.mit.edu	37	chr2	212248608	212248608	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgttgttcttcaggtacTcagcttttcccaaggtgttg	10	8	3	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:212248608T>G	uc002veg.1	-	28	3757	c.3659A>C	c.(3658-3660)GAG>GCG	p.E1220A	ERBB4_uc002veh.1_Missense_Mutation_p.E1204A|ERBB4_uc010zji.1_Missense_Mutation_p.E1210A|ERBB4_uc010zjj.1_Missense_Mutation_p.E1194A	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1220	Cytoplasmic (Potential).				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		CTTCAGGTACTCAGCTTTTCC	0.502										TSP Lung(8;0.080)			G	212248608	T	G	212248608	3	3	287	1	0	0	0	0	1	0	0	0	5209	1551	54	5	271	5	ERBB4	2	212248608	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	13299969	212248608	30950765	22	147149											
SPEG	10290	broad.mit.edu	37	chr2	220329225	220329225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagggtgggctgtgcCggctgcggatcctggctgca	19	10	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:220329225C>T	uc010fwg.2	+	9	2776	c.2776C>T	c.(2776-2778)CGG>TGG	p.R926W	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.R134W|SPEG_uc002vln.1_Missense_Mutation_p.R134W|SPEG_uc002vlp.1_Missense_Mutation_p.R134W|SPEG_uc002vlq.2_Missense_Mutation_p.R77W	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	926	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		TGGGCTGTGCCGGCTGCGGAT	0.647													T	220329225	C	T	220329225	3	4	287	1	0	0	0	0	1	0	0	0	15035	643	23	1	2810	1	SPEG	2	220329225	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	8080617	220329225	22870148	23	147150											
SLC19A3	80704	broad.mit.edu	37	chr2	228566967	228566967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcatcatggagaaaaaaCcaaataagcagaggatcaca	8	8	3	2	rs121917882		TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr2:228566967C>A	uc002vpi.2	-	2	157	c.68G>T	c.(67-69)GGT>GTT	p.G23V	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_5'UTR	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	23	Helical; (Potential).		G -> V (in BBGD).		thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		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)	GGAGAAAAAACCAAATAAGCA	0.393													A	228566967	C	A	228566967	3	1	287	1	0	0	0	0	1	0	0	0	14430	507	18	5	1442	5	SLC19A3	2	228566967	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	8237742	228566967	14632406	24	147151											
CHL1	10752	broad.mit.edu	37	chr3	407660	407660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttagagtttctcctaAgaatcctcgtatccccaaat	4	11	1	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:407660A>G	uc003bou.2	+	14	1836	c.1565A>G	c.(1564-1566)AAG>AGG	p.K522R	CHL1_uc003bot.2_Missense_Mutation_p.K538R|CHL1_uc003bow.1_Missense_Mutation_p.K522R|CHL1_uc011asi.1_Missense_Mutation_p.K538R|uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	522	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		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)		GTTTCTCCTAAGAATCCTCGT	0.338													G	407660	A	G	407660	3	3	287	1	0	0	0	0	1	0	0	0	3349	72	3	3	1663	3	CHL1	3	407660	Missense_Mutation	SNP	A	TCGA-IN-8462-01A-11D-2340-08		407660	197614770	25	147152											
GRM7	2917	broad.mit.edu	37	chr3	7456790	7456790	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatactgggaggaaaacTtcaactgcaagttgacgatt	10	8	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:7456790T>G	uc003bqm.2	+	5	1388	c.1114T>G	c.(1114-1116)TTC>GTC	p.F372V	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.F372V|GRM7_uc003bql.2_Missense_Mutation_p.F372V|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	372	Extracellular (Potential).				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			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GGAGGAAAACTTCAACTGCAA	0.388													G	7456790	T	G	7456790	3	3	287	1	0	0	0	0	1	0	0	0	6802	1609	56	5	1132	5	GRM7	3	7456790	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	7049130	7456790	190565640	26	147153											
IL17RC	84818	broad.mit.edu	37	chr3	9971770	9971770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagacacgaggcccccaggaCaacagatccctctgtgcctt	10	15	1	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:9971770C>A	uc003bua.2	+	14	1664	c.1428C>A	c.(1426-1428)GAC>GAA	p.D476E	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcs.2_Missense_Mutation_p.D380E|IL17RC_uc003btz.2_Missense_Mutation_p.D405E|IL17RC_uc011atp.1_Missense_Mutation_p.D244E|IL17RC_uc003bud.2_Intron|IL17RC_uc003bub.2_Missense_Mutation_p.D390E|IL17RC_uc010hct.2_Missense_Mutation_p.D405E|IL17RC_uc010hcu.2_Missense_Mutation_p.D388E|IL17RC_uc010hcv.2_Missense_Mutation_p.D373E|IL17RC_uc011atq.1_Missense_Mutation_p.D390E|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_Missense_Mutation_p.D41E	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	476	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GCCCCCAGGACAACAGATCCC	0.587													A	9971770	C	A	9971770	3	1	287	1	0	0	0	0	1	0	0	0	7641	477	17	5	1482	5	IL17RC	3	9971770	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	2514980	9971770	188050660	27	147154											
RFTN1	23180	broad.mit.edu	37	chr3	16475457	16475457	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggggtgcagggccgccagcGagaagccctgctggtacagc	17	12	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:16475457G>T	uc003cay.2	-	3	515	c.233C>A	c.(232-234)TCG>TAG	p.S78*	RFTN1_uc010hes.2_Nonsense_Mutation_p.S42*	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	78						plasma membrane				ovary(3)|central_nervous_system(1)	4						GGCCGCCAGCGAGAAGCCCTG	0.652													T	16475457	G	T	16475457	4	4	287	1	0	0	0	0	0	1	0	0	13258	1059	37	5	1535	5	RFTN1	3	16475457	Nonsense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	6503687	16475457	181546973	28	147155											
GRM2	2912	broad.mit.edu	37	chr3	51749520	51749520	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtcaccatcgcctgcctCggtgccctggccaccctctt	8	20	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:51749520C>T	uc010hlv.2	+	4	1970	c.1731C>T	c.(1729-1731)CTC>CTT	p.L577L	GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	577	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	TCGCCTGCCTCGGTGCCCTGG	0.637													T	51749520	C	T	51749520	2	4	287	1	0	0	0	0	0	0	0	1	6797	871	31	1		1	GRM2	3	51749520	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	35274063	51749520	146272910	29	147156											
POLQ	10721	broad.mit.edu	37	chr3	121228447	121228447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattctctaaaacaaagccCttcattgctctttgcaggtc	5	12	4	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:121228447C>A	uc003eee.3	-	12	2049	c.1920G>T	c.(1918-1920)AAG>AAT	p.K640N		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	640					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			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAACAAAGCCCTTCATTGCTC	0.343								DNA_polymerases_(catalytic_subunits)					A	121228447	C	A	121228447	3	1	287	1	0	0	0	0	1	0	0	0	12208	680	24	5	5928	5	POLQ	3	121228447	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	69478927	121228447	76793983	30	147157											
XRN1	54464	broad.mit.edu	37	chr3	142031582	142031582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgagccaaagagatgagacGacgaaggcattatattagct	11	6	0	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:142031582G>A	uc003eus.2	-	41	4743	c.4676C>T	c.(4675-4677)TCG>TTG	p.S1559L	XRN1_uc010huu.2_Missense_Mutation_p.S1013L|XRN1_uc003eut.2_Missense_Mutation_p.S1546L|XRN1_uc003euu.2_Missense_Mutation_p.S1547L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1559					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			ovary(3)	3						GAGATGAGACGACGAAGGCAT	0.443													A	142031582	G	A	142031582	3	1	287	1	0	0	0	0	1	0	0	0	17456	1059	37	1	452	1	XRN1	3	142031582	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	20803135	142031582	55990848	31	147158											
P2RY1	5028	broad.mit.edu	37	chr3	152554180	152554180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaccatcacctgttaCgacaccacctcagacgagta	5	14	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:152554180C>T	uc003ezq.2	+	1	1445	c.609C>T	c.(607-609)TAC>TAT	p.Y203Y		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	203	Extracellular (Potential).				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			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCACCTGTTACGACACCACCT	0.537													T	152554180	C	T	152554180	2	4	287	1	0	0	0	0	0	0	0	1	11346	547	19	1		1	P2RY1	3	152554180	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	10522598	152554180	45468250	32	147159											
CCDC50	152137	broad.mit.edu	37	chr3	191107374	191107374	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacacggcatttctcaaaatCagagtcctctcataaaggta	6	11	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr3:191107374C>T	uc003fsw.2	+	10	1474	c.884C>T	c.(883-885)TCA>TTA	p.S295L	CCDC50_uc003fsv.2_Missense_Mutation_p.S471L	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	295						cytoplasm	protein binding				0	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)		TTCTCAAAATCAGAGTCCTCT	0.388													T	191107374	C	T	191107374	3	4	287	1	0	0	0	0	1	0	0	0	2820	838	29	4	1454	4	CCDC50	3	191107374	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	38553194	191107374	6915056	33	147160											
SLC9A3	6550	broad.mit.edu	37	chr5	488520	488520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaaacacggccaggaCggccaccgggtccacagccg	11	18	1	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr5:488520C>T	uc003jbe.2	-	3	698	c.586G>A	c.(586-588)GTC>ATC	p.V196I	SLC9A3_uc011clx.1_Missense_Mutation_p.V196I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	196	Helical; Name=F/M5A; (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGGCCAGGACGGCCACCGGG	0.642													T	488520	C	T	488520	3	4	287	1	0	0	0	0	1	0	0	0	14713	536	19	1	1978	1	SLC9A3	5	488520	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08		488520	180426740	34	147161											
ENC1	8507	broad.mit.edu	37	chr5	73931384	73931384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtctaccagatacaaCttgtcacacatgaaagtctg	7	10	4	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr5:73931384C>T	uc003kdc.3	-	2	2058	c.927G>A	c.(925-927)AAG>AAA	p.K309K	ENC1_uc011css.1_Silent_p.K236K	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	309	Kelch 1.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CCAGATACAACTTGTCACACA	0.507													T	73931384	C	T	73931384	2	4	287	1	0	0	0	0	0	0	0	1	5113	564	20	4		4	ENC1	5	73931384	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	73442864	73931384	106983876	35	147162											
DMGDH	29958	broad.mit.edu	37	chr5	78338268	78338268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctttgatgtgttccatgattCgatctagatcagactcaaag	8	8	3	4			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr5:78338268C>A	uc003kfs.2	-	7	1037	c.1031G>T	c.(1030-1032)CGA>CTA	p.R344L	DMGDH_uc011cte.1_Missense_Mutation_p.R194L|DMGDH_uc011ctf.1_Missense_Mutation_p.R143L|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	344					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCCATGATTCGATCTAGATC	0.428													A	78338268	C	A	78338268	3	1	287	1	0	0	0	0	1	0	0	0	4581	884	31	5	1609	5	DMGDH	5	78338268	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	4406884	78338268	102576992	36	147163											
DMXL1	1657	broad.mit.edu	37	chr5	118484637	118484637	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggacttcagagcaatagtAgtataactgtacctggtagg	11	6	1	1	rs149431940	byFrequency	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr5:118484637A>T	uc003ksd.2	+	18	3296	c.3115A>T	c.(3115-3117)AGT>TGT	p.S1039C	DMXL1_uc010jcl.1_Missense_Mutation_p.S1039C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1039										ovary(2)	2		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)		GAGCAATAGTAGTATAACTGT	0.398													T	118484637	A	T	118484637	3	4	287	1	0	0	0	0	1	0	0	0	4594	420	15	5	3185	5	DMXL1	5	118484637	Missense_Mutation	SNP	A	TCGA-IN-8462-01A-11D-2340-08	40146369	118484637	62430623	37	147164											
PCDHB9	56127	broad.mit.edu	37	chr5	140567301	140567301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgccagtgtttcggcacaaaGagatggtcttaaaaatatca	9	8	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr5:140567301G>C	uc003liw.1	+	1	409	c.409G>C	c.(409-411)GAG>CAG	p.E137Q		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	137	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGCACAAAGAGATGGTCTT	0.403													C	140567301	G	C	140567301	3	2	287	1	0	0	0	0	1	0	0	0	11549	943	33	5	411	5	PCDHB9	5	140567301	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	22082664	140567301	40347959	38	147165											
TCERG1	10915	broad.mit.edu	37	chr5	145838886	145838886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaactgctacttcagttgCgcagacagtatcaagtgagt	9	9	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr5:145838886C>T	uc003lob.2	+	4	918	c.878C>T	c.(877-879)GCG>GTG	p.A293V	TCERG1_uc003loc.2_Missense_Mutation_p.A293V|TCERG1_uc011dbt.1_Missense_Mutation_p.A293V	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	293	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		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)			ACTTCAGTTGCGCAGACAGTA	0.463													T	145838886	C	T	145838886	3	4	287	1	0	0	0	0	1	0	0	0	15682	768	27	1	892	1	TCERG1	5	145838886	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	5271585	145838886	35076374	39	147166											
FKSG83	83954	broad.mit.edu	37	chr6	27293549	27293549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattttaaatatgattatttCcccctgcttaccacacagct	3	12	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:27293549C>T	uc010jqt.2	+	1	972	c.488C>T	c.(487-489)TCC>TTC	p.S163F	FKSG83_uc010jqs.1_3'UTR	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN	FKSG83	163						integral to membrane	pheromone receptor activity				0						ATGATTATTTCCCCCTGCTTA	0.294													T	27293549	C	T	27293549	3	4	287	1	0	0	0	0	1	0	0	0	5918	855	30	4	490	4	FKSG83	6	27293549	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08		27293549	143821518	40	147167											
VARS2	57176	broad.mit.edu	37	chr6	30890881	30890881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgattcttcccttccagCgggcgacttgcacctgtcag	9	16	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:30890881C>T	uc003nsc.1	+	23	2818	c.2186C>T	c.(2185-2187)GCG>GTG	p.A729V	VARS2_uc011dmx.1_Missense_Mutation_p.A729V|VARS2_uc011dmy.1_Missense_Mutation_p.A589V|VARS2_uc011dmz.1_Missense_Mutation_p.A759V|VARS2_uc011dna.1_Missense_Mutation_p.A727V|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.A167V|VARS2_uc010jsg.1_Missense_Mutation_p.A101V|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	729					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TCCCTTCCAGCGGGCGACTTG	0.582													T	30890881	C	T	30890881	3	4	287	1	0	0	0	0	1	0	0	0	17121	782	27	1	2370	1	VARS2	6	30890881	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	3597332	30890881	140224186	41	147168											
C6orf27	80737	broad.mit.edu	37	chr6	31733757	31733757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcacagtcaccatcaccAcggaatccggggccgctgaa	10	15	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:31733757A>G	uc011dog.1	-	16	2640	c.2402T>C	c.(2401-2403)GTG>GCG	p.V801A		NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	801						extracellular region				ovary(3)	3						CACCATCACCACGGAATCCGG	0.647													G	31733757	A	G	31733757	3	3	287	1	0	0	0	0	1	0	0	0	2362	159	6	3	280	3	C6orf27	6	31733757	Missense_Mutation	SNP	A	TCGA-IN-8462-01A-11D-2340-08	842876	31733757	139381310	42	147169											
TRERF1	55809	broad.mit.edu	37	chr6	42227349	42227349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcgggttgtaggagggcGgcggcgggatgaagagaggt	23	4	0	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:42227349G>A	uc003osd.2	-	9	2560	c.1997C>T	c.(1996-1998)CCG>CTG	p.P666L	TRERF1_uc011duq.1_Missense_Mutation_p.P583L|TRERF1_uc003osb.2_Missense_Mutation_p.P422L|TRERF1_uc003osc.2_Missense_Mutation_p.P422L|TRERF1_uc003ose.2_Missense_Mutation_p.P686L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	666	Pro-rich.|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			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTAGGAGGGCGGCGGCGGGAT	0.672													A	42227349	G	A	42227349	3	1	287	1	0	0	0	0	1	0	0	0	16472	1116	39	1	1645	1	TRERF1	6	42227349	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	10493592	42227349	128887718	43	147170											
ENPP5	59084	broad.mit.edu	37	chr6	46135702	46135702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaggagaaagatttgttccGaataggatcaaacatatcat	8	6	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:46135702G>A	uc003oxz.1	-	2	506	c.298C>T	c.(298-300)CGG>TGG	p.R100W	ENPP5_uc003oya.1_Missense_Mutation_p.R100W|ENPP5_uc011dvz.1_Missense_Mutation_p.R6W|ENPP5_uc010jzc.1_Missense_Mutation_p.R100W	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	100						extracellular region|integral to membrane	hydrolase activity				0						GATTTGTTCCGAATAGGATCA	0.378													A	46135702	G	A	46135702	3	1	287	1	0	0	0	0	1	0	0	0	5133	1057	37	1	1147	1	ENPP5	6	46135702	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	3908353	46135702	124979365	44	147171											
KIAA1586	57691	broad.mit.edu	37	chr6	56918804	56918804	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcatatcctatattaTatatgcatttttctcattct	4	8	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:56918804T>C	uc003pdj.2	+	4	1677	c.1507T>C	c.(1507-1509)TAT>CAT	p.Y503H	KIAA1586_uc011dxm.1_Missense_Mutation_p.Y476H	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	503							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCCTATATTATATATGCATTT	0.348													C	56918804	T	C	56918804	3	2	287	1	0	0	0	0	1	0	0	0	8245	1406	49	3	1521	3	KIAA1586	6	56918804	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	10783102	56918804	114196263	45	147172											
RIMS1	22999	broad.mit.edu	37	chr6	72678732	72678732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgcaaaacaccaAgaaatgctgaaaaccagccc	7	14	0	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:72678732A>G	uc003pga.2	+	2	288	c.211A>G	c.(211-213)AGA>GGA	p.R71G		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	71	RabBD.				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			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAAACACCAAGAAATGCTGA	0.453													G	72678732	A	G	72678732	3	3	287	1	0	0	0	0	1	0	0	0	13367	64	3	3	217	3	RIMS1	6	72678732	Missense_Mutation	SNP	A	TCGA-IN-8462-01A-11D-2340-08	15759928	72678732	98436335	46	147173											
SNX14	57231	broad.mit.edu	37	chr6	86303411	86303411	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgcttcagcttctgcCccatcgtccgcacccagggc	10	19	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:86303411C>G	uc003pkr.2	-	1	219	c.26G>C	c.(25-27)GGG>GCG	p.G9A	SNX14_uc011dzg.1_Intron|SNX14_uc003pks.2_Missense_Mutation_p.G9A|SNX14_uc003pkt.2_Missense_Mutation_p.G9A	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	9					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		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)		CAGCTTCTGCCCCATCGTCCG	0.672													G	86303411	C	G	86303411	3	3	287	1	0	0	0	0	1	0	0	0	14885	623	22	5	2930	5	SNX14	6	86303411	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	13624679	86303411	84811656	47	147174											
MED23	9439	broad.mit.edu	37	chr6	131948549	131948549	+	Frame_Shift_Del	DEL	C	C	-													cgctcacctgagaaagaccaCcccaaaactgtctgaaggcc							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr6:131948548_131948548AC>A	uc003qcs.1	-	2	321	c.147_147GT>T	c.(145-147)ggtfs	p.G49fs	ENPP3_uc010kfn.1_5'Flank|ENPP3_uc003qcu.4_5'Flank|MED23_uc003qcq.3_Frame_Shift_Del_p.G49fs|MED23_uc003qct.1_Frame_Shift_Del_p.G49fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	49					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)		GAGAAAGACCACCCCAAAACT	0.318													-	131948549	C	-	131948549	7	5	287	1	0	1	0	1	0	0	0	0	9441	507	18	0	4097	0	MED23	6	131948549	Frame_Shift_Del	DEL	C	TCGA-IN-8462-01A-11D-2340-08	45645138	131948549	39166518	48	147175											
EPDR1	54749	broad.mit.edu	37	chr7	37989889	37989889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacagtgtgatattgtctaCgcggttttttgacatccagc	9	9	1	2	rs147990215	byFrequency	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr7:37989889C>T	uc003tfp.2	+	3	945	c.926C>T	c.(925-927)ACG>ATG	p.T309M	EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Missense_Mutation_p.T128M	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	189					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						ATATTGTCTACGCGGTTTTTT	0.463													T	37989889	C	T	37989889	3	4	287	1	0	0	0	0	1	0	0	0	5163	536	19	1	936	1	EPDR1	7	37989889	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08		37989889	121148774	49	147176											
TNS3	64759	broad.mit.edu	37	chr7	47343060	47343060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaagcaggacagcactgggGagtccttcctggtaccggag	16	10	0	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr7:47343060G>T	uc003tnv.2	-	22	3312	c.2945C>A	c.(2944-2946)TCC>TAC	p.S982Y	TNS3_uc003tnw.2_Missense_Mutation_p.S982Y	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	982						focal adhesion	protein binding			ovary(4)	4						CAGCACTGGGGAGTCCTTCCT	0.672													T	47343060	G	T	47343060	3	4	287	1	0	0	0	0	1	0	0	0	16341	1174	41	5	1432	5	TNS3	7	47343060	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	9353171	47343060	111795603	50	147177											
FZD1	8321	broad.mit.edu	37	chr7	90895695	90895695	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctcttcgtgtacctgttTatcggcacgtcctttctgct	7	15	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr7:90895695T>C	uc003ula.2	+	1	1913	c.1500T>C	c.(1498-1500)TTT>TTC	p.F500F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	500	Helical; Name=5; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGTACCTGTTTATCGGCACGT	0.602													C	90895695	T	C	90895695	2	2	287	1	0	0	0	0	0	0	0	1	6128	1751	61	3		3	FZD1	7	90895695	Silent	SNP	T	TCGA-IN-8462-01A-11D-2340-08	43552635	90895695	68242968	51	147178											
WDR91	29062	broad.mit.edu	37	chr7	134889047	134889047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggactctttcttggcCgagctctgaggttgaggagg	15	9	3	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr7:134889047C>T	uc003vsp.2	-	6	926	c.864G>A	c.(862-864)TCG>TCA	p.S288S	WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	288										breast(2)|ovary(1)|skin(1)	4						CTTTCTTGGCCGAGCTCTGAG	0.592													T	134889047	C	T	134889047	2	4	287	1	0	0	0	0	0	0	0	1	17335	639	23	1		1	WDR91	7	134889047	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	43993352	134889047	24249616	52	147179											
TMEM213	155006	broad.mit.edu	37	chr7	138487766	138487766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcctgctctgtgtggaCaaactgatgaagctgactcc	9	12	2	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr7:138487766C>A	uc010lna.2	+	3	387	c.276C>A	c.(274-276)GAC>GAA	p.D92E	TMEM213_uc010lnb.2_Missense_Mutation_p.D91E	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	transmembrane protein 213	92	Cytoplasmic (Potential).					integral to membrane					0						TCTGTGTGGACAAACTGATGA	0.587													A	138487766	C	A	138487766	3	1	287	1	0	0	0	0	1	0	0	0	16133	477	17	5	286	5	TMEM213	7	138487766	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	3598719	138487766	20650897	53	147180											
SLC4A2	6522	broad.mit.edu	37	chr7	150772385	150772385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctgcagaagggctccGgcttccacctggacctgctg	13	14	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr7:150772385G>A	uc003wit.3	+	20	3347	c.3091G>A	c.(3091-3093)GGC>AGC	p.G1031S	SLC4A2_uc011kve.1_Missense_Mutation_p.G1022S|SLC4A2_uc003wiu.3_Missense_Mutation_p.G1017S|SLC4A2_uc003wiv.3_Missense_Mutation_p.G225S|uc011kvf.1_Silent_p.A167A	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	1031	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGGGCTCCGGCTTCCACCT	0.642													A	150772385	G	A	150772385	3	1	287	1	0	0	0	0	1	0	0	0	14654	1116	39	1	3165	1	SLC4A2	7	150772385	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	12284619	150772385	8366278	54	147181											
DDHD2	23259	broad.mit.edu	37	chr8	38095671	38095671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacacccacggagcaggGtcgaccaagaactgtgaaga	11	11	1	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr8:38095671G>A	uc003xlb.2	+	5	943	c.566G>A	c.(565-567)GGT>GAT	p.G189D	DDHD2_uc003xla.2_Missense_Mutation_p.G189D|DDHD2_uc003xlc.2_Missense_Mutation_p.G189D|DDHD2_uc011lbl.1_Intron	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	189					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACGGAGCAGGGTCGACCAAGA	0.403													A	38095671	G	A	38095671	3	1	287	1	0	0	0	0	1	0	0	0	4327	1261	44	4	580	4	DDHD2	8	38095671	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08		38095671	108268351	55	147182											
RBM12B	389677	broad.mit.edu	37	chr8	94746335	94746335	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcgcctgaaatgctcTgggggtggccgcctgaagtg	19	10	1	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr8:94746335T>C	uc003yfz.2	-	3	2497	c.2304A>G	c.(2302-2304)CCA>CCG	p.P768P		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	768							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGAAATGCTCTGGGGGTGGCC	0.677													C	94746335	T	C	94746335	2	2	287	1	0	0	0	0	0	0	0	1	13114	1567	55	3		3	RBM12B	8	94746335	Silent	SNP	T	TCGA-IN-8462-01A-11D-2340-08	56650664	94746335	51617687	56	147183			1	66		2	2	15	T		6.105114e-05
RBM12B	389677	broad.mit.edu	37	chr8	94746349	94746349	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctctgggggtggccgccTgaagtgctctgggggtggcc	19	10	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr8:94746349T>G	uc003yfz.2	-	3	2483	c.2290A>C	c.(2290-2292)AGG>CGG	p.R764R		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	764							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGTGGCCGCCTGAAGTGCTCT	0.677													G	94746349	T	G	94746349	2	3	287	1	0	0	0	0	0	0	0	1	13114	1579	55	5		5	RBM12B	8	94746349	Silent	SNP	T	TCGA-IN-8462-01A-11D-2340-08	14	94746349	51617673	57	147184			1	66		2	2	15	T		6.105114e-05
TSPYL5	85453	broad.mit.edu	37	chr8	98289373	98289373	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctccaagtgctgcagtcGcaactgcccaaacttcctgg	10	15	0	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr8:98289373G>A	uc003yhy.2	-	1	804	c.700C>T	c.(700-702)CGA>TGA	p.R234*		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	234					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			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					TGCTGCAGTCGCAACTGCCCA	0.567													A	98289373	G	A	98289373	4	1	287	1	0	0	0	0	0	1	0	0	16659	1095	38	1	557	1	TSPYL5	8	98289373	Nonsense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	3543024	98289373	48074649	58	147185											
CSMD3	114788	broad.mit.edu	37	chr8	113332148	113332148	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctatttcaaattcatcatCttccgtcaaaatttcagcat	2	11	6	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr8:113332148C>T	uc003ynu.2	-	46	7387	c.7228G>A	c.(7228-7230)GAT>AAT	p.D2410N	CSMD3_uc003yns.2_Missense_Mutation_p.D1612N|CSMD3_uc003ynt.2_Missense_Mutation_p.D2370N|CSMD3_uc011lhx.1_Missense_Mutation_p.D2306N|CSMD3_uc003ynw.1_Missense_Mutation_p.D121N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2410	Extracellular (Potential).|Sushi 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AATTCATCATCTTCCGTCAAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113332148	C	T	113332148	3	4	287	1	0	0	0	0	1	0	0	0	3946	913	32	4	3999	4	CSMD3	8	113332148	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	15042775	113332148	33031874	59	147186											
CYLC2	1539	broad.mit.edu	37	chr9	105767544	105767544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatctgaaggtgaaaaaGgaggtacagagaaagatagc	13	4	1	5			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr9:105767544G>A	uc004bbs.2	+	5	701	c.631G>A	c.(631-633)GGA>AGA	p.G211R		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	211	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				AGGTGAAAAAGGAGGTACAGA	0.279													A	105767544	G	A	105767544	3	1	287	1	0	0	0	0	1	0	0	0	4142	1001	35	4	649	4	CYLC2	9	105767544	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08		105767544	35445887	60	147187											
SVEP1	79987	broad.mit.edu	37	chr9	113173397	113173397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagataccgggtggcaCgtcggtataggactactcca	11	12	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr9:113173397C>T	uc010mtz.2	-	37	6931	c.6594G>A	c.(6592-6594)ACG>ACA	p.T2198T	SVEP1_uc010mty.2_Silent_p.T124T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2198	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CCGGGTGGCACGTCGGTATAG	0.522													T	113173397	C	T	113173397	2	4	287	1	0	0	0	0	0	0	0	1	15417	523	19	1		1	SVEP1	9	113173397	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	7405853	113173397	28040034	61	147188											
CERCAM	51148	broad.mit.edu	37	chr9	131186739	131186739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccaagaaccgccagcgCcggggctgcttccgtgtccc	11	19	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr9:131186739C>T	uc004buz.3	+	5	1010	c.612C>T	c.(610-612)CGC>CGT	p.R204R	CERCAM_uc004buy.1_Silent_p.R126R|CERCAM_uc010mxz.2_Silent_p.R126R|CERCAM_uc010mya.1_Silent_p.R45R	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	204					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						ACCGCCAGCGCCGGGGCTGCT	0.647													T	131186739	C	T	131186739	2	4	287	1	0	0	0	0	0	0	0	1	3266	726	26	2		2	CERCAM	9	131186739	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	18013342	131186739	10026692	62	147189											
COL5A1	1289	broad.mit.edu	37	chr9	137708924	137708924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcggggcctccaggaaaaaGggtaaataatcctgcaggca	12	9	0	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr9:137708924G>T	uc004cfe.2	+	53	4557	c.4175G>T	c.(4174-4176)AGG>ATG	p.R1392M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1392	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		CCAGGAAAAAGGGTAAATAAT	0.572													T	137708924	G	T	137708924	3	4	287	1	0	0	0	0	1	0	0	0	3696	1014	35	5	4385	5	COL5A1	9	137708924	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	6522185	137708924	3504507	63	147190											
DOCK1	1793	broad.mit.edu	37	chr10	129179558	129179558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtatttgtacaagctcTgtgacctgcacaaggagtgt	11	8	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr10:129179558T>C	uc001ljt.2	+	37	3734	c.3670T>C	c.(3670-3672)TGT>CGT	p.C1224R	DOCK1_uc010qun.1_Missense_Mutation_p.C1245R|DOCK1_uc009yaq.2_Missense_Mutation_p.C219R	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1224	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			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		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)		GTACAAGCTCTGTGACCTGCA	0.388													C	129179558	T	C	129179558	3	2	287	1	0	0	0	0	1	0	0	0	4684	1580	55	3	3816	3	DOCK1	10	129179558	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08		129179558	6355189	64	147191											
MUC5B	727897	broad.mit.edu	37	chr11	1263339	1263339	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccaaagagccgctgaccacGagcctggcgccaacactcac	9	17	1	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:1263339G>C	uc009ycr.1	+	47	7434	c.7308G>C	c.(7306-7308)ACG>ACC	p.T2436T	MUC5B_uc001ltb.2_Silent_p.T1746T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1743	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		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)		CGCTGACCACGAGCCTGGCGC	0.642													C	1263339	G	C	1263339	2	2	287	1	0	0	0	0	0	0	0	1	9979	1045	37	5		5	MUC5B	11	1263339	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08		1263339	133743177	65	147192											
APBB1	322	broad.mit.edu	37	chr11	6432394	6432394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggcattggcagggcctgGctcaggcccaccaccctccc	11	18	1	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:6432394G>T	uc001mdb.1	-	2	284	c.184C>A	c.(184-186)CCA>ACA	p.P62T	APBB1_uc001mdc.1_Missense_Mutation_p.P62T|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	62					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(2)	2		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)		GCAGGGCCTGGCTCAGGCCCA	0.662													T	6432394	G	T	6432394	3	4	287	1	0	0	0	0	1	0	0	0	759	1203	42	5	2000	5	APBB1	11	6432394	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	5169055	6432394	128574122	66	147193											
PTPRJ	5795	broad.mit.edu	37	chr11	48149352	48149352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctattcaggtttttgacGtcaccgctgtgaacatcagt	9	9	3	2	rs2229703	byFrequency	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:48149352G>A	uc001ngp.3	+	7	1469	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I	PTPRJ_uc001ngo.3_Missense_Mutation_p.V372I	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	372	Extracellular (Potential).|Fibronectin type-III 4.				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	p.V372L(1)		breast(3)|kidney(3)|ovary(1)|skin(1)	8						GGTTTTTGACGTCACCGCTGT	0.498													A	48149352	G	A	48149352	3	1	287	1	0	0	0	0	1	0	0	0	12804	1145	40	1	1140	1	PTPRJ	11	48149352	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	41716958	48149352	86857164	67	147194											
OR9G4	283189	broad.mit.edu	37	chr11	56510343	56510343	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgttgctttcctgaaGgcctctttgatatctttgtt	9	8	3	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:56510343G>T	uc010rjo.1	-	1	945	c.945C>A	c.(943-945)GCC>GCA	p.A315A		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	315	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CTTTCCTGAAGGCCTCTTTGA	0.408													T	56510343	G	T	56510343	2	4	287	1	0	0	0	0	0	0	0	1	11251	987	35	5		5	OR9G4	11	56510343	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	8360991	56510343	78496173	68	147195											
BAD	572	broad.mit.edu	37	chr11	64037700	64037700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgggagggggcggagCttcccctgcccaagttccga	15	13	1	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:64037700C>T	uc001nzd.2	-	4	570	c.488G>A	c.(487-489)AGC>AAC	p.S163N	BAD_uc001nzc.2_Missense_Mutation_p.S163N|GPR137_uc009ypj.1_5'UTR	NM_032989	NP_116784	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	163					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)	1						GGGGGCGGAGCTTCCCCTGCC	0.637													T	64037700	C	T	64037700	3	4	287	1	0	0	0	0	1	0	0	0	1285	797	28	2	22	2	BAD	11	64037700	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	7527357	64037700	70968816	69	147196											
SLC22A12	116085	broad.mit.edu	37	chr11	64360337	64360337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgggagctgctgcgtgCggccctgcctcagacaggtg	17	12	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:64360337C>T	uc001oam.1	+	2	1236	c.489C>T	c.(487-489)TGC>TGT	p.C163C	SLC22A12_uc009ypr.1_Silent_p.C163C|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.C163C|SLC22A12_uc001oan.1_Silent_p.C163C|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	163	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CTGCTGCGTGCGGCCCTGCCT	0.627													T	64360337	C	T	64360337	2	4	287	1	0	0	0	0	0	0	0	1	14443	776	27	1		1	SLC22A12	11	64360337	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	322637	64360337	70646179	70	147197											
CADM1	23705	broad.mit.edu	37	chr11	115099839	115099839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagggtactcacactgtaCttctagataccgctgggtct	9	12	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:115099839C>A	uc001ppi.3	-	5	844	c.715G>T	c.(715-717)GTA>TTA	p.V239L	CADM1_uc001ppf.3_Missense_Mutation_p.V239L|CADM1_uc001ppk.3_Missense_Mutation_p.V239L|CADM1_uc001ppj.3_Missense_Mutation_p.V239L|CADM1_uc001ppl.2_Missense_Mutation_p.V239L	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	239	Extracellular (Potential).				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			ovary(2)	2	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)		TCACACTGTACTTCTAGATAC	0.483													A	115099839	C	A	115099839	3	1	287	1	0	0	0	0	1	0	0	0	2566	565	20	5	637	5	CADM1	11	115099839	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	50739502	115099839	19906677	71	147198											
APOA5	116519	broad.mit.edu	37	chr11	116661339	116661339	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcctgcacgtggcgcccGatgccgctcaccaggctctc	11	18	2	0	rs140482460		TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:116661339G>A	uc001ppr.2	-	3	614	c.606C>T	c.(604-606)ATC>ATT	p.I202I	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.I202I|APOA5_uc009yzf.2_Silent_p.I202I|APOA5_uc009yzg.2_Silent_p.I228I	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	202					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CGTGGCGCCCGATGCCGCTCA	0.697													A	116661339	G	A	116661339	2	1	287	1	0	0	0	0	0	0	0	1	784	1048	37	1		1	APOA5	11	116661339	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	1561500	116661339	18345177	72	147199											
GRIK4	2900	broad.mit.edu	37	chr11	120531035	120531035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattcatagaagatgccccGcgtctcggcgcctttggtgc	13	12	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:120531035G>A	uc001pxn.2	+	3	295	c.8G>A	c.(7-9)CGC>CAC	p.R3H	GRIK4_uc009zav.1_Missense_Mutation_p.R3H|GRIK4_uc009zaw.1_Missense_Mutation_p.R3H|GRIK4_uc009zax.1_Missense_Mutation_p.R3H	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	3					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	AAGATGCCCCGCGTCTCGGCG	0.637											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	120531035	G	A	120531035	3	1	287	1	0	0	0	0	1	0	0	0	6776	1087	38	1	10	1	GRIK4	11	120531035	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	3869696	120531035	14475481	73	147200											
GRIK4	2900	broad.mit.edu	37	chr11	120732714	120732714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggatgatcgtgtcaAcatcctgggattttccattt	9	9	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:120732714A>T	uc001pxn.2	+	9	1078	c.791A>T	c.(790-792)AAC>ATC	p.N264I	GRIK4_uc009zav.1_Missense_Mutation_p.N264I|GRIK4_uc009zaw.1_Missense_Mutation_p.N264I|GRIK4_uc009zax.1_Missense_Mutation_p.N264I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	264	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		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)	GATCGTGTCAACATCCTGGGA	0.488													T	120732714	A	T	120732714	3	4	287	1	0	0	0	0	1	0	0	0	6776	43	2	5	817	5	GRIK4	11	120732714	Missense_Mutation	SNP	A	TCGA-IN-8462-01A-11D-2340-08	201679	120732714	14273802	74	147201											
ADAMTS8	11095	broad.mit.edu	37	chr11	130297579	130297579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcccccaggggcggtggCggctcgctagcgccttctgc	17	15	1	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr11:130297579C>T	uc001qgg.3	-	1	961	c.603G>A	c.(601-603)CCG>CCA	p.P201P		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	201	Poly-Pro.				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)	1	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)		GGGGCGGTGGCGGCTCGCTAG	0.657													T	130297579	C	T	130297579	2	4	287	1	0	0	0	0	0	0	0	1	272	755	27	1		1	ADAMTS8	11	130297579	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	9564865	130297579	4708937	75	147202											
PIK3C2G	5288	broad.mit.edu	37	chr12	18491390	18491391	+	Frame_Shift_Ins	INS	-	-	A													taatattattgaagaagttaINSaaaaaatatgcagtgttcta							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:18491389_18491390T>TA	uc001rdt.3	+	8	1418_1419	c.1302_1303T>TA	c.(1300-1305)gttaaafs	p.V434fs	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Frame_Shift_Ins_p.V434fs|PIK3C2G_uc010sic.2_Frame_Shift_Ins_p.V212fs	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	434					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)				TTGAAGAAGTTAAAAAAATATG	0.312													A	18491391	-	A	18491390	7	5	287	1	0	1	1	0	0	0	0	0	11911	363	13	0	1333	0	PIK3C2G	12	18491390	Frame_Shift_Ins	INS	-	TCGA-IN-8462-01A-11D-2340-08		18491390	115360505	76	147203											
ABCC9	10060	broad.mit.edu	37	chr12	22059168	22059169	+	Frame_Shift_Ins	INS	-	-	T													caggcatacaattttagaagINStttgatgcctttcaatattt							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:22059168_22059169insT	uc001rfi.1	-	10	1529_1530	c.1509_1510insA	c.(1507-1512)AAACTTfs	p.K503fs	ABCC9_uc001rfh.2_Frame_Shift_Ins_p.K503fs|ABCC9_uc001rfj.1_Frame_Shift_Ins_p.K503fs	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	503_504	Cytoplasmic (Potential).|ABC transmembrane type-1 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			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATTTTAGAAGTTTGATGCCTT	0.337													T	22059169	-	T	22059168	7	5	287	1	0	1	1	0	0	0	0	0	59	1029	36	0	3397	0	ABCC9	12	22059168	Frame_Shift_Ins	INS	-	TCGA-IN-8462-01A-11D-2340-08	3567778	22059168	111792727	77	147204	784	2									
ABCC9	10060	broad.mit.edu	37	chr12	22059169	22059170	+	Frame_Shift_Ins	INS	-	-	T													aggcatacaattttagaagtINSttgatgcctttcaatatttc							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:22059168_22059169G>GT	uc001rfh.3	-	9	1529_1530	c.1509_1510C>AC	c.(1507-1512)aaacttfs	p.K503fs	ABCC9_uc001rfi.1_Frame_Shift_Ins_p.K503fs	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	503	ABC transmembrane type-1 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)	AATTTTAGAAGTTTGATGCCTT	0.337													T	22059170	-	T	22059169	7	5	287	1	0	1	1	0	0	0	0	0	59	1722	60	0	3398	0	ABCC9	12	22059169	Frame_Shift_Ins	INS	-	TCGA-IN-8462-01A-11D-2340-08	1	22059169	111792726	78	147205	784	2									
PDZRN4	29951	broad.mit.edu	37	chr12	41900470	41900470	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaagcttcgtccaccTacccctccagtgccagacat	7	18	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:41900470T>A	uc010skn.1	+	4	527	c.459T>A	c.(457-459)CCT>CCA	p.P153P	PDZRN4_uc001rmq.3_Silent_p.P94P|PDZRN4_uc009zjz.2_Silent_p.P92P|PDZRN4_uc001rmr.2_5'Flank	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	352							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCGTCCACCTACCCCTCCAG	0.493													A	41900470	T	A	41900470	2	1	287	1	0	0	0	0	0	0	0	1	11710	1509	53	5		5	PDZRN4	12	41900470	Silent	SNP	T	TCGA-IN-8462-01A-11D-2340-08	19841301	41900470	91951425	79	147206											
MAP3K12	7786	broad.mit.edu	37	chr12	53879109	53879109	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctagttctcaccagatgtcGaccttctcagacacaggttc	7	14	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:53879109G>T	uc001sdm.1	-	6	971	c.873C>A	c.(871-873)GTC>GTA	p.V291V	MAP3K12_uc001sdn.1_Silent_p.V324V	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	291	Protein kinase.				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			lung(2)|ovary(1)|breast(1)|skin(1)	5						ACCAGATGTCGACCTTCTCAG	0.557													T	53879109	G	T	53879109	2	4	287	1	0	0	0	0	0	0	0	1	9246	1045	37	5		5	MAP3K12	12	53879109	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	11978639	53879109	79972786	80	147207											
MARS	4141	broad.mit.edu	37	chr12	57898029	57898029	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctcagtgtaaagtctgcCgatcatgccctgtggtgcag	12	11	3	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:57898029C>T	uc001sog.2	+	11	1338	c.1315C>T	c.(1315-1317)CGA>TGA	p.R439*	MARS_uc001sof.1_RNA|MARS_uc010srp.1_Nonsense_Mutation_p.R312*|MARS_uc010srq.1_Nonsense_Mutation_p.R205*	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	439					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TAAAGTCTGCCGATCATGCCC	0.557													T	57898029	C	T	57898029	4	4	287	1	0	0	0	0	0	1	0	0	9316	644	23	1	1357	1	MARS	12	57898029	Nonsense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	4018920	57898029	75953866	81	147208											
OS9	10956	broad.mit.edu	37	chr12	58109707	58109707	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccatcctctgtcacccTtccctacagcctgaggagta	8	16	2	1	rs73125477	byFrequency	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:58109707T>G	uc001spj.2	+	6	803	c.744T>G	c.(742-744)CCT>CCG	p.P248P	OS9_uc010srx.1_Intron|OS9_uc001spk.2_Silent_p.P248P|OS9_uc001spl.2_Silent_p.P248P|OS9_uc001spm.2_Silent_p.P248P|OS9_uc001spn.2_Silent_p.P248P|OS9_uc010sry.1_Silent_p.P215P|OS9_uc010srz.1_Silent_p.P189P	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	248					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTGTCACCCTTCCCTACAGC	0.627													G	58109707	T	G	58109707	2	3	287	1	0	0	0	0	0	0	0	1	11272	1596	56	5		5	OS9	12	58109707	Silent	SNP	T	TCGA-IN-8462-01A-11D-2340-08	211678	58109707	75742188	82	147209											
C12orf66	144577	broad.mit.edu	37	chr12	64587770	64587770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaaagtgaggttccgggCgggttaggaagtaggtactc	17	5	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:64587770C>T	uc001srw.3	-	3	1249	c.1190G>A	c.(1189-1191)CGC>CAC	p.R397H	C12orf66_uc009zql.2_Missense_Mutation_p.R344H	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	397										ovary(1)	1						AGGTTCCGGGCGGGTTAGGAA	0.448													T	64587770	C	T	64587770	3	4	287	1	0	0	0	0	1	0	0	0	1709	768	27	1	151	1	C12orf66	12	64587770	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	6478063	64587770	69264125	83	147210											
MGAT4C	25834	broad.mit.edu	37	chr12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccttcagcttattctccGtccctttgtatgatgaataa	5	11	2	2	rs145801611	byFrequency	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:86373542G>A	uc001tai.3	-	8	2212	c.962C>T	c.(961-963)ACG>ATG	p.T321M	MGAT4C_uc001tal.3_Missense_Mutation_p.T321M|MGAT4C_uc001taj.3_Missense_Mutation_p.T321M|MGAT4C_uc001tak.3_Missense_Mutation_p.T321M|MGAT4C_uc010sum.1_Missense_Mutation_p.T345M|MGAT4C_uc001tah.3_Missense_Mutation_p.T321M	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	321	Lumenal (Potential).				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			ovary(3)	3						CTTATTCTCCGTCCCTTTGTA	0.403													A	86373542	G	A	86373542	3	1	287	1	0	0	0	0	1	0	0	0	9547	1145	40	1	478	1	MGAT4C	12	86373542	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	21785772	86373542	47478353	84	147211											
WSCD2	9671	broad.mit.edu	37	chr12	108641943	108641943	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcagggaggaccggctGctctgtgtggagagccagaa	17	9	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr12:108641943G>T	uc001tms.2	+	9	2265	c.1521G>T	c.(1519-1521)CTG>CTT	p.L507L	WSCD2_uc001tmt.2_Silent_p.L507L|WSCD2_uc001tmu.2_Silent_p.L275L	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	507						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AGGACCGGCTGCTCTGTGTGG	0.602													T	108641943	G	T	108641943	2	4	287	1	0	0	0	0	0	0	0	1	17404	1306	46	5		5	WSCD2	12	108641943	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	22268401	108641943	25209952	85	147212											
RAP2A	5911	broad.mit.edu	37	chr13	98116563	98116563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgctgaagagtggggctGcccctttatggaaacttccg	12	11	0	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr13:98116563G>T	uc001vnd.2	+	2	669	c.419G>T	c.(418-420)TGC>TTC	p.C140F		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	140					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GAGTGGGGCTGCCCCTTTATG	0.488													T	98116563	G	T	98116563	3	4	287	1	0	0	0	0	1	0	0	0	13040	1319	46	5	425	5	RAP2A	13	98116563	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08		98116563	17053315	86	147213											
MYO16	23026	broad.mit.edu	37	chr13	109792648	109792648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgcacagcgacgactacaGcaccatgaagaagattcctc	8	14	0	3	rs145367903		TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr13:109792648G>T	uc001vqt.1	+	32	4148	c.4022G>T	c.(4021-4023)AGC>ATC	p.S1341I	MYO16_uc010agk.1_Missense_Mutation_p.S1363I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1341					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			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	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)			GACGACTACAGCACCATGAAG	0.602													T	109792648	G	T	109792648	3	4	287	1	0	0	0	0	1	0	0	0	10064	971	34	5	4144	5	MYO16	13	109792648	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	11676085	109792648	5377230	87	147214											
PRKD1	5587	broad.mit.edu	37	chr14	30102110	30102110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtcattctgaaagaGggtaatacatttgctatcca	8	8	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr14:30102110G>A	uc001wqh.2	-	9	1538	c.1357C>T	c.(1357-1359)CTC>TTC	p.L453F		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	453	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTCTGAAAGAGGGTAATACAT	0.368													A	30102110	G	A	30102110	3	1	287	1	0	0	0	0	1	0	0	0	12518	1000	35	4	1421	4	PRKD1	14	30102110	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08		30102110	77247430	88	147215											
BAZ1A	11177	broad.mit.edu	37	chr14	35224069	35224069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacttattcactttttcacGaattatatttaaggcaatgg	5	7	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr14:35224069G>A	uc001wsk.2	-	26	5006	c.4438C>T	c.(4438-4440)CGT>TGT	p.R1480C	BAZ1A_uc001wsl.2_Missense_Mutation_p.R1448C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1480	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	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)		ACTTTTTCACGAATTATATTT	0.284													A	35224069	G	A	35224069	3	1	287	1	0	0	0	0	1	0	0	0	1329	1058	37	1	240	1	BAZ1A	14	35224069	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	5121959	35224069	72125471	89	147216											
LRFN5	145581	broad.mit.edu	37	chr14	42356169	42356169	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcaacagattgactaaaaTtacaaatgatatgttcagtg	7	5	1	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr14:42356169T>G	uc001wvm.2	+	3	1539	c.341T>G	c.(340-342)ATT>AGT	p.I114S	LRFN5_uc010ana.2_Missense_Mutation_p.I114S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	114	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGACTAAAATTACAAATGAT	0.353										HNSCC(30;0.082)			G	42356169	T	G	42356169	3	3	287	1	0	0	0	0	1	0	0	0	8941	1493	52	5	343	5	LRFN5	14	42356169	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	7132100	42356169	64993371	90	147217											
GNPNAT1	64841	broad.mit.edu	37	chr14	53251263	53251263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaaaaccaagccttctcCaggatgtgttggggaaatgg	11	10	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr14:53251263C>T	uc001xab.2	-	2	361	c.106G>A	c.(106-108)GGA>AGA	p.G36R		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	36					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity				0	Breast(41;0.176)					AAGCCTTCTCCAGGATGTGTT	0.408													T	53251263	C	T	53251263	3	4	287	1	0	0	0	0	1	0	0	0	6544	603	21	4	468	4	GNPNAT1	14	53251263	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	10895094	53251263	54098277	91	147218											
TMEM90A	646658	broad.mit.edu	37	chr14	74876050	74876050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttcctcctggtcaTcctcctggtcccgcagctcc	6	21	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr14:74876050T>C	uc001xpx.2	-	2	646	c.398A>G	c.(397-399)GAT>GGT	p.D133G		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	133					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		CTCCTGGTCATCCTCCTGGTC	0.418													C	74876050	T	C	74876050	3	2	287	1	0	0	0	0	1	0	0	0	16215	1435	50	3	330	3	TMEM90A	14	74876050	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	21624787	74876050	32473490	92	147219											
ZDHHC22	283576	broad.mit.edu	37	chr14	77600151	77600151	+	Frame_Shift_Del	DEL	C	C	-													gggccgggccctcactgccaCccccttccgcacctggtggc							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr14:77600151delC	uc010asp.2	-	3	870	c.667delG	c.(667-669)GTGfs	p.V223fs		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	zinc finger, DHHC domain containing 22	223						integral to membrane	acyltransferase activity|zinc ion binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CTCACTGCCACCCCCTTCCGC	0.652													-	77600151	C	-	77600151	7	5	287	1	0	1	0	1	0	0	0	0	17610	507	18	0	128	0	ZDHHC22	14	77600151	Frame_Shift_Del	DEL	C	TCGA-IN-8462-01A-11D-2340-08	2724101	77600151	29749389	93	147220											
KCNK13	56659	broad.mit.edu	37	chr14	90651110	90651110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatctccatagagacagaCggggtggcagagagtgacac	13	9	1	4	rs139112374		TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr14:90651110C>T	uc001xye.1	+	2	1432	c.990C>T	c.(988-990)GAC>GAT	p.D330D		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	330	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				TAGAGACAGACGGGGTGGCAG	0.622													T	90651110	C	T	90651110	2	4	287	1	0	0	0	0	0	0	0	1	8061	535	19	1		1	KCNK13	14	90651110	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	13050959	90651110	16698430	94	147221											
SLTM	79811	broad.mit.edu	37	chr15	59186099	59186099	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcattcttctcatctttAccttctattttcttagtatc	1	10	6	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr15:59186099A>G	uc002afp.2	-	12	1657	c.1569T>C	c.(1567-1569)GGT>GGC	p.G523G	SLTM_uc002afn.2_Splice_Site_p.G92_splice|SLTM_uc002afo.2_Silent_p.G505G|SLTM_uc002afq.2_Silent_p.G92G|SLTM_uc010bgd.2_Silent_p.G92G	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	523					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TCTCATCTTTACCTTCTATTT	0.348													G	59186099	A	G	59186099	2	3	287	1	0	0	0	0	0	0	0	1	14754	378	14	3		3	SLTM	15	59186099	Silent	SNP	A	TCGA-IN-8462-01A-11D-2340-08		59186099	43345293	95	147222											
DENND4A	10260	broad.mit.edu	37	chr15	65988761	65988761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgtaccagtgaggcgaaCgatactggaagaattttgat	11	6	0	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr15:65988761C>T	uc002aph.2	-	21	3271	c.2893G>A	c.(2893-2895)GTT>ATT	p.V965I	DENND4A_uc002api.2_Missense_Mutation_p.V1008I|DENND4A_uc002apj.3_Missense_Mutation_p.V965I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	965					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GTGAGGCGAACGATACTGGAA	0.383													T	65988761	C	T	65988761	3	4	287	1	0	0	0	0	1	0	0	0	4433	536	19	1	2746	1	DENND4A	15	65988761	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	6802662	65988761	36542631	96	147223											
CORO2B	10391	broad.mit.edu	37	chr15	69004026	69004026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgtgtgattgagccccGctctggccgtgttctgcagg	15	12	2	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr15:69004026G>A	uc002arj.3	+	5	658	c.629G>A	c.(628-630)CGC>CAC	p.R210H	CORO2B_uc010bic.2_Missense_Mutation_p.R205H|CORO2B_uc002ark.2_5'Flank	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	210	WD 3.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						ATTGAGCCCCGCTCTGGCCGT	0.557													A	69004026	G	A	69004026	3	1	287	1	0	0	0	0	1	0	0	0	3757	1087	38	1	647	1	CORO2B	15	69004026	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	3015265	69004026	33527366	97	147224											
C15orf42	90381	broad.mit.edu	37	chr15	90164697	90164697	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggggcaatgtctgagatGatcagcccctcagaaaaggg	13	8	3	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr15:90164697G>T	uc002boe.2	+	19	3228	c.3228G>T	c.(3226-3228)ATG>ATT	p.M1076I	C15orf42_uc010upv.1_5'Flank	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1076					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTCTGAGATGATCAGCCCCT	0.423													T	90164697	G	T	90164697	3	4	287	1	0	0	0	0	1	0	0	0	1796	1290	45	5	3302	5	C15orf42	15	90164697	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	21160671	90164697	12366695	98	147225											
PKD1	5310	broad.mit.edu	37	chr16	2143019	2143019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctttgcagacggtaggCgtgcccatggcatgaggcat	16	10	0	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:2143019C>A	uc002cos.1	-	38	11301	c.11092G>T	c.(11092-11094)GCC>TCC	p.A3698S	PKD1_uc002cot.1_Missense_Mutation_p.A3697S|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3698	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGACGGTAGGCGTGCCCATGG	0.642													A	2143019	C	A	2143019	3	1	287	1	0	0	0	0	1	0	0	0	11963	768	27	5	1855	5	PKD1	16	2143019	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08		2143019	88211734	99	147226											
TRAP1	10131	broad.mit.edu	37	chr16	3724366	3724366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacgtagaagatgctgcGgatgttgagcggtgcgtccg	18	8	0	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:3724366G>A	uc002cvt.3	-	9	1107	c.1018C>T	c.(1018-1020)CGC>TGC	p.R340C	TRAP1_uc002cvs.2_Missense_Mutation_p.R131C|TRAP1_uc010uxf.1_Missense_Mutation_p.R287C	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	340					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				AAGATGCTGCGGATGTTGAGC	0.607													A	3724366	G	A	3724366	3	1	287	1	0	0	0	0	1	0	0	0	16452	1116	39	1	1136	1	TRAP1	16	3724366	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	1581347	3724366	86630387	100	147227											
SEC14L5	9717	broad.mit.edu	37	chr16	5064914	5064914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctcccagctcagcgcCgccacctcgtcctcctcctc	7	22	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:5064914C>T	uc002cye.2	+	16	2214	c.2034C>T	c.(2032-2034)GCC>GCT	p.A678A		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	678	Ser-rich.					integral to membrane|intracellular	transporter activity				0						AGCTCAGCGCCGCCACCTCGT	0.662													T	5064914	C	T	5064914	2	4	287	1	0	0	0	0	0	0	0	1	13985	639	23	1		1	SEC14L5	16	5064914	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	1340548	5064914	85289839	101	147228											
GP2	2813	broad.mit.edu	37	chr16	20335179	20335179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagggagtgccttccaacCggtacacatggtacccgcct	10	15	0	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:20335179C>A	uc002dgv.2	-	3	577	c.494G>T	c.(493-495)CGG>CTG	p.R165L	GP2_uc002dgw.2_Missense_Mutation_p.R165L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	165						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						GCCTTCCAACCGGTACACATG	0.577													A	20335179	C	A	20335179	3	1	287	1	0	0	0	0	1	0	0	0	6582	652	23	5	1159	5	GP2	16	20335179	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	15270265	20335179	70019574	102	147229											
NKD1	85407	broad.mit.edu	37	chr16	50642255	50642255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgaggaagaggaggaCgactttcggctggaaggtat	16	7	1	1	rs115028583	by1000genomes	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:50642255C>T	uc002egg.1	+	4	467	c.243C>T	c.(241-243)GAC>GAT	p.D81D		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	81					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGAGGAGGACGACTTTCGGC	0.602													T	50642255	C	T	50642255	2	4	287	1	0	0	0	0	0	0	0	1	10441	535	19	1		1	NKD1	16	50642255	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	30307076	50642255	39712498	103	147230											
NDRG4	65009	broad.mit.edu	37	chr16	58538551	58538551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtgctggccaagtttGcagtgagtctccccatgccc	10	14	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:58538551G>T	uc002eno.2	+	5	476	c.370G>T	c.(370-372)GCA>TCA	p.A124S	NDRG4_uc002enk.2_Missense_Mutation_p.A156S|NDRG4_uc002enm.2_Missense_Mutation_p.A176S|NDRG4_uc010vif.1_Missense_Mutation_p.A156S|NDRG4_uc010cdk.2_Missense_Mutation_p.A142S|NDRG4_uc010vig.1_Missense_Mutation_p.A154S|NDRG4_uc010vih.1_Missense_Mutation_p.A69S|NDRG4_uc010vii.1_Missense_Mutation_p.A142S|NDRG4_uc002enp.2_Missense_Mutation_p.A124S|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	124					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						GGCCAAGTTTGCAGTGAGTCT	0.607													T	58538551	G	T	58538551	3	4	287	1	0	0	0	0	1	0	0	0	10254	1319	46	5	552	5	NDRG4	16	58538551	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	7896296	58538551	31816202	104	147231											
MLKL	197259	broad.mit.edu	37	chr16	74716642	74716642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctccctcagggtcccgAgttcacagtactccatgaca	8	15	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:74716642A>C	uc002fdb.2	-	6	1304	c.863T>G	c.(862-864)CTC>CGC	p.L288R	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like isoform 1	288	Protein kinase.						ATP binding|protein binding|protein kinase activity			stomach(2)	2						CAGGGTCCCGAGTTCACAGTA	0.557													C	74716642	A	C	74716642	3	2	287	1	0	0	0	0	1	0	0	0	9619	304	11	5	607	5	MLKL	16	74716642	Missense_Mutation	SNP	A	TCGA-IN-8462-01A-11D-2340-08	16178091	74716642	15638111	105	147232											
C16orf46	123775	broad.mit.edu	37	chr16	81097557	81097557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcatttttctgacagagatCcattactgtgatgcttgctt	7	9	2	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr16:81097557C>A	uc002fgc.3	-	3	263	c.4G>T	c.(4-6)GAT>TAT	p.D2Y	C16orf46_uc010chf.2_Missense_Mutation_p.D2Y|C16orf46_uc010vno.1_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	2											0						TGACAGAGATCCATTACTGTG	0.294													A	81097557	C	A	81097557	3	1	287	1	0	0	0	0	1	0	0	0	1815	855	30	5	1219	5	C16orf46	16	81097557	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	6380915	81097557	9257196	106	147233											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578476	+	Frame_Shift_Ins	INS	-	-	G													gcggacgcgggtgccgggcgINSggggtgtggaatcaacccac					rs137852790		TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr17:7578474_7578475C>CG	uc002gim.2	-	4	649_650	c.455_456G>CG	c.(454-456)ccgfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gih.3_Frame_Shift_Ins_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P20fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P152fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P152fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Ins_p.P59fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P20fs|TP53_uc010vug.2_Frame_Shift_Ins_p.P113fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	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 LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152P(10)|p.P152fs*14(10)|p.P153fs*28(9)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.?(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P152fs*27(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.Q144_G154del11(2)|p.P152_P153insXXX(2)|p.P152A(2)|p.P153fs*16(1)|p.G154fs*16(1)|p.P20R(1)|p.P59R(1)|p.T57fs*16(1)|p.P151del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.G154fs*27(1)|p.Q144fs*16(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)		GGGTGCCGGGCGGGGGTGTGGA	0.614		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)			G	7578476	-	G	7578475	7	5	287	1	0	1	1	0	0	0	0	0	16378	1116	39	0	843	0	TP53	17	7578475	Frame_Shift_Ins	INS	-	TCGA-IN-8462-01A-11D-2340-08		7578475	73616735	107	147234											
KRT36	8689	broad.mit.edu	37	chr17	39645762	39645762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcggctctccagctccgCgttctcccgctccagctgac	10	18	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr17:39645762C>T	uc002hwt.2	-	1	355	c.355G>A	c.(355-357)GCG>ACG	p.A119T		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	119	Rod.|Coil 1A.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TCCAGCTCCGCGTTCTCCCGC	0.572													T	39645762	C	T	39645762	3	4	287	1	0	0	0	0	1	0	0	0	8473	768	27	1	1076	1	KRT36	17	39645762	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	32067287	39645762	41549448	108	147235											
CD300A	11314	broad.mit.edu	37	chr17	72470705	72470705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctgcaagtatcactgcGgccaagacctcaacaatcac	6	15	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr17:72470705G>A	uc002jkv.2	+	3	735	c.414G>A	c.(412-414)GCG>GCA	p.A138A	CD300A_uc002jkw.2_Silent_p.A25A|CD300A_uc010dfr.2_Silent_p.A25A|CD300A_uc010dfs.2_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	leukocyte membrane antigen	138	Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.A138A(1)		ovary(1)|skin(1)	2						GTATCACTGCGGCCAAGACCT	0.547													A	72470705	G	A	72470705	2	1	287	1	0	0	0	0	0	0	0	1	2996	1103	39	1		1	CD300A	17	72470705	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	32824943	72470705	8724505	109	147236											
SEC14L1	6397	broad.mit.edu	37	chr17	75186883	75186883	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtttttaaatttatAggcctatgaaaggaggttcc	9	5	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr17:75186883A>T	uc002jto.2	+	4	331	c.64_splice	c.e4-2	p.A22_splice	SEC14L1_uc010dhc.2_Splice_Site_p.A22_splice|SEC14L1_uc010wth.1_Splice_Site_p.A22_splice|SEC14L1_uc002jtm.2_Splice_Site_p.A22_splice|SEC14L1_uc010wti.1_Splice_Site	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a						transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						TTAAATTTATAGGCCTATGAA	0.483													T	75186883	A	T	75186883	5	4	287	1	0	0	0	0	0	0	1	0	13981	434	15	5	68	5	SEC14L1	17	75186883	Splice_Site	SNP	A	TCGA-IN-8462-01A-11D-2340-08	2716178	75186883	6008327	110	147237											
PIK3C3	5289	broad.mit.edu	37	chr18	39570432	39570432	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttcagagtgaaaaaCgaagttctaatttcatgtac	6	5	3	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr18:39570432C>T	uc002lap.2	+	6	686	c.628C>T	c.(628-630)CGA>TGA	p.R210*	PIK3C3_uc010xcl.1_Nonsense_Mutation_p.R147*	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	210					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			lung(8)|ovary(1)|breast(1)	10						GAGTGAAAAACGAAGTTCTAA	0.284										TSP Lung(28;0.18)			T	39570432	C	T	39570432	4	4	287	1	0	0	0	0	0	1	0	0	11912	528	19	1	650	1	PIK3C3	18	39570432	Nonsense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08		39570432	38506816	111	147238											
ST8SIA5	29906	broad.mit.edu	37	chr18	44272196	44272196	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctggaggctcttccacctgtCgaacagctctgactgcttca	9	14	3	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr18:44272196C>G	uc002lcj.1	-	3	815	c.247G>C	c.(247-249)GAC>CAC	p.D83H	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc010xcy.1_Missense_Mutation_p.D119H|ST8SIA5_uc010xcz.1_Missense_Mutation_p.D52H|ST8SIA5_uc010dno.1_Missense_Mutation_p.D119H	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	83	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TTCCACCTGTCGAACAGCTCT	0.527													G	44272196	C	G	44272196	3	3	287	1	0	0	0	0	1	0	0	0	15234	884	31	5	903	5	ST8SIA5	18	44272196	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	4701764	44272196	33805052	112	147239											
SMAD4	4089	broad.mit.edu	37	chr18	48593393	48593393	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttttttcttcctaaggttgCacataggcaaaggtgtgcag	10	8	1	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr18:48593393C>G	uc010xdp.1	+	10	1682	c.1144C>G	c.(1144-1146)CAC>GAC	p.H382D	SMAD4_uc002lfb.3_Missense_Mutation_p.H227D	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	382	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?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		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)		CCTAAGGTTGCACATAGGCAA	0.333									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				G	48593393	C	G	48593393	3	3	287	1	0	0	0	0	1	0	0	0	14760	710	25	5	1178	5	SMAD4	18	48593393	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	4321197	48593393	29483855	113	147240											
NETO1	81832	broad.mit.edu	37	chr18	70417501	70417501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatctcttgtgctgaggTtactgcggctgcctttagtg	12	9	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr18:70417501T>G	uc002lkw.2	-	9	1621	c.1337A>C	c.(1336-1338)AAC>ACC	p.N446T	NETO1_uc002lkx.1_Missense_Mutation_p.N445T|NETO1_uc002lky.1_Missense_Mutation_p.N446T	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	446	Cytoplasmic (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGTGCTGAGGTTACTGCGGCT	0.463													G	70417501	T	G	70417501	3	3	287	1	0	0	0	0	1	0	0	0	10339	1725	60	5	272	5	NETO1	18	70417501	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	21824108	70417501	7659747	114	147241											
ARID3A	1820	broad.mit.edu	37	chr19	971927	971927	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgccaacctctgctcccaaCaaaggaggcggcggcggcgg	14	15	1	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:971927C>G	uc002lql.2	+	9	1934	c.1644C>G	c.(1642-1644)AAC>AAG	p.N548K		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	548	Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		CTGCTCCCAACAAAGGAggcg	0.532													G	971927	C	G	971927	3	3	287	1	0	0	0	0	1	0	0	0	916	477	17	5	1674	5	ARID3A	19	971927	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08		971927	58157056	115	147242											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668685	8668685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaccacatgtggtccactTtcctccgggctccgagaacc	8	16	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:8668685T>C	uc002mkj.1	-	5	793	c.519A>G	c.(517-519)GAA>GAG	p.E173E	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	173					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GTGGTCCACTTTCCTCCGGGC	0.597													C	8668685	T	C	8668685	2	2	287	1	0	0	0	0	0	0	0	1	256	1838	64	3		3	ADAMTS10	19	8668685	Silent	SNP	T	TCGA-IN-8462-01A-11D-2340-08	7696758	8668685	50460298	116	147243											
ZNF491	126069	broad.mit.edu	37	chr19	11917976	11917976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atatattagaatacatgaaaGaattcacactggagagaaac	7	5	1	4			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:11917976G>T	uc002mso.1	+	3	1493	c.1208G>T	c.(1207-1209)AGA>ATA	p.R403I		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	403	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATACATGAAAGAATTCACACT	0.368													T	11917976	G	T	11917976	3	4	287	1	0	0	0	0	1	0	0	0	17939	942	33	5	1210	5	ZNF491	19	11917976	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	3249291	11917976	47211007	117	147244											
TSHZ3	57616	broad.mit.edu	37	chr19	31769087	31769087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagctaggagtgccgttctGggccttgttgattgcggatg	15	9	1	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:31769087G>T	uc002nsy.3	-	2	1677	c.1612C>A	c.(1612-1614)CAG>AAG	p.Q538K		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	538					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GTGCCGTTCTGGGCCTTGTTG	0.532													T	31769087	G	T	31769087	3	4	287	1	0	0	0	0	1	0	0	0	16622	1357	47	5	1637	5	TSHZ3	19	31769087	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	19851111	31769087	27359896	118	147245											
ZC3H4	23211	broad.mit.edu	37	chr19	47593291	47593305	+	In_Frame_Del	DEL	GTCCTCCTTGCCCAT	GTCCTCCTTGCCCAT	-													tctttggtgaagtcgtcataGtcctccttgcccatgtcctc							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:47593290_47593304AGTCCTCCTTGCCCAT>A	uc002pga.4	-	4	673_687	c.635_649ATGGGCAAGGAGGACT>T	c.(634-651)atgggcaaggaggactat>aTat	p.212_217MGKEDY>I	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	212							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)		AAGTCGTCATAGTCCTCCTTGCCCATGTCCTCCTC	0.567													-	47593305	GTCCTCCTTGCCCAT	-	47593291	7	5	287	1	0	1	0	1	0	0	0	0	17567	1020	36	0	3307	0	ZC3H4	19	47593291	In_Frame_Del	DEL	GTCCTCCTTGCCCAT	TCGA-IN-8462-01A-11D-2340-08	15824204	47593291	11535692	119	147246											
TRPM4	54795	broad.mit.edu	37	chr19	49661469	49661469	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctggatccccaagatcttCaagaagaagacctgcacgac	9	12	2	4			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:49661469C>A	uc002pmw.2	+	2	117	c.45C>A	c.(43-45)TTC>TTA	p.F15L	TRPM4_uc010emu.2_Missense_Mutation_p.F15L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Missense_Mutation_p.F15L|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	15	Cytoplasmic (Potential).				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			ovary(1)|central_nervous_system(1)	2		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)		CCAAGATCTTCAAGAAGAAGA	0.602													A	49661469	C	A	49661469	3	1	287	1	0	0	0	0	1	0	0	0	16585	825	29	5	51	5	TRPM4	19	49661469	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	2068178	49661469	9467514	120	147247											
VRK3	51231	broad.mit.edu	37	chr19	50498471	50498471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatttgtcctggtgaacaccGaaacccatgcaggtagggat	11	9	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:50498471G>A	uc002prg.2	-	8	839	c.741C>T	c.(739-741)TTC>TTT	p.F247F	VRK3_uc002prh.1_Silent_p.F247F|VRK3_uc002pri.1_Silent_p.F197F|VRK3_uc010ens.2_Silent_p.F247F|VRK3_uc010ybl.1_Silent_p.F197F|VRK3_uc010ybm.1_Intron|VRK3_uc002prj.1_Silent_p.F197F|VRK3_uc002prk.1_Silent_p.F247F|VRK3_uc010ent.1_Silent_p.F3F|VRK3_uc002prl.2_Silent_p.F247F|VRK3_uc010ybn.1_Missense_Mutation_p.S225L	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	247	Protein kinase.					nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGTGAACACCGAAACCCATGC	0.562													A	50498471	G	A	50498471	2	1	287	1	0	0	0	0	0	0	0	1	17218	1049	37	1		1	VRK3	19	50498471	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	837002	50498471	8630512	121	147248											
LRRC4B	94030	broad.mit.edu	37	chr19	51022345	51022345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggttgaggtagcgcaGgttgaccagcccctcgaagg	15	12	0	2			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:51022345G>A	uc002pss.2	-	3	762	c.625C>T	c.(625-627)CTG>TTG	p.L209L		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	209	Extracellular (Potential).|LRR 6.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGGTAGCGCAGGTTGACCAGC	0.667													A	51022345	G	A	51022345	2	1	287	1	0	0	0	0	0	0	0	1	9007	991	35	4		4	LRRC4B	19	51022345	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	523874	51022345	8106638	122	147249											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149516	52149516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcctgccatacctgtcaCctccaagttcagcttattct	6	14	3	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:52149516C>A	uc002pxf.3	-	2	535	c.415G>T	c.(415-417)GTG>TTG	p.V139L		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	139	Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ATACCTGTCACCTCCAAGTTC	0.557													A	52149516	C	A	52149516	3	1	287	1	0	0	0	0	1	0	0	0	14309	507	18	5	799	5	SIGLEC14	19	52149516	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	1127171	52149516	6979467	123	147250											
LILRA3	11026	broad.mit.edu	37	chr19	54802027	54802027	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtccccgcgtgggccgaggtCacaggactcatggggaattc	15	12	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:54802027C>T	uc002qfd.2	-	6	1226	c.1161G>A	c.(1159-1161)GTG>GTA	p.V387V	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.V323V	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	387	Ig-like C2-type 4.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCCGAGGTCACAGGACTCA	0.587													T	54802027	C	T	54802027	2	4	287	1	0	0	0	0	0	0	0	1	8786	813	29	4		4	LILRA3	19	54802027	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	2652511	54802027	4326956	124	147251											
FCAR	2204	broad.mit.edu	37	chr19	55396777	55396777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatcataaaaaactccacGtaccgagagataggcagaag	9	8	1	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:55396777G>A	uc002qhr.1	+	3	398	c.201G>A	c.(199-201)ACG>ACA	p.T67T	FCAR_uc002qhq.2_Silent_p.T67T|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T40T|FCAR_uc010esi.1_Silent_p.T40T|FCAR_uc002qhu.1_Silent_p.T67T|FCAR_uc002qhv.1_Silent_p.T67T|FCAR_uc002qhw.1_Silent_p.T55T|FCAR_uc002qhx.1_Silent_p.T55T|FCAR_uc002qhy.1_Silent_p.T55T|FCAR_uc002qhz.1_Silent_p.T55T|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	67	Extracellular (Potential).|Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		AAAACTCCACGTACCGAGAGA	0.488													A	55396777	G	A	55396777	2	1	287	1	0	0	0	0	0	0	0	1	5773	1132	40	1		1	FCAR	19	55396777	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	594750	55396777	3732206	125	147252											
NCR1	9437	broad.mit.edu	37	chr19	55421410	55421410	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaccagccttgcacctgaaGaccccacctttcctggtgag	8	16	0	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr19:55421410G>A	uc002qib.2	+	5	705	c.667G>A	c.(667-669)GAC>AAC	p.D223N	NCR1_uc002qic.2_Missense_Mutation_p.D223N|NCR1_uc002qie.2_Missense_Mutation_p.D223N|NCR1_uc002qid.2_Missense_Mutation_p.D128N|NCR1_uc002qif.2_Missense_Mutation_p.D128N|NCR1_uc010esj.2_Missense_Mutation_p.D116N	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	223	Extracellular (Potential).				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			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		TGCACCTGAAGACCCCACCTT	0.438													A	55421410	G	A	55421410	3	1	287	1	0	0	0	0	1	0	0	0	10237	942	33	4	685	4	NCR1	19	55421410	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	24633	55421410	3707573	126	147253											
NCOA3	8202	broad.mit.edu	37	chr20	46264741	46264742	+	In_Frame_Ins	INS	-	-	TTTATCTAC													aaggtgtggggacttcccttINSttatctactctgtcatcacc							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr20:46264740_46264741T>TTTTATCTAC	uc002xtk.3	+	11	1871_1872	c.1610_1611T>TTTTATCTAC	c.(1609-1611)ctt>cTTTTATCTAC	p.539_540insLS	NCOA3_uc002xtl.3_In_Frame_Ins_p.539_540insLS|NCOA3_uc002xtn.3_In_Frame_Ins_p.539_540insLS|NCOA3_uc010ght.2_In_Frame_Ins_p.549_550insLS|NCOA3_uc002xtm.3_In_Frame_Ins_p.539_540insLS|NCOA3_uc010zyc.2_In_Frame_Ins_p.334_335insLS	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	539	Ser-rich.				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						GGGACTTCCCTTTTATCTACTC	0.48													TTTATCTAC	46264742	-	TTTATCTAC	46264741	7	5	287	1	0	1	1	0	0	0	0	0	10230	1828	64	0	1679	0	NCOA3	20	46264741	In_Frame_Ins	INS	-	TCGA-IN-8462-01A-11D-2340-08		46264741	16760779	127	147254											
PIWIL3	440822	broad.mit.edu	37	chr22	25153973	25153973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcaagggcgctgtaTgcaacccagcctcaggtcca	10	15	2	0	rs142994368	byFrequency	TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr22:25153973T>C	uc003abd.1	-	4	674	c.257A>G	c.(256-258)CAT>CGT	p.H86R	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.H86R	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	86					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						GGGCGCTGTATGCAACCCAGC	0.438													C	25153973	T	C	25153973	3	2	287	1	0	0	0	0	1	0	0	0	11959	1464	51	3	2463	3	PIWIL3	22	25153973	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08		25153973	26150593	128	147255											
TCF20	6942	broad.mit.edu	37	chr22	42610573	42610574	+	In_Frame_Ins	INS	-	-	AGG													aaacgctgtggtgaagggaaINSggaggaggaggaggaggagg							TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chr22:42610572_42610573A>AAGG	uc003bcj.1	-	0	873_874	c.739_740T>CCTT	c.(739-741)ttc>CCTTc	p.F247P	TCF20_uc003bck.1_In_Frame_Ins_p.F247P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	247	Ser-rich.				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						TGGTGAAGGGAaggaggaggag	0.5													AGG	42610574	-	AGG	42610573	7	5	287	1	0	1	1	0	0	0	0	0	15687	72	3	0	5181	0	TCF20	22	42610573	In_Frame_Ins	INS	-	TCGA-IN-8462-01A-11D-2340-08	17456600	42610573	8693993	129	147256											
CCNB3	85417	broad.mit.edu	37	chrX	50085293	50085293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgcaagaaggataagttAcaactccttggtgccactgc	10	9	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chrX:50085293A>G	uc004dox.3	+	9	3907	c.3609A>G	c.(3607-3609)TTA>TTG	p.L1203L	CCNB3_uc004doy.2_Silent_p.L1203L|CCNB3_uc004doz.2_Silent_p.L99L|CCNB3_uc010njq.2_Silent_p.L95L|CCNB3_uc004dpa.2_Silent_p.L42L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1203					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					AGGATAAGTTACAACTCCTTG	0.473													G	50085293	A	G	50085293	2	3	287	1	0	0	0	0	0	0	0	1	2914	388	14	3		3	CCNB3	23	50085293	Silent	SNP	A	TCGA-IN-8462-01A-11D-2340-08		50085293	105185267	130	147257											
HEPH	9843	broad.mit.edu	37	chrX	65483491	65483491	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccccccaaccagaacacTtaagccctctcaccgtcatc	3	19	2	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chrX:65483491T>G	uc011moz.1	+	20	3274	c.3214T>G	c.(3214-3216)TTA>GTA	p.L1072V	HEPH_uc004dwn.2_Missense_Mutation_p.L1072V|HEPH_uc004dwo.2_Missense_Mutation_p.L802V|HEPH_uc010nkr.2_Missense_Mutation_p.L880V|HEPH_uc011mpa.1_Missense_Mutation_p.L1072V	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1069	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						ACCAGAACACTTAAGCCCTCT	0.438													G	65483491	T	G	65483491	3	3	287	1	0	0	0	0	1	0	0	0	7054	1606	56	5	3445	5	HEPH	23	65483491	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	15398198	65483491	89787069	131	147258											
AR	367	broad.mit.edu	37	chrX	66765882	66765882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctgctagacgacagCgcaggcaagagcactgaaga	13	10	1	4			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chrX:66765882C>T	uc004dwu.1	+	1	2009	c.894C>T	c.(892-894)AGC>AGT	p.S298S	AR_uc011mpd.1_Silent_p.S298S|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.S298S	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	296	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			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	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)	TAGACGACAGCGCAGGCAAGA	0.572									Androgen_Insensitivity_Syndrome				T	66765882	C	T	66765882	2	4	287	1	0	0	0	0	0	0	0	1	836	767	27	1		1	AR	23	66765882	Silent	SNP	C	TCGA-IN-8462-01A-11D-2340-08	1282391	66765882	88504678	132	147259											
KLHL4	56062	broad.mit.edu	37	chrX	86877278	86877278	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctaatgaaatttcaaaacTtctgtgcagtgatgacatta	7	6	2	3			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chrX:86877278T>G	uc004efb.2	+	5	1174	c.992T>G	c.(991-993)CTT>CGT	p.L331R	KLHL4_uc004efa.2_Missense_Mutation_p.L331R	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	331						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ATTTCAAAACTTCTGTGCAGT	0.398													G	86877278	T	G	86877278	3	3	287	1	0	0	0	0	1	0	0	0	8391	1609	56	5	1010	5	KLHL4	23	86877278	Missense_Mutation	SNP	T	TCGA-IN-8462-01A-11D-2340-08	20111396	86877278	68393282	133	147260											
AKAP14	158798	broad.mit.edu	37	chrX	119037549	119037549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaattgacgaatatttttcGgtaagttaggccgaccactc	8	9	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chrX:119037549G>A	uc004ese.2	+	4	399	c.261G>A	c.(259-261)TCG>TCA	p.S87S	AKAP14_uc004esd.2_Silent_p.S87S|AKAP14_uc004esf.2_Silent_p.S87S	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	87						cytoplasm					0						AATATTTTTCGGTAAGTTAGG	0.413													A	119037549	G	A	119037549	2	1	287	1	0	0	0	0	0	0	0	1	450	1130	39	1		1	AKAP14	23	119037549	Silent	SNP	G	TCGA-IN-8462-01A-11D-2340-08	32160271	119037549	36233011	134	147261											
ZNF75D	7626	broad.mit.edu	37	chrX	134426308	134426308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttctggaacacacccattGgttggggctctgctggcttc	11	12	2	0			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chrX:134426308G>T	uc004eyp.2	-	4	3158	c.503C>A	c.(502-504)CCA>CAA	p.P168Q	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	168					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CACACCCATTGGTTGGGGCTC	0.507													T	134426308	G	T	134426308	3	4	287	1	0	0	0	0	1	0	0	0	18131	1348	47	5	1045	5	ZNF75D	23	134426308	Missense_Mutation	SNP	G	TCGA-IN-8462-01A-11D-2340-08	15388759	134426308	20844252	135	147262											
PNMA5	114824	broad.mit.edu	37	chrX	152159886	152159886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacttcccaggagccaCcctttcctggtatgtgactg	8	16	0	1			TCGA-IN-8462-01A-11D-2340-08	TCGA-IN-8462-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c924532b-9a64-43cd-8d71-30c832d3214d	eb8505c1-8121-4be9-9e58-889c9d7cb1e0	g.chrX:152159886C>T	uc010ntw.2	-	3	596	c.257G>A	c.(256-258)GGT>GAT	p.G86D	PNMA5_uc004fha.3_Missense_Mutation_p.G86D|PNMA5_uc010ntx.2_Missense_Mutation_p.G86D|PNMA5_uc004fgy.3_Missense_Mutation_p.G86D	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	86					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ccaggagccaccctttcctgg	0													T	152159886	C	T	152159886	3	4	287	1	0	0	0	0	1	0	0	0	12156	507	18	4	1093	4	PNMA5	23	152159886	Missense_Mutation	SNP	C	TCGA-IN-8462-01A-11D-2340-08	17733578	152159886	3110674	136	147263											
CA6	765	broad.mit.edu	37	chr1	9017326	9017326	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgagcacaccgtggacggGatcagacatgtgatcgaggt	14	9	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:9017326G>T	uc001apm.2	+	3	414	c.390G>T	c.(388-390)GGG>GGT	p.G130G	CA6_uc009vmn.2_Silent_p.G70G	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	130					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|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;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGGACGGGATCAGACATG	0.478													T	9017326	G	T	9017326	2	4	288	1	0	0	0	0	0	0	0	1	2521	1161	41	5		5	CA6	1	9017326	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08		9017326	240233295	1	147264											
KIF17	57576	broad.mit.edu	37	chr1	21031239	21031239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgcccgtccaccagcgccGagatgacattgcccagtgcc	11	17	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:21031239G>A	uc001bdr.3	-	5	942	c.824C>T	c.(823-825)TCG>TTG	p.S275L	KIF17_uc001bds.3_Missense_Mutation_p.S275L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	275					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		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)		CACCAGCGCCGAGATGACATT	0.667													A	21031239	G	A	21031239	3	1	288	1	0	0	0	0	1	0	0	0	8279	1059	37	1	2309	1	KIF17	1	21031239	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	12013913	21031239	228219382	2	147265											
PTPRU	10076	broad.mit.edu	37	chr1	29641952	29641952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatggcagagtgtgaggGcgtcgtggacatttacaact	15	7	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:29641952G>A	uc001bru.2	+	24	3436	c.3326G>A	c.(3325-3327)GGC>GAC	p.G1109D	PTPRU_uc001brv.2_Missense_Mutation_p.G1105D|PTPRU_uc001brw.2_Missense_Mutation_p.G1099D|PTPRU_uc009vtq.2_Missense_Mutation_p.G1105D|PTPRU_uc009vtr.2_Missense_Mutation_p.G1096D	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1109	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		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)		GAGTGTGAGGGCGTCGTGGAC	0.592													A	29641952	G	A	29641952	3	1	288	1	0	0	0	0	1	0	0	0	12813	1203	42	2	3442	2	PTPRU	1	29641952	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	8610713	29641952	219608669	3	147266											
TIE1	7075	broad.mit.edu	37	chr1	43778820	43778820	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggcctccagcccccCgacacctccacgcccaggcc	8	25	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:43778820C>T	uc001ciu.2	+	13	2021	c.1942C>T	c.(1942-1944)CGA>TGA	p.R648*	TIE1_uc010okd.1_Nonsense_Mutation_p.R648*|TIE1_uc010oke.1_Nonsense_Mutation_p.R603*|TIE1_uc009vwq.2_Nonsense_Mutation_p.R604*|TIE1_uc010okf.1_Nonsense_Mutation_p.R293*|TIE1_uc010okg.1_Nonsense_Mutation_p.R293*	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	648	Fibronectin type-III 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAGCCCCCCGACACCTCCA	0.627													T	43778820	C	T	43778820	4	4	288	1	0	0	0	0	0	1	0	0	15890	644	23	1	1992	1	TIE1	1	43778820	Nonsense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	14136868	43778820	205471801	4	147267											
ATG4C	84938	broad.mit.edu	37	chr1	63282426	63282426	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggtggggctgcacattgaGaactggccagatgctcttgg	16	8	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:63282426G>A	uc001dat.2	+	4	503	c.341G>A	c.(340-342)AGA>AAA	p.R114K	ATG4C_uc001dau.2_Missense_Mutation_p.R114K	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	114					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						TGCACATTGAGAACTGGCCAG	0.378													A	63282426	G	A	63282426	3	1	288	1	0	0	0	0	1	0	0	0	1098	942	33	4	351	4	ATG4C	1	63282426	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	19503606	63282426	185968195	5	147268											
NEGR1	257194	broad.mit.edu	37	chr1	72400786	72400786	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagttagatgcacctgcaTtgttctgggtgtatgttgag	12	7	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:72400786T>G	uc001dfw.2	-	2	485	c.385A>C	c.(385-387)ATG>CTG	p.M129L	NEGR1_uc001dfv.2_Missense_Mutation_p.M1L|NEGR1_uc010oqs.1_Missense_Mutation_p.M129L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	129	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		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)		TGCACCTGCATTGTTCTGGGT	0.373													G	72400786	T	G	72400786	3	3	288	1	0	0	0	0	1	0	0	0	10317	1493	52	5	703	5	NEGR1	1	72400786	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	9118360	72400786	176849835	6	147269											
OLFM3	118427	broad.mit.edu	37	chr1	102302454	102302454	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccagtagttggcgaAgttgcctgcttttggcatcc	10	11	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:102302454A>G	uc001duf.2	-	2	328	c.257T>C	c.(256-258)CTT>CCT	p.L86P	OLFM3_uc001dug.2_Missense_Mutation_p.L66P|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	86	Potential.					extracellular region				ovary(2)|skin(1)	3		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)		TAGTTGGCGAAGTTGCCTGCT	0.463													G	102302454	A	G	102302454	3	3	288	1	0	0	0	0	1	0	0	0	10854	72	3	3	1199	3	OLFM3	1	102302454	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	29901668	102302454	146948167	7	147270											
KIRREL	55243	broad.mit.edu	37	chr1	158057634	158057634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaggccacagccaaccccGagatcttgggctacaggtga	12	14	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:158057634G>A	uc001frn.3	+	6	1155	c.751G>A	c.(751-753)GAG>AAG	p.E251K	KIRREL_uc010pib.1_Missense_Mutation_p.E151K|KIRREL_uc009wsq.2_Missense_Mutation_p.E87K|KIRREL_uc001fro.3_Missense_Mutation_p.E49K	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	251	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					AGCCAACCCCGAGATCTTGGG	0.597											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	158057634	G	A	158057634	3	1	288	1	0	0	0	0	1	0	0	0	8324	1059	37	1	773	1	KIRREL	1	158057634	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	55755180	158057634	91192987	8	147271											
OR10X1	128367	broad.mit.edu	37	chr1	158549035	158549035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagcaaaccagacactgAgatcagtgttataatgaatt	7	9	1	3	rs141124758		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:158549035A>G	uc010pin.1	-	1	655	c.655T>C	c.(655-657)TCA>CCA	p.S219P		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CCAGACACTGAGATCAGTGTT	0.448													G	158549035	A	G	158549035	3	3	288	1	0	0	0	0	1	0	0	0	10922	304	11	3	320	3	OR10X1	1	158549035	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	491401	158549035	90701586	9	147272											
BAT2L2	23215	broad.mit.edu	37	chr1	171506531	171506531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttctgagcctcgtatgcTgtgggggtcagatccctatc	11	12	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:171506531T>C	uc010pmg.1	+	15	2683	c.2417T>C	c.(2416-2418)CTG>CCG	p.L806P	BAT2L2_uc010pmh.1_5'Flank	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	806							protein C-terminus binding				0						CCTCGTATGCTGTGGGGGTCA	0.458													C	171506531	T	C	171506531	3	2	288	1	0	0	0	0	1	0	0	0	1321	1580	55	3	2471	3	BAT2L2	1	171506531	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	12957496	171506531	77744090	10	147273											
TNN	63923	broad.mit.edu	37	chr1	175066623	175066623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccatctcctgggacccGgtacaggccaccattgacaa	9	16	1	1	rs147951218		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:175066623G>A	uc001gkl.1	+	8	1772	c.1659G>A	c.(1657-1659)CCG>CCA	p.P553P	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	553	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGGGACCCGGTACAGGCCA	0.542													A	175066623	G	A	175066623	2	1	288	1	0	0	0	0	0	0	0	1	16320	1103	39	1		1	TNN	1	175066623	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	3560092	175066623	74183998	11	147274											
NPHS2	7827	broad.mit.edu	37	chr1	179544780	179544780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcggtgccctcctcgcCggagcctcggacctcatcca	9	20	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:179544780C>T	uc001gmq.3	-	1	305	c.220G>A	c.(220-222)GGC>AGC	p.G74S	NPHS2_uc009wxi.2_Missense_Mutation_p.G74S	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	74	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						CCCTCCTCGCCGGAGCCTCGG	0.706													T	179544780	C	T	179544780	3	4	288	1	0	0	0	0	1	0	0	0	10583	652	23	1	963	1	NPHS2	1	179544780	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	4478157	179544780	69705841	12	147275											
FAM5C	339479	broad.mit.edu	37	chr1	190234081	190234081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagaagcggctagctgatGtagcgtctccagagtgaccg	13	9	1	4			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:190234081G>A	uc001gse.1	-	4	764	c.532C>T	c.(532-534)CAT>TAT	p.H178Y	FAM5C_uc010pot.1_Missense_Mutation_p.H76Y	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	178						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GCTAGCTGATGTAGCGTCTCC	0.468													A	190234081	G	A	190234081	3	1	288	1	0	0	0	0	1	0	0	0	5594	1377	48	4	1788	4	FAM5C	1	190234081	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	10689301	190234081	59016540	13	147276											
PTPRC	5788	broad.mit.edu	37	chr1	198719705	198719705	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggcagatgatcttccaaAgaaaagtcaaagttattgtt	8	5	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:198719705A>C	uc001gur.1	+	29	3331	c.3151A>C	c.(3151-3153)AGA>CGA	p.R1051R	PTPRC_uc001gus.1_Silent_p.R1003R|PTPRC_uc001gut.1_Silent_p.R890R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1051	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				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(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GATCTTCCAAAGAAAAGTCAA	0.388													C	198719705	A	C	198719705	2	2	288	1	0	0	0	0	0	0	0	1	12797	64	3	5		5	PTPRC	1	198719705	Silent	SNP	A	TCGA-IN-8663-01A-11D-2394-08	8485624	198719705	50530916	14	147277											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200823978	200823978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcatcgctgaacacggGtgataacgagagtgtacatt	12	7	0	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:200823978G>A	uc001gvl.2	+	15	4160	c.3890G>A	c.(3889-3891)GGT>GAT	p.G1297D	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.G1286D|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.G1270D	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1297						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CTGAACACGGGTGATAACGAG	0.343													A	200823978	G	A	200823978	3	1	288	1	0	0	0	0	1	0	0	0	2612	1261	44	4	3911	4	CAMSAP1L1	1	200823978	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	2104273	200823978	48426643	15	147278											
LEFTY1	10637	broad.mit.edu	37	chr1	226075298	226075298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcacggcctcggtcaCgtcgaaggccttccagccgc	12	15	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:226075298C>T	uc001hpo.2	-	3	608	c.538G>A	c.(538-540)GTG>ATG	p.V180M	LEFTY1_uc010pvj.1_Missense_Mutation_p.R288H|LEFTY1_uc009xej.1_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	180					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				0	Breast(184;0.197)					GCCTCGGTCACGTCGAAGGCC	0.697													T	226075298	C	T	226075298	3	4	288	1	0	0	0	0	1	0	0	0	8715	536	19	1	570	1	LEFTY1	1	226075298	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	25251320	226075298	23175323	16	147279											
OR2G2	81470	broad.mit.edu	37	chr1	247752495	247752495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggcaagtttgtttcTctcttctacactgtggtaac	9	10	3	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:247752495T>C	uc010pyy.1	+	1	834	c.834T>C	c.(832-834)TCT>TCC	p.S278S		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			AGTTTGTTTCTCTCTTCTACA	0.363													C	247752495	T	C	247752495	2	2	288	1	0	0	0	0	0	0	0	1	10998	1538	54	3		3	OR2G2	1	247752495	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	21677197	247752495	1498126	17	147280											
OR2T12	127064	broad.mit.edu	37	chr1	248458004	248458004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggcttccttgacctcacTgttcctcacactgtagatga	8	13	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:248458004T>C	uc010pzj.1	-	1	877	c.877A>G	c.(877-879)AGT>GGT	p.S293G		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S293N(1)		skin(2)|ovary(1)	3	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)			TTGACCTCACTGTTCCTCACA	0.483													C	248458004	T	C	248458004	3	2	288	1	0	0	0	0	1	0	0	0	11019	1580	55	3	88	3	OR2T12	1	248458004	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	705509	248458004	792617	18	147281											
SNTG2	54221	broad.mit.edu	37	chr2	1241710	1241710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagtcagctctgggatccTccggttttacacagcccagg	12	13	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:1241710T>C	uc002qwq.2	+	10	898	c.770T>C	c.(769-771)CTC>CCC	p.L257P	SNTG2_uc010ewi.2_Missense_Mutation_p.L130P	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	257					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	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)		TCTGGGATCCTCCGGTTTTAC	0.642													C	1241710	T	C	1241710	3	2	288	1	0	0	0	0	1	0	0	0	14875	1551	54	3	808	3	SNTG2	2	1241710	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08		1241710	241957663	19	147282											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917808	10917808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgataggcctgctgcggGgcagaccgacagagagagag	16	11	0	4	rs117054621	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:10917808G>A	uc002ras.2	+	11	1032	c.923G>A	c.(922-924)GGG>GAG	p.G308E	ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	308					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCTGCTGCGGGGCAGACCGAC	0.597													A	10917808	G	A	10917808	3	1	288	1	0	0	0	0	1	0	0	0	1181	1232	43	4	961	4	ATP6V1C2	2	10917808	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	9676098	10917808	232281565	20	147283											
ADCY3	109	broad.mit.edu	37	chr2	25141312	25141312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaggctgaggggcagcGtgatgaagaaggagaagaca	19	5	0	7			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:25141312G>A	uc002rfs.3	-	1	744	c.545C>T	c.(544-546)ACG>ATG	p.T182M	ADCY3_uc010ykm.1_Missense_Mutation_p.T182M	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	182	Helical; (Potential).				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			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGGCAGCGTGATGAAGAA	0.627													A	25141312	G	A	25141312	3	1	288	1	0	0	0	0	1	0	0	0	295	1145	40	1	2973	1	ADCY3	2	25141312	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	14223504	25141312	218058061	21	147284											
ALMS1	7840	broad.mit.edu	37	chr2	73716933	73716933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaaatgaccagaggacGgcagaacccatcatcatgca	9	12	3	4			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:73716933G>A	uc002sje.1	+	12	7961	c.7850G>A	c.(7849-7851)CGG>CAG	p.R2617Q	ALMS1_uc002sjf.1_Missense_Mutation_p.R2573Q|ALMS1_uc002sjg.2_Missense_Mutation_p.R2003Q|ALMS1_uc002sjh.1_Missense_Mutation_p.R2003Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2615					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACCAGAGGACGGCAGAACCCA	0.453													A	73716933	G	A	73716933	3	1	288	1	0	0	0	0	1	0	0	0	535	1116	39	1	7882	1	ALMS1	2	73716933	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	48575621	73716933	169482440	22	147285											
LRP2	4036	broad.mit.edu	37	chr2	170131608	170131608	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagggaagcctggtagTacacttgtgggttggtctct	14	9	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:170131608T>G	uc002ues.2	-	14	2126	c.1913A>C	c.(1912-1914)TAC>TCC	p.Y638S	LRP2_uc010zdf.1_Missense_Mutation_p.Y569S	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	638	LDL-receptor class B 5.|Extracellular (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			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				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)	AGCCTGGTAGTACACTTGTGG	0.493													G	170131608	T	G	170131608	3	3	288	1	0	0	0	0	1	0	0	0	8956	1638	57	5	12318	5	LRP2	2	170131608	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	96414675	170131608	73067765	23	147286											
GAD1	2571	broad.mit.edu	37	chr2	171700589	171700589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaccagtgtttgtcctcAtggaacaaataacacttaag	7	9	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:171700589A>G	uc002ugi.2	+	7	1095	c.673A>G	c.(673-675)ATG>GTG	p.M225V		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	225					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			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTTTGTCCTCATGGAACAAAT	0.373													G	171700589	A	G	171700589	3	3	288	1	0	0	0	0	1	0	0	0	6179	217	8	3	736	3	GAD1	2	171700589	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	1568981	171700589	71498784	24	147287											
SLC25A12	8604	broad.mit.edu	37	chr2	172690559	172690559	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagcgtatggcactctgggcAaattcctctggaacagagaa	11	9	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:172690559A>T	uc002uhh.2	-	8	848	c.759T>A	c.(757-759)TTT>TTA	p.F253L	SLC25A12_uc010fqh.2_Missense_Mutation_p.F146L|SLC25A12_uc010zdv.1_RNA	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	253					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CACTCTGGGCAAATTCCTCTG	0.328													T	172690559	A	T	172690559	3	4	288	1	0	0	0	0	1	0	0	0	14474	127	5	5	1321	5	SLC25A12	2	172690559	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	989970	172690559	70508814	25	147288											
HOXD8	3234	broad.mit.edu	37	chr2	176995668	176995668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttccgtggatgagaccaCaaggttgggatgcatttttt	12	6	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:176995668C>A	uc002uko.2	+	1	1192	c.574C>A	c.(574-576)CAA>AAA	p.Q192K	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Missense_Mutation_p.Q8K|HOXD8_uc002ukp.2_Missense_Mutation_p.Q192K	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	192					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GATGAGACCACAAGGTTGGGA	0.463													A	176995668	C	A	176995668	3	1	288	1	0	0	0	0	1	0	0	0	7325	479	17	5	576	5	HOXD8	2	176995668	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	4305109	176995668	66203705	26	147289											
TTN	7273	broad.mit.edu	37	chr2	179472135	179472135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacattccttaccaaaaacTtctaccctggctgctgcaaa	4	14	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:179472135T>G	uc010zfg.1	-	226	45800	c.45576A>C	c.(45574-45576)GAA>GAC	p.E15192D	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8887D|TTN_uc010zfi.1_Missense_Mutation_p.E8820D|TTN_uc010zfj.1_Missense_Mutation_p.E8695D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16119							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAAAACTTCTACCCTGG	0.383													G	179472135	T	G	179472135	3	3	288	1	0	0	0	0	1	0	0	0	16732	1606	56	5	54757	5	TTN	2	179472135	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	2476467	179472135	63727238	27	147290											
CWC22	57703	broad.mit.edu	37	chr2	180815583	180815583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagacctatagaagtaaagaAgttgatggcaaaccgagtgt	11	5	0	4			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:180815583A>C	uc010frh.1	-	18	2188	c.1888T>G	c.(1888-1890)TTC>GTC	p.F630V	CWC22_uc002uno.2_Missense_Mutation_p.F152V|CWC22_uc002unp.2_Missense_Mutation_p.F630V	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	630						catalytic step 2 spliceosome	protein binding|RNA binding				0						GAAGTAAAGAAGTTGATGGCA	0.313													C	180815583	A	C	180815583	3	2	288	1	0	0	0	0	1	0	0	0	4068	72	3	5	850	5	CWC22	2	180815583	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	1343448	180815583	62383790	28	147291											
PLCL1	5334	broad.mit.edu	37	chr2	198950817	198950817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaaaggcacagaagcGcagtctttcagtgagaatgg	15	6	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:198950817G>A	uc010fsp.2	+	2	2867	c.2576G>A	c.(2575-2577)CGC>CAC	p.R859H	PLCL1_uc002uuv.3_Missense_Mutation_p.R780H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	859					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	GCACAGAAGCGCAGTCTTTCA	0.438													A	198950817	G	A	198950817	3	1	288	1	0	0	0	0	1	0	0	0	12039	1087	38	1	2582	1	PLCL1	2	198950817	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	18135234	198950817	44248556	29	147292											
NBEAL1	65065	broad.mit.edu	37	chr2	204055113	204055113	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctgtcaattattaaagGtaagtcaacaacttaagaag	6	8	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:204055113G>A	uc002uzt.3	+	45	7167	c.6834_splice	c.e45+1	p.K2278_splice	NBEAL1_uc002uzs.3_Splice_Site_p.K988_splice	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3								binding			ovary(1)|skin(1)	2						ATTATTAAAGGTAAGTCAACA	0.338													A	204055113	G	A	204055113	5	1	288	1	0	0	0	0	0	0	1	0	10188	1275	44	4	7009	4	NBEAL1	2	204055113	Splice_Site	SNP	G	TCGA-IN-8663-01A-11D-2394-08	5104296	204055113	39144260	30	147293											
NPPC	4880	broad.mit.edu	37	chr2	232790333	232790333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcgcccttgagattggcGcccccgcccccgggagcctt	13	18	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:232790333G>A	uc002vsl.1	-	2	183	c.183C>T	c.(181-183)GGC>GGT	p.G61G		NM_024409	NP_077720	P23582	ANFC_HUMAN	natriuretic peptide precursor C precursor	61					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity				0		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		TGAGATTGGCGCCCCCGCCCC	0.731													A	232790333	G	A	232790333	2	1	288	1	0	0	0	0	0	0	0	1	10593	1074	38	1		1	NPPC	2	232790333	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	28735220	232790333	10409040	31	147294											
COL6A3	1293	broad.mit.edu	37	chr2	238283448	238283448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcagggtcagctggcGgacagcgttgacgacgtcct	14	13	1	1	rs114852262	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:238283448G>A	uc002vwl.2	-	8	3571	c.3286C>T	c.(3286-3288)CGC>TGC	p.R1096C	COL6A3_uc002vwo.2_Missense_Mutation_p.R890C|COL6A3_uc010znj.1_Missense_Mutation_p.R489C|COL6A3_uc002vwq.2_Missense_Mutation_p.R890C|COL6A3_uc002vwr.2_Missense_Mutation_p.R689C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1096	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		GTCAGCTGGCGGACAGCGTTG	0.637													A	238283448	G	A	238283448	3	1	288	1	0	0	0	0	1	0	0	0	3701	1116	39	1	6442	1	COL6A3	2	238283448	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	5493115	238283448	4915925	32	147295											
SCN5A	6331	broad.mit.edu	37	chr3	38651268	38651268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggattcccagaccaagccGtcggcctccacggagccgtt	12	15	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:38651268G>A	uc003cio.2	-	7	1085	c.891C>T	c.(889-891)GAC>GAT	p.D297D	SCN5A_uc003cin.2_Silent_p.D297D|SCN5A_uc003cil.3_Silent_p.D297D|SCN5A_uc010hhi.2_Silent_p.D297D|SCN5A_uc010hhk.2_Silent_p.D297D|SCN5A_uc011ayr.1_Silent_p.D297D|SCN5A_uc010hhl.1_Silent_p.D120D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	297					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			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	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)	AGACCAAGCCGTCGGCCTCCA	0.602													A	38651268	G	A	38651268	2	1	288	1	0	0	0	0	0	0	0	1	13922	1136	40	1		1	SCN5A	3	38651268	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08		38651268	159371162	33	147296											
SCN10A	6336	broad.mit.edu	37	chr3	38783917	38783917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcacaagcccaaagagAattgtcttgagcttcaccca	7	13	3	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:38783917A>C	uc003ciq.2	-	13	1971	c.1971T>G	c.(1969-1971)ATT>ATG	p.I657M		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	657					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	GCCCAAAGAGAATTGTCTTGA	0.532													C	38783917	A	C	38783917	3	2	288	1	0	0	0	0	1	0	0	0	13912	242	9	5	3959	5	SCN10A	3	38783917	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	132649	38783917	159238513	34	147297											
GRM2	2912	broad.mit.edu	37	chr3	51746690	51746690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtctgagggcgactatggcGagacaggcattgaggccttt	15	9	1	3	rs143196180		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:51746690G>A	uc010hlv.2	+	3	891	c.652G>A	c.(652-654)GAG>AAG	p.E218K	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	218	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				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)	CGACTATGGCGAGACAGGCAT	0.592													A	51746690	G	A	51746690	3	1	288	1	0	0	0	0	1	0	0	0	6797	1059	37	1	658	1	GRM2	3	51746690	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	12962773	51746690	146275740	35	147298											
PPP4R2	151987	broad.mit.edu	37	chr3	73108206	73108206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtatcccttttactattcaGcgactatgtgaattgttaac	6	8	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:73108206G>T	uc003dph.1	+	4	376	c.306G>T	c.(304-306)CAG>CAT	p.Q102H	PPP4R2_uc003dpi.1_Missense_Mutation_p.Q45H|FLJ10213_uc003dpj.2_5'Flank	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	102					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TTACTATTCAGCGACTATGTG	0.308													T	73108206	G	T	73108206	3	4	288	1	0	0	0	0	1	0	0	0	12404	962	34	5	320	5	PPP4R2	3	73108206	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	21361516	73108206	124914224	36	147299											
CNTN3	5067	broad.mit.edu	37	chr3	74411082	74411082	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcccccttcttccaggaAgagagtgcccttggggaggc	12	13	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:74411082A>C	uc003dpm.1	-	10	1403	c.1323T>G	c.(1321-1323)TCT>TCG	p.S441S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	441	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		TCTTCCAGGAAGAGAGTGCCC	0.478													C	74411082	A	C	74411082	2	2	288	1	0	0	0	0	0	0	0	1	3642	59	3	5		5	CNTN3	3	74411082	Silent	SNP	A	TCGA-IN-8663-01A-11D-2394-08	1302876	74411082	123611348	37	147300											
ROBO1	6091	broad.mit.edu	37	chr3	78649331	78649331	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttctgcaatatttcTtcgacctacatttgcttgtt	5	10	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:78649331T>G	uc003dqe.2	-	30	5081	c.4873A>C	c.(4873-4875)AGA>CGA	p.R1625R	ROBO1_uc003dqb.2_Silent_p.R1586R|ROBO1_uc003dqc.2_Silent_p.R1525R|ROBO1_uc003dqd.2_Silent_p.R1580R|ROBO1_uc010hoh.2_Silent_p.R817R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1625	Cytoplasmic (Potential).				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			large_intestine(2)	2		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)		GCAATATTTCTTCGACCTACA	0.373													G	78649331	T	G	78649331	2	3	288	1	0	0	0	0	0	0	0	1	13513	1617	56	5		5	ROBO1	3	78649331	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	4238249	78649331	119373099	38	147301											
BCHE	590	broad.mit.edu	37	chr3	165503945	165503945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacacacctgtcatttccaAgacttttggaaaaaatgatg	7	8	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:165503945A>C	uc003fem.3	-	3	1832	c.1672T>G	c.(1672-1674)TTG>GTG	p.L558V	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	558					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			ovary(3)|pancreas(1)	4					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)	GTCATTTCCAAGACTTTTGGA	0.358													C	165503945	A	C	165503945	3	2	288	1	0	0	0	0	1	0	0	0	1358	69	3	5	144	5	BCHE	3	165503945	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	86854614	165503945	32518485	39	147302											
ATP11B	23200	broad.mit.edu	37	chr3	182631761	182631761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacgagttataggaagatGtagtccaacccacatcagca	10	9	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:182631761G>A	uc003flb.2	+	29	3688	c.3431G>A	c.(3430-3432)TGT>TAT	p.C1144Y	ATP11B_uc003flc.2_Missense_Mutation_p.C728Y|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_3'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1144	Cytoplasmic (Potential).				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			ovary(2)|pancreas(1)	3	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)			ATAGGAAGATGTAGTCCAACC	0.483													A	182631761	G	A	182631761	3	1	288	1	0	0	0	0	1	0	0	0	1120	1377	48	4	3545	4	ATP11B	3	182631761	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	17127816	182631761	15390669	40	147303											
MAEA	10296	broad.mit.edu	37	chr4	1316182	1316182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaggacctagtgaataTtgagatgttcctgacggcca	10	9	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:1316182T>C	uc003gda.2	+	4	500	c.470T>C	c.(469-471)ATT>ACT	p.I157T	MAEA_uc010ibs.1_Intron|MAEA_uc003gdb.2_Intron|MAEA_uc011bvb.1_Missense_Mutation_p.I89T|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.I156T|MAEA_uc011bvd.1_Missense_Mutation_p.I109T|MAEA_uc010ibt.2_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	157					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CTAGTGAATATTGAGATGTTC	0.607													C	1316182	T	C	1316182	3	2	288	1	0	0	0	0	1	0	0	0	9153	1493	52	3	484	3	MAEA	4	1316182	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08		1316182	189838094	41	147304											
ADAMTS3	9508	broad.mit.edu	37	chr4	73148877	73148877	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctaaggtggatgatctTgtcggacgtctgttgtcaat	11	7	4	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:73148877T>G	uc003hgk.1	-	22	3631	c.3594A>C	c.(3592-3594)ACA>ACC	p.T1198T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1198					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			TGGATGATCTTGTCGGACGTC	0.443													G	73148877	T	G	73148877	2	3	288	1	0	0	0	0	0	0	0	1	267	1799	63	5		5	ADAMTS3	4	73148877	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	71832695	73148877	118005399	42	147305											
MMRN1	22915	broad.mit.edu	37	chr4	90849051	90849051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgaatgatgtaaggaAcacttactcctccctagaag	9	9	0	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:90849051A>C	uc003hst.2	+	5	1132	c.1061A>C	c.(1060-1062)AAC>ACC	p.N354T	MMRN1_uc010iku.2_Missense_Mutation_p.N320T|MMRN1_uc011cds.1_Missense_Mutation_p.N96T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	354	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GATGTAAGGAACACTTACTCC	0.333													C	90849051	A	C	90849051	3	2	288	1	0	0	0	0	1	0	0	0	9670	43	2	5	1079	5	MMRN1	4	90849051	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	17700174	90849051	100305225	43	147306											
TTC29	83894	broad.mit.edu	37	chr4	147724808	147724808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgtcaaaagcttgctgAaagcattcagaagctttgtt	10	6	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:147724808A>C	uc003ikw.3	-	11	1358	c.1131T>G	c.(1129-1131)TTT>TTG	p.F377L	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.F403L|TTC29_uc010ipd.1_Missense_Mutation_p.F377L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	377	TPR 5.						binding				0	all_hematologic(180;0.151)					AAGCTTGCTGAAAGCATTCAG	0.353													C	147724808	A	C	147724808	3	2	288	1	0	0	0	0	1	0	0	0	16693	243	9	5	308	5	TTC29	4	147724808	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	56875757	147724808	43429468	44	147307											
TRIML2	205860	broad.mit.edu	37	chr4	189012589	189012589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgagggagtctggacTtgtgtctccatttgggatac	15	6	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:189012589T>G	uc003izl.2	-	7	1138	c.1102A>C	c.(1102-1104)AGT>CGT	p.S368R	TRIML2_uc003izj.1_Missense_Mutation_p.S196R|TRIML2_uc003izk.1_Missense_Mutation_p.S176R|TRIML2_uc011cle.1_Missense_Mutation_p.S443R	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	368	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		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)		GAGTCTGGACTTGTGTCTCCA	0.473													G	189012589	T	G	189012589	3	3	288	1	0	0	0	0	1	0	0	0	16548	1609	56	5	65	5	TRIML2	4	189012589	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	41287781	189012589	2141687	45	147308											
MYO10	4651	broad.mit.edu	37	chr5	16701398	16701398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccaccgtgtcgttcaTgtatgggtcctcctctgaag	12	12	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:16701398T>G	uc003jft.3	-	25	3574	c.3106A>C	c.(3106-3108)ATG>CTG	p.M1036L	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Missense_Mutation_p.M393L|MYO10_uc011cne.1_Missense_Mutation_p.M393L|MYO10_uc010itx.2_Missense_Mutation_p.M659L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1036					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GTGTCGTTCATGTATGGGTCC	0.642													G	16701398	T	G	16701398	3	3	288	1	0	0	0	0	1	0	0	0	10062	1464	51	5	3138	5	MYO10	5	16701398	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08		16701398	164213862	46	147309											
CDH18	1016	broad.mit.edu	37	chr5	19503122	19503122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgtccttcagagtgaAgtttggatttacaggcaggc	11	7	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:19503122A>C	uc003jgc.2	-	10	1986	c.1609T>G	c.(1609-1611)TTC>GTC	p.F537V	CDH18_uc003jgd.2_Missense_Mutation_p.F537V|CDH18_uc011cnm.1_Missense_Mutation_p.F537V	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	537	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCAGAGTGAAGTTTGGATTT	0.343													C	19503122	A	C	19503122	3	2	288	1	0	0	0	0	1	0	0	0	3103	72	3	5	775	5	CDH18	5	19503122	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	2801724	19503122	161412138	47	147310											
ADAMTS12	81792	broad.mit.edu	37	chr5	33891855	33891855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctcctgtccgggaagCgaaccgggcctggctgaggc	15	14	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:33891855C>T	uc003jia.1	-	1	270	c.107G>A	c.(106-108)CGC>CAC	p.R36H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R36H|ADAMTS12_uc003jib.1_Missense_Mutation_p.R36H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	36					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTCCGGGAAGCGAACCGGGCC	0.532										HNSCC(64;0.19)			T	33891855	C	T	33891855	3	4	288	1	0	0	0	0	1	0	0	0	257	768	27	1	4773	1	ADAMTS12	5	33891855	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	14388733	33891855	147023405	48	147311											
SPEF2	79925	broad.mit.edu	37	chr5	35807336	35807336	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacctgatttcaaattAttcagactataagtttcctg	5	8	3	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:35807336A>G	uc003jjo.2	+	36	5471	c.5360A>G	c.(5359-5361)TAT>TGT	p.Y1787C	SPEF2_uc003jjp.1_Missense_Mutation_p.Y1273C|SPEF2_uc003jjr.2_Missense_Mutation_p.Y842C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1787					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTCAAATTATTCAGACTAT	0.403													G	35807336	A	G	35807336	3	3	288	1	0	0	0	0	1	0	0	0	15034	449	16	3	5523	3	SPEF2	5	35807336	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	1915481	35807336	145107924	49	147312											
C5orf42	65250	broad.mit.edu	37	chr5	37198821	37198821	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccttctgcatgacttttcTtgcccacctcaactgcaata	4	14	3	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:37198821T>G	uc011cpa.1	-	20	3886	c.3655A>C	c.(3655-3657)AGA>CGA	p.R1219R	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.R294R|C5orf42_uc011cpb.1_Silent_p.R100R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1219										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGACTTTTCTTGCCCACCTC	0.363													G	37198821	T	G	37198821	2	3	288	1	0	0	0	0	0	0	0	1	2301	1617	56	5		5	C5orf42	5	37198821	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	1391485	37198821	143716439	50	147313											
PCDHB10	56126	broad.mit.edu	37	chr5	140572774	140572774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccctcacagcgctggatGgtgggtctccatccaggtct	11	13	3	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:140572774G>A	uc003lix.2	+	1	823	c.649G>A	c.(649-651)GGT>AGT	p.G217S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	217	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGCTGGATGGTGGGTCTCC	0.547													A	140572774	G	A	140572774	3	1	288	1	0	0	0	0	1	0	0	0	11535	1348	47	4	651	4	PCDHB10	5	140572774	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	103373953	140572774	40342486	51	147314											
IRF4	3662	broad.mit.edu	37	chr6	401485	401485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggagctgaccacgtcCagccccgagggctgccggat	15	13	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:401485C>T	uc003msz.3	+	7	920	c.807C>T	c.(805-807)TCC>TCT	p.S269S	IRF4_uc010jne.1_Silent_p.S269S|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.S268S|IRF4_uc003mtc.1_Silent_p.S99S	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	269					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			ovary(1)	1		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)		TGACCACGTCCAGCCCCGAGG	0.602			T	IGH@	MM 								T	401485	C	T	401485	2	4	288	1	0	0	0	0	0	0	0	1	7832	581	21	4		4	IRF4	6	401485	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08		401485	170713582	52	147315											
NKAPL	222698	broad.mit.edu	37	chr6	28227881	28227882	+	Frame_Shift_Ins	INS	-	-	A													aaaagaagaataagaaaaccINSaaaaaagaatccagtgactc							TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:28227881_28227882insA	uc003nkt.2	+	1	784_785	c.732_733insA	c.(730-735)ACCAAAfs	p.T244fs	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	244_245	Lys-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						ataagaaAACCAAAAAAGAATC	0.292													A	28227882	-	A	28227881	7	5	288	1	0	1	1	0	0	0	0	0	10440	581	21	0	734	0	NKAPL	6	28227881	Frame_Shift_Ins	INS	-	TCGA-IN-8663-01A-11D-2394-08	27826396	28227881	142887186	53	147316	785	2									
NKAPL	222698	broad.mit.edu	37	chr6	28227882	28227883	+	Frame_Shift_Ins	INS	-	-	A													aaagaagaataagaaaaccaINSaaaaagaatccagtgactca							TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:28227881_28227882C>CA	uc003nkt.3	+	0	784_785	c.732_733C>CA	c.(730-735)accaaafs	p.T244fs	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	244	Lys-rich.									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						ataagaaAACCAAAAAAGAATC	0.351													A	28227883	-	A	28227882	7	5	288	1	0	1	1	0	0	0	0	0	10440	131	5	0	735	0	NKAPL	6	28227882	Frame_Shift_Ins	INS	-	TCGA-IN-8663-01A-11D-2394-08	1	28227882	142887185	54	147317	785	2									
KIAA1949	170954	broad.mit.edu	37	chr6	30652350	30652350	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggggtggctggggtcgcAgggggcacagaccgccgggg	23	9	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:30652350A>C	uc003nra.2	-	2	1677	c.1446T>G	c.(1444-1446)CCT>CCG	p.P482P	KIAA1949_uc003nrb.3_Silent_p.P482P	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	482						cytoplasm|cytoskeleton	actin binding				0						CTGGGGTCGCAGGGGGCACAG	0.677													C	30652350	A	C	30652350	2	2	288	1	0	0	0	0	0	0	0	1	8263	175	7	5		5	KIAA1949	6	30652350	Silent	SNP	A	TCGA-IN-8663-01A-11D-2394-08	2424468	30652350	140462717	55	147318											
DNAH8	1769	broad.mit.edu	37	chr6	38834386	38834386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccctggatatgctgggcGccaggaactaccagaaaacc	11	12	0	1	rs139579198		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:38834386G>A	uc003ooe.1	+	44	6467	c.5867G>A	c.(5866-5868)CGC>CAC	p.R1956H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TATGCTGGGCGCCAGGAACTA	0.323													A	38834386	G	A	38834386	3	1	288	1	0	0	0	0	1	0	0	0	4607	1087	38	1	6033	1	DNAH8	6	38834386	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	8182036	38834386	132280681	56	147319											
HTR1E	3354	broad.mit.edu	37	chr6	87725376	87725376	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatgacctgctgcacctgCtccatcctccacctctgtgt	7	17	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:87725376C>A	uc003pli.2	+	2	1027	c.324C>A	c.(322-324)TGC>TGA	p.C108*		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	108	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		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)	GCTGCACCTGCTCCATCCTCC	0.562													A	87725376	C	A	87725376	4	1	288	1	0	0	0	0	0	1	0	0	7439	805	28	5	326	5	HTR1E	6	87725376	Nonsense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	48890990	87725376	83389691	57	147320											
SFRS13B	135295	broad.mit.edu	37	chr6	89816961	89816961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatatcgaccaaactcacGgcgcaagtcctcaggcctga	9	15	2	1	rs138061111	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:89816961G>A	uc003pmy.3	-	2	276	c.82C>T	c.(82-84)CGT>TGT	p.R28C		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	serine-arginine repressor protein	28	RRM.				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding				0						CCAAACTCACGGCGCAAGTCC	0.398													A	89816961	G	A	89816961	3	1	288	1	0	0	0	0	1	0	0	0	14169	1116	39	1	719	1	SFRS13B	6	89816961	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	2091585	89816961	81298106	58	147321											
IGF2R	3482	broad.mit.edu	37	chr6	160485874	160485874	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acttcagattgttcctacttGtttgagtggcgaacgcagta	10	8	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:160485874G>C	uc003qta.2	+	29	4204	c.4056G>C	c.(4054-4056)TTG>TTC	p.L1352F		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1352	9.|Lumenal (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTTCCTACTTGTTTGAGTGGC	0.378													C	160485874	G	C	160485874	3	2	288	1	0	0	0	0	1	0	0	0	7576	1368	48	5	4170	5	IGF2R	6	160485874	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	70668913	160485874	10629193	59	147322											
SDK1	221935	broad.mit.edu	37	chr7	4014046	4014046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgactccatcgagcacGtctaggatcgtggtggagaa	13	11	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:4014046G>A	uc003smx.2	+	13	2002	c.1863G>A	c.(1861-1863)ACG>ACA	p.T621T		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	621	Ig-like C2-type 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		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)		CATCGAGCACGTCTAGGATCG	0.547													A	4014046	G	A	4014046	2	1	288	1	0	0	0	0	0	0	0	1	13968	1132	40	1		1	SDK1	7	4014046	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08		4014046	155124617	60	147323											
ABCA13	154664	broad.mit.edu	37	chr7	48654929	48654929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactggccataatggttaaCggcagcttcaaatgtcttgg	11	8	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:48654929C>T	uc003toq.2	+	59	14818	c.14793C>T	c.(14791-14793)AAC>AAT	p.N4931N	ABCA13_uc010kys.1_Silent_p.N2006N|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.N661N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4931	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TAATGGTTAACGGCAGCTTCA	0.423													T	48654929	C	T	48654929	2	4	288	1	0	0	0	0	0	0	0	1	31	535	19	1		1	ABCA13	7	48654929	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	44640883	48654929	110483734	61	147324											
MAGI2	9863	broad.mit.edu	37	chr7	77885499	77885499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacaatggttaaggtcataAgttcagcttgggtggcccca	11	9	3	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:77885499A>G	uc003ugx.2	-	10	2062	c.1808T>C	c.(1807-1809)CTT>CCT	p.L603P	MAGI2_uc003ugy.2_Missense_Mutation_p.L603P|MAGI2_uc010ldx.1_Missense_Mutation_p.L212P|MAGI2_uc010ldy.1_Missense_Mutation_p.L212P|MAGI2_uc011kgr.1_Missense_Mutation_p.L435P|MAGI2_uc011kgs.1_Missense_Mutation_p.L440P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	603						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAAGGTCATAAGTTCAGCTTG	0.522													G	77885499	A	G	77885499	3	3	288	1	0	0	0	0	1	0	0	0	9191	72	3	3	2611	3	MAGI2	7	77885499	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	29230570	77885499	81253164	62	147325											
PCLO	27445	broad.mit.edu	37	chr7	82582248	82582248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacctcagtcttggaaActtcagtagtgagaaactgt	9	8	3	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:82582248A>G	uc003uhx.2	-	5	8310	c.8021T>C	c.(8020-8022)GTT>GCT	p.V2674A	PCLO_uc003uhv.2_Missense_Mutation_p.V2674A|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2605					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGTCTTGGAAACTTCAGTAGT	0.458													G	82582248	A	G	82582248	3	3	288	1	0	0	0	0	1	0	0	0	11583	43	2	3	7508	3	PCLO	7	82582248	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	4696749	82582248	76556415	63	147326											
PCLO	27445	broad.mit.edu	37	chr7	82584865	82584865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgattttttactagaacTctttctttgttgctgttcta	5	7	3	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:82584865T>C	uc003uhx.2	-	5	5693	c.5404A>G	c.(5404-5406)AGT>GGT	p.S1802G	PCLO_uc003uhv.2_Missense_Mutation_p.S1802G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1733					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTACTAGAACTCTTTCTTTGT	0.373													C	82584865	T	C	82584865	3	2	288	1	0	0	0	0	1	0	0	0	11583	1551	54	3	10125	3	PCLO	7	82584865	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	2617	82584865	76553798	64	147327											
SAMD9L	219285	broad.mit.edu	37	chr7	92760645	92760645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaataaacagatattactGgtatttttattttttcctct	4	6	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:92760645G>T	uc003umh.1	-	5	5856	c.4640C>A	c.(4639-4641)CCA>CAA	p.P1547Q	SAMD9L_uc003umj.1_Missense_Mutation_p.P1547Q|SAMD9L_uc003umi.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.P1547Q|SAMD9L_uc003umk.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.P1547Q|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1547										ovary(4)	4	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)			AGATATTACTGGTATTTTTAT	0.393													T	92760645	G	T	92760645	3	4	288	1	0	0	0	0	1	0	0	0	13827	1348	47	5	118	5	SAMD9L	7	92760645	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	10175780	92760645	66378018	65	147328											
TRRAP	8295	broad.mit.edu	37	chr7	98574180	98574180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggactgccagcccagcgcGctgaactgctttgtggaagc	14	13	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:98574180G>A	uc003upp.2	+	54	8222	c.8013G>A	c.(8011-8013)GCG>GCA	p.A2671A	TRRAP_uc011kis.1_Silent_p.A2653A|TRRAP_uc003upr.2_Silent_p.A2370A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2671					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			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	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)			AGCCCAGCGCGCTGAACTGCT	0.587													A	98574180	G	A	98574180	2	1	288	1	0	0	0	0	0	0	0	1	16598	1074	38	1		1	TRRAP	7	98574180	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	5813535	98574180	60564483	66	147329											
PCOLCE	5118	broad.mit.edu	37	chr7	100204069	100204069	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccgaagggaatgaactcctCgtccagttcgtctcagatct	9	12	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:100204069C>A	uc003uvo.2	+	6	954	c.756C>A	c.(754-756)CTC>CTA	p.L252L	uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	252	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATGAACTCCTCGTCCAGTTCG	0.627													A	100204069	C	A	100204069	2	1	288	1	0	0	0	0	0	0	0	1	11594	871	31	5		5	PCOLCE	7	100204069	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	1629889	100204069	58934594	67	147330											
CUX1	1523	broad.mit.edu	37	chr7	101813812	101813812	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctccagctggcctcacagatCcagaaggcaccagacgtggt	11	14	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:101813812C>G	uc003uyx.3	+	10	848	c.810C>G	c.(808-810)ATC>ATG	p.I270M	CUX1_uc003uys.3_Missense_Mutation_p.I281M|CUX1_uc003uyt.2_Missense_Mutation_p.I281M|CUX1_uc011kkn.1_Missense_Mutation_p.I244M|CUX1_uc003uyw.2_Missense_Mutation_p.I235M|CUX1_uc003uyv.2_Missense_Mutation_p.I265M|CUX1_uc003uyu.2_Missense_Mutation_p.I281M	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	270	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CCTCACAGATCCAGAAGGCAC	0.607													G	101813812	C	G	101813812	3	3	288	1	0	0	0	0	1	0	0	0	4064	845	30	5	915	5	CUX1	7	101813812	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	1609743	101813812	57324851	68	147331											
SLC26A4	5172	broad.mit.edu	37	chr7	107341590	107341590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataataagaggctgaaagcGctgaggaaaatacagaaact	10	5	0	4			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:107341590G>A	uc003vep.2	+	16	1976	c.1752G>A	c.(1750-1752)GCG>GCA	p.A584A	SLC26A4_uc011kmb.1_Silent_p.A171A|SLC26A4_uc011kmc.1_Silent_p.A145A|SLC26A4_uc011kmd.1_Silent_p.A153A	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	584	STAS.|Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(2)|skin(2)	7						GGCTGAAAGCGCTGAGGAAAA	0.343									Pendred_syndrome				A	107341590	G	A	107341590	2	1	288	1	0	0	0	0	0	0	0	1	14519	1074	38	1		1	SLC26A4	7	107341590	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	5527778	107341590	51797073	69	147332											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519745	113519745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcctccttcatgtttttTattaaggtttcctgccatta	5	10	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:113519745T>C	uc010ljy.1	-	4	1433	c.1402A>G	c.(1402-1404)AAA>GAA	p.K468E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	468					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TCATGTTTTTTATTAAGGTTT	0.398													C	113519745	T	C	113519745	3	2	288	1	0	0	0	0	1	0	0	0	12371	1763	61	3	1970	3	PPP1R3A	7	113519745	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	6178155	113519745	45618918	70	147333											
KCND2	3751	broad.mit.edu	37	chr7	119915642	119915642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggtacacactgaagaGttgtgcctcagaattgggct	13	9	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:119915642G>A	uc003vjj.1	+	1	1921	c.956G>A	c.(955-957)AGT>AAT	p.S319N		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	319	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					ACACTGAAGAGTTGTGCCTCA	0.522													A	119915642	G	A	119915642	3	1	288	1	0	0	0	0	1	0	0	0	8019	1029	36	4	958	4	KCND2	7	119915642	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	6395897	119915642	39223021	71	147334											
WRN	7486	broad.mit.edu	37	chr8	30938648	30938648	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttggaaataaagtggaaCgaaaagaagatggatttgaa	11	2	0	3	rs17847577		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:30938648C>T	uc003xio.3	+	9	1893	c.1105C>T	c.(1105-1107)CGA>TGA	p.R369*	WRN_uc011lbd.1_Nonsense_Mutation_p.R72*|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	369					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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TAAAGTGGAACGAAAAGAAGA	0.343			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				T	30938648	C	T	30938648	4	4	288	1	0	0	0	0	0	1	0	0	17399	528	19	1	1135	1	WRN	8	30938648	Nonsense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08		30938648	115425374	72	147335											
NRG1	3084	broad.mit.edu	37	chr8	31498085	31498085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccccgccttcccctcCtgcgggaggctcaaggagga	13	17	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:31498085C>T	uc003xip.2	+	1	818	c.585C>T	c.(583-585)TCC>TCT	p.S195S		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					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|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|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTTCCCCTCCTGCGGGAGGC	0.682													T	31498085	C	T	31498085	2	4	288	1	0	0	0	0	0	0	0	1	10647	668	24	4		4	NRG1	8	31498085	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	559437	31498085	114865937	73	147336											
VCPIP1	80124	broad.mit.edu	37	chr8	67577705	67577705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctgtccatgagtacTttttgccaggttatacaatt	7	10	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:67577705T>C	uc003xwn.2	-	1	1748	c.1489A>G	c.(1489-1491)AGT>GGT	p.S497G	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	497					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		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)			CCATGAGTACTTTTTGCCAGG	0.428													C	67577705	T	C	67577705	3	2	288	1	0	0	0	0	1	0	0	0	17138	1609	56	3	2191	3	VCPIP1	8	67577705	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	36079620	67577705	78786317	74	147337											
PRDM14	63978	broad.mit.edu	37	chr8	70981763	70981763	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctcaggaagggcggCacttccctggggacgtgggg	18	11	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:70981763C>A	uc003xym.2	-	2	535	c.333G>T	c.(331-333)GTG>GTT	p.V111V		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGAAGGGCGGCACTTCCCTGG	0.627													A	70981763	C	A	70981763	2	1	288	1	0	0	0	0	0	0	0	1	12455	697	25	5		5	PRDM14	8	70981763	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	3404058	70981763	75382259	75	147338											
KCNB2	9312	broad.mit.edu	37	chr8	73480224	73480224	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactataatctgaacgagaaCgagtatttctttgatcggca	9	7	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:73480224C>G	uc003xzb.2	+	2	843	c.255C>G	c.(253-255)AAC>AAG	p.N85K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	85	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGAACGAGAACGAGTATTTCT	0.512													G	73480224	C	G	73480224	3	3	288	1	0	0	0	0	1	0	0	0	8013	535	19	5	257	5	KCNB2	8	73480224	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	2498461	73480224	72883798	76	147339											
CNBD1	168975	broad.mit.edu	37	chr8	88296940	88296940	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttgggactctggaagTtatgcctcagaatgaatcgg	11	8	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:88296940T>G	uc003ydy.2	+	7	854	c.806T>G	c.(805-807)GTT>GGT	p.V269G		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	269										ovary(3)	3						ACTCTGGAAGTTATGCCTCAG	0.388													G	88296940	T	G	88296940	3	3	288	1	0	0	0	0	1	0	0	0	3591	1725	60	5	832	5	CNBD1	8	88296940	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	14816716	88296940	58067082	77	147340											
DPYS	1807	broad.mit.edu	37	chr8	105436539	105436539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagctattcttccttttcTtggatagagattaaaaattt	5	6	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:105436539T>C	uc003yly.3	-	7	1300	c.1171A>G	c.(1171-1173)AGA>GGA	p.R391G		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	391					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTTTTCTTGGATAGAGA	0.373													C	105436539	T	C	105436539	3	2	288	1	0	0	0	0	1	0	0	0	4746	1617	56	3	400	3	DPYS	8	105436539	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	17139599	105436539	40927483	78	147341											
ZFPM2	23414	broad.mit.edu	37	chr8	106813482	106813482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtccctagcggcaaacTtcccagagaaagtgacatgg	10	12	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:106813482T>G	uc003ymd.2	+	8	1195	c.1172T>G	c.(1171-1173)CTT>CGT	p.L391R	ZFPM2_uc011lhs.1_Missense_Mutation_p.L122R|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	391					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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCGGCAAACTTCCCAGAGAA	0.517													G	106813482	T	G	106813482	3	3	288	1	0	0	0	0	1	0	0	0	17655	1609	56	5	1202	5	ZFPM2	8	106813482	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	1376943	106813482	39550540	79	147342											
SYBU	55638	broad.mit.edu	37	chr8	110592127	110592127	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatattgacagggctcagcTgattcctgcacagcatggac	12	10	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:110592127T>G	uc003ynj.3	-	5	798	c.635A>C	c.(634-636)CAG>CCG	p.Q212P	SYBU_uc003yni.3_Missense_Mutation_p.Q209P|SYBU_uc003ynk.3_Missense_Mutation_p.Q93P|SYBU_uc010mco.2_Missense_Mutation_p.Q211P|SYBU_uc003ynl.3_Missense_Mutation_p.Q211P|SYBU_uc010mcp.2_Missense_Mutation_p.Q212P|SYBU_uc010mcq.2_Missense_Mutation_p.Q212P|SYBU_uc003yno.3_Missense_Mutation_p.Q93P|SYBU_uc010mcr.2_Missense_Mutation_p.Q212P|SYBU_uc003ynm.3_Missense_Mutation_p.Q211P|SYBU_uc003ynn.3_Missense_Mutation_p.Q211P|SYBU_uc010mcs.2_Missense_Mutation_p.Q93P|SYBU_uc010mct.2_Missense_Mutation_p.Q212P|SYBU_uc010mcu.2_Missense_Mutation_p.Q211P|SYBU_uc003ynp.3_Missense_Mutation_p.Q144P|SYBU_uc010mcv.2_Missense_Mutation_p.Q212P|SYBU_uc003ynh.3_Missense_Mutation_p.Q6P|SYBU_uc011lhw.1_Missense_Mutation_p.Q82P	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	212	Sufficient for interaction with KIF5B.|Ser-rich.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						AGGGCTCAGCTGATTCCTGCA	0.557													G	110592127	T	G	110592127	3	3	288	1	0	0	0	0	1	0	0	0	15424	1580	55	5	1368	5	SYBU	8	110592127	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	3778645	110592127	35771895	80	147343											
CSMD3	114788	broad.mit.edu	37	chr8	113933891	113933891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcactccaagcagcaAaaacttcagctatccgttga	7	11	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:113933891A>C	uc003ynu.2	-	10	1757	c.1598T>G	c.(1597-1599)TTT>TGT	p.F533C	CSMD3_uc003ynt.2_Missense_Mutation_p.F493C|CSMD3_uc011lhx.1_Missense_Mutation_p.F429C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	533	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCAAGCAGCAAAAACTTCAGC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113933891	A	C	113933891	3	2	288	1	0	0	0	0	1	0	0	0	3946	14	1	5	9773	5	CSMD3	8	113933891	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	3341764	113933891	32430131	81	147344											
TRPS1	7227	broad.mit.edu	37	chr8	116426893	116426893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtctcatgtacttttcTataggactgcctctctcaga	8	11	4	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:116426893T>C	uc003ynz.2	-	6	3663	c.3204A>G	c.(3202-3204)ATA>ATG	p.I1068M	TRPS1_uc011lhy.1_Missense_Mutation_p.I1072M|TRPS1_uc003yny.2_Missense_Mutation_p.I1081M|TRPS1_uc010mcy.2_Missense_Mutation_p.I1068M	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1068	Mediates interaction with RNF4 (By similarity).				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			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	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)			TGTACTTTTCTATAGGACTGC	0.428									Langer-Giedion_syndrome				C	116426893	T	C	116426893	3	2	288	1	0	0	0	0	1	0	0	0	16590	1512	53	3	645	3	TRPS1	8	116426893	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	2493002	116426893	29937129	82	147345											
PTPRD	5789	broad.mit.edu	37	chr9	8389280	8389280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacaactgtggcactccgTtgttcccatatcattctcca	6	13	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:8389280T>C	uc003zkk.2	-	36	5049	c.4338A>G	c.(4336-4338)CAA>CAG	p.Q1446Q	PTPRD_uc003zkp.2_Silent_p.Q1040Q|PTPRD_uc003zkq.2_Silent_p.Q1039Q|PTPRD_uc003zkr.2_Silent_p.Q1030Q|PTPRD_uc003zks.2_Silent_p.Q1039Q|PTPRD_uc003zkl.2_Silent_p.Q1437Q|PTPRD_uc003zkm.2_Silent_p.Q1433Q|PTPRD_uc003zkn.2_Silent_p.Q1035Q|PTPRD_uc003zko.2_Silent_p.Q1036Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1446	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		TGGCACTCCGTTGTTCCCATA	0.413										TSP Lung(15;0.13)			C	8389280	T	C	8389280	2	2	288	1	0	0	0	0	0	0	0	1	12799	1722	60	3		3	PTPRD	9	8389280	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08		8389280	132824151	83	147346											
CDKN2A	1029	broad.mit.edu	37	chr9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacatcgcgatggcccagctCctcagccaggtccacgggca	12	16	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:21971000C>A	uc003zpk.2	-	2	570	c.358G>T	c.(358-360)GAG>TAG	p.E120*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	120	ANK 4.		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		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 binding|protein kinase binding	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		TGGCCCAGCTCCTCAGCCAGG	0.726		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			A	21971000	C	A	21971000	4	1	288	1	0	0	0	0	0	1	0	0	3161	864	30	5	120	5	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	13581720	21971000	119242431	84	147347											
TMEM215	401498	broad.mit.edu	37	chr9	32784496	32784496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacctagaatccggcaaGgggagctcagatgagctggc	14	10	2	4			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:32784496G>A	uc003zri.3	+	2	680	c.315G>A	c.(313-315)AAG>AAA	p.K105K		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	105						integral to membrane					0						AATCCGGCAAGGGGAGCTCAG	0.612													A	32784496	G	A	32784496	2	1	288	1	0	0	0	0	0	0	0	1	16135	991	35	4		4	TMEM215	9	32784496	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	10813496	32784496	108428935	85	147348											
FBP1	2203	broad.mit.edu	37	chr9	97369109	97369109	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacttactggggggaacttCttcctctggatgtactcagt	10	10	4	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:97369109C>T	uc004auw.3	-	5	1024	c.693G>A	c.(691-693)AAG>AAA	p.K231K	FBP1_uc010mrl.2_Silent_p.K231K	NM_000507	NP_000498	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	231					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	GGGGGAACTTCTTCCTCTGGA	0.562													T	97369109	C	T	97369109	2	4	288	1	0	0	0	0	0	0	0	1	5705	912	32	4		4	FBP1	9	97369109	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	64584613	97369109	43844322	86	147349											
MUSK	4593	broad.mit.edu	37	chr9	113550077	113550077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagagggaggcagcccTcatggcagaatttgacaacc	11	11	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:113550077T>C	uc004bey.2	+	13	1984	c.1886T>C	c.(1885-1887)CTC>CCC	p.L629P	MUSK_uc004bez.1_Missense_Mutation_p.L209P	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	629	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GAGGCAGCCCTCATGGCAGAA	0.428													C	113550077	T	C	113550077	3	2	288	1	0	0	0	0	1	0	0	0	9989	1551	54	3	1972	3	MUSK	9	113550077	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	16180968	113550077	27663354	87	147350											
SPTAN1	6709	broad.mit.edu	37	chr9	131329241	131329241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgagaattataaagaCccaaccaacttgcaggtacg	8	9	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:131329241C>G	uc004bvl.3	+	2	335	c.222C>G	c.(220-222)GAC>GAG	p.D74E	SPTAN1_uc011mbg.1_Missense_Mutation_p.D74E|SPTAN1_uc011mbh.1_Missense_Mutation_p.D86E|SPTAN1_uc004bvm.3_Missense_Mutation_p.D74E|SPTAN1_uc004bvn.3_Missense_Mutation_p.D74E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	74	Spectrin 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			breast(5)|ovary(4)|pancreas(1)	10						ATTATAAAGACCCAACCAACT	0.398													G	131329241	C	G	131329241	3	3	288	1	0	0	0	0	1	0	0	0	15116	506	18	5	224	5	SPTAN1	9	131329241	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	17779164	131329241	9884190	88	147351											
ABL1	25	broad.mit.edu	37	chr9	133738348	133738348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaagcacaagctgggcGggggccagtacggggaggtg	19	9	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:133738348G>A	uc004bzw.2	+	4	751	c.748G>A	c.(748-750)GGG>AGG	p.G250R	ABL1_uc004bzv.2_Missense_Mutation_p.G269R|uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	250	Protein kinase.|ATP.				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	p.G250E(72)		haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		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)	CAAGCTGGGCGGGGGCCAGTA	0.612			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								A	133738348	G	A	133738348	3	1	288	1	0	0	0	0	1	0	0	0	92	1116	39	1	902	1	ABL1	9	133738348	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	2409107	133738348	7475083	89	147352											
DBH	1621	broad.mit.edu	37	chr9	136501612	136501612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggccgcactgcagggctCggctccccgtgagagccccc	15	17	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:136501612C>T	uc004cel.2	+	1	128	c.119C>T	c.(118-120)TCG>TTG	p.S40L		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	40	Intragranular (Potential).				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			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTGCAGGGCTCGGCTCCCCGT	0.662													T	136501612	C	T	136501612	3	4	288	1	0	0	0	0	1	0	0	0	4250	893	31	1	121	1	DBH	9	136501612	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	2763264	136501612	4711819	90	147353											
CUBN	8029	broad.mit.edu	37	chr10	16957886	16957886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagaattctgaaggttaaAgtcttcaaaagagatggtga	11	3	3	5			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:16957886A>G	uc001ioo.2	-	46	7196	c.7144T>C	c.(7144-7146)TTT>CTT	p.F2382L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2382	CUB 17.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGGTTAAAGTCTTCAAAA	0.423													G	16957886	A	G	16957886	3	3	288	1	0	0	0	0	1	0	0	0	4051	72	3	3	3815	3	CUBN	10	16957886	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08		16957886	118576861	91	147354											
CUBN	8029	broad.mit.edu	37	chr10	17165610	17165611	+	Frame_Shift_Ins	INS	-	-	A													cactgtgggggacagatacaINSaaaaaaggaatcatgcagat							TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:17165609_17165610C>CA	uc001ioo.3	-	4	518_519	c.466_467G>TG	c.(466-468)tgtfs	p.C156fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	156	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)	GGGACAGATACAAAAAAAGGAA	0.436													A	17165611	-	A	17165610	7	5	288	1	0	1	1	0	0	0	0	0	4051	130	5	0	10657	0	CUBN	10	17165610	Frame_Shift_Ins	INS	-	TCGA-IN-8663-01A-11D-2394-08	207724	17165610	118369137	92	147355											
GPR158	57512	broad.mit.edu	37	chr10	25861698	25861698	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtttctcattggctggacTtcatctgtgtgccagaattt	10	8	3	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:25861698T>G	uc001isj.2	+	7	1695	c.1635T>G	c.(1633-1635)ACT>ACG	p.T545T		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	545	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTGGCTGGACTTCATCTGTGT	0.473													G	25861698	T	G	25861698	2	3	288	1	0	0	0	0	0	0	0	1	6663	1596	56	5		5	GPR158	10	25861698	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	8696088	25861698	109673049	93	147356											
MASTL	84930	broad.mit.edu	37	chr10	27459533	27459533	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaatagtaagagggactacTtaagttctagttttctatgt	9	4	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:27459533T>A	uc001itm.2	+	8	2284	c.1645T>A	c.(1645-1647)TTA>ATA	p.L549I	MASTL_uc001itl.2_Missense_Mutation_p.L549I|MASTL_uc009xkw.1_Missense_Mutation_p.L549I|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	549	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						GAGGGACTACTTAAGTTCTAG	0.318													A	27459533	T	A	27459533	3	1	288	1	0	0	0	0	1	0	0	0	9328	1606	56	5	1675	5	MASTL	10	27459533	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	1597835	27459533	108075214	94	147357											
KIAA1462	57608	broad.mit.edu	37	chr10	30316027	30316027	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaacttccgagggaccGcttcacttggtttcacagag	10	11	3	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:30316027G>C	uc001iux.2	-	2	3109	c.3050C>G	c.(3049-3051)GCG>GGG	p.A1017G	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A879G|KIAA1462_uc009xle.1_Missense_Mutation_p.A1017G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1017										ovary(4)	4						CCGAGGGACCGCTTCACTTGG	0.572													C	30316027	G	C	30316027	3	2	288	1	0	0	0	0	1	0	0	0	8234	1087	38	5	1037	5	KIAA1462	10	30316027	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	2856494	30316027	105218720	95	147358											
ZNF25	219749	broad.mit.edu	37	chr10	38241394	38241394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttttcccacatttattAcattcaaagggtttctcccc	4	11	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:38241394A>G	uc001ize.1	-	6	1137	c.1032T>C	c.(1030-1032)TGT>TGC	p.C344C	ZNF25_uc001izf.1_Silent_p.C308C	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	344	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CACATTTATTACATTCAAAGG	0.408													G	38241394	A	G	38241394	2	3	288	1	0	0	0	0	0	0	0	1	17791	389	14	3		3	ZNF25	10	38241394	Silent	SNP	A	TCGA-IN-8663-01A-11D-2394-08	7925367	38241394	97293353	96	147359											
ZNF33A	7581	broad.mit.edu	37	chr10	38345147	38345147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgaatgcaatgaatgtGggaaattcttcaggcacaaa	9	7	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:38345147G>A	uc001izh.2	+	5	2270	c.2092G>A	c.(2092-2094)GGG>AGG	p.G698R	ZNF33A_uc001izg.2_Missense_Mutation_p.G699R|ZNF33A_uc010qev.1_Missense_Mutation_p.G705R|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	698	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CAATGAATGTGGGAAATTCTT	0.383													A	38345147	G	A	38345147	3	1	288	1	0	0	0	0	1	0	0	0	17851	1348	47	4	2109	4	ZNF33A	10	38345147	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	103753	38345147	97189600	97	147360											
STOX1	219736	broad.mit.edu	37	chr10	70644497	70644497	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagaagtttggttttagtctCttatggcgcagcttatctag	10	6	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:70644497C>G	uc001jos.2	+	3	1032	c.945C>G	c.(943-945)CTC>CTG	p.L315L	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.L205L	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	315						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						GTTTTAGTCTCTTATGGCGCA	0.463													G	70644497	C	G	70644497	2	3	288	1	0	0	0	0	0	0	0	1	15318	900	32	5		5	STOX1	10	70644497	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	32299350	70644497	64890250	98	147361											
AIFM2	84883	broad.mit.edu	37	chr10	71876494	71876494	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtactctcgatactcaTtgagaggcagctcctccaga	9	11	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:71876494T>C	uc010qjg.1	-	6	666	c.653A>G	c.(652-654)AAT>AGT	p.N218S	AIFM2_uc001jqp.1_Missense_Mutation_p.N218S	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	218					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						TCGATACTCATTGAGAGGCAG	0.582											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	71876494	T	C	71876494	3	2	288	1	0	0	0	0	1	0	0	0	427	1493	52	3	480	3	AIFM2	10	71876494	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	1231997	71876494	63658253	99	147362											
KCNMA1	3778	broad.mit.edu	37	chr10	78674744	78674744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgtgatggatggttgaCgtaacatcccgtgcactggg	14	8	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:78674744C>T	uc001jxn.2	-	24	3143	c.2966G>A	c.(2965-2967)CGT>CAT	p.R989H	KCNMA1_uc001jxj.2_Missense_Mutation_p.R935H|KCNMA1_uc001jxk.1_Missense_Mutation_p.R607H|KCNMA1_uc009xrt.1_Missense_Mutation_p.R780H|KCNMA1_uc001jxl.1_Missense_Mutation_p.R614H|KCNMA1_uc001jxo.2_Missense_Mutation_p.R972H|KCNMA1_uc001jxm.2_Missense_Mutation_p.R931H|KCNMA1_uc001jxq.2_Missense_Mutation_p.R934H	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	989	Cytoplasmic (Potential).				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			pancreas(2)|ovary(1)	3	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)	GGATGGTTGACGTAACATCCC	0.483													T	78674744	C	T	78674744	3	4	288	1	0	0	0	0	1	0	0	0	8073	536	19	1	793	1	KCNMA1	10	78674744	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	6798250	78674744	56860003	100	147363											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052014	81052014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagccgctgcagcagcGgcagtggcagcagcagcagc	17	14	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:81052014G>A	uc001kaf.2	+	11	1430	c.858G>A	c.(856-858)GCG>GCA	p.A286A	ZMIZ1_uc001kag.2_Silent_p.A162A|ZMIZ1_uc001kah.1_Silent_p.A162A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	286	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	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)			ctgcagcagcggcagtggcag	0.502													A	81052014	G	A	81052014	2	1	288	1	0	0	0	0	0	0	0	1	17693	1103	39	1		1	ZMIZ1	10	81052014	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	2377270	81052014	54482733	101	147364											
CDHR1	92211	broad.mit.edu	37	chr10	85974024	85974024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcgggtgctccgcaagCggcccagccctgcgccccgc	15	19	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:85974024C>T	uc001kcv.2	+	17	2227	c.2227C>T	c.(2227-2229)CGG>TGG	p.R743W	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R447W|CDHR1_uc001kcx.2_Missense_Mutation_p.R57W	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	743	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GCTCCGCAAGCGGCCCAGCCC	0.602													T	85974024	C	T	85974024	3	4	288	1	0	0	0	0	1	0	0	0	3118	759	27	1	2293	1	CDHR1	10	85974024	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	4922010	85974024	49560723	102	147365											
ATRNL1	26033	broad.mit.edu	37	chr10	117026352	117026352	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcctccaaattgcaaggcTttcagagatgaagaactttg	9	8	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:117026352T>C	uc001lcg.2	+	12	2237	c.1851T>C	c.(1849-1851)GCT>GCC	p.A617A		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	617	PSI 1.|Kelch 6.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		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)		ATTGCAAGGCTTTCAGAGATG	0.333													C	117026352	T	C	117026352	2	2	288	1	0	0	0	0	0	0	0	1	1207	1596	56	3		3	ATRNL1	10	117026352	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	31052328	117026352	18508395	103	147366											
MUC6	4588	broad.mit.edu	37	chr11	1017663	1017663	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggttgggggtgatgTtggtggtagaagttgaggtg	23	0	0	3	rs72022620		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:1017663T>A	uc001lsw.2	-	31	5189	c.5138A>T	c.(5137-5139)AAC>ATC	p.N1713I		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1713	Thr-rich.|1; truncated.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GGGGGTGATGTTGGTGGTAGA	0.527													A	1017663	T	A	1017663	3	1	288	1	0	0	0	0	1	0	0	0	9980	1725	60	5	2193	5	MUC6	11	1017663	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08		1017663	133988853	104	147367											
OR52I2	143502	broad.mit.edu	37	chr11	4608534	4608534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagcctctacactacaagagAattctcacgcctcaagtgat	6	12	3	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:4608534A>T	uc010qyh.1	+	1	492	c.492A>T	c.(490-492)AGA>AGT	p.R164S		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	164	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		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)		ACTACAAGAGAATTCTCACGC	0.493													T	4608534	A	T	4608534	3	4	288	1	0	0	0	0	1	0	0	0	11121	243	9	5	494	5	OR52I2	11	4608534	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	3590871	4608534	130397982	105	147368											
LMO2	4005	broad.mit.edu	37	chr11	33886163	33886163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtacctgagatagtctctcCggcagagcttccggcccagt	12	13	1	2	rs111991485		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:33886163C>T	uc001mve.2	-	2	681	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	LMO2_uc001mvc.2_Missense_Mutation_p.R74Q|LMO2_uc001mvd.2_Missense_Mutation_p.R74Q|LMO2_uc010rel.1_Missense_Mutation_p.R81Q|LMO2_uc010rem.1_Missense_Mutation_p.R150Q	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	81	LIM zinc-binding 1.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						ATAGTCTCTCCGGCAGAGCTT	0.647			T	TRD@	T-ALL								T	33886163	C	T	33886163	3	4	288	1	0	0	0	0	1	0	0	0	8852	652	23	1	242	1	LMO2	11	33886163	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	29277629	33886163	101120353	106	147369											
ACCSL	390110	broad.mit.edu	37	chr11	44074565	44074565	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgttacaaacacccatcctTtccagctcactgtggacaag	6	14	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:44074565T>A	uc001mxw.1	+	7	951	c.895T>A	c.(895-897)TTC>ATC	p.F299I	ACCSL_uc009ykr.2_Missense_Mutation_p.F118I	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	299							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						CACCCATCCTTTCCAGCTCAC	0.453													A	44074565	T	A	44074565	3	1	288	1	0	0	0	0	1	0	0	0	134	1841	64	5	921	5	ACCSL	11	44074565	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	10188402	44074565	90931951	107	147370											
OR5D13	390142	broad.mit.edu	37	chr11	55541187	55541187	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaacttggttgtggaatacAgaaccatctctttctctggt	9	8	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:55541187A>T	uc010ril.1	+	1	274	c.274A>T	c.(274-276)AGA>TGA	p.R92*		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TGTGGAATACAGAACCATCTC	0.393													T	55541187	A	T	55541187	4	4	288	1	0	0	0	0	0	1	0	0	11154	180	7	5	276	5	OR5D13	11	55541187	Nonsense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	11466622	55541187	79465329	108	147371											
OR5T3	390154	broad.mit.edu	37	chr11	56019837	56019837	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagatgattttgagctgcaAgtcttcctatttttactatt	6	7	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:56019837A>G	uc010rjd.1	+	1	162	c.162A>G	c.(160-162)CAA>CAG	p.Q54Q		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	54	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTGAGCTGCAAGTCTTCCTAT	0.393													G	56019837	A	G	56019837	2	3	288	1	0	0	0	0	0	0	0	1	11183	69	3	3		3	OR5T3	11	56019837	Silent	SNP	A	TCGA-IN-8663-01A-11D-2394-08	478650	56019837	78986679	109	147372											
GPR137	56834	broad.mit.edu	37	chr11	64055814	64055814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgccttcccacaggcGgacctggtgaatgacctggg	13	15	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:64055814G>A	uc001nzg.1	+	6	1094	c.786G>A	c.(784-786)GCG>GCA	p.A262A	GPR137_uc010rni.1_Silent_p.A320A|GPR137_uc001nzf.2_Silent_p.A212A|GPR137_uc001nzi.2_Silent_p.A262A|GPR137_uc010rnj.1_Silent_p.A262A|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	262	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						TCCCACAGGCGGACCTGGTGA	0.627													A	64055814	G	A	64055814	2	1	288	1	0	0	0	0	0	0	0	1	6645	1103	39	1		1	GPR137	11	64055814	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	8035977	64055814	70950702	110	147373											
FOLH1B	219595	broad.mit.edu	37	chr11	89431691	89431691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggacccttccaaggcctgggGagatgtgaagagacagattt	14	8	0	4			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:89431691G>T	uc001pda.2	+	14	1779	c.1253G>T	c.(1252-1254)GGA>GTA	p.G418V		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	418					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						AAGGCCTGGGGAGATGTGAAG	0.473													T	89431691	G	T	89431691	3	4	288	1	0	0	0	0	1	0	0	0	5980	1174	41	5	1299	5	FOLH1B	11	89431691	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	25375877	89431691	45574825	111	147374											
GLB1L2	89944	broad.mit.edu	37	chr11	134214955	134214955	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcctgatggccgcagagatCgggctgtgggtgattctgcg	17	9	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:134214955C>T	uc001qhp.2	+	4	569	c.381C>T	c.(379-381)ATC>ATT	p.I127I	GLB1L2_uc009zdg.1_5'Flank	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	127					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGCAGAGATCGGGCTGTGGG	0.662													T	134214955	C	T	134214955	2	4	288	1	0	0	0	0	0	0	0	1	6429	874	31	1		1	GLB1L2	11	134214955	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	44783264	134214955	791561	112	147375											
FGF6	2251	broad.mit.edu	37	chr12	4543436	4543436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggggacaccttgctgcccCgctttacccgtccgtatttg	10	15	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:4543436C>T	uc001qmr.1	-	3	616	c.572G>A	c.(571-573)CGG>CAG	p.R191Q		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	191					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTTGCTGCCCCGCTTTACCCG	0.493													T	4543436	C	T	4543436	3	4	288	1	0	0	0	0	1	0	0	0	5856	652	23	1	58	1	FGF6	12	4543436	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08		4543436	129308459	113	147376											
KCNA5	3741	broad.mit.edu	37	chr12	5154932	5154932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccttaaggaagagcaggGcactcagagccaggggccgg	16	10	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:5154932G>A	uc001qni.2	+	1	1848	c.1619G>A	c.(1618-1620)GGC>GAC	p.G540D		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	540						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GAAGAGCAGGGCACTCAGAGC	0.622													A	5154932	G	A	5154932	3	1	288	1	0	0	0	0	1	0	0	0	8006	1203	42	2	1621	2	KCNA5	12	5154932	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	611496	5154932	128696963	114	147377											
BCAT1	586	broad.mit.edu	37	chr12	25002867	25002867	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggctttggtaggcttcTtgactccaagagaaggctgc	14	9	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:25002867T>G	uc001rgd.3	-	6	969	c.527A>C	c.(526-528)AAG>ACG	p.K176T	BCAT1_uc001rgc.2_Missense_Mutation_p.K175T|BCAT1_uc010six.1_Missense_Mutation_p.K188T|BCAT1_uc010siy.1_Missense_Mutation_p.K139T|BCAT1_uc001rge.3_Missense_Mutation_p.K115T	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	176					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGTAGGCTTCTTGACTCCAAG	0.428													G	25002867	T	G	25002867	3	3	288	1	0	0	0	0	1	0	0	0	1354	1609	56	5	657	5	BCAT1	12	25002867	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	19847935	25002867	108849028	115	147378											
LRRK2	120892	broad.mit.edu	37	chr12	40697927	40697927	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatctttctcacaataaActgaaagaggtaagacgatt	7	8	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:40697927A>C	uc001rmg.3	+	27	3889	c.3768A>C	c.(3766-3768)AAA>AAC	p.K1256N	LRRK2_uc001rmh.1_Missense_Mutation_p.K878N|LRRK2_uc009zjw.2_Missense_Mutation_p.K94N|LRRK2_uc001rmi.2_Missense_Mutation_p.K89N	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1256	LRR 11.				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			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCACAATAAACTGAAAGAGG	0.308													C	40697927	A	C	40697927	3	2	288	1	0	0	0	0	1	0	0	0	9033	40	2	5	3874	5	LRRK2	12	40697927	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	15695060	40697927	93153968	116	147379											
MLL2	8085	broad.mit.edu	37	chr12	49416540	49416540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttccattcggtgcgcaGccgccggtactgagatgact	12	12	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:49416540G>A	uc001rta.3	-	51	16171	c.16171C>T	c.(16171-16173)CTG>TTG	p.L5391L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5391					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCGGTGCGCAGCCGCCGGTAC	0.552			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			A	49416540	G	A	49416540	2	1	288	1	0	0	0	0	0	0	0	1	9621	962	34	2		2	MLL2	12	49416540	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	8718613	49416540	84435355	117	147380											
C1QL4	338761	broad.mit.edu	37	chr12	49729959	49729959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtagccggcagcgggcGccaccccgcccggacctgga	15	18	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:49729959G>A	uc001rtz.1	-	1	1013	c.302C>T	c.(301-303)GCG>GTG	p.A101V		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	101						collagen					0						GGCAGCGGGCGCCACCCCGCC	0.746													A	49729959	G	A	49729959	3	1	288	1	0	0	0	0	1	0	0	0	1961	1087	38	1	422	1	C1QL4	12	49729959	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	313419	49729959	84121936	118	147381											
NAV3	89795	broad.mit.edu	37	chr12	78443852	78443852	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttagaagagactatgtcCagtcttcgtgggactcagat	10	7	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:78443852C>A	uc001syp.2	+	10	2276	c.2103C>A	c.(2101-2103)TCC>TCA	p.S701S	NAV3_uc001syo.2_Silent_p.S701S|NAV3_uc010sub.1_Silent_p.S201S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	701	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AGACTATGTCCAGTCTTCGTG	0.328										HNSCC(70;0.22)			A	78443852	C	A	78443852	2	1	288	1	0	0	0	0	0	0	0	1	10185	581	21	5		5	NAV3	12	78443852	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	28713893	78443852	55408043	119	147382											
MGAT4C	25834	broad.mit.edu	37	chr12	86373864	86373864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatagtctgaagtattggCacaaaaattaagcagaaaag	8	4	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:86373864C>A	uc001tai.3	-	8	1890	c.640G>T	c.(640-642)GCC>TCC	p.A214S	MGAT4C_uc001tal.3_Missense_Mutation_p.A214S|MGAT4C_uc001taj.3_Missense_Mutation_p.A214S|MGAT4C_uc001tak.3_Missense_Mutation_p.A214S|MGAT4C_uc010sum.1_Missense_Mutation_p.A238S|MGAT4C_uc001tah.3_Missense_Mutation_p.A214S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	214	Lumenal (Potential).				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			ovary(3)	3						GAAGTATTGGCACAAAAATTA	0.333													A	86373864	C	A	86373864	3	1	288	1	0	0	0	0	1	0	0	0	9547	710	25	5	800	5	MGAT4C	12	86373864	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	7930012	86373864	47478031	120	147383											
KSR2	283455	broad.mit.edu	37	chr12	118105417	118105417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttctcgcagctgcctaCgctgctgtggatcttgaggt	13	10	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:118105417C>T	uc001two.2	-	5	1001	c.946G>A	c.(946-948)GTA>ATA	p.V316I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	345					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGCCTACGCTGCTGTGG	0.542													T	118105417	C	T	118105417	3	4	288	1	0	0	0	0	1	0	0	0	8582	536	19	1	1883	1	KSR2	12	118105417	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	31731553	118105417	15746478	121	147384											
EP400	57634	broad.mit.edu	37	chr12	132546656	132546656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttgccttttctagaCgccgggaggctctgctcccg	11	14	3	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:132546656C>T	uc001ujn.2	+	45	7921	c.7886C>T	c.(7885-7887)ACG>ATG	p.T2629M	EP400_uc001ujl.2_Missense_Mutation_p.T2628M|EP400_uc001ujm.2_Missense_Mutation_p.T2548M|EP400_uc001ujp.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2665	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		CTTTTCTAGACGCCGGGAGGC	0.617													T	132546656	C	T	132546656	3	4	288	1	0	0	0	0	1	0	0	0	5149	550	19	1	8061	1	EP400	12	132546656	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	14441239	132546656	1305239	122	147385											
MTUS2	23281	broad.mit.edu	37	chr13	29608101	29608101	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctccaactttctatcggtCagccatgctccttaagcccc	5	18	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:29608101C>T	uc001usl.3	+	2	2373	c.2315C>T	c.(2314-2316)TCA>TTA	p.S772L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	762	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTCTATCGGTCAGCCATGCTC	0.463													T	29608101	C	T	29608101	3	4	288	1	0	0	0	0	1	0	0	0	9966	838	29	4	2321	4	MTUS2	13	29608101	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08		29608101	85561777	123	147386											
NBEA	26960	broad.mit.edu	37	chr13	35644947	35644947	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccactttttgcccaattggAtaataggcagctcaatgaca	7	10	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:35644947A>T	uc001uvb.2	+	11	1735	c.1529A>T	c.(1528-1530)GAT>GTT	p.D510V		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	510						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		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)		GCCCAATTGGATAATAGGCAG	0.368													T	35644947	A	T	35644947	3	4	288	1	0	0	0	0	1	0	0	0	10187	333	12	5	1567	5	NBEA	13	35644947	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	6036846	35644947	79524931	124	147387											
POSTN	10631	broad.mit.edu	37	chr13	38137480	38137480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggattttcactgagaaCgaccttcccttaatcgtctt	6	10	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:38137480C>T	uc001uwo.3	-	23	2619	c.2501G>A	c.(2500-2502)CGT>CAT	p.R834H	POSTN_uc010tet.1_Missense_Mutation_p.R335H|POSTN_uc001uwp.3_Missense_Mutation_p.R777H|POSTN_uc001uwr.2_Missense_Mutation_p.R779H|POSTN_uc001uwq.2_Missense_Mutation_p.R749H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	834					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		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)		TCACTGAGAACGACCTTCCCT	0.308													T	38137480	C	T	38137480	3	4	288	1	0	0	0	0	1	0	0	0	12259	536	19	1	13	1	POSTN	13	38137480	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	2492533	38137480	77032398	125	147388											
MTRF1	9617	broad.mit.edu	37	chr13	41834883	41834883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcctggaccaattcttaCttaacagatgaagaatgcaa	6	9	2	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:41834883C>T	uc001uxx.2	-	4	631	c.161G>A	c.(160-162)AGT>AAT	p.S54N	MTRF1_uc001uxy.2_Missense_Mutation_p.S54N|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Missense_Mutation_p.S67N|MTRF1_uc001uyc.1_Missense_Mutation_p.S54N	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	54					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		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)		CCAATTCTTACTTAACAGATG	0.388													T	41834883	C	T	41834883	3	4	288	1	0	0	0	0	1	0	0	0	9959	565	20	4	1212	4	MTRF1	13	41834883	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	3697403	41834883	73334995	126	147389											
PCDH8	5100	broad.mit.edu	37	chr13	53420277	53420277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgatggcgatgatggcGgccagcagcagcgtgcagct	18	10	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:53420277G>A	uc001vhi.2	-	1	2498	c.2295C>T	c.(2293-2295)GCC>GCT	p.A765A	PCDH8_uc001vhj.2_Silent_p.A765A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	765	Helical; (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		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)		CGATGATGGCGGCCAGCAGCA	0.607													A	53420277	G	A	53420277	2	1	288	1	0	0	0	0	0	0	0	1	11517	1103	39	1		1	PCDH8	13	53420277	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	11585394	53420277	61749601	127	147390											
MYCBP2	23077	broad.mit.edu	37	chr13	77664288	77664288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggaatagctttaactcgtGcaggtaaaatggagtgttgt	12	4	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:77664288G>T	uc001vkf.2	-	61	10455	c.10364C>A	c.(10363-10365)GCA>GAA	p.A3455E	MYCBP2_uc010aev.2_Missense_Mutation_p.A2859E|MYCBP2_uc001vke.2_Missense_Mutation_p.A75E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTAACTCGTGCAGGTAAAAT	0.358													T	77664288	G	T	77664288	3	4	288	1	0	0	0	0	1	0	0	0	10018	1319	46	5	3654	5	MYCBP2	13	77664288	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	24244011	77664288	37505590	128	147391											
OCA2	4948	broad.mit.edu	37	chr15	28261279	28261279	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acctcaaaggtcctgctcatCactgagtgctcgcttctcct	7	15	4	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:28261279C>G	uc001zbh.3	-	8	971	c.861G>C	c.(859-861)GTG>GTC	p.V287V	OCA2_uc010ayv.2_Silent_p.V287V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	287	Extracellular (Potential).				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			ovary(3)|breast(1)|pancreas(1)	5		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)		TCCTGCTCATCACTGAGTGCT	0.502									Oculocutaneous_Albinism				G	28261279	C	G	28261279	2	3	288	1	0	0	0	0	0	0	0	1	10815	813	29	5		5	OCA2	15	28261279	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08		28261279	74270113	129	147392											
FMN1	342184	broad.mit.edu	37	chr15	33261648	33261648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcattgcatgctcgccccGgatatgaaatgcccgaagtt	9	11	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:33261648G>A	uc001zhf.3	-	4	1585	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	752	Potential.|Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		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)		TGCTCGCCCCGGATATGAAAT	0.403													A	33261648	G	A	33261648	3	1	288	1	0	0	0	0	1	0	0	0	5949	1115	39	1	2061	1	FMN1	15	33261648	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	5000369	33261648	69269744	130	147393											
RPAP1	26015	broad.mit.edu	37	chr15	41812627	41812627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctcgcaaggctcccaCgtgttccccaaagagggcaa	11	14	0	2	rs143725774	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:41812627C>T	uc001zod.2	-	22	3881	c.3757G>A	c.(3757-3759)GTG>ATG	p.V1253M	RPAP1_uc001zoc.2_Missense_Mutation_p.V272M	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1253	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAGGCTCCCACGTGTTCCCCA	0.642													T	41812627	C	T	41812627	3	4	288	1	0	0	0	0	1	0	0	0	13541	536	19	1	440	1	RPAP1	15	41812627	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	8550979	41812627	60718765	131	147394											
MYO5A	4644	broad.mit.edu	37	chr15	52667640	52667640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttgctgccttggttctgCgcagaaacttagcatagctg	12	9	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:52667640C>A	uc002aby.2	-	20	2682	c.2438G>T	c.(2437-2439)CGC>CTC	p.R813L	MYO5A_uc002abx.3_Missense_Mutation_p.R813L|MYO5A_uc010uge.1_Missense_Mutation_p.R682L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	813	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGGTTCTGCGCAGAAACTT	0.413													A	52667640	C	A	52667640	3	1	288	1	0	0	0	0	1	0	0	0	10078	768	27	5	3217	5	MYO5A	15	52667640	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	10855013	52667640	49863752	132	147395											
CILP	8483	broad.mit.edu	37	chr15	65491108	65491108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtacacatggccaaagcGcatgggctccccattgtcag	10	13	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:65491108G>A	uc002aon.2	-	9	1697	c.1516C>T	c.(1516-1518)CGC>TGC	p.R506C		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	506					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TGGCCAAAGCGCATGGGCTCC	0.607													A	65491108	G	A	65491108	3	1	288	1	0	0	0	0	1	0	0	0	3429	1087	38	1	2042	1	CILP	15	65491108	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	12823468	65491108	37040284	133	147396											
C15orf59	388135	broad.mit.edu	37	chr15	74032739	74032739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtagtcagggccagccCctggccgagtcgactcggga	17	13	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:74032739C>T	uc002avy.2	-	2	746	c.401G>A	c.(400-402)GGG>GAG	p.G134E		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	134										pancreas(1)	1						AGGGCCAGCCCCTGGCCGAGT	0.627													T	74032739	C	T	74032739	3	4	288	1	0	0	0	0	1	0	0	0	1807	623	22	4	484	4	C15orf59	15	74032739	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	8541631	74032739	28498653	134	147397											
ARNT2	9915	broad.mit.edu	37	chr15	80806710	80806710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccaatatgctgtggtcCactgtacaggatacatcaag	9	10	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:80806710C>T	uc002bfr.2	+	8	1007	c.841C>T	c.(841-843)CAC>TAC	p.H281Y	ARNT2_uc010unm.1_Missense_Mutation_p.H270Y|ARNT2_uc002bfs.2_Missense_Mutation_p.H270Y	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	281					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			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGCTGTGGTCCACTGTACAGG	0.493													T	80806710	C	T	80806710	3	4	288	1	0	0	0	0	1	0	0	0	966	594	21	4	871	4	ARNT2	15	80806710	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	6773971	80806710	21724682	135	147398											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84539669	84539669	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggctccgagaggcaaacTtttaagattccaggacctct	11	10	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:84539669T>G	uc002bjz.3	+	9	1142	c.918T>G	c.(916-918)ACT>ACG	p.T306T	ADAMTSL3_uc010bmt.1_Silent_p.T306T|ADAMTSL3_uc010bmu.1_Silent_p.T306T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	306						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGCAAACTTTTAAGATTC	0.438													G	84539669	T	G	84539669	2	3	288	1	0	0	0	0	0	0	0	1	276	1596	56	5		5	ADAMTSL3	15	84539669	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	3732959	84539669	17991723	136	147399											
ZNF267	10308	broad.mit.edu	37	chr16	31926651	31926652	+	Frame_Shift_Ins	INS	-	-	T													atgtggcaaggtctttaaccINSttaactgtagtttatacctt							TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr16:31926651_31926652insT	uc002ecs.3	+	4	1290_1291	c.1081_1082insT	c.(1081-1083)CTTfs	p.L361fs		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	361					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						GGTCTTTAACCTTAACTGTAGT	0.371													T	31926652	-	T	31926651	7	5	288	1	0	1	1	0	0	0	0	0	17803	681	24	0	1095	0	ZNF267	16	31926651	Frame_Shift_Ins	INS	-	TCGA-IN-8663-01A-11D-2394-08		31926651	58428102	137	147400	786	2									
ZNF267	10308	broad.mit.edu	37	chr16	31926652	31926653	+	Frame_Shift_Ins	INS	-	-	T													tgtggcaaggtctttaacctINStaactgtagtttatacctta							TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr16:31926651_31926652C>CT	uc002ecs.4	+	3	1290_1291	c.1081_1082C>CT	c.(1081-1083)cttfs	p.L361fs		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	361					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						GGTCTTTAACCTTAACTGTAGT	0.371													T	31926653	-	T	31926652	7	5	288	1	0	1	1	0	0	0	0	0	17803	1609	56	0	1096	0	ZNF267	16	31926652	Frame_Shift_Ins	INS	-	TCGA-IN-8663-01A-11D-2394-08	1	31926652	58428101	138	147401	786	2									
ADAMTS18	170692	broad.mit.edu	37	chr16	77327095	77327095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcggggagggtttctgCggcagagcccttgcagagga	17	10	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr16:77327095C>T	uc002ffc.3	-	20	3486	c.3067G>A	c.(3067-3069)GCA>ACA	p.A1023T	ADAMTS18_uc010chc.1_Missense_Mutation_p.A611T	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1023	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AGGGTTTCTGCGGCAGAGCCC	0.562													T	77327095	C	T	77327095	3	4	288	1	0	0	0	0	1	0	0	0	263	768	27	1	614	1	ADAMTS18	16	77327095	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	45400443	77327095	13027658	139	147402											
DNAH2	146754	broad.mit.edu	37	chr17	7689646	7689646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgccggagaccctaacTtcaacattgttagagtacgg	11	12	1	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:7689646T>G	uc002giu.1	+	39	6348	c.6334T>G	c.(6334-6336)TTC>GTC	p.F2112V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2112	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGACCCTAACTTCAACATTGT	0.597													G	7689646	T	G	7689646	3	3	288	1	0	0	0	0	1	0	0	0	4602	1609	56	5	6488	5	DNAH2	17	7689646	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08		7689646	73505564	140	147403											
ZNF287	57336	broad.mit.edu	37	chr17	16470856	16470856	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagttgactcaatgcctttcGaggaccagccaggtctgggt	13	10	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:16470856G>C	uc002gqi.2	-	2	643	c.190C>G	c.(190-192)CGA>GGA	p.R64G		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	57	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AATGCCTTTCGAGGACCAGCC	0.463													C	16470856	G	C	16470856	3	2	288	1	0	0	0	0	1	0	0	0	17822	1066	37	5	2115	5	ZNF287	17	16470856	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	8781210	16470856	64724354	141	147404											
ERBB2	2064	broad.mit.edu	37	chr17	37863285	37863285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcggctccctgccagtcCcgagacccacctggacatgc	11	18	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:37863285C>T	uc002hso.2	+	2	354	c.116C>T	c.(115-117)CCC>CTC	p.P39L	ERBB2_uc002hsm.2_Missense_Mutation_p.P9L|ERBB2_uc010cwa.2_Missense_Mutation_p.P24L|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.P39L|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.P9L|ERBB2_uc002hsn.1_Missense_Mutation_p.P39L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	39	Extracellular (Potential).				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			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	CCTGCCAGTCCCGAGACCCAC	0.642		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37863285	C	T	37863285	3	4	288	1	0	0	0	0	1	0	0	0	5206	623	22	4	122	4	ERBB2	17	37863285	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	21392429	37863285	43331925	142	147405											
ERBB2	2064	broad.mit.edu	37	chr17	37880998	37880998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcatacgtgatggctgGtgtgggctccccatatgtct	14	9	1	1	rs144434331		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:37880998G>T	uc002hso.2	+	20	2565	c.2327G>T	c.(2326-2328)GGT>GTT	p.G776V	ERBB2_uc002hsm.2_Missense_Mutation_p.G746V|ERBB2_uc010cwa.2_Missense_Mutation_p.G761V|ERBB2_uc002hsp.2_Missense_Mutation_p.G579V|ERBB2_uc010cwb.2_Missense_Mutation_p.G776V|ERBB2_uc010wek.1_Missense_Mutation_p.G500V	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	776	Cytoplasmic (Potential).|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	p.A775_G776insYVMA(19)|p.G776>VC(8)|p.G776>LC(3)|p.G776V(2)|p.G776S(2)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	GTGATGGCTGGTGTGGGCTCC	0.577		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			T	37880998	G	T	37880998	3	4	288	1	0	0	0	0	1	0	0	0	5206	1261	44	5	2405	5	ERBB2	17	37880998	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	17713	37880998	43314212	143	147406											
ATP6V0A1	535	broad.mit.edu	37	chr17	40650953	40650953	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgacagatttggaacatTgctaccaataaactgacgtt	7	7	0	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:40650953T>C	uc002hzr.2	+	15	1739	c.1572T>C	c.(1570-1572)ATT>ATC	p.I524I	ATP6V0A1_uc002hzq.2_Silent_p.I524I|ATP6V0A1_uc002hzs.2_Silent_p.I531I|ATP6V0A1_uc010wgj.1_Silent_p.I481I|ATP6V0A1_uc010wgk.1_Silent_p.I481I|ATP6V0A1_uc010cyg.2_Silent_p.I170I|ATP6V0A1_uc010wgl.1_Silent_p.I383I	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	524	Cytoplasmic (Potential).				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			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTTGGAACATTGCTACCAATA	0.328													C	40650953	T	C	40650953	2	2	288	1	0	0	0	0	0	0	0	1	1168	1800	63	3		3	ATP6V0A1	17	40650953	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	2769955	40650953	40544257	144	147407											
INTS2	57508	broad.mit.edu	37	chr17	59946443	59946443	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctaaacgagccacactaaGtgactttggtaatgcatatt	8	8	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:59946443G>C	uc002izn.2	-	23	3296	c.3220C>G	c.(3220-3222)CTT>GTT	p.L1074V	INTS2_uc002izm.2_Missense_Mutation_p.L1066V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1074					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						GCCACACTAAGTGACTTTGGT	0.343													C	59946443	G	C	59946443	3	2	288	1	0	0	0	0	1	0	0	0	7778	1029	36	5	406	5	INTS2	17	59946443	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	19295490	59946443	21248767	145	147408											
AATK	9625	broad.mit.edu	37	chr17	79095778	79095778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagcggcagcgggggcGcccctgagctccccaaaggg	16	15	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:79095778G>A	uc010dia.2	-	11	2038	c.1958C>T	c.(1957-1959)GCG>GTG	p.A653V	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	653						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGCGGGGGCGCCCCTGAGCT	0.706													A	79095778	G	A	79095778	3	1	288	1	0	0	0	0	1	0	0	0	26	1087	38	1	2182	1	AATK	17	79095778	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	19149335	79095778	2099432	146	147409											
LAMA1	284217	broad.mit.edu	37	chr18	6977748	6977748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcttgtttgcgggccTggctgatcaacagtttaatt	11	8	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:6977748T>C	uc002knm.2	-	44	6417	c.6323A>G	c.(6322-6324)CAG>CGG	p.Q2108R	LAMA1_uc010wzj.1_Missense_Mutation_p.Q1584R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2108	Domain II and I.|Potential.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGCGGGCCTGGCTGATCAA	0.488													C	6977748	T	C	6977748	3	2	288	1	0	0	0	0	1	0	0	0	8605	1580	55	3	2984	3	LAMA1	18	6977748	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08		6977748	71099500	147	147410											
TCEB3B	51224	broad.mit.edu	37	chr18	44559804	44559804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctctggggcgtccggaAgccgcaggtactgctccctc	14	15	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:44559804A>G	uc002lcr.1	-	1	2185	c.1832T>C	c.(1831-1833)CTT>CCT	p.L611P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	611	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGCGTCCGGAAGCCGCAGGTA	0.502													G	44559804	A	G	44559804	3	3	288	1	0	0	0	0	1	0	0	0	15679	72	3	3	433	3	TCEB3B	18	44559804	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	37582056	44559804	33517444	148	147411											
CXXC1	30827	broad.mit.edu	37	chr18	47813192	47813192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggacttgctgtcctcccCggcatctggaggctctgggt	13	14	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:47813192C>T	uc002leq.3	-	2	773	c.40G>A	c.(40-42)GGG>AGG	p.G14R	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.G14R|CXXC1_uc010doy.2_Missense_Mutation_p.G14R|CXXC1_uc002les.2_Missense_Mutation_p.G14R	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	14					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			upper_aerodigestive_tract(1)|ovary(1)	2						CTGTCCTCCCCGGCATCTGGA	0.597													T	47813192	C	T	47813192	3	4	288	1	0	0	0	0	1	0	0	0	4097	652	23	1	1998	1	CXXC1	18	47813192	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	3253388	47813192	30264056	149	147412											
DCC	1630	broad.mit.edu	37	chr18	50985613	50985613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccataggaaacgggccaCccacagtgctggcaaaagga	12	11	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:50985613C>T	uc002lfe.1	+	24	3991	c.3404C>T	c.(3403-3405)ACC>ATC	p.T1135I	DCC_uc010dpf.1_Missense_Mutation_p.T770I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1135	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACGGGCCACCCACAGTGCT	0.448													T	50985613	C	T	50985613	3	4	288	1	0	0	0	0	1	0	0	0	4282	507	18	4	3498	4	DCC	18	50985613	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	3172421	50985613	27091635	150	147413											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1508022	1508022	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcacgaaacacgcgctgcacGaaaaggcacgagtcgttggc	12	12	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:1508022G>C	uc002ltd.2	-	7	1020	c.576C>G	c.(574-576)TTC>TTG	p.F192L	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.F202L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	192						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CGCGCTGCACGAAAAGGCACG	0.652													C	1508022	G	C	1508022	3	2	288	1	0	0	0	0	1	0	0	0	278	1049	37	5	863	5	ADAMTSL5	19	1508022	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08		1508022	57620961	151	147414											
C3	718	broad.mit.edu	37	chr19	6694539	6694539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagcgatgaccgtgggCgtcatgccgatcatgttctg	13	11	3	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:6694539C>T	uc002mfm.2	-	24	3119	c.3057G>A	c.(3055-3057)ACG>ACA	p.T1019T	C3_uc002mfl.2_5'Flank	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1019					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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGACCGTGGGCGTCATGCCGA	0.607													T	6694539	C	T	6694539	2	4	288	1	0	0	0	0	0	0	0	1	2204	755	27	1		1	C3	19	6694539	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	5186517	6694539	52434444	152	147415											
OR2Z1	284383	broad.mit.edu	37	chr19	8841424	8841424	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcagtcggtggcctcagacTtcattctggtgggcctcttc	11	12	5	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:8841424T>A	uc010xkg.1	+	1	34	c.34T>A	c.(34-36)TTC>ATC	p.F12I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						GGCCTCAGACTTCATTCTGGT	0.502													A	8841424	T	A	8841424	3	1	288	1	0	0	0	0	1	0	0	0	11036	1609	56	5	36	5	OR2Z1	19	8841424	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	2146885	8841424	50287559	153	147416											
OR7D4	125958	broad.mit.edu	37	chr19	9324989	9324989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggttcacagaagaaatgCggaatctcagtgcctgtgga	13	9	2	2	rs111293642	byFrequency	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:9324989C>T	uc002mla.1	-	1	525	c.525G>A	c.(523-525)CCG>CCA	p.P175P		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGAAGAAATGCGGAATCTCAG	0.507													T	9324989	C	T	9324989	2	4	288	1	0	0	0	0	0	0	0	1	11220	755	27	1		1	OR7D4	19	9324989	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	483565	9324989	49803994	154	147417											
CALR3	125972	broad.mit.edu	37	chr19	16590003	16590003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgcctgttaatttttcccGacagcagctcttcctcctct	6	15	2	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:16590003G>A	uc002ned.2	-	9	1157	c.1094C>T	c.(1093-1095)TCG>TTG	p.S365L	MED26_uc002nee.2_RNA	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	365	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						AATTTTTCCCGACAGCAGCTC	0.443													A	16590003	G	A	16590003	3	1	288	1	0	0	0	0	1	0	0	0	2593	1059	37	1	64	1	CALR3	19	16590003	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	7265014	16590003	42538980	155	147418											
MAP1S	55201	broad.mit.edu	37	chr19	17838295	17838295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggacgagtccctgtcggtgtCctttgagcaggtgctgccgc	15	12	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:17838295C>G	uc002nhe.1	+	5	2111	c.2102C>G	c.(2101-2103)TCC>TGC	p.S701C	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.S675C	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	701	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for interaction with RASSF1 isoform A and isoform C.				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			central_nervous_system(1)	1						CTGTCGGTGTCCTTTGAGCAG	0.711													G	17838295	C	G	17838295	3	3	288	1	0	0	0	0	1	0	0	0	9234	855	30	5	2120	5	MAP1S	19	17838295	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	1248292	17838295	41290688	156	147419											
FKBP8	23770	broad.mit.edu	37	chr19	18652694	18652694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctctgcatcctcaacCccatccagtacctcgaagtc	4	19	3	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:18652694C>T	uc002njk.1	-	2	200	c.87G>A	c.(85-87)GGG>GGA	p.G29G	FKBP8_uc002nji.1_5'Flank|FKBP8_uc010xqi.1_Silent_p.G58G|FKBP8_uc002njj.1_Silent_p.G29G|FKBP8_uc002njl.1_Silent_p.G29G|FKBP8_uc002njm.1_Silent_p.G29G|FKBP8_uc010ebr.1_5'UTR|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	29	Glu-rich.				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			ovary(1)	1						CATCCTCAACCCCATCCAGTA	0.547													T	18652694	C	T	18652694	2	4	288	1	0	0	0	0	0	0	0	1	5914	610	22	4		4	FKBP8	19	18652694	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	814399	18652694	40476289	157	147420											
ZNF486	90649	broad.mit.edu	37	chr19	20295168	20295168	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgtgtttttcaggaaTcattgcaatttagagatgtg	12	3	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:20295168T>C	uc002nou.2	+	2	91	c.34T>C	c.(34-36)TCA>CCA	p.S12P		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTTCAGGAATCATTGCAATT	0.398													C	20295168	T	C	20295168	3	2	288	1	0	0	0	0	1	0	0	0	17936	1435	50	3	40	3	ZNF486	19	20295168	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	1642474	20295168	38833815	158	147421											
PAK4	10298	broad.mit.edu	37	chr19	39664631	39664631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgcaagcagcagaggcGcgagctgctcttcaacgagg	14	13	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:39664631G>A	uc002okj.1	+	6	1540	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	PAK4_uc002okl.1_Missense_Mutation_p.R360H|PAK4_uc002okn.1_Missense_Mutation_p.R360H|PAK4_uc002okm.1_Missense_Mutation_p.R207H|PAK4_uc002oko.1_Missense_Mutation_p.R207H|PAK4_uc002okp.1_Missense_Mutation_p.R270H	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	360	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CAGCAGAGGCGCGAGCTGCTC	0.517													A	39664631	G	A	39664631	3	1	288	1	0	0	0	0	1	0	0	0	11403	1087	38	1	1089	1	PAK4	19	39664631	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	19369463	39664631	19464352	159	147422											
ZC3H4	23211	broad.mit.edu	37	chr19	47597703	47597703	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctctttctcccgctctttCttccgtttccgcttcagtct	4	16	6	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:47597703C>G	uc002pga.3	-	3	362	c.324G>C	c.(322-324)AAG>AAC	p.K108N	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	108	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		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)		CCCGCTCTTTCTTCCGTTTCC	0.552													G	47597703	C	G	47597703	3	3	288	1	0	0	0	0	1	0	0	0	17567	912	32	5	3639	5	ZC3H4	19	47597703	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	7933072	47597703	11531280	160	147423											
RCN3	57333	broad.mit.edu	37	chr19	50031892	50031892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacgggaacttccagtacGaccatgaggctttcctggga	11	13	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:50031892G>A	uc002poj.2	+	2	610	c.163G>A	c.(163-165)GAC>AAC	p.D55N		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	55						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CTTCCAGTACGACCATGAGGC	0.642													A	50031892	G	A	50031892	3	1	288	1	0	0	0	0	1	0	0	0	13181	1058	37	1	165	1	RCN3	19	50031892	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	2434189	50031892	9097091	161	147424											
ZNF347	84671	broad.mit.edu	37	chr19	53644890	53644890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccactgtgggttgcctgatg	10	7	1	1	rs145023051		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53644890T>C	uc002qbb.1	-	5	1260	c.1191A>G	c.(1189-1191)GGA>GGG	p.G397G	ZNF347_uc010eql.1_Silent_p.G398G|ZNF347_uc002qbc.1_Silent_p.G398G	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCACTGTGGG	0.413													C	53644890	T	C	53644890	2	2	288	1	0	0	0	0	0	0	0	1	17858	1538	54	3		3	ZNF347	19	53644890	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	3612998	53644890	5484093	162	147425											
VN1R2	317701	broad.mit.edu	37	chr19	53762323	53762323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttttcctatttatacaaCtggcaaatggagcaacaaca	5	9	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53762323C>A	uc002qbi.2	+	1	779	c.695C>A	c.(694-696)ACT>AAT	p.T232N		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	232	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		ATTTATACAACTGGCAAATGG	0.423													A	53762323	C	A	53762323	3	1	288	1	0	0	0	0	1	0	0	0	17176	565	20	5	697	5	VN1R2	19	53762323	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	117433	53762323	5366660	163	147426											
VN1R4	317703	broad.mit.edu	37	chr19	53770580	53770580	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagttttgcccacctggaTttcctggagctgaccgtgat	10	10	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53770580T>C	uc010ydu.1	-	1	339	c.339A>G	c.(337-339)AAA>AAG	p.K113K		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	113	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		CCCACCTGGATTTCCTGGAGC	0.498										HNSCC(26;0.072)			C	53770580	T	C	53770580	2	2	288	1	0	0	0	0	0	0	0	1	17177	1490	52	3		3	VN1R4	19	53770580	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	8257	53770580	5358403	164	147427											
VN1R4	317703	broad.mit.edu	37	chr19	53770593	53770593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggatttcctggagctgAccgtgatcacctggaagaca	11	11	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53770593A>C	uc010ydu.1	-	1	326	c.326T>G	c.(325-327)GTC>GGC	p.V109G		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	109	Helical; Name=3; (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		CCTGGAGCTGACCGTGATCAC	0.502										HNSCC(26;0.072)			C	53770593	A	C	53770593	3	2	288	1	0	0	0	0	1	0	0	0	17177	275	10	5	582	5	VN1R4	19	53770593	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	13	53770593	5358390	165	147428											
CNOT3	4849	broad.mit.edu	37	chr19	54659088	54659090	+	In_Frame_Del	DEL	GAA	GAA	-													tacgagaagtggggccagcgGaagaaggaaggcttcacctt							TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:54659088_54659090delGAA	uc002qdj.1	+	18	2516_2518	c.2205_2207delGAA	c.(2203-2208)CGGAAG>CGG	p.K737del	CNOT3_uc002qdi.2_3'UTR|CNOT3_uc002qdk.1_In_Frame_Del_p.K737del|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	737					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGGCCAGCGGAAGAAGGAAGGC	0.635													-	54659090	GAA	-	54659088	7	5	288	1	0	1	0	1	0	0	0	0	3620	1161	41	0	2271	0	CNOT3	19	54659088	In_Frame_Del	DEL	GAA	TCGA-IN-8663-01A-11D-2394-08	888495	54659088	4469895	166	147429											
TMC4	147798	broad.mit.edu	37	chr19	54664210	54664210	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctggctcaccgtctgTctctgacgtttgagctcaga	10	15	4	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:54664210T>C	uc010erf.2	-	14	2196	c.2064A>G	c.(2062-2064)AGA>AGG	p.R688R	LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.R402R|TMC4_uc002qdo.2_Silent_p.R682R	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	688	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCACCGTCTGTCTCtgacgtt	0.473													C	54664210	T	C	54664210	2	2	288	1	0	0	0	0	0	0	0	1	15984	1664	58	3		3	TMC4	19	54664210	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	5122	54664210	4464773	167	147430											
ZNF471	57573	broad.mit.edu	37	chr19	57037314	57037314	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatactggagaagaaccTtaagaatgtagtgcatgtgg	12	5	1	3			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:57037314T>G	uc002qnh.2	+	5	2011	c.1878T>G	c.(1876-1878)CCT>CCG	p.P626P		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAAGAACCTTAAGAATGTA	0.388													G	57037314	T	G	57037314	2	3	288	1	0	0	0	0	0	0	0	1	17927	1596	56	5		5	ZNF471	19	57037314	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	2373104	57037314	2091669	168	147431											
ZNF71	58491	broad.mit.edu	37	chr19	57133214	57133214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacgggcgagaagccctatGcctgcggggactgcggcaag	16	12	0	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:57133214G>T	uc002qnm.3	+	3	797	c.559G>T	c.(559-561)GCC>TCC	p.A187S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	187	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAAGCCCTATGCCTGCGGGGA	0.632													T	57133214	G	T	57133214	3	4	288	1	0	0	0	0	1	0	0	0	18111	1319	46	5	561	5	ZNF71	19	57133214	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	95900	57133214	1995769	169	147432											
ZNF329	79673	broad.mit.edu	37	chr19	58639918	58639918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggtttcccacattcgTtacatctatatggtttttcc	7	9	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:58639918T>G	uc002qrn.2	-	4	1190	c.953A>C	c.(952-954)AAC>ACC	p.N318T	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	318	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		CCCACATTCGTTACATCTATA	0.428													G	58639918	T	G	58639918	3	3	288	1	0	0	0	0	1	0	0	0	17844	1725	60	5	676	5	ZNF329	19	58639918	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08	1506704	58639918	489065	170	147433											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146889	3146889	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgcctttgaggccaccagGgccctgccgtccctcaggag	12	17	1	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:3146889G>C	uc002wia.1	-	2	1975	c.577C>G	c.(577-579)CCT>GCT	p.P193A	ProSAPiP1_uc002wib.1_Missense_Mutation_p.P193A	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	193						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						AGGCCACCAGGGCCCTGCCGT	0.622													C	3146889	G	C	3146889	3	2	288	1	0	0	0	0	1	0	0	0	12870	1232	43	5	1452	5	ProSAPiP1	20	3146889	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08		3146889	59878631	171	147434											
C20orf196	149840	broad.mit.edu	37	chr20	5843951	5843951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgggtgatcttcaacCgggacggctgctccgtctta	13	13	3	1	rs140278441		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:5843951C>T	uc002wmf.2	+	3	547	c.460C>T	c.(460-462)CGG>TGG	p.R154W		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	154											0						GATCTTCAACCGGGACGGCTG	0.522													T	5843951	C	T	5843951	3	4	288	1	0	0	0	0	1	0	0	0	2101	643	23	1	466	1	C20orf196	20	5843951	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	2697062	5843951	57181569	172	147435											
REM1	28954	broad.mit.edu	37	chr20	30064147	30064147	+	Translation_Start_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagccatacagcagctcatCaggacactatagaaagaagc	9	10	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:30064147C>G	uc002wwa.2	+	2	183	c.-101C>G	c.(-103--99)ATCAG>ATGAG			NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM						small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGCTCATCAGGACACTAT	0.507													G	30064147	C	G	30064147	1	3	288	1	0	0	0	0	0	0	0	0	13222	841	29	5		5	REM1	20	30064147	Translation_Start_Site	SNP	C	TCGA-IN-8663-01A-11D-2394-08	24220196	30064147	32961373	173	147436											
REM1	28954	broad.mit.edu	37	chr20	30064401	30064401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgggccaatcagcctcCctcaaccctcccacccagaa	7	20	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:30064401C>T	uc002wwa.2	+	2	437	c.153C>T	c.(151-153)TCC>TCT	p.S51S		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	51					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AATCAGCCTCCCTCAACCCTC	0.642													T	30064401	C	T	30064401	2	4	288	1	0	0	0	0	0	0	0	1	13222	610	22	4		4	REM1	20	30064401	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	254	30064401	32961119	174	147437											
KCNG1	3755	broad.mit.edu	37	chr20	49626407	49626407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtccaggtggtcctccgCgatgccccagtacagcagct	12	16	0	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:49626407C>T	uc002xwa.3	-	2	764	c.469G>A	c.(469-471)GCG>ACG	p.A157T	KCNG1_uc002xwb.2_Missense_Mutation_p.A157T	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	157	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TGGTCCTCCGCGATGCCCCAG	0.657													T	49626407	C	T	49626407	3	4	288	1	0	0	0	0	1	0	0	0	8027	768	27	1	1080	1	KCNG1	20	49626407	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	19562006	49626407	13399113	175	147438											
BRWD1	54014	broad.mit.edu	37	chr21	40571563	40571563	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgagtggcttttctgccAcatccatttgctaatgaaac	7	10	1	1	rs2234546		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr21:40571563A>G	uc002yxk.1	-	40	4918	c.4779T>C	c.(4777-4779)TGT>TGC	p.C1593C	BRWD1_uc010goc.1_Silent_p.C236C|BRWD1_uc002yxl.2_Silent_p.C1593C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTTTCTGCCACATCCATTTG	0.318											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	40571563	A	G	40571563	2	3	288	1	0	0	0	0	0	0	0	1	1525	157	6	3		3	BRWD1	21	40571563	Silent	SNP	A	TCGA-IN-8663-01A-11D-2394-08		40571563	7558332	176	147439											
ARVCF	421	broad.mit.edu	37	chr22	19960533	19960533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgcagcacgtgtgacGccgccttcgcttcgcgtacc	11	16	1	1	rs115199082	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr22:19960533G>A	uc002zqz.2	-	15	2736	c.2465C>T	c.(2464-2466)GCG>GTG	p.A822V	ARVCF_uc002zqy.2_Missense_Mutation_p.A338V	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	822	ARM 10.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CACGTGTGACGCCGCCTTCGC	0.687													A	19960533	G	A	19960533	3	1	288	1	0	0	0	0	1	0	0	0	1003	1087	38	1	443	1	ARVCF	22	19960533	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08		19960533	31344033	177	147440											
TOM1	10043	broad.mit.edu	37	chr22	35743071	35743071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacaaattcctggaagaaCgggccaaagccgcggaccga	12	11	0	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr22:35743071C>T	uc003ann.2	+	15	1473	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W	TOM1_uc011ami.1_Missense_Mutation_p.R418W|TOM1_uc011amj.1_Missense_Mutation_p.R293W|TOM1_uc003ans.2_Missense_Mutation_p.R293W|TOM1_uc011amk.1_Missense_Mutation_p.R412W|TOM1_uc003anp.2_Missense_Mutation_p.R451W|TOM1_uc011aml.1_Missense_Mutation_p.R405W|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.R444W|TOM1_uc003anr.2_Missense_Mutation_p.R293W	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	450					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CCTGGAAGAACGGGCCAAAGC	0.672													T	35743071	C	T	35743071	3	4	288	1	0	0	0	0	1	0	0	0	16348	527	19	1	1409	1	TOM1	22	35743071	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	15782538	35743071	15561495	178	147441											
APOL2	23780	broad.mit.edu	37	chr22	36624137	36624137	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaatggtggtgcctctgtgGacctgctcaacctcctctgc	11	14	3	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr22:36624137G>A	uc003aoz.2	-	5	663	c.327C>T	c.(325-327)GTC>GTT	p.V109V	APOL2_uc011amm.1_Silent_p.V221V|APOL2_uc003apa.2_Silent_p.V109V	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	109					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				0						TGCCTCTGTGGACCTGCTCAA	0.552													A	36624137	G	A	36624137	2	1	288	1	0	0	0	0	0	0	0	1	806	1161	41	4		4	APOL2	22	36624137	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	881066	36624137	14680429	179	147442											
SCML2	10389	broad.mit.edu	37	chrX	18352182	18352182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcttaccttcattcactgTttgtcccatggtatccctat	4	12	3	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:18352182T>G	uc004cyl.2	-	2	167	c.10A>C	c.(10-12)ACA>CCA	p.T4P	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.T4P|SCML2_uc011miz.1_5'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	4					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					TCATTCACTGTTTGTCCCATG	0.328													G	18352182	T	G	18352182	3	3	288	1	0	0	0	0	1	0	0	0	13910	1725	60	5	2148	5	SCML2	23	18352182	Missense_Mutation	SNP	T	TCGA-IN-8663-01A-11D-2394-08		18352182	136918378	180	147443											
MAGEB4	4115	broad.mit.edu	37	chrX	30261268	30261268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgtattccagggccacatCcagtagctcttcccaaccca	7	16	1	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:30261268C>T	uc004dcb.2	+	1	1100	c.1016C>T	c.(1015-1017)TCC>TTC	p.S339F	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	339										ovary(1)	1						AGGGCCACATCCAGTAGCTCT	0.512													T	30261268	C	T	30261268	3	4	288	1	0	0	0	0	1	0	0	0	9178	855	30	4	1018	4	MAGEB4	23	30261268	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	11909086	30261268	125009292	181	147444											
KLHL4	56062	broad.mit.edu	37	chrX	86877393	86877393	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactggggatgctgctttcTtacatcagactgccattact	9	10	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:86877393T>G	uc004efb.2	+	5	1289	c.1107T>G	c.(1105-1107)TCT>TCG	p.S369S	KLHL4_uc004efa.2_Silent_p.S369S	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	369						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TGCTGCTTTCTTACATCAGAC	0.413													G	86877393	T	G	86877393	2	3	288	1	0	0	0	0	0	0	0	1	8391	1596	56	5		5	KLHL4	23	86877393	Silent	SNP	T	TCGA-IN-8663-01A-11D-2394-08	56616125	86877393	68393167	182	147445											
NAP1L3	4675	broad.mit.edu	37	chrX	92927344	92927344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcccgagcttgtcaacattCtttaaaacaatcagccaata	6	11	3	0			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:92927344C>T	uc004efq.2	-	1	1265	c.960G>A	c.(958-960)AAG>AAA	p.K320K	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	320					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TGTCAACATTCTTTAAAACAA	0.438													T	92927344	C	T	92927344	2	4	288	1	0	0	0	0	0	0	0	1	10158	912	32	4		4	NAP1L3	23	92927344	Silent	SNP	C	TCGA-IN-8663-01A-11D-2394-08	6049951	92927344	62343216	183	147446											
NRK	203447	broad.mit.edu	37	chrX	105190451	105190451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgatgtgaccctgccaAagaatgtaagataacacctt	8	9	1	4			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:105190451A>C	uc004emd.2	+	26	4651	c.4348A>C	c.(4348-4350)AAG>CAG	p.K1450Q	NRK_uc011msi.1_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1450	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GACCCTGCCAAAGAATGTAAG	0.348										HNSCC(51;0.14)			C	105190451	A	C	105190451	3	2	288	1	0	0	0	0	1	0	0	0	10655	15	1	5	4450	5	NRK	23	105190451	Missense_Mutation	SNP	A	TCGA-IN-8663-01A-11D-2394-08	12263107	105190451	50080109	184	147447											
SPANXN3	139067	broad.mit.edu	37	chrX	142596856	142596856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggagttctcttgggactGttcattctccagttgatttg	11	7	3	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:142596856G>T	uc004fbw.2	-	2	302	c.214C>A	c.(214-216)CAG>AAG	p.Q72K		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	72										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGACTGTTCATTCTCC	0.388													T	142596856	G	T	142596856	3	4	288	1	0	0	0	0	1	0	0	0	14992	1386	48	5	215	5	SPANXN3	23	142596856	Missense_Mutation	SNP	G	TCGA-IN-8663-01A-11D-2394-08	37406405	142596856	12673704	185	147448											
AFF2	2334	broad.mit.edu	37	chrX	147743836	147743836	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagccaaactggaagacttCtttgtctacccagctgaaca	7	12	2	2			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:147743836C>A	uc004fcp.2	+	3	1067	c.588C>A	c.(586-588)TTC>TTA	p.F196L	AFF2_uc004fco.2_Missense_Mutation_p.F192L|AFF2_uc004fcq.2_Missense_Mutation_p.F192L|AFF2_uc004fcr.2_Missense_Mutation_p.F192L|AFF2_uc011mxb.1_Missense_Mutation_p.F196L|AFF2_uc004fcs.2_Missense_Mutation_p.F192L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	196					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAAGACTTCTTTGTCTACC	0.483													A	147743836	C	A	147743836	3	1	288	1	0	0	0	0	1	0	0	0	357	912	32	5	598	5	AFF2	23	147743836	Missense_Mutation	SNP	C	TCGA-IN-8663-01A-11D-2394-08	5146980	147743836	7526724	186	147449											
FLNA	2316	broad.mit.edu	37	chrX	153592921	153592921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggaagtcctggggcgcGtcacggatgtcagccatgaa	17	9	2	1			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:153592921G>A	uc004fkk.2	-	13	2244	c.1995C>T	c.(1993-1995)GAC>GAT	p.D665D	FLNA_uc010nuu.1_Silent_p.D665D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	665					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)					CCTGGGGCGCGTCACGGATGT	0.622													A	153592921	G	A	153592921	2	1	288	1	0	0	0	0	0	0	0	1	5933	1136	40	1		1	FLNA	23	153592921	Silent	SNP	G	TCGA-IN-8663-01A-11D-2394-08	5849085	153592921	1677639	187	147450											
PTCHD2	57540	broad.mit.edu	37	chr1	11561896	11561896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcatcttcctggcgcgcGgcgacgcggagcgcaacatt	13	14	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:11561896G>A	uc001ash.3	+	2	985	c.847G>A	c.(847-849)GGC>AGC	p.G283S	PTCHD2_uc001asi.1_Missense_Mutation_p.G283S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	283	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	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)		CCTGGCGCGCGGCGACGCGGA	0.647													A	11561896	G	A	11561896	3	1	289	1	0	0	0	0	1	0	0	0	12733	1116	39	1	849	1	PTCHD2	1	11561896	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08		11561896	237688725	1	147451											
CSMD2	114784	broad.mit.edu	37	chr1	34070967	34070967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccagtcaattgatacccCgggaggcactcgaaggtcac	12	12	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:34070967C>T	uc001bxn.1	-	43	6482	c.6453G>A	c.(6451-6453)CCG>CCA	p.P2151P	CSMD2_uc001bxm.1_Silent_p.P2149P|CSMD2_uc001bxo.1_Silent_p.P1022P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2151	Sushi 12.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATTGATACCCCGGGAGGCACT	0.577													T	34070967	C	T	34070967	2	4	289	1	0	0	0	0	0	0	0	1	3945	639	23	1		1	CSMD2	1	34070967	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	22509071	34070967	215179654	2	147452											
DLGAP3	58512	broad.mit.edu	37	chr1	35365751	35365751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagatgtcttggggctgcCgtctgagtctccgctctcct	14	12	4	2	rs146586197	by1000genomes	TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:35365751C>T	uc001byc.2	-	2	1231	c.1231G>A	c.(1231-1233)GGC>AGC	p.G411S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	411					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				TTGGGGCTGCCGTCTGAGTCT	0.642													T	35365751	C	T	35365751	3	4	289	1	0	0	0	0	1	0	0	0	4561	652	23	1	1744	1	DLGAP3	1	35365751	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	1294784	35365751	213884870	3	147453											
COL11A1	1301	broad.mit.edu	37	chr1	103435780	103435780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaaggtcacttacagtctCcccacgttgcccagggtgtc	9	14	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:103435780C>T	uc001dul.2	-	37	3175	c.2857G>A	c.(2857-2859)GAG>AAG	p.E953K	COL11A1_uc001duk.2_Missense_Mutation_p.E149K|COL11A1_uc001dum.2_Missense_Mutation_p.E965K|COL11A1_uc001dun.2_Missense_Mutation_p.E914K|COL11A1_uc009weh.2_Missense_Mutation_p.E837K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	953	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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		CTTACAGTCTCCCCACGTTGC	0.363													T	103435780	C	T	103435780	3	4	289	1	0	0	0	0	1	0	0	0	3667	864	30	4	2687	4	COL11A1	1	103435780	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	68070029	103435780	145814841	4	147454											
SHE	126669	broad.mit.edu	37	chr1	154461630	154461630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccggctgtctgggggccgCgccttcccctctgccctggg	15	17	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:154461630C>T	uc001ffb.2	-	3	1008	c.921G>A	c.(919-921)GCG>GCA	p.A307A	SHE_uc001ffc.2_RNA	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	307										breast(3)|ovary(2)|central_nervous_system(1)	6	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)			CTGGGGGCCGCGCCTTCCCCT	0.662													T	154461630	C	T	154461630	2	4	289	1	0	0	0	0	0	0	0	1	14276	755	27	1		1	SHE	1	154461630	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	51025850	154461630	94788991	5	147455											
OR10X1	128367	broad.mit.edu	37	chr1	158549094	158549094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaagacagcctaataactGccagcatatggcagaagaag	9	9	0	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:158549094G>T	uc010pin.1	-	1	596	c.596C>A	c.(595-597)GCA>GAA	p.A199E		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CCTAATAACTGCCAGCATATG	0.443													T	158549094	G	T	158549094	3	4	289	1	0	0	0	0	1	0	0	0	10922	1319	46	5	379	5	OR10X1	1	158549094	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	4087464	158549094	90701527	6	147456											
PAPPA2	60676	broad.mit.edu	37	chr1	176564113	176564113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgacttggtcctgacagCgagctttgagcctgtgaaca	12	10	0	4			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:176564113C>T	uc001gkz.2	+	3	2537	c.1373C>T	c.(1372-1374)GCG>GTG	p.A458V	PAPPA2_uc001gky.1_Missense_Mutation_p.A458V|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	458	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GTCCTGACAGCGAGCTTTGAG	0.532													T	176564113	C	T	176564113	3	4	289	1	0	0	0	0	1	0	0	0	11433	768	27	1	1379	1	PAPPA2	1	176564113	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	18015019	176564113	72686508	7	147457											
ASTN1	460	broad.mit.edu	37	chr1	176845761	176845761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctgtgttgtccactccCcacagcgtgaacctggcagg	11	15	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:176845761C>A	uc001glc.2	-	21	3587	c.3375G>T	c.(3373-3375)TGG>TGT	p.W1125C	ASTN1_uc001glb.1_Missense_Mutation_p.W1125C|ASTN1_uc001gld.1_Missense_Mutation_p.W1125C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1133	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TGTCCACTCCCCACAGCGTGA	0.602													A	176845761	C	A	176845761	3	1	289	1	0	0	0	0	1	0	0	0	1064	624	22	5	525	5	ASTN1	1	176845761	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	281648	176845761	72404860	8	147458											
ASPM	259266	broad.mit.edu	37	chr1	197070783	197070783	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagcctgaataaccacagcaGaatgccattgtctgatataa	7	10	1	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:197070783G>C	uc001gtu.2	-	18	7855	c.7598C>G	c.(7597-7599)TCT>TGT	p.S2533C	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.S381C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2533	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AACCACAGCAGAATGCCATTG	0.343													C	197070783	G	C	197070783	3	2	289	1	0	0	0	0	1	0	0	0	1056	942	33	5	2879	5	ASPM	1	197070783	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	20225022	197070783	52179838	9	147459											
CRB1	23418	broad.mit.edu	37	chr1	197404316	197404316	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcggaggcatttatctctCttactttgaaaatgttcatg	7	7	3	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:197404316C>T	uc001gtz.2	+	9	3458	c.3323C>T	c.(3322-3324)TCT>TTT	p.S1108F	CRB1_uc010poz.1_Missense_Mutation_p.S1084F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S996F|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.S589F|CRB1_uc001gub.1_Missense_Mutation_p.S757F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1108	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						ATTTATCTCTCTTACTTTGAA	0.363													T	197404316	C	T	197404316	3	4	289	1	0	0	0	0	1	0	0	0	3848	913	32	4	3357	4	CRB1	1	197404316	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	333533	197404316	51846305	10	147460											
KCTD3	51133	broad.mit.edu	37	chr1	215781446	215781446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggttctactcctttagCgtcattcaagatactatccc	6	13	3	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:215781446C>T	uc001hks.2	+	14	1691	c.1397C>T	c.(1396-1398)GCG>GTG	p.A466V	KCTD3_uc001hkt.2_Missense_Mutation_p.A466V|KCTD3_uc010pub.1_Missense_Mutation_p.A364V|KCTD3_uc009xdn.2_Intron	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	466						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ACTCCTTTAGCGTCATTCAAG	0.433													T	215781446	C	T	215781446	3	4	289	1	0	0	0	0	1	0	0	0	8110	768	27	1	1451	1	KCTD3	1	215781446	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	18377130	215781446	33469175	11	147461											
C1orf198	84886	broad.mit.edu	37	chr1	231004179	231004179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagtaagtgaagcgctttCgctcccggtcgtccagaggc	13	11	0	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr1:231004179C>T	uc001hub.2	-	1	124	c.80G>A	c.(79-81)CGA>CAA	p.R27Q	C1orf198_uc001huc.1_Intron|C1orf198_uc001hud.1_Intron	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	27											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAAGCGCTTTCGCTCCCGGTC	0.637													T	231004179	C	T	231004179	3	4	289	1	0	0	0	0	1	0	0	0	2026	884	31	1	919	1	C1orf198	1	231004179	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	15222733	231004179	18246442	12	147462											
PXDN	7837	broad.mit.edu	37	chr2	1653281	1653281	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaggcggtcagcgaggcGccccacatggggtgctgcag	17	12	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:1653281G>T	uc002qxa.2	-	17	2335	c.2271C>A	c.(2269-2271)GGC>GGA	p.G757G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	757					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			pancreas(6)|ovary(2)	8	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)		TCAGCGAGGCGCCCCACATGG	0.637													T	1653281	G	T	1653281	2	4	289	1	0	0	0	0	0	0	0	1	12847	1074	38	5		5	PXDN	2	1653281	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08		1653281	241546092	13	147463											
ADCY3	109	broad.mit.edu	37	chr2	25045416	25045417	+	Frame_Shift_Ins	INS	-	-	G													agccattggtgttgacatcgINSggggtgactcctgaagccgc					rs139344556	byFrequency	TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:25045415_25045416C>CG	uc010ykm.2	-	17	3169_3170	c.2970_2971G>CG	c.(2968-2973)cccgatfs	p.P990fs	ADCY3_uc002rfr.4_Frame_Shift_Ins_p.P576fs|ADCY3_uc002rfs.4_Frame_Shift_Ins_p.P989fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	989					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)					GTGTTGACATCGGGGGTGACTC	0.554													G	25045417	-	G	25045416	7	5	289	1	0	1	1	0	0	0	0	0	295	1103	39	0	483	0	ADCY3	2	25045416	Frame_Shift_Ins	INS	-	TCGA-IP-7968-01A-11D-2201-08	23392135	25045416	218153957	14	147464											
OTOF	9381	broad.mit.edu	37	chr2	26712165	26712165	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttggagtgaatcaccTttcaggcagaaccacagccc	10	12	3	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:26712165T>G	uc002rhk.2	-	11	1088	c.961_splice	c.e11-1	p.V321_splice		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a						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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAATCACCTTTCAGGCAGA	0.612													G	26712165	T	G	26712165	5	3	289	1	0	0	0	0	0	0	1	0	11303	1623	56	5	5507	5	OTOF	2	26712165	Splice_Site	SNP	T	TCGA-IP-7968-01A-11D-2201-08	1666749	26712165	216487208	15	147465											
FOSL2	2355	broad.mit.edu	37	chr2	28627222	28627223	+	Frame_Shift_Ins	INS	-	-	C													gccgcaggaggagagatgagINScaggtacagctcagaccagt							TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:28627222_28627223insC	uc002rma.2	+	2	1160_1161	c.351_352insC	c.(349-354)GAGCAGfs	p.E117fs	FOSL2_uc010ymi.1_Frame_Shift_Ins_p.E78fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	117_118					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			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					GGAGAGATGAGCAGGTACAGCT	0.604													C	28627223	-	C	28627222	7	5	289	1	0	1	1	0	0	0	0	0	5988	962	34	0	357	0	FOSL2	2	28627222	Frame_Shift_Ins	INS	-	TCGA-IP-7968-01A-11D-2201-08	1915057	28627222	214572151	16	147466	787	2									
FOSL2	2355	broad.mit.edu	37	chr2	28627223	28627224	+	Frame_Shift_Ins	INS	-	-	C													ccgcaggaggagagatgagcINSaggtacagctcagaccagtg							TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:28627222_28627223G>GC	uc002rma.3	+	1	1160_1161	c.351_352G>GC	c.(349-354)gagcagfs	p.E117fs	FOSL2_uc021vfg.1_Frame_Shift_Ins_p.E92fs|FOSL2_uc010ymi.2_Frame_Shift_Ins_p.E78fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	117					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)					GGAGAGATGAGCAGGTACAGCT	0.604													C	28627224	-	C	28627223	7	5	289	1	0	1	1	0	0	0	0	0	5988	711	25	0	358	0	FOSL2	2	28627223	Frame_Shift_Ins	INS	-	TCGA-IP-7968-01A-11D-2201-08	1	28627223	214572150	17	147467	787	2									
ZFP36L2	678	broad.mit.edu	37	chr2	43452440	43452440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttttcgccgtacttgCacgtgccgctctcctcgaag	10	15	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:43452440C>T	uc002rsv.3	-	2	794	c.503G>A	c.(502-504)TGC>TAC	p.C168Y	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	168	C3H1-type 1.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCGTACTTGCACGTGCCGCT	0.637													T	43452440	C	T	43452440	3	4	289	1	0	0	0	0	1	0	0	0	17644	710	25	2	985	2	ZFP36L2	2	43452440	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	14825217	43452440	199746933	18	147468											
LONRF2	164832	broad.mit.edu	37	chr2	100938413	100938413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgccagcccggctagcatgGagcgaaagagctcggctgcc	15	14	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:100938413G>A	uc002tal.3	-	1	783	c.143C>T	c.(142-144)TCC>TTC	p.S48F		NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	48	TPR 1.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						GGCTAGCATGGAGCGAAAGAG	0.751													A	100938413	G	A	100938413	3	1	289	1	0	0	0	0	1	0	0	0	8895	1174	41	4	2169	4	LONRF2	2	100938413	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	57485973	100938413	142260960	19	147469											
TSN	7247	broad.mit.edu	37	chr2	122519067	122519067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttggaaacagaaacactaGtgactcgagaagcagttaca	9	7	0	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:122519067G>A	uc002tnl.2	+	4	575	c.340G>A	c.(340-342)GTG>ATG	p.V114M	TSN_uc002tnm.2_Missense_Mutation_p.V67M|TSN_uc010yze.1_Missense_Mutation_p.V114M|TSN_uc010flt.2_Intron	NM_004622	NP_004613	Q15631	TSN_HUMAN	translin	114					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			breast(2)|large_intestine(1)	3		Ovarian(717;0.0563)|Prostate(154;0.116)				AGAAACACTAGTGACTCGAGA	0.428													A	122519067	G	A	122519067	3	1	289	1	0	0	0	0	1	0	0	0	16626	1029	36	4	354	4	TSN	2	122519067	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	21580654	122519067	120680306	20	147470											
GALNT3	2591	broad.mit.edu	37	chr2	166606374	166606374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccttctggatgttgtgccGaatttcatgttgagcagagt	11	7	2	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:166606374G>A	uc010fph.1	-	10	2044	c.1657C>T	c.(1657-1659)CGG>TGG	p.R553W		NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	553	Ricin B-type lectin.|Lumenal (Potential).				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			central_nervous_system(2)|ovary(1)	3						ATGTTGTGCCGAATTTCATGT	0.403													A	166606374	G	A	166606374	3	1	289	1	0	0	0	0	1	0	0	0	6214	1057	37	1	252	1	GALNT3	2	166606374	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	44087307	166606374	76592999	21	147471											
SCN9A	6335	broad.mit.edu	37	chr2	167133552	167133552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcacatagcttgaccagCgacctccatacagtcccaca	7	15	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:167133552C>T	uc010fpl.2	-	16	3123	c.2782G>A	c.(2782-2784)GCT>ACT	p.A928T	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	939	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTTGACCAGCGACCTCCATA	0.478													T	167133552	C	T	167133552	3	4	289	1	0	0	0	0	1	0	0	0	13925	768	27	1	3199	1	SCN9A	2	167133552	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	527178	167133552	76065821	22	147472											
METTL8	79828	broad.mit.edu	37	chr2	172216943	172216943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgactaccttgctcttccAgaaggactcgcacagctgag	10	12	1	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:172216943A>G	uc010zdo.1	-	3	365	c.224T>C	c.(223-225)CTG>CCG	p.L75P	METTL8_uc002ugu.3_Missense_Mutation_p.L75P|METTL8_uc002ugv.3_Missense_Mutation_p.L75P|METTL8_uc002ugt.3_Missense_Mutation_p.L75P|METTL8_uc002ugs.3_Missense_Mutation_p.L25P|METTL8_uc010zdp.1_Missense_Mutation_p.L30P	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	methyltransferase like 8	75							methyltransferase activity			ovary(1)	1						TTGCTCTTCCAGAAGGACTCG	0.443													G	172216943	A	G	172216943	3	3	289	1	0	0	0	0	1	0	0	0	9507	188	7	3	1031	3	METTL8	2	172216943	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	5083391	172216943	70982430	23	147473											
HOXD10	3236	broad.mit.edu	37	chr2	176981726	176981726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacctgtggactgctcccGtctctggccaaaagagaagt	10	12	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:176981726G>A	uc002ukj.2	+	1	235	c.165G>A	c.(163-165)CCG>CCA	p.P55P		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	55						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGCTCCCGTCTCTGGCCA	0.488													A	176981726	G	A	176981726	2	1	289	1	0	0	0	0	0	0	0	1	7319	1132	40	1		1	HOXD10	2	176981726	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	4764783	176981726	66217647	24	147474											
PDE11A	50940	broad.mit.edu	37	chr2	178769850	178769850	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctttcatattctttccttGaggcagcaaagagctgagcg	9	9	3	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:178769850G>T	uc002ulq.2	-	3	1454	c.1136C>A	c.(1135-1137)TCA>TAA	p.S379*	PDE11A_uc002ulr.2_Nonsense_Mutation_p.S129*|PDE11A_uc002uls.1_Nonsense_Mutation_p.S21*|PDE11A_uc002ult.1_Nonsense_Mutation_p.S129*|PDE11A_uc002ulu.1_Nonsense_Mutation_p.S21*	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	379					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCTTTCCTTGAGGCAGCAAA	0.358									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				T	178769850	G	T	178769850	4	4	289	1	0	0	0	0	0	1	0	0	11631	1294	45	5	1737	5	PDE11A	2	178769850	Nonsense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	1788124	178769850	64429523	25	147475											
TTN	7273	broad.mit.edu	37	chr2	179548772	179548772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtttgagtttcagaacTttttcttctgggacagctct	9	7	4	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:179548772T>G	uc010zfg.1	-	130	29252	c.29028A>C	c.(29026-29028)AAA>AAC	p.K9676N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6337N|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10603							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCAGAACTTTTTCTTCTG	0.368													G	179548772	T	G	179548772	3	3	289	1	0	0	0	0	1	0	0	0	16732	1606	56	5	71689	5	TTN	2	179548772	Missense_Mutation	SNP	T	TCGA-IP-7968-01A-11D-2201-08	778922	179548772	63650601	26	147476											
SLC23A3	151295	broad.mit.edu	37	chr2	220032917	220032917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagacccacacatacCgaaaggagccggaagacagg	11	14	0	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr2:220032917C>T	uc010zks.1	-	6	909	c.798G>A	c.(796-798)TCG>TCA	p.S266S	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Silent_p.S274S|SLC23A3_uc010fwb.2_Missense_Mutation_p.R256Q|SLC23A3_uc002vjs.1_Missense_Mutation_p.G119S|SLC23A3_uc002vjt.1_Missense_Mutation_p.G126S	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	266	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		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)		CCACACATACCGAAAGGAGCC	0.587													T	220032917	C	T	220032917	2	4	289	1	0	0	0	0	0	0	0	1	14464	666	23	1		1	SLC23A3	2	220032917	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	40484145	220032917	23166456	27	147477											
SLC6A1	6529	broad.mit.edu	37	chr3	11060366	11060366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggccatttactacctGtacaactccttcaccacggt	6	15	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr3:11060366G>A	uc010hdq.2	+	5	864	c.453G>A	c.(451-453)CTG>CTA	p.L151L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	151	Extracellular (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTTACTACCTGTACAACTCCT	0.582													A	11060366	G	A	11060366	2	1	289	1	0	0	0	0	0	0	0	1	14673	1364	48	4		4	SLC6A1	3	11060366	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08		11060366	186962064	28	147478											
SEMA3B	7869	broad.mit.edu	37	chr3	50314117	50314117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcgctgagcgggggccgCgcagcgcaacgcactggtga	17	14	0	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr3:50314117C>T	uc003cyu.2	+	19	2472	c.2230C>T	c.(2230-2232)CGC>TGC	p.R744C	SEMA3B_uc003cyt.2_Missense_Mutation_p.R743C|SEMA3B_uc003cyv.2_Missense_Mutation_p.R631C|SEMA3B_uc003cyw.2_Missense_Mutation_p.R467C|SEMA3B_uc010hli.2_Missense_Mutation_p.R636C|SEMA3B_uc003cyx.2_Missense_Mutation_p.R630C|SEMA3B_uc003cyy.2_Missense_Mutation_p.R401C|SEMA3B_uc011bdo.1_Missense_Mutation_p.R401C|C3orf45_uc003cyz.2_5'Flank	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	744	Arg-rich (basic).				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGGGGGCCGCGCAGCGCAAC	0.692													T	50314117	C	T	50314117	3	4	289	1	0	0	0	0	1	0	0	0	14025	768	27	1	2295	1	SEMA3B	3	50314117	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	39253751	50314117	147708313	29	147479											
GLYCTK	132158	broad.mit.edu	37	chr3	52325055	52325055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggaccgcgatgcgctgCgggctgcactggccatccag	14	16	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr3:52325055C>T	uc003ddo.2	+	3	553	c.457C>T	c.(457-459)CGG>TGG	p.R153W	GLYCTK_uc003ddq.2_Missense_Mutation_p.R153W|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Missense_Mutation_p.R153W|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	153					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				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)		CGATGCGCTGCGGGCTGCACT	0.612													T	52325055	C	T	52325055	3	4	289	1	0	0	0	0	1	0	0	0	6482	759	27	1	463	1	GLYCTK	3	52325055	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	2010938	52325055	145697375	30	147480											
ERC2	26059	broad.mit.edu	37	chr3	56115004	56115004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccagtcgtaatctcagCgcatctacctgaaatcagga	7	12	4	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr3:56115004C>T	uc003dhr.1	-	7	1738	c.1482G>A	c.(1480-1482)GCG>GCA	p.A494A	ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	494	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAATCTCAGCGCATCTACCT	0.438													T	56115004	C	T	56115004	2	4	289	1	0	0	0	0	0	0	0	1	5211	755	27	1		1	ERC2	3	56115004	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	3789949	56115004	141907426	31	147481											
C3orf21	152002	broad.mit.edu	37	chr3	194790650	194790650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggtccccgaggtggcCgcggaagtggtacttgtcgg	17	11	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr3:194790650C>T	uc003fum.3	-	4	1084	c.976G>A	c.(976-978)GGC>AGC	p.G326S	C3orf21_uc003ful.2_Missense_Mutation_p.G123S|C3orf21_uc003fuk.2_Missense_Mutation_p.G120S	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	326						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		CCGAGGTGGCCGCGGAAGTGG	0.642													T	194790650	C	T	194790650	3	4	289	1	0	0	0	0	1	0	0	0	2214	652	23	1	209	1	C3orf21	3	194790650	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	138675646	194790650	3231780	32	147482											
RGS12	6002	broad.mit.edu	37	chr4	3418745	3418745	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgcactcccggactcgCagcaggtccccagcagcccg	12	19	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr4:3418745C>T	uc003ggw.2	+	8	3437	c.2533C>T	c.(2533-2535)CAG>TAG	p.Q845*	RGS12_uc010ics.1_Nonsense_Mutation_p.Q44*|RGS12_uc003ggv.2_Nonsense_Mutation_p.Q845*|RGS12_uc003ggy.1_Nonsense_Mutation_p.Q243*|RGS12_uc010ict.1_Nonsense_Mutation_p.Q197*|RGS12_uc003ggz.2_Nonsense_Mutation_p.Q197*|RGS12_uc010icu.1_Nonsense_Mutation_p.Q44*|RGS12_uc011bvs.1_Nonsense_Mutation_p.Q187*|RGS12_uc003gha.2_Nonsense_Mutation_p.Q187*|RGS12_uc010icv.2_Nonsense_Mutation_p.Q44*|RGS12_uc003ghb.2_Nonsense_Mutation_p.Q44*	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	845						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGGACTCGCAGCAGGTCCC	0.602													T	3418745	C	T	3418745	4	4	289	1	0	0	0	0	0	1	0	0	13295	711	25	2	2617	2	RGS12	4	3418745	Nonsense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08		3418745	187735531	33	147483											
BOD1L	259282	broad.mit.edu	37	chr4	13605585	13605585	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttctgtgtactatgtgctGaagaagaagcagtctctaat	9	8	2	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr4:13605585G>A	uc003gmz.1	-	10	3056	c.2939C>T	c.(2938-2940)TCA>TTA	p.S980L	BOD1L_uc010idr.1_Missense_Mutation_p.S317L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	980	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						ACTATGTGCTGAAGAAGAAGC	0.388													A	13605585	G	A	13605585	3	1	289	1	0	0	0	0	1	0	0	0	1483	1294	45	4	6284	4	BOD1L	4	13605585	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	10186840	13605585	177548691	34	147484											
MTTP	4547	broad.mit.edu	37	chr4	100503097	100503097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcattaaataatgaccggCtgtacaagctcacgtactcc	6	12	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr4:100503097C>A	uc003hvc.3	+	3	353	c.97C>A	c.(97-99)CTG>ATG	p.L33M	MTTP_uc011cej.1_Missense_Mutation_p.L60M|MTTP_uc003hvb.2_Missense_Mutation_p.L33M	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	33	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TAATGACCGGCTGTACAAGCT	0.463													A	100503097	C	A	100503097	3	1	289	1	0	0	0	0	1	0	0	0	9964	796	28	5	103	5	MTTP	4	100503097	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	86897512	100503097	90651179	35	147485											
SGMS2	166929	broad.mit.edu	37	chr4	108816777	108816777	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccagtgatcctacgaacaCttatgcaagacccgctgaac	7	14	0	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr4:108816777C>G	uc003hyl.3	+	3	623	c.68C>G	c.(67-69)ACT>AGT	p.T23S	uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.T23S|SGMS2_uc003hyo.2_Missense_Mutation_p.T23S	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	23					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CCTACGAACACTTATGCAAGA	0.423													G	108816777	C	G	108816777	3	3	289	1	0	0	0	0	1	0	0	0	14215	565	20	5	70	5	SGMS2	4	108816777	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	8313680	108816777	82337499	36	147486											
PCDH10	57575	broad.mit.edu	37	chr4	134071388	134071388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggagcaggaacatggCactttcgtggggaatatcgc	15	8	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr4:134071388C>T	uc003iha.2	+	1	919	c.93C>T	c.(91-93)GGC>GGT	p.G31G	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.G31G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	31	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGAACATGGCACTTTCGTGG	0.493													T	134071388	C	T	134071388	2	4	289	1	0	0	0	0	0	0	0	1	11507	697	25	2		2	PCDH10	4	134071388	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	25254611	134071388	57082888	37	147487											
PCDH10	57575	broad.mit.edu	37	chr4	134071615	134071615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccctggagctgttccAggtggagatcgaggtgctgg	16	10	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr4:134071615A>G	uc003iha.2	+	1	1146	c.320A>G	c.(319-321)CAG>CGG	p.Q107R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.Q107R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	107	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGCTGTTCCAGGTGGAGATC	0.572													G	134071615	A	G	134071615	3	3	289	1	0	0	0	0	1	0	0	0	11507	188	7	3	322	3	PCDH10	4	134071615	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	227	134071615	57082661	38	147488											
SPATA4	132851	broad.mit.edu	37	chr4	177113976	177113976	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atagtccgtgaaattcacaaAgtcatcctggatacttttaa	6	8	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr4:177113976A>T	uc003iuo.1	-	4	599	c.490T>A	c.(490-492)TTT>ATT	p.F164I		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	164					apoptosis|spermatogenesis						0		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)		AAATTCACAAAGTCATCCTGG	0.313													T	177113976	A	T	177113976	3	4	289	1	0	0	0	0	1	0	0	0	15009	72	3	5	439	5	SPATA4	4	177113976	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	43042361	177113976	14040300	39	147489											
RXFP3	51289	broad.mit.edu	37	chr5	33936956	33936956	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctggaggcggccaacacGagtggtaacgcgtcgctgca	14	12	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr5:33936956G>A	uc003jic.1	+	1	468	c.111G>A	c.(109-111)ACG>ACA	p.T37T		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	37	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CGGCCAACACGAGTGGTAACG	0.667													A	33936956	G	A	33936956	2	1	289	1	0	0	0	0	0	0	0	1	13761	1045	37	1		1	RXFP3	5	33936956	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08		33936956	146978304	40	147490											
TMEM161B	153396	broad.mit.edu	37	chr5	87501702	87501703	+	Frame_Shift_Ins	INS	-	-	A													gtcgtaatccaggaaatgtcINSaaaaaagccccaatgaatga					rs78741910		TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr5:87501702_87501703insA	uc003kjc.2	-	8	853_854	c.728_729insT	c.(727-729)TTGfs	p.L243fs	TMEM161B_uc011cty.1_Frame_Shift_Ins_p.L232fs|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Frame_Shift_Ins_p.L110fs|TMEM161B_uc011ctx.1_Frame_Shift_Ins_p.L61fs	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	243	Helical; (Potential).					integral to membrane				skin(2)	2		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)		CAGGAAATGTCAAAAAAGCCCC	0.342													A	87501703	-	A	87501702	7	5	289	1	0	1	1	0	0	0	0	0	16074	825	29	0	754	0	TMEM161B	5	87501702	Frame_Shift_Ins	INS	-	TCGA-IP-7968-01A-11D-2201-08	53564746	87501702	93413558	41	147491	788	2									
TMEM161B	153396	broad.mit.edu	37	chr5	87501703	87501704	+	Frame_Shift_Ins	INS	-	-	A													tcgtaatccaggaaatgtcaINSaaaaagccccaatgaatgaa					rs78741910		TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr5:87501702_87501703C>CA	uc003kjc.3	-	7	853_854	c.728_729G>TG	c.(727-729)ttgfs	p.L243fs	TMEM161B_uc011cty.2_Frame_Shift_Ins_p.L232fs|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Frame_Shift_Ins_p.L110fs|TMEM161B_uc011ctx.2_Frame_Shift_Ins_p.L61fs	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	243						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)		CAGGAAATGTCAAAAAAGCCCC	0.342													A	87501704	-	A	87501703	7	5	289	1	0	1	1	0	0	0	0	0	16074	131	5	0	755	0	TMEM161B	5	87501703	Frame_Shift_Ins	INS	-	TCGA-IP-7968-01A-11D-2201-08	1	87501703	93413557	42	147492	788	2									
ARSI	340075	broad.mit.edu	37	chr5	149677329	149677329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgttgtgcaggatctcCgtgcgtggtgaggcccggcc	15	11	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr5:149677329C>T	uc003lrv.2	-	2	1747	c.1158G>A	c.(1156-1158)ACG>ACA	p.T386T		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	386						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGATCTCCGTGCGTGGTG	0.652													T	149677329	C	T	149677329	2	4	289	1	0	0	0	0	0	0	0	1	994	639	23	1		1	ARSI	5	149677329	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	62175626	149677329	31237931	43	147493											
GFOD1	54438	broad.mit.edu	37	chr6	13365421	13365421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcctgcttgaactcgcCgggcacgttgaagttgaggg	14	10	0	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr6:13365421C>T	uc003nat.1	-	2	1392	c.727G>A	c.(727-729)GGC>AGC	p.G243S	GFOD1_uc003nas.1_Missense_Mutation_p.G140S	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	243						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TTGAACTCGCCGGGCACGTTG	0.657													T	13365421	C	T	13365421	3	4	289	1	0	0	0	0	1	0	0	0	6343	652	23	1	449	1	GFOD1	6	13365421	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08		13365421	157749646	44	147494											
C6orf153	88745	broad.mit.edu	37	chr6	42996916	42996916	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttgagtcgaaagaggCgacgaaatgcaggcaaggac	13	8	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr6:42996916C>T	uc003otp.1	+	7	738	c.730C>T	c.(730-732)CGA>TGA	p.R244*		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	244	Nuclear localization signal (Potential).				ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCGAAAGAGGCGACGAAATGC	0.502													T	42996916	C	T	42996916	4	4	289	1	0	0	0	0	0	1	0	0	2338	760	27	1	756	1	C6orf153	6	42996916	Nonsense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	29631495	42996916	128118151	45	147495											
DST	667	broad.mit.edu	37	chr6	56362226	56362226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccggtaaacctcccagcGgtttagatgccaacagatga	9	11	0	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr6:56362226G>A	uc003pdf.2	-	76	13845	c.13817C>T	c.(13816-13818)CCG>CTG	p.P4606L	DST_uc003pcz.3_Missense_Mutation_p.P4428L|DST_uc011dxj.1_Missense_Mutation_p.P4457L|DST_uc011dxk.1_Missense_Mutation_p.P4468L|DST_uc003pcy.3_Missense_Mutation_p.P4102L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6514	Spectrin 16.				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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTCCCAGCGGTTTAGATGC	0.463													A	56362226	G	A	56362226	3	1	289	1	0	0	0	0	1	0	0	0	4783	1116	39	1	3298	1	DST	6	56362226	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	13365310	56362226	114752841	46	147496											
DDX43	55510	broad.mit.edu	37	chr6	74115481	74115481	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaatcctacctgcacatttGatgacgcctttcaatgttat	5	12	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr6:74115481G>T	uc003pgw.2	+	6	1074	c.730G>T	c.(730-732)GAT>TAT	p.D244Y	DDX43_uc011dyn.1_RNA	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	244	Q motif.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						CTGCACATTTGATGACGCCTT	0.358													T	74115481	G	T	74115481	3	4	289	1	0	0	0	0	1	0	0	0	4363	1290	45	5	752	5	DDX43	6	74115481	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	17753255	74115481	96999586	47	147497											
TNRC18	84629	broad.mit.edu	37	chr7	5353457	5353457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggggtactggggacctcGtctgttgggttcccctcctc	14	12	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr7:5353457G>A	uc003soi.3	-	27	7414	c.7065C>T	c.(7063-7065)GAC>GAT	p.D2355D		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2355	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGGGACCTCGTCTGTTGGGT	0.627													A	5353457	G	A	5353457	2	1	289	1	0	0	0	0	0	0	0	1	16336	1136	40	1		1	TNRC18	7	5353457	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08		5353457	153785206	48	147498											
EPDR1	54749	broad.mit.edu	37	chr7	37988642	37988642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcggacagaaagtcagCtagatcctgtaagggttcaa	13	7	2	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr7:37988642C>T	uc003tfp.2	+	2	849	c.830C>T	c.(829-831)GCT>GTT	p.A277V	EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.A96V	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	157					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						AGAAAGTCAGCTAGATCCTGT	0.463													T	37988642	C	T	37988642	3	4	289	1	0	0	0	0	1	0	0	0	5163	797	28	2	836	2	EPDR1	7	37988642	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	32635185	37988642	121150021	49	147499											
ZNF655	79027	broad.mit.edu	37	chr7	99170715	99170715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaattcacaaagagatGccctgtaagtgtactgtatg	9	7	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr7:99170715G>T	uc003urh.2	+	3	1377	c.984G>T	c.(982-984)ATG>ATT	p.M328I	ZNF655_uc010lga.2_Missense_Mutation_p.M363I|ZNF655_uc010lgc.2_Missense_Mutation_p.M363I|ZNF655_uc003urj.2_Missense_Mutation_p.M328I|ZNF655_uc003urk.2_Missense_Mutation_p.M165I|ZNF655_uc010lgd.2_Missense_Mutation_p.M165I	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	328					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACAAAGAGATGCCCTGTAAGT	0.413													T	99170715	G	T	99170715	3	4	289	1	0	0	0	0	1	0	0	0	18065	1319	46	5	1521	5	ZNF655	7	99170715	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	61182073	99170715	59967948	50	147500											
CHRM2	1129	broad.mit.edu	37	chr7	136699730	136699730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttggtgaccattatcGggaacatcctagtcatggtt	10	8	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr7:136699730G>A	uc003vtf.1	+	4	741	c.118G>A	c.(118-120)GGG>AGG	p.G40R	CHRM2_uc003vtg.1_Missense_Mutation_p.G40R|CHRM2_uc003vtj.1_Missense_Mutation_p.G40R|CHRM2_uc003vtk.1_Missense_Mutation_p.G40R|CHRM2_uc003vtl.1_Missense_Mutation_p.G40R|CHRM2_uc003vtm.1_Missense_Mutation_p.G40R|CHRM2_uc003vti.1_Missense_Mutation_p.G40R|CHRM2_uc003vto.1_Missense_Mutation_p.G40R|CHRM2_uc003vtn.1_Missense_Mutation_p.G40R|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	40	Helical; Name=1; (By similarity).				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			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|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)	GACCATTATCGGGAACATCCT	0.448													A	136699730	G	A	136699730	3	1	289	1	0	0	0	0	1	0	0	0	3377	1116	39	1	120	1	CHRM2	7	136699730	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	37529015	136699730	22438933	51	147501											
OR2A2	442361	broad.mit.edu	37	chr7	143807591	143807591	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctccacagagcactccagAggaagaggtccatgagaacg	11	13	0	4			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr7:143807591A>T	uc011ktz.1	+	1	916	c.916A>T	c.(916-918)AGG>TGG	p.R306W		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					AGCACTCCAGAGGAAGAGGTC	0.443													T	143807591	A	T	143807591	3	4	289	1	0	0	0	0	1	0	0	0	10977	295	11	5	918	5	OR2A2	7	143807591	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	7107861	143807591	15331072	52	147502											
DPP6	1804	broad.mit.edu	37	chr7	154593099	154593099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctccaaggatggccgaaAgtttttcttcatcagagcca	9	10	4	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr7:154593099A>C	uc003wlk.2	+	13	1463	c.1334A>C	c.(1333-1335)AAG>ACG	p.K445T	DPP6_uc003wli.2_Missense_Mutation_p.K381T|DPP6_uc003wlm.2_Missense_Mutation_p.K383T|DPP6_uc011kvq.1_Missense_Mutation_p.K338T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	445	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			GATGGCCGAAAGTTTTTCTTC	0.483													C	154593099	A	C	154593099	3	2	289	1	0	0	0	0	1	0	0	0	4730	72	3	5	1500	5	DPP6	7	154593099	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	10785508	154593099	4545564	53	147503											
DPP6	1804	broad.mit.edu	37	chr7	154595588	154595588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagcccaacagcagcaaCgacaacatccagtccatcac	5	16	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr7:154595588C>T	uc003wlk.2	+	14	1551	c.1422C>T	c.(1420-1422)AAC>AAT	p.N474N	DPP6_uc003wli.2_Silent_p.N410N|DPP6_uc003wlm.2_Silent_p.N412N|DPP6_uc011kvq.1_Silent_p.N367N	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	474	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	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)			ACAGCAGCAACGACAACATCC	0.567													T	154595588	C	T	154595588	2	4	289	1	0	0	0	0	0	0	0	1	4730	535	19	1		1	DPP6	7	154595588	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	2489	154595588	4543075	54	147504											
ZNF596	169270	broad.mit.edu	37	chr8	195985	195985	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatcttctgtgcttaaaCgacatgagagaattcacact	7	9	3	3	rs140067348	byFrequency	TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr8:195985C>T	uc003wot.2	+	6	1426	c.1138C>T	c.(1138-1140)CGA>TGA	p.R380*	ZNF596_uc003wou.2_Nonsense_Mutation_p.R279*|ZNF596_uc003wov.2_Nonsense_Mutation_p.R380*|ZNF596_uc003wow.2_Nonsense_Mutation_p.R380*	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	380	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGTGCTTAAACGACATGAGAG	0.433													T	195985	C	T	195985	4	4	289	1	0	0	0	0	0	1	0	0	18023	528	19	1	1156	1	ZNF596	8	195985	Nonsense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08		195985	146168037	55	147505											
KCNU1	157855	broad.mit.edu	37	chr8	36788588	36788588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggcagatagctgcacGtcgctcttgtctggaagaaa	14	8	2	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr8:36788588G>A	uc010lvw.2	+	25	2943	c.2856G>A	c.(2854-2856)ACG>ACA	p.T952T	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	952	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATAGCTGCACGTCGCTCTTGT	0.448													A	36788588	G	A	36788588	2	1	289	1	0	0	0	0	0	0	0	1	8093	1132	40	1		1	KCNU1	8	36788588	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	36592603	36788588	109575434	56	147506											
ADCY8	114	broad.mit.edu	37	chr8	131955619	131955619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccagtcgatcaaatctgGcaaagagctcgttgagcatc	12	10	2	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr8:131955619G>T	uc003ytd.3	-	4	1587	c.1331C>A	c.(1330-1332)GCC>GAC	p.A444D	ADCY8_uc010mds.2_Missense_Mutation_p.A444D	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	444	Cytoplasmic (Potential).				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			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCAAATCTGGCAAAGAGCTC	0.448										HNSCC(32;0.087)			T	131955619	G	T	131955619	3	4	289	1	0	0	0	0	1	0	0	0	300	1203	42	5	2484	5	ADCY8	8	131955619	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	95167031	131955619	14408403	57	147507											
ZFAT	57623	broad.mit.edu	37	chr8	135614315	135614315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatttccccaggggcctcCggctccttccggccctcctc	10	20	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr8:135614315C>T	uc003yup.2	-	6	1822	c.1647G>A	c.(1645-1647)CCG>CCA	p.P549P	ZFAT_uc003yun.2_Silent_p.P537P|ZFAT_uc003yuo.2_Silent_p.P537P|ZFAT_uc010meh.2_Silent_p.P537P|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.P537P|ZFAT_uc010mej.2_Silent_p.P487P|ZFAT_uc003yur.2_Silent_p.P537P	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	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)			CAGGGGCCTCCGGCTCCTTCC	0.652													T	135614315	C	T	135614315	2	4	289	1	0	0	0	0	0	0	0	1	17629	639	23	1		1	ZFAT	8	135614315	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	3658696	135614315	10749707	58	147508											
RCL1	10171	broad.mit.edu	37	chr9	4849472	4849472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtagactcgaccaaccAaagcctggcgctactactca	8	14	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr9:4849472A>G	uc003zis.2	+	8	1151	c.893A>G	c.(892-894)CAA>CGA	p.Q298R	RCL1_uc003zit.2_Missense_Mutation_p.Q140R|RCL1_uc010mhk.1_Missense_Mutation_p.Q140R|RCL1_uc010mhl.1_Missense_Mutation_p.Q112R	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	298					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TCGACCAACCAAAGCCTGGCG	0.433													G	4849472	A	G	4849472	3	3	289	1	0	0	0	0	1	0	0	0	13178	130	5	3	923	3	RCL1	9	4849472	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08		4849472	136363959	59	147509											
GALNT12	79695	broad.mit.edu	37	chr9	101608289	101608289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtcccagaaagaaataCgctataacacccaccagcct	5	15	0	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr9:101608289C>T	uc004ayz.2	+	9	1489	c.1489C>T	c.(1489-1491)CGC>TGC	p.R497C		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	497	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				GAAAGAAATACGCTATAACAC	0.473													T	101608289	C	T	101608289	3	4	289	1	0	0	0	0	1	0	0	0	6210	536	19	1	1523	1	GALNT12	9	101608289	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	96758817	101608289	39605142	60	147510											
TTLL11	158135	broad.mit.edu	37	chr9	124855535	124855535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgctgccacgcgttcCccgcccgagcccgttgccat	11	20	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr9:124855535C>T	uc004blt.1	-	1	351	c.163G>A	c.(163-165)GGA>AGA	p.G55R	TTLL11_uc011lyl.1_Missense_Mutation_p.G55R|TTLL11_uc004blr.2_RNA|TTLL11_uc004blu.1_Missense_Mutation_p.G55R	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	55					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						ccACGCGTTCCCCGCCCGAGC	0.463													T	124855535	C	T	124855535	3	4	289	1	0	0	0	0	1	0	0	0	16721	632	22	4	2353	4	TTLL11	9	124855535	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	23247246	124855535	16357896	61	147511											
FAM129B	64855	broad.mit.edu	37	chr9	130271314	130271314	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctggacacatcaaatcGctgctgcagcccgtccagtc	10	15	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr9:130271314G>A	uc004brh.2	-	10	1460	c.1258C>T	c.(1258-1260)CGA>TGA	p.R420*	FAM129B_uc004bri.2_Nonsense_Mutation_p.R407*|FAM129B_uc004brj.3_Nonsense_Mutation_p.R420*	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	420							protein binding				0						ACATCAAATCGCTGCTGCAGC	0.617													A	130271314	G	A	130271314	4	1	289	1	0	0	0	0	0	1	0	0	5437	1095	38	1	1002	1	FAM129B	9	130271314	Nonsense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	5415779	130271314	10942117	62	147512											
NTNG2	84628	broad.mit.edu	37	chr9	135073611	135073611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaagtccctggacaacGggcgcacctggcagccctac	13	14	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr9:135073611G>A	uc004cbh.2	+	3	1248	c.472G>A	c.(472-474)GGG>AGG	p.G158R		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	158	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTGGACAACGGGCGCACCTG	0.652													A	135073611	G	A	135073611	3	1	289	1	0	0	0	0	1	0	0	0	10705	1116	39	1	478	1	NTNG2	9	135073611	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	4802297	135073611	6139820	63	147513											
PPIF	10105	broad.mit.edu	37	chr10	81107467	81107467	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctggacgtggacgccAacgggaagccgctcggccgc	15	14	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr10:81107467A>T	uc001kai.2	+	1	248	c.163A>T	c.(163-165)AAC>TAC	p.N55Y	PPIF_uc001kaj.2_Missense_Mutation_p.N55Y	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	55	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			skin(1)	1	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	CGTGGACGCCAACGGGAAGCC	0.522													T	81107467	A	T	81107467	3	4	289	1	0	0	0	0	1	0	0	0	12323	130	5	5	165	5	PPIF	10	81107467	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08		81107467	54427280	64	147514											
HSPA12A	259217	broad.mit.edu	37	chr10	118434842	118434842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaaagcagcctgcaccGcctgctgcagcaggggcgcc	12	18	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr10:118434842G>A	uc001lct.2	-	12	1583	c.1478C>T	c.(1477-1479)GCG>GTG	p.A493V	HSPA12A_uc001lcu.2_Missense_Mutation_p.A410V	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	493							ATP binding			ovary(1)	1				all cancers(201;0.0158)		AGCCTGCACCGCCTGCTGCAG	0.647													A	118434842	G	A	118434842	3	1	289	1	0	0	0	0	1	0	0	0	7404	1087	38	1	553	1	HSPA12A	10	118434842	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	37327375	118434842	17099905	65	147515											
DPYSL4	10570	broad.mit.edu	37	chr10	134006217	134006217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagaccattgacgcccacGgcctgatggtccttcctggt	10	14	1	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr10:134006217G>A	uc009ybb.2	+	3	338	c.184G>A	c.(184-186)GGC>AGC	p.G62S		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	62					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		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)		TGACGCCCACGGCCTGATGGT	0.582													A	134006217	G	A	134006217	3	1	289	1	0	0	0	0	1	0	0	0	4749	1116	39	1	194	1	DPYSL4	10	134006217	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	15571375	134006217	1528530	66	147516											
OR51B5	282763	broad.mit.edu	37	chr11	5364380	5364381	+	Nonsense_Mutation	DNP	GC	GC	TT													gaggtatatctaagagggttGcagatggcaataaaacggtc							TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr11:5364380_5364381GC>TT	uc001map.1	-	1	374_375	c.374_375GC>AA	c.(373-375)TGC>TAA	p.C125*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Nonsense_Mutation_p.C125*	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		TAAGAGGGTTGCAGATGGCAAT	0.47													TT	5364381	GC	TT	5364380	4	4	289	1	0	0	0	0	0	1	0	0	11091	1311	46	5	567	5	OR51B5	11	5364380	Nonsense_Mutation	DNP	GC	TCGA-IP-7968-01A-11D-2201-08		5364380	129642136	67	147517											
CD82	3732	broad.mit.edu	37	chr11	44626715	44626715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgccgtcaacgaggtcCgctgcctgctggggctggtg	17	13	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr11:44626715C>T	uc001myc.2	+	5	492	c.244C>T	c.(244-246)CGC>TGC	p.R82C	CD82_uc001myd.2_Missense_Mutation_p.R82C	NM_002231	NP_002222	P27701	CD82_HUMAN	CD82 antigen isoform 1	82	Cytoplasmic (Potential).					integral to plasma membrane	protein binding			ovary(1)	1						CAACGAGGTCCGCTGCCTGCT	0.652													T	44626715	C	T	44626715	3	4	289	1	0	0	0	0	1	0	0	0	3040	652	23	1	254	1	CD82	11	44626715	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	39262335	44626715	90379801	68	147518											
RSF1	51773	broad.mit.edu	37	chr11	77412319	77412319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccaacagtacttgtaCtctggcattctaccacttct	6	14	3	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr11:77412319C>T	uc001oyn.2	-	6	2075	c.1955G>A	c.(1954-1956)AGT>AAT	p.S652N	RSF1_uc001oym.2_Missense_Mutation_p.S400N	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	652					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			ovary(2)|central_nervous_system(2)	4	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)			AGTACTTGTACTCTGGCATTC	0.428													T	77412319	C	T	77412319	3	4	289	1	0	0	0	0	1	0	0	0	13699	565	20	4	2414	4	RSF1	11	77412319	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	32785604	77412319	57594197	69	147519											
GRIA4	2893	broad.mit.edu	37	chr11	105732912	105732912	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatagactgtgagatagagaGacttcaaaacatattagaac	8	5	1	5			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr11:105732912G>C	uc001pix.2	+	5	1096	c.650G>C	c.(649-651)AGA>ACA	p.R217T	GRIA4_uc001piu.1_Missense_Mutation_p.R217T|GRIA4_uc001piw.2_Missense_Mutation_p.R217T|GRIA4_uc001piv.2_Missense_Mutation_p.R217T|GRIA4_uc009yxk.1_Missense_Mutation_p.R217T	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	217	Extracellular (Potential).				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			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		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)	GAGATAGAGAGACTTCAAAAC	0.328													C	105732912	G	C	105732912	3	2	289	1	0	0	0	0	1	0	0	0	6770	942	33	5	664	5	GRIA4	11	105732912	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	28320593	105732912	29273604	70	147520											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6440068	6440068	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctggggtaggcacaacttCgtgcactccaggcttttctt	10	11	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:6440068C>T	uc001qnu.2	-	6	857	c.576G>A	c.(574-576)ACG>ACA	p.T192T	TNFRSF1A_uc001qnt.2_Silent_p.T84T|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Silent_p.T84T|TNFRSF1A_uc009zek.2_Silent_p.T149T	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	192	TNFR-Cys 4.|Extracellular (Potential).				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			lung(2)|skin(1)	3						GGCACAACTTCGTGCACTCCA	0.507													T	6440068	C	T	6440068	2	4	289	1	0	0	0	0	0	0	0	1	16290	871	31	1		1	TNFRSF1A	12	6440068	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08		6440068	127411827	71	147521											
SOX5	6660	broad.mit.edu	37	chr12	23793813	23793813	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtagttgggatcagcTgaacagggtaagggtcacct	14	8	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:23793813T>A	uc001rfw.2	-	8	1052	c.950A>T	c.(949-951)CAG>CTG	p.Q317L	SOX5_uc001rfx.2_Missense_Mutation_p.Q304L|SOX5_uc001rfy.2_Missense_Mutation_p.Q304L|SOX5_uc010siv.1_Missense_Mutation_p.Q304L|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.Q269L	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	317					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TGGGATCAGCTGAACAGGGTA	0.483													A	23793813	T	A	23793813	3	1	289	1	0	0	0	0	1	0	0	0	14954	1580	55	5	1383	5	SOX5	12	23793813	Missense_Mutation	SNP	T	TCGA-IP-7968-01A-11D-2201-08	17353745	23793813	110058082	72	147522											
TUBA1A	7846	broad.mit.edu	37	chr12	49579682	49579682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccataatcaactgagagaCgttccatgagcagcgaggtg	12	9	1	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:49579682C>T	uc009zlf.2	-	4	739	c.467G>A	c.(466-468)CGT>CAT	p.R156H	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.R156H|TUBA1A_uc001rtq.2_Missense_Mutation_p.R3H|TUBA1A_uc001rtr.2_Missense_Mutation_p.R3H|TUBA1A_uc009zlg.2_Missense_Mutation_p.R3H	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	156					'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				0						AACTGAGAGACGTTCCATGAG	0.537													T	49579682	C	T	49579682	3	4	289	1	0	0	0	0	1	0	0	0	16740	536	19	1	892	1	TUBA1A	12	49579682	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	25785869	49579682	84272213	73	147523											
NEUROD4	58158	broad.mit.edu	37	chr12	55421022	55421022	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaacttctccttgaagCaagatgggtctcctgaccta	11	10	2	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:55421022C>T	uc001sgp.3	+	2	1177	c.799C>T	c.(799-801)CAA>TAA	p.Q267*		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	267					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						CTCCTTGAAGCAAGATGGGTC	0.512													T	55421022	C	T	55421022	4	4	289	1	0	0	0	0	0	1	0	0	10350	711	25	2	801	2	NEUROD4	12	55421022	Nonsense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	5841340	55421022	78430873	74	147524											
GLS2	27165	broad.mit.edu	37	chr12	56874168	56874168	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatgccactttctgatgaAtcactgtttgggggcagaga	12	8	2	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:56874168A>G	uc001slj.2	-	2	465	c.186T>C	c.(184-186)GAT>GAC	p.D62D	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_5'UTR|GLS2_uc009zot.2_5'UTR	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	62					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTGATGAATCACTGTTTG	0.488													G	56874168	A	G	56874168	2	3	289	1	0	0	0	0	0	0	0	1	6464	98	4	3		3	GLS2	12	56874168	Silent	SNP	A	TCGA-IP-7968-01A-11D-2201-08	1453146	56874168	76977727	75	147525											
SRGAP1	57522	broad.mit.edu	37	chr12	64456870	64456870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagatgtaccctgctgcGttctgtccaccaatgaagtt	10	10	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:64456870G>A	uc010ssp.1	+	7	1031	c.975G>A	c.(973-975)GCG>GCA	p.A325A	SRGAP1_uc001srt.2_Silent_p.A325A|SRGAP1_uc001srv.2_Silent_p.A285A	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	325					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACCCTGCTGCGTTCTGTCCAC	0.393													A	64456870	G	A	64456870	2	1	289	1	0	0	0	0	0	0	0	1	15144	1132	40	1		1	SRGAP1	12	64456870	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	7582702	64456870	69395025	76	147526											
IL26	55801	broad.mit.edu	37	chr12	68618976	68618976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaagtcctccacaaagcGtattttcttgcagccttgca	7	11	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:68618976G>A	uc001stx.1	-	3	351	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	106					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TCCACAAAGCGTATTTTCTTG	0.378													A	68618976	G	A	68618976	3	1	289	1	0	0	0	0	1	0	0	0	7679	1145	40	1	211	1	IL26	12	68618976	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	4162106	68618976	65232919	77	147527											
PLEKHG7	440107	broad.mit.edu	37	chr12	93135306	93135306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtctctttggcatcatcAaggactatgtagacgcttct	8	10	4	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:93135306A>G	uc001tcj.2	+	4	369	c.139A>G	c.(139-141)AAG>GAG	p.K47E		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	47	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						TGGCATCATCAAGGACTATGT	0.418													G	93135306	A	G	93135306	3	3	289	1	0	0	0	0	1	0	0	0	12075	131	5	3	149	3	PLEKHG7	12	93135306	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	24516330	93135306	40716589	78	147528											
PRDM4	11108	broad.mit.edu	37	chr12	108145867	108145867	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaacatttccattggactGatagggatctagtgctgaag	10	8	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr12:108145867G>A	uc001tmp.2	-	5	888	c.451C>T	c.(451-453)CAG>TAG	p.Q151*	PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	151					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			breast(1)|skin(1)	2						CCATTGGACTGATAGGGATCT	0.438													A	108145867	G	A	108145867	4	1	289	1	0	0	0	0	0	1	0	0	12459	1299	45	4	1986	4	PRDM4	12	108145867	Nonsense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	15010561	108145867	25706028	79	147529											
TRPC4	7223	broad.mit.edu	37	chr13	38357362	38357362	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccttttccacagcattcaAgtaggctttttctgatggcg	8	11	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr13:38357362A>C	uc001uws.2	-	2	344	c.109T>G	c.(109-111)TTG>GTG	p.L37V	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L37V|TRPC4_uc010tey.1_Missense_Mutation_p.L37V|TRPC4_uc010abw.2_Missense_Mutation_p.L37V|TRPC4_uc010abx.2_Missense_Mutation_p.L37V|TRPC4_uc010aby.2_Missense_Mutation_p.L37V	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	37	Cytoplasmic (Potential).|ANK 1.				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			ovary(3)|skin(2)|breast(1)	6				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)		ACAGCATTCAAGTAGGCTTTT	0.328													C	38357362	A	C	38357362	3	2	289	1	0	0	0	0	1	0	0	0	16577	69	3	5	2879	5	TRPC4	13	38357362	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08		38357362	76812516	80	147530											
DYNC1H1	1778	broad.mit.edu	37	chr14	102516478	102516478	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgccatctcaaccgccctTcccctgacgcagctgcgctg	8	18	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr14:102516478T>C	uc001yks.2	+	77	13919	c.13755T>C	c.(13753-13755)CTT>CTC	p.L4585L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4585					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			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAACCGCCCTTCCCCTGACGC	0.572													C	102516478	T	C	102516478	2	2	289	1	0	0	0	0	0	0	0	1	4841	1770	62	3		3	DYNC1H1	14	102516478	Silent	SNP	T	TCGA-IP-7968-01A-11D-2201-08		102516478	4833062	81	147531											
MTA1	9112	broad.mit.edu	37	chr14	105931130	105931130	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcccggcgcctgtgccgtgaGatcctgcgcccgtggcacgc	15	17	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr14:105931130G>T	uc001yqx.2	+	15	1651	c.1464G>T	c.(1462-1464)GAG>GAT	p.E488D	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.E249D	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	488					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		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)		TGTGCCGTGAGATCCTGCGCC	0.667													T	105931130	G	T	105931130	3	4	289	1	0	0	0	0	1	0	0	0	9908	933	33	5	1522	5	MTA1	14	105931130	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	3414652	105931130	1418410	82	147532											
MKRN3	7681	broad.mit.edu	37	chr15	23811866	23811866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatggacaaggtgtgtggcAtctgcatggaggttgtctat	15	5	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr15:23811866A>T	uc001ywh.3	+	1	1413	c.937A>T	c.(937-939)ATC>TTC	p.I313F	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.I313F	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	313	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		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)		GGTGTGTGGCATCTGCATGGA	0.502													T	23811866	A	T	23811866	3	4	289	1	0	0	0	0	1	0	0	0	9608	217	8	5	939	5	MKRN3	15	23811866	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08		23811866	78719526	83	147533											
WDR72	256764	broad.mit.edu	37	chr15	53992012	53992012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattaaaaaattctcaaccGggtgccattttatcatcctc	4	11	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr15:53992012G>A	uc002acj.2	-	13	1742	c.1700C>T	c.(1699-1701)CCG>CTG	p.P567L	WDR72_uc010bfi.1_Missense_Mutation_p.P567L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	567	WD 8.									lung(1)|skin(1)	2				all cancers(107;0.0511)		ATTCTCAACCGGGTGCCATTT	0.423													A	53992012	G	A	53992012	3	1	289	1	0	0	0	0	1	0	0	0	17319	1116	39	1	1640	1	WDR72	15	53992012	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	30180146	53992012	48539380	84	147534											
LBXCOR1	390598	broad.mit.edu	37	chr15	68118581	68118581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtacagctggagattctgCgtcgggccggggccatgccc	16	13	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr15:68118581C>T	uc002aqy.1	+	2	388	c.388C>T	c.(388-390)CGT>TGT	p.R130C		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	139					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GGAGATTCTGCGTCGGGCCGG	0.632													T	68118581	C	T	68118581	3	4	289	1	0	0	0	0	1	0	0	0	8655	768	27	1	394	1	LBXCOR1	15	68118581	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	14126569	68118581	34412811	85	147535											
CYP1A2	1544	broad.mit.edu	37	chr15	75042262	75042262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccctggggaagaacccGcacctggcactgtcaaggat	12	13	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr15:75042262G>A	uc002ayr.1	+	2	247	c.183G>A	c.(181-183)CCG>CCA	p.P61P		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	61					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			ovary(3)|breast(1)	4					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)	GGAAGAACCCGCACCTGGCAC	0.647													A	75042262	G	A	75042262	2	1	289	1	0	0	0	0	0	0	0	1	4150	1074	38	1		1	CYP1A2	15	75042262	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	6923681	75042262	27489130	86	147536											
FES	2242	broad.mit.edu	37	chr15	91433133	91433133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcaggcggcaggagatGgttacgcagctgcaacagga	16	8	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr15:91433133G>A	uc002bpv.2	+	8	1086	c.990G>A	c.(988-990)ATG>ATA	p.M330I	FES_uc010uqj.1_Missense_Mutation_p.M272I|FES_uc010uqk.1_Missense_Mutation_p.M312I|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.M272I|FES_uc002bpx.2_Missense_Mutation_p.M330I|FES_uc002bpy.2_Missense_Mutation_p.M272I	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	330	Potential.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCAGGAGATGGTTACGCAGC	0.637													A	91433133	G	A	91433133	3	1	289	1	0	0	0	0	1	0	0	0	5820	1348	47	4	1016	4	FES	15	91433133	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	16390871	91433133	11098259	87	147537											
FES	2242	broad.mit.edu	37	chr15	91433164	91433164	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcaacaggagctccggaatGaagaggagaacacccacccc	11	13	0	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr15:91433164G>T	uc002bpv.2	+	8	1117	c.1021G>T	c.(1021-1023)GAA>TAA	p.E341*	FES_uc010uqj.1_Nonsense_Mutation_p.E283*|FES_uc010uqk.1_Nonsense_Mutation_p.E323*|FES_uc002bpw.2_RNA|FES_uc010bny.2_Nonsense_Mutation_p.E283*|FES_uc002bpx.2_Nonsense_Mutation_p.E341*|FES_uc002bpy.2_Nonsense_Mutation_p.E283*	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	341	Potential.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCCGGAATGAAGAGGAGAA	0.637													T	91433164	G	T	91433164	4	4	289	1	0	0	0	0	0	1	0	0	5820	1291	45	5	1047	5	FES	15	91433164	Nonsense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	31	91433164	11098228	88	147538											
TSC2	7249	broad.mit.edu	37	chr16	2134515	2134515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggggaaagtgctgcctggtCggcctcgggcgaagacagtc	17	11	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:2134515C>T	uc002con.2	+	34	4398	c.4292C>T	c.(4291-4293)TCG>TTG	p.S1431L	TSC2_uc010bsd.2_Missense_Mutation_p.S1408L|TSC2_uc002coo.2_Missense_Mutation_p.S1364L|TSC2_uc010uvv.1_Missense_Mutation_p.S1328L|TSC2_uc010uvw.1_Missense_Mutation_p.S1316L|TSC2_uc002cop.2_Missense_Mutation_p.S1187L|TSC2_uc002coq.2_Missense_Mutation_p.S206L|TSC2_uc002cor.2_Missense_Mutation_p.S132L	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1431					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			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GCTGCCTGGTCGGCCTCGGGC	0.711			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				T	2134515	C	T	2134515	3	4	289	1	0	0	0	0	1	0	0	0	16603	893	31	1	4422	1	TSC2	16	2134515	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08		2134515	88220238	89	147539											
TAOK2	9344	broad.mit.edu	37	chr16	29994174	29994174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagatgaagaagatcctgttCcaagaggcacccaacggccc	10	12	0	5			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:29994174C>A	uc002dva.1	+	11	1734	c.951C>A	c.(949-951)TTC>TTA	p.F317L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.F317L|TAOK2_uc002dvc.1_Missense_Mutation_p.F317L|TAOK2_uc010bzm.1_Missense_Mutation_p.F317L|TAOK2_uc002dvd.1_Missense_Mutation_p.F144L	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	317					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			ovary(1)	1						AGATCCTGTTCCAAGAGGCAC	0.607													A	29994174	C	A	29994174	3	1	289	1	0	0	0	0	1	0	0	0	15545	854	30	5	989	5	TAOK2	16	29994174	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	27859659	29994174	60360579	90	147540											
CORO1A	11151	broad.mit.edu	37	chr16	30198029	30198029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgccagtggctccgaggaCtgcacagtcatggtgagtgg	15	9	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:30198029C>T	uc002dww.2	+	3	431	c.309C>T	c.(307-309)GAC>GAT	p.D103D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Silent_p.D103D|CORO1A_uc010bzq.2_Silent_p.D103D|CORO1A_uc010bzr.2_Silent_p.D103D|CORO1A_uc002dwx.2_5'UTR|CORO1A_uc002dwy.1_5'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	103	WD 2.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						GCTCCGAGGACTGCACAGTCA	0.612													T	30198029	C	T	30198029	2	4	289	1	0	0	0	0	0	0	0	1	3753	564	20	4		4	CORO1A	16	30198029	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08	203855	30198029	60156724	91	147541											
ZNF689	115509	broad.mit.edu	37	chr16	30615983	30615983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggtagggcttctctcCggtgtgcaagagctggtgct	17	9	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:30615983C>T	uc002dyx.2	-	3	1425	c.1105G>A	c.(1105-1107)GGA>AGA	p.G369R	ZNF689_uc010bzy.2_Silent_p.P24P	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GGCTTCTCTCCGGTGTGCAAG	0.682													T	30615983	C	T	30615983	3	4	289	1	0	0	0	0	1	0	0	0	18091	661	23	1	401	1	ZNF689	16	30615983	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	417954	30615983	59738770	92	147542											
PYCARD	29108	broad.mit.edu	37	chr16	31213514	31213514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggatcccagctggcgcGgctccagagcctggaaggat	15	13	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:31213514G>A	uc010cak.2	-	2	525	c.285C>T	c.(283-285)GCC>GCT	p.A95A	PYCARD_uc002ebm.2_Intron	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing isoform a	95					induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding				0						CAGCTGGCGCGGCTCCAGAGC	0.697													A	31213514	G	A	31213514	2	1	289	1	0	0	0	0	0	0	0	1	12854	1103	39	1		1	PYCARD	16	31213514	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	597531	31213514	59141239	93	147543											
CDH11	1009	broad.mit.edu	37	chr16	65016158	65016158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgatgtgcacgttggctGcctctaccttcaagctatag	11	11	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:65016158G>T	uc002eoi.2	-	8	1480	c.1046C>A	c.(1045-1047)GCA>GAA	p.A349E	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.A349E|CDH11_uc010vin.1_Missense_Mutation_p.A223E|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	349	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CACGTTGGCTGCCTCTACCTT	0.453			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	65016158	G	T	65016158	3	4	289	1	0	0	0	0	1	0	0	0	3097	1319	46	5	1368	5	CDH11	16	65016158	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	33802644	65016158	25338595	94	147544											
WDR59	79726	broad.mit.edu	37	chr16	74943527	74943527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagttggggagtgcaaacGggttgctggaagcgctgtct	17	7	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:74943527G>A	uc002fdh.1	-	16	1616	c.1514C>T	c.(1513-1515)CCG>CTG	p.P505L	WDR59_uc002fdi.2_Missense_Mutation_p.P505L|WDR59_uc002fdg.1_Missense_Mutation_p.P97L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	505										ovary(1)|breast(1)	2						GAGTGCAAACGGGTTGCTGGA	0.502													A	74943527	G	A	74943527	3	1	289	1	0	0	0	0	1	0	0	0	17305	1116	39	1	1454	1	WDR59	16	74943527	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	9927369	74943527	15411226	95	147545											
C16orf3	750	broad.mit.edu	37	chr16	90095731	90095731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctggagactcctgccccGcagcagaggacagtttcatc	11	14	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr16:90095731G>A	uc002fqk.1	-	1	579	c.20C>T	c.(19-21)GCG>GTG	p.A7V	GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	NM_001214	NP_001205	O95177	CP003_HUMAN	hypothetical protein LOC750	7											0		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	0.184													A	90095731	G	A	90095731	3	1	289	1	0	0	0	0	1	0	0	0	1812	1087	38	1	337	1	C16orf3	16	90095731	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	15152204	90095731	259022	96	147546											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2934234	2934234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgccaaaagcagaaactCcccgagatcgaacctgaaat	8	11	0	4			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr17:2934234C>T	uc010ckd.2	+	23	2216	c.2126C>T	c.(2125-2127)TCC>TTC	p.S709F	RAP1GAP2_uc010cke.2_Missense_Mutation_p.S694F	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	709	Ser-rich.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						AGCAGAAACTCCCCGAGATCG	0.572													T	2934234	C	T	2934234	3	4	289	1	0	0	0	0	1	0	0	0	13038	855	30	4	2216	4	RAP1GAP2	17	2934234	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08		2934234	78260976	97	147547											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	8	15	5	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr17:7574003G>A	uc002gim.2	-	10	1218	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	342	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TTCAGCTCTCGGAACATCTCG	0.498		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			A	7574003	G	A	7574003	4	1	289	1	0	0	0	0	0	1	0	0	16378	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	4639769	7574003	73621207	98	147548											
C17orf42	79736	broad.mit.edu	37	chr17	29226358	29226358	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccttcagtatagaatcgaaGagaaactgcttcactagctc	8	10	2	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr17:29226358G>C	uc002hfu.2	-	4	982	c.912C>G	c.(910-912)CTC>CTG	p.L304L	C17orf42_uc002hfv.2_RNA	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	304					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TAGAATCGAAGAGAAACTGCT	0.428													C	29226358	G	C	29226358	2	2	289	1	0	0	0	0	0	0	0	1	1856	929	33	5		5	C17orf42	17	29226358	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	21652355	29226358	51968852	99	147549											
KRT23	25984	broad.mit.edu	37	chr17	39081631	39081631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctctccctccaggagccGtcggtacgtggtgatttcct	10	14	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr17:39081631G>A	uc002hvm.1	-	7	1706	c.1117C>T	c.(1117-1119)CGG>TGG	p.R373W	KRT23_uc010wfl.1_Missense_Mutation_p.R236W|KRT23_uc010cxf.1_Missense_Mutation_p.R160W|KRT23_uc010cxg.2_Missense_Mutation_p.R373W	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	373	Rod.|Coil 2.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				TCCAGGAGCCGTCGGTACGTG	0.562													A	39081631	G	A	39081631	3	1	289	1	0	0	0	0	1	0	0	0	8460	1144	40	1	163	1	KRT23	17	39081631	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	9855273	39081631	42113579	100	147550											
KRT40	125115	broad.mit.edu	37	chr17	39135121	39135121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccagccgggccttcacGtccaggagcacctggtactc	10	18	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr17:39135121G>A	uc010cxh.1	-	8	1292	c.1131C>T	c.(1129-1131)GAC>GAT	p.D377D	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	377	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				GGGCCTTCACGTCCAGGAGCA	0.587													A	39135121	G	A	39135121	2	1	289	1	0	0	0	0	0	0	0	1	8478	1136	40	1		1	KRT40	17	39135121	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	53490	39135121	42060089	101	147551											
HEATR6	63897	broad.mit.edu	37	chr17	58134504	58134504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcctccttgggcagtaCgacaatggaaatgcagagtc	12	9	0	1	rs147472962	byFrequency	TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr17:58134504C>T	uc002iyk.1	-	12	2001	c.1984G>A	c.(1984-1986)GTA>ATA	p.V662I	HEATR6_uc010ddk.1_Missense_Mutation_p.V201I|HEATR6_uc010wos.1_Missense_Mutation_p.V494I	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	662							binding			ovary(1)|skin(1)	2	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)			TTGGGCAGTACGACAATGGAA	0.557													T	58134504	C	T	58134504	3	4	289	1	0	0	0	0	1	0	0	0	7033	536	19	1	1597	1	HEATR6	17	58134504	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	18999383	58134504	23060706	102	147552											
PTPRM	5797	broad.mit.edu	37	chr18	8376491	8376491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggactggctgtttcatcGtcattgatatcatgttggac	12	7	3	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr18:8376491G>A	uc002knn.3	+	24	3822	c.3319G>A	c.(3319-3321)GTC>ATC	p.V1107I	PTPRM_uc010dkv.2_Missense_Mutation_p.V1120I|PTPRM_uc010wzl.1_Missense_Mutation_p.V894I	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1107	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CTGTTTCATCGTCATTGATAT	0.517													A	8376491	G	A	8376491	3	1	289	1	0	0	0	0	1	0	0	0	12806	1145	40	1	3460	1	PTPRM	18	8376491	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08		8376491	69700757	103	147553											
CIDEA	1149	broad.mit.edu	37	chr18	12274118	12274118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacgtccccacttgctcGccgccgaagaggtcgggaat	12	15	0	1	rs140727009	byFrequency	TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr18:12274118G>A	uc002kqt.3	+	4	422	c.357G>A	c.(355-357)TCG>TCA	p.S119S	CIDEA_uc002kqu.3_Silent_p.S153S|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	119					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						CCACTTGCTCGCCGCCGAAGA	0.592													A	12274118	G	A	12274118	2	1	289	1	0	0	0	0	0	0	0	1	3425	1074	38	1		1	CIDEA	18	12274118	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	3897627	12274118	65803130	104	147554											
TMPRSS9	360200	broad.mit.edu	37	chr19	2403177	2403177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactgctccgatgggtcCgacgaggcgcactgcggtca	16	12	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:2403177C>T	uc010xgx.1	+	5	552	c.552C>T	c.(550-552)TCC>TCT	p.S184S	TMPRSS9_uc002lvv.1_Silent_p.S218S	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	184	LDL-receptor class A.|Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		CCGATGGGTCCGACGAGGCGC	0.632													T	2403177	C	T	2403177	2	4	289	1	0	0	0	0	0	0	0	1	16250	639	23	1		1	TMPRSS9	19	2403177	Silent	SNP	C	TCGA-IP-7968-01A-11D-2201-08		2403177	56725806	105	147555											
PLIN4	729359	broad.mit.edu	37	chr19	4512722	4512722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcagcccagtttgcatgGcccccttggccacattcgct	9	15	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:4512722G>A	uc002mar.1	-	3	1208	c.1208C>T	c.(1207-1209)GCC>GTC	p.A403V	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	403	10.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0						AGTTTGCATGGCCCCCTTGGC	0.567													A	4512722	G	A	4512722	3	1	289	1	0	0	0	0	1	0	0	0	12092	1203	42	2	2881	2	PLIN4	19	4512722	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	2109545	4512722	54616261	106	147556											
TICAM1	148022	broad.mit.edu	37	chr19	4817152	4817152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagggcctccagcttctccCgaacccgcagggcgatgtgt	12	15	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:4817152C>T	uc002mbi.2	-	2	1489	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	413	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAGCTTCTCCCGAACCCGCAG	0.617													T	4817152	C	T	4817152	3	4	289	1	0	0	0	0	1	0	0	0	15889	652	23	1	904	1	TICAM1	19	4817152	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	304430	4817152	54311831	107	147557											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670208	8670208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgcgggtggggaaggCgatctcatagctctccagac	14	12	2	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:8670208C>T	uc002mkj.1	-	4	398	c.124G>A	c.(124-126)GCC>ACC	p.A42T	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	42					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GTGGGGAAGGCGATCTCATAG	0.677													T	8670208	C	T	8670208	3	4	289	1	0	0	0	0	1	0	0	0	256	768	27	1	3279	1	ADAMTS10	19	8670208	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	3853056	8670208	50458775	108	147558											
MUC16	94025	broad.mit.edu	37	chr19	9058711	9058711	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaggggtcagagatgAcattgactctatctcaatcc	9	11	3	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:9058711A>T	uc002mkp.2	-	3	28939	c.28735T>A	c.(28735-28737)TCA>ACA	p.S9579T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9581	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCAGAGATGACATTGACTCT	0.502													T	9058711	A	T	9058711	3	4	289	1	0	0	0	0	1	0	0	0	9973	275	10	5	15116	5	MUC16	19	9058711	Missense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	388503	9058711	50070272	109	147559											
OR7D2	162998	broad.mit.edu	37	chr19	9297245	9297245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtccacttcacttctgCggtgactcactcttcccaga	9	14	4	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:9297245C>T	uc002mkz.1	+	1	976	c.788C>T	c.(787-789)GCG>GTG	p.A263V		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	263	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TTCACTTCTGCGGTGACTCAC	0.507													T	9297245	C	T	9297245	3	4	289	1	0	0	0	0	1	0	0	0	11219	768	27	1	790	1	OR7D2	19	9297245	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	238534	9297245	49831738	110	147560											
RAVER1	125950	broad.mit.edu	37	chr19	10434179	10434179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgcctcctccgccaTctcagccgtctcatactcca	6	19	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:10434179T>C	uc002moa.2	-	4	951	c.871A>G	c.(871-873)ATG>GTG	p.M291V		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	274	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TCCTCCGCCATCTCAGCCGTC	0.697													C	10434179	T	C	10434179	3	2	289	1	0	0	0	0	1	0	0	0	13094	1435	50	3	1439	3	RAVER1	19	10434179	Missense_Mutation	SNP	T	TCGA-IP-7968-01A-11D-2201-08	1136934	10434179	48694804	111	147561											
NOTCH3	4854	broad.mit.edu	37	chr19	15311632	15311632	+	Frame_Shift_Del	DEL	G	G	-													ccccgctagcagcagcagcaGgggcagcgcccgcacgggtg							TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:15311632delG	uc002nan.2	-	1	161	c.85delC	c.(85-87)CTGfs	p.L29fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.L29fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	29					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			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCAGCAGCAGGGGCAGCGCC	0.597													-	15311632	G	-	15311632	7	5	289	1	0	1	0	1	0	0	0	0	10550	991	35	0	7012	0	NOTCH3	19	15311632	Frame_Shift_Del	DEL	G	TCGA-IP-7968-01A-11D-2201-08	4877453	15311632	43817351	112	147562											
ZNF99	7652	broad.mit.edu	37	chr19	22951157	22951157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatattccaaggctctttcCcttgcttcagacaagttatc	5	12	3	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:22951157C>T	uc010xrh.1	-	3	239	c.239G>A	c.(238-240)GGG>GAG	p.G80E		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGCTCTTTCCCTTGCTTCAG	0.363													T	22951157	C	T	22951157	3	4	289	1	0	0	0	0	1	0	0	0	18201	623	22	4	2893	4	ZNF99	19	22951157	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	7639525	22951157	36177826	113	147563											
FPR3	2359	broad.mit.edu	37	chr19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctacgtctttatgggtcGtaacttccaagaaagactga	8	9	2	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:52327921G>A	uc002pxt.1	+	2	1104	c.920G>A	c.(919-921)CGT>CAT	p.R307H		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	307	Cytoplasmic (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						TTTATGGGTCGTAACTTCCAA	0.473													A	52327921	G	A	52327921	3	1	289	1	0	0	0	0	1	0	0	0	6040	1145	40	1	922	1	FPR3	19	52327921	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	29376764	52327921	6801062	114	147564											
ZNF813	126017	broad.mit.edu	37	chr19	53994528	53994528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttacatgccatcgtagaCttcatactggagagaaacct	7	12	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:53994528C>T	uc002qbu.2	+	4	1170	c.1042C>T	c.(1042-1044)CTT>TTT	p.L348F	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	348	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CCATCGTAGACTTCATACTGG	0.418													T	53994528	C	T	53994528	3	4	289	1	0	0	0	0	1	0	0	0	18172	565	20	4	1052	4	ZNF813	19	53994528	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	1666607	53994528	5134455	115	147565											
ZNF813	126017	broad.mit.edu	37	chr19	53994690	53994690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttaacccttaaatgccatCgtagacttcataccggagag	8	10	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:53994690C>T	uc002qbu.2	+	4	1332	c.1204C>T	c.(1204-1206)CGT>TGT	p.R402C	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	402	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TAAATGCCATCGTAGACTTCA	0.408													T	53994690	C	T	53994690	3	4	289	1	0	0	0	0	1	0	0	0	18172	884	31	1	1214	1	ZNF813	19	53994690	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	162	53994690	5134293	116	147566											
ZNF471	57573	broad.mit.edu	37	chr19	57036448	57036448	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttttgctcgacatcagAgatgtcacactggcaaaaga	9	10	3	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:57036448A>T	uc002qnh.2	+	5	1145	c.1012A>T	c.(1012-1014)AGA>TGA	p.R338*		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	338	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCGACATCAGAGATGTCACAC	0.428													T	57036448	A	T	57036448	4	4	289	1	0	0	0	0	0	1	0	0	17927	296	11	5	1026	5	ZNF471	19	57036448	Nonsense_Mutation	SNP	A	TCGA-IP-7968-01A-11D-2201-08	3041758	57036448	2092535	117	147567											
ZNF418	147686	broad.mit.edu	37	chr19	58439318	58439318	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caagagtgggccttcttgggAgacacacctgccccaggagt	13	12	1	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:58439318A>T	uc002qqs.1	-	4	523	c.231T>A	c.(229-231)TCT>TCA	p.S77S	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_5'UTR	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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)		CCTTCTTGGGAGACACACCTG	0.502													T	58439318	A	T	58439318	2	4	289	1	0	0	0	0	0	0	0	1	17892	291	11	5		5	ZNF418	19	58439318	Silent	SNP	A	TCGA-IP-7968-01A-11D-2201-08	1402870	58439318	689665	118	147568											
ZNF606	80095	broad.mit.edu	37	chr19	58489952	58489952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccagtatgagttctcCggtgtgcaatgaggtgagaa	12	8	2	3			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr19:58489952C>T	uc002qqw.2	-	7	2714	c.2096G>A	c.(2095-2097)CGG>CAG	p.R699Q	ZNF606_uc010yhp.1_Missense_Mutation_p.R609Q	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	699	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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)		ATGAGTTCTCCGGTGTGCAAT	0.408													T	58489952	C	T	58489952	3	4	289	1	0	0	0	0	1	0	0	0	18029	652	23	1	286	1	ZNF606	19	58489952	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	50634	58489952	639031	119	147569											
NCOA5	57727	broad.mit.edu	37	chr20	44698970	44698970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctaagatccctcacgtcccGaacgtcgcgcacactcctgc	7	18	2	1	rs41282786		TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr20:44698970G>A	uc002xrd.2	-	2	772	c.244C>T	c.(244-246)CGG>TGG	p.R82W	NCOA5_uc002xrc.2_5'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.R82W	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	82	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)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				CTCACGTCCCGAACGTCGCGC	0.532													A	44698970	G	A	44698970	3	1	289	1	0	0	0	0	1	0	0	0	10232	1057	37	1	1519	1	NCOA5	20	44698970	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08		44698970	18326550	120	147570											
NFATC2	4773	broad.mit.edu	37	chr20	50140079	50140079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggggcacgggcgagtggCggcccaggcagctgtcctcg	19	13	0	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr20:50140079C>T	uc002xwd.2	-	2	921	c.701G>A	c.(700-702)CGC>CAC	p.R234H	NFATC2_uc002xwc.2_Missense_Mutation_p.R234H|NFATC2_uc010zyv.1_Missense_Mutation_p.R15H|NFATC2_uc010zyw.1_Missense_Mutation_p.R15H|NFATC2_uc010zyx.1_Missense_Mutation_p.R214H|NFATC2_uc010zyy.1_Missense_Mutation_p.R15H|NFATC2_uc010zyz.1_Missense_Mutation_p.R15H|NFATC2_uc002xwe.2_Missense_Mutation_p.R214H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	234	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			ovary(2)	2	Hepatocellular(150;0.248)					GGGCGAGTGGCGGCCCAGGCA	0.662													T	50140079	C	T	50140079	3	4	289	1	0	0	0	0	1	0	0	0	10362	768	27	1	2160	1	NFATC2	20	50140079	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	5441109	50140079	12885441	121	147571											
SALL4	57167	broad.mit.edu	37	chr20	50405596	50405596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatccctggggacaatgtcGagggtcccacaaatgtgcca	11	12	1	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr20:50405596G>A	uc002xwh.3	-	3	2647	c.2546C>T	c.(2545-2547)TCG>TTG	p.S849L	SALL4_uc010gii.2_Missense_Mutation_p.S412L|SALL4_uc002xwi.3_Missense_Mutation_p.S72L	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	849					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGACAATGTCGAGGGTCCCAC	0.582													A	50405596	G	A	50405596	3	1	289	1	0	0	0	0	1	0	0	0	13813	1059	37	1	623	1	SALL4	20	50405596	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	265517	50405596	12619924	122	147572											
DIDO1	11083	broad.mit.edu	37	chr20	61513397	61513397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttttggaagcagacgaaGcggtggaggaagctgccgtg	17	7	0	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr20:61513397G>A	uc002ydr.1	-	16	4175	c.3911C>T	c.(3910-3912)GCT>GTT	p.A1304V	DIDO1_uc002yds.1_Missense_Mutation_p.A1304V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1304					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					AGCAGACGAAGCGGTGGAGGA	0.602													A	61513397	G	A	61513397	3	1	289	1	0	0	0	0	1	0	0	0	4522	971	34	2	2815	2	DIDO1	20	61513397	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	11107801	61513397	1512123	123	147573											
ZBTB46	140685	broad.mit.edu	37	chr20	62422081	62422081	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtgccggtagtgggacgtGatttccatatcttcctttcg	12	9	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr20:62422081G>A	uc002ygv.1	-	2	231	c.30C>T	c.(28-30)ATC>ATT	p.I10I	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGTGGGACGTGATTTCCATAT	0.567													A	62422081	G	A	62422081	2	1	289	1	0	0	0	0	0	0	0	1	17544	1280	45	4		4	ZBTB46	20	62422081	Silent	SNP	G	TCGA-IP-7968-01A-11D-2201-08	908684	62422081	603439	124	147574											
ZNF512B	57473	broad.mit.edu	37	chr20	62597698	62597698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacaagctttgttaccGtaatgggtttggtgacaggt	12	7	1	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr20:62597698G>A	uc002yhl.1	-	5	884	c.830C>T	c.(829-831)ACG>ATG	p.T277M		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTTGTTACCGTAATGGGTTT	0.577													A	62597698	G	A	62597698	3	1	289	1	0	0	0	0	1	0	0	0	17954	1145	40	1	1900	1	ZNF512B	20	62597698	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	175617	62597698	427822	125	147575											
GGTLC2	91227	broad.mit.edu	37	chr22	22988895	22988895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgatctcctactacaagcCcgagttctacacgccggttg	8	16	2	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chr22:22988895C>T	uc010gtt.2	+	1	114	c.80C>T	c.(79-81)CCC>CTC	p.P27L	LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Missense_Mutation_p.P27L	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase-like 4 isoform 1	27					glutathione biosynthetic process		gamma-glutamyltransferase activity			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TACTACAAGCCCGAGTTCTAC	0.602													T	22988895	C	T	22988895	3	4	289	1	0	0	0	0	1	0	0	0	6366	623	22	4	82	4	GGTLC2	22	22988895	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08		22988895	28315671	126	147576											
ARHGAP6	395	broad.mit.edu	37	chrX	11174711	11174711	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaggatcggtctctaacagGctgatcagcacttcgttctg	10	11	4	1			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chrX:11174711G>C	uc004cup.1	-	10	2718	c.1845C>G	c.(1843-1845)AGC>AGG	p.S615R	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.S615R|ARHGAP6_uc004cum.1_Missense_Mutation_p.S412R|ARHGAP6_uc004cun.1_Missense_Mutation_p.S435R|ARHGAP6_uc010neb.1_Missense_Mutation_p.S437R|ARHGAP6_uc011mif.1_Missense_Mutation_p.S412R	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	615					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			urinary_tract(1)|lung(1)	2						TCTCTAACAGGCTGATCAGCA	0.458													C	11174711	G	C	11174711	3	2	289	1	0	0	0	0	1	0	0	0	887	1194	42	5	1217	5	ARHGAP6	23	11174711	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08		11174711	144095849	127	147577											
MAP3K15	389840	broad.mit.edu	37	chrX	19387274	19387274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggatagccctcttccGcttcatccatgtccttatct	8	14	3	0			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chrX:19387274G>A	uc004czk.1	-	26	3526	c.1889C>T	c.(1888-1890)GCG>GTG	p.A630V	MAP3K15_uc004czj.1_Missense_Mutation_p.A590V|MAP3K15_uc004czi.1_Missense_Mutation_p.A89V	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase	1155							ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)					GCCCTCTTCCGCTTCATCCAT	0.587													A	19387274	G	A	19387274	3	1	289	1	0	0	0	0	1	0	0	0	9249	1087	38	1	497	1	MAP3K15	23	19387274	Missense_Mutation	SNP	G	TCGA-IP-7968-01A-11D-2201-08	8212563	19387274	135883286	128	147578											
GPR174	84636	broad.mit.edu	37	chrX	78426762	78426762	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatcatgactggccattTgggcctggtctctgcatgtt	11	9	2	2			TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chrX:78426762T>A	uc004edg.1	+	1	294	c.258T>A	c.(256-258)TTT>TTA	p.F86L		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	86	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						ACTGGCCATTTGGGCCTGGTC	0.423										HNSCC(63;0.18)			A	78426762	T	A	78426762	3	1	289	1	0	0	0	0	1	0	0	0	6672	1809	63	5	260	5	GPR174	23	78426762	Missense_Mutation	SNP	T	TCGA-IP-7968-01A-11D-2201-08	59039488	78426762	76843798	129	147579											
AMOT	154796	broad.mit.edu	37	chrX	112048266	112048266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtcctcattggtagaaCgggcagtggccagctccgct	13	11	1	1	rs139517376		TCGA-IP-7968-01A-11D-2201-08	TCGA-IP-7968-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cd2ff4e-689b-4c9f-87b7-083a64c1e68f	1b36d280-0b98-4b5a-b70f-6d74b3662af3	g.chrX:112048266C>T	uc004epr.2	-	5	1685	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	AMOT_uc004eps.2_Missense_Mutation_p.R153H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	562	Potential.				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|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						ATTGGTAGAACGGGCAGTGGC	0.517													T	112048266	C	T	112048266	3	4	289	1	0	0	0	0	1	0	0	0	582	536	19	1	1597	1	AMOT	23	112048266	Missense_Mutation	SNP	C	TCGA-IP-7968-01A-11D-2201-08	33621504	112048266	43222294	130	147580											
